Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	Maybe_Pathogenic	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	SIFT_score	SIFT_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_pred	LRT_score	LRT_pred	MutationTaster_score	MutationTaster_pred	MutationAssessor_score	MutationAssessor_pred	FATHMM_score	FATHMM_pred	RadialSVM_score	RadialSVM_pred	LR_score	LR_pred	VEST3_score	CADD_raw	CADD_phred	GERP++_RS	phyloP46way_placental	phyloP100way_vertebrate	SiPhy_29way_logOdds	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score.1	SIFT_converted_rankscore	SIFT_pred.1	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score.1	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred.1	Polyphen2_HVAR_score.1	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred.1	LRT_score.1	LRT_converted_rankscore	LRT_pred.1	LRT_Omega	MutationTaster_score.1	MutationTaster_converted_rankscore	MutationTaster_pred.1	MutationAssessor_score.1	MutationAssessor_rankscore	MutationAssessor_pred.1	FATHMM_score.1	FATHMM_converted_rankscore	FATHMM_pred.1	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw.1	CADD_raw_rankscore	CADD_phred.1	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS.1	GERP++_RS_rankscore	phyloP100way_vertebrate.1	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds.1	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES961	WT	HH	HZ	NC
chr1	946452	946452	A	T	exonic	NOC2L	.	nonsynonymous SNV	NOC2L:NM_015658:exon15:c.T1753A:p.C585S,	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.009	B	0.022	B	0.437	N	1.000	N	-0.08	N	1.08	T	-1.004	T	0.032	T	0.111	0.988	9.033	-7.51	-1.153	0.010	4.890	0.024	0.00579405024781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	1.362e-06	2.752e-06	0.0005	5.5e-07	1.5e-07	0.0001	7.541e-05	0	0	0	0	0	0.0005	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.548	0.06627	T	0.654	0.06643	T	0.008	0.14655	B	0.015	0.17295	B	0.437119	0.12674	N	0.751519	1	0.08975	N	0.66	0.16226	N	1.08	0.39401	T	0.76	0.01978	N	0.159	0.16586	-1.0035	0.28903	T	0.032	0.13811	T	10	0.07055357	0.10279	T	0.005794	0.15042	T	0.024	0.04979	0.365	0.37199	0.263140351381	0.25927	0.09753785471464999	0.09684	.	.	0.245211496949	0.03280	T	0.023501	0.17926	T	-0.287881	0.09850	T	-0.651297	0.08864	T	0.0295555267411471	0.01921	T	0.691431	0.30091	T	0.028534494	0.02207	0.0463229	0.06431	0.028534494	0.02206	0.0463229	0.06431	0.733	0.00170	T	.	.	0.089	0.12084	B	.	.	-0.389709	0.02250	0.231	0.56476185741714724	0.05560	0.31335	0.24311	N	AEFGBCI	0.048287	0.08223	N	-1.2174080146941	0.04747	0.2149106	-1.20536995871124	0.05823	0.2785475	0.998016422852793	0.36314	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.16	-7.51	0.01203	-0.124000	0.10571	.	.	-0.059000	0.16651	0.565000	0.27465	0.000000	0.08366	0.021000	0.11733	0.2416:0.0929:0.4962:0.1693	4.890	0.13080	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	676.33	38	chr1	946452	.	A	T	676.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-9.480e-01;DP=884;ExcessHet=0.0000;FS=5.341;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=-9.100e-01;SOR=0.534	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	19	0	1	1
chr1	961713	961713	A	G	exonic	KLHL17	.	nonsynonymous SNV	KLHL17:NM_198317:exon3:c.A452G:p.Y151C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.365	H	-2.5	D	1.057	D	0.897	D	0.974	4.607	25.1	4.8	1.942	7.391	14.667	0.959	0.549374566591	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	6.84e-07	1.363e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.775	0.99607	H	-2.5	0.89219	D	-8.74	0.97699	D	0.984	0.99337	1.057	0.98274	D	0.897	0.96568	D	10	0.99302083	0.99836	D	0.549375	0.95839	D	0.959	0.99346	0.942	0.99232	0.989901456234	0.98978	0.9373324288885125	0.93713	.	.	0.903543889523	0.96822	D	0.790679	0.94559	D	0.470316	0.93350	D	0.438	0.93266	D	0.999738276004791	0.98729	D	0.982302	0.94028	D	0.7896467	0.83251	0.7424313	0.84775	0.7896467	0.83252	0.7424313	0.84776	-14.47	0.94484	D	0.9192538620809828	0.96448	0.996	0.95832	P	.	.	5.238645	0.87945	29.4	0.99821085918306973	0.90414	0.97322	0.74021	D	AEFDGBCI	0.926755	0.90838	D	0.941947664799034	0.93658	12.18732	0.80843112995739	0.90374	10.37787	0.99999999999725	0.74766	0.660085	0.49399	0	0.662677	0.63036	0	0.493711	0.08198	1	0.604282	0.37693	0	.	.	4.8	4.8	0.61157	5.989000	0.70262	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.695000	0.33988	1.0:0.0:0.0:0.0	14.667	0.68522	923	0.18507	BTB/POZ domain|BTB/POZ domain|BTB/POZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2161.98	33	chr1	961713	.	A	G	2161.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=872;ExcessHet=0.0000;FS=0.642;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.90;ReadPosRankSum=-2.340e+00;SOR=0.774	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1221	20	0	1	0
chr1	964514	964514	C	A	exonic	KLHL17	.	nonsynonymous SNV	KLHL17:NM_198317:exon11:c.C1684A:p.P562T,	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.258	B	0.098	B	0.000	D	1.000	D	2.835	M	-1.25	T	0.018	D	0.491	T	0.601	1.580	11.24	4.82	2.376	4.771	18.271	0.464	0.157929298807	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.185	0.28958	T	0.258	0.31443	B	0.098	0.30479	B	0.000208	0.47681	D	0.186748	1	0.81001	D	3.02	0.86243	M	-1.25	0.79072	T	-0.69	0.19720	N	0.691	0.69649	0.018	0.82625	D	0.491	0.80648	T	10	0.68266016	0.71373	D	0.157929	0.83842	D	0.464	0.76023	0.489	0.57415	0.896325372	0.89529	0.2854711482643828	0.28460	.	.	0.840892612934	0.88230	D	0.258844	0.63004	T	0.0942172	0.63662	D	-0.10244	0.63209	T	0.978278815746307	0.72246	D	0.949105	0.80429	D	0.13519858	0.31385	0.09050622	0.21226	0.13519858	0.31385	0.09050622	0.21226	-6.473	0.50078	T	0.2648727734121405	0.35717	0.380	0.58416	A	.	.	2.518021	0.32531	19.07	0.93009551941875068	0.22602	0.95999	0.67077	D	AEFBI	0.594228	0.58924	D	0.133725111346278	0.48043	3.021629	0.165455885546709	0.47966	3.019133	0.999994206069141	0.74766	0.732398	0.92422	0	0.643519	0.57511	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	4.82	4.82	0.61641	3.240000	0.51066	.	.	0.597000	0.34315	0.995000	0.38783	1.000000	0.68203	0.022000	0.11911	0.0:1.0:0.0:0.0	18.271	0.90007	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1989.98	33	chr1	964514	.	C	A	1989.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.378;DP=863;ExcessHet=0.0000;FS=3.134;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.41;ReadPosRankSum=5.78;SOR=1.122	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,102,1211	20	0	1	0
chr1	979831	979831	G	A	exonic	PERM1	.	nonsynonymous SNV	PERM1:NM_001369898:exon1:c.C1199T:p.A400V	.	.	429	1087	6	0	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.019	B	0.022	B	0.638	U	1.000	N	.	.	0.97	T	-0.993	T	0.087	T	0.057	2.121	13.05	2.6	0.819	0.671	9.100	0.026	0.0185273084156	.	0.000599042	0.0017	0	0	0	0.0007	0.0013	0.0051	0.0023	0.0002329	36	154602	rs577120404	0.0009	0.0008	0.0008	0.0010	0.0024	0.0008	0.0008	0.0021	0.0020	0.0002	0.0001	0.0023	0	0.0015	0.0011	0.0008	0.0006	0.0024	0.0007	0.0007	0.0007	0.0008	0.0023	0.0006	0.0006	0.0013	0.0010	4.808e-05	0	0	0.0023	0	0.0020	0.0034	0.0010	0.0005	0.0023	0.029	0.45756	D	0.073	0.43913	T	.	.	.	.	.	.	0.637774	0.10627	U	0.721314	1	0.08975	N	.	.	.	0.97	0.42502	T	-1.42	0.34992	N	0.222	0.24883	-0.9927	0.31906	T	0.087	0.33830	T	9	0.005650878	0.00125	T	0.018527	0.40624	T	0.026	0.05648	.	.	0.0482279557977	0.04254	0.12155043505038945	0.12082	.	.	.	.	.	0.029361	0.21058	T	-0.642163	0.00081	T	-0.700437	0.05802	T	0.0140976008727006	0.00274	T	0.371963	0.10281	T	0.02111979	0.00699	0.06434521	0.12881	0.02111979	0.00698	0.06434521	0.12881	-5.786	0.46522	T	.	.	0.116	0.23500	B	.;.	.;.	0.896959	0.12707	9.228	0.98901071050071854	0.48181	0.15022	0.18705	N	AEFDBCI	0.079958	0.16159	N	-1.0085836735568	0.08424	0.3949748	-1.06137548402993	0.08470	0.4166884	0.995574168383274	0.34201	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	3.52	2.6	0.30173	2.730000	0.47007	.	.	-1.241000	0.01314	0.232000	0.24664	0.105000	0.22724	0.002000	0.04165	0.1118:0.0:0.8882:0.0	9.100	0.35826	861	0.33516	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	4772.98	103	chr1	979831	.	G	A	4772.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.228e+00;DP=1846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.94;ReadPosRankSum=-8.720e-01;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:77,0:77:99:.:.:0,120,1800	20	0	1	0
chr1	980234	980234	T	A	exonic	PERM1	.	nonsynonymous SNV	PERM1:NM_001369898:exon1:c.A796T:p.T266S	.	.	423	1090	9	0	0	9	0.00411147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.058	B	0.015	B	0.551	N	1.000	N	.	.	0.86	T	-1.064	T	0.053	T	0.105	0.685	7.660	-7.54	-1.588	-2.130	2.197	0.015	0.00579008305942	.	0.00179712	0.0008	0	0	0	0	0.0015	0	0.0007	0.0004398	68	154602	rs186435690	0.0019	0.0018	0.0019	0.0019	0.0032	0.0018	0.0018	0.0022	0.0021	0.0005	0.0008	7.942e-05	0	8.337e-05	0.0032	0.0023	0.0022	0.0003	0.0016	0.0016	0.0017	0.0015	0.0027	0.0014	0.0014	0.0024	0.0023	0.0006	0.0066	0.0014	0	0	0.0002	0.0034	0.0027	0.0019	0.0008	0.279	0.15561	T	0.659	0.08839	T	.	.	.	.	.	.	0.551365	0.05372	N	1.263340	1	0.08975	N	.	.	.	.	.	.	-1.06	0.27669	N	0.05	0.02179	-1.0642	0.10736	T	0.053	0.22655	T	9	0.004563421	0.00095	T	0.00579	0.15042	T	0.015	0.02232	.	.	0.0297737177859	0.01360	0.051393872434996796	0.05081	.	.	.	.	.	0.028445	0.20604	T	-0.636245	0.00088	T	-0.689119	0.06440	T	0.00182761711972238	0.00019	T	0.342666	0.10263	T	0.028213155	0.02124	0.03697222	0.03251	0.028213155	0.02124	0.03697222	0.03250	-3.26	0.13227	T	.	.	0.142	0.31228	B	.;.	.;.	-0.556608	0.01695	0.123	0.6366384684374824	0.07284	0.05448	0.11325	N	AEFDGBCI	0.108101	0.21516	N	-1.33006194469544	0.03336	0.1488563	-1.4808714068551	0.02501	0.1151442	0.999919450837561	0.45857	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	4.79	-7.54	0.01189	-2.041000	0.01503	.	.	-0.229000	0.07765	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1119:0.179:0.2216:0.4876	2.197	0.03674	855	0.34697	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2640.98	43	chr1	980234	.	T	A	2640.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.85;DP=1073;ExcessHet=0.0000;FS=5.233;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=-9.000e-01;SOR=1.063	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr1	1043909	1043909	G	A	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon10:c.G1885A:p.G629S,	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	1927773	Congenital_myasthenic_syndrome_8|Inborn_genetic_diseases	MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.69	T	0.337	B	0.203	B	0.176	N	1.000	N	-0.625	N	3.91	T	-0.903	T	0.004	T	0.152	-0.880	0.480	-0.563	0.026	0.449	5.319	0.012	0.0184767680369	.	.	2.768e-05	0	9.24e-05	0	0	1.686e-05	0	6.292e-05	1.94e-05	3	154602	rs150061172	2.331e-05	2.394e-05	2.32e-05	2.343e-05	0.0001	1.678e-05	1.481e-05	4.363e-05	2.77e-05	2.988e-05	0.0001	0	2.52e-05	0	0	1.979e-05	1.658e-05	4.642e-05	2.638e-05	3.287e-05	2.578e-05	2.7e-05	6.558e-05	8.16e-06	5.16e-06	4.89e-06	1.83e-06	2.426e-05	0	6.558e-05	0	0	0	0	2.947e-05	0	0	0.648	0.04880	T	0.61	0.07691	T	.	.	.	.	.	.	0.176039	0.17235	N	0.492861	1	0.08975	N	-0.195	0.04202	N	3.91	0.03489	T	-0.07	0.08033	N	0.224	0.32591	-0.9031	0.47661	T	0.004	0.01435	T	10	0.046268195	0.03796	T	0.018477	0.40558	T	0.012	0.01476	0.353	0.35246	0.39709148275	0.39321	0.3550924720832901	0.35423	0.570553622991	0.53213	0.507405638695	0.39860	T	.	.	.	-0.459897	0.00985	T	-0.672685	0.07437	T	0.0341466696895363	0.02662	T	0.754025	0.37642	T	.	.	.	.	.	.	.	.	-1.983	0.03117	T	.	.	0.092	0.13503	B	.;.	.;.	1.076723	0.14596	11.16	0.70113294878737531	0.09190	0.19088	0.20523	N	AEFBI	0.136998	0.25784	N	-1.26884824624819	0.04056	0.1823605	-1.28953681773067	0.04571	0.2159143	0.123777626240942	0.16943	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.98	-0.563	0.11188	0.144000	0.15956	0.354000	0.17507	-0.104000	0.15758	0.000000	0.06391	0.008000	0.19753	0.007000	0.07825	0.2752:0.0:0.5802:0.1446	5.319	0.15177	940	0.13648	.;Kazal domain|Kazal domain|Factor I / membrane attack complex|Kazal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1103.98	39	chr1	1043909	.	G	A	1103.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.300e-02;DP=909;ExcessHet=0.0000;FS=1.639;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.74;ReadPosRankSum=-1.018e+00;SOR=0.874	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,112,1436	20	0	1	0
chr1	1046008	1046008	G	A	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon16:c.G2725A:p.G909S,	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	822420	Congenital_myasthenic_syndrome_8	MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	2.275	M	-1.0	T	0.237	D	0.588	D	0.724	4.129	21.3	5.46	2.548	4.395	17.468	0.438	0.185145956978	7.7e-05	.	2.494e-05	0	0	0.0002	0	1.518e-05	0	0	1.94e-05	3	154602	rs368433481	3.352e-05	3.352e-05	3.131e-05	3.576e-05	0.0003	2.566e-05	2.312e-05	0.0001	0.0001	0	0	0	0.0003	0	0	2.518e-05	0.0001	2.319e-05	2.628e-05	2.627e-05	1.284e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0.0002	0	0	2.94e-05	0	0	0.0	0.91255	D	0.006	0.70582	D	.	.	.	.	.	.	0.000003	0.62929	D	0.000000	1	0.81001	D	2.94	0.84723	M	-1.0	0.76037	T	-4.82	0.80851	D	0.759	0.76388	0.237	0.86535	D	0.588	0.85224	D	10	0.78615904	0.78265	D	0.185146	0.85794	D	0.438	0.74235	.	.	0.829715715799	0.82809	0.6754039519508778	0.67478	0.489955808689	0.47747	0.658525705338	0.61198	T	.	.	.	0.00641046	0.52535	T	0.0802993	0.75598	D	0.889627873897552	0.54035	D	0.944206	0.78893	D	.	.	.	.	.	.	.	.	-9.623	0.71622	D	.	.	0.162	0.46574	B	.;.	.;.	3.899010	0.56784	23.8	0.99828681633001426	0.91026	0.97980	0.78604	D	AEFDGBI	0.719695	0.67050	D	0.52826671879736	0.68767	5.262893	0.418945959560385	0.62747	4.495285	0.999999999965619	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.46	5.46	0.80021	7.165000	0.77109	11.741000	0.95195	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.003000	0.05239	0.0:0.0:1.0:0.0	17.468	0.87530	940	0.13648	.;Factor I / membrane attack complex|EGF-like domain|Follistatin-like, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2111.98	62	chr1	1046008	.	G	A	2111.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.65;DP=1452;ExcessHet=0.0000;FS=3.796;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.71;ReadPosRankSum=0.107;SOR=1.048	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	20	0	1	0
chr1	1046670	1046670	G	A	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon18:c.G3185A:p.S1062N,	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	822431	Inborn_genetic_diseases|Congenital_myasthenic_syndrome_8	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.259	B	0.078	B	0.000	D	0.990	D	1.905	M	-1.21	T	-0.446	T	0.352	T	0.111	1.789	11.94	3.45	1.066	6.355	12.187	0.302	0.2113149665	.	.	2.052e-05	0	0	0.0003	0	0	0	0	1.29e-05	2	154602	rs751833707	8.339e-06	1.094e-05	5.527e-06	1.118e-05	0.0003	4.45e-06	3.51e-06	0.0001	0.0001	0	0	0	0.0003	0	0	0	3.339e-05	0	6.569e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.02	0.49613	D	0.005	0.72224	D	.	.	.	.	.	.	0.000007	0.62929	D	0.060927	0.990193	0.41107	D	2.24	0.63355	M	-1.21	0.78645	T	-1.7	0.40468	N	0.485	0.59223	-0.4463	0.70522	T	0.352	0.71557	T	10	0.34008327	0.51083	T	0.211315	0.87298	D	0.302	0.62290	0.091	0.01065	0.839894343975	0.83837	0.5831759189335557	0.58246	0.214022663997	0.23940	0.687483787537	0.65343	T	.	.	.	-0.08401	0.39062	T	-0.358451	0.38231	T	0.170826295753135	0.18636	T	0.849815	0.53298	T	.	.	.	.	.	.	.	.	-6.762	0.52276	T	.	.	0.377	0.62883	A	.;.	.;.	3.614702	0.51120	23.0	0.98638713103903419	0.44015	0.98739	0.86233	D	AEFDGBI	0.631010	0.61214	D	-0.115886181708536	0.36701	2.124945	-0.0892246398334525	0.35835	2.077928	0.997284466896083	0.35456	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.36	3.45	0.38602	5.331000	0.65681	9.678000	0.81237	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.032000	0.13371	0.0831:0.0:0.9169:0.0	12.187	0.53554	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	968.98	36	chr1	1046670	.	G	A	968.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.953e+00;DP=892;ExcessHet=0.0000;FS=2.754;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.65;ReadPosRankSum=-1.135e+00;SOR=1.000	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	20	0	1	0
chr1	1048170	1048170	G	A	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon23:c.G3910A:p.A1304T,	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	626538	Congenital_myasthenic_syndrome_8|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.61	T	0.003	B	0.004	B	0.010	N	1.000	N	0.345	N	-0.94	T	-1.010	T	0.168	T	0.091	-0.683	1.026	2.89	1.211	0.414	8.824	0.067	0.115961597703	7.9e-05	.	7.977e-05	0	0	0	0	0.0001	0	0.0001	3.23e-05	5	154602	rs375590400	6.729e-05	7.046e-05	6.399e-05	7.063e-05	0.0002	5.63e-05	5.232e-05	0.0001	9.013e-05	3.054e-05	0	0	0	0	0.0002	6.724e-05	8.426e-05	0.0002	5.915e-05	5.911e-05	8.995e-05	2.691e-05	0.0001	3.078e-05	2.211e-05	5.844e-05	4.241e-05	0	0	0	0	0	0	0	0.0001	0.0005	0	0.651	0.04832	T	0.177	0.29740	T	.	.	.	.	.	.	0.009589	0.30291	N	0.263339	1	0.08975	N	0.55	0.14455	N	-0.94	0.75325	T	-0.74	0.20791	N	0.094	0.07398	-1.0098	0.26981	T	0.168	0.50762	T	10	0.06380245	0.08366	T	0.115962	0.79531	D	0.067	0.19503	.	.	0.62380043238	0.62074	0.2750270993301686	0.27415	0.197183558091	0.22091	0.434752881527	0.29859	T	.	.	.	-0.372466	0.03471	T	-0.517752	0.20522	T	0.0112580247223377	0.00166	T	0.542746	0.18485	T	.	.	.	.	.	.	.	.	-4.676	0.33112	T	.	.	0.067	0.04436	B	.;.	.;.	0.864170	0.12365	8.905	0.51909772674365928	0.04649	0.07437	0.13455	N	AEFBI	0.034561	0.04303	N	-1.13487888642228	0.06032	0.276638	-1.08957773557398	0.07904	0.3864023	0.32800561236804	0.19455	0.706298	0.61202	0	0.724815	0.89359	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.93	2.89	0.32713	0.356000	0.19918	0.425000	0.18262	-0.213000	0.08312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.232:0.5235:0.2445:0.0	8.824	0.34200	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1614.98	36	chr1	1048170	.	G	A	1614.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.685e+00;DP=923;ExcessHet=0.0000;FS=3.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.24;ReadPosRankSum=-6.520e-01;SOR=1.051	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,111,1665	20	0	1	0
chr1	1049591	1049591	G	A	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon26:c.G4540A:p.A1514T,	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	.	1	1509	11	1	0	13	0.00428901	.	.	133758	Congenital_myasthenic_syndrome_8|not_provided|not_specified	MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.63	T	0.0	B	0.001	B	0.775	N	1.000	N	-0.18	N	-1.26	T	-1.041	T	0.092	T	0.011	-1.109	0.135	-1.43	-0.840	-1.013	4.685	0.124	.	0.0079	0.00439297	0.0127	0.0034	0.0160	0	0.0162	0.0191	0.0174	0.0033	0.0063971	989	154602	rs111818381	0.0097	0.0096	0.0098	0.0095	0.0132	0.0095	0.0095	0.0108	0.0105	0.0017	0.0052	0.0245	2.588e-05	0.0050	0.0132	0.0107	0.0099	0.0032	0.0076	0.0076	0.0083	0.0070	0.0114	0.0073	0.0071	0.0107	0.0105	0.0025	0.0186	0.0061	0.0271	0	0.0040	0.0137	0.0114	0.0123	0.0014	0.594	0.05737	T	0.492	0.11479	T	.	.	.	.	.	.	0.775432	0.06622	N	1.189700	1	0.08975	N	-0.24	0.03895	N	-1.26	0.79176	T	-0.1	0.08495	N	0.029	0.01274	-1.0408	0.17071	T	0.092	0.35092	T	10	0.0125926435	0.00270	T	.	.	.	0.124	0.34239	.	.	0.532311620844	0.52880	0.288019120144922	0.28714	0.121177624655	0.13646	0.31646245718	0.12886	T	.	.	.	-0.621726	0.00107	T	-0.656448	0.08508	T	0.00027527997028188	0.00002	T	0.650635	0.27951	T	.	.	.	.	.	.	.	.	-3.481	0.16167	T	.	.	0.067	0.02399	B	.;.	.;.	-1.029988	0.00729	0.022	0.6430283435860078	0.07456	0.08718	0.14606	N	AEFBI	0.173096	0.30016	N	-2.0045347125353	0.00207	0.008864193	-1.9727795401957	0.00349	0.01542436	0.146950024583165	0.17375	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.51	-1.43	0.08418	-1.431000	0.02538	-3.787000	0.02537	-2.886000	0.00165	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2208:0.0951:0.5875:0.0967	4.685	0.12138	940	0.13648	.;Laminin G domain|Laminin G domain|Laminin G domain	RP11-54O7.17|RP11-54O7.17|AGRN|RP11-54O7.17|RP11-54O7.17|RP11-54O7.17	Artery_Aorta|Artery_Tibial|Artery_Tibial|Esophagus_Mucosa|Esophagus_Muscularis|Thyroid	.	.	rs111818381	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1867.98	35	chr1	1049591	.	G	A	1867.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.710e-01;DP=848;ExcessHet=0.0000;FS=0.644;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=-5.300e-02;SOR=0.633	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1130	20	0	1	0
chr1	1084051	1084051	G	C	exonic	C1orf159	.	nonsynonymous SNV	C1orf159:NM_001363525:exon10:c.C804G:p.D268E	.	.	382	1138	2	0	0	2	0.000877963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.756	P	0.621	P	.	.	1.000	N	.	.	.	.	-1.019	T	0.043	T	0.097	2.701	14.99	-2.2	-0.688	-2.224	0.348	0.064	0.000769294842027	0.0003	0.000798722	0.0012	0	0.0004	0	0	0.0004	0	0.0065	0.0007568	117	154602	rs139486403	0.0005	0.0005	0.0003	0.0006	0.0049	0.0005	0.0004	0.0045	0.0043	0	0.0005	0.0007	0	1.916e-05	0.0014	0.0002	0.0006	0.0049	0.0004	0.0004	0.0004	0.0003	0.0031	0.0003	0.0003	0.0019	0.0015	0.0001	0	0.0003	0	0	0	0.0102	0.0004	0.0009	0.0031	0.0	0.91255	D	.	.	.	0.756	0.43409	P	0.621	0.51426	P	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	-0.01	0.07155	N	0.154	0.19325	-1.0194	0.23910	T	0.043	0.18368	T	7	0.0047748685	0.00101	T	7.69E-4	0.00568	T	0.073	0.21317	0.36	0.36385	0.0401082797425	0.02173	0.020974745217271534	0.02050	.	.	.	.	.	0.012211	0.10776	T	-0.575734	0.00204	T	-0.599238	0.12875	T	0.0506100060091721	0.05607	T	0.253875	0.03902	T	0.06546738	0.13995	0.06208382	0.12090	0.06546738	0.13995	0.06208382	0.12089	-3.352	0.14417	T	.	.	0.168	0.42007	B	.;.	.;.	-0.055341	0.03916	0.864	0.9792880709905859	0.36942	0.01739	0.05491	N	AEFBI	0.060844	0.11592	N	-1.00426551216051	0.08514	0.3995237	-1.22508515018952	0.05509	0.2626976	0.16251574577235	0.17615	0.700653	0.57754	0	0.633656	0.55848	0	0.717052	0.78885	0	0.655142	0.61905	0	.	.	2.76	-2.2	0.06601	-1.361000	0.02704	-0.198000	0.10972	-0.241000	0.07509	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2803:0.1993:0.3181:0.2023	0.348	0.00322	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1623.98	34	chr1	1084051	.	G	C	1623.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.630e-01;DP=827;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.69;ReadPosRankSum=-7.960e-01;SOR=0.752	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	20	0	1	0
chr1	1179271	1179271	G	A	exonic	TTLL10	.	nonsynonymous SNV	TTLL10:NM_001130045:exon4:c.G56A:p.R19Q	.	.	.	.	.	.	.	.	.	.	.	3347707	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.0	B	.	.	0.999	N	-0.805	N	3.11	T	-0.904	T	0.008	T	0.056	-0.773	0.749	-0.003	-0.093	0.051	6.583	0.012	0.00330465206705	.	0.000199681	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs555277428	1.215e-05	1.163e-05	1.411e-05	1.015e-05	0.0002	7.4e-06	6.05e-06	7.31e-05	4.941e-05	0	8.414e-05	0	0.0002	0	0	4.635e-06	0	3.788e-05	2.626e-05	2.625e-05	2.57e-05	2.685e-05	0.0004	8.14e-06	5.14e-06	6.842e-05	2.863e-05	4.811e-05	0	0	0	0.0004	0	0	0	0	0	1.0	0.00964	T	0.597	0.08025	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.04	0.01097	N	3.11	0.08194	T	0.54	0.02764	N	0.05	0.02179	-0.9039	0.47572	T	0.008	0.02679	T	9	0.013687283	0.00290	T	0.003305	0.07329	T	0.012	0.01476	0.134	0.03833	0.0551355673512	0.04727	0.03922983506734986	0.03868	0.0292523550471	0.03013	0.238416135311	0.02649	T	0.001822	0.01242	T	-0.651088	0.00071	T	-0.83676	0.01149	T	0.0218930608226052	0.00897	T	0.417558	0.11011	T	0.018435566	0.00366	0.03853029	0.03741	0.018435566	0.00365	0.03853029	0.03741	-4.439	0.30082	T	.	.	0.072	0.06114	B	.;.	.;.	0.240039	0.06203	2.654	0.79367735585075172	0.12709	0.00131	0.00809	N	AEFBCI	0.025994	0.01875	N	-1.58613170726529	0.01335	0.05816688	-1.54716010474366	0.01995	0.0911636	0.996663804982151	0.34909	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.94	-0.0029	0.13350	-0.348000	0.07789	0.584000	0.19738	-0.717000	0.03845	0.000000	0.06391	0.001000	0.17328	0.003000	0.05239	0.6773:0.0:0.3227:0.0	6.583	0.21800	789	0.46346	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	616.98	34	chr1	1179271	.	G	A	616.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=734;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.05;ReadPosRankSum=-9.990e-01;SOR=0.734	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1093	20	0	1	0
chr1	1185072	1185072	G	A	exonic	TTLL10	.	nonsynonymous SNV	TTLL10:NM_153254:exon9:c.G1145A:p.R382Q	.	.	.	.	.	.	.	.	.	.	.	2205540	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.43	T	0.713	P	0.115	B	0.155	U	1.000	N	0.675	N	3.38	T	-0.969	T	0.015	T	0.254	0.937	8.818	0.433	-0.082	0.746	4.255	0.056	0.00938516418832	.	.	1.686e-05	0	0	0.0001	0	1.531e-05	0	0	3.84e-05	1	26028	rs777355515	3.763e-05	3.762e-05	3.404e-05	4.126e-05	7.557e-05	2.96e-05	2.656e-05	2.999e-05	2.671e-05	5.975e-05	0	0	7.557e-05	0	0	3.957e-05	9.936e-05	0	2.628e-05	2.626e-05	5.137e-05	0	0.0002	8.14e-06	5.14e-06	.	.	2.412e-05	0	6.54e-05	0	0.0002	0	0	1.47e-05	0	0	0.116	0.45039	T	0.046	0.49120	D	0.464	0.42139	P	0.041	0.31843	B	0.155491	0.17829	U	0.404445	0.999681	0.20694	N	0.515	0.13537	N	3.38	0.14038	T	-1.17	0.31170	N	0.256	0.28965	-0.9692	0.37366	T	0.015	0.05801	T	10	0.10098776	0.18425	T	0.009385	0.24600	T	0.056	0.15993	0.486	0.56939	0.139678290688	0.13603	0.2160125843017974	0.21517	0.125008565608	0.14086	0.268202841282	0.05907	T	6.94E-4	0.00312	T	-0.353841	0.04491	T	-0.576916	0.14820	T	0.181164637207985	0.19308	T	0.723528	0.33695	T	0.046859246	0.07914	0.059381858	0.11135	0.046859246	0.07914	0.059381858	0.11135	-7.239	0.55761	T	.	.	0.097	0.17742	B	.;.;.	.;.;.	1.820178	0.23127	15.90	0.85577303792949122	0.15979	0.21154	0.21300	N	AEFDBHCI	0.055477	0.10176	N	-0.679742233569625	0.16601	0.8471912	-0.652593195257734	0.18150	0.9683738	0.989854532312226	0.31956	0.580535	0.33130	0	0.578056	0.33634	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.54	0.433	0.15747	0.990000	0.29242	0.954000	0.22943	-0.244000	0.07312	0.901000	0.31451	0.882000	0.27718	0.560000	0.30412	0.6024:0.1704:0.2272:0.0	4.255	0.10164	789	0.46346	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1607.98	39	chr1	1185072	.	G	A	1607.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.34;DP=960;ExcessHet=0.0000;FS=0.672;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.97;ReadPosRankSum=-6.350e-01;SOR=0.820	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr1	1214100	1214100	G	A	exonic	TNFRSF4	.	nonsynonymous SNV	TNFRSF4:NM_003327:exon1:c.C28T:p.R10C,	.	.	377	1075	66	4	0	74	0.0332734	.	.	447262	Combined_immunodeficiency_due_to_OX40_deficiency|TNFRSF4-related_disorder	MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593,Orphanet:431149|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.02	D	0.981	D	0.265	B	0.002	N	1.000	N	1.24	L	-0.02	T	-0.903	T	0.129	T	0.276	1.914	12.36	2.21	0.667	-0.921	6.235	0.118	.	0.0053	0.00519169	0.0151	0.0038	0.0060	0	0.0120	0.0141	0.0087	0.0318	0.0070504	1090	154602	rs35304565	0.0080	0.0080	0.0075	0.0085	0.0244	0.0079	0.0078	0.0235	0.0231	0.0015	0.0033	0.0093	5.145e-05	0.0058	0.0213	0.0074	0.0088	0.0244	0.0053	0.0053	0.0053	0.0052	0.0193	0.0050	0.0048	0.0161	0.0149	0.0018	0.0011	0.0056	0.0078	0	0.0040	0.0034	0.0068	0.0080	0.0193	0.007	0.59928	D	0.011	0.64786	D	0.981	0.59675	D	0.265	0.39681	B	0.001714	0.00817	N	4.085850	1	0.08975	N	0.895	0.22405	L	-0.02	0.62918	T	-2.58	0.55662	D	0.164	0.17278	-0.9026	0.47717	T	0.129	0.43848	T	10	0.0057964325	0.00129	T	.	.	.	0.118	0.32913	.	.	0.623996689363	0.62094	0.8368611785807644	0.83646	0.200386560108	0.22444	0.452319145203	0.32260	T	0.385507	0.74689	T	-0.476144	0.00779	T	-0.4378	0.29056	T	0.016484515701066	0.00413	T	0.526647	0.17353	T	0.17434712	0.38234	0.07939246	0.17868	0.1872518	0.40170	0.064411104	0.12905	-4.77	0.34240	T	.	.	0.341	0.56005	A	.	.	2.123526	0.27030	17.32	0.98421705000658088	0.41288	0.04202	0.09711	N	AEFDBCI	0.094465	0.19100	N	-0.538297404145678	0.20852	1.10236	-0.713258259078068	0.16631	0.8807004	0.999652904049022	0.41424	0.495158	0.18159	0	0.616935	0.53198	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.14	2.21	0.27042	-0.340000	0.07868	-5.498000	0.01697	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1456:0.0:0.8544:0.0	6.235	0.19967	789	0.46346	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	3781.68	36	chr1	1214100	.	G	A	3781.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.110e-01;DP=932;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=-8.580e-01;SOR=0.678	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1185	18	0	3	0
chr1	1217537	1217537	G	A	exonic	SDF4	.	nonsynonymous SNV	SDF4:NM_016176:exon7:c.C1043T:p.A348V,	.	.	.	.	.	.	.	.	.	.	.	2393822	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.915	P	0.475	P	0.000	D	1.000	D	1.955	M	0.56	T	-0.639	T	0.202	T	0.825	5.521	35	4.9	2.546	9.227	17.258	0.309	0.0517235704221	0.0009	.	0.0004	0.0001	0.0002	0	0	0.0006	0	0	0.0003169	49	154602	rs113021852	0.0005	0.0005	0.0005	0.0005	0.0006	0.0004	0.0004	0.0005	0.0005	8.966e-05	0.0004	0	0	0	0	0.0006	0.0003	2.321e-05	0.0003	0.0003	0.0004	0.0002	0.0005	0.0002	0.0002	0.0004	0.0004	0.0002	0	6.545e-05	0.0003	0	0	0	0.0005	0	0	0.013	0.53900	D	0.019	0.59159	D	0.915	0.50599	P	0.475	0.46927	P	0.000005	0.62929	D	0.106710	1	0.81001	D	1.845	0.48678	L	0.56	0.54540	T	-2.48	0.54059	N	0.757	0.75559	-0.6390	0.63188	T	0.202	0.55850	T	10	0.44007713	0.58044	T	0.051724	0.64779	D	0.309	0.63055	.	.	0.432716982437	0.42889	0.7638698898342031	0.76334	1.11051116609	0.78043	0.717314004898	0.69655	T	0.578	0.86141	D	-0.0840739	0.39049	T	0.0185113	0.71533	D	0.121896213262687	0.14613	T	0.935706	0.75920	D	0.21119149	0.43437	0.22675106	0.47663	0.21119149	0.43437	0.22675106	0.47662	-9.676	0.71950	D	.	.	.	.	.	.	.	5.479827	0.91365	32	0.99929151714861397	0.99279	0.99831	0.99737	D	AEFDBI	0.942501	0.94715	D	0.589668203893177	0.72531	5.820113	0.600938530005324	0.75009	6.23516	0.999999999999908	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.9	4.9	0.63643	9.570000	0.97330	9.807000	0.81726	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.699000	0.34110	0.0:0.0:1.0:0.0	17.258	0.86947	789	0.46346	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1090.98	33	chr1	1217537	.	G	A	1090.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.70;DP=803;ExcessHet=0.0000;FS=5.848;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=-1.610e-01;SOR=1.335	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	20	0	1	0
chr1	1217728	1217728	C	T	exonic	SDF4	.	nonsynonymous SNV	SDF4:NM_016547:exon7:c.G968A:p.G323E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.051	B	0.016	B	.	.	1.000	N	.	.	2.8	T	-0.993	T	0.021	T	0.061	0.636	7.420	0.572	0.580	0.041	.	0.053	0.00276849591942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.853e-07	6.84e-07	1.363e-06	0	9e-07	0	0	.	.	0	0	0	0	0	0	9e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.4	0.15010	T	0.051	0.22415	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	.	.	.	2.8	0.11082	T	2.47	0.00242	N	0.099	0.08088	-0.9928	0.31880	T	0.021	0.08778	T	7	0.043824613	0.03272	T	0.002768	0.05752	T	0.053	0.14996	0.559	0.67821	0.117506650769	0.11410	.	.	.	.	.	.	.	.	.	.	-0.405732	0.02122	T	-0.820583	0.01441	T	0.0436895338918375	0.04364	T	0.213579	0.02626	T	.	.	.	.	.	.	.	.	-3.913	0.22497	T	.	.	.	.	.	.	.	-0.057320	0.03902	0.858	0.82842622379049269	0.14404	0.00563	0.02562	N	AEFBI	0.025641	0.01792	N	-0.947188062003901	0.09755	0.4631308	-1.0978220548392	0.07742	0.3778497	0.775936911207487	0.23752	0.646311	0.45356	0	0.552637	0.17590	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	0.572	0.572	0.16542	-1.131000	0.03349	0.392000	0.17901	-0.421000	0.05231	0.000000	0.06391	0.003000	0.18671	0.002000	0.04165	.	.	.	789	0.46346	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2417.98	33	chr1	1217728	.	C	T	2417.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=865;ExcessHet=0.0000;FS=1.468;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.91;ReadPosRankSum=1.49;SOR=0.529	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	20	0	1	0
chr1	1232399	1232399	G	T	exonic	B3GALT6	.	nonsynonymous SNV	B3GALT6:NM_080605:exon1:c.G121T:p.A41S,	Ehlers-Danlos syndrome, progeroid type, 2, Autosomal recessive;Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.001	B	0.001	B	0.072	U	1.000	N	0	N	0.95	T	-0.996	T	0.056	T	0.095	0.135	4.728	-0.498	-2.057	-0.087	8.383	0.020	0.143256715659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.156e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.722	0.03903	T	0.64	0.06970	T	0.001	0.07471	B	0.001	0.04355	B	0.072255	0.02263	U	4.590520	1	0.08975	N	0	0.06538	N	0.95	0.43279	T	0.09	0.05917	N	0.032	0.00825	-0.9958	0.31082	T	0.056	0.23450	T	10	0.05187556	0.05136	T	0.143257	0.82560	D	0.020	0.03691	0.204	0.11936	0.316788114976	0.31282	0.24029469132405273	0.23943	0.844674069954	0.68227	0.832674741745	0.86972	D	9.43E-4	0.00494	T	-0.335437	0.05711	T	-0.719608	0.04814	T	0.0607369874046286	0.07283	T	0.218378	0.02784	T	0.034588423	0.03909	0.048117343	0.07080	0.034588423	0.03909	0.048117343	0.07080	-4.318	0.28428	T	.	.	0.087	0.11414	B	.;.	.;.	-0.353814	0.02391	0.265	0.65426608565659405	0.07769	0.41847	0.26748	N	ALL	0.048456	0.08269	N	-1.78811140266472	0.00575	0.02476182	-1.8261105764537	0.00679	0.03021283	0.999999999992595	0.74766	0.437478	0.07067	0	0.166054	0.03914	2	0.391439	0.06340	0	0.603991	0.37454	0	.	.	2.32	-0.498	0.11419	0.048000	0.13962	-0.379000	0.09554	-1.037000	0.01675	0.000000	0.06391	0.001000	0.17328	0.010000	0.09038	0.1179:0.3429:0.5392:0.0	8.383	0.31647	745	0.52414	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	46.26	2	chr1	1232399	.	G	T	46.26	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.100e-01;DP=263;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.63;ReadPosRankSum=1.83;SOR=0.892	GT:AD:DP:GQ:PL	0/0:14,0:14:42:0,42,485	20	0	1	0
chr1	1243491	1243491	G	A	exonic	C1QTNF12	.	nonsynonymous SNV	C1QTNF12:NM_001014980:exon5:c.C593T:p.T198M,	.	.	393	1128	1	0	0	1	0.000443066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.973	D	0.000	D	0.999	D	3.02	M	0.83	T	-0.512	T	0.292	T	0.527	2.338	13.78	2.91	0.974	6.307	7.252	0.271	0.312503995228	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1423766013	1.42e-05	4.378e-05	5.616e-06	2.299e-05	0.0001	9.28e-06	7.54e-06	8.545e-05	6.668e-05	0	2.657e-05	0	0	0	0	6.456e-06	0	0.0001	3.285e-05	3.283e-05	2.57e-05	4.035e-05	0.0008	1.261e-05	7.98e-06	0.0003	0.0002	0	0	6.541e-05	0	0	0	0	0	0	0.0008	0.015	0.52492	D	0.006	0.70582	D	1.0	0.90584	D	0.973	0.72923	D	0.000009	0.62929	D	0.062798	0.998791	0.45457	D	.	.	.	0.83	0.47815	T	-4.47	0.77881	D	0.808	0.80375	-0.5125	0.68195	T	0.292	0.66364	T	10	0.8629396	0.85523	D	0.312504	0.91229	D	0.271	0.58633	0.631	0.76699	0.45235992198	0.44860	0.7277076353197619	0.72714	0.421377757999	0.42644	0.688608884811	0.65506	T	0.286314	0.65910	T	-0.0146241	0.49616	T	-0.258783	0.48947	T	0.941127479076385	0.61408	D	0.90061	0.65471	D	0.15868181	0.35686	0.14788392	0.34979	0.15868181	0.35686	0.14788392	0.34978	-8.623	0.65241	D	.	.	0.107	0.19998	B	.	.	4.149218	0.62223	24.4	0.99804511605201052	0.88906	0.93717	0.58990	D	AEFDBI	0.759559	0.69785	D	0.366757108284608	0.59628	4.143998	0.15026080409894	0.47156	2.950075	0.911033312497369	0.26355	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	3.83	2.91	0.32903	6.076000	0.70901	8.304000	0.76936	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.014000	0.10232	0.1246:0.0:0.8754:0.0	7.252	0.25327	721	0.55360	C1q domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	800.98	33	chr1	1243491	.	G	A	800.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=799;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.42;ReadPosRankSum=0.093;SOR=0.761	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1241	20	0	1	0
chr1	1283999	1283999	C	A	exonic	SCNN1D	.	nonsynonymous SNV	SCNN1D:NM_001130413:exon5:c.C373A:p.L125I,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.204	B	0.02	B	.	.	1.000	N	0.345	N	-0.62	T	-0.995	T	0.140	T	0.034	1.200	9.874	-2.04	-0.431	-0.223	5.099	0.049	0.00724728326238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.642e-07	1.094e-05	0	1.554e-06	9.607e-07	0	0	.	.	0	0	0	0	0	0	9.607e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.088	0.40586	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.73	0.73100	T	-0.1	0.08495	N	0.128	0.13626	-0.9948	0.31352	T	0.140	0.45828	T	9	0.069535255	0.09990	T	0.007247	0.19225	T	0.049	0.13647	0.307	0.27806	0.112648838833	0.10856	0.019695980728043194	0.01922	.	.	0.341364562511	0.16643	T	.	.	.	-0.172841	0.24806	T	-0.486051	0.23806	T	0.073569103544084	0.09144	T	0.286771	0.05140	T	0.24687381	0.47660	0.13481812	0.32295	0.24687381	0.47660	0.13481812	0.32294	-5.442	0.41321	T	.	.	0.130	0.31658	B	.;.	.;.	1.501806	0.19302	14.20	0.94984528706370341	0.25927	0.01437	0.04829	N	AEFDBHCIJ	0.035767	0.04658	N	-1.12926426660554	0.06128	0.2812587	-1.23891277573289	0.05297	0.2520571	0.999999106184005	0.74766	0.696267	0.57585	0	0.00446	0.00028	3	0.691665	0.62940	0	0.604944	0.38103	0	.	.	2.09	-2.04	0.06937	-1.218000	0.03086	0.909000	0.22611	0.515000	0.23462	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2069:0.2915:0.5016:0.0	5.099	0.14085	774	0.48577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	905.98	34	chr1	1283999	.	C	A	905.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.520e-01;DP=770;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=1.26;SOR=0.748	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,969	20	0	1	0
chr1	1290519	1290519	G	A	exonic	SCNN1D	.	nonsynonymous SNV	SCNN1D:NM_001130413:exon14:c.G1823A:p.R608Q,	.	.	417	1091	14	0	0	14	0.00637523	.	.	2805474	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.589	P	0.111	B	0.926	N	1.000	N	0.53	N	-0.03	T	-1.058	T	0.074	T	0.124	0.495	6.683	-2.94	-0.812	-0.607	5.674	0.031	0.0541114475248	0.0054	0.00339457	0.0051	0.0013	0.0028	0.0001	0.0026	0.0069	0.0022	0.0059	0.0049611	767	154602	rs79943571	0.0070	0.0070	0.0069	0.0070	0.0088	0.0068	0.0068	0.0077	0.0077	0.0014	0.0029	0.0044	0.0002	0.0022	0.0088	0.0079	0.0067	0.0063	0.0060	0.0060	0.0057	0.0062	0.0094	0.0056	0.0055	0.0088	0.0086	0.0012	0.0757	0.0044	0.0040	0.0002	0.0024	0.0137	0.0094	0.0043	0.0054	0.174	0.29158	T	0.222	0.25748	T	.	.	.	.	.	.	0.925910	0.07505	N	1.044700	1	0.08975	N	1.17	0.29769	L	-0.03	0.63077	T	-1.41	0.36189	N	0.153	0.19728	-1.0575	0.12388	T	0.074	0.29802	T	10	0.0038484335	0.00073	T	0.054111	0.65732	D	0.031	0.07369	.	.	0.0846915920261	0.08053	0.18032344744737763	0.17951	.	.	0.221378445625	0.01391	T	.	.	.	-0.547262	0.00303	T	-0.548493	0.17470	T	0.003118240097714	0.00033	T	0.687331	0.29630	T	0.030601373	0.02753	0.039406244	0.04027	0.030601373	0.02752	0.039406244	0.04026	-5.843	0.45324	T	.	.	0.073	0.06250	B	.;.;.;.	.;.;.;.	0.221893	0.06040	2.484	0.90238736089972771	0.19511	0.03595	0.08819	N	AEFDBHCI	0.049300	0.08503	N	-1.48145707732993	0.01980	0.08699464	-1.56568900248761	0.01870	0.08524145	0.999004600004806	0.38186	0.653496	0.48692	0	0.858003	0.99906	0	0.596874	0.31795	0	0.599892	0.37169	0	.	.	4.05	-2.94	0.05245	-0.431000	0.07034	-0.850000	0.07182	-1.037000	0.01675	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.5162:0.0:0.3499:0.1339	5.674	0.17010	779	0.47767	.;.;.;.	B3GALT6|B3GALT6	Cells_Cultured_fibroblasts|Nerve_Tibial	SDF4|SDF4|SDF4|SDF4|SDF4|SDF4|SDF4|SDF4|SDF4|SDF4|SDF4	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Amygdala|Cells_Cultured_fibroblasts|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Whole_Blood	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	5190.11	42	chr1	1290519	.	G	A	5190.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.39;DP=1090;ExcessHet=0.1072;FS=5.597;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.09;ReadPosRankSum=1.30;SOR=0.594	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1439	19	0	2	0
chr1	1295823	1295823	G	A	exonic	ACAP3	.	nonsynonymous SNV	ACAP3:NM_030649:exon18:c.C1618T:p.R540W,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.897	P	0.607	N	0.953	D	0.895	L	1.67	T	-0.992	T	0.130	T	0.871	2.381	13.92	3.74	2.164	0.748	13.401	0.245	0.102389005156	7.7e-05	.	0.0002	0	0	0.0001	0	6.229e-05	0	0.0010	0.0001423	22	154602	rs143854090	7.817e-05	8.209e-05	4.913e-05	0.0001	0.0010	6.615e-05	6.157e-05	0.0008	0.0007	2.987e-05	0	0	2.519e-05	0	0.0003	2.069e-05	4.971e-05	0.0010	5.256e-05	5.253e-05	3.854e-05	6.724e-05	0.0006	2.557e-05	1.83e-05	0.0002	8.977e-05	2.412e-05	0	0	0	0	0	0	5.881e-05	0	0.0006	0.001	0.78490	D	0.003	0.79402	D	0.998	0.90584	D	0.644	0.63631	P	0.606607	0.05677	N	1.254730	0.557505	0.37803	D	2.16	0.60381	M	1.52	0.30669	T	-2.87	0.66325	D	0.371	0.49237	-0.9915	0.32218	T	0.130	0.43907	T	10	0.15324163	0.28930	T	0.102389	0.77582	D	0.245	0.55201	.	.	0.289847578895	0.28608	0.5726682340490865	0.57194	0.733661856495	0.62852	0.559488296509	0.47196	T	0.32043	0.69162	T	-0.156705	0.27268	T	-0.0542205	0.66733	D	0.143227041010245	0.16550	T	0.90281	0.66017	D	0.12505588	0.29325	0.1239105	0.29872	0.12505588	0.29325	0.1239105	0.29872	-5.43	0.41207	T	.	.	0.116	0.30157	B	.;.	.;.	3.703851	0.52842	23.3	0.99886737203690235	0.96204	0.51793	0.28979	D	AEFBI	0.473984	0.51844	N	-0.0507677593760517	0.39568	2.335475	-0.153137880434177	0.33288	1.902582	0.22260515726993	0.18373	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.7	3.74	0.42108	0.334000	0.19529	2.572000	0.33370	-0.247000	0.07223	0.000000	0.06391	0.963000	0.29397	0.001000	0.02609	0.0:0.0:0.7201:0.2799	13.401	0.60327	779	0.47767	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1197.98	45	chr1	1295823	.	G	A	1197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=816;ExcessHet=0.0000;FS=0.838;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.09;ReadPosRankSum=-3.560e-01;SOR=0.804	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1205	20	0	1	0
chr1	1303203	1303203	G	A	exonic	ACAP3	.	nonsynonymous SNV	ACAP3:NM_030649:exon3:c.C184T:p.R62C,	.	.	434	1066	22	0	0	22	0.0102136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.897	P	0.000	D	0.996	D	1.7	L	6.89	T	-1.157	T	0.008	T	0.641	3.351	17.29	3.33	2.177	2.112	10.408	0.113	.	0.0058	0.0109824	0.0173	0.0029	0.0920	0.0120	0	0.0121	0.0136	0.0082	0.0102651	1587	154602	rs145087137	0.0098	0.0098	0.0101	0.0096	0.0471	0.0097	0.0096	0.0454	0.0447	0.0024	0.0471	0.0179	0.0103	0.0009	0.0279	0.0090	0.0090	0.0059	0.0076	0.0076	0.0080	0.0072	0.0235	0.0072	0.0071	0.0215	0.0207	0.0025	0.0033	0.0235	0.0144	0.0068	0.0005	0.0238	0.0076	0.0175	0.0083	0.014	0.53172	D	0.111	0.42794	T	0.999	0.90584	D	0.807	0.63631	P	0.000002	0.62929	D	0.000000	0.995608	0.42768	D	1.905	0.50856	L	6.89	0.04446	T	-3.1	0.63554	D	0.793	0.78927	-1.1566	0.00842	T	0.008	0.02801	T	10	0.004399985	0.00090	T	.	.	.	0.113	0.31778	.	.	.	.	0.4656160404789092	0.46480	1.10122287715	0.77734	0.608934760094	0.54165	T	0.149929	0.48916	T	-0.401051	0.02279	T	-0.312353	0.43406	T	0.0229689569821304	0.01020	T	0.863414	0.55914	D	0.19107495	0.40719	0.16280355	0.37798	0.19107495	0.40719	0.16280355	0.37798	-11.683	0.83273	D	.	.	0.221	0.45224	B	.;.	.;.	5.262188	0.88351	29.6	0.9984607858335024	0.92576	0.94294	0.60709	D	AEFDBI	0.591001	0.58727	D	0.248984150455765	0.53588	3.52709	0.187298487634564	0.49151	3.121729	0.99994514814621	0.47345	0.706298	0.61202	0	0.643519	0.57511	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	3.33	3.33	0.37245	3.498000	0.53064	7.399000	0.58563	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.705000	0.34296	0.0:0.0:0.8041:0.1959	10.408	0.43461	779	0.47767	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	725.98	41	chr1	1303203	.	G	A	725.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.462;DP=802;ExcessHet=0.0000;FS=1.210;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.50;ReadPosRankSum=2.01;SOR=0.997	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,107,1131	20	0	1	0
chr1	1311010	1311010	C	G	exonic	PUSL1	.	nonsynonymous SNV	PUSL1:NM_001346116:exon7:c.C870G:p.H290Q	.	.	406	1095	21	0	0	21	0.00949796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.784	P	0.377	B	0.003	N	1.000	N	0.205	N	0.61	T	-1.054	T	0.031	T	0.199	-0.638	1.182	-1.66	-0.217	-0.431	8.095	0.075	.	0.0013	0.0081869	0.0077	0.0005	0.0490	0.0069	0	0.0029	0.0045	0.0063	0.0070633	1092	154602	rs144555782	0.0040	0.0040	0.0040	0.0040	0.0411	0.0039	0.0039	0.0395	0.0389	0.0012	0.0411	0.0118	0.0103	0.0002	0.0267	0.0021	0.0045	0.0058	0.0039	0.0039	0.0038	0.0041	0.0189	0.0037	0.0036	0.0171	0.0164	0.0008	0.0033	0.0189	0.0092	0.0069	9.413e-05	0.0238	0.0021	0.0080	0.0083	0.314	0.13834	T	0.291	0.20944	T	0.784	0.44396	P	0.377	0.43762	B	0.002963	0.00929	N	3.413200	1	0.08975	N	0.595	0.15482	N	0.61	0.53516	T	-1.08	0.28084	N	0.263	0.29774	-1.0544	0.13198	T	0.031	0.13418	T	10	0.0031905472	0.00054	T	.	.	.	0.075	0.21907	0.363	0.36874	0.166414681773	0.16258	0.3177858859180514	0.31691	0.0892768414165	0.10086	0.41160517931	0.26678	T	0.018173	0.14695	T	-0.581168	0.00190	T	-0.575449	0.14953	T	0.0115784722198555	0.00176	T	0.608539	0.22995	T	0.069252	0.15157	0.049437147	0.07554	0.069252	0.15157	0.049437147	0.07553	-9.089	0.68267	D	.	.	0.201	0.42448	B	.;.	.;.	0.992398	0.13703	10.24	0.60160038095682122	0.06396	0.18174	0.20150	N	AEFBCI	0.134803	0.25493	N	-1.02056430156669	0.08178	0.3825228	-1.1600891790449	0.06589	0.3176404	0.999991054311857	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.58	-1.66	0.07824	-2.273000	0.01246	-0.336000	0.09852	-0.805000	0.03119	0.000000	0.06391	0.090000	0.22521	0.011000	0.09372	0.0:0.4722:0.0:0.5278	8.095	0.29983	774	0.48577	Pseudouridine synthase I, TruA, alpha/beta domain;Pseudouridine synthase I, TruA, alpha/beta domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1551.98	44	chr1	1311010	.	C	G	1551.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.843;DP=928;ExcessHet=0.0000;FS=2.140;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.17;ReadPosRankSum=0.717;SOR=0.702	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1407	20	0	1	0
chr1	1312943	1312943	C	T	exonic	INTS11	.	nonsynonymous SNV	INTS11:NM_001256462:exon10:c.G844A:p.V282I	.	.	422	1099	1	0	0	1	0.000454752	.	.	3264220	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.23	T	0.722	P	0.447	P	0.000	N	1.000	D	0.905	L	0.78	T	-1.014	T	0.120	T	0.273	3.202	16.72	4.65	1.344	5.292	14.414	0.067	0.0119267325233	0.0003	0.000199681	0.0002	0.0010	0.0002	0.0005	0	9.284e-05	0	0	0.0001876	29	154602	rs143110978	0.0002	0.0002	0.0002	0.0001	0.0014	0.0001	0.0001	0.0007	0.0005	0.0003	0.0002	0	0.0001	9.619e-05	0.0014	0.0002	0.0002	1.16e-05	0.0003	0.0003	0.0003	0.0002	0.0006	0.0002	0.0002	0.0004	0.0003	0.0006	0	0.0002	0	0	0.0002	0	0.0001	0	0	0.279	0.18434	T	0.322	0.22494	T	0.476	0.42387	P	0.315	0.46003	B	0.000002	0.62929	N	0.059100	1	0.81001	D	1.2	0.30300	L	0.78	0.51714	T	-0.68	0.19509	N	0.338	0.40063	-1.0145	0.25497	T	0.120	0.41950	T	10	0.059907377	0.07276	T	0.011927	0.30037	T	0.067	0.19503	.	.	0.500113493057	0.49646	0.4882352124635133	0.48743	0.0585938424744	0.06498	0.482357919216	0.36382	T	0.015681	0.29650	T	-0.374912	0.03353	T	-0.404047	0.32915	T	0.00749443690907001	0.00087	T	0.872513	0.57956	D	0.1526866	0.34647	0.07797591	0.17422	0.1526866	0.34647	0.07797591	0.17422	-7.627	0.62579	D	.	.	0.116	0.30103	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.113661	0.42013	21.5	0.99667085405465983	0.78330	0.93541	0.58498	D	AEFDBHCI	0.497280	0.53187	N	0.115958255034121	0.47207	2.949676	0.228446525996642	0.51432	3.325749	0.999999985031482	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.56	4.65	0.57626	4.388000	0.59397	3.923000	0.40484	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.9283:0.0:0.0717	14.414	0.66711	774	0.48577	.;.;Zn-dependent metallo-hydrolase, RNA specificity domain;Zn-dependent metallo-hydrolase, RNA specificity domain;Zn-dependent metallo-hydrolase, RNA specificity domain;Zn-dependent metallo-hydrolase, RNA specificity domain;Zn-dependent metallo-hydrolase, RNA specificity domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1971.98	36	chr1	1312943	.	C	T	1971.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.960;DP=992;ExcessHet=0.0000;FS=3.270;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.01;ReadPosRankSum=0.396;SOR=0.816	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1437	20	0	1	0
chr1	1327705	1327705	G	A	exonic	CPTP	.	nonsynonymous SNV	CPTP:NM_001029885:exon3:c.G587A:p.R196H,	.	.	420	1091	11	0	0	11	0.00501596	.	.	2805477	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.13	T	0.004	B	0.001	B	0.908	N	1.000	N	1.01	L	.	.	-1.060	T	0.049	T	0.068	0.447	6.426	-7.41	-1.578	0.612	17.372	0.165	.	0.0029	0.00539137	0.0073	0.0015	0.0005	0.0001	0.0639	0.0040	0.0137	0.0095	0.0061383	949	154602	rs150672559	0.0053	0.0053	0.0052	0.0054	0.0096	0.0052	0.0052	0.0090	0.0088	0.0012	0.0005	3.828e-05	0.0006	0.0623	0.0069	0.0030	0.0038	0.0096	0.0074	0.0074	0.0046	0.0103	0.0072	0.0070	0.0069	0.0054	0.0047	0.0014	0	0.0009	0	0.0002	0.0759	0.0034	0.0031	0.0024	0.0072	0.267	0.16198	T	0.143	0.33219	T	0.004	0.12183	B	0.001	0.04355	B	0.908262	0.08571	N	0.953087	1	0.08975	N	0.58	0.15352	N	.	.	.	-0.77	0.21429	N	0.077	0.05162	-1.0599	0.11781	T	0.049	0.20987	T	9	0.0027572215	0.00043	T	.	.	.	0.165	0.42395	.	.	0.15556083564	0.15200	0.3042499643261352	0.30337	0.159076953761	0.17949	0.190905958414	0.00241	T	0.139094	0.47294	T	-0.645853	0.00077	T	-0.692966	0.06219	T	0.0043057328636276	0.00046	T	0.684232	0.29249	T	0.09764093	0.23018	0.14121509	0.33636	0.09764093	0.23017	0.14121509	0.33635	-5.096	0.37865	T	.	.	0.064	0.01622	B	.	.	0.282895	0.06599	3.089	0.88497534075742779	0.18024	0.02891	0.07678	N	AEFDBCI	0.106102	0.21181	N	-1.39097454191824	0.02722	0.1205953	-1.50454749327606	0.02309	0.1059861	0.999961495446834	0.48965	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.85	-7.41	0.01247	0.852000	0.27417	-1.609000	0.05069	-0.135000	0.12811	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.8013:0.0:0.1987:0.0	17.372	0.87270	764	0.49969	.	.	.	.	.	rs150672559	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	622.98	71	chr1	1327705	.	G	A	622.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.30;DP=1497;ExcessHet=0.0000;FS=5.116;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.65;ReadPosRankSum=1.10;SOR=1.429	GT:AD:DP:GQ:PL	0/0:66,0:66:99:0,120,1800	20	0	1	0
chr1	1333583	1333583	C	T	exonic	TAS1R3	.	nonsynonymous SNV	TAS1R3:NM_152228:exon6:c.C1678T:p.R560W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.719	P	0.894	N	1.000	N	1.5	L	-2.46	D	-0.203	T	0.680	D	0.243	1.492	10.94	3.03	0.672	0.909	10.876	0.222	0.164530840919	.	.	4.199e-05	0	0	0	0	7.67e-05	0	0	3.23e-05	5	154602	rs775171243	3.092e-05	3.283e-05	2.189e-05	4.004e-05	0.0003	2.358e-05	2.104e-05	0.0002	0.0002	0	2.237e-05	0	0.0003	0	0.0002	2.159e-05	6.629e-05	2.319e-05	1.313e-05	1.313e-05	1.284e-05	1.344e-05	0.0004	2.18e-06	8.2e-07	7.282e-05	3.026e-05	0	0	0	0	0	0	0	0	0	0.0004	0.011	0.55530	D	0.019	0.59159	D	0.999	0.77913	D	0.719	0.54822	P	0.893623	0.08670	N	0.952315	1	0.08975	N	1.735	0.44892	L	-2.46	0.88924	D	-3.42	0.67241	D	0.206	0.22870	-0.2034	0.77583	T	0.680	0.88940	D	10	0.3914526	0.54921	T	0.164531	0.84361	D	0.222	0.51872	0.493	0.58048	0.68171440691	0.67900	0.6084549249116443	0.60777	.	.	0.445022284985	0.31263	T	0.531608	0.83801	D	-0.121109	0.32943	T	-0.252264	0.49592	T	0.521421551704407	0.33417	D	0.864914	0.56300	D	0.08596081	0.19961	0.07769734	0.17334	0.08596081	0.19961	0.07769734	0.17333	-7.279	0.56046	T	.	.	0.185	0.40032	B	.	.	2.539158	0.32839	19.16	0.99697965911780906	0.80385	0.19637	0.20738	N	AEFDGBHCI	0.149532	0.27364	N	-0.464912231151988	0.23237	1.246438	-0.648867256746001	0.18245	0.9738311	0.999996661764298	0.74766	0.679555	0.55442	0	0.550933	0.16991	0	0.600882	0.32295	2	0.664235	0.64389	0	.	.	4.16	3.03	0.34070	0.870000	0.27662	1.243000	0.25119	-0.250000	0.07158	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6865:0.3135:0.0:0.0	10.876	0.46120	779	0.47767	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2025.98	39	chr1	1333583	.	C	T	2025.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.816;DP=1147;ExcessHet=0.0000;FS=3.346;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.47;ReadPosRankSum=-8.710e-01;SOR=0.426	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,114,1710	20	0	1	0
chr1	1334159	1334159	C	T	exonic	TAS1R3	.	nonsynonymous SNV	TAS1R3:NM_152228:exon6:c.C2254T:p.R752W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.935	P	0.128	B	0.494	N	1.000	N	1.47	L	-2.87	D	-0.402	T	0.541	D	0.44	1.225	9.969	2.65	0.530	1.291	11.780	0.408	0.148146394601	.	.	4.637e-05	0	0	0	0	9.276e-05	0	0	4.53e-05	7	154602	rs367565528	3.35e-05	4.174e-05	4.293e-05	2.392e-05	0.0003	2.595e-05	2.295e-05	6.127e-05	2.534e-05	0	0	0	0	0	0.0003	3.553e-05	1.687e-05	7.213e-05	3.939e-05	3.937e-05	5.138e-05	2.685e-05	0.0002	1.714e-05	1.129e-05	1.972e-05	1.124e-05	0	0	6.531e-05	0	0	0	0	5.881e-05	0	0.0002	0.027	0.46513	D	0.035	0.52389	D	0.935	0.52277	P	0.128	0.32786	B	0.494380	0.12021	N	0.779066	1	0.08975	N	1.855	0.49169	L	-2.87	0.91478	D	-3.45	0.67589	D	0.379	0.42050	-0.4017	0.71973	T	0.541	0.83099	D	10	0.7380151	0.74758	D	0.148146	0.83010	D	0.408	0.72022	0.733	0.86633	0.582670042736	0.57939	0.4982295269542248	0.49743	.	.	0.312632262707	0.12305	T	0.802309	0.94973	D	0.104641	0.64791	D	-0.0874676	0.64353	T	0.86818540096283	0.51816	D	0.826217	0.48957	T	0.29243672	0.52218	0.3212394	0.58073	0.29243672	0.52218	0.3212394	0.58072	-7.333	0.56430	T	.	.	0.147	0.32348	B	.	.	3.092610	0.41643	21.4	0.99494582213245675	0.67630	0.37110	0.25687	N	AEFBCI	0.307671	0.41448	N	-0.323654999984203	0.28251	1.556749	-0.407900323438354	0.24765	1.358003	0.999890112636074	0.45129	0.421363	0.06395	0	0.550933	0.16991	0	0.536957	0.11973	0	0.664235	0.64389	0	.	.	4.59	2.65	0.30588	1.412000	0.34322	3.255000	0.37052	0.587000	0.30956	0.006000	0.17386	0.098000	0.22634	0.195000	0.21750	0.3192:0.6808:0.0:0.0	11.780	0.51281	779	0.47767	GPCR family 3, C-terminal|GPCR family 3, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1175.98	39	chr1	1334159	.	C	T	1175.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.76;DP=1111;ExcessHet=0.0000;FS=1.586;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=-2.188e+00;SOR=0.870	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,114,1710	20	0	1	0
chr1	1334294	1334294	G	A	exonic	TAS1R3	.	nonsynonymous SNV	TAS1R3:NM_152228:exon6:c.G2389A:p.A797T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.14	B	0.029	B	0.755	N	1.000	N	0.48	N	-2.58	D	-0.609	T	0.436	T	0.197	-0.126	3.382	0.66	-0.015	1.483	8.494	0.142	0.0594219300049	.	.	.	.	.	.	.	.	.	.	.	.	.	rs147583678	1.028e-05	1.026e-05	8.178e-06	1.24e-05	0.0002	6.17e-06	4.89e-06	0.0001	8.677e-05	0.0002	0	0	2.522e-05	0	0	4.5e-06	0	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	0.09264	T	0.566	0.08930	T	0.14	0.27540	B	0.029	0.21540	B	0.755105	0.09669	N	0.893166	0.999994	0.08975	N	1.57	0.39626	L	-2.58	0.89757	D	-1.23	0.31170	N	0.098	0.07949	-0.6093	0.64433	T	0.436	0.77618	T	10	0.17795497	0.32855	T	0.059422	0.67659	D	0.142	0.37995	0.657	0.79482	0.585991418203	0.58272	0.3341795588107588	0.33330	.	.	0.220033034682	0.01312	T	0.212283	0.57328	T	-0.128951	0.31666	T	-0.253878	0.49434	T	0.0541126900571838	0.06208	T	0.719228	0.33234	T	0.16876955	0.37354	0.13909593	0.33198	0.16876955	0.37354	0.13909593	0.33197	-6.286	0.48611	T	.	.	0.113	0.22391	B	.	.	0.855099	0.12271	8.815	0.83169476397282949	0.14579	0.59660	0.30977	D	AEFDBCI	0.068336	0.13476	N	-0.723106417111171	0.15374	0.7741898	-0.704580083227927	0.16847	0.8931101	0.999646589612595	0.41316	0.421363	0.06395	0	0.550933	0.16991	0	0.536957	0.11973	0	0.645665	0.59343	0	.	.	4.59	0.66	0.17038	1.325000	0.33330	1.180000	0.24688	0.662000	0.56354	0.716000	0.28781	0.814000	0.27065	0.076000	0.17014	0.42:0.0:0.58:0.0	8.494	0.32277	779	0.47767	GPCR family 3, C-terminal|GPCR family 3, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2074.98	47	chr1	1334294	.	G	A	2074.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=1306;ExcessHet=0.0000;FS=1.241;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=-2.910e-01;SOR=0.827	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	20	0	1	0
chr1	1419158	1419158	G	A	exonic	ANKRD65	.	nonsynonymous SNV	ANKRD65:NM_001145210:exon4:c.C1142T:p.A381V,	.	.	419	1053	49	1	0	51	0.0236439	.	.	2805485	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.23	T	0.001	B	0.0	B	.	.	1.000	N	0.205	N	-0.37	T	-1.061	T	0.073	T	0.034	0.617	7.320	-6.72	-1.962	-2.021	2.814	0.029	.	.	0.00399361	0.0098	0.0009	0	0.0020	0	0.0089	0.0152	0.0132	0.0014295	221	154602	rs185838741	0.0032	0.0030	0.0029	0.0035	0.0152	0.0031	0.0031	0.0126	0.0116	0.0004	0.0050	0.0111	8.462e-05	0.0002	0.0152	0.0026	0.0044	0.0096	0.0026	0.0026	0.0025	0.0028	0.0089	0.0024	0.0023	0.0068	0.0060	0.0006	0.0022	0.0043	0.0124	0.0004	0	0.0136	0.0030	0.0047	0.0089	1.0	0.00964	T	0.565	0.08961	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-0.37	0.68892	T	0.21	0.04776	N	0.051	0.02272	-1.0608	0.11557	T	0.073	0.29675	T	9	0.002860576	0.00046	T	.	.	.	0.029	0.06676	.	.	0.0401082797425	0.02173	0.2554336714957737	0.25457	.	.	0.436058402061	0.30039	T	0.002318	0.01710	T	-0.638598	0.00085	T	-0.683114	0.06795	T	0.000585412339857197	0.00005	T	0.272373	0.04609	T	0.01873701	0.00396	0.031370908	0.01718	0.01873701	0.00396	0.031370908	0.01717	-3.897	0.22258	T	.	.	0.085	0.10256	B	.;.	.;.	-0.576677	0.01637	0.114	0.5647402424843313	0.05560	0.01396	0.04737	N	AEFDBCI	0.032353	0.03640	N	-1.71344732906075	0.00795	0.03435849	-1.82266737138785	0.00689	0.0306899	0.999999114923721	0.74766	0.646311	0.45356	0	0.655437	0.61614	1	0.645312	0.48771	0	0.613276	0.41899	0	.	.	3.36	-6.72	0.01591	-3.435000	0.00524	-2.759000	0.03391	-0.361000	0.05505	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1274:0.1153:0.5451:0.2123	2.814	0.05116	889	0.27310	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2356.98	96	chr1	1419158	.	G	A	2356.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.070e-01;DP=1297;ExcessHet=0.0000;FS=0.576;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.28;ReadPosRankSum=-1.239e+00;SOR=0.748	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1136	20	0	1	0
chr1	1419210	1419210	G	A	exonic	ANKRD65	.	nonsynonymous SNV	ANKRD65:NM_001145210:exon4:c.C1090T:p.R364W,	.	.	420	1097	5	0	0	5	0.00227376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.986	D	0.51	P	.	.	1.000	N	1.535	L	-0.36	T	-0.662	T	0.238	T	0.341	0.902	8.669	-3.98	-0.484	-1.078	14.568	0.208	.	.	0.00219649	0.0038	0	0.0090	0	0	0.0002	0	0.0069	0.0004981	77	154602	rs561097299	0.0007	0.0006	0.0005	0.0008	0.0061	0.0006	0.0006	0.0057	0.0055	0.0002	0.0001	0.0017	0	0	0.0025	0.0003	0.0006	0.0061	0.0004	0.0004	0.0003	0.0006	0.0089	0.0003	0.0003	0.0068	0.0061	2.406e-05	0	6.534e-05	0.0012	0	0	0	0.0002	0	0.0089	0.003	0.68238	D	0.004	0.74150	D	0.986	0.61523	D	0.51	0.47925	P	.	.	.	.	1	0.08975	N	2.94	0.84723	M	-0.36	0.68754	T	-3.95	0.73477	D	0.244	0.29313	-0.6619	0.62192	T	0.238	0.60499	T	9	0.006204158	0.00140	T	.	.	.	0.208	0.49714	.	.	0.149567049428	0.14543	0.5199102855663612	0.51914	.	.	0.622208237648	0.56040	T	0.054403	0.29715	T	-0.380208	0.03107	T	-0.316029	0.43007	T	0.129943870903778	0.15377	T	0.669833	0.27843	T	0.22040938	0.44595	0.28525153	0.54527	0.22040938	0.44595	0.28525153	0.54526	-7.714	0.59105	D	.	.	0.203	0.42806	B	.;.	.;.	2.285365	0.29230	18.05	0.87382691474106111	0.17188	0.01698	0.05402	N	AEFDBI	0.138513	0.25982	N	-0.858687819916673	0.11836	0.5734591	-1.09229790338135	0.07851	0.3835746	0.99993353468992	0.46732	0.646311	0.45356	0	0.732153	0.95553	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.18	-3.98	0.03810	-1.163000	0.03248	-1.009000	0.06620	-0.644000	0.04415	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:0.0:0.6491:0.3509	14.568	0.67786	889	0.27310	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1131.98	96	chr1	1419210	.	G	A	1131.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.571;DP=1171;ExcessHet=0.0000;FS=0.998;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.19;ReadPosRankSum=0.508;SOR=0.513	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1136	20	0	1	0
chr1	1419397	1419397	C	T	exonic	ANKRD65	.	stopgain	ANKRD65:NM_001375659:exon2:c.G362A:p.W121X	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	2.821	15.40	0.434	0.350	1.234	8.177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1002547176	3.577e-06	3.42e-06	5.648e-06	1.451e-06	2.781e-06	1.05e-06	7.6e-07	7.4e-07	2.1e-07	0	0	0	0	0	0	2.781e-06	3.45e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999955	0.52396	D	.	.	.	.	.	.	.	.	.	0.068	0.05542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.373484	0.03421	T	-0.774261	0.02631	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	0.469259	0.08386	5.143	0.94455477496260565	0.24891	0.13483	0.17882	N	AEFDBCI	0.022766	0.01179	N	-0.734770598846895	0.15050	0.7550733	-0.848325523253533	0.13328	0.6907904	0.997215502959795	0.35382	0.646311	0.45356	0	0.633563	0.54681	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.51	0.434	0.15752	1.088000	0.30489	1.330000	0.25662	0.287000	0.18726	0.041000	0.21027	1.000000	0.68203	0.081000	0.17303	0.0:0.6364:0.0:0.3636	8.177	0.30448	889	0.27310	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1548.98	38	chr1	1419397	.	C	T	1548.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.097e+00;DP=878;ExcessHet=0.0000;FS=0.660;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.20;ReadPosRankSum=-6.350e-01;SOR=0.765	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1136	20	0	1	0
chr1	1454379	1454379	A	G	exonic	ATAD3C	.	nonsynonymous SNV	ATAD3C:NM_001039211:exon4:c.A257G:p.Y86C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	3.055	M	-3.99	D	0.998	D	0.930	D	0.553	1.974	12.56	2.47	1.005	7.895	8.087	0.652	0.083401150303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9e-07	6.841e-07	0	1.388e-06	3.011e-05	0	0	.	.	3.011e-05	0	0	0	0	0	0	0	0	6.595e-06	6.571e-06	0	1.351e-05	2.426e-05	0	0	.	.	2.426e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000176	0.48594	D	0.187218	0.999999	0.58761	D	2.73	0.79844	M	-3.99	0.96308	D	-8.56	0.97398	D	0.97	0.98065	0.998	0.97160	D	0.930	0.97703	D	10	0.889097	0.88246	D	0.083401	0.74107	D	0.652	0.86886	0.571	0.69431	0.92752605749	0.92678	0.19306701125834397	0.19224	0.729035356424	0.62641	0.768867731094	0.77255	T	0.155703	0.49755	T	0.265844	0.80067	D	0.14409	0.79810	D	0.992788255214691	0.83359	D	0.956004	0.83260	D	0.84183687	0.86740	0.6856568	0.81516	0.84183687	0.86741	0.6856568	0.81517	-12.742	0.88272	D	.	.	0.189	0.40698	B	.	.	4.769574	0.77191	26.7	0.9925108458073072	0.56891	0.96032	0.67225	D	AEFBI	0.766226	0.70247	D	0.374383398248016	0.60038	4.188489	0.154707896233349	0.47393	2.970117	0.014735285952627	0.12632	0.646311	0.45356	0	0.588015	0.36545	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	2.47	2.47	0.29113	8.042000	0.89201	9.210000	0.79232	0.542000	0.25261	1.000000	0.71638	1.000000	0.68203	0.000000	0.00833	1.0:0.0:0.0:0.0	8.087	0.29939	867	0.32089	ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	884.98	37	chr1	1454379	.	A	G	884.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.58;DP=902;ExcessHet=0.0000;FS=5.588;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=51.36;MQRankSum=-1.153e+00;QD=9.83;ReadPosRankSum=-1.002e+00;SOR=1.325	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr1	1454412	1454412	G	A	exonic	ATAD3C	.	nonsynonymous SNV	ATAD3C:NM_001039211:exon4:c.G290A:p.R97H,	.	.	421	1083	17	1	0	19	0.00869565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.977	D	0.000	D	1.000	D	2.815	M	-3.46	D	0.933	D	0.896	D	0.371	2.540	14.45	2.47	1.219	8.342	10.118	0.618	.	.	0.00139776	0.0025	0.0003	0	0	0	0.0002	0.0018	0.0151	0.0013519	209	154602	rs572992447	0.0007	0.0008	0.0004	0.0011	0.0110	0.0007	0.0007	0.0104	0.0102	0.0001	0	3.842e-05	5.058e-05	0	0.0028	6.845e-05	0.0009	0.0110	0.0003	0.0003	0.0002	0.0005	0.0083	0.0003	0.0002	0.0063	0.0056	9.64e-05	0	0	0	0	0	0	0.0001	0	0.0083	0.009	0.57480	D	0.021	0.58089	D	1.0	0.90584	D	0.977	0.73820	D	0.000004	0.62929	D	0.062588	1	0.81001	D	2.565	0.75005	M	-3.46	0.94508	D	-4.46	0.77798	D	0.897	0.89689	0.933	0.96150	D	0.896	0.96548	D	10	0.019578815	0.00439	T	.	.	.	0.618	0.85144	.	.	0.935268674465	0.93459	0.19201238412604044	0.19119	0.521599372419	0.49927	0.629859805107	0.57126	T	0.098024	0.40143	T	-0.154887	0.27549	T	0.0141335	0.71251	D	0.137434613019176	0.16052	T	0.884811	0.60904	D	0.25087216	0.48092	0.14501208	0.34407	0.25087216	0.48092	0.14501208	0.34406	-11.074	0.80062	D	.	.	0.097	0.15877	B	.	.	4.657239	0.74301	26.1	0.99822682572362342	0.90502	0.96042	0.67270	D	AEFBI	0.729799	0.67740	D	0.26968118462816	0.54619	3.627008	0.0261499274633535	0.40931	2.450857	0.22694625616664	0.18421	0.554377	0.28877	0	0.573888	0.26702	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	2.47	2.47	0.29113	8.625000	0.90736	6.599000	0.56050	-0.329000	0.05792	1.000000	0.71638	1.000000	0.68203	0.001000	0.02609	0.0:0.0:1.0:0.0	10.118	0.41778	867	0.32089	ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1731.98	37	chr1	1454412	.	G	A	1731.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.190e-01;DP=927;ExcessHet=0.0000;FS=0.738;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.13;MQRankSum=-1.423e+00;QD=15.33;ReadPosRankSum=-7.830e-01;SOR=0.594	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr1	1462625	1462625	T	C	exonic	ATAD3C	.	nonsynonymous SNV	ATAD3C:NM_001039211:exon11:c.T1006C:p.Y336H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.966	D	0.615	P	0.000	D	1.000	D	2.275	M	-1.13	T	-0.285	T	0.431	T	0.5	2.220	13.38	2.46	1.001	7.577	9.174	0.523	0.0373475310858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.066e-06	2.737e-06	2.738e-06	1.387e-06	0.0005	5.5e-07	1.5e-07	0.0001	7.557e-05	0	0	0	0	0	0.0005	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	0.17701	T	0.39	0.15506	T	0.966	0.56202	D	0.615	0.51231	P	0.000002	0.62929	D	0.061993	0.999996	0.58761	D	2.835	0.82492	M	-1.13	0.77719	T	-4.24	0.76015	D	0.623	0.63798	-0.2853	0.75396	T	0.431	0.77284	T	10	0.77779806	0.77603	D	0.037348	0.57560	D	0.523	0.79765	0.545	0.65873	0.872295613195	0.87104	0.2807005451925002	0.27983	0.206839020483	0.23117	0.759431481361	0.75845	T	0.026053	0.19360	T	0.0700162	0.60851	D	-0.137203	0.60359	T	0.993415594100952	0.84204	D	0.966903	0.87955	D	0.37481618	0.58939	0.24725825	0.50252	0.37481618	0.58939	0.24725825	0.50251	-6.252	0.48341	T	.	.	0.275	0.50880	B	.	.	4.354815	0.66921	25.0	0.99391502065640458	0.62383	0.92755	0.56466	D	ALL	0.737232	0.68249	D	0.161577276332382	0.49361	3.137406	0.030649658475164	0.41145	2.467126	0.999999999999971	0.74766	0.700653	0.57754	0	0.218748	0.04544	0	0.717052	0.78885	0	0.562822	0.20929	0	.	.	2.46	2.46	0.29032	5.765000	0.68486	7.740000	0.67992	0.386000	0.20455	1.000000	0.71638	1.000000	0.68203	0.124000	0.19330	0.0:0.0:0.0:1.0	9.174	0.36259	856	0.34373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2018.98	35	chr1	1462625	.	T	C	2018.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.085e+00;DP=858;ExcessHet=0.0000;FS=4.845;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=-2.040e-01;SOR=0.422	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1319	20	0	1	0
chr1	1478731	1478731	C	T	exonic	ATAD3B	.	nonsynonymous SNV	ATAD3B:NM_001317238:exon1:c.C232T:p.R78W	.	.	458	1050	13	1	0	15	0.0070922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.967	D	0.000	D	1.000	D	1.935	M	-2.08	D	0.324	D	0.681	D	0.427	2.499	14.32	1.62	1.501	2.553	7.357	0.456	.	0.0013	0.00179712	0.0062	0.0007	0	0	0	0.0036	0.0068	0.0100	0.0008409	130	154602	rs202031472	0.0039	0.0037	0.0037	0.0040	0.0069	0.0038	0.0038	0.0064	0.0062	0.0009	0.0013	4.003e-05	2.811e-05	0.0003	0.0054	0.0042	0.0033	0.0069	0.0025	0.0026	0.0026	0.0025	0.0067	0.0023	0.0022	0.0047	0.0041	0.0009	0	0.0027	0	0	0	0.0035	0.0038	0.0032	0.0067	0.001	0.78490	D	0.003	0.76473	D	0.999	0.77913	D	0.967	0.71530	D	0.000227	0.47286	D	0.140436	0.663261	0.81001	D	1.995	0.54099	M	-2.08	0.86010	D	-4.74	0.80172	D	0.318	0.35832	0.324	0.87938	D	0.681	0.88981	D	10	0.009978145	0.00224	T	.	.	.	0.456	0.75483	.	.	0.825186229873	0.82353	0.0755819370629022	0.07494	1.99237969239	0.93758	0.838588953018	0.87880	D	0.087938	0.38051	T	0.0920444	0.63418	D	-0.105561	0.62963	T	0.0573898437132183	0.06752	T	0.982102	0.93912	D	0.331858	0.55623	0.27901825	0.53866	0.331858	0.55623	0.27901825	0.53865	-8.841	0.66668	D	.	.	.	.	.	.	.	4.355797	0.66946	25.0	0.99808990911133344	0.89264	0.63710	0.32174	D	AEFBI	0.253162	0.37271	N	0.25135986018243	0.53704	3.538363	0.114161420916605	0.45271	2.793328	0.868512869840288	0.25367	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	2.7	1.62	0.22817	1.671000	0.37129	1.038000	0.23534	0.510000	0.23265	0.833000	0.30177	0.451000	0.24953	0.816000	0.38450	0.5006:0.4993:0.0:0.0	7.357	0.25900	856	0.34373	ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	334.98	19	chr1	1478731	.	C	T	334.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.98;DP=393;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=39.43;MQRankSum=1.45;QD=15.95;ReadPosRankSum=0.352;SOR=0.610	GT:AD:DP:GQ:PL	0/0:26,0:26:54:0,54,810	20	0	1	0
chr1	1495701	1495701	T	-	exonic	ATAD3B	.	frameshift deletion	ATAD3B:NM_001317238:exon14:c.1693delT:p.C565Afs*109	.	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0089	.	0.0064	0.0013	0.0032	0.0001	0.0040	0.0103	0.0023	0.0008	7.68e-05	2	26028	rs776634721	0.0001	0.0034	9.739e-05	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	8.966e-05	0.0001	0	0	0.0002	0.0003	0.0001	0.0001	3.483e-05	1.975e-05	0.0002	1.287e-05	2.697e-05	4.425e-05	5.25e-06	2.46e-06	1.175e-05	6.26e-06	0	0	0	0	0	0	0	4.425e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	230.94	146	chr1	1495700	.	CT	C	230.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.737;DP=1539;ExcessHet=0.0000;FS=12.554;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.29;MQRankSum=-6.333e+00;QD=1.31;ReadPosRankSum=-3.126e+00;SOR=2.049	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1096	20	0	1	0
chr1	1520597	1520597	T	C	exonic	ATAD3A	.	nonsynonymous SNV	ATAD3A:NM_001170535:exon7:c.T730C:p.W244R	Harel-Yoon syndrome, Autosomal recessive, Autosomal dominant	.	415	1085	22	0	0	22	0.0100365	.	.	2839839	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.85	T	0.001	B	0.008	B	0.000	N	1.000	D	1.225	L	1.0	T	-0.307	T	0.620	D	0.461	-1.952	0.007	3.28	0.184	3.672	11.643	0.071	0.332367645262	.	.	0.0002	9.625e-05	8.643e-05	0	0	0.0001	0	0.0005	1.94e-05	3	154602	rs2767468	0.0004	0.0006	0.0004	0.0004	0.0035	0.0003	0.0003	0.0023	0.0019	0.0002	0.0002	0	0.0002	0	0.0035	0.0004	0.0004	0.0005	0.0002	0.0009	0.0001	0.0003	0.0017	0.0002	0.0001	0.0008	0.0006	0.0003	0	0.0002	0	0.0002	0	0.0034	0.0001	0	0.0017	0.839	0.02825	T	0.841	0.04965	T	0.001	0.07471	B	0.008	0.13708	B	0.000002	0.62929	N	0.063421	0.999913	0.53665	D	0.995	0.25082	L	-3.0	0.93352	D	-6.95	0.94352	D	0.479	0.51494	-0.3070	0.74790	T	0.620	0.86618	D	10	0.19466835	0.35287	T	0.332368	0.91787	D	0.336	0.65816	0.583	0.70990	0.784197563543	0.78219	0.8997627746519212	0.89948	0.593987100731	0.54729	0.550479531288	0.45925	T	0.122339	0.44593	T	0.0944643	0.63688	D	-0.102085	0.63236	T	0.0701929091246324	0.08678	T	0.535446	0.17943	T	0.3268352	0.55211	0.39737242	0.64354	0.415586	0.61797	0.40001217	0.64549	-4.84	0.48149	T	0.20377204074795494	0.27139	0.351	0.61755	A	.;.;.	.;.;.	2.661937	0.34679	19.69	0.20906440186603245	0.00773	0.88584	0.48580	D	AEFGBI	0.341212	0.43777	N	-0.949316226723773	0.09707	0.4606452	-0.820431655846448	0.14000	0.7293059	0.128589634574862	0.17043	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.42	3.28	0.36691	3.387000	0.52240	4.879000	0.45646	-0.872000	0.02536	1.000000	0.71638	1.000000	0.68203	0.027000	0.12703	0.0:0.0804:0.0:0.9196	11.643	0.50502	846	0.36215	.;ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	86.98	35	chr1	1520597	.	T	C	86.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.540e-01;DP=994;ExcessHet=0.0000;FS=22.086;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.08;MQRankSum=-1.362e+01;QD=0.33;ReadPosRankSum=-1.774e+00;SOR=2.379	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1179	20	0	1	0
chr1	1525277	1525277	C	T	exonic	ATAD3A	.	nonsynonymous SNV	ATAD3A:NM_001170535:exon12:c.C1252T:p.R418W	Harel-Yoon syndrome, Autosomal recessive, Autosomal dominant	.	412	1109	1	0	0	1	0.000450653	.	.	2203208	Inborn_genetic_diseases|Harel-Yoon_syndrome	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014958,MedGen:C4310677,OMIM:617183,Orphanet:496790	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.991	D	0.000	D	1.000	D	3.735	H	-3.26	D	0.138	D	0.550	D	0.864	2.093	12.96	2.42	0.204	0.333	10.867	0.215	0.102856342077	0.0002	0.000199681	0.0002	9.649e-05	0	0.0001	0	0.0001	0	0.0011	0.0002005	31	154602	rs139254288	0.0001	0.0001	8.305e-05	0.0001	0.0014	9.604e-05	9.084e-05	0.0007	0.0007	0.0002	2.236e-05	0	0.0003	0	0.0014	3.867e-05	0.0002	0.0009	0.0001	0.0001	0.0001	0.0002	0.0006	9.152e-05	7.706e-05	0.0002	0.0001	0.0003	0	0	0	0.0002	0	0	7.352e-05	0	0.0006	0.0	0.91255	D	0.023	0.63109	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999978	0.54805	D	4.045	0.97016	H	-3.26	0.93587	D	-7.36	0.95511	D	0.741	0.77039	0.138	0.84855	D	0.550	0.83527	D	10	0.67505985	0.70941	D	0.102856	0.77656	D	0.743	0.91112	.	.	0.948121439518	0.94758	0.8804251713247512	0.88010	0.596502844283	0.54888	0.823670804501	0.85590	D	0.746203	0.95748	D	0.123577	0.66728	D	0.348386	0.90253	D	0.369482979668987	0.27777	T	0.987201	0.97673	D	0.65672094	0.75723	0.48456365	0.70163	0.65672094	0.75724	0.48456365	0.70164	-14.331	0.94083	D	0.7462835926538849	0.82838	0.483	0.63820	A	.;.;.;.	.;.;.;.	3.524873	0.49431	22.8	0.99728345898339754	0.82549	0.36526	0.25553	N	AEFGBI	0.587077	0.58487	D	-0.186267832213533	0.33706	1.915303	-0.312275443445523	0.27702	1.539042	0.035677837938269	0.14211	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.84	2.42	0.28720	0.295000	0.18821	1.829000	0.29100	-0.302000	0.06182	0.771000	0.29368	0.499000	0.25194	0.002000	0.04165	0.6825:0.3175:0.0:0.0	10.867	0.46067	846	0.36215	.;ATPase, AAA-type, core|AAA+ ATPase domain;.;ATPase, AAA-type, core	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1572.98	34	chr1	1525277	.	C	T	1572.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=884;ExcessHet=0.0000;FS=1.324;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=0.021;SOR=0.680	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1259	20	0	1	0
chr1	1615612	1615612	C	A	exonic	MIB2	.	stopgain	MIB2:NM_001170688:exon1:c.C153A:p.C51X,	.	.	405	1108	9	0	0	9	0.00404494	.	.	215186	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	2.923	15.74	0.434	-0.041	-1.236	3.998	.	.	0.0011	.	0.0042	0.0005	0.0031	0.0007	0	0.0078	0	0.0007	0.0009379	145	154602	rs199741261	0.0012	0.0012	0.0011	0.0012	0.0083	0.0011	0.0011	0.0064	0.0057	0.0002	0.0013	0.0298	0	0	0.0083	0.0005	0.0035	0.0005	0.0014	0.0014	0.0013	0.0014	0.0010	0.0012	0.0012	0.0007	0.0007	7.216e-05	0	0.0010	0.0343	0	0	0.0137	0.0009	0.0038	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.102	0.13055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.352183	0.04590	T	-0.308742	0.43794	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Recessive	.;.;.;High	0.172966	0.05618	2.069	0.97635255178158264	0.35046	0.01743	0.05498	N	AEFGBHCIJ	0.031329	0.03323	N	-0.439352867474657	0.24103	1.299078	-0.853123424869877	0.13212	0.6841909	0.999999999604182	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	1.43	0.434	0.15752	-0.758000	0.04872	-2.227000	0.04029	-1.132000	0.01454	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7509:0.0:0.2491	3.998	0.09056	804	0.43891	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	500.98	34	chr1	1615612	.	C	A	500.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.660e-01;DP=744;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.63;ReadPosRankSum=-2.110e-01;SOR=0.709	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1001	20	0	1	0
chr1	1624901	1624989	GGTGAGTGGAGGCAGAGGGGCGGGGTCAGGGCTGGGCTGTGGCTGGCTCATGGCTCAGCCTTAGCCTGCTGGGGGGGCCTCTTTCCCCA	-	exonic	MIB2	.	frameshift deletion	MIB2:NM_001170686:exon5:c.700delG:p.G234Efs*26	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.583e-06	0	0	0	0	1.55e-05	0	0	.	.	.	.	2.055e-06	2.736e-06	2.725e-06	1.377e-06	1.16e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1197.94	44	chr1	1624900	.	TGGTGAGTGGAGGCAGAGGGGCGGGGTCAGGGCTGGGCTGTGGCTGGCTCATGGCTCAGCCTTAGCCTGCTGGGGGGGCCTCTTTCCCCA	T	1197.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.60;DP=980;ExcessHet=0.0000;FS=4.033;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.22;ReadPosRankSum=0.746;SOR=0.971	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr1	1625185	1625284	GGTATGAGGCTGTCACACTGACTCCATCAGCCCTCCTGCCTTGGCTGAAGTCCCAGAGGGGAGGGGCCGCTGCCTGAGGCCTGGTCTGCCACCCTCCGCA	-	exonic	MIB2	.	frameshift deletion	MIB2:NM_001170686:exon6:c.895delG:p.G299Afs*10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.062e-06	2.736e-06	2.732e-06	1.384e-06	1.163e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.805e-06	0	1.163e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1523.94	44	chr1	1625184	.	CGGTATGAGGCTGTCACACTGACTCCATCAGCCCTCCTGCCTTGGCTGAAGTCCCAGAGGGGAGGGGCCGCTGCCTGAGGCCTGGTCTGCCACCCTCCGCA	C	1523.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.06;DP=1017;ExcessHet=0.0000;FS=0.557;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.54;ReadPosRankSum=-1.009e+00;SOR=0.614	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr1	1625427	1625543	AGGTGAGCCGCCCCGCCGTGGAGCCCTGTGTGCCCTGCCCTCCCAGCCCTCCGCCCCCTCAGCCCCTTCCTCCCCAAGCGTCCAGCCCGACCCAGCCACAGCTCCATGACCCGCCAC	-	exonic	MIB2	.	frameshift deletion	MIB2:NM_001170688:exon6:c.1013_1014del:p.E338Vfs*53	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	.	.	.	.	2.123e-06	2.736e-06	2.801e-06	1.43e-06	1.234e-05	5.7e-07	1.6e-07	3.1e-07	1.1e-07	0	0	0	0	0	0	1.836e-06	0	1.234e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1168.94	44	chr1	1625426	.	GAGGTGAGCCGCCCCGCCGTGGAGCCCTGTGTGCCCTGCCCTCCCAGCCCTCCGCCCCCTCAGCCCCTTCCTCCCCAAGCGTCCAGCCCGACCCAGCCACAGCTCCATGACCCGCCAC	G	1168.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.60;DP=1052;ExcessHet=0.0000;FS=4.351;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.46;ReadPosRankSum=0.860;SOR=1.000	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr1	1626755	1626836	GTGAGTCCCCCTGCCACCCCCGCCGCTAGCGCCGCTGCCCCCCACACCTGCAGCCTGCTGTGACCCCCTCCCCTCCCCGCAG	-	splicing	MIB2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.792e-06	2.736e-06	2.769e-06	2.815e-06	2.408e-05	6.5e-07	4.4e-07	4e-06	1.5e-06	0	0	0	0	0	0	1.818e-06	0	2.408e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2703.94	35	chr1	1626754	.	TGTGAGTCCCCCTGCCACCCCCGCCGCTAGCGCCGCTGCCCCCCACACCTGCAGCCTGCTGTGACCCCCTCCCCTCCCCGCAG	T	2703.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.95;DP=1046;ExcessHet=0.0000;FS=4.589;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.98;ReadPosRankSum=1.71;SOR=0.562	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1103	20	0	1	0
chr1	1627000	1627073	GTGCGGCACAGCTCAGGCGGCCAGTGGGAGGTGGGGCTGCCCCTGGCCACCACTAACCTCAGCCCTGCCCCCAG	-	splicing	MIB2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-06	2.736e-06	2.728e-06	0	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1703.94	35	chr1	1626999	.	AGTGCGGCACAGCTCAGGCGGCCAGTGGGAGGTGGGGCTGCCCCTGGCCACCACTAACCTCAGCCCTGCCCCCAG	A	1703.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.45;DP=1013;ExcessHet=0.0000;FS=4.536;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.04;ReadPosRankSum=-6.790e-01;SOR=1.037	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1103	20	0	1	0
chr1	1627204	1627291	GCAGGCAAGCTCCTGACCCCGTCCTCCCATACTGGCCAGTCTGAGAGTGAGGGGCAGAGGGCCAGGGACTCACCTGCTGGCACTCTTG	-	exonic	MIB2	.	frameshift deletion	MIB2:NM_001170688:exon10:c.1521_1524del:p.Q508Wfs*22	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.473e-05	0	0	0	0	2.643e-05	0	0	.	.	.	.	2.066e-06	2.736e-06	2.738e-06	1.385e-06	1.171e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.805e-06	0	1.171e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1602.94	35	chr1	1627203	.	AGCAGGCAAGCTCCTGACCCCGTCCTCCCATACTGGCCAGTCTGAGAGTGAGGGGCAGAGGGCCAGGGACTCACCTGCTGGCACTCTTG	A	1602.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.00;DP=1051;ExcessHet=0.0000;FS=2.635;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.79;ReadPosRankSum=0.307;SOR=0.795	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1204	20	0	1	0
chr1	1628180	1628272	GTGAGTGTGGGGTGGGCACACAGCTGCAGCCGGCCTCTTGCTGTGCTGCCTGGGGGCAGTCCCAGGTCCCAGACCAACCTCCCTGCTCCACAG	-	splicing	MIB2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	2.736e-06	2.724e-06	1.376e-06	1.159e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2222.94	36	chr1	1628179	.	TGTGAGTGTGGGGTGGGCACACAGCTGCAGCCGGCCTCTTGCTGTGCTGCCTGGGGGCAGTCCCAGGTCCCAGACCAACCTCCCTGCTCCACAG	T	2222.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.96;DP=1014;ExcessHet=0.0000;FS=7.624;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.48;ReadPosRankSum=0.073;SOR=0.680	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr1	1628311	1628311	T	G	exonic	MIB2	.	nonsynonymous SNV	MIB2:NM_001170688:exon14:c.T2030G:p.V677G	.	.	420	1089	11	2	0	15	0.00683995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.934	D	0.000	D	1.000	D	3.655	H	-0.24	T	0.220	D	0.472	T	0.892	3.883	19.74	4.15	1.728	2.382	12.489	0.544	.	.	0.00279553	0.0015	0.0001	8.783e-05	0	0	0.0005	0.0012	0.0082	0.0012484	193	154602	rs193243389	0.0008	0.0008	0.0005	0.0010	0.0085	0.0007	0.0007	0.0080	0.0078	2.987e-05	4.474e-05	0	0	1.914e-05	0.0017	0.0003	0.0010	0.0085	0.0005	0.0005	0.0004	0.0006	0.0068	0.0004	0.0004	0.0050	0.0044	0	0	0.0004	0	0	0	0	0.0005	0.0005	0.0068	0.018	0.51248	D	0.034	0.52727	D	0.972	0.57405	D	0.883	0.62698	P	0.000118	0.50451	D	0.134298	1	0.81001	D	.	.	.	-0.24	0.66834	T	-5.85	0.88699	D	0.686	0.69213	0.220	0.86254	D	0.472	0.79711	T	10	0.015547216	0.00326	T	.	.	.	0.544	0.81018	.	.	0.773115707662	0.77103	0.8263480128245788	0.82592	0.475255745928	0.46707	0.45295971632	0.32348	T	.	.	.	-0.0296474	0.47469	T	0.189905	0.82564	D	0.166179281705954	0.18316	T	0.923208	0.76101	D	.	.	.	.	.	.	.	.	-10.931	0.81627	D	.	.	0.369	0.63129	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.850228	0.79271	27.1	0.99704458980972599	0.80867	0.87004	0.46417	D	AEFGBCI	0.680580	0.64423	D	0.537653498242244	0.69334	5.342127	0.44884252045586	0.64642	4.724163	0.999998675084358	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.15	4.15	0.47978	1.150000	0.31250	3.421000	0.38252	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	12.489	0.55230	809	0.43032	.;.;.;.;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1995.98	36	chr1	1628311	.	T	G	1995.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=947;ExcessHet=0.0000;FS=8.450;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.10;ReadPosRankSum=0.874;SOR=0.805	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr1	1628398	1628486	AGGTGCGGACGCGGCCCAGTCCTGCCCAAGGACCGGGGAGCGGGAGGCCCACTGGGGTCCCTGGGCTGAGCCCGTCCCCACCCCTCCCC	-	exonic	MIB2	.	frameshift deletion	MIB2:NM_001170688:exon14:c.2117_2118del:p.E706Gfs*4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.012e-06	0	0	0	0	1.616e-05	0	0	.	.	.	.	2.056e-06	2.736e-06	2.727e-06	1.377e-06	1.16e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2338.94	36	chr1	1628397	.	GAGGTGCGGACGCGGCCCAGTCCTGCCCAAGGACCGGGGAGCGGGAGGCCCACTGGGGTCCCTGGGCTGAGCCCGTCCCCACCCCTCCCC	G	2338.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.36;DP=948;ExcessHet=0.0000;FS=2.994;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.00;ReadPosRankSum=2.17;SOR=0.825	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485	20	0	1	0
chr1	1628684	1628684	G	A	exonic	MIB2	.	nonsynonymous SNV	MIB2:NM_001170688:exon15:c.G2314A:p.A772T	.	.	406	1107	9	0	0	9	0.00404858	.	.	696233	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.29	T	0.583	P	0.234	B	0.258	N	0.976	N	1.1	L	1.3	T	-1.023	T	0.084	T	0.309	0.935	8.810	2.91	0.817	0.434	7.378	0.011	0.0316488626096	0.0024	0.000199681	0.0040	0.0008	0.0033	0	0	0.0068	0.0043	0.0009	0.0018111	280	154602	rs201947158	0.0036	0.0036	0.0036	0.0036	0.0068	0.0035	0.0035	0.0048	0.0042	0.0009	0.0019	0.0004	0	0.0001	0.0068	0.0043	0.0026	0.0014	0.0026	0.0026	0.0026	0.0025	0.0044	0.0023	0.0023	0.0036	0.0033	0.0010	0.0066	0.0044	0	0	0	0.0102	0.0038	0.0009	0.0021	0.109	0.29288	T	0.31	0.32891	T	0.011	0.15914	B	0.013	0.16460	B	0.258115	0.15371	N	0.626746	0.976259	0.25385	N	.	.	.	1.26	0.66834	T	-1.07	0.27876	N	0.198	0.29544	-1.0232	0.22671	T	0.084	0.32757	T	10	0.007967323	0.00181	T	0.031649	0.53678	D	0.011	0.01250	.	.	0.588023434665	0.58477	0.5382174987818832	0.53746	0.61582868066	0.56069	0.594121456146	0.52076	T	0.272434	0.64482	T	-0.399934	0.02317	T	-0.347535	0.39488	T	0.0778941512107849	0.09715	T	0.911709	0.69895	D	.	.	.	.	.	.	.	.	-5.033	0.37579	T	.	.	0.071	0.10545	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.456864	0.31646	18.80	0.98677947745528782	0.44568	0.55090	0.29777	D	AEFDGBHCI	0.102406	0.20544	N	-0.0366209441383794	0.40202	2.383496	-0.0195370043239827	0.38834	2.293616	0.999999570136493	0.74766	0.72623	0.87236	0	0.581341	0.33841	0	0.594344	0.31042	0	0.699875	0.68795	0	.	.	3.83	2.91	0.32903	0.084000	0.14738	2.728000	0.34366	0.614000	0.49286	0.009000	0.18154	1.000000	0.68203	0.997000	0.79791	0.217:0.0:0.783:0.0	7.378	0.26015	809	0.43032	.;.;.;.;.;Ankyrin repeat-containing domain;Ankyrin repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	468.98	31	chr1	1628684	.	G	A	468.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.697e+00;DP=739;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=0.669;SOR=0.631	GT:AD:DP:GQ:PL	0/0:35,0:35:93:0,93,1395	20	0	1	0
chr1	1629311	1629383	GGTGAGTCCGTGGACGGCGGGGATGGGGTCCGGCGGCCTCCGGGCCCCTCTCAAGCCGCCTCCTCCCCCTGCA	-	exonic	MIB2	.	frameshift deletion	MIB2:NM_001170688:exon16:c.2531delG:p.E845Sfs*22	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.243e-06	2.736e-06	1.478e-06	3.024e-06	2.852e-05	6e-07	1.7e-07	4.73e-06	1.77e-06	0	0	0	0	0	0	9.376e-07	0	2.852e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	824.94	34	chr1	1629310	.	CGGTGAGTCCGTGGACGGCGGGGATGGGGTCCGGCGGCCTCCGGGCCCCTCTCAAGCCGCCTCCTCCCCCTGCA	C	824.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.07;DP=833;ExcessHet=0.0000;FS=0.828;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.05;ReadPosRankSum=1.31;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,934	20	0	1	0
chr1	1629566	1629637	GGTGAGTGGGGGGCCCCGGGGTGGGGAGGCCCGGCTAGTAGGGCCGCAGCCAACCGCGCTCTCCTCTTCGCA	-	exonic	MIB2	.	frameshift deletion	MIB2:NM_001170688:exon17:c.2713delG:p.E905Sfs*6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.11e-07	4.104e-06	1.406e-06	0	9.205e-07	0	0	.	.	0	0	0	0	0	0	9.205e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	473.94	50	chr1	1629565	.	GGGTGAGTGGGGGGCCCCGGGGTGGGGAGGCCCGGCTAGTAGGGCCGCAGCCAACCGCGCTCTCCTCTTCGCA	G	473.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.24;DP=1051;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.15;ReadPosRankSum=-7.470e-01;SOR=0.724	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1399	20	0	1	0
chr1	1641732	1641732	-	TCC	exonic	CDK11B	.	nonframeshift insertion	CDK11B:NM_033487:exon7:c.170_171insGGA:p.E67_T68insE	.	.	152	1341	7	2	20	31	0.00408466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	988.17	21	chr1	1641723	.	TTCCTCCTCC	T,TTCCTCCTCCTCC	988.17	.	AC=2,2;AF=0.050,0.050;AN=40;DP=638;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=1,2;MLEAF=0.025,0.050;MQ=36.74;QD=32.97;SOR=1.708	GT:AD:DP:GQ:PL	0/0:33,0,0:33:99:0,99,1075,99,1075,1075	18	1	0	1
chr1	1652477	1652477	T	C	exonic	CDK11B	.	nonsynonymous SNV	CDK11B:NM_001291345:exon4:c.A317G:p.K106R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.475e-06	1.368e-06	0	2.977e-06	0.0002	2.5e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.34e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.552	0.15842	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.319	0.44666	.	.	.	.	.	.	.	0.28853494	0.46435	T	.	.	.	.	.	.	.	.	.	0.06272692427002431	0.06212	.	.	.	.	.	0.09342	0.39207	T	.	.	.	.	.	.	.	.	.	0.784922	0.43550	T	.	.	.	.	.	.	.	.	-5.432	0.41511	T	.	.	0.225	0.46608	B	.;.;.	.;.;.	4.703844	0.75492	26.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.576000	0.81770	7.801000	0.69150	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	.	.	.	794	0.45591	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3263.98	35	chr1	1652477	.	T	C	3263.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.814e+00;DP=937;ExcessHet=0.0000;FS=1.555;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.91;MQRankSum=0.129;QD=13.49;ReadPosRankSum=0.462;SOR=0.585	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1338	20	0	1	0
chr1	1708845	1708845	C	T	exonic	CDK11A	.	nonsynonymous SNV	CDK11A:NM_001313896:exon9:c.G961A:p.E321K	.	.	67	1446	7	0	2	9	0.00241463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.673	P	0.281	B	0.001	N	1.000	D	1.87	L	3.47	T	-0.970	T	0.017	T	0.445	0.572	7.091	1.84	1.434	2.743	7.263	0.087	0.0302105048647	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1225816713	8.693e-07	2.783e-06	0	1.733e-06	1.172e-06	0	0	.	.	0	0	0	0	0	0	1.172e-06	0	0	2.455e-05	2.152e-05	3.17e-05	1.692e-05	8.492e-05	6.52e-06	2.81e-06	8.91e-06	3.33e-06	5.377e-05	0	8.492e-05	0	0	0	0	0	0	0	0.158	0.57480	T	0.56	0.11115	T	0.673	0.41222	P	0.281	0.40336	B	0.001104	0.40219	N	0.271361	0.909234	0.81001	D	1.955	0.52871	M	3.47	0.05188	T	-0.13	0.10136	N	0.348	0.40665	-0.9695	0.37304	T	0.017	0.06902	T	10	0.14012855	0.26638	T	0.030211	0.52566	D	0.087	0.25287	0.138	0.04187	0.176091768786	0.17195	0.07914336068269959	0.07849	0.217344145385	0.24254	.	.	.	0.018861	0.15131	T	-0.132016	0.31171	T	-0.427408	0.30230	T	0.475448995828629	0.31731	T	0.950605	0.83071	D	0.052149363	0.09685	0.07298679	0.15810	0.052149363	0.09685	0.07298679	0.15809	-9.491	0.71058	D	.	.	0.328	0.58715	B	.;.;.;.;.;.	.;.;.;.;.;.	3.567234	0.50221	22.9	0.97384242455105652	0.33691	0.72658	0.35556	D	AEFI	0.365857	0.45388	N	-0.122115038323663	0.36430	2.105685	-0.106217751864967	0.35138	2.029386	1.06106871247574E-4	0.05123	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	2.82	1.84	0.24348	2.965000	0.48892	2.823000	0.34975	0.265000	0.18437	0.998000	0.41325	0.244000	0.23872	0.375000	0.26223	0.0:0.8581:0.0:0.1419	7.263	0.25387	649	0.63102	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	761.98	34	chr1	1708845	.	C	T	761.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.45;DP=858;ExcessHet=0.0000;FS=3.027;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=38.85;MQRankSum=-1.044e+00;QD=9.65;ReadPosRankSum=1.22;SOR=0.941	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr1	1752908	1752908	-	CCTCCT	exonic	NADK	.	nonframeshift insertion	NADK:NM_001198995:exon10:c.1240_1241insAGGAGG:p.E413_G414insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0013	0.0013	0.0016	0	0.0018	0.0093	0.0161	0.0003074	8	26028	rs150880809	0.0039	0.0041	0.0034	0.0044	0.0211	0.0038	0.0038	0.0203	0.0200	0.0040	0.0042	0.0015	0.0026	0.0003	0.0130	0.0028	0.0048	0.0211	0.0044	0.0045	0.0041	0.0047	0.0232	0.0041	0.0040	0.0197	0.0184	0.0042	0.0111	0.0037	0.0012	0.0042	0.0006	0.0171	0.0038	0.0107	0.0232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22075.32	36	chr1	1752908	.	C	CCCT,CCCTCCT	22075.32	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-6.990e-01;DP=1313;ExcessHet=0.1361;FS=0.555;InbreedingCoeff=0.2741;MLEAC=14,1;MLEAF=0.333,0.024;MQ=59.91;MQRankSum=0.00;QD=26.12;ReadPosRankSum=0.088;SOR=0.757	GT:AD:DP:GQ:PL	1/2:0,38,33:71:99:3140,1367,1215,1576,0,1458	10	3	7	0
chr1	1919216	1919224	AGCGGCAGC	-	exonic	TMEM52	.	nonframeshift deletion	TMEM52:NM_178545:exon1:c.42_50del:p.L24_L26del,	.	.	378	1142	2	0	0	2	0.000874891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs939843707	0.0001	0.0001	0.0001	0.0002	0.0020	0.0001	0.0001	0.0009	0.0006	4.521e-05	0.0001	0	0	0	0.0020	0.0002	8.359e-05	0	6.87e-05	6.509e-05	8.924e-05	4.704e-05	0.0002	3.526e-05	2.634e-05	3.417e-05	2.174e-05	2.529e-05	0	0.0002	0	0	0	0	8.845e-05	0.0006	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1017.08	55	chr1	1919215	.	GAGCGGCAGC	G	1017.08	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0316;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.49;ReadPosRankSum=-1.194e+00;SOR=0.577	GT:AD:DP:GQ:PL	0/0:33,0:33:96:0,96,1440	20	0	1	0
chr1	1968645	1968645	G	A	exonic	CFAP74	.	nonsynonymous SNV	CFAP74:NM_001304360:exon11:c.C1235T:p.T412M,	.	.	430	1089	2	1	0	4	0.00183318	.	.	3304235	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.029	B	0.004	B	0.000	N	1.000	N	0	N	.	.	-1.036	T	0.043	T	0.12	-0.156	3.238	-5.78	-2.280	-2.169	6.070	0.044	.	0.0002	0.000399361	0.0001	0.0001	0.0003	0.0005	0	4.507e-05	0.0011	0.0002	0.0001164	18	154602	rs150108692	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	0.0002	0.0001	0	0.0003	0	0.0003	0	0.0002	0.0001	6.626e-05	0.0001	7.413e-05	7.239e-05	6.595e-05	8.269e-05	0.0004	4.07e-05	3.2e-05	7.173e-05	2.985e-05	2.455e-05	0	0.0002	0	0.0004	0	0	7.549e-05	0	0	.	.	.	0.13	0.34716	T	0.003	0.11197	B	0.002	0.06944	B	0.000001	0.00162	N	14.379500	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.077	0.05162	-1.0357	0.18637	T	0.043	0.18701	T	9	0.013397962	0.00284	T	.	.	.	.	.	.	.	0.0138822411134	0.00435	0.1429724359249603	0.14220	.	.	0.268919408321	0.06001	T	0.031287	0.21975	T	-0.532159	0.00373	T	-0.691667	0.06293	T	0.00932824704796076	0.00119	T	0.394461	0.09873	T	0.06161033	0.12776	0.05615879	0.09985	0.06161033	0.12776	0.05615879	0.09985	-4.942	0.36204	T	.	.	0.086	0.10787	B	.	.	-0.175655	0.03218	0.536	0.69959841728056538	0.09140	0.00460	0.02218	N	AEFBI	.	.	.	-1.80631561502808	0.00530	0.02281249	-1.9112502777261	0.00465	0.02058856	0.997642504964039	0.35855	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.562822	0.20929	0	0.046323	0.05263	2.89	-5.78	0.02169	-2.426000	0.01104	-4.887000	0.01941	-2.618000	0.00231	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2922:0.2422:0.4656:0.0	6.070	0.19109	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1828.98	33	chr1	1968645	.	G	A	1828.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=966;ExcessHet=0.0000;FS=1.282;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.80;ReadPosRankSum=-4.530e-01;SOR=0.837	GT:AD:DP:GQ:PL	0/0:77,0:77:99:0,120,1800	20	0	1	0
chr1	1968772	1968772	C	T	exonic	CFAP74	.	nonsynonymous SNV	CFAP74:NM_001304360:exon11:c.G1108A:p.E370K,	.	.	406	1093	23	0	0	23	0.010412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.319	B	0.067	B	0.013	N	1.000	D	1.01	L	.	.	-1.099	T	0.065	T	0.204	1.102	9.497	1.72	0.298	1.046	7.273	0.077	.	0.0042	0.00339457	0.0045	0.0006	0.0029	0	0.0014	0.0060	0.0078	0.0058	0.004379	677	154602	rs78791970	0.0050	0.0050	0.0049	0.0051	0.0208	0.0049	0.0048	0.0178	0.0166	0.0009	0.0035	0.0142	2.519e-05	0.0015	0.0208	0.0052	0.0053	0.0055	0.0039	0.0039	0.0044	0.0033	0.0056	0.0036	0.0035	0.0051	0.0050	0.0009	0.0066	0.0035	0.0159	0	0.0009	0.0170	0.0056	0.0066	0.0052	.	.	.	0.1	0.38742	T	0.037	0.20876	B	0.039	0.23607	B	0.013077	0.28961	N	0.272209	0.999422	0.21215	N	.	.	.	.	.	.	.	.	.	0.205	0.22742	-1.0989	0.04227	T	0.065	0.26737	T	9	0.003573656	0.00065	T	.	.	.	.	.	.	.	0.0138822411134	0.00435	0.44038742271592174	0.43955	.	.	0.449175357819	0.31830	T	0.033186	0.22810	T	-0.537508	0.00347	T	-0.540865	0.18211	T	0.00337827463787867	0.00036	T	0.581242	0.21054	T	0.01893156	0.00418	0.04626207	0.06409	0.01893156	0.00417	0.04626207	0.06409	-5.249	0.39435	T	.	.	0.103	0.18580	B	.	.	0.668202	0.10368	7.093	0.76055038576179967	0.11315	0.40386	0.26425	N	AEFDBI	.	.	.	-1.07651452727169	0.07078	0.3277511	-1.0766580397644	0.08160	0.4000629	0.495151486832356	0.20896	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.562822	0.20929	0	0.160397	0.28115	3.67	1.72	0.23498	0.841000	0.27267	1.248000	0.25151	-1.854000	0.00568	0.000000	0.06391	0.001000	0.17328	0.000000	0.00833	0.0:0.7254:0.1717:0.1029	7.273	0.25441	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4061.11	170	chr1	1968772	.	C	T	4061.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.92;DP=2571;ExcessHet=0.1072;FS=0.847;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=2.29;SOR=0.637	GT:AD:DP:GQ:PL	0/0:133,0:133:99:0,120,1800	19	0	2	0
chr1	2030193	2030193	G	A	exonic	GABRD	.	nonsynonymous SNV	GABRD:NM_000815:exon9:c.G1270A:p.A424T,	.	.	.	.	.	.	.	.	.	.	.	1022880	Idiopathic_generalized_epilepsy	MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.54	T	1.0	D	0.99	D	0.000	D	1.000	D	1.33	L	-1.77	D	-0.061	T	0.582	D	0.682	2.297	13.64	3.82	2.145	6.186	15.254	0.621	0.271653736768	.	.	1.842e-05	0	8.758e-05	0	0	1.628e-05	0	0	1.29e-05	2	154602	rs770260377	7.797e-06	1.915e-05	7e-06	8.615e-06	3.769e-05	4.18e-06	3.06e-06	1.001e-05	4.78e-06	0	2.716e-05	0	0	0	0	4.604e-06	3.445e-05	3.769e-05	1.314e-05	1.313e-05	0	2.689e-05	2.411e-05	2.18e-06	8.2e-07	.	.	2.411e-05	0	0	0	0	0	0	1.47e-05	0	0	0.436	0.09374	T	0.28	0.21678	T	1.0	0.90584	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.235	0.30780	L	-1.77	0.83660	D	-0.39	0.13611	N	0.828	0.82358	-0.0610	0.80972	T	0.582	0.84955	D	10	0.79441845	0.78942	D	0.271654	0.89901	D	0.621	0.85301	0.75	0.88071	0.746807876849	0.74452	0.8303007817017545	0.82989	1.79650626074	0.91588	0.819943666458	0.85018	D	0.138871	0.47260	T	0.168353	0.70970	D	0.00405094	0.70598	D	0.816108345985413	0.47485	D	0.944206	0.78893	D	0.13197465	0.30745	0.1482831	0.35057	0.13197465	0.30745	0.1482831	0.35056	-3.712	0.19496	T	.	.	0.412	0.60254	A	.;.;.;.	.;.;.;.	4.600588	0.72864	25.9	0.99215446540077101	0.55716	0.98186	0.80350	D	AEFDBI	0.549762	0.56251	D	0.425907512335916	0.62850	4.508032	0.396956214890564	0.61376	4.336948	0.999999982267493	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	3.82	3.82	0.43153	6.496000	0.73577	11.424000	0.92722	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	15.254	0.73267	934	0.15400	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1079.98	47	chr1	2030193	.	G	A	1079.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.096;DP=852;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=1.66;SOR=0.690	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1224	20	0	1	0
chr1	2303394	2303394	G	A	exonic	SKI	.	nonsynonymous SNV	SKI:NM_003036:exon3:c.G1205A:p.R402Q,	Shprintzen-Goldberg syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	390988	Shprintzen-Goldberg_syndrome|Familial_thoracic_aortic_aneurysm_and_aortic_dissection	MONDO:MONDO:0008426,MedGen:C1321551,OMIM:182212,Orphanet:2462|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.16	T	0.999	D	0.805	P	0.000	D	0.983	D	1.87	L	-3.98	D	0.925	D	0.888	D	0.481	4.908	28.3	3.95	1.928	8.478	15.377	0.677	0.658545485986	.	0.000199681	2.487e-05	0	0	0	0	1.512e-05	0	0.0001	2.59e-05	4	154602	rs557289756	1.576e-05	1.573e-05	1.091e-05	2.065e-05	0.0009	1.049e-05	8.76e-06	0.0003	0.0002	0	0	0	5.039e-05	0	0.0009	5.4e-06	1.657e-05	0.0001	2.627e-05	2.625e-05	5.141e-05	0	0.0004	8.14e-06	5.14e-06	7.315e-05	3.038e-05	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0004	0.047	0.40319	D	0.18	0.29442	T	0.999	0.77913	D	0.805	0.58399	P	0.000001	0.84330	D	0.000000	0.98324	0.39990	D	2.255	0.64187	M	-3.98	0.96277	D	-1.23	0.31170	N	0.692	0.69737	0.925	0.96033	D	0.888	0.96278	D	10	0.70547736	0.72710	D	0.658545	0.97126	D	0.677	0.88109	0.442	0.49811	0.81625183416	0.81452	0.48179075392365	0.48099	0.803511162312	0.66361	0.75793337822	0.75622	T	0.443408	0.78721	T	0.0905473	0.63251	D	0.0738164	0.75166	D	0.902675330638885	0.55569	D	0.912709	0.68911	D	0.12546964	0.29413	0.12544534	0.30226	0.12546964	0.29413	0.12544534	0.30225	-3.685	0.19097	T	.	.	0.179	0.38994	B	.	.	4.034934	0.59692	24.1	0.9992619312334966	0.99103	0.98108	0.79665	D	AEFBCI	0.877798	0.80266	D	0.568856337117591	0.71238	5.620493	0.530895962633333	0.70079	5.452802	0.999999994331632	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.95	3.95	0.44952	8.589000	0.90602	7.342000	0.58253	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.894000	0.43146	0.0:0.0:1.0:0.0	15.377	0.74339	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1237.98	34	chr1	2303394	.	G	A	1237.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.79;DP=804;ExcessHet=0.0000;FS=0.865;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.74;ReadPosRankSum=0.931;SOR=0.569	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1289	20	0	1	0
chr1	2374479	2374479	T	C	exonic	MORN1	.	nonsynonymous SNV	MORN1:NM_001301060:exon7:c.A616G:p.I206V	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.429	B	0.108	B	0.001	N	1.000	D	1.32	L	1.02	T	-1.091	T	0.065	T	0.155	0.987	9.030	2.93	0.342	0.979	6.314	0.014	.	0.0015	0.000798722	0.0057	0.0004	0.0015	0	0.0538	0.0078	0.0120	0.0004	0.0023738	367	154602	rs56199918	0.0027	0.0027	0.0028	0.0026	0.0027	0.0026	0.0026	0.0026	0.0026	0.0002	0.0005	0.0002	0	0.0139	0.0005	0.0027	0.0023	0.0006	0.0022	0.0022	0.0017	0.0028	0.0021	0.0020	0.0020	0.0018	0.0017	0.0002	0	0.0003	0.0012	0.0002	0.0160	0	0.0021	0.0009	0.0015	0.258	0.17643	T	0.193	0.28210	T	0.429	0.35556	B	0.108	0.31289	B	0.000789	0.41772	N	0.101080	0.974514	0.25487	N	1.875	0.49914	L	1.02	0.40749	T	-0.32	0.12283	N	0.284	0.32148	-1.0907	0.05416	T	0.065	0.26913	T	10	0.009079546	0.00205	T	.	.	.	0.014	0.01968	.	.	0.253205268125	0.24938	0.3030198253595968	0.30214	0.029437248235	0.03026	0.418381989002	0.27615	T	0.013265	0.11507	T	-0.517675	0.00454	T	-0.519117	0.20383	T	0.0181331751822309	0.00535	T	0.659134	0.27951	T	.	.	.	.	.	.	.	.	-7.208	0.61030	T	.	.	0.186	0.40246	B	.;.	.;.	1.496617	0.19246	14.16	0.94336355332955035	0.24673	0.59986	0.31067	D	AEFBCI	0.142066	0.26441	N	-0.344536461820671	0.27473	1.507598	-0.246433095763041	0.29894	1.678604	0.996669942189986	0.34909	0.660377	0.49826	0	0.694456	0.67091	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	5.21	2.93	0.33092	0.703000	0.25321	0.021000	0.13590	0.665000	0.62972	1.000000	0.71638	0.965000	0.29475	0.279000	0.23992	0.0:0.1974:0.0:0.8026	6.314	0.20386	958	0.09170	.;.	.	.	.	.	rs56199918	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1640.98	33	chr1	2374479	.	T	C	1640.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.270e-01;DP=853;ExcessHet=0.0000;FS=2.075;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=-5.380e-01;SOR=0.889	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1156	20	0	1	0
chr1	2408617	2408617	C	T	exonic	PEX10	.	startloss	PEX10:NM_001374425:exon3:c.G435A:p.M145I	Peroxisome biogenesis disorder 6A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 6B, Autosomal recessive	.	1	1513	7	1	0	9	0.0029654	.	.	549520	Zellweger_spectrum_disorders|Peroxisome_biogenesis_disorder_6A_(Zellweger)|not_provided|Peroxisome_biogenesis_disorder,_complementation_group_7	MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912|MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870,Orphanet:912|MedGen:C3661900|MedGen:C1864399	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.6	T	0.0	B	0.0	B	0.452	N	0.999	N	-1.67	N	-0.12	T	-0.967	T	0.080	T	0.103	0.079	4.425	0.272	0.410	-0.276	3.744	0.086	.	7.7e-05	0.00399361	0.0029	0.0001	0.0002	0	0	0	0.0025	0.0200	0.0024062	372	154602	rs368273118	0.0011	0.0011	0.0006	0.0017	0.0180	0.0011	0.0011	0.0172	0.0169	0	0.0002	0	0	0	0.0009	1.529e-05	0.0011	0.0180	0.0007	0.0007	0.0003	0.0011	0.0209	0.0006	0.0005	0.0176	0.0164	7.214e-05	0	0	0	0	0	0	0	0	0.0209	0.479	0.08408	T	0.509	0.15355	T	0.0	0.02946	B	0.0	0.01387	B	0.452042	0.12495	N	0.765530	0.998659	0.22008	N	-1.63	0.00401	N	-0.12	0.75215	T	0.83	0.01787	N	0.125	0.13911	-0.9669	0.37834	T	0.080	0.31645	T	10	0.0028239489	0.00089	T	.	.	.	0.086	0.25016	0.449	0.50957	0.307016933798	0.30308	0.23091880644901952	0.23006	0.103562949394	0.11719	0.381825447083	0.22516	T	0.060729	0.31465	T	-0.531489	0.00376	T	-0.521287	0.20164	T	0.00340087016643169	0.00036	T	0.685431	0.65058	T	0.049643766	0.08846	0.040707048	0.04463	0.046933863	0.07938	0.042482372	0.05069	-2.496	0.06139	T	.	.	0.124	0.26232	B	.;.;.;.	.;.;.;.	1.156236	0.15446	11.86	0.68920848594933826	0.08808	0.41627	0.26699	N	AEFDBCI	0.203656	0.33015	N	-1.23859382198017	0.04452	0.2009531	-1.12609457512312	0.07204	0.3495664	0.991540881632239	0.32525	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.636168	0.56350	0	.	.	4.76	0.272	0.14899	-0.671000	0.05351	0.446000	0.18474	0.599000	0.40250	0.026000	0.20160	0.993000	0.31925	0.145000	0.20128	0.3406:0.4547:0.114:0.0907	3.744	0.08069	889	0.27310	Pex, N-terminal;Pex, N-terminal;Pex, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1045.98	35	chr1	2408617	.	C	T	1045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.670e+00;DP=770;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.33;ReadPosRankSum=0.685;SOR=0.732	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,120,1800	20	0	1	0
chr1	2504802	2504814	GGGCCTCCCGGGA	-	exonic	PLCH2	.	frameshift deletion	PLCH2:NM_014638:exon22:c.3840_3852del:p.L1282Hfs*9,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3146.94	41	chr1	2504801	.	TGGGCCTCCCGGGA	T	3146.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=908;ExcessHet=0.0000;FS=1.992;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.84;ReadPosRankSum=-9.580e-01;SOR=0.903	GT:AD:DP:GQ:PL	0/1:85,82:167:99:3161,0,3310	20	0	1	0
chr1	2591992	2591992	G	T	exonic	MMEL1	.	nonsynonymous SNV	MMEL1:NM_033467:exon22:c.C2103A:p.D701E,	.	.	410	1077	34	1	0	36	0.0164384	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.006	B	0.047	B	0.000	D	0.978	N	-1.125	N	-2.27	D	-0.746	T	0.119	T	0.083	-0.671	1.067	-3.73	-0.301	-0.154	0.592	0.202	.	0.0002	0.00479233	0.0039	0.0003	0.0020	0	0.0009	0.0007	0.0068	0.0234	0.0032923	509	154602	rs139941953	0.0020	0.0020	0.0012	0.0027	0.0241	0.0019	0.0019	0.0233	0.0229	0.0002	0.0017	0.0004	5.038e-05	0.0016	0.0087	0.0004	0.0023	0.0241	0.0013	0.0013	0.0008	0.0017	0.0245	0.0011	0.0011	0.0209	0.0195	4.815e-05	0	0.0020	0.0003	0.0002	0.0010	0.0034	0.0004	0.0024	0.0245	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.047	0.24832	B	0.000104	0.50451	D	0.169147	0.978157	0.25267	N	-0.8	0.01622	N	-2.27	0.87433	D	1.2	0.01551	N	0.116	0.13626	-0.7463	0.58128	T	0.119	0.41799	T	10	0.0022487938	0.00033	T	.	.	.	0.202	0.48754	0.318	0.29581	0.15556083564	0.15200	0.336983864726798	0.33611	0.197538282878	0.22128	0.356063842773	0.18811	T	0.251541	0.62180	T	-0.500915	0.00565	T	-0.474053	0.25082	T	0.00519120197706073	0.00056	T	0.641436	0.25361	T	0.02935999	0.02419	0.039899465	0.04190	0.02935999	0.02418	0.039899465	0.04190	-0.089	0.00382	T	.	.	0.265	0.49950	B	.;.	.;.	0.215240	0.05983	2.423	0.81869607158816715	0.13902	0.08265	0.14217	N	AEFDBI	0.128674	0.24654	N	-1.30047499016735	0.03671	0.1643771	-1.22291144834836	0.05543	0.264422	0.997556911042802	0.35751	0.554377	0.28877	0	0.547309	0.14657	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	3.86	-3.73	0.04112	-0.229000	0.09106	-1.143000	0.06203	0.676000	0.76740	0.100000	0.22794	0.000000	0.08366	0.948000	0.49324	0.2739:0.3106:0.2003:0.2152	0.592	0.00682	835	0.38313	Peptidase M13, C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	861.98	34	chr1	2591992	.	G	T	861.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=807;ExcessHet=0.0000;FS=0.780;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.71;ReadPosRankSum=-1.210e-01;SOR=0.800	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr1	2592920	2592924	GTTAC	-	exonic	MMEL1	.	frameshift deletion	MMEL1:NM_033467:exon20:c.1910_1914del:p.S637Ifs*42,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.284e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs759870291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.572e-06	6.562e-06	1.286e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1432.94	38	chr1	2592919	.	AGTTAC	A	1432.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.070e-01;DP=906;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=1.36;SOR=0.680	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr1	2596083	2596083	G	A	exonic	MMEL1	.	nonsynonymous SNV	MMEL1:NM_033467:exon15:c.C1426T:p.R476W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.18	M	-1.01	T	0.573	D	0.687	D	0.605	3.906	19.86	4.31	1.306	5.226	14.449	0.600	0.216175996714	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1004607239	4.789e-06	5.472e-06	6.807e-06	2.75e-06	0.0002	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	2.237e-05	0	0	0	0.0002	4.497e-06	0	0	6.573e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.112824	0.999999	0.58761	D	3.295	0.90403	M	-1.01	0.76168	T	-7.14	0.94073	D	0.616	0.63459	0.573	0.91544	D	0.687	0.89191	D	10	0.9446826	0.93794	D	0.216176	0.87545	D	0.600	0.84183	0.708	0.84418	0.824221523835	0.82255	0.6110595370569311	0.61037	0.714303681493	0.61876	0.42274171114	0.28214	T	0.893224	0.97847	D	0.062004	0.59864	T	-0.0658468	0.65921	T	0.983108341693878	0.74897	D	0.962404	0.85901	D	0.69067246	0.77548	0.54058915	0.73449	0.69067246	0.77550	0.54058915	0.73449	-10.48	0.78695	D	.	.	0.290	0.64141	B	.;.	.;.	4.592140	0.72647	25.9	0.9991676732211624	0.98449	0.97864	0.77703	D	AEFDBI	0.909236	0.86561	D	0.603191985629223	0.73374	5.956064	0.461443652569985	0.65457	4.826004	0.999999889839436	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	5.24	4.31	0.50718	6.465000	0.73453	3.857000	0.40118	0.676000	0.76740	1.000000	0.71638	0.892000	0.27844	0.144000	0.20092	0.0:0.0:0.8519:0.1481	14.449	0.66949	836	0.38045	Peptidase M13, N-terminal domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	680.98	36	chr1	2596083	.	G	A	680.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.054e+00;DP=817;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.01;ReadPosRankSum=1.77;SOR=0.671	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1199	20	0	1	0
chr1	2606283	2606283	T	A	exonic	MMEL1	.	nonsynonymous SNV	MMEL1:NM_033467:exon8:c.A715T:p.N239Y,	.	.	415	1102	4	1	0	6	0.00271493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.949	P	0.516	P	0.000	D	1.000	D	2.015	M	-0.79	T	-0.177	T	0.392	T	0.357	3.361	17.33	4.76	1.766	3.621	13.456	0.399	.	.	0.00199681	0.0021	0	8.67e-05	0	0	0	0.0067	0.0152	0.0017529	271	154602	rs533316401	0.0010	0.0010	0.0006	0.0015	0.0162	0.0010	0.0010	0.0155	0.0152	2.987e-05	4.472e-05	0	2.519e-05	0	0.0007	4.137e-05	0.0010	0.0162	0.0005	0.0006	0.0003	0.0008	0.0162	0.0004	0.0004	0.0133	0.0122	2.406e-05	0	0	0	0	0	0	1.471e-05	0.0009	0.0162	0.02	0.49613	D	0.052	0.47581	T	0.949	0.53761	P	0.516	0.48072	P	0.000045	0.53742	D	0.160044	0.999804	0.81001	D	2.175	0.60977	M	-0.79	0.73739	T	-2.29	0.50992	N	0.697	0.70175	-0.1775	0.78243	T	0.392	0.74575	T	10	0.029409438	0.01068	T	.	.	.	0.399	0.71321	0.575	0.69957	0.856652639049	0.85527	0.7386314533236433	0.73808	0.70065952119	0.61107	0.502461075783	0.39171	T	0.318181	0.68957	T	-0.319883	0.06908	T	-0.219942	0.52743	T	0.0724176210184724	0.08987	T	0.756224	0.37950	T	0.17608139	0.38501	0.1801663	0.40799	0.17608139	0.38501	0.1801663	0.40798	-7.204	0.55510	T	.	.	0.225	0.45665	B	.	.	6.698036	0.95608	35	0.99304733670285694	0.58759	0.88838	0.48962	D	AEFBI	0.598690	0.59199	D	0.30776831473035	0.56545	3.819512	0.268869553611754	0.53730	3.540605	0.971514724104596	0.29294	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.76	4.76	0.60189	5.544000	0.66938	4.822000	0.45127	0.640000	0.52149	1.000000	0.71638	1.000000	0.68203	0.386000	0.26469	0.0:0.0:0.0:1.0	13.456	0.60649	842	0.36989	Peptidase M13, N-terminal domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1246.98	34	chr1	2606283	.	T	A	1246.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.208e+00;DP=833;ExcessHet=0.0000;FS=3.189;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.67;ReadPosRankSum=0.324;SOR=0.851	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1211	20	0	1	0
chr1	2611305	2611305	T	G	exonic	MMEL1	.	nonsynonymous SNV	MMEL1:NM_033467:exon4:c.A268C:p.T90P,	.	.	.	.	.	.	.	.	.	.	.	3457493	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.007	B	0.013	B	0.362	N	0.999	D	1.665	L	-1.57	D	-0.322	T	0.415	T	0.652	1.947	12.47	2.66	1.717	1.595	8.721	0.462	0.512412969835	.	.	5.767e-05	0	0	0	0	0	0	0.0004	2.59e-05	4	154602	rs770298035	3.027e-05	3.078e-05	1.535e-05	4.546e-05	0.0005	2.281e-05	2.027e-05	0.0004	0.0003	3.173e-05	0	0	0	0	0	0	1.708e-05	0.0005	1.316e-05	1.314e-05	0	2.695e-05	0.0004	2.19e-06	8.2e-07	7.279e-05	3.025e-05	0	0	0	0	0	0	0	0	0	0.0004	0.102	0.53900	T	0.211	0.26631	T	0.007	0.14184	B	0.013	0.16460	B	0.362399	0.13650	N	0.707040	0.999489	0.47237	D	1.47	0.36993	L	-1.57	0.81900	D	-2.17	0.49018	N	0.449	0.48689	-0.3222	0.74360	T	0.415	0.76218	T	10	0.3808394	0.54181	T	0.512413	0.95322	D	0.462	0.75889	0.392	0.41606	0.68083381961	0.67812	0.7646848045696039	0.76417	0.706614473469	0.61453	0.487788408995	0.37133	T	0.534415	0.83945	D	-0.0743089	0.40637	T	-0.0441921	0.67417	D	0.0981658282019208	0.12154	T	0.659534	0.36032	T	0.4142778	0.61708	0.5274414	0.72697	0.4142778	0.61709	0.5274414	0.72697	-11.516	0.82414	D	.	.	0.092	0.33687	B	.;.	.;.	3.284015	0.45011	22.0	0.97548436440061859	0.34555	0.76328	0.37426	D	ALL	0.481519	0.52278	N	-0.354627254600918	0.27103	1.48433	-0.300205540819873	0.28093	1.563627	0.976444975880345	0.29725	0.443343	0.08805	1	0.578056	0.33634	0	0.666236	0.60216	0	0.604944	0.38103	0	.	.	3.77	2.66	0.30672	1.769000	0.38152	1.636000	0.27766	0.640000	0.52149	1.000000	0.71638	1.000000	0.68203	0.093000	0.17941	0.0:0.0983:0.0:0.9017	8.721	0.33600	842	0.36989	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	749.98	38	chr1	2611305	.	T	G	749.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.583;DP=843;ExcessHet=0.0000;FS=1.715;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.98;ReadPosRankSum=1.89;SOR=0.842	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1202	20	0	1	0
chr1	2641664	2641664	G	A	exonic	TTC34	.	nonsynonymous SNV	TTC34:NM_001242672:exon8:c.C2944T:p.R982C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	.	.	.	.	0.698	U	0.962	N	-0.55	N	0.99	T	-1.036	T	0.036	T	0.137	0.045	4.249	1.38	0.058	0.529	3.227	0.020	0.00995942131	.	0.00139776	0.0003	0	0	0	0	0	0	0.0004	8.41e-05	13	154602	rs545565598	0.0001	0.0001	0.0001	0.0001	0.0018	0.0001	0.0001	0.0014	0.0013	9.5e-05	0	0	0.0018	0	0.0004	4.265e-05	0.0002	0.0007	0.0002	0.0002	0.0001	0.0003	0.0050	0.0002	0.0001	0.0035	0.0030	0	0	0	0	0.0050	0	0	2.941e-05	0	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	0.698236	0.10116	U	0.853808	0.971307	0.26099	N	-0.345	0.03330	N	.	.	.	.	.	.	.	.	-1.0362	0.18481	T	0.036	0.15726	T	8	0.004797101	0.00101	T	0.009959	0.25923	T	0.020	0.03691	0.542	0.65446	0.366659145958	0.36277	0.2367700363662724	0.23592	.	.	0.443857967854	0.31104	T	0.008537	0.07834	T	-0.62341	0.00105	T	-0.663977	0.08001	T	0.017942775474669	0.00520	T	0.248475	0.03691	T	0.048379026	0.08423	0.04485265	0.05903	0.048379026	0.08422	0.04485265	0.05903	-3.662	0.18759	T	.	.	0.072	0.05145	B	.;.	.;.	1.321670	0.17257	13.06	0.85989730381820351	0.16241	0.03056	0.07957	N	AEFDBHCI	0.048031	0.08154	N	-0.997261971277257	0.08662	0.4069965	-1.03376588385426	0.09048	0.4480441	0.999997108725669	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.505578	0.09266	0	0.604944	0.38103	0	.	.	3.85	1.38	0.21262	-0.058000	0.11707	2.457000	0.32838	-0.059000	0.16651	0.002000	0.15269	1.000000	0.68203	0.032000	0.13371	0.671:0.0:0.1186:0.2105	3.227	0.06336	.	.	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	759.98	33	chr1	2641664	.	G	A	759.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=745;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.52;ReadPosRankSum=-2.200e-02;SOR=0.616	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,106,1425	20	0	1	0
chr1	3022377	3022377	C	T	exonic	ACTRT2	.	nonsynonymous SNV	ACTRT2:NM_080431:exon1:c.C691T:p.L231F,	.	.	424	1085	13	0	0	13	0.00595511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.013	B	0.046	B	0.218	N	0.953	D	1.425	L	3.01	T	-1.078	T	0.026	T	0.129	1.694	11.62	2.92	0.429	1.947	6.392	0.036	0.0103365661884	.	0.000199681	0.0005	0	8.673e-05	0	0	0.0001	0.0011	0.0031	0.000414	64	154602	rs542542083	0.0002	0.0002	0.0002	0.0003	0.0035	0.0002	0.0002	0.0027	0.0026	0	0	7.652e-05	0	0	0.0035	4.946e-05	0.0004	0.0030	0.0001	0.0001	8.994e-05	0.0001	0.0021	7.573e-05	6.279e-05	0.0011	0.0009	0	0	6.533e-05	0.0006	0	0	0.0102	2.94e-05	0	0.0021	0.004	0.65419	D	0.243	0.24193	T	0.013	0.16609	B	0.046	0.24676	B	0.218328	0.16198	N	0.509086	0.952701	0.37796	D	1.27	0.32069	L	3.01	0.09075	T	-2.26	0.50502	N	0.071	0.04426	-1.0778	0.07781	T	0.026	0.11264	T	10	0.010127097	0.00227	T	0.010337	0.26763	T	0.036	0.09122	.	.	0.137902524267	0.13322	0.7536963177878827	0.75316	0.156088582231	0.17621	0.371997237206	0.21118	T	0.521969	0.83300	D	-0.564991	0.00237	T	-0.588025	0.13837	T	0.0921063023921383	0.11464	T	0.460054	0.13307	T	0.4115561	0.61524	0.31427318	0.57420	0.4115561	0.61525	0.31427318	0.57419	-6.166	0.47647	T	.	.	0.089	0.12084	B	.	.	2.727960	0.35700	19.97	0.99783380090816309	0.86955	0.80455	0.40088	D	AEFBI	0.267433	0.38414	N	-0.550771510963405	0.20459	1.078685	-0.481371761394678	0.22667	1.232318	4.7796867012802E-5	0.03989	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.85	2.92	0.32998	1.927000	0.39724	0.409000	0.18089	-0.182000	0.10109	1.000000	0.71638	0.291000	0.24165	0.066000	0.16387	0.4351:0.4775:0.0:0.0874	6.392	0.20794	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1352.98	35	chr1	3022377	.	C	T	1352.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.000e-03;DP=891;ExcessHet=0.0000;FS=1.464;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.91;ReadPosRankSum=0.475;SOR=0.878	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1071	20	0	1	0
chr1	3385206	3385206	G	A	exonic	PRDM16	.	nonsynonymous SNV	PRDM16:NM_022114:exon4:c.G493A:p.A165T	Cardiomyopathy, dilated, 1LL, Autosomal dominant;Left ventricular noncompaction 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2222896	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.85	T	0.034	B	0.053	B	0.934	U	1.000	N	0.405	N	-2.0	D	-0.839	T	0.295	T	0.046	1.269	10.14	-0.919	-0.000	1.188	4.207	0.150	0.0409238329051	.	0.000199681	4.997e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs561382082	2.463e-05	2.463e-05	1.634e-05	3.301e-05	0.0003	1.804e-05	1.601e-05	0.0002	0.0002	0	0	0	0	0	0.0002	3.597e-06	3.312e-05	0.0003	1.313e-05	1.312e-05	1.285e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0	0	0	0	0	0.0002	0.736	0.03741	T	1.0	0.21343	T	0.034	0.20480	B	0.053	0.25678	B	0.934466	0.07555	U	1.046120	1	0.19363	N	0.665	0.16292	N	-2.0	0.85393	D	0.47	0.03639	N	0.071	0.04668	-0.8387	0.52733	T	0.295	0.66688	T	10	0.054698765	0.05865	T	0.040924	0.59647	D	0.150	0.39571	0.615	0.74884	0.452830296012	0.44903	0.36021886360156674	0.35935	0.343996555423	0.36322	0.343262821436	0.16925	T	0.005557	0.31292	T	-0.352393	0.04578	T	-0.44364	0.28403	T	0.0434949312856537	0.04328	T	0.543646	0.18539	T	0.035080396	0.04062	0.057101283	0.10321	0.035080396	0.04062	0.057101283	0.10320	-4.164	0.26228	T	.	.	0.069	0.06205	B	.;.;.;.;.	.;.;.;.;.	1.179123	0.15696	12.04	0.90379807658624967	0.19642	0.42835	0.26965	N	AEFBI	0.104634	0.20930	N	-0.951830879454722	0.09652	0.4577258	-0.908494510681379	0.11894	0.6087018	0.0156756361442306	0.12742	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.31	-0.919	0.09946	0.741000	0.25870	0.810000	0.21743	-0.106000	0.15538	0.612000	0.27847	0.672000	0.26072	0.005000	0.06747	0.2188:0.0:0.3495:0.4317	4.207	0.09949	958	0.09170	SET domain|SET domain;.;SET domain|SET domain;SET domain|SET domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1554.98	35	chr1	3385206	.	G	A	1554.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.365;DP=917;ExcessHet=0.0000;FS=0.625;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=-4.480e-01;SOR=0.595	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr1	3430950	3430950	G	C	exonic	PRDM16	.	nonsynonymous SNV	PRDM16:NM_022114:exon15:c.G3363C:p.E1121D	Cardiomyopathy, dilated, 1LL, Autosomal dominant;Left ventricular noncompaction 8, Autosomal dominant	.	395	1124	2	1	0	4	0.0017762	.	.	823922	not_provided|Left_ventricular_noncompaction_8	MedGen:C3661900|MONDO:MONDO:0014152,MedGen:C3809288,OMIM:615373,Orphanet:154,Orphanet:54260	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.999	D	0.993	D	0.020	N	0.997	D	2.015	M	3.27	T	-1.146	T	0.048	T	0.273	1.215	9.931	1.76	0.862	1.552	6.304	0.066	0.025334441937	.	.	9.699e-06	0	0	0	0	1.737e-05	0	0	6.5e-06	1	154602	rs749724757	2.942e-05	2.942e-05	2.996e-05	2.889e-05	0.0016	2.217e-05	1.97e-05	0.0008	0.0006	0	0	0	0	0	0.0016	1.529e-05	0.0001	0.0001	2.628e-05	2.627e-05	3.853e-05	1.345e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.099	0.30800	T	0.267	0.23914	T	0.999	0.77913	D	0.993	0.81110	D	0.020315	0.27067	N	0.240772	0.997061	0.43605	D	2.425	0.70256	M	3.23	0.07125	T	-1.1	0.28497	N	0.435	0.49237	-1.1463	0.01139	T	0.048	0.20632	T	10	0.11664358	0.22008	T	0.025334	0.48313	D	0.066	0.19193	0.102	0.01589	0.616309752723	0.61320	0.06515076404591119	0.06454	0.0670724899157	0.07489	0.402989834547	0.25486	T	0.006058	0.35315	T	-0.340526	0.05351	T	-0.523319	0.19959	T	0.29468834400177	0.24784	T	0.626337	0.24237	T	0.09266372	0.21743	0.08742024	0.20319	0.09266372	0.21743	0.08742024	0.20319	-4.025	0.25496	T	.	.	0.075	0.10014	B	.;.;.;.;.	.;.;.;.;.	2.278534	0.29133	18.02	0.98853040340301201	0.47322	0.85204	0.44316	D	AEFBI	0.369095	0.45596	N	0.149826670619507	0.48805	3.088194	0.0214763056487522	0.40715	2.434211	0.0227145104524908	0.13452	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.14	1.76	0.23776	1.526000	0.35570	-0.034000	0.12756	0.676000	0.76740	0.999000	0.42656	0.242000	0.23858	0.025000	0.12405	0.4769:0.0:0.5231:0.0	6.304	0.20335	958	0.09170	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2029.98	34	chr1	3430950	.	G	C	2029.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.178e+00;DP=856;ExcessHet=0.0000;FS=7.039;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=-3.780e-01;SOR=1.021	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1084	20	0	1	0
chr1	3431047	3431047	G	A	exonic	PRDM16	.	nonsynonymous SNV	PRDM16:NM_022114:exon15:c.G3460A:p.E1154K	Cardiomyopathy, dilated, 1LL, Autosomal dominant;Left ventricular noncompaction 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1002751	Left_ventricular_noncompaction_8|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0014152,MedGen:C3809288,OMIM:615373,Orphanet:154,Orphanet:54260|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.808	P	0.003	N	1.000	D	2.215	M	3.37	T	-1.116	T	0.048	T	0.363	3.640	18.51	4.1	2.023	7.480	16.761	0.134	0.0187658358923	.	.	.	.	.	.	.	.	.	.	.	.	.	rs999685090	4.987e-06	5.472e-06	7.036e-06	2.886e-06	2.765e-05	2.07e-06	1.33e-06	1.99e-06	1.31e-06	0	0	0	2.765e-05	0	0	5.545e-06	0	0	1.314e-05	1.313e-05	0	2.69e-05	4.826e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.024	0.57104	D	0.993	0.65571	D	0.689	0.53736	P	0.002967	0.35639	N	0.116004	0.999967	0.52935	D	2.985	0.85602	M	3.35	0.06214	T	-1.21	0.39692	N	0.593	0.61764	-1.1163	0.02580	T	0.048	0.20355	T	10	0.3271665	0.50004	T	0.018766	0.40941	T	0.134	0.36365	0.183	0.09131	0.420073118136	0.41620	0.06339280887046313	0.06278	0.175024273015	0.19701	0.535068869591	0.43749	T	0.018577	0.62213	T	-0.0924712	0.37669	T	-0.370605	0.36818	T	0.817221283912659	0.47566	D	0.949705	0.80662	D	0.17314188	0.38045	0.20382383	0.44477	0.17314188	0.38045	0.20382383	0.44476	-5.36	0.41502	T	.	.	0.136	0.33110	B	.;.;.;.;.	.;.;.;.;.	3.863554	0.56045	23.7	0.9987458538335614	0.95160	0.89932	0.50726	D	AEFDBCI	0.934267	0.92739	D	0.452469217467346	0.64341	4.686658	0.402195837284279	0.61703	4.374033	0.99992035942804	0.46280	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.1	4.1	0.47196	7.596000	0.81977	9.650000	0.81169	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.050000	0.15192	0.0:0.0:1.0:0.0	16.761	0.85372	958	0.09170	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1000.98	34	chr1	3431047	.	G	A	1000.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.810e-01;DP=778;ExcessHet=0.0000;FS=0.912;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.53;ReadPosRankSum=-1.134e+00;SOR=0.823	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1084	20	0	1	0
chr1	3494421	3494421	G	A	exonic	MEGF6	.	nonsynonymous SNV	MEGF6:NM_001409:exon32:c.C4079T:p.T1360M,	.	.	421	1099	2	0	0	2	0.000909091	.	.	2340857	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.992	D	0.024	U	1.000	N	3.095	M	1.39	T	-0.762	T	0.252	T	0.332	1.235	10.01	2.65	0.686	4.010	12.456	0.115	0.0464234641605	0.0003	0.000399361	0.0012	0.0020	0	0	0	0.0010	0.0058	0.0014	0.0002781	43	154602	rs369605349	0.0003	0.0003	0.0003	0.0004	0.0009	0.0003	0.0003	0.0007	0.0006	0.0006	0.0002	0	2.793e-05	2.483e-05	0.0009	0.0003	0.0005	0.0008	0.0004	0.0004	0.0003	0.0004	0.0006	0.0003	0.0003	0.0003	0.0003	0.0005	0	0.0003	0	0	0	0	0.0004	0.0005	0.0006	0.043	0.59928	D	0.009	0.66756	D	1.0	0.90584	D	0.954	0.80445	D	0.023715	0.26392	U	0.356855	1	0.08975	N	3.495	0.92709	M	1.39	0.33842	T	-5.37	0.84882	D	0.495	0.52829	-0.7620	0.57296	T	0.252	0.62142	T	10	0.09761405	0.17592	T	0.046423	0.62452	D	0.115	0.32236	.	.	0.37550373646	0.37164	0.33723940004229913	0.33636	0.530034928815	0.50556	0.481380909681	0.36246	T	0.08297	0.36949	T	-0.371182	0.03534	T	-0.362301	0.37785	T	0.113025641101455	0.13734	T	0.823718	0.48487	T	0.17333926	0.38076	0.16201071	0.37655	0.17333926	0.38076	0.16201071	0.37654	-6.505	0.52380	T	.	.	0.155	0.34205	B	.;.	.;.	3.309566	0.45468	22.1	0.99695119602782367	0.80248	0.78706	0.38872	D	AEFBI	0.287778	0.39984	N	0.174880854504501	0.49995	3.193935	-0.0693837955541418	0.36662	2.136531	0.998807558846388	0.37711	0.634777	0.41761	0	0.588066	0.40923	0	0.723109	0.80598	0	0.645665	0.59343	0	.	.	3.58	2.65	0.30588	3.640000	0.54086	3.772000	0.39758	0.676000	0.76740	0.809000	0.29839	0.730000	0.26410	0.008000	0.08271	0.0:0.3226:0.6774:0.0	12.456	0.55043	982	0.03397	.;Laminin EGF domain|EGF-like domain|Laminin EGF domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1107.98	38	chr1	3494421	.	G	A	1107.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.890;DP=768;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.78;ReadPosRankSum=-1.804e+00;SOR=0.634	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,995	20	0	1	0
chr1	3514604	3514604	G	A	exonic	MEGF6	.	nonsynonymous SNV	MEGF6:NM_001409:exon7:c.C799T:p.R267C,	.	.	417	1091	14	0	0	14	0.00637523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.997	D	0.634	P	0.024	N	0.831	D	2.85	M	-2.3	D	0.703	D	0.701	D	0.398	2.744	15.14	4.47	2.299	4.906	12.075	0.487	.	0.0010	0.00239617	0.0053	0.0003	0.0017	0	0	0.0026	0.0068	0.0173	0.002044	316	154602	rs199566066	0.0013	0.0013	0.0009	0.0018	0.0142	0.0013	0.0012	0.0135	0.0132	3.038e-05	0.0005	0.0116	0	4.289e-05	0.0053	0.0002	0.0021	0.0142	0.0011	0.0011	0.0009	0.0014	0.0161	0.0010	0.0009	0.0133	0.0122	4.81e-05	0.0088	0.0002	0.0124	0	9.411e-05	0.0068	0.0005	0.0014	0.0161	0.013	0.54683	D	0.083	0.48080	T	0.949	0.70673	P	0.59	0.51870	P	0.024387	0.26271	N	0.414587	0.83058	0.34912	D	3.29	0.90338	M	-2.3	0.87671	D	-4.08	0.74742	D	0.418	0.45803	0.703	0.93211	D	0.701	0.89716	D	10	0.01910013	0.00422	T	.	.	.	0.487	0.77528	.	.	0.937697961788	0.93705	0.5896142355920483	0.58891	0.359294339257	0.37621	0.262986660004	0.05250	T	0.120653	0.44305	T	-0.213507	0.18887	T	-0.0677885	0.65783	T	0.138532333395878	0.16148	T	0.919808	0.70989	D	0.15104125	0.34356	0.11419028	0.27564	0.15104125	0.34356	0.11419028	0.27563	-10.361	0.76045	D	.	.	0.215	0.48572	B	.;.	.;.	4.327247	0.66282	24.9	0.9990352288288169	0.97502	0.92647	0.56205	D	AEFDBI	0.682224	0.64531	D	0.457215791684406	0.64613	4.719908	0.366072371825427	0.59483	4.126401	0.999909727444102	0.45458	0.706298	0.61202	0	0.547309	0.14657	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.47	4.47	0.53770	6.289000	0.72700	5.525000	0.48832	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.043000	0.14563	0.0:0.0:0.8278:0.1722	12.075	0.52934	982	0.03397	.;EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	633.98	38	chr1	3514604	.	G	A	633.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.219e+00;DP=756;ExcessHet=0.0000;FS=8.463;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.49;ReadPosRankSum=1.88;SOR=0.966	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr1	3595400	3595400	C	G	exonic	MEGF6	.	nonsynonymous SNV	MEGF6:NM_001409:exon3:c.G314C:p.R105P,	.	.	.	.	.	.	.	.	.	.	.	2222867	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.23	T	0.811	P	0.296	B	0.001	U	1.000	D	1.245	L	-1.91	D	-0.538	T	0.359	T	0.523	1.643	11.45	1.83	0.792	1.946	3.770	0.504	0.217590128273	.	.	7.755e-05	0	0	0	0	0	0	0.0005	5.82e-05	9	154602	rs570659251	3.355e-05	3.352e-05	2.453e-05	4.267e-05	0.0005	2.568e-05	2.314e-05	0.0004	0.0004	0	0	0	0	0	0.0002	8.993e-07	3.313e-05	0.0005	1.314e-05	1.312e-05	0	2.687e-05	0.0004	2.18e-06	8.2e-07	7.299e-05	3.032e-05	0	0	0	0	0	0	0	0	0	0.0004	0.079	0.33753	T	0.012	0.63918	D	0.811	0.45403	P	0.296	0.40883	B	0.001065	0.40389	U	0.164638	0.938805	0.37238	D	1.87	0.49600	L	-1.91	0.84701	D	-2.15	0.48687	N	0.657	0.66700	-0.5380	0.67239	T	0.359	0.72100	T	10	0.6333345	0.68641	D	0.21759	0.87616	D	0.504	0.78600	.	.	0.863069828929	0.86174	0.7958389332097392	0.79536	0.431838473418	0.43370	0.316354781389	0.12868	T	0.008467	0.07774	T	-0.195849	0.21403	T	-0.169669	0.57473	T	0.143979895853523	0.16613	T	0.70183	0.31167	T	0.38456506	0.59644	0.28506035	0.54507	0.38456506	0.59645	0.28506035	0.54506	-11.677	0.83242	D	.	.	0.441	0.61770	A	.	.	2.566236	0.33247	19.28	0.98652173266084398	0.44206	0.77385	0.38042	D	AEFBI	0.704323	0.66007	D	-0.214141641732956	0.32553	1.837075	-0.264019787031261	0.29293	1.639974	0.0527083941737812	0.14915	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.92	1.83	0.24279	0.712000	0.25450	-0.049000	0.12570	0.547000	0.25779	0.980000	0.35271	0.028000	0.21151	0.196000	0.21779	0.0:0.4727:0.0:0.5273	3.770	0.08160	976	0.04745	EMI domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2000.98	34	chr1	3595400	.	C	G	2000.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.103;DP=893;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=1.98;SOR=0.671	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr1	3752488	3752488	G	A	exonic	CCDC27	.	nonsynonymous SNV	CCDC27:NM_152492:exon1:c.G7A:p.E3K,	.	.	430	1083	9	0	0	9	0.00413793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.009	B	0.006	B	.	.	1.000	N	0	N	2.06	T	-0.982	T	0.022	T	0.075	0.570	7.080	0.644	0.133	-0.846	4.182	0.002	.	7.7e-05	0.00938498	0.0048	9.684e-05	0.0004	0	0	6.035e-05	0.0022	0.0343	0.0041526	642	154602	rs371944543	0.0021	0.0021	0.0012	0.0030	0.0317	0.0020	0.0020	0.0308	0.0303	0.0007	0.0003	0	0	0	0.0033	0.0001	0.0024	0.0317	0.0013	0.0013	0.0007	0.0019	0.0377	0.0011	0.0011	0.0332	0.0315	9.622e-05	0	6.535e-05	0	0	0	0	0.0001	0	0.0377	0.212	0.19500	T	0.364	0.16766	T	0.009	0.15093	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	-0.69	0.01958	N	2.06	0.20523	T	-0.24	0.10833	N	0.081	0.05670	-0.9817	0.34608	T	0.022	0.09375	T	9	0.00263986	0.00041	T	.	.	.	0.002	0.00045	.	.	0.110078149338	0.10416	0.13829829894949316	0.13753	0.142195288803	0.16031	0.269597738981	0.06089	T	0.004218	0.03630	T	-0.726822	0.00025	T	-0.793121	0.02080	T	0.00872084434313537	0.00107	T	0.465653	0.13651	T	0.027341487	0.01911	0.041710958	0.04802	0.027341487	0.01911	0.041710958	0.04802	-2.225	0.04163	T	.	.	0.075	0.05535	B	.	.	-0.783405	0.01140	0.053	0.66835579878372475	0.08175	0.00521	0.02426	N	AEFBI	0.024581	0.01544	N	-1.3211968370913	0.03433	0.153348	-1.34970294616399	0.03809	0.1784458	0.742276525276037	0.23231	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.78	0.644	0.16948	-0.885000	0.04269	-1.159000	0.06158	-1.540000	0.00981	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4838:0.0:0.5162:0.0	4.182	0.09841	792	0.45996	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2089.98	37	chr1	3752488	.	G	A	2089.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.188e+00;DP=920;ExcessHet=0.0000;FS=2.675;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.08;ReadPosRankSum=-7.000e-02;SOR=0.490	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr1	3766595	3766595	A	C	exonic	CCDC27	.	nonsynonymous SNV	CCDC27:NM_152492:exon9:c.A1513C:p.N505H,	.	.	427	1018	74	3	0	80	0.0378072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.999	D	0.994	D	0.000	D	0.933	D	1.1	L	1.96	T	-1.062	T	0.063	T	0.347	2.796	15.31	4.99	1.858	4.717	11.053	0.102	.	0.0038	0.00958466	0.0090	0.0002	0.0042	0.0002	0.0045	0.0057	0.0078	0.0377	0.0078718	1217	154602	rs144089943	0.0051	0.0052	0.0041	0.0062	0.0428	0.0051	0.0050	0.0384	0.0367	0.0009	0.0042	0.0287	7.558e-05	0.0038	0.0428	0.0023	0.0079	0.0350	0.0039	0.0039	0.0033	0.0046	0.0301	0.0036	0.0035	0.0261	0.0246	0.0006	0.0088	0.0043	0.0305	0	0.0014	0.0136	0.0031	0.0080	0.0301	0.004	0.65419	D	0.023	0.57104	D	0.999	0.77913	D	0.994	0.82059	D	0.000006	0.62929	D	0.000000	0.933269	0.37049	D	2.57	0.75187	M	1.96	0.22270	T	-3.38	0.66780	D	0.776	0.77319	-1.0617	0.11336	T	0.063	0.26136	T	10	0.0042679906	0.00085	T	.	.	.	0.102	0.29158	.	.	0.31291088546	0.30898	0.31539968237935273	0.31452	0.442136844735	0.44188	0.519552886486	0.41564	T	0.231695	0.59808	T	-0.446022	0.01192	T	-0.386996	0.34904	T	0.0360307911043205	0.02986	T	0.762924	0.38892	T	0.33044806	0.55508	0.28672528	0.54682	0.33044806	0.55508	0.28672528	0.54681	-11.7	0.83360	D	.	.	0.350	0.56547	A	.	.	4.463341	0.69484	25.4	0.99513791993822065	0.68799	0.90596	0.51903	D	AEFDGBI	0.549339	0.56226	D	0.427328015664054	0.62929	4.517303	0.406036618866412	0.61939	4.401428	0.99774680620248	0.35977	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.99	4.99	0.65942	5.094000	0.64357	10.923000	0.84246	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	1.0:0.0:0.0:0.0	11.053	0.47119	808	0.43318	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1130.98	33	chr1	3766595	.	A	C	1130.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.031;DP=822;ExcessHet=0.0000;FS=5.926;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.83;ReadPosRankSum=-8.420e-01;SOR=0.349	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1308	20	0	1	0
chr1	3836493	3836493	A	C	splicing	CEP104	NM_014704:exon10:c.1317+2T>G	.	.	Joubert syndrome 25, Autosomal recessive	.	.	.	.	.	.	.	.	1.0000	0.96	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.069	12.87	5.68	2.154	8.733	15.110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.735e-05	6.102e-05	3.846e-05	3.617e-05	0.0004	2.688e-05	2.371e-05	0.0002	0.0002	7.327e-05	7.78e-05	0.0003	0	0	0	1.969e-05	5.547e-05	0.0004	5.197e-05	0.0006	0.0001	0	0.0002	0	0	.	.	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.591722	0.72633	25.9	0.99213772171432246	0.55685	0.99525	0.97065	D	AEFDBI	.	.	.	1.04252772716544	0.96910	15.31459	0.857870838013166	0.93466	12.06219	0.999999134379761	0.74766	0.163922	0.03765	0	0.156668	0.03792	0	0.060301	0.00762	0	0.117559	0.03655	0	0.948117	0.61440	5.68	5.68	0.88021	8.725000	0.91200	10.879000	0.84044	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.393000	0.26625	1.0:0.0:0.0:0.0	15.110	0.72020	982	0.03397	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2308	383.65	28	chr1	3836493	.	A	C	383.65	.	AC=6;AF=0.231;AN=26;BaseQRankSum=-2.212e+00;DP=963;ExcessHet=1.7912;FS=18.016;InbreedingCoeff=-0.3299;MLEAC=8;MLEAF=0.308;MQ=60.00;MQRankSum=0.00;QD=1.86;ReadPosRankSum=1.90;SOR=2.259	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,10:41:43:.:.:43,0,722	7	0	6	8
chr1	4712519	4712521	GCC	-	exonic	AJAP1	.	nonframeshift deletion	AJAP1:NM_001042478:exon2:c.649_651del:p.A218del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245696035	2.397e-05	2.599e-05	2.452e-05	2.34e-05	0.0009	1.74e-05	1.54e-05	0.0006	0.0006	0	0	0	0.0009	0	0	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1676.94	130	chr1	4712518	.	GGCC	G	1676.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.833e+00;DP=1129;ExcessHet=0.0000;FS=3.306;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=-3.980e-01;SOR=0.927	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,100,1413	20	0	1	0
chr1	5905761	5905761	C	T	exonic	NPHP4	.	nonsynonymous SNV	NPHP4:NM_001291594:exon10:c.G98A:p.G33D	Nephronophthisis 4, Autosomal recessive;Senior-Loken syndrome 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	824278	Nephronophthisis|Nephronophthisis_4|Senior-Loken_syndrome_4	Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MONDO:MONDO:0011752,MedGen:C1847013,OMIM:606966,Orphanet:655|MONDO:MONDO:0011756,MedGen:C1846979,OMIM:606996,Orphanet:3156	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.53	T	0.279	B	0.085	B	0.595	N	1.000	N	0	N	-2.13	D	-0.734	T	0.388	T	0.08	0.076	4.409	5.42	2.529	1.516	15.386	0.261	0.0693065804254	8.2e-05	.	0.0002	0	0.0001	0	0	0.0002	0	0.0008	0.0001488	23	154602	rs200800785	8.297e-05	8.551e-05	5.046e-05	0.0001	0.0007	7.085e-05	6.634e-05	0.0006	0.0005	0	0	0	0	0	0	4.683e-05	8.296e-05	0.0007	6.572e-05	6.567e-05	3.855e-05	9.416e-05	0.0004	3.517e-05	2.617e-05	7.299e-05	4.24e-05	0	0	0	0	0	0	0	0.0001	0	0.0004	0.565	0.06282	T	0.679	0.36101	T	0.279	0.32056	B	0.085	0.29395	B	0.595442	0.11009	N	0.829724	1	0.08975	N	1.61	0.41143	L	-2.13	0.86349	D	-0.89	0.24026	N	0.192	0.26957	-0.7342	0.58751	T	0.388	0.74312	T	10	0.04820192	0.04239	T	0.069307	0.70692	D	0.261	0.57352	.	.	0.879606597277	0.87843	0.35388020791948505	0.35302	0.317553365187	0.33995	0.290909945965	0.09055	T	0.136667	0.46916	T	-0.400027	0.02314	T	-0.412142	0.31978	T	0.0658960681769665	0.08062	T	0.70183	0.32735	T	0.105881594	0.25035	0.13997038	0.33379	0.105881594	0.25034	0.13997038	0.33378	-3.407	0.15150	T	0.5657153434015589	0.63319	0.154	0.34250	B	.;.	.;.	1.430407	0.18485	13.76	0.72758486422953705	0.10085	0.30131	0.24003	N	AEFBI	0.097608	0.19684	N	-0.657481748963666	0.17243	0.8856061	-0.591924011410825	0.19702	1.058288	0.999211030317522	0.38775	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.42	5.42	0.78666	1.170000	0.31493	3.789000	0.39822	0.599000	0.40250	0.005000	0.17040	0.532000	0.25368	0.002000	0.04165	0.0:0.8606:0.1394:0.0	15.386	0.74422	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1845.98	38	chr1	5905761	.	C	T	1845.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=859;ExcessHet=0.0000;FS=12.672;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=0.239;SOR=1.593	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1201	20	0	1	0
chr1	5909165	5909165	G	C	exonic	NPHP4	.	nonsynonymous SNV	NPHP4:NM_015102:exon12:c.C1490G:p.P497R,	Nephronophthisis 4, Autosomal recessive;Senior-Loken syndrome 4, Autosomal recessive	.	2	1505	15	0	0	15	0.00495868	.	.	212108	not_specified|Nephronophthisis|Nephronophthisis_4|Senior-Loken_syndrome_4	MedGen:CN169374|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MONDO:MONDO:0011752,MedGen:C1847013,OMIM:606966,Orphanet:655|MONDO:MONDO:0011756,MedGen:C1846979,OMIM:606996,Orphanet:3156	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.24	T	0.999	D	0.976	D	0.003	N	0.963	N	1.87	L	-2.23	D	-0.083	T	0.690	D	0.315	1.949	12.47	3.45	2.226	4.211	10.696	0.261	.	.	0.00958466	0.0111	0	0.0009	0	0	0.0002	0.0082	0.0568	0.0049029	758	154602	rs375051705	0.0026	0.0027	0.0015	0.0037	0.0429	0.0025	0.0025	0.0418	0.0413	0.0001	6.986e-05	0.0003	5.094e-05	3.811e-05	0.0019	3.345e-05	0.0024	0.0429	0.0014	0.0014	0.0007	0.0021	0.0420	0.0012	0.0012	0.0373	0.0355	0.0001	0	6.533e-05	0.0003	0	0	0	1.47e-05	0.0005	0.0420	0.016	0.51853	D	0.182	0.42261	T	0.999	0.77913	D	0.976	0.73562	D	0.002940	0.35704	N	0.176841	0.963216	0.26034	N	2.655	0.77738	M	-2.23	0.87116	D	-1.85	0.43334	N	0.424	0.46368	-0.0828	0.80492	T	0.690	0.89312	D	10	0.0061025918	0.00137	T	.	.	.	0.261	0.57352	0.216	0.13643	0.931613473457	0.93091	0.39859282887702197	0.39774	0.390474098581	0.40258	0.653904557228	0.60540	T	0.184754	0.53752	T	-0.290326	0.09604	T	-0.158393	0.58496	T	0.0377434078750104	0.03287	T	0.825917	0.48908	T	0.0846293	0.19596	0.10513882	0.25267	0.085181125	0.19748	0.1368433	0.32724	-4.747	0.33968	T	0.7689184864723688	0.85007	0.176	0.38569	B	.;.	.;.	4.335037	0.66457	25.0	0.99787247580287874	0.87308	0.76393	0.37463	D	AEFDBI	0.233365	0.35630	N	0.301435547555029	0.56223	3.786623	0.17635678744684	0.48553	3.069823	0.858840661621095	0.25186	0.706298	0.61202	0	0.601575	0.49859	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	3.45	3.45	0.38602	4.564000	0.60546	7.484000	0.59291	0.676000	0.76740	0.941000	0.32681	1.000000	0.68203	0.665000	0.33109	0.0:0.0:1.0:0.0	10.696	0.45093	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1149.98	34	chr1	5909165	.	G	C	1149.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.760e-01;DP=811;ExcessHet=0.0000;FS=1.503;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.18;ReadPosRankSum=0.655;SOR=0.884	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1133	20	0	1	0
chr1	5947226	5947226	C	T	exonic	NPHP4	.	nonsynonymous SNV	NPHP4:NM_015102:exon9:c.G997A:p.G333R,	Nephronophthisis 4, Autosomal recessive;Senior-Loken syndrome 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	269754	not_provided|Nephronophthisis|Nephronophthisis_4|Senior-Loken_syndrome_4	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MONDO:MONDO:0011752,MedGen:C1847013,OMIM:606966,Orphanet:655|MONDO:MONDO:0011756,MedGen:C1846979,OMIM:606996,Orphanet:3156	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.77	T	0.534	P	0.061	B	0.078	N	0.608	N	1.21	L	-2.3	D	-0.420	T	0.383	T	0.512	-0.840	0.573	4.28	2.517	2.098	9.894	0.379	0.0959839119573	.	.	2.496e-05	0	0	0	0	3.014e-05	0	6.072e-05	1.94e-05	3	154602	rs772219240	4.038e-05	4.036e-05	4.085e-05	3.989e-05	0.0002	3.18e-05	2.912e-05	4.358e-05	2.767e-05	0	0.0001	0	5.039e-05	0	0.0002	4.048e-05	3.314e-05	4.641e-05	3.943e-05	3.94e-05	1.285e-05	6.727e-05	0.0001	1.716e-05	1.13e-05	2.261e-05	9.07e-06	0	0.0011	0.0001	0	0	0	0	4.409e-05	0	0	0.209	0.19710	T	0.643	0.07741	T	0.534	0.37787	P	0.061	0.26820	B	0.078225	0.21056	N	0.438126	0.60832	0.30882	N	2.125	0.59049	M	-2.3	0.87671	D	-1.8	0.42384	N	0.43	0.46928	-0.4196	0.71406	T	0.383	0.73936	T	10	0.22985962	0.39923	T	0.095984	0.76525	D	0.379	0.69696	0.327	0.31034	0.86942058287	0.86815	0.3990504128101688	0.39820	0.0883067094732	0.09977	0.556887805462	0.46829	T	0.174197	0.52333	T	-0.0938767	0.37434	T	-0.146922	0.59515	T	0.100564956665039	0.12419	T	0.764624	0.40135	T	0.04481953	0.07229	0.08090848	0.18344	0.04481953	0.07229	0.08090848	0.18343	-3.488	0.19643	T	0.6786052531172994	0.75467	0.180	0.48531	B	.;.	.;.	2.729221	0.35717	19.97	0.59153087073030663	0.06157	0.41532	0.26678	N	AEFDBI	0.176749	0.30396	N	-0.328607667288552	0.28066	1.544967	-0.267896387905324	0.29163	1.631671	0.151560002592786	0.17449	0.706548	0.73137	0	0.724815	0.89359	0	0.786243	0.99158	0	0.699875	0.68795	0	.	.	5.39	4.28	0.50183	1.095000	0.30575	4.587000	0.43943	0.599000	0.40250	0.015000	0.19116	0.999000	0.35428	0.113000	0.18872	0.0:0.8918:0.0:0.1082	9.894	0.40478	759	0.50631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	474.98	33	chr1	5947226	.	C	T	474.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=733;ExcessHet=0.0000;FS=4.223;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.64;ReadPosRankSum=0.446;SOR=1.460	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr1	5986320	5986337	CGGATGATCTGTGCCAGT	-	splicing	NPHP4	.	.	.	Nephronophthisis 4, Autosomal recessive;Senior-Loken syndrome 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1270141044	1.37e-06	1.368e-06	1.363e-06	1.377e-06	9.001e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.001e-07	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1527.94	32	chr1	5986319	.	CCGGATGATCTGTGCCAGT	C	1527.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.060e-01;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.15;ReadPosRankSum=-2.800e-01;SOR=0.791	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1319	20	0	1	0
chr1	6418889	6418889	A	G	exonic	HES2	.	nonsynonymous SNV	HES2:NM_019089:exon4:c.T506C:p.L169P,	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.971	D	0.641	P	0.000	D	1.000	D	1.04	L	0.16	T	-0.779	T	0.184	T	0.48	2.757	15.18	4.92	1.985	1.896	11.258	0.179	0.172082817025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.062	0.45318	T	0.971	0.57185	D	0.641	0.52117	P	0.000318	0.45977	D	0.186253	1	0.81001	D	1.845	0.48678	L	0.16	0.60610	T	-0.27	0.11366	N	0.209	0.23253	-0.7790	0.56359	T	0.184	0.53285	T	10	0.29497874	0.47067	T	0.172083	0.84917	D	0.179	0.44899	0.395	0.42099	0.809292224219	0.80750	0.5054138067785604	0.50463	2.47001581911	0.97475	0.763432502747	0.76441	T	0.067009	0.33090	T	-0.0218713	0.48586	T	-0.269193	0.47901	T	0.861974358558655	0.51232	D	0.30147	0.05685	T	0.33706868	0.56045	0.41782895	0.65825	0.33706868	0.56045	0.41782895	0.65825	-4.822	0.34847	T	.	.	0.141	0.30842	B	.	.	3.869488	0.56167	23.7	0.98882049466569699	0.47841	0.82053	0.41341	D	AEFDBI	0.348010	0.44229	N	0.252567326900924	0.53764	3.54411	0.261161464645306	0.53285	3.498332	0.999999479220745	0.74766	0.582742	0.33608	0	0.563428	0.19063	0	0.61531	0.40942	0	0.620976	0.48614	0	.	.	4.92	4.92	0.64147	1.488000	0.35160	10.696000	0.83585	0.751000	0.87719	0.624000	0.27948	1.000000	0.68203	0.416000	0.27139	1.0:0.0:0.0:0.0	11.258	0.48295	829	0.39537	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	440.98	34	chr1	6418889	.	A	G	440.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.614e+00;DP=747;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=-1.709e+00;SOR=0.804	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,975	20	0	1	0
chr1	6445936	6445936	G	A	splicing	ESPN	NM_001367473:exon7:c.1464+1G>A;NM_001367474:exon7:c.1464+1G>A;NM_031475:exon7:c.1464+1G>A	.	.	Deafness, autosomal recessive 36, Autosomal recessive;Deafness, neurosensory, without vestibular involvement, autosomal dominant (3)	YES	.	.	.	.	.	.	.	1.0000	0.944	442877	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_36	MedGen:C3661900|MONDO:MONDO:0012170,MedGen:C1837007,OMIM:609006,Orphanet:90636	criteria_provided,_multiple_submitters,_no_conflicts	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.566	18.17	4.35	2.250	6.153	15.62	.	.	.	.	1.721e-05	0	0	0	0	1.571e-05	0	6.187e-05	1.29e-05	2	154602	rs752649606	1.233e-05	1.231e-05	5.45e-06	1.927e-05	0.0002	7.7e-06	6.36e-06	0.0001	8.655e-05	0	0	0	0	0	0	8.995e-07	3.314e-05	0.0002	1.315e-05	1.313e-05	0	2.69e-05	0.0004	2.19e-06	8.2e-07	7.307e-05	3.035e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17297	0.71396	D	0.214283	0.83886	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	6.117038	0.94599	34	0.99545362843443475	0.70773	0.77108	0.37877	D	AEFGBCI	.	.	.	0.99641452250496	0.95632	13.80947	0.804337271990419	0.90091	10.25321	0.9999999999998	0.74766	0.056701	0.00814	0	0.063554	0.01753	0	0.074216	0.02223	0	0.079188	0.02158	0	0.956349	0.63754	4.35	4.35	0.51454	4.900000	0.62939	9.645000	0.81157	0.606000	0.46413	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.0:0.0:1.0:0.0	15.62	0.76548	834	0.38640	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1199.98	34	chr1	6445936	.	G	A	1199.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.844e+00;DP=831;ExcessHet=0.0000;FS=1.553;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.93;MQRankSum=1.11;QD=11.01;ReadPosRankSum=-1.019e+00;SOR=0.504	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,940	20	0	1	0
chr1	6448885	6448885	C	T	exonic	ESPN	.	nonsynonymous SNV	ESPN:NM_031475:exon8:c.C1709T:p.P570L,	Deafness, autosomal recessive 36, Autosomal recessive;Deafness, neurosensory, without vestibular involvement, autosomal dominant (3)	.	5	1468	48	1	0	50	0.0167448	.	.	439091	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.682	N	1.000	D	0	N	-0.11	T	-0.976	T	0.084	T	0.061	2.307	13.67	0.938	0.144	-0.173	6.157	0.036	.	.	0.0103834	0.0717	0.0556	0.0556	0.05	.	0.05	0.0556	0.0770	0.0021539	333	154602	rs527968078	0.0057	0.0055	0.0052	0.0062	0.0271	0.0056	0.0055	0.0254	0.0247	0.0016	0.0153	0.0166	0.0271	0.0096	0.0206	0.0040	0.0065	0.0214	0.0060	0.0061	0.0055	0.0065	0.0174	0.0057	0.0056	0.0144	0.0133	0.0010	0	0.0122	0.0150	0.0150	0.0118	0.0240	0.0048	0.0071	0.0174	0.002	0.72154	D	0.003	0.76473	D	0.0	0.02946	B	0.001	0.04355	B	0.682431	0.10247	N	0.819423	0.866195	0.81001	D	0	0.06538	N	-0.11	0.64445	T	-0.31	0.12099	N	0.023	0.00407	-0.9755	0.36015	T	0.084	0.32843	T	10	0.002673477	0.00041	T	.	.	.	0.036	0.09122	.	.	.	.	0.1366551528883657	0.13589	0.14692160482	0.16579	0.814818620682	0.84232	D	0.050058	0.28486	T	-0.584215	0.00182	T	-0.592364	0.13461	T	0.0235663459691323	0.01091	T	0.731327	0.34690	T	0.09153358	0.21449	0.13736086	0.32835	0.08325275	0.19218	0.10993142	0.26499	-4.304	0.28232	T	.	.	0.080	0.22171	B	.;.;.;.	.;.;.;.	2.423806	0.31168	18.66	0.98997328779848048	0.50065	0.01974	0.05975	N	AEFDBHCIJ	0.081452	0.16482	N	-0.986560555147902	0.08889	0.4185977	-0.86336138322725	0.12966	0.6700624	0.999999999374865	0.74766	0.59774	0.34471	0	0.541168	0.11318	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	5.0	0.938	0.18625	-0.552000	0.06110	2.361000	0.32372	0.446000	0.21189	0.000000	0.06391	0.937000	0.28687	0.512000	0.29290	0.0:0.5768:0.1312:0.292	6.157	0.19558	833	0.38804	.;.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.02381	611.98	33	chr1	6448885	.	C	T	611.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.930e-01;DP=668;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.10;ReadPosRankSum=-7.700e-02;SOR=0.639	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1227	20	0	1	0
chr1	6451693	6451693	C	T	exonic	ESPN	.	nonsynonymous SNV	ESPN:NM_031475:exon9:c.C2006T:p.P669L	Deafness, autosomal recessive 36, Autosomal recessive;Deafness, neurosensory, without vestibular involvement, autosomal dominant (3)	.	0	1518	4	0	0	4	0.00131579	.	.	1175942	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	1.0	D	1.0	D	0.000	D	1.000	D	2.19	M	0.87	T	-0.556	T	0.264	T	0.528	3.321	17.17	4.95	2.572	5.373	17.351	0.200	0.172782137016	7.7e-05	.	0.0002	0	9.147e-05	0	0	0.0003	0	0	0.0001358	21	154602	rs146261521	0.0001	0.0001	9.535e-05	0.0001	0.0010	8.921e-05	8.405e-05	0.0005	0.0003	0	0.0004	0.0002	0	0	0.0010	9.893e-05	0.0002	0	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0001	0.0007	0.0005	7.214e-05	0	0.0010	0	0	0	0.0034	0.0002	0.0005	0	0.002	0.72154	D	0.02	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000102	0.50451	D	0.132942	0.999983	0.81001	D	2.125	0.59049	M	0.87	0.46412	T	-5.28	0.93509	D	0.348	0.53972	-0.5565	0.66538	T	0.264	0.63469	T	10	0.25626928	0.43028	T	0.172782	0.84966	D	0.200	0.48430	.	.	0.433379234345	0.42955	0.31551681879849763	0.31464	0.270625712525	0.29589	0.774583637714	0.78110	T	0.620891	0.88115	D	-0.274956	0.11211	T	-0.292182	0.45544	T	0.282362014055252	0.24270	T	0.949805	0.80758	D	0.4395465	0.63373	0.5426696	0.73567	0.4395465	0.63374	0.5426696	0.73567	-11.752	0.83622	D	.	.	0.308	0.60297	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.630965	0.73628	26.0	0.998478655805773	0.92750	0.95382	0.64502	D	AEFDBHCI	0.775965	0.70922	D	0.42573393452435	0.62840	4.506894	0.298118825217091	0.55431	3.70599	0.999999998723815	0.74766	0.695654	0.57023	0	0.626922	0.53725	0	0.723109	0.80598	0	0.620976	0.48614	0	.	.	4.95	4.95	0.64894	3.605000	0.53839	7.552000	0.60294	0.537000	0.25018	0.979000	0.35152	1.000000	0.68203	0.470000	0.28341	0.0:1.0:0.0:0.0	17.351	0.87213	833	0.38804	WH2 domain;WH2 domain;WH2 domain;WH2 domain;.;WH2 domain;WH2 domain;WH2 domain;WH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1226.98	34	chr1	6451693	.	C	T	1226.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.670e-01;DP=777;ExcessHet=0.0000;FS=0.776;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=1.29;SOR=0.558	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,950	20	0	1	0
chr1	6477538	6477538	G	T	exonic	PLEKHG5	.	nonsynonymous SNV	PLEKHG5:NM_001042664:exon2:c.C34A:p.P12T	Charcot-Marie-Tooth disease, recessive intermediate C, Autosomal recessive;Spinal muscular atrophy, distal, autosomal recessive, 4, Autosomal recessive	.	0	1512	10	0	0	10	0.00329598	.	.	244294	Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_4|Inborn_genetic_diseases|Charcot-Marie-Tooth_disease_recessive_intermediate_C|not_provided|PLEKHG5-related_disorder	MONDO:MONDO:0012608,MedGen:C1970211,OMIM:611067,Orphanet:206580|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014154,MedGen:C3809309,OMIM:615376,Orphanet:369867|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.911	P	0.392	B	0.000	D	1.000	D	1.67	L	0.65	T	-0.381	T	0.257	T	0.344	2.703	15.00	3.58	0.986	5.113	8.134	0.144	0.149601944655	0.0003	0.000798722	0.0014	0.0003	0.0004	0	0	0.0004	0.0011	0.0084	0.0012484	193	154602	rs140687324	0.0007	0.0007	0.0005	0.0010	0.0085	0.0007	0.0007	0.0080	0.0078	0.0002	0.0005	0.0002	2.519e-05	0	0.0021	0.0002	0.0011	0.0085	0.0004	0.0004	0.0004	0.0004	0.0043	0.0003	0.0003	0.0029	0.0024	4.81e-05	0	0.0002	0.0003	0	0	0.0034	0.0004	0.0009	0.0043	0.005	0.63226	D	0.037	0.51737	D	0.911	0.50336	P	0.392	0.44215	B	0.000261	0.46924	D	0.147380	0.537585	0.81001	D	1.5	0.37844	L	0.65	0.71425	T	-2.99	0.63323	D	0.544	0.59986	-0.3808	0.72626	T	0.257	0.62721	T	10	0.009963274	0.00223	T	0.149602	0.83139	D	0.144	0.38394	.	.	0.776347765929	0.77428	0.2151088601651428	0.21426	0.976565210549	0.73585	0.490697264671	0.37536	T	0.565013	0.85503	D	-0.337574	0.05557	T	-0.25128	0.49690	T	0.0498441199077018	0.05473	T	0.951005	0.84742	D	0.14777207	0.33767	0.118723296	0.28657	0.13641535	0.31624	0.1322113	0.31731	-10.308	0.75735	D	.	.	0.110	0.34227	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.516845	0.32515	19.07	0.99192941050664951	0.55024	0.96660	0.70264	D	AEFDBI	0.575831	0.57806	D	0.213610288346665	0.51858	3.363941	0.225171061789757	0.51249	3.308989	0.996786494345912	0.35006	0.706548	0.73137	0	0.588066	0.40923	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.52	3.58	0.40133	3.901000	0.56015	6.337000	0.55470	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.032000	0.13371	0.0909:0.1628:0.7463:0.0	8.134	0.30206	835	0.38313	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1161.98	114	chr1	6477538	.	G	T	1161.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.770e+00;DP=806;ExcessHet=0.0000;FS=0.699;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.19;ReadPosRankSum=1.39;SOR=0.795	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1271	20	0	1	0
chr1	6532740	6532740	T	C	exonic	NOL9	.	nonsynonymous SNV	NOL9:NM_024654:exon8:c.A1258G:p.I420V,	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.011	B	0.01	B	0.005	N	0.963	N	-0.2	N	1.08	T	-1.028	T	0.031	T	0.116	1.005	9.106	2.52	0.193	0.807	8.034	0.008	.	.	0.00379393	0.0019	0	0	0.0260	0	4.635e-05	0	0.0002	0.0016753	259	154602	rs17029613	0.0007	0.0007	0.0007	0.0007	0.0247	0.0007	0.0007	0.0234	0.0229	2.99e-05	2.239e-05	0	0.0247	0	0.0002	1.44e-05	0.0005	0.0003	0.0008	0.0008	0.0008	0.0008	0.0214	0.0007	0.0006	0.0182	0.0170	0	0	0.0001	0	0.0214	0	0	1.47e-05	0.0014	0.0004	0.929	0.02256	T	0.606	0.07791	T	0.011	0.15914	B	0.01	0.14941	B	0.004512	0.33669	N	0.254066	0.962662	0.26057	N	0.06	0.08197	N	1.08	0.39401	T	-0.23	0.10656	N	0.082	0.05799	-1.0278	0.21168	T	0.031	0.13155	T	10	0.004010856	0.00078	T	.	.	.	0.008	0.00669	.	.	0.220303561663	0.21668	0.3173879305641307	0.31651	0.388189481268	0.40082	0.276008427143	0.06942	T	0.029467	0.21107	T	-0.597636	0.00151	T	-0.612985	0.11744	T	0.00556125418269381	0.00061	T	0.675632	0.28413	T	0.02489878	0.01368	0.035324574	0.02764	0.02489878	0.01367	0.035324574	0.02764	-3.237	0.12938	T	.	.	0.078	0.06803	B	.	.	1.194031	0.15853	12.15	0.83951312818424384	0.15012	0.70040	0.34428	D	AEFBCI	0.053550	0.09658	N	-0.699795765919861	0.16027	0.8130148	-0.529159756237435	0.21362	1.155285	0.825930408975002	0.24607	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.04	2.52	0.29514	0.755000	0.26070	0.279000	0.16745	0.645000	0.52629	0.996000	0.39380	0.699000	0.26222	0.989000	0.64315	0.0:0.2419:0.0:0.7581	8.034	0.29643	754	0.51307	Polyribonucleotide 5'-hydroxyl-kinase Clp1, P-loop domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2046.98	33	chr1	6532740	.	T	C	2046.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.890e+00;DP=915;ExcessHet=0.0000;FS=5.040;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.55;ReadPosRankSum=-2.086e+00;SOR=0.434	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1263	20	0	1	0
chr1	6555409	6555409	G	C	exonic	TAS1R1	.	nonsynonymous SNV	TAS1R1:NM_138697:exon1:c.G36C:p.Q12H	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.222	B	0.043	B	0.038	N	0.999	N	0.69	N	-2.46	D	-0.680	T	0.109	T	0.189	3.108	16.38	1.17	0.481	0.712	4.612	0.242	.	0.0002	0.0113818	0.0057	0.0002	0	0.0733	0	2.634e-05	0.0039	0.0007	0.0035252	545	154602	rs75881102	0.0016	0.0016	0.0017	0.0015	0.0513	0.0016	0.0015	0.0495	0.0487	0	6.806e-05	0	0.0513	0	0.0002	3.425e-05	0.0039	0.0005	0.0020	0.0020	0.0018	0.0022	0.0509	0.0018	0.0017	0.0459	0.0439	0	0	0.0017	0	0.0509	0	0	4.409e-05	0.0024	0.0006	0.005	0.91255	D	0.168	0.34359	T	0.012	0.16265	B	0.006	0.12133	B	0.037741	0.01838	N	2.257320	0.999148	0.21576	N	.	.	.	-2.46	0.91192	D	-0.34	0.22294	N	0.189	0.27673	-0.6805	0.61349	T	0.109	0.39462	T	10	0.0036830604	0.00068	T	.	.	.	0.242	0.54781	0.487	0.57098	0.551009825273	0.54757	0.5893080090986877	0.58860	0.15539898781	0.17539	0.395897090435	0.24498	T	0.047341	0.27694	T	-0.310079	0.07740	T	-0.180939	0.56437	T	0.0777268205650559	0.09693	T	0.640436	0.25296	T	0.072656915	0.16180	0.096488826	0.22929	0.072656915	0.16180	0.096488826	0.22928	-3.658	0.18700	T	.	.	0.159	0.35119	B	.;.	.;.	0.950609	0.13269	9.768	0.9864516869967761	0.44110	0.47496	0.27996	N	AEFDGBCIJ	0.080929	0.16368	N	-0.855265901914736	0.11921	0.5780545	-0.770268785450118	0.15225	0.7996643	0.999988284130698	0.51787	0.403107	0.06075	0	0.541556	0.11502	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.46	1.17	0.19998	0.729000	0.25696	2.052000	0.30351	-0.734000	0.03706	0.990000	0.36992	0.999000	0.35428	0.007000	0.07825	0.1089:0.0:0.4765:0.4146	4.612	0.11796	851	0.35303	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	702.98	40	chr1	6555409	.	G	C	702.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.480e+00;DP=754;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=1.83;SOR=0.712	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr1	6581000	6581000	G	C	exonic	ZBTB48	.	nonsynonymous SNV	ZBTB48:NM_001278647:exon2:c.G391C:p.G131R	.	.	407	1104	11	0	0	11	0.00495719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.011	B	0.005	B	0.040	N	1.000	N	0.345	N	2.85	T	-1.057	T	0.040	T	0.281	2.395	13.97	5.18	2.410	1.938	16.193	0.035	.	0.0002	0.000998403	0.0021	0.0001	0.0046	0	0	0.0004	0.0033	0.0104	0.0017076	264	154602	rs200132214	0.0009	0.0009	0.0005	0.0012	0.0107	0.0008	0.0008	0.0102	0.0099	0.0002	0.0024	0.0002	0	0	0.0024	0.0001	0.0009	0.0107	0.0005	0.0005	0.0003	0.0006	0.0091	0.0004	0.0003	0.0070	0.0062	4.812e-05	0	0.0007	0.0003	0	0	0.0068	0.0002	0	0.0091	0.081	0.33418	T	0.465	0.35710	T	0.011	0.15914	B	0.005	0.11217	B	0.039961	0.24111	N	0.459886	1	0.08975	N	.	.	.	1.8	0.25509	T	-1.15	0.29525	N	0.109	0.09490	-1.0574	0.12414	T	0.040	0.17234	T	10	0.0033471286	0.00058	T	.	.	.	0.035	0.08770	0.217	0.13788	0.043077524339	0.03247	0.36353198169895623	0.36267	0.450729479495	0.44836	0.386905312538	0.23232	T	0.063585	0.32215	T	-0.519697	0.00442	T	-0.511323	0.21179	T	0.0335401307800138	0.02561	T	0.806219	0.45479	T	0.112690106	0.26621	0.12003911	0.28972	0.112690106	0.26620	0.12003911	0.28971	-4.249	0.27455	T	.	.	0.133	0.40858	B	.;.;.	.;.;.	2.297345	0.29395	18.11	0.99599395657260059	0.74101	0.22629	0.21810	N	ALL	0.166628	0.29322	N	-0.53444359738725	0.20974	1.109666	-0.409121664179864	0.24730	1.355839	0.999999999999931	0.74766	0.766844	0.99359	0	0.484254	0.07192	0	0.851219	0.99655	0	0.721622	0.92947	0	.	.	5.18	5.18	0.71140	1.350000	0.33615	7.458000	0.59026	0.672000	0.70159	0.016000	0.19238	1.000000	0.68203	0.559000	0.30388	0.0:0.0:1.0:0.0	16.193	0.81824	761	0.50382	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1447.98	142	chr1	6581000	.	G	C	1447.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.051;DP=843;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.20;ReadPosRankSum=-5.490e-01;SOR=0.702	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1061	20	0	1	0
chr1	6632889	6632889	C	T	exonic	THAP3	.	nonsynonymous SNV	THAP3:NM_001195752:exon5:c.C529T:p.H177Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.996	D	0.991	D	0.007	N	1.000	D	2.095	M	-3.99	D	0.968	D	0.909	D	0.581	3.782	19.20	4.05	2.071	4.389	11.575	0.640	0.397860294551	.	.	.	.	.	.	.	.	.	.	.	.	.	rs968143932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.993	0.68779	D	0.979	0.79672	D	0.006697	0.31864	N	0.211412	0.99762	0.81001	D	2.085	0.57729	M	-3.99	0.96308	D	-4.48	0.77965	D	0.652	0.67650	0.968	0.96669	D	0.909	0.96986	D	10	0.797339	0.79189	D	0.39786	0.93332	D	0.640	0.86283	0.349	0.34598	0.913766752971	0.91290	0.4809612143496493	0.48016	1.13332111402	0.78691	0.672153413296	0.63144	T	0.193725	0.54928	T	0.233683	0.77067	D	0.0978926	0.76768	D	0.989117324352264	0.79372	D	0.80342	0.45053	T	0.42294854	0.62287	0.49044633	0.70520	0.42294854	0.62288	0.49044633	0.70521	-7.247	0.56480	T	.	.	0.717	0.73934	P	.;.	.;.	4.709019	0.75631	26.4	0.99716318213912158	0.81703	0.91187	0.53031	D	AEFDBCI	0.628351	0.61047	D	0.556172317222219	0.70459	5.504556	0.489561293977961	0.67298	5.065126	0.999972958123827	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	4.05	4.05	0.46415	4.711000	0.61570	7.544000	0.60141	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.928000	0.46473	0.0:1.0:0.0:0.0	11.575	0.50113	739	0.53257	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1788.98	37	chr1	6632889	.	C	T	1788.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.650e-01;DP=876;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=-7.170e-01;SOR=0.711	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1191	20	0	1	0
chr1	6820184	6820184	G	A	exonic	CAMTA1	.	nonsynonymous SNV	CAMTA1:NM_001195563:exon2:c.G49A:p.V17I	Cerebellar ataxia, nonprogressive, with mental retardation, Autosomal dominant	.	1	1519	2	0	0	2	0.000657895	.	.	2805606	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.192	B	0.022	B	0.008	N	1.000	N	0	N	2.09	T	-1.034	T	0.025	T	0.291	3.488	17.84	4.14	2.826	3.752	11.050	0.063	0.00328698606741	.	0.000199681	0.0002	0	0	0	0	3.008e-05	0	0.0012	0.0001423	22	154602	rs572304401	7.653e-05	8.078e-05	3.615e-05	0.0001	0.0012	6.453e-05	6.015e-05	0.0010	0.0009	0	0	0	5.079e-05	0	0	2.879e-06	5.192e-05	0.0012	1.97e-05	1.969e-05	1.285e-05	2.686e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.003e-05	0	0	0	0	0	0	0	0	0	0.0006	0.072	0.37966	T	0.539	0.09795	T	0.192	0.29441	B	0.022	0.19653	B	0.008287	0.30918	N	0.123969	1	0.81001	D	0.345	0.11182	N	2.09	0.20122	T	-0.25	0.13418	N	0.366	0.47949	-1.0342	0.19109	T	0.025	0.10598	T	10	0.0333502	0.01509	T	0.003287	0.07298	T	0.063	0.18251	0.534	0.64293	0.426039362998	0.42221	0.05453653266779943	0.05395	0.441369322318	0.44128	0.850745916367	0.89727	D	0.008484	0.07792	T	-0.459917	0.00984	T	-0.473948	0.25091	T	0.110497826783548	0.13475	T	0.541546	0.18382	T	0.09704334	0.22868	0.049433563	0.07554	0.09704334	0.22867	0.049433563	0.07553	-3.648	0.18553	T	.	.	0.113	0.28693	B	.;.;.	.;.;.	4.754937	0.76815	26.6	0.99871973850192419	0.94989	0.87127	0.46574	D	AEFBI	0.497584	0.53205	N	-0.0853488829304547	0.38035	2.221567	0.118436853907567	0.45493	2.811406	0.999744434348866	0.42466	0.741868	0.97996	0	0.658105	0.61773	0	0.709663	0.75317	0	0.662026	0.63922	0	.	.	5.12	4.14	0.47821	3.776000	0.55063	11.050000	0.85287	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1874:0.8126:0.0	11.050	0.47100	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	3391.66	33	chr1	6820184	.	G	A	3391.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.55;DP=824;ExcessHet=0.0000;FS=1.353;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=20.07;ReadPosRankSum=-4.540e-01;SOR=0.560	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1147	19	1	1	0
chr1	7738307	7738307	C	T	exonic	CAMTA1	.	nonsynonymous SNV	CAMTA1:NM_001349613:exon6:c.C1136T:p.T379I	Cerebellar ataxia, nonprogressive, with mental retardation, Autosomal dominant	.	0	1497	25	0	0	25	0.00828089	.	.	707518	Cerebellar_dysfunction_with_variable_cognitive_and_behavioral_abnormalities|not_provided|not_specified	MONDO:MONDO:0013886,MedGen:C3553661,OMIM:614756,Orphanet:314647|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.19	T	0.179	B	0.052	B	0.005	N	1.000	N	1.1	L	2.1	T	-1.067	T	0.031	T	0.495	1.666	11.53	4.92	2.424	5.450	13.881	0.075	0.00558675282987	0.0009	0.00299521	0.0022	0.0004	0.0019	0.0002	0	0.0013	0.0078	0.0090	0.002044	316	154602	rs137974312	0.0014	0.0014	0.0011	0.0016	0.0144	0.0013	0.0013	0.0119	0.0110	0.0011	0.0020	0.0075	2.519e-05	3.747e-05	0.0144	0.0006	0.0030	0.0083	0.0014	0.0014	0.0013	0.0016	0.0104	0.0013	0.0012	0.0081	0.0073	0.0002	0.0044	0.0038	0.0069	0.0002	0	0.0034	0.0010	0.0019	0.0104	0.221	0.18889	T	0.3	0.20357	T	0.018	0.17786	B	0.023	0.19966	B	0.004685	0.33486	N	0.322239	0.987063	0.24555	N	0.805	0.20218	L	2.1	0.19990	T	-1.33	0.33197	N	0.499	0.53181	-1.0668	0.10131	T	0.031	0.13155	T	10	0.007980347	0.00181	T	0.005587	0.14439	T	0.075	0.21907	.	.	0.320526991862	0.31653	0.37032601794867054	0.36946	0.55727763093	0.52347	0.660529732704	0.61485	T	0.036333	0.24062	T	-0.467838	0.00877	T	-0.439526	0.28862	T	0.0205212488533104	0.00752	T	0.881912	0.60169	D	0.12119001	0.28504	0.106918946	0.25732	0.12787433	0.29911	0.123086214	0.29683	-4.006	0.23893	T	.	.	0.173	0.37932	B	.	.	3.150100	0.42638	21.6	0.99226296546530712	0.56057	0.97515	0.75251	D	AEFDBI	0.328349	0.42904	N	0.0393208996235288	0.43653	2.653999	0.211358055926675	0.50477	3.239326	0.692290302099544	0.22602	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.92	4.92	0.64147	1.526000	0.35570	7.623000	0.62394	0.599000	0.40250	0.956000	0.33378	1.000000	0.68203	1.000000	0.97212	0.0:0.9238:0.0:0.0761	13.881	0.63185	787	0.46738	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	5613.08	34	chr1	7738307	.	C	T	5613.08	.	AC=2;AF=0.048;AN=42;DP=864;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.26;SOR=1.005	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1188	20	1	0	0
chr1	7738432	7738432	C	T	exonic	CAMTA1	.	nonsynonymous SNV	CAMTA1:NM_001349613:exon6:c.C1261T:p.R421C	Cerebellar ataxia, nonprogressive, with mental retardation, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.999	D	0.905	P	0.000	D	1.000	D	1.7	L	1.99	T	-1.066	T	0.098	T	0.824	3.061	16.22	3.93	2.424	1.484	12.851	0.193	0.0352507202143	.	.	.	.	.	.	.	.	.	.	.	.	.	rs374903153	5.473e-06	5.472e-06	8.167e-06	2.75e-06	7.194e-06	2.35e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	0	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	2.414e-05	2.19e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.049	0.48336	D	0.998	0.73220	D	0.772	0.56930	P	0.000000	0.84330	D	0.000000	0.999819	0.49394	D	1.95	0.52479	M	1.98	0.21865	T	-3.6	0.69357	D	0.563	0.58713	-1.0661	0.10293	T	0.098	0.36703	T	10	0.61075574	0.67431	D	0.035251	0.56218	D	0.193	0.47281	.	.	0.670222840295	0.66744	0.41823707182858655	0.41739	1.41059660293	0.85437	0.336261719465	0.15878	T	0.183742	0.53618	T	0.0860727	0.62745	D	-0.114139	0.62280	T	0.986872911453247	0.77488	D	0.972103	0.89869	D	0.4060008	0.61146	0.3404536	0.59797	0.4060008	0.61147	0.3404536	0.59797	-3.693	0.19215	T	0.1473393957829106	0.17068	0.128	0.27343	B	.	.	4.923297	0.81112	27.5	0.99919089684638029	0.98654	0.89652	0.50254	D	AEFDBI	0.447302	0.50300	N	0.478472409093613	0.65833	4.872675	0.457110820202858	0.65176	4.79071	0.025474128461117	0.13651	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.92	3.93	0.44666	1.487000	0.35149	4.743000	0.44617	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.718000	0.34707	0.2828:0.7172:0.0:0.0	12.851	0.57244	787	0.46738	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	861.98	34	chr1	7738432	.	C	T	861.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=764;ExcessHet=0.0000;FS=0.928;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=-2.790e-01;SOR=0.846	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1188	20	0	1	0
chr1	7827202	7827202	G	A	exonic	PER3	.	nonsynonymous SNV	PER3:NM_001289861:exon18:c.G2273A:p.S758N	.	.	410	1084	28	0	0	28	0.0127505	.	.	696879	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.443	B	0.112	B	0.000	N	1.000	N	2.16	M	2.7	T	-0.939	T	0.038	T	0.027	3.405	17.50	2.48	0.459	0.446	12.329	0.090	.	0.0045	0.00299521	0.0057	0.0015	0.0025	0.0001	0.0020	0.0067	0.0068	0.0109	0.0055303	855	154602	rs140974114	0.0067	0.0067	0.0067	0.0068	0.0107	0.0066	0.0066	0.0087	0.0085	0.0012	0.0030	0.0038	0	0.0020	0.0107	0.0075	0.0053	0.0092	0.0047	0.0047	0.0051	0.0043	0.0075	0.0044	0.0043	0.0070	0.0067	0.0014	0.0230	0.0033	0.0052	0	0.0015	0.0136	0.0075	0.0052	0.0058	0.06	0.53172	T	0.023	0.57587	D	0.443	0.35940	B	0.112	0.31615	B	0.000000	0.00162	N	7739.210000	1	0.08975	N	1.935	0.51832	L	2.7	0.12371	T	-1.11	0.28703	N	0.062	0.07125	-0.9394	0.42711	T	0.038	0.16246	T	10	0.0038220286	0.00072	T	.	.	.	0.090	0.26093	.	.	0.402899589544	0.39908	0.10486589036774804	0.10416	0.222339536116	0.24767	0.255118489265	0.04326	T	0.058268	0.50683	T	-0.699133	0.00037	T	-0.767638	0.02847	T	0.0246835238520997	0.01231	T	0.353565	0.07967	T	0.1713542	0.37764	0.16042301	0.37365	0.13994	0.32306	0.16042301	0.37364	-5.066	0.37548	T	0.3907261575740155	0.48394	0.111	0.24733	B	.;.;.;.	.;.;.;.	1.112850	0.14983	11.49	0.98711722552166736	0.45069	0.19769	0.20788	N	AEFDBHCI	0.059648	0.11282	N	-0.652478039679611	0.17388	0.8943448	-0.748341493480713	0.15762	0.8306339	0.999999997561841	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.375	0.06713	1	.	.	4.43	2.48	0.29194	0.661000	0.24706	0.091000	0.14516	0.676000	0.76740	0.001000	0.13787	0.000000	0.08366	0.021000	0.11733	0.0:0.2986:0.7014:0.0	12.329	0.54353	524	0.74079	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	713.98	36	chr1	7827202	.	G	A	713.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.661;DP=1011;ExcessHet=0.0000;FS=3.671;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.98;ReadPosRankSum=0.348;SOR=0.324	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1800	20	0	1	0
chr1	7835906	7835906	C	T	exonic	PER3	.	nonsynonymous SNV	PER3:NM_001289862:exon20:c.C3359T:p.T1120I	.	.	430	1082	10	0	0	10	0.00459982	.	.	3207130	PER3-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	N	2.07	M	2.3	T	-1.090	T	0.093	T	0.523	0.343	5.858	3.07	0.889	1.651	8.478	0.140	0.0126678192079	0.0005	0.00199681	0.0012	0.0002	0.0012	0	0	0.0009	0.0033	0.0036	0.0010867	168	154602	rs35802556	0.0007	0.0007	0.0006	0.0008	0.0068	0.0007	0.0006	0.0051	0.0045	0.0002	0.0018	0.0017	0	3.744e-05	0.0068	0.0004	0.0015	0.0033	0.0007	0.0007	0.0007	0.0007	0.0043	0.0006	0.0005	0.0029	0.0024	0.0001	0	0.0014	0.0006	0.0002	0	0.0034	0.0007	0.0014	0.0043	0.005	0.68238	D	0.005	0.72224	D	0.993	0.66517	D	0.911	0.68276	D	0.000001	0.62929	D	0.056701	0.999998	0.18612	N	1.995	0.54099	M	2.3	0.16953	T	-2.98	0.63554	D	0.336	0.37717	-1.0898	0.05565	T	0.093	0.35390	T	10	0.010260373	0.00229	T	0.012668	0.31446	T	0.140	0.37593	.	.	0.425851741357	0.42205	0.801088203668532	0.80062	0.0910621410951	0.10283	0.418456315994	0.27625	T	0.291599	0.72922	T	-0.450412	0.01123	T	-0.422183	0.30825	T	0.0657858276570351	0.08046	T	0.561944	0.20346	T	0.24689956	0.47664	0.14406288	0.34215	0.2582306	0.48872	0.16181502	0.37618	-5.695	0.43649	T	0.7634413780337159	0.84507	0.268	0.51032	B	.;.;.;.	.;.;.;.	0.772759	0.11430	8.036	0.92766735841159331	0.22278	0.37649	0.25809	N	AEFBI	0.086952	0.17630	N	-0.00903532443446479	0.41446	2.479162	-0.227646104577955	0.30549	1.721047	0.0199741062019359	0.13214	0.651	0.46895	0	0.547309	0.14657	0	0.65145	0.50148	0	0.620846	0.47308	0	.	.	3.98	3.07	0.34476	1.688000	0.37308	0.134000	0.15084	-0.817000	0.03001	0.400000	0.26170	0.001000	0.17328	0.001000	0.02609	0.0:0.8908:0.0:0.1092	8.478	0.32188	566	0.70798	.;Period circadian-like, C-terminal;.;Period circadian-like, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	5005.08	33	chr1	7835906	.	C	T	5005.08	.	AC=2;AF=0.048;AN=42;DP=862;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.79;SOR=1.080	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1054	20	1	0	0
chr1	7933279	7933279	T	C	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon7:c.A562G:p.I188V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.001	B	0.001	B	0.002	N	1.000	N	0.92	L	3.26	T	-0.980	T	0.013	T	0.036	-0.583	1.382	-6.64	-1.108	-1.748	1.801	0.019	0.00322881089952	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1422125870	4.106e-06	4.104e-06	1.362e-06	6.879e-06	6.963e-05	1.48e-06	9.7e-07	2.997e-05	2.039e-05	0	0	0	0	0	0	0	0	6.963e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.766	0.03421	T	0.615	0.27855	T	0.001	0.07471	B	0.001	0.04355	B	0.001980	0.00848	N	2.877280	1	0.08975	N	2.225	0.63025	M	3.26	0.46028	T	-0.29	0.11728	N	0.07	0.04307	-0.9800	0.35002	T	0.013	0.05081	T	10	0.06785095	0.09512	T	0.003229	0.07117	T	0.019	0.03383	0.337	0.32654	0.130388298395	0.12655	0.14598170991795134	0.14520	0.0757698424566	0.08505	0.269181847572	0.06035	T	0.148063	0.48644	T	-0.462213	0.00952	T	-0.801083	0.01875	T	0.0571555953774738	0.06713	T	0.263374	0.04839	T	0.01753673	0.00281	0.024458949	0.00466	0.01753673	0.00281	0.024458949	0.00466	-3.348	0.14364	T	.	.	0.079	0.16143	B	.;.;.	.;.;.	-1.269141	0.00465	0.010	0.25531466869519609	0.01181	0.01024	0.03847	N	AEFBI	0.062436	0.12001	N	-1.37358184774086	0.02887	0.1281695	-1.47322740192701	0.02566	0.1182411	0.177775733794763	0.17828	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.42	-6.64	0.01635	-1.766000	0.01895	-2.713000	0.03439	-0.762000	0.03503	0.000000	0.06391	0.000000	0.08366	0.105000	0.18517	0.2248:0.1766:0.4202:0.1784	1.801	0.02886	804	0.43891	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02778	92.1	43	chr1	7933279	.	T	C	92.1	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.923;DP=713;ExcessHet=0.0000;FS=8.994;InbreedingCoeff=-0.0641;MLEAC=1;MLEAF=0.028;MQ=60.00;MQRankSum=0.00;QD=3.18;ReadPosRankSum=0.156;SOR=3.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:30,0:30:48:.:.:0,48,764	17	0	1	3
chr1	7933282	7933282	T	C	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon7:c.A559G:p.I187V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	0.002	B	0.001	B	0.031	N	1.000	N	0.46	N	3.34	T	-0.965	T	0.008	T	0.041	-0.002	4.003	-6.6	-1.007	-4.202	1.562	0.009	0.00270495129526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06147	T	0.002	0.09854	B	0.001	0.04355	B	0.030551	0.01722	N	2.226600	1	0.08975	N	0.22	0.09567	N	3.34	0.38883	T	-0.08	0.08187	N	0.064	0.03613	-0.9649	0.38230	T	0.008	0.02926	T	10	0.039113462	0.02377	T	0.002705	0.05550	T	0.009	0.00846	0.276	0.22845	0.0954503805726	0.09146	0.14244755294639133	0.14167	0.0755766024316	0.08479	0.303215026855	0.10881	T	0.091535	0.38816	T	-0.396887	0.02426	T	-0.807877	0.01713	T	0.0528059709509316	0.05985	T	0.343166	0.08297	T	0.014398486	0.00092	0.024658427	0.00489	0.014398486	0.00092	0.024658427	0.00489	-3.107	0.11376	T	.	.	0.082	0.20117	B	.;.;.	.;.;.	-2.656894	0.00022	0.001	0.31864493878579497	0.01817	0.00640	0.02800	N	AEFBI	0.053752	0.09712	N	-1.55403076293908	0.01511	0.06599016	-1.62642963533454	0.01502	0.06801238	0.1723792661722	0.17755	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	-6.6	0.01657	-4.246000	0.00304	-7.248000	0.01198	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.131000	0.19607	0.269:0.3775:0.1367:0.2167	1.562	0.02441	804	0.43891	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2778	864.06	40	chr1	7933282	.	T	C	864.06	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-3.070e-01;DP=693;ExcessHet=6.5132;FS=112.254;InbreedingCoeff=-0.4232;MLEAC=12;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=2.69;ReadPosRankSum=0.238;SOR=9.320	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:24,6:30:6:.:.:0,6,402	8	0	10	3
chr1	7933284	7933284	T	C	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon7:c.A557G:p.Q186R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.013	B	0.014	B	0.332	N	1.000	N	1.04	L	3.23	T	-0.952	T	0.017	T	0.174	-0.120	3.413	0.698	0.020	-0.263	4.014	0.025	0.00492114500008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.22400	T	0.141	0.33442	T	0.013	0.16609	B	0.014	0.16862	B	0.332256	0.04138	N	1.435410	1	0.08975	N	1.6	0.40776	L	3.23	0.49642	T	-1.74	0.41239	N	0.27	0.30800	-0.9518	0.40660	T	0.017	0.07092	T	10	0.08167744	0.13399	T	0.004921	0.12380	T	0.025	0.05312	0.347	0.34274	0.199424873507	0.19547	0.4534572498753928	0.45263	0.102056697399	0.11557	0.240433782339	0.02830	T	0.236674	0.60419	T	-0.227205	0.17020	T	-0.56414	0.15990	T	0.0580137530836064	0.06852	T	0.353565	0.07967	T	0.06338034	0.13338	0.077297464	0.17204	0.06338034	0.13337	0.077297464	0.17204	-4.235	0.27255	T	.	.	0.076	0.16670	B	.;.;.	.;.;.	0.239267	0.06198	2.647	0.2184958286528946	0.00852	0.02365	0.06735	N	AEFBI	0.079208	0.15995	N	-1.0471985639571	0.07642	0.3557194	-1.07439610198478	0.08206	0.402493	5.82196307899026E-4	0.07390	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	0.698	0.17247	-0.275000	0.08557	-1.120000	0.06271	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.142000	0.20019	0.0:0.1989:0.2058:0.5953	4.014	0.09123	804	0.43891	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	102.98	39	chr1	7933284	.	T	C	102.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.534e+00;DP=697;ExcessHet=0.0000;FS=8.541;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.12;ReadPosRankSum=0.736;SOR=2.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:81:.:.:0,81,1215	20	0	1	0
chr1	7933285	7933285	G	A	exonic	TNFRSF9	.	stopgain	TNFRSF9:NM_001561:exon7:c.C556T:p.Q186X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	T	.	.	.	.	0.332	N	1.000	A	.	.	.	.	.	.	.	.	.	4.414	23.4	4.43	2.479	1.180	12.735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.423e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.332256	0.04138	N	1.435410	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.855	0.85132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.366827	0.87775	D	0.289145	0.87619	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.	.;High;.	6.175517	0.94728	34	0.99348834800104535	0.60493	0.10423	0.15934	N	AEFBI	0.048918	0.08399	N	0.241177414207673	0.53206	3.490411	-0.0555314215728076	0.37251	2.178615	0.420669811402195	0.20289	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	4.43	0.52967	1.197000	0.31819	2.034000	0.30268	0.676000	0.76740	0.002000	0.15269	0.019000	0.20708	0.139000	0.19909	0.0:0.0:1.0:0.0	12.735	0.56589	804	0.43891	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	122.11	32	chr1	7933285	.	G	A	122.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.039;DP=675;ExcessHet=0.1072;FS=10.794;InbreedingCoeff=-0.0503;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=2.65;ReadPosRankSum=0.736;SOR=3.105	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:81:.:.:0,81,1215	19	0	2	0
chr1	7965334	7965334	C	T	exonic	PARK7	.	nonsynonymous SNV	PARK7:NM_001123377:exon3:c.C101T:p.T34I	Parkinson disease 7, autosomal recessive early-onset, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	794726	not_provided|Autosomal_recessive_early-onset_Parkinson_disease_7	MedGen:C3661900|MONDO:MONDO:0011658,MedGen:C1853445,OMIM:606324,Orphanet:2828	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.453	P	0.476	P	0.000	N	1.000	D	2.165	M	-0.8	T	-0.251	T	0.410	T	0.235	1.338	10.40	3.63	1.459	2.953	8.958	0.246	0.0413771469861	.	.	4.943e-05	0	0	0	0	0	0.0011	0.0003	3.88e-05	6	154602	rs772272696	3.763e-05	3.831e-05	2.587e-05	4.951e-05	0.0003	2.96e-05	2.656e-05	0.0002	0.0002	0	0	0	0	0	0.0002	1.529e-05	0.0001	0.0003	1.973e-05	1.97e-05	1.285e-05	2.692e-05	0.0006	5.24e-06	2.46e-06	0.0002	9.007e-05	0	0	0	0	0	0	0	0	0	0.0006	0.012	0.54683	D	0.062	0.53426	T	0.453	0.36131	P	0.476	0.46961	P	0.000009	0.62929	N	0.175344	0.999997	0.58761	D	1.66	0.42513	L	-0.8	0.73845	T	-4.09	0.74821	D	0.418	0.45803	-0.2505	0.76346	T	0.410	0.75880	T	10	0.35414952	0.52205	T	0.041377	0.59893	D	0.246	0.55340	0.572	0.69564	0.41767021734	0.41382	0.8276744113220157	0.82725	0.17338185284	0.19527	0.709249317646	0.68485	T	0.546008	0.84542	D	-0.276249	0.11069	T	-0.306628	0.44021	T	0.197370011526547	0.20270	T	0.792521	0.49094	T	0.5963514	0.72495	0.40220112	0.64709	0.5963514	0.72496	0.40220112	0.64709	-7.257	0.55889	T	0.2162952216051809	0.29093	0.233	0.50232	B	.;.;.;.;.;.	.;.;.;.;.;.	2.688246	0.35084	19.80	0.97580395404128706	0.34731	0.91714	0.54108	D	AEFBI	0.679799	0.64370	D	0.0942722688033897	0.46195	2.863699	0.0899678424005548	0.44043	2.693708	0.999979985192047	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.83	3.63	0.40741	3.164000	0.50470	2.646000	0.33784	0.549000	0.26987	0.994000	0.38300	0.993000	0.31925	0.067000	0.16453	0.0:0.8051:0.0:0.1949	8.958	0.34991	824	0.40336	DJ-1/PfpI;DJ-1/PfpI;DJ-1/PfpI;.;DJ-1/PfpI;DJ-1/PfpI	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2055.08	34	chr1	7965334	.	C	T	2055.08	.	AC=2;AF=0.048;AN=42;DP=779;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.62;SOR=1.010	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1170	20	1	0	0
chr1	8324374	8324374	C	G	exonic	SLC45A1	.	nonsynonymous SNV	SLC45A1:NM_001080397:exon2:c.C45G:p.F15L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.004	N	0.997	N	-0.11	N	2.42	T	-0.946	T	0.014	T	0.113	-0.147	3.282	1.25	0.366	0.626	6.209	0.029	0.00451458909695	.	.	1.72e-05	0	0	0	0	1.585e-05	0	6.099e-05	1.29e-05	2	154602	rs774770763	1.095e-05	1.094e-05	1.226e-05	9.634e-06	0.0002	6.49e-06	5.25e-06	4.55e-06	3.32e-06	0	2.236e-05	3.828e-05	0	0	0.0002	8.993e-06	1.656e-05	2.319e-05	5.918e-05	5.91e-05	5.142e-05	6.731e-05	0.0001	3.079e-05	2.212e-05	6.806e-05	5.089e-05	0	0	0	0	0	0	0	0.0001	0	0	0.709	0.04056	T	0.733	0.05109	T	.	.	.	.	.	.	0.004083	0.34125	N	0.319877	0.996534	0.22984	N	.	.	.	2.42	0.15376	T	-0.38	0.13418	N	0.071	0.10198	-0.9455	0.41731	T	0.014	0.05705	T	10	0.072831094	0.10926	T	0.004515	0.11094	T	0.029	0.06676	0.17	0.07536	0.377274123778	0.37341	0.33844762929300637	0.33757	0.483180356244	0.47271	0.426753640175	0.28765	T	.	.	.	-0.427773	0.01529	T	-0.670715	0.07563	T	0.0229944693608085	0.01023	T	0.532847	0.17735	T	0.073323295	0.16377	0.059435766	0.11153	0.073323295	0.16377	0.059435766	0.11153	-1.696	0.02218	T	.	.	0.241	0.48230	B	.;.	.;.	1.006232	0.13851	10.40	0.74381429226584095	0.10674	0.59651	0.30974	D	AEFBI	0.201205	0.32789	N	-0.892171566713766	0.11027	0.5300111	-0.768062520184728	0.15279	0.8027955	0.826499655814357	0.24616	0.553676	0.25195	0	0.610034	0.51514	0	0.603688	0.36954	0	0.620846	0.47308	0	.	.	4.32	1.25	0.20475	1.364000	0.33775	0.367000	0.17636	0.549000	0.26987	1.000000	0.71638	0.679000	0.26109	0.241000	0.23027	0.0:0.5085:0.3127:0.1789	6.209	0.19831	909	0.22467	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1187.98	37	chr1	8324374	.	C	G	1187.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.000e-03;DP=803;ExcessHet=0.0000;FS=1.715;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=-8.100e-01;SOR=0.487	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1115	20	0	1	0
chr1	8359796	8359796	-	CTCCCGCTCCCGCTCCTTCTCCTTCTCCTT	exonic	RERE	.	nonframeshift insertion	RERE:NM_001042682:exon9:c.1923_1924insAAGGAGAAGGAGAAGGAGCGGGAGCGGGAG:p.E641_R642insKEKEKERERE	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.142e-06	4.112e-06	4.124e-06	4.161e-06	5.409e-06	1.49e-06	9.8e-07	1.95e-06	1.28e-06	0	0	0	0	0	0	5.409e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1594.94	34	chr1	8359796	.	G	GCTCCCGCTCCCGCTCCTTCTCCTTCTCCTT	1594.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=894;ExcessHet=0.0000;FS=9.059;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.24;ReadPosRankSum=-2.534e+00;SOR=1.594	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1161	20	0	1	0
chr1	8359809	8359814	CTCCTT	-	exonic	RERE	.	nonframeshift deletion	RERE:NM_001042682:exon9:c.1906_1911del:p.K636_E637del	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, Autosomal dominant	.	386	1128	5	1	2	9	0.00309324	.	.	719101	Neurodevelopmental_disorder_with_or_without_anomalies_of_the_brain,_eye,_or_heart|not_provided|RERE-related_disorder	MONDO:MONDO:0014857,MedGen:C4310772,OMIM:616975,Orphanet:494344|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0221	.	0.0040	0.0085	0.0059	0.0070	0.0006	0.0034	0.0047	0.0023	0.0011526	30	26028	rs147985313	0.0038	0.0038	0.0039	0.0038	0.0077	0.0038	0.0037	0.0070	0.0067	0.0068	0.0051	0.0025	0.0077	0.0010	0.0031	0.0039	0.0033	0.0023	0.0041	0.0041	0.0045	0.0037	0.0065	0.0038	0.0037	0.0058	0.0056	0.0065	0	0.0039	0.0009	0.0058	0.0003	0	0.0034	0.0066	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2200.94	34	chr1	8359808	.	GCTCCTT	G	2200.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.920e+00;DP=870;ExcessHet=0.0000;FS=0.699;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.48;ReadPosRankSum=-8.120e-01;SOR=0.593	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1161	20	0	1	0
chr1	8360503	8360503	C	T	exonic	RERE	.	nonsynonymous SNV	RERE:NM_001042682:exon8:c.G1342A:p.A448T	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, Autosomal dominant	.	441	1066	14	1	0	16	0.00744879	.	.	1686921	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.41	T	0.989	D	0.751	P	.	.	1.000	D	1.445	L	0.86	T	-0.971	T	0.126	T	0.417	2.496	14.31	4.4	1.214	5.210	14.010	0.206	.	0.0044	0.00259585	0.0145	0.0006	0.0074	0	0.0148	0.0225	0.0139	0.0029	0.0033182	513	154602	rs4990444	0.0072	0.0070	0.0072	0.0072	0.0095	0.0071	0.0070	0.0080	0.0079	0.0011	0.0049	0.0054	0	0.0044	0.0095	0.0082	0.0070	0.0013	0.0072	0.0067	0.0077	0.0067	0.0120	0.0068	0.0066	0.0101	0.0094	0.0013	0.0402	0.0120	0.0070	0	0.0041	0.0137	0.0099	0.0080	0.0031	0.002	0.72154	D	0.356	0.23638	T	0.95	0.62824	P	0.494	0.56062	P	.	.	.	.	0.999812	0.81001	D	1.69	0.43327	L	0.85	0.47130	T	-0.78	0.28497	N	0.495	0.56576	-0.9712	0.36946	T	0.126	0.43257	T	9	0.007662475	0.00174	T	.	.	.	0.206	0.49396	.	.	0.586259384218	0.58299	0.12175989248457637	0.12102	0.344135329823	0.36337	0.651884317398	0.60253	T	0.108818	0.42216	T	-0.392285	0.02600	T	-0.325879	0.41925	T	0.0612193091960238	0.07360	T	0.867413	0.58316	D	0.18164605	0.39346	0.25226608	0.50853	0.17506939	0.38345	0.25226608	0.50852	-4.068	0.26286	T	0.2941586007636017	0.39101	0.085	0.12797	B	.;.;.;.	.;.;.;.	4.188149	0.63098	24.5	0.99595937240788979	0.73925	0.88491	0.48443	D	AEFBCI	0.430456	0.49316	N	0.00313759307228067	0.41997	2.522291	-0.017784574903612	0.38912	2.299377	0.999999494485025	0.74766	0.695654	0.57023	0	0.577304	0.33150	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.32	4.4	0.52402	5.281000	0.65416	4.168000	0.42254	0.597000	0.34315	1.000000	0.71638	0.999000	0.35428	0.006000	0.07323	0.1527:0.8472:0.0:0.0	14.010	0.64005	861	0.33516	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1578.08	42	chr1	8360503	.	C	T	1578.08	.	AC=2;AF=0.048;AN=42;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=34.31;SOR=2.985	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1450	20	1	0	0
chr1	8861418	8861418	T	C	exonic	ENO1	.	nonsynonymous SNV	ENO1:NM_001201483:exon11:c.A968G:p.E323G	Enolase deficiency (1)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.841	P	0.882	P	0.000	D	1.000	D	3.26	M	0.4	T	-0.065	T	0.406	T	0.753	4.983	29.2	5.53	2.109	7.917	14.856	0.510	0.0507489932897	.	.	3.3e-05	0	0	0.0001	0	0	0.0011	0.0001	2.59e-05	4	154602	rs776586770	3.831e-05	3.831e-05	1.361e-05	6.325e-05	0.0005	3.025e-05	2.719e-05	0.0004	0.0003	0	0	0	0.0003	0	0	0	8.28e-05	0.0005	2.631e-05	2.627e-05	1.286e-05	4.041e-05	0.0006	8.15e-06	5.15e-06	0.0002	9.003e-05	0	0	0	0	0.0002	0	0	0	0	0.0006	0.001	0.78490	D	0.004	0.74150	D	0.748	0.43202	P	0.647	0.52336	P	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	3.95	0.96445	H	0.4	0.57261	T	-4.2	0.75695	D	0.772	0.76946	-0.0645	0.80898	T	0.406	0.75572	T	10	0.656811	0.69921	D	0.050749	0.64371	D	0.510	0.78971	0.59	0.71874	0.907688085312	0.90676	0.803174956062826	0.80271	0.924845224075	0.71602	0.668873071671	0.62677	T	0.613925	0.87804	D	-0.011604	0.50042	T	0.0501028	0.73591	D	0.96230012178421	0.66327	D	0.955504	0.83071	D	0.9106582	0.92356	0.81653106	0.89317	0.9106582	0.92357	0.81653106	0.89318	-9.261	0.69362	D	.	.	0.384	0.60057	A	.;.;.	.;.;.	5.288512	0.88792	29.7	0.99904551710821476	0.97576	0.99539	0.97221	D	AEFBHCI	0.948709	0.96061	D	0.777867292994301	0.84704	8.36262	0.751824287014711	0.86291	8.843025	0.999999999999978	0.74766	0.722319	0.85440	0	0.697927	0.68747	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.53	5.53	0.82530	7.895000	0.85911	7.782000	0.68692	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	14.856	0.69969	712	0.56465	Enolase, C-terminal TIM barrel domain|Enolase, C-terminal TIM barrel domain;Enolase, C-terminal TIM barrel domain|Enolase, C-terminal TIM barrel domain;Enolase, C-terminal TIM barrel domain|Enolase, C-terminal TIM barrel domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	634.98	36	chr1	8861418	.	T	C	634.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.300e-02;DP=762;ExcessHet=0.0000;FS=0.937;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.77;ReadPosRankSum=0.999;SOR=0.570	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1132	20	0	1	0
chr1	9007331	9007331	C	T	exonic	SLC2A7	.	nonsynonymous SNV	SLC2A7:NM_207420:exon10:c.G1171A:p.A391T,	.	.	.	.	.	.	.	.	.	.	.	3332557	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.26	T	0.812	P	0.418	B	0.254	U	1.000	N	1.83	L	0.28	T	-0.983	T	0.143	T	0.087	1.735	11.76	0.676	-0.047	0.106	0.728	0.109	0.0129575528599	7.7e-05	0.000199681	5.783e-05	9.673e-05	0.0003	0.0002	0	0	0	0	6.47e-05	10	154602	rs371136367	4.72e-05	4.72e-05	4.492e-05	4.95e-05	0.0003	3.794e-05	3.476e-05	0.0001	0.0001	0.0001	0.0002	0	0.0003	3.744e-05	0.0002	3.507e-05	1.656e-05	2.319e-05	6.565e-05	6.562e-05	8.994e-05	4.027e-05	0.0004	3.514e-05	2.614e-05	6.83e-05	4.29e-05	0.0001	0	6.531e-05	0	0.0004	0	0	1.47e-05	0	0	0.161	0.23631	T	0.171	0.30339	T	0.812	0.45431	P	0.418	0.45020	B	0.253742	0.15455	U	0.554792	1	0.08975	N	2.29	0.65257	M	0.28	0.59037	T	-2.1	0.47852	N	0.281	0.31814	-0.9830	0.34305	T	0.143	0.46404	T	10	0.066818744	0.09221	T	0.012958	0.31981	T	0.109	0.30843	.	.	0.349204839081	0.34528	0.47474260077498426	0.47393	0.0854793780599	0.09655	0.274280190468	0.06707	T	0.11089	0.42595	T	-0.412449	0.01915	T	-0.510221	0.21292	T	0.0856035975884319	0.10688	T	0.187281	0.01953	T	0.16223036	0.36286	0.19069505	0.42486	0.16223036	0.36286	0.19069505	0.42485	-5.466	0.41549	T	.	.	0.098	0.16319	B	.	.	0.910945	0.12853	9.366	0.98395393246390717	0.41010	0.06036	0.12004	N	AEFDBI	0.054345	0.09874	N	-0.453936056542211	0.23607	1.268891	-0.533571723942291	0.21243	1.148297	0.0980620037477851	0.16295	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.8	0.676	0.17125	0.036000	0.13706	-11.058000	0.00639	-0.233000	0.07663	0.039000	0.20931	0.000000	0.08366	0.842000	0.39752	0.3506:0.2827:0.197:0.1697	0.728	0.00891	911	0.21964	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1119.98	36	chr1	9007331	.	C	T	1119.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.140e-01;DP=838;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.06;ReadPosRankSum=1.38;SOR=0.643	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1244	20	0	1	0
chr1	9015162	9015162	G	A	exonic	SLC2A7	.	nonsynonymous SNV	SLC2A7:NM_207420:exon6:c.C670T:p.R224C,	.	.	410	1102	9	1	0	11	0.00496614	.	.	2805661	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	0.994	D	3.99	H	-1.32	T	0.504	D	0.680	D	0.835	2.517	14.38	0.751	0.335	0.767	11.737	0.692	.	0.0055	0.00299521	0.0073	0.0014	0.0012	0	0.0271	0.0099	0.0041	0.0020	0.0061189	946	154602	rs35776221	0.0073	0.0073	0.0074	0.0071	0.0117	0.0071	0.0071	0.0094	0.0086	0.0016	0.0010	0.0003	0	0.0159	0.0117	0.0082	0.0054	0.0018	0.0055	0.0055	0.0050	0.0060	0.0077	0.0052	0.0051	0.0072	0.0069	0.0013	0.0154	0.0018	0.0003	0	0.0186	0.0034	0.0077	0.0052	0.0017	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.993909	0.42093	D	3.685	0.94485	H	-1.32	0.79761	T	-7.58	0.95276	D	0.665	0.67391	0.504	0.90607	D	0.680	0.88940	D	10	0.019767672	0.00446	T	.	.	.	0.692	0.88820	.	.	0.475034548194	0.47131	0.6635891204751514	0.66295	0.430975893944	0.43319	0.42778134346	0.28905	T	0.494518	0.81763	T	0.00615206	0.52499	T	0.242175	0.85253	D	0.0724600936524277	0.08993	T	0.935906	0.76011	D	0.93406415	0.94645	0.8137064	0.89136	0.93406415	0.94645	0.8137064	0.89137	-8.721	0.65883	D	.	.	0.336	0.55617	B	.	.	3.845254	0.55667	23.6	0.99817195681623117	0.90061	0.73502	0.35953	D	AEFDBI	0.346592	0.44136	N	0.250270834194908	0.53653	3.533174	-0.020040016026181	0.38810	2.291965	0.116909770398413	0.16789	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.32	0.751	0.17541	0.580000	0.23505	-0.190000	0.11047	0.618000	0.50648	0.071000	0.22100	0.000000	0.08366	0.979000	0.57723	0.0:0.0:0.4281:0.5719	11.737	0.51036	917	0.20147	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	935.98	37	chr1	9015162	.	G	A	935.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.51;DP=771;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.76;ReadPosRankSum=-1.309e+00;SOR=0.804	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1119	20	0	1	0
chr1	9263899	9263899	G	A	exonic	H6PD	.	nonsynonymous SNV	H6PD:NM_001282587:exon5:c.G1439A:p.R480Q	Cortisone reductase deficiency 1, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.293	B	0.012	B	0.004	N	0.601	D	1.15	L	-4.79	D	0.754	D	0.817	D	0.129	1.015	9.147	3.65	1.339	1.618	8.889	0.294	0.0775704964753	7.7e-05	0.000599042	0.0006	0.0002	0.0003	0.0012	0.0003	0.0003	0.0022	0.0018	0.0005175	80	154602	rs113495544	0.0005	0.0005	0.0005	0.0005	0.0022	0.0005	0.0005	0.0019	0.0018	0.0002	6.708e-05	0	0.0009	0.0003	0.0005	0.0004	0.0006	0.0022	0.0003	0.0003	0.0002	0.0004	0.0021	0.0002	0.0002	0.0011	0.0009	9.617e-05	0	0.0001	0	0.0012	9.409e-05	0	0.0003	0.0005	0.0021	0.137	0.25979	T	0.329	0.18617	T	0.293	0.32367	B	0.012	0.16012	B	0.004350	0.33837	N	0.309965	0.60101	0.32538	D	1.88	0.49984	L	-4.79	0.98155	D	-0.43	0.14390	N	0.121	0.11340	0.754	0.93837	D	0.817	0.93837	D	10	0.023808092	0.00634	T	0.07757	0.72802	D	0.294	0.61388	.	.	0.930398057052	0.92968	0.6697532558374796	0.66913	0.121683234402	0.13713	0.274798035622	0.06777	T	0.410571	0.76527	T	-0.272951	0.11430	T	-0.171328	0.57322	T	0.0123805072382815	0.00202	T	0.885211	0.61002	D	0.049661968	0.08852	0.048384745	0.07176	0.042618237	0.06496	0.045431316	0.06112	-3.551	0.17153	T	0.14569753126488172	0.16748	0.065	0.02038	B	.;.	.;.	2.192358	0.27955	17.64	0.98839003859135965	0.47085	0.81664	0.41023	D	AEFDBI	0.141296	0.26343	N	-0.3253260754567	0.28189	1.552782	-0.241289407841994	0.30073	1.690122	0.997636835498697	0.35843	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	3.65	0.40985	1.664000	0.37055	1.890000	0.29511	0.676000	0.76740	0.967000	0.34061	0.975000	0.29991	0.746000	0.35646	0.2291:0.0:0.7709:0.0	8.889	0.34585	894	0.26265	Glucose-6-phosphate dehydrogenase, C-terminal;Glucose-6-phosphate dehydrogenase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2143.98	37	chr1	9263899	.	G	A	2143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.492;DP=1234;ExcessHet=0.0000;FS=0.551;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.11;ReadPosRankSum=-2.582e+00;SOR=0.673	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1236	20	0	1	0
chr1	9735908	9735908	C	T	exonic	CLSTN1	.	nonsynonymous SNV	CLSTN1:NM_001302883:exon11:c.G1654A:p.E552K	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.983	D	0.563	P	0.000	D	1.000	D	1.735	L	1.38	T	-1.018	T	0.132	T	0.344	3.085	16.30	5.77	2.724	4.859	19.998	0.139	0.0209533776782	0.0003	.	0.0003	9.628e-05	8.645e-05	0	0	0.0004	0	0.0005	0.0002393	37	154602	rs201640412	0.0002	0.0002	0.0001	0.0002	0.0023	0.0001	0.0001	0.0013	0.0011	0	8.944e-05	0.0032	0	0	0.0023	5.755e-05	0.0002	0.0006	0.0002	0.0002	0.0001	0.0003	0.0010	0.0002	0.0001	0.0004	0.0003	2.406e-05	0	0.0003	0.0049	0	0	0	8.82e-05	0	0.0010	0.034	0.44029	D	0.065	0.44702	T	0.971	0.60381	D	0.359	0.49647	B	0.000017	0.62929	D	0.152343	0.99999	0.58761	D	1.845	0.48678	L	1.38	0.34050	T	-2.46	0.55339	N	0.351	0.39254	-1.0177	0.24463	T	0.132	0.44425	T	10	0.011742651	0.00255	T	0.020953	0.43640	T	0.139	0.37390	.	.	0.362933182269	0.35899	0.606083415066718	0.60539	0.308157786748	0.33120	0.356569766998	0.18885	T	0.274853	0.64737	T	-0.338137	0.05518	T	-0.374055	0.36415	T	0.0625571763639411	0.07565	T	0.819018	0.47665	T	0.27921283	0.50972	0.21769476	0.46444	0.27921283	0.50972	0.21769476	0.46443	-6.069	0.46853	T	.	.	0.081	0.09627	B	.;.;.	.;.;.	3.217154	0.43821	21.8	0.99838421666627597	0.91886	0.98062	0.79276	D	AEFDBCI	0.619557	0.60495	D	0.237506826046717	0.53026	3.473315	0.216267102189253	0.50749	3.26375	0.999999991845207	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.77	5.77	0.91077	4.936000	0.63206	3.341000	0.37707	0.599000	0.40250	1.000000	0.71638	0.993000	0.31925	0.682000	0.33600	0.0:1.0:0.0:0.0	19.998	0.97395	819	0.41190	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2759.98	35	chr1	9735908	.	C	T	2759.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=979;ExcessHet=0.0000;FS=1.078;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.60;ReadPosRankSum=1.07;SOR=0.589	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr1	9931966	9931966	C	G	exonic	LZIC	.	nonsynonymous SNV	LZIC:NM_001316973:exon7:c.G439C:p.A147P	.	.	436	1070	15	1	0	17	0.00788132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.001	B	0.149	N	0.998	N	-1.3	N	0.98	T	-1.036	T	0.031	T	0.149	0.031	4.176	3.44	2.700	0.170	10.651	0.118	0.00193986540094	0.0010	0.000998403	0.0013	0.0002	0.0012	0	0.0002	0.0020	0	0.0007	0.0013066	202	154602	rs146375448	0.0014	0.0014	0.0014	0.0014	0.0313	0.0013	0.0013	0.0275	0.0261	0.0011	0.0013	0.0067	0	5.621e-05	0.0313	0.0012	0.0026	0.0010	0.0012	0.0012	0.0012	0.0013	0.0016	0.0011	0.0010	0.0012	0.0011	0.0005	0	0.0016	0.0060	0	9.434e-05	0.0272	0.0015	0.0033	0.0006	1.0	0.00964	T	0.693	0.05863	T	0.0	0.02946	B	0.0	0.01387	B	0.148607	0.18043	N	0.625117	0.997886	0.22461	N	-0.55	0.02420	N	0.92	0.44461	T	3.05	0.00134	N	0.21	0.23380	-1.0363	0.18450	T	0.031	0.13374	T	9	0.0035844147	0.00065	T	0.00194	0.03456	T	0.118	0.32913	.	.	0.211220785272	0.20719	0.33437238083531406	0.33350	0.313330889127	0.33626	0.393143922091	0.24111	T	0.010301	0.09311	T	-0.573253	0.00212	T	-0.615229	0.11565	T	0.0124018441885884	0.00203	T	0.767723	0.39623	T	0.082922034	0.19124	0.15248495	0.35874	0.082922034	0.19124	0.15248495	0.35873	-3.587	0.17669	T	.	.	0.082	0.08560	B	.;.;.;.	.;.;.;.	1.838094	0.23356	15.98	0.34679313956136959	0.02135	0.43629	0.27140	N	AEFDBI	0.179674	0.30697	N	-0.52413132820575	0.21302	1.129474	-0.285736685138185	0.28568	1.593844	0.254789281639857	0.18721	0.732398	0.92422	0	0.644132	0.57912	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.42	3.44	0.38486	0.202000	0.17094	0.364000	0.17606	0.596000	0.33519	0.454000	0.26597	0.033000	0.21346	0.998000	0.85391	0.1167:0.6093:0.274:0.0	10.651	0.44840	751	0.51694	Beta-catenin-interacting ICAT domain;Beta-catenin-interacting ICAT domain;Beta-catenin-interacting ICAT domain;Beta-catenin-interacting ICAT domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1049.98	40	chr1	9931966	.	C	G	1049.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.680e-01;DP=778;ExcessHet=0.0000;FS=0.883;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.64;ReadPosRankSum=0.716;SOR=0.859	GT:AD:DP:GQ:PL	0/1:33,44:77:99:1064,0,743	20	0	1	0
chr1	10149228	10149228	C	T	exonic	UBE4B	.	nonsynonymous SNV	UBE4B:NM_006048:exon19:c.C2249T:p.A750V	.	.	.	.	.	.	.	.	.	.	.	3491093	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.44	T	0.993	D	0.588	P	0.000	D	1.000	D	1.4	L	1.02	T	-1.058	T	0.137	T	0.614	4.565	24.7	5.92	2.810	7.487	20.33	0.180	0.0162647818984	.	.	3.301e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs770338844	1.371e-05	1.642e-05	6.821e-06	2.068e-05	0.0002	8.96e-06	7.28e-06	8.986e-05	7.131e-05	0	0	0	0	0	0	4.5e-06	3.322e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.073	0.46632	T	0.023	0.65571	B	0.008	0.50402	B	0.000000	0.84330	D	0.047423	1	0.81001	D	1.21	0.30464	L	1.02	0.40749	T	-3.14	0.64246	D	0.555	0.59393	-1.0585	0.12134	T	0.137	0.45299	T	10	0.2749036	0.45046	T	0.016265	0.37444	T	0.180	0.45073	0.644	0.78117	0.250512400709	0.24649	0.6003334435658738	0.59964	1.46357261784	0.86400	0.561512112617	0.47481	T	0.398721	0.75675	T	-0.171217	0.25050	T	-0.21929	0.52805	T	0.840295970439911	0.49351	D	0.973803	0.91380	D	0.32284716	0.54879	0.32273307	0.58210	0.32284716	0.54879	0.32273307	0.58210	-5.023	0.37590	T	.	.	0.329	0.55180	B	.;.	.;.	5.090607	0.85006	28.5	0.99841570171178107	0.92229	0.98221	0.80666	D	AEFBI	0.885401	0.81589	D	0.269483307935106	0.54608	3.626056	0.435573614086443	0.63795	4.62061	0.999999999990639	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.92	5.92	0.95557	7.568000	0.81546	7.603000	0.61629	0.547000	0.25779	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	20.33	0.98713	505	0.75648	.;Ubiquitin conjugation factor E4, core	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1772.98	33	chr1	10149228	.	C	T	1772.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.866;DP=843;ExcessHet=0.0000;FS=6.363;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=0.248;SOR=0.564	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1298	20	0	1	0
chr1	10321829	10321829	A	G	exonic	KIF1B	.	nonsynonymous SNV	KIF1B:NM_015074:exon22:c.A2192G:p.N731S	Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	238114	not_provided|Charcot-Marie-Tooth_disease|Charcot-Marie-Tooth_disease_type_2|not_specified|Neuroblastoma	MedGen:C3661900|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746|MedGen:CN169374|Human_Phenotype_Ontology:HP:0003006,Human_Phenotype_Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819,Orphanet:635	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.08	T	0.997	D	0.969	D	0.000	N	1.000	D	2.29	M	-1.25	T	-0.490	T	0.204	T	0.034	3.622	18.43	-1.04	-0.370	5.008	5.590	0.373	.	0.0002	0.00778754	0.0047	0.0002	0.0002	0.0452	0.0109	0.0013	0.0077	0.0002	0.0041009	634	154602	rs117525287	0.0019	0.0019	0.0020	0.0019	0.0430	0.0019	0.0019	0.0413	0.0406	0.0001	0.0002	0	0.0430	0.0122	0.0007	0.0002	0.0032	0.0004	0.0027	0.0027	0.0021	0.0034	0.0425	0.0025	0.0024	0.0379	0.0361	0.0003	0	0.0004	0	0.0425	0.0125	0	0.0005	0.0019	0.0010	0.01	0.59928	D	0.008	0.69154	D	0.974	0.70673	D	0.969	0.72001	D	0.000007	0.62929	N	0.142496	0.999848	0.52396	D	2.8	0.81625	M	-1.25	0.79072	T	-4.12	0.75854	D	0.377	0.41853	-0.4905	0.68991	T	0.204	0.56128	T	10	0.008233219	0.00187	T	.	.	.	0.373	0.69188	.	.	0.85986107607	0.85850	0.8545034573972254	0.85413	1.09154679072	0.77449	0.731094121933	0.71666	T	0.82017	0.95594	D	-0.451757	0.01103	T	-0.388113	0.34772	T	0.0493439212441444	0.05384	T	0.887111	0.61653	D	0.16564092	0.36849	0.16185565	0.37626	0.14912535	0.34012	0.16083634	0.37440	-12.573	0.87835	D	.	.	0.518	0.70357	A	.;.;.;.;.	.;.;.;.;.	3.126864	0.42236	21.5	0.99455562274353237	0.65530	0.94524	0.61445	D	AEFBI	0.304397	0.41211	N	0.0547612606146839	0.44363	2.711658	-0.068092361401802	0.36717	2.140418	0.00249266329175324	0.09478	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.47	-1.04	0.09555	5.040000	0.63987	4.684000	0.44334	-0.042000	0.17409	1.000000	0.71638	0.999000	0.35428	0.985000	0.61073	0.6303:0.0:0.2568:0.1128	5.590	0.16579	230	0.91032	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1237.98	33	chr1	10321829	.	A	G	1237.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.175;DP=790;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=0.506;SOR=0.766	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1177	20	0	1	0
chr1	10326244	10326244	G	C	exonic	KIF1B	.	nonsynonymous SNV	KIF1B:NM_015074:exon25:c.G2671C:p.E891Q	Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.989	D	0.969	D	0.000	D	1.000	D	1.355	L	-0.82	T	-0.170	T	0.498	T	0.639	3.746	19.02	5.6	2.633	9.476	19.620	0.290	0.0482880192528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.37326	T	0.212	0.26549	T	0.989	0.62824	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.765	0.45800	L	-0.82	0.75001	T	-1.39	0.36787	N	0.734	0.75009	-0.1696	0.78438	T	0.498	0.81014	T	10	0.6018709	0.66958	D	0.048288	0.63305	D	0.290	0.60924	0.219	0.14078	0.749556767029	0.74729	0.6982153262634863	0.69762	1.23630627734	0.81476	0.814065039158	0.84115	D	0.345935	0.71426	T	0.119299	0.66301	D	-0.0664114	0.65882	T	0.84802782535553	0.49996	D	0.984102	0.94582	D	0.2858203	0.51601	0.27822828	0.53781	0.2858203	0.51601	0.27822828	0.53780	-10.724	0.78968	D	.	.	0.374	0.62311	A	.;.;.;.;.	.;.;.;.;.	5.279577	0.88650	29.7	0.99699751426161221	0.80522	0.99370	0.95141	D	AEFGBI	0.891753	0.82802	D	0.588017507858634	0.72425	5.803883	0.669916851634812	0.80102	7.224664	0.999999999999494	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	5.6	5.6	0.84997	9.602000	0.97623	11.794000	0.96459	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.620	0.95646	229	0.91079	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3095	11777.12	34	chr1	10326244	.	G	C	11777.12	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-6.149e+00;DP=3631;ExcessHet=11.8493;FS=235.795;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=60.00;MQRankSum=0.00;QD=4.35;ReadPosRankSum=0.590;SOR=13.423	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,65:212:99:0|1:10326244_G_C:1466,0,5156:10326244	8	0	13	0
chr1	10461512	10461512	C	T	exonic	DFFA	.	nonsynonymous SNV	DFFA:NM_004401:exon6:c.G974A:p.R325Q,	.	.	430	1090	2	0	0	2	0.00091659	.	.	706524	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.206	B	0.022	B	0.031	N	1.000	N	2.28	M	.	.	-0.984	T	0.067	T	0.158	3.593	18.30	2.42	0.249	2.000	9.322	0.178	.	0.0003	0.00559105	0.0028	0.0004	0.0015	0.0335	0	6.247e-05	0.0035	0.0010	0.0025549	395	154602	rs140269107	0.0014	0.0014	0.0014	0.0015	0.0426	0.0014	0.0014	0.0409	0.0403	0.0007	0.0014	0	0.0426	0	0.0005	5.486e-05	0.0029	0.0011	0.0017	0.0017	0.0016	0.0018	0.0320	0.0015	0.0014	0.0281	0.0265	0.0008	0	0.0019	0	0.0320	0	0	8.822e-05	0.0057	0.0019	0.0	0.91255	D	0.0	0.92824	D	0.206	0.29860	B	0.022	0.19653	B	0.031240	0.01733	N	2.302060	1	0.08975	N	2.395	0.69210	M	.	.	.	-1.19	0.30346	N	0.096	0.07673	-0.9838	0.34116	T	0.067	0.27640	T	9	0.0036945045	0.00068	T	.	.	.	0.178	0.44724	.	.	0.272639205421	0.26888	0.2001635971352172	0.19933	0.399156638136	0.40951	0.250007003546	0.03768	T	0.051237	0.28823	T	-0.446513	0.01184	T	-0.37014	0.36871	T	0.0793014743208084	0.09897	T	0.649735	0.26051	T	0.10762776	0.25449	0.12082042	0.29156	0.10762776	0.25449	0.12082042	0.29155	-5.444	0.41340	T	.	.	0.103	0.18580	B	.	.	2.769186	0.36341	20.2	0.99585259835191531	0.73277	0.79534	0.39430	D	AEFBI	0.099339	0.19998	N	-0.574104841890009	0.19733	1.035144	-0.598164920486375	0.19541	1.048877	0.111165312747871	0.16652	0.744818	0.98587	0	0.702456	0.74545	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.28	2.42	0.28720	2.316000	0.43421	1.428000	0.26422	-0.237000	0.07570	0.996000	0.39380	0.656000	0.25990	0.496000	0.28927	0.0:0.7712:0.0:0.2288	9.322	0.37130	344	0.85734	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1055.98	37	chr1	10461512	.	C	T	1055.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.361;DP=784;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.08;ReadPosRankSum=0.506;SOR=0.709	GT:AD:DP:GQ:PL	0/1:34,41:75:99:1070,0,880	20	0	1	0
chr1	10469269	10469269	A	G	exonic	DFFA	.	nonsynonymous SNV	DFFA:NM_004401:exon2:c.T206C:p.I69T	.	.	430	1060	32	0	0	32	0.0148699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	1.0	D	1.0	D	0.000	D	1.000	D	1.52	L	.	.	-0.509	T	0.282	T	0.865	3.927	19.98	5.49	2.076	7.677	15.613	0.598	0.0124785387908	0.0033	0.00219649	0.0034	0.0005	0.0025	0	0.0008	0.0047	0.0077	0.0031	0.0034734	537	154602	rs138842024	0.0045	0.0045	0.0046	0.0045	0.0151	0.0044	0.0044	0.0125	0.0116	0.0007	0.0031	0.0015	2.519e-05	0.0005	0.0151	0.0052	0.0041	0.0035	0.0032	0.0032	0.0034	0.0031	0.0059	0.0030	0.0029	0.0049	0.0045	0.0007	0.0022	0.0059	0.0009	0	0.0005	0.0102	0.0049	0.0052	0.0031	0.064	0.36509	T	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.935	0.51832	L	.	.	.	-2.22	0.51478	N	0.697	0.70175	-0.5091	0.68319	T	0.282	0.65399	T	9	0.016964287	0.00360	T	0.012479	0.31090	T	0.598	0.84074	.	.	0.698768432235	0.69616	0.42236400297861965	0.42153	1.02612671619	0.75280	0.56750524044	0.48325	T	0.231903	0.59834	T	0.0125401	0.53371	T	0.247571	0.85504	D	0.0113790384437481	0.00170	T	0.740126	0.35895	T	0.6165737	0.73580	0.4538176	0.68238	0.6165737	0.73581	0.4538176	0.68238	-7.612	0.58394	D	.	.	0.530	0.65937	A	.;.	.;.	4.307904	0.65834	24.9	0.99801278914353586	0.88639	0.99115	0.91446	D	AEFGBI	0.899852	0.84471	D	0.678280936748503	0.78211	6.825754	0.687543685434773	0.81434	7.52536	0.999999227905108	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.49	5.49	0.81022	6.424000	0.73282	9.308000	0.79934	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.613	0.76492	381	0.83684	CIDE-N domain|CIDE-N domain|CIDE-N domain;CIDE-N domain|CIDE-N domain|CIDE-N domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1890.98	42	chr1	10469269	.	A	G	1890.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.046e+00;DP=930;ExcessHet=0.0000;FS=9.133;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=0.239;SOR=0.291	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1297	20	0	1	0
chr1	10638964	10638964	G	T	exonic	CASZ1	.	nonsynonymous SNV	CASZ1:NM_001079843:exon21:c.C5258A:p.P1753H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.688	P	0.371	B	.	.	1.000	N	0	N	.	.	-1.057	T	0.042	T	0.194	1.782	11.92	2.07	0.357	1.275	6.741	0.077	0.514545501512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.989e-06	5.472e-06	6.678e-06	5.186e-06	0.0018	1.75e-06	1.28e-06	0.0005	0.0003	0	0	0	0	0	0.0018	0	7.308e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.688	0.41582	P	0.371	0.43568	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	-0.9	0.24244	N	0.245	0.27673	-1.0571	0.12491	T	0.042	0.18243	T	8	0.18106663	0.33320	T	0.514546	0.95353	D	0.077	0.22490	0.122	0.02867	0.043077524339	0.03247	0.09075409165664526	0.09008	.	.	0.758153796196	0.75655	T	0.151567	0.49156	T	-0.0883938	0.38342	T	-0.364748	0.37502	T	0.44678397303069	0.30678	T	0.276972	0.04759	T	0.19092199	0.40698	0.23980162	0.49339	0.19092199	0.40698	0.23980162	0.49337	-7.473	0.57420	T	.	.	0.247	0.48198	B	.	.	3.110847	0.41958	21.4	0.98349357271836524	0.40527	0.07247	0.13271	N	AEFDBCI	0.042263	0.06534	N	-0.470887896698116	0.23038	1.23437	-0.505273714431812	0.22009	1.193385	0.99996385316514	0.48965	0.403107	0.06075	0	0.578056	0.33634	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	3.01	2.07	0.26004	1.062000	0.30164	4.107000	0.41897	0.404000	0.20573	0.009000	0.18154	1.000000	0.68203	0.691000	0.33868	0.3311:0.0:0.6689:0.0	6.741	0.22623	743	0.52768	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03846	32.57	80	chr1	10638964	.	G	T	32.57	.	AC=1;AF=0.038;AN=26;BaseQRankSum=-9.670e-01;DP=80;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1198;MLEAC=2;MLEAF=0.077;MQ=60.00;MQRankSum=0.00;QD=10.86;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	./.	12	0	1	8
chr1	10639087	10639098	TCGTCGTCGTCC	-	exonic	CASZ1	.	nonframeshift deletion	CASZ1:NM_001079843:exon21:c.5124_5135del:p.E1708_D1711del,	.	.	549	931	4	1	37	43	0.00321199	.	.	695942	CASZ1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0055	.	0.0073	0.0067	0.0030	0.0057	0.0025	0.0096	0.0065	0.0059	0.0002689	7	26028	rs770782033	0.0070	0.0056	0.0072	0.0068	0.0076	0.0069	0.0068	0.0074	0.0073	0.0018	0.0010	0.0007	0.0035	0.0018	0.0032	0.0076	0.0058	0.0066	0.0058	0.0057	0.0062	0.0054	0.0082	0.0055	0.0053	0.0076	0.0074	0.0023	0.0011	0.0064	0.0016	0.0058	0.0016	0.0165	0.0082	0.0097	0.0078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	307.44	13	chr1	10639086	.	GTCGTCGTCGTCC	G,*	307.44	.	AC=1,2;AF=0.025,0.050;AN=40;BaseQRankSum=0.869;DP=416;ExcessHet=0.3300;FS=1.130;InbreedingCoeff=-0.0911;MLEAC=1,2;MLEAF=0.025,0.050;MQ=60.00;MQRankSum=0.00;QD=6.99;ReadPosRankSum=1.92;SOR=0.527	GT:AD:DP:GQ:PL	0/2:9,0,6:15:99:225,252,630,0,378,360	17	0	1	1
chr1	10639086	10639098	GTCGTCGTCGTCC	0	exonic	CASZ1	.	.	.	.	.	549	931	4	1	37	43	0.00321199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	307.44	13	chr1	10639086	.	GTCGTCGTCGTCC	G,*	307.44	.	AC=1,2;AF=0.025,0.050;AN=40;BaseQRankSum=0.869;DP=416;ExcessHet=0.3300;FS=1.130;InbreedingCoeff=-0.0911;MLEAC=1,2;MLEAF=0.025,0.050;MQ=60.00;MQRankSum=0.00;QD=6.99;ReadPosRankSum=1.92;SOR=0.527	GT:AD:DP:GQ:PL	0/2:9,0,6:15:99:225,252,630,0,378,360	17	0	1	1
chr1	10639099	10639104	TCGTCG	-	exonic	CASZ1	.	nonframeshift deletion	CASZ1:NM_001079843:exon21:c.5118_5123del:p.D1706_D1707del,	.	.	533	983	4	1	1	7	0.0030426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.025e-05	1.328e-05	9.966e-06	1.054e-05	0.0011	5.18e-06	3.78e-06	0.0003	0.0002	0.0002	0	0	0	0	0.0011	2.434e-06	6.002e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	181.02	13	chr1	10639098	.	CTCGTCG	C,*	181.02	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-3.550e-01;DP=444;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0502;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=7.87;ReadPosRankSum=1.02;SOR=0.836	GT:AD:DP:GQ:PL	0/0:17,0,0:17:51:0,51,448,51,448,448	19	0	1	0
chr1	10639098	10639104	CTCGTCG	0	exonic	CASZ1	.	.	.	.	.	533	983	4	1	1	7	0.0030426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	181.02	13	chr1	10639098	.	CTCGTCG	C,*	181.02	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-3.550e-01;DP=444;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0502;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=7.87;ReadPosRankSum=1.02;SOR=0.836	GT:AD:DP:GQ:PL	0/0:17,0,0:17:51:0,51,448,51,448,448	19	0	1	0
chr1	10639131	10639131	-	TCGTCCTCGTCC	exonic	CASZ1	.	nonframeshift insertion	CASZ1:NM_001079843:exon21:c.5090_5091insGGACGAGGACGA:p.D1696_D1697insEDED,	.	.	.	.	.	.	.	.	.	.	.	1598478	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0	0	0	0	0.0047	0	0.0004	0.0001153	3	26028	rs746886067	0.0006	0.0005	0.0006	0.0006	0.0025	0.0005	0.0005	0.0011	0.0008	0.0002	0.0004	0.0160	0	0	0.0025	0.0004	0.0015	0.0002	0.0009	0.0009	0.0009	0.0009	0.0007	0.0008	0.0008	0.0005	0.0005	7.349e-05	0	6.79e-05	0.0229	0	0	0.0071	0.0007	0.0030	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2531.95	15	chr1	10639131	.	G	GTCGTCCTCGTCC	2531.95	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.075e+00;DP=560;ExcessHet=0.0000;FS=6.614;InbreedingCoeff=-0.0248;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.33;ReadPosRankSum=0.342;SOR=1.238	GT:AD:DP:GQ:PL	0/0:17,0:17:45:0,45,675	20	0	1	0
chr1	10648050	10648050	G	A	exonic	CASZ1	.	nonsynonymous SNV	CASZ1:NM_001079843:exon16:c.C3248T:p.A1083V	.	.	378	1135	8	1	0	10	0.00438596	.	.	2092842	not_provided|CASZ1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.867	P	0.382	B	0.000	D	0.761	N	1.39	L	.	.	-0.823	T	0.133	T	0.26	2.823	15.40	4.63	1.331	1.865	16.626	0.045	0.00967934486931	0.0008	0.000399361	0.0014	0	0.0008	0	0	0.0021	0.0018	0.0011	0.0009508	147	154602	rs138085050	0.0009	0.0009	0.0009	0.0010	0.0028	0.0009	0.0009	0.0018	0.0014	3.016e-05	0.0010	0.0027	0	5.771e-05	0.0028	0.0010	0.0011	0.0010	0.0011	0.0010	0.0009	0.0012	0.0035	0.0009	0.0009	0.0028	0.0025	7.22e-05	0	0.0035	0.0035	0	0	0.0068	0.0012	0.0014	0.0002	0.014	0.57480	D	0.025	0.56192	D	0.867	0.47667	P	0.382	0.43908	B	0.000156	0.49130	D	0.208574	0.761077	0.29538	N	1.04	0.26193	L	.	.	.	-0.82	0.24026	N	0.373	0.41459	-0.8228	0.53758	T	0.133	0.44603	T	9	0.01191923	0.00258	T	0.009679	0.25290	T	0.045	0.12272	.	.	0.082315109003	0.07666	0.27405522234395513	0.27318	.	.	0.414805203676	0.27122	T	0.217276	0.57967	T	-0.39944	0.02335	T	-0.376624	0.36116	T	0.0422125662383712	0.04094	T	0.808619	0.45852	T	0.07227204	0.16065	0.107286446	0.25826	0.07631859	0.17251	0.10051319	0.24034	-4.097	0.25246	T	.	.	0.093	0.13969	B	.;.	.;.	2.548886	0.32991	19.21	0.99822198191608613	0.90502	0.94659	0.61892	D	AEFBI	0.604542	0.59560	D	0.118441575963013	0.47325	2.959665	0.130446200567237	0.46115	2.86275	0.991851987846841	0.32632	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	5.55	4.63	0.57175	2.018000	0.40610	6.569000	0.55962	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.058000	0.15825	0.0:0.4171:0.5829:0.0	16.626	0.84824	793	0.45818	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1923.08	35	chr1	10648050	.	G	A	1923.08	.	AC=2;AF=0.048;AN=42;DP=765;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.16;SOR=0.997	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1210	20	1	0	0
chr1	10649167	10649167	C	T	exonic	CASZ1	.	nonsynonymous SNV	CASZ1:NM_001079843:exon15:c.G3061A:p.G1021S	.	.	418	1099	5	0	0	5	0.00226963	.	.	3030020	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.015	B	0.006	B	0.000	D	0.876	N	-0.345	N	.	.	-1.075	T	0.048	T	0.09	2.697	14.98	4.27	2.406	2.807	9.651	0.062	0.00522111818639	0.0002	.	8.436e-05	0	0	0	0	9.208e-05	0	0.0002	6.47e-05	10	154602	rs201245525	4.653e-05	4.652e-05	2.86e-05	6.465e-05	0.0004	3.729e-05	3.412e-05	0.0003	0.0002	0	0	3.826e-05	0	0	0.0003	2.698e-05	6.624e-05	0.0004	6.569e-06	6.567e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.055	0.38407	T	0.152	0.32249	T	0.015	0.17086	B	0.006	0.12133	B	0.000038	0.55875	D	0.160619	0.876073	0.28128	N	0	0.06538	N	.	.	.	-0.36	0.15986	N	0.151	0.22228	-1.0755	0.08246	T	0.048	0.20315	T	9	0.0693109	0.09928	T	0.005221	0.13310	T	0.062	0.17934	.	.	0.043077524339	0.03247	0.3733315186782187	0.37247	.	.	0.629570424557	0.57084	T	0.110242	0.42478	T	-0.428174	0.01520	T	-0.56067	0.16315	T	0.0593338444551882	0.07063	T	0.927207	0.73169	D	0.06640846	0.14284	0.08604449	0.19909	0.06640846	0.14284	0.08604449	0.19909	-0.691	0.12652	T	.	.	0.068	0.02765	B	.;.	.;.	4.190940	0.63170	24.5	0.98527273186461384	0.42545	0.65554	0.32776	D	AEFDBHCI	0.603343	0.59486	D	-0.295888549534124	0.29306	1.62405	-0.0887774327472579	0.35853	2.079235	0.999999999839682	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.64067	0.45733	0	0.604944	0.38103	0	.	.	5.19	4.27	0.50009	2.852000	0.48008	2.639000	0.33742	0.589000	0.31548	0.990000	0.36992	0.992000	0.31684	0.794000	0.37478	0.0:0.7851:0.1395:0.0754	9.651	0.39062	798	0.45050	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3880.08	35	chr1	10649167	.	C	T	3880.08	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.015e+00;DP=822;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=31.29;ReadPosRankSum=-1.006e+00;SOR=0.243	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	20	1	0	0
chr1	10653940	10653940	G	A	exonic	CASZ1	.	nonsynonymous SNV	CASZ1:NM_001079843:exon11:c.C2117T:p.P706L	.	.	420	1093	9	0	0	9	0.00410023	.	.	2094064	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.06	T	0.996	D	0.753	P	0.000	D	1.000	D	1.355	L	.	.	-0.590	T	0.259	T	0.385	4.664	25.7	4.84	2.619	9.315	18.842	0.153	0.0161741442526	0.0013	0.00119808	0.0012	0.0016	0.0019	0	0	0.0014	0.0033	0.0004	0.0011125	172	154602	rs61736955	0.0010	0.0010	0.0010	0.0011	0.0149	0.0010	0.0010	0.0124	0.0114	0.0026	0.0020	0.0075	0	0	0.0149	0.0008	0.0027	0.0007	0.0015	0.0015	0.0015	0.0016	0.0031	0.0014	0.0013	0.0024	0.0022	0.0015	0	0.0031	0.0089	0	0	0.0136	0.0011	0.0014	0.0006	0.001	0.78490	D	0.002	0.79402	D	0.981	0.64070	D	0.254	0.48708	B	0.000140	0.49741	D	0.215662	0.999997	0.58761	D	0.895	0.22405	L	.	.	.	-2.7	0.57599	D	0.45	0.48780	-0.5896	0.65237	T	0.259	0.62933	T	9	0.005784869	0.00129	T	0.016174	0.37293	T	0.153	0.40148	.	.	0.138757226776	0.13463	0.5369737402622605	0.53622	.	.	0.585120081902	0.50807	T	0.307474	0.67962	T	-0.267236	0.12067	T	-0.163119	0.58071	T	0.0320972402382619	0.02321	T	0.921708	0.71584	D	0.25234944	0.48249	0.2414009	0.49537	0.2367212	0.46526	0.25741038	0.51456	-7.058	0.54456	T	.	.	0.092	0.13550	B	.;.	.;.	4.731177	0.76202	26.5	0.99873771077825413	0.95076	0.95391	0.64536	D	AEFDBHCI	0.879240	0.80505	D	0.593987721383902	0.72796	5.862817	0.632332800186163	0.77301	6.652937	0.999999999992004	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.84	4.84	0.62125	9.241000	0.94526	8.494000	0.77338	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.897000	0.43391	0.0:0.0:1.0:0.0	18.842	0.92156	790	0.46189	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1596.98	65	chr1	10653940	.	G	A	1596.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.25;DP=1114;ExcessHet=0.0000;FS=0.745;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.50;ReadPosRankSum=0.288;SOR=0.557	GT:AD:DP:GQ:PL	0/1:48,55:103:99:1611,0,1206	20	0	1	0
chr1	10653973	10653973	C	T	exonic	CASZ1	.	nonsynonymous SNV	CASZ1:NM_001079843:exon11:c.G2084A:p.R695Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	1.0	D	0.991	D	0.000	D	1.000	D	1.1	L	.	.	-0.584	T	0.298	T	0.652	5.418	35	4.84	2.619	7.378	18.842	0.164	0.00359546806377	.	.	1.657e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs745664959	1.437e-05	1.436e-05	8.169e-06	2.063e-05	0.0002	9.23e-06	7.84e-06	0.0001	9.451e-05	2.987e-05	0	0	0	0	0.0002	8.994e-07	3.313e-05	0.0002	1.971e-05	1.97e-05	1.284e-05	2.689e-05	0.0004	5.24e-06	2.45e-06	7.279e-05	3.025e-05	2.413e-05	0	0	0	0	0	0	0	0	0.0004	0.124	0.34800	T	0.009	0.66756	D	0.998	0.73220	D	0.991	0.79672	D	0.000002	0.62929	D	0.056733	0.999834	0.49637	D	0.41	0.12415	N	.	.	.	-0.96	0.27669	N	0.78	0.77695	-0.5844	0.65443	T	0.298	0.66896	T	9	0.53703505	0.63506	D	0.003595	0.08216	T	0.164	0.42212	0.244	0.17830	0.284112513307	0.28011	0.7194710281258782	0.71890	.	.	0.674207568169	0.63438	T	0.205879	0.56507	T	-0.0783636	0.39981	T	-0.0906613	0.64112	T	0.796608686447144	0.46124	D	0.981135	0.93511	D	0.24126293	0.47039	0.15850842	0.37011	0.24126293	0.47039	0.15850842	0.37011	-13.863	0.93140	D	.	.	0.653	0.71043	P	.;.	.;.	5.160641	0.86467	28.9	0.99945460876853609	0.99886	0.97793	0.77174	D	AEFDBHCI	0.909919	0.86716	D	0.629771159484221	0.75066	6.240699	0.644124000954704	0.78176	6.823482	1.0	0.98316	0.651	0.46895	0	0.708844	0.79440	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.84	4.84	0.62125	5.714000	0.68074	7.601000	0.61564	0.596000	0.33519	1.000000	0.71638	0.999000	0.35428	0.999000	0.91618	0.0:1.0:0.0:0.0	18.842	0.92156	790	0.46189	Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1618.98	65	chr1	10653973	.	C	T	1618.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=1145;ExcessHet=0.0000;FS=1.688;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.03;ReadPosRankSum=1.56;SOR=0.929	GT:AD:DP:GQ:PL	0/0:103,0:103:99:0,120,1800	20	0	1	0
chr1	10659877	10659877	C	G	exonic	CASZ1	.	nonsynonymous SNV	CASZ1:NM_001079843:exon6:c.G1165C:p.V389L	.	.	.	.	.	.	.	.	.	.	.	2910383	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.42	T	0.03	B	0.019	B	0.073	N	1.000	N	0.55	N	.	.	-1.051	T	0.044	T	0.086	0.917	8.734	3.7	1.066	1.183	8.787	0.067	0.00492363081495	0.0022	0.000998403	0.0005	0.0053	0.0004	0	0	6.26e-05	0	6.186e-05	0.0004722	73	154602	rs145422074	0.0002	0.0002	0.0002	0.0002	0.0069	0.0002	0.0002	0.0061	0.0058	0.0069	0.0004	0	0	0	0.0021	3.061e-05	0.0005	1.162e-05	0.0013	0.0013	0.0014	0.0012	0.0043	0.0011	0.0011	0.0038	0.0036	0.0043	0	0.0005	0	0	0	0	0.0001	0.0014	0	0.169	0.37966	T	0.425	0.13912	T	0.005	0.12996	B	0.007	0.12992	B	0.072888	0.21381	N	0.495689	0.999999	0.08975	N	0	0.06538	N	.	.	.	-0.24	0.11185	N	0.202	0.25499	-1.0511	0.14092	T	0.044	0.18948	T	9	0.004233271	0.00085	T	0.004924	0.12380	T	0.067	0.19503	.	.	0.0934897674506	0.08844	0.20601532280971077	0.20518	.	.	0.449248731136	0.31841	T	0.152627	0.49310	T	-0.581308	0.00189	T	-0.606832	0.12243	T	0.00206120113121569	0.00021	T	0.521348	0.17328	T	0.04749861	0.08127	0.052684743	0.08728	0.04749861	0.08127	0.052684743	0.08728	-2.853	0.09314	T	.	.	0.097	0.15743	B	.;.	.;.	2.315466	0.29642	18.19	0.96017262906046119	0.28462	0.77999	0.38419	D	AEFBI	0.185714	0.31303	N	-0.464827164123193	0.23240	1.24661	-0.310930504939589	0.27745	1.541738	0.969932732163445	0.29168	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.63	3.7	0.41607	0.628000	0.24215	2.207000	0.31336	-0.237000	0.07570	0.432000	0.26424	0.996000	0.32793	0.847000	0.40026	0.0:0.7635:0.1516:0.0849	8.787	0.33985	776	0.48302	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	645.98	33	chr1	10659877	.	C	G	645.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.88;DP=831;ExcessHet=0.0000;FS=2.488;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=0.248;SOR=0.815	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr1	10660197	10660197	G	A	exonic	CASZ1	.	nonsynonymous SNV	CASZ1:NM_001079843:exon6:c.C845T:p.T282M	.	.	422	1056	40	4	0	48	0.0222222	.	.	718055	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.06	T	0.998	D	0.78	P	0.190	N	0.997	N	0.55	N	.	.	-1.056	T	0.073	T	0.172	2.517	14.38	4.38	2.160	2.029	13.121	0.058	.	0.0059	0.00519169	0.0082	0.0015	0.0026	0.0004	0.0067	0.0100	0.0056	0.0135	0.0074837	1157	154602	rs61736951	0.0072	0.0072	0.0068	0.0076	0.0191	0.0071	0.0071	0.0162	0.0151	0.0019	0.0034	0.0160	0.0007	0.0055	0.0191	0.0069	0.0080	0.0150	0.0056	0.0056	0.0051	0.0061	0.0129	0.0053	0.0051	0.0103	0.0094	0.0012	0.0022	0.0059	0.0159	0.0006	0.0047	0.0136	0.0075	0.0090	0.0129	0.189	0.21224	T	0.107	0.37730	T	0.994	0.66517	D	0.669	0.53077	P	0.190046	0.16871	N	0.601187	0.996524	0.22987	N	0.345	0.11182	N	.	.	.	-0.63	0.19720	N	0.255	0.38129	-1.0558	0.12829	T	0.073	0.29675	T	9	0.004262656	0.00085	T	.	.	.	0.058	0.16647	.	.	0.117191471859	0.11215	0.11922760581229094	0.11849	.	.	0.504599630833	0.39469	T	0.201332	0.55919	T	-0.471224	0.00835	T	-0.43798	0.29036	T	0.0267151649434157	0.01504	T	0.822018	0.48145	T	0.041268017	0.06047	0.05852582	0.10829	0.043633867	0.06834	0.05852582	0.10828	-4.584	0.32184	T	.	.	0.086	0.15475	B	.;.	.;.	3.062232	0.41128	21.3	0.99763478845760645	0.85254	0.87686	0.47309	D	AEFBI	0.337971	0.43559	N	0.187735215576894	0.50610	3.249349	0.183295668271457	0.48932	3.102669	0.999283082583387	0.39007	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.38	4.38	0.52019	4.139000	0.57788	6.578000	0.55988	0.618000	0.50648	0.976000	0.34826	1.000000	0.68203	0.214000	0.22296	0.0:0.161:0.839:0.0	13.121	0.58746	777	0.48198	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2025.11	33	chr1	10660197	.	G	A	2025.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.28;DP=886;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=0.454;SOR=0.736	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	19	0	2	0
chr1	10660248	10660248	A	G	exonic	CASZ1	.	nonsynonymous SNV	CASZ1:NM_001079843:exon6:c.T794C:p.V265A	.	.	424	1071	26	1	0	28	0.0129032	.	.	695947	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.084	N	1.000	N	-0.55	N	.	.	-0.985	T	0.015	T	0.012	-2.557	0.003	1.3	0.082	0.831	3.961	0.029	.	0.0069	0.00299521	0.0073	0.0010	0.0046	0	0.0017	0.0115	0.0056	0.0022	0.0069469	1074	154602	rs138985539	0.0081	0.0081	0.0082	0.0080	0.0104	0.0080	0.0079	0.0087	0.0086	0.0016	0.0059	0.0313	0	0.0021	0.0104	0.0088	0.0088	0.0024	0.0070	0.0070	0.0075	0.0065	0.0102	0.0066	0.0065	0.0096	0.0094	0.0015	0	0.0095	0.0297	0.0002	0.0011	0.0306	0.0102	0.0114	0.0021	0.908	0.02477	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.083835	0.20731	N	0.492755	1	0.08975	N	-0.345	0.03330	N	.	.	.	0.52	0.02853	N	0.052	0.02366	-0.9854	0.33735	T	0.015	0.05801	T	9	0.0022799373	0.00033	T	.	.	.	0.029	0.06676	.	.	0.043077524339	0.03247	0.08958754732725842	0.08891	.	.	0.458169311285	0.33059	T	0.111085	0.42630	T	-0.703405	0.00035	T	-0.771493	0.02719	T	0.000453725176605205	0.00004	T	0.349165	0.07749	T	0.0205099	0.00611	0.024355443	0.00453	0.026193097	0.01646	0.024355443	0.00453	-2.53	0.06004	T	.	.	0.051	0.00234	B	.;.	.;.	-0.290436	0.02660	0.340	0.20271689420521952	0.00722	0.04523	0.10152	N	AEFBI	0.045906	0.07563	N	-1.40019804897115	0.02638	0.1167413	-1.31256629560817	0.04267	0.2008946	0.777367603031914	0.23775	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.38	1.3	0.20778	0.977000	0.29072	0.320000	0.17174	-0.745000	0.03636	0.582000	0.27602	0.000000	0.08366	0.047000	0.14932	0.4216:0.0:0.4186:0.1597	3.961	0.08906	778	0.48011	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2997.11	33	chr1	10660248	.	A	G	2997.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.17;DP=1009;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=1.41;SOR=0.701	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	19	0	2	0
chr1	11045485	11045485	C	T	exonic	MASP2	.	nonsynonymous SNV	MASP2:NM_006610:exon4:c.G467A:p.C156Y	MASP2 deficiency, Autosomal recessive	.	0	1508	14	0	0	14	0.00462046	.	.	275880	not_provided|Immunodeficiency_due_to_MASP-2_deficiency|not_specified	MedGen:C3661900|MONDO:MONDO:0013423,MedGen:C3151085,OMIM:613791,Orphanet:331187|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.63	H	-5.76	D	0.781	D	0.985	D	0.964	4.511	24.3	4.22	2.048	7.595	15.710	0.982	0.617876174787	0.0075	0.00319489	0.0066	0.0020	0.0009	0	0.0030	0.0091	0.0094	0.0078	0.0063971	989	154602	rs41307788	0.0084	0.0084	0.0084	0.0084	0.0096	0.0083	0.0082	0.0095	0.0094	0.0013	0.0016	0.0052	5.038e-05	0.0036	0.0024	0.0096	0.0084	0.0071	0.0056	0.0056	0.0062	0.0049	0.0092	0.0053	0.0051	0.0086	0.0083	0.0020	0.0285	0.0016	0.0072	0	0.0029	0.0034	0.0092	0.0028	0.0054	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.395	0.98631	H	-5.76	0.99330	D	-10.46	0.99308	D	0.939	0.94550	0.781	0.94182	D	0.985	0.99538	D	10	0.06558162	0.08870	T	0.617876	0.96683	D	0.982	0.99890	.	.	0.953262336798	0.95276	0.8897999682880618	0.88949	0.334673750531	0.35479	0.706235647202	0.68048	T	0.484895	0.81202	T	0.23001	0.76722	D	0.568005	0.96196	D	0.116441120712496	0.14078	T	0.852615	0.79230	D	0.9833007	0.99351	0.98401016	0.99907	0.9784052	0.98985	0.9805422	0.99833	-12.261	0.86098	D	.	.	0.956	0.90609	P	.;.	.;.	4.858918	0.79490	27.1	0.9973246173666489	0.82904	0.98136	0.79906	D	AEFDBI	0.957603	0.97689	D	0.968969080821103	0.94707	12.97358	0.81460923233621	0.90789	10.57003	0.999999999999017	0.74766	0.495158	0.18159	0	0.573888	0.26702	0	0.535252	0.11790	0	0.613276	0.41899	0	.	.	4.22	4.22	0.49153	7.791000	0.84392	5.917000	0.51107	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:1.0:0.0:0.0	15.710	0.77376	799	0.44747	EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like calcium-binding domain|EGF-like domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	733.98	36	chr1	11045485	.	C	T	733.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.103e+00;DP=771;ExcessHet=0.0000;FS=6.493;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.95;ReadPosRankSum=0.057;SOR=0.863	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,970	20	0	1	0
chr1	11045513	11045513	C	G	exonic	MASP2	.	nonsynonymous SNV	MASP2:NM_006610:exon4:c.G439C:p.G147R	MASP2 deficiency, Autosomal recessive	.	1	1519	2	0	0	2	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.947	P	0.583	P	0.022	N	0.998	D	2.185	M	-1.58	D	0.301	D	0.573	D	0.375	4.305	22.6	4.23	2.052	7.493	15.729	0.518	0.203403829841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.135	0.60972	T	0.947	0.53479	P	0.583	0.50264	P	0.022426	0.26635	N	0.352416	0.998206	0.44627	D	1.115	0.28702	L	-1.58	0.81987	D	-1.54	0.57275	N	0.323	0.37613	0.301	0.87570	D	0.573	0.84554	D	10	0.39248717	0.54992	T	0.203404	0.86874	D	0.518	0.79461	0.618	0.75232	0.880728160374	0.87955	0.4564001750243396	0.45558	0.176759458968	0.19889	0.385195732117	0.22990	T	0.333397	0.70326	T	0.0315271	0.55928	T	-0.19249	0.55357	T	0.912825882434845	0.56887	D	0.757524	0.38090	T	0.39317828	0.60257	0.274312	0.53358	0.39317828	0.60257	0.274312	0.53357	-7.61	0.58381	D	.	.	0.109	0.38462	B	.;.	.;.	3.446166	0.47969	22.5	0.9986274007794983	0.94093	0.99432	0.95955	D	AEFDBI	0.930807	0.91867	D	0.186901142048641	0.50571	3.245744	0.174444271678738	0.48450	3.060825	0.999999999999967	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.459711	0.06710	0	0.613276	0.41899	0	.	.	4.23	4.23	0.49319	5.932000	0.69838	3.972000	0.40833	0.594000	0.32500	0.825000	0.30060	0.251000	0.23919	0.345000	0.25546	0.0:1.0:0.0:0.0	15.729	0.77552	799	0.44747	EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like calcium-binding domain|EGF-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	851.98	36	chr1	11045513	.	C	G	851.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.713;DP=756;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.08;ReadPosRankSum=1.38;SOR=0.559	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,970	20	0	1	0
chr1	11129799	11129799	C	T	exonic	MTOR	.	nonsynonymous SNV	MTOR:NM_004958:exon40:c.G5653A:p.V1885I,	Smith-Kingsmore syndrome, Autosomal dominant	.	427	1090	5	0	0	5	0.00228833	.	.	390746	not_specified|not_provided|MTOR-related_disorder|Isolated_focal_cortical_dysplasia_type_II|Macrocephaly-intellectual_disability-neurodevelopmental_disorder-small_thorax_syndrome	MedGen:CN169374|MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341,Orphanet:268994|MONDO:MONDO:0014716,MedGen:C4225259,OMIM:616638,Orphanet:457485	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.51	T	0.984	D	0.718	P	0.000	D	1.000	D	1.55	L	-0.73	T	-0.537	T	0.381	T	0.682	2.887	15.62	5.79	2.733	7.454	20.04	0.321	0.0213030344094	0.0005	0.000399361	0.0003	0.0002	0.0002	0.0001	0	0.0005	0.0011	0.0001	0.0003169	49	154602	rs139043855	0.0003	0.0003	0.0003	0.0003	0.0010	0.0003	0.0003	0.0005	0.0003	0	0.0002	0.0008	5.038e-05	1.872e-05	0.0010	0.0003	0.0004	0.0002	0.0003	0.0003	0.0002	0.0004	0.0005	0.0002	0.0002	0.0004	0.0003	7.216e-05	0	0.0004	0.0009	0	0	0	0.0005	0.0005	0	0.66	0.06691	T	0.779	0.08565	T	0.984	0.60733	D	0.718	0.54779	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1	0.25136	L	-0.73	0.73100	T	-0.86	0.23372	N	0.515	0.57860	-0.5366	0.67292	T	0.381	0.73759	T	10	0.19376647	0.35160	T	0.021303	0.44047	T	0.321	0.64318	.	.	0.758391514038	0.75620	0.5442220278547816	0.54348	1.03671017739	0.75637	0.68885833025	0.65541	T	0.242336	0.67651	T	-0.118484	0.33372	T	-0.0630316	0.66120	T	0.0516656994879905	0.05789	T	0.959904	0.84889	D	0.13588083	0.31520	0.14220059	0.33838	0.121197015	0.28505	0.13616982	0.32581	-6.862	0.53019	T	0.25892458520192885	0.34980	0.157	0.38747	B	.;.	.;.	4.206671	0.63523	24.6	0.99301623067403444	0.58650	0.99259	0.93576	D	AEFDBI	0.843850	0.76085	D	0.565402418611722	0.71026	5.588573	0.607968637223394	0.75518	6.324664	0.999999999973652	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.79	5.79	0.91751	7.537000	0.80946	7.637000	0.63009	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.540000	0.29938	0.0:1.0:0.0:0.0	20.04	0.97580	369	0.84396	PIK-related kinase, FAT|PIK-related kinase;PIK-related kinase, FAT|PIK-related kinase	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1848.98	33	chr1	11129799	.	C	T	1848.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.81;DP=864;ExcessHet=0.0000;FS=0.582;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=0.817;SOR=0.601	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr1	11711942	11711942	G	A	exonic	DRAXIN	.	nonsynonymous SNV	DRAXIN:NM_198545:exon4:c.G734A:p.G245D,	.	.	424	1077	21	0	0	21	0.00965517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.175	B	0.058	B	0.171	N	1.000	N	-0.345	N	1.0	T	-1.011	T	0.027	T	0.102	0.518	6.806	2.19	0.127	0.606	5.986	0.013	0.00869014086054	0.0023	0.00239617	0.0030	0.0005	0.0040	0	0	0.0039	0.0025	0.0034	0.0026326	407	154602	rs143337024	0.0026	0.0026	0.0025	0.0026	0.0189	0.0025	0.0025	0.0160	0.0149	0.0007	0.0038	0.0059	0	9.365e-05	0.0189	0.0025	0.0038	0.0035	0.0025	0.0025	0.0023	0.0028	0.0084	0.0023	0.0022	0.0073	0.0068	0.0004	0.0022	0.0084	0.0063	0	0.0002	0.0068	0.0027	0.0062	0.0029	0.667	0.04602	T	0.659	0.06533	T	0.175	0.28858	B	0.058	0.26451	B	0.171464	0.17362	N	0.571130	1	0.08975	N	0	0.06538	N	1.0	0.41392	T	-0.13	0.08971	N	0.1	0.08227	-1.0106	0.26729	T	0.027	0.11618	T	10	0.0050876737	0.00110	T	0.00869	0.22952	T	0.013	0.01715	.	.	0.158396225186	0.15383	0.20699269443867516	0.20615	0.335625430574	0.35560	0.271372318268	0.06320	T	0.038483	0.24856	T	-0.597618	0.00151	T	-0.627208	0.10627	T	0.00131839134968863	0.00013	T	0.772323	0.40326	T	0.022511011	0.00919	0.03660499	0.03140	0.022511011	0.00919	0.03660499	0.03139	-4.245	0.27398	T	.	.	0.14	0.30686	B	.	.	2.128777	0.27101	17.35	0.88116028305620708	0.17728	0.45031	0.27448	N	AEFBI	0.062487	0.12014	N	-0.890550320041349	0.11066	0.5320832	-0.740347626990683	0.15959	0.8419655	0.829381201005123	0.24665	0.732398	0.92422	0	0.851559	0.99867	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.7	2.19	0.26890	0.831000	0.27129	1.939000	0.29818	-0.140000	0.12423	0.989000	0.36753	1.000000	0.68203	0.516000	0.29383	0.0:0.2138:0.1347:0.6515	5.986	0.18662	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2537.98	38	chr1	11711942	.	G	A	2537.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.497;DP=954;ExcessHet=0.0000;FS=1.045;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.64;ReadPosRankSum=1.33;SOR=0.601	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	20	0	1	0
chr1	11801164	11801164	C	A	exonic	MTHFR	.	stopgain	MTHFR:NM_001330358:exon3:c.G595T:p.G199X	Homocystinuria due to MTHFR deficiency, Autosomal recessive	YES	3	1517	2	0	0	2	0.000658762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	12.783	46	5.66	2.668	7.175	18.320	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000001	0.62929	D	0.098581	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.923	0.92667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.60412	0.97692	D	0.63	0.97656	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;Recessive;.;.;.;.	.;High;High;.;.;.;.	10.933676	0.99877	50	0.99311217065053148	0.59017	0.94183	0.60365	D	AEFGBCI	0.247806	0.36832	N	1.14629666135424	0.98903	19.81644	0.999139086605694	0.98610	18.78838	1.0	0.98316	0.566229	0.32551	0	0.615513	0.52658	0	0.554053	0.18673	1	0.636168	0.56350	0	.	.	5.66	5.66	0.87293	7.254000	0.77751	7.624000	0.62436	0.577000	0.29297	1.000000	0.71638	1.000000	0.68203	0.892000	0.42986	0.0:1.0:0.0:0.0	18.320	0.90175	895	0.25842	.;.;.;.;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1641.98	37	chr1	11801164	.	C	A	1641.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.887e+00;DP=816;ExcessHet=0.0000;FS=0.673;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=0.659;SOR=0.793	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1259	20	0	1	0
chr1	12009684	12009684	T	C	exonic	MFN2	.	nonsynonymous SNV	MFN2:NM_001127660:exon17:c.T2162C:p.I721T	Charcot-Marie-Tooth disease, axonal, type 2A2A, Autosomal dominant;Charcot-Marie-Tooth disease, axonal, type 2A2B, Autosomal recessive;Hereditary motor and sensory neuropathy VIA, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	556584	Charcot-Marie-Tooth_disease_type_2|Inborn_genetic_diseases	MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.345	B	0.517	P	0.000	N	1.000	D	2.625	M	-4.27	D	1.044	D	0.927	D	0.776	4.246	22.1	5.28	2.217	7.525	14.558	0.868	0.338733812531	7.7e-05	.	8.238e-06	0	0	0	0	1.499e-05	0	0	1.94e-05	3	154602	rs150946795	6.156e-06	6.156e-06	5.445e-06	6.875e-06	0.0002	2.9e-06	2.1e-06	1.94e-06	1.28e-06	0	0	0	0	0	0.0002	5.396e-06	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.41637	D	0.052	0.47581	T	0.345	0.33546	B	0.517	0.48105	P	0.000088	0.51296	N	0.167380	0.999999	0.81001	D	1.545	0.39105	L	-4.27	0.97101	D	-3.34	0.66325	D	0.546	0.57263	1.044	0.97981	D	0.927	0.97598	D	10	0.73856413	0.74794	D	0.338734	0.91955	D	0.868	0.96022	.	.	0.918256240627	0.91743	0.6251870485183565	0.62451	0.529254811961	0.50493	0.554426789284	0.46480	T	0.835611	0.96117	D	0.292233	0.82338	D	0.245642	0.85415	D	0.851077497005463	0.50259	D	0.918408	0.70674	D	0.46116176	0.64743	0.40530223	0.64934	0.46116176	0.64743	0.40530223	0.64934	-6.814	0.52663	T	0.25146447352264123	0.34027	0.101	0.17615	B	.;.	.;.	4.022701	0.59421	24.1	0.99817598721020739	0.90061	0.97407	0.74553	D	AEFDBCI	0.892314	0.82912	D	0.481066079994326	0.65986	4.891917	0.534211347126823	0.70306	5.485957	0.999999999882782	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.28	5.28	0.74118	5.949000	0.69973	7.806000	0.69288	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.558	0.67703	774	0.48577	Fzo/mitofusin HR2 domain;Fzo/mitofusin HR2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	968.98	33	chr1	12009684	.	T	C	968.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.506;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.42;ReadPosRankSum=-2.330e-01;SOR=0.657	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1255	20	0	1	0
chr1	12084503	12084503	C	A	exonic	TNFRSF8	.	nonsynonymous SNV	TNFRSF8:NM_001243:exon2:c.C103A:p.H35N,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.009	B	0.008	B	0.107	N	1.000	N	0.695	N	-2.81	D	-0.565	T	0.518	D	0.036	0.888	8.604	1.22	0.278	-0.376	4.036	0.128	0.192930324736	.	.	3.302e-05	0	0	0	0	0	0.0011	0.0002	2.59e-05	4	154602	rs761337975	5.473e-06	5.472e-06	5.445e-06	5.5e-06	6.956e-05	2.35e-06	1.7e-06	2.995e-05	2.038e-05	0	0	0	2.519e-05	0	0	0	1.656e-05	6.956e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.349	0.17531	T	0.009	0.15093	B	0.008	0.13708	B	0.107179	0.02603	N	1.843320	1	0.08975	N	1.04	0.26193	L	-2.81	0.91134	D	-1.32	0.32991	N	0.235	0.26475	-0.5645	0.66231	T	0.518	0.81985	D	10	0.18933916	0.34530	T	0.19293	0.86274	D	0.128	0.35103	0.459	0.52590	0.223474106383	0.21959	0.6061811618693386	0.60549	0.222960362883	0.24822	0.334933638573	0.15678	T	0.226162	0.59110	T	-0.326548	0.06376	T	-0.470171	0.25497	T	0.0219841655343771	0.00907	T	0.40286	0.10299	T	0.05976287	0.12184	0.057518553	0.10469	0.05976287	0.12183	0.057518553	0.10469	-4.806	0.34661	T	.	.	0.131	0.28086	B	.	.	0.134471	0.05294	1.789	0.74700679315220997	0.10794	0.05608	0.11514	N	AEFBCI	0.047428	0.07985	N	-1.01168833822341	0.08361	0.3917204	-1.04055810461836	0.08904	0.4401855	0.9996578642894	0.41424	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.21	1.22	0.20300	-0.374000	0.07541	-0.302000	0.10107	0.585000	0.30472	0.000000	0.06391	0.000000	0.08366	0.057000	0.15750	0.1882:0.622:0.0:0.1898	4.036	0.09214	759	0.50631	TNFR/NGFR cysteine-rich region|Tumour necrosis factor receptor 8, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1861.98	40	chr1	12084503	.	C	A	1861.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.121;DP=898;ExcessHet=0.0000;FS=1.920;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=0.655;SOR=0.873	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1207	20	0	1	0
chr1	12111999	12111999	G	A	exonic	TNFRSF8	.	nonsynonymous SNV	TNFRSF8:NM_001281430:exon6:c.G445A:p.V149M	.	.	422	1099	1	0	0	1	0.000454752	.	.	2214974	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	1.0	D	1.0	D	0.000	N	1.000	D	2.16	M	-2.81	D	0.231	D	0.848	D	0.613	3.049	16.17	3.85	2.444	3.808	11.589	0.529	0.0939917334242	7.7e-05	.	4.996e-05	0	0	0.0005	0	3.028e-05	0	0	5.82e-05	9	154602	rs141023619	2.326e-05	2.326e-05	2.314e-05	2.338e-05	0.0003	1.674e-05	1.477e-05	0.0002	0.0001	0	0	0	0.0003	0	0	1.529e-05	6.624e-05	2.319e-05	4.594e-05	4.593e-05	3.853e-05	5.368e-05	0.0006	2.107e-05	1.525e-05	0.0002	8.375e-05	7.213e-05	0	0	0	0.0006	0	0	1.47e-05	0	0	0.0	0.91255	D	0.007	0.69154	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.00162	N	18.782400	0.815353	0.34699	D	2.195	0.61839	M	-2.81	0.91134	D	-2.15	0.48687	N	0.593	0.61256	0.231	0.86426	D	0.848	0.94943	D	10	0.65847814	0.70013	D	0.093992	0.76172	D	0.529	0.80128	.	.	0.78654609881	0.78457	0.6241590821087739	0.62348	0.781399682916	0.65310	0.548348546028	0.45625	T	0.368532	0.73341	T	-0.0536323	0.43895	T	0.0151857	0.71318	D	0.376469466780939	0.28047	T	0.89791	0.64303	D	0.18206774	0.39407	0.18644154	0.41817	0.18206774	0.39407	0.18644154	0.41816	-7.214	0.56522	T	.	.	0.775	0.76143	P	.;.	.;.	4.831363	0.78788	27.0	0.99859612441037993	0.93820	0.87069	0.46499	D	AEFDBI	0.293148	0.40384	N	0.537200381781179	0.69307	5.338269	0.447219869589566	0.64537	4.711287	0.562864320538773	0.21428	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	3.85	3.85	0.43556	3.832000	0.55485	8.923000	0.78398	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.380000	0.26335	0.0:0.0:1.0:0.0	11.589	0.50193	853	0.34956	.;TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|Tumour necrosis factor receptor 8, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1125.98	36	chr1	12111999	.	G	A	1125.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.270e-01;DP=785;ExcessHet=0.0000;FS=1.764;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.80;ReadPosRankSum=1.94;SOR=0.941	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1184	20	0	1	0
chr1	12253770	12253770	A	G	exonic	VPS13D	.	nonsynonymous SNV	VPS13D:NM_015378:exon7:c.A613G:p.I205V	.	.	438	1066	18	0	0	18	0.00837209	.	.	1545717	VPS13D-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.001	D	1.000	D	-0.09	N	0.81	T	-1.018	T	0.031	T	0.104	-0.064	3.688	1.84	0.054	1.087	5.551	0.047	0.00188998524225	0.0028	0.00179712	0.0025	0.0003	0.0021	0.0001	0.0002	0.0036	0.0033	0.0015	0.0025938	401	154602	rs61774897	0.0031	0.0031	0.0030	0.0032	0.0064	0.0030	0.0030	0.0048	0.0042	0.0004	0.0025	0.0157	0	0.0002	0.0064	0.0032	0.0034	0.0020	0.0023	0.0023	0.0023	0.0024	0.0044	0.0021	0.0021	0.0036	0.0033	0.0005	0	0.0044	0.0138	0	9.409e-05	0.0102	0.0030	0.0028	0.0014	.	.	.	0.84	0.03610	T	0.0	0.02946	B	0.001	0.06944	B	0.000832	0.41547	D	0.216253	0.975897	0.25407	N	-0.735	0.01762	N	.	.	.	.	.	.	0.217	0.24385	-1.0181	0.24334	T	0.031	0.13418	T	10	0.010130167	0.00227	T	0.00189	0.03325	T	.	.	.	.	0.043077524339	0.03247	0.14933114223322055	0.14855	.	.	0.303793847561	0.10970	T	0.057816	0.30670	T	-0.574703	0.00207	T	-0.595963	0.13153	T	0.00350162121524744	0.00037	T	0.653935	0.26417	T	0.041209448	0.06027	0.03329593	0.02200	0.042531952	0.06467	0.025643606	0.00617	-2.375	0.04982	T	0.13253507610897544	0.14139	0.064	0.01668	B	.;.	.;.	0.704139	0.10728	7.420	0.51522997681267424	0.04578	0.58479	0.30653	D	AEFBI	0.057484	0.10712	N	-0.905339394498752	0.10715	0.5134602	-0.700824040664418	0.16940	0.8984954	0.76011316289932	0.23495	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.48	1.84	0.24348	1.119000	0.30872	-0.066000	0.12360	-0.041000	0.17446	1.000000	0.71638	0.000000	0.08366	0.946000	0.48989	0.5772:0.1361:0.2867:0.0	5.551	0.16378	862	0.33134	Vacuolar protein sorting-associated protein 13, second N-terminal domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1762.98	36	chr1	12253770	.	A	G	1762.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.542e+00;DP=840;ExcessHet=0.0000;FS=2.844;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.45;ReadPosRankSum=-6.700e-02;SOR=0.499	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1364	20	0	1	0
chr1	12277831	12277831	G	A	exonic	VPS13D	.	nonsynonymous SNV	VPS13D:NM_015378:exon19:c.G4243A:p.D1415N	.	.	429	1091	2	0	0	2	0.000915751	.	.	680085	Fetal_akinesia_deformation_sequence_1|Arthrogryposis_multiplex_congenita|VPS13D-related_disorder|not_provided	Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994|Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.18	T	0.999	D	0.915	D	0.000	D	1.000	D	1.04	L	0.57	T	-0.822	T	0.213	T	0.092	4.032	20.7	6.17	2.941	7.548	20.879	0.147	.	0.0005	0.00259585	0.0027	0.0005	0.0062	0.0153	0.0036	0.0012	0.0022	0.0009	0.0024062	372	154602	rs79282181	0.0010	0.0010	0.0010	0.0010	0.0112	0.0009	0.0009	0.0104	0.0100	0.0003	0.0063	0.0021	0.0112	0.0042	0.0002	0.0002	0.0016	0.0007	0.0013	0.0013	0.0013	0.0013	0.0093	0.0011	0.0011	0.0072	0.0064	0.0004	0	0.0029	0.0020	0.0093	0.0029	0	0.0005	0.0014	0.0015	.	.	.	0.149	0.32568	T	0.999	0.77913	D	0.915	0.65091	D	0.000000	0.84330	D	0.000000	0.999792	0.49177	D	1.995	0.54099	M	.	.	.	.	.	.	0.656	0.66615	-0.8221	0.53802	T	0.213	0.57374	T	10	0.0048133433	0.00102	T	.	.	.	.	.	.	.	0.110392049598	0.10638	0.4648944658151008	0.46408	.	.	0.617404937744	0.55362	T	0.156316	0.49844	T	-0.48209	0.00719	T	-0.453589	0.27301	T	0.0183065443217658	0.00549	T	0.904909	0.66542	D	0.2649638	0.49565	0.24832514	0.50381	0.28599584	0.51618	0.26766604	0.52625	-5.582	0.42628	T	0.6445270800136347	0.71574	0.101	0.17445	B	.;.	.;.	4.575054	0.72214	25.8	0.99848089452417865	0.92750	0.99235	0.93223	D	AEFDBI	0.824680	0.74453	D	0.478405898110331	0.65830	4.872184	0.610806420364523	0.75723	6.361292	0.999999554772949	0.74766	0.566229	0.32551	0	0.546412	0.12157	0	0.679469	0.61720	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	7.673000	0.82956	10.025000	0.83150	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.879	0.99870	688	0.59122	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1827.98	40	chr1	12277831	.	G	A	1827.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.940e-01;DP=829;ExcessHet=0.0000;FS=0.621;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=-1.812e+00;SOR=0.759	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1365	20	0	1	0
chr1	12283702	12283702	T	G	exonic	VPS13D	.	nonsynonymous SNV	VPS13D:NM_015378:exon21:c.T5600G:p.L1867R	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.023	B	0.033	B	0.122	N	1.000	N	0	N	0.66	T	-1.032	T	0.051	T	0.348	-0.305	2.546	3.53	0.439	0.564	2.896	0.012	0.00337873581227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.45530	T	0.0	0.18885	B	0.0	0.22329	B	0.121589	0.18990	N	0.520652	1	0.08975	N	0.69	0.16971	N	.	.	.	.	.	.	0.318	0.35832	-1.0321	0.19777	T	0.051	0.21806	T	10	0.05791223	0.06726	T	0.003379	0.07572	T	.	.	0.355	0.35571	0.043077524339	0.03247	0.2005639899622379	0.19973	.	.	0.348939090967	0.17766	T	0.075212	0.35123	T	-0.108574	0.35005	T	-0.393736	0.34115	T	0.0493409112095833	0.05384	T	0.662834	0.27173	T	0.09981026	0.23560	0.09330764	0.22033	0.09981026	0.23560	0.09330764	0.22032	-4.354	0.28927	T	0.16145094444479716	0.19767	0.079	0.07177	B	.;.	.;.	2.817385	0.37108	20.4	0.9100729863505973	0.20257	0.30720	0.24154	N	AEFDBI	0.119735	0.23357	N	-0.863579425281324	0.11717	0.5670057	-0.748231390289686	0.15765	0.830789	0.88509651920789	0.25709	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.92	3.53	0.39533	0.633000	0.24289	5.132000	0.47660	0.665000	0.62972	0.342000	0.25692	0.997000	0.33255	0.950000	0.49671	0.1278:0.1089:0.1327:0.6306	2.896	0.05340	533	0.73433	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1084.98	36	chr1	12283702	.	T	G	1084.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.092e+00;DP=778;ExcessHet=0.0000;FS=3.901;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.96;ReadPosRankSum=1.29;SOR=0.291	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1468	20	0	1	0
chr1	12329888	12329888	T	G	exonic	VPS13D	.	nonsynonymous SNV	VPS13D:NM_015378:exon37:c.T8257G:p.S2753A	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.994	D	0.97	D	0.000	D	1.000	D	1.075	L	0.8	T	-0.931	T	0.185	T	0.619	2.287	13.61	5.76	2.323	7.285	16.379	0.138	0.00461064539889	.	.	8.245e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs770734153	1.368e-06	1.368e-06	0	2.75e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.64786	D	0.002	0.09854	B	0.006	0.16460	B	0.000001	0.62929	D	0.101713	0.999997	0.58761	D	1.475	0.37068	L	.	.	.	.	.	.	0.583	0.64818	-0.9312	0.43963	T	0.185	0.53496	T	10	0.24350363	0.41565	T	0.004611	0.11409	T	.	.	0.453	0.51612	0.043077524339	0.03247	0.5333756168356184	0.53262	.	.	0.772286057472	0.77768	T	0.079745	0.36201	T	0.0960119	0.63858	D	-0.099862	0.63408	T	0.841878413810794	0.49481	D	0.856914	0.54589	D	0.14174919	0.32649	0.19423567	0.43036	0.14174919	0.32649	0.19423567	0.43035	-4.844	0.35464	T	0.6125893004765262	0.68030	0.105	0.19276	B	.;.	.;.	3.731354	0.53380	23.4	0.9687719170063096	0.31442	0.99055	0.90567	D	AEFBI	0.752490	0.69297	D	0.127517082509726	0.47749	2.996338	0.296868189892344	0.55357	3.698744	0.999999854027001	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.76	5.76	0.90726	7.212000	0.77445	7.941000	0.75483	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.379	0.83266	220	0.91454	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1364.98	41	chr1	12329888	.	T	G	1364.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.020e-01;DP=830;ExcessHet=0.0000;FS=3.150;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.34;ReadPosRankSum=1.13;SOR=1.000	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1262	20	0	1	0
chr1	12363180	12363180	G	A	exonic	VPS13D	.	nonsynonymous SNV	VPS13D:NM_018156:exon51:c.G10306A:p.V3436I	.	.	434	1086	2	0	0	2	0.000919963	.	.	1931040	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.46	T	0.067	B	0.026	B	0.079	N	1.000	D	1.295	L	1.56	T	-1.084	T	0.047	T	0.101	1.617	11.36	2.17	0.457	1.096	4.798	0.011	0.00424919119436	.	0.00139776	0.0004	0	0.0002	0	0	2.997e-05	0.0055	0.0024	0.0003622	56	154602	rs535010889	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	2.987e-05	0	0	0	0	0.0005	9.892e-06	0.0003	0.0027	0.0002	0.0002	7.709e-05	0.0002	0.0044	0.0001	9.234e-05	0.0029	0.0025	2.406e-05	0	6.534e-05	0	0	0	0	1.47e-05	0	0.0044	.	.	.	0.189	0.28860	T	0.03	0.20002	B	0.015	0.17295	B	0.078755	0.21025	N	0.551716	0.992996	0.23790	N	0.895	0.22405	L	.	.	.	.	.	.	0.229	0.25745	-1.0840	0.06591	T	0.047	0.20037	T	10	0.0063723624	0.00144	T	0.004249	0.10278	T	.	.	.	.	0.043077524339	0.03247	0.1618884665741051	0.16109	.	.	0.423670649529	0.28342	T	0.098376	0.40213	T	-0.542774	0.00322	T	-0.557671	0.16595	T	0.0198916656737895	0.00690	T	0.819918	0.47811	T	0.015818689	0.00159	0.026552517	0.00751	0.015818689	0.00159	0.026552517	0.00751	-2.58	0.06352	T	0.2136695256181633	0.28695	0.069	0.03128	B	.;.	.;.	1.759436	0.22383	15.60	0.93623820283465697	0.23493	0.79581	0.39462	D	AEFBI	0.066238	0.12960	N	-0.542716436094394	0.20713	1.093917	-0.40216717585535	0.24933	1.368219	0.784747783436277	0.23909	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.06	2.17	0.26736	1.149000	0.31238	1.540000	0.27221	-0.119000	0.14319	0.867000	0.30739	0.910000	0.28117	0.888000	0.42677	0.2571:0.0:0.5168:0.2262	4.798	0.12649	165	0.93588	Vacuolar protein sorting-associated protein 13, SHR-binding domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1505.98	34	chr1	12363180	.	G	A	1505.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.160;DP=832;ExcessHet=0.0000;FS=0.623;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=-1.220e+00;SOR=0.766	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1286	20	0	1	0
chr1	12617183	12617183	G	A	exonic	DHRS3	.	nonsynonymous SNV	DHRS3:NM_004753:exon1:c.C166T:p.R56C,	.	.	406	1113	3	0	0	3	0.0013459	.	.	3202112	DHRS3-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.999	D	0.94	D	0.000	D	1.000	D	2.3	M	-2.63	D	0.711	D	0.806	D	0.593	3.049	16.17	4.92	2.252	0.941	11.925	0.648	0.432412456184	0.0025	0.000199681	0.0024	0.0007	0.0013	0	0.0002	0.0038	0.0035	0.0010	0.002141	331	154602	rs148358973	0.0028	0.0028	0.0028	0.0028	0.0032	0.0027	0.0027	0.0031	0.0030	0.0003	0.0016	0.0065	0	0.0005	0.0029	0.0032	0.0026	0.0010	0.0022	0.0022	0.0023	0.0020	0.0036	0.0020	0.0019	0.0032	0.0031	0.0003	0	0.0016	0.0075	0.0002	0.0007	0	0.0036	0.0043	0.0006	.	.	.	0.041	0.50514	D	0.895	0.49247	P	0.448	0.46037	P	0.000002	0.62929	D	0.098899	0.999917	0.51042	D	2.61	0.76335	M	.	.	.	.	.	.	0.491	0.52475	0.711	0.93310	D	0.806	0.93432	D	10	0.016029507	0.00337	T	0.432412	0.94007	D	.	.	.	.	0.642720413867	0.63976	0.6270243248523132	0.62635	.	.	0.696694374084	0.66667	T	0.573129	0.85899	D	-0.254928	0.13501	T	-0.140752	0.60053	T	0.0448356593784612	0.04572	T	0.96937	0.88985	D	0.22886197	0.45613	0.09869273	0.23539	0.22886197	0.45613	0.09869273	0.23538	-6.268	0.48469	T	.	.	0.223	0.45446	B	.	.	3.963210	0.58142	23.9	0.9972563379866346	0.82406	0.82313	0.41559	D	ALL	0.550964	0.56323	D	0.418375672752341	0.62433	4.45908	0.414760370109962	0.62484	4.464505	0.999999999957088	0.74766	0.733237	0.96898	0	0.609123	0.50646	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	4.92	4.92	0.64147	1.087000	0.30476	8.060000	0.76395	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.7054:0.2946	11.925	0.52098	843	0.36859	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	687.98	35	chr1	12617183	.	G	A	687.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.14;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.58;ReadPosRankSum=0.895;SOR=0.660	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1079	20	0	1	0
chr1	12617260	12617260	G	C	exonic	DHRS3	.	nonsynonymous SNV	DHRS3:NM_004753:exon1:c.C89G:p.P30R,	.	.	418	1103	1	0	0	1	0.000453104	.	.	3205886	DHRS3-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.07	T	0.828	P	0.462	P	0.000	D	1.000	D	0	N	-1.81	D	-0.084	T	0.408	T	0.85	2.875	15.58	5.05	2.322	8.068	17.392	0.677	.	.	0.00379393	0.0017	0	8.711e-05	0	0	0	0	0.0121	0.0014424	223	154602	rs201969624	0.0007	0.0007	0.0004	0.0009	0.0105	0.0006	0.0006	0.0099	0.0097	0	2.236e-05	0	0	0	0.0002	1.799e-06	0.0007	0.0105	0.0004	0.0004	0.0002	0.0006	0.0114	0.0003	0.0003	0.0090	0.0081	2.405e-05	0	0	0	0	0	0	0	0	0.0114	.	.	.	0.309	0.19782	T	0.049	0.22227	B	0.026	0.20792	B	0.000030	0.55875	D	0.161574	1	0.81001	D	0	0.06538	N	.	.	.	.	.	.	0.809	0.80473	-0.0836	0.80473	T	0.408	0.75755	T	10	0.0089383125	0.00202	T	.	.	.	.	.	0.514	0.61307	0.732522252441	0.73014	0.6734769297853236	0.67285	.	.	0.785039544106	0.79689	T	0.537696	0.84114	D	0.0143206	0.53614	T	0.258182	0.86007	D	0.175289324701182	0.18933	T	0.784022	0.42156	T	0.49588695	0.66852	0.48465723	0.70169	0.49588695	0.66853	0.48465723	0.70169	-8.353	0.63451	D	.	.	0.256	0.49038	B	.	.	4.503553	0.70462	25.5	0.9815845267713641	0.38755	0.92451	0.55742	D	ALL	0.938801	0.93850	D	0.105087753481729	0.46700	2.906372	0.292643043109012	0.55109	3.674321	1.0	0.98316	0.733237	0.96898	0	0.706955	0.78570	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	5.05	5.05	0.67566	8.466000	0.90239	11.240000	0.90396	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.392	0.87323	843	0.36859	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1247.98	35	chr1	12617260	.	G	C	1247.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.341;DP=853;ExcessHet=0.0000;FS=2.266;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.83;ReadPosRankSum=-2.610e-01;SOR=0.892	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1079	20	0	1	0
chr1	12760875	12760875	C	T	exonic	C1orf158	.	nonsynonymous SNV	C1orf158:NM_001330361:exon3:c.C395T:p.P132L	.	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.996	D	0.68	P	0.000	D	0.858	N	2.395	M	0.55	T	-0.663	T	0.234	T	0.775	3.157	16.56	3.82	1.181	1.219	10.036	0.275	0.0149375205168	0.0022	0.00179712	0.0038	0.0002	0.0014	0.0001	0.0097	0.0035	0.0022	0.0082	0.0034346	531	154602	rs41301981	0.0042	0.0042	0.0041	0.0043	0.0074	0.0041	0.0041	0.0070	0.0068	0.0005	0.0014	0.0025	0.0002	0.0083	0.0040	0.0042	0.0036	0.0074	0.0030	0.0030	0.0029	0.0031	0.0046	0.0028	0.0027	0.0034	0.0033	0.0007	0	0.0016	0.0017	0.0002	0.0107	0	0.0038	0.0019	0.0046	0.004	0.65419	D	0.005	0.72224	D	.	.	.	.	.	.	0.000048	0.53742	D	0.124483	0.858323	0.28394	N	.	.	.	0.48	0.55945	T	-5.23	0.83899	D	0.242	0.31365	-0.6626	0.62161	T	0.234	0.60014	T	10	0.006723851	0.00153	T	0.014938	0.35377	T	0.275	0.59130	.	.	0.596874347621	0.59366	0.5815188365855514	0.58080	.	.	.	.	.	0.160	0.50353	T	-0.232943	0.16262	T	-0.102677	0.63191	T	0.0520408181286664	0.05854	T	0.736726	0.35329	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.15475	B	.;.	.;.	2.227671	0.28431	17.80	0.99407360430030645	0.63122	0.14952	0.18669	N	AEFDBCI	0.030239	0.03006	N	-0.0848517175232888	0.38057	2.223174	-0.28638568233349	0.28547	1.592503	2.45583534364123E-4	0.06141	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.75	3.82	0.43153	0.953000	0.28759	1.234000	0.25062	0.599000	0.40250	0.014000	0.18986	0.616000	0.25792	0.023000	0.12082	0.2014:0.7986:0.0:0.0	10.036	0.41303	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1392.98	34	chr1	12760875	.	C	T	1392.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.855;DP=822;ExcessHet=0.0000;FS=0.670;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=0.055;SOR=0.824	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1205	20	0	1	0
chr1	12777268	12777268	G	A	exonic	PRAMEF12	.	nonsynonymous SNV	PRAMEF12:NM_001080830:exon3:c.G1121A:p.R374H,	.	.	424	1091	7	0	0	7	0.00319781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.37	B	0.059	B	0.678	N	1.000	N	0.47	N	2.97	T	-0.975	T	0.015	T	0.025	1.072	9.379	-5.07	-1.230	-0.418	10.483	0.060	.	0.0002	0.00778754	0.0036	9.61e-05	0.0002	0.0001	0	0.0002	0.0011	0.0253	0.0031953	494	154602	rs200147207	0.0015	0.0015	0.0009	0.0022	0.0225	0.0015	0.0014	0.0217	0.0214	2.992e-05	0.0001	0	2.519e-05	0	0.0007	0.0001	0.0019	0.0225	0.0008	0.0009	0.0006	0.0011	0.0234	0.0007	0.0007	0.0199	0.0186	4.814e-05	0	0.0001	0	0.0002	0	0.0034	0.0001	0.0005	0.0234	0.566	0.06262	T	0.401	0.14961	T	0.37	0.34076	B	0.059	0.26602	B	0.678136	0.06076	N	1.164400	0.999688	0.20694	N	0.865	0.21413	L	2.97	0.09450	T	-1.57	0.37955	N	0.022	0.00372	-0.9753	0.36059	T	0.015	0.05946	T	10	0.008863747	0.00201	T	.	.	.	0.060	0.17295	.	.	0.0920862733494	0.08535	0.1834787494898176	0.18266	0.0334400944667	0.03497	0.207179114223	0.00697	T	0.003979	0.03393	T	-0.77426	0.00012	T	-0.866694	0.00774	T	0.0104976695965112	0.00145	T	0.608239	0.22965	T	0.025568908	0.01510	0.049385864	0.07536	0.025568908	0.01510	0.049385864	0.07535	-4.995	0.36786	T	.	.	0.085	0.10062	B	.	.	0.320703	0.06954	3.500	0.80431122992526194	0.13200	0.01878	0.05780	N	AEFBI	0.021757	0.01005	N	-1.20391572644976	0.04942	0.2241708	-1.32423841560855	0.04119	0.1936109	4.2027368328228E-4	0.06899	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.72	-5.07	0.02717	-1.075000	0.03534	-20.000000	0.00162	0.569000	0.28856	0.000000	0.06391	0.000000	0.08366	0.171000	0.21011	0.2543:0.0:0.7457:0.0	10.483	0.43889	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3821.98	34	chr1	12777268	.	G	A	3821.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.349;DP=1273;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.69;MQRankSum=0.131;QD=14.70;ReadPosRankSum=0.244;SOR=0.699	GT:AD:DP:GQ:PL	0/0:336,0:336:99:0,120,1800	20	0	1	0
chr1	12794137	12794137	G	A	exonic	PRAMEF1	.	stopgain	PRAMEF1:NM_023013:exon3:c.G510A:p.W170X,	.	.	438	1068	14	2	0	18	0.00835655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.002	N	1.000	N	.	.	.	.	.	.	.	.	.	2.953	15.84	1.74	1.273	1.481	6.956	.	.	.	0.000199681	3.32e-05	0.0002	8.642e-05	0	0	0	0	6.069e-05	3.84e-05	1	26028	rs576609145	0.0003	0.0011	0.0002	0.0004	0.0019	0.0003	0.0003	0.0017	0.0016	0	0.0006	0.0003	0.0016	0.0002	0.0002	0.0001	0.0003	0.0019	0.0023	0.0092	0.0023	0.0024	0.0074	0.0021	0.0020	0.0054	0.0047	0.0007	0	0.0025	0.0015	0.0048	0.0021	0	0.0028	0.0035	0.0074	.	.	.	.	.	.	.	.	.	.	.	.	0.001734	0.38161	N	0.234704	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.015	0.00181	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0542977	0.58895	T	0.0768869	0.75369	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	6.150114	0.94673	34	0.98770900261027439	0.45971	0.03351	0.08438	N	AEFI	0.028738	0.02587	N	-0.00152480262650556	0.41786	2.505716	-0.392103728872145	0.25230	1.386319	3.21845939223488E-5	0.03775	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.74	1.74	0.23636	1.643000	0.36833	0.273000	0.16680	0.481000	0.22134	0.019000	0.19563	0.000000	0.08366	0.003000	0.05239	0.0:0.0:1.0:0.0	6.956	0.23754	888	0.27761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	373.98	37	chr1	12794137	.	G	A	373.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.19;DP=1306;ExcessHet=0.0000;FS=29.806;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.60;MQRankSum=-6.274e+00;QD=2.19;ReadPosRankSum=-3.120e-01;SOR=3.097	GT:AD:DP:GQ:PL	0/1:145,26:171:99:388,0,4145	20	0	1	0
chr1	12794474	12794474	C	T	exonic	PRAMEF1	.	nonsynonymous SNV	PRAMEF1:NM_023013:exon3:c.C847T:p.H283Y,	.	.	440	1058	22	2	0	26	0.0121382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.001	B	0.008	B	0.959	N	1.000	N	1.56	L	5.51	T	-0.939	T	0.004	T	0.263	-1.320	0.033	-2.06	-0.574	-2.385	5.402	0.025	0.00164612907533	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200215746	5.423e-05	0.0010	2.185e-05	8.694e-05	0.0004	4.425e-05	4.096e-05	0.0003	0.0003	0	6.738e-05	0	0.0003	0	0.0004	2.345e-05	0	0.0004	0.0008	0.0066	0.0007	0.0009	0.0018	0.0007	0.0006	0.0010	0.0007	0.0002	0	0.0012	0.0015	0.0018	0.0013	0	0.0008	0.0005	0.0016	0.488	0.08042	T	0.373	0.16328	T	0.001	0.07471	B	0.008	0.13708	B	0.959497	0.07708	N	1.018660	1	0.08975	N	2.05	0.56469	M	5.51	0.00912	T	-3.0	0.62343	D	0.173	0.18512	-0.9386	0.42837	T	0.004	0.01226	T	10	0.059375614	0.07129	T	0.001646	0.02676	T	0.025	0.05312	.	.	0.0884992946249	0.08302	0.1587466601454392	0.15795	0.41441442246	0.42123	0.526407063007	0.42528	T	0.012055	0.10661	T	-0.298545	0.08798	T	-0.666616	0.07827	T	0.0575446023762822	0.06776	T	0.340666	0.07366	T	0.023380632	0.01074	0.03212981	0.01901	0.023380632	0.01074	0.03212981	0.01901	-5.053	0.37410	T	.	.	0.097	0.15921	B	.	.	-0.595727	0.01583	0.106	0.29657303040791788	0.01584	0.00119	0.00751	N	AEFI	0.024797	0.01593	N	-1.63891141640117	0.01082	0.04698796	-1.76594649224929	0.00875	0.03909194	2.37417213051124E-5	0.03498	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.61	-2.06	0.06894	-2.140000	0.01387	-13.865000	0.00434	-3.082000	0.00127	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4901:0.0:0.5099	5.402	0.15599	888	0.27761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	318.15	37	chr1	12794474	.	C	T	318.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.249;DP=1058;ExcessHet=0.0000;FS=2.884;InbreedingCoeff=-0.0303;MLEAC=1;MLEAF=0.024;MQ=57.06;MQRankSum=-8.192e+00;QD=4.61;ReadPosRankSum=-2.825e+00;SOR=1.267	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,12:69:99:0|1:12794470_T_C:332,0,2347:12794470	20	0	1	0
chr1	12827262	12827262	C	T	exonic	PRAMEF11	.	nonsynonymous SNV	PRAMEF11:NM_001146344:exon3:c.G862A:p.D288N,	.	.	435	1075	11	1	0	13	0.00601017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	1.0	D	0.999	D	0.023	N	1.000	N	1.43	L	0.7	T	-0.970	T	0.160	T	0.153	1.141	9.650	-0.767	-0.222	-0.033	2.463	0.079	0.0020403768286	.	.	0.0342	0.0093	0.0300	0.0593	0.0240	0.0328	0.0428	0.0527	3.84e-05	1	26028	rs200433298	0.0014	0.0085	0.0015	0.0014	0.0029	0.0014	0.0013	0.0025	0.0023	0.0003	0.0004	0.0006	0.0029	0.0002	0.0007	0.0015	0.0010	0.0021	0.0018	0.0064	0.0016	0.0019	0.0044	0.0016	0.0015	0.0029	0.0025	0.0004	0	0.0020	0.0015	0.0044	0.0016	0.0035	0.0024	0.0015	0.0029	.	.	.	0.179	0.29540	T	.	.	.	.	.	.	0.023064	0.26512	N	0.418720	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.099	0.08088	-0.9702	0.37157	T	0.160	0.49397	T	10	0.0064775944	0.00147	T	.	.	.	.	.	.	.	.	.	0.47475788662323853	0.47394	.	.	0.553157448769	0.46302	T	.	.	.	-0.214735	0.18716	T	-0.546228	0.17689	T	0.0339721825560061	0.02633	T	.	.	.	0.022219915	0.00871	0.029012373	0.01194	0.022219915	0.00870	0.029012373	0.01193	-3.481	0.16167	T	.	.	0.138	0.30184	B	.	.	1.385293	0.17971	13.48	0.99206464986899356	0.55442	0.00638	0.02794	N	AEFI	0.022082	0.01060	N	-0.65285066657418	0.17378	0.8936733	-0.931906158830225	0.11343	0.5773011	1.21757686836682E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.48	-0.767	0.10461	-0.202000	0.09453	-8.585000	0.00945	-0.380000	0.05395	0.015000	0.19116	0.000000	0.08366	0.003000	0.05239	0.0:0.4293:0.3252:0.2455	2.463	0.04268	911	0.21964	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	163.98	91	chr1	12827262	.	C	T	163.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.400e-01;DP=2295;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=34.74;MQRankSum=-6.069e+00;QD=1.27;ReadPosRankSum=0.489;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,13:129:99:0|1:12827262_C_T:178,0,4668:12827262	20	0	1	0
chr1	12827504	12827504	T	G	exonic	PRAMEF11	.	nonsynonymous SNV	PRAMEF11:NM_001146344:exon3:c.A620C:p.D207A,	.	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	.	.	.	.	0.847	N	1.000	N	1.14	L	2.33	T	-0.966	T	0.035	T	0.238	0.009	4.063	0.151	0.026	-0.278	4.247	0.024	0.000807688610383	.	0.00259585	0.0066	0.0021	0.0026	0	0.0076	0.0099	0.0079	0.0019	0.0054462	842	154602	rs199735292	0.0085	0.0085	0.0087	0.0083	0.0101	0.0084	0.0083	0.0099	0.0099	0.0015	0.0020	0.0009	2.534e-05	0.0080	0.0017	0.0101	0.0066	0.0023	0.0067	0.0067	0.0073	0.0060	0.0104	0.0064	0.0062	0.0097	0.0095	0.0014	0.1044	0.0021	0.0023	0.0006	0.0094	0	0.0104	0.0019	0.0030	.	.	.	0.088	0.40586	T	.	.	.	.	.	.	0.846699	0.07032	N	1.070770	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.339	0.38027	-1.0357	0.18637	T	0.085	0.33241	T	10	0.0035685897	0.00064	T	.	.	.	.	.	.	.	0.0954503805726	0.09146	0.40119644950782735	0.40034	.	.	0.622940897942	0.56144	T	.	.	.	-0.401773	0.02254	T	-0.340501	0.40286	T	0.031728995170636	0.02263	T	.	.	.	0.044987593	0.07285	0.03659959	0.03140	0.044987593	0.07285	0.03659959	0.03139	-9.145	0.68625	D	.	.	0.163	0.35890	B	.	.	1.322727	0.17269	13.06	0.98432758145970789	0.41420	0.00627	0.02761	N	AEFDI	0.020916	0.00876	N	-0.324940864453843	0.28204	1.553695	-0.621401454715815	0.18944	1.014246	2.65819391898374E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.48	1.48	0.21900	-0.450000	0.06877	-3.192000	0.02983	-0.226000	0.07819	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.0:0.0:1.0	5.132	0.14245	911	0.21964	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	6133.98	224	chr1	12827504	.	T	G	6133.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.57;DP=3633;ExcessHet=0.0000;FS=0.521;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.31;MQRankSum=0.569;QD=12.65;ReadPosRankSum=0.603;SOR=0.708	GT:AD:DP:GQ:PL	0/0:264,0:264:99:0,120,1800	20	0	1	0
chr1	12828688	12828688	G	-	exonic	PRAMEF11	.	frameshift deletion	PRAMEF11:NM_001146344:exon2:c.102delC:p.T35Qfs*20,	.	.	427	1077	16	2	0	20	0.00919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0010	0	0	0	0	4.512e-05	0.0033	0.0073	0.0001921	5	26028	rs532778473	0.0005	0.0005	0.0003	0.0007	0.0072	0.0005	0.0004	0.0067	0.0065	0	2.243e-05	0	0	0	0.0030	3.693e-05	0.0006	0.0072	0.0002	0.0002	6.448e-05	0.0003	0.0053	0.0001	9.737e-05	0.0037	0.0031	0	0	0	0	0	0	0	0	0	0.0053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2232.94	34	chr1	12828687	.	TG	T	2232.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.284;DP=948;ExcessHet=0.0000;FS=3.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.94;MQRankSum=-1.629e+00;QD=13.29;ReadPosRankSum=0.504;SOR=0.656	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,114,1710	20	0	1	0
chr1	12848015	12848015	C	T	exonic	HNRNPCL1	.	nonsynonymous SNV	HNRNPCL1:NM_001013631:exon2:c.G275A:p.R92Q,	.	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.446	B	0.053	B	0.000	U	1.000	N	2.58	M	0.95	T	-1.028	T	0.087	T	0.16	0.957	8.904	-1.91	-0.877	1.003	3.860	0.143	0.00200890558545	.	.	9.884e-05	0	0.0002	0	0	1.498e-05	0	0.0005	8.41e-05	13	154602	rs540095399	1.647e-05	1.712e-05	2.185e-05	1.104e-05	0.0002	1.114e-05	9.36e-06	5.937e-05	4.039e-05	0	0.0001	0	0	0	0.0002	1.442e-05	1.662e-05	0	1.998e-05	1.978e-05	0	4.1e-05	4.438e-05	5.31e-06	2.47e-06	1.178e-05	6.27e-06	0	0	0	0	0	0	0	4.438e-05	0	0	0.075	0.34444	T	0.019	0.59159	D	0.446	0.35981	B	0.053	0.25678	B	0.000009	0.62929	U	0.000000	1	0.08975	N	.	.	.	0.95	0.43279	T	-2.7	0.57599	D	0.122	0.11340	-1.0279	0.21136	T	0.087	0.33857	T	10	0.096250236	0.17251	T	0.002009	0.03642	T	0.143	0.38195	0.487	0.57098	0.151104730317	0.14643	0.3075516662359546	0.30668	0.0444259073386	0.04792	0.450120717287	0.31961	T	0.068337	0.33431	T	-0.196346	0.21333	T	-0.519814	0.20313	T	0.221788719296455	0.21553	T	.	.	.	0.087507375	0.20380	0.07709837	0.17141	0.087507375	0.20379	0.07709837	0.17141	-10.694	0.77953	D	.	.	0.170	0.37274	B	.	.	1.091120	0.14746	11.29	0.94322732126570141	0.24650	0.01278	0.04465	N	AEFDGBI	0.025068	0.01654	N	-1.09510073288079	0.06733	0.3107906	-1.30450467543649	0.04371	0.2060472	1.18223938250994E-4	0.05269	0.693126	0.56070	0	0.383324	0.06291	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	1.09	-1.91	0.07225	2.305000	0.43324	-4.030000	0.02383	-2.121000	0.00385	0.952000	0.33172	0.000000	0.08366	0.000000	0.00833	0.2208:0.602:0.0:0.1772	3.860	0.08497	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3602.98	33	chr1	12848015	.	C	T	3602.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.35;DP=2119;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.61;MQRankSum=0.485;QD=13.30;ReadPosRankSum=1.29;SOR=0.669	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,120,1800	20	0	1	0
chr1	12859131	12859131	G	T	exonic	PRAMEF2	.	nonsynonymous SNV	PRAMEF2:NM_023014:exon2:c.G122T:p.R41M,	.	.	432	1072	15	3	0	21	0.00969977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.0	B	0.0	B	0.927	N	1.000	N	-2.145	N	3.78	T	-0.952	T	0.002	T	0.065	-2.658	0	-0.969	-1.161	-0.620	1.680	0.038	.	0.0047	0.034345	0.0232	0.0171	0.0169	0.0286	0.0153	0.0218	0.0255	0.0370	0.0011902	184	154602	rs1063757	0.0006	0.0054	0.0006	0.0006	0.0125	0.0006	0.0005	0.0115	0.0111	0.0125	0.0011	0.0003	0.0004	3.77e-05	0.0007	0.0002	0.0009	0.0013	0.0041	0.0092	0.0045	0.0037	0.0110	0.0038	0.0037	0.0102	0.0098	0.0110	0	0.0040	0.0018	0.0014	0.0004	0	0.0010	0.0039	0.0011	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.927202	0.07513	N	1.033810	1	0.08975	N	-2.515	0.00055	N	3.78	0.03836	T	3.69	0.00073	N	0.042	0.01498	-0.9516	0.40695	T	0.002	0.00676	T	10	0.0035119355	0.00063	T	.	.	.	0.038	0.09825	.	.	.	.	0.16272961513015843	0.16192	0.0450586555311	0.04875	0.626866281033	0.56701	T	0.001303	0.00783	T	-0.423607	0.01623	T	-0.846259	0.01009	T	0.0158424383179235	0.00371	T	.	.	.	0.05509354	0.10661	0.033169996	0.02169	0.05509354	0.10660	0.033169996	0.02169	2.333	0.00038	T	.	.	0.086	0.10931	B	.	.	-0.399165	0.02216	0.222	0.10683151292550398	0.00141	0.00034	0.00302	N	AEFI	0.011638	0.00107	N	-2.0091316525581	0.00202	0.008661477	-1.98797891654875	0.00325	0.01433613	2.64378383035506E-6	0.01202	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.842	-0.969	0.09783	-0.878000	0.04300	-3.491000	0.02746	-0.208000	0.08445	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3362:0.0:0.2959:0.3679	1.680	0.02660	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	61.98	37	chr1	12859131	.	G	T	61.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.86;DP=1168;ExcessHet=0.0000;FS=6.488;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.35;MQRankSum=-7.443e+00;QD=0.95;ReadPosRankSum=-1.553e+00;SOR=2.012	GT:AD:DP:GQ:PL	0/1:59,6:65:76:76,0,1574	20	0	1	0
chr1	12859142	12859142	A	C	exonic	PRAMEF2	.	nonsynonymous SNV	PRAMEF2:NM_023014:exon2:c.A133C:p.S45R,	.	.	434	1068	17	3	0	23	0.0106531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.0	B	0.003	B	0.146	N	1.000	N	1.64	L	3.54	T	-0.967	T	0.018	T	0.376	-0.461	1.869	-1.06	-0.293	-0.951	3.549	0.055	.	0.0007	.	0.0224	0.0065	0.0169	0.0287	0.0154	0.0220	0.0255	0.0370	1.94e-05	3	154602	rs148395681	0.0003	0.0058	0.0002	0.0004	0.0016	0.0003	0.0003	0.0014	0.0013	9.013e-05	0.0005	0.0005	0.0015	9.447e-05	0.0002	0.0002	0.0003	0.0016	0.0016	0.0078	0.0016	0.0016	0.0042	0.0015	0.0014	0.0027	0.0023	0.0004	0	0.0022	0.0021	0.0030	0.0013	0	0.0020	0.0020	0.0042	0.207	0.19854	T	0.197	0.27855	T	0.0	0.02946	B	0.003	0.08700	B	0.146375	0.02927	N	1.895630	1	0.08975	N	1.2	0.30300	L	3.54	0.04799	T	-1.82	0.42763	N	0.063	0.03502	-0.9667	0.37874	T	0.018	0.07518	T	10	0.0055422187	0.00122	T	.	.	.	0.055	0.15663	0.573	0.69695	.	.	0.24634982894860383	0.24548	0.0453201509487	0.04909	0.632463812828	0.57494	T	0.005646	0.05100	T	-0.244245	0.14813	T	-0.588617	0.13786	T	0.00384108233459228	0.00041	T	.	.	.	0.08908517	0.20803	0.1023203	0.24520	0.08908517	0.20803	0.1023203	0.24519	-5.848	0.44990	T	.	.	0.204	0.42877	B	.	.	0.234352	0.06155	2.600	0.4861215699616942	0.04071	0.00120	0.00751	N	AEFI	0.021374	0.00945	N	-1.17082364800591	0.05446	0.2482901	-1.32117409778244	0.04157	0.195488	1.31962910234648E-6	0.01202	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.842	-1.06	0.09491	-1.583000	0.02219	-14.080000	0.00422	0.646000	0.52725	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.5854:0.4146:0.0:0.0	3.549	0.07393	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	173.98	37	chr1	12859142	.	A	C	173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=1172;ExcessHet=0.0000;FS=7.324;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.37;MQRankSum=-7.658e+00;QD=2.60;ReadPosRankSum=-9.720e-01;SOR=1.885	GT:AD:DP:GQ:PL	0/1:57,10:67:99:188,0,1536	20	0	1	0
chr1	12881867	12881867	C	T	exonic	PRAMEF4	.	nonsynonymous SNV	PRAMEF4:NM_001009611:exon3:c.G862A:p.D288N,	.	.	437	1060	23	2	0	27	0.0125757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.999	D	0.023	N	1.000	N	1.08	L	0.7	T	-0.986	T	0.144	T	0.105	1.132	9.615	-0.89	-0.239	-0.503	3.037	0.051	0.00114698807214	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200956025	0.0026	0.0086	0.0024	0.0027	0.0064	0.0025	0.0025	0.0057	0.0055	0.0003	0.0019	0.0021	0.0064	0.0018	0.0022	0.0025	0.0026	0.0041	0.0028	0.0079	0.0032	0.0024	0.0041	0.0026	0.0025	0.0034	0.0032	0.0009	0	0.0034	0.0021	0.0037	0.0027	0	0.0038	0.0036	0.0041	0.16	0.23721	T	0.186	0.28860	T	1.0	0.90584	D	0.999	0.92359	D	0.023064	0.26512	N	0.418720	1	0.08975	N	1.62	0.41497	L	0.7	0.51474	T	-3.81	0.71882	D	0.278	0.31478	-0.9856	0.33687	T	0.144	0.46696	T	10	0.0845927	0.14194	T	0.001147	0.01434	T	0.051	0.14325	.	.	0.158396225186	0.15383	0.24433227600248794	0.24347	2.50878901569	0.97686	0.701608836651	0.67376	T	0.023709	0.18049	T	-0.275459	0.11156	T	-0.633454	0.10154	T	0.562671661376953	0.34956	D	.	.	.	0.023086784	0.01019	0.024811512	0.00508	0.023086784	0.01019	0.024811512	0.00508	-3.6	0.17857	T	.	.	0.126	0.26607	B	.	.	0.790309	0.11606	8.196	0.99289873868908907	0.58219	0.00254	0.01397	N	AEFI	0.020490	0.00814	N	-0.770649728458505	0.14080	0.6984676	-1.05249213120013	0.08655	0.4266333	1.25233174664961E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.48	-0.89	0.10041	-0.308000	0.08196	-11.230000	0.00623	-0.552000	0.04894	0.089000	0.22556	0.000000	0.08366	0.005000	0.06747	0.0:0.5146:0.2846:0.2008	3.037	0.05754	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	141.98	185	chr1	12881867	.	C	T	141.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.063e+00;DP=2213;ExcessHet=0.0000;FS=2.457;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=36.39;MQRankSum=-2.432e+00;QD=0.94;ReadPosRankSum=1.84;SOR=1.123	GT:AD:DP:GQ:PL	0/1:137,14:151:99:156,0,4057	20	0	1	0
chr1	12882032	12882032	T	A	exonic	PRAMEF4	.	nonsynonymous SNV	PRAMEF4:NM_001009611:exon3:c.A697T:p.M233L,	.	.	443	1070	9	0	0	9	0.00418799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.966	D	0.955	D	0.000	D	1.000	N	2.945	M	6.03	T	-1.036	T	0.008	T	0.443	1.860	12.18	1.48	0.939	0.506	5.132	0.109	0.000936699630294	0.0001	0.00119808	0.0004	0.0001	9.06e-05	0.0002	0	8.052e-05	0	0.0021	0.0002305	6	26028	rs369080299	0.0002	0.0002	0.0001	0.0003	0.0017	0.0002	0.0002	0.0015	0.0014	9.133e-05	9.219e-05	3.837e-05	7.634e-05	0	0.0007	8.764e-05	0.0003	0.0017	0.0001	0.0002	0.0001	0.0001	0.0018	7.906e-05	6.553e-05	0.0009	0.0006	5.169e-05	0	0	0	0	0	0.0035	0.0001	0	0.0018	0.014	0.53172	D	0.012	0.63918	D	0.966	0.56202	D	0.955	0.69585	D	0.000012	0.62929	D	0.114032	1	0.08975	N	3.35	0.91085	M	6.03	0.00597	T	-2.96	0.61722	D	0.45	0.48780	-1.0361	0.18513	T	0.008	0.02968	T	10	0.010457724	0.00233	T	9.37E-4	0.00934	T	0.109	0.30843	0.643	0.78010	0.0551355673512	0.04727	0.5472104662726296	0.54647	2.40020819914	0.97175	0.693356573582	0.66188	T	0.146359	0.48392	T	-0.151255	0.28116	T	-0.455044	0.27142	T	0.109405755677931	0.13361	T	.	.	.	0.3093651	0.53731	0.34743136	0.60397	0.3093651	0.53731	0.34743136	0.60396	-9.799	0.72699	D	.	.	0.364	0.57436	A	.	.	2.047840	0.26035	16.97	0.75431074848028712	0.11073	0.01712	0.05433	N	AEFI	0.022942	0.01212	N	-0.185740125614573	0.33726	1.916805	-0.520017858762252	0.21610	1.169851	2.65819391898374E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.48	1.48	0.21900	0.169000	0.16457	2.546000	0.33240	0.453000	0.21368	0.003000	0.16062	0.109000	0.22772	0.004000	0.06068	0.0:0.0:0.0:1.0	5.132	0.14245	952	0.10565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	5934.98	185	chr1	12882032	.	T	A	5934.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.56;DP=2736;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=51.55;MQRankSum=-3.792e+00;QD=14.62;ReadPosRankSum=-4.660e-01;SOR=0.726	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,117,1800	20	0	1	0
chr1	12893275	12893276	AG	-	exonic	PRAMEF10	.	frameshift deletion	PRAMEF10:NM_001039361:exon4:c.1065_1066del:p.L356Kfs*32,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.579e-06	6.568e-06	1.286e-05	0	6.574e-05	0	0	.	.	0	0	6.574e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	184.94	35	chr1	12893274	.	AAG	A	184.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.43;DP=1988;ExcessHet=0.0000;FS=2.061;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.16;MQRankSum=-5.388e+00;QD=1.11;ReadPosRankSum=-2.593e+00;SOR=0.853	GT:AD:DP:GQ:PL	0/0:211,0:211:99:0,120,1800	20	0	1	0
chr1	12893278	12893278	-	GT	exonic	PRAMEF10	.	frameshift insertion	PRAMEF10:NM_001039361:exon4:c.1062_1063insAC:p.V355Tfs*3,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.581e-06	6.568e-06	1.286e-05	0	6.577e-05	0	0	.	.	0	0	6.577e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	259.94	35	chr1	12893278	.	C	CGT	259.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.37;DP=1993;ExcessHet=0.0000;FS=2.051;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.07;MQRankSum=-5.717e+00;QD=1.46;ReadPosRankSum=-3.361e+00;SOR=0.857	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:211,0:211:99:.:.:0,120,1800	20	0	1	0
chr1	12893418	12893418	C	T	exonic	PRAMEF10	.	nonsynonymous SNV	PRAMEF10:NM_001039361:exon4:c.G923A:p.R308Q,	.	.	533	987	2	0	0	2	0.00101215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.029	B	0.004	B	0.160	N	1.000	N	1.385	L	2.92	T	-0.976	T	0.027	T	0.207	0.745	7.952	0.118	0.191	-1.754	.	0.025	0.00186055025547	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1222248348	0.0013	0.0025	0.0014	0.0011	0.0084	0.0012	0.0012	0.0076	0.0073	0.0084	0.0081	0.0016	0.0057	7.494e-05	0.0002	0.0007	0.0015	0.0006	0.0034	0.0067	0.0037	0.0032	0.0078	0.0032	0.0031	0.0066	0.0062	0.0071	0	0.0078	0.0006	0.0063	0.0007	0	0.0010	0.0024	0.0002	0.047	0.40319	D	0.17	0.30436	T	0.029	0.19866	B	0.004	0.10090	B	0.160214	0.03033	N	1.863970	1	0.08975	N	1.74	0.45129	L	2.92	0.09915	T	0.74	0.02038	N	0.037	0.01135	-0.9758	0.35948	T	0.027	0.11529	T	9	0.0068725646	0.00156	T	0.001861	0.03245	T	0.025	0.05312	0.5	0.59147	0.043077524339	0.03247	0.12019080704679257	0.11946	.	.	0.42577418685	0.28630	T	0.027798	0.20277	T	-0.326816	0.06355	T	-0.707225	0.05440	T	0.0116995585429261	0.00179	T	.	.	.	0.036324758	0.04446	0.04383545	0.05543	0.036324758	0.04446	0.04383545	0.05543	-4.08	0.24994	T	.	.	0.083	0.09433	B	.	.	-0.402195	0.02204	0.220	0.93064880838956954	0.22678	0.00171	0.01011	N	AEFI	0.024931	0.01623	N	-1.06655702787066	0.07267	0.3370423	-1.20122448548568	0.05891	0.2819779	1.11536234223363E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.118	0.118	0.13972	-3.580000	0.00474	-4.555000	0.02097	-2.542000	0.00250	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	81.98	187	chr1	12893418	.	C	T	81.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.23;DP=2906;ExcessHet=0.0000;FS=24.154;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=50.39;MQRankSum=-4.760e+00;QD=0.39;ReadPosRankSum=-2.287e+00;SOR=3.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:106,0:106:99:.:.:0,120,1800	20	0	1	0
chr1	12919851	12919851	G	A	splicing	PRAMEF7	NM_001012277:exon4:c.864-1G>A	.	.	.	.	877	644	0	1	0	2	0.00155039	1.0000	0.898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.775	11.90	1.68	1.242	3.349	9.375	.	.	.	.	8.248e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs199770514	0.0025	0.0070	0.0021	0.0029	0.0114	0.0025	0.0024	0.0107	0.0104	0.0007	0.0028	0.0025	0.0085	0.0018	0.0023	0.0016	0.0028	0.0114	0.0003	0.0046	0.0003	0.0003	0.0012	0.0002	0.0002	0.0003	0.0002	0.0003	0	0.0004	0	0.0012	0.0003	0	0.0002	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0702418	0.41289	T	-0.338674	0.40494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	2.662730	0.34696	19.70	0.97373563797846296	0.33637	0.47059	0.27898	N	AEFI	.	.	.	0.491650854872737	0.66601	4.971257	0.152247568033959	0.47260	2.959018	1.70053872581964E-5	0.02871	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0896902	0.20274	1.68	1.68	0.23219	3.640000	0.54086	1.582000	0.27480	0.320000	0.19365	0.517000	0.27088	0.309000	0.24262	0.006000	0.07323	0.0:0.0:1.0:0.0	9.375	0.37437	964	0.07719	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	110.96	36	chr1	12919851	.	G	A	110.96	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=344;ExcessHet=0.0000;FS=6.021;InbreedingCoeff=-0.0460;MLEAC=1;MLEAF=0.026;MQ=25.63;MQRankSum=-3.190e-01;QD=27.74;ReadPosRankSum=0.319;SOR=2.788	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,3:4:33:0|1:12919845_C_T:123,0,33:12919845	18	0	1	2
chr1	12919865	12919865	T	C	exonic	PRAMEF7	.	nonsynonymous SNV	PRAMEF7:NM_001012277:exon4:c.T877C:p.S293P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.002	B	0.000	N	1.000	N	-1.15	N	5.35	T	-0.912	T	0.001	T	0.156	-1.374	0.026	1.68	0.277	0.333	6.411	0.101	0.0026337940387	.	.	.	.	.	.	.	.	.	.	0.0001488	23	154602	rs200741009	0.0028	0.0070	0.0024	0.0032	0.0130	0.0027	0.0027	0.0122	0.0119	0.0009	0.0038	0.0024	0.0091	0.0021	0.0019	0.0018	0.0033	0.0130	0.0002	0.0041	0.0001	0.0002	0.0011	0.0001	8.75e-05	0.0002	8.235e-05	0.0003	0	0.0002	0	0.0005	0.0002	0	0.0001	0	0.0011	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.06944	B	0.000011	0.62929	N	0.066123	0.999999	0.08975	N	-1.71	0.00345	N	5.35	0.01058	T	4.82	0.00027	N	0.192	0.21056	-0.9122	0.46582	T	0.001	0.00438	T	10	0.064653784	0.08607	T	0.002634	0.05349	T	0.101	0.28911	.	.	0.158396225186	0.15383	0.25308466352116044	0.25222	.	.	0.501503288746	0.39037	T	0.043881	0.26642	T	-0.321179	0.06801	T	-0.699128	0.05874	T	0.0665859282016754	0.08163	T	.	.	.	0.1624676	0.36324	0.17664526	0.40213	0.1624676	0.36324	0.17664526	0.40212	0.877	0.00148	T	.	.	0.037	0.00007	B	.;.	.;.	0.037642	0.04546	1.237	0.81474547889342031	0.13703	0.00020	0.00220	N	AEFI	0.009686	0.00059	N	-1.55856231072618	0.01485	0.06483202	-1.4973977514051	0.02366	0.10869	2.01611720251108E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.68	1.68	0.23219	0.455000	0.21555	-15.000000	0.00376	-0.699000	0.04065	0.050000	0.21411	0.000000	0.08366	0.002000	0.04165	0.0:0.8267:0.0:0.1733	6.411	0.20895	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	42.12	36	chr1	12919865	.	T	C	42.12	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.310e-01;DP=341;ExcessHet=0.0000;FS=4.771;InbreedingCoeff=-0.0542;MLEAC=1;MLEAF=0.026;MQ=27.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=0.967;SOR=2.225	GT:AD:DP:GQ:PL	0/1:1,2:3:36:54,0,36	18	0	1	2
chr1	12938964	12938964	T	G	exonic	PRAMEF6	.	nonsynonymous SNV	PRAMEF6:NM_001010889:exon4:c.A1142C:p.N381T,	.	.	447	1062	13	0	0	13	0.00608329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.124	N	1.000	N	-1.725	N	3.31	T	-0.992	T	0.004	T	0.047	-3.282	0.001	-3.05	-2.049	-1.950	0.905	0.014	0.000621338657317	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201631675	0.0022	0.0094	0.0020	0.0023	0.0054	0.0021	0.0021	0.0048	0.0046	0.0003	0.0021	0.0016	0.0054	0.0022	0.0010	0.0020	0.0019	0.0041	0.0026	0.0072	0.0026	0.0026	0.0059	0.0024	0.0023	0.0040	0.0034	0.0006	0.0012	0.0025	0.0023	0.0059	0.0027	0.0045	0.0034	0.0044	0.0037	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.123610	0.02748	N	1.746340	1	0.08975	N	-1.89	0.00245	N	3.31	0.06291	T	1.42	0.00815	N	0.06	0.03175	-0.9921	0.32063	T	0.004	0.01295	T	10	0.011857927	0.00257	T	6.21E-4	0.00303	T	0.014	0.01968	.	.	0.043077524339	0.03247	0.20607784330617418	0.20524	1.6646576861	0.89749	0.555773258209	0.46670	T	0.004593	0.03998	T	-0.450818	0.01117	T	-0.885346	0.00611	T	0.0587845897810647	0.06975	T	.	.	.	0.03359858	0.03609	0.023313466	0.00345	0.03359858	0.03609	0.023313466	0.00345	-0.28	0.00464	T	.	.	0.070	0.03811	B	.;.	.;.	-1.271123	0.00463	0.010	0.093876461078483311	0.00095	0.00113	0.00716	N	AEFI	0.019146	0.00639	N	-2.30980553299486	0.00043	0.001851056	-2.30538676942165	0.00064	0.002832538	4.12391218167745E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-3.05	0.05069	-1.904000	0.01684	-20.000000	0.00162	-3.700000	0.00065	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2517:0.3882:0.1632:0.1968	0.905	0.01201	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	106.98	55	chr1	12938964	.	T	G	106.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.763e+00;DP=962;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=26.75;MQRankSum=-3.276e+00;QD=0.94;ReadPosRankSum=-1.525e+00;SOR=0.019	GT:AD:DP:GQ:PL	0/1:101,13:114:99:121,0,2773	20	0	1	0
chr1	12939007	12939007	C	T	exonic	PRAMEF6	.	nonsynonymous SNV	PRAMEF6:NM_001010889:exon4:c.G1099A:p.V367I,	.	.	481	1040	1	0	0	1	0.000480538	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.204	B	0.178	B	0.030	N	1.000	N	0.37	N	2.96	T	-1.006	T	0.016	T	0.132	0.387	6.099	-3.05	-0.858	-0.174	9.378	0.014	0.00109688161469	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201465736	0.0002	0.0022	0.0002	0.0003	0.0018	0.0002	0.0002	0.0015	0.0014	0	0.0002	0.0003	0.0018	0.0010	0.0005	0.0001	0.0003	0.0008	0.0014	0.0058	0.0015	0.0013	0.0031	0.0012	0.0012	0.0017	0.0013	0.0004	0	0.0017	0.0016	0.0024	0.0017	0	0.0016	0.0031	0.0031	0.025	0.47320	D	0.142	0.33330	T	0.037	0.20876	B	0.033	0.22329	B	0.029716	0.25414	N	0.355560	1	0.08975	N	1.325	0.33218	L	2.96	0.09542	T	0.45	0.03191	N	0.118	0.10769	-1.0064	0.28034	T	0.016	0.06569	T	10	0.023461252	0.00615	T	0.001097	0.01312	T	0.014	0.01968	.	.	0.043077524339	0.03247	0.2025716690766436	0.20174	1.43186678374	0.85819	0.668855369091	0.62674	T	0.010179	0.09213	T	-0.3336	0.05843	T	-0.71697	0.04944	T	0.239004150032997	0.22373	T	.	.	.	0.02327229	0.01054	0.03592122	0.02936	0.02327229	0.01053	0.03592122	0.02936	-3.498	0.16403	T	.	.	0.114	0.22861	B	.;.	.;.	-0.357351	0.02378	0.261	0.8384587250085328	0.14952	0.00304	0.01615	N	AEFI	0.023539	0.01327	N	-1.44322450188685	0.02271	0.1000831	-1.57197300288972	0.01829	0.0833124	5.11991388303926E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-3.05	0.05069	0.033000	0.13642	-20.000000	0.00162	-2.151000	0.00373	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.0:0.6713:0.3287:0.0	9.378	0.37458	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	51.98	55	chr1	12939007	.	C	T	51.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.990e-01;DP=897;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=26.40;MQRankSum=-9.780e-01;QD=0.76;ReadPosRankSum=0.865;SOR=0.012	GT:AD:DP:GQ:PL	0/1:62,6:68:66:66,0,1727	20	0	1	0
chr1	12939019	12939019	T	C	exonic	PRAMEF6	.	nonsynonymous SNV	PRAMEF6:NM_001010889:exon4:c.A1087G:p.I363V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.0	B	0.0	B	0.000	N	1.000	N	-0.77	N	3.1	T	-0.981	T	0.008	T	0.064	-3.510	0.001	-3.05	-3.075	-1.933	0.116	0.078	0.0010494013884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs199921865	0.0003	0.0025	0.0002	0.0003	0.0022	0.0003	0.0002	0.0018	0.0017	0	0.0003	0.0004	0.0022	0.0007	0.0003	0.0001	0.0003	0.0011	0.0018	0.0061	0.0019	0.0017	0.0049	0.0016	0.0015	0.0031	0.0025	0.0006	0.0012	0.0022	0.0016	0.0034	0.0019	0	0.0021	0.0036	0.0049	0.501	0.07720	T	0.393	0.15355	T	0.0	0.02946	B	0.0	0.01387	B	0.000036	0.00348	N	6.431690	1	0.08975	N	-0.75	0.01730	N	3.1	0.08283	T	0.37	0.03639	N	0.048	0.01999	-0.9811	0.34748	T	0.008	0.02760	T	10	0.015374064	0.00323	T	0.001049	0.01191	T	0.078	0.22779	.	.	0.043077524339	0.03247	0.12431771065475677	0.12357	1.40497198893	0.85293	0.640659511089	0.58658	T	0.002864	0.02258	T	-0.437258	0.01342	T	-0.865867	0.00782	T	0.0813639387488365	0.10161	T	.	.	.	0.020455308	0.00605	0.024905236	0.00519	0.020455308	0.00604	0.024905236	0.00519	-3.652	0.18612	T	.	.	0.063	0.01534	B	.;.	.;.	-1.414293	0.00350	0.006	0.10988419649206094	0.00153	0.00140	0.00856	N	AEFI	0.027556	0.02273	N	-2.2012717286886	0.00076	0.00326484	-2.25839365667107	0.00083	0.003628054	0.00110259057750143	0.08228	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-3.05	0.05069	-2.769000	0.00850	-20.000000	0.00162	-3.109000	0.00123	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2913:0.2194:0.1554:0.3339	0.116	0.00055	970	0.06235	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	123.98	55	chr1	12939019	.	T	C	123.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.387e+00;DP=883;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=26.17;MQRankSum=-1.136e+00;QD=2.10;ReadPosRankSum=-3.750e-01;SOR=0.090	GT:AD:DP:GQ:PL	0/1:52,7:59:99:138,0,1436	20	0	1	0
chr1	12939099	12939099	T	A	exonic	PRAMEF6	.	nonsynonymous SNV	PRAMEF6:NM_001010889:exon4:c.A1007T:p.Y336F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.107	N	1.000	N	-1.81	N	3.01	T	-0.926	T	0.006	T	0.076	-2.477	0.003	0.339	0.074	-0.248	3.740	0.013	0.00172055232894	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1212045870	0.0012	0.0083	0.0011	0.0013	0.0042	0.0011	0.0011	0.0036	0.0034	0.0001	0.0016	0.0014	0.0042	0.0009	0.0015	0.0009	0.0012	0.0035	0.0023	0.0076	0.0024	0.0023	0.0061	0.0021	0.0020	0.0039	0.0032	0.0006	0.0013	0.0024	0.0014	0.0036	0.0018	0.0080	0.0031	0.0020	0.0061	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.107395	0.02605	N	1.835730	1	0.08975	N	-1.95	0.00216	N	3.01	0.09075	T	1.63	0.00629	N	0.058	0.02964	-0.9261	0.44702	T	0.006	0.02206	T	10	0.018534362	0.00404	T	0.001721	0.02882	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.1113188318648407	0.11060	1.51991440881	0.87402	0.641958117485	0.58843	T	0.003721	0.03130	T	-0.408056	0.02048	T	-0.823921	0.01375	T	0.0589441199757913	0.07000	T	.	.	.	0.053857688	0.10254	0.02265511	0.00286	0.053857688	0.10253	0.02265511	0.00286	0.439	0.00226	T	.	.	0.070	0.04277	B	.;.	.;.	-0.569935	0.01656	0.117	0.14642809269060375	0.00330	0.00023	0.00238	N	AEFI	0.013381	0.00175	N	-1.90475760070679	0.00336	0.01441866	-1.85278261524698	0.00604	0.02685704	1.11322317280092E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	0.339	0.15219	-0.439000	0.06967	-3.056000	0.03101	-0.305000	0.06155	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.6627:0.0:0.0:0.3373	3.740	0.08052	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	52.0	34	chr1	12939099	.	T	A	52.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.99;DP=587;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0260;MLEAC=1;MLEAF=0.024;MQ=25.22;MQRankSum=-1.033e+00;QD=2.26;ReadPosRankSum=-6.850e-01;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,3:23:66:0|1:12939099_T_A:66,0,815:12939099	20	0	1	0
chr1	12939106	12939106	T	C	exonic	PRAMEF6	.	nonsynonymous SNV	PRAMEF6:NM_001010889:exon4:c.A1000G:p.T334A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.0	B	0.002	B	0.736	N	1.000	N	1.045	L	2.91	T	-0.981	T	0.019	T	0.065	-1.253	0.050	-3.05	-2.847	-1.468	4.168	0.008	0.000430231312826	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1159170717	0.0013	0.0084	0.0012	0.0014	0.0045	0.0012	0.0012	0.0039	0.0037	0.0002	0.0019	0.0016	0.0045	0.0009	0.0015	0.0010	0.0014	0.0039	0.0025	0.0077	0.0027	0.0024	0.0047	0.0023	0.0022	0.0029	0.0028	0.0007	0.0013	0.0031	0.0014	0.0039	0.0019	0.0157	0.0033	0.0020	0.0047	0.304	0.14303	T	0.427	0.13832	T	0.0	0.02946	B	0.0	0.01387	B	0.736349	0.06401	N	1.131660	1	0.08975	N	0.16	0.08945	N	2.91	0.10008	T	-2.57	0.55501	D	0.026	0.00571	-0.9806	0.34863	T	0.019	0.07753	T	10	0.021722943	0.00526	T	4.3E-4	0.00092	T	0.008	0.00669	0.296	0.26041	0.043077524339	0.03247	0.18757943304816366	0.18675	1.6140162408	0.88967	0.558938384056	0.47119	T	0.078214	0.35839	T	-0.41877	0.01742	T	-0.83931	0.01109	T	0.0561905378004138	0.06555	T	.	.	.	0.054016206	0.10307	0.046345264	0.06438	0.054016206	0.10306	0.046345264	0.06438	-5.986	0.46163	T	.	.	0.068	0.02829	B	.;.	.;.	-0.748047	0.01214	0.060	0.26705328653001426	0.01292	0.00137	0.00841	N	AEFI	0.019983	0.00745	N	-1.69436572603077	0.00862	0.03729456	-1.83968127523422	0.00640	0.0284578	5.60192468764745E-4	0.07304	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-3.05	0.05069	-1.191000	0.03164	-11.848000	0.00570	-4.360000	0.00032	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2004:0.3496:0.45	4.168	0.09778	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	55.0	34	chr1	12939106	.	T	C	55.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=575;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0260;MLEAC=1;MLEAF=0.024;MQ=25.23;MQRankSum=-1.024e+00;QD=2.50;ReadPosRankSum=-8.620e-01;SOR=0.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,3:22:69:0|1:12939099_T_A:69,0,789:12939099	20	0	1	0
chr1	12939119	12939119	A	C	exonic	PRAMEF6	.	nonsynonymous SNV	PRAMEF6:NM_001010889:exon4:c.T987G:p.S329R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.001	B	0.003	B	0.094	N	1.000	N	1.345	L	0.32	T	-1.052	T	0.104	T	0.273	0.111	4.599	-2.12	-0.500	-0.509	2.443	0.051	0.00319875323146	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1350147047	0.0019	0.0083	0.0016	0.0022	0.0061	0.0018	0.0018	0.0055	0.0053	0.0002	0.0027	0.0022	0.0061	0.0013	0.0026	0.0014	0.0020	0.0060	0.0027	0.0073	0.0028	0.0026	0.0060	0.0025	0.0024	0.0037	0.0031	0.0008	0.0027	0.0032	0.0018	0.0048	0.0017	0.0118	0.0035	0.0028	0.0060	0.127	0.27080	T	0.17	0.30436	T	0.001	0.07471	B	0.003	0.08700	B	0.093840	0.20204	N	0.522318	1	0.08975	N	0.535	0.13693	N	0.32	0.58468	T	-2.57	0.55501	D	0.194	0.21319	-1.0524	0.13736	T	0.104	0.38193	T	10	0.03261417	0.01416	T	0.003199	0.07026	T	0.051	0.14325	0.546	0.66015	0.043077524339	0.03247	0.5892625784559933	0.58856	1.79913636405	0.91619	0.628517627716	0.56934	T	0.089854	0.38462	T	-0.189966	0.22262	T	-0.510649	0.21248	T	0.0479062748044033	0.05126	T	.	.	.	0.09366907	0.22004	0.10548011	0.25357	0.09366907	0.22004	0.10548011	0.25356	-4.436	0.30042	T	.	.	0.118	0.24123	B	.;.	.;.	-0.661678	0.01412	0.083	0.71564530729828868	0.09672	0.00388	0.01954	N	AEFI	0.035038	0.04443	N	-1.17497625843714	0.05380	0.2451338	-1.31833371613489	0.04193	0.1972763	2.0880716037255E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-2.12	0.06766	-0.490000	0.06562	-20.000000	0.00162	-3.359000	0.00092	0.022000	0.19841	0.000000	0.08366	0.001000	0.02609	0.4651:0.2696:0.0:0.2653	2.443	0.04224	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	57.98	34	chr1	12939119	.	A	C	57.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.24;DP=545;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0247;MLEAC=1;MLEAF=0.024;MQ=25.06;MQRankSum=-9.170e-01;QD=2.76;ReadPosRankSum=-6.540e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:18,3:21:72:72,0,476	20	0	1	0
chr1	13052490	13052490	T	C	exonic	PRAMEF27	.	nonsynonymous SNV	PRAMEF27:NM_001300891:exon3:c.A503G:p.Y168C,	.	.	615	902	5	0	0	5	0.00276396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1382143376	0.0002	0.0007	0.0002	0.0002	0.0011	0.0002	0.0002	0.0007	0.0005	0.0011	0.0004	0.0002	0.0003	0.0003	0	0.0002	7.379e-05	0.0001	0.0007	0.0014	0.0008	0.0005	0.0031	0.0005	0.0005	0.0011	0.0006	0.0002	0	0.0003	0.0010	0	0.0003	0	0.0008	0	0.0031	.	.	.	0.149	0.32568	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.22357	.	.	.	.	.	.	.	0.14102495	0.26800	T	.	.	.	.	.	.	.	.	.	0.27260116635704335	0.27173	.	.	.	.	.	0.143287	0.47933	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.809	0.44653	T	.	.	0.069	0.03266	B	.	.	0.253280	0.06325	2.784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.298000	0.08302	-13.872000	0.00434	-0.702000	0.04048	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	976	0.04745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	54.41	60	chr1	13052490	.	T	C	54.41	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.34;DP=631;ExcessHet=0.0000;FS=10.977;InbreedingCoeff=-0.0563;MLEAC=1;MLEAF=0.026;MQ=24.28;MQRankSum=-2.238e+00;QD=0.91;ReadPosRankSum=0.146;SOR=2.681	GT:AD:DP:GQ:PL	./.	18	0	1	2
chr1	13053436	13053436	G	C	exonic	PRAMEF27	.	nonsynonymous SNV	PRAMEF27:NM_001300891:exon2:c.C224G:p.P75R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.019	B	0.022	B	0.899	N	1.000	N	2.685	M	3.43	T	-0.981	T	0.027	T	0.301	-0.863	0.519	-1.94	-0.933	0.566	6.875	0.097	0.000478912501301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.128e-07	6.854e-07	1.418e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.46182	T	.	.	.	.	.	.	0.899348	0.07345	N	1.056830	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.097	0.07811	-0.9813	0.34701	T	0.027	0.11441	T	10	0.076100975	0.11844	T	4.79E-4	0.00133	T	.	.	.	.	0.043077524339	0.03247	0.36389736855637117	0.36303	.	.	.	.	.	0.090464	0.38591	T	-0.163868	0.26168	T	-0.473161	0.25177	T	0.0512777790427208	0.05724	T	.	.	.	0.020923752	0.00670	0.042152587	0.04955	0.020923752	0.00669	0.042152587	0.04955	-6.527	0.50494	T	.	.	0.139	0.30397	B	.	.	-0.171900	0.03238	0.544	0.49923010541449675	0.04294	0.00530	0.02456	N	AEFI	0.028404	0.02496	N	-1.30232259779536	0.03649	0.1633738	-1.49207149020522	0.02409	0.1107352	2.7981617420529E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.21	-1.94	0.07158	0.291000	0.18748	-4.802000	0.01980	-1.793000	0.00635	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.5461:0.4539:0.0	6.875	0.23323	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	1736.91	122	chr1	13053436	.	G	C	1736.91	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.787;DP=871;ExcessHet=0.0000;FS=1.563;InbreedingCoeff=-0.0359;MLEAC=1;MLEAF=0.026;MQ=44.11;MQRankSum=-9.000e-02;QD=14.24;ReadPosRankSum=0.615;SOR=0.930	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,33	18	0	1	2
chr1	13178828	13178828	G	A	exonic	PRAMEF27;PRAMEF9	.	nonsynonymous SNV	PRAMEF9:NM_001010890:exon3:c.G1133A:p.R378H	.	.	515	1006	1	0	0	1	0.000496771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219628792	6.092e-05	6.471e-05	4.961e-05	7.223e-05	0.0005	4.994e-05	4.568e-05	0.0003	0.0003	0.0002	0	0	0.0003	0	0.0005	1.503e-05	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	0.0013	0.0001	9.77e-05	0.0005	0.0003	0.0003	0	0	0	0.0011	0	0	6.562e-05	0	0.0013	.	.	.	0.399	0.15059	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.02559	.	.	.	.	.	.	.	0.08434591	0.14127	T	.	.	.	.	.	.	.	.	.	0.21862466034776323	0.21778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.07793	B	.	.	0.817322	0.11882	8.449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.139000	0.10338	-20.000000	0.00162	0.337000	0.19705	0.009000	0.18154	0.000000	0.08366	0.135000	0.19760	.	.	.	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02632	1193.71	58	chr1	13178828	.	G	A	1193.71	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6.54;DP=1140;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=31.45;MQRankSum=-1.656e+00;QD=18.09;ReadPosRankSum=1.00;SOR=1.376	GT:AD:DP:GQ:PL	0/0:144,0:144:99:0,120,1800	18	0	1	2
chr1	13198855	13198855	C	T	exonic	PRAMEF13	.	stopgain	PRAMEF13:NM_001291380:exon3:c.G339A:p.W113X,	.	.	983	538	1	0	0	1	0.000928505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1187720908	3.744e-05	3.404e-05	3.589e-05	3.898e-05	0.0006	2.492e-05	2.081e-05	0.0004	0.0003	0	0	0	0.0006	0	0	1.108e-05	7.301e-05	0	4.319e-05	3.683e-05	0	9.116e-05	0.0007	1.147e-05	6.18e-06	0.0001	5.076e-05	0	0	0	0	0.0007	0	0	3.822e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.008848	0.30636	N	0.319304	1	0.81001	A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.262935	0.64797	24.7	0.98237260034390927	0.39449	0.01579	0.05145	N	AEFI	.	.	.	-0.122519210791451	0.36413	2.104416	-0.519695957106637	0.21619	1.170366	2.21208970121553E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.14	1.14	0.19817	0.332000	0.19494	0.751000	0.21237	0.284000	0.18682	0.136000	0.23442	0.000000	0.08366	0.018000	0.11154	0.0:1.0:0.0:0.0	5.624	0.16750	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2116.29	33	chr1	13198855	.	C	T	2116.29	.	AC=2;AF=0.083;AN=24;DP=474;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.7184;MLEAC=3;MLEAF=0.125;MQ=50.76;QD=32.56;SOR=0.854	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	11	1	0	9
chr1	13224904	13224904	A	T	exonic	PRAMEF18;PRAMEF22	.	nonsynonymous SNV	PRAMEF18:NM_001099850:exon2:c.T817A:p.Y273N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294938	0.14701	N	0.663886	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9919	0.32115	T	0.168	0.50713	T	10	0.24546862	0.41795	T	0.03869	0.58371	D	.	.	0.484	0.56621	0.245660935333	0.24156	0.23412053064863528	0.23327	.	.	0.736096382141	0.72397	T	0.097991	0.40137	T	-0.184472	0.23074	T	-0.502757	0.22063	T	0.583659172058105	0.35759	D	.	.	.	0.03243776	0.03270	0.039548032	0.04072	0.03243776	0.03270	0.039548032	0.04072	-6.197	0.47898	T	.	.	0.293	0.52426	B	.	.	0.588558	0.09571	6.345	0.89194505957382364	0.18590	0.00933	0.03615	N	AEI	0.031887	0.03496	N	-0.440429543044863	0.24065	1.296842	-0.719096555841804	0.16485	0.8723112	2.24725615356947E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.32	1.32	0.20897	-1.031000	0.03689	-20.000000	0.00162	0.517000	0.23534	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	1.0:0.0:0.0:0.0	4.799	0.12655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	644.98	33	chr1	13224904	.	A	T	644.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.04;DP=898;ExcessHet=0.0000;FS=3.690;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=3.82;ReadPosRankSum=-3.590e-01;SOR=1.076	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1239	20	0	1	0
chr1	13281633	13281633	A	G	exonic	PRAMEF8	.	nonsynonymous SNV	PRAMEF8:NM_001012276:exon4:c.T1163C:p.I388T,	.	.	447	1068	7	0	0	7	0.00326645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.99	D	0.894	P	0.281	N	1.000	N	2.25	M	5.11	T	-1.013	T	0.014	T	0.283	1.264	10.12	2.03	0.929	3.342	7.682	0.105	0.0392094899584	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1261687327	0.0006	0.0006	0.0006	0.0007	0.0024	0.0006	0.0006	0.0022	0.0021	5.989e-05	8.956e-05	0	0	0	0.0017	0.0006	0.0006	0.0024	0.0004	0.0004	0.0004	0.0004	0.0021	0.0003	0.0003	0.0011	0.0008	7.507e-05	0	7.264e-05	0	0	0	0	0.0006	0.0026	0.0021	0.262	0.16466	T	0.205	0.27145	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.11	0.01224	T	-3.38	0.66780	D	0.289	0.34336	.	.	.	.	.	.	.	0.29297444	0.46873	T	.	.	.	.	.	.	.	0.186928172975	0.18263	0.36682660529706146	0.36596	.	.	0.565986931324	0.48111	T	0.100821	0.40699	T	0.0184342	0.54170	T	-0.211297	0.53571	T	.	.	.	.	.	.	0.0498263	0.08909	0.12004041	0.28972	0.0498263	0.08908	0.12004041	0.28971	-6.743	0.52133	T	.	.	0.537	0.66914	A	.;.;.	.;.;.	2.431563	0.31284	18.69	0.63082009607711964	0.07130	0.49232	0.28386	N	AEFI	0.058508	0.10982	N	.	.	.	.	.	.	6.82775468482763E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.56	1.56	0.22423	3.606000	0.53846	3.706000	0.39541	0.359000	0.20063	0.858000	0.30578	0.186000	0.23459	0.052000	0.15357	1.0:0.0:0.0:0.0	7.169	0.24883	.	.	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5814.11	36	chr1	13281633	.	A	G	5814.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.550e+00;DP=1267;ExcessHet=0.1072;FS=15.158;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=35.80;MQRankSum=2.32;QD=12.06;ReadPosRankSum=0.040;SOR=0.236	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1345	19	0	2	0
chr1	13282884	13282884	C	T	exonic	PRAMEF8	.	nonsynonymous SNV	PRAMEF8:NM_001012276:exon3:c.G826A:p.V276I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.997	D	0.803	P	0.018	N	1.000	N	1.275	L	5.49	T	-0.909	T	0.006	T	0.047	-0.021	3.906	0.437	0.146	-0.172	5.555	0.026	0.0348262462118	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1379848807	0.0017	0.0017	0.0018	0.0017	0.0024	0.0016	0.0016	0.0022	0.0021	0.0003	0.0010	0.0023	8.133e-05	0.0010	0.0007	0.0024	0.0024	2.514e-05	0.0015	0.0017	0.0017	0.0013	0.0025	0.0013	0.0012	0.0021	0.0020	0.0006	0	0.0010	0.0020	0	0.0007	0	0.0025	0.0008	0	0.894	0.02459	T	0.502	0.11115	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.49	0.00930	T	-0.63	0.18459	N	0.049	0.02179	.	.	.	.	.	.	.	0.0340389	0.01598	T	.	.	.	.	.	.	.	0.162503812791	0.15892	0.12495711355592264	0.12421	.	.	0.679189562798	0.64152	T	0.016063	0.13351	T	-0.0600255	0.42905	T	-0.323999	0.42133	T	.	.	.	.	.	.	0.015225977	0.00128	0.05505007	0.09583	0.015225977	0.00128	0.05505007	0.09582	-4.784	0.34404	T	.	.	0.105	0.19114	B	.;.;.	.;.;.	1.148836	0.15365	11.80	0.65553019021391823	0.07805	0.00381	0.01927	N	AEFI	0.021289	0.00931	N	.	.	.	.	.	.	1.17712276854768E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.7	-0.662	0.10840	0.064000	0.14310	-20.000000	0.00162	0.291000	0.18778	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.392:0.608:0.0	7.714	0.27858	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	214.06	14	chr1	13282884	.	C	T	214.06	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.97;DP=257;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0300;MLEAC=1;MLEAF=0.024;MQ=27.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=1.15;SOR=0.602	GT:AD:DP:GQ:PL	0/0:9,0:9:27:0,27,309	20	0	1	0
chr1	13283877	13283877	G	A	exonic	PRAMEF8	.	nonsynonymous SNV	PRAMEF8:NM_001012276:exon2:c.C215T:p.S72L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.078	B	0.007	B	0.000	N	1.000	N	0.235	N	2.57	T	-1.026	T	0.018	T	0.105	-0.298	2.577	-2.54	-0.677	-1.860	2.671	0.009	0.0264923354066	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1435289031	2.282e-05	2.397e-05	1.791e-05	2.778e-05	0.0006	1.628e-05	1.432e-05	0.0004	0.0003	2.991e-05	0.0006	0	0	0	0	5.467e-06	1.668e-05	0	8.995e-05	9.259e-05	5.37e-05	0.0001	0.0008	5.309e-05	4.156e-05	0.0004	0.0003	2.456e-05	0	0.0008	0	0	0	0	1.558e-05	0	0	0.288	0.15098	T	0.224	0.25591	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.57	0.13552	T	-0.3	0.11913	N	0.128	0.12913	.	.	.	.	.	.	.	0.062437415	0.07984	T	.	.	.	.	.	.	.	0.18995819373	0.18626	0.13254266755348457	0.13178	.	.	0.594366550446	0.52109	T	0.002673	0.02065	T	-0.0680935	0.41632	T	-0.335588	0.40843	T	.	.	.	.	.	.	0.053655934	0.10184	0.06649915	0.13630	0.053655934	0.10184	0.06649915	0.13629	-5.042	0.37293	T	.	.	0.103	0.18331	B	.;.;.	.;.;.	0.330287	0.07045	3.607	0.55659275210847503	0.05388	0.00223	0.01258	N	AEFI	0.029224	0.02720	N	.	.	.	.	.	.	1.09816412601087E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.91	-0.111	0.12914	-1.013000	0.03755	-20.000000	0.00162	0.246000	0.18300	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.3766:0.0:0.6234:0.0	4.323	0.10466	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	726.98	36	chr1	13283877	.	G	A	726.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.18;DP=932;ExcessHet=0.0000;FS=4.261;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=37.69;MQRankSum=-1.619e+00;QD=3.45;ReadPosRankSum=0.428;SOR=1.094	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,114,1710	20	0	1	0
chr1	13306208	13306208	T	G	exonic	PRAMEF33	.	nonsynonymous SNV	PRAMEF33:NM_001291381:exon2:c.T254G:p.L85R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.663e-05	1.987e-05	1.796e-05	1.527e-05	0.0004	1.089e-05	9.3e-06	0.0003	0.0002	0.0004	6.144e-05	0	0	0	0.0003	5.878e-06	0	0	1.33e-05	1.317e-05	0	2.726e-05	2.449e-05	2.21e-06	8.3e-07	.	.	2.449e-05	0	0	0	0	0	0	1.483e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14567018	0.27629	T	.	.	.	.	.	.	.	.	.	0.7256550213199024	0.72509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09290322	0.21806	0.20804475	0.45089	0.09290322	0.21805	0.20804475	0.45088	-10.089	0.74443	D	.	.	0.406	0.59882	A	.	.	2.406702	0.30930	18.59	0.4805054856625437	0.03978	0.02018	0.06063	N	AEFI	.	.	.	.	.	.	.	.	.	1.57396280656373E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.041921	0.02065	0.856	0.856	0.18156	0.398000	0.20624	0.611000	0.20031	0.410000	0.20643	0.001000	0.13787	0.001000	0.17328	0.008000	0.08271	0.0:0.0:0.0:1.0	3.996	0.09048	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	344.98	34	chr1	13306208	.	T	G	344.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.203e+00;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=33.11;MQRankSum=0.00;QD=5.75;ReadPosRankSum=0.408;SOR=0.582	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1428	20	0	1	0
chr1	13307084	13307084	G	A	exonic	PRAMEF33	.	nonsynonymous SNV	PRAMEF33:NM_001291381:exon3:c.G734A:p.R245H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1485833101	3.409e-05	4.101e-05	3.781e-05	3.069e-05	0.0002	2.075e-05	1.696e-05	2.799e-05	1.463e-05	0.0002	0	0	0	0	0	3.48e-05	7.433e-05	4.329e-05	3.772e-05	4.368e-05	3.43e-05	4.19e-05	8.883e-05	6.25e-06	2.34e-06	.	.	8.883e-05	0	0	0	0	0	0	0	0.0016	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1292426	0.24589	T	.	.	.	.	.	.	.	.	.	0.1445962887668047	0.14382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026599852	0.01738	0.04208145	0.04932	0.026599852	0.01738	0.04208145	0.04931	-4.237	0.27284	T	.	.	0.080	0.07841	B	.	.	0.762186	0.11320	7.941	0.629135320216894	0.07085	0.00210	0.01196	N	AEFI	.	.	.	.	.	.	.	.	.	2.98667977262085E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0424412	0.02217	0.739	-1.48	0.08286	0.228000	0.17594	-2.963000	0.03187	-1.053000	0.01634	0.005000	0.17040	0.000000	0.08366	0.000000	0.00833	0.3193:0.3431:0.3377:0.0	2.160	0.03590	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	231.17	14	chr1	13307084	.	G	A	231.17	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.18;DP=295;ExcessHet=0.0000;FS=26.945;InbreedingCoeff=-0.0323;MLEAC=1;MLEAF=0.024;MQ=26.78;MQRankSum=0.930;QD=9.63;ReadPosRankSum=1.03;SOR=4.799	GT:AD:DP:GQ:PL	0/0:13,0:13:39:0,39,456	20	0	1	0
chr1	13308385	13308385	G	A	exonic	PRAMEF33	.	nonsynonymous SNV	PRAMEF33:NM_001291381:exon4:c.G923A:p.R308Q,	.	.	625	891	5	1	0	7	0.0039128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0105831	.	.	.	.	.	.	.	.	0.0039957	104	26028	rs201293819	0.0054	0.0065	0.0059	0.0049	0.0371	0.0053	0.0052	0.0355	0.0348	0.0186	0.0371	0.0051	0.0130	0.0012	0.0023	0.0037	0.0054	0.0027	0.0058	0.0091	0.0062	0.0055	0.0112	0.0054	0.0053	0.0102	0.0099	0.0112	0	0.0102	0.0023	0.0100	0.0018	0	0.0021	0.0039	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006362945	0.00144	T	.	.	.	.	.	.	.	.	.	0.13498317028107204	0.13422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024626588	0.01313	0.052157898	0.08539	0.024626588	0.01313	0.052157898	0.08539	-3.873	0.21898	T	.	.	0.086	0.10835	B	.	.	-0.412888	0.02164	0.211	0.41852557287589442	0.03046	0.00089	0.00592	N	AEFI	.	.	.	.	.	.	.	.	.	4.4019616183451E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0433295	0.02532	0.822	-1.64	0.07874	-2.491000	0.01050	-20.000000	0.00162	-2.544000	0.00250	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4362:0.2997:0.2641	2.751	0.04956	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	55.98	26	chr1	13308385	.	G	A	55.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.99;DP=895;ExcessHet=0.0000;FS=1.925;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=40.77;MQRankSum=-6.600e-01;QD=1.40;ReadPosRankSum=0.327;SOR=0.858	GT:AD:DP:GQ:PL	0/0:97,0:97:99:0,120,1800	20	0	1	0
chr1	13308405	13308405	C	T	exonic	PRAMEF33	.	stopgain	PRAMEF33:NM_001291381:exon4:c.C943T:p.Q315X,	.	.	627	870	20	5	0	30	0.0169492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00299521	.	.	.	.	.	.	.	.	0.0037268	97	26028	rs200530087	0.0031	0.0049	0.0026	0.0035	0.0138	0.0030	0.0030	0.0131	0.0128	0.0028	0.0025	0.0023	0.0005	0.0007	0.0070	0.0023	0.0037	0.0138	0.0020	0.0028	0.0022	0.0018	0.0038	0.0018	0.0017	0.0027	0.0024	0.0032	0	0.0038	0	0.0003	0.0006	0	0.0011	0.0053	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.573511	0.72187	25.8	0.54517735962146052	0.05154	0.00213	0.01210	N	AEFI	.	.	.	.	.	.	.	.	.	1.15806790253665E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0433295	0.02532	0.822	-0.603	0.11047	0.161000	0.16298	-4.620000	0.02066	-0.467000	0.05102	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.6908:0.0:0.3092	3.659	0.07767	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	149.98	20	chr1	13308405	.	C	T	149.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.920e-01;DP=887;ExcessHet=0.0000;FS=1.274;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=36.37;MQRankSum=-2.133e+00;QD=2.88;ReadPosRankSum=-9.940e-01;SOR=0.970	GT:AD:DP:GQ:PL	0/0:99,0:99:99:0,120,1800	20	0	1	0
chr1	13308568	13308568	T	C	exonic	PRAMEF33	.	nonsynonymous SNV	PRAMEF33:NM_001291381:exon4:c.T1106C:p.L369P,	.	.	679	828	13	2	0	17	0.0101614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201731777	0.0009	0.0017	0.0009	0.0009	0.0009	0.0008	0.0008	0.0008	0.0008	0.0009	0.0001	4.652e-05	0.0006	0.0032	0	0.0009	0.0010	0.0003	0.0008	0.0018	0.0008	0.0008	0.0013	0.0006	0.0006	0.0011	0.0010	0.0005	0	0.0001	0	0.0006	0.0002	0	0.0013	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1523625	0.28782	T	.	.	.	.	.	.	.	.	.	0.7705504389889053	0.77004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22186215	0.44772	0.23266211	0.48433	0.22186215	0.44772	0.23266211	0.48432	-9.303	0.69626	D	.	.	0.429	0.61140	A	.	.	1.867573	0.23722	16.13	0.30924229698854228	0.01717	0.00334	0.01740	N	AEFI	.	.	.	.	.	.	.	.	.	1.55844724575657E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0434673	0.02580	0.822	0.822	0.17944	0.086000	0.14780	0.350000	0.17468	0.229000	0.18133	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	0.0:0.0:0.0:1.0	3.983	0.08994	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07895	78.98	6	chr1	13308568	.	T	C	78.98	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.480e+00;DP=491;ExcessHet=0.3476;FS=28.099;InbreedingCoeff=-0.0989;MLEAC=3;MLEAF=0.079;MQ=30.00;MQRankSum=-5.490e-01;QD=3.04;ReadPosRankSum=-1.465e+00;SOR=3.895	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:65,0:65:99:.:.:0,120,1800	16	0	3	2
chr1	13318598	13318598	G	A	exonic	PRAMEF15	.	nonsynonymous SNV	PRAMEF15:NM_001098376:exon2:c.G191A:p.R64H,	.	.	405	1091	26	0	0	26	0.0117754	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.002	B	0.002	B	0.074	N	1.000	N	.	.	2.79	T	-1.004	T	0.017	T	0.07	-1.859	0.009	-2.1	-2.222	-0.392	0.380	0.031	0.0369774697323	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1472959485	0.0003	0.0067	0.0003	0.0003	0.0013	0.0003	0.0003	0.0007	0.0006	0.0005	0.0002	0.0002	0.0009	9.573e-05	0.0013	0.0003	0.0003	0.0005	0.0003	0.0025	0.0002	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	0.0004	0.0035	6.657e-05	0	0.0006	0.0002	0	0.0002	0.0005	0.0004	0.525	0.07140	T	0.575	0.08654	T	.	.	.	.	.	.	0.074092	0.02283	N	1.881130	1	0.08975	N	.	.	.	2.79	0.11189	T	-0.55	0.16799	N	0.044	0.01658	-1.0293	0.20681	T	0.015	0.05946	T	8	0.023069829	0.00593	T	0.001222	0.01608	T	.	.	.	.	0.0297737177859	0.01360	0.23243132047722803	0.23158	.	.	0.456076145172	0.32774	T	.	.	.	-0.42041	0.01700	T	-0.841667	0.01074	T	0.0221624638565028	0.00927	T	0.152485	0.01303	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.16973	B	.	.	-0.306877	0.02587	0.318	0.3247514774469345	0.01884	0.00112	0.00708	N	AEFI	0.021848	0.01021	N	-1.54749839839041	0.01549	0.06767291	-1.73690248014379	0.00983	0.04406507	1.1847666085279E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.15	-2.29	0.06419	-0.600000	0.05789	-8.133000	0.01022	-3.802000	0.00059	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.2401:0.3173:0.2441:0.1984	0.434	0.00444	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	906.68	50	chr1	13318598	.	G	A	906.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.608;DP=1464;ExcessHet=0.3300;FS=10.291;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=36.78;MQRankSum=-1.888e+00;QD=1.52;ReadPosRankSum=-1.951e+00;SOR=2.070	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:226,30:256:99:0|1:13318598_G_A:544,0,9307:13318598	18	0	3	0
chr1	13318601	13318601	G	A	exonic	PRAMEF15	.	nonsynonymous SNV	PRAMEF15:NM_001098376:exon2:c.G194A:p.R65H,	.	.	406	1103	13	0	0	13	0.00585849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.009	B	0.006	B	0.213	N	1.000	N	.	.	2.79	T	-0.966	T	0.017	T	0.062	-0.778	0.738	-0.162	-0.693	-0.526	6.180	0.027	0.0336539354214	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1416469108	5.572e-05	0.0019	5.475e-05	5.67e-05	0.0009	4.569e-05	4.179e-05	0.0003	0.0002	8.969e-05	2.244e-05	0.0004	2.52e-05	1.877e-05	0.0009	3.437e-05	8.326e-05	0.0002	0.0001	0.0007	0.0002	0.0001	0.0006	9.796e-05	8.303e-05	0.0002	9.119e-05	9.639e-05	0	6.588e-05	0.0003	0	9.445e-05	0	0.0002	0.0005	0.0006	0.204	0.20078	T	0.542	0.09690	T	.	.	.	.	.	.	0.212854	0.03399	N	1.582610	1	0.08975	N	.	.	.	2.79	0.11189	T	-2.67	0.57110	D	0.089	0.06720	-0.9832	0.34258	T	0.043	0.18576	T	8	0.088977695	0.15370	T	0.001103	0.01312	T	.	.	.	.	0.0297737177859	0.01360	0.23248738235852817	0.23163	.	.	0.376942545176	0.21821	T	.	.	.	-0.398143	0.02381	T	-0.809682	0.01672	T	0.115081892617503	0.13942	T	0.555844	0.19272	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.16973	B	.	.	0.481113	0.08503	5.267	0.62407952715295867	0.06955	0.00427	0.02100	N	AEFI	0.022775	0.01181	N	-1.00019295008573	0.08600	0.4038423	-1.23786836837196	0.05313	0.2528468	1.09865888659562E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.15	0.144	0.14120	-0.846000	0.04444	-10.921000	0.00652	-0.668000	0.04312	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2396:0.0:0.7604:0.0	4.502	0.11278	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	868.68	50	chr1	13318601	.	G	A	868.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.06;DP=1442;ExcessHet=0.3300;FS=13.380;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=36.67;MQRankSum=-1.868e+00;QD=1.46;ReadPosRankSum=-2.094e+00;SOR=2.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:225,29:254:99:0|1:13318598_G_A:525,0,9288:13318598	18	0	3	0
chr1	13319490	13319490	C	G	exonic	PRAMEF15	.	nonsynonymous SNV	PRAMEF15:NM_001098376:exon3:c.C412G:p.Q138E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.008	N	1.000	N	.	.	3.82	T	-0.970	T	0.005	T	0.091	-2.791	0	-1.66	-0.487	-0.661	3.52	0.008	0.144925474874	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1456214081	1.643e-05	4.173e-05	1.09e-05	2.201e-05	3.479e-05	1.111e-05	9.34e-06	1.012e-05	8.35e-06	2.988e-05	0	0	2.519e-05	0	0	1.62e-05	1.657e-05	3.479e-05	1.97e-05	2.625e-05	1.285e-05	2.686e-05	0.0002	5.24e-06	2.45e-06	.	.	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.008413	0.01205	N	3.055790	1	0.08975	N	.	.	.	3.82	0.03728	T	-0.42	0.14193	N	0.074	0.04790	-0.9714	0.36904	T	0.004	0.01295	T	8	0.045889676	0.03712	T	0.001371	0.01986	T	.	.	.	.	0.0297737177859	0.01360	0.06828703451872287	0.06766	.	.	0.515325844288	0.40969	T	.	.	.	-0.407378	0.02069	T	-0.822947	0.01394	T	0.0257060084388537	0.01366	T	0.0874912	0.00644	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00876	B	.	.	-0.839039	0.01033	0.043	0.43602524064403586	0.03294	0.00209	0.01192	N	AEFI	0.024689	0.01569	N	-1.5513993318392	0.01526	0.0666591	-1.67768329631319	0.01239	0.05584373	3.4844950414554E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.907	-1.81	0.07456	-0.769000	0.04816	-4.021000	0.02389	-0.519000	0.04982	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.4161:0.3163:0.2676:0.0	2.336	0.03989	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	4149.98	40	chr1	13319490	.	C	G	4149.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.557;DP=2842;ExcessHet=0.0000;FS=5.005;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=46.99;MQRankSum=-6.969e+00;QD=5.12;ReadPosRankSum=-2.835e+00;SOR=0.375	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	20	0	1	0
chr1	13319834	13319839	AGAGCA	-	exonic	PRAMEF15	.	nonframeshift deletion	PRAMEF15:NM_001098376:exon3:c.756_761del:p.E253_Q254del,	.	.	435	1037	50	0	0	50	0.0235405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.829e-05	0.0049	7.355e-05	6.298e-05	7.027e-05	5.733e-05	5.268e-05	5.4e-05	4.968e-05	0	4.487e-05	3.841e-05	5.091e-05	0.0002	0	6.645e-05	6.699e-05	7.027e-05	0.0002	0.0046	0.0002	0.0003	0.0010	0.0002	0.0001	0.0004	0.0003	2.415e-05	0	0.0004	0	0.0010	0.0004	0	0.0002	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	347.94	40	chr1	13319833	.	CAGAGCA	C	347.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.597e+00;DP=1713;ExcessHet=0.0000;FS=3.550;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=31.10;MQRankSum=-3.117e+00;QD=0.72;ReadPosRankSum=2.08;SOR=1.288	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:445,41:486:99:0|1:13319825_C_T:362,0,18415:13319825	20	0	1	0
chr1	13319836	13319836	A	0	exonic	PRAMEF15	.	.	.	.	.	432	909	136	0	45	181	0.0696008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	989.28	40	chr1	13319836	.	A	G,*	989.28	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-3.654e+00;DP=2161;ExcessHet=0.3300;FS=6.894;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=31.09;MQRankSum=-5.001e+00;QD=0.84;ReadPosRankSum=2.87;SOR=1.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:362,63,40:465:74:1|0:13319825_C_T:385,74,9104,0,8594,16394:13319825	18	0	2	0
chr1	13319841	13319841	-	AAC	exonic	PRAMEF15	.	nonframeshift insertion	PRAMEF15:NM_001098376:exon3:c.763_764insAAC:p.K255_K256insQ,	.	.	429	1040	50	0	3	53	0.0234742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0054	0.0001	9.159e-05	0.0001	9.076e-05	8.548e-05	9.87e-05	9.265e-05	0	4.495e-05	3.848e-05	5.099e-05	0.0002	0	0.0001	3.369e-05	0.0001	0.0003	0.0047	0.0002	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	2.421e-05	0	0.0005	0	0.0010	0.0007	0	0.0003	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	382.94	40	chr1	13319841	.	A	AAAC	382.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.140e-01;DP=1810;ExcessHet=0.0000;FS=3.470;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=31.35;MQRankSum=-3.238e+00;QD=0.82;ReadPosRankSum=2.69;SOR=1.251	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:426,40:466:99:0|1:13319825_C_T:397,0,17743:13319825	20	0	1	0
chr1	13319850	13319850	A	T	exonic	PRAMEF15	.	nonsynonymous SNV	PRAMEF15:NM_001098376:exon3:c.A772T:p.I258F,	.	.	429	1045	48	0	0	48	0.0224509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.0	B	0.002	B	0.001	N	1.000	N	.	.	5.52	T	-0.929	T	0.002	T	0.096	-2.623	0	-2.38	-0.882	-0.284	1.640	0.011	0.0465945570856	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1428519179	4.665e-05	0.0031	4.853e-05	4.475e-05	0.0002	3.726e-05	3.407e-05	3.85e-05	3.448e-05	0	0	0	0	0.0002	0.0002	4.915e-05	0	2.338e-05	0.0003	0.0049	0.0003	0.0004	0.0007	0.0002	0.0002	0.0004	0.0003	4.841e-05	0	0.0007	0	0.0004	0.0007	0	0.0003	0	0.0006	0.9	0.02424	T	0.776	0.04387	T	.	.	.	.	.	.	0.001351	0.00773	N	19.271900	1	0.08975	N	.	.	.	5.52	0.00903	T	1.5	0.00737	N	0.059	0.03069	-0.9244	0.44943	T	0.002	0.00497	T	8	0.030527383	0.01180	T	8.26E-4	0.00670	T	.	.	.	.	0.0138822411134	0.00435	0.33559197118945355	0.33472	.	.	0.548362731934	0.45626	T	.	.	.	-0.398354	0.02374	T	-0.809984	0.01665	T	0.0521829248714305	0.05879	T	0.019698	0.00107	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.03625	B	.	.	-0.990380	0.00785	0.025	0.12626954865192833	0.00225	0.00048	0.00378	N	AEFI	0.015058	0.00269	N	-1.80295027828649	0.00538	0.02316194	-1.93913050305334	0.00409	0.01808103	1.63364461905026E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.44	-2.89	0.05326	-2.241000	0.01279	-20.000000	0.00162	-2.623000	0.00229	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.219:0.2393:0.2149:0.3268	0.134	0.00071	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	305.98	40	chr1	13319850	.	A	T	305.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.951;DP=1809;ExcessHet=0.0000;FS=5.225;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=31.90;MQRankSum=-3.278e+00;QD=0.66;ReadPosRankSum=1.40;SOR=1.448	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:424,38:462:99:0|1:13319825_C_T:320,0,17479:13319825	20	0	1	0
chr1	13319928	13319928	G	A	exonic	PRAMEF15	.	nonsynonymous SNV	PRAMEF15:NM_001098376:exon3:c.G850A:p.E284K,	.	.	425	1054	42	1	0	44	0.0204461	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.129	B	0.024	B	0.939	N	1.000	N	.	.	0.88	T	-1.027	T	0.050	T	0.104	-0.196	3.047	-0.555	-0.187	-0.272	3.390	0.030	0.0182011696665	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1333390099	0.0071	0.0071	0.0059	0.0083	0.0404	0.0070	0.0069	0.0393	0.0388	0.0018	0.0216	0.0121	0.0117	0.0010	0.0214	0.0039	0.0083	0.0404	0.0057	0.0057	0.0052	0.0061	0.0386	0.0053	0.0052	0.0341	0.0323	0.0012	0	0.0130	0.0118	0.0110	0.0006	0.0272	0.0045	0.0057	0.0386	0.393	0.10730	T	0.449	0.12993	T	.	.	.	.	.	.	0.938865	0.07582	N	1.029020	1	0.08975	N	.	.	.	0.88	0.46028	T	-2.41	0.52938	N	0.173	0.18512	-0.9983	0.30395	T	0.075	0.30179	T	8	0.007114768	0.00162	T	0.001884	0.03299	T	.	.	.	.	.	.	0.3100785271206615	0.30920	.	.	0.656455397606	0.60903	T	.	.	.	-0.362263	0.04004	T	-0.758142	0.03179	T	0.0349611403695616	0.02802	T	0.256074	0.03980	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.29032	B	.	.	0.598594	0.09668	6.442	0.62318011989786293	0.06932	0.00198	0.01140	N	AEFI	0.024876	0.01611	N	-0.896977969004185	0.10913	0.523947	-1.12355754252348	0.07251	0.3520434	1.68618632731461E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.44	-1.57	0.08055	-0.459000	0.06805	-20.000000	0.00162	-1.244000	0.01310	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.6127:0.0:0.3873:0.0	4.573	0.11612	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	6058.11	40	chr1	13319928	.	G	A	6058.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.21;DP=1983;ExcessHet=0.1072;FS=0.542;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=43.82;MQRankSum=2.54;QD=11.65;ReadPosRankSum=2.59;SOR=0.622	GT:AD:DP:GQ:PL	0/0:207,0:207:99:0,120,1800	19	0	2	0
chr1	13342607	13342607	C	T	exonic	PRAMEF14	.	nonsynonymous SNV	PRAMEF14:NM_001024661:exon4:c.G1346A:p.R449K,	.	.	503	1001	17	1	0	19	0.00940129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.95	T	0.802	P	0.423	B	0.112	N	1.000	N	1.565	L	0.99	T	-0.932	T	0.079	T	0.083	-0.367	2.272	-3.38	-2.549	-2.228	0.115	0.048	0.00109974540678	.	.	0.0019	0	0.0011	0	0	0.0009	0	0.0085	3.84e-05	1	26028	rs1324541849	0.0003	0.0003	0.0002	0.0004	0.0053	0.0003	0.0003	0.0036	0.0030	2.995e-05	0.0002	0	0	0	0.0053	0.0001	0.0006	0.0029	0.0003	0.0003	0.0002	0.0004	0.0021	0.0002	0.0002	0.0012	0.0009	0	0	0.0009	0	0	0	0	0.0003	0.0010	0.0021	0.626	0.05214	T	0.71	0.05525	T	.	.	.	.	.	.	0.111987	0.02648	N	1.865810	1	0.08975	N	.	.	.	0.99	0.41750	T	-0.73	0.20576	N	0.136	0.13341	-0.9325	0.43770	T	0.079	0.31375	T	10	0.009587437	0.00216	T	0.004777	0.11941	T	0.134	0.36365	.	.	0.262679179196	0.25893	0.2802771960510292	0.27940	2.37714289507	0.96994	.	.	.	.	.	.	-0.351935	0.04606	T	-0.743307	0.03752	T	0.0367927106218515	0.03119	T	0.49835	0.15517	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.33868	B	.	.	0.099966	0.05017	1.569	0.83514178786859039	0.14768	0.00111	0.00708	N	AEFI	0.023594	0.01336	N	-1.22802562129505	0.04598	0.2078294	-1.48912795905479	0.02433	0.1118918	3.51584852855449E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.69	-3.38	0.04577	-1.397000	0.02617	-20.000000	0.00162	0.295000	0.18837	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.3219:0.2422:0.1618:0.2741	0.115	0.00055	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1506.98	41	chr1	13342607	.	C	T	1506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=886;ExcessHet=0.0000;FS=2.136;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.74;MQRankSum=0.837;QD=10.39;ReadPosRankSum=-6.220e-01;SOR=0.925	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,101,1530	20	0	1	0
chr1	13344444	13344444	A	G	exonic	PRAMEF14	.	nonsynonymous SNV	PRAMEF14:NM_001024661:exon3:c.T460C:p.C154R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	1.0	D	0.986	D	0.014	N	1.000	N	2.455	M	2.37	T	-1.037	T	0.111	T	0.284	1.504	10.98	1.69	1.029	0.563	5.479	0.067	0.000546111732021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.374e-06	1.368e-06	2.733e-06	0	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.086	0.40909	T	.	.	.	.	.	.	0.014195	0.01383	N	2.310220	1	0.08975	N	.	.	.	2.37	0.15964	T	-8.18	0.96794	D	0.297	0.33578	-1.0366	0.18357	T	0.111	0.39912	T	10	0.40770823	0.56008	T	0.002532	0.05065	T	0.067	0.19503	0.588	0.71623	0.128874641272	0.12493	0.31889382072476236	0.31802	4.99964404664	0.99994	.	.	.	.	.	.	-0.264241	0.12407	T	-0.617341	0.11395	T	0.873524069786072	0.52338	D	0.446155	0.12501	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.41873	B	.	.	1.770748	0.22522	15.65	0.96299862491050936	0.29344	0.01035	0.03875	N	AEFI	0.049353	0.08517	N	-0.306683882228775	0.28893	1.597556	-0.594830639264703	0.19627	1.053904	3.2648510006376E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.69	1.69	0.23290	-0.132000	0.10446	-14.913000	0.00380	-0.622000	0.04550	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	1.0:0.0:0.0:0.0	5.479	0.16004	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2385.98	36	chr1	13344444	.	A	G	2385.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.731e+00;DP=915;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=49.15;MQRankSum=-4.519e+00;QD=13.79;ReadPosRankSum=-4.600e-02;SOR=0.692	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr1	13345086	13345086	T	G	exonic	PRAMEF14	.	nonsynonymous SNV	PRAMEF14:NM_001024661:exon2:c.A229C:p.T77P,	.	.	461	1035	26	0	0	26	0.0124046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.002	B	0.001	B	0.654	N	1.000	N	2.11	M	2.32	T	-0.964	T	0.124	T	0.367	0.148	4.794	-1.6	-0.360	-1.052	5.887	0.074	0.00170656780334	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1168444445	0.0015	0.0070	0.0015	0.0015	0.0039	0.0014	0.0014	0.0033	0.0031	0.0001	0.0005	0.0006	0.0039	0.0027	0.0007	0.0014	0.0013	0.0013	0.0015	0.0055	0.0014	0.0016	0.0029	0.0013	0.0013	0.0018	0.0015	0.0002	0	0.0024	0.0015	0.0020	0.0019	0	0.0019	0.0020	0.0029	0.157	0.23997	T	0.076	0.42614	T	.	.	.	.	.	.	0.654433	0.05942	N	1.174890	1	0.08975	N	.	.	.	2.32	0.16640	T	-3.45	0.67589	D	0.214	0.23884	-0.9644	0.38330	T	0.124	0.42841	T	10	0.17491472	0.32396	T	0.001886	0.03299	T	0.074	0.21613	0.624	0.75916	0.321697908245	0.31786	0.5765205294588179	0.57581	2.29754585724	0.96441	.	.	.	.	.	.	-0.270216	0.11732	T	-0.625923	0.10726	T	0.053435557547839	0.06093	T	0.186481	0.01942	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.27009	B	.	.	0.785476	0.11556	8.152	0.52104484035962373	0.04685	0.00424	0.02089	N	AEFI	0.056567	0.10468	N	-1.1046098999613	0.06561	0.30236	-1.26941778051577	0.04850	0.2297633	1.57618562141409E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.69	-1.6	0.07977	-2.165000	0.01360	-15.176000	0.00368	0.331000	0.19555	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.5655:0.4345	5.887	0.18133	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	87.98	34	chr1	13345086	.	T	G	87.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.86;DP=689;ExcessHet=0.0000;FS=5.083;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=34.57;MQRankSum=-1.771e+00;QD=2.15;ReadPosRankSum=-2.200e+00;SOR=1.942	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,5:41:99:0|1:13345081_T_C:102,0,1490:13345081	20	0	1	0
chr1	13345161	13345161	G	C	exonic	PRAMEF14	.	nonsynonymous SNV	PRAMEF14:NM_001024661:exon2:c.C154G:p.L52V,	.	.	448	1050	24	0	0	24	0.0112994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.999	D	0.972	D	0.003	N	1.000	N	2.155	M	2.34	T	-1.127	T	0.085	T	0.273	2.019	12.71	1.69	1.250	1.319	6.888	0.057	0.00122823695766	.	.	.	.	.	.	.	.	.	.	.	.	.	rs4083405	0.0065	0.0097	0.0062	0.0068	0.0101	0.0064	0.0064	0.0096	0.0094	0.0017	0.0019	0.0034	0.0010	0.0209	0.0078	0.0061	0.0069	0.0101	0.0086	0.0090	0.0082	0.0091	0.0128	0.0083	0.0081	0.0114	0.0111	0.0023	0	0.0030	0.0055	0.0030	0.0226	0.0069	0.0121	0.0062	0.0128	0.027	0.46513	D	0.04	0.50809	D	.	.	.	.	.	.	0.003069	0.35480	N	0.187155	0.999829	0.20203	N	.	.	.	2.34	0.16351	T	-2.62	0.56301	D	0.314	0.35408	-1.1271	0.01926	T	0.085	0.33014	T	10	0.013097256	0.00279	T	0.002789	0.05810	T	0.060	0.17295	.	.	0.151262610727	0.14761	0.351644659497815	0.35078	3.38724322197	0.99691	.	.	.	.	.	.	-0.235238	0.15962	T	-0.575679	0.14933	T	0.56700986623764	0.35120	D	0.610839	0.23175	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.25592	B	.	.	1.240337	0.16358	12.49	0.99596510723236842	0.73925	0.03915	0.09299	N	AEFI	0.037934	0.05291	N	-0.134736818385502	0.35886	2.06705	-0.392184949578586	0.25228	1.386172	4.36143937790654E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.69	1.69	0.23290	1.543000	0.35754	-1.448000	0.05416	0.478000	0.22058	0.023000	0.19925	0.000000	0.08366	0.003000	0.05239	0.0:0.0:1.0:0.0	6.888	0.23393	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	256.98	34	chr1	13345161	.	G	C	256.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.547;DP=811;ExcessHet=0.0000;FS=10.531;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=35.00;MQRankSum=-8.900e-02;QD=4.43;ReadPosRankSum=-1.018e+00;SOR=2.470	GT:AD:DP:GQ:PL	0/0:79,0:79:99:0,120,1800	20	0	1	0
chr1	13369084	13369084	G	A	exonic	PRAMEF19	.	nonsynonymous SNV	PRAMEF19:NM_001099790:exon3:c.C1423T:p.R475W,	.	.	546	972	4	0	0	4	0.00205339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.0	B	0.0	B	0.257	N	1.000	N	0	N	4.99	T	-0.892	T	0.004	T	0.094	-2.629	0	-0.917	-1.832	0.007	2.186	0.015	0.000584119692343	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1484854132	0.0003	0.0003	0.0002	0.0003	0.0015	0.0002	0.0002	0.0007	0.0007	5.987e-05	0.0003	3.827e-05	0.0010	5.616e-05	0.0015	0.0002	0.0003	0.0009	0.0002	0.0002	0.0002	0.0002	0.0014	0.0001	0.0001	0.0006	0.0005	7.228e-05	0	6.538e-05	0	0.0014	9.432e-05	0	0.0002	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	0.257412	0.03686	N	1.825470	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.8922	0.48740	T	0.004	0.01295	T	10	0.030973375	0.01228	T	0.001985	0.03562	T	0.015	0.02232	.	.	0.043077524339	0.03247	0.38350958008177405	0.38265	.	.	0.410465300083	0.26521	T	0.010765	0.09688	T	-0.381261	0.03059	T	-0.785432	0.02293	T	0.038568110847218	0.03434	T	0.355964	0.08087	T	0.06412637	0.13575	0.024621703	0.00485	0.06412637	0.13575	0.024621703	0.00485	-4.41	0.29693	T	.	.	0.075	0.05535	B	.	.	1.167902	0.15574	11.95	0.036368531075482789	0.00000	0.00004	0.00092	N	AEFI	0.024589	0.01546	N	-1.8054402889908	0.00532	0.02290371	-1.8899536326683	0.00512	0.02271053	1.15653096717381E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.737	-0.917	0.09952	-0.003000	0.12836	-1.302000	0.05771	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4144:0.3216:0.264:0.0	2.186	0.03649	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05	2892.8	36	chr1	13369084	.	G	A	2892.8	.	AC=2;AF=0.050;AN=40;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.050;MQ=58.85;QD=33.25;SOR=2.330	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1201	19	1	0	1
chr1	13370839	13370839	G	A	exonic	PRAMEF19	.	nonsynonymous SNV	PRAMEF19:NM_001099790:exon2:c.C676T:p.R226C,	.	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.001	B	0.001	B	0.005	N	1.000	N	0	N	2.41	T	-1.012	T	0.018	T	0.156	0.056	4.305	1.18	0.954	-0.146	5.785	0.013	0.000920430990895	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1412698391	1.847e-05	1.847e-05	1.089e-05	2.613e-05	0.0002	1.265e-05	1.084e-05	6.51e-05	4.757e-05	0	0	0	0.0002	0	0	8.095e-06	3.312e-05	0.0001	2.627e-05	2.625e-05	1.285e-05	4.029e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.005345	0.32875	N	0.284843	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-1.0116	0.26416	T	0.018	0.07612	T	10	0.08485651	0.14265	T	0.001227	0.01633	T	0.036	0.09122	0.573	0.69695	0.043077524339	0.03247	0.2558817121020374	0.25502	.	.	0.584110200405	0.50664	T	0.022394	0.17275	T	-0.337451	0.05566	T	-0.722501	0.04675	T	0.0824585556983948	0.10300	T	0.423058	0.11286	T	0.07194118	0.15967	0.027022926	0.00826	0.07194118	0.15966	0.027022926	0.00825	-4.696	0.33355	T	.	.	0.107	0.20235	B	.	.	0.824056	0.11954	8.514	0.56715055676453197	0.05612	0.00490	0.02322	N	AEFI	0.033010	0.03838	N	-1.13759831770236	0.05987	0.2744006	-1.19324886474576	0.06022	0.2886346	2.36541888946178E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.18	1.18	0.20058	-0.144000	0.10263	-1.468000	0.05371	-1.227000	0.01331	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.0:1.0:0.0	5.785	0.17591	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2458.98	33	chr1	13370839	.	G	A	2458.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.49;DP=1133;ExcessHet=0.0000;FS=5.254;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=-7.700e-02;SOR=0.500	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1180	20	0	1	0
chr1	13390412	13390412	G	A	exonic	PRAMEF17	.	nonsynonymous SNV	PRAMEF17:NM_001099851:exon2:c.G359A:p.R120K,	.	.	464	1052	6	0	0	6	0.0028436	.	.	3378947	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.83	T	0.001	B	0.005	B	0.000	N	1.000	N	1.245	L	3.65	T	-0.972	T	0.011	T	0.068	-1.110	0.134	-2.78	-0.925	-1.477	2.011	0.034	0.00103778457957	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1330284625	6.169e-06	0.0001	5.456e-06	6.889e-06	5.399e-06	2.9e-06	2.1e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.399e-06	4.985e-05	0	1.321e-05	0.0008	1.291e-05	1.352e-05	1.48e-05	2.2e-06	8.2e-07	.	.	0	0	0	0	0	9.479e-05	0	1.48e-05	0	0	0.912	0.02355	T	0.816	0.03875	T	0.001	0.07471	B	0.004	0.10090	B	0.000000	0.00162	N	5.948600	1	0.08975	N	0.65	0.16133	N	3.65	0.04267	T	-0.11	0.08653	N	0.076	0.05037	-0.9678	0.37652	T	0.012	0.04463	T	10	0.05182615	0.05124	T	0.001038	0.01167	T	0.044	0.11924	0.447	0.50629	0.043077524339	0.03247	0.11226494324557337	0.11155	1.84208169535	0.92179	0.509003162384	0.40082	T	0.006872	0.06296	T	-0.384995	0.02896	T	-0.790795	0.02143	T	0.0486665759784795	0.05263	T	0.060194	0.00438	T	0.06815594	0.14824	0.048504375	0.07219	0.06815594	0.14823	0.048504375	0.07218	-4.095	0.25216	T	.	.	0.088	0.11797	B	.	.	-0.624693	0.01505	0.095	0.50562789387165252	0.04406	0.00131	0.00809	N	AEFI	0.021072	0.00899	N	-1.32598553024991	0.03381	0.1509159	-1.43675981179416	0.02892	0.1338983	2.83335449001552E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.957	-0.164	0.12705	-2.106000	0.01426	-15.955000	0.00333	-1.313000	0.01233	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4084:0.0:0.5916:0.0	2.938	0.05466	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	94.98	39	chr1	13390412	.	G	A	94.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.730e-01;DP=1492;ExcessHet=0.0000;FS=1.983;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.20;MQRankSum=-8.136e+00;QD=0.40;ReadPosRankSum=-2.940e+00;SOR=1.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:219,19:238:99:0|1:13390412_G_A:109,0,8985:13390412	20	0	1	0
chr1	13390415	13390415	C	T	exonic	PRAMEF17	.	nonsynonymous SNV	PRAMEF17:NM_001099851:exon2:c.C362T:p.A121V,	.	.	466	1050	6	0	0	6	0.002849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.002	B	0.005	B	0.098	N	1.000	N	1.3	L	3.6	T	-0.958	T	0.011	T	0.061	-0.183	3.108	-2.78	-1.246	-1.467	0.045	0.014	0.00116004399388	.	.	8.519e-06	0.0001	0	0	0	0	0	0	3.84e-05	1	26028	rs777853130	1.371e-05	0.0001	1.091e-05	1.653e-05	2.993e-05	8.95e-06	7.28e-06	6.53e-06	5.03e-06	2.993e-05	2.237e-05	0	2.52e-05	0	0	1.17e-05	4.985e-05	1.161e-05	2.642e-05	0.0008	3.874e-05	1.352e-05	0.0002	8.17e-06	5.16e-06	7.99e-06	2.99e-06	4.82e-05	0	0	0	0.0002	9.473e-05	0	0	0	0	0.322	0.13479	T	0.352	0.17372	T	0.002	0.09854	B	0.005	0.11217	B	0.098244	0.02522	N	1.969230	1	0.08975	N	0.765	0.19305	N	3.6	0.04494	T	-1.47	0.35991	N	0.043	0.01577	-0.9571	0.39717	T	0.012	0.04653	T	10	0.056393147	0.06316	T	0.001682	0.02779	T	0.014	0.01968	0.469	0.54214	0.043077524339	0.03247	0.14030672169975988	0.13953	1.81049548264	0.91795	0.482301414013	0.36374	T	0.014339	0.12223	T	-0.56222	0.00246	T	-0.860724	0.00835	T	0.0282441187680015	0.01724	T	0.174383	0.01678	T	0.031644277	0.03042	0.031398028	0.01722	0.031644277	0.03042	0.031398028	0.01722	-4.508	0.30993	T	.	.	0.081	0.08417	B	.	.	-0.284359	0.02687	0.348	0.68441518166701387	0.08659	0.00043	0.00351	N	AEFI	0.014324	0.00223	N	-1.30208531714761	0.03652	0.1635024	-1.45236590343535	0.02749	0.127	5.98087087345468E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.957	-1.91	0.07225	-1.348000	0.02736	-12.594000	0.00514	-0.386000	0.05369	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3559:0.3466:0.0:0.2976	1.585	0.02482	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	97.98	39	chr1	13390415	.	C	T	97.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.904e+00;DP=1490;ExcessHet=0.0000;FS=1.983;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.29;MQRankSum=-8.262e+00;QD=0.41;ReadPosRankSum=-3.227e+00;SOR=1.009	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:218,19:237:99:0|1:13390412_G_A:112,0,8964:13390412	20	0	1	0
chr1	13392272	13392272	T	C	exonic	PRAMEF17	.	nonsynonymous SNV	PRAMEF17:NM_001099851:exon3:c.T1195C:p.C399R,	.	.	515	999	7	1	0	9	0.0044843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.345	N	1.000	N	-1.825	N	0.99	T	-0.994	T	0.024	T	0.073	-2.811	0	-0.98	-0.818	-1.458	5.439	0.018	0.00088713680111	.	0.00599042	0.0040	0	0	0	0	0	0	0.0405	0.0011526	30	26028	rs576034885	0.0009	0.0009	0.0006	0.0013	0.0133	0.0009	0.0009	0.0127	0.0124	0.0001	4.473e-05	0	0.0001	0	0.0005	8.545e-05	0.0014	0.0133	0.0007	0.0007	0.0004	0.0010	0.0187	0.0005	0.0005	0.0156	0.0144	4.811e-05	0	0	0	0.0006	0	0	5.882e-05	0	0.0187	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.344720	0.04209	N	1.557610	1	0.08975	N	-1.32	0.00691	N	0.99	0.41750	T	2.5	0.00234	N	0.021	0.00339	-1.0323	0.19713	T	0.021	0.08963	T	10	0.0054038167	0.00119	T	.	.	.	0.019	0.03383	0.4	0.42917	0.043077524339	0.03247	0.19658248093613728	0.19575	2.68827321764	0.98538	0.502897381783	0.39231	T	0.004757	0.04174	T	-0.379125	0.03155	T	-0.782363	0.02383	T	0.0273867890650157	0.01599	T	0.180082	0.01793	T	0.06392884	0.13513	0.11678504	0.28192	0.06392884	0.13512	0.11678504	0.28191	-2.628	0.06719	T	.	.	0.042	0.00023	B	.	.	-0.414957	0.02158	0.209	0.13397746507913658	0.00263	0.00032	0.00291	N	AEFI	0.010824	0.00084	N	-2.16041104898345	0.00094	0.004020257	-2.14393565467231	0.00149	0.006563891	1.1172261495604E-4	0.05269	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.09	-1.68	0.07773	-0.908000	0.04171	-20.000000	0.00162	-0.407000	0.05276	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2552:0.2925:0.0:0.4523	2.058	0.03368	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2992.98	163	chr1	13392272	.	T	C	2992.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.116e+00;DP=1117;ExcessHet=0.0000;FS=6.765;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.36;ReadPosRankSum=-1.514e+00;SOR=1.081	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:64,0:64:99:.:.:0,99,1485	20	0	1	0
chr1	13416392	13416392	C	T	exonic	PRAMEF20	.	nonsynonymous SNV	PRAMEF20:NM_001099852:exon2:c.C38T:p.A13V,	.	.	433	1070	19	0	0	19	0.00880037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	0.000	D	1.000	N	2.085	M	3.31	T	-1.063	T	0.025	T	0.202	1.475	10.88	0.567	0.218	-0.174	4.122	0.038	0.000861844621387	.	.	0.0042	0	0	0.0035	0	0.0071	0	0	0.0001537	4	26028	rs764804487	0.0009	0.0009	0.0009	0.0009	0.0015	0.0008	0.0008	0.0009	0.0009	0.0008	0.0009	0.0015	0.0004	0.0002	0.0015	0.0010	0.0008	0.0001	0.0009	0.0045	0.0010	0.0008	0.0011	0.0008	0.0007	0.0009	0.0008	0.0009	0	0.0008	0.0009	0.0008	0.0002	0.0035	0.0011	0.0014	0	0.014	0.53172	D	0.039	0.51112	D	.	.	.	.	.	.	0.000290	0.46274	D	0.148518	1	0.08975	N	.	.	.	3.31	0.06291	T	-3.25	0.65283	D	0.252	0.28498	-1.0626	0.11118	T	0.025	0.10643	T	8	0.011532217	0.00252	T	8.62E-4	0.00755	T	0.038	0.09825	.	.	0.0138822411134	0.00435	0.39221524248051254	0.39136	.	.	0.547596812248	0.45518	T	0.147362	0.48542	T	-0.314153	0.07387	T	-0.689035	0.06445	T	0.0238544619380555	0.01126	T	0.744526	0.36463	T	0.021667529	0.00781	0.040218234	0.04296	0.021667529	0.00781	0.040218234	0.04295	-7.23	0.55696	T	.	.	0.281	0.53293	B	.;.	.;.	1.297342	0.16988	12.89	0.97166827344432583	0.32656	0.00828	0.03334	N	AEFI	0.028801	0.02606	N	-0.735502719796307	0.15029	0.7538799	-0.942897332314359	0.11088	0.5627625	4.4732472864473E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.51	0.567	0.16510	-0.481000	0.06631	-5.194000	0.01811	-1.036000	0.01678	0.007000	0.17678	0.000000	0.08366	0.000000	0.00833	0.0:0.7721:0.0:0.2279	4.122	0.09581	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	103.98	36	chr1	13416392	.	C	T	103.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.211e+00;DP=860;ExcessHet=0.0000;FS=1.035;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.85;MQRankSum=-1.247e+01;QD=0.61;ReadPosRankSum=-2.500e-01;SOR=0.552	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,14:170:99:0|1:13416350_G_T:118,0,6508:13416350	20	0	1	0
chr1	13416398	13416398	G	A	exonic	PRAMEF20	.	nonsynonymous SNV	PRAMEF20:NM_001099852:exon2:c.G44A:p.R15Q,	.	.	434	1071	17	0	0	17	0.00787402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.047	B	0.01	B	0.917	N	1.000	N	.	.	2.95	T	-0.972	T	0.009	T	0.058	-2.343	0.004	-3.5	-1.757	-0.724	3.158	0.007	0.000954738595631	.	0.000798722	0.0044	0	0	0	0	0.0083	.	0	0.0001537	4	26028	rs535426833	0.0024	0.0024	0.0025	0.0023	0.0030	0.0024	0.0023	0.0030	0.0029	0.0013	0.0003	0	0.0002	7.488e-05	0.0009	0.0030	0.0013	1.16e-05	0.0015	0.0050	0.0018	0.0012	0.0025	0.0014	0.0013	0.0022	0.0021	0.0010	0	0.0009	0	0	9.579e-05	0	0.0025	0.0014	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.917481	0.08510	N	0.958104	1	0.08975	N	.	.	.	2.95	0.09635	T	0.96	0.01488	N	0.062	0.03392	-0.9645	0.38310	T	0.007	0.02244	T	8	0.0063766837	0.00144	T	9.55E-4	0.00957	T	0.011	0.01250	.	.	0.0138822411134	0.00435	0.19450107170321504	0.19368	.	.	0.374819844961	0.21521	T	0.004103	0.03512	T	-0.420253	0.01704	T	-0.841441	0.01077	T	0.00914196568871131	0.00115	T	0.134887	0.01066	T	0.03570078	0.04252	0.041647475	0.04782	0.03570078	0.04251	0.041647475	0.04782	-1.743	0.02345	T	.	.	0.072	0.04436	B	.;.	.;.	0.294538	0.06705	3.213	0.44568382939539153	0.03436	0.00056	0.00418	N	AEFI	0.021635	0.00985	N	-1.25016189529583	0.04297	0.1936879	-1.35657874606101	0.03728	0.1745389	1.60029541903202E-4	0.05650	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.55	-2.74	0.05582	-0.353000	0.07740	-13.626000	0.00448	-0.308000	0.06107	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.4376:0.0:0.3125:0.2499	2.103	0.03461	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	115.98	36	chr1	13416398	.	G	A	115.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.307e+00;DP=856;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.82;MQRankSum=-1.232e+01;QD=0.70;ReadPosRankSum=-7.180e-01;SOR=0.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,14:166:99:0|1:13416350_G_T:130,0,6340:13416350	20	0	1	0
chr1	13416415	13416415	G	C	exonic	PRAMEF20	.	nonsynonymous SNV	PRAMEF20:NM_001099852:exon2:c.G61C:p.E21Q,	.	.	426	1084	12	0	0	12	0.00550459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.018	B	0.135	B	0.293	N	1.000	N	.	.	3.25	T	-0.938	T	0.013	T	0.063	-1.737	0.011	-3.5	-1.628	-0.931	5.546	0.038	0.000469852561305	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs199792661	6.842e-07	6.84e-07	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	1.327e-05	0.0026	2.594e-05	0	6.616e-05	2.21e-06	8.3e-07	.	.	2.411e-05	0	6.616e-05	0	0	0	0	0	0	0	0.628	0.05183	T	0.411	0.14500	T	.	.	.	.	.	.	0.292666	0.14740	N	0.662450	1	0.08975	N	.	.	.	3.25	0.06762	T	-0.49	0.15578	N	0.062	0.03502	-0.9818	0.34585	T	0.009	0.03271	T	8	0.052461863	0.05283	T	4.7E-4	0.00124	T	0.062	0.17934	0.612	0.74535	0.0138822411134	0.00435	0.2718259259719314	0.27095	.	.	0.475276619196	0.35408	T	0.026643	0.19675	T	-0.445679	0.01197	T	-0.877963	0.00671	T	0.0246847622950291	0.01231	T	0.475352	0.14216	T	0.030638695	0.02761	0.026205024	0.00698	0.030638695	0.02760	0.026205024	0.00698	-3.0	0.10181	T	.	.	0.086	0.10739	B	.;.	.;.	-0.953561	0.00840	0.029	0.083430819691428529	0.00063	0.00161	0.00961	N	AEFI	0.028939	0.02640	N	-1.89533364157793	0.00351	0.01507821	-2.07015799919646	0.00216	0.009533919	0.0169436941713714	0.12893	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.55	-3.09	0.05006	-1.443000	0.02512	-6.191000	0.01470	-2.725000	0.00204	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3735:0.1983:0.4282:0.0	4.511	0.11320	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	109.98	36	chr1	13416415	.	G	C	109.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.581e+00;DP=858;ExcessHet=0.0000;FS=1.036;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.83;MQRankSum=-1.239e+01;QD=0.65;ReadPosRankSum=-6.930e-01;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,14:168:99:0|1:13416350_G_T:124,0,6424:13416350	20	0	1	0
chr1	13583873	13583873	C	G	exonic	PDPN	.	nonsynonymous SNV	PDPN:NM_198389:exon1:c.C68G:p.A23G,	.	.	375	1144	2	1	0	4	0.0017452	.	.	2345088	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.023	B	0.017	B	0.006	N	1.000	N	0	N	0.89	T	-1.020	T	0.050	T	0.173	1.873	12.22	-4.02	-0.315	0.191	1.503	0.139	0.0101943811564	.	.	8.843e-05	0	0	0	0	0.0001	0	0.0002	6.47e-05	10	154602	rs773006448	5.293e-05	5.267e-05	3.419e-05	7.188e-05	0.0019	4.298e-05	3.972e-05	0.0011	0.0008	0	0	0	0	0	0.0019	2.436e-05	6.665e-05	0.0004	3.281e-05	3.28e-05	6.421e-05	0	0.0002	1.26e-05	7.97e-06	1.171e-05	6.25e-06	0	0	0	0	0.0002	0	0.0034	4.409e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.023	0.18885	B	0.017	0.18140	B	0.006465	0.01127	N	20.648400	1	0.08975	N	.	.	.	0.89	0.45636	T	-0.74	0.20791	N	0.09	0.21839	-1.0199	0.23747	T	0.050	0.21378	T	10	0.029659152	0.01092	T	0.010194	0.26434	T	0.139	0.37390	0.04	0.00032	0.338110398507	0.33423	0.03206040041816573	0.03154	0.385878617813	0.39878	0.373702406883	0.21362	T	.	.	.	-0.449232	0.01141	T	-0.577091	0.14805	T	0.158721819720124	0.17776	T	0.381362	0.09225	T	.	.	.	.	.	.	.	.	-3.311	0.13879	T	.	.	0.101	0.17953	B	.;.;.	.;.;.	0.794290	0.11650	8.233	0.93710322476809604	0.23627	0.05848	0.11792	N	AEFDBHCIJ	0.082902	0.16790	N	-1.36105192789669	0.03012	0.1338817	-1.41125972225405	0.03139	0.1458292	0.9999998561557	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.52208	0.10781	0	0.564101	0.26826	0	.	.	4.43	-4.02	0.03764	0.088000	0.14821	-0.917000	0.06933	-0.305000	0.06155	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4977:0.1871:0.1255:0.1897	1.503	0.02332	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	808.98	36	chr1	13583873	.	C	G	808.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.153e+00;DP=802;ExcessHet=0.0000;FS=0.853;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.70;ReadPosRankSum=-1.250e+00;SOR=0.560	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1129	20	0	1	0
chr1	13781565	13781567	AAG	-	exonic	PRDM2	.	nonframeshift deletion	PRDM2:NM_001007257:exon3:c.3167_3169del:p.E1060del	.	.	427	1086	8	1	0	10	0.00458295	.	.	2805766	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0052	0.00159744	0.0045	0.0006	0.0026	0.0011	0.0017	0.0066	0.0078	0.0025	0.0008837	23	26028	rs147285105	0.0059	0.0059	0.0059	0.0058	0.0069	0.0058	0.0057	0.0068	0.0067	0.0006	0.0025	0.0023	0.0002	0.0020	0.0043	0.0069	0.0050	0.0029	0.0040	0.0040	0.0043	0.0038	0.0066	0.0038	0.0037	0.0061	0.0059	0.0012	0.0055	0.0042	0.0023	0.0002	0.0012	0.0068	0.0066	0.0052	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1428.94	85	chr1	13781564	.	AAAG	A	1428.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.906;DP=1771;ExcessHet=0.0000;FS=3.408;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.81;ReadPosRankSum=-2.436e+00;SOR=0.376	GT:AD:DP:GQ:PL	0/0:90,0:90:99:0,120,1800	20	0	1	0
chr1	15044002	15044002	C	T	exonic	KAZN	.	nonsynonymous SNV	KAZN:NM_001017999:exon4:c.C287T:p.A96V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	1.0	D	0.994	D	0.000	D	1.000	D	1.995	M	0.76	T	-0.688	T	0.281	T	0.744	4.791	27.0	5.57	2.620	7.532	18.551	0.143	0.0430029602211	.	0.00119808	0.0005	0.0001	0	0.0063	0	0	0	0.0002	0.0004075	63	154602	rs199800318	0.0001	0.0001	0.0002	0.0001	0.0044	0.0001	0.0001	0.0039	0.0037	0	0	0	0.0044	0	0	4.503e-06	0.0001	9.336e-05	0.0002	0.0002	0.0002	0.0003	0.0066	0.0002	0.0002	0.0048	0.0042	0	0	0	0	0.0066	0	0	2.94e-05	0	0.0002	0.017	0.51248	D	0.122	0.92824	T	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	0.76	0.49919	T	-1.58	0.44852	N	0.822	0.83371	-0.6884	0.60983	T	0.281	0.65299	T	10	0.007834524	0.00178	T	0.043003	0.60760	D	0.143	0.38195	.	.	0.627068036885	0.62402	0.6215707748682917	0.62090	1.69032178031	0.90120	0.872025489807	0.92856	D	0.060589	0.31428	T	-0.237538	0.15665	T	-0.106164	0.62915	T	0.180557977292273	0.19270	T	0.974702	0.93547	D	0.27392992	0.50459	0.23580341	0.48834	0.27392992	0.50459	0.23580341	0.48833	-12.032	0.87173	D	.	.	0.540	0.70361	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.342191	0.89632	31	0.99903392604941688	0.97502	0.97606	0.75858	D	AEFDBI	0.932713	0.92349	D	0.551409454634769	0.70168	5.462068	0.51011821498009	0.68668	5.252154	0.999999999946801	0.74766	0.675385	0.55134	0	0.588015	0.36545	0	0.693117	0.63056	0	0.699875	0.68795	0	.	.	5.57	5.57	0.84021	7.614000	0.82196	7.535000	0.59982	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.745000	0.35611	0.0:1.0:0.0:0.0	18.551	0.91016	977	0.04225	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1398.98	40	chr1	15044002	.	C	T	1398.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=881;ExcessHet=0.0000;FS=0.745;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=-2.490e-01;SOR=0.841	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1216	20	0	1	0
chr1	15219723	15219723	G	A	exonic	TMEM51	.	nonsynonymous SNV	TMEM51:NM_001136217:exon3:c.G742A:p.D248N	.	.	442	1078	2	0	0	2	0.000926784	.	.	2193940	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.24	T	0.001	B	0.002	B	0.068	N	1.000	N	1.78	L	1.46	T	-1.031	T	0.063	T	0.043	1.245	10.05	1.26	-0.023	.	8.076	0.044	0.00614277032744	.	.	0.0001	0	0.0002	0	0	0.0001	0	0.0004	0.0001035	16	154602	rs201593485	9.652e-05	9.645e-05	8.172e-05	0.0001	0.0036	8.315e-05	7.854e-05	0.0024	0.0021	5.985e-05	0.0001	0.0008	0.0001	0	0.0036	4.678e-05	0.0002	0.0003	7.226e-05	7.219e-05	7.711e-05	6.718e-05	0.0002	3.97e-05	3.126e-05	7.98e-06	2.98e-06	4.814e-05	0	6.541e-05	0.0006	0	0	0.0034	2.94e-05	0.0009	0.0002	0.061	0.37118	T	0.21	0.26714	T	0.001	0.07471	B	0.002	0.06944	B	0.067905	0.21708	N	0.497838	1	0.08975	N	1.845	0.48678	L	1.46	0.32238	T	-1.83	0.42957	N	0.135	0.13626	-1.0309	0.20163	T	0.063	0.26279	T	10	0.028413683	0.00973	T	0.006143	0.16082	T	0.044	0.11924	.	.	0.082315109003	0.07666	0.2662570022611763	0.26538	0.178012152837	0.20024	0.390406668186	0.23728	T	0.037717	0.24578	T	-0.521103	0.00434	T	-0.675787	0.07243	T	0.0207159595371146	0.00771	T	0.70313	0.31322	T	0.042115264	0.06328	0.046096638	0.06349	0.042115264	0.06327	0.046096638	0.06348	-4.07	0.24846	T	.	.	0.070	0.03588	B	.;.;.;.	.;.;.;.	1.821933	0.23154	15.91	0.98471273246507596	0.41861	0.27743	0.23362	N	AEFBI	0.071042	0.14126	N	-0.665100579618749	0.17022	0.8723889	-0.678085803604801	0.17509	0.9313425	0.992359115299666	0.32809	0.732398	0.92422	0	0.659037	0.61890	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.46	1.26	0.20534	0.759000	0.26127	4.405000	0.43261	0.676000	0.76740	0.150000	0.23655	1.000000	0.68203	0.308000	0.24690	0.3419:0.0:0.6581:0.0	8.076	0.29878	970	0.06235	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	573.98	34	chr1	15219723	.	G	A	573.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=824;ExcessHet=0.0000;FS=1.056;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.11;ReadPosRankSum=-4.400e-01;SOR=0.997	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,101,1401	20	0	1	0
chr1	15251837	15251837	C	T	exonic	FHAD1	.	nonsynonymous SNV	FHAD1:NM_052929:exon2:c.C53T:p.T18I,	.	.	402	1118	2	0	0	2	0.000893655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.999	D	0.000	U	1.000	D	0.96	L	-2.06	D	0.234	D	0.614	D	0.712	3.145	16.52	4.96	2.579	1.929	13.579	0.530	0.173684173235	.	.	4.32e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs759708313	5.714e-06	5.472e-06	1.409e-06	1.014e-05	8.835e-05	2.46e-06	1.78e-06	4.063e-05	2.853e-05	0	0	0	0	0	0	9.267e-07	0	8.835e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000037	0.55875	U	0.000000	0.514055	0.31623	N	1.01	0.25309	L	-2.06	0.85875	D	-3.08	0.63323	D	0.46	0.49692	0.234	0.86485	D	0.614	0.86363	D	10	0.3195651	0.49341	T	0.173684	0.85030	D	0.530	0.80188	0.544	0.65731	0.255777322467	0.25185	0.46373410468018794	0.46292	.	.	0.710314154625	0.68639	T	0.009301	0.08472	T	0.00130689	0.51834	T	0.000769326	0.70386	D	0.904075264930725	0.55744	D	0.764224	0.39120	T	0.2210155	0.44669	0.24311243	0.49748	0.2210155	0.44669	0.24311243	0.49746	-4.91	0.35847	T	.	.	0.899	0.82688	P	.;.	.;.	3.946097	0.57774	23.9	0.99902847722839527	0.97426	0.62260	0.31728	D	AEFBI	0.112386	0.22216	N	0.387490045166748	0.60744	4.266731	0.352205500166054	0.58641	4.035792	0.732935102612403	0.23080	0.549168	0.22868	0	0.573078	0.20572	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	4.96	4.96	0.65153	2.165000	0.42023	3.944000	0.40624	0.597000	0.34315	0.984000	0.35821	0.999000	0.35428	0.968000	0.53726	0.0:1.0:0.0:0.0	13.579	0.61354	963	0.08280	Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain;Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1571.98	35	chr1	15251837	.	C	T	1571.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.223;DP=832;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-5.000e-02;SOR=0.671	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr1	15445660	15445660	G	A	exonic	CTRC	.	nonsynonymous SNV	CTRC:NM_007272:exon7:c.G703A:p.V235I,	.	YES	415	1086	21	0	0	21	0.00957592	.	.	277389	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.996	D	0.969	D	0.000	D	1.000	D	2.35	M	-3.46	D	0.983	D	0.897	D	0.82	3.594	18.30	4.38	2.454	5.592	16.050	0.797	0.138657935058	7.7e-05	0.00119808	0.0012	9.625e-05	0.0005	0	0	0.0003	0	0.0068	0.0009832	152	154602	rs140993290	0.0007	0.0007	0.0004	0.0009	0.0079	0.0006	0.0006	0.0074	0.0072	0.0003	0.0002	0.0005	0	3.744e-05	0.0050	0.0002	0.0005	0.0079	0.0005	0.0005	0.0003	0.0007	0.0083	0.0004	0.0004	0.0063	0.0056	9.624e-05	0	6.538e-05	0.0014	0.0002	0	0.0034	0.0003	0.0009	0.0083	0.006	0.61437	D	0.007	0.69154	D	0.996	0.68779	D	0.969	0.72001	D	0.000067	0.52346	D	0.126644	0.999064	0.81001	D	1.1	0.28011	L	-3.46	0.94508	D	-0.93	0.24898	N	0.524	0.55366	0.983	0.96904	D	0.897	0.96582	D	10	0.025823325	0.00765	T	0.138658	0.82115	D	0.797	0.93346	.	.	0.824012481446	0.82234	0.5726204761015677	0.57190	0.633953125668	0.57268	0.422646105289	0.28200	T	0.259948	0.63127	T	-0.0207142	0.48752	T	0.201614	0.83215	D	0.0184037413051345	0.00557	T	0.783522	0.42019	T	0.6675369	0.76301	0.7689695	0.86357	0.6858084	0.77285	0.71754605	0.83327	-10.422	0.76398	D	0.3872254015445177	0.48088	0.208	0.43448	B	.	.	4.622077	0.73408	26.0	0.99874658187836918	0.95160	0.96887	0.71481	D	AEFGBI	0.763965	0.70090	D	0.623640137267991	0.74673	6.172706	0.536749447529981	0.70482	5.51161	0.996679899047473	0.34917	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	4.38	4.38	0.52019	3.662000	0.54249	11.510000	0.92999	0.676000	0.76740	0.936000	0.32490	1.000000	0.68203	0.838000	0.39538	0.0:0.0:1.0:0.0	16.050	0.80559	917	0.20147	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1578.98	37	chr1	15445660	.	G	A	1578.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.930;DP=893;ExcessHet=0.0000;FS=0.695;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.38;ReadPosRankSum=0.736;SOR=0.580	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,114,1710	20	0	1	0
chr1	15462809	15462809	G	T	exonic	CELA2A	.	nonsynonymous SNV	CELA2A:NM_033440:exon4:c.G304T:p.V102F,	.	.	430	1073	18	1	0	20	0.00923361	.	.	3416357	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.989	D	0.945	D	0.147	U	0.900	D	2.46	M	-3.67	D	0.903	D	0.854	D	0.719	3.656	18.59	4.12	1.862	1.748	13.895	0.649	.	0.0007	0.00279553	0.0036	0	0.0004	0.0031	0.0186	0.0021	0.0088	0.0079	0.0029883	462	154602	rs150179544	0.0016	0.0016	0.0014	0.0018	0.0078	0.0016	0.0015	0.0073	0.0072	0	0.0002	0.0002	0.0040	0.0160	0.0049	0.0005	0.0019	0.0078	0.0019	0.0019	0.0013	0.0026	0.0068	0.0018	0.0017	0.0050	0.0044	4.815e-05	0	0.0002	0.0003	0.0041	0.0153	0	0.0010	0.0019	0.0068	0.002	0.72154	D	0.024	0.56640	D	0.989	0.62824	D	0.945	0.68163	D	0.146777	0.18102	U	0.445960	0.899929	0.36147	D	3.045	0.86684	M	-3.67	0.95247	D	-3.74	0.71042	D	0.624	0.63883	0.903	0.95714	D	0.854	0.95118	D	10	0.014178455	0.00299	T	.	.	.	0.649	0.86736	.	.	0.785751863453	0.78376	0.8212802996841503	0.82085	1.17828049407	0.79939	0.532764673233	0.43424	T	0.715159	0.91905	D	-0.0402213	0.45916	T	0.174154	0.81654	D	0.0738493014811126	0.09182	T	0.940606	0.77652	D	0.76030487	0.81471	0.7676706	0.86279	0.76030487	0.81473	0.7676706	0.86280	-11.626	0.82982	D	0.6794487872110885	0.75564	0.864	0.80534	P	.	.	2.957774	0.39377	20.9	0.99241424667398126	0.56565	0.48535	0.28229	N	AEFGBCI	0.291090	0.40230	N	0.10673053930489	0.46777	2.912894	-0.0860034487323224	0.35968	2.087332	0.999996150894289	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.12	4.12	0.47504	2.500000	0.45040	5.511000	0.48798	0.574000	0.29054	0.596000	0.27714	1.000000	0.68203	0.008000	0.08271	0.0:0.0:1.0:0.0	13.895	0.63267	917	0.20147	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1335.98	36	chr1	15462809	.	G	T	1335.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.895;DP=915;ExcessHet=0.0000;FS=8.265;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.77;ReadPosRankSum=-1.166e+00;SOR=0.759	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr1	15487349	15487349	G	T	exonic	CELA2B	.	nonsynonymous SNV	CELA2B:NM_015849:exon7:c.G704T:p.G235V,	.	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.003	N	0.988	D	-2.81	N	-2.66	D	-0.729	T	0.127	T	0.255	-2.039	0.006	3.63	0.748	1.104	5.081	0.199	0.226521705804	0.0059	0.00139776	0.0048	0.0017	0.0016	0.0005	0.0008	0.0076	0.0022	0.0014	0.0050193	776	154602	rs141194336	0.0072	0.0072	0.0074	0.0070	0.0089	0.0071	0.0070	0.0087	0.0087	0.0012	0.0015	0.0010	0.0005	0.0009	0.0012	0.0089	0.0058	0.0012	0.0044	0.0044	0.0048	0.0041	0.0085	0.0041	0.0040	0.0080	0.0077	0.0012	0	0.0014	0.0009	0.0008	0.0003	0	0.0085	0.0024	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.003371	0.35041	N	0.119730	0.987719	0.40637	D	-0.935	0.01286	N	-2.66	0.90272	D	4.5	0.00036	N	0.295	0.33360	-0.7286	0.59034	T	0.127	0.43442	T	10	0.045677453	0.03666	T	0.226522	0.88048	D	0.199	0.48268	.	.	0.242244723065	0.23846	0.6253154634147269	0.62464	0.381318654859	0.39492	0.301649451256	0.10646	T	0.115191	0.43359	T	-0.366627	0.03768	T	-0.289023	0.45875	T	0.000967562372855269	0.00009	T	0.691431	0.30091	T	0.045571018	0.07481	0.0530779	0.08872	0.045571018	0.07481	0.0530779	0.08872	0.671	0.00180	T	.	.	0.277	0.51014	B	.	.	0.694458	0.10630	7.332	0.64187098920647601	0.07425	0.06624	0.12640	N	AEFDBI	0.119412	0.23307	N	-1.26963941026101	0.04046	0.1818906	-0.99910573799848	0.09805	0.4899911	0.0104447363899148	0.12026	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.77	3.63	0.40741	1.010000	0.29500	-2.055000	0.04281	-0.161000	0.11593	1.000000	0.71638	0.000000	0.08366	0.088000	0.17685	0.0:0.0965:0.1913:0.7123	5.081	0.13993	922	0.19044	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	rs141194336	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1555.98	40	chr1	15487349	.	G	T	1555.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.660e-01;DP=1433;ExcessHet=0.0000;FS=1.408;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=1.46;SOR=0.538	GT:AD:DP:GQ:PL	0/0:108,0:108:99:0,120,1800	20	0	1	0
chr1	15518245	15518245	C	T	exonic	CASP9	.	nonsynonymous SNV	CASP9:NM_001229:exon2:c.G283A:p.A95T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.073	B	0.06	B	0.141	N	1.000	N	0.895	L	4.64	T	-0.936	T	0.014	T	0.276	1.481	10.90	1.3	0.164	-0.009	4.527	0.028	0.00506188088607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.566e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.194	0.27783	T	0.484	0.16086	T	0.073	0.24078	B	0.06	0.26717	B	0.141159	0.18286	N	0.585612	0.999994	0.08975	N	1.24	0.30952	L	4.62	0.07920	T	-0.74	0.21429	N	0.074	0.13769	-0.9358	0.43272	T	0.014	0.05417	T	10	0.053319484	0.05503	T	0.005062	0.12815	T	0.028	0.06331	0.254	0.19378	0.392702134506	0.38879	0.24656893987794953	0.24570	0.116016811942	0.13085	0.25747859478	0.04595	T	0.102883	0.41102	T	-0.256968	0.13258	T	-0.606893	0.12239	T	0.0615760572254658	0.07414	T	0.579442	0.27600	T	0.14816163	0.33838	0.08891712	0.20761	0.14816163	0.33837	0.08891712	0.20760	-3.89	0.22152	T	.	.	0.080	0.27910	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.452592	0.08228	4.965	0.83915295214700614	0.14992	0.14802	0.18593	N	AEFDBI	0.138554	0.25989	N	-1.40255826153729	0.02616	0.1157809	-1.42818620782576	0.02973	0.137829	0.956065343669796	0.28225	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	3.29	1.3	0.20778	-0.072000	0.11446	-0.311000	0.10039	-1.753000	0.00686	0.164000	0.23853	0.002000	0.18203	0.004000	0.06068	0.2166:0.6563:0.0:0.127	4.527	0.11393	911	0.21964	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	596.83	142	chr1	15518245	.	C	T	596.83	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-4.421e+00;DP=1813;ExcessHet=1.7912;FS=165.634;InbreedingCoeff=-0.1592;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.68;ReadPosRankSum=0.402;SOR=11.152	GT:AD:DP:GQ:PL	0/1:103,27:130:99:134,0,2588	15	0	6	0
chr1	15559540	15559540	G	C	exonic	DNAJC16	.	nonsynonymous SNV	DNAJC16:NM_001287811:exon7:c.G102C:p.K34N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.998	D	0.852	P	0.000	D	0.979	N	1.955	M	2.29	T	-1.078	T	0.076	T	0.404	2.415	14.03	4.1	0.866	2.104	9.034	0.109	0.0328347890655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0033	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	9.11e-05	2.242e-05	0.0002	0.0002	0.0002	0	0.0003	0.0002	6.995e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.40832	T	0.002	0.83351	D	0.998	0.73220	D	0.852	0.60758	P	0.000001	0.84330	D	0.092863	0.978976	0.25213	N	2.62	0.76659	M	2.29	0.17113	T	-1.14	0.29323	N	0.808	0.81658	-1.0776	0.07821	T	0.076	0.30492	T	10	0.615474	0.67681	D	0.032835	0.54554	D	0.109	0.30843	0.288	0.24761	0.361160317528	0.35726	0.7971393182230749	0.79666	0.675634459511	0.59719	0.593763709068	0.52025	T	0.024746	0.32281	T	-0.129001	0.31658	T	-0.423077	0.30724	T	0.763135969638824	0.44033	D	0.957038	0.84692	D	0.17311552	0.38042	0.10023495	0.23959	0.17311552	0.38041	0.10023495	0.23958	-3.109	0.43915	T	.	.	0.535	0.66159	A	.;.;.;.	.;.;.;.	4.221675	0.63864	24.6	0.99651966654979685	0.77380	0.89772	0.50455	D	AEFDGBCI	0.332943	0.43219	N	0.165367727067141	0.49541	3.153414	0.114872783977894	0.45307	2.796318	0.999975053923645	0.50053	0.722319	0.85440	0	0.653731	0.59785	0	0.698795	0.65105	0	0.674467	0.66132	0	.	.	5.95	4.1	0.47196	2.185000	0.42215	3.965000	0.40779	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.796000	0.37562	0.2241:0.0:0.7759:0.0	9.034	0.35440	906	0.23090	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1071	64.26	74	chr1	15559540	.	G	C	64.26	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-4.176e+00;DP=2293;ExcessHet=0.3300;FS=213.033;InbreedingCoeff=-0.1831;MLEAC=4;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=0.16;ReadPosRankSum=0.759;SOR=10.704	GT:AD:DP:GQ:PL	./.:103,0:103:0:0,0,2361	11	0	3	7
chr1	15660079	15660079	C	G	exonic	RSC1A1	.	nonsynonymous SNV	RSC1A1:NM_006511:exon1:c.C211G:p.H71D,	.	.	437	1074	11	0	0	11	0.00509495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.358	B	0.117	B	0.602	N	1.000	N	0.345	N	1.03	T	-1.071	T	0.064	T	0.266	-0.448	1.923	3.69	2.635	1.193	6.444	0.106	0.00492976546737	0.0005	0.000998403	0.0007	0.0007	0.0002	0.0001	0	7.497e-05	0.0011	0.0045	0.0006274	97	154602	rs145936844	0.0003	0.0003	0.0002	0.0005	0.0045	0.0003	0.0003	0.0041	0.0040	0.0008	0	0	0	0	0.0010	2.878e-05	0.0004	0.0045	0.0004	0.0004	0.0003	0.0004	0.0044	0.0003	0.0003	0.0029	0.0025	0.0007	0	0	0	0	0	0	8.819e-05	0.0005	0.0044	0.216	0.19225	T	0.367	0.16619	T	0.358	0.33818	B	0.117	0.32014	B	0.602102	0.05652	N	1.218430	0.999999	0.08975	N	1.32	0.33002	L	1.03	0.40469	T	-2.23	0.50012	N	0.353	0.39457	-1.0709	0.09216	T	0.064	0.26597	T	10	0.003985256	0.00077	T	0.00493	0.12411	T	0.106	0.30130	.	.	0.245660935333	0.24156	0.16654297982546204	0.16574	0.111376564188	0.12561	0.242129161954	0.02985	T	0.551669	0.84831	D	-0.49806	0.00586	T	-0.487664	0.23634	T	0.0170598240796603	0.00453	T	0.457454	0.13149	T	0.10066186	0.23771	0.11465152	0.27675	0.10066186	0.23771	0.11465152	0.27675	-2.701	0.07312	T	.	.	0.110	0.21049	B	.	.	1.505232	0.19345	14.22	0.85226072243723339	0.15762	0.18647	0.20346	N	AEFBI	0.057800	0.10795	N	-0.521443595254785	0.21388	1.134663	-0.486199730024938	0.22533	1.224349	0.0111370876284493	0.12136	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.58	3.69	0.41483	1.225000	0.32154	0.136000	0.15109	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.957000	0.51019	0.0:0.6412:0.2155:0.1433	6.444	0.21066	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1451.98	35	chr1	15660079	.	C	G	1451.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=860;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.00;ReadPosRankSum=0.794;SOR=0.707	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1162	20	0	1	0
chr1	15661280	15661280	G	A	exonic	RSC1A1	.	nonsynonymous SNV	RSC1A1:NM_006511:exon1:c.G1412A:p.R471H,	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.067	B	0.057	B	0.629	N	1.000	N	0.345	N	1.93	T	-0.999	T	0.034	T	0.156	-0.487	1.760	1.74	0.378	0.301	5.399	0.017	0.0102735315298	0.0002	.	4.95e-05	0	0	0	0	9.007e-05	0	0	5.17e-05	8	154602	rs138904592	9.577e-05	9.645e-05	9.801e-05	9.351e-05	0.0005	8.242e-05	7.783e-05	0.0001	8.352e-05	5.974e-05	0	0	0	1.873e-05	0.0005	0.0001	0.0001	9.275e-05	5.911e-05	5.906e-05	8.994e-05	2.687e-05	8.82e-05	3.076e-05	2.209e-05	3.762e-05	2.575e-05	4.814e-05	0	6.545e-05	0	0	0	0	8.82e-05	0	0	0.059	0.37536	T	0.135	0.34124	T	0.067	0.23653	B	0.057	0.26280	B	0.628785	0.10707	N	0.824108	1	0.08975	N	0.345	0.11182	N	1.93	0.22881	T	-0.39	0.13611	N	0.035	0.01004	-0.9993	0.30115	T	0.034	0.14639	T	10	0.034783274	0.01700	T	0.010274	0.26610	T	0.017	0.02790	.	.	0.0920862733494	0.08535	0.08614747406315171	0.08548	0.0492791922644	0.05390	0.216696709394	0.01128	T	0.107922	0.42054	T	-0.410735	0.01965	T	-0.602067	0.12638	T	0.0150796106931232	0.00326	T	0.425957	0.11436	T	0.018209375	0.00342	0.02416895	0.00433	0.018209375	0.00342	0.02416895	0.00433	-2.868	0.08828	T	.	.	0.066	0.02200	B	.	.	0.811211	0.11821	8.391	0.64995560161370236	0.07648	0.05717	0.11640	N	AEFGBI	0.060788	0.11577	N	-1.1643628775278	0.05547	0.2531838	-1.12903259934048	0.07150	0.3467139	0.00938025819647507	0.11843	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.82	1.74	0.23636	0.319000	0.19270	-0.691000	0.07840	-0.858000	0.02657	0.077000	0.22263	0.000000	0.08366	0.050000	0.15192	0.2555:0.3497:0.3948:0.0	5.399	0.15586	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1308.98	35	chr1	15661280	.	G	A	1308.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.400e-02;DP=823;ExcessHet=0.0000;FS=4.118;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.05;ReadPosRankSum=0.116;SOR=0.375	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1162	20	0	1	0
chr1	15725495	15725495	G	C	exonic	PLEKHM2	.	nonsynonymous SNV	PLEKHM2:NM_015164:exon8:c.G891C:p.E297D,	.	.	419	1090	12	1	0	14	0.00638104	.	.	447354	Dilated_Cardiomyopathy,_Recessive	MedGen:CN239222	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.31	T	0.001	B	0.003	B	0.298	N	1.000	N	0.695	N	0.81	T	-1.052	T	0.050	T	0.078	0.661	7.545	-0.213	-0.309	0.234	7.309	0.029	.	0.0042	0.00239617	0.0091	0.0008	0.0171	0	0.0183	0.0152	0	0.0013	0.0032212	498	154602	rs61738982	0.0043	0.0043	0.0043	0.0044	0.0047	0.0042	0.0042	0.0046	0.0046	0.0007	0.0038	0.0094	0	0.0034	0.0032	0.0047	0.0044	0.0016	0.0034	0.0034	0.0036	0.0032	0.0052	0.0032	0.0031	0.0048	0.0046	0.0008	0	0.0027	0.0089	0	0.0040	0.0102	0.0052	0.0047	0.0006	0.166	0.23183	T	0.365	0.16717	T	0.001	0.07471	B	0.003	0.08700	B	0.297958	0.14650	N	0.673698	0.999997	0.08975	N	1.78	0.46185	L	0.81	0.48769	T	-0.13	0.14193	N	0.098	0.09772	-1.0525	0.13709	T	0.050	0.21456	T	10	0.0027320385	0.00042	T	.	.	.	0.029	0.06676	0.092	0.01108	0.187945064343	0.18414	0.04548187094265733	0.04492	0.136916518323	0.15440	0.369736731052	0.20794	T	0.012511	0.10987	T	-0.601717	0.00142	T	-0.634351	0.10086	T	0.00112805250531267	0.00011	T	0.587941	0.21745	T	0.05514608	0.10677	0.050879143	0.08074	0.05514608	0.10676	0.050879143	0.08074	-4.44	0.30096	T	.	.	0.084	0.11172	B	.;.;.	.;.;.	0.488346	0.08577	5.343	0.98370892766588502	0.40750	0.12125	0.17075	N	AEFDBI	0.089372	0.18115	N	-1.16558310143289	0.05529	0.2522628	-1.16605404051323	0.06484	0.312281	0.933966873701734	0.27151	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	5.35	-0.213	0.12517	0.269000	0.18354	0.730000	0.21079	-0.118000	0.14412	0.008000	0.17931	0.113000	0.22817	0.300000	0.24500	0.2754:0.4223:0.3023:0.0	7.309	0.25639	756	0.51065	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1276.98	35	chr1	15725495	.	G	C	1276.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.609;DP=802;ExcessHet=0.0000;FS=0.720;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-6.210e-01;SOR=0.619	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	20	0	1	0
chr1	15929667	15929667	C	T	exonic	SPEN	.	nonsynonymous SNV	SPEN:NM_015001:exon11:c.C3427T:p.R1143C,	.	.	431	1083	8	0	0	8	0.00367985	.	.	3208072	SPEN-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.002	B	0.001	B	.	.	1.000	N	-1.1	N	3.09	T	-0.958	T	0.008	T	0.065	0.215	5.159	3.13	0.585	2.229	4.939	0.059	0.00323857580161	0.0004	0.000399361	0.0005	9.988e-05	0.0003	0	0	0.0007	0.0011	0.0008	0.0004722	73	154602	rs145802445	0.0003	0.0003	0.0002	0.0003	0.0024	0.0003	0.0003	0.0015	0.0012	5.976e-05	0.0002	0	0	0	0.0024	0.0003	0.0005	0.0010	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0001	0.0004	0.0003	4.815e-05	0	0	0	0	0	0	0.0004	0.0005	0.0010	0.132	0.26519	T	0.306	0.19972	T	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	0.999984	0.18198	N	0	0.06538	N	3.09	0.08371	T	-1.59	0.38345	N	0.08	0.05542	-0.9583	0.39497	T	0.008	0.02884	T	9	0.013141364	0.00280	T	0.003239	0.07147	T	0.059	0.16972	.	.	0.082315109003	0.07666	0.10271011754872392	0.10201	0.314982508774	0.33775	0.218506008387	0.01225	T	0.57242	0.85865	D	-0.626132	0.00101	T	-0.744977	0.03685	T	0.01737310426068	0.00475	T	0.80372	0.45098	T	0.06449365	0.13690	0.048732556	0.07301	0.06449365	0.13690	0.048732556	0.07300	-7.142	0.55064	T	.	.	0.075	0.05579	B	.	.	2.811054	0.37005	20.4	0.80941301008218236	0.13442	0.68108	0.33678	D	AEFBCIJ	0.067842	0.13355	N	-0.473013561037891	0.22967	1.230	-0.242927380161229	0.30014	1.686425	0.00591882869419845	0.11077	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.2	3.13	0.35090	2.856000	0.48040	2.831000	0.35021	0.599000	0.40250	0.998000	0.41325	0.698000	0.26216	0.988000	0.63387	0.0:0.6445:0.2198:0.1356	4.939	0.13305	419	0.81524	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	12453.11	293	chr1	15929667	.	C	T	12453.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=6.19;DP=5124;ExcessHet=0.1072;FS=3.263;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=0.050;SOR=0.938	GT:AD:DP:GQ:PL	0/0:298,0:298:99:0,120,1800	19	0	2	0
chr1	15937527	15937527	G	C	exonic	SPEN	.	nonsynonymous SNV	SPEN:NM_015001:exon12:c.G10391C:p.G3464A,	.	.	420	1101	1	0	0	1	0.000453926	.	.	2386090	Radio-Tartaglia_syndrome|SPEN-related_disorder|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0859143,MedGen:C5543339,OMIM:619312,Orphanet:662234|.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.87	T	0.005	B	0.005	B	.	.	0.532	D	1.78	L	3.03	T	-1.049	T	0.024	T	0.218	1.722	11.72	5.78	2.717	4.230	13.531	0.080	0.00254976266685	0.0019	0.000599042	0.0016	0.0004	0.0012	0	0.0003	0.0026	0.0033	6.056e-05	0.0017011	263	154602	rs41269153	0.0028	0.0028	0.0028	0.0027	0.0034	0.0027	0.0027	0.0033	0.0033	0.0003	0.0015	3.826e-05	0	0.0003	0.0014	0.0034	0.0028	0.0001	0.0019	0.0019	0.0022	0.0016	0.0030	0.0017	0.0016	0.0027	0.0025	0.0007	0	0.0029	0	0	0.0003	0.0034	0.0030	0.0038	0	0.073	0.34800	T	0.236	0.24694	T	0.005	0.12996	B	0.005	0.11217	B	.	.	.	.	0.532297	0.31985	D	2.125	0.59049	M	3.03	0.08898	T	-1.23	0.31170	N	0.12	0.11054	-1.0491	0.14649	T	0.024	0.10148	T	9	0.007499397	0.00170	T	0.00255	0.05121	T	0.080	0.23350	.	.	0.355511061997	0.35164	0.2302276244582716	0.22937	0.267589560466	0.29301	0.426672160625	0.28753	T	0.182082	0.53397	T	-0.531993	0.00374	T	-0.540626	0.18236	T	0.0186641632373435	0.00580	T	0.777822	0.41150	T	0.08614527	0.20012	0.10865732	0.26175	0.08614527	0.20012	0.10865732	0.26175	-2.614	0.06610	T	.	.	0.107	0.20235	B	.	.	3.117478	0.42078	21.5	0.9344105641399747	0.23218	0.97680	0.76366	D	AEFDGBCI	0.445044	0.50168	N	-0.0455597147757026	0.39801	2.353046	0.154110628451574	0.47362	2.967428	0.999999994199829	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.591603	0.36755	0	.	.	5.78	5.78	0.91418	2.588000	0.45802	7.621000	0.62310	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.8441:0.1559	13.531	0.61079	416	0.81733	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1668.98	80	chr1	15937527	.	G	C	1668.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.607e+00;DP=959;ExcessHet=0.0000;FS=2.267;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=0.985;SOR=0.923	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1436	20	0	1	0
chr1	16004335	16004335	G	C	exonic	SRARP	.	nonsynonymous SNV	SRARP:NM_178840:exon1:c.G32C:p.R11T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.077	B	0.025	B	0.154	N	1.000	N	0.895	L	0.82	T	-1.047	T	0.074	T	0.119	3.386	17.42	1.05	0.251	0.487	4.243	0.018	0.00692765441842	.	.	6.31e-05	0	0	0	0	4.456e-05	0	0.0003	4.53e-05	7	154602	rs773988482	3.295e-05	3.42e-05	1.775e-05	4.832e-05	0.0004	2.552e-05	2.256e-05	0.0003	0.0002	0	0	0	0	0	0	1.261e-05	3.323e-05	0.0004	1.97e-05	1.968e-05	1.285e-05	2.685e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	0	0	0.0006	0.053	0.38863	T	0.118	0.36233	T	0.077	0.24313	B	0.025	0.20508	B	0.153957	0.17876	N	0.478549	1	0.08975	N	.	.	.	0.82	0.48142	T	-2.3	0.51157	N	0.249	0.28146	-1.0467	0.15332	T	0.074	0.29739	T	10	0.04128614	0.02771	T	0.006928	0.18345	T	0.018	0.03083	0.288	0.24761	0.0482279557977	0.04254	0.06945768261637977	0.06883	0.0843777456082	0.09530	.	.	.	0.032171	0.22369	T	-0.484182	0.00700	T	-0.613261	0.11722	T	0.0403265331933463	0.03749	T	0.414759	0.10842	T	0.08904845	0.20793	0.07993501	0.18038	0.08904845	0.20793	0.07993501	0.18038	-3.472	0.16042	T	.	.	0.124	0.26138	B	.	.	1.830435	0.23256	15.95	0.96106354906241009	0.28730	0.04392	0.09974	N	AEFDBHCI	0.049043	0.08432	N	-0.862936213665181	0.11733	0.5678574	-0.896619148201067	0.12174	0.6246755	0.999939545491343	0.46732	0.487112	0.14033	0	0.547309	0.14657	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	4.0	1.05	0.19280	0.660000	0.24691	1.116000	0.24201	0.614000	0.49286	0.001000	0.13787	0.002000	0.18203	0.729000	0.35066	0.2126:0.1905:0.5969:0.0	4.243	0.10108	440	0.80101	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1172.98	35	chr1	16004335	.	G	C	1172.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=926;ExcessHet=0.0000;FS=0.793;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=0.271;SOR=0.823	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,110,1756	20	0	1	0
chr1	16015599	16015599	C	T	exonic	HSPB7	.	nonsynonymous SNV	HSPB7:NM_001349683:exon3:c.G506A:p.R169Q	.	.	.	.	.	.	.	.	.	.	.	3270482	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.997	D	0.000	D	1.000	D	2.14	M	-3.04	D	0.966	D	0.907	D	0.725	5.374	34	4.97	2.296	7.334	14.955	0.750	0.453018763849	.	.	1.667e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs752889799	2.668e-05	2.668e-05	2.995e-05	2.338e-05	0.0001	1.997e-05	1.754e-05	3.348e-05	1.981e-05	2.987e-05	0	0	0.0001	0	0	2.608e-05	6.624e-05	1.159e-05	2.629e-05	2.627e-05	2.569e-05	2.691e-05	4.411e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0.0005	0	0.017	0.57480	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.84330	D	0.000000	0.999982	0.54805	D	1.98	0.53716	M	-3.14	0.95387	D	-0.59	0.22508	N	0.528	0.67045	0.966	0.96640	D	0.907	0.96906	D	10	0.7292541	0.74184	D	0.453019	0.94377	D	0.750	0.91413	0.54	0.65161	0.992674725165	0.99259	0.4882626856772676	0.48746	1.23048034304	0.81318	0.698452353477	0.66920	T	0.194581	0.55040	T	0.103418	0.64659	D	0.202925	0.83287	D	0.859564185142517	0.51011	D	0.955704	0.85339	D	0.14851265	0.33901	0.14571196	0.34548	0.14851265	0.33901	0.14571196	0.34547	-4.148	0.25995	T	.	.	0.750	0.79168	P	.;.;.;.;.;.	.;.;.;.;.;.	5.473321	0.91297	32	0.9993086285304652	0.99334	0.98573	0.84247	D	AEFDBI	0.970024	0.99235	D	0.740565316414967	0.82290	7.726079	0.710193367354726	0.83152	7.947448	0.999999999999226	0.74766	0.608966	0.35542	0	0.547309	0.14657	0	0.769059	0.98459	0	0.562822	0.20929	0	.	.	4.97	4.97	0.65419	7.486000	0.80232	7.527000	0.59855	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:1.0:0.0:0.0	14.955	0.70754	440	0.80101	Alpha crystallin/Hsp20 domain;Alpha crystallin/Hsp20 domain;Alpha crystallin/Hsp20 domain;Alpha crystallin/Hsp20 domain;.;Alpha crystallin/Hsp20 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1423.98	35	chr1	16015599	.	C	T	1423.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.87;DP=837;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.71;ReadPosRankSum=-1.774e+00;SOR=0.660	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1248	20	0	1	0
chr1	16027354	16027354	C	T	exonic	CLCNKA	.	nonsynonymous SNV	CLCNKA:NM_001257139:exon7:c.C571T:p.R191W	Bartter syndrome, type 4b, digenic, Digenic recessive	.	.	.	.	.	.	.	.	.	.	2282218	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.31	T	0.0	B	0.001	B	0.000	N	0.916	N	0.845	L	-3.6	D	-0.344	T	0.610	D	0.231	1.490	10.93	3.02	0.367	1.071	5.101	0.298	0.0653688534512	0.0002	.	0.0001	0.0002	0	0.0001	0.0002	7.534e-05	0	0.0003	3.84e-05	1	26028	rs147305058	9.512e-05	0.0001	7.625e-05	0.0001	0.0003	8.204e-05	7.719e-05	0.0002	0.0002	5.977e-05	0	0	0.0001	1.873e-05	0	9.353e-05	4.971e-05	0.0003	8.535e-05	8.529e-05	0.0001	6.714e-05	0.0002	4.953e-05	3.96e-05	4.727e-05	3.045e-05	0.0001	0	0.0001	0	0	9.411e-05	0	4.41e-05	0.0005	0.0002	0.294	0.14793	T	0.224	0.25591	T	0.0	0.02946	B	0.0	0.01387	B	0.000349	0.45440	N	0.189554	0.915806	0.27406	N	0.845	0.21182	L	-3.6	0.95009	D	-3.37	0.66665	D	0.397	0.43899	-0.3437	0.73736	T	0.610	0.86191	D	10	0.18840632	0.34394	T	0.065369	0.69559	D	0.298	0.61843	.	.	0.71446170501	0.71196	0.48198151029303576	0.48118	0.360313599226	0.37710	0.774693012238	0.78128	T	0.735192	0.92620	D	-0.209351	0.19471	T	-0.233947	0.51387	T	0.0991556743188312	0.12264	T	0.628437	0.29175	T	0.17766196	0.38744	0.12798724	0.30799	0.17766196	0.38743	0.12798724	0.30798	-3.801	0.20820	T	0.308008793186472	0.40577	0.040	0.00505	B	.;.;.	.;.;.	3.325334	0.45750	22.2	0.9644573858084603	0.29844	0.34553	0.25095	N	AEFDBCI	0.482359	0.52326	N	-0.719776736882525	0.15467	0.779684	-0.586489944808277	0.19844	1.066571	0.986475006955165	0.31070	0.497415	0.19182	0	0.59043	0.45803	0	0.503968	0.08637	0	0.542086	0.14980	0	.	.	3.02	3.02	0.33970	1.113000	0.30798	1.717000	0.28234	-0.496000	0.05032	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.4019:0.0:0.5981	5.101	0.14093	438	0.80235	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2828.98	37	chr1	16027354	.	C	T	2828.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.12;DP=959;ExcessHet=0.0000;FS=1.586;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.90;MQRankSum=-8.041e+00;QD=11.94;ReadPosRankSum=0.103;SOR=0.826	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1429	20	0	1	0
chr1	16051481	16051481	T	C	exonic	CLCNKB	.	nonsynonymous SNV	CLCNKB:NM_001165945:exon6:c.T724C:p.W242R	Bartter syndrome, type 3, Autosomal recessive;Bartter syndrome, type 4b, digenic, Digenic recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	2.5	M	-3.37	D	0.946	D	0.879	D	0.813	3.822	19.41	4.38	1.609	5.646	12.431	0.849	0.421418707566	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000154	0.49130	D	0.191906	0.99998	0.54805	D	2.75	0.80375	M	-3.37	0.94114	D	-11.53	0.99715	D	0.83	0.83269	0.946	0.96333	D	0.879	0.95982	D	10	0.96046215	0.95450	D	0.421419	0.93801	D	0.849	0.95323	0.783	0.90693	0.99714447896	0.99711	0.8908076086507766	0.89050	0.808974901303	0.66653	.	.	.	0.757318	0.93397	D	0.335126	0.85508	D	0.243609	0.85318	D	0.999272882938385	0.96781	D	0.946905	0.79612	D	0.9271045	0.93947	0.91122776	0.95776	0.9271045	0.93948	0.91122776	0.95777	-12.565	0.87494	D	0.853548009734201	0.91904	0.978	0.90850	P	.;.;.	.;.;.	5.074315	0.84651	28.4	0.99572639772031479	0.72501	0.98729	0.86106	D	AEFGBI	0.834106	0.75221	D	0.639174735600776	0.75668	6.347211	0.5600810660501	0.72103	5.757169	0.999997290790384	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.562822	0.20929	0	.	.	4.38	4.38	0.52019	4.697000	0.61467	7.617000	0.62147	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.0:0.0:1.0	12.431	0.54907	519	0.74455	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2385.98	36	chr1	16051481	.	T	C	2385.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.441e+00;DP=1197;ExcessHet=0.0000;FS=0.471;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.93;MQRankSum=0.00;QD=9.98;ReadPosRankSum=0.462;SOR=0.651	GT:AD:DP:GQ:PL	0/1:130,109:239:99:2400,0,3301	20	0	1	0
chr1	16058642	16058642	G	A	exonic	FAM131C	.	nonsynonymous SNV	FAM131C:NM_182623:exon7:c.C638T:p.S213L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	1.0	D	0.992	D	0.032	N	0.877	N	1.78	L	2.49	T	-1.104	T	0.073	T	0.424	3.643	18.53	3.69	1.634	1.285	10.973	0.059	0.0208171850556	.	.	7.073e-05	0.0003	0	0.0004	0	0	0	9.349e-05	3.23e-05	5	154602	rs776725572	1.246e-05	1.779e-05	9.616e-06	1.535e-05	7.659e-05	7.79e-06	6.43e-06	3.105e-05	2.11e-05	5.993e-05	0	0	7.659e-05	0	0	4.522e-06	3.342e-05	7.264e-05	5.254e-05	5.253e-05	5.137e-05	5.378e-05	0.0001	2.556e-05	1.829e-05	6.28e-05	4.297e-05	0.0001	0	0.0001	0	0	0	0	0	0	0	0.016	0.51853	D	0.182	0.29249	T	1.0	0.90584	D	0.992	0.80445	D	0.032276	0.25053	N	0.391977	0.87719	0.28110	N	2.25	0.63811	M	2.49	0.14531	T	-2.0	0.46146	N	0.095	0.07535	-1.1042	0.03620	T	0.073	0.29419	T	10	0.15819076	0.29753	T	0.020817	0.43488	T	0.059	0.16972	0.189	0.09907	0.294206760003	0.29026	0.17514096650573194	0.17433	1.21038623633	0.80821	0.593596458435	0.52001	T	0.007062	0.06479	T	-0.333292	0.05866	T	-0.468218	0.25709	T	0.53089714050293	0.33767	D	0.705629	0.31596	T	0.0852735	0.19773	0.12802722	0.30808	0.0852735	0.19773	0.12802722	0.30807	-3.629	0.18277	T	.	.	0.076	0.06069	B	.	.	3.005236	0.40166	21.1	0.99894199010958784	0.96742	0.67826	0.33574	D	AEFGBI	0.196694	0.32365	N	0.222432241521795	0.52287	3.403859	0.129967482838719	0.46089	2.860695	0.269476239351767	0.18876	0.549168	0.22868	0	0.59043	0.45803	0	0.576033	0.28219	0	0.616125	0.45549	0	.	.	3.69	3.69	0.41483	1.840000	0.38871	5.123000	0.47601	-0.299000	0.06208	0.587000	0.27642	0.999000	0.35428	0.049000	0.15107	0.0:0.0:1.0:0.0	10.973	0.46662	561	0.71236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	415.98	27	chr1	16058642	.	G	A	415.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.256;DP=902;ExcessHet=0.0000;FS=2.699;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=48.64;MQRankSum=-1.898e+00;QD=10.40;ReadPosRankSum=0.421;SOR=1.179	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	20	0	1	0
chr1	16198636	16198636	T	C	exonic	ARHGEF19	.	nonsynonymous SNV	ARHGEF19:NM_153213:exon16:c.A2360G:p.N787S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	0.017	B	0.044	B	0.020	N	0.520	D	0.695	N	-0.02	T	-1.021	T	0.109	T	0.06	3.324	17.18	-0.436	0.027	2.222	2.659	0.052	0.0107387688242	0.0002	.	9.123e-05	0	8.639e-05	0	0	0.0001	0	0.0001	7.12e-05	11	154602	rs141643788	5.337e-05	5.336e-05	3.676e-05	7.015e-05	0.0009	4.345e-05	4.019e-05	0.0003	0.0002	0	0.0001	0	0	0	0.0009	4.408e-05	9.939e-05	0.0002	7.224e-05	7.218e-05	3.856e-05	0.0001	0.0004	3.969e-05	3.126e-05	0.0002	0.0001	2.407e-05	0	0.0004	0	0	0	0	2.941e-05	0.0009	0	0.649	0.04864	T	0.92	0.02873	T	0.017	0.17573	B	0.044	0.24394	B	0.019882	0.27158	N	0.273467	0.519544	0.31885	D	1.7	0.43825	L	-0.44	0.69777	T	-0.2	0.10136	N	0.064	0.03613	-1.0206	0.23519	T	0.109	0.39439	T	10	0.033177406	0.01487	T	0.010739	0.27620	T	0.052	0.14661	.	.	0.636509788131	0.63352	0.32606561022083974	0.32519	0.206839020483	0.23117	0.431340008974	0.29391	T	0.002273	0.01671	T	-0.363359	0.03944	T	-0.50467	0.21864	T	0.256904274225235	0.23179	T	0.442656	0.12286	T	0.031241262	0.02928	0.028200973	0.01035	0.031241262	0.02928	0.028200973	0.01035	-2.961	0.09767	T	.	.	0.128	0.27222	B	.	.	2.264470	0.28940	17.96	0.99783784926786034	0.87043	0.77505	0.38115	D	AEFDBI	0.126630	0.24365	N	-0.628875718346679	0.18080	0.9358388	-0.50384859724853	0.22047	1.195661	0.0734316478526835	0.15634	0.67177	0.52595	0	0.670034	0.63936	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	5.37	-0.436	0.11663	1.942000	0.39870	1.064000	0.23746	0.665000	0.62972	0.979000	0.35152	0.936000	0.28664	0.692000	0.33898	0.1166:0.161:0.1323:0.5901	2.659	0.04714	223	0.91367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1150.98	45	chr1	16198636	.	T	C	1150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.760e-01;DP=907;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=1.83;SOR=0.658	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1309	20	0	1	0
chr1	16202497	16202497	C	A	exonic	ARHGEF19	.	nonsynonymous SNV	ARHGEF19:NM_153213:exon13:c.G1985T:p.G662V,	.	.	391	1128	3	0	0	3	0.00132802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.992	D	0.000	D	1.000	D	1.82	L	-0.06	T	-0.306	T	0.372	T	0.45	4.400	23.3	4.81	2.217	6.498	13.367	0.359	0.132828007127	.	0.000399361	9.973e-05	0	8.675e-05	0	0	0.0001	0	0.0001	9.06e-05	14	154602	rs201415943	8.893e-05	8.893e-05	6.806e-05	0.0001	0.0019	7.622e-05	7.167e-05	0.0011	0.0008	0	6.709e-05	3.826e-05	0	0	0.0019	6.025e-05	0.0001	0.0005	7.876e-05	7.873e-05	7.706e-05	8.053e-05	0.0002	4.492e-05	3.509e-05	7.908e-05	5.994e-05	2.405e-05	0	0	0	0	0	0	0.0001	0	0.0002	0.014	0.53172	D	0.011	0.64786	D	1.0	0.90584	D	0.992	0.80445	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.34	0.67151	M	-0.06	0.63568	T	-8.06	0.96621	D	0.332	0.37301	-0.3064	0.74806	T	0.372	0.73076	T	10	0.19454846	0.35270	T	0.132828	0.81518	D	0.359	0.67962	.	.	0.765010141717	0.76287	0.6904994707378325	0.68989	1.03404003481	0.75517	0.696405172348	0.66625	T	0.028541	0.20653	T	-0.207163	0.19781	T	-0.224833	0.52270	T	0.894906461238861	0.54637	D	0.90041	0.65400	D	0.830834	0.85960	0.70763934	0.82761	0.830834	0.85962	0.70763934	0.82762	-13.923	0.92804	D	.	.	0.309	0.53709	B	.	.	5.001515	0.82994	27.9	0.99765432124054265	0.85417	0.96881	0.71447	D	AEFDBI	0.700755	0.65767	D	0.664400685243365	0.77304	6.649037	0.637125038177096	0.77655	6.721392	0.999999999630165	0.74766	0.631515	0.41029	0	0.659464	0.62310	0	0.697927	0.64325	0	0.683762	0.67416	0	.	.	4.81	4.81	0.61401	3.217000	0.50886	7.562000	0.60503	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	13.367	0.60130	212	0.91760	Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1543.98	34	chr1	16202497	.	C	A	1543.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.040e+00;DP=971;ExcessHet=0.0000;FS=0.686;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=1.54;SOR=0.605	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr1	16409979	16409979	G	A	exonic	SPATA21	.	nonsynonymous SNV	SPATA21:NM_001353349:exon4:c.C140T:p.A47V	.	.	.	.	.	.	.	.	.	.	.	3330161	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.86	T	0.0	B	0.0	B	0.000	N	1.000	N	-0.205	N	-0.0	T	-0.956	T	0.072	T	0.059	-1.551	0.015	-7.43	-3.384	-3.452	2.067	0.022	0.003995994295	7.7e-05	.	0.0002	0	0.0002	0	0	0.0002	0	0.0007	0.0001552	24	154602	rs141705517	0.0001	0.0001	0.0001	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	6.028e-05	0.0005	0.0010	0	0	0.0004	7.669e-05	0.0003	0.0006	0.0001	0.0001	0.0001	0.0001	0.0006	7.579e-05	6.284e-05	0.0003	0.0002	2.413e-05	0	0.0006	0.0009	0	0	0	7.351e-05	0	0	1.0	0.00964	T	0.569	0.08839	T	0.0	0.02946	B	0.0	0.01387	B	0.000069	0.00414	N	4.046660	1	0.08975	N	-0.205	0.04094	N	-0.0	0.62762	T	-0.04	0.07590	N	0.076	0.06322	-0.9561	0.39898	T	0.072	0.29323	T	10	0.010257363	0.00229	T	0.003996	0.09462	T	0.022	0.04323	.	.	0.0482279557977	0.04254	0.057401734098235346	0.05681	0.0886726636444	0.10026	0.276521265507	0.07013	T	8.53E-4	0.00427	T	-0.548978	0.00296	T	-0.692195	0.06262	T	0.0238037016242743	0.01120	T	0.428957	0.11607	T	0.028019823	0.02078	0.034233753	0.02454	0.028019823	0.02078	0.034233753	0.02453	-4.393	0.29719	T	.	.	0.070	0.06942	B	.;.	.;.	-1.431601	0.00338	0.006	0.64962399302535911	0.07639	0.00335	0.01744	N	AEFDBI	0.023649	0.01348	N	-2.09394707953353	0.00132	0.0056526	-2.17797668193097	0.00125	0.005512138	0.999999999256391	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.72	-7.43	0.01238	-4.137000	0.00326	-6.464000	0.01391	-0.301000	0.06190	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4649:0.0942:0.2673:0.1737	2.067	0.03387	784	0.47045	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1109.98	33	chr1	16409979	.	G	A	1109.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.059;DP=954;ExcessHet=0.0000;FS=1.622;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=0.039;SOR=0.886	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,120,1800	20	0	1	0
chr1	16410043	16410043	C	T	exonic	SPATA21	.	nonsynonymous SNV	SPATA21:NM_001353349:exon4:c.G76A:p.E26K	.	.	399	1109	14	0	0	14	0.0062724	0.0682	0.342	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.95	P	0.375	B	0.170	N	1.000	N	1.1	L	-0.79	T	-0.598	T	0.253	T	0.171	4.135	21.3	0.615	0.027	0.168	11.609	0.221	.	0.0004	0.000599042	0.0010	0.0002	0.0011	0	0	0.0014	0.0026	0.0008	0.0009702	150	154602	rs201182640	0.0008	0.0008	0.0008	0.0008	0.0106	0.0008	0.0008	0.0083	0.0076	0.0004	0.0010	0.0049	0	1.96e-05	0.0106	0.0007	0.0017	0.0007	0.0007	0.0007	0.0008	0.0007	0.0012	0.0006	0.0006	0.0008	0.0007	0.0002	0	0.0012	0.0043	0	0	0.0136	0.0009	0.0019	0.0002	0.009	0.91255	D	0.036	0.62352	D	0.793	0.44725	P	0.196	0.36635	B	0.170082	0.17400	N	0.481200	0.708219	0.30039	N	2.255	0.64187	M	-0.86	0.74477	T	-1.73	0.41046	N	0.309	0.34874	-0.5983	0.64887	T	0.253	0.62258	T	10	0.0063958764	0.00146	T	0.02057	0.43191	T	0.221	0.51721	.	.	0.409124616982	0.40530	0.2156261966168259	0.21478	0.207277676253	0.23183	0.401835441589	0.25325	T	0.004957	0.04384	T	-0.379487	0.03139	T	-0.363435	0.37655	T	0.029477732060472	0.01909	T	0.591441	0.21800	T	0.08622826	0.20034	0.113605924	0.27418	0.08622826	0.20033	0.113605924	0.27417	-3.981	0.29216	T	.	.	0.104	0.32922	B	.;.	.;.	3.894111	0.56683	23.8	0.99815731946285613	0.89885	0.17090	0.19685	N	AEFDBI	0.117871	0.23073	N	-0.364218364561367	0.26753	1.462499	-0.432620193178793	0.24046	1.31461	0.999546033684751	0.40300	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.94	0.615	0.16784	-0.163000	0.09986	0.415000	0.18155	0.534000	0.24903	0.079000	0.22314	0.986000	0.30841	0.499000	0.28994	0.0:0.3971:0.6029:0.0	11.609	0.50307	784	0.47045	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1173.98	63	chr1	16410043	.	C	T	1173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.68;DP=949;ExcessHet=0.0000;FS=2.198;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.63;ReadPosRankSum=0.206;SOR=1.046	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:58,0:58:99:.:.:0,120,1800	20	0	1	0
chr1	16449149	16449149	C	G	exonic	NECAP2	.	nonsynonymous SNV	NECAP2:NM_001145277:exon5:c.C437G:p.P146R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.995	D	0.000	D	1.000	D	2.925	M	0.65	T	-0.202	T	0.373	T	0.85	4.469	23.9	5.84	2.760	7.156	17.638	0.491	0.0337593511185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.001	0.92824	D	0.999	0.77913	D	0.991	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.47	0.92451	M	0.65	0.53302	T	-7.14	0.94484	D	0.849	0.85660	-0.2022	0.77614	T	0.373	0.73190	T	10	0.8648213	0.85721	D	0.033759	0.55206	D	0.491	0.77783	0.691	0.82843	0.82926204464	0.82764	0.596985567377499	0.59629	1.0836660373	0.77211	0.609843254089	0.54293	T	0.187147	0.76895	T	0.268824	0.80336	D	0.14837	0.80082	D	0.99414506040574	0.85270	D	0.965303	0.87188	D	0.89239174	0.90713	0.84244525	0.91001	0.89239174	0.90714	0.84244525	0.91001	-15.324	0.96566	D	.	.	0.661	0.71382	P	.;.;.;.	.;.;.;.	4.375220	0.67400	25.1	0.99791858747100703	0.87750	0.98977	0.89442	D	AEFBI	0.909675	0.86661	D	0.917314281379544	0.92581	11.50646	0.870461790279724	0.94153	12.54343	0.999999999998783	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	7.539000	0.80984	7.701000	0.66289	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.788000	0.37229	0.0:1.0:0.0:0.0	17.638	0.88031	730	0.54327	NECAP, PHear domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	800.98	38	chr1	16449149	.	C	G	800.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.390e-01;DP=818;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.21;ReadPosRankSum=-9.960e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1344	20	0	1	0
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4286	41030.51	718	chr1	16563946	.	C	T	41030.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=0.258;DP=13151;ExcessHet=30.0624;FS=0.000;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=59.21;MQRankSum=-8.750e+00;QD=3.71;ReadPosRankSum=0.088;SOR=0.664	GT:AD:DP:GQ:PL	0/1:444,165:609:99:3526,0,12917	3	0	18	0
chr1	16563989	16563989	G	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	391	314	816	1	0	818	0.565698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3891	0.2879	0.4120	0.2492	0.4146	0.4143	0.3885	0.3951	0.0044437	687	154602	rs12117084	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0.0016	0.0027	0.0029	0	0.0030	0	0	.	.	0	.	0	0	.	0	0	0.0030	0	0	.	.	.	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.39457	.	.	.	.	.	.	.	0.0024681687	0.00037	T	.	.	.	.	.	.	.	.	.	0.02352237282194909	0.02304	.	.	0.575379014015	0.49435	T	.	.	.	-0.455599	0.01046	T	-0.892213	0.00559	T	.	.	.	0.687031	0.29593	T	.	.	.	.	.	.	.	.	-3.451	0.15752	T	.	.	0.172	0.37820	B	.	.	0.069283	0.04780	1.396	0.1972110124842818	0.00678	0.00975	0.03723	N	AEFDBCIJ	0.029075	0.02679	N	.	.	.	.	.	.	7.36511087105358E-4	0.07723	0.383005	0.05895	0	0.332388	0.05802	1	0.457825	0.06646	0	0.467017	0.07116	0	.	.	0.566	0.566	0.16501	-0.694000	0.05217	-10.261000	0.00721	-1.511000	0.01016	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4286	47598.51	991	chr1	16563989	.	G	C	47598.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-8.780e-01;DP=17388;ExcessHet=30.0624;FS=0.000;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=59.70;MQRankSum=-4.782e+00;QD=3.12;ReadPosRankSum=0.231;SOR=0.674	GT:AD:DP:GQ:PL	0/1:648,232:880:99:4458,0,17662	3	0	18	0
chr1	16564107	16564107	T	G	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	383	318	815	6	0	827	0.565277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4042	0.4090	0.4331	0.2091	0.4092	0.4156	0.4105	0.4299	0.0114492	298	26028	rs2990551	0	0.0008	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0042	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.005626291	0.00125	T	.	.	.	.	.	.	.	.	.	0.015489301517433041	0.01504	.	.	0.533775627613	0.43567	T	.	.	.	-0.499041	0.00579	T	-0.954615	0.00248	T	.	.	.	0.465553	0.17787	T	.	.	.	.	.	.	.	.	-2.062	0.03424	T	.	.	0.177	0.38676	B	.;.	.;.	-0.174163	0.03224	0.539	0.25431419136250621	0.01172	0.01395	0.04735	N	AEFDBHCI	0.031569	0.03403	N	.	.	.	.	.	.	7.84172557205885E-4	0.07810	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	-0.849	0.10181	-0.576000	0.05947	-14.342000	0.00409	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4048	106526.9	1008	chr1	16564107	.	T	G	106526.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.422e+00;DP=17757;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=55.80;MQRankSum=6.43;QD=7.02;ReadPosRankSum=0.689;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:651,236:887:99:.:.:6327,0,21505	4	0	17	0
chr1	16564112	16564112	G	A	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	382	776	360	4	0	368	0.191667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0308	.	0.2106	0.0561	0.2861	0.0502	0.2065	0.2398	0.2097	0.2357	0.0002305	6	26028	rs200783506	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0008	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.031	0.54934	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.28264	.	.	.	.	.	.	.	0.0030666888	0.00051	T	.	.	.	.	.	.	.	.	.	0.05765086588271105	0.05706	.	.	0.524779081345	0.42300	T	.	.	.	-0.62494	0.00103	T	-0.595706	0.13176	T	.	.	.	0.79772	0.47570	T	.	.	.	.	.	.	.	.	-5.516	0.42017	T	.	.	0.264	0.49845	B	.;.	.;.	0.535560	0.09040	5.825	0.31427375372166372	0.01770	0.01195	0.04267	N	AEFDBHCI	0.026313	0.01952	N	.	.	.	.	.	.	5.56753264327555E-4	0.07304	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	0.566	0.16501	-1.612000	0.02163	-12.383000	0.00529	-0.617000	0.04568	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	19191.79	994	chr1	16564112	.	G	A	19191.79	.	AC=13;AF=0.325;AN=40;BaseQRankSum=1.44;DP=16699;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.325;MQ=55.13;MQRankSum=4.65;QD=1.72;ReadPosRankSum=0.230;SOR=0.710	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:763,115:878:99:.:.:1099,0,29674	7	0	13	1
chr1	16564144	16564144	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	396	90	1031	5	0	1041	0.85258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	0.3425	0.4588	0.4722	0.4820	0.4666	0.4640	0.4780	0.0474489	1235	26028	rs1043750	0.0010	0.0018	0.0014	0.0006	0.0011	0.0005	0.0004	0.0006	0.0004	0	0	0	.	0.0027	0	0.0011	0.0016	0	0	0.0038	0	0	.	0	0	.	.	.	.	0	.	.	0	.	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4762	99791.4	773	chr1	16564144	.	C	T	99791.4	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.121e+00;DP=14037;ExcessHet=43.6797;FS=0.578;InbreedingCoeff=-0.9210;MLEAC=20;MLEAF=0.476;MQ=53.77;MQRankSum=-1.899e+01;QD=7.70;ReadPosRankSum=0.116;SOR=0.802	GT:AD:DP:GQ:PL	0/1:439,207:646:99:4646,0,16238	1	0	20	0
chr1	16564149	16564149	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	397	86	1030	9	0	1048	0.859016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	0.4863	0.4979	0.4883	0.4979	0.4937	0.49	0.4947	0.0530967	1382	26028	rs2992339	0.0004	0.0011	0.0002	0.0006	0.0006	0.0001	8.492e-05	0.0002	0.0001	0	0	0	.	0	0	0.0006	0	0	0	0.0048	0	0	.	0	0	.	.	.	.	0	.	.	.	.	0	.	0	.	.	.	0.027	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0017973781	0.00024	T	.	.	.	.	.	.	.	.	.	0.0179163774864188	0.01745	.	.	0.506860494614	0.39783	T	.	.	.	-0.443409	0.01235	T	-0.874703	0.00699	T	.	.	.	0.69743	0.33655	T	.	.	.	.	.	.	.	.	-6.206	0.47972	T	.	.	0.161	0.35519	B	.;.	.;.	1.213019	0.16064	12.29	0.62062331923232983	0.06867	0.00721	0.03037	N	AEFBCI	0.018716	0.00589	N	.	.	.	.	.	.	7.30078675238498E-5	0.04552	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-0.824	0.10266	0.108000	0.15232	-3.220000	0.02960	0.312000	0.19173	0.030000	0.20431	0.000000	0.08366	0.016000	0.10718	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	110456.43	755	chr1	16564149	.	C	T	110456.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-9.900e-01;DP=13366;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=53.66;MQRankSum=7.55;QD=8.81;ReadPosRankSum=-3.670e-01;SOR=0.678	GT:AD:DP:GQ:PL	0/1:301,316:617:99:8189,0,10231	1	0	20	0
chr1	16564186	16564186	C	G	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	373	1100	49	0	0	49	0.0217875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0087	0.0025	0.0043	0	0.0106	0.0127	0.01	0.0034	0.0072444	1120	154602	rs200760413	0	2.379e-05	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.69154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.37509	.	.	.	.	.	.	.	0.007929355	0.00180	T	.	.	.	.	.	.	.	0.0884992946249	0.08302	0.07312084663879208	0.07249	.	.	0.449560642242	0.31884	T	.	.	.	-0.456395	0.01035	T	-0.535872	0.18705	T	.	.	.	0.973753	0.92190	D	.	.	.	.	.	.	.	.	-6.486	0.50178	T	.	.	0.619	0.69641	P	.;.	.;.	1.785020	0.22693	15.72	0.44714069370902609	0.03458	0.00541	0.02492	N	AEFBCI	0.039570	0.05765	N	.	.	.	.	.	.	2.85478778828593E-4	0.06355	0.071217	0.01513	1	0.046471	0.00084	3	0.066767	0.01867	0	0.123	0.03924	1	.	.	0.566	-1.13	0.09274	-0.422000	0.07110	-7.525000	0.01138	0.312000	0.19173	0.005000	0.17040	0.000000	0.08366	0.015000	0.10482	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	127.98	270	chr1	16564186	.	C	G	127.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.15;DP=5423;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.85;MQRankSum=2.30;QD=0.28;ReadPosRankSum=-2.610e-01;SOR=0.835	GT:AD:DP:GQ:PL	0/0:266,0:266:99:0,120,1800	20	0	1	0
chr1	16567226	16567226	A	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	324	803	395	0	0	395	0.197401	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0195	.	0.1438	0.0722	0.1053	0.1226	0.1691	0.1504	0.1502	0.1896	0.10516	16258	154602	rs201533998	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.594e-05	0.0001	8.876e-05	0	5.065e-05	0.0007	0.0001	0	0	0.0001	0.0001	0.0001	3.682e-05	0.0001	7.054e-05	0	0.0002	1.377e-05	8.82e-06	1.31e-05	6.63e-06	0	0	0	0.0003	0.0002	0	0	4.936e-05	0	0	.	.	.	0.023	0.61642	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	0.37093	.	.	.	.	.	.	.	0.0041511655	0.00082	T	.	.	.	.	.	.	.	.	.	0.023240658769933194	0.02276	.	.	0.600396811962	0.52961	T	.	.	.	-0.583903	0.00182	T	-0.597232	0.13045	T	.	.	.	0.937806	0.76632	D	.	.	.	.	.	.	.	.	-6.372	0.49291	T	.	.	0.237	0.50016	B	.;.	.;.	1.595410	0.20400	14.73	0.33525994525903774	0.02002	0.02869	0.07640	N	AEFDBHCIJ	0.038534	0.05466	N	.	.	.	.	.	.	0.473035393726149	0.20723	0.383005	0.05895	0	0.152768	0.03566	2	0.457825	0.06646	0	0.393	0.06807	0	.	.	0.39	0.39	0.15500	-0.142000	0.10293	-1.937000	0.04467	0.256000	0.18359	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	491	0.76657	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.1429	7171.99	1271	chr1	16567226	.	A	C	7171.99	.	AC=6;AF=0.143;AN=42;BaseQRankSum=0.095;DP=12314;ExcessHet=1.7912;FS=0.000;InbreedingCoeff=-0.1651;MLEAC=6;MLEAF=0.143;MQ=57.63;MQRankSum=-1.564e+00;QD=0.89;ReadPosRankSum=0.304;SOR=0.650	GT:AD:DP:GQ:PL	0/0:126,0:126:99:0,120,1800	15	0	6	0
chr1	16569091	16569091	T	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	375	889	257	1	0	259	0.127148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0326	.	0.0814	0.0173	0.0368	0.1017	0.0981	0.0848	0.0959	0.1219	0.0584727	9040	154602	rs78194517	0.0008	0.0021	0.0007	0.0008	0.0027	0.0007	0.0007	0.0022	0.0020	0.0002	0.0004	0.0007	0.0027	0.0010	0.0006	0.0007	0.0008	0.0018	0.0002	0.0012	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	8.673e-05	0.0001	0.0016	0	0	0.0006	0.0003	0	0.0002	0.0008	0.0004	.	.	.	0.292	0.31225	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	0.0032458305	0.00055	T	.	.	.	.	.	.	.	.	.	0.019830771613370057	0.01936	.	.	0.407212525606	0.26071	T	.	.	.	-0.874566	0.00001	T	-1.00257	0.00134	T	.	.	.	0.680232	0.28883	T	.	.	.	.	.	.	.	.	-1.717	0.02274	T	.	.	0.125	0.26263	B	.;.	.;.	-0.319513	0.02533	0.303	0.58567040118532776	0.06022	0.00752	0.03125	N	AEFBCI	0.024799	0.01593	N	.	.	.	.	.	.	6.95502039275146E-5	0.04366	0.256867	0.04430	0	0.067947	0.01809	2	0.155693	0.03940	1	0.375513	0.06772	0	.	.	0.575	0.575	0.16558	-0.193000	0.09572	-0.014000	0.13018	-0.478000	0.05075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	467	0.78285	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.1	1480.07	652	chr1	16569091	.	T	C	1480.07	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-1.204e+00;DP=5353;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1301;MLEAC=4;MLEAF=0.100;MQ=43.09;MQRankSum=-2.580e+00;QD=0.65;ReadPosRankSum=-4.830e-01;SOR=0.685	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	16	0	4	1
chr1	16569128	16569128	G	A	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	388	1111	23	0	0	23	0.010245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	.	0.0074	0.0196	0.0046	0.0329	0	0.0016	0.0066	0.0151	0.0059702	923	154602	rs373437793	0.0003	0.0004	0.0002	0.0003	0.0014	0.0002	0.0002	0.0011	0.0010	0.0004	0.0014	0	0.0007	0	0.0006	0.0001	0.0002	0.0012	0.0001	0.0002	7.938e-05	0.0002	0.0002	7.076e-05	5.588e-05	6.669e-05	4.616e-05	0.0002	0	0.0001	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	95.98	609	chr1	16569128	.	G	A	95.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.800e-02;DP=4954;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=38.33;MQRankSum=0.513;QD=0.18;ReadPosRankSum=1.13;SOR=0.661	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	20	0	1	0
chr1	16569153	16569153	A	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00297872246145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.10572	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.33250	.	.	.	.	.	.	.	0.06037292	0.07406	T	0.002979	0.06369	T	.	.	.	.	0.0401082797425	0.02173	0.04029820569204778	0.03975	.	.	0.491197794676	0.37605	T	.	.	.	-0.518124	0.00451	T	-0.982026	0.00177	T	.	.	.	0.476352	0.14285	T	.	.	.	.	.	.	.	.	-2.859	0.08739	T	.	.	0.161	0.35581	B	.;.	.;.	-0.666899	0.01399	0.081	0.29475334859789659	0.01565	0.00394	0.01977	N	AEFBCI	0.027147	0.02165	N	.	.	.	.	.	.	8.2566396300814E-5	0.04703	0.228283	0.04149	0	0.429362	0.06391	1	0.155693	0.03940	1	0.221052	0.04502	0	.	.	0.575	-1.15	0.09211	-2.008000	0.01545	-20.000000	0.00162	-0.514000	0.04992	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	464	0.78488	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	953.98	41	chr1	16569153	.	A	T	953.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=2769;ExcessHet=0.0000;FS=0.732;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.81;MQRankSum=-6.255e+00;QD=1.70;ReadPosRankSum=0.403;SOR=0.647	GT:AD:DP:GQ:PL	0/0:137,0:137:99:0,120,1800	20	0	1	0
chr1	16575205	16575205	T	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0.0296	0.0017	0	0	0.0012	0.0022	6.067e-05	0.0002305	6	26028	rs758214101	0.0009	0.0013	0.0010	0.0008	0.0215	0.0009	0.0009	0.0201	0.0196	0.0215	0.0013	0.0112	0	5.674e-05	0.0029	9.052e-05	0.0025	6.974e-05	0.0063	0.0085	0.0064	0.0061	0.0210	0.0059	0.0058	0.0198	0.0194	0.0210	0	0.0022	0.0120	0	0	0	0.0001	0.0043	0.0002	.	.	.	0.057	0.47336	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	0.32481	.	.	.	.	.	.	.	0.0054886937	0.00121	T	.	.	.	.	.	.	.	0.44711355012	0.44333	0.015085218053176188	0.01464	.	.	0.531084060669	0.43187	T	.	.	.	-0.265959	0.12211	T	-0.619808	0.11201	T	.	.	.	0.686231	0.29475	T	.	.	.	.	.	.	.	.	-7.082	0.54631	T	.	.	0.197	0.41888	B	.;.	.;.	1.492896	0.19202	14.14	0.59169951056600512	0.06161	0.00464	0.02234	N	AEFBI	0.029756	0.02867	N	.	.	.	.	.	.	7.92328319456398E-5	0.04552	0.295142	0.05270	0	0.264834	0.04865	2	0.121787	0.03316	0	0.322829	0.05601	0	.	.	0.547	0.547	0.16392	0.730000	0.25711	-1.798000	0.04706	0.292000	0.18798	0.027000	0.20232	0.000000	0.08366	0.005000	0.06747	.	.	.	442	0.79946	.;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1861.02	526	chr1	16575205	.	T	C	1861.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.131e+00;DP=11145;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.024;MQ=46.27;MQRankSum=4.86;QD=2.40;ReadPosRankSum=1.48;SOR=0.620	GT:AD:DP:GQ:PL	0/0:392,0:392:99:0,120,1800	20	0	1	0
chr1	16575230	16575230	C	T	splicing	NBPF1	NM_017940:exon20:c.2120-1G>A	.	.	.	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0002	0.0006	0	0.0026	0.0010	0.0045	0.0006	3.84e-05	1	26028	rs746726956	0.0006	0.0008	0.0006	0.0006	0.0050	0.0006	0.0005	0.0034	0.0028	0.0002	0.0005	0.0002	0	0.0015	0.0050	0.0006	0.0006	0.0008	0.0005	0.0007	0.0004	0.0006	0.0008	0.0004	0.0004	0.0004	0.0003	0.0001	0	0.0005	0.0003	0	0.0019	0	0.0005	0.0009	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.496789	0.00596	T	-0.95138	0.00258	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	2.436914	0.31360	18.72	0.59989536055262616	0.06355	0.03075	0.07989	N	AEFBI	.	.	.	.	.	.	.	.	.	6.26388582997185E-5	0.04366	0.235384	0.04156	2	0.264834	0.04865	2	0.068591	0.01938	0	0.117559	0.03655	0	0.0937527	0.21119	0.744	-0.366	0.11921	1.088000	0.30489	0.221000	0.16075	0.266000	0.18458	0.722000	0.28841	0.002000	0.18203	0.019000	0.11356	0.0:0.6756:0.0:0.3244	3.211	0.06285	442	0.79946	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1689.15	236	chr1	16575230	.	C	T	1689.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.209;DP=5403;ExcessHet=0.0000;FS=2.812;InbreedingCoeff=-0.0325;MLEAC=1;MLEAF=0.024;MQ=44.80;MQRankSum=2.71;QD=4.39;ReadPosRankSum=1.27;SOR=0.865	GT:AD:DP:GQ:PL	0/0:182,0:182:99:0,120,1800	20	0	1	0
chr1	16576398	16576398	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	374	1144	4	0	0	4	0.0017452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00460146896353	.	.	0.0001	0.0001	0	0	0	0.0002	0	0	0.0001294	20	154602	rs754233306	0.0006	0.0029	0.0007	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0003	0	3.853e-05	0	3.758e-05	0.0002	0.0008	0.0004	0.0002	0.0003	0.0031	0.0003	0.0003	0.0005	0.0002	0.0002	0.0004	0.0004	0.0001	0	0.0002	0	0	0	0	0.0005	0	0.0004	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.07811	.	.	.	.	.	.	.	0.042095393	0.02926	T	0.004601	0.11377	T	.	.	.	.	0.0401082797425	0.02173	0.013162272113823219	0.01274	.	.	0.603292107582	0.53368	T	.	.	.	-0.591865	0.00163	T	-1.08795	0.00035	T	.	.	.	0.518348	0.16810	T	.	.	.	.	.	.	.	.	-6.813	0.52656	T	.	.	0.096	0.15430	B	.;.	.;.	-0.671314	0.01388	0.080	0.6718075843736302	0.08278	0.00051	0.00397	N	AEFDBI	0.014487	0.00233	N	.	.	.	.	.	.	2.1729480399847E-4	0.05997	0.257697	0.04554	1	0.067947	0.01809	2	0.344576	0.05992	1	0.195515	0.04268	0	.	.	0.939	-1.88	0.07294	-0.792000	0.04700	-20.000000	0.00162	0.156000	0.17708	0.000000	0.06391	0.000000	0.08366	0.040000	0.14268	0.343:0.4024:0.0:0.2546	2.040	0.03332	443	0.79878	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	43.1	477	chr1	16576398	.	C	T	43.1	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.88;DP=7780;ExcessHet=0.1072;FS=2.016;InbreedingCoeff=-0.0499;MLEAC=2;MLEAF=0.048;MQ=35.42;MQRankSum=-4.070e-01;QD=0.06;ReadPosRankSum=1.47;SOR=1.053	GT:AD:DP:GQ:PL	0/0:474,0:474:99:0,120,1800	19	0	2	0
chr1	16576447	16576447	C	G	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00503644279345	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1227134168	1.371e-06	2.463e-05	1.364e-06	1.377e-06	1.161e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.661e-05	1.161e-05	6.561e-06	1.968e-05	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292	0.33030	.	.	.	.	.	.	.	0.17387503	0.32236	T	0.005036	0.12722	T	.	.	.	.	0.541783519154	0.53830	0.0505537980196316	0.04998	.	.	0.610076189041	0.54326	T	.	.	.	-0.224225	0.17419	T	-0.55986	0.16390	T	.	.	.	0.89751	0.64163	D	.	.	.	.	.	.	.	.	-9.95	0.73612	D	.	.	0.332	0.55334	B	.;.	.;.	0.550034	0.09184	5.969	0.55601169742820644	0.05376	0.00182	0.01064	N	AEFBI	0.025190	0.01684	N	.	.	.	.	.	.	6.18938188310139E-5	0.04366	0.228283	0.04149	0	0.429362	0.06391	1	0.076283	0.02329	2	0.195515	0.04268	0	.	.	1.14	0.091	0.13776	-0.428000	0.07059	-0.736000	0.07640	0.156000	0.17708	0.204000	0.24355	0.000000	0.08366	0.041000	0.14368	0.0:0.7406:0.0:0.2594	3.849	0.08457	443	0.79878	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	217.98	456	chr1	16576447	.	C	G	217.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.355;DP=7742;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.64;MQRankSum=-4.150e+00;QD=0.86;ReadPosRankSum=-1.789e+00;SOR=0.667	GT:AD:DP:GQ:PL	0/0:477,0:477:99:0,120,1800	20	0	1	0
chr1	16577387	16577387	T	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	356	799	367	0	0	367	0.186768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0434	.	0.2397	0.1662	0.2034	0.4259	0.2658	0.2330	0.2715	0.2199	0.0002523	39	154602	rs672812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.20811	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.36779	.	.	.	.	.	.	.	0.0049095154	0.00105	T	.	.	.	.	.	.	.	.	.	0.02503941752049605	0.02454	.	.	0.530892848969	0.43161	T	.	.	.	-0.607731	0.00131	T	-1.11074	0.00022	T	.	.	.	0.820118	0.47860	T	.	.	.	.	.	.	.	.	-10.2	0.75100	D	.	.	0.175	0.38263	B	.;.	.;.	-0.632514	0.01485	0.092	0.32524367853212488	0.01889	0.00033	0.00296	N	AEFI	0.015988	0.00334	N	.	.	.	.	.	.	7.48439775225963E-5	0.04552	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.192000	0.09585	-8.658000	0.00933	-0.551000	0.04898	0.005000	0.17040	0.000000	0.08366	0.005000	0.06747	.	.	.	444	0.79803	.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.2381	6221.79	448	chr1	16577387	.	T	C	6221.79	.	AC=10;AF=0.238;AN=42;BaseQRankSum=1.96;DP=6360;ExcessHet=6.1002;FS=0.799;InbreedingCoeff=-0.3043;MLEAC=10;MLEAF=0.238;MQ=42.88;MQRankSum=-3.300e+00;QD=1.94;ReadPosRankSum=-6.470e-01;SOR=0.871	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:430,46:476:6:.:.:6,0,11759	11	0	10	0
chr1	16579293	16579293	A	G	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	529	584	394	15	0	424	0.266332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4770	0.4924	0.4777	0.4566	0.4691	0.4789	0.4718	0.4739	0.0008837	23	26028	rs4127114	2.64e-05	4.277e-05	2.622e-05	2.658e-05	0.0002	1.812e-05	1.531e-05	0.0001	7.808e-05	0.0002	0	4.461e-05	0.0002	0	0	1.524e-05	2.313e-05	0	0.0002	0.0007	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0003	0	7.295e-05	0	0.0002	0	0	0.0001	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6554.32	70	chr1	16579293	.	A	G	6554.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=1.87;DP=1441;ExcessHet=36.0830;FS=139.268;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=35.97;MQRankSum=0.877;QD=5.04;ReadPosRankSum=-7.480e-01;SOR=8.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,12:54:99:0|1:16579293_A_G:351,0,1727:16579293	0	0	19	2
chr1	16579294	16579294	T	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	528	581	397	16	0	429	0.269642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4727	0.4891	0.4739	0.4729	0.4642	0.4729	0.4624	0.4674	0.0008837	23	26028	rs4127115	2.497e-05	6.823e-05	2.58e-05	2.42e-05	0.0003	1.689e-05	1.419e-05	0.0001	0.0001	0.0002	0	8.871e-05	0.0003	0	0	8.967e-06	2.286e-05	0	0.0002	0.0010	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0003	0	0.0001	0	0.0004	0.0002	0	0.0001	0	0.0002	.	.	.	0.626	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00407	.	.	.	.	.	.	.	0.0016256273	0.00019	T	.	.	.	.	.	.	.	.	.	0.015250635719149447	0.01481	.	.	0.530770659447	0.43143	T	.	.	.	-0.622413	0.00106	T	-1.13183	0.00013	T	.	.	.	0.49745	0.15470	T	.	.	.	.	.	.	.	.	-6.053	0.46720	T	.	.	0.064	0.01738	B	.;.	.;.	-0.476506	0.01943	0.166	0.24072861881687246	0.01047	0.00011	0.00159	N	AEFI	0.015935	0.00328	N	.	.	.	.	.	.	6.49849957978273E-4	0.07527	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.898000	0.04213	-20.000000	0.00162	-1.466000	0.01076	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	445	0.79730	.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	6554.32	70	chr1	16579294	.	T	C	6554.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=-5.460e+00;DP=1432;ExcessHet=36.0830;FS=139.268;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=35.97;MQRankSum=0.877;QD=5.04;ReadPosRankSum=-9.680e-01;SOR=8.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,12:54:99:0|1:16579293_A_G:351,0,1727:16579293	0	0	19	2
chr1	16579305	16579305	G	A	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	547	597	363	15	0	393	0.247637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4396	0.4635	0.4334	0.4429	0.4244	0.4403	0.4359	0.4340	0.0011142	29	26028	rs10907245	0.0016	0.0023	0.0015	0.0017	0.0061	0.0015	0.0015	0.0053	0.0050	0.0061	0.0009	0.0028	0.0005	0.0002	0.0027	0.0016	0.0013	0.0019	0.0040	0.0094	0.0041	0.0039	0.0113	0.0037	0.0036	0.0105	0.0101	0.0113	0	0.0013	0.0026	0.0004	9.697e-05	0	0.0016	0.0049	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4286	3659.58	71	chr1	16579305	.	G	A	3659.58	.	AC=18;AF=0.429;AN=42;BaseQRankSum=3.29;DP=1401;ExcessHet=30.0624;FS=127.752;InbreedingCoeff=-0.7505;MLEAC=18;MLEAF=0.429;MQ=35.79;MQRankSum=0.355;QD=3.02;ReadPosRankSum=-7.570e-01;SOR=8.098	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,5:50:69:0|1:16579305_G_A:69,0,1860:16579305	3	0	18	0
chr1	16579308	16579308	G	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	536	678	298	10	0	318	0.189964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4169	0.4635	0.4098	0.4442	0.3977	0.4141	0.4226	0.4033	0.0009605	25	26028	rs10796417	2.988e-06	0.0001	2.05e-06	3.875e-06	1.313e-05	8e-07	2.2e-07	.	.	0	0	4.366e-05	0	0	0	1.416e-06	0	1.313e-05	4.685e-05	0.0005	7.844e-05	1.371e-05	7.453e-05	2.144e-05	1.549e-05	2.876e-05	1.88e-05	0	0	6.652e-05	0.0003	0	0	0	7.453e-05	0	0	.	.	.	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.0018868446	0.00026	T	.	.	.	.	.	.	.	.	.	0.03536828552245914	0.03483	.	.	0.579951882362	0.50079	T	.	.	.	-0.382433	0.03007	T	-0.787115	0.02245	T	.	.	.	0.920308	0.71149	D	.	.	.	.	.	.	.	.	-9.586	0.71394	D	.	.	0.175	0.38372	B	.;.	.;.	1.521589	0.19533	14.31	0.3543343570932736	0.02223	0.00520	0.02423	N	AEFI	0.030698	0.03141	N	.	.	.	.	.	.	6.38433801032419E-4	0.07505	0.183328	0.03972	0	0.096583	0.02683	0	0.083675	0.02720	0	0.185264	0.04187	1	.	.	.	.	.	0.649000	0.24529	-0.171000	0.11226	0.423000	0.20817	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	445	0.79730	.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.3095	1830.34	67	chr1	16579308	.	G	C	1830.34	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.233;DP=1379;ExcessHet=11.8493;FS=101.562;InbreedingCoeff=-0.4491;MLEAC=13;MLEAF=0.310;MQ=35.77;MQRankSum=0.401;QD=2.26;ReadPosRankSum=-6.640e-01;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,5:50:69:0|1:16579305_G_A:69,0,1865:16579305	8	0	13	0
chr1	16582638	16582638	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	449	968	105	0	0	105	0.0514454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1219	0.000599042	0.2131	0.3572	0.1575	0.3394	0.1525	0.2000	0.2186	0.1841	0.0010373	27	26028	rs375545829	1.578e-05	0.0001	2.132e-05	1.038e-05	0.0003	9.86e-06	8.14e-06	0.0002	0.0001	0.0003	0.0001	0	0	0	0	4.831e-06	2.006e-05	0	0.0002	0.0011	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0	0.0003	0	0	0	0	1.475e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.07143	235.74	47	chr1	16582638	.	C	T	235.74	.	AC=3;AF=0.071;AN=42;BaseQRankSum=3.07;DP=948;ExcessHet=0.3300;FS=14.773;InbreedingCoeff=-0.0783;MLEAC=3;MLEAF=0.071;MQ=36.82;MQRankSum=1.10;QD=1.66;ReadPosRankSum=0.00;SOR=3.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:49,0:49:99:.:.:0,120,1800	18	0	3	0
chr1	16582698	16582698	T	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.005e-05	0	0	0	0	0	0	0.0003	3.84e-05	1	26028	rs775391120	0	1.757e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	80.98	41	chr1	16582698	.	T	C	80.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=841;ExcessHet=0.0000;FS=7.898;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=34.38;MQRankSum=0.021;QD=2.02;ReadPosRankSum=-9.480e-01;SOR=2.584	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr1	16585589	16585589	A	G	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	444	979	99	0	0	99	0.0481283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0239617	0.2537	0.3542	0.2037	0.3206	0.2384	0.2507	0.2699	0.2182	0.0049562	129	26028	rs545990928	0.0003	0.0030	0.0004	0.0003	0.0006	0.0003	0.0003	0.0004	0.0004	0.0006	0	0.0002	0.0001	0	0.0003	0.0004	0.0003	3.641e-05	1.99e-05	0.0006	1.297e-05	2.716e-05	0.0002	5.29e-06	2.47e-06	8.1e-06	3.03e-06	4.886e-05	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	363.95	124	chr1	16585589	.	A	G	363.95	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.337e+00;DP=2025;ExcessHet=0.3300;FS=5.004;InbreedingCoeff=-0.0825;MLEAC=3;MLEAF=0.071;MQ=35.20;MQRankSum=-1.963e+00;QD=1.14;ReadPosRankSum=1.04;SOR=1.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:89,0:89:99:.:.:0,120,1800	18	0	3	0
chr1	16585590	16585590	T	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	442	981	99	0	0	99	0.0480349	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0239617	0.2530	0.3520	0.2026	0.3183	0.2384	0.2504	0.2685	0.2177	0.0049562	129	26028	rs201157551	0.0004	0.0031	0.0004	0.0003	0.0006	0.0003	0.0003	0.0004	0.0004	0.0006	0	0.0002	0.0001	0	0.0003	0.0004	0.0004	3.636e-05	3.308e-05	0.0006	3.883e-05	2.707e-05	0.0002	1.267e-05	8.03e-06	8.06e-06	3.01e-06	4.862e-05	0	6.573e-05	0	0.0002	0	0	1.481e-05	0	0	.	.	.	0.964	0.02582	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00372	.	.	.	.	.	.	.	0.0019111931	0.00026	T	.	.	.	.	.	.	.	.	.	0.014674221529618755	0.01424	.	.	0.494962483644	0.38127	T	.	.	.	-0.615897	0.00117	T	-1.12247	0.00017	T	.	.	.	0.877512	0.59164	D	.	.	.	.	.	.	.	.	-6.447	0.49876	T	.	.	0.057	0.01328	B	.;.	.;.	-0.545511	0.01726	0.128	0.38162018612620946	0.02558	0.00009	0.00143	N	AEFI	0.015283	0.00284	N	.	.	.	.	.	.	1.12467906276832E-4	0.05269	0.163922	0.03765	0	0.096583	0.02683	0	0.175069	0.04249	0	0.24341	0.04801	0	.	.	.	.	.	-1.085000	0.03500	-20.000000	0.00162	-0.421000	0.05231	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	450	0.79359	.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.07143	364.01	124	chr1	16585590	.	T	C	364.01	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.45;DP=2032;ExcessHet=0.3300;FS=5.004;InbreedingCoeff=-0.0838;MLEAC=3;MLEAF=0.071;MQ=35.21;MQRankSum=-1.963e+00;QD=1.14;ReadPosRankSum=0.634;SOR=1.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:89,0:89:99:.:.:0,120,1800	18	0	3	0
chr1	16585649	16585649	G	A	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	444	1072	6	0	0	6	0.0027907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0132	0.0064	0.0087	0.0063	0.0178	0.0172	0.0154	0.0063	3.84e-05	1	26028	rs758865423	0.0004	0.0031	0.0004	0.0004	0.0021	0.0004	0.0004	0.0010	0.0008	0.0002	4.516e-05	0.0002	0.0002	0.0002	0.0021	0.0005	0.0003	0.0003	0.0001	0.0006	0.0002	5.375e-05	0.0002	7.578e-05	6.282e-05	0.0001	8.889e-05	4.809e-05	0	6.54e-05	0	0	9.429e-05	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1015.11	143	chr1	16585649	.	G	A	1015.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.90;DP=3017;ExcessHet=0.1072;FS=1.823;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=36.53;MQRankSum=1.83;QD=2.54;ReadPosRankSum=0.597;SOR=0.931	GT:AD:DP:GQ:PL	0/0:89,0:89:99:0,120,1800	19	0	2	0
chr1	16591948	16591948	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	379	1141	2	0	0	2	0.000875657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0189	.	0.0131	0.1443	0.0055	0	0	0.0020	0.01	0.0002	0.0105497	1631	154602	rs201576546	0.0001	0.0004	0.0001	0.0001	0.0035	0.0001	0.0001	0.0030	0.0028	0.0035	6.717e-05	0.0010	0	0	0.0005	2.52e-05	0.0002	0	0.0005	0.0015	0.0006	0.0004	0.0018	0.0004	0.0004	0.0014	0.0013	0.0018	0	6.64e-05	0.0006	0	0	0	5.892e-05	0.0014	0	.	.	.	0.115	0.42086	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.21188	.	.	.	.	.	.	.	0.0025278926	0.00038	T	.	.	.	.	.	.	.	.	.	0.06431607410502116	0.06370	.	.	0.538407564163	0.44220	T	.	.	.	-0.212618	0.19012	T	-0.543187	0.17985	T	.	.	.	0.70223	0.31206	T	.	.	.	.	.	.	.	.	1.779	0.00064	T	.	.	0.108	0.34514	B	.;.	.;.	-0.902172	0.00922	0.035	0.92894088285004783	0.22446	0.00184	0.01074	N	AEFDHCIJ	0.027552	0.02270	N	.	.	.	.	.	.	0.999999596339861	0.74766	0.205481	0.04072	1	0.550037	0.16709	0	0.216804	0.04610	0	0.364879	0.05822	1	.	.	0.566	-0.824	0.10266	-4.146000	0.00324	-20.000000	0.00162	-4.525000	0.00027	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	452	0.79239	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1217.98	802	chr1	16591948	.	C	T	1217.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.512e+00;DP=7564;ExcessHet=0.0000;FS=3.802;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.78;MQRankSum=-2.944e+00;QD=1.32;ReadPosRankSum=0.339;SOR=0.943	GT:AD:DP:GQ:PL	0/0:688,0:688:99:0,120,1800	20	0	1	0
chr1	16591991	16591991	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	383	1060	79	0	0	79	0.0359254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	0.0129792	0.0297	0.0079	0.0171	0.0005	0.0368	0.0429	0.0268	0.0118	0.0239389	3701	154602	rs199564458	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	2.238e-05	3.831e-05	0	0	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0004	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.197	0.27855	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.29197	.	.	.	.	.	.	.	0.003590405	0.00065	T	.	.	.	.	.	.	.	.	.	0.05074882340970097	0.05016	.	.	0.617227673531	0.55337	T	.	.	.	-0.342333	0.05228	T	-0.729514	0.04349	T	.	.	.	0.806819	0.45619	T	.	.	.	.	.	.	.	.	-7.512	0.57695	D	.	.	0.081	0.08465	B	.;.	.;.	-0.110497	0.03581	0.696	0.68576904222900414	0.08701	0.00301	0.01603	N	AEFDBHCIJ	0.037390	0.05136	N	.	.	.	.	.	.	0.99999989870109	0.74766	0.205481	0.04072	1	0.188433	0.04229	0	0.216804	0.04610	0	0.364879	0.05822	1	.	.	0.566	-1.13	0.09274	-3.599000	0.00468	-6.832000	0.01295	-4.637000	0.00024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	452	0.79239	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	1619.68	818	chr1	16591991	.	C	T	1619.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.34;DP=7507;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=56.14;MQRankSum=-1.550e+00;QD=0.81;ReadPosRankSum=-6.030e-01;SOR=0.640	GT:AD:DP:GQ:PL	0/0:672,0:672:99:0,120,1800	18	0	3	0
chr1	16757526	16757526	C	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon14:c.G1900C:p.A634P,	.	.	384	766	370	1	1	373	0.195378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	1.0	D	0.999	D	0.001	D	.	.	.	.	.	.	-0.707	T	0.205	T	0.394	0.985	9.021	.	0.502	4.380	6.740	0.404	.	.	.	0.1053	0.0655	0.1365	0.0133	0.1064	0.1147	0.0930	0.1251	0.0830326	12837	154602	rs2446543	6.846e-06	7.593e-05	8.174e-06	5.505e-06	3.482e-05	3.46e-06	2.52e-06	9.25e-06	4.56e-06	2.99e-05	0	0	0	0	0	5.4e-06	0	3.482e-05	2.629e-05	0.0002	3.858e-05	1.344e-05	6.547e-05	8.14e-06	5.14e-06	1.172e-05	6.25e-06	0	0	6.547e-05	0	0	0	0	4.416e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.2143	10056.01	467	chr1	16757526	.	C	G	10056.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-1.907e+00;DP=7504;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=40.50;MQRankSum=-1.159e+00;QD=2.85;ReadPosRankSum=0.494;SOR=0.679	GT:AD:DP:GQ:PL	0/1:245,69:314:99:1214,0,6696	12	0	9	0
chr1	16758952	16758952	G	A	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon10:c.C1244T:p.P415L,	.	.	333	1136	53	0	0	53	0.0227957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	B	0.015	B	0.591	N	.	.	.	.	.	.	-1.000	T	0.058	T	0.188	0.530	6.869	.	-0.000	1.307	5.818	0.050	.	.	.	0.0252	0.0141	0.0169	0	0.0352	0.0336	0.0278	0.0134	0.0211511	3270	154602	rs202225848	0.0008	0.0071	0.0008	0.0008	0.0009	0.0008	0.0007	0.0009	0.0009	0.0003	0.0003	0.0004	0	0.0003	0.0005	0.0009	0.0006	0.0007	0.0021	0.0095	0.0020	0.0022	0.0031	0.0019	0.0018	0.0024	0.0021	0.0006	0.0023	0.0031	0.0024	0	0.0047	0	0.0025	0.0025	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	101.0	541	chr1	16758952	.	G	A	101.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.380e-01;DP=10480;ExcessHet=0.0000;FS=5.893;InbreedingCoeff=-0.0259;MLEAC=1;MLEAF=0.024;MQ=48.90;MQRankSum=-2.328e+00;QD=0.17;ReadPosRankSum=-3.040e-01;SOR=1.249	GT:AD:DP:GQ:PL	0/0:477,0:477:99:0,120,1800	20	0	1	0
chr1	16758987	16758987	C	T	exonic	MST1L	.	stopgain	MST1L:NM_001271733:exon10:c.G1209A:p.W403X,	.	.	331	1188	3	0	0	3	0.00126103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.757	15.18	.	-0.000	0.121	5.818	.	.	.	.	0.0030	0.0001	8.648e-05	0.0001	0	3.077e-05	0.0022	0.0213	3.84e-05	1	26028	rs751831366	0.0002	0.0005	0.0001	0.0002	0.0024	0.0001	0.0001	0.0022	0.0021	2.998e-05	2.26e-05	0	0	0	0.0002	1.802e-06	0.0004	0.0024	4.609e-05	0.0002	1.289e-05	8.08e-05	0.0015	2.113e-05	1.529e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	632.02	541	chr1	16758987	.	C	T	632.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.507e+00;DP=10386;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.024;MQ=45.44;MQRankSum=1.45;QD=1.59;ReadPosRankSum=-3.800e-02;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:477,0:477:99:.:.:0,120,1800	20	0	1	0
chr1	16759377	16759377	A	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon8:c.T949C:p.W317R,	.	.	399	1097	25	1	0	27	0.0121567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.002	N	.	.	.	.	.	.	-1.006	T	0.026	T	0.088	-1.910	0.008	.	-0.000	1.935	2.124	0.133	.	.	.	0.0065	0.0094	0.0043	0.0021	0.0065	0.0062	0.0037	0.0104	0.000461	12	26028	rs1806514	0.0001	0.0022	9.6e-05	0.0001	0.0004	9.186e-05	8.712e-05	0.0002	0.0002	0.0004	6.771e-05	7.747e-05	0.0002	7.612e-05	0.0002	9.597e-05	0.0002	8.16e-05	0.0007	0.0055	0.0007	0.0007	0.0010	0.0006	0.0005	0.0008	0.0007	0.0010	0.0012	0.0009	0	0	0.0006	0	0.0005	0.0010	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	349.12	123	chr1	16759377	.	A	G	349.12	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.33;DP=2661;ExcessHet=0.1072;FS=7.810;InbreedingCoeff=-0.0498;MLEAC=2;MLEAF=0.048;MQ=54.31;MQRankSum=-8.349e+00;QD=0.83;ReadPosRankSum=-1.964e+00;SOR=1.492	GT:AD:DP:GQ:PL	0/0:203,0:203:99:0,120,1800	19	0	2	0
chr1	16759495	16759495	C	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon7:c.G907A:p.V303I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.714	P	0.047	B	.	.	.	.	.	.	.	.	-1.040	T	0.039	T	0.123	-0.140	3.316	.	-0.000	0.649	.	0.012	.	.	.	3.942e-05	0	0	0	0	7.281e-05	0	0	2.59e-05	4	154602	rs763879657	9.141e-05	0.0001	8.755e-05	9.536e-05	0.0001	7.816e-05	7.321e-05	9.544e-05	8.882e-05	6.859e-05	0	0	0	0	0	0.0001	7.229e-05	0	9.448e-06	5.033e-05	1.804e-05	0	1.966e-05	0	0	.	.	0	0	0	0	0	0	0	1.966e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	174.98	119	chr1	16759495	.	C	T	174.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.56;DP=1938;ExcessHet=0.0000;FS=2.133;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.15;MQRankSum=-6.240e-01;QD=1.47;ReadPosRankSum=0.460;SOR=0.678	GT:AD:DP:GQ:PL	0/0:96,0:96:99:0,120,1800	20	0	1	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26,	.	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	13930.12	129	chr1	16759590	.	G	GC	13930.12	.	AC=26;AF=0.619;AN=42;BaseQRankSum=5.56;DP=1816;ExcessHet=4.5793;FS=24.066;InbreedingCoeff=-0.2117;MLEAC=26;MLEAF=0.619;MQ=45.00;MQRankSum=-3.164e+00;QD=9.41;ReadPosRankSum=-3.895e+00;SOR=1.240	GT:AD:DP:GQ:PL	0/1:77,20:97:99:397,0,2455	2	7	12	0
chr1	16760163	16760163	G	C	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon5:c.C585G:p.F195L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.968	D	0.733	P	0.031	N	.	.	.	.	.	.	-0.752	T	0.158	T	0.248	3.202	16.72	.	0.502	1.844	6.740	0.115	.	.	.	0.0002	0	0	0	0	0.0001	0.0128	0	6.5e-06	1	154602	rs758464228	3.141e-05	4.721e-05	2.635e-05	3.654e-05	0.0003	2.395e-05	2.137e-05	0.0001	0.0001	3.197e-05	9.309e-05	0.0004	0.0003	0	0.0002	1.182e-05	6.766e-05	1.182e-05	3.392e-05	5.918e-05	3.968e-05	2.785e-05	5.207e-05	1.292e-05	8.2e-06	8.63e-06	3.23e-06	5.207e-05	0	0	0.0003	0	0	0	2.969e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	55.98	39	chr1	16760163	.	G	C	55.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.34;DP=738;ExcessHet=0.0000;FS=2.366;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=29.73;MQRankSum=-3.440e-01;QD=1.08;ReadPosRankSum=1.69;SOR=1.085	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1248	20	0	1	0
chr1	16760442	16760442	G	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon4:c.C387A:p.N129K,	.	.	382	1064	76	0	0	76	0.0344828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	.	.	.	.	.	.	-0.439	T	0.277	T	0.114	1.871	12.22	.	0.502	0.328	6.740	0.281	.	.	.	0.0106	0.0089	0.0060	0	0.0183	0.0138	0.0126	0.0040	3.84e-05	1	26028	rs772310681	0.0016	0.0086	0.0017	0.0015	0.0027	0.0015	0.0015	0.0017	0.0017	0.0004	0.0002	0.0007	0	0.0028	0.0027	0.0018	0.0011	0.0005	0.0009	0.0060	0.0009	0.0009	0.0012	0.0008	0.0007	0.0010	0.0009	0.0003	0	0.0008	0.0009	0	0.0017	0	0.0012	0.0020	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	607.1	39	chr1	16760442	.	G	T	607.1	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.598e+00;DP=3831;ExcessHet=0.1072;FS=0.651;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=44.34;MQRankSum=0.731;QD=1.68;ReadPosRankSum=-3.790e-01;SOR=0.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:203,0:203:99:.:.:0,120,1800	19	0	2	0
chr1	16760445	16760446	AC	-	exonic	MST1L	.	frameshift deletion	MST1L:NM_001271733:exon4:c.383_384del:p.R128Qfs*3,	.	.	382	1066	74	0	0	74	0.0335449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0107	0.0089	0.0060	0	0.0183	0.0139	0.0127	0.0041	0.001191	31	26028	rs748266310	0.0014	0.0085	0.0015	0.0013	0.0023	0.0013	0.0013	0.0015	0.0015	0.0003	0.0002	0.0007	0	0.0027	0.0023	0.0016	0.0010	0.0005	0.0008	0.0060	0.0008	0.0009	0.0011	0.0007	0.0007	0.0009	0.0008	0.0003	0	0.0009	0.0009	0	0.0015	0	0.0011	0.0010	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	589.07	39	chr1	16760444	.	TAC	T	589.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.72;DP=3844;ExcessHet=0.1072;FS=0.654;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=44.49;MQRankSum=0.731;QD=1.60;ReadPosRankSum=0.00;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:203,0:203:99:.:.:0,120,1800	19	0	2	0
chr1	16760446	16760446	C	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon4:c.G383A:p.R128H,	.	.	392	526	598	0	6	604	0.362424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.001	D	.	.	.	.	.	.	-0.445	T	0.276	T	0.209	2.959	15.86	.	0.502	5.217	6.740	0.397	.	.	0.181909	0.2202	0.1841	0.2823	0.2424	0.2980	0.2226	0.2165	0.1673	0.0075808	1172	154602	rs28462251	1.288e-05	8.414e-05	1.139e-05	1.438e-05	8.359e-05	8.05e-06	6.64e-06	3.866e-05	2.726e-05	0	0	0	2.565e-05	9.971e-05	0	3.769e-06	1.724e-05	8.359e-05	0.0002	0.0011	0.0002	0.0002	0.0002	0.0001	0.0001	9.611e-05	7.423e-05	0.0002	0	0	0	0	0.0009	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.1905	3282.72	39	chr1	16760446	.	C	T	3282.72	.	AC=8;AF=0.190;AN=42;BaseQRankSum=2.49;DP=5013;ExcessHet=3.5521;FS=14.600;InbreedingCoeff=-0.2395;MLEAC=8;MLEAF=0.190;MQ=45.78;MQRankSum=-1.759e+00;QD=1.55;ReadPosRankSum=-3.770e-01;SOR=2.106	GT:AD:DP:GQ:PL	0/1:258,32:290:99:141,0,7185	13	0	8	0
chr1	16760964	16760964	A	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon2:c.T206C:p.M69T,	.	.	338	890	294	0	0	294	0.141755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.191	B	0.089	B	0.081	N	.	.	.	.	.	.	-0.989	T	0.089	T	0.142	-0.797	0.685	.	0.000	1.701	.	0.053	.	.	.	0.1542	0.1357	0.2256	0.0314	0.1520	0.1481	0.1473	0.2082	0.121253	18746	154602	rs11576695	6.842e-07	2.599e-05	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	6.568e-06	5.909e-05	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.125	5178.17	639	chr1	16760964	.	A	G	5178.17	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-1.286e+00;DP=13143;ExcessHet=1.1607;FS=0.760;InbreedingCoeff=-0.1507;MLEAC=5;MLEAF=0.125;MQ=56.59;MQRankSum=2.89;QD=1.46;ReadPosRankSum=0.558;SOR=0.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:561,130:691:99:.:.:1680,0,17260	15	0	5	1
chr1	16961117	16961117	C	G	exonic	CROCC	.	nonsynonymous SNV	CROCC:NM_014675:exon27:c.C4392G:p.D1464E,	.	.	446	1058	16	2	0	20	0.0093633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	.	.	1.000	N	0	N	1.04	T	-0.997	T	0.030	T	0.012	-0.741	0.844	-6.7	-1.655	-4.665	0.659	0.056	.	.	0.0145767	0.0964	0	0	0	.	0	0.2	0.1130	0.0020892	323	154602	rs370892836	0.0026	0.0029	0.0015	0.0038	0.0540	0.0025	0.0025	0.0523	0.0516	0.0003	0.0002	0	3.687e-05	7.125e-05	0.0018	0.0002	0.0037	0.0540	0.0018	0.0018	0.0010	0.0027	0.0539	0.0017	0.0016	0.0485	0.0464	0.0002	0	0.0002	0	0.0002	0.0002	0	5.891e-05	0.0005	0.0539	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.04	0.40218	T	0.53	0.02808	N	0.009	0.00081	-0.9969	0.30783	T	0.030	0.12935	T	9	0.0017902851	0.00023	T	.	.	.	0.056	0.15993	0.108	0.01928	.	.	0.07125673055866635	0.07062	0.450877344562	0.44848	0.6814468503	0.64476	T	.	.	.	-0.764804	0.00014	T	-0.841378	0.01078	T	0.0270888147373451	0.01557	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11027	B	.	.	-2.208493	0.00063	0.001	0.33647280515608818	0.02015	0.00413	0.02050	N	ALL	0.033471	0.03976	N	-2.04926648805489	0.00165	0.00708564	-2.11192790071391	0.00176	0.007728248	0.999999999156064	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.504199	0.09095	0	0.665054	0.64577	0	.	.	3.71	-6.7	0.01602	-3.024000	0.00704	-6.667000	0.01337	-2.336000	0.00312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2357:0.3083:0.1224:0.3336	0.659	0.00786	846	0.36215	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.04762	456.14	12	chr1	16961117	.	C	G	456.14	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.128;DP=500;ExcessHet=0.1072;FS=1.177;InbreedingCoeff=-0.0513;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=0.136;SOR=0.990	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,915	19	0	2	0
chr1	16970697	16970697	G	A	exonic	CROCC	.	nonsynonymous SNV	CROCC:NM_014675:exon35:c.G5714A:p.R1905H,	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.938	P	0.503	P	.	.	0.999	D	2.24	M	2.84	T	-1.090	T	0.036	T	0.161	3.994	20.5	1.04	0.367	2.104	7.001	0.048	0.0239182002988	7.7e-05	.	1.956e-05	0	0	0	0	1.712e-05	0	9.183e-05	1.29e-05	2	154602	rs139547234	4.272e-05	4.994e-05	4.112e-05	4.435e-05	0.0015	3.401e-05	3.087e-05	0.0007	0.0005	6.053e-05	0	3.92e-05	0	0	0.0015	3.973e-05	8.358e-05	2.357e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.412e-05	0	0	0	0	0	0	2.94e-05	0	0	0.077	0.34095	T	0.09	0.40267	T	.	.	.	.	.	.	.	.	.	.	0.999464	0.47157	D	.	.	.	2.84	0.10674	T	-1.43	0.35194	N	0.245	0.27673	-1.0904	0.05466	T	0.036	0.15683	T	9	0.19869787	0.35850	T	0.023918	0.46899	T	0.048	0.13305	.	.	0.282575091529	0.27877	0.2520760041018954	0.25121	0.50911020817	0.49051	0.411735534668	0.26696	T	.	.	.	-0.20263	0.20424	T	-0.528841	0.19402	T	0.656581461429596	0.38746	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12084	B	.	.	2.945790	0.39182	20.9	0.99912658237485397	0.98167	0.69680	0.34284	D	AEFBCI	0.285706	0.39827	N	0.171125758231235	0.49815	3.177909	0.124978862827489	0.45830	2.839286	0.916755764236367	0.26521	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.645665	0.59343	0	.	.	4.6	1.04	0.19220	2.781000	0.47437	2.314000	0.32094	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0962:0.0:0.6183:0.2855	7.001	0.23986	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	946.98	33	chr1	16970697	.	G	A	946.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.80;DP=789;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.01;ReadPosRankSum=-6.900e-02;SOR=0.637	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1256	20	0	1	0
chr1	16986292	16986292	G	A	exonic	ATP13A2	.	nonsynonymous SNV	ATP13A2:NM_001141974:exon27:c.C3170T:p.A1057V	Kufor-Rakeb syndrome, Autosomal recessive;Spastic paraplegia 78, autosomal recessive, Autosomal recessive	.	1	1512	8	1	0	10	0.00329598	.	.	437799	not_provided|Autosomal_recessive_spastic_paraplegia_type_78|Kufor-Rakeb_syndrome|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0014975,MedGen:C5567893,OMIM:617225,Orphanet:513436|MONDO:MONDO:0011706,MedGen:C1847640,OMIM:606693,Orphanet:306674,Orphanet:314632|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.99	D	0.582	P	0.132	N	0.553	D	0.55	N	0.9	T	-0.916	T	0.081	T	0.226	3.388	17.43	2.48	1.079	3.094	8.161	0.070	0.161590559463	7.8e-05	.	0.0005	0.0002	0.0004	0.0002	0	0.0003	0.0021	0.0012	0.0002329	36	154602	rs201610681	0.0002	0.0002	0.0002	0.0003	0.0014	0.0002	0.0002	0.0012	0.0011	2.997e-05	4.712e-05	0.0001	5.111e-05	0	0.0012	0.0002	0.0003	0.0014	0.0002	0.0002	0.0001	0.0003	0.0014	0.0001	0.0001	0.0007	0.0005	9.657e-05	0	0	0	0.0002	0	0	0.0002	0	0.0014	0.006	0.65419	D	0.004	0.74150	D	0.986	0.61523	D	0.582	0.50238	P	0.131815	0.18609	N	0.549123	0.552723	0.32146	D	1.7	0.43825	L	0.9	0.45248	T	-3.01	0.62518	D	0.254	0.32921	-0.9165	0.46024	T	0.081	0.32002	T	10	0.045384973	0.03603	T	0.161591	0.84135	D	0.070	0.20419	.	.	0.624085083283	0.62102	0.3642828060399647	0.36342	0.886748449925	0.70032	0.497064352036	0.38418	T	0.500981	0.82136	D	-0.204498	0.20157	T	-0.107057	0.62845	T	0.0935632881944337	0.11634	T	0.935706	0.75920	D	0.13633862	0.31609	0.14874738	0.35148	0.17195876	0.37859	0.1386834	0.33113	-4.573	0.32559	T	.	.	0.097	0.24901	B	.;.	.;.	3.713286	0.53021	23.3	0.99826621969067608	0.90852	0.93959	0.59690	D	AEFDBI	0.499932	0.53340	N	0.144786882682664	0.48567	3.067285	0.16179607618744	0.47770	3.002299	0.994473646730824	0.33653	0.695654	0.57023	0	0.693144	0.66847	0	0.723109	0.80598	0	0.636168	0.56350	0	.	.	4.61	2.48	0.29194	2.228000	0.42625	4.680000	0.44317	0.618000	0.50648	0.962000	0.33725	1.000000	0.68203	0.985000	0.61073	0.099:0.0:0.7383:0.1627	8.161	0.30361	846	0.36215	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	771.98	46	chr1	16986292	.	G	A	771.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.962;DP=999;ExcessHet=0.0000;FS=0.997;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=-1.980e-01;SOR=0.507	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,111,1430	20	0	1	0
chr1	17086577	17086577	C	T	exonic	PADI2	.	nonsynonymous SNV	PADI2:NM_007365:exon7:c.G778A:p.E260K,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.702	P	0.092	B	0.000	D	1.000	D	0.895	L	2.34	T	-1.037	T	0.028	T	0.335	2.946	15.82	5.08	2.359	5.290	17.044	0.129	0.00995550761828	.	0.000798722	0.0003	0	0	0	0	1.521e-05	0.0011	0.0024	0.0002975	46	154602	rs368879812	0.0002	0.0002	9.257e-05	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	0	0	0	0	1.875e-05	0	2.608e-05	0.0003	0.0022	7.879e-05	7.873e-05	6.424e-05	9.399e-05	0.0023	4.493e-05	3.51e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0.0005	0.0023	0.217	0.19157	T	0.664	0.06427	T	0.702	0.41889	P	0.092	0.30031	B	0.000416	0.44736	D	0.228698	0.999699	0.81001	D	0.75	0.19020	N	2.34	0.16351	T	-0.19	0.11728	N	0.313	0.36884	-1.0372	0.18171	T	0.028	0.11882	T	10	0.015407592	0.00323	T	0.009956	0.25923	T	0.129	0.35316	0.535	0.64439	0.44307954383	0.43928	0.5418401897340078	0.54109	0.246337925955	0.27172	0.575461626053	0.49447	T	0.024309	0.18392	T	-0.489313	0.00655	T	-0.481189	0.24320	T	0.112623423899642	0.13693	T	0.720728	0.73035	T	0.3041114	0.53271	0.22109878	0.46909	0.3041114	0.53271	0.22109878	0.46908	-5.065	0.37537	T	.	.	0.079	0.13923	B	.;.	.;.	3.371448	0.46592	22.3	0.99834858821037875	0.91628	0.89571	0.50120	D	AEFGBI	0.433964	0.49521	N	0.106207246092757	0.46751	2.910804	0.236574809704722	0.51888	3.367685	0.993718641393967	0.33326	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	5.351000	0.65790	7.672000	0.64834	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	17.044	0.86371	830	0.39242	Protein-arginine deiminase (PAD), central domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1554.98	42	chr1	17086577	.	C	T	1554.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.949;DP=815;ExcessHet=0.0000;FS=1.482;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=-1.194e+00;SOR=0.856	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr1	17093626	17093626	C	T	exonic	PADI2	.	nonsynonymous SNV	PADI2:NM_007365:exon5:c.G470A:p.R157Q,	.	.	385	1133	4	0	0	4	0.00176211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.001	B	0.003	B	0.001	D	1.000	D	1.775	L	2.44	T	-1.126	T	0.045	T	0.384	3.185	16.66	5.82	2.756	1.163	12.051	0.121	0.00810368549857	0.0007	0.00159744	0.0008	9.61e-05	8.64e-05	0.0001	0	0.0010	0	0.0012	0.0006921	107	154602	rs138321729	0.0006	0.0006	0.0006	0.0006	0.0036	0.0006	0.0006	0.0024	0.0020	0.0001	0.0002	0.0068	0.0004	0	0.0036	0.0005	0.0008	0.0009	0.0006	0.0006	0.0006	0.0005	0.0015	0.0005	0.0004	0.0007	0.0005	0.0001	0	0.0003	0.0066	0.0004	0	0.0034	0.0006	0.0005	0.0015	0.138	0.51248	T	0.379	0.37730	T	0.001	0.07471	B	0.003	0.08700	B	0.000677	0.42516	D	0.235751	0.834056	0.81001	D	2.14	0.59869	M	2.44	0.15145	T	-2.06	0.50992	N	0.287	0.33250	-1.1259	0.01989	T	0.045	0.19356	T	10	0.0055550337	0.00123	T	0.008104	0.21470	T	0.121	0.33580	.	.	0.280181792013	0.27631	0.5118119120164202	0.51103	0.220525867685	0.24599	0.323958933353	0.14020	T	0.073982	0.34828	T	-0.421763	0.01667	T	-0.434957	0.29375	T	0.0277176089584827	0.01646	T	0.90371	0.66210	D	0.18777637	0.40247	0.08773608	0.20413	0.18777637	0.40247	0.08773608	0.20412	-5.331	0.40249	T	.	.	0.105	0.19235	B	.;.	.;.	4.122902	0.61634	24.4	0.99837769754522609	0.91886	0.75087	0.36750	D	AEFDBI	0.247328	0.36792	N	-0.00707809986407273	0.41535	2.486062	0.171011864005738	0.48265	3.044869	0.99939357735269	0.39470	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.82	5.82	0.92740	1.630000	0.36693	4.785000	0.44861	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.927000	0.46353	0.0:0.9212:0.0:0.0788	12.051	0.52804	824	0.40336	Protein-arginine deiminase (PAD), central domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1823.98	39	chr1	17093626	.	C	T	1823.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.085e+00;DP=866;ExcessHet=0.0000;FS=1.223;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=0.435;SOR=0.798	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1293	20	0	1	0
chr1	17270928	17270928	C	T	exonic	PADI3	.	nonsynonymous SNV	PADI3:NM_016233:exon8:c.C881T:p.A294V,	Uncombable hair syndrome, Autosomal recessive	YES	411	1102	9	0	0	9	0.00406688	.	.	361772	not_provided|PADI3-related_disorder|Uncombable_hair_syndrome_1|not_specified	MedGen:C3661900|.|MONDO:MONDO:0020736,MedGen:C4551573,OMIM:191480,Orphanet:1410|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.996	D	0.000	D	1.000	D	3.025	M	1.44	T	-0.568	T	0.195	T	0.364	5.382	34	5.55	2.613	7.236	18.078	0.448	.	0.0074	0.00279553	0.0067	0.0009	0.0020	0	0.0056	0.0097	0.0055	0.0052	0.006714	1038	154602	rs144080386	0.0077	0.0077	0.0077	0.0077	0.0084	0.0076	0.0075	0.0082	0.0082	0.0011	0.0031	0.0162	2.519e-05	0.0073	0.0028	0.0084	0.0069	0.0059	0.0062	0.0062	0.0062	0.0062	0.0093	0.0059	0.0058	0.0087	0.0085	0.0016	0	0.0055	0.0181	0.0002	0.0068	0.0034	0.0093	0.0024	0.0046	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.053221	0.99997	0.53665	D	3.14	0.88230	M	1.44	0.32722	T	-3.64	0.69835	D	0.985	0.99410	-0.5675	0.66114	T	0.195	0.54927	T	10	0.02340281	0.00611	T	.	.	.	0.448	0.74935	.	.	0.514980250562	0.51141	0.7737417385154324	0.77324	0.51335870114	0.49332	0.731342971325	0.71702	T	0.222814	0.58677	T	-0.365675	0.03819	T	-0.287656	0.46015	T	0.0248844591339173	0.01257	T	.	.	.	0.7620526	0.81574	0.66998434	0.80638	0.7620526	0.81576	0.66998434	0.80639	-7.261	0.55918	T	.	.	0.469	0.63129	A	.	.	4.461336	0.69433	25.4	0.99917547079578173	0.98518	0.98826	0.87362	D	AEFDI	0.786183	0.71634	D	0.903074328166432	0.91909	11.12968	0.851287722356534	0.93089	11.81852	0.999999999992077	0.74766	0.533608	0.22052	0	0.573888	0.26702	0	0.685742	0.62368	0	0.564101	0.26826	0	.	.	5.55	5.55	0.83298	7.376000	0.78918	4.062000	0.41595	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.978000	0.57271	0.0:1.0:0.0:0.0	18.078	0.89362	689	0.59000	Protein-arginine deiminase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	836.98	77	chr1	17270928	.	C	T	836.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.433;DP=801;ExcessHet=0.0000;FS=0.858;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=0.067;SOR=0.808	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1128	20	0	1	0
chr1	17282952	17282952	C	T	exonic	PADI3	.	nonsynonymous SNV	PADI3:NM_016233:exon16:c.C1868T:p.P623L,	Uncombable hair syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.993	D	0.001	D	1.000	D	3.185	M	1.22	T	-0.285	T	0.298	T	0.572	4.291	22.4	5.0	2.317	4.776	16.888	0.332	0.0484006719296	.	.	0.0002	0	0	0.0001	0.0026	0.0001	0	0	0.0001617	25	154602	rs200319177	0.0001	0.0001	0.0002	0.0001	0.0002	0.0001	0.0001	8.1e-06	6.42e-06	0	0	0	2.519e-05	0.0035	0.0002	1.349e-05	0.0002	0	0.0002	0.0002	0.0002	0.0002	4.824e-05	0.0002	0.0001	1.171e-05	6.25e-06	4.824e-05	0	0	0	0	0.0026	0	4.409e-05	0	0	0.01	0.56456	D	0.009	0.66756	D	1.0	0.90584	D	0.993	0.81110	D	0.000816	0.41658	D	0.204875	0.999998	0.58761	D	2.55	0.74443	M	1.22	0.37052	T	-8.89	0.97914	D	0.544	0.57092	-0.2848	0.75410	T	0.298	0.66961	T	10	0.056569338	0.06361	T	0.048401	0.63358	D	0.332	0.65424	.	.	0.514416127146	0.51083	0.5691985806029526	0.56847	0.51877166463	0.49718	0.56741309166	0.48312	T	0.162243	0.50683	T	-0.118831	0.33316	T	-0.278018	0.47006	T	0.347586353263014	0.26924	T	.	.	.	0.46423894	0.64934	0.3682105	0.62115	0.46423894	0.64935	0.3682105	0.62115	-9.93	0.73492	D	.	.	0.206	0.43283	B	.	.	4.840503	0.79023	27.0	0.99873145091418647	0.95076	0.92143	0.55040	D	AEFBI	0.611401	0.59987	D	0.805689322851425	0.86462	8.892856	0.727972725372585	0.84502	8.309901	0.999999591998598	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.0	5.0	0.66209	4.854000	0.62617	7.689000	0.65692	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.636000	0.32315	0.0:1.0:0.0:0.0	16.888	0.85948	693	0.58582	Protein-arginine deiminase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1448.98	33	chr1	17282952	.	C	T	1448.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.13;DP=815;ExcessHet=0.0000;FS=5.785;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-1.348e+00;SOR=1.241	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1284	20	0	1	0
chr1	17363589	17363589	G	A	exonic	PADI4	.	nonsynonymous SNV	PADI4:NM_012387:exon16:c.G1826A:p.R609H,	.	.	0	225	1	0	0	1	0.00221729	.	.	3367569	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.18	T	0.021	B	0.007	B	0.733	N	1.000	N	1.69	L	1.73	T	-0.961	T	0.059	T	0.092	1.755	11.83	-3.63	-0.506	0.022	11.915	0.079	0.00591448717211	7.7e-05	.	4.268e-05	0	0.0003	0	0	3.093e-05	0	0	4.53e-05	7	154602	rs201235053	8.483e-05	8.482e-05	9.801e-05	7.151e-05	0.0007	7.209e-05	6.797e-05	0.0002	0.0001	5.974e-05	0.0001	0	2.519e-05	0	0.0007	9.353e-05	0.0001	0	0.0001	0.0001	0.0001	8.054e-05	0.0003	6.505e-05	5.317e-05	0.0001	8.277e-05	7.213e-05	0	0.0003	0	0	0	0	0.0001	0.0005	0	0.06	0.37326	T	0.131	0.34596	T	0.021	0.18474	B	0.007	0.12992	B	0.732957	0.06381	N	1.116950	1.000	0.19694	N	1.44	0.36004	L	1.73	0.26445	T	-2.22	0.49846	N	0.075	0.04913	-0.9614	0.38916	T	0.059	0.24871	T	10	0.11791366	0.22281	T	0.005914	0.15400	T	0.079	0.23065	.	.	0.144782658237	0.14088	0.3787417725298875	0.37789	0.152986545687	0.17264	0.207958370447	0.00727	T	0.086969	0.37840	T	-0.45131	0.01110	T	-0.694369	0.06139	T	0.801372349262238	0.46447	D	.	.	.	0.06467212	0.13746	0.08497663	0.19589	0.06467212	0.13746	0.08497663	0.19589	-6.529	0.50510	T	.	.	0.072	0.04277	B	.	.	1.546974	0.19829	14.46	0.95602040289707269	0.27341	0.08692	0.14585	N	AEFBI	0.087772	0.17797	N	-1.06740516472559	0.07250	0.3362398	-1.07089077538673	0.08278	0.4062791	0.946856430729388	0.27726	0.549168	0.22868	0	0.627178	0.54094	0	0.48864	0.07692	0	0.564101	0.26826	0	.	.	5.03	-3.63	0.04238	-0.057000	0.11726	-1.897000	0.04533	-0.681000	0.04224	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.6223:0.0:0.3777:0.0	11.915	0.52041	668	0.61153	Protein-arginine deiminase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1412.98	33	chr1	17363589	.	G	A	1412.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.998;DP=821;ExcessHet=0.0000;FS=0.674;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=1.33;SOR=0.772	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1405	20	0	1	0
chr1	18482171	18482171	G	A	exonic	KLHDC7A	.	nonsynonymous SNV	KLHDC7A:NM_152375:exon1:c.G1190A:p.G397D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.001	B	0.002	B	0.071	N	1.000	N	0.69	N	-0.7	T	-0.976	T	0.207	T	0.092	-0.894	0.451	0.505	-0.031	0.084	10.083	0.078	0.0144603345422	.	.	8.877e-06	0	8.878e-05	0	0	0	0	0	6.5e-06	1	154602	rs751598001	1.371e-06	1.368e-06	1.364e-06	1.377e-06	2.237e-05	2.3e-07	9e-08	.	.	0	2.237e-05	0	0	0	0	8.994e-07	0	0	6.57e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.427	0.09629	T	0.511	0.10785	T	0.0	0.02946	B	0.001	0.04355	B	0.071294	0.02253	N	1.979650	1	0.08975	N	1.04	0.26193	L	-0.7	0.72785	T	0.51	0.02898	N	0.159	0.16586	-0.9760	0.35904	T	0.207	0.56540	T	10	0.050219685	0.04724	T	0.01446	0.34591	T	0.078	0.22779	0.273	0.22369	0.151104730317	0.14643	0.20152943587535704	0.20069	0.487117167141	0.47548	0.296558916569	0.09890	T	0.004839	0.04259	T	-0.280077	0.10658	T	-0.557223	0.16638	T	0.0809161886572838	0.10104	T	0.272073	0.04599	T	0.033464484	0.03570	0.055461735	0.09732	0.033464484	0.03570	0.055461735	0.09732	-4.855	0.35225	T	.	.	0.079	0.07318	B	.	.	0.178274	0.05660	2.111	0.46589244528047979	0.03743	0.10040	0.15654	N	AEFDBCI	0.070862	0.14083	N	-1.5119040053557	0.01771	0.07757435	-1.4933318807258	0.02398	0.1102409	0.99674226924916	0.34974	0.487112	0.14033	0	0.547309	0.14657	0	0.584781	0.30282	0	0.564101	0.26826	0	.	.	5.16	0.505	0.16157	0.150000	0.16082	0.527000	0.19215	-0.297000	0.06226	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4576:0.0:0.5424:0.0	10.083	0.41572	975	0.05339	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	849.98	41	chr1	18482171	.	G	A	849.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.620e+00;DP=984;ExcessHet=0.0000;FS=6.909;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.28;ReadPosRankSum=1.14;SOR=0.225	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	20	0	1	0
chr1	18482857	18482857	G	C	exonic	KLHDC7A	.	nonsynonymous SNV	KLHDC7A:NM_152375:exon1:c.G1876C:p.A626P,	.	.	431	1065	24	2	0	28	0.012975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	1.0	D	0.000	D	1.000	D	2.495	M	-0.28	T	0.069	D	0.508	D	0.799	4.771	26.8	5.09	2.351	7.898	17.059	0.669	.	0.0002	0.0339457	0.0195	0.0005	0.0012	0.0001	0	0.0002	0.0176	0.1335	0.0157695	2438	154602	rs137875112	0.0077	0.0077	0.0043	0.0111	0.1216	0.0076	0.0075	0.1197	0.1189	0.0005	0.0002	0	7.561e-05	0	0.0038	0.0002	0.0082	0.1216	0.0045	0.0045	0.0025	0.0065	0.1363	0.0042	0.0041	0.1277	0.1243	0.0002	0	0.0003	0	0.0006	0	0	7.35e-05	0.0019	0.1363	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.67	0.78151	M	-0.28	0.67543	T	-4.99	0.82221	D	0.276	0.31253	0.069	0.83603	D	0.508	0.81498	D	10	0.002309084	0.00034	T	.	.	.	0.669	0.87722	.	.	.	.	0.855593517401203	0.85522	1.34841275358	0.84028	0.710741639137	0.68701	T	0.134846	0.46632	T	-0.162255	0.26414	T	0.101277	0.76992	D	0.0808052761480006	0.10090	T	0.818018	0.47523	T	0.93457544	0.94697	0.8894984	0.94231	0.93457544	0.94697	0.8894984	0.94231	-10.349	0.75975	D	.	.	0.383	0.58588	A	.	.	5.220644	0.87614	29.3	0.99748549339016168	0.84077	0.99423	0.95841	D	AEFDBHI	0.957521	0.97676	D	0.813802399230385	0.86962	9.056622	0.76634760555131	0.87372	9.199578	0.999999958725453	0.74766	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.564101	0.26826	0	.	.	5.09	5.09	0.68647	8.019000	0.89128	11.799000	0.96598	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	17.059	0.86417	975	0.05339	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1924.98	41	chr1	18482857	.	G	C	1924.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.914;DP=938;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=-2.922e+00;SOR=0.701	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1378	20	0	1	0
chr1	18849511	18849511	C	T	exonic	TAS1R2	.	nonsynonymous SNV	TAS1R2:NM_152232:exon4:c.G1297A:p.D433N,	.	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.064	B	0.031	B	0.741	N	0.998	N	-0.55	N	-1.64	D	-0.853	T	0.191	T	0.023	0.700	7.733	3.29	0.577	1.811	8.157	0.218	0.0338602246683	0.0034	0.00119808	0.0028	0.0005	0.0003	0	0.0079	0.0040	0.0011	0.0002	0.002749	425	154602	rs114026861	0.0035	0.0035	0.0036	0.0035	0.0041	0.0035	0.0034	0.0040	0.0039	0.0005	0.0008	0.0011	0	0.0066	0.0017	0.0041	0.0028	0.0005	0.0025	0.0025	0.0028	0.0021	0.0039	0.0023	0.0022	0.0036	0.0034	0.0006	0	0.0012	0	0	0.0049	0	0.0039	0.0038	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.064	0.23455	B	0.031	0.21939	B	0.741263	0.09774	N	0.866057	0.997701	0.22545	N	0.6	0.15550	N	-1.64	0.82533	D	2.13	0.00351	N	0.153	0.15749	-0.8528	0.51774	T	0.191	0.54272	T	10	0.00522393	0.00114	T	0.03386	0.55276	D	0.218	0.51265	.	.	0.36355261348	0.35965	0.30355471988022065	0.30268	0.14787748836	0.16680	0.285546183586	0.08277	T	0.052156	0.29082	T	-0.51547	0.00467	T	-0.511709	0.21139	T	0.0113985631558402	0.00170	T	0.69513	0.30474	T	0.07667786	0.17358	0.06899554	0.14481	0.07667786	0.17358	0.06899554	0.14481	-4.117	0.25540	T	.	.	0.084	0.09917	B	.	.	2.440896	0.31414	18.73	0.92888161504990185	0.22438	0.51186	0.28837	D	AEFBI	0.061413	0.11741	N	-0.525507612603662	0.21258	1.126823	-0.359510147621444	0.26216	1.446588	7.61123368472725E-5	0.04552	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.562822	0.20929	0	.	.	5.16	3.29	0.36801	2.086000	0.41268	4.633000	0.44124	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.780000	0.36908	0.0:0.8323:0.0:0.1677	8.157	0.30334	946	0.12043	Receptor, ligand binding region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1592.98	33	chr1	18849511	.	C	T	1592.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.687e+00;DP=832;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.75;ReadPosRankSum=-1.368e+00;SOR=0.776	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1364	20	0	1	0
chr1	18955909	18955909	C	G	exonic	IFFO2	.	nonsynonymous SNV	IFFO2:NM_001136265:exon1:c.G424C:p.G142R,	.	.	416	1102	4	0	0	4	0.00181159	.	.	2379426	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.905	P	0.209	B	.	.	0.937	D	0	N	-1.82	D	-0.615	T	0.264	T	0.326	3.152	16.54	2.54	0.587	-0.083	6.876	0.313	0.898494981951	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs370494370	0.0002	0.0001	0.0001	0.0002	0.0021	0.0001	0.0001	0.0017	0.0016	0	0.0001	0.0012	3.753e-05	0	0.0015	4.883e-05	0.0003	0.0021	0.0002	0.0002	0.0001	0.0002	0.0014	0.0001	0.0001	0.0007	0.0005	0	0	0.0006	0.0009	0	0	0	0.0001	0.0005	0.0014	0.066	0.36113	T	0.29	0.21011	T	0.905	0.49920	P	0.209	0.37260	B	.	.	.	.	0.937335	0.37187	D	0.895	0.22405	L	-1.82	0.84047	D	-0.64	0.18670	N	0.196	0.21580	-0.6149	0.64200	T	0.264	0.63490	T	9	0.25242892	0.42596	T	0.898495	0.99234	D	0.313	0.63482	0.455	0.51938	0.900172032954	0.89917	0.38319869897876485	0.38234	2.24294379734	0.96033	0.897528529167	0.96162	D	0.00567	0.05119	T	-0.0026855	0.51283	T	-0.241634	0.50640	T	0.532484601304938	0.33826	D	0.615438	0.23533	T	0.08733064	0.20331	0.11842355	0.28586	0.08733064	0.20331	0.11842355	0.28585	-4.733	0.33801	T	.	.	0.250	0.48489	B	.	.	2.975611	0.39672	21.0	0.99031981466391183	0.50830	0.36280	0.25497	N	ALL	0.140310	0.26218	N	-0.246324631323865	0.31250	1.750409	-0.200201550603109	0.31530	1.785231	0.999999999999944	0.74766	0.623204	0.39778	0	0.218748	0.04544	0	0.378051	0.06126	2	0.249971	0.05119	0	.	.	3.46	2.54	0.29674	1.487000	0.35149	1.889000	0.29504	0.428000	0.20880	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.8623:0.0:0.1377	6.876	0.23329	917	0.20147	Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	537.98	32	chr1	18955909	.	C	G	537.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.414e+00;DP=725;ExcessHet=0.0000;FS=5.760;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.81;ReadPosRankSum=0.917;SOR=0.499	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1117	20	0	1	0
chr1	19119676	19119676	G	A	exonic	UBR4	.	nonsynonymous SNV	UBR4:NM_020765:exon70:c.C10336T:p.L3446F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.001	B	0.003	B	0.000	D	1.000	D	1.1	L	-0.16	T	-0.916	T	0.164	T	0.393	3.541	18.07	5.04	1.532	4.230	11.018	0.068	0.0102062196391	.	.	8.245e-06	0	0	0	0	0	0	6.075e-05	6.5e-06	1	154602	rs764267724	3.424e-06	3.42e-06	4.086e-06	2.755e-06	0.0002	1e-06	7.3e-07	3.85e-06	1.44e-06	0	2.238e-05	0	0	0	0.0002	9.004e-07	0	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.33418	T	.	.	.	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	0.66	0.16226	N	-0.16	0.65378	T	-1.59	0.38345	N	0.69	0.69562	-0.9163	0.46050	T	0.164	0.50176	T	10	0.32360423	0.49695	T	0.010206	0.26478	T	0.068	0.19811	0.301	0.26843	0.043077524339	0.03247	0.22467990814059002	0.22382	1.86334380764	0.92429	0.801972150803	0.82264	T	0.235805	0.60314	T	-0.156293	0.27332	T	-0.280753	0.46728	T	0.486415266990662	0.32133	T	0.973903	0.90628	D	0.14832357	0.33866	0.16086681	0.37447	0.14832357	0.33866	0.16086681	0.37446	-5.848	0.44990	T	.	.	0.144	0.31733	B	.	.	3.860315	0.55978	23.7	0.99661549509175684	0.77947	0.95997	0.67068	D	AEFBI	0.290906	0.40217	N	-0.0581046289025043	0.39241	2.310926	0.133882127440065	0.46294	2.877676	0.791626923026973	0.24025	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	5.04	0.67293	4.309000	0.58928	10.040000	0.83183	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.15:0.0:0.85:0.0	11.018	0.46917	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	818.98	38	chr1	19119676	.	G	A	818.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.442e+00;DP=734;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.75;ReadPosRankSum=1.81;SOR=0.648	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1348	20	0	1	0
chr1	19161073	19161073	C	A	exonic	UBR4	.	nonsynonymous SNV	UBR4:NM_020765:exon38:c.G5250T:p.R1750S,	.	.	.	.	.	.	.	.	.	.	.	2713003	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.74	T	0.043	B	0.016	B	0.000	D	1.000	D	0.895	L	1.94	T	-1.031	T	0.032	T	0.713	0.123	4.662	0.904	-0.063	0.152	6.418	0.184	0.0122952606353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.472e-06	5.472e-06	2.722e-06	8.25e-06	2.319e-05	2.35e-06	1.7e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	4.496e-06	1.656e-05	2.319e-05	1.315e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.654	0.06935	T	.	.	.	0.043	0.21573	B	0.016	0.17743	B	0.000001	0.84330	D	0.055380	0.999231	0.46406	D	0.695	0.17993	N	1.93	0.22881	T	-0.16	0.09965	N	0.864	0.86085	-1.0308	0.20195	T	0.032	0.13898	T	10	0.07939494	0.12767	T	0.012295	0.30730	T	0.184	0.45763	0.246	0.18139	0.143184338766	0.13958	0.5293561410675025	0.52859	0.525990021635	0.50232	0.640161693096	0.58588	T	0.101943	0.40918	T	-0.0492105	0.44568	T	-0.308464	0.43824	T	0.234172031283379	0.22149	T	0.962204	0.85735	D	0.120385885	0.28329	0.07639379	0.16916	0.120385885	0.28329	0.07639379	0.16916	-1.943	0.02973	T	.	.	0.499	0.66295	A	.;.	.;.	2.790665	0.36681	20.3	0.82601755137216892	0.14277	0.80572	0.40174	D	AEFBHCI	0.130580	0.24919	N	-0.691519871146396	0.16262	0.826959	-0.528146291191307	0.21391	1.156912	0.984972297814767	0.30805	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.93	0.904	0.18433	0.170000	0.16476	0.440000	0.18415	-0.176000	0.10722	0.993000	0.37899	0.994000	0.32194	0.983000	0.59808	0.0:0.3871:0.3071:0.3058	6.418	0.20930	851	0.35303	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1389.98	34	chr1	19161073	.	C	A	1389.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.050e-01;DP=854;ExcessHet=0.0000;FS=2.094;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.65;ReadPosRankSum=-9.080e-01;SOR=0.786	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1183	20	0	1	0
chr1	19238028	19238028	G	A	exonic	EMC1	.	nonsynonymous SNV	EMC1:NM_001271429:exon10:c.C1135T:p.R379W	Cerebellar atrophy, visual impairment, and psychomotor retardation, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	987070	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.999	D	0.859	P	0.000	D	1.000	D	1.59	L	1.88	T	-0.757	T	0.259	T	0.577	4.642	25.5	6.17	2.941	4.516	15.114	0.123	0.0135088553734	.	.	0.0002	0.0001	9.321e-05	0	0	0	0	0.0011	0.0001229	19	154602	rs778418940	8.074e-05	8.14e-05	5.31e-05	0.0001	0.0012	6.87e-05	6.422e-05	0.0010	0.0009	5.975e-05	2.24e-05	0	0	0	0	4.497e-06	0.0001	0.0012	5.912e-05	5.909e-05	3.853e-05	8.068e-05	0.0014	3.076e-05	2.209e-05	0.0007	0.0005	4.823e-05	0	0	0	0	0	0	0	0	0.0014	0.005	0.65419	D	0.017	0.60337	D	0.998	0.73220	D	0.727	0.60373	P	0.000031	0.55875	D	0.152878	0.992398	0.41633	D	1.1	0.28011	L	1.88	0.24085	T	-1.27	0.31981	N	0.602	0.62950	-0.7568	0.57578	T	0.259	0.63021	T	10	0.15790883	0.29707	T	0.013509	0.32968	T	0.226	0.52472	0.446	0.50466	0.524428966543	0.52088	0.5936250769215557	0.59292	0.550267892348	0.51893	0.410712629557	0.26556	T	0.015109	0.12739	T	-0.354568	0.04447	T	-0.33253	0.41188	T	0.0991138419228976	0.12259	T	0.96937	0.88985	D	0.10463755	0.24737	0.05732929	0.10402	0.10463755	0.24737	0.05732929	0.10401	-5.906	0.45664	T	0.6818623878253498	0.75836	0.105	0.20274	B	.;.;.	.;.;.	5.035481	0.83781	28.1	0.99930011405688934	0.99334	0.95306	0.64209	D	AEFBI	0.699664	0.65694	D	0.448494020479418	0.64118	4.659287	0.555346564115973	0.71771	5.705767	0.705139732175109	0.22749	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	4.587000	0.60702	7.624000	0.62436	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.858:0.142	15.114	0.72054	779	0.47767	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1238.98	33	chr1	19238028	.	G	A	1238.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=807;ExcessHet=0.0000;FS=4.634;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.96;ReadPosRankSum=-1.219e+00;SOR=1.117	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1390	20	0	1	0
chr1	19239888	19239888	A	G	exonic	EMC1	.	nonsynonymous SNV	EMC1:NM_001271429:exon7:c.T818C:p.L273S	Cerebellar atrophy, visual impairment, and psychomotor retardation, Autosomal recessive	.	429	1082	11	0	0	11	0.00505747	.	.	1153394	not_provided|Retinal_dystrophy|Cerebellar_atrophy,_visual_impairment,_and_psychomotor_retardation%3B	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0014811,MedGen:C4225172,OMIM:616875	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.42	T	0.979	D	0.79	P	0.000	D	1.000	D	1.67	L	1.39	T	-1.131	T	0.021	T	0.822	4.281	22.4	5.72	2.174	8.671	14.844	0.212	.	0.0002	0.0203674	0.0126	9.626e-05	0.0354	0.0698	0.0014	0.0004	0.0121	0.0282	0.0112547	1740	154602	rs3850531	0.0047	0.0048	0.0043	0.0052	0.0683	0.0047	0.0046	0.0661	0.0653	0.0003	0.0286	0	0.0683	0.0019	0.0014	0.0002	0.0060	0.0266	0.0047	0.0047	0.0039	0.0055	0.0656	0.0044	0.0043	0.0598	0.0576	0.0002	0	0.0114	0	0.0656	0.0008	0	0.0001	0.0028	0.0340	0.096	0.78490	T	0.002	0.79402	D	0.964	0.55854	D	0.621	0.51426	P	0.000096	0.51296	D	0.134805	0.999951	0.52396	D	2.125	0.59049	M	1.39	0.35031	T	-1.69	0.45042	N	0.268	0.46928	-1.1305	0.01758	T	0.021	0.08917	T	10	0.0030947328	0.00051	T	.	.	.	0.212	0.50341	.	.	.	.	0.8386410710141124	0.83824	1.12563053884	0.78449	0.509719252586	0.40184	T	0.016819	0.13832	T	-0.207494	0.19734	T	-0.0173732	0.69202	D	0.0554962634532404	0.06440	T	0.865513	0.56452	D	0.31484368	0.54201	0.21973296	0.46724	0.28136128	0.51179	0.21973296	0.46723	-4.597	0.33015	T	0.3831905074263139	0.47734	0.720	0.78596	P	.;.;.	.;.;.	4.440638	0.68943	25.3	0.99816337348890893	0.89973	0.97460	0.74892	D	AEFBHCI	0.910182	0.86777	D	0.575327708079049	0.71638	5.681263	0.628786310720312	0.77041	6.603354	0.999999990037617	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.72	5.72	0.89380	8.697000	0.91034	9.354000	0.80321	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	1.0:0.0:0.0:0.0	14.844	0.69881	778	0.48011	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3579.11	38	chr1	19239888	.	A	G	3579.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.680e-01;DP=1096;ExcessHet=0.1072;FS=2.266;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.17;ReadPosRankSum=0.791;SOR=0.579	GT:AD:DP:GQ:PL	0/1:132,100:232:99:2295,0,3271	19	0	2	0
chr1	19243991	19243991	G	A	exonic	EMC1	.	nonsynonymous SNV	EMC1:NM_001271427:exon3:c.C245T:p.T82M	Cerebellar atrophy, visual impairment, and psychomotor retardation, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	216792	Inborn_genetic_diseases|not_specified|Cerebellar_atrophy,_visual_impairment,_and_psychomotor_retardation%3B|not_provided|EMC1-related_disorder	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0014811,MedGen:C4225172,OMIM:616875|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.13	T	0.994	D	0.828	P	0.000	D	1.000	D	1.5	L	0.89	T	-0.931	T	0.172	T	0.369	4.428	23.5	5.08	2.873	4.740	15.580	0.148	0.0121936954801	.	.	.	.	.	.	.	.	.	.	.	.	.	rs869320625	2.189e-05	2.189e-05	2.45e-05	1.925e-05	2.698e-05	1.584e-05	1.356e-05	1.914e-05	1.661e-05	0	0	0	0	0	0	2.698e-05	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.50676	D	0.186	0.28860	T	0.988	0.66517	D	0.828	0.59497	P	0.000006	0.62929	D	0.143658	0.996625	0.81001	D	1.67	0.42885	L	0.89	0.45636	T	-1.18	0.31576	N	0.816	0.81162	-0.9312	0.43963	T	0.172	0.51484	T	10	0.7221659	0.73735	D	0.012194	0.30540	T	0.148	0.39182	.	.	0.77875509527	0.77672	0.46665215934089405	0.46584	0.97207340511	0.73401	0.499712109566	0.38788	T	0.015148	0.12759	T	-0.151847	0.28022	T	-0.35904	0.38163	T	0.768307268619537	0.44338	D	0.966103	0.87544	D	0.048998058	0.08630	0.061029535	0.11720	0.05895431	0.11923	0.061029535	0.11720	-7.445	0.57243	T	.	.	0.089	0.25462	B	.;.	.;.	4.771348	0.77247	26.7	0.99878478987883057	0.95491	0.97402	0.74521	D	AEFBI	0.477328	0.52036	N	0.599481369089772	0.73143	5.918114	0.636163549955684	0.77583	6.707588	0.974983052718382	0.29592	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.04	5.08	0.68373	4.929000	0.63156	8.532000	0.77460	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.892000	0.42986	0.0:0.1379:0.862:0.0	15.580	0.76171	754	0.51307	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1347.98	37	chr1	19243991	.	G	A	1347.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.470e-01;DP=862;ExcessHet=0.0000;FS=4.143;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.06;ReadPosRankSum=-1.140e-01;SOR=0.668	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr1	19344367	19344367	T	C	exonic	CAPZB	.	nonsynonymous SNV	CAPZB:NM_001206540:exon8:c.A722G:p.N241S	.	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.003	B	0.004	B	0.000	D	1.000	D	0.345	N	.	.	-1.031	T	0.079	T	0.137	2.234	13.43	5.66	2.154	4.905	13.258	0.089	.	8.1e-05	0.000798722	0.0019	0	0	0	0.0159	0.0017	0.0056	0	0.0014942	231	154602	rs181908306	0.0008	0.0008	0.0009	0.0008	0.0003	0.0008	0.0008	0.0002	0.0002	0	0	0	0	0.0160	0.0002	0.0003	0.0011	1.16e-05	0.0016	0.0016	0.0012	0.0021	0.0009	0.0014	0.0014	0.0007	0.0006	2.404e-05	0	6.532e-05	0	0	0.0171	0	0.0009	0.0019	0	0.353	0.15823	T	0.667	0.07716	T	0.003	0.11197	B	0.002	0.10090	B	0.000001	0.62929	D	0.096959	0.999999	0.81001	D	0.55	0.14455	N	.	.	.	-2.2	0.49519	N	0.49	0.53269	-1.0306	0.20260	T	0.079	0.31375	T	9	0.008600771	0.00195	T	.	.	.	0.089	0.25827	.	.	0.490443569015	0.48678	0.6446988278894185	0.64404	1.20405714615	0.80630	0.608741998672	0.54138	T	0.105473	0.43726	T	-0.457447	0.01019	T	-0.435416	0.29321	T	0.0938115930214559	0.11663	T	0.985501	0.95103	D	0.12703568	0.29737	0.13064669	0.31387	0.12703568	0.29737	0.13064669	0.31387	-3.041	0.10629	T	.	.	0.116	0.23325	B	.;.;.;.	.;.;.;.	3.527336	0.49472	22.8	0.99014866982362859	0.50441	0.82897	0.42065	D	AEFGBHCI	0.743872	0.68704	D	-0.205123203179506	0.32924	1.862139	0.0271765267323483	0.40980	2.454536	0.999999989331266	0.74766	0.712529	0.81865	0	0.702456	0.74545	0	0.635938	0.45252	0	0.691587	0.68394	0	.	.	5.66	5.66	0.87293	6.377000	0.73077	7.917000	0.74325	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.750000	0.35786	0.0:0.0:0.0:1.0	13.258	0.59521	568	0.70638	.;.;.;.	.	.	.	.	rs181908306	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1659.98	33	chr1	19344367	.	T	C	1659.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.780e-01;DP=848;ExcessHet=0.0000;FS=7.465;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.61;ReadPosRankSum=-1.141e+00;SOR=1.085	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1174	20	0	1	0
chr1	19755716	19755716	G	A	exonic	TMCO4	.	nonsynonymous SNV	TMCO4:NM_001349112:exon6:c.C433T:p.L145F	.	.	434	1082	6	0	0	6	0.00276498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.046	B	0.04	B	0.003	N	0.995	D	1.435	L	0.0	T	-0.965	T	0.127	T	0.306	1.907	12.33	2.5	0.243	2.470	8.900	0.094	0.0184906698955	0.0038	0.00239617	0.0039	0.0012	0.0055	0.0002	0.0029	0.0056	0.0044	0.0002	0.0040232	622	154602	rs144542419	0.0054	0.0054	0.0055	0.0052	0.0064	0.0053	0.0052	0.0061	0.0061	0.0011	0.0064	0.0052	0	0.0024	0.0026	0.0062	0.0051	0.0002	0.0044	0.0044	0.0045	0.0043	0.0077	0.0041	0.0040	0.0066	0.0062	0.0013	0	0.0077	0.0037	0	0.0026	0	0.0065	0.0062	0.0004	0.109	0.29288	T	0.175	0.29945	T	0.015	0.17086	B	0.018	0.18489	B	0.003333	0.35096	N	0.243821	0.984124	0.42423	D	1.825	0.47900	L	-0.07	0.63738	T	-2.52	0.57275	D	0.377	0.41853	-0.9650	0.38210	T	0.127	0.43360	T	10	0.0045073926	0.00093	T	0.018491	0.40571	T	0.094	0.27141	.	.	0.290962096972	0.28708	0.7304976055889247	0.72994	0.112277597435	0.12667	0.343144237995	0.16909	T	0.057648	0.30625	T	-0.39627	0.02449	T	-0.336864	0.40700	T	0.0209411064082096	0.00795	T	0.711229	0.32236	T	0.06256745	0.13083	0.08191611	0.18655	0.06256745	0.13083	0.08191611	0.18655	-8.86	0.66791	D	.	.	0.081	0.08224	B	.;.	.;.	1.818182	0.23107	15.89	0.99237275745013054	0.56437	0.82177	0.41445	D	AEFBI	0.171744	0.29873	N	-0.328821440249475	0.28058	1.544461	-0.237948022738432	0.30188	1.697614	0.556551298473233	0.21378	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.45	2.5	0.29355	2.853000	0.48016	4.938000	0.46187	-0.136000	0.12710	1.000000	0.71638	1.000000	0.68203	0.657000	0.32885	0.2477:0.0:0.7523:0.0	8.900	0.34647	719	0.55657	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1443.98	35	chr1	19755716	.	G	A	1443.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.840e+00;DP=821;ExcessHet=0.0000;FS=1.491;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=0.882;SOR=0.522	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr1	19975708	19975708	C	T	exonic	PLA2G2A	.	nonsynonymous SNV	PLA2G2A:NM_001161728:exon5:c.G428A:p.R143H	.	.	420	1097	5	0	0	5	0.00227376	.	.	3191775	PLA2G2A-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.03	D	0.778	P	0.102	B	0.252	N	1.000	N	1.245	L	2.77	T	-0.972	T	0.013	T	0.205	2.111	13.02	-2.6	-0.292	-1.528	4.749	0.030	0.00703948382991	0.0042	0.00199681	0.0048	0.0011	0.0023	0.0005	0.0015	0.0069	0.0066	0.0036	0.0048382	748	154602	rs34568801	0.0068	0.0069	0.0070	0.0067	0.0080	0.0067	0.0067	0.0079	0.0078	0.0013	0.0029	0.0013	2.519e-05	0.0014	0.0021	0.0080	0.0062	0.0045	0.0043	0.0043	0.0048	0.0037	0.0073	0.0040	0.0039	0.0067	0.0065	0.0015	0.0121	0.0030	0.0012	0	0.0011	0	0.0073	0.0047	0.0029	0.014	0.53172	D	0.135	0.34124	T	0.778	0.44187	P	0.102	0.30857	B	0.251568	0.03650	N	1.784340	1	0.08975	N	2.215	0.62545	M	2.77	0.11407	T	-1.26	0.31778	N	0.104	0.08786	-0.9724	0.36691	T	0.013	0.05129	T	10	0.008064479	0.00183	T	0.007039	0.18649	T	0.030	0.07022	.	.	0.247872288689	0.24386	0.19463051942717013	0.19381	0.730722266612	0.62720	0.217403098941	0.01165	T	0.128146	0.45563	T	-0.627596	0.00099	T	-0.66488	0.07941	T	0.0116120675521292	0.00177	T	0.521048	0.16963	T	0.26416773	0.49483	0.16486873	0.38170	0.27400124	0.50467	0.12765543	0.30724	-6.366	0.49244	T	.	.	0.110	0.21277	B	.;.;.	.;.;.	0.778136	0.11484	8.085	0.91791289719861457	0.21096	0.05516	0.11406	N	AEFDBCI	0.529113	0.55036	D	-0.945954108651652	0.09784	0.4645768	-1.09235456135776	0.07850	0.3835148	0.999799721938068	0.43153	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.2	-2.6	0.05830	-2.448000	0.01085	-12.693000	0.00507	-0.323000	0.05837	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.2798:0.2943:0.4259	4.749	0.12427	878	0.29785	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	956.98	34	chr1	19975708	.	C	T	956.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=776;ExcessHet=0.0000;FS=0.924;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.28;ReadPosRankSum=-1.116e+00;SOR=0.859	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1152	20	0	1	0
chr1	20323486	20323486	T	C	exonic	VWA5B1	.	nonsynonymous SNV	VWA5B1:NM_001039500:exon8:c.T1097C:p.I366T	.	.	426	1058	38	0	0	38	0.0176416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.983	D	0.136	N	0.978	D	3.02	M	2.27	T	-0.768	T	0.151	T	0.803	4.192	21.7	5.44	2.059	7.292	14.306	0.279	.	0.0007	0.00299521	0.0070	0	0.0054	0	0	0.0015	0.0045	0.0195	0.0011319	175	154602	rs201370343	0.0013	0.0013	0.0009	0.0018	0.0155	0.0013	0.0013	0.0147	0.0144	0.0002	0.0006	0.0018	2.981e-05	2.044e-05	0.0092	0.0004	0.0019	0.0155	0.0009	0.0009	0.0004	0.0013	0.0162	0.0008	0.0007	0.0133	0.0122	4.813e-05	0	0.0012	0.0020	0	9.413e-05	0.0102	0.0004	0	0.0162	0.004	0.65419	D	0.003	0.76473	D	0.998	0.73220	D	0.983	0.75793	D	0.136158	0.18456	N	0.577246	0.977751	0.39397	D	3.495	0.92709	M	2.27	0.17431	T	-3.65	0.69950	D	0.831	0.83371	-0.7681	0.56962	T	0.151	0.47909	T	10	0.017407864	0.00371	T	.	.	.	0.279	0.59619	.	.	0.194818534648	0.19098	0.6890989978460175	0.68849	.	.	0.417895138264	0.27547	T	0.207884	0.56765	T	-0.243124	0.14954	T	-0.109033	0.62689	T	0.119954450924033	0.14425	T	0.884312	0.60710	D	0.43381843	0.63001	0.47718886	0.69710	0.43381843	0.63002	0.47718886	0.69711	-10.769	0.78471	D	.	.	0.221	0.48664	B	.;.	.;.	4.562828	0.71921	25.7	0.99806278955853256	0.89085	0.96560	0.69751	D	AEFDBHCIJ	0.834283	0.75235	D	0.596985983387991	0.72985	5.892872	0.541148797261749	0.70784	5.556301	0.999999999999452	0.74766	0.608966	0.35542	0	0.681609	0.65952	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.44	5.44	0.79348	7.273000	0.77921	7.906000	0.73790	0.665000	0.62972	0.972000	0.34453	0.994000	0.32194	0.983000	0.59808	0.0:0.0:0.0:1.0	14.306	0.65941	917	0.20147	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3395.11	35	chr1	20323486	.	T	C	3395.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.263;DP=1069;ExcessHet=0.1072;FS=2.092;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=0.150;SOR=0.839	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	19	0	2	0
chr1	20343196	20343196	G	A	exonic	VWA5B1	.	nonsynonymous SNV	VWA5B1:NM_001039500:exon16:c.G2429A:p.G810D	.	.	425	1089	8	0	0	8	0.00365965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.235	B	0.144	B	0.014	U	1.000	D	0.805	L	2.7	T	-1.055	T	0.030	T	0.452	1.938	12.44	3.89	1.712	8.038	14.496	0.164	.	.	0.00339457	0.0062	0.0033	0	0	0	0.0008	0	0.0105	0.0007438	115	154602	rs574725504	0.0007	0.0007	0.0005	0.0009	0.0086	0.0007	0.0006	0.0081	0.0078	6.332e-05	0.0004	0	0	4.186e-05	0.0023	0.0002	0.0011	0.0086	0.0007	0.0007	0.0006	0.0008	0.0120	0.0006	0.0006	0.0096	0.0087	9.65e-05	0	0.0012	0	0	0	0	0.0004	0.0005	0.0120	0.185	0.21801	T	0.144	0.33109	T	0.026	0.30743	B	0.02	0.33818	B	0.014458	0.28529	U	0.320691	0.876946	0.35673	D	2.36	0.67893	M	2.7	0.12162	T	-1.48	0.36189	N	0.399	0.43995	-1.0549	0.13066	T	0.030	0.12717	T	10	0.008074075	0.00183	T	.	.	.	0.164	0.42212	.	.	0.0611884634855	0.05136	0.7872900127252621	0.78681	.	.	0.855669617653	0.90467	D	0.012853	0.11224	T	-0.419543	0.01722	T	-0.370012	0.36887	T	0.0753306984964005	0.09380	T	0.776522	0.40874	T	0.21662864	0.44125	0.379327	0.62990	0.21662864	0.44125	0.379327	0.62990	-8.43	0.64137	D	.	.	0.861	0.82911	P	.;.	.;.	3.419368	0.47472	22.5	0.98498831594504543	0.42192	0.97040	0.72342	D	AEFDBHCI	0.902380	0.85021	D	-0.173117746772343	0.34257	1.953157	-0.0682288141098925	0.36712	2.140011	0.999998942652035	0.74766	0.437478	0.07067	0	0.578056	0.33634	0	0.606814	0.37721	0	0.562822	0.20929	0	.	.	3.89	3.89	0.44098	7.774000	0.84234	11.270000	0.91373	0.560000	0.28382	1.000000	0.71638	1.000000	0.68203	0.424000	0.27317	0.0:0.0:1.0:0.0	14.496	0.67267	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1855.98	40	chr1	20343196	.	G	A	1855.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.380e-01;DP=875;ExcessHet=0.0000;FS=1.230;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=-8.900e-02;SOR=0.707	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr1	20723708	20723708	G	A	exonic	SH2D5	.	nonsynonymous SNV	SH2D5:NM_001103160:exon7:c.C574T:p.R192W	.	.	428	1085	8	1	0	10	0.00458716	.	.	2320644	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.001	B	0.0	B	0.774	N	1.000	N	1.39	L	-0.09	T	-0.900	T	0.179	T	0.138	1.999	12.64	3.26	0.742	0.799	7.287	0.092	0.0256937372941	.	0.000399361	0.0001	0.0004	9.104e-05	0	0	0.0001	0.0013	6.331e-05	0.00011	17	154602	rs184773097	7.599e-05	7.661e-05	6.267e-05	8.945e-05	0.0017	6.429e-05	6.009e-05	0.0009	0.0007	0.0001	0.0001	0	0	0	0.0017	6.565e-05	0.0002	0.0001	0.0001	0.0001	0.0002	0.0001	0.0004	9.738e-05	8.253e-05	0.0003	0.0002	0.0004	0	6.534e-05	0	0	0	0.0034	4.41e-05	0	0	0.049	0.40319	D	0.004	0.76473	D	0.001	0.07471	B	0.0	0.01387	B	0.774152	0.09523	N	0.889887	1	0.08975	N	0.41	0.12415	N	-0.09	0.64086	T	-2.14	0.51478	N	0.192	0.23506	-0.9001	0.47983	T	0.179	0.52443	T	10	0.04716286	0.03998	T	0.025694	0.48656	D	0.092	0.26621	.	.	0.664261364525	0.66144	0.4127030852322649	0.41186	0.108086438741	0.12188	0.416991829872	0.27424	T	0.036275	0.24042	T	-0.379275	0.03149	T	-0.464506	0.26111	T	0.0171797717358758	0.00462	T	0.822518	0.48242	T	0.10921425	0.25821	0.09814666	0.23389	0.10921425	0.25821	0.09814666	0.23389	-4.674	0.33088	T	.	.	0.082	0.08948	B	.;.	.;.	2.451651	0.31569	18.78	0.99672656796190162	0.78717	0.08645	0.14545	N	AEFDBI	0.185480	0.31280	N	-0.625934922335048	0.18168	0.9410725	-0.610988096666351	0.19210	1.029701	0.999994367012376	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	5.15	3.26	0.36471	1.344000	0.33547	0.939000	0.22838	0.676000	0.76740	0.287000	0.25205	0.001000	0.17328	0.806000	0.37994	0.0904:0.1678:0.7418:0.0	7.287	0.25522	843	0.36859	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1199.98	34	chr1	20723708	.	G	A	1199.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=807;ExcessHet=0.0000;FS=1.485;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.26;ReadPosRankSum=0.732;SOR=0.828	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1171	20	0	1	0
chr1	20941650	20941650	T	C	exonic	EIF4G3	.	nonsynonymous SNV	EIF4G3:NM_003760:exon9:c.A1336G:p.I446V	.	.	420	1075	25	2	0	29	0.0133089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.01	B	0.009	B	0.099	N	0.999	N	0	N	2.07	T	-1.019	T	0.017	T	0.073	-0.647	1.149	-0.899	0.130	0.496	0.383	0.037	.	0.0011	0.00319489	0.0025	0.0002	8.64e-05	0	0.0002	0.0011	0	0.0142	0.0022574	349	154602	rs141254078	0.0015	0.0015	0.0011	0.0020	0.0143	0.0015	0.0015	0.0137	0.0134	0.0002	0.0002	0.0001	2.519e-05	7.488e-05	0.0071	0.0008	0.0015	0.0143	0.0012	0.0012	0.0010	0.0014	0.0182	0.0010	0.0010	0.0152	0.0140	0.0001	0	0.0002	0	0	0	0.0136	0.0012	0.0005	0.0182	0.37	0.11550	T	0.657	0.07617	T	0.001	0.07471	B	0.009	0.14300	B	0.098616	0.19972	N	0.568044	0.998948	0.45735	D	0	0.06538	N	2.07	0.20387	T	0.28	0.04233	N	0.044	0.03069	-1.0187	0.24139	T	0.017	0.07045	T	10	0.0032545626	0.00056	T	.	.	.	0.037	0.09474	.	.	0.179529687257	0.17594	0.0927177310028373	0.09203	0.120064589103	0.13520	0.295090973377	0.09671	T	0.019541	0.15549	T	-0.645134	0.00078	T	-0.68779	0.06517	T	0.0143492687051511	0.00287	T	0.560444	0.22396	T	0.013733779	0.00068	0.021160658	0.00177	0.013733779	0.00068	0.021160658	0.00177	-2.383	0.06489	T	.	.	0.060	0.01934	B	.;.;.;.;.	.;.;.;.;.	0.890678	0.12639	9.166	0.55373431277798246	0.05329	0.63940	0.32247	D	AEFGBI	0.081120	0.16412	N	-0.732462532457361	0.15114	0.7588709	-0.602388170348881	0.19431	1.042507	2.90097384826224E-4	0.06355	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	6.02	-0.899	0.10012	0.509000	0.22414	-1.154000	0.06172	0.665000	0.62972	0.998000	0.41325	0.001000	0.17328	0.952000	0.50033	0.2543:0.1642:0.2931:0.2884	0.383	0.00371	686	0.59327	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3861.11	34	chr1	20941650	.	T	C	3861.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-6.830e-01;DP=995;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=0.521;SOR=0.680	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1423	19	0	2	0
chr1	21626348	21626348	G	A	exonic	RAP1GAP	.	stopgain	RAP1GAP:NM_001145658:exon3:c.C130T:p.R44X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	.	.	.	.	0.744	N	1.000	N	.	.	.	.	.	.	.	.	.	6.926	38	3.12	0.506	1.137	6.197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs771440409	2.054e-06	2.052e-06	1.362e-06	2.752e-06	2.989e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	2.989e-05	0	0	0	0	0	1.8e-06	0	0	6.573e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.743932	0.06444	N	1.194630	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.627	0.64137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35774	0.87080	D	0.276092	0.86912	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.899706	0.24129	16.28	0.99820891255720179	0.90414	0.06215	0.12202	N	AEFBI	0.131067	0.24986	N	0.267501474334186	0.54509	3.616322	-0.0193044531143741	0.38844	2.294375	0.999918858539854	0.45857	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.586402	0.36253	0	.	.	5.01	3.12	0.34986	1.121000	0.30897	3.176000	0.36634	0.676000	0.76740	0.004000	0.16614	0.381000	0.24616	0.968000	0.53726	0.0955:0.0:0.7205:0.184	6.197	0.19769	743	0.52768	.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1203.98	35	chr1	21626348	.	G	A	1203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.898;DP=790;ExcessHet=0.0000;FS=1.747;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=0.625;SOR=0.791	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1192	20	0	1	0
chr1	21649771	21649771	G	A	exonic	RAP1GAP	.	nonsynonymous SNV	RAP1GAP:NM_001145658:exon2:c.C70T:p.R24W,	.	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	.	.	.	.	0.001	U	1.000	D	0	N	1.49	T	-0.580	T	0.467	T	0.192	2.399	13.98	1.17	0.143	1.393	4.890	0.102	.	0.0001	0.00199681	0.0026	0.0005	0	0	0	0	0	0.0066	0.000511	79	154602	rs372126308	0.0005	0.0005	0.0003	0.0007	0.0078	0.0004	0.0004	0.0073	0.0071	0.0001	8.389e-05	0	8.392e-05	0	0.0004	1.667e-05	0.0004	0.0078	0.0003	0.0003	0.0002	0.0004	0.0075	0.0002	0.0002	0.0055	0.0049	4.817e-05	0	6.545e-05	0	0.0002	0	0	1.471e-05	0.0005	0.0075	.	.	.	0.043	0.49942	D	.	.	.	.	.	.	0.001482	0.00791	U	4.758310	0.999999	0.58761	D	.	.	.	.	.	.	.	.	.	0.429	0.46835	-0.5799	0.65621	T	0.467	0.79427	T	8	0.00734967	0.00167	T	.	.	.	.	.	.	.	0.043077524339	0.03247	.	.	.	.	0.48719805479	0.37051	T	.	.	.	-0.452305	0.01095	T	-0.418755	0.31219	T	0.0663841239476688	0.08134	T	0.623338	0.24021	T	.	.	.	.	.	.	.	.	-5.189	0.38830	T	.	.	0.104	0.18705	B	.	.	2.236522	0.28556	17.84	0.9955163241877435	0.71211	0.77258	0.37966	D	AEFBI	0.511086	0.53986	D	-0.188058547191386	0.33630	1.910178	-0.141975891657636	0.33718	1.931721	0.990248088793122	0.32087	0.676563	0.55306	0	0.627178	0.54094	0	0.673471	0.61138	0	0.616125	0.45549	0	.	.	4.31	1.17	0.19998	1.408000	0.34277	1.194000	0.24787	0.676000	0.76740	0.999000	0.42656	0.001000	0.17328	0.850000	0.40195	0.1034:0.0:0.5232:0.3734	4.890	0.13079	771	0.49057	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2211.98	38	chr1	21649771	.	G	A	2211.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.19;DP=871;ExcessHet=0.0000;FS=1.977;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=0.899;SOR=0.885	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1312	20	0	1	0
chr1	21814421	21814421	C	A	exonic	LDLRAD2	.	nonsynonymous SNV	LDLRAD2:NM_001013693:exon2:c.C109A:p.Q37K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.91	T	0.437	B	0.079	B	0.477	N	0.737	D	1.15	L	0.74	T	-1.004	T	0.086	T	0.269	2.885	15.61	4.28	2.227	6.243	14.235	0.152	0.111870532108	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1166862685	6.876e-07	6.84e-07	0	1.384e-06	9.021e-07	0	0	.	.	0	0	0	0	0	0	9.021e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.449	0.09022	T	0.073	0.43159	T	0.437	0.35811	B	0.079	0.28749	B	0.476517	0.12215	N	0.682462	0.73733	0.33784	D	1.795	0.47270	L	0.74	0.50459	T	-1.42	0.34992	N	0.409	0.44952	-1.0039	0.28785	T	0.086	0.33298	T	10	0.23767626	0.40873	T	0.111871	0.78982	D	0.152	0.39956	0.376	0.38994	0.392239652056	0.38839	0.6201980368398858	0.61952	0.503364777293	0.48666	0.508346378803	0.39991	T	0.039498	0.25209	T	-0.120692	0.33010	T	-0.411142	0.32093	T	0.706746280193329	0.41042	D	0.59644	0.22167	T	0.26132867	0.49192	0.17755143	0.40365	0.26132867	0.49192	0.17755143	0.40364	-7.137	0.55028	T	.	.	0.106	0.19958	B	.;.	.;.	3.794748	0.54638	23.5	0.97624729713190661	0.34983	0.94658	0.61888	D	ALL	0.712205	0.66540	D	-0.205603318420386	0.32904	1.860805	-0.101296424689742	0.35339	2.043303	0.999999999999976	0.74766	0.455138	0.09556	0	0.552344	0.17405	0	0.166054	0.03999	2	0.56751	0.32155	0	.	.	4.28	4.28	0.50183	6.309000	0.72791	2.921000	0.35563	0.533000	0.24879	1.000000	0.71638	0.758000	0.26602	0.966000	0.53164	0.0:1.0:0.0:0.0	14.235	0.65468	862	0.33134	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	500.98	33	chr1	21814421	.	C	A	500.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.900e-01;DP=826;ExcessHet=0.0000;FS=2.450;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.45;ReadPosRankSum=-2.122e+00;SOR=1.154	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,107,1163	20	0	1	0
chr1	21815996	21815996	C	T	exonic	LDLRAD2	.	nonsynonymous SNV	LDLRAD2:NM_001013693:exon3:c.C565T:p.L189F,	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	1.0	D	0.999	D	0.011	N	0.999	D	1.13	L	-3.83	D	0.822	D	0.869	D	0.625	4.648	25.5	5.07	2.371	3.430	15.940	0.584	0.243663953375	.	.	0.0001	0	0	0	0	1.502e-05	0	0.0008	9.06e-05	14	154602	rs777517377	8.757e-05	8.756e-05	7.76e-05	9.765e-05	0.0006	7.489e-05	7.036e-05	0.0005	0.0005	0	0	0	0	0	0	6.475e-05	0	0.0006	5.256e-05	5.253e-05	5.138e-05	5.379e-05	0.0006	2.557e-05	1.83e-05	0.0002	8.996e-05	2.412e-05	0	0	0	0	0	0	5.879e-05	0	0.0006	0.008	0.58626	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.010853	0.29760	N	0.133080	0.999201	0.46326	D	0.91	0.23283	L	-3.83	0.95794	D	-3.62	0.69593	D	0.691	0.69649	0.822	0.94685	D	0.869	0.95657	D	10	0.662436	0.70232	D	0.243664	0.88812	D	0.584	0.83305	.	.	0.823997167059	0.82232	0.404867559417125	0.40402	1.12549069196	0.78439	0.556060671806	0.46712	T	0.595806	0.86973	D	-0.0458532	0.45074	T	0.0674441	0.74739	D	0.587179243564606	0.35895	D	0.772923	0.40417	T	0.3295802	0.55436	0.3582099	0.61301	0.3295802	0.55436	0.3582099	0.61300	-11.108	0.80247	D	.	.	0.518	0.65439	A	.;.	.;.	4.116880	0.61501	24.3	0.99896815728012323	0.96971	0.81218	0.40668	D	ALL	0.504135	0.53582	D	0.471589225110718	0.65439	4.822536	0.47431050882098	0.66292	4.933192	1.0	0.98316	0.514905	0.20481	0	0.547309	0.14657	0	0.603688	0.36954	0	0.466023	0.07079	0	.	.	5.07	5.07	0.68106	3.443000	0.52671	2.260000	0.31754	0.566000	0.28629	1.000000	0.71638	1.000000	0.68203	0.816000	0.38450	0.0:1.0:0.0:0.0	15.940	0.79533	862	0.33134	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2092.98	33	chr1	21815996	.	C	T	2092.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.468;DP=781;ExcessHet=0.0000;FS=1.561;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.12;ReadPosRankSum=1.82;SOR=0.546	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1133	20	0	1	0
chr1	21815997	21815997	T	C	exonic	LDLRAD2	.	nonsynonymous SNV	LDLRAD2:NM_001013693:exon3:c.T566C:p.L189P,	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	1.0	D	1.0	D	0.011	N	1.000	D	2.935	M	-3.88	D	1.024	D	0.926	D	0.936	4.136	21.4	5.07	1.921	6.245	12.782	0.874	0.751687017201	.	.	0.0001	0	0	0	0	1.502e-05	0	0.0008	9.06e-05	14	154602	rs749119806	4.037e-05	4.036e-05	1.906e-05	6.189e-05	0.0006	3.179e-05	2.911e-05	0.0005	0.0005	0	0	0	0	0	0	2.698e-06	0	0.0006	1.972e-05	1.97e-05	0	4.035e-05	0.0006	5.24e-06	2.45e-06	0.0002	9e-05	0	0	0	0	0	0	0	0	0	0.0006	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.010853	0.29760	N	0.133080	1	0.81001	D	2.7	0.79018	M	-3.88	0.95953	D	-6.12	0.90060	D	0.902	0.90251	1.024	0.97612	D	0.926	0.97551	D	10	0.89245737	0.88591	D	0.751687	0.98021	D	0.874	0.96243	0.681	0.81885	0.828546122127	0.82692	0.8338914825408209	0.83348	1.39057706076	0.84979	0.65325319767	0.60448	T	0.772768	0.93931	D	0.247869	0.78402	D	0.489356	0.94389	D	0.790953814983368	0.45752	D	0.786621	0.42528	T	0.823486	0.85456	0.8175054	0.89379	0.823486	0.85457	0.8175054	0.89379	-15.315	0.96548	D	.	.	0.854	0.79975	P	.;.	.;.	4.742968	0.76508	26.5	0.99903407099567165	0.97502	0.88256	0.48102	D	ALL	0.882768	0.81114	D	0.721733896458415	0.81057	7.433976	0.651954064785729	0.78754	6.940824	0.999999999999997	0.74766	0.514905	0.20481	0	0.547309	0.14657	0	0.603688	0.36954	0	0.466023	0.07079	0	.	.	5.07	5.07	0.68106	6.178000	0.71900	5.522000	0.48825	0.628000	0.51840	1.000000	0.71638	1.000000	0.68203	0.844000	0.39860	0.0:0.0:0.0:1.0	12.782	0.56859	862	0.33134	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2092.98	33	chr1	21815997	.	T	C	2092.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.220e-01;DP=782;ExcessHet=0.0000;FS=1.561;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.12;ReadPosRankSum=1.69;SOR=0.546	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1133	20	0	1	0
chr1	21865797	21865797	C	T	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon34:c.G4237A:p.G1413S	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	194067	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.002	N	1.000	D	3.46	M	0.56	T	0.085	D	0.444	T	0.874	3.852	19.57	4.96	2.579	4.285	15.726	0.538	0.0440045860523	7.7e-05	0.000399361	0.0001	0.0006	0	0	0	7.516e-05	0.0011	0.0003	0.0001294	20	154602	rs146184130	6.911e-05	6.909e-05	6.264e-05	7.565e-05	0.0006	5.781e-05	5.393e-05	0.0004	0.0003	0.0006	0	0	5.038e-05	1.884e-05	0.0005	4.497e-05	9.937e-05	0.0002	0.0001	0.0001	0.0002	0.0001	0.0005	8.664e-05	7.256e-05	0.0003	0.0002	0.0005	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.001845	0.37840	N	0.000000	0.999993	0.58761	D	3.145	0.88303	M	0.56	0.54540	T	-5.3	0.84387	D	0.641	0.65330	0.085	0.83899	D	0.444	0.78100	T	10	0.5821164	0.65907	D	0.044005	0.61272	D	0.538	0.80664	.	.	0.544652427739	0.54119	0.6690304417805694	0.66841	0.283419385945	0.30787	0.549377143383	0.45769	T	0.39257	0.75220	T	0.0185044	0.54180	T	0.146288	0.79950	D	0.298339540131351	0.24935	T	0.777122	0.65471	T	0.74496347	0.80577	0.74197656	0.84748	0.74496347	0.80579	0.74197656	0.84749	-11.242	0.80968	D	.	.	0.376	0.58191	A	.;.	.;.	3.673083	0.52245	23.2	0.99846418238267398	0.92663	0.90287	0.51344	D	AEFGBHCI	0.692618	0.65222	D	0.668207086893226	0.77553	6.69662	0.538612069329181	0.70608	5.530407	0.999999999999991	0.74766	0.67177	0.52595	0	0.518115	0.08659	0	0.601644	0.32324	0	0.711	0.71501	0	.	.	4.96	4.96	0.65153	4.447000	0.59762	7.664000	0.64404	-0.230000	0.07744	1.000000	0.71638	1.000000	0.68203	0.017000	0.10941	0.0:1.0:0.0:0.0	15.726	0.77524	811	0.42639	Laminin IV|Laminin IV|Laminin IV;Laminin IV|Laminin IV	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1536.98	35	chr1	21865797	.	C	T	1536.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.293;DP=864;ExcessHet=0.0000;FS=2.196;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.39;ReadPosRankSum=-1.153e+00;SOR=0.924	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr1	21873038	21873038	C	T	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon31:c.G3850A:p.V1284I	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	609389	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.9	T	0.004	B	0.003	B	0.380	N	1.000	N	0.17	N	0.55	T	-1.018	T	0.034	T	0.097	0.482	6.616	-4.75	-0.892	-3.416	7.024	0.012	.	0.0044	0.00399361	0.0013	0.0139	0.0010	0.0006	0	6.184e-05	0	0	0.0012678	196	154602	rs62642527	0.0004	0.0004	0.0005	0.0004	0.0135	0.0004	0.0004	0.0124	0.0120	0.0135	0.0008	0	0.0003	0	0.0017	5.126e-05	0.0009	9.275e-05	0.0037	0.0037	0.0036	0.0038	0.0126	0.0034	0.0033	0.0117	0.0114	0.0126	0	0.0012	0	0.0010	0	0	0.0001	0.0028	0	1.0	0.00964	T	0.722	0.05309	T	0.004	0.12183	B	0.003	0.08700	B	0.379993	0.04414	N	1.555340	0.999995	0.08975	N	0.54	0.13725	N	0.55	0.54728	T	0.07	0.06138	N	0.071	0.04426	-1.0177	0.24463	T	0.034	0.14726	T	10	0.0060321987	0.00135	T	.	.	.	0.012	0.01476	.	.	0.119812018005	0.11559	0.08481903745261421	0.08415	0.163701473384	0.18462	0.232525140047	0.02160	T	0.086158	0.37663	T	-0.617561	0.00114	T	-0.648829	0.09036	T	0.0056086286976912	0.00061	T	0.486451	0.14861	T	0.016558224	0.00206	0.02467474	0.00492	0.013549697	0.00062	0.02046422	0.00137	-5.65	0.43246	T	.	.	0.059	0.00806	B	.	.	-2.616346	0.00024	0.001	0.78487433657432737	0.12322	0.07666	0.13672	N	AEFBCI	0.042216	0.06523	N	-1.60844066947331	0.01223	0.05317591	-1.61698420533084	0.01555	0.07048592	0.999191229830803	0.38711	0.67177	0.52595	0	0.588066	0.40923	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.98	-4.75	0.03003	-4.117000	0.00330	-15.654000	0.00347	-1.641000	0.00840	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.0:0.3489:0.1186:0.5325	7.024	0.24105	799	0.44747	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2524.98	62	chr1	21873038	.	C	T	2524.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.35;DP=1256;ExcessHet=0.0000;FS=1.071;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.20;ReadPosRankSum=-1.342e+00;SOR=0.790	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,114,1710	20	0	1	0
chr1	21874729	21874729	C	T	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon27:c.G3418A:p.D1140N	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.982	D	0.808	P	0.123	N	0.998	D	2.01	M	0.12	T	-0.468	T	0.299	T	0.074	4.288	22.4	4.02	2.352	3.588	13.706	0.199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259362416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.04	0.50809	D	0.982	0.60036	D	0.808	0.58514	P	0.123177	0.18928	N	0.385573	0.998272	0.44710	D	1.475	0.37068	L	0.12	0.61089	T	-3.48	0.67941	D	0.284	0.32148	-0.4679	0.69798	T	0.299	0.67045	T	10	0.47364607	0.60013	T	0.107763	0.78399	D	0.199	0.48268	0.144	0.04746	0.624238668723	0.62118	0.2701986166004367	0.26932	0.584731077447	0.54139	0.713496685028	0.69100	T	0.358721	0.72523	T	-0.166639	0.25744	T	-0.477142	0.24752	T	0.967730939388275	0.68007	D	0.960204	0.84976	D	0.31836805	0.54501	0.2566209	0.51364	0.31836805	0.54501	0.2566209	0.51364	-9.027	0.67871	D	.	.	0.118	0.24020	B	.	.	4.337924	0.66520	25.0	0.99905770846007369	0.97651	0.91849	0.54396	D	AEFBCI	0.639474	0.61752	D	0.545220801998794	0.69791	5.407503	0.521943665391774	0.69470	5.364831	0.998871002090167	0.37868	0.67177	0.52595	0	0.610034	0.51514	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.03	4.02	0.45968	3.646000	0.54137	3.295000	0.37336	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.165:0.835:0.0:0.0	13.706	0.62121	799	0.44747	Laminin EGF domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	822.98	34	chr1	21874729	.	C	T	822.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.418;DP=737;ExcessHet=0.0000;FS=1.259;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.59;ReadPosRankSum=0.053;SOR=0.997	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1116	20	0	1	0
chr1	21879108	21879108	T	C	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon18:c.A2360G:p.N787S	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	.	0	1509	12	1	0	14	0.00461741	.	.	205727	Schwartz-Jampel_syndrome|Lethal_Kniest-like_syndrome|Connective_tissue_disorder|not_provided	MONDO:MONDO:0009717,MedGen:C0036391,Orphanet:800|MONDO:MONDO:0009140,MedGen:C1857100,OMIM:224410,Orphanet:1865|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.999	D	0.992	D	0.001	D	0.745	N	3.075	M	-0.22	T	-0.151	T	0.420	T	0.124	3.669	18.65	4.08	0.811	5.239	9.359	0.375	.	0.0065	0.00179712	0.0067	0.0012	0.0020	0	0.0157	0.0095	0.0088	0.0017	0.0063324	979	154602	rs143736974	0.0070	0.0070	0.0070	0.0071	0.0076	0.0069	0.0069	0.0074	0.0074	0.0008	0.0023	0.0077	2.519e-05	0.0159	0.0024	0.0076	0.0068	0.0029	0.0061	0.0061	0.0060	0.0061	0.0087	0.0057	0.0056	0.0081	0.0079	0.0013	0	0.0046	0.0086	0.0002	0.0149	0.0034	0.0087	0.0057	0.0019	0.252	0.17014	T	0.018	0.59732	D	0.999	0.77913	D	0.992	0.80445	D	0.000738	0.42129	D	0.000000	0.745274	0.29693	N	2.905	0.84014	M	-0.22	0.66474	T	-2.78	0.58896	D	0.507	0.53884	-0.1510	0.78892	T	0.420	0.76550	T	10	0.012245119	0.00264	T	.	.	.	0.375	0.69358	.	.	0.609643014007	0.60650	0.27630792947456645	0.27543	0.183394758228	0.20629	0.496132850647	0.38290	T	0.314263	0.68595	T	-0.425831	0.01571	T	-0.375058	0.36300	T	0.0574038816292067	0.06754	T	0.894311	0.63332	D	0.48040593	0.65925	0.4265307	0.66427	0.48040593	0.65925	0.4265307	0.66427	-9.241	0.69235	D	.	.	0.198	0.42067	B	.	.	4.341864	0.66620	25.0	0.99827877460282632	0.91026	0.91085	0.52830	D	AEFBCI	0.660999	0.63137	D	0.647559683825149	0.76212	6.444776	0.558657061133332	0.72004	5.741643	0.999963396408416	0.48965	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.22	4.08	0.46880	5.187000	0.64925	6.169000	0.54460	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.0:0.086:0.0:0.914	9.359	0.37349	796	0.45353	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain	.	.	.	.	rs143736974	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	438.98	38	chr1	21879108	.	T	C	438.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=807;ExcessHet=0.0000;FS=1.190;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.61;ReadPosRankSum=1.37;SOR=0.916	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,100,1332	20	0	1	0
chr1	21880695	21880695	T	G	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon15:c.A1962C:p.Q654H	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	.	1	1520	1	0	0	1	0.000328839	.	.	609392	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.27	T	0.0	B	0.002	B	0.141	N	1.000	N	0.745	N	1.29	T	-1.081	T	0.026	T	0.107	-0.757	0.797	-6.99	-1.006	-0.701	2.109	0.122	.	0.0029	0.00279553	0.0015	0.0155	0.0009	0	0	5.85e-05	0	0	0.0009314	144	154602	rs62642535	0.0003	0.0003	0.0004	0.0003	0.0115	0.0003	0.0003	0.0105	0.0102	0.0115	0.0007	0	0	0	0.0017	2.623e-05	0.0007	5.959e-05	0.0030	0.0030	0.0029	0.0031	0.0104	0.0028	0.0027	0.0095	0.0092	0.0104	0	0.0011	0	0	0	0	4.413e-05	0.0028	0	0.888	0.02495	T	0.746	0.04877	T	0.0	0.02946	B	0.002	0.06944	B	0.141148	0.18286	N	0.398508	0.999966	0.18878	N	0.55	0.14455	N	1.29	0.35775	T	0.15	0.05310	N	0.12	0.11054	-1.0808	0.07194	T	0.026	0.10998	T	10	0.0077708066	0.00177	T	.	.	.	0.122	0.33800	0.813	0.92857	0.130388298395	0.12655	0.4821848671589554	0.48138	0.192598309387	0.21586	0.484041035175	0.36613	T	0.115562	0.43424	T	-0.630253	0.00095	T	-0.667703	0.07756	T	0.00339269773489641	0.00036	T	0.60064	0.22426	T	0.08837348	0.20612	0.052607905	0.08700	0.08837348	0.20612	0.052607905	0.08700	-5.283	0.39774	T	.	.	0.128	0.27373	B	.	.	0.060910	0.04720	1.352	0.49926772551750087	0.04295	0.19946	0.20856	N	AEFDBCI	0.214750	0.34019	N	-1.26289642727497	0.04132	0.1859057	-1.29236457870621	0.04533	0.2140336	0.999919181878338	0.45857	0.67177	0.52595	0	0.633656	0.55848	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.64	-6.99	0.01449	-0.980000	0.03880	-3.076000	0.03082	-0.201000	0.08892	0.029000	0.20367	0.000000	0.08366	0.362000	0.25931	0.1982:0.3392:0.0873:0.3753	2.109	0.03474	785	0.46916	Laminin IV|Laminin IV|Laminin IV	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	845.98	86	chr1	21880695	.	T	G	845.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.622e+00;DP=1929;ExcessHet=0.0000;FS=0.874;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.13;ReadPosRankSum=0.826;SOR=0.527	GT:AD:DP:GQ:PL	0/0:89,0:89:99:0,120,1800	20	0	1	0
chr1	21887447	21887447	C	T	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon8:c.G931A:p.E311K	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	3166520	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.480	N	1.000	N	0.225	N	-3.69	D	-0.243	T	0.618	D	0.348	-1.072	0.170	-0.024	0.287	-0.928	8.236	0.352	0.0186821916866	.	.	8.265e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs200992640	8.893e-06	8.893e-06	9.53e-06	8.251e-06	1.079e-05	4.96e-06	3.82e-06	5.75e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	1.656e-05	0	6.57e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.806	0.03068	T	0.888	0.03152	T	0.0	0.02946	B	0.0	0.01387	B	0.480481	0.04978	N	1.376210	1	0.08975	N	-0.085	0.04774	N	-3.69	0.95317	D	0.28	0.04233	N	0.102	0.08506	-0.2433	0.76540	T	0.618	0.86535	D	10	0.054083526	0.05703	T	0.018682	0.40822	T	0.352	0.67326	0.491	0.57732	0.426084969639	0.42228	0.28324127350891165	0.28237	0.225619827505	0.25111	0.231754183769	0.02101	T	0.308387	0.68048	T	-0.0822328	0.39352	T	-0.18677	0.55893	T	0.0125637296587229	0.00209	T	0.788921	0.42853	T	0.04890592	0.08599	0.04576617	0.06232	0.04890592	0.08599	0.04576617	0.06231	-7.351	0.56558	T	.	.	0.060	0.00904	B	.	.	0.404490	0.07755	4.440	0.52620086053490323	0.04782	0.05690	0.11609	N	AEFDBCI	0.019896	0.00734	N	-1.36308495391848	0.02992	0.1329453	-1.29019578717665	0.04562	0.2154723	0.998196650023082	0.36560	0.67177	0.52595	0	0.633656	0.55848	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.09	-0.0238	0.13267	-0.780000	0.04759	-0.314000	0.10017	-0.167000	0.11441	0.000000	0.06391	0.000000	0.08366	0.572000	0.30699	0.0:0.3433:0.0:0.6567	8.236	0.30787	775	0.48401	Low-density lipoprotein (LDL) receptor class A, conserved site|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2400.98	35	chr1	21887447	.	C	T	2400.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=857;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.22;ReadPosRankSum=-1.097e+00;SOR=0.727	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1197	20	0	1	0
chr1	21887542	21887542	G	C	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon8:c.C836G:p.S279C	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.291	B	0.125	B	0.294	N	1.000	N	0	N	-1.07	T	-0.928	T	0.184	T	0.277	3.384	17.42	-4.2	-0.703	0.372	2.532	0.023	0.00708634771788	.	0.00119808	0.0004	0	8.646e-05	0	0	1.506e-05	0	0.0028	0.0003558	55	154602	rs543074067	0.0001	0.0001	7.896e-05	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	2.987e-05	0	0	0	0	0	2.698e-06	8.28e-05	0.0023	9.189e-05	9.185e-05	7.706e-05	0.0001	0.0027	5.522e-05	4.36e-05	0.0016	0.0013	0	0	6.532e-05	0	0	0	0	0	0	0.0027	0.095	0.31235	T	0.108	0.37589	T	0.291	0.32334	B	0.125	0.32635	B	0.294218	0.03913	N	1.705140	1	0.08975	N	0.69	0.16971	N	-1.07	0.76948	T	-1.69	0.40274	N	0.138	0.13626	-0.9285	0.44357	T	0.184	0.53331	T	10	0.0050875545	0.00110	T	0.007086	0.18786	T	0.231	0.53208	0.244	0.17830	0.345632371893	0.34166	0.5298467892543957	0.52908	0.238695002542	0.26421	0.3270650208	0.14491	T	0.338502	0.70776	T	-0.569033	0.00224	T	-0.595391	0.13202	T	0.0506783066247883	0.05619	T	0.306169	0.05876	T	0.07412419	0.16611	0.048909612	0.07364	0.07412419	0.16611	0.048909612	0.07364	-8.125	0.61919	D	.	.	0.161	0.35540	B	.	.	0.769024	0.11391	8.002	0.96533053344051234	0.30158	0.17447	0.19841	N	AEFDBHCI	0.078711	0.15886	N	-1.26382795244027	0.04120	0.1853376	-1.33679535882578	0.03964	0.1860092	0.999740697900443	0.42466	0.67177	0.52595	0	0.588066	0.40923	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.09	-4.2	0.03562	0.965000	0.28916	0.016000	0.13516	-0.120000	0.14102	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.4583:0.1124:0.3056:0.1237	2.532	0.04419	775	0.48401	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2384.98	35	chr1	21887542	.	G	C	2384.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=890;ExcessHet=0.0000;FS=1.485;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.71;ReadPosRankSum=0.607;SOR=0.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1197	20	0	1	0
chr1	21887543	21887543	A	T	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon8:c.T835A:p.S279T	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.01	B	0.006	B	0.294	N	1.000	N	0	N	-0.9	T	-0.995	T	0.137	T	0.158	1.332	10.37	-5.94	-1.101	-0.055	2.850	0.097	0.00840203915101	.	0.00119808	0.0004	0	8.646e-05	0	0	1.506e-05	0	0.0028	0.0003558	55	154602	rs561412593	0.0001	0.0001	7.896e-05	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	2.987e-05	0	0	0	0	0	2.698e-06	8.28e-05	0.0023	9.191e-05	9.186e-05	7.709e-05	0.0001	0.0027	5.523e-05	4.361e-05	0.0016	0.0013	0	0	6.533e-05	0	0	0	0	0	0	0.0027	1.0	0.00964	T	1.0	0.01155	T	0.01	0.15535	B	0.006	0.12133	B	0.294218	0.03913	N	1.705140	1	0.08975	N	0.69	0.16971	N	-0.9	0.74896	T	0.8	0.01866	N	0.082	0.05799	-0.9952	0.31245	T	0.137	0.45337	T	10	0.0039900243	0.00077	T	0.008402	0.22231	T	0.097	0.27909	0.175	0.08135	0.229924730088	0.22615	0.3701783511461205	0.36931	0.181521542273	0.20404	0.324062049389	0.14036	T	0.133583	0.46435	T	-0.467337	0.00883	T	-0.449311	0.27773	T	0.0182363303172523	0.00543	T	0.245375	0.03595	T	0.035955742	0.04332	0.029822337	0.01364	0.035955742	0.04331	0.029822337	0.01364	-2.369	0.04946	T	.	.	0.073	0.04477	B	.	.	-0.570855	0.01653	0.116	0.36707807651635488	0.02376	0.10016	0.15636	N	AEFDBHCI	0.038476	0.05452	N	-1.58349856639715	0.01349	0.05877537	-1.62568045824237	0.01506	0.06820823	0.999963835953397	0.48965	0.67177	0.52595	0	0.588066	0.40923	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.09	-5.94	0.02060	0.090000	0.14865	-1.006000	0.06630	-0.776000	0.03386	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2974:0.3982:0.2009:0.1035	2.850	0.05214	775	0.48401	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2384.98	35	chr1	21887543	.	A	T	2384.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.230e-01;DP=886;ExcessHet=0.0000;FS=1.485;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.71;ReadPosRankSum=0.785;SOR=0.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1197	20	0	1	0
chr1	21978396	21978396	G	A	exonic	CELA3B	.	nonsynonymous SNV	CELA3B:NM_007352:exon2:c.G71A:p.R24H,	.	.	421	1091	10	0	0	10	0.00456204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.0	B	0.0	B	0.007	N	1.000	N	0.285	N	-2.16	D	-0.632	T	0.420	T	0.304	1.876	12.23	-10.2	-2.082	-2.185	12.317	0.319	0.0371692555097	7.7e-05	.	0.0002	9.612e-05	0	0	0.0008	0.0003	0	6.069e-05	0.000207	32	154602	rs141038744	0.0016	0.0024	0.0015	0.0017	0.0022	0.0016	0.0016	0.0019	0.0018	0.0004	0.0009	0.0011	0.0004	0.0034	0.0016	0.0016	0.0018	0.0022	0.0036	0.0049	0.0037	0.0034	0.0059	0.0033	0.0032	0.0054	0.0052	0.0008	0	0.0016	0.0023	0.0006	0.0044	0	0.0059	0.0033	0.0035	0.358	0.11994	T	0.229	0.25210	T	0.0	0.02946	B	0.0	0.01387	B	0.007306	0.01163	N	2.529540	1	0.08975	N	1.255	0.31814	L	-2.41	0.88533	D	0.6	0.02518	N	0.154	0.15888	-0.6321	0.63481	T	0.420	0.76556	T	10	0.039126813	0.02379	T	0.037169	0.57449	D	0.319	0.64112	.	.	0.0954503805726	0.09146	0.4556730093205391	0.45485	0.205366021206	0.22955	0.253240227699	0.04116	T	0.00303	0.02432	T	-0.0689393	0.41495	T	-0.336803	0.40707	T	0.0574381133510097	0.06760	T	0.0687931	0.00503	T	0.018113418	0.00333	0.022597525	0.00281	0.018113418	0.00333	0.022597525	0.00281	-5.191	0.38850	T	.	.	0.101	0.17615	B	.	.	0.472177	0.08418	5.173	0.87910613318515318	0.17573	0.00578	0.02610	N	AEFBI	0.085482	0.17329	N	-1.81953427079195	0.00499	0.02148352	-1.92661621036719	0.00433	0.01917433	0.994071141636979	0.33476	0.497415	0.19182	0	0.59043	0.45803	0	0.468601	0.07175	0	0.491896	0.07777	0	.	.	5.1	-10.2	0.00305	-0.243000	0.08933	-1.140000	0.06212	-0.942000	0.02081	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1653:0.2878:0.5469:0.0	12.317	0.54285	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	368.98	39	chr1	21978396	.	G	A	368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.11;DP=862;ExcessHet=0.0000;FS=1.162;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.37;MQRankSum=-8.055e+00;QD=5.51;ReadPosRankSum=-2.524e+00;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,102,1530	20	0	1	0
chr1	21978398	21978398	C	T	exonic	CELA3B	.	nonsynonymous SNV	CELA3B:NM_007352:exon2:c.C73T:p.P25S,	.	.	417	1095	10	0	0	10	0.00454545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.001	B	0.002	B	0.000	D	0.992	N	1.245	L	2.31	T	-1.047	T	0.038	T	0.323	2.388	13.94	4.17	1.114	0.941	13.200	0.094	0.0100996723404	.	.	0.0002	0	0	0	0.0008	0.0002	0	6.068e-05	3.84e-05	1	26028	rs769262423	0.0014	0.0022	0.0013	0.0015	0.0021	0.0013	0.0013	0.0019	0.0018	0.0003	0.0009	0.0011	0.0003	0.0033	0.0016	0.0013	0.0017	0.0021	0.0035	0.0048	0.0036	0.0033	0.0057	0.0032	0.0031	0.0052	0.0051	0.0008	0	0.0015	0.0023	0.0006	0.0045	0	0.0057	0.0033	0.0038	0.052	0.39097	T	0.036	0.52060	D	0.001	0.07471	B	0.002	0.06944	B	0.000056	0.53742	D	0.127744	0.991764	0.23986	N	1.565	0.39561	L	2.31	0.16794	T	-5.7	0.87380	D	0.28	0.31702	-1.0466	0.15361	T	0.038	0.16548	T	10	0.08696371	0.14835	T	0.010	0.26235	T	0.094	0.27141	.	.	0.0611884634855	0.05136	0.7483825438036639	0.74784	0.166043844648	0.18736	0.356677532196	0.18901	T	0.028613	0.20688	T	-0.224454	0.17389	T	-0.560189	0.16359	T	0.120394064784545	0.14468	T	0.257074	0.04045	T	0.14659725	0.33551	0.17140582	0.39321	0.14659725	0.33551	0.17140582	0.39320	-5.632	0.43084	T	.	.	0.123	0.25850	B	.	.	1.775219	0.22574	15.68	0.97385492898801918	0.33696	0.28659	0.23614	N	AEFBI	0.252745	0.37236	N	-0.68952758415734	0.16319	0.8303565	-0.69475238898778	0.17090	0.90722	0.365341940087057	0.19817	0.497415	0.19182	0	0.59043	0.45803	0	0.468601	0.07175	0	0.491896	0.07777	0	.	.	5.1	4.17	0.48303	1.431000	0.34534	1.016000	0.23368	0.524000	0.24156	0.007000	0.17678	0.000000	0.08366	0.001000	0.02609	0.0:0.8383:0.1617:0.0	13.200	0.59185	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	368.98	39	chr1	21978398	.	C	T	368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.69;DP=861;ExcessHet=0.0000;FS=1.162;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.65;MQRankSum=-8.055e+00;QD=5.51;ReadPosRankSum=-2.928e+00;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,102,1530	20	0	1	0
chr1	21978416	21978416	A	C	exonic	CELA3B	.	nonsynonymous SNV	CELA3B:NM_007352:exon2:c.A91C:p.N31H,	.	.	423	1089	10	0	0	10	0.00457038	.	.	2812452	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.003	B	0.025	B	0.000	D	0.969	D	2.37	M	2.17	T	-1.055	T	0.072	T	0.275	2.645	14.81	5.1	1.924	1.455	12.832	0.145	0.00896937710721	.	0.00319489	0.0012	0.0003	0.0024	0.0009	0.0017	0.0010	0.0022	0.0019	0.0014295	221	154602	rs138865928	0.0020	0.0028	0.0018	0.0021	0.0039	0.0019	0.0019	0.0036	0.0034	0.0012	0.0027	0.0030	0.0007	0.0037	0.0019	0.0017	0.0025	0.0039	0.0044	0.0054	0.0046	0.0042	0.0066	0.0041	0.0040	0.0061	0.0059	0.0016	0	0.0028	0.0029	0.0019	0.0048	0	0.0066	0.0048	0.0063	0.059	0.37536	T	0.051	0.47828	T	0.003	0.11197	B	0.025	0.20508	B	0.000001	0.62929	D	0.054773	0.969413	0.38726	D	2.375	0.68372	M	2.17	0.19020	T	-3.33	0.66206	D	0.498	0.53093	-1.0550	0.13040	T	0.072	0.29130	T	10	0.026186883	0.00791	T	0.008969	0.23631	T	0.145	0.38592	.	.	0.0806252709748	0.07271	0.71909276535124	0.71852	0.196614953336	0.22022	0.645078599453	0.59286	T	0.376937	0.74022	T	-0.528434	0.00392	T	-0.538619	0.18431	T	0.0555485125125992	0.06450	T	0.563244	0.19836	T	0.39449894	0.60350	0.30128324	0.56161	0.39449894	0.60350	0.30128324	0.56160	-8.037	0.61322	D	.	.	0.320	0.54514	B	.	.	3.541128	0.49734	22.8	0.989372278766526	0.48864	0.59085	0.30818	D	AEFGBI	0.535722	0.55423	D	-0.159271809040071	0.34843	1.993903	-0.080455807497522	0.36199	2.103598	0.00486843319821761	0.10742	0.497415	0.19182	0	0.59043	0.45803	0	0.468601	0.07175	0	0.491896	0.07777	0	.	.	5.1	5.1	0.68917	1.276000	0.32760	7.862000	0.71495	-0.117000	0.14459	0.003000	0.16062	1.000000	0.68203	0.787000	0.37188	1.0:0.0:0.0:0.0	12.832	0.57132	798	0.45050	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	172.98	39	chr1	21978416	.	A	C	172.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.71;DP=861;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.59;MQRankSum=-8.008e+00;QD=2.62;ReadPosRankSum=-2.453e+00;SOR=0.830	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,102,1530	20	0	1	0
chr1	21983722	21983722	C	T	exonic	CELA3B	.	nonsynonymous SNV	CELA3B:NM_007352:exon5:c.C391T:p.R131C,	.	.	425	1085	12	0	0	12	0.00549954	.	.	718664	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.823	P	0.100	N	1.000	N	1.965	M	-2.51	D	-0.244	T	0.468	T	0.712	1.792	11.95	2.43	0.355	-0.466	10.963	0.532	.	0.0011	0.0173722	0.0096	0.0010	0.0008	0.0251	0.0002	0.0004	0.0133	0.0540	0.0082923	1282	154602	rs149805485	0.0042	0.0042	0.0027	0.0058	0.0533	0.0041	0.0041	0.0520	0.0514	0.0008	0.0003	0	0.0204	7.489e-05	0.0038	0.0003	0.0055	0.0533	0.0031	0.0031	0.0022	0.0041	0.0567	0.0029	0.0028	0.0512	0.0490	0.0011	0	0.0004	0	0.0247	0	0.0034	0.0002	0.0024	0.0567	0.019	0.50132	D	0.028	0.54934	D	1.0	0.90584	D	0.823	0.59197	P	0.100394	0.19889	N	0.488930	0.999999	0.08975	N	2.59	0.75718	M	-2.51	0.89293	D	-5.75	0.87760	D	0.464	0.50056	-0.2436	0.76532	T	0.468	0.79476	T	10	0.003702402	0.00068	T	.	.	.	0.532	0.80307	.	.	0.399889258716	0.39604	0.6047300115706986	0.60404	0.738108888405	0.63096	0.457349479198	0.32947	T	0.41845	0.77079	T	-0.211407	0.19182	T	-0.0369708	0.67906	D	0.0491754289312339	0.05354	T	0.918108	0.70532	D	0.19427396	0.41170	0.27008674	0.52896	0.19427396	0.41170	0.27008674	0.52895	-10.02	0.74032	D	.	.	0.415	0.60399	A	.;.	.;.	3.340982	0.46033	22.2	0.99582197117975779	0.73099	0.06319	0.12316	N	AEFBI	0.240755	0.36248	N	-0.389966078087591	0.25826	1.40482	-0.597886246141452	0.19547	1.04929	1.53145191743026E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.42	2.43	0.28797	-0.359000	0.07683	0.703000	0.20862	-1.365000	0.01177	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.3509:0.6491:0.0:0.0	10.963	0.46608	772	0.48957	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	6259.11	108	chr1	21983722	.	C	T	6259.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.75;DP=3028;ExcessHet=0.1072;FS=1.754;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=49.99;MQRankSum=-3.390e-01;QD=14.10;ReadPosRankSum=-2.600e-02;SOR=0.562	GT:AD:DP:GQ:PL	0/0:150,0:150:99:0,120,1800	19	0	2	0
chr1	22511813	22511813	A	C	exonic	ZBTB40	.	nonsynonymous SNV	ZBTB40:NM_001330398:exon9:c.A1804C:p.T602P	.	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.0	B	0.001	B	0.990	N	1.000	N	0.695	N	-0.94	T	-0.933	T	0.189	T	0.074	2.095	12.96	-7.03	-1.235	-0.015	9.161	0.153	0.0147998039284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	0.18434	T	0.126	0.36765	T	0.0	0.02946	B	0.001	0.04355	B	0.989794	0.08038	N	0.994717	1	0.08975	N	0.55	0.14455	N	-0.94	0.75325	T	-1.2	0.32791	N	0.103	0.15046	-0.9333	0.43650	T	0.189	0.54064	T	10	0.044253767	0.03361	T	0.015	0.35150	T	0.153	0.40148	0.116	0.02439	0.379193981924	0.37526	0.14638626159737997	0.14560	0.150298648537	0.16954	0.278579056263	0.07295	T	0.024018	0.18227	T	-0.223312	0.17542	T	-0.558548	0.16513	T	0.0359694212675095	0.02976	T	0.462854	0.13445	T	0.074280046	0.16658	0.09294639	0.21929	0.074280046	0.16658	0.09294639	0.21929	-3.297	0.13698	T	.	.	0.070	0.12181	B	.;.;.	.;.;.	1.257594	0.16549	12.61	0.28703041354361669	0.01487	0.14688	0.18534	N	AEFBI	0.183408	0.31073	N	-1.37546185883262	0.02869	0.1273322	-1.45491284814855	0.02726	0.1259007	0.0252566081396356	0.13636	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.73	-7.03	0.01428	-0.177000	0.09789	-0.042000	0.12656	-0.095000	0.16041	0.019000	0.19563	0.000000	0.08366	0.228000	0.22680	0.2375:0.3156:0.4469:0.0	9.161	0.36185	858	0.34001	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1654.98	37	chr1	22511813	.	A	C	1654.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.360e-01;DP=855;ExcessHet=0.0000;FS=0.626;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=-2.743e+00;SOR=0.633	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1024	20	0	1	0
chr1	22597780	22597780	C	T	exonic	EPHA8	.	nonsynonymous SNV	EPHA8:NM_020526:exon11:c.C2035T:p.R679W,	.	.	.	.	.	.	.	.	.	.	.	2367913	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.986	D	0.000	D	1.000	D	1.57	L	-1.71	D	0.228	D	0.608	D	0.505	3.628	18.46	2.56	1.130	0.150	12.220	0.589	0.101656986436	.	.	4.994e-05	0	8.654e-05	0	0	0	0.0011	0.0002	3.88e-05	6	154602	rs557674245	5.339e-05	5.336e-05	3.814e-05	6.88e-05	0.0006	4.347e-05	4.02e-05	0.0005	0.0004	0	0	0	0.0001	0	0	2.068e-05	1.656e-05	0.0006	5.252e-05	5.249e-05	1.285e-05	9.4e-05	0.0010	2.555e-05	1.829e-05	0.0004	0.0003	4.811e-05	0	0	0	0.0002	0	0	0	0	0.0010	0.0	0.91255	D	0.06	0.45744	T	1.0	0.90584	D	0.986	0.76916	D	0.000297	0.46274	D	0.136815	0.999892	0.50595	D	2.3	0.65703	M	-1.71	0.83157	D	-6.88	0.93217	D	0.65	0.66101	0.228	0.86379	D	0.608	0.86106	D	10	0.745757	0.75276	D	0.101657	0.77467	D	0.589	0.83582	0.664	0.80199	0.875420430609	0.87420	0.6213300709569076	0.62066	0.823517905895	0.67284	0.290923297405	0.09057	T	0.693587	0.91113	D	-0.179673	0.23783	T	-0.128272	0.61117	T	0.65522289276123	0.38687	D	0.951205	0.81406	D	0.85451937	0.87671	0.5667653	0.74922	0.85451937	0.87673	0.5667653	0.74922	-9.04	0.67955	D	.	.	0.125	0.26388	B	.	.	5.091568	0.85029	28.5	0.99916580171171954	0.98449	0.35217	0.25250	N	AEFDBI	0.533801	0.55310	D	0.165085862022516	0.49528	3.152214	0.0639671939400722	0.42753	2.591419	2.67762217187151E-4	0.06244	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.56	2.56	0.29842	0.219000	0.17426	3.292000	0.37313	0.599000	0.40250	0.483000	0.26824	0.172000	0.23351	0.942000	0.48361	0.3062:0.6938:0.0:0.0	12.220	0.53737	889	0.27310	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1412.98	36	chr1	22597780	.	C	T	1412.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.896e+00;DP=831;ExcessHet=0.0000;FS=0.671;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=0.407;SOR=0.625	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1312	20	0	1	0
chr1	22661028	22661028	G	A	exonic	C1QB	.	nonsynonymous SNV	C1QB:NM_000491:exon3:c.G404A:p.R135H	C1q deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2322018	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.999	D	0.919	D	0.001	N	1.000	N	1.79	L	-0.93	T	-0.238	T	0.557	D	0.372	2.335	13.77	5.05	2.520	2.861	17.352	0.267	0.051493727007	.	.	8.239e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs753074108	1.847e-05	1.847e-05	1.77e-05	1.925e-05	5.038e-05	1.265e-05	1.084e-05	1.377e-05	1.15e-05	2.987e-05	0	0	5.038e-05	0	0	2.068e-05	1.656e-05	0	1.976e-05	1.971e-05	1.288e-05	2.698e-05	0.0004	5.25e-06	2.46e-06	6.921e-05	2.892e-05	2.42e-05	0	0	0	0.0004	0	0	0	0	0	0.014	0.53172	D	0.111	0.37589	T	0.999	0.77913	D	0.919	0.65474	D	0.001483	0.38855	N	0.218726	0.999959	0.19072	N	2.43	0.70455	M	-1.04	0.76561	T	-1.23	0.31576	N	0.412	0.45237	-0.2376	0.76688	T	0.557	0.83841	D	10	0.4148171	0.56470	T	0.051494	0.64684	D	0.267	0.58126	0.392	0.41606	0.808399012084	0.80660	0.5547209130482287	0.55399	1.48848578561	0.86842	0.324235796928	0.14062	T	0.201631	0.59970	T	0.0150439	0.53710	T	-0.216167	0.53106	T	0.940804839134216	0.61347	D	0.850515	0.53399	D	0.37112677	0.58668	0.21306722	0.45802	0.37112677	0.58668	0.21306722	0.45801	-4.593	0.32083	T	.	.	0.148	0.36633	B	.;.;.;.	.;.;.;.	4.081686	0.60724	24.3	0.9989622604500249	0.96895	0.20616	0.21106	N	AEFBI	0.824806	0.74463	D	0.180120722256424	0.50246	3.216427	0.0418472747298275	0.41679	2.508105	0.00108707928239074	0.08206	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.05	5.05	0.67566	5.662000	0.67701	6.576000	0.55982	0.676000	0.76740	0.971000	0.34370	0.998000	0.33993	0.044000	0.14658	0.0:0.0:1.0:0.0	17.352	0.87215	892	0.26670	C1q domain;C1q domain|C1q domain|C1q domain|C1q domain;C1q domain|C1q domain|C1q domain|C1q domain;C1q domain|C1q domain|C1q domain|C1q domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2679.98	34	chr1	22661028	.	G	A	2679.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.800e-02;DP=952;ExcessHet=0.0000;FS=0.973;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.72;ReadPosRankSum=-6.430e-01;SOR=0.783	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1620	20	0	1	0
chr1	22661144	22661144	G	A	exonic	C1QB	.	nonsynonymous SNV	C1QB:NM_000491:exon3:c.G520A:p.A174T	C1q deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.967	D	0.464	P	0.000	D	0.760	D	1.895	L	-0.96	T	-0.071	T	0.370	T	0.524	3.830	19.45	4.67	2.596	3.206	16.697	0.369	0.0505392237185	.	.	4.121e-05	0	0.0004	0	0	0	0	0	3.88e-05	6	154602	rs748553280	1.026e-05	1.094e-05	1.497e-05	5.5e-06	0.0002	6.16e-06	4.89e-06	7.281e-05	5.16e-05	0	0.0002	0	0	0	0	7.194e-06	0	0	6.576e-06	6.568e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.323	0.13479	T	0.289	0.21277	T	0.967	0.56408	D	0.464	0.46572	P	0.000479	0.44119	D	0.188268	0.759624	0.34023	D	2.15	0.60148	M	-0.96	0.75553	T	-1.59	0.41428	N	0.409	0.46086	-0.0707	0.80765	T	0.370	0.72925	T	9	0.3370037	0.50830	T	0.050539	0.64283	D	0.369	0.68844	0.589	0.71749	0.779958167838	0.77793	0.5558971246438088	0.55516	1.30266694404	0.83060	0.402418494225	0.25406	T	0.188727	0.58813	T	-0.175866	0.24352	T	-0.205682	0.54107	T	0.394791543483734	0.28746	T	0.728627	0.35772	T	0.40801352	0.61283	0.27208537	0.53116	0.40801352	0.61284	0.27208537	0.53115	-6.199	0.47915	T	.	.	0.158	0.35034	B	.;.;.	.;.;.	3.401931	0.47146	22.4	0.99901575802480458	0.97350	0.91706	0.54091	D	AEFBI	0.891177	0.82690	D	0.417983409967066	0.62411	4.456561	0.437908780917897	0.63944	4.638665	0.0178099585138513	0.12991	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.67	4.67	0.58089	4.605000	0.60825	11.757000	0.95541	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	16.697	0.85198	892	0.26670	C1q domain|C1q domain|C1q domain|C1q domain;C1q domain|C1q domain|C1q domain|C1q domain;C1q domain|C1q domain|C1q domain|C1q domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2865.98	34	chr1	22661144	.	G	A	2865.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.084;DP=938;ExcessHet=0.0000;FS=0.487;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=2.01;SOR=0.760	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1620	20	0	1	0
chr1	22863072	22863072	G	C	exonic	EPHB2	.	nonsynonymous SNV	EPHB2:NM_001309192:exon4:c.G847C:p.D283H	.	.	0	1512	10	0	0	10	0.00329598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.983	D	0.863	P	0.000	D	1.000	D	2.645	M	2.33	T	1.023	D	0.928	D	0.55	3.778	19.18	4.97	2.582	6.520	10.542	0.634	0.297585107024	0.0002	0.000399361	0.0003	9.61e-05	0.0002	0	0	0.0003	0	0.0005	0.0002523	39	154602	rs142113032	0.0003	0.0003	0.0003	0.0003	0.0047	0.0003	0.0003	0.0033	0.0028	5.974e-05	0.0003	0	0	1.872e-05	0.0047	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	0.0008	0.0002	0.0002	0.0003	0.0002	4.811e-05	0	0.0003	0	0	0	0.0068	0.0003	0.0009	0.0008	0.003	0.68238	D	0.011	0.64786	D	0.907	0.50062	P	0.863	0.61398	P	0.000000	0.84330	D	0.000000	0.999867	0.50061	D	2.865	0.83145	M	-4.36	0.97538	D	-3.13	0.63901	D	0.265	0.30004	1.023	0.97584	D	0.928	0.97631	D	10	0.16462514	0.30793	T	0.297585	0.90774	D	0.634	0.85975	.	.	0.902570044861	0.90159	0.6393947624844962	0.63874	0.711923238635	0.61746	0.598686218262	0.52719	T	0.082436	0.56719	T	0.0301825	0.55749	T	0.133539	0.79124	D	0.11474635031325	0.13908	T	0.30317	0.06521	T	0.5821111	0.71723	0.569727	0.75087	0.5821111	0.71724	0.569727	0.75087	-13.397	0.90955	D	.	.	0.293	0.53936	B	.;.;.;.;.	.;.;.;.;.	4.712016	0.75714	26.4	0.99539149090040058	0.70398	0.97714	0.76605	D	AEFDBI	0.784575	0.71522	D	0.645503851374795	0.76078	6.420633	0.603275290510256	0.75179	6.264763	0.999985450061189	0.51787	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.97	4.97	0.65419	6.831000	0.75116	11.896000	0.99222	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0888:0.0:0.9112:0.0	10.542	0.44228	588	0.69043	Tyrosine-protein kinase ephrin type A/B receptor-like|Tyrosine-protein kinase ephrin type A/B receptor-like;.;Tyrosine-protein kinase ephrin type A/B receptor-like|Tyrosine-protein kinase ephrin type A/B receptor-like;.;Tyrosine-protein kinase ephrin type A/B receptor-like|Tyrosine-protein kinase ephrin type A/B receptor-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2949.11	33	chr1	22863072	.	G	C	2949.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.130;DP=900;ExcessHet=0.1072;FS=1.600;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=1.93;SOR=0.812	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1477	19	0	2	0
chr1	22953111	22953111	C	T	exonic	LACTBL1	.	nonsynonymous SNV	LACTBL1:NM_001289974:exon8:c.G1672A:p.D558N,	.	.	474	1042	6	0	0	6	0.00287081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0063	0	0	0	0.0427	0.0033	0.0625	0	0.0006145	95	154602	rs183423016	0.0044	0.0033	0.0045	0.0044	0.0047	0.0043	0.0043	0.0046	0.0046	0.0006	0.0021	0.0016	0	0.0095	0.0031	0.0047	0.0029	0.0006	0.0033	0.0033	0.0030	0.0036	0.0044	0.0031	0.0030	0.0040	0.0038	0.0008	0	0.0018	0.0003	0	0.0125	0.0034	0.0044	0.0024	0.0004	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	2.16	0.60381	M	.	.	.	.	.	.	0.553	0.57860	.	.	.	.	.	.	.	0.008165479	0.00185	T	.	.	.	.	.	.	.	0.39694197178	0.39312	0.6323432629744559	0.63168	.	.	.	.	.	0.004782	0.04195	T	-0.501457	0.00561	T	-0.49158	0.23225	T	.	.	.	0.936106	0.76057	D	0.11265751	0.26614	0.28331494	0.54324	0.11265751	0.26613	0.28331494	0.54323	-3.972	0.23383	T	.	.	0.673	0.71868	P	.;.	.;.	4.717928	0.75867	26.4	0.86755802676307481	0.16751	0.97941	0.78296	D	AEFDBI	0.605307	0.59607	D	.	.	.	.	.	.	0.999511076539664	0.40117	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.67	3.68	0.41359	5.477000	0.66525	5.489000	0.48743	0.505000	0.23025	1.000000	0.71638	1.000000	0.68203	0.270000	0.23768	0.0:0.8232:0.1767:0.0	11.964	0.52315	781	0.47532	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3555.11	37	chr1	22953111	.	C	T	3555.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.028;DP=945;ExcessHet=0.1072;FS=0.966;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=0.457;SOR=0.788	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1172	19	0	2	0
chr1	22953698	22953698	A	G	exonic	LACTBL1	.	nonsynonymous SNV	LACTBL1:NM_001289974:exon8:c.T1085C:p.L362P,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267385792829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1.005	0.25186	L	0.79	0.49068	T	.	.	.	0.596	0.61511	.	.	.	.	.	.	.	0.4733123	0.59993	T	0.267386	0.89745	D	.	.	.	.	0.778704876926	0.77666	0.9405377060150198	0.94034	.	.	.	.	.	0.119685	0.44139	T	-0.0896998	0.38126	T	-0.366624	0.37283	T	.	.	.	0.762324	0.38756	T	0.49523002	0.66814	0.6361182	0.78755	0.49523002	0.66815	0.6361182	0.78755	-12.603	0.87664	D	.	.	0.721	0.78943	P	.;.	.;.	3.995866	0.58848	24.0	0.75442064445901258	0.11077	0.90810	0.52303	D	AEFDBCI	0.796248	0.72344	D	.	.	.	.	.	.	0.835809893442571	0.24776	0.59774	0.34471	0	0.59043	0.45803	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	4.61	3.46	0.38718	4.920000	0.63089	10.789000	0.83761	0.536000	0.24961	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.8297:0.0:0.0:0.1703	8.719	0.33591	784	0.47045	Beta-lactamase-related;Beta-lactamase-related	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	640.98	51	chr1	22953698	.	A	G	640.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.623e+00;DP=822;ExcessHet=0.0000;FS=1.078;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.57;ReadPosRankSum=-5.790e-01;SOR=0.892	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1172	20	0	1	0
chr1	22953867	22953867	-	GC	exonic	LACTBL1	.	frameshift insertion	LACTBL1:NM_001289974:exon8:c.915_916insGC:p.L306Afs*167,	.	.	423	1091	8	0	0	8	0.00365297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0006	0	0	0.0002689	7	26028	rs753628430	0.0007	0.0007	0.0007	0.0007	0.0111	0.0007	0.0006	0.0089	0.0081	0.0004	0.0004	0.0002	0	2.085e-05	0.0111	0.0008	0.0010	0.0001	0.0006	0.0006	0.0006	0.0006	0.0011	0.0005	0.0005	0.0009	0.0008	0.0001	0	0.0003	0.0003	0	9.409e-05	0.0102	0.0011	0.0014	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1651.94	41	chr1	22953867	.	G	GGC	1651.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.130e-01;DP=895;ExcessHet=0.0000;FS=0.767;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.21;ReadPosRankSum=0.202;SOR=0.776	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1172	20	0	1	0
chr1	22955369	22955369	G	A	exonic	LACTBL1	.	nonsynonymous SNV	LACTBL1:NM_001289974:exon7:c.C710T:p.A237V,	.	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.502	T	0.273	T	.	2.217	13.37	5.4	2.519	7.491	14.667	0.179	0.050761660546	.	.	0.0003	0	0	0	0	0	0	0.0007	3.88e-05	6	154602	rs562795697	8.01e-05	7.798e-05	5.645e-05	0.0001	0.0007	6.786e-05	6.346e-05	0.0004	0.0004	3.165e-05	2.801e-05	0	0	0	0.0007	5.468e-05	5.173e-05	0.0006	2.629e-05	2.627e-05	1.285e-05	4.037e-05	0.0004	8.14e-06	5.14e-06	7.299e-05	3.032e-05	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0004	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1.985	0.53793	M	0.99	0.41750	T	.	.	.	0.804	0.79986	.	.	.	.	.	.	.	0.32952905	0.50204	T	0.050762	0.64379	D	.	.	.	.	0.316788114976	0.31282	0.6964412038935782	0.69585	.	.	.	.	.	0.002851	0.02248	T	-0.184646	0.23047	T	-0.142213	0.59925	T	0.713110506534576	0.41353	D	0.920908	0.71352	D	0.18711556	0.40151	0.56453305	0.74797	0.18711556	0.40150	0.56453305	0.74798	-7.244	0.55796	T	.	.	0.312	0.53936	B	.;.	.;.	3.981646	0.58534	24.0	0.98683857765128635	0.44652	0.98301	0.81414	D	AEFDGBI	0.863545	0.78211	D	0.43383823508697	0.63292	4.560226	0.518297928741623	0.69223	5.329648	0.999998667886694	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	5.4	5.4	0.77957	7.638000	0.82478	9.595000	0.81054	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	14.667	0.68522	787	0.46738	Beta-lactamase-related;Beta-lactamase-related	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1072.98	33	chr1	22955369	.	G	A	1072.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.650e-01;DP=783;ExcessHet=0.0000;FS=1.671;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-7.160e-01;SOR=0.896	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1176	20	0	1	0
chr1	23093952	23093952	G	C	exonic	LUZP1	.	nonsynonymous SNV	LUZP1:NM_001142546:exon3:c.C310G:p.R104G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.99	D	0.796	P	0.001	D	0.669	N	2.175	M	2.36	T	-0.420	T	0.250	T	0.625	3.088	16.31	5.25	1.601	3.744	16.031	0.166	0.0373381244063	.	.	8.242e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs769728664	8.209e-06	8.209e-06	5.445e-06	1.1e-05	0.0003	4.38e-06	3.46e-06	6.092e-05	2.521e-05	0	0	3.826e-05	0	0	0.0003	3.597e-06	3.311e-05	3.478e-05	6.575e-06	6.568e-06	1.285e-05	0	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.055	0.61642	T	0.99	0.63424	D	0.796	0.58006	P	0.000557	0.43413	D	0.000000	0.669444	0.30377	N	1.935	0.51832	L	2.36	0.49919	T	-4.28	0.83830	D	0.622	0.63713	-0.4204	0.71380	T	0.250	0.62004	T	10	0.33190674	0.50405	T	0.037338	0.57553	D	0.166	0.42578	0.097	0.01334	0.639123189312	0.63615	0.08425073440238241	0.08359	0.737478978049	0.63061	0.363046079874	0.19828	T	0.578124	0.86142	D	-0.0577067	0.43266	T	-0.223814	0.52369	T	0.979437828063965	0.72830	D	0.937306	0.78341	D	0.4854378	0.66229	0.6185488	0.77787	0.4854378	0.66230	0.6185488	0.77788	-5.361	0.41587	T	.	.	0.233	0.46585	B	.;.;.;.	.;.;.;.	4.346652	0.66733	25.0	0.9988072089636022	0.95653	0.96830	0.71169	D	AEFBI	0.625214	0.60850	D	0.612903640945336	0.73990	6.057182	0.608924874024791	0.75589	6.336967	0.999921603781081	0.46280	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	6.17	5.25	0.73169	3.402000	0.52356	7.552000	0.60294	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:0.8647:0.1353	16.031	0.80379	827	0.39843	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1438.98	41	chr1	23093952	.	G	C	1438.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.62;DP=903;ExcessHet=0.0000;FS=2.040;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.41;ReadPosRankSum=0.495;SOR=0.569	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr1	23193100	23193100	G	A	exonic	HTR1D	.	nonsynonymous SNV	HTR1D:NM_000864:exon2:c.C1120T:p.R374W,	.	.	426	1084	12	0	0	12	0.00550459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.014	B	0.006	B	0.001	N	0.943	D	2.18	M	1.09	T	-0.933	T	0.112	T	0.417	1.723	11.72	2.32	0.644	1.556	9.711	0.114	0.0163420615802	0.0006	0.00139776	0.0014	0	0.0008	0	0	0.0007	0.0012	0.0077	0.0011966	185	154602	rs147605856	0.0008	0.0008	0.0006	0.0010	0.0062	0.0008	0.0008	0.0057	0.0056	0.0002	0.0006	0.0009	0	1.877e-05	0.0031	0.0005	0.0011	0.0062	0.0006	0.0006	0.0005	0.0008	0.0069	0.0005	0.0005	0.0050	0.0044	0.0001	0	0.0003	0.0014	0	0	0.0068	0.0007	0.0010	0.0069	0.014	0.53172	D	0.002	0.79402	D	0.014	0.16867	B	0.006	0.12133	B	0.001113	0.40219	N	0.238170	0.942652	0.37380	D	2.31	0.66127	M	1.09	0.39223	T	-3.79	0.71639	D	0.101	0.08366	-0.9335	0.43620	T	0.112	0.40191	T	10	0.006167829	0.00139	T	0.016342	0.37549	T	0.114	0.32008	.	.	0.351146185902	0.34720	0.3426071840236831	0.34173	0.126176372359	0.14220	0.245332121849	0.03292	T	0.608422	0.87554	D	-0.416178	0.01810	T	-0.367419	0.37190	T	0.0283388284574043	0.01738	T	0.612939	0.23352	T	0.1539406	0.34869	0.1303071	0.31314	0.1539406	0.34869	0.1303071	0.31313	-5.503	0.41896	T	.	.	0.123	0.25721	B	.	.	3.182385	0.43203	21.7	0.99274471503739503	0.57661	0.83710	0.42810	D	AEFBI	0.549010	0.56206	D	-0.15522878798047	0.35013	2.00576	-0.0651421133318892	0.36841	2.14929	0.994533957366013	0.33682	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.34	2.32	0.27895	1.606000	0.36437	3.573000	0.39130	0.672000	0.70159	0.959000	0.33545	1.000000	0.68203	0.455000	0.28006	0.0:0.1301:0.4673:0.4027	9.711	0.39411	735	0.53711	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1089.98	42	chr1	23193100	.	G	A	1089.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.60;DP=835;ExcessHet=0.0000;FS=0.912;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.73;ReadPosRankSum=0.228;SOR=0.525	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1458	20	0	1	0
chr1	23193358	23193358	G	A	exonic	HTR1D	.	nonsynonymous SNV	HTR1D:NM_000864:exon2:c.C862T:p.R288C,	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.987	D	0.000	D	1.000	D	3.11	M	-0.79	T	0.087	D	0.566	D	0.386	3.053	16.19	2.14	1.253	3.067	6.561	0.545	0.137550439549	0.0006	0.000399361	0.0002	0.0023	0	0	0	5.995e-05	0	0	0.0002005	31	154602	rs140039742	0.0001	0.0001	0.0001	0.0001	0.0017	0.0001	0.0001	0.0014	0.0012	0.0017	8.944e-05	0	0	0	0.0003	0.0001	0.0002	1.159e-05	0.0006	0.0006	0.0007	0.0005	0.0018	0.0005	0.0004	0.0015	0.0014	0.0018	0	0.0002	0	0	0	0	0.0001	0	0.0002	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.175	0.88760	M	-0.79	0.73739	T	-3.74	0.71042	D	0.407	0.44761	0.087	0.83937	D	0.566	0.84258	D	10	0.073269874	0.11049	T	0.13755	0.82005	D	0.545	0.81077	.	.	0.781865484797	0.77985	0.4025102612797648	0.40167	0.671141632783	0.59445	0.567036569118	0.48260	T	0.694	0.91136	D	-0.243971	0.14846	T	-0.136454	0.60424	T	0.364396328825973	0.27580	T	0.965803	0.87368	D	0.71304303	0.78775	0.45999497	0.68634	0.71304303	0.78776	0.45999497	0.68634	-11.184	0.80658	D	.	.	0.289	0.52119	B	.	.	5.496672	0.91543	32	0.99921998276589874	0.98787	0.86550	0.45853	D	AEFBI	0.414329	0.48364	N	0.599270375576618	0.73129	5.915975	0.481531290017055	0.66767	4.995113	0.997204868166458	0.35373	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.34	2.14	0.26518	3.090000	0.49888	7.192000	0.57776	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.0914:0.0:0.4033:0.5053	6.561	0.21683	735	0.53711	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1985.98	42	chr1	23193358	.	G	A	1985.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.903;DP=939;ExcessHet=0.0000;FS=1.265;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=0.706;SOR=0.574	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1458	20	0	1	0
chr1	23424632	23424632	A	T	exonic	TCEA3	.	startloss	TCEA3:NM_003196:exon1:c.T2A:p.M1?,	.	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.995	D	0.000	D	0.912	D	.	.	.	.	-0.204	T	0.351	T	0.687	3.825	19.42	3.51	1.607	6.882	9.828	0.696	0.246278617956	.	.	6.739e-05	0	0	0	0	4.589e-05	0	0.0003	5.17e-05	8	154602	rs751892470	3.233e-05	3.283e-05	2.054e-05	4.423e-05	0.0009	2.491e-05	2.233e-05	0.0003	0.0002	0	0	0	0	0	0.0009	2.071e-05	6.644e-05	0.0002	2.631e-05	2.626e-05	1.287e-05	4.034e-05	0.0002	8.15e-06	5.14e-06	4.89e-06	1.83e-06	0	0	0	0	0	0	0.0034	2.944e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.911785	0.36430	D	.	.	.	.	.	.	-2.98	0.66206	D	0.935	0.94077	-0.2044	0.77557	T	0.351	0.71470	T	8	0.9227562	0.91627	D	0.246279	0.88921	D	0.696	0.89007	0.712	0.84781	0.645372302287	0.64243	0.6892709292112918	0.68867	.	.	.	.	.	0.273162	0.64560	T	-0.0300298	0.47412	T	0.0152801	0.71325	D	0.862555742263794	0.51285	D	.	.	.	0.9065788	0.91978	0.8683394	0.92751	0.9065788	0.91979	0.8683394	0.92752	-9.882	0.73202	D	.	.	.	.	.	.;.	.;.	4.430627	0.68699	25.3	0.98544503232285163	0.42757	0.91510	0.53682	D	AEFDBHCI	0.178004	0.30526	N	0.547797660283436	0.69948	5.430196	0.486544642037335	0.67097	5.038711	0.999999942505956	0.74766	0.582742	0.33608	0	0.541168	0.11318	0	0.606814	0.37721	0	0.56751	0.32155	0	.	.	3.51	3.51	0.39297	5.283000	0.65426	10.750000	0.83676	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	9.828	0.40091	293	0.88320	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	738.98	33	chr1	23424632	.	A	T	738.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.930e-01;DP=772;ExcessHet=0.0000;FS=2.230;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.53;ReadPosRankSum=-1.381e+00;SOR=0.432	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,108,1157	20	0	1	0
chr1	23521045	23521045	G	A	exonic	E2F2	.	nonsynonymous SNV	E2F2:NM_004091:exon4:c.C605T:p.T202I,	.	.	415	1077	30	0	0	30	0.0137363	.	.	718803	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.974	D	0.601	P	0.128	N	0.593	N	1.61	L	-2.39	D	0.367	D	0.660	D	0.207	1.996	12.63	4.07	0.823	0.911	15.560	0.262	0.0904742021701	0.0035	0.000998403	0.0030	0.0014	0.0049	0	0.0002	0.0041	0.0034	0.0008	0.002943	455	154602	rs116694174	0.0042	0.0042	0.0043	0.0042	0.0239	0.0041	0.0041	0.0206	0.0194	0.0016	0.0045	0.0013	0	0.0003	0.0239	0.0048	0.0048	0.0014	0.0031	0.0031	0.0035	0.0027	0.0058	0.0028	0.0028	0.0048	0.0045	0.0009	0	0.0058	0.0017	0	9.416e-05	0.0170	0.0045	0.0071	0.0019	0.114	0.28646	T	0.175	0.29945	T	0.974	0.57829	D	0.601	0.50808	P	0.128026	0.18746	N	0.590344	0.592948	0.31004	N	2.35	0.67516	M	-2.39	0.88377	D	-1.23	0.31170	N	0.055	0.02658	0.367	0.88598	D	0.660	0.88190	D	10	0.0036780536	0.00067	T	0.090474	0.75526	D	0.262	0.57482	.	.	0.619622683959	0.61654	0.18525270660731205	0.18443	0.397296365121	0.40821	0.36440384388	0.20025	T	0.145183	0.48218	T	-0.353739	0.04496	T	-0.278564	0.46951	T	0.0231836068114854	0.01045	T	.	.	.	0.038707763	0.05208	0.056382116	0.10063	0.038707763	0.05208	0.056382116	0.10063	-6.728	0.52021	T	.	.	0.107	0.20196	B	.	.	2.635034	0.34271	19.58	0.9948509391885475	0.67124	0.43320	0.27072	N	AEFGBCI	0.112629	0.22255	N	-0.244276433045562	0.31333	1.755817	-0.334354100849213	0.26997	1.495025	0.999997327058369	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	5.99	4.07	0.46726	1.320000	0.33272	1.821000	0.29040	-0.153000	0.12021	0.002000	0.15269	0.012000	0.20211	0.187000	0.21511	0.0:0.2617:0.7383:0.0	15.560	0.75974	366	0.84579	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1778.08	32	chr1	23521045	.	G	A	1778.08	.	AC=2;AF=0.048;AN=42;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.19;SOR=1.569	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	1	0	0
chr1	23743468	23743468	C	G	exonic	ELOA	.	nonsynonymous SNV	ELOA:NM_003198:exon1:c.C43G:p.P15A,	.	.	423	1083	15	1	0	17	0.00778745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.002	B	0.001	B	.	.	1.000	N	0	N	3.26	T	-0.960	T	0.011	T	0.097	0.953	8.886	1.64	0.424	1.318	4.833	0.042	0.0584561948773	.	0.00199681	0.0051	0	0	0	.	0.0011	0.0088	0.0068	0.0004722	73	154602	rs556867091	0.0008	0.0007	0.0005	0.0010	0.0074	0.0007	0.0007	0.0069	0.0067	0	0.0002	0	0	0.0002	0.0056	0.0004	0.0009	0.0074	0.0004	0.0004	0.0004	0.0005	0.0062	0.0004	0.0003	0.0045	0.0039	4.81e-05	0	0.0004	0	0	0	0	0.0004	0.0009	0.0062	0.062	0.36912	T	0.0	0.92824	D	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	0.999999	0.08975	N	0	0.06538	N	3.26	0.06681	T	-0.15	0.09297	N	0.129	0.12484	-0.9598	0.39218	T	0.011	0.04321	T	9	0.0049416423	0.00106	T	0.058456	0.67324	D	0.042	0.11227	.	.	0.043077524339	0.03247	0.11133099168827182	0.11062	0.342242573836	0.36158	0.873043656349	0.93001	D	0.033943	0.23120	T	-0.556159	0.00268	T	-0.569187	0.15524	T	0.0431040774809014	0.04256	T	0.460354	0.13329	T	0.044194154	0.07020	0.09043747	0.21207	0.044194154	0.07020	0.09043747	0.21206	-3.147	0.11843	T	.	.	0.077	0.06295	B	.;.	.;.	2.368920	0.30397	18.42	0.91378606310263222	0.20644	0.07440	0.13457	N	ALL	0.023687	0.01356	N	-0.800264677036182	0.13304	0.6544211	-0.766233828198216	0.15324	0.805361	0.999999999999764	0.74766	0.006267	0.00052	3	0.374146	0.05931	1	0.47417	0.07244	0	0.249971	0.05119	0	.	.	2.58	1.64	0.22949	2.105000	0.41449	2.894000	0.35409	-0.387000	0.05364	1.000000	0.71638	1.000000	0.68203	0.452000	0.27939	0.0:0.5398:0.317:0.1432	4.833	0.12814	497	0.76227	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	404.98	40	chr1	23743468	.	C	G	404.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.070e-01;DP=724;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.46;ReadPosRankSum=1.98;SOR=0.553	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1066	20	0	1	0
chr1	23751467	23751467	A	G	exonic	ELOA	.	nonsynonymous SNV	ELOA:NM_003198:exon4:c.A940G:p.N314D,	.	.	413	1096	13	0	0	13	0.00589569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.0	B	0.069	N	1.000	N	0	N	3.34	T	-0.906	T	0.006	T	0.019	0.407	6.211	0.717	0.086	1.008	8.956	0.042	0.00455877755111	0.0034	0.00219649	0.0032	0.0005	0.0018	0	0.0006	0.0050	0.0034	0.0014	0.0031824	492	154602	rs35797868	0.0034	0.0034	0.0034	0.0034	0.0061	0.0033	0.0033	0.0045	0.0039	0.0005	0.0025	0.0153	2.519e-05	0.0007	0.0061	0.0036	0.0036	0.0015	0.0026	0.0026	0.0027	0.0024	0.0038	0.0024	0.0023	0.0034	0.0033	0.0004	0	0.0024	0.0138	0	0.0008	0.0068	0.0038	0.0028	0.0029	0.292	0.14894	T	0.48	0.14961	T	0.0	0.02946	B	0.0	0.01387	B	0.069205	0.21620	N	0.511947	1	0.08975	N	0	0.06538	N	3.34	0.06063	T	-0.11	0.08653	N	0.089	0.06720	-0.9063	0.47297	T	0.006	0.01981	T	10	0.0031723678	0.00053	T	0.004559	0.11252	T	0.042	0.11227	.	.	0.082315109003	0.07666	0.03013452124847207	0.02962	0.362323139086	0.37892	0.349811136723	0.17894	T	0.038154	0.24739	T	-0.721544	0.00027	T	-0.808684	0.01695	T	0.009974280372262	0.00133	T	0.29657	0.05494	T	0.046090946	0.07654	0.0523956	0.08625	0.046090946	0.07654	0.0523956	0.08624	-3.109	0.11399	T	.	.	0.080	0.15832	B	.;.;.	.;.;.	0.051699	0.04652	1.306	0.95390865642986511	0.26830	0.13423	0.17847	N	ALL	0.119543	0.23327	N	-1.11409369350449	0.06391	0.2940844	-1.07994913376989	0.08096	0.3965636	0.999999841477664	0.74766	0.77792	0.99625	0	0.73237	0.95558	0	0.73237	0.93354	0	0.825845	0.99933	0	.	.	5.64	0.717	0.17352	0.426000	0.21081	0.425000	0.18262	0.756000	0.94297	0.065000	0.21925	0.000000	0.08366	0.010000	0.09038	0.5435:0.0:0.4565:0.0	8.956	0.34978	478	0.77585	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1823.98	33	chr1	23751467	.	A	G	1823.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.978e+00;DP=826;ExcessHet=0.0000;FS=2.214;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=-4.490e-01;SOR=0.909	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,954	20	0	1	0
chr1	24093064	24093064	C	A	exonic	MYOM3	.	nonsynonymous SNV	MYOM3:NM_152372:exon10:c.G973T:p.D325Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.977	D	0.192	N	0.999	N	1.78	L	0.87	T	-0.719	T	0.186	T	0.566	2.034	12.76	1.97	0.532	0.244	7.439	0.265	0.0311769473386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.024	0.56640	D	1.0	0.90584	D	0.977	0.73820	D	0.192204	0.16817	N	0.633982	0.548114	0.31357	N	2.28	0.64929	M	0.87	0.46412	T	-4.1	0.74900	D	0.654	0.66443	-0.7194	0.59493	T	0.186	0.53586	T	10	0.7827445	0.77990	D	0.031177	0.53322	D	0.265	0.57870	0.639	0.77579	0.297718772494	0.29385	0.6603939099748367	0.65976	0.448473399191	0.44675	0.346591860056	0.17419	T	0.050694	0.28669	T	-0.0995617	0.36497	T	-0.38079	0.35629	T	0.958781361579895	0.65362	D	0.788921	0.42853	T	0.18984699	0.40543	0.18631491	0.41797	0.18984699	0.40543	0.18631491	0.41796	-7.452	0.57272	T	.	.	0.454	0.62391	A	.	.	2.175445	0.27729	17.56	0.99066417800908524	0.51621	0.33925	0.24946	N	AEFBI	0.196728	0.32369	N	0.0163627433523658	0.42600	2.569802	-0.141860088916075	0.33722	1.932026	0.837755799562903	0.24810	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.14	1.97	0.25278	0.051000	0.14025	0.449000	0.18503	0.599000	0.40250	0.003000	0.16062	0.050000	0.21810	0.218000	0.22407	0.0:0.5872:0.3228:0.09	7.439	0.26344	410	0.82135	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1517.98	42	chr1	24093064	.	C	A	1517.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.131e+00;DP=951;ExcessHet=0.0000;FS=0.602;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.92;ReadPosRankSum=-9.000e-01;SOR=0.801	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr1	24337749	24337749	C	G	exonic	GRHL3	.	nonsynonymous SNV	GRHL3:NM_001195010:exon6:c.C662G:p.A221G	Van der Woude syndrome 2, Autosomal dominant	.	426	1086	9	1	0	11	0.00503894	.	.	685680	Isolated_cleft_palate|Van_der_Woude_syndrome_2	MONDO:MONDO:0007336,MedGen:C1837218,OMIM:119540,Orphanet:2014|MONDO:MONDO:0011712,MedGen:C1847604,OMIM:606713,Orphanet:888	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.79	T	0.0	B	0.003	B	0.000	D	1.000	N	-0.685	N	2.19	T	-0.971	T	0.004	T	0.124	0.043	4.237	5.04	2.828	1.355	8.768	0.051	.	0.0075	0.0117812	0.0045	0.0263	0.0015	0.0030	0	0.0002	0.0022	0.0128	0.0041073	635	154602	rs34593559	0.0017	0.0017	0.0013	0.0020	0.0251	0.0016	0.0016	0.0237	0.0231	0.0251	0.0019	0	0.0023	0	0.0023	4.317e-05	0.0028	0.0137	0.0073	0.0073	0.0071	0.0076	0.0229	0.0069	0.0068	0.0217	0.0212	0.0229	0	0.0038	0	0.0023	0	0.0068	8.818e-05	0.0057	0.0145	1.0	0.00964	T	1.0	0.02624	T	0.0	0.02946	B	0.002	0.06944	B	0.000091	0.51296	D	0.172251	0.999529	0.21047	N	-1.345	0.00668	N	2.19	0.18724	T	1.33	0.00961	N	0.114	0.11197	-0.9714	0.36904	T	0.004	0.01435	T	10	0.0021779835	0.00031	T	.	.	.	0.051	0.14325	.	.	0.043077524339	0.03247	0.2881507299212878	0.28728	0.366772258231	0.38245	0.420930802822	0.27964	T	0.085427	0.37500	T	-0.629688	0.00096	T	-0.658355	0.08378	T	0.00889315798034069	0.00110	T	0.770023	0.39993	T	0.0995635	0.23498	0.1000692	0.23914	0.109806836	0.25960	0.07888061	0.17706	-3.493	0.16883	T	0.06528377698044167	0.02142	0.066	0.03443	B	.;.;.;.	.;.;.;.	1.930511	0.24519	16.43	0.42646602101117831	0.03158	0.32589	0.24622	N	AEFBHI	0.118829	0.23220	N	-0.472235634748299	0.22993	1.231661	-0.208493035918403	0.31229	1.765467	0.999616398754146	0.40981	0.653281	0.48532	0	0.627178	0.54094	0	0.675528	0.61593	0	0.542086	0.14980	0	.	.	5.97	5.04	0.67293	0.983000	0.29150	0.781000	0.21481	0.599000	0.40250	0.573000	0.27530	0.235000	0.23811	0.998000	0.85391	0.1284:0.6299:0.2416:0.0	8.768	0.33872	814	0.42100	.;CP2 transcription factor;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1512.98	39	chr1	24337749	.	C	G	1512.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.500e+00;DP=868;ExcessHet=0.0000;FS=0.620;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.36;ReadPosRankSum=-5.200e-01;SOR=0.796	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1230	20	0	1	0
chr1	24379817	24379817	G	A	exonic	STPG1	.	stopgain	STPG1:NM_178122:exon4:c.C157T:p.R53X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	2.537	14.44	3.83	0.710	2.419	11.294	.	.	.	.	1.655e-05	0	0	0.0001	0	0	0	6.088e-05	1.29e-05	2	154602	rs764327921	3.421e-06	4.104e-06	5.446e-06	1.375e-06	7.559e-05	1e-06	7.3e-07	2.004e-05	1.055e-05	0	0	0	7.559e-05	0	0	8.995e-07	0	1.16e-05	1.314e-05	1.97e-05	0	2.691e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000004	0.62929	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.339	0.38027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250437	0.78644	D	0.291087	0.87740	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.;.	High;High;.;.	7.935155	0.97008	36	0.99457974443561847	0.65633	0.51683	0.28953	D	AEFDGBCIJ	0.106319	0.21216	N	0.326551813852914	0.57513	3.919098	0.0787077179066211	0.43481	2.648833	0.999998857124379	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.79	3.83	0.43287	2.431000	0.44433	3.828000	0.39982	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.007000	0.07825	0.0:0.0:0.6687:0.3313	11.294	0.48502	756	0.51065	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	532.98	24	chr1	24379817	.	G	A	532.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.280;DP=646;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.74;ReadPosRankSum=-4.790e-01;SOR=0.765	GT:AD:DP:GQ:PL	0/0:32,0:32:90:0,90,1350	20	0	1	0
chr1	24401345	24401345	G	A	exonic	STPG1	.	nonsynonymous SNV	STPG1:NM_001199012:exon2:c.C44T:p.P15L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.004	B	0.003	B	0.065	N	1.000	N	.	.	.	.	-1.014	T	0.076	T	0.024	-0.621	1.243	-0.576	-0.098	0.062	2.775	0.007	0.00432096741897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.29158	T	0.295	0.20680	T	0.003	0.11197	B	0.003	0.08700	B	0.065375	0.02188	N	2.169780	1	0.08975	N	.	.	.	.	.	.	-0.89	0.24026	N	0.155	0.16028	-1.0142	0.25593	T	0.076	0.30645	T	8	0.056228608	0.06270	T	0.004321	0.10498	T	0.007	0.00512	0.156	0.05964	0.0666544352282	0.05500	0.22531329309969544	0.22446	0.169743795167	0.19140	0.25752055645	0.04600	T	0.006037	0.05478	T	-0.222377	0.17669	T	-0.557205	0.16640	T	0.0602605864405632	0.07210	T	0.531447	0.17660	T	0.030617815	0.02756	0.01821541	0.00049	0.030617815	0.02755	0.01821541	0.00049	-3.113	0.11446	T	.	.	0.080	0.07554	B	.;.	.;.	0.169857	0.05591	2.045	0.2034670914663354	0.00728	0.02158	0.06340	N	AEFGBI	0.041318	0.06266	N	-1.09876659058342	0.06667	0.3075268	-1.19144497038589	0.06052	0.2901584	0.934272160087589	0.27164	0.736574	0.97449	0	0.633656	0.55848	0	0.732669	0.93749	0	0.655142	0.61905	0	.	.	3.58	-0.576	0.11143	-0.070000	0.11483	0.749000	0.21222	-0.135000	0.12811	0.000000	0.06391	0.003000	0.18671	0.002000	0.04165	0.3578:0.0:0.4276:0.2145	2.775	0.05017	725	0.54935	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1410.98	37	chr1	24401345	.	G	A	1410.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=846;ExcessHet=0.0000;FS=0.643;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=0.714;SOR=0.767	GT:AD:DP:GQ:PL	0/1:73,59:132:99:1425,0,1779	20	0	1	0
chr1	24669337	24669337	C	G	exonic	SRRM1	.	nonsynonymous SNV	SRRM1:NM_001366584:exon13:c.C1699G:p.R567G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.996	D	0.992	D	0.000	D	1.000	D	1.59	L	1.39	T	-0.799	T	0.208	T	0.688	3.927	19.98	5.85	2.767	6.904	20.154	0.196	0.0162432211669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.014	0.74150	D	0.798	0.44840	P	0.174	0.35540	B	0.000007	0.62929	D	0.000000	0.999999	0.58761	D	2.42	0.70002	M	1.39	0.33842	T	-2.82	0.59545	D	0.561	0.60241	-0.7990	0.55203	T	0.208	0.56717	T	10	0.5612998	0.64802	D	0.016243	0.37399	T	0.196	0.47777	.	.	0.24933006939	0.24537	0.2817500770420523	0.28088	0.471874428861	0.46435	0.612102866173	0.54613	T	0.252546	0.62295	T	0.0713362	0.61011	D	-0.135307	0.60522	T	0.968237996101379	0.68175	D	0.905309	0.67274	D	0.32374224	0.54954	0.5817143	0.75752	0.32374224	0.54954	0.5817143	0.75753	-6.43	0.49744	T	.	.	0.454	0.64709	A	.;.;.;.	.;.;.;.	4.363964	0.67135	25.1	0.99519280340743144	0.69161	0.99405	0.95607	D	AEFDGBI	0.906235	0.85875	D	0.623172591966422	0.74641	6.16759	0.682434138118654	0.81047	7.435987	0.999999999999375	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.85	5.85	0.93663	7.178000	0.77202	4.005000	0.41109	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.921000	0.45669	0.0:1.0:0.0:0.0	20.154	0.98100	713	0.56348	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	125.98	33	chr1	24669337	.	C	G	125.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.111e+00;DP=1001;ExcessHet=0.0000;FS=272.753;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.57;ReadPosRankSum=1.83;SOR=8.121	GT:AD:DP:GQ:PL	0/1:167,54:224:99:140,0,2863	20	0	1	0
chr1	24964531	24964531	G	A	exonic	RUNX3	.	nonsynonymous SNV	RUNX3:NM_001031680:exon1:c.C41T:p.S14L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.938	P	0.358	B	0.595	N	1.000	D	0.55	N	-4.2	D	0.500	D	0.772	D	0.187	2.433	14.09	5.67	2.677	5.755	15.283	0.405	0.046325010921	.	.	.	.	.	.	.	.	.	.	.	.	.	rs896082468	3.426e-06	5.472e-06	2.726e-06	4.133e-06	5.049e-05	1e-06	7.3e-07	8.37e-06	3.13e-06	0	0	0	5.049e-05	1.88e-05	0	1.8e-06	0	0	6.57e-06	6.566e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.418e-05	0	0	0	0	0.065	0.36310	T	0.418	0.14200	T	0.938	0.52538	P	0.358	0.43079	B	0.594662	0.11016	N	0.738391	0.906762	0.27591	N	.	.	.	-4.2	0.96934	D	-0.87	0.23590	N	0.362	0.49055	0.500	0.90549	D	0.772	0.92245	D	10	0.32341564	0.49679	T	0.046325	0.62405	D	0.405	0.71791	0.153	0.05648	0.621544763488	0.61847	0.5215621762343728	0.52079	1.19044954112	0.80269	.	.	.	.	.	.	0.0861548	0.62753	D	-0.114021	0.62290	T	0.966047942638397	0.67458	D	0.794521	0.43681	T	.	.	.	.	.	.	.	.	-3.956	0.23143	T	.	.	0.201	0.42506	B	.;.	.;.	4.043688	0.59881	24.2	0.99620491263715549	0.75413	0.93977	0.59744	D	AEFGBHCI	0.538718	0.55599	D	0.161863953790473	0.49374	3.138621	0.295822925735127	0.55294	3.692674	0.999999999968101	0.74766	0.497415	0.19182	0	0.52208	0.09955	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.67	5.67	0.87673	6.230000	0.72251	9.972000	0.82868	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.705000	0.34296	0.0:0.0:1.0:0.0	15.283	0.73498	606	0.67383	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1681.98	48	chr1	24964531	.	G	A	1681.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=918;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.49;ReadPosRankSum=-1.935e+00;SOR=0.750	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,114,1736	20	0	1	0
chr1	25246525	25246525	A	G	exonic	RSRP1	.	nonsynonymous SNV	RSRP1:NM_001321772:exon2:c.T439C:p.Y147H	.	.	424	1073	22	3	0	28	0.0128795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.997	D	0.041	N	0.684	N	1.79	L	1.39	T	-0.605	T	0.190	T	0.428	5.168	32	4.43	1.984	4.869	11.837	0.160	0.0096235493379	0.0058	0.00259585	0.0062	0.0013	0.0041	0	0.0030	0.0087	0.0033	0.0050	0.0062095	960	154602	rs34619962	0.0078	0.0078	0.0079	0.0077	0.0088	0.0076	0.0076	0.0087	0.0086	0.0009	0.0040	0.0093	0	0.0034	0.0066	0.0088	0.0076	0.0048	0.0049	0.0049	0.0053	0.0044	0.0078	0.0046	0.0045	0.0072	0.0070	0.0011	0.0011	0.0036	0.0118	0	0.0040	0.0034	0.0078	0.0052	0.0029	0.0	0.91255	D	0.516	0.10607	T	0.999	0.77913	D	0.997	0.86255	D	0.040851	0.24013	N	0.207223	0.684043	0.30252	N	1.935	0.51832	L	1.39	0.50976	T	-4.09	0.77143	D	0.557	0.58202	-0.6046	0.64627	T	0.190	0.54123	T	10	0.009093285	0.00206	T	0.009624	0.25153	T	0.160	0.41473	.	.	0.238096912614	0.23440	0.1587885378612421	0.15799	2.17131033113	0.95510	.	.	.	0.074899	0.35049	T	-0.367962	0.03699	T	-0.295355	0.45214	T	0.034722897999833	0.02761	T	0.842016	0.51794	T	0.65391976	0.75573	0.6518422	0.79626	0.65391976	0.75575	0.6518422	0.79627	-4.314	0.30042	T	.	.	0.262	0.54918	B	.;.	.;.	3.520469	0.49340	22.8	0.99682362062154006	0.79373	0.95739	0.65948	D	AEFDGBHCI	0.591339	0.58747	D	0.42953364775547	0.63054	4.531812	0.331682890683542	0.57411	3.906667	0.999999999999005	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.43	4.43	0.52967	4.757000	0.61910	0.734000	0.21109	-0.042000	0.17409	0.997000	0.40164	0.003000	0.18671	0.018000	0.11154	1.0:0.0:0.0:0.0	11.837	0.51605	815	0.41851	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2390.98	40	chr1	25246525	.	A	G	2390.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=897;ExcessHet=0.0000;FS=1.151;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.99;ReadPosRankSum=-6.550e-01;SOR=0.573	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	20	0	1	0
chr1	25301582	25301582	G	C	exonic	RHD	.	nonsynonymous SNV	RHD:NM_001127691:exon5:c.G697C:p.E233Q	.	.	520	1000	2	0	0	2	0.000999001	.	.	204995	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	0.47	T	0.999	D	0.998	D	0.660	N	1.000	N	1.065	L	1.95	T	-1.060	T	0.004	T	0.158	0.749	7.971	2.9	1.462	2.309	9.111	0.049	.	0.0044	0.071885	0.0017	0.0165	0.0010	0.0001	0.0003	8.834e-05	0	0.0003	0.0046442	718	154602	rs1053359	0.0005	0.0006	0.0006	0.0004	0.0135	0.0005	0.0005	0.0124	0.0120	0.0135	0.0016	0	0.0003	0	0.0010	4.333e-05	0.0015	7.45e-05	0.0043	0.0052	0.0045	0.0041	0.0137	0.0040	0.0039	0.0127	0.0123	0.0137	0	0.0023	0	0.0008	0	0	7.145e-05	0.0016	0.0005	0.205	0.20154	T	0.195	0.28032	T	0.062	0.77913	B	0.281	0.88582	B	0.660235	0.10434	N	0.859558	1	0.08975	N	1.5	0.37844	L	1.95	0.22474	T	-1.68	0.40082	N	0.263	0.34120	-1.0605	0.11632	T	0.004	0.01226	T	10	0.004635632	0.00097	T	.	.	.	0.049	0.13647	.	.	0.107399877778	0.10242	0.28830555766175875	0.28743	0.198620745402	0.22241	0.420844733715	0.27952	T	0.003234	0.02636	T	-0.571155	0.00218	T	-0.580877	0.14466	T	0.00831160482685251	0.00100	T	0.724828	0.33863	T	0.13702348	0.31743	0.08801503	0.20495	0.12909038	0.30160	0.092419095	0.21779	-5.006	0.39685	T	0.4028133306081099	0.49435	0.09	0.26762	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.629407	0.20803	14.92	0.88729452986511348	0.18208	0.15426	0.18906	N	AEFGBI	0.222883	0.34731	N	-0.584269614534565	0.19422	1.016364	-0.651315912296865	0.18184	0.9702479	0.00733175581229321	0.11441	0.554377	0.28877	0	0.588066	0.40923	0	0.536957	0.11973	0	0.564101	0.26826	0	.	.	2.9	2.9	0.32809	0.858000	0.27500	2.404000	0.32608	0.325000	0.19437	0.017000	0.19353	0.922000	0.28345	0.084000	0.17470	0.0:0.0:1.0:0.0	9.111	0.35889	846	0.36215	Ammonium transporter AmtB-like domain;.;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;.;.;Ammonium transporter AmtB-like domain;.;Ammonium transporter AmtB-like domain	.	.	.	.	chr1:25628073	Benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.025	1344.33	42	chr1	25301582	.	G	C	1344.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=3.23;DP=825;ExcessHet=0.0000;FS=4.941;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=49.04;MQRankSum=-7.042e+00;QD=8.56;ReadPosRankSum=-1.089e+00;SOR=1.092	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	19	0	1	1
chr1	25306681	25306681	T	C	exonic	RHD	.	nonsynonymous SNV	RHD:NM_001282867:exon7:c.T527C:p.I176T	.	.	511	1009	2	0	0	2	0.000990099	.	.	198600	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	0.26	T	0.003	B	0.01	B	0.232	N	1.000	N	-0.975	N	1.97	T	-0.982	T	0.003	T	0.096	-0.862	0.522	-2.18	-0.362	-1.322	6.445	0.005	0.001248172493	0.0020	0.00119808	0.0006	0.0060	0.0004	0	0	1.767e-05	0	0	0.0001153	3	26028	rs138235491	0.0003	0.0003	0.0004	0.0003	0.0091	0.0003	0.0003	0.0082	0.0079	0.0091	0.0009	0	0	0	0.0010	2.166e-05	0.0010	0.0002	0.0022	0.0023	0.0022	0.0022	0.0071	0.0020	0.0019	0.0064	0.0061	0.0071	0	0.0010	0	0	0	0	1.798e-05	0.0006	0.0002	1.0	0.10945	T	0.501	0.14326	T	0.0	0.02946	B	0.001	0.04355	B	0.232003	0.15900	N	0.673356	1	0.08975	N	-1.2	0.00838	N	1.97	0.22067	T	1.17	0.02297	N	0.158	0.17416	-0.9824	0.34445	T	0.003	0.00864	T	10	0.005736381	0.00128	T	0.001248	0.01683	T	0.005	0.00259	.	.	0.0482279557977	0.04254	0.19556217122171632	0.19473	0.108913365642	0.12281	0.288580775261	0.08716	T	0.002617	0.02004	T	-0.508	0.00515	T	-0.761978	0.03042	T	0.00142547449042624	0.00014	T	0.442056	0.14032	T	0.018914966	0.00415	0.048120636	0.07080	0.02382468	0.01155	0.049260736	0.07489	-2.555	0.19732	T	0.06363026936898165	0.01969	0.069	0.13409	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.595988	0.01583	0.106	0.40456982515304901	0.02856	0.00080	0.00545	N	AEFGBI	0.054965	0.10039	N	-1.78885232172401	0.00573	0.02467995	-1.79808799506327	0.00765	0.0341294	6.91524004528068E-5	0.04366	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	2.48	-2.18	0.06643	-1.308000	0.02839	-1.121000	0.06268	-0.702000	0.04048	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:0.4095:0.0:0.5905	6.445	0.21071	878	0.29785	Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;.;Ammonium transporter AmtB-like domain;.;Ammonium transporter AmtB-like domain	.	.	.	.	rs138235491	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.05	2230.8	33	chr1	25306681	.	T	C	2230.8	.	AC=2;AF=0.050;AN=40;DP=733;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.050;MQ=60.00;QD=32.33;SOR=0.910	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1024	19	1	0	1
chr1	25321924	25321924	C	A	exonic	RHD	.	nonsynonymous SNV	RHD:NM_001282867:exon9:c.C691A:p.H231N	.	.	561	959	2	0	0	2	0.00104167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.947	P	0.577	P	.	.	1.000	N	2.125	M	2.27	T	-1.039	T	0.048	T	0.144	1.208	9.906	0.383	-0.017	-0.082	3.678	0.055	0.00254051477704	.	.	2.816e-05	0	0	0	0	1.804e-05	0	0.0001	1.94e-05	3	154602	rs768918814	8.294e-06	1.511e-05	6.637e-06	9.949e-06	0.0002	4.19e-06	3.06e-06	4.033e-05	2.834e-05	0	0	0	0	0	0.0002	1.128e-06	1.936e-05	8.763e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.29288	T	0.493	0.11443	T	0.947	0.53479	P	0.577	0.50090	P	.	.	.	.	1	0.08975	N	2.3	0.65703	M	2.27	0.17431	T	-2.05	0.47008	N	0.401	0.44187	-1.0391	0.17587	T	0.048	0.20632	T	9	0.1642071	0.30727	T	0.002541	0.05093	T	0.055	0.15663	0.442	0.49811	0.0401082797425	0.02173	.	.	0.292392038772	0.31654	0.341399729252	0.16648	T	0.005655	0.05100	T	-0.430386	0.01474	T	-0.65049	0.08919	T	0.201585203409195	0.20502	T	0.916508	0.70155	D	0.054455295	0.10451	0.0427518	0.05165	0.049525507	0.08805	0.0581999	0.10712	-4.007	0.23909	T	0.42897852459056496	0.51643	0.100	0.17232	B	.	.	0.878187	0.12511	9.043	0.90593185964948486	0.19847	0.01849	0.05720	N	AEFBI	0.100102	0.20136	N	-0.604619758385686	0.18804	0.9792417	-0.85436441206232	0.13184	0.6824893	5.30438449575536E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.52	0.383	0.15462	0.094000	0.14946	0.811000	0.21752	0.284000	0.18682	0.000000	0.06391	0.093000	0.22564	0.057000	0.15750	0.0:0.5775:0.2593:0.1632	3.678	0.07834	894	0.26265	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	2584.33	196	chr1	25321924	.	C	A	2584.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.401e+00;DP=900;ExcessHet=0.0000;FS=10.793;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=59.83;MQRankSum=-8.110e-01;QD=13.19;ReadPosRankSum=0.312;SOR=0.309	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1075	19	0	1	1
chr1	25321930	25321930	G	A	exonic	RHD	.	nonsynonymous SNV	RHD:NM_001282867:exon9:c.G697A:p.A233T	.	.	567	944	6	5	0	16	0.00840336	.	.	2812483	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.53	T	0.195	B	0.065	B	.	.	1.000	N	1.155	L	2.24	T	-0.963	T	0.018	T	0.094	0.400	6.172	-2.49	-0.784	-0.815	6.514	0.012	0.00167194843163	0.0055	0.00139776	0.0042	0.0005	0.0035	0	0	0.0069	0	0.0013	0.0035834	554	154602	rs150059028	0.0056	0.0059	0.0057	0.0054	0.0160	0.0054	0.0054	0.0133	0.0122	0.0009	0.0045	0.0008	0	0.0003	0.0160	0.0068	0.0042	0.0009	0.0042	0.0043	0.0045	0.0040	0.0079	0.0040	0.0038	0.0073	0.0071	0.0007	0.0120	0.0043	0.0010	0	0.0001	0.0363	0.0079	0.0038	0.0011	0.381	0.11156	T	0.606	0.07791	T	0.195	0.29512	B	0.065	0.27321	B	.	.	.	.	1	0.08975	N	1.74	0.45129	L	2.24	0.17923	T	-0.49	0.15578	N	0.137	0.13484	-0.9627	0.38664	T	0.018	0.07565	T	9	0.009203434	0.00208	T	0.001672	0.02753	T	0.012	0.01476	.	.	0.0401082797425	0.02173	.	.	0.13233277982	0.14917	0.298501372337	0.10178	T	0.001847	0.01261	T	-0.682146	0.00047	T	-0.747786	0.03573	T	0.00249023138695016	0.00026	T	0.710029	0.32075	T	0.026662363	0.01752	0.056285452	0.10028	0.024732655	0.01335	0.06271814	0.12315	-4.096	0.25231	T	0.2217239663728352	0.29907	0.083	0.09433	B	.	.	-0.394838	0.02232	0.226	0.55583074485088868	0.05372	0.00769	0.03173	N	AEFGBI	0.062290	0.11963	N	-1.24185593871827	0.04408	0.198871	-1.37664646512064	0.03502	0.1635011	5.54625796185507E-4	0.07304	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.52	-2.49	0.06034	-0.634000	0.05575	-0.250000	0.10515	0.318000	0.19305	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.5587:0.0:0.4413:0.0	6.514	0.21436	894	0.26265	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	1686.33	35	chr1	25321930	.	G	A	1686.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-7.140e-01;DP=899;ExcessHet=0.0000;FS=0.533;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=58.75;MQRankSum=-3.033e+00;QD=8.65;ReadPosRankSum=0.532;SOR=0.761	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1075	19	0	1	1
chr1	25388999	25388999	T	C	exonic	RHCE	.	nonsynonymous SNV	RHCE:NM_138617:exon4:c.A601G:p.I201V	Rh-null disease, amorph type (3)	.	419	1100	3	0	0	3	0.00136178	.	.	707283	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.074	B	0.047	B	0.068	N	0.998	D	0.385	N	2.05	T	-1.034	T	0.022	T	0.243	-0.551	1.503	2.48	0.791	0.015	7.030	0.046	0.00633095839507	0.0008	.	0.0005	0.0041	0.0008	0	0	0.0001	0	0.0001	0.0001921	5	26028	rs1132765	0.0003	0.0003	0.0003	0.0002	0.0067	0.0003	0.0003	0.0059	0.0057	0.0067	0.0011	0	2.519e-05	1.872e-05	0.0005	8.813e-05	0.0007	0.0001	0.0018	0.0018	0.0017	0.0019	0.0056	0.0016	0.0016	0.0050	0.0048	0.0056	0	0.0020	0	0	0	0	0.0002	0.0005	0.0002	0.717	0.03961	T	1.0	0.04703	T	0.074	0.24142	B	0.047	0.24832	B	0.068270	0.21684	N	0.523749	0.998036	0.44438	D	.	.	.	2.05	0.20664	T	-0.21	0.10308	N	0.144	0.19593	-1.0345	0.19014	T	0.022	0.09467	T	10	0.005934	0.00133	T	0.006331	0.16639	T	0.046	0.12618	.	.	0.110392049598	0.10638	0.06811926200585638	0.06749	0.25259744787	0.27827	0.255571097136	0.04377	T	.	.	.	-0.582558	0.00186	T	-0.605575	0.12347	T	0.00542456866298858	0.00059	T	0.568443	0.20183	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.07697	B	.;.;.;.;.	.;.;.;.;.	0.500888	0.08699	5.472	0.65236316053382504	0.07716	0.07117	0.13143	N	AEFDGI	0.095052	0.19211	N	-0.822561852315411	0.12735	0.6226619	-0.690753749101257	0.17191	0.9129963	7.32118626142012E-5	0.04552	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.91	2.48	0.29194	-0.292000	0.08368	-0.169000	0.11245	0.602000	0.45918	0.009000	0.18154	0.001000	0.17328	0.972000	0.54974	0.0:0.1982:0.0:0.8018	7.030	0.24139	892	0.26670	Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1431.98	36	chr1	25388999	.	T	C	1431.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.323e+00;DP=854;ExcessHet=0.0000;FS=2.875;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.06;MQRankSum=-1.760e+00;QD=9.18;ReadPosRankSum=0.153;SOR=0.978	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1223	20	0	1	0
chr1	25390838	25390838	T	C	exonic	RHCE	.	nonsynonymous SNV	RHCE:NM_001330430:exon5:c.A712G:p.M238V	Rh-null disease, amorph type (3)	.	425	1094	3	0	0	3	0.00136924	.	.	707284	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.346	N	0.999	N	-2.72	N	2.05	T	-0.991	T	0.004	T	0.145	-1.809	0.009	-4.0	-1.156	-1.317	4.862	0.057	.	0.0032	0.00419329	0.0013	0.0130	0.0003	0	0	8.99e-05	0.0011	0.0010	0.0012419	192	154602	rs144163296	0.0005	0.0005	0.0005	0.0004	0.0121	0.0004	0.0004	0.0112	0.0108	0.0121	0.0008	3.826e-05	7.557e-05	0	0.0007	6.475e-05	0.0012	0.0010	0.0032	0.0033	0.0033	0.0031	0.0110	0.0030	0.0029	0.0102	0.0099	0.0110	0	0.0011	0	0	0	0	8.819e-05	0.0019	0.0017	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.345513	0.13897	N	0.698537	1	0.22000	N	.	.	.	2.05	0.20664	T	1.76	0.00621	N	0.081	0.05799	-0.9914	0.32244	T	0.004	0.01400	T	10	0.005721599	0.00127	T	.	.	.	0.057	0.16321	.	.	0.151262610727	0.14761	0.1613172027514637	0.16052	0.301826712616	0.32518	0.35189974308	0.18201	T	.	.	.	-0.675839	0.00051	T	-0.734178	0.04141	T	0.00425271534305615	0.00045	T	0.422258	0.11242	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00080	B	.;.;.;.	.;.;.;.	-1.503463	0.00293	0.005	0.30420393131976675	0.01663	0.00233	0.01302	N	AEFDGI	0.075218	0.15099	N	-2.07399304070336	0.00146	0.006251161	-1.99267885322195	0.00317	0.01401101	8.6322821071111E-5	0.04703	0.549168	0.22868	0	0.610034	0.51514	0	0.491513	0.07944	0	0.616125	0.45549	0	.	.	4.08	-4.0	0.03787	-0.968000	0.03928	-2.682000	0.03472	-0.928000	0.02159	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.2612:0.214:0.0:0.5248	4.862	0.12947	885	0.28214	Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1141.98	33	chr1	25390838	.	T	C	1141.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.510e-01;DP=945;ExcessHet=0.0000;FS=17.497;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.04;MQRankSum=-1.266e+01;QD=6.64;ReadPosRankSum=1.85;SOR=1.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485	20	0	1	0
chr1	25557205	25557205	G	A	exonic	LDLRAP1	.	nonsynonymous SNV	LDLRAP1:NM_015627:exon4:c.G397A:p.A133T,	Hypercholesterolemia, familial, autosomal recessive	.	.	.	.	.	.	.	.	.	.	627722	Hypercholesterolemia,_familial,_4|Familial_hypercholesterolemia|LDLRAP1-related_disorder	MONDO:MONDO:0011374,MedGen:C1863512,OMIM:603813,Orphanet:391665|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|.	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.46	T	0.441	B	0.299	B	0.000	D	1.000	D	1.935	M	-0.07	T	-0.741	T	0.261	T	0.496	4.021	20.6	5.61	2.648	9.452	18.627	0.338	0.0342710146987	.	.	1.648e-05	9.614e-05	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs529005321	1.779e-05	1.779e-05	1.906e-05	1.65e-05	0.0004	1.237e-05	1.051e-05	0.0002	0.0002	0.0004	0	0	0	0	0	3.597e-06	8.279e-05	4.637e-05	7.882e-05	7.875e-05	8.996e-05	6.717e-05	0.0002	4.495e-05	3.511e-05	0.0001	8.436e-05	0.0002	0	0	0	0	0	0.0034	1.47e-05	0.0005	0	0.038	0.42783	D	0.103	0.38305	T	0.441	0.35913	B	0.299	0.41006	B	0.000012	0.62929	D	0.148806	1	0.81001	D	1.425	0.35738	L	-0.07	0.63738	T	-2.65	0.56787	D	0.725	0.72656	-0.7405	0.58427	T	0.261	0.63219	T	10	0.5974854	0.66724	D	0.034271	0.55559	D	0.338	0.66010	.	.	0.715672324379	0.71317	0.5298910218170918	0.52913	0.376120761263	0.39054	0.58466553688	0.50742	T	0.284919	0.65770	T	-0.183618	0.23198	T	-0.195554	0.55067	T	0.344345241785049	0.26796	T	0.928707	0.73770	D	0.3102024	0.53803	0.34336546	0.60049	0.3102024	0.53803	0.34336546	0.60049	-11.615	0.82925	D	0.25368589667276104	0.34315	0.155	0.34405	B	.	.	4.942221	0.81574	27.6	0.99864054047213258	0.94184	0.96725	0.70606	D	AEFDGBCI	0.900358	0.84580	D	0.298609902739295	0.56078	3.772109	0.385164508618329	0.60650	4.254893	1.0	0.98316	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.61	5.61	0.85347	9.578000	0.97357	11.791000	0.96374	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.806000	0.37994	0.0:0.0:1.0:0.0	18.627	0.91299	594	0.68584	PTB/PI domain|PTB/PI domain|PTB/PI domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1581.98	34	chr1	25557205	.	G	A	1581.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.676;DP=884;ExcessHet=0.0000;FS=6.612;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.69;ReadPosRankSum=-1.504e+00;SOR=1.160	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr1	25563142	25563142	C	A	exonic	LDLRAP1	.	nonsynonymous SNV	LDLRAP1:NM_015627:exon6:c.C605A:p.S202Y,	Hypercholesterolemia, familial, autosomal recessive	YES	1	1509	12	0	0	12	0.0039604	.	.	19815	Familial_hypercholesterolemia|not_specified|Hypercholesterolemia,_familial,_4	MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:CN169374|MONDO:MONDO:0011374,MedGen:C1863512,OMIM:603813,Orphanet:391665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.991	D	0.885	P	0.252	N	0.000	A	2.005	M	0.34	T	-0.483	T	0.253	T	0.131	3.054	16.19	3.65	0.824	0.623	6.553	0.098	0.0801955060383	.	0.00159744	0.0012	0.0029	0.0026	0	0	0.0011	0.0034	0.0005	0.0010026	155	154602	rs121908326	0.0008	0.0008	0.0007	0.0008	0.0102	0.0007	0.0007	0.0082	0.0074	0.0030	0.0023	0.0031	0	0	0.0102	0.0005	0.0017	0.0006	0.0016	0.0017	0.0015	0.0018	0.0032	0.0015	0.0014	0.0027	0.0026	0.0032	0	0.0023	0.0014	0	0	0.0136	0.0009	0.0038	0.0015	0.01	0.56456	D	0.019	0.59159	D	0.974	0.57829	D	0.736	0.55529	P	0.251599	0.15498	N	0.673517	2.3949e-08	0.08975	A	2.105	0.58435	M	0.34	0.58176	T	-2.47	0.53898	N	0.36	0.40164	-0.4832	0.69252	T	0.253	0.62292	T	9	0.15271023	0.28839	T	0.080196	0.73407	D	0.098	0.28162	.	.	0.709925836417	0.70739	0.31660069560800125	0.31573	0.41760807969	0.42376	0.328747093678	0.14745	T	0.378373	0.74136	T	-0.494866	0.00611	T	-0.485407	0.23874	T	0.0185350502983893	0.00569	T	0.562644	0.19782	T	0.0788591	0.17983	0.08232798	0.18780	0.07735178	0.17550	0.09610253	0.22821	-6.873	0.53100	T	0.5453829937669651	0.61455	0.104	0.18869	B	.	.	2.329097	0.29836	18.25	0.98926678021605186	0.48657	0.07244	0.13268	N	AEFDBI	0.070493	0.13996	N	-0.123987220858582	0.36349	2.099917	-0.314463246413492	0.27632	1.53461	0.999994984250148	0.74766	0.646311	0.45356	0	0.71359	0.82159	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.51	3.65	0.40985	0.592000	0.23685	1.138000	0.24381	0.586000	0.30580	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6771:0.1588:0.1641	6.553	0.21640	590	0.68897	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1388.98	35	chr1	25563142	.	C	A	1388.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.639e+00;DP=1350;ExcessHet=0.0000;FS=0.886;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.73;ReadPosRankSum=-2.260e-01;SOR=0.895	GT:AD:DP:GQ:PL	0/0:82,0:82:99:0,120,1800	20	0	1	0
chr1	25618104	25618104	C	T	exonic	MAN1C1	.	nonsynonymous SNV	MAN1C1:NM_001289010:exon1:c.C307T:p.R103C	.	.	.	.	.	.	.	.	.	.	.	3277895	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.824	P	0.083	B	0.222	N	1.000	D	0.345	N	-1.75	D	-0.596	T	0.296	T	0.222	2.733	15.10	3.12	2.018	2.692	9.973	0.292	0.198435363842	.	0.000199681	0.0008	0	0	0	0	0	0	0.0014	6.47e-05	10	154602	rs564755166	3.232e-05	3.42e-05	1.886e-05	4.614e-05	0.0003	2.45e-05	2.182e-05	0.0002	0.0002	3.555e-05	0	0	0	0	0	1.307e-05	7.056e-05	0.0003	1.314e-05	1.312e-05	1.285e-05	1.344e-05	0.0004	2.18e-06	8.2e-07	7.287e-05	3.028e-05	0	0	0	0	0	0	0	0	0	0.0004	0.023	0.48186	D	0.032	0.53426	D	0.824	0.45836	P	0.083	0.29179	B	0.221935	0.03460	N	1.661120	1	0.81001	D	1.245	0.31408	L	-1.75	0.83495	D	-1.54	0.37375	N	0.21	0.23380	-0.5956	0.64996	T	0.296	0.66764	T	10	0.061229587	0.07643	T	0.198435	0.86595	D	0.292	0.61157	0.427	0.47350	0.82404967353	0.82238	0.439938459450349	0.43910	1.04360297355	0.75885	0.81540286541	0.84322	D	0.023138	0.17715	T	-0.285082	0.10137	T	-0.271432	0.47674	T	0.295560598373413	0.24820	T	0.718628	0.33152	T	0.13678752	0.31696	0.15687253	0.36708	0.13678752	0.31696	0.15687253	0.36707	-8.59	0.65023	D	.	.	0.209	0.43599	B	.	.	3.819754	0.55149	23.6	0.99714743270109008	0.81633	0.40236	0.26392	N	AEFDBI	0.285451	0.39808	N	-0.394538499652317	0.25662	1.394761	-0.440944654090272	0.23807	1.300213	0.999999997215196	0.74766	0.455138	0.09556	0	0.491552	0.07993	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	3.12	3.12	0.34986	4.144000	0.57825	5.796000	0.49904	0.549000	0.26987	0.038000	0.20882	1.000000	0.68203	0.395000	0.26670	0.0:1.0:0.0:0.0	9.973	0.40934	612	0.66786	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	792.98	38	chr1	25618104	.	C	T	792.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.95;DP=786;ExcessHet=0.0000;FS=5.208;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.44;ReadPosRankSum=0.372;SOR=0.777	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1294	20	0	1	0
chr1	25780972	25780972	A	C	exonic	MAN1C1	.	nonsynonymous SNV	MAN1C1:NM_001385184:exon5:c.A1006C:p.N336H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.984	D	0.903	P	0.000	D	0.991	D	1.415	L	-0.66	T	-0.480	T	0.323	T	0.119	4.238	22.1	4.01	1.933	7.673	3.125	0.330	0.0397570578463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.123	0.35970	T	0.984	0.60733	D	0.903	0.64103	P	0.000002	0.62929	D	0.055871	0.990904	0.41262	D	1.33	0.33268	L	-0.66	0.72348	T	-1.94	0.45222	N	0.444	0.48504	-0.4803	0.69355	T	0.323	0.69221	T	10	0.66660583	0.70464	D	0.039757	0.58991	D	0.330	0.65226	0.719	0.85408	0.936644741402	0.93599	0.6441623772419003	0.64351	1.04198484188	0.75827	0.480990231037	0.36193	T	0.293318	0.71301	T	-0.0854337	0.38827	T	-0.360496	0.37996	T	0.970012485980988	0.68797	D	0.934407	0.75644	D	0.16778722	0.37196	0.15046144	0.35484	0.16778722	0.37196	0.15046144	0.35483	-7.35	0.56551	T	.	.	0.127	0.26855	B	.;.;.;.	.;.;.;.	4.785333	0.77609	26.7	0.99537715853167119	0.70274	0.98006	0.78815	D	AEFDBIJ	0.950226	0.96365	D	0.573475175855033	0.71523	5.663786	0.573459494427793	0.73044	5.906364	0.999999962189604	0.74766	0.553676	0.25195	0	0.610034	0.51514	0	0.26897	0.05253	2	0.620846	0.47308	0	.	.	5.14	4.01	0.45821	7.784000	0.84325	6.008000	0.52598	0.756000	0.94297	1.000000	0.71638	0.998000	0.33993	0.998000	0.85391	0.608:0.0:0.392:0.0	3.125	0.06018	613	0.66686	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1747.98	35	chr1	25780972	.	A	C	1747.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.384;DP=867;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.73;ReadPosRankSum=1.68;SOR=0.699	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1351	20	0	1	0
chr1	25837515	25837516	GG	-	exonic	AUNIP	.	frameshift deletion	AUNIP:NM_001287490:exon2:c.117_118del:p.L40Sfs*7	.	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0002	0	0	0	0.0002	0.0004	0	6.061e-05	0.0002005	31	154602	rs762902706	0.0007	0.0007	0.0007	0.0007	0.0008	0.0007	0.0007	0.0008	0.0008	0.0002	2.236e-05	0.0008	0	0.0004	0	0.0008	0.0007	0.0002	0.0005	0.0005	0.0006	0.0004	0.0010	0.0004	0.0004	0.0008	0.0008	0.0002	0	0.0001	0.0009	0	9.411e-05	0	0.0010	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	750.94	33	chr1	25837514	.	AGG	A	750.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.501;DP=740;ExcessHet=0.0000;FS=6.267;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.69;ReadPosRankSum=0.183;SOR=0.940	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,105,1223	20	0	1	0
chr1	25837518	25837518	G	-	exonic	AUNIP	.	frameshift deletion	AUNIP:NM_001287490:exon2:c.115delC:p.L39Sfs*65	.	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0002	0	0	0	0.0002	0.0004	0	6.061e-05	1.29e-05	2	154602	rs761229800	0.0007	0.0007	0.0007	0.0007	0.0008	0.0007	0.0007	0.0008	0.0008	0.0002	2.237e-05	0.0008	0	0.0004	0	0.0008	0.0007	0.0002	0.0005	0.0005	0.0006	0.0004	0.0010	0.0005	0.0004	0.0008	0.0008	0.0002	0	0.0001	0.0009	0	9.414e-05	0	0.0010	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	750.94	33	chr1	25837517	.	AG	A	750.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.823;DP=739;ExcessHet=0.0000;FS=6.267;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.69;ReadPosRankSum=0.023;SOR=0.940	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,105,1223	20	0	1	0
chr1	25862859	25862859	G	C	exonic	PAQR7	.	nonsynonymous SNV	PAQR7:NM_178422:exon3:c.C981G:p.I327M,	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.168	B	0.064	B	0.346	N	1.000	N	0.55	N	1.85	T	-1.040	T	0.041	T	0.118	-0.065	3.685	3.9	1.241	0.145	11.066	0.019	0.00567206754193	.	0.000199681	0.0003	0	0	0	0	0.0002	0	0.0013	0.0002458	38	154602	rs536098137	0.0001	0.0001	7.487e-05	0.0001	0.0083	8.713e-05	8.2e-05	0.0064	0.0058	2.987e-05	0	0	0	0	0.0083	2.698e-06	0.0004	0.0008	2.627e-05	2.625e-05	0	5.372e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.106	0.29688	T	0.271	0.22291	T	0.168	0.28654	B	0.064	0.27215	B	0.346029	0.13889	N	0.655337	0.999996	0.08975	N	.	.	.	1.85	0.24472	T	-0.85	0.23156	N	0.056	0.02759	-1.0404	0.17192	T	0.041	0.17573	T	10	0.020640641	0.00479	T	0.005672	0.14681	T	0.019	0.03383	0.366	0.37361	0.156986980423	0.15292	0.4532219717515872	0.45240	0.236423596909	0.26183	0.297255992889	0.09993	T	0.015873	0.13230	T	-0.555594	0.00270	T	-0.611382	0.11873	T	0.026728765206242	0.01507	T	0.216778	0.02717	T	0.0837928	0.19365	0.0751527	0.16515	0.0837928	0.19365	0.0751527	0.16515	-5.6	0.42792	T	.	.	0.083	0.09336	B	.	.	0.597798	0.09663	6.434	0.78728599614246464	0.12427	0.76686	0.37630	D	AEFBI	0.175005	0.30216	N	-0.514532200105607	0.21609	1.148075	-0.430584609654739	0.24104	1.318128	0.999943147608087	0.47345	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.81	3.9	0.44240	0.121000	0.15496	1.762000	0.28561	0.676000	0.76740	0.245000	0.24799	1.000000	0.68203	0.181000	0.21328	0.0873:0.0:0.9127:0.0	11.066	0.47195	724	0.55085	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	920.98	34	chr1	25862859	.	G	C	920.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.26;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.81;ReadPosRankSum=-9.150e-01;SOR=0.703	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1157	20	0	1	0
chr1	25863026	25863026	C	T	exonic	PAQR7	.	nonsynonymous SNV	PAQR7:NM_178422:exon3:c.G814A:p.G272R,	.	.	419	1083	20	0	0	20	0.00914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	2.92	M	1.18	T	-0.483	T	0.203	T	0.988	4.099	21.1	4.28	1.390	5.912	14.899	0.562	.	0.0064	0.00379393	0.0060	0.0017	0.0097	0	0.0012	0.0082	0.0078	0.0020	0.0060219	931	154602	rs6689014	0.0073	0.0072	0.0074	0.0071	0.0084	0.0071	0.0071	0.0082	0.0082	0.0013	0.0074	0.0060	0	0.0022	0.0073	0.0084	0.0065	0.0022	0.0058	0.0058	0.0062	0.0054	0.0089	0.0054	0.0053	0.0083	0.0080	0.0015	0.0022	0.0084	0.0089	0.0002	0.0021	0.0034	0.0089	0.0057	0.0033	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.18	0.37746	T	-7.44	0.94872	D	0.925	0.92901	-0.4835	0.69241	T	0.203	0.55961	T	10	0.01880902	0.00413	T	.	.	.	0.562	0.82061	0.699	0.83592	0.554957464841	0.55154	0.9157431925714192	0.91549	0.938218820823	0.72115	0.681191921234	0.64439	T	0.394838	0.75387	T	-0.0440576	0.45344	T	0.171187	0.81481	D	0.0360575475350243	0.02990	T	0.884911	0.60954	D	0.9543799	0.96711	0.9164612	0.96148	0.9543799	0.96712	0.9164612	0.96149	-11.688	0.83298	D	.	.	0.851	0.79818	P	.	.	5.163742	0.86531	28.9	0.99890492660837893	0.96436	0.97667	0.76276	D	AEFBI	0.733892	0.68019	D	0.558272864835797	0.70586	5.523503	0.479788686155551	0.66652	4.98005	0.999999999801582	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.2	4.28	0.50183	6.151000	0.71589	7.694000	0.65937	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.1446:0.8554:0.0:0.0	14.899	0.70306	724	0.55085	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1553.98	34	chr1	25863026	.	C	T	1553.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=809;ExcessHet=0.0000;FS=2.705;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.02;ReadPosRankSum=0.033;SOR=1.037	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1157	20	0	1	0
chr1	25974613	25974613	C	-	exonic	PAFAH2	.	frameshift deletion	PAFAH2:NM_000437:exon9:c.796delG:p.E266Nfs*28,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	1.5e-05	0	0.0018	0.0002005	31	154602	rs547949556	0.0001	0.0001	5.309e-05	0.0002	0.0019	0.0001	9.7e-05	0.0016	0.0015	2.987e-05	2.236e-05	0	0	0	0	8.993e-07	0.0001	0.0019	6.571e-05	6.567e-05	1.285e-05	0.0001	0.0021	3.517e-05	2.616e-05	0.0011	0.0009	0	0	0	0	0	0	0	0	0	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1107.94	34	chr1	25974612	.	TC	T	1107.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.520e-01;DP=757;ExcessHet=0.0000;FS=5.464;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.59;ReadPosRankSum=-1.536e+00;SOR=0.250	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1197	20	0	1	0
chr1	25976754	25976754	C	T	exonic	PAFAH2	.	nonsynonymous SNV	PAFAH2:NM_000437:exon8:c.G686A:p.R229H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.958	D	0.595	P	0.009	N	1.000	N	2.2	M	0.47	T	-0.841	T	0.201	T	0.248	3.741	19.00	4.29	1.321	1.043	9.864	0.178	0.0229558841035	.	0.000599042	5.796e-05	0.0002	8.69e-05	0.0001	0	1.505e-05	0	0.0001	7.12e-05	11	154602	rs200838566	4.378e-05	4.515e-05	3.812e-05	4.951e-05	0.0002	3.509e-05	3.193e-05	0.0001	0.0001	2.987e-05	2.236e-05	0	7.558e-05	0	0	3.507e-05	4.967e-05	0.0002	1.969e-05	1.968e-05	1.284e-05	2.685e-05	0.0002	5.24e-06	2.45e-06	7.97e-06	2.98e-06	4.81e-05	0	0	0	0	0	0	0	0	0.0002	0.005	0.63226	D	0.011	0.64786	D	0.958	0.54977	D	0.595	0.50587	P	0.008893	0.30616	N	0.222920	0.999999	0.08975	N	2.075	0.57047	M	0.47	0.56114	T	-3.29	0.65742	D	0.405	0.44570	-0.8411	0.52573	T	0.201	0.55751	T	10	0.2634232	0.43820	T	0.022956	0.45892	T	0.178	0.44724	.	.	0.701399395786	0.69881	0.37676601467336773	0.37590	0.0881398853638	0.09959	0.286296069622	0.08385	T	0.419248	0.77133	T	-0.303389	0.08344	T	-0.399274	0.33470	T	0.204358623233872	0.20654	T	0.883212	0.60517	D	0.20454228	0.42567	0.18371545	0.41379	0.20454228	0.42566	0.18371545	0.41378	-6.299	0.48714	T	.	.	0.073	0.04558	B	.;.	.;.	4.169778	0.62683	24.5	0.99883683164832082	0.95892	0.16398	0.19370	N	AEFDBI	0.055116	0.10079	N	0.107455263393041	0.46810	2.91577	0.0411119328923455	0.41643	2.505402	0.881259605507874	0.25628	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.2	4.29	0.50359	0.897000	0.28022	2.234000	0.31556	0.549000	0.26987	0.023000	0.19925	0.979000	0.30280	0.994000	0.71098	0.0:0.8323:0.0:0.1677	9.864	0.40302	690	0.58899	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1199.98	36	chr1	25976754	.	C	T	1199.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.82;DP=792;ExcessHet=0.0000;FS=1.664;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=0.099;SOR=0.902	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1131	20	0	1	0
chr1	26023293	26023293	G	A	exonic	EXTL1	.	nonsynonymous SNV	EXTL1:NM_004455:exon1:c.G647A:p.R216Q,	.	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.051	B	0.022	B	0.510	N	1.000	N	-0.145	N	-4.35	D	-0.210	T	0.633	D	0.044	0.412	6.236	-6.92	-1.549	-4.363	13.031	0.263	0.101766253771	.	.	0.0001	0	0	0	0	0.0001	0	0.0005	7.12e-05	11	154602	rs771066693	5.214e-05	5.267e-05	4.728e-05	5.714e-05	0.0004	4.249e-05	3.892e-05	0.0001	0.0001	9.174e-05	2.396e-05	0	2.558e-05	0	0.0004	4.416e-05	3.421e-05	0.0002	2.627e-05	2.625e-05	2.57e-05	2.686e-05	0.0004	8.14e-06	5.14e-06	7.29e-05	3.029e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0004	1.0	0.00964	T	0.927	0.02804	T	0.051	0.22415	B	0.022	0.19653	B	0.510213	0.11852	N	0.770595	1	0.08975	N	0.29	0.10111	N	-4.35	0.97292	D	0.76	0.01978	N	0.049	0.02088	-0.2105	0.77401	T	0.633	0.87151	D	10	0.015463591	0.00325	T	0.101766	0.77484	D	0.263	0.57612	0.32	0.29902	0.267755039894	0.26402	0.2226674367061911	0.22181	0.281142357773	0.30588	0.226198792458	0.01698	T	0.170151	0.51779	T	-0.327645	0.06291	T	-0.406694	0.32607	T	0.0214523867343527	0.00849	T	0.676632	0.28519	T	0.051662832	0.09523	0.061889414	0.12024	0.051662832	0.09522	0.061889414	0.12023	-3.321	0.14010	T	.	.	0.063	0.01534	B	.	.	0.424715	0.07954	4.663	0.81276852953659218	0.13606	0.01421	0.04793	N	AEFBI	0.070834	0.14076	N	-1.6376929058656	0.01088	0.04722194	-1.59944683305465	0.01658	0.07529994	0.999998766778202	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.38	-6.92	0.01485	-3.851000	0.00394	-5.664000	0.01638	-0.104000	0.15758	0.000000	0.06391	0.000000	0.08366	0.996000	0.76049	0.5276:0.0773:0.395:0.0	13.031	0.58251	683	0.59664	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1065.98	34	chr1	26023293	.	G	A	1065.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.03;DP=785;ExcessHet=0.0000;FS=3.468;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.92;ReadPosRankSum=0.056;SOR=0.782	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1147	20	0	1	0
chr1	26058484	26058484	A	T	exonic	TRIM63	.	nonsynonymous SNV	TRIM63:NM_032588:exon5:c.T737A:p.I246N,	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.207	B	0.106	B	0.000	D	0.983	D	2.215	M	0.89	T	-1.001	T	0.112	T	0.506	2.353	13.83	3.15	0.369	1.991	7.353	0.200	0.0259062497016	.	.	1.647e-05	0	0	0	0	1.498e-05	0	6.056e-05	1.29e-05	2	154602	rs751834690	4.788e-05	4.788e-05	3.947e-05	5.638e-05	0.0003	3.86e-05	3.54e-05	0.0001	0.0001	2.987e-05	0	0	0	0	0.0003	4.047e-05	4.967e-05	0.0002	3.943e-05	3.94e-05	2.57e-05	5.381e-05	0.0002	1.716e-05	1.13e-05	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0	0.0002	0.048	0.40068	D	0.057	0.46406	T	0.207	0.29891	B	0.106	0.31143	B	0.000010	0.62929	D	0.149749	0.982539	0.39903	D	2.215	0.62545	M	0.89	0.45636	T	-3.16	0.64246	D	0.786	0.78262	-1.0011	0.29602	T	0.112	0.40075	T	10	0.64110816	0.69062	D	0.025906	0.48854	D	0.200	0.48430	0.502	0.59460	0.395289904662	0.39143	0.7605954958857244	0.76007	0.657483067834	0.58699	0.639129638672	0.58441	T	0.715226	0.91908	D	-0.282996	0.10352	T	-0.352132	0.38960	T	0.289428681135178	0.24566	T	0.776522	0.40874	T	0.5796899	0.71592	0.33347118	0.59183	0.5796899	0.71593	0.33347118	0.59183	-9.859	0.73063	D	.	.	0.225	0.45702	B	.	.	3.154724	0.42722	21.6	0.97486123199336694	0.34214	0.88036	0.47792	D	AEFGBI	0.410139	0.48113	N	-0.238672972915784	0.31558	1.770739	-0.148059369265145	0.33482	1.915774	0.987068973636989	0.31178	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.5	3.15	0.35301	1.989000	0.40328	4.736000	0.44580	-0.054000	0.16847	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.8005:0.0:0.0709:0.1286	7.353	0.25873	720	0.55521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1239.98	34	chr1	26058484	.	A	T	1239.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.940e-01;DP=789;ExcessHet=0.0000;FS=1.595;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=0.600;SOR=0.869	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1171	20	0	1	0
chr1	26170141	26170141	C	T	exonic	ZNF593	.	nonsynonymous SNV	ZNF593:NM_015871:exon1:c.C158T:p.P53L,	.	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.027	B	0.012	B	0.001	N	0.718	D	0.595	N	0.96	T	-1.045	T	0.011	T	0.508	1.619	11.37	4.71	1.347	1.123	7.557	0.193	.	0.0082	0.0123802	0.0053	0.0484	0.0130	0	0	0.0013	0	0.0002	0.0023803	368	154602	rs76775439	0.0014	0.0014	0.0015	0.0013	0.0334	0.0014	0.0013	0.0317	0.0310	0.0334	0.0040	0.0017	0	0	0.0047	0.0004	0.0037	0.0002	0.0094	0.0094	0.0097	0.0091	0.0304	0.0090	0.0088	0.0290	0.0285	0.0304	0	0.0059	0.0017	0	0	0.0034	0.0006	0.0095	0.0002	0.669	0.05076	T	0.648	0.06788	T	0.027	0.19556	B	0.012	0.16012	B	0.001154	0.40056	N	0.261875	0.717837	0.33585	D	0.785	0.19527	N	0.96	0.44461	T	0.87	0.29114	N	0.255	0.28849	-1.0452	0.15767	T	0.011	0.03949	T	10	0.006397307	0.00145	T	.	.	.	0.193	0.47281	.	.	0.272205846399	0.26826	0.586562092368773	0.58586	0.619716322566	0.56308	0.61102449894	0.54461	T	0.008809	0.08886	T	-0.469678	0.00854	T	-0.423751	0.30645	T	0.0137491613762883	0.00258	T	0.794521	0.43681	T	0.039990753	0.05625	0.05376432	0.09118	0.039990753	0.05624	0.05376432	0.09118	-3.536	0.16940	T	.	.	0.118	0.39528	B	.;.	.;.	1.903334	0.24177	16.30	0.87975301653202231	0.17622	0.34110	0.24989	N	ALL	0.154546	0.27959	N	-0.502822710899171	0.21988	1.170947	-0.346871005546974	0.26606	1.470699	0.999999999999984	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.63	4.71	0.59010	1.227000	0.32179	3.977000	0.40873	-0.177000	0.10537	0.831000	0.30147	0.999000	0.35428	0.017000	0.10941	0.1654:0.7512:0.0:0.0834	7.557	0.26996	411	0.82069	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1096.98	34	chr1	26170141	.	C	T	1096.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.79;DP=804;ExcessHet=0.0000;FS=1.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=0.411;SOR=0.666	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1308	20	0	1	0
chr1	26184449	26184449	C	A	exonic	CNKSR1	.	nonsynonymous SNV	CNKSR1:NM_001297647:exon12:c.C1070A:p.P357Q	.	.	0	1493	29	0	0	29	0.00961857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.971	D	0.548	P	0.577	N	1.000	N	0.805	L	2.73	T	-1.000	T	0.001	T	0.27	1.732	11.75	2.92	1.442	0.305	7.822	0.029	.	.	0.0339457	0.0157	0.0002	0.0007	0.0674	0	0.0005	0.0261	0.0721	0.013137	2031	154602	rs2297710	0.0072	0.0072	0.0056	0.0088	0.1002	0.0070	0.0070	0.0976	0.0965	0.0004	0.0003	3.828e-05	0.1002	5.623e-05	0.0035	0.0005	0.0078	0.0632	0.0052	0.0053	0.0038	0.0066	0.0819	0.0049	0.0048	0.0754	0.0729	7.219e-05	0	0.0005	0	0.0819	9.414e-05	0.0034	0.0004	0.0047	0.0658	0.267	0.35165	T	0.404	0.15157	T	0.971	0.57185	D	0.548	0.49136	P	0.577300	0.11178	N	0.807701	1	0.08975	N	2.52	0.73523	M	2.73	0.11839	T	-1.57	0.38345	N	0.072	0.05670	-1.0001	0.29888	T	0.001	0.00318	T	10	0.0023334324	0.00034	T	.	.	.	0.029	0.06676	.	.	.	.	0.4508199315232557	0.44999	0.4776242743	0.46872	0.362264126539	0.19716	T	0.020519	0.16142	T	-0.567208	0.00230	T	-0.53648	0.18643	T	0.0334743172741431	0.02549	T	0.541546	0.18382	T	0.037506957	0.04821	0.050522495	0.07946	0.037506957	0.04821	0.050522495	0.07946	-4.702	0.33428	T	.	.	0.094	0.14293	B	.;.;.	.;.;.	1.860913	0.23640	16.09	0.72990578385387084	0.10168	0.05735	0.11661	N	AEFDBI	0.048965	0.08410	N	-0.363017886859758	0.26798	1.465253	-0.464974973711878	0.23125	1.259522	0.808690635076044	0.24316	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.92	2.92	0.32998	0.504000	0.22335	0.595000	0.19862	0.594000	0.32500	0.079000	0.22314	0.007000	0.19602	0.041000	0.14368	0.1613:0.749:0.0:0.0896	7.822	0.28456	414	0.81871	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2235.11	38	chr1	26184449	.	C	A	2235.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.248e+00;DP=866;ExcessHet=0.1072;FS=2.043;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.24;ReadPosRankSum=1.95;SOR=0.896	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1060	19	0	2	0
chr1	26188925	26188925	G	A	exonic	CNKSR1	.	nonsynonymous SNV	CNKSR1:NM_001297647:exon20:c.G1865A:p.R622H	.	.	0	1516	6	0	0	6	0.00197498	.	.	718874	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.37	T	0.086	B	0.005	B	0.056	N	1.000	N	1.13	L	2.4	T	-1.016	T	0.006	T	0.129	3.208	16.75	2.41	0.772	0.798	1.911	0.037	.	0.0085	0.00898562	0.0027	0.0226	0.0044	0	0	0.0005	0.0022	0.0001	0.0026067	403	154602	rs61762998	0.0012	0.0012	0.0013	0.0011	0.0242	0.0012	0.0011	0.0228	0.0222	0.0242	0.0036	0.0016	0	0	0.0045	0.0005	0.0031	0.0002	0.0067	0.0067	0.0069	0.0064	0.0209	0.0063	0.0062	0.0197	0.0193	0.0209	0	0.0051	0.0017	0	0	0.0034	0.0007	0.0071	0.0002	0.107	0.29823	T	0.358	0.17064	T	0.086	0.24919	B	0.005	0.11217	B	0.055934	0.22601	N	0.495802	0.999997	0.08975	N	2.01	0.54746	M	2.4	0.15843	T	-1.3	0.42957	N	0.197	0.21710	-1.0164	0.24884	T	0.006	0.02055	T	10	0.003865391	0.00073	T	.	.	.	0.037	0.09474	.	.	0.177238962908	0.17366	0.1476650536286772	0.14688	0.271329387605	0.29656	0.355691462755	0.18757	T	0.007992	0.07355	T	-0.602239	0.00141	T	-0.620931	0.11113	T	0.00744029707040835	0.00086	T	0.849215	0.53152	T	0.034272753	0.03813	0.031375095	0.01718	0.034272753	0.03812	0.031375095	0.01717	-7.114	0.56771	T	.	.	0.082	0.11220	B	.;.;.	.;.;.	2.894708	0.38345	20.7	0.9986539473907623	0.94366	0.24268	0.22340	N	AEFDBI	0.116125	0.22804	N	-0.45577811563148	0.23545	1.265122	-0.347935149040524	0.26572	1.468653	1.76468148043862E-4	0.05786	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.542086	0.14980	0	.	.	5.74	2.41	0.28644	0.748000	0.25970	1.808000	0.28938	0.676000	0.76740	0.324000	0.25538	0.948000	0.28948	0.987000	0.62547	0.2402:0.1166:0.461:0.1822	1.911	0.03086	413	0.81939	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1167.98	33	chr1	26188925	.	G	A	1167.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.96;DP=782;ExcessHet=0.0000;FS=0.810;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.43;ReadPosRankSum=-1.533e+00;SOR=0.830	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1073	20	0	1	0
chr1	26200834	26200834	G	A	exonic	CATSPER4	.	nonsynonymous SNV	CATSPER4:NM_198137:exon8:c.G992A:p.G331D,	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.021	B	0.016	B	0.680	N	1.000	N	0.49	N	-4.36	D	-0.219	T	0.466	T	0.07	0.887	8.602	-0.082	-0.238	-0.748	2.996	0.136	.	0.0083	0.00858626	0.0026	0.0216	0.0044	0	0	0.0005	0.0022	0.0001	0.0025549	395	154602	rs80228909	0.0012	0.0012	0.0013	0.0011	0.0240	0.0011	0.0011	0.0226	0.0221	0.0240	0.0035	0.0016	0	0	0.0045	0.0004	0.0030	0.0002	0.0066	0.0066	0.0068	0.0063	0.0208	0.0062	0.0061	0.0196	0.0192	0.0208	0	0.0048	0.0017	0	0	0.0034	0.0006	0.0066	0.0002	0.213	0.19430	T	0.306	0.19972	T	0.012	0.16265	B	0.006	0.12133	B	0.679539	0.06084	N	1.206920	1	0.08975	N	0.695	0.17993	N	-4.37	0.97343	D	-0.04	0.07590	N	0.173	0.18512	-0.2187	0.77185	T	0.466	0.79383	T	10	0.0032977164	0.00057	T	.	.	.	0.136	0.36778	.	.	0.45470266194	0.45092	0.5923645865950602	0.59166	0.231487563342	0.25701	0.294064283371	0.09518	T	0.022173	0.17138	T	-0.403609	0.02192	T	-0.335613	0.40841	T	0.000436859698701168	0.00003	T	0.470053	0.13899	T	0.036906425	0.04632	0.063858695	0.12712	0.036906425	0.04631	0.063858695	0.12712	-2.577	0.06330	T	.	.	0.070	0.06433	B	.;.	.;.	-0.208363	0.03048	0.471	0.78245153556603186	0.12217	0.03672	0.08936	N	AEFDBCI	0.042926	0.06722	N	-1.22054054243808	0.04703	0.2128111	-1.24542602851954	0.05198	0.2471426	0.999970743878914	0.50053	0.455138	0.09556	0	0.59043	0.45803	0	0.606884	0.38211	0	0.542086	0.14980	0	.	.	4.21	-0.0823	0.13033	-0.715000	0.05099	-0.315000	0.10009	-0.272000	0.06708	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3447:0.0:0.4617:0.1935	2.996	0.05632	412	0.82007	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	714.98	36	chr1	26200834	.	G	A	714.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=0.272;SOR=0.760	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1212	20	0	1	0
chr1	26244166	26244166	G	T	exonic	CEP85	.	nonsynonymous SNV	CEP85:NM_001319944:exon3:c.G56T:p.S19I	.	.	426	1091	5	0	0	5	0.00228624	0.9925	0.91	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	B	0.014	B	0.142	N	1.000	D	0.895	L	1.49	T	-1.072	T	0.032	T	0.124	2.264	13.53	3.63	2.398	1.879	5.591	0.028	0.0103109528801	0.0035	0.00239617	0.0035	0.0010	0.0032	0	0.0011	0.0053	0.0012	0.0005	0.0034346	531	154602	rs139903267	0.0049	0.0049	0.0050	0.0048	0.0059	0.0048	0.0047	0.0058	0.0058	0.0004	0.0028	0.0001	0	0.0013	0.0024	0.0059	0.0041	0.0004	0.0033	0.0033	0.0035	0.0032	0.0056	0.0031	0.0030	0.0051	0.0050	0.0011	0.0022	0.0037	0	0	0.0010	0	0.0056	0.0057	0.0002	0.019	0.50132	D	0.191	0.28391	T	0.001	0.18235	B	0.001	0.16862	B	0.142071	0.18256	N	0.513245	0.988608	0.81001	D	0	0.06538	N	1.49	0.31470	T	-1.22	0.30964	N	0.354	0.39558	-1.0724	0.08894	T	0.032	0.13592	T	9	0.00421682	0.00084	T	0.010311	0.26698	T	0.028	0.06331	.	.	0.361558571881	0.35766	0.28108409604437223	0.28021	0.095645869351	0.10807	0.331831932068	0.15211	T	0.00999	0.09054	T	-0.552832	0.00280	T	-0.565101	0.15900	T	0.00865097157936644	0.00106	T	0.666133	0.27528	T	0.055065103	0.10651	0.05256894	0.08686	0.055065103	0.10650	0.05256894	0.08685	-4.748	0.34003	T	.	.	0.094	0.14568	B	.;.	.;.	3.357069	0.46327	22.3	0.97965966452879161	0.37217	0.90393	0.51533	D	AEFDBI	0.239166	0.36117	N	-0.143679909077754	0.35503	2.040171	0.017761710571029	0.40539	2.421037	0.999918596763669	0.45857	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.63	3.63	0.40741	2.176000	0.42128	3.739000	0.39644	-0.186000	0.09761	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.181:0.0:0.819:0.0	5.591	0.16583	445	0.79730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	472.98	28	chr1	26244166	.	G	T	472.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.747;DP=551;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.89;ReadPosRankSum=-3.600e-01;SOR=0.622	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,1032	20	0	1	0
chr1	26255425	26255425	A	G	exonic	CEP85	.	nonsynonymous SNV	CEP85:NM_001281517:exon3:c.A310G:p.T104A	.	.	.	.	.	.	.	.	.	.	.	2243468	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.78	T	0.0	B	0.001	B	0.290	N	1.000	N	-0.755	N	2.83	T	-0.989	T	0.008	T	0.062	-0.051	3.751	-7.64	-1.393	-0.501	3.300	0.016	0.005683565051	0.0003	.	0.0004	0	8.637e-05	0	0	0.0007	0	0	0.0003622	56	154602	rs146168523	0.0003	0.0003	0.0003	0.0003	0.0002	0.0003	0.0003	0.0001	0.0001	2.987e-05	4.472e-05	0.0087	0	0	0	0.0002	0.0005	0	0.0003	0.0003	0.0003	0.0003	0.0002	0.0003	0.0002	0.0002	0.0001	2.414e-05	0	0	0.0084	0	0	0	0.0002	0.0010	0	0.666	0.04616	T	0.633	0.07127	T	0.0	0.02946	B	0.001	0.04355	B	0.289564	0.14793	N	0.679170	0.999997	0.19072	N	0	0.06538	N	2.83	0.10771	T	0.09	0.05917	N	0.04	0.01347	-0.9885	0.32978	T	0.008	0.02638	T	10	0.003345102	0.00058	T	0.005684	0.14712	T	0.016	0.02506	.	.	0.0138822411134	0.00435	0.09642365408725817	0.09574	0.0742822433672	0.08328	0.292738497257	0.09322	T	0.003669	0.03081	T	-0.607764	0.00131	T	-0.807658	0.01718	T	0.014733603452376	0.00307	T	0.558444	0.19458	T	0.0155957965	0.00147	0.020111764	0.00119	0.0155957965	0.00147	0.020111764	0.00119	-2.509	0.06323	T	.	.	0.056	0.00505	B	.;.;.	.;.;.	0.156535	0.05477	1.945	0.4828738702871615	0.04017	0.03275	0.08317	N	AEFBI	0.033695	0.04045	N	-1.81260194031805	0.00515	0.02216872	-1.77397991701679	0.00846	0.03780586	0.86823361810661	0.25362	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.42	-7.64	0.01146	-0.465000	0.06757	-0.402000	0.09404	-0.059000	0.16651	0.024000	0.20007	0.001000	0.17328	0.990000	0.65344	0.2135:0.2958:0.3636:0.1271	3.300	0.06568	453	0.79178	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	989.98	35	chr1	26255425	.	A	G	989.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.679;DP=762;ExcessHet=0.0000;FS=0.901;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.75;ReadPosRankSum=-9.520e-01;SOR=0.902	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr1	26282323	26282323	A	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	33415.17	33	chr1	26282323	.	A	G,*	33415.17	.	AC=30,8;AF=0.714,0.190;AN=42;BaseQRankSum=0.532;DP=976;ExcessHet=0.6776;FS=0.923;InbreedingCoeff=-0.1053;MLEAC=30,8;MLEAF=0.714,0.190;MQ=60.00;MQRankSum=0.00;QD=31.59;ReadPosRankSum=-6.110e-01;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,42,0:42:99:1|1:26282270_C_T:1852,126,0,1852,126,1852:26282270	0	9	4	0
chr1	26282334	26282341	TGGGGCCG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	9122.57	35	chr1	26282334	.	TGGGGCCG	*,T	9122.57	.	AC=3,13;AF=0.071,0.310;AN=42;BaseQRankSum=0.857;DP=1017;ExcessHet=1.5101;FS=6.482;InbreedingCoeff=-0.0096;MLEAC=3,13;MLEAF=0.071,0.310;MQ=60.00;MQRankSum=0.00;QD=14.23;ReadPosRankSum=-6.330e-01;SOR=1.134	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:23,0,21:44:99:0|1:26282270_C_T:759,828,1780,0,952,889:26282270	8	0	0	0
chr1	26282344	26282361	ACCGGGACCGGGACTGGG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	9155.21	37	chr1	26282344	.	ACCGGGACCGGGACTGGG	*,A	9155.21	.	AC=3,13;AF=0.071,0.310;AN=42;BaseQRankSum=1.27;DP=1066;ExcessHet=1.5101;FS=6.447;InbreedingCoeff=-0.0096;MLEAC=3,13;MLEAF=0.071,0.310;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=-2.630e-01;SOR=1.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:28,0,21:49:99:0|1:26282270_C_T:744,828,2001,0,1173,1110:26282270	8	0	0	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	11163.93	50	chr1	26282357	.	CTGGGGCCGGG	C,*	11163.93	.	AC=10,16;AF=0.238,0.381;AN=42;BaseQRankSum=0.187;DP=1169;ExcessHet=10.5502;FS=6.433;InbreedingCoeff=-0.4135;MLEAC=10,16;MLEAF=0.238,0.381;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=0.857;SOR=1.118	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,28,21:49:99:0|1:26282270_C_T:2051,840,789,1173,0,1110:26282270	1	0	7	0
chr1	26282374	26282376	ACC	0	exonic	UBXN11	.	.	.	.	.	400	608	276	45	193	559	0.231353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14396.36	49	chr1	26282374	.	ACC	*,A	14396.36	.	AC=10,12;AF=0.294,0.353;AN=34;BaseQRankSum=-8.440e-01;DP=1160;ExcessHet=1.0911;FS=8.398;InbreedingCoeff=-0.1667;MLEAC=11,13;MLEAF=0.324,0.382;MQ=60.00;MQRankSum=0.00;QD=16.49;ReadPosRankSum=0.737;SOR=0.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,28,0:55:99:0|1:26282270_C_T:1094,0,999,1176,1084,2259:26282270	1	0	5	4
chr1	26282386	26282392	GCCGGGA	0	exonic	UBXN11	.	.	.	.	.	476	531	212	27	276	542	0.200301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11324.73	50	chr1	26282386	.	GCCGGGA	*,G	11324.73	.	AC=12,10;AF=0.353,0.294;AN=34;BaseQRankSum=0.255;DP=1262;ExcessHet=1.0911;FS=8.945;InbreedingCoeff=-0.1667;MLEAC=13,11;MLEAF=0.382,0.324;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=2.17;SOR=0.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:29,0,28:57:99:0|1:26282270_C_T:1088,1176,2379,0,1204,1119:26282270	1	1	5	4
chr1	26302813	26302813	C	T	exonic	UBXN11	.	nonsynonymous SNV	UBXN11:NM_001077262:exon2:c.G71A:p.G24E	.	.	426	1078	17	1	0	19	0.00873563	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.005	N	1.000	D	1.89	L	0.56	T	-0.561	T	0.300	T	0.705	4.009	20.5	5.02	2.497	1.307	14.223	0.161	0.0245755285633	0.0023	0.00139776	0.0032	0.0011	0.0013	0	0.0006	0.0045	0.0046	0.0030	0.0030013	464	154602	rs185509270	0.0032	0.0032	0.0031	0.0033	0.0073	0.0031	0.0031	0.0056	0.0049	0.0008	0.0016	0.0128	2.519e-05	0.0008	0.0073	0.0034	0.0030	0.0030	0.0025	0.0025	0.0026	0.0025	0.0040	0.0023	0.0022	0.0036	0.0034	0.0007	0	0.0022	0.0115	0	0.0005	0.0034	0.0040	0.0005	0.0015	0.0	0.91255	D	0.0	0.92824	D	0.998	0.90584	D	0.923	0.97372	D	0.004759	0.33426	N	0.196490	0.986583	0.81001	D	2.425	0.70256	M	0.56	0.54540	T	-1.51	0.72594	N	0.492	0.52563	-0.5607	0.66377	T	0.300	0.67166	T	9	0.007385522	0.00168	T	0.024576	0.47567	T	0.161	0.41658	.	.	0.756400104202	0.75419	0.427406060681843	0.42657	0.751198046596	0.63791	0.502426981926	0.39166	T	0.134715	0.48106	T	-0.22307	0.17575	T	-0.0932082	0.63919	T	0.0135733448611932	0.00250	T	0.831017	0.50060	T	0.21760602	0.44248	0.19395082	0.42992	0.21760602	0.44248	0.19395082	0.42991	-3.631	0.35746	T	.	.	0.122	0.44669	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.012736	0.83260	28.0	0.99752623855892775	0.84382	0.62145	0.31693	D	AEFBCIJ	0.523908	0.54732	D	0.599588342710051	0.73150	5.919186	0.570085177742901	0.72806	5.868129	0.999999992845656	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.608524	0.38960	0	0.655142	0.61905	0	.	.	5.02	5.02	0.66742	1.184000	0.31663	3.155000	0.36543	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	14.223	0.65383	397	0.82902	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	640.98	33	chr1	26302813	.	C	T	640.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.07;DP=776;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.86;ReadPosRankSum=0.619;SOR=0.779	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1351	20	0	1	0
chr1	26344428	26344428	C	T	exonic	CRYBG2	.	nonsynonymous SNV	CRYBG2:NM_001039775:exon2:c.G2230A:p.E744K,	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	.	.	.	.	.	.	1.000	N	.	.	.	.	-0.989	T	0.046	T	0.109	1.930	12.41	-0.763	-0.126	-0.616	8.377	0.025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1370083834	5.833e-06	6.84e-06	7.162e-06	4.455e-06	1.33e-05	2.51e-06	1.81e-06	2.03e-06	1.33e-06	0	0	0	0	0	0	5.638e-06	1.762e-05	1.33e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.652	0.06690	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.121	0.11197	-0.9892	0.32803	T	0.046	0.19879	T	5	0.08781037	0.15059	T	.	.	.	.	.	.	.	0.365317461125	0.36143	0.24715112413092033	0.24629	.	.	0.296991467476	0.09954	T	.	.	.	-0.373527	0.03420	T	-0.614845	0.11594	T	0.041263439797121	0.03920	T	0.587941	0.21519	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04599	B	.;.;.	.;.;.	0.197240	0.05827	2.266	0.95551349736856361	0.27214	0.03493	0.08662	N	AEFBI	.	.	.	-0.710346482922281	0.15730	0.7953186	-0.85990584790595	0.13050	0.674836	0.0139665839988092	0.12534	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.01	-0.763	0.10475	-0.411000	0.07205	-1.152000	0.06178	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.196000	0.21779	0.0:0.45:0.0:0.55	8.377	0.31612	358	0.85037	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1535.98	136	chr1	26344428	.	C	T	1535.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=1909;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=0.350;SOR=0.723	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1294	20	0	1	0
chr1	26344884	26344884	A	G	exonic	CRYBG2	.	nonsynonymous SNV	CRYBG2:NM_001039775:exon2:c.T1774C:p.S592P,	.	.	398	1117	7	0	0	7	0.00312361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0029	0	0	0	0.0128	0.0006	0	0.0047	0.0004657	72	154602	rs538385557	0.0006	0.0006	0.0005	0.0008	0.0056	0.0006	0.0006	0.0046	0.0045	3.174e-05	5.618e-05	3.982e-05	0	0.0023	0.0056	0.0003	0.0006	0.0050	0.0007	0.0007	0.0005	0.0008	0.0045	0.0006	0.0005	0.0030	0.0025	7.951e-05	0	0.0001	0	0	0.0024	0	0.0007	0.0015	0.0045	0.007	0.59928	D	0.372	0.16376	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.19	0.78427	T	-3.67	0.70191	D	0.045	0.01740	.	.	.	.	.	.	.	0.0076414645	0.00174	T	.	.	.	.	.	.	.	0.593458155424	0.59024	0.02519222091890092	0.02470	.	.	0.312482118607	0.12282	T	0.508241	0.82561	D	-0.544142	0.00316	T	-0.553583	0.16984	T	.	.	.	0.20068	0.02286	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12181	B	.;.;.	.;.;.	0.128573	0.05245	1.749	0.46358438282256698	0.03707	0.00081	0.00551	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.060607950324704	0.15203	0.162113	0.03585	0	0.059962	0.00310	0	0.175069	0.04249	0	0.062806	0.01542	0	0.0567458	0.13447	2.56	-0.481	0.11479	-0.598000	0.05802	-3.681000	0.02609	-0.258000	0.06954	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3975:0.0:0.3879:0.2146	2.632	0.04647	355	0.85216	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2825.98	137	chr1	26344884	.	A	G	2825.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.557e+00;DP=2339;ExcessHet=0.0000;FS=0.481;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=0.651;SOR=0.710	GT:AD:DP:GQ:PL	0/0:125,0:125:99:0,120,1800	20	0	1	0
chr1	26346482	26346482	C	T	exonic	CRYBG2	.	nonsynonymous SNV	CRYBG2:NM_001039775:exon2:c.G176A:p.R59H,	.	.	421	1097	4	0	0	4	0.00181984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.001	B	0.001	B	.	.	1.000	N	-0.55	N	2.39	T	-0.959	T	0.012	T	0.024	-1.109	0.135	-2.42	-0.450	-0.163	0.242	0.044	.	8.2e-05	0.000798722	0.0005	0.0001	0.0006	0	0	6.263e-05	0.0012	0.0031	0.0004463	69	154602	rs370067840	0.0002	0.0002	0.0001	0.0003	0.0033	0.0002	0.0002	0.0030	0.0028	0	0.0004	0	5.038e-05	0	0	1.259e-05	0.0002	0.0033	0.0002	0.0002	6.426e-05	0.0003	0.0043	0.0001	0.0001	0.0029	0.0024	4.813e-05	0	0.0001	0	0.0002	0	0	0	0	0.0043	.	.	.	0.544	0.09621	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.028	0.00618	-0.9585	0.39461	T	0.012	0.04510	T	9	0.006425917	0.00146	T	.	.	.	0.044	0.11924	.	.	0.0297737177859	0.01360	0.04577471199051958	0.04521	.	.	0.206053942442	0.00655	T	.	.	.	-0.782315	0.00011	T	-0.899882	0.00503	T	0.0125665755209146	0.00209	T	0.416558	0.10945	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.46250	B	.;.;.	.;.;.	0.382107	0.07541	4.190	0.5933387920255544	0.06200	0.00575	0.02600	N	AEFDBHCI	.	.	.	-1.48351235336492	0.01966	0.08633371	-1.46811101694895	0.02610	0.1203354	0.0267706460024836	0.13733	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.04	-2.42	0.06164	-0.432000	0.07026	-4.291000	0.02235	-0.780000	0.03343	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3138:0.1908:0.1383:0.3571	0.242	0.00179	349	0.85513	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2484.98	48	chr1	26346482	.	C	T	2484.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.280e-01;DP=1026;ExcessHet=0.0000;FS=2.374;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=0.00;SOR=0.561	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1298	20	0	1	0
chr1	26546021	26546021	C	T	exonic	RPS6KA1	.	nonsynonymous SNV	RPS6KA1:NM_001006665:exon1:c.C121T:p.P41S,	.	.	389	1131	2	0	0	2	0.000883392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.0	B	0.001	B	0.068	N	1.000	D	0.345	N	-0.41	T	-1.052	T	0.118	T	0.084	2.135	13.09	2.18	0.673	1.380	8.600	0.073	0.0161539686969	.	0.000798722	0.0006	0	0.0002	0	0	8.454e-05	0.0064	0.0038	0.0004851	75	154602	rs545464196	0.0003	0.0002	0.0002	0.0003	0.0036	0.0002	0.0002	0.0033	0.0032	0	0	0	0	0	0.0011	2.07e-05	0.0004	0.0036	9.845e-05	9.842e-05	6.422e-05	0.0001	0.0027	6e-05	4.875e-05	0.0016	0.0013	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0027	0.729	0.03823	T	0.572	0.08746	T	0.0	0.02946	B	0.001	0.04355	B	0.068314	0.21681	N	0.368043	1	0.81001	D	.	.	.	-0.41	0.69413	T	0.4	0.03463	N	0.27	0.30574	-1.0522	0.13790	T	0.118	0.41560	T	10	0.0037961006	0.00071	T	0.016154	0.37263	T	0.073	0.21317	0.144	0.04746	0.250512400709	0.24649	0.33877112466358394	0.33790	0.606565947541	0.55501	0.351944923401	0.18207	T	.	.	.	-0.510051	0.00502	T	-0.507535	0.21568	T	0.0368857559538266	0.03135	T	.	.	.	.	.	.	.	.	.	.	.	-2.792	0.08110	T	.	.	0.067	0.02488	B	.	.	2.039128	0.25922	16.93	0.98052867381801712	0.37882	0.60883	0.31323	D	AEFDGBHCI	0.215533	0.34088	N	-0.706628107658555	0.15835	0.8015666	-0.531376515385434	0.21302	1.151784	0.999999874303824	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.600373	0.31884	2	0.613276	0.41899	0	.	.	4.05	2.18	0.26813	1.399000	0.34175	1.686000	0.28041	-0.193000	0.09282	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.8146:0.0:0.1854	8.600	0.32902	364	0.84707	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	570.98	37	chr1	26546021	.	C	T	570.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.26;DP=733;ExcessHet=0.0000;FS=2.844;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.43;ReadPosRankSum=-1.273e+00;SOR=1.230	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1314	20	0	1	0
chr1	26797639	26797639	C	T	exonic	PIGV	.	nonsynonymous SNV	PIGV:NM_001374483:exon3:c.C896T:p.P299L	Hyperphosphatasia with mental retardation syndrome 1, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	194475	Hyperphosphatasia_with_intellectual_disability_syndrome_1|not_provided	MONDO:MONDO:0009398,MedGen:C4551502,OMIM:239300,Orphanet:247262|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.12	T	0.646	P	0.204	B	0.000	D	1.000	D	2.24	M	-1.72	D	-0.398	T	0.430	T	0.229	2.947	15.82	2.24	0.335	4.394	7.962	0.356	0.0721480124737	0.0015	0.000399361	0.0013	0.0002	0.0003	0	0.0002	0.0014	0.0022	0.0030	0.0012225	189	154602	rs146969255	0.0015	0.0015	0.0013	0.0016	0.0036	0.0014	0.0014	0.0033	0.0031	0.0003	0.0004	3.826e-05	5.038e-05	0.0001	0.0017	0.0015	0.0011	0.0036	0.0012	0.0012	0.0012	0.0011	0.0025	0.0010	0.0010	0.0018	0.0017	0.0002	0	0.0008	0	0.0002	9.423e-05	0	0.0021	0	0.0025	0.047	0.40319	D	0.006	0.70582	D	0.302	0.32608	B	0.111	0.31539	B	0.000131	0.49741	D	0.178400	1	0.81001	D	2.11	0.58565	M	-1.72	0.83241	D	-2.62	0.56301	D	0.202	0.22357	-0.3981	0.72087	T	0.430	0.77245	T	10	0.015038282	0.00316	T	0.072148	0.71457	D	0.356	0.67691	.	.	0.941066324122	0.94045	0.4431815518374925	0.44236	0.170673729105	0.19233	0.419199436903	0.27726	T	0.706181	0.91582	D	-0.327894	0.06272	T	-0.24282	0.50523	T	0.017845059799162	0.00512	T	0.726827	0.34112	T	0.06703719	0.14481	0.088722244	0.20706	0.06703719	0.14480	0.088722244	0.20705	-3.36	0.14523	T	0.2490897256728289	0.33724	0.119	0.24363	B	.;.	.;.	3.653015	0.51852	23.2	0.98936271677537946	0.48845	0.89682	0.50304	D	AEFDBCI	0.739567	0.68408	D	-0.0763593389326116	0.38432	2.25079	-0.0751647769255206	0.36420	2.119288	0.999546994787967	0.40300	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.669	0.65921	0	.	.	5.14	2.24	0.27264	3.727000	0.54711	4.873000	0.45587	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.990000	0.65344	0.0:0.7218:0.1325:0.1456	7.962	0.29236	375	0.84013	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1203.98	34	chr1	26797639	.	C	T	1203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.68;DP=816;ExcessHet=0.0000;FS=9.146;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.58;ReadPosRankSum=-3.380e-01;SOR=1.040	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1286	20	0	1	0
chr1	26827078	26827078	G	C	exonic	ZDHHC18	.	nonsynonymous SNV	ZDHHC18:NM_032283:exon1:c.G274C:p.G92R,	.	.	357	1164	1	0	0	1	0.000429369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.997	D	0.894	P	0.001	U	1.000	D	1.57	L	0.93	T	-0.960	T	0.141	T	0.606	2.862	15.53	0.601	1.331	3.739	7.293	0.260	0.660678991211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	0.09687	T	0.21	0.26714	T	0.997	0.70673	D	0.894	0.63417	P	0.001051	0.40475	U	0.163051	0.991715	0.41456	D	2.115	0.58683	M	0.93	0.44065	T	-6.54	0.91786	D	0.666	0.67477	-0.9596	0.39255	T	0.141	0.46147	T	10	0.81984043	0.81196	D	0.660679	0.97149	D	0.260	0.57221	0.66	0.79791	0.329020015101	0.32502	0.8107292911252596	0.81027	1.68471132143	0.90044	0.919420659542	0.98279	D	0.202458	0.56063	T	-0.0637104	0.42324	T	-0.329292	0.41547	T	0.992928445339203	0.83541	D	0.870213	0.57527	D	0.41585687	0.61815	0.31782857	0.57755	0.41585687	0.61816	0.31782857	0.57754	-7.964	0.60824	D	.	.	0.773	0.76063	P	.	.	4.716721	0.75825	26.4	0.99325156065475573	0.59546	0.78881	0.38987	D	AEFDBHCIJ	0.572757	0.57621	D	0.214381867123978	0.51896	3.367422	0.11181061666156	0.45151	2.783473	0.999999999998305	0.74766	0.65757	0.49021	0	0.52208	0.09955	0	0.619478	0.44681	0	0.56751	0.32155	0	.	.	2.87	0.601	0.16708	3.940000	0.56310	2.441000	0.32772	0.520000	0.23804	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.113:0.1751:0.7119:0.0	7.293	0.25548	488	0.76887	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	488.98	45	chr1	26827078	.	G	C	488.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.659e+00;DP=725;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=2.86;SOR=0.770	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,967	20	0	1	0
chr1	26853755	26853755	C	T	exonic	ZDHHC18	.	nonsynonymous SNV	ZDHHC18:NM_032283:exon8:c.C1079T:p.S360F,	.	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.906	P	0.365	B	0.635	N	0.900	N	0.55	N	0.88	T	-0.818	T	0.122	T	0.303	3.409	17.52	4.8	2.473	6.357	18.029	0.151	0.0122435203181	7.7e-05	.	0.0001	0	0.0003	0	0	6.008e-05	0.0022	0.0004	0.00011	17	154602	rs151336811	0.0001	0.0001	8.032e-05	0.0001	0.0007	9.67e-05	9.149e-05	0.0005	0.0004	0	0.0006	0	0	0	0.0007	7.464e-05	0.0003	0.0003	0.0003	0.0003	0.0002	0.0005	0.0026	0.0003	0.0002	0.0019	0.0017	0	0	0.0026	0	0	0	0.0102	0.0001	0	0.0002	0.027	0.46513	D	0.04	0.52727	D	0.906	0.49993	P	0.365	0.43339	B	0.634969	0.05835	N	1.186530	0.899808	0.27723	N	1.24	0.30952	L	0.88	0.53088	T	-2.15	0.52938	N	0.113	0.22098	-0.8176	0.54084	T	0.122	0.42272	T	10	0.043574423	0.03221	T	0.012244	0.30635	T	0.151	0.39764	.	.	0.48763082235	0.48394	0.6532330271380543	0.65259	0.880658612019	0.69758	0.536027550697	0.43885	T	0.138019	0.47128	T	-0.365882	0.03808	T	-0.377602	0.36003	T	0.0613208124680371	0.07375	T	0.945705	0.79334	D	0.11510625	0.27166	0.14992525	0.35380	0.11510625	0.27166	0.14992525	0.35379	-10.871	0.78945	D	.	.	0.213	0.44214	B	.;.	.;.	3.972013	0.58326	24.0	0.99549880629490006	0.71086	0.94803	0.62383	D	AEFGBI	0.674021	0.63988	D	0.184795699815732	0.50469	3.236601	0.218524993354046	0.50876	3.275115	0.999999999999697	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.644132	0.48003	0	0.714379	0.83352	0	.	.	4.8	4.8	0.61157	6.395000	0.73157	7.628000	0.62604	0.599000	0.40250	0.724000	0.28861	0.999000	0.35428	0.992000	0.67800	0.0:1.0:0.0:0.0	18.029	0.89201	505	0.75648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2578.98	33	chr1	26853755	.	C	T	2578.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.289;DP=921;ExcessHet=0.0000;FS=1.017;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=0.229;SOR=0.767	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1324	20	0	1	0
chr1	26900049	26900049	T	C	exonic	GPATCH3	.	nonsynonymous SNV	GPATCH3:NM_022078:exon1:c.A394G:p.T132A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.005	B	0.003	B	0.001	D	0.678	D	1.355	L	1.61	T	-1.033	T	0.053	T	0.037	2.738	15.12	4.04	0.862	1.295	5.002	0.051	0.00432328760301	.	.	3.303e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs745345894	1.437e-05	1.436e-05	6.806e-06	2.2e-05	0.0002	9.23e-06	7.84e-06	0.0002	0.0001	0	0	0	0	0	0.0002	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	0.12305	T	0.783	0.04288	T	0.005	0.12996	B	0.003	0.08700	B	0.000510	0.43753	D	0.261130	0.677896	0.33205	D	2.175	0.60977	M	1.61	0.28391	T	-0.67	0.19297	N	0.163	0.17140	-1.0334	0.19363	T	0.053	0.22384	T	10	0.056217045	0.06267	T	0.004323	0.10498	T	0.051	0.14325	0.277	0.23004	0.0986583533028	0.09354	0.301583038249902	0.30071	0.143679958183	0.16225	0.484775841236	0.36715	T	0.019549	0.15555	T	-0.509387	0.00506	T	-0.669151	0.07662	T	0.0796410126864057	0.09940	T	0.556544	0.19325	T	0.046002608	0.07627	0.062024526	0.12069	0.046002608	0.07627	0.062024526	0.12068	-3.81	0.20954	T	.	.	0.071	0.03849	B	.	.	1.730718	0.22026	15.45	0.97817741421236104	0.36174	0.64981	0.32585	D	AEFDGBCIJ	0.130844	0.24955	N	-0.296081419406685	0.29300	1.623578	-0.148147105122859	0.33480	1.915543	0.999999994813457	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.372554	0.06265	0	.	.	5.23	4.04	0.46262	1.434000	0.34567	0.773000	0.21413	0.665000	0.62972	0.958000	0.33488	0.640000	0.25910	0.872000	0.41544	0.1983:0.0854:0.0:0.7163	5.002	0.13615	516	0.74704	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2160.98	38	chr1	26900049	.	T	C	2160.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.750e-01;DP=880;ExcessHet=0.0000;FS=0.535;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=1.18;SOR=0.656	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1176	20	0	1	0
chr1	26950113	26950113	C	T	exonic	KDF1	.	nonsynonymous SNV	KDF1:NM_152365:exon4:c.G1153A:p.D385N,	.	.	417	1104	1	0	0	1	0.000452694	.	.	2812533	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.938	P	0.381	B	0.002	N	0.995	D	0	N	1.82	T	-1.053	T	0.038	T	0.065	3.856	19.59	4.29	2.374	5.083	15.453	0.136	.	.	0.00179712	0.0013	0	8.642e-05	0.0005	0	0.0002	0.0166	0.0078	0.0011125	172	154602	rs200294153	0.0006	0.0006	0.0004	0.0008	0.0066	0.0005	0.0005	0.0062	0.0060	0.0001	0.0001	0	0.0001	5.618e-05	0.0002	0.0002	0.0009	0.0066	0.0003	0.0003	0.0002	0.0004	0.0062	0.0002	0.0002	0.0045	0.0039	2.41e-05	0	0.0003	0	0.0002	9.427e-05	0	0.0001	0.0014	0.0062	0.009	0.57480	D	0.175	0.29945	T	0.938	0.52538	P	0.381	0.43873	B	0.001927	0.37643	N	0.221180	0.994755	0.42403	D	0.345	0.11182	N	1.82	0.25018	T	-0.6	0.17834	N	0.257	0.29081	-1.0531	0.13547	T	0.038	0.16505	T	10	0.0061792433	0.00139	T	.	.	.	0.136	0.36778	.	.	0.44318313171	0.43938	0.11829594024671028	0.11756	0.728754840665	0.62623	.	.	.	0.017337	0.14159	T	-0.590434	0.00167	T	-0.616189	0.11487	T	0.078145671021445	0.09748	T	0.889511	0.62170	D	0.11852192	0.27923	0.09312866	0.21983	0.11852192	0.27922	0.09312866	0.21982	-5.867	0.45153	T	0.12737852908203734	0.13031	0.234	0.46677	B	.	.	4.680295	0.74895	26.2	0.9986435496354773	0.94276	0.95612	0.65420	D	AEFDGBHCI	0.621487	0.60616	D	0.263296976739034	0.54298	3.595862	0.346731951330618	0.58311	4.00091	0.999999999876094	0.74766	0.615755	0.39536	0	0.550933	0.16991	0	0.606735	0.37207	0	0.526803	0.08958	0	.	.	4.29	4.29	0.50359	5.099000	0.64388	7.633000	0.62825	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	15.453	0.75013	590	0.68897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	933.98	34	chr1	26950113	.	C	T	933.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=767;ExcessHet=0.0000;FS=5.918;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=2.01;SOR=0.560	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1227	20	0	1	0
chr1	26951724	26951724	G	T	exonic	KDF1	.	nonsynonymous SNV	KDF1:NM_152365:exon2:c.C657A:p.F219L,	.	.	426	1087	8	1	0	10	0.00457875	.	.	2107693	not_provided|Ectodermal_dysplasia_12,_hypohidrotic/hair/tooth/nail_type|KDF1-related_disorder	MedGen:C3661900|MONDO:MONDO:0015024,MedGen:C4310616,OMIM:617337|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.91	T	0.27	B	0.147	B	0.000	D	0.991	D	0.145	N	2.11	T	-1.007	T	0.097	T	0.543	0.269	5.456	2.91	0.632	2.904	6.837	0.129	0.00710814544944	7.7e-05	0.000599042	0.0006	0	0.0027	0	0.0015	0.0004	0.0033	0.0002	0.0005239	81	154602	rs141390568	0.0003	0.0003	0.0003	0.0003	0.0045	0.0003	0.0003	0.0032	0.0027	2.987e-05	0.0020	0	0	0.0019	0.0045	0.0002	0.0007	0.0002	0.0004	0.0004	0.0003	0.0005	0.0021	0.0003	0.0003	0.0015	0.0013	0	0	0.0021	0.0003	0	0.0011	0.0034	0.0002	0.0009	0.0002	0.817	0.02981	T	1.0	0.01155	T	0.27	0.31762	B	0.147	0.34014	B	0.000130	0.49741	D	0.182306	0.990945	0.41272	D	1.15	0.29295	L	2.11	0.19860	T	-2.2	0.49519	N	0.326	0.36674	-1.0072	0.27789	T	0.097	0.36393	T	10	0.0061787963	0.00139	T	0.007108	0.18841	T	0.210	0.50028	0.156	0.05964	0.12205267543	0.11705	0.31777294114565585	0.31690	1.06235581536	0.76527	.	.	.	0.03671	0.24205	T	-0.439144	0.01308	T	-0.416807	0.31442	T	0.0420856162177448	0.04070	T	0.741726	0.36078	T	0.11176008	0.26407	0.110893056	0.26744	0.08686602	0.20205	0.11440011	0.27614	-2.447	0.05429	T	0.12742676430120856	0.13045	0.960	0.88107	P	.	.	3.604804	0.50935	23.0	0.97352451090183945	0.33529	0.94369	0.60946	D	AEFDBI	0.434710	0.49565	N	-0.214460432926243	0.32539	1.836212	-0.140888317056547	0.33760	1.93462	0.989069017715926	0.31712	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	4.77	2.91	0.32903	2.965000	0.48892	5.821000	0.50083	-0.133000	0.13014	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.1551:0.1435:0.7014:0.0	6.837	0.23124	590	0.68897	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1214.98	38	chr1	26951724	.	G	T	1214.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.998e+00;DP=796;ExcessHet=0.0000;FS=0.768;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.79;ReadPosRankSum=0.782;SOR=0.671	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1224	20	0	1	0
chr1	26952079	26952079	C	T	exonic	KDF1	.	nonsynonymous SNV	KDF1:NM_152365:exon2:c.G302A:p.R101H,	.	.	430	1089	2	1	0	4	0.00183318	.	.	3021638	not_provided|KDF1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.994	D	0.669	P	0.000	D	0.973	N	0.55	N	1.74	T	-1.083	T	0.034	T	0.396	3.835	19.48	4.0	1.266	3.460	3.258	0.116	0.0119134788529	0.0023	0.00139776	0.0007	0.0060	0.0007	0	0	0.0002	0.0012	0.0001	0.0006792	105	154602	rs139183337	0.0004	0.0004	0.0004	0.0004	0.0048	0.0004	0.0004	0.0042	0.0040	0.0048	0.0011	0.0002	0	0	0.0017	0.0003	0.0008	6.957e-05	0.0018	0.0018	0.0018	0.0017	0.0058	0.0016	0.0015	0.0052	0.0049	0.0058	0	0.0005	0.0009	0	0	0	0.0002	0.0019	0	0.035	0.43708	D	0.113	0.36901	T	0.994	0.66517	D	0.669	0.53077	P	0.000174	0.48594	D	0.136143	0.972752	0.25584	N	0.895	0.22405	L	1.74	0.26301	T	-1.16	0.29727	N	0.315	0.35514	-1.0825	0.06871	T	0.034	0.14769	T	10	0.0068392456	0.00155	T	0.011913	0.29998	T	0.116	0.32463	.	.	0.41859458845	0.41473	0.43527275034797336	0.43444	1.07580101826	0.76957	.	.	.	0.034362	0.23290	T	-0.442172	0.01256	T	-0.405869	0.32702	T	0.0226515989256701	0.00983	T	0.836316	0.50742	T	0.06694205	0.14450	0.039366607	0.04014	0.06694205	0.14450	0.039366607	0.04013	-5.712	0.43800	T	0.152050973672161	0.17984	0.097	0.15966	B	.	.	4.581357	0.72376	25.8	0.99921709468174646	0.98787	0.57917	0.30503	D	AEFDBCI	0.152352	0.27701	N	0.274843694757074	0.54876	3.652345	0.308662780356807	0.56046	3.767723	0.99995536922049	0.48110	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	4.92	4.0	0.45673	3.813000	0.55340	4.827000	0.45167	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.229:0.5714:0.0:0.1995	3.258	0.06435	590	0.68897	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1179.98	38	chr1	26952079	.	C	T	1179.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.86;DP=892;ExcessHet=0.0000;FS=1.854;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.75;ReadPosRankSum=-2.260e-01;SOR=0.996	GT:AD:DP:GQ:PL	0/0:65,0:65:99:0,120,1800	20	0	1	0
chr1	27332098	27332098	C	T	exonic	TMEM222	.	nonsynonymous SNV	TMEM222:NM_032125:exon3:c.C308T:p.A103V,	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.0	B	0.002	B	0.002	N	0.754	N	0.41	N	.	.	-1.063	T	0.057	T	0.427	2.325	13.73	3.62	1.472	2.090	7.102	0.150	0.00156299132547	7.7e-05	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs139728654	4.104e-06	4.104e-06	4.084e-06	4.125e-06	2.319e-05	1.48e-06	9.7e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	8.993e-07	4.967e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.28026	T	0.275	0.22761	T	0.0	0.02946	B	0.002	0.06944	B	0.001845	0.37840	N	0.297439	0.753868	0.29610	N	0.245	0.09735	N	.	.	.	-0.57	0.17417	N	0.303	0.34228	-1.0633	0.10950	T	0.057	0.23866	T	9	0.20928231	0.37285	T	0.001563	0.02471	T	0.150	0.39571	.	.	0.241078983079	0.23725	0.5804440348877591	0.57973	0.332720288705	0.35319	0.544475197792	0.45078	T	0.040032	0.25393	T	-0.057566	0.43286	T	-0.320466	0.42524	T	0.2146901740664	0.21195	T	0.807219	0.71908	T	0.02531691	0.01457	0.06087116	0.11664	0.02531691	0.01457	0.06087116	0.11664	-3.854	0.21614	T	.	.	0.127	0.36275	B	.;.;.;.;.;.	.;.;.;.;.;.	2.796809	0.36783	20.3	0.96920574873995491	0.31617	0.84558	0.43641	D	AEFBI	0.253612	0.37307	N	-0.278093749289238	0.29995	1.668494	-0.0730372287814144	0.36509	2.125614	0.965940508322886	0.28867	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.81	3.62	0.40616	2.164000	0.42013	2.163000	0.30996	-0.178000	0.10482	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.6827:0.0:0.3173	7.102	0.24523	451	0.79296	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1556.98	33	chr1	27332098	.	C	T	1556.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.488;DP=837;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.28;ReadPosRankSum=0.357;SOR=0.694	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1179	20	0	1	0
chr1	27349463	27349463	G	C	exonic	SYTL1	.	nonsynonymous SNV	SYTL1:NM_001193308:exon7:c.G598C:p.G200R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.002	B	0.003	B	0.003	N	1.000	N	0.345	N	0.95	T	-1.060	T	0.048	T	0.06	-0.046	3.778	-9.22	-2.425	-3.330	6.126	0.018	0.00938632533659	.	.	0.0002	0	0	0	0	0.0004	0	0	3.23e-05	5	154602	rs201651642	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0002	7.136e-05	0.0005	0	0.0004	0	0.0003	0.0002	0.0001	4.726e-05	9.19e-05	9.186e-05	8.993e-05	9.396e-05	0.0004	5.522e-05	4.361e-05	8.868e-05	5.28e-05	4.81e-05	0	0.0003	0	0.0004	0	0	8.82e-05	0	0	0.724	0.04629	T	0.765	0.09690	T	0.0	0.02946	B	0.001	0.04355	B	0.002559	0.00896	N	47.078100	1	0.08975	N	-0.55	0.02420	N	0.95	0.43279	T	0.11	0.05706	N	0.034	0.01577	-1.0602	0.11706	T	0.048	0.20553	T	10	0.0133135915	0.00283	T	0.009386	0.24623	T	0.018	0.03083	0.326	0.30873	0.0986583533028	0.09354	0.19207232943905922	0.19125	0.213928381652	0.23918	0.351639032364	0.18163	T	0.007149	0.26869	T	-0.600665	0.00144	T	-0.78058	0.02436	T	0.0104161743861262	0.00143	T	0.486851	0.15329	T	0.052052222	0.09652	0.043172132	0.05311	0.052052222	0.09651	0.043172132	0.05310	-4.339	0.28720	T	.	.	0.069	0.03128	B	.;.;.;.	.;.;.;.	-1.368762	0.00383	0.007	0.38962389120526114	0.02660	0.02927	0.07740	N	AEFDBHCIJ	0.037098	0.05047	N	-2.1924869620149	0.00080	0.003416073	-2.27782541604994	0.00074	0.003269648	1.0	0.98316	0.685219	0.55550	0	0.662677	0.63036	0	0.674405	0.61402	0	0.554799	0.18163	0	.	.	4.61	-9.22	0.00575	-2.781000	0.00843	-4.619000	0.02066	-0.993000	0.01841	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.5044:0.1042:0.3218:0.0697	6.126	0.19401	549	0.72275	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	388.98	39	chr1	27349463	.	G	C	388.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.100e-02;DP=839;ExcessHet=0.0000;FS=1.218;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.26;ReadPosRankSum=0.521;SOR=0.430	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1456	20	0	1	0
chr1	27353834	27353834	-	CT	exonic	SYTL1	.	frameshift insertion	SYTL1:NM_001193308:exon15:c.1671_1672insCT:p.A559Wfs*32	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	801.94	36	chr1	27353834	.	C	CCT	801.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.080e-01;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.65;ReadPosRankSum=-4.980e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/1:22,21:43:99:816,0,861	20	0	1	0
chr1	27366450	27366450	C	A	exonic	MAP3K6	.	nonsynonymous SNV	MAP3K6:NM_001297609:exon1:c.G148T:p.V50L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.976	D	0.831	P	.	.	0.961	D	2.11	M	-0.48	T	0.024	D	0.451	T	0.313	4.217	21.9	4.69	2.418	2.616	15.530	0.228	.	.	0.00199681	0	.	.	.	.	.	.	.	0.00073	19	26028	rs374577854	0.0004	0.0004	0.0003	0.0004	0.0165	0.0003	0.0003	0.0150	0.0144	0	0	0	4.145e-05	0	0.0007	4.428e-06	0.0010	0.0165	0.0005	0.0005	0.0003	0.0007	0.0137	0.0004	0.0003	0.0110	0.0101	2.415e-05	0	0	0	0.0002	0	0	1.482e-05	0	0.0137	0.01	0.57480	D	0.055	0.46862	T	0.976	0.58310	D	0.831	0.59664	P	.	.	.	.	0.961106	0.38217	D	2.42	0.70002	M	-0.49	0.70365	T	-1.71	0.40660	N	0.123	0.12770	0.024	0.82731	D	0.451	0.78515	T	9	0.008459061	0.00192	T	.	.	.	0.228	0.52768	0.304	0.27325	0.845298154962	0.84382	0.5474738373067404	0.54673	0.430990020788	0.43319	0.96384203434	0.99944	D	0.095731	0.39681	T	-0.037313	0.46346	T	-0.291374	0.45630	T	0.920812785625458	0.58016	D	0.744226	0.36418	T	0.31781814	0.54454	0.3285908	0.58746	0.31781814	0.54454	0.3285908	0.58746	-3.999	0.25172	T	.	.	0.466	0.63004	A	.;.;.	.;.;.	3.572909	0.50333	22.9	0.9909890674360281	0.52421	0.69917	0.34379	D	AEFDBHCI	0.417000	0.48522	N	0.531786185945948	0.68982	5.292544	0.507447772168251	0.68489	5.227297	0.999999999999965	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	4.69	4.69	0.58546	2.303000	0.43307	5.642000	0.49152	0.495000	0.22486	0.993000	0.37899	1.000000	0.68203	0.914000	0.44937	0.0:1.0:0.0:0.0	15.530	0.75692	596	0.68392	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	154.98	20	chr1	27366450	.	C	A	154.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.437;DP=417;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.38;ReadPosRankSum=-1.594e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/0:21,0:21:63:0,63,568	20	0	1	0
chr1	27373228	27373228	C	T	exonic	FCN3	.	nonsynonymous SNV	FCN3:NM_173452:exon4:c.G268A:p.A90T	Immunodeficiency due to ficolin 3 deficiency, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.52	P	0.149	B	0.920	N	1.000	N	1.035	L	-1.09	T	-0.947	T	0.239	T	0.088	1.099	9.484	0.21	-0.117	-1.624	8.085	0.061	0.0211610092999	.	.	1.657e-05	0	8.645e-05	0	0	0	0	6.067e-05	1.29e-05	2	154602	rs749146507	9.577e-06	1.026e-05	4.084e-06	1.513e-05	6.956e-05	5.56e-06	4.35e-06	2.995e-05	2.038e-05	2.987e-05	2.236e-05	0	0	0	0	5.396e-06	0	6.956e-05	6.571e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.736	0.04226	T	0.566	0.08930	T	0.52	0.37518	P	0.149	0.34106	B	0.920433	0.08491	N	0.952504	1	0.08975	N	0.65	0.16133	N	-1.09	0.77206	T	-0.14	0.09135	N	0.104	0.13341	-0.9473	0.41431	T	0.239	0.60643	T	10	0.08215693	0.13530	T	0.021161	0.43885	T	0.061	0.17616	0.395	0.42099	0.663891511034	0.66106	0.34288823706604477	0.34201	0.130964207364	0.14771	0.277063697577	0.07086	T	0.028191	0.20479	T	-0.343745	0.05133	T	-0.550014	0.17325	T	0.0321264222485587	0.02326	T	0.193481	0.02277	T	0.19317082	0.41016	0.08538572	0.19711	0.19317082	0.41016	0.08538572	0.19711	-6.066	0.46828	T	.	.	0.073	0.05579	B	.;.	.;.	0.418058	0.07885	4.590	0.7968595995741562	0.12854	0.03063	0.07969	N	AEFDBHCI	0.263327	0.38090	N	-1.08350919953056	0.06946	0.3212605	-1.13527970601601	0.07035	0.3407389	0.998351669364671	0.36814	0.62174	0.39705	0	0.615948	0.52940	0	0.491614	0.08109	1	0.691587	0.68394	0	.	.	4.26	0.21	0.14507	-2.527000	0.01022	-1.224000	0.05978	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.198000	0.21837	0.0:0.635:0.0:0.365	8.085	0.29930	612	0.66786	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1031.98	35	chr1	27373228	.	C	T	1031.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.316e+00;DP=787;ExcessHet=0.0000;FS=1.771;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.00;ReadPosRankSum=-2.149e+00;SOR=0.979	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1160	20	0	1	0
chr1	27382622	27382622	T	C	exonic	CD164L2	.	nonsynonymous SNV	CD164L2:NM_001330448:exon2:c.A134G:p.N45S	.	.	428	1080	14	0	0	14	0.00643974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.986	D	0.848	P	0.016	N	0.919	N	1.6	L	1.04	T	-0.939	T	0.152	T	0.047	3.971	20.3	3.51	0.819	1.603	6.763	0.186	0.010628302748	0.0002	0.00119808	0.0008	9.942e-05	0.0002	0.0001	0	0.0004	0.0047	0.0034	0.0006598	102	154602	rs140169689	0.0004	0.0004	0.0003	0.0005	0.0094	0.0003	0.0003	0.0073	0.0065	0	0.0002	0	0	0	0.0094	0.0002	0.0009	0.0026	0.0003	0.0003	0.0002	0.0003	0.0031	0.0002	0.0002	0.0019	0.0015	2.408e-05	0	0.0002	0	0	0	0	0.0003	0	0.0031	0.008	0.58626	D	0.26	0.23298	T	0.986	0.61523	D	0.848	0.60574	P	0.015669	0.28183	N	0.251109	0.919343	0.27330	N	2.285	0.65182	M	1.04	0.40218	T	-0.27	0.11366	N	0.26	0.29429	-0.9393	0.42727	T	0.152	0.48135	T	10	0.011585534	0.00253	T	0.010628	0.27388	T	0.186	0.46104	.	.	0.545611132464	0.54216	0.2765596639845557	0.27568	0.147450757284	0.16638	0.516688346863	0.41160	T	0.004111	0.03522	T	-0.567833	0.00228	T	-0.59148	0.13538	T	0.0427860683289049	0.04198	T	0.822518	0.48242	T	0.06435776	0.13647	0.09246045	0.21791	0.06435776	0.13646	0.09246045	0.21790	-2.412	0.05207	T	.	.	0.131	0.28232	B	.;.	.;.	2.841763	0.37494	20.5	0.99801818508141793	0.88639	0.79222	0.39216	D	AEFBI	0.091932	0.18617	N	0.309072221702106	0.56613	3.826304	0.265049426994407	0.53511	3.519564	0.999609762953021	0.40866	0.676563	0.55306	0	0.547309	0.14657	0	0.673471	0.61138	0	0.542086	0.14980	0	.	.	4.64	3.51	0.39297	1.268000	0.32665	2.645000	0.33778	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.1061:0.0:0.8939	6.763	0.22737	624	0.65661	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1054.98	40	chr1	27382622	.	T	C	1054.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=850;ExcessHet=0.0000;FS=1.018;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.75;ReadPosRankSum=-7.410e-01;SOR=0.973	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr1	27393878	27393878	C	G	exonic	GPR3	.	nonsynonymous SNV	GPR3:NM_005281:exon2:c.C80G:p.A27G,	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.0	B	0.0	B	0.729	N	1.000	N	0.695	N	1.23	T	-1.021	T	0.045	T	0.093	-0.722	0.901	3.36	0.567	0.008	6.797	0.037	0.00726057483271	0.0012	0.00119808	0.0015	0.0002	0.0024	0	0.0006	0.0018	0	0.0018	0.0014618	226	154602	rs138953484	0.0018	0.0018	0.0018	0.0018	0.0022	0.0018	0.0017	0.0020	0.0019	0.0004	0.0022	0.0001	0	0.0007	0.0010	0.0020	0.0016	0.0015	0.0016	0.0016	0.0016	0.0017	0.0042	0.0015	0.0014	0.0034	0.0031	0.0004	0	0.0042	0	0	0.0005	0	0.0022	0.0033	0.0014	0.179	0.22053	T	0.36	0.16964	T	0.0	0.02946	B	0.0	0.01387	B	0.729138	0.06359	N	1.153230	1	0.08975	N	0.895	0.22405	L	1.23	0.36872	T	-0.48	0.15379	N	0.076	0.05037	-1.0207	0.23486	T	0.045	0.19397	T	10	0.0055892467	0.00124	T	0.007261	0.19253	T	0.037	0.09474	.	.	0.406120066682	0.40223	0.1735727624141538	0.17277	0.401579046037	0.41134	0.385993599892	0.23104	T	0.066	0.32909	T	-0.601775	0.00142	T	-0.643043	0.09449	T	0.00964939657668449	0.00126	T	0.485551	0.14815	T	0.058446955	0.11760	0.040383175	0.04352	0.058446955	0.11760	0.040383175	0.04352	-3.089	0.11170	T	.	.	0.076	0.05979	B	.	.	0.846619	0.12187	8.732	0.92882822506725715	0.22432	0.22870	0.21890	N	AEFDGBCIJ	0.082401	0.16684	N	-0.881558662294938	0.11282	0.5436027	-0.855565912410039	0.13153	0.6808289	0.999997795868609	0.74766	0.741868	0.97996	0	0.593476	0.48661	0	0.774882	0.98623	0	0.622129	0.49086	0	.	.	5.31	3.36	0.37579	0.306000	0.19030	1.072000	0.23814	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.146000	0.20164	0.1442:0.6985:0.0:0.1573	6.797	0.22915	641	0.64016	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	918.98	35	chr1	27393878	.	C	G	918.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.00;DP=758;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.59;ReadPosRankSum=1.30;SOR=0.614	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1113	20	0	1	0
chr1	27547938	27547938	C	T	exonic	AHDC1	.	nonsynonymous SNV	AHDC1:NM_001029882:exon6:c.G4178A:p.G1393D	Xia-Gibbs syndrome, Autosomal dominant	.	428	1090	4	0	0	4	0.0018315	.	.	696667	AHDC1-related_disorder|not_provided|AHDC1-related_intellectual_disability_-_obstructive_sleep_apnea_-_mild_dysmorphism_syndrome	.|MedGen:C3661900|MONDO:MONDO:0014358,MedGen:C4014419,OMIM:615829,Orphanet:412069	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.04	D	0.998	D	0.961	D	0.000	D	1.000	D	0.55	N	0.77	T	-0.753	T	0.193	T	0.681	2.556	14.51	5.67	2.697	3.065	18.542	0.179	0.0236608352276	7.7e-05	0.000399361	0.0006	0.0001	0.0004	0	0	0.0001	0.0013	0.0054	0.0005175	80	154602	rs148277570	0.0003	0.0003	0.0002	0.0004	0.0033	0.0003	0.0003	0.0030	0.0029	0	0.0002	4.069e-05	0	0	0.0033	8.133e-05	0.0004	0.0033	0.0002	0.0002	0.0001	0.0002	0.0031	0.0001	9.698e-05	0.0019	0.0015	4.813e-05	0	6.536e-05	0	0	0	0.0034	8.823e-05	0	0.0031	0.008	0.58626	D	0.027	0.55341	D	0.998	0.73220	D	0.961	0.70482	D	0.000000	0.84330	D	0.000000	0.999839	0.49637	D	0.695	0.17993	N	0.77	0.49642	T	-0.41	0.14000	N	0.449	0.52029	-0.7528	0.57789	T	0.193	0.54550	T	10	0.0105754435	0.00235	T	0.023661	0.46630	T	0.179	0.44899	.	.	0.117191471859	0.11215	0.36060865273205067	0.35974	1.76187023795	0.91143	0.821851015091	0.85312	D	0.034867	0.23493	T	-0.29674	0.08970	T	-0.200179	0.54630	T	0.0346778382023893	0.02754	T	0.774523	0.40643	T	0.2256306	0.45228	0.34661084	0.60327	0.2256306	0.45228	0.34661084	0.60326	-4.633	0.32583	T	.	.	0.439	0.61649	A	.;.;.;.;.	.;.;.;.;.	4.336596	0.66495	25.0	0.99550060458433642	0.71086	0.90399	0.51544	D	AEFDBI	0.416376	0.48486	N	0.507976588863006	0.67560	5.098009	0.543992680090711	0.70980	5.58576	0.99999993523947	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.67	5.67	0.87673	3.208000	0.50816	7.630000	0.62690	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.636000	0.32315	0.0:1.0:0.0:0.0	18.542	0.90984	424	0.81215	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1670.98	48	chr1	27547938	.	C	T	1670.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.336e+00;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.53;ReadPosRankSum=0.314;SOR=0.737	GT:AD:DP:GQ:PL	0/1:54,61:115:99:1685,0,1516	20	0	1	0
chr1	27550705	27550705	C	T	exonic	AHDC1	.	nonsynonymous SNV	AHDC1:NM_001029882:exon6:c.G1411A:p.V471M	Xia-Gibbs syndrome, Autosomal dominant	YES	419	1101	2	0	0	2	0.000907441	.	.	363798	not_provided|AHDC1-related_intellectual_disability_-_obstructive_sleep_apnea_-_mild_dysmorphism_syndrome|AHDC1-related_disorder	MedGen:C3661900|MONDO:MONDO:0014358,MedGen:C4014419,OMIM:615829,Orphanet:412069|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.907	P	0.008	U	0.999	D	0.55	N	0.34	T	-0.827	T	0.131	T	0.169	3.296	17.07	4.42	1.483	1.636	9.960	0.122	.	0.0079	0.00119808	0.0081	0.0022	0.0029	0	0.0051	0.0132	0.0109	0.0004	0.0059702	923	154602	rs147276945	0.0087	0.0087	0.0089	0.0085	0.0103	0.0086	0.0085	0.0101	0.0101	0.0013	0.0017	0.0195	0.0006	0.0034	0.0012	0.0103	0.0064	0.0003	0.0061	0.0061	0.0063	0.0059	0.0104	0.0058	0.0057	0.0097	0.0095	0.0023	0	0.0020	0.0179	0.0004	0.0022	0	0.0104	0.0047	0.0006	0.002	0.72154	D	0.122	0.35710	T	0.998	0.73220	D	0.907	0.64423	P	0.008091	0.31024	U	0.119263	0.999115	0.46101	D	0.695	0.17993	N	0.34	0.58176	T	-0.47	0.15178	N	0.439	0.47765	-0.8274	0.53467	T	0.131	0.44228	T	10	0.00791198	0.00180	T	.	.	.	0.122	0.33800	.	.	0.202312658747	0.19855	0.75339258385176	0.75286	1.35417442726	0.84148	0.58750295639	0.51141	T	0.043653	0.26569	T	-0.44718	0.01173	T	-0.404089	0.32910	T	0.00975113272520393	0.00128	T	0.777822	0.41150	T	0.11213909	0.26494	0.11305348	0.27281	0.092321746	0.21656	0.11687025	0.28212	-7.211	0.55560	T	.	.	0.212	0.44108	B	.;.;.;.;.	.;.;.;.;.	3.284293	0.45011	22.0	0.99870631301675705	0.94815	0.83379	0.42501	D	AEFBHCI	0.265375	0.38252	N	0.314897223366755	0.56913	3.856865	0.323558041132368	0.56927	3.856949	0.999999599768956	0.74766	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.32	4.42	0.52775	1.442000	0.34656	4.851000	0.45376	0.589000	0.31548	0.669000	0.28339	1.000000	0.68203	0.961000	0.51904	0.0:0.8379:0.0:0.1621	9.960	0.40861	414	0.81871	.;.;.;.;.	.	.	.	.	rs147276945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	950.98	42	chr1	27550705	.	C	T	950.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.776;DP=918;ExcessHet=0.0000;FS=2.828;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=0.161;SOR=0.920	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr1	27879739	27879739	T	C	exonic	THEMIS2	.	nonsynonymous SNV	THEMIS2:NM_001105556:exon3:c.T331C:p.F111L	.	.	426	1090	6	0	0	6	0.00274474	.	.	696674	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.99	D	0.814	P	0.000	D	1.000	N	2.42	M	2.5	T	-0.971	T	0.051	T	0.312	2.165	13.20	3.55	0.743	2.819	7.907	0.173	.	0.0098	0.00259585	0.0083	0.0012	0.0053	0.0001	0.0086	0.0127	0.0099	0.0015	0.0083246	1287	154602	rs41284294	0.0098	0.0098	0.0100	0.0096	0.0112	0.0097	0.0096	0.0110	0.0109	0.0019	0.0061	0.0154	0	0.0101	0.0021	0.0112	0.0079	0.0018	0.0073	0.0073	0.0076	0.0071	0.0114	0.0070	0.0068	0.0107	0.0104	0.0014	0.0110	0.0070	0.0153	0	0.0084	0.0102	0.0114	0.0062	0.0019	0.005	0.63226	D	0.048	0.55759	D	0.869	0.63424	P	0.327	0.58796	B	0.000000	0.84330	D	0.050363	1	0.81001	D	3.03	0.86425	M	2.5	0.14408	T	-3.61	0.74582	D	0.762	0.76019	-0.9710	0.36988	T	0.051	0.21806	T	10	0.005374044	0.00118	T	.	.	.	0.173	0.43840	0.53	0.63707	0.18995819373	0.18626	0.7726915594272604	0.77219	0.929494865286	0.71766	0.562230110168	0.47582	T	0.208083	0.56791	T	-0.477087	0.00769	T	-0.447048	0.28023	T	0.059904951549998	0.07154	T	0.750125	0.37153	T	0.48391196	0.66137	0.34720334	0.60377	0.48391196	0.66137	0.34720334	0.60377	-1.819	0.04031	T	.	.	0.933	0.85237	P	.;.;.;.	.;.;.;.	2.392179	0.30723	18.52	0.98655235456882096	0.44247	0.89651	0.50252	D	AEFDBHCI	0.317954	0.42180	N	-0.0552436688864967	0.39368	2.320491	-0.119139896651142	0.34619	1.993401	0.999997042914475	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.7	3.55	0.39770	2.830000	0.47837	6.044000	0.53039	-0.136000	0.12710	0.999000	0.42656	1.000000	0.68203	0.010000	0.09038	0.1833:0.0:0.0:0.8167	7.907	0.28932	327	0.86637	.;.;.;CABIT domain	FAM76A	Thyroid	.	.	rs41284294	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1507.98	33	chr1	27879739	.	T	C	1507.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.760e-01;DP=852;ExcessHet=0.0000;FS=0.611;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.92;ReadPosRankSum=-8.000e-02;SOR=0.779	GT:AD:DP:GQ:PL	0/1:86,66:152:99:1522,0,2130	20	0	1	0
chr1	27885354	27885354	C	T	exonic	THEMIS2	.	nonsynonymous SNV	THEMIS2:NM_001039477:exon3:c.C295T:p.L99F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.009	B	0.007	B	.	.	1.000	N	.	.	.	.	-1.013	T	0.048	T	.	1.145	9.663	-1.84	-0.377	-1.484	2.157	0.005	0.00563123186706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.48186	D	0.039	0.51112	D	0.009	0.15093	B	0.007	0.12992	B	.	.	.	.	1	0.19072	N	.	.	.	.	.	.	-1.21	0.37566	N	0.111	0.10483	-1.0132	0.25912	T	0.048	0.20632	T	7	0.054255098	0.05747	T	0.005631	0.14560	T	0.012	0.01476	0.185	0.09388	0.0297737177859	0.01360	.	.	.	.	.	.	.	.	.	.	-0.173307	0.24735	T	-0.48672	0.23735	T	0.0442928969860077	0.04474	T	0.464054	0.13535	T	.	.	.	.	.	.	.	.	-5.612	0.42901	T	.	.	0.090	0.12797	B	.;.	.;.	-0.127752	0.03481	0.649	0.90888404165605985	0.20137	0.06139	0.12118	N	AEFDGBCIJ	0.031523	0.03388	N	-0.925249348750502	0.10254	0.4891224	-1.12340454148676	0.07254	0.3521881	0.999987135106083	0.51787	0.730579	0.87903	0	0.749866	0.99406	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	3.55	-1.84	0.07387	-1.276000	0.02923	-0.616000	0.08197	-0.223000	0.07921	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.3152:0.2765:0.3087:0.0997	2.157	0.03582	352	0.85375	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	373.98	45	chr1	27885354	.	C	T	373.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.97;DP=754;ExcessHet=0.0000;FS=5.816;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.56;ReadPosRankSum=0.532;SOR=1.326	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1199	20	0	1	0
chr1	27955748	27955748	G	A	exonic	SMPDL3B	.	nonsynonymous SNV	SMPDL3B:NM_001009568:exon6:c.G755A:p.R252Q	.	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	1.0	D	0.99	D	0.000	D	0.721	D	2.465	M	-2.42	D	0.669	D	0.794	D	0.223	2.636	14.78	3.45	0.248	4.216	14.689	0.426	0.0557122219142	0.0012	0.00179712	0.0024	9.614e-05	0	0.0003	0.0029	0.0024	0.0044	0.0067	0.0021798	337	154602	rs144208397	0.0019	0.0019	0.0017	0.0021	0.0064	0.0018	0.0018	0.0059	0.0057	0.0002	0.0001	0.0126	2.519e-05	0.0036	0.0033	0.0014	0.0020	0.0064	0.0015	0.0015	0.0013	0.0018	0.0064	0.0014	0.0013	0.0047	0.0040	0.0002	0	0.0002	0.0132	0.0008	0.0039	0	0.0014	0.0019	0.0064	0.032	0.44694	D	0.158	0.31629	T	1.0	0.90584	D	0.99	0.78936	D	0.000014	0.62929	D	0.106889	0.720989	0.33617	D	2.605	0.76211	M	-2.42	0.88611	D	-3.0	0.62343	D	0.233	0.31253	0.669	0.92788	D	0.794	0.93004	D	10	0.008205473	0.00186	T	0.055712	0.66336	D	0.426	0.73372	.	.	0.977243864315	0.97699	0.7132078790257588	0.71263	0.336874840187	0.35684	0.217526227236	0.01172	T	0.359239	0.72567	T	-0.309199	0.07818	T	-0.213891	0.53323	T	0.0824133426847049	0.10294	T	0.772623	0.40374	T	0.19201049	0.40852	0.16235138	0.37716	0.19201049	0.40852	0.16235138	0.37715	-6.834	0.53639	T	.	.	0.127	0.26917	B	.;.;.	.;.;.	3.086337	0.41541	21.4	0.99600632141617196	0.74160	0.90098	0.51013	D	AEFDBI	0.457220	0.50875	N	-0.149063258425961	0.35274	2.024037	-0.240162934899754	0.30111	1.692654	0.982420893175803	0.30397	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	5.34	3.45	0.38602	4.313000	0.58952	5.092000	0.47362	-0.104000	0.15758	1.000000	0.71638	1.000000	0.68203	0.017000	0.10941	0.1337:0.0:0.8663:0.0	14.689	0.68681	504	0.75712	Calcineurin-like phosphoesterase domain, ApaH type;.;Calcineurin-like phosphoesterase domain, ApaH type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1768.98	37	chr1	27955748	.	G	A	1768.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.728;DP=911;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.20;ReadPosRankSum=0.556;SOR=0.679	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1067	20	0	1	0
chr1	27960209	27960209	-	GCTGGT	exonic	XKR8	.	nonframeshift insertion	XKR8:NM_018053:exon1:c.140_141insGCTGGT:p.L50_A51insVL,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2070.05	33	chr1	27960209	.	C	CGCTGGT	2070.05	.	AC=2;AF=0.048;AN=42;DP=739;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=26.85;SOR=1.179	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1055	20	1	0	0
chr1	27966862	27966862	C	T	exonic	XKR8	.	nonsynonymous SNV	XKR8:NM_018053:exon3:c.C850T:p.R284W,	.	.	.	.	.	.	.	.	.	.	.	2397715	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	1.0	D	0.999	D	0.000	D	1.000	D	3.08	M	-0.34	T	0.161	D	0.556	D	0.862	3.887	19.76	4.73	2.460	2.157	17.884	0.554	0.090390089332	7.7e-05	.	2.498e-05	9.827e-05	0	0	0	3.026e-05	0	0	1.94e-05	3	154602	rs373110864	5.473e-06	5.472e-06	5.445e-06	5.501e-06	0.0002	2.35e-06	1.7e-06	9.89e-06	3.7e-06	5.974e-05	0	0	0	0	0.0002	8.993e-07	6.624e-05	0	3.941e-05	3.94e-05	6.421e-05	1.345e-05	0.0001	1.715e-05	1.129e-05	4.737e-05	3.052e-05	0.0001	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.955	0.85029	M	-0.34	0.68474	T	-6.62	0.92128	D	0.76	0.75834	0.161	0.85252	D	0.556	0.83775	D	10	0.868068	0.86059	D	0.09039	0.75509	D	0.554	0.81601	.	.	0.712799843107	0.71028	0.9101957929875304	0.90993	1.31041009632	0.83197	0.56376105547	0.47798	T	0.432958	0.78055	T	0.0992769	0.64215	D	0.184263	0.82241	D	0.986052393913269	0.76874	D	0.893911	0.63238	D	0.79152673	0.83369	0.74643755	0.85012	0.79152673	0.83370	0.74643755	0.85013	-9.507	0.70903	D	.	.	0.260	0.49480	B	.	.	5.361419	0.89912	31	0.99924147919662265	0.98980	0.97090	0.72631	D	AEFDBI	0.765265	0.70181	D	0.678020779597527	0.78193	6.822352	0.588037056734303	0.74081	6.076778	0.999999832894926	0.74766	0.675385	0.55134	0	0.577304	0.33150	0	0.693117	0.63056	0	0.635551	0.53088	0	.	.	4.73	4.73	0.59485	2.867000	0.48126	7.612000	0.61951	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.853000	0.40368	0.0:1.0:0.0:0.0	17.884	0.88763	568	0.70638	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1310.98	33	chr1	27966862	.	C	T	1310.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=818;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.94;MQRankSum=0.00;QD=10.83;ReadPosRankSum=0.395;SOR=0.720	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1196	20	0	1	0
chr1	28150041	28150041	T	G	exonic	PTAFR	.	nonsynonymous SNV	PTAFR:NM_000952:exon2:c.A981C:p.E327D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.001	B	0.003	B	0.059	N	0.998	N	0	N	-0.58	T	-1.058	T	0.089	T	0.033	0.802	8.218	-8.42	-1.474	-2.394	2.021	0.032	0.0280112493903	.	.	8.271e-06	0	0	0	0	0	0	6.165e-05	6.5e-06	1	154602	rs764390869	5.473e-06	5.472e-06	2.723e-06	8.251e-06	0.0002	2.35e-06	1.7e-06	3.766e-05	2.662e-05	0	0	0	0	0	0.0002	0	0	8.116e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.16144	T	0.142	0.33330	T	0.001	0.07471	B	0.003	0.08700	B	0.058664	0.22384	N	0.473261	0.998016	0.22395	N	0.895	0.22405	L	-0.58	0.71425	T	-0.39	0.13611	N	0.076	0.07125	-1.0583	0.12184	T	0.089	0.34408	T	10	0.055066317	0.05959	T	0.028011	0.50746	D	0.032	0.07718	0.326	0.30873	0.482137172311	0.47843	0.21375789414222332	0.21291	0.449725329957	0.44755	0.326200455427	0.14360	T	0.084784	0.37355	T	-0.424829	0.01594	T	-0.64536	0.09283	T	0.0700087964966315	0.08653	T	0.39556	0.09932	T	0.028292391	0.02144	0.026674286	0.00770	0.028292391	0.02144	0.026674286	0.00770	-4.322	0.28484	T	.	.	0.071	0.03925	B	.;.;.	.;.;.	-1.390185	0.00367	0.007	0.89060397964612936	0.18478	0.04479	0.10092	N	AEFBI	0.130936	0.24969	N	-1.80557319889345	0.00532	0.02288944	-1.86457406788037	0.00574	0.02546874	0.999949104174323	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.38	-8.42	0.00836	-2.543000	0.01010	-9.454000	0.00819	-0.980000	0.01901	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.372:0.3133:0.1888:0.126	2.021	0.03295	379	0.83778	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1787.98	34	chr1	28150041	.	T	G	1787.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.581;DP=881;ExcessHet=0.0000;FS=5.760;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.77;ReadPosRankSum=-2.700e-01;SOR=1.127	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr1	28466441	28466441	C	T	exonic	PHACTR4	.	nonsynonymous SNV	PHACTR4:NM_023923:exon5:c.C526T:p.P176S	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.073	B	0.053	B	0.690	N	0.982	N	0.345	N	1.96	T	-1.031	T	0.039	T	0.171	0.449	6.436	4.49	1.236	3.235	13.120	0.058	0.00720228307105	0.0006	.	0.0004	0	0	0	0	0.0007	0.0011	0	0.0003946	61	154602	rs202232228	0.0003	0.0003	0.0003	0.0003	0.0007	0.0003	0.0003	0.0002	0.0001	0	0.0002	0.0102	0	1.872e-05	0.0007	0.0001	0.0011	4.637e-05	0.0004	0.0004	0.0004	0.0004	0.0003	0.0003	0.0003	0.0002	0.0002	0	0	0	0.0130	0	0	0	0.0003	0.0005	0	0.004	0.65419	D	0.275	0.22359	T	0.006	0.24078	B	0.01	0.25678	B	0.690422	0.10180	N	0.869306	0.982127	0.24987	N	0.345	0.11182	N	1.96	0.22881	T	-0.27	0.11366	N	0.19	0.20793	-1.0308	0.20195	T	0.039	0.16849	T	10	0.006074846	0.00137	T	0.007202	0.19089	T	0.058	0.16647	.	.	0.403752378121	0.39992	0.22529675408730498	0.22444	0.0808118866338	0.09095	0.306109637022	0.11320	T	0.067512	0.33222	T	-0.411803	0.01934	T	-0.53311	0.18976	T	0.0608034796730617	0.07294	T	0.774123	0.41422	T	0.045644816	0.07508	0.060120184	0.11399	0.045644816	0.07508	0.060120184	0.11398	-4.353	0.28996	T	.	.	0.076	0.08560	B	.;.;.	.;.;.	2.456983	0.31646	18.80	0.29905713990727167	0.01609	0.97800	0.77226	D	AEFDBI	0.344998	0.44030	N	-0.37871049821767	0.26229	1.429897	-0.164891580200996	0.32839	1.872342	0.999644835250064	0.41316	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.42	4.49	0.54177	3.617000	0.53923	3.292000	0.37313	-0.180000	0.10397	0.999000	0.42656	1.000000	0.68203	0.518000	0.29429	0.0:0.839:0.161:0.0	13.120	0.58738	592	0.68746	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2258.98	34	chr1	28466441	.	C	T	2258.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.405;DP=903;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=-1.249e+00;SOR=0.711	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1301	20	0	1	0
chr1	28529938	28529938	G	C	exonic	RCC1	.	nonsynonymous SNV	RCC1:NM_001048194:exon2:c.G72C:p.K24N	.	.	.	.	.	.	.	.	.	0.0005	0.18	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.998	D	0.967	D	0.000	D	0.796	D	0	N	0.87	T	-0.338	T	0.360	T	0.312	3.793	19.26	0.591	0.290	0.007	6.317	0.385	0.0722973044124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.61437	D	0.013	0.92824	D	0.998	0.73220	D	0.967	0.71530	D	0.000000	0.84330	D	0.000000	0.79565	0.34444	D	0.975	0.24501	L	-1.42	0.80645	T	-2.69	0.57435	D	0.534	0.59816	-0.3382	0.73896	T	0.360	0.72216	T	10	0.3560201	0.52350	T	0.072297	0.71496	D	0.385	0.70194	0.466	0.53729	0.810979576649	0.80920	0.4355928167309696	0.43476	1.08794106341	0.77349	0.71510207653	0.69333	T	0.171459	0.51959	T	-0.0209551	0.48717	T	-0.267877	0.48035	T	0.966483950614929	0.67598	D	0.647135	0.26150	T	0.8713628	0.88969	0.54599774	0.73756	0.8713628	0.88971	0.54599774	0.73757	-4.422	0.41312	T	.	.	0.469	0.83749	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.349977	0.46200	22.3	0.9977828321055946	0.86519	0.71592	0.35080	D	AEFDBI	0.232333	0.35542	N	0.0636588868213935	0.44772	2.745291	0.054517838595966	0.42291	2.555406	0.945564337054047	0.27666	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.17	0.591	0.16648	0.093000	0.14925	1.729000	0.28315	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.991000	0.66497	0.4743:0.0:0.5257:0.0	6.317	0.20404	509	0.75304	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.06667	90.84	80	chr1	28529938	.	G	C	90.84	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-1.742e+00;DP=1197;ExcessHet=0.1072;FS=189.759;InbreedingCoeff=-0.1499;MLEAC=3;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=0.48;ReadPosRankSum=0.766;SOR=8.379	GT:AD:DP:GQ:PL	0/1:74,24:100:66:66,0,1317	13	0	2	6
chr1	28593954	28593954	A	G	exonic	RAB42	.	nonsynonymous SNV	RAB42:NM_001193532:exon2:c.A494G:p.N165S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.685	M	-1.59	D	0.592	D	0.723	D	0.258	2.500	14.32	5.56	2.112	5.886	13.649	0.718	0.104812545182	.	.	1.685e-05	9.868e-05	0	0.0001	0	0	0	0	1.29e-05	2	154602	rs776614667	6.157e-06	6.156e-06	4.084e-06	8.252e-06	0.0002	2.9e-06	2.1e-06	3.85e-06	1.44e-06	2.988e-05	0	0	2.519e-05	0	0.0002	3.598e-06	0	2.319e-05	2.636e-05	2.629e-05	3.864e-05	1.349e-05	9.687e-05	8.16e-06	5.15e-06	3.257e-05	1.92e-05	9.687e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.01	0.65728	D	.	.	.	.	.	.	0.000017	0.62929	D	0.000000	1	0.81001	D	2.55	0.74443	M	-1.59	0.82076	D	-4.77	0.80425	D	0.3	0.33904	0.592	0.91797	D	0.723	0.90503	D	10	0.92921495	0.92264	D	0.104813	0.77960	D	0.718	0.90011	0.878	0.96734	0.960128601513	0.95970	0.5420636660812783	0.54131	0.19818247753	0.22196	0.433256924152	0.29654	T	.	.	.	-0.0831432	0.39202	T	-0.175678	0.56922	T	0.735652446746826	0.42505	D	0.734827	0.35112	T	0.17302096	0.38026	0.26925507	0.52804	0.17302096	0.38025	0.26925507	0.52803	-7.366	0.56664	T	.	.	0.108	0.20586	B	.;.	.;.	2.788579	0.36647	20.3	0.99446774859298603	0.65071	0.95603	0.65383	D	AEFDGBHCI	0.795953	0.72323	D	0.663536502016085	0.77246	6.638245	0.580426263068646	0.73538	5.986777	0.999999999999921	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.26897	0.05253	2	0.664235	0.64389	0	.	.	5.56	5.56	0.83678	5.876000	0.69414	2.172000	0.31062	0.756000	0.94297	1.000000	0.71638	0.703000	0.26245	0.835000	0.39381	1.0:0.0:0.0:0.0	13.649	0.61775	501	0.75956	.;Small GTP-binding protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1114.98	34	chr1	28593954	.	A	G	1114.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.95;DP=813;ExcessHet=0.0000;FS=1.620;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.29;MQRankSum=0.409;QD=10.62;ReadPosRankSum=-1.900e-01;SOR=0.929	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1313	20	0	1	0
chr1	29070593	29070593	T	C	exonic	EPB41	.	nonsynonymous SNV	EPB41:NM_001376016:exon18:c.T2465C:p.V822A	Elliptocytosis-1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42774054	0.57286	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242976	0.03512	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.39494	B	.;.;.	.;.;.	3.228788	0.44022	21.9	0.84767869384258832	0.15486	0.94921	0.62793	D	AEFBI	.	.	.	.	.	.	.	.	.	0.99510039121712	0.33954	0.099367	0.02607	0	0.097471	0.02872	0	0.060301	0.00762	0	0.117559	0.03655	0	0.952	0.62432	5.52	5.52	0.82153	5.643000	0.67569	7.880000	0.72453	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.976	0.70930	443	0.79878	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	36.03	3	chr1	29070593	.	T	C	36.03	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-9.670e-01;DP=48;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=0.111;MQ=60.00;MQRankSum=0.00;QD=12.01;ReadPosRankSum=-9.670e-01;SOR=0.223	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,14	8	0	1	12
chr1	29120948	29120948	T	C	exonic	TMEM200B	.	nonsynonymous SNV	TMEM200B:NM_001003682:exon2:c.A881G:p.Y294C	.	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.532	P	0.1	B	0.002	U	0.820	D	0.805	L	.	.	-0.922	T	0.074	T	0.676	2.065	12.86	4.26	1.904	6.384	7.835	0.204	.	.	0.00559105	0.0023	0	9.464e-05	0	0	0	0.0014	0.0169	0.0018564	287	154602	rs372915330	0.0008	0.0008	0.0004	0.0012	0.0128	0.0008	0.0008	0.0122	0.0119	0	2.245e-05	0	2.524e-05	0	0.0016	9.004e-06	0.0009	0.0128	0.0006	0.0006	0.0003	0.0008	0.0172	0.0005	0.0004	0.0142	0.0131	4.813e-05	0	0	0	0	0	0	0	0	0.0172	0.0	0.91255	D	0.0	0.92824	D	0.532	0.37747	P	0.1	0.30674	B	0.001598	0.38554	U	0.000000	0.820262	0.34766	D	0.695	0.17993	N	.	.	.	-3.46	0.67705	D	0.655	0.66529	-0.9221	0.45265	T	0.074	0.29897	T	9	0.0070127845	0.00160	T	.	.	.	0.204	0.49076	0.37	0.38013	0.183819452728	0.17975	0.23598917739909941	0.23513	1.0423310772	0.75843	0.903025686741	0.96768	D	0.11088	0.42593	T	-0.160661	0.26657	T	0.0087697	0.70902	D	0.231583032658326	0.22027	T	0.752425	0.37456	T	0.49398753	0.66740	0.28777644	0.54791	0.49398753	0.66740	0.28777644	0.54790	-3.348	0.14364	T	.	.	0.777	0.76259	P	.;.	.;.	4.108607	0.61322	24.3	0.98963794970016949	0.49383	0.94645	0.61845	D	AEFDBCI	0.802187	0.72768	D	0.123220253849813	0.47548	2.978939	0.232161900635348	0.51640	3.344846	0.999999925936219	0.74766	0.72623	0.87236	0	0.514364	0.08380	0	0.594344	0.31042	0	0.562822	0.20929	0	.	.	4.26	4.26	0.49832	6.798000	0.74941	7.869000	0.71860	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0934:0.0:0.9066	7.835	0.28525	579	0.69780	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1252.98	33	chr1	29120948	.	T	C	1252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.83;DP=799;ExcessHet=0.0000;FS=1.680;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=-4.660e-01;SOR=0.889	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1106	20	0	1	0
chr1	29121496	29121496	G	T	exonic	TMEM200B	.	nonsynonymous SNV	TMEM200B:NM_001003682:exon2:c.C333A:p.H111Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.665	P	0.645	P	0.783	U	0.682	N	0.69	N	.	.	-0.936	T	0.109	T	0.263	0.497	6.695	2.68	0.845	0.421	7.404	0.105	0.503310792359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.188e-06	2.052e-06	2.876e-06	1.48e-06	2.549e-05	5.8e-07	1.6e-07	4.23e-06	1.58e-06	0	0	0	0	0	0	9.328e-07	0	2.549e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.45393	D	0.03	0.54159	D	0.665	0.41045	P	0.645	0.52270	P	0.782758	0.09458	U	0.861575	0.682192	0.30268	N	1.39	0.34934	L	.	.	.	-0.24	0.10833	N	0.151	0.15469	-0.9363	0.43195	T	0.109	0.39415	T	9	0.22330481	0.39105	T	0.503311	0.95187	D	0.105	0.29889	0.41	0.44559	0.0986583533028	0.09354	0.49207230465119717	0.49128	1.08704428983	0.77318	0.87328004837	0.93034	D	0.06174	0.31733	T	-0.123376	0.32572	T	-0.414997	0.31651	T	0.153108142345007	0.17349	T	0.380662	0.09189	T	0.091480896	0.21436	0.089413054	0.20908	0.091480896	0.21436	0.089413054	0.20908	-3.002	0.10202	T	.	.	0.142	0.31228	B	.;.	.;.	2.101982	0.26743	17.22	0.73224043759663704	0.10251	0.70760	0.34725	D	AEFDBHCIJ	0.360147	0.45022	N	-0.35479392712963	0.27097	1.483951	-0.371813917804481	0.25840	1.423591	0.999999997381287	0.74766	0.652421	0.48094	0	0.596394	0.48810	0	0.64067	0.45733	0	0.636	0.56748	0	.	.	3.6	2.68	0.30839	0.150000	0.16082	0.645000	0.20357	-0.301000	0.06190	0.221000	0.24547	0.995000	0.32472	0.942000	0.48361	0.2188:0.0:0.7812:0.0	7.404	0.26154	583	0.69484	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	628.98	33	chr1	29121496	.	G	T	628.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.95;DP=723;ExcessHet=0.0000;FS=5.222;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.06;ReadPosRankSum=-1.142e+00;SOR=1.093	GT:AD:DP:GQ:PL	0/0:32,0:32:78:0,78,1170	20	0	1	0
chr1	29148778	29148778	-	GCTGCG	exonic	SRSF4	.	nonframeshift insertion	SRSF4:NM_005626:exon6:c.1116_1117insCGCAGC:p.S372_K373insRS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0.0008	0	8.807e-05	0	0	6.127e-05	0.0022	0.0054	0.0001921	5	26028	rs537977363	0.0004	0.0004	0.0002	0.0005	0.0049	0.0003	0.0003	0.0045	0.0043	8.963e-05	6.71e-05	0	2.519e-05	1.881e-05	0.0003	8.725e-05	0.0003	0.0049	0.0002	0.0002	0.0002	0.0003	0.0054	0.0002	0.0002	0.0038	0.0032	9.636e-05	0	6.55e-05	0	0.0002	0	0	4.413e-05	0.0005	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1161.94	35	chr1	29148778	.	T	TGCTGCG	1161.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.780e-01;DP=876;ExcessHet=0.0000;FS=1.941;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.90;ReadPosRankSum=-1.941e+00;SOR=0.479	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,111,1661	20	0	1	0
chr1	29279033	29279033	A	C	exonic	PTPRU	.	nonsynonymous SNV	PTPRU:NM_001195001:exon9:c.A1475C:p.E492A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.999	D	0.000	D	1.000	D	2.125	M	0.64	T	-0.545	T	0.291	T	0.596	3.972	20.3	5.75	2.192	9.278	15.230	0.460	0.0403148726591	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.955e-07	6.84e-07	0	1.402e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.682e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.55530	D	0.003	0.76473	D	0.999	0.77913	D	0.999	0.92359	D	0.000011	0.62929	D	0.065249	1	0.81001	D	1.865	0.49290	L	0.64	0.52867	T	-4.09	0.74821	D	0.608	0.66016	-0.5449	0.66978	T	0.291	0.66316	T	9	0.6366019	0.68817	D	0.040315	0.59308	D	0.460	0.75755	0.425	0.47021	0.367638622828	0.36380	0.5581836534350619	0.55745	1.26243223783	0.82077	0.749131679535	0.74318	T	0.335952	0.70551	T	0.037897	0.56770	T	-0.18334	0.56211	T	0.983167522394134	0.74933	D	0.89781	0.64256	D	0.2773714	0.50795	0.28455254	0.54455	0.2773714	0.50795	0.28455254	0.54454	-9.045	0.68057	D	.	.	0.146	0.37464	B	.;.;.;.	.;.;.;.	4.310324	0.65883	24.9	0.99621748187133408	0.75473	0.99782	0.99427	D	AEFBI	0.942030	0.94607	D	0.712018896990165	0.80422	7.290332	0.684840130914072	0.81228	7.477806	0.999999997136311	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.579976	0.35079	0	.	.	5.75	5.75	0.90390	9.255000	0.94710	11.283000	0.91806	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.623000	0.31974	1.0:0.0:0.0:0.0	15.230	0.73070	370	0.84343	Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2656.08	35	chr1	29279033	.	A	C	2656.08	.	AC=2;AF=0.048;AN=42;DP=787;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.88;SOR=1.329	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1165	20	1	0	0
chr1	30876715	30876715	G	A	exonic	SDC3	.	nonsynonymous SNV	SDC3:NM_014654:exon3:c.C707T:p.A236V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.0	B	0.002	B	0.847	N	1.000	N	0	N	2.01	T	-0.988	T	0.019	T	0.033	-1.490	0.017	-4.47	-0.647	-0.072	3.258	0.002	0.00300035185241	.	.	8.296e-05	0.0001	0	0	0	0	0	0.0007	3.84e-05	1	26028	rs771589440	5.957e-05	6.772e-05	3.439e-05	8.512e-05	0.0008	4.938e-05	4.553e-05	0.0006	0.0006	0.0002	0	0	0	0	0	1.088e-05	3.37e-05	0.0008	5.913e-05	5.909e-05	5.139e-05	6.724e-05	0.0006	3.077e-05	2.21e-05	0.0002	8.977e-05	7.239e-05	0	0	0	0	0	0	4.41e-05	0	0.0006	1.0	0.00964	T	0.33	0.18560	T	0.0	0.02946	B	0.001	0.06944	B	0.847037	0.08990	N	0.921115	1	0.08975	N	-0.345	0.03330	N	2.01	0.21291	T	-0.07	0.10136	N	0.011	0.00308	-0.9883	0.33027	T	0.019	0.07986	T	10	0.012984306	0.00277	T	0.003	0.06427	T	0.002	0.00045	0.411	0.44723	0.0675242888579	0.06100	0.1838747080437411	0.18306	0.066999160328	0.07481	0.45295214653	0.32347	T	0.168696	0.51580	T	-0.639757	0.00084	T	-0.798162	0.01949	T	0.00573741776261908	0.00063	T	0.608239	0.24364	T	0.0222086	0.00869	0.03487395	0.02633	0.0222086	0.00869	0.03487395	0.02633	-4.336	0.28678	T	.	.	0.060	0.01348	B	.;.	.;.	0.574737	0.09432	6.211	0.23995931747144675	0.01040	0.00626	0.02758	N	AEFBI	0.054291	0.09858	N	-1.50960702611759	0.01786	0.07825959	-1.54978510116342	0.01978	0.09031793	0.977158857942877	0.29793	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.46	-4.47	0.03278	-0.026000	0.12340	0.447000	0.18483	-0.102000	0.15922	0.000000	0.06391	0.003000	0.18671	0.460000	0.28118	0.1845:0.218:0.4471:0.1503	3.258	0.06434	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1168.98	35	chr1	30876715	.	G	A	1168.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.429;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=-9.080e-01;SOR=0.640	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1068	20	0	1	0
chr1	30950129	30950129	T	C	exonic	PUM1	.	nonsynonymous SNV	PUM1:NM_001020658:exon17:c.A2854G:p.I952V,	.	.	432	1072	17	1	0	19	0.0087841	0.2044	0.386	2330725	not_provided|Inborn_genetic_diseases|PUM1-related_disorder	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.794	P	0.722	P	0.000	D	1.000	D	1.21	L	2.56	T	-0.800	T	0.220	T	0.276	2.951	15.84	5.26	2.212	6.023	15.355	0.115	0.00648079709676	0.0015	0.00159744	0.0018	0.0006	0.0004	0	0.0026	0.0016	0.0011	0.0053	0.0017464	270	154602	rs146226392	0.0022	0.0022	0.0021	0.0023	0.0048	0.0021	0.0021	0.0045	0.0043	0.0006	0.0002	0.0028	0	0.0028	0.0033	0.0021	0.0020	0.0048	0.0015	0.0016	0.0016	0.0015	0.0037	0.0014	0.0013	0.0024	0.0020	0.0004	0	0.0003	0.0014	0.0002	0.0037	0.0034	0.0022	0.0005	0.0037	0.048	0.41096	D	0.335	0.22426	T	0.794	0.44757	P	0.406	0.44683	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	2.56	0.13673	T	-0.12	0.09135	N	0.406	0.45047	-0.8005	0.55115	T	0.220	0.58306	T	10	0.008738935	0.00198	T	0.006481	0.17072	T	0.115	0.32236	.	.	0.253981072376	0.25009	0.43349379434496876	0.43266	0.94141016562	0.72219	0.800033688545	0.81968	T	.	.	.	-0.491766	0.00636	T	-0.478898	0.24562	T	0.0158499845269969	0.00372	T	0.935206	0.76795	D	.	.	.	.	.	.	.	.	-6.86	0.53543	T	.	.	0.163	0.47869	B	.;.;.;.;.	.;.;.;.;.	4.001011	0.58953	24.0	0.99614163822304869	0.74992	0.97769	0.77000	D	AEFBI	0.717234	0.66882	D	0.64073511389563	0.75770	6.365108	0.648192337306219	0.78475	6.884009	0.999764620529313	0.42728	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.26	5.26	0.73479	6.167000	0.71757	5.175000	0.47843	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.355	0.74137	946	0.12043	Pumilio homology domain|Pumilio, RNA binding domain;.;.;Pumilio homology domain|Pumilio, RNA binding domain;Pumilio homology domain|Pumilio, RNA binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2293.98	33	chr1	30950129	.	T	C	2293.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.838;DP=858;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=-2.000e-03;SOR=0.650	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr1	31319132	31319132	G	A	exonic	ZCCHC17	.	nonsynonymous SNV	ZCCHC17:NM_001282571:exon3:c.G5A:p.G2E,	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	.	0.0009	0.0006	0	0	0.0002	0.0012	0.0011	0.0014	0.0009638	149	154602	rs148438693	0.0022	0.0022	0.0022	0.0022	0.0026	0.0021	0.0021	0.0025	0.0025	0.0002	0.0002	0	0	0.0002	0.0002	0.0026	0.0020	0.0021	0.0009	0.0009	0.0010	0.0008	0.0017	0.0008	0.0007	0.0014	0.0013	0.0004	0	0.0001	0	0	9.446e-05	0	0.0017	0.0010	0.0012	.	.	.	0.203	0.27325	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.166	0.17553	.	.	.	.	.	.	.	0.028461963	0.00978	T	.	.	.	.	.	.	.	0.758361148616	0.75616	.	.	.	.	.	.	.	0.364316	0.72992	T	-0.496379	0.00599	T	-0.48758	0.23643	T	.	.	.	0.445855	0.12478	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00220	B	.	.	0.903686	0.12780	9.295	0.72224625456853286	0.09899	0.15493	0.18939	N	AEFBI	0.004370	0.00002	N	.	.	.	.	.	.	0.739272047334028	0.23184	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	4.46	0.53567	0.811000	0.26855	5.070000	0.47169	-0.102000	0.15922	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.9111:0.0:0.0889:0.0	8.188	0.30513	867	0.32089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1918.98	34	chr1	31319132	.	G	A	1918.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.086;DP=848;ExcessHet=0.0000;FS=1.229;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-9.660e-01;SOR=0.577	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1322	20	0	1	0
chr1	31655425	31655425	C	G	exonic	COL16A1	.	nonsynonymous SNV	COL16A1:NM_001856:exon67:c.G4179C:p.K1393N,	.	.	406	1108	8	0	0	8	0.00359712	.	.	2224873	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.44	T	0.99	D	0.909	D	0.032	N	1.000	N	0.12	N	-3.27	D	0.112	D	0.680	D	0.228	1.535	11.09	3.62	1.291	1.752	8.329	0.492	0.0471251451918	0.0002	0.000199681	0.0002	0	0.0002	0	0	0.0002	0.0011	0.0008	0.0001876	29	154602	rs199551630	0.0001	0.0001	0.0001	0.0002	0.0021	0.0001	0.0001	0.0012	0.0009	0.0001	0.0002	0.0009	0	0	0.0021	6.924e-05	0.0003	0.0007	0.0001	0.0001	0.0002	8.059e-05	0.0002	7.573e-05	6.279e-05	5.844e-05	4.24e-05	4.813e-05	0	0	0.0014	0.0002	0	0.0034	0.0001	0	0.0002	0.177	0.22224	T	0.321	0.19073	T	0.982	0.60036	D	0.814	0.58796	P	0.031670	0.25135	N	0.400085	0.705687	0.30061	N	0.43	0.12624	N	-3.27	0.93640	D	-1.09	0.28290	N	0.598	0.61680	0.112	0.84399	D	0.680	0.88926	D	10	0.32209235	0.49563	T	0.047125	0.62778	D	0.492	0.77847	0.566	0.68768	0.818868633688	0.81715	0.6118030765207085	0.61112	0.184506560388	0.20751	0.738814115524	0.72797	T	0.011128	0.09967	T	-0.236329	0.15819	T	-0.206161	0.54062	T	0.0285996729011481	0.01777	T	0.908009	0.67517	D	0.11735247	0.27666	0.10183054	0.24387	0.11735247	0.27666	0.10183054	0.24387	-3.409	0.15177	T	.	.	0.747	0.74935	P	.	.	2.817456	0.37108	20.4	0.97416656578332461	0.33855	0.95707	0.65813	D	AEFDBI	0.659674	0.63051	D	0.133692905615755	0.48040	3.021496	0.166824012603335	0.48039	3.025446	0.999990366949832	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	4.53	3.62	0.40616	0.802000	0.26730	1.797000	0.28849	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.816:0.0:0.184	8.329	0.31334	759	0.50631	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1047.98	33	chr1	31655425	.	C	G	1047.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.980e-01;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.03;ReadPosRankSum=-6.300e-02;SOR=0.664	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1315	20	0	1	0
chr1	31682954	31682954	C	A	exonic	COL16A1	.	nonsynonymous SNV	COL16A1:NM_001856:exon37:c.G2518T:p.A840S,	.	.	415	1098	9	0	0	9	0.00408163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.991	D	0.87	P	0.111	N	0.999	N	0.785	N	-3.2	D	-0.095	T	0.705	D	0.254	0.423	6.299	2.94	1.264	-0.031	8.620	0.283	0.125819810045	0.0019	0.000599042	0.0019	0.0003	0.0006	0	0.0032	0.0029	0.0022	0.0004	0.0018176	281	154602	rs202008728	0.0019	0.0019	0.0019	0.0019	0.0022	0.0018	0.0018	0.0022	0.0021	0.0003	0.0003	0.0002	0	0.0028	0.0017	0.0022	0.0014	0.0003	0.0014	0.0014	0.0016	0.0013	0.0024	0.0013	0.0012	0.0021	0.0020	0.0003	0	0.0003	0	0	0.0031	0	0.0024	0.0009	0	0.428	0.33254	T	0.797	0.13832	T	0.924	0.64070	P	0.722	0.61806	P	0.111420	0.19401	N	0.519373	0.998714	0.21964	N	0.13	0.08652	N	-3.2	0.93414	D	0.22	0.17417	N	0.197	0.22870	-0.0954	0.80204	T	0.705	0.89834	D	10	0.01049161	0.00233	T	0.12582	0.80740	D	0.283	0.60100	.	.	0.730639839714	0.72824	0.07716557848411372	0.07652	0.142384229396	0.16057	0.313031882048	0.12365	T	0.133602	0.64204	T	-0.323217	0.06638	T	-0.241358	0.50665	T	0.024013108393805	0.01147	T	0.683432	0.60710	T	0.036047786	0.04359	0.04188174	0.04860	0.036047786	0.04359	0.04188174	0.04860	-3.697	0.19274	T	.	.	0.077	0.12607	B	.;.;.	.;.;.	1.606362	0.20534	14.79	0.75854930483535854	0.11237	0.22700	0.21834	N	AEFDBI	0.210412	0.33630	N	-0.376492806774187	0.26310	1.43487	-0.397489535323177	0.25071	1.376624	0.99631214135648	0.34662	0.615465	0.37627	0	0.55458	0.17659	0	0.658983	0.55881	0	0.631631	0.49550	0	.	.	4.99	2.94	0.33188	-0.181000	0.09734	1.180000	0.24688	-0.195000	0.09104	0.000000	0.06391	0.664000	0.26031	0.622000	0.31948	0.0:0.7138:0.1943:0.0919	8.620	0.33017	749	0.51929	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1377.98	37	chr1	31682954	.	C	A	1377.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.730e-01;DP=825;ExcessHet=0.0000;FS=0.715;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=-2.370e-01;SOR=0.586	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1340	20	0	1	0
chr1	31692796	31692796	C	T	exonic	COL16A1	.	nonsynonymous SNV	COL16A1:NM_001856:exon14:c.G1084A:p.V362I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.539	P	0.281	B	0.016	N	0.970	N	0.46	N	-3.01	D	-0.271	T	0.570	D	0.142	2.243	13.46	2.52	1.017	0.554	7.588	0.085	0.132693862981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.21801	T	0.511	0.26306	T	0.036	0.37887	B	0.008	0.40336	B	0.015947	0.28108	N	0.343937	0.970284	0.25712	N	1.75	0.45442	L	-3.24	0.93474	D	-0.31	0.14390	N	0.145	0.14622	-0.2713	0.75776	T	0.570	0.84417	D	10	0.09925678	0.18000	T	0.132694	0.81503	D	0.085	0.24743	0.23	0.15705	0.671101576718	0.66832	0.05500039619266151	0.05441	0.126106355353	0.14212	0.372536182404	0.21194	T	0.009	0.11871	T	-0.0242466	0.48246	T	-0.272605	0.47556	T	0.304183334112167	0.25176	T	0.532847	0.22604	T	0.0390064	0.05304	0.04399158	0.05599	0.0390064	0.05304	0.04399158	0.05599	-4.021	0.24117	T	.	.	0.074	0.06433	B	.;.;.	.;.;.	1.683441	0.21456	15.21	0.98679341149501476	0.44596	0.40091	0.26359	N	AEFDBI	0.091959	0.18621	N	-0.41088087360822	0.25087	1.359257	-0.295816324184276	0.28236	1.572739	0.996832028980828	0.35047	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.43	2.52	0.29514	0.449000	0.21459	0.632000	0.20237	0.599000	0.40250	0.006000	0.17386	0.997000	0.33255	0.988000	0.63387	0.0:0.7957:0.0:0.2043	7.588	0.27171	718	0.55760	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1243.98	38	chr1	31692796	.	C	T	1243.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.069e+00;DP=844;ExcessHet=0.0000;FS=1.907;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.81;ReadPosRankSum=-1.280e+00;SOR=0.441	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr1	31698593	31698593	G	A	exonic	COL16A1	.	nonsynonymous SNV	COL16A1:NM_001856:exon5:c.C280T:p.R94W,	.	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.919	D	0.128	N	0.773	N	0.805	L	0.86	T	-0.926	T	0.141	T	0.313	2.929	15.76	2.63	1.308	1.910	4.863	0.100	0.019165365431	0.0005	0.000599042	0.0006	0	8.642e-05	0	0	0.0003	0.0022	0.0028	0.0005304	82	154602	rs200748512	0.0003	0.0003	0.0002	0.0004	0.0025	0.0003	0.0003	0.0022	0.0021	0	0.0002	0	0	1.875e-05	0.0019	0.0002	0.0004	0.0025	0.0003	0.0003	0.0003	0.0003	0.0019	0.0002	0.0002	0.0010	0.0007	0	0	0.0001	0.0003	0	0	0.0034	0.0004	0.0009	0.0019	0.007	0.65419	D	0.018	0.59732	D	0.946	0.90584	P	0.249	0.65474	B	0.128400	0.18733	N	0.540649	0.772889	0.29417	N	2.215	0.62545	M	0.86	0.46777	T	-0.76	0.41428	N	0.341	0.38232	-0.9256	0.44772	T	0.141	0.46016	T	10	0.01284343	0.00274	T	0.019165	0.41459	T	0.100	0.28662	.	.	0.704265654962	0.70169	0.4554869626449398	0.45466	0.162664460996	0.18353	0.330806970596	0.15056	T	0.014736	0.22098	T	-0.444874	0.01210	T	-0.41611	0.31522	T	0.0722769031621973	0.08967	T	0.864814	0.65471	D	0.069721766	0.15299	0.042591535	0.05107	0.069721766	0.15298	0.042591535	0.05107	-6.996	0.54005	T	.	.	0.087	0.15609	B	.;.	.;.	3.940989	0.57670	23.9	0.99533819029055726	0.70025	0.54101	0.29533	D	AEFDGBI	0.497883	0.53222	N	0.077855934744074	0.45430	2.799754	0.0578778142547069	0.42455	2.568	0.999387921987134	0.39415	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.69	2.63	0.30420	2.132000	0.41706	3.726000	0.39602	0.676000	0.76740	0.403000	0.26194	0.777000	0.26748	0.976000	0.56436	0.0866:0.15:0.609:0.1544	4.863	0.12953	717	0.55835	Laminin G domain;Laminin G domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1089.98	41	chr1	31698593	.	G	A	1089.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.605;DP=818;ExcessHet=0.0000;FS=0.731;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.56;ReadPosRankSum=-2.387e+00;SOR=0.779	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1164	20	0	1	0
chr1	31738875	31738875	G	A	exonic	ADGRB2	.	nonsynonymous SNV	ADGRB2:NM_001294335:exon16:c.C2558T:p.P853L	.	.	426	1095	1	0	0	1	0.000456413	.	.	696684	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.39	T	0.026	B	0.01	B	0.241	N	1.000	D	0	N	3.1	T	-0.910	T	0.004	T	0.147	1.456	10.81	2.92	1.168	1.728	6.824	0.036	.	0.0044	0.00938498	0.0066	0.0007	0.0007	0.0360	0.0042	0.0062	0.0067	0.0015	0.0064553	998	154602	rs112847200	0.0050	0.0050	0.0051	0.0049	0.0208	0.0049	0.0049	0.0196	0.0192	0.0007	0.0008	0.0004	0.0208	0.0053	0.0009	0.0051	0.0059	0.0015	0.0044	0.0044	0.0046	0.0042	0.0345	0.0041	0.0040	0.0304	0.0288	0.0008	0	0.0022	0.0009	0.0345	0.0048	0.0068	0.0051	0.0066	0.0019	0.397	0.10588	T	1.0	0.11407	T	0.001	0.07471	B	0.004	0.10090	B	0.241265	0.15706	N	0.536026	0.999755	0.49910	D	.	.	.	3.1	0.08283	T	1.66	0.00805	N	0.262	0.29659	-0.9103	0.46818	T	0.004	0.01261	T	10	0.0023995638	0.00036	T	.	.	.	0.036	0.09122	.	.	0.043077524339	0.03247	0.607898671516568	0.60721	0.725430536437	0.62450	0.573406100273	0.49158	T	0.002964	0.42057	T	-0.594474	0.00158	T	-0.600237	0.12792	T	0.00963008814123031	0.00125	T	0.893711	0.64114	D	0.051171266	0.09357	0.057117015	0.10328	0.052788027	0.09896	0.057117015	0.10327	-1.619	0.02566	T	.	.	0.054	0.05017	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.551796	0.49937	22.9	0.8226394211068645	0.14102	0.82271	0.41524	D	AEFDBI	0.406188	0.47877	N	-0.433918014962857	0.24288	1.310409	-0.259468637880404	0.29446	1.649824	0.998132258555286	0.36473	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	3.86	2.92	0.32998	1.749000	0.37946	8.716000	0.78149	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1303:0.0:0.8697:0.0	6.824	0.23054	582	0.69555	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1694.98	36	chr1	31738875	.	G	A	1694.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.400e-01;DP=875;ExcessHet=0.0000;FS=3.029;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.02;ReadPosRankSum=-6.600e-01;SOR=0.982	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr1	31793844	31793844	C	T	exonic	SPOCD1	.	nonsynonymous SNV	SPOCD1:NM_001281988:exon11:c.G916A:p.G306R	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.179	B	0.033	B	.	.	1.000	N	0.97	L	1.91	T	-1.041	T	0.048	T	0.097	0.540	6.922	1.77	0.274	0.384	7.591	0.006	0.0198114750003	0.0047	0.00139776	0.0042	0.0019	0.0006	0.0028	0.0023	0.0062	0.0044	0.0017	0.0042108	651	154602	rs112565608	0.0044	0.0044	0.0045	0.0043	0.0051	0.0043	0.0043	0.0050	0.0050	0.0023	0.0007	0.0004	0.0012	0.0029	0.0010	0.0051	0.0048	0.0018	0.0034	0.0034	0.0036	0.0033	0.0051	0.0032	0.0031	0.0046	0.0045	0.0022	0	0.0012	0.0009	0.0029	0.0026	0.0068	0.0051	0.0047	0.0023	0.261	0.24661	T	0.816	0.04194	T	0.179	0.28995	B	0.032	0.22329	B	.	.	.	.	1	0.08975	N	1.285	0.32305	L	0.92	0.44461	T	-1.83	0.42957	N	0.092	0.11483	-1.0409	0.17041	T	0.048	0.20395	T	9	0.0038508177	0.00073	T	0.019811	0.42265	T	0.006	0.00375	0.339	0.32979	0.244539031024	0.24083	0.28858030357033626	0.28771	0.184002297361	0.20694	0.231299430132	0.02066	T	0.002623	0.10917	T	-0.619417	0.00111	T	-0.652138	0.08805	T	0.0038977328858979	0.00041	T	0.510949	0.16331	T	0.04365336	0.06841	0.059810083	0.11287	0.04365336	0.06841	0.059810083	0.11286	-3.325	0.15697	T	.	.	0.072	0.24700	B	.;.;.;.	.;.;.;.	1.280063	0.16797	12.77	0.58763031140809452	0.06067	0.04528	0.10159	N	AEFDBI	0.084067	0.17035	N	-0.949101913940032	0.09712	0.4608969	-0.975239729763172	0.10343	0.5203312	0.992690498278425	0.32934	0.634777	0.41761	0	0.563428	0.19063	0	0.658983	0.55881	0	0.645665	0.59343	0	.	.	4.82	1.77	0.23848	0.394000	0.20559	2.098000	0.30587	0.549000	0.26987	0.000000	0.06391	0.007000	0.19602	0.007000	0.07825	0.0:0.5953:0.3146:0.0901	7.591	0.27190	523	0.74147	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2124.98	35	chr1	31793844	.	C	T	2124.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=874;ExcessHet=0.0000;FS=12.849;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.53;ReadPosRankSum=1.08;SOR=0.244	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1459	20	0	1	0
chr1	31814270	31814270	T	C	exonic	SPOCD1	.	nonsynonymous SNV	SPOCD1:NM_001281987:exon2:c.A1064G:p.Q355R	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.84	T	0.0	B	0.0	B	.	.	1.000	N	0	N	1.95	T	-1.005	T	0.012	T	0.022	-1.558	0.015	-3.82	-1.352	-0.858	0.197	0.062	.	0.0054	0.00838658	0.0070	0.0089	0.0015	0.0161	0.0028	0.0075	0.0127	0.0041	0.0054656	845	154602	rs112651926	0.0048	0.0048	0.0049	0.0047	0.0129	0.0047	0.0047	0.0120	0.0116	0.0071	0.0011	0.0004	0.0129	0.0026	0.0011	0.0049	0.0051	0.0034	0.0055	0.0055	0.0056	0.0054	0.0154	0.0052	0.0051	0.0127	0.0117	0.0076	0	0.0024	0.0009	0.0154	0.0026	0.0068	0.0049	0.0066	0.0062	0.85	0.02739	T	0.851	0.03497	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.95	0.22474	T	0.14	0.05405	N	0.011	0.00142	-1.0046	0.28577	T	0.012	0.04416	T	9	0.0023302734	0.00034	T	.	.	.	0.062	0.17934	.	.	0.0297737177859	0.01360	0.034037562920200735	0.03351	0.151952484149	0.17149	0.228732436895	0.01876	T	0.00219	0.01594	T	-0.759612	0.00015	T	-0.852875	0.00924	T	0.000154175097122788	0.00001	T	0.138586	0.01107	T	0.020220365	0.00573	0.031731676	0.01804	0.020220365	0.00573	0.031731676	0.01804	-3.419	0.15573	T	.	.	0.070	0.06159	B	.;.	.;.	-0.409057	0.02180	0.214	0.078803564695453618	0.00052	0.00723	0.03043	N	AEFDGBI	0.038248	0.05385	N	-2.00340974155205	0.00208	0.008915649	-2.0307080453539	0.00264	0.01162791	0.995730478262594	0.34294	0.556989	0.30585	1	0.573888	0.26702	0	0.504386	0.09223	2	0.613276	0.41899	0	.	.	3.41	-3.82	0.04000	-0.842000	0.04462	-0.734000	0.07648	-1.671000	0.00800	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2847:0.2712:0.1882:0.2558	0.197	0.00131	523	0.74147	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	992.98	34	chr1	31814270	.	T	C	992.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.028e+00;DP=917;ExcessHet=0.0000;FS=2.046;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.60;ReadPosRankSum=-5.580e-01;SOR=0.703	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,99,1565	20	0	1	0
chr1	31814289	31814289	T	C	exonic	SPOCD1	.	nonsynonymous SNV	SPOCD1:NM_001281987:exon2:c.A1045G:p.T349A	.	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.0	B	0.0	B	.	.	1.000	N	-0.345	N	2.24	T	-0.976	T	0.010	T	0.032	-1.305	0.036	-3.36	-1.059	-0.849	5.977	0.000	.	0.0054	0.00838658	0.0068	0.0089	0.0015	0.0147	0.0030	0.0073	0.0121	0.0040	0.0054786	847	154602	rs112752591	0.0048	0.0048	0.0049	0.0048	0.0130	0.0047	0.0047	0.0120	0.0117	0.0070	0.0011	0.0004	0.0130	0.0027	0.0011	0.0049	0.0051	0.0033	0.0055	0.0055	0.0056	0.0054	0.0153	0.0052	0.0051	0.0125	0.0115	0.0076	0	0.0024	0.0009	0.0153	0.0026	0.0068	0.0049	0.0066	0.0062	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.805	0.01590	N	2.24	0.18248	T	0.97	0.01467	N	0.024	0.00445	-0.9760	0.35904	T	0.010	0.03811	T	9	0.0028995872	0.00046	T	.	.	.	0.000	0.00003	.	.	0.0401082797425	0.02173	0.04081632709269528	0.04026	0.138332810546	0.15603	0.273158609867	0.06557	T	4.97E-4	0.00182	T	-0.769884	0.00013	T	-0.867631	0.00765	T	9.25803469726816e-05	0.00001	T	0.177782	0.01744	T	0.024993347	0.01388	0.039452143	0.04043	0.024993347	0.01388	0.039452143	0.04043	-2.313	0.04790	T	.	.	0.064	0.02829	B	.;.	.;.	-0.652692	0.01434	0.086	0.14908233024910975	0.00346	0.00169	0.01001	N	AEFDGBIJ	0.024553	0.01540	N	-1.7617225016692	0.00646	0.02785967	-1.77617633518379	0.00838	0.0374577	0.990394474922838	0.32139	0.556989	0.30585	1	0.573888	0.26702	0	0.504386	0.09223	2	0.613276	0.41899	0	.	.	3.95	-3.36	0.04606	-0.843000	0.04457	-0.121000	0.11721	-0.895000	0.02364	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2128:0.4139:0.3732	5.977	0.18615	523	0.74147	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1081.98	34	chr1	31814289	.	T	C	1081.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.547;DP=921;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.03;ReadPosRankSum=0.733;SOR=0.693	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,99,1565	20	0	1	0
chr1	31815123	31815123	G	A	exonic	SPOCD1	.	nonsynonymous SNV	SPOCD1:NM_001281987:exon2:c.C211T:p.R71W	.	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.001	B	0.0	B	.	.	1.000	N	0	N	1.76	T	-1.038	T	0.017	T	0.12	1.018	9.158	-2.35	-0.492	-0.283	0.535	0.015	.	0.0042	0.00658946	0.0053	0.0012	0.0006	0.0135	0.0023	0.0062	0.0078	0.0039	0.0051875	802	154602	rs112754928	0.0047	0.0047	0.0047	0.0047	0.0130	0.0046	0.0046	0.0121	0.0117	0.0009	0.0006	0.0004	0.0130	0.0028	0.0007	0.0050	0.0048	0.0040	0.0037	0.0037	0.0038	0.0037	0.0151	0.0035	0.0033	0.0124	0.0114	0.0013	0	0.0014	0.0009	0.0151	0.0025	0.0034	0.0049	0.0057	0.0070	0.158	0.23905	T	0.13	0.34837	T	0.0	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	1.76	0.26152	T	-0.22	0.10480	N	0.17	0.18103	-1.0376	0.18048	T	0.017	0.07140	T	9	0.003213495	0.00055	T	.	.	.	0.015	0.02232	.	.	0.0297737177859	0.01360	0.08131461214446047	0.08066	0.146708655971	0.16557	0.330306529999	0.14981	T	0.002241	0.01642	T	-0.657313	0.00065	T	-0.70593	0.05508	T	0.00126627134160252	0.00012	T	0.448855	0.12628	T	0.03260822	0.03319	0.028065838	0.01010	0.03260822	0.03319	0.028065838	0.01009	-5.418	0.41121	T	.	.	0.115	0.24901	B	.;.	.;.	0.484273	0.08535	5.300	0.90893652374254885	0.20142	0.01412	0.04773	N	AEFDBI	0.088461	0.17935	N	-1.63868966651225	0.01083	0.04703285	-1.67298024218072	0.01262	0.05687773	0.999785590694875	0.43007	0.475973	0.10046	0	0.573888	0.26702	0	0.670488	0.60580	0	0.613276	0.41899	0	.	.	3.39	-2.35	0.06302	-0.275000	0.08557	0.399000	0.17978	-2.822000	0.00180	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3213:0.1574:0.3333:0.1881	0.535	0.00594	523	0.74147	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1235.98	38	chr1	31815123	.	G	A	1235.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=875;ExcessHet=0.0000;FS=0.823;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.54;ReadPosRankSum=-1.355e+00;SOR=0.551	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	20	0	1	0
chr1	32204797	32204797	A	G	exonic	CCDC28B	.	stoploss	CCDC28B:NM_001301011:exon5:c.A725G:p.X242W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	0.630	7.387	2.19	0.629	0.559	5.752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.461e-06	3.42e-06	1.375e-06	5.575e-06	5.88e-05	1.01e-06	7.4e-07	2.218e-05	1.447e-05	0	0	0	0	0	0	0	0	5.88e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.009	0.00081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.403473	0.02197	T	-0.817338	0.01507	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.565399	0.09340	6.120	0.7386189149156811	0.10482	0.09191	0.14996	N	AEFBCI	.	.	.	-0.535848858431295	0.20929	1.107001	-0.699716685968792	0.16967	0.9000775	0.999818187758987	0.43459	0.106106	0.02776	0	0.077846	0.01938	0	0.068591	0.01938	0	0.109871	0.03346	0	0.0679981	0.16100	3.37	2.19	0.26890	1.094000	0.30563	0.559000	0.19493	0.756000	0.94297	0.005000	0.17040	0.001000	0.17328	0.002000	0.04165	0.7618:0.0:0.0:0.2382	5.752	0.17420	440	0.80101	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	561.98	22	chr1	32204797	.	A	G	561.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.458e+00;DP=692;ExcessHet=0.0000;FS=2.846;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.71;ReadPosRankSum=0.00;SOR=0.330	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1109	20	0	1	0
chr1	32207927	32207927	G	T	exonic	IQCC	.	stopgain	IQCC:NM_001160042:exon5:c.G1486T:p.G496X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	T	.	.	.	.	0.071	N	1.000	D	.	.	.	.	.	.	.	.	.	2.724	15.07	1.92	0.506	0.699	3.802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070528	0.21533	N	0.399900	0.999989	0.54805	D	.	.	.	.	.	.	.	.	.	0.347	0.38848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35415	0.86797	D	0.270935	0.86623	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant	.;Low	5.775795	0.93501	33	0.94360861726445799	0.24717	0.06369	0.12370	N	AEFBCI	0.035885	0.04692	N	-0.00616901183682411	0.41575	2.48926	-0.359075217965895	0.26230	1.447414	0.999992578889059	0.74766	0.536635	0.22144	0	0.577304	0.33150	0	0.489635	0.07774	0	0.664235	0.64389	0	.	.	3.98	1.92	0.24912	0.701000	0.25293	3.473000	0.38595	0.618000	0.50648	0.014000	0.18986	0.997000	0.33255	0.040000	0.14268	0.5468:0.0:0.4532:0.0	3.802	0.08279	446	0.79659	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1242.98	40	chr1	32207927	.	G	T	1242.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.679e+00;DP=837;ExcessHet=0.0000;FS=1.734;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=1.64;SOR=0.941	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr1	32208072	32208072	C	T	exonic	IQCC	.	nonsynonymous SNV	IQCC:NM_001160042:exon5:c.C1631T:p.P544L	.	.	420	1088	13	1	0	15	0.00684619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.99	D	0.799	P	0.308	N	1.000	N	0.895	L	1.4	T	-1.082	T	0.074	T	0.265	3.167	16.59	2.87	1.186	1.776	7.496	0.067	.	0.0047	0.00219649	0.0059	0.0020	0.0033	0	0.0021	0.0058	0.0014	0.0143	0.0042496	657	154602	rs41306593	0.0058	0.0058	0.0056	0.0060	0.0108	0.0057	0.0057	0.0103	0.0100	0.0009	0.0019	0.0007	2.525e-05	0.0029	0.0031	0.0062	0.0056	0.0108	0.0034	0.0034	0.0038	0.0030	0.0077	0.0032	0.0031	0.0057	0.0050	0.0011	0	0.0017	0.0006	0	0.0018	0	0.0057	0.0038	0.0077	0.0	0.91255	D	0.0	0.92824	D	0.99	0.63424	D	0.799	0.58136	P	0.307832	0.14486	N	0.575442	1	0.08975	N	1.04	0.26193	L	1.4	0.36330	T	-2.32	0.51478	N	0.257	0.30914	-1.0821	0.06946	T	0.074	0.29865	T	10	0.0046834946	0.00098	T	.	.	.	0.067	0.19503	.	.	0.117506650769	0.11410	0.01820497705566635	0.01774	0.304605667835	0.32764	0.34721109271	0.17511	T	0.01481	0.12542	T	-0.505136	0.00535	T	-0.488975	0.23499	T	0.0272688329987866	0.01583	T	0.642236	0.25428	T	0.061849557	0.12853	0.08253657	0.18846	0.061849557	0.12852	0.08253657	0.18846	-3.94	0.23008	T	.	.	0.084	0.18828	B	.;.	.;.	3.184410	0.43240	21.7	0.99400352820044935	0.62794	0.32918	0.24702	N	AEFBHCI	0.050381	0.08799	N	-0.108836810699928	0.37008	2.146992	-0.236672425733594	0.30232	1.700504	0.999997826362323	0.74766	0.489673	0.17934	0	0.71359	0.82159	0	0.489635	0.07774	0	0.645665	0.59343	0	.	.	3.79	2.87	0.32523	1.788000	0.38346	0.834000	0.21977	-1.114000	0.01484	0.659000	0.28251	0.061000	0.22037	0.018000	0.11154	0.0:0.8818:0.0:0.1182	7.496	0.26661	446	0.79659	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1145.11	40	chr1	32208072	.	C	T	1145.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.077;DP=778;ExcessHet=0.1072;FS=0.856;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.58;ReadPosRankSum=1.13;SOR=0.572	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	19	0	2	0
chr1	32215517	32215517	A	C	exonic	DCDC2B	.	nonsynonymous SNV	DCDC2B:NM_001099434:exon8:c.A928C:p.T310P,	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.267	B	0.172	B	.	.	1.000	D	2.16	M	0.96	T	-1.022	T	0.111	T	0.29	1.837	12.10	1.04	0.070	2.356	6.968	0.141	0.00571445936377	.	.	6.661e-05	0	0	0	0	3.01e-05	0.0011	0.0003	5.17e-05	8	154602	rs774227457	4.721e-05	4.72e-05	3.404e-05	6.052e-05	0.0007	3.795e-05	3.477e-05	0.0003	0.0003	0	0	0	0	0	0.0007	1.889e-05	0.0001	0.0004	2.629e-05	2.627e-05	1.285e-05	4.037e-05	0.0002	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0.0002	0.032	0.44694	D	0.006	0.70582	D	0.267	0.31683	B	0.172	0.35394	B	.	.	.	.	0.875237	0.28141	N	2.395	0.69210	M	0.96	0.42888	T	-3.77	0.71397	D	0.305	0.34444	-1.0221	0.23031	T	0.111	0.39982	T	9	0.06288296	0.08107	T	0.005714	0.14802	T	0.141	0.37795	0.15	0.05339	0.256283259241	0.25257	0.2069026731863885	0.20606	0.0735496549005	0.08248	0.308373600245	0.11660	T	0.223657	0.58787	T	-0.381559	0.03046	T	-0.485535	0.23860	T	0.101741090136214	0.12548	T	0.39666	0.09990	T	0.3619714	0.57986	0.38556954	0.63471	0.3619714	0.57986	0.38556954	0.63471	-3.13	0.11644	T	.	.	0.115	0.23113	B	.	.	2.485702	0.32060	18.93	0.87386470702032426	0.17190	0.72493	0.35481	D	AEFGBCI	0.341569	0.43801	N	-0.640041773533895	0.17750	0.9160577	-0.645640858356584	0.18326	0.9785191	0.997332619679746	0.35509	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.221012	0.04332	2	.	.	4.81	1.04	0.19220	2.401000	0.44166	2.387000	0.32519	-0.674000	0.04282	0.943000	0.32764	0.358000	0.24506	0.911000	0.44643	0.6416:0.2818:0.0766:0.0	6.968	0.23814	469	0.78175	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1252.98	39	chr1	32215517	.	A	C	1252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.547;DP=829;ExcessHet=0.0000;FS=0.697;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.80;ReadPosRankSum=1.20;SOR=0.649	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	20	0	1	0
chr1	32221884	32221884	G	A	exonic	TMEM234	.	nonsynonymous SNV	TMEM234:NM_001366191:exon2:c.C151T:p.L51F	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	0.995	D	2.575	M	.	.	-0.118	T	0.423	T	0.595	4.470	23.9	3.71	2.484	2.428	12.573	0.657	0.0165622972943	.	0.000199681	1.696e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs559239080	7.529e-06	7.524e-06	6.81e-06	8.256e-06	0.0001	4.04e-06	2.95e-06	6.246e-05	4.757e-05	0	0	0	0	0	0	0	1.656e-05	0.0001	1.316e-05	1.313e-05	1.287e-05	1.348e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	0	0	0.0002	0.005	0.63226	D	0.078	0.48594	T	1.0	0.90584	D	0.999	0.92359	D	0.000018	0.62929	D	0.000000	0.995312	0.42636	D	2.56	0.74772	M	.	.	.	-3.56	0.68880	D	0.704	0.72209	-0.1181	0.79678	T	0.423	0.76750	T	9	0.7922332	0.78761	D	0.016562	0.37875	T	0.657	0.87135	0.731	0.86460	0.0551355673512	0.04727	0.1966761652835912	0.19584	0.760389807308	0.64234	0.546030640602	0.45298	T	0.176536	0.52651	T	-0.0882001	0.38372	T	-0.16087	0.58274	T	0.957961022853851	0.65146	D	0.79822	0.44280	T	0.36297816	0.58062	0.40407085	0.64845	0.36297816	0.58063	0.40407085	0.64845	-9.406	0.70272	D	.	.	0.274	0.63296	B	.;.;.	.;.;.	4.797956	0.77929	26.8	0.99851487198659461	0.93102	0.55702	0.29930	D	AEFDGBHCI	0.235274	0.35791	N	0.670753276790786	0.77716	6.728663	0.595065362338197	0.74585	6.162128	0.999999999979773	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.52208	0.10781	0	0.638787	0.57140	0	.	.	4.63	3.71	0.41733	2.147000	0.41849	6.428000	0.55627	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0847:0.0:0.9153:0.0	12.573	0.55698	455	0.79073	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1179.98	36	chr1	32221884	.	G	A	1179.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.810e-01;DP=873;ExcessHet=0.0000;FS=1.584;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=1.22;SOR=0.874	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1084	20	0	1	0
chr1	32335039	32335039	G	A	exonic	MARCKSL1	.	nonsynonymous SNV	MARCKSL1:NM_023009:exon2:c.C146T:p.P49L,	.	.	394	1111	15	2	0	19	0.00847836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.011	B	0.038	B	0.000	D	0.961	D	0	N	2.05	T	-1.059	T	0.027	T	0.066	2.518	14.38	3.9	2.486	1.995	10.486	0.077	0.00334259515885	0.0002	0.000798722	0.0004	0.0001	0.0004	0	0	9.559e-05	0	0.0031	0.0004269	66	154602	rs144924064	0.0003	0.0003	0.0002	0.0004	0.0031	0.0002	0.0002	0.0024	0.0023	3.184e-05	0.0003	4.355e-05	0	1.935e-05	0.0031	9.164e-05	0.0005	0.0027	0.0002	0.0002	0.0002	0.0002	0.0025	0.0001	0.0001	0.0014	0.0011	0	0	0.0001	0	0	0	0.0034	0.0002	0	0.0025	0.045	0.40832	D	0.262	0.22895	T	0.011	0.15914	B	0.038	0.23361	B	0.000401	0.44960	D	0.195519	0.961128	0.38218	D	0	0.06538	N	2.05	0.20664	T	-2.73	0.58085	D	0.114	0.10198	-1.0591	0.11981	T	0.027	0.11574	T	10	0.008868337	0.00201	T	0.003343	0.07451	T	0.077	0.22490	.	.	0.043077524339	0.03247	0.2177558182414042	0.21691	0.222724169244	0.24812	0.619762659073	0.55696	T	0.261592	0.63309	T	-0.598293	0.00149	T	-0.637421	0.09858	T	0.062390461069718	0.07541	T	0.791921	0.43319	T	0.1484498	0.33890	0.25207034	0.50830	0.1484498	0.33890	0.25207034	0.50829	-5.511	0.41971	T	.	.	0.073	0.04681	B	.	.	3.783204	0.54409	23.5	0.99489330604230009	0.67347	0.75431	0.36932	D	AEFDGBHCI	0.215834	0.34115	N	-0.262477742494856	0.30607	1.708289	-0.0749357453791852	0.36429	2.119969	0.999999992566648	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	3.9	3.9	0.44240	3.447000	0.52699	9.885000	0.82229	0.668000	0.69082	0.988000	0.36536	1.000000	0.68203	0.802000	0.37819	0.0927:0.0:0.9073:0.0	10.486	0.43907	534	0.73357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	639.98	39	chr1	32335039	.	G	A	639.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.199e+00;DP=751;ExcessHet=0.0000;FS=6.909;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=0.636;SOR=0.619	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1026	20	0	1	0
chr1	32368536	32368536	T	C	exonic	BSDC1	.	nonsynonymous SNV	BSDC1:NM_001143890:exon8:c.A886G:p.I296V	.	.	416	1103	3	0	0	3	0.00135808	.	.	3298355	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.35	T	0.032	B	0.015	B	0.000	D	1.000	D	1.12	L	.	.	-0.982	T	0.130	T	0.116	1.795	11.96	5.45	2.205	3.977	9.519	0.089	0.000889465853901	0.0002	.	0.0001	0	8.646e-05	0	0	0.0002	0.0033	0.0002	0.0001164	18	154602	rs145781821	0.0001	0.0001	0.0001	0.0001	0.0017	0.0001	0.0001	0.0009	0.0007	0	0.0002	0	0	1.872e-05	0.0017	0.0001	0.0003	0.0004	0.0001	0.0001	8.995e-05	0.0002	0.0002	8.172e-05	6.728e-05	0.0001	9.898e-05	0	0	0.0001	0	0	0	0	0.0002	0.0010	0.0002	0.447	0.12148	T	0.875	0.05622	T	0.01	0.20242	B	0.004	0.17295	B	0.000000	0.84330	D	0.053895	0.958983	0.38103	D	1.12	0.28775	L	.	.	.	-0.01	0.07155	N	0.245	0.29197	-0.9815	0.34655	T	0.130	0.43927	T	9	0.05038765	0.04763	T	8.89E-4	0.00822	T	0.089	0.25827	.	.	0.243972157842	0.24002	0.04911321010442493	0.04854	0.188642729574	0.21183	0.595946669579	0.52333	T	0.011262	0.10074	T	-0.388139	0.02765	T	-0.494987	0.22868	T	0.0530350081447464	0.06025	T	0.925307	0.72522	D	0.034815524	0.03980	0.052202918	0.08554	0.034815524	0.03979	0.052202918	0.08553	-5.608	0.44215	T	.	.	0.073	0.39220	B	.;.;.;.;.	.;.;.;.;.	2.545415	0.32935	19.19	0.98176532425732999	0.38907	0.93575	0.58592	D	AEFGBI	0.383664	0.46509	N	-0.0761440007079363	0.38442	2.251491	0.120782398449286	0.45614	2.821396	0.997081306935743	0.35260	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.45	5.45	0.79688	3.982000	0.56618	5.001000	0.46597	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0784:0.0:0.9216	9.519	0.38287	477	0.77662	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1030.98	36	chr1	32368536	.	T	C	1030.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.263e+00;DP=822;ExcessHet=0.0000;FS=1.740;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=-8.720e-01;SOR=0.972	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr1	32376546	32376546	T	C	exonic	BSDC1	.	nonsynonymous SNV	BSDC1:NM_001143890:exon7:c.A587G:p.N196S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.015	B	0.023	B	0.026	N	0.713	D	1.32	L	0.92	T	-1.054	T	0.066	T	0.018	0.406	6.204	-1.59	-0.158	1.204	5.888	0.043	0.00774375921037	7.7e-05	.	1.764e-05	0	0	0.0001	0	1.546e-05	0	0	3.84e-05	1	26028	rs370603325	7.826e-06	1.026e-05	9.829e-06	5.769e-06	4.863e-05	4.2e-06	3.07e-06	8.06e-06	3.01e-06	3.073e-05	4.863e-05	0	0	0	0	7.438e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.29554	T	0.357	0.18560	T	0.0	0.17086	B	0.002	0.19966	B	0.026320	0.25941	N	0.470755	0.599287	0.33537	D	0.835	0.21042	L	0.92	0.44461	T	-1.16	0.29727	N	0.022	0.01740	-1.0535	0.13440	T	0.066	0.27295	T	10	0.055755734	0.06145	T	0.007744	0.20536	T	0.043	0.11576	.	.	0.416956310301	0.41315	0.17843495663625186	0.17762	0.171263718839	0.19293	0.257007211447	0.04541	T	0.040087	0.25409	T	-0.329835	0.06124	T	-0.711561	0.05215	T	0.0339869143985243	0.02635	T	0.873413	0.58483	D	0.027951645	0.02061	0.037589673	0.03444	0.027951645	0.02061	0.037589673	0.03443	-0.441	0.00788	T	.	.	0.068	0.02765	B	.;.;.;.;.	.;.;.;.;.	0.947901	0.13241	9.740	0.68442605534737877	0.08660	0.61969	0.31640	D	AEFDGBCI	0.100864	0.20271	N	-0.833199064890218	0.12468	0.6078995	-0.847281034160732	0.13353	0.6922386	0.756500183876622	0.23442	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.87	-1.59	0.08003	1.242000	0.32358	0.183000	0.15654	0.665000	0.62972	1.000000	0.71638	0.028000	0.21151	0.301000	0.24523	0.0:0.3021:0.1318:0.5661	5.888	0.18137	479	0.77495	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1100.98	39	chr1	32376546	.	T	C	1100.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.489;DP=774;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.10;ReadPosRankSum=-1.229e+00;SOR=0.758	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1038	20	0	1	0
chr1	32695311	32695311	G	A	exonic	SYNC	.	nonsynonymous SNV	SYNC:NM_001161708:exon2:c.C787T:p.R263C	.	.	427	1087	8	0	0	8	0.00366636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	1.0	D	0.938	D	.	.	1.000	D	0.55	N	-2.4	D	0.264	D	0.584	D	0.623	4.475	23.9	4.48	2.235	3.229	16.539	0.598	0.087791703081	0.0022	0.00259585	0.0048	0.0014	0	0	0.0012	0.0039	0.0041	0.0081	0.0014489	224	154602	rs41265855	0.0049	0.0047	0.0047	0.0051	0.0076	0.0048	0.0048	0.0071	0.0069	0.0007	0.0016	0.0010	2.798e-05	0.0012	0.0023	0.0054	0.0044	0.0076	0.0027	0.0027	0.0026	0.0027	0.0056	0.0024	0.0024	0.0040	0.0037	0.0008	0	0.0016	0.0009	0	0.0016	0	0.0043	0.0047	0.0056	0.013	0.53900	D	0.008	0.67890	D	1.0	0.90584	D	0.938	0.67350	D	.	.	.	.	0.999866	0.50061	D	0.55	0.14455	N	-2.4	0.88455	D	-3.42	0.67705	D	0.535	0.56403	0.264	0.86980	D	0.584	0.85065	D	9	0.0066640675	0.00151	T	0.087792	0.75006	D	0.598	0.84074	.	.	0.57047621783	0.56714	0.37343116588359515	0.37257	1.21482918538	0.80924	0.331874907017	0.15218	T	0.451966	0.79248	T	-0.198167	0.21068	T	-0.0534247	0.66788	D	0.0218844079295318	0.00896	T	0.892511	0.62902	D	0.27074108	0.50145	0.30820176	0.56839	0.27074108	0.50145	0.30820176	0.56838	-7.039	0.54317	T	.	.	0.140	0.30582	B	.;.	.;.	5.141619	0.86086	28.8	0.99938259047164502	0.99698	0.94326	0.60810	D	ALL	0.649116	0.62369	D	0.377142425733975	0.60184	4.20475	0.395767527177374	0.61302	4.328601	0.999999999999977	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.548927	0.17530	0	.	.	4.48	4.48	0.53973	3.614000	0.53901	7.681000	0.65292	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.539	0.84227	248	0.90287	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1778.98	124	chr1	32695311	.	G	A	1778.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.11;DP=2595;ExcessHet=0.0000;FS=0.673;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.35;ReadPosRankSum=0.575;SOR=0.811	GT:AD:DP:GQ:PL	0/0:123,0:123:99:0,120,1800	20	0	1	0
chr1	32771244	32771244	G	A	exonic	KIAA1522	.	nonsynonymous SNV	KIAA1522:NM_001198972:exon6:c.G1888A:p.A630T	.	.	406	1101	15	0	0	15	0.0067659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.0	B	0.0	B	0.275	N	1.000	N	1.1	L	2.72	T	-0.986	T	0.001	T	0.079	-0.489	1.751	-3.87	-0.879	-0.954	2.183	0.009	.	0.0019	0.0157748	0.0086	0.0076	0.0002	0.0932	0.0012	0.0011	0.0056	0.0038	0.0075355	1165	154602	rs117872916	0.0032	0.0032	0.0031	0.0033	0.0792	0.0031	0.0031	0.0769	0.0759	0.0067	0.0003	0.0024	0.0792	0.0021	0.0030	0.0004	0.0045	0.0048	0.0053	0.0054	0.0047	0.0059	0.0908	0.0050	0.0049	0.0839	0.0811	0.0053	0	0.0012	0.0026	0.0908	0.0012	0	0.0007	0.0058	0.0057	0.422	0.09776	T	0.237	0.24621	T	0.0	0.02946	B	0.0	0.01387	B	0.274896	0.15056	N	0.492187	1	0.19781	N	0.345	0.11182	N	2.71	0.12055	T	-0.2	0.11008	N	0.062	0.05414	-0.9860	0.33590	T	0.001	0.00287	T	10	0.0017859936	0.00023	T	.	.	.	0.009	0.00846	.	.	0.196089822672	0.19227	0.1885308462771647	0.18771	0.113547634044	0.12816	0.317226052284	0.13000	T	0.002445	0.01836	T	-0.766764	0.00014	T	-0.796702	0.01986	T	3.34079086314887e-05	0.00000	T	0.535046	0.17917	T	0.026457611	0.01705	0.039930258	0.04200	0.026457611	0.01704	0.039930258	0.04200	-4.141	0.26577	T	.	.	0.064	0.01960	B	.;.;.	.;.;.	-1.056966	0.00693	0.020	0.55504421104957669	0.05356	0.03974	0.09385	N	AEFDBCI	0.062961	0.12137	N	-1.47517868184309	0.02026	0.08905271	-1.57036657309363	0.01839	0.08379932	0.999992884666669	0.74766	0.651	0.46895	0	0.588066	0.40923	0	0.26897	0.05253	2	0.683762	0.67416	0	.	.	3.64	-3.87	0.03939	-1.747000	0.01926	-1.928000	0.04482	-1.556000	0.00955	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4567:0.1257:0.2903:0.1273	2.183	0.03643	308	0.87611	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1539.11	38	chr1	32771244	.	G	A	1539.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.550e-01;DP=915;ExcessHet=0.1072;FS=0.567;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.05;ReadPosRankSum=0.190;SOR=0.622	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1142	19	0	2	0
chr1	32782431	32782431	C	T	exonic	YARS1	.	nonsynonymous SNV	YARS1:NM_003680:exon9:c.G1015A:p.A339T,	.	.	1	1470	50	1	0	52	0.0173797	.	.	212087	Charcot-Marie-Tooth_disease_dominant_intermediate_C|not_specified|not_provided	MONDO:MONDO:0012012,MedGen:C1842237,OMIM:608323,Orphanet:100045|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.31	T	0.002	B	0.0	B	0.022	N	0.998	D	1.24	L	-0.71	T	-0.857	T	0.208	T	0.063	1.847	12.14	3.74	1.334	0.630	9.054	0.078	.	0.0005	0.00359425	0.0030	0.0004	0.0010	0	0	0.0010	0.0044	0.0170	0.0026843	415	154602	rs141323599	0.0019	0.0019	0.0015	0.0024	0.0163	0.0019	0.0019	0.0156	0.0154	0.0001	0.0007	3.826e-05	0	1.872e-05	0.0095	0.0011	0.0022	0.0163	0.0012	0.0012	0.0011	0.0014	0.0176	0.0011	0.0010	0.0146	0.0135	0.0002	0	0.0007	0	0.0004	0	0.0136	0.0011	0.0014	0.0176	0.341	0.12673	T	0.404	0.22359	T	0.002	0.09854	B	0.0	0.01387	B	0.022356	0.26651	N	0.454930	0.998439	0.44913	D	1.01	0.25309	L	-0.71	0.72889	T	-0.49	0.15578	N	0.135	0.13198	-0.8569	0.51484	T	0.208	0.56744	T	10	0.0041731894	0.00083	T	.	.	.	0.078	0.22779	.	.	0.7307814426	0.72839	0.24667008812608252	0.24581	0.330966287999	0.35175	0.421475112438	0.28040	T	0.151994	0.49219	T	-0.520911	0.00435	T	-0.507404	0.21583	T	0.00735544030599977	0.00084	T	0.782022	0.54691	T	0.110990934	0.26231	0.056756414	0.10197	0.11410718	0.26942	0.06377726	0.12684	-4.694	0.33331	T	0.08938174651911067	0.05458	0.070	0.03301	B	.;.	.;.	2.461577	0.31708	18.82	0.98406145097364284	0.41126	0.47895	0.28085	N	AEFGBCI	0.208756	0.33481	N	-0.443410377705995	0.23964	1.290636	-0.336812921959971	0.26920	1.490246	0.999557891892919	0.40362	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.635259	0.50027	0	.	.	4.65	3.74	0.42108	0.665000	0.24764	1.068000	0.23780	0.599000	0.40250	0.153000	0.23698	0.508000	0.25241	0.994000	0.71098	0.1465:0.7765:0.0:0.0771	9.054	0.35554	293	0.88320	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1241.98	39	chr1	32782431	.	C	T	1241.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.636;DP=799;ExcessHet=0.0000;FS=3.052;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.15;ReadPosRankSum=1.44;SOR=1.145	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1143	20	0	1	0
chr1	32817232	32817232	G	A	exonic	YARS1	.	nonsynonymous SNV	YARS1:NM_003680:exon1:c.C13T:p.P5S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.0	B	0.0	B	0.002	N	1.000	D	-0.975	N	-0.55	T	-1.020	T	0.103	T	0.133	0.923	8.758	4.31	1.350	4.448	5.585	0.101	0.0543229421079	.	.	1.652e-05	0	0	0	0	0	0.0011	6.057e-05	1.29e-05	2	154602	rs759183488	3.42e-06	3.42e-06	1.361e-06	5.501e-06	5.797e-05	1e-06	7.3e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	0	5.797e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	0	0	0.0002	0.748	0.03609	T	0.734	0.05090	T	0.0	0.02946	B	0.0	0.01387	B	0.001862	0.37789	N	0.273259	0.999568	0.20970	N	-0.28	0.03718	N	-0.55	0.71068	T	0.51	0.02898	N	0.111	0.18649	-1.0201	0.23682	T	0.103	0.37944	T	10	0.07576707	0.11752	T	0.054323	0.65813	D	0.101	0.28911	0.295	0.25881	0.755811473752	0.75359	0.4463111984427274	0.44549	0.34465612912	0.36400	0.433739125729	0.29719	T	0.095348	0.39602	T	-0.27392	0.11323	T	-0.42859	0.30094	T	0.227382585921457	0.21826	T	0.776822	0.40920	T	0.10724453	0.25360	0.081825875	0.18628	0.10724453	0.25360	0.081825875	0.18628	-2.034	0.03311	T	.	.	0.075	0.05535	B	.;.	.;.	3.061893	0.41119	21.3	0.88650255792426258	0.18144	0.38677	0.26042	N	AEFGBHCIJ	0.550602	0.56301	D	-0.348402279715296	0.27330	1.498657	-0.101781980174442	0.35319	2.041932	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.23	4.31	0.50718	4.807000	0.62267	7.497000	0.59440	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.860000	0.40782	0.2205:0.0:0.6377:0.1418	5.585	0.16554	281	0.88893	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	894.98	34	chr1	32817232	.	G	A	894.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.057e+00;DP=794;ExcessHet=0.0000;FS=1.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.06;ReadPosRankSum=1.94;SOR=0.502	GT:AD:DP:GQ:PL	0/1:45,44:89:99:909,0,1050	20	0	1	0
chr1	32964396	32964396	G	A	exonic	RNF19B	.	nonsynonymous SNV	RNF19B:NM_001127361:exon1:c.C290T:p.A97V	.	.	472	1041	9	0	0	9	0.00430416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.266	B	0.063	B	.	.	1.000	N	0.345	N	1.53	T	-1.005	T	0.030	T	0.088	-0.383	2.203	-0.228	-0.041	1.639	3.111	0.038	.	.	0.0115815	0.0097	0	0	0.0667	.	0	0.0417	0.0098	0.0007503	116	154602	rs368813522	0.0022	0.0020	0.0021	0.0023	0.0694	0.0021	0.0021	0.0667	0.0656	4.419e-05	0.0002	0.0028	0.0694	0.0021	0.0013	0.0002	0.0039	0.0051	0.0032	0.0033	0.0025	0.0039	0.0762	0.0030	0.0029	0.0699	0.0675	0	0	0.0002	0.0032	0.0762	0.0009	0	0.0004	0.0039	0.0065	0.301	0.15613	T	0.13	0.34716	T	0.174	0.28827	B	0.029	0.21540	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	1.52	0.30669	T	-0.49	0.16393	N	0.075	0.04913	-1.0053	0.28368	T	0.030	0.13023	T	9	0.0017747283	0.00023	T	.	.	.	0.038	0.09825	.	.	0.123314135267	0.11883	0.3987242596299398	0.39787	0.432816247524	0.43450	0.86762201786	0.92227	D	0.123703	0.44825	T	-0.685815	0.00044	T	-0.691958	0.06276	T	0.0108935615067181	0.00156	T	0.336266	0.08539	T	0.030421173	0.02704	0.041678023	0.04792	0.030421173	0.02703	0.041678023	0.04792	-5.973	0.46053	T	.	.	0.102	0.20274	B	.;.;.	.;.;.	1.327328	0.17323	13.09	0.96145430819206823	0.28850	0.10379	0.15902	N	AEFDBCIJ	0.049491	0.08555	N	-1.08968595201596	0.06831	0.3156419	-1.15201343682175	0.06731	0.3250254	0.999999022868977	0.74766	0.495885	0.18260	0	0.56911	0.20461	1	0.608004	0.38603	0	0.621717	0.48901	0	.	.	1.94	-0.228	0.12452	1.168000	0.31468	-1.289000	0.05805	0.223000	0.18093	0.003000	0.16062	0.003000	0.18671	0.112000	0.18829	0.1856:0.2853:0.5291:0.0	3.111	0.05976	542	0.72843	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1555.12	17	chr1	32964396	.	G	A	1555.12	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.637e+00;DP=559;ExcessHet=0.1072;FS=6.975;InbreedingCoeff=-0.0504;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=0.287;SOR=0.326	GT:AD:DP:GQ:PL	0/0:16,0:16:39:0,39,585	19	0	2	0
chr1	32964520	32964520	G	T	exonic	RNF19B	.	nonsynonymous SNV	RNF19B:NM_001127361:exon1:c.C166A:p.P56T	.	.	484	1011	24	3	0	30	0.0146199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.001	B	0.001	B	.	.	1.000	N	0.55	N	1.53	T	-0.992	T	0.035	T	0.149	1.131	9.611	0.671	0.240	0.596	2.988	0.011	0.0905282167101	.	.	0	.	.	.	.	.	.	0	0.0012294	32	26028	rs113914269	0.0114	0.0081	0.0116	0.0111	0.0121	0.0112	0.0111	0.0119	0.0118	0.0011	0.0015	0.0009	0	0.0053	0.0110	0.0121	0.0066	0.0108	0.0069	0.0069	0.0077	0.0061	0.0125	0.0066	0.0064	0.0109	0.0106	0.0021	0.0044	0.0013	0.0015	0	0.0078	0	0.0116	0.0054	0.0125	0.007	0.61437	D	0.548	0.09489	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	1.52	0.30669	T	0.48	0.03140	N	0.099	0.11769	-0.9923	0.32012	T	0.035	0.14987	T	9	0.0041148067	0.00081	T	0.090528	0.75535	D	0.011	0.01250	.	.	.	.	0.5752773355516083	0.57456	0.48616971444	0.47485	0.859681546688	0.91063	D	0.067101	0.33116	T	-0.598122	0.00150	T	-0.624403	0.10843	T	0.0512993875645606	0.05727	T	0.545245	0.19406	T	0.07603554	0.17170	0.084703125	0.19505	0.07603554	0.17170	0.084703125	0.19504	-6.792	0.52603	T	.	.	0.077	0.08948	B	.;.;.	.;.;.	2.457493	0.31654	18.81	0.93418725365160415	0.23185	0.05231	0.11062	N	AEFDBCI	0.029484	0.02791	N	-0.946736287698288	0.09767	0.4636599	-0.926576949785219	0.11468	0.5844069	0.999999979227953	0.74766	0.495885	0.18260	0	0.171818	0.04012	3	0.608004	0.38603	0	0.621717	0.48901	0	.	.	1.63	0.671	0.17097	0.966000	0.28929	8.356000	0.77021	0.272000	0.18543	0.004000	0.16614	1.000000	0.68203	0.649000	0.32665	0.1941:0.2924:0.5135:0.0	2.988	0.05610	542	0.72843	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	608.53	4	chr1	32964520	.	G	T	608.53	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.54;DP=226;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0636;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=1.29;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:5,0:5:15:.:.:0,15,202	19	0	2	0
chr1	33014548	33014548	G	A	exonic	AK2	.	nonsynonymous SNV	AK2:NM_001319142:exon4:c.C346T:p.P116S	Reticular dysgenesis, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	1432280	Inborn_genetic_diseases|Reticular_dysgenesis	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009973,MedGen:C0272167,OMIM:267500,Orphanet:33355	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	4.62	H	-1.83	D	1.029	D	0.879	D	0.806	4.514	24.3	5.12	2.760	7.971	19.450	0.461	0.215164007555	.	.	4.943e-05	0	0	0.0001	0	0	0	0.0003	4.53e-05	7	154602	rs552815574	4.177e-05	4.173e-05	2.861e-05	5.505e-05	0.0005	3.313e-05	3.004e-05	0.0003	0.0003	2.991e-05	2.239e-05	0	2.523e-05	0	0	1.53e-05	3.318e-05	0.0005	1.972e-05	1.97e-05	0	4.037e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.996e-05	0	0	0	0	0	0	0	0	0	0.0006	0.008	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.985	0.99855	H	-1.83	0.84122	D	-7.76	0.95815	D	0.834	0.83781	1.029	0.97706	D	0.879	0.95999	D	10	0.859638	0.85177	D	0.215164	0.87494	D	0.788	0.92988	0.53	0.63707	0.972898452105	0.97260	0.7258217196920808	0.72526	0.7545477971	0.63944	0.502626597881	0.39194	T	0.591511	0.91718	D	-0.212194	0.19070	T	-0.242255	0.50579	T	0.834250903938309	0.48864	D	0.920308	0.71149	D	0.8997428	0.91360	0.8904933	0.94302	0.8997428	0.91361	0.8904933	0.94302	-9.264	0.69381	D	.	.	0.708	0.74367	P	.;.;.;.	.;.;.;.	5.038783	0.83855	28.2	0.99656509351751932	0.77631	0.98131	0.79864	D	AEFDGBHCI	0.896355	0.83732	D	1.11711402137943	0.98438	18.28032	0.994191616084369	0.98512	18.49108	0.999999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.12	5.12	0.69459	8.099000	0.89378	11.799000	0.96598	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.450	0.94856	542	0.72843	.;Adenylate kinase, active site lid domain;Adenylate kinase, active site lid domain;Adenylate kinase, active site lid domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1505.98	35	chr1	33014548	.	G	A	1505.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.710;DP=789;ExcessHet=0.0000;FS=4.798;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.34;ReadPosRankSum=-1.390e-01;SOR=0.913	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1316	20	0	1	0
chr1	33021406	33021406	C	T	exonic	AK2	.	nonsynonymous SNV	AK2:NM_001319142:exon3:c.G260A:p.S87N	Reticular dysgenesis, Autosomal recessive	.	0	1493	28	1	0	30	0.00994695	.	.	498579	not_provided|Reticular_dysgenesis|not_specified|AK2-related_disorder	MedGen:C3661900|MONDO:MONDO:0009973,MedGen:C0272167,OMIM:267500,Orphanet:33355|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.12	T	0.328	B	0.134	B	0.063	N	1.000	D	-0.265	N	-0.99	T	-0.701	T	0.151	T	0.173	1.260	10.11	4.43	1.575	2.910	10.866	0.128	0.0168867353057	0.0041	0.00219649	0.0042	0.0012	0.0006	0.0001	0.0006	0.0055	0.0011	0.0073	0.0043402	671	154602	rs61750965	0.0058	0.0058	0.0058	0.0058	0.0066	0.0057	0.0056	0.0065	0.0065	0.0010	0.0008	0.0062	2.519e-05	0.0004	0.0054	0.0066	0.0052	0.0056	0.0037	0.0037	0.0039	0.0036	0.0065	0.0035	0.0034	0.0060	0.0058	0.0014	0	0.0011	0.0081	0	0.0005	0	0.0065	0.0005	0.0035	0.464	0.09776	T	0.511	0.13832	T	0.0	0.33195	B	0.0	0.33146	B	0.063043	0.22053	N	0.591019	0.903657	0.81001	D	-0.69	0.01958	N	-0.99	0.76300	T	-0.2	0.13226	N	0.491	0.55886	-0.7014	0.60371	T	0.151	0.47962	T	10	0.013360918	0.00284	T	0.016887	0.38356	T	0.128	0.35103	.	.	0.648273525633	0.64535	0.4614190285344923	0.46059	0.175094801446	0.19712	0.410182654858	0.26482	T	0.162272	0.55157	T	-0.41274	0.01907	T	-0.360522	0.37994	T	0.0178057090999815	0.00509	T	0.940106	0.77361	D	0.11311202	0.26716	0.08396349	0.19281	0.12688412	0.29707	0.080425434	0.18192	-2.657	0.07379	T	.	.	0.151	0.39339	B	.;.;.;.;.	.;.;.;.;.	2.348688	0.30108	18.33	0.91303506057907224	0.20564	0.90869	0.52415	D	AEFGBI	0.216083	0.34136	N	-0.229406234226005	0.31931	1.795564	-0.0138875495912115	0.39088	2.312276	0.922964593518304	0.26726	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.35	4.43	0.52967	2.399000	0.44148	1.764000	0.28577	0.599000	0.40250	1.000000	0.71638	0.990000	0.31317	1.000000	0.97212	0.0:0.8531:0.0:0.1469	10.866	0.46063	542	0.72843	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	723.98	33	chr1	33021406	.	C	T	723.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.660e-01;DP=743;ExcessHet=0.0000;FS=1.141;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.92;ReadPosRankSum=-2.570e-01;SOR=0.461	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	20	0	1	0
chr1	33307323	33307323	G	C	exonic	A3GALT2	.	nonsynonymous SNV	A3GALT2:NM_001080438:exon5:c.C466G:p.R156G,	.	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093596269294	0.0011	0.000599042	0.0016	0	0.0003	0	0	0.0016	0.0016	0.0056	0.0007684	20	26028	rs201711967	0.0009	0.0009	0.0007	0.0010	0.0063	0.0008	0.0008	0.0047	0.0041	0.0001	0.0004	0.0256	0	0	0.0063	0.0002	0.0024	0.0034	0.0009	0.0009	0.0008	0.0011	0.0029	0.0008	0.0007	0.0018	0.0014	4.821e-05	0	0.0001	0.0283	0	0	0.0034	0.0002	0.0028	0.0029	.	.	.	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.727	0.72835	.	.	.	.	.	.	.	0.007856667	0.00178	T	0.093596	0.76102	D	.	.	.	.	0.410469974859	0.40663	0.7202289720917042	0.71965	0.61708455629	0.56155	0.807922363281	0.83173	D	0.153025	0.49369	T	-0.157289	0.27179	T	0.000450145	0.70364	D	.	.	.	0.646635	0.25786	T	0.3143262	0.54158	0.28181523	0.54166	0.3143262	0.54158	0.28181523	0.54165	-8.854	0.66752	D	.	.	0.174	0.38172	B	.	.	4.250548	0.64514	24.7	0.68389517952055601	0.08644	0.80960	0.40468	D	AEFDBI	0.240357	0.36215	N	.	.	.	.	.	.	0.999999996042235	0.74766	0.166803	0.03914	0	0.059962	0.00310	0	0.182457	0.04408	0	0.166187	0.04126	0	.	.	3.68	3.68	0.41359	3.022000	0.49342	8.539000	0.77485	0.520000	0.23804	0.998000	0.41325	1.000000	0.68203	0.007000	0.07825	0.0:0.0:0.7741:0.2259	8.741	0.33719	189	0.92630	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1152.98	33	chr1	33307323	.	G	C	1152.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=828;ExcessHet=0.0000;FS=2.516;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=-2.730e-01;SOR=0.965	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,965	20	0	1	0
chr1	33479410	33479410	G	A	exonic	ZSCAN20	.	nonsynonymous SNV	ZSCAN20:NM_001377376:exon2:c.G122A:p.R41H	.	.	428	1079	15	0	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.001	B	0.002	B	0.317	N	1.000	N	0.55	N	4.41	T	-0.907	T	0.006	T	0.035	0.509	6.762	-2.62	-0.509	-2.733	8.872	0.007	0.00477477225566	0.0011	0.000399361	0.0013	0.0003	0.0009	0	0.0002	0.0014	0.0022	0.0030	0.0012419	192	154602	rs199637332	0.0010	0.0010	0.0009	0.0012	0.0144	0.0010	0.0010	0.0119	0.0110	5.974e-05	0.0011	0.0075	0	1.872e-05	0.0144	0.0007	0.0018	0.0035	0.0009	0.0009	0.0009	0.0008	0.0027	0.0007	0.0007	0.0016	0.0013	0.0002	0	0.0015	0.0078	0	0	0.0068	0.0009	0	0.0027	0.334	0.12961	T	0.462	0.19721	T	0.0	0.07471	B	0.0	0.06944	B	0.316649	0.04048	N	1.487730	1	0.08975	N	-0.22	0.03977	N	3.21	0.07125	T	-0.31	0.12099	N	0.042	0.06059	-0.9066	0.47262	T	0.006	0.02093	T	10	0.005155593	0.00112	T	0.004775	0.11910	T	0.007	0.00512	.	.	0.0482279557977	0.04254	0.2575827791341176	0.25672	0.258236123232	0.28380	0.199387297034	0.00439	T	0.015379	0.12914	T	-0.765702	0.00014	T	-0.875075	0.00696	T	0.000708654985634942	0.00006	T	0.29617	0.05481	T	0.017653516	0.00291	0.022586675	0.00280	0.017653516	0.00291	0.022586675	0.00280	-4.855	0.40396	T	.	.	0.122	0.25495	B	.;.	.;.	-0.818609	0.01071	0.047	0.61873385823300897	0.06819	0.00570	0.02584	N	AEFBI	0.022931	0.01210	N	-1.55221207486363	0.01522	0.06644917	-1.60877946286857	0.01603	0.07270228	0.221076865260173	0.18355	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	3.85	-2.62	0.05793	-2.949000	0.00744	-4.314000	0.02222	-0.704000	0.03997	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4737:0.0:0.5263:0.0	8.872	0.34479	392	0.83172	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1594.98	78	chr1	33479410	.	G	A	1594.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.411;DP=890;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.39;ReadPosRankSum=-5.280e-01;SOR=0.654	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1202	20	0	1	0
chr1	33602439	33602439	T	C	exonic	CSMD2	.	nonsynonymous SNV	CSMD2:NM_001281956:exon43:c.A6640G:p.I2214V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.001	B	0.004	B	0.330	N	0.524	N	-0.38	N	2.28	T	-0.981	T	0.014	T	0.104	-0.146	3.285	-0.735	-0.007	1.011	1.641	0.011	0.00318409511483	.	.	8.257e-06	0	0	0	0	1.503e-05	0	0	6.5e-06	1	154602	rs774426338	1.368e-06	1.368e-06	0	2.75e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.773	0.18308	T	0.48	0.14912	T	0.0	0.07471	B	0.002	0.06944	B	0.329691	0.14134	N	0.679220	0.999996	0.08975	N	-0.5	0.02616	N	2.28	0.17271	T	0.53	0.03041	N	0.203	0.24385	-0.9807	0.34840	T	0.014	0.05369	T	10	0.065809876	0.08935	T	0.003184	0.06966	T	0.011	0.01250	0.414	0.45216	0.107399877778	0.10242	0.09497976112378032	0.09429	.	.	0.236385568976	0.02474	T	0.02031	0.16015	T	-0.330793	0.06051	T	-0.697451	0.05966	T	0.0344085821633419	0.02708	T	0.166283	0.13535	T	0.034389142	0.03849	0.026020281	0.00671	0.034389142	0.03849	0.026020281	0.00671	-2.535	0.08634	T	.	.	0.058	0.01252	B	.;.;.;.;.	.;.;.;.;.	0.547989	0.09168	5.949	0.64562782086149995	0.07528	0.23386	0.22059	N	AEFBI	0.126223	0.24307	N	-0.962840348573965	0.09407	0.4450408	-0.821745047197403	0.13969	0.7274939	0.00286292696049736	0.09760	0.675385	0.55134	0	0.59043	0.45803	0	0.693117	0.63056	0	0.564101	0.26826	0	.	.	5.29	-0.735	0.10575	0.509000	0.22414	1.208000	0.24886	-0.123000	0.13640	0.003000	0.16062	0.999000	0.35428	0.954000	0.50415	0.1137:0.2742:0.2243:0.3877	1.641	0.02586	470	0.78111	.;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;.;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3158.98	34	chr1	33602439	.	T	C	3158.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.863e+00;DP=964;ExcessHet=0.0000;FS=0.458;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=-9.700e-01;SOR=0.650	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr1	33635283	33635283	G	C	exonic	CSMD2	.	nonsynonymous SNV	CSMD2:NM_001281956:exon31:c.C5017G:p.P1673A	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	1.0	D	0.000	D	1.000	D	3.455	M	-0.32	T	0.356	D	0.611	D	0.69	5.011	29.5	5.89	2.793	9.869	19.245	0.629	0.0623443218659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000002	0.62929	D	0.059545	1	0.81001	D	3.4	0.91674	M	-0.32	0.68181	T	-6.91	0.94196	D	0.898	0.89800	0.356	0.88432	D	0.611	0.86229	D	10	0.75367707	0.75823	D	0.062344	0.68622	D	0.629	0.85718	0.71	0.84601	0.869463876622	0.86819	0.7385871519057748	0.73803	.	.	0.701277554035	0.67328	T	0.261383	0.72276	T	0.201647	0.74047	D	0.051875	0.73708	D	0.998927772045135	0.95599	D	0.953705	0.83911	D	0.6545787	0.75608	0.6728191	0.80797	0.6545787	0.75609	0.6728191	0.80798	-11.804	0.87250	D	.	.	0.701	0.73198	P	.;.;.;.	.;.;.;.	4.845803	0.79160	27.0	0.99634456705093022	0.76264	0.98629	0.84891	D	AEFBCI	0.900919	0.84701	D	1.06646376622013	0.97461	16.16902	1.0156762686657	0.98908	19.83466	0.999999999999998	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.26897	0.05253	2	0.584449	0.35598	0	.	.	5.89	5.89	0.94758	10.003000	0.99689	9.945000	0.82685	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.245	0.93885	489	0.76795	.;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1989.98	35	chr1	33635283	.	G	C	1989.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.954e+00;DP=825;ExcessHet=0.0000;FS=2.500;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.92;ReadPosRankSum=0.581;SOR=1.018	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr1	33725350	33725350	C	G	exonic	CSMD2	.	nonsynonymous SNV	CSMD2:NM_001281956:exon17:c.G2694C:p.E898D	.	.	425	1087	10	0	0	10	0.00457875	0.0002	0.126	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.998	D	0.987	D	0.000	D	1.000	D	1.17	L	0.18	T	-0.881	T	0.172	T	0.689	3.753	19.05	0.363	0.089	0.028	9.777	0.380	0.0415479197528	0.0061	0.00119808	0.0038	0.0011	0.0009	0	0.0003	0.0063	0.0033	0.0012	0.0040232	622	154602	rs61735686	0.0062	0.0062	0.0063	0.0060	0.0075	0.0061	0.0060	0.0073	0.0073	0.0006	0.0016	0.0038	0	0.0007	0.0017	0.0075	0.0057	0.0012	0.0036	0.0036	0.0041	0.0032	0.0065	0.0034	0.0033	0.0060	0.0058	0.0015	0	0.0013	0.0023	0	0.0007	0	0.0065	0.0038	0.0010	0.025	0.47320	D	0.004	0.74150	D	0.971	0.57185	D	0.952	0.69102	D	0.000000	0.84330	D	0.000000	0.99729	0.43775	D	0.93	0.23535	L	0.18	0.60361	T	-2.59	0.55821	D	0.868	0.86511	-0.8812	0.49665	T	0.172	0.51437	T	10	0.03079778	0.01208	T	0.041548	0.59986	D	0.380	0.69780	0.414	0.45216	0.493021045079	0.48934	0.41920477619135765	0.41836	.	.	0.697892963886	0.66840	T	0.050783	0.28695	T	-0.3	0.08660	T	-0.198579	0.54781	T	0.0300565867139397	0.01997	T	0.844715	0.52235	T	0.3322215	0.55652	0.24624981	0.50131	0.3322215	0.55652	0.24624981	0.50130	-7.786	0.61906	D	.	.	0.432	0.61285	A	.;.;.	.;.;.	3.035975	0.40681	21.2	0.99784639850381784	0.87131	0.90319	0.51400	D	AEFBI	0.521267	0.54577	D	-0.0302188169619208	0.40490	2.405477	-0.0734200195148169	0.36493	2.124482	0.00244880632794547	0.09436	0.562547	0.31514	0	0.573888	0.26702	0	0.608884	0.39905	0	0.564101	0.26826	0	.	.	5.45	0.363	0.15353	-0.004000	0.12813	0.626000	0.20179	-0.182000	0.10109	0.893000	0.31264	0.998000	0.33993	0.966000	0.53164	0.0:0.4925:0.0:0.5075	9.777	0.39796	514	0.74853	.;CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	650.98	34	chr1	33725350	.	C	G	650.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.900e-01;DP=714;ExcessHet=0.0000;FS=2.641;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.47;ReadPosRankSum=-1.830e-01;SOR=0.379	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1209	20	0	1	0
chr1	33864375	33864375	G	C	exonic	HMGB4	.	nonsynonymous SNV	HMGB4:NM_001379301:exon1:c.G184C:p.A62P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.985	D	0.002	N	1.000	D	2.775	M	2.53	T	-0.945	T	0.096	T	0.519	3.881	19.73	3.69	0.894	5.415	7.420	0.280	0.0172210765845	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-05	0.0001	1.365e-05	1.378e-05	1.713e-05	8.95e-06	7.28e-06	1.095e-05	8.83e-06	0	0	0	0	0	0	1.713e-05	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.261	0.22962	T	.	.	.	.	.	.	0.002268	0.36887	N	0.232725	1	0.81001	D	2.925	0.84406	M	2.53	0.14038	T	-0.41	0.14000	N	0.298	0.33796	-0.9447	0.41863	T	0.096	0.36133	T	10	0.31336057	0.48787	T	0.017221	0.38829	T	0.280	0.59740	0.541	0.65304	0.665216195492	0.66240	0.5095415917327302	0.50876	0.0542822596113	0.05997	0.469324588776	0.34587	T	0.075125	0.35104	T	-0.0955755	0.37154	T	-0.375064	0.36297	T	0.896214962005615	0.54790	D	0.717028	0.32946	T	0.66919404	0.76389	0.69928217	0.82285	0.66919404	0.76391	0.69928217	0.82286	-9.75	0.72402	D	.	.	0.907	0.85273	P	.;.	.;.	3.846529	0.55689	23.6	0.99787954193147543	0.87396	0.97583	0.75704	D	AEFBI	0.698134	0.65591	D	0.515974743748389	0.68034	5.161935	0.389533307943009	0.60919	4.285059	0.975632487977862	0.29651	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.58	3.69	0.41483	3.461000	0.52800	7.273000	0.57997	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0875:0.1685:0.744:0.0	7.420	0.26238	334	0.86273	High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.08333	81.64	81	chr1	33864375	.	G	C	81.64	.	AC=2;AF=0.083;AN=24;BaseQRankSum=-3.805e+00;DP=2391;ExcessHet=0.1072;FS=275.736;InbreedingCoeff=-0.1922;MLEAC=3;MLEAF=0.125;MQ=60.00;MQRankSum=0.00;QD=0.32;ReadPosRankSum=0.719;SOR=11.733	GT:AD:DP:GQ:PL	0/1:86,35:121:23:23,0,1801	10	0	2	9
chr1	34197583	34197583	C	A	exonic	C1orf94	.	nonsynonymous SNV	C1orf94:NM_001134734:exon2:c.C679A:p.R227S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.01	B	0.027	B	0.601	N	1.000	N	0.895	L	2.05	T	-0.994	T	0.034	T	0.155	0.012	4.074	1.86	1.080	-0.066	8.205	0.017	0.00588625092613	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.603	0.12187	T	0.325	0.18846	T	0.01	0.15535	B	0.027	0.21085	B	0.600777	0.10960	N	0.796164	1	0.08975	N	0.895	0.22405	L	2.05	0.20664	T	-0.51	0.15986	N	0.1	0.08227	-0.9936	0.31670	T	0.034	0.14726	T	10	0.0664728	0.09122	T	0.005886	0.15310	T	0.017	0.02790	0.201	0.11522	0.221019684889	0.21715	0.07757229221595306	0.07693	0.038680676858	0.04113	.	.	.	0.003886	0.03292	T	-0.27599	0.11097	T	-0.634217	0.10097	T	0.0388216638700326	0.03479	T	0.342266	0.07430	T	0.06863334	0.14967	0.0407893	0.04489	0.06863334	0.14967	0.0407893	0.04489	-2.195	0.04994	T	.	.	0.158	0.35034	B	.;.	.;.	-0.182471	0.03181	0.522	0.9462432071644622	0.25205	0.01792	0.05602	N	AEFDBI	0.065889	0.12874	N	-0.914391860417981	0.10505	0.5023107	-0.919997211765697	0.11623	0.5932474	0.335357170490513	0.19528	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.98	1.86	0.24489	-0.112000	0.10762	-0.158000	0.11351	-0.190000	0.09434	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2993:0.5542:0.1464:0.0	8.205	0.30612	778	0.48011	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1853.98	37	chr1	34197583	.	C	A	1853.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.43;DP=1769;ExcessHet=0.0000;FS=1.359;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.73;ReadPosRankSum=-1.401e+00;SOR=0.572	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1320	20	0	1	0
chr1	34761638	34761638	G	A	exonic	GJB4	.	stopgain	GJB4:NM_153212:exon2:c.G384A:p.W128X,	Erythrokeratodermia variabilis with erythema gyratum repens, Autosomal recessive, Autosomal dominant	YES	0	1518	4	0	0	4	0.00131579	.	.	696696	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	7.125	38	5.73	2.722	9.807	19.513	.	.	0.0018	0.00119808	0.0021	0.0002	0.0003	0	0.0015	0.0031	0.0011	0.0020	0.0020375	315	154602	rs149110828	0.0021	0.0021	0.0020	0.0021	0.0023	0.0020	0.0020	0.0022	0.0022	0.0002	0.0005	0.0006	0	0.0021	0.0007	0.0023	0.0019	0.0022	0.0016	0.0016	0.0016	0.0016	0.0027	0.0014	0.0014	0.0024	0.0022	0.0004	0	0.0010	0.0006	0	0.0014	0	0.0027	0.0014	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.854	0.85027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.77566	D	0.566539	0.96104	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	10.123774	0.99583	45	0.99662780554450969	0.78074	0.99170	0.92261	D	AEFBHCI	0.311340	0.41710	N	1.013966651329	0.96159	14.36666	0.897957624106448	0.95482	13.66478	1.0	0.98316	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.73	5.73	0.89730	8.021000	0.89136	8.642000	0.77898	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:0.0:1.0:0.0	19.513	0.95144	905	0.23532	Connexin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3795.98	37	chr1	34761638	.	G	A	3795.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.253e+00;DP=967;ExcessHet=0.0000;FS=0.464;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.06;ReadPosRankSum=-2.480e-01;SOR=0.658	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1441	20	0	1	0
chr1	34761640	34761640	G	A	exonic	GJB4	.	stopgain	GJB4:NM_153212:exon2:c.G386A:p.W129X,	Erythrokeratodermia variabilis with erythema gyratum repens, Autosomal recessive, Autosomal dominant	YES	0	1511	10	1	0	12	0.00395517	.	.	513242	Erythrokeratodermia_variabilis_et_progressiva_2|not_provided|Erythrokeratodermia_variabilis_et_progressiva_1	MONDO:MONDO:0033012,MedGen:C4479618,OMIM:617524|MedGen:C3661900|MONDO:MONDO:0033010,MedGen:C4551486,OMIM:133200,Orphanet:317	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	6.586	37	4.82	1.440	9.694	14.415	.	.	7.7e-05	.	0.0002	9.619e-05	0.0003	0	0	2.999e-05	0	0.0012	0.0001811	28	154602	rs148182439	0.0002	0.0002	0.0001	0.0002	0.0014	0.0002	0.0002	0.0011	0.0010	0	0.0003	0	0	0	0.0014	0.0001	0.0004	0.0013	9.197e-05	9.193e-05	5.138e-05	0.0001	0.0010	5.527e-05	4.364e-05	0.0004	0.0003	0	0	0	0	0	0	0	0.0001	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.869	0.86618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226755	0.76415	D	0.507389	0.94782	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	10.310761	0.99689	46	0.99600453654681542	0.74160	0.98532	0.83788	D	AEFBHCI	0.341075	0.43768	N	0.889484742481834	0.91235	10.782	0.753270357549602	0.86401	8.877397	0.9999999999969	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.73	4.82	0.61641	9.827000	0.98313	9.960000	0.82789	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0715:0.0:0.9285:0.0	14.415	0.66717	905	0.23532	Connexin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1337.98	37	chr1	34761640	.	G	A	1337.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.656;DP=826;ExcessHet=0.0000;FS=2.369;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=-3.300e-01;SOR=0.956	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1441	20	0	1	0
chr1	34761933	34761933	C	T	exonic	GJB4	.	nonsynonymous SNV	GJB4:NM_153212:exon2:c.C679T:p.R227W,	Erythrokeratodermia variabilis with erythema gyratum repens, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.995	D	0.394	B	0.106	N	1.000	N	0.805	L	-4.58	D	0.335	D	0.833	D	0.187	3.246	16.89	2.15	0.119	0.692	6.397	0.357	0.106835521315	0.0002	0.000399361	0.0001	0	0	0.0001	0	0.0001	0	0.0005	0.0001229	19	154602	rs185327282	7.046e-05	7.046e-05	5.173e-05	8.939e-05	0.0007	5.914e-05	5.523e-05	0.0002	0.0002	8.961e-05	4.472e-05	0	0	0	0.0007	5.755e-05	4.968e-05	0.0003	4.596e-05	4.593e-05	5.139e-05	4.027e-05	0.0002	2.108e-05	1.526e-05	2.846e-05	1.858e-05	0	0	0	0	0.0002	0	0	7.349e-05	0.0005	0	0.005	0.63226	D	0.036	0.52060	D	0.995	0.67487	D	0.394	0.44277	B	0.105692	0.02590	N	1.783920	1	0.08975	N	1.59	0.40313	L	-4.58	0.97812	D	-1.5	0.36586	N	0.181	0.19593	0.335	0.88104	D	0.833	0.94411	D	10	0.07632479	0.11909	T	0.106836	0.78263	D	0.357	0.67782	.	.	0.892984888674	0.89192	0.41148239319536833	0.41064	0.0882617889856	0.09970	0.283795833588	0.08027	T	0.070756	0.34038	T	-0.18104	0.23580	T	-0.175862	0.56905	T	0.197046712040901	0.20252	T	0.50065	0.15660	T	0.055852365	0.10909	0.042397052	0.05041	0.055852365	0.10909	0.042397052	0.05041	-7.066	0.54515	T	.	.	0.086	0.10642	B	.	.	1.740026	0.22144	15.50	0.99742304511739821	0.83629	0.15661	0.19020	N	AEFDBI	0.137349	0.25831	N	-0.466202417287087	0.23195	1.243821	-0.595117532553385	0.19619	1.053459	0.999988771191974	0.51787	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.46	2.15	0.26590	1.623000	0.36618	0.285000	0.16810	-0.230000	0.07744	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.4023:0.5102:0.0:0.0875	6.397	0.20819	907	0.22727	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1747.98	37	chr1	34761933	.	C	T	1747.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=838;ExcessHet=0.0000;FS=2.528;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.61;ReadPosRankSum=-1.211e+00;SOR=0.457	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1441	20	0	1	0
chr1	34785102	34785102	G	A	exonic	GJB3	.	nonsynonymous SNV	GJB3:NM_001005752:exon2:c.G340A:p.A114T	Deafness, autosomal dominant 2B, Autosomal dominant;Deafness, autosomal dominant, with peripheral neuropathy (3);Deafness, autosomal recessive (3);Deafness, digenic, GJB2/GJB3, Autosomal recessive, Digenic dominant;Erythrokeratodermia variabilis et progressiva, Autosomal recessive, Autosomal dominant	.	0	1519	3	0	0	3	0.000986518	.	.	55248	not_provided|not_specified|Erythrokeratodermia_variabilis_et_progressiva_1	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0033010,MedGen:C4551486,OMIM:133200,Orphanet:317	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.28	T	0.002	B	0.001	B	0.405	N	0.985	N	1.78	L	-4.55	D	0.024	D	0.791	D	0.046	0.187	5.009	-3.6	-0.952	0.740	0.371	0.243	0.0567662640167	.	0.000798722	0.0003	9.651e-05	0	0.0001	0	0.0001	0.0011	0.0013	0.0002264	35	154602	rs199689484	0.0002	0.0002	0.0001	0.0002	0.0013	0.0001	0.0001	0.0011	0.0010	2.987e-05	2.236e-05	0.0015	0.0001	0	0.0002	5.935e-05	0.0002	0.0013	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	8.714e-05	0.0008	0.0006	4.811e-05	0	0	0.0006	0	0	0.0034	0.0001	0	0.0017	0.632	0.05121	T	0.429	0.13752	T	0.002	0.09854	B	0.001	0.04355	B	0.404709	0.13077	N	0.679982	0.999975	0.18612	N	0.445	0.12748	N	-4.55	0.97753	D	-0.07	0.08033	N	0.039	0.01274	0.024	0.82741	D	0.791	0.92928	D	10	0.012672514	0.00271	T	0.056766	0.66723	D	0.243	0.54921	.	.	0.701431529907	0.69884	0.6127885868310406	0.61210	0.0631666422349	0.07030	0.314917594194	0.12651	T	0.435373	0.78213	T	-0.391963	0.02613	T	-0.376338	0.36149	T	0.0130941924501172	0.00230	T	0.0233977	0.00138	T	0.051568218	0.09489	0.06283622	0.12354	0.05738788	0.11414	0.06545711	0.13270	-4.301	0.28191	T	0.08538512769925853	0.04811	0.067	0.02609	B	.;.	.;.	0.186409	0.05734	2.176	0.91083555304345765	0.20336	0.18104	0.20121	N	AEFDGBHCI	0.187158	0.31445	N	-1.41768326810932	0.02483	0.1097264	-1.42219957742226	0.03031	0.1406112	0.999999987815902	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.49644	0.08281	0	0.542086	0.14980	0	.	.	5.84	-3.6	0.04277	0.674000	0.24897	-3.656000	0.02627	-1.588000	0.00909	0.307000	0.25387	0.000000	0.08366	0.110000	0.18741	0.293:0.2139:0.2699:0.2232	0.371	0.00353	904	0.23766	Connexin, N-terminal;Connexin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	2309.98	33	chr1	34785102	.	G	A	2309.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=943;ExcessHet=0.0000;FS=3.143;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.95;ReadPosRankSum=0.080;SOR=0.946	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1387	20	0	1	0
chr1	34794607	34794607	C	T	exonic	GJA4	.	nonsynonymous SNV	GJA4:NM_002060:exon2:c.C394T:p.R132C,	.	.	171	1306	40	5	0	50	0.0187829	.	.	707363	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.02	D	0.946	P	0.333	B	0.485	N	1.000	D	0.895	L	-4.47	D	0.695	D	0.764	D	0.301	2.204	13.33	4.13	2.360	1.160	11.059	0.405	.	0.0068	0.00419329	0.0095	0.0017	0.0062	0	0.0081	0.0116	0.0146	0.0134	0.0089003	1376	154602	rs61777220	0.0098	0.0098	0.0096	0.0100	0.0200	0.0097	0.0096	0.0170	0.0159	0.0013	0.0053	0.0206	2.519e-05	0.0098	0.0200	0.0099	0.0103	0.0140	0.0079	0.0079	0.0080	0.0077	0.0143	0.0075	0.0073	0.0116	0.0106	0.0018	0	0.0076	0.0248	0	0.0082	0.0238	0.0108	0.0114	0.0143	0.046	0.40832	D	0.035	0.56640	D	0.946	0.53363	P	0.333	0.42166	B	0.484983	0.12122	N	0.687923	0.769098	0.34129	D	1.39	0.34934	L	-4.47	0.97713	D	-2.02	0.46503	N	0.226	0.25377	0.695	0.93112	D	0.764	0.91963	D	10	0.007856071	0.00178	T	.	.	.	0.405	0.71791	.	.	0.970688122384	0.97037	0.5812088919128856	0.58049	0.819732499615	0.67100	0.345710337162	0.17288	T	0.728999	0.92399	D	-0.201871	0.20535	T	-0.0510736	0.66950	D	0.0201127774959818	0.00712	T	0.857914	0.57225	D	0.15551671	0.35143	0.09299633	0.21943	0.15551671	0.35143	0.09299633	0.21943	-8.933	0.67264	D	.	.	0.124	0.26607	B	.;.	.;.	3.433884	0.47740	22.5	0.99798233082737386	0.88283	0.71097	0.34867	D	AEFDBCI	0.438362	0.49778	N	0.0598603509916537	0.44597	2.730857	0.0723636387507308	0.43165	2.62392	0.907594485952564	0.26263	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.620976	0.48614	0	.	.	5.11	4.13	0.47661	3.749000	0.54867	2.695000	0.34117	0.599000	0.40250	1.000000	0.71638	0.992000	0.31684	0.659000	0.32940	0.377:0.623:0.0:0.0	11.059	0.47153	918	0.19598	Connexin, N-terminal;Connexin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3013.11	105	chr1	34794607	.	C	T	3013.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.03;DP=1474;ExcessHet=0.1072;FS=1.474;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=0.734;SOR=0.604	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	19	0	2	0
chr1	34868752	34868752	G	A	exonic	DLGAP3	.	nonsynonymous SNV	DLGAP3:NM_001080418:exon9:c.C2338T:p.R780C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.959	D	0.000	D	1.000	D	1.04	L	1.68	T	-1.009	T	0.116	T	0.62	4.325	22.7	5.09	2.633	7.583	18.696	0.257	0.0138048100854	.	.	8.925e-06	0	0	0	0	1.623e-05	0	0	1.29e-05	2	154602	rs771794556	8.936e-06	1.231e-05	9.58e-06	8.287e-06	1.169e-05	4.99e-06	3.84e-06	6.52e-06	5.03e-06	0	0	0	0	0	0	1.169e-05	0	0	6.57e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.022	0.48642	D	0.059	0.45961	T	1.0	0.90584	D	0.959	0.70163	D	0.000110	0.50451	D	0.177929	1	0.81001	D	0.315	0.10303	N	1.68	0.27184	T	-2.98	0.62008	D	0.713	0.71587	-1.0093	0.27136	T	0.116	0.41075	T	10	0.5606619	0.64769	D	0.013805	0.33474	T	0.257	0.56827	0.436	0.48828	0.216943180021	0.21308	0.6757899540468842	0.67516	1.83058605032	0.92042	0.79072791338	0.80554	T	0.216	0.57842	T	-0.0270668	0.47842	T	-0.26117	0.48707	T	0.686613607220284	0.40091	D	0.935106	0.75644	D	0.18476574	0.39807	0.12597477	0.30345	0.18476574	0.39807	0.12597477	0.30344	-8.884	0.66946	D	.	.	0.233	0.49216	B	.;.	.;.	5.650607	0.92806	33	0.99920831399151633	0.98721	0.98850	0.87681	D	AEFDBI	0.956231	0.97462	D	0.674270305457179	0.77946	6.773831	0.684539695072562	0.81203	7.472527	0.999999994102083	0.74766	0.718356	0.82227	0	0.610034	0.51514	0	0.570548	0.19454	0	0.542086	0.14980	0	.	.	5.09	5.09	0.68647	7.695000	0.83490	9.801000	0.81695	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:1.0:0.0	18.696	0.91562	902	0.24074	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1274.98	35	chr1	34868752	.	G	A	1274.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=778;ExcessHet=0.0000;FS=0.852;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.74;ReadPosRankSum=-9.600e-02;SOR=0.527	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1046	20	0	1	0
chr1	35187226	35187226	C	A	exonic	SFPQ	.	nonsynonymous SNV	SFPQ:NM_005066:exon8:c.G1841T:p.G614V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.994	D	0.723	P	0.001	N	1.000	D	0.895	L	1.87	T	-1.095	T	0.076	T	0.639	2.924	15.74	4.09	1.544	1.914	15.482	0.188	0.0113750931162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.63918	D	0.994	0.66517	D	0.723	0.54990	P	0.001167	0.39978	N	0.278938	1	0.81001	D	1.04	0.26193	L	1.87	0.24085	T	-1.19	0.30346	N	0.651	0.66187	-1.0951	0.04738	T	0.076	0.30397	T	10	0.6904533	0.71823	D	0.011375	0.28926	T	0.188	0.46444	0.36	0.36385	0.77976479729	0.77773	0.5176702477874561	0.51690	1.98220839654	0.93655	0.687163591385	0.65298	T	0.060462	0.31393	T	-0.0498942	0.44464	T	-0.309446	0.43718	T	0.530140340328217	0.33739	D	0.890711	0.62461	D	0.30386326	0.53249	0.2817758	0.54162	0.30386326	0.53249	0.2817758	0.54161	-7.16	0.55193	T	.	.	0.178	0.38853	B	.	.	3.641061	0.51624	23.1	0.99566702922185157	0.72136	0.96694	0.70442	D	AEFBHCI	0.372062	0.45784	N	0.135481567704648	0.48125	3.028823	0.178075620799577	0.48647	3.078	0.999998622859913	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	6.03	4.09	0.47038	1.164000	0.31420	4.679000	0.44312	-0.217000	0.08171	0.937000	0.32526	1.000000	0.68203	0.865000	0.41091	0.0:0.7397:0.2603:0.0	15.482	0.75271	847	0.35998	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1141.98	35	chr1	35187226	.	C	A	1141.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.054e+00;DP=832;ExcessHet=0.0000;FS=1.457;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.28;ReadPosRankSum=-1.610e-01;SOR=0.867	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1292	20	0	1	0
chr1	35192805	35192819	GGCTGCTGCGGCGGT	-	exonic	SFPQ	.	nonframeshift deletion	SFPQ:NM_005066:exon1:c.231_245del:p.Q80_P84del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0	0	0.0016	0	0.0004	0	0.0057	3.84e-05	1	26028	rs757660991	0.0003	0.0003	0.0002	0.0004	0.0031	0.0003	0.0002	0.0028	0.0027	0.0001	0.0001	0	0.0013	2.715e-05	0.0007	6.114e-05	0.0004	0.0031	0.0002	0.0002	0.0001	0.0002	0.0035	0.0001	0.0001	0.0023	0.0018	0.0001	0	6.55e-05	0	0.0006	0	0	1.473e-05	0	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	760.94	35	chr1	35192804	.	CGGCTGCTGCGGCGGT	C	760.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.470e-01;DP=782;ExcessHet=0.0000;FS=2.587;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.12;ReadPosRankSum=1.66;SOR=1.127	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,940	20	0	1	0
chr1	35474896	35474896	T	G	exonic	KIAA0319L	.	nonsynonymous SNV	KIAA0319L:NM_024874:exon5:c.A924C:p.E308D,	.	.	434	1076	12	0	0	12	0.00554529	.	.	2812629	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.13	T	0.457	P	0.174	B	0.000	D	1.000	D	1.04	L	3.07	T	-1.117	T	0.070	T	0.082	4.363	23.0	-3.22	-0.137	-0.279	6.828	0.047	0.0103198522308	0.0012	0.00119808	0.0012	0	0.0003	0	0.0003	0.0008	0.0055	0.0054	0.001216	188	154602	rs151103704	0.0013	0.0013	0.0012	0.0015	0.0055	0.0013	0.0012	0.0051	0.0049	0.0002	0.0002	7.708e-05	0	0.0002	0.0017	0.0012	0.0010	0.0055	0.0009	0.0009	0.0008	0.0010	0.0043	0.0008	0.0008	0.0029	0.0024	0.0003	0	0	0	0.0002	0.0003	0	0.0015	0	0.0043	0.046	0.40573	D	0.052	0.47581	T	0.321	0.33029	B	0.101	0.30765	B	0.000085	0.51296	D	0.168326	0.997144	0.43662	D	2.485	0.72352	M	3.07	0.14907	T	-1.69	0.41618	N	0.088	0.06587	-1.1169	0.02538	T	0.070	0.28577	T	10	0.0061453283	0.00138	T	0.01032	0.26719	T	0.047	0.12962	0.369	0.37850	0.233785782151	0.22967	0.3221979876497507	0.32132	0.296860669907	0.32077	0.377983748913	0.21970	T	0.047388	0.27709	T	-0.618871	0.00112	T	-0.660099	0.08259	T	0.0408378993508939	0.03843	T	0.874613	0.66542	D	0.15743412	0.35475	0.105926834	0.25473	0.15743412	0.35475	0.105926834	0.25472	-6.602	0.51068	T	.	.	0.123	0.39898	B	.;.;.	.;.;.	2.109641	0.26843	17.26	0.99708219864570524	0.81143	0.42964	0.26994	N	AEFBI	0.104455	0.20899	N	-0.503944999118098	0.21951	1.168752	-0.465938729170982	0.23098	1.257919	0.855105320386184	0.25117	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.8	-3.22	0.04808	0.183000	0.16729	-0.782000	0.07450	0.661000	0.55757	0.984000	0.35821	0.014000	0.20376	0.997000	0.79791	0.1381:0.5059:0.0:0.356	6.828	0.23080	346	0.85643	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	608.98	33	chr1	35474896	.	T	G	608.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.236;DP=770;ExcessHet=0.0000;FS=1.056;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.32;ReadPosRankSum=-3.840e-01;SOR=0.963	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1218	20	0	1	0
chr1	35554484	35554484	T	G	exonic	KIAA0319L	.	nonsynonymous SNV	KIAA0319L:NM_024874:exon2:c.A8C:p.K3T,	.	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.961	D	0.466	P	0.002	N	1.000	D	0.895	L	2.94	T	-0.760	T	0.138	T	0.353	3.861	19.61	5.68	2.164	1.596	13.675	0.064	0.0391095409404	0.0005	0.000199681	0.0005	0	0.0014	0	0	0.0006	0.0022	6.207e-05	0.0004916	76	154602	rs142411848	0.0005	0.0005	0.0005	0.0005	0.0172	0.0005	0.0005	0.0145	0.0135	0.0003	0.0013	0.0018	0	0	0.0172	0.0004	0.0012	0.0002	0.0006	0.0006	0.0005	0.0008	0.0031	0.0005	0.0005	0.0024	0.0022	0.0001	0	0.0031	0.0012	0	0	0.0170	0.0005	0.0009	0.0002	0.004	0.68238	D	0.019	0.92824	D	0.18	0.29046	B	0.06	0.26717	B	0.002470	0.36499	N	0.189317	0.901261	0.36177	D	0.895	0.22405	L	2.94	0.56114	T	-0.99	0.42001	N	0.319	0.35938	-0.7602	0.57394	T	0.138	0.45489	T	10	0.011908382	0.00258	T	0.03911	0.58617	D	0.064	0.18567	.	.	0.564020812232	0.56065	0.49099339918513485	0.49020	0.580763975337	0.53905	0.47840872407	0.35837	T	0.034302	0.23266	T	-0.351786	0.04616	T	-0.313471	0.43286	T	0.0520630710928339	0.05858	T	0.751425	0.37327	T	0.13507462	0.31361	0.10428756	0.25043	0.13507462	0.31361	0.10428756	0.25042	-3.618	0.18118	T	.	.	0.113	0.43666	B	.;.;.;.;.	.;.;.;.;.	2.900416	0.38441	20.7	0.99788454100363855	0.87484	0.86763	0.46114	D	ALL	0.266887	0.38371	N	0.152657693428742	0.48937	3.099971	0.259729722984921	0.53205	3.490595	0.99999999999982	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.685571	0.62057	0	0.525792	0.08840	0	.	.	5.68	5.68	0.88021	1.644000	0.36844	2.385000	0.32508	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.0:1.0	13.675	0.61926	370	0.84343	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	797.98	42	chr1	35554484	.	T	G	797.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.074e+00;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=0.986;SOR=0.595	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1117	20	0	1	0
chr1	35565626	35565626	G	A	exonic	NCDN	.	nonsynonymous SNV	NCDN:NM_001014841:exon7:c.G2102A:p.R701H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.006	B	0.001	B	0.001	D	0.795	D	0	N	.	.	-1.023	T	0.078	T	0.175	2.746	15.14	3.25	0.575	4.678	10.804	0.111	0.00555395431203	8.1e-05	.	4.971e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs368983567	1.491e-05	3.625e-05	1.406e-05	1.577e-05	5.315e-05	9.58e-06	8.13e-06	8.81e-06	6.54e-06	3.057e-05	2.587e-05	3.938e-05	5.315e-05	0	0	1.373e-05	0	1.228e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.30097	T	0.049	0.48336	D	0.006	0.13644	B	0.001	0.04355	B	0.000926	0.41028	D	0.240335	0.795396	0.34441	D	0.345	0.11182	N	.	.	.	-0.5	0.15782	N	0.05	0.02559	-1.0231	0.22704	T	0.078	0.31193	T	9	0.08860859	0.15272	T	0.005554	0.14319	T	0.111	0.31313	.	.	0.102598925029	0.09809	0.4504227748893339	0.44960	1.50912711962	0.87195	0.540147662163	0.44466	T	0.113926	0.43135	T	-0.15995	0.26767	T	-0.467533	0.25781	T	0.115820256508998	0.14016	T	0.842916	0.51943	T	0.0521123	0.09672	0.045380708	0.06095	0.0521123	0.09671	0.045380708	0.06094	-3.809	0.20939	T	.	.	0.090	0.12750	B	.;.;.	.;.;.	4.563562	0.71934	25.7	0.99696342079828182	0.80316	0.89582	0.50139	D	AEFDBI	0.325212	0.42686	N	-0.306970834388735	0.28883	1.596868	-0.114011111019909	0.34824	2.007603	0.99976367393363	0.42728	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.528226	0.09195	0	.	.	5.13	3.25	0.36363	4.784000	0.62103	7.613000	0.61989	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1552:0.0:0.8448:0.0	10.804	0.45709	354	0.85282	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	687.98	30	chr1	35565626	.	G	A	687.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.229;DP=703;ExcessHet=0.0000;FS=1.209;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.96;ReadPosRankSum=0.692;SOR=1.109	GT:AD:DP:GQ:PL	0/0:35,0:35:90:0,90,1350	20	0	1	0
chr1	35738462	35738462	C	T	exonic	CLSPN	.	nonsynonymous SNV	CLSPN:NM_001190481:exon20:c.G3359A:p.R1120Q	.	.	434	1087	0	1	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.000	N	0.994	D	1.645	L	1.84	T	-0.922	T	0.139	T	0.408	5.075	31	5.26	1.629	5.264	15.427	0.106	0.0340706948945	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1420207716	4.105e-06	4.104e-06	5.446e-06	2.751e-06	5.397e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.397e-06	0	0	1.315e-05	1.313e-05	1.285e-05	1.346e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.033	0.44694	D	0.014	0.63109	D	1.0	0.90584	D	0.998	0.88582	D	0.000003	0.62929	N	0.058883	0.994289	0.42226	D	2.5	0.72771	M	1.8	0.25344	T	-1.63	0.41618	N	0.43	0.52297	-0.9218	0.45307	T	0.139	0.45640	T	10	0.27692223	0.45257	T	0.034071	0.55422	D	0.106	0.30130	0.206	0.12216	0.403974779092	0.40011	0.2339326386544179	0.23308	0.281092337101	0.30582	0.322221308947	0.13757	T	0.029038	0.20895	T	-0.203187	0.20346	T	-0.360513	0.37994	T	0.94359940290451	0.61891	D	0.869813	0.57909	D	0.22296865	0.44908	0.17331141	0.39649	0.22296865	0.44908	0.17331141	0.39648	-3.47	0.17267	T	.	.	0.138	0.31832	B	.;.;.;.	.;.;.;.	4.208610	0.63560	24.6	0.99958231756441518	0.99986	0.98705	0.85807	D	AEFBI	0.576028	0.57818	D	0.640715973141441	0.75770	6.364879	0.646456115280425	0.78345	6.857992	0.998971020234834	0.38110	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.16	5.26	0.73479	5.342000	0.65740	3.325000	0.37578	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:0.9341:0.0:0.0659	15.427	0.74780	209	0.91859	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1343.98	37	chr1	35738462	.	C	T	1343.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.260e-01;DP=782;ExcessHet=0.0000;FS=0.775;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.71;ReadPosRankSum=1.87;SOR=0.807	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1273	20	0	1	0
chr1	35743140	35743140	C	T	splicing	CLSPN	NM_001330490:exon18:c.3143+1G>A;NM_001190481:exon17:c.2951+1G>A;NM_022111:exon18:c.3143+1G>A	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.938	20.1	5.44	2.715	4.013	16.356	.	.	0.0014	0.00119808	0.0003	0.0039	8.7e-05	0	0	1.518e-05	0	0	0.0003105	48	154602	rs72902906	0.0001	0.0001	0.0002	8.952e-05	0.0045	0.0001	0.0001	0.0039	0.0037	0.0045	0.0002	0	0	0	0	9.011e-07	0.0004	0	0.0011	0.0011	0.0012	0.0010	0.0039	0.0009	0.0009	0.0034	0.0032	0.0039	0	6.539e-05	0	0	0	0	1.47e-05	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113373	0.65700	D	0.389932	0.91778	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	6.526552	0.95352	34	0.99353860084475298	0.60697	0.97659	0.76220	D	AEFBI	.	.	.	1.07819764397931	0.97709	16.614	0.92309455668669	0.96501	14.77557	0.996100935815946	0.34527	0.156188	0.03335	0	0.156173	0.03658	0	0.137589	0.03823	0	0.087121	0.02386	0	0.979263	0.83811	5.44	5.44	0.79348	4.167000	0.57999	7.590000	0.61220	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.873000	0.41610	0.0:1.0:0.0:0.0	16.356	0.83070	208	0.91895	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1229.98	33	chr1	35743140	.	C	T	1229.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.370e-01;DP=804;ExcessHet=0.0000;FS=2.637;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=1.20;SOR=0.435	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1312	20	0	1	0
chr1	35746954	35746954	G	T	exonic	CLSPN	.	nonsynonymous SNV	CLSPN:NM_001190481:exon14:c.C2474A:p.A825D	.	.	422	1095	5	0	0	5	0.0022779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.41	B	0.07	B	0.013	N	0.730	D	1.01	L	1.73	T	-1.025	T	0.051	T	0.071	3.192	16.69	5.17	1.574	4.322	16.838	0.040	0.00764341559897	.	0.000599042	7.413e-05	0	0	0	0	0	0	0.0005	7.76e-05	12	154602	rs534927658	3.626e-05	3.625e-05	2.45e-05	4.813e-05	0.0009	2.828e-05	2.565e-05	0.0003	0.0002	5.974e-05	0	0	0	0	0.0009	6.295e-06	9.935e-05	0.0004	4.597e-05	4.593e-05	5.14e-05	4.028e-05	0.0010	2.108e-05	1.526e-05	0.0004	0.0003	4.812e-05	0	0	0	0	0	0	0	0	0.0010	0.061	0.61437	T	0.222	0.34477	T	0.256	0.35064	B	0.058	0.27859	B	0.012656	0.29101	N	0.406109	0.730193	0.33710	D	0.805	0.20218	L	1.68	0.27184	T	-1.78	0.43149	N	0.167	0.19995	-1.0254	0.21952	T	0.051	0.21728	T	10	0.020097435	0.00458	T	0.007643	0.20272	T	0.040	0.10527	0.22	0.14224	0.102598925029	0.09809	0.20164741232760422	0.20081	0.138008884758	0.15561	0.38619530201	0.23132	T	0.018607	0.14973	T	-0.505654	0.00531	T	-0.60332	0.12534	T	0.0444744267734707	0.04506	T	0.671533	0.28809	T	0.22756429	0.45460	0.3683398	0.62126	0.22756429	0.45460	0.3683398	0.62125	-3.939	0.22888	T	.	.	0.098	0.21428	B	.;.;.;.	.;.;.;.	3.318068	0.45624	22.2	0.99252396540917254	0.56924	0.96824	0.71137	D	AEFDBI	0.437166	0.49708	N	0.0574567241906632	0.44486	2.721787	0.216023813836379	0.50737	3.262537	0.998677923555027	0.37434	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	6.09	5.17	0.70848	4.866000	0.62702	6.917000	0.56917	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.8703:0.1297	16.838	0.85827	207	0.91931	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2814.98	34	chr1	35746954	.	G	T	2814.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.378e+00;DP=927;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=1.21;SOR=0.657	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1393	20	0	1	0
chr1	35841671	35841671	A	T	exonic	AGO4	.	nonsynonymous SNV	AGO4:NM_017629:exon15:c.A2096T:p.D699V,	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.923	P	0.616	P	0.000	D	1.000	D	2.195	M	1.48	T	-0.920	T	0.134	T	0.705	4.798	27.1	5.67	2.164	9.215	15.919	0.298	0.0368278352249	7.7e-05	.	4.121e-05	0	0.0002	0	0	4.497e-05	0	0	3.88e-05	6	154602	rs145609935	3.762e-05	3.762e-05	4.492e-05	3.025e-05	0.0002	2.96e-05	2.656e-05	0.0001	7.816e-05	0	0.0002	0	0	0	0.0002	3.777e-05	4.968e-05	0	6.575e-05	6.567e-05	7.712e-05	5.384e-05	0.0003	3.519e-05	2.618e-05	8.885e-05	5.391e-05	0	0	0.0003	0	0	0	0	8.82e-05	0	0	0.011	0.55530	D	0.006	0.70582	D	0.923	0.51194	P	0.616	0.51268	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.18	0.61292	M	1.48	0.31731	T	-5.43	0.85323	D	0.674	0.68169	-0.9205	0.45486	T	0.134	0.44778	T	10	0.58995545	0.66324	D	0.036828	0.57236	D	0.298	0.61843	.	.	0.477794650704	0.47409	0.8482155204350722	0.84782	2.04135079315	0.94267	0.875310480595	0.93318	D	0.396367	0.75501	T	-0.134258	0.30810	T	-0.137142	0.60365	T	0.406061355304147	0.29170	T	0.983335	0.94364	D	0.7784789	0.82561	0.7697341	0.86404	0.7784789	0.82562	0.7697341	0.86404	-13.529	0.91424	D	.	.	0.572	0.67715	P	.	.	4.765008	0.77079	26.6	0.99409953787880556	0.63216	0.99026	0.90144	D	AEFDBI	0.879677	0.80579	D	0.706566342324271	0.80064	7.21195	0.733037379724311	0.84886	8.418772	0.999999965746671	0.74766	0.651	0.46895	0	0.633656	0.55848	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.67	5.67	0.87673	9.202000	0.94160	10.998000	0.84743	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.919	0.79334	160	0.93798	Piwi domain|Piwi domain|Piwi domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	551.98	35	chr1	35841671	.	A	T	551.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=800;ExcessHet=0.0000;FS=1.056;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.89;ReadPosRankSum=0.780;SOR=0.530	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1399	20	0	1	0
chr1	36086828	36086828	C	T	exonic	TEKT2	.	nonsynonymous SNV	TEKT2:NM_014466:exon5:c.C613T:p.P205S,	.	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	0.984	D	0.841	P	0.000	D	1.000	D	1.34	L	4.43	T	-0.887	T	0.016	T	0.7	2.972	15.91	5.64	2.654	5.971	19.699	0.296	0.0690138742328	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs760078059	9.577e-06	9.577e-06	1.361e-05	5.5e-06	0.0002	5.56e-06	4.35e-06	1.779e-05	8.93e-06	0	6.708e-05	0	0	0	0.0002	7.194e-06	3.311e-05	0	1.972e-05	1.97e-05	1.285e-05	2.691e-05	0.0001	5.24e-06	2.45e-06	2.263e-05	9.08e-06	0	0	0.0001	0	0	0	0	1.47e-05	0	0	0.309	0.14064	T	0.113	0.36901	T	0.984	0.60733	D	0.841	0.60228	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.285	0.32305	L	4.43	0.02158	T	-3.35	0.66436	D	0.773	0.77039	-0.8867	0.49215	T	0.016	0.06664	T	10	0.7442479	0.75174	D	0.069014	0.70612	D	0.296	0.61616	0.584	0.71118	0.256793551483	0.25290	0.6682317630948009	0.66761	0.315545276753	0.33830	0.540405809879	0.44502	T	0.233642	0.60049	T	-0.154469	0.27615	T	-0.262689	0.48555	T	0.81372857093811	0.47314	D	0.905909	0.66829	D	0.32133803	0.54752	0.43558022	0.67039	0.32133803	0.54752	0.43558022	0.67040	-6.646	0.51403	T	.	.	0.231	0.46389	B	.	.	3.539115	0.49694	22.8	0.99650067440537848	0.77254	0.98286	0.81270	D	AEFDBI	0.786375	0.71648	D	0.316110703133633	0.56975	3.863297	0.325400401473668	0.57037	3.868201	0.99999999999999	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.64	5.64	0.86480	6.085000	0.70992	5.912000	0.51036	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.606000	0.31539	0.0:1.0:0.0:0.0	19.699	0.96040	177	0.93145	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2774.98	35	chr1	36086828	.	C	T	2774.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.70;DP=909;ExcessHet=0.0000;FS=0.495;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.79;ReadPosRankSum=-1.198e+00;SOR=0.647	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1288	20	0	1	0
chr1	36089040	36089040	G	T	exonic	ADPRS	.	nonsynonymous SNV	ADPRS:NM_017825:exon1:c.G136T:p.V46F,	.	.	418	1103	1	0	0	1	0.000453104	.	.	1015728	Neurodegeneration,_childhood-onset,_stress-induced,_with_variable_ataxia_and_seizures|not_provided	MONDO:MONDO:0100095,MedGen:C4748527,OMIM:618170|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.981	D	0.825	P	0.001	N	1.000	D	2.455	M	1.55	T	-0.742	T	0.174	T	0.641	5.129	32	4.65	2.135	5.437	17.195	0.197	0.257770693612	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs749889837	3.253e-05	3.489e-05	3.415e-05	3.084e-05	0.0011	2.451e-05	2.178e-05	0.0005	0.0003	0	0	0	0	0	0.0011	2.097e-05	9.181e-05	0.0001	2.626e-05	2.625e-05	1.285e-05	4.027e-05	0.0002	8.14e-06	5.14e-06	2.257e-05	9.06e-06	0	0	0.0001	0	0	0	0.0034	0	0	0.0002	0.007	0.59928	D	0.306	0.19972	T	0.981	0.59675	D	0.825	0.59331	P	0.001313	0.39449	N	0.213391	0.999996	0.58761	D	2.28	0.64929	M	1.55	0.29866	T	-1.57	0.37955	N	0.618	0.63374	-0.7424	0.58329	T	0.174	0.51801	T	10	0.7178999	0.73467	D	0.257771	0.89382	D	0.197	0.47942	.	.	0.688106868972	0.68543	0.6384469848085935	0.63778	0.921772890521	0.71484	0.874318599701	0.93181	D	0.026146	0.19408	T	-0.00975929	0.50298	T	-0.251795	0.49639	T	0.755635440349579	0.43602	D	0.611339	0.23205	T	0.69003195	0.77513	0.4297266	0.66645	0.69003195	0.77515	0.4297266	0.66645	-3.854	0.21614	T	.	.	0.651	0.70974	P	.	.	4.912574	0.80845	27.4	0.99313942585234394	0.59129	0.57498	0.30392	D	ALL	0.420011	0.48700	N	0.632286899528451	0.75228	6.26886	0.59048987248702	0.74256	6.106278	1.0	0.98316	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	4.65	4.65	0.57626	2.827000	0.47813	11.321000	0.92526	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	17.195	0.86773	178	0.93097	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	536.98	33	chr1	36089040	.	G	T	536.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.060;DP=787;ExcessHet=0.0000;FS=2.117;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.14;ReadPosRankSum=0.258;SOR=0.580	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1086	20	0	1	0
chr1	36098036	36098036	C	T	exonic	COL8A2	.	nonsynonymous SNV	COL8A2:NM_001294347:exon4:c.G1450A:p.G484S	Corneal dystrophy, Fuchs endothelial, 1, Autosomal dominant;Corneal dystrophy, posterior polymorphous 2	.	.	.	.	.	.	.	.	.	.	1512894	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.28	T	0.981	D	0.553	P	0.054	N	1.000	D	2.705	M	-4.24	D	0.949	D	0.906	D	0.45	2.653	14.83	3.85	2.166	2.822	16.327	0.563	0.223354629826	.	.	0.0001	0.0002	0.0001	0	0	6.156e-05	0.0017	0.0002	5.82e-05	9	154602	rs780054210	5.345e-05	5.267e-05	4.83e-05	5.868e-05	0.0009	4.341e-05	4.011e-05	0.0004	0.0002	0.0002	0.0002	0	5.073e-05	0	0.0009	3.074e-05	8.371e-05	0.0002	9.86e-05	9.85e-05	7.711e-05	0.0001	0.0004	6.009e-05	4.882e-05	0.0002	0.0001	7.239e-05	0	0.0004	0	0	0	0	5.884e-05	0.0005	0.0002	0.228	0.23541	T	0.132	0.40110	T	0.981	0.59675	D	0.553	0.49313	P	0.053595	0.22795	N	0.490245	0.999761	0.48888	D	1.355	0.33814	L	-4.24	0.97030	D	-0.36	0.13035	N	0.155	0.25499	0.949	0.96385	D	0.906	0.96892	D	10	0.18485469	0.33879	T	0.223355	0.87898	D	0.563	0.82118	.	.	0.67569926003	0.67294	0.4999777597793418	0.49918	1.02307863419	0.75181	0.547991454601	0.45574	T	0.141022	0.47586	T	-0.0642576	0.42239	T	-0.036591	0.67930	D	0.0532507747411728	0.06062	T	0.812719	0.46941	T	0.089348026	0.20872	0.12736724	0.30660	0.09654623	0.22741	0.0993673	0.23722	-4.076	0.24935	T	.	.	0.104	0.18910	B	.;.;.	.;.;.	3.104294	0.41847	21.4	0.99573079059653813	0.72501	0.79312	0.39277	D	AEFBCI	0.641492	0.61881	D	0.365266632525459	0.59550	4.135385	0.304073934358086	0.55778	3.740706	0.999998248264309	0.74766	0.608966	0.35542	0	0.514364	0.08380	0	0.769059	0.98459	0	0.613276	0.41899	0	.	.	3.85	3.85	0.43556	1.164000	0.31420	5.908000	0.50981	0.587000	0.30956	0.047000	0.21291	1.000000	0.68203	0.255000	0.23391	0.0:1.0:0.0:0.0	16.327	0.82819	183	0.92871	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	657.98	34	chr1	36098036	.	C	T	657.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=786;ExcessHet=0.0000;FS=1.218;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.30;ReadPosRankSum=0.856;SOR=0.495	GT:AD:DP:GQ:PL	0/0:35,0:35:62:0,62,961	20	0	1	0
chr1	36099320	36099320	G	A	exonic	COL8A2	.	nonsynonymous SNV	COL8A2:NM_001294347:exon4:c.C166T:p.R56W	Corneal dystrophy, Fuchs endothelial, 1, Autosomal dominant;Corneal dystrophy, posterior polymorphous 2	.	2	1519	1	0	0	1	0.000329056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.875	P	0.000	D	0.921	D	1.04	L	-2.89	D	0.370	D	0.708	D	0.263	2.187	13.27	2.47	0.478	1.998	6.206	0.415	0.255311484584	.	0.000199681	0.0016	0	0	0.0096	0	0.0019	0	0	0.0003493	54	154602	rs201383455	0.0002	0.0002	0.0002	0.0002	0.0024	0.0002	0.0002	0.0020	0.0019	0	0	0.0051	0.0024	2.073e-05	0	3.642e-05	0.0003	3.656e-05	0.0003	0.0003	0.0003	0.0003	0.0037	0.0002	0.0002	0.0024	0.0020	0	0	0	0.0058	0.0037	0	0	1.476e-05	0	0	0.021	0.49117	D	0.104	0.38160	T	0.997	0.70673	D	0.875	0.62107	P	0.000005	0.62929	D	0.061282	0.92121	0.36683	D	0.55	0.14455	N	-2.89	0.91696	D	-0.97	0.25770	N	0.271	0.31140	0.370	0.88639	D	0.708	0.89944	D	10	0.007383734	0.00168	T	0.255311	0.89286	D	0.415	0.72555	0.494	0.58206	0.454402166774	0.45062	0.3874453968155254	0.38659	0.315069041011	0.33789	0.708464801311	0.68372	T	0.178078	0.52859	T	-0.312217	0.07554	T	-0.222728	0.52473	T	0.0913014857089934	0.11372	T	0.59824	0.38410	T	0.09066944	0.21222	0.07229294	0.15581	0.104539156	0.24713	0.0828098	0.18928	-8.26	0.62828	D	.	.	0.192	0.43448	B	.;.;.	.;.;.	3.542896	0.49765	22.8	0.99086312414442612	0.52100	0.67205	0.33349	D	AEFDBCI	0.699697	0.65696	D	0.22882124971645	0.52600	3.433176	0.190297427493165	0.49315	3.136089	0.999991743748032	0.74766	0.533608	0.22052	0	0.547309	0.14657	0	0.576033	0.28219	0	0.638833	0.57524	0	.	.	4.57	2.47	0.29113	1.715000	0.37591	1.810000	0.28954	-0.179000	0.10443	0.701000	0.28635	0.974000	0.29927	0.986000	0.61781	0.0:0.2736:0.3399:0.3866	6.206	0.19817	183	0.92871	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	314.98	31	chr1	36099320	.	G	A	314.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.250e-01;DP=694;ExcessHet=0.0000;FS=4.359;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.00;ReadPosRankSum=-7.200e-02;SOR=0.399	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1052	20	0	1	0
chr1	36171270	36171270	T	A	exonic	MAP7D1	.	nonsynonymous SNV	MAP7D1:NM_001286365:exon2:c.T346A:p.S116T	.	.	435	1086	0	1	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.9	P	0.366	B	0.019	N	1.000	D	1.15	L	3.47	T	-0.927	T	0.015	T	0.242	3.593	18.30	4.03	0.975	0.162	5.309	0.042	0.00991749520474	.	.	7.152e-05	0	0	0	0	1.585e-05	0	0.0006	5.17e-05	8	154602	rs752170476	5.217e-05	5.267e-05	3.315e-05	7.146e-05	0.0011	4.262e-05	3.888e-05	0.0005	0.0004	0	0	0	0	0	0.0011	1.181e-05	6.756e-05	0.0006	3.285e-05	3.281e-05	2.572e-05	4.031e-05	0.0006	1.261e-05	7.98e-06	0.0002	8.996e-05	0	0	0	0	0	0	0.0034	1.471e-05	0	0.0006	0.005	0.63226	D	0.193	0.54934	T	0.275	0.49598	B	0.037	0.43381	B	0.019230	0.27304	N	0.179595	0.979245	0.25195	N	1.995	0.54099	M	3.42	0.05507	T	-1.47	0.35991	N	0.272	0.30800	-0.9275	0.44502	T	0.015	0.05849	T	10	0.047278255	0.04026	T	0.009917	0.25833	T	0.042	0.11227	0.241	0.17371	0.082315109003	0.07666	0.27148604307034246	0.27061	0.374654094666	0.38927	0.505684018135	0.39620	T	0.013828	0.11884	T	-0.431899	0.01444	T	-0.543912	0.17914	T	0.108115449307731	0.13227	T	0.748625	0.50261	T	0.09514694	0.22385	0.08148963	0.18524	0.09514694	0.22385	0.08148963	0.18524	-4.105	0.26679	T	.	.	0.074	0.11076	B	.;.;.;.;.	.;.;.;.;.	1.862946	0.23667	16.10	0.99374258927740555	0.61585	0.28851	0.23665	N	AEFDGBI	0.149614	0.27373	N	-0.291989923545535	0.29455	1.633667	-0.234444869251623	0.30310	1.705539	0.999987466785034	0.51787	0.722319	0.85440	0	0.702456	0.74545	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	5.17	4.03	0.46115	0.408000	0.20787	1.989000	0.30069	0.651000	0.53179	0.815000	0.29920	0.995000	0.32472	0.984000	0.60418	0.0:0.0888:0.1805:0.7306	5.309	0.15126	191	0.92559	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	451.98	29	chr1	36171270	.	T	A	451.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.975;DP=679;ExcessHet=0.0000;FS=2.700;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.04;ReadPosRankSum=0.949;SOR=0.518	GT:AD:DP:GQ:PL	0/0:26,0:26:73:0,73,846	20	0	1	0
chr1	36178424	36178424	G	T	exonic	MAP7D1	.	nonsynonymous SNV	MAP7D1:NM_001286365:exon9:c.G1603T:p.A535S	.	.	411	1106	5	0	0	5	0.0022553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.649	P	0.275	B	0.002	N	1.000	D	0.69	N	3.63	T	-0.995	T	0.022	T	0.147	1.994	12.63	2.59	1.152	2.240	9.024	0.041	0.00880160566495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.744e-06	2.736e-06	0	5.518e-06	0.0004	6.4e-07	4.3e-07	7.056e-05	2.942e-05	0	0	0	0	0	0.0004	9.001e-07	1.663e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.34621	T	0.363	0.18125	T	0.419	0.40609	B	0.275	0.40079	B	0.001694	0.38271	N	0.000000	1	0.81001	D	1.79	0.46772	L	2.64	0.12780	T	-1.01	0.28906	N	0.218	0.24385	-0.9949	0.31326	T	0.022	0.09238	T	10	0.10526258	0.19447	T	0.008802	0.23221	T	0.041	0.10877	0.175	0.08135	0.161926535498	0.15789	0.1592408061750861	0.15845	0.431555471661	0.43355	0.425890386105	0.28647	T	0.006707	0.06137	T	-0.237887	0.15619	T	-0.579484	0.14592	T	0.210925922063062	0.21001	T	0.848715	0.53056	T	0.079965174	0.18299	0.0939751	0.22222	0.079965174	0.18298	0.0939751	0.22221	-3.861	0.21794	T	.	.	0.085	0.10062	B	.;.;.	.;.;.	2.910457	0.38601	20.8	0.98677189039939472	0.44554	0.85996	0.45198	D	AEFDBCI	0.145189	0.26834	N	-0.397833627590146	0.25546	1.387534	-0.382412573233495	0.25522	1.404013	0.999973243865281	0.50053	0.72623	0.87236	0	0.702456	0.74545	0	0.594344	0.31042	0	0.711	0.71501	0	.	.	4.68	2.59	0.30091	1.091000	0.30526	3.192000	0.36708	0.676000	0.76740	0.208000	0.24400	1.000000	0.68203	0.354000	0.25750	0.0963:0.1568:0.7469:0.0	9.024	0.35380	152	0.94023	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	692.98	33	chr1	36178424	.	G	T	692.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.020e-01;DP=760;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.83;ReadPosRankSum=1.33;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,940	20	0	1	0
chr1	36178425	36178425	C	T	exonic	MAP7D1	.	nonsynonymous SNV	MAP7D1:NM_001286365:exon9:c.C1604T:p.A535V	.	.	412	1105	5	0	0	5	0.00225734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.787	P	0.275	B	0.002	N	1.000	D	0.69	N	3.77	T	-1.080	T	0.028	T	0.28	3.472	17.77	4.68	2.429	4.227	16.315	0.059	0.00952563922711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.058e-06	2.736e-06	0	4.138e-06	0.0004	5.5e-07	1.5e-07	7.048e-05	2.939e-05	0	0	0	0	0	0.0004	0	1.663e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.57480	D	0.14	0.34959	T	0.59	0.44504	P	0.275	0.40079	B	0.001694	0.38271	N	0.000000	0.550373	0.81001	D	1.79	0.46772	L	2.54	0.13916	T	-1.57	0.42575	N	0.138	0.13626	-1.0796	0.07426	T	0.028	0.11882	T	10	0.13770357	0.26194	T	0.009526	0.24947	T	0.059	0.16972	0.249	0.18602	0.102598925029	0.09809	0.19402327189147608	0.19320	0.526218639335	0.50253	0.45193707943	0.32209	T	0.013469	0.11642	T	-0.172023	0.24929	T	-0.484876	0.23930	T	0.816351711750031	0.47504	D	0.885211	0.61002	D	0.1693656	0.37448	0.17590159	0.40087	0.1693656	0.37448	0.17590159	0.40087	-5.237	0.39774	T	.	.	0.090	0.12702	B	.;.;.	.;.;.	3.816944	0.55095	23.6	0.99871579071747996	0.94902	0.93919	0.59572	D	AEFDBCI	0.481727	0.52290	N	-0.0832575852697836	0.38127	2.228298	-0.0575215193603278	0.37165	2.172503	0.999999999997304	0.74766	0.72623	0.87236	0	0.702456	0.74545	0	0.594344	0.31042	0	0.711	0.71501	0	.	.	4.68	4.68	0.58319	3.465000	0.52828	4.795000	0.44928	0.599000	0.40250	0.248000	0.24829	1.000000	0.68203	0.359000	0.25863	0.0:1.0:0.0:0.0	16.315	0.82749	152	0.94023	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	692.98	33	chr1	36178425	.	C	T	692.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.382;DP=760;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.83;ReadPosRankSum=1.23;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,940	20	0	1	0
chr1	36282637	36282637	G	A	exonic	THRAP3	.	nonsynonymous SNV	THRAP3:NM_001321473:exon3:c.G74A:p.R25H	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.991	D	0.000	D	1.000	D	1.245	L	2.27	T	-1.129	T	0.096	T	0.646	4.163	21.5	5.76	2.880	6.676	19.331	0.312	0.0219548418032	.	.	4.942e-05	0	0	0	0	7.492e-05	0	6.057e-05	4.53e-05	7	154602	rs577828247	6.088e-05	6.088e-05	5.989e-05	6.188e-05	0.0001	5.028e-05	4.672e-05	5.597e-05	5.11e-05	0	4.472e-05	0	0.0001	0	0	6.835e-05	3.311e-05	4.638e-05	5.916e-05	5.911e-05	6.426e-05	5.383e-05	0.0002	3.079e-05	2.211e-05	4.765e-05	3.339e-05	2.414e-05	0	0	0	0.0002	0	0	0.0001	0	0	0.0	0.91255	D	0.16	0.31427	T	0.999	0.77913	D	0.991	0.79672	D	0.000410	0.44736	D	0.157745	0.999583	0.47691	D	1.1	0.28011	L	2.27	0.17431	T	-2.17	0.49018	N	0.652	0.66272	-1.1290	0.01830	T	0.096	0.36159	T	10	0.33236295	0.50444	T	0.021955	0.44796	T	0.312	0.63375	0.337	0.32654	0.334885890373	0.33091	0.3445540227078299	0.34368	0.543186546507	0.51402	0.770537376404	0.77505	T	0.574855	0.85983	D	-0.135981	0.30531	T	-0.252808	0.49539	T	0.454236447811127	0.30953	T	0.729627	0.34527	T	0.31902105	0.54557	0.30743137	0.56765	0.31902105	0.54557	0.30743137	0.56764	-7.663	0.58750	D	.	.	0.363	0.66347	A	.;.;.	.;.;.	5.133998	0.85931	28.7	0.99848205627326392	0.92750	0.98152	0.80048	D	AEFGBI	0.669937	0.63719	D	0.757642030367013	0.83404	8.008101	0.784649443880171	0.88707	9.683866	0.999951811738422	0.48110	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.76	5.76	0.90726	5.892000	0.69531	11.809000	0.96880	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.331	0.94276	132	0.94697	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1063.98	38	chr1	36282637	.	G	A	1063.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.335;DP=805;ExcessHet=0.0000;FS=1.528;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.67;ReadPosRankSum=-6.610e-01;SOR=0.874	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1299	20	0	1	0
chr1	36289168	36289168	G	C	exonic	THRAP3	.	nonsynonymous SNV	THRAP3:NM_001321473:exon5:c.G1149C:p.L383F	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.852	P	0.509	P	0.021	N	0.948	N	1.1	L	2.47	T	-1.071	T	0.029	T	0.301	2.369	13.88	2.03	0.498	1.024	2.991	0.090	0.00365096861627	0.0005	0.000399361	0.0007	0.0003	0.0003	0	0	0.0005	0.0022	0.0025	0.0005757	89	154602	rs143880396	0.0006	0.0006	0.0005	0.0007	0.0026	0.0005	0.0005	0.0023	0.0022	8.961e-05	0.0002	0	0	0	0	0.0005	0.0006	0.0026	0.0004	0.0004	0.0004	0.0004	0.0023	0.0003	0.0003	0.0013	0.0010	0.0002	0	0.0001	0	0	0	0	0.0005	0.0005	0.0023	0.114	0.28646	T	0.717	0.05398	T	0.852	0.47012	P	0.509	0.47904	P	0.021364	0.26847	N	0.259072	0.947668	0.26593	N	1.445	0.36358	L	2.47	0.14783	T	-0.11	0.08653	N	0.149	0.15187	-1.0709	0.09216	T	0.029	0.12365	T	10	0.008604348	0.00195	T	0.003651	0.08402	T	0.090	0.26093	0.109	0.01988	0.128874641272	0.12493	0.031235033467607348	0.03072	1.29145872245	0.82792	0.397834897041	0.24768	T	0.10514	0.41534	T	-0.520429	0.00438	T	-0.525574	0.19731	T	0.0256025769630305	0.01352	T	0.847115	0.52772	T	0.037835494	0.04926	0.052640162	0.08711	0.037835494	0.04925	0.052640162	0.08710	-3.059	0.10831	T	.	.	0.063	0.04806	B	.;.;.	.;.;.	2.622597	0.34083	19.53	0.9975862959388142	0.84851	0.94965	0.62950	D	AEFBI	0.326876	0.42802	N	-0.0582867665394554	0.39233	2.310331	-0.0280581160971079	0.38453	2.266	0.870680260429495	0.25410	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.94	2.03	0.25714	0.663000	0.24735	3.907000	0.40386	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.2759:0.0:0.5216:0.2026	2.991	0.05619	128	0.94857	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	386.98	31	chr1	36289168	.	G	C	386.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.061e+00;DP=689;ExcessHet=0.0000;FS=2.958;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.06;ReadPosRankSum=-1.500e-01;SOR=0.557	GT:AD:DP:GQ:PL	0/0:34,0:34:90:0,90,1350	20	0	1	0
chr1	36308160	36308160	C	G	exonic	SH3D21	.	nonsynonymous SNV	SH3D21:NM_024676:exon5:c.C257G:p.P86R	.	.	414	1079	27	2	0	31	0.0141617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.97	D	0.147	U	1.000	N	1.665	L	2.9	T	-1.087	T	0.050	T	0.704	3.456	17.71	5.02	2.491	1.965	14.188	0.156	0.00993666005988	0.0057	0.00199681	0.0052	0.0005	0.0025	0	0.0054	0.0059	0.0055	0.0065	0.0013389	207	154602	rs76695875	0.0046	0.0044	0.0044	0.0047	0.0067	0.0045	0.0044	0.0057	0.0055	0.0004	0.0014	0.0068	2.798e-05	0.0022	0.0067	0.0049	0.0046	0.0062	0.0029	0.0029	0.0033	0.0025	0.0058	0.0027	0.0026	0.0041	0.0037	0.0011	0	0.0018	0.0084	0.0002	0.0015	0.0034	0.0042	0.0033	0.0058	0.003	0.68238	D	0.013	0.63109	D	0.994	0.66517	D	0.854	0.60866	P	0.146926	0.18097	U	0.509628	1	0.81001	D	.	.	.	2.9	0.10101	T	-3.83	0.72120	D	0.582	0.61002	-1.0868	0.06084	T	0.050	0.21182	T	10	0.009480596	0.00214	T	0.009937	0.25878	T	0.156	0.40720	.	.	0.539478914628	0.53600	0.48378686536910653	0.48298	0.405877712896	0.41475	0.518329381943	0.41391	T	.	.	.	-0.344608	0.05075	T	-0.266691	0.48154	T	0.0124233849397936	0.00204	T	0.933007	0.75759	D	.	.	.	.	.	.	.	.	-9.139	0.68587	D	.	.	0.228	0.46049	B	.;.	.;.	4.039143	0.59786	24.1	0.99840426847059882	0.92057	0.78089	0.38476	D	AEFDBI	0.163636	0.28993	N	0.524277252940655	0.68531	5.229837	0.501612177123755	0.68099	5.173562	0.999998091427557	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.731467	0.93227	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	1.910000	0.39557	6.002000	0.52504	0.596000	0.33519	0.959000	0.33545	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	14.188	0.65160	126	0.94940	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	717.98	43	chr1	36308160	.	C	G	717.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.198;DP=984;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.20;ReadPosRankSum=1.05;SOR=0.678	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	20	0	1	0
chr1	36320499	36320500	GA	-	exonic	SH3D21	.	frameshift deletion	SH3D21:NM_024676:exon11:c.1503_1504del:p.E503Gfs*23	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	.	0.0003	9.921e-05	0	0	0	0	0	0.0019	0.0002135	33	154602	rs767626565	9.782e-05	9.782e-05	5.309e-05	0.0001	0.0016	8.444e-05	7.921e-05	0.0014	0.0013	0	0	0	0	0	0	1.799e-06	6.623e-05	0.0016	3.943e-05	3.938e-05	2.572e-05	5.375e-05	0.0010	1.716e-05	1.13e-05	0.0004	0.0003	0	0	6.541e-05	0	0	0	0	0	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2017.94	37	chr1	36320498	.	TGA	T	2017.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.030e-01;DP=879;ExcessHet=0.0000;FS=7.373;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.02;ReadPosRankSum=-2.740e-01;SOR=0.420	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr1	37557737	37557737	A	G	exonic	DNALI1	.	nonsynonymous SNV	DNALI1:NM_003462:exon2:c.A216G:p.I72M,	.	.	.	.	.	.	.	.	.	.	.	2338943	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.997	D	0.996	D	0.000	D	1.000	N	2.785	M	0.27	T	-0.847	T	0.198	T	0.777	0.938	8.821	0.181	-0.219	0.062	4.435	0.143	0.0380902021183	0.0015	0.000399361	0.0008	0.0007	0.0002	0	0.0002	0.0013	0	6.072e-05	0.0007438	115	154602	rs144577882	0.0012	0.0012	0.0013	0.0012	0.0015	0.0012	0.0012	0.0015	0.0014	0.0004	0.0003	3.83e-05	0	7.49e-05	0	0.0015	0.0012	1.16e-05	0.0009	0.0009	0.0011	0.0007	0.0015	0.0008	0.0007	0.0013	0.0012	0.0004	0	0.0008	0	0	0.0002	0	0.0015	0	0	0.028	0.46129	D	0.054	0.47097	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	.	.	.	0.27	0.59176	T	-2.79	0.59059	D	0.747	0.74644	-0.8469	0.52182	T	0.198	0.55258	T	10	0.09365544	0.16590	T	0.03809	0.58011	D	0.421	0.73005	.	.	0.158396225186	0.15383	0.7965954312169465	0.79612	0.213251863673	0.23835	0.619795501232	0.55700	T	.	.	.	-0.19336	0.21767	T	-0.0751519	0.65256	T	0.0782050369736902	0.09755	T	0.918608	0.70760	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.647	0.70820	P	.	.	2.490687	0.32138	18.95	0.73247392516863252	0.10259	0.58592	0.30683	D	AEFDBI	0.348809	0.44281	N	-0.292882038865773	0.29422	1.63147	-0.328274319583317	0.27190	1.507	0.99994232174901	0.47345	0.660085	0.49399	0	0.547309	0.14657	0	0.662677	0.59975	0	0.655142	0.61905	0	.	.	5.49	0.181	0.14356	0.081000	0.14677	-0.002000	0.13189	-0.966000	0.01961	0.978000	0.35038	0.220000	0.23707	0.840000	0.39645	0.1516:0.4121:0.0:0.4363	4.435	0.10971	913	0.21160	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1029.98	35	chr1	37557737	.	A	G	1029.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.584;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=-6.160e-01;SOR=0.722	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr1	37613865	37613865	G	A	exonic	RSPO1	.	nonsynonymous SNV	RSPO1:NM_001242908:exon6:c.C464T:p.P155L	Palmoplantar hyperkeratosis and true hermaphroditism, Autosomal recessive;Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, Autosomal recessive	.	0	1516	6	0	0	6	0.00197498	.	.	2015964	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.19	T	0.001	B	0.003	B	0.127	N	1.000	N	1.545	L	0.47	T	-0.998	T	0.123	T	0.095	1.372	10.52	1.41	-0.017	1.575	9.279	0.038	0.0281338452972	0.0004	0.000199681	0.0003	0.0001	0.0003	0	0	0.0005	0.0011	0.0003	0.0002846	44	154602	rs201102260	0.0003	0.0003	0.0002	0.0003	0.0078	0.0002	0.0002	0.0060	0.0054	0.0005	0.0002	3.826e-05	0	3.749e-05	0.0078	0.0002	0.0008	0.0003	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0002	0.0002	0.0002	0	0.0001	0	0	0	0.0034	0.0004	0.0005	0	0.183	0.21718	T	0.192	0.30631	T	0.001	0.07471	B	0.001	0.08700	B	0.127430	0.18768	N	0.583334	0.999975	0.18878	N	1.9	0.50570	L	0.47	0.56114	T	-2.47	0.53898	N	0.237	0.31702	-0.9976	0.30590	T	0.123	0.42483	T	10	0.086111635	0.14604	T	0.028134	0.50858	D	0.038	0.09825	.	.	0.440810947182	0.43702	0.2727745574519708	0.27190	0.28240478437	0.30698	0.337459117174	0.16057	T	0.443178	0.78706	T	-0.452503	0.01092	T	-0.561825	0.16206	T	0.0185511495419782	0.00570	T	0.848015	0.52922	T	0.041597407	0.06155	0.066615336	0.13670	0.041597407	0.06155	0.066615336	0.13670	-5.971	0.46571	T	.	.	0.069	0.02993	B	.;.;.	.;.;.	1.643079	0.20970	14.99	0.89132379006714624	0.18538	0.40521	0.26455	N	AEFBI	0.127633	0.24507	N	-0.717627050715592	0.15527	0.7832446	-0.670855618511111	0.17692	0.9418194	2.47405278296919E-5	0.03498	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.530356	0.10902	0	.	.	5.75	1.41	0.21461	1.657000	0.36981	1.042000	0.23565	-0.169000	0.11342	0.949000	0.33028	0.262000	0.23990	0.805000	0.37950	0.1474:0.0:0.7308:0.1219	9.279	0.36879	906	0.23090	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	765.98	34	chr1	37613865	.	G	A	765.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.325;DP=763;ExcessHet=0.0000;FS=1.091;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.73;ReadPosRankSum=1.62;SOR=0.904	GT:AD:DP:GQ:PL	0/0:37,0:37:90:0,90,1350	20	0	1	0
chr1	37762050	37762050	G	A	exonic	EPHA10	.	nonsynonymous SNV	EPHA10:NM_001099439:exon3:c.C205T:p.R69C	.	.	424	1069	26	3	0	32	0.0147465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.926	D	0.004	N	1.000	D	1.935	M	3.8	T	-1.180	T	0.036	T	0.592	3.548	18.10	2.48	0.543	2.289	11.672	0.134	0.0107500328856	0.0002	0.00179712	0.0019	0	0.0017	0.0001	0.0003	0.0019	0.0036	0.0056	0.0017852	276	154602	rs139705028	0.0016	0.0016	0.0015	0.0017	0.0070	0.0015	0.0015	0.0053	0.0047	0.0002	0.0016	0.0056	2.528e-05	0.0004	0.0070	0.0014	0.0018	0.0044	0.0015	0.0015	0.0014	0.0016	0.0039	0.0013	0.0013	0.0026	0.0021	0.0002	0	0.0027	0.0078	0	0	0.0102	0.0018	0.0033	0.0039	0.024	0.51248	D	0.031	0.53788	D	1.0	0.90584	D	0.926	0.66095	D	0.003624	0.34687	N	0.000000	0.547086	0.32102	D	1.905	0.50856	L	3.8	0.03781	T	-2.71	0.63207	D	0.528	0.60156	-1.1805	0.00362	T	0.036	0.15640	T	10	0.01110065	0.00244	T	0.01075	0.27641	T	0.134	0.36365	.	.	0.529060795929	0.52553	0.5526234330180877	0.55188	2.0033223038	0.93854	0.541827976704	0.44704	T	0.012956	0.15043	T	-0.443677	0.01230	T	-0.407754	0.32484	T	0.057858107406869	0.06828	T	0.977502	0.92063	D	0.15972182	0.35864	0.1407969	0.33551	0.15972182	0.35864	0.1407969	0.33550	-11.209	0.82735	D	.	.	0.383	0.62538	A	.;.;.	.;.;.	4.949938	0.81757	27.6	0.99882816473633473	0.95892	0.83327	0.42453	D	AEFBCI	0.471265	0.51688	N	0.362125253705163	0.59383	4.117242	0.288604604815824	0.54874	3.651146	1.1917662807318E-4	0.05269	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.47	2.48	0.29194	2.376000	0.43947	6.517000	0.55822	0.665000	0.62972	0.209000	0.24412	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.3893:0.6107	11.672	0.50668	850	0.35610	Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain;Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	962.98	37	chr1	37762050	.	G	A	962.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.10;DP=830;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.51;ReadPosRankSum=1.37;SOR=0.596	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1036	20	0	1	0
chr1	37822635	37822635	G	A	exonic	MTF1	.	nonsynonymous SNV	MTF1:NM_005955:exon9:c.C1253T:p.S418F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.914	P	0.606	P	0.002	N	1.000	D	0.55	N	2.83	T	-1.160	T	0.035	T	0.728	4.267	22.3	6.11	2.906	4.152	18.915	0.165	0.00694689791544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.011	0.64786	D	0.914	0.50529	P	0.606	0.50970	P	0.002487	0.36462	N	0.336090	0.999934	0.51612	D	2.045	0.56016	M	2.83	0.10771	T	-1.79	0.42191	N	0.669	0.67736	-1.1596	0.00766	T	0.035	0.14987	T	10	0.5400816	0.63669	D	0.006947	0.18402	T	0.165	0.42395	0.294	0.25720	0.335916738318	0.33200	0.36124736708149335	0.36038	0.625116535824	0.56694	0.601208567619	0.53075	T	.	.	.	0.0320576	0.55997	T	-0.191728	0.55427	T	0.834953165965201	0.48921	D	0.887111	0.61484	D	0.20430952	0.42537	0.41254905	0.65454	0.20430952	0.42536	0.41254905	0.65454	-6.687	0.51712	T	.	.	0.322	0.54675	B	.	.	4.775223	0.77344	26.7	0.99856921623862704	0.93548	0.98524	0.83701	D	AEFBI	0.640147	0.61794	D	0.486466976831538	0.66298	4.932242	0.589921905935652	0.74214	6.099428	0.999997961540574	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	6.11	6.11	0.99132	5.694000	0.67933	11.796000	0.96513	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.915	0.92473	820	0.40914	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1613.98	33	chr1	37822635	.	G	A	1613.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.87;DP=803;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=1.18;SOR=0.699	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1247	20	0	1	0
chr1	37969440	37969440	G	C	exonic	SF3A3	.	nonsynonymous SNV	SF3A3:NM_001320830:exon12:c.C1036G:p.L346V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.000	D	1.000	D	3.36	M	.	.	0.330	D	0.601	D	0.86	4.922	28.5	5.5	2.769	4.516	19.786	0.695	0.0404402354651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.005	0.72224	D	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.48	0.92553	M	.	.	.	-2.62	0.56301	D	0.735	0.73555	0.330	0.88030	D	0.601	0.85821	D	9	0.8010634	0.79507	D	0.04044	0.59376	D	0.695	0.88960	0.666	0.80401	0.502157479645	0.49853	0.9475430450175392	0.94737	2.2311931778	0.95933	0.866872191429	0.92117	D	0.474386	0.80585	T	0.382666	0.88879	D	0.311897	0.88739	D	0.968859957868249	0.68386	D	0.985781	0.95172	D	0.83350277	0.86148	0.68840945	0.81671	0.83350277	0.86150	0.68840945	0.81671	-10.738	0.78201	D	.	.	0.999	0.98631	P	.	.	5.166724	0.86585	29.0	0.99865253356157146	0.94366	0.98916	0.88583	D	AEFBI	0.696538	0.65485	D	0.88846885093404	0.91182	10.756	0.81904994074954	0.91085	10.71129	0.999999998534391	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	4.656000	0.61178	11.718000	0.94767	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	19.786	0.96436	458	0.78890	Domain of unknown function DUF3449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	31.98	65	chr1	37969440	.	G	C	31.98	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-2.749e+00;DP=1843;ExcessHet=0.1072;FS=242.021;InbreedingCoeff=-0.1382;MLEAC=2;MLEAF=0.067;MQ=60.00;MQRankSum=0.00;QD=0.24;ReadPosRankSum=-8.600e-02;SOR=11.492	GT:AD:DP:GQ:PL	0/0:74,0:74:31:0,31,1443	13	0	2	6
chr1	38018559	38018559	G	C	exonic	UTP11	.	nonsynonymous SNV	UTP11:NM_016037:exon4:c.G324C:p.K108N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.999	D	0.972	D	0.000	D	1.000	D	3.345	M	.	.	-0.227	T	0.449	T	0.477	3.565	18.17	2.22	0.497	0.252	9.297	0.490	0.0167503973626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0022	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0006	4.502e-05	0.0002	5.069e-05	0	0.0002	0.0007	0.0005	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.011	0.64786	D	0.999	0.77913	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	3.19	0.88972	M	.	.	.	-4.29	0.76414	D	0.835	0.83066	-0.2270	0.76966	T	0.449	0.78378	T	9	0.83418137	0.82576	D	0.01675	0.38152	T	0.490	0.77720	0.658	0.79585	0.617871938043	0.61477	0.7476237047205977	0.74708	0.921248380214	0.71459	0.757096290588	0.75498	T	0.412309	0.76651	T	0.0450001	0.57697	T	-0.173137	0.57156	T	0.995210707187653	0.87030	D	0.915408	0.69775	D	0.9537454	0.96647	0.87148213	0.92969	0.9537454	0.96648	0.87148213	0.92969	-9.692	0.72047	D	.	.	0.956	0.87520	P	.	.	3.385722	0.46848	22.4	0.99798773293668863	0.88372	0.86532	0.45832	D	AEFBI	0.315619	0.42014	N	0.307375534586297	0.56526	3.817	0.217027884145324	0.50791	3.267573	0.186501081710576	0.17944	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.07	2.22	0.27116	0.341000	0.19652	2.649000	0.33803	-0.102000	0.15922	0.995000	0.38783	1.000000	0.68203	0.994000	0.71098	0.729:0.0:0.271:0.0	9.297	0.36983	409	0.82198	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	408.29	34	chr1	38018559	.	G	C	408.29	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-2.071e+00;DP=1434;ExcessHet=0.1072;FS=158.603;InbreedingCoeff=-0.1270;MLEAC=2;MLEAF=0.063;MQ=60.00;MQRankSum=0.00;QD=2.46;ReadPosRankSum=1.48;SOR=7.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:79,0:79:14:.:.:0,14,1601	14	0	2	5
chr1	38018561	38018564	GGGT	-	exonic	UTP11	.	frameshift deletion	UTP11:NM_016037:exon4:c.326_329del:p.R109Mfs*10,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.578e-05	6.777e-05	2.184e-05	9.651e-06	3e-05	1.051e-05	8.78e-06	1.217e-05	1.033e-05	3e-05	0	0	0	0	0	1.894e-05	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	403.94	34	chr1	38018560	.	AGGGT	A	403.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.459e+00;DP=1682;ExcessHet=0.0000;FS=60.213;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.04;ReadPosRankSum=-5.730e-01;SOR=5.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:111,0:111:99:.:.:0,120,1800	20	0	1	0
chr1	38018564	38018564	-	CCCC	exonic	UTP11	.	frameshift insertion	UTP11:NM_016037:exon4:c.329_330insCCCC:p.A111Pfs*5,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	366.94	39	chr1	38018564	.	T	TCCCC	366.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.718e+00;DP=1111;ExcessHet=0.0000;FS=55.779;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=3.78;ReadPosRankSum=-9.200e-02;SOR=5.890	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,99,1485	20	0	1	0
chr1	39310999	39310999	A	G	exonic	MACF1	.	nonsynonymous SNV	MACF1:NM_012090:exon25:c.A3284G:p.E1095G,	.	.	430	1086	6	0	0	6	0.00275482	0.8309	0.846	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.979	D	.	.	1.000	D	2.135	M	-0.08	T	0.763	D	0.800	D	0.848	4.926	28.5	5.64	2.149	9.274	15.873	0.662	0.23801608769	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1008774166	5.483e-06	5.472e-06	2.727e-06	8.267e-06	0.0007	2.36e-06	1.71e-06	0.0002	0.0001	0	0	0	0	0	0.0007	2.7e-06	0	1.165e-05	6.568e-06	6.566e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.048	0.76473	D	0.907	0.50062	P	0.574	0.49998	P	.	.	.	.	0.944403	0.41895	D	.	.	.	-0.29	0.88533	T	-6.43	0.93366	D	0.524	0.59053	0.763	0.93952	D	0.800	0.93248	D	9	0.7536801	0.75823	D	0.238016	0.88569	D	0.662	0.87381	0.261	0.20473	0.86476991348	0.86345	0.26161540624014595	0.26074	.	.	0.509648442268	0.40174	T	0.172124	0.88079	T	0.38793	0.89203	D	0.319458	0.89067	D	0.988248679572791	0.78603	D	0.959604	0.87634	D	0.4489126	0.63972	0.6944314	0.82011	0.4489126	0.63972	0.6944314	0.82012	-8.965	0.67659	D	.	.	0.252	0.48654	B	.;.;.;.;.;.	.;.;.;.;.;.	4.405645	0.68111	25.2	0.99916924930059536	0.98449	0.99886	0.99947	D	AEFBI	0.917979	0.88639	D	0.767122628802243	0.84016	8.171224	0.763115421097482	0.87136	9.118418	0.999999988731413	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.64	5.64	0.86480	9.322000	0.95579	11.248000	0.90647	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	1.0:0.0:0.0:0.0	15.873	0.78922	570	0.70478	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	435.98	34	chr1	39310999	.	A	G	435.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.990e+00;DP=681;ExcessHet=0.0000;FS=1.399;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=0.446;SOR=0.432	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1172	20	0	1	0
chr1	39357639	39357639	G	A	exonic	MACF1	.	nonsynonymous SNV	MACF1:NM_012090:exon39:c.G5503A:p.E1835K,	.	.	371	1149	2	0	0	2	0.000869565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.000	D	1.000	D	2.34	M	0.85	T	-0.320	T	0.429	T	0.721	5.854	36	6.07	2.884	6.306	20.644	0.394	0.0155289910145	.	.	9.064e-05	0	0	0.0001	0.0002	1.499e-05	0	0.0005	7.12e-05	11	154602	rs767984628	5.199e-05	5.199e-05	1.77e-05	8.663e-05	0.0007	4.258e-05	3.888e-05	0.0006	0.0005	2.987e-05	0	0	0.0002	0	0	5.396e-06	4.967e-05	0.0007	5.253e-05	5.249e-05	0	0.0001	0.0012	2.556e-05	1.829e-05	0.0005	0.0004	0	0	0	0	0	0.0002	0	0	0	0.0012	0.026	0.68238	D	0.022	0.57587	D	1.0	0.90584	D	0.994	0.88582	D	0.000011	0.62929	D	0.000000	1	0.81001	D	.	.	.	0.85	0.47130	T	-3.74	0.71042	D	0.723	0.77319	-0.3197	0.74430	T	0.429	0.77166	T	10	0.36175263	0.52787	T	0.015529	0.36313	T	0.394	0.70924	0.595	0.72494	0.555997481481	0.55259	0.3137189551651749	0.31284	.	.	0.506075382233	0.39674	T	0.127631	0.74190	T	-0.170592	0.25146	T	-0.118657	0.61913	T	0.857739984989166	0.50846	D	0.935206	0.84889	D	0.51625514	0.68044	0.5028547	0.71262	0.46539727	0.65008	0.47232527	0.69410	-8.365	0.73564	D	.	.	0.156	0.44527	B	.;.;.;.;.;.	.;.;.;.;.;.	3.917058	0.57157	23.8	0.99939132682107601	0.99734	0.98576	0.84281	D	AEFBI	0.689048	0.64985	D	0.572546389207203	0.71465	5.655008	0.649787248932007	0.78596	6.907941	0.999999999798088	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	6.07	6.07	0.98675	6.417000	0.73244	11.908000	0.99523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.644	0.99572	583	0.69484	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1158.98	40	chr1	39357639	.	G	A	1158.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.16;DP=806;ExcessHet=0.0000;FS=3.977;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=-8.120e-01;SOR=1.194	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1232	20	0	1	0
chr1	39372528	39372528	A	G	exonic	MACF1	.	nonsynonymous SNV	MACF1:NM_012090:exon46:c.A6959G:p.N2320S,	.	.	435	1070	17	0	0	17	0.00788132	.	.	1666742	Lissencephaly_9_with_complex_brainstem_malformation|not_provided	MONDO:MONDO:0032677,MedGen:C5193029,OMIM:618325,Orphanet:572013|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.756	P	0.587	P	0.000	D	1.000	D	0.995	L	1.25	T	-1.014	T	0.087	T	0.066	2.678	14.91	5.87	2.258	1.768	5.090	0.078	0.0140217105871	0.0010	0.00159744	0.0025	9.707e-05	0.0017	0	0.0008	0.0018	0.0033	0.0095	0.0022768	352	154602	rs148069432	0.0018	0.0018	0.0014	0.0022	0.0112	0.0017	0.0017	0.0106	0.0103	0.0001	0.0008	0.0001	2.52e-05	0.0010	0.0073	0.0012	0.0023	0.0112	0.0012	0.0012	0.0011	0.0012	0.0106	0.0010	0.0010	0.0083	0.0074	0.0003	0	0.0006	0	0	0.0004	0.0034	0.0014	0.0024	0.0106	0.047	0.40319	D	0.198	0.27767	T	0.756	0.43409	P	0.587	0.50368	P	0.000475	0.44119	D	0.097855	0.991281	0.47641	D	.	.	.	1.25	0.36512	T	-3.48	0.68298	D	0.272	0.30800	-1.0143	0.25561	T	0.087	0.33857	T	10	0.0056358874	0.00125	T	0.014022	0.33851	T	0.078	0.22779	.	.	0.350697349064	0.34675	0.2509075869118216	0.25004	.	.	0.372067987919	0.21128	T	0.158204	0.83479	T	-0.585328	0.00179	T	-0.604164	0.12463	T	0.0798498266153988	0.09968	T	0.89891	0.65471	D	0.048631538	0.08506	0.08550179	0.19747	0.047225796	0.08038	0.08960598	0.20963	-8.263	0.67394	D	.	.	0.088	0.11701	B	.;.;.;.;.	.;.;.;.;.	1.564903	0.20044	14.56	0.99354921868190538	0.60738	0.80897	0.40420	D	AEFDBI	0.154011	0.27896	N	0.0397473736906661	0.43673	2.655599	0.197441580791304	0.49707	3.170703	0.997098033228771	0.35269	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	2.012000	0.40551	2.292000	0.31965	0.756000	0.94297	0.915000	0.31815	0.886000	0.27767	0.995000	0.73285	0.7098:0.1813:0.1088:0.0	5.090	0.14037	593	0.68665	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	884.98	38	chr1	39372528	.	A	G	884.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.737;DP=776;ExcessHet=0.0000;FS=5.678;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=-5.540e-01;SOR=1.023	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,114,1710	20	0	1	0
chr1	39412195	39412197	GAG	-	exonic	KIAA0754	.	nonframeshift deletion	KIAA0754:NM_015038:exon1:c.1930_1932del:p.E645del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2716.94	35	chr1	39412194	.	TGAG	T	2716.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.830;DP=832;ExcessHet=0.0000;FS=2.350;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.45;ReadPosRankSum=0.037;SOR=0.920	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1289	20	0	1	0
chr1	39414347	39414347	A	C	exonic	KIAA0754	.	nonsynonymous SNV	KIAA0754:NM_015038:exon1:c.A4082C:p.E1361A,	.	.	425	1084	13	0	0	13	0.00596057	.	.	2812693	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.987	D	0.638	P	.	.	1.000	N	0.55	N	1.65	T	-1.097	T	0.049	T	0.31	2.014	12.69	4.13	1.664	0.977	9.871	0.048	.	0.0058	0.00339457	0.0042	0.0015	0.0024	0	0.0040	0.0059	0.0068	0.0022	0.0041461	641	154602	rs78342613	0.0062	0.0062	0.0064	0.0060	0.0071	0.0061	0.0061	0.0070	0.0069	0.0011	0.0030	0.0024	5.038e-05	0.0057	0.0028	0.0071	0.0069	0.0023	0.0041	0.0041	0.0046	0.0037	0.0067	0.0039	0.0038	0.0062	0.0060	0.0014	0.0033	0.0029	0.0029	0	0.0040	0.0034	0.0067	0.0047	0.0014	.	.	.	0.018	0.59732	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.114	0.10198	-1.0975	0.04407	T	0.049	0.20829	T	9	0.0047133863	0.00099	T	.	.	.	0.048	0.13305	.	.	0.316310170894	0.31242	.	.	0.0512310808619	0.05634	0.300970971584	0.10545	T	0.056866	0.30407	T	-0.408392	0.02037	T	-0.356652	0.38440	T	0.0143324613209288	0.00286	T	0.508249	0.16142	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.32541	B	.;.	.;.	1.452021	0.18731	13.90	0.98207659076379761	0.39184	0.36571	0.25563	N	AEFDBCI	0.104875	0.20972	N	-0.00264177093971106	0.41737	2.501784	-0.0253563651691214	0.38574	2.274527	0.999999942115561	0.74766	0.722319	0.85440	0	0.546412	0.12157	0	0.698795	0.65105	0	0.657601	0.63696	0	.	.	4.13	4.13	0.47661	0.321000	0.19306	3.674000	0.39446	0.535000	0.24933	0.222000	0.24557	0.999000	0.35428	0.776000	0.36750	1.0:0.0:0.0:0.0	9.871	0.40343	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1216.98	34	chr1	39414347	.	A	C	1216.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.608e+00;DP=883;ExcessHet=0.0000;FS=2.588;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=-1.528e+00;SOR=0.481	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,111,1665	20	0	1	0
chr1	39447702	39447702	A	G	exonic	MACF1	.	nonsynonymous SNV	MACF1:NM_012090:exon77:c.A13595G:p.N4532S,	.	.	431	1090	1	0	0	1	0.000458505	.	.	2198956	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.998	D	0.995	D	0.000	D	1.000	D	1.53	L	0.8	T	-0.654	T	0.252	T	0.102	3.466	17.75	6.08	2.333	4.308	16.644	0.233	0.0113984610414	.	.	4.134e-05	0	0	0	0	2.997e-05	0.0011	0.0001	3.23e-05	5	154602	rs773396574	1.505e-05	1.505e-05	8.167e-06	2.2e-05	0.0001	9.85e-06	8.41e-06	7.997e-05	6.236e-05	2.987e-05	0	0	0	0	0	7.194e-06	1.656e-05	0.0001	5.256e-05	5.253e-05	1.285e-05	9.416e-05	0.0003	2.557e-05	1.83e-05	8.88e-05	5.388e-05	0	0	0.0003	0	0	0	0	4.409e-05	0	0.0002	0.045	0.44694	D	0.078	0.42261	T	0.998	0.73220	D	0.995	0.83170	D	0.000002	0.62929	D	0.000000	0.999966	0.58761	D	.	.	.	0.8	0.48769	T	-3.82	0.80851	D	0.342	0.43995	-0.6542	0.62530	T	0.252	0.62131	T	10	0.27025628	0.44556	T	0.011398	0.28987	T	0.233	0.53499	0.375	0.38830	0.45509904304	0.45135	0.09045480576465417	0.08978	.	.	0.437051713467	0.30174	T	0.130763	0.75234	T	-0.37652	0.03277	T	-0.518943	0.20401	T	0.872496247291565	0.52237	D	0.972478	0.90093	D	0.36965922	0.58560	0.37980813	0.63027	0.36965922	0.58560	0.37980813	0.63027	-5.859	0.45876	T	.	.	0.079	0.08609	B	.;.;.;.;.	.;.;.;.;.	2.414915	0.31045	18.62	0.99637430341738065	0.76449	0.97099	0.72683	D	AEFBI	0.607799	0.59762	D	0.657768229568064	0.76873	6.567261	0.679335738714515	0.80814	7.382967	0.999998959407411	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.08	6.08	0.98982	4.295000	0.58846	7.105000	0.57548	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.644	0.85012	753	0.51500	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2867.98	232	chr1	39447702	.	A	G	2867.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.250e+00;DP=964;ExcessHet=0.0000;FS=2.235;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.36;ReadPosRankSum=-7.740e-01;SOR=0.545	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1215	20	0	1	0
chr1	39511179	39511179	C	T	exonic	BMP8A	.	stopgain	BMP8A:NM_181809:exon2:c.C340T:p.R114X,	.	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	U	1.000	A	.	.	.	.	.	.	.	.	.	5.134	32	4.27	1.159	3.312	14.623	.	.	.	0.000199681	0	0	0	0	0	0	0	0	0.0001153	3	26028	rs547631836	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0002	0.0001	0.0001	3.846e-05	0.0001	0.0073	0	0	0.0006	4.468e-05	0.0005	0.0002	0.0002	0.0002	0.0002	0.0003	0.0008	0.0002	0.0002	0.0003	0.0002	0	0	0.0002	0.0072	0	0	0	7.382e-05	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	0.017357	0.27746	U	0.401617	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.118	0.10769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.360516	0.87295	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.793828	0.96867	36	0.99809330608905	0.89353	0.83669	0.42771	D	AEFDGBI	0.091886	0.18607	N	0.691264780835633	0.79061	6.998659	0.448872182114832	0.64645	4.724397	0.989309094174113	0.31782	0.554377	0.28877	0	0.491513	0.07743	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.2	4.27	0.50009	3.503000	0.53100	0.631000	0.20228	0.505000	0.23025	1.000000	0.71638	0.128000	0.22971	0.367000	0.26044	0.1471:0.8529:0.0:0.0	14.623	0.68202	713	0.56348	TGF-beta, propeptide	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	272.98	33	chr1	39511179	.	C	T	272.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.551e+00;DP=532;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=29.59;MQRankSum=-7.840e-01;QD=12.41;ReadPosRankSum=0.936;SOR=0.646	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1318	20	0	1	0
chr1	39511902	39511902	-	T	exonic	BMP8A	.	frameshift insertion	BMP8A:NM_181809:exon3:c.671_672insT:p.G225Rfs*66,	.	.	501	1020	1	0	0	1	0.000489956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1260465601	3.009e-06	4.163e-06	2.018e-06	3.989e-06	3.076e-05	8e-07	2.2e-07	4.6e-07	1.7e-07	0	3.076e-05	0	0	0	0	2.753e-06	0	0	8.558e-06	1.332e-05	0	1.795e-05	9.395e-05	0	0	.	.	0	0	9.395e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	93.97	8	chr1	39511902	.	A	AT	93.97	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=298;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0267;MLEAC=1;MLEAF=0.024;MQ=27.00;MQRankSum=0.00;QD=10.44;ReadPosRankSum=-9.920e-01;SOR=0.283	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:9,0:9:18:.:.:0,18,270	20	0	1	0
chr1	39511904	39511905	GG	-	exonic;splicing	BMP8A;BMP8A	.	frameshift deletion	BMP8A:NM_181809:exon3:c.673delG:p.H226Tfs*40,	.	.	546	26	383	566	1	1516	0.966816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1284964917	3.274e-06	4.184e-06	2.207e-06	4.319e-06	3.209e-05	8.7e-07	2.4e-07	5.1e-07	1.9e-07	0	3.209e-05	0	0	0	0	3.046e-06	0	0	9.616e-06	1.344e-05	0	2.033e-05	0.0001	0	0	.	.	0	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	7775.32	8	chr1	39511903	.	CGG	TGG,C	7775.32	.	AC=32,1;AF=0.762,0.024;AN=42;BaseQRankSum=2.52;DP=302;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2724;MLEAC=32,1;MLEAF=0.762,0.024;MQ=26.98;MQRankSum=0.00;QD=26.63;ReadPosRankSum=0.072;SOR=3.721	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,9,0:9:27:.:.:286,27,0,286,27,286	0	12	8	0
chr1	39841779	39841779	C	T	exonic	TRIT1	.	nonsynonymous SNV	TRIT1:NM_001312692:exon9:c.G1123A:p.G375R	.	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.023	B	0.016	B	0.434	N	1.000	N	0.695	N	0.9	T	-1.016	T	0.074	T	0.333	0.602	7.242	2.89	0.821	1.005	9.793	0.060	0.0124863768948	.	.	8.244e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs764987272	6.843e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	1.314e-05	1.313e-05	1.285e-05	1.346e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.106	0.30943	T	0.116	0.36497	T	0.023	0.18885	B	0.01	0.14941	B	0.434113	0.12711	N	0.739611	1	0.08975	N	0.805	0.20218	L	0.9	0.45636	T	-1.37	0.53898	N	0.156	0.22486	-1.0163	0.24916	T	0.074	0.29802	T	10	0.09721714	0.17494	T	0.012486	0.31109	T	0.060	0.17295	0.16	0.06396	0.571207575158	0.56786	0.21025216058579557	0.20941	0.331359197874	0.35213	0.328225016594	0.14665	T	0.024282	0.18375	T	-0.16784	0.25562	T	-0.463381	0.26232	T	0.0747063895998117	0.09295	T	0.816718	0.47282	T	0.04523579	0.07368	0.060634084	0.11581	0.04523579	0.07368	0.060634084	0.11580	-4.668	0.34766	T	.	.	0.082	0.15296	B	.;.;.;.;.	.;.;.;.;.	1.764548	0.22442	15.62	0.83105035185405596	0.14545	0.26784	0.23092	N	AEFBI	0.087118	0.17664	N	-0.75554664595724	0.14482	0.7218194	-0.734252360729576	0.16110	0.8506708	0.999851744363171	0.44174	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.93	2.89	0.32713	1.088000	0.30489	0.096000	0.14582	0.599000	0.40250	0.002000	0.15269	0.000000	0.08366	0.078000	0.17132	0.283:0.5806:0.1364:0.0	9.793	0.39882	78	0.96748	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1706.98	35	chr1	39841779	.	C	T	1706.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.469;DP=818;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=-3.750e-01;SOR=0.691	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1322	20	0	1	0
chr1	39901840	39901840	C	T	exonic	MYCL	.	nonsynonymous SNV	MYCL:NM_001033082:exon1:c.G49A:p.G17S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	.	.	.	.	0.904	N	1.000	D	-0.345	N	1.97	T	-1.002	T	0.144	T	0.068	2.478	14.25	2.12	0.343	0.273	4.681	0.043	0.639396131091	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1334492695	7.192e-06	3.283e-05	5.271e-06	9.204e-06	0.0003	3.09e-06	2.24e-06	2.857e-05	1.718e-05	0	6.815e-05	0	0	0	0.0003	1.08e-06	2.369e-05	8.395e-05	6.68e-06	6.582e-06	0	1.369e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.691	0.04957	T	0.723	0.05292	T	.	.	.	.	.	.	0.904317	0.08598	N	0.935361	1	0.81001	D	.	.	.	-0.88	0.74689	T	0.16	0.05217	N	0.202	0.22357	-1.0016	0.29459	T	0.144	0.46696	T	8	0.14148134	0.26883	T	0.639396	0.96923	D	0.043	0.11576	0.338	0.32816	0.328752806141	0.32485	0.16170744632608494	0.16091	0.661091555139	0.58901	0.765502154827	0.76750	T	.	.	.	-0.168591	0.25449	T	-0.479946	0.24452	T	0.297150194644928	0.24886	T	0.426857	0.11480	T	.	.	.	.	.	.	.	.	-4.064	0.25804	T	.	.	0.137	0.29995	B	.;.	.;.	2.019040	0.25655	16.84	0.98730695351639586	0.45348	0.52982	0.29262	D	ALL	0.071754	0.14295	N	-0.434995983689647	0.24251	1.30817	-0.38453085360722	0.25458	1.400125	0.999999999999741	0.74766	0.437478	0.07067	0	0.552344	0.17405	0	0.52208	0.10781	0	0.603991	0.37454	0	.	.	4.06	2.12	0.26372	0.777000	0.26379	0.378000	0.17749	-0.225000	0.07834	0.600000	0.27747	0.975000	0.29991	0.986000	0.61781	0.3832:0.5109:0.0:0.1059	4.681	0.12117	70	0.97015	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	215.98	23	chr1	39901840	.	C	T	215.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.660;DP=493;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.82;ReadPosRankSum=0.624;SOR=0.740	GT:AD:DP:GQ:PL	0/0:16,0:16:45:0,45,675	20	0	1	0
chr1	40069786	40069786	C	T	exonic	CAP1	.	nonsynonymous SNV	CAP1:NM_001105530:exon9:c.C905T:p.A302V	.	.	431	1075	14	2	0	18	0.00830258	.	.	3298832	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.837	P	0.434	B	0.000	D	1.000	D	1.545	L	2.76	T	-1.184	T	0.041	T	0.438	4.846	27.6	5.59	2.640	3.665	18.598	0.101	0.00627107017972	0.0003	0.000199681	0.0005	0.0002	0.0003	0	0.0003	0.0005	0.0011	0.0012	0.0003946	61	154602	rs201677980	0.0004	0.0004	0.0004	0.0004	0.0069	0.0004	0.0004	0.0052	0.0046	0.0003	0.0009	0.0003	0	0.0004	0.0069	0.0003	0.0008	0.0008	0.0005	0.0005	0.0005	0.0005	0.0014	0.0004	0.0004	0.0010	0.0008	0.0002	0	0.0014	0	0	0.0006	0.0068	0.0005	0.0014	0.0010	0.01	0.56456	D	0.05	0.48336	T	0.837	0.46346	P	0.434	0.45506	B	0.000009	0.62929	D	0.111766	0.999705	0.50595	D	2.305	0.65957	M	2.76	0.11515	T	-2.01	0.46337	N	0.205	0.22998	-1.1838	0.00317	T	0.041	0.17615	T	10	0.038006812	0.02191	T	0.006271	0.16464	T	0.101	0.28911	.	.	0.350697349064	0.34675	0.34790820602998895	0.34704	0.342173482841	0.36152	0.506744980812	0.39768	T	0.068491	0.33471	T	-0.382951	0.02984	T	-0.394346	0.34044	T	0.0612388219738065	0.07363	T	0.770723	0.40088	T	0.27285254	0.50354	0.22329414	0.47203	0.27285254	0.50354	0.22329414	0.47202	-6.553	0.50800	T	.	.	0.075	0.10304	B	.;.;.;.;.;.	.;.;.;.;.;.	3.291997	0.45147	22.1	0.9990005796791841	0.97199	0.94855	0.62564	D	AEFBCI	0.805473	0.73005	D	0.285680783092782	0.55421	3.706285	0.40573520871201	0.61922	4.399274	0.999999999968951	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.59	5.59	0.84677	4.447000	0.59762	3.357000	0.37830	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	18.598	0.91192	334	0.86273	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1281.98	33	chr1	40069786	.	C	T	1281.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.626;DP=846;ExcessHet=0.0000;FS=3.077;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.86;MQRankSum=0.00;QD=8.55;ReadPosRankSum=-1.205e+00;SOR=0.980	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1206	20	0	1	0
chr1	40237502	40237502	G	C	exonic	RLF	.	nonsynonymous SNV	RLF:NM_012421:exon8:c.G2800C:p.G934R,	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.0	B	0.001	B	0.568	N	0.995	N	0	N	2.52	T	-0.981	T	0.019	T	0.177	-0.261	2.749	6.06	2.882	1.443	9.527	0.097	0.00153096783757	.	0.000399361	0.0003	0	0	0	0	0	0	0.0020	0.0002329	36	154602	rs368404951	0.0002	0.0002	8.576e-05	0.0002	0.0026	0.0001	0.0001	0.0024	0.0023	0	0	0	0	0	0	8.993e-07	0.0002	0.0026	7.231e-05	7.221e-05	6.431e-05	8.067e-05	0.0023	3.973e-05	3.129e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.128	0.26965	T	0.33	0.18560	T	0.0	0.02946	B	0.0	0.01387	B	0.567976	0.11268	N	0.799167	0.995113	0.23368	N	0	0.06538	N	2.52	0.14160	T	0.34	0.03824	N	0.11	0.09631	-0.9813	0.34701	T	0.019	0.07753	T	10	0.004353404	0.00088	T	0.001531	0.02394	T	0.097	0.27909	0.316	0.29258	0.161926535498	0.15789	0.4405817733253024	0.43975	0.475177538353	0.46692	0.328413456678	0.14695	T	0.004663	0.04071	T	-0.605997	0.00134	T	-0.649416	0.08995	T	0.0440098829567432	0.04423	T	0.756624	0.37993	T	0.061098266	0.12615	0.10404994	0.24980	0.061098266	0.12614	0.10404994	0.24980	-3.897	0.22258	T	.	.	0.094	0.14660	B	.	.	1.894214	0.24061	16.25	0.76600235052327625	0.11534	0.61677	0.31555	D	AEFBI	0.134189	0.25411	N	-0.307542024567483	0.28862	1.595473	-0.0665595643935715	0.36781	2.145016	0.999945717923758	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	6.06	6.06	0.98340	1.532000	0.35634	6.437000	0.55645	0.676000	0.76740	0.584000	0.27618	1.000000	0.68203	0.998000	0.85391	0.0763:0.1859:0.7378:0.0	9.527	0.38338	764	0.49969	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1752.98	35	chr1	40237502	.	G	C	1752.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.670e-01;DP=926;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.07;ReadPosRankSum=-1.173e+00;SOR=0.652	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1062	20	0	1	0
chr1	40292475	40292475	C	T	exonic	ZMPSTE24	.	nonsynonymous SNV	ZMPSTE24:NM_005857:exon10:c.C1234T:p.R412C,	Mandibuloacral dysplasia with type B lipodystrophy, Autosomal recessive;Restrictive dermopathy, lethal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.29	M	-2.64	D	0.973	D	0.879	D	0.98	4.413	23.4	5.44	2.560	5.613	14.943	0.913	0.436463695309	.	.	1.652e-05	0	8.637e-05	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs766674328	1.3e-05	1.3e-05	1.497e-05	1.1e-05	2.52e-05	8.31e-06	6.7e-06	9.31e-06	7.61e-06	0	2.236e-05	0	2.52e-05	0	0	1.529e-05	0	0	3.288e-05	3.284e-05	3.858e-05	2.692e-05	5.883e-05	1.262e-05	7.99e-06	1.973e-05	1.125e-05	0	0	0	0	0	9.434e-05	0	5.883e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.845	0.95734	H	-2.64	0.90147	D	-7.47	0.94958	D	0.939	0.94550	0.973	0.96748	D	0.879	0.95995	D	10	0.96975756	0.96543	D	0.436464	0.94082	D	0.913	0.97700	.	.	0.99780080984	0.99777	0.9782087976914678	0.97811	0.851614069957	0.68559	0.868409514427	0.92340	D	0.954087	0.99359	D	0.415568	0.90786	D	0.442023	0.93374	D	0.999800741672516	0.99090	D	0.978627	0.92475	D	0.93689823	0.94932	0.7139044	0.83117	0.93689823	0.94932	0.7139044	0.83118	-11.083	0.80111	D	0.7734090512890593	0.85416	0.983	0.91661	P	.	.	5.933619	0.94106	33	0.99914771916250233	0.98309	0.97573	0.75637	D	AEFGBI	0.799377	0.72565	D	0.873931566404331	0.90426	10.398	0.809272797507848	0.90430	10.404	0.999999911551068	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	5.751000	0.68358	7.640000	0.63152	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1435:0.8565:0.0:0.0	14.943	0.70658	673	0.60677	Peptidase M48	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	584.98	39	chr1	40292475	.	C	T	584.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=754;ExcessHet=0.0000;FS=1.098;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=-4.500e-02;SOR=0.527	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1198	20	0	1	0
chr1	40292500	40292500	C	G	exonic	ZMPSTE24	.	nonsynonymous SNV	ZMPSTE24:NM_005857:exon10:c.C1259G:p.A420G,	Mandibuloacral dysplasia with type B lipodystrophy, Autosomal recessive;Restrictive dermopathy, lethal, Autosomal recessive	YES	12	1509	1	0	0	1	0.000331236	.	.	864352	Lethal_tight_skin_contracture_syndrome|Mandibuloacral_dysplasia_with_type_B_lipodystrophy|not_provided	MONDO:MONDO:0031213,MedGen:C0406585,OMIM:PS275210,Orphanet:1662|MONDO:MONDO:0012074,MedGen:C1837756,OMIM:608612,Orphanet:2457,Orphanet:90154|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.3	T	0.126	B	0.199	B	0.000	D	1.000	D	2.235	M	-0.9	T	-0.357	T	0.428	T	0.708	3.387	17.43	5.22	2.442	5.630	18.79	0.396	0.0429152660148	7.7e-05	0.000399361	2.473e-05	0	8.637e-05	0	0	2.997e-05	0	0	3.23e-05	5	154602	rs200751802	3.147e-05	3.147e-05	2.995e-05	3.3e-05	0.0021	2.412e-05	2.158e-05	0.0012	0.0009	0	6.71e-05	0.0008	0	0	0.0021	4.496e-06	8.279e-05	0	3.283e-05	3.281e-05	2.569e-05	4.028e-05	6.538e-05	1.26e-05	7.97e-06	4.88e-06	1.83e-06	0	0	6.538e-05	0.0006	0	0	0	2.94e-05	0	0	0.272	0.15930	T	0.325	0.18846	T	0.126	0.26920	B	0.199	0.36804	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.43	0.70455	M	-0.9	0.74896	T	-1.87	0.43717	N	0.523	0.55280	-0.3566	0.73363	T	0.428	0.77075	T	10	0.2204943	0.38748	T	0.042915	0.60713	D	0.396	0.71084	.	.	0.826746230026	0.82510	0.704813676113477	0.70423	0.209053692149	0.23371	0.702443182468	0.67497	T	0.713146	0.91834	D	0.0862395	0.62764	D	-0.0310341	0.68300	D	0.198717176914215	0.20345	T	0.982152	0.93936	D	0.5671789	0.70905	0.42037824	0.66003	0.5671789	0.70906	0.42037824	0.66003	-7.803	0.59720	D	0.4240832665756405	0.51237	0.135	0.29255	B	.	.	3.283636	0.45002	22.0	0.99353245856092864	0.60697	0.97974	0.78556	D	AEFGBI	0.799451	0.72571	D	0.184218131016374	0.50443	3.23411	0.308766090375813	0.56053	3.768349	0.999999999997253	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.22	5.22	0.72285	4.684000	0.61374	7.640000	0.63152	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.79	0.91935	673	0.60677	Peptidase M48	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	711.98	39	chr1	40292500	.	C	G	711.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.268e+00;DP=779;ExcessHet=0.0000;FS=2.057;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.37;ReadPosRankSum=0.441;SOR=0.454	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1198	20	0	1	0
chr1	40307755	40307755	C	A	exonic	COL9A2	.	nonsynonymous SNV	COL9A2:NM_001852:exon18:c.G902T:p.G301V,	Epiphyseal dysplasia, multiple, 2, Autosomal dominant	.	0	225	1	0	0	1	0.00221729	0.0193	0.08	1486100	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.964	D	0.784	P	0.000	D	1.000	D	4.09	H	-6.29	D	1.002	D	0.989	D	0.853	2.149	13.14	5.64	2.666	5.340	17.191	0.887	0.772824508068	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372191928	1.368e-06	1.368e-06	1.361e-06	1.375e-06	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	0.964	0.55854	D	0.784	0.57456	P	0.000000	0.84330	D	0.047985	1	0.81001	D	4.495	0.98962	H	-6.29	0.99632	D	-7.58	0.95276	D	0.873	0.87049	1.002	0.97223	D	0.989	0.99701	D	10	0.99255085	0.99791	D	0.772825	0.98205	D	0.887	0.96725	0.869	0.96265	0.973521263946	0.97323	0.9417514987636503	0.94156	1.00163694838	0.74428	0.717937231064	0.69746	T	0.401803	0.75900	T	0.496798	0.94191	D	0.475839	0.94114	D	0.999542832374573	0.97846	D	0.989957	0.96858	D	0.9298715	0.94224	0.8306375	0.90226	0.9298715	0.94225	0.8306375	0.90226	-14.464	0.94467	D	.	.	0.640	0.70507	P	.	.	3.723659	0.53221	23.3	0.97556424223569482	0.34598	0.98706	0.85820	D	AEFDBI	0.762252	0.69972	D	0.785788468520018	0.85207	8.508282	0.667844402789374	0.79948	7.191116	0.999995534054997	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.64	5.64	0.86480	5.410000	0.66123	7.572000	0.60737	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.112000	0.18829	0.0:1.0:0.0:0.0	17.191	0.86761	413	0.81939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1346.98	35	chr1	40307755	.	C	A	1346.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.574;DP=818;ExcessHet=0.0000;FS=0.890;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.20;ReadPosRankSum=-1.065e+00;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1184	20	0	1	0
chr1	40835000	40835000	C	G	exonic	KCNQ4	.	nonsynonymous SNV	KCNQ4:NM_172163:exon11:c.C1485G:p.F495L	Deafness, autosomal dominant 2A, Autosomal dominant	.	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.89	M	-7.35	D	-0.185	T	0.402	T	0.674	4.080	21.0	5.12	2.556	3.176	9.976	0.255	0.247178143203	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362729181	2.052e-06	2.052e-06	0	4.126e-06	1.159e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.76473	D	0.999	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	3.38	0.91446	M	-7.35	0.99869	D	-5.39	0.85617	D	0.928	0.93252	-0.1846	0.78064	T	0.402	0.75331	T	10	0.89689815	0.89045	D	0.247178	0.88958	D	0.851	0.95396	0.748	0.87905	0.969843054408	0.96951	0.8235286827099402	0.82309	2.25880593895	0.96158	0.889918684959	0.95250	D	0.97395	0.99733	D	0.271944	0.80615	D	0.249707	0.85607	D	0.995166182518005	0.86943	D	0.998857	0.99396	D	0.93243474	0.94481	0.83115786	0.90260	0.93243474	0.94482	0.83115786	0.90260	-11.408	0.81848	D	0.6888235918239645	0.76625	1.000	0.99585	P	.;.;.	.;.;.	4.668792	0.74591	26.2	0.99884928651743587	0.96049	0.92713	0.56364	D	AEFDGBI	0.613536	0.60119	D	0.448943527234692	0.64143	4.66234	0.472180803026082	0.66153	4.915186	0.99999988767714	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	5.12	5.12	0.69459	1.343000	0.33535	3.275000	0.37188	0.585000	0.30472	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9067:0.0:0.0933	9.976	0.40957	681	0.59854	Potassium channel, voltage dependent, KCNQ, C-terminal;Potassium channel, voltage dependent, KCNQ, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1467.98	33	chr1	40835000	.	C	G	1467.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.090e-01;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=0.502;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,105,1286	20	0	1	0
chr1	41143048	41143048	T	A	exonic	SCMH1	.	nonsynonymous SNV	SCMH1:NM_001172222:exon4:c.A71T:p.N24I	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.02	M	0.66	T	-0.182	T	0.366	T	0.839	4.883	28.0	6.07	2.326	7.698	15.465	0.615	0.1302606787	.	.	8.237e-06	0	8.639e-05	0	0	0	0	0	2.59e-05	4	154602	rs758534047	5.267e-05	5.267e-05	4.9e-05	5.638e-05	0.0003	4.277e-05	3.952e-05	6.092e-05	4.568e-05	2.987e-05	2.236e-05	0	0	0	0.0003	6.205e-05	6.623e-05	0	4.6e-05	4.597e-05	6.424e-05	2.69e-05	8.818e-05	2.109e-05	1.527e-05	3.761e-05	2.575e-05	2.413e-05	0	0	0	0	0	0	8.818e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.32	0.90714	M	0.66	0.52416	T	-7.18	0.97104	D	0.882	0.95491	-0.1823	0.78123	T	0.366	0.72666	T	10	0.8720329	0.86474	D	0.130261	0.81241	D	0.615	0.84986	0.667	0.80502	0.69255565639	0.68991	0.7720821085260523	0.77158	2.47156410767	0.97491	0.841175079346	0.88273	D	0.453704	0.79354	T	0.128687	0.67233	D	0.12292	0.78427	D	0.976850390434265	0.71571	D	0.985601	0.95813	D	0.93673897	0.94916	0.90577227	0.95388	0.93673897	0.94916	0.90577227	0.95388	-13.668	0.93303	D	.	.	0.993	0.94980	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.460154	0.69407	25.4	0.99348346203451465	0.60493	0.98368	0.82067	D	AEFBI	0.914949	0.87905	D	0.931089220420257	0.93199	11.88319	0.89529079311662	0.95363	13.55203	0.999999938690836	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	7.674000	0.83146	7.930000	0.74972	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	15.465	0.75119	542	0.72843	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1483.98	33	chr1	41143048	.	T	A	1483.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.390e+00;DP=819;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=-9.260e-01;SOR=0.681	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1258	20	0	1	0
chr1	41382209	41382209	-	GGGACGCCCGCCTACTTCGGCGGCTG	exonic	FOXO6	.	frameshift insertion	FOXO6:NM_001291281:exon3:c.1008_1009insGGGACGCCCGCCTACTTCGGCGGCTG:p.Q337Gfs*166,	.	.	632	828	31	5	26	67	0.0241603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013447	35	26028	.	0.0010	0.0006	0.0010	0.0009	0.0041	0.0009	0.0009	0.0014	0.0009	0.0007	0.0041	0.0008	0.0011	0.0036	0.0012	0.0010	0.0008	0.0012	0.0002	0.0005	0.0003	0.0002	0.0004	0.0002	0.0001	0.0001	9.233e-05	0.0001	0.0022	0.0002	0	0.0002	0.0006	0.0034	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	299.62	6	chr1	41382209	.	CCA	CGGGACGCCCGCCTACTTCGGCGGCTGCA,C	299.62	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-1.350e-01;DP=485;ExcessHet=0.1072;FS=17.602;InbreedingCoeff=-0.0614;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=14.98;ReadPosRankSum=0.431;SOR=4.336	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:24,0,0:24:51:.:.:0,51,765,51,765,765	19	0	1	0
chr1	41382210	41382211	CA	-	exonic	FOXO6	.	frameshift deletion	FOXO6:NM_001291281:exon3:c.1009_1010del:p.Q337Gfs*39,	.	.	632	828	31	5	26	67	0.0241603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	.	.	.	0.00073	19	26028	rs373524987	0.0043	0.0026	0.0045	0.0042	0.0067	0.0042	0.0042	0.0046	0.0041	0.0037	0.0031	0.0057	0.0067	0	0.0037	0.0043	0.0050	0.0039	4.089e-05	0.0013	5.307e-05	2.803e-05	4.548e-05	1.768e-05	1.164e-05	1.207e-05	6.35e-06	0	0	0	0	0	0.0004	0	4.548e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	299.62	6	chr1	41382209	.	CCA	CGGGACGCCCGCCTACTTCGGCGGCTGCA,C	299.62	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-1.350e-01;DP=485;ExcessHet=0.1072;FS=17.602;InbreedingCoeff=-0.0614;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=14.98;ReadPosRankSum=0.431;SOR=4.336	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:24,0,0:24:51:.:.:0,51,765,51,765,765	19	0	1	0
chr1	41382212	41382212	-	GGAC	exonic	FOXO6	.	frameshift insertion	FOXO6:NM_001291281:exon3:c.1011_1012insGGAC:p.A338Gfs*40,	.	.	580	911	21	4	6	35	0.0156672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00073	19	26028	.	0.0043	0.0026	0.0045	0.0042	0.0068	0.0042	0.0042	0.0048	0.0041	0.0038	0.0030	0.0057	0.0068	0	0.0037	0.0043	0.0048	0.0039	4.088e-05	0.0009	5.306e-05	2.803e-05	4.548e-05	1.768e-05	1.164e-05	1.207e-05	6.35e-06	0	0	0	0	0	0.0004	0	4.548e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	59.52	7	chr1	41382212	.	G	GGGAC	59.52	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.887;DP=443;ExcessHet=0.0000;FS=6.214;InbreedingCoeff=-0.0341;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.44;ReadPosRankSum=0.00;SOR=2.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:25,0:25:57:.:.:0,57,855	20	0	1	0
chr1	41510704	41510704	C	T	exonic	HIVEP3	.	nonsynonymous SNV	HIVEP3:NM_001127714:exon8:c.G6965A:p.R2322Q	.	.	441	1015	63	3	0	69	0.0328728	.	.	3210888	HIVEP3-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.42	T	0.003	B	0.001	B	0.526	N	1.000	N	0	N	3.4	T	-0.929	T	0.009	T	0.068	0.732	7.889	0.154	-0.132	0.231	1.573	0.034	.	0.0033	0.0117812	0.0356	0.0037	0.0047	0	0.0112	0.0201	0.04	0.0835	0.0068046	1052	154602	rs200138511	0.0077	0.0077	0.0066	0.0088	0.0436	0.0076	0.0075	0.0424	0.0419	0.0010	0.0022	0.0082	8.225e-05	0.0020	0.0284	0.0059	0.0077	0.0436	0.0056	0.0056	0.0049	0.0064	0.0464	0.0053	0.0052	0.0414	0.0395	0.0016	0.0044	0.0052	0.0052	0.0004	0.0011	0.0442	0.0063	0.0038	0.0464	0.416	0.09958	T	0.538	0.09829	T	0.003	0.11197	B	0.001	0.04355	B	0.525819	0.05228	N	1.391920	1	0.08975	N	0	0.06538	N	3.39	0.05710	T	0.64	0.02442	N	0.08	0.05542	-0.9292	0.44256	T	0.009	0.03227	T	10	0.0020682514	0.00029	T	.	.	.	0.034	0.08419	.	.	.	.	0.03731201195281724	0.03678	0.214794834796	0.24017	0.266823649406	0.05730	T	0.046228	0.27362	T	-0.750832	0.00017	T	-0.81916	0.01470	T	0.00646410931088923	0.00072	T	0.60194	0.22516	T	0.027802156	0.02024	0.022926616	0.00310	0.027802156	0.02024	0.022926616	0.00310	-3.947	0.23143	T	.	.	0.069	0.03231	B	.;.;.	.;.;.	0.081924	0.04879	1.465	0.97642700603971289	0.35091	0.08842	0.14710	N	AEFBHI	0.070481	0.13993	N	-1.0625697389421	0.07343	0.3407994	-1.03510641758133	0.09019	0.4464783	0.987168077761876	0.31199	0.615465	0.37627	0	0.633656	0.55848	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.9	0.154	0.14196	0.004000	0.13007	-2.331000	0.03890	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.915000	0.45038	0.1449:0.3654:0.2839:0.2058	1.573	0.02460	455	0.79073	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	757.98	36	chr1	41510704	.	C	T	757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.41;DP=977;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.85;ReadPosRankSum=0.626;SOR=0.661	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	20	0	1	0
chr1	41513021	41513021	G	A	exonic	HIVEP3	.	nonsynonymous SNV	HIVEP3:NM_001127714:exon7:c.C6200T:p.S2067L	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.012	B	0.008	B	0.127	N	0.996	N	0.805	L	3.25	T	-0.973	T	0.013	T	0.524	3.049	16.17	3.65	2.267	3.444	3.788	0.110	0.00301279413164	.	.	8.473e-06	9.952e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs764272543	8.213e-06	8.209e-06	4.085e-06	1.238e-05	0.0009	4.38e-06	3.46e-06	0.0003	0.0002	2.987e-05	0	0	0	0	0.0009	2.699e-06	3.313e-05	1.16e-05	2.627e-05	2.627e-05	3.853e-05	1.345e-05	2.411e-05	8.14e-06	5.14e-06	.	.	2.411e-05	0	0	0	0	0	0	1.47e-05	0.0010	0	0.34	0.29420	T	0.053	0.47336	T	0.012	0.16265	B	0.008	0.13708	B	0.127367	0.18770	N	0.390324	0.996389	0.23031	N	1.905	0.50856	L	3.22	0.07024	T	-1.52	0.36980	N	0.207	0.25622	-0.9733	0.36496	T	0.013	0.05177	T	10	0.092597336	0.16318	T	0.003013	0.06457	T	0.110	0.31079	.	.	0.18274738541	0.17906	0.34962550911170137	0.34876	0.239766953823	0.26521	0.449902534485	0.31931	T	0.198569	0.55559	T	-0.140293	0.29845	T	-0.439297	0.28888	T	0.572289049625397	0.35322	D	0.870713	0.57574	D	0.11398096	0.26914	0.06724581	0.13886	0.11398096	0.26913	0.06724581	0.13886	-5.41	0.41312	T	.	.	0.092	0.13362	B	.;.;.	.;.;.	3.669102	0.52162	23.2	0.99824448543016731	0.90677	0.31660	0.24393	N	AEFDBHI	0.054094	0.09806	N	-0.193649365890333	0.33398	1.894336	-0.0174438846248138	0.38927	2.300498	0.999787870971261	0.43007	0.562547	0.31514	0	0.653731	0.59785	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.65	3.65	0.40985	3.696000	0.54489	6.474000	0.55721	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.994000	0.71098	0.2185:0.2198:0.5617:0.0	3.788	0.08227	455	0.79073	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1069.98	52	chr1	41513021	.	G	A	1069.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.390e-01;DP=1290;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=0.648;SOR=0.710	GT:AD:DP:GQ:PL	0/0:63,0:63:99:0,120,1800	20	0	1	0
chr1	41513492	41513492	G	A	exonic	HIVEP3	.	nonsynonymous SNV	HIVEP3:NM_001127714:exon7:c.C5729T:p.T1910M	.	.	399	1122	1	0	0	1	0.000445434	.	.	3190695	HIVEP3-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.1	T	0.263	B	0.055	B	0.002	N	1.000	N	0	N	3.33	T	-1.000	T	0.004	T	0.033	0.158	4.850	-8.01	-1.913	-0.900	2.599	0.024	.	0.0047	0.00559105	0.0013	0.0154	0.0004	0	0	0.0001	0.0012	6.414e-05	0.0013777	213	154602	rs78793608	0.0004	0.0004	0.0005	0.0003	0.0133	0.0004	0.0004	0.0123	0.0119	0.0133	0.0005	0	0	0	0.0007	5.403e-05	0.0014	4.651e-05	0.0042	0.0042	0.0044	0.0039	0.0140	0.0039	0.0038	0.0131	0.0127	0.0140	0	0.0024	0	0	0	0	7.352e-05	0.0033	0.0002	0.037	0.43085	D	0.118	0.36365	T	0.263	0.31569	B	0.055	0.25995	B	0.001817	0.00828	N	3.128720	1	0.08975	N	0	0.06538	N	3.32	0.06214	T	-0.77	0.21429	N	0.086	0.09349	-1.0000	0.29917	T	0.004	0.01330	T	10	0.0035306513	0.00063	T	.	.	.	0.024	0.04979	.	.	0.0551355673512	0.04727	0.121880320180958	0.12115	0.194979221601	0.21838	0.377998530865	0.21971	T	0.082802	0.36911	T	-0.756466	0.00016	T	-0.848357	0.00981	T	0.00895647808359673	0.00112	T	0.663934	0.27277	T	0.016761009	0.00220	0.032383263	0.01966	0.016761009	0.00220	0.032383263	0.01965	-4.908	0.35825	T	.	.	0.086	0.10497	B	.;.;.	.;.;.	-0.625234	0.01504	0.095	0.93684804394102728	0.23587	0.11565	0.16718	N	ALL	0.100632	0.20230	N	-1.71239594288208	0.00799	0.03451329	-1.83048480383393	0.00666	0.02964411	0.999999999957027	0.74766	0.533608	0.22052	0	0.858003	0.99906	0	0.505578	0.09266	0	0.638833	0.57524	0	.	.	4.0	-8.01	0.00991	-0.610000	0.05724	-1.963000	0.04425	-0.937000	0.02115	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1006:0.2776:0.3259:0.2959	2.599	0.04566	455	0.79073	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	750.98	51	chr1	41513492	.	G	A	750.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.660e-01;DP=857;ExcessHet=0.0000;FS=2.451;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.73;ReadPosRankSum=1.14;SOR=0.343	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:57,0:57:99:.:.:0,120,1800	20	0	1	0
chr1	41582203	41582203	G	T	exonic	HIVEP3	.	nonsynonymous SNV	HIVEP3:NM_001127714:exon3:c.C2595A:p.D865E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	0.802	D	2.305	M	1.02	T	-0.565	T	0.217	T	0.434	3.258	16.93	2.02	0.685	.	8.223	0.121	0.0182105355214	.	.	2.483e-05	0	0	0	0	4.506e-05	0	0	1.94e-05	3	154602	rs778633347	1.779e-05	1.779e-05	1.77e-05	1.788e-05	0.0002	1.237e-05	1.051e-05	1.94e-06	1.28e-06	0	0	0.0006	0	0	0.0002	5.396e-06	4.968e-05	0	6.573e-06	6.567e-06	0	1.346e-05	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000035	0.55875	D	0.000000	0.802022	0.34524	D	2.635	0.77114	M	1.02	0.40749	T	-3.11	0.63669	D	0.496	0.52918	-0.5653	0.66200	T	0.217	0.57863	T	10	0.31723675	0.49136	T	0.018211	0.40197	T	0.121	0.33580	0.257	0.19845	0.654655129132	0.65177	0.0919482193680621	0.09127	0.314679781646	0.33750	0.574180960655	0.49267	T	0.482431	0.81058	T	-0.137785	0.30243	T	-0.328038	0.41686	T	0.483133137226105	0.32012	T	0.948505	0.80194	D	0.38451982	0.59641	0.31570858	0.57555	0.38451982	0.59642	0.31570858	0.57555	-2.063	0.03428	T	.	.	0.245	0.55285	B	.;.;.	.;.;.	3.060401	0.41100	21.3	0.99562454827503433	0.71892	0.92938	0.56918	D	AEFDBI	0.361622	0.45117	N	0.352599855577195	0.58876	4.062744	0.251196661709771	0.52717	3.444714	0.976778883968443	0.29756	0.651	0.46895	0	0.708844	0.79440	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.95	2.02	0.25641	1.014000	0.29553	2.853000	0.35153	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.3179:0.0:0.6821:0.0	8.223	0.30714	486	0.77016	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1281.98	47	chr1	41582203	.	G	T	1281.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.395;DP=1366;ExcessHet=0.0000;FS=3.198;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.32;ReadPosRankSum=-5.510e-01;SOR=0.904	GT:AD:DP:GQ:PL	0/0:82,0:82:99:0,120,1800	20	0	1	0
chr1	41582286	41582286	G	A	exonic	HIVEP3	.	nonsynonymous SNV	HIVEP3:NM_001127714:exon3:c.C2512T:p.R838C	.	.	428	1090	4	0	0	4	0.0018315	.	.	3208506	HIVEP3-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.989	D	0.003	N	1.000	N	1.445	L	2.47	T	-1.111	T	0.051	T	0.354	2.272	13.55	2.08	0.284	2.229	6.570	0.089	0.0133525875099	0.0018	0.000998403	0.0005	0.0044	8.637e-05	0.0002	0	6.011e-05	0	0.0002	0.0004592	71	154602	rs147650565	0.0002	0.0002	0.0002	0.0002	0.0055	0.0002	0.0002	0.0048	0.0046	0.0055	6.708e-05	0	2.519e-05	0	0.0009	8.004e-05	0.0003	0.0002	0.0013	0.0013	0.0015	0.0012	0.0043	0.0012	0.0011	0.0037	0.0035	0.0043	0	0.0004	0	0.0002	0	0	0.0001	0.0028	0.0006	0.007	0.59928	D	0.003	0.76473	D	1.0	0.90584	D	0.989	0.78396	D	0.003450	0.34930	N	0.122763	0.999931	0.19363	N	1.5	0.37844	L	2.47	0.14783	T	-3.03	0.62747	D	0.711	0.71410	-1.1106	0.03019	T	0.051	0.21806	T	10	0.007449746	0.00169	T	0.013353	0.32685	T	0.089	0.25827	.	.	0.210429274316	0.20668	0.04876759845249928	0.04819	0.875281262772	0.69544	0.550227046013	0.45890	T	0.430851	0.77917	T	-0.485831	0.00685	T	-0.469272	0.25595	T	0.0523775674905097	0.05912	T	0.89801	0.64352	D	0.09723631	0.22918	0.077490754	0.17268	0.09723631	0.22918	0.077490754	0.17267	-5.161	0.38543	T	.	.	0.132	0.30686	B	.;.;.	.;.;.	4.008457	0.59116	24.1	0.99778025846802931	0.86519	0.87449	0.46992	D	AEFBI	0.443040	0.50051	N	-0.147233341610034	0.35353	2.029518	-0.266958410266916	0.29194	1.633669	0.869512958934658	0.25387	0.651	0.46895	0	0.708844	0.79440	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.95	2.08	0.26079	2.319000	0.43447	8.236000	0.76844	-0.135000	0.12811	0.780000	0.29473	1.000000	0.68203	0.553000	0.30245	0.128:0.0:0.6149:0.2571	6.570	0.21731	486	0.77016	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1571.98	47	chr1	41582286	.	G	A	1571.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.708;DP=1423;ExcessHet=0.0000;FS=1.503;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.79;ReadPosRankSum=-8.460e-01;SOR=0.906	GT:AD:DP:GQ:PL	0/0:82,0:82:99:0,120,1800	20	0	1	0
chr1	41584761	41584761	C	T	exonic	HIVEP3	.	nonsynonymous SNV	HIVEP3:NM_001127714:exon3:c.G37A:p.A13T	.	.	428	1093	1	0	0	1	0.000457247	.	.	3202448	HIVEP3-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.1	T	0.822	P	0.359	B	0.022	N	0.859	N	0.55	N	3.2	T	-1.038	T	0.008	T	0.117	2.430	14.08	2.52	1.262	0.874	7.494	0.035	.	0.0062	0.00419329	0.0016	0.0164	0.0003	0	0	4.693e-05	0.0025	0	0.0013325	206	154602	rs116266551	0.0004	0.0004	0.0005	0.0003	0.0167	0.0004	0.0004	0.0155	0.0151	0.0167	0.0006	0	2.573e-05	0	0.0013	5.624e-06	0.0010	5.721e-05	0.0043	0.0043	0.0046	0.0039	0.0147	0.0040	0.0039	0.0137	0.0133	0.0147	0	0.0018	0	0	0	0	2.94e-05	0.0043	0	0.015	0.63226	D	0.124	0.35840	T	0.822	0.45767	P	0.359	0.43123	B	0.021969	0.26727	N	0.268098	0.859461	0.28378	N	0.805	0.20218	L	3.19	0.07353	T	-0.2	0.10136	N	0.153	0.15749	-1.0384	0.17802	T	0.008	0.02638	T	10	0.0036333203	0.00066	T	.	.	.	0.035	0.08770	.	.	0.238096912614	0.23440	0.1766380018912037	0.17582	0.221929053935	0.24731	0.45787319541	0.33018	T	0.05603	0.30173	T	-0.621399	0.00108	T	-0.651747	0.08832	T	0.0291592752620616	0.01862	T	0.663034	0.27207	T	0.06557259	0.14026	0.09223937	0.21728	0.06557259	0.14026	0.09223937	0.21728	-3.802	0.20834	T	.	.	0.074	0.05103	B	.;.;.	.;.;.	2.397184	0.30792	18.55	0.99637253572058826	0.76449	0.88090	0.47868	D	AEFDBI	0.236729	0.35913	N	-0.0750237482509981	0.38490	2.255148	-0.000177137125577535	0.39710	2.358534	0.985981726442157	0.30984	0.562547	0.31514	0	0.653731	0.59785	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.55	2.52	0.29514	0.641000	0.24411	1.160000	0.24546	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	1.000000	0.97212	0.2603:0.6552:0.0:0.0845	7.494	0.26650	487	0.76954	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1099.98	40	chr1	41584761	.	C	T	1099.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.660e-01;DP=896;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=-2.900e-02;SOR=0.777	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	20	0	1	0
chr1	42577087	42577087	C	T	exonic	CCDC30	.	nonsynonymous SNV	CCDC30:NM_001080850:exon8:c.C923T:p.T308M	.	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.585	P	0.123	B	0.258	N	0.997	N	1.5	L	0.85	T	-1.033	T	0.090	T	0.272	1.503	10.98	4.12	0.853	0.626	6.392	0.051	0.0209266334793	.	0.000399361	0.0001	0	0	0	0	4.52e-05	0	0.0009	0.0001229	19	154602	rs562709953	9.099e-05	9.235e-05	7.488e-05	0.0001	0.0010	7.824e-05	7.306e-05	0.0008	0.0007	2.987e-05	0	0	5.042e-05	0	0.0010	3.328e-05	8.28e-05	0.0010	6.567e-05	6.562e-05	7.71e-05	5.372e-05	0.0010	3.515e-05	2.615e-05	0.0004	0.0003	2.406e-05	0	0	0	0	0	0	5.881e-05	0	0.0010	0.133	0.26409	T	0.195	0.28032	T	0.585	0.38912	P	0.123	0.32463	B	0.257600	0.15380	N	0.691542	0.997	0.22861	N	1.645	0.42016	L	0.84	0.47477	T	-2.0	0.46146	N	0.13	0.12770	-1.0333	0.19395	T	0.090	0.34683	T	10	0.022723556	0.00575	T	0.020927	0.43616	T	0.051	0.14325	.	.	0.372268306217	0.36840	0.09408927095124495	0.09340	0.295400472236	0.31942	0.34853670001	0.17707	T	0.039425	0.25185	T	-0.470046	0.00849	T	-0.504313	0.21902	T	0.0562803819775581	0.06570	T	0.657134	0.26688	T	0.022411814	0.00902	0.06752873	0.13980	0.022411814	0.00902	0.06752873	0.13980	-10.155	0.74835	D	.	.	0.087	0.10979	B	.;.;.	.;.;.	1.315986	0.17197	13.02	0.90058717283373313	0.19345	0.16163	0.19260	N	AEFHCI	0.047229	0.07929	N	-0.434043917373202	0.24284	1.310149	-0.341054330720275	0.26787	1.481875	7.70530746582929E-4	0.07776	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.99	4.12	0.47504	0.834000	0.27171	0.105000	0.14702	-0.187000	0.09635	0.446000	0.26534	0.002000	0.18203	0.750000	0.35786	0.1458:0.7013:0.0:0.1528	6.392	0.20796	717	0.55835	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1210.98	37	chr1	42577087	.	C	T	1210.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.095e+00;DP=860;ExcessHet=0.0000;FS=1.458;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.26;ReadPosRankSum=-1.178e+00;SOR=0.849	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1205	20	0	1	0
chr1	42739934	42739934	C	G	exonic	CLDN19	.	nonsynonymous SNV	CLDN19:NM_001123395:exon1:c.G130C:p.V44L	Hypomagnesemia 5, renal, with ocular involvement, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.951	P	0.862	P	0.000	D	1.000	D	1.91	M	-2.49	D	0.514	D	0.748	D	0.724	4.313	22.6	4.77	2.182	3.334	15.307	0.583	0.101673351337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.855e-07	6.84e-07	1.364e-06	0	1.167e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.167e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.859	0.20607	T	0.33	0.19188	T	0.951	0.53992	P	0.862	0.61339	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.855	0.49169	L	-2.49	0.89145	D	-0.91	0.26200	N	0.705	0.77507	0.514	0.90749	D	0.748	0.91394	D	10	0.78729546	0.78356	D	0.101673	0.77470	D	0.583	0.83249	0.603	0.73466	0.873064784815	0.87182	0.6207257291094853	0.62005	0.953332268801	0.72727	0.72286093235	0.70463	T	0.429434	0.77824	T	0.214633	0.75268	D	0.0705296	0.74947	D	0.942222595214844	0.61621	D	0.862414	0.56549	D	0.28767112	0.51776	0.2388777	0.49221	0.28767112	0.51775	0.2388777	0.49220	-8.272	0.64647	D	0.16319364889277765	0.20093	0.913	0.83704	P	.;.;.	.;.;.	4.193362	0.63219	24.6	0.99659240372784363	0.77820	0.87857	0.47543	D	AEFDBCI	0.695490	0.65414	D	0.386355951995952	0.60681	4.259824	0.41141671176904	0.62274	4.440229	0.999999999999995	0.74766	0.72623	0.87236	0	0.547309	0.14657	0	0.594344	0.31042	0	0.613276	0.41899	0	.	.	4.77	4.77	0.60425	4.136000	0.57766	4.889000	0.45745	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.0:1.0:0.0:0.0	15.307	0.73706	507	0.75469	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	900.98	34	chr1	42739934	.	C	G	900.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.810e-01;DP=789;ExcessHet=0.0000;FS=5.195;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.39;ReadPosRankSum=1.72;SOR=0.791	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1197	20	0	1	0
chr1	43156285	43156285	G	A	exonic	FAM183A	.	stopgain	FAM183A:NM_001101376:exon4:c.G377A:p.W126X,	.	.	.	.	.	.	.	.	.	.	.	1325538	not_provided	MedGen:C3661900	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.001	N	0.980	D	.	.	.	.	.	.	.	.	.	1.153	9.695	4.07	2.568	2.512	12.070	.	.	0.0018	0.000399361	0.0009	0.0001	0.0003	0	0.0006	0.0013	0	0.0005	0.0009314	144	154602	rs149435229	0.0016	0.0016	0.0017	0.0016	0.0019	0.0016	0.0015	0.0019	0.0018	0.0002	0.0006	7.652e-05	0	0.0005	0.0003	0.0019	0.0014	0.0006	0.0012	0.0012	0.0014	0.0010	0.0024	0.0011	0.0010	0.0021	0.0020	0.0002	0	0.0002	0	0	0.0006	0	0.0024	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.40652	N	0.000000	0.980041	0.39625	D	.	.	.	.	.	.	.	.	.	0.089	0.07673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253972	0.78971	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;Low	7.648845	0.96726	36	0.97406878149552589	0.33805	0.84425	0.43507	D	AEFDGBI	0.038151	0.05356	N	0.604688180851144	0.73471	5.971443	0.395382275877115	0.61278	4.325893	0.824809765041219	0.24588	0.549168	0.22868	0	0.573888	0.26702	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	4.07	4.07	0.46726	2.644000	0.46279	4.214000	0.42550	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.015000	0.10482	0.0:0.0:1.0:0.0	12.070	0.52912	435	0.80441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1656.11	36	chr1	43156285	.	G	A	1656.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.33;DP=816;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=1.27;SOR=0.745	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1164	19	0	2	0
chr1	43172316	43172316	C	T	exonic	EBNA1BP2	.	nonsynonymous SNV	EBNA1BP2:NM_001159936:exon1:c.G106A:p.G36R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	D	0	N	0.65	T	-0.924	T	0.102	T	0.28	2.822	15.40	4.84	2.521	2.163	13.308	0.071	0.0514270359175	.	.	0.0005	0	0	0	0	0	0	0.0011	7.12e-05	11	154602	rs774160507	8.146e-05	8.277e-05	4.653e-05	0.0001	0.0014	6.894e-05	6.415e-05	0.0012	0.0011	0	0	0	0	0	0	0	1.724e-05	0.0014	1.314e-05	1.313e-05	0	2.691e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.977998	0.81001	N	.	.	.	0.65	0.52642	T	-0.55	0.16799	N	0.346	0.38746	-0.9240	0.44999	T	0.102	0.37568	T	7	0.050123423	0.04699	T	0.051427	0.64655	D	0.071	0.20720	0.212	0.13066	0.479818277033	0.47611	0.022877723156652704	0.02239	0.857533634355	0.68814	0.475037336349	0.35374	T	0.005004	0.04428	T	-0.275063	0.11199	T	-0.213437	0.53366	T	0.597415566444397	0.36298	D	0.512749	0.16428	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.33755	B	.	.	3.395933	0.47037	22.4	0.99485399441032596	0.67124	0.91687	0.54051	D	ALL	0.490789	0.52812	N	0.0484777847887462	0.44072	2.688029	0.126571559258989	0.45912	2.846138	1.0	0.98316	0.006267	0.00052	3	0.374146	0.05931	1	0.47417	0.07244	0	0.241949	0.04745	2	.	.	4.84	4.84	0.62125	2.247000	0.42803	7.266000	0.57975	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.691000	0.33868	0.0:1.0:0.0:0.0	13.308	0.59800	444	0.79803	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2375.98	38	chr1	43172316	.	C	T	2375.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.85;DP=925;ExcessHet=0.0000;FS=1.237;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.14;ReadPosRankSum=0.143;SOR=0.580	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1217	20	0	1	0
chr1	43185227	43185227	G	A	exonic	CFAP57	.	nonsynonymous SNV	CFAP57:NM_001167965:exon5:c.G840A:p.M280I	.	.	0	1521	1	0	0	1	0.000328623	.	.	2812723	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.19	T	0.006	B	0.002	B	0.421	N	1.000	N	0	N	3.5	T	-0.964	T	0.011	T	0.027	1.262	10.11	1.17	0.755	0.305	5.248	0.039	0.00683375803288	.	.	0.0002	0	0.0015	0.0001	0	0.0001	0.0011	0	0.0001746	27	154602	rs769471878	4.104e-05	4.104e-05	4.628e-05	3.575e-05	0.0008	3.244e-05	2.919e-05	0.0006	0.0005	0	0.0008	0	5.038e-05	0	0.0003	1.529e-05	8.279e-05	0	2.627e-05	2.625e-05	2.571e-05	2.685e-05	6.535e-05	8.14e-06	5.14e-06	7.98e-06	2.98e-06	4.814e-05	0	6.535e-05	0	0	0	0.0034	0	0	0	0.203	0.20154	T	0.255	0.23433	T	0.0	0.13644	B	0.0	0.06944	B	0.421087	0.04648	N	1.364740	1	0.08975	N	.	.	.	3.5	0.05014	T	-0.46	0.17210	N	0.197	0.21710	-0.9637	0.38468	T	0.011	0.04042	T	10	0.019804418	0.00447	T	0.006834	0.18065	T	0.039	0.10176	0.337	0.32654	0.0297737177859	0.01360	0.11311458852989056	0.11239	0.163571711338	0.18441	0.280321240425	0.07537	T	0.005398	0.06855	T	-0.654929	0.00068	T	-0.813237	0.01594	T	0.0102831104292406	0.00140	T	0.506949	0.16072	T	0.0915793	0.21462	0.10719651	0.25803	0.0915793	0.21462	0.10719651	0.25803	-2.392	0.06703	T	.	.	0.092	0.14842	B	.;.;.	.;.;.	0.455792	0.08254	4.999	0.61593403770410626	0.06748	0.11495	0.16672	N	AEFDBHI	0.110618	0.21929	N	-0.964873640266258	0.09361	0.4427431	-0.939209189276506	0.11174	0.567667	1.93403832707438E-4	0.05898	0.525926	0.21836	0	0.547309	0.14657	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	5.53	1.17	0.19998	0.414000	0.20885	0.645000	0.20357	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.081000	0.17303	0.0789:0.4779:0.2435:0.1997	5.248	0.14823	466	0.78352	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2082.98	36	chr1	43185227	.	G	A	2082.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.380e-01;DP=897;ExcessHet=0.0000;FS=4.348;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-1.651e+00;SOR=0.572	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1247	20	0	1	0
chr1	43185314	43185314	G	C	exonic	CFAP57	.	nonsynonymous SNV	CFAP57:NM_001167965:exon5:c.G927C:p.K309N	.	.	0	1516	6	0	0	6	0.00197498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.982	D	0.823	P	0.000	D	1.000	D	2.34	M	5.04	T	-1.050	T	0.055	T	0.237	3.867	19.65	4.6	1.442	3.617	15.114	0.092	0.0177960026669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.57480	T	0.085	0.62352	T	0.417	0.60036	B	0.146	0.59197	B	0.000015	0.62929	D	0.148658	0.932166	0.37013	D	.	.	.	5.04	0.07599	T	-3.32	0.67477	D	0.683	0.68950	-1.0499	0.14425	T	0.055	0.23148	T	10	0.60044765	0.66882	D	0.017796	0.39638	T	0.092	0.26621	0.414	0.45216	0.351830644314	0.34792	0.6133956691143212	0.61271	0.664706078156	0.59099	0.598727047443	0.52724	T	0.077114	0.37094	T	-0.186018	0.22845	T	-0.504979	0.21832	T	0.93964421749115	0.61128	D	0.908809	0.67676	D	0.3125587	0.54006	0.26802853	0.52667	0.3125587	0.54006	0.26802853	0.52666	-11.843	0.84077	D	.	.	0.654	0.72947	P	.;.;.	.;.;.	3.399237	0.47096	22.4	0.99865674415632377	0.94366	0.95377	0.64482	D	AEFBHI	0.582708	0.58222	D	0.30707194666685	0.56512	3.815917	0.33800274504075	0.57789	3.945942	0.0218598585358394	0.13384	0.533608	0.22052	0	0.547309	0.14657	0	0.685742	0.62368	0	0.620846	0.47308	0	.	.	5.53	4.6	0.56512	3.684000	0.54403	7.517000	0.59705	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0694:0.0:0.9306:0.0	15.114	0.72066	467	0.78285	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1262.98	36	chr1	43185314	.	G	C	1262.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.300;DP=828;ExcessHet=0.0000;FS=0.776;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=-1.750e-01;SOR=0.582	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1247	20	0	1	0
chr1	43206915	43206915	G	A	exonic	CFAP57	.	nonsynonymous SNV	CFAP57:NM_001167965:exon10:c.G1738A:p.E580K	.	.	1	1519	1	1	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.325	B	0.315	B	0.000	D	1.000	D	2.865	M	3.58	T	-0.764	T	0.206	T	0.899	3.943	20.2	4.95	2.737	8.930	18.732	0.382	0.0656346457854	.	.	0.0001	0	8.654e-05	0	0	0.0002	0.0011	0.0001	0.00011	17	154602	rs756958967	0.0002	0.0002	0.0002	0.0002	0.0018	0.0002	0.0002	0.0010	0.0007	8.963e-05	6.708e-05	0.0023	0	0	0.0018	0.0002	0.0003	6.957e-05	9.857e-05	9.85e-05	5.139e-05	0.0001	0.0002	6.007e-05	4.88e-05	2.847e-05	1.858e-05	0	0	6.543e-05	0.0020	0	0	0	7.35e-05	0.0005	0.0002	0.01	0.59928	D	0.007	0.70582	D	0.036	0.33132	B	0.079	0.41566	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	.	.	.	1.03	0.40469	T	-3.32	0.68178	D	0.766	0.88577	-0.7642	0.57176	T	0.206	0.56403	T	10	0.21003342	0.37385	T	0.065635	0.69637	D	0.382	0.69946	0.571	0.69431	0.237489013734	0.23353	0.650776894286351	0.65013	0.386898477928	0.39976	0.700690150261	0.67242	T	0.197246	0.57760	T	0.055588	0.59058	T	0.0903808	0.76271	D	0.539851188659668	0.34098	D	0.956904	0.87125	D	0.6607886	0.75941	0.5324247	0.72982	0.6607886	0.75942	0.5324247	0.72982	-14.262	0.93876	D	.	.	0.929	0.86555	P	.;.;.	.;.;.	4.522052	0.70910	25.6	0.9980217530106783	0.88728	0.64962	0.32579	D	ALL	0.928609	0.91307	D	0.370015563534385	0.59804	4.162945	0.454539350582464	0.65010	4.769799	1.0	0.98316	0.493124	0.18060	0	0.587265	0.34161	0	0.687007	0.62461	0	0.56214	0.19341	0	.	.	4.95	4.95	0.64894	9.007000	0.93130	11.842000	0.97836	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:1.0:0.0	18.732	0.91703	460	0.78750	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	875.98	39	chr1	43206915	.	G	A	875.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=786;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=-1.240e+00;SOR=0.742	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1405	20	0	1	0
chr1	43222837	43222837	-	CAC	exonic	CFAP57	.	nonframeshift insertion	CFAP57:NM_001195831:exon16:c.2546_2547insCAC:p.V849_R850insT	.	.	2	1507	12	1	0	14	0.00462351	.	.	3197253	CFAP57-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00638978	0.0160	0.0016	0.0055	0.0047	0	0	0	0.0431	0.0003842	10	26028	rs549638533	0.0022	0.0021	0.0015	0.0028	0.0248	0.0021	0.0021	0.0239	0.0235	0.0002	0.0005	0	0.0030	2.084e-05	0.0039	0.0007	0.0029	0.0248	0.0013	0.0013	0.0008	0.0019	0.0237	0.0012	0.0011	0.0202	0.0189	0.0003	0	0.0003	0	0.0056	0	0.0102	0.0006	0.0005	0.0237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	621.94	35	chr1	43222837	.	T	TCAC	621.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.920e-01;DP=703;ExcessHet=0.0000;FS=7.067;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.21;ReadPosRankSum=1.21;SOR=0.105	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1100	20	0	1	0
chr1	43226992	43226992	A	G	exonic	CFAP57	.	nonsynonymous SNV	CFAP57:NM_001195831:exon18:c.A2875G:p.I959V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	.	.	.	.	.	.	1.000	D	.	.	3.71	T	-1.056	T	0.025	T	0.19	2.505	14.34	5.41	2.052	5.125	11.386	0.066	0.00671770417273	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1363162407	1.026e-05	9.577e-06	7.215e-06	1.341e-05	0.0002	5.95e-06	4.66e-06	5.54e-06	4.05e-06	0	0	0	0	0	0.0002	1.033e-05	0	2.762e-05	6.569e-06	6.567e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.028	0.46129	D	0.101	0.38596	T	.	.	.	.	.	.	.	.	.	.	0.689929	0.33316	D	.	.	.	3.71	0.04046	T	-0.82	0.22508	N	0.124	0.16308	-1.0562	0.12724	T	0.025	0.10821	T	6	0.152028	0.28724	T	0.006718	0.17756	T	0.066	0.19193	0.392	0.41606	0.134241683229	0.13084	0.10957760849626556	0.10886	.	.	0.616982936859	0.55302	T	0.06198	0.35287	T	-0.234449	0.16064	T	-0.533826	0.18906	T	0.504824221134186	0.32806	D	0.80372	0.45098	T	0.13327476	0.31005	0.13503626	0.32343	0.13327476	0.31005	0.13503626	0.32342	-10.491	0.76796	D	.	.	0.359	0.57180	A	.;.	.;.	4.435679	0.68827	25.3	0.99703769775017481	0.80798	0.92450	0.55740	D	AEFGBCI	0.386904	0.46709	N	0.321123376008462	0.57233	3.889993	0.402599798097843	0.61726	4.37692	0.999991114397498	0.74766	0.656854	0.48797	0	0.69481	0.67340	0	0.491513	0.07944	0	0.638833	0.57524	0	.	.	5.41	5.41	0.78313	5.202000	0.65004	11.263000	0.91145	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.9272:0.0:0.0728:0.0	11.386	0.49026	453	0.79178	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	629.98	33	chr1	43226992	.	A	G	629.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.298e+00;DP=726;ExcessHet=0.0000;FS=1.242;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=0.054;SOR=0.487	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1179	20	0	1	0
chr1	43427063	43427063	G	A	exonic	SZT2	.	nonsynonymous SNV	SZT2:NM_015284:exon23:c.G3146A:p.G1049D	Epileptic encephalopathy, early infantile, 18, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2858119	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.74	T	0.02	B	0.023	B	0.386	N	1.000	N	1.1	L	.	.	-1.009	T	0.058	T	0.327	0.436	6.367	0.514	-0.004	-0.024	3.320	0.089	0.00474957662942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.052	0.47581	T	0.02	0.18235	B	0.023	0.19966	B	0.386328	0.13318	N	0.710219	1	0.08975	N	0.205	0.09354	N	.	.	.	0.25	0.04456	N	0.453	0.49055	-1.0090	0.27230	T	0.058	0.24502	T	9	0.1132727	0.21274	T	0.00475	0.11847	T	.	.	0.267	0.21418	0.0806252709748	0.07271	0.4510180691671138	0.45019	1.05101900575	0.76142	0.290060341358	0.08931	T	0.016715	0.13762	T	-0.120713	0.33007	T	-0.411172	0.32090	T	0.0833896815947722	0.10415	T	0.526147	0.17328	T	0.039175786	0.05359	0.06174293	0.11972	0.039175786	0.05359	0.06174293	0.11971	-3.469	0.18074	T	0.13821983871004878	0.15274	0.089	0.12371	B	.;.	.;.	1.186803	0.15778	12.10	0.85010614056869593	0.15631	0.07806	0.13802	N	AEFBI	0.044370	0.07131	N	-0.964678824252456	0.09366	0.4429646	-0.978313347079297	0.10273	0.516332	0.604620756832126	0.21755	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.8	0.514	0.16206	0.242000	0.17862	1.063000	0.23738	0.676000	0.76740	0.065000	0.21925	0.006000	0.19429	0.987000	0.62547	0.0939:0.1459:0.4622:0.2979	3.320	0.06634	766	0.49742	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2473.98	35	chr1	43427063	.	G	A	2473.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.313;DP=949;ExcessHet=0.0000;FS=3.204;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=0.299;SOR=0.484	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr1	43441554	43441554	T	C	exonic	SZT2	.	nonsynonymous SNV	SZT2:NM_015284:exon53:c.T7391C:p.V2464A	Epileptic encephalopathy, early infantile, 18, Autosomal recessive	.	417	1087	17	1	0	19	0.00866393	.	.	237176	SZT2-related_disorder|not_provided|Inborn_genetic_diseases|Developmental_and_epileptic_encephalopathy,_18	.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014201,MedGen:C3809624,OMIM:615476,Orphanet:369894	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.4	B	0.121	B	0.012	N	1.000	N	1.04	L	.	.	-1.009	T	0.061	T	0.255	2.501	14.32	4.42	2.141	5.154	13.992	0.034	0.00470960270413	0.0039	0.000798722	0.0053	0.0011	0.0019	0	0.0005	0.0086	0.0044	0.0015	0.0052587	813	154602	rs150113647	0.0045	0.0045	0.0046	0.0044	0.0053	0.0044	0.0043	0.0052	0.0051	0.0008	0.0028	0.0018	0	0.0011	0.0047	0.0053	0.0040	0.0013	0.0033	0.0033	0.0035	0.0031	0.0059	0.0031	0.0030	0.0054	0.0052	0.0010	0	0.0026	0.0012	0	0.0006	0.0068	0.0059	0.0024	0.0008	0.033	0.44358	D	0.008	0.67890	D	0.4	0.34852	B	0.121	0.32300	B	0.012492	0.29156	N	0.334680	0.999999	0.08975	N	1.67	0.42885	L	.	.	.	-1.83	0.42957	N	0.706	0.70966	-1.0086	0.27354	T	0.061	0.25383	T	9	0.009698093	0.00218	T	0.00471	0.11722	T	.	.	.	.	0.501874446873	0.49824	0.5733369692536592	0.57262	0.525076752411	0.50180	0.432314991951	0.29525	T	0.113489	0.43057	T	-0.399741	0.02324	T	-0.340438	0.40294	T	0.00609547073741499	0.00067	T	0.518148	0.16784	T	0.03678032	0.04591	0.093024164	0.21952	0.039399084	0.05433	0.08782407	0.20439	-3.095	0.11239	T	0.2323983399921941	0.31454	0.176	0.38534	B	.;.	.;.	3.281105	0.44954	22.0	0.99446806567216017	0.65071	0.92859	0.56721	D	AEFDGBCI	0.317305	0.42134	N	0.100715217444389	0.46496	2.889063	0.233314450735381	0.51704	3.350794	0.788456764300544	0.23972	0.67177	0.52595	0	0.702456	0.74545	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	5.61	4.42	0.52775	4.090000	0.57417	4.280000	0.42877	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0:0.0:0.1343:0.8657	13.992	0.63886	782	0.47442	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	3364.11	36	chr1	43441554	.	T	C	3364.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.450e-01;DP=998;ExcessHet=0.1072;FS=2.903;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=2.07;SOR=0.901	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	19	0	2	0
chr1	43453702	43453702	C	A	exonic	HYI	.	nonsynonymous SNV	HYI:NM_001190880:exon1:c.G92T:p.G31V	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	4.04	H	-2.3	D	1.017	D	0.865	D	0.558	4.940	28.7	4.15	2.132	6.722	16.191	0.795	0.990667733111	.	.	.	.	.	.	.	.	.	.	.	.	.	rs867585712	6.302e-06	1.368e-05	9.291e-06	3.207e-06	7.77e-06	2.71e-06	1.96e-06	3.34e-06	2.42e-06	0	0	0	0	0	0	7.77e-06	0	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.944e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.944e-05	0	0	0.001	0.91255	D	0.002	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.055	0.97073	H	-2.3	0.87671	D	-7.5	0.95924	D	0.883	0.88909	1.017	0.97480	D	0.865	0.95523	D	10	0.9854074	0.98792	D	0.990668	0.99966	D	0.795	0.93266	0.84	0.94602	0.946775840785	0.94621	0.9350150667510959	0.93481	0.386260784753	0.39917	0.862591922283	0.91494	D	0.595993	0.87781	D	0.191414	0.73094	D	0.0371765	0.72744	D	0.999168992042542	0.96394	D	0.983202	0.94289	D	0.9182377	0.93077	0.89609385	0.94699	0.9182377	0.93078	0.89609385	0.94699	-13.641	0.91832	D	.	.	0.745	0.74837	P	.;.;.;.;.	.;.;.;.;.	5.106593	0.85353	28.6	0.99656988494321619	0.77694	0.95835	0.66357	D	ALL	0.850884	0.76773	D	0.792359494050564	0.85623	8.632225	0.639045457352703	0.77797	6.749167	1.0	0.98316	0.441713	0.08003	0	0.484254	0.07192	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	4.15	4.15	0.47978	4.883000	0.62820	6.986000	0.57144	0.462000	0.21616	1.000000	0.71638	1.000000	0.68203	0.564000	0.30507	0.0:1.0:0.0:0.0	16.191	0.81806	798	0.45050	Xylose isomerase-like, TIM barrel domain;Xylose isomerase-like, TIM barrel domain;Xylose isomerase-like, TIM barrel domain;.;Xylose isomerase-like, TIM barrel domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	374.98	36	chr1	43453702	.	C	A	374.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.156;DP=757;ExcessHet=0.0000;FS=2.795;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.37;ReadPosRankSum=-1.007e+00;SOR=0.695	GT:AD:DP:GQ:PL	0/1:22,18:40:99:389,0,491	20	0	1	0
chr1	43930190	43930190	G	A	exonic	ST3GAL3	.	nonsynonymous SNV	ST3GAL3:NM_001270462:exon8:c.G662A:p.R221H	Epileptic encephalopathy, early infantile, 15, Autosomal recessive;Mental retardation, autosomal recessive 12, Autosomal recessive	.	1	1519	2	0	0	2	0.000657895	.	.	206817	Inborn_genetic_diseases|not_specified|Early_infantile_epileptic_encephalopathy_with_suppression_bursts	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350,Orphanet:1934	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.009	B	0.012	B	0.028	N	1.000	N	.	.	1.56	T	-0.935	T	0.142	T	0.236	1.246	10.06	-2.07	-0.231	-0.055	11.032	0.021	0.0211494722741	.	0.000199681	8.238e-06	0	0	0	0	0	0	6.056e-05	1.29e-05	2	154602	rs572958701	3.01e-05	3.01e-05	2.042e-05	3.988e-05	0.0004	2.282e-05	2.032e-05	0.0002	0.0001	2.987e-05	2.236e-05	7.652e-05	2.519e-05	0	0.0004	1.169e-05	4.969e-05	0.0002	1.313e-05	1.312e-05	1.284e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	9.416e-05	0	0	0	0.0002	0.155	0.32769	T	0.069	0.50514	T	0.006	0.15093	B	0.003	0.16012	B	0.028253	0.25631	N	0.415063	1	0.20249	N	.	.	.	1.56	0.65006	T	-0.74	0.20791	N	0.232	0.26111	-0.9352	0.43364	T	0.142	0.46294	T	9	0.056435257	0.06326	T	0.021149	0.43873	T	0.021	0.04004	0.62	0.75461	0.652461687722	0.64956	.	.	0.719543112965	0.62140	0.226073414087	0.01690	T	0.097858	0.40111	T	-0.278459	0.10831	T	-0.43511	0.29355	T	0.289073288440704	0.24551	T	0.775622	0.56644	T	0.01991817	0.00534	0.026841143	0.00797	0.01991817	0.00534	0.026841143	0.00796	-4.215	0.32347	T	0.17744362050500495	0.22694	0.079	0.26042	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.039193	0.14197	10.77	0.96700769070920733	0.30773	0.03873	0.09239	N	AEFGBCIJ	0.069104	0.13663	N	-0.937332622458763	0.09978	0.474737	-0.965098834218254	0.10575	0.5334674	0.999938417842289	0.46732	0.743674	0.98306	0	0.630245	0.54622	0	0.779548	0.98927	0	0.584449	0.35598	0	.	.	4.5	-2.07	0.06873	0.040000	0.13791	-0.543000	0.08571	-0.895000	0.02364	0.000000	0.06391	0.000000	0.08366	0.647000	0.32611	0.4454:0.0:0.5546:0.0	11.032	0.46995	143	0.94301	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1539.98	38	chr1	43930190	.	G	A	1539.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.454e+00;DP=886;ExcessHet=0.0000;FS=1.587;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=-1.297e+00;SOR=0.896	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr1	43981907	43981907	G	A	exonic	B4GALT2	.	nonsynonymous SNV	B4GALT2:NM_001005417:exon3:c.G532A:p.V178I	.	.	431	1078	12	1	0	14	0.00645161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.075	B	0.022	B	0.002	N	0.518	D	-1.115	N	1.58	T	-0.940	T	0.013	T	0.066	-0.355	2.322	0.376	-0.182	2.631	8.600	0.076	0.00775481769483	0.0012	0.000798722	0.0016	0.0002	0.0009	0	0	0.0021	0.0034	0.0021	0.0014359	222	154602	rs150178452	0.0011	0.0011	0.0010	0.0012	0.0108	0.0010	0.0010	0.0086	0.0078	0.0002	0.0006	0.0237	5.038e-05	0	0.0108	0.0005	0.0022	0.0023	0.0012	0.0012	0.0013	0.0011	0.0012	0.0010	0.0010	0.0005	0.0004	0.0001	0	0.0008	0.0297	0	0	0.0068	0.0006	0.0038	0.0012	1.0	0.00964	T	1.0	0.01155	T	0.004	0.24198	B	0.007	0.19653	B	0.001734	0.38161	N	0.251268	0.517672	0.31871	D	-1.525	0.00485	N	1.58	0.29085	T	0.3	0.04091	N	0.145	0.15469	-0.9398	0.42648	T	0.013	0.04938	T	10	0.0074171424	0.00169	T	0.007755	0.20563	T	0.076	0.22200	.	.	0.136095386433	0.13204	0.2370472748320877	0.23619	0.46716595594	0.46101	0.34984588623	0.17899	T	0.060162	0.31311	T	-0.620057	0.00110	T	-0.670229	0.07593	T	0.00534657164301127	0.00058	T	0.828317	0.49240	T	0.013614455	0.00064	0.026159883	0.00691	0.013614455	0.00064	0.026159883	0.00691	-3.027	0.10475	T	.	.	0.060	0.00876	B	.;.;.;.	.;.;.;.	1.254287	0.16513	12.59	0.88300444665666356	0.17869	0.39243	0.26169	N	AEFGBCI	0.155338	0.28051	N	-0.969587343093542	0.09257	0.4374238	-0.799800517589365	0.14500	0.7579473	0.999919170367408	0.45857	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.4	0.376	0.15424	2.632000	0.46177	1.116000	0.24201	0.654000	0.53741	1.000000	0.71638	0.061000	0.22037	0.880000	0.42090	0.6451:0.0:0.3549:0.0	8.600	0.32898	315	0.87208	Galactosyltransferase, N-terminal;.;Galactosyltransferase, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2081.98	39	chr1	43981907	.	G	A	2081.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.670e-01;DP=910;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.25;ReadPosRankSum=-1.403e+00;SOR=0.722	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr1	43995943	43995943	G	A	exonic	CCDC24	.	nonsynonymous SNV	CCDC24:NM_001349129:exon7:c.G305A:p.R102Q	.	.	420	1057	43	2	0	47	0.0217492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.003	B	0.001	B	0.320	N	1.000	N	-0.41	N	.	.	-1.056	T	0.029	T	0.087	1.405	10.63	-7.55	-1.530	-0.979	1.925	0.008	.	0.0005	0.00399361	0.0032	0.0004	0.0003	0.0003	0	0.0010	0.0088	0.0182	0.0027425	424	154602	rs142384645	0.0018	0.0018	0.0012	0.0024	0.0182	0.0017	0.0017	0.0175	0.0172	0.0004	0.0004	0.0010	0.0002	5.62e-05	0.0153	0.0007	0.0025	0.0182	0.0011	0.0011	0.0008	0.0014	0.0172	0.0010	0.0009	0.0142	0.0131	9.621e-05	0	0.0008	0.0023	0.0004	0	0.0204	0.0007	0.0033	0.0172	0.662	0.04671	T	0.429	0.13752	T	0.003	0.11197	B	0.001	0.04355	B	0.320142	0.04069	N	1.550060	1	0.08975	N	-1.1	0.00987	N	.	.	.	0.13	0.05503	N	0.032	0.00825	-1.0559	0.12803	T	0.029	0.12409	T	9	0.001950413	0.00027	T	.	.	.	0.008	0.00669	.	.	0.0954503805726	0.09146	0.07001160870663188	0.06938	0.0444665148545	0.04800	0.235512048006	0.02400	T	6.65E-4	0.00291	T	-0.773633	0.00012	T	-0.869767	0.00744	T	0.000264297947003674	0.00002	T	0.620638	0.23835	T	0.022738144	0.00958	0.025527406	0.00600	0.022738144	0.00958	0.025527406	0.00600	-3.716	0.19555	T	.	.	0.063	0.01555	B	.	.	-0.148397	0.03363	0.598	0.7658612605579761	0.11527	0.01631	0.05259	N	AEFBCI	0.083598	0.16937	N	-1.65262587755734	0.01024	0.04440356	-1.69864411206519	0.01143	0.05141937	0.999789365406696	0.43007	0.634777	0.41761	0	0.588015	0.36545	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	4.5	-7.55	0.01185	-1.475000	0.02441	-0.405000	0.09385	-0.196000	0.09079	0.000000	0.06391	0.000000	0.08366	0.124000	0.19330	0.1656:0.1152:0.4911:0.228	1.925	0.03114	318	0.87072	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1930.98	36	chr1	43995943	.	G	A	1930.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.520e-01;DP=853;ExcessHet=0.0000;FS=2.131;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=1.14;SOR=0.839	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1286	20	0	1	0
chr1	43997591	43997591	A	T	exonic	SLC6A9	.	nonsynonymous SNV	SLC6A9:NM_001328628:exon11:c.T1661A:p.I554N	Glycine encephalopathy with normal serum glycine, Autosomal recessive	.	401	1118	2	1	0	4	0.00178571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.062	B	0.048	B	0.410	N	1.000	N	0.69	N	-0.85	T	-0.904	T	0.218	T	0.214	1.474	10.87	3.78	0.878	1.292	7.453	0.080	0.0870378300563	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1306597378	6.842e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	1.315e-05	1.314e-05	1.285e-05	1.347e-05	1.471e-05	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	1.471e-05	0	0	0.032	0.65419	D	0.038	0.57587	D	0.062	0.23277	B	0.048	0.24975	B	0.409680	0.13014	N	0.761895	1	0.08975	N	1.24	0.30952	L	-0.85	0.75670	T	0.22	0.04694	N	0.177	0.27316	-0.9038	0.47583	T	0.218	0.58020	T	10	0.10644546	0.19726	T	0.087038	0.74857	D	0.080	0.23350	0.33	0.31519	0.744711915001	0.74241	0.4602598930216467	0.45943	0.394754680351	0.40628	0.293832093477	0.09484	T	0.09711	0.39961	T	-0.0835986	0.39128	T	-0.35786	0.38300	T	0.282210350036621	0.24264	T	0.885811	0.61165	D	0.18816648	0.40303	0.11700958	0.28247	0.18816648	0.40303	0.11700958	0.28246	-2.667	0.08064	T	.	.	0.103	0.27493	B	.;.;.;.	.;.;.;.	1.852995	0.23538	16.06	0.97696397990667749	0.35406	0.43564	0.27126	N	AEFDBCI	0.201626	0.32827	N	-0.505921160137167	0.21887	1.164886	-0.38643136716891	0.25401	1.396654	0.851838979376939	0.25059	0.634777	0.41761	0	0.588015	0.36545	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.92	3.78	0.42629	0.846000	0.27335	1.619000	0.27677	0.726000	0.85437	0.039000	0.20931	0.002000	0.18203	0.982000	0.59238	0.7823:0.0:0.2177:0.0	7.453	0.26419	318	0.87072	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	856.98	34	chr1	43997591	.	A	T	856.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.361e+00;DP=781;ExcessHet=0.0000;FS=1.063;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=-4.000e-01;SOR=0.964	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1176	20	0	1	0
chr1	44138745	44138745	G	T	exonic	KLF18	.	nonsynonymous SNV	KLF18:NM_001358438:exon1:c.C2887A:p.P963T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1413909882	2.03e-05	1.59e-05	3.292e-05	8.012e-06	0.0007	7.94e-06	4.32e-06	0.0001	4.803e-05	0	0	0	0	0	0	1.265e-05	6.109e-05	0.0007	2.628e-05	2.627e-05	2.569e-05	2.69e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.985e-05	0	0	6.545e-05	0	0	0	0	0	0	0.0006	.	.	.	0.047	0.48855	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.18103	.	.	.	.	.	.	.	0.08279228	0.13702	T	.	.	.	.	.	.	.	.	.	0.191906140595156	0.19108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49875	0.15541	T	0.044249713	0.07040	0.10886582	0.26231	0.044249713	0.07040	0.10886582	0.26231	-4.765	0.34180	T	.	.	0.518	0.65399	A	.	.	0.047161	0.04616	1.283	0.71542951334962157	0.09664	0.23433	0.22074	N	AEFBI	.	.	.	.	.	.	.	.	.	2.52628760875127E-6	0.01202	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0443366	0.03230	3.94	-1.75	0.07598	0.078000	0.14615	-0.348000	0.09765	0.618000	0.50648	0.140000	0.23505	0.000000	0.08366	0.025000	0.12405	0.3315:0.1606:0.3249:0.1829	0.559	0.00632	220	0.91454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1202.98	33	chr1	44138745	.	G	T	1202.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.705e+00;DP=807;ExcessHet=0.0000;FS=1.834;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=-1.760e+00;SOR=0.495	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr1	44139823	44139824	CG	-	exonic	KLF18	.	frameshift deletion	KLF18:NM_001358438:exon1:c.1808_1809del:p.T603Nfs*5,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4401.94	142	chr1	44139822	.	TCG	T	4401.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=6.22;DP=6429;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.24;MQRankSum=1.64;QD=9.96;ReadPosRankSum=-4.873e+00;SOR=0.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,99,1485	20	0	1	0
chr1	44139826	44139865	CACCTGCTCCCCACAAAGGGTCTGGTTACTAGTGGAGGTC	-	exonic	KLF18	.	frameshift deletion	KLF18:NM_001358438:exon1:c.1767_1806del:p.T590Rfs*14,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4154.94	142	chr1	44139825	.	TCACCTGCTCCCCACAAAGGGTCTGGTTACTAGTGGAGGTC	T	4154.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=6.85;DP=6497;ExcessHet=0.0000;FS=0.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.31;MQRankSum=3.65;QD=7.96;ReadPosRankSum=-5.389e+00;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,99,1485	20	0	1	0
chr1	44139887	44139887	G	T	exonic	KLF18	.	nonsynonymous SNV	KLF18:NM_001358438:exon1:c.C1745A:p.T582N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.545e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.298	0.20486	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.08366	.	.	.	.	.	.	.	0.13006252	0.24751	T	.	.	.	.	.	.	.	.	.	0.02449652202884905	0.02400	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346965	0.07635	T	0.027212223	0.01880	0.07506897	0.16489	0.027212223	0.01880	0.07506897	0.16489	-8.194	0.62385	D	.	.	0.064	0.01715	B	.	.	-0.041411	0.04006	0.913	0.67539890598987207	0.08385	0.20289	0.20985	N	AEFBI	.	.	.	.	.	.	.	.	.	2.25859919191036E-5	0.03498	0.053691	0.00478	0	0.060609	0.00678	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0443366	0.03230	2.34	1.42	0.21524	0.289000	0.18713	-4.436000	0.02157	-0.545000	0.04923	0.002000	0.15269	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.7648:0.2352	8.433	0.31932	222	0.91398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3045.98	142	chr1	44139887	.	G	T	3045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.63;DP=6379;ExcessHet=0.0000;FS=0.619;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.85;MQRankSum=4.93;QD=7.54;ReadPosRankSum=-5.701e+00;SOR=0.647	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,99,1485	20	0	1	0
chr1	44139897	44139897	T	C	exonic	KLF18	.	nonsynonymous SNV	KLF18:NM_001358438:exon1:c.A1735G:p.S579G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1334942530	8.677e-06	3.658e-05	8.837e-06	8.523e-06	0.0002	1.44e-06	5.4e-07	.	.	0.0002	0	0	0	0	0	6.789e-06	0	0	1.481e-05	0.0008	1.446e-05	1.518e-05	1.594e-05	2.46e-06	9.2e-07	.	.	0	0	0	0	0	0.0001	0	1.594e-05	0	0	.	.	.	0.423	0.13993	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00339	.	.	.	.	.	.	.	0.07668868	0.12010	T	.	.	.	.	.	.	.	.	.	0.015388456232058235	0.01494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267973	0.04452	T	0.041452024	0.06106	0.065019205	0.13116	0.041452024	0.06106	0.065019205	0.13116	-7.175	0.55302	T	.	.	0.072	0.04277	B	.	.	-1.223766	0.00508	0.011	0.13030476442963357	0.00244	0.00038	0.00324	N	AEFBI	.	.	.	.	.	.	.	.	.	2.13602005992968E-5	0.03498	0.053691	0.00478	0	0.060609	0.00678	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0443366	0.03230	2.34	-3.93	0.03868	-0.734000	0.04997	-11.043000	0.00641	-2.081000	0.00403	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.158:0.4856:0.0:0.3564	4.376	0.10704	222	0.91398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2079.98	142	chr1	44139897	.	T	C	2079.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.83;DP=6356;ExcessHet=0.0000;FS=2.208;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.82;MQRankSum=3.09;QD=5.46;ReadPosRankSum=-7.364e+00;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,99,1485	20	0	1	0
chr1	44704096	44704096	T	C	exonic	ARMH1	.	nonsynonymous SNV	ARMH1:NM_001145636:exon6:c.T647C:p.I216T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.302	B	0.085	B	0.156	N	1.000	N	0.695	N	0.85	T	-0.970	T	0.095	T	0.363	3.887	19.76	5.24	1.995	5.972	14.169	0.100	0.0148597894399	0.0007	.	0.0005	0.0005	0	0	0	0.0012	0	0	9.7e-05	15	154602	rs372170670	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	6.165e-05	4.501e-05	6.334e-05	8.405e-05	0.0054	0	0	0.0004	6.12e-05	0.0006	1.262e-05	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	7.923e-05	6.004e-05	4.856e-05	0	0	0.0061	0	0	0	0.0001	0	0	0.015	0.61437	D	0.018	0.66756	D	0.302	0.32608	B	0.085	0.29395	B	0.156354	0.17802	N	0.602490	0.999932	0.19363	N	.	.	.	0.85	0.47130	T	-1.68	0.40082	N	0.175	0.18784	-0.9703	0.37136	T	0.095	0.35924	T	10	0.009207785	0.00208	T	0.01486	0.35248	T	0.100	0.28662	.	.	0.110078149338	0.10416	0.19456755825760388	0.19374	.	.	.	.	.	0.043217	0.26430	T	-0.274224	0.11291	T	-0.395011	0.33966	T	0.049828688566822	0.05471	T	0.732227	0.34774	T	0.13492648	0.31332	0.13655627	0.32664	0.13492648	0.31331	0.13655627	0.32663	-7.129	0.54970	T	.	.	0.120	0.24901	B	.;.;.	.;.;.	2.861504	0.37813	20.6	0.98826753471081563	0.46886	0.97266	0.73678	D	AEFBI	0.631944	0.61274	D	-0.153631679218391	0.35080	2.010456	-0.057324448522878	0.37174	2.173098	0.999902894585159	0.45458	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.24	5.24	0.72863	6.269000	0.72536	4.130000	0.42025	0.660000	0.55035	0.940000	0.32642	0.778000	0.26755	0.004000	0.06068	0.0:0.0:0.0:1.0	14.169	0.65037	0	0.99858	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1390.98	43	chr1	44704096	.	T	C	1390.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.340e+00;DP=884;ExcessHet=0.0000;FS=0.760;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.77;ReadPosRankSum=0.622;SOR=0.638	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	20	0	1	0
chr1	44725320	44725320	A	G	exonic	ARMH1	.	nonsynonymous SNV	ARMH1:NM_001145636:exon12:c.A1240G:p.M414V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.0	B	0.001	B	.	.	1.000	N	0.205	N	.	.	-1.027	T	0.039	T	0.086	0.358	5.944	-2.29	-0.490	.	4.542	0.017	0.00120763897576	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1389933790	7.146e-07	6.84e-07	1.41e-06	0	2.801e-05	0	0	.	.	0	2.801e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.18498	T	0.599	0.07972	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.1	0.08495	N	0.084	0.06059	-1.0268	0.21494	T	0.039	0.16849	T	8	0.04245031	0.02996	T	0.001208	0.01583	T	0.017	0.02790	0.184	0.09259	0.0138822411134	0.00435	0.2387538778200221	0.23789	.	.	.	.	.	0.003106	0.02504	T	-0.390459	0.02671	T	-0.676099	0.07224	T	0.0374387205231251	0.03234	T	0.309269	0.05988	T	0.043217648	0.06695	0.06091758	0.11678	0.043217648	0.06695	0.06091758	0.11677	-2.733	0.07584	T	.	.	0.064	0.01715	B	.;.	.;.	-0.963196	0.00825	0.028	0.362476570275031	0.02321	0.02531	0.07042	N	AEFBI	0.037889	0.05280	N	-1.3552832583413	0.03071	0.1365891	-1.38049672478525	0.03460	0.1614469	0.998263240296901	0.36664	0.615465	0.37627	0	0.633656	0.55848	0	0.603688	0.36954	0	0.530356	0.10902	0	.	.	4.8	-2.29	0.06419	0.151000	0.16101	-0.028000	0.12833	-0.221000	0.07976	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3768:0.3241:0.299:0.0	4.542	0.11460	0	0.99858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1749.98	33	chr1	44725320	.	A	G	1749.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.670e-01;DP=848;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=-1.200e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:76,76:152:99:1764,0,1773	20	0	1	0
chr1	44826904	44826904	C	T	exonic	PTCH2	.	nonsynonymous SNV	PTCH2:NM_001166292:exon17:c.G2693A:p.R898H	Basal cell carcinoma, somatic;Basal cell nevus syndrome, Autosomal dominant;Medulloblastoma, somatic	.	.	.	.	.	.	.	.	0.0002	0.004	516016	Gorlin_syndrome|PTCH2-related_disorder	MONDO:MONDO:0007187,MedGen:C0004779,OMIM:PS109400,Orphanet:377|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.22	T	0.011	B	0.013	B	0.025	N	1.000	D	1.04	L	-3.1	D	-0.258	T	0.564	D	0.289	2.054	12.83	2.23	0.674	2.570	8.761	0.194	0.0652558148137	0.0012	0.000798722	0.0003	0.0029	0.0002	0	0	0	0	6.058e-05	0.0002393	37	154602	rs143534131	7.868e-05	7.867e-05	9.666e-05	6.051e-05	0.0027	6.667e-05	6.202e-05	0.0023	0.0021	0.0027	0.0002	0	0	0	0	4.496e-06	0.0001	3.478e-05	0.0009	0.0009	0.0010	0.0008	0.0033	0.0008	0.0007	0.0028	0.0026	0.0033	0	0.0001	0	0	0	0	2.941e-05	0	0	0.091	0.31987	T	0.104	0.38891	T	0.011	0.15914	B	0.013	0.16460	B	0.025302	0.26110	N	0.264439	0.999692	0.48338	D	1.285	0.32305	L	-3.1	0.92667	D	-2.17	0.49018	N	0.363	0.40465	-0.2576	0.76153	T	0.564	0.84175	D	10	0.01235643	0.00266	T	0.065256	0.69523	D	0.194	0.47447	.	.	0.848878490092	0.84743	0.6723818984379047	0.67176	0.213542894143	0.23869	0.579256474972	0.49980	T	0.611031	0.87673	D	-0.27757	0.10928	T	-0.172007	0.57259	T	0.0178883055406645	0.00516	T	0.810219	0.46129	T	0.060495667	0.12420	0.060773753	0.11629	0.052250538	0.09718	0.06915991	0.14537	-7.126	0.54948	T	.	.	0.070	0.03515	B	.;.	.;.	3.187342	0.43288	21.7	0.9900408939313553	0.50210	0.87767	0.47419	D	ALL	0.533430	0.55288	D	-0.345863493484104	0.27425	1.504522	-0.220094816299133	0.30815	1.738402	0.999999998993696	0.74766	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.677038	0.66255	0	.	.	4.16	2.23	0.27189	2.600000	0.45904	0.773000	0.21413	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.997000	0.79791	0.1508:0.7675:0.0:0.0817	8.761	0.33835	476	0.77720	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1752.98	43	chr1	44826904	.	C	T	1752.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.346;DP=927;ExcessHet=0.0000;FS=1.185;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.68;ReadPosRankSum=-1.704e+00;SOR=0.834	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr1	45004649	45004649	C	T	exonic	HECTD3	.	nonsynonymous SNV	HECTD3:NM_024602:exon16:c.G2093A:p.R698H,	.	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.019	B	0.005	B	0.000	D	0.881	D	0.385	N	0.36	T	-1.001	T	0.082	T	0.178	3.297	17.08	4.37	1.455	3.814	5.899	0.094	0.0111500303862	.	0.000199681	0.0004	0	0	0	0	1.498e-05	0	0.0028	0.0003234	50	154602	rs569133161	0.0002	0.0002	9.937e-05	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	5.974e-05	2.236e-05	0	0	0	0	2.068e-05	4.967e-05	0.0027	9.193e-05	9.186e-05	2.57e-05	0.0002	0.0023	5.524e-05	4.362e-05	0.0013	0.0010	0	0	6.534e-05	0	0	0	0	2.94e-05	0	0.0023	0.063	0.40832	T	0.128	0.34959	T	0.019	0.17989	B	0.003	0.11217	B	0.000050	0.53742	D	0.157919	0.881161	0.35754	D	0.75	0.19020	N	0.36	0.57880	T	-0.85	0.23156	N	0.386	0.42737	-1.0007	0.29717	T	0.082	0.32266	T	10	0.02718839	0.00869	T	0.01115	0.28477	T	0.094	0.27141	.	.	0.565829876908	0.56246	0.47747057384699326	0.47667	0.574900128254	0.53506	0.467984974384	0.34403	T	0.044201	0.26742	T	-0.446009	0.01192	T	-0.418985	0.31191	T	0.0447355173509131	0.04553	T	0.963204	0.88468	D	0.044747934	0.07206	0.046737257	0.06580	0.044747934	0.07206	0.046737257	0.06580	-4.81	0.39854	T	.	.	0.066	0.02670	B	.;.	.;.	3.977961	0.58453	24.0	0.99819453743191944	0.90238	0.82664	0.41861	D	AEFDBI	0.266359	0.38329	N	-0.18846380380078	0.33614	1.909029	0.001313075688796	0.39777	2.363624	0.190052159270769	0.17988	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.28	4.37	0.51830	3.935000	0.56272	1.813000	0.28978	0.589000	0.31548	1.000000	0.71638	0.998000	0.33993	0.997000	0.79791	0.0:0.6886:0.0:0.3114	5.899	0.18198	725	0.54935	.;HECT domain|HECT domain|HECT domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1721.98	34	chr1	45004649	.	C	T	1721.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=856;ExcessHet=0.0000;FS=0.636;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=-2.230e-01;SOR=0.778	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr1	45035731	45035731	G	A	exonic	ZSWIM5	.	nonsynonymous SNV	ZSWIM5:NM_020883:exon10:c.C2248T:p.H750Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.165	B	0.051	B	0.000	N	1.000	D	1.565	L	0.96	T	-1.046	T	0.097	T	0.381	2.602	14.66	4.2	1.492	5.743	14.142	0.088	0.0100839407019	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1159986867	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.14743	T	0.5	0.11190	T	0.165	0.28508	B	0.051	0.25434	B	0.000000	0.84330	N	0.044204	0.999998	0.58761	D	0.625	0.15840	N	0.96	0.42888	T	-2.33	0.51646	N	0.384	0.42541	-1.0465	0.15389	T	0.097	0.36393	T	10	0.20531732	0.36754	T	0.010084	0.26191	T	0.088	0.25558	.	.	0.541423279807	0.53795	0.5511408159056991	0.55040	0.466874323451	0.46080	0.780664205551	0.79028	T	0.043256	0.26443	T	-0.114483	0.34028	T	-0.402224	0.33126	T	0.889321148395538	0.54002	D	0.865913	0.56597	D	0.2971919	0.52651	0.2606345	0.51830	0.2971919	0.52651	0.2606345	0.51829	-3.886	0.22092	T	.	.	0.098	0.16451	B	.	.	3.480071	0.48587	22.6	0.98017980131604632	0.37612	0.95808	0.66241	D	ALL	0.672178	0.63867	D	0.00030851339820262	0.41870	2.512203	0.140157994395979	0.46623	2.905313	0.999999999999999	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.11	4.2	0.48814	5.906000	0.69639	8.667000	0.77995	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0732:0.0:0.9268:0.0	14.142	0.64861	685	0.59416	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	954.33	35	chr1	45035731	.	G	A	954.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.488e+00;DP=725;ExcessHet=0.0000;FS=0.933;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=0.038;SOR=0.859	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1268	19	0	1	1
chr1	45088040	45088040	G	A	exonic	ZSWIM5	.	nonsynonymous SNV	ZSWIM5:NM_020883:exon2:c.C793T:p.R265C,	.	.	432	1079	10	1	0	12	0.00552995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.969	D	0.000	D	1.000	D	2.78	M	0.64	T	-0.301	T	0.271	T	0.972	5.049	29.9	4.61	2.503	9.813	18.335	0.598	0.0767974187746	0.0041	0.00239617	0.0027	0.0008	0.0029	0	0.0008	0.0038	0.0033	0.0014	0.0028266	437	154602	rs116809634	0.0043	0.0043	0.0044	0.0042	0.0087	0.0042	0.0042	0.0068	0.0061	0.0008	0.0030	0.0021	2.519e-05	0.0004	0.0087	0.0050	0.0047	0.0011	0.0032	0.0032	0.0035	0.0029	0.0052	0.0030	0.0029	0.0048	0.0046	0.0012	0	0.0040	0.0014	0	0.0007	0.0068	0.0052	0.0033	0.0002	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.885	0.83555	M	0.64	0.52867	T	-5.87	0.88630	D	0.89	0.88909	-0.3013	0.74949	T	0.271	0.64277	T	10	0.03297335	0.01461	T	0.076797	0.72618	D	0.598	0.84074	.	.	0.858212518775	0.85684	0.7835790356711932	0.78308	0.550900486598	0.51946	0.836088776588	0.87498	D	0.572703	0.85878	D	-0.00590948	0.50838	T	0.220654	0.84205	D	0.0301943757762457	0.02019	T	0.956004	0.83260	D	0.6396926	0.74814	0.48607525	0.70255	0.6396926	0.74815	0.48607525	0.70255	-10.288	0.75618	D	.	.	0.681	0.72201	P	.	.	5.622251	0.92614	32	0.99934805239166158	0.99579	0.99230	0.93150	D	AEFBI	0.946912	0.95689	D	0.902704048203018	0.91890	11.11985	0.839654726346057	0.92398	11.40319	0.999999700124564	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.61	4.61	0.56724	10.003000	0.99689	8.605000	0.77744	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.335	0.90227	407	0.82314	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3796.11	33	chr1	45088040	.	G	A	3796.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.76;DP=984;ExcessHet=0.1072;FS=1.340;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.25;ReadPosRankSum=2.01;SOR=0.775	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1184	19	0	2	0
chr1	45457692	45457692	C	T	exonic	TESK2	.	nonsynonymous SNV	TESK2:NM_007170:exon2:c.G94A:p.V32M,	.	.	428	1088	6	0	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.119	B	0.063	B	0.641	N	1.000	N	0.345	N	2.46	T	-0.931	T	0.177	T	0.084	0.403	6.187	-7.33	-1.739	-0.638	11.904	0.037	0.0239106135479	0.0025	0.00219649	0.0039	0.0012	0.0031	0	0.0014	0.0047	0.0022	0.0059	0.0037063	573	154602	rs139535559	0.0040	0.0040	0.0040	0.0041	0.0063	0.0040	0.0039	0.0059	0.0057	0.0005	0.0021	0.0069	2.519e-05	0.0013	0.0029	0.0043	0.0036	0.0063	0.0027	0.0027	0.0028	0.0026	0.0072	0.0025	0.0024	0.0054	0.0047	0.0008	0.0011	0.0016	0.0049	0	0.0005	0.0034	0.0042	0.0033	0.0072	0.242	0.18691	T	0.156	0.31833	T	0.007	0.14184	B	0.011	0.15521	B	0.641495	0.05871	N	1.180580	1	0.08975	N	0	0.06538	N	-0.76	0.73417	T	-0.14	0.09135	N	0.113	0.12913	-0.9314	0.43933	T	0.177	0.52256	T	10	0.0035657287	0.00064	T	0.023911	0.46889	T	0.037	0.09474	.	.	0.401185642668	0.39728	0.2119062408482869	0.21106	0.199440583256	0.22341	0.291976153851	0.09211	T	0.009183	0.08373	T	-0.545465	0.00310	T	-0.553687	0.16974	T	0.00435145716154146	0.00046	T	0.658334	0.26756	T	0.02780432	0.02024	0.058193475	0.10713	0.02780432	0.02024	0.058193475	0.10712	-4.992	0.36753	T	.	.	0.089	0.12276	B	.;.	.;.	-0.002648	0.04265	1.060	0.90670885882896302	0.19922	0.01462	0.04886	N	AEFI	0.047805	0.08090	N	-1.55302367145856	0.01517	0.06624543	-1.63442238318577	0.01458	0.06597184	0.0181758768570301	0.13029	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.06	-7.33	0.01284	-0.403000	0.07275	-2.453000	0.03735	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.458000	0.28074	0.0:0.606:0.0906:0.3035	11.904	0.51982	153	0.93993	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3678.11	39	chr1	45457692	.	C	T	3678.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-9.900e-01;DP=986;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=0.203;SOR=0.696	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,101,1135	19	0	2	0
chr1	45495492	45495492	A	G	exonic	CCDC163	.	nonsynonymous SNV	CCDC163:NM_001358407:exon4:c.T316C:p.C106R,	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0	0	0.0005	2.59e-05	4	154602	rs752727355	4.54e-05	3.976e-05	4.356e-05	4.697e-05	0.0003	3.115e-05	2.632e-05	0.0002	0.0002	0	0	0	0	0	0.0002	1.894e-05	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1616.98	33	chr1	45495492	.	A	G	1616.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.210e-01;DP=896;ExcessHet=0.0000;FS=1.932;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.35;ReadPosRankSum=-6.500e-02;SOR=0.874	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1384	20	0	1	0
chr1	45499580	45499580	C	A	exonic	CCDC163	.	nonsynonymous SNV	CCDC163:NM_001102601:exon1:c.G30T:p.Q10H	.	.	424	1094	4	0	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.01	B	0.016	B	.	.	1.000	N	.	.	.	.	-1.023	T	0.069	T	0.068	1.742	11.79	1.24	0.073	0.401	8.668	0.035	0.00497468085921	.	.	.	.	.	.	.	.	.	.	.	.	.	rs756488005	6.404e-06	9.542e-06	7.027e-06	5.883e-06	0.0002	1.5e-06	1.01e-06	2.29e-06	6.4e-07	0	0	0	0	0	0.0002	8.615e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	0.05920	T	.	.	.	.	.	.	.	.	.	.	0.999903	0.19694	N	.	.	.	.	.	.	.	.	.	0.22	0.24634	-1.0230	0.22736	T	0.069	0.28313	T	7	0.11895102	0.22500	T	0.004975	0.12535	T	.	.	0.217	0.13788	0.171388866994	0.16791	0.09553565647196068	0.09485	.	.	.	.	.	.	.	.	-0.137641	0.30267	T	-0.435488	0.29314	T	0.509228587150574	0.32968	D	0.423058	0.11286	T	0.035792988	0.04279	0.08966557	0.20981	0.035792988	0.04279	0.08966557	0.20980	-4.383	0.29326	T	.	.	0.311	0.55313	B	.;.	.;.	1.168359	0.15580	11.95	0.97722145914521441	0.35561	0.46172	0.27701	N	AEFDBCI	0.099655	0.20055	N	-0.621315161741555	0.18304	0.949264	-0.602066211955068	0.19440	1.043	0.99999442965784	0.74766	0.242642	0.04205	2	0.298843	0.05288	2	0.47417	0.07244	0	0.249971	0.05119	0	.	.	5.28	1.24	0.20416	0.419000	0.20967	0.445000	0.18464	0.599000	0.40250	0.979000	0.35152	0.995000	0.32472	0.031000	0.13245	0.0:0.4351:0.48:0.0849	8.668	0.33296	175	0.93230	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1859.98	33	chr1	45499580	.	C	A	1859.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.314e+00;DP=858;ExcessHet=0.0000;FS=2.851;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=0.693;SOR=0.959	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1321	20	0	1	0
chr1	45566635	45566635	G	A	exonic	AKR1A1	.	nonsynonymous SNV	AKR1A1:NM_153326:exon3:c.G151A:p.G51S	.	.	415	1099	8	0	0	8	0.00362647	.	.	696777	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.19	T	0.075	B	0.097	B	0.000	N	1.000	D	2.5	M	0.81	T	-0.914	T	0.118	T	0.34	2.723	15.07	5.21	1.607	5.401	8.333	0.160	.	0.0068	0.00399361	0.0071	0.0015	0.0037	0	0.0095	0.0100	0.0033	0.0041	0.0071539	1106	154602	rs61751012	0.0090	0.0090	0.0092	0.0089	0.0104	0.0089	0.0089	0.0103	0.0102	0.0014	0.0055	0.0034	5.038e-05	0.0078	0.0031	0.0104	0.0073	0.0043	0.0068	0.0068	0.0073	0.0063	0.0100	0.0065	0.0063	0.0094	0.0092	0.0018	0.0011	0.0095	0.0037	0	0.0081	0	0.0100	0.0085	0.0041	0.223	0.18757	T	0.354	0.42086	T	0.075	0.24198	B	0.097	0.30390	B	0.000233	0.47286	N	0.244901	0.99977	0.48980	D	2.66	0.77858	M	0.81	0.48460	T	-2.91	0.69835	D	0.137	0.14054	-0.9138	0.46377	T	0.118	0.41495	T	10	0.010595292	0.00235	T	.	.	.	0.160	0.41473	.	.	0.560605342602	0.55722	0.7305347047557689	0.72998	0.0670236021482	0.07481	0.408516973257	0.26252	T	0.231725	0.59811	T	-0.409309	0.02009	T	-0.350333	0.39167	T	0.033654112619179	0.02580	T	0.868713	0.58433	D	0.31890693	0.54548	0.2083932	0.45140	0.31890693	0.54548	0.2083932	0.45139	-7.085	0.54652	T	.	.	0.163	0.37969	B	.;.;.;.;.;.	.;.;.;.;.;.	3.467385	0.48358	22.6	0.98781711872794942	0.46143	0.96111	0.67583	D	AEFBI	0.852859	0.76978	D	0.170234547691658	0.49772	3.174034	0.299125608907104	0.55488	3.711858	0.997420749452303	0.35604	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.13	5.21	0.72005	5.555000	0.67005	5.881000	0.50644	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0966:0.0:0.75:0.1534	8.333	0.31361	201	0.92177	NADP-dependent oxidoreductase domain|Aldo/keto reductase, conserved site|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|Aldo/keto reductase, conserved site|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|Aldo/keto reductase, conserved site|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|Aldo/keto reductase, conserved site|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|Aldo/keto reductase, conserved site|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|Aldo/keto reductase, conserved site|NADP-dependent oxidoreductase domain	.	.	.	.	rs61751012	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1771.98	34	chr1	45566635	.	G	A	1771.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.871;DP=833;ExcessHet=0.0000;FS=1.438;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.18;ReadPosRankSum=1.20;SOR=0.896	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1389	20	0	1	0
chr1	45602338	45602338	A	G	exonic	NASP	.	nonsynonymous SNV	NASP:NM_002482:exon3:c.A191G:p.N64S	.	.	.	.	.	.	.	.	.	.	.	3447959	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.782	P	0.327	B	0.000	D	1.000	D	1.055	L	-3.35	D	0.494	D	0.669	D	0.139	3.278	17.01	5.65	2.161	3.730	11.819	0.420	0.0832691411899	7.7e-05	0.000399361	0.0001	9.638e-05	0	0.0001	0	0.0001	0.0033	0.0001	0.0001035	16	154602	rs201781475	9.717e-05	9.713e-05	9.532e-05	9.904e-05	0.0002	8.379e-05	7.918e-05	8.215e-05	7.635e-05	0	0.0001	3.83e-05	7.562e-05	0	0.0002	9.715e-05	0.0003	6.956e-05	5.909e-05	5.905e-05	6.424e-05	5.37e-05	0.0002	3.075e-05	2.208e-05	3.762e-05	2.575e-05	2.405e-05	0	0	0	0.0002	0	0	8.82e-05	0.0005	0	0.304	0.23905	T	0.246	0.34837	T	0.675	0.41275	P	0.175	0.35598	B	0.000045	0.53742	D	0.191919	0.946174	0.81001	D	1.295	0.32453	L	-3.35	0.94022	D	-1.92	0.49846	N	0.272	0.34659	0.494	0.90458	D	0.669	0.88508	D	10	0.19431841	0.35237	T	0.083269	0.74079	D	0.420	0.72930	.	.	0.936092098758	0.93543	0.07479682284608008	0.07415	0.219448234896	0.24485	0.671316444874	0.63025	T	0.321386	0.69249	T	-0.148945	0.28476	T	-0.192046	0.55397	T	0.027324203401804	0.01590	T	0.90021	0.65830	D	0.105804905	0.25018	0.11118234	0.26817	0.105804905	0.25018	0.11118234	0.26816	-7.255	0.55875	T	.	.	0.089	0.31882	B	.;.;.;.;.	.;.;.;.;.	3.651098	0.51821	23.2	0.99808901413959539	0.89264	0.75736	0.37097	D	AEFDGBCIJ	0.338257	0.43579	N	0.193275900769096	0.50876	3.273549	0.327365159230845	0.57153	3.880197	0.999997933070837	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.645665	0.59343	0	.	.	5.65	5.65	0.86881	3.724000	0.54690	10.643000	0.83517	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8537:0.1462:0.0:0.0	11.819	0.51500	201	0.92177	Tetratricopeptide repeat-containing domain;.;Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1811.98	33	chr1	45602338	.	A	G	1811.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.210e-01;DP=857;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=-1.550e-01;SOR=0.648	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1221	20	0	1	0
chr1	45824568	45824568	A	G	exonic	MAST2	.	nonsynonymous SNV	MAST2:NM_001319245:exon2:c.A313G:p.S105G	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.001	B	0.002	B	0.051	N	1.000	N	-0.205	N	0.04	T	-1.035	T	0.088	T	0.101	1.355	10.46	3.07	0.367	2.784	9.486	0.042	0.0167204306716	0.0002	0.000199681	0.0002	0	8.649e-05	0	0	0.0002	0.0011	0.0003	0.0001488	23	154602	rs371442168	8.647e-05	8.893e-05	7.69e-05	9.619e-05	0.0021	7.394e-05	6.892e-05	0.0012	0.0010	0	9.275e-05	0	0	0	0.0021	8.166e-05	5.026e-05	0.0002	7.876e-05	7.873e-05	8.991e-05	6.71e-05	0.0002	4.492e-05	3.508e-05	0.0001	7.893e-05	0	0	0	0	0	0	0	0.0002	0	0	0.505	0.07619	T	0.596	0.08052	T	0.001	0.07471	B	0.002	0.06944	B	0.050897	0.23030	N	0.376437	1	0.08975	N	0.525	0.13617	N	0.04	0.62051	T	1.2	0.01078	N	0.143	0.14338	-1.0349	0.18888	T	0.088	0.33996	T	10	0.042954236	0.03095	T	0.01672	0.38109	T	0.042	0.11227	.	.	0.678335828294	0.67560	0.13572365257519858	0.13496	0.204182828251	0.22841	0.349896669388	0.17907	T	0.008097	0.07453	T	-0.360972	0.04075	T	-0.496608	0.22699	T	0.0350125865706361	0.02810	T	0.759724	0.38410	T	0.08782553	0.20466	0.042488307	0.05072	0.08782553	0.20465	0.042488307	0.05072	-4.451	0.30243	T	.	.	0.065	0.01909	B	.	.	2.780725	0.36527	20.3	0.98786441121119328	0.46222	0.70592	0.34654	D	AEFBI	0.155807	0.28106	N	-0.549857125057611	0.20488	1.08041	-0.339985697614323	0.26820	1.483972	0.833295666864362	0.24732	0.743674	0.98306	0	0.708844	0.79440	0	0.630245	0.45026	0	0.613276	0.41899	0	.	.	5.39	3.07	0.34476	2.661000	0.46423	3.940000	0.40597	0.715000	0.85334	1.000000	0.71638	0.907000	0.28067	0.994000	0.71098	0.8562:0.0:0.1438:0.0	9.486	0.38091	125	0.94984	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	404.98	33	chr1	45824568	.	A	G	404.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.820e+00;DP=734;ExcessHet=0.0000;FS=2.524;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.00;ReadPosRankSum=-1.490e-01;SOR=1.093	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr1	46019662	46019662	A	G	exonic	MAST2	.	nonsynonymous SNV	MAST2:NM_001319245:exon11:c.A1255G:p.I419V	.	.	.	.	.	.	.	.	.	.	.	3277905	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.49	T	0.003	B	0.019	B	0.086	N	0.828	D	0.9	L	1.46	T	-1.027	T	0.043	T	0.081	1.061	9.335	-0.751	0.007	0.948	9.040	0.038	0.00835153113403	.	.	0.0002	0	0.0002	0	0	0	0.0022	0.0012	0.0001488	23	154602	rs763749553	0.0001	0.0001	4.22e-05	0.0002	0.0015	8.78e-05	8.266e-05	0.0013	0.0012	0	0	0	0	0	0	7.194e-06	0.0002	0.0015	3.282e-05	3.281e-05	0	6.711e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.603	0.10694	T	0.333	0.24987	T	0.003	0.11197	B	0.019	0.18783	B	0.086031	0.20609	N	0.496350	0.828266	0.34878	D	0.83	0.20963	L	1.46	0.32238	T	-0.23	0.10656	N	0.224	0.25130	-1.0274	0.21299	T	0.043	0.18451	T	10	0.029153794	0.01043	T	0.008352	0.22105	T	0.038	0.09825	0.654	0.79172	0.47432691512	0.47060	0.15576046640620866	0.15497	0.190368356995	0.21353	0.44664683938	0.31485	T	0.013803	0.11871	T	-0.604015	0.00138	T	-0.659417	0.08306	T	0.0109873584102584	0.00158	T	0.671133	0.27986	T	0.021379635	0.00737	0.028712131	0.01133	0.021379635	0.00737	0.028712131	0.01132	-5.789	0.44478	T	.	.	0.056	0.02488	B	.;.;.	.;.;.	0.479954	0.08493	5.255	0.69646249120017856	0.09039	0.44888	0.27417	N	AEDBI	0.120142	0.23417	N	-0.750775284809903	0.14612	0.7293402	-0.623773340454057	0.18883	1.010723	0.872922468487534	0.25455	0.706298	0.61202	0	0.724815	0.89359	0	0.719019	0.79029	0	0.613276	0.41899	0	.	.	5.1	-0.751	0.10518	0.956000	0.28799	-0.157000	0.11360	-0.164000	0.11507	0.956000	0.33378	0.000000	0.08366	0.997000	0.79791	0.7446:0.0:0.2554:0.0	9.040	0.35474	126	0.94940	Microtubule-associated serine/threonine-protein kinase, domain;Microtubule-associated serine/threonine-protein kinase, domain;Microtubule-associated serine/threonine-protein kinase, domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1142.98	33	chr1	46019662	.	A	G	1142.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.700e-01;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=-6.740e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1157	20	0	1	0
chr1	46035072	46035072	G	T	exonic	MAST2	.	nonsynonymous SNV	MAST2:NM_001319245:exon29:c.G4400T:p.G1467V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.905	P	0.003	N	1.000	D	0.975	L	-0.16	T	-0.447	T	0.305	T	0.652	2.779	15.26	2.83	1.341	4.012	11.514	0.193	0.0373627508977	.	.	7.646e-05	0	0	0	0	6.179e-05	0.0034	0.0001	5.82e-05	9	154602	rs3737737	5.269e-05	5.267e-05	4.357e-05	6.19e-05	5.756e-05	4.279e-05	3.954e-05	4.612e-05	4.197e-05	0	0	0	0	0	0	5.756e-05	0.0002	3.478e-05	6.57e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.006	0.70582	D	0.995	0.67487	D	0.593	0.50536	P	0.002580	0.36316	N	0.222658	0.999999	0.81001	D	2.57	0.75187	M	-0.16	0.65378	T	-2.21	0.49684	N	0.497	0.53006	-0.4469	0.70502	T	0.305	0.67593	T	10	0.4219395	0.56922	T	0.037363	0.57572	D	0.193	0.47281	0.159	0.06287	0.847962216055	0.84650	0.17234931617036456	0.17154	0.83008999717	0.67584	0.607342362404	0.53940	T	0.020479	0.16118	T	-0.0267274	0.47890	T	-0.0725686	0.65443	T	0.166375330918714	0.18329	T	0.858914	0.54988	D	0.19908237	0.41834	0.24040319	0.49413	0.19908237	0.41834	0.24040319	0.49412	-4.319	0.28442	T	.	.	0.139	0.30397	B	.	.	3.762998	0.53999	23.4	0.99499605745659014	0.67973	0.91722	0.54125	D	AEFDBHCI	0.518607	0.54424	D	0.243458496471999	0.53315	3.501036	0.203666810095642	0.50049	3.201211	0.999999570681847	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.779548	0.98927	0	0.711	0.71501	0	.	.	4.71	2.83	0.32150	3.442000	0.52663	6.300000	0.55412	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.520000	0.29475	0.1547:0.0:0.8453:0.0	11.514	0.49757	80	0.96670	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	5548.43	34	chr1	46035072	.	G	C,T	5548.43	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=0.064;DP=1182;ExcessHet=0.3300;FS=1.729;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=0.377;SOR=0.578	GT:AD:DP:GQ:PL	0/0:36,0,0:36:99:0,99,1355,99,1355,1355	18	0	2	0
chr1	46185497	46185497	G	A	exonic	TSPAN1	.	nonsynonymous SNV	TSPAN1:NM_005727:exon9:c.G690A:p.M230I,	.	.	413	1103	5	1	0	7	0.00316313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.957	D	0.859	P	0.000	D	1.000	D	2.18	M	-1.16	T	-0.160	T	0.533	D	0.9	4.721	26.3	5.36	2.515	5.971	16.230	0.627	0.0883654677359	0.0028	0.00139776	0.0030	0.0005	0.0022	0	0.0032	0.0039	0.0033	0.0030	0.0028654	443	154602	rs34463133	0.0029	0.0029	0.0029	0.0029	0.0034	0.0028	0.0028	0.0032	0.0031	0.0004	0.0014	0.0003	0.0001	0.0023	0.0033	0.0032	0.0023	0.0034	0.0022	0.0022	0.0022	0.0021	0.0035	0.0020	0.0019	0.0030	0.0028	0.0007	0.0011	0.0012	0	0	0.0033	0	0.0033	0.0014	0.0035	0.163	0.23450	T	0.016	0.60972	D	0.957	0.54824	D	0.859	0.61184	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.4	0.69460	M	-1.16	0.78082	T	-2.68	0.57275	D	0.338	0.37923	-0.1596	0.78681	T	0.533	0.82709	D	10	0.013733625	0.00290	T	0.088365	0.75120	D	0.627	0.85615	0.658	0.79585	0.652953024311	0.65006	0.7969632555474615	0.79649	0.777021582019	0.65084	0.477970838547	0.35777	T	0.298677	0.67123	T	0.0068506	0.52596	T	0.235908	0.84954	D	0.0196533650159836	0.00668	T	0.849815	0.53298	T	0.62144357	0.73841	0.5577279	0.74415	0.62144357	0.73842	0.5577279	0.74416	-6.471	0.50062	T	.	.	0.895	0.82395	P	.	.	4.477672	0.69836	25.4	0.99572763326683877	0.72501	0.84188	0.43271	D	AEFDGBHCI	0.814069	0.73639	D	0.550366806505879	0.70105	5.452827	0.564604200701153	0.72420	5.806931	0.999999999999966	0.74766	0.615755	0.39536	0	0.618376	0.53248	0	0.536957	0.11973	0	0.645665	0.59343	0	.	.	5.36	5.36	0.76624	6.395000	0.73157	9.977000	0.82899	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	16.230	0.82154	91	0.96221	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1806.98	34	chr1	46185497	.	G	A	1806.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.619e+00;DP=930;ExcessHet=0.0000;FS=1.976;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.58;ReadPosRankSum=-1.180e+00;SOR=0.599	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1334	20	0	1	0
chr1	46188819	46188819	G	A	exonic	POMGNT1	.	nonsynonymous SNV	POMGNT1:NM_001243766:exon23:c.C2147T:p.A716V,	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, Autosomal recessive;Retinitis pigmentosa 76, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	282490	not_provided|Congenital_Muscular_Dystrophy,_alpha-dystroglycan_related|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O	MedGen:C3661900|MedGen:CN239202|MONDO:MONDO:0013161,MedGen:C3150417,OMIM:613157,Orphanet:206564	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.1	T	0.0	B	0.0	B	0.654	N	1.000	N	.	.	1.32	T	-1.016	T	0.029	T	0.098	2.330	13.75	0.939	0.195	0.432	1.818	0.056	.	0.0031	0.00479233	0.0010	0.0113	0.0016	0	0	1.591e-05	0	0	0.0009379	145	154602	rs148903585	0.0004	0.0004	0.0005	0.0003	0.0116	0.0003	0.0003	0.0106	0.0103	0.0116	0.0011	0	0	1.912e-05	0.0003	2.338e-05	0.0009	2.319e-05	0.0034	0.0034	0.0035	0.0034	0.0114	0.0032	0.0031	0.0106	0.0102	0.0114	0	0.0021	0	0	0	0	0.0001	0.0028	0	0.079	0.33753	T	.	.	.	.	.	.	.	.	.	0.654225	0.05941	N	1.250850	1	0.08975	N	.	.	.	1.32	0.35219	T	0.25	0.04456	N	0.1	0.08227	-1.0163	0.24916	T	0.029	0.12497	T	9	0.0029322803	0.00047	T	.	.	.	0.056	0.15993	.	.	0.159798565429	0.15598	0.06121373546112708	0.06061	0.503832317247	0.48685	0.333447396755	0.15454	T	.	.	.	-0.602559	0.00141	T	-0.627923	0.10573	T	0.00885504612654988	0.00110	T	0.205679	0.02432	T	.	.	.	.	.	.	.	.	-3.951	0.23068	T	.	.	0.094	0.14477	B	.	.	0.131557	0.05272	1.769	0.99615665860858893	0.75112	0.09251	0.15045	N	ALL	0.116119	0.22803	N	-0.71341910840986	0.15644	0.7902055	-0.731292514315385	0.16183	0.8548759	0.999502253849179	0.40062	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.62	0.939	0.18631	0.471000	0.21811	-0.672000	0.07929	-0.127000	0.13314	0.005000	0.17040	0.000000	0.08366	0.802000	0.37819	0.153:0.1754:0.4905:0.1811	1.818	0.02917	92	0.96160	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1237.98	37	chr1	46188819	.	G	A	1237.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.220e-01;DP=811;ExcessHet=0.0000;FS=2.379;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=-1.090e+00;SOR=0.759	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1204	20	0	1	0
chr1	46219733	46219733	A	G	exonic	LURAP1	.	nonsynonymous SNV	LURAP1:NM_001013615:exon2:c.A233G:p.Q78R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.996	D	0.871	P	0.000	D	1.000	D	0.695	N	.	.	-0.905	T	0.120	T	0.22	2.533	14.43	5.82	2.216	5.980	16.177	0.139	.	0.0049	0.00658946	0.0018	0.0182	0.0018	0	0	3.084e-05	0	0	0.0016171	250	154602	rs140465444	0.0005	0.0005	0.0006	0.0004	0.0162	0.0005	0.0004	0.0150	0.0146	0.0162	0.0015	0	0	1.884e-05	0.0003	2.708e-05	0.0012	2.351e-05	0.0048	0.0048	0.0050	0.0046	0.0160	0.0045	0.0044	0.0150	0.0146	0.0160	0	0.0028	0	0	0	0	0.0002	0.0038	0	0.468	0.08534	T	0.082	0.41573	T	0.996	0.68779	D	0.871	0.61869	P	0.000447	0.44317	D	0.238733	1	0.81001	D	1.15	0.29295	L	.	.	.	-0.84	0.22944	N	0.334	0.37509	-0.9049	0.47458	T	0.120	0.42015	T	9	0.00914973	0.00207	T	.	.	.	0.139	0.37390	.	.	0.542100083394	0.53862	0.3726340020116176	0.37177	0.379959950235	0.39377	0.644112467766	0.59148	T	0.020508	0.16136	T	-0.432141	0.01439	T	-0.379237	0.35812	T	0.0379802283200116	0.03329	T	0.791221	0.43226	T	0.20097661	0.42091	0.17602915	0.40109	0.20097661	0.42091	0.17602915	0.40108	-4.178	0.26432	T	.	.	0.129	0.27583	B	.	.	3.606540	0.50966	23.0	0.98877256026027005	0.47754	0.96036	0.67243	D	AEFDBI	0.770386	0.70535	D	0.457966084086779	0.64657	4.725187	0.530048284710689	0.70023	5.444372	0.999993775429369	0.74766	0.643511	0.44296	0	0.588015	0.36545	0	0.688494	0.62686	0	0.655142	0.61905	0	.	.	5.82	5.82	0.92740	5.993000	0.70289	11.262000	0.91111	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.177	0.81677	104	0.95701	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1606.98	33	chr1	46219733	.	A	G	1606.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.534;DP=851;ExcessHet=0.0000;FS=0.627;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.56;ReadPosRankSum=-1.303e+00;SOR=0.674	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr1	46270754	46270754	C	T	exonic	RAD54L	.	nonsynonymous SNV	RAD54L:NM_001370766:exon10:c.C598T:p.R200W	Adenocarcinoma, colonic, somatic (3);Lymphoma, non-Hodgkin, somatic	YES	.	.	.	.	.	.	.	.	.	918055	Premature_ovarian_failure|Hereditary_breast_ovarian_cancer_syndrome	MONDO:MONDO:0005387,MedGen:C0085215|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.985	D	0.000	D	1.000	D	3.635	H	-3.28	D	1.036	D	0.918	D	0.684	3.772	19.15	5.71	2.691	3.212	12.880	0.773	0.272809377827	7.7e-05	.	7.414e-05	0	0	0	0.0002	0.0001	0	6.057e-05	7.12e-05	11	154602	rs150138364	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	9.415e-05	0.0001	0.0001	0	0	0	0	1.872e-05	0	0.0001	0.0001	4.637e-05	5.257e-05	5.254e-05	6.423e-05	4.035e-05	8.82e-05	2.557e-05	1.83e-05	3.762e-05	2.575e-05	4.825e-05	0	0	0	0	0	0	8.82e-05	0	0	0.003	0.68238	D	0.005	0.72224	D	0.999	0.77913	D	0.958	0.70027	D	0.000001	0.84330	D	0.053328	0.999627	0.47904	D	3.88	0.95983	H	-3.28	0.93691	D	-5.01	0.82450	D	0.489	0.52829	1.036	0.97836	D	0.918	0.97281	D	10	0.7820683	0.77937	D	0.272809	0.89943	D	0.773	0.92378	.	.	0.994810710862	0.99475	0.788573252800691	0.78809	0.580584510685	0.53898	0.622770547867	0.56120	T	0.916791	0.98478	D	0.153139	0.69563	D	0.17984	0.81986	D	0.977153539657593	0.71710	D	0.983302	0.94339	D	0.70802915	0.78499	0.7194637	0.83437	0.70802915	0.78501	0.7194637	0.83438	-14.94	0.95710	D	.	.	0.572	0.67698	P	.;.	.;.	5.367416	0.89995	31	0.99920656920694839	0.98721	0.84062	0.43148	D	AEFDBCI	0.515230	0.54227	D	0.794898684560595	0.85786	8.681062	0.698113573318962	0.82235	7.717137	0.915529745981557	0.26485	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.71	5.71	0.89031	3.326000	0.51749	4.941000	0.46210	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.2703:0.7297:0.0:0.0	12.880	0.57404	107	0.95615	SNF2-related, N-terminal domain;SNF2-related, N-terminal domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	717.98	66	chr1	46270754	.	C	T	717.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.99;DP=766;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.88;ReadPosRankSum=0.805;SOR=0.763	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1111	20	0	1	0
chr1	46303294	46303294	C	T	exonic	LRRC41	.	nonsynonymous SNV	LRRC41:NM_006369:exon1:c.G29A:p.R10Q,	.	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.414	B	0.05	B	.	.	0.985	N	0.345	N	0.83	T	-1.073	T	0.068	T	0.451	3.603	18.34	3.66	0.708	2.465	9.920	0.110	0.0159833361987	.	0.000599042	0.0004	0.0029	0	0	0	0.0003	0	0.0003	0.0001488	23	154602	rs552710485	0.0001	0.0001	9.959e-05	0.0001	0.0015	9.696e-05	9.133e-05	0.0011	0.0010	0.0015	0.0005	0	0	0	0.0005	4.37e-05	0.0002	0.0004	0.0005	0.0005	0.0004	0.0006	0.0013	0.0004	0.0004	0.0011	0.0010	0.0013	0	0.0005	0	0	0	0	5.88e-05	0.0019	0.0006	0.0	0.91255	D	0.421	0.14075	T	0.128	0.27003	B	0.011	0.15521	B	.	.	.	.	0.984653	0.24781	N	0	0.06538	N	0.83	0.47815	T	-0.11	0.08653	N	0.259	0.40364	-1.0725	0.08873	T	0.068	0.27845	T	9	0.010084569	0.00226	T	0.015983	0.37005	T	0.110	0.31079	.	.	0.196089822672	0.19227	0.3305194657290318	0.32964	0.932577674306	0.71894	0.715742647648	0.69427	T	0.003956	0.03363	T	-0.317552	0.07100	T	-0.235702	0.51217	T	0.154340999246711	0.17444	T	0.679032	0.28770	T	0.2053594	0.42676	0.3256703	0.58481	0.2053594	0.42676	0.3256703	0.58480	-4.768	0.34216	T	.	.	0.332	0.56396	B	.;.	.;.	4.347063	0.66733	25.0	0.99671941251785934	0.78652	0.55928	0.29988	D	ALL	0.229651	0.35314	N	-0.376081548272748	0.26324	1.435791	-0.200517929057503	0.31518	1.784484	1.0	0.98316	0.266657	0.04791	1	0.484254	0.07192	0	0.289072	0.05449	1	0.249971	0.05119	0	.	.	5.51	3.66	0.41111	1.440000	0.34634	4.021000	0.41251	-0.242000	0.07441	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.836:0.0:0.164	9.920	0.40626	95	0.96074	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	648.98	34	chr1	46303294	.	C	T	648.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.318;DP=764;ExcessHet=0.0000;FS=1.029;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.80;ReadPosRankSum=-9.430e-01;SOR=0.514	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1008	20	0	1	0
chr1	46402197	46402232	TGGGAAAGGTAAGGCCAGCCAAGGCCAGCCCCTCCC	-	exonic	FAAH	.	frameshift deletion	FAAH:NM_001441:exon2:c.302_309del:p.V101Gfs*17,	.	.	399	1116	6	1	0	8	0.00357143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0067	0.0006	0.0025	0	0.0001	0	0.0077	0.0001537	4	26028	rs771132315	0.0020	0.0022	0.0018	0.0022	0.0200	0.0020	0.0020	0.0188	0.0183	0.0166	0.0013	0.0039	0.0200	0.0023	0.0035	0.0002	0.0033	0.0113	0.0069	0.0071	0.0070	0.0069	0.0185	0.0066	0.0064	0.0174	0.0169	0.0185	0	0.0018	0.0032	0.0174	0.0030	0.0408	0.0003	0.0071	0.0168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	180.94	34	chr1	46402196	.	GTGGGAAAGGTAAGGCCAGCCAAGGCCAGCCCCTCCC	G	180.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.740e-01;DP=754;ExcessHet=0.0000;FS=5.402;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.46;ReadPosRankSum=-1.460e-01;SOR=2.584	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1309	20	0	1	0
chr1	46408574	46408574	C	T	exonic	FAAH	.	nonsynonymous SNV	FAAH:NM_001441:exon8:c.C1067T:p.A356V,	.	.	414	1101	6	1	0	8	0.00361991	.	.	718997	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.936	D	0.000	D	1.000	D	3.115	M	0.44	T	-0.196	T	0.267	T	0.678	5.097	31	5.4	2.548	5.585	19.190	0.396	.	0.0009	0.00838658	0.0034	0.0022	0.0006	0.0169	0	0.0003	0.0011	0.0131	0.0031953	494	154602	rs77101686	0.0017	0.0017	0.0014	0.0020	0.0222	0.0017	0.0016	0.0210	0.0205	0.0020	0.0007	0.0043	0.0222	0	0.0040	0.0001	0.0028	0.0129	0.0020	0.0020	0.0017	0.0023	0.0183	0.0018	0.0017	0.0153	0.0142	0.0020	0	0.0003	0.0032	0.0183	0	0.0374	0.0002	0.0024	0.0170	0.003	0.68238	D	0.029	0.54541	D	1.0	0.90584	D	0.936	0.67150	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.745	0.80253	M	0.44	0.56609	T	-3.67	0.70191	D	0.73	0.73105	-0.1956	0.77785	T	0.267	0.63865	T	10	0.011951804	0.00259	T	.	.	.	0.396	0.71084	.	.	0.806064019638	0.80425	0.41192656414094786	0.41108	1.09401069555	0.77525	0.473352611065	0.35141	T	0.246407	0.61587	T	-0.225032	0.17311	T	-0.0790997	0.64970	T	0.0260833959470182	0.01417	T	0.975069	0.91165	D	0.70709634	0.78448	0.6738057	0.80852	0.70709634	0.78449	0.6738057	0.80853	-9.851	0.73015	D	.	.	0.122	0.25462	B	.	.	5.044160	0.83977	28.2	0.99938092350158414	0.99698	0.97203	0.73298	D	AEFBI	0.816052	0.73787	D	0.866589364303899	0.90032	10.223	0.80987765835272	0.90471	10.42277	0.999999931186536	0.74766	0.719381	0.83141	0	0.633656	0.55848	0	0.723133	0.82415	0	0.542086	0.14980	0	.	.	5.4	5.4	0.77957	5.685000	0.67865	5.964000	0.51876	-0.175000	0.10903	1.000000	0.71638	1.000000	0.68203	0.905000	0.44082	0.0:1.0:0.0:0.0	19.190	0.93646	94	0.96106	Amidase signature domain	.	.	.	.	rs77101686	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1597.98	34	chr1	46408574	.	C	T	1597.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.832;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=1.22;SOR=0.673	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr1	46412213	46412213	C	G	exonic	FAAH	.	nonsynonymous SNV	FAAH:NM_001441:exon13:c.C1427G:p.A476G,	.	.	415	1100	6	1	0	8	0.00362319	.	.	719000	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.76	T	0.0	B	0.0	B	0.000	N	1.000	N	-0.235	N	-0.13	T	-1.094	T	0.053	T	0.149	0.490	6.661	4.66	1.203	6.705	15.054	0.147	.	0.0008	0.00858626	0.0055	0.0020	0.0018	0.0206	0	0.0005	0.0050	0.0119	0.0019728	305	154602	rs75429705	0.0017	0.0017	0.0014	0.0020	0.0225	0.0016	0.0016	0.0212	0.0207	0.0020	0.0007	0.0043	0.0225	0	0.0040	8.864e-05	0.0030	0.0128	0.0020	0.0020	0.0017	0.0023	0.0181	0.0018	0.0017	0.0152	0.0141	0.0020	0	0.0003	0.0032	0.0181	0	0.0374	0.0002	0.0024	0.0172	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000022	0.55875	N	0.120287	0.999789	0.20372	N	-1.135	0.00931	N	-0.13	0.64818	T	1.94	0.00435	N	0.134	0.13055	-1.0944	0.04839	T	0.053	0.22539	T	10	0.008026004	0.00182	T	.	.	.	0.147	0.38986	.	.	0.586602809486	0.58333	0.6235040766255612	0.62283	0.337364224605	0.35732	0.365211248398	0.20142	T	0.026639	0.19670	T	-0.473302	0.00811	T	-0.436386	0.29212	T	0.00636535984990673	0.00071	T	0.0621938	0.00452	T	0.08743576	0.20361	0.10064022	0.24069	0.08743576	0.20360	0.10064022	0.24068	0.162	0.00296	T	.	.	0.046	0.00057	B	.	.	2.511553	0.32436	19.04	0.83504806691106614	0.14762	0.08016	0.13994	N	ALL	0.039342	0.05699	N	-0.579435519013347	0.19570	1.025281	-0.366861812356833	0.25992	1.432885	0.999999999658464	0.74766	0.631981	0.41245	0	0.61073	0.52368	0	0.779548	0.98927	0	0.638833	0.57524	0	.	.	4.66	4.66	0.57857	7.047000	0.76316	9.878000	0.82178	-0.107000	0.15377	1.000000	0.71638	1.000000	0.68203	0.733000	0.35199	0.0:0.1428:0.8572:0.0	15.054	0.71567	94	0.96106	Amidase signature domain	.	.	.	.	rs75429705	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1218.98	36	chr1	46412213	.	C	G	1218.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.434;DP=849;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=0.434;SOR=0.738	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1292	20	0	1	0
chr1	46511063	46511063	T	A	exonic	DMBX1	.	nonsynonymous SNV	DMBX1:NM_147192:exon3:c.T477A:p.D159E	.	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.084	N	1.000	N	-0.145	N	-3.07	D	-0.627	T	0.393	T	0.019	-0.105	3.485	-0.24	0.087	-0.281	1.561	0.211	0.0913191228614	.	.	0.0004	0	0	0	0	0.0003	0	0.0015	0.0003105	48	154602	rs200899250	0.0002	0.0002	0.0002	0.0003	0.0017	0.0002	0.0002	0.0015	0.0014	0	4.473e-05	0.0019	0	0	0.0012	0.0001	0.0005	0.0017	0.0002	0.0002	0.0001	0.0003	0.0015	0.0001	0.0001	0.0007	0.0005	2.406e-05	0	0.0005	0.0023	0	0	0.0034	7.35e-05	0	0.0015	0.565	0.06282	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.084077	0.20717	N	0.553031	0.999731	0.20771	N	-0.205	0.04094	N	-3.07	0.92938	D	0.11	0.05706	N	0.086	0.07673	-0.6266	0.63714	T	0.393	0.74656	T	10	0.006982118	0.00159	T	0.091319	0.75684	D	0.211	0.50185	0.158	0.06178	0.344740032716	0.34089	0.2479999156111008	0.24713	0.32656759674	0.34803	0.417535930872	0.27499	T	0.077742	0.35726	T	-0.509524	0.00505	T	-0.523687	0.19922	T	0.00951277754141228	0.00123	T	0.579842	0.22366	T	0.031391006	0.02970	0.034634586	0.02566	0.031391006	0.02969	0.034634586	0.02566	-2.896	0.09264	T	.	.	0.075	0.05360	B	.;.	.;.	0.066546	0.04760	1.382	0.74093178379257119	0.10567	0.10295	0.15841	N	AEFBI	0.121889	0.23677	N	-1.31706171184087	0.03480	0.15551	-1.22721476300897	0.05476	0.2610475	0.0132203857542701	0.12433	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.32	-0.24	0.12403	-0.262000	0.08706	-1.628000	0.05030	-0.349000	0.05595	0.000000	0.06391	0.000000	0.08366	0.372000	0.26156	0.1386:0.4024:0.1542:0.3048	1.561	0.02438	85	0.96447	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1037.98	38	chr1	46511063	.	T	A	1037.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.11;DP=933;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=-6.910e-01;SOR=0.606	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1436	20	0	1	0
chr1	46547786	46547786	C	T	exonic	KNCN	.	nonsynonymous SNV	KNCN:NM_001097611:exon3:c.G250A:p.V84M	.	.	.	.	.	.	.	.	.	.	.	2263399	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	.	.	0.919	N	.	.	.	.	-0.789	T	0.268	T	0.568	3.751	19.04	3.54	2.285	3.241	10.892	0.178	0.0169740481699	8e-05	.	0.0002	0	0	0	0	0.0003	0	0	1.94e-05	3	154602	rs369636358	5.868e-05	6.84e-05	5.341e-05	6.424e-05	0.0002	4.765e-05	4.403e-05	6.839e-05	4.382e-05	0.0002	0	0	0.0001	0.0009	0	2.114e-05	1.847e-05	7.819e-05	0.0002	0.0002	8.991e-05	0.0003	0.0004	0.0001	0.0001	6.82e-05	2.855e-05	7.239e-05	0	0	0	0.0004	0.0019	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	.	.	.	.	0.919325	0.27330	N	.	.	.	.	.	.	-1.59	0.53736	N	0.404	0.64308	-0.7894	0.55765	T	0.268	0.63918	T	7	0.061154455	0.07624	T	0.016974	0.38471	T	0.178	0.44724	.	.	0.0297737177859	0.01360	0.27335471736287553	0.27248	0.45173595615	0.44915	0.668841838837	0.62673	T	0.021509	0.16737	T	-0.149916	0.28323	T	-0.159634	0.58386	T	0.286609208707041	0.24448	T	0.854814	0.54842	D	0.3451204	0.56684	0.4925712	0.70648	0.3451204	0.56684	0.4925712	0.70648	-4.657	0.33622	T	.	.	0.329	0.60762	B	.;.	.;.	5.026709	0.83583	28.1	0.99873890147032596	0.95160	0.73435	0.35921	D	AEFDGBCI	0.230766	0.35410	N	0.507819324820951	0.67550	5.09676	0.444471888573135	0.64363	4.689696	0.999978109460554	0.50053	0.59774	0.34471	0	0.615948	0.52940	0	0.596491	0.31596	0	0.584449	0.35598	0	.	.	3.54	3.54	0.39650	3.277000	0.51358	7.339000	0.58239	0.599000	0.40250	0.987000	0.36337	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	10.892	0.46211	101	0.95833	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1078.98	35	chr1	46547786	.	C	T	1078.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.679e+00;DP=795;ExcessHet=0.0000;FS=1.972;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.58;ReadPosRankSum=-4.150e-01;SOR=0.477	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1343	20	0	1	0
chr1	46609657	46609657	A	G	exonic	MOB3C	.	stoploss	MOB3C:NM_145279:exon4:c.T649C:p.X217R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	4.791	27.0	5.79	2.207	8.093	14.959	.	.	0.0002	.	1.649e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs149444077	1.847e-05	1.847e-05	2.45e-05	1.238e-05	0.0006	1.265e-05	1.084e-05	0.0004	0.0004	0.0006	2.236e-05	0	0	0	0	0	6.623e-05	1.159e-05	4.6e-05	4.597e-05	6.424e-05	2.69e-05	0.0002	2.109e-05	1.527e-05	7.894e-05	5.589e-05	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.034	0.00942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0180241	0.49134	T	0.0423098	0.73078	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	2.451444	0.31569	18.78	0.88892487107315221	0.18340	0.99681	0.98618	D	AEFBI	.	.	.	1.15367296284021	0.99010	20.26039	1.01202237881568	0.98846	19.59554	0.999999996366345	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.175069	0.04249	0	0.221052	0.04502	0	0.98122	0.86855	5.79	5.79	0.91751	8.240000	0.89758	11.296000	0.92177	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	1.0:0.0:0.0:0.0	14.959	0.70794	165	0.93588	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1082.98	36	chr1	46609657	.	A	G	1082.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.122e+00;DP=793;ExcessHet=0.0000;FS=1.588;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.41;ReadPosRankSum=1.18;SOR=0.515	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1227	20	0	1	0
chr1	46613215	46613215	G	C	exonic	MOB3C	.	nonsynonymous SNV	MOB3C:NM_145279:exon2:c.C107G:p.A36G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	3.025	M	.	.	0.264	D	0.557	D	0.741	5.819	36	5.31	2.490	9.817	17.964	0.582	0.0139583808919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.01	0.76473	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.385	0.91502	M	.	.	.	-3.89	0.72820	D	0.774	0.77132	0.264	0.86973	D	0.557	0.83845	D	9	0.6686675	0.70580	D	0.013958	0.33748	T	0.582	0.83193	0.642	0.77903	0.707347941332	0.70479	0.38905998175117595	0.38820	0.572858510513	0.53358	0.764638364315	0.76621	T	0.131582	0.46340	T	0.285581	0.81788	D	0.172441	0.81555	D	0.994002064544445	0.85055	D	0.990601	0.97065	D	0.75960207	0.81429	0.73670983	0.84438	0.75960207	0.81431	0.73670983	0.84440	-7.806	0.59740	D	.	.	0.649	0.77163	P	.;.;.	.;.;.	4.951349	0.81797	27.6	0.99793096647677015	0.87839	0.96467	0.69283	D	AEFDBHCI	0.898988	0.84287	D	0.950088505148483	0.93988	12.421	0.892121511922027	0.95220	13.41926	1.0	0.98316	0.660085	0.49399	0	0.662677	0.63036	0	0.735289	0.94003	0	0.683762	0.67416	0	.	.	5.31	5.31	0.75063	9.951000	0.98966	11.917000	0.99728	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	17.964	0.89013	173	0.93306	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	650.19	81	chr1	46613215	.	G	C	650.19	.	AC=3;AF=0.100;AN=30;BaseQRankSum=-2.295e+00;DP=2536;ExcessHet=0.3300;FS=133.457;InbreedingCoeff=-0.1712;MLEAC=4;MLEAF=0.133;MQ=60.00;MQRankSum=0.00;QD=1.27;ReadPosRankSum=1.21;SOR=10.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,50:168:99:0|1:46613214_G_C:427,0,2953:46613214	12	0	3	6
chr1	46673263	46673263	C	T	exonic	TEX38	.	nonsynonymous SNV	TEX38:NM_001145474:exon2:c.C428T:p.S143F	.	.	428	1023	66	5	0	76	0.0358153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0050	0.00798722	0.0150	0.0014	0.0130	0	0.0185	0.0115	0.0122	0.0235	0.0030271	468	154602	rs139847766	0.0068	0.0065	0.0061	0.0074	0.0228	0.0066	0.0066	0.0219	0.0215	0.0009	0.0025	0.0170	8.394e-05	0.0214	0.0183	0.0051	0.0075	0.0228	0.0069	0.0069	0.0058	0.0081	0.0251	0.0065	0.0064	0.0214	0.0201	0.0010	0	0.0025	0.0159	0	0.0263	0.0204	0.0073	0.0052	0.0251	0.002	0.91255	D	0.004	0.74150	D	0.019	0.17989	B	0.022	0.19653	B	.	.	.	.	0.999999	0.08975	N	1.7	0.43825	L	-1.05	0.76690	T	-3.38	0.78135	D	0.059	0.08646	.	.	.	.	.	.	.	0.003181696	0.00053	T	.	.	.	.	.	.	.	.	.	0.3266098415028297	0.32573	.	.	0.371366500854	0.21029	T	0.049521	0.32485	T	-0.408703	0.02028	T	-0.341597	0.40164	T	.	.	.	0.553645	0.19140	T	0.24107373	0.47018	0.2824542	0.54233	0.24107373	0.47018	0.2824542	0.54232	-4.009	0.23938	T	.	.	0.137	0.30211	B	.;.;.	.;.;.	2.704225	0.35333	19.87	0.99672898469081317	0.78717	0.08995	0.14837	N	AEFDBCI	0.084133	0.17050	N	.	.	.	.	.	.	0.984711121805387	0.30763	0.498214	0.20090	0	0.379588	0.06130	0	0.514364	0.09456	0	0.711	0.71501	0	.	.	4.87	2.91	0.32903	0.783000	0.26463	1.811000	0.28962	0.524000	0.24156	0.003000	0.16062	0.092000	0.22550	0.618000	0.31844	0.1893:0.7116:0.0:0.0992	5.869	0.18039	186	0.92733	.;.;.	.	.	.	.	rs139847766	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	5430.11	107	chr1	46673263	.	C	T	5430.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.41;DP=1964;ExcessHet=0.1072;FS=0.754;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=0.385;SOR=0.647	GT:AD:DP:GQ:PL	0/0:181,0:181:99:0,120,1800	19	0	2	0
chr1	46678618	46678618	C	T	exonic	EFCAB14	.	nonsynonymous SNV	EFCAB14:NM_014774:exon11:c.G1331A:p.R444H,	.	.	439	1075	7	1	0	9	0.0041686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.0	B	0.0	B	0.673	N	0.997	D	-1.245	N	3.04	T	-0.951	T	0.007	T	0.07	-0.559	1.475	2.88	0.440	1.304	4.357	0.049	.	.	0.00279553	0.0009	0	8.643e-05	0	0	1.5e-05	0.0011	0.0062	0.0008215	127	154602	rs572799869	0.0005	0.0005	0.0003	0.0006	0.0070	0.0004	0.0004	0.0065	0.0063	0	0	0	5.046e-05	1.873e-05	0.0002	1.89e-05	0.0006	0.0070	0.0003	0.0003	0.0002	0.0004	0.0081	0.0002	0.0002	0.0061	0.0054	2.41e-05	0	0	0	0	0	0	0	0	0.0081	1.0	0.00964	T	0.143	0.33219	T	0.0	0.02946	B	0.0	0.01387	B	0.673001	0.10324	N	0.861311	0.99726	0.43752	D	-1.4	0.00597	N	3.04	0.08810	T	0.77	0.01949	N	0.038	0.01203	-0.9514	0.40730	T	0.007	0.02399	T	10	0.0045357943	0.00094	T	.	.	.	0.049	0.13647	.	.	0.101711395817	0.09552	0.19881608764194802	0.19798	0.160446265012	0.18105	0.232040479779	0.02122	T	0.005987	0.05431	T	-0.663208	0.00060	T	-0.7224	0.04680	T	0.0403446691664305	0.03752	T	0.213879	0.02633	T	0.016162174	0.00180	0.026113372	0.00684	0.016162174	0.00180	0.026113372	0.00684	-5.387	0.40794	T	.	.	0.057	0.00524	B	.	.	1.883430	0.23925	16.20	0.80414156731790898	0.13191	0.06469	0.12478	N	AEFBI	0.024614	0.01553	N	-0.958795365989689	0.09496	0.4496877	-0.693369804851687	0.17126	0.9092313	0.132293724273485	0.17114	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.23	2.88	0.32617	1.300000	0.33040	-0.024000	0.12886	-0.901000	0.02322	1.000000	0.71638	0.381000	0.24616	0.981000	0.58702	0.1463:0.1557:0.0:0.698	4.357	0.10619	194	0.92479	EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	779.98	36	chr1	46678618	.	C	T	779.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.341;DP=757;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.93;ReadPosRankSum=-1.070e-01;SOR=0.843	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1250	20	0	1	0
chr1	47067668	47067668	G	T	splicing	CYP4Z1	NM_178134:exon1:c.177+1G>T	.	.	.	.	431	1088	3	0	0	3	0.00137678	1.0000	0.758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	.	.	.	.	.	.	.	.	.	0.864	8.500	3.1	1.555	2.749	9.558	.	.	.	0.0103834	0.0056	0	0.0002	0.0001	0	1.512e-05	0.0011	0.0435	0.0047865	740	154602	rs548967488	0.0024	0.0025	0.0013	0.0035	0.0389	0.0023	0.0023	0.0378	0.0373	6.081e-05	4.646e-05	0	5.089e-05	0	0.0011	3.545e-05	0.0027	0.0389	0.0014	0.0014	0.0008	0.0020	0.0420	0.0012	0.0012	0.0373	0.0354	4.816e-05	0	0.0003	0	0	0	0	1.47e-05	0.0005	0.0420	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999169	0.46223	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.633668	0.00091	T	-0.652297	0.08794	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.282352	0.65240	24.8	0.89911069587070203	0.19211	0.55140	0.29790	D	AEFBI	.	.	.	0.513817084803782	0.67908	5.144661	0.184817757327726	0.49015	3.109891	6.115606745523E-5	0.04366	0.06567	0.01388	0	0.063388	0.01293	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0857639	0.19525	3.1	3.1	0.34780	2.760000	0.47262	0.094000	0.14556	0.487000	0.22268	0.898000	0.31380	0.000000	0.08366	0.046000	0.14843	0.0:0.0:1.0:0.0	9.558	0.38518	441	0.80015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1302.98	35	chr1	47067668	.	G	T	1302.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.164;DP=816;ExcessHet=0.0000;FS=3.434;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=0.123;SOR=0.422	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr1	47068677	47068677	G	T	exonic	CYP4Z1	.	nonsynonymous SNV	CYP4Z1:NM_178134:exon2:c.G233T:p.C78F,	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.998	D	0.942	D	0.029	U	0.997	N	0.975	L	-0.31	T	-0.830	T	0.265	T	0.401	0.482	6.616	2.83	1.581	3.993	9.276	0.168	0.00343735832487	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.691	0.04289	T	0.695	0.05825	T	0.998	0.73220	D	0.942	0.67772	D	0.029331	0.25470	U	0.305869	0.996905	0.22861	N	1.87	0.49600	L	-0.31	0.68030	T	-2.02	0.46503	N	0.426	0.46555	-0.8303	0.53282	T	0.265	0.63630	T	10	0.31479478	0.48917	T	0.003437	0.07755	T	0.168	0.42943	0.255	0.19533	0.483670899158	0.47999	0.3433297364309384	0.34245	0.0796842656283	0.08968	0.365582019091	0.20196	T	0.015771	0.13166	T	-0.0564041	0.43466	T	-0.318797	0.42706	T	0.649656653404236	0.38447	D	0.158684	0.01414	T	0.19412911	0.41151	0.14794268	0.34991	0.19412911	0.41151	0.14794268	0.34990	-3.807	0.20909	T	.	.	0.135	0.29255	B	.	.	2.814133	0.37057	20.4	0.82719912944435248	0.14339	0.90590	0.51892	D	AEFGBI	0.256679	0.37556	N	0.0156972215958806	0.42570	2.567372	-0.0814783398956545	0.36155	2.100578	1.81307151160965E-4	0.05844	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.83	2.83	0.32150	2.819000	0.47749	3.158000	0.36555	0.487000	0.22268	0.995000	0.38783	0.964000	0.29435	0.017000	0.10941	0.0:0.0:1.0:0.0	9.276	0.36859	445	0.79730	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1214.98	33	chr1	47068677	.	G	T	1214.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.610e-01;DP=811;ExcessHet=0.0000;FS=2.334;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.88;ReadPosRankSum=-3.110e-01;SOR=0.481	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1421	20	0	1	0
chr1	47068721	47068721	G	C	exonic	CYP4Z1	.	nonsynonymous SNV	CYP4Z1:NM_178134:exon2:c.G277C:p.V93L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.509	P	0.091	B	0.001	U	1.000	N	-0.1	N	-0.23	T	-0.961	T	0.080	T	0.188	0.324	5.759	-1.32	-0.401	0.297	6.017	0.070	0.00571534932451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.104e-06	4.104e-06	1.361e-06	6.876e-06	4.496e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.15047	T	0.51	0.10821	T	0.509	0.37289	P	0.091	0.29943	B	0.000947	0.40932	U	0.090083	1	0.08975	N	0.03	0.08032	N	-0.23	0.66652	T	-1.05	0.27463	N	0.231	0.25989	-0.9608	0.39031	T	0.080	0.31645	T	10	0.090660125	0.15813	T	0.005715	0.14802	T	0.070	0.20419	0.473	0.54859	0.0806252709748	0.07271	0.2668899465471789	0.26601	0.0458377948792	0.04975	0.368731021881	0.20650	T	0.013776	0.11851	T	-0.189012	0.22402	T	-0.509279	0.21390	T	0.257878750562668	0.23222	T	0.382662	0.09313	T	0.08081742	0.18537	0.05224828	0.08571	0.08081742	0.18537	0.05224828	0.08571	-3.037	0.10585	T	.	.	0.284	0.51643	B	.	.	-0.165280	0.03273	0.559	0.69174482232073065	0.08889	0.03040	0.07930	N	AEFGBI	0.031761	0.03458	N	-1.21325579638106	0.04806	0.2177248	-1.2755025284839	0.04763	0.2254833	8.87275919477301E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.83	-1.32	0.08721	0.142000	0.15917	-2.998000	0.03154	-0.292000	0.06281	0.075000	0.22209	0.000000	0.08366	0.314000	0.24830	0.5253:0.0:0.4747:0.0	6.017	0.18838	445	0.79730	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1524.98	33	chr1	47068721	.	G	C	1524.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.920e-01;DP=848;ExcessHet=0.0000;FS=1.284;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=1.98;SOR=0.572	GT:AD:DP:GQ:PL	0/1:86,67:153:99:1539,0,2185	20	0	1	0
chr1	47439172	47439172	G	C	exonic	FOXD2	.	nonsynonymous SNV	FOXD2:NM_004474:exon1:c.G1037C:p.G346A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.001	B	0.001	B	0.206	N	1.000	N	0.205	N	-3.0	D	-0.445	T	0.515	D	0.138	0.116	4.625	1.73	1.902	0.411	6.518	0.256	0.976262266371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.14064	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.205977	0.03353	N	1.661150	1	0.08975	N	0.805	0.20218	L	-3.0	0.92158	D	0.06	0.06253	N	0.131	0.12627	-0.4446	0.70578	T	0.515	0.81830	D	10	0.25144333	0.42484	T	0.976262	0.99866	D	0.256	0.56694	0.306	0.27646	0.971106889586	0.97080	0.33045116139809383	0.32958	.	.	0.868490815163	0.92352	D	0.025614	0.19119	T	-0.0829024	0.39242	T	-0.35686	0.38415	T	0.0892492979764938	0.11128	T	0.492651	0.15191	T	0.08762064	0.20410	0.083875395	0.19254	0.08762064	0.20409	0.083875395	0.19254	-5.282	0.39764	T	.	.	0.085	0.10159	B	.	.	2.053571	0.26105	17.00	0.83724423146799842	0.14884	0.18505	0.20288	N	AEFDBCI	0.083780	0.16974	N	-0.688216476091839	0.16356	0.8325986	-0.57859329176684	0.20052	1.078604	0.999959230800535	0.48110	0.59774	0.34471	0	0.627178	0.54094	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.76	1.73	0.23565	0.285000	0.18642	6.061000	0.53172	0.566000	0.28629	0.007000	0.17678	1.000000	0.68203	0.678000	0.33484	0.1132:0.1895:0.6973:0.0	6.518	0.21453	707	0.57054	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05556	56.66	22	chr1	47439172	.	G	C	56.66	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-5.890e-01;DP=418;ExcessHet=0.0000;FS=25.206;InbreedingCoeff=-0.2074;MLEAC=2;MLEAF=0.111;MQ=60.00;MQRankSum=0.00;QD=3.15;ReadPosRankSum=1.29;SOR=4.974	GT:AD:DP:GQ:PL	./.:20,0:20:0:0,0,298	8	0	1	12
chr1	47775321	47775321	C	T	exonic	TRABD2B	.	nonsynonymous SNV	TRABD2B:NM_001194986:exon6:c.G1198A:p.D400N,	.	.	.	.	.	.	.	.	.	.	.	2754618	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139893701245	.	0.000399361	0	0	0	0	0	0	0	0	6.47e-05	10	154602	rs569339407	0.0002	0.0002	0.0002	0.0002	0.0023	0.0002	0.0002	0.0012	0.0009	0.0001	0.0005	6.825e-05	0	0	0.0023	0.0002	0.0005	0	0.0003	0.0003	0.0003	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0003	0.0003	0	0	0.0034	0.0003	0.0005	0	.	.	.	0.451	0.12920	T	.	.	.	.	.	.	.	.	.	.	0.987184	0.24543	N	0	0.06538	N	.	.	.	.	.	.	0.144	0.14480	.	.	.	.	.	.	.	0.037205607	0.02062	T	0.139894	0.82236	D	.	.	.	.	0.154104182512	0.14974	0.14994451787925078	0.14916	0.900604418426	0.70619	0.519370555878	0.41538	T	0.00342	0.02829	T	-0.546301	0.00307	T	-0.607941	0.12152	T	.	.	.	0.438556	0.12074	T	0.049699068	0.08865	0.114170164	0.27556	0.049699068	0.08865	0.114170164	0.27556	-6.362	0.49212	T	.	.	0.078	0.06942	B	.	.	2.776050	0.36451	20.3	0.99031115636619194	0.50808	0.93184	0.57545	D	AEFDBHCI	0.647935	0.62293	D	.	.	.	.	.	.	0.999905960337677	0.45458	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	6.04	5.13	0.69729	4.472000	0.59921	5.928000	0.51272	-0.173000	0.11020	1.000000	0.71638	1.000000	0.68203	0.551000	0.30197	0.0:0.9311:0.0:0.0689	14.683	0.68643	525	0.74024	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1164.98	41	chr1	47775321	.	C	T	1164.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=802;ExcessHet=0.0000;FS=1.646;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=-7.730e-01;SOR=0.511	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1297	20	0	1	0
chr1	49851452	49851452	C	A	exonic	AGBL4	.	nonsynonymous SNV	AGBL4:NM_001323573:exon2:c.G101T:p.G34V	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998	D	0.945	D	0.000	D	1.000	D	2.71	M	1.4	T	-0.742	T	0.159	T	0.712	3.415	17.54	4.15	2.344	3.279	9.229	0.280	0.0845270753052	0.0022	0.00119808	0.0006	0.0060	0	0	0	0	0	0	0.0001294	20	154602	rs182850756	0.0001	0.0001	0.0002	0.0001	0.0053	0.0001	0.0001	0.0047	0.0044	0.0053	0.0003	0	0	0	0.0002	6.491e-06	0.0002	0	0.0014	0.0014	0.0015	0.0012	0.0048	0.0012	0.0011	0.0042	0.0040	0.0048	0	0.0005	0	0	0	0	0	0.0005	0	0.001	0.78490	D	0.005	0.83351	D	0.998	0.73220	D	0.945	0.68163	D	0.000149	0.49130	D	0.081669	1	0.81001	D	1.78	0.46185	L	1.4	0.33630	T	-5.3	0.90411	D	0.552	0.62781	-0.7415	0.58376	T	0.159	0.49228	T	9	0.0124979615	0.00268	T	0.084527	0.74345	D	0.280	0.59740	.	.	0.298403945805	0.29456	0.7036919565012681	0.70310	0.599678572617	0.55079	0.568824470043	0.48512	T	0.088421	0.38154	T	-0.286807	0.09958	T	-0.183802	0.56169	T	0.120097267693209	0.14440	T	0.787021	0.42574	T	0.7581082	0.81341	0.58794624	0.76098	0.7581082	0.81343	0.58794624	0.76099	-6.342	0.49055	T	.	.	0.217	0.56191	B	.;.;.	.;.;.	4.383760	0.67590	25.1	0.9972734477320766	0.82477	0.95328	0.64293	D	AEFI	0.595127	0.58979	D	0.600276557248543	0.73191	5.926224	0.540220668543127	0.70721	5.546821	2.07147373058915E-4	0.05948	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.07	4.15	0.47978	3.425000	0.52535	5.842000	0.50257	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.7692:0.1485:0.0822	9.229	0.36589	592	0.68746	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	785.98	36	chr1	49851452	.	C	A	785.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.440e-01;DP=790;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.41;ReadPosRankSum=0.515;SOR=0.769	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr1	50419077	50419077	A	T	exonic	DMRTA2	.	nonsynonymous SNV	DMRTA2:NM_032110:exon3:c.T1217A:p.L406Q,	.	.	338	1164	19	1	0	21	0.00893997	.	.	1328078	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.64	T	0.968	D	0.452	P	0.096	N	0.605	N	0.69	N	1.46	T	-1.122	T	0.003	T	0.405	3.388	17.43	3.19	1.440	3.671	10.118	0.098	.	.	.	0.0033	0	0	0	.	0.0217	0	0.0019	0.0002135	33	154602	rs184374125	0.0035	0.0030	0.0035	0.0036	0.0122	0.0035	0.0034	0.0091	0.0080	0.0004	0.0051	0.0022	0	0.0003	0.0122	0.0037	0.0042	0.0032	0.0026	0.0026	0.0026	0.0026	0.0040	0.0024	0.0023	0.0036	0.0035	0.0008	0	0.0035	0.0017	0	0.0004	0.0139	0.0040	0.0058	0.0025	0.215	0.19293	T	0.575	0.08654	T	0.968	0.56581	D	0.452	0.46163	P	0.096254	0.20085	N	0.261257	0.605196	0.30907	N	1.24	0.30952	L	1.46	0.32238	T	0.47	0.03090	N	0.325	0.36569	-1.1222	0.02197	T	0.003	0.00994	T	10	0.006879717	0.00156	T	.	.	.	0.098	0.28162	.	.	0.386234084001	0.38240	0.48112459390252194	0.48032	.	.	0.894849002361	0.95850	D	0.013539	0.11689	T	-0.46439	0.00922	T	-0.439985	0.28810	T	0.0531151546423992	0.06039	T	0.561144	0.19645	T	0.19138479	0.40763	0.24172303	0.49576	0.19138479	0.40763	0.24172303	0.49575	-5.351	0.40445	T	.	.	0.085	0.14431	B	.;.	.;.	2.922365	0.38803	20.8	0.9423790608236714	0.24499	0.94754	0.62215	D	AEFDBCI	0.413626	0.48322	N	-0.0920958920621304	0.37738	2.199965	-0.0951735304783025	0.35588	2.060809	0.998556655596953	0.37186	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.19	3.19	0.35720	1.171000	0.31505	8.183000	0.76780	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.612000	0.31691	1.0:0.0:0.0:0.0	10.118	0.41774	560	0.71333	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	568.98	19	chr1	50419077	.	A	T	568.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.976e+00;DP=621;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=-2.008e+00;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1148	20	0	1	0
chr1	50419106	50419106	G	0	exonic	DMRTA2	.	.	.	.	.	453	9	255	719	86	1779	0.98948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	13423.2	21	chr1	50419106	.	G	*,A	13423.2	.	AC=12,30;AF=0.286,0.714;AN=42;BaseQRankSum=-4.990e-01;DP=670;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=12,30;MLEAF=0.286,0.714;MQ=59.92;MQRankSum=0.00;QD=23.55;ReadPosRankSum=-7.700e-01;SOR=0.979	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,12,7:19:99:1|0:50419101_CCGGCGG_C:962,273,342,515,0,471:50419101	0	2	0	0
chr1	51463782	51463782	T	C	exonic	EPS15	.	nonsynonymous SNV	EPS15:NM_001981:exon7:c.A392G:p.K131R,	.	.	452	1068	2	0	0	2	0.000935454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	1.0	D	0.999	D	.	.	1.000	D	1.785	L	1.32	T	-0.900	T	0.170	T	0.331	3.612	18.38	2.76	0.837	5.746	10.192	0.136	0.0224904223016	0.0010	0.000798722	0.0003	0.0029	8.675e-05	0	0	6.03e-05	0	0	0.0002717	42	154602	rs147146180	0.0001	0.0001	0.0001	0.0001	0.0043	0.0001	0.0001	0.0037	0.0035	0.0043	4.581e-05	3.871e-05	2.535e-05	0	0.0002	2.179e-05	0.0005	1.194e-05	0.0012	0.0012	0.0012	0.0012	0.0041	0.0010	0.0010	0.0036	0.0034	0.0041	0	0.0002	0	0.0006	0	0	2.94e-05	0.0005	0	0.071	0.39820	T	0.039	0.52060	D	0.892	0.90584	P	0.652	0.92359	P	.	.	.	.	1	0.81001	D	1.28	0.32218	L	1.32	0.35219	T	-2.46	0.53736	N	0.458	0.61849	-0.9004	0.47952	T	0.170	0.51101	T	9	0.013610572	0.00288	T	0.02249	0.45384	T	0.136	0.36778	.	.	0.690292029307	0.68763	0.5312679049268713	0.53050	0.45731366189	0.45371	0.507613658905	0.39889	T	0.042702	0.53473	T	-0.404318	0.02168	T	-0.353147	0.38844	T	0.0576097135406733	0.06787	T	0.866213	0.56644	D	0.09391918	0.22070	0.14258435	0.33916	0.09391918	0.22070	0.14258435	0.33915	-7.66	0.58729	D	.	.	0.122	0.25429	B	.;.	.;.	4.347822	0.66758	25.0	0.9985042191154565	0.93013	0.90725	0.52143	D	AEDGBHCIJ	.	.	.	0.377421480836539	0.60199	4.206403	0.313542104769689	0.56335	3.79667	0.999932967984587	0.46732	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	3.91	2.76	0.31527	6.266000	0.72505	4.185000	0.42364	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.1678:0.8322	10.192	0.42208	427	0.81056	EH domain|EH domain|EH domain;EH domain|EH domain|EH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	579.98	34	chr1	51463782	.	T	C	579.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.870e-01;DP=727;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=-8.930e-01;SOR=0.719	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1027	20	0	1	0
chr1	52055094	52055094	C	T	exonic	TXNDC12	.	startloss	TXNDC12:NM_015913:exon1:c.G3A:p.M1?,	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.0	B	0.0	B	0.084	N	1.000	D	.	.	0.99	T	-1.043	T	0.089	T	0.54	1.849	12.14	4.07	1.419	2.419	11.366	0.211	0.0224398896027	.	.	8.479e-06	0	0	0	0	1.547e-05	0	0	2.59e-05	4	154602	rs748632235	4.586e-05	4.652e-05	3.678e-05	5.504e-05	0.0002	3.664e-05	3.349e-05	4.354e-05	3.947e-05	0	0	0	0	0	0.0002	5.49e-05	8.283e-05	0	2.627e-05	2.626e-05	3.853e-05	1.345e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.212	0.19500	T	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	0.084255	0.20707	N	0.528749	1	0.81001	D	.	.	.	0.99	0.41750	T	-0.11	0.08653	N	0.573	0.64989	-1.0431	0.16383	T	0.089	0.34243	T	9	0.5260322	0.62914	D	0.02244	0.45329	T	0.211	0.50185	0.536	0.64585	0.482209950775	0.47853	0.839437642731608	0.83903	.	.	.	.	.	0.017723	0.14410	T	-0.221833	0.17743	T	-0.351874	0.38991	T	0.397491425275803	0.28847	T	0.9	0.65058	D	0.45704123	0.64487	0.42143875	0.66076	0.45704123	0.64488	0.42143875	0.66076	-10.795	0.78521	D	.	.	.	.	.	.;.	.;.	3.444697	0.47939	22.5	0.97697118446044218	0.35412	0.89542	0.50073	D	ALL	0.038054	0.05327	N	-0.251410239165695	0.31046	1.737063	-0.152981540640115	0.33294	1.902987	0.999999999999943	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.01	4.07	0.46726	2.448000	0.44584	3.104000	0.36331	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.187000	0.21511	0.0:0.8169:0.1831:0.0	11.366	0.48910	477	0.77662	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1028.98	37	chr1	52055094	.	C	T	1028.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.245;DP=808;ExcessHet=0.0000;FS=3.116;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=0.993;SOR=1.091	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1269	20	0	1	0
chr1	52238481	52238481	G	A	exonic	ZFYVE9	.	nonsynonymous SNV	ZFYVE9:NM_004799:exon4:c.G1064A:p.C355Y	.	.	430	1078	14	0	0	14	0.00645161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.631	P	0.332	B	0.849	N	1.000	N	0.55	N	0.8	T	-1.019	T	0.062	T	0.305	-0.827	0.606	0.501	0.190	1.106	5.226	0.036	0.00745861454519	0.0015	0.00119808	0.0017	0.0005	0.0009	0	0.0041	0.0023	0.0011	0.0009	0.00163	252	154602	rs150425258	0.0015	0.0015	0.0014	0.0016	0.0111	0.0015	0.0014	0.0089	0.0081	0.0006	0.0011	0.0161	0	0.0021	0.0111	0.0012	0.0025	0.0011	0.0018	0.0018	0.0018	0.0018	0.0022	0.0016	0.0015	0.0016	0.0014	0.0003	0.0077	0.0022	0.0150	0	0.0031	0.0102	0.0018	0.0033	0.0008	0.053	0.41096	T	0.394	0.16134	T	0.148	0.30574	B	0.049	0.31143	B	0.848682	0.07043	N	1.077970	1	0.08975	N	0.895	0.22405	L	0.8	0.48769	T	-1.74	0.41239	N	0.287	0.40264	-1.0194	0.23910	T	0.062	0.25815	T	10	0.0066120327	0.00150	T	0.007459	0.19792	T	0.036	0.09122	.	.	0.128874641272	0.12493	0.19580028617862139	0.19497	0.191457487141	0.21472	0.302525669336	0.10778	T	0.009153	0.08348	T	-0.452483	0.01092	T	-0.43	0.29935	T	0.010937583888807	0.00157	T	0.529847	0.17555	T	0.06562438	0.14042	0.09003683	0.21091	0.06562438	0.14041	0.09003683	0.21090	-3.876	0.21943	T	.	.	0.070	0.17573	B	.;.;.	.;.;.	1.239124	0.16346	12.48	0.67762937216443309	0.08452	0.26054	0.22881	N	AEFDGBCI	0.072578	0.14489	N	-0.574075614779124	0.19735	1.035197	-0.577896067599742	0.20069	1.079664	0.999999986388764	0.74766	0.730579	0.87903	0	0.588066	0.40923	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	4.88	0.501	0.16130	1.142000	0.31152	1.584000	0.27491	0.676000	0.76740	0.899000	0.31403	0.356000	0.24496	0.581000	0.30918	0.2596:0.2835:0.4569:0.0	5.226	0.14714	335	0.86220	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1646.98	40	chr1	52238481	.	G	A	1646.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.771;DP=921;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=-2.200e-02;SOR=0.760	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1069	20	0	1	0
chr1	52238879	52238879	G	T	exonic	ZFYVE9	.	nonsynonymous SNV	ZFYVE9:NM_004799:exon4:c.G1462T:p.V488F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.96	D	0.504	P	0.079	N	0.850	D	0.805	L	0.66	T	-0.847	T	0.133	T	0.325	2.174	13.23	2.26	0.734	1.553	8.669	0.116	0.0357224421694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.568e-06	6.562e-06	0	1.343e-05	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.001	0.78490	D	0.169	0.30534	T	0.933	0.55278	P	0.307	0.47761	B	0.079388	0.20987	N	0.376195	0.849958	0.35205	D	0.975	0.24501	L	0.66	0.54540	T	-2.07	0.47344	N	0.212	0.37613	-0.8467	0.52195	T	0.133	0.44524	T	10	0.16734391	0.31224	T	0.035722	0.56534	D	0.116	0.32463	0.072	0.00442	0.0675242888579	0.06100	0.3204716920825338	0.31960	0.3725497707	0.38744	0.445590794086	0.31342	T	0.010362	0.09360	T	-0.0747307	0.40567	T	-0.345122	0.39764	T	0.582549247169905	0.35717	D	0.885811	0.61165	D	0.17589852	0.38474	0.15219906	0.35819	0.17589852	0.38473	0.15219906	0.35819	-3.995	0.23729	T	.	.	0.068	0.19679	B	.;.;.	.;.;.	2.443070	0.31445	18.74	0.992707790190826	0.57559	0.56401	0.30107	D	AEFDGBCIJ	0.112885	0.22296	N	-0.127336797398299	0.36205	2.089604	-0.0540156029105646	0.37317	2.18331	0.999992540603498	0.74766	0.730579	0.87903	0	0.480063	0.06835	0	0.658983	0.55881	0	0.648885	0.59868	0	.	.	5.57	2.26	0.27418	1.629000	0.36683	3.881000	0.40240	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.2149:0.1144:0.6707:0.0	8.669	0.33303	335	0.86220	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	64.1	40	chr1	52238879	.	G	T	64.1	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.078e+00;DP=888;ExcessHet=0.1072;FS=104.859;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.34;ReadPosRankSum=-2.710e-01;SOR=7.111	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1069	19	0	2	0
chr1	52357050	52357050	G	A	exonic	CC2D1B	.	nonsynonymous SNV	CC2D1B:NM_001330585:exon16:c.C1829T:p.A610V	.	.	432	1085	5	0	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.059	B	0.016	B	0.000	N	1.000	D	1.905	M	1.59	T	-0.508	T	0.337	T	0.29	1.858	12.17	4.73	0.953	5.830	16.767	0.148	0.00965240391395	.	0.000199681	0.0013	0.0002	0.0011	0	0.0069	0.0008	0.0063	0.0023	0.0004981	77	154602	rs201266966	0.0004	0.0004	0.0004	0.0004	0.0026	0.0004	0.0004	0.0016	0.0013	6.012e-05	0.0006	3.886e-05	2.55e-05	0.0022	0.0026	0.0003	0.0004	0.0011	0.0004	0.0004	0.0002	0.0006	0.0004	0.0003	0.0003	0.0002	0.0002	4.817e-05	0	0.0002	0	0	0.0030	0.0034	0.0003	0.0005	0.0004	0.078	0.33923	T	0.112	0.37173	T	0.024	0.21357	B	0.008	0.17743	B	0.000082	0.51296	N	0.170245	0.981815	0.81001	D	2.11	0.58565	M	1.59	0.28836	T	-2.23	0.51646	N	0.322	0.36254	-0.5078	0.68367	T	0.337	0.70354	T	10	0.0074935555	0.00170	T	0.009652	0.25222	T	0.148	0.39182	.	.	0.420199648628	0.41636	0.389538318633259	0.38868	0.0301158641719	0.03106	0.444210350513	0.31153	T	0.007018	0.06441	T	-0.434223	0.01399	T	-0.442059	0.28579	T	0.0406082166850478	0.03802	T	0.742826	0.36203	T	0.09857615	0.23254	0.12281261	0.29620	0.09857615	0.23253	0.12281261	0.29619	-9.57	0.71294	D	.	.	0.136	0.29477	B	.;.	.;.	3.506498	0.49089	22.7	0.98450645900385969	0.41620	0.94527	0.61454	D	AEFDBCI	0.689668	0.65026	D	-0.120600201048397	0.36496	2.110374	-0.101077152105388	0.35348	2.043919	0.999613328366353	0.40981	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.65	4.73	0.59485	6.113000	0.71239	8.596000	0.77707	-0.104000	0.15758	1.000000	0.71638	1.000000	0.68203	0.286000	0.24163	0.0692:0.0:0.9308:0.0	16.767	0.85387	355	0.85216	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	828.98	34	chr1	52357050	.	G	A	828.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=772;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=-8.530e-01;SOR=0.670	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1093	20	0	1	0
chr1	52361541	52361546	TCCTCC	-	exonic	CC2D1B	.	nonframeshift deletion	CC2D1B:NM_001330585:exon4:c.285_290del:p.E96_E97del	.	.	395	1107	16	4	0	24	0.0107239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0777	0.00698882	0.0068	0.0008	0.0058	0	0.0011	0.0074	0.0094	0.0146	0.0047641	124	26028	rs530661837	0.0077	0.0077	0.0075	0.0079	0.0137	0.0076	0.0075	0.0124	0.0121	0.0010	0.0064	0.0041	0	0.0011	0.0137	0.0082	0.0078	0.0130	0.0058	0.0058	0.0064	0.0051	0.0128	0.0055	0.0053	0.0102	0.0093	0.0015	0	0.0071	0.0064	0	0.0010	0	0.0089	0.0057	0.0128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2059.07	40	chr1	52361540	.	TTCCTCC	T	2059.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.268;DP=849;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=2.33;SOR=0.649	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	19	0	2	0
chr1	52385197	52385197	T	C	exonic	ORC1	.	nonsynonymous SNV	ORC1:NM_001190818:exon10:c.A1547G:p.N516S	Meier-Gorlin syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1387113	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.66	T	0.007	B	0.004	B	0.000	N	0.988	D	0.075	N	0.5	T	-1.082	T	0.059	T	0.239	0.821	8.305	0.404	0.124	1.097	6.471	0.036	0.0053146638039	.	.	4.119e-05	0	0	0	0	7.493e-05	0	0	3.88e-05	6	154602	rs764441009	2.394e-05	2.394e-05	2.859e-05	1.925e-05	2.788e-05	1.739e-05	1.539e-05	1.998e-05	1.741e-05	0	2.236e-05	3.827e-05	2.519e-05	0	0	2.788e-05	1.656e-05	0	6.574e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.618	0.05341	T	1.0	0.01155	T	0.007	0.14184	B	0.004	0.10090	B	0.000215	0.47681	N	0.296501	0.988092	0.40703	D	0.955	0.23872	L	0.5	0.55608	T	0.1	0.05810	N	0.158	0.16725	-1.0822	0.06927	T	0.059	0.24834	T	10	0.10159597	0.18573	T	0.005315	0.13587	T	0.036	0.09122	0.305	0.27485	0.545045102275	0.54158	0.14096665721331053	0.14019	0.120071493571	0.13520	0.304356962442	0.11054	T	0.006982	0.06403	T	-0.28416	0.10232	T	-0.460049	0.26594	T	0.0169686401217248	0.00447	T	0.911709	0.68653	D	0.045984738	0.07621	0.04196151	0.04891	0.045984738	0.07620	0.04196151	0.04890	-4.804	0.34638	T	0.15175776788358813	0.17927	0.059	0.00979	B	.;.	.;.	1.415923	0.18319	13.67	0.83592870932581398	0.14811	0.79086	0.39124	D	AEGBCI	0.151979	0.27657	N	-0.610593395629235	0.18625	0.9684874	-0.421357156893997	0.24372	1.334214	0.00744567541271402	0.11467	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.95	0.404	0.15574	1.096000	0.30587	-0.796000	0.07394	0.665000	0.62972	0.998000	0.41325	0.013000	0.20296	0.995000	0.73285	0.111:0.211:0.0:0.6781	6.471	0.21209	328	0.86572	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	596.98	40	chr1	52385197	.	T	C	596.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.096;DP=783;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.96;ReadPosRankSum=0.261;SOR=0.770	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1233	20	0	1	0
chr1	52388507	52388507	A	G	exonic	ORC1	.	nonsynonymous SNV	ORC1:NM_001190818:exon8:c.T1318C:p.S440P	Meier-Gorlin syndrome 1, Autosomal recessive	.	0	1501	21	0	0	21	0.00694674	.	.	206827	not_specified|not_provided|Meier-Gorlin_syndrome_1|ORC1-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690,Orphanet:2554|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.13	T	0.009	B	0.004	B	0.042	N	1.000	N	2.125	M	0.92	T	-0.999	T	0.098	T	0.068	1.415	10.67	1.62	0.472	0.633	5.944	0.030	0.0185297104005	0.0008	0.000599042	0.0010	0	0.0011	0	0	0.0015	0.0011	0.0004	0.0009508	147	154602	rs61756136	0.0008	0.0008	0.0008	0.0008	0.0243	0.0007	0.0007	0.0210	0.0198	0.0010	0.0010	0.0111	0	0	0.0243	0.0004	0.0020	0.0005	0.0007	0.0007	0.0007	0.0008	0.0006	0.0006	0.0006	0.0005	0.0004	0.0001	0	0.0004	0.0121	0	0	0.0272	0.0006	0.0033	0.0004	0.125	0.27310	T	0.32	0.19131	T	0.004	0.12183	B	0.004	0.10090	B	0.042374	0.23849	N	0.494740	1	0.08975	N	1.87	0.49600	L	0.92	0.44461	T	-1.41	0.34795	N	0.124	0.11626	-0.9990	0.30199	T	0.098	0.36574	T	10	0.0057105124	0.00127	T	0.01853	0.40624	T	0.030	0.07022	.	.	0.587237122171	0.58398	0.25256944780878465	0.25170	0.194102247817	0.21745	0.322320342064	0.13772	T	0.010693	0.09633	T	-0.576981	0.00201	T	-0.657917	0.08407	T	0.016554256227503	0.00417	T	0.381962	0.09278	T	0.08758318	0.20401	0.12720059	0.30622	0.06461894	0.13727	0.10046435	0.24020	-4.604	0.32222	T	0.14114231293540486	0.15853	0.070	0.04159	B	.;.	.;.	1.090858	0.14746	11.29	0.97129354977857185	0.32490	0.33404	0.24820	N	AEFBCI	0.165120	0.29158	N	-0.657915838409515	0.17230	0.8848559	-0.689436449381859	0.17224	0.9149039	0.00212681252848113	0.09174	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.31	1.62	0.22817	0.636000	0.24333	1.064000	0.23746	0.691000	0.84096	0.296000	0.25288	0.076000	0.22303	0.010000	0.09038	0.6859:0.1506:0.1635:0.0	5.944	0.18446	327	0.86637	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	876.98	36	chr1	52388507	.	A	G	876.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.843e+00;DP=739;ExcessHet=0.0000;FS=1.110;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.95;ReadPosRankSum=0.115;SOR=0.456	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1157	20	0	1	0
chr1	52393719	52393719	G	A	exonic	ORC1	.	nonsynonymous SNV	ORC1:NM_001190818:exon6:c.C806T:p.S269L	Meier-Gorlin syndrome 1, Autosomal recessive	.	0	1506	15	1	0	17	0.00561241	.	.	135310	not_provided|ORC1-related_disorder|not_specified|Meier-Gorlin_syndrome_1	MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690,Orphanet:2554	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.76	P	0.335	N	1.000	N	2.125	M	0.84	T	-0.880	T	0.170	T	0.234	2.356	13.84	4.3	1.388	2.495	11.560	0.105	.	0.0055	0.00379393	0.0056	0.0010	0.0014	0.0001	0.0195	0.0068	0.0088	0.0034	0.0058149	899	154602	rs61753390	0.0088	0.0088	0.0088	0.0087	0.0096	0.0087	0.0086	0.0095	0.0094	0.0015	0.0020	0.0011	5.038e-05	0.0216	0.0017	0.0096	0.0075	0.0038	0.0064	0.0064	0.0058	0.0070	0.0078	0.0060	0.0059	0.0072	0.0070	0.0014	0.0011	0.0043	0.0020	0.0002	0.0256	0.0137	0.0078	0.0057	0.0044	0.002	0.72154	D	0.011	0.64786	D	0.988	0.62325	D	0.525	0.48375	P	0.335270	0.14049	N	0.706961	0.99999	0.08975	N	2.655	0.77738	M	0.84	0.47477	T	-2.1	0.47852	N	0.299	0.33796	-0.8804	0.49730	T	0.170	0.51003	T	10	0.006951213	0.00158	T	.	.	.	0.105	0.29889	.	.	0.717440945425	0.71495	0.29575038545814014	0.29488	0.359641817996	0.37656	0.304480731487	0.11073	T	0.104097	0.41336	T	-0.46889	0.00864	T	-0.438343	0.28995	T	0.0258521919382443	0.01386	T	0.727827	0.34232	T	0.061225154	0.12653	0.09836881	0.23449	0.06833098	0.14877	0.09836881	0.23448	-4.571	0.31805	T	0.2795889446075671	0.37467	0.078	0.06849	B	.;.	.;.	3.291582	0.45147	22.1	0.99731349627309274	0.82761	0.50716	0.28727	D	AEFBCI	0.121702	0.23650	N	0.110104641492151	0.46933	2.92625	-0.0257266700589197	0.38557	2.273296	0.664343366118484	0.22305	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.24	4.3	0.50540	2.543000	0.45411	4.319000	0.42992	-0.104000	0.15758	0.748000	0.29111	1.000000	0.68203	0.099000	0.18236	0.0:0.1797:0.8203:0.0	11.560	0.50023	329	0.86514	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1473.98	35	chr1	52393719	.	G	A	1473.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.05;DP=782;ExcessHet=0.0000;FS=1.762;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.52;ReadPosRankSum=0.231;SOR=0.933	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr1	52488985	52488985	G	A	exonic	TUT4	.	nonsynonymous SNV	TUT4:NM_001009881:exon9:c.C1439T:p.T480I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.965	D	0.000	D	1.000	D	2.935	M	1.16	T	-0.381	T	0.288	T	0.908	4.920	28.4	5.51	2.589	9.476	18.995	0.735	0.0205855027564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.79e-06	4.788e-06	6.808e-06	2.751e-06	6.296e-06	1.99e-06	1.28e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.296e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.996	0.68779	D	0.874	0.62049	P	0.000000	0.84330	D	0.048360	0.99994	0.51968	D	2.28	0.64929	M	1.16	0.38073	T	-4.43	0.79316	D	0.914	0.96758	-0.3811	0.72617	T	0.288	0.65968	T	10	0.8445309	0.83615	D	0.020586	0.43215	T	0.735	0.90764	0.549	0.66436	0.579110393632	0.57581	0.8094175587795261	0.80896	0.599033245767	0.55049	0.730292916298	0.71549	T	0.468741	0.80255	T	0.286038	0.81827	D	0.173097	0.81594	D	0.995914161205292	0.88308	D	0.964404	0.86792	D	0.8492712	0.87281	0.75514716	0.85529	0.8492712	0.87282	0.75514716	0.85530	-12.981	0.89285	D	.	.	0.991	0.96282	P	.;.;.;.	.;.;.;.	5.130846	0.85864	28.7	0.99922356442543148	0.98852	0.99063	0.90684	D	AEFBI	0.871641	0.79314	D	0.9365666150454	0.93433	12.036	0.90128059646785	0.95627	13.80685	0.999999999811045	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.51	5.51	0.81769	9.602000	0.97623	11.817000	0.97118	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.995	0.92787	278	0.89047	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	564.98	36	chr1	52488985	.	G	A	564.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.30;DP=744;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.91;ReadPosRankSum=0.394;SOR=0.641	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr1	52606945	52606945	C	T	exonic	GPX7	.	stopgain	GPX7:NM_015696:exon2:c.C400T:p.Q134X,	.	.	418	1102	2	0	0	2	0.000906618	0.0001	0.18	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	.	.	.	.	0.030	N	1.000	D	.	.	.	.	.	.	.	.	.	3.729	18.94	-4.16	-1.634	1.902	16.807	.	.	.	0.00159744	0.0005	0	8.642e-05	0.0001	0	1.504e-05	0.0022	0.0036	0.0004528	70	154602	rs201645639	0.0002	0.0002	0.0001	0.0003	0.0037	0.0002	0.0002	0.0034	0.0033	5.974e-05	0	0	0	0	0.0002	8.995e-06	0.0002	0.0037	0.0002	0.0002	0.0001	0.0002	0.0046	0.0001	9.232e-05	0.0031	0.0026	0	0	0	0	0	0	0	2.94e-05	0	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	0.029702	0.25414	N	0.448650	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.728	0.72925	.	.	.	.	.	.	.	.	.	.	0.002971	0.06339	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0476446	0.58037	T	0.293872	0.87901	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.111615	0.94587	34	0.92011612500299822	0.21348	0.60839	0.31311	D	AEFBI	0.465280	0.51342	N	0.106930697764784	0.46785	2.913692	-0.227879882738787	0.30541	1.720522	6.85012519288122E-4	0.07622	0.706298	0.61202	0	0.709663	0.81188	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.21	-4.16	0.03606	2.002000	0.40454	-0.064000	0.12386	0.549000	0.26987	0.989000	0.36753	0.000000	0.08366	0.501000	0.29039	0.0:0.5473:0.3699:0.0827	16.807	0.85572	219	0.91485	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2265.98	61	chr1	52606945	.	C	T	2265.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=1269;ExcessHet=0.0000;FS=0.574;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=-6.680e-01;SOR=0.756	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,111,1665	20	0	1	0
chr1	52633572	52633572	G	A	exonic	SHISAL2A	.	nonsynonymous SNV	SHISAL2A:NM_001042693:exon1:c.G79A:p.E27K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.994	D	0.668	P	0.039	U	0.933	D	0.345	N	.	.	-0.933	T	0.124	T	0.165	4.531	24.4	2.47	0.690	9.127	13.031	0.198	0.0144075445727	.	0.000399361	2.94e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs547378101	2.742e-06	2.736e-06	1.364e-06	4.133e-06	3.485e-05	6.4e-07	4.3e-07	9.26e-06	4.57e-06	0	0	0	0	0	0	0	1.659e-05	3.485e-05	1.97e-05	1.968e-05	0	4.028e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	0	0	0.0006	0.13	0.26740	T	0.151	0.32355	T	0.994	0.66517	D	0.668	0.53048	P	0.039331	0.24182	U	0.320381	0.933339	0.37051	D	.	.	.	.	.	.	-1.7	0.40468	N	0.234	0.26354	-0.9333	0.43650	T	0.124	0.42862	T	9	0.12950629	0.24642	T	0.014408	0.34508	T	0.198	0.48105	0.384	0.40298	0.110078149338	0.10416	0.610610862983082	0.60993	0.421847818605	0.42694	0.887109160423	0.94895	D	0.03854	0.24874	T	-0.217868	0.18285	T	-0.347129	0.39534	T	0.925468564033508	0.58720	D	0.835916	0.50694	T	0.25295836	0.48315	0.2637905	0.52190	0.25295836	0.48315	0.2637905	0.52189	-7.479	0.57463	T	.	.	0.325	0.54897	B	.	.	5.098496	0.85179	28.5	0.99870084524143332	0.94815	0.97733	0.76740	D	ALL	0.865806	0.78502	D	0.236433785899973	0.52972	3.468304	0.241909893282082	0.52189	3.395548	0.999999854023163	0.74766	0.437478	0.07067	0	0.552344	0.17405	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.44	2.47	0.29113	7.343000	0.78559	7.583000	0.61020	0.584000	0.30380	1.000000	0.71638	1.000000	0.68203	0.908000	0.44358	0.0:0.1639:0.836:0.0	13.031	0.58249	218	0.91525	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1001.98	35	chr1	52633572	.	G	A	1001.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.490e-01;DP=805;ExcessHet=0.0000;FS=1.573;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.63;ReadPosRankSum=1.97;SOR=0.879	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1027	20	0	1	0
chr1	52881544	52881544	T	C	exonic	ZYG11A	.	nonsynonymous SNV	ZYG11A:NM_001307931:exon10:c.T797C:p.L266S	.	.	425	1081	14	2	0	18	0.00825688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.415	M	0.44	T	-0.280	T	0.341	T	0.738	3.688	18.74	4.34	1.948	7.136	13.965	0.520	0.119215829707	0.0002	0.000199681	0.0017	0	0	0	0	0.0002	0	0.0047	0.0002652	41	154602	rs370602817	0.0003	0.0003	0.0002	0.0004	0.0035	0.0002	0.0002	0.0031	0.0030	0	0.0001	0	0	0	0.0016	6.117e-05	0.0004	0.0035	0.0002	0.0002	0.0001	0.0003	0.0039	0.0001	0.0001	0.0026	0.0021	9.626e-05	0	0	0	0	0	0	5.88e-05	0.0014	0.0039	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000007	0.62929	D	0.000000	0.999522	0.47407	D	3.125	0.87999	M	0.44	0.56609	T	-4.86	0.81269	D	0.889	0.88909	-0.2798	0.75546	T	0.341	0.70656	T	10	0.082211465	0.13543	T	0.119216	0.79946	D	0.520	0.79583	.	.	0.439870908748	0.43606	0.748083354308914	0.74754	.	.	0.520553827286	0.41704	T	0.202225	0.56033	T	-0.156518	0.27297	T	0.00060651	0.70375	D	0.227593173045639	0.21836	T	0.815218	0.46991	T	0.6880125	0.77404	0.55350214	0.74179	0.6880125	0.77405	0.55350214	0.74180	-9.306	0.80974	D	.	.	0.303	0.53557	B	.;.;.	.;.;.	4.566141	0.72000	25.8	0.99603581729820212	0.74338	0.97997	0.78742	D	AEFBI	0.804818	0.72957	D	0.410942028579821	0.62022	4.411669	0.237086651926917	0.51918	3.370332	0.942816597725211	0.27539	0.646311	0.45356	0	0.844039	0.99811	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.34	4.34	0.51267	7.288000	0.78051	7.870000	0.71911	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.316000	0.24877	0.0:0.0:0.0:1.0	13.965	0.63714	154	0.93967	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	977.98	40	chr1	52881544	.	T	C	977.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.980e-01;DP=793;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.68;ReadPosRankSum=-7.550e-01;SOR=0.737	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1272	20	0	1	0
chr1	52905084	52905084	G	A	exonic	ECHDC2	.	nonsynonymous SNV	ECHDC2:NM_001198962:exon5:c.C371T:p.S124L	.	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.948	P	0.57	P	0.023	N	1.000	D	2.715	M	-1.14	T	0.168	D	0.536	D	0.526	2.840	15.46	4.9	2.410	6.640	17.212	0.514	0.0417302647951	7.7e-05	0.000399361	0.0004	9.653e-05	0.0002	0	0	1.503e-05	0	0.0026	0.0003299	51	154602	rs375624978	0.0002	0.0002	0.0001	0.0003	0.0031	0.0002	0.0002	0.0028	0.0027	0.0002	6.708e-05	0	0	0	0.0005	1.709e-05	0.0002	0.0031	0.0002	0.0002	0.0001	0.0003	0.0029	0.0001	0.0001	0.0018	0.0014	0.0003	0	0	0	0	0	0	4.411e-05	0	0.0029	0.03	0.47745	D	0.108	0.45110	T	0.948	0.53620	P	0.57	0.49854	P	0.022695	0.26585	N	0.417680	0.999727	0.48557	D	2.38	0.68558	M	-1.14	0.77843	T	-4.61	0.79060	D	0.575	0.64903	0.168	0.85368	D	0.536	0.82835	D	10	0.030643463	0.01192	T	0.04173	0.60083	D	0.514	0.79217	.	.	0.868485963682	0.86720	0.659954131989251	0.65932	0.475177538353	0.46692	0.554033994675	0.46426	T	0.014203	0.58133	T	-0.241964	0.15100	T	-0.124957	0.61393	T	0.144382296566244	0.16647	T	0.921108	0.96026	D	0.35392815	0.57371	0.21173695	0.45614	0.35392815	0.57371	0.21173695	0.45613	-12.441	0.86933	D	.	.	0.154	0.43855	B	.;.;.;.	.;.;.;.	4.920427	0.81031	27.5	0.99823837496535095	0.90677	0.80258	0.39943	D	ALL	0.847318	0.76417	D	0.345839173879869	0.58521	4.024766	0.257397768351661	0.53071	3.477989	0.999999999944566	0.74766	0.839682	0.99964	0	0.779548	0.99637	0	0.736553	0.94036	0	0.699908	0.69081	0	.	.	4.9	4.9	0.63643	6.821000	0.75062	9.897000	0.82319	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.391000	0.26581	0.0:0.0:1.0:0.0	17.212	0.86813	141	0.94388	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	559.98	33	chr1	52905084	.	G	A	559.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.561;DP=731;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.73;ReadPosRankSum=0.752;SOR=0.657	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1192	20	0	1	0
chr1	53075877	53075877	C	T	exonic	PODN	.	nonsynonymous SNV	PODN:NM_153703:exon5:c.C487T:p.R163C	.	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.998	D	0.847	P	0.000	D	1.000	D	1.04	L	3.6	T	-1.109	T	0.069	T	0.455	4.049	20.8	2.88	1.284	4.252	11.382	0.191	.	0.0037	0.000998403	0.0054	0.0013	0.0051	0	0.0038	0.0088	0.0102	0.0016	0.0032212	498	154602	rs76250115	0.0051	0.0051	0.0052	0.0050	0.0060	0.0050	0.0050	0.0059	0.0059	0.0010	0.0038	0.0040	5.072e-05	0.0006	0.0033	0.0060	0.0042	0.0011	0.0033	0.0033	0.0035	0.0031	0.0053	0.0031	0.0030	0.0048	0.0047	0.0013	0.0011	0.0036	0.0035	0	0.0005	0.0034	0.0053	0.0057	0.0014	0.022	0.48642	D	0.008	0.67890	D	0.998	0.73220	D	0.847	0.60522	P	0.000085	0.51296	D	0.164918	0.990138	0.81001	D	.	.	.	3.6	0.18570	T	-2.36	0.52128	N	0.334	0.37717	-1.1089	0.03166	T	0.069	0.28180	T	10	0.010117233	0.00226	T	.	.	.	0.191	0.46948	.	.	0.58311486246	0.57984	0.41167202033992806	0.41083	1.16621273823	0.79632	0.500429749489	0.38888	T	.	.	.	-0.442566	0.01249	T	-0.406157	0.32669	T	0.0286892850012045	0.01790	T	0.979302	0.92791	D	.	.	.	.	.	.	.	.	-9.41	0.70423	D	.	.	0.457	0.62543	A	.;.;.	.;.;.	5.336289	0.89543	30	0.99923750659693933	0.98917	0.92272	0.55331	D	AEFBHCI	0.805185	0.72984	D	0.347037552579542	0.58582	4.031443	0.343892843994895	0.58141	3.98295	0.999999724474335	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.96	2.88	0.32617	4.350000	0.59169	3.977000	0.40873	0.599000	0.40250	0.983000	0.35670	0.999000	0.35428	0.996000	0.76049	0.5676:0.4324:0.0:0.0	11.382	0.49004	373	0.84140	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1221.98	37	chr1	53075877	.	C	T	1221.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.05;DP=823;ExcessHet=0.0000;FS=0.677;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.10;ReadPosRankSum=1.40;SOR=0.612	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1257	20	0	1	0
chr1	53271287	53271287	T	C	exonic	LRP8	.	nonsynonymous SNV	LRP8:NM_033300:exon5:c.A556G:p.I186V	.	.	405	1116	1	0	0	1	0.000447828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.001	B	0.002	B	.	.	1.000	D	0.515	N	-3.95	D	0.056	D	0.691	D	0.171	0.702	7.744	2.85	1.022	2.066	5.66	0.303	0.0311677559882	0.0016	0.000599042	0.0004	0.0024	0.0003	0	0	0.0002	0.0033	6.056e-05	0.0003234	50	154602	rs143464327	0.0002	0.0002	0.0002	0.0002	0.0033	0.0002	0.0002	0.0028	0.0026	0.0033	0.0007	0	0	0	0.0017	0.0001	0.0004	0.0002	0.0014	0.0014	0.0013	0.0014	0.0035	0.0012	0.0011	0.0031	0.0029	0.0035	0	0.0021	0	0	0	0.0034	0.0003	0.0024	0.0004	0.064	0.38185	T	0.148	0.40586	T	0.0	0.07471	B	0.002	0.06944	B	.	.	.	.	0.999488	0.81001	D	-0.065	0.04868	N	-3.95	0.96175	D	-0.83	0.22727	N	0.243	0.31027	0.056	0.83362	D	0.691	0.89353	D	9	0.022085696	0.00543	T	0.031168	0.53315	D	0.303	0.62400	.	.	0.636201053135	0.63321	0.6848334474630766	0.68422	0.315642752976	0.33839	0.347344040871	0.17530	T	0.214379	0.57595	T	-0.25682	0.13276	T	-0.141002	0.60031	T	0.0115422987487229	0.00174	T	0.827917	0.50504	T	0.06420636	0.13600	0.08061615	0.18250	0.06420636	0.13599	0.08061615	0.18250	-8.09	0.62067	D	.	.	0.172	0.37746	B	.;.;.;.	.;.;.;.	2.264449	0.28940	17.96	0.93309684773022428	0.23025	0.93171	0.57510	D	AEFDGBI	0.426334	0.49073	N	-0.47734939655551	0.22825	1.221464	-0.354556474304451	0.26369	1.45602	0.914694119543582	0.26461	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.27	2.85	0.32333	3.404000	0.52371	2.277000	0.31871	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.238000	0.22948	0.0:0.1456:0.1438:0.7106	5.66	0.16940	425	0.81160	EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1325.98	37	chr1	53271287	.	T	C	1325.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.213;DP=823;ExcessHet=0.0000;FS=4.153;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.07;ReadPosRankSum=1.28;SOR=0.366	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1265	20	0	1	0
chr1	53461500	53461500	G	A	exonic	DMRTB1	.	nonsynonymous SNV	DMRTB1:NM_033067:exon2:c.G605A:p.R202H,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.006	B	0.001	B	0.351	N	1.000	N	0.14	N	.	.	-1.029	T	0.028	T	0.021	1.649	11.47	-4.71	-1.046	-0.869	7.065	0.036	.	.	0.00559105	0.0022	0	8.655e-05	0.0185	0	3.036e-05	0	0.0068	0.0019599	303	154602	rs182273822	0.0009	0.0010	0.0008	0.0011	0.0204	0.0009	0.0009	0.0192	0.0187	0	2.284e-05	0	0.0204	0	0	2.256e-05	0.0012	0.0053	0.0007	0.0007	0.0005	0.0008	0.0134	0.0006	0.0005	0.0108	0.0099	0	0	0.0001	0	0.0134	0	0	2.941e-05	0.0014	0.0056	0.296	0.14694	T	0.576	0.08624	T	0.006	0.13644	B	0.001	0.04355	B	0.350693	0.04243	N	1.376760	1	0.08975	N	0.345	0.11182	N	.	.	.	-1.09	0.28290	N	0.071	0.04426	-1.0292	0.20713	T	0.028	0.12147	T	9	0.0038422048	0.00073	T	.	.	.	0.036	0.09122	.	.	0.102598925029	0.09809	0.16907982471015484	0.16827	0.563884083432	0.52807	0.276804327965	0.07051	T	0.002163	0.01566	T	-0.74219	0.00020	T	-0.823944	0.01374	T	0.00585529640216846	0.00064	T	0.435056	0.11905	T	0.027516162	0.01954	0.031507708	0.01749	0.027516162	0.01954	0.031507708	0.01748	-4.213	0.26939	T	.	.	0.086	0.10497	B	.	.	0.229764	0.06111	2.556	0.93477358703008961	0.23272	0.01590	0.05170	N	AEFBI	0.056243	0.10381	N	-1.35661326464569	0.03057	0.135959	-1.40262969277529	0.03226	0.1500323	0.00183402892679758	0.08930	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	5.11	-4.71	0.03042	-0.950000	0.03999	0.126000	0.14982	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.060000	0.15972	0.3053:0.4689:0.2258:0.0	7.065	0.24328	513	0.74941	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4787.11	33	chr1	53461500	.	G	A	4787.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.79;DP=1059;ExcessHet=0.1072;FS=1.180;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.12;ReadPosRankSum=0.423;SOR=0.765	GT:AD:DP:GQ:PL	0/1:111,113:224:99:2774,0,2514	19	0	2	0
chr1	53464679	53464679	C	T	exonic	DMRTB1	.	nonsynonymous SNV	DMRTB1:NM_033067:exon3:c.C793T:p.P265S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.996	D	0.896	P	0.010	N	0.983	N	1.995	M	0.48	T	-0.735	T	0.275	T	0.314	2.523	14.40	4.5	2.493	0.614	14.417	0.122	.	.	0.0091853	0.0032	0.0130	0.0006	0.0189	0	3.142e-05	0	0.0054	0.0029624	458	154602	rs75818218	0.0013	0.0013	0.0012	0.0013	0.0207	0.0012	0.0012	0.0195	0.0190	0.0127	0.0005	0	0.0207	0	0	2.35e-05	0.0025	0.0049	0.0040	0.0040	0.0037	0.0043	0.0140	0.0038	0.0037	0.0114	0.0106	0.0118	0	0.0010	0	0.0140	0	0	2.947e-05	0.0043	0.0054	0.112	0.28900	T	0.155	0.31936	T	0.996	0.68779	D	0.896	0.63555	P	0.009992	0.30113	N	0.271361	0.983349	0.24892	N	1.59	0.40313	L	0.48	0.55945	T	-1.96	0.45404	N	0.294	0.33250	-0.7352	0.58700	T	0.275	0.64670	T	10	0.00580132	0.00129	T	.	.	.	0.122	0.33800	.	.	0.371383927776	0.36753	0.25444471842682564	0.25358	1.33056252263	0.83634	0.376392602921	0.21744	T	0.022282	0.17204	T	-0.446255	0.01188	T	-0.398854	0.33517	T	0.0379303103157592	0.03320	T	0.547445	0.18775	T	0.08217487	0.18918	0.18491988	0.41574	0.08217487	0.18917	0.18491988	0.41573	-6.882	0.53166	T	.	.	0.159	0.35056	B	.	.	0.952862	0.13291	9.792	0.96807365448538218	0.31172	0.28180	0.23483	N	AEFDBI	0.076982	0.15500	N	0.0807430689633782	0.45565	2.810915	-0.081057326040277	0.36174	2.101823	0.991041321933712	0.32354	0.446893	0.09132	0	0.547309	0.14657	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	4.5	4.5	0.54382	0.515000	0.22507	-1.876000	0.04569	0.599000	0.40250	0.004000	0.16614	0.000000	0.08366	0.328000	0.25156	0.0:1.0:0.0:0.0	14.417	0.66730	502	0.75873	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1335.11	34	chr1	53464679	.	C	T	1335.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.914;DP=796;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=0.314;SOR=0.646	GT:AD:DP:GQ:PL	0/1:49,24:73:99:586,0,1266	19	0	2	0
chr1	53509180	53509180	C	T	exonic	GLIS1	.	nonsynonymous SNV	GLIS1:NM_147193:exon9:c.G1645A:p.G549S	.	.	421	1079	22	0	0	22	0.0100917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.041	B	0.003	B	0.383	N	1.000	N	0.46	N	2.92	T	-0.937	T	0.009	T	0.065	1.104	9.506	-0.102	-0.103	0.110	3.563	0.032	.	0.0079	0.00279553	0.0126	0.0024	0.0063	0	0.0056	0.0190	0	0.0081	0.0066429	1027	154602	rs146608107	0.0095	0.0095	0.0095	0.0095	0.0108	0.0093	0.0093	0.0106	0.0105	0.0015	0.0037	0.0154	2.549e-05	0.0039	0.0045	0.0108	0.0088	0.0055	0.0071	0.0071	0.0076	0.0066	0.0118	0.0067	0.0066	0.0111	0.0108	0.0019	0.0011	0.0041	0.0147	0.0002	0.0037	0	0.0118	0.0071	0.0048	0.058	0.37750	T	0.628	0.07842	T	0.041	0.21357	B	0.003	0.08700	B	0.383071	0.13362	N	0.676716	1	0.08975	N	1.04	0.26193	L	2.92	0.09915	T	0.07	0.06138	N	0.282	0.31925	-0.9373	0.43041	T	0.009	0.03271	T	10	0.007267922	0.00165	T	.	.	.	0.032	0.07718	.	.	0.27855597813	0.27464	0.20276955884188133	0.20193	0.0512016197912	0.05634	0.325554311275	0.14261	T	0.030078	0.21407	T	-0.630645	0.00095	T	-0.667623	0.07762	T	0.00660134065318229	0.00074	T	0.754824	0.37774	T	0.05044339	0.09115	0.098549224	0.23498	0.05044339	0.09114	0.098549224	0.23497	-3.445	0.15670	T	.	.	0.144	0.31783	B	.;.	.;.	0.399911	0.07713	4.389	0.95170321326512031	0.26327	0.01951	0.05929	N	AEFDBI	0.053811	0.09728	N	-1.08094206964121	0.06994	0.3236274	-1.09975683907676	0.07706	0.3758752	0.0661879459511872	0.15385	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.94	-0.102	0.12951	0.221000	0.17463	-5.399000	0.01733	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.592000	0.31189	0.1721:0.4324:0.0:0.3955	3.563	0.07443	483	0.77230	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	612.98	33	chr1	53509180	.	C	T	612.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.486;DP=752;ExcessHet=0.0000;FS=1.157;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.04;ReadPosRankSum=-5.530e-01;SOR=0.950	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1266	20	0	1	0
chr1	53514694	53514694	G	A	exonic	GLIS1	.	nonsynonymous SNV	GLIS1:NM_147193:exon7:c.C1289T:p.P430L	.	.	424	1092	5	1	0	7	0.00319489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.384	B	0.078	B	0.056	N	0.991	D	0.975	L	2.76	T	-0.977	T	0.013	T	0.184	1.914	12.36	3.9	1.155	1.455	8.079	0.015	0.00989298788821	0.0045	0.000798722	0.0036	0.0016	0.0023	0	0.0043	0.0051	0.0045	0.0016	0.003771	583	154602	rs142735388	0.0056	0.0056	0.0056	0.0056	0.0066	0.0055	0.0054	0.0065	0.0064	0.0011	0.0023	7.657e-05	5.038e-05	0.0028	0.0050	0.0066	0.0050	0.0018	0.0034	0.0034	0.0035	0.0034	0.0060	0.0032	0.0031	0.0055	0.0053	0.0012	0	0.0006	0	0	0.0045	0.0034	0.0060	0.0014	0.0010	0.017	0.51248	D	0.41	0.17750	T	0.384	0.34453	B	0.078	0.28627	B	0.055930	0.22601	N	0.371944	0.990685	0.41213	D	2.35	0.67516	M	2.76	0.11515	T	-1.03	0.27052	N	0.388	0.42931	-0.9774	0.35593	T	0.013	0.05321	T	10	0.011166304	0.00245	T	0.009893	0.25766	T	0.015	0.02232	.	.	0.544303689236	0.54083	0.28315753184834025	0.28228	0.0651516796996	0.07277	0.3909920156	0.23809	T	0.162119	0.50665	T	-0.566044	0.00234	T	-0.57932	0.14605	T	0.0142208380277264	0.00281	T	0.763624	0.39028	T	0.046672173	0.07851	0.050360087	0.07889	0.046672173	0.07850	0.050360087	0.07889	-2.908	0.09223	T	.	.	0.096	0.23640	B	.;.	.;.	2.204857	0.28123	17.69	0.99580483660092889	0.72980	0.63360	0.32065	D	AEFBI	0.073231	0.14641	N	-0.252525661057595	0.31003	1.734149	-0.165473704700105	0.32816	1.870839	0.0013396931270503	0.08454	0.516011	0.20929	0	0.610034	0.51514	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.97	3.9	0.44240	1.863000	0.39097	4.254000	0.42773	-0.123000	0.13640	0.980000	0.35271	1.000000	0.68203	0.554000	0.30269	0.2267:0.0:0.7733:0.0	8.079	0.29895	471	0.78036	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1626.98	41	chr1	53514694	.	G	A	1626.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.18;DP=916;ExcessHet=0.0000;FS=2.184;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=0.822;SOR=0.901	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr1	53594409	53594409	G	A	exonic	GLIS1	.	nonsynonymous SNV	GLIS1:NM_147193:exon3:c.C494T:p.P165L	.	.	158	1351	11	2	0	15	0.00552079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.996	D	0.715	P	0.000	D	1.000	D	2.14	M	2.6	T	-1.097	T	0.065	T	0.372	3.495	17.87	5.07	2.537	7.434	17.001	0.214	0.026124916413	0.0014	0.000798722	0.0015	0.0001	0.0004	0	0	0.0018	0.0050	0.0030	0.0013454	208	154602	rs36070063	0.0014	0.0014	0.0013	0.0015	0.0056	0.0014	0.0013	0.0040	0.0035	0.0003	0.0007	0.0023	2.521e-05	7.668e-05	0.0056	0.0014	0.0024	0.0026	0.0011	0.0011	0.0010	0.0013	0.0023	0.0010	0.0009	0.0014	0.0013	0.0003	0	0.0010	0.0026	0	0	0.0034	0.0017	0.0024	0.0023	0.118	0.28148	T	0.002	0.79402	D	0.996	0.68779	D	0.715	0.54683	P	0.000046	0.53742	D	0.000000	1	0.81001	D	2.56	0.74772	M	2.6	0.13204	T	-5.34	0.84674	D	0.522	0.58031	-1.0974	0.04420	T	0.065	0.27017	T	10	0.020538062	0.00475	T	0.026125	0.49060	D	0.214	0.50650	.	.	0.606491963429	0.60334	0.5782930130756248	0.57758	0.357370273106	0.37457	0.651980757713	0.60267	T	0.456827	0.79544	T	-0.441919	0.01260	T	-0.4128	0.31902	T	0.070060948184942	0.08660	T	0.846115	0.52582	T	0.22651224	0.45334	0.27856404	0.53818	0.22651224	0.45334	0.27856404	0.53817	-5.836	0.44887	T	.	.	0.173	0.50352	B	.;.	.;.	4.463385	0.69484	25.4	0.99622888353280714	0.75533	0.98371	0.82097	D	AEFBHCI	0.842287	0.75941	D	0.557033247768843	0.70512	5.512282	0.562033460210662	0.72240	5.77848	0.999999999999994	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.07	5.07	0.68106	5.845000	0.69157	6.705000	0.56383	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.595000	0.31264	0.0:0.0:1.0:0.0	17.001	0.86255	753	0.51500	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1747.98	34	chr1	53594409	.	G	A	1747.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.94;DP=1410;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.02;ReadPosRankSum=0.511;SOR=0.719	GT:AD:DP:GQ:PL	0/0:59,0:59:99:0,120,1800	20	0	1	0
chr1	53594436	53594436	A	G	exonic	GLIS1	.	nonsynonymous SNV	GLIS1:NM_147193:exon3:c.T467C:p.L156P	.	.	193	1312	16	1	0	18	0.00681302	.	.	696797	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.23	T	0.417	B	0.052	B	0.004	N	1.000	D	0.895	L	2.61	T	-1.004	T	0.011	T	0.222	2.781	15.26	3.86	2.051	4.931	11.802	0.051	.	0.0082	0.00738818	0.0056	0.0223	0.0057	0	0.0017	0.0050	0.0094	0.0034	0.0051875	802	154602	rs139516969	0.0044	0.0044	0.0045	0.0044	0.0222	0.0043	0.0043	0.0209	0.0203	0.0222	0.0065	0.0249	0	0.0014	0.0217	0.0034	0.0085	0.0036	0.0094	0.0094	0.0097	0.0090	0.0207	0.0090	0.0088	0.0196	0.0191	0.0207	0	0.0089	0.0230	0	0.0011	0.0374	0.0040	0.0166	0.0037	0.001	0.78490	D	0.004	0.74150	D	0.417	0.35244	B	0.052	0.25551	B	0.004290	0.33902	N	0.132495	1	0.81001	D	2.56	0.74772	M	2.61	0.13095	T	-1.02	0.26843	N	0.782	0.77883	-1.0036	0.28874	T	0.011	0.04321	T	10	0.0047498643	0.00100	T	.	.	.	0.051	0.14325	.	.	0.426084969639	0.42228	0.7204700891341222	0.71990	0.369412280097	0.38471	0.565649032593	0.48064	T	0.064241	0.32382	T	-0.516641	0.00460	T	-0.497976	0.22558	T	0.0480393010211896	0.05151	T	0.650035	0.26084	T	0.60445124	0.72930	0.56323165	0.74724	0.60445124	0.72931	0.56323165	0.74725	-2.419	0.05251	T	.	.	0.242	0.62147	B	.;.	.;.	3.915487	0.57123	23.8	0.99874674512336015	0.95160	0.88836	0.48959	D	AEFBHCI	0.615510	0.60242	D	-0.0549135896203021	0.39382	2.321615	0.0714554512582941	0.43120	2.62044	0.999974259120804	0.50053	0.525926	0.21836	0	0.615948	0.52940	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.07	3.86	0.43689	3.612000	0.53888	7.812000	0.69465	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.687000	0.33748	0.8534:0.1466:0.0:0.0	11.802	0.51403	753	0.51500	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	874.98	34	chr1	53594436	.	A	G	874.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.069e+00;DP=1423;ExcessHet=0.0000;FS=0.740;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.03;ReadPosRankSum=0.116;SOR=0.805	GT:AD:DP:GQ:PL	0/0:59,0:59:99:0,120,1800	20	0	1	0
chr1	53737854	53737854	G	C	exonic	GLIS1	.	nonsynonymous SNV	GLIS1:NM_001367484:exon2:c.C211G:p.R71G,	.	.	985	533	3	1	0	5	0.00466853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00658946	.	.	.	.	.	.	.	.	0.0019594	51	26028	rs563407853	0.0007	0.0005	0.0006	0.0007	0.0203	0.0007	0.0006	0.0187	0.0180	0.0007	0.0004	0	0	0	0.0038	0.0003	0.0017	0.0203	0.0011	0.0011	0.0007	0.0015	0.0263	0.0010	0.0009	0.0226	0.0212	0.0003	0	0.0002	0	0.0002	0	0.0137	0.0003	0.0014	0.0263	.	.	.	0.012	0.63918	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.36884	.	.	.	.	.	.	.	0.0077798665	0.00177	T	.	.	.	.	.	.	.	0.687436468124	0.68476	.	.	.	.	.	.	.	.	.	.	-0.273979	0.11317	T	-0.631328	0.10314	T	.	.	.	0.551245	0.19007	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.50581	B	.	.	4.330638	0.66357	25.0	0.57066593202396976	0.05688	0.80252	0.39939	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999999652062712	0.74766	0.11394	0.02926	0	0.085267	0.02369	0	0.104817	0.03109	0	0.166187	0.04126	0	0.275742	0.33901	3.93	0.959	0.18747	4.901000	0.62947	2.880000	0.35323	-0.283000	0.06393	1.000000	0.71638	1.000000	0.68203	0.191000	0.21631	0.0:0.1433:0.5603:0.2964	8.980	0.35118	492	0.76569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	185.98	24	chr1	53737854	.	G	C	185.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.490e-01;DP=614;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.31;ReadPosRankSum=0.518;SOR=0.307	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1117	20	0	1	0
chr1	53828075	53828075	C	T	exonic	NDC1	.	nonsynonymous SNV	NDC1:NM_018087:exon4:c.G379A:p.V127M,	.	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.003	B	0.006	B	0.170	N	1.000	N	0.345	N	0.92	T	-1.066	T	0.043	T	0.117	2.474	14.23	-3.11	-0.422	-0.119	3.848	0.054	0.00874370951065	.	.	7.415e-05	0	0.0003	0	0	7.495e-05	0.0011	0	7.76e-05	12	154602	rs769789336	4.241e-05	4.241e-05	4.356e-05	4.125e-05	0.0003	3.376e-05	3.065e-05	0.0001	9.193e-05	0	0.0002	0	0	0	0.0003	4.227e-05	4.967e-05	0	4.597e-05	4.593e-05	1.285e-05	8.058e-05	0.0003	2.108e-05	1.526e-05	8.874e-05	5.384e-05	0	0	0.0003	0	0	0	0.0068	1.47e-05	0	0	0.19	0.21144	T	0.036	0.52060	D	0.003	0.11197	B	0.006	0.12133	B	0.170034	0.17402	N	0.602886	1	0.81001	D	0.11	0.08516	N	0.92	0.44461	T	-0.51	0.15986	N	0.194	0.21319	-1.0662	0.10269	T	0.043	0.18576	T	10	0.06770873	0.09472	T	0.008744	0.23074	T	0.054	0.15330	0.531	0.63855	0.171220215726	0.16700	0.405029520553448	0.40418	0.124255005918	0.13989	0.280599325895	0.07575	T	0.015962	0.13288	T	-0.478441	0.00755	T	-0.64031	0.09647	T	0.0331872391323925	0.02502	T	0.829317	0.49436	T	0.022456173	0.00909	0.037915815	0.03546	0.022456173	0.00909	0.037915815	0.03546	-5.314	0.40081	T	.	.	0.082	0.08851	B	.	.	1.612624	0.20604	14.83	0.97092229125465568	0.32328	0.41820	0.26742	N	AEFBI	0.041028	0.06184	N	-0.770152354202215	0.14093	0.6992271	-0.679576471390971	0.17471	0.929189	0.0070551910128909	0.11374	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	-3.11	0.04975	-0.239000	0.08983	1.109000	0.24140	0.549000	0.26987	0.859000	0.30595	1.000000	0.68203	0.998000	0.85391	0.1748:0.1315:0.5157:0.178	3.848	0.08453	867	0.32089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	619.98	35	chr1	53828075	.	C	T	619.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.510;DP=747;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.69;ReadPosRankSum=1.17;SOR=0.722	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1178	20	0	1	0
chr1	53917027	53917027	C	T	exonic	HSPB11	.	stopgain	HSPB11:NM_001382261:exon6:c.G408A:p.W136X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs757409079	0.0002	0.0001	0.0001	0.0003	0.0002	0.0001	9.868e-05	0.0001	9.096e-05	0	0	0.0012	0	0	0	0.0002	0.0002	0	0.0002	0.0002	0.0002	0.0002	0.0015	0.0002	0.0001	0.0007	0.0005	4.825e-05	0	0.0001	0.0009	0	0	0	0.0003	0	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.46076	0.00973	T	-0.899626	0.00505	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	0.107516	0.05076	1.615	0.79673185849270345	0.12848	0.00468	0.02246	N	AEFBI	0.037514	0.05170	N	.	.	.	.	.	.	0.00180056667003234	0.08891	0.106106	0.02776	0	0.104858	0.03167	0	0.083675	0.02720	0	0.109871	0.03346	0	.	.	0.401	0.401	0.15558	-0.148000	0.10203	-2.186000	0.04087	-0.428000	0.05209	0.043000	0.21118	0.000000	0.08366	0.017000	0.10941	.	.	.	778	0.48011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	351.15	21	chr1	53917027	.	C	T	351.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.04;DP=377;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0324;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.72;ReadPosRankSum=-4.250e-01;SOR=1.112	GT:AD:DP:GQ:PL	0/0:15,0:15:45:0,45,514	20	0	1	0
chr1	54068819	54068819	A	G	exonic	TCEANC2	.	nonsynonymous SNV	TCEANC2:NM_153035:exon3:c.A166G:p.K56E,	.	.	436	1079	7	0	0	7	0.00323326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.003	B	0.002	B	0.000	D	0.998	D	0.53	N	.	.	-1.065	T	0.067	T	0.183	1.821	12.05	3.43	2.209	4.799	9.170	0.061	0.00374992999148	0.0002	0.000798722	0.0003	0.0002	0.0002	0	0	0.0004	0.0022	0	0.0003105	48	154602	rs144986013	0.0003	0.0003	0.0003	0.0003	0.0051	0.0003	0.0002	0.0036	0.0031	0.0007	0.0004	0.0003	0	0	0.0051	0.0002	0.0008	8.162e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	9.898e-05	9.618e-05	0	0.0003	0.0006	0	0	0.0170	0.0002	0.0005	0	0.54	0.14793	T	0.628	0.14500	T	0.003	0.11197	B	0.002	0.06944	B	0.000014	0.62929	D	0.176891	0.998173	0.44592	D	0.91	0.23283	L	.	.	.	-0.9	0.24244	N	0.208	0.23125	-1.0649	0.10572	T	0.067	0.27537	T	9	0.018861622	0.00415	T	0.00375	0.08713	T	0.061	0.17616	.	.	0.0297737177859	0.01360	0.35949643513362156	0.35863	0.266379083954	0.29178	0.325971066952	0.14325	T	0.010721	0.09649	T	-0.354658	0.04442	T	-0.434839	0.29387	T	0.0276536364108324	0.01638	T	0.787321	0.42620	T	0.14285496	0.32857	0.1560657	0.36555	0.14285496	0.32856	0.1560657	0.36554	-5.025	0.37110	T	.	.	0.086	0.18414	B	.;.	.;.	3.135237	0.42385	21.5	0.99635716366002369	0.76326	0.92931	0.56900	D	AEFBI	0.436648	0.49678	N	-0.292667683682049	0.29430	1.631995	-0.0837579949989124	0.36060	2.093875	0.00127464129714481	0.08400	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.79	3.43	0.38372	4.793000	0.62168	7.914000	0.74175	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.7933:0.1355:0.0713:0.0	9.170	0.36238	801	0.44448	Transcription factor IIS, N-terminal|Transcription elongation factor, TFIIS/CRSP70, N-terminal, sub-type;Transcription factor IIS, N-terminal|Transcription elongation factor, TFIIS/CRSP70, N-terminal, sub-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	228.98	33	chr1	54068819	.	A	G	228.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.660e-01;DP=697;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.94;ReadPosRankSum=-3.740e-01;SOR=0.719	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,946	20	0	1	0
chr1	54702160	54702160	G	T	exonic	MROH7	.	nonsynonymous SNV	MROH7:NM_001291332:exon18:c.G1910T:p.R637L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.415	B	0.105	B	0.611	N	1.000	N	1.1	L	4.79	T	-0.975	T	0.024	T	0.217	0.765	8.045	1.18	0.067	0.401	4.267	0.024	0.00742189468936	.	.	.	.	.	.	.	.	.	.	.	.	.	rs370697369	4.115e-06	4.788e-06	2.729e-06	5.516e-06	7.015e-05	1.48e-06	9.7e-07	3.016e-05	2.052e-05	0	0	0	0	0	0	0	0	7.015e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.653	0.39575	T	0.026	0.55759	D	0.415	0.35204	B	0.105	0.31087	B	0.610580	0.05699	N	1.194740	1	0.08975	N	2.015	0.55033	M	4.79	0.01980	T	-2.07	0.47344	N	0.441	0.47949	-0.9750	0.36125	T	0.024	0.10103	T	10	0.078143656	0.12418	T	0.007422	0.19685	T	0.024	0.04979	0.464	0.53404	0.0138822411134	0.00435	0.27172448853207465	0.27085	0.189719429744	0.21289	0.241123124957	0.02892	T	0.004631	0.04039	T	-0.445252	0.01204	T	-0.640681	0.09619	T	0.111846603453159	0.13612	T	0.768323	0.39714	T	0.055197123	0.10693	0.07115494	0.15202	0.055197123	0.10693	0.07115494	0.15201	-5.885	0.45307	T	.	.	0.166	0.36574	B	.;.	.;.	1.034977	0.14151	10.73	0.98661480850491223	0.44345	0.04251	0.09779	N	AEFDBI	0.164660	0.29107	N	-1.02791719724537	0.08027	0.3749803	-1.06351743949056	0.08427	0.4143253	7.7653203496821E-4	0.07793	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.12	1.18	0.20058	0.446000	0.21410	0.428000	0.18294	-0.135000	0.12811	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.273:0.169:0.5579:0.0	4.267	0.10216	808	0.43318	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	581.98	38	chr1	54702160	.	G	T	581.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.070e-01;DP=829;ExcessHet=0.0000;FS=1.085;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.64;ReadPosRankSum=2.42;SOR=0.527	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1446	20	0	1	0
chr1	54731671	54731671	C	G	exonic	TTC4	.	nonsynonymous SNV	TTC4:NM_004623:exon7:c.C867G:p.D289E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	D	2.965	M	4.67	T	-1.199	T	0.027	T	0.842	3.788	19.23	3.98	1.418	1.111	8.739	0.378	0.0243060944425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.114	0.36765	T	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999987	0.54805	D	2.845	0.82663	M	4.67	0.01735	T	-3.8	0.71762	D	0.919	0.92200	-1.1989	0.00158	T	0.027	0.11397	T	9	0.8202367	0.81233	D	0.024306	0.47297	T	0.378	0.69612	.	.	0.712588612948	0.71007	0.7962610980422464	0.79579	0.281092337101	0.30582	0.634518146515	0.57785	T	0.121867	0.44513	T	0.125972	0.66967	D	-0.0568258	0.66552	D	0.988267600536346	0.78620	D	0.832317	0.50011	T	0.5333388	0.69020	0.4358905	0.67060	0.5333388	0.69021	0.4358905	0.67060	-10.461	0.76623	D	.	.	0.851	0.79818	P	.	.	3.974577	0.58384	24.0	0.99635700620103684	0.76326	0.90224	0.51232	D	AEFBI	0.201539	0.32819	N	0.609138981253593	0.73751	6.01769	0.514774247672132	0.68983	5.295928	0.0349433412993405	0.14177	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.88	3.98	0.45383	1.180000	0.31614	3.328000	0.37603	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.8263:0.0:0.1737	8.739	0.33708	833	0.38804	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	52.1	83	chr1	54731671	.	C	G	52.1	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.857e+00;DP=1463;ExcessHet=0.0000;FS=194.764;InbreedingCoeff=-0.0310;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.35;ReadPosRankSum=1.13;SOR=8.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:114,35:152:66:.:.:66,0,2643	20	0	1	0
chr1	54813813	54813813	-	A	splicing	LEXM	NM_152607:exon7:c.763-1->A;NM_001110533:exon7:c.763-1->A	.	.	.	.	425	1015	81	1	0	83	0.0392806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0062	0.00778754	0.0106	0.0026	0.0041	0	0.0076	0.0104	0.0161	0.0281	0.0029968	78	26028	rs1308898806	0.0091	0.0091	0.0084	0.0097	0.0266	0.0089	0.0089	0.0257	0.0253	0.0012	0.0037	0.0030	2.534e-05	0.0099	0.0248	0.0085	0.0089	0.0266	0.0066	0.0066	0.0062	0.0070	0.0245	0.0063	0.0061	0.0209	0.0196	0.0016	0.0033	0.0035	0.0032	0.0002	0.0096	0.0103	0.0093	0.0081	0.0245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2413.86	34	chr1	54813813	.	G	GA	2413.86	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.14;DP=763;ExcessHet=0.0082;FS=5.683;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=17.75;ReadPosRankSum=1.76;SOR=0.368	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1251	18	1	2	0
chr1	54986242	54986242	C	T	exonic	TMEM61	.	nonsynonymous SNV	TMEM61:NM_182532:exon2:c.C161T:p.T54M,	.	.	419	1098	5	0	0	5	0.00227169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.807	P	0.148	B	0.379	N	1.000	N	0.46	N	0.9	T	-1.048	T	0.037	T	0.138	0.933	8.803	0.337	0.188	0.259	3.018	0.041	0.00686926057472	0.0023	0.00119808	0.0025	0.0009	0.0019	0	0.0020	0.0037	0.0011	0.0007	0.0024967	386	154602	rs138273726	0.0031	0.0031	0.0031	0.0031	0.0075	0.0030	0.0030	0.0057	0.0051	0.0005	0.0022	0.0026	0	0.0032	0.0075	0.0035	0.0022	0.0006	0.0024	0.0024	0.0024	0.0025	0.0038	0.0022	0.0021	0.0034	0.0033	0.0006	0	0.0019	0.0026	0	0.0036	0.0034	0.0038	0.0033	0.0004	0.127	0.27080	T	0.174	0.30045	T	0.807	0.45251	P	0.148	0.34065	B	0.379164	0.04409	N	1.422950	1	0.08975	N	0.895	0.22405	L	0.9	0.45248	T	-2.83	0.59710	D	0.135	0.13198	-1.0483	0.14875	T	0.037	0.15899	T	10	0.0049205422	0.00105	T	0.006869	0.18177	T	0.041	0.10877	.	.	0.0920862733494	0.08535	0.28375994575093766	0.28288	0.656864753387	0.58664	0.335006415844	0.15689	T	0.046327	0.27392	T	-0.598424	0.00149	T	-0.631556	0.10298	T	0.0164594106813816	0.00411	T	0.492651	0.15191	T	0.028978221	0.02319	0.062042996	0.12076	0.028978221	0.02318	0.062042996	0.12075	-5.115	0.38065	T	.	.	0.095	0.14933	B	.	.	1.742110	0.22164	15.51	0.99073436003620108	0.51786	0.03386	0.08494	N	AEFDBI	0.061962	0.11882	N	-0.703664453174515	0.15918	0.8065255	-0.807133419190352	0.14324	0.7478004	0.0864700779211896	0.16009	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.8	0.337	0.15206	0.487000	0.22064	0.007000	0.13381	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.171:0.396:0.3336:0.0994	3.018	0.05696	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1712.98	34	chr1	54986242	.	C	T	1712.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.485;DP=811;ExcessHet=0.0000;FS=3.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.86;ReadPosRankSum=0.093;SOR=0.410	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1405	20	0	1	0
chr1	55008300	55008300	A	G	exonic	BSND	.	nonsynonymous SNV	BSND:NM_057176:exon4:c.A635G:p.N212S,	Bartter syndrome, type 4a, Autosomal recessive;Sensorineural deafness with mild renal dysfunction, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	864626	Bartter_disease_type_4A|not_provided	MONDO:MONDO:0011242,MedGen:C1865270,OMIM:602522,Orphanet:112|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.71	T	0.003	B	0.005	B	0.050	N	1.000	N	1.1	L	-0.05	T	-0.938	T	0.151	T	0.0	-0.491	1.745	-7.96	-2.112	-1.614	13.856	0.115	0.0269010853873	0.0002	0.000798722	0.0003	9.766e-05	8.657e-05	0.0002	0	0.0001	0	0.0012	0.0002523	39	154602	rs200071888	0.0001	0.0001	8.031e-05	0.0001	0.0008	0.0001	9.415e-05	0.0007	0.0006	0.0001	6.708e-05	0	0.0003	1.872e-05	0.0005	5.845e-05	0.0001	0.0008	0.0002	0.0002	6.425e-05	0.0002	0.0017	0.0001	8.714e-05	0.0008	0.0006	0.0001	0	0	0	0.0006	0	0	8.821e-05	0	0.0017	0.821	0.02951	T	0.739	0.05000	T	0.003	0.11197	B	0.005	0.11217	B	0.049701	0.02002	N	1.918670	1	0.08975	N	1.385	0.34509	L	-0.05	0.63403	T	0.05	0.06369	N	0.034	0.00942	-0.9384	0.42869	T	0.151	0.47839	T	10	0.006857872	0.00156	T	0.026901	0.49766	D	0.115	0.32236	.	.	0.26547132957	0.26150	0.02469391603684611	0.02420	0.064288560921	0.07168	0.247981488705	0.03558	T	0.251416	0.62167	T	-0.603125	0.00140	T	-0.695471	0.06077	T	0.0153715052061801	0.00343	T	0.144286	0.01174	T	0.018436713	0.00366	0.028408796	0.01075	0.018436713	0.00365	0.028408796	0.01075	-1.001	0.01001	T	.	.	.	.	.	.	.	-1.604471	0.00238	0.004	0.24483543201894112	0.01085	0.00415	0.02058	N	AEFDBI	0.020970	0.00883	N	-1.8209160803396	0.00496	0.0213463	-1.92338314786077	0.00440	0.01945936	0.99823833091657	0.36618	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.83	-7.96	0.01011	-1.555000	0.02274	-2.136000	0.04160	-0.613000	0.04580	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.2273:0.0:0.6737:0.0991	13.856	0.63027	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3735.08	34	chr1	55008300	.	A	G	3735.08	.	AC=2;AF=0.048;AN=42;DP=819;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.41;SOR=0.993	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1240	20	1	0	0
chr1	55039879	55039879	-	CTGCTG	exonic	PCSK9	.	nonframeshift insertion	PCSK9:NM_174936:exon1:c.42_43insCTGCTG:p.L23_G24insLL,	Hypercholesterolemia, familial, 3	.	4	1235	252	23	8	306	0.107659	.	.	260592	not_provided|Hypercholesterolemia,_familial,_1|Cardiovascular_phenotype|not_specified|Hypercholesterolemia,_autosomal_dominant,_3|Familial_hypercholesterolemia	MedGen:C3661900|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	.	0.0022	0	0.0071	0	0	0.0043	0	0.0005	0.0009961	154	154602	rs35574083	0.0033	0.0032	0.0033	0.0032	0.0036	0.0032	0.0032	0.0034	0.0033	0.0006	0.0028	0.0083	5.416e-05	0.0041	0.0036	0.0035	0.0036	0.0009	0.0027	0.0027	0.0028	0.0026	0.0037	0.0025	0.0024	0.0029	0.0027	0.0010	0.0132	0.0037	0.0101	0	0.0031	0	0.0032	0.0043	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	9159.26	78	chr1	55039879	.	A	ACTG,ACTGCTG	9159.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=0.224;DP=1096;ExcessHet=1.7912;FS=0.533;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=20.63;ReadPosRankSum=1.11;SOR=0.729	GT:AD:DP:GQ:PL	0/0:34,0,0:34:99:0,99,1408,99,1408,1408	15	0	5	0
chr1	55058549	55058549	C	T	exonic	PCSK9	.	nonsynonymous SNV	PCSK9:NM_174936:exon9:c.C1405T:p.R469W,	Hypercholesterolemia, familial, 3	.	8	1513	1	0	0	1	0.00033036	.	.	196756	PCSK9-related_disorder|not_specified|not_provided|Hypercholesterolemia,_autosomal_dominant,_3|Cardiovascular_phenotype|Hypercholesterolemia,_familial,_1|Hypobetalipoproteinemia|Familial_hypercholesterolemia	.|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MedGen:CN230736|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.723	P	0.003	N	1.000	N	1.61	L	-0.63	T	-0.780	T	0.229	T	0.254	3.140	16.50	1.33	0.327	-0.067	5.151	0.242	0.0347490446844	0.0027	0.00179712	0.0007	0.0077	0.0002	0	0	3e-05	0	6.056e-05	0.0006404	99	154602	rs141502002	0.0003	0.0003	0.0003	0.0003	0.0087	0.0002	0.0002	0.0079	0.0075	0.0087	0.0003	0	0	0	0.0002	2.968e-05	0.0007	0.0001	0.0025	0.0025	0.0027	0.0024	0.0088	0.0023	0.0022	0.0081	0.0078	0.0088	0	0.0006	0	0	0	0	7.351e-05	0.0019	0	0.01	0.56456	D	0.02	0.58613	D	0.997	0.70673	D	0.723	0.54990	P	0.003340	0.35096	N	0.180388	1	0.08975	N	2.24	0.63355	M	-0.63	0.72011	T	-1.82	0.42763	N	0.709	0.71232	-0.7801	0.56297	T	0.229	0.59459	T	10	0.011399835	0.00249	T	0.034749	0.55884	D	0.242	0.54781	.	.	0.841177199884	0.83966	0.8035416924816183	0.80308	0.24114255866	0.26643	0.571163833141	0.48843	T	0.206842	0.56631	T	-0.417491	0.01775	T	-0.363078	0.37695	T	0.0168379745102337	0.00438	T	0.849315	0.53201	T	0.3836551	0.59580	0.19947407	0.43831	0.3836551	0.59580	0.19947407	0.43830	-3.904	0.22362	T	0.42888406141127217	0.51636	0.112	0.21950	B	.	.	2.346772	0.30078	18.33	0.99834983532435584	0.91628	0.14418	0.18392	N	AEFDBCI	0.068608	0.13542	N	-0.314275739169694	0.28606	1.579161	-0.517986877083049	0.21665	1.173062	0.999953032511729	0.48110	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	4.47	1.33	0.20958	0.031000	0.13598	-2.392000	0.03811	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.146000	0.20164	0.2651:0.5652:0.0:0.1697	5.151	0.14338	867	0.32089	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1241.98	90	chr1	55058549	.	C	T	1241.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=1945;ExcessHet=0.0000;FS=0.820;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.80;ReadPosRankSum=0.882;SOR=0.551	GT:AD:DP:GQ:PL	0/0:89,0:89:99:0,120,1800	20	0	1	0
chr1	55063543	55063543	C	T	exonic	PCSK9	.	nonsynonymous SNV	PCSK9:NM_174936:exon12:c.C2038T:p.R680W,	Hypercholesterolemia, familial, 3	YES	2	1519	1	0	0	1	0.000329056	.	.	362660	Hypercholesterolemia,_autosomal_dominant,_3|Familial_hypercholesterolemia|not_specified|Cardiovascular_phenotype|Hypercholesterolemia,_familial,_1	MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.991	D	0.001	N	1.000	D	0.895	L	-0.88	T	-0.429	T	0.368	T	0.433	3.148	16.53	-0.168	0.200	0.126	8.612	0.409	0.120340798149	.	0.000998403	0.0004	0	0	0	0.0002	1.581e-05	0	0.0028	0.0003363	52	154602	rs533555352	0.0002	0.0002	9.264e-05	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	2.99e-05	0	0	0	3.757e-05	0.0002	1.979e-05	0.0002	0.0024	5.251e-05	5.249e-05	2.569e-05	8.054e-05	0.0014	2.555e-05	1.828e-05	0.0007	0.0005	0	0	0	0	0	0	0	1.47e-05	0	0.0014	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.991	0.79672	D	0.001243	0.39669	N	0.091634	0.933328	0.37051	D	2.6	0.76081	M	-0.88	0.74689	T	-2.85	0.60029	D	0.467	0.50327	-0.4295	0.71083	T	0.368	0.72818	T	10	0.022096336	0.00543	T	0.120341	0.80086	D	0.409	0.72099	0.512	0.61000	0.878050049384	0.87686	0.8180297571673621	0.81759	0.850350720984	0.68505	0.284720957279	0.08159	T	0.34605	0.71436	T	-0.286524	0.09987	T	-0.190206	0.55572	T	0.180808547728568	0.19286	T	0.869813	0.57430	D	0.4213081	0.62178	0.27118498	0.53017	0.5411931	0.69464	0.31499523	0.57487	-8.467	0.64211	D	.	.	0.131	0.28086	B	.	.	3.405961	0.47225	22.4	0.99893616107295802	0.96742	0.70951	0.34805	D	AEFBCIJ	0.478398	0.52098	N	-0.0300014766555127	0.40500	2.406222	-0.157668743251856	0.33115	1.890877	0.999593610804802	0.40745	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	3.38	-0.168	0.12689	0.157000	0.16219	-0.873000	0.07095	0.599000	0.40250	0.841000	0.30301	0.000000	0.08366	0.736000	0.35301	0.3875:0.4816:0.1309:0.0	8.612	0.32973	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.02381	1910.98	127	chr1	55063543	.	C	T	1910.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=1337;ExcessHet=0.0000;FS=2.277;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.05;ReadPosRankSum=-5.270e-01;SOR=0.540	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,120,1800	20	0	1	0
chr1	55214965	55214965	T	C	exonic	USP24	.	nonsynonymous SNV	USP24:NM_015306:exon1:c.A149G:p.Y50C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.943	P	0.759	P	0.181	U	0.599	N	1.87	L	3.75	T	-1.102	T	0.032	T	0.378	2.772	15.23	2.41	1.104	.	8.743	0.062	0.719368629646	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224102853	3.914e-06	6.156e-06	1.546e-06	6.341e-06	7.24e-05	1.15e-06	8.3e-07	2.814e-05	1.835e-05	0	0	0	0	0	0	0	0	7.24e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.011	0.64786	D	.	.	.	.	.	.	0.180575	0.17114	U	0.493259	0.599055	0.30956	N	1.87	0.49600	L	3.75	0.03922	T	-1.02	0.26843	N	0.444	0.48227	-1.1017	0.03892	T	0.032	0.13767	T	10	0.33907485	0.51001	T	0.719369	0.97728	D	0.062	0.17934	.	.	0.151262610727	0.14761	0.5750214284181766	0.57431	1.36629729331	0.84451	0.965019464493	0.99952	D	0.032433	0.22483	T	-0.253185	0.13710	T	-0.432331	0.29670	T	0.792261958122253	0.45838	D	0.829117	0.49388	T	0.20601621	0.42762	0.18395673	0.41417	0.20601621	0.42762	0.18395673	0.41417	-5.369	0.40621	T	.	.	0.149	0.32969	B	.	.	4.581720	0.72389	25.8	0.98986980431013205	0.49861	0.51829	0.28987	D	AEFDGBHCI	0.159698	0.28554	N	0.184211543491379	0.50440	3.234077	0.0993027495506935	0.44514	2.731689	0.999999999998036	0.74766	0.524318	0.21684	1	0.218748	0.04544	0	0.289072	0.05449	1	0.492483	0.08430	1	.	.	2.41	2.41	0.28644	2.641000	0.46254	5.482000	0.48725	0.470000	0.21925	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	8.743	0.33729	856	0.34373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	260.98	20	chr1	55214965	.	T	C	260.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=558;ExcessHet=0.0000;FS=6.152;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.32;ReadPosRankSum=-1.175e+00;SOR=0.811	GT:AD:DP:GQ:PL	0/0:21,0:21:63:0,63,597	20	0	1	0
chr1	56692425	56692425	A	-	exonic	PRKAA2	.	frameshift deletion	PRKAA2:NM_006252:exon4:c.398delA:p.H133Lfs*8,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1349.94	39	chr1	56692424	.	CA	C	1349.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.145e+00;DP=1129;ExcessHet=0.0000;FS=1.685;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.77;ReadPosRankSum=0.901;SOR=0.502	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1140	20	0	1	0
chr1	56707684	56707684	G	A	exonic	PRKAA2	.	nonsynonymous SNV	PRKAA2:NM_006252:exon9:c.G1630A:p.A544T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.697	P	0.411	B	0.000	D	1.000	D	1.79	L	-0.83	T	-0.253	T	0.415	T	0.658	4.785	26.9	5.99	2.840	9.476	20.478	0.362	0.0419340779857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.32453	T	0.063	0.45110	T	0.697	0.41767	P	0.411	0.44827	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.215	0.62545	M	-0.83	0.74159	T	-1.67	0.39887	N	0.68	0.68690	-0.2529	0.76281	T	0.415	0.76245	T	10	0.69721746	0.72219	D	0.041934	0.60196	D	0.362	0.68230	0.407	0.44066	0.911861285934	0.91098	0.7810356495451304	0.78054	1.52497149867	0.87483	0.68064904213	0.64362	T	0.35625	0.72313	T	0.140625	0.68384	D	-0.0357782	0.67984	D	0.989046156406403	0.79308	D	0.954605	0.82717	D	0.68887156	0.77450	0.4936967	0.70716	0.68887156	0.77452	0.4936967	0.70717	-9.121	0.68472	D	.	.	0.793	0.76947	P	.;.	.;.	4.502944	0.70449	25.5	0.99861054994046083	0.93911	0.99348	0.94841	D	AEFDBI	0.869780	0.79046	D	0.636484300271477	0.75495	6.316407	0.730252814636135	0.84676	8.358683	0.999999999998805	0.74766	0.632932	0.41330	0	0.59043	0.45803	0	0.601832	0.32385	0	0.620846	0.47308	0	.	.	5.99	5.99	0.97299	9.602000	0.97623	11.882000	0.98861	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.478	0.99191	897	0.25382	5'-AMP-activated protein kinase catalytic subunit alpha-2, C-terminal;5'-AMP-activated protein kinase catalytic subunit alpha-2, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1950.98	34	chr1	56707684	.	G	A	1950.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.577e+00;DP=830;ExcessHet=0.0000;FS=2.222;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.64;ReadPosRankSum=0.388;SOR=0.501	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1231	20	0	1	0
chr1	56792154	56792154	T	C	exonic	FYB2	.	nonsynonymous SNV	FYB2:NM_001004303:exon2:c.A659G:p.H220R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.985	D	0.693	P	0.179	N	1.000	N	0.895	L	1.41	T	-1.001	T	0.068	T	0.039	1.269	10.14	-4.81	-1.007	-0.906	5.729	0.022	0.00388187359209	.	.	8.281e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs755611914	4.105e-06	4.104e-06	2.723e-06	5.501e-06	5.799e-05	1.48e-06	9.7e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	8.993e-07	0	5.799e-05	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.055	0.38407	T	0.153	0.32144	T	0.985	0.61118	D	0.693	0.53889	P	0.179115	0.03168	N	1.646130	1	0.08975	N	.	.	.	1.41	0.33412	T	-2.96	0.61722	D	0.036	0.01068	-1.0006	0.29746	T	0.068	0.27845	T	10	0.1108394	0.20731	T	0.003882	0.09117	T	0.022	0.04323	0.289	0.24921	0.0297737177859	0.01360	0.0779845281326122	0.07734	0.0219755234092	0.02200	.	.	.	0.012908	0.11259	T	-0.477481	0.00765	T	-0.742117	0.03802	T	0.088731050491333	0.11066	T	0.233877	0.03207	T	0.08377682	0.19360	0.094286956	0.22311	0.08377682	0.19359	0.094286956	0.22311	-3.046	0.10685	T	.	.	0.086	0.10835	B	.	.	-0.084889	0.03731	0.770	0.59242731799505399	0.06178	0.01290	0.04493	N	AEFI	0.078600	0.15862	N	-1.21069014308438	0.04843	0.2194685	-1.38379216076906	0.03424	0.1596946	2.88535054792138E-4	0.06355	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.75	-4.81	0.02948	-0.903000	0.04192	-2.086000	0.04234	-0.109000	0.15193	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.3796:0.3256:0.2948	5.729	0.17299	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1412.98	37	chr1	56792154	.	T	C	1412.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.920e+00;DP=928;ExcessHet=0.0000;FS=1.384;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.70;ReadPosRankSum=-1.300e-01;SOR=0.722	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1800	20	0	1	0
chr1	56943786	56943786	C	A	exonic	C8B	.	nonsynonymous SNV	C8B:NM_000066:exon8:c.G1144T:p.D382Y	C8 deficiency, type II, Autosomal recessive	YES	0	1512	10	0	0	10	0.00329598	.	.	696809	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign|association	.	.	.	.	.	.	.	.	0.01	D	0.989	D	0.837	P	0.029	N	0.869	N	1.61	L	-1.81	D	-0.068	T	0.537	D	0.315	4.741	26.5	3.66	1.507	2.152	12.856	0.397	0.0767145454667	0.0059	0.00279553	0.0042	0.0017	0.0027	0	0.0044	0.0062	0.0022	0.0008	0.0043337	670	154602	rs139498867	0.0061	0.0061	0.0063	0.0059	0.0071	0.0060	0.0060	0.0070	0.0070	0.0012	0.0033	0.0085	0	0.0033	0.0028	0.0071	0.0058	0.0006	0.0043	0.0043	0.0049	0.0037	0.0068	0.0041	0.0039	0.0063	0.0061	0.0013	0.0011	0.0039	0.0121	0	0.0023	0	0.0068	0.0033	0.0006	0.005	0.63226	D	0.007	0.69154	D	0.974	0.57829	D	0.66	0.52803	P	0.029202	0.25487	N	0.458353	0.869162	0.28234	N	.	.	.	-1.81	0.83970	D	-1.54	0.37759	N	0.285	0.37509	-0.0678	0.80828	T	0.537	0.82892	D	10	0.008324385	0.00189	T	0.076715	0.72597	D	0.397	0.71163	.	.	0.879829729705	0.87865	0.7958464797366251	0.79537	0.218399245309	0.24377	0.281983196735	0.07770	T	0.060926	0.31519	T	-0.337704	0.05549	T	-0.250758	0.49742	T	0.0415903852167784	0.03980	T	0.820918	0.48005	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.35992	B	.;.;.	.;.;.	2.904105	0.38503	20.7	0.99371876885480581	0.61498	0.51133	0.28825	D	AEFI	0.436931	0.49694	N	0.0171729707789439	0.42635	2.572692	-0.10819151513677	0.35059	2.023858	0.904939928671033	0.26191	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.59	3.66	0.41111	2.055000	0.40971	0.003000	0.13321	0.599000	0.40250	0.008000	0.17931	0.000000	0.08366	0.988000	0.63387	0.0:0.9173:0.0:0.0827	12.856	0.57271	869	0.31655	.;Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain;Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	2297.98	42	chr1	56943786	.	C	A	2297.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.700e-01;DP=924;ExcessHet=0.0000;FS=1.780;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.195;SOR=0.856	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1364	20	0	1	0
chr1	58665499	58665499	G	T	exonic	MYSM1	.	nonsynonymous SNV	MYSM1:NM_001085487:exon17:c.C2164A:p.R722S,	.	YES	430	1089	1	0	2	3	0.000458926	0.9244	0.806	1373732	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.983	D	0.799	P	0.000	D	0.997	D	1.845	L	1.78	T	-1.091	T	0.108	T	0.801	4.237	22.0	5.09	2.650	4.896	12.718	0.114	0.0157992596723	.	.	0.0002	0.0001	0	0	0	4.535e-05	0	0.0011	0.0001423	22	154602	rs200350305	0.0001	0.0001	0.0001	0.0002	0.0012	0.0001	0.0001	0.0010	0.0009	0	0	0	0	0	0	8.554e-05	3.374e-05	0.0012	4.601e-05	4.597e-05	5.141e-05	4.035e-05	0.0004	2.11e-05	1.527e-05	7.287e-05	3.028e-05	2.414e-05	0	0	0	0	0	0	5.88e-05	0	0.0004	0.003	0.68238	D	0.007	0.69154	D	0.983	0.60381	D	0.799	0.58136	P	0.000035	0.55875	D	0.114874	0.997177	0.43684	D	1.59	0.40313	L	1.78	0.25678	T	-2.91	0.60982	D	0.728	0.72925	-1.0907	0.05416	T	0.108	0.39075	T	9	0.29636383	0.47201	T	0.015799	0.36731	T	0.114	0.32008	0.409	0.44395	0.771699156952	0.76960	0.6493140523794516	0.64867	0.409492726219	0.41761	0.444501280785	0.31192	T	0.01742	0.14217	T	-0.221935	0.17730	T	-0.147919	0.59427	T	0.365669786930084	0.27629	T	0.888711	0.61924	D	0.4104537	0.61449	0.38935775	0.63757	0.4104537	0.61450	0.38935775	0.63757	-9.836	0.72924	D	.	.	0.863	0.80791	P	.;.	.;.	5.146092	0.86174	28.8	0.99787807451466648	0.87396	0.87343	0.46853	D	AEFBI	0.420644	0.48738	N	0.633167493886888	0.75284	6.278742	0.626861805392761	0.76896	6.576466	0.99999064165445	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.563494	0.21769	0	.	.	5.09	5.09	0.68647	5.044000	0.64020	11.904000	0.99435	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:0.8357:0.1643	12.718	0.56496	866	0.32446	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1336.98	33	chr1	58665499	.	G	T	1336.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.49;DP=795;ExcessHet=0.0000;FS=1.587;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=0.370;SOR=0.885	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,101,1460	20	0	1	0
chr1	59872925	59872925	G	A	exonic	HOOK1	.	nonsynonymous SNV	HOOK1:NM_015888:exon22:c.G2147A:p.R716K,	.	.	442	1072	8	0	0	8	0.00371747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	1.0	D	0.999	D	0.000	D	1.000	D	1.525	L	2.23	T	-1.151	T	0.100	T	0.723	5.602	36	5.69	2.671	6.556	19.817	0.260	0.0119369708239	.	0.000199681	0.0019	0	0.0024	0	0	0.0001	0	0.0047	0.0002781	43	154602	rs545100232	0.0004	0.0004	0.0003	0.0005	0.0046	0.0004	0.0003	0.0042	0.0040	0	0.0001	8.091e-05	0	0	0.0023	0.0001	0.0005	0.0046	0.0002	0.0002	0.0001	0.0003	0.0044	0.0002	0.0002	0.0029	0.0025	4.822e-05	0	0.0003	0	0	0	0.0034	0.0001	0	0.0044	0.0	0.91255	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.99	0.53851	M	2.23	0.18083	T	-2.02	0.46503	N	0.349	0.39052	-1.1508	0.01001	T	0.100	0.37290	T	10	0.010874927	0.00240	T	0.011937	0.30057	T	0.260	0.57221	.	.	0.424670345773	0.42081	0.4470359129023934	0.44621	0.336999979067	0.35698	0.594009280205	0.52060	T	0.175472	0.52507	T	-0.272341	0.11498	T	-0.163846	0.58004	T	0.125838294930978	0.14992	T	0.80292	0.44963	T	0.679827	0.76960	0.7096194	0.82873	0.679827	0.76961	0.7096194	0.82874	-4.977	0.36589	T	.	.	0.148	0.32733	B	.	.	3.991397	0.58744	24.0	0.9978833885664572	0.87396	0.97855	0.77635	D	AEFBI	0.844571	0.76152	D	0.699413339106223	0.79592	7.110675	0.718105024196149	0.83753	8.105436	0.999990305473362	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.69	5.69	0.88346	6.671000	0.74311	9.735000	0.81414	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.817	0.96567	856	0.34373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	473.98	34	chr1	59872925	.	G	A	473.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.531;DP=751;ExcessHet=0.0000;FS=1.237;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.47;ReadPosRankSum=-5.850e-01;SOR=0.495	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,984	20	0	1	0
chr1	59904999	59904999	C	T	exonic	CYP2J2	.	nonsynonymous SNV	CYP2J2:NM_000775:exon7:c.G1063A:p.A355T,	.	.	420	1045	55	2	0	59	0.0274546	.	.	2808929	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.002	B	0.015	B	0.395	N	1.000	N	0.855	L	-0.34	T	-0.920	T	0.166	T	0.026	3.091	16.32	2.94	0.344	-0.006	5.067	0.102	0.015105775827	0.0011	0.000998403	0.0018	0.0006	0.0007	0	0.0002	0.0011	0.0055	0.0078	0.0015524	240	154602	rs144856672	0.0012	0.0012	0.0009	0.0014	0.0184	0.0011	0.0011	0.0155	0.0145	0.0007	0.0011	3.827e-05	7.56e-05	0	0.0184	0.0006	0.0017	0.0085	0.0010	0.0010	0.0009	0.0011	0.0085	0.0009	0.0008	0.0065	0.0057	0.0006	0	0.0012	0	0	0	0.0102	0.0008	0.0043	0.0085	0.024	0.47745	D	0.006	0.70582	D	0.002	0.09854	B	0.015	0.17295	B	0.395206	0.13200	N	0.748294	0.999761	0.20447	N	1.79	0.46772	L	-0.34	0.68474	T	0.11	0.05706	N	0.035	0.01004	-0.9203	0.45513	T	0.166	0.50356	T	10	0.0077751577	0.00177	T	0.015106	0.35650	T	0.102	0.29158	.	.	0.519783508757	0.51621	0.3072233096902115	0.30635	0.121399189347	0.13675	0.226801514626	0.01740	T	0.113322	0.43027	T	-0.579393	0.00194	T	-0.599907	0.12819	T	0.023003499802571	0.01024	T	0.765923	0.39354	T	0.063747086	0.13454	0.08463631	0.19484	0.063747086	0.13453	0.08463631	0.19483	-4.378	0.29257	T	.	.	0.078	0.06990	B	.	.	0.592324	0.09609	6.382	0.99512910124413778	0.68739	0.25292	0.22655	N	AEFI	0.434115	0.49529	N	-0.680728933999535	0.16572	0.8454822	-0.632723241483656	0.18655	0.9974999	0.00716124955779844	0.11400	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.95	2.94	0.33188	0.084000	0.14738	-9.174000	0.00857	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.336000	0.25340	0.1638:0.6205:0.1376:0.0781	5.067	0.13926	912	0.21483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1562.98	34	chr1	59904999	.	C	T	1562.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.830e-01;DP=843;ExcessHet=0.0000;FS=0.660;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.58;ReadPosRankSum=-1.422e+00;SOR=0.798	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1253	20	0	1	0
chr1	60040005	60040005	C	T	exonic	C1orf87	.	nonsynonymous SNV	C1orf87:NM_152377:exon5:c.G659A:p.R220H,	.	.	434	1081	7	0	0	7	0.00322729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.0	B	0.001	B	0.574	N	1.000	N	-0.695	N	0.94	T	-0.970	T	0.042	T	0.151	0.623	7.352	-8.79	-2.044	-3.555	17.217	0.047	0.00591110923169	0.0019	0.00139776	0.0026	0.0004	0.0013	0.0002	0.0018	0.0028	0.0011	0.0053	0.0023286	360	154602	rs150454796	0.0021	0.0021	0.0020	0.0022	0.0071	0.0020	0.0020	0.0054	0.0048	0.0009	0.0015	0.0100	0.0001	0.0014	0.0071	0.0018	0.0028	0.0045	0.0018	0.0018	0.0019	0.0018	0.0037	0.0016	0.0016	0.0024	0.0020	0.0003	0	0.0020	0.0075	0.0002	0.0025	0.0068	0.0023	0.0024	0.0037	0.676	0.04482	T	0.322	0.19016	T	0.0	0.02946	B	0.001	0.04355	B	0.574333	0.05498	N	1.228140	1	0.08975	N	-0.515	0.02571	N	0.94	0.43672	T	-0.51	0.15986	N	0.021	0.00339	-0.9697	0.37262	T	0.042	0.18076	T	10	0.005159229	0.00112	T	0.005911	0.15400	T	0.047	0.12962	.	.	0.17948927462	0.17512	0.18253245908563692	0.18172	0.0623679061293	0.06938	.	.	.	0.005315	0.04761	T	-0.656427	0.00066	T	-0.715148	0.05033	T	0.000996837629543356	0.00010	T	0.442656	0.12286	T	0.024146888	0.01219	0.043069344	0.05276	0.024146888	0.01218	0.043069344	0.05276	-7.115	0.54868	T	.	.	0.065	0.01810	B	.	.	-2.662912	0.00021	0.001	0.78058247102254086	0.12138	0.00337	0.01752	N	AEFI	0.028525	0.02529	N	-1.86100754950578	0.00412	0.01772754	-1.88722618413857	0.00519	0.02299955	0.963407202579136	0.28688	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.18	-8.79	0.00709	-3.551000	0.00484	-20.000000	0.00162	-1.748000	0.00692	0.000000	0.06391	0.000000	0.08366	0.560000	0.30412	0.0:0.2006:0.0:0.7994	17.217	0.86829	874	0.30607	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1017.98	34	chr1	60040005	.	C	T	1017.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.830e-01;DP=881;ExcessHet=0.0000;FS=0.774;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.95;ReadPosRankSum=-5.730e-01;SOR=0.663	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr1	60040099	60040099	G	C	exonic	C1orf87	.	nonsynonymous SNV	C1orf87:NM_152377:exon5:c.C565G:p.P189A,	.	.	434	1081	7	0	0	7	0.00322729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.004	B	0.006	B	0.608	N	1.000	N	1.905	M	1.02	T	-0.970	T	0.087	T	0.125	-0.439	1.960	-0.765	-0.262	1.172	2.030	0.049	0.00719872791336	0.0019	0.00119808	0.0025	0.0004	0.0012	0.0002	0.0018	0.0028	0.0011	0.0050	0.0022639	350	154602	rs11585228	0.0020	0.0020	0.0019	0.0021	0.0071	0.0020	0.0019	0.0054	0.0048	0.0007	0.0015	0.0100	5.038e-05	0.0014	0.0071	0.0018	0.0028	0.0043	0.0018	0.0018	0.0019	0.0017	0.0035	0.0016	0.0016	0.0022	0.0019	0.0003	0	0.0020	0.0075	0.0002	0.0024	0.0068	0.0023	0.0024	0.0035	0.099	0.30656	T	0.0	0.92824	D	0.004	0.12183	B	0.006	0.12133	B	0.608251	0.10892	N	0.808768	1	0.08975	N	2.175	0.60977	M	1.02	0.40749	T	-3.83	0.72120	D	0.084	0.06059	-0.9696	0.37283	T	0.087	0.33662	T	10	0.009225935	0.00208	T	0.007199	0.19089	T	0.049	0.13647	.	.	0.318252033908	0.31440	0.08055325296208754	0.07990	0.051673236916	0.05686	.	.	.	0.020848	0.16341	T	-0.566595	0.00232	T	-0.586384	0.13980	T	0.00977125481276247	0.00128	T	0.49705	0.15447	T	0.07851274	0.17883	0.08221232	0.18746	0.07851274	0.17882	0.08221232	0.18746	-4.108	0.25408	T	.	.	0.099	0.16538	B	.	.	0.207856	0.05916	2.358	0.58454737945237512	0.05997	0.05983	0.11944	N	AEFI	0.070639	0.14031	N	-0.825917449351535	0.12650	0.6179676	-0.913139151063799	0.11783	0.6024245	5.85137247288541E-4	0.07390	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.03	-0.765	0.10468	1.204000	0.31902	0.437000	0.18385	0.676000	0.76740	0.070000	0.22072	0.001000	0.17328	0.020000	0.11549	0.1797:0.2764:0.402:0.1419	2.030	0.03314	874	0.30607	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1107.98	34	chr1	60040099	.	G	C	1107.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.864;DP=869;ExcessHet=0.0000;FS=0.850;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.85;ReadPosRankSum=0.183;SOR=0.571	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr1	60041001	60041001	T	C	exonic	C1orf87	.	nonsynonymous SNV	C1orf87:NM_152377:exon4:c.A473G:p.D158G,	.	.	424	1091	7	0	0	7	0.00319781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.001	B	0.002	B	0.546	N	1.000	N	0.915	L	2.23	T	-0.953	T	0.025	T	0.027	0.636	7.416	0.441	0.168	-0.493	7.769	0.033	0.00311631352435	0.0020	0.00119808	0.0025	0.0004	0.0012	0.0002	0.0018	0.0028	0.0011	0.0056	0.0022574	349	154602	rs145230176	0.0020	0.0020	0.0019	0.0021	0.0070	0.0020	0.0019	0.0053	0.0047	0.0007	0.0015	0.0101	2.524e-05	0.0014	0.0070	0.0018	0.0026	0.0043	0.0018	0.0018	0.0019	0.0017	0.0035	0.0016	0.0016	0.0022	0.0019	0.0003	0	0.0020	0.0075	0	0.0025	0.0068	0.0023	0.0024	0.0035	0.704	0.04120	T	0.809	0.03956	T	0.001	0.07471	B	0.002	0.06944	B	0.545901	0.11487	N	0.779066	1	0.08975	N	1.4	0.35362	L	2.23	0.18083	T	-0.88	0.23808	N	0.075	0.04913	-0.9527	0.40503	T	0.025	0.10866	T	10	0.00558576	0.00123	T	0.003116	0.06756	T	0.033	0.08068	.	.	0.139678290688	0.13603	0.1458111418850888	0.14503	0.0654620922164	0.07306	.	.	.	0.002106	0.01509	T	-0.742369	0.00020	T	-0.839009	0.01114	T	0.000320272311906492	0.00003	T	0.432757	0.11777	T	0.048990704	0.08626	0.0663158	0.13568	0.048990704	0.08626	0.0663158	0.13568	-2.906	0.09203	T	.	.	0.075	0.05668	B	.	.	0.055736	0.04680	1.326	0.71697848114821094	0.09717	0.00994	0.03770	N	AEFI	0.031967	0.03522	N	-0.96971236975053	0.09255	0.4372813	-0.929877580288252	0.11391	0.580026	5.61244375151907E-4	0.07335	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.25	0.441	0.15789	-0.251000	0.08837	-0.680000	0.07891	-0.242000	0.07441	0.002000	0.15269	0.000000	0.08366	0.070000	0.16646	0.0:0.5913:0.0:0.4087	7.769	0.28162	876	0.30350	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1571.98	36	chr1	60041001	.	T	C	1571.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.391;DP=851;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.07;ReadPosRankSum=-1.224e+00;SOR=0.702	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1201	20	0	1	0
chr1	60041070	60041070	T	C	exonic	C1orf87	.	nonsynonymous SNV	C1orf87:NM_152377:exon4:c.A404G:p.Y135C,	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.18	B	0.099	B	0.003	N	1.000	D	1.43	L	1.42	T	-1.084	T	0.058	T	0.647	0.915	8.723	2.82	1.027	1.769	5.537	0.164	0.011160185948	.	0.000199681	0.0004	0	0.0002	0.0001	0	9.005e-05	0	0.0021	0.0002911	45	154602	rs201317358	0.0002	0.0002	0.0001	0.0003	0.0022	0.0002	0.0002	0.0019	0.0018	2.989e-05	2.237e-05	0	0	3.745e-05	0.0002	5.938e-05	0.0002	0.0022	5.256e-05	5.251e-05	2.571e-05	8.063e-05	0.0004	2.557e-05	1.83e-05	7.31e-05	3.036e-05	4.813e-05	0	0	0	0.0002	0.0002	0	1.471e-05	0	0.0004	0.066	0.36113	T	0.083	0.41405	T	0.18	0.29046	B	0.099	0.30579	B	0.003495	0.34874	N	0.132770	0.894037	0.36017	D	2.34	0.67151	M	1.42	0.33189	T	-4.95	0.81910	D	0.454	0.49146	-1.0841	0.06572	T	0.058	0.24167	T	10	0.016312987	0.00344	T	0.01116	0.28497	T	0.164	0.42212	.	.	0.299086750705	0.29526	0.2812231559503827	0.28035	0.382782754589	0.39609	.	.	.	0.048765	0.28114	T	-0.363407	0.03942	T	-0.301262	0.44592	T	0.148622333632185	0.16993	T	0.691131	0.30052	T	0.18783695	0.40256	0.21905713	0.46631	0.18783695	0.40255	0.21905713	0.46630	-3.354	0.14444	T	.	.	0.136	0.29642	B	.	.	2.631147	0.34213	19.56	0.95210127693053981	0.26416	0.71635	0.35099	D	AEFI	0.194857	0.32192	N	-0.318328667389358	0.28453	1.569436	-0.239522141900813	0.30134	1.694082	0.00212117520336264	0.09174	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.25	2.82	0.32061	1.754000	0.37998	2.606000	0.33549	0.609000	0.47794	0.967000	0.34061	0.999000	0.35428	0.491000	0.28814	0.1513:0.0834:0.0:0.7653	5.537	0.16304	876	0.30350	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1294.98	36	chr1	60041070	.	T	C	1294.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.64;DP=832;ExcessHet=0.0000;FS=0.695;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.07;ReadPosRankSum=-9.550e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1201	20	0	1	0
chr1	61769355	61769355	A	G	exonic	PATJ	.	nonsynonymous SNV	PATJ:NM_001350145:exon5:c.A457G:p.R153G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.953	P	0.841	P	0.001	D	1.000	N	2.14	M	1.72	T	-1.045	T	0.041	T	0.211	1.786	11.93	-1.84	-0.229	2.950	10.519	0.099	.	0.0088	0.0107827	0.0028	0.0271	0.0033	0	0	0.0003	0	0	0.0026908	416	154602	rs61750905	0.0011	0.0011	0.0012	0.0010	0.0297	0.0010	0.0010	0.0282	0.0275	0.0297	0.0030	0.0008	0	0	0.0031	0.0003	0.0022	4.637e-05	0.0081	0.0082	0.0085	0.0078	0.0271	0.0078	0.0076	0.0258	0.0252	0.0271	0	0.0050	0.0006	0	0	0.0034	0.0003	0.0080	0.0002	0.002	0.72154	D	0.007	0.74150	D	0.762	0.43602	P	0.634	0.51870	P	0.000582	0.43095	D	0.147973	1	0.08975	N	1.89	0.50145	L	1.72	0.26588	T	-4.83	0.80943	D	0.439	0.49874	-1.0449	0.15854	T	0.041	0.17488	T	10	0.0057317615	0.00128	T	.	.	.	0.099	0.28413	.	.	0.555475725382	0.55207	0.5214118516221714	0.52064	0.529609236824	0.50521	0.357104450464	0.18963	T	0.010518	0.40011	T	-0.512573	0.00485	T	-0.488103	0.23590	T	0.109615930164741	0.13383	T	0.89841	0.71149	D	0.5234195	0.68456	0.44105345	0.67403	0.5234195	0.68457	0.44105345	0.67403	-13.044	0.89544	D	.	.	0.185	0.40098	B	.;.;.;.	.;.;.;.	3.099050	0.41754	21.4	0.97802291538631125	0.36071	0.76553	0.37554	D	AEFBI	0.329296	0.42969	N	-0.359542322379787	0.26924	1.473178	-0.525904906099846	0.21451	1.160481	1.51622430798861E-4	0.05650	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.620846	0.47308	0	.	.	5.5	-1.84	0.07387	2.790000	0.47512	1.886000	0.29485	-0.174000	0.10959	0.921000	0.31989	0.545000	0.25436	0.106000	0.18562	0.3793:0.5111:0.0:0.1096	10.519	0.44095	928	0.17405	PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	727.98	33	chr1	61769355	.	A	G	727.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.371;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.25;ReadPosRankSum=0.208;SOR=0.767	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1264	20	0	1	0
chr1	62114167	62114169	GAG	-	exonic	PATJ	.	nonframeshift deletion	PATJ:NM_001350145:exon35:c.4576_4578del:p.E1527del	.	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00738818	0.0026	0	0.0003	0.0327	0	0.0003	0.0033	0.0008	0.0003842	10	26028	rs149912818	0.0008	0.0008	0.0008	0.0008	0.0207	0.0008	0.0007	0.0196	0.0191	0	0.0001	3.826e-05	0.0207	0.0001	0.0003	0.0001	0.0016	0.0007	0.0013	0.0013	0.0011	0.0015	0.0325	0.0011	0.0011	0.0285	0.0269	0	0	0	0	0.0325	0.0002	0	0.0002	0.0009	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3314.94	163	chr1	62114166	.	TGAG	T	3314.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.084;DP=1339;ExcessHet=0.0000;FS=1.213;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.09;ReadPosRankSum=-5.910e-01;SOR=0.720	GT:AD:DP:GQ:PL	0/1:80,85:165:99:3329,0,3099	20	0	1	0
chr1	62274307	62274307	T	C	exonic	KANK4	.	nonsynonymous SNV	KANK4:NM_181712:exon3:c.A797G:p.D266G,	.	.	421	1099	2	0	0	2	0.000909091	.	.	2334503	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.0	B	0.533	N	1.000	N	0.55	N	0.98	T	-1.062	T	0.050	T	0.084	0.652	7.497	-4.51	-1.208	0.170	0.994	0.027	0.0049191197081	.	.	9.923e-05	0	0	0	0	0.0002	0	0	7.76e-05	12	154602	rs200292056	7.114e-05	7.114e-05	5.036e-05	9.213e-05	0.0009	5.98e-05	5.588e-05	0.0003	0.0002	2.987e-05	0	0	0	7.489e-05	0.0009	8.093e-05	3.311e-05	2.319e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.258	0.16683	T	0.302	0.20228	T	0.0	0.02946	B	0.0	0.01387	B	0.532929	0.05268	N	1.357540	1	0.18198	N	1.61	0.41143	L	0.98	0.42122	T	-1.22	0.30964	N	0.098	0.07949	-1.0622	0.11215	T	0.050	0.21300	T	10	0.047207475	0.04010	T	0.004919	0.12380	T	0.027	0.05988	.	.	0.101711395817	0.09552	0.41782377554227373	0.41698	0.282967042938	0.30750	0.312653839588	0.12307	T	0.001831	0.01251	T	-0.521186	0.00433	T	-0.701711	0.05733	T	0.0202599699754805	0.00726	T	0.450355	0.12714	T	0.04119719	0.06024	0.046697695	0.06566	0.04119719	0.06023	0.046697695	0.06566	-3.229	0.12838	T	.	.	0.072	0.04277	B	.	.	-0.069179	0.03828	0.819	0.79788533055665001	0.12901	0.15758	0.19067	N	AEFDBI	0.185841	0.31316	N	-1.50977691739615	0.01785	0.07820878	-1.57847489159848	0.01787	0.08134875	0.00823792419919917	0.11637	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.29	-4.51	0.03237	-0.010000	0.12681	-0.864000	0.07130	-0.147000	0.12262	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1396:0.2493:0.2708:0.3403	0.994	0.01371	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2150.98	55	chr1	62274307	.	T	C	2150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.83;DP=1734;ExcessHet=0.0000;FS=6.901;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.79;ReadPosRankSum=-2.620e-01;SOR=1.032	GT:AD:DP:GQ:PL	0/0:115,0:115:99:0,120,1800	20	0	1	0
chr1	62450619	62450619	A	G	exonic	USP1	.	nonsynonymous SNV	USP1:NM_001017415:exon9:c.A1996G:p.I666V	.	.	427	1043	51	1	0	53	0.0247779	.	.	2808940	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.000	N	0.864	N	-0.46	N	2.78	T	-0.933	T	0.009	T	0.031	-0.990	0.276	-2.28	-0.296	0.224	12.722	0.294	0.00157778008887	0.0013	0.00219649	0.0030	0.0002	0.0023	0	0	0.0027	0.0044	0.0091	0.0028395	439	154602	rs141001844	0.0020	0.0020	0.0016	0.0023	0.0295	0.0019	0.0019	0.0259	0.0245	0.0006	0.0023	0.0191	0	9.368e-05	0.0295	0.0009	0.0041	0.0092	0.0024	0.0024	0.0022	0.0025	0.0070	0.0022	0.0021	0.0052	0.0045	0.0001	0.0899	0.0025	0.0204	0	0	0.0510	0.0015	0.0057	0.0070	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000008	0.62929	N	0.109127	0.863988	0.28312	N	-1.9	0.00240	N	2.78	0.11298	T	0.06	0.06253	N	0.027	0.00571	-0.9329	0.43710	T	0.009	0.03359	T	10	0.0028123558	0.00044	T	0.001578	0.02523	T	0.294	0.61388	.	.	0.043077524339	0.03247	0.12277180186797472	0.12203	0.0809128222663	0.09109	0.262857377529	0.05235	T	0.077786	0.35738	T	-0.735338	0.00022	T	-0.823065	0.01391	T	0.00143022983137073	0.00014	T	0.530047	0.17581	T	0.046241585	0.07707	0.059083413	0.11029	0.046241585	0.07707	0.059083413	0.11029	-2.613	0.06603	T	.	.	0.049	0.00112	B	.;.	.;.	-1.993868	0.00102	0.002	0.74274434919979704	0.10634	0.11600	0.16740	N	AEFDGBI	0.045861	0.07548	N	-1.10456425471422	0.06562	0.3023988	-0.932802013638722	0.11323	0.5761336	0.833729220619067	0.24739	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.39	-2.28	0.06438	0.242000	0.17862	-5.550000	0.01678	-2.134000	0.00380	0.612000	0.27847	0.000000	0.08366	0.824000	0.38829	0.2925:0.0:0.7075:0.0	12.722	0.56521	866	0.32446	Ubiquitin specific protease domain;Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1524.98	33	chr1	62450619	.	A	G	1524.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.35;DP=784;ExcessHet=0.0000;FS=7.334;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=1.05;SOR=0.725	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr1	62555932	62555932	T	C	exonic	DOCK7	.	nonsynonymous SNV	DOCK7:NM_001271999:exon21:c.A2489G:p.K830R	Epileptic encephalopathy, early infantile, 23, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.0	B	0.004	B	0.000	N	1.000	D	0.515	N	1.65	T	-1.055	T	0.041	T	0.226	1.033	9.220	3.1	1.089	4.137	10.225	0.055	0.00431070796127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.589	0.06145	T	0.565	0.08991	T	0.0	0.02946	B	0.002	0.10090	B	0.000003	0.62929	N	0.102578	0.972982	0.38989	D	0.42	0.12520	N	1.65	0.27650	T	0.25	0.04456	N	0.239	0.31365	-1.0547	0.13119	T	0.041	0.17615	T	10	0.12955225	0.24652	T	0.004311	0.10467	T	0.055	0.15663	0.467	0.53891	0.198222871337	0.19423	0.3344204142035221	0.33355	0.315155590494	0.33798	0.549779772758	0.45826	T	0.079535	0.36151	T	-0.209568	0.19440	T	-0.538807	0.18414	T	0.474291622638702	0.31688	T	0.788221	0.45429	T	0.103321806	0.24422	0.1877216	0.42020	0.103321806	0.24422	0.1877216	0.42019	-5.357	0.41426	T	.	.	0.070	0.09917	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.848367	0.37596	20.5	0.96803192406212868	0.31157	0.92752	0.56459	D	AEFBI	0.390589	0.46936	N	-0.503335091311227	0.21972	1.169933	-0.299930799377377	0.28102	1.564203	0.179784182171329	0.17855	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.45	3.1	0.34780	4.264000	0.58657	0.934000	0.22801	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.1366:0.0:0.8634	10.225	0.42395	795	0.45444	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	675.98	33	chr1	62555932	.	T	C	675.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.550e-01;DP=774;ExcessHet=0.0000;FS=0.946;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=-7.790e-01;SOR=0.518	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,114,1710	20	0	1	0
chr1	62598774	62598774	C	T	exonic	ANGPTL3	.	stopgain	ANGPTL3:NM_014495:exon2:c.C574T:p.Q192X,	Hypobetalipoproteinemia, familial, 2, Autosomal recessive	YES	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	4.664	25.7	5.5	2.748	3.708	14.245	.	.	7.7e-05	.	8.372e-06	0	0	0	0	1.522e-05	0	0	3.84e-05	1	26028	rs370511181	6.186e-06	8.209e-06	4.106e-06	8.284e-06	7.232e-06	2.91e-06	2.11e-06	3.11e-06	2.25e-06	0	0	0	0	0	0	7.232e-06	1.664e-05	0	6.577e-06	6.569e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000001	0.62929	D	0.058134	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.757	0.75559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550057	0.95802	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.351685	0.97462	37	0.99779285149097274	0.86606	0.90274	0.51321	D	AEFBI	0.373508	0.45875	N	0.973540994581112	0.94872	13.11087	0.820994345531891	0.91215	10.77459	0.995171300382029	0.33988	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.5	5.5	0.81386	4.328000	0.59040	7.556000	0.60375	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.1491:0.8509:0.0:0.0	14.245	0.65530	802	0.44336	.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	875.98	33	chr1	62598774	.	C	T	875.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.112e+00;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.76;ReadPosRankSum=0.067;SOR=0.669	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1225	20	0	1	0
chr1	62816649	62816649	T	C	exonic	ATG4C	.	nonsynonymous SNV	ATG4C:NM_032852:exon4:c.T235C:p.F79L	.	.	432	1082	7	1	0	9	0.00414174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.993	D	0.979	D	0.000	D	1.000	D	1.885	L	0.92	T	-0.901	T	0.165	T	0.846	5.094	31	5.31	2.126	7.997	15.559	0.469	0.0160781999949	.	.	0.0001	0	0	0	0	0.0001	0	0.0007	0.0001164	18	154602	rs757638400	9.168e-05	9.166e-05	5.855e-05	0.0001	0.0009	7.892e-05	7.367e-05	0.0007	0.0007	0	0	0	0	0	0.0009	4.137e-05	9.938e-05	0.0009	1.971e-05	1.969e-05	2.57e-05	1.344e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0.0034	1.47e-05	0	0.0002	0.017	0.51853	D	0.031	0.55341	D	0.993	0.65571	D	0.979	0.74454	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.26	0.64354	M	0.92	0.44461	T	-5.65	0.86988	D	0.92	0.92317	-0.9008	0.47910	T	0.165	0.50209	T	10	0.87655836	0.86948	D	0.016078	0.37157	T	0.469	0.76355	0.89	0.97320	0.664565805711	0.66174	0.8302450778673504	0.82983	0.0881398853638	0.09959	0.818254172802	0.84760	D	0.227963	0.83945	T	-0.0972889	0.36874	T	0.0146702	0.71284	D	0.708102285861969	0.41107	D	0.907009	0.67223	D	0.6956678	0.77820	0.64943975	0.79493	0.6956678	0.77821	0.64943975	0.79494	-8.422	0.63911	D	.	.	0.993	0.96661	P	.;.;.;.	.;.;.;.	4.915025	0.80898	27.4	0.99899789771778691	0.97199	0.98110	0.79682	D	AEFBI	0.888979	0.82264	D	0.717021445291663	0.80748	7.363507	0.709535578001239	0.83103	7.934676	0.999988524869231	0.51787	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.31	5.31	0.75063	7.674000	0.83146	7.712000	0.66855	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.559	0.75969	878	0.29785	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3099.08	33	chr1	62816649	.	T	C	3099.08	.	AC=2;AF=0.048;AN=42;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.24;SOR=0.811	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1135	20	1	0	0
chr1	62864118	62864118	C	T	exonic	ATG4C	.	stopgain	ATG4C:NM_032852:exon11:c.C1336T:p.Q446X	.	.	446	1075	1	0	0	1	0.0004649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	4.903	28.2	1.29	-0.034	2.842	7.362	.	.	0.0003	.	0.0002	0	0.0002	0	0	0.0003	0	0	0.0001358	21	154602	rs200697610	0.0001	0.0001	0.0001	0.0001	0.0016	0.0001	0.0001	0.0008	0.0006	0	0.0001	0.0005	0	7.498e-05	0.0016	0.0001	0.0002	1.179e-05	0.0001	0.0001	6.438e-05	0.0001	0.0004	6.529e-05	5.337e-05	0.0002	0.0001	0	0	0.0004	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000423	0.44522	D	0.182425	0.999995	0.58761	D	.	.	.	.	.	.	.	.	.	0.135	0.13484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.365406	0.87656	D	0.566539	0.96104	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	7.410888	0.96489	36	0.95642972991550035	0.27443	0.65614	0.32796	D	AEFI	0.052765	0.09447	N	0.242355129582298	0.53262	3.495906	-0.00200071625866466	0.39626	2.352328	1.4826180497459E-4	0.05573	0.693126	0.56070	0	0.659464	0.62310	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.0	1.29	0.20717	2.318000	0.43438	4.488000	0.43560	-0.306000	0.06133	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.64:0.2861:0.0739:0.0	7.362	0.25927	777	0.48198	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	693.98	35	chr1	62864118	.	C	T	693.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.860e-01;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=-4.740e-01;SOR=0.722	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1034	20	0	1	0
chr1	63623734	63623734	A	G	exonic	PGM1	.	nonsynonymous SNV	PGM1:NM_001172818:exon1:c.A274G:p.I92V,	Congenital disorder of glycosylation, type It, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.377	B	0.201	B	.	.	1.000	D	1.325	L	0.01	T	-1.021	T	0.099	T	0.114	1.688	11.60	2.6	0.424	4.168	9.606	0.086	0.0170426948065	.	0.000399361	0.0004	0	0.0002	0	0	0	0.0012	0.0025	0.0002911	45	154602	rs554580781	0.0002	0.0002	0.0001	0.0002	0.0027	0.0002	0.0001	0.0024	0.0023	0	8.949e-05	0	2.521e-05	0	0.0003	8.999e-07	0.0002	0.0027	7.879e-05	7.874e-05	5.139e-05	0.0001	0.0021	4.494e-05	3.51e-05	0.0011	0.0009	0	0	6.539e-05	0	0	0	0	1.47e-05	0	0.0021	0.085	0.32769	T	0.092	0.39954	T	0.377	0.34270	B	0.201	0.36881	B	.	.	.	.	0.789932	0.81001	D	.	.	.	0.01	0.62459	T	-0.65	0.18877	N	0.225	0.25253	-1.0210	0.23389	T	0.099	0.36932	T	9	0.018765718	0.00411	T	0.017043	0.38572	T	0.086	0.25016	0.678	0.81594	0.723890610637	0.72145	0.639469539201632	0.63881	0.150402291705	0.16965	0.546819865704	0.45408	T	.	.	.	-0.475918	0.00782	T	-0.461948	0.26387	T	0.0458828210059634	0.04762	T	0.754725	0.37732	T	.	.	.	.	.	.	.	.	-5.234	0.39285	T	.	.	0.083	0.09094	B	.	.	1.467383	0.18910	13.99	0.97682859243918729	0.35323	0.92102	0.54949	D	AEFDBI	0.478182	0.52086	N	-0.0974755908511238	0.37502	2.182786	-0.0240862585941492	0.38630	2.278675	0.993708988361822	0.33321	0.522611	0.21652	0	0.54472	0.11627	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.98	2.6	0.30173	3.520000	0.53221	3.545000	0.39022	0.756000	0.94297	1.000000	0.71638	0.990000	0.31317	0.971000	0.54645	0.8536:0.0:0.1464:0.0	9.606	0.38797	927	0.17636	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	547.98	39	chr1	63623734	.	A	G	547.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=767;ExcessHet=0.0000;FS=2.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.45;ReadPosRankSum=0.445;SOR=1.270	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr1	63654374	63654374	C	T	exonic	PGM1	.	stopgain	PGM1:NM_001172818:exon10:c.C1561T:p.R521X	Congenital disorder of glycosylation, type It, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	48371	PGM1-congenital_disorder_of_glycosylation	MONDO:MONDO:0013968,MedGen:C2752015,OMIM:614921,Orphanet:319646	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	6.147	37	4.51	1.379	1.134	13.309	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs397515423	1.163e-05	1.163e-05	1.362e-05	9.627e-06	2.519e-05	7.09e-06	5.79e-06	7.31e-06	5.72e-06	0	0	0	2.519e-05	0	0	1.259e-05	0	2.319e-05	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.958	0.96758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.498631	0.94255	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Recessive	.;.;.;High	10.206197	0.99633	46	0.99741728891944859	0.83555	0.91770	0.54226	D	AEFBI	0.474365	0.51865	N	0.551564909029067	0.70178	5.463448	0.378581841029541	0.60247	4.210113	0.999975670858699	0.50053	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.45	4.51	0.54589	1.188000	0.31711	5.224000	0.48009	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.870000	0.41412	0.2968:0.7032:0.0:0.0	13.309	0.59807	901	0.24189	Alpha-D-phosphohexomutase, C-terminal;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2067.98	33	chr1	63654374	.	C	T	2067.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.950e-01;DP=855;ExcessHet=0.0000;FS=2.036;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.34;ReadPosRankSum=-1.215e+00;SOR=0.606	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1180	20	0	1	0
chr1	64470841	64470841	G	C	exonic	CACHD1	.	nonsynonymous SNV	CACHD1:NM_020925:exon1:c.G97C:p.A33P,	.	.	384	1135	3	0	0	3	0.00131984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	.	.	.	.	.	.	0.929	N	.	.	1.92	T	-0.995	T	0.025	T	0.46	0.823	8.314	1.49	0.022	1.701	11.907	0.135	0.0123775814133	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245684551	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4844.08	27	chr1	64470841	.	G	C	4844.08	.	AC=2;AF=0.048;AN=42;DP=643;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.9997;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.66;SOR=0.857	GT:AD:DP:GQ:PL	0/0:11,0:11:33:0,33,389	20	1	0	0
chr1	64550595	64550595	G	A	exonic	CACHD1	.	nonsynonymous SNV	CACHD1:NM_020925:exon2:c.G200A:p.R67Q,	.	.	440	1078	4	0	0	4	0.00185185	0.9880	0.704	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.934	P	0.614	P	0.000	N	1.000	D	0.55	N	2.02	T	-1.103	T	0.033	T	0.639	3.197	16.70	6.02	2.878	6.735	19.373	0.138	0.00650548327066	0.0003	0.000399361	0.0017	0.0001	8.781e-05	0	0.0005	0.0006	0.0022	0.0095	0.0013454	208	154602	rs200054556	0.0008	0.0008	0.0005	0.0010	0.0091	0.0007	0.0007	0.0086	0.0083	3e-05	6.729e-05	3.835e-05	0	0.0004	0	0.0002	0.0006	0.0091	0.0004	0.0004	0.0003	0.0005	0.0079	0.0003	0.0003	0.0059	0.0052	2.409e-05	0	0.0003	0	0	0.0004	0	0.0002	0	0.0079	0.178	0.22138	T	0.381	0.15939	T	.	.	.	.	.	.	0.000011	0.62929	N	0.106561	0.999952	0.58761	D	.	.	.	1.98	0.21865	T	-0.12	0.08809	N	0.586	0.60664	-1.1031	0.03736	T	0.033	0.14290	T	10	0.009388179	0.00212	T	0.006505	0.17129	T	0.138	0.37187	.	.	0.082315109003	0.07666	0.5835851252226328	0.58287	0.280292788881	0.30507	0.733541369438	0.72025	T	.	.	.	-0.368753	0.03657	T	-0.295926	0.45152	T	0.0424878359371393	0.04145	T	0.955504	0.83071	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.14660	B	.	.	6.633333	0.95514	35	0.99795444101556297	0.88106	0.97120	0.72807	D	AEFBI	0.763514	0.70059	D	0.489731524751536	0.66488	4.956691	0.599002424568146	0.74867	6.210919	0.999999980947258	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	6.02	6.02	0.97559	6.391000	0.73140	9.950000	0.82721	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	19.373	0.94485	898	0.25240	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	792.98	35	chr1	64550595	.	G	A	792.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=790;ExcessHet=0.0000;FS=7.082;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.81;ReadPosRankSum=-1.751e+00;SOR=0.812	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1183	20	0	1	0
chr1	64673166	64673166	T	C	exonic	CACHD1	.	nonsynonymous SNV	CACHD1:NM_001293274:exon17:c.T1631C:p.I544T	.	.	433	1081	7	1	0	9	0.00414556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.968	D	0.969	D	0.000	D	1.000	D	1.59	L	1.54	T	-0.966	T	0.118	T	0.926	4.591	25.0	5.75	2.185	7.587	16.059	0.605	.	.	0.00259585	0.0011	0.0002	0.0002	0	0	0.0002	0.0011	0.0071	0.001022	158	154602	rs554868581	0.0006	0.0006	0.0003	0.0008	0.0077	0.0005	0.0005	0.0072	0.0070	5.978e-05	6.708e-05	0	2.519e-05	0	0.0017	8.724e-05	0.0006	0.0077	0.0004	0.0004	0.0003	0.0005	0.0089	0.0003	0.0003	0.0067	0.0060	2.438e-05	0	0.0001	0	0	0	0	0.0001	0.0005	0.0089	0.003	0.68238	D	0.007	0.69154	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.54	0.30133	T	-3.66	0.70067	D	0.965	0.97535	-0.9659	0.38033	T	0.118	0.41473	T	10	0.011742651	0.00255	T	.	.	.	0.605	0.84452	.	.	0.386522206555	0.38262	0.8364693926502832	0.83606	0.660444123774	0.58870	0.890380740166	0.95307	D	.	.	.	-0.0883598	0.38348	T	0.105428	0.77268	D	0.0737399200489912	0.09167	T	0.942106	0.78341	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.972	0.89681	P	.;.	.;.	4.690585	0.75159	26.3	0.99847436902836806	0.92750	0.97863	0.77695	D	AEFBI	0.841213	0.75842	D	0.721523553504972	0.81043	7.430808	0.732699645171508	0.84861	8.411538	0.999997010215579	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.75	5.75	0.90390	7.565000	0.81337	7.769000	0.68436	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	16.059	0.80632	766	0.49742	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	836.98	39	chr1	64673166	.	T	C	836.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.08;DP=914;ExcessHet=0.0000;FS=6.366;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.01;ReadPosRankSum=-7.710e-01;SOR=1.467	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr1	65392671	65392671	C	T	exonic	DNAJC6	.	nonsynonymous SNV	DNAJC6:NM_001256864:exon12:c.C1709T:p.P570L	Parkinson disease 19a, juvenile-onset, Autosomal recessive;Parkinson disease 19b, early-onset, Autosomal recessive	.	414	1107	1	0	0	1	0.000451467	.	.	1474609	Juvenile_onset_Parkinson_disease_19A	MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528,Orphanet:391411	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.342	B	0.065	B	0.455	N	1.000	D	0.55	N	-3.29	D	-0.235	T	0.528	D	0.11	2.329	13.74	5.65	2.941	3.165	19.914	0.274	0.0808999968828	.	.	5.84e-05	0	8.688e-05	0	0	9.069e-05	0	0	4.53e-05	7	154602	rs751850074	3.492e-05	3.489e-05	3.406e-05	3.579e-05	0.0003	2.699e-05	2.44e-05	6.099e-05	2.524e-05	0	6.734e-05	0	7.562e-05	0	0.0003	3.239e-05	4.973e-05	4.652e-05	1.972e-05	1.97e-05	2.57e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.022	0.48642	D	0.082	0.51421	T	0.342	0.33490	B	0.037	0.27321	B	0.455317	0.12457	N	0.777423	0.999945	0.54805	D	0.77	0.19370	N	-3.29	0.93787	D	-3.39	0.67589	D	0.222	0.27554	-0.2354	0.76746	T	0.528	0.82448	D	9	0.13149384	0.25026	T	0.081	0.73563	D	0.274	0.59007	.	.	0.158540857583	0.15491	0.1770458586189035	0.17623	0.315404516376	0.33817	0.313168287277	0.12386	T	0.464467	0.80000	T	-0.147112	0.28766	T	-0.256757	0.49146	T	0.153232617096544	0.17359	T	0.927007	0.74183	D	0.10532115	0.24901	0.1183395	0.28567	0.10912958	0.25800	0.10604505	0.25503	-4.663	0.35282	T	.	.	0.075	0.05317	B	.;.;.	.;.;.	3.089385	0.41587	21.4	0.95221188964551418	0.26440	0.72451	0.35461	D	AEFBI	0.389762	0.46885	N	-0.391088428889856	0.25785	1.402357	-0.305345771692193	0.27926	1.553125	0.999999999981278	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.65	5.65	0.86881	3.208000	0.50816	3.239000	0.36954	0.599000	0.40250	0.068000	0.22015	0.284000	0.24125	0.061000	0.16044	0.0:1.0:0.0:0.0	19.914	0.97044	786	0.46839	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2130.98	40	chr1	65392671	.	C	T	2130.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.718;DP=915;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.70;ReadPosRankSum=0.921;SOR=0.701	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	20	0	1	0
chr1	65392817	65392817	C	T	exonic	DNAJC6	.	nonsynonymous SNV	DNAJC6:NM_001256864:exon12:c.C1855T:p.R619C	Parkinson disease 19a, juvenile-onset, Autosomal recessive;Parkinson disease 19b, early-onset, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.994	D	0.784	P	0.000	D	1.000	D	1.39	L	-3.19	D	0.634	D	0.786	D	0.449	4.325	22.7	5.5	2.861	4.017	19.592	0.496	0.11376291471	.	.	4.506e-05	9.972e-05	0	0	0	6.283e-05	0	0	3.23e-05	5	154602	rs770127313	1.983e-05	1.984e-05	1.541e-05	2.436e-05	6.28e-05	1.375e-05	1.184e-05	1.719e-05	1.021e-05	6.28e-05	0	4.419e-05	5.121e-05	3.858e-05	0	1.377e-05	3.432e-05	5.221e-05	2.629e-05	2.627e-05	1.285e-05	4.036e-05	9.653e-05	8.14e-06	5.14e-06	3.25e-05	1.915e-05	9.653e-05	0	0	0	0	0	0	0	0	0	0.053	0.39097	T	0.051	0.47828	T	0.989	0.66517	D	0.613	0.57456	P	0.000177	0.48594	D	0.184484	1	0.81001	D	2.075	0.57047	M	-3.19	0.93231	D	-1.0	0.28290	N	0.426	0.48504	0.634	0.92345	D	0.786	0.92729	D	10	0.33690584	0.50822	T	0.113763	0.79238	D	0.496	0.78100	0.403	0.43408	0.305926609036	0.30200	0.3354023440448938	0.33453	1.03285227811	0.75478	0.59734749794	0.52531	T	0.083146	0.36987	T	0.0137012	0.53528	T	-0.0371847	0.67891	D	0.700851380825043	0.40759	D	0.976102	0.93225	D	0.096173316	0.22649	0.06890758	0.14451	0.093627006	0.21994	0.09653748	0.22942	-5.892	0.49299	T	.	.	0.182	0.39528	B	.;.;.	.;.;.	4.312879	0.65945	24.9	0.99931358659379954	0.99387	0.98762	0.86525	D	AEFBI	0.738011	0.68302	D	0.493292305193058	0.66696	4.983759	0.511836977128742	0.68785	5.268291	0.999999999959351	0.74766	0.653281	0.48532	0	0.588015	0.36545	0	0.658983	0.55881	0	0.669	0.65921	0	.	.	5.5	5.5	0.81386	4.259000	0.58627	4.888000	0.45735	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:1.0:0.0:0.0	19.592	0.95510	786	0.46839	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1120.98	40	chr1	65392817	.	C	T	1120.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.940e-01;DP=862;ExcessHet=0.0000;FS=2.799;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=1.13;SOR=0.450	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	20	0	1	0
chr1	65630220	65630220	T	C	exonic	LEPR	.	nonsynonymous SNV	LEPR:NM_001198687:exon19:c.T2692C:p.F898L	Obesity, morbid, due to leptin receptor deficiency	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	.	.	0.46	T	-0.957	T	0.018	T	0.037	-0.565	1.449	.	0.000	0.364	.	0.032	0.00528436233475	.	.	.	.	.	.	.	.	.	.	.	.	.	rs896541635	1.073e-05	8.747e-05	1.343e-05	8.932e-06	2.645e-05	1.78e-06	6.7e-07	.	.	0	0	0	0	0	0	9.447e-06	0	2.645e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.622	0.05278	T	0.606	0.07791	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.46	0.56281	T	0.52	0.02853	N	0.081	0.05670	-0.9568	0.39771	T	0.018	0.07282	T	6	0.06357351	0.08301	T	0.005284	0.13494	T	0.032	0.07718	0.301	0.26843	0.447219684837	0.44343	.	.	.	.	.	.	.	.	.	.	-0.315374	0.07283	T	-0.690789	0.06344	T	0.0257412766863031	0.01371	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-3.006	0.10245	T	.	.	0.384	0.58668	A	.	.	0.347376	0.07205	3.799	0.51466490877915394	0.04568	0.00327	0.01711	N	AEFDBI	0.129930	0.24829	N	-1.28480875884112	0.03858	0.1730912	-1.40131550784436	0.03239	0.1506921	0.120706388880266	0.16875	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.52698	0.09003	0	.	.	.	.	.	0.362000	0.20020	-0.663000	0.07971	.	.	0.206000	0.24378	0.033000	0.21346	.	.	.	.	.	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	61.47	19	chr1	65630220	.	T	C	61.47	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.842;DP=219;ExcessHet=0.0000;FS=3.979;InbreedingCoeff=-0.0330;MLEAC=1;MLEAF=0.025;MQ=52.92;MQRankSum=-1.645e+00;QD=12.29;ReadPosRankSum=-1.645e+00;SOR=2.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:14,0:14:42:.:.:0,42,376	19	0	1	1
chr1	65630223	65630223	G	A	exonic	LEPR	.	nonsynonymous SNV	LEPR:NM_001198687:exon19:c.G2695A:p.V899I	Obesity, morbid, due to leptin receptor deficiency	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.005	B	0.0	B	.	.	1.000	N	.	.	0.56	T	-1.013	T	0.039	T	0.051	-0.755	0.803	.	0.000	0.000	.	0.037	0.00663077938597	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1452549859	6.929e-05	8.747e-05	3.975e-05	8.917e-05	0.0003	4.06e-05	3.172e-05	3.561e-05	2.157e-05	0	7.366e-05	0.0001	0.0003	0	0	4.706e-05	0.0001	0.0001	1.977e-05	1.971e-05	3.864e-05	0	0.0001	5.26e-06	2.46e-06	2.268e-05	9.1e-06	2.422e-05	0	0.0001	0	0	0	0	0	0	0	0.492	0.07944	T	1.0	0.01155	T	0.005	0.12996	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.56	0.54540	T	0.09	0.05917	N	0.071	0.04426	-1.0127	0.26070	T	0.039	0.16935	T	6	0.06697029	0.09263	T	0.006631	0.17501	T	0.037	0.09474	0.549	0.66436	0.248133497653	0.24425	.	.	.	.	.	.	.	.	.	.	-0.321679	0.06761	T	-0.699846	0.05834	T	0.00863702805778517	0.00106	T	0.205379	0.02414	T	.	.	.	.	.	.	.	.	-2.705	0.07346	T	.	.	0.091	0.13221	B	.	.	0.480490	0.08498	5.261	0.6170055986567583	0.06775	0.00364	0.01860	N	AEFDBI	0.122044	0.23700	N	-1.10306947121235	0.06588	0.3037116	-1.25057888725197	0.05123	0.2433343	0.120706388880266	0.16875	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.52698	0.09003	0	.	.	.	.	.	0.000000	0.12910	-0.628000	0.08139	.	.	0.189000	0.24175	0.001000	0.17328	.	.	.	.	.	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	61.82	19	chr1	65630223	.	G	A	61.82	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=220;ExcessHet=0.0000;FS=3.979;InbreedingCoeff=-0.0459;MLEAC=1;MLEAF=0.026;MQ=52.92;MQRankSum=-1.645e+00;QD=12.36;ReadPosRankSum=-1.645e+00;SOR=2.245	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:16,0:16:0:.:.:0,0,317	18	0	1	2
chr1	66833683	66833683	T	C	exonic	DNAI4	.	nonsynonymous SNV	DNAI4:NM_024763:exon13:c.A1915G:p.T639A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.0	B	0.001	B	0.391	N	1.000	N	-0.405	N	-0.15	T	-0.977	T	0.036	T	0.087	-1.775	0.010	-2.61	-0.131	-0.165	5.577	0.035	0.00607945621685	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1040317148	1.369e-06	1.368e-06	2.724e-06	0	2.992e-05	2.3e-07	9e-08	.	.	2.992e-05	2.241e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625	0.05229	T	0.787	0.04372	T	0.0	0.02946	B	0.001	0.04355	B	0.390784	0.13258	N	0.758088	1	0.08975	N	0.9	0.23182	L	-0.67	0.72458	T	-0.89	0.24026	N	0.159	0.16586	-0.9766	0.35772	T	0.036	0.15640	T	10	0.034965873	0.01725	T	0.006079	0.15905	T	0.035	0.08770	0.272	0.22210	0.264547087235	0.26054	0.16798687278893992	0.16718	0.0955153506399	0.10790	0.313850969076	0.12489	T	0.002409	0.01807	T	-0.246119	0.14577	T	-0.59131	0.13552	T	0.0308567040396107	0.02123	T	0.411059	0.11777	T	0.043253202	0.06709	0.036342908	0.03063	0.043253202	0.06708	0.036342908	0.03062	-3.674	0.18935	T	.	.	0.058	0.01197	B	.;.	.;.	0.147818	0.05405	1.882	0.20233989032977334	0.00719	0.03920	0.09307	N	AEFBI	0.083876	0.16995	N	-1.48465045328366	0.01958	0.08596989	-1.4530902083725	0.02742	0.1266876	0.00464356561167605	0.10654	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.68	-2.61	0.05811	-0.159000	0.10043	-0.336000	0.09852	-0.212000	0.08331	0.001000	0.13787	0.000000	0.08366	0.032000	0.13371	0.2205:0.381:0.0:0.3985	5.577	0.16513	651	0.62880	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1139.98	34	chr1	66833683	.	T	C	1139.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.48;DP=789;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.53;ReadPosRankSum=-4.840e-01;SOR=0.655	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1143	20	0	1	0
chr1	67127228	67127228	T	-	exonic	C1orf141	.	frameshift deletion	C1orf141:NM_001276351:exon3:c.13delA:p.I5Sfs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1304111399	2.546e-05	2.736e-05	2.739e-05	2.351e-05	0.0014	1.879e-05	1.64e-05	0.0007	0.0005	3.005e-05	0	0	0	0	0.0014	1.805e-05	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2685.94	34	chr1	67127227	.	AT	A	2685.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.048e+00;DP=867;ExcessHet=0.0000;FS=0.568;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.44;ReadPosRankSum=-8.890e-01;SOR=0.781	GT:AD:DP:GQ:PL	0/1:72,102:174:99:2700,0,1756	20	0	1	0
chr1	67200841	67200841	C	T	exonic	IL23R	.	nonsynonymous SNV	IL23R:NM_144701:exon5:c.C596T:p.A199V,	.	.	421	1090	11	0	0	11	0.00502054	.	.	1067547	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.4	T	0.103	B	0.037	B	0.901	N	1.000	N	0.665	N	3.07	T	-0.889	T	0.005	T	0.111	-0.788	0.709	1.8	-0.128	0.359	6.105	0.037	0.0078103055012	0.0005	0.000199681	0.0008	0	0.0008	0	0	0.0011	0.0033	0.0008	0.000718	111	154602	rs143130647	0.0006	0.0006	0.0005	0.0006	0.0028	0.0005	0.0005	0.0017	0.0014	0.0002	0.0011	0.0023	0	5.616e-05	0.0028	0.0005	0.0009	0.0006	0.0005	0.0005	0.0006	0.0005	0.0008	0.0005	0.0004	0.0006	0.0005	0.0001	0	0.0007	0.0032	0	9.432e-05	0	0.0007	0.0005	0.0008	0.432	0.09486	T	0.529	0.10138	T	0.103	0.25884	B	0.037	0.23121	B	0.901311	0.07357	N	1.042350	1	0.08975	N	0.615	0.15706	N	3.07	0.08547	T	-1.01	0.26639	N	0.055	0.02658	-0.8894	0.48986	T	0.005	0.01651	T	10	0.02271396	0.00575	T	0.00781	0.20720	T	0.037	0.09474	.	.	0.151104730317	0.14643	0.23140051723454602	0.23055	0.179236820395	0.20168	0.27769869566	0.07174	T	0.086962	0.37838	T	-0.641936	0.00081	T	-0.745314	0.03671	T	0.000857450009789318	0.00008	T	0.523848	0.17156	T	0.061743587	0.12821	0.035519443	0.02818	0.061743587	0.12821	0.035519443	0.02818	-5.435	0.41255	T	.	.	0.107	0.20157	B	.	.	0.553945	0.09227	6.008	0.62537472968172381	0.06988	0.07293	0.13315	N	AEFHCI	0.065214	0.12709	N	-1.51759799402526	0.01733	0.0759072	-1.45289542498364	0.02744	0.1267707	2.36499266058486E-6	0.01202	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.95	1.8	0.24069	0.372000	0.20199	0.806000	0.21705	-1.008000	0.01777	0.202000	0.24332	0.261000	0.23984	0.023000	0.12082	0.2598:0.5763:0.0:0.1639	6.105	0.19289	603	0.67726	Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1274.98	42	chr1	67200841	.	C	T	1274.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.498e+00;DP=877;ExcessHet=0.0000;FS=2.482;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=2.04;SOR=0.463	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr1	70044072	70044072	A	C	exonic	LRRC7	.	nonsynonymous SNV	LRRC7:NM_001370785:exon22:c.A4088C:p.H1363P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.101	B	0.079	B	0.000	D	1.000	N	0	N	2.34	T	-0.985	T	0.019	T	0.455	1.745	11.79	2.48	0.157	2.768	11.844	0.106	0.00709663419366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	2.724e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.50676	D	0.076	0.57587	T	0.021	0.25775	B	0.019	0.28749	B	0.000274	0.46590	D	0.186555	0.975399	0.25436	N	-0.69	0.01958	N	1.23	0.36872	T	-1.29	0.34596	N	0.278	0.41557	-0.9854	0.33735	T	0.019	0.07753	T	10	0.07423881	0.11323	T	0.007097	0.18814	T	0.106	0.30130	0.115	0.02372	0.193917141947	0.19028	0.294190802034136	0.29332	0.367247743163	0.38280	0.381318032742	0.22443	T	0.100848	0.40705	T	-0.128186	0.31790	T	-0.421907	0.30857	T	0.805797040462494	0.46752	D	0.690631	0.30012	T	0.18564777	0.39937	0.27989393	0.53961	0.18564777	0.39937	0.27989393	0.53960	-2.351	0.04841	T	.	.	0.073	0.04847	B	.;.	.;.	2.833581	0.37365	20.5	0.92317833822273199	0.21712	0.69706	0.34294	D	ALL	0.330868	0.43077	N	-0.403127132048559	0.25359	1.376035	-0.206891765604945	0.31288	1.769275	0.999999994380304	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.232529	0.04895	2	0.648885	0.59868	0	.	.	6.16	2.48	0.29194	2.763000	0.47287	5.523000	0.48827	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.3582:0.0:0.0:0.6418	11.844	0.51647	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	791.98	85	chr1	70044072	.	A	C	791.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=778;ExcessHet=0.0000;FS=0.822;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.32;ReadPosRankSum=1.43;SOR=0.586	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1270	20	0	1	0
chr1	70952979	70952979	G	-	exonic	PTGER3	.	frameshift deletion	PTGER3:NM_198718:exon4:c.1185delC:p.N395Kfs*9,	.	.	438	1070	13	1	0	15	0.00696056	.	.	696867	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0063	0.00219649	0.0053	0.0009	0.0030	0	0.0091	0.0077	0.0044	0.0008	0.0009605	25	26028	rs568967213	0.0080	0.0081	0.0082	0.0079	0.0095	0.0079	0.0079	0.0093	0.0093	0.0011	0.0031	0.0036	0	0.0085	0.0052	0.0095	0.0064	0.0011	0.0057	0.0057	0.0059	0.0055	0.0090	0.0054	0.0052	0.0084	0.0082	0.0011	0	0.0052	0.0049	0	0.0087	0.0068	0.0090	0.0043	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2625.94	38	chr1	70952978	.	TG	T	2625.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.310e-01;DP=868;ExcessHet=0.0000;FS=1.191;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.67;ReadPosRankSum=-3.140e-01;SOR=0.577	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1212	20	0	1	0
chr1	74199718	74199718	A	T	exonic	FPGT;FPGT-TNNI3K	.	nonsynonymous SNV	FPGT-TNNI3K:NM_001112808:exon2:c.A137T:p.D46V	.	.	432	1088	1	1	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.999	D	0.000	D	1.000	D	2.25	M	1.25	T	0.274	D	0.593	D	0.879	4.275	22.3	4.9	1.959	8.030	13.826	0.801	0.124791761772	.	0.000199681	0.0002	0	0	0	0	0	0	0.0016	0.0001746	27	154602	rs200157650	0.0001	0.0001	5.99e-05	0.0001	0.0016	8.915e-05	8.4e-05	0.0014	0.0013	0	0	0	0	0	0.0005	3.597e-06	6.623e-05	0.0016	3.282e-05	3.281e-05	2.569e-05	4.027e-05	0.0006	1.26e-05	7.97e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0006	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000004	0.62929	D	0.000000	1	0.81001	D	3.015	0.86134	M	0.75	0.80214	T	-8.21	0.96839	D	0.906	0.94077	0.274	0.87137	D	0.593	0.85443	D	10	0.38090742	0.54186	T	0.124792	0.80621	D	0.801	0.93504	0.735	0.86806	0.89821584579	0.89720	0.6816163961021032	0.68100	0.203387455224	0.22757	.	.	.	.	.	.	0.102659	0.64579	D	0.355671	0.90539	D	0.485459995347913	0.32097	T	0.928207	0.76932	D	0.3590659	0.57765	0.29257205	0.55284	0.3590659	0.57765	0.29257205	0.55283	-13.283	0.90494	D	.	.	0.866	0.82527	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.074680	0.84663	28.4	0.99382895399208226	0.61979	0.97990	0.78686	D	AEFDGBHCI	0.911593	0.87107	D	0.715243872711393	0.80630	7.337372	0.684256604315644	0.81182	7.467602	0.999999999999998	0.74766	0.732398	0.92422	0	0.662677	0.63036	0	0.653264	0.51672	0	0.727631	0.95156	0	.	.	4.9	4.9	0.63643	7.978000	0.87686	11.175000	0.88104	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.826	0.62844	940	0.13648	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2870.11	35	chr1	74199718	.	A	T	2870.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.797;DP=891;ExcessHet=0.1072;FS=2.983;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=-4.630e-01;SOR=0.925	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1123	19	0	2	0
chr1	74331517	74331517	T	C	exonic	FPGT-TNNI3K;TNNI3K	.	nonsynonymous SNV	TNNI3K:NM_015978:exon6:c.T512C:p.L171S	.	.	422	1092	8	0	0	8	0.00364964	.	.	1274643	not_provided|TNNI3K-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.73	H	-1.57	D	0.825	D	0.782	D	0.964	2.930	15.77	5.3	2.228	7.113	15.060	0.823	0.137056928348	0.0014	0.000399361	0.0019	0.0003	0.0002	0	0.0067	0.0023	0.0012	0.0015	0.0015782	244	154602	rs6685961	0.0016	0.0016	0.0015	0.0017	0.0019	0.0016	0.0015	0.0017	0.0016	0.0001	0.0002	0.0001	2.52e-05	0.0064	0.0014	0.0016	0.0011	0.0019	0.0017	0.0017	0.0013	0.0021	0.0022	0.0015	0.0014	0.0019	0.0018	0.0003	0	0.0001	0	0	0.0075	0	0.0022	0.0005	0.0017	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000003	0.62929	D	0.000000	0.999978	0.53665	D	4.21	0.97867	H	-1.57	0.81900	D	-1.47	0.84035	N	0.962	0.97426	0.825	0.94722	D	0.782	0.92582	D	10	0.0842258	0.14094	T	0.137057	0.81954	D	0.823	0.94353	.	.	0.928103106811	0.92737	0.829820379164502	0.88937	0.209520041856	0.23420	.	.	.	0.129496	0.45781	T	0.105013	0.64830	D	0.378334	0.91369	D	0.141161201346818	0.16375	T	0.905909	0.67374	D	0.4214765	0.62190	0.55142474	0.74061	0.4214765	0.62190	0.55142474	0.74062	-12.476	0.87092	D	0.6818530659903429	0.75835	0.971	0.89712	P	.;.;.;.	.;.;.;.	4.218686	0.63791	24.6	0.99797220000800857	0.88194	0.98765	0.86563	D	AEFI	0.777398	0.71022	D	0.792859864049708	0.85658	8.641869	0.654091549023629	0.78916	6.973497	0.995566134134972	0.34196	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.3	5.3	0.74745	7.081000	0.76522	5.033000	0.46843	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.153000	0.20410	0.0:0.0:0.0:1.0	15.060	0.71608	934	0.15400	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1012.98	46	chr1	74331517	.	T	C	1012.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.589e+00;DP=848;ExcessHet=0.0000;FS=2.303;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.04;ReadPosRankSum=-3.640e-01;SOR=0.508	GT:AD:DP:GQ:PL	0/1:76,50:126:99:1027,0,1853	20	0	1	0
chr1	74342947	74342947	C	T	exonic	FPGT-TNNI3K;TNNI3K	.	nonsynonymous SNV	TNNI3K:NM_015978:exon8:c.C788T:p.P263L	.	.	427	1067	26	2	0	30	0.0138632	.	.	696872	not_provided|Atrial_conduction_disease	MedGen:C3661900|MONDO:MONDO:0014500,MedGen:C4015285,OMIM:616117,Orphanet:436242	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.999	D	0.943	D	0.000	D	1.000	D	0.895	L	-0.01	T	-0.610	T	0.262	T	0.94	3.185	16.66	5.77	2.745	7.386	19.993	0.378	0.0767576891497	0.0016	0.00199681	0.0025	0.0002	0.0013	0	0	0.0019	0.0044	0.0090	0.0022315	345	154602	rs34521608	0.0026	0.0026	0.0023	0.0029	0.0165	0.0025	0.0025	0.0138	0.0128	0.0006	0.0015	0.0012	0	7.49e-05	0.0165	0.0023	0.0031	0.0095	0.0016	0.0016	0.0016	0.0017	0.0114	0.0015	0.0014	0.0090	0.0081	0.0005	0	0.0015	0.0012	0.0002	9.42e-05	0.0102	0.0020	0.0014	0.0114	0.022	0.48642	D	0.059	0.45961	T	0.722	0.42387	P	0.403	0.44588	B	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.055	0.04927	N	-0.01	0.62762	T	-1.62	0.58248	N	0.955	0.96416	-0.6102	0.64395	T	0.262	0.63318	T	10	0.013804257	0.00292	T	0.076758	0.72609	D	0.378	0.69612	.	.	0.638346370533	0.63536	0.6004284499326362	0.71489	0.192949307211	0.21626	.	.	.	0.044455	0.26820	T	-0.0517454	0.44182	T	0.159434	0.80771	D	0.0449530240829002	0.04593	T	0.945205	0.79148	D	0.13290952	0.30932	0.20013842	0.43930	0.13290952	0.30932	0.20013842	0.43929	-5.565	0.42471	T	0.182040433934308	0.23502	0.225	0.45653	B	.;.;.;.	.;.;.;.	3.397250	0.47066	22.4	0.99845342544875071	0.92489	0.94974	0.62981	D	AEFCI	0.878053	0.80307	D	0.29673531893245	0.55983	3.762492	0.370422426686489	0.59748	4.155245	0.999999861989603	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	5.77	5.77	0.91077	7.467000	0.79942	5.986000	0.52250	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.135000	0.19760	0.0:1.0:0.0:0.0	19.993	0.97375	903	0.23940	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2482.98	208	chr1	74342947	.	C	T	2482.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.040;DP=903;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=-2.110e-01;SOR=0.694	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1262	20	0	1	0
chr1	74463486	74463486	T	C	exonic	FPGT-TNNI3K;TNNI3K	.	nonsynonymous SNV	TNNI3K:NM_015978:exon21:c.T2057C:p.I686T	.	.	426	999	89	8	0	105	0.0499287	.	.	983822	TNNI3K-related_disorder|Atrial_conduction_disease|not_provided	.|MONDO:MONDO:0014500,MedGen:C4015285,OMIM:616117,Orphanet:436242|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.763	P	0.272	B	0.000	D	1.000	D	2.24	M	-1.58	D	0.007	D	0.428	T	0.732	3.531	18.02	5.91	2.260	7.394	16.002	0.612	.	0.0041	0.0209665	0.0169	0.0061	0.0302	0.0441	0.0219	0.0060	0.0220	0.0415	0.015058	2328	154602	rs3737564	0.0085	0.0085	0.0076	0.0095	0.0415	0.0084	0.0084	0.0398	0.0391	0.0061	0.0254	0.0086	0.0415	0.0209	0.0310	0.0034	0.0136	0.0386	0.0098	0.0098	0.0087	0.0109	0.0443	0.0094	0.0092	0.0394	0.0375	0.0060	0	0.0145	0.0101	0.0409	0.0220	0.0170	0.0042	0.0123	0.0443	0.677	0.78490	T	0.002	0.79402	D	0.684	0.41517	P	0.272	0.39956	B	0.000020	0.62929	D	0.116676	0.999935	0.52935	D	2.225	0.63025	M	-1.52	0.81987	D	1.58	0.67477	N	0.512	0.56403	0.007	0.82391	D	0.428	0.77088	T	10	0.008914053	0.00202	T	.	.	.	0.612	0.84826	.	.	.	.	0.6018879179360921	0.73885	0.0332647967301	0.03475	.	.	.	0.54971	0.84731	D	-0.123018	0.32630	T	0.0819324	0.75706	D	0.0199967337014551	0.00700	T	0.890111	0.62362	D	0.66958565	0.76410	0.6346558	0.78674	0.66958565	0.76412	0.6346558	0.78675	-8.973	0.67523	D	0.2936958081766033	0.39050	0.154	0.45883	B	.;.;.	.;.;.	3.562511	0.50129	22.9	0.99666196559818743	0.78266	0.97744	0.76819	D	AEFGBCIJ	0.860783	0.77871	D	0.518357775504104	0.68177	5.181282	0.592106041842497	0.74370	6.125954	0.999999998736648	0.74766	0.554377	0.28877	0	0.624306	0.53593	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.91	5.91	0.95240	7.443000	0.79636	3.381000	0.38003	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	16.002	0.80097	893	0.26510	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain;.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	931.98	37	chr1	74463486	.	T	C	931.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.708;DP=799;ExcessHet=0.0000;FS=2.628;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.41;ReadPosRankSum=-1.146e+00;SOR=0.875	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1340	20	0	1	0
chr1	74470631	74470631	T	A	exonic	LRRC53	.	nonsynonymous SNV	LRRC53:NM_001364666:exon4:c.A2895T:p.K965N	.	.	417	1102	2	0	1	3	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0103655502398	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs546580011	2.013e-05	1.113e-05	1.632e-05	2.384e-05	0.0006	7.89e-06	4.28e-06	0.0001	4.686e-05	0	0	0	0	0	0.0003	6.323e-06	6.04e-05	0.0006	4.6e-05	4.594e-05	3.857e-05	5.375e-05	0.0010	2.109e-05	1.527e-05	0.0004	0.0003	0	0	0	0	0	0	0	2.941e-05	0	0.0010	.	.	.	0.164	0.31026	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.57	0.54347	T	.	.	.	0.078	0.05287	.	.	.	.	.	.	.	0.03579682	0.01845	T	0.010366	0.26828	T	.	.	.	.	0.323886383625	0.31992	0.0024374868710400188	0.00225	.	.	.	.	.	3.47E-4	0.00097	T	-0.381154	0.03064	T	-0.785278	0.02298	T	.	.	.	0.273073	0.04629	T	0.024917426	0.01372	0.038721062	0.03805	0.024917426	0.01371	0.038721062	0.03804	-3.153	0.11915	T	.	.	0.095	0.14797	B	.	.	-0.676854	0.01376	0.078	0.34227933201694122	0.02082	0.01231	0.04354	N	AEFBIJ	0.043432	0.06866	N	.	.	.	.	.	.	0.150490691446347	0.17431	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.92	-8.83	0.00696	-0.974000	0.03904	-1.328000	0.05705	-0.311000	0.06080	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.3393:0.1506:0.256:0.254	0.412	0.00413	821	0.40814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2369.98	34	chr1	74470631	.	T	A	2369.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.411;DP=867;ExcessHet=0.0000;FS=3.513;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=-1.193e+00;SOR=0.913	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1280	20	0	1	0
chr1	74472097	74472097	T	C	exonic	LRRC53	.	nonsynonymous SNV	LRRC53:NM_001364666:exon4:c.A1429G:p.I477V	.	.	429	1086	6	1	0	8	0.00366972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.005	N	1.000	D	.	.	0.76	T	-0.949	T	0.090	T	0.087	1.733	11.75	3.66	0.492	0.482	2.357	0.062	0.0319734591994	.	0.00359425	0.0050	0.0010	0.0068	0	0.0018	0.0073	0	0.0048	0.001533	237	154602	rs61729305	0.0059	0.0053	0.0059	0.0058	0.0080	0.0057	0.0056	0.0077	0.0076	0.0015	0.0026	0.0030	0	0.0024	0.0022	0.0080	0.0064	0.0046	0.0047	0.0047	0.0048	0.0046	0.0081	0.0044	0.0043	0.0075	0.0073	0.0012	0.0099	0.0035	0.0023	0.0002	0.0017	0	0.0081	0.0047	0.0035	.	.	.	0.574	0.08685	T	.	.	.	.	.	.	0.004547	0.33627	N	0.205299	1	0.81001	D	.	.	.	0.39	0.57419	T	.	.	.	0.097	0.07811	-0.9486	0.41211	T	0.090	0.34628	T	7	0.0049051046	0.00105	T	0.031973	0.53925	D	.	.	.	.	0.200317383148	0.19677	0.005490662921900084	0.00519	.	.	.	.	.	0.001517	0.00960	T	-0.561082	0.00250	T	-0.5729	0.15184	T	0.0195086368587922	0.00655	T	0.312169	0.06100	T	0.020979108	0.00678	0.047809146	0.06966	0.020979108	0.00678	0.047809146	0.06965	-2.717	0.07447	T	.	.	0.071	0.03925	B	.	.	1.283606	0.16839	12.79	0.93930635729086343	0.23978	0.58730	0.30721	D	AEFI	0.123844	0.23964	N	-0.0513275220994506	0.39544	2.333618	0.00791451541929739	0.40080	2.38643	0.00132160600994955	0.08445	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.99	3.66	0.41111	0.473000	0.21843	0.943000	0.22867	-0.119000	0.14319	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.2588:0.072:0.1344:0.5348	2.357	0.04035	811	0.42639	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	951.98	36	chr1	74472097	.	T	C	951.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.702;DP=903;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.58;ReadPosRankSum=0.258;SOR=0.639	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	20	0	1	0
chr1	74472163	74472163	G	T	exonic	LRRC53	.	nonsynonymous SNV	LRRC53:NM_001364666:exon4:c.C1363A:p.P455T	.	.	433	1082	6	1	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	0.015	N	1.000	D	.	.	0.63	T	-0.960	T	0.108	T	0.058	0.643	7.452	0.85	0.134	1.530	3.903	0.028	0.0257575540798	.	0.00359425	0.0049	0.0011	0.0068	0	0.0018	0.0070	0	0.0048	0.0015136	234	154602	rs61729310	0.0058	0.0052	0.0058	0.0058	0.0079	0.0056	0.0056	0.0076	0.0075	0.0015	0.0026	0.0030	0	0.0024	0.0022	0.0079	0.0064	0.0045	0.0047	0.0047	0.0048	0.0046	0.0080	0.0044	0.0043	0.0075	0.0073	0.0011	0.0099	0.0035	0.0023	0.0002	0.0017	0	0.0080	0.0047	0.0035	0.004	0.65419	D	0.048	0.48594	D	.	.	.	.	.	.	0.015308	0.28282	N	0.261873	1	0.81001	D	.	.	.	0.63	0.53088	T	-0.51	0.15986	N	0.075	0.04913	-0.9603	0.39124	T	0.108	0.39197	T	7	0.006281346	0.00142	T	0.025758	0.48712	D	0.028	0.06331	.	.	0.128392430309	0.12331	0.05114640694569114	0.05056	.	.	.	.	.	0.006838	0.06266	T	-0.59295	0.00161	T	-0.618676	0.11289	T	0.0295997138996185	0.01929	T	0.512749	0.16428	T	0.038801152	0.05237	0.044930782	0.05932	0.038801152	0.05237	0.044930782	0.05931	-3.497	0.16389	T	.	.	0.075	0.05404	B	.	.	0.686234	0.10548	7.258	0.94582537496475061	0.25126	0.71561	0.35066	D	AEFI	0.154549	0.27959	N	-0.482390221116792	0.22658	1.211404	-0.499432534366444	0.22170	1.202838	3.60166759752151E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.88	0.85	0.18119	1.547000	0.35798	0.308000	0.17052	-0.949000	0.02041	1.000000	0.71638	0.016000	0.20520	0.163000	0.20749	0.3341:0.0:0.4676:0.1984	3.903	0.08671	811	0.42639	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	755.98	36	chr1	74472163	.	G	T	755.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.42;DP=870;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.11;ReadPosRankSum=-5.310e-01;SOR=0.677	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	20	0	1	0
chr1	74475582	74475582	A	T	exonic	LRRC53	.	nonsynonymous SNV	LRRC53:NM_001364666:exon3:c.T1037A:p.L346H	.	.	432	1080	10	0	0	10	0.00460829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	0.382	N	1.000	D	.	.	0.78	T	-0.986	T	0.090	T	0.235	3.175	16.62	2.04	0.394	0.665	4.113	0.032	.	.	0.0133786	0.0040	0.0414	0.0101	0	0	0.0032	0	0.0004	0.0012096	187	154602	rs45557838	0.0024	0.0021	0.0027	0.0021	0.0282	0.0022	0.0022	0.0260	0.0252	0.0282	0.0047	0.0068	0	2.084e-05	0.0113	0.0010	0.0057	0.0006	0.0096	0.0096	0.0101	0.0091	0.0292	0.0092	0.0090	0.0278	0.0273	0.0292	0	0.0082	0.0058	0	0	0.0034	0.0012	0.0095	0	0.0	0.91255	D	0.07	0.43721	T	.	.	.	.	.	.	0.382268	0.13373	N	0.648881	1	0.81001	D	.	.	.	0.71	0.51228	T	-0.38	0.13418	N	0.195	0.21449	-0.9857	0.33663	T	0.090	0.34601	T	7	0.0037481189	0.00070	T	.	.	.	0.032	0.07718	.	.	0.580897126437	0.57760	0.3412029103263562	0.34033	.	.	.	.	.	0.006122	0.05559	T	-0.481311	0.00727	T	-0.440462	0.28757	T	0.0862041396811646	0.10761	T	0.349965	0.07784	T	0.10629314	0.25134	0.17097598	0.39245	0.10629314	0.25133	0.17097598	0.39245	-4.879	0.35498	T	.	.	0.132	0.28406	B	.	.	2.608816	0.33880	19.47	0.97660300965466684	0.35195	0.57992	0.30523	D	AEFI	0.105083	0.21006	N	0.0462076699306813	0.43969	2.679543	0.0700664199592395	0.43053	2.615025	2.11913784501737E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.6	2.04	0.25787	0.664000	0.24749	1.211000	0.24907	0.756000	0.94297	1.000000	0.71638	0.996000	0.32793	0.997000	0.79791	0.6827:0.0:0.1651:0.1522	4.113	0.09539	768	0.49510	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2693.98	147	chr1	74475582	.	A	T	2693.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.400e-01;DP=3814;ExcessHet=0.0000;FS=1.607;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=0.383;SOR=0.806	GT:AD:DP:GQ:PL	0/0:211,0:211:99:0,120,1800	20	0	1	0
chr1	74571758	74571758	C	T	exonic	ERICH3	.	nonsynonymous SNV	ERICH3:NM_001002912:exon14:c.G3952A:p.G1318R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.023	B	0.002	B	.	.	1.000	N	0	N	1.83	T	-0.932	T	0.007	T	0.054	-0.033	3.844	-3.16	-0.449	-2.005	3.393	0.007	0.000686013650127	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401686560	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	1.314e-05	1.313e-05	2.57e-05	0	0.0001	2.18e-06	8.2e-07	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	0.764	0.03441	T	0.588	0.08273	T	0.023	0.18885	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	1.83	0.24841	T	-1.11	0.28703	N	0.075	0.04913	-0.9323	0.43799	T	0.007	0.02478	T	9	0.04447055	0.03407	T	6.86E-4	0.00400	T	0.007	0.00512	0.192	0.10304	0.0551355673512	0.04727	0.0215250082123564	0.02105	0.0183167722778	0.01791	.	.	.	0.008606	0.07893	T	-0.392488	0.02592	T	-0.801558	0.01863	T	0.016540956526073	0.00417	T	0.510149	0.16261	T	0.043978594	0.06951	0.060442775	0.11511	0.043978594	0.06950	0.060442775	0.11510	-3.827	0.21208	T	.	.	0.077	0.06387	B	.	.	-0.724672	0.01264	0.066	0.55718582970030628	0.05401	0.01693	0.05392	N	AEFBCI	0.044569	0.07187	N	-1.61473113257578	0.01193	0.05184746	-1.69743587217927	0.01149	0.05166973	0.0431047847123111	0.14555	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.58	-3.16	0.04897	-2.295000	0.01224	-2.279000	0.03958	-1.358000	0.01184	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2397:0.2235:0.5369	3.393	0.06872	713	0.56348	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	8242.11	99	chr1	74571758	.	C	T	8242.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.45;DP=2231;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.76;ReadPosRankSum=1.88;SOR=0.658	GT:AD:DP:GQ:PL	0/0:118,0:118:99:0,120,1800	19	0	2	0
chr1	74620779	74620779	C	G	exonic	ERICH3	.	nonsynonymous SNV	ERICH3:NM_001002912:exon8:c.G955C:p.G319R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	1.000	D	2.455	M	1.06	T	-0.519	T	0.295	T	0.905	4.898	28.2	6.07	2.884	7.294	20.239	0.477	0.0520879069613	0.0008	0.000199681	0.0005	0.0003	0	0	0.0008	0.0007	0	0.0005	0.000511	79	154602	rs140864337	0.0009	0.0009	0.0009	0.0009	0.0011	0.0009	0.0008	0.0010	0.0010	5.988e-05	6.739e-05	0	0	0.0003	0	0.0011	0.0007	0.0005	0.0006	0.0006	0.0008	0.0004	0.0010	0.0005	0.0005	0.0008	0.0008	0.0004	0	0.0001	0	0.0004	0.0002	0	0.0010	0.0005	0.0004	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999998	0.58761	D	2.76	0.80626	M	1.06	0.53516	T	-7.5	0.95732	D	0.789	0.89020	-0.5190	0.67951	T	0.295	0.66688	T	9	0.5680914	0.65164	D	0.052088	0.64927	D	0.477	0.76881	.	.	0.651006993216	0.64810	0.6788003021805634	0.67819	0.150276442505	0.16946	.	.	.	0.354765	0.72187	T	0.00608828	0.52491	T	0.175371	0.81727	D	0.173584394277893	0.18820	T	0.963804	0.86607	D	0.6113043	0.73298	0.74860346	0.85140	0.6113043	0.73299	0.74860346	0.85141	-9.766	0.73984	D	.	.	0.974	0.89987	P	.;.	.;.	4.685411	0.75020	26.3	0.99938389338693179	0.99698	0.99032	0.90231	D	AEFGI	0.932643	0.92331	D	0.927202233574425	0.93028	11.77594	0.916050711058127	0.96234	14.45489	0.999999986151371	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.07	6.07	0.98675	7.376000	0.78918	7.645000	0.63394	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.239	0.98368	706	0.57215	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1220.98	33	chr1	74620779	.	C	G	1220.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.655e+00;DP=841;ExcessHet=0.0000;FS=3.351;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.01;ReadPosRankSum=0.240;SOR=1.065	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1329	20	0	1	0
chr1	74636325	74636325	T	A	exonic	ERICH3	.	nonsynonymous SNV	ERICH3:NM_001002912:exon6:c.A558T:p.R186S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.999	D	0.964	D	.	.	1.000	D	1.5	L	1.99	T	-1.137	T	0.055	T	0.346	2.125	13.06	3.02	0.979	2.870	10.020	0.145	0.0119124099734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.851e-07	6.84e-07	1.363e-06	0	9.004e-07	0	0	.	.	0	0	0	0	0	0	9.004e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.005	0.72224	D	0.999	0.77913	D	0.964	0.71005	D	.	.	.	.	0.906815	0.27590	N	2.52	0.73523	M	1.99	0.21666	T	-3.12	0.63782	D	0.31	0.34981	-1.1375	0.01454	T	0.055	0.23072	T	9	0.28409272	0.45991	T	0.011912	0.29998	T	0.145	0.38592	0.316	0.29258	0.202949470691	0.19918	0.3983524692414994	0.39750	0.143993551915	0.16260	.	.	.	0.156655	0.49893	T	-0.146028	0.28937	T	-0.447535	0.27969	T	0.969221234321594	0.68515	D	0.731927	0.34732	T	0.15137964	0.34416	0.21183683	0.45628	0.15137964	0.34416	0.21183683	0.45627	-3.714	0.19525	T	.	.	0.442	0.61816	A	.	.	3.367165	0.46514	22.3	0.99285562451083142	0.58078	0.89155	0.49451	D	AEFGI	0.355131	0.44697	N	0.0563613137277739	0.44436	2.71767	-0.0172800411652686	0.38934	2.301046	0.203273157130982	0.18150	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.65	3.02	0.33970	2.279000	0.43094	1.193000	0.24780	-0.120000	0.14102	0.999000	0.42656	1.000000	0.68203	0.308000	0.24690	0.0:0.1654:0.0:0.8346	10.020	0.41207	705	0.57330	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1328.98	35	chr1	74636325	.	T	A	1328.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.809;DP=800;ExcessHet=0.0000;FS=0.712;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.66;ReadPosRankSum=-1.216e+00;SOR=0.562	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1227	20	0	1	0
chr1	74706358	74706358	C	T	exonic	CRYZ	.	nonsynonymous SNV	CRYZ:NM_001134759:exon7:c.G517A:p.E173K	.	.	437	1047	36	2	0	40	0.0187441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.006	B	0.009	B	0.001	N	0.993	N	0.41	N	3.7	T	-0.967	T	0.021	T	0.172	0.172	4.927	1.91	0.504	1.680	10.032	0.036	.	0.0003	0.00379393	0.0028	9.664e-05	0.0005	0.0006	0	0.0006	0.0011	0.0179	0.002445	378	154602	rs149746412	0.0013	0.0014	0.0007	0.0020	0.0180	0.0013	0.0013	0.0173	0.0170	5.984e-05	0.0003	0.0014	0.0003	5.618e-05	0.0083	0.0002	0.0015	0.0180	0.0008	0.0009	0.0004	0.0013	0.0170	0.0007	0.0007	0.0140	0.0129	0.0001	0	0.0002	0.0009	0.0008	0	0.0068	0.0004	0.0024	0.0170	0.53	0.10909	T	0.701	0.05707	T	0.001	0.07471	B	0.001	0.04355	B	0.001396	0.39175	N	0.254298	0.998912	0.23718	N	0.505	0.13445	N	1.05	0.39990	T	-0.9	0.24244	N	0.097	0.15046	-0.9674	0.37733	T	0.021	0.08963	T	10	0.008682281	0.00197	T	.	.	.	0.036	0.09122	.	.	0.439870908748	0.43606	0.6728538042468933	0.67223	0.112942714915	0.12750	0.30759459734	0.11544	T	0.078006	0.35790	T	-0.543529	0.00319	T	-0.539238	0.18372	T	0.0046506914096409	0.00050	T	0.862114	0.59504	D	0.058851995	0.11889	0.062441003	0.12215	0.058851995	0.11888	0.062441003	0.12215	-7.303	0.58576	T	.	.	0.097	0.16756	B	.;.;.;.	.;.;.;.	1.152326	0.15405	11.83	0.86864422938112251	0.16825	0.43102	0.27024	N	AEFBI	0.073552	0.14716	N	-0.907138259915369	0.10674	0.5112207	-0.818598049181867	0.14045	0.7318515	0.172946808966609	0.17762	0.732398	0.92422	0	0.724815	0.89359	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.04	1.91	0.24841	1.368000	0.33820	1.957000	0.29917	-1.089000	0.01541	0.955000	0.33325	0.985000	0.30750	0.483000	0.28633	0.0:0.3499:0.4219:0.2281	10.032	0.41282	673	0.60677	.;Polyketide synthase, enoylreductase domain;Polyketide synthase, enoylreductase domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3243.11	38	chr1	74706358	.	C	T	3243.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.14;DP=1010;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=1.13;SOR=0.690	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	19	0	2	0
chr1	74724730	74724730	G	A	exonic	CRYZ	.	nonsynonymous SNV	CRYZ:NM_001130043:exon2:c.C92T:p.P31L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.985	D	0.000	D	1.000	D	2.635	M	0.44	T	-0.301	T	0.323	T	0.784	1.423	10.70	4.55	2.447	8.090	17.807	0.541	0.100499864816	.	.	6.606e-05	0	0.0002	0.0002	0	3.003e-05	0	0.0001	5.17e-05	8	154602	rs752243991	3.367e-05	3.831e-05	2.736e-05	4.005e-05	0.0002	2.578e-05	2.322e-05	0.0001	8.737e-05	3.017e-05	0	0	5.063e-05	0	0.0002	2.617e-05	1.663e-05	0.0002	1.316e-05	1.314e-05	2.572e-05	0	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.027	0.48186	D	0.026	0.56640	D	1.0	0.90584	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.355	0.91145	M	0.44	0.56609	T	-7.66	0.95603	D	0.871	0.86833	-0.3008	0.74963	T	0.323	0.69203	T	10	0.94029534	0.93356	D	0.101	0.77281	D	0.541	0.80842	0.708	0.84418	0.752388196393	0.75015	0.8533941179449992	0.85301	0.344204733655	0.36343	0.520662665367	0.41720	T	0.43691	0.78312	T	-0.00317809	0.51216	T	0.0370935	0.72739	D	0.909112751483917	0.56391	D	0.747125	0.36767	T	0.5269284	0.68656	0.25089705	0.50690	0.5269284	0.68657	0.25089705	0.50689	-11.08	0.80095	D	.	.	0.316	0.54434	B	.;.;.;.;.	.;.;.;.;.	4.153291	0.62320	24.4	0.96287814300598018	0.29305	0.98777	0.86718	D	AEFBI	0.878179	0.80328	D	0.50916249543331	0.67631	5.107	0.346954386331373	0.58324	4.00232	0.999999984768422	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.55	4.55	0.55429	8.316000	0.89903	11.627000	0.93669	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.026000	0.12556	0.0:0.0:1.0:0.0	17.807	0.88514	786	0.46839	Polyketide synthase, enoylreductase domain;Polyketide synthase, enoylreductase domain;.;Polyketide synthase, enoylreductase domain;Polyketide synthase, enoylreductase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1579.98	34	chr1	74724730	.	G	A	1579.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.115e+00;DP=819;ExcessHet=0.0000;FS=4.133;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=0.949;SOR=0.418	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1167	20	0	1	0
chr1	74733258	74733258	C	G	exonic	TYW3	.	nonsynonymous SNV	TYW3:NM_001162916:exon1:c.C14G:p.A5G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.135	B	0.051	B	0.007	N	1.000	N	1.21	L	1.47	T	-1.097	T	0.038	T	0.043	1.410	10.65	3.65	2.373	0.768	9.750	0.059	0.0111027846587	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482245307	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.987e-05	2.3e-07	9e-08	.	.	2.987e-05	0	0	0	0	0	0	0	1.16e-05	6.572e-06	6.567e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.161	0.23631	T	0.223	0.25670	T	0.053	0.22573	B	0.019	0.18783	B	0.007284	0.31484	N	0.338048	1	0.81001	D	1.445	0.36358	L	0.88	0.46028	T	-1.13	0.29727	N	0.161	0.16864	-1.0973	0.04433	T	0.038	0.16462	T	10	0.10139492	0.18522	T	0.011103	0.28373	T	0.059	0.16972	0.447	0.50629	0.151104730317	0.14643	0.1690662602412085	0.16826	0.107556152289	0.12137	0.373705804348	0.21362	T	0.006799	0.06227	T	-0.286382	0.10002	T	-0.649145	0.09015	T	0.237311884760857	0.22295	T	0.646635	0.25786	T	0.15140831	0.34421	0.20996171	0.45363	0.15140831	0.34421	0.20996171	0.45362	-4.668	0.34603	T	.	.	0.120	0.24800	B	.;.	.;.	1.874762	0.23817	16.16	0.98597128175669213	0.43454	0.14961	0.18674	N	ALL	0.150379	0.27466	N	-0.452724377970408	0.23648	1.271365	-0.388588313695473	0.25336	1.392699	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.6	3.65	0.40985	1.482000	0.35094	1.342000	0.25744	0.524000	0.24156	0.727000	0.28892	0.414000	0.24773	0.135000	0.19760	0.0:0.7707:0.2293:0.0	9.750	0.39640	775	0.48401	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	632.98	43	chr1	74733258	.	C	G	632.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.968;DP=795;ExcessHet=0.0000;FS=0.880;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.44;ReadPosRankSum=0.454;SOR=0.824	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1250	20	0	1	0
chr1	75211489	75211489	C	G	exonic	SLC44A5	.	nonsynonymous SNV	SLC44A5:NM_001320283:exon21:c.G2008C:p.E670Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.578	P	0.574	P	0.000	D	1.000	D	1.445	L	1.92	T	-1.095	T	0.071	T	0.346	4.280	22.4	5.29	2.624	5.778	19.273	0.182	0.0167415986855	.	0.000199681	0.0001	0	0	0	0	0	0.0011	0.0010	0.0001229	19	154602	rs529370554	6.712e-05	6.84e-05	4.089e-05	9.361e-05	0.0011	5.635e-05	5.178e-05	0.0009	0.0009	0	0	0	0	0	0	0	3.317e-05	0.0011	1.314e-05	1.312e-05	0	2.688e-05	0.0004	2.18e-06	8.2e-07	7.301e-05	3.033e-05	0	0	0	0	0	0	0	0	0	0.0004	0.003	0.68238	D	0.003	0.76473	D	0.578	0.38765	P	0.491	0.47360	P	0.000006	0.62929	D	0.139939	0.999634	0.47961	D	2.38	0.68558	M	1.92	0.23082	T	-2.06	0.47175	N	0.477	0.51226	-1.0948	0.04781	T	0.071	0.29001	T	10	0.20886403	0.37230	T	0.016742	0.38138	T	0.182	0.45420	0.812	0.92788	0.218112801441	0.21410	0.8147291156271964	0.81428	0.676404375301	0.59761	0.444689273834	0.31218	T	0.084167	0.37217	T	-0.389819	0.02698	T	-0.378276	0.35925	T	0.404121071100235	0.29097	T	0.974503	0.90930	D	0.3762319	0.59042	0.3598018	0.61433	0.3762319	0.59043	0.3598018	0.61432	-4.225	0.28008	T	.	.	0.366	0.61572	A	.;.	.;.	3.823740	0.55226	23.6	0.99801358922064076	0.88639	0.98720	0.85993	D	AEFI	0.869478	0.79003	D	0.418261551130261	0.62427	4.458352	0.501747967862486	0.68110	5.174795	0.999999884977266	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.29	5.29	0.74430	5.854000	0.69242	6.012000	0.52660	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	19.273	0.94005	749	0.51929	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1024.98	35	chr1	75211489	.	C	G	1024.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=-9.700e-02;SOR=0.704	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	20	0	1	0
chr1	75761267	75761267	T	C	exonic	ACADM	.	nonsynonymous SNV	ACADM:NM_001286044:exon8:c.T524C:p.I175T	Acyl-CoA dehydrogenase, medium chain, deficiency of, Autosomal recessive	.	0	1501	21	0	0	21	0.00694674	.	.	98164	Inborn_genetic_diseases|Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008721,MedGen:C0220710,OMIM:201450,Orphanet:42|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.011	B	0.305	B	0.000	D	1.000	D	-1.62	N	-3.81	D	-0.409	T	0.391	T	0.769	1.404	10.63	5.3	2.127	3.770	14.384	0.581	0.0754163328048	0.0004	.	0.0004	0	8.637e-05	0	0	0.0005	0	0.0012	0.0003622	56	154602	rs150710061	0.0004	0.0004	0.0004	0.0005	0.0026	0.0004	0.0004	0.0016	0.0013	0.0002	0.0002	0.0012	0.0002	0	0.0026	0.0004	0.0005	0.0014	0.0003	0.0003	0.0003	0.0004	0.0005	0.0003	0.0002	0.0004	0.0003	9.646e-05	0	0.0002	0.0020	0.0002	0	0	0.0005	0.0005	0.0002	0.746	0.05002	T	0.631	0.07842	T	0.011	0.15914	B	0.021	0.41207	B	0.000000	0.84330	D	0.048394	0.999999	0.58761	D	-0.21	0.04010	N	-3.81	0.95728	D	-2.42	0.53096	N	0.367	0.46368	-0.4086	0.71755	T	0.391	0.74503	T	10	0.081932575	0.13467	T	0.075416	0.72282	D	0.581	0.83137	.	.	0.919890219729	0.91908	0.9337390151556569	0.93352	0.253000470629	0.27868	0.459393918514	0.33227	T	0.606579	0.94710	D	-0.0116757	0.50031	T	0.169919	0.81404	D	0.0464885197579861	0.04873	T	0.89581	0.63970	D	0.4626909	0.64838	0.2550065	0.51175	0.4657476	0.65029	0.2812008	0.54099	-4.405	0.29840	T	0.09664777496424153	0.06712	0.120	0.26855	B	.;.;.;.	.;.;.;.	3.018466	0.40391	21.2	0.86618063593244676	0.16657	0.93533	0.58476	D	AEFBI	0.738786	0.68355	D	-0.51731984107653	0.21519	1.142655	-0.21079234081159	0.31146	1.760027	0.993409396813185	0.33202	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.3	5.3	0.74745	3.734000	0.54760	1.914000	0.29665	0.665000	0.62972	1.000000	0.71638	0.966000	0.29516	0.995000	0.73285	0.0:0.0:0.0:1.0	14.384	0.66500	784	0.47045	Acyl-CoA dehydrogenase/oxidase C-terminal;Acyl-CoA dehydrogenase/oxidase C-terminal;Acyl-CoA dehydrogenase/oxidase C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2542.11	34	chr1	75761267	.	T	C	2542.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.410e-01;DP=864;ExcessHet=0.1072;FS=3.043;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=0.545;SOR=0.804	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1113	19	0	2	0
chr1	76412329	76412329	A	G	exonic	ST6GALNAC3	.	nonsynonymous SNV	ST6GALNAC3:NM_001349105:exon2:c.A340G:p.I114V	.	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.003	B	0.006	B	0.098	N	1.000	N	-0.395	N	1.59	T	-0.946	T	0.008	T	0.037	-1.137	0.112	-5.93	-0.775	-0.079	10.454	0.020	0.00338650865493	0.0015	0.00139776	0.0032	0.0004	0.0003	0	0.0082	0.0045	0.0011	0.0020	0.0030271	468	154602	rs142883428	0.0028	0.0028	0.0029	0.0028	0.0031	0.0028	0.0027	0.0030	0.0030	0.0003	0.0004	0.0009	0	0.0071	0.0003	0.0031	0.0019	0.0015	0.0023	0.0023	0.0020	0.0026	0.0033	0.0021	0.0020	0.0029	0.0028	0.0003	0.0099	0.0005	0.0006	0	0.0084	0.0034	0.0033	0.0009	0.0015	1.0	0.00964	T	1.0	0.17014	T	0.0	0.02946	B	0.006	0.12133	B	0.098416	0.19982	N	0.539002	1	0.08975	N	-0.305	0.03614	N	1.59	0.28836	T	0.1	0.05810	N	0.034	0.00942	-0.9457	0.41698	T	0.008	0.02720	T	10	0.009588122	0.00216	T	0.003387	0.07603	T	0.020	0.03691	.	.	0.0138822411134	0.00435	0.3574485032854796	0.35658	0.0562389328225	0.06208	0.278018712997	0.07217	T	0.008451	0.07757	T	-0.703606	0.00035	T	-0.783978	0.02335	T	0.000168125799973495	0.00001	T	0.264174	0.04286	T	0.018783055	0.00402	0.030566828	0.01528	0.018783055	0.00401	0.030566828	0.01528	-3.642	0.18466	T	.	.	0.065	0.01934	B	.;.	.;.	-1.090837	0.00651	0.018	0.23080703536851194	0.00959	0.06118	0.12095	N	AEFBI	0.074124	0.14848	N	-1.58629747341855	0.01334	0.05812722	-1.58568437862944	0.01743	0.07925105	0.00460367944605584	0.10636	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	6.04	-5.93	0.02067	-0.077000	0.11356	-0.146000	0.11468	-0.793000	0.03229	0.000000	0.06391	0.000000	0.08366	0.090000	0.17789	0.429:0.0948:0.4762:0.0	10.454	0.43728	658	0.62094	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1985.98	33	chr1	76412329	.	A	G	1985.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.17;DP=835;ExcessHet=0.0000;FS=2.887;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=6.000e-03;SOR=0.499	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1290	20	0	1	0
chr1	77568390	77568390	T	C	exonic	ZZZ3	.	nonsynonymous SNV	ZZZ3:NM_001376151:exon11:c.A2405G:p.K802R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.197	B	0.084	B	0.000	D	1.000	D	0.55	N	.	.	-1.064	T	0.058	T	0.149	2.523	14.40	4.57	2.299	4.609	10.37	0.194	0.00291864408177	.	0.000599042	0.0004	0	0.0002	0	0	0.0003	0	0.0020	0.0003881	60	154602	rs201394025	0.0003	0.0003	0.0002	0.0004	0.0021	0.0003	0.0002	0.0019	0.0018	3.076e-05	0	0	2.575e-05	0	0	0.0002	0.0001	0.0021	0.0002	0.0002	0.0002	0.0001	0.0017	0.0001	0.0001	0.0008	0.0006	2.412e-05	0	0	0	0	0	0	0.0002	0	0.0017	0.175	0.22400	T	0.316	0.19362	T	.	.	.	.	.	.	0.000004	0.62929	D	0.104568	0.999846	0.52396	D	.	.	.	.	.	.	-1.06	0.29525	N	0.301	0.36148	-1.0640	0.10784	T	0.058	0.24465	T	9	0.01291284	0.00276	T	0.002919	0.06192	T	0.194	0.47447	.	.	0.138757226776	0.13463	.	.	0.18397030042	0.20688	0.587161898613	0.51095	T	.	.	.	-0.423146	0.01634	T	-0.399611	0.33430	T	0.0553032621870525	0.06408	T	0.816918	0.48813	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.14108	B	.;.	.;.	4.024953	0.59480	24.1	0.99482886449425856	0.67014	0.97025	0.72256	D	AEFBI	0.570935	0.57512	D	-0.0813659577603293	0.38209	2.23445	0.12370383326168	0.45765	2.833832	0.490667273183627	0.20860	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.7	4.57	0.55860	4.593000	0.60743	5.889000	0.50737	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1284:0.0:0.8716	10.37	0.43232	642	0.63909	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	392.98	37	chr1	77568390	.	T	C	392.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.515e+00;DP=825;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.86;MQRankSum=0.00;QD=7.56;ReadPosRankSum=-9.170e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,112,1191	20	0	1	0
chr1	77632566	77632566	G	T	exonic	ZZZ3	.	nonsynonymous SNV	ZZZ3:NM_001376151:exon3:c.C789A:p.D263E	.	.	.	.	.	.	.	.	.	.	.	2438123	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.116	B	0.084	B	0.000	D	1.000	D	1.845	L	.	.	-0.937	T	0.127	T	0.291	1.992	12.62	4.49	1.419	3.431	14.405	0.058	0.00670846347803	7.7e-05	0.000199681	2.472e-05	0	0	0	0	4.496e-05	0	0	3.88e-05	6	154602	rs368611525	6.567e-05	6.567e-05	7.351e-05	5.775e-05	8.944e-05	5.495e-05	5.107e-05	6.521e-05	6.081e-05	0	8.944e-05	0	0	0	0	7.914e-05	6.623e-05	0	4.597e-05	4.593e-05	5.14e-05	4.029e-05	7.35e-05	2.108e-05	1.526e-05	2.846e-05	1.858e-05	2.407e-05	0	6.537e-05	0	0	0	0	7.35e-05	0	0	0.003	0.68238	D	0.338	0.18125	T	.	.	.	.	.	.	0.000188	0.48115	D	0.212673	0.999859	0.81001	D	.	.	.	.	.	.	-0.81	0.22294	N	0.202	0.22357	-0.9367	0.43134	T	0.127	0.43360	T	8	0.04912427	0.04458	T	0.006708	0.17727	T	0.058	0.16647	0.35	0.34760	0.0675242888579	0.06100	.	.	0.201892751584	0.22604	0.409118115902	0.26334	T	.	.	.	-0.213649	0.18869	T	-0.318967	0.42687	T	0.0864090498047595	0.10786	T	0.763624	0.39028	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.25396	B	.	.	2.600232	0.33751	19.43	0.98706435392408121	0.44982	0.96110	0.67578	D	AEFBI	0.371842	0.45770	N	-0.188588438190384	0.33607	1.908673	-0.037221725365323	0.38049	2.236177	0.626143609063516	0.21928	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	4.49	0.54177	3.578000	0.53638	6.607000	0.56075	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0714:0.0:0.9286:0.0	14.405	0.66648	647	0.63344	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2947.98	37	chr1	77632566	.	G	T	2947.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.750e-01;DP=905;ExcessHet=0.0000;FS=12.063;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.81;ReadPosRankSum=0.653;SOR=0.291	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1271	20	0	1	0
chr1	77935995	77935995	G	C	exonic	NEXN	.	nonsynonymous SNV	NEXN:NM_001172309:exon10:c.G1232C:p.R411T	Cardiomyopathy, dilated, 1CC, Autosomal dominant;Cardiomyopathy, hypertrophic, 20, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3414299	Hypertrophic_cardiomyopathy_2	MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0.47	T	0.973	D	0.648	P	0.000	D	1.000	D	1.735	L	0.31	T	-0.963	T	0.154	T	0.348	4.133	21.3	6.03	2.868	6.514	13.716	0.138	0.0164858304763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.56456	D	0.046	0.49120	D	0.973	0.57599	D	0.585	0.50320	P	0.000023	0.55875	D	0.000000	0.905979	0.36288	D	2.015	0.55033	M	0.19	0.60236	T	-1.01	0.29933	N	0.455	0.49237	-0.9629	0.38625	T	0.154	0.48378	T	10	0.34226173	0.51261	T	0.016486	0.37771	T	0.138	0.37187	0.392	0.41606	0.693294191124	0.69065	0.13722819317445287	0.13646	0.192239442232	0.21553	0.485696047544	0.36842	T	0.018272	0.14759	T	-0.0193476	0.48946	T	-0.265568	0.48267	T	0.786236812373274	0.45445	D	0.978102	0.92255	D	0.10524542	0.24882	0.1166717	0.28166	0.10524542	0.24882	0.1166717	0.28165	-6.321	0.50449	T	0.2120513649046057	0.28444	0.679	0.72087	P	.;.	.;.	4.374991	0.67387	25.1	0.9810877380999008	0.38334	0.98337	0.81764	D	AEFBI	0.814499	0.73671	D	0.543291857114929	0.69675	5.390713	0.620374817542519	0.76421	6.487894	0.998533369466999	0.37148	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	6.03	6.03	0.97798	6.641000	0.74179	8.621000	0.77811	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0699:0.0:0.9301:0.0	13.716	0.62178	725	0.54935	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2105	335.55	22	chr1	77935995	.	G	C,A	335.55	.	AC=4,4;AF=0.105,0.105;AN=38;BaseQRankSum=-2.969e+00;DP=769;ExcessHet=3.5521;FS=215.270;InbreedingCoeff=-0.2726;MLEAC=4,4;MLEAF=0.105,0.105;MQ=60.00;MQRankSum=0.00;QD=1.09;ReadPosRankSum=0.238;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,7,0:34:14:0|1:77935995_G_C:14,0,974,95,993,1088:77935995	11	0	4	2
chr1	77935995	77935995	G	A	exonic	NEXN	.	nonsynonymous SNV	NEXN:NM_001172309:exon10:c.G1232A:p.R411K	Cardiomyopathy, dilated, 1CC, Autosomal dominant;Cardiomyopathy, hypertrophic, 20, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.97	T	0.148	B	0.021	B	0.000	D	1.000	D	0.085	N	0.45	T	-1.052	T	0.041	T	0.151	1.673	11.55	6.03	2.868	6.514	13.716	0.094	0.00665660799398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.06847	T	0.764	0.04571	T	0.091	0.25247	B	0.016	0.17743	B	0.000023	0.55875	D	0.000000	0.606987	0.32587	D	0.975	0.24501	L	0.33	0.58323	T	0.77	0.02558	N	0.142	0.18103	-1.0525	0.13709	T	0.041	0.17488	T	10	0.12635311	0.24020	T	0.006657	0.17585	T	0.094	0.27141	0.272	0.22210	0.520586239559	0.51704	0.08362847643912337	0.08296	0.0483182337376	0.05281	0.503688514233	0.39341	T	0.007706	0.07099	T	-0.128727	0.31703	T	-0.422684	0.30769	T	0.675288915634155	0.39574	D	0.80142	0.44736	T	0.070407756	0.15505	0.08730277	0.20284	0.070407756	0.15505	0.08730277	0.20284	-3.317	0.14523	T	0.06871425045942398	0.02517	0.166	0.36554	B	.;.	.;.	2.462804	0.31732	18.83	0.92583887767275952	0.22042	0.94464	0.61249	D	AEFBI	0.704557	0.66024	D	-0.142333935333806	0.35562	2.044219	0.133413881396926	0.46268	2.875634	0.998533369466999	0.37148	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	6.03	6.03	0.97798	6.641000	0.74179	8.621000	0.77811	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0699:0.0:0.9301:0.0	13.716	0.62178	725	0.54935	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2105	335.55	22	chr1	77935995	.	G	C,A	335.55	.	AC=4,4;AF=0.105,0.105;AN=38;BaseQRankSum=-2.969e+00;DP=769;ExcessHet=3.5521;FS=215.270;InbreedingCoeff=-0.2726;MLEAC=4,4;MLEAF=0.105,0.105;MQ=60.00;MQRankSum=0.00;QD=1.09;ReadPosRankSum=0.238;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,7,0:34:14:0|1:77935995_G_C:14,0,974,95,993,1088:77935995	11	0	4	2
chr1	78492766	78492766	A	T	exonic	PTGFR	.	nonsynonymous SNV	PTGFR:NM_000959:exon2:c.A23T:p.Q8L	.	.	432	1070	20	0	0	20	0.00925926	.	.	719090	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.18	T	0.001	B	0.003	B	0.018	N	0.622	N	0.755	N	-0.99	T	-0.711	T	0.300	T	0.31	1.778	11.91	4.35	2.243	2.338	6.821	0.181	.	0.0041	0.00738818	0.0059	0.0006	0.0031	0.0013	0.0009	0.0046	0.0102	0.0224	0.0056079	867	154602	rs41292960	0.0051	0.0051	0.0046	0.0056	0.0191	0.0050	0.0050	0.0183	0.0180	0.0005	0.0042	0.0023	0.0025	0.0010	0.0158	0.0044	0.0057	0.0191	0.0041	0.0041	0.0038	0.0043	0.0205	0.0038	0.0037	0.0172	0.0160	0.0008	0	0.0067	0.0023	0.0017	0.0013	0.0170	0.0048	0.0090	0.0205	0.05	0.39575	D	0.164	0.45961	T	0.0	0.07471	B	0.0	0.08700	B	0.018422	0.27485	N	0.385314	0.622299	0.30769	N	1.1	0.28011	L	-2.53	0.89430	D	-1.34	0.33998	N	0.122	0.21969	-0.7105	0.59928	T	0.300	0.67166	T	10	0.003374815	0.00059	T	.	.	.	0.181	0.45247	.	.	0.419120893867	0.41530	0.47915917809288416	0.47835	0.209392805901	0.23407	0.331329494715	0.15136	T	0.170723	0.51857	T	-0.309677	0.07777	T	-0.20267	0.54392	T	0.0158607068693178	0.00372	T	0.659534	0.26859	T	0.096999705	0.22858	0.11808839	0.28506	0.096999705	0.22857	0.11808839	0.28505	-2.188	0.04441	T	.	.	0.080	0.07697	B	.;.;.	.;.;.	2.602499	0.33784	19.44	0.98998694768417228	0.50106	0.75837	0.37153	D	AEFBIJ	0.174670	0.30181	N	-0.189002705709389	0.33591	1.907492	-0.00394887460488699	0.39536	2.345695	0.999976573831492	0.50053	0.549168	0.22868	0	0.563428	0.19063	0	0.563428	0.18855	0	0.616125	0.45549	0	.	.	5.55	4.35	0.51454	3.044000	0.49520	6.687000	0.56329	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.835000	0.39381	0.6324:0.2477:0.0:0.1199	6.821	0.23038	280	0.88949	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1496.98	40	chr1	78492766	.	A	T	1496.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=816;ExcessHet=0.0000;FS=4.795;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.79;ReadPosRankSum=0.366;SOR=1.206	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1306	20	0	1	0
chr1	78635486	78635486	T	A	exonic	IFI44L	.	stopgain	IFI44L:NM_001375648:exon2:c.T99A:p.Y33X	.	.	411	1105	6	0	0	6	0.00270758	.	.	1311624	Multisystem_inflammatory_syndrome_in_children	MedGen:C5391534	no_assertion_criteria_provided	risk_factor	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	5.126	32	-2.24	-0.523	-1.222	9.426	.	.	0.0055	0.00259585	0.0053	0.0009	0.0030	0	0.0041	0.0079	0.0033	0.0025	0.0054527	843	154602	rs115901054	0.0066	0.0066	0.0068	0.0065	0.0075	0.0065	0.0065	0.0074	0.0073	0.0009	0.0034	0.0107	0.0001	0.0052	0.0064	0.0075	0.0058	0.0021	0.0047	0.0048	0.0050	0.0045	0.0076	0.0044	0.0043	0.0070	0.0068	0.0013	0.0044	0.0025	0.0081	0	0.0062	0.0034	0.0076	0.0043	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	0.000003	0.62929	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.838	0.83371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147132	0.68998	D	0.450892	0.93599	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant|Recessive	High|High	4.633495	0.73696	26.0	0.98933377569847369	0.48788	0.30156	0.24009	N	AEFBCI	0.161964	0.28809	N	-0.0494834913202156	0.39624	2.339809	-0.367723905673922	0.25967	1.431263	0.0279157749496221	0.13801	0.634777	0.41761	0	0.643519	0.57511	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	4.54	-2.24	0.06518	-1.512000	0.02362	-3.937000	0.02441	0.550000	0.28109	0.017000	0.19353	0.000000	0.08366	0.838000	0.39538	0.0:0.4319:0.0:0.5681	9.426	0.37742	590	0.68897	GTP binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	949.98	33	chr1	78635486	.	T	A	949.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.926e+00;DP=759;ExcessHet=0.0000;FS=4.994;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.18;ReadPosRankSum=-3.670e-01;SOR=1.394	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1113	20	0	1	0
chr1	78659463	78659463	G	A	exonic	IFI44	.	nonsynonymous SNV	IFI44:NM_006417:exon6:c.G992A:p.R331Q,	.	.	428	1079	13	2	0	17	0.00781609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.962	D	0.421	B	0.001	N	1.000	N	2.025	M	1.38	T	-1.036	T	0.040	T	0.156	1.107	9.517	-0.37	-0.058	0.042	7.418	0.087	.	0.0057	0.00559105	0.0052	0.0097	0.0031	0.0004	0.0008	0.0039	0.0035	0.0135	0.0049611	767	154602	rs115887090	0.0055	0.0055	0.0052	0.0057	0.0140	0.0054	0.0053	0.0134	0.0131	0.0102	0.0032	0.0006	0	0.0009	0.0134	0.0053	0.0051	0.0140	0.0060	0.0060	0.0065	0.0056	0.0104	0.0057	0.0056	0.0092	0.0089	0.0100	0	0.0061	0.0006	0	0.0006	0.0102	0.0050	0.0043	0.0104	0.338	0.12796	T	0.249	0.23776	T	0.8	0.44988	P	0.068	0.27651	B	0.000573	0.43250	N	0.154695	0.999964	0.18878	N	2.225	0.63025	M	1.38	0.34050	T	-1.44	0.35399	N	0.263	0.29774	-1.0365	0.18388	T	0.040	0.17149	T	10	0.007916838	0.00180	T	.	.	.	0.087	0.25287	.	.	0.371157983038	0.36729	0.6071427518928081	0.60646	0.0386921261483	0.04117	0.307418256998	0.11517	T	0.134354	0.46556	T	-0.547272	0.00303	T	-0.547219	0.17593	T	0.0271038299505792	0.01559	T	0.730727	0.34650	T	0.07218077	0.16038	0.04563375	0.06183	0.07218077	0.16038	0.04563375	0.06182	-5.745	0.44092	T	.	.	0.110	0.21125	B	.	.	0.988490	0.13663	10.20	0.99522333036057031	0.69346	0.05488	0.11373	N	AEFGBI	0.041429	0.06297	N	-0.599083455652914	0.18972	0.9893579	-0.787204677070631	0.14809	0.7757163	0.999903051043015	0.45458	0.722319	0.85440	0	0.698795	0.70079	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.66	-0.37	0.11906	0.036000	0.13706	-0.184000	0.11104	-0.289000	0.06313	0.165000	0.23867	0.000000	0.08366	0.001000	0.02609	0.4021:0.0:0.5979:0.0	7.418	0.26229	594	0.68584	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	639.98	33	chr1	78659463	.	G	A	639.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.810e-01;DP=746;ExcessHet=0.0000;FS=2.226;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=1.85;SOR=0.951	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1119	20	0	1	0
chr1	78662843	78662843	A	C	exonic	IFI44	.	nonsynonymous SNV	IFI44:NM_006417:exon8:c.A1253C:p.D418A,	.	.	434	1080	8	0	0	8	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.852	P	0.001	N	1.000	D	2.585	M	2.53	T	-0.496	T	0.284	T	0.589	3.712	18.85	3.52	1.811	5.577	10.396	0.244	.	0.0003	0.00239617	0.0011	0	0.0008	0.0001	0	0.0005	0.0022	0.0056	0.0009961	154	154602	rs140765185	0.0005	0.0005	0.0004	0.0007	0.0047	0.0005	0.0005	0.0043	0.0042	2.989e-05	0.0006	0	0	0	0.0014	0.0002	0.0006	0.0047	0.0004	0.0004	0.0003	0.0005	0.0057	0.0003	0.0003	0.0040	0.0034	0	0	0.0006	0	0	0	0	0.0003	0.0005	0.0057	0.004	0.65419	D	0.011	0.64786	D	0.997	0.70673	D	0.852	0.60758	P	0.001027	0.40562	N	0.201718	0.747721	0.33893	D	1.87	0.49600	L	2.53	0.14038	T	-6.11	0.90023	D	0.474	0.50958	-0.4956	0.68808	T	0.284	0.65577	T	10	0.013541102	0.00287	T	.	.	.	0.263	0.57612	.	.	0.561180645722	0.55780	0.49931070464097355	0.49852	0.070108175721	0.07852	0.504220962524	0.39416	T	0.42606	0.77597	T	-0.404799	0.02153	T	-0.352737	0.38891	T	0.10978070694871	0.13401	T	0.656934	0.26653	T	0.3441317	0.56606	0.28045133	0.54021	0.3441317	0.56606	0.28045133	0.54020	-11.98	0.84754	D	.	.	0.303	0.53261	B	.	.	3.667985	0.52141	23.2	0.99524717737305313	0.69469	0.97504	0.75178	D	AEFBI	0.565192	0.57168	D	0.290378289050092	0.55660	3.730057	0.266364551237066	0.53586	3.526791	0.999912636647348	0.45857	0.706548	0.73137	0	0.702456	0.74545	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.52	3.52	0.39415	5.313000	0.65584	5.453000	0.48651	0.649000	0.52879	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	1.0:0.0:0.0:0.0	10.396	0.43385	594	0.68584	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1141.98	40	chr1	78662843	.	A	C	1141.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.240e-01;DP=808;ExcessHet=0.0000;FS=0.793;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=0.545;SOR=0.566	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1155	20	0	1	0
chr1	81990481	81990481	G	T	exonic	ADGRL2	.	nonsynonymous SNV	ADGRL2:NM_012302:exon20:c.G3548T:p.G1183V	.	.	425	1055	42	0	0	42	0.0195167	.	.	3211183	ADGRL2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	1.495	L	-0.38	T	-0.807	T	0.191	T	0.571	1.647	11.47	4.6	1.284	7.343	16.018	0.362	.	0.0008	0.00259585	0.0021	9.61e-05	0.0005	0	0	0.0013	0.0055	0.0091	0.0018305	283	154602	rs143448377	0.0014	0.0014	0.0011	0.0016	0.0102	0.0013	0.0013	0.0083	0.0081	0.0001	0.0008	0.0030	2.519e-05	9.36e-05	0.0102	0.0008	0.0020	0.0088	0.0010	0.0010	0.0009	0.0011	0.0091	0.0009	0.0008	0.0070	0.0062	0.0002	0	0.0010	0.0012	0.0002	9.414e-05	0.0102	0.0010	0.0028	0.0091	0.001	0.78490	D	0.05	0.48594	T	0.995	0.67487	D	0.929	0.66367	D	0.000338	0.45700	D	0.187285	1	0.81001	D	.	.	.	-0.46	0.70597	T	-4.03	0.76740	D	0.684	0.70878	-0.8069	0.54736	T	0.191	0.54359	T	10	0.0074394643	0.00169	T	.	.	.	0.539	0.80723	.	.	0.082315109003	0.07666	0.4814075198055706	0.48060	0.567196384469	0.52991	0.55849480629	0.47055	T	0.067859	0.82202	T	-0.247787	0.14371	T	-0.122308	0.61613	T	0.141194857536656	0.16377	T	0.914708	0.73561	D	0.56956995	0.71037	0.5168769	0.72086	0.56956995	0.71038	0.5168769	0.72087	-3.675	0.22542	T	.	.	0.162	0.37633	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.611038	0.51059	23.0	0.99109637766004166	0.52699	0.92818	0.56620	D	AEFGBCI	0.951242	0.96562	D	0.221703935337338	0.52252	3.400531	0.261948915020974	0.53333	3.502685	0.999349580085339	0.39222	0.706548	0.73137	0	0.573888	0.26702	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.53	4.6	0.56512	7.460000	0.79850	8.639000	0.77885	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.483000	0.28633	0.0:0.1392:0.8607:0.0	16.018	0.80255	963	0.08280	GPCR, family 2, latrophilin, C-terminal;GPCR, family 2, latrophilin, C-terminal;.;.;GPCR, family 2, latrophilin, C-terminal;.;.;.;GPCR, family 2, latrophilin, C-terminal;GPCR, family 2, latrophilin, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	5990.68	35	chr1	81990481	.	G	T	5990.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.524;DP=1194;ExcessHet=0.3300;FS=1.111;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=0.895;SOR=0.825	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1340	18	0	3	0
chr1	81990915	81990915	C	G	exonic	ADGRL2	.	nonsynonymous SNV	ADGRL2:NM_012302:exon20:c.C3982G:p.P1328A	.	.	438	1046	37	1	0	39	0.0183013	.	.	3210903	ADGRL2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.17	T	0.128	B	0.075	B	0.160	N	1.000	N	1.445	L	-0.32	T	-0.960	T	0.114	T	0.176	0.697	7.721	5.25	2.467	4.434	18.884	0.057	.	0.0008	0.00239617	0.0018	9.617e-05	0.0005	0	0	0.0012	0.0055	0.0076	0.0016171	250	154602	rs142267708	0.0012	0.0012	0.0010	0.0015	0.0087	0.0012	0.0012	0.0072	0.0070	0.0001	0.0008	0.0030	0	9.361e-05	0.0087	0.0008	0.0019	0.0077	0.0009	0.0009	0.0008	0.0009	0.0077	0.0008	0.0007	0.0057	0.0051	0.0002	0	0.0009	0.0012	0.0002	9.407e-05	0.0102	0.0009	0.0024	0.0077	0.375	0.18061	T	0.206	0.27056	T	0.128	0.27003	B	0.075	0.28327	B	0.159877	0.17697	N	0.561955	1	0.81001	D	.	.	.	-0.42	0.70717	T	-2.27	0.50666	N	0.302	0.34120	-0.9602	0.39143	T	0.114	0.40650	T	10	0.0053347647	0.00117	T	.	.	.	0.112	0.31546	.	.	0.082315109003	0.07666	0.4140615702400013	0.41322	0.11031533871	0.12446	0.379887998104	0.22241	T	0.056903	0.80086	T	-0.416679	0.01797	T	-0.366741	0.37271	T	0.0454788217630323	0.04690	T	0.911709	0.69400	D	0.048075262	0.08320	0.07846932	0.17579	0.048075262	0.08320	0.07846932	0.17578	-4.424	0.32472	T	.	.	0.079	0.11461	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.688237	0.21508	15.23	0.84900520384378553	0.15565	0.43642	0.27143	N	AEFBCI	0.589979	0.58665	D	0.00965783698767059	0.42293	2.545568	-0.00654706581580577	0.39417	2.336899	0.999451034309693	0.39788	0.706548	0.73137	0	0.573888	0.26702	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	4.688000	0.61403	4.927000	0.46095	0.599000	0.40250	0.296000	0.25288	0.578000	0.25607	0.855000	0.40485	0.0:1.0:0.0:0.0	18.884	0.92338	963	0.08280	GPCR, family 2, latrophilin, C-terminal;GPCR, family 2, latrophilin, C-terminal;.;.;GPCR, family 2, latrophilin, C-terminal;.;.;.;GPCR, family 2, latrophilin, C-terminal;GPCR, family 2, latrophilin, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	6723.68	35	chr1	81990915	.	C	G	6723.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.83;DP=1120;ExcessHet=0.3300;FS=1.110;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=-1.236e+00;SOR=0.812	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1340	18	0	3	0
chr1	83890382	83890382	C	T	exonic	TTLL7	.	nonsynonymous SNV	TTLL7:NM_001350215:exon18:c.G2227A:p.V743I	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.991	D	0.000	D	1.000	D	2.175	M	3.3	T	-1.153	T	0.035	T	0.35	4.862	27.8	4.22	1.292	3.351	13.866	0.117	0.00776735757348	0.0011	0.00159744	0.0007	0.0038	0.0006	0	0	0.0005	0.0011	6.067e-05	0.0006209	96	154602	rs140612684	0.0005	0.0005	0.0004	0.0005	0.0046	0.0004	0.0004	0.0040	0.0038	0.0046	0.0008	3.83e-05	0	0	0.0043	0.0003	0.0009	3.479e-05	0.0015	0.0015	0.0016	0.0015	0.0037	0.0014	0.0013	0.0031	0.0029	0.0036	0	0.0037	0	0	0	0.0034	0.0003	0.0033	0	0.008	0.58626	D	0.0	0.92824	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999722	0.48557	D	1.975	0.53506	M	3.3	0.06368	T	-0.49	0.15578	N	0.243	0.27435	-1.1531	0.00935	T	0.035	0.15291	T	10	0.011839539	0.00257	T	0.007767	0.20616	T	0.117	0.32689	.	.	0.335164054921	0.33125	0.33840281834686275	0.33753	0.476932772482	0.46813	0.588005423546	0.51212	T	0.123299	0.44756	T	-0.477163	0.00769	T	-0.458469	0.26767	T	0.0131391999282904	0.00232	T	0.920308	0.71149	D	0.15282215	0.34671	0.14873174	0.35146	0.15282215	0.34671	0.14873174	0.35145	-5.376	0.40688	T	.	.	0.088	0.11749	B	.	.	2.808282	0.36963	20.4	0.9989831857943281	0.97048	0.94875	0.62633	D	AEFBI	0.555062	0.56565	D	0.58552290859763	0.72271	5.779432	0.530506584981695	0.70053	5.448916	0.999998941594132	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.550183	0.17644	0	.	.	5.12	4.22	0.49153	3.396000	0.52309	1.780000	0.28708	0.599000	0.40250	0.996000	0.39380	0.931000	0.28545	0.997000	0.79791	0.0:0.9261:0.0:0.0739	13.866	0.63090	942	0.12992	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	713.98	33	chr1	83890382	.	C	T	713.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.00;DP=751;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.82;ReadPosRankSum=2.04;SOR=0.693	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr1	84325641	84325641	A	T	exonic	SAMD13	.	nonsynonymous SNV	SAMD13:NM_001010971:exon3:c.A100T:p.M34L	.	.	428	1088	6	0	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.0	B	0.0	B	0.003	N	1.000	D	0	N	.	.	-1.085	T	0.030	T	0.303	0.803	8.223	1.38	0.278	0.481	8.482	0.061	0.00243783330396	.	.	8.263e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs767923942	4.818e-06	4.789e-06	5.483e-06	4.147e-06	0.0007	2e-06	1.29e-06	0.0002	0.0001	0	0	0	0	0	0.0007	2.717e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.752	0.05325	T	0.319	0.19539	T	0.0	0.02946	B	0.0	0.01387	B	0.003451	0.34930	N	0.268510	0.978664	0.25233	N	0	0.06538	N	.	.	.	-0.72	0.21215	N	0.222	0.24883	-1.0848	0.06444	T	0.030	0.13067	T	9	0.065009475	0.08706	T	0.002438	0.04813	T	0.061	0.17616	0.201	0.11522	0.215869574891	0.21205	0.4656222787575211	0.46481	0.441456143592	0.44131	0.350690275431	0.18023	T	0.019583	0.15574	T	-0.140025	0.29887	T	-0.438913	0.28929	T	0.0767798274755478	0.09571	T	0.723828	0.33737	T	0.08759566	0.20404	0.10950135	0.26392	0.08759566	0.20404	0.10950135	0.26391	-2.541	0.06068	T	.	.	0.089	0.13315	B	.;.;.;.;.;.	.;.;.;.;.;.	1.591042	0.20349	14.71	0.77204001264953925	0.11779	0.60745	0.31284	D	AEFBI	0.120247	0.23433	N	-0.561550915355276	0.20124	1.058504	-0.386443518692489	0.25399	1.396631	0.00300975381732485	0.09862	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.06	1.38	0.21262	0.425000	0.21065	1.328000	0.25649	0.754000	0.88378	0.996000	0.39380	0.998000	0.33993	1.000000	0.97212	0.5767:0.0:0.4233:0.0	8.482	0.32208	655	0.62421	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1863.98	36	chr1	84325641	.	A	T	1863.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=966;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.43;ReadPosRankSum=-4.810e-01;SOR=0.644	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr1	85045302	85045302	C	T	exonic	MCOLN3	.	nonsynonymous SNV	MCOLN3:NM_001253693:exon2:c.G59A:p.C20Y	.	.	427	1092	3	0	0	3	0.00137174	.	.	2356878	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.046	N	0.998	N	1.04	L	-0.99	T	-0.958	T	0.134	T	0.062	0.858	8.473	2.29	0.707	0.009	7.638	0.132	0.0167469506246	0.0004	.	0.0007	0	0.0004	0	0.0012	0.0010	0	0.0001	0.0005886	91	154602	rs147497215	0.0004	0.0004	0.0004	0.0005	0.0005	0.0004	0.0004	0.0004	0.0004	2.987e-05	0.0004	0.0070	0	0.0010	0.0003	0.0002	0.0008	0.0005	0.0005	0.0005	0.0004	0.0006	0.0007	0.0004	0.0004	0.0004	0.0004	0	0	0.0007	0.0052	0	0.0011	0	0.0005	0.0010	0.0002	0.125	0.27310	T	0.368	0.24913	T	0.0	0.02946	B	0.0	0.01387	B	0.045689	0.23511	N	0.508271	0.999985	0.22526	N	1.14	0.29013	L	-1.72	0.83241	D	-0.88	0.33798	N	0.175	0.24634	-0.9576	0.39626	T	0.134	0.44856	T	10	0.006939471	0.00158	T	0.016747	0.38152	T	0.132	0.35948	.	.	0.848652206473	0.84720	0.26327752878676386	0.26240	0.0897466238182	0.10134	0.437514722347	0.30238	T	0.107997	0.42066	T	-0.400393	0.02302	T	-0.465742	0.25976	T	0.0112365973927711	0.00165	T	0.593841	0.21938	T	0.11929244	0.28092	0.09726131	0.23144	0.11929244	0.28091	0.09726131	0.23143	-2.738	0.08425	T	.	.	0.057	0.03266	B	.;.;.	.;.;.	0.776477	0.11468	8.070	0.73706220527889632	0.10426	0.06073	0.12045	N	AEFBI	0.087563	0.17755	N	-0.890757916165248	0.11062	0.531821	-0.818503237668552	0.14048	0.7319856	0.00916915692593096	0.11808	0.623552	0.39893	0	0.588015	0.36545	0	0.667671	0.60360	0	0.530356	0.10902	0	.	.	5.55	2.29	0.27658	0.081000	0.14677	-0.250000	0.10515	0.549000	0.26987	0.032000	0.20554	0.000000	0.08366	0.376000	0.26245	0.0:0.5593:0.0:0.4407	7.638	0.27443	649	0.63102	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	532.98	33	chr1	85045302	.	C	T	532.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.530e-01;DP=719;ExcessHet=0.0000;FS=1.075;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.69;ReadPosRankSum=0.179;SOR=0.512	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1089	20	0	1	0
chr1	85158755	85158755	A	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.T3580C:p.F1194L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.0	B	0.0	B	0.089	N	0.999	N	-0.345	N	3.28	T	-0.932	T	0.002	T	0.048	2.206	13.34	2.91	0.308	0.889	1.797	0.020	0.00654077122755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.59e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.23905	T	0.034	0.52727	D	0.0	0.02946	B	0.0	0.01387	B	0.089341	0.20432	N	0.527396	0.998858	0.21853	N	0	0.06538	N	3.28	0.06523	T	1.02	0.01369	N	0.042	0.01498	-0.9316	0.43903	T	0.002	0.00615	T	10	0.023369968	0.00610	T	0.006541	0.17243	T	0.020	0.03691	0.21	0.12781	0.0551355673512	0.04727	0.06610387111215123	0.06549	0.14237696093	0.16047	0.397826164961	0.24766	T	0.004802	0.04217	T	-0.355873	0.04369	T	-0.748963	0.03526	T	0.219421803951263	0.21435	T	0.513449	0.16474	T	0.053474132	0.10124	0.045122	0.05999	0.053474132	0.10124	0.045122	0.05999	-2.743	0.07671	T	.	.	0.392	0.59120	A	.	.	2.506013	0.32358	19.02	0.99124857947199441	0.53089	0.82995	0.42152	D	AEFGBI	0.191288	0.31849	N	-0.773932366158561	0.13992	0.6934386	-0.537640718649593	0.21134	1.141888	0.0731348463355377	0.15624	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	2.91	0.32903	2.498000	0.45023	3.315000	0.37496	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.3343:0.3872:0.1116:0.1669	1.797	0.02879	676	0.60355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	606.1	33	chr1	85158755	.	A	G	606.1	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-2.537e+00;DP=1578;ExcessHet=3.5521;FS=65.892;InbreedingCoeff=-0.2459;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=0.89;ReadPosRankSum=-3.190e-01;SOR=9.887	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:65,13:78:21:.:.:21,0,1706	13	0	8	0
chr1	85158757	85158757	C	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578C:p.S1193T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.132	B	0.031	B	0.000	D	0.857	N	0.695	N	3.03	T	-1.001	T	0.008	T	0.208	2.236	13.43	5.05	1.496	3.035	15.424	0.060	0.00707251258688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.064	0.44905	T	0.132	0.27209	B	0.031	0.21939	B	0.000003	0.62929	D	0.141141	0.856995	0.28413	N	2.89	0.83701	M	3.03	0.08898	T	-1.07	0.27876	N	0.197	0.21710	-1.0013	0.29545	T	0.008	0.02926	T	10	0.10845104	0.20189	T	0.007073	0.18731	T	0.060	0.17295	0.133	0.03747	0.115124310173	0.11017	0.1666088604543345	0.16580	0.261245587848	0.28675	0.516227483749	0.41095	T	0.015102	0.12732	T	-0.18471	0.23038	T	-0.503099	0.22027	T	0.930839061737061	0.59580	D	0.288071	0.05188	T	0.4173487	0.61915	0.2945027	0.55481	0.4173487	0.61916	0.2945027	0.55480	-4.469	0.30481	T	.	.	0.083	0.09094	B	.	.	1.981754	0.25175	16.67	0.98157459387076473	0.38747	0.94396	0.61032	D	AEFGBI	0.405519	0.47837	N	-0.0772867669948402	0.38391	2.247741	0.106188889006462	0.44865	2.760029	0.995644873868107	0.34242	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	5.05	0.67566	3.147000	0.50335	2.710000	0.34229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7371:0.2629:0.0	15.424	0.74759	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4722	3593.29	88	chr1	85158757	.	C	G	3593.29	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-5.110e-01;DP=1833;ExcessHet=25.1139;FS=163.566;InbreedingCoeff=-0.7941;MLEAC=18;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.78;ReadPosRankSum=0.475;SOR=12.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,13:68:29:.:.:29,0,1657	1	0	17	3
chr1	85182478	85182478	G	A	exonic	SYDE2	.	stopgain	SYDE2:NM_032184:exon3:c.C2164T:p.R722X,	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	4.286	22.4	4.72	2.688	2.887	13.780	.	.	.	.	8.4e-05	0	0	0.0001	0	0.0001	0	6.109e-05	6.47e-05	10	154602	rs755971966	4.516e-05	4.515e-05	4.085e-05	4.952e-05	7.56e-05	3.642e-05	3.322e-05	2.004e-05	1.661e-05	0	6.715e-05	0.0009	7.56e-05	0	0	2.698e-05	6.626e-05	3.479e-05	4.604e-05	4.598e-05	3.857e-05	5.387e-05	0.0002	2.111e-05	1.528e-05	.	.	0	0	0	0.0014	0.0002	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.257	0.29081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.371528	0.88158	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.912246	0.98197	39	0.99738309828978866	0.83337	0.90637	0.51979	D	AEFGBI	0.159576	0.28539	N	0.723746943540939	0.81190	7.464279	0.567331834292045	0.72612	5.837344	0.997342232415	0.35520	0.562547	0.31514	0	0.588066	0.40923	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	5.69	4.72	0.59248	2.939000	0.48687	6.489000	0.55755	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.7355:0.2645	13.780	0.62567	723	0.55174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2193.98	33	chr1	85182478	.	G	A	2193.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=1014;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.75;ReadPosRankSum=-9.070e-01;SOR=0.698	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1120	20	0	1	0
chr1	85708091	85708091	C	A	exonic	ZNHIT6	.	nonsynonymous SNV	ZNHIT6:NM_001170670:exon1:c.G194T:p.G65V	.	.	405	1114	3	0	0	3	0.00134469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.365	B	0.188	B	0.300	N	1.000	N	0.345	N	0.74	T	-0.994	T	0.043	T	0.146	1.728	11.74	-0.658	-0.190	-0.075	7.473	0.037	0.0342035215285	0.0022	0.00119808	0.0041	0.0006	0.0004	0	0.0029	0.0062	0.0022	0.0035	0.0039197	606	154602	rs148103860	0.0040	0.0040	0.0041	0.0040	0.0046	0.0039	0.0039	0.0044	0.0044	0.0006	0.0008	0	0	0.0030	0.0005	0.0046	0.0040	0.0042	0.0025	0.0025	0.0026	0.0025	0.0041	0.0023	0.0023	0.0037	0.0036	0.0008	0	0.0020	0	0	0.0019	0	0.0041	0.0019	0.0039	0.029	0.53900	D	0.038	0.51421	D	0.365	0.34004	B	0.188	0.36237	B	0.299637	0.03946	N	1.560000	1	0.08975	N	0.805	0.20218	L	0.57	0.54347	T	-1.49	0.36385	N	0.197	0.21710	-0.9940	0.31565	T	0.043	0.18368	T	10	0.003576219	0.00065	T	0.034204	0.55518	D	0.037	0.09474	.	.	0.228597637076	0.22478	0.15444653069496103	0.15365	0.381936508766	0.39535	0.229956135154	0.01965	T	0.067138	0.33124	T	-0.529251	0.00388	T	-0.531504	0.19137	T	0.00766533065542921	0.00089	T	0.478952	0.32527	T	0.04659715	0.07824	0.066805966	0.13734	0.04659715	0.07824	0.066805966	0.13734	-4.574	0.35168	T	.	.	0.085	0.10400	B	.;.	.;.	1.309881	0.17126	12.98	0.93748568966760959	0.23687	0.05314	0.11164	N	ALL	0.051674	0.09152	N	-0.910586439853762	0.10594	0.5069656	-0.997093068685732	0.09850	0.4925034	0.9999997211388	0.74766	0.627647	0.40530	0	0.52208	0.09955	0	0.672317	0.60874	0	0.56214	0.19341	0	.	.	4.45	-0.658	0.10855	-0.074000	0.11410	-2.056000	0.04279	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.0:0.4146:0.4593:0.1261	7.473	0.26533	745	0.52414	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2232.98	46	chr1	85708091	.	C	A	2232.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.430e-01;DP=1326;ExcessHet=0.0000;FS=0.544;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.20;ReadPosRankSum=-2.990e-01;SOR=0.771	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,102,1530	20	0	1	0
chr1	85730622	85730622	A	G	exonic	COL24A1	.	nonsynonymous SNV	COL24A1:NM_001349955:exon60:c.T2969C:p.I990T	.	.	438	1080	4	0	0	4	0.00184843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.011	B	0.034	B	0.002	N	0.980	N	0.805	L	-0.74	T	-0.989	T	0.114	T	0.13	0.533	6.886	3.3	0.969	1.814	8.855	0.079	.	0.0009	0.00119808	0.0021	0	0.0003	0	0.0162	0.0015	0.0022	0.0022	0.0017788	275	154602	rs189025471	0.0015	0.0015	0.0014	0.0016	0.0023	0.0014	0.0014	0.0021	0.0020	0.0001	0.0002	0	0	0.0162	0.0005	0.0009	0.0014	0.0023	0.0017	0.0017	0.0012	0.0022	0.0019	0.0015	0.0015	0.0011	0.0010	2.405e-05	0	0.0003	0	0	0.0146	0	0.0013	0.0005	0.0019	0.102	0.30235	T	0.045	0.49390	D	0.006	0.13644	B	0.034	0.22546	B	0.001829	0.37892	N	0.000000	0.979951	0.25146	N	1.28	0.32218	L	-0.74	0.73205	T	-2.06	0.47175	N	0.109	0.09490	-0.9892	0.32803	T	0.114	0.40490	T	10	0.005934775	0.00133	T	.	.	.	0.079	0.23065	.	.	0.539251968656	0.53577	0.36120485589810514	0.36034	0.0436724569655	0.04704	0.369047820568	0.20696	T	0.086233	0.37679	T	-0.45802	0.01011	T	-0.433112	0.29582	T	0.0222092066859869	0.00933	T	0.456654	0.13107	T	0.057280067	0.11379	0.0721206	0.15522	0.057280067	0.11378	0.0721206	0.15521	-7.1	0.54760	T	.	.	0.056	0.00505	B	.	.	1.799983	0.22880	15.80	0.8314468362838997	0.14566	0.80909	0.40429	D	AEFBI	0.321263	0.42412	N	-0.408003121458458	0.25188	1.365493	-0.280666387387541	0.28735	1.604495	0.961502386616491	0.28559	0.693126	0.56070	0	0.659464	0.62310	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.58	3.3	0.36912	1.806000	0.38530	1.878000	0.29433	-0.045000	0.17359	0.708000	0.28703	0.929000	0.28499	0.879000	0.42020	0.8469:0.0:0.1531:0.0	8.855	0.34381	677	0.60274	Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1129.98	35	chr1	85730622	.	A	G	1129.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.950e-01;DP=808;ExcessHet=0.0000;FS=0.754;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.41;ReadPosRankSum=0.266;SOR=0.832	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1267	20	0	1	0
chr1	85784291	85784291	G	A	exonic	COL24A1	.	nonsynonymous SNV	COL24A1:NM_001349955:exon49:c.C2035T:p.P679S	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.021	B	0.027	B	0.407	N	0.911	D	0.645	N	-5.05	D	0.140	D	0.763	D	0.134	1.773	11.89	4.45	1.272	2.647	14.000	0.325	0.0519474069836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.761	0.03471	T	0.589	0.08245	T	0.021	0.18474	B	0.008	0.13708	B	0.407392	0.13043	N	0.633514	0.910652	0.36402	D	1.625	0.41611	L	-5.05	0.98611	D	-1.93	0.44852	N	0.47	0.50598	0.140	0.84875	D	0.763	0.91946	D	10	0.15503722	0.29231	T	0.051947	0.64870	D	0.325	0.64725	0.283	0.23961	0.460085558651	0.45632	0.294215204307205	0.29334	0.0764562275565	0.08578	0.317731082439	0.13076	T	0.016144	0.13402	T	0.0358378	0.56496	T	-0.186298	0.55935	T	0.326593238379938	0.26087	T	0.909109	0.67839	D	0.10062337	0.23761	0.13630533	0.32611	0.10062337	0.23761	0.13630533	0.32611	-4.76	0.34121	T	.	.	0.087	0.11124	B	.	.	2.578965	0.33431	19.34	0.84082600453684897	0.15086	0.92792	0.56557	D	AEFI	0.556308	0.56640	D	-0.500993566063277	0.22047	1.174548	-0.288399101535401	0.28480	1.58826	0.730020591430894	0.23033	0.562547	0.31514	0	0.653731	0.59785	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.36	4.45	0.53365	2.730000	0.47007	3.938000	0.40583	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0731:0.0:0.9269:0.0	14.000	0.63944	615	0.66512	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1169.98	39	chr1	85784291	.	G	A	1169.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.361;DP=869;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=0.045;SOR=0.693	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr1	86372461	86372461	T	C	exonic	ODF2L	.	nonsynonymous SNV	ODF2L:NM_001366779:exon8:c.A497G:p.E166G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.998	D	0.94	D	0.017	N	1.000	N	1.79	L	1.87	T	-1.036	T	0.095	T	0.451	3.796	19.27	4.04	2.098	0.593	9.469	0.113	0.0182010522593	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1476338454	2.958e-06	1.3e-05	0	5.97e-06	0.0005	6.9e-07	4.7e-07	8.635e-05	3.591e-05	0	0	0	0	0	0.0005	0	0	2.956e-05	6.574e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.05	0.45393	D	0.016	0.62352	D	0.998	0.73220	D	0.94	0.67560	D	0.017132	0.27801	N	0.379972	0.973844	0.27257	N	2.64	0.77224	M	1.86	0.83970	T	-4.2	0.76094	D	0.171	0.28849	-1.0365	0.18388	T	0.095	0.35765	T	10	0.19439021	0.35247	T	0.018201	0.40183	T	0.129	0.35316	0.25	0.18757	0.738032634337	0.73568	0.2062531485748921	0.20542	0.064537595183	0.07196	0.44394159317	0.31115	T	0.144284	0.48084	T	0.064419	0.60163	T	-0.145243	0.59662	T	0.932592928409576	0.59875	D	0.882412	0.60266	D	0.1503841	0.34238	0.20070241	0.44014	0.1503841	0.34238	0.20070241	0.44013	-5.44	0.41303	T	.	.	0.127	0.29588	B	.;.;.;.;.;.	.;.;.;.;.;.	3.253830	0.44473	21.9	0.9989460062056571	0.96819	0.10193	0.15767	N	AEFBI	0.126103	0.24290	N	-0.00138647876362714	0.41793	2.506187	0.00341250612994611	0.39875	2.370843	0.00180371195351798	0.08901	0.732398	0.92422	0	0.633656	0.55848	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.25	4.04	0.46262	0.281000	0.18568	4.885000	0.45705	0.665000	0.62972	0.000000	0.06391	1.000000	0.68203	0.999000	0.91618	0.1586:0.0:0.0:0.8414	9.469	0.37993	682	0.59757	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	564.98	30	chr1	86372461	.	T	C	564.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.074;DP=435;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.43;ReadPosRankSum=-4.670e-01;SOR=0.812	GT:AD:DP:GQ:PL	0/0:13,0:13:39:0,39,383	20	0	1	0
chr1	86438966	86438966	G	T	exonic	CLCA2	.	nonsynonymous SNV	CLCA2:NM_006536:exon7:c.G1063T:p.D355Y,	.	.	423	1086	12	0	1	13	0.00549451	.	.	2808988	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.707	P	0.297	B	0.241	N	1.000	N	1.89	L	-0.39	T	-0.965	T	0.098	T	0.405	1.724	11.72	-2.97	-0.807	0.152	3.290	0.140	0.0365563410494	0.0041	0.00219649	0.0039	0.0007	0.0011	0	0.0015	0.0052	0.0077	0.0053	0.003758	581	154602	rs55906076	0.0040	0.0040	0.0038	0.0042	0.0067	0.0039	0.0039	0.0063	0.0061	0.0004	0.0017	0.0077	0	0.0016	0.0019	0.0042	0.0039	0.0067	0.0028	0.0028	0.0030	0.0026	0.0048	0.0026	0.0025	0.0037	0.0036	0.0010	0	0.0027	0.0081	0.0006	0.0009	0	0.0041	0.0024	0.0048	0.002	0.72154	D	0.007	0.69154	D	0.707	0.42016	P	0.297	0.40924	B	0.241412	0.15703	N	0.659654	1	0.08975	N	2.38	0.68558	M	-0.39	0.69158	T	-4.51	0.78222	D	0.422	0.46180	-0.9648	0.38250	T	0.098	0.36728	T	10	0.018166423	0.00393	T	0.036556	0.57066	D	0.140	0.37593	.	.	0.369682402691	0.36581	0.46699625617902873	0.46618	0.21499238779	0.24033	0.291769534349	0.09180	T	0.321656	0.69273	T	-0.370775	0.03555	T	-0.302757	0.44433	T	0.0506806068041719	0.05619	T	0.687031	0.29593	T	0.10298611	0.24339	0.15780772	0.36881	0.10298611	0.24339	0.15780772	0.36880	-9.152	0.68670	D	.	.	0.189	0.40698	B	.	.	1.084817	0.14682	11.23	0.97248128504294673	0.33029	0.04210	0.09722	N	AEFBI	0.078339	0.15804	N	-0.81498642951122	0.12927	0.6333836	-0.989298611799586	0.10024	0.5023379	0.0124267958443077	0.12326	0.549168	0.22868	0	0.573888	0.26702	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	5.92	-2.97	0.05195	0.101000	0.15088	-0.126000	0.11669	-0.116000	0.14526	0.000000	0.06391	0.000000	0.08366	0.053000	0.15439	0.3835:0.1146:0.3902:0.1117	3.290	0.06538	732	0.54084	von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2256.98	40	chr1	86438966	.	G	T	2256.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.377;DP=881;ExcessHet=0.0000;FS=3.072;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.01;ReadPosRankSum=-1.355e+00;SOR=0.476	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1140	20	0	1	0
chr1	86443872	86443872	T	C	exonic	CLCA2	.	nonsynonymous SNV	CLCA2:NM_006536:exon10:c.T1574C:p.M525T,	.	.	426	1077	19	0	0	19	0.00874367	.	.	2808989	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.5	T	0.0	B	0.0	B	0.712	N	1.000	N	-0.805	N	1.63	T	-0.956	T	0.009	T	0.052	-0.336	2.407	2.18	0.151	0.520	4.935	0.048	0.00279504262655	0.0025	0.000798722	0.0023	0.0005	0.0020	0	0.0002	0.0036	0	0.0004	0.0022057	341	154602	rs141677634	0.0028	0.0028	0.0028	0.0028	0.0344	0.0027	0.0027	0.0304	0.0289	0.0011	0.0018	0.0198	0	9.36e-05	0.0344	0.0027	0.0036	0.0007	0.0024	0.0024	0.0024	0.0023	0.0028	0.0022	0.0021	0.0025	0.0024	0.0009	0	0.0025	0.0193	0	0.0004	0.0238	0.0028	0.0047	0.0004	0.06	0.37326	T	0.083	0.41405	T	0.0	0.02946	B	0.0	0.01387	B	0.711784	0.06262	N	1.137430	1	0.08975	N	-0.895	0.01383	N	1.63	0.28002	T	-1.71	0.40660	N	0.065	0.03726	-0.9560	0.39916	T	0.009	0.03011	T	10	0.014680237	0.00308	T	0.002795	0.05810	T	0.048	0.13305	.	.	0.0297737177859	0.01360	0.21977182883166022	0.21893	0.073835093282	0.08273	0.238926798105	0.02695	T	0.151326	0.49121	T	-0.691688	0.00041	T	-0.770017	0.02768	T	0.0021961248633299	0.00023	T	0.10409	0.00774	T	0.07954704	0.18177	0.15678556	0.36691	0.07954704	0.18177	0.15678556	0.36690	-1.792	0.02485	T	.	.	0.060	0.00904	B	.	.	-0.018265	0.04159	0.998	0.33741051852509218	0.02026	0.03124	0.08070	N	AEFBI	0.048592	0.08308	N	-1.3147722179655	0.03505	0.1566953	-1.22947741326757	0.05441	0.2592956	0.00841463653783094	0.11672	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.66	2.18	0.26813	0.219000	0.17426	0.270000	0.16646	-0.772000	0.03442	0.002000	0.15269	0.000000	0.08366	0.011000	0.09372	0.1418:0.1892:0.0:0.669	4.935	0.13288	737	0.53483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1481.98	55	chr1	86443872	.	T	C	1481.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.076e+00;DP=973;ExcessHet=0.0000;FS=0.709;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=-2.376e+00;SOR=0.747	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1144	20	0	1	0
chr1	86489017	86489017	A	G	exonic	CLCA1	.	nonsynonymous SNV	CLCA1:NM_001285:exon8:c.A1204G:p.T402A,	.	.	422	1092	8	0	0	8	0.00364964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.955	P	0.714	P	0.002	N	1.000	N	0.925	L	-0.18	T	-0.978	T	0.119	T	0.234	1.198	9.867	5.7	2.158	1.758	7.798	0.175	0.0216330771167	0.0012	0.000798722	0.0015	0.0003	0.0009	0	0	0.0020	0.0022	0.0022	0.0014165	219	154602	rs138472865	0.0013	0.0013	0.0012	0.0015	0.0033	0.0013	0.0013	0.0022	0.0018	0.0002	0.0007	0.0148	0	0.0004	0.0033	0.0010	0.0019	0.0022	0.0010	0.0010	0.0009	0.0010	0.0029	0.0008	0.0008	0.0018	0.0014	9.62e-05	0	0.0003	0.0153	0	9.434e-05	0.0034	0.0010	0.0005	0.0029	0.302	0.14400	T	0.505	0.11004	T	0.955	0.54515	P	0.714	0.54635	P	0.002154	0.37138	N	0.269718	1	0.08975	N	2.28	0.64929	M	-0.18	0.65747	T	-2.26	0.50502	N	0.35	0.39659	-0.9777	0.35526	T	0.119	0.41778	T	10	0.012068808	0.00261	T	0.021633	0.44424	T	0.175	0.44197	.	.	0.633545781819	0.63054	0.5853350931980922	0.58463	0.349758134559	0.36824	0.358265161514	0.19133	T	0.034696	0.23426	T	-0.430367	0.01475	T	-0.396827	0.33754	T	0.0706591572256433	0.08744	T	0.647535	0.25853	T	0.25249124	0.48265	0.15313177	0.35997	0.25249124	0.48265	0.15313177	0.35996	-5.525	0.42101	T	.	.	0.087	0.11269	B	.;.	.;.	3.168620	0.42966	21.6	0.97089024586738559	0.32315	0.40016	0.26342	N	AEFBCI	0.151706	0.27624	N	-0.150724483928656	0.35204	2.019106	-0.205261017013835	0.31346	1.773141	0.15622048438188	0.17521	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.7	5.7	0.88690	3.185000	0.50635	9.288000	0.79769	0.756000	0.94297	0.639000	0.28076	1.000000	0.68203	0.158000	0.20581	0.7222:0.1417:0.0:0.1361	7.798	0.28324	746	0.52331	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1250.98	34	chr1	86489017	.	A	G	1250.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.151;DP=808;ExcessHet=0.0000;FS=6.462;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=-1.041e+00;SOR=0.445	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1289	20	0	1	0
chr1	86563694	86563694	G	A	exonic	CLCA4	.	nonsynonymous SNV	CLCA4:NM_012128:exon4:c.G482A:p.R161Q,	.	.	.	.	.	.	.	.	.	.	.	2267207	Autism|not_specified	Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850|MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.992	D	0.867	P	0.000	D	1.000	D	2.945	M	2.0	T	-0.831	T	0.135	T	0.924	5.814	36	5.77	2.723	5.585	19.587	0.507	0.0460308405877	8.2e-05	.	4.146e-05	0.0001	0	0.0002	0	3.002e-05	0	0	3.23e-05	5	154602	rs377252384	1.998e-05	2.189e-05	1.919e-05	2.077e-05	0.0005	1.402e-05	1.212e-05	0.0001	7.568e-05	6.039e-05	0	0	0.0001	1.879e-05	0.0005	1.084e-05	6.67e-05	2.368e-05	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.009	0.57480	D	0.002	0.79402	D	0.992	0.64738	D	0.867	0.61644	P	0.000476	0.44119	D	0.146267	0.99374	0.81001	D	3.1	0.87590	M	2.0	0.21473	T	-3.73	0.70920	D	0.827	0.82257	-0.8306	0.53263	T	0.135	0.45029	T	10	0.86675215	0.85922	D	0.046031	0.62267	D	0.507	0.78786	.	.	0.593086074022	0.58986	0.8224445855638851	0.82201	0.368114708381	0.38370	0.543470025063	0.44936	T	0.415296	0.76859	T	0.0572713	0.59270	T	0.0811583	0.75657	D	0.849509060382843	0.50123	D	0.886311	0.61284	D	0.327029	0.55226	0.32003042	0.57961	0.327029	0.55226	0.32003042	0.57960	-11.68	0.83258	D	.	.	0.112	0.22061	B	.	.	4.510911	0.70634	25.6	0.9995487974375401	0.99969	0.95610	0.65411	D	AEFBI	0.641111	0.61856	D	0.859539035453097	0.89644	10.05719	0.829014746682173	0.91732	11.03911	0.998441003088668	0.36977	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.77	5.77	0.91077	6.192000	0.71992	5.154000	0.47766	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.900000	0.43643	0.0:0.0:1.0:0.0	19.587	0.95487	813	0.42397	Calcium-activated chloride channel, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1460.98	35	chr1	86563694	.	G	A	1460.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.92;DP=834;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=-1.090e-01;SOR=0.749	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr1	86580219	86580225	ACCTACT	0	exonic	CLCA4	.	.	.	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	14600.39	280	chr1	86580219	.	ACCTACT	*,ACCTACTCCTACT,A	14600.39	.	AC=32,2,1;AF=0.762,0.048,0.024;AN=42;BaseQRankSum=-4.420e-01;DP=6355;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=32,2,1;MLEAF=0.762,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=-7.110e-01;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,303,0,0:303:99:.:.:12715,912,0,12715,912,12715,12715,912,12715,12715	0	12	6	0
chr1	86580225	86580225	-	CCTACT	exonic	CLCA4	.	nonframeshift insertion	CLCA4:NM_012128:exon14:c.2640_2641insCCTACT:p.P887_D888insTP,	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	14600.39	280	chr1	86580219	.	ACCTACT	*,ACCTACTCCTACT,A	14600.39	.	AC=32,2,1;AF=0.762,0.048,0.024;AN=42;BaseQRankSum=-4.420e-01;DP=6355;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=32,2,1;MLEAF=0.762,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=-7.110e-01;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,303,0,0:303:99:.:.:12715,912,0,12715,912,12715,12715,912,12715,12715	0	12	6	0
chr1	89058033	89058033	T	C	exonic	GBP1	.	nonsynonymous SNV	GBP1:NM_002053:exon6:c.A833G:p.K278R,	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.009	B	0.032	B	0.006	N	1.000	N	1.235	L	0.02	T	-1.007	T	0.063	T	0.056	1.890	12.28	0.569	-0.185	0.378	5.939	0.048	0.0247338993938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.362e-06	1.375e-06	1.16e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.994e-07	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.26519	T	0.262	0.22895	T	0.009	0.15093	B	0.032	0.22131	B	0.005948	0.32383	N	0.326005	1	0.08975	N	1.36	0.34107	L	0.02	0.62318	T	-1.92	0.44657	N	0.149	0.15187	-1.0066	0.27973	T	0.063	0.26279	T	10	0.10939723	0.20406	T	0.024734	0.47726	T	0.048	0.13305	0.5	0.59147	0.55646128548	0.55305	0.08084902724029047	0.08019	0.0702128094216	0.07864	0.329323649406	0.14831	T	0.21395	0.57540	T	-0.251867	0.13871	T	-0.599566	0.12848	T	0.12971295603827	0.15355	T	0.126587	0.00987	T	0.11423041	0.26970	0.10810957	0.26037	0.11423041	0.26969	0.10810957	0.26037	-6.172	0.47696	T	.	.	0.072	0.04238	B	.	.	1.140808	0.15283	11.73	0.97636502814722048	0.35051	0.03951	0.09352	N	AEFBI	0.063240	0.12210	N	-0.971011871634508	0.09226	0.4358135	-1.01607473714154	0.09431	0.4691991	0.0556834617070146	0.15027	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.635551	0.53088	0	.	.	4.48	0.569	0.16525	0.141000	0.15897	-0.203000	0.10926	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.290000	0.24260	0.0:0.0896:0.3148:0.5955	5.939	0.18421	751	0.51694	Guanylate-binding protein, N-terminal|GB1/RHD3-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1746.98	33	chr1	89058033	.	T	C	1746.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.900e-01;DP=829;ExcessHet=0.0000;FS=1.364;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=0.638;SOR=0.567	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1473	20	0	1	0
chr1	89109833	89109833	C	G	exonic	GBP2	.	nonsynonymous SNV	GBP2:NM_004120:exon10:c.G1503C:p.K501N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.0	B	0.004	B	0.215	N	1.000	N	-0.485	N	4.46	T	-0.965	T	0.001	T	0.024	-1.290	0.040	-7.91	-4.658	-3.381	3.332	0.017	0.00236787689433	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.362e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.09374	T	0.552	0.09361	T	0.0	0.02946	B	0.004	0.10090	B	0.215470	0.03417	N	1.942830	1	0.08975	N	-0.32	0.03561	N	4.46	0.02102	T	-0.22	0.10480	N	0.054	0.02559	-0.9652	0.38171	T	0.001	0.00255	T	10	0.037824392	0.02161	T	0.002368	0.04618	T	0.017	0.02790	0.469	0.54214	0.0611884634855	0.05136	0.0950340740837036	0.09435	0.114875971495	0.12958	0.345634251833	0.17277	T	0.055117	0.29915	T	-0.44792	0.01161	T	-0.881182	0.00644	T	0.016833633184433	0.00437	T	0.178482	0.01759	T	0.03052987	0.02731	0.026101563	0.00682	0.03052987	0.02731	0.026101563	0.00682	-4.209	0.26882	T	.	.	0.121	0.25100	B	.	.	-0.716343	0.01283	0.068	0.22573141279801839	0.00914	0.00388	0.01954	N	AEFBI	0.038016	0.05318	N	-2.14195785033437	0.00103	0.00442532	-2.23976680734244	0.00091	0.004002466	0.999998081646851	0.74766	0.706548	0.73137	0	0.659464	0.62310	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.96	-7.91	0.01031	-3.024000	0.00704	-20.000000	0.00162	-1.805000	0.00619	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2391:0.321:0.3407:0.0993	3.332	0.06673	732	0.54084	Guanylate-binding protein/Atlastin, C-terminal|Guanylate-binding protein, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1671.98	34	chr1	89109833	.	C	G	1671.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.034e+00;DP=843;ExcessHet=0.0000;FS=0.629;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=0.925;SOR=0.787	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1143	20	0	1	0
chr1	89191383	89191383	T	C	exonic	GBP4	.	nonsynonymous SNV	GBP4:NM_052941:exon6:c.A794G:p.D265G,	.	.	426	1081	15	0	0	15	0.00689022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.02	B	0.022	B	0.291	N	1.000	N	2.02	M	-1.12	T	-0.689	T	0.234	T	0.134	2.266	13.53	4.14	1.103	4.023	9.980	0.283	0.0432146992987	0.0003	0.000399361	0.0006	0.0002	8.637e-05	0	0	0.0005	0	0.0021	0.0004981	77	154602	rs201411513	0.0002	0.0002	0.0002	0.0003	0.0025	0.0002	0.0002	0.0023	0.0021	2.987e-05	0	0.0023	0	0	0.0007	4.406e-05	0.0003	0.0025	0.0001	0.0001	6.424e-05	0.0002	0.0029	9.736e-05	8.252e-05	0.0018	0.0014	0	0	0	0.0023	0	0	0	0	0	0.0029	0.011	0.55530	D	0.001	0.83351	D	0.02	0.18235	B	0.022	0.19653	B	0.291093	0.14767	N	0.663946	1	0.08975	N	2.205	0.62170	M	-1.12	0.77593	T	-3.51	0.68298	D	0.401	0.44187	-0.6891	0.60950	T	0.234	0.60099	T	10	0.017451495	0.00373	T	0.043215	0.60869	D	0.283	0.60100	.	.	0.814452550499	0.81271	0.5009065058856161	0.50012	0.162938723387	0.18388	0.349341213703	0.17825	T	0.34834	0.71634	T	-0.403078	0.02210	T	-0.357318	0.38363	T	0.0709536894361799	0.08784	T	0.336266	0.07184	T	0.23761347	0.46627	0.20071071	0.44015	0.23761347	0.46627	0.20071071	0.44014	-4.947	0.36259	T	.	.	0.075	0.05711	B	.	.	3.002746	0.40130	21.1	0.97972601104124046	0.37261	0.84173	0.43256	D	AEFHCI	0.376549	0.46065	N	-0.348469870573523	0.27328	1.498502	-0.337186150245	0.26909	1.489528	0.924106724571239	0.26767	0.615465	0.37627	0	0.633656	0.55848	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.28	4.14	0.47821	5.781000	0.68615	2.886000	0.35360	0.650000	0.52971	0.994000	0.38300	0.268000	0.24029	0.001000	0.02609	0.1517:0.0:0.0:0.8483	9.980	0.40980	480	0.77422	Guanylate-binding protein, N-terminal|GB1/RHD3-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2075.98	35	chr1	89191383	.	T	C	2075.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.474;DP=919;ExcessHet=0.0000;FS=1.060;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.61;ReadPosRankSum=-3.200e-02;SOR=0.789	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1420	20	0	1	0
chr1	89582690	89582690	C	T	exonic	LRRC8B	.	stopgain	LRRC8B:NM_001369817:exon5:c.C40T:p.Q14X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	6.167	37	5.39	2.672	6.035	19.51	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	0	1.375e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000001	0.62929	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.495	0.59138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.622132	0.98769	D	0.655873	0.98747	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Recessive;Recessive;Recessive	.;.;.;High;High;High	8.042664	0.97118	37	0.9982691632553391	0.90939	0.98193	0.80412	D	AEFDBI	0.119583	0.23333	N	1.1369466439072	0.98762	19.29158	0.985077651528027	0.98318	17.95582	0.9999999999999	0.74766	0.632932	0.41330	0	0.653731	0.59785	0	0.601832	0.32385	0	0.635551	0.53088	0	.	.	5.39	5.39	0.77615	6.085000	0.70992	5.978000	0.52118	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	19.51	0.95129	804	0.43891	LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	117.98	36	chr1	89582690	.	C	T	117.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.004e+00;DP=1066;ExcessHet=0.0000;FS=28.679;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.17;ReadPosRankSum=3.52;SOR=4.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:64,0:64:99:.:.:0,120,1800	20	0	1	0
chr1	89582691	89582691	A	G	exonic	LRRC8B	.	nonsynonymous SNV	LRRC8B:NM_001369817:exon5:c.A41G:p.Q14R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.991	D	0.982	D	0.000	D	1.000	D	1.965	M	0.92	T	-0.738	T	0.185	T	0.775	4.893	28.1	5.39	2.159	9.273	15.698	0.347	0.026732837426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.016	0.76473	D	0.991	0.64070	D	0.982	0.75477	D	0.000001	0.62929	D	0.000000	0.999987	0.54805	D	2.305	0.65957	M	0.92	0.44461	T	-3.47	0.67824	D	0.7	0.86404	-0.7379	0.58560	T	0.185	0.53361	T	10	0.75890064	0.76194	D	0.026733	0.49612	D	0.347	0.66863	0.606	0.73825	0.382607109125	0.37878	0.8199748331590976	0.81954	0.69715142685	0.60882	0.706025004387	0.68017	T	0.07855	0.35917	T	0.102253	0.64536	D	-0.0908965	0.64094	T	0.985106945037842	0.76198	D	0.860814	0.55431	D	0.4747601	0.65582	0.50558585	0.71424	0.4747601	0.65582	0.50558585	0.71424	-5.152	0.38450	T	.	.	0.212	0.50054	B	.;.;.;.;.;.	.;.;.;.;.;.	4.445928	0.69071	25.3	0.99849235027173289	0.92838	0.99139	0.91801	D	AEFDBI	0.885036	0.81521	D	0.794938084968752	0.85789	8.681816	0.778358753137728	0.88251	9.512703	0.999999999571855	0.74766	0.632932	0.41330	0	0.653731	0.59785	0	0.601832	0.32385	0	0.635551	0.53088	0	.	.	5.39	5.39	0.77615	7.240000	0.77644	11.230000	0.90066	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	1.0:0.0:0.0:0.0	15.698	0.77274	804	0.43891	LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	117.98	36	chr1	89582691	.	A	G	117.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.141e+00;DP=1021;ExcessHet=0.0000;FS=28.679;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.17;ReadPosRankSum=3.43;SOR=4.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:64,0:64:99:.:.:0,120,1800	20	0	1	0
chr1	89584163	89584163	T	G	exonic	LRRC8B	.	nonsynonymous SNV	LRRC8B:NM_001369817:exon5:c.T1513G:p.W505G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998	D	0.986	D	0.000	D	1.000	D	0.065	N	0.37	T	-0.892	T	0.123	T	0.863	3.355	17.30	5.63	2.265	7.985	16.141	0.510	0.0581675654476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.009	0.66756	D	0.998	0.73220	D	0.986	0.76916	D	0.000001	0.62929	D	0.000000	1	0.81001	D	2.24	0.63355	M	0.37	0.57729	T	-6.71	0.92518	D	0.79	0.78641	-0.8921	0.48749	T	0.123	0.42610	T	9	0.8527222	0.84457	D	0.058168	0.67222	D	0.510	0.78971	0.583	0.70990	0.358880540497	0.35496	0.5763240030259921	0.57561	1.92089905827	0.93006	0.780929684639	0.79068	T	0.694389	0.91143	D	0.271172	0.80544	D	0.151743	0.80292	D	0.985967874526978	0.76808	D	0.867413	0.56831	D	0.85845417	0.87968	0.8378159	0.90694	0.85845417	0.87970	0.8378159	0.90695	-11.111	0.80263	D	.	.	0.976	0.90465	P	.;.;.;.	.;.;.;.	4.857650	0.79462	27.1	0.97758393078232431	0.35788	0.99346	0.94813	D	AEFBI	0.851830	0.76871	D	0.542385656146889	0.69618	5.382871	0.616364778845751	0.76126	6.434246	0.999999999845109	0.74766	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.63	5.63	0.86108	7.928000	0.87040	7.898000	0.73400	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.141	0.81334	804	0.43891	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1159.98	37	chr1	89584163	.	T	G	1159.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.176e+00;DP=867;ExcessHet=0.0000;FS=0.783;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=1.43;SOR=0.823	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr1	89933367	89933367	T	A	exonic	LRRC8D	.	nonsynonymous SNV	LRRC8D:NM_001134479:exon3:c.T299A:p.F100Y	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	B	0.009	B	0.019	N	0.827	D	0.345	N	1.49	T	-1.066	T	0.032	T	0.414	0.374	6.028	6.07	2.326	2.684	15.212	0.073	0.00544093214312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.54683	T	1.0	0.32144	T	0.056	0.22806	B	0.009	0.14300	B	0.019143	0.27321	N	0.379224	0.827112	0.34862	D	0	0.06538	N	1.49	0.44856	T	0.24	0.04776	N	0.415	0.45520	-1.0663	0.10246	T	0.032	0.13854	T	9	0.13753137	0.26162	T	0.005441	0.13984	T	0.073	0.21317	0.164	0.06842	0.309278343525	0.30543	0.07384258655501405	0.07321	0.681429801449	0.60047	0.476101398468	0.35520	T	0.015964	0.13288	T	-0.109216	0.34897	T	-0.394657	0.34006	T	0.91344940662384	0.56971	D	0.539346	0.20864	T	0.10433832	0.24665	0.053733535	0.09108	0.10433832	0.24665	0.053733535	0.09107	-3.729	0.19747	T	.	.	0.095	0.27222	B	.;.;.;.;.;.	.;.;.;.;.;.	2.772286	0.36392	20.2	0.7979913398890679	0.12906	0.99011	0.89930	D	AEFBI	0.637145	0.61603	D	-0.17504765921172	0.34176	1.947551	0.0424731391114141	0.41708	2.510399	0.999999989899118	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	2.270000	0.43014	4.214000	0.42550	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.0:0.0:1.0	15.212	0.72919	815	0.41851	LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region;.;.;LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	8267.08	40	chr1	89933367	.	T	A	8267.08	.	AC=2;AF=0.048;AN=42;DP=976;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.67;SOR=0.716	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1389	20	1	0	0
chr1	90017368	90017368	T	G	exonic	ZNF326	.	nonsynonymous SNV	ZNF326:NM_181781:exon6:c.T360G:p.D120E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.026	B	0.027	B	0.000	D	1.000	N	-0.46	N	1.07	T	-0.959	T	0.010	T	0.256	0.019	4.114	0.171	0.386	0.255	4.962	0.074	0.00321357897636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.02795	T	0.026	0.19406	B	0.027	0.21085	B	0.000244	0.46924	D	0.180429	0.672312	0.31525	N	-0.245	0.03879	N	1.07	0.39586	T	1.53	0.00747	N	0.272	0.34228	-0.9591	0.39349	T	0.010	0.03811	T	10	0.045364827	0.03599	T	0.003214	0.07057	T	0.074	0.21613	0.477	0.55502	0.151262610727	0.14761	0.23807760985959797	0.23721	0.417156267166	0.42343	0.600036740303	0.52910	T	0.024111	0.18278	T	-0.183127	0.23273	T	-0.500826	0.22262	T	0.433837443590164	0.30202	T	0.792821	0.43457	T	0.027692176	0.01998	0.035208154	0.02730	0.027692176	0.01998	0.035208154	0.02729	-2.616	0.06625	T	.	.	0.219	0.44910	B	.;.	.;.	1.835488	0.23322	15.97	0.67310532221741504	0.08317	0.73573	0.35988	D	AEBI	0.118130	0.23113	N	-0.752437775536872	0.14566	0.7267258	-0.544034569177615	0.20964	1.131899	0.102893002400108	0.16430	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.48	0.171	0.14312	0.260000	0.18192	1.573000	0.27428	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	1.000000	0.97212	0.1756:0.3256:0.0:0.4988	4.962	0.13419	673	0.60677	Zinc finger C2H2 AKAP95-type;Zinc finger C2H2 AKAP95-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	769.98	39	chr1	90017368	.	T	G	769.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.043;DP=763;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=-1.912e+00;SOR=0.614	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1001	20	0	1	0
chr1	91976319	91976319	G	A	exonic	BRDT	.	nonsynonymous SNV	BRDT:NM_001242807:exon4:c.G361A:p.A121T	.	.	432	1084	6	0	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.017	B	0.005	B	0.592	N	1.000	N	1.78	L	3.3	T	-0.965	T	0.016	T	0.115	1.256	10.09	2.01	0.598	0.400	4.195	0.024	0.00315846437966	0.0022	0.00299521	0.0024	0.0004	0.0003	0	0.0005	0.0028	0	0.0060	0.0024515	379	154602	rs112246679	0.0032	0.0032	0.0030	0.0034	0.0080	0.0031	0.0031	0.0062	0.0055	0.0009	0.0014	0.0012	5.057e-05	0.0002	0.0080	0.0033	0.0035	0.0061	0.0022	0.0022	0.0022	0.0022	0.0048	0.0020	0.0019	0.0035	0.0032	0.0005	0	0.0044	0.0009	0	9.445e-05	0.0102	0.0031	0.0024	0.0048	0.375	0.18308	T	0.581	0.10465	T	0.002	0.09854	B	0.002	0.06944	B	0.592195	0.05598	N	1.208290	1	0.08975	N	1.855	0.49169	L	3.22	0.19990	T	-0.59	0.18042	N	0.053	0.15187	-0.9652	0.38171	T	0.016	0.06569	T	10	0.0050364137	0.00108	T	0.003158	0.06906	T	0.024	0.04979	.	.	0.370789594751	0.36692	0.19710477496022719	0.19627	0.077418992824	0.08706	0.318214178085	0.13150	T	0.045437	0.27124	T	-0.642003	0.00081	T	-0.692079	0.06270	T	0.00285348042457545	0.00030	T	0.425557	0.18512	T	0.025702259	0.01537	0.038341336	0.03681	0.022582712	0.00931	0.04595521	0.06299	-3.169	0.12763	T	.	.	0.066	0.02548	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.479872	0.08493	5.254	0.79256083948807377	0.12660	0.03724	0.09016	N	AEFBI	0.067427	0.13255	N	-0.895336650903614	0.10953	0.5260278	-0.928036661307353	0.11433	0.5824682	0.0274020758775891	0.13771	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.99	2.01	0.25568	0.418000	0.20950	1.317000	0.25577	-0.161000	0.11593	0.000000	0.06391	0.028000	0.21151	0.014000	0.10232	0.1934:0.0:0.6227:0.1838	4.195	0.09899	623	0.65786	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1277.98	33	chr1	91976319	.	G	A	1277.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=838;ExcessHet=0.0000;FS=0.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.40;ReadPosRankSum=-7.900e-02;SOR=0.611	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1341	20	0	1	0
chr1	91992306	91992306	G	A	exonic	BRDT	.	nonsynonymous SNV	BRDT:NM_001242807:exon13:c.G1969A:p.V657I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.002	B	0.001	B	0.003	N	1.000	N	-0.11	N	3.32	T	-0.938	T	0.003	T	0.044	-2.638	0	-1.06	-0.852	-0.682	2.753	0.013	0.00129701655789	.	.	2.616e-05	0	8.946e-05	0.0001	0	1.602e-05	0	0	2.59e-05	4	154602	rs768666658	3.67e-05	5.341e-05	4.379e-05	2.953e-05	4.158e-05	2.823e-05	2.548e-05	3.152e-05	2.807e-05	3.456e-05	3.254e-05	0	0	0	0	4.158e-05	7.088e-05	0	4.628e-05	4.604e-05	7.749e-05	1.355e-05	7.361e-05	2.121e-05	1.534e-05	2.85e-05	1.861e-05	2.427e-05	0	0	0	0	0	0	7.361e-05	0.0005	0	0.88	0.02544	T	0.714	0.05622	T	0.0	0.02946	B	0.0	0.01387	B	0.003095	0.00938	N	4.117290	1	0.08975	N	0	0.06538	N	3.27	0.06602	T	-0.09	0.08340	N	0.026	0.01135	-0.9381	0.42916	T	0.003	0.01026	T	10	0.035241544	0.01764	T	0.001297	0.01809	T	0.013	0.01715	0.091	0.01065	0.255777322467	0.25185	0.062203542334211825	0.06160	0.0652916421919	0.07291	0.384058952332	0.22830	T	0.03297	0.22716	T	-0.457967	0.01012	T	-0.895615	0.00534	T	0.0185649205852812	0.00571	T	0.320168	0.06459	T	0.01796324	0.00319	0.019609887	0.00096	0.01796324	0.00319	0.019609887	0.00096	-3.511	0.16826	T	.	.	0.066	0.02670	B	.;.;.;.;.	.;.;.;.;.	-0.641100	0.01463	0.090	0.1621555036859568	0.00426	0.00227	0.01275	N	AEFBI	0.012607	0.00142	N	-2.06725527979849	0.00151	0.00646745	-2.09415292714477	0.00192	0.008443901	2.86255458146311E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.63	-1.06	0.09491	-0.697000	0.05199	-1.212000	0.06011	-4.563000	0.00026	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.4078:0.0:0.2724:0.3198	2.753	0.04962	601	0.67921	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	809.98	86	chr1	91992306	.	G	A	809.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.250e-01;DP=1287;ExcessHet=0.0000;FS=1.755;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.53;ReadPosRankSum=-1.156e+00;SOR=0.521	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:53,0:53:99:.:.:0,103,1374	20	0	1	0
chr1	92074652	92074654	CAT	-	exonic	SETSIP	.	nonframeshift deletion	SETSIP:NM_001287737:exon1:c.788_790del:p.D263del,	.	.	429	1076	17	0	0	17	0.00783771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025742	67	26028	rs527879752	0.0014	0.0052	0.0013	0.0015	0.0084	0.0014	0.0013	0.0076	0.0073	0.0043	0.0021	0.0083	0.0084	0.0010	0.0070	0.0007	0.0022	0.0030	0.0016	0.0017	0.0017	0.0016	0.0039	0.0015	0.0014	0.0026	0.0021	0.0026	0	0.0012	0.0078	0.0039	0	0	0.0008	0.0029	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1452.94	47	chr1	92074651	.	CCAT	C	1452.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.005e+00;DP=840;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.06;ReadPosRankSum=0.084;SOR=0.712	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1119	20	0	1	0
chr1	92074654	92074654	T	C	exonic	SETSIP	.	nonsynonymous SNV	SETSIP:NM_001287737:exon1:c.A788G:p.D263G,	.	.	438	1056	11	0	17	28	0.00518135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00658946	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs115437630	0.0090	0.0088	0.0088	0.0092	0.0177	0.0089	0.0088	0.0143	0.0131	0.0026	0.0095	0.0173	5.402e-05	0.0012	0.0177	0.0097	0.0097	0.0080	0.0063	0.0064	0.0060	0.0067	0.0155	0.0060	0.0059	0.0138	0.0132	0.0015	0	0.0155	0.0167	0	0.0003	0.0272	0.0077	0.0154	0.0088	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.05670	.	.	.	.	.	.	.	0.004269868	0.00086	T	.	.	.	.	.	.	.	0.104622674875	0.10061	0.015321900822497066	0.01488	.	.	.	.	.	0.023791	0.18095	T	-0.6197	0.00110	T	-0.652544	0.08776	T	.	.	.	0.256074	0.03980	T	0.12479316	0.29272	0.31616184	0.57598	0.12479316	0.29272	0.31616184	0.57597	-5.569	0.42508	T	.	.	0.092	0.14888	B	.;.	.;.	1.565202	0.20044	14.56	0.50367695279588387	0.04372	0.21124	0.21290	N	AEFI	.	.	.	.	.	.	.	.	.	1.64582801883009E-6	0.01202	0.053691	0.00478	0	0.060609	0.00678	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0889061	0.20082	.	.	.	0.114000	0.15353	0.115000	0.14837	0.131000	0.17656	0.985000	0.35982	0.070000	0.22201	0.115000	0.18958	.	.	.	853	0.34956	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1147.06	47	chr1	92074654	.	T	C,*	1147.06	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-2.040e-01;DP=922;ExcessHet=0.1072;FS=4.578;InbreedingCoeff=-0.0501;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=6.67;ReadPosRankSum=0.284;SOR=0.664	GT:AD:DP:GQ:PL	0/0:40,0,0:40:99:0,99,1119,99,1119,1119	19	0	1	0
chr1	92074654	92074654	T	0	exonic	SETSIP	.	.	.	.	.	438	1056	11	0	17	28	0.00518135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1147.06	47	chr1	92074654	.	T	C,*	1147.06	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-2.040e-01;DP=922;ExcessHet=0.1072;FS=4.578;InbreedingCoeff=-0.0501;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=6.67;ReadPosRankSum=0.284;SOR=0.664	GT:AD:DP:GQ:PL	0/0:40,0,0:40:99:0,99,1119,99,1119,1119	19	0	1	0
chr1	92177315	92177315	C	G	exonic	BTBD8	.	nonsynonymous SNV	BTBD8:NM_015237:exon3:c.C583G:p.P195A	.	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.875	P	0.415	B	0.000	D	0.974	D	1.845	L	3.31	T	-0.959	T	0.015	T	0.42	2.231	13.42	5.84	2.779	2.099	15.600	0.099	0.0121243115133	.	.	0.0002	0	0	0	0	0	0	0.0005	2.59e-05	4	154602	rs760964007	4.573e-05	4.378e-05	3.242e-05	5.94e-05	0.0004	3.665e-05	3.335e-05	0.0002	0.0002	0	0.0002	0	0	0.0002	0.0004	1.39e-05	8.607e-05	0.0003	4.6e-05	4.597e-05	2.57e-05	6.727e-05	0.0003	2.11e-05	1.527e-05	8.884e-05	5.391e-05	0	0	0.0003	0	0	0	0	2.94e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.000047	0.53742	D	0.123692	0.973776	0.39051	D	.	.	.	.	.	.	.	.	.	.	.	-0.9593	0.39311	T	0.015	0.05801	T	10	0.104117215	0.19177	T	0.012124	0.30406	T	0.099	0.28413	0.357	0.35897	0.178374595973	0.17440	0.19336578762205991	0.19254	.	.	0.372476458549	0.21187	T	0.044282	0.26768	T	-0.35781	0.04255	T	-0.433673	0.29519	T	0.141355069319058	0.16391	T	0.777022	0.46793	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.;.;.;.	.;.;.;.	3.593611	0.50721	23.0	0.98661791092470619	0.44345	0.93334	0.57939	D	AEFI	0.273920	0.38922	N	0.352888124462399	0.58891	4.064369	0.396226029125661	0.61332	4.331817	0.0968134834808597	0.16263	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.84	5.84	0.93373	1.599000	0.36361	3.321000	0.37545	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.805000	0.37950	0.0:0.8631:0.1369:0.0	15.600	0.76362	734	0.53889	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1330.98	34	chr1	92177315	.	C	G	1330.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.299e+00;DP=826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=-3.000e-02;SOR=0.652	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1088	20	0	1	0
chr1	92180595	92180595	A	G	exonic	BTBD8	.	nonsynonymous SNV	BTBD8:NM_015237:exon6:c.A1373G:p.H458R	.	.	430	1071	21	0	0	21	0.00970874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.001	B	0.533	N	1.000	N	1.245	L	3.57	T	-0.907	T	0.003	T	0.014	-2.362	0.004	-9.21	-1.962	-0.714	8.760	0.033	0.00760635437972	0.0002	0.00159744	0.0027	0	0	0	0	0.0013	0.0042	0.0058	0.0004851	75	154602	rs61741973	0.0007	0.0007	0.0005	0.0009	0.0165	0.0007	0.0007	0.0138	0.0128	6.333e-05	0.0004	0.0022	0	0	0.0165	0.0002	0.0010	0.0073	0.0005	0.0005	0.0004	0.0006	0.0081	0.0004	0.0003	0.0061	0.0054	7.218e-05	0	6.536e-05	0.0020	0.0002	0	0	0.0003	0.0009	0.0081	.	.	.	.	.	.	.	.	.	.	.	.	0.532872	0.11619	N	0.790971	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9069	0.47227	T	0.003	0.00929	T	10	0.0044327974	0.00091	T	0.007606	0.20192	T	0.033	0.08068	.	.	0.0138822411134	0.00435	0.10000362729047764	0.09931	.	.	0.238763928413	0.02680	T	0.008553	0.07843	T	-0.776713	0.00012	T	-0.884885	0.00615	T	0.0113037481900436	0.00167	T	0.355164	0.11736	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.02458	B	.;.;.;.	.;.;.;.	-1.484470	0.00304	0.005	0.18901051738063332	0.00615	0.02180	0.06383	N	AEFGBI	0.034787	0.04369	N	-1.69319894233088	0.00866	0.03747364	-1.80467435958165	0.00744	0.03317401	0.738082412563993	0.23165	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.49	-9.21	0.00578	-0.750000	0.04913	-3.608000	0.02661	-0.549000	0.04906	0.000000	0.06391	0.000000	0.08366	0.165000	0.20815	0.2759:0.0:0.5178:0.2063	8.760	0.33829	730	0.54327	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3195.11	73	chr1	92180595	.	A	G	3195.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.246e+00;DP=1501;ExcessHet=0.1072;FS=0.931;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=2.12;SOR=0.613	GT:AD:DP:GQ:PL	0/0:63,0:63:99:0,120,1800	19	0	2	0
chr1	92182202	92182202	G	A	exonic	BTBD8	.	nonsynonymous SNV	BTBD8:NM_015237:exon6:c.G2980A:p.V994I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.004	B	0.623	N	1.000	N	0.69	N	3.53	T	-0.936	T	0.003	T	0.047	-2.290	0.004	-3.19	-0.383	-1.309	7.111	0.019	0.00461175201833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.29158	T	.	.	.	.	.	.	.	.	.	0.623468	0.05769	N	1.218160	1	0.08975	N	.	.	.	3.48	0.05130	T	-0.45	0.14782	N	.	.	-0.9365	0.43164	T	0.003	0.00929	T	10	0.05252865	0.05301	T	0.004612	0.11409	T	0.019	0.03383	0.15	0.05339	0.0297737177859	0.01360	0.027946565521907194	0.02744	.	.	0.228188961744	0.01836	T	0.005676	0.05129	T	-0.410072	0.01985	T	-0.826816	0.01320	T	0.023674057499185	0.01104	T	0.450155	0.12692	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.06024	B	.;.;.;.	.;.;.;.	-0.235908	0.02913	0.422	0.17073573024879743	0.00483	0.02415	0.06829	N	AEFDBI	0.036742	0.04945	N	-1.30544302636868	0.03612	0.1616704	-1.33037597606743	0.04043	0.1898659	0.470889726976486	0.20706	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.66	-3.19	0.04853	-1.273000	0.02931	-0.183000	0.11113	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.100000	0.18284	0.4957:0.0:0.3642:0.1401	7.111	0.24566	734	0.53889	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1907.98	41	chr1	92182202	.	G	A	1907.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.149e+00;DP=1036;ExcessHet=0.0000;FS=1.233;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.08;ReadPosRankSum=-3.310e-01;SOR=0.801	GT:AD:DP:GQ:PL	0/0:92,0:92:99:0,120,1800	20	0	1	0
chr1	92247981	92247981	T	A	exonic	GLMN	.	nonsynonymous SNV	GLMN:NM_001319683:exon16:c.A1440T:p.L480F	Glomuvenous malformations, Autosomal dominant	.	157	1362	3	0	0	3	0.00110011	.	.	864824	Glomuvenous_malformation	MONDO:MONDO:0007672,MedGen:C1841984,OMIM:138000,Orphanet:83454	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.04	D	0.627	P	0.425	B	0.001	N	0.889	D	1.61	L	0.8	T	-1.075	T	0.061	T	0.415	3.776	19.17	1.26	-0.033	-0.049	3.842	0.053	0.00949627575811	0.0002	0.000199681	0.0003	0	0	0	0	0.0002	0	0.0013	0.0002264	35	154602	rs150536401	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	0.0001	0.0008	0.0007	0	0	0	0	3.908e-05	0.0008	0.0001	0.0002	0.0010	7.222e-05	7.217e-05	6.424e-05	8.055e-05	0.0006	3.968e-05	3.125e-05	0.0002	8.985e-05	0	0	6.54e-05	0	0	9.409e-05	0	8.82e-05	0	0.0006	0.033	0.44358	D	0.029	0.54541	D	0.627	0.40110	P	0.425	0.45259	B	0.001407	0.39109	N	0.251167	0.889264	0.35916	D	2.015	0.55033	M	0.8	0.48769	T	-0.99	0.26200	N	0.341	0.38232	-1.0751	0.08328	T	0.061	0.25599	T	10	0.05642146	0.06321	T	0.009496	0.24878	T	0.053	0.14996	0.415	0.45380	0.631849437455	0.62883	0.5118664728549638	0.51108	0.169519359569	0.19104	0.559084832668	0.47139	T	0.006319	0.10560	T	-0.385304	0.02883	T	-0.371791	0.36680	T	0.130949617230841	0.15470	T	0.761624	0.42389	T	0.11886572	0.27999	0.05891047	0.10967	0.11886572	0.27999	0.05891047	0.10966	-5.414	0.41054	T	0.2279181311921663	0.30819	0.131	0.29088	B	.;.	.;.	2.568324	0.33279	19.29	0.99840038572329759	0.92057	0.71282	0.34946	D	AEFBI	0.129855	0.24818	N	-0.165870559292271	0.34561	1.974228	-0.097800450025208	0.35481	2.053267	0.00188339298011591	0.08975	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	6.17	1.26	0.20534	0.073000	0.14504	1.131000	0.24326	0.661000	0.55757	0.994000	0.38300	1.000000	0.68203	0.997000	0.79791	0.2601:0.3204:0.0:0.4195	3.842	0.08427	667	0.61242	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1116.98	33	chr1	92247981	.	T	A	1116.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.42;DP=768;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=-5.760e-01;SOR=0.659	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1297	20	0	1	0
chr1	92291432	92291432	C	T	exonic	GLMN	.	nonsynonymous SNV	GLMN:NM_001319683:exon4:c.G271A:p.D91N	Glomuvenous malformations, Autosomal dominant	.	2	1456	62	2	0	66	0.0221625	.	.	281879	not_specified|Glomuvenous_malformation|not_provided|GLMN-related_disorder	MedGen:CN169374|MONDO:MONDO:0007672,MedGen:C1841984,OMIM:138000,Orphanet:83454|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.67	T	0.936	P	0.74	P	0.004	N	0.995	D	1.445	L	0.99	T	-1.046	T	0.071	T	0.107	2.182	13.25	4.93	1.420	1.408	9.76	0.107	.	0.0014	0.00399361	0.0043	0.0007	0.0023	0	0.0006	0.0026	0.01	0.0185	0.0037645	582	154602	rs144577963	0.0024	0.0025	0.0018	0.0031	0.0196	0.0024	0.0023	0.0188	0.0185	0.0008	0.0016	0.0115	5.062e-05	0.0003	0.0167	0.0010	0.0041	0.0196	0.0017	0.0017	0.0016	0.0018	0.0180	0.0015	0.0015	0.0150	0.0138	0.0007	0	0.0016	0.0112	0	9.439e-05	0.0136	0.0010	0.0033	0.0180	0.59	0.05808	T	0.626	0.07292	T	0.92	0.51019	P	0.652	0.52532	P	0.004104	0.34102	N	0.361905	0.995118	0.42550	D	1.27	0.32069	L	0.99	0.41750	T	0.1	0.05810	N	0.206	0.22870	-1.0460	0.15534	T	0.071	0.28969	T	10	0.007840723	0.00178	T	.	.	.	0.107	0.30369	.	.	0.741568591866	0.73925	0.12471307705419836	0.12397	0.140332092331	0.15827	0.491998851299	0.37715	T	0.006118	0.05559	T	-0.573299	0.00211	T	-0.580685	0.14484	T	0.0164571894811833	0.00411	T	0.782822	0.41925	T	0.08475475	0.19631	0.06132504	0.11821	0.08909026	0.20803	0.059703197	0.11248	-4.169	0.26301	T	0.16518105712076733	0.20460	0.099	0.16670	B	.	.	3.129037	0.42274	21.5	0.9978606915748448	0.87219	0.61917	0.31625	D	AEFDGBHCI	0.140246	0.26209	N	0.126214685035754	0.47687	2.991044	0.138291058977657	0.46526	2.89707	0.999371870790072	0.39355	0.656854	0.48797	0	0.382747	0.06278	2	0.67347	0.61138	0	0.636	0.56748	0	.	.	5.86	4.93	0.64394	1.528000	0.35592	4.928000	0.46104	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.7861:0.138:0.0759	9.76	0.39694	590	0.68897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1397.98	41	chr1	92291432	.	C	T	1397.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.21;DP=814;ExcessHet=0.0000;FS=3.557;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=-1.049e+00;SOR=1.115	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1329	20	0	1	0
chr1	92695323	92695323	A	G	exonic	EVI5	.	nonsynonymous SNV	EVI5:NM_001308248:exon7:c.T1028C:p.I343T	.	.	425	1074	23	0	0	23	0.0105942	.	.	696914	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.866	P	0.689	P	0.000	D	1.000	D	2.82	M	2.71	T	-1.076	T	0.067	T	0.942	3.324	17.18	5.94	2.269	7.238	16.391	0.491	0.0165308879045	0.0010	0.00119808	0.0016	0.0003	0.0029	0	0	0.0021	0.0023	0.0012	0.0015265	236	154602	rs143611208	0.0011	0.0011	0.0010	0.0012	0.0130	0.0010	0.0010	0.0107	0.0098	0.0003	0.0021	0.0181	0	1.876e-05	0.0130	0.0006	0.0029	0.0013	0.0012	0.0012	0.0011	0.0013	0.0025	0.0011	0.0010	0.0019	0.0016	0.0002	0.0022	0.0025	0.0164	0	0	0.0204	0.0009	0.0033	0.0010	0.003	0.68238	D	0.007	0.69154	D	0.866	0.47610	P	0.689	0.53736	P	0.000001	0.84330	D	0.094505	0.999991	0.58761	D	2.39	0.68882	M	2.71	0.12055	T	-3.53	0.68532	D	0.935	0.95725	-1.0756	0.08225	T	0.067	0.27399	T	10	0.016174048	0.00340	T	0.016531	0.37830	T	0.491	0.77783	.	.	0.619591805948	0.61650	0.5793876450630442	0.57867	0.210088818001	0.23489	0.822443246841	0.85403	D	0.101919	0.40914	T	-0.110442	0.34697	T	0.0627242	0.74426	D	0.0530220033406566	0.06023	T	0.989121	0.96387	D	0.53860325	0.69318	0.6220798	0.77981	0.53860325	0.69319	0.6220798	0.77982	-10.893	0.79068	D	.	.	0.514	0.65221	A	.;.	.;.	4.005771	0.59058	24.1	0.99510102654907284	0.68558	0.97716	0.76619	D	AEFDBI	0.843182	0.76023	D	0.715053679385524	0.80619	7.33458	0.727966450223139	0.84502	8.309783	0.993715836966175	0.33326	0.706548	0.73137	0	0.588015	0.36545	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.94	5.94	0.96165	7.227000	0.77548	9.280000	0.79706	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.391	0.83373	352	0.85375	Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	782.98	34	chr1	92695323	.	A	G	782.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.607;DP=766;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.79;ReadPosRankSum=0.643;SOR=0.782	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1004	20	0	1	0
chr1	92697884	92697884	C	T	exonic	EVI5	.	nonsynonymous SNV	EVI5:NM_001308248:exon6:c.G873A:p.M291I	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.033	B	0.04	B	0.000	D	1.000	D	0.675	N	1.98	T	-1.060	T	0.023	T	0.962	2.925	15.75	5.6	2.633	6.077	19.597	0.309	0.0235264852585	.	.	0.0002	0	8.64e-05	0	0	0	0	0.0012	0.0001294	20	154602	rs200535224	7.6e-05	7.593e-05	5.177e-05	0.0001	0.0011	6.429e-05	6.009e-05	0.0009	0.0009	0	0	0	0	0	0.0002	1.08e-05	3.314e-05	0.0011	6.567e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.268	0.16144	T	0.395	0.15255	T	0.033	0.20350	B	0.04	0.23831	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.8	0.19659	N	1.98	0.21865	T	-1.79	0.42191	N	0.885	0.89242	-1.0599	0.11781	T	0.023	0.09832	T	10	0.28651103	0.46233	T	0.023526	0.46494	T	0.309	0.63055	0.537	0.64730	0.350307294319	0.34646	0.6927224875181409	0.69212	0.370074800764	0.38539	0.829637765884	0.86507	D	0.015965	0.13288	T	-0.0980275	0.36751	T	0.0408621	0.72984	D	0.10691695621524	0.13100	T	0.821518	0.48098	T	0.39506978	0.60389	0.3746165	0.62623	0.39506978	0.60390	0.3746165	0.62623	-4.22	0.27169	T	.	.	0.783	0.76497	P	.;.	.;.	4.080937	0.60700	24.2	0.9860804838753352	0.43598	0.93769	0.59138	D	AEFBHCI	0.716073	0.66802	D	0.0248631807937105	0.42988	2.600643	0.243263178954574	0.52266	3.402705	0.99999999872798	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.6	5.6	0.84997	7.894000	0.85895	6.019000	0.52765	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.597	0.95539	341	0.85936	Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1537.98	44	chr1	92697884	.	C	T	1537.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.500e-02;DP=957;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.74;ReadPosRankSum=0.345;SOR=0.740	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr1	93136807	93136807	G	A	exonic	MTF2	.	nonsynonymous SNV	MTF2:NM_001164393:exon13:c.G1256A:p.G419D	.	.	425	1076	18	3	0	24	0.0110294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.0	B	0.001	B	0.000	D	0.999	D	0.55	N	1.96	T	-1.050	T	0.028	T	0.433	3.067	16.24	5.9	2.806	4.112	20.282	0.120	0.00401574286492	0.0008	0.00199681	0.0015	0.0002	0.0003	0	0.0002	0.0010	0	0.0061	0.0013713	212	154602	rs141738080	0.0015	0.0015	0.0013	0.0017	0.0069	0.0015	0.0014	0.0065	0.0063	0.0004	0.0003	0.0009	0	7.488e-05	0.0050	0.0013	0.0016	0.0069	0.0009	0.0009	0.0010	0.0009	0.0070	0.0008	0.0008	0.0052	0.0045	0.0002	0	0.0007	0.0009	0	0	0.0068	0.0012	0.0014	0.0070	0.308	0.26852	T	0.587	0.09175	T	0.0	0.02946	B	0.0	0.01387	B	0.000075	0.52346	D	0.176990	0.998587	0.45122	D	0	0.06538	N	1.54	0.30133	T	-0.72	0.27669	N	0.138	0.17553	-1.0501	0.14369	T	0.028	0.12103	T	10	0.004812598	0.00102	T	0.004016	0.09525	T	0.120	0.33359	.	.	0.316310170894	0.31242	0.2567057432622529	0.25584	0.377117936334	0.39146	0.604843616486	0.53588	T	0.136939	0.46959	T	-0.477519	0.00765	T	-0.455949	0.27042	T	0.0221687447915002	0.00928	T	0.815518	0.47040	T	0.18423568	0.39729	0.49373773	0.70718	0.18423568	0.39728	0.49373773	0.70719	-2.069	0.03453	T	.	.	0.096	0.15206	B	.;.;.;.	.;.;.;.	3.032618	0.40627	21.2	0.99292407325838206	0.58326	0.89745	0.50409	D	AEFBCI	0.418078	0.48586	N	-0.0993309928434743	0.37421	2.176927	0.147080332813538	0.46987	2.935897	0.999109479316504	0.38452	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	3.107000	0.50021	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.282	0.98522	388	0.83355	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	4782.68	141	chr1	93136807	.	G	A	4782.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.544;DP=1187;ExcessHet=0.3300;FS=1.108;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.80;ReadPosRankSum=0.244;SOR=0.817	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	3	0
chr1	93239851	93239851	T	G	exonic	CCDC18	.	stopgain	CCDC18:NM_001306076:exon21:c.T2933G:p.L978X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	.	.	.	.	-0.975	T	0.100	T	.	5.137	32	5.73	2.174	4.295	16.019	0.151	.	.	.	8.314e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs764868486	3.423e-06	3.42e-06	5.45e-06	1.376e-06	4.499e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.499e-06	0	0	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.018426	0.27485	N	0.291167	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.457	0.49420	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.468487	0.93276	D	0.435172	0.93191	D	0.994761526584625	0.86260	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	8.377605	0.97493	37	0.99169982792758415	0.54355	0.86003	0.45206	D	AEFBCI	0.682655	0.64560	D	0.964087512073847	0.94527	12.82842	0.790583216188882	0.89132	9.850697	0.868090131995479	0.25359	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.528226	0.09195	0	.	.	5.73	5.73	0.89730	4.290000	0.58812	.	.	0.665000	0.62972	0.979000	0.35152	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.019	0.80268	436	0.80373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1667	30.81	31	chr1	93239851	.	T	G	30.81	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-1.500e-02;DP=753;ExcessHet=0.0000;FS=139.025;InbreedingCoeff=-0.2601;MLEAC=3;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=0.60;ReadPosRankSum=0.373;SOR=6.089	GT:AD:DP:GQ:PL	./.:29,0:29:0:0,0,0	2	0	1	18
chr1	93246862	93246862	C	T	exonic	CCDC18	.	nonsynonymous SNV	CCDC18:NM_001306076:exon23:c.C3103T:p.R1035C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	1.67	L	-1.2	T	0.116	D	0.537	D	0.767	4.346	22.9	5.24	2.435	5.458	18.816	0.609	0.0541253181638	.	.	1.666e-05	0	0	0	0	1.508e-05	0	6.076e-05	1.94e-05	3	154602	rs757538758	5.075e-06	1.164e-05	2.901e-06	7.248e-06	6.18e-05	2.11e-06	1.36e-06	2.406e-05	1.511e-05	0	0	0	0	0	0	9.547e-07	1.737e-05	6.18e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.005	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.005	0.54552	M	-1.2	0.78537	T	-4.81	0.80767	D	0.509	0.64989	0.116	0.84472	D	0.537	0.82882	D	10	0.7058997	0.72735	D	0.054125	0.65736	D	0.609	0.84666	0.372	0.38340	0.760880696488	0.75870	0.2966828084306163	0.29581	.	.	0.760693073273	0.76032	T	0.292733	0.66545	T	0.15988	0.70189	D	0.101938	0.77037	D	0.992017388343811	0.82399	D	0.917708	0.70674	D	0.6249369	0.74027	0.4005653	0.64589	0.6249369	0.74028	0.4005653	0.64589	-12.281	0.86192	D	.	.	0.179	0.40279	B	.;.;.	.;.;.	5.526849	0.91835	32	0.99900498769451551	0.97275	0.92476	0.55800	D	AEFI	0.750310	0.69147	D	0.692492765477962	0.79140	7.015328	0.675540060762139	0.80525	7.318384	0.999763781092684	0.42728	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.24	5.24	0.72863	5.296000	0.65493	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:1.0:0.0:0.0	18.816	0.92044	437	0.80299	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1537.98	33	chr1	93246862	.	C	T	1537.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.182;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=0.656;SOR=0.655	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr1	93567485	93567485	G	A	exonic	BCAR3	.	nonsynonymous SNV	BCAR3:NM_001308251:exon7:c.C1121T:p.T374I	.	.	434	1059	28	1	0	30	0.0139665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.006	B	0.009	B	0.758	N	1.000	N	0.55	N	1.63	T	-0.969	T	0.022	T	0.13	1.816	12.03	2.55	0.823	0.162	9.619	0.033	0.00678956333213	0.0008	0.00159744	0.0021	0.0004	0.0035	0	0	0.0026	0.0011	0.0021	0.0019017	294	154602	rs148402464	0.0015	0.0015	0.0013	0.0016	0.0250	0.0014	0.0014	0.0216	0.0204	0.0003	0.0028	0.0161	0	0.0002	0.0250	0.0010	0.0029	0.0027	0.0015	0.0015	0.0014	0.0015	0.0030	0.0013	0.0012	0.0023	0.0021	0.0002	0	0.0030	0.0153	0	0	0.0204	0.0014	0.0033	0.0014	0.081	0.33418	T	0.179	0.29540	T	0.004	0.12183	B	0.009	0.14300	B	0.757912	0.06523	N	1.096050	1	0.08975	N	0.69	0.16971	N	1.63	0.28002	T	-0.86	0.24460	N	0.228	0.25622	-0.9694	0.37324	T	0.022	0.09330	T	10	0.005708635	0.00127	T	0.00679	0.17953	T	0.033	0.08068	.	.	0.252829632966	0.24901	0.18899543966685334	0.18817	0.140310390086	0.15819	0.335897445679	0.15823	T	0.087652	0.37988	T	-0.587118	0.00174	T	-0.621369	0.11078	T	0.00950938775342132	0.00123	T	0.60094	0.24712	T	0.091962434	0.21564	0.08814213	0.20533	0.091962434	0.21563	0.08814213	0.20533	-7.122	0.55193	T	.	.	0.075	0.08465	B	.;.;.;.;.	.;.;.;.;.	1.378139	0.17892	13.43	0.94764664486338368	0.25478	0.03954	0.09357	N	ALL	0.079410	0.16038	N	-0.760733369956751	0.14343	0.7137138	-0.719846110004951	0.16466	0.8712382	0.999999999999995	0.74766	0.730579	0.87903	0	0.653731	0.59785	0	0.643519	0.47002	0	0.648885	0.59868	0	.	.	5.85	2.55	0.29757	0.567000	0.23311	.	.	0.676000	0.76740	0.001000	0.13787	0.062000	0.22056	0.922000	0.45779	0.3116:0.0:0.6884:0.0	9.619	0.38874	317	0.87119	.;.;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1373.98	39	chr1	93567485	.	G	A	1373.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.363e+00;DP=844;ExcessHet=0.0000;FS=3.889;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.57;ReadPosRankSum=-6.850e-01;SOR=0.300	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr1	93589193	93589193	C	T	exonic	BCAR3	.	nonsynonymous SNV	BCAR3:NM_001261410:exon3:c.G440A:p.R147H	.	.	430	1087	5	0	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.998	D	0.000	D	1.000	D	2.035	M	-0.06	T	-0.328	T	0.368	T	0.538	5.362	34	4.96	2.468	5.532	18.566	0.283	.	0.0023	0.00299521	0.0021	0.0009	0.0004	0	0.0003	0.0024	0.0023	0.0044	0.0020892	323	154602	rs137969427	0.0032	0.0032	0.0033	0.0032	0.0043	0.0032	0.0031	0.0039	0.0038	0.0007	0.0007	0.0011	5.038e-05	0.0003	0.0016	0.0037	0.0028	0.0043	0.0019	0.0019	0.0019	0.0019	0.0035	0.0017	0.0016	0.0029	0.0028	0.0007	0	0.0007	0.0003	0	9.418e-05	0.0034	0.0032	0.0014	0.0035	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.05	0.56469	M	-0.06	0.63568	T	-3.33	0.66206	D	0.421	0.47115	-0.3275	0.74206	T	0.368	0.72780	T	10	0.009253174	0.00209	T	.	.	.	0.283	0.60100	.	.	0.63039333651	0.62737	0.5347690251867538	0.53401	0.653951524495	0.58502	0.668007493019	0.62554	T	0.416087	0.76914	T	-0.269542	0.11807	T	-0.159001	0.58442	T	0.0337550608146583	0.02596	T	0.985301	0.94937	D	0.43341994	0.62976	0.27022064	0.52911	0.43341994	0.62976	0.27022064	0.52910	-4.777	0.34322	T	.	.	0.263	0.49778	B	.;.;.;.	.;.;.;.	5.435323	0.90871	32	0.99954797058971256	0.99969	0.96078	0.67433	D	AEFDBHCI	0.731285	0.67841	D	0.707485585597362	0.80125	7.225114	0.677688086251069	0.80690	7.354792	0.999999999999991	0.74766	0.722319	0.85440	0	0.708844	0.79440	0	0.650271	0.49498	0	0.735409	0.98432	0	.	.	4.96	4.96	0.65153	5.479000	0.66538	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:1.0:0.0:0.0	18.566	0.91069	279	0.89001	.;SH2 domain|SH2 domain;SH2 domain|SH2 domain;SH2 domain|SH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1318.98	33	chr1	93589193	.	C	T	1318.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.676;DP=797;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=1.47;SOR=0.775	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1169	20	0	1	0
chr1	93877160	93877160	T	C	exonic	DNTTIP2	.	nonsynonymous SNV	DNTTIP2:NM_014597:exon2:c.A775G:p.N259D,	.	.	430	1088	3	1	0	5	0.00229253	.	.	2699647	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.0	B	0.001	B	0.269	N	1.000	N	1.87	L	2.58	T	-0.949	T	0.011	T	0.018	-1.272	0.044	-6.65	-1.290	-0.299	3.085	0.060	0.00220865546612	.	.	4.98e-05	0	0	0	0.0002	3.005e-05	0	0.0002	3.88e-05	6	154602	rs764729684	3.149e-05	3.147e-05	2.588e-05	3.715e-05	0.0007	2.414e-05	2.159e-05	0.0002	0.0001	0	0	0	0	3.797e-05	0.0007	2.608e-05	6.628e-05	8.12e-05	1.97e-05	1.97e-05	1.284e-05	2.689e-05	4.408e-05	5.24e-06	2.45e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.408e-05	0	0	0.008	0.58626	D	0.109	0.37449	T	0.0	0.02946	B	0.001	0.04355	B	0.269127	0.03761	N	1.518450	1	0.08975	N	1.65	0.42232	L	2.58	0.13434	T	-1.39	0.34397	N	0.052	0.02366	-0.9487	0.41194	T	0.011	0.03996	T	10	0.041187108	0.02752	T	0.002209	0.04178	T	0.060	0.17295	0.086	0.00867	0.0884992946249	0.08302	0.096594111951845	0.09591	0.0706007895718	0.07910	0.2919459939	0.09205	T	0.013045	0.11355	T	-0.586581	0.00176	T	-0.820681	0.01438	T	0.0484923243938724	0.05232	T	0.49875	0.15541	T	0.17244938	0.37937	0.07688807	0.17075	0.17244938	0.37937	0.07688807	0.17075	-2.796	0.08147	T	.	.	0.066	0.02173	B	.	.	-0.867055	0.00982	0.039	0.43076528454710916	0.03218	0.09069	0.14898	N	AEFBCI	0.046741	0.07794	N	-1.70113991315903	0.00838	0.03622861	-1.83191969334611	0.00662	0.02946031	0.999999804393829	0.74766	0.722319	0.85440	0	0.662677	0.63036	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	4.2	-6.65	0.01630	-0.268000	0.08637	.	.	-1.679000	0.00788	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1002:0.361:0.252:0.2868	3.085	0.05896	427	0.81056	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2630.98	33	chr1	93877160	.	T	C	2630.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.016e+00;DP=1983;ExcessHet=0.0000;FS=4.796;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=1.56;SOR=0.649	GT:AD:DP:GQ:PL	0/0:139,0:139:99:0,120,1800	20	0	1	0
chr1	94008251	94008251	C	T	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon42:c.G5882A:p.G1961E,	Cone-rod dystrophy 3;Fundus flavimaculatus, Autosomal recessive;Retinal dystrophy, early-onset severe, Autosomal recessive;Retinitis pigmentosa 19;Stargardt disease 1, Autosomal recessive	YES	0	1444	76	2	0	80	0.0269542	.	.	22927	Cone-rod_dystrophy_3|Retinitis_pigmentosa_19|Severe_early-childhood-onset_retinal_dystrophy|ABCA4-related_retinopathy|not_provided|ABCA4-related_disorder|Inborn_genetic_diseases|Age_related_macular_degeneration_2|Retinitis_pigmentosa|See_cases|Retinal_dystrophy|Stargardt_disease|Macular_dystrophy|MACULAR_DEGENERATION,_AGE-RELATED,_2,_SUSCEPTIBILITY_TO|not_specified	MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116,Orphanet:1872|MONDO:MONDO:0011137,MedGen:C1866422,OMIM:601718,Orphanet:791|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Orphanet:364055,Orphanet:827|MONDO:MONDO:0800406,MedGen:CN322612|MedGen:C3661900|MedGen:CN239167|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007932,MedGen:C3495438,OMIM:153800|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|.|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827|Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic/Pathogenic,_low_penetrance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	-0.545	N	-3.22	D	0.718	D	0.700	D	0.983	4.439	23.6	5.35	2.941	5.668	19.614	0.760	.	0.0032	0.00319489	0.0051	0.0009	0.0022	0.0003	0.0008	0.0047	0.0099	0.0150	0.0046054	712	154602	rs1800553	0.0034	0.0035	0.0030	0.0038	0.0205	0.0034	0.0033	0.0175	0.0163	0.0011	0.0018	0.0222	0.0005	0.0012	0.0205	0.0024	0.0055	0.0131	0.0031	0.0031	0.0030	0.0032	0.0127	0.0029	0.0028	0.0101	0.0092	0.0006	0	0.0038	0.0239	0	0.0009	0.0238	0.0032	0.0047	0.0127	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.115	0.04602	N	-3.22	0.93352	D	-6.59	0.91998	D	0.958	0.96758	0.718	0.93404	D	0.700	0.89672	D	10	0.013598174	0.00288	T	.	.	.	0.760	0.91837	.	.	0.95236220007	0.95186	0.9507908195564003	0.95063	0.525691241502	0.50218	0.808941185474	0.83330	D	0.735078	0.96525	D	0.104235	0.64747	D	0.388626	0.91732	D	0.0712524204673148	0.08825	T	0.987126	0.95588	D	0.9324829	0.94486	0.8545386	0.91810	0.84769195	0.87167	0.8462905	0.91256	-11.219	0.80845	D	.	.	0.798	0.79927	P	.;.	.;.	4.838295	0.78968	27.0	0.99769034245070287	0.85750	0.99004	0.89829	D	AEFGBI	0.838463	0.75598	D	0.346386318059294	0.58550	4.028	0.449684121595667	0.64697	4.730842	0.999999999850586	0.74766	0.549168	0.22868	0	0.563428	0.19063	0	0.59043	0.30614	0	0.616125	0.45549	0	.	.	5.35	5.35	0.76297	5.885000	0.69480	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.698000	0.34080	0.0:1.0:0.0:0.0	19.614	0.95621	400	0.82730	ABC transporter-like|ABC transporter-like;ABC transporter-like|ABC transporter-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2958.08	33	chr1	94008251	.	C	T	2958.08	.	AC=2;AF=0.048;AN=42;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.29;SOR=1.081	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1201	20	1	0	0
chr1	94055212	94055212	G	A	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon16:c.C2486T:p.T829M,	Cone-rod dystrophy 3;Fundus flavimaculatus, Autosomal recessive;Retinal dystrophy, early-onset severe, Autosomal recessive;Retinitis pigmentosa 19;Stargardt disease 1, Autosomal recessive	.	0	1515	7	0	0	7	0.00230491	.	.	864870	not_provided|Retinal_dystrophy|ABCA4-related_disorder	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:CN239167	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.23	T	0.007	B	0.017	B	0.067	N	1.000	N	-0.09	N	-3.47	D	-0.599	T	0.374	T	0.666	0.930	8.790	3.12	0.387	5.350	8.965	0.471	0.194180348299	0.0002	.	0.0001	0.0003	8.643e-05	0.0003	0	8.991e-05	0	0.0002	0.0001423	22	154602	rs139250920	0.0001	0.0001	0.0001	0.0001	0.0094	0.0001	0.0001	0.0074	0.0067	0.0004	6.708e-05	7.652e-05	0.0003	0	0.0094	7.464e-05	0.0001	8.115e-05	0.0003	0.0003	0.0003	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	6.545e-05	0	0.0004	0	0	0.0002	0.0005	0	0.44	0.09264	T	0.314	0.19480	T	0.007	0.14184	B	0.017	0.18140	B	0.066672	0.21794	N	0.517808	0.992848	0.26009	N	-0.055	0.04927	N	-3.47	0.94546	D	1.58	0.00668	N	0.704	0.70790	-0.5993	0.64846	T	0.374	0.73257	T	10	0.07959357	0.12823	T	0.19418	0.86348	D	0.471	0.76487	.	.	0.834247670492	0.83267	0.4336615806288697	0.43283	0.0883837268346	0.09985	0.19406054914	0.00305	T	0.376374	0.73978	T	-0.0801636	0.39687	T	0.0290421	0.72216	D	0.0170043783631065	0.00449	T	0.715628	0.38584	T	0.019819403	0.00521	0.04557717	0.06162	0.02232489	0.00887	0.045260582	0.06049	-0.032	0.00361	T	.	.	0.050	0.01810	B	.;.	.;.	1.981107	0.25168	16.66	0.53777233123094659	0.05006	0.23018	0.21939	N	AEFBI	0.070139	0.13913	N	-0.594485920922465	0.19110	0.9976686	-0.406601384162508	0.24803	1.360294	0.999997728156487	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.41	3.12	0.34986	5.338000	0.65718	3.590000	0.39186	-0.130000	0.13190	1.000000	0.71638	0.992000	0.31684	0.907000	0.44265	0.844:0.0:0.156:0.0	8.965	0.35033	631	0.64944	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1671.98	33	chr1	94055212	.	G	A	1671.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.04;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.38;ReadPosRankSum=-4.230e-01;SOR=0.706	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr1	94189222	94189222	T	C	exonic	ARHGAP29	.	nonsynonymous SNV	ARHGAP29:NM_001328665:exon13:c.A1378G:p.I460V	.	.	438	1079	5	0	0	5	0.0023116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.001	B	0.001	B	0.900	N	1.000	N	0.425	N	1.98	T	-0.922	T	0.008	T	0.033	0.751	7.981	-3.47	-0.833	-0.231	7.124	0.018	0.00279206099508	.	0.000798722	0.0001	0	0.0002	0	0	0	0	0.0008	0.0001164	18	154602	rs532953220	6.382e-05	6.43e-05	3.686e-05	9.107e-05	0.0014	5.311e-05	4.926e-05	0.0007	0.0005	6.01e-05	2.282e-05	0	0	0	0.0014	1.891e-05	4.982e-05	0.0007	3.283e-05	3.281e-05	2.571e-05	4.028e-05	0.0008	1.26e-05	7.98e-06	0.0003	0.0002	2.405e-05	0	0	0	0	0	0	0	0	0.0008	0.572	0.06145	T	0.309	0.19782	T	0.001	0.07471	B	0.0	0.01387	B	0.899583	0.08629	N	0.941684	1	0.08975	N	0.455	0.12820	N	1.98	0.21865	T	-0.03	0.07444	N	0.057	0.02861	-0.9223	0.45238	T	0.008	0.02926	T	10	0.0038884878	0.00074	T	0.002792	0.05810	T	0.018	0.03083	.	.	0.110392049598	0.10638	0.17795188251831348	0.17714	0.114630433972	0.12926	0.275270462036	0.06842	T	0.023127	0.17709	T	-0.654897	0.00068	T	-0.803847	0.01808	T	0.00838637687599678	0.00101	T	0.542746	0.18485	T	0.02397662	0.01186	0.021897929	0.00227	0.02397662	0.01186	0.021897929	0.00227	-3.556	0.17225	T	.	.	0.057	0.00524	B	.	.	0.163267	0.05536	1.995	0.67327486260995439	0.08322	0.10088	0.15690	N	AEBI	0.075007	0.15051	N	-1.25079206633741	0.04289	0.1932995	-1.2239356063592	0.05527	0.263604	0.91325485819146	0.26418	0.67177	0.52595	0	0.573888	0.26702	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	5.76	-3.47	0.04452	-0.234000	0.09044	-2.348000	0.03868	-0.127000	0.13314	0.000000	0.06391	0.000000	0.08366	0.994000	0.71098	0.0:0.3884:0.1239:0.4877	7.124	0.24639	776	0.48302	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	608.98	37	chr1	94189222	.	T	C	608.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.650e-01;DP=767;ExcessHet=0.0000;FS=0.972;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.23;ReadPosRankSum=1.55;SOR=0.483	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1237	20	0	1	0
chr1	94857391	94857391	C	T	exonic	SLC44A3	.	nonsynonymous SNV	SLC44A3:NM_001258342:exon9:c.C1021T:p.R341W	.	.	427	1092	3	0	0	3	0.00137174	.	.	2335109	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.983	D	0.029	N	1.000	D	2.49	M	1.93	T	-1.023	T	0.114	T	0.588	3.697	18.78	4.8	2.511	4.352	11.941	0.281	0.0260845265698	.	0.000199681	8.243e-05	0	0.0006	0	0	1.5e-05	0	0.0001	7.12e-05	11	154602	rs142721068	6.432e-05	6.43e-05	6.127e-05	6.74e-05	0.0005	5.363e-05	4.978e-05	0.0003	0.0003	0	0.0005	0	0	0	0	5.486e-05	3.312e-05	0.0001	5.253e-05	5.249e-05	5.139e-05	5.372e-05	0.0001	2.556e-05	1.829e-05	2.846e-05	1.858e-05	0	0	0.0001	0	0	0	0	7.349e-05	0.0005	0	0.003	0.68238	D	0.01	0.66756	D	0.928	0.90584	P	0.631	0.72444	P	0.029176	0.25493	N	0.289069	0.999879	0.50225	D	2.255	0.64187	M	1.93	0.22881	T	-4.5	0.78135	D	0.69	0.69562	-1.0231	0.22704	T	0.114	0.40605	T	10	0.4808336	0.60420	T	0.026085	0.49023	D	0.281	0.59861	.	.	0.382925413656	0.37900	0.3919339828726339	0.39108	0.601515710117	0.55188	0.287037789822	0.08493	T	0.064336	0.32408	T	-0.298199	0.08829	T	-0.307537	0.43924	T	0.688658177852631	0.40186	D	0.943406	0.78638	D	0.5347732	0.69102	0.4752286	0.69590	0.5347732	0.69103	0.4752286	0.69590	-6.405	0.49782	T	.	.	0.095	0.16187	B	.;.;.;.;.;.	.;.;.;.;.;.	4.656088	0.74273	26.1	0.99921024608541942	0.98721	0.96082	0.67451	D	AEFBI	0.863371	0.78189	D	0.604937583160892	0.73485	5.974019	0.538926801532796	0.70631	5.533605	0.999999999588032	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.584449	0.35598	0	.	.	4.8	4.8	0.61157	4.561000	0.60519	3.230000	0.36903	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.731000	0.35132	0.0:0.9088:0.0:0.0912	11.941	0.52186	660	0.61921	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	774.98	34	chr1	94857391	.	C	T	774.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.390e+00;DP=759;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=-7.020e-01;SOR=0.648	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1141	20	0	1	0
chr1	94903484	94903484	C	A	exonic	CNN3	.	nonsynonymous SNV	CNN3:NM_001286055:exon2:c.G98T:p.R33L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.987	D	0.991	D	0.000	D	1.000	D	1.605	L	-3.06	D	0.667	D	0.819	D	0.921	5.718	36	5.85	2.753	7.811	20.165	0.841	0.224771133539	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.21884	T	0.371	0.16425	T	0.987	0.61912	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.66	0.42513	L	-3.06	0.92457	D	-5.34	0.84674	D	0.81	0.83167	0.667	0.92757	D	0.819	0.93919	D	10	0.8533783	0.84524	D	0.224771	0.87966	D	0.841	0.95026	0.547	0.66156	0.892210669109	0.89114	0.9152503272479775	0.91500	2.12007149357	0.94997	0.745511889458	0.73784	T	0.648976	0.89325	D	0.447419	0.92366	D	0.40491	0.92272	D	0.998229205608368	0.93561	D	0.935906	0.84855	D	0.59895104	0.72635	0.616039	0.77648	0.59895104	0.72636	0.616039	0.77649	-11.762	0.83672	D	.	.	0.891	0.82175	P	.;.	.;.	4.906557	0.80697	27.4	0.99762702395885638	0.85172	0.99071	0.90800	D	AEFDGBIJ	0.963454	0.98535	D	0.713692392527125	0.80529	7.31455	0.759042602355502	0.86831	9.017137	1.0	0.98316	0.722319	0.85440	0	0.659464	0.62310	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	5.85	5.85	0.93663	7.899000	0.85994	5.956000	0.51737	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.165	0.98148	614	0.66605	.;Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1633.98	43	chr1	94903484	.	C	A	1633.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.61;DP=903;ExcessHet=0.0000;FS=2.831;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.41;ReadPosRankSum=-9.550e-01;SOR=0.925	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,959	20	0	1	0
chr1	95072786	95072786	C	A	exonic	ALG14	.	nonsynonymous SNV	ALG14:NM_001305242:exon1:c.G113T:p.S38I	.	.	436	1084	2	0	0	2	0.000921659	.	.	271566	Congenital_myasthenic_syndrome_15|not_provided|not_specified|ALG14-related_disorder	MONDO:MONDO:0014542,MedGen:C4015596,OMIM:616227,Orphanet:353327,Orphanet:590|MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	0.573	P	0.19	B	0.067	N	0.946	D	0	N	0.86	T	-1.042	T	0.043	T	0.392	2.249	13.48	4.99	2.591	1.131	15.802	0.096	0.0105702927629	0.0033	0.000998403	0.0019	0.0008	0.0022	0	0.0002	0.0029	0	0	0.0020957	324	154602	rs139521179	0.0032	0.0032	0.0032	0.0031	0.0039	0.0031	0.0031	0.0038	0.0038	0.0004	0.0015	3.826e-05	0	0.0003	0.0007	0.0039	0.0026	2.319e-05	0.0022	0.0022	0.0027	0.0017	0.0042	0.0020	0.0020	0.0038	0.0036	0.0007	0	0.0010	0	0	0.0006	0	0.0042	0.0014	0	0.067	0.35918	T	0.147	0.32783	T	0.573	0.38659	P	0.19	0.36341	B	0.066526	0.21804	N	0.528179	0.946221	0.37519	D	1.795	0.47270	L	0.86	0.46777	T	-2.65	0.56787	D	0.433	0.47208	-1.0424	0.16592	T	0.043	0.18535	T	10	0.013941169	0.00294	T	0.01057	0.27259	T	0.096	0.27654	.	.	0.657190473102	0.65432	0.8047380235585493	0.80427	0.509770243166	0.49108	0.401813328266	0.25321	T	0.372007	0.73628	T	-0.427909	0.01526	T	-0.38441	0.35207	T	0.0527564928965084	0.05977	T	0.69743	0.30707	T	0.702524	0.78194	0.68173116	0.81295	0.8065867	0.84331	0.7541591	0.85471	-9.494	0.70821	D	0.5038724484707151	0.57866	0.440	0.61685	A	.	.	3.531439	0.49552	22.8	0.9769202859080538	0.35382	0.75500	0.36969	D	ALL	0.307074	0.41405	N	-0.105828151773638	0.37139	2.156419	0.00676967142221621	0.40028	2.382454	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.99	4.99	0.65942	1.159000	0.31360	2.002000	0.30126	0.529000	0.24592	0.866000	0.30720	0.938000	0.28711	0.935000	0.47363	0.0:1.0:0.0:0.0	15.802	0.78236	867	0.32089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2434.98	34	chr1	95072786	.	C	A	2434.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.459e+00;DP=913;ExcessHet=0.0000;FS=1.606;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.54;ReadPosRankSum=1.80;SOR=0.572	GT:AD:DP:GQ:PL	0/1:122,109:231:99:2449,0,3170	20	0	1	0
chr1	97699507	97699507	G	C	exonic	DPYD	.	nonsynonymous SNV	DPYD:NM_000110:exon6:c.C524G:p.S175W,	Dihydropyrimidine dehydrogenase deficiency, Autosomal recessive;5-fluorouracil toxicity, Autosomal recessive	YES	0	1520	1	1	0	3	0.000985869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.9	P	0.473	P	0.005	N	1.000	D	1.795	L	-2.99	D	0.119	D	0.605	D	0.341	2.980	15.93	2.6	0.288	2.327	11.472	0.408	0.131913296895	.	0.000199681	1.649e-05	0	0	0	0	2.999e-05	0	0	1.94e-05	3	154602	rs371792178	4.106e-06	4.104e-06	2.723e-06	5.502e-06	5.398e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.398e-06	0	0	1.315e-05	1.312e-05	1.286e-05	1.345e-05	6.561e-05	2.18e-06	8.2e-07	.	.	0	0	6.561e-05	0	0	0	0	1.471e-05	0	0	0.009	0.57480	D	0.01	0.65728	D	0.9	0.49598	P	0.473	0.46845	P	0.005328	0.32892	N	0.325610	0.999999	0.81001	D	0.345	0.11182	N	-2.99	0.92108	D	-3.44	0.67477	D	0.444	0.48227	0.119	0.84522	D	0.605	0.85979	D	10	0.2439948	0.41624	T	0.131913	0.81420	D	0.408	0.72022	0.375	0.38830	0.918466563785	0.91764	0.5643580757601343	0.56362	0.236595121001	0.26196	0.434350669384	0.29804	T	0.517774	0.83078	D	0.0220098	0.54652	T	-0.142515	0.59899	T	0.599578145576132	0.36384	D	0.962504	0.85970	D	0.09641819	0.22709	0.07599471	0.16786	0.09641819	0.22709	0.07599471	0.16785	-13.975	0.92974	D	0.3979155289464447	0.49016	0.182	0.39562	B	.	.	2.546568	0.32951	19.20	0.99026773464545537	0.50699	0.87759	0.47408	D	AEFBI	0.563677	0.57077	D	-0.000134985729398435	0.41848	2.510633	-0.0136762523610614	0.39095	2.312979	4.08599156952359E-4	0.06860	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.5	2.6	0.30173	2.327000	0.43517	1.884000	0.29472	-0.161000	0.11593	0.978000	0.35038	0.949000	0.28973	0.927000	0.46353	0.1992:0.0:0.8008:0.0	11.472	0.49522	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1016.98	35	chr1	97699507	.	G	C	1016.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.750e-01;DP=750;ExcessHet=0.0000;FS=1.005;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.89;ReadPosRankSum=-1.400e-02;SOR=0.560	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1246	20	0	1	0
chr1	99687111	99687111	C	G	exonic	PALMD	.	nonsynonymous SNV	PALMD:NM_017734:exon6:c.C436G:p.L146V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.998	D	0.002	N	1.000	D	1.575	L	2.2	T	-1.116	T	0.096	T	0.522	3.396	17.46	5.63	2.826	3.453	20.057	0.192	0.0102228937015	.	0.000798722	0.0003	0	0	0	0	0	0	0.0020	0.0002329	36	154602	rs553485814	0.0001	0.0001	4.116e-05	0.0002	0.0018	9.176e-05	8.703e-05	0.0015	0.0015	0	0	0	0	0	0	1.811e-06	0	0.0018	7.233e-05	7.221e-05	2.572e-05	0.0001	0.0023	3.974e-05	3.129e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.056	0.38185	T	0.327	0.23365	T	1.0	0.90584	D	0.998	0.88582	D	0.001966	0.37549	N	0.232423	0.99961	0.47849	D	1.74	0.45129	L	2.2	0.18570	T	-0.8	0.22078	N	0.332	0.39052	-1.1156	0.02630	T	0.096	0.36133	T	10	0.015696704	0.00329	T	0.010223	0.26500	T	0.192	0.47115	0.325	0.30711	0.490701487448	0.48705	0.4196812677548226	0.41884	0.241882265357	0.26705	0.53315538168	0.43479	T	0.012863	0.11231	T	-0.405687	0.02124	T	-0.374532	0.36360	T	0.148247188534077	0.16963	T	0.824718	0.65471	T	0.103059284	0.24356	0.12170516	0.29363	0.103059284	0.24356	0.12170516	0.29362	-3.585	0.20208	T	.	.	0.346	0.62752	A	.;.;.	.;.;.	4.420658	0.68469	25.2	0.99818259853161451	0.90150	0.94917	0.62779	D	AEFBI	0.584867	0.58351	D	0.681909761560086	0.78448	6.873513	0.688884237540833	0.81533	7.54938	0.999999898505875	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	3.463000	0.52814	6.003000	0.52520	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.057	0.97657	839	0.37672	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1271.98	33	chr1	99687111	.	C	G	1271.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.373e+00;DP=881;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=-4.600e-02;SOR=0.709	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1200	20	0	1	0
chr1	99689087	99689087	C	T	exonic	PALMD	.	nonsynonymous SNV	PALMD:NM_017734:exon7:c.C827T:p.T276M,	.	.	433	1074	14	1	0	16	0.00739372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.752	P	0.026	B	0.835	N	1.000	N	0	N	2.19	T	-0.975	T	0.006	T	0.09	-0.244	2.824	0.667	0.171	0.474	2.396	0.029	0.00621147428308	0.0017	0.00139776	0.0019	9.752e-05	0.0011	0.0001	0.0005	0.0024	0.0044	0.0032	0.0018887	292	154602	rs150035005	0.0015	0.0015	0.0013	0.0016	0.0064	0.0014	0.0014	0.0048	0.0042	0.0003	0.0018	0	5.039e-05	0.0005	0.0064	0.0014	0.0016	0.0034	0.0016	0.0016	0.0015	0.0016	0.0036	0.0014	0.0013	0.0028	0.0026	0.0002	0	0.0036	0	0.0002	0.0011	0.0034	0.0021	0.0033	0.0023	0.101	0.30375	T	0.233	0.24913	T	0.68	0.43309	P	0.026	0.20792	B	0.834603	0.06962	N	1.068040	1	0.08975	N	0.345	0.11182	N	2.19	0.18724	T	-0.04	0.07590	N	0.114	0.10198	-0.9751	0.36104	T	0.006	0.02055	T	10	0.003810972	0.00072	T	0.006211	0.16288	T	0.029	0.06676	.	.	0.380394304726	0.37652	0.33538978486146326	0.33451	0.0357936617355	0.03777	0.261952459812	0.05125	T	0.006929	0.06354	T	-0.628878	0.00097	T	-0.680107	0.06977	T	0.00318161430520586	0.00033	T	0.880112	0.59716	D	0.04825544	0.08380	0.038500525	0.03732	0.04825544	0.08379	0.038500525	0.03731	-4.892	0.36731	T	.	.	0.067	0.03060	B	.;.;.	.;.;.	1.292333	0.16934	12.85	0.8232332630396455	0.14133	0.07407	0.13427	N	AEFBI	0.101250	0.20340	N	-0.95383677188216	0.09607	0.455	-0.976264052836759	0.10320	0.5190062	0.997201536743409	0.35373	0.722319	0.85440	0	0.573888	0.26702	0	0.573888	0.23631	0	0.735409	0.98432	0	.	.	5.93	0.667	0.17076	0.634000	0.24304	1.030000	0.23473	-0.136000	0.12710	0.121000	0.23193	0.050000	0.21810	0.094000	0.17991	0.5443:0.1229:0.221:0.1118	2.396	0.04122	829	0.39537	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1499.98	33	chr1	99689087	.	C	T	1499.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.459;DP=814;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=0.598;SOR=0.676	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr1	99740922	99740922	C	A	exonic	FRRS1	.	nonsynonymous SNV	FRRS1:NM_001013660:exon6:c.G447T:p.K149N	.	.	436	1083	2	1	0	4	0.00184332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.029	B	0.018	B	0.001	N	1.000	D	-0.115	N	.	.	-1.088	T	0.032	T	0.251	0.959	8.913	1.6	0.298	0.141	8.464	0.023	0.00449885883462	0.0035	0.00159744	0.0038	0.0008	0.0013	0	0.0029	0.0057	0.0011	0.0022	0.0036675	567	154602	rs143957192	0.0036	0.0037	0.0037	0.0035	0.0041	0.0035	0.0035	0.0040	0.0040	0.0005	0.0011	0.0042	0	0.0031	0.0016	0.0041	0.0031	0.0024	0.0024	0.0024	0.0027	0.0022	0.0042	0.0022	0.0021	0.0038	0.0036	0.0004	0.0033	0.0014	0.0032	0	0.0017	0	0.0042	0.0028	0.0015	0.307	0.14159	T	0.072	0.43344	T	0.029	0.19866	B	0.018	0.18489	B	0.001116	0.40219	N	0.291783	0.999853	0.49910	D	1.545	0.39105	L	.	.	.	-2.13	0.48354	N	0.625	0.63968	-1.0878	0.05908	T	0.032	0.13679	T	9	0.009702206	0.00218	T	0.004499	0.11063	T	0.023	0.04649	0.542	0.65446	0.248417906384	0.24464	0.4433224019779833	0.44250	0.350684773688	0.36916	0.620231509209	0.55762	T	0.008701	0.07968	T	-0.477928	0.00761	T	-0.458471	0.26767	T	0.0214701920260191	0.00851	T	0.720328	0.34608	T	0.12168684	0.28610	0.14405315	0.34213	0.12168684	0.28610	0.14405315	0.34212	-5.765	0.48493	T	.	.	0.258	0.51575	B	.;.	.;.	2.398359	0.30807	18.55	0.97307684879266398	0.33313	0.76731	0.37656	D	AEFBI	0.313158	0.41839	N	-0.70121550073186	0.15988	0.8106155	-0.534924809720609	0.21206	1.146148	0.115943515047811	0.16767	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.58	1.6	0.22686	0.362000	0.20020	-0.216000	0.10808	-0.207000	0.08511	0.998000	0.41325	0.260000	0.23977	0.888000	0.42677	0.0:0.5166:0.0:0.4834	8.464	0.32106	725	0.54935	Reeler domain|Reeler domain|Reeler domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1881.98	35	chr1	99740922	.	C	A	1881.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.400e-01;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.70;ReadPosRankSum=-2.830e-01;SOR=0.725	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1307	20	0	1	0
chr1	99881109	99881109	A	G	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon15:c.A1933G:p.T645A	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	1	1518	3	0	0	3	0.000987167	.	.	516123	not_provided|Glycogen_storage_disease_type_III	MedGen:C3661900|MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.000	D	0.929	N	-1.88	N	-1.69	D	-0.950	T	0.045	T	0.214	-1.943	0.007	4.77	1.042	3.101	5.560	0.222	0.0158302128751	.	.	4.947e-05	0	8.687e-05	0	0	7.497e-05	0	0	7.12e-05	11	154602	rs576969969	5.063e-05	5.062e-05	4.357e-05	5.776e-05	0.0004	4.126e-05	3.779e-05	0.0002	0.0002	0	0.0004	0.0002	0	0	0.0003	2.968e-05	0.0001	0.0001	5.258e-05	5.254e-05	3.855e-05	6.726e-05	0.0002	2.558e-05	1.83e-05	5.287e-05	2.835e-05	0	0	0.0002	0.0003	0	0	0	4.41e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.04355	B	0.000001	0.62929	D	0.098546	0.928607	0.27116	N	-2.735	0.00029	N	-1.69	0.82985	D	3.15	0.00121	N	0.406	0.44952	-0.9495	0.41058	T	0.045	0.19437	T	10	0.06758392	0.09438	T	0.01583	0.36777	T	0.222	0.51872	0.602	0.73346	0.717622369731	0.71514	0.41927865779125334	0.41843	0.0405049159976	0.04339	0.355544745922	0.18736	T	0.085475	0.37509	T	-0.298889	0.08764	T	-0.350954	0.39097	T	0.0457085811075749	0.04731	T	0.80112	0.46793	T	0.05034634	0.09082	0.05491873	0.09536	0.05034634	0.09081	0.05491873	0.09536	2.418	0.00035	T	0.06861885834221801	0.02506	0.056	0.00470	B	.;.;.;.;.	.;.;.;.;.	1.372198	0.17825	13.39	0.13762743206219819	0.00282	0.52448	0.29134	D	AEFBI	0.065726	0.12835	N	-0.838138258941096	0.12343	0.6010989	-0.569308984161782	0.20295	1.092799	4.63100418470655E-4	0.07066	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.655142	0.61905	0	.	.	5.9	4.77	0.60425	4.555000	0.60477	4.634000	0.44128	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	0.220000	0.22462	0.7363:0.0:0.1366:0.1271	5.560	0.16421	856	0.34373	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1134.98	36	chr1	99881109	.	A	G	1134.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.666;DP=769;ExcessHet=0.0000;FS=0.930;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.55;ReadPosRankSum=0.854;SOR=0.569	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr1	99884396	99884396	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2491C:p.Y831H	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	1488844	Glycogen_storage_disease_type_III	MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.52	T	0.913	P	0.503	P	0.002	N	0.999	D	1.525	L	1.57	T	-1.113	T	0.049	T	0.261	3.205	16.73	5.8	2.216	7.642	16.134	0.081	0.00911862377621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.401e-06	7.43e-05	1.397e-06	1.405e-06	1.848e-06	2.3e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.848e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.473	0.12142	T	0.517	0.50474	P	0.109	0.47728	B	0.002293	0.36846	N	0.305907	0.99907	0.46009	D	2.045	0.56016	M	1.57	0.29342	T	-0.65	0.18877	N	0.272	0.33250	-1.1132	0.02809	T	0.049	0.20711	T	10	0.27782464	0.45351	T	0.009119	0.23988	T	0.081	0.23632	0.336	0.32491	0.479744053436	0.47606	0.606268470227836	0.60557	0.11555191635	0.13036	0.707347929478	0.68209	T	0.099441	0.40426	T	-0.125642	0.32204	T	-0.418252	0.31276	T	0.677078485488892	0.39656	D	0.937306	0.76420	D	0.20774648	0.42990	0.14135508	0.33665	0.20774648	0.42990	0.14135508	0.33664	-6.617	0.51183	T	0.20745740101029875	0.27728	0.195	0.49038	B	.;.;.;.;.	.;.;.;.;.	3.365396	0.46485	22.3	0.99621718597315734	0.75473	0.99680	0.98609	D	AEBI	0.860591	0.77848	D	0.379094507883598	0.60291	4.216405	0.481746564574198	0.66782	4.996979	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	7.619000	0.82253	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.4048	7236.94	34	chr1	99884396	.	T	C	7236.94	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-4.178e+00;DP=2325;ExcessHet=25.1139;FS=198.804;InbreedingCoeff=-0.6802;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=3.71;ReadPosRankSum=1.56;SOR=12.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,39:129:99:0|1:99884396_T_C:845,0,2078:99884396	4	0	17	0
chr1	99884400	99884400	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2495C:p.I832T	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.043	B	0.045	B	0.000	D	0.997	D	0	N	1.65	T	-1.054	T	0.016	T	0.371	2.784	15.27	5.8	2.216	5.903	16.134	0.153	0.0122640309764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	6.716e-05	1.374e-06	1.386e-06	9.081e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.081e-07	1.668e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.026	0.56640	D	0.0	0.21573	B	0.001	0.24526	B	0.000055	0.53742	D	0.164392	0.996604	0.43303	D	0.75	0.19020	N	1.65	0.27650	T	-0.36	0.13035	N	0.436	0.50327	-1.0535	0.13440	T	0.016	0.06711	T	10	0.188252	0.34372	T	0.012264	0.30673	T	0.153	0.40148	0.481	0.56142	0.347438807231	0.34349	0.6957915828848406	0.69520	0.0479730424621	0.05229	0.57926928997	0.49983	T	0.024605	0.18561	T	-0.114689	0.33995	T	-0.402519	0.33091	T	0.689807772636414	0.40239	D	0.921208	0.71446	D	0.15030582	0.34224	0.15235546	0.35850	0.15030582	0.34224	0.15235546	0.35849	-7.468	0.57385	T	0.12742211284755814	0.13043	0.196	0.46493	B	.;.;.;.;.	.;.;.;.;.	3.585879	0.50577	23.0	0.98956683015017666	0.49246	0.98949	0.89045	D	AEFBI	0.617707	0.60379	D	-0.259290584713923	0.30734	1.716485	0.0117534508968653	0.40260	2.399848	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	5.882000	0.69458	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.3571	4473.53	34	chr1	99884400	.	T	C	4473.53	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-3.868e+00;DP=2293;ExcessHet=17.4423;FS=183.125;InbreedingCoeff=-0.5526;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=2.55;ReadPosRankSum=1.66;SOR=12.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,34:132:99:0|1:99884396_T_C:497,0,3728:99884396	6	0	15	0
chr1	99884427	99884427	C	T	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.C2522T:p.S841F	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	YES	4	1493	24	1	0	26	0.00863214	.	.	250055	AGL-related_disorder|Inborn_genetic_diseases|not_specified|Glycogen_storage_disease_type_III|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.377	B	0.269	B	0.000	D	1.000	D	0.805	L	1.48	T	-1.080	T	0.049	T	0.279	3.554	18.12	5.8	2.745	5.609	20.043	0.084	0.0353063885639	0.0025	0.00199681	0.0029	0.0003	0.0015	0.0001	0.0002	0.0040	0.0056	0.0031	0.0025679	397	154602	rs150441555	0.0020	0.0020	0.0019	0.0022	0.0186	0.0020	0.0019	0.0157	0.0147	0.0012	0.0020	0.0150	2.524e-05	0.0003	0.0186	0.0016	0.0036	0.0033	0.0023	0.0023	0.0024	0.0021	0.0036	0.0021	0.0020	0.0028	0.0026	0.0003	0	0.0036	0.0141	0	0.0004	0.0340	0.0027	0.0066	0.0035	0.031	0.46513	D	0.051	0.50809	T	0.26	0.34270	B	0.139	0.39840	B	0.000001	0.62929	D	0.098941	0.999891	0.50595	D	1.15	0.29295	L	1.48	0.31731	T	-2.21	0.49684	N	0.276	0.33578	-1.0804	0.07272	T	0.049	0.20750	T	10	0.010740131	0.00238	T	0.035306	0.56258	D	0.084	0.24469	.	.	0.528160237705	0.52464	0.6871515394653197	0.68655	0.0596318990953	0.06628	0.462177336216	0.33609	T	0.10719	0.41917	T	-0.449639	0.01135	T	-0.422017	0.30845	T	0.0303424716408463	0.02043	T	0.974503	0.90930	D	0.46422943	0.64934	0.5469604	0.73811	0.5126768	0.67836	0.5123905	0.71824	-7.352	0.57674	T	0.30378784481655136	0.40131	0.209	0.50287	B	.;.;.;.;.	.;.;.;.;.	4.064347	0.60343	24.2	0.99640421921869393	0.76633	0.99209	0.92840	D	AEFBI	0.640365	0.61808	D	0.242698005705764	0.53278	3.497486	0.408699092796405	0.62105	4.420588	0.999999840276989	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	5.685000	0.67865	7.618000	0.62188	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.043	0.97596	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1981.98	45	chr1	99884427	.	C	T	1981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.680e-01;DP=964;ExcessHet=0.0000;FS=0.602;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.13;ReadPosRankSum=-8.400e-01;SOR=0.609	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr1	100107719	100107723	TGATA	-	splicing	SASS6	.	.	.	.	.	635	880	7	0	0	7	0.00396152	.	.	1859379	Microcephaly_14,_primary,_autosomal_recessive|Inborn_genetic_diseases	MONDO:MONDO:0014623,MedGen:C4225338,OMIM:616402,Orphanet:2512|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	8.848e-05	0	0	0.0002	0.0023	0.0015	0.0002587	40	154602	rs776645730	0.0002	0.0002	0.0001	0.0002	0.0021	0.0002	0.0002	0.0014	0.0013	0	0.0001	0.0002	0	0	0.0021	6.582e-05	0.0004	0.0017	0.0001	0.0001	5.144e-05	0.0002	0.0019	7.091e-05	5.747e-05	0.0010	0.0007	0	0	0	0	0	0	0	0.0001	0.0005	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1083.94	36	chr1	100107718	.	CTGATA	C	1083.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.910;DP=788;ExcessHet=0.0000;FS=1.872;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=-4.800e-02;SOR=0.711	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1043	20	0	1	0
chr1	100216031	100216031	A	G	exonic	DBT	.	nonsynonymous SNV	DBT:NM_001918:exon6:c.T724C:p.S242P,	Maple syrup urine disease, type II, Autosomal recessive	YES	0	1500	20	2	0	24	0.00793651	.	.	99913	not_provided|not_specified|Maple_syrup_urine_disease|Maple_syrup_urine_disease_type_1A	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511|MONDO:MONDO:0023691,MedGen:C1855369,OMIM:248600	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.38	T	0.001	B	0.003	B	0.233	N	1.000	N	0.55	N	1.5	T	-0.948	T	0.015	T	0.064	0.969	8.956	0.236	-0.140	1.370	8.600	0.026	.	0.0072	0.00339457	0.0096	0.0012	0.0039	0.0001	0.0085	0.0148	0.0154	0.0028	0.0092302	1427	154602	rs146249007	0.0096	0.0096	0.0095	0.0097	0.0110	0.0094	0.0094	0.0108	0.0108	0.0013	0.0051	0.0078	5.041e-05	0.0089	0.0087	0.0110	0.0087	0.0030	0.0084	0.0084	0.0088	0.0081	0.0134	0.0080	0.0079	0.0126	0.0123	0.0018	0	0.0100	0.0075	0	0.0080	0.0034	0.0134	0.0099	0.0023	0.327	0.16466	T	0.261	0.22962	T	.	.	.	.	.	.	0.233402	0.15869	N	0.655427	0.999999	0.08975	N	.	.	.	1.5	0.31987	T	0.0	0.08495	N	0.252	0.28498	-0.9484	0.41245	T	0.015	0.05994	T	10	0.0040974617	0.00080	T	.	.	.	0.026	0.05648	.	.	0.18274738541	0.17906	0.5375995511524111	0.53684	0.534135777531	0.50832	0.360091269016	0.19399	T	.	.	.	-0.632211	0.00093	T	-0.664648	0.07957	T	0.000309917408977404	0.00003	T	0.59724	0.22223	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.01011	B	.;.	.;.	0.930296	0.13055	9.559	0.84317567664795934	0.15221	0.34859	0.25166	N	AEFDBI	0.088245	0.17890	N	-1.03815179980117	0.07821	0.3646864	-0.990087816733431	0.10007	0.5013103	0.00160025830155342	0.08681	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.66	0.236	0.14733	0.899000	0.28049	3.854000	0.40103	-0.103000	0.15852	0.456000	0.26612	0.999000	0.35428	0.019000	0.11356	0.3275:0.4528:0.0:0.2197	8.600	0.32902	527	0.73864	.;.	SASS6|AGL|SASS6	Skin_Sun_Exposed_Lower_leg|Testis|Thyroid	SLC35A3|SLC35A3|SASS6|SLC35A3|SLC35A3|SLC35A3|SLC35A3	Adipose_Subcutaneous|Artery_Tibial|Cells_Cultured_fibroblasts|Colon_Transverse|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg	rs146249007	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	767.98	33	chr1	100216031	.	A	G	767.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.933e+00;DP=754;ExcessHet=0.0000;FS=3.913;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=0.611;SOR=0.309	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1290	20	0	1	0
chr1	100270579	100270579	G	A	exonic	RTCA	.	nonsynonymous SNV	RTCA:NM_003729:exon4:c.G313A:p.V105I	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.018	B	0.088	B	0.000	D	1.000	D	0.62	N	.	.	-1.052	T	0.074	T	0.388	3.183	16.65	4.93	1.483	7.493	14.915	0.147	0.00263989043764	7.7e-05	0.000199681	0.0003	9.61e-05	0	0	0	5.995e-05	0.0011	0.0019	0.0002458	38	154602	rs138079620	0.0002	0.0002	9.257e-05	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	0	0	0.0008	0	0	0.0002	1.529e-05	9.936e-05	0.0022	7.882e-05	7.875e-05	6.427e-05	9.402e-05	0.0019	4.495e-05	3.511e-05	0.0010	0.0007	0	0	6.543e-05	0.0006	0	0	0	0	0	0.0019	0.344	0.15149	T	0.493	0.12526	T	0.018	0.17786	B	0.088	0.29688	B	0.000025	0.55875	D	0.118754	0.999999	0.58761	D	1.06	0.26948	L	.	.	.	-0.5	0.15782	N	0.32	0.36043	-1.0524	0.13736	T	0.074	0.29992	T	9	0.021551192	0.00518	T	0.00264	0.05377	T	0.147	0.38986	.	.	0.282575091529	0.27877	0.6310646775086756	0.63040	0.0955349259462	0.10794	0.469153046608	0.34564	T	0.067258	0.33155	T	-0.318763	0.06998	T	-0.236824	0.51108	T	0.138259113334099	0.16124	T	0.89891	0.64583	D	0.06624076	0.14235	0.07087361	0.15110	0.06624076	0.14235	0.07087361	0.15110	-6.166	0.47647	T	.	.	0.113	0.26700	B	.;.	.;.	3.577839	0.50425	22.9	0.98718704023819392	0.45171	0.98532	0.83788	D	AEFBI	0.825962	0.74554	D	-0.23003120907344	0.31907	1.793907	-0.0137857400439682	0.39090	2.312615	0.999999995678541	0.74766	0.706548	0.73137	0	0.581341	0.33841	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.83	4.93	0.64394	7.611000	0.82163	11.722000	0.94835	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0684:0.0:0.9316:0.0	14.915	0.70434	583	0.69484	RNA 3'-terminal phosphate cyclase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1143.98	34	chr1	100270579	.	G	A	1143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.00;DP=785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=-1.263e+00;SOR=0.782	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1162	20	0	1	0
chr1	100273406	100273406	A	G	exonic	RTCA	.	nonsynonymous SNV	RTCA:NM_003729:exon5:c.A427G:p.I143V	.	.	614	905	1	2	0	5	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.008	B	0.034	B	0.000	D	1.000	D	0.875	L	.	.	-1.042	T	0.071	T	0.367	2.141	13.12	5.61	2.147	5.419	14.390	0.093	0.00157397743222	.	0.000998403	0.0016	0	0.0004	0	0	0	0	0.0088	0.0007891	122	154602	rs552473755	0.0005	0.0005	0.0003	0.0007	0.0077	0.0004	0.0004	0.0072	0.0070	6.125e-05	9.769e-05	0	0	0	0	9.138e-06	0.0004	0.0077	0.0002	0.0002	7.709e-05	0.0004	0.0062	0.0002	0.0001	0.0045	0.0039	0	0	6.533e-05	0	0.0002	0	0	0	0.0005	0.0062	0.388	0.10909	T	0.738	0.05398	T	0.008	0.14655	B	0.034	0.22546	B	0.000000	0.84330	D	0.049052	0.999923	0.51308	D	1.325	0.33218	L	.	.	.	-0.48	0.15379	N	0.227	0.28264	-1.0422	0.16651	T	0.071	0.28871	T	9	0.009076536	0.00205	T	0.001574	0.02497	T	0.093	0.26882	0.625	0.76028	0.391156786388	0.38726	0.5664821063447204	0.56576	0.0949024375679	0.10718	0.39328867197	0.24133	T	0.066978	0.33082	T	-0.341719	0.05270	T	-0.260604	0.48763	T	0.0559138750148721	0.06509	T	0.867613	0.56877	D	0.09175174	0.21506	0.10788917	0.25981	0.09175174	0.21506	0.10788917	0.25981	-6.608	0.51115	T	.	.	0.062	0.01348	B	.;.	.;.	2.641138	0.34369	19.61	0.98344261162367064	0.40477	0.99130	0.91667	D	AEFBI	0.530971	0.55144	D	-0.0959055232880825	0.37572	2.18781	0.122047557469641	0.45678	2.826784	0.999997573802851	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.61	5.61	0.85347	5.342000	0.65740	6.942000	0.56995	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.390	0.66542	583	0.69484	RNA 3'-terminal phosphate cyclase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1257.98	33	chr1	100273406	.	A	G	1257.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.757e+00;DP=786;ExcessHet=0.0000;FS=1.585;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.10;ReadPosRankSum=-1.018e+00;SOR=0.499	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1152	20	0	1	0
chr1	100484348	100484348	G	A	exonic	CDC14A	.	nonsynonymous SNV	CDC14A:NM_001319212:exon10:c.G155A:p.R52Q	Deafness, autosomal recessive 105, Autosomal recessive	YES	438	1058	26	0	0	26	0.0121382	.	.	655019	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.064	B	0.011	B	0.013	N	1.000	D	0.52	N	3.18	T	-1.008	T	0.006	T	0.336	0.577	7.114	5.77	2.729	2.551	10.909	0.067	.	0.0010	0.00279553	0.0024	0.0002	0.0004	0	0.0002	0.0019	0.0034	0.0089	0.0020828	322	154602	rs28364897	0.0014	0.0015	0.0012	0.0017	0.0112	0.0014	0.0014	0.0090	0.0082	0.0003	0.0005	0.0178	7.699e-05	7.535e-05	0.0112	0.0006	0.0032	0.0079	0.0013	0.0013	0.0013	0.0012	0.0079	0.0011	0.0011	0.0059	0.0052	9.638e-05	0	0.0003	0.0199	0	9.463e-05	0.0034	0.0010	0.0024	0.0079	0.588	0.05844	T	0.764	0.11691	T	0.007	0.14655	B	0.011	0.15521	B	0.012910	0.29014	N	0.417620	0.799534	0.81001	D	0.495	0.13372	N	2.99	0.09262	T	0.31	0.04022	N	0.086	0.06322	-1.0075	0.27696	T	0.006	0.02093	T	10	0.0040360093	0.00078	T	.	.	.	0.067	0.19503	.	.	0.610390267789	0.60725	0.3191335331216652	0.31826	0.172812368073	0.19455	0.393316864967	0.24136	T	0.012179	0.10748	T	-0.514471	0.00473	T	-0.507354	0.21588	T	0.0158800411563387	0.00374	T	0.929307	0.73951	D	0.0688873	0.15046	0.04700738	0.06676	0.07052366	0.15541	0.05272089	0.08742	-6.47	0.52410	T	0.08458565177691202	0.04682	0.089	0.11989	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.299508	0.45283	22.1	0.81189413631035934	0.13563	0.84773	0.43862	D	AEFBI	0.221071	0.34575	N	-0.281820392719237	0.29850	1.659077	-0.0366804278245337	0.38073	2.237921	0.988745731712769	0.31614	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	2.919000	0.48534	6.661000	0.56247	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.743000	0.35541	0.0851:0.0:0.9148:0.0	10.909	0.46307	248	0.90287	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.07143	3486.68	44	chr1	100484348	.	G	A	3486.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.06;DP=975;ExcessHet=0.3300;FS=1.991;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=0.214;SOR=0.820	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1382	18	0	3	0
chr1	100724743	100724743	A	C	exonic	VCAM1	.	nonsynonymous SNV	VCAM1:NM_001078:exon4:c.A781C:p.K261Q	.	.	.	.	.	.	.	.	.	.	.	2756241	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	1.0	D	0.999	D	0.024	N	0.767	N	0.19	N	2.72	T	-1.024	T	0.024	T	0.455	1.817	12.04	5.38	2.174	1.727	12.068	0.082	0.00976115925942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	0	2.752e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.29959	T	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.024166	0.26309	N	0.465669	0.767194	0.29476	N	-0.715	0.01801	N	2.72	0.11947	T	-1.18	0.32185	N	0.266	0.30118	-1.0242	0.22344	T	0.024	0.10329	T	10	0.19423825	0.35226	T	0.009761	0.25472	T	0.082	0.23913	0.487	0.57098	0.618929047576	0.61584	0.421805601302167	0.42097	0.69741224872	0.60903	0.448212206364	0.31700	T	0.087844	0.38030	T	-0.161891	0.26468	T	-0.470322	0.25481	T	0.748604893684387	0.43208	D	0.651335	0.30130	T	0.14842004	0.33885	0.096549205	0.22945	0.14842004	0.33884	0.096549205	0.22945	-1.404	0.02345	T	.	.	0.132	0.28406	B	.;.;.;.	.;.;.;.	3.130573	0.42301	21.5	0.97329705176352166	0.33418	0.66700	0.33170	D	AEFBI	0.373265	0.45860	N	0.249802363934092	0.53628	3.530942	0.330561298587937	0.57343	3.899694	0.99953422609167	0.40238	0.638212	0.43195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.38	5.38	0.77279	1.681000	0.37234	2.257000	0.31732	0.752000	0.88150	0.991000	0.37257	0.904000	0.28019	0.996000	0.76049	1.0:0.0:0.0:0.0	12.068	0.52897	427	0.81056	.;.;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1872.98	38	chr1	100724743	.	A	C	1872.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.422;DP=850;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.28;ReadPosRankSum=-1.396e+00;SOR=0.712	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1142	20	0	1	0
chr1	100731239	100731239	G	A	exonic	VCAM1	.	nonsynonymous SNV	VCAM1:NM_080682:exon5:c.G970A:p.V324M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.985	D	0.633	P	0.000	D	0.928	N	2.14	M	3.92	T	-0.476	T	0.407	T	0.407	3.025	16.09	4.54	2.873	0.813	13.008	0.131	0.104907602217	.	.	1.654e-05	0	8.758e-05	0	0	1.503e-05	0	0	1.29e-05	2	154602	rs775090221	7.53e-06	7.524e-06	6.81e-06	8.257e-06	6.727e-05	4.04e-06	2.95e-06	1.784e-05	8.94e-06	0	6.727e-05	0	0	0	0	3.599e-06	3.313e-05	2.323e-05	4.602e-05	4.597e-05	5.141e-05	4.038e-05	0.0001	2.11e-05	1.528e-05	4.766e-05	3.34e-05	0	0	0	0	0	0	0	0.0001	0	0	0.026	0.46910	D	0.009	0.74150	D	0.968	0.61118	D	0.633	0.51840	P	0.000114	0.50451	D	0.137089	0.99988	0.27141	N	2.825	0.82220	M	3.92	0.80899	T	-1.47	0.38734	N	0.369	0.41261	-0.4759	0.69516	T	0.407	0.75670	T	10	0.28963986	0.46545	T	0.104908	0.77974	D	0.131	0.35738	0.481	0.56142	0.665286840608	0.66247	0.2991764398091632	0.29830	0.591342767724	0.54574	0.370036572218	0.20837	T	0.186006	0.53916	T	-0.236875	0.15749	T	-0.20458	0.54212	T	0.768955647945404	0.44376	D	0.675032	0.28342	T	0.052990563	0.09962	0.072262436	0.15571	0.052990563	0.09962	0.072262436	0.15570	-5.378	0.40707	T	.	.	0.134	0.32804	B	.;.;.	.;.;.	2.858580	0.37761	20.6	0.99608209242325407	0.74634	0.20198	0.20951	N	AEFBCI	0.170142	0.29703	N	-0.00743358896577985	0.41518	2.484821	-0.143130257310191	0.33673	1.92867	0.506136719316813	0.20982	0.638212	0.43195	0	0.633656	0.55848	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.52	4.54	0.55220	1.397000	0.34152	4.495000	0.43587	-0.680000	0.04236	0.024000	0.20007	1.000000	0.68203	0.000000	0.00833	0.0844:0.0:0.9156:0.0	13.008	0.58120	427	0.81056	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	619.98	33	chr1	100731239	.	G	A	619.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.21;DP=735;ExcessHet=0.0000;FS=2.697;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=-1.660e-01;SOR=1.179	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1376	20	0	1	0
chr1	100874421	100874421	C	T	exonic	EXTL2	.	nonsynonymous SNV	EXTL2:NM_001033025:exon5:c.G514A:p.D172N	.	.	437	1071	14	0	0	14	0.00649351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.984	D	0.835	P	0.000	D	1.000	D	2.26	M	-1.23	T	0.118	D	0.558	D	0.111	5.153	32	5.97	2.837	5.745	20.428	0.560	0.0740901653615	0.0003	0.000998403	0.0011	0	0.0008	0	0	0.0010	0.0023	0.0035	0.001009	156	154602	rs184097400	0.0007	0.0007	0.0005	0.0008	0.0125	0.0006	0.0006	0.0101	0.0092	0.0005	0.0017	0.0028	2.549e-05	5.691e-05	0.0125	0.0003	0.0016	0.0033	0.0009	0.0009	0.0008	0.0011	0.0044	0.0008	0.0008	0.0036	0.0032	0.0001	0	0.0044	0.0038	0	0	0.0034	0.0005	0.0024	0.0037	0.073	0.34800	T	0.039	0.51112	D	0.947	0.53479	P	0.755	0.56206	P	0.000003	0.62929	D	0.134734	1	0.81001	D	.	.	.	-1.23	0.78860	T	-4.24	0.76822	D	0.158	0.16447	0.118	0.84505	D	0.558	0.83868	D	10	0.04003334	0.02539	T	0.07409	0.71954	D	0.560	0.81946	.	.	0.90030062965	0.89930	0.5283023126551979	0.52754	0.602039044817	0.55232	0.569732666016	0.48640	T	0.670648	0.90220	D	-0.388842	0.02737	T	-0.334686	0.40946	T	0.091525709936778	0.11397	T	0.927007	0.73102	D	0.24787085	0.47768	0.39620832	0.64268	0.24787085	0.47768	0.39620832	0.64268	-4.187	0.26563	T	.	.	0.094	0.16451	B	.;.;.	.;.;.	4.972261	0.82291	27.8	0.99921826082786769	0.98787	0.97916	0.78101	D	AEFGBI	0.729770	0.67737	D	0.78205733564572	0.84970	8.439354	0.794132623236879	0.89382	9.952048	0.999999999998575	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.97	5.97	0.96935	5.820000	0.68932	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.428	0.99077	620	0.66037	Exostosin , C-terminal;Exostosin , C-terminal;Exostosin , C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	806.98	33	chr1	100874421	.	C	T	806.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.670e-01;DP=750;ExcessHet=0.0000;FS=2.742;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.47;ReadPosRankSum=0.565;SOR=1.245	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1232	20	0	1	0
chr1	100877750	100877750	C	G	exonic	EXTL2	.	nonsynonymous SNV	EXTL2:NM_001033025:exon3:c.G159C:p.R53S	.	.	432	1085	5	0	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.976	D	0.541	P	0.000	D	1.000	D	1.04	L	0.57	T	-0.630	T	0.262	T	0.81	2.437	14.11	2.74	0.410	0.331	6.168	0.539	0.115086418452	.	.	3.307e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs753326651	1.163e-05	1.163e-05	4.086e-06	1.926e-05	0.0002	7.09e-06	5.79e-06	0.0001	0.0001	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.56456	T	0.0	0.92824	D	0.976	0.58310	D	0.541	0.48869	P	0.000000	0.84330	D	0.040721	1	0.81001	D	2.175	0.60977	M	-1.71	0.83157	D	-0.9	0.37375	N	0.775	0.80180	-0.6300	0.63571	T	0.262	0.63264	T	10	0.30724275	0.48228	T	0.115086	0.79415	D	0.539	0.80723	0.377	0.39156	0.911176253122	0.91028	0.6265749759977755	0.62590	0.629891857601	0.57002	0.450323045254	0.31988	T	0.103402	0.50500	T	0.0243936	0.54972	T	0.071563	0.75014	D	0.25772624040479	0.23215	T	0.923708	0.72135	D	0.18520439	0.39872	0.096571505	0.22951	0.18520439	0.39872	0.096571505	0.22950	-3.076	0.11022	T	.	.	0.698	0.74405	P	.;.;.;.;.	.;.;.;.;.	3.226129	0.43974	21.8	0.99327390622583178	0.59622	0.85468	0.44603	D	AEFBI	0.454181	0.50700	N	-0.15422307771413	0.35055	2.008738	-0.170000328064226	0.32646	1.859418	0.0097745839575	0.11911	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.61	2.74	0.31352	0.238000	0.17782	0.553000	0.19438	-0.202000	0.08738	0.989000	0.36753	0.997000	0.33255	0.585000	0.31016	0.1304:0.6651:0.0:0.2045	6.168	0.19615	618	0.66225	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1704.98	44	chr1	100877750	.	C	G	1704.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.189;DP=888;ExcessHet=0.0000;FS=0.567;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.91;ReadPosRankSum=-1.470e+00;SOR=0.770	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1474	20	0	1	0
chr1	102962726	102962726	C	T	exonic	COL11A1	.	nonsynonymous SNV	COL11A1:NM_080630:exon37:c.G2603A:p.R868H	Fibrochondrogenesis 1, Autosomal recessive;Marshall syndrome, Autosomal dominant;Stickler syndrome, type II, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	1685765	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.996	D	0.000	D	1.000	D	2.625	M	-3.2	D	0.964	D	0.898	D	0.646	4.612	25.2	5.67	2.673	7.719	19.774	0.784	0.194993669092	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs147271219	9.577e-06	1.026e-05	5.445e-06	1.375e-05	5.974e-05	5.56e-06	4.35e-06	9.89e-06	3.7e-06	5.974e-05	4.472e-05	0	2.52e-05	0	0	5.396e-06	1.656e-05	2.319e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.004	0.65419	D	0.004	0.76473	D	0.999	0.90584	D	0.987	0.84481	D	0.000025	0.55875	D	0.115539	1	0.81001	D	1.935	0.51832	L	-3.21	0.93291	D	-4.26	0.77717	D	0.678	0.68863	0.964	0.96607	D	0.898	0.96615	D	10	0.82129383	0.81332	D	0.194994	0.86395	D	0.784	0.92827	.	.	0.902852253755	0.90188	0.21720161673046282	0.21636	0.146495811487	0.16535	0.833496212959	0.87099	D	0.73706	0.92686	D	0.130433	0.67403	D	0.125428	0.78593	D	0.879288375377655	0.52924	D	0.962304	0.85970	D	0.23872258	0.46753	0.21319602	0.45820	0.23872258	0.46753	0.21319602	0.45819	-11.349	0.82683	D	0.5946651012557155	0.66151	0.878	0.81325	P	.;.;.;.	.;.;.;.	5.017901	0.83372	28.0	0.9983409457044724	0.91542	0.98306	0.81462	D	AEFBI	0.942072	0.94616	D	0.893827443479501	0.91453	10.89179	0.864990643022795	0.93860	12.33182	0.999999693137499	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.67	5.67	0.87673	7.818000	0.84740	7.680000	0.65243	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.774	0.96381	870	0.31527	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1348.98	33	chr1	102962726	.	C	T	1348.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.113;DP=775;ExcessHet=0.0000;FS=1.831;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.16;ReadPosRankSum=-7.830e-01;SOR=0.481	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1147	20	0	1	0
chr1	102987714	102987714	T	A	exonic	COL11A1	.	nonsynonymous SNV	COL11A1:NM_080630:exon28:c.A2073T:p.R691S	Fibrochondrogenesis 1, Autosomal recessive;Marshall syndrome, Autosomal dominant;Stickler syndrome, type II, Autosomal dominant	.	1	1505	14	2	0	18	0.00594452	.	.	1192668	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.989	D	0.985	D	0.000	D	1.000	D	0.455	N	-3.24	D	0.284	D	0.655	D	0.753	2.933	15.77	2.07	0.320	0.400	7.835	0.334	0.25784655461	7.7e-05	.	0.0002	0	0.0003	0	0	0.0001	0.0011	0.0012	0.000207	32	154602	rs367824632	0.0001	0.0001	9.804e-05	0.0002	0.0021	0.0001	0.0001	0.0012	0.0010	0	0.0001	0	0	0	0.0021	4.677e-05	0.0004	0.0012	9.856e-05	9.843e-05	3.856e-05	0.0002	0.0010	6.007e-05	4.88e-05	0.0004	0.0003	0	0	0.0003	0	0	0	0.0068	4.412e-05	0	0.0010	0.018	0.54683	D	0.048	0.49120	D	0.981	0.62824	D	0.966	0.76457	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.55	0.39271	L	-3.38	0.94161	D	-5.29	0.85247	D	0.729	0.73015	0.284	0.87307	D	0.655	0.87989	D	10	0.47946686	0.60343	T	0.257847	0.89385	D	0.701	0.89238	0.362	0.36711	0.953937375394	0.95344	0.6228879467726383	0.62221	0.132844441926	0.14965	0.650581121445	0.60068	T	0.77664	0.94066	D	-0.0362331	0.46506	T	0.134644	0.79196	D	0.238656729757201	0.22357	T	0.884712	0.62852	D	0.7395772	0.80268	0.5487358	0.73910	0.7395772	0.80269	0.5487358	0.73911	-11.089	0.82507	D	0.4499784665851495	0.53396	0.880	0.81464	P	.;.;.;.	.;.;.;.	3.853628	0.55844	23.7	0.99699287724562247	0.80522	0.76850	0.37725	D	AEFI	0.238912	0.36095	N	0.040174624420964	0.43691	2.657167	-0.00748090400738627	0.39375	2.333729	1.4249757725328E-5	0.02871	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	4.4	2.07	0.26004	0.127000	0.15617	2.289000	0.31947	0.609000	0.47794	0.988000	0.36536	1.000000	0.68203	0.976000	0.56436	0.0:0.2124:0.0:0.7876	7.835	0.28525	855	0.34697	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1508.98	36	chr1	102987714	.	T	A	1508.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.220e+00;DP=821;ExcessHet=0.0000;FS=2.415;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=1.26;SOR=0.997	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr1	103026268	103026268	T	C	exonic	COL11A1	.	nonsynonymous SNV	COL11A1:NM_001854:exon6:c.A845G:p.E282G	Fibrochondrogenesis 1, Autosomal recessive;Marshall syndrome, Autosomal dominant;Stickler syndrome, type II, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	275734	Inborn_genetic_diseases|Stickler_syndrome_type_2|Fibrochondrogenesis_1|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841,Orphanet:828,Orphanet:90654|MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520,Orphanet:2021|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.37	T	0.319	B	0.055	B	.	.	1.000	D	2.135	M	-2.42	D	-0.116	T	0.485	T	0.282	2.820	15.39	5.39	2.046	2.917	15.409	0.304	0.0616479675708	0.0004	0.000199681	0.0003	0	0	0	0	0.0004	0.0011	6.056e-05	0.0002135	33	154602	rs199539580	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	9.792e-05	7.838e-05	2.987e-05	0	0.0041	0	0	0.0002	4.677e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	8.712e-05	4.766e-05	3.339e-05	4.81e-05	0	0	0.0035	0	0	0	0.0001	0.0005	0.0002	0.249	0.17183	T	0.437	0.23298	T	0.319	0.32965	B	0.055	0.25995	B	.	.	.	.	0.99986	0.81001	D	1.735	0.44892	L	-2.42	0.88767	D	-0.44	0.14588	N	0.216	0.30461	-0.1157	0.79735	T	0.485	0.80390	T	9	0.010509074	0.00233	T	0.061648	0.68398	D	0.304	0.62510	.	.	0.388425449554	0.38455	0.3259171171562219	0.32504	0.16140204247	0.18220	0.362784087658	0.19791	T	0.143889	0.48023	T	-0.135358	0.30633	T	-0.206507	0.54029	T	0.0220699496694212	0.00917	T	0.666933	0.28956	T	0.13285843	0.30922	0.15250972	0.35878	0.10596972	0.25056	0.17495535	0.39926	-5.534	0.44373	T	.	.	0.085	0.12797	B	.;.;.;.;.;.	.;.;.;.;.;.	2.779384	0.36502	20.3	0.9952905667556089	0.69777	0.88150	0.47952	D	AEFDBI	0.433559	0.49497	N	0.0815132748306517	0.45600	2.81391	0.205359769616328	0.50146	3.209598	0.998093827706674	0.36419	0.643511	0.44296	0	0.573888	0.26702	0	0.688494	0.62686	0	0.564101	0.26826	0	.	.	5.39	5.39	0.77615	2.912000	0.48479	3.484000	0.38668	0.654000	0.53741	0.998000	0.41325	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.409	0.74625	824	0.40336	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	2023.98	38	chr1	103026268	.	T	C	2023.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.880;DP=890;ExcessHet=0.0000;FS=0.551;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=0.084;SOR=0.639	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr1	103533845	103533845	-	A	exonic	RNPC3	.	frameshift insertion	RNPC3:NM_017619:exon3:c.347dupA:p.R120Kfs*3,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	229.63	54	chr1	103533844	.	GA	G,GAA	229.63	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=-4.500e-01;DP=1214;ExcessHet=1.1607;FS=2.736;InbreedingCoeff=-0.1291;MLEAC=3,1;MLEAF=0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=0.93;ReadPosRankSum=-4.790e-01;SOR=0.413	GT:AD:DP:GQ:PL	0/0:48,0,0:48:99:0,120,1800,120,1800,1800	16	0	4	0
chr1	103660401	103660401	C	T	exonic	AMY1A;AMY1B;AMY1C	.	nonsynonymous SNV	AMY1B:NM_001008218:exon7:c.C920T:p.A307V	.	.	542	971	8	1	0	10	0.00512295	.	.	731511	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.988	D	0.000	D	1.000	D	.	.	-4.94	D	1.063	D	0.944	D	0.683	2.641	14.79	2.38	1.150	5.481	9.722	0.800	0.25198195432	0.0025	.	0.0034	0.0014	0.0004	0.0002	0.0010	0.0052	0	0.0032	0.0019728	305	154602	rs201288184	0.0051	0.0053	0.0051	0.0052	0.0063	0.0050	0.0050	0.0061	0.0061	0.0010	0.0003	0.0023	0.0002	0.0007	0.0030	0.0063	0.0030	0.0026	0.0025	0.0032	0.0029	0.0021	0.0045	0.0023	0.0022	0.0040	0.0038	0.0009	0	0.0006	0.0008	0.0007	0.0003	0.0043	0.0045	0.0007	0.0010	0.078	0.33923	T	0.065	0.44702	T	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	.	.	.	-4.94	0.98409	D	-3.27	0.65512	D	0.957	0.96644	1.063	0.98415	D	0.944	0.98180	D	9	0.17515287	0.32432	T	0.251982	0.89154	D	0.800	0.93464	.	.	0.901288979657	0.90030	0.4925179490974643	0.49172	2.11663288113	0.94974	0.757205843925	0.75513	T	0.750042	0.93143	D	-0.0215052	0.48640	T	0.190475	0.82597	D	0.0470011079048231	0.04966	T	.	.	.	0.24944791	0.47939	0.28741214	0.54753	0.24944791	0.47939	0.28741214	0.54752	.	.	.	.	.	.	.	.	.	.	5.320751	0.89306	29.9	0.99875708384203743	0.95244	0.81973	0.41275	D	AEFI	0.535910	0.55434	D	0.273343274480971	0.54802	3.644926	0.148188373407487	0.47047	2.940827	5.96561896204232E-4	0.07414	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.38	2.38	0.28415	5.666000	0.67729	1.519000	0.27078	0.286000	0.18717	1.000000	0.71638	0.863000	0.27509	0.959000	0.51448	0.0:0.7858:0.2142:0.0	9.722	0.39474	796	0.45353	Glycosyl hydrolase, family 13, catalytic domain|Glycosyl hydrolase, family 13, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025	1515.33	33	chr1	103660401	.	C	T	1515.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-5.270e-01;DP=795;ExcessHet=0.0000;FS=1.386;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=35.85;MQRankSum=0.504;QD=10.52;ReadPosRankSum=0.825;SOR=0.853	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1366	19	0	1	1
chr1	108139130	108139130	C	A	exonic	SLC25A24	.	nonsynonymous SNV	SLC25A24:NM_013386:exon9:c.G1177T:p.A393S	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.235	B	0.1	B	0.000	D	1.000	D	1.195	L	-1.37	T	-0.900	T	0.179	T	0.265	3.148	16.53	1.35	0.446	4.865	6.560	0.197	0.0180975617841	.	0.000399361	0.0002	0	0	0	0	1.5e-05	0	0.0013	0.0001617	25	154602	rs568557298	9.938e-05	0.0001	7.91e-05	0.0001	0.0013	8.595e-05	8.063e-05	0.0011	0.0011	0	0	0	0	0	0	2.521e-05	3.316e-05	0.0013	5.909e-05	5.906e-05	2.569e-05	9.4e-05	0.0019	3.075e-05	2.208e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	0.117	0.28271	T	0.1	0.38742	T	0.235	0.30743	B	0.1	0.30674	B	0.000000	0.84330	D	0.046258	0.656081	0.30490	N	0.965	0.23975	L	-1.37	0.80214	T	-0.18	0.09796	N	0.447	0.49602	-0.8997	0.48024	T	0.179	0.52536	T	10	0.03696853	0.02024	T	0.018098	0.40048	T	0.197	0.47942	0.544	0.65731	0.60361576897	0.60044	0.6255096625427284	0.62483	0.385891351295	0.39878	0.418022334576	0.27566	T	0.098855	0.40309	T	-0.305577	0.08143	T	-0.262158	0.48607	T	0.136920623170967	0.16007	T	.	.	.	0.09594263	0.22589	0.08380006	0.19230	0.09594263	0.22588	0.08380006	0.19230	-7.834	0.64996	D	.	.	0.218	0.48561	B	.;.	.;.	3.384219	0.46828	22.4	0.98859507122832613	0.47442	0.95114	0.63489	D	AEFBI	0.481515	0.52277	N	-0.229970386662146	0.31909	1.794071	-0.144948311967637	0.33602	1.923892	0.0125789609369952	0.12346	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.5	1.35	0.21078	5.045000	0.64027	2.716000	0.34274	0.597000	0.34315	1.000000	0.71638	0.994000	0.32194	0.994000	0.71098	0.0:0.4854:0.0:0.5146	6.560	0.21678	613	0.66686	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2625.98	39	chr1	108139130	.	C	A	2625.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.132e+00;DP=958;ExcessHet=0.0000;FS=11.413;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=-1.880e-01;SOR=0.289	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr1	108459069	108459069	G	T	exonic	NBPF6	.	nonsynonymous SNV	NBPF6:NM_001143988:exon9:c.G988T:p.D330Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.561	P	0.032	B	.	.	1.000	N	0.59	N	3.65	T	-0.910	T	0.003	T	0.408	0.348	5.890	-0.444	-0.105	-0.358	3.910	0.025	0.0012615790085	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1227988926	9.617e-05	8.111e-05	6.762e-05	0.0001	0.0006	7.134e-05	6.24e-05	2.803e-05	2.175e-05	0	0	0.0013	0	0	0.0006	5.045e-05	0.0003	7.004e-05	3.789e-05	7.031e-05	6.903e-05	0	2.834e-05	1.006e-05	4.79e-06	.	.	0	0	0	0.0010	0	0	0	2.834e-05	0	0	0.001	0.78490	D	0.004	0.79402	D	0.561	0.38362	P	0.032	0.22131	B	.	.	.	.	1	0.08975	N	1.315	0.32790	L	3.46	0.05710	T	-2.2	0.49519	N	0.12	0.19325	-0.9104	0.46805	T	0.003	0.00994	T	9	0.046438932	0.03834	T	0.001262	0.01708	T	0.025	0.05312	0.38	0.39645	0.0954503805726	0.09146	0.012652330707646915	0.01224	.	.	0.517782270908	0.41314	T	0.047485	0.27738	T	-0.335969	0.05672	T	-0.535729	0.18718	T	0.287244468927383	0.24474	T	0.566543	0.20051	T	0.057154194	0.11340	0.077994354	0.17428	0.057154194	0.11340	0.077994354	0.17428	-5.485	0.41728	T	.	.	0.104	0.21578	B	.;.;.	.;.;.	0.849021	0.12210	8.756	0.85274926957356634	0.15792	0.01165	0.04195	N	AEFI	0.029360	0.02758	N	-1.08991110887903	0.06827	0.3154311	-1.21181217161193	0.05719	0.2733065	1.13855300211887E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.61	-0.444	0.11634	0.088000	0.14821	-9.893000	0.00764	-0.405000	0.05282	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.455:0.0:0.545:0.0	3.910	0.08702	882	0.29131	.;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02778	64.16	4	chr1	108459069	.	G	T	64.16	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.036e+00;DP=60;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0880;MLEAC=1;MLEAF=0.028;MQ=29.05;MQRankSum=0.00;QD=10.69;ReadPosRankSum=-1.036e+00;SOR=2.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:4,0:4:12:.:.:0,12,160	17	0	1	3
chr1	108699434	108699434	G	A	exonic	PRPF38B	.	nonsynonymous SNV	PRPF38B:NM_001349762:exon6:c.G620A:p.R207K	.	.	422	1080	20	0	0	20	0.00917431	.	.	706544	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.23	T	0.002	B	0.003	B	0.000	D	1.000	D	0.695	N	4.25	T	-1.011	T	0.013	T	0.267	1.684	11.59	5.69	2.698	6.000	15.009	0.054	.	0.0069	0.00339457	0.0079	0.0013	0.0046	0.0001	0.0019	0.0101	0.0035	0.0119	0.0073285	1133	154602	rs111751551	0.0094	0.0094	0.0094	0.0093	0.0112	0.0092	0.0092	0.0107	0.0104	0.0014	0.0041	0.0018	2.519e-05	0.0019	0.0054	0.0106	0.0091	0.0112	0.0060	0.0061	0.0066	0.0055	0.0103	0.0057	0.0056	0.0097	0.0094	0.0018	0.0066	0.0048	0.0012	0.0004	0.0009	0	0.0103	0.0019	0.0087	0.096	0.31088	T	0.127	0.35082	T	0.002	0.09854	B	0.003	0.08700	B	0.000001	0.84330	D	0.049672	0.99997	0.58761	D	0.55	0.14455	N	4.25	0.13434	T	-1.62	0.38924	N	0.27	0.31253	-1.0111	0.26573	T	0.013	0.05225	T	10	0.0049079657	0.00105	T	.	.	.	0.054	0.15330	.	.	0.143184338766	0.13958	0.06784419936348626	0.06722	0.256966227711	0.28266	0.82482278347	0.85768	D	0.021192	0.16545	T	-0.514173	0.00475	T	-0.501956	0.22145	T	0.0133942133729663	0.00242	T	0.831217	0.49863	T	0.24854738	0.47843	0.27411863	0.53338	0.24854738	0.47843	0.27411863	0.53337	-5.411	0.41025	T	.	.	0.095	0.21913	B	.;.	.;.	3.429051	0.47650	22.5	0.95714000771508512	0.27628	0.95890	0.66595	D	AEFDGBCI	0.740671	0.68484	D	0.0168679760321758	0.42623	2.571615	0.24080753426113	0.52128	3.389789	0.99999992859262	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.69	5.69	0.88346	6.112000	0.71231	11.930000	0.99908	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0703:0.0:0.9297:0.0	15.009	0.71191	800	0.44535	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1532.98	36	chr1	108699434	.	G	A	1532.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.903;DP=823;ExcessHet=0.0000;FS=1.608;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.03;ReadPosRankSum=0.101;SOR=0.908	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1112	20	0	1	0
chr1	108852636	108852636	G	T	exonic	AKNAD1	.	nonsynonymous SNV	AKNAD1:NM_152763:exon2:c.C29A:p.T10K,	.	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.106	B	0.037	B	0.195	N	1.000	N	1.87	L	3.11	T	-0.959	T	0.006	T	0.135	2.062	12.85	-3.49	-0.600	-0.072	0.472	0.016	0.00411374039312	0.0007	0.000998403	0.0009	0.0001	0.0016	0	0	0.0012	0	8.462e-05	0.0007697	119	154602	rs41279674	0.0007	0.0007	0.0007	0.0007	0.0018	0.0007	0.0007	0.0015	0.0013	0.0002	0.0018	0.0014	0	3.815e-05	0.0011	0.0008	0.0008	4.806e-05	0.0008	0.0008	0.0008	0.0007	0.0021	0.0007	0.0006	0.0015	0.0013	9.633e-05	0	0.0021	0.0017	0	0	0	0.0010	0.0038	0	0.009	0.58626	D	0.022	0.62352	D	0.106	0.26037	B	0.037	0.23121	B	0.194997	0.16747	N	0.580087	1	0.08975	N	1.4	0.35362	L	3.07	0.08810	T	-2.2	0.49519	N	0.147	0.15328	-0.9592	0.39330	T	0.006	0.02131	T	10	0.0068190396	0.00155	T	0.004114	0.09838	T	0.016	0.02506	.	.	0.0297737177859	0.01360	0.15224949985668484	0.15146	0.035799348414	0.03777	0.256818145514	0.04519	T	0.007924	0.07293	T	-0.608898	0.00129	T	-0.660646	0.08222	T	0.0189507665940176	0.00605	T	0.582642	0.21138	T	0.13580665	0.31506	0.12763754	0.30722	0.13580665	0.31506	0.12763754	0.30722	-3.046	0.11388	T	.	.	0.133	0.34970	B	.;.;.	.;.;.	-0.228276	0.02949	0.435	0.74276530274573827	0.10635	0.08699	0.14590	N	AEFDGBIJ	0.088413	0.17924	N	-1.06982855768474	0.07204	0.3339635	-1.17807962330172	0.06277	0.3016525	0.999973557904102	0.50053	0.437478	0.07067	0	0.59043	0.45803	0	0.547309	0.15389	0	0.603991	0.37454	0	.	.	5.64	-3.49	0.04424	-0.075000	0.11392	-0.075000	0.12249	-0.119000	0.14319	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.2297:0.238:0.2894:0.2428	0.472	0.00498	854	0.34840	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2421.98	37	chr1	108852636	.	G	T	2421.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.668;DP=1060;ExcessHet=0.0000;FS=3.120;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.37;ReadPosRankSum=0.406;SOR=0.509	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	20	0	1	0
chr1	108937248	108937248	C	T	exonic	CLCC1	.	nonsynonymous SNV	CLCC1:NM_001278203:exon5:c.G657A:p.M219I	.	.	.	.	.	.	.	.	.	.	.	941358	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.77	T	0.0	B	0.0	B	0.915	N	1.000	N	-1.5	N	0.95	T	-0.947	T	0.007	T	0.044	-2.351	0.004	-6.31	-1.173	-0.701	8.321	0.019	0.0123667437725	7.7e-05	.	5.771e-05	0.0005	0	0.0001	0	0	0	6.072e-05	7.76e-05	12	154602	rs111447204	4.652e-05	4.652e-05	5.445e-05	3.85e-05	0.0009	3.727e-05	3.411e-05	0.0006	0.0006	0.0009	0	0	0	0	0	0	0.0006	4.638e-05	0.0001	0.0001	0.0001	0.0001	0.0004	7.572e-05	6.277e-05	0.0003	0.0002	0.0004	0	0	0	0	0	0	0	0	0	0.47	0.10278	T	0.759	0.06598	T	0.0	0.02946	B	0.0	0.01387	B	0.914581	0.08530	N	0.957927	1	0.08975	N	-0.805	0.01590	N	0.95	0.43279	T	-0.37	0.14588	N	0.111	0.10911	-0.9469	0.41498	T	0.007	0.02399	T	10	0.021848857	0.00532	T	0.012367	0.30882	T	0.019	0.03383	0.423	0.46693	0.149567049428	0.14543	0.048632793796137955	0.04806	.	.	0.336975872517	0.15985	T	0.00389	0.03302	T	-0.615633	0.00117	T	-0.79209	0.02108	T	0.00890188861978279	0.00111	T	0.10379	0.00771	T	0.020051146	0.00550	0.031319845	0.01704	0.020051146	0.00550	0.031319845	0.01703	-3.481	0.18132	T	.	.	0.097	0.23219	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.577983	0.00251	0.004	0.54514869288369971	0.05153	0.04464	0.10072	N	AEFBI	0.039265	0.05679	N	-2.09451639798876	0.00132	0.005638222	-2.05168145328005	0.00237	0.01045207	0.251155555253594	0.18681	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.34	-6.31	0.01826	-0.636000	0.05562	-1.966000	0.04420	-1.426000	0.01121	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2958:0.3143:0.3899:0.0	8.321	0.31291	861	0.33516	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2237.98	33	chr1	108937248	.	C	T	2237.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.424;DP=838;ExcessHet=0.0000;FS=2.929;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.63;ReadPosRankSum=-6.340e-01;SOR=0.471	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1180	20	0	1	0
chr1	109092956	109092956	A	C	exonic	TMEM167B	.	nonsynonymous SNV	TMEM167B:NM_001322248:exon2:c.A77C:p.K26T	.	.	425	1089	8	0	0	8	0.00365965	.	.	2679106	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.39	T	0.669	P	0.355	B	0.000	U	1.000	D	.	.	.	.	-1.014	T	0.099	T	0.771	4.212	21.9	5.63	2.134	8.222	13.800	0.262	0.023389137893	7.7e-05	.	9.06e-05	9.61e-05	0	0	0	0.0001	0	0.0002	9.06e-05	14	154602	rs149500592	8.209e-05	8.209e-05	4.764e-05	0.0001	0.0008	7.002e-05	6.552e-05	0.0006	0.0006	0	0	0	0	0	0.0005	4.137e-05	4.967e-05	0.0008	3.944e-05	3.94e-05	5.14e-05	2.691e-05	7.349e-05	1.716e-05	1.13e-05	2.846e-05	1.858e-05	2.415e-05	0	0	0	0	0	0	7.349e-05	0	0	0.055	0.38407	T	0.105	0.38016	T	0.669	0.41149	P	0.355	0.42984	B	0.000001	0.62929	U	0.000000	0.99951	0.47363	D	.	.	.	.	.	.	-2.86	0.60188	D	0.707	0.71055	-1.0136	0.25784	T	0.099	0.36805	T	8	0.38210648	0.54271	T	0.023389	0.46348	T	0.262	0.57482	.	.	0.281547015583	0.27767	0.9732073783109457	0.97309	1.13977541105	0.78881	0.828316509724	0.86305	D	0.116249	0.43545	T	0.00982123	0.53001	T	0.119062	0.78173	D	0.249846864723333	0.22866	T	0.952205	0.81731	D	0.3905611	0.60072	0.27495378	0.53428	0.3905611	0.60072	0.27495378	0.53427	-3.615	0.18074	T	.	.	0.792	0.76910	P	.	.	4.153158	0.62308	24.4	0.9976477748342184	0.85335	0.97103	0.72707	D	AEFBI	0.848980	0.76580	D	0.378853499870447	0.60276	4.214978	0.482948838849808	0.66861	5.007417	0.999999999993897	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.644132	0.48003	0	0.735409	0.98432	0	.	.	5.63	5.63	0.86108	8.425000	0.90138	11.176000	0.88137	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.800	0.62682	720	0.55521	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2959.11	35	chr1	109092956	.	A	C	2959.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.54;DP=930;ExcessHet=0.1072;FS=1.433;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.57;ReadPosRankSum=0.318;SOR=0.652	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1271	19	0	2	0
chr1	109191727	109191727	G	A	exonic	ELAPOR1	.	nonsynonymous SNV	ELAPOR1:NM_001284353:exon6:c.G533A:p.G178D	.	.	419	1101	2	0	0	2	0.000907441	0.0012	0.08	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	1.0	D	0.997	D	0.000	D	1.000	D	0.55	N	2.85	T	-1.063	T	0.024	T	0.961	0.448	6.430	5.17	2.703	2.372	13.348	0.272	0.00814647037173	0.0026	.	0.0019	0.0004	0.0005	0	0.0015	0.0027	0	0.0018	0.0020828	322	154602	rs41279690	0.0036	0.0036	0.0036	0.0035	0.0043	0.0035	0.0035	0.0042	0.0042	0.0005	0.0003	0.0006	2.519e-05	0.0015	0.0012	0.0043	0.0018	0.0019	0.0019	0.0019	0.0019	0.0019	0.0034	0.0017	0.0016	0.0030	0.0029	0.0009	0	0.0002	0.0009	0	0.0008	0	0.0034	0.0014	0.0006	1.0	0.00964	T	1.0	0.01155	T	1.0	0.90584	D	0.991	0.86255	D	0.000001	0.84330	D	0.053944	0.999714	0.48481	D	1.065	0.27018	L	2.85	0.12884	T	0.66	0.03090	N	0.401	0.44952	-1.0634	0.10926	T	0.024	0.10419	T	10	0.011379093	0.00249	T	0.008146	0.21598	T	0.272	0.58758	.	.	0.44307954383	0.43928	0.7917385801562202	0.79125	0.842956260801	0.68156	0.620166540146	0.55752	T	0.017876	0.14505	T	-0.19173	0.22004	T	-0.0430563	0.67495	D	0.0559133724069985	0.06509	T	0.835916	0.50694	T	0.1933312	0.41038	0.20017408	0.43936	0.1933312	0.41038	0.20017408	0.43935	-4.88	0.46604	T	.	.	0.686	0.78621	P	.;.;.	.;.;.	3.591207	0.50680	23.0	0.82331344840790843	0.14137	0.93833	0.59322	D	AEFDBCI	0.638029	0.61659	D	0.309919258835865	0.56658	3.830741	0.362012110489598	0.59234	4.099608	0.999999997289475	0.74766	0.65861	0.49226	0	0.615948	0.52940	0	0.725225	0.93170	0	0.635259	0.50027	0	.	.	5.17	5.17	0.70848	2.333000	0.43570	9.909000	0.82412	0.674000	0.70861	0.996000	0.39380	1.000000	0.68203	0.470000	0.28341	0.0:0.1587:0.8413:0.0	13.348	0.60029	664	0.61548	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1177.98	35	chr1	109191727	.	G	A	1177.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.77;DP=796;ExcessHet=0.0000;FS=10.614;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.09;ReadPosRankSum=-5.500e-01;SOR=1.721	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr1	109250116	109250116	-	CGC	exonic	CELSR2	.	nonframeshift insertion	CELSR2:NM_001408:exon1:c.37_38insCGC:p.P16_L17insP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7381	28794.1	33	chr1	109250113	.	ACGC	ACGCCGC,A	28794.1	.	AC=31,1;AF=0.738,0.024;AN=42;BaseQRankSum=0.990;DP=1066;ExcessHet=1.5138;FS=0.708;InbreedingCoeff=-0.0500;MLEAC=31,1;MLEAF=0.738,0.024;MQ=60.00;MQRankSum=0.00;QD=30.86;ReadPosRankSum=-5.290e-01;SOR=0.595	GT:AD:DP:GQ:PL	1/1:0,49,0:49:99:2188,147,0,2189,147,2189	1	11	8	0
chr1	109250114	109250116	CGC	-	exonic	CELSR2	.	nonframeshift deletion	CELSR2:NM_001408:exon1:c.35_37del:p.P16del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.599e-06	3.557e-05	7.286e-06	5.903e-06	3.316e-05	3.11e-06	2.25e-06	8.9e-07	6e-07	3.316e-05	0	0	2.792e-05	0	0	3.793e-06	3.555e-05	1.259e-05	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7381	28794.1	33	chr1	109250113	.	ACGC	ACGCCGC,A	28794.1	.	AC=31,1;AF=0.738,0.024;AN=42;BaseQRankSum=0.990;DP=1066;ExcessHet=1.5138;FS=0.708;InbreedingCoeff=-0.0500;MLEAC=31,1;MLEAF=0.738,0.024;MQ=60.00;MQRankSum=0.00;QD=30.86;ReadPosRankSum=-5.290e-01;SOR=0.595	GT:AD:DP:GQ:PL	1/1:0,49,0:49:99:2188,147,0,2189,147,2189	1	11	8	0
chr1	109251971	109251971	C	T	exonic	CELSR2	.	nonsynonymous SNV	CELSR2:NM_001408:exon1:c.C1892T:p.T631M,	.	.	415	1101	6	0	0	6	0.00271739	.	.	731546	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	1.0	D	1.0	D	.	.	1.000	D	2.255	M	4.08	T	-1.176	T	0.029	T	0.797	2.919	15.73	4.95	2.600	4.776	15.587	0.249	0.0084220510358	0.0033	0.00119808	0.0039	0.0013	0.0016	0.0001	0.0014	0.0061	0.0033	0.0015	0.0041655	644	154602	rs41279706	0.0053	0.0053	0.0054	0.0052	0.0064	0.0052	0.0052	0.0062	0.0062	0.0008	0.0024	0.0001	7.557e-05	0.0019	0.0040	0.0064	0.0050	0.0017	0.0034	0.0034	0.0035	0.0033	0.0057	0.0032	0.0031	0.0053	0.0051	0.0011	0	0.0029	0	0.0004	0.0021	0	0.0057	0.0028	0.0012	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999927	0.51308	D	2.295	0.65404	M	4.08	0.03003	T	-4.15	0.75297	D	0.798	0.79406	-1.1757	0.00437	T	0.029	0.12453	T	9	0.023953468	0.00643	T	0.008422	0.22282	T	0.249	0.55752	.	.	0.526083527127	0.52256	0.444074245375542	0.44325	1.21388553281	0.80903	0.695509850979	0.66496	T	0.414316	0.76791	T	-0.263966	0.12439	T	-0.143984	0.59770	T	0.0311747803452138	0.02174	T	0.872813	0.58002	D	0.33937046	0.56229	0.34981853	0.60601	0.33937046	0.56229	0.34981853	0.60601	-9.774	0.72547	D	0.2583078757250682	0.34901	0.085	0.10400	B	.	.	5.225226	0.87703	29.3	0.99883443126596039	0.95892	0.88632	0.48651	D	AEFBCI	0.476490	0.51988	N	0.739437953857987	0.82215	7.708061	0.696107921546824	0.82082	7.680004	0.99999999896488	0.74766	0.736574	0.97449	0	0.626922	0.53725	0	0.732669	0.93749	0	0.616125	0.45549	0	.	.	4.95	4.95	0.64894	3.381000	0.52188	4.105000	0.41886	0.599000	0.40250	0.996000	0.39380	0.999000	0.35428	0.997000	0.79791	0.0:0.8625:0.1375:0.0	15.587	0.76240	764	0.49969	Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3735.98	157	chr1	109251971	.	C	T	3735.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.05;DP=3435;ExcessHet=0.0000;FS=0.423;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=0.103;SOR=0.729	GT:AD:DP:GQ:PL	0/0:161,0:161:99:0,120,1800	20	0	1	0
chr1	109268900	109268900	G	A	exonic	CELSR2	.	nonsynonymous SNV	CELSR2:NM_001408:exon19:c.G6523A:p.D2175N,	.	.	428	1050	44	0	0	44	0.0205224	.	.	695964	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.07	T	0.164	B	0.093	B	.	.	0.742	D	1.525	L	2.83	T	-1.067	T	0.014	T	0.025	2.356	13.84	4.36	2.430	3.180	10.689	0.085	.	0.0008	0.00499201	0.0054	0.0004	0.0010	0	0.0003	0.0018	0.0123	0.0316	0.0046118	713	154602	rs148006855	0.0033	0.0033	0.0024	0.0043	0.0319	0.0033	0.0032	0.0309	0.0305	0.0002	0.0008	0.0021	7.573e-05	0.0005	0.0155	0.0016	0.0030	0.0319	0.0020	0.0020	0.0016	0.0025	0.0325	0.0018	0.0018	0.0284	0.0268	0.0002	0	0.0010	0.0014	0	0.0004	0.0170	0.0016	0.0019	0.0325	0.048	0.40068	D	0.07	0.43721	T	0.164	0.28467	B	0.093	0.30104	B	.	.	.	.	0.741849	0.33831	D	1.57	0.39626	L	2.83	0.10771	T	-2.44	0.53420	N	0.298	0.33687	-1.0674	0.09994	T	0.014	0.05705	T	9	0.0076488853	0.00174	T	.	.	.	0.085	0.24743	.	.	0.439152036679	0.43537	0.4631125077265832	0.46230	0.490684585981	0.47779	0.512682080269	0.40597	T	0.136953	0.46962	T	-0.671194	0.00054	T	-0.713215	0.05130	T	0.0196966171121101	0.00671	T	0.867113	0.56785	D	0.14362688	0.33002	0.14928035	0.35252	0.14362688	0.33001	0.14928035	0.35251	-7.947	0.60708	D	0.6301938798091679	0.69948	0.113	0.22135	B	.	.	4.028730	0.59562	24.1	0.99688707572020374	0.79775	0.88399	0.48309	D	AEFBI	0.233094	0.35607	N	0.0172448352837668	0.42640	2.572948	0.13798531972065	0.46509	2.895725	0.990184124769994	0.32067	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.36	4.36	0.51643	3.070000	0.49732	11.772000	0.95887	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0898:0.0:0.9102:0.0	10.689	0.45056	769	0.49307	GAIN domain, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1982.98	39	chr1	109268900	.	G	A	1982.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.15;DP=882;ExcessHet=0.0000;FS=13.396;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=-3.100e-01;SOR=1.063	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1263	20	0	1	0
chr1	109273244	109273244	C	T	exonic	CELSR2	.	nonsynonymous SNV	CELSR2:NM_001408:exon32:c.C8417T:p.A2806V,	.	.	416	1098	8	0	0	8	0.00362976	.	.	1643650	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.29	T	0.0	B	0.0	B	.	.	1.000	N	0	N	-0.32	T	-1.021	T	0.046	T	0.07	0.182	4.981	-0.074	0.089	-0.721	6.207	0.095	.	7.7e-05	0.0155751	0.0097	0	0.0004	0.0448	0.0189	0.0020	0.0112	0.0319	0.0083246	1287	154602	rs77619489	0.0041	0.0041	0.0036	0.0047	0.0499	0.0040	0.0040	0.0480	0.0473	0	0.0003	0	0.0499	0.0174	0.0005	0.0003	0.0054	0.0288	0.0040	0.0041	0.0026	0.0055	0.0409	0.0038	0.0037	0.0364	0.0347	4.813e-05	0	0.0003	0	0.0409	0.0187	0	0.0004	0.0024	0.0344	0.134	0.26300	T	0.265	0.22694	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-0.32	0.68181	T	-1.02	0.26843	N	0.165	0.17416	-1.0208	0.23454	T	0.046	0.19879	T	9	0.0025497675	0.00039	T	.	.	.	0.095	0.27398	.	.	0.404793603054	0.40094	0.13638536455219502	0.13562	0.385191563647	0.39810	0.373368829489	0.21314	T	0.121821	0.44506	T	-0.573971	0.00210	T	-0.565111	0.15900	T	0.0101433273382964	0.00137	T	0.791621	0.43272	T	0.05638287	0.11086	0.057821013	0.10579	0.05638287	0.11085	0.057821013	0.10579	-4.43	0.29961	T	.	.	0.069	0.02993	B	.	.	0.776055	0.11463	8.066	0.97307226243689204	0.33308	0.08074	0.14046	N	AEFDGBHCI	0.053422	0.09624	N	-1.08910173565791	0.06843	0.3161741	-1.08328659265427	0.08029	0.3930309	0.999999996477647	0.74766	0.718356	0.82227	0	0.573888	0.26702	0	0.570548	0.19454	0	0.604944	0.38103	0	.	.	4.51	-0.0736	0.13067	-0.492000	0.06547	-1.092000	0.06355	0.522000	0.23927	0.000000	0.06391	0.000000	0.08366	0.518000	0.29429	0.0:0.5473:0.2824:0.1703	6.207	0.19821	679	0.60090	.	.	.	.	.	rs77619489	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	954.98	37	chr1	109273244	.	C	T	954.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.980e-01;DP=929;ExcessHet=0.0000;FS=1.814;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=0.585;SOR=0.745	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1154	20	0	1	0
chr1	109296860	109296860	C	T	exonic	MYBPHL	.	nonsynonymous SNV	MYBPHL:NM_001010985:exon5:c.G653A:p.R218H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	0.996	D	4.54	H	-2.91	D	0.967	D	0.912	D	0.898	3.920	19.94	3.1	1.355	2.946	9.877	0.760	0.113884012911	0.0030	0.000998403	0.0023	0.0007	0.0016	0.0010	0.0009	0.0035	0.0011	0.0007	0.0023803	368	154602	rs151201446	0.0038	0.0038	0.0039	0.0037	0.0046	0.0037	0.0037	0.0045	0.0045	0.0006	0.0021	0.0004	0.0003	0.0006	0.0005	0.0046	0.0031	0.0007	0.0026	0.0026	0.0028	0.0025	0.0046	0.0024	0.0023	0.0041	0.0040	0.0008	0	0.0022	0.0012	0.0004	0.0008	0.0068	0.0046	0.0019	0.0008	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.996363	0.43162	D	4.84	0.99705	H	-2.91	0.91696	D	-4.81	0.80767	D	0.839	0.83473	0.967	0.96657	D	0.912	0.97093	D	9	0.13706532	0.26075	T	0.113884	0.79254	D	0.760	0.91837	.	.	0.973786024211	0.97350	0.4712323227771836	0.47042	0.689962583581	0.60511	0.303724884987	0.10959	T	0.199973	0.55742	T	0.107412	0.65082	D	0.383848	0.91565	D	0.13877521384704	0.16169	T	0.993201	0.97808	D	0.43906623	0.63342	0.46811417	0.69146	0.43906623	0.63343	0.46811417	0.69147	-10.192	0.75052	D	.	.	0.346	0.56317	A	.	.	3.393745	0.46997	22.4	0.99951925462142499	0.99951	0.93072	0.57256	D	AEFDBI	0.488867	0.52701	N	0.717697838652521	0.80791	7.373527	0.534906747334722	0.70354	5.492917	0.999999238300328	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.01	3.1	0.34780	3.134000	0.50233	0.539000	0.19316	0.599000	0.40250	0.994000	0.38300	0.064000	0.22093	0.469000	0.28319	0.0:0.8282:0.0:0.1718	9.877	0.40382	644	0.63734	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2101.98	45	chr1	109296860	.	C	T	2101.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.795;DP=1299;ExcessHet=0.0000;FS=0.531;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.01;ReadPosRankSum=-1.910e-01;SOR=0.742	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1509	20	0	1	0
chr1	109336271	109336271	T	C	exonic	SORT1	.	nonsynonymous SNV	SORT1:NM_001205228:exon11:c.A929G:p.E310G	.	.	415	1097	10	0	0	10	0.00453721	.	.	2809057	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.36	T	0.061	B	0.014	B	0.049	N	0.656	N	0.55	N	1.5	T	-1.057	T	0.023	T	0.106	2.034	12.76	5.69	2.158	2.476	14.928	0.066	0.0124711557258	0.0010	0.000798722	0.0011	0.0003	0.0003	0	0.0002	0.0014	0.0033	0.0015	0.0010349	160	154602	rs144141753	0.0013	0.0013	0.0012	0.0013	0.0023	0.0012	0.0012	0.0016	0.0015	0.0002	0.0006	7.654e-05	0	0.0002	0.0023	0.0014	0.0013	0.0019	0.0010	0.0010	0.0009	0.0011	0.0017	0.0009	0.0008	0.0013	0.0012	0.0002	0	0.0016	0	0	9.416e-05	0.0034	0.0015	0.0009	0.0017	0.236	0.17940	T	0.134	0.36765	T	0.061	0.23190	B	0.014	0.16862	B	0.048910	0.23209	N	0.480610	0.655873	0.30492	N	0.325	0.10370	N	1.5	0.31205	T	-1.99	0.49846	N	0.173	0.18512	-1.0574	0.12414	T	0.023	0.09923	T	10	0.014367729	0.00302	T	0.012471	0.31071	T	0.066	0.19193	.	.	0.168254554758	0.16434	0.5782027026316144	0.57749	0.288233243293	0.31233	0.273800849915	0.06642	T	0.095323	0.39597	T	-0.57606	0.00204	T	-0.613477	0.11704	T	0.020713245384471	0.00771	T	0.829717	0.49530	T	0.18397753	0.39690	0.27595633	0.53537	0.18397753	0.39690	0.27595633	0.53536	-6.169	0.51554	T	.	.	0.103	0.25100	B	.;.	.;.	3.151140	0.42657	21.6	0.99608174192338039	0.74634	0.93277	0.57788	D	AEFBI	0.644807	0.62093	D	-0.271981791002468	0.30235	1.683944	-0.0847305596107092	0.36019	2.091024	0.79598719877217	0.24100	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.579976	0.35079	0	.	.	5.69	5.69	0.88346	2.305000	0.43324	4.991000	0.46528	0.665000	0.62972	0.977000	0.34929	1.000000	0.68203	0.955000	0.50612	0.0:0.0:0.0:1.0	14.928	0.70537	637	0.64373	.;Sortilin, N-terminal|VPS10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1273.98	34	chr1	109336271	.	T	C	1273.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.853e+00;DP=841;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.88;ReadPosRankSum=0.657;SOR=0.748	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1323	20	0	1	0
chr1	109345758	109345758	G	C	exonic	SORT1	.	nonsynonymous SNV	SORT1:NM_001205228:exon8:c.C545G:p.A182G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.015	B	0.009	B	0.000	D	0.633	N	1.15	L	1.99	T	-1.062	T	0.021	T	0.238	2.228	13.41	5.41	2.530	5.469	16.109	0.070	0.00713107510447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.29029	T	0.327	0.18732	T	0.015	0.17086	B	0.009	0.14300	B	0.000127	0.49741	D	0.176319	0.886658	0.30679	N	0.895	0.22405	L	1.99	0.21666	T	-1.46	0.35792	N	0.178	0.19190	-1.0619	0.11288	T	0.021	0.08963	T	10	0.16443697	0.30763	T	0.007131	0.18896	T	0.070	0.20419	0.493	0.58048	0.287411543184	0.28351	0.31196433258006695	0.31109	0.254908179883	0.28068	0.620297551155	0.55771	T	0.090282	0.38551	T	-0.16535	0.25939	T	-0.475291	0.24947	T	0.790876150131226	0.45747	D	0.874113	0.58433	D	0.2534384	0.48366	0.16509998	0.38212	0.2534384	0.48365	0.16509998	0.38211	-9.816	0.72802	D	.	.	0.119	0.37063	B	.;.	.;.	4.539647	0.71347	25.7	0.98019852777233496	0.37620	0.93133	0.57412	D	AEFBCI	0.831726	0.75022	D	-0.0433107464620862	0.39902	2.361	0.15510709388241	0.47413	2.971915	0.999998613975531	0.74766	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.579976	0.35079	0	.	.	5.41	5.41	0.78313	5.605000	0.67317	11.781000	0.96113	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	16.109	0.81055	649	0.63102	.;Sortilin, N-terminal|VPS10	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	699.98	34	chr1	109345758	.	G	C	699.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.490e+00;DP=799;ExcessHet=0.0000;FS=0.816;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.37;ReadPosRankSum=-1.660e-01;SOR=0.597	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1283	20	0	1	0
chr1	109397837	109397837	C	T	exonic	SORT1	.	nonsynonymous SNV	SORT1:NM_002959:exon1:c.G56A:p.G19D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.13	B	0.076	B	0.493	N	1.000	D	0	N	2.49	T	-0.984	T	0.009	T	0.536	2.062	12.85	3.82	1.971	3.591	8.636	0.155	0.168377291209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.681e-07	7.114e-05	1.707e-06	0	1.056e-06	0	0	.	.	0	0	0	0	0	0	1.056e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.0	0.92824	D	0.13	0.27095	B	0.076	0.28435	B	0.492899	0.05046	N	1.400500	0.898608	0.27745	N	0.345	0.11182	N	2.49	0.14531	T	-0.41	0.14000	N	0.175	0.18784	-0.9837	0.34140	T	0.009	0.03271	T	10	0.13995436	0.26605	T	0.168377	0.84649	D	0.155	0.40530	0.309	0.28128	0.718660675997	0.71618	0.35650639927577576	0.35564	3.96447962958	0.99874	0.897408604622	0.96148	D	0.121028	0.44369	T	-0.175747	0.24372	T	-0.490225	0.23368	T	0.746516346931458	0.43092	D	0.49905	0.15565	T	0.069819726	0.15328	0.14618352	0.34642	0.069819726	0.15328	0.14618352	0.34641	-8.933	0.67264	D	.	.	0.393	0.59194	A	.	.	2.649779	0.34500	19.64	0.98765345786365522	0.45878	0.88797	0.48900	D	AEFDGBHCI	0.342840	0.43886	N	-0.403200619845908	0.25357	1.37588	-0.277176201164063	0.28852	1.611876	0.99999999999834	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.519653	0.09787	0	0.554799	0.18163	0	.	.	3.82	3.82	0.43153	0.160000	0.16278	1.783000	0.28733	0.498000	0.22619	0.034000	0.20669	0.999000	0.35428	0.028000	0.12845	0.2283:0.7717:0.0:0.0	8.636	0.33112	735	0.53711	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	30.98	15	chr1	109397837	.	C	T	30.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.120e+00;DP=395;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.07;ReadPosRankSum=1.28;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:29,0:29:81:.:.:0,81,1215	20	0	1	0
chr1	109477999	109477999	A	G	exonic	SYPL2	.	nonsynonymous SNV	SYPL2:NM_001040709:exon5:c.A638G:p.N213S,	.	.	413	1103	6	0	0	6	0.00271248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.957	D	0.806	P	0.000	D	1.000	D	2.3	M	1.71	T	-0.991	T	0.103	T	0.318	4.351	22.9	6.04	2.317	7.213	15.559	0.410	.	0.0041	0.00159744	0.0059	0.0008	0.0008	0	0.0159	0.0083	0.0071	0.0023	0.005498	850	154602	rs62641754	0.0053	0.0053	0.0054	0.0052	0.0058	0.0052	0.0052	0.0057	0.0056	0.0007	0.0011	0.0002	2.519e-05	0.0139	0.0012	0.0058	0.0050	0.0023	0.0050	0.0050	0.0046	0.0053	0.0066	0.0047	0.0046	0.0061	0.0059	0.0012	0.0493	0.0024	0	0.0002	0.0158	0	0.0066	0.0005	0.0010	0.001	0.78490	D	0.003	0.76473	D	0.957	0.54824	D	0.751	0.56062	P	0.000000	0.84330	D	0.000000	0.999414	0.81001	D	2.955	0.85029	M	1.71	0.26737	T	-4.51	0.78222	D	0.91	0.91162	-0.9908	0.32398	T	0.103	0.37894	T	10	0.013972938	0.00295	T	.	.	.	0.410	0.72176	.	.	0.223847106136	0.22009	0.7252880645645586	0.72472	0.631928963362	0.57141	0.692426621914	0.66054	T	0.477208	0.80754	T	-0.407462	0.02067	T	-0.347679	0.39470	T	0.020658057054465	0.00766	T	0.923508	0.72088	D	0.5628381	0.70666	0.6351804	0.78703	0.5628381	0.70667	0.6351804	0.78704	-8.906	0.67090	D	.	.	0.284	0.51686	B	.	.	4.651097	0.74149	26.1	0.99870868755598652	0.94815	0.91216	0.53088	D	AEFDGBHCI	0.816927	0.73854	D	0.727220554962597	0.81416	7.517218	0.735654743539371	0.85082	8.475595	0.999999999974968	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.550215	0.18615	0	0.530356	0.10902	0	.	.	6.04	6.04	0.98025	7.413000	0.79318	11.244000	0.90520	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.559	0.75963	576	0.70006	Marvel domain|Marvel domain	.	.	.	.	rs62641754	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	782.98	34	chr1	109477999	.	A	G	782.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.44;DP=785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.50;ReadPosRankSum=1.24;SOR=0.578	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr1	109508512	109508512	T	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.A401G:p.Q134R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.0	B	0.0	B	0.458	N	1.000	N	0.345	N	0.41	T	-1.019	T	0.033	T	0.08	-0.740	0.846	3.48	0.986	-0.792	7.365	0.121	0.00810946109153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.08335	T	0.54	0.09760	T	0.0	0.02946	B	0.0	0.01387	B	0.457897	0.12427	N	0.705168	1	0.08975	N	1.59	0.40313	L	0.41	0.57100	T	-0.97	0.25770	N	0.062	0.04668	-1.0186	0.24171	T	0.033	0.14073	T	10	0.06918228	0.09891	T	0.008109	0.21495	T	0.121	0.33580	0.482	0.56302	0.434676477133	0.43086	0.3770915481570459	0.37624	1.02418455402	0.75209	0.369402647018	0.20746	T	0.017066	0.13986	T	-0.254754	0.13521	T	-0.603713	0.12501	T	0.0488054864108562	0.05288	T	0.531447	0.17660	T	0.09019645	0.21098	0.06598651	0.13452	0.09019645	0.21098	0.06598651	0.13451	-2.464	0.05540	T	.	.	0.068	0.02894	B	.;.	.;.	1.850417	0.23505	16.04	0.70065704017583319	0.09174	0.14143	0.18246	N	AEFDBCI	0.089287	0.18097	N	-0.893064748432297	0.11007	0.528884	-0.828730428861116	0.13800	0.7178417	0.995105370376669	0.33954	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.59522	0.37078	0	.	.	5.84	3.48	0.38946	-0.794000	0.04690	1.946000	0.29857	0.665000	0.62972	0.000000	0.06391	0.993000	0.31925	0.321000	0.24994	0.0:0.0758:0.1465:0.7778	7.365	0.25939	615	0.66512	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1527.98	33	chr1	109508512	.	T	C	1527.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.953e+00;DP=984;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=1.37;SOR=0.747	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1379	20	0	1	0
chr1	109508616	109508616	G	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.C297G:p.N99K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.375	B	0.25	B	0.024	N	0.989	D	-0.01	N	4.38	T	-0.907	T	0.002	T	0.107	1.805	12.00	1.09	0.047	0.976	9.065	0.048	0.00471979587979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.402e-05	0.0008	2.459e-05	2.345e-05	0.0002	1.744e-05	1.544e-05	2.006e-05	1.747e-05	5.989e-05	0	0	0	0	0.0002	2.799e-05	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.096	0.39340	T	0.375	0.34209	B	0.25	0.39011	B	0.023848	0.26367	N	0.283710	0.989351	0.40936	D	-0.805	0.01590	N	4.38	0.02255	T	-0.42	0.14193	N	0.251	0.32481	-0.9074	0.47168	T	0.002	0.00526	T	10	0.13895068	0.26423	T	0.00472	0.11753	T	0.048	0.13305	0.424	0.46857	0.303871581278	0.30001	0.3848348631254194	0.38398	1.20472787136	0.80666	0.608450233936	0.54097	T	0.010575	0.09538	T	-0.290714	0.09565	T	-0.655367	0.08582	T	0.544324159622192	0.34265	D	0.79742	0.44137	T	0.08433104	0.19514	0.09508742	0.22536	0.08433104	0.19513	0.09508742	0.22536	-4.691	0.33295	T	.	.	0.266	0.50527	B	.;.	.;.	1.875938	0.23830	16.17	0.98865697297219557	0.47545	0.82763	0.41947	D	AEFBCI	0.391245	0.46976	N	-0.506877925592794	0.21857	1.163021	-0.39326206815582	0.25196	1.384239	0.905472008325259	0.26205	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	1.09	0.19517	1.118000	0.30860	3.404000	0.38147	0.676000	0.76740	0.809000	0.29839	1.000000	0.68203	1.000000	0.97212	0.304:0.0:0.696:0.0	9.065	0.35621	615	0.66512	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	1579.24	62	chr1	109508616	.	G	C	1579.24	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-3.065e+00;DP=1797;ExcessHet=2.5830;FS=184.263;InbreedingCoeff=-0.2692;MLEAC=8;MLEAF=0.222;MQ=60.00;MQRankSum=0.00;QD=2.22;ReadPosRankSum=1.17;SOR=8.429	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1379	11	0	7	3
chr1	109508618	109508618	T	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.A295G:p.N99D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.046	B	0.204	B	0.024	N	0.837	N	0.38	N	4.32	T	-0.901	T	0.003	T	0.081	1.806	12.00	2.58	0.900	-0.546	6.884	0.050	0.00431994233541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.43e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.098	0.39040	T	0.046	0.21875	B	0.204	0.37039	B	0.023848	0.26367	N	0.283710	0.837229	0.28680	N	-0.135	0.04517	N	4.32	0.02387	T	-0.65	0.18877	N	0.264	0.35301	-0.9012	0.47868	T	0.003	0.00832	T	10	0.09139174	0.16007	T	0.00432	0.10498	T	0.050	0.13987	0.302	0.27003	0.35421846163	0.35036	0.42623265837729346	0.42540	1.16636633486	0.79636	0.593713998795	0.52018	T	0.016495	0.13623	T	-0.33	0.06112	T	-0.711798	0.05203	T	0.54811829328537	0.34407	D	0.660634	0.26999	T	0.10292237	0.24323	0.1119965	0.27018	0.10292237	0.24322	0.1119965	0.27018	-2.193	0.04007	T	.	.	0.145	0.32079	B	.;.	.;.	1.909142	0.24245	16.33	0.98833880806686136	0.47002	0.33936	0.24948	N	AEFBCI	0.215332	0.34070	N	-0.58773012198282	0.19317	1.009999	-0.480569429772215	0.22688	1.233631	0.896117992834435	0.25970	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	2.58	0.30011	-0.458000	0.06813	0.851000	0.22138	0.665000	0.62972	0.000000	0.06391	1.000000	0.68203	1.000000	0.97212	0.1294:0.0:0.2917:0.5789	6.884	0.23373	615	0.66512	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	194.98	36	chr1	109508618	.	T	C	194.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.287e+00;DP=1064;ExcessHet=0.0000;FS=54.520;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.41;ReadPosRankSum=1.72;SOR=6.091	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1379	20	0	1	0
chr1	109573739	109573739	G	T	exonic	GNAI3	.	nonsynonymous SNV	GNAI3:NM_006496:exon2:c.G121T:p.A41S,	Auriculocondylar syndrome 1, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.992	D	0.000	D	1.000	D	1.965	M	-2.34	D	0.577	D	0.732	D	0.677	5.254	33	4.95	2.567	9.392	17.974	0.776	0.202459004402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.15	0.32461	T	0.996	0.68779	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.025	0.55430	M	-2.34	0.87989	D	-2.1	0.47852	N	0.589	0.60918	0.577	0.91590	D	0.732	0.90815	D	10	0.8665968	0.85906	D	0.202459	0.86822	D	0.776	0.92501	0.822	0.93461	0.964682072619	0.96430	0.6749589960563338	0.67433	1.48735837486	0.86818	0.856574594975	0.90603	D	0.812649	0.95334	D	0.25127	0.78720	D	0.123156	0.78444	D	0.971368908882141	0.69290	D	0.832517	0.50110	T	0.91167796	0.92452	0.8071175	0.88717	0.91167796	0.92453	0.8071175	0.88718	-8.884	0.66946	D	0.524568101234359	0.59632	0.536	0.66186	A	.	.	4.614239	0.73203	26.0	0.99750483587024696	0.84228	0.99504	0.96829	D	AEFBI	0.930639	0.91824	D	0.809714039946493	0.86710	8.97362	0.786678649761017	0.88852	9.740486	0.999999999999999	0.74766	0.736574	0.97449	0	0.743671	0.97443	0	0.709663	0.75317	0	0.677812	0.66336	0	.	.	4.95	4.95	0.64894	9.735000	0.98037	11.886000	0.98962	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.974	0.89044	819	0.41190	.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1096.98	34	chr1	109573739	.	G	T	1096.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.490e-01;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.67;ReadPosRankSum=0.820;SOR=0.791	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr1	109608722	109608722	C	T	exonic	GNAT2	.	nonsynonymous SNV	GNAT2:NM_005272:exon4:c.G370A:p.V124M	Achromatopsia 4	.	0	1512	9	1	0	11	0.00362438	.	.	194412	not_specified|GNAT2-related_disorder|not_provided|Achromatopsia_4	MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0013465,MedGen:C1841721,OMIM:613856,Orphanet:49382	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.99	D	0.738	P	0.006	N	0.868	D	2.335	M	-2.43	D	0.530	D	0.714	D	0.453	3.993	20.5	4.69	2.600	2.345	17.774	0.335	0.0446554630595	0.0045	0.00259585	0.0054	0.0009	0.0021	0	0.0032	0.0075	0.0066	0.0061	0.0055821	863	154602	rs41280330	0.0069	0.0069	0.0070	0.0069	0.0079	0.0068	0.0068	0.0077	0.0077	0.0010	0.0022	0.0036	0	0.0042	0.0059	0.0079	0.0067	0.0061	0.0044	0.0044	0.0045	0.0043	0.0075	0.0041	0.0040	0.0065	0.0063	0.0012	0	0.0032	0.0020	0.0004	0.0030	0	0.0071	0.0043	0.0075	0.046	0.40573	D	0.065	0.44702	T	0.99	0.63424	D	0.738	0.55619	P	0.005516	0.32736	N	0.287924	0.868387	0.35516	D	1.63	0.41750	L	-2.43	0.88689	D	-0.41	0.14000	N	0.426	0.46555	0.530	0.90961	D	0.714	0.90196	D	10	0.008829892	0.00200	T	0.044655	0.61597	D	0.335	0.65718	.	.	0.921974883161	0.92118	0.8104456628994533	0.80999	0.354423072536	0.37217	0.497574865818	0.38490	T	0.423673	0.77435	T	-0.23169	0.16426	T	-0.096188	0.63691	T	0.0494856905650249	0.05409	T	0.973003	0.90263	D	0.19789441	0.41672	0.24691439	0.50211	0.18797	0.40274	0.24691439	0.50210	-5.791	0.44496	T	0.2074948243035606	0.27734	0.243	0.47697	B	.	.	4.155617	0.62368	24.4	0.99895602382781312	0.96895	0.91798	0.54285	D	AEFBI	0.437475	0.49726	N	0.562450296784154	0.70845	5.56152	0.525014713537541	0.69678	5.394781	0.99998920776304	0.51787	0.421363	0.06395	0	0.550933	0.16991	0	0.491513	0.07944	0	0.664235	0.64389	0	.	.	4.69	4.69	0.58546	2.020000	0.40630	7.667000	0.64568	0.599000	0.40250	0.897000	0.31356	1.000000	0.68203	0.842000	0.39752	0.0:1.0:0.0:0.0	17.774	0.88411	851	0.35303	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2432.98	38	chr1	109608722	.	C	T	2432.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.30;DP=922;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=-1.690e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr1	109621124	109621124	C	G	exonic	AMPD2	.	nonsynonymous SNV	AMPD2:NM_001308170:exon1:c.C17G:p.A6G,	Pontocerebellar hypoplasia, type 9, Autosomal recessive	.	411	1102	8	1	0	10	0.00451671	.	.	690324	Hereditary_spastic_paraplegia_63|Pontocerebellar_hypoplasia_type_9|not_provided	MONDO:MONDO:0014305,MedGen:C3810295,OMIM:615686,Orphanet:401805|MONDO:MONDO:0014351,MedGen:C4014354,OMIM:615809,Orphanet:369920|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	.	.	1.000	D	.	.	-2.03	D	-1.004	T	0.102	T	.	-0.002	4.004	0.29	0.536	-0.114	6.662	0.036	0.647434471807	.	0.000798722	0.0012	0	0.0003	0	0	8.212e-05	0	0.0060	0.0006533	101	154602	rs570541266	0.0003	0.0003	0.0002	0.0005	0.0050	0.0003	0.0003	0.0046	0.0045	0	2.29e-05	0	5.154e-05	0	0.0004	3.349e-05	0.0004	0.0050	0.0002	0.0002	0.0001	0.0002	0.0044	0.0001	9.7e-05	0.0029	0.0025	0	0	0	0	0	0	0	5.882e-05	0	0.0044	0.974	0.02034	T	0.568	0.08870	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999541	0.47497	D	.	.	.	-2.03	0.85613	D	-0.16	0.09460	N	0.279	0.31590	-1.0043	0.28666	T	0.102	0.37694	T	7	0.005859673	0.00131	T	0.647434	0.97009	D	0.157	0.40909	0.148	0.05138	0.658416286431	0.65555	.	.	.	.	.	.	.	.	.	.	-0.23072	0.16555	T	-0.102547	0.63201	T	0.0155271133238361	0.00352	T	0.49655	0.15423	T	.	.	.	.	.	.	.	.	-3.355	0.14457	T	.	.	0.080	0.07937	B	.	.	2.123303	0.27030	17.32	0.82919572938239627	0.14445	0.07285	0.13308	N	ALL	0.022525	0.01136	N	-0.310894542526896	0.28732	1.58731	-0.372469697760626	0.25820	1.422366	0.999999999999989	0.74766	0.56387	0.32371	0	0.484254	0.07192	0	0.503968	0.08637	0	0.249971	0.05119	0	.	.	3.81	0.29	0.14978	-0.115000	0.10713	0.424000	0.18252	0.549000	0.26987	0.001000	0.13787	0.997000	0.33255	0.984000	0.60418	0.0:0.416:0.4695:0.1145	6.662	0.22211	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1059.98	40	chr1	109621124	.	C	G	1059.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.613;DP=781;ExcessHet=0.0000;FS=4.857;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.82;ReadPosRankSum=-4.940e-01;SOR=0.701	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr1	109669311	109669311	A	G	exonic	GSTM2	.	nonsynonymous SNV	GSTM2:NM_000848:exon4:c.A199G:p.T67A	.	.	420	1092	9	1	0	11	0.00501139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.0	B	0.001	B	0.103	N	1.000	N	0.945	L	1.01	T	-1.052	T	0.019	T	0.283	1.887	12.27	-6.31	-1.836	-1.771	3.555	0.050	0.00587632882153	0.0021	0.000599042	0.0015	0.0018	0.0013	0.0001	0	0.0022	0.0011	0.0004	0.0001035	16	154602	rs2227960	0.0013	0.0013	0.0013	0.0013	0.0050	0.0013	0.0012	0.0036	0.0031	0.0015	0.0013	0.0089	5.038e-05	0.0004	0.0050	0.0013	0.0017	0.0005	0.0014	0.0014	0.0015	0.0013	0.0016	0.0012	0.0012	0.0014	0.0013	0.0008	0	0.0013	0.0092	0.0002	0.0005	0.0102	0.0016	0.0024	0	0.192	0.23360	T	0.123	0.37037	T	0.0	0.02946	B	0.0	0.01387	B	0.102916	0.19771	N	0.435255	0.999995	0.58761	D	0.71	0.18616	N	1.01	0.41058	T	-0.35	0.16598	N	0.069	0.13055	-1.0515	0.13981	T	0.019	0.07800	T	10	0.005926341	0.00133	T	0.005876	0.15281	T	0.050	0.13987	.	.	0.208000267992	0.20380	0.3583774972703744	0.35751	0.578020300285	0.53709	.	.	.	0.00557	0.24118	T	-0.554663	0.00273	T	-0.588526	0.13793	T	0.00154941195658411	0.00016	T	0.175482	0.02724	T	0.055423252	0.10768	0.038369905	0.03691	0.055423252	0.10768	0.038369905	0.03690	-3.346	0.14338	T	.	.	0.081	0.08417	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.875645	0.00967	0.038	0.87398523941642425	0.17199	0.00658	0.02853	N	AEFDBIJ	0.029066	0.02676	N	-1.31476563359579	0.03505	0.1566991	-1.38000522837643	0.03466	0.1617144	0.999591358502492	0.40745	0.743674	0.98306	0	0.662677	0.63036	0	0.630245	0.45026	0	0.579976	0.35079	0	.	.	3.16	-6.31	0.01826	-2.087000	0.01447	-15.353000	0.00361	-1.079000	0.01572	0.000000	0.06391	0.000000	0.08366	0.860000	0.40782	0.433:0.0:0.2743:0.2927	3.555	0.07416	830	0.39242	.;Glutathione S-transferase, N-terminal|Glutathione S-transferase, N-terminal;Glutathione S-transferase, N-terminal|Glutathione S-transferase, N-terminal;.;Glutathione S-transferase, N-terminal|Glutathione S-transferase, N-terminal;Glutathione S-transferase, N-terminal|Glutathione S-transferase, N-terminal;Glutathione S-transferase, N-terminal|Glutathione S-transferase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	4201.98	42	chr1	109669311	.	A	G	4201.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.688;DP=1471;ExcessHet=0.0000;FS=2.514;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.04;MQRankSum=-1.547e+00;QD=14.01;ReadPosRankSum=1.19;SOR=0.557	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr1	109689279	109689279	T	C	exonic	GSTM1	.	nonsynonymous SNV	GSTM1:NM_000561:exon5:c.T314C:p.M105T	.	.	982	537	0	3	0	6	0.00555556	.	.	695968	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	0.773	P	0.459	P	0.000	U	1.000	D	2.92	M	4.54	T	-1.096	T	0.014	T	0.447	-1.045	0.201	2.02	0.419	1.179	6.059	0.162	0.00678492829244	.	.	3.588e-05	0	0	0	0	0	0.0049	0	5.17e-05	8	154602	rs202002774	5.605e-06	0.0016	5.601e-06	5.609e-06	3.859e-05	1.31e-06	8.9e-07	6.4e-06	2.39e-06	0	0	0	0	0	0	3.849e-06	0	3.859e-05	3.734e-05	0.0034	2.426e-05	5.114e-05	0.0003	9.92e-06	4.75e-06	4.63e-05	1.915e-05	0	0	0.0003	0	0	0.0002	0	0	0	0	0.057	0.39097	T	0.284	0.22084	T	0.773	0.44016	P	0.459	0.46380	P	0.000002	0.62929	U	0.055508	0.989061	0.81001	D	3.345	0.91022	M	4.54	0.03809	T	-5.25	0.84035	D	0.412	0.49146	-1.0963	0.04569	T	0.014	0.05465	T	10	0.3916999	0.54938	T	0.006785	0.17925	T	0.162	0.41843	.	.	0.221734844693	0.21761	0.5243859957062466	0.52362	1.16759706748	0.79672	0.455572098494	0.32704	T	0.314375	0.68606	T	-0.100377	0.36361	T	-0.381961	0.35493	T	0.258686060816388	0.23258	T	0.424358	0.12156	T	0.74832326	0.80771	0.5330875	0.73020	0.74832326	0.80772	0.5330875	0.73021	-6.657	0.62168	T	.	.	0.286	0.51840	B	.;.;.;.;.	.;.;.;.;.	1.642350	0.20957	14.99	0.69312899407550344	0.08932	0.77746	0.38263	D	AEFGBI	0.250440	0.37048	N	-0.312240552772623	0.28683	1.584075	-0.430811864685018	0.24098	1.317746	0.846920786302177	0.24971	0.660085	0.49399	0	0.662677	0.63036	0	0.693144	0.63139	0	0.564101	0.26826	0	.	.	3.17	2.02	0.25641	1.663000	0.37045	-0.229000	0.10694	0.660000	0.55035	1.000000	0.71638	0.001000	0.17328	0.021000	0.11733	0.0:0.1286:0.0:0.8714	6.059	0.19054	824	0.40336	Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;.	.	.	.	.	chr1:110231901	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2	98.5	307	chr1	109689279	.	T	C	98.5	.	AC=4;AF=0.200;AN=20;DP=307;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.8135;MLEAC=4;MLEAF=0.200;MQ=56.67;QD=23.96;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	./.	8	2	0	11
chr1	109689287	109689288	CA	-	exonic	GSTM1	.	frameshift deletion	GSTM1:NM_000561:exon5:c.322_323del:p.H108Yfs*13	.	.	988	531	0	3	0	6	0.00561798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1183423000	2.809e-06	0.0005	0	5.622e-06	3.859e-06	4.7e-07	1.8e-07	6.4e-07	2.4e-07	0	0	0	0	0	0	3.859e-06	0	0	2.475e-05	0.0023	0	5.095e-05	0.0001	4.11e-06	1.54e-06	.	.	0	0	0.0001	0	0	0.0002	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	77.81	306	chr1	109689286	.	CCA	C	77.81	.	AC=2;AF=0.111;AN=18;DP=306;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=0.111;MQ=56.50;QD=28.24;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	./.	8	1	0	12
chr1	109689289	109689289	-	GG	exonic	GSTM1	.	frameshift insertion	GSTM1:NM_000561:exon5:c.324_325insGG:p.M109Gfs*6	.	.	989	530	0	3	0	6	0.00562852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1241704212	0	0.0005	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	3.729e-05	0.0023	0	7.672e-05	0.0003	9.9e-06	4.75e-06	4.625e-05	1.913e-05	0	0	0.0003	0	0	0.0002	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	77.81	306	chr1	109689289	.	T	TGG	77.81	.	AC=2;AF=0.111;AN=18;DP=306;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=0.111;MQ=56.50;QD=27.23;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	./.	8	1	0	12
chr1	109689300	109689300	G	T	exonic	GSTM1	.	nonsynonymous SNV	GSTM1:NM_000561:exon5:c.G335T:p.G112V	.	.	990	529	0	3	0	6	0.0056391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.006	B	0.194	N	1.000	N	-1.405	N	3.96	T	-1.050	T	0.001	T	0.487	-2.106	0.006	-6.34	-2.318	-4.127	5.922	0.136	0.00254084323904	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1179816349	0	0.0005	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	2.48e-05	0.0020	2.416e-05	2.547e-05	0.0001	4.12e-06	1.54e-06	.	.	3.525e-05	0	0.0001	0	0	0	0	0	0	0	0.972	0.02568	T	1.0	0.05727	T	0.001	0.07471	B	0.006	0.12133	B	0.193539	0.16783	N	0.517604	1	0.08975	N	-0.695	0.01866	N	3.96	0.03624	T	1.55	0.01787	N	0.221	0.24758	-1.0500	0.14397	T	0.001	0.00222	T	10	0.024888337	0.00701	T	0.002541	0.05093	T	0.136	0.36778	0.372	0.38340	0.0846915920261	0.08053	0.37431931498027177	0.37345	1.22941327989	0.81299	0.297374427319	0.10010	T	0.025902	0.19278	T	-0.263541	0.12489	T	-0.616335	0.11475	T	0.0328750871121883	0.02450	T	0.50475	0.19406	T	0.15011089	0.34189	0.087273456	0.20275	0.15011089	0.34189	0.087273456	0.20275	-3.923	0.33598	T	.	.	0.223	0.45458	B	.;.;.;.;.	.;.;.;.;.	-2.059496	0.00088	0.002	0.40153318879898264	0.02816	0.00211	0.01201	N	AEFDGBI	0.040038	0.05899	N	-2.43387908591156	0.00023	0.0009779129	-2.44140761310503	0.00031	0.001386376	0.995926402434481	0.34412	0.660085	0.49399	0	0.662677	0.63036	0	0.693144	0.63139	0	0.564101	0.26826	0	.	.	3.17	-6.34	0.01808	-2.119000	0.01411	-20.000000	0.00162	-0.841000	0.02792	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2701:0.2566:0.4732	5.922	0.18327	824	0.40336	Glutathione S-transferase, C-terminal|Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal|Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1111	77.89	306	chr1	109689300	.	G	T	77.89	.	AC=2;AF=0.111;AN=18;DP=306;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=0.111;MQ=56.50;QD=32.90;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	./.	8	1	0	12
chr1	109689314	109689314	A	C	exonic	GSTM1	.	nonsynonymous SNV	GSTM1:NM_000561:exon5:c.A349C:p.N117H	.	.	995	526	0	1	0	2	0.00189753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.953	P	0.541	P	0.727	U	1.000	N	2.58	M	4.47	T	-0.986	T	0.013	T	0.225	2.271	13.55	2.03	0.425	2.732	6.008	0.164	0.0035593207228	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1363667431	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.238e-05	0.0008	0	2.543e-05	0.0001	0	0	.	.	0	0	0.0001	0	0	0	0	0	0	0	0.007	0.61437	D	0.027	0.57104	D	0.953	0.54283	P	0.541	0.48869	P	0.726851	0.06346	U	1.173350	1	0.81001	D	2.535	0.73915	M	4.47	0.04228	T	-2.55	0.56787	D	0.214	0.30233	-0.9856	0.33687	T	0.013	0.05321	T	10	0.23352018	0.40371	T	0.003559	0.08123	T	0.164	0.42212	0.534	0.64293	0.224531998449	0.22054	0.4104308232327156	0.40959	1.06697471988	0.76656	0.264495611191	0.05438	T	0.137855	0.47102	T	-0.193259	0.21780	T	-0.51538	0.20763	T	0.415729910135269	0.29532	T	0.352565	0.08297	T	0.33059093	0.55519	0.15954101	0.37203	0.33059093	0.55519	0.15954101	0.37203	-9.012	0.72693	D	.	.	0.111	0.21728	B	.;.;.;.;.	.;.;.;.;.	2.041384	0.25950	16.94	0.9905595212720979	0.51367	0.87273	0.46762	D	AEFDGBI	0.292070	0.40304	N	-0.258970255628518	0.30745	1.71732	-0.390145311047094	0.25288	1.389861	0.799511939276101	0.24161	0.660085	0.49399	0	0.662677	0.63036	0	0.693144	0.63139	0	0.564101	0.26826	0	.	.	3.17	2.03	0.25714	2.245000	0.42784	2.689000	0.34074	0.750000	0.87069	0.958000	0.33488	0.003000	0.18671	0.004000	0.06068	0.871:0.0:0.129:0.0	6.008	0.18785	824	0.40336	Glutathione S-transferase, C-terminal|Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal|Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1111	77.89	306	chr1	109689314	.	A	C	77.89	.	AC=2;AF=0.111;AN=18;DP=306;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=0.111;MQ=56.50;QD=36.74;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	./.	8	1	0	12
chr1	109758052	109758052	G	T	exonic	EPS8L3	.	nonsynonymous SNV	EPS8L3:NM_001319952:exon8:c.C625A:p.L209M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.000	D	1.000	D	2.64	M	0.99	T	0.157	D	0.571	D	0.578	2.544	14.47	3.37	0.592	2.160	9.683	0.449	0.0732947253702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	1.0	0.90584	D	0.999	0.92359	D	0.000181	0.48115	D	0.096993	0.999774	0.48980	D	2.52	0.73523	M	0.99	0.81318	T	-1.93	0.44852	N	0.648	0.65930	0.157	0.85178	D	0.571	0.84499	D	10	0.50233066	0.61620	D	0.073295	0.71752	D	0.449	0.75004	0.377	0.39156	0.654265926928	0.65138	0.45954651212334396	0.45872	0.464151656915	0.45893	0.500180602074	0.38853	T	0.138371	0.47182	T	0.131113	0.67469	D	-0.0494422	0.67060	D	0.983422756195068	0.75096	D	0.679332	0.28809	T	0.4613492	0.64755	0.4627329	0.68807	0.4613492	0.64755	0.4627329	0.68808	-6.831	0.53712	T	0.8458529850787996	0.91327	0.288	0.52010	B	.;.;.	.;.;.	4.003166	0.59000	24.0	0.9945025874216793	0.65223	0.90144	0.51092	D	AEFBI	0.327908	0.42873	N	0.295084464084936	0.55900	3.75404	0.189722915797704	0.49282	3.133355	0.957796685293268	0.28325	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.24	3.37	0.37692	2.505000	0.45084	5.615000	0.49067	-0.105000	0.15698	0.996000	0.39380	1.000000	0.68203	0.918000	0.45347	0.1659:0.0:0.8341:0.0	9.683	0.39243	564	0.70960	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	70.09	37	chr1	109758052	.	G	T	70.09	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-9.510e-01;DP=838;ExcessHet=0.1072;FS=26.116;InbreedingCoeff=-0.0437;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.69;ReadPosRankSum=0.866;SOR=4.499	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,102,1530	19	0	2	0
chr1	110222977	110222977	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C692G:p.A231G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.727	P	0.3	B	0.001	D	0.994	D	1.305	L	-4.19	D	0.589	D	0.723	D	0.404	2.090	12.95	4.88	2.425	3.659	11.857	0.456	0.0722916072849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0034	0.0008	0.0006	0.0008	0.0007	0.0006	0.0008	0.0008	0.0008	0	0.0003	0.0002	1.877e-05	0.0002	0.0008	0.0008	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.315	0.21144	T	0.051	0.42493	B	0.157	0.41053	B	0.000921	0.41028	D	0.275191	0.99437	0.42258	D	2.415	0.69758	M	-4.19	0.96908	D	-2.8	0.59226	D	0.438	0.47672	0.589	0.91750	D	0.723	0.90514	D	10	0.35339242	0.52146	T	0.072292	0.71493	D	0.456	0.75483	0.363	0.36874	0.993177892102	0.99310	0.7526387987383419	0.75210	1.08132311467	0.77145	0.672360956669	0.63174	T	0.667086	0.90076	D	0.175355	0.71615	D	0.0141088	0.71248	D	0.842766284942627	0.49555	D	0.923008	0.74652	D	0.2548791	0.48519	0.22605044	0.47570	0.2548791	0.48519	0.22605044	0.47569	-8.263	0.63102	D	.	.	0.237	0.47944	B	.;.;.	.;.;.	3.598856	0.50823	23.0	0.99047415397653182	0.51162	0.96210	0.68040	D	AEFDGBI	0.477094	0.52023	N	0.0886515093145786	0.45935	2.841749	0.218624017239798	0.50879	3.275622	0.993656479131254	0.33302	0.651	0.46895	0	0.588066	0.40923	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.88	4.88	0.63131	2.965000	0.48892	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.9187:0.0:0.0813	11.857	0.51719	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2812	1718.31	106	chr1	110222977	.	C	G	1718.31	.	AC=9;AF=0.281;AN=32;BaseQRankSum=-2.042e+00;DP=2418;ExcessHet=4.7172;FS=80.588;InbreedingCoeff=-0.3827;MLEAC=11;MLEAF=0.344;MQ=60.00;MQRankSum=0.00;QD=1.44;ReadPosRankSum=1.63;SOR=11.116	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,23:127:99:0|1:110222977_C_G:161,0,3540:110222977	7	0	9	5
chr1	110222980	110222980	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C695G:p.S232C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.981	D	0.000	D	1.000	D	2.695	M	-4.48	D	1.099	D	0.949	D	0.846	3.899	19.82	4.88	2.425	7.818	18.385	0.929	0.40933610176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.636e-05	0.0009	7.295e-05	5.971e-05	8.013e-05	5.553e-05	5.161e-05	6.603e-05	6.157e-05	3.015e-05	0	0	2.525e-05	0	0	8.013e-05	6.68e-05	2.327e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.992	0.90584	D	0.945	0.73362	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.905	0.96153	H	-4.48	0.97606	D	-4.53	0.78388	D	0.831	0.82660	1.099	0.99607	D	0.949	0.98331	D	10	0.8837731	0.87697	D	0.409336	0.93564	D	0.929	0.98304	0.653	0.79068	0.998239969463	0.99822	0.9428938060723817	0.94271	2.16590570783	0.95413	0.900061309338	0.96447	D	0.865354	0.97046	D	0.507574	0.94527	D	0.491319	0.94446	D	0.996615469455719	0.89714	D	0.968103	0.88413	D	0.81521255	0.84899	0.67973554	0.81184	0.81521255	0.84900	0.67973554	0.81185	-14.23	0.93792	D	.	.	0.990	0.93569	P	.;.;.	.;.;.	5.345809	0.89688	31	0.99023122748486747	0.50634	0.99055	0.90567	D	AEFDGBI	0.873031	0.79518	D	0.820546623686913	0.87372	9.195578	0.766985295263051	0.87421	9.215925	0.999999999988739	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.88	4.88	0.63131	7.905000	0.86479	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.385	0.90408	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2	1638.75	109	chr1	110222980	.	C	G	1638.75	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-3.817e+00;DP=2206;ExcessHet=3.5521;FS=69.990;InbreedingCoeff=-0.2544;MLEAC=8;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=1.50;ReadPosRankSum=1.87;SOR=10.509	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,23:128:99:0|1:110222977_C_G:158,0,3547:110222977	12	0	8	1
chr1	110222982	110222982	C	T	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C697T:p.L233F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.995	D	0.000	D	1.000	D	0.945	L	-4.56	D	1.064	D	0.913	D	0.593	4.139	21.4	4.88	2.425	7.818	18.385	0.748	0.257215744657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.036	0.52060	D	0.092	0.67487	B	0.248	0.65830	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	-4.56	0.97772	D	-2.92	0.61129	D	0.71	0.71321	1.064	0.98441	D	0.913	0.97120	D	10	0.82669085	0.81846	D	0.257216	0.89360	D	0.748	0.91328	0.51	0.60693	0.998798673634	0.99879	0.8353798834876841	0.83497	2.2713391689	0.96273	0.879670739174	0.93916	D	0.684204	0.90757	D	0.250026	0.78605	D	0.121369	0.78326	D	0.976836979389191	0.71561	D	0.976702	0.93381	D	0.6352031	0.74575	0.47092855	0.69323	0.6352031	0.74577	0.47092855	0.69323	-10.787	0.78477	D	.	.	0.984	0.92685	P	.;.;.	.;.;.	4.840138	0.79009	27.0	0.99871710190157814	0.94902	0.98768	0.86602	D	AEFDGBI	0.882603	0.81085	D	0.464917858942242	0.65055	4.774502	0.528151035303576	0.69893	5.425667	0.999999999988739	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.88	4.88	0.63131	6.148000	0.71557	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.385	0.90408	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	560.11	39	chr1	110222982	.	C	T	560.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.570e+00;DP=1251;ExcessHet=0.1072;FS=98.421;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=1.83;ReadPosRankSum=1.62;SOR=7.063	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1530	19	0	2	0
chr1	110232447	110232447	G	C	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001377331:exon3:c.G1109C:p.G370A,	.	.	445	1067	10	0	0	10	0.00466418	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs985085514	0.0003	0.0003	0.0002	0.0003	0.0039	0.0002	0.0002	0.0025	0.0021	0.0002	0.0002	0	0	0.0003	0.0039	0.0001	0.0006	0.0018	0.0002	0.0002	5.139e-05	0.0003	0.0017	0.0001	9.696e-05	0.0008	0.0006	7.219e-05	0	0.0001	0	0	0	0.0034	0.0001	0.0005	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	431.98	26	chr1	110232447	.	G	C	431.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.931e+00;DP=612;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.09;ReadPosRankSum=0.525;SOR=0.452	GT:AD:DP:GQ:PL	0/0:23,0:23:63:0,63,945	20	0	1	0
chr1	110341408	110341408	C	T	exonic	RBM15	.	nonsynonymous SNV	RBM15:NM_001201545:exon1:c.C2003T:p.A668V	Megakaryoblastic leukemia, acute	.	422	1039	57	4	0	65	0.0303313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.0	B	0.0	B	0.495	N	1.000	N	0	N	2.2	T	-0.929	T	0.009	T	0.077	0.789	8.160	0.956	0.026	0.865	8.347	0.027	.	0.0048	0.00559105	0.0061	0.0010	0.0040	0	0.0030	0.0067	0.0077	0.0129	0.0059572	921	154602	rs150900331	0.0060	0.0060	0.0056	0.0064	0.0229	0.0059	0.0058	0.0197	0.0185	0.0011	0.0042	0.0147	0	0.0034	0.0229	0.0056	0.0073	0.0127	0.0051	0.0051	0.0049	0.0052	0.0137	0.0048	0.0046	0.0110	0.0101	0.0009	0.0033	0.0054	0.0124	0.0002	0.0031	0.0238	0.0071	0.0076	0.0137	0.117	0.28271	T	0.312	0.19599	T	0.0	0.02946	B	0.0	0.01387	B	0.494839	0.12016	N	0.710757	1	0.08975	N	0.345	0.11182	N	2.2	0.18570	T	-1.7	0.40468	N	0.055	0.03175	-0.9287	0.44328	T	0.009	0.03227	T	10	0.0030899048	0.00051	T	.	.	.	0.027	0.05988	.	.	0.117191471859	0.11215	0.2182879860972043	0.21744	0.713490700197	0.61819	0.405892670155	0.25888	T	0.297953	0.67053	T	-0.665341	0.00058	T	-0.717462	0.04919	T	0.00200101687308719	0.00021	T	0.679332	0.28809	T	0.04694136	0.07941	0.08194425	0.18665	0.04694136	0.07941	0.08194425	0.18664	-4.584	0.32322	T	.	.	0.073	0.08272	B	.;.;.;.;.	.;.;.;.;.	1.796698	0.22840	15.78	0.95988238114539981	0.28380	0.33658	0.24881	N	ALL	0.181846	0.30916	N	-1.0320615013265	0.07945	0.3707962	-0.968512324056755	0.10497	0.529055	0.999999987827702	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.662433	0.64102	0	.	.	4.87	0.956	0.18731	0.682000	0.25015	0.428000	0.18294	-0.182000	0.10109	0.001000	0.13787	0.031000	0.21272	0.986000	0.61781	0.0:0.6211:0.0:0.3789	8.347	0.31441	872	0.31118	.;.;.;.;.	LAMTOR5	Skin_Not_Sun_Exposed_Suprapubic	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1843.98	39	chr1	110341408	.	C	T	1843.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.509e+00;DP=983;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.72;ReadPosRankSum=0.184;SOR=0.666	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1120	20	0	1	0
chr1	110894978	110894978	A	G	exonic	CD53	.	nonsynonymous SNV	CD53:NM_000560:exon5:c.A346G:p.K116E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.458	N	1.000	N	0.035	N	-2.15	D	-0.902	T	0.119	T	0.056	-1.274	0.044	0.353	0.284	-0.118	4.658	0.125	0.014079922691	.	.	2.472e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs780511824	2.6e-05	2.599e-05	1.634e-05	3.576e-05	0.0004	1.933e-05	1.692e-05	0.0003	0.0003	0	0	0	0	0	0	8.995e-07	4.969e-05	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.825	0.02921	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.457676	0.12430	N	0.791165	1	0.08975	N	-0.59	0.02258	N	-2.15	0.86481	D	0.2	0.04861	N	0.122	0.11340	-0.9019	0.47792	T	0.119	0.41604	T	10	0.034025162	0.01596	T	0.01408	0.33954	T	0.125	0.34456	0.387	0.40788	0.49179695788	0.48811	0.3720340806662581	0.37117	0.335353309124	0.35541	0.271407842636	0.06325	T	0.189028	0.54312	T	-0.419251	0.01729	T	-0.539678	0.18327	T	0.0176800359101549	0.00499	T	0.446155	0.12501	T	0.10889673	0.25746	0.052561197	0.08682	0.10889673	0.25746	0.052561197	0.08681	-3.571	0.17438	T	.	.	0.096	0.15832	B	.;.	.;.	-0.075839	0.03788	0.798	0.26609314296154113	0.01283	0.00952	0.03663	N	AEFBCI	0.052341	0.09333	N	-1.50490776676171	0.01817	0.07966102	-1.44848452661624	0.02784	0.1286741	0.990117858849134	0.32043	0.645754	0.44609	0	0.696144	0.67643	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.46	0.353	0.15294	-0.095000	0.11043	0.453000	0.18541	-0.818000	0.02990	0.001000	0.13787	0.004000	0.18990	0.015000	0.10482	0.3316:0.1557:0.5127:0.0	4.658	0.12014	507	0.75469	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1569.98	35	chr1	110894978	.	A	G	1569.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.150e-01;DP=815;ExcessHet=0.0000;FS=3.376;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.30;ReadPosRankSum=0.248;SOR=0.439	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1204	20	0	1	0
chr1	110952145	110952145	G	T	exonic	LRIF1	.	nonsynonymous SNV	LRIF1:NM_018372:exon2:c.C739A:p.Q247K,	.	.	433	1086	3	0	0	3	0.00137931	.	.	3446082	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.017	B	0.033	B	0.017	N	1.000	D	0.46	N	1.75	T	-1.088	T	0.022	T	0.182	3.010	16.04	4.4	2.679	4.597	13.812	0.041	0.00516938152182	7.7e-05	.	8.239e-05	0	0	0.0001	0	0.0001	0	0	6.47e-05	10	154602	rs139818648	4.31e-05	4.309e-05	2.722e-05	5.913e-05	0.0007	3.442e-05	3.129e-05	0.0003	0.0002	0.0004	0	0.0003	0	0	0.0007	2.518e-05	0.0002	0	5.911e-05	5.906e-05	8.997e-05	2.686e-05	6.544e-05	3.076e-05	2.209e-05	1.972e-05	1.125e-05	4.812e-05	0	6.544e-05	0.0003	0	0	0.0034	5.881e-05	0	0	0.092	0.31682	T	0.154	0.32040	T	0.017	0.17573	B	0.033	0.22329	B	0.016553	0.27949	N	0.357109	0.942426	0.81001	D	1.385	0.34509	L	1.75	0.26152	T	-2.03	0.46673	N	0.137	0.13484	-1.0882	0.05839	T	0.022	0.09375	T	10	0.099448025	0.18047	T	0.005169	0.13156	T	0.041	0.10877	.	.	0.218112801441	0.21410	0.2897060030115049	0.28883	0.22471395681	0.25003	0.396102845669	0.24526	T	0.063159	0.32104	T	-0.348824	0.04801	T	-0.502169	0.22123	T	0.0601496373478439	0.07193	T	0.633137	0.24745	T	0.19367136	0.41087	0.150084	0.35411	0.19367136	0.41087	0.150084	0.35410	-4.234	0.27241	T	0.34492134097300914	0.44248	0.086	0.10787	B	.	.	3.000738	0.40094	21.1	0.9908407680674246	0.52051	0.96067	0.67383	D	AEFDBI	0.567170	0.57286	D	-0.0505105069669052	0.39580	2.336334	0.156032078111303	0.47463	2.976119	0.999656564524348	0.41424	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.37	4.4	0.52402	4.695000	0.61453	9.698000	0.81294	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8467:0.1533	13.812	0.62762	625	0.65529	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1705.98	34	chr1	110952145	.	G	T	1705.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.149e+00;DP=879;ExcessHet=0.0000;FS=2.792;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.22;ReadPosRankSum=-7.970e-01;SOR=0.947	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1422	20	0	1	0
chr1	110952567	110952567	T	A	exonic	LRIF1	.	nonsynonymous SNV	LRIF1:NM_018372:exon2:c.A317T:p.Y106F,	.	.	.	.	.	.	.	.	.	.	.	2365618	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.66	T	0.543	P	0.266	B	0.016	N	1.000	D	0.895	L	1.82	T	-1.044	T	0.016	T	0.397	1.627	11.40	4.49	0.932	0.838	5.506	0.067	0.00340824112963	.	.	4.952e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs775748979	2.258e-05	2.257e-05	6.807e-06	3.851e-05	0.0004	1.61e-05	1.417e-05	0.0003	0.0002	0	0	0	0	0	0	0	1.656e-05	0.0004	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.627	0.05198	T	0.677	0.06166	T	0.543	0.37944	P	0.266	0.39732	B	0.016202	0.28038	N	0.289012	1	0.81001	D	2.28	0.64929	M	1.82	0.25018	T	-0.79	0.21860	N	0.33	0.37093	-1.0443	0.16030	T	0.016	0.06711	T	10	0.06645328	0.09116	T	0.003408	0.07664	T	0.067	0.19503	0.34	0.33141	0.307016933798	0.30308	0.1327858640221066	0.13202	0.0626037434861	0.06969	0.383583635092	0.22763	T	0.032232	0.22396	T	-0.376351	0.03285	T	-0.450418	0.27651	T	0.0978820852729629	0.12123	T	0.79872	0.44372	T	0.069882154	0.15346	0.038676057	0.03789	0.069882154	0.15346	0.038676057	0.03789	-2.506	0.05822	T	0.4340435174919164	0.52070	0.131	0.28203	B	.	.	2.036013	0.25880	16.92	0.95880815307040079	0.28073	0.66347	0.33047	D	AEGBI	0.115371	0.22687	N	-0.174736634822617	0.34188	1.948455	-0.0455299860726985	0.37685	2.209816	0.997210722311324	0.35382	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.65	4.49	0.54177	0.780000	0.26421	1.225000	0.25003	-0.178000	0.10482	0.967000	0.34061	1.000000	0.68203	0.997000	0.79791	0.1519:0.0828:0.0:0.7653	5.506	0.16144	629	0.65079	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1909.98	34	chr1	110952567	.	T	A	1909.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.257;DP=854;ExcessHet=0.0000;FS=0.659;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=-9.860e-01;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1422	20	0	1	0
chr1	110952568	110952568	A	C	exonic	LRIF1	.	nonsynonymous SNV	LRIF1:NM_018372:exon2:c.T316G:p.Y106D,	.	.	.	.	.	.	.	.	.	.	.	2365616	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.997	D	0.943	D	0.016	N	1.000	D	0.895	L	1.73	T	-1.083	T	0.066	T	0.907	2.953	15.84	5.65	2.159	3.192	13.821	0.317	0.01766909683	.	.	4.951e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs763115833	2.258e-05	2.257e-05	6.807e-06	3.851e-05	0.0004	1.61e-05	1.417e-05	0.0003	0.0002	0	0	0	0	0	0	0	1.656e-05	0.0004	6.568e-06	6.566e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.016	0.51853	D	0.074	0.42976	T	0.997	0.70673	D	0.943	0.67921	D	0.016202	0.28038	N	0.289012	0.971217	0.81001	D	2.28	0.64929	M	1.73	0.26445	T	-3.86	0.72471	D	0.708	0.71143	-1.0826	0.06852	T	0.066	0.27330	T	10	0.5954114	0.66613	D	0.017669	0.39460	T	0.317	0.63904	0.315	0.29096	0.592571446383	0.58934	0.5351355550400292	0.53438	0.130950047819	0.14771	0.430274397135	0.29245	T	0.188396	0.54230	T	-0.0363441	0.46489	T	0.0379782	0.72796	D	0.303814768791199	0.25161	T	0.630437	0.24556	T	0.37928367	0.59264	0.52274305	0.72427	0.37928367	0.59265	0.52274305	0.72427	-3.876	0.21943	T	0.7124813616847175	0.79288	0.316	0.54243	B	.	.	4.628576	0.73573	26.0	0.99292779004767329	0.58326	0.94044	0.59944	D	AEGBI	0.508271	0.53822	D	0.487321886169435	0.66349	4.939	0.522357542611864	0.69496	5.368867	0.999999666594243	0.74766	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.65	5.65	0.86881	3.045000	0.49528	11.313000	0.92475	0.691000	0.84096	0.979000	0.35152	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.821	0.62813	629	0.65079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1909.98	34	chr1	110952568	.	A	C	1909.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.816e+00;DP=856;ExcessHet=0.0000;FS=0.659;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=-8.780e-01;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1422	20	0	1	0
chr1	111188706	111188706	T	A	exonic	DENND2D	.	nonsynonymous SNV	DENND2D:NM_001271833:exon10:c.A1086T:p.L362F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.659	P	0.468	P	0.055	N	1.000	N	1.59	L	2.41	T	-1.039	T	0.019	T	0.071	2.323	13.73	-2.03	-0.177	-0.040	0.070	0.127	0.0104591924554	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	1.368e-06	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.40573	D	0.106	0.37872	T	0.528	0.40886	P	0.189	0.46719	B	0.054981	0.02067	N	2.093860	1	0.08975	N	2.075	0.57047	M	2.41	0.15492	T	-1.04	0.27259	N	0.105	0.09631	-1.0391	0.17587	T	0.019	0.07986	T	10	0.07910144	0.12685	T	0.010459	0.27023	T	0.127	0.34888	0.297	0.26202	0.228597637076	0.22478	0.19120019605546346	0.19038	0.333487075651	0.35387	0.289087474346	0.08790	T	0.033977	0.23137	T	-0.323894	0.06584	T	-0.703028	0.05662	T	0.334503680467606	0.26405	T	0.40256	0.10281	T	0.054931115	0.10608	0.06998724	0.14814	0.054931115	0.10608	0.06998724	0.14814	-5.484	0.41719	T	.	.	0.075	0.05360	B	.;.	.;.	0.948592	0.13246	9.747	0.98358830570599964	0.40618	0.14298	0.18329	N	AEBHCI	0.087421	0.17725	N	-0.637271308635559	0.17833	0.9209981	-0.791053005050623	0.14714	0.7702835	0.999738348810016	0.42341	0.722319	0.85440	0	0.698795	0.70079	0	0.696353	0.63694	0	0.567892	0.33627	0	.	.	5.44	-2.03	0.06959	-0.281000	0.08489	-0.073000	0.12273	-0.112000	0.15009	0.000000	0.06391	0.009000	0.19889	0.331000	0.25224	0.3165:0.2104:0.1629:0.3103	0.070	0.00019	735	0.53711	Tripartite DENN domain;Tripartite DENN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1118.98	36	chr1	111188706	.	T	A	1118.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.36;ReadPosRankSum=0.355;SOR=0.740	GT:AD:DP:GQ:PL	0/1:59,49:108:99:1133,0,1313	20	0	1	0
chr1	111414627	111414627	C	A	exonic	OVGP1	.	nonsynonymous SNV	OVGP1:NM_002557:exon11:c.G1874T:p.S625I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.316	B	0.038	B	0.000	N	0.933	N	0.69	N	3.48	T	-0.980	T	0.005	T	0.227	3.168	16.60	2.72	0.602	0.013	5.956	0.059	0.00308262394767	7.7e-05	.	3.295e-05	0	0	0	0	1.498e-05	0	0.0002	2.59e-05	4	154602	rs146360764	9.577e-06	9.577e-06	6.806e-06	1.238e-05	0.0001	5.56e-06	4.35e-06	6.246e-05	4.757e-05	0	0	0	0	0	0	2.698e-06	1.656e-05	0.0001	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.007	0.59928	D	0.005	0.72224	D	0.316	0.32901	B	0.038	0.23361	B	0.000000	0.00162	N	37.704400	0.999999	0.08975	N	0.345	0.11182	N	3.48	0.05130	T	-0.52	0.16187	N	0.221	0.24758	-0.9799	0.35025	T	0.005	0.01761	T	10	0.053868234	0.05645	T	0.003083	0.06666	T	0.059	0.16972	.	.	0.444807159249	0.44105	0.24724863682595502	0.24638	0.253141147999	0.27883	0.270830512047	0.06250	T	0.006366	0.05804	T	-0.4423	0.01253	T	-0.613431	0.11708	T	0.150684952735901	0.17158	T	0.411059	0.10645	T	0.23692703	0.46549	0.12750532	0.30691	0.23692703	0.46549	0.12750532	0.30690	-4.715	0.33585	T	.	.	0.093	0.13830	B	.	.	1.726026	0.21973	15.43	0.99399262801408905	0.62702	0.06165	0.12148	N	AEFBI	0.039807	0.05833	N	-0.698223590728346	0.16072	0.8156513	-0.701218085338925	0.16931	0.8979277	0.00102212557221206	0.08137	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.586402	0.36253	0	.	.	4.67	2.72	0.31179	0.118000	0.15436	0.070000	0.14249	0.434000	0.20985	0.000000	0.06391	0.000000	0.08366	0.092000	0.17891	0.2067:0.6912:0.0:0.1022	5.956	0.18511	793	0.45818	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2206.98	61	chr1	111414627	.	C	A	2206.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.227e+00;DP=1527;ExcessHet=0.0000;FS=1.763;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=0.954;SOR=0.564	GT:AD:DP:GQ:PL	0/1:98,95:193:99:2221,0,2412	20	0	1	0
chr1	111477698	111477698	G	A	exonic	C1orf162	.	nonsynonymous SNV	C1orf162:NM_001300835:exon4:c.G163A:p.V55I	.	.	420	1082	19	1	0	21	0.00961098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.046	B	0.011	B	0.095	N	1.000	N	0.55	N	0.75	T	-1.073	T	0.027	T	0.047	1.451	10.79	-2.52	-0.473	0.254	4.289	0.009	0.00409375774602	0.0005	0.00159744	0.0016	0.0002	0.0009	0	0	0.0006	0.0022	0.0090	0.0013907	215	154602	rs140103670	0.0010	0.0010	0.0007	0.0012	0.0082	0.0009	0.0009	0.0077	0.0075	0.0001	0.0006	0.0010	0	0	0.0045	0.0005	0.0011	0.0082	0.0006	0.0006	0.0006	0.0006	0.0069	0.0005	0.0005	0.0050	0.0044	0.0001	0	0.0003	0.0012	0	0	0	0.0006	0.0005	0.0069	0.229	0.18371	T	0.427	0.13832	T	0.046	0.21875	B	0.011	0.15521	B	0.095398	0.02496	N	2.152440	1	0.08975	N	0.69	0.16971	N	0.75	0.50192	T	-0.17	0.09627	N	0.099	0.08088	-1.0725	0.08873	T	0.027	0.11485	T	10	0.0035338998	0.00063	T	0.004094	0.09775	T	0.009	0.00846	.	.	0.0138822411134	0.00435	0.0694724589363589	0.06885	0.417457423283	0.42365	.	.	.	0.002328	0.01720	T	-0.659428	0.00063	T	-0.714026	0.05090	T	0.00108029322057687	0.00010	T	0.322168	0.06550	T	0.035075165	0.04059	0.033002805	0.02125	0.035075165	0.04059	0.033002805	0.02125	-3.601	0.17871	T	.	.	0.112	0.21987	B	.	.	0.585064	0.09533	6.312	0.92389584783126355	0.21800	0.01920	0.05866	N	AEFDBI	0.032020	0.03537	N	-1.30145367959959	0.03659	0.1638355	-1.36204659220269	0.03666	0.1714712	0.999820827371025	0.43622	0.600919	0.35232	0	0.596877	0.49441	0	0.624306	0.44879	0	0.613276	0.41899	0	.	.	4.1	-2.52	0.05978	0.261000	0.18211	1.116000	0.24201	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.5629:0.0:0.2656:0.1714	4.289	0.10313	651	0.62880	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1578.98	38	chr1	111477698	.	G	A	1578.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.181e+00;DP=919;ExcessHet=0.0000;FS=2.301;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=-5.050e-01;SOR=0.503	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr1	111727257	111727257	C	T	exonic	INKA2	.	nonsynonymous SNV	INKA2:NM_019099:exon2:c.G605A:p.R202H	.	.	.	.	.	.	.	.	.	.	.	3267693	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.2	B	0.037	B	0.001	N	1.000	D	0.975	L	.	.	-1.055	T	0.052	T	0.146	3.258	16.93	4.0	1.067	2.193	6.915	0.061	0.00801026463888	.	.	8.244e-06	0	0	0	0	1.5e-05	0	0	2.59e-05	4	154602	rs751736006	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	9.767e-05	0.0001	0.0001	5.974e-05	2.237e-05	0	0.0001	0	0	0.0001	3.312e-05	2.319e-05	3.943e-05	3.94e-05	3.854e-05	4.036e-05	8.82e-05	1.716e-05	1.13e-05	3.762e-05	2.575e-05	0	0	0	0	0	0	0	8.82e-05	0	0	0.003	0.68238	D	0.005	0.72224	D	0.2	0.29645	B	0.025	0.20508	B	0.000819	0.41658	N	0.200696	0.99142	0.81001	D	.	.	.	.	.	.	-2.2	0.49519	N	0.112	0.09914	-1.0552	0.12987	T	0.052	0.22076	T	9	0.13362968	0.25432	T	0.00801	0.21239	T	0.061	0.17616	0.326	0.30873	0.507031862817	0.50341	0.21656222760033142	0.21572	0.287796179006	0.31178	0.455918431282	0.32753	T	0.109903	0.42416	T	-0.243798	0.14869	T	-0.407679	0.32492	T	0.183523014580205	0.19455	T	0.791921	0.43319	T	0.09222254	0.21630	0.09003645	0.21091	0.09222254	0.21630	0.09003645	0.21090	-5.416	0.41073	T	.	.	0.095	0.14933	B	.;.	.;.	4.290773	0.65437	24.8	0.99941830190451009	0.99824	0.72410	0.35443	D	AEFBI	0.278583	0.39283	N	-0.229354386185044	0.31934	1.795707	-0.114482047065265	0.34805	2.006305	0.999967268672986	0.48965	0.634777	0.41761	0	0.633656	0.55848	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	4.91	4.0	0.45673	2.242000	0.42756	2.158000	0.30961	0.469000	0.21855	1.000000	0.71638	1.000000	0.68203	0.555000	0.30293	0.0:0.725:0.0:0.275	6.915	0.23536	571	0.70397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2372.98	41	chr1	111727257	.	C	T	2372.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.457e+00;DP=997;ExcessHet=0.0000;FS=1.833;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=0.118;SOR=0.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,105,1575	20	0	1	0
chr1	111778482	111778482	T	C	exonic	KCND3	.	nonsynonymous SNV	KCND3:NM_001378969:exon6:c.A1472G:p.Y491C	Brugada syndrome 9, Autosomal dominant;Spinocerebellar ataxia 19, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.75	P	0.382	B	0.003	N	1.000	D	0.895	L	-4.12	D	0.522	D	0.719	D	0.81	3.278	17.01	5.09	1.925	5.505	14.524	0.561	0.168000489001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.104	0.38160	T	0.75	0.43260	P	0.382	0.43908	B	0.003094	0.35449	N	0.245148	0.999963	0.81001	D	1.39	0.34934	L	-4.12	0.96716	D	-0.54	0.16598	N	0.853	0.84922	0.522	0.90853	D	0.719	0.90345	D	10	0.7641604	0.76573	D	0.168	0.84622	D	0.561	0.82003	0.467	0.53891	0.902934720084	0.90196	0.3726966051342878	0.37183	0.401922434935	0.41163	0.810818374157	0.83618	D	0.57837	0.86153	D	0.368364	0.87910	D	0.291353	0.87755	D	0.890682220458984	0.54153	D	0.820618	0.47957	T	0.25966105	0.49020	0.3342649	0.59254	0.25966105	0.49020	0.3342649	0.59254	-4.192	0.26635	T	.	.	0.075	0.05579	B	.	.	4.364717	0.67148	25.1	0.9961283887482002	0.74932	0.74394	0.36393	D	AEFDGBCIJ	0.714434	0.66691	D	0.264253326775158	0.54348	3.60053	0.357373602946221	0.58954	4.069276	0.999999999984727	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.315538	0.05692	2	0.613276	0.41899	0	.	.	5.09	5.09	0.68647	5.505000	0.66698	7.922000	0.74576	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	14.524	0.67456	888	0.27761	Potassium channel, voltage dependent, Kv4, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	713.98	33	chr1	111778482	.	T	C	713.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.320e-01;DP=783;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=-2.200e-01;SOR=0.759	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1117	20	0	1	0
chr1	112667144	112667144	C	T	exonic	CAPZA1	.	nonsynonymous SNV	CAPZA1:NM_006135:exon8:c.C656T:p.S219L,	.	.	498	1022	2	0	0	2	0.000977517	0.7209	0.532	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.055	B	0.035	B	0.000	D	0.999	D	2.34	M	.	.	-0.685	T	0.210	T	0.318	2.637	14.78	4.66	2.293	4.489	17.488	0.352	.	.	0.00519169	0.0026	0	0.0003	0.0001	0	3.002e-05	0.0011	0.0190	0.0022898	354	154602	rs555597264	0.0012	0.0012	0.0007	0.0016	0.0183	0.0011	0.0011	0.0175	0.0172	6.024e-05	2.281e-05	0	2.533e-05	0	0.0005	2.634e-05	0.0011	0.0183	0.0008	0.0008	0.0004	0.0011	0.0228	0.0007	0.0006	0.0193	0.0180	4.811e-05	0	0	0	0.0002	0	0	5.88e-05	0	0.0228	0.03	0.45393	D	0.19	0.28482	T	0.055	0.22733	B	0.035	0.22741	B	0.000002	0.62929	D	0.061532	0.998643	0.45212	D	2.675	0.78361	M	.	.	.	-3.52	0.68412	D	0.483	0.51761	-0.6849	0.61146	T	0.210	0.57014	T	9	0.0074812174	0.00170	T	.	.	.	0.352	0.67326	0.579	0.70476	0.345212716602	0.34136	0.3145990619777249	0.31372	0.244053856826	0.26914	0.529411792755	0.42951	T	0.167073	0.51356	T	-0.343425	0.05154	T	-0.251803	0.49639	T	0.123800554390446	0.14798	T	0.893011	0.63001	D	0.36710855	0.58370	0.24124739	0.49517	0.36710855	0.58371	0.24124739	0.49516	-3.726	0.19703	T	.	.	0.091	0.13268	B	.	.	4.983680	0.82574	27.8	0.99652011843380861	0.77380	0.96299	0.68462	D	AEFDGBHI	0.595305	0.58991	D	0.037939382134615	0.43589	2.648835	0.127452901128531	0.45960	2.849907	0.872273674984979	0.25442	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.66	4.66	0.57857	4.649000	0.61129	7.654000	0.63860	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.903000	0.43903	0.0:1.0:0.0:0.0	17.488	0.87588	896	0.25515	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1450.98	43	chr1	112667144	.	C	T	1450.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.800e-01;DP=843;ExcessHet=0.0000;FS=3.998;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.44;ReadPosRankSum=-5.700e-01;SOR=0.555	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1309	20	0	1	0
chr1	112694590	112694590	C	T	exonic	MOV10	.	nonsynonymous SNV	MOV10:NM_001369507:exon8:c.C1433T:p.P478L	.	.	424	1097	1	0	0	1	0.000455581	.	.	3359008	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.7	T	0.0	B	0.002	B	0.173	N	1.000	N	0.55	N	-2.97	D	-0.806	T	0.322	T	0.079	0.506	6.746	4.18	1.150	3.049	10.528	0.218	0.0496357856903	7.7e-05	.	0.0002	0	8.74e-05	0	0	0.0002	0.0023	0.0003	0.0001488	23	154602	rs200051144	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0002	0.0001	2.99e-05	0.0002	0	0	0	0.0005	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	2.405e-05	0	0.0003	0	0	0	0	0.0004	0	0.0002	0.136	0.26085	T	0.166	0.30828	T	0.0	0.02946	B	0.001	0.04355	B	0.173459	0.17307	N	0.607210	1	0.08975	N	1.79	0.46772	L	-2.97	0.92108	D	-0.9	0.24244	N	0.06	0.03283	-0.8062	0.54778	T	0.322	0.69099	T	10	0.052493483	0.05293	T	0.049636	0.63897	D	0.218	0.51265	.	.	0.465138348474	0.46142	0.5418451886195179	0.54109	0.648252932563	0.58176	0.353148460388	0.18384	T	0.273883	0.64635	T	-0.29301	0.09336	T	-0.342509	0.40062	T	0.0158592742975957	0.00372	T	0.685131	0.30359	T	0.03444967	0.03867	0.029570375	0.01309	0.03444967	0.03867	0.029570375	0.01309	-5.454	0.41436	T	.	.	0.111	0.25133	B	.;.;.;.	.;.;.;.	2.024808	0.25732	16.87	0.76941267509963263	0.11671	0.34900	0.25176	N	AEFBI	0.196268	0.32325	N	-0.938399308271213	0.09955	0.4734748	-0.853345119118518	0.13207	0.6838848	0.968897837038356	0.29086	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.09	4.18	0.48473	1.339000	0.33489	4.897000	0.45822	-0.182000	0.10109	0.001000	0.13787	0.599000	0.25709	0.012000	0.09680	0.0:0.8415:0.0:0.1585	10.528	0.44151	909	0.22467	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1068.98	34	chr1	112694590	.	C	T	1068.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=875;ExcessHet=0.0000;FS=1.728;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.37;ReadPosRankSum=0.015;SOR=0.498	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1380	20	0	1	0
chr1	112713520	112713520	G	C	exonic	PPM1J	.	nonsynonymous SNV	PPM1J:NM_005167:exon2:c.C418G:p.P140A,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.001	B	0.002	B	0.782	N	0.999	N	1.245	L	1.57	T	-0.945	T	0.019	T	0.141	1.361	10.48	2.08	0.141	0.352	7.475	0.032	0.00932765470745	.	0.000399361	0.0002	0	0	0	0	0	0	0.0018	0.000207	32	154602	rs551116956	9.853e-05	9.85e-05	4.766e-05	0.0001	0.0017	8.513e-05	7.983e-05	0.0014	0.0014	0	0	0	0	0	0	8.995e-07	0	0.0017	6.573e-05	6.562e-05	2.572e-05	0.0001	0.0021	3.518e-05	2.617e-05	0.0011	0.0009	0	0	0	0	0	0	0	0	0	0.0021	0.067	0.35918	T	0.106	0.37872	T	0.001	0.07471	B	0.002	0.06944	B	0.781502	0.09467	N	0.912515	1	0.08975	N	1.445	0.36358	L	1.57	0.29342	T	-2.63	0.56466	D	0.179	0.19325	-0.9448	0.41846	T	0.019	0.08079	T	10	0.008260429	0.00187	T	0.009328	0.24483	T	0.032	0.07718	0.344	0.33788	0.232513804876	0.22884	0.41065513961308847	0.40981	0.0747858381331	0.08389	0.419930994511	0.27826	T	0.077564	0.35685	T	-0.567317	0.00230	T	-0.612315	0.11798	T	0.0240675428783351	0.01153	T	0.634137	0.24845	T	0.05252941	0.09811	0.070107475	0.14853	0.05252941	0.09811	0.070107475	0.14853	-3.567	0.17381	T	.	.	0.061	0.01179	B	.	.	0.732977	0.11023	7.679	0.69464747763251555	0.08981	0.11957	0.16970	N	AEFDBCI	0.106987	0.21329	N	-0.957929310683711	0.09515	0.4507051	-0.969941451167493	0.10464	0.527185	0.999987993456731	0.51787	0.766844	0.99359	0	0.624146	0.53433	0	0.851219	0.99655	0	0.655142	0.61905	0	.	.	5.13	2.08	0.26079	0.888000	0.27904	2.748000	0.34514	0.676000	0.76740	0.304000	0.25361	0.998000	0.33993	0.002000	0.04165	0.0901:0.3212:0.5887:0.0	7.475	0.26539	885	0.28214	PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1838.98	33	chr1	112713520	.	G	C	1838.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.613;DP=867;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=-2.790e+00;SOR=0.727	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1405	20	0	1	0
chr1	112913901	112913901	C	G	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493C:p.S498T	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.019	B	0.006	B	0.000	N	1.000	D	0.55	N	1.89	T	-0.961	T	0.016	T	0.249	0.420	6.281	2.7	0.841	0.795	6.367	0.050	0.00694427549183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.514e-05	0.0014	1.781e-05	1.244e-05	1.721e-05	9.91e-06	8.47e-06	1.101e-05	8.87e-06	0	0	0	0	0	0	1.721e-05	3.328e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.10278	T	0.345	0.17750	T	0.019	0.17989	B	0.006	0.12133	B	0.000194	0.00507	N	3.613670	0.514651	0.31619	N	0.55	0.14455	N	1.89	0.23688	T	0.05	0.06369	N	0.31	0.34981	-0.9605	0.39087	T	0.016	0.06377	T	10	0.06500685	0.08706	T	0.006944	0.18374	T	0.050	0.13987	0.136	0.04008	0.206203607746	0.20212	0.25754088764728017	0.25668	0.358157990037	0.37530	0.395360171795	0.24422	T	0.083635	0.37098	T	-0.185342	0.22944	T	-0.504008	0.21933	T	0.148207157850266	0.16960	T	.	.	.	0.09177888	0.21514	0.055201277	0.09640	0.09177888	0.21514	0.055201277	0.09639	-2.577	0.06330	T	.	.	0.073	0.04558	B	.;.	.;.	1.617359	0.20662	14.85	0.80462772014093309	0.13214	0.95587	0.65318	D	AEFBI	0.400058	0.47510	N	-0.522399086346691	0.21356	1.132814	-0.357056128764837	0.26292	1.451256	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1360.52	107	chr1	112913901	.	C	G,T	1360.52	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-3.601e+00;DP=1739;ExcessHet=4.7172;FS=69.726;InbreedingCoeff=-0.2738;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=1.49;ReadPosRankSum=0.901;SOR=9.894	GT:AD:DP:GQ:PL	0/1:80,21,0:101:99:193,0,1841,425,1901,2325	12	0	8	0
chr1	112913901	112913901	C	T	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493A:p.S498N	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.626	P	0.219	B	0.000	N	1.000	D	0.55	N	1.87	T	-1.064	T	0.021	T	0.104	1.964	12.53	2.7	0.841	0.795	6.367	0.041	0.0129096832338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.36912	T	0.114	0.36765	T	0.626	0.40074	P	0.219	0.37734	B	0.000194	0.00507	N	3.613670	0.542923	0.32069	D	0.55	0.14455	N	1.87	0.24085	T	-0.51	0.15986	N	0.234	0.26354	-1.0643	0.10713	T	0.021	0.08686	T	10	0.10610628	0.19646	T	0.01291	0.31889	T	0.041	0.10877	0.121	0.02793	0.200294437569	0.19612	0.24899618109934885	0.24813	0.315069041011	0.33789	0.411491125822	0.26663	T	0.106424	0.41776	T	-0.242444	0.15039	T	-0.58603	0.14011	T	0.547992467880249	0.34402	D	.	.	.	0.096315265	0.22684	0.08850896	0.20641	0.096315265	0.22683	0.08850896	0.20641	-4.187	0.26563	T	.	.	0.102	0.18206	B	.;.	.;.	1.870468	0.23763	16.14	0.98071642327873421	0.38030	0.50322	0.28636	D	AEFBI	0.126630	0.24365	N	-0.162150398385312	0.34719	1.985187	-0.0858474992985718	0.35975	2.087787	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1360.52	107	chr1	112913901	.	C	G,T	1360.52	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-3.601e+00;DP=1739;ExcessHet=4.7172;FS=69.726;InbreedingCoeff=-0.2738;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=1.49;ReadPosRankSum=0.901;SOR=9.894	GT:AD:DP:GQ:PL	0/1:80,21,0:101:99:193,0,1841,425,1901,2325	12	0	8	0
chr1	113590590	113590590	G	C	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.G870C:p.E290D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.63	P	0.217	B	0.000	D	0.643	D	0.49	N	2.69	T	-1.008	T	0.007	T	0.306	-1.899	0.008	-0.268	-0.075	-0.116	11.346	0.122	0.00487564636394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0045	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	2.242e-05	0	5.08e-05	0	0	0.0002	0.0002	7.081e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.03085	T	1.0	0.04079	T	0.069	0.23796	B	0.051	0.25434	B	0.000007	0.62929	D	0.142947	0.643051	0.32894	D	1.54	0.38927	L	2.69	0.14783	T	1.32	0.01107	N	0.162	0.19995	-1.0079	0.27572	T	0.007	0.02399	T	10	0.03753224	0.02113	T	0.004876	0.12224	T	0.122	0.33800	0.268	0.21576	0.143184338766	0.13958	0.2702843826030742	0.26941	0.165123761365	0.18624	0.563049614429	0.47698	T	0.039485	0.25206	T	-0.238336	0.15562	T	-0.580129	0.14534	T	0.164513646206508	0.18199	T	0.848015	0.52922	T	0.07584618	0.17116	0.059709318	0.11252	0.07584618	0.17115	0.059709318	0.11251	-8.114	0.61845	D	.	.	0.077	0.06205	B	.;.;.;.	.;.;.;.	2.279428	0.29141	18.03	0.061631012715648595	0.00020	0.49120	0.28361	N	AEFDI	0.108624	0.21602	N	-0.944723580309123	0.09811	0.4660299	-0.857016727595564	0.13119	0.6788146	4.96757964133831E-4	0.07150	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	-0.268	0.12295	-0.048000	0.11898	1.843000	0.29202	-0.796000	0.03208	0.834000	0.30193	1.000000	0.68203	0.976000	0.56436	0.5848:0.0:0.4152:0.0	11.346	0.48798	538	0.73119	.;Guanylate kinase/L-type calcium channel beta subunit;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.25	654.71	83	chr1	113590590	.	G	C	654.71	.	AC=3;AF=0.250;AN=12;BaseQRankSum=0.109;DP=1286;ExcessHet=0.3300;FS=262.934;InbreedingCoeff=-0.3263;MLEAC=5;MLEAF=0.417;MQ=60.00;MQRankSum=0.00;QD=2.09;ReadPosRankSum=1.54;SOR=9.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,35:115:99:0|1:113590590_G_C:372,0,2040:113590590	3	0	3	15
chr1	113622809	113622809	T	C	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon9:c.T1175C:p.M392T	.	.	436	1082	4	0	0	4	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.0	B	0.0	B	0.452	N	1.000	N	-0.345	N	2.69	T	-0.916	T	0.006	T	0.052	-0.033	3.843	-0.794	-0.385	0.566	13.943	0.039	0.00514232681056	0.0002	0.000199681	0.0004	0	8.649e-05	0.0001	0	0.0002	0	0.0019	0.0003622	56	154602	rs370838779	0.0003	0.0003	0.0003	0.0004	0.0015	0.0003	0.0003	0.0012	0.0012	0	0.0001	0	0	0	0.0009	0.0003	0.0003	0.0015	0.0002	0.0002	0.0003	0.0002	0.0012	0.0002	0.0002	0.0005	0.0004	7.219e-05	0	0.0001	0	0	9.43e-05	0	0.0004	0.0005	0.0012	0.399	0.10553	T	0.431	0.13673	T	0.0	0.02946	B	0.0	0.01387	B	0.452152	0.04821	N	1.272640	1	0.08975	N	-0.895	0.01383	N	2.69	0.13916	T	0.03	0.10308	N	0.107	0.09207	-0.9161	0.46076	T	0.006	0.01981	T	10	0.0063304007	0.00143	T	0.005142	0.13063	T	0.039	0.10176	.	.	0.0675242888579	0.06100	0.23303219202396558	0.23218	0.182341574445	0.20497	0.244348168373	0.03196	T	.	.	.	-0.700797	0.00036	T	-0.786687	0.02257	T	0.00913763998132959	0.00115	T	0.0673933	0.00836	T	0.05221134	0.09705	0.070847526	0.15100	0.05221134	0.09704	0.070847526	0.15100	-2.667	0.17367	T	.	.	0.055	0.00573	B	.;.;.;.	.;.;.;.	0.745629	0.11150	7.792	0.6118419730750364	0.06646	0.02185	0.06392	N	AEFI	0.034981	0.04426	N	-1.11562031806546	0.06365	0.2927838	-1.00106843686257	0.09762	0.4875671	6.79272156317658E-5	0.04366	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.92	-0.794	0.10367	0.608000	0.23921	0.503000	0.19012	-0.699000	0.04065	0.010000	0.18352	0.628000	0.25851	0.934000	0.47231	0.0:0.5515:0.0:0.4485	13.943	0.63575	477	0.77662	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1118.98	35	chr1	113622809	.	T	C	1118.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.070;DP=800;ExcessHet=0.0000;FS=3.959;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.66;ReadPosRankSum=-4.370e-01;SOR=1.165	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1252	20	0	1	0
chr1	113651063	113651063	G	A	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon14:c.G2297A:p.R766Q	.	.	.	.	.	.	.	.	.	.	.	2269698	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.996	D	0.801	P	0.000	D	1.000	D	2.495	M	0.94	T	-0.666	T	0.206	T	0.93	5.775	36	5.74	2.709	9.476	19.915	0.603	0.0236930914441	.	.	3.296e-05	0	0	0	0	4.496e-05	0	6.057e-05	2.59e-05	4	154602	rs759189272	1.026e-05	1.026e-05	1.225e-05	8.251e-06	0.0002	6.16e-06	4.89e-06	9.9e-06	3.7e-06	5.975e-05	0	0	0	0	0.0002	7.194e-06	4.967e-05	1.16e-05	6.574e-06	6.568e-06	0	1.346e-05	6.547e-05	0	0	.	.	0	0	6.547e-05	0	0	0	0	0	0	0	0.002	0.78490	D	0.057	0.46406	T	0.984	0.60733	D	0.761	0.56482	P	0.000002	0.62929	D	0.057674	1	0.81001	D	2.54	0.74080	M	0.94	0.43672	T	-3.68	0.72710	D	0.918	0.93605	-0.6663	0.61995	T	0.206	0.56417	T	10	0.8638822	0.85621	D	0.023693	0.46661	T	0.603	0.84345	0.641	0.77795	0.638864161757	0.63589	0.8468220707708334	0.84643	0.633953125668	0.57268	0.74421697855	0.73593	T	.	.	.	0.196565	0.73572	D	0.145206	0.79880	D	0.961109280586243	0.65989	D	0.980469	0.93870	D	0.67511666	0.76707	0.57093227	0.75154	0.67511666	0.76708	0.57093227	0.75154	-8.456	0.66869	D	.	.	0.476	0.65001	A	.;.;.;.	.;.;.;.	5.405543	0.90499	31	0.9995880411892395	0.99990	0.99005	0.89843	D	AEFDBI	0.904380	0.85460	D	0.854484214819364	0.89363	9.940585	0.864645898425114	0.93842	12.31859	1.0	0.98316	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.74	5.74	0.90070	9.602000	0.97623	11.872000	0.98601	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.915	0.97054	455	0.79073	.;PDZ domain|PDZ domain|PDZ domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1116.98	33	chr1	113651063	.	G	A	1116.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=785;ExcessHet=0.0000;FS=0.777;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.44;ReadPosRankSum=-1.453e+00;SOR=0.588	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1247	20	0	1	0
chr1	113653899	113653899	G	A	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon15:c.G2510A:p.R837Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	T	1.0	D	0.984	D	0.000	D	1.000	D	1.995	M	2.6	T	-1.100	T	0.062	T	0.468	1.777	11.90	5.41	2.687	3.755	19.561	0.165	0.0243017999456	0.0002	.	0.0002	0.0002	0	0	0.0003	0.0003	0	0	0.0001488	23	154602	rs143698690	0.0001	0.0001	9.938e-05	0.0001	0.0002	9.738e-05	9.216e-05	0.0001	0.0001	0.0002	2.237e-05	0	0	0.0002	0	0.0001	4.968e-05	0	0.0004	0.0004	0.0005	0.0003	0.0007	0.0003	0.0003	0.0005	0.0005	0.0002	0	0.0002	0	0	0.0003	0	0.0007	0.0005	0	0.787	0.14945	T	0.539	0.18018	T	0.916	0.77913	P	0.537	0.57669	P	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.43	0.70455	M	2.6	0.15261	T	-0.5	0.15782	N	0.133	0.14763	-1.0998	0.04116	T	0.062	0.25672	T	10	0.11761153	0.22215	T	0.024302	0.47287	T	0.165	0.42395	.	.	0.23798241625	0.23396	0.4849101411082097	0.48411	0.464471983716	0.45918	0.365942239761	0.20248	T	.	.	.	-0.441926	0.01260	T	-0.41312	0.31867	T	0.200685799121857	0.20453	T	0.944506	0.78979	D	0.10253564	0.24229	0.09597078	0.22783	0.10253564	0.24228	0.09597078	0.22782	-7.49	0.70348	T	.	.	0.075	0.06990	B	.;.;.;.	.;.;.;.	3.280834	0.44954	22.0	0.90680711381679968	0.19932	0.98204	0.80511	D	AEFBI	0.512423	0.54064	D	0.338118207209366	0.58117	3.982016	0.326887563779288	0.57124	3.877253	0.999999998993547	0.74766	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.41	5.41	0.78313	3.263000	0.51248	3.926000	0.40503	0.676000	0.76740	1.000000	0.71638	0.824000	0.27153	0.083000	0.17415	0.0:0.0:1.0:0.0	19.561	0.95366	460	0.78750	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2448.98	34	chr1	113653899	.	G	A	2448.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.405e+00;DP=944;ExcessHet=0.0000;FS=0.548;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.53;ReadPosRankSum=-1.200e-02;SOR=0.648	GT:AD:DP:GQ:PL	0/1:76,105:181:99:2463,0,1749	20	0	1	0
chr1	113812060	113812060	C	T	exonic	RSBN1	.	nonsynonymous SNV	RSBN1:NM_018364:exon1:c.G353A:p.S118N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.299	B	0.219	B	0.003	N	0.902	N	0	N	.	.	-1.055	T	0.029	T	0.089	4.111	21.2	3.85	1.190	3.520	10.721	0.049	0.0332406514971	.	.	2.584e-05	0	0	0	0	4.46e-05	0	0	1.94e-05	3	154602	rs771825572	5.719e-06	1.094e-05	5.651e-06	5.788e-06	8.781e-05	2.46e-06	1.78e-06	2.327e-05	1.245e-05	0	8.781e-05	0	0	0	0	4.615e-06	0	0	1.315e-05	1.313e-05	2.57e-05	0	0.0001	2.19e-06	8.2e-07	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	0.0	0.91255	D	0.538	0.09829	T	0.299	0.32525	B	0.219	0.37734	B	0.003213	0.35270	N	0.131035	0.901792	0.27686	N	0	0.06538	N	.	.	.	-0.71	0.20145	N	0.218	0.26837	-1.0554	0.12934	T	0.029	0.12278	T	9	0.10954353	0.20438	T	0.033241	0.54840	D	0.049	0.13647	0.16	0.06396	0.043077524339	0.03247	0.18864522848941695	0.18782	0.548005550477	0.51764	0.864976525307	0.91842	D	0.019979	0.15815	T	-0.154397	0.27627	T	-0.459557	0.26648	T	0.34759039193683	0.26924	T	0.693931	0.30359	T	0.5043354	0.67349	0.6132415	0.77495	0.5043354	0.67350	0.6132415	0.77495	-5.996	0.46246	T	.	.	0.106	0.35414	B	.;.;.	.;.;.	3.992524	0.58767	24.0	0.99243333521080412	0.56630	0.33114	0.24750	N	AEFDGBHCI	0.366631	0.45438	N	-0.138775626214093	0.35714	2.054883	0.0133497959024493	0.40333	2.405439	0.9999999997661	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.78	3.85	0.43556	3.621000	0.53951	7.460000	0.59046	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.8072:0.1928:0.0	10.721	0.45238	785	0.46916	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1109.98	73	chr1	113812060	.	C	T	1109.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=1150;ExcessHet=0.0000;FS=1.631;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=-1.503e+00;SOR=0.866	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1220	20	0	1	0
chr1	113838292	113838292	G	T	exonic	PTPN22	.	nonsynonymous SNV	PTPN22:NM_012411:exon11:c.C943A:p.H315N	.	.	428	1084	10	0	0	10	0.00459137	.	.	695997	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.11	T	0.933	P	0.674	P	0.377	N	1.000	N	1.995	M	1.4	T	-1.044	T	0.063	T	0.189	0.508	6.752	-0.861	-0.190	0.110	9.733	0.057	0.00732149072793	0.0025	0.00139776	0.0023	0.0006	0.0003	0	0.0027	0.0026	0.0011	0.0047	0.0022186	343	154602	rs72650671	0.0025	0.0025	0.0025	0.0025	0.0048	0.0024	0.0024	0.0044	0.0042	0.0001	0.0012	0.0014	0	0.0022	0.0028	0.0026	0.0016	0.0048	0.0021	0.0021	0.0021	0.0021	0.0049	0.0019	0.0018	0.0040	0.0037	0.0005	0	0.0049	0.0012	0.0002	0.0009	0.0034	0.0027	0.0033	0.0029	0.015	0.59928	D	0.071	0.52727	T	0.215	0.30128	B	0.094	0.30180	B	0.377395	0.13439	N	0.712899	1	0.08975	N	.	.	.	1.4	0.33630	T	-2.82	0.64478	D	0.273	0.54234	-1.0440	0.16118	T	0.063	0.26172	T	10	0.0070296526	0.00160	T	0.007321	0.19415	T	0.057	0.16321	.	.	0.323342291347	0.31936	0.11799723273816666	0.11726	0.166020818793	0.18730	0.330212056637	0.14966	T	0.079906	0.36238	T	-0.538925	0.00340	T	-0.546227	0.17689	T	0.077370605598392	0.09647	T	0.816218	0.47186	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.19194	B	.;.;.;.;.	.;.;.;.;.	0.118314	0.05162	1.683	0.77112204636852333	0.11741	0.16025	0.19195	N	AEFBHCI	0.090627	0.18363	N	-0.738853295187863	0.14937	0.7484553	-0.879043090686477	0.12591	0.6485653	0.00174702309514661	0.08839	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.82	-0.861	0.10136	0.197000	0.16999	-0.259000	0.10442	-0.678000	0.04252	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.6463:0.0:0.3537:0.0	9.733	0.39538	658	0.62094	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1298.98	33	chr1	113838292	.	G	T	1298.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.134e+00;DP=772;ExcessHet=0.0000;FS=0.782;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.27;ReadPosRankSum=-4.660e-01;SOR=0.804	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1065	20	0	1	0
chr1	113900251	113900251	G	A	exonic	AP4B1	.	nonsynonymous SNV	AP4B1:NM_001308312:exon2:c.C263T:p.T88I	Spastic paraplegia 47, autosomal recessive, Autosomal recessive	.	0	1499	23	0	0	23	0.00761337	.	.	215180	not_provided|not_specified|Hereditary_spastic_paraplegia|Inborn_genetic_diseases|AP4B1-related_disorder|Hereditary_spastic_paraplegia_47	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0013551,MedGen:C3279738,OMIM:614066,Orphanet:280763	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.67	T	0.083	B	0.089	B	0.000	D	0.997	D	0.075	N	2.86	T	-1.025	T	0.016	T	0.522	2.514	14.37	5.09	2.520	5.892	18.860	0.176	0.0105542815335	0.0011	0.00119808	0.0013	0.0004	0.0020	0	0	0.0015	0	0.0018	0.001313	203	154602	rs143286419	0.0013	0.0013	0.0013	0.0014	0.0342	0.0013	0.0013	0.0303	0.0288	0.0015	0.0029	0.0019	0	1.876e-05	0.0342	0.0011	0.0023	0.0018	0.0014	0.0015	0.0012	0.0017	0.0039	0.0013	0.0012	0.0031	0.0028	0.0008	0	0.0039	0.0003	0	0	0.0204	0.0014	0.0038	0.0025	0.446	0.09101	T	0.518	0.10536	T	0.014	0.16867	B	0.02	0.19048	B	0.000374	0.45194	D	0.259697	0.997088	0.43619	D	-0.19	0.04217	N	2.13	0.19588	T	0.72	0.02518	N	0.781	0.77789	-1.0251	0.22050	T	0.016	0.06329	T	10	0.009812593	0.00220	T	0.010554	0.27217	T	0.176	0.44373	.	.	0.480647642424	0.47694	0.22572069538325795	0.22487	0.135383223776	0.15262	0.529147326946	0.42913	T	0.061945	0.34700	T	-0.438873	0.01313	T	-0.407802	0.32480	T	0.0253416822341745	0.01318	T	0.918208	0.72634	D	0.18973304	0.40527	0.16205072	0.37662	0.18973304	0.40527	0.16205072	0.37661	-10.398	0.76259	D	0.2050978328686585	0.27353	0.28	0.52841	B	.;.;.;.;.;.	.;.;.;.;.;.	3.086434	0.41541	21.4	0.89591819392506655	0.18929	0.92439	0.55715	D	AEFDBI	0.635662	0.61510	D	-0.186115556344549	0.33712	1.915728	0.0515450848008477	0.42146	2.544233	0.999999897504337	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.09	5.09	0.68647	5.954000	0.70017	11.750000	0.95386	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.860	0.92236	574	0.70151	Clathrin/coatomer adaptor, adaptin-like, N-terminal;Clathrin/coatomer adaptor, adaptin-like, N-terminal;Clathrin/coatomer adaptor, adaptin-like, N-terminal;Clathrin/coatomer adaptor, adaptin-like, N-terminal;Clathrin/coatomer adaptor, adaptin-like, N-terminal;Clathrin/coatomer adaptor, adaptin-like, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	1834.98	33	chr1	113900251	.	G	A	1834.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.799;DP=841;ExcessHet=0.0000;FS=0.598;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=-4.100e-02;SOR=0.754	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1252	20	0	1	0
chr1	114139664	114139664	G	A	exonic	SYT6	.	nonsynonymous SNV	SYT6:NM_001253772:exon2:c.C463T:p.R155C	.	.	434	1053	34	1	0	36	0.0168067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.786	P	0.000	D	1.000	D	2.015	M	1.37	T	-0.572	T	0.243	T	0.917	4.416	23.4	5.49	2.583	3.826	15.046	0.315	.	0.0008	0.00359425	0.0038	0	0.0025	0.0008	0	0.0014	0.0055	0.0202	0.0033441	517	154602	rs144510124	0.0022	0.0022	0.0016	0.0028	0.0210	0.0021	0.0021	0.0202	0.0198	0.0002	0.0016	0.0011	0.0001	7.488e-05	0.0087	0.0010	0.0024	0.0210	0.0014	0.0014	0.0012	0.0017	0.0191	0.0013	0.0012	0.0160	0.0148	0.0002	0	0.0013	0.0017	0.0002	0	0.0034	0.0012	0.0043	0.0191	0.029	0.45756	D	0.048	0.79402	D	0.998	0.73220	D	0.786	0.57542	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.44	0.70756	M	0.27	0.59176	T	-2.81	0.59389	D	0.674	0.70615	-0.5722	0.65927	T	0.243	0.61166	T	10	0.0058371425	0.00130	T	.	.	.	0.315	0.63694	.	.	0.863481631396	0.86215	0.6045719063240254	0.60388	0.585778978891	0.54207	0.660595178604	0.61495	T	0.055268	0.29957	T	-0.0418585	0.45672	T	0.182692	0.82151	D	0.0655522304578806	0.08013	T	0.978302	0.92553	D	0.3139685	0.54127	0.169706	0.39025	0.3139685	0.54127	0.169706	0.39024	-7.384	0.65962	T	.	.	0.167	0.67128	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.202704	0.87283	29.2	0.99915425814779713	0.98379	0.91563	0.53791	D	AEFDBCI	0.824681	0.74453	D	0.661367253560518	0.77107	6.61134	0.66266922490195	0.79555	7.107713	0.99999152714281	0.74766	0.719381	0.83141	0	0.59043	0.45803	0	0.723133	0.82415	0	0.542086	0.14980	0	.	.	5.49	5.49	0.81022	3.918000	0.56144	11.927000	0.99878	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8574:0.1426	15.046	0.71491	205	0.92010	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1236.98	38	chr1	114139664	.	G	A	1236.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.50;DP=801;ExcessHet=0.0000;FS=5.660;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.55;ReadPosRankSum=-1.039e+00;SOR=0.290	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1151	20	0	1	0
chr1	114587850	114587850	C	T	exonic	DENND2C	.	nonsynonymous SNV	DENND2C:NM_198459:exon16:c.G2363A:p.R788H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.986	D	0.000	D	0.999	N	2.44	M	0.82	T	-0.735	T	0.227	T	0.766	4.902	28.2	5.9	2.817	4.847	13.529	0.296	0.0241330380233	.	0.000199681	8.246e-06	9.628e-05	0	0	0	0	0	0	1.94e-05	3	154602	rs566142081	8.893e-06	8.893e-06	6.806e-06	1.1e-05	7.557e-05	4.96e-06	3.82e-06	2.194e-05	1.43e-05	5.974e-05	0	0	7.557e-05	0	0	2.698e-06	0	5.797e-05	1.314e-05	1.313e-05	0	2.688e-05	0.0002	2.18e-06	8.2e-07	.	.	2.408e-05	0	0	0	0	0	0	0	0	0.0002	0.005	0.63226	D	0.026	0.55759	D	0.952	0.90584	P	0.629	0.76916	P	0.000000	0.84330	D	0.000000	0.997913	0.45372	D	2.015	0.55033	M	0.82	0.48142	T	-4.23	0.75935	D	0.444	0.48227	-0.7350	0.58710	T	0.227	0.59208	T	10	0.3224287	0.49593	T	0.024133	0.47114	T	0.296	0.61616	.	.	0.696919445781	0.69430	0.3820348124590294	0.38118	0.158669264731	0.17909	0.651320695877	0.60173	T	0.043162	0.26414	T	-0.0756629	0.40416	T	-0.143807	0.59787	T	0.740192472934723	0.42747	D	0.956004	0.83854	D	0.3202223	0.54659	0.2053714	0.44704	0.3202223	0.54659	0.2053714	0.44703	-8.273	0.64673	D	.	.	0.149	0.46085	B	.;.;.	.;.;.	4.840499	0.79023	27.0	0.99947244098105692	0.99913	0.96833	0.71185	D	AEFDGBHI	0.793019	0.72114	D	0.754901039542857	0.83226	7.961649	0.755258522221502	0.86547	8.925014	0.999987352567253	0.51787	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	5.9	5.9	0.94952	3.023000	0.49350	4.833000	0.45216	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.992000	0.67800	0.0:0.929:0.0:0.071	13.529	0.61070	731	0.54177	.;Tripartite DENN domain|dDENN domain;Tripartite DENN domain|dDENN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1736.98	35	chr1	114587850	.	C	T	1736.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.750e-01;DP=893;ExcessHet=0.0000;FS=1.247;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.06;ReadPosRankSum=0.943;SOR=0.677	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1214	20	0	1	0
chr1	114587887	114587887	A	G	exonic	DENND2C	.	nonsynonymous SNV	DENND2C:NM_198459:exon16:c.T2326C:p.Y776H	.	.	430	1087	5	0	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.97	M	-0.58	T	0.312	D	0.546	D	0.956	5.024	29.6	5.91	2.276	8.919	16.394	0.905	0.0801636321076	0.0041	0.00159744	0.0033	0.0011	0.0010	0	0.0009	0.0052	0.0011	0.0015	0.0034605	535	154602	rs61753528	0.0046	0.0046	0.0047	0.0045	0.0055	0.0045	0.0045	0.0054	0.0053	0.0009	0.0011	0.0026	0	0.0017	0.0017	0.0055	0.0030	0.0019	0.0030	0.0030	0.0031	0.0029	0.0054	0.0028	0.0027	0.0049	0.0047	0.0010	0	0.0010	0.0029	0.0002	0.0011	0	0.0054	0.0038	0.0019	0.0	0.91255	D	0.0	0.92824	D	0.987	0.90584	D	0.933	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.025	0.86340	M	-0.58	0.71425	T	-4.54	0.78472	D	0.967	0.98563	0.312	0.87747	D	0.546	0.83312	D	10	0.078736424	0.12585	T	0.080164	0.73398	D	0.905	0.97398	.	.	0.911996767079	0.91111	0.7628383842687635	0.76231	0.425250146207	0.42939	0.835372328758	0.87386	D	0.274982	0.64750	T	0.0629983	0.59988	T	0.318945	0.89047	D	0.0353943314425513	0.02875	T	0.991801	0.97430	D	0.792126	0.83406	0.7392953	0.84590	0.792126	0.83408	0.7392953	0.84591	-9.552	0.72559	D	.	.	0.858	0.84820	P	.;.;.	.;.;.	4.956907	0.81928	27.7	0.99876246065982677	0.95328	0.99684	0.98644	D	AEGBHI	0.927293	0.90973	D	0.921965054466931	0.92793	11.63243	0.888391242105138	0.95045	13.264	0.999999999776117	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	5.91	5.91	0.95240	8.947000	0.92735	11.137000	0.86960	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.394	0.83387	731	0.54177	.;Tripartite DENN domain|dDENN domain;Tripartite DENN domain|dDENN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1746.98	35	chr1	114587887	.	A	G	1746.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.579;DP=876;ExcessHet=0.0000;FS=2.237;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.44;ReadPosRankSum=0.484;SOR=0.878	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1214	20	0	1	0
chr1	114625318	114625318	A	G	exonic	DENND2C	.	nonsynonymous SNV	DENND2C:NM_198459:exon2:c.T667C:p.S223P	.	.	428	1012	81	1	0	83	0.0393925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.918	P	0.451	P	0.947	N	1.000	N	1.445	L	3.71	T	-0.963	T	0.009	T	0.372	1.213	9.922	1.08	0.807	0.846	1.844	0.054	.	0.0069	0.0127796	0.0083	0.0164	0.0035	0.0003	0.0009	0.0033	0.0121	0.0336	0.0076325	1180	154602	rs61481107	0.0050	0.0050	0.0041	0.0058	0.0322	0.0049	0.0048	0.0312	0.0308	0.0174	0.0040	0.0058	0.0004	0.0008	0.0192	0.0027	0.0065	0.0322	0.0074	0.0074	0.0066	0.0082	0.0267	0.0071	0.0069	0.0230	0.0216	0.0157	0	0.0059	0.0035	0.0004	0.0008	0.0068	0.0032	0.0090	0.0267	0.041	0.41915	D	0.27	0.22359	T	0.71	0.50838	P	0.43	0.46123	B	0.946909	0.08314	N	0.974000	1	0.08975	N	1.23	0.30720	L	3.7	0.08547	T	-0.11	0.09627	N	0.298	0.33687	-0.9632	0.38567	T	0.009	0.03183	T	10	0.0032031536	0.00054	T	.	.	.	0.054	0.15330	.	.	0.43965937752	0.43585	0.3305454103579607	0.32967	0.219717392512	0.24512	0.45200419426	0.32217	T	0.001868	0.01280	T	-0.522665	0.00424	T	-0.499174	0.22434	T	0.0252535699938177	0.01306	T	0.692631	0.30204	T	0.08959558	0.20938	0.11387794	0.27486	0.08959558	0.20938	0.11387794	0.27485	-1.336	0.03392	T	.	.	0.151	0.33296	B	.;.;.	.;.;.	2.615992	0.33986	19.50	0.98189797006152302	0.39018	0.41650	0.26704	N	AEFI	0.132841	0.25230	N	0.0123055205367606	0.42415	2.555	0.00698991770262013	0.40038	2.383225	0.00520476885531698	0.10862	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.2	1.08	0.19456	1.001000	0.29384	4.435000	0.43365	0.691000	0.84096	0.969000	0.34210	1.000000	0.68203	0.591000	0.31164	0.5201:0.114:0.0888:0.2771	1.844	0.02964	728	0.54609	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3935.11	33	chr1	114625318	.	A	G	3935.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.920e-01;DP=968;ExcessHet=0.1072;FS=0.883;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.25;ReadPosRankSum=-5.290e-01;SOR=0.634	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1218	19	0	2	0
chr1	114686902	114686902	C	T	exonic	AMPD1	.	nonsynonymous SNV	AMPD1:NM_001172626:exon3:c.G311A:p.R104H	Myopathy due to myoadenylate deaminase deficiency, Autosomal recessive	.	1	1450	69	2	0	73	0.0245543	.	.	177319	not_specified|AMPD1-related_disorder|not_provided|Muscle_AMP_deaminase_deficiency	MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0014220,MedGen:C3714933,OMIM:615511,Orphanet:45	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.12	T	0.99	D	0.583	P	0.002	U	0.988	D	1.95	M	0.97	T	-0.999	T	0.109	T	0.294	2.598	14.65	4.5	1.286	2.198	12.292	0.093	.	0.0029	0.00479233	0.0051	0.0016	0.0036	0.0003	0.0005	0.0051	0.0132	0.0121	0.00478	739	154602	rs61738827	0.0038	0.0038	0.0034	0.0042	0.0165	0.0037	0.0037	0.0138	0.0128	0.0010	0.0032	0.0231	0.0001	0.0005	0.0165	0.0030	0.0054	0.0121	0.0036	0.0036	0.0034	0.0037	0.0145	0.0033	0.0032	0.0118	0.0108	0.0010	0.0011	0.0043	0.0239	0	0.0002	0.0136	0.0038	0.0095	0.0145	0.028	0.47320	D	0.109	0.37872	T	.	.	.	.	.	.	0.002416	0.00885	U	11.368800	0.987684	0.40632	D	2.045	0.56016	M	0.97	0.42502	T	-0.15	0.09796	N	0.289	0.32921	-0.9990	0.30199	T	0.109	0.39509	T	10	0.0043738484	0.00089	T	.	.	.	0.093	0.26882	.	.	0.71889551114	0.71642	0.3105258791752021	0.30965	0.105181179434	0.11892	0.356991648674	0.18946	T	0.368652	0.73350	T	-0.485421	0.00689	T	-0.459019	0.26707	T	0.0192262107775266	0.00628	T	0.70223	0.31206	T	0.08808499	0.20535	0.06575114	0.13373	0.099119626	0.23387	0.07012084	0.14860	-4.017	0.24072	T	.	.	0.099	0.21428	B	.;.	.;.	2.835667	0.37399	20.5	0.99748629097363373	0.84077	0.92457	0.55756	D	AEFBI	0.120830	0.23519	N	0.219453574693732	0.52143	3.390361	0.254924878545914	0.52931	3.464669	0.0102450568174137	0.11992	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.41	4.5	0.54382	2.272000	0.43032	1.774000	0.28659	0.599000	0.40250	0.972000	0.34453	0.999000	0.35428	0.997000	0.79791	0.0:0.9199:0.0:0.0801	12.292	0.54142	825	0.40060	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	2251.11	35	chr1	114686902	.	C	T	2251.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.23;DP=879;ExcessHet=0.1072;FS=4.200;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=0.572;SOR=0.986	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1224	19	0	2	0
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.033	B	0.015	B	0.000	D	0.999	D	-1.545	N	.	.	-0.951	T	0.015	T	0.585	0.535	6.895	5.89	2.787	4.426	15.011	0.141	0.00302580783907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.572e-05	0.0005	3.966e-05	3.175e-05	4.338e-05	2.774e-05	2.512e-05	3.36e-05	2.971e-05	0	0	3.834e-05	0	0	0	4.338e-05	3.322e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.007	0.12992	B	0.000054	0.53742	D	0.166893	0.995854	0.46032	D	-1.005	0.01165	N	.	.	.	1.46	0.00775	N	0.49	0.52651	-0.9514	0.40730	T	0.015	0.06186	T	9	0.1688331	0.31457	T	0.003026	0.06487	T	0.141	0.37795	0.283	0.23961	0.438345833192	0.43453	0.47999988597583465	0.47919	0.664778676347	0.59103	0.696112155914	0.66584	T	0.116941	0.43665	T	-0.00863497	0.50457	T	-0.25018	0.49799	T	0.698000967502594	0.40624	D	0.917108	0.76468	D	0.059146494	0.11985	0.09358893	0.22112	0.059146494	0.11985	0.09358893	0.22111	-6.727	0.59015	T	.	.	0.240	0.47513	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.228914	0.64023	24.7	0.79526294004721843	0.12782	0.91046	0.52754	D	AEFBCI	0.679294	0.64337	D	-0.4128236221243	0.25018	1.355104	-0.0758002100467609	0.36392	2.117378	0.809094888011598	0.24323	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	5.89	0.94758	4.456000	0.59820	7.732000	0.67763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.1424:0.8576:0.0:0.0	15.011	0.71206	854	0.34840	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	6766.73	121	chr1	114732648	.	C	G	6766.73	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.661e+00;DP=3409;ExcessHet=54.0936;FS=245.736;InbreedingCoeff=-0.9995;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.26;ReadPosRankSum=1.31;SOR=12.755	GT:AD:DP:GQ:PL	0/1:96,65:171:99:480,0,1224	0	0	21	0
chr1	115286513	115286513	G	T	exonic	NGF	.	nonsynonymous SNV	NGF:NM_002506:exon3:c.C283A:p.R95S,	Neuropathy, hereditary sensory and autonomic, type V, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	862013	Congenital_sensory_neuropathy_with_selective_loss_of_small_myelinated_fibers	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654,Orphanet:64752	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.0	B	0.0	B	0.001	N	1.000	N	-0.345	N	0.18	T	-1.027	T	0.037	T	0.072	0.646	7.468	3.4	0.718	4.452	10.667	0.130	0.00806634004587	.	.	.	.	.	.	.	.	.	.	.	.	.	rs771270154	4.104e-06	4.104e-06	2.722e-06	5.5e-06	2.319e-05	1.48e-06	9.7e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	2.698e-06	1.656e-05	2.319e-05	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.005	0.63226	D	0.69	0.05920	T	0.0	0.02946	B	0.0	0.01387	B	0.000522	0.43581	N	0.239176	1	0.08975	N	0	0.06538	N	0.18	0.60361	T	0.8	0.01866	N	0.076	0.05037	-1.0272	0.21363	T	0.037	0.15899	T	10	0.0853053	0.14387	T	0.008066	0.21393	T	0.130	0.35528	0.275	0.22687	0.280695755116	0.27685	0.2662945145590544	0.26542	0.383706664572	0.39690	0.439226210117	0.30471	T	0.136202	0.46845	T	-0.263448	0.12500	T	-0.533336	0.18955	T	0.158237083999301	0.17741	T	0.869413	0.57379	D	0.12132023	0.28531	0.14819582	0.35042	0.12132023	0.28531	0.14819582	0.35041	-2.812	0.08294	T	0.04556678471661285	0.00590	0.110	0.21163	B	.	.	0.852195	0.12243	8.787	0.96148947485896252	0.28859	0.94888	0.62678	D	AEFDBI	0.751147	0.69204	D	-0.63196461875021	0.17989	0.9304026	-0.522760648710441	0.21536	1.165482	0.994791415252906	0.33804	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.27	3.4	0.38031	4.526000	0.60280	5.887000	0.50713	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.605000	0.31514	0.1589:0.0:0.8411:0.0	10.667	0.44933	186	0.92733	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2578.98	33	chr1	115286513	.	G	T	2578.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.596;DP=917;ExcessHet=0.0000;FS=0.527;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.52;ReadPosRankSum=0.999;SOR=0.633	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1294	20	0	1	0
chr1	115992107	115992107	T	C	exonic	SLC22A15	.	nonsynonymous SNV	SLC22A15:NM_018420:exon2:c.T164C:p.L55P,	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.891	P	0.471	P	0.017	N	1.000	D	0.41	N	-0.53	T	-0.935	T	0.145	T	0.552	2.170	13.21	2.04	0.086	2.701	7.380	0.363	0.0277407318707	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1307233788	2.737e-06	2.736e-06	1.361e-06	4.126e-06	0.0002	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.698e-06	0	0	6.568e-06	6.566e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.087	0.52492	T	0.353	0.25591	T	0.0	0.49025	B	0.001	0.46788	B	0.016781	0.27892	N	0.347424	0.999949	0.51968	D	1.155	0.29575	L	-1.11	0.77466	T	-0.26	0.15178	N	0.747	0.83473	-0.9350	0.43394	T	0.145	0.46786	T	10	0.59715706	0.66706	D	0.027741	0.50513	D	0.363	0.68319	0.616	0.75000	0.413891365518	0.41003	0.725072107202105	0.72451	0.650003792899	0.58294	0.516417741776	0.41122	T	0.008443	0.07749	T	0.0335501	0.56196	T	-0.189584	0.55628	T	0.426266968250275	0.29922	T	0.649735	0.26051	T	0.118760705	0.27975	0.20941064	0.45285	0.118760705	0.27975	0.20941064	0.45284	-4.237	0.27284	T	.	.	0.077	0.21201	B	.;.	.;.	2.653449	0.34557	19.66	0.98104464683972847	0.38302	0.84725	0.43812	D	AEFBI	0.498419	0.53253	N	-0.388771063360684	0.25867	1.407457	-0.26158760531793	0.29374	1.645228	0.851777390974271	0.25058	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.67	2.04	0.25787	2.129000	0.41677	2.847000	0.35116	-0.122000	0.13826	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.0:0.0697:0.2725:0.6578	7.380	0.26021	892	0.26670	Major facilitator superfamily domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1897.98	33	chr1	115992107	.	T	C	1897.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.940e+00;DP=863;ExcessHet=0.0000;FS=2.877;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=-1.051e+00;SOR=0.937	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1261	20	0	1	0
chr1	115992218	115992218	G	C	exonic	SLC22A15	.	nonsynonymous SNV	SLC22A15:NM_018420:exon2:c.G275C:p.S92T,	.	.	426	1085	11	0	0	11	0.00504356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.015	B	0.049	B	0.013	N	0.999	N	0.2	N	0.34	T	-1.014	T	0.108	T	0.198	2.279	13.58	4.01	1.068	2.104	9.859	0.067	0.017430854785	0.0054	0.00139776	0.0052	0.0017	0.0024	0	0.0013	0.0064	0.0033	0.0072	0.004379	677	154602	rs185420236	0.0062	0.0062	0.0063	0.0061	0.0072	0.0061	0.0061	0.0070	0.0070	0.0007	0.0015	0.0016	5.124e-05	0.0012	0.0061	0.0072	0.0039	0.0070	0.0039	0.0039	0.0045	0.0033	0.0065	0.0036	0.0035	0.0060	0.0058	0.0015	0.0066	0.0024	0.0023	0	0.0006	0.0068	0.0065	0.0028	0.0056	0.127	0.32610	T	0.535	0.11004	T	0.015	0.17086	B	0.049	0.25116	B	0.013020	0.28981	N	0.422522	0.999069	0.21661	N	0.35	0.11930	N	-1.08	0.77078	T	-1.25	0.32185	N	0.24	0.27077	-1.0136	0.25784	T	0.108	0.39172	T	10	0.007766038	0.00176	T	0.017431	0.39125	T	0.067	0.19503	.	.	0.291694819147	0.28783	0.28550130682985747	0.28463	0.208021027618	0.23268	0.287762522697	0.08596	T	0.010145	0.09188	T	-0.422596	0.01647	T	-0.373409	0.36491	T	0.0104857532945679	0.00145	T	0.829717	0.49530	T	0.0754271	0.16994	0.085678324	0.19800	0.0754271	0.16993	0.085678324	0.19799	-4.615	0.34240	T	.	.	0.093	0.13830	B	.;.	.;.	2.294512	0.29350	18.10	0.97402695927089666	0.33780	0.94069	0.60019	D	AEFBI	0.307596	0.41442	N	-0.356949138755218	0.27017	1.47906	-0.15556050550482	0.33195	1.896336	0.895792491277381	0.25962	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.19	4.01	0.45821	2.427000	0.44397	4.578000	0.43908	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1193:0.0:0.8807:0.0	9.859	0.40272	892	0.26670	Major facilitator superfamily domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	2263.68	33	chr1	115992218	.	G	C	2263.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.806e+00;DP=892;ExcessHet=0.3300;FS=0.616;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=1.00;SOR=0.749	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1261	18	0	3	0
chr1	116128223	116128223	G	T	exonic	MAB21L3	.	stopgain	MAB21L3:NM_152367:exon6:c.G739T:p.E247X,	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.528	N	1.000	A	.	.	.	.	.	.	.	.	.	4.788	27.0	1.14	-0.025	0.715	12.038	.	.	7.7e-05	.	0.0002	0	8.64e-05	0	0	0.0002	0.0011	0.0004	0.0001746	27	154602	rs149122915	0.0002	0.0002	0.0002	0.0002	0.0033	0.0002	0.0002	0.0022	0.0018	0	0.0002	0.0002	0	0	0.0033	0.0002	0.0004	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	2.413e-05	0	0.0003	0.0006	0	9.418e-05	0.0063	0.0003	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.527948	0.11669	N	0.781774	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.209	0.23253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252313	0.78818	D	0.435172	0.93191	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.163065	0.96216	35	0.99532023468277342	0.69963	0.71520	0.35048	D	AEFBI	0.161709	0.28780	N	0.152972242583021	0.48953	3.101266	-0.0677785916068165	0.36731	2.141359	0.00527281036455557	0.10885	0.497415	0.19182	0	0.546412	0.12157	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.36	1.14	0.19817	0.761000	0.26154	1.480000	0.26815	-0.273000	0.06669	0.979000	0.35152	0.997000	0.33255	0.911000	0.44643	0.0659:0.4676:0.4665:0.0	12.038	0.52733	881	0.29269	Mab-21 domain|Mab-21 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1170.98	34	chr1	116128223	.	G	T	1170.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.329e+00;DP=851;ExcessHet=0.0000;FS=0.754;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.20;ReadPosRankSum=-3.190e-01;SOR=0.610	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1143	20	0	1	0
chr1	116387322	116387322	C	T	exonic	ATP1A1	.	nonsynonymous SNV	ATP1A1:NM_000701:exon4:c.C218T:p.A73V	.	.	.	.	.	.	.	.	.	.	.	3046362	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.003	B	0.001	B	0.000	D	1.000	D	2.27	M	-1.32	T	-0.467	T	0.381	T	0.639	3.953	20.2	5.34	2.773	4.800	19.206	0.336	0.0227616793453	.	.	1.648e-05	0	0	0	0	1.499e-05	0	6.056e-05	1.29e-05	2	154602	rs751968061	1.163e-05	1.163e-05	9.529e-06	1.375e-05	1.439e-05	7.08e-06	5.79e-06	8.52e-06	6.89e-06	0	0	0	0	0	0	1.439e-05	0	1.159e-05	2.629e-05	2.627e-05	3.853e-05	1.345e-05	7.241e-05	8.14e-06	5.14e-06	1.92e-05	1.032e-05	7.241e-05	0	0	0	0	0	0	1.47e-05	0	0	0.076	0.34269	T	0.265	0.23365	T	0.003	0.11197	B	0.001	0.04355	B	0.000000	0.84330	D	0.000000	1	0.81001	D	3.18	0.88827	M	-1.32	0.79761	T	-1.54	0.37375	N	0.484	0.51940	-0.4665	0.69848	T	0.381	0.73766	T	10	0.36594254	0.53101	T	0.022762	0.45677	T	0.336	0.65816	0.377	0.39156	0.753886192774	0.75166	0.5721245122953718	0.57140	1.34515436598	0.83964	0.730997204781	0.71652	T	0.313719	0.68545	T	0.0510604	0.58479	T	-0.0567747	0.66557	D	0.664666652679443	0.39101	D	0.879112	0.59504	D	0.19288906	0.40976	0.19217631	0.42717	0.19288906	0.40976	0.19217631	0.42716	-8.61	0.65438	D	.	.	0.094	0.24967	B	.;.;.;.;.	.;.;.;.;.	4.968168	0.82200	27.7	0.99848506136690618	0.92838	0.98649	0.85128	D	AEFDBI	0.830362	0.74909	D	0.165646515050584	0.49554	3.154587	0.314374371282521	0.56382	3.801624	0.999999999969549	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.34	5.34	0.75982	5.024000	0.63865	7.691000	0.65788	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:1.0:0.0:0.0	19.206	0.93714	680	0.59965	Cation-transporting P-type ATPase, N-terminal|Cation-transporting P-type ATPase, N-terminal;Cation-transporting P-type ATPase, N-terminal|Cation-transporting P-type ATPase, N-terminal;.;Cation-transporting P-type ATPase, N-terminal|Cation-transporting P-type ATPase, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3098.98	34	chr1	116387322	.	C	T	3098.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.960;DP=972;ExcessHet=0.0000;FS=4.021;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=-2.285e+00;SOR=0.503	GT:AD:DP:GQ:PL	0/1:151,124:275:99:3113,0,3764	20	0	1	0
chr1	116579664	116579664	T	A	exonic	IGSF3	.	nonsynonymous SNV	IGSF3:NM_001007237:exon10:c.A3062T:p.D1021V	.	.	264	1235	22	0	1	23	0.00882825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.028	B	0.028	B	0.044	N	1.000	N	0.69	N	3.97	T	-0.911	T	0.003	T	0.264	-0.988	0.279	0.329	0.362	0.428	.	0.014	.	0.0024	0.00359425	0.0075	0.0003	0.0038	0	0	0.0066	0.0145	0.0266	0.0001537	4	26028	rs151042895	0.0037	0.0036	0.0032	0.0041	0.0151	0.0036	0.0036	0.0144	0.0142	0.0004	0.0026	0.0011	0	9.714e-05	0.0067	0.0033	0.0030	0.0151	0.0048	0.0047	0.0044	0.0051	0.0231	0.0043	0.0042	0.0182	0.0164	0.0009	0	0.0072	0.0034	0	0	0.0069	0.0081	0.0079	0.0231	0.004	0.65419	D	0.01	0.65728	D	0.026	0.19406	B	0.028	0.21332	B	0.043632	0.23720	N	0.329841	1	0.08975	N	0.975	0.24501	L	3.97	0.03326	T	-0.89	0.24026	N	0.181	0.20528	-0.9114	0.46682	T	0.003	0.00897	T	9	0.007165462	0.00163	T	.	.	.	0.014	0.01968	.	.	0.082315109003	0.07666	0.38069498720299083	0.37984	0.806318246299	0.66480	0.316242486238	0.12852	T	0.01773	0.14416	T	-0.572228	0.00215	T	-0.577157	0.14799	T	0.0165079015313066	0.00414	T	0.370863	0.08760	T	0.120272145	0.28303	0.098585226	0.23509	0.095623605	0.22507	0.098585226	0.23508	-8.193	0.62378	D	.	.	0.111	0.21390	B	.;.;.	.;.;.	0.767106	0.11369	7.985	0.78176353375940033	0.12188	0.27456	0.23283	N	AEFBI	0.140807	0.26280	N	-1.0919722095484	0.06790	0.3135973	-1.20050571495367	0.05902	0.2825615	0.749665797228215	0.23339	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	0.329	0.329	0.15164	0.425000	0.21065	1.584000	0.27491	0.126000	0.17648	0.003000	0.16062	0.982000	0.30508	0.007000	0.07825	.	.	.	653	0.62661	.;Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	1151.98	33	chr1	116579664	.	T	A	1151.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.577e+00;DP=1772;ExcessHet=0.0000;FS=1.976;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.52;ReadPosRankSum=-2.920e-01;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:141,0:141:99:.:.:0,120,1800	20	0	1	0
chr1	116600234	116600234	G	A	exonic	IGSF3	.	nonsynonymous SNV	IGSF3:NM_001007237:exon7:c.C1736T:p.S579L	.	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.867	P	0.443	B	0.000	D	1.000	D	1.525	L	2.59	T	-1.117	T	0.025	T	0.783	4.029	20.7	4.57	2.354	8.986	14.899	0.396	0.0154956235482	.	0.000199681	5.821e-05	0	0	0.0006	0	1.511e-05	0	6.08e-05	5.17e-05	8	154602	rs552602059	1.231e-05	1.231e-05	1.089e-05	1.375e-05	0.0003	7.7e-06	6.35e-06	6.111e-05	2.528e-05	2.987e-05	0	0	0.0001	0	0.0003	5.396e-06	4.967e-05	2.319e-05	2.625e-05	2.624e-05	1.285e-05	4.026e-05	0.0002	8.13e-06	5.14e-06	.	.	0	0	6.533e-05	0	0.0002	9.411e-05	0	0	0.0005	0	0.002	0.72154	D	0.015	0.76473	D	0.782	0.47667	P	0.294	0.45803	B	0.000001	0.62929	D	0.000000	0.999987	0.54805	D	1.955	0.52871	M	2.59	0.13317	T	-3.75	0.71157	D	0.761	0.75927	-1.1170	0.02531	T	0.025	0.10553	T	10	0.44866624	0.58559	T	0.015496	0.36266	T	0.396	0.71084	0.501	0.59304	0.485086648227	0.48140	0.6415825942717509	0.64093	0.921685428134	0.71480	0.640085816383	0.58576	T	0.228845	0.59450	T	-0.130149	0.31473	T	-0.124403	0.61439	T	0.77528715133667	0.44760	D	0.909109	0.67839	D	0.44265285	0.63573	0.4080996	0.65137	0.44265285	0.63574	0.4080996	0.65137	-12.363	0.87650	D	.	.	0.439	0.61669	A	.;.;.	.;.;.	4.101461	0.61165	24.3	0.9990753992963084	0.97801	0.98455	0.82955	D	AEFDBI	0.908816	0.86463	D	0.385690944363519	0.60645	4.255822	0.4040266145325	0.61814	4.387075	0.999999999059396	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	4.57	4.57	0.55860	9.092000	0.93505	9.914000	0.82450	0.669000	0.69127	1.000000	0.71638	1.000000	0.68203	0.400000	0.26782	0.0:0.0:1.0:0.0	14.899	0.70309	654	0.62520	.;Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1847.98	33	chr1	116600234	.	G	A	1847.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=872;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.41;MQRankSum=-2.855e+00;QD=13.20;ReadPosRankSum=-7.480e-01;SOR=0.740	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1400	20	0	1	0
chr1	116944787	116944787	C	T	exonic	PTGFRN	.	nonsynonymous SNV	PTGFRN:NM_020440:exon3:c.C527T:p.P176L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.005	B	0.002	B	0.084	N	0.801	N	0.69	N	4.15	T	-0.911	T	0.003	T	0.169	1.563	11.18	2.03	0.654	0.341	7.055	0.015	0.016896545806	.	0.000399361	3.201e-05	0	0.0004	0	0	0	0	0	2.59e-05	4	154602	rs559167017	2.836e-06	1.094e-05	2.807e-06	2.865e-06	5.118e-05	6.6e-07	4.5e-07	8.48e-06	3.17e-06	0	5.118e-05	0	0	0	0	9.172e-07	1.712e-05	0	3.283e-05	3.281e-05	2.57e-05	4.028e-05	0.0001	1.26e-05	7.97e-06	2.258e-05	1.03e-05	7.214e-05	0	0.0001	0	0	0	0	0	0	0	0.188	0.21304	T	0.278	0.21812	T	0.005	0.12996	B	0.002	0.06944	B	0.084260	0.20707	N	0.546525	0.800709	0.29118	N	0.55	0.14455	N	4.15	0.02815	T	-0.48	0.15379	N	0.09	0.06854	-0.9107	0.46768	T	0.003	0.00800	T	10	0.019681752	0.00443	T	0.016897	0.38370	T	0.015	0.02232	0.376	0.38994	0.0675242888579	0.06100	0.3994868582054144	0.39863	0.441268052763	0.44120	0.591548442841	0.51712	T	0.052636	0.29217	T	-0.265635	0.12248	T	-0.619343	0.11236	T	0.0736010000109673	0.09148	T	0.811819	0.46320	T	0.0648066	0.13787	0.040868793	0.04516	0.0648066	0.13786	0.040868793	0.04515	-5.052	0.37399	T	.	.	0.085	0.10304	B	.	.	1.445802	0.18663	13.86	0.95138884745593555	0.26258	0.16798	0.19554	N	AEFDBI	0.062289	0.11963	N	-0.563230776524822	0.20071	1.055361	-0.455952140779157	0.23380	1.274708	0.0272398513908228	0.13761	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.47	2.03	0.25714	0.366000	0.20099	0.055000	0.14054	0.524000	0.24156	0.001000	0.13787	0.000000	0.08366	0.902000	0.43815	0.1463:0.6798:0.0:0.1739	7.055	0.24272	596	0.68392	Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	236.98	33	chr1	116944787	.	C	T	236.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.512;DP=780;ExcessHet=0.0000;FS=3.528;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.18;ReadPosRankSum=-8.820e-01;SOR=0.260	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1372	20	0	1	0
chr1	117025736	117025736	C	T	exonic	CD101	.	nonsynonymous SNV	CD101:NM_001256106:exon8:c.C2656T:p.R886C	.	.	418	1096	7	1	0	9	0.00408905	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	0.999	D	2.36	M	1.95	T	-0.998	T	0.092	T	0.839	2.375	13.90	4.35	1.403	1.678	10.861	0.311	0.0429783644867	0.0007	0.00119808	0.0012	9.612e-05	0.0005	0	0.0041	0.0010	0.0033	0.0025	0.0011837	183	154602	rs145563609	0.0011	0.0011	0.0009	0.0012	0.0043	0.0010	0.0010	0.0031	0.0030	0.0006	0.0004	0	0	0.0050	0.0043	0.0007	0.0012	0.0034	0.0012	0.0012	0.0008	0.0016	0.0037	0.0010	0.0010	0.0024	0.0020	7.224e-05	0	0.0005	0	0.0002	0.0063	0	0.0011	0.0024	0.0037	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000029	0.55875	D	0.000000	0.998832	0.45528	D	2.685	0.78553	M	1.95	0.22474	T	-6.19	0.90332	D	0.718	0.72031	-0.9983	0.30395	T	0.092	0.35146	T	10	0.031836003	0.01324	T	0.042978	0.60744	D	0.311	0.63269	.	.	0.41883969893	0.41498	0.5030693294742855	0.50228	0.573622992884	0.53407	0.414083778858	0.27022	T	0.432415	0.78019	T	-0.205345	0.20038	T	-0.072355	0.65459	T	0.075597228158838	0.09414	T	0.882612	0.60317	D	0.47500956	0.65597	0.2970573	0.55738	0.47500956	0.65597	0.2970573	0.55738	-9.079	0.68203	D	.	.	0.236	0.46994	B	.;.	.;.	4.249877	0.64501	24.7	0.99891572324364386	0.96513	0.81631	0.40996	D	AEFBI	0.140877	0.26289	N	0.402770763960826	0.61575	4.360442	0.283614773579469	0.54582	3.623	0.994313093158964	0.33582	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.550183	0.17644	0	.	.	5.28	4.35	0.51454	0.870000	0.27662	5.741000	0.49573	0.599000	0.40250	0.968000	0.34134	1.000000	0.68203	0.105000	0.18517	0.1879:0.8121:0.0:0.0	10.861	0.46032	906	0.23090	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1342.98	34	chr1	117025736	.	C	T	1342.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.959;DP=831;ExcessHet=0.0000;FS=2.148;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.26;ReadPosRankSum=-9.480e-01;SOR=0.730	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr1	117075111	117075111	-	GG	exonic	TTF2	.	frameshift insertion	TTF2:NM_003594:exon5:c.527_528insGG:p.D177Efs*15,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	49.94	72	chr1	117075111	.	A	AGG	49.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.777e+00;DP=1284;ExcessHet=0.0000;FS=33.194;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.57;ReadPosRankSum=0.419;SOR=4.974	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,11:87:64:0|1:117075111_A_AGG:64,0,3016:117075111	20	0	1	0
chr1	117075114	117075114	A	G	exonic	TTF2	.	nonsynonymous SNV	TTF2:NM_003594:exon5:c.A530G:p.D177G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.004	B	0.006	B	0.457	N	1.000	N	1.59	L	-2.26	D	-0.762	T	0.291	T	0.032	2.133	13.09	-4.06	-0.643	-0.172	6.280	0.154	0.0132360835549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.28646	T	0.09	0.40267	T	0.001	0.07471	B	0.002	0.06944	B	0.457106	0.04848	N	1.398010	1	0.08975	N	1.14	0.29013	L	-2.26	0.87352	D	-0.75	0.21003	N	0.083	0.05929	-0.7620	0.57296	T	0.291	0.66259	T	10	0.058485538	0.06882	T	0.013236	0.32488	T	0.154	0.40340	0.183	0.09131	0.643941902393	0.64099	0.08108825765098707	0.08043	0.241580751267	0.26684	0.243414014578	0.03106	T	0.021237	0.16575	T	-0.176365	0.24280	T	-0.491113	0.23275	T	0.054866618141063	0.06334	T	0.59544	0.22079	T	0.049401704	0.08766	0.062875554	0.12368	0.049401704	0.08766	0.062875554	0.12368	-3.245	0.13038	T	.	.	0.073	0.04723	B	.	.	0.063571	0.04739	1.366	0.94533126519332245	0.25034	0.11347	0.16573	N	AEFBI	0.048164	0.08190	N	-1.03133576847904	0.07959	0.3715235	-1.124398888183	0.07236	0.3512182	0.435799075252417	0.20411	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	-4.06	0.03718	0.032000	0.13620	0.077000	0.14340	0.756000	0.94297	0.000000	0.06391	0.001000	0.17328	0.008000	0.08271	0.3761:0.3505:0.2734:0.0	6.280	0.20207	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	116.39	72	chr1	117075114	.	ACC	GCC,A	116.39	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-3.677e+00;DP=1342;ExcessHet=0.3300;FS=114.546;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=0.47;ReadPosRankSum=2.15;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:78,0,11:89:58:0|1:117075111_A_AGG:58,292,3393,0,3100,3068:117075111	18	0	2	0
chr1	117075115	117075116	CC	-	exonic	TTF2	.	frameshift deletion	TTF2:NM_003594:exon5:c.531_532del:p.S179Ifs*26,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	116.39	72	chr1	117075114	.	ACC	GCC,A	116.39	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-3.677e+00;DP=1342;ExcessHet=0.3300;FS=114.546;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=0.47;ReadPosRankSum=2.15;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:78,0,11:89:58:0|1:117075111_A_AGG:58,292,3393,0,3100,3068:117075111	18	0	2	0
chr1	117075115	117075115	C	G	exonic	TTF2	.	nonsynonymous SNV	TTF2:NM_003594:exon5:c.C531G:p.D177E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	T	0.004	B	0.006	B	0.457	N	1.000	N	0.895	L	-2.09	D	-0.949	T	0.152	T	0.024	1.069	9.364	-11.7	-1.989	-2.698	7.671	0.294	0.0133099251909	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.19500	T	0.565	0.08961	T	0.003	0.11197	B	0.002	0.06944	B	0.457106	0.04848	N	1.398010	1	0.08975	N	0.795	0.19620	N	-2.09	0.86077	D	-0.44	0.14588	N	0.025	0.00485	-0.9489	0.41160	T	0.152	0.48049	T	10	0.036800593	0.01997	T	0.01331	0.32613	T	0.294	0.61388	0.15	0.05339	0.419713421852	0.41588	0.01867910000120359	0.01821	0.170441058877	0.19214	0.245176702738	0.03277	T	0.007389	0.06799	T	-0.230908	0.16530	T	-0.56946	0.15500	T	0.0853659222227376	0.10658	T	0.475952	0.14261	T	0.027897246	0.02046	0.030979753	0.01624	0.027897246	0.02046	0.030979753	0.01624	-2.944	0.09590	T	.	.	0.087	0.11366	B	.	.	-2.604579	0.00025	0.001	0.68458849430015456	0.08665	0.01377	0.04694	N	AEFBI	0.025145	0.01673	N	-2.17914600982642	0.00085	0.003650813	-2.26845868672044	0.00078	0.003437762	0.999999941412917	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	-11.7	0.00035	-1.899000	0.01691	-5.877000	0.01566	-1.734000	0.00710	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0817:0.3909:0.4201:0.1073	7.671	0.27624	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	75.57	72	chr1	117075115	.	C	G,*	75.57	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-3.836e+00;DP=1311;ExcessHet=0.3300;FS=113.927;InbreedingCoeff=-0.0852;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=0.30;ReadPosRankSum=3.35;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:78,0,11:89:58:0|1:117075111_A_AGG:58,292,3393,0,3100,3068:117075111	18	0	2	0
chr1	117075115	117075115	C	0	exonic	TTF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	75.57	72	chr1	117075115	.	C	G,*	75.57	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-3.836e+00;DP=1311;ExcessHet=0.3300;FS=113.927;InbreedingCoeff=-0.0852;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=0.30;ReadPosRankSum=3.35;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:78,0,11:89:58:0|1:117075111_A_AGG:58,292,3393,0,3100,3068:117075111	18	0	2	0
chr1	117075116	117075116	C	G	exonic	TTF2	.	nonsynonymous SNV	TTF2:NM_003594:exon5:c.C532G:p.L178V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.952	P	0.652	P	0.218	N	1.000	N	1.87	L	-2.25	D	-0.572	T	0.361	T	0.093	1.266	10.13	2.83	0.941	0.585	7.325	0.284	0.0213300752184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.841e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.19023	T	0.291	0.20944	T	0.799	0.44910	P	0.214	0.37471	B	0.218384	0.16197	N	0.458835	1	0.08975	N	2.125	0.59049	M	-2.25	0.87272	D	0.07	0.06138	N	0.069	0.04188	-0.5724	0.65919	T	0.361	0.72292	T	10	0.09302208	0.16428	T	0.02133	0.44082	T	0.284	0.60219	0.102	0.01589	0.727519437982	0.72510	0.0620487696778787	0.06144	0.196730262232	0.22047	0.224589943886	0.01592	T	0.095091	0.39551	T	-0.107936	0.35110	T	-0.392819	0.34220	T	0.144249540598991	0.16636	T	0.655434	0.26547	T	0.03494017	0.04019	0.042891104	0.05214	0.03494017	0.04019	0.042891104	0.05213	-3.482	0.16181	T	.	.	0.062	0.01309	B	.	.	0.157752	0.05486	1.954	0.85876684211171095	0.16168	0.21968	0.21586	N	AEFBI	0.053474	0.09639	N	-0.484094750617409	0.22602	1.207987	-0.596142495220181	0.19592	1.051903	0.324646790490361	0.19420	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	2.83	0.32150	0.347000	0.19760	-0.033000	0.12769	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.7033:0.1406:0.1561	7.325	0.25724	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	34.06	72	chr1	117075116	.	C	G,*	34.06	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-4.531e+00;DP=1272;ExcessHet=0.1072;FS=66.244;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=0.20;ReadPosRankSum=3.34;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:78,0,11:89:58:0|1:117075111_A_AGG:58,292,3393,0,3100,3068:117075111	19	0	1	0
chr1	117075116	117075116	C	0	exonic	TTF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	34.06	72	chr1	117075116	.	C	G,*	34.06	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-4.531e+00;DP=1272;ExcessHet=0.1072;FS=66.244;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=0.20;ReadPosRankSum=3.34;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:78,0,11:89:58:0|1:117075111_A_AGG:58,292,3393,0,3100,3068:117075111	19	0	1	0
chr1	117076740	117076740	G	A	exonic	TTF2	.	nonsynonymous SNV	TTF2:NM_003594:exon7:c.G1490A:p.R497H,	.	.	422	1088	12	0	0	12	0.00548446	.	.	706613	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.13	T	0.001	B	0.002	B	0.974	N	1.000	N	1.1	L	-2.21	D	-0.852	T	0.252	T	0.06	1.748	11.81	0.327	0.152	-0.106	4.098	0.083	0.031427401075	0.0052	0.000998403	0.0045	0.0009	0.0030	0	0.0051	0.0068	0.0088	0.0001	0.0043984	680	154602	rs139705346	0.0058	0.0058	0.0059	0.0057	0.0067	0.0057	0.0056	0.0066	0.0065	0.0014	0.0038	0.0019	5.038e-05	0.0058	0.0061	0.0067	0.0062	0.0003	0.0044	0.0044	0.0044	0.0044	0.0066	0.0041	0.0040	0.0058	0.0056	0.0012	0	0.0066	0.0029	0	0.0059	0.0204	0.0062	0.0052	0.0004	0.178	0.22138	T	0.168	0.30631	T	0.001	0.07471	B	0.002	0.06944	B	0.974148	0.07798	N	1.016540	1	0.08975	N	0.55	0.14455	N	-2.21	0.86963	D	0.38	0.03579	N	0.047	0.01911	-0.8524	0.51802	T	0.252	0.62131	T	10	0.003646642	0.00067	T	0.031427	0.53513	D	0.083	0.24192	.	.	0.62221620619	0.61914	0.14583723799539677	0.14505	0.360902261426	0.37748	0.243106126785	0.03077	T	0.008637	0.07919	T	-0.503235	0.00548	T	-0.491633	0.23221	T	0.0028474347078721	0.00030	T	0.20068	0.02272	T	0.015416646	0.00138	0.018045269	0.00045	0.015416646	0.00138	0.018045269	0.00045	-2.278	0.04436	T	.	.	0.075	0.05711	B	.	.	0.237823	0.06184	2.633	0.91777284075757415	0.21080	0.06735	0.12756	N	AEFBI	0.056033	0.10326	N	-1.19175289621659	0.05124	0.2328516	-1.19523207563627	0.05989	0.2869539	0.736373377861732	0.23138	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.662433	0.64102	0	.	.	6.04	0.327	0.15155	-0.091000	0.11111	-0.311000	0.10039	-0.680000	0.04236	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.171:0.1109:0.5938:0.1243	4.098	0.09475	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1346.98	34	chr1	117076740	.	G	A	1346.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.07;DP=847;ExcessHet=0.0000;FS=4.259;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.13;ReadPosRankSum=0.565;SOR=1.124	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1171	20	0	1	0
chr1	117090580	117090580	G	C	exonic	TTF2	.	nonsynonymous SNV	TTF2:NM_003594:exon15:c.G2545C:p.E849Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.503	P	0.323	B	0.002	N	0.962	D	1.96	M	-1.03	T	-0.368	T	0.323	T	0.174	3.638	18.50	5.1	2.663	2.668	13.891	0.233	0.00830853091922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.32769	T	0.326	0.18789	T	0.503	0.37206	P	0.323	0.41825	B	0.001682	0.38271	N	0.000000	0.961826	0.38256	D	1.665	0.42610	L	-1.03	0.76430	T	-1.08	0.28084	N	0.24	0.27077	-0.3680	0.73022	T	0.323	0.69143	T	10	0.23383674	0.40410	T	0.008309	0.22004	T	0.233	0.53499	0.415	0.45380	0.778037506841	0.77599	0.30617731699651646	0.30530	0.341241828603	0.36058	0.309169411659	0.11782	T	0.248971	0.61885	T	-0.0514313	0.44231	T	-0.311654	0.43481	T	0.58659548968546	0.35873	D	0.847215	0.52823	T	0.14298809	0.32883	0.06340431	0.12554	0.14298809	0.32882	0.06340431	0.12554	-6.39	0.49432	T	.	.	0.087	0.11124	B	.	.	2.697218	0.35225	19.84	0.99767496621617513	0.85583	0.95325	0.64282	D	AEFBI	0.270626	0.38665	N	0.310363651786202	0.56680	3.833087	0.387939808959802	0.60822	4.274088	0.999990122100509	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.1	5.1	0.68917	2.739000	0.47083	5.730000	0.49516	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	13.891	0.63243	895	0.25842	SNF2-related, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1691.98	40	chr1	117090580	.	G	C	1691.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.200e-02;DP=851;ExcessHet=0.0000;FS=0.618;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.09;ReadPosRankSum=2.67;SOR=0.636	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1247	20	0	1	0
chr1	117092779	117092779	G	A	exonic	TTF2	.	nonsynonymous SNV	TTF2:NM_003594:exon18:c.G2854A:p.E952K,	.	.	422	1084	16	0	0	16	0.00732601	.	.	706616	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.48	T	1.0	D	0.998	D	0.002	N	1.000	D	2.255	M	-2.29	D	0.222	D	0.691	D	0.278	3.719	18.89	5.06	2.632	8.751	13.794	0.500	.	0.0078	0.00479233	0.0072	0.0012	0.0043	0	0.0020	0.0113	0.0066	0.0024	0.0071215	1101	154602	rs41306197	0.0078	0.0078	0.0077	0.0079	0.0121	0.0077	0.0076	0.0099	0.0090	0.0014	0.0050	0.0384	0	0.0015	0.0121	0.0082	0.0099	0.0022	0.0069	0.0069	0.0075	0.0063	0.0096	0.0065	0.0064	0.0090	0.0088	0.0015	0.0636	0.0065	0.0366	0	0.0008	0.0102	0.0096	0.0133	0.0019	0.039	0.42487	D	0.128	0.34959	T	1.0	0.90584	D	0.998	0.88582	D	0.001813	0.37945	N	0.000000	1	0.81001	D	2.91	0.84121	M	-2.29	0.87591	D	-1.37	0.33998	N	0.647	0.65844	0.222	0.86288	D	0.691	0.89345	D	10	0.009188026	0.00208	T	.	.	.	0.500	0.78350	.	.	0.94980648375	0.94927	0.40208463991760734	0.40124	0.774771022593	0.64964	0.594895720482	0.52183	T	0.023315	0.17820	T	-0.230493	0.16584	T	-0.0928324	0.63949	T	0.0267691115987556	0.01512	T	0.935306	0.75759	D	0.1221448	0.28709	0.118917234	0.28704	0.1221448	0.28708	0.118917234	0.28703	-12.071	0.85195	D	.	.	0.270	0.50370	B	.	.	4.847000	0.79187	27.1	0.99905566058912054	0.97651	0.98527	0.83734	D	AEFDGBCIJ	0.901852	0.84905	D	0.630458009251532	0.75108	6.24836	0.56580612014504	0.72504	5.820292	0.999999999999484	0.74766	0.730579	0.87903	0	0.702456	0.74545	0	0.698795	0.65105	0	0.648885	0.59868	0	.	.	5.06	5.06	0.67838	8.857000	0.91856	11.537000	0.93115	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.253000	0.23340	0.0:0.0:1.0:0.0	13.794	0.62652	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2106.98	36	chr1	117092779	.	G	A	2106.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.020e-01;DP=878;ExcessHet=0.0000;FS=1.167;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=1.28;SOR=0.601	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1261	20	0	1	0
chr1	117623709	117623709	A	G	exonic	TENT5C	.	nonsynonymous SNV	TENT5C:NM_017709:exon2:c.A841G:p.I281V,	.	.	.	.	.	.	.	.	.	.	.	137967	not_specified	MedGen:CN169374	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0.56	T	0.232	B	0.084	B	0.000	D	1.000	D	1.055	L	1.85	T	-1.069	T	0.021	T	0.311	0.977	8.986	4.51	2.169	7.017	11.805	0.119	0.00486615973033	0.0029	0.00119808	0.0027	0.0009	0.0003	0	0.0021	0.0043	0.0033	0.0005	0.0027684	428	154602	rs77871185	0.0036	0.0036	0.0037	0.0036	0.0043	0.0036	0.0035	0.0042	0.0042	0.0003	0.0008	0	0	0.0035	0	0.0043	0.0027	0.0010	0.0026	0.0026	0.0028	0.0024	0.0042	0.0024	0.0023	0.0038	0.0036	0.0009	0.0197	0.0009	0	0	0.0029	0	0.0042	0.0024	0.0010	0.448	0.09048	T	0.493	0.11443	T	0.232	0.30664	B	0.084	0.29270	B	0.000105	0.50451	D	0.081357	1	0.81001	D	.	.	.	1.85	0.24472	T	-0.58	0.17417	N	0.349	0.39052	-1.0693	0.09567	T	0.021	0.08639	T	10	0.006962985	0.00158	T	0.004866	0.12192	T	0.119	0.33137	.	.	0.265735104816	0.26182	0.25802276368522026	0.25716	0.575116630912	0.53524	0.705684065819	0.67967	T	0.037883	0.24641	T	-0.473453	0.00809	T	-0.449133	0.27792	T	0.0250989641593357	0.01286	T	0.875013	0.58582	D	0.108590655	0.25675	0.078475334	0.17579	0.108590655	0.25675	0.078475334	0.17578	-4.228	0.27155	T	.	.	0.087	0.11366	B	.	.	2.402346	0.30868	18.57	0.96711199926166014	0.30814	0.91615	0.53899	D	AEFDGBCI	0.867627	0.78747	D	-0.0077772265424035	0.41503	2.483611	0.161708791173484	0.47765	3.001913	0.999999999175911	0.74766	0.536767	0.22168	0	0.383324	0.06291	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.7	4.51	0.54589	7.020000	0.76158	7.941000	0.75483	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.8535:0.1465:0.0:0.0	11.805	0.51422	685	0.59416	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3167.98	39	chr1	117623709	.	A	G	3167.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.990e-01;DP=1023;ExcessHet=0.0000;FS=1.017;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=0.696;SOR=0.618	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	20	0	1	0
chr1	118885216	118885216	C	T	exonic	TBX15	.	nonsynonymous SNV	TBX15:NM_001330677:exon8:c.G1325A:p.R442K	Cousin syndrome, Autosomal recessive	.	0	1511	10	1	0	12	0.00395517	.	.	273931	not_specified|Pelviscapular_dysplasia|not_provided|TBX15-related_disorder	MedGen:CN169374|MONDO:MONDO:0009845,MedGen:C1850040,OMIM:260660,Orphanet:93333|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.35	T	0.996	D	0.986	D	0.000	D	1.000	D	1.59	L	-1.25	T	0.139	D	0.623	D	0.806	4.007	20.5	4.4	1.483	6.952	14.056	0.627	0.0557816806839	0.0005	0.000798722	0.0009	0	0.0006	0	0	0.0011	0.0011	0.0019	0.0008667	134	154602	rs144291418	0.0006	0.0006	0.0005	0.0007	0.0050	0.0006	0.0006	0.0036	0.0031	0.0006	0.0008	0.0050	0	3.744e-05	0.0050	0.0004	0.0011	0.0024	0.0007	0.0007	0.0006	0.0008	0.0021	0.0006	0.0005	0.0015	0.0013	0.0001	0	0.0021	0.0037	0	0	0.0034	0.0006	0.0014	0.0017	0.046	0.45393	D	0.459	0.17804	T	0.996	0.68779	D	0.986	0.76916	D	0.000000	0.84330	D	0.093057	0.999994	0.58761	D	2.445	0.70938	M	-2.32	0.87830	D	-0.7	0.48020	N	0.523	0.57263	0.139	0.84870	D	0.623	0.86718	D	10	0.014314055	0.00301	T	0.055782	0.66363	D	0.627	0.85615	.	.	0.783679178932	0.78168	0.45277565252463137	0.45195	0.903446232335	0.70738	0.740978479385	0.73118	T	0.059485	0.45965	T	-0.0622602	0.42553	T	0.131624	0.78999	D	0.0803354235118167	0.10030	T	0.929107	0.73907	D	0.37025714	0.58604	0.3056502	0.56591	0.37025714	0.58604	0.3056502	0.56590	-4.643	0.32707	T	.	.	0.325	0.64256	B	.;.;.	.;.;.	4.918004	0.80978	27.4	0.995189730549075	0.69100	0.97011	0.72175	D	AEFBI	0.689964	0.65046	D	0.546108044653046	0.69845	5.415326	0.540043900961922	0.70706	5.545004	0.962029808200898	0.28593	0.487112	0.14033	0	0.546412	0.12157	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.31	4.4	0.52402	7.206000	0.77400	7.676000	0.65050	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9278:0.0:0.0722	14.056	0.64295	831	0.39019	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1533.98	37	chr1	118885216	.	C	T	1533.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.877e+00;DP=944;ExcessHet=0.0000;FS=5.533;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=-4.100e-02;SOR=0.360	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,109,1426	20	0	1	0
chr1	119422169	119422169	T	C	exonic	HSD3B2	.	nonsynonymous SNV	HSD3B2:NM_000198:exon4:c.T668C:p.V223A	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.815	P	0.679	P	0.000	D	1.000	D	2.46	M	-2.59	D	0.253	D	0.629	D	0.529	3.239	16.86	3.98	1.463	4.520	7.169	0.682	0.108876548008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.36912	T	0.086	0.40909	T	0.815	0.45525	P	0.679	0.53442	P	0.000002	0.62929	D	0.058872	0.999986	0.54805	D	2.67	0.78151	M	-2.59	0.89822	D	-2.93	0.61284	D	0.486	0.52029	0.253	0.86788	D	0.629	0.86985	D	9	0.8173064	0.80959	D	0.108877	0.78560	D	0.682	0.88348	0.814	0.92925	0.999896452263	0.99989	0.5181679192019256	0.51739	0.576694450929	0.53618	0.60534620285	0.53659	T	0.757609	0.93407	D	0.108683	0.65214	D	-0.0816607	0.64782	T	0.964553475379944	0.66993	D	0.714229	0.32652	T	0.39722496	0.60540	0.30491844	0.56520	0.39722496	0.60540	0.30491844	0.56519	-5.316	0.40101	T	0.30838737677218514	0.40616	0.271	0.54041	B	.;.	.;.	4.177712	0.62865	24.5	0.99707693567709055	0.81074	0.96474	0.69319	D	AEFI	0.544154	0.55919	D	0.285675610912907	0.55421	3.706261	0.230980790095606	0.51573	3.338813	0.163765464656093	0.17633	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	3.98	3.98	0.45383	4.414000	0.59555	4.842000	0.45294	0.366000	0.20181	1.000000	0.71638	1.000000	0.68203	0.561000	0.30436	0.0:0.1041:0.0:0.8959	7.169	0.24885	687	0.59234	3-beta hydroxysteroid dehydrogenase/isomerase;3-beta hydroxysteroid dehydrogenase/isomerase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1469.98	33	chr1	119422169	.	T	C	1469.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.63;DP=817;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=-2.243e+00;SOR=0.704	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1354	20	0	1	0
chr1	119623675	119623675	-	CCAGGCTGGCGGCGGCAGCGGCCTCAG	exonic	ZNF697	.	nonframeshift insertion	ZNF697:NM_001080470:exon3:c.667_668insCTGAGGCCGCTGCCGCCGCCAGCCTGG:p.L222_E223insAEAAAAASL,	.	.	439	1065	17	1	0	19	0.00884132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0047	0.0244	0	0	0.0026	0	0.0007	0.0006916	18	26028	rs747219814	0.0061	0.0052	0.0063	0.0059	0.0173	0.0060	0.0059	0.0138	0.0125	0.0008	0.0043	0.0081	0	0.0016	0.0173	0.0068	0.0065	0.0010	0.0046	0.0046	0.0049	0.0043	0.0068	0.0043	0.0042	0.0063	0.0060	0.0012	0.0172	0.0068	0.0065	0	0.0013	0.0214	0.0068	0.0078	0.0024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	287.94	27	chr1	119623675	.	T	TCCAGGCTGGCGGCGGCAGCGGCCTCAG	287.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=618;ExcessHet=0.0000;FS=4.713;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.15;ReadPosRankSum=-1.614e+00;SOR=1.981	GT:AD:DP:GQ:PL	0/0:28,0:28:84:0,84,788	20	0	1	0
chr1	119626088	119626088	C	T	exonic	ZNF697	.	nonsynonymous SNV	ZNF697:NM_001080470:exon2:c.G13A:p.D5N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.0	B	0.0	B	.	.	1.000	N	0.55	N	2.85	T	-0.902	T	0.004	T	0.058	-0.293	2.603	-0.886	-0.127	1.223	2.010	0.042	0.00321540379781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.421e-06	3.42e-06	5.446e-06	1.375e-06	4.497e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.20306	T	0.565	0.08961	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	2.85	0.10578	T	-0.26	0.11185	N	0.134	0.13055	-0.9024	0.47739	T	0.004	0.01435	T	9	0.03836295	0.02250	T	0.003215	0.07057	T	0.042	0.11227	0.09	0.01023	0.0482279557977	0.04254	0.01989842870568829	0.01942	0.576102096463	0.53574	0.346091806889	0.17345	T	0.006506	0.05941	T	-0.364388	0.03888	T	-0.761194	0.03070	T	0.0437759930570969	0.04379	T	0.445855	0.12478	T	0.016812993	0.00224	0.027521132	0.00911	0.016812993	0.00223	0.027521132	0.00911	-4.709	0.33513	T	.	.	0.081	0.08033	B	.	.	1.523918	0.19565	14.33	0.75566970484248897	0.11125	0.23600	0.22128	N	AEFDBI	0.057931	0.10829	N	-1.33099382771568	0.03326	0.148385	-1.32345379132641	0.04129	0.1940939	0.999945531559973	0.47345	0.706548	0.73137	0	0.547309	0.14657	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.32	-0.886	0.10054	0.889000	0.27917	0.976000	0.23092	-0.873000	0.02525	0.187000	0.24151	0.508000	0.25241	0.009000	0.08673	0.269:0.4384:0.1311:0.1616	2.010	0.03274	669	0.61081	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	474.98	35	chr1	119626088	.	C	T	474.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.756;DP=742;ExcessHet=0.0000;FS=2.688;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.05;ReadPosRankSum=0.673;SOR=1.250	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1276	20	0	1	0
chr1	119727080	119727080	G	A	exonic	PHGDH	.	nonsynonymous SNV	PHGDH:NM_006623:exon5:c.G488A:p.R163Q,	Neu-Laxova syndrome 1, Autosomal recessive;Phosphoglycerate dehydrogenase deficiency, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	143179	not_provided|PHGDH_deficiency|Neu-Laxova_syndrome_1	MedGen:C3661900|MONDO:MONDO:0011152,MedGen:C1866174,OMIM:601815,Orphanet:79351|MONDO:MONDO:0009736,MedGen:C4551478,OMIM:256520,Orphanet:2671,Orphanet:583607	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.615	H	-1.53	D	0.730	D	0.766	D	0.882	6.034	37	5.83	2.769	9.728	18.682	0.968	0.522875780875	.	.	8.248e-06	0	0	0	0	0	0	6.072e-05	6.5e-06	1	154602	rs587777483	4.82e-06	7.526e-06	4.115e-06	5.531e-06	2.522e-05	2e-06	1.29e-06	8.5e-07	5.7e-07	0	0	0	2.522e-05	0	0	3.626e-06	1.664e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.036	0.52060	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.915	0.84231	M	-1.53	0.81559	D	-3.95	0.73477	D	0.908	0.90932	0.730	0.93547	D	0.766	0.92040	D	10	0.9194493	0.91301	D	0.522876	0.95473	D	0.968	0.99597	0.703	0.83962	0.963768508205	0.96337	0.8678554530528497	0.86750	0.944994080329	0.72380	0.577394008636	0.49719	T	0.922284	0.98619	D	0.353777	0.86771	D	0.367254	0.90971	D	0.991514325141907	0.81819	D	0.938806	0.77799	D	0.9711548	0.98367	0.93692476	0.97564	0.97759515	0.98921	0.95218337	0.98530	-13.08	0.89690	D	0.8093713931170455	0.88463	0.729	0.74143	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	6.706169	0.95620	35	0.99961983653131414	0.99998	0.97188	0.73208	D	AEFDBCI	0.940178	0.94179	D	1.09868009541036	0.98110	17.45019	1.03752135420388	0.99230	21.350	1.0	0.98316	0.722319	0.85440	0	0.724815	0.89359	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.83	5.83	0.93059	9.853000	0.98388	11.567000	0.93263	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.682	0.91510	752	0.51611	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1793.98	45	chr1	119727080	.	G	A	1793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.99;DP=861;ExcessHet=0.0000;FS=0.698;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.83;ReadPosRankSum=1.25;SOR=0.832	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr1	119755490	119755490	G	C	exonic	HMGCS2	.	nonsynonymous SNV	HMGCS2:NM_001166107:exon5:c.C998G:p.S333C	HMG-CoA synthase-2 deficiency, Autosomal recessive	.	0	1504	18	0	0	18	0.00594845	.	.	276465	3-hydroxy-3-methylglutaryl-CoA_synthase_deficiency|not_provided|not_specified	MONDO:MONDO:0011614,MedGen:C2751532,OMIM:605911,Orphanet:35701|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.002	N	1.000	D	1.885	L	-1.17	T	0.076	D	0.542	D	0.737	3.395	17.46	5.57	2.772	9.276	17.401	0.578	.	0.0004	0.00399361	0.0019	0.0002	0.0003	0	0	0.0002	0.0011	0.0127	0.0016753	259	154602	rs151328418	0.0010	0.0010	0.0006	0.0013	0.0128	0.0009	0.0009	0.0122	0.0120	0.0002	8.944e-05	7.652e-05	2.519e-05	0	0.0026	0.0002	0.0010	0.0128	0.0006	0.0006	0.0004	0.0009	0.0141	0.0005	0.0005	0.0114	0.0104	7.219e-05	0	0.0002	0	0	9.42e-05	0	0.0003	0.0009	0.0141	0.011	0.55530	D	0.017	0.60337	D	1.0	0.90584	D	0.998	0.88582	D	0.001595	0.38554	N	0.185657	0.999968	0.52935	D	2.23	0.63091	M	-1.17	0.78199	T	-2.28	0.50830	N	0.864	0.86404	0.076	0.83737	D	0.542	0.83122	D	10	0.013461292	0.00285	T	.	.	.	0.578	0.82968	.	.	0.914753015564	0.91389	0.47170183242617564	0.47089	0.509296270345	0.49072	0.528510212898	0.42824	T	0.541205	0.84295	D	-0.137979	0.30211	T	0.0400577	0.72932	D	0.0623311034081158	0.07531	T	0.854615	0.54143	D	0.6254988	0.74057	0.3769495	0.62805	0.57394576	0.71278	0.4756891	0.69618	-9.718	0.72699	D	0.24168275128639305	0.32738	0.171	0.38080	B	.;.	.;.	4.130297	0.61802	24.4	0.98637468825228192	0.44001	0.99315	0.94380	D	AEFGBI	0.972460	0.99427	D	0.730189148890773	0.81611	7.563106	0.679394563703988	0.80818	7.383954	0.999999999996283	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.57	5.57	0.84021	9.401000	0.96640	8.246000	0.76856	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.030000	0.13115	0.0:0.0:1.0:0.0	17.401	0.87350	786	0.46839	Hydroxymethylglutaryl-coenzyme A synthase C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1179.98	34	chr1	119755490	.	G	C	1179.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=837;ExcessHet=0.0000;FS=2.404;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.29;ReadPosRankSum=2.000e-03;SOR=0.976	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr1	119837308	119837308	-	G	exonic	NBPF7	.	frameshift insertion	NBPF7:NM_001047980:exon6:c.889dupC:p.Q297Pfs*15,	.	.	439	1073	9	1	0	11	0.00509968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	.	0.0006	0.0002	0.0005	0.0001	0	0.0010	0	0.0001	0.0001153	3	26028	rs768412597	0.0005	0.0005	0.0005	0.0005	0.0111	0.0005	0.0004	0.0089	0.0081	0.0007	0.0006	0.0018	2.565e-05	0	0.0111	0.0004	0.0010	0.0002	0.0005	0.0005	0.0005	0.0005	0.0008	0.0004	0.0004	0.0005	0.0004	0.0002	0	0.0008	0.0026	0	0	0.0068	0.0005	0.0009	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1203.94	44	chr1	119837308	.	T	TG	1203.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.768;DP=821;ExcessHet=0.0000;FS=16.128;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.47;ReadPosRankSum=0.989;SOR=1.222	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1236	20	0	1	0
chr1	119926524	119926524	T	C	exonic	NOTCH2	.	nonsynonymous SNV	NOTCH2:NM_024408:exon24:c.A3980G:p.D1327G,	Alagille syndrome 2, Autosomal dominant;Hajdu-Cheney syndrome, Autosomal dominant	.	5	1401	110	6	0	122	0.0417237	.	.	138711	not_specified|not_provided|Hajdu-Cheney_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007057,MedGen:C0917715,OMIM:102500,Orphanet:955	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.86	T	0.101	B	0.061	B	0.028	U	0.640	D	-0.33	N	-2.83	D	-0.782	T	0.259	T	0.558	1.562	11.18	5.64	2.276	2.219	15.329	0.401	.	0.0050	0.0109824	0.0169	0.0015	0.0056	0.0004	0.0039	0.0109	0.0240	0.0642	0.0107825	1667	154602	rs61752484	0.0090	0.0091	0.0077	0.0104	0.0522	0.0089	0.0088	0.0509	0.0504	0.0012	0.0043	0.0051	0.0001	0.0027	0.0266	0.0068	0.0090	0.0522	0.0061	0.0061	0.0059	0.0062	0.0440	0.0057	0.0056	0.0392	0.0373	0.0016	0.0066	0.0040	0.0081	0	0.0027	0.0136	0.0074	0.0071	0.0440	0.411	0.10115	T	0.407	0.14679	T	0.101	0.25775	B	0.061	0.26820	B	0.028087	0.25656	U	0.187689	0.63999	0.32867	D	0.36	0.11994	N	-2.83	0.91249	D	-0.83	0.22727	N	0.233	0.26233	-0.7823	0.56172	T	0.259	0.62955	T	10	0.005875975	0.00132	T	.	.	.	0.401	0.71479	.	.	.	.	0.5572658966142893	0.55653	0.902817761121	0.70701	0.378910720348	0.22102	T	0.340968	0.70992	T	-0.255136	0.13476	T	-0.102017	0.63241	T	0.0107099988816602	0.00151	T	0.783822	0.42110	T	0.15419918	0.34914	0.12176654	0.29377	0.15419918	0.34914	0.12176654	0.29376	-4.607	0.32260	T	0.08702335474015384	0.05070	0.108	0.20391	B	.	.	3.766816	0.54085	23.4	0.96812852524452542	0.31195	0.90332	0.51424	D	AEFBI	0.296564	0.40637	N	-0.406180722580298	0.25253	1.369426	-0.157145179363137	0.33134	1.892235	0.999933978369673	0.46732	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	2.183000	0.42195	4.071000	0.41665	0.665000	0.62972	0.647000	0.28146	1.000000	0.68203	0.976000	0.56436	0.0:0.0:0.0:1.0	15.329	0.73896	825	0.40060	EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	2960.11	33	chr1	119926524	.	T	C	2960.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.089;DP=920;ExcessHet=0.1072;FS=3.752;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=0.664;SOR=0.941	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1184	19	0	2	0
chr1	119967490	119967490	G	T	exonic	NOTCH2	.	nonsynonymous SNV	NOTCH2:NM_001200001:exon8:c.C1396A:p.Q466K	Alagille syndrome 2, Autosomal dominant;Hajdu-Cheney syndrome, Autosomal dominant	.	1	1498	23	0	0	23	0.00761842	.	.	138707	not_specified|not_provided|Hajdu-Cheney_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007057,MedGen:C0917715,OMIM:102500,Orphanet:955	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.38	T	0.997	D	0.992	D	0.052	N	1.000	D	1.465	L	-1.54	D	-0.213	T	0.470	T	0.395	4.568	24.8	4.78	1.387	6.347	14.919	0.490	0.0540084363161	0.0002	0.00159744	0.0012	0	0.0002	0	0	0.0012	0.0011	0.0039	0.0010608	164	154602	rs141935585	0.0008	0.0008	0.0006	0.0009	0.0051	0.0007	0.0007	0.0047	0.0045	5.975e-05	0.0004	0.0119	7.559e-05	0	0.0024	0.0002	0.0016	0.0051	0.0006	0.0006	0.0006	0.0006	0.0046	0.0005	0.0005	0.0031	0.0026	2.405e-05	0	0.0001	0.0118	0	0	0.0068	0.0003	0.0014	0.0046	0.05	0.39575	D	0.165	0.30926	T	0.997	0.70673	D	0.992	0.80445	D	0.051790	0.22951	N	0.218587	1	0.81001	D	1.54	0.38927	L	-1.54	0.81640	D	-2.89	0.60665	D	0.275	0.31140	-0.2133	0.77327	T	0.470	0.79605	T	10	0.015744537	0.00331	T	0.054008	0.65690	D	0.490	0.77720	.	.	0.794429864761	0.79251	0.8310143140814363	0.83060	0.724846526864	0.62416	0.630724787712	0.57248	T	0.762811	0.93588	D	-0.260944	0.12791	T	-0.147338	0.59479	T	0.0276478020861148	0.01636	T	0.808919	0.45897	T	0.40501353	0.61078	0.21972813	0.46722	0.4237735	0.62342	0.24696754	0.50216	-6.274	0.48516	T	0.16123221376884006	0.19725	0.099	0.16713	B	.;.	.;.	2.909045	0.38583	20.8	0.99497629346689553	0.67859	0.97994	0.78718	D	AEFBI	0.693048	0.65251	D	0.182510541799373	0.50359	3.226697	0.29721799957346	0.55377	3.700765	0.999999999179144	0.74766	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.71	4.78	0.60666	5.468000	0.66473	8.322000	0.76964	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8497:0.1503	14.919	0.70467	861	0.33516	EGF-like domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2347.98	36	chr1	119967490	.	G	T	2347.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.664;DP=871;ExcessHet=0.0000;FS=4.472;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=-3.580e-01;SOR=0.441	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1446	20	0	1	0
chr1	120005529	120005529	C	T	exonic	NOTCH2	.	nonsynonymous SNV	NOTCH2:NM_001200001:exon3:c.G215A:p.R72H	Alagille syndrome 2, Autosomal dominant;Hajdu-Cheney syndrome, Autosomal dominant	.	1	1514	6	1	0	8	0.00263505	.	.	364427	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.656	P	0.253	B	0.006	U	1.000	N	0.515	N	0.42	T	-1.108	T	0.042	T	0.18	2.053	12.82	3.51	1.270	1.831	6.567	0.093	.	0.0002	0.00519169	0.0035	0.0002	8.975e-05	0.0004	0	0.0001	0.0023	0.0241	0.0012679	33	26028	rs201838650	0.0015	0.0015	0.0009	0.0022	0.0243	0.0015	0.0015	0.0234	0.0230	0.0002	0.0001	7.659e-05	0.0004	0	0.0003	3.254e-05	0.0015	0.0243	0.0008	0.0008	0.0004	0.0012	0.0228	0.0007	0.0006	0.0193	0.0180	2.435e-05	0	0.0001	0	0.0002	0	0	4.441e-05	0.0010	0.0228	0.55	0.06585	T	0.172	0.34716	T	0.656	0.40834	P	0.253	0.39112	B	0.006021	0.32339	U	0.000000	1	0.08975	N	0.425	0.12573	N	0.42	0.56937	T	-0.79	0.21860	N	0.352	0.45047	-1.1083	0.03219	T	0.042	0.17910	T	10	0.015218258	0.00319	T	.	.	.	0.093	0.26882	.	.	0.586462102955	0.58320	0.38202645344111025	0.38117	1.42373316533	0.85663	0.414664924145	0.27102	T	0.54962	0.84726	D	-0.499828	0.00573	T	-0.472491	0.25248	T	0.0215367702644792	0.00857	T	0.889911	0.62289	D	0.044176515	0.07017	0.039038505	0.03907	0.048702903	0.08529	0.035759732	0.02889	-4.167	0.26272	T	.	.	0.074	0.22537	B	.;.;.	.;.;.	3.222316	0.43907	21.8	0.99500351401923359	0.67973	0.45660	0.27588	N	AEFBI	0.068410	0.13493	N	-0.0910239517460659	0.37786	2.20338	0.0427882768521916	0.41723	2.511555	4.26304549591561E-4	0.06935	0.706298	0.61202	0	0.60822	0.50512	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.4	3.51	0.39297	1.983000	0.40270	1.308000	0.25520	0.433000	0.20966	0.800000	0.29721	1.000000	0.68203	0.992000	0.67800	0.0:0.673:0.1581:0.1689	6.567	0.21715	889	0.27310	EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1614.98	37	chr1	120005529	.	C	T	1614.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.87;DP=829;ExcessHet=0.0000;FS=0.726;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=46.26;MQRankSum=-1.230e-01;QD=13.46;ReadPosRankSum=0.667;SOR=0.793	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr1	120449258	120449258	G	A	exonic	NBPF8	.	nonsynonymous SNV	NBPF8:NM_001037501:exon9:c.G844A:p.E282K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782419441	9.652e-06	1.578e-05	5.962e-06	1.331e-05	3.268e-05	5.39e-06	4.15e-06	6.35e-06	5.01e-06	3.268e-05	0	0	0	0	0	1.19e-05	0	0	1.316e-05	2.627e-05	1.286e-05	1.348e-05	6.558e-05	2.19e-06	8.2e-07	.	.	0	0	6.558e-05	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	329.98	268	chr1	120449258	.	G	A	329.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.557e+00;DP=1703;ExcessHet=0.0000;FS=2.058;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=37.60;MQRankSum=2.34;QD=1.23;ReadPosRankSum=-7.480e-01;SOR=0.514	GT:AD:DP:GQ:PL	0/0:81,0:81:99:0,120,1800	20	0	1	0
chr1	120449302	120449302	C	-	exonic	NBPF8	.	frameshift deletion	NBPF8:NM_001037501:exon9:c.888delC:p.Q298Sfs*18,	.	.	412	1091	19	0	0	19	0.00863244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1319313670	0.0009	0.0012	0.0008	0.0010	0.0052	0.0009	0.0008	0.0039	0.0038	0.0002	0.0006	0.0025	2.519e-05	0	0.0052	0.0007	0.0010	0.0043	0.0008	0.0009	0.0007	0.0009	0.0062	0.0007	0.0006	0.0045	0.0039	0.0002	0	0.0010	0.0017	0	9.422e-05	0.0034	0.0009	0.0005	0.0062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1063.94	271	chr1	120449301	.	AC	A	1063.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.55;DP=2004;ExcessHet=0.0000;FS=3.080;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.93;MQRankSum=-2.475e+00;QD=3.07;ReadPosRankSum=-1.338e+00;SOR=0.925	GT:AD:DP:GQ:PL	0/0:81,0:81:99:0,120,1800	20	0	1	0
chr1	120449333	120449333	A	G	exonic	NBPF8	.	nonsynonymous SNV	NBPF8:NM_001037501:exon9:c.A919G:p.R307G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.093	B	0.106	B	.	.	.	.	.	.	3.25	T	-0.960	T	0.008	T	0.621	0.611	7.288	.	0.103	-0.196	.	0.136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325220470	5.623e-05	0.0001	3.412e-05	7.856e-05	0.0005	4.621e-05	4.247e-05	0.0003	0.0003	0	0.0001	0	0.0001	0	0.0004	2.524e-05	6.64e-05	0.0005	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	9.69e-05	0.0008	0.0006	4.809e-05	0.0011	6.533e-05	0.0003	0.0008	0	0	0.0001	0.0005	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1197.98	300	chr1	120449333	.	A	G	1197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.680;DP=2006;ExcessHet=0.0000;FS=5.890;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=40.81;MQRankSum=0.455;QD=3.99;ReadPosRankSum=1.44;SOR=0.373	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:81,0:81:99:.:.:0,120,1800	20	0	1	0
chr1	120449334	120449334	G	T	exonic	NBPF8	.	nonsynonymous SNV	NBPF8:NM_001037501:exon9:c.G920T:p.R307I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297465870	5.623e-05	0.0001	3.276e-05	7.994e-05	0.0005	4.621e-05	4.247e-05	0.0004	0.0003	0	0.0001	0	7.559e-05	0	0.0004	2.524e-05	6.64e-05	0.0005	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	9.691e-05	0.0008	0.0006	4.809e-05	0.0011	6.533e-05	0.0003	0.0008	0	0	0.0001	0.0005	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1197.98	300	chr1	120449334	.	G	T	1197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.21;DP=2009;ExcessHet=0.0000;FS=5.890;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=40.99;MQRankSum=0.455;QD=3.99;ReadPosRankSum=1.89;SOR=0.373	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:81,0:81:99:.:.:0,120,1800	20	0	1	0
chr1	120465316	120465316	A	G	exonic	NBPF8	.	nonsynonymous SNV	NBPF8:NM_001037501:exon22:c.A2530G:p.K844E,	.	.	520	1001	1	0	0	1	0.000499251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1463149732	9.252e-05	6.999e-05	7.721e-05	0.0001	0.0018	7.274e-05	6.525e-05	0.0006	0.0004	0	0.0002	0	0	0	0.0018	6.017e-05	0.0002	0.0002	8.911e-06	3.44e-05	0	1.833e-05	.	0	0	.	.	0	0	0	0	0	0	0.0043	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	128.98	36	chr1	120465316	.	A	G	128.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.270e-01;DP=600;ExcessHet=0.0000;FS=1.970;InbreedingCoeff=-0.0247;MLEAC=1;MLEAF=0.024;MQ=42.15;MQRankSum=-2.634e+00;QD=4.96;ReadPosRankSum=1.10;SOR=0.223	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1047	20	0	1	0
chr1	120809819	120809819	G	A	exonic	NBPF26	.	nonsynonymous SNV	NBPF26:NM_001351372:exon4:c.G502A:p.E168K,	.	.	438	1073	11	0	0	11	0.00509968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1335706926	0.0029	0.0032	0.0017	0.0041	0.0431	0.0028	0.0028	0.0420	0.0415	0.0005	0.0002	0.0001	0.0014	1.97e-05	0.0009	0.0002	0.0027	0.0431	0.0016	0.0015	0.0008	0.0024	0.0413	0.0014	0.0013	0.0364	0.0345	0.0002	0	7.404e-05	0	0.0022	0	0	6.383e-05	0.0005	0.0413	.	.	.	0.095	0.41239	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.21839	.	.	.	.	.	.	.	0.0061796606	0.00139	T	.	.	.	.	.	.	.	.	.	0.03486794252730376	0.03433	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.680532	0.28920	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.23570	B	.;.;.;.;.	.;.;.;.;.	1.558948	0.19974	14.53	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356000	0.19918	-3.305000	0.02891	-0.588000	0.04664	0.016000	0.19238	0.000000	0.08366	0.001000	0.02609	.	.	.	964	0.07719	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2279.98	38	chr1	120809819	.	G	A	2279.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.820e-01;DP=1275;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=42.77;MQRankSum=2.20;QD=7.19;ReadPosRankSum=-1.888e+00;SOR=0.706	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1301	20	0	1	0
chr1	120809823	120809823	A	G	exonic	NBPF26	.	nonsynonymous SNV	NBPF26:NM_001351372:exon4:c.A506G:p.D169G,	.	.	439	1055	23	5	0	33	0.015399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1403692093	0.0004	0.0004	0.0003	0.0005	0.0046	0.0004	0.0004	0.0035	0.0034	0	0.0006	0.0003	0	0	0.0046	0.0001	0.0009	0.0039	0.0003	0.0003	0.0002	0.0004	0.0034	0.0002	0.0002	0.0021	0.0017	0	0	0.0003	0.0003	0.0002	0	0.0037	0.0003	0.0016	0.0034	.	.	.	0.039	0.67890	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.31925	.	.	.	.	.	.	.	0.061215937	0.07641	T	.	.	.	.	.	.	.	.	.	0.03205359752714085	0.03153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.682032	0.29067	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.40952	B	.;.;.;.;.	.;.;.;.;.	0.622834	0.09910	6.672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.086000	0.11198	-0.420000	0.09290	-0.536000	0.04945	0.094000	0.22667	0.000000	0.08366	0.003000	0.05239	.	.	.	964	0.07719	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	8100.66	140	chr1	120809823	.	A	G	8100.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.961e+00;DP=1535;ExcessHet=0.0000;FS=0.761;InbreedingCoeff=0.6412;MLEAC=3;MLEAF=0.071;MQ=44.32;MQRankSum=5.14;QD=24.47;ReadPosRankSum=2.66;SOR=0.600	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1301	19	1	1	0
chr1	120830484	120830484	C	T	exonic	NBPF26	.	nonsynonymous SNV	NBPF26:NM_001351372:exon20:c.C2597T:p.S866L,	.	.	804	706	12	0	0	12	0.00842697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	2.063	12.85	.	-0.414	0.768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1268864713	0.0018	0.0032	0.0019	0.0018	0.0020	0.0017	0.0017	0.0019	0.0018	0.0007	0.0004	0.0021	0	0.0042	0.0012	0.0020	0.0016	0.0016	0.0020	0.0032	0.0017	0.0024	0.0043	0.0018	0.0017	0.0024	0.0018	0.0008	0.0017	0.0009	0.0016	0	0.0066	0	0.0021	0.0022	0.0043	.	.	.	0.285	0.31427	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.165	0.17416	-1.0502	0.14341	T	0.010	0.03582	T	9	0.02374658	0.00631	T	0.001392	0.02037	T	.	.	.	.	0.185906805712	0.18197	0.008888954867445117	0.00851	.	.	.	.	.	.	.	.	-0.345525	0.05015	T	-0.734099	0.04145	T	0.1366984648069	0.15988	T	0.830817	0.54490	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.40114	B	.;.;.;.;.	.;.;.;.;.	0.058936	0.04704	1.342	0.24533630855159475	0.01089	0.00012	0.00170	N	AEFI	0.029886	0.02902	N	-0.81487840899404	0.12930	0.6335323	-1.12121065501673	0.07296	0.3543358	0.00728602839773751	0.11429	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.14	-2.28	0.06438	-2.140000	0.01387	-5.240000	0.01793	-1.021000	0.01731	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2612:0.2911:0.4477	2.403	0.04138	964	0.07719	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	39.98	15	chr1	120830484	.	C	T	39.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.804;DP=652;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0247;MLEAC=1;MLEAF=0.024;MQ=32.69;MQRankSum=0.122;QD=1.21;ReadPosRankSum=0.304;SOR=0.507	GT:AD:DP:GQ:PL	0/0:39,0:39:72:0,72,1080	20	0	1	0
chr1	120833757	120833757	T	A	exonic	NBPF26	.	nonsynonymous SNV	NBPF26:NM_001351372:exon24:c.T3190A:p.L1064M,	.	.	475	1046	1	0	0	1	0.000477783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.91e-05	9.03e-05	4.124e-05	7.462e-05	0.0006	4.359e-05	3.805e-05	0.0004	0.0004	0	0	0	0	0	0	0	3.228e-05	0.0006	0	4.432e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.193	0.28210	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.21	0.23380	.	.	.	.	.	.	.	0.0764111	0.11935	T	3.53E-4	0.00044	T	.	.	.	.	0.0297737177859	0.01360	0.005507849172910293	0.00520	.	.	.	.	.	.	.	.	-0.500705	0.00567	T	-0.957004	0.00241	T	0.050304150758773	0.05553	T	0.50365	0.15850	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.34711	B	.;.	.;.	1.907931	0.24231	16.32	0.88832254207567929	0.18291	0.00829	0.03338	N	AEFI	0.040239	0.05956	N	-0.787700677656018	0.13629	0.6728384	-1.02362607472465	0.09266	0.4600467	0.00177445814920537	0.08872	0.693126	0.56070	0	0.659464	0.62310	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	.	.	.	0.909000	0.28180	-7.994000	0.01047	0.171000	0.17763	0.010000	0.18352	0.000000	0.08366	0.003000	0.05239	.	.	.	964	0.07719	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	247.98	39	chr1	120833757	.	T	A	247.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.520e+00;DP=997;ExcessHet=0.0000;FS=0.810;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=37.04;MQRankSum=2.53;QD=1.95;ReadPosRankSum=-4.060e-01;SOR=0.601	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr1	121373993	121373993	A	T	exonic	SRGAP2C	.	nonsynonymous SNV	SRGAP2C:NM_001271872:exon6:c.A509T:p.Y170F	.	.	445	1076	1	0	0	1	0.000464468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.829e-06	4.771e-06	8.351e-06	0	3.374e-05	6.4e-07	2.4e-07	5.6e-06	2.09e-06	0	0	0	0	0	0	0	0	3.374e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.547	0.59308	.	.	.	.	.	.	.	0.4279192	0.57298	T	.	.	.	.	.	.	.	0.132336055621	0.12781	0.30267656855456443	0.30180	.	.	.	.	.	0.417188	0.76991	T	0.139403	0.68269	D	0.0630961	0.74450	D	.	.	.	0.996	0.99770	D	0.12778415	0.29893	0.27610996	0.53553	0.12778415	0.29893	0.27610996	0.53552	-5.78	0.44400	T	.	.	0.213	0.48219	B	.;.	.;.	4.908852	0.80750	27.4	0.94860654708678882	0.25671	0.95928	0.66761	D	AEFBI	.	.	.	.	.	.	.	.	.	0.0413265680525959	0.14479	0.139865	0.03177	0	0.097471	0.02872	0	0.175069	0.04249	0	0.344016	0.05766	0	0.757117	0.44945	2.35	2.35	0.28166	9.122000	0.93691	11.282000	0.91772	0.359000	0.20063	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	8.251	0.30884	976	0.04745	F-BAR domain;F-BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	58.99	35	chr1	121373993	.	A	T	58.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.04;DP=420;ExcessHet=0.0000;FS=10.387;InbreedingCoeff=-0.0253;MLEAC=1;MLEAF=0.024;MQ=35.95;MQRankSum=-3.211e+00;QD=1.47;ReadPosRankSum=2.01;SOR=2.550	GT:AD:DP:GQ:PL	0/0:7,0:7:21:0,21,232	20	0	1	0
chr1	121382843	121382843	A	G	exonic	SRGAP2C	.	nonsynonymous SNV	SRGAP2C:NM_001271872:exon8:c.A971G:p.D324G	.	.	683	837	2	0	0	2	0.00119332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.964e-06	1.59e-06	0	3.664e-06	0.0004	0	0	.	.	0	0	0	0	0	0.0004	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	0.92317	.	.	.	.	.	.	.	0.8682883	0.86083	D	.	.	.	.	.	.	.	0.173771789658	0.16945	0.8009779252245498	0.80051	.	.	.	.	.	0.426986	0.77661	T	0.532045	0.95201	D	0.526469	0.95130	D	.	.	.	0.999138	0.99663	D	0.20690127	0.42880	0.46359885	0.68862	0.20690127	0.42880	0.46359885	0.68862	-11.267	0.81102	D	.	.	0.867	0.80729	P	.;.	.;.	5.173476	0.86723	29.0	0.92405727635104196	0.21819	0.95933	0.66783	D	AEFI	.	.	.	.	.	.	.	.	.	0.0403644257333553	0.14436	0.322412	0.05557	0	0.31918	0.05746	0	0.331037	0.05861	0	0.370666	0.05837	0	0.777903	0.46011	2.33	2.33	0.27981	9.118000	0.93675	11.279000	0.91668	0.351000	0.19951	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	1.0:0.0:0.0:0.0	8.239	0.30805	976	0.04745	F-BAR domain;F-BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05263	320.35	33	chr1	121382843	.	A	G	320.35	.	AC=2;AF=0.053;AN=38;DP=247;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6875;MLEAC=2;MLEAF=0.053;MQ=36.33;QD=26.70;SOR=1.445	GT:AD:DP:GQ:PL	0/0:4,0:4:12:0,12,139	18	1	0	2
chr1	143905910	143905910	C	G	exonic	H3-2	.	nonsynonymous SNV	H3-2:NM_001355409:exon1:c.G57C:p.K19N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.000	U	0.999	D	.	.	.	.	-0.659	T	0.201	T	.	2.232	13.42	2.3	1.605	3.281	10.731	0.144	0.0107711016021	.	.	4.612e-05	0	0	0	0	8.544e-05	0	0	.	.	.	rs781949718	1.886e-05	1.937e-05	1.944e-05	1.826e-05	0.0006	1.291e-05	1.107e-05	0.0002	8.121e-05	6.016e-05	2.26e-05	0	0	0	0.0006	1.653e-05	5.064e-05	0	1.348e-05	2.664e-05	0	2.764e-05	2.441e-05	2.24e-06	8.4e-07	.	.	2.441e-05	0	0	0	0	0	0	1.514e-05	0	0	.	.	.	0.016	0.60972	D	.	.	.	.	.	.	0.000012	0.62929	U	0.000000	0.999	0.46326	D	.	.	.	.	.	.	.	.	.	0.559	0.58373	-0.6588	0.62329	T	0.201	0.55751	T	6	0.32355377	0.49691	T	0.010771	0.27684	T	0.144	0.38394	0.427	0.47350	0.166414681773	0.16258	0.1683042125071124	0.16750	2.67817289073	0.98522	.	.	.	.	.	.	0.0879706	0.62959	D	-0.00135432	0.70249	D	0.989185869693756	0.79436	D	0.950005	0.80823	D	.	.	.	.	.	.	.	.	-9.331	0.69802	D	.	.	0.801	0.77334	P	.	.	4.587642	0.72538	25.8	0.98722878208744513	0.45230	0.80785	0.40335	D	AEFDBHCI	0.472234	0.51744	N	0.0306217395000876	0.43252	2.621781	-0.0226135048565778	0.38695	2.284	0.999999796235114	0.74766	0.07523	0.01759	0	0.109994	0.03358	0	0.059349	0.00372	0	0.088244	0.02422	0	.	.	2.3	2.3	0.27735	4.348000	0.59158	0.541000	0.19334	0.407000	0.20612	1.000000	0.71638	0.998000	0.33993	0.081000	0.17303	0.0:1.0:0.0:0.0	10.731	0.45296	970	0.06235	Histone H2A/H2B/H3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2180.08	33	chr1	143905910	.	C	G	2180.08	.	AC=2;AF=0.048;AN=42;DP=777;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=43.33;QD=32.54;SOR=0.784	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1423	20	1	0	0
chr1	143973020	143973020	A	G	exonic	FAM72C	.	nonsynonymous SNV	FAM72C:NM_001346067:exon2:c.T92C:p.V31A,	.	.	713	808	1	0	0	1	0.000618429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	105.98	8	chr1	143973020	.	A	G	105.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.005e+00;DP=585;ExcessHet=0.0000;FS=3.424;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=24.00;MQRankSum=0.00;QD=8.83;ReadPosRankSum=-7.730e-01;SOR=0.055	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1080	20	0	1	0
chr1	144429712	144429712	C	A	exonic	NBPF15	.	nonsynonymous SNV	NBPF15:NM_001385417:exon9:c.G976T:p.V326F	.	.	684	837	1	0	0	1	0.000597015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1413195173	6.769e-05	5.072e-05	5.406e-05	7.977e-05	0.0005	4.895e-05	4.288e-05	5.811e-05	4.897e-05	0	4.543e-05	0	0	0	0.0005	8.452e-05	0.0002	0	3.769e-05	3.306e-05	2.886e-05	4.734e-05	7.8e-05	1.402e-05	9e-06	2.082e-05	1.299e-05	0	0	7.8e-05	0	0	0	0	6.354e-05	0	0	.	.	.	0.446	0.13103	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.18	0.07478	T	.	.	.	0.18	0.19459	.	.	.	.	.	.	.	0.08597696	0.14570	T	.	.	.	.	.	.	.	.	.	0.0031092792452635837	0.00289	.	.	.	.	.	0.015399	0.12927	T	.	.	.	.	.	.	.	.	.	0.744526	0.36463	T	.	.	.	.	.	.	.	.	-3.197	0.12444	T	.	.	0.197	0.42621	B	.;.;.	.;.;.	1.030016	0.14100	10.67	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.896000	0.04222	-20.000000	0.00162	-2.146000	0.00375	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	.	.	.	.	.	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	187.34	27	chr1	144429712	.	C	A	187.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-3.027e+00;DP=368;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0257;MLEAC=1;MLEAF=0.025;MQ=28.89;MQRankSum=-9.300e-02;QD=10.41;ReadPosRankSum=0.667;SOR=1.445	GT:AD:DP:GQ:PL	0/1:10,8:18:99:201,0,271	19	0	1	1
chr1	144435839	144435839	C	G	exonic	NBPF15	.	nonsynonymous SNV	NBPF15:NM_001385417:exon6:c.G508C:p.D170H	.	.	465	910	147	0	0	147	0.0747331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.331e-05	8.551e-05	0	2.723e-05	4.948e-05	2.21e-06	8.3e-07	8.2e-06	3.07e-06	4.948e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.027	0.55341	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.14	0.02839	T	.	.	.	0.126	0.11912	.	.	.	.	.	.	.	0.072508216	0.10832	T	.	.	.	.	.	.	.	.	.	0.02086796461604304	0.02039	.	.	.	.	.	0.035888	0.23893	T	.	.	.	.	.	.	.	.	.	0.874313	0.58483	D	.	.	.	.	.	.	.	.	-7.302	0.56210	T	.	.	0.149	0.32945	B	.;.;.	.;.;.	0.829778	0.12010	8.569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.760000	0.01905	-4.297000	0.02231	-3.345000	0.00094	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	404.84	72	chr1	144435839	.	C	G	404.84	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-4.463e+00;DP=1565;ExcessHet=0.7148;FS=12.124;InbreedingCoeff=-0.1183;MLEAC=4;MLEAF=0.100;MQ=31.23;MQRankSum=-1.852e+00;QD=1.07;ReadPosRankSum=2.75;SOR=2.975	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,9:114:62:0|1:144435839_C_G:62,0,4337:144435839	16	0	4	1
chr1	144436988	144436988	C	A	exonic	NBPF15	.	nonsynonymous SNV	NBPF15:NM_001385417:exon5:c.G400T:p.D134Y	.	.	421	1019	82	0	0	82	0.0386792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.214	B	0.159	B	.	.	0.993	N	.	.	4.05	T	-0.982	T	0.021	T	0.529	-1.236	0.056	-0.832	-1.695	0.153	2.650	0.239	0.00173396275964	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380003639	6.67e-05	0.0008	3.836e-05	9.469e-05	0.0002	5.505e-05	5.067e-05	5.739e-05	5.275e-05	6.954e-05	2.266e-05	0	7.861e-05	9.577e-05	0.0002	7.186e-05	1.878e-05	4.901e-05	8.14e-05	0.0010	7.933e-05	8.359e-05	0.0004	4.632e-05	3.619e-05	7.758e-05	3.166e-05	0.0001	0	6.769e-05	0	0	0	0	7.498e-05	0	0.0004	.	.	.	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.05	0.03092	T	.	.	.	0.247	0.27910	.	.	.	.	.	.	.	0.16393486	0.30683	T	.	.	.	.	.	.	.	.	.	0.03106088496578435	0.03055	.	.	.	.	.	0.233658	0.60051	T	.	.	.	.	.	.	.	.	.	0.712529	0.32403	T	.	.	.	.	.	.	.	.	-10.07	0.74330	D	.	.	0.173	0.40618	B	.;.;.	.;.;.	0.956282	0.13325	9.829	.	.	.	.	.	.	0.027387	0.02229	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.053000	0.11802	-20.000000	0.00162	0.201000	0.17923	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05263	230.55	33	chr1	144436988	.	C	A	230.55	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.83;DP=1577;ExcessHet=0.1072;FS=80.919;InbreedingCoeff=-0.0769;MLEAC=2;MLEAF=0.053;MQ=37.40;MQRankSum=-4.958e+00;QD=0.69;ReadPosRankSum=-1.094e+00;SOR=5.092	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1202	17	0	2	2
chr1	144892167	144892167	C	G	exonic	SRGAP2B	.	nonsynonymous SNV	SRGAP2B:NM_001385227:exon9:c.G1310C:p.G437A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1268454149	0.0065	0.0065	0.0072	0.0059	0.1022	0.0063	0.0063	0.0995	0.0983	0.0003	0.0002	0	0.1022	3.766e-05	0	0.0003	0.0062	0.0012	0.0045	0.0044	0.0040	0.0050	0.1133	0.0042	0.0041	0.1057	0.1027	0.0003	0	0.0017	0	0.1133	0	0	0.0002	0.0053	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.13484	.	.	.	.	.	.	.	0.003936857	0.00075	T	.	.	.	.	.	.	.	.	.	0.5501542314546787	0.54941	.	.	.	.	.	0.006554	0.05980	T	.	.	.	.	.	.	.	.	.	0.373463	0.08871	T	.	.	.	.	.	.	.	.	-3.74	0.19910	T	.	.	0.114	0.28920	B	.;.;.	.;.;.	0.541041	0.09098	5.879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.474000	0.21858	0.170000	0.15507	0.284000	0.18682	0.004000	0.16614	0.005000	0.19230	0.320000	0.24970	.	.	.	645	0.63593	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	874.98	34	chr1	144892167	.	C	G	874.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.566;DP=851;ExcessHet=0.0000;FS=0.684;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=36.87;MQRankSum=-2.209e+00;QD=5.83;ReadPosRankSum=0.621;SOR=0.595	GT:AD:DP:GQ:PL	0/1:102,48:150:99:889,0,2481	20	0	1	0
chr1	144905921	144905921	G	A	exonic	SRGAP2B	.	nonsynonymous SNV	SRGAP2B:NM_001385227:exon5:c.C577T:p.R193C	.	.	438	1081	3	0	0	3	0.00138568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1379140708	0.0001	0.0001	0.0001	0.0001	0.0045	9.459e-05	8.626e-05	0.0027	0.0022	6.455e-05	5.775e-05	0.0002	0	2.045e-05	0.0045	0.0001	0.0002	9.618e-05	6.25e-05	5.953e-05	0.0001	1.427e-05	8.962e-05	3.235e-05	2.424e-05	3.813e-05	2.608e-05	0	0	0	0.0006	0	0	0.0036	8.962e-05	0	0	.	.	.	0.001	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	0.41557	.	.	.	.	.	.	.	0.32622284	0.49922	T	.	.	.	.	.	.	.	.	.	0.502443312018618	0.50166	.	.	.	.	.	0.107092	0.41901	T	.	.	.	.	.	.	.	.	.	0.986801	0.95481	D	.	.	.	.	.	.	.	.	-10.819	0.78656	D	.	.	0.222	0.52833	B	.;.;.	.;.;.	5.524464	0.91810	32	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.877000	0.39234	9.774000	0.81567	0.318000	0.19305	1.000000	0.71638	1.000000	0.68203	0.756000	0.36000	.	.	.	614	0.66605	F-BAR domain;F-BAR domain;F-BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	105.0	18	chr1	144905921	.	G	A	105.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.72;DP=383;ExcessHet=0.0000;FS=1.952;InbreedingCoeff=-0.0257;MLEAC=1;MLEAF=0.024;MQ=26.47;MQRankSum=-1.227e+00;QD=5.83;ReadPosRankSum=1.55;SOR=1.329	GT:AD:DP:GQ:PL	0/0:21,0:21:60:0,60,731	20	0	1	0
chr1	144905947	144905947	C	T	exonic	SRGAP2B	.	nonsynonymous SNV	SRGAP2B:NM_001385227:exon5:c.G551A:p.R184H	.	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1351671972	0.0082	0.0076	0.0086	0.0079	0.0109	0.0080	0.0079	0.0106	0.0105	0.0014	0.0035	0.0230	0	0.0041	0	0.0109	0.0097	0.0014	0.0071	0.0070	0.0076	0.0066	0.0111	0.0067	0.0066	0.0104	0.0102	0.0018	0	0.0044	0.0239	0	0.0052	0	0.0111	0.0035	0.0018	.	.	.	0.163	0.31125	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.369	0.41063	.	.	.	.	.	.	.	0.02462086	0.00684	T	.	.	.	.	.	.	.	.	.	0.4651430743002669	0.46433	.	.	.	.	.	0.024893	0.18723	T	.	.	.	.	.	.	.	.	.	0.979902	0.93196	D	.	.	.	.	.	.	.	.	-6.657	0.51486	T	.	.	0.186	0.46938	B	.;.;.	.;.;.	5.441154	0.90940	32	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.695000	0.67940	6.013000	0.52675	0.284000	0.18682	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	.	.	.	614	0.66605	F-BAR domain;F-BAR domain;F-BAR domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	436.98	20	chr1	144905947	.	C	T	436.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.07;DP=425;ExcessHet=0.0000;FS=6.761;InbreedingCoeff=-0.0249;MLEAC=1;MLEAF=0.024;MQ=30.39;MQRankSum=0.102;QD=18.21;ReadPosRankSum=1.56;SOR=0.557	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,1116	20	0	1	0
chr1	144914735	144914735	T	-	exonic	SRGAP2B	.	frameshift deletion	SRGAP2B:NM_001385228:exon4:c.173delA:p.Q58Rfs*6	.	.	639	880	3	0	0	3	0.00170164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1486906090	0.0001	9.223e-05	0.0001	0.0001	0.0015	8.28e-05	7.367e-05	0.0004	0.0002	8.12e-05	5.289e-05	0	0	2.319e-05	0.0015	0.0002	7.716e-05	0	4.348e-05	5.295e-05	4.184e-05	4.524e-05	9.533e-05	1.861e-05	1.225e-05	4.117e-05	2.742e-05	0	0	0	0	0	0	0	9.533e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	138.94	13	chr1	144914734	.	CT	C	138.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.920e-01;DP=437;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=24.51;MQRankSum=0.030;QD=4.63;ReadPosRankSum=0.364;SOR=0.430	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,747	20	0	1	0
chr1	145103029	145103029	G	A	exonic	FAM72C;FAM72D	.	nonsynonymous SNV	FAM72D:NM_001345942:exon3:c.G253A:p.V85M	.	.	578	941	3	0	0	3	0.00159151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs28685127	0.0029	0.0029	0.0030	0.0028	0.0946	0.0028	0.0028	0.0920	0.0910	0.0001	0.0002	3.831e-05	0.0946	0	0	2.25e-05	0.0061	0.0011	0.0034	0.0035	0.0030	0.0038	0.0889	0.0031	0.0031	0.0820	0.0793	0.0004	0	0.0014	0	0.0889	0	0	2.978e-05	0.0064	0.0030	0.001	0.78490	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.84	0.47477	T	-2.47	0.53898	N	0.82	0.81559	.	.	.	.	.	.	.	0.040254056	0.02578	T	.	.	.	.	.	.	.	.	.	0.544895775715899	0.54415	.	.	.	.	.	0.122198	0.44569	T	.	.	.	.	.	.	.	.	.	0.968103	0.88413	D	.	.	.	.	.	.	.	.	-9.328	0.69782	D	.	.	0.244	0.47827	B	.	.	4.925605	0.81165	27.5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.350000	0.96469	11.864000	0.98398	0.318000	0.19305	1.000000	0.71638	1.000000	0.68203	0.801000	0.37776	.	.	.	793	0.45818	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1058.98	34	chr1	145103029	.	G	A	1058.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.447e+00;DP=832;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=34.32;MQRankSum=-3.830e-01;QD=7.46;ReadPosRankSum=-6.330e-01;SOR=0.650	GT:AD:DP:GQ:PL	0/1:85,57:142:99:1073,0,1811	20	0	1	0
chr1	145241985	145241985	C	T	exonic	PPIAL4D;PPIAL4E;PPIAL4F	.	nonsynonymous SNV	PPIAL4E:NM_001144032:exon1:c.G140A:p.R47H	.	.	577	942	3	0	0	3	0.00158983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.001	B	0.001	B	0.000	N	0.999	N	-2.185	N	1.98	T	-0.906	T	0.003	T	0.071	-0.174	3.152	-0.837	-3.236	3.681	3.663	0.127	0.192108095742	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450763932	0.0036	0.0042	0.0038	0.0035	0.0044	0.0035	0.0035	0.0042	0.0042	0.0004	0.0026	0.0004	0	0.0021	0.0019	0.0044	0.0029	0.0020	0.0019	0.0028	0.0019	0.0020	0.0031	0.0017	0.0017	0.0028	0.0026	0.0005	0	0.0022	0	0	0.0013	0	0.0031	0.0060	0.0009	0.137	0.25979	T	0.19	0.28482	T	.	.	.	.	.	.	0.000087	0.51296	N	0.128764	0.998812	0.21886	N	.	.	.	1.98	0.21865	T	0.41	0.03407	N	0.105	0.08925	-0.9058	0.47355	T	0.003	0.00800	T	10	0.084634274	0.14205	T	0.192108	0.86224	D	.	.	0.679	0.81691	0.0138822411134	0.00435	0.32766997704891854	0.32679	.	.	0.468048810959	0.34412	T	9.62E-4	0.00509	T	-0.327163	0.06329	T	-0.707723	0.05414	T	0.796152830123901	0.46095	D	0.787321	0.42620	T	0.024300369	0.01248	0.02574516	0.00631	0.024300369	0.01247	0.02574516	0.00630	-4.981	0.36633	T	.	.	0.092	0.13597	B	.	.	1.557744	0.19955	14.52	0.7721804143403922	0.11784	0.47194	0.27929	N	AEFI	0.207469	0.33364	N	-2.09208996849776	0.00133	0.005705888	-2.03517429235918	0.00258	0.01136978	2.1143370172259E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.419	-0.837	0.10221	2.901000	0.48393	0.079000	0.14366	-0.945000	0.02064	1.000000	0.71638	0.388000	0.24649	0.002000	0.04165	0.2247:0.5691:0.0:0.2063	3.663	0.07783	485	0.77085	Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	102.37	17	chr1	145241985	.	C	T	102.37	.	AC=1;AF=0.025;AN=40;BaseQRankSum=3.64;DP=306;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0277;MLEAC=1;MLEAF=0.025;MQ=24.53;MQRankSum=0.342;QD=5.12;ReadPosRankSum=0.867;SOR=0.693	GT:AD:DP:GQ:PL	0/0:18,0:18:48:0,48,720	19	0	1	1
chr1	145242006	145242006	C	T	exonic	PPIAL4D;PPIAL4E;PPIAL4F	.	nonsynonymous SNV	PPIAL4E:NM_001144032:exon1:c.G119A:p.S40N	.	.	.	.	.	.	.	.	.	.	.	2341926	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	0.14	B	0.187	B	0.001	U	0.987	N	1.485	L	0.92	T	-1.018	T	0.040	T	0.18	1.466	10.85	0.419	0.473	2.762	6.629	0.082	0.144973943058	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1172283094	0.0085	0.0081	0.0088	0.0082	0.0101	0.0083	0.0083	0.0099	0.0098	0.0010	0.0039	0.0203	0	0.0036	0.0003	0.0101	0.0093	0.0012	0.0055	0.0057	0.0060	0.0050	0.0090	0.0052	0.0051	0.0083	0.0081	0.0014	0	0.0041	0.0197	0	0.0038	0	0.0090	0.0035	0.0013	0.104	0.29959	T	0.076	0.42614	T	.	.	.	.	.	.	0.000663	0.42516	U	0.235838	0.987244	0.24536	N	.	.	.	0.92	0.44461	T	-2.42	0.53096	N	0.351	0.39254	-1.0180	0.24366	T	0.040	0.17404	T	10	0.046268016	0.03796	T	0.144974	0.82720	D	.	.	0.735	0.86806	0.0297737177859	0.01360	0.28233080156537	0.28146	.	.	0.542795062065	0.44840	T	0.036137	0.23989	T	-0.212465	0.19033	T	-0.542968	0.18006	T	0.437840729951859	0.30349	T	0.246275	0.03611	T	0.11299163	0.26688	0.11391963	0.27496	0.11299163	0.26688	0.11391963	0.27495	-11.642	0.83063	D	.	.	0.222	0.45285	B	.	.	1.402932	0.18172	13.59	0.87159605435859233	0.17030	0.53535	0.29395	D	AEFI	0.231678	0.35487	N	-0.620571799912635	0.18327	0.9505972	-0.699736105483794	0.16967	0.9000518	0.00182733019137539	0.08920	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.419	0.419	0.15657	2.906000	0.48432	0.619000	0.20111	0.213000	0.18003	1.000000	0.71638	0.999000	0.35428	0.114000	0.18915	0.0:0.9998:0.0:2.0E-4	6.629	0.22038	485	0.77085	Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	102.37	15	chr1	145242006	.	C	T	102.37	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.343;DP=248;ExcessHet=0.0000;FS=5.006;InbreedingCoeff=-0.0279;MLEAC=1;MLEAF=0.025;MQ=24.44;MQRankSum=-2.040e-01;QD=5.39;ReadPosRankSum=1.45;SOR=0.045	GT:AD:DP:GQ:PL	0/0:14,0:14:30:0,30,536	19	0	1	1
chr1	145673800	145673800	T	G	exonic	PDZK1	.	nonsynonymous SNV	PDZK1:NM_001201326:exon5:c.A739C:p.T247P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.125	N	0.984	N	-1.95	N	2.36	T	-0.939	T	0.003	T	0.066	-2.234	0.005	3.37	1.291	1.511	10.565	0.098	0.00245089654178	.	.	.	.	.	.	.	.	.	.	.	.	.	rs137949277	0.0006	0.0006	0.0007	0.0005	0.0187	0.0005	0.0005	0.0174	0.0170	0.0187	0.0011	0.0007	0	0	0.0012	4.318e-05	0.0013	3.482e-05	0.0053	0.0053	0.0054	0.0051	0.0183	0.0050	0.0048	0.0172	0.0168	0.0183	0	0.0018	0.0003	0	0	0.0034	4.415e-05	0.0052	0	0.271	0.15984	T	0.26	0.23029	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.36	0.16089	T	0.37	0.03639	N	0.056	0.02759	.	.	.	.	.	.	.	0.008852422	0.00200	T	.	.	.	.	.	.	.	.	.	0.4477185568517741	0.44689	.	.	.	.	.	0.079262	0.36088	T	.	.	.	.	.	.	.	.	.	0.509249	0.17252	T	.	.	.	.	.	.	.	.	-2.873	0.08876	T	.	.	0.057	0.00514	B	.;.;.	.;.;.	1.255094	0.16525	12.59	.	.	.	.	.	.	0.456537	0.50836	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.894000	0.27983	0.444000	0.18454	-0.849000	0.02733	0.775000	0.29414	0.000000	0.08366	0.584000	0.30992	.	.	.	272	0.89337	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	499.98	33	chr1	145673800	.	T	G	499.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.161;DP=779;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=42.74;MQRankSum=-2.176e+00;QD=5.56;ReadPosRankSum=0.272;SOR=0.729	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1124	20	0	1	0
chr1	145872067	145872067	C	A	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G2432T:p.R811L	.	.	432	1087	2	1	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.487	P	0.056	B	0.000	D	1.000	D	2.24	M	0.34	T	-1.010	T	0.084	T	0.378	3.406	17.50	4.56	1.514	2.599	12.050	0.079	0.00254317554264	.	.	.	.	.	.	.	.	.	.	.	.	.	rs370875034	0.0013	0.0013	0.0007	0.0019	0.0208	0.0013	0.0012	0.0200	0.0197	0	2.236e-05	0	0	0	0.0007	2.788e-05	0.0012	0.0208	0.0007	0.0007	0.0004	0.0010	0.0209	0.0006	0.0005	0.0176	0.0164	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0209	0.012	0.54683	D	0.028	0.54934	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	0.56772	T	-0.96	0.25551	N	0.702	0.71765	.	.	.	.	.	.	.	0.07752633	0.12245	T	.	.	.	.	.	.	.	.	.	0.923937770568121	0.92370	.	.	.	.	.	0.100106	0.40556	T	.	.	.	.	.	.	.	.	.	0.861914	0.55630	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.48029	B	.;.	.;.	4.188942	0.63122	24.5	.	.	.	.	.	.	0.389917	0.46895	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.011000	0.40542	5.944000	0.51530	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.911000	0.44643	.	.	.	.	.	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1841.98	34	chr1	145872067	.	C	A	1841.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.070e-01;DP=840;ExcessHet=0.0000;FS=4.062;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=-6.840e-01;SOR=0.436	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1079	20	0	1	0
chr1	145872428	145872428	C	T	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G2071A:p.A691T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.998	D	0.963	D	0.000	D	1.000	D	1.79	L	0.53	T	-0.901	T	0.193	T	0.224	4.029	20.7	5.22	2.703	4.141	14.149	0.135	0.00128427879181	.	.	1.055e-05	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs782724338	4.109e-06	4.788e-06	2.725e-06	5.508e-06	6.979e-05	1.48e-06	9.7e-07	3.003e-05	2.043e-05	0	0	0	0	0	0	0	0	6.979e-05	6.575e-06	6.569e-06	0	1.346e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.041	0.41915	D	0.023	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	0.55090	T	-1.25	0.31576	N	0.47	0.52563	.	.	.	.	.	.	.	0.30376267	0.47905	T	.	.	.	.	.	.	.	.	.	0.13036519158414628	0.12961	.	.	.	.	.	0.029237	0.20994	T	.	.	.	.	.	.	.	.	.	0.834417	0.50357	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.25624	B	.;.	.;.	3.609152	0.51017	23.0	.	.	.	.	.	.	0.379761	0.46266	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.919000	0.28312	7.649000	0.63599	0.599000	0.40250	0.001000	0.13787	1.000000	0.68203	0.790000	0.37311	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1423.98	57	chr1	145872428	.	C	T	1423.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.600e-02;DP=1233;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=-1.416e+00;SOR=0.728	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	20	0	1	0
chr1	145872713	145872713	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1786C:p.A596P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.635e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.59037	T	-1.95	0.45222	N	0.526	0.55540	.	.	.	.	.	.	.	0.42498738	0.57114	T	.	.	.	.	.	.	.	.	.	0.8187195895967326	0.81828	.	.	.	.	.	0.082225	0.36779	T	.	.	.	.	.	.	.	.	.	0.812719	0.46458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.77826	P	.;.	.;.	3.961182	0.58095	23.9	.	.	.	.	.	.	0.492730	0.52925	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.132000	0.41706	4.040000	0.41416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	2354.68	101	chr1	145872713	.	C	G	2354.68	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-3.628e+00;DP=2761;ExcessHet=20.9642;FS=143.279;InbreedingCoeff=-0.5874;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=1.11;ReadPosRankSum=0.894;SOR=12.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,24:139:99:0|1:145872713_C_G:102,0,3840:145872713	5	0	16	0
chr1	145872714	145872714	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1785C:p.E595D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.069	0.43913	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	0.57419	T	-1.48	0.36189	N	0.138	0.13626	.	.	.	.	.	.	.	0.13870499	0.26377	T	.	.	.	.	.	.	.	.	.	0.4799690801717402	0.47916	.	.	.	.	.	0.054385	0.29709	T	.	.	.	.	.	.	.	.	.	0.768923	0.39853	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.42763	B	.;.	.;.	3.406129	0.47225	22.4	.	.	.	.	.	.	0.196541	0.32351	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344000	0.19703	1.359000	0.25866	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.977000	0.56843	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.35	2100.21	101	chr1	145872714	.	C	G	2100.21	.	AC=14;AF=0.350;AN=40;BaseQRankSum=-4.135e+00;DP=2664;ExcessHet=14.4320;FS=138.726;InbreedingCoeff=-0.4963;MLEAC=14;MLEAF=0.350;MQ=60.00;MQRankSum=0.00;QD=1.14;ReadPosRankSum=0.919;SOR=11.988	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,24:139:99:0|1:145872713_C_G:102,0,3840:145872713	6	0	14	1
chr1	145874987	145874987	A	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon6:c.T310C:p.C104R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.999	D	0.000	D	1.000	D	2.63	M	-0.15	T	-0.332	T	0.363	T	0.928	4.082	21.0	5.55	2.234	3.419	12.377	0.567	0.00138499718359	.	.	.	.	.	.	.	.	.	.	.	.	.	rs146839643	0.0004	0.0004	0.0004	0.0004	0.0129	0.0004	0.0004	0.0120	0.0116	0	0	0	0.0129	1.875e-05	0	3.606e-06	0.0005	0.0004	0.0004	0.0004	0.0004	0.0005	0.0112	0.0003	0.0003	0.0089	0.0081	0	0	0	0	0.0112	0	0	0	0.0005	0.0010	0.0	0.91255	D	0.059	0.56640	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.14	0.65006	T	-10.51	0.99062	D	0.904	0.92550	.	.	.	.	.	.	.	0.7153874	0.73312	D	.	.	.	.	.	.	.	.	.	0.9953492462410516	0.99531	.	.	.	.	.	0.090629	0.38625	T	.	.	.	.	.	.	.	.	.	0.718628	0.33152	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.983	0.91837	P	.;.	.;.	5.205884	0.87343	29.2	.	.	.	.	.	.	0.561719	0.56960	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.556000	0.67011	11.144000	0.87156	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	.	.	.	.	.	.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1290.98	33	chr1	145874987	.	A	G	1290.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.559e+00;DP=792;ExcessHet=0.0000;FS=0.753;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.53;ReadPosRankSum=-1.550e-01;SOR=0.787	GT:AD:DP:GQ:PL	0/1:50,53:103:99:1305,0,1346	20	0	1	0
chr1	145876168	145876168	G	A	exonic	ANKRD35	.	stopgain	ANKRD35:NM_001280799:exon5:c.C262T:p.R88X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs151076205	5.61e-05	5.678e-05	5.582e-05	5.639e-05	0.0002	4.61e-05	4.237e-05	0.0001	9.194e-05	0	0.0002	3.826e-05	7.557e-05	0	0	5.936e-05	3.312e-05	0	1.315e-05	1.313e-05	2.571e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.25253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	8.288158	0.97388	37	.	.	.	.	.	.	0.167881	0.29459	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.436000	0.34590	5.643000	0.49156	0.656000	0.54149	0.997000	0.40164	1.000000	0.68203	0.895000	0.43227	.	.	.	.	.	.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1083.98	34	chr1	145876168	.	G	A	1083.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.123;DP=823;ExcessHet=0.0000;FS=0.793;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=-1.519e+00;SOR=0.573	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1161	20	0	1	0
chr1	145994976	145994976	C	G	exonic	TXNIP	.	nonsynonymous SNV	TXNIP:NM_001313972:exon3:c.G362C:p.G121A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.88	0.23884	T	-4.89	0.81431	D	0.924	0.92784	.	.	.	.	.	.	.	0.9178163	0.91140	D	.	.	.	.	.	.	.	.	.	0.9961424302840691	0.99612	.	.	.	.	.	0.408319	0.76368	T	.	.	.	.	.	.	.	.	.	0.944306	0.83579	D	.	.	.	.	.	.	.	.	-11.37	0.83767	D	.	.	0.985	0.92114	P	.;.	.;.	4.940421	0.81522	27.6	.	.	.	.	.	.	0.931454	0.92031	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.420000	0.73257	7.623000	0.62394	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.886000	0.42526	.	.	.	958	0.09170	Arrestin C-terminal-like domain|Arrestin C-terminal-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2588.98	232	chr1	145994976	.	C	G	2588.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.339;DP=913;ExcessHet=0.0000;FS=0.480;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=0.325;SOR=0.641	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1210	20	0	1	0
chr1	146067235	146067235	C	T	exonic	NBPF10	.	nonsynonymous SNV	NBPF10:NM_001039703:exon85:c.G10582A:p.E3528K	.	.	651	848	21	2	0	25	0.0145264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99	T	0.713	P	0.678	P	.	.	1.000	N	0.55	N	4.03	T	-1.014	T	0.003	T	0.362	-2.093	0.006	.	-2.037	-2.442	.	0.051	.	.	.	0.3095	0.25	0	0	.	0.3557	0.5	0.25	0.0018826	49	26028	rs782346895	0.0009	0.0030	0.0007	0.0010	0.0046	0.0008	0.0008	0.0040	0.0037	0.0016	0.0017	0.0002	0.0046	0.0005	0.0010	0.0004	0.0011	0.0008	0.0005	0.0017	0.0005	0.0005	0.0016	0.0004	0.0004	0.0007	0.0006	0.0010	0	0.0006	0	0.0016	0.0002	0	0.0001	0.0007	0.0011	.	.	.	0.051	0.47828	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.25867	.	.	.	.	.	.	.	0.028234512	0.00958	T	.	.	.	.	.	.	.	.	.	0.008707865764252615	0.00834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.676832	0.35895	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.52285	B	.;.	.;.	-0.114190	0.03558	0.685	.	.	.	.	.	.	0.017718	0.00484	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.877000	0.04305	0.000000	0.13247	.	.	0.001000	0.13787	0.033000	0.21346	.	.	.	.	.	958	0.09170	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.09524	552.03	20	chr1	146067235	.	C	T	552.03	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-1.114e+00;DP=529;ExcessHet=0.6776;FS=6.040;InbreedingCoeff=-0.1073;MLEAC=4;MLEAF=0.095;MQ=43.46;MQRankSum=-3.188e+00;QD=3.94;ReadPosRankSum=-5.070e-01;SOR=0.336	GT:AD:DP:GQ:PL	0/0:25,0:25:61:0,61,799	17	0	4	0
chr1	146069594	146069594	C	T	exonic	NBPF10	.	nonsynonymous SNV	NBPF10:NM_001039703:exon82:c.G10252A:p.A3418T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	.	.	.	.	.	.	1.000	N	1.2	L	3.26	T	-0.931	T	0.008	T	0.038	0.560	7.027	-0.605	-0.144	-0.255	4.415	0.007	0.000149198330203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.049e-05	9.243e-05	4.262e-05	7.842e-05	0.0005	5.003e-05	4.609e-05	0.0003	0.0003	0	0	0	0	0	0.0002	4.13e-05	1.727e-05	0.0005	8.16e-06	2.671e-05	0	1.681e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.029	0.54541	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.20129	.	.	.	.	.	.	.	0.083289355	0.13838	T	.	.	.	.	.	.	.	.	.	0.004073885125280471	0.00382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732227	0.34774	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.58697	A	.;.	.;.	-0.410275	0.02174	0.213	.	.	.	.	.	.	0.019863	0.00729	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.178000	0.03203	-9.304000	0.00839	-1.327000	0.01220	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	958	0.09170	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	714.98	130	chr1	146069594	.	C	T	714.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.221e+00;DP=1597;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=45.26;MQRankSum=0.484;QD=5.50;ReadPosRankSum=-1.490e+00;SOR=0.670	GT:AD:DP:GQ:PL	0/0:59,0:59:99:0,120,1800	20	0	1	0
chr1	146069632	146069632	C	T	exonic	NBPF10	.	nonsynonymous SNV	NBPF10:NM_001039703:exon82:c.G10214A:p.C3405Y	.	.	435	1084	2	0	1	3	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	.	.	.	.	.	.	1.000	N	0.205	N	3.29	T	-0.925	T	0.003	T	0.057	-2.482	0.003	-1.31	-1.035	-0.321	5.020	0.019	0.000460893155156	.	.	8.675e-06	0	8.895e-05	0	0	0	0	0	.	.	.	rs587652859	3.55e-05	4.037e-05	2.912e-05	4.193e-05	0.0010	2.744e-05	2.481e-05	0.0003	0.0002	0	0	3.88e-05	0	0	0.0010	2.471e-05	6.774e-05	0.0002	3.955e-05	3.983e-05	4.606e-05	3.263e-05	8.61e-05	1.556e-05	9.4e-06	3.342e-05	2.124e-05	0	0	0	0	0	0	0	8.61e-05	0	0	.	.	.	0.156	0.31833	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.20262	.	.	.	.	.	.	.	0.10535896	0.19471	T	.	.	.	.	.	.	.	.	.	0.009178284301519223	0.00880	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.645335	0.25688	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.64173	B	.;.	.;.	-1.106630	0.00632	0.017	.	.	.	.	.	.	0.020549	0.00823	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.334000	0.01187	-20.000000	0.00162	-2.799000	0.00185	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	958	0.09170	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1811.98	102	chr1	146069632	.	C	T	1811.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.579;DP=1518;ExcessHet=0.0000;FS=5.357;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=52.39;MQRankSum=3.30;QD=7.11;ReadPosRankSum=0.783;SOR=1.046	GT:AD:DP:GQ:PL	0/0:59,0:59:99:0,120,1800	20	0	1	0
chr1	146134258	146134258	G	C	exonic	NBPF10	.	nonsynonymous SNV	NBPF10:NM_001039703:exon9:c.C1314G:p.D438E	.	.	432	1070	19	1	0	21	0.00971772	.	.	3409357	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1381967314	0.0049	0.0064	0.0049	0.0048	0.0088	0.0048	0.0047	0.0066	0.0058	0.0005	0.0046	0.0007	2.522e-05	0.0058	0.0088	0.0054	0.0046	0.0032	0.0042	0.0048	0.0042	0.0042	0.0058	0.0040	0.0039	0.0053	0.0051	0.0011	0	0.0051	0.0009	0.0002	0.0078	0.0102	0.0058	0.0074	0.0035	.	.	.	0.265	0.22694	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.06	0.39781	T	.	.	.	0.072	0.04547	.	.	.	.	.	.	.	0.011097819	0.00244	T	.	.	.	.	.	.	.	.	.	0.061565213573734096	0.06096	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.472753	0.14054	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.50490	B	.	.	-0.323164	0.02517	0.299	.	.	.	.	.	.	0.030114	0.02969	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.791000	0.04705	.	.	-0.696000	0.04083	0.005000	0.17040	.	.	0.002000	0.04165	.	.	.	958	0.09170	Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	715.33	45	chr1	146134258	.	G	C	715.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-3.060e+00;DP=916;ExcessHet=0.0000;FS=0.592;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=50.28;MQRankSum=-9.777e+00;QD=3.67;ReadPosRankSum=-1.128e+00;SOR=0.755	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1360	19	0	1	1
chr1	146964967	146964967	G	A	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon11:c.G641A:p.S214N,	.	.	421	1088	13	0	0	13	0.00593878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.013	T	0.022	T	.	0.584	7.152	-1.92	-1.820	-3.207	2.594	0.023	0.000777120838498	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs587765598	0.0005	0.0005	0.0003	0.0007	0.0065	0.0005	0.0005	0.0061	0.0059	0	0.0002	0	0	1.873e-05	0.0039	0.0001	0.0006	0.0065	0.0003	0.0003	0.0002	0.0004	0.0050	0.0002	0.0002	0.0034	0.0029	2.503e-05	0	0.0003	0	0	0	0	0.0002	0.0010	0.0050	.	.	.	0.097	0.39190	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.174	0.20262	-0.9673	0.37754	T	0.012	0.04605	T	9	0.011872321	0.00258	T	7.77E-4	0.00588	T	.	.	0.483	0.56462	0.0482279557977	0.04254	0.009089681465782299	0.00871	.	.	.	.	.	.	.	.	-0.289581	0.09678	T	-0.653739	0.08694	T	0.0666254124198251	0.08169	T	0.930707	0.76258	D	0.039577477	0.05492	0.08988931	0.21048	0.039577477	0.05492	0.08988931	0.21047	-9.486	0.70772	D	.	.	0.200	0.42621	B	.;.;.;.;.	.;.;.;.;.	0.613225	0.09819	6.581	0.81185679621847973	0.13561	0.00094	0.00618	N	AEFI	0.024869	0.01609	N	-0.983354325499337	0.08958	0.4220871	-1.25323829152858	0.05083	0.2413656	5.90869656841733E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.08	-2.15	0.06705	-0.404000	0.07267	-9.600000	0.00800	0.272000	0.18543	0.002000	0.15269	0.000000	0.08366	0.004000	0.06068	0.192:0.0:0.326:0.482	2.537	0.04430	768	0.49510	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3795.11	51	chr1	146964967	.	G	A	3795.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.934;DP=1089;ExcessHet=0.1072;FS=1.355;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=53.60;MQRankSum=1.43;QD=12.16;ReadPosRankSum=1.12;SOR=0.800	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	19	0	2	0
chr1	146971310	146971310	G	C	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon16:c.G1507C:p.E503Q,	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	.	.	.	.	.	.	1.000	N	.	.	2.94	T	-0.938	T	0.008	T	0.113	1.505	10.98	-0.857	-0.819	0.143	2.362	0.061	0.000609193748879	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782445068	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0001	0.0002	0.0002	6.011e-05	0.0002	0.0001	0	0	0.0007	0.0002	0.0002	8.118e-05	9.282e-05	9.206e-05	0.0001	8.151e-05	0.0001	5.576e-05	4.402e-05	3.764e-05	2.576e-05	9.891e-05	0	0.0001	0	0	0	0	8.826e-05	0.0010	0	.	.	.	0.068	0.54541	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.109	0.14480	-0.9382	0.42900	T	0.008	0.02801	T	6	0.0598222	0.07250	T	6.09E-4	0.00289	T	.	.	.	.	0.0986583533028	0.09354	0.024901514381380482	0.02441	.	.	.	.	.	.	.	.	-0.171416	0.25019	T	-0.484003	0.24022	T	0.214030330941298	0.21161	T	0.943106	0.81346	D	0.043882176	0.06918	0.044744294	0.05865	0.043882176	0.06917	0.044744294	0.05865	-8.691	0.65687	D	.	.	0.179	0.39898	B	.;.;.;.;.	.;.;.;.;.	0.846900	0.12187	8.735	0.97849799708459029	0.36385	0.00123	0.00769	N	AEFI	0.014894	0.00257	N	-0.873489026298623	0.11476	0.5540041	-1.12442365652018	0.07236	0.3511928	1.9295087355931E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	0.971	-0.857	0.10151	0.719000	0.25552	-3.057000	0.03100	0.162000	0.17723	0.037000	0.20830	0.000000	0.08366	0.009000	0.08673	0.0:0.3203:0.2944:0.3853	2.362	0.04046	732	0.54084	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3777.98	42	chr1	146971310	.	G	C	3777.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.03;DP=1062;ExcessHet=0.0000;FS=2.445;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.35;MQRankSum=-1.760e-01;QD=12.23;ReadPosRankSum=0.696;SOR=0.649	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1235	20	0	1	0
chr1	146972783	146972783	A	G	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon17:c.A1624G:p.S542G,	.	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	.	.	.	.	.	.	1.000	N	.	.	4.03	T	-0.914	T	0.004	T	0.169	1.384	10.56	-0.463	-0.114	0.705	2.804	0.064	0.000733484572203	.	.	0.0003	0	0	0	0	0.0005	0	0	.	.	.	rs782437365	0.0001	0.0001	0.0001	0.0001	0.0006	9.888e-05	9.29e-05	0.0001	0.0001	3.801e-05	0	0.0007	0	0	0.0006	0.0001	0.0001	0	0.0001	0.0001	0.0001	0.0001	0.0003	8.22e-05	6.767e-05	0.0002	0.0001	0	0	0	0.0003	0	0	0	0.0003	0	0	.	.	.	0.112	0.37037	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.109	0.09490	-0.9138	0.46377	T	0.004	0.01330	T	6	0.059548438	0.07175	T	7.33E-4	0.00491	T	.	.	.	.	0.0551355673512	0.04727	0.007986773086650406	0.00763	.	.	.	.	.	.	.	.	-0.163286	0.26257	T	-0.472325	0.25267	T	0.0863245129585266	0.10775	T	0.558744	0.25103	T	0.053535566	0.10144	0.07831623	0.17529	0.053535566	0.10144	0.07831623	0.17528	-10.008	0.73960	D	.	.	0.225	0.52524	B	.;.;.;.;.	.;.;.;.;.	1.666070	0.21242	15.11	0.95049673264718626	0.26065	0.00310	0.01640	N	AEFI	0.037694	0.05221	N	-0.736930986744413	0.14990	0.7515638	-0.982190714914029	0.10186	0.5113941	1.13445642388804E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	0.827	-0.463	0.11557	0.698000	0.25249	0.809000	0.21733	0.319000	0.19345	0.039000	0.20931	0.000000	0.08366	0.004000	0.06068	0.6542:0.0:0.3458:0.0	2.804	0.05092	742	0.52873	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2396.98	61	chr1	146972783	.	A	G	2396.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.588e+00;DP=1144;ExcessHet=0.0000;FS=7.849;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=48.52;MQRankSum=3.92;QD=14.10;ReadPosRankSum=-7.930e-01;SOR=0.948	GT:AD:DP:GQ:PL	0/1:71,99:170:99:2411,0,1746	20	0	1	0
chr1	146986476	146986476	G	T	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon27:c.G3016T:p.V1006F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	.	.	.	.	.	.	1.000	N	-2.255	N	3.64	T	-0.982	T	0.001	T	0.224	-2.219	0.005	-1.53	-1.523	-3.058	2.359	0.022	0.00021742527482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.616e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.406	0.21612	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.229	0.25745	-0.9824	0.34445	T	0.001	0.00255	T	7	0.052220464	0.05222	T	3.74E-4	0.00054	T	.	.	.	.	0.0716867268079	0.06686	0.006287468746981562	0.00596	.	.	.	.	.	5.01E-4	0.00188	T	-0.224501	0.17384	T	-0.560257	0.16353	T	0.040703484225222	0.03818	T	0.682032	0.38135	T	0.047004726	0.07961	0.08019341	0.18118	0.047004726	0.07961	0.08019341	0.18118	-7.493	0.57561	T	.	.	0.181	0.39339	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.074235	0.03797	0.803	0.51561709674880785	0.04585	0.00012	0.00170	N	AEFI	0.017241	0.00439	N	-1.76072499879359	0.00649	0.02797974	-1.85118346338533	0.00609	0.02705143	5.37886516762803E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.963	-1.53	0.08156	-0.920000	0.04121	-14.841000	0.00384	-1.512000	0.01014	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.2577:0.2965:0.4458	2.359	0.04039	768	0.49510	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	156.99	36	chr1	146986476	.	G	T	156.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.661e+00;DP=593;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0252;MLEAC=1;MLEAF=0.024;MQ=27.33;MQRankSum=1.91;QD=4.76;ReadPosRankSum=-2.877e+00;SOR=0.813	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:22,0:22:63:.:.:0,63,805	20	0	1	0
chr1	146986482	146986482	T	G	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon27:c.T3022G:p.S1008A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	.	.	.	.	.	.	1.000	N	1.93	M	3.19	T	-0.944	T	0.009	T	0.15	-0.350	2.344	-1.93	-0.691	-1.590	1.378	0.001	0.000184292380657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.594e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.033	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.119	0.10911	-0.9444	0.41911	T	0.009	0.03054	T	7	0.05782208	0.06702	T	4.93E-4	0.00143	T	.	.	.	.	0.0551355673512	0.04727	0.004069409539079896	0.00381	.	.	.	.	.	0.011983	0.10611	T	-0.244858	0.14736	T	-0.589498	0.13709	T	0.0716761663107822	0.08884	T	0.416058	0.16021	T	0.035674196	0.04245	0.041807774	0.04836	0.035674196	0.04245	0.041807774	0.04836	-10.653	0.77721	D	.	.	0.137	0.39288	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.042037	0.04581	1.258	0.75278008687621789	0.11013	0.00071	0.00499	N	AEFI	0.023419	0.01303	N	-0.881901220152309	0.11273	0.5431575	-1.15555897514068	0.06668	0.3217483	2.60250277347139E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.963	-1.93	0.07180	-0.993000	0.03831	-15.654000	0.00347	0.186000	0.17826	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.3386:0.291:0.0:0.3704	1.378	0.02091	768	0.49510	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	189.98	36	chr1	146986482	.	T	G	189.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.202e+00;DP=620;ExcessHet=0.0000;FS=2.444;InbreedingCoeff=-0.0248;MLEAC=1;MLEAF=0.024;MQ=28.65;MQRankSum=2.07;QD=5.13;ReadPosRankSum=-1.511e+00;SOR=1.162	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:22,0:22:63:.:.:0,63,805	20	0	1	0
chr1	146986483	146986483	C	T	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon27:c.C3023T:p.S1008L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	.	.	1.000	N	2.075	M	3.02	T	-0.967	T	0.014	T	0.313	1.634	11.42	0.183	0.664	-0.051	3.066	0.029	0.000223470506938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.685e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.576e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.011	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.2	0.22098	-0.9602	0.39143	T	0.013	0.04843	T	7	0.080670536	0.13121	T	5.75E-4	0.00233	T	.	.	.	.	0.126345400529	0.12197	0.009749796002780978	0.00936	.	.	.	.	.	0.096667	0.39870	T	-0.207671	0.19710	T	-0.536082	0.18684	T	0.317191511392593	0.25708	T	0.838016	0.90093	T	0.044107545	0.06994	0.05235305	0.08607	0.044107545	0.06993	0.05235305	0.08606	-10.291	0.75636	D	.	.	0.231	0.49177	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.224109	0.06063	2.504	0.91984020469727146	0.21316	0.00083	0.00561	N	AEFI	0.027567	0.02277	N	-0.641063540496327	0.17721	0.9142649	-0.898040125238809	0.12141	0.622768	1.10250784506222E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.963	-0.236	0.12422	-0.243000	0.08933	-9.229000	0.00849	0.171000	0.17763	0.000000	0.06391	0.000000	0.08366	0.038000	0.14061	0.0:0.6352:0.0:0.3648	2.958	0.05525	768	0.49510	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	186.98	36	chr1	146986483	.	C	T	186.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.671e+00;DP=629;ExcessHet=0.0000;FS=2.509;InbreedingCoeff=-0.0248;MLEAC=1;MLEAF=0.024;MQ=28.56;MQRankSum=2.11;QD=4.92;ReadPosRankSum=-1.338e+00;SOR=1.426	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:22,0:22:63:.:.:0,63,805	20	0	1	0
chr1	146986491	146986491	G	C	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon27:c.G3031C:p.E1011Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	.	.	.	.	.	.	1.000	N	1.485	L	2.6	T	-0.968	T	0.014	T	0.187	1.028	9.198	0.147	-0.147	-0.215	3.736	0.003	0.000220004363759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.178e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	9.232e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.099	0.61642	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.109	0.09490	-0.9737	0.36409	T	0.015	0.05801	T	7	0.06326583	0.08217	T	4.88E-4	0.00143	T	.	.	.	.	0.0716867268079	0.06686	0.013759645817807066	0.01333	.	.	.	.	.	0.012582	0.11036	T	-0.251447	0.13921	T	-0.598962	0.12899	T	0.0236750441152923	0.01104	T	0.743726	0.43132	T	0.042465843	0.06444	0.047043722	0.06690	0.042465843	0.06443	0.047043722	0.06690	-9.676	0.71950	D	.	.	0.275	0.51121	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.032301	0.04511	1.212	0.79556264730452553	0.12795	0.00079	0.00540	N	AEFI	0.028218	0.02446	N	-0.967352578107312	0.09307	0.4399451	-1.20638510972618	0.05807	0.2777158	1.44838041058684E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.963	-0.393	0.11819	-0.108000	0.10827	-6.489000	0.01384	0.189000	0.17846	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.4392:0.0:0.5608:0.0	4.316	0.10435	768	0.49510	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	180.98	36	chr1	146986491	.	G	C	180.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.84;DP=660;ExcessHet=0.0000;FS=2.463;InbreedingCoeff=-0.0248;MLEAC=1;MLEAF=0.024;MQ=29.72;MQRankSum=1.54;QD=4.52;ReadPosRankSum=-1.187e+00;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:25,0:25:72:.:.:0,72,902	20	0	1	0
chr1	146986497	146986499	TAC	-	exonic	NBPF12	.	nonframeshift deletion	NBPF12:NM_001278141:exon27:c.3037_3039del:p.Y1013del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.18e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	174.94	36	chr1	146986496	.	GTAC	G	174.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.950;DP=682;ExcessHet=0.0000;FS=5.033;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=31.16;MQRankSum=1.11;QD=4.17;ReadPosRankSum=-9.040e-01;SOR=2.280	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:25,0:25:72:.:.:0,72,902	20	0	1	0
chr1	146986500	146986500	-	GTG	exonic	NBPF12	.	nonframeshift insertion	NBPF12:NM_001278141:exon27:c.3040_3041insGTG:p.L1014delinsRV,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.194e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	174.94	36	chr1	146986500	.	C	CGTG	174.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.24;DP=695;ExcessHet=0.0000;FS=5.033;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=31.53;MQRankSum=1.11;QD=4.17;ReadPosRankSum=-3.380e-01;SOR=2.280	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:25,0:25:72:.:.:0,72,902	20	0	1	0
chr1	146986512	146986512	C	G	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon27:c.C3052G:p.L1018V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	.	.	.	.	.	.	1.000	N	1.955	M	2.6	T	-0.981	T	0.019	T	0.126	0.823	8.314	-0.25	0.664	-0.632	3.818	0.037	0.000473058548335	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1189236476	4.786e-06	2.071e-05	6.94e-06	2.953e-06	8.208e-06	1.27e-06	3.5e-07	2.18e-06	6.1e-07	0	0	0	0	0	0	8.208e-06	0	0	6.749e-06	0.0002	1.316e-05	0	1.495e-05	0	0	.	.	0	0	0	0	0	0	0	1.495e-05	0	0	.	.	.	0.094	0.53072	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.112	0.09914	-0.9737	0.36409	T	0.016	0.06616	T	7	0.09056851	0.15789	T	4.73E-4	0.00124	T	.	.	.	.	0.0611884634855	0.05136	0.003116935940425183	0.00290	.	.	.	.	.	0.012684	0.11106	T	-0.253059	0.13726	T	-0.601278	0.12705	T	0.0631774192411562	0.07658	T	0.681032	0.37818	T	0.025238998	0.01440	0.055768188	0.09843	0.025238998	0.01440	0.055768188	0.09843	-7.258	0.55896	T	.	.	0.122	0.27998	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.496213	0.01879	0.154	0.94183795776046209	0.24406	0.00285	0.01534	N	AEFI	0.033008	0.03835	N	-0.937317887192214	0.09980	0.4747539	-1.20516352055568	0.05826	0.2787231	3.06065598520527E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.963	-1.93	0.07180	-2.021000	0.01528	-7.968000	0.01052	0.171000	0.17763	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.3135:0.4087:0.0:0.2778	1.744	0.02779	768	0.49510	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	362.98	36	chr1	146986512	.	C	G	362.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.920e-01;DP=705;ExcessHet=0.0000;FS=1.343;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=31.51;MQRankSum=1.18;QD=6.72;ReadPosRankSum=-2.180e-01;SOR=0.389	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:28,0:28:81:.:.:0,81,1215	20	0	1	0
chr1	146986518	146986518	G	A	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon27:c.G3058A:p.V1020M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	.	.	.	.	.	.	1.000	N	-1.245	N	2.74	T	-0.939	T	0.004	T	0.274	1.150	9.683	1.22	0.664	0.544	5.867	0.025	0.000702396095101	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1200281685	1.139e-05	5.421e-05	7.097e-06	1.503e-05	1.413e-05	4.74e-06	3.04e-06	5.14e-06	3.01e-06	0	0	0	0	0	0	1.413e-05	6.189e-05	0	3.362e-05	0.0003	3.933e-05	2.76e-05	5.963e-05	1.283e-05	8.14e-06	1.991e-05	1.137e-05	2.477e-05	0	0	0	0	0	0	5.963e-05	0	0	.	.	.	0.236	0.31326	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.13	0.12484	-0.9729	0.36583	T	0.015	0.05801	T	7	0.087346405	0.14936	T	7.02E-4	0.00435	T	.	.	.	.	0.110078149338	0.10416	0.01575329224809466	0.01531	.	.	.	.	.	0.015988	0.13301	T	-0.237456	0.15675	T	-0.578865	0.14646	T	0.171782339176045	0.18700	T	0.747625	0.45238	T	0.015093163	0.00122	0.046958547	0.06658	0.015093163	0.00122	0.046958547	0.06658	-9.038	0.67942	D	.	.	0.144	0.36355	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.429885	0.08001	4.720	0.88881077394294616	0.18331	0.01109	0.04059	N	AEFI	0.028851	0.02618	N	-0.637039824333678	0.17839	0.9214175	-0.85192841644502	0.13241	0.6858245	2.03277693168313E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.963	0.963	0.18769	0.301000	0.18929	-4.729000	0.02013	0.189000	0.17846	0.001000	0.13787	0.000000	0.08366	0.013000	0.09966	0.0:0.0:1.0:0.0	5.499	0.16108	768	0.49510	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	404.98	36	chr1	146986518	.	G	A	404.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.677e+00;DP=713;ExcessHet=0.0000;FS=2.765;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=31.40;MQRankSum=1.00;QD=7.36;ReadPosRankSum=-4.050e-01;SOR=0.355	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:31,0:31:90:.:.:0,90,1350	20	0	1	0
chr1	146986524	146986524	A	G	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon27:c.A3064G:p.R1022G,	.	.	.	.	.	.	.	.	.	0.0001	0.024	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	.	.	.	.	.	.	1.000	N	1.445	L	3.94	T	-0.946	T	0.004	T	0.177	-0.055	3.732	-1.93	-1.590	-0.588	1.659	0.039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224786212	1.824e-05	4.455e-05	1.812e-05	1.834e-05	0.0005	9.78e-06	7.15e-06	0.0003	0.0002	0.0005	0	0	0	0	0	5.818e-06	0	0	0.0001	0.0004	0.0001	0.0001	0.0004	7.724e-05	6.403e-05	0.0003	0.0002	0.0004	0	0	0	0	0	0	0	0	0	.	.	.	0.006	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.117	0.10626	-0.9463	0.41599	T	0.004	0.01330	T	7	0.06937155	0.09945	T	.	.	.	.	.	.	.	0.117506650769	0.11410	0.008225204777348125	0.00787	.	.	.	.	.	0.067602	0.33244	T	-0.225417	0.17261	T	-0.561572	0.16230	T	0.0275253617298482	0.01619	T	0.728227	0.38135	T	0.0839485	0.19409	0.100187585	0.23946	0.0839485	0.19409	0.100187585	0.23945	-9.247	0.69273	D	.	.	0.196	0.41828	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.469054	0.08386	5.140	0.74022377082879431	0.10541	0.00030	0.00276	N	AEFI	0.024193	0.01458	N	-0.958420855417982	0.09504	0.4501306	-1.28349769219101	0.04653	0.2199849	7.04702272736815E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.963	-1.93	0.07180	-0.432000	0.07026	-11.618000	0.00589	0.208000	0.17961	0.001000	0.13787	0.000000	0.08366	0.019000	0.11356	0.454:0.0:0.2552:0.2908	1.659	0.02619	768	0.49510	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	395.98	36	chr1	146986524	.	A	G	395.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.251e+00;DP=724;ExcessHet=0.0000;FS=1.218;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=31.51;MQRankSum=0.954;QD=6.83;ReadPosRankSum=0.756;SOR=0.471	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1196	20	0	1	0
chr1	146989704	146989704	G	A	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon31:c.G3529A:p.V1177I,	.	.	389	1129	4	0	0	4	0.00176835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	.	.	1.000	N	.	.	3.28	T	-0.931	T	0.004	T	0.091	-0.239	2.848	-1.38	-2.667	-1.741	.	0.004	0.000284494916674	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1270043945	7.862e-05	0.0025	7.825e-05	7.9e-05	0.0002	6.654e-05	6.192e-05	7.377e-05	6.782e-05	2.998e-05	9.009e-05	0	0	0	0.0002	8.802e-05	0.0001	5.841e-05	0.0001	0.0023	0.0001	0.0001	0.0008	8.205e-05	6.755e-05	0.0005	0.0004	0.0001	0	0.0008	0	0	0	0	1.48e-05	0.0005	0	.	.	.	0.861	0.03399	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.053	0.02462	-0.9116	0.46657	T	0.003	0.00800	T	5	0.030879498	0.01217	T	4.39E-4	0.00099	T	.	.	.	.	0.0762999501168	0.06990	0.003494523934374631	0.00326	.	.	.	.	.	.	.	.	-0.290573	0.09580	T	-0.655165	0.08596	T	0.0625777323322281	0.07570	T	0.688631	0.29780	T	0.0542734	0.10388	0.078761145	0.17669	0.0542734	0.10388	0.078761145	0.17669	-8.585	0.64990	D	.	.	0.087	0.11124	B	.;.	.;.	-0.762112	0.01183	0.057	0.37633601480905915	0.02491	0.00087	0.00582	N	AEFI	0.020780	0.00855	N	-1.28669577664722	0.03834	0.1720164	-1.52809802913857	0.02130	0.09752339	5.886563974192E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.564	-1.13	0.09274	-2.893000	0.00776	-10.943000	0.00650	0.061000	0.17545	0.000000	0.06391	0.000000	0.08366	0.075000	0.16954	.	.	.	783	0.47268	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1158.98	93	chr1	146989704	.	G	A	1158.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.66;DP=5468;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.49;MQRankSum=-8.870e-01;QD=1.63;ReadPosRankSum=0.012;SOR=0.639	GT:AD:DP:GQ:PL	0/0:664,0:664:99:0,120,1800	20	0	1	0
chr1	146994534	146994534	C	G	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon37:c.C4333G:p.L1445V,	.	.	439	995	80	8	0	96	0.0460211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	.	.	1.000	N	1.95	M	3.87	T	-0.964	T	0.008	T	0.097	0.149	4.800	0.429	0.465	0.816	.	0.037	.	.	0.00878594	0.0133	0.0008	0.0125	0	0.0008	0.0115	0.0275	0.0385	0.0105367	1629	154602	rs200424287	0.0097	0.0097	0.0089	0.0105	0.0367	0.0096	0.0095	0.0320	0.0301	0.0017	0.0071	0.0172	0	0.0012	0.0367	0.0087	0.0129	0.0303	0.0070	0.0070	0.0067	0.0073	0.0296	0.0066	0.0065	0.0256	0.0241	0.0012	0	0.0057	0.0208	0	0.0007	0.0136	0.0098	0.0130	0.0296	.	.	.	0.04	0.53072	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.051	0.25867	-0.9640	0.38409	T	0.008	0.02968	T	6	0.0031640828	0.00053	T	.	.	.	.	.	.	.	.	.	1.2685876947599533E-4	0.00011	.	.	.	.	.	0.022672	0.17437	T	-0.596757	0.00153	T	-0.603517	0.12517	T	0.00373065755183608	0.00040	T	0.717528	0.33152	T	0.070765465	0.15614	0.07999147	0.18057	0.070765465	0.15614	0.07999147	0.18056	-3.886	0.22092	T	.	.	0.242	0.47600	B	.;.;.;.;.;.	.;.;.;.;.;.	0.664702	0.10331	7.061	0.74286934923283787	0.10639	0.12687	0.17419	N	AEFCI	0.077979	0.15723	N	-0.49473663388212	0.22253	1.186899	-0.71056478873505	0.16698	0.884545	1.28053174850038E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	0.429	0.429	0.15721	0.830000	0.27115	-4.642000	0.02055	-0.678000	0.04252	0.008000	0.17931	0.000000	0.08366	0.001000	0.02609	.	.	.	803	0.44167	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3591.98	70	chr1	146994534	.	C	G	3591.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.836e+00;DP=1456;ExcessHet=0.0000;FS=27.051;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.48;MQRankSum=9.24;QD=22.17;ReadPosRankSum=1.88;SOR=0.057	GT:AD:DP:GQ:PL	0/0:65,0:65:99:0,120,1800	20	0	1	0
chr1	147267466	147267466	G	C	exonic	CHD1L	.	nonsynonymous SNV	CHD1L:NM_001256338:exon3:c.G324C:p.Q108H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.997	D	0.916	D	0.000	D	0.995	D	0.805	L	-0.93	T	0.342	D	0.643	D	0.549	3.644	18.53	3.77	0.737	3.104	8.868	0.594	0.0595948045717	.	.	4.129e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs782452148	1.643e-05	1.642e-05	8.174e-06	2.477e-05	0.0003	1.112e-05	9.34e-06	0.0001	0.0001	0	0	0	0	0	0.0003	0	4.972e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.48186	T	0.03	0.54159	D	0.997	0.70673	D	0.893	0.65201	P	0.000005	0.62929	D	0.065506	0.991796	0.42521	D	1.32	0.33002	L	-0.93	0.75215	T	-2.66	0.56945	D	0.607	0.64818	0.342	0.88219	D	0.643	0.87528	D	10	0.6526125	0.69690	D	0.059595	0.67717	D	0.594	0.83857	0.601	0.73226	0.787728643751	0.78576	0.3249497708403468	0.32407	0.261140476916	0.28668	0.539260268211	0.44340	T	0.078488	0.73112	T	-0.160285	0.26715	T	-0.171822	0.57277	T	0.531777799129486	0.33800	D	0.880812	0.63722	D	0.10990337	0.25981	0.17937788	0.40669	0.10990337	0.25980	0.17937788	0.40668	-6.638	0.52959	T	.	.	0.328	0.59454	B	.;.;.;.	.;.;.;.	2.880335	0.38118	20.7	0.99705775713002665	0.80936	0.97621	0.75959	D	AEFGBI	0.434882	0.49575	N	0.363541317452297	0.59459	4.125391	0.370956191774292	0.59778	4.158872	0.999383127783448	0.39415	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.64	3.77	0.42499	3.074000	0.49763	3.823000	0.39960	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1722:0.0:0.8278:0.0	8.868	0.34454	775	0.48401	.;SNF2-related, N-terminal domain;SNF2-related, N-terminal domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1190.98	91	chr1	147267466	.	G	C	1190.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.830e-01;DP=1100;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.68;ReadPosRankSum=-1.737e+00;SOR=0.678	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,112,1369	20	0	1	0
chr1	147611852	147611852	C	A	exonic	BCL9	.	nonsynonymous SNV	BCL9:NM_004326:exon4:c.C16A:p.P6T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.992	D	0.000	D	1.000	D	1.245	L	1.42	T	-0.981	T	0.119	T	0.63	4.965	29.0	5.57	2.640	5.520	19.541	0.163	0.0210515352103	.	.	3.298e-05	0	8.643e-05	0	0	4.5e-05	0	0	2.59e-05	4	154602	rs782589783	1.573e-05	1.573e-05	1.906e-05	1.238e-05	6.708e-05	1.048e-05	8.75e-06	1.779e-05	9.55e-06	0	6.708e-05	0	0	0	0	1.799e-05	0	0	3.946e-05	3.941e-05	3.856e-05	4.039e-05	6.549e-05	1.717e-05	1.13e-05	1.972e-05	1.124e-05	2.417e-05	0	6.549e-05	0	0	0	0	5.881e-05	0	0	0.0	0.91255	D	0.023	0.57104	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.265	0.31966	L	1.42	0.33189	T	-1.06	0.27669	N	0.479	0.51405	-0.9812	0.34724	T	0.119	0.41648	T	10	0.31399214	0.48845	T	0.021052	0.43757	T	0.163	0.42028	0.258	0.20002	0.301778842787	0.29777	0.6048112193609287	0.60412	0.409640644394	0.41775	0.711969971657	0.68878	T	0.072144	0.34381	T	-0.106636	0.35323	T	-0.210655	0.53633	T	0.448169261217117	0.30730	T	0.925507	0.72634	D	0.49240908	0.66646	0.4137326	0.65537	0.49240908	0.66647	0.4137326	0.65537	-4.221	0.27055	T	.	.	0.164	0.36275	B	.	.	3.524740	0.49421	22.8	0.99793269309721921	0.87839	0.95497	0.64956	D	AEFDBCI	0.605663	0.59630	D	0.698355427692815	0.79523	7.095913	0.715603962032103	0.83562	8.054728	1.0	0.98316	0.722319	0.85440	0	0.698795	0.70079	0	0.719019	0.79029	0	0.635551	0.53088	0	.	.	5.57	5.57	0.84021	5.654000	0.67646	5.906000	0.50954	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.541	0.95268	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1662.98	36	chr1	147611852	.	C	A	1662.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.132e+00;DP=817;ExcessHet=0.0000;FS=3.382;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.21;ReadPosRankSum=1.93;SOR=0.849	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1355	20	0	1	0
chr1	147624175	147624175	C	T	exonic	BCL9	.	nonsynonymous SNV	BCL9:NM_004326:exon10:c.C3497T:p.P1166L,	.	.	411	1109	2	0	0	2	0.000900901	.	.	2683346	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.137	B	0.121	B	0.004	N	1.000	D	0.895	L	0.24	T	-0.951	T	0.101	T	0.487	2.775	15.24	4.43	2.454	5.386	17.597	0.150	0.0141725798355	0.0002	.	0.0001	0	0.0003	0	0	0.0001	0.0012	7.765e-05	9.06e-05	14	154602	rs139128167	6.89e-05	6.84e-05	5.886e-05	7.907e-05	0.0033	5.754e-05	5.364e-05	0.0022	0.0018	0.0003	0.0001	0	0	0	0.0033	4.521e-05	0.0002	8.258e-05	9.847e-05	9.842e-05	8.993e-05	0.0001	0.0003	6.001e-05	4.875e-05	8.867e-05	5.28e-05	2.405e-05	0	0.0003	0	0	0	0	0.0001	0.0009	0	0.012	0.54683	D	0.016	0.60972	D	0.137	0.27402	B	0.121	0.32300	B	0.003557	0.34793	N	0.275088	1	0.81001	D	1.955	0.52871	M	0.24	0.59583	T	-2.66	0.56945	D	0.599	0.61764	-0.9511	0.40782	T	0.101	0.37468	T	10	0.2859348	0.46176	T	0.014173	0.34105	T	0.150	0.39571	.	.	0.204265027416	0.20035	0.5373702496575625	0.53662	0.0822271247088	0.09269	0.697402358055	0.66769	T	0.404801	0.76116	T	-0.171642	0.24985	T	-0.215028	0.53213	T	0.0746884688869209	0.09294	T	0.948305	0.80045	D	0.20528845	0.42665	0.15510249	0.36373	0.20528845	0.42665	0.15510249	0.36372	-6.44	0.49821	T	.	.	0.104	0.18828	B	.	.	4.172104	0.62744	24.5	0.99623347410051288	0.75533	0.99072	0.90815	D	AEFDBI	0.536312	0.55458	D	0.0616358069222407	0.44679	2.737611	0.210891310199491	0.50450	3.237014	0.999999999084414	0.74766	0.722319	0.85440	0	0.653731	0.59785	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	4.43	4.43	0.52967	5.467000	0.66468	5.987000	0.52266	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	17.597	0.87914	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1208.98	34	chr1	147624175	.	C	T	1208.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=804;ExcessHet=0.0000;FS=1.617;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=-2.210e-01;SOR=0.929	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1392	20	0	1	0
chr1	147908652	147908652	C	T	exonic	GJA8	.	nonsynonymous SNV	GJA8:NM_005267:exon2:c.C697T:p.R233W,	Cataract 1, multiple types, Autosomal dominant	.	0	1517	5	0	0	5	0.00164528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.936	D	0.000	D	1.000	D	0.975	L	-4.56	D	1.062	D	0.907	D	0.65	3.246	16.89	4.4	2.267	5.842	17.139	0.690	0.294019697902	0.0002	0.000199681	0.0001	0	0.0007	0	0	2.998e-05	0	0.0002	9.7e-05	15	154602	rs140512440	5.952e-05	5.951e-05	6.126e-05	5.775e-05	0.0005	4.883e-05	4.561e-05	0.0004	0.0003	0	0.0005	0	0	0	0.0003	3.867e-05	0.0001	0.0001	3.94e-05	3.937e-05	5.14e-05	2.686e-05	0.0002	1.714e-05	1.129e-05	4.88e-06	1.83e-06	0	0	6.538e-05	0	0	0	0	2.94e-05	0.0009	0.0002	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.936	0.67150	D	0.000007	0.62929	D	0.065730	0.999997	0.58761	D	2.045	0.56016	M	-4.56	0.97772	D	-2.26	0.50502	N	0.698	0.70263	1.062	0.98396	D	0.907	0.96932	D	10	0.7287819	0.74154	D	0.29402	0.90660	D	0.690	0.88726	.	.	0.92797645703	0.92724	0.860726395076712	0.86036	.	.	0.451628297567	0.32167	T	0.667243	0.90083	D	0.0264538	0.55249	T	0.162133	0.80936	D	0.339203149080276	0.26592	T	0.89951	0.64815	D	0.3365709	0.56005	0.37050173	0.62298	0.3365709	0.56005	0.37050173	0.62298	-5.668	0.43408	T	0.3295728582200184	0.42763	0.099	0.16626	B	.	.	4.530834	0.71121	25.6	0.99877832547744616	0.95491	0.98995	0.89700	D	AEFDBI	0.908584	0.86409	D	0.351339474185347	0.58810	4.055636	0.29695467454901	0.55361	3.699242	0.9999994761575	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.4	4.4	0.52402	4.962000	0.63395	2.677000	0.33989	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.800000	0.37734	0.0:1.0:0.0:0.0	17.139	0.86625	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2477.98	35	chr1	147908652	.	C	T	2477.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.76;DP=939;ExcessHet=0.0000;FS=4.353;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.92;ReadPosRankSum=-1.651e+00;SOR=1.038	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1399	20	0	1	0
chr1	148115995	148115995	C	G	exonic	NBPF11	.	nonsynonymous SNV	NBPF11:NM_001385468:exon13:c.G1383C:p.E461D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.841	P	0.839	P	.	.	1.000	N	2.76	M	2.95	T	-1.091	T	0.037	T	0.208	-0.673	1.060	0.118	0.191	0.004	.	0.036	0.000687859755564	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1292662588	3.622e-06	1.311e-05	4.349e-06	2.895e-06	0.0001	1.06e-06	7.7e-07	4.528e-05	2.705e-05	0.0001	0	0	0	0	0	0	1.741e-05	0	0.0010	0.0025	0.0008	0.0011	0.0016	0.0008	0.0008	0.0009	0.0008	0.0010	0	0.0007	0.0009	0.0016	0.0002	0.0037	0.0011	0.0005	0.0007	.	.	.	0.09	0.51421	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	3.415	0.91848	M	.	.	.	.	.	.	0.092	0.10626	-1.0912	0.05335	T	0.037	0.15986	T	8	0.18447807	0.33823	T	6.88E-4	0.00418	T	.	.	0.362	0.36711	0.74206184359	0.73974	0.01487929977484634	0.01444	.	.	.	.	.	0.115703	0.43448	T	-0.145147	0.29075	T	-0.44627	0.28110	T	0.456752359867096	0.31046	T	0.69513	0.30474	T	0.1386144	0.32050	0.13419934	0.32163	0.1386144	0.32050	0.13419934	0.32162	-7.595	0.58276	D	.	.	0.186	0.45421	B	.;.;.;.	.;.;.;.	1.189406	0.15807	12.12	0.17923103723035594	0.00542	0.00373	0.01896	N	AEFI	0.043286	0.06824	N	-0.439477027746094	0.24099	1.298819	-0.76956715955876	0.15242	0.8006484	1.11536234223363E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	0.118	0.118	0.13972	-0.727000	0.05034	-10.754000	0.00669	-0.732000	0.03721	0.009000	0.18154	0.000000	0.08366	0.022000	0.11911	.	.	.	.	.	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	920.98	35	chr1	148115995	.	C	G	920.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.984e+00;DP=777;ExcessHet=0.0000;FS=0.853;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=34.86;MQRankSum=-6.990e-01;QD=8.77;ReadPosRankSum=0.867;SOR=0.868	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	20	0	1	0
chr1	148120672	148120672	C	T	exonic	NBPF11	.	nonsynonymous SNV	NBPF11:NM_001385468:exon9:c.G817A:p.V273M	.	.	423	1092	6	1	0	8	0.00364964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.993	D	.	.	1.000	N	2.045	M	3.73	T	-1.043	T	0.019	T	0.184	-0.837	0.582	.	0.268	0.812	.	0.048	0.000604597787084	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1208357754	0.0023	0.0023	0.0020	0.0025	0.0309	0.0022	0.0022	0.0295	0.0289	0.0002	0.0005	0.0002	0.0309	0.0033	0.0027	0.0007	0.0047	0.0088	0.0028	0.0028	0.0025	0.0030	0.0400	0.0025	0.0024	0.0355	0.0338	0.0003	0	0.0016	0.0003	0.0400	0.0038	0	0.0009	0.0066	0.0120	.	.	.	0.058	0.46182	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.39	0.68882	M	.	.	.	.	.	.	0.15	0.15328	-1.0427	0.16503	T	0.019	0.07753	T	7	0.0050448477	0.00109	T	8.41E-4	0.00713	T	.	.	0.101	0.01536	0.104622674875	0.10061	0.018802681264477317	0.01834	.	.	.	.	.	0.115013	0.43327	T	-0.146153	0.28916	T	-0.447715	0.27950	T	0.406928715404172	0.29203	T	0.827217	0.49863	T	0.13172278	0.30693	0.1550105	0.36354	0.13172278	0.30693	0.1550105	0.36353	-6.267	0.48461	T	.	.	0.345	0.56952	A	.;.;.;.	.;.;.;.	2.344602	0.30048	18.32	0.50649757358518066	0.04421	0.00674	0.02901	N	AEFI	0.027830	0.02344	N	-0.384594456288528	0.26018	1.41675	-0.735739125009081	0.16074	0.8485769	1.13787496935436E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	.	.	.	0.861000	0.27540	1.189000	0.24752	0.417000	0.20760	0.008000	0.17931	0.039000	0.21534	0.002000	0.04165	.	.	.	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2859.98	139	chr1	148120672	.	C	T	2859.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.250;DP=1082;ExcessHet=0.0000;FS=1.149;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=51.55;MQRankSum=-2.142e+00;QD=15.05;ReadPosRankSum=1.87;SOR=0.586	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr1	148120681	148120681	C	T	exonic	NBPF11	.	nonsynonymous SNV	NBPF11:NM_001385468:exon9:c.G808A:p.V270I	.	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.778	P	0.236	B	.	.	1.000	N	1.59	L	3.99	T	-0.913	T	0.004	T	0.137	-0.449	1.918	.	0.268	-3.020	.	0.023	0.00169904562949	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1237737551	0.0004	0.0004	0.0003	0.0004	0.0021	0.0004	0.0003	0.0019	0.0018	0.0001	0.0002	0	0.0008	7.491e-05	0.0007	0.0003	0.0006	0.0021	0.0004	0.0004	0.0004	0.0004	0.0031	0.0003	0.0003	0.0019	0.0016	0.0002	0	0.0001	0	0.0031	0	0	0.0003	0.0005	0.0023	.	.	.	0.055	0.46862	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.355	0.33814	L	.	.	.	.	.	.	0.108	0.09349	-0.9128	0.46505	T	0.004	0.01400	T	7	0.024328679	0.00665	T	0.001699	0.02830	T	.	.	0.129	0.03412	0.0551355673512	0.04727	0.007768515961441434	0.00741	.	.	.	.	.	0.009983	0.09054	T	-0.259042	0.13013	T	-0.609873	0.11996	T	0.13418101831985	0.15763	T	0.542646	0.18460	T	0.06716865	0.14520	0.08114281	0.18415	0.06716865	0.14520	0.08114281	0.18414	-3.455	0.15807	T	.	.	0.100	0.19357	B	.;.;.;.	.;.;.;.	-0.132671	0.03450	0.637	0.6027177137814862	0.06423	0.00067	0.00479	N	AEFI	0.022668	0.01163	N	-0.925877009486483	0.10239	0.4883756	-1.15243550706744	0.06724	0.3246325	1.13787496935436E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	.	.	.	-2.145000	0.01382	-14.523000	0.00400	-0.801000	0.03157	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	997.98	138	chr1	148120681	.	C	T	997.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.54;DP=931;ExcessHet=0.0000;FS=0.669;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.56;MQRankSum=-9.190e+00;QD=7.23;ReadPosRankSum=2.56;SOR=0.777	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr1	148123871	148123871	C	A	exonic	NBPF11	.	nonsynonymous SNV	NBPF11:NM_001385468:exon6:c.G475T:p.V159F	.	.	422	1038	62	0	0	62	0.0289991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.009	B	0.004	B	.	.	1.000	N	2.14	M	3.91	T	-0.968	T	0.057	T	0.401	-0.942	0.357	.	0.107	-0.215	.	0.092	0.00142394010296	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207133286	0.0052	0.0054	0.0047	0.0058	0.0281	0.0051	0.0051	0.0240	0.0224	0.0008	0.0030	0.0281	0	0.0004	0.0281	0.0043	0.0072	0.0159	0.0043	0.0044	0.0041	0.0044	0.0175	0.0040	0.0039	0.0144	0.0133	0.0006	0	0.0046	0.0290	0.0004	0.0002	0.0476	0.0050	0.0063	0.0175	.	.	.	0.146	0.45744	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	2.71	0.79292	M	.	.	.	.	.	.	0.153	0.15749	-0.9683	0.37551	T	0.057	0.23866	T	7	0.004335612	0.00088	T	0.001424	0.02113	T	.	.	0.117	0.02508	0.199424873507	0.19547	0.03541266956653438	0.03488	.	.	.	.	.	0.098663	0.40270	T	-0.0594101	0.42998	T	-0.323115	0.42231	T	0.0688986951738973	0.08496	T	0.561144	0.20320	T	0.13022043	0.30391	0.19046506	0.42451	0.13022043	0.30390	0.19046506	0.42450	-9.878	0.73178	D	.	.	0.181	0.47708	B	.;.;.;.	.;.;.;.	1.778462	0.22614	15.69	0.48853896195317942	0.04111	0.00265	0.01446	N	AEFI	0.043442	0.06869	N	-0.876222276605691	0.11410	0.550476	-1.00334385492625	0.09711	0.4847502	1.0986060413411E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	-0.060000	0.11669	-20.000000	0.00162	0.167000	0.17740	0.001000	0.13787	0.000000	0.08366	0.018000	0.11154	.	.	.	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	1079.11	44	chr1	148123871	.	C	A	1079.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.48;DP=768;ExcessHet=0.1072;FS=2.897;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=35.18;MQRankSum=2.87;QD=11.99;ReadPosRankSum=0.546;SOR=1.028	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1402	19	0	2	0
chr1	148482828	148482828	A	G	exonic	PPIAL4G	.	nonsynonymous SNV	PPIAL4G:NM_001123068:exon1:c.T425C:p.M142T,	.	.	460	1058	4	0	0	4	0.00188679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.627	P	0.471	P	0.000	U	0.995	N	3.14	M	0.86	T	-0.967	T	0.112	T	0.631	1.355	10.45	0.523	0.493	6.277	5.396	0.241	.	.	.	0.0085	0.0008	0.0005	0.0002	0	9.674e-05	0.0047	0.0576	3.84e-05	1	26028	rs1434005006	0.0041	0.0042	0.0023	0.0058	0.0605	0.0040	0.0039	0.0591	0.0585	0.0008	0.0003	4.06e-05	0.0002	4.946e-05	0.0021	0.0002	0.0041	0.0605	0.0023	0.0027	0.0014	0.0033	0.0675	0.0021	0.0020	0.0613	0.0589	0.0006	0	0.0003	0	0.0002	0	0	0.0001	0.0005	0.0675	0.024	0.47745	D	0.041	0.50514	D	.	.	.	.	.	.	0.000000	0.84330	U	0.000000	0.992212	0.23917	N	.	.	.	0.86	0.46777	T	-4.05	0.74504	D	0.62	0.63544	-1.0402	0.17253	T	0.057	0.23942	T	7	0.023180366	0.00599	T	0.001176	0.01484	T	.	.	.	.	0.143184338766	0.13958	0.775643807566539	0.77514	.	.	0.696464717388	0.66634	T	0.038105	0.24721	T	-0.0465463	0.44969	T	-0.304637	0.44233	T	0.823889195919037	0.48063	D	0.340966	0.07383	T	0.3696158	0.58557	0.40903258	0.65204	0.3696158	0.58557	0.40903258	0.65204	-7.782	0.59574	D	.	.	0.156	0.34602	B	.	.	1.874707	0.23810	16.16	0.52689133183973169	0.04796	0.78012	0.38428	D	AEFI	0.330855	0.43077	N	-0.373197041573718	0.26428	1.442239	-0.564576143488025	0.20419	1.100055	1.0494678536686E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.109	0.109	0.13884	6.559000	0.73842	2.070000	0.30439	0.261000	0.18407	1.000000	0.71638	0.996000	0.32793	0.161000	0.20682	0.9996:0.0:4.0E-4:0.0	4.622	0.11842	.	.	Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	697.46	32	chr1	148482828	.	A	G	697.46	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.917e+00;DP=599;ExcessHet=0.1072;FS=2.175;InbreedingCoeff=-0.0584;MLEAC=2;MLEAF=0.048;MQ=28.92;MQRankSum=0.566;QD=10.11;ReadPosRankSum=1.14;SOR=1.014	GT:AD:DP:GQ:PL	0/0:23,0:23:63:0,63,920	19	0	2	0
chr1	148557506	148557506	T	C	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon35:c.A4484G:p.D1495G,	.	.	501	1018	2	1	0	4	0.00196078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219983187	0.0004	0.0007	0.0004	0.0004	0.0103	0.0004	0.0004	0.0093	0.0090	6.989e-05	0.0001	0	0.0103	0	0	5.239e-05	0.0003	0.0005	0.0004	0.0009	0.0003	0.0004	0.0099	0.0003	0.0002	0.0074	0.0066	0.0001	0	7.914e-05	0	0.0099	0	0	1.582e-05	0	0.0003	.	.	.	0.512	0.12668	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.11197	.	.	.	.	.	.	.	0.08087933	0.13179	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557644	0.23352	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10545	B	.;.	.;.	0.134461	0.05294	1.789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.738000	0.25826	-4.838000	0.01963	0.319000	0.19345	0.028000	0.20300	0.000000	0.08366	0.006000	0.07323	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05882	2214.28	39	chr1	148557506	.	T	C	2214.28	.	AC=2;AF=0.059;AN=34;DP=616;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.059;MQ=39.32;QD=29.92;SOR=1.547	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	16	1	0	4
chr1	148559058	148559058	T	G	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon33:c.A4237C:p.K1413Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1187500467	0.0002	0.0014	0.0002	0.0002	0.0006	0.0002	0.0002	0.0004	0.0003	0.0006	0.0005	0	0	2.73e-05	0.0005	0.0002	0.0002	0.0005	7.834e-05	0.0013	0.0001	4.062e-05	0.0001	3.862e-05	2.827e-05	4.596e-05	3.091e-05	0	0	9.208e-05	0	0	0	0	0.0001	0.0007	0	.	.	.	0.855	0.04825	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	0.13911	.	.	.	.	.	.	.	0.07555959	0.11693	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.489851	0.15589	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.09143	B	.;.	.;.	-0.133480	0.03447	0.635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.187000	0.03176	-2.299000	0.03932	-1.776000	0.00658	0.011000	0.18532	0.000000	0.08366	0.001000	0.02609	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.06667	46.19	2	chr1	148559058	.	T	G	46.19	.	AC=2;AF=0.067;AN=30;DP=507;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6588;MLEAC=1;MLEAF=0.033;MQ=29.06;QD=23.09;SOR=2.303	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,105,1575	14	1	0	6
chr1	148953687	148953687	A	C	exonic	PDE4DIP	.	nonsynonymous SNV	PDE4DIP:NM_001002811:exon1:c.A907C:p.I303L	.	.	439	1059	23	0	1	24	0.0107426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	T	0.0	B	0.001	B	.	.	1.000	D	0.035	N	3.12	T	-0.932	T	0.003	T	0.027	-0.760	0.788	0.682	0.086	0.420	8.105	0.081	0.0017778262587	.	.	8.237e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs146001390	0.0078	0.0080	0.0080	0.0077	0.0086	0.0077	0.0077	0.0084	0.0083	0.0012	0.0029	0.0231	2.587e-05	0.0095	0.0085	0.0086	0.0085	0.0022	0.0065	0.0066	0.0068	0.0063	0.0093	0.0062	0.0061	0.0087	0.0084	0.0016	0.0208	0.0038	0.0262	0	0.0106	0.0102	0.0093	0.0071	0.0004	0.53	0.07025	T	0.334	0.18340	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.75	0.11730	T	-0.53	0.16393	N	0.14	0.15609	.	.	.	.	.	.	.	0.008189917	0.00186	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.70293	0.31835	T	.	.	.	.	.	.	.	.	-2.368	0.04940	T	.	.	0.110	0.21877	B	.;.	.;.	1.611311	0.20591	14.82	.	.	.	.	.	.	0.093440	0.18906	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.856000	0.27473	1.536000	0.27193	-0.222000	0.07959	0.482000	0.26816	0.763000	0.26639	0.974000	0.55675	.	.	.	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1669.11	37	chr1	148953687	.	A	C	1669.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.19;DP=807;ExcessHet=0.1072;FS=4.240;InbreedingCoeff=-0.0502;MLEAC=2;MLEAF=0.048;MQ=31.52;MQRankSum=1.97;QD=14.77;ReadPosRankSum=-1.990e-01;SOR=0.343	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	19	0	2	0
chr1	149021111	149021111	A	G	exonic	PDE4DIP	.	nonsynonymous SNV	PDE4DIP:NM_001350520:exon33:c.A6529G:p.I2177V	.	.	591	902	27	2	0	31	0.0168937	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.022	B	0.007	B	.	.	1.000	D	1.39	L	4.99	T	-1.000	T	0.084	T	0.295	2.376	13.90	3.51	1.948	2.165	4.269	0.050	0.00557351307489	.	.	.	.	.	.	.	.	.	.	.	.	.	rs145618115	0.0028	0.0028	0.0026	0.0029	0.0222	0.0027	0.0026	0.0177	0.0160	0.0010	0.0036	0.0041	0	0.0003	0.0222	0.0032	0.0039	0.0011	0.0028	0.0028	0.0028	0.0028	0.0051	0.0025	0.0025	0.0042	0.0038	0.0007	0	0.0051	0.0032	0	0.0004	0.0204	0.0040	0.0057	0.0013	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.56	0.00874	T	0.15	0.05310	N	0.299	0.35514	.	.	.	.	.	.	.	0.035420418	0.01790	T	.	.	.	.	.	.	.	.	.	0.22600125266837892	0.22515	.	.	.	.	.	0.00372	0.15341	T	.	.	.	.	.	.	.	.	.	0.780422	0.42944	T	.	.	.	.	.	.	.	.	-2.012	0.03226	T	.	.	0.196	0.41947	B	.;.;.;.;.	.;.;.;.;.	2.475599	0.31918	18.88	.	.	.	.	.	.	0.092468	0.18719	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.389000	0.44060	3.828000	0.39982	0.558000	0.28311	1.000000	0.71638	1.000000	0.68203	0.601000	0.31412	.	.	.	895	0.25842	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	655.0	16	chr1	149021111	.	A	G	655.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.854;DP=497;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.0310;MLEAC=1;MLEAF=0.024;MQ=28.90;MQRankSum=2.12;QD=26.20;ReadPosRankSum=-1.754e+00;SOR=0.749	GT:AD:DP:GQ:PL	0/0:31,0:31:84:0,84,1260	20	0	1	0
chr1	149075685	149075685	C	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon7:c.G958T:p.G320C	.	.	409	361	749	3	0	755	0.511171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	.	.	.	.	.	.	1.000	N	.	.	4.24	T	-0.912	T	0.002	T	0.328	-0.960	0.324	0.43	-1.589	-0.069	.	0.049	.	.	.	5.909e-05	0	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs1385733241	9.61e-06	5.749e-05	1.23e-05	6.897e-06	2.519e-05	5.58e-06	4.36e-06	4.56e-06	3.33e-06	0	0	3.836e-05	2.519e-05	0	0	9.021e-06	3.323e-05	0	1.317e-05	3.942e-05	2.575e-05	0	2.946e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.946e-05	0	0	.	.	.	0.365	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.21580	.	.	.	.	.	.	.	0.12383446	0.23512	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.811819	0.46320	T	.	.	.	.	.	.	.	.	-4.7	0.44930	T	.	.	0.071	0.39220	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.560151	0.09286	6.069	.	.	.	.	.	.	0.017031	0.00420	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.056000	0.11744	0.032000	0.13746	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	889	0.27310	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4762	30341.43	581	chr1	149075685	.	C	A	30341.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.56;DP=9689;ExcessHet=43.6797;FS=6.799;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=47.24;MQRankSum=-6.707e+00;QD=3.24;ReadPosRankSum=-1.735e+00;SOR=1.328	GT:AD:DP:GQ:PL	0/1:459,110:569:99:1803,0,12272	1	0	20	0
chr1	149075799	149075799	C	T	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon7:c.G844A:p.E282K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	1.491	10.94	-1.18	-0.375	-0.108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1226010000	0.0001	0.0001	0.0001	0.0001	0.0034	9.289e-05	8.785e-05	0.0029	0.0028	3.025e-05	0	0	0.0034	1.896e-05	0	5.527e-06	0	0.0001	4.6e-05	5.249e-05	3.857e-05	5.377e-05	0.0013	2.109e-05	1.527e-05	0.0006	0.0004	0	0	0	0	0.0013	0	0	0	0	0	.	.	.	0.176	0.50226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	0.07811	-0.9015	0.47835	T	0.007	0.02360	T	5	0.094111264	0.16707	T	0.00278	0.05781	T	.	.	0.341	0.33302	0.303781844768	0.29979	.	.	.	.	0.555922627449	0.46691	T	.	.	.	-0.138949	0.30059	T	-0.437367	0.29104	T	0.425269961357117	0.29885	T	0.811819	0.54093	T	0.062146336	0.12947	0.13218276	0.31726	0.062146336	0.12947	0.13218276	0.31725	-6.112	0.57975	T	.	.	0.134	0.40328	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-0.341878	0.02439	0.278	0.94196499371567244	0.24428	0.00119	0.00751	N	AEFI	0.040634	0.06071	N	-0.838079253060004	0.12346	0.6011811	-1.03316948180494	0.09061	0.4487454	1.09537333666636E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	.	.	.	-3.896000	0.00383	-2.634000	0.03525	0.232000	0.18153	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	889	0.27310	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	785.98	259	chr1	149075799	.	C	T	785.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=6.94;DP=4095;ExcessHet=0.0000;FS=2.104;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=40.78;MQRankSum=1.13;QD=2.65;ReadPosRankSum=1.23;SOR=0.866	GT:AD:DP:GQ:PL	0/0:206,0:206:99:0,120,1800	20	0	1	0
chr1	149079127	149079127	C	G	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon4:c.G373C:p.E125Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.007	B	0.002	B	.	.	1.000	N	.	.	4.39	T	-0.954	T	0.001	T	0.321	-3.071	0.001	-1.04	-0.770	-0.311	.	0.025	.	.	.	0.0644	0.0770	0.0487	0.0410	0.0303	0.0633	0.0866	0.0969	0.0106808	278	26028	.	8.799e-07	7.127e-05	1.795e-06	0	1.217e-06	0	0	.	.	0	0	0	0	0	0	1.217e-06	0	0	6.917e-05	0.0006	9.41e-05	4.275e-05	0.0002	3.691e-05	2.843e-05	6.773e-05	4.555e-05	0.0002	0	0	0	0.0002	9.903e-05	0	1.515e-05	0	0.0002	.	.	.	0.199	0.27679	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.05414	-0.9539	0.40292	T	0.001	0.00318	T	6	0.0030939877	0.00051	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.547456741333	0.45498	T	.	.	.	-0.147531	0.28698	T	-0.449695	0.27730	T	0.00119219371206561	0.00012	T	0.891311	0.66975	D	0.099779524	0.23552	0.08344974	0.19124	0.099779524	0.23552	0.08344974	0.19124	-9.559	0.71226	D	.	.	0.079	0.36869	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.030248	0.04496	1.203	0.057885152920866254	0.00015	0.00003	0.00079	N	AEFI	0.013383	0.00176	N	-1.68197913367445	0.00907	0.03928493	-1.79824352941992	0.00765	0.03410724	1.92802502388975E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	0.521	-1.04	0.09555	-0.551000	0.06117	-1.586000	0.05115	-1.150000	0.01427	0.000000	0.06391	0.000000	0.08366	0.056000	0.15673	.	.	.	889	0.27310	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	35.49	40	chr1	149079127	.	C	G	35.49	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-1.737e+00;DP=586;ExcessHet=0.3300;FS=43.974;InbreedingCoeff=-0.0799;MLEAC=2;MLEAF=0.050;MQ=34.99;MQRankSum=-2.131e+00;QD=0.51;ReadPosRankSum=-1.054e+00;SOR=5.133	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	17	0	3	1
chr1	149080125	149080125	A	C	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon3:c.T206G:p.F69C	.	.	428	1033	59	0	2	61	0.0277647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.561	P	0.03	B	.	.	0.994	N	.	.	4.04	T	-0.891	T	0.003	T	0.617	-0.096	3.531	0.521	-0.507	0.085	.	0.180	.	.	.	0.0033	0.0145	0.0009	0	0.0012	0.0027	0.0023	0.0042	.	.	.	rs1390912950	0.0002	0.0010	0.0002	0.0002	0.0007	0.0002	0.0002	0.0004	0.0004	0.0007	2.254e-05	0	0	0	0	0.0002	0.0001	1.217e-05	1.317e-05	4.599e-05	1.287e-05	1.348e-05	2.424e-05	2.19e-06	8.2e-07	.	.	2.424e-05	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	0.06	0.46406	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.25377	-0.8915	0.48802	T	0.003	0.00929	T	6	0.006337911	0.00143	T	.	.	.	.	.	.	.	0.33085137897	0.32697	.	.	.	.	0.562167644501	0.47573	T	.	.	.	-0.00962353	0.50319	T	-0.2516	0.49658	T	0.00364377396181226	0.00039	T	0.776122	0.54441	T	0.07975494	0.18237	0.11654482	0.28135	0.07975494	0.18236	0.11654482	0.28134	-8.196	0.62519	D	.	.	0.208	0.66592	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.307220	0.17096	12.96	0.63452259433326419	0.07228	0.00133	0.00820	N	AEBI	0.030160	0.02983	N	-1.27017796842118	0.04039	0.1815783	-1.42974027466438	0.02958	0.1371134	1.34789044892587E-6	0.01202	0.660377	0.49826	0	0.694456	0.67091	0	0.602189	0.34648	0	0.508809	0.08732	0	.	.	0.521	0.521	0.16244	0.257000	0.18137	2.458000	0.32842	-0.610000	0.04588	0.000000	0.06391	0.053000	0.21875	0.001000	0.02609	.	.	.	889	0.27310	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1244.68	287	chr1	149080125	.	A	C	1244.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.343e+00;DP=3650;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=36.29;MQRankSum=-1.785e+00;QD=1.65;ReadPosRankSum=-5.750e-01;SOR=0.704	GT:AD:DP:GQ:PL	0/0:234,0:234:99:0,120,1800	18	0	3	0
chr1	149455377	149455377	G	A	exonic	NOTCH2NLC	.	nonsynonymous SNV	NOTCH2NLC:NM_001364012:exon3:c.G98A:p.R33H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.098e-05	4.557e-05	6.283e-05	4.033e-05	0.0003	3.446e-05	2.895e-05	0.0002	0.0001	0	4.209e-05	0	0.0003	0	0	3.259e-05	7.452e-05	4.156e-05	2.839e-05	2.693e-05	0	6.111e-05	0.0005	7.54e-06	4.09e-06	9.168e-05	3.751e-05	0	0	0	0	0.0005	0.0001	0	0	0	0	.	.	.	0.132	0.34477	T	.	.	.	.	.	.	.	.	.	.	0.999058	0.21670	N	.	.	.	0.42	0.56937	T	.	.	.	0.278	0.31478	-1.0899	0.05549	T	0.076	0.30492	T	9	0.16271439	0.30487	T	0.004155	0.09963	T	.	.	.	.	0.345859378078	0.34197	.	.	.	.	0.487647145987	0.37113	T	.	.	.	-0.0440443	0.45346	T	-0.301043	0.44614	T	0.811187386512756	0.47132	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.22537	B	.	.	3.052715	0.40963	21.3	0.99914311623250862	0.98309	0.33520	0.24848	N	AEFBCI	.	.	.	-0.215019961954093	0.32517	1.834685	-0.190805715161787	0.31874	1.807931	0.29557067381037	0.19134	0.712529	0.81865	0	0.639134	0.57113	0	0.635938	0.45252	0	0.683672	0.66515	0	.	.	2.75	2.75	0.31439	1.145000	0.31189	3.725000	0.39599	0.318000	0.19305	0.001000	0.13787	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.7294:0.2706	7.033	0.24154	830	0.39242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	120.41	12	chr1	149455377	.	G	A	120.41	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.47;DP=201;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0301;MLEAC=1;MLEAF=0.025;MQ=24.24;MQRankSum=-2.960e-01;QD=9.26;ReadPosRankSum=0.838;SOR=1.179	GT:AD:DP:GQ:PL	0/0:13,0:13:39:0,39,452	19	0	1	1
chr1	149476000	149476000	C	A	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon1:c.C68A:p.T23K,	.	.	439	1070	13	0	0	13	0.00603809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.914e-06	0.0001	6.637e-06	3.234e-06	3.197e-05	1.77e-06	1.16e-06	1.05e-06	7.1e-07	3.197e-05	2.263e-05	0	0	0	0	4.47e-06	0	0	0.0002	0.0020	0.0001	0.0002	0.0005	0.0001	0.0001	0.0001	9.567e-05	4.942e-05	0	6.976e-05	0.0012	0.0004	0.0001	0	0.0002	0	0.0005	.	.	.	0.238	0.24549	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.136	0.15046	-0.9732	0.36518	T	0.000	0.00152	T	7	0.041458398	0.02803	T	2.1E-4	0.00005	T	.	.	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.001534	0.00977	T	-0.258436	0.13083	T	-0.609002	0.12066	T	0.0377450288243948	0.03287	T	0.49745	0.15470	T	0.038046084	0.04993	0.06475348	0.13026	0.038046084	0.04992	0.06475348	0.13026	-1.143	0.01172	T	.	.	0.050	0.00130	B	.;.;.	.;.;.	-0.436196	0.02080	0.193	0.30157414338663457	0.01635	0.00027	0.00265	N	AEFDBHCIJ	.	.	.	-1.71877720489443	0.00777	0.03357492	-1.76073307947	0.00893	0.03994536	0.999999413893899	0.74766	0.675202	0.55065	0	0.008208	0.00037	3	0.691665	0.62940	0	0.756233	0.99697	0	.	.	1.21	-0.139	0.12803	-0.024000	0.12382	-0.148000	0.11448	-0.613000	0.04580	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.416:0.2945:0.0:0.2895	2.171	0.03615	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	676.01	33	chr1	149476000	.	C	A	676.01	.	AC=6;AF=0.143;AN=42;BaseQRankSum=5.27;DP=1964;ExcessHet=1.7912;FS=25.359;InbreedingCoeff=-0.1663;MLEAC=6;MLEAF=0.143;MQ=33.27;MQRankSum=-4.079e+00;QD=0.61;ReadPosRankSum=-3.831e+00;SOR=4.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1310	15	0	6	0
chr1	149476006	149476006	G	A	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon1:c.G74A:p.R25H,	.	.	440	1066	16	0	0	16	0.00744879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450463980	0.0016	0.0064	0.0017	0.0015	0.0019	0.0016	0.0016	0.0018	0.0018	0.0005	0.0005	0.0016	0.0009	0.0014	0.0015	0.0019	0.0015	0.0006	0.0005	0.0024	0.0004	0.0005	0.0004	0.0004	0.0003	0.0003	0.0003	0.0004	0	0.0003	0.0009	0.0002	0.0014	0	0.0004	0	0.0002	.	.	.	0.012	0.63918	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.126	0.11912	-0.9534	0.40380	T	0.005	0.01578	T	9	0.034075946	0.01603	T	5.6E-4	0.00221	T	.	.	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.015807	0.13185	T	-0.346532	0.04948	T	-0.735546	0.04081	T	0.0515061975916717	0.05762	T	0.772023	0.40277	T	0.024656914	0.01319	0.043804567	0.05533	0.024656914	0.01319	0.043804567	0.05532	-6.957	0.53720	T	.	.	0.096	0.15160	B	.;.;.	.;.;.	0.628899	0.09975	6.729	0.91245755014531849	0.20504	0.00546	0.02508	N	AEFDBHCIJ	.	.	.	-1.10416153052003	0.06569	0.3027576	-1.28977332957077	0.04568	0.2157507	0.999999577828503	0.74766	0.675202	0.55065	0	0.67197	0.64623	0	0.691665	0.62940	0	0.756233	0.99697	0	.	.	1.06	-1.67	0.07798	-1.475000	0.02441	-15.955000	0.00333	-0.714000	0.03913	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.413:0.0:0.587:0.0	4.485	0.11196	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	1239.33	33	chr1	149476006	.	G	A	1239.33	.	AC=6;AF=0.143;AN=42;BaseQRankSum=4.74;DP=2230;ExcessHet=1.7912;FS=23.772;InbreedingCoeff=-0.1703;MLEAC=6;MLEAF=0.143;MQ=33.76;MQRankSum=-3.934e+00;QD=1.06;ReadPosRankSum=-4.403e+00;SOR=3.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:165,0:165:93:.:.:0,93,3933	15	0	6	0
chr1	149488143	149488143	G	A	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon9:c.G1171A:p.V391I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.0	B	0.001	B	.	.	1.000	N	1.245	L	3.28	T	-0.895	T	0.004	T	0.329	-0.998	0.263	-0.716	-1.078	-2.876	2.155	0.027	.	.	.	0.3462	0	0.5	0.5	.	0.35	.	.	.	.	.	rs1393468817	0.0010	0.0039	0.0010	0.0011	0.0014	0.0010	0.0009	0.0010	0.0010	0.0008	0.0010	0.0002	0.0014	0.0007	0.0009	0.0011	0.0010	0.0009	0.0020	0.0066	0.0021	0.0019	0.0037	0.0018	0.0017	0.0022	0.0019	0.0012	0.0065	0.0016	0.0016	0.0036	0.0016	0.0077	0.0024	0.0023	0.0037	.	.	.	0.05	0.48080	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.019	0.01421	-0.8950	0.48483	T	0.004	0.01226	T	9	0.0032426417	0.00055	T	.	.	.	.	.	0.479	0.55823	.	.	.	.	.	.	0.560923337936	0.47399	T	0.014359	0.12236	T	-0.182804	0.23320	T	-0.500362	0.22311	T	0.00364633540085454	0.00039	T	0.612539	0.26084	T	0.019038748	0.00428	0.04321957	0.05328	0.019038748	0.00428	0.04321957	0.05328	3.172	0.00018	T	.	.	0.103	0.18580	B	.;.	.;.	-0.373209	0.02314	0.246	0.25447681740136968	0.01173	0.00052	0.00397	N	AEFI	0.015628	0.00308	N	-1.77891344047157	0.00598	0.02580192	-1.89437954985071	0.00502	0.02225381	4.1572975472456E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	0.698	-0.716	0.10647	-0.704000	0.05160	-15.477000	0.00355	-1.418000	0.01127	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2694:0.3287:0.4019	2.155	0.03578	.	.	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.02381	31.02	20	chr1	149488143	.	G	A	31.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.508;DP=364;ExcessHet=0.0000;FS=3.522;InbreedingCoeff=-0.0274;MLEAC=1;MLEAF=0.024;MQ=35.98;MQRankSum=-4.310e-01;QD=3.45;ReadPosRankSum=0.282;SOR=2.266	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:26,0:26:72:.:.:0,72,884	20	0	1	0
chr1	149488149	149488149	G	C	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon9:c.G1177C:p.E393Q,	.	.	530	962	28	2	0	32	0.0163599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.997	D	0.992	D	.	.	1.000	N	2.38	M	2.94	T	-1.089	T	0.035	T	0.416	1.177	9.789	0.698	0.688	1.418	4.803	0.140	0.00060867098707	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1474159899	0.0034	0.0026	0.0020	0.0046	0.0225	0.0033	0.0032	0.0215	0.0211	0.0002	0.0014	0.0040	0	0.0002	0.0141	0.0010	0.0026	0.0225	0.0013	0.0014	0.0012	0.0015	0.0187	0.0012	0.0011	0.0152	0.0140	0.0002	0	0.0011	0.0054	0	0	0.0070	0.0010	0.0021	0.0187	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.123	0.14622	-1.0889	0.05718	T	0.035	0.15074	T	9	0.0548667	0.05907	T	6.09E-4	0.00289	T	.	.	0.821	0.93395	0.0666544352282	0.05500	.	.	.	.	0.57171189785	0.48920	T	0.014894	0.12595	T	-0.0565468	0.43446	T	-0.319002	0.42685	T	0.621665894985199	0.37274	D	0.722728	0.39577	T	0.046422713	0.07767	0.05308705	0.08876	0.046422713	0.07767	0.05308705	0.08875	-9.616	0.71579	D	.	.	0.245	0.47923	B	.;.	.;.	0.888687	0.12623	9.147	0.98128739072125104	0.38498	0.01707	0.05422	N	AEFI	0.030943	0.03210	N	-0.304474474754588	0.28978	1.602928	-0.640070078323218	0.18468	0.9866734	1.56385238301757E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	0.698	0.698	0.17247	0.194000	0.16941	-0.724000	0.07692	0.184000	0.17816	0.006000	0.17386	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	4.803	0.12670	.	.	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	687.83	19	chr1	149488149	.	G	C	687.83	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.47;DP=363;ExcessHet=0.3300;FS=3.933;InbreedingCoeff=-0.0803;MLEAC=3;MLEAF=0.071;MQ=36.70;MQRankSum=1.35;QD=13.49;ReadPosRankSum=-8.890e-01;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:27,0:27:78:.:.:0,78,1170	18	0	3	0
chr1	149517471	149517471	A	T	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon46:c.A5621T:p.Q1874L,	.	.	816	705	1	0	0	1	0.000708717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1185344434	0.0011	0.0010	0.0013	0.0009	0.0091	0.0010	0.0010	0.0076	0.0071	0	0	0.0011	0.0091	0.0054	0	0.0002	0.0019	0.0009	0.0004	0.0010	0.0003	0.0005	0.0020	0.0002	0.0001	3.174e-05	1.31e-05	0	0	0	0.0015	0.0020	0.0034	0	0.0002	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.098	0.07949	-0.9281	0.44415	T	0.006	0.02168	T	4	0.024324328	0.00665	T	9.58E-4	0.00980	T	.	.	.	.	0.0806252709748	0.07271	.	.	.	.	.	.	.	0.010577	0.09538	T	-0.20922	0.19490	T	-0.538307	0.18463	T	0.0881984476856418	0.11002	T	0.853215	0.53849	D	0.09412004	0.22122	0.25445613	0.51111	0.09412004	0.22122	0.25445613	0.51110	-10.94	0.79328	D	.	.	.	.	.	.	.	1.737957	0.22118	15.49	0.64021622242399012	0.07380	0.00373	0.01896	N	AEFI	.	.	.	-0.976898481875597	0.09099	0.4292426	-1.22424766267977	0.05523	0.2633597	1.45338730776636E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.811000	0.26855	-15.477000	0.00355	.	.	0.036000	0.20778	0.000000	0.08366	.	.	.	.	.	804	0.43891	Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	248.73	33	chr1	149517471	.	A	T	248.73	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=408;ExcessHet=0.0000;FS=5.301;InbreedingCoeff=-0.0289;MLEAC=1;MLEAF=0.026;MQ=37.57;MQRankSum=-4.386e+00;QD=6.38;ReadPosRankSum=1.80;SOR=1.899	GT:AD:DP:GQ:PL	0/0:31,0:31:60:0,60,900	18	0	1	2
chr1	149910644	149910644	C	T	exonic	SV2A	.	nonsynonymous SNV	SV2A:NM_001328674:exon5:c.G1015A:p.V339I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.971	D	0.612	P	0.000	D	1.000	D	1.03	L	0.4	T	-1.083	T	0.101	T	0.602	4.829	27.4	5.09	2.638	7.651	16.025	0.151	0.00800191068695	.	0.000199681	9.03e-06	0	0	0	0	0	0	6.559e-05	1.29e-05	2	154602	rs587611211	9.579e-06	1.026e-05	8.169e-06	1.1e-05	7.56e-05	5.56e-06	4.35e-06	2.004e-05	1.055e-05	2.987e-05	0	0	7.56e-05	0	0	8.095e-06	0	1.16e-05	6.566e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.056	0.38185	T	0.087	0.40747	T	0.971	0.57185	D	0.612	0.51145	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.005	0.25186	L	0.4	0.57261	T	-0.36	0.13035	N	0.361	0.40264	-1.0826	0.06852	T	0.101	0.37493	T	10	0.2986086	0.47416	T	0.008002	0.21213	T	0.151	0.39764	0.582	0.70861	0.229543500084	0.22568	0.5297031435939089	0.52894	0.600742330255	0.55147	0.685168147087	0.65012	T	0.251589	0.62186	T	-0.11187	0.34459	T	-0.229342	0.51836	T	0.612486362457275	0.36900	D	0.949755	0.80719	D	0.11406418	0.26931	0.11931769	0.28801	0.11406418	0.26931	0.11931769	0.28800	-7.172	0.57322	T	.	.	0.160	0.38409	B	.;.	.;.	5.073460	0.84627	28.4	0.99879128594116051	0.95572	0.94450	0.61205	D	AEFBCI	0.902372	0.85019	D	0.497285924414361	0.66931	5.01449	0.560477541246297	0.72129	5.761474	0.999999999998644	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.579976	0.35079	0	.	.	5.09	5.09	0.68647	6.163000	0.71702	5.840000	0.50240	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:1.0:0.0:0.0	16.025	0.80337	190	0.92594	Major facilitator superfamily domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2123.98	38	chr1	149910644	.	C	T	2123.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=875;ExcessHet=0.0000;FS=0.566;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=2.21;SOR=0.786	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1191	20	0	1	0
chr1	149944086	149944086	G	T	exonic	OTUD7B	.	nonsynonymous SNV	OTUD7B:NM_020205:exon12:c.C2303A:p.P768H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.493	N	1.000	N	0.69	N	1.5	T	-0.952	T	0.013	T	0.085	-0.343	2.377	-1.27	-0.307	1.272	3.991	0.039	0.00668796475497	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.723e-06	1.375e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.36365	T	0.0	0.02946	B	0.0	0.01387	B	0.492767	0.12038	N	0.775970	1	0.08975	N	1.5	0.37844	L	1.5	0.31205	T	.	.	.	0.079	0.05414	-0.9522	0.40590	T	0.013	0.05177	T	9	0.0738807	0.11221	T	0.006688	0.17671	T	.	.	0.424	0.46857	0.227260227426	0.22338	0.14027752710669766	0.13950	.	.	0.272260308266	0.06438	T	0.02019	0.15942	T	-0.287627	0.09875	T	-0.650933	0.08890	T	0.0144502557814121	0.00292	T	0.365963	0.08520	T	0.06450719	0.13693	0.05777035	0.10561	0.06450719	0.13693	0.05777035	0.10561	-4.613	0.32335	T	.	.	0.080	0.07745	B	.	.	1.422825	0.18399	13.71	0.67381891660833093	0.08338	0.12627	0.17383	N	AEFBI	0.125521	0.24207	N	-0.99888411583591	0.08627	0.4052642	-1.0242728683202	0.09252	0.4592645	0.998551054546306	0.37186	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.61	-1.27	0.08863	1.764000	0.38100	1.537000	0.27200	-0.154000	0.11915	0.012000	0.18695	0.816000	0.27083	0.972000	0.54974	0.0804:0.1234:0.3694:0.4268	3.991	0.09027	226	0.91233	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	283.11	35	chr1	149944086	.	G	T	283.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.080e+00;DP=823;ExcessHet=0.1072;FS=65.825;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=1.74;ReadPosRankSum=1.23;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,103,1358	19	0	2	0
chr1	149944087	149944087	G	T	exonic	OTUD7B	.	nonsynonymous SNV	OTUD7B:NM_020205:exon12:c.C2302A:p.P768T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.001	B	0.493	N	1.000	N	0.69	N	1.54	T	-0.945	T	0.015	T	0.146	-1.272	0.044	0.298	-0.026	0.286	6.053	0.015	0.00590379492938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	2.519e-05	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.629	0.07220	T	0.0	0.02946	B	0.001	0.04355	B	0.492767	0.12038	N	0.775970	1	0.08975	N	0.95	0.23787	L	1.54	0.30133	T	.	.	.	0.094	0.07398	-0.9453	0.41764	T	0.015	0.05946	T	9	0.06741443	0.09390	T	0.005904	0.15371	T	.	.	0.395	0.42099	0.210429274316	0.20668	0.16332771869896884	0.16252	.	.	0.265418171883	0.05552	T	0.020884	0.16359	T	-0.292316	0.09404	T	-0.657668	0.08424	T	0.0223200496208559	0.00945	T	0.609739	0.23084	T	0.042331636	0.06401	0.05927691	0.11097	0.042331636	0.06400	0.05927691	0.11096	-5.126	0.38180	T	.	.	0.068	0.02670	B	.	.	0.227054	0.06087	2.531	0.32260726470064655	0.01860	0.35550	0.25328	N	AEFBI	0.100762	0.20253	N	-0.971315924865266	0.09220	0.4354749	-0.981618169799121	0.10198	0.5121202	0.998403678352649	0.36906	0.615465	0.37627	0	0.577304	0.33150	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.61	0.298	0.15015	0.179000	0.16653	0.002000	0.13306	-0.127000	0.13314	0.000000	0.06391	0.063000	0.22074	0.972000	0.54974	0.1917:0.4541:0.3542:0.0	6.053	0.19022	226	0.91233	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	176.98	35	chr1	149944087	.	G	T	176.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.505e+00;DP=782;ExcessHet=0.0000;FS=34.234;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.06;ReadPosRankSum=0.050;SOR=5.282	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,103,1358	20	0	1	0
chr1	149967417	149967417	G	T	exonic	OTUD7B	.	nonsynonymous SNV	OTUD7B:NM_020205:exon4:c.C379A:p.P127T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.977	D	0.821	P	0.000	D	1.000	D	1.04	L	1.59	T	-1.151	T	0.074	T	0.401	2.528	14.41	5.14	2.672	7.412	17.770	0.172	0.0106752715334	.	.	1.657e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs781926290	3.42e-06	3.42e-06	2.723e-06	4.125e-06	5.797e-05	1e-06	7.3e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.421	0.09806	T	0.448	0.13030	T	0.977	0.58535	D	0.821	0.59116	P	0.000014	0.62929	D	0.115143	0.999772	0.48980	D	1.895	0.50365	L	1.53	0.30401	T	-1.9	0.44284	N	0.533	0.56145	-1.1511	0.00992	T	0.074	0.29928	T	9	0.3113083	0.48602	T	0.010675	0.27473	T	0.172	0.43662	0.331	0.31681	0.576807342058	0.57349	0.5381415102137146	0.53739	.	.	0.505509018898	0.39595	T	0.050265	0.28546	T	-0.21539	0.18625	T	-0.365641	0.37399	T	0.620221138000488	0.37215	D	0.90111	0.65631	D	0.24540749	0.47499	0.27442563	0.53371	0.24540749	0.47499	0.27442563	0.53370	-2.812	0.08294	T	.	.	0.080	0.07889	B	.;.	.;.	3.963249	0.58142	23.9	0.97043199739254848	0.32117	0.99089	0.91063	D	AEFDBI	0.884291	0.81386	D	0.586418893873208	0.72326	5.788201	0.627242968026024	0.76924	6.581796	0.999999999938486	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.14	5.14	0.70008	7.735000	0.83874	11.839000	0.97761	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.770	0.88400	249	0.90233	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1299.98	34	chr1	149967417	.	G	T	1299.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.689e+00;DP=824;ExcessHet=0.0000;FS=3.236;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.40;ReadPosRankSum=1.65;SOR=0.991	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1234	20	0	1	0
chr1	149971194	149971194	T	C	exonic	OTUD7B	.	nonsynonymous SNV	OTUD7B:NM_020205:exon3:c.A143G:p.H48R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.955	P	0.821	P	0.000	N	0.972	D	1.795	L	1.51	T	-1.044	T	0.085	T	0.43	3.209	16.75	4.21	1.038	4.646	7.727	0.158	0.0173175644143	.	.	3.313e-05	0	0	0	0	2.998e-05	0	0.0001	3.23e-05	5	154602	rs782589872	2.326e-05	2.326e-05	2.042e-05	2.613e-05	0.0002	1.674e-05	1.478e-05	8.887e-05	7.054e-05	0	0	0	2.519e-05	0	0	1.619e-05	3.312e-05	0.0002	6.575e-06	6.568e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.008	0.58626	D	0.078	0.42261	T	0.955	0.54515	P	0.821	0.59116	P	0.000030	0.55875	N	0.158618	0.972114	0.38921	D	.	.	.	1.36	0.34452	T	-2.6	0.55983	D	0.497	0.53006	-1.0437	0.16207	T	0.085	0.33213	T	9	0.28200626	0.45778	T	0.017318	0.38971	T	0.158	0.41098	0.486	0.56939	0.46682414995	0.46307	0.4918515549687504	0.49106	.	.	0.800731658936	0.82074	T	0.119344	0.44081	T	-0.20163	0.20570	T	-0.345876	0.39678	T	0.854708969593048	0.50576	D	0.851715	0.53598	D	0.08730503	0.20326	0.16634259	0.38433	0.08730503	0.20325	0.16634259	0.38432	-12.713	0.88146	D	.	.	0.293	0.52459	B	.;.	.;.	3.927545	0.57385	23.9	0.98816473526491955	0.46704	0.97421	0.74643	D	AEFBI	0.358637	0.44924	N	0.431720512031974	0.63175	4.546171	0.42264134755884	0.62977	4.522795	0.999914555884508	0.45857	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.674467	0.66132	0	.	.	5.34	4.21	0.48984	4.781000	0.62082	6.186000	0.54701	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.1628:0.0:0.8372	7.727	0.27930	247	0.90334	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1428.98	35	chr1	149971194	.	T	C	1428.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=836;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.83;ReadPosRankSum=1.84;SOR=0.699	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1245	20	0	1	0
chr1	150157391	150157391	G	A	exonic	PLEKHO1	.	nonsynonymous SNV	PLEKHO1:NM_016274:exon5:c.G430A:p.V144I,	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.221	B	0.023	B	.	.	1.000	D	1.79	L	2.29	T	-1.117	T	0.032	T	0.213	3.352	17.29	4.69	2.595	3.592	17.138	0.037	0.00808159651396	0.0008	0.000798722	0.0007	0.0003	8.669e-05	0	0	0.0007	0	0.0018	0.000718	111	154602	rs138447368	0.0011	0.0011	0.0011	0.0010	0.0018	0.0010	0.0010	0.0016	0.0015	0.0002	0.0002	0	0	5.616e-05	0.0002	0.0012	0.0012	0.0018	0.0006	0.0006	0.0006	0.0005	0.0023	0.0005	0.0004	0.0013	0.0010	9.623e-05	0	0.0005	0	0	9.411e-05	0	0.0009	0.0005	0.0023	0.092	0.31682	T	0.19	0.28482	T	0.221	0.30336	B	0.023	0.19966	B	.	.	.	.	0.998905	0.81001	D	1.53	0.38800	L	2.29	0.17113	T	-0.71	0.20145	N	0.383	0.42443	-1.1174	0.02503	T	0.032	0.13548	T	9	0.014858186	0.00312	T	0.008082	0.21418	T	0.037	0.09474	.	.	0.182106788282	0.17826	0.12915185327965312	0.12840	0.604580935756	0.55391	0.515151619911	0.40944	T	0.119732	0.44148	T	-0.532423	0.00372	T	-0.543423	0.17962	T	0.0283545557211966	0.01740	T	0.886311	0.61284	D	0.16779375	0.37198	0.1340696	0.32135	0.16779375	0.37198	0.1340696	0.32135	-5.899	0.45427	T	.	.	0.127	0.27009	B	.	.	4.085505	0.60807	24.3	0.99834687627831231	0.91628	0.81859	0.41180	D	AEFDBCIJ	0.232520	0.35557	N	0.0816787904040062	0.45608	2.81457	0.207003258968294	0.50237	3.217754	0.999999994848501	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.702456	0.68683	0	0.723	0.93126	0	.	.	4.69	4.69	0.58546	3.601000	0.53812	11.723000	0.94851	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	17.138	0.86624	330	0.86467	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	782.98	33	chr1	150157391	.	G	A	782.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.76;DP=768;ExcessHet=0.0000;FS=12.524;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=-1.654e+00;SOR=2.330	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1248	20	0	1	0
chr1	150159129	150159129	G	A	exonic	PLEKHO1	.	nonsynonymous SNV	PLEKHO1:NM_001304723:exon5:c.G320A:p.R107Q	.	.	427	1071	24	0	0	24	0.0110803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.905	P	0.267	B	0.014	N	0.984	D	1.7	L	0.72	T	-1.061	T	0.070	T	0.343	3.911	19.89	4.97	2.576	3.972	13.188	0.075	.	0.0066	0.00519169	0.0102	0.0021	0.0025	0.0001	0.0194	0.0116	0.0170	0.0160	0.0094307	1458	154602	rs41264971	0.0088	0.0088	0.0084	0.0092	0.0179	0.0087	0.0086	0.0172	0.0169	0.0009	0.0029	0.0022	0.0001	0.0215	0.0094	0.0085	0.0083	0.0179	0.0066	0.0066	0.0067	0.0065	0.0135	0.0063	0.0061	0.0109	0.0099	0.0016	0.0011	0.0021	0.0023	0	0.0193	0.0034	0.0091	0.0038	0.0135	0.054	0.47745	T	0.267	0.31225	T	0.905	0.49920	P	0.267	0.39770	B	0.014129	0.28625	N	0.351400	0.984405	0.40141	D	2.135	0.59519	M	0.72	0.50976	T	-1.43	0.35194	N	0.374	0.41557	-1.0613	0.11434	T	0.070	0.28577	T	10	0.0047944784	0.00101	T	.	.	.	0.075	0.21907	.	.	.	.	0.18990143602419438	0.18908	0.464578811842	0.45924	0.511497855186	0.40431	T	0.030915	0.44076	T	-0.406135	0.02109	T	-0.342536	0.40057	T	0.00607151602267701	0.00067	T	0.808919	0.46506	T	0.106724344	0.25235	0.06900925	0.14484	0.106724344	0.25235	0.06900925	0.14484	-3.939	0.22888	T	.	.	0.102	0.17869	B	.;.	.;.	3.784036	0.54430	23.5	0.99942678426939813	0.99848	0.83582	0.42690	D	ALL	0.714528	0.66698	D	0.357264008198067	0.59123	4.089313	0.408174213897655	0.62074	4.416803	0.99999999999741	0.74766	0.730579	0.87903	0	0.672317	0.65289	0	0.702456	0.68683	0	0.648885	0.59868	0	.	.	4.97	4.97	0.65419	3.396000	0.52309	11.733000	0.95036	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.853000	0.40368	0.0:0.1598:0.8402:0.0	13.188	0.59118	330	0.86467	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	579.98	35	chr1	150159129	.	G	A	579.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.09;DP=779;ExcessHet=0.0000;FS=0.996;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.83;ReadPosRankSum=-1.627e+00;SOR=0.856	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1480	20	0	1	0
chr1	150262565	150262565	T	G	exonic	CA14	.	nonsynonymous SNV	CA14:NM_012113:exon5:c.T440G:p.L147W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.976	D	0.004	N	1.000	D	2.945	M	-0.39	T	0.081	D	0.475	T	0.487	4.729	26.3	5.95	2.272	2.994	14.359	0.420	0.0481751921927	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868955467	4.789e-06	4.788e-06	2.723e-06	6.875e-06	0.0002	1.99e-06	1.28e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	0	1.656e-05	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.014	0.62352	D	1.0	0.90584	D	0.976	0.73562	D	0.003748	0.34535	N	0.293803	0.999899	0.50595	D	3.525	0.93020	H	-0.39	0.69158	T	-3.2	0.64710	D	0.488	0.52208	0.081	0.83822	D	0.475	0.79836	T	10	0.7189653	0.73534	D	0.048175	0.63255	D	0.420	0.72930	0.496	0.58520	0.925177436645	0.92441	0.8300693181544953	0.82965	0.834932950729	0.67778	0.391995221376	0.23950	T	0.408955	0.76413	T	0.0695769	0.60799	D	-0.137834	0.60305	T	0.963766038417816	0.66755	D	0.672833	0.28129	T	0.39998445	0.60731	0.4148782	0.65618	0.39998445	0.60732	0.4148782	0.65618	-11.534	0.82507	D	.	.	0.323	0.54703	B	.;.	.;.	4.715397	0.75797	26.4	0.96132293750471565	0.28808	0.68790	0.33936	D	AEFDBCIJ	0.801215	0.72698	D	0.591802258892779	0.72664	5.841212	0.510685499338433	0.68709	5.257519	0.999999999998696	0.74766	0.67177	0.52595	0	0.694456	0.67091	0	0.702456	0.68683	0	0.666353	0.64628	0	.	.	5.95	5.95	0.96415	5.711000	0.68052	5.053000	0.47016	0.665000	0.62972	0.901000	0.31451	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	14.359	0.66320	115	0.95340	Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1695.98	34	chr1	150262565	.	T	G	1695.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=859;ExcessHet=0.0000;FS=0.600;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.08;ReadPosRankSum=1.98;SOR=0.760	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1474	20	0	1	0
chr1	150308149	150308149	G	A	exonic	MRPS21	.	nonsynonymous SNV	MRPS21:NM_018997:exon2:c.G185A:p.R62Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.702	P	0.15	B	.	.	1.000	D	.	.	0.9	T	-1.100	T	0.049	T	0.621	4.582	24.9	4.94	2.572	8.376	17.952	0.110	0.0181808918246	.	.	0.0001	0	8.642e-05	0.0014	0	0	0	0	8.41e-05	13	154602	rs782536677	2.675e-05	3.078e-05	2.863e-05	2.486e-05	0.0012	2.003e-05	1.759e-05	0.0006	0.0004	0	6.715e-05	0	0.0005	0	0.0012	9.022e-06	1.661e-05	0	4.603e-05	4.597e-05	3.857e-05	5.385e-05	0.0008	2.111e-05	1.528e-05	0.0003	0.0002	0	0	0	0	0.0008	0	0	4.41e-05	0	0	.	.	.	0.337	0.18178	T	0.702	0.41889	P	0.15	0.34161	B	.	.	.	.	0.999954	0.52396	D	.	.	.	0.9	0.45248	T	.	.	.	0.521	0.55106	-1.0998	0.04116	T	0.049	0.20789	T	8	0.06880489	0.09783	T	0.018181	0.40156	T	.	.	.	.	0.491248951702	0.48758	0.4448069608062313	0.44398	.	.	0.589424967766	0.51412	T	0.069	0.33701	T	-0.302403	0.08434	T	-0.242536	0.50551	T	0.246026089941102	0.22694	T	0.839916	0.51465	T	0.20210424	0.42244	0.2992135	0.55955	0.20210424	0.42244	0.2992135	0.55954	-6.355	0.49157	T	.	.	0.082	0.08997	B	.;.	.;.	3.830593	0.55368	23.6	0.99895810253405359	0.96895	0.98514	0.83591	D	AEFBI	0.939450	0.94008	D	0.379161901788025	0.60294	4.216808	0.475931300797393	0.66399	4.946976	0.99999994651444	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.94	4.94	0.64645	8.708000	0.91083	8.428000	0.77165	0.591000	0.32079	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:1.0:0.0	17.952	0.88976	92	0.96160	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	1244.33	41	chr1	150308149	.	G	A	1244.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.33;DP=835;ExcessHet=0.0000;FS=4.196;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=14.30;ReadPosRankSum=1.22;SOR=1.157	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,117,1755	19	0	1	1
chr1	150473141	150473141	C	T	exonic	RPRD2	.	nonsynonymous SNV	RPRD2:NM_001297674:exon10:c.C4115T:p.P1372L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.16	B	0.06	B	0.040	N	1.000	D	0.345	N	0.94	T	-1.089	T	0.028	T	0.231	1.509	10.99	3.54	1.036	1.611	6.794	0.035	0.00650025399982	0.0002	.	8.314e-05	0	0	0.0006	0	4.52e-05	0.0022	0	6.47e-05	10	154602	rs369152525	3.558e-05	3.557e-05	2.451e-05	4.676e-05	0.0006	2.763e-05	2.502e-05	0.0004	0.0004	0	0	0.0002	0.0006	0	0	1.439e-05	9.939e-05	2.319e-05	4.596e-05	4.593e-05	3.854e-05	5.37e-05	0.0004	2.108e-05	1.526e-05	7.293e-05	3.03e-05	0	0	0	0	0.0004	0	0	4.41e-05	0	0.0004	0.003	0.68238	D	0.011	0.64786	D	0.16	0.28337	B	0.06	0.26717	B	0.039592	0.24153	N	0.395014	0.540086	0.31419	N	0.55	0.14455	N	0.94	0.43672	T	-1.84	0.43149	N	0.201	0.32037	-1.0887	0.05752	T	0.028	0.11926	T	10	0.043866336	0.03283	T	0.006	0.17129	T	0.035	0.08770	.	.	0.0675242888579	0.06100	0.3461243475387154	0.34526	0.217698442251	0.24293	0.446594148874	0.31478	T	0.023304	0.17814	T	-0.410387	0.01976	T	-0.507259	0.21597	T	0.0584424013723955	0.06921	T	0.741226	0.36032	T	0.06642623	0.14291	0.08423271	0.19361	0.06642623	0.14290	0.08423271	0.19361	-4.05	0.24549	T	.	.	0.090	0.12465	B	.;.	.;.	2.259363	0.28866	17.94	0.95054547439095494	0.26075	0.76675	0.37624	D	AEFBCI	.	.	.	-0.323738044313159	0.28249	1.556557	-0.189718431869534	0.31914	1.81058	0.273121819482342	0.18913	0.67177	0.52595	0	0.702456	0.74545	0	0.688494	0.62686	0	0.683762	0.67416	0	.	.	4.47	3.54	0.39650	1.545000	0.35775	4.014000	0.41189	0.599000	0.40250	0.978000	0.35038	0.999000	0.35428	0.991000	0.66497	0.3332:0.5808:0.0:0.0859	6.794	0.22898	99	0.95913	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1479.98	38	chr1	150473141	.	C	T	1479.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=881;ExcessHet=0.0000;FS=0.682;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=-3.890e-01;SOR=0.793	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1312	20	0	1	0
chr1	150509669	150509669	G	A	exonic	ECM1	.	nonsynonymous SNV	ECM1:NM_001202858:exon3:c.G130A:p.A44T	Urbach-Wiethe disease, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	696073	not_provided|ECM1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.993	D	0.000	D	0.514	D	1.935	M	-1.4	T	0.057	D	0.531	D	0.288	4.214	21.9	4.32	2.233	3.019	12.141	0.558	.	0.0078	0.00199681	0.0075	0.0015	0.0034	0.0015	0.0104	0.0113	0.0055	0.0007	0.0076713	1186	154602	rs145971597	0.0090	0.0090	0.0091	0.0089	0.0106	0.0088	0.0088	0.0104	0.0104	0.0015	0.0039	0.0038	0.0007	0.0090	0.0012	0.0106	0.0075	0.0006	0.0078	0.0078	0.0082	0.0075	0.0129	0.0075	0.0073	0.0122	0.0119	0.0017	0.0493	0.0041	0.0026	0.0016	0.0107	0.0034	0.0129	0.0047	0	0.0	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	0.984	0.81110	D	0.000452	0.44317	D	0.000000	0.51447	0.31846	D	2.28	0.64929	M	-1.4	0.80474	T	-2.46	0.53736	N	0.833	0.82862	0.057	0.83373	D	0.531	0.82593	D	10	0.013135403	0.00280	T	.	.	.	0.558	0.81831	.	.	0.964982720333	0.96460	0.4886453964960374	0.48784	0.508991846458	0.49041	0.44282656908	0.30964	T	0.472687	0.80486	T	-0.301881	0.08483	T	-0.192127	0.55391	T	0.0297393838860595	0.01950	T	0.877412	0.59112	D	0.40281728	0.60927	0.41210094	0.65422	0.3853729	0.59703	0.41210094	0.65423	-3.851	0.22768	T	.	.	0.431	0.61244	A	.;.;.	.;.;.	4.999909	0.82956	27.9	0.99912066550671652	0.98095	0.75519	0.36979	D	AEFDBI	0.639159	0.61731	D	0.54675931145864	0.69884	5.420989	0.48768739134762	0.67173	5.048693	0.999999873841575	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.32	4.32	0.50899	4.287000	0.58794	9.474000	0.80875	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:0.0:1.0:0.0	12.141	0.53302	167	0.93508	.;.;.	MRPS21|MRPS21|CTSK|ARNT	Heart_Atrial_Appendage|Skin_Not_Sun_Exposed_Suprapubic|Whole_Blood|Whole_Blood	ARNT	Artery_Tibial	rs145971597	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1184.98	34	chr1	150509669	.	G	A	1184.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=828;ExcessHet=0.0000;FS=0.754;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=0.010;SOR=0.580	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,114,1710	20	0	1	0
chr1	150553575	150553575	C	T	exonic	ADAMTSL4	.	nonsynonymous SNV	ADAMTSL4:NM_001288607:exon6:c.C584T:p.P195L	Ectopia lentis et pupillae, Autosomal recessive;Ectopia lentis, isolated, autosomal recessive, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	277171	ADAMTSL4-related_disorder|not_provided|Ectopia_lentis_2,_isolated,_autosomal_recessive	.|MedGen:C3661900|MONDO:MONDO:0009152,MedGen:C3541474,OMIM:225100,Orphanet:1885	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.15	T	0.957	D	0.223	B	.	.	1.000	N	0.805	L	0.09	T	-1.099	T	0.049	T	0.14	2.337	13.77	1.38	0.917	0.628	3.548	0.080	.	0.0017	0.00299521	0.0008	0.0077	8.639e-05	0.0012	0	7.493e-05	0.0011	6.057e-05	0.0007956	123	154602	rs139990606	0.0003	0.0003	0.0003	0.0003	0.0085	0.0003	0.0003	0.0077	0.0074	0.0085	0.0004	0.0002	0.0008	0	0.0017	4.227e-05	0.0008	5.797e-05	0.0021	0.0021	0.0021	0.0020	0.0071	0.0019	0.0018	0.0064	0.0062	0.0071	0	0.0009	0	0.0004	0	0	2.943e-05	0.0005	0.0004	0.004	0.65419	D	0.031	0.62352	D	0.814	0.48154	P	0.122	0.36167	B	.	.	.	.	1	0.08975	N	1.495	0.37439	L	-0.16	0.65378	T	-2.04	0.46842	N	0.342	0.41063	-1.0993	0.04177	T	0.049	0.20750	T	9	0.0045513213	0.00094	T	.	.	.	0.080	0.23350	.	.	0.764317863173	0.76217	0.4136307985109546	0.41279	0.161310925367	0.18205	0.377757012844	0.21938	T	0.007129	0.06547	T	-0.468299	0.00871	T	-0.44159	0.28629	T	0.0101449848829457	0.00137	T	0.574643	0.20620	T	0.045548607	0.07475	0.064311706	0.12871	0.045548607	0.07474	0.064311706	0.12871	-4.548	0.31512	T	0.3185897759273933	0.41670	0.079	0.12371	B	.;.;.;.	.;.;.;.	2.397519	0.30800	18.55	0.99121636102400645	0.53011	0.09418	0.15178	N	AEFGBCI	0.059500	0.11243	N	-0.554865975683006	0.20332	1.071003	-0.661756969249833	0.17921	0.9550472	0.999997490563558	0.74766	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.592323	0.36904	0	.	.	4.54	1.38	0.21262	0.658000	0.24662	1.695000	0.28095	0.589000	0.31548	0.001000	0.13787	0.003000	0.18671	0.186000	0.21481	0.1672:0.5646:0.1639:0.1043	3.548	0.07391	114	0.95383	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	4426.98	90	chr1	150553575	.	C	T	4426.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.19;DP=1847;ExcessHet=0.0000;FS=9.932;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=1.13;SOR=1.104	GT:AD:DP:GQ:PL	0/0:100,0:100:99:0,120,1800	20	0	1	0
chr1	150553740	150553740	G	A	exonic	ADAMTSL4	.	nonsynonymous SNV	ADAMTSL4:NM_001288607:exon6:c.G749A:p.R250Q	Ectopia lentis et pupillae, Autosomal recessive;Ectopia lentis, isolated, autosomal recessive, Autosomal recessive	.	0	1512	10	0	0	10	0.00329598	.	.	277172	not_provided|Inborn_genetic_diseases|Ectopia_lentis_2,_isolated,_autosomal_recessive	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009152,MedGen:C3541474,OMIM:225100,Orphanet:1885	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.66	T	0.003	B	0.001	B	.	.	1.000	N	0	N	0.46	T	-0.969	T	0.029	T	0.037	0.013	4.083	-2.09	-0.169	-0.058	9.561	0.036	0.00702192640697	0.0004	.	0.0003	0	0.0002	0	0	0.0006	0	6.06e-05	0.000304	47	154602	rs145673891	0.0003	0.0003	0.0003	0.0003	0.0007	0.0003	0.0002	0.0005	0.0004	2.987e-05	0.0007	0.0065	0	0	0.0003	0.0001	0.0005	3.478e-05	0.0005	0.0005	0.0005	0.0005	0.0026	0.0004	0.0004	0.0019	0.0017	2.46e-05	0	0.0026	0.0084	0	0	0	7.399e-05	0	0	0.843	0.04699	T	0.669	0.06836	T	0.0	0.07471	B	0.0	0.04355	B	.	.	.	.	1	0.08975	N	-0.895	0.01383	N	0.17	0.60485	T	0.47	0.03297	N	0.054	0.02559	-0.9685	0.37510	T	0.029	0.12234	T	9	0.004232824	0.00085	T	0.007022	0.18594	T	0.036	0.09122	.	.	0.391930172978	0.38808	0.09893298444509327	0.09824	0.139450407887	0.15718	0.210682630539	0.00840	T	0.002107	0.01509	T	-0.611793	0.00124	T	-0.726988	0.04466	T	0.00378264534191721	0.00040	T	0.60384	0.22664	T	0.015131475	0.00124	0.031480342	0.01744	0.015131475	0.00124	0.031480342	0.01744	-4.347	0.31123	T	0.05814621507014385	0.01456	0.061	0.02639	B	.;.;.;.	.;.;.;.	-0.098849	0.03647	0.728	0.46224246337830405	0.03686	0.02550	0.07077	N	AEFDBCI	0.030691	0.03138	N	-1.68947305197247	0.00880	0.03806895	-1.68669727650715	0.01197	0.05389348	0.999998883111714	0.74766	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.664235	0.64389	0	.	.	4.16	-2.09	0.06831	-0.728000	0.05029	0.010000	0.13426	-1.938000	0.00493	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3688:0.0:0.6312:0.0	9.561	0.38534	114	0.95383	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1995.98	90	chr1	150553740	.	G	A	1995.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=1489;ExcessHet=0.0000;FS=3.231;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.72;ReadPosRankSum=-2.266e+00;SOR=0.721	GT:AD:DP:GQ:PL	0/0:100,0:100:99:0,120,1800	20	0	1	0
chr1	150553995	150553995	C	T	exonic	ADAMTSL4	.	nonsynonymous SNV	ADAMTSL4:NM_001288607:exon6:c.C1004T:p.P335L	Ectopia lentis et pupillae, Autosomal recessive;Ectopia lentis, isolated, autosomal recessive, Autosomal recessive	.	0	1517	5	0	0	5	0.00164528	.	.	1416245	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.007	B	0.003	B	.	.	1.000	N	0.805	L	0.48	T	-1.010	T	0.054	T	0.347	0.305	5.653	2.58	0.516	0.215	7.476	0.090	0.0163352836725	7.9e-05	.	5.882e-05	0.0001	0.0002	0	0	0	0	0.0002	3.88e-05	6	154602	rs373492306	4.248e-05	4.241e-05	3.272e-05	5.234e-05	0.0003	3.382e-05	3.07e-05	0.0002	0.0002	0.0001	4.489e-05	3.836e-05	0	0	0	1.979e-05	6.631e-05	0.0003	4.596e-05	4.592e-05	3.854e-05	5.373e-05	9.623e-05	2.108e-05	1.526e-05	3.243e-05	1.91e-05	9.623e-05	0	0	0	0	0	0	2.941e-05	0.0005	0	0.176	0.23271	T	0.031	0.59732	D	0.004	0.14184	B	0.001	0.08700	B	.	.	.	.	1	0.08975	N	1.3	0.32576	L	0.15	0.60734	T	-1.0	0.30555	N	0.213	0.37197	-1.0097	0.27012	T	0.054	0.22693	T	9	0.05783966	0.06707	T	0.016335	0.37549	T	0.090	0.26093	.	.	0.497280371566	0.49363	0.2504515315635002	0.24959	0.123774248639	0.13926	0.301840782166	0.10675	T	0.006203	0.05637	T	-0.302344	0.08439	T	-0.392638	0.34243	T	0.0139760605747963	0.00268	T	0.539146	0.18203	T	0.026439508	0.01702	0.027683752	0.00939	0.026439508	0.01702	0.027683752	0.00939	-4.202	0.26780	T	0.3393798290283838	0.43719	0.079	0.11220	B	.;.;.;.	.;.;.;.	1.656641	0.21132	15.06	0.48280188970837018	0.04016	0.19121	0.20536	N	AEFDBHCI	0.054864	0.10012	N	-1.02902219604766	0.08005	0.3738584	-1.0404645448547	0.08907	0.4402992	0.999999562748326	0.74766	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.664235	0.64389	0	.	.	4.45	2.58	0.30011	0.517000	0.22539	2.704000	0.34183	-0.187000	0.09635	0.000000	0.06391	0.058000	0.21979	0.001000	0.02609	0.0:0.7359:0.1697:0.0944	7.476	0.26547	114	0.95383	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1382.98	42	chr1	150553995	.	C	T	1382.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.730e-01;DP=909;ExcessHet=0.0000;FS=1.634;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.26;ReadPosRankSum=1.85;SOR=0.542	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr1	150558482	150558482	C	T	exonic	ADAMTSL4	.	nonsynonymous SNV	ADAMTSL4:NM_001378596:exon15:c.C2392T:p.R798W	Ectopia lentis et pupillae, Autosomal recessive;Ectopia lentis, isolated, autosomal recessive, Autosomal recessive	.	0	1517	5	0	0	5	0.00164528	.	.	277096	not_provided|Ectopia_lentis_et_pupillae|Ectopia_lentis_2,_isolated,_autosomal_recessive	MedGen:CN517202|MONDO:MONDO:0009153,MedGen:C1644196,OMIM:225200,Orphanet:1885|MONDO:MONDO:0009152,MedGen:C3541474,OMIM:225100,Orphanet:1885	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.143	B	0.027	B	.	.	1.000	N	1.525	L	0.64	T	-1.018	T	0.053	T	0.466	0.608	7.277	2.98	0.620	0.170	10.771	0.121	0.0107602712108	.	.	5.917e-05	0	8.696e-05	0.0001	0	6.198e-05	0	6.062e-05	7.12e-05	11	154602	rs763279620	0.0001	0.0001	0.0001	0.0001	0.0024	0.0001	0.0001	0.0015	0.0012	0.0001	0.0003	3.828e-05	7.557e-05	0	0.0024	0.0001	0.0002	9.275e-05	5.257e-05	5.253e-05	5.139e-05	5.38e-05	0.0002	2.557e-05	1.83e-05	5.284e-05	2.834e-05	2.413e-05	0	0.0002	0.0003	0	0	0	4.411e-05	0	0	0.035	0.45039	D	0.13	0.40586	T	0.047	0.27649	B	0.018	0.19653	B	.	.	.	.	0.999998	0.08975	N	1.76	0.45711	L	0.64	0.52867	T	-2.13	0.49684	N	0.424	0.52740	-1.0175	0.24528	T	0.053	0.22501	T	9	0.21304247	0.37782	T	0.01076	0.27663	T	0.121	0.33580	0.576	0.70087	0.40318662893	0.39936	0.2945230833247012	0.29365	0.162550236098	0.18344	0.503340125084	0.39293	T	0.043368	0.26478	T	-0.319284	0.06957	T	-0.398846	0.33517	T	0.0218473518408561	0.00891	T	0.825917	0.53896	T	0.054268133	0.10388	0.101239555	0.24231	0.054268133	0.10388	0.101239555	0.24231	-10.427	0.76646	D	0.43338898746177695	0.52014	0.130	0.31532	B	.;.;.;.	.;.;.;.	2.827766	0.37270	20.5	0.98761348635264046	0.45816	0.32716	0.24653	N	AEFDBHCI	0.272829	0.38837	N	-0.791798438746134	0.13523	0.6667762	-0.768056015083062	0.15279	0.802803	0.999999317975028	0.74766	0.660377	0.49826	0	0.514364	0.08380	0	0.696353	0.63694	0	0.638787	0.57140	0	.	.	4.91	2.98	0.33575	-0.145000	0.10248	1.052000	0.23646	-0.136000	0.12710	0.000000	0.06391	1.000000	0.68203	0.222000	0.22517	0.5033:0.4967:0.0:0.0	10.771	0.45521	114	0.95383	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	678.98	34	chr1	150558482	.	C	T	678.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.388e+00;DP=734;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.31;ReadPosRankSum=-2.121e+00;SOR=0.569	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1285	20	0	1	0
chr1	150579406	150579406	G	A	exonic	MCL1	.	nonsynonymous SNV	MCL1:NM_021960:exon1:c.C125T:p.A42V	.	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.562	P	0.201	B	0.004	N	0.702	D	0.55	N	2.83	T	-1.150	T	0.032	T	0.3	3.983	20.4	4.29	2.218	1.255	12.107	0.109	0.0954116038981	.	.	0.0002	0	0	0	0	0.0002	0	0.0004	7.12e-05	11	154602	rs780046930	7.902e-05	8.003e-05	7.152e-05	8.66e-05	0.0002	6.694e-05	6.26e-05	0.0001	0.0001	3.429e-05	5.465e-05	0	0	0	0.0002	8.129e-05	0	0.0002	3.283e-05	3.281e-05	2.569e-05	4.028e-05	0.0002	1.26e-05	7.97e-06	4.88e-06	1.83e-06	2.405e-05	0	0	0	0	0	0	2.94e-05	0.0005	0.0002	0.002	0.72154	D	0.016	0.61642	D	0.295	0.38380	B	0.099	0.36881	B	0.003559	0.00969	N	3.262280	0.702265	0.33433	D	0.975	0.24501	L	2.83	0.28391	T	-0.57	0.42763	N	0.266	0.33030	-1.1500	0.01025	T	0.032	0.13811	T	10	0.082969844	0.13751	T	0.095412	0.76423	D	0.109	0.30843	0.05	0.00095	0.346610688518	0.34274	0.40779733322815936	0.40695	1.45722361223	0.86282	0.835543513298	0.87413	D	0.300713	0.67319	T	-0.365894	0.03807	T	-0.460229	0.26575	T	0.180617272970187	0.19274	T	0.832317	0.50011	T	0.20940018	0.43205	0.346542	0.60321	0.20940018	0.43205	0.346542	0.60320	-4.533	0.31434	T	.	.	0.098	0.40344	B	.;.	.;.	3.745128	0.53647	23.4	0.99891082074569293	0.96513	0.55398	0.29854	D	AEFDBHCIJ	0.204847	0.33125	N	-0.213969096881413	0.32560	1.837549	-0.138230275877425	0.33864	1.941685	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.29	4.29	0.50359	0.571000	0.23372	8.909000	0.78379	0.588000	0.31329	0.825000	0.30060	1.000000	0.68203	0.286000	0.24163	0.0:0.0:1.0:0.0	12.107	0.53117	111	0.95468	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1109.98	42	chr1	150579406	.	G	A	1109.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.985e+00;DP=830;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.49;ReadPosRankSum=3.000e-03;SOR=0.665	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1259	20	0	1	0
chr1	150629064	150629064	-	A	exonic	ENSA	.	frameshift insertion	ENSA:NM_207045:exon1:c.41dupT:p.E15Rfs*12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1011.94	38	chr1	150629064	.	T	TA	1011.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.520e-01;DP=825;ExcessHet=0.0000;FS=1.989;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.67;ReadPosRankSum=-1.045e+00;SOR=0.466	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1327	20	0	1	0
chr1	150648331	150648331	T	C	exonic	GOLPH3L	.	nonsynonymous SNV	GOLPH3L:NM_018178:exon5:c.A848G:p.N283S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.059	B	0.018	B	0.000	D	1.000	D	0.6	N	.	.	-1.055	T	0.057	T	0.062	2.120	13.04	5.44	2.285	2.146	9.583	0.059	0.00133956534921	7.7e-05	.	8.733e-06	9.962e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs151307247	6.941e-07	6.841e-07	0	1.401e-06	9.098e-07	0	0	.	.	0	0	0	0	0	0	9.098e-07	0	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.322	0.13479	T	0.325	0.18846	T	0.033	0.20350	B	0.007	0.12992	B	0.000001	0.62929	D	0.053135	0.999549	0.47497	D	0.935	0.23595	L	.	.	.	0.01	0.06868	N	0.101	0.08366	-1.0546	0.13145	T	0.057	0.24130	T	9	0.12311739	0.23365	T	0.00134	0.01910	T	0.059	0.16972	.	.	0.439870908748	0.43606	0.8128185085347226	0.81237	0.233751173166	0.25910	0.503239274025	0.39279	T	0.007388	0.06799	T	-0.362406	0.03996	T	-0.576201	0.14887	T	0.082293515865875	0.10278	T	0.822018	0.48145	T	0.04103833	0.05971	0.07356068	0.15998	0.04103833	0.05971	0.07356068	0.15998	-2.486	0.05687	T	.	.	0.064	0.01600	B	.	.	2.305120	0.29499	18.14	0.98586294083805515	0.43310	0.96024	0.67189	D	AEFGBI	0.361547	0.45112	N	-0.156900096935277	0.34942	2.000839	0.0543681898127127	0.42283	2.554849	0.851272434278252	0.25049	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	1.821000	0.38680	7.846000	0.70742	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0809:0.0:0.9191	9.583	0.38666	78	0.96748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1291.98	34	chr1	150648331	.	T	C	1291.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.190e-01;DP=780;ExcessHet=0.0000;FS=6.937;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.38;ReadPosRankSum=1.32;SOR=0.207	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1422	20	0	1	0
chr1	150706554	150706554	C	T	exonic	HORMAD1	.	nonsynonymous SNV	HORMAD1:NM_001199829:exon9:c.G782A:p.S261N	.	.	591	924	5	2	0	9	0.00484653	0.0001	0.004	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.0	B	0.001	B	0.259	N	1.000	N	0	N	1.6	T	-0.952	T	0.013	T	0.021	-1.184	0.081	-5.53	-1.041	-0.290	10.068	0.025	0.00450385123194	0.0003	0.00159744	0.0010	0.0008	0.0007	0	0	0.0010	0.0089	0.0022	0.0009056	140	154602	rs149020192	0.0007	0.0007	0.0006	0.0008	0.0088	0.0007	0.0006	0.0068	0.0061	0.0006	0.0012	7.712e-05	0	1.921e-05	0.0088	0.0005	0.0016	0.0026	0.0007	0.0008	0.0008	0.0007	0.0033	0.0006	0.0006	0.0021	0.0017	0.0005	0	0.0013	0	0	0	0.0340	0.0006	0.0033	0.0033	0.515	0.07378	T	0.577	0.10103	T	0.0	0.02946	B	0.001	0.04355	B	0.258990	0.15353	N	0.678460	0.999999	0.08975	N	0.36	0.11994	N	1.01	0.41058	T	0.03	0.08495	N	0.062	0.05287	-0.9516	0.40695	T	0.013	0.05273	T	10	0.007304102	0.00166	T	0.004504	0.11063	T	0.025	0.05312	.	.	0.235038932564	0.23097	0.09451566349133236	0.09383	0.119560859201	0.13463	0.323727190495	0.13985	T	0.014143	0.12098	T	-0.72865	0.00024	T	-0.82498	0.01354	T	0.00247882736297853	0.00026	T	0.532847	0.17735	T	0.031866193	0.03105	0.052296355	0.08589	0.031866193	0.03104	0.052296355	0.08588	-3.925	0.26519	T	.	.	0.069	0.03026	B	.;.;.	.;.;.	-1.054777	0.00696	0.020	0.43860755840812143	0.03332	0.01767	0.05549	N	AEFGBI	0.050529	0.08839	N	-1.52745570243576	0.01671	0.07310425	-1.51866549298974	0.02201	0.1008501	0.114593385565486	0.16736	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.19	-5.53	0.02351	-0.356000	0.07711	-0.927000	0.06897	-0.919000	0.02208	0.010000	0.18352	0.002000	0.18203	0.033000	0.13494	0.0:0.2965:0.0998:0.6036	10.068	0.41486	72	0.96948	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4360.08	37	chr1	150706554	.	C	T	4360.08	.	AC=2;AF=0.048;AN=42;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.23;SOR=1.321	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1258	20	1	0	0
chr1	150823203	150823203	G	C	exonic	ARNT	.	nonsynonymous SNV	ARNT:NM_001197325:exon13:c.C1340G:p.T447S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.618	P	0.245	B	0.000	D	1.000	D	1.41	L	2.18	T	-1.100	T	0.031	T	0.423	3.040	16.15	5.63	2.814	7.732	20.053	0.102	0.0138255976363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.20230	T	0.368	0.16570	T	0.477	0.36687	P	0.245	0.38823	B	0.000003	0.62929	D	0.105206	0.999995	0.58761	D	1.275	0.32135	L	2.18	0.18875	T	-2.25	0.50337	N	0.533	0.56145	-1.1003	0.04055	T	0.031	0.13504	T	10	0.35188848	0.52029	T	0.013826	0.33526	T	0.102	0.29158	0.557	0.67547	0.431114715335	0.42728	0.2944380058737869	0.29356	0.548320089044	0.51777	0.604680597782	0.53565	T	0.174712	0.52404	T	-0.0917897	0.37780	T	-0.369626	0.36932	T	0.829880237579346	0.48521	D	0.890911	0.62511	D	0.50772554	0.67546	0.5266784	0.72653	0.50772554	0.67547	0.5266784	0.72654	-5.787	0.45033	T	.	.	0.267	0.51218	B	.;.;.;.	.;.;.;.	4.397633	0.67920	25.2	0.9807955783855552	0.38094	0.98613	0.84704	D	AEFBI	0.897337	0.83940	D	0.258256168962068	0.54048	3.571483	0.420450200219689	0.62840	4.50647	0.999969234503664	0.48965	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	7.895000	0.85911	11.844000	0.97886	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.053	0.97633	67	0.97183	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	869.98	35	chr1	150823203	.	G	C	869.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.790e-01;DP=745;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.00;ReadPosRankSum=0.232;SOR=0.722	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1142	20	0	1	0
chr1	150949193	150949193	C	T	exonic	SETDB1	.	nonsynonymous SNV	SETDB1:NM_001145415:exon11:c.C1339T:p.P447S	.	.	.	.	.	.	.	.	.	.	.	731708	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.29	T	0.011	B	0.007	B	0.000	N	1.000	D	0.69	N	1.56	T	-0.685	T	0.267	T	0.139	2.387	13.94	4.39	1.240	1.113	9.985	0.081	0.0267127335484	0.0005	0.000998403	0.0002	0.0025	0	0	0	0	0	0	0.0002005	31	154602	rs114623995	4.994e-05	4.994e-05	6.262e-05	3.713e-05	0.0020	4.059e-05	3.734e-05	0.0016	0.0015	0.0020	4.472e-05	0	0	0	0.0002	0	4.968e-05	0	0.0004	0.0004	0.0004	0.0004	0.0013	0.0003	0.0003	0.0011	0.0010	0.0013	0	0.0002	0	0	0	0	0	0.0005	0	0.106	0.35918	T	0.56	0.54934	T	0.004	0.15914	B	0.003	0.12992	B	0.000002	0.62929	N	0.102864	0.957295	0.38017	D	1.39	0.34934	L	-2.2	0.86888	D	-0.24	0.15578	N	0.185	0.20129	-0.6855	0.61118	T	0.267	0.63887	T	10	0.005208373	0.00113	T	0.026713	0.49594	D	0.081	0.23632	.	.	0.507288889495	0.50368	0.32729181067152163	0.32642	0.622495851755	0.56515	0.475022166967	0.35373	T	0.059504	0.31133	T	-0.365973	0.03803	T	-0.305255	0.44166	T	0.023917089126357	0.01134	T	0.741926	0.36121	T	0.05351578	0.10138	0.064455956	0.12920	0.05351578	0.10137	0.064455956	0.12919	-5.763	0.44566	T	.	.	0.100	0.17189	B	.;.;.;.	.;.;.;.	2.946017	0.39182	20.9	0.99455227559694115	0.65479	0.14257	0.18307	N	AEFBCI	0.161353	0.28741	N	-0.289588131313683	0.29548	1.639653	-0.106364333660369	0.35133	2.028975	0.0221519290445821	0.13408	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.3	4.39	0.52211	2.856000	0.48040	3.269000	0.37146	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.1381:0.7895:0.0:0.0724	9.985	0.41008	84	0.96491	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1279.98	33	chr1	150949193	.	C	T	1279.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.534e+00;DP=815;ExcessHet=0.0000;FS=1.496;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=-7.460e-01;SOR=0.864	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1223	20	0	1	0
chr1	150994687	150994691	CTCTT	-	exonic	ANXA9	.	frameshift deletion	ANXA9:NM_003568:exon13:c.963_967del:p.S323Pfs*19,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1773.94	34	chr1	150994686	.	ACTCTT	A	1773.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.659;DP=803;ExcessHet=0.0000;FS=0.865;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.45;ReadPosRankSum=0.495;SOR=0.900	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1115	20	0	1	0
chr1	151045801	151045801	C	T	exonic	BNIPL	.	nonsynonymous SNV	BNIPL:NM_001159642:exon8:c.C610T:p.R204W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.832	P	0.000	D	1.000	D	2.485	M	1.76	T	-0.985	T	0.089	T	0.613	2.652	14.83	4.07	1.292	1.359	10.363	0.235	0.0744329020003	.	.	2.471e-05	9.614e-05	0	0	0	2.997e-05	0	0	1.94e-05	3	154602	rs764413830	1.437e-05	1.436e-05	1.497e-05	1.375e-05	8.961e-05	9.23e-06	7.84e-06	2.375e-05	1.258e-05	8.961e-05	0	0	0	3.744e-05	0	1.259e-05	3.312e-05	0	3.943e-05	3.938e-05	2.571e-05	5.379e-05	0.0001	1.716e-05	1.13e-05	4.733e-05	3.049e-05	0.0001	0	0	0	0	9.445e-05	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.832	0.59730	P	0.000001	0.62929	D	0.055024	0.999863	0.50061	D	2.725	0.79712	M	1.76	0.25996	T	-7.44	0.94872	D	0.799	0.79503	-0.9853	0.33760	T	0.089	0.34271	T	10	0.5268693	0.62959	D	0.074433	0.72040	D	0.235	0.53788	.	.	0.710593507571	0.70806	0.794128529416293	0.79365	1.02964464637	0.75386	0.520278811455	0.41666	T	0.358923	0.72540	T	-0.19219	0.21936	T	-0.234409	0.51343	T	0.984615743160248	0.75865	D	0.945705	0.79334	D	0.925225	0.93761	0.9356964	0.97483	0.925225	0.93761	0.9356964	0.97483	-11.343	0.81506	D	.	.	0.350	0.56586	A	.;.;.	.;.;.	4.554072	0.71695	25.7	0.99895876302571385	0.96895	0.85548	0.44692	D	AEFDBI	0.505257	0.53648	D	0.341550308258676	0.58294	4.000902	0.23361093530973	0.51722	3.352308	0.999992851264735	0.74766	0.421363	0.06395	0	0.547309	0.14657	0	0.536957	0.11973	0	0.613276	0.41899	0	.	.	4.99	4.07	0.46726	1.225000	0.32154	1.895000	0.29544	0.596000	0.33519	0.829000	0.30118	0.932000	0.28569	0.278000	0.23967	0.3576:0.6424:0.0:0.0	10.363	0.43191	120	0.95183	.;CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	622.98	35	chr1	151045801	.	C	T	622.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.46;DP=767;ExcessHet=0.0000;FS=0.958;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.81;MQRankSum=0.00;QD=9.58;ReadPosRankSum=0.722;SOR=0.933	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1322	20	0	1	0
chr1	151177011	151177011	A	G	exonic	VPS72	.	nonsynonymous SNV	VPS72:NM_001271087:exon6:c.T761C:p.V254A	.	.	414	1077	31	0	0	31	0.0141876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.0	B	0.0	B	0.010	N	1.000	N	-0.69	N	.	.	-0.951	T	0.010	T	0.034	-0.531	1.585	4.42	1.536	0.962	6.894	0.078	.	0.009	0.00678914	0.0057	0.0169	0.0025	0	0.0008	0.0054	0.0039	0.0087	0.0054721	846	154602	rs78427992	0.0060	0.0059	0.0060	0.0059	0.0191	0.0058	0.0058	0.0178	0.0174	0.0191	0.0034	0.0040	2.542e-05	0.0007	0.0138	0.0059	0.0066	0.0081	0.0079	0.0080	0.0082	0.0077	0.0161	0.0076	0.0074	0.0151	0.0147	0.0161	0	0.0056	0.0052	0	0.0004	0.0136	0.0053	0.0095	0.0102	0.793	0.03175	T	0.752	0.04772	T	0.0	0.02946	B	0.0	0.01387	B	0.009899	0.30155	N	0.360258	1	0.08975	N	-1.32	0.00691	N	.	.	.	0.49	0.03824	N	0.025	0.02964	-0.9514	0.40730	T	0.010	0.03673	T	9	0.0037549734	0.00070	T	.	.	.	0.078	0.22779	.	.	0.0401082797425	0.02173	.	.	0.587943224786	0.54355	0.419013440609	0.27701	T	0.04423	0.26752	T	-0.656704	0.00066	T	-0.701807	0.05727	T	0.000186556837697736	0.00001	T	0.174683	0.01682	T	0.017079594	0.00244	0.024969399	0.00528	0.017079594	0.00244	0.024969399	0.00528	-2.255	0.09559	T	.	.	0.059	0.01934	B	.;.	.;.	0.374732	0.07468	4.107	0.46410719542778284	0.03715	0.00333	0.01736	N	AEFDGBI	0.030784	0.03164	N	-1.16472721364999	0.05541	0.2529068	-1.04608233724713	0.08789	0.4338623	0.999872400141814	0.44625	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.41	4.42	0.52775	2.076000	0.41172	2.588000	0.33452	-0.753000	0.03565	0.357000	0.25817	0.353000	0.24482	0.009000	0.08673	0.2056:0.0:0.7944:0.0	6.894	0.23428	112	0.95438	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1358.98	36	chr1	151177011	.	A	G	1358.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.091e+00;DP=807;ExcessHet=0.0000;FS=1.579;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=-6.670e-01;SOR=0.919	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1348	20	0	1	0
chr1	151242225	151242225	G	C	exonic	PIP5K1A	.	nonsynonymous SNV	PIP5K1A:NM_001135636:exon11:c.G1346C:p.G449A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.098	B	0.075	B	0.274	U	1.000	D	2.015	M	1.82	T	-1.108	T	0.038	T	0.367	1.339	10.40	4.39	2.453	5.825	9.982	0.081	0.00562898346231	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1358672146	2.052e-06	2.052e-06	0	4.125e-06	2.236e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	2.236e-05	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	0.10588	T	0.718	0.05452	T	0.013	0.25584	B	0.011	0.28327	B	0.273720	0.15078	U	0.504336	1	0.81001	D	1.39	0.34934	L	1.82	0.30133	T	-0.27	0.11366	N	0.248	0.28616	-1.1076	0.03284	T	0.038	0.16376	T	10	0.17105553	0.31804	T	0.005629	0.14560	T	0.081	0.23632	0.208	0.12497	0.72112745763	0.71867	0.18776267043273245	0.18694	0.195110510202	0.21846	0.483822017908	0.36582	T	0.007	0.40145	T	-0.172736	0.24822	T	-0.403035	0.33030	T	0.273770064115524	0.23908	T	0.875412	0.61653	D	0.03540485	0.04159	0.06997836	0.14811	0.03540485	0.04159	0.06997836	0.14810	-2.673	0.08529	T	.	.	0.082	0.11989	B	.;.;.;.	.;.;.;.	3.173227	0.43041	21.7	0.93872280804592267	0.23884	0.96368	0.68797	D	AEFGBI	0.531783	0.55192	D	-0.00140177494393713	0.41791	2.506138	0.138534277408335	0.46537	2.898141	0.217572456814553	0.18316	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.39	4.39	0.52211	6.413000	0.73226	9.843000	0.81937	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.7981:0.2019	9.982	0.40992	102	0.95784	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1829.98	36	chr1	151242225	.	G	C	1829.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.329e+00;DP=960;ExcessHet=0.0000;FS=0.550;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.05;ReadPosRankSum=-1.184e+00;SOR=0.777	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1190	20	0	1	0
chr1	151289853	151289853	C	A	exonic	ZNF687	.	nonsynonymous SNV	ZNF687:NM_001304764:exon6:c.C2810A:p.P937H	Paget disease of bone 6, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	789841	not_provided|Paget_disease_of_bone_6	MedGen:C3661900|MONDO:MONDO:0014792,MedGen:C4085250,OMIM:616833	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.975	D	0.742	P	0.003	N	0.993	D	0.695	N	5.88	T	-0.436	T	0.002	T	0.234	1.713	11.69	2.15	0.301	2.128	14.254	0.075	0.0168101362587	.	.	0.0004	0	0.0013	0.0008	0	0.0005	0	0.0004	0.0001488	23	154602	rs148402804	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	3.097e-05	0.0003	0	0.0001	3.992e-05	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	9.618e-05	0	0.0002	0.0003	0.0002	9.414e-05	0	0.0003	0.0005	0.0004	0.002	0.72154	D	0.047	0.48855	D	0.898	0.49442	P	0.557	0.49454	P	0.003447	0.34930	N	0.000000	0.992963	0.41795	D	0.695	0.17993	N	5.49	0.00930	T	0.02	0.06739	N	0.294	0.38541	-0.4361	0.70860	T	0.002	0.00615	T	10	0.044634283	0.03444	T	0.01681	0.38239	T	0.123	0.34020	.	.	0.0934897674506	0.08844	0.4975312941938317	0.49674	0.710227036587	0.61673	0.454614341259	0.32575	T	0.021003	0.16432	T	-0.429244	0.01498	T	-0.5382	0.18474	T	0.0872432457205677	0.10887	T	0.582242	0.21111	T	0.15824525	0.35612	0.11077933	0.26714	0.15824525	0.35611	0.11077933	0.26714	-6.722	0.51976	T	.	.	0.098	0.23290	B	.;.	.;.	1.548221	0.19848	14.47	0.97185248371855315	0.32740	0.92871	0.56751	D	AEFDBCI	0.207642	0.33380	N	-0.429303228378819	0.24446	1.320078	-0.436306277361276	0.23940	1.308238	0.999447711207512	0.39736	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.16	2.15	0.26590	1.815000	0.38620	1.610000	0.27630	-0.273000	0.06669	0.780000	0.29473	0.958000	0.29226	0.949000	0.49496	0.0:0.5693:0.4307:0.0	14.254	0.65588	91	0.96221	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2177.98	37	chr1	151289853	.	C	A	2177.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.740e-01;DP=849;ExcessHet=0.0000;FS=1.330;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.34;ReadPosRankSum=0.023;SOR=0.583	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr1	151316420	151316420	G	C	exonic	PI4KB	.	nonsynonymous SNV	PI4KB:NM_001198774:exon2:c.C62G:p.P21R	.	.	435	1085	1	0	1	2	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.001	B	0.001	B	0.040	N	0.974	N	0	N	-0.26	T	-1.053	T	0.048	T	0.271	0.433	6.350	2.69	0.461	2.778	5.174	0.042	0.00822054158186	0.0025	0.00139776	0.0006	0.0071	0.0002	0	0	1.588e-05	0	0	0.0005369	83	154602	rs138899197	0.0002	0.0002	0.0002	0.0001	0.0063	0.0002	0.0001	0.0056	0.0053	0.0063	0.0003	0	0	0	0.0002	9.108e-07	0.0004	6.178e-05	0.0017	0.0017	0.0016	0.0017	0.0058	0.0015	0.0014	0.0052	0.0050	0.0058	0	0.0002	0	0	0	0	1.47e-05	0.0028	0	0.041	0.46910	D	0.427	0.13832	T	0.001	0.07471	B	0.001	0.04355	B	0.039622	0.24149	N	0.445406	0.974463	0.39107	D	1.245	0.31408	L	-0.26	0.67187	T	0.01	0.07590	N	0.332	0.50598	-1.0531	0.13547	T	0.048	0.20395	T	10	0.0055983365	0.00124	T	0.008221	0.21776	T	0.042	0.11227	.	.	0.382607109125	0.37878	0.30433151639222694	0.30346	0.446594921837	0.44532	0.445157051086	0.31282	T	0.123974	0.44870	T	-0.422489	0.01650	T	-0.376624	0.36116	T	0.0106167869188809	0.00148	T	0.882412	0.62800	D	0.04369393	0.06855	0.037043735	0.03275	0.04369393	0.06854	0.037043735	0.03275	-4.907	0.35814	T	.	.	0.081	0.09094	B	.;.;.;.;.	.;.;.;.;.	2.884595	0.38179	20.7	0.82130478145465557	0.14034	0.95834	0.66353	D	AEFDBI	0.234546	0.35729	N	-0.718993776172487	0.15489	0.7809895	-0.577714967987462	0.20075	1.079947	0.857419155618655	0.25160	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.53	2.69	0.30923	3.817000	0.55371	7.661000	0.64234	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.026000	0.12556	0.2237:0.0:0.6311:0.1452	5.174	0.14451	102	0.95784	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1758.98	40	chr1	151316420	.	G	C	1758.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.864e+00;DP=904;ExcessHet=0.0000;FS=1.395;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.99;MQRankSum=-8.550e-01;QD=12.84;ReadPosRankSum=-3.760e-01;SOR=0.556	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr1	151408482	151408482	A	G	exonic	POGZ	.	nonsynonymous SNV	POGZ:NM_145796:exon12:c.T1876C:p.S626P	White-Sutton syndrome, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	2207559	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.36	T	0.0	B	0.003	B	0.045	N	0.571	N	-0.345	N	5.85	T	-0.991	T	0.012	T	0.42	1.692	11.62	3.26	1.850	1.772	7.148	0.109	0.00272430835898	.	.	1.657e-05	0	8.651e-05	0	0	1.506e-05	0	0	1.29e-05	2	154602	rs763617685	1.803e-05	1.779e-05	1.518e-05	2.091e-05	3.627e-05	1.255e-05	1.066e-05	1.301e-05	1.111e-05	0	2.714e-05	0	0	0	0	1.987e-05	0	3.627e-05	1.315e-05	1.314e-05	1.285e-05	1.346e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.301	0.20381	T	0.194	0.28210	T	0.0	0.02946	B	0.002	0.08700	B	0.045185	0.23562	N	0.369814	0.710214	0.31181	N	-0.205	0.04094	N	5.82	0.32238	T	-0.36	0.17417	N	0.374	0.51048	-0.9905	0.32475	T	0.012	0.04558	T	10	0.04950154	0.04550	T	0.002724	0.05608	T	0.109	0.30843	0.191	0.10171	0.491561328709	0.48789	0.5274958808770265	0.52673	0.910079391451	0.71022	0.428018271923	0.28938	T	0.020894	0.16365	T	-0.226188	0.17155	T	-0.452621	0.27407	T	0.0722014821200751	0.08957	T	0.792121	0.43364	T	0.05940633	0.12068	0.09387279	0.22194	0.05940633	0.12068	0.09387279	0.22193	-3.491	0.16741	T	0.14844843224063575	0.17283	0.070	0.07318	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.777035	0.36468	20.3	0.98937438882391671	0.48864	0.44941	0.27429	N	AEFBI	0.061117	0.11662	N	-0.436688613050537	0.24192	1.304624	-0.235541369631629	0.30272	1.703065	0.0263396405864073	0.13706	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.42	3.26	0.36471	1.002000	0.29397	4.837000	0.45250	0.756000	0.94297	0.997000	0.40164	1.000000	0.68203	0.979000	0.57723	0.8807:0.0:0.1193:0.0	7.148	0.24770	194	0.92479	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	3202.98	41	chr1	151408482	.	A	G	3202.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.081;DP=1068;ExcessHet=0.0000;FS=1.717;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.97;ReadPosRankSum=-2.970e-01;SOR=0.823	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr1	151440966	151440966	G	A	exonic	POGZ	.	nonsynonymous SNV	POGZ:NM_001194937:exon3:c.C245T:p.T82I	White-Sutton syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.062	B	0.015	B	0.017	N	1.000	D	0	N	5.94	T	-0.771	T	0.202	T	0.363	2.807	15.35	5.06	2.612	4.300	15.973	0.036	0.0163096699852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.57480	D	0.145	0.53072	T	0.016	0.23277	B	0.007	0.17295	B	0.017236	0.27776	N	0.292176	0.784788	0.81001	D	0	0.06538	N	5.94	0.83241	T	-0.33	0.45404	N	0.146	0.14763	-0.7715	0.56775	T	0.202	0.55933	T	10	0.1542458	0.29098	T	0.01631	0.37504	T	0.036	0.09122	0.141	0.04462	0.652824027215	0.64993	0.3537238515941887	0.35286	0.786014294161	0.65511	0.607494592667	0.53961	T	0.022101	0.19446	T	0.0536047	0.58806	T	-0.160777	0.58282	T	0.393252100901635	0.28687	T	0.882912	0.63428	D	0.19493566	0.41263	0.11143506	0.26881	0.19493566	0.41263	0.11143506	0.26880	-4.121	0.32209	T	.	.	0.309	0.53709	B	.;.;.;.;.	.;.;.;.;.	2.921819	0.38794	20.8	0.99577040480172796	0.72742	0.89186	0.49500	D	AEFBI	0.506068	0.53695	D	-0.104357561212368	0.37201	2.161071	0.119948053786081	0.45572	2.817854	0.999953294937299	0.48110	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	4.358000	0.59217	10.007000	0.83074	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	15.973	0.79827	248	0.90287	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1115.98	34	chr1	151440966	.	G	A	1115.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.401e+00;DP=815;ExcessHet=0.0000;FS=0.685;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.15;ReadPosRankSum=-1.190e+00;SOR=0.725	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1179	20	0	1	0
chr1	151518550	151518550	C	T	exonic	CGN	.	nonsynonymous SNV	CGN:NM_020770:exon2:c.C31T:p.R11W,	.	.	437	1061	24	0	0	24	0.0111836	.	.	731726	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.895	P	0.006	N	1.000	N	1.79	L	0.76	T	-0.819	T	0.230	T	0.346	3.224	16.80	1.95	0.352	0.588	8.184	0.136	0.0478829997555	0.0018	0.000599042	0.0028	0.0002	0.0069	0.0001	0	0.0035	0.0067	0.0011	0.0024838	384	154602	rs144766457	0.0017	0.0017	0.0017	0.0018	0.0191	0.0017	0.0016	0.0162	0.0151	0.0005	0.0044	0.0298	7.58e-05	0	0.0191	0.0010	0.0040	0.0010	0.0020	0.0020	0.0022	0.0017	0.0031	0.0018	0.0017	0.0024	0.0022	0.0003	0	0.0031	0.0335	0	0	0.0136	0.0015	0.0057	0.0004	0.031	0.47320	D	0.005	0.72224	D	.	.	.	.	.	.	0.006353	0.32094	N	0.330224	0.999953	0.19072	N	.	.	.	0.76	0.66474	T	-2.57	0.55501	D	0.37	0.41162	-0.8191	0.53990	T	0.230	0.59595	T	10	0.0065971613	0.00149	T	0.047883	0.63125	D	0.136	0.36778	.	.	0.540243489925	0.53678	0.18238191413688404	0.18157	0.637029871856	0.57456	0.450696766376	0.32039	T	0.042694	0.26264	T	-0.366999	0.03748	T	-0.294254	0.45329	T	0.0707966587591974	0.08761	T	0.771723	0.40231	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.41708	B	.;.;.;.	.;.;.;.	3.995823	0.58848	24.0	0.99872361705083901	0.94989	0.76947	0.37782	D	AEFBI	0.343454	0.43926	N	0.130253672131267	0.47878	3.007467	0.0656810671519602	0.42836	2.598033	0.00726268339345058	0.11424	0.732398	0.92422	0	0.610034	0.51514	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	4.95	1.95	0.25130	0.370000	0.20166	1.017000	0.23376	-0.835000	0.02838	0.888000	0.31154	0.745000	0.26509	0.701000	0.34172	0.269:0.6555:0.0:0.0755	8.184	0.30491	412	0.82007	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1185.98	33	chr1	151518550	.	C	T	1185.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.225e+00;DP=824;ExcessHet=0.0000;FS=3.444;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.80;ReadPosRankSum=-8.100e-02;SOR=0.415	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1176	20	0	1	0
chr1	151612258	151612258	-	GGC	exonic	SNX27	.	nonframeshift insertion	SNX27:NM_001330723:exon1:c.57_58insGGC:p.G25_S26insG	.	.	383	1134	5	0	0	5	0.00219974	.	.	447186	Severe_myoclonic_epilepsy_in_infancy	MONDO:MONDO:0100135,MedGen:C0751122,OMIM:607208,Orphanet:33069	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	0.000599042	0.0048	0	0.0217	0	0.0167	0.0080	0	0.0025	0.0002305	6	26028	rs567208173	0.0042	0.0039	0.0042	0.0042	0.0043	0.0041	0.0041	0.0042	0.0042	0.0005	0.0010	0.0032	0	0.0147	0.0012	0.0043	0.0034	0.0012	0.0043	0.0043	0.0039	0.0047	0.0058	0.0040	0.0039	0.0053	0.0051	0.0010	0	0.0009	0.0026	0.0004	0.0169	0	0.0058	0.0009	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1327.94	35	chr1	151612258	.	T	TGGC	1327.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.670e-01;DP=777;ExcessHet=0.0000;FS=1.996;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.19;ReadPosRankSum=-1.679e+00;SOR=0.486	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1113	20	0	1	0
chr1	151612460	151612460	G	C	exonic	SNX27	.	nonsynonymous SNV	SNX27:NM_001330723:exon1:c.G259C:p.G87R	.	YES	404	1117	1	0	0	1	0.000447427	.	.	1450596	Severe_myoclonic_epilepsy_in_infancy	MONDO:MONDO:0100135,MedGen:C0751122,OMIM:607208,Orphanet:33069	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	0.679	P	0.333	B	0.000	N	1.000	D	2.805	M	1.02	T	-0.937	T	0.100	T	0.472	3.975	20.3	3.77	1.795	8.255	13.416	0.248	0.70026490047	.	.	2.705e-05	0	0	0	0	0	0	0.0004	1.29e-05	2	154602	rs750944911	8.647e-06	1.163e-05	4.6e-06	1.291e-05	8.469e-05	4.64e-06	3.39e-06	3.273e-05	2.095e-05	0	0	0	0	0	0	4.891e-06	1.92e-05	8.469e-05	6.575e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.278	0.17410	T	0.294	0.20745	T	0.679	0.41373	P	0.333	0.42166	B	0.000029	0.55875	N	0.071142	1	0.81001	D	2.46	0.71463	M	1.02	0.40749	T	-2.86	0.60188	D	0.531	0.56403	-0.9366	0.43149	T	0.100	0.37239	T	10	0.72631824	0.73997	D	0.700265	0.97546	D	0.248	0.55615	0.829	0.93915	0.102598925029	0.09809	0.7924830973634446	0.79201	1.72089044569	0.90581	0.956874251366	0.99872	D	0.267037	0.63904	T	-0.0438438	0.45377	T	-0.300755	0.44646	T	0.978244483470917	0.72232	D	0.965203	0.87805	D	0.6621882	0.76016	0.56241	0.74678	0.6621882	0.76017	0.56241	0.74679	-8.63	0.65287	D	.	.	0.647	0.73103	P	.;.	.;.	5.512518	0.91698	32	0.99661123100967308	0.77947	0.81267	0.40707	D	AEFDGBHCI	0.882633	0.81090	D	0.424984563218663	0.62801	4.501994	0.41864796540809	0.62726	4.493076	1.0	0.98316	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	3.77	3.77	0.42499	6.739000	0.74629	10.948000	0.84382	0.576000	0.29215	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	13.416	0.60414	283	0.88803	.;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1336.98	35	chr1	151612460	.	G	C	1336.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.230e-01;DP=847;ExcessHet=0.0000;FS=0.654;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.98;ReadPosRankSum=0.559;SOR=0.582	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1113	20	0	1	0
chr1	151767275	151767275	C	A	exonic	OAZ3	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.004	B	0.004	B	0.403	N	0.990	N	1.735	L	1.47	T	-0.993	T	0.022	T	0.132	0.954	8.892	-0.291	-0.194	-0.604	3.896	0.065	0.00665639150986	.	.	.	.	.	.	.	.	.	.	.	.	.	rs148840917	9.579e-06	9.577e-06	9.53e-06	9.628e-06	0.0002	5.56e-06	4.35e-06	5.31e-06	3.88e-06	0	0	0	0	0	0.0002	9.894e-06	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.269	0.16091	T	0.149	0.32568	T	.	.	.	.	.	.	0.402874	0.13101	N	0.709498	0.999983	0.24188	N	.	.	.	1.39	0.34253	T	0.16	0.05217	N	0.334	0.37509	-0.9925	0.31959	T	0.022	0.09375	T	10	0.06799665	0.09555	T	0.006656	0.17557	T	0.065	0.18881	.	.	0.0884992946249	0.08302	0.22398453975536528	0.22313	0.138873224339	0.15659	0.289230167866	0.08811	T	0.068147	0.47662	T	-0.286887	0.09951	T	-0.64987	0.08963	T	0.0467898026108742	0.04928	T	0.562944	0.20238	T	0.03296765	0.03424	0.044831026	0.05896	0.03296765	0.03423	0.044831026	0.05896	-2.043	0.03622	T	.	.	0.096	0.23290	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.087610	0.04920	1.497	0.85504596175942049	0.15934	0.01901	0.05828	N	AEFDBI	0.068501	0.13515	N	-0.831471756183929	0.12510	0.6102709	-0.871554336937907	0.12770	0.6588111	0.757900824153104	0.23464	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.43	-0.291	0.12207	-0.581000	0.05913	-1.818000	0.04670	-0.189000	0.09497	0.000000	0.06391	0.000000	0.08366	0.140000	0.19946	0.4681:0.3257:0.1262:0.08	3.896	0.08644	296	0.88164	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	891.98	33	chr1	151767275	.	C	A	891.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.453;DP=791;ExcessHet=0.0000;FS=0.862;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=-1.484e+00;SOR=0.846	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1433	20	0	1	0
chr1	151776184	151776184	C	T	exonic	TDRKH	.	nonsynonymous SNV	TDRKH:NM_001083963:exon8:c.G1129A:p.G377S	.	.	.	.	.	.	.	.	.	.	.	3486066	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.39	T	0.996	D	0.699	P	0.000	D	1.000	D	0.72	N	2.88	T	-0.948	T	0.020	T	0.271	3.149	16.53	5.38	2.806	5.281	17.858	0.097	0.00990881546819	0.0002	.	0.0001	0.0008	0	0	0	6.001e-05	0.0011	0	9.06e-05	14	154602	rs201135766	3.899e-05	3.899e-05	4.356e-05	3.438e-05	0.0005	3.047e-05	2.783e-05	0.0003	0.0003	0.0005	2.236e-05	0	0	0	0.0002	2.428e-05	0.0001	2.319e-05	0.0001	0.0001	0.0002	5.373e-05	0.0004	7.576e-05	6.281e-05	0.0002	0.0002	0.0004	0	0	0	0	0	0.0034	2.941e-05	0	0	0.234	0.27544	T	0.343	0.20877	T	0.469	0.68779	P	0.06	0.54128	B	0.000002	0.62929	D	0.100133	0.999998	0.58761	D	1.33	0.33268	L	2.88	0.10291	T	-1.78	0.45769	N	0.293	0.37197	-0.9476	0.41380	T	0.020	0.08266	T	10	0.123211235	0.23386	T	0.009909	0.25811	T	0.097	0.27909	.	.	0.658336924587	0.65547	0.3622269283049374	0.36136	0.691143918717	0.60573	0.643649458885	0.59083	T	0.00593	0.05373	T	-0.441438	0.01268	T	-0.499608	0.22387	T	0.071703519141677	0.08888	T	0.909609	0.68343	D	0.37095296	0.58656	0.28440416	0.54439	0.37095296	0.58656	0.28440416	0.54438	-9.641	0.71734	D	0.4780901771444297	0.55726	0.357	0.57720	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.285195	0.65313	24.8	0.995778193393559	0.72802	0.87749	0.47394	D	AEFBHCI	0.597412	0.59120	D	0.31103530381575	0.56714	3.836635	0.404768836178062	0.61861	4.392307	0.999999942774517	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.38	5.38	0.77279	5.465000	0.66456	7.738000	0.67953	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.759000	0.36109	0.0:1.0:0.0:0.0	17.858	0.88686	286	0.88678	Tudor domain|Tudor domain|Tudor domain;Tudor domain|Tudor domain|Tudor domain;.;Tudor domain|Tudor domain|Tudor domain;Tudor domain|Tudor domain|Tudor domain;Tudor domain|Tudor domain|Tudor domain;Tudor domain|Tudor domain|Tudor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1308.98	37	chr1	151776184	.	C	T	1308.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.404e+00;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=0.703;SOR=0.651	GT:AD:DP:GQ:PL	0/1:45,54:99:99:1323,0,1177	20	0	1	0
chr1	151778966	151778966	C	T	exonic	TDRKH	.	nonsynonymous SNV	TDRKH:NM_001083963:exon6:c.G602A:p.R201Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	1.0	D	0.994	D	0.058	N	1.000	D	0.895	L	0.51	T	-1.001	T	0.148	T	0.776	4.695	26.0	5.2	2.694	3.253	15.579	0.114	0.00616694283967	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913794886	1.163e-05	1.163e-05	1.361e-05	9.626e-06	0.0002	7.08e-06	5.79e-06	1.78e-05	8.93e-06	0	6.711e-05	0.0002	0	0	0.0002	6.295e-06	1.656e-05	0	1.314e-05	1.313e-05	2.569e-05	0	6.545e-05	2.18e-06	8.2e-07	.	.	0	0	6.545e-05	0	0	0	0	1.47e-05	0	0	0.306	0.14546	T	0.425	0.15109	T	0.499	0.46254	P	0.029	0.26717	B	0.057762	0.22454	N	0.431984	0.99997	0.81001	D	1.5	0.37844	L	0.51	0.55439	T	-1.69	0.42763	N	0.36	0.47022	-1.0014	0.29516	T	0.148	0.47344	T	10	0.20865807	0.37203	T	0.006167	0.16170	T	0.114	0.32008	0.291	0.25241	0.643776053401	0.64083	0.5216002669156984	0.52083	0.367955838784	0.38357	0.641363322735	0.58758	T	0.011059	0.09913	T	-0.0464401	0.44986	T	-0.107513	0.62810	T	0.665857434272766	0.39153	D	0.837416	0.51943	T	0.1623931	0.36313	0.09425479	0.22303	0.1623931	0.36312	0.09425479	0.22302	-10.352	0.75992	D	0.15881065335747474	0.19268	0.146	0.44656	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.847004	0.55700	23.6	0.99950842285435848	0.99944	0.94288	0.60690	D	AEFBI	0.471118	0.51680	N	0.196032386311166	0.51008	3.285642	0.306228578585037	0.55906	3.75339	0.999999992483254	0.74766	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.2	5.2	0.71720	3.388000	0.52247	6.037000	0.52980	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	15.579	0.76161	300	0.87974	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1902.98	39	chr1	151778966	.	C	T	1902.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=966;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.60;ReadPosRankSum=-5.290e-01;SOR=0.725	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr1	151802094	151802094	G	A	exonic	LINGO4	.	nonsynonymous SNV	LINGO4:NM_001004432:exon2:c.C611T:p.P204L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.987	D	0.65	P	0.000	D	1.000	D	1.92	M	0.2	T	-0.890	T	0.182	T	0.446	2.025	12.73	5.13	2.681	1.723	16.123	0.173	0.0224046673222	.	.	2.528e-05	0.0001	0	0	0	1.537e-05	0	6.066e-05	1.94e-05	3	154602	rs553637652	2.942e-05	2.941e-05	3.131e-05	2.75e-05	8.961e-05	2.217e-05	1.97e-05	2.374e-05	1.503e-05	8.961e-05	4.472e-05	0	2.519e-05	0.0001	0	2.518e-05	1.656e-05	2.319e-05	3.285e-05	3.283e-05	2.569e-05	4.035e-05	7.24e-05	1.261e-05	7.98e-06	1.92e-05	1.032e-05	7.24e-05	0	0	0	0	0	0	2.94e-05	0	0	0.14	0.25664	T	0.466	0.12386	T	0.987	0.61912	D	0.65	0.52463	P	0.000200	0.48115	D	0.000000	0.99999	0.58761	D	2.045	0.56016	M	0.2	0.60111	T	-2.06	0.47175	N	0.312	0.35194	-0.8901	0.48925	T	0.182	0.53011	T	10	0.4020497	0.55635	T	0.022405	0.45296	T	0.173	0.43840	.	.	0.748002741978	0.74573	0.5524737143314027	0.55173	0.510397358846	0.49155	0.589992880821	0.51493	T	0.282249	0.65498	T	-0.253006	0.13733	T	-0.321767	0.42381	T	0.177266955375671	0.19061	T	0.69903	0.30897	T	0.08015464	0.18352	0.11658176	0.28145	0.08015464	0.18352	0.11658176	0.28144	-9.15	0.68657	D	.	.	0.308	0.53625	B	.	.	3.569993	0.50272	22.9	0.99624906037892558	0.75655	0.88424	0.48345	D	AEFDBI	0.540651	0.55713	D	0.31738882381548	0.57040	3.870061	0.297240762999272	0.55377	3.700897	0.988167971168426	0.31434	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.13	5.13	0.69729	1.970000	0.40144	7.340000	0.58244	0.676000	0.76740	0.985000	0.35982	1.000000	0.68203	0.008000	0.08271	0.0:0.0:1.0:0.0	16.123	0.81185	531	0.73574	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1377.98	34	chr1	151802094	.	G	A	1377.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.762;DP=793;ExcessHet=0.0000;FS=2.876;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.84;ReadPosRankSum=-2.900e-01;SOR=0.727	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1104	20	0	1	0
chr1	151831737	151831737	G	A	exonic	RORC	.	stopgain	RORC:NM_005060:exon1:c.C28T:p.R10X,	Immunodeficiency 42, Autosomal recessive	.	349	1170	3	0	0	3	0.00128041	.	.	447134	RORC-related_disorder|Autosomal_recessive_mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_RORgamma_receptor_deficiency	.|MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622,Orphanet:477857	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.96	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	5.680	36	3.44	2.295	1.082	8.675	.	.	0.0025	0.00119808	0.0025	0.0012	0.0008	0	0.0012	0.0038	0.0011	0.0013	0.0024579	380	154602	rs17582155	0.0028	0.0028	0.0029	0.0027	0.0034	0.0027	0.0027	0.0033	0.0032	0.0004	0.0005	0.0003	0	0.0011	0.0012	0.0034	0.0022	0.0011	0.0016	0.0016	0.0019	0.0013	0.0027	0.0015	0.0014	0.0024	0.0022	0.0009	0.0077	0.0003	0.0003	0	0.0009	0	0.0027	0.0009	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.857	0.85343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302311	0.83154	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.569524	0.97731	38	0.99757197716137491	0.84772	0.50561	0.28691	D	AEFDGBHCI	0.328405	0.42908	N	0.62220236656758	0.74582	6.156992	0.439183696413607	0.64027	4.648548	0.999999999863192	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	3.44	0.38486	1.117000	0.30848	3.415000	0.38214	0.604000	0.46097	0.965000	0.33920	1.000000	0.68203	0.875000	0.41745	0.0:0.0:0.7549:0.2451	8.675	0.33332	584	0.69381	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1164.98	33	chr1	151831737	.	G	A	1164.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.300e-02;DP=803;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-2.240e+00;SOR=0.730	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1372	20	0	1	0
chr1	151851098	151851098	G	A	exonic	THEM5	.	nonsynonymous SNV	THEM5:NM_182578:exon3:c.C419T:p.S140L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.996	D	0.692	P	0.000	D	0.634	N	1.85	L	2.09	T	-1.088	T	0.036	T	0.501	2.241	13.45	4.99	1.478	3.290	12.997	0.121	0.0147365966189	.	.	1.65e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs200369753	1.3e-05	1.3e-05	1.089e-05	1.513e-05	8.115e-05	8.31e-06	6.7e-06	3.765e-05	2.662e-05	2.987e-05	0	0	2.519e-05	1.872e-05	0	5.396e-06	4.967e-05	8.115e-05	6.566e-06	6.562e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.313	0.13879	T	0.152	0.32249	T	0.996	0.68779	D	0.692	0.53862	P	0.000002	0.62929	D	0.060066	0.63433	0.30671	N	2.485	0.72352	M	2.09	0.20122	T	-1.09	0.28290	N	0.698	0.70263	-1.0877	0.05925	T	0.036	0.15465	T	10	0.6055141	0.67152	D	0.014737	0.35052	T	0.139	0.37390	0.318	0.29581	0.37262878642	0.36876	0.3398375260303536	0.33896	0.378730719423	0.39278	0.474958658218	0.35364	T	0.003366	0.02768	T	-0.181744	0.23478	T	-0.401985	0.33153	T	0.954387187957764	0.64252	D	0.844815	0.52285	T	0.39320245	0.60259	0.124181315	0.29936	0.39320245	0.60259	0.124181315	0.29935	-6.366	0.49244	T	.	.	0.346	0.56317	A	.	.	3.641685	0.51634	23.1	0.99698970098183159	0.80453	0.73129	0.35775	D	AEFDGBI	0.168903	0.29570	N	0.235913486812584	0.52945	3.46588	0.221393259659165	0.51035	3.289717	0.999996792003761	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.59522	0.37078	0	.	.	5.91	4.99	0.65942	3.235000	0.51027	8.345000	0.77002	0.648000	0.52827	0.997000	0.40164	1.000000	0.68203	0.260000	0.23518	0.0:0.162:0.838:0.0	12.997	0.58056	577	0.69927	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1269.98	35	chr1	151851098	.	G	A	1269.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.89;DP=795;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=-6.380e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	20	0	1	0
chr1	151909363	151909363	C	G	exonic	THEM4	.	nonsynonymous SNV	THEM4:NM_053055:exon1:c.G96C:p.E32D,	.	.	418	1096	8	0	0	8	0.00363636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.0	B	0.0	B	0.960	U	1.000	N	0.69	N	2.44	T	-0.949	T	0.009	T	0.106	0.328	5.777	-1.75	-0.406	-0.633	0.521	0.015	0.0030380341247	.	0.000199681	0.0022	0	0	0	0	0.0003	0	0.0035	0.0002199	34	154602	rs552104788	0.0003	0.0003	0.0002	0.0004	0.0034	0.0003	0.0002	0.0030	0.0029	7.08e-05	3.035e-05	0	0	0	0.0021	7.211e-05	0.0005	0.0034	0.0002	0.0002	0.0002	0.0002	0.0023	0.0001	0.0001	0.0013	0.0010	0	0	0.0004	0	0	0	0.0102	0.0001	0.0005	0.0023	0.614	0.43708	T	0.56	0.33000	T	0.0	0.02946	B	0.0	0.01387	B	0.960290	0.07713	U	1.046590	1	0.08975	N	0	0.06538	N	2.44	0.23688	T	-0.45	0.19085	N	0.049	0.02272	-0.9493	0.41092	T	0.009	0.03315	T	10	0.0040884614	0.00080	T	0.003038	0.06547	T	0.015	0.02232	0.082	0.00727	0.0138822411134	0.00435	0.14839008482213595	0.14761	0.069198310528	0.07746	0.58636534214	0.50982	T	0.259212	0.63046	T	-0.628623	0.00098	T	-0.677539	0.07135	T	0.0148750423929012	0.00315	T	0.164984	0.01519	T	0.047714602	0.08201	0.043341335	0.05370	0.047714602	0.08201	0.043341335	0.05369	-3.923	0.22647	T	.	.	0.114	0.33981	B	.;.	.;.	0.425172	0.07959	4.668	0.67805792291602818	0.08465	0.00018	0.00208	N	ALL	0.027241	0.02191	N	-1.43446163497796	0.02341	0.1032949	-1.50299055477658	0.02321	0.1065657	0.999999999999707	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	2.69	-1.75	0.07598	-0.623000	0.05643	-0.391000	0.09475	-0.304000	0.06167	0.000000	0.06391	0.000000	0.08366	0.107000	0.18608	0.1964:0.3568:0.1927:0.254	0.521	0.00572	575	0.70088	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	357.98	33	chr1	151909363	.	C	G	357.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.500e-01;DP=771;ExcessHet=0.0000;FS=1.053;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.07;ReadPosRankSum=-9.600e-02;SOR=0.853	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1045	20	0	1	0
chr1	152107536	152107536	C	G	exonic	TCHH	.	nonsynonymous SNV	TCHH:NM_007113:exon3:c.G5681C:p.R1894T,	.	.	412	1107	3	0	0	3	0.00135318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.791	P	0.351	B	.	.	1.000	N	1.67	L	2.24	T	-1.028	T	0.018	T	0.274	0.273	5.475	1.65	0.916	0.055	5.804	0.020	0.00452750398386	8.1e-05	0.000199681	0.0001	0	0.0002	0	0	0.0002	0	0.0002	0.0001488	23	154602	rs146665414	8.209e-05	8.209e-05	7.35e-05	9.075e-05	0.0009	7.002e-05	6.552e-05	0.0003	0.0002	0	0.0001	0.0023	0	0	0.0009	1.799e-05	6.623e-05	0.0003	8.534e-05	8.53e-05	0.0001	6.712e-05	0.0002	4.953e-05	3.959e-05	1.171e-05	6.25e-06	2.405e-05	0	0	0.0020	0	0	0	4.41e-05	0.0005	0.0002	0.033	0.44358	D	0.01	0.65728	D	0.791	0.44643	P	0.351	0.42849	B	.	.	.	.	1	0.08975	N	1.895	0.50365	L	2.24	0.17923	T	-1.86	0.43524	N	0.258	0.29197	-1.0277	0.21200	T	0.018	0.07470	T	9	0.009339511	0.00211	T	0.004528	0.11157	T	0.020	0.03691	.	.	0.466991082792	0.46324	0.013653457371060496	0.01323	0.53078089531	0.50606	0.355094134808	0.18670	T	0.001787	0.01205	T	-0.417397	0.01777	T	-0.563038	0.16093	T	0.0453711178041521	0.04670	T	0.416558	0.10945	T	0.08863254	0.20681	0.14344089	0.34089	0.08863254	0.20681	0.14344089	0.34088	-6.358	0.49180	T	.	.	0.352	0.59882	A	.;.	.;.	1.711868	0.21796	15.35	0.83754930894343005	0.14901	0.09195	0.15000	N	AEFDBCI	0.086672	0.17573	N	-0.439772083674315	0.24088	1.298198	-0.570550270228043	0.20262	1.090872	0.999993239064772	0.74766	0.455138	0.09556	0	0.563428	0.19063	0	0.503968	0.08637	0	0.56751	0.32155	0	.	.	4.7	1.65	0.23015	-0.060000	0.11669	.	.	-0.233000	0.07663	0.000000	0.06391	0.001000	0.17328	0.010000	0.09038	0.1711:0.6737:0.0:0.1552	5.804	0.17695	480	0.77422	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	3772.98	166	chr1	152107536	.	C	G	3772.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.790e-01;DP=3435;ExcessHet=0.0000;FS=3.116;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=-3.080e-01;SOR=0.532	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:183,0:183:99:.:.:0,120,1800	20	0	1	0
chr1	152108746	152108746	C	T	exonic	TCHH	.	nonsynonymous SNV	TCHH:NM_007113:exon3:c.G4471A:p.E1491K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.053	B	0.031	B	.	.	1.000	N	1.545	L	3.28	T	-0.903	T	0.005	T	0.17	1.217	9.940	2.36	0.596	1.198	4.605	0.014	0.00292017188455	.	.	4.144e-05	0	8.648e-05	0	0	5.999e-05	0	0	3.23e-05	5	154602	rs767349778	5.473e-06	5.473e-06	6.807e-06	4.126e-06	4.477e-05	2.35e-06	1.7e-06	7.42e-06	2.78e-06	0	4.477e-05	0	2.521e-05	0	0	4.497e-06	0	0	6.597e-06	6.581e-06	0	1.351e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.021	0.49117	D	0.023	0.57104	D	0.053	0.22573	B	0.031	0.21939	B	.	.	.	.	1	0.08975	N	2.1	0.58353	M	3.28	0.06523	T	-1.22	0.30964	N	0.222	0.24883	-0.9032	0.47650	T	0.005	0.01615	T	9	0.062284082	0.07939	T	0.00292	0.06192	T	0.014	0.01968	0.286	0.24440	0.363944505237	0.36005	0.03981531059755741	0.03927	0.298544427098	0.32233	0.360896945	0.19516	T	0.001832	0.01251	T	-0.38871	0.02742	T	-0.620284	0.11163	T	0.0513050250949089	0.05727	T	0.632437	0.24680	T	0.11518771	0.27184	0.15396011	0.36155	0.11518771	0.27183	0.15396011	0.36154	-8.108	0.61805	D	.	.	0.500	0.64577	A	.;.	.;.	1.878279	0.23857	16.18	0.85660308862566981	0.16032	0.10664	0.16106	N	AEFDBCI	0.079074	0.15964	N	-0.970863623799702	0.09230	0.4359834	-1.01241045216558	0.09511	0.4736541	0.999792411315335	0.43153	0.764865	0.99124	0	0.627178	0.54094	0	0.731555	0.93304	0	0.56751	0.32155	0	.	.	3.28	2.36	0.28258	-0.087000	0.11181	.	.	-0.287000	0.06331	0.001000	0.13787	0.000000	0.08366	0.007000	0.07825	0.0:0.6424:0.2274:0.1301	4.605	0.11761	478	0.77585	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	3402.98	166	chr1	152108746	.	C	T	3402.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=3398;ExcessHet=0.0000;FS=7.335;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.83;MQRankSum=1.67;QD=12.33;ReadPosRankSum=0.952;SOR=0.591	GT:AD:DP:GQ:PL	0/0:183,0:183:99:0,120,1800	20	0	1	0
chr1	152109703	152109703	C	G	exonic	TCHH	.	nonsynonymous SNV	TCHH:NM_007113:exon3:c.G3514C:p.E1172Q,	.	.	417	1100	4	0	1	5	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.999	D	0.931	D	.	.	1.000	N	0.975	L	3.2	T	-1.006	T	0.018	T	0.247	1.883	12.25	4.07	1.794	-0.140	13.705	0.096	0.00178137424608	8.1e-05	0.000599042	0.0001	0	0	0	0	0	0	0.0008	0.0001164	18	154602	rs373657816	4.664e-05	4.654e-05	3.549e-05	5.791e-05	0.0007	3.738e-05	3.421e-05	0.0005	0.0005	0	0	0	0	0	0.0003	3.604e-06	6.656e-05	0.0007	0.0001	0.0001	5.309e-05	0.0002	0.0022	6.201e-05	5.034e-05	0.0012	0.0009	0	0	6.721e-05	0	0	0	0	6e-05	0	0.0022	0.0	0.91255	D	0.28	0.21678	T	0.999	0.77913	D	0.931	0.66596	D	.	.	.	.	0.99978	0.20372	N	2.08	0.57402	M	3.2	0.07236	T	-0.84	0.22944	N	0.247	0.27910	-1.0056	0.28277	T	0.018	0.07376	T	9	0.017002046	0.00361	T	0.001781	0.03037	T	0.096	0.27654	.	.	0.464784125046	0.46103	0.014560555411158608	0.01413	0.263074763425	0.28864	0.314819097519	0.12636	T	0.001585	0.01021	T	-0.474329	0.00799	T	-0.532105	0.19077	T	0.126530603676838	0.15058	T	0.269973	0.04523	T	0.1764113	0.38553	0.15572976	0.36491	0.1764113	0.38553	0.15572976	0.36490	-7.729	0.59209	D	.	.	0.208	0.43489	B	.;.	.;.	1.076798	0.14596	11.16	0.74798980178628482	0.10831	0.01967	0.05961	N	AEFDBHCI	0.070905	0.14092	N	-0.263294981098295	0.30575	1.706192	-0.40407626496765	0.24876	1.364798	0.999998941768767	0.74766	0.582742	0.33608	0	0.563428	0.19063	0	0.61531	0.40942	0	0.554799	0.18163	0	.	.	4.07	4.07	0.46726	0.678000	0.24956	.	.	0.423000	0.20817	0.019000	0.19563	0.000000	0.08366	0.216000	0.22352	0.0:1.0:0.0:0.0	13.705	0.62113	479	0.77495	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2544.98	66	chr1	152109703	.	C	G	2544.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.808;DP=1788;ExcessHet=0.0000;FS=0.523;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=-1.578e+00;SOR=0.632	GT:AD:DP:GQ:PL	0/0:97,0:97:99:0,120,1800	20	0	1	0
chr1	152110285	152110285	G	A	exonic	TCHH	.	nonsynonymous SNV	TCHH:NM_007113:exon3:c.C2932T:p.P978S,	.	.	395	1124	3	0	0	3	0.00133274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.002	B	0.004	B	.	.	1.000	N	0	N	3.32	T	-0.911	T	0.003	T	0.157	0.527	6.853	0.644	0.123	-0.049	5.584	0.009	0.00121969976179	0.0006	0.00159744	0.0009	0	0.0007	0.0001	0	0.0012	0.0033	0.0013	0.0008279	128	154602	rs144030050	0.0007	0.0007	0.0007	0.0007	0.0030	0.0007	0.0006	0.0019	0.0015	5.998e-05	0.0010	0.0113	0	0	0.0030	0.0004	0.0017	0.0008	0.0009	0.0009	0.0008	0.0009	0.0023	0.0007	0.0007	0.0017	0.0015	4.946e-05	0	0.0023	0.0133	0.0002	0	0.0035	0.0005	0.0024	0.0015	0.02	0.49613	D	0.207	0.26969	T	0.002	0.09854	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.32	0.06214	T	0.34	0.03824	N	0.124	0.11626	-0.9110	0.46732	T	0.003	0.00832	T	9	0.003262043	0.00056	T	0.00122	0.01608	T	0.009	0.00846	.	.	0.279370189704	0.27548	0.01310820703252027	0.01268	0.26868674241	0.29385	0.229409307241	0.01925	T	0.002742	0.02136	T	-0.584812	0.00180	T	-0.673417	0.07391	T	0.00821694931801731	0.00098	T	0.229177	0.03066	T	0.031220032	0.02922	0.05217873	0.08547	0.031220032	0.02922	0.05217873	0.08546	-4.894	0.35667	T	.	.	0.318	0.54324	B	.;.	.;.	0.675945	0.10444	7.164	0.68378226156136535	0.08640	0.06123	0.12101	N	AEFBHCI	0.053112	0.09541	N	-1.20434263500344	0.04935	0.2238635	-1.22444315082256	0.05519	0.2632011	0.998290542279174	0.36710	0.582742	0.33608	0	0.563428	0.19063	0	0.61531	0.40942	0	0.603991	0.37454	0	.	.	2.83	0.644	0.16948	-0.623000	0.05643	.	.	0.543000	0.25316	0.000000	0.06391	0.000000	0.08366	0.127000	0.19450	0.1325:0.1993:0.6682:0.0	5.584	0.16548	479	0.77495	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	2086.98	66	chr1	152110285	.	G	A	2086.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.470e-01;DP=1705;ExcessHet=0.0000;FS=2.657;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=1.63;SOR=0.502	GT:AD:DP:GQ:PL	0/0:97,0:97:99:0,120,1800	20	0	1	0
chr1	152111160	152111160	G	C	exonic	TCHH	.	nonsynonymous SNV	TCHH:NM_007113:exon3:c.C2057G:p.A686G,	.	.	.	.	.	.	.	.	.	.	.	706693	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.36	T	0.982	D	0.679	P	.	.	1.000	N	0.695	N	3.38	T	-0.906	T	0.007	T	0.032	1.855	12.16	0.34	0.212	0.337	7.785	0.037	.	0.0042	0.00459265	0.0013	0.0153	0.0006	0	0	0	0.0022	6.056e-05	0.0012872	199	154602	rs114824000	0.0005	0.0005	0.0006	0.0004	0.0186	0.0005	0.0005	0.0174	0.0169	0.0186	0.0009	0	0	0	0.0007	1.259e-05	0.0011	2.319e-05	0.0041	0.0041	0.0041	0.0041	0.0143	0.0038	0.0037	0.0134	0.0130	0.0143	0	0.0018	0	0	0	0	0	0.0014	0	0.0	0.91255	D	0.166	0.30828	T	0.982	0.60036	D	0.679	0.53442	P	.	.	.	.	1	0.08975	N	0.55	0.14455	N	3.38	0.05778	T	-0.92	0.24676	N	0.219	0.24510	-0.9061	0.47320	T	0.007	0.02439	T	9	0.0060623884	0.00136	T	.	.	.	0.037	0.09474	.	.	0.552822141497	0.54940	0.011036396210618938	0.01064	0.267143712673	0.29252	0.432920783758	0.29608	T	0.002044	0.01452	T	-0.671417	0.00054	T	-0.724896	0.04563	T	0.0375677139865913	0.03255	T	0.19558	0.02146	T	0.21041337	0.43336	0.23605268	0.48865	0.18964507	0.40515	0.25175208	0.50791	-3.484	0.16209	T	.	.	0.339	0.55835	B	.;.	.;.	2.390162	0.30693	18.52	0.87492978084751705	0.17266	0.16849	0.19576	N	AEFDBHCI	0.085550	0.17343	N	-0.490868132728884	0.22379	1.194585	-0.641786674535664	0.18424	0.984165	0.999898209343745	0.45129	0.582742	0.33608	0	0.541168	0.11318	0	0.378051	0.06126	2	0.603991	0.37454	0	.	.	4.3	0.34	0.15224	2.568000	0.45628	.	.	0.491000	0.22372	0.346000	0.25726	0.049000	0.21787	0.591000	0.31164	0.391:0.0:0.609:0.0	7.785	0.28251	480	0.77422	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	2556.98	66	chr1	152111160	.	G	C	2556.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.109e+00;DP=1426;ExcessHet=0.0000;FS=3.437;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=-7.930e-01;SOR=0.476	GT:AD:DP:GQ:PL	0/0:97,0:97:99:0,120,1800	20	0	1	0
chr1	152112079	152112079	C	T	exonic	TCHH	.	nonsynonymous SNV	TCHH:NM_007113:exon3:c.G1138A:p.E380K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.663	P	0.067	B	.	.	1.000	N	0	N	3.36	T	-0.984	T	0.002	T	0.307	1.395	10.60	3.47	1.820	0.303	6.619	0.032	0.0024857678813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.025	0.56192	D	0.663	0.40973	P	0.067	0.27542	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	3.36	0.05918	T	-0.9	0.24244	N	0.289	0.32701	-0.9836	0.34164	T	0.002	0.00769	T	9	0.108606875	0.20226	T	0.002486	0.04925	T	0.032	0.07718	0.351	0.34922	0.40218521252	0.39833	0.34823506153297556	0.34737	0.298544427098	0.32233	0.456000864506	0.32764	T	0.002284	0.01681	T	-0.231562	0.16443	T	-0.570399	0.15413	T	0.190426550853689	0.19870	T	0.884611	0.60805	D	0.09186258	0.21538	0.18858026	0.42156	0.09186258	0.21537	0.18858026	0.42155	-10.296	0.75665	D	.	.	0.814	0.77921	P	.;.	.;.	2.038952	0.25915	16.93	0.92757931048686415	0.22267	0.05929	0.11884	N	AEFGBCI	0.029083	0.02681	N	-0.762402736010635	0.14298	0.7111185	-0.786993206038604	0.14814	0.7760162	0.996164057134624	0.34566	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.47	3.47	0.38831	0.015000	0.13250	.	.	0.499000	0.22661	0.001000	0.13787	0.000000	0.08366	0.013000	0.09966	0.0:0.8668:0.0:0.1332	6.619	0.21985	480	0.77422	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	421.98	38	chr1	152112079	.	C	T	421.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.13;DP=639;ExcessHet=0.0000;FS=1.173;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=58.42;MQRankSum=-1.669e+00;QD=18.35;ReadPosRankSum=0.315;SOR=0.916	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:29,0:29:86:.:.:0,86,816	20	0	1	0
chr1	152112091	152112091	-	CTGCTCGCGCCTCTCCTCCTC	exonic	TCHH	.	nonframeshift insertion	TCHH:NM_007113:exon3:c.1125_1126insGAGGAGGAGAGGCGCGAGCAG:p.Q375_Q376insEEERREQ,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0019	0.0006	0	0	0.0001	0	0.0003	3.84e-05	1	26028	rs775651068	0.0004	0.0004	0.0004	0.0004	0.0059	0.0003	0.0003	0.0052	0.0049	0.0059	0.0008	0.0023	0.0010	0	0.0007	0.0001	0.0008	0.0005	6.43e-05	7.653e-05	7.043e-05	5.761e-05	0.0002	2.968e-05	2.114e-05	7.459e-05	4.827e-05	0.0002	0	9.549e-05	0.0003	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	30.31	43	chr1	152112091	.	G	GCTGCTCGCGCCTCTCCTCCTC	30.31	.	AC=1;AF=0.024;AN=42;DP=733;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.37;QD=2.53;SOR=0.148	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,108,1051	20	0	1	0
chr1	152155724	152155724	G	A	exonic	RPTN	.	stopgain	RPTN:NM_001122965:exon3:c.C1375T:p.Q459X,	.	.	454	1060	7	1	0	9	0.00422734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.818	19.39	1.05	-0.061	0.583	7.665	.	.	.	0.00139776	0.0013	0	0.0003	0	0	0.0003	0	0.0079	0.0010543	163	154602	rs189546119	0.0007	0.0006	0.0004	0.0009	0.0077	0.0006	0.0006	0.0072	0.0070	3.008e-05	0.0003	0	2.544e-05	1.894e-05	0.0028	0.0002	0.0008	0.0077	0.0005	0.0005	0.0004	0.0005	0.0071	0.0004	0.0003	0.0052	0.0046	2.42e-05	0	0.0007	0	0.0002	0	0.0035	0.0003	0.0005	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.056	0.02759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.126774	0.32019	T	0.0495461	0.73553	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.168517	0.86628	29.0	0.94868377652946201	0.25687	0.09377	0.15145	N	AEFGBI	0.027413	0.02233	N	-0.226976483924446	0.32031	1.802123	-0.563101106031878	0.20458	1.102326	6.4132569329821E-5	0.04366	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.21	1.05	0.19280	0.242000	0.17862	.	.	0.642000	0.52262	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0769:0.0:0.5104:0.4127	7.665	0.27593	637	0.64373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	12912.08	237	chr1	152155724	.	G	A	12912.08	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.407e+00;DP=3200;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=59.82;MQRankSum=2.00;QD=23.52;ReadPosRankSum=7.84;SOR=0.725	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,103,1390	20	1	0	0
chr1	152213231	152213231	G	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.C8398A:p.Q2800K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.053	B	0.002	B	.	.	1.000	N	0.55	N	4.3	T	-0.911	T	0.001	T	0.235	0.459	6.493	-3.63	-1.324	-1.320	3.219	0.017	0.00205980800472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.213	0.26467	T	0.053	0.22573	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	4.3	0.02437	T	-0.59	0.17624	N	0.225	0.25253	-0.9109	0.46744	T	0.001	0.00408	T	9	0.06558767	0.08870	T	0.00206	0.03775	T	0.017	0.02790	0.277	0.23004	0.219573609325	0.21563	0.004191916661665486	0.00393	.	.	0.271818518639	0.06380	T	0.013781	0.11858	T	-0.269417	0.11821	T	-0.624776	0.10814	T	0.101291604982006	0.12499	T	0.335166	0.07140	T	0.19959433	0.41904	0.13407904	0.32138	0.19959433	0.41904	0.13407904	0.32137	-6.95	0.53668	T	.	.	0.123	0.25817	B	.	.	-0.179348	0.03198	0.528	0.7087443078641622	0.09440	0.01719	0.05448	N	AEFI	0.033248	0.03905	N	-1.51696118221684	0.01738	0.07609423	-1.59849021593492	0.01664	0.07557488	7.50904644749043E-5	0.04552	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.76	-3.63	0.04238	-1.326000	0.02792	.	.	0.487000	0.22268	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3997:0.0:0.4171:0.1831	3.219	0.06309	567	0.70732	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3914.98	45	chr1	152213231	.	G	T	3914.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.230e-01;DP=1098;ExcessHet=0.0000;FS=0.881;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.30;MQRankSum=-4.295e+00;QD=12.67;ReadPosRankSum=2.84;SOR=0.751	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1298	20	0	1	0
chr1	152213599	152213599	C	G	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G8030C:p.R2677P,	.	.	475	1041	5	1	0	7	0.00335089	.	.	2809274	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.35	T	0.621	P	0.124	B	.	.	1.000	N	0.895	L	4.66	T	-0.934	T	0.001	T	0.366	0.111	4.595	-0.931	-0.305	-1.386	3.795	0.046	0.00213043663647	.	0.00119808	0.0009	0	0.0008	0	0	0.0009	0	0.0027	0.0004334	67	154602	rs201827906	0.0003	0.0003	0.0003	0.0004	0.0047	0.0003	0.0003	0.0030	0.0025	0	9.737e-05	0.0075	0	0	0.0047	4.167e-05	0.0007	0.0019	0.0003	0.0002	0.0003	0.0002	0.0022	0.0002	0.0001	0.0007	0.0004	0	0	0	0.0069	0	0	0	6.081e-05	0.0013	0.0022	0.041	0.41915	D	0.053	0.47336	T	0.621	0.39935	P	0.124	0.32546	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	4.66	0.01756	T	-1.84	0.43149	N	0.247	0.27910	-0.9337	0.43590	T	0.001	0.00408	T	9	0.005998373	0.00135	T	0.00213	0.03962	T	0.046	0.12618	0.295	0.25881	0.289098819767	0.28531	0.03749989017600015	0.03695	.	.	0.533039569855	0.43463	T	0.018844	0.15118	T	-0.572816	0.00213	T	-0.602063	0.12638	T	0.0252230997145705	0.01302	T	0.266473	0.04381	T	0.15334024	0.34762	0.14361298	0.34125	0.15334024	0.34762	0.14361298	0.34124	-10.832	0.78728	D	.	.	0.202	0.42706	B	.	.	0.430164	0.08007	4.723	0.4629172893559268	0.03697	0.00674	0.02901	N	AEFI	0.048143	0.08184	N	-1.14049914827462	0.05938	0.2720469	-1.27641881328538	0.04751	0.2248438	1.27178030711526E-5	0.02871	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.06	-0.931	0.09907	-1.248000	0.03001	.	.	-1.378000	0.01162	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.2349:0.1891:0.576	3.795	0.08252	567	0.70732	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1819.05	33	chr1	152213599	.	C	G	1819.05	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.93;DP=1283;ExcessHet=0.0000;FS=1.754;InbreedingCoeff=-0.0292;MLEAC=1;MLEAF=0.024;MQ=37.53;MQRankSum=0.673;QD=9.14;ReadPosRankSum=1.83;SOR=0.848	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1112	20	0	1	0
chr1	152214827	152214827	A	0	exonic	HRNR	.	.	.	.	.	441	898	8	0	175	183	0.00443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	1186.66	278	chr1	152214827	.	A	C,*	1186.66	.	AC=3,10;AF=0.071,0.238;AN=42;BaseQRankSum=4.86;DP=4621;ExcessHet=11.8493;FS=40.936;InbreedingCoeff=-0.4483;MLEAC=3,10;MLEAF=0.071,0.238;MQ=27.91;MQRankSum=2.09;QD=0.32;ReadPosRankSum=-5.707e+00;SOR=11.070	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:298,0,50:348:99:0|1:152214821_T_A:1160,2057,14477,0,12420,12270:152214821	8	0	3	0
chr1	152214830	152214830	C	0	exonic	HRNR	.	.	.	.	.	441	924	156	0	1	157	0.0778443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	998.62	267	chr1	152214830	.	C	CATGTTGGCCACAG,*	998.62	.	AC=3,10;AF=0.071,0.238;AN=42;BaseQRankSum=4.04;DP=4604;ExcessHet=11.8493;FS=41.163;InbreedingCoeff=-0.4483;MLEAC=3,10;MLEAF=0.071,0.238;MQ=27.81;MQRankSum=1.90;QD=0.27;ReadPosRankSum=-5.805e+00;SOR=11.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:298,0,50:348:99:0|1:152214821_T_A:1160,2057,14477,0,12420,12270:152214821	8	0	3	0
chr1	152216231	152216231	T	A	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.A5398T:p.T1800S,	.	.	431	1078	13	0	0	13	0.00599355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.0	B	.	.	1.000	N	-0.755	N	4.82	T	-0.970	T	0.001	T	0.065	0.777	8.104	-1.68	-0.779	0.003	4.774	0.006	0.00628436995336	.	.	0.0004	0.0026	0.0013	0.0004	0.0002	0.0002	0.0016	0.0003	3.84e-05	1	26028	rs747556761	4.199e-05	0.0013	4.316e-05	4.08e-05	0.0008	3.319e-05	2.987e-05	0.0003	0.0002	6.565e-05	9.376e-05	3.949e-05	0.0001	1.903e-05	0.0008	2.382e-05	0.0001	0.0001	0.0004	0.0044	0.0004	0.0004	0.0013	0.0003	0.0003	0.0008	0.0007	0.0010	0	0.0004	0	0.0013	0	0	9.062e-05	0	0.0005	0.723	0.03892	T	0.655	0.06621	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.565	0.00047	N	4.82	0.01504	T	0.52	0.02853	N	0.045	0.01740	-0.9701	0.37179	T	0.001	0.00188	T	9	0.012336522	0.00265	T	0.006284	0.16493	T	0.006	0.00375	.	.	0.206339911435	0.20273	0.015951484976090592	0.01551	.	.	0.614307284355	0.54924	T	0.014008	0.12005	T	-0.406332	0.02103	T	-0.821444	0.01423	T	0.00740461984777442	0.00085	T	0.105489	0.00786	T	0.023239922	0.01046	0.03235243	0.01958	0.023239922	0.01046	0.03235243	0.01958	-5.365	0.40582	T	.	.	0.077	0.06250	B	.	.	-0.434549	0.02086	0.194	0.73827392168679173	0.10470	0.00062	0.00453	N	AEFGBI	0.016420	0.00368	N	-1.6270208058138	0.01135	0.04932641	-1.60701516157953	0.01613	0.07318866	8.32860478702022E-5	0.04703	0.553676	0.25195	0	0.588066	0.40923	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.94	-1.68	0.07773	-0.505000	0.06448	.	.	-0.810000	0.03076	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2859:0.0:0.1033:0.6108	4.774	0.12542	569	0.70546	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05	439.82	378	chr1	152216231	.	T	A	439.82	.	AC=2;AF=0.050;AN=40;BaseQRankSum=6.55;DP=5746;ExcessHet=0.1072;FS=71.508;InbreedingCoeff=-0.0640;MLEAC=2;MLEAF=0.050;MQ=29.65;MQRankSum=0.280;QD=1.16;ReadPosRankSum=-3.850e+00;SOR=6.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:443,0:443:99:.:.:0,120,1800	18	0	2	1
chr1	152216237	152216240	ATCC	-	exonic	HRNR	.	frameshift deletion	HRNR:NM_001009931:exon3:c.5389_5392del:p.G1797Lfs*193,	.	.	430	1086	6	0	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0044	.	0.0001	0.0013	0	0.0002	0	4.393e-05	0.0016	0	7.68e-05	2	26028	rs754237366	2.14e-05	0.0006	2.335e-05	1.943e-05	0.0006	1.534e-05	1.336e-05	0.0002	8.597e-05	3.101e-05	4.55e-05	0	0.0001	1.891e-05	0.0006	9.053e-06	3.356e-05	9.367e-05	0.0002	0.0028	0.0002	0.0002	0.0010	0.0001	9.9e-05	0.0004	0.0003	0.0004	0	6.673e-05	0	0.0010	0	0	2.951e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	197.94	378	chr1	152216236	.	GATCC	G	197.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.705e+00;DP=5667;ExcessHet=0.0000;FS=36.875;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=29.62;MQRankSum=0.649;QD=1.04;ReadPosRankSum=-4.828e+00;SOR=5.103	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:443,0:443:99:.:.:0,120,1800	20	0	1	0
chr1	152216237	152216237	A	C	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.T5392G:p.S1798A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99	T	0.005	B	0.005	B	.	.	1.000	N	1.32	L	4.61	T	-0.903	T	0.002	T	0.042	0.115	4.616	0.01	-0.102	0.210	6.046	0.030	0.00320718309653	.	.	3.976e-05	0.0003	0	0.0002	0.0002	0	0	0	3.84e-05	1	26028	rs200918497	4.864e-06	0.0003	1.382e-06	8.382e-06	3.182e-05	2.02e-06	1.3e-06	8.5e-07	5.8e-07	3.182e-05	2.306e-05	0	2.568e-05	0	0	3.642e-06	0	0	4.84e-05	0.0009	2.702e-05	7.083e-05	0.0001	2.209e-05	1.591e-05	5.326e-05	3.477e-05	0.0001	0	6.895e-05	0	0	0	0	1.492e-05	0	0	0.102	0.30235	T	0.564	0.08991	T	0.005	0.12996	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	1.905	0.50856	L	4.61	0.01851	T	-0.91	0.24460	N	0.062	0.03392	-0.9028	0.47694	T	0.002	0.00556	T	9	0.044402808	0.03392	T	0.003207	0.07057	T	0.030	0.07022	.	.	0.226586394389	0.22295	0.014213539113717704	0.01378	.	.	0.627296507359	0.56762	T	0.014355	0.12236	T	-0.383644	0.02954	T	-0.788855	0.02196	T	0.0236981678754091	0.01108	T	0.10279	0.00763	T	0.059813246	0.12200	0.046131834	0.06363	0.059813246	0.12199	0.046131834	0.06362	-7.573	0.58122	D	.	.	0.125	0.26294	B	.	.	0.147715	0.05405	1.881	0.31025658243923265	0.01727	0.02987	0.07842	N	AEFGBI	0.027282	0.02201	N	-1.63258280185297	0.01110	0.0482174	-1.65035894350604	0.01374	0.0620649	5.2093764113644E-5	0.04171	0.553676	0.25195	0	0.547309	0.14657	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.94	0.01	0.13403	0.193000	0.16921	.	.	-0.786000	0.03287	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6033:0.3077:0.089:0.0	6.046	0.18986	569	0.70546	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	86.06	378	chr1	152216237	.	A	C,*	86.06	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=3.81;DP=5668;ExcessHet=0.1072;FS=64.911;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=30.01;MQRankSum=0.061;QD=0.24;ReadPosRankSum=-4.736e+00;SOR=6.149	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:443,0,0:443:99:.:.:0,120,1800,120,1800,1800	19	0	1	0
chr1	152216237	152216237	A	0	exonic	HRNR	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	86.06	378	chr1	152216237	.	A	C,*	86.06	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=3.81;DP=5668;ExcessHet=0.1072;FS=64.911;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=30.01;MQRankSum=0.061;QD=0.24;ReadPosRankSum=-4.736e+00;SOR=6.149	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:443,0,0:443:99:.:.:0,120,1800,120,1800,1800	19	0	1	0
chr1	152216240	152216240	-	ATGTTGGCCACAG	exonic	HRNR	.	frameshift insertion	HRNR:NM_001009931:exon3:c.5388_5389insCTGTGGCCAACAT:p.G1797Lfs*7,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1353813359	0	3.426e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	2.691e-05	0.0006	1.314e-05	4.135e-05	7.671e-05	8.29e-06	5.24e-06	2.034e-05	1.064e-05	7.671e-05	0	0	0	0	0	0	1.477e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	62.03	378	chr1	152216240	.	C	CATGTTGGCCACAG,*	62.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.982;DP=5553;ExcessHet=0.1072;FS=62.755;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=30.05;MQRankSum=0.582;QD=0.17;ReadPosRankSum=-4.845e+00;SOR=6.173	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:443,0,0:443:99:.:.:0,120,1800,120,1800,1800	19	0	1	0
chr1	152216240	152216240	C	0	exonic	HRNR	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	62.03	378	chr1	152216240	.	C	CATGTTGGCCACAG,*	62.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.982;DP=5553;ExcessHet=0.1072;FS=62.755;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=30.05;MQRankSum=0.582;QD=0.17;ReadPosRankSum=-4.845e+00;SOR=6.173	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:443,0,0:443:99:.:.:0,120,1800,120,1800,1800	19	0	1	0
chr1	152216243	152216243	C	G	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G5386C:p.E1796Q,	.	.	432	1082	8	0	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.0	B	0.0	B	.	.	1.000	N	0.2	N	4.75	T	-0.927	T	0.001	T	0.122	-0.037	3.823	-7.62	-3.576	-3.569	8.919	0.010	0.00161648153375	.	.	0.0004	0	0.0005	0	0	0.0001	0	0.0021	3.84e-05	1	26028	rs748246449	5.547e-06	0.0003	2.759e-06	8.365e-06	3.561e-05	2.39e-06	1.73e-06	9.46e-06	4.62e-06	0	0	0	0	0	0	4.543e-06	0	3.561e-05	1.38e-05	0.0003	2.692e-05	0	0.0002	2.29e-06	8.6e-07	.	.	0	0	0	0	0.0002	0	0	0	0	0.0002	1.0	0.00964	T	0.637	0.07037	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.895	0.01383	N	4.75	0.01589	T	0.6	0.02518	N	0.05	0.02179	-0.9271	0.44559	T	0.001	0.00287	T	9	0.00765118	0.00174	T	0.001616	0.02600	T	0.010	0.01040	0.189	0.09907	0.213573922156	0.20996	0.03444694823272597	0.03392	.	.	0.669062614441	0.62704	T	0.014008	0.12005	T	-0.626696	0.00100	T	-0.79081	0.02142	T	0.0203109833810443	0.00731	T	0.213579	0.02626	T	0.039061114	0.05324	0.03396393	0.02380	0.039061114	0.05324	0.03396393	0.02380	-7.355	0.56586	T	.	.	0.082	0.08560	B	.	.	-0.946216	0.00851	0.030	0.40433591077939218	0.02853	0.00051	0.00397	N	AEFGBI	0.015651	0.00309	N	-2.42481159441604	0.00024	0.001026232	-2.50540795925852	0.00022	0.0009924888	0.950111666264303	0.27879	0.553676	0.25195	0	0.547309	0.14657	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.81	-7.62	0.01154	-2.757000	0.00858	.	.	-6.787000	0.00002	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3282:0.4572:0.2146:0.0	8.919	0.34763	569	0.70546	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	32.98	378	chr1	152216243	.	C	G	32.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.62;DP=5548;ExcessHet=0.0000;FS=0.945;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=30.04;MQRankSum=-1.038e+00;QD=0.08;ReadPosRankSum=-1.740e-01;SOR=0.994	GT:AD:DP:GQ:PL	0/0:443,0:443:99:0,120,1800	20	0	1	0
chr1	152216244	152216244	-	ATGT	exonic	HRNR	.	frameshift insertion	HRNR:NM_001009931:exon3:c.5384_5385insACAT:p.E1796Hfs*5,	.	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.182e-05	0.0009	0	0	0	2.379e-05	0.0018	0	7.68e-05	2	26028	rs762457435	1.525e-05	0.0005	1.655e-05	1.393e-05	0.0004	9.98e-06	8.52e-06	7.162e-05	2.981e-05	3.141e-05	2.29e-05	0	0.0001	0	0.0004	3.634e-06	6.738e-05	7.061e-05	0.0001	0.0025	0.0002	9.858e-05	0.0010	8.528e-05	7.023e-05	0.0004	0.0003	0.0003	0	6.859e-05	0	0.0010	0	0	2.974e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	149.29	378	chr1	152216244	.	C	CATGT	149.29	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.444;DP=5496;ExcessHet=0.0000;FS=35.012;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=29.49;MQRankSum=0.948;QD=0.81;ReadPosRankSum=-4.435e+00;SOR=5.036	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:443,0:443:99:.:.:0,120,1800	19	0	1	1
chr1	152216709	152216711	GTG	-	exonic	HRNR	.	nonframeshift deletion	HRNR:NM_001009931:exon3:c.4918_4920del:p.H1640del,	.	.	491	1022	9	0	0	9	0.00438383	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1403795514	6.077e-05	0.0006	4.854e-05	7.283e-05	0.0007	4.767e-05	4.358e-05	0.0005	0.0004	0	0	0	2.914e-05	0	0.0003	1.703e-05	7.089e-05	0.0007	4.618e-05	0.0002	0	9.894e-05	0.0009	1.478e-05	9.26e-06	0.0002	6.698e-05	6.124e-05	0	0	0	0	0	0	2.077e-05	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	73.3	62	chr1	152216708	.	CGTG	C	73.3	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.48;DP=822;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=24.48;MQRankSum=0.525;QD=1.59;ReadPosRankSum=-1.783e+00;SOR=0.020	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,120,1800	19	0	1	1
chr1	152217506	152217506	A	G	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.T4123C:p.Y1375H,	.	.	1144	376	0	2	0	4	0.00529101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.03	B	0.005	B	.	.	1.000	N	-1.245	N	3.81	T	-0.910	T	0.001	T	0.243	0.474	6.571	-6.98	-1.668	-2.067	1.705	0.018	0.00173056149379	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1309534987	0.0011	0.0054	0.0013	0.0008	0.0069	0.0008	0.0007	0.0013	0.0010	0	0.0027	0	0.0016	0	0.0069	0.0014	0	0.0025	0	0.0039	0	0	.	0	0	.	.	0	.	0	.	.	.	.	0	0	0	0.05	0.39575	D	0.633	0.07127	T	0.03	0.20002	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	1.935	0.51832	L	3.81	0.03754	T	0.21	0.04776	N	0.146	0.14763	-0.9104	0.46805	T	0.001	0.00318	T	9	0.050194085	0.04716	T	0.001731	0.02908	T	0.018	0.03083	0.229	0.15556	0.267299060538	0.26338	0.04758130645969206	0.04701	.	.	0.516538083553	0.41139	T	0.015148	0.12759	T	-0.280112	0.10656	T	-0.640138	0.09659	T	0.0469758134912459	0.04960	T	0.285271	0.05070	T	0.03716449	0.04714	0.03682694	0.03208	0.03716449	0.04713	0.03682694	0.03208	-6.239	0.48237	T	.	.	0.254	0.48827	B	.	.	0.175161	0.05637	2.086	0.36949164820005748	0.02406	0.01097	0.04030	N	AEFI	0.038503	0.05457	N	-1.8575146582502	0.00419	0.01802566	-1.90394947169819	0.00481	0.02130543	0.0101384164433719	0.11972	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.49	-6.98	0.01454	-0.428000	0.07059	.	.	-0.291000	0.06292	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2856:0.2579:0.3295:0.1271	1.705	0.02706	569	0.70546	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09091	53.87	1	chr1	152217506	.	A	G	53.87	.	AC=2;AF=0.091;AN=22;DP=19;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2431;MLEAC=2;MLEAF=0.091;MQ=25.00;QD=26.93;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	./.	10	1	0	10
chr1	152217781	152217781	A	G	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.T3848C:p.V1283A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.0	B	0.0	B	.	.	1.000	N	0	N	4.73	T	-0.962	T	0.001	T	0.078	1.870	12.21	0.799	-0.194	-0.826	0.621	0.038	0.00156930846409	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1442287419	0.0029	0.0095	0.0028	0.0030	0.0047	0.0028	0.0028	0.0031	0.0030	0.0006	0.0012	0.0020	0.0022	0.0067	0.0047	0.0031	0.0029	0.0035	0	0.0027	0	0	.	0	0	.	.	0	.	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.992	0.02353	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	4.73	0.01620	T	0.7	0.02163	N	0.03	0.00717	-0.9616	0.38877	T	0.001	0.00255	T	9	0.029268175	0.01054	T	0.001569	0.02497	T	0.038	0.09825	.	.	0.134241683229	0.13084	0.04609718830454687	0.04553	.	.	0.565197229385	0.48000	T	0.016156	0.13408	T	-0.395685	0.02471	T	-0.806151	0.01753	T	0.0454965832227297	0.04692	T	0.0984901	0.00732	T	0.015719363	0.00154	0.033182845	0.02172	0.015719363	0.00153	0.033182845	0.02171	-4.809	0.34696	T	.	.	0.107	0.20038	B	.	.	0.386570	0.07583	4.240	0.68866433575881314	0.08791	0.00701	0.02979	N	AEFI	0.017628	0.00475	N	-1.64764876302481	0.01045	0.04533176	-1.64771040346924	0.01388	0.06270139	1.24053570321182E-5	0.02871	0.553676	0.25195	0	0.547309	0.14657	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.77	0.799	0.17810	-0.650000	0.05477	.	.	-0.442000	0.05168	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.198:0.3712:0.1932:0.2377	0.621	0.00727	569	0.70546	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02941	56.15	6	chr1	152217781	.	A	G	56.15	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.440e+00;DP=253;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.0436;MLEAC=1;MLEAF=0.029;MQ=28.21;MQRankSum=0.00;QD=9.36;ReadPosRankSum=0.253;SOR=0.693	GT:AD:DP:GQ:PL	./.:4,0:4:0:0,0,82	16	0	1	4
chr1	152218472	152218472	G	A	exonic	HRNR	.	stopgain	HRNR:NM_001009931:exon3:c.C3157T:p.R1053X,	.	.	429	1092	0	1	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	6.391	37	1.39	0.303	1.401	4.963	.	.	.	0.000399361	0.0005	0	8.637e-05	0.0002	0.0015	0.0005	0.0011	0.0011	0.0004334	67	154602	rs141889832	0.0004	0.0004	0.0004	0.0004	0.0042	0.0004	0.0004	0.0029	0.0024	8.962e-05	4.472e-05	3.826e-05	0.0009	0.0020	0.0042	0.0003	0.0004	0.0010	0.0003	0.0002	0.0001	0.0004	0.0012	0.0002	0.0002	0.0005	0.0004	7.252e-05	0	6.542e-05	0	0	0.0016	0.0034	0.0001	0.0005	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0295484	0.55664	T	0.219227	0.84137	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	6.864491	0.95840	35	0.99512893371593392	0.68739	0.00596	0.02666	N	AEFBI	0.034654	0.04329	N	-0.0225011713388438	0.40838	2.43219	-0.426597283237807	0.24220	1.325095	1.53585699489986E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.38	1.39	0.21325	0.799000	0.26688	.	.	0.453000	0.21368	0.001000	0.13787	.	.	0.002000	0.04165	0.3224:0.0:0.6776:0.0	4.963	0.13427	569	0.70546	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	5374.98	356	chr1	152218472	.	G	A	5374.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.41;DP=3946;ExcessHet=0.0000;FS=4.727;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.88;MQRankSum=-8.550e-01;QD=15.10;ReadPosRankSum=-8.740e-01;SOR=0.941	GT:AD:DP:GQ:PL	0/0:149,0:149:99:0,120,1800	20	0	1	0
chr1	152218546	152218546	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G3083A:p.R1028K,	.	.	420	1088	13	1	0	15	0.00684619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.89	T	0.003	B	0.0	B	.	.	1.000	N	0.55	N	4.51	T	-0.940	T	0.001	T	0.119	0.772	8.077	-0.934	-0.316	-2.854	6.410	0.012	0.00205941874828	0.0005	0.000399361	0.0006	9.61e-05	0.0005	0.0002	0	0.0003	0.0011	0.0027	0.0004916	76	154602	rs139825906	0.0005	0.0005	0.0004	0.0006	0.0033	0.0005	0.0005	0.0029	0.0028	2.987e-05	0.0006	0.0011	0	1.872e-05	0.0016	0.0004	0.0007	0.0033	0.0003	0.0003	0.0003	0.0003	0.0023	0.0002	0.0002	0.0013	0.0010	7.23e-05	0	0.0003	0.0012	0	0	0	0.0003	0.0005	0.0023	1.0	0.00964	T	0.997	0.02325	T	0.003	0.11197	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	4.51	0.02015	T	-0.49	0.15578	N	0.1	0.08227	-0.9403	0.42568	T	0.001	0.00438	T	9	0.009475589	0.00214	T	0.002059	0.03775	T	0.012	0.01476	.	.	0.301455362545	0.29754	0.0052821143759877445	0.00499	.	.	0.539631009102	0.44393	T	0.016013	0.13319	T	-0.680243	0.00048	T	-0.753577	0.03349	T	0.00397605125544285	0.00042	T	0.180382	0.01798	T	0.064437516	0.13672	0.05156177	0.08322	0.064437516	0.13671	0.05156177	0.08321	-6.278	0.48548	T	.	.	0.145	0.31882	B	.	.	0.113539	0.05123	1.652	0.5233946700520915	0.04729	0.00637	0.02791	N	AEFBI	0.032491	0.03683	N	-1.50900998435382	0.01790	0.07843129	-1.54717309693685	0.01995	0.09115902	1.30687003692073E-5	0.02871	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.41	-0.934	0.09897	-0.294000	0.08346	.	.	-0.373000	0.05434	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.506:0.0:0.494	6.410	0.20889	569	0.70546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4702.98	353	chr1	152218546	.	C	T	4702.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.43;DP=4423;ExcessHet=0.0000;FS=1.188;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.97;MQRankSum=-2.227e+00;QD=7.59;ReadPosRankSum=0.240;SOR=0.613	GT:AD:DP:GQ:PL	0/1:424,196:620:99:4717,0,11683	20	0	1	0
chr1	152218574	152218574	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G3055A:p.G1019R,	.	.	416	1072	34	0	0	34	0.0156107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.546	P	0.051	B	.	.	1.000	N	0.46	N	4.58	T	-0.935	T	0.001	T	0.094	0.191	5.029	1.04	0.133	-1.392	5.238	0.011	.	0.0008	0.00339457	0.0024	0.0003	0.0009	0.0003	0.0008	0.0006	0.0055	0.0141	0.0021086	326	154602	rs150117899	0.0013	0.0013	0.0009	0.0017	0.0232	0.0012	0.0012	0.0200	0.0188	0.0004	0.0005	0.0003	7.56e-05	0.0003	0.0232	0.0004	0.0019	0.0132	0.0009	0.0009	0.0007	0.0010	0.0133	0.0007	0.0007	0.0107	0.0098	0.0002	0	0.0002	0	0.0002	0	0.0170	0.0006	0.0024	0.0133	0.113	0.28772	T	0.078	0.42261	T	0.546	0.38028	P	0.051	0.25434	B	.	.	.	.	1	0.08975	N	1.54	0.38927	L	4.58	0.01901	T	-1.73	0.41046	N	0.053	0.02462	-0.9355	0.43318	T	0.001	0.00438	T	9	0.003388822	0.00059	T	.	.	.	0.011	0.01250	0.278	0.23164	0.350307294319	0.34646	0.0024863189592469093	0.00230	.	.	0.580455064774	0.50149	T	0.031719	0.22169	T	-0.706007	0.00034	T	-0.775875	0.02580	T	0.00664501759776044	0.00074	T	0.321768	0.06536	T	0.045579843	0.07485	0.07004887	0.14837	0.045579843	0.07484	0.07004887	0.14836	-5.706	0.43747	T	.	.	0.140	0.30608	B	.	.	-0.214648	0.03016	0.459	0.58679292666945504	0.06048	0.01260	0.04422	N	AEFBI	0.029677	0.02845	N	-1.11917760657677	0.06302	0.2897489	-1.20590993068046	0.05814	0.2781021	1.35723934429664E-5	0.02871	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.0	1.04	0.19220	-1.303000	0.02852	.	.	-2.761000	0.00195	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7071:0.0:0.2929	5.238	0.14774	569	0.70546	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	6198.98	353	chr1	152218574	.	C	T	6198.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.80;DP=4527;ExcessHet=0.0000;FS=0.521;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.78;MQRankSum=-1.073e+00;QD=13.48;ReadPosRankSum=0.273;SOR=0.614	GT:AD:DP:GQ:PL	0/0:400,0:400:99:0,120,1800	20	0	1	0
chr1	152218606	152218606	C	G	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G3023C:p.S1008T,	.	.	412	1101	9	0	0	9	0.00407056	.	.	2809285	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.6	T	0.963	D	0.528	P	.	.	1.000	N	0.55	N	4.71	T	-0.843	T	0.002	T	0.079	1.051	9.293	3.45	1.957	1.099	10.728	0.087	0.00110861180852	.	0.000998403	0.0019	0.0002	0.0007	0	0.0009	0.0015	0.0011	0.0070	0.0016688	258	154602	rs139947063	0.0014	0.0014	0.0013	0.0016	0.0074	0.0014	0.0014	0.0069	0.0067	0.0002	0.0003	0.0042	2.52e-05	0.0014	0.0023	0.0010	0.0016	0.0074	0.0009	0.0009	0.0009	0.0010	0.0050	0.0008	0.0007	0.0034	0.0029	0.0001	0	6.645e-05	0.0032	0	0.0017	0	0.0011	0.0010	0.0050	0.555	0.06482	T	0.639	0.06992	T	0.963	0.55692	D	0.528	0.48482	P	.	.	.	.	1	0.08975	N	2.095	0.58118	M	4.71	0.01655	T	-0.73	0.20576	N	0.079	0.05414	-0.8425	0.52480	T	0.002	0.00738	T	9	0.006100327	0.00137	T	0.001109	0.01336	T	0.087	0.25287	.	.	0.500488203797	0.49686	0.006738800630482025	0.00640	.	.	0.592358231544	0.51826	T	0.012489	0.10966	T	-0.70872	0.00032	T	-0.786519	0.02262	T	0.0190158044986066	0.00610	T	0.163384	0.01486	T	0.051460028	0.09453	0.059344452	0.11122	0.051460028	0.09452	0.059344452	0.11121	-8.913	0.67135	D	.	.	0.164	0.36113	B	.	.	0.115534	0.05141	1.665	0.8014458234562376	0.13065	0.04896	0.10643	N	AEFBI	0.045548	0.07462	N	-0.430149653943294	0.24418	1.318314	-0.540379278260403	0.21062	1.137624	0.00125497324814373	0.08381	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.45	3.45	0.38602	-1.112000	0.03410	.	.	-0.619000	0.04561	0.000000	0.06391	0.003000	0.18671	0.002000	0.04165	0.0:1.0:0.0:0.0	10.728	0.45277	569	0.70546	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	4071.98	273	chr1	152218606	.	C	G	4071.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.470e-01;DP=4460;ExcessHet=0.0000;FS=0.379;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.51;MQRankSum=0.694;QD=11.10;ReadPosRankSum=-1.377e+00;SOR=0.668	GT:AD:DP:GQ:PL	0/0:400,0:400:99:0,120,1800	20	0	1	0
chr1	152218845	152218845	C	G	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G2784C:p.Q928H,	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.995	D	0.839	P	.	.	1.000	N	1.495	L	4.54	T	-0.885	T	0.007	T	0.077	0.530	6.870	2.81	1.924	-0.258	9.460	0.039	0.00277398207892	.	0.000199681	0.0004	0	8.637e-05	0.0001	0	0.0001	0.0011	0.0021	0.000304	47	154602	rs199549819	0.0002	0.0002	0.0001	0.0002	0.0016	0.0002	0.0002	0.0014	0.0013	0	2.236e-05	0	5.04e-05	0	0.0012	8.993e-05	0.0002	0.0016	0.0001	0.0001	0.0001	0.0001	0.0015	7.582e-05	6.286e-05	0.0007	0.0005	2.409e-05	0	0	0	0	0	0.0034	0.0001	0	0.0015	0.014	0.53172	D	0.121	0.35840	T	0.995	0.67487	D	0.839	0.60107	P	.	.	.	.	1	0.08975	N	2.215	0.62545	M	4.54	0.01963	T	-1.48	0.36189	N	0.108	0.09349	-0.8849	0.49365	T	0.007	0.02598	T	9	0.022691846	0.00574	T	0.002774	0.05752	T	0.039	0.10176	0.283	0.23961	0.509228182784	0.50563	0.008687222983592115	0.00832	.	.	0.514081060886	0.40794	T	0.019604	0.15585	T	-0.637546	0.00086	T	-0.707582	0.05421	T	0.0308943800628185	0.02129	T	0.304669	0.05813	T	0.06817321	0.14829	0.06522582	0.13188	0.06817321	0.14829	0.06522582	0.13188	-6.271	0.48493	T	.	.	0.190	0.40794	B	.	.	1.155514	0.15440	11.85	0.57709566375960941	0.05829	0.07031	0.13058	N	AEFBI	0.035298	0.04519	N	-0.200597682536222	0.33109	1.874776	-0.400489424023735	0.24982	1.371237	1.05634643418225E-4	0.05123	0.553676	0.25195	0	0.547309	0.14657	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.76	2.81	0.31971	-0.145000	0.10248	.	.	-0.307000	0.06116	0.000000	0.06391	.	.	0.042000	0.14466	0.0:0.8868:0.0:0.1132	9.460	0.37943	570	0.70478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4723.98	273	chr1	152218845	.	C	G	4723.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.840;DP=4654;ExcessHet=0.0000;FS=0.522;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=-1.131e+00;QD=10.64;ReadPosRankSum=0.523;SOR=0.764	GT:AD:DP:GQ:PL	0/0:400,0:400:99:0,120,1800	20	0	1	0
chr1	152219623	152219623	A	G	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.T2006C:p.F669S,	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.0	B	.	.	1.000	N	-1.525	N	4.37	T	-0.994	T	0.001	T	0.064	0.607	7.269	2.52	0.651	-0.409	8.714	0.034	.	.	0.00279553	0.0009	0	0.0002	0	0	4.495e-05	0	0.0061	0.0007956	123	154602	rs77790012	0.0004	0.0005	0.0002	0.0006	0.0064	0.0004	0.0004	0.0059	0.0058	0	2.264e-05	0	0.0001	0	0.0002	6.338e-06	0.0004	0.0064	0.0003	0.0004	0.0002	0.0004	0.0096	0.0002	0.0002	0.0072	0.0064	2.695e-05	0	0	0	0.0002	0	0	3.363e-05	0	0.0096	0.125	0.27310	T	0.709	0.05544	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.325	0.00090	N	4.37	0.02277	T	2.95	0.00148	N	0.094	0.07398	-0.9944	0.31459	T	0.001	0.00255	T	9	0.005220473	0.00114	T	.	.	.	0.034	0.08419	.	.	0.295623431141	0.29171	0.033653172035226414	0.03313	.	.	0.560231804848	0.47300	T	0.013727	0.11817	T	-0.410801	0.01963	T	-0.827863	0.01300	T	0.021996538704179	0.00908	T	0.142786	0.01162	T	0.029769693	0.02527	0.0867597	0.20122	0.029769693	0.02526	0.0867597	0.20121	2.422	0.00035	T	.	.	0.069	0.03093	B	.	.	-0.250657	0.02843	0.398	0.56543394743680775	0.05575	0.00010	0.00151	N	AEFBI	0.010405	0.00074	N	-1.43805631999196	0.02312	0.1019549	-1.35977285290676	0.03692	0.1727441	7.52600819089051E-5	0.04552	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.44	2.52	0.29514	-0.631000	0.05593	.	.	-1.235000	0.01322	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1177:0.0:0.8823:0.0	8.714	0.33561	570	0.70478	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.05	356.82	390	chr1	152219623	.	A	G	356.82	.	AC=2;AF=0.050;AN=40;BaseQRankSum=2.89;DP=8803;ExcessHet=0.1072;FS=7.455;InbreedingCoeff=-0.0515;MLEAC=1;MLEAF=0.025;MQ=59.04;MQRankSum=-1.697e+01;QD=0.38;ReadPosRankSum=-6.878e+00;SOR=1.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:435,40:475:99:0|1:152219622_A_G:370,0,18117:152219622	18	0	2	1
chr1	152219626	152219626	T	C	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.A2003G:p.D668G,	.	.	424	1094	2	0	2	4	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.0	B	0.0	B	.	.	1.000	N	-1.355	N	3.82	T	-0.930	T	0.001	T	0.075	0.541	6.927	-4.87	-1.002	-2.367	5.561	0.022	0.00115791171022	.	.	2.471e-05	0	0	0	0	4.495e-05	0	0	0.00073	19	26028	rs201373508	8.49e-06	0.0001	9.849e-06	7.115e-06	3.53e-05	4.53e-06	3.58e-06	9.38e-06	4.6e-06	0	0	0	0	0	0	7.41e-06	1.742e-05	3.53e-05	4.634e-05	0.0002	7.256e-05	1.895e-05	0.0002	1.755e-05	1.184e-05	3.046e-05	1.262e-05	3.18e-05	0	0.0002	0	0	0	0	4.303e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.49	0.00058	N	3.82	0.03728	T	1.88	0.00467	N	0.075	0.04913	-0.9305	0.44066	T	0.001	0.00287	T	9	0.023259073	0.00603	T	0.001158	0.01459	T	0.022	0.04323	.	.	0.134241683229	0.13084	0.025996270308110095	0.02550	.	.	0.479595899582	0.36001	T	0.01356	0.11709	T	-0.417779	0.01767	T	-0.837887	0.01131	T	0.0233545887119417	0.01065	T	0.194581	0.02117	T	0.026619844	0.01743	0.05906723	0.11022	0.026619844	0.01743	0.05906723	0.11022	1.939	0.00055	T	.	.	0.092	0.13503	B	.	.	-0.821274	0.01066	0.046	0.43249806253065387	0.03243	0.00199	0.01145	N	AEFBI	0.017387	0.00452	N	-1.79079954483704	0.00568	0.02446565	-1.8032040271601	0.00749	0.03338449	3.23504371043759E-4	0.06540	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.44	-4.87	0.02893	-2.060000	0.01480	.	.	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4184:0.2235:0.3581	5.561	0.16427	570	0.70478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1669.56	390	chr1	152219626	.	T	C	1669.56	.	AC=2;AF=0.053;AN=38;BaseQRankSum=5.72;DP=9128;ExcessHet=0.1072;FS=13.411;InbreedingCoeff=-0.0771;MLEAC=2;MLEAF=0.053;MQ=58.22;MQRankSum=-1.842e+01;QD=1.68;ReadPosRankSum=-8.378e+00;SOR=1.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:444,79:523:99:0|1:152219622_A_G:1609,0,18302:152219622	17	0	2	2
chr1	152219645	152219645	G	A	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.C1984T:p.R662C,	.	.	414	1078	30	0	0	30	0.0137237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.985	D	0.301	B	.	.	1.000	N	1.04	L	3.8	T	-0.953	T	0.003	T	0.109	0.400	6.171	-6.59	-1.101	-5.394	5.516	0.099	.	0.0019	0.00459265	0.0041	0.0003	0.0017	0	0.0002	0.0019	0.0066	0.0210	0.0036287	561	154602	rs145811541	0.0030	0.0030	0.0024	0.0036	0.0202	0.0029	0.0029	0.0194	0.0191	0.0002	0.0018	0.0005	2.523e-05	0.0003	0.0049	0.0020	0.0029	0.0202	0.0022	0.0022	0.0018	0.0026	0.0186	0.0020	0.0019	0.0155	0.0144	0.0004	0	0.0050	0.0003	0.0002	0.0002	0.0034	0.0021	0.0038	0.0186	0.04	0.42199	D	0.178	0.29639	T	0.985	0.61118	D	0.301	0.41090	B	.	.	.	.	1	0.08975	N	0.44	0.12706	N	3.8	0.03781	T	0.01	0.06868	N	0.174	0.18649	-0.9531	0.40433	T	0.003	0.01026	T	9	0.004604012	0.00096	T	.	.	.	0.099	0.28413	.	.	0.283371740733	0.27958	0.03652351006151714	0.03599	.	.	0.451685249805	0.32174	T	0.017134	0.14032	T	-0.701663	0.00036	T	-0.764411	0.02956	T	0.0185895663332196	0.00574	T	0.332367	0.07003	T	0.054437596	0.10444	0.042932816	0.05227	0.054437596	0.10444	0.042932816	0.05227	-6.579	0.50892	T	.	.	0.159	0.35183	B	.	.	0.677437	0.10460	7.177	0.57917465448783112	0.05875	0.00183	0.01069	N	AEFBI	0.022770	0.01181	N	-1.2043704495708	0.04935	0.2238437	-1.45988590518893	0.02682	0.1238002	0.010966494872616	0.12109	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.3	-6.59	0.01663	-1.585000	0.02215	.	.	0.498000	0.22619	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5962:0.0:0.1517:0.2521	5.516	0.16195	570	0.70478	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	4537.98	551	chr1	152219645	.	G	A	4537.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.449;DP=10453;ExcessHet=0.0000;FS=0.524;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.59;MQRankSum=5.53;QD=10.53;ReadPosRankSum=1.86;SOR=0.733	GT:AD:DP:GQ:PL	0/0:543,0:543:99:0,120,1800	20	0	1	0
chr1	152303212	152303212	G	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.C11674T:p.R3892W,	Ichthyosis vulgaris, Autosomal dominant	.	0	1465	57	0	0	57	0.0190827	.	.	1195846	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.964	D	0.183	B	.	.	1.000	N	1.1	L	4.66	T	-0.860	T	0.002	T	0.141	1.278	10.18	1.13	0.403	0.711	5.602	0.082	0.00554769908557	0.0016	0.00159744	0.0027	0.0005	0.0010	0.0002	0.0054	0.0021	0.0044	0.0076	0.0023415	362	154602	rs141128022	0.0021	0.0021	0.0018	0.0024	0.0089	0.0020	0.0020	0.0084	0.0082	0.0003	0.0016	0.0083	2.519e-05	0.0048	0.0062	0.0014	0.0029	0.0089	0.0018	0.0019	0.0017	0.0020	0.0060	0.0017	0.0016	0.0043	0.0037	0.0004	0	0.0018	0.0081	0	0.0061	0.0068	0.0016	0.0019	0.0060	0.107	0.29554	T	.	.	.	0.964	0.55854	D	0.183	0.35961	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	4.66	0.01756	T	-0.69	0.19720	N	0.142	0.14196	-0.8597	0.51284	T	0.002	0.00526	T	9	0.0057953596	0.00129	T	0.005548	0.14319	T	0.082	0.23913	.	.	0.328222422547	0.32431	0.015331430378345676	0.01489	.	.	0.205580681562	0.00637	T	0.027624	0.20190	T	-0.616504	0.00115	T	-0.652933	0.08750	T	0.0155825827814693	0.00355	T	0.49745	0.15470	T	0.04290102	0.06590	0.030120097	0.01429	0.04290102	0.06589	0.030120097	0.01428	-6.245	0.48285	T	.	.	0.160	0.35456	B	.	.	2.053606	0.26105	17.00	0.98448850519908393	0.41598	0.06603	0.12618	N	AEFBI	0.077473	0.15610	N	-0.566929061247806	0.19955	1.048469	-0.755836527502834	0.15580	0.8200499	1.46969122758361E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.17	1.13	0.19758	1.153000	0.31287	.	.	0.613000	0.49114	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.676:0.324	5.602	0.16640	557	0.71576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4377.98	33	chr1	152303212	.	G	A	4377.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.62;DP=1330;ExcessHet=0.0000;FS=7.126;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=-5.270e-01;SOR=0.439	GT:AD:DP:GQ:PL	0/1:186,160:346:99:4392,0,4790	20	0	1	0
chr1	152304127	152304127	C	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G10759A:p.G3587S,	Ichthyosis vulgaris, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.98	T	0.89	P	0.362	B	.	.	1.000	N	0.77	N	5.56	T	-0.900	T	0.000	T	0.119	-0.099	3.513	-6.48	-3.276	-3.237	1.876	0.056	.	.	.	0.0071	0.0693	0.0026	0.0096	0	0.0002	0.0022	0.0009	0.0001921	5	26028	rs111939167	0.0005	0.0005	0.0005	0.0004	0.0145	0.0004	0.0004	0.0134	0.0130	0.0145	0.0004	0	2.581e-05	0	0.0007	9.457e-05	0.0007	1.194e-05	0.0035	0.0041	0.0039	0.0032	0.0123	0.0033	0.0032	0.0114	0.0110	0.0123	0	0.0007	0	0	0	0	0.0002	0.0051	0.0003	0.321	0.13522	T	.	.	.	0.89	0.48942	P	0.362	0.43260	B	.	.	.	.	1	0.08975	N	1.32	0.33002	L	5.56	0.00864	T	-0.38	0.13418	N	0.036	0.01068	-0.9004	0.47952	T	0.000	0.00152	T	9	0.0036518872	0.00067	T	.	.	.	0.056	0.15993	.	.	0.0666544352282	0.05500	0.012961986188588863	0.01254	.	.	0.207848519087	0.00723	T	0.017932	0.14543	T	-0.703876	0.00035	T	-0.769565	0.02782	T	0.00858069079330689	0.00105	T	0.412459	0.10726	T	0.032516934	0.03293	0.035238698	0.02738	0.032516934	0.03293	0.035238698	0.02738	-7.131	0.54984	T	.	.	0.073	0.04599	B	.	.	-0.827170	0.01055	0.045	0.67204668732341843	0.08285	0.00073	0.00509	N	AEFBI	0.019574	0.00692	N	-1.56133816822513	0.01470	0.06413908	-1.79243224205422	0.00784	0.03496011	0.584559966993551	0.21598	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.24	-6.48	0.01726	-3.241000	0.00601	.	.	-2.256000	0.00335	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2398:0.387:0.2291:0.1442	1.876	0.03023	557	0.71576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	6682.98	33	chr1	152304127	.	C	T	6682.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.060e-01;DP=2962;ExcessHet=0.0000;FS=34.172;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.76;MQRankSum=9.99;QD=27.06;ReadPosRankSum=5.45;SOR=0.087	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,118,1800	20	0	1	0
chr1	152304708	152304708	T	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A10178G:p.H3393R,	Ichthyosis vulgaris, Autosomal dominant	.	0	1515	7	0	0	7	0.00230491	.	.	3398028	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.6	T	0.995	D	0.992	D	.	.	1.000	N	2.565	M	5.69	T	-0.921	T	0.003	T	0.268	1.156	9.709	-0.074	-0.024	0.165	3.188	0.040	0.00126279024865	0.0005	0.000399361	0.0013	0.0002	0.0003	0	0.0008	0.0010	0.0022	0.0045	0.0010414	161	154602	rs146234375	0.0010	0.0010	0.0009	0.0011	0.0045	0.0010	0.0010	0.0041	0.0040	0.0002	0.0002	0	2.519e-05	0.0014	0.0010	0.0009	0.0011	0.0045	0.0006	0.0006	0.0005	0.0006	0.0030	0.0005	0.0004	0.0018	0.0014	0.0001	0	6.562e-05	0	0	0.0014	0	0.0007	0.0005	0.0030	0.0	0.91255	D	.	.	.	0.995	0.67487	D	0.992	0.80445	D	.	.	.	.	1	0.08975	N	2.93	0.84523	M	5.69	0.00751	T	-1.0	0.26422	N	0.263	0.29774	-0.9213	0.45376	T	0.003	0.00961	T	9	0.008478224	0.00192	T	0.001263	0.01708	T	0.040	0.10527	.	.	0.240491677333	0.23641	0.02466903177757091	0.02417	.	.	0.303413420916	0.10912	T	0.042071	0.26065	T	-0.535603	0.00356	T	-0.541866	0.18113	T	0.0571198715530798	0.06708	T	0.449655	0.12671	T	0.11637667	0.27450	0.12726234	0.30638	0.11637667	0.27449	0.12726234	0.30637	-6.799	0.52552	T	.	.	0.142	0.31228	B	.	.	1.427122	0.18448	13.74	0.78699132338450051	0.12414	0.01027	0.03855	N	AEFBI	0.027410	0.02233	N	-0.418803775408269	0.24810	1.342288	-0.727992129375882	0.16265	0.8596216	1.15605584978908E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.54	-0.0744	0.13064	-0.545000	0.06159	.	.	-0.886000	0.02417	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.144:0.2438:0.6122	3.188	0.06211	558	0.71484	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	4647.98	33	chr1	152304708	.	T	C	4647.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.225e+00;DP=4602;ExcessHet=0.0000;FS=4.193;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.20;MQRankSum=-9.130e-01;QD=11.20;ReadPosRankSum=-7.610e-01;SOR=1.011	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,118,1800	20	0	1	0
chr1	152304741	152304741	C	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G10145A:p.R3382H,	Ichthyosis vulgaris, Autosomal dominant	.	0	1476	43	3	0	49	0.0163279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.883	P	0.27	B	.	.	1.000	N	1.255	L	5.52	T	-0.975	T	0.001	T	0.117	1.397	10.60	-0.834	-0.105	-0.480	2.986	0.022	0.00462545530395	.	.	0.0020	9.612e-05	0.0004	0	0.0015	0.0014	0.0033	0.0082	0.0005379	14	26028	rs538503381	0.0007	0.0018	0.0006	0.0008	0.0039	0.0006	0.0006	0.0036	0.0035	0.0002	0.0007	0.0005	0	0.0019	0.0034	0.0004	0.0010	0.0039	0.0010	0.0015	0.0009	0.0011	0.0034	0.0008	0.0008	0.0021	0.0018	0.0001	0	0.0015	0.0009	0	0.0009	0.0068	0.0012	0.0010	0.0034	0.149	0.24758	T	.	.	.	0.883	0.48537	P	0.27	0.39872	B	.	.	.	.	1	0.08975	N	1.19	0.30124	L	5.52	0.00903	T	-0.1	0.08495	N	0.108	0.09349	-0.9747	0.36191	T	0.001	0.00287	T	9	0.007396579	0.00168	T	0.004625	0.11440	T	0.022	0.04323	.	.	0.141422826196	0.13715	0.023661763232786695	0.02318	.	.	0.214774474502	0.01030	T	0.014649	0.12428	T	-0.340482	0.05355	T	-0.726855	0.04471	T	0.00516087918524473	0.00056	T	0.467153	0.13745	T	0.022516126	0.00921	0.029107658	0.01212	0.022516126	0.00921	0.029107658	0.01212	-1.949	0.02994	T	.	.	0.089	0.12084	B	.	.	0.306583	0.06821	3.344	0.88431515061627186	0.17971	0.00053	0.00405	N	AEFBI	0.017940	0.00507	N	-0.94943907464144	0.09705	0.4605021	-1.12421512287398	0.07239	0.351394	1.26186836394157E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.24	-0.834	0.10234	-0.588000	0.05867	.	.	-0.380000	0.05395	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.303:0.2384:0.4586	2.986	0.05603	558	0.71484	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	956.98	33	chr1	152304741	.	C	T	956.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.012;DP=4602;ExcessHet=0.0000;FS=10.788;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.34;MQRankSum=-7.244e+00;QD=8.62;ReadPosRankSum=-2.330e-01;SOR=1.383	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:50,0:50:99:.:.:0,118,1800	20	0	1	0
chr1	152304750	152304750	C	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G10136C:p.R3379T,	Ichthyosis vulgaris, Autosomal dominant	.	0	1478	41	3	0	47	0.015651	.	.	1195851	not_provided	MedGen:C3661900	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.573	P	0.28	B	.	.	1.000	N	1.185	L	5.54	T	-0.982	T	0.001	T	0.155	-0.253	2.782	-0.788	-0.311	-1.202	3.156	0.033	0.00388584276816	.	0.000998403	0.0019	9.61e-05	0.0004	0	0.0015	0.0013	0.0033	0.0077	0.000461	12	26028	rs201591837	0.0005	0.0015	0.0004	0.0006	0.0031	0.0005	0.0005	0.0028	0.0027	0.0001	0.0005	0.0004	0	0.0014	0.0026	0.0003	0.0007	0.0031	0.0008	0.0014	0.0007	0.0009	0.0030	0.0007	0.0006	0.0018	0.0014	0.0001	0	0.0010	0.0003	0	0.0010	0.0034	0.0010	0.0010	0.0030	0.213	0.19430	T	.	.	.	0.573	0.38659	P	0.28	0.40294	B	.	.	.	.	1	0.08975	N	1.135	0.28956	L	5.54	0.00885	T	-0.04	0.07590	N	0.093	0.07262	-0.9823	0.34468	T	0.001	0.00255	T	9	0.007597655	0.00173	T	0.003886	0.09117	T	0.033	0.08068	.	.	0.115124310173	0.11017	0.025666013359611037	0.02517	.	.	0.251855075359	0.03966	T	0.014472	0.12316	T	-0.633111	0.00091	T	-0.68946	0.06420	T	0.0161739120759866	0.00392	T	0.330167	0.06908	T	0.04063355	0.05837	0.04006708	0.04246	0.04063355	0.05836	0.04006708	0.04246	-1.999	0.03177	T	.	.	0.145	0.32054	B	.	.	0.028474	0.04481	1.195	0.58047302028256498	0.05904	0.01253	0.04406	N	AEFBI	0.036869	0.04982	N	-1.21304293304196	0.04809	0.2178675	-1.356998709844	0.03723	0.1743007	1.26306756204176E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.61	-0.788	0.10387	-1.319000	0.02810	.	.	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4795:0.2276:0.293	3.156	0.06116	558	0.71484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	902.98	33	chr1	152304750	.	C	G	902.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.076e+00;DP=4605;ExcessHet=0.0000;FS=10.835;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.24;MQRankSum=-8.670e+00;QD=7.92;ReadPosRankSum=-1.875e+00;SOR=1.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:50,0:50:99:.:.:0,118,1800	20	0	1	0
chr1	152304753	152304753	C	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G10133A:p.G3378E,	Ichthyosis vulgaris, Autosomal dominant	.	0	1478	41	3	0	47	0.015651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.031	B	0.034	B	.	.	1.000	N	-0.18	N	5.32	T	-0.973	T	0.001	T	0.073	-0.218	2.946	0.936	0.077	-0.079	4.220	0.013	0.00458790294519	.	0.000998403	0.0019	9.61e-05	0.0005	0	0.0015	0.0013	0.0033	0.0074	0.000461	12	26028	rs572712926	0.0004	0.0013	0.0003	0.0004	0.0021	0.0003	0.0003	0.0018	0.0017	8.965e-05	0.0004	0.0003	0	0.0010	0.0021	0.0002	0.0004	0.0020	0.0007	0.0014	0.0007	0.0007	0.0026	0.0006	0.0006	0.0015	0.0012	0.0001	0	0.0010	0.0003	0	0.0009	0.0034	0.0009	0.0010	0.0026	0.958	0.02107	T	.	.	.	0.031	0.20130	B	0.034	0.22546	B	.	.	.	.	1	0.08975	N	-0.88	0.01436	N	5.32	0.01079	T	0.39	0.03521	N	0.033	0.00882	-0.9731	0.36540	T	0.001	0.00188	T	9	0.0062407255	0.00141	T	0.004588	0.11346	T	0.013	0.01715	.	.	0.115124310173	0.11017	0.005314283512494033	0.00502	.	.	0.290736794472	0.09030	T	0.014558	0.12369	T	-0.707857	0.00033	T	-0.802794	0.01833	T	0.00166803658036593	0.00017	T	0.338666	0.07278	T	0.03736391	0.04777	0.06571817	0.13359	0.03736391	0.04777	0.06571817	0.13359	-2.589	0.06420	T	.	.	0.078	0.06663	B	.	.	-0.258691	0.02805	0.385	0.55946745466822789	0.05448	0.00031	0.00285	N	AEFBI	0.016056	0.00339	N	-1.53434825808309	0.01628	0.07119062	-1.54400511015104	0.02017	0.09219377	1.2854531983775E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.08	0.936	0.18613	-0.174000	0.09830	.	.	-0.874000	0.02518	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3986:0.0:0.6014	4.220	0.10006	558	0.71484	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	890.98	33	chr1	152304753	.	C	T	890.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.269;DP=4609;ExcessHet=0.0000;FS=8.828;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.33;MQRankSum=-8.861e+00;QD=7.55;ReadPosRankSum=-2.083e+00;SOR=1.323	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:50,0:50:99:.:.:0,118,1800	20	0	1	0
chr1	152304765	152304765	T	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A10121G:p.D3374G,	Ichthyosis vulgaris, Autosomal dominant	.	0	1484	35	3	0	41	0.0136258	.	.	2352417	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.003	B	0.003	B	.	.	1.000	N	-2.535	N	5.49	T	-0.987	T	0.000	T	0.07	-0.139	3.321	-0.877	-0.528	.	0.440	0.044	0.00473787840188	.	.	0.0011	9.61e-05	0.0003	0	0.0008	0.0010	0.0011	0.0035	0.0001921	5	26028	rs753688433	0.0002	0.0010	0.0001	0.0002	0.0012	0.0002	0.0001	0.0009	0.0008	5.976e-05	0.0001	0.0002	0	0.0005	0.0012	8.284e-05	0.0003	0.0011	0.0004	0.0012	0.0004	0.0005	0.0019	0.0004	0.0003	0.0010	0.0008	0.0001	0	0.0006	0.0003	0	0.0004	0.0034	0.0005	0.0005	0.0019	1.0	0.00964	T	.	.	.	0.003	0.11197	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	-2.285	0.00100	N	5.49	0.00930	T	0.68	0.02228	N	0.047	0.01911	-0.9868	0.33396	T	0.000	0.00039	T	9	0.012164116	0.00262	T	0.004738	0.11816	T	0.044	0.11924	.	.	0.0806252709748	0.07271	0.01733273350379487	0.01688	.	.	0.264890789986	0.05488	T	0.015755	0.13153	T	-0.704715	0.00034	T	-0.820429	0.01444	T	0.00965315548901425	0.00126	T	0.348865	0.07732	T	0.022342669	0.00891	0.048453115	0.07201	0.022342669	0.00890	0.048453115	0.07200	1.714	0.00068	T	.	.	0.077	0.06525	B	.	.	-0.481773	0.01927	0.162	0.48126424217392599	0.03991	0.00023	0.00238	N	AEFBI	0.011980	0.00119	N	-1.87870017008546	0.00380	0.01631601	-1.81107222392347	0.00724	0.03227847	1.55066592889783E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.45	-0.877	0.10083	-0.743000	0.04950	.	.	-1.011000	0.01765	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1993:0.3416:0.1956:0.2635	0.440	0.00452	558	0.71484	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	575.98	33	chr1	152304765	.	T	C	575.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.488e+00;DP=4611;ExcessHet=0.0000;FS=3.224;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.17;MQRankSum=-8.796e+00;QD=4.88;ReadPosRankSum=-2.431e+00;SOR=0.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:50,0:50:99:.:.:0,118,1800	20	0	1	0
chr1	152306202	152306202	C	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G8684A:p.S2895N,	Ichthyosis vulgaris, Autosomal dominant	.	0	1518	4	0	0	4	0.00131579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.999	D	0.998	D	.	.	1.000	N	2.19	M	3.13	T	-1.070	T	0.027	T	0.08	1.038	9.241	1.27	0.181	0.697	5.966	0.037	0.00107624909101	.	.	6.688e-05	0	8.639e-05	0	0	0.0001	0	0	3.84e-05	1	26028	rs372777418	2.674e-05	3.081e-05	2.866e-05	2.48e-05	0.0003	2.002e-05	1.758e-05	6.096e-05	3.953e-05	0	0.0001	0	0	0	0.0003	2.248e-05	9.952e-05	0	4.824e-05	5.338e-05	4.047e-05	5.636e-05	8.818e-05	2.202e-05	1.587e-05	3.761e-05	2.575e-05	0	0	6.585e-05	0	0	0	0	8.818e-05	0	0	0.021	0.49117	D	.	.	.	0.999	0.77913	D	0.998	0.88582	D	.	.	.	.	1	0.08975	N	2.47	0.71715	M	3.13	0.08014	T	-1.13	0.29114	N	0.174	0.18649	-1.0704	0.09326	T	0.027	0.11574	T	9	0.21489269	0.38025	T	0.001076	0.01239	T	0.037	0.09474	0.433	0.48336	0.315314060047	0.31143	0.02345040539584384	0.02297	.	.	0.351606398821	0.18158	T	0.024679	0.18600	T	-0.481387	0.00726	T	-0.67421	0.07341	T	0.0673614762093186	0.08276	T	0.517648	0.16760	T	0.099454716	0.23471	0.08524934	0.19670	0.099454716	0.23471	0.08524934	0.19669	-10.415	0.76357	D	.	.	0.285	0.51712	B	.	.	1.597302	0.20426	14.74	0.72719342889917182	0.10072	0.02780	0.07486	N	AEFI	0.034454	0.04269	N	-0.274314383173656	0.30143	1.678051	-0.555023117440332	0.20673	1.114853	1.47713207541423E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.27	1.27	0.20595	0.799000	0.26688	.	.	0.424000	0.20830	0.006000	0.17386	0.000000	0.08366	0.061000	0.16044	0.0:0.7479:0.0:0.2521	5.966	0.18561	560	0.71333	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	5711.98	73	chr1	152306202	.	C	T	5711.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=5226;ExcessHet=0.0000;FS=1.339;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.98;MQRankSum=1.80;QD=4.85;ReadPosRankSum=-1.186e+00;SOR=0.608	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	20	0	1	0
chr1	152306286	152306286	A	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T8600G:p.I2867S,	Ichthyosis vulgaris, Autosomal dominant	.	1	1398	122	1	0	124	0.0424658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-2.39	N	4.44	T	-0.932	T	0.000	T	0.219	-0.051	3.752	-2.54	-0.039	-2.014	5.099	0.028	.	.	0.0139776	1.664e-05	0	0.0002	0	0	0	0	0	0.0026894	70	26028	rs562496957	0.0004	0.0017	0.0004	0.0004	0.0182	0.0004	0.0004	0.0169	0.0164	0.0182	0.0001	0	5.157e-05	0	0	4.499e-06	0.0002	4.649e-05	0.0001	0.0087	0.0001	0.0001	0.0007	8.399e-05	6.959e-05	0.0002	0.0001	0.0003	0	0.0003	0	0.0007	9.781e-05	0	1.508e-05	0	0	1.0	0.00964	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.695	0.00033	N	4.44	0.02139	T	1.22	0.01051	N	0.108	0.09349	-0.9320	0.43844	T	0.000	0.00114	T	9	0.005701959	0.00127	T	.	.	.	0.028	0.06331	.	.	0.0666544352282	0.05500	0.03254880392644141	0.03202	.	.	0.232478544116	0.02157	T	0.011277	0.10082	T	-0.338118	0.05519	T	-0.72346	0.04630	T	0.0612642933428966	0.07366	T	0.29767	0.05533	T	0.03513105	0.04077	0.070264496	0.14906	0.03513105	0.04077	0.070264496	0.14905	0.608	0.00192	T	.	.	0.072	0.04316	B	.	.	-0.356046	0.02382	0.263	0.50286818611689099	0.04358	0.00033	0.00296	N	AEFI	0.012106	0.00124	N	-1.93142500550348	0.00296	0.01268816	-1.86376335753537	0.00576	0.0255669	2.65845221984093E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.09	-2.54	0.05941	-0.796000	0.04680	.	.	-0.434000	0.05191	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3682:0.2705:0.3613:0.0	5.099	0.14083	561	0.71236	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.07143	2989.68	73	chr1	152306286	.	A	C	2989.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.179e+00;DP=10972;ExcessHet=0.3300;FS=0.960;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=53.22;MQRankSum=-8.047e+00;QD=0.95;ReadPosRankSum=6.54;SOR=0.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:62,0:62:99:.:.:0,120,1800	18	0	3	0
chr1	152306292	152306292	-	CC	exonic	FLG	.	frameshift insertion	FLG:NM_002016:exon3:c.8593_8594insGG:p.A2865Gfs*28,	Ichthyosis vulgaris, Autosomal dominant	.	0	1397	124	1	0	126	0.0431507	.	.	1019162	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1205280854	0.0003	0.0016	0.0004	0.0003	0.0150	0.0003	0.0003	0.0139	0.0134	0.0150	8.971e-05	0	5.141e-05	0	0	0	0.0001	3.488e-05	9.776e-05	0.0079	0.0001	8.565e-05	0.0006	5.861e-05	4.725e-05	0.0002	8.916e-05	0.0002	0	0.0002	0	0.0006	9.509e-05	0	1.482e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2642.64	73	chr1	152306292	.	G	GCC	2642.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.361e+00;DP=11022;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=53.58;MQRankSum=-8.171e+00;QD=0.82;ReadPosRankSum=6.68;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:62,0:62:99:.:.:0,120,1800	18	0	3	0
chr1	152306295	152306296	TG	-	exonic	FLG	.	frameshift deletion	FLG:NM_002016:exon3:c.8590_8591del:p.H2864Cfs*5,	Ichthyosis vulgaris, Autosomal dominant	.	1	1401	119	1	0	121	0.0413958	.	.	1019163	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1407703398	0.0003	0.0015	0.0003	0.0002	0.0132	0.0003	0.0003	0.0121	0.0117	0.0132	8.971e-05	0	2.574e-05	0	0	0	8.32e-05	3.487e-05	7.227e-05	0.0080	7.064e-05	7.397e-05	0.0005	3.847e-05	2.957e-05	8.069e-05	3.381e-05	0.0001	0	0.0001	0	0.0005	9.714e-05	0	1.499e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2402.64	73	chr1	152306294	.	ATG	A	2402.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.519e+00;DP=11062;ExcessHet=0.3300;FS=1.021;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=53.84;MQRankSum=-8.412e+00;QD=0.73;ReadPosRankSum=5.83;SOR=0.706	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:62,0:62:99:.:.:0,120,1800	18	0	3	0
chr1	152306299	152306299	T	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A8587T:p.T2863S,	Ichthyosis vulgaris, Autosomal dominant	.	1	1406	114	1	0	116	0.0396175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.477	P	0.241	B	.	.	1.000	N	0.85	L	4.7	T	-0.932	T	0.002	T	0.218	0.206	5.112	0.398	0.092	.	3.431	0.011	0.00815051428836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1271569013	0.0003	0.0015	0.0003	0.0002	0.0126	0.0003	0.0002	0.0116	0.0112	0.0126	8.971e-05	0	2.571e-05	0	0	4.498e-06	9.984e-05	1.162e-05	0.0002	0.0082	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0	0.0001	0	0.0005	9.694e-05	0	4.498e-05	0.0005	0	0.75	0.03587	T	.	.	.	0.477	0.36687	P	0.241	0.38645	B	.	.	.	.	1	0.08975	N	1.105	0.28596	L	4.7	0.01673	T	0.28	0.04233	N	0.048	0.01999	-0.9323	0.43799	T	0.002	0.00526	T	9	0.06755382	0.09427	T	0.008151	0.21598	T	0.011	0.01250	0.317	0.29419	0.162503812791	0.15892	0.035396750250694796	0.03486	.	.	0.270178943872	0.06164	T	0.009579	0.08713	T	-0.5121	0.00488	T	-0.68323	0.06789	T	0.0273883762299825	0.01600	T	0.216078	0.02692	T	0.025629967	0.01522	0.028810205	0.01152	0.025629967	0.01522	0.028810205	0.01152	-3.074	0.11000	T	.	.	0.090	0.12655	B	.	.	-0.112232	0.03568	0.691	0.56914044250386053	0.05655	0.01371	0.04680	N	AEFI	0.036336	0.04825	N	-0.963681291731912	0.09387	0.4441023	-1.1154303731441	0.07405	0.3600705	1.18193506777854E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.59	0.398	0.15542	-0.081000	0.11285	.	.	-1.396000	0.01145	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2327:0.0:0.7673	3.431	0.06999	561	0.71236	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.07143	2304.68	73	chr1	152306299	.	T	A	2304.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.859e+00;DP=11064;ExcessHet=0.3300;FS=1.018;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=54.16;MQRankSum=-8.642e+00;QD=0.70;ReadPosRankSum=5.14;SOR=0.747	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:62,0:62:99:.:.:0,120,1800	18	0	3	0
chr1	152306323	152306323	C	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G8563C:p.G2855R,	Ichthyosis vulgaris, Autosomal dominant	YES	0	1513	9	0	0	9	0.0029654	.	.	2360180	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.35	T	0.87	P	0.753	P	.	.	1.000	N	1.6	L	3.17	T	-0.985	T	0.014	T	0.206	0.981	9.006	1.03	-0.016	1.059	5.356	0.103	0.00746531922885	0.0002	0.000998403	0.0005	0	0.0004	0	0	0.0004	0.0022	0.0015	0.0004075	63	154602	rs373833125	0.0002	0.0003	0.0002	0.0003	0.0023	0.0002	0.0002	0.0013	0.0011	3.335e-05	0.0003	0	0	0	0.0023	0.0002	0.0006	0.0009	0.0003	0.0004	0.0003	0.0003	0.0010	0.0002	0.0002	0.0006	0.0004	2.934e-05	0	0.0009	0	0.0002	0	0.0034	0.0003	0.0010	0.0010	0.041	0.41915	D	.	.	.	0.87	0.47827	P	0.753	0.56122	P	.	.	.	.	1	0.08975	N	1.935	0.51832	L	3.17	0.07599	T	-0.24	0.10833	N	0.137	0.13484	-0.9845	0.33951	T	0.014	0.05369	T	9	0.010484487	0.00233	T	0.007465	0.19792	T	0.103	0.29403	0.637	0.77361	0.250579442822	0.24687	0.03192658727628576	0.03140	.	.	0.28669667244	0.08443	T	0.009238	0.08422	T	-0.554937	0.00272	T	-0.638727	0.09762	T	0.0435213031315912	0.04333	T	0.40156	0.10241	T	0.07462287	0.16760	0.084656484	0.19490	0.07462287	0.16759	0.084656484	0.19489	-7.013	0.54129	T	.	.	0.274	0.50790	B	.	.	0.578062	0.09464	6.244	0.92545119571005874	0.21993	0.03607	0.08838	N	AEFI	0.042527	0.06610	N	-0.520610287970705	0.21414	1.136289	-0.746298472828468	0.15813	0.8335285	1.36427774763999E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.02	1.03	0.19161	-0.040000	0.12056	.	.	0.418000	0.20770	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.7013:0.0:0.2987	5.356	0.15365	561	0.71236	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	5812.98	73	chr1	152306323	.	C	G	5812.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.760e+00;DP=11882;ExcessHet=0.0000;FS=1.212;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.85;MQRankSum=-2.260e-01;QD=6.05;ReadPosRankSum=0.509;SOR=0.800	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	20	0	1	0
chr1	152306427	152306427	G	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.C8459T:p.T2820I,	Ichthyosis vulgaris, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.061	B	0.018	B	.	.	1.000	N	2.35	M	4.68	T	-0.960	T	0.003	T	0.133	0.796	8.192	-2.04	-0.608	0.711	3.295	0.026	0.000719760882908	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1465525679	4.105e-06	6.841e-06	4.084e-06	4.126e-06	4.496e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.30515	T	.	.	.	0.061	0.23190	B	0.018	0.18489	B	.	.	.	.	1	0.08975	N	2.64	0.77224	M	4.68	0.01715	T	-0.88	0.23808	N	0.097	0.07811	-0.9596	0.39255	T	0.003	0.00897	T	9	0.0872162	0.14902	T	7.2E-4	0.00472	T	0.026	0.05648	0.362	0.36711	0.16115917748	0.15686	0.09577149920817929	0.09509	.	.	0.298369050026	0.10158	T	0.043592	0.26550	T	-0.299514	0.08706	T	-0.668008	0.07736	T	0.058892027736465	0.06993	T	0.524848	0.17228	T	0.04967819	0.08859	0.046018817	0.06320	0.04967819	0.08858	0.046018817	0.06320	-9.015	0.67794	D	.	.	0.355	0.56920	A	.	.	0.390213	0.07619	4.281	0.80796410261779272	0.13373	0.00796	0.03248	N	AEFI	0.026495	0.01998	N	-1.19410758923222	0.05089	0.2311648	-1.34672006186955	0.03844	0.1801708	2.01701730624555E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.08	-2.04	0.06937	-0.140000	0.10323	.	.	0.470000	0.21925	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2358:0.0:0.459:0.3052	3.295	0.06554	561	0.71236	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	4242.98	73	chr1	152306427	.	G	A	4242.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.746e+00;DP=6383;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=46.40;MQRankSum=2.70;QD=4.27;ReadPosRankSum=0.287;SOR=0.674	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	20	0	1	0
chr1	152308189	152308189	G	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.C6697T:p.P2233S,	Ichthyosis vulgaris, Autosomal dominant	.	0	1515	7	0	0	7	0.00230491	.	.	1212831	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	.	.	1.000	N	-0.965	N	4.3	T	-0.961	T	0.001	T	0.054	0.125	4.672	-1.57	-0.944	-0.683	4.148	0.004	.	.	0.0960463	0.0735	0.0496	0.1275	0.1747	0.0454	0.0408	0.0874	0.1412	0.0185185	482	26028	rs554101492	1.528e-05	0.0018	1.382e-05	1.675e-05	0.0003	1e-05	8.54e-06	0.0001	9.545e-05	0.0003	2.298e-05	3.949e-05	0.0002	0	0	9.052e-07	3.409e-05	1.173e-05	0.0003	0.0024	0.0003	0.0003	0.0012	0.0002	0.0002	0.0009	0.0008	0.0012	0	8.672e-05	0	0	0	0	1.605e-05	0.0006	0	1.0	0.00964	T	.	.	.	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-1.395	0.00601	N	4.3	0.02437	T	1.91	0.00451	N	0.008	0.00068	-0.9605	0.39087	T	0.001	0.00255	T	9	0.0018798709	0.00025	T	.	.	.	0.004	0.00165	.	.	.	.	0.029313450860666244	0.02880	.	.	0.304487228394	0.11073	T	0.01038	0.09377	T	-0.447237	0.01172	T	-0.880202	0.00652	T	2.24857303692261e-05	0.00000	T	0.319968	0.06445	T	0.027036702	0.01840	0.055778548	0.09847	0.027036702	0.01840	0.055778548	0.09846	-0.483	0.00573	T	.	.	0.060	0.00964	B	.	.	-0.885456	0.00951	0.037	0.47396621960842494	0.03872	0.00015	0.00188	N	AEFBI	0.011451	0.00102	N	-2.15348255860688	0.00097	0.004172051	-2.11798322117101	0.00170	0.007491309	2.09241646541864E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.89	-1.57	0.08055	-1.124000	0.03372	.	.	-1.524000	0.01001	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5225:0.1777:0.2998:0.0	4.148	0.09690	563	0.71062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	478.98	67	chr1	152308189	.	G	A	478.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.22;DP=5242;ExcessHet=0.0000;FS=9.398;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.87;MQRankSum=-1.976e+01;QD=0.89;ReadPosRankSum=-7.602e+00;SOR=2.018	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:83,0:83:99:.:.:0,120,1800	20	0	1	0
chr1	152308194	152308194	G	T	exonic	FLG	.	stopgain	FLG:NM_002016:exon3:c.C6692A:p.S2231X,	Ichthyosis vulgaris, Autosomal dominant	.	0	1515	7	0	0	7	0.00230491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	10.644	44	1.53	0.391	0.142	5.470	.	.	.	0.0960463	0.0738	0.0499	0.1290	0.1770	0.0452	0.0409	0.0874	0.1414	0.0185185	482	26028	rs536240526	4.279e-05	0.0025	4.326e-05	4.232e-05	0.0010	3.395e-05	3.077e-05	0.0007	0.0006	0.0010	4.667e-05	4.046e-05	0.0004	0	0	5.466e-06	0.0002	1.188e-05	0.0006	0.0029	0.0006	0.0006	0.0028	0.0005	0.0005	0.0022	0.0020	0.0028	0	0.0002	0	0	0	0	1.689e-05	0.0006	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.284	0.32148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336259	0.85584	D	0.245237	0.85395	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	5.828627	0.93730	33	0.94689239606745224	0.25331	0.01165	0.04195	N	AEFBI	0.017660	0.00478	N	-0.263201740900834	0.30579	1.706429	-0.647889126147857	0.18270	0.9752533	1.8516116629361E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.46	1.53	0.22224	0.240000	0.17822	.	.	-1.591000	0.00906	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1685:0.0:0.8315:0.0	5.470	0.15957	563	0.71062	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.02381	1017.98	67	chr1	152308194	.	G	T	1017.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.26;DP=5272;ExcessHet=0.0000;FS=12.310;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.80;MQRankSum=-1.890e+01;QD=1.79;ReadPosRankSum=-7.150e+00;SOR=1.860	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:83,0:83:99:.:.:0,120,1800	20	0	1	0
chr1	152308195	152308195	A	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T6691G:p.S2231A,	Ichthyosis vulgaris, Autosomal dominant	YES	0	1513	9	0	0	9	0.0029654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.81	T	0.001	B	0.013	B	.	.	1.000	N	-0.355	N	3.75	T	-0.970	T	0.001	T	0.056	-0.283	2.647	-5.35	-4.387	-3.551	6.785	0.020	.	.	0.0960463	0.0740	0.0504	0.1302	0.1788	0.0451	0.0409	0.0876	0.1417	0.0185185	482	26028	rs556324776	6.34e-05	0.0031	7.006e-05	5.667e-05	0.0013	5.246e-05	4.855e-05	0.0010	0.0009	0.0013	2.351e-05	4.081e-05	0.0005	0	0	1.918e-05	0.0002	1.197e-05	0.0007	0.0029	0.0007	0.0007	0.0031	0.0006	0.0005	0.0025	0.0023	0.0031	0	0.0003	0	0	0.0001	0	1.714e-05	0.0007	0	0.361	0.11882	T	.	.	.	0.001	0.07471	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	-0.165	0.04321	N	3.75	0.03922	T	-0.76	0.21215	N	0.008	0.00068	-0.9703	0.37136	T	0.001	0.00408	T	9	0.0016847253	0.00021	T	.	.	.	0.020	0.03691	.	.	.	.	0.023400691961431297	0.02292	.	.	0.250265181065	0.03796	T	0.01042	0.09410	T	-0.421068	0.01684	T	-0.842611	0.01060	T	0.0111847063957195	0.00164	T	0.113289	0.00862	T	0.049661875	0.08852	0.0466271	0.06541	0.049661875	0.08852	0.0466271	0.06541	-1.481	0.01726	T	.	.	0.07	0.03479	B	.	.	-0.108554	0.03590	0.701	0.38466588929725054	0.02596	0.00127	0.00790	N	AEFBI	0.024979	0.01634	N	-2.80467277842901	0.00003	0.0001331835	-2.84999607398235	0.00003	0.0001554434	0.937587305439055	0.27304	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.67	-5.35	0.02488	-0.933000	0.04067	.	.	-0.700000	0.04059	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3562:0.4539:0.1899:0.0	6.785	0.22854	563	0.71062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1095.98	67	chr1	152308195	.	A	C	1095.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.05;DP=5276;ExcessHet=0.0000;FS=9.755;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.76;MQRankSum=-1.912e+01;QD=1.91;ReadPosRankSum=-7.128e+00;SOR=1.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:83,0:83:99:.:.:0,120,1800	20	0	1	0
chr1	152308209	152308209	C	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G6677T:p.G2226V,	Ichthyosis vulgaris, Autosomal dominant	.	0	1511	11	0	0	11	0.00362677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.868	P	0.372	B	.	.	1.000	N	1.39	L	3.29	T	-0.974	T	0.005	T	0.196	-0.203	3.013	-1.95	-0.474	0.628	0.807	0.165	.	.	0.183307	0.0814	0.0632	0.1473	0.1924	0.0496	0.0461	0.0930	0.1461	0.0354234	922	26028	rs544807449	0.0005	0.0052	0.0005	0.0005	0.0130	0.0004	0.0004	0.0117	0.0113	0.0130	0.0008	0.0003	0.0046	0.0001	0.0013	5.441e-05	0.0017	0.0003	0.0018	0.0036	0.0016	0.0020	0.0088	0.0016	0.0015	0.0077	0.0072	0.0088	0	0.0005	0	0.0012	0.0004	0	5.587e-05	0.0015	0.0012	0.105	0.29823	T	.	.	.	0.868	0.47740	P	0.372	0.43610	B	.	.	.	.	1	0.08975	N	1.605	0.40863	L	3.29	0.06445	T	-2.19	0.49352	N	0.076	0.05037	-0.9736	0.36431	T	0.005	0.01578	T	9	0.0030772686	0.00051	T	.	.	.	0.165	0.42395	.	.	.	.	0.04323361185617763	0.04268	.	.	0.259808212519	0.04868	T	0.028284	0.20524	T	-0.29482	0.09157	T	-0.661265	0.08180	T	0.0260858363473376	0.01417	T	0.40156	0.10241	T	0.10558327	0.24963	0.10160429	0.24329	0.10558327	0.24963	0.10160429	0.24329	-6.387	0.49408	T	.	.	0.163	0.36053	B	.	.	0.777234	0.11474	8.076	0.62904335362991759	0.07083	0.02780	0.07486	N	AEFBI	0.039599	0.05774	N	-0.779306879523823	0.13850	0.6853526	-1.02305830469118	0.09279	0.460741	2.08373560863147E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.93	-1.95	0.07135	-0.009000	0.12703	.	.	0.291000	0.18778	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2337:0.3704:0.2307:0.1652	0.807	0.01016	563	0.71062	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	0	0	0.03333	2172.45	67	chr1	152308209	.	C	A	2172.45	.	AC=1;AF=0.033;AN=30;BaseQRankSum=5.86;DP=6163;ExcessHet=0.0000;FS=8.202;InbreedingCoeff=-0.1053;MLEAC=1;MLEAF=0.033;MQ=58.72;MQRankSum=-1.735e+01;QD=3.59;ReadPosRankSum=-6.881e+00;SOR=1.550	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:83,0:83:99:.:.:0,120,1800	14	0	1	6
chr1	152308212	152308212	A	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T6674C:p.V2225A,	Ichthyosis vulgaris, Autosomal dominant	.	0	1511	11	0	0	11	0.00362677	.	.	1245031	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.8	T	0.001	B	0.0	B	.	.	1.000	N	0.18	N	3.97	T	-0.929	T	0.002	T	0.121	-0.415	2.064	-0.944	-0.120	0.691	.	0.037	.	.	0.183307	0.0849	0.0676	0.1618	0.2071	0.0519	0.0475	0.0976	0.1499	0.0354234	922	26028	rs116918835	0.0009	0.0054	0.0009	0.0009	0.0197	0.0008	0.0008	0.0181	0.0175	0.0197	0.0013	0.0008	0.0076	0.0002	0.0014	0.0001	0.0026	0.0020	0.0022	0.0037	0.0020	0.0024	0.0108	0.0019	0.0018	0.0095	0.0090	0.0108	0	0.0006	0	0.0014	0.0004	0	7.611e-05	0.0008	0.0013	1.0	0.00964	T	.	.	.	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.18	0.09070	N	3.97	0.03326	T	0.73	0.02068	N	0.021	0.00339	-0.9292	0.44256	T	0.002	0.00526	T	8	0.0012171268	0.00013	T	.	.	.	0.037	0.09474	.	.	.	.	0.028666542745717876	0.02816	.	.	0.285316556692	0.08245	T	0.009382	0.08542	T	-0.378214	0.03197	T	-0.781055	0.02422	T	0.000276302609008336	0.00002	T	0.166283	0.01543	T	0.032984942	0.03429	0.09148293	0.21510	0.032984942	0.03429	0.09148293	0.21510	-4.226	0.27126	T	.	.	0.061	0.01075	B	.	.	-0.504175	0.01853	0.149	0.39177539384107868	0.02688	0.00100	0.00648	N	AEFBI	0.016280	0.00357	N	-1.58518500512031	0.01340	0.05839091	-1.65704622896125	0.01340	0.06047888	1.29783415351714E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	0.693	-0.944	0.09862	-1.778000	0.01875	.	.	-2.058000	0.00414	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	563	0.71062	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	0	0	0.03571	2358.0	67	chr1	152308212	.	A	G	2358.0	.	AC=1;AF=0.036;AN=28;BaseQRankSum=13.32;DP=6368;ExcessHet=0.0000;FS=11.396;InbreedingCoeff=-0.1200;MLEAC=1;MLEAF=0.036;MQ=58.74;MQRankSum=-1.694e+01;QD=3.84;ReadPosRankSum=-5.918e+00;SOR=1.727	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:83,0:83:99:.:.:0,120,1800	13	0	1	7
chr1	152308312	152308312	T	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A6574G:p.K2192E,	Ichthyosis vulgaris, Autosomal dominant	.	0	796	719	6	1	732	0.314679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-1.1	N	4.69	T	-0.977	T	0.001	T	0.055	0.459	6.492	1.99	-0.043	0.245	5.49	0.020	0.00691589360876	.	.	0.0001	0	0	0	0	7.497e-05	0.0011	0.0005	3.84e-05	1	26028	rs66954353	6.506e-05	6.501e-05	5.314e-05	7.711e-05	0.0003	5.434e-05	5.047e-05	0.0002	0.0001	0	0	0	0	0	0.0003	6.12e-05	6.632e-05	0.0002	3.965e-05	3.949e-05	5.161e-05	2.709e-05	8.841e-05	1.723e-05	1.135e-05	3.769e-05	2.58e-05	0	0	0	0	0	0	0	8.841e-05	0	0	0.358	0.11994	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.41	0.02942	N	4.69	0.01694	T	0.47	0.03090	N	0.081	0.05670	-0.9769	0.35705	T	0.001	0.00188	T	9	0.027516663	0.00896	T	0.006916	0.18289	T	0.020	0.03691	0.3	0.26683	0.130388298395	0.12655	0.016309325306619656	0.01586	.	.	0.271451950073	0.06331	T	0.020219	0.15960	T	-0.62899	0.00097	T	-0.830759	0.01249	T	0.0464902013553936	0.04873	T	0.277072	0.04771	T	0.060441438	0.12404	0.05331553	0.08958	0.060441438	0.12404	0.05331553	0.08957	-3.692	0.19200	T	.	.	0.087	0.11124	B	.	.	0.351483	0.07246	3.845	0.59927330293800163	0.06340	0.00148	0.00897	N	AEFBI	0.014498	0.00233	N	-1.55397975177907	0.01512	0.06600387	-1.49818149083929	0.02359	0.1083893	1.85635635730227E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.99	1.99	0.25423	-0.351000	0.07760	.	.	-1.790000	0.00639	0.000000	0.06391	0.004000	0.18990	0.000000	0.00833	0.0:0.2239:0.546:0.2301	5.49	0.16063	563	0.71062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	79746.79	67	chr1	152308312	.	T	G,C	79746.79	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=-5.400e-01;DP=8463;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3548;MLEAC=10,1;MLEAF=0.238,0.024;MQ=58.40;MQRankSum=-1.301e+01;QD=10.85;ReadPosRankSum=2.95;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:83,0,0:83:99:.:.:0,120,1800,120,1800,1800	10	0	10	0
chr1	152309401	152309401	A	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T5485C:p.Y1829H,	Ichthyosis vulgaris, Autosomal dominant	.	0	1518	4	0	0	4	0.00131579	.	.	3260887	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.91	T	0.003	B	0.005	B	.	.	1.000	N	-0.825	N	4.86	T	-0.966	T	0.001	T	0.069	-0.117	3.428	-1.43	-0.277	0.125	0.932	0.021	0.00489360673844	.	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs759893827	1.164e-05	0.0002	1.09e-05	1.238e-05	4.475e-05	7.09e-06	5.8e-06	7.42e-06	4.55e-06	2.99e-05	4.475e-05	0	0	0	0	1.08e-05	3.313e-05	0	6.623e-06	0.0007	1.295e-05	0	1.479e-05	0	0	.	.	0	0	0	0	0	0	0	1.479e-05	0	0	1.0	0.00964	T	.	.	.	0.003	0.11197	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	-1.44	0.00566	N	4.86	0.01459	T	1.37	0.00867	N	0.076	0.05037	-0.9664	0.37934	T	0.001	0.00188	T	9	0.029157966	0.01044	T	0.004894	0.12286	T	0.021	0.04004	0.272	0.22210	0.119812018005	0.11559	0.012340637113604397	0.01193	.	.	0.268244296312	0.05913	T	0.020386	0.16063	T	-0.457558	0.01018	T	-0.812162	0.01617	T	0.0706707157387162	0.08745	T	0.348165	0.07698	T	0.024092924	0.01207	0.03233845	0.01953	0.024092924	0.01207	0.03233845	0.01952	-0.555	0.00618	T	.	.	0.071	0.03887	B	.	.	-0.402336	0.02204	0.220	0.51086162983710293	0.04499	0.00208	0.01187	N	AEFBI	0.014728	0.00247	N	-1.58450181843118	0.01344	0.05854634	-1.57670397624381	0.01798	0.08187173	1.54626985065451E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.09	-1.43	0.08418	0.425000	0.21065	.	.	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2265:0.1768:0.4161:0.1807	0.932	0.01252	565	0.70868	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	91.98	67	chr1	152309401	.	A	G	91.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=6.95;DP=5092;ExcessHet=0.0000;FS=10.355;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.92;MQRankSum=-1.956e+01;QD=0.20;ReadPosRankSum=-5.060e+00;SOR=2.110	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:83,0:83:99:.:.:0,120,1800	20	0	1	0
chr1	152309431	152309431	A	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T5455C:p.S1819P,	Ichthyosis vulgaris, Autosomal dominant	.	0	1507	15	0	0	15	0.00495213	.	.	1164060	not_provided	MedGen:C3661900	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.963	D	0.702	P	.	.	1.000	N	1.32	L	3.81	T	-0.948	T	0.009	T	0.224	1.562	11.18	2.82	0.661	0.712	6.509	0.022	0.0042655887967	.	.	1.648e-05	0	0	0	0	1.498e-05	0	6.064e-05	3.84e-05	1	26028	rs754699295	5.971e-05	0.0028	5.519e-05	6.428e-05	0.0008	4.949e-05	4.563e-05	0.0006	0.0005	2.999e-05	2.261e-05	0.0001	0.0008	3.784e-05	0	3.365e-05	3.364e-05	0.0001	0.0008	0.0057	0.0007	0.0009	0.0035	0.0007	0.0006	0.0021	0.0017	0.0002	0.0012	0.0018	0.0003	0.0029	0.0002	0	0.0008	0.0005	0.0035	0.035	0.43708	D	.	.	.	0.963	0.55692	D	0.702	0.54226	P	.	.	.	.	1	0.08975	N	1.83	0.48079	L	3.81	0.03754	T	-2.99	0.62151	D	0.181	0.19593	-0.9475	0.41397	T	0.009	0.03315	T	9	0.09409812	0.16705	T	0.004266	0.10310	T	0.022	0.04323	.	.	0.333906830038	0.33007	0.0059005026785626	0.00559	.	.	0.276070654392	0.06950	T	0.08566	0.37551	T	-0.258639	0.13059	T	-0.609294	0.12041	T	0.335630357265472	0.26450	T	0.347365	0.07649	T	0.37962916	0.59289	0.29499885	0.55531	0.37962916	0.59290	0.29499885	0.55530	-6.129	0.47346	T	.	.	0.227	0.45942	B	.	.	2.071872	0.26345	17.09	0.94045235846636877	0.24169	0.02034	0.06095	N	AEFBI	0.054419	0.09892	N	-0.360126105977561	0.26901	1.471835	-0.544381783131769	0.20954	1.131363	4.64081277013022E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.0	2.82	0.32061	0.771000	0.26294	.	.	0.361000	0.20101	0.005000	0.17040	0.000000	0.08366	0.018000	0.11154	0.8853:0.0:0.1147:0.0	6.509	0.21409	565	0.70868	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.04762	3233.11	67	chr1	152309431	.	A	G	3233.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.70;DP=5169;ExcessHet=0.1072;FS=2.670;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.88;MQRankSum=-1.497e+01;QD=3.44;ReadPosRankSum=-3.803e+00;SOR=1.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:83,0:83:99:.:.:0,120,1800	19	0	2	0
chr1	152309635	152309635	T	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A5251G:p.T1751A,	Ichthyosis vulgaris, Autosomal dominant	.	0	1484	38	0	0	38	0.0126414	.	.	2758319	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.75	T	0.003	B	0.008	B	.	.	1.000	N	-0.245	N	4.4	T	-0.902	T	0.001	T	0.054	0.385	6.093	-7.86	-2.869	-4.455	0.643	0.022	0.00137596557186	.	0.000199681	0.0002	9.61e-05	8.637e-05	0.0003	0	0.0002	0	6.056e-05	0.0001423	22	154602	rs577966299	0.0001	0.0073	0.0001	0.0001	0.0005	0.0001	0.0001	0.0003	0.0003	0.0002	2.264e-05	0.0001	0.0005	1.894e-05	0.0002	0.0001	3.364e-05	0.0002	0.0006	0.0096	0.0007	0.0006	0.0022	0.0005	0.0005	0.0012	0.0009	0.0001	0.0012	0.0010	0	0.0010	0.0004	0.0035	0.0008	0.0010	0.0022	0.61	0.05468	T	.	.	.	0.003	0.11197	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-0.255	0.03828	N	4.4	0.02215	T	-0.24	0.10833	N	0.043	0.01577	-0.9024	0.47739	T	0.001	0.00222	T	9	0.015293419	0.00321	T	0.001376	0.01986	T	0.022	0.04323	0.063	0.00257	0.0666544352282	0.05500	0.010453316840408004	0.01006	.	.	0.21237513423	0.00916	T	0.01836	0.14816	T	-0.437997	0.01329	T	-0.866929	0.00772	T	0.0157041039026333	0.00362	T	0.221078	0.02846	T	0.019434154	0.00474	0.02615014	0.00689	0.019434154	0.00473	0.02615014	0.00689	-1.595	0.01970	T	.	.	0.069	0.03093	B	.	.	-1.585595	0.00247	0.004	0.3324786050692059	0.01970	0.00143	0.00871	N	AEFBI	0.017329	0.00447	N	-2.16345743713501	0.00092	0.003956945	-2.24016011655303	0.00091	0.003993062	0.149966739545292	0.17423	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.93	-7.86	0.01052	-4.573000	0.00246	.	.	-0.693000	0.04107	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3589:0.1539:0.1205:0.3667	0.643	0.00761	565	0.70868	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.04762	4242.11	40	chr1	152309635	.	T	C	4242.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.79;DP=5481;ExcessHet=0.1072;FS=0.751;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.85;MQRankSum=-1.750e+01;QD=3.63;ReadPosRankSum=-5.168e+00;SOR=0.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:83,0:83:99:.:.:0,120,1800	19	0	2	0
chr1	152310577	152310577	G	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.C4309T:p.R1437C,	Ichthyosis vulgaris, Autosomal dominant	.	0	1487	32	2	1	37	0.0119601	.	.	904369	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.999	D	0.635	P	.	.	1.000	N	2.39	M	4.65	T	-0.953	T	0.005	T	0.201	1.017	9.153	-0.934	0.063	-0.272	3.196	0.040	.	0.0043	0.00479233	0.0050	0.0008	0.0055	0.0001	0.0014	0.0062	0.0044	0.0061	0.0049353	763	154602	rs12750571	0.0060	0.0060	0.0058	0.0061	0.0248	0.0058	0.0058	0.0215	0.0202	0.0012	0.0051	0.0034	0.0001	0.0014	0.0248	0.0064	0.0063	0.0068	0.0048	0.0048	0.0049	0.0046	0.0070	0.0045	0.0044	0.0065	0.0063	0.0012	0.0264	0.0061	0.0046	0.0002	0.0014	0.0306	0.0070	0.0048	0.0064	0.014	0.53172	D	.	.	.	0.999	0.77913	D	0.635	0.51908	P	.	.	.	.	1	0.08975	N	2.86	0.83026	M	4.65	0.01779	T	-1.23	0.31170	N	0.266	0.30118	-0.9528	0.40485	T	0.005	0.01578	T	9	0.008905023	0.00202	T	.	.	.	0.040	0.10527	.	.	0.278968121808	0.27521	0.015595421109007294	0.01515	.	.	0.213625520468	0.00975	T	0.089724	0.38434	T	-0.578702	0.00196	T	-0.598915	0.12902	T	0.0278192646706579	0.01662	T	0.649435	0.26018	T	0.08136459	0.18690	0.043253686	0.05338	0.08136459	0.18690	0.043253686	0.05338	-10.485	0.76761	D	.	.	0.129	0.27553	B	.	.	1.880204	0.23884	16.19	0.97162728186922065	0.32638	0.01478	0.04921	N	AEFDBI	0.040004	0.05890	N	-0.569226267034253	0.19884	1.044184	-0.851837246202194	0.13244	0.6859478	1.30223998648331E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.84	-0.934	0.09897	0.417000	0.20934	.	.	-0.310000	0.06091	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1466:0.0:0.399:0.4544	3.196	0.06240	586	0.69252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	12148.11	40	chr1	152310577	.	G	A	12148.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=7.65;DP=5026;ExcessHet=0.1072;FS=0.523;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.96;MQRankSum=0.925;QD=13.25;ReadPosRankSum=-1.053e+00;SOR=0.626	GT:AD:DP:GQ:PL	0/0:83,0:83:99:0,120,1800	19	0	2	0
chr1	152310725	152310725	G	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.C4161A:p.H1387Q,	Ichthyosis vulgaris, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.889	P	0.424	B	.	.	1.000	N	1.52	L	3.78	T	-0.978	T	0.004	T	0.069	1.220	9.949	-3.39	-0.402	-3.275	1.060	0.038	0.00123307675472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.209e-06	8.209e-06	6.806e-06	9.625e-06	0.0003	4.38e-06	3.46e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	7.194e-06	3.311e-05	0	6.572e-06	6.562e-06	0	1.344e-05	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.013	0.53900	D	.	.	.	0.889	0.48869	P	0.424	0.45210	B	.	.	.	.	1	0.08975	N	2.14	0.59869	M	3.78	0.03836	T	0.04	0.06488	N	0.104	0.08786	-0.9780	0.35458	T	0.004	0.01159	T	9	0.10071981	0.18360	T	0.001233	0.01633	T	0.038	0.09825	0.327	0.31034	0.112648838833	0.10856	0.006649674495435494	0.00632	.	.	0.313453733921	0.12429	T	0.007323	0.06733	T	-0.36889	0.03650	T	-0.767662	0.02846	T	0.254253277179325	0.23062	T	0.377062	0.09013	T	0.07316139	0.16327	0.07220907	0.15551	0.07316139	0.16327	0.07220907	0.15551	-7.324	0.56366	T	.	.	0.242	0.47632	B	.	.	-0.012870	0.04196	1.019	0.75699281970958421	0.11176	0.00743	0.03099	N	AEFBI	0.045074	0.07329	N	-1.0417078442958	0.07751	0.3611162	-1.24976433418337	0.05135	0.243931	5.68992040908351E-5	0.04171	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.01	-3.39	0.04563	-4.592000	0.00243	.	.	0.475000	0.22001	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3914:0.1507:0.3043:0.1535	1.060	0.01498	587	0.69154	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	7391.98	40	chr1	152310725	.	G	T	7391.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.992e+00;DP=5541;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.93;MQRankSum=0.581;QD=12.42;ReadPosRankSum=0.212;SOR=0.674	GT:AD:DP:GQ:PL	0/0:83,0:83:99:0,120,1800	20	0	1	0
chr1	152311446	152311446	T	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A3440G:p.E1147G,	Ichthyosis vulgaris, Autosomal dominant	.	0	1515	6	1	0	8	0.00263331	.	.	1195862	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.3	T	0.001	B	0.002	B	.	.	1.000	N	2.295	M	6.22	T	-0.970	T	0.001	T	0.114	1.035	9.227	-6.37	-0.763	-1.372	4.579	0.020	0.00163556126932	0.0028	0.00119808	0.0021	0.0003	0.0011	0	0.0012	0.0030	0.0011	0.0023	0.0019728	305	154602	rs145475870	0.0028	0.0028	0.0028	0.0028	0.0029	0.0027	0.0027	0.0028	0.0028	0.0002	0.0014	0.0104	0	0.0009	0.0026	0.0029	0.0032	0.0024	0.0021	0.0021	0.0024	0.0019	0.0034	0.0020	0.0019	0.0030	0.0029	0.0004	0	0.0008	0.0112	0	0.0009	0.0034	0.0034	0.0038	0.0023	0.538	0.06847	T	.	.	.	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.49	0.37298	L	6.22	0.00570	T	0.43	0.03297	N	0.166	0.17553	-0.9703	0.37136	T	0.001	0.00318	T	9	0.005218327	0.00114	T	0.001636	0.02651	T	0.020	0.03691	.	.	0.112648838833	0.10856	0.026040268763220364	0.02555	.	.	0.237665683031	0.02584	T	0.014643	0.12428	T	-0.674151	0.00052	T	-0.745138	0.03678	T	0.00104015524372053	0.00010	T	0.315368	0.06236	T	0.03147295	0.02992	0.042114966	0.04942	0.03147295	0.02992	0.042114966	0.04941	-7.318	0.56323	T	.	.	0.138	0.30184	B	.	.	0.405814	0.07770	4.455	0.83139073754502302	0.14563	0.00424	0.02089	N	AEFGBI	0.028468	0.02513	N	-1.19945814060359	0.05009	0.2273578	-1.37916249859504	0.03475	0.1621651	0.00853338673045173	0.11694	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.45	-6.37	0.01790	-0.633000	0.05581	.	.	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3949:0.3169:0.2882	4.579	0.11646	590	0.68897	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	6205.98	40	chr1	152311446	.	T	C	6205.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.232e+00;DP=4480;ExcessHet=0.0000;FS=2.451;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.35;MQRankSum=2.51;QD=14.74;ReadPosRankSum=1.16;SOR=0.912	GT:AD:DP:GQ:PL	0/0:83,0:83:99:0,120,1800	20	0	1	0
chr1	152313392	152313392	C	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G1494C:p.E498D,	Ichthyosis vulgaris, Autosomal dominant	.	0	1519	2	1	0	4	0.00131492	.	.	1182788	not_provided|FLG-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.3	T	0.55	P	0.32	B	.	.	1.000	N	1.385	L	4.7	T	-0.934	T	0.002	T	0.039	0.626	7.365	-3.21	-0.335	0.628	1.148	0.097	.	0.0091	0.00678914	0.0024	0.0257	0.0010	0	0	8.99e-05	0.0022	6.056e-05	0.0022186	343	154602	rs13376095	0.0008	0.0008	0.0010	0.0007	0.0306	0.0008	0.0008	0.0291	0.0284	0.0306	0.0014	0	0	0	0.0021	3.328e-05	0.0015	4.637e-05	0.0074	0.0075	0.0077	0.0071	0.0261	0.0071	0.0069	0.0248	0.0243	0.0261	0	0.0023	0	0	0	0	1.471e-05	0.0043	0	0.104	0.29959	T	.	.	.	0.55	0.38124	P	0.32	0.41729	B	.	.	.	.	1	0.08975	N	1.52	0.38360	L	4.7	0.01673	T	-0.56	0.17003	N	0.106	0.09066	-0.9338	0.43575	T	0.002	0.00615	T	9	0.0029928088	0.00049	T	.	.	.	0.097	0.27909	0.14	0.04369	0.180583059064	0.17676	0.07340592082321702	0.07277	.	.	0.250814825296	0.03854	T	0.043806	0.26617	T	-0.756426	0.00016	T	-0.83838	0.01123	T	0.0160683168727286	0.00386	T	0.287571	0.05177	T	0.040496375	0.05791	0.052823875	0.08778	0.040496375	0.05790	0.052823875	0.08778	-8.267	0.62875	D	.	.	0.179	0.39012	B	.	.	-0.486927	0.01909	0.159	0.51324058698151331	0.04542	0.00865	0.03436	N	AEFBI	0.040450	0.06020	N	-1.10276389899643	0.06594	0.3039773	-1.28564853277061	0.04624	0.2185359	4.74699715789834E-5	0.03989	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.43	-3.21	0.04823	-2.932000	0.00753	.	.	-0.386000	0.05369	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.163:0.3004:0.3206:0.216	1.148	0.01671	588	0.69043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	5181.98	40	chr1	152313392	.	C	G	5181.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.865e+00;DP=4589;ExcessHet=0.0000;FS=1.103;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.99;MQRankSum=0.00;QD=11.89;ReadPosRankSum=-1.770e-01;SOR=0.618	GT:AD:DP:GQ:PL	0/0:83,0:83:99:0,120,1800	20	0	1	0
chr1	152352765	152352765	T	G	exonic	FLG2	.	nonsynonymous SNV	FLG2:NM_001014342:exon3:c.A5021C:p.H1674P,	.	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.917	P	0.348	B	.	.	1.000	N	2.05	M	3.05	T	-0.985	T	0.011	T	0.405	1.484	10.91	3.18	1.728	.	8.242	0.109	0.00109245991888	0.0027	.	0.0018	0.0003	0.0007	0	0.0002	0.0026	0	0.0019	0.0017141	265	154602	rs151207521	0.0028	0.0028	0.0028	0.0027	0.0033	0.0027	0.0027	0.0032	0.0031	0.0004	0.0014	0.0034	0	9.36e-05	0.0007	0.0033	0.0024	0.0017	0.0019	0.0019	0.0020	0.0018	0.0037	0.0018	0.0017	0.0030	0.0027	0.0007	0	0.0037	0.0029	0	0	0	0.0028	0.0029	0.0002	0.005	0.63226	D	0.086	0.40909	T	0.917	0.50750	P	0.348	0.42747	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	3.05	0.08721	T	-3.42	0.67241	D	0.283	0.32037	-0.9846	0.33927	T	0.011	0.04181	T	9	0.012544274	0.00269	T	0.001092	0.01287	T	0.109	0.30843	.	.	0.297375071883	0.29337	0.037799850848679935	0.03725	0.241955391217	0.26711	0.264546215534	0.05444	T	0.027056	0.19894	T	-0.525608	0.00408	T	-0.531767	0.19111	T	0.0423269247522343	0.04114	T	0.267973	0.04452	T	0.30340046	0.53208	0.19751173	0.43536	0.30340046	0.53208	0.19751173	0.43535	-9.048	0.68006	D	.	.	0.177	0.38623	B	.	.	1.353119	0.17613	13.27	0.67233467695728	0.08293	0.16344	0.19345	N	AEFBCI	0.053908	0.09755	N	-0.404544111695739	0.25309	1.372964	-0.579637068127529	0.20024	1.077018	3.11811282865166E-4	0.06498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.18	3.18	0.35615	0.177000	0.16615	.	.	0.562000	0.28470	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	8.242	0.30829	564	0.70960	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	8960.98	34	chr1	152352765	.	T	G	8960.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.32;DP=2433;ExcessHet=0.0000;FS=1.088;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.45;ReadPosRankSum=-3.490e-01;SOR=0.642	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	20	0	1	0
chr1	152354832	152354832	G	C	exonic	FLG2	.	nonsynonymous SNV	FLG2:NM_001014342:exon3:c.C2954G:p.S985C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.997	D	0.79	P	.	.	1.000	N	2.36	M	2.76	T	-1.069	T	0.026	T	0.228	1.300	10.25	1.57	0.017	0.397	4.873	0.024	0.00434087370279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.006	0.70582	D	0.997	0.70673	D	0.79	0.57710	P	.	.	.	.	1	0.08975	N	2.69	0.78713	M	2.76	0.11515	T	-3.21	0.64826	D	0.082	0.05799	-1.0687	0.09701	T	0.026	0.11309	T	9	0.19461748	0.35280	T	0.004341	0.10561	T	0.024	0.04979	0.246	0.18139	0.276065633971	0.27208	0.16649047087105345	0.16569	0.0253654636143	0.02589	0.445481717587	0.31327	T	0.024205	0.18336	T	-0.245215	0.14691	T	-0.590011	0.13664	T	0.30915780360473	0.25380	T	0.19598	0.02159	T	0.09617293	0.22649	0.07580456	0.16726	0.09617293	0.22648	0.07580456	0.16725	-10.656	0.77738	D	.	.	0.160	0.35456	B	.	.	0.875669	0.12489	9.018	0.91487656167451903	0.20760	0.09104	0.14926	N	AEFDBCI	0.055798	0.10264	N	-0.249248673456749	0.31133	1.742717	-0.498802038893078	0.22187	1.203857	1.61280483533666E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.43	1.57	0.22490	0.050000	0.14004	.	.	0.650000	0.52971	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.1057:0.0:0.5391:0.3551	4.873	0.12999	562	0.71143	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	7560.98	629	chr1	152354832	.	G	C	7560.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.998e+00;DP=3245;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.02;ReadPosRankSum=1.77;SOR=0.711	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	20	0	1	0
chr1	152356170	152356170	C	T	exonic	FLG2	.	nonsynonymous SNV	FLG2:NM_001014342:exon3:c.G1616A:p.R539H,	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.975	D	0.284	B	.	.	1.000	N	0	N	1.96	T	-1.002	T	0.009	T	0.053	1.300	10.25	2.17	0.481	0.590	8.220	0.062	0.00224247427571	7.7e-05	0.000399361	0.0001	9.61e-05	0	0.0001	0	8.99e-05	0	0.0003	0.0001035	16	154602	rs146826451	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0.0002	0	7.652e-05	0	0	0	0.0002	6.623e-05	0.0002	0.0001	0.0001	0.0001	8.073e-05	0.0008	6.517e-05	5.327e-05	0.0003	0.0002	7.235e-05	0	0	0	0.0002	0	0	0.0001	0	0.0008	0.128	0.26965	T	0.143	0.33219	T	0.975	0.58077	D	0.284	0.40463	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	1.96	0.22270	T	-0.52	0.16187	N	0.039	0.01274	-1.0018	0.29401	T	0.009	0.03359	T	9	0.02932924	0.01060	T	0.002242	0.04260	T	0.062	0.17934	.	.	0.224531998449	0.22054	0.06418679163347962	0.06357	0.0286366123003	0.02943	0.328885793686	0.14765	T	0.003125	0.02525	T	-0.55522	0.00271	T	-0.734988	0.04104	T	0.0329353256251841	0.02460	T	0.251575	0.03811	T	0.050055444	0.08985	0.045501113	0.06137	0.050055444	0.08984	0.045501113	0.06136	-2.002	0.03188	T	.	.	0.126	0.26794	B	.	.	1.827714	0.23222	15.93	0.82664128083105082	0.14310	0.11278	0.16527	N	AEFBCI	0.041804	0.06403	N	-0.636574827861413	0.17854	0.9222309	-0.759071453587636	0.15499	0.8154612	4.65471546857082E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.12	2.17	0.26736	0.417000	0.20934	.	.	0.429000	0.20894	0.091000	0.22601	0.000000	0.08366	0.807000	0.38039	0.0:0.8723:0.0:0.1277	8.220	0.30699	565	0.70868	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	12060.98	195	chr1	152356170	.	C	T	12060.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.79;DP=3618;ExcessHet=0.0000;FS=1.745;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.11;ReadPosRankSum=1.35;SOR=0.880	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	20	0	1	0
chr1	152623066	152623066	G	A	exonic	LCE3A	.	nonsynonymous SNV	LCE3A:NM_178431:exon1:c.C38T:p.P13L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	1.0	D	0.903	P	.	.	1.000	N	.	.	2.63	T	-1.035	T	0.023	T	0.328	-0.425	2.020	2.26	0.630	0.204	7.996	0.066	0.00187651565016	.	.	.	.	.	.	.	.	.	.	.	.	.	rs757420029	2.052e-06	2.052e-06	1.361e-06	2.75e-06	2.236e-05	5.5e-07	1.5e-07	.	.	0	2.236e-05	3.826e-05	0	0	0	0	0	1.159e-05	6.569e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.2	0.20381	T	0.052	0.47581	T	1.0	0.90584	D	0.903	0.64103	P	.	.	.	.	0.999991	0.08975	N	.	.	.	2.63	0.12884	T	-5.06	0.82764	D	0.269	0.30461	-1.0348	0.18920	T	0.023	0.09787	T	8	0.25301987	0.42664	T	0.001877	0.03299	T	0.066	0.19193	0.197	0.10975	0.471132149292	0.46741	0.08448989595790668	0.08382	0.0739716736363	0.08289	0.305277705193	0.11193	T	0.25802	0.62913	T	-0.237378	0.15684	T	-0.578754	0.14655	T	0.308939248323441	0.25371	T	0.343766	0.07508	T	0.039814927	0.05566	0.07069628	0.15051	0.039814927	0.05566	0.07069628	0.15051	-5.806	0.44626	T	.	.	0.141	0.31023	B	.	.	0.883569	0.12567	9.096	0.78303717347894308	0.12242	0.10561	0.16033	N	AEFBCIJ	0.035463	0.04571	N	-0.308215574824777	0.28835	1.593829	-0.523738895749175	0.21509	1.163916	0.99880609276447	0.37711	0.500041	0.20204	0	0.624306	0.53593	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.23	2.26	0.27418	0.363000	0.20037	.	.	-0.138000	0.12486	0.200000	0.24308	0.000000	0.08366	0.016000	0.10718	0.0:0.27:0.73:0.0	7.996	0.29428	783	0.47268	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1990.98	35	chr1	152623066	.	G	A	1990.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=861;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.01;ReadPosRankSum=-1.368e+00;SOR=0.747	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1482	20	0	1	0
chr1	152719994	152719994	T	-	exonic	C1orf68	.	frameshift deletion	C1orf68:NM_001024679:exon1:c.473delT:p.V158Afs*23,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3587.94	35	chr1	152719993	.	GT	G	3587.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.441;DP=2757;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.89;ReadPosRankSum=1.33;SOR=0.711	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:189,0:189:99:.:.:0,120,1800	20	0	1	0
chr1	152760522	152760522	C	T	exonic	KPRP	.	nonsynonymous SNV	KPRP:NM_001025231:exon2:c.C934T:p.R312C,	.	.	426	1094	1	0	1	2	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.005	B	0.004	B	0.100	N	1.000	N	0.55	N	2.36	T	-0.936	T	0.010	T	0.045	1.050	9.290	-8.26	-1.006	-0.771	9.349	0.033	.	0.0053	0.00479233	0.0017	0.0180	0.0011	0	0	3.004e-05	0	0	0.0015524	240	154602	rs140912923	0.0005	0.0005	0.0006	0.0004	0.0189	0.0005	0.0005	0.0177	0.0172	0.0189	0.0008	0	0	0	0.0010	1.799e-05	0.0009	3.478e-05	0.0053	0.0053	0.0057	0.0049	0.0186	0.0050	0.0049	0.0175	0.0171	0.0186	0	0.0012	0	0	0	0.0034	2.94e-05	0.0047	0.0002	.	.	.	0.076	0.42614	T	0.005	0.12996	B	0.004	0.10090	B	0.100084	0.02539	N	1.822830	1	0.08975	N	1.935	0.51832	L	.	.	.	.	.	.	0.139	0.13769	-0.9362	0.43211	T	0.010	0.03492	T	10	0.0031962097	0.00054	T	.	.	.	.	.	.	.	0.146414634003	0.14194	0.1735743323120826	0.17277	.	.	0.279063463211	0.07362	T	0.006336	0.05774	T	-0.689574	0.00042	T	-0.747707	0.03576	T	0.00386149244982339	0.00041	T	0.509649	0.16214	T	0.066476375	0.14306	0.034789033	0.02610	0.066476375	0.14306	0.034789033	0.02610	-6.316	0.48848	T	.	.	0.231	0.46401	B	.	.	1.310272	0.17132	12.98	0.94962909798314921	0.25882	0.01036	0.03877	N	AEFDBI	0.061282	0.11703	N	-1.46851895333485	0.02075	0.09126788	-1.56652383873593	0.01864	0.0849831	0.999999946317396	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.3	-8.26	0.00895	-0.778000	0.04770	.	.	-0.184000	0.09925	0.000000	0.06391	0.001000	0.17328	0.005000	0.06747	0.1476:0.6376:0.1235:0.0913	9.349	0.37291	729	0.54495	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	4152.98	40	chr1	152760522	.	C	T	4152.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.96;DP=3220;ExcessHet=0.0000;FS=0.427;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.27;ReadPosRankSum=0.666;SOR=0.744	GT:AD:DP:GQ:PL	0/0:194,0:194:99:0,120,1800	20	0	1	0
chr1	152761247	152761247	-	C	exonic	KPRP	.	frameshift insertion	KPRP:NM_001025231:exon2:c.1660dupC:p.R554Pfs*31,	.	.	414	1089	19	0	0	19	0.00864816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0026	0.00279553	0.0020	0.0006	0.0014	0	0.0005	0.0018	0.0022	0.0060	0.000461	12	26028	rs545233716	0.0024	0.0024	0.0022	0.0026	0.0065	0.0023	0.0023	0.0060	0.0058	0.0006	0.0016	0.0003	2.519e-05	0.0002	0.0062	0.0023	0.0029	0.0065	0.0015	0.0015	0.0016	0.0014	0.0064	0.0013	0.0013	0.0046	0.0040	0.0005	0	0.0017	0.0003	0.0002	0.0003	0	0.0020	0.0038	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3294.07	40	chr1	152761247	.	G	GC	3294.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.75;DP=988;ExcessHet=0.1072;FS=1.744;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.84;ReadPosRankSum=1.14;SOR=0.557	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1366	19	0	2	0
chr1	152787487	152787487	G	A	exonic	LCE1E	.	nonsynonymous SNV	LCE1E:NM_178353:exon2:c.G188A:p.S63N,	.	.	413	1093	16	0	0	16	0.00726612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.968	D	0.969	D	.	.	1.000	N	2.23	M	3.81	T	-1.033	T	0.018	T	0.138	0.871	8.532	1.06	0.132	1.313	4.471	0.099	.	0.0012	0.00279553	0.0020	0.0010	0.0018	0.0002	0.0005	0.0016	0.0022	0.0060	0.0017335	268	154602	rs200257409	0.0020	0.0024	0.0018	0.0021	0.0061	0.0019	0.0019	0.0056	0.0055	0.0007	0.0020	0.0003	0.0001	0.0002	0.0054	0.0018	0.0025	0.0061	0.0016	0.0016	0.0017	0.0015	0.0065	0.0014	0.0014	0.0047	0.0041	0.0009	0	0.0019	0.0003	0.0002	0.0002	0	0.0020	0.0038	0.0065	.	.	.	0.107	0.37730	T	0.968	0.56581	D	0.969	0.72001	D	.	.	.	.	0.999971	0.18612	N	1.675	0.43121	L	3.81	0.03754	T	-1.18	0.30140	N	0.288	0.37301	-1.0328	0.19554	T	0.018	0.07282	T	9	0.0080218315	0.00182	T	.	.	.	0.099	0.28413	.	.	0.264081493735	0.26024	0.015214046080580437	0.01477	0.00466472633039	0.00412	.	.	.	0.005115	0.04549	T	-0.597095	0.00152	T	-0.631935	0.10268	T	0.0298606214996596	0.01968	T	0.224478	0.05429	T	0.46671456	0.65088	0.2339394	0.48597	0.46671456	0.65089	0.2339394	0.48596	-7.42	0.57045	T	.	.	0.167	0.39237	B	.;.;.	.;.;.	2.070882	0.26331	17.08	0.68721087988848728	0.08746	0.67275	0.33374	D	AEFBI	0.063968	0.12395	N	0.10584978004884	0.46736	2.909403	-0.0212012914995712	0.38759	2.288167	6.49158064363091E-4	0.07527	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.07	1.06	0.19341	1.326000	0.33341	.	.	0.563000	0.28513	0.971000	0.34370	0.824000	0.27153	0.982000	0.59238	0.1358:0.2301:0.6341:0.0	4.471	0.11133	799	0.44747	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1481.11	34	chr1	152787487	.	G	A	1481.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.480;DP=1163;ExcessHet=0.1072;FS=1.418;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=55.84;MQRankSum=-3.159e+00;QD=10.43;ReadPosRankSum=1.09;SOR=0.884	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,102,1530	19	0	2	0
chr1	152827648	152827648	G	T	exonic	LCE1A	.	nonsynonymous SNV	LCE1A:NM_178348:exon1:c.G176T:p.G59V,	.	.	429	1083	10	0	0	10	0.00459559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.252	B	0.065	B	0.002	N	0.512	N	0.345	N	4.05	T	-0.921	T	0.004	T	0.247	1.405	10.63	4.33	2.396	4.241	12.484	0.053	.	0.0048	0.00279553	0.0071	0.0006	0.0026	0	0.0198	0.0077	0.0078	0.0099	0.0066299	1025	154602	rs137886860	0.0064	0.0064	0.0061	0.0066	0.0107	0.0062	0.0062	0.0102	0.0099	0.0005	0.0020	0.0027	2.519e-05	0.0181	0.0024	0.0062	0.0056	0.0107	0.0062	0.0063	0.0060	0.0065	0.0084	0.0059	0.0058	0.0078	0.0076	0.0010	0.0537	0.0026	0.0029	0.0002	0.0176	0.0034	0.0084	0.0047	0.0083	.	.	.	0.037	0.51737	D	0.252	0.31228	B	0.065	0.27321	B	0.001619	0.38497	N	0.000000	0.511832	0.31641	N	0.975	0.24501	L	4.05	0.03092	T	0.1	0.05810	N	0.327	0.36779	-0.9207	0.45458	T	0.004	0.01261	T	10	0.0056049526	0.00124	T	.	.	.	0.053	0.14996	.	.	0.42573502686	0.42190	0.02000986391656538	0.01953	0.00632469907816	0.00551	.	.	.	0.013973	0.11984	T	-0.551778	0.00285	T	-0.555972	0.16757	T	0.0141190291080568	0.00276	T	.	.	.	0.28463754	0.51490	0.29991361	0.56025	0.28463754	0.51490	0.29991361	0.56024	-8.34	0.63364	D	.	.	0.139	0.30423	B	.	.	2.033724	0.25852	16.91	0.92754091606875322	0.22261	0.96048	0.67297	D	AEFBI	0.289958	0.40147	N	-0.0558428762478233	0.39341	2.318482	0.0934079522935043	0.44217	2.707679	0.0109707312120962	0.12109	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.33	4.33	0.51083	4.706000	0.61534	.	.	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.124000	0.19330	0.0:0.0:1.0:0.0	12.484	0.55203	761	0.50382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1043.98	37	chr1	152827648	.	G	T	1043.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.478;DP=765;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.92;ReadPosRankSum=-8.430e-01;SOR=0.760	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1252	20	0	1	0
chr1	152910295	152910354	AGAGCAGCAGGAGGGACAGCTGAAGCACCCGGAGCAGCAGGAGGGGCAGCTGGAGCTCCC	-	exonic	IVL	.	nonframeshift deletion	IVL:NM_005547:exon2:c.498_557del:p.K174_L193del,	.	.	406	1113	2	0	1	3	0.000897666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0018	0.0015	0.0017	0.0033	0.0016	0.0015	0.0022	0.0018	0.0004	0.0012	0.0034	2.528e-05	0.0014	0.0033	0.0016	0.0024	0.0017	0.0033	0.0036	0.0033	0.0033	0.0054	0.0030	0.0029	0.0044	0.0040	0.0010	0	0.0054	0.0042	0	0.0010	0.0041	0.0046	0.0047	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1076.94	34	chr1	152910294	.	TAGAGCAGCAGGAGGGACAGCTGAAGCACCCGGAGCAGCAGGAGGGGCAGCTGGAGCTCCC	T	1076.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.530;DP=836;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.80;MQRankSum=1.22;QD=14.96;ReadPosRankSum=-3.220e-01;SOR=0.804	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1219	20	0	1	0
chr1	152910296	152910325	GAGCAGCAGGAGGGACAGCTGAAGCACCCG	-	exonic	IVL	.	nonframeshift deletion	IVL:NM_005547:exon2:c.499_528del:p.K174_L183del,	.	.	397	1101	22	0	2	24	0.00989209	.	.	696107	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0146	.	0.0039	0.0017	0.0030	0	0.0020	0.0053	0.0028	0.0032	0.0009989	26	26028	rs772656711	0.0018	0.0019	0.0016	0.0020	0.0068	0.0017	0.0017	0.0051	0.0045	0.0004	0.0019	0.0031	5.041e-05	0.0020	0.0068	0.0017	0.0029	0.0021	0.0060	0.0068	0.0064	0.0056	0.0091	0.0057	0.0056	0.0085	0.0083	0.0019	0	0.0074	0.0061	0	0.0030	0.0106	0.0091	0.0107	0.0049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1129.03	34	chr1	152910295	.	AGAGCAGCAGGAGGGACAGCTGAAGCACCCG	A,*	1129.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.98;DP=887;ExcessHet=0.1072;FS=2.096;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=59.49;MQRankSum=-1.796e+00;QD=7.24;ReadPosRankSum=1.02;SOR=0.501	GT:AD:DP:GQ:PL	0/0:34,0,0:34:99:0,102,1219,102,1219,1219	19	0	1	0
chr1	152910295	152910325	AGAGCAGCAGGAGGGACAGCTGAAGCACCCG	0	exonic	IVL	.	.	.	.	.	397	1101	22	0	2	24	0.00989209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1129.03	34	chr1	152910295	.	AGAGCAGCAGGAGGGACAGCTGAAGCACCCG	A,*	1129.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.98;DP=887;ExcessHet=0.1072;FS=2.096;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=59.49;MQRankSum=-1.796e+00;QD=7.24;ReadPosRankSum=1.02;SOR=0.501	GT:AD:DP:GQ:PL	0/0:34,0,0:34:99:0,102,1219,102,1219,1219	19	0	1	0
chr1	152910506	152910506	C	0	exonic	IVL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	10818.93	25	chr1	152910506	.	C	CAGCAGCAGGAGGGGCAGCTGGAGCTCTCTG,G,*	10818.93	.	AC=18,2,2;AF=0.474,0.053,0.053;AN=38;BaseQRankSum=-2.960e-01;DP=998;ExcessHet=1.5433;FS=1.193;InbreedingCoeff=-0.0466;MLEAC=19,2,2;MLEAF=0.500,0.053,0.053;MQ=55.69;MQRankSum=0.00;QD=23.78;ReadPosRankSum=-1.521e+00;SOR=0.793	GT:AD:DP:GQ:PL	./.:35,0,0,0:35:0:0,0,586,0,586,586,0,586,586,586	3	4	8	2
chr1	153003387	153003387	A	C	exonic	SPRR3	.	nonsynonymous SNV	SPRR3:NM_001097589:exon2:c.A367C:p.I123L	.	.	.	.	.	.	.	.	.	.	.	2256086	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	0.076	B	0.08	B	.	.	1.000	N	0.69	N	2.79	T	-0.898	T	0.006	T	0.318	1.789	11.94	-9.19	-1.588	-0.453	7.229	0.021	0.0101778520735	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372343205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.119	0.31235	T	0.39	0.17804	T	0.076	0.24253	B	0.038	0.23361	B	.	.	.	.	1	0.08975	N	1.245	0.31408	L	2.79	0.11189	T	-0.15	0.09297	N	0.204	0.23380	-0.8976	0.48234	T	0.006	0.01944	T	9	0.10499829	0.19386	T	0.010178	0.26412	T	0.021	0.04004	0.384	0.40298	0.192905019026	0.18896	0.005438126425422563	0.00514	7.12783148257E-4	0.00066	0.224216341972	0.01567	T	0.004989	0.04418	T	-0.257239	0.13225	T	-0.607282	0.12207	T	0.124512065962157	0.14865	T	0.271273	0.04975	T	0.1270363	0.29739	0.08171538	0.18592	0.1270363	0.29739	0.08171538	0.18591	-6.045	0.46654	T	.	.	0.081	0.08272	B	.;.;.	.;.;.	0.330653	0.07045	3.611	0.78781005355514477	0.12449	0.00323	0.01694	N	AEFGBI	0.025021	0.01644	N	-1.32728282979546	0.03366	0.1502571	-1.47804364072223	0.02525	0.1162784	0.743178370890394	0.23244	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.6	-9.19	0.00583	-0.538000	0.06209	.	.	0.665000	0.62972	0.000000	0.06391	0.002000	0.18203	0.014000	0.10232	0.2563:0.4253:0.0:0.3184	7.229	0.25208	800	0.44535	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2637.98	116	chr1	153003387	.	A	C	2637.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=2969;ExcessHet=0.0000;FS=0.484;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=-1.453e+00;SOR=0.732	GT:AD:DP:GQ:PL	0/0:175,0:175:99:0,120,1800	20	0	1	0
chr1	153070728	153070728	G	A	exonic	SPRR2B	.	nonsynonymous SNV	SPRR2B:NM_001017418:exon2:c.C112T:p.P38S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.003	N	0.997	N	.	.	1.47	T	-1.049	T	0.111	T	0.372	2.233	13.43	3.73	1.766	1.250	11.362	0.087	0.00516385530096	.	.	0.0001	0	0	0	0	0.0002	0	7.747e-05	3.84e-05	1	26028	rs550805368	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	8.984e-05	2.239e-05	0.0004	0	1.875e-05	0	0.0001	0.0001	9.309e-05	0.0001	0.0001	0.0001	6.766e-05	0.0002	6.55e-05	5.354e-05	0.0001	9.942e-05	2.422e-05	0	0	0.0003	0	0	0	0.0002	0	0	.	.	.	0.026	0.55759	D	1.0	0.90584	D	0.998	0.88582	D	0.003425	0.34958	N	0.000000	0.996513	0.22991	N	.	.	.	1.47	0.31987	T	-4.0	0.74051	D	0.357	0.39861	-1.0487	0.14761	T	0.111	0.39935	T	9	0.19854164	0.35829	T	0.005164	0.13125	T	0.087	0.25287	0.133	0.03747	0.501060295512	0.49743	0.007124582389937142	0.00679	.	.	.	.	.	0.103146	0.41153	T	-0.312091	0.07566	T	-0.449405	0.27763	T	0.332092344760895	0.26308	T	0.382662	0.09313	T	0.5695518	0.71036	0.51406467	0.71922	0.5695518	0.71037	0.51406467	0.71922	-8.065	0.61513	D	.	.	0.125	0.26451	B	.	.	2.117272	0.26951	17.29	0.86087317848117861	0.16305	0.32842	0.24684	N	AEFI	0.048673	0.08329	N	0.124318779201524	0.47599	2.98337	-0.0285852431560344	0.38428	2.263977	0.00254640962581461	0.09519	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.73	3.73	0.41982	1.496000	0.35246	0.514000	0.19106	0.499000	0.22661	0.798000	0.29695	0.016000	0.20520	0.937000	0.47636	0.0:0.0:1.0:0.0	11.362	0.48886	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	378.98	35	chr1	153070728	.	G	A	378.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.766;DP=785;ExcessHet=0.0000;FS=39.310;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=45.40;MQRankSum=-3.895e+00;QD=4.80;ReadPosRankSum=-1.587e+00;SOR=5.659	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1182	20	0	1	0
chr1	153345352	153345352	G	C	exonic	PGLYRP4	.	nonsynonymous SNV	PGLYRP4:NM_020393:exon4:c.C170G:p.S57C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.975	D	.	.	1.000	N	0.975	L	1.8	T	-1.096	T	0.048	T	0.283	2.162	13.19	2.21	0.615	2.320	7.246	0.068	0.00660655548279	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1200175709	3.42e-06	3.42e-06	1.361e-06	5.5e-06	5.974e-05	1e-06	7.3e-07	9.89e-06	3.7e-06	5.974e-05	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.002	0.79402	D	1.0	0.90584	D	0.944	0.73362	D	.	.	.	.	0.999999	0.08975	N	2.28	0.64929	M	1.8	0.25344	T	-1.75	0.48687	N	0.444	0.55106	-1.0958	0.04639	T	0.048	0.20553	T	9	0.3948355	0.55151	T	0.006607	0.17444	T	0.068	0.19811	0.483	0.56462	0.496036935653	0.49239	0.3656607908325012	0.36480	0.315751085557	0.33850	0.339090108871	0.16302	T	0.318782	0.69012	T	-0.165327	0.25942	T	-0.475257	0.24952	T	0.473404914140701	0.31656	T	0.630337	0.29780	T	0.11963978	0.28167	0.11210187	0.27046	0.11963978	0.28167	0.11210187	0.27045	-7.941	0.60667	D	.	.	0.179	0.39391	B	.;.	.;.	3.165636	0.42909	21.6	0.98737845933389035	0.45452	0.10500	0.15990	N	AEFDBCI	0.051175	0.09016	N	-0.0257415966020602	0.40693	2.420951	-0.154785551813003	0.33226	1.898325	0.999993786589157	0.74766	0.553676	0.25195	0	0.587068	0.34093	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	3.2	2.21	0.27042	1.923000	0.39685	5.866000	0.50483	0.618000	0.50648	0.113000	0.23048	0.996000	0.32793	0.313000	0.24807	0.0:0.0:0.7354:0.2646	7.246	0.25296	831	0.39019	Peptidoglycan recognition protein family domain, metazoa/bacteria;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1193.98	34	chr1	153345352	.	G	C	1193.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.560e-01;DP=816;ExcessHet=0.0000;FS=0.805;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=0.230;SOR=0.577	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1188	20	0	1	0
chr1	153346191	153346191	C	A	exonic	PGLYRP4	.	nonsynonymous SNV	PGLYRP4:NM_020393:exon3:c.G50T:p.G17V,	.	.	.	.	.	.	.	.	.	0.9495	0.66	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.933	P	0.75	P	.	.	1.000	N	0	N	3.38	T	-0.958	T	0.007	T	0.206	2.561	14.52	1.32	0.364	0.316	4.757	0.092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.003	0.76473	D	0.89	0.52105	P	0.443	0.56031	B	.	.	.	.	0.999997	0.08975	N	2.24	0.63355	M	3.38	0.05918	T	-1.59	0.43334	N	0.44	0.53181	-0.9575	0.39644	T	0.007	0.02244	T	9	0.3783845	0.54007	T	0.005607	0.14500	T	0.092	0.26621	0.576	0.70087	0.356072328145	0.35220	0.319902617854372	0.31903	0.227419575633	0.25295	0.339881956577	0.16420	T	0.109712	0.42382	T	-0.257121	0.13238	T	-0.607113	0.12220	T	0.684814810752869	0.40009	D	0.515049	0.16594	T	0.070537165	0.15545	0.084015526	0.19296	0.070537165	0.15544	0.084015526	0.19295	-7.132	0.55295	T	.	.	0.126	0.27373	B	.;.	.;.	2.565877	0.33239	19.28	0.98359968429785083	0.40638	0.13007	0.17609	N	AEFDBHCI	0.071474	0.14229	N	-0.6486981116427	0.17498	0.9009385	-0.760499699692567	0.15465	0.8134697	0.999637591754258	0.41205	0.487112	0.14033	0	0.518115	0.08659	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.25	1.32	0.20897	0.097000	0.15007	0.494000	0.18929	-0.174000	0.10959	0.072000	0.22128	0.128000	0.22971	0.026000	0.12556	0.0:0.6532:0.2213:0.1255	4.757	0.12464	826	0.39940	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1567.98	38	chr1	153346191	.	C	A	1567.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.088;DP=842;ExcessHet=0.0000;FS=3.077;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=1.16;SOR=0.452	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1385	20	0	1	0
chr1	153419305	153419305	A	G	exonic	S100A7A	.	nonsynonymous SNV	S100A7A:NM_176823:exon3:c.A302G:p.Q101R,	.	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.019	B	0.018	B	.	.	1.000	N	2.08	M	3.2	T	-0.952	T	0.009	T	0.269	1.218	9.942	0.56	0.131	0.164	3.370	0.042	0.00168400705179	0.0005	0.00199681	0.0014	0	0.0005	0	0	0.0008	0	0.0069	0.0013001	201	154602	rs116212340	0.0014	0.0014	0.0013	0.0016	0.0068	0.0014	0.0014	0.0064	0.0062	5.974e-05	0.0005	0	0	3.744e-05	0.0009	0.0013	0.0010	0.0068	0.0006	0.0006	0.0005	0.0007	0.0062	0.0005	0.0005	0.0045	0.0039	7.218e-05	0	0.0007	0	0	0	0	0.0008	0	0.0062	0.048	0.40068	D	0.0	0.92824	D	0.019	0.17989	B	0.018	0.18489	B	.	.	.	.	1	0.08975	N	2.3	0.65703	M	3.2	0.07236	T	-1.48	0.36189	N	0.05	0.20129	-0.9521	0.40608	T	0.009	0.03011	T	9	0.0075294673	0.00171	T	0.001684	0.02779	T	0.042	0.11227	.	.	0.0401082797425	0.02173	0.08491606816144269	0.08425	0.00599538227409	0.00522	0.328605234623	0.14724	T	0.022223	0.17168	T	-0.56506	0.00237	T	-0.581695	0.14394	T	0.0259639841324826	0.01401	T	0.445855	0.12478	T	0.10875192	0.25712	0.10117091	0.24213	0.10875192	0.25712	0.10117091	0.24212	-3.55	0.17139	T	.	.	0.082	0.08754	B	.;.;.	.;.;.	0.655695	0.10239	6.978	0.94926751534804277	0.25806	0.00564	0.02565	N	AEFBI	0.028948	0.02643	N	-0.9142184530218	0.10508	0.5025153	-1.05627328912969	0.08576	0.422349	1.21003298436433E-5	0.02871	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.72	0.56	0.16465	0.154000	0.16160	0.774000	0.21422	0.691000	0.84096	0.040000	0.20979	0.000000	0.08366	0.024000	0.12247	0.7684:0.0:0.2316:0.0	3.370	0.06798	846	0.36215	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1262.98	33	chr1	153419305	.	A	G	1262.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.730e+00;DP=1278;ExcessHet=0.0000;FS=8.059;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.89;ReadPosRankSum=-1.365e+00;SOR=0.291	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	20	0	1	0
chr1	153534700	153534700	C	T	exonic	S100A6	.	nonsynonymous SNV	S100A6:NM_014624:exon3:c.G269A:p.G90D,	.	.	.	.	.	.	.	.	.	.	.	696119	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	0.0	B	0.001	B	0.080	N	1.000	N	.	.	3.59	T	-0.931	T	0.004	T	0.06	3.522	17.98	-0.208	-0.003	-0.645	3.820	0.138	.	0.0082	0.00738818	0.0025	0.0263	0.0012	0	0	4.566e-05	0	0.0001	0.0023156	358	154602	rs2228293	0.0008	0.0008	0.0009	0.0007	0.0286	0.0008	0.0008	0.0271	0.0265	0.0286	0.0013	0	0	0	0.0023	3.428e-05	0.0021	0.0002	0.0076	0.0076	0.0076	0.0076	0.0263	0.0072	0.0071	0.0250	0.0245	0.0263	0	0.0030	0	0	0	0.0068	5.88e-05	0.0057	0.0002	0.002	0.72154	D	0.0	0.92824	D	0.0	0.02946	B	0.001	0.04355	B	0.080197	0.20940	N	0.384200	1	0.08975	N	.	.	.	3.59	0.04544	T	1.66	0.00606	N	0.078	0.05414	-0.9310	0.43992	T	0.004	0.01192	T	9	0.003377676	0.00059	T	.	.	.	0.138	0.37187	.	.	0.313210971179	0.30940	0.25720772501050937	0.25634	0.67148558951	0.59462	0.337431371212	0.16053	T	0.087389	0.37932	T	-0.685069	0.00045	T	-0.736559	0.04037	T	0.0495612048346173	0.05423	T	0.533147	0.17760	T	0.5672965	0.70912	0.24794206	0.50335	0.5672965	0.70913	0.24794206	0.50334	-2.72	0.07472	T	.	.	0.180	0.39254	B	.;.;.	.;.;.	2.076588	0.26409	17.11	0.96746485227790391	0.30943	0.11941	0.16959	N	AEFDGBHCI	0.242276	0.36376	N	-0.749283832021638	0.14653	0.7317389	-0.783164906994346	0.14907	0.7814016	0.999997943953738	0.74766	0.733237	0.96898	0	0.709663	0.81188	0	0.723109	0.80598	0	0.621717	0.48901	0	.	.	4.52	-0.208	0.12536	0.114000	0.15353	0.671000	0.20594	0.599000	0.40250	0.000000	0.06391	0.003000	0.18671	0.986000	0.61781	0.0:0.4455:0.1815:0.3731	3.820	0.08348	830	0.39242	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	415.98	34	chr1	153534700	.	C	T	415.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.046e+00;DP=726;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.85;ReadPosRankSum=1.76;SOR=0.743	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1189	20	0	1	0
chr1	153563524	153563524	G	A	exonic	S100A2	.	nonsynonymous SNV	S100A2:NM_001366406:exon2:c.C157T:p.P53S,	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	.	.	1.000	N	.	.	.	.	-0.928	T	0.055	T	0.044	-0.650	1.139	-4.14	-1.122	-0.302	9.702	0.026	0.00151584103915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.145e-06	2.052e-06	1.411e-06	2.899e-06	0.0004	5.7e-07	1.6e-07	6.161e-05	2.547e-05	0	0	0	0	0	0.0004	0	1.724e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.605	0.07816	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	.	.	.	-0.56	0.17003	N	0.047	0.01911	-0.9283	0.44386	T	0.055	0.23375	T	5	0.073568255	0.11133	T	0.001516	0.02343	T	0.026	0.05648	0.334	0.32167	0.143124449307	0.13826	.	.	.	.	.	.	.	.	.	.	-0.368111	0.03691	T	-0.766543	0.02883	T	0.047491422956373	0.05053	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.177570	0.03206	0.532	0.7036115541130642	0.09270	0.00843	0.03376	N	AEFDBCI	0.014372	0.00226	N	-1.14539936295455	0.05855	0.2680535	-1.37631167149415	0.03506	0.1636781	0.999996464571889	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.514364	0.09456	0	0.567892	0.33627	0	.	.	2.93	-4.14	0.03628	-0.524000	0.06309	-2.959000	0.03191	-1.027000	0.01708	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7438:0.0:0.2562:0.0	9.702	0.39357	789	0.46346	S-100	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	994.98	33	chr1	153563524	.	G	A	994.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.969;DP=835;ExcessHet=0.0000;FS=0.793;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=1.74;SOR=0.578	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1169	20	0	1	0
chr1	153636608	153636608	C	T	exonic	CHTOP	.	nonsynonymous SNV	CHTOP:NM_001206612:exon2:c.C20T:p.P7L	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.305	B	0.037	B	0.000	N	1.000	D	0.895	L	.	.	-0.967	T	0.085	T	0.467	3.683	18.72	5.18	2.705	2.999	16.231	0.080	0.0028173353341	7.7e-05	.	0.0001	0	0.0002	0	0	6.003e-05	0	0.0007	0.0001294	20	154602	rs140840793	5.885e-05	5.883e-05	4.766e-05	7.016e-05	0.0006	4.878e-05	4.498e-05	0.0005	0.0004	2.988e-05	6.709e-05	0	0	0	0	2.879e-05	0	0.0006	5.92e-05	5.912e-05	6.426e-05	5.389e-05	0.0002	3.08e-05	2.212e-05	5.843e-05	4.24e-05	0	0	0	0	0	0	0	0.0001	0	0.0002	0.009	0.57480	D	0.028	0.55759	D	0.305	0.32678	B	0.037	0.23121	B	0.000022	0.55875	N	0.159954	0.99996	0.52935	D	1.59	0.40313	L	.	.	.	-5.06	0.82764	D	0.422	0.52651	-0.9673	0.37754	T	0.085	0.33157	T	9	0.093322575	0.16505	T	0.002817	0.05898	T	0.080	0.23350	.	.	0.110392049598	0.10638	0.3041471773249011	0.30327	1.36013355591	0.84315	0.859780192375	0.91079	D	0.22007	0.58325	T	-0.216912	0.18416	T	-0.185193	0.56040	T	0.238198280334473	0.22336	T	0.914708	0.70803	D	0.31096748	0.53870	0.23284861	0.48457	0.31096748	0.53870	0.23284861	0.48456	-8.498	0.64416	D	.	.	0.445	0.75975	A	.;.;.;.	.;.;.;.	4.633415	0.73696	26.0	0.99778643426002323	0.86606	0.98120	0.79768	D	AEFDBI	0.606990	0.59713	D	0.0704591550401486	0.45087	2.771315	0.236871013931276	0.51906	3.369208	0.99999999979048	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.18	5.18	0.71140	5.438000	0.66300	7.714000	0.66958	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.231	0.82167	246	0.90367	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	945.98	36	chr1	153636608	.	C	T	945.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=865;ExcessHet=0.0000;FS=0.817;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-3.700e-02;SOR=0.798	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr1	153760378	153760378	C	G	exonic	INTS3	.	nonsynonymous SNV	INTS3:NM_023015:exon12:c.C1305G:p.D435E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.992	D	0.986	D	0.000	D	0.999	D	1.31	L	.	.	-0.865	T	0.172	T	0.819	4.131	21.3	2.28	0.340	1.167	8.751	0.557	0.0101042060593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	3.763e-05	5.452e-06	2.753e-06	5.404e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.404e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.39340	T	0.99	0.63424	D	0.971	0.76916	D	0.000000	0.84330	D	0.000000	0.999453	0.47118	D	.	.	.	.	.	.	-3.57	0.68999	D	0.889	0.88798	-0.8647	0.50922	T	0.172	0.51484	T	9	0.8319566	0.82357	D	0.010104	0.26235	T	0.557	0.81774	.	.	0.721551216883	0.71909	0.6563577712550202	0.65571	2.15008403777	0.95306	0.843462109566	0.88622	D	.	.	.	0.223	0.76021	D	0.0819729	0.75709	D	0.98498809337616	0.76116	D	.	.	.	.	.	.	.	.	.	.	.	-3.456	0.16153	T	.	.	0.998	0.97160	P	.;.;.	.;.;.	3.646224	0.51727	23.1	0.99633933635678729	0.76203	0.93226	0.57654	D	AEFBI	0.403545	0.47719	N	0.0683850253580956	0.44993	2.763348	0.0345004263229141	0.41329	2.481153	0.733851878871199	0.23096	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	2.28	0.27583	0.899000	0.28049	2.750000	0.34528	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7504:0.0:0.2496	8.751	0.33774	123	0.95099	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	2593.87	40	chr1	153760378	.	C	G	2593.87	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.650e+00;DP=2714;ExcessHet=17.4423;FS=282.183;InbreedingCoeff=-0.5203;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=1.34;ReadPosRankSum=0.949;SOR=11.919	GT:AD:DP:GQ:PL	0/1:99,61:160:99:328,0,1165	6	0	15	0
chr1	153934206	153934206	C	T	exonic	DENND4B	.	nonsynonymous SNV	DENND4B:NM_001367466:exon19:c.G2903A:p.R968H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.865	P	0.124	B	0.071	N	0.924	N	0.695	N	3.21	T	-0.931	T	0.005	T	0.346	3.528	18.01	3.76	1.184	1.157	6.931	0.052	0.0123096124786	.	.	1.416e-05	0	0	0	0	2.535e-05	0	0	6.5e-06	1	154602	rs766648377	6.19e-06	6.84e-06	5.473e-06	6.914e-06	3.027e-05	2.91e-06	2.11e-06	3.1e-06	2.24e-06	3.027e-05	0	0	0	0	0	7.213e-06	0	0	6.573e-06	6.566e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.02	0.49613	D	0.137	0.33894	T	0.865	0.47557	P	0.124	0.32546	B	0.071219	0.21488	N	0.483423	0.924377	0.27217	N	1.61	0.41143	L	3.21	0.07125	T	-0.28	0.15379	N	0.333	0.37405	-0.9313	0.43948	T	0.005	0.01578	T	10	0.12379414	0.23504	T	0.01231	0.30768	T	0.052	0.14661	0.284	0.24121	0.0934897674506	0.08844	0.2966370885961981	0.29576	0.606248581331	0.55478	0.608504772186	0.54105	T	0.009375	0.08542	T	-0.188108	0.22537	T	-0.50798	0.21524	T	0.514837145661201	0.33175	D	0.868913	0.59649	D	0.045718558	0.07531	0.034834143	0.02622	0.045718558	0.07531	0.034834143	0.02621	-5.601	0.42801	T	.	.	0.086	0.13876	B	.;.	.;.	5.186301	0.86974	29.1	0.99924301608528843	0.98980	0.56161	0.30046	D	AEFDBI	0.086113	0.17458	N	-0.0173852028305006	0.41068	2.44999	0.0587231380129952	0.42494	2.571301	0.991986046175707	0.32678	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.67	3.76	0.42368	0.833000	0.27157	7.597000	0.61435	0.599000	0.40250	0.973000	0.34540	1.000000	0.68203	0.995000	0.73285	0.0:0.7976:0.0:0.2024	6.931	0.23621	49	0.97662	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	633.98	34	chr1	153934206	.	C	T	633.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=793;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.83;ReadPosRankSum=-4.730e-01;SOR=0.684	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1232	20	0	1	0
chr1	153958458	153958458	C	T	exonic	CRTC2	.	nonsynonymous SNV	CRTC2:NM_181715:exon1:c.G40A:p.A14T,	.	.	335	1185	2	0	0	2	0.00084317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.0	B	0.001	B	0.040	N	0.919	N	0.205	N	1.72	T	-0.976	T	0.011	T	0.061	2.107	13.00	1.95	0.112	0.734	3.051	0.040	0.0142115482014	.	.	1.757e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs769771284	8.214e-06	8.893e-06	4.087e-06	1.238e-05	0.0001	4.38e-06	3.46e-06	7.124e-05	5.482e-05	0	0	0	0	0	0	0	1.658e-05	0.0001	1.314e-05	1.313e-05	0	2.689e-05	0.0004	2.18e-06	8.2e-07	7.282e-05	3.026e-05	0	0	0	0	0	0	0	0	0	0.0004	0.18	0.35537	T	0.254	0.25514	T	0.0	0.02946	B	0.001	0.04355	B	0.040408	0.24061	N	0.414158	0.998887	0.27329	N	0	0.06538	N	1.72	0.26588	T	0.68	0.33197	N	0.152	0.15609	-0.9762	0.35860	T	0.011	0.03949	T	10	0.08677277	0.14782	T	0.014212	0.34172	T	0.040	0.10527	0.205	0.12076	0.0675242888579	0.06100	0.6501147416362517	0.64947	0.221196391155	0.24664	0.671936392784	0.63114	T	0.291806	0.66455	T	-0.50437	0.00540	T	-0.70259	0.05685	T	0.0753184381267831	0.09379	T	0.669433	0.29593	T	0.056572344	0.11148	0.10459365	0.25124	0.056572344	0.11148	0.10459365	0.25123	-6.676	0.51629	T	.	.	0.100	0.28778	B	.;.	.;.	0.843043	0.12148	8.698	0.97867399136567368	0.36506	0.54219	0.29562	D	AEFGBHCIJ	0.114945	0.22621	N	-0.876159895964635	0.11411	0.5505516	-0.718093169520175	0.16510	0.873748	0.999999999785677	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.98	1.95	0.25130	1.620000	0.36586	0.515000	0.19114	-0.987000	0.01865	0.986000	0.36153	0.121000	0.22902	0.274000	0.23868	0.1446:0.5616:0.1397:0.1541	3.051	0.05797	69	0.97055	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	633.98	34	chr1	153958458	.	C	T	633.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=772;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.46;ReadPosRankSum=-1.630e-01;SOR=0.749	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,818	20	0	1	0
chr1	153962344	153962344	C	T	exonic	SLC39A1	.	nonsynonymous SNV	SLC39A1:NM_001271957:exon3:c.G194A:p.R65H	.	.	427	1090	5	0	0	5	0.00228833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.011	B	0.009	B	0.001	D	1.000	D	0	N	0.84	T	-1.037	T	0.025	T	0.17	1.492	10.94	5.11	2.657	3.014	9.448	0.074	0.00651087128044	0.0005	0.00179712	0.0014	9.628e-05	0.0008	0	0	0.0011	0.0022	0.0055	0.0002135	33	154602	rs61755890	0.0008	0.0008	0.0007	0.0010	0.0048	0.0008	0.0008	0.0044	0.0042	2.988e-05	0.0011	0.0003	0	0	0.0047	0.0006	0.0011	0.0048	0.0005	0.0005	0.0005	0.0005	0.0046	0.0004	0.0004	0.0031	0.0026	0.0002	0	0.0009	0	0	0	0	0.0005	0.0009	0.0046	0.536	0.12714	T	0.62	0.07444	T	0.011	0.15914	B	0.009	0.14300	B	0.000854	0.41440	D	0.158200	0.991537	0.81001	D	-0.1	0.04694	N	0.84	0.47477	T	0.72	0.18877	N	0.178	0.19325	-1.0369	0.18264	T	0.025	0.10821	T	10	0.0067915022	0.00154	T	0.006511	0.17157	T	0.074	0.21613	.	.	0.514587094315	0.51101	0.4731409055275913	0.47233	0.416568246145	0.42296	0.483664810658	0.36562	T	0.091499	0.38807	T	-0.530503	0.00381	T	-0.534129	0.18876	T	0.0242987597593612	0.01183	T	0.822818	0.48291	T	0.053951774	0.10284	0.05203965	0.08497	0.053951774	0.10283	0.05203965	0.08496	-1.634	0.02062	T	.	.	0.119	0.32541	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.523362	0.49401	22.8	0.89128373460542931	0.18535	0.84588	0.43671	D	AEFDBHCI	0.337770	0.43546	N	-0.357055904812922	0.27013	1.47882	-0.135417948751163	0.33975	1.949171	0.999999999999676	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.52208	0.10781	0	0.638787	0.57140	0	.	.	5.11	5.11	0.69188	1.645000	0.36855	7.677000	0.65097	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.167000	0.20881	0.0:0.9065:0.0:0.0935	9.448	0.37873	72	0.96948	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	767.98	37	chr1	153962344	.	C	T	767.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.970e-01;DP=762;ExcessHet=0.0000;FS=1.027;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=0.186;SOR=0.465	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1234	20	0	1	0
chr1	154012300	154012300	T	C	exonic	NUP210L	.	nonsynonymous SNV	NUP210L:NM_001159484:exon34:c.A4724G:p.N1575S	.	.	428	1085	9	0	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.008	B	0.003	B	0.001	N	0.999	N	1.1	L	3.57	T	-0.933	T	0.012	T	0.022	0.848	8.426	2.45	0.178	1.370	8.136	0.046	0.0115525975168	0.0005	.	0.0005	0	0.0004	0	0	0.0007	0.0011	0	0.0004204	65	154602	rs200793752	0.0004	0.0004	0.0004	0.0004	0.0040	0.0004	0.0004	0.0027	0.0023	5.976e-05	0.0002	0	0	0.0001	0.0040	0.0005	0.0002	6.957e-05	0.0003	0.0003	0.0004	0.0003	0.0006	0.0003	0.0002	0.0005	0.0004	0.0001	0	6.561e-05	0	0	0.0003	0	0.0006	0.0005	0	0.535	0.09430	T	0.198	0.32783	T	0.001	0.07471	B	0.002	0.06944	B	0.000506	0.43753	N	0.161181	0.999316	0.21372	N	1.345	0.33447	L	3.57	0.21666	T	-1.45	0.37178	N	0.221	0.25989	-0.9326	0.43755	T	0.012	0.04605	T	10	0.051190495	0.04963	T	0.011553	0.29287	T	0.046	0.12618	.	.	0.629801484396	0.62677	0.292387223421511	0.29151	0.232828200155	0.25818	0.328631043434	0.14728	T	0.054246	0.29669	T	-0.616989	0.00115	T	-0.7383	0.03963	T	0.0168013747724584	0.00435	T	0.708229	0.31875	T	0.06262222	0.13099	0.06999032	0.14817	0.06262222	0.13099	0.06999032	0.14817	-2.472	0.07320	T	.	.	0.080	0.07554	B	.;.;.	.;.;.	1.602750	0.20489	14.77	0.91105655770865912	0.20358	0.65890	0.32890	D	AEFDBI	0.134326	0.25430	N	-0.440825038683387	0.24052	1.29601	-0.276428410051594	0.28877	1.613467	1.5168561315472E-4	0.05650	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.0	2.45	0.28953	1.367000	0.33809	1.789000	0.28782	0.658000	0.54486	0.951000	0.33123	0.993000	0.31925	0.995000	0.73285	0.0:0.2257:0.0:0.7743	8.136	0.30212	83	0.96533	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1981.98	34	chr1	154012300	.	T	C	1981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.020e-01;DP=851;ExcessHet=0.0000;FS=0.588;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=-1.370e+00;SOR=0.641	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1308	20	0	1	0
chr1	154273376	154273378	GAT	-	exonic	HAX1	.	nonframeshift deletion	HAX1:NM_006118:exon2:c.94_96del:p.D34del,	Neutropenia, severe congenital 3, autosomal recessive, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	515091	Kostmann_syndrome	MONDO:MONDO:0012548,MedGen:C5235141,OMIM:610738,Orphanet:99749	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.000998403	0.0001	0.0016	8.649e-05	0	0	0	0	0	0.0001423	22	154602	rs560912060	4.31e-05	4.31e-05	4.628e-05	3.988e-05	0.0013	3.443e-05	3.129e-05	0.0010	0.0009	0.0013	6.708e-05	0	0	0	0	3.597e-06	0.0001	4.637e-05	0.0003	0.0003	0.0003	0.0004	0.0012	0.0003	0.0002	0.0009	0.0008	0.0012	0	0.0001	0	0	0	0	2.941e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1346.94	41	chr1	154273375	.	AGAT	A	1346.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=788;ExcessHet=0.0000;FS=2.137;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.52;ReadPosRankSum=-8.000e-02;SOR=1.024	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1103	20	0	1	0
chr1	154508473	154508473	A	G	exonic	TDRD10	.	nonsynonymous SNV	TDRD10:NM_001098475:exon4:c.A133G:p.I45V	.	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.0	B	0.001	B	.	.	1.000	N	0.15	N	3.39	T	-0.922	T	0.003	T	0.205	-0.516	1.644	-4.26	-1.538	-0.279	10.175	0.035	0.00252677762276	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs1441088212	6.881e-06	6.841e-06	8.223e-06	5.528e-06	0.0005	3.48e-06	2.54e-06	0.0001	7.568e-05	0	2.237e-05	0	0	0	0.0005	5.434e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.02065	T	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.77	0.19370	N	3.39	0.05710	T	0.53	0.03297	N	0.084	0.08786	-0.9217	0.45320	T	0.003	0.00897	T	9	0.03454891	0.01667	T	0.002527	0.05065	T	0.035	0.08770	0.489	0.57415	0.0138822411134	0.00435	0.1502467920857204	0.14946	0.309725696324	0.33285	0.371502906084	0.21047	T	1.25E-4	0.00015	T	-0.393134	0.02567	T	-0.719621	0.04814	T	0.015994574523769	0.00381	T	0.505949	0.15996	T	0.016712906	0.00216	0.024230013	0.00440	0.016712906	0.00216	0.024230013	0.00440	-1.814	0.02551	T	.	.	0.066	0.06341	B	.;.	.;.	-0.492313	0.01892	0.156	0.27590144337015471	0.01377	0.00176	0.01036	N	AEFDBI	0.020958	0.00882	N	-1.71112171951841	0.00803	0.03470586	-1.78419470488112	0.00811	0.03620498	0.0838943835037161	0.15940	0.615465	0.37627	0	0.563428	0.19063	0	0.59043	0.30614	0	0.655142	0.61905	0	.	.	2.13	-4.26	0.03497	-0.258000	0.08754	-0.430000	0.09227	-0.775000	0.03392	0.000000	0.06391	0.000000	0.08366	0.125000	0.19370	0.2928:0.0:0.7072:0.0	10.175	0.42107	436	0.80373	.;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1832.98	34	chr1	154508473	.	A	G	1832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=811;ExcessHet=0.0000;FS=4.395;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.78;ReadPosRankSum=0.233;SOR=0.827	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1271	20	0	1	0
chr1	154558454	154558454	C	T	exonic	UBE2Q1	.	nonsynonymous SNV	UBE2Q1:NM_017582:exon1:c.G100A:p.G34S,	.	.	407	1101	10	4	0	18	0.00810811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.007	B	0.01	B	.	.	0.924	N	0	N	.	.	-1.046	T	0.025	T	0.278	2.094	12.96	3.73	2.108	2.326	7.349	0.080	0.162113210841	.	.	0.0070	0	0	0	.	0.0005	0.0093	0.0097	0.0004981	77	154602	rs752073705	0.0007	0.0007	0.0006	0.0009	0.0084	0.0007	0.0007	0.0079	0.0076	3.774e-05	0.0061	4.362e-05	0	0	0.0023	0.0002	0.0006	0.0084	0.0006	0.0006	0.0005	0.0007	0.0067	0.0005	0.0005	0.0049	0.0043	2.431e-05	0	0.0020	0	0.0004	0	0	0.0004	0.0005	0.0067	0.0	0.91255	D	0.384	0.15794	T	0.007	0.14184	B	0.01	0.14941	B	.	.	.	.	0.923799	0.27230	N	-0.69	0.01958	N	.	.	.	0.04	0.06488	N	0.218	0.24385	-1.0457	0.15621	T	0.025	0.10598	T	8	0.0056792498	0.00126	T	0.162113	0.84176	D	0.080	0.23350	0.146	0.04941	0.0934897674506	0.08844	0.13979664258323896	0.13902	1.12703149	0.78481	0.879400014877	0.93880	D	0.015225	0.12811	T	-0.0897012	0.38126	T	-0.366626	0.37283	T	0.203579745484611	0.20612	T	0.557944	0.19432	T	0.14923325	0.34032	0.3586009	0.61333	0.14923325	0.34032	0.3586009	0.61333	-5.614	0.42920	T	.	.	0.115	0.22861	B	.	.	2.987731	0.39878	21.1	0.96739508627073323	0.30917	0.60852	0.31314	D	AEFDBHCI	0.254781	0.37403	N	-0.321724371383359	0.28325	1.561347	-0.144085508470134	0.33636	1.926188	0.999999998682502	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.391439	0.06340	0	0.581474	0.35302	0	.	.	3.73	3.73	0.41982	0.653000	0.24588	3.200000	0.36746	0.288000	0.18739	0.828000	0.30104	1.000000	0.68203	0.975000	0.56047	0.0:0.8793:0.0:0.1207	7.349	0.25856	459	0.78817	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	101.4	12	chr1	154558454	.	C	T	101.4	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.980e-01;DP=212;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0473;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=1.59;SOR=0.368	GT:AD:DP:GQ:PL	0/0:12,0:12:36:0,36,316	20	0	1	0
chr1	154869726	154869726	-	GCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGC:p.Q80_P81insQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	1/2:0,15,23,0,3,0,0:41:99:2152,845,701,601,0,464,1670,819,541,1602,1541,704,414,1474,1463,1670,819,541,1602,1474,1602,1670,819,541,1602,1474,1602,1602	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs746397332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	1/2:0,15,23,0,3,0,0:41:99:2152,845,701,601,0,464,1670,819,541,1602,1541,704,414,1474,1463,1670,819,541,1602,1474,1602,1670,819,541,1602,1474,1602,1602	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	1/2:0,15,23,0,3,0,0:41:99:2152,845,701,601,0,464,1670,819,541,1602,1541,704,414,1474,1463,1670,819,541,1602,1474,1602,1670,819,541,1602,1474,1602,1602	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGC:p.Q80_P81insQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	1/2:0,15,23,0,3,0,0:41:99:2152,845,701,601,0,464,1670,819,541,1602,1541,704,414,1474,1463,1670,819,541,1602,1474,1602,1670,819,541,1602,1474,1602,1602	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	1/2:0,15,23,0,3,0,0:41:99:2152,845,701,601,0,464,1670,819,541,1602,1541,704,414,1474,1463,1670,819,541,1602,1474,1602,1670,819,541,1602,1474,1602,1602	0	1	0	0
chr1	154961821	154961821	A	G	exonic	LOC101928120	.	nonsynonymous SNV	LOC101928120:NM_001321726:exon1:c.A209G:p.E70G,	.	.	672	843	4	3	0	10	0.00589623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008068	21	26028	rs767231832	0.0026	0.0017	0.0026	0.0026	0.0077	0.0024	0.0023	0.0040	0.0030	0.0010	0.0018	0.0149	5.021e-05	0.0002	0.0077	0.0026	0.0025	0.0019	0.0020	0.0020	0.0019	0.0022	0.0044	0.0018	0.0018	0.0029	0.0025	0.0005	0	0.0020	0.0124	0	9.479e-05	0	0.0027	0.0047	0.0044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2252.98	34	chr1	154961821	.	A	G	2252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.597e+00;DP=903;ExcessHet=0.0000;FS=0.576;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=1.35;SOR=0.783	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,991	20	0	1	0
chr1	154984014	154984014	C	T	exonic	FLAD1	.	nonsynonymous SNV	FLAD1:NM_025207:exon1:c.C320T:p.P107L	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, Autosomal recessive	YES	428	1092	2	0	0	2	0.000914913	.	.	1896109	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.001	B	0.001	B	0.251	N	1.000	N	0.805	L	.	.	-1.009	T	0.028	T	0.123	2.089	12.94	2.38	0.184	0.238	6.518	0.016	0.00371213809853	.	.	6.764e-05	0	0	0	0	0.0001	0	0	4.53e-05	7	154602	rs773925274	4.261e-05	4.104e-05	4.03e-05	4.502e-05	0.0013	3.343e-05	3.057e-05	0.0006	0.0004	3.318e-05	0	0	0	0	0.0013	4.237e-05	5.372e-05	2.838e-05	3.946e-05	3.941e-05	2.571e-05	5.386e-05	6.553e-05	1.717e-05	1.13e-05	1.972e-05	1.125e-05	2.414e-05	0	6.553e-05	0	0	0	0	5.882e-05	0	0	0.024	0.47745	D	0.03	0.54159	D	0.001	0.07471	B	0.001	0.04355	B	0.251360	0.15503	N	0.612212	0.999996	0.20721	N	0.805	0.20218	L	.	.	.	-0.86	0.23372	N	0.082	0.24010	-1.0094	0.27105	T	0.028	0.11882	T	9	0.062817216	0.08091	T	0.003712	0.08589	T	0.016	0.02506	0.287	0.24601	0.273070737957	0.26916	0.2675779612000002	0.26670	0.221553845957	0.24691	0.356646716595	0.18896	T	0.018814	0.47004	T	-0.403192	0.02206	T	-0.601599	0.12678	T	0.118537467076708	0.14287	T	0.727427	0.34191	T	0.043680493	0.06851	0.05574188	0.09833	0.049635418	0.08842	0.0610476	0.11723	-4.91	0.35847	T	0.09742854458586857	0.06854	0.093	0.13923	B	.;.;.;.	.;.;.;.	2.303983	0.29484	18.14	0.92498191697090171	0.21934	0.07520	0.13534	N	AEFDGBHCI	0.105478	0.21074	N	-0.678909444457284	0.16624	0.8486005	-0.611741658396257	0.19191	1.028579	0.999999812695082	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.63	2.38	0.28415	-0.011000	0.12659	0.685000	0.20714	0.599000	0.40250	0.000000	0.06391	0.009000	0.19889	0.767000	0.36405	0.4407:0.4691:0.0:0.0902	6.518	0.21455	380	0.83728	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1576.98	34	chr1	154984014	.	C	T	1576.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.280e-01;DP=813;ExcessHet=0.0000;FS=1.421;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.72;ReadPosRankSum=0.617;SOR=0.562	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1357	20	0	1	0
chr1	155029273	155029273	G	C	exonic	DCST2	.	nonsynonymous SNV	DCST2:NM_144622:exon8:c.C1302G:p.D434E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.817	P	0.372	B	0.001	N	0.970	N	2.015	M	1.49	T	-1.050	T	0.033	T	0.687	1.150	9.685	4.17	1.113	1.652	9.942	0.161	0.0139974002674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.27310	T	0.0	0.92824	D	0.817	0.45613	P	0.372	0.43610	B	0.001071	0.40389	N	0.167175	0.969994	0.25726	N	2.675	0.78361	M	1.49	0.31470	T	-1.4	0.34596	N	0.727	0.72835	-1.0505	0.14258	T	0.033	0.14290	T	10	0.62417406	0.68147	D	0.013997	0.33816	T	0.161	0.41658	0.674	0.81200	0.17948927462	0.17512	0.6456541934053105	0.64500	0.360637865408	0.37730	0.497379153967	0.38463	T	0.097868	0.40113	T	-0.0086475	0.50455	T	-0.250198	0.49797	T	0.883245944976807	0.53341	D	0.683432	0.29175	T	0.07427531	0.16658	0.08153132	0.18537	0.07427531	0.16658	0.08153132	0.18536	-11.131	0.80371	D	.	.	0.548	0.66682	A	.	.	3.144839	0.42545	21.6	0.92237701208793643	0.21614	0.82894	0.42062	D	AEFBCI	0.381165	0.46353	N	0.0730207930767078	0.45206	2.78113	0.110010546298301	0.45059	2.775942	0.996970439281518	0.35164	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.09	4.17	0.48303	2.040000	0.40824	5.121000	0.47587	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0993:0.0:0.9007:0.0	9.942	0.40752	264	0.89640	Dendritic cell-specific transmembrane protein-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1197.98	35	chr1	155029273	.	G	C	1197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.540e-01;DP=794;ExcessHet=0.0000;FS=0.755;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=1.95;SOR=0.687	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr1	155030462	155030462	G	A	exonic	DCST2	.	nonsynonymous SNV	DCST2:NM_144622:exon6:c.C989T:p.T330M,	.	.	421	1096	5	0	0	5	0.00227583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.066	B	0.004	B	0.063	N	1.000	N	0.55	N	1.89	T	-0.993	T	0.013	T	0.162	0.021	4.121	4.19	0.885	0.004	6.587	0.076	0.00494578456474	7.7e-05	.	0.0002	0	8.75e-05	0.0006	0	0.0002	0	0.0001	0.0001423	22	154602	rs199920613	7.73e-05	7.73e-05	6.534e-05	8.939e-05	0.0014	6.533e-05	6.136e-05	0.0007	0.0005	0	0	3.826e-05	0.0003	0	0.0014	4.406e-05	0.0003	0.0003	5.918e-05	5.911e-05	5.141e-05	6.731e-05	0.0010	3.079e-05	2.211e-05	0.0004	0.0002	0	0	0	0	0.0010	0	0	5.881e-05	0	0	0.266	0.16251	T	0.228	0.25286	T	0.066	0.23586	B	0.004	0.10090	B	0.062950	0.22060	N	0.433503	1	0.08975	N	0.68	0.16426	N	1.84	0.24656	T	-0.94	0.25118	N	0.34	0.38129	-0.9925	0.31959	T	0.013	0.05129	T	10	0.033588797	0.01539	T	0.004946	0.12442	T	0.076	0.22200	.	.	0.0716867268079	0.06686	0.3041859152448464	0.30331	0.078622320537	0.08843	0.309993207455	0.11906	T	0.034127	0.23198	T	-0.509299	0.00507	T	-0.612972	0.11744	T	0.00937517633725064	0.00120	T	0.59994	0.22366	T	0.020356834	0.00591	0.050802935	0.08046	0.020356834	0.00591	0.050802935	0.08045	-5.004	0.36883	T	.	.	0.083	0.09143	B	.	.	1.266850	0.16649	12.68	0.6982955638713354	0.09098	0.11459	0.16648	N	AEFGBCI	0.088727	0.17986	N	-0.711823890731682	0.15689	0.7928551	-0.646898055984518	0.18295	0.9766997	0.11550978613625	0.16757	0.554377	0.28877	0	0.59043	0.45803	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	5.24	4.19	0.48645	0.074000	0.14525	0.931000	0.22780	0.676000	0.76740	0.000000	0.06391	0.205000	0.23600	0.457000	0.28051	0.1895:0.0:0.8105:0.0	6.587	0.21819	258	0.89879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	725.98	36	chr1	155030462	.	G	A	725.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=772;ExcessHet=0.0000;FS=1.101;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.52;ReadPosRankSum=-3.980e-01;SOR=0.527	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1265	20	0	1	0
chr1	155031706	155031706	C	T	exonic	DCST2	.	nonsynonymous SNV	DCST2:NM_144622:exon4:c.G607A:p.G203S,	.	.	428	1077	16	1	0	18	0.00828729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.989	D	0.746	P	0.000	D	0.877	D	1.04	L	1.83	T	-1.095	T	0.039	T	0.334	4.708	26.1	4.76	1.407	3.706	11.784	0.142	.	0.0008	0.00359425	0.0024	0	0.0006	0	0.0002	0.0006	0.0022	0.0148	0.0021022	325	154602	rs143867546	0.0012	0.0012	0.0007	0.0016	0.0140	0.0011	0.0011	0.0134	0.0131	0.0001	0.0004	0.0014	0	0.0006	0.0040	0.0003	0.0015	0.0140	0.0006	0.0006	0.0004	0.0008	0.0085	0.0005	0.0004	0.0064	0.0057	2.406e-05	0.0055	0.0002	0.0014	0	0.0004	0	0.0004	0.0005	0.0085	0.0	0.91255	D	0.0	0.92824	D	0.989	0.62824	D	0.746	0.55899	P	0.000002	0.62929	D	0.000000	0.877179	0.35677	D	2.455	0.71248	M	1.77	0.25841	T	-4.39	0.77225	D	0.609	0.62611	-1.0952	0.04723	T	0.039	0.16720	T	10	0.0073500276	0.00167	T	.	.	.	0.142	0.37995	.	.	0.396494342077	0.39262	0.6308940543916751	0.63023	0.247040294134	0.27239	0.543425798416	0.44929	T	0.353173	0.72051	T	-0.426254	0.01562	T	-0.373385	0.36493	T	0.0790607385132927	0.09866	T	0.780822	0.41560	T	0.67530733	0.76718	0.54595006	0.73753	0.67530733	0.76719	0.54595006	0.73754	-10.341	0.75928	D	.	.	0.355	0.56869	A	.	.	4.282848	0.65252	24.8	0.99858674468472719	0.93729	0.85127	0.44234	D	AEFBI	0.578397	0.57962	D	0.319765875406958	0.57162	3.882741	0.355873199408779	0.58862	4.059571	0.162697727887977	0.17617	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.67	4.76	0.60189	3.611000	0.53881	5.983000	0.52202	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.9173:0.0:0.0827	11.784	0.51303	256	0.89942	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1425.98	35	chr1	155031706	.	C	T	1425.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.183;DP=825;ExcessHet=0.0000;FS=0.783;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.70;ReadPosRankSum=0.447;SOR=0.557	GT:AD:DP:GQ:PL	0/1:40,57:97:99:1440,0,915	20	0	1	0
chr1	155043442	155043442	C	G	exonic	DCST1	.	nonsynonymous SNV	DCST1:NM_001143687:exon9:c.C1030G:p.R344G	.	.	409	1110	3	0	0	3	0.00134953	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.611	P	0.077	B	0.002	N	0.982	N	1.1	L	1.87	T	-1.041	T	0.018	T	0.366	0.620	7.334	3.05	0.855	0.606	7.825	0.071	.	7.7e-05	0.00479233	0.0027	9.848e-05	8.673e-05	0.0095	0.0002	0.0002	0.0011	0.0140	0.0023932	370	154602	rs141437613	0.0011	0.0011	0.0007	0.0015	0.0130	0.0010	0.0010	0.0124	0.0122	5.977e-05	4.483e-05	0.0009	0.0043	0.0001	0.0007	0.0001	0.0016	0.0130	0.0009	0.0009	0.0006	0.0013	0.0122	0.0008	0.0008	0.0097	0.0088	4.816e-05	0	6.537e-05	0.0023	0.0114	0.0002	0	0.0001	0	0.0122	0.333	0.13262	T	0.328	0.18846	T	0.208	0.29916	B	0.026	0.20792	B	0.002040	0.00853	N	3.876800	0.982185	0.24983	N	2.19	0.61577	M	1.86	0.24472	T	-2.44	0.54382	N	0.448	0.48596	-1.0414	0.16890	T	0.018	0.07329	T	10	0.0069132745	0.00157	T	.	.	.	0.071	0.20720	.	.	0.250579442822	0.24687	0.3614573615860244	0.36059	0.204685920669	0.22888	0.199973553419	0.00456	T	0.202445	0.56062	T	-0.500187	0.00570	T	-0.47698	0.24768	T	0.026407611417067	0.01461	T	0.737626	0.35462	T	0.0868855	0.20210	0.11649379	0.28123	0.0868855	0.20210	0.11649379	0.28122	-3.89	0.22152	T	.	.	0.091	0.17402	B	.;.;.	.;.;.	2.444052	0.31461	18.75	0.96758696166642133	0.30990	0.27419	0.23272	N	AEFDBHCI	0.173282	0.30036	N	-0.470962682313579	0.23036	1.234217	-0.427702939206982	0.24188	1.323162	0.999999999914485	0.74766	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	3.99	3.05	0.34272	0.456000	0.21572	1.733000	0.28342	0.549000	0.26987	0.183000	0.24101	0.004000	0.18990	0.829000	0.39076	0.0:0.8822:0.0:0.1178	7.825	0.28471	228	0.91137	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	593.98	35	chr1	155043442	.	C	G	593.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.617e+00;DP=758;ExcessHet=0.0000;FS=2.296;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=1.61;SOR=0.426	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1147	20	0	1	0
chr1	155054342	155054342	A	G	exonic	ADAM15	.	nonsynonymous SNV	ADAM15:NM_001261464:exon6:c.A478G:p.S160G	.	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.02	B	0.065	B	0.075	N	1.000	D	1.555	L	3.11	T	-1.042	T	0.009	T	0.116	1.556	11.16	2.66	0.918	1.150	5.81	0.045	0.00886300496776	.	.	4.161e-05	0	8.64e-05	0	0	4.516e-05	0.0011	0	3.23e-05	5	154602	rs748898385	3.372e-05	3.352e-05	3.698e-05	3.044e-05	0.0002	2.582e-05	2.326e-05	3.267e-05	2.927e-05	0	2.372e-05	0	0	0	0.0002	4.24e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.26629	T	0.49	0.26467	T	0.011	0.17332	B	0.044	0.27321	B	0.074540	0.21278	N	0.402267	1	0.81001	D	2.295	0.65404	M	3.11	0.08194	T	-2.33	0.51968	N	0.169	0.28498	-1.0425	0.16562	T	0.009	0.03448	T	10	0.20406923	0.36585	T	0.008863	0.23366	T	0.045	0.12272	0.655	0.79276	0.347217280506	0.34334	0.7405884137181207	0.74003	0.226845316457	0.25228	0.347109913826	0.17496	T	0.223474	0.58763	T	-0.382094	0.03022	T	-0.627151	0.10632	T	0.0553025661466652	0.06408	T	0.784922	0.42251	T	0.06467747	0.13746	0.078823924	0.17691	0.06467747	0.13746	0.078823924	0.17691	-6.578	0.58520	T	.	.	0.086	0.31906	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.108246	0.26829	17.25	0.98092332926173553	0.38197	0.81587	0.40960	D	AEFDGBI	0.303171	0.41122	N	-0.311002834541067	0.28728	1.587048	-0.207246995268467	0.31274	1.768417	0.999964914296615	0.48965	0.706548	0.73137	0	0.633656	0.55848	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.09	2.66	0.30672	0.916000	0.28273	4.615000	0.44052	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.794000	0.37478	0.7798:0.0:0.2202:0.0	5.81	0.17724	218	0.91525	Peptidase M12B, propeptide;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1261.98	33	chr1	155054342	.	A	G	1261.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.494e+00;DP=809;ExcessHet=0.0000;FS=2.642;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=1.72;SOR=0.893	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1246	20	0	1	0
chr1	155068851	155068852	AG	-	splicing	EFNA4	NM_005227:exon4:r.spl	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1048.94	38	chr1	155068850	.	CAG	C	1048.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.717;DP=764;ExcessHet=0.0000;FS=1.053;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.20;ReadPosRankSum=1.08;SOR=0.909	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1171	20	0	1	0
chr1	155178572	155178572	G	C	exonic	TRIM46	.	nonsynonymous SNV	TRIM46:NM_001282378:exon6:c.G866C:p.G289A	.	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.286	B	0.092	B	0.001	D	1.000	N	-1.1	N	0.96	T	-1.073	T	0.035	T	0.361	1.030	9.207	3.51	1.952	5.115	10.703	0.118	0.0318258910904	0.0005	0.000599042	0.0005	9.621e-05	0.0003	0	0.0011	0.0007	0	0.0003	0.0005433	84	154602	rs150155187	0.0007	0.0007	0.0008	0.0007	0.0010	0.0007	0.0007	0.0008	0.0008	0.0001	0.0009	0	0	0.0007	0.0010	0.0008	0.0009	0.0002	0.0004	0.0004	0.0004	0.0005	0.0007	0.0003	0.0003	0.0005	0.0004	0.0001	0	0.0007	0	0	0.0005	0	0.0006	0	0.0004	0.282	0.20002	T	0.356	0.17268	T	0.244	0.31025	B	0.092	0.30031	B	0.000890	0.41231	D	0.167836	0.602017	0.30932	N	-0.805	0.01590	N	-0.03	0.63077	T	0.33	0.03889	N	0.228	0.29774	-1.0732	0.08724	T	0.035	0.14857	T	10	0.017531991	0.00375	T	0.031826	0.53814	D	0.118	0.32913	.	.	0.496399491459	0.49275	0.3710301722538829	0.37017	0.800192881485	0.66204	0.666399896145	0.62325	T	0.003589	0.26242	T	-0.325388	0.06467	T	-0.325678	0.41950	T	0.012284731608261	0.00199	T	0.977102	0.93402	D	0.03757297	0.04843	0.080764666	0.18297	0.03757297	0.04843	0.080764666	0.18297	-3.437	0.15559	T	.	.	0.080	0.17869	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.202027	0.43554	21.8	0.93165558086065803	0.22820	0.82721	0.41910	D	AEFDGBHCI	0.404280	0.47763	N	-0.418560606670902	0.24817	1.343	-0.226746084418193	0.30582	1.723136	0.999999992900283	0.74766	0.706548	0.73137	0	0.626922	0.53725	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.51	3.51	0.39297	4.208000	0.58284	6.455000	0.55682	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.853000	0.40368	0.0:0.0:1.0:0.0	10.703	0.45136	70	0.97015	COS domain;COS domain;.;.;COS domain;.;COS domain;COS domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1246.98	39	chr1	155178572	.	G	C	1246.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.25;DP=857;ExcessHet=0.0000;FS=4.481;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.82;ReadPosRankSum=0.898;SOR=1.111	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1164	20	0	1	0
chr1	155186148	155186148	G	C	exonic	MUC1	.	nonsynonymous SNV	MUC1:NM_001044391:exon5:c.C440G:p.S147C	Medullary cystic kidney disease 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2386513	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	1.000	D	2.425	M	1.48	T	-0.485	T	0.277	T	0.664	3.516	17.96	4.57	2.532	4.436	13.040	0.228	0.0730881798815	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs780727289	1.271e-05	1.231e-05	1.536e-05	9.997e-06	0.0002	7.94e-06	6.55e-06	5.88e-06	4.65e-06	0	2.535e-05	0	0	0	0.0002	1.103e-05	3.414e-05	2.469e-05	6.568e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.92359	D	.	.	.	.	0.876392	0.81001	D	.	.	.	0.97	0.57419	T	-3.96	0.73684	D	0.439	0.53093	-0.4849	0.69191	T	0.277	0.64926	T	9	0.35168758	0.52013	T	0.073088	0.71700	D	0.228	0.52768	0.211	0.12923	0.7807895422	0.77876	0.4793372651105636	0.47853	.	.	0.503526747227	0.39319	T	0.148327	0.50960	T	0.106017	0.64935	D	-0.0218442	0.68907	D	0.973334670066833	0.70054	D	0.881912	0.60169	D	.	.	.	.	.	.	.	.	-13.405	0.94421	D	.	.	0.573	0.69509	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.086688	0.84923	28.4	0.98306374834759047	0.40097	0.78837	0.38958	D	ALL	0.841534	0.75872	D	0.7222473405488	0.81089	7.441647	0.666377095280683	0.79837	7.167169	0.99999999300489	0.74766	0.386957	0.05904	2	0.624146	0.53433	0	0.137785	0.03908	3	0.604944	0.38103	0	.	.	4.57	4.57	0.55860	4.825000	0.62398	9.676000	0.81232	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	13.040	0.58303	71	0.96981	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	749.98	34	chr1	155186148	.	G	C	749.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.038e+00;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.49;ReadPosRankSum=-6.400e-02;SOR=0.764	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr1	155188521	155188521	T	G	exonic	MUC1	.	nonsynonymous SNV	MUC1:NM_001204285:exon4:c.A530C:p.N177T	Medullary cystic kidney disease 1, Autosomal dominant	.	421	1096	5	0	0	5	0.00227583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.132	B	0.059	B	0.008	N	1.000	N	0	N	2.24	T	-0.995	T	0.006	T	0.076	0.774	8.088	-2.04	-0.407	-0.791	4.728	0.016	.	.	0.00379393	0.0079	0	0	0	0	0	0.0063	0.0153	0.0010414	161	154602	rs1029131580	0.0009	0.0009	0.0005	0.0014	0.0154	0.0009	0.0009	0.0147	0.0144	0.0001	5.601e-05	0	8.396e-05	0	0.0009	4.635e-06	0.0010	0.0154	0.0005	0.0005	0.0003	0.0008	0.0164	0.0004	0.0004	0.0134	0.0123	4.914e-05	0	0	0	0	9.666e-05	0	0	0.0005	0.0164	.	.	.	0.301	0.36630	T	.	.	.	.	.	.	0.007628	0.01175	N	3.632500	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.095	0.07535	-0.9950	0.31299	T	0.006	0.02093	T	10	0.0025337338	0.00038	T	.	.	.	.	.	0.169	0.07419	0.0934897674506	0.08844	0.11134093437515433	0.11063	.	.	0.276891231537	0.07062	T	0.02764	0.20200	T	-0.64631	0.00076	T	-0.688832	0.06457	T	0.00327356611129953	0.00035	T	0.147285	0.02320	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.;.;.	.;.;.	0.267098	0.06449	2.924	0.71598477258151616	0.09683	0.08141	0.14106	N	AEFDBHCI	.	.	.	-1.27827101884753	0.03938	0.1768414	-1.3415864215063	0.03906	0.1831686	0.999975975034682	0.50053	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	3.3	-2.04	0.06937	-1.400000	0.02610	-4.445000	0.02153	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.2544:0.164:0.5816	4.728	0.12331	71	0.96981	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1009.98	34	chr1	155188521	.	T	G	1009.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=0.438;SOR=0.685	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr1	155189519	155189578	GCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCTCTC	-	exonic	MUC1	.	nonframeshift deletion	MUC1:NM_001371720:exon6:c.2043_2102del:p.R682_A701del,	Medullary cystic kidney disease 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0223	0.0008	0.0190	0.0249	0.0357	0.0156	0.0134	0.0163	0.0136	0	0	0	0.0357	0.0305	0	0.0246	0	0	0	0.0016	0	0	.	0	0	.	.	0	.	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03846	144.27	16	chr1	155189518	.	GGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCTCTC	G	144.27	.	AC=1;AF=0.038;AN=26;DP=307;ExcessHet=0.0000;FS=3.136;InbreedingCoeff=-0.1544;MLEAC=2;MLEAF=0.077;MQ=39.91;MQRankSum=-5.660e-01;QD=20.61;SOR=1.492	GT:AD:DP:GQ:PL	0/1:3,4:7:42:154,0,42	12	0	1	8
chr1	155191933	155191933	C	T	exonic	MUC1	.	nonsynonymous SNV	MUC1:NM_001204285:exon2:c.G409A:p.G137S	Medullary cystic kidney disease 1, Autosomal dominant	.	443	1076	1	0	2	3	0.000464468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	1.0	D	0.994	D	0.002	N	1.000	N	-0.55	N	2.11	T	-0.965	T	0.011	T	0.038	-0.067	3.673	-5.88	-3.322	-4.990	3.952	0.103	0.00653422800246	.	.	0	0	0	0	0	0	0	0	.	.	.	rs1222481008	2.727e-05	2.808e-05	1.774e-05	3.727e-05	0.0003	1.996e-05	1.771e-05	0.0002	0.0002	0	0	0	0	0	0.0003	9.6e-06	3.647e-05	0.0003	2.298e-05	2.133e-05	1.47e-05	3.198e-05	0.0005	6.11e-06	2.69e-06	8.695e-05	3.613e-05	2.9e-05	0	0	0	0	0	0	0	0	0.0005	.	.	.	1.0	0.07766	T	.	.	.	.	.	.	0.002278	0.00873	N	4.717970	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.024	0.00882	-0.9654	0.38132	T	0.011	0.04321	T	10	0.048564732	0.04325	T	0.006534	0.17215	T	.	.	0.276	0.22845	0.519533312159	0.51597	0.12388883932846598	0.12314	.	.	0.280402958393	0.07548	T	0.006684	0.06107	T	-0.370519	0.03568	T	-0.770002	0.02768	T	0.0781873775444067	0.09753	T	0.234876	0.08694	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.27493	B	.;.;.	.;.;.	-0.640314	0.01465	0.090	0.82260271442365585	0.14100	0.00557	0.02543	N	AEFBI	0.093806	0.18976	N	-1.47446451941878	0.02032	0.08928689	-1.73013384257802	0.01010	0.04529168	0.999999752216489	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	2.94	-5.88	0.02100	-4.106000	0.00333	-20.000000	0.00162	-0.626000	0.04528	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0972:0.1839:0.449:0.2699	3.952	0.08869	71	0.96981	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	621.98	42	chr1	155191933	.	C	T	621.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.09;DP=785;ExcessHet=0.0000;FS=3.166;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.08;MQRankSum=1.67;QD=15.95;ReadPosRankSum=1.18;SOR=1.402	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1575	20	0	1	0
chr1	155247852	155247852	C	T	exonic	FAM189B	.	nonsynonymous SNV	FAM189B:NM_198264:exon9:c.G1649A:p.R550H	.	.	416	1101	5	0	0	5	0.00226552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.997	D	0.000	D	0.608	N	0.55	N	3.89	T	-0.966	T	0.013	T	0.461	4.402	23.3	4.51	2.517	3.605	15.164	0.045	.	0.0002	0.00958466	0.0168	0	0.0020	0.0976	0.1083	0.0036	0.0408	0.0027	0.0038939	602	154602	rs2072648	0.0034	0.0034	0.0035	0.0034	0.0681	0.0034	0.0033	0.0658	0.0649	0	0.0002	0	0.0681	0.0319	0	0.0003	0.0030	0.0018	0.0045	0.0045	0.0027	0.0063	0.0441	0.0042	0.0041	0.0394	0.0376	9.62e-05	0	0.0003	0	0.0441	0.0350	0	0.0007	0.0028	0.0037	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.989	0.78396	D	0.000090	0.51296	D	0.000000	0.60774	0.30887	N	0.46	0.12951	N	3.89	0.03544	T	-0.6	0.22294	N	0.192	0.21056	-0.9662	0.37974	T	0.013	0.04890	T	10	0.0025410056	0.00038	T	.	.	.	0.183	0.45592	.	.	0.490352026379	0.48669	0.23767095121189646	0.23681	0.491203572652	0.47817	0.530864298344	0.43156	T	0.006491	0.05922	T	-0.492104	0.00633	T	-0.407583	0.32504	T	0.0761791280700723	0.09492	T	.	.	.	0.28279686	0.51315	0.2224794	0.47094	0.28279686	0.51315	0.2224794	0.47093	-4.786	0.34428	T	.	.	0.124	0.34316	B	.;.;.	.;.;.	3.858666	0.55945	23.7	0.99950056111878038	0.99938	0.95904	0.66656	D	AEFDBI	0.340160	0.43707	N	0.446140609408612	0.63985	4.643146	0.449401511807709	0.64677	4.728613	0.999877987710601	0.44625	0.706298	0.61202	0	0.709663	0.81188	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	4.51	4.51	0.54589	2.654000	0.46363	7.529000	0.59886	0.598000	0.34611	0.731000	0.28933	1.000000	0.68203	0.955000	0.50612	0.0:1.0:0.0:0.0	15.164	0.72489	41	0.97903	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1043.98	36	chr1	155247852	.	C	T	1043.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.361;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.84;ReadPosRankSum=0.121;SOR=0.821	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr1	155250323	155250323	A	G	exonic	FAM189B	.	nonsynonymous SNV	FAM189B:NM_198264:exon6:c.T1175C:p.L392P	.	.	423	1059	38	2	0	42	0.0194444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.998	D	0.000	D	1.000	D	0	N	3.82	T	-0.779	T	0.009	T	0.668	4.104	21.1	4.21	1.917	2.601	11.607	0.146	.	0.0018	0.00658946	0.0203	0.0005	0.0063	0	0	0.0110	0	0.0350	0.0029819	461	154602	rs142630415	0.0050	0.0048	0.0040	0.0060	0.0323	0.0049	0.0048	0.0313	0.0309	0.0007	0.0017	0.0243	2.824e-05	0.0010	0.0130	0.0030	0.0057	0.0323	0.0037	0.0037	0.0033	0.0041	0.0326	0.0034	0.0033	0.0285	0.0269	0.0007	0.0275	0.0020	0.0261	0	0.0009	0	0.0031	0.0043	0.0326	0.027	0.46513	D	0.014	0.63918	D	0.997	0.70673	D	0.991	0.79672	D	0.000286	0.46274	D	0.000000	0.999995	0.58761	D	0.975	0.24501	L	3.82	0.03728	T	-0.11	0.15178	N	0.488	0.57433	-0.7789	0.56364	T	0.009	0.03448	T	10	0.0054880977	0.00121	T	.	.	.	0.146	0.38789	.	.	0.242244723065	0.23846	0.7644931943960813	0.76397	3.96447962958	0.99874	0.803799211979	0.82543	D	0.015217	0.12804	T	-0.380399	0.03098	T	-0.294818	0.45268	T	0.0244990517566369	0.01208	T	.	.	.	0.17293428	0.38012	0.25629476	0.51326	0.17293428	0.38011	0.25629476	0.51325	-3.986	0.24802	T	.	.	0.217	0.44643	B	.;.;.	.;.;.	4.672397	0.74688	26.2	0.99891294729488611	0.96513	0.76327	0.37426	D	AEFDBCI	0.499244	0.53301	N	0.323016245965236	0.57332	3.900123	0.341837613117233	0.58017	3.970009	0.999999994130709	0.74766	0.706548	0.73137	0	0.52208	0.09955	0	0.581341	0.30212	0	0.714379	0.83352	0	.	.	4.21	4.21	0.48984	2.412000	0.44263	8.974000	0.78479	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	11.607	0.50292	41	0.97903	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	867.11	30	chr1	155250323	.	A	G	867.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.820e-01;DP=717;ExcessHet=0.1072;FS=0.890;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.56;ReadPosRankSum=-2.590e-01;SOR=0.556	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1135	19	0	2	0
chr1	155270968	155270968	G	A	exonic	CLK2	.	nonsynonymous SNV	CLK2:NM_001294338:exon2:c.C10T:p.P4S	.	.	414	1101	6	1	0	8	0.00361991	.	.	2330524	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.002	N	0.937	N	-2.05	N	0.85	T	-0.944	T	0.008	T	0.093	0.230	5.240	4.57	2.551	5.050	7.123	0.101	0.00154113414509	7.7e-05	.	4.948e-05	0	0	0	0	7.504e-05	0	6.06e-05	3.88e-05	6	154602	rs377306413	7.415e-05	7.456e-05	6.138e-05	8.709e-05	8.307e-05	6.27e-05	5.828e-05	6.899e-05	6.394e-05	0	4.484e-05	0	0	1.874e-05	0	8.307e-05	0.0001	4.643e-05	7.222e-05	7.217e-05	5.139e-05	9.398e-05	0.0002	3.968e-05	3.125e-05	9.046e-05	7.011e-05	0	0	0	0	0	0	0	0.0002	0	0	1.0	0.01963	T	0.998	0.02399	T	0.0	0.02946	B	0.0	0.01387	B	0.001549	0.38671	N	0.277120	0.936938	0.26904	N	-1.3	0.00713	N	0.84	0.47477	T	1.27	0.01121	N	0.292	0.33578	-0.9436	0.42041	T	0.008	0.02842	T	10	0.037094444	0.02044	T	0.001541	0.02420	T	0.101	0.28911	.	.	0.143184338766	0.13958	0.12175589888458202	0.12102	0.391853242021	0.40381	0.477790176868	0.35752	T	0.037788	0.24604	T	-0.396225	0.02451	T	-0.591591	0.13528	T	0.058528552901347	0.06935	T	.	.	.	0.051892605	0.09598	0.061061952	0.11730	0.051892605	0.09598	0.061061952	0.11730	-0.71	0.00729	T	.	.	0.070	0.06114	B	.;.;.	.;.;.	2.863341	0.37839	20.6	0.50159114061411592	0.04335	0.92982	0.57028	D	AEFBI	0.438159	0.49767	N	-0.551444855444704	0.20438	1.077434	-0.230687405723185	0.30442	1.714097	0.999989626395671	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.57	4.57	0.55860	5.080000	0.64267	11.751000	0.95409	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1842:0.0:0.8158:0.0	7.123	0.24632	44	0.97806	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	496.98	41	chr1	155270968	.	G	A	496.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.693;DP=730;ExcessHet=0.0000;FS=1.480;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.20;ReadPosRankSum=-1.139e+00;SOR=1.071	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1208	20	0	1	0
chr1	155294721	155294721	G	C	exonic	PKLR	.	nonsynonymous SNV	PKLR:NM_000298:exon6:c.C726G:p.N242K	Adenosine triphosphate, elevated, of erythrocytes, Autosomal dominant;Pyruvate kinase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.988	D	0.938	D	0.045	N	1.000	D	3.595	H	-6.06	D	1.135	D	0.979	D	0.166	3.887	19.76	-2.68	-0.388	-1.880	10.45	0.595	0.341655260524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.001	0.83351	D	0.888	0.48822	P	0.849	0.60615	P	0.045237	0.23558	N	0.450322	0.999594	0.51042	D	3.54	0.93167	H	-6.06	0.99508	D	-4.82	0.80851	D	0.657	0.66700	1.135	0.99931	D	0.979	0.99346	D	10	0.9393281	0.93260	D	0.341655	0.92031	D	0.595	0.83911	0.792	0.91365	0.985644177017	0.98549	0.7165873046540892	0.71601	0.790516795054	0.65765	0.410496234894	0.26526	T	0.971683	0.99695	D	0.102082	0.64518	D	-0.0911432	0.64076	T	0.989753603935242	0.79975	D	.	.	.	0.74374044	0.80507	0.74636203	0.85007	0.74374044	0.80509	0.74636203	0.85008	-11.003	0.79675	D	.	.	0.549	0.72303	A	.;.	.;.	0.823468	0.11949	8.508	0.99606787017520437	0.74575	0.39501	0.26227	N	AEFDGBI	0.672841	0.63910	D	-0.0554302015315701	0.39360	2.319855	-0.319881123795168	0.27457	1.523694	0.999993969169761	0.74766	0.652421	0.48094	0	0.59043	0.45803	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.48	-2.68	0.05686	-1.603000	0.02181	-6.086000	0.01501	-0.174000	0.10959	0.000000	0.06391	0.000000	0.08366	0.371000	0.26133	0.6995:0.0:0.3005:0.0	10.45	0.43702	40	0.97949	Pyruvate kinase, barrel;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1562.98	34	chr1	155294721	.	G	C	1562.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.27;DP=802;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.45;ReadPosRankSum=-1.166e+00;SOR=0.770	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr1	155309931	155309931	C	T	exonic	FDPS	.	nonsynonymous SNV	FDPS:NM_001135821:exon2:c.C142T:p.R48C	Porokeratosis 9, multiple types	.	427	1089	5	1	0	7	0.00320366	.	.	3208025	FDPS-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.985	D	.	.	1.000	D	0.695	N	1.1	T	-0.991	T	0.090	T	0.334	3.924	19.96	3.1	1.012	2.244	9.797	0.193	.	0.0079	0.00499201	0.0046	0.0281	0.0045	0	0.0035	0.0030	0.0051	0.0003	0.0030853	477	154602	rs35362111	0.0023	0.0023	0.0024	0.0021	0.0192	0.0022	0.0022	0.0180	0.0175	0.0192	0.0029	0.0007	0	0.0010	0.0030	0.0020	0.0030	0.0002	0.0066	0.0067	0.0068	0.0065	0.0190	0.0063	0.0062	0.0179	0.0175	0.0190	0	0.0033	0.0014	0	0.0016	0	0.0019	0.0080	0.0002	0.0	0.91255	D	0.01	0.92824	D	1.0	0.90584	D	0.985	0.76457	D	.	.	.	.	0.806336	0.81001	D	2.125	0.59049	M	1.1	0.39050	T	-0.31	0.12099	N	0.682	0.68863	-0.9910	0.32347	T	0.090	0.34628	T	9	0.005872637	0.00131	T	.	.	.	0.193	0.47281	.	.	0.592282861509	0.58905	0.23138498350767142	0.23053	1.16536892638	0.79601	0.583023130894	0.50511	T	0.115176	0.43357	T	-0.401299	0.02270	T	-0.332958	0.41139	T	0.0367789536486905	0.03118	T	0.893011	0.63001	D	0.1941077	0.41148	0.20554064	0.44728	0.2057332	0.42724	0.21557797	0.46151	-5.647	0.43219	T	.	.	0.279	0.51209	B	.;.;.;.	.;.;.;.	4.802974	0.78054	26.8	0.99913485058176965	0.98238	0.71325	0.34964	D	ALL	0.327531	0.42847	N	0.281358203654871	0.55203	3.684616	0.250602851786077	0.52683	3.441574	0.999999995794113	0.74766	0.660085	0.49399	0	0.52208	0.09955	0	0.662677	0.59975	0	0.56214	0.19341	0	.	.	4.03	3.1	0.34780	2.324000	0.43491	4.425000	0.43330	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.79:0.21:0.0	9.797	0.39907	40	0.97949	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	750.98	33	chr1	155309931	.	C	T	750.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=758;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.65;ReadPosRankSum=0.741;SOR=0.610	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1471	20	0	1	0
chr1	155320470	155320470	T	A	exonic	FDPS	.	nonsynonymous SNV	FDPS:NM_001242825:exon9:c.T608A:p.L203Q	Porokeratosis 9, multiple types	.	430	1083	9	0	0	9	0.00413793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.895	P	0.064	N	1.000	D	3.07	M	-0.33	T	-0.113	T	0.403	T	0.562	2.739	15.12	3.24	1.713	6.905	9.862	0.477	0.164527758541	0.0020	0.00119808	0.0022	0.0003	0.0002	0.0001	0.0014	0.0033	0.0011	0.0015	0.0022186	343	154602	rs61740152	0.0022	0.0022	0.0023	0.0022	0.0026	0.0022	0.0021	0.0026	0.0025	0.0005	0.0005	0.0002	0	0.0008	0.0020	0.0026	0.0020	0.0015	0.0017	0.0017	0.0020	0.0014	0.0029	0.0015	0.0014	0.0026	0.0025	0.0003	0	0.0016	0	0	0.0009	0.0034	0.0029	0.0014	0.0010	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.895	0.63489	P	0.064474	0.21951	N	0.229223	0.999996	0.58761	D	3.34	0.90961	M	-0.33	0.68329	T	-4.84	0.81030	D	0.623	0.67908	-0.1131	0.79795	T	0.403	0.75366	T	10	0.028853327	0.01014	T	0.164528	0.84361	D	0.477	0.76881	.	.	0.8772681325	0.87607	0.6823627310858766	0.68175	0.589853465164	0.54468	0.376375943422	0.21742	T	0.222246	0.92214	T	-0.206177	0.19922	T	-0.0710416	0.65551	T	0.0956143582361662	0.11867	T	0.852015	0.59406	D	0.84763294	0.87161	0.86183953	0.92305	0.84763294	0.87162	0.86183953	0.92305	-13.089	0.90940	D	0.5888883378111605	0.65567	0.633	0.70231	P	.;.;.;.;.;.	.;.;.;.;.;.	4.930458	0.81284	27.5	0.9943368253449838	0.64374	0.97266	0.73678	D	AEFBHCI	0.929440	0.91520	D	0.553478176502661	0.70295	5.480513	0.401260482501789	0.61642	4.367358	0.99999999805431	0.74766	0.72623	0.87236	0	0.698795	0.70079	0	0.594344	0.31042	0	0.735409	0.98432	0	.	.	3.24	3.24	0.36257	6.877000	0.75363	6.123000	0.53812	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.764000	0.36293	0.0:0.0:0.0:1.0	9.862	0.40287	41	0.97903	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1623.98	34	chr1	155320470	.	T	A	1623.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.130e-01;DP=817;ExcessHet=0.0000;FS=4.984;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.18;ReadPosRankSum=0.134;SOR=1.246	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1192	20	0	1	0
chr1	155479056	155479056	G	A	exonic	ASH1L	.	nonsynonymous SNV	ASH1L:NM_001366177:exon3:c.C3814T:p.R1272W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	0.895	L	-3.24	D	0.723	D	0.777	D	0.726	3.100	16.36	5.2	2.705	6.201	13.428	0.607	0.181051740986	.	.	3.299e-05	0.0002	0	0	0	1.499e-05	0	6.061e-05	2.59e-05	4	154602	rs750816124	6.157e-06	6.156e-06	8.168e-06	4.126e-06	1.159e-05	2.9e-06	2.1e-06	2.62e-06	1.68e-06	0	0	3.826e-05	0	0	0	6.295e-06	0	1.159e-05	1.975e-05	1.971e-05	2.573e-05	1.348e-05	7.262e-05	5.25e-06	2.46e-06	1.925e-05	1.034e-05	7.262e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.92359	D	0.000001	0.84330	D	0.000000	0.999728	0.48557	D	0.975	0.24501	L	-3.24	0.93474	D	-4.27	0.76254	D	0.749	0.78832	0.723	0.93463	D	0.777	0.92419	D	10	0.690878	0.71847	D	0.181052	0.85530	D	0.607	0.84559	0.194	0.10571	0.851528812338	0.85009	0.46747132932594393	0.46666	0.82108312347	0.67176	0.900439381599	0.96489	D	0.276391	0.64897	T	0.133653	0.67715	D	0.190875	0.82618	D	0.913520932197571	0.56982	D	0.975102	0.91204	D	0.51067495	0.67718	0.4294974	0.66630	0.51067495	0.67719	0.4294974	0.66630	-9.833	0.72906	D	.	.	0.856	0.81058	P	.;.	.;.	5.979800	0.94247	34	0.99907471733046893	0.97801	0.95505	0.64988	D	AEFDBCI	0.792390	0.72070	D	0.658213396327153	0.76901	6.572712	0.680068719345204	0.80867	7.395393	0.999999977737947	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.759307	0.98198	0	0.727631	0.95156	0	.	.	5.2	5.2	0.71720	5.396000	0.66042	8.721000	0.78162	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.8056:0.1944	13.428	0.60484	52	0.97609	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2450.98	38	chr1	155479056	.	G	A	2450.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=938;ExcessHet=0.0000;FS=1.132;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-5.000e-01;SOR=0.819	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr1	155736985	155736985	G	A	exonic	DAP3	.	nonsynonymous SNV	DAP3:NM_001199850:exon11:c.G931A:p.V311I	.	.	429	1075	16	2	0	20	0.00921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.562	P	0.369	B	0.000	N	1.000	D	1.67	L	0.44	T	-0.941	T	0.109	T	0.129	3.320	17.16	4.35	1.419	5.526	12.782	0.078	.	0.0048	0.00279553	0.0052	0.0019	0.0066	0.0002	0.0014	0.0071	0.0121	0.0022	0.0051552	797	154602	rs41264967	0.0061	0.0061	0.0060	0.0061	0.0189	0.0060	0.0059	0.0160	0.0149	0.0017	0.0054	0.0033	2.52e-05	0.0014	0.0189	0.0069	0.0067	0.0026	0.0050	0.0050	0.0050	0.0049	0.0094	0.0047	0.0046	0.0081	0.0076	0.0014	0	0.0094	0.0035	0	0.0009	0.0102	0.0075	0.0062	0.0019	0.133	0.29029	T	0.073	0.43344	T	0.562	0.38380	P	0.369	0.43514	B	0.000002	0.62929	N	0.059383	0.999979	0.81001	D	2.12	0.58754	M	0.44	0.56609	T	-0.82	0.22508	N	0.144	0.15469	-0.9405	0.42536	T	0.109	0.39509	T	10	0.006095886	0.00137	T	.	.	.	0.078	0.22779	.	.	0.177238962908	0.17366	0.5527289742262145	0.55198	0.285031543082	0.30913	0.424291908741	0.28427	T	0.157525	0.50016	T	-0.475524	0.00786	T	-0.450706	0.27618	T	0.0373678571600398	0.03221	T	0.760924	0.47282	T	0.041589677	0.06152	0.053059533	0.08865	0.041589677	0.06152	0.053059533	0.08864	-3.823	0.26534	T	.	.	0.092	0.20780	B	.;.;.;.;.;.	.;.;.;.;.;.	3.455295	0.48139	22.6	0.99417193392196113	0.63597	0.95591	0.65334	D	AEFGBI	0.664566	0.63369	D	0.19180980770286	0.50805	3.26717	0.282922501680218	0.54541	3.618891	0.775429456120125	0.23744	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	4.35	0.51454	5.446000	0.66347	7.197000	0.57788	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0803:0.0:0.9197:0.0	12.782	0.56859	68	0.97118	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	758.98	35	chr1	155736985	.	G	A	758.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.789e+00;DP=812;ExcessHet=0.0000;FS=0.806;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.25;ReadPosRankSum=-5.830e-01;SOR=0.593	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1163	20	0	1	0
chr1	155752120	155752120	C	T	exonic	GON4L	.	nonsynonymous SNV	GON4L:NM_001282856:exon30:c.G6313A:p.E2105K	.	.	0	1450	67	5	0	77	0.025865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.634	P	0.234	B	0.069	N	1.000	D	1.39	L	2.74	T	-1.019	T	0.014	T	0.411	4.129	21.3	4.66	2.439	2.700	15.177	0.066	.	0.0025	0.00579073	0.0062	0.0004	0.0026	0.0002	0.0003	0.0042	0.0089	0.0253	0.0052328	809	154602	rs201235180	0.0040	0.0040	0.0033	0.0048	0.0233	0.0040	0.0039	0.0224	0.0221	0.0006	0.0023	0.0126	7.557e-05	0.0004	0.0163	0.0027	0.0050	0.0233	0.0035	0.0035	0.0033	0.0038	0.0214	0.0033	0.0032	0.0180	0.0168	0.0008	0.0033	0.0060	0.0153	0	9.42e-05	0.0034	0.0036	0.0033	0.0214	0.059	0.37750	T	0.472	0.12176	T	0.501	0.40281	P	0.118	0.38393	B	0.069109	0.21627	N	0.393081	0.688873	0.33306	D	1.5	0.37844	L	2.74	0.11730	T	-0.91	0.24460	N	0.2	0.22098	-1.0192	0.23975	T	0.014	0.05705	T	10	0.0030045211	0.00049	T	.	.	.	0.066	0.19193	.	.	0.225033846419	0.22103	0.22807142473717912	0.22722	2.18874785332	0.95615	0.369694828987	0.20788	T	0.084368	0.37264	T	-0.494657	0.00613	T	-0.465063	0.26050	T	0.0188610296394352	0.00597	T	0.762524	0.38803	T	0.10332762	0.24422	0.089615405	0.20966	0.10332762	0.24422	0.089615405	0.20966	-2.751	0.07742	T	.	.	0.089	0.12228	B	.;.;.;.	.;.;.;.	2.628840	0.34181	19.55	0.9976408111968329	0.85335	0.93716	0.58987	D	AEFGBI	0.207875	0.33400	N	-0.089953946318772	0.37831	2.206798	-0.0311092840130838	0.38317	2.255807	0.826733732227707	0.24620	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.66	4.66	0.57857	3.138000	0.50265	1.270000	0.25285	0.591000	0.32079	0.676000	0.28402	0.705000	0.26257	0.539000	0.29915	0.0:1.0:0.0:0.0	15.177	0.72599	68	0.97118	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3196.11	43	chr1	155752120	.	C	T	3196.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.51;DP=987;ExcessHet=0.1072;FS=3.078;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=55.72;MQRankSum=0.656;QD=14.87;ReadPosRankSum=0.918;SOR=0.902	GT:AD:DP:GQ:PL	0/1:51,62:113:99:1826,0,1368	19	0	2	0
chr1	155900413	155900413	C	T	exonic	RIT1	.	nonsynonymous SNV	RIT1:NM_001256820:exon5:c.G527A:p.R176Q	Noonan syndrome 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1325132	Noonan_syndrome_8|Cardiovascular_phenotype|Noonan_syndrome_and_Noonan-related_syndrome	MONDO:MONDO:0014143,MedGen:C3809233,OMIM:615355,Orphanet:648|MedGen:CN230736|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.364	B	0.011	B	0.015	N	0.992	D	0	N	0.24	T	-1.025	T	0.068	T	0.422	3.603	18.34	5.13	2.665	3.632	18.359	0.068	0.00967116136273	.	.	5.767e-05	9.612e-05	0	0	0	1.499e-05	0	0.0003	4.53e-05	7	154602	rs764347644	3.079e-05	3.215e-05	2.042e-05	4.126e-05	0.0003	2.347e-05	2.095e-05	0.0002	0.0002	5.975e-05	0.0002	0	5.038e-05	0	0	6.296e-06	1.656e-05	0.0003	5.916e-05	5.911e-05	7.711e-05	4.036e-05	0.0006	3.078e-05	2.211e-05	0.0002	9e-05	7.241e-05	0	0.0001	0	0	0	0	1.47e-05	0	0.0006	0.028	0.50676	D	0.108	0.42976	T	0.364	0.33988	B	0.011	0.15521	B	0.015085	0.28344	N	0.277746	0.991843	0.41489	D	0	0.06538	N	-0.18	0.65747	T	-0.86	0.25118	N	0.319	0.42149	-1.0254	0.21952	T	0.068	0.27777	T	10	0.092461884	0.16284	T	0.009671	0.25267	T	0.068	0.19811	.	.	0.528917257038	0.52539	0.5239727958171749	0.52321	0.897822466154	0.70527	0.570383906364	0.48731	T	0.201293	0.55913	T	-0.234553	0.16052	T	-0.282547	0.46544	T	0.0307686324350781	0.02110	T	0.832517	0.50110	T	0.16185741	0.36223	0.100557	0.24048	0.16185741	0.36223	0.100557	0.24047	-6.998	0.54019	T	.	.	0.107	0.21987	B	.;.;.	.;.;.	3.577114	0.50415	22.9	0.99882151246915141	0.95813	0.85623	0.44775	D	AEFDGBHCI	0.324589	0.42643	N	-0.029855942118132	0.40507	2.406731	0.167347021362149	0.48069	3.02787	0.999999969834434	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.13	5.13	0.69729	3.483000	0.52958	4.812000	0.45049	0.545000	0.25583	0.999000	0.42656	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.359	0.90313	67	0.97183	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1354.98	37	chr1	155900413	.	C	T	1354.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.31;DP=843;ExcessHet=0.0000;FS=1.422;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.68;ReadPosRankSum=-1.420e-01;SOR=0.881	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1475	20	0	1	0
chr1	155921500	155921500	G	C	exonic	KHDC4	.	nonsynonymous SNV	KHDC4:NM_014949:exon10:c.C1141G:p.P381A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.738	P	0.3	B	0.000	D	1.000	N	0.345	N	.	.	-1.062	T	0.022	T	0.567	2.756	15.18	5.62	2.644	7.051	12.588	0.114	0.0104981790785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40319	T	0.064	0.48080	T	0.489	0.42905	P	0.3	0.41053	B	0.000012	0.62929	D	0.115263	0.999905	0.50806	D	.	.	.	.	.	.	-1.0	0.28497	N	0.564	0.60833	-1.0620	0.11263	T	0.022	0.09513	T	9	0.29973656	0.47524	T	0.010498	0.27109	T	0.114	0.32008	0.144	0.04746	0.138757226776	0.13463	0.3007201865435345	0.29985	0.471083547616	0.46372	0.765291333199	0.76719	T	0.054912	0.29859	T	0.0523718	0.58649	T	-0.162548	0.58122	T	0.763648390769958	0.44063	D	0.889911	0.62289	D	0.09259084	0.21726	0.08401885	0.19299	0.09259084	0.21725	0.08401885	0.19298	-5.735	0.44092	T	.	.	0.134	0.29144	B	.;.	.;.	4.194628	0.63243	24.6	0.97765042363915189	0.35832	0.95946	0.66841	D	AEFDGBCI	0.709060	0.66327	D	-0.1879906126342	0.33632	1.910371	0.0747278044820216	0.43281	2.633213	0.999999852638163	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.62	5.62	0.85714	6.874000	0.75347	11.772000	0.95887	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0765:0.0:0.9235:0.0	12.588	0.55779	73	0.96914	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1197.98	33	chr1	155921500	.	G	C	1197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.300e-01;DP=786;ExcessHet=0.0000;FS=0.805;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.61;ReadPosRankSum=0.455;SOR=0.577	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1145	20	0	1	0
chr1	155925716	155925716	T	C	exonic	KHDC4	.	nonsynonymous SNV	KHDC4:NM_014949:exon7:c.A809G:p.K270R,	.	.	439	1082	1	0	0	1	0.000461894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.921	P	0.849	P	0.000	D	1.000	D	0.79	N	0.92	T	-1.063	T	0.091	T	0.903	4.421	23.5	5.82	2.221	7.694	15.842	0.288	0.0113262767226	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1242900718	1.368e-06	1.368e-06	2.722e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.17	0.30436	T	0.048	0.51088	B	0.078	0.60615	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.92	0.44461	T	-0.67	0.21429	N	0.767	0.76481	-1.0627	0.11093	T	0.091	0.34901	T	10	0.47397068	0.60031	T	0.011326	0.28845	T	0.288	0.60691	0.377	0.39156	0.694625678026	0.69199	0.7761950758471396	0.77569	1.00100662246	0.74402	0.779058158398	0.78785	T	0.092	0.38954	T	0.0861341	0.62751	D	0.0550774	0.73918	D	0.549800495838612	0.34470	D	0.927407	0.73262	D	0.21434891	0.43839	0.19034882	0.42432	0.21434891	0.43838	0.19034882	0.42431	-4.676	0.43889	T	.	.	0.169	0.38747	B	.;.;.	.;.;.	3.684836	0.52465	23.2	0.99857249666015868	0.93639	0.98805	0.87082	D	AEFDGBI	0.886207	0.81740	D	0.187114982737349	0.50579	3.246657	0.359386689858783	0.59076	4.08239	0.99999999999672	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.82	5.82	0.92740	7.670000	0.82907	7.817000	0.69620	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.842	0.78635	75	0.96833	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2366.98	37	chr1	155925716	.	T	C	2366.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.640e-01;DP=922;ExcessHet=0.0000;FS=4.234;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=-5.460e-01;SOR=0.451	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr1	156011822	156011822	G	C	exonic	SSR2	.	nonsynonymous SNV	SSR2:NM_003145:exon5:c.C429G:p.F143L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.984	D	0.87	P	0.000	D	1.000	D	2.555	M	.	.	-0.257	T	0.378	T	0.881	2.778	15.25	5.55	2.894	4.402	17.055	0.184	0.18042830021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.568e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.91255	D	0.031	0.55341	D	0.984	0.60733	D	0.87	0.61806	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.79	0.81396	M	.	.	.	-5.39	0.85994	D	0.84	0.83576	-0.2573	0.76161	T	0.378	0.73580	T	9	0.9662193	0.96110	D	0.180428	0.85489	D	0.551	0.81427	0.936	0.99075	0.416446257289	0.41261	0.8283436009707257	0.82792	1.40670516952	0.85333	0.792496502399	0.80822	T	0.534141	0.83931	D	0.416006	0.90809	D	0.359788	0.90695	D	0.99421751499176	0.85377	D	0.939106	0.80601	D	0.76359487	0.81666	0.72925085	0.84003	0.76359487	0.81667	0.72925085	0.84004	-10.5	0.76847	D	.	.	1.000	0.99795	P	.;.;.	.;.;.	5.067605	0.84496	28.3	0.91990689601245867	0.21324	0.98329	0.81685	D	AEFGBI	0.901337	0.84791	D	0.542252554756067	0.69612	5.381701	0.583687799372267	0.73772	6.02523	0.999999999487927	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.55	5.55	0.83298	4.832000	0.62449	6.328000	0.55455	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	17.055	0.86406	196	0.92420	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3929	2240.58	53	chr1	156011822	.	G	A,C	2240.58	.	AC=10,1;AF=0.357,0.036;AN=28;BaseQRankSum=-2.019e+00;DP=1509;ExcessHet=7.7275;FS=191.539;InbreedingCoeff=-0.5270;MLEAC=13,1;MLEAF=0.464,0.036;MQ=60.00;MQRankSum=0.00;QD=2.34;ReadPosRankSum=0.481;SOR=10.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,21,0:92:99:0|1:156011822_G_A:209,0,2194,420,2256,2676:156011822	3	0	10	7
chr1	156011827	156011827	G	A	exonic	SSR2	.	stopgain	SSR2:NM_003145:exon5:c.C424T:p.R142X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	3.843	19.52	3.24	0.516	1.520	12.276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.942	0.94904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574913	0.96804	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.	High;High;.	9.926211	0.99439	44	0.99213921751579504	0.55685	0.88238	0.48077	D	AEFGBI	0.118731	0.23204	N	0.572417952431753	0.71458	5.653797	0.410843908091509	0.62240	4.436054	0.999968225531357	0.48965	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.55	3.24	0.36257	1.712000	0.37560	0.938000	0.22831	0.618000	0.50648	1.000000	0.71638	0.996000	0.32793	0.982000	0.59238	0.0:0.0:0.6097:0.3903	12.276	0.54054	196	0.92420	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	423.11	36	chr1	156011827	.	G	A	423.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.019e+00;DP=1075;ExcessHet=0.1072;FS=184.231;InbreedingCoeff=-0.0501;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=2.20;ReadPosRankSum=-7.000e-03;SOR=7.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,99,1485	19	0	2	0
chr1	156054929	156054929	G	A	exonic	LAMTOR2	.	nonsynonymous SNV	LAMTOR2:NM_001145264:exon1:c.G40A:p.A14T	Immunodeficiency due to defect in MAPBP-interacting protein, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.996	D	0.000	D	1.000	D	2.865	M	1.97	T	-0.916	T	0.138	T	0.669	6.143	37	5.71	2.698	8.710	17.351	0.346	0.0185649164438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.144	0.60972	T	1.0	0.90584	D	0.996	0.84481	D	0.000012	0.62929	D	0.110950	1	0.81001	D	2.575	0.75298	M	1.97	0.22067	T	-3.29	0.65742	D	0.691	0.84922	-0.9162	0.46063	T	0.138	0.45526	T	10	0.7180366	0.73476	D	0.018565	0.40677	T	0.346	0.66769	0.565	0.68633	0.440498838766	0.43668	0.7627941930191707	0.76227	1.92046280059	0.92997	0.874845743179	0.93253	D	0.229831	0.59576	T	0.0510922	0.58483	T	-0.164386	0.57955	T	0.994187712669373	0.85331	D	0.957954	0.84742	D	0.7992612	0.83858	0.79222816	0.87784	0.7992612	0.83860	0.79222816	0.87785	-8.051	0.61417	D	.	.	0.825	0.78486	P	.;.;.	.;.;.	5.123039	0.85695	28.7	0.99925559394156105	0.99042	0.97343	0.74151	D	ALL	0.952986	0.96890	D	0.935718139677664	0.93396	12.01226	0.903149664376153	0.95709	13.88725	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.71	5.71	0.89031	7.131000	0.76850	11.626000	0.93661	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	17.351	0.87213	316	0.87161	Roadblock/LAMTOR2 domain|Roadblock/LAMTOR2 domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1006.98	36	chr1	156054929	.	G	A	1006.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=783;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=0.678;SOR=0.608	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1283	20	0	1	0
chr1	156055306	156055306	G	C	exonic	LAMTOR2	.	nonsynonymous SNV	LAMTOR2:NM_001145264:exon2:c.G112C:p.G38R	Immunodeficiency due to defect in MAPBP-interacting protein, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.976	D	0.000	D	1.000	D	2.44	M	1.95	T	-0.974	T	0.097	T	0.585	5.265	33	4.79	1.408	9.174	13.594	0.307	0.0480975477347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.65419	D	0.045	0.63918	D	0.987	0.61912	D	0.959	0.70163	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.48	0.72069	M	1.95	0.22474	T	-4.24	0.79915	D	0.894	0.90025	-0.9744	0.36257	T	0.097	0.36522	T	10	0.822157	0.81413	D	0.048098	0.63219	D	0.307	0.62838	0.583	0.70990	0.447311733946	0.44353	0.8220067630651932	0.82157	2.38469603296	0.97034	0.938504099846	0.99398	D	0.243573	0.61253	T	-0.00131126	0.51474	T	-0.23966	0.50832	T	0.997294843196869	0.91218	D	0.965303	0.87759	D	0.8305876	0.85943	0.7516628	0.85322	0.8305876	0.85944	0.7516628	0.85322	-7.24	0.57815	T	.	.	0.952	0.87755	P	.;.;.	.;.;.	4.583486	0.72430	25.8	0.99907690349823841	0.97801	0.95012	0.63118	D	AEFDGBCI	0.965126	0.98738	D	0.804937273357267	0.86414	8.877847	0.767081267082154	0.87429	9.218367	0.999999999999234	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.7	4.79	0.60909	9.327000	0.96404	11.718000	0.94767	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0755:0.0:0.9245:0.0	13.594	0.61444	318	0.87072	Roadblock/LAMTOR2 domain|Roadblock/LAMTOR2 domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1071.98	36	chr1	156055306	.	G	C	1071.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.710;DP=865;ExcessHet=0.0000;FS=2.421;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.08;ReadPosRankSum=-1.334e+00;SOR=0.487	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr1	156154585	156154585	C	G	exonic	SEMA4A	.	nonsynonymous SNV	SEMA4A:NM_001370567:exon1:c.C7G:p.L3V	Cone-rod dystrophy 10, Autosomal recessive;Retinitis pigmentosa 35, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.455	P	0.078	B	0.157	N	1.000	D	0.895	L	2.27	T	-1.055	T	0.018	T	0.204	2.510	14.35	3.5	1.962	1.495	10.715	0.040	0.0138260769145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.859e-07	6.84e-07	1.365e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.0	0.92824	D	0.455	0.36245	P	0.078	0.28627	B	0.156885	0.17786	N	0.309128	1	0.81001	D	1.845	0.48678	L	2.07	0.20387	T	-0.42	0.14193	N	0.296	0.34659	-1.0550	0.13040	T	0.018	0.07329	T	10	0.109891176	0.20517	T	0.013826	0.33526	T	0.040	0.10527	0.209	0.12639	0.117191471859	0.11215	0.503710357357518	0.50293	0.318762690208	0.34097	0.421195149422	0.28001	T	0.055648	0.30064	T	-0.198052	0.21087	T	-0.522264	0.20066	T	0.301659911870956	0.25072	T	0.654634	0.26482	T	0.09972038	0.23538	0.082035966	0.18692	0.09972038	0.23537	0.082035966	0.18691	-3.784	0.20566	T	.	.	0.072	0.11797	B	.;.;.;.;.;.	.;.;.;.;.;.	2.644651	0.34418	19.62	0.99341776668497139	0.60210	0.69503	0.34213	D	ALL	0.220103	0.34490	N	-0.137893723744803	0.35751	2.057534	-0.0551820545162138	0.37265	2.179696	0.9999999973899	0.74766	0.653281	0.48532	0	0.52208	0.09955	0	0.675528	0.61593	0	0.613276	0.41899	0	.	.	3.5	3.5	0.39181	1.663000	0.37045	0.937000	0.22823	0.549000	0.26987	0.681000	0.28448	0.968000	0.29604	0.997000	0.79791	0.0:1.0:0.0:0.0	10.715	0.45204	489	0.76795	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	803.98	39	chr1	156154585	.	C	G	803.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.300e-01;DP=779;ExcessHet=0.0000;FS=2.992;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.18;ReadPosRankSum=-9.270e-01;SOR=0.600	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1303	20	0	1	0
chr1	156154712	156154712	A	G	exonic	SEMA4A	.	nonsynonymous SNV	SEMA4A:NM_001370567:exon1:c.A134G:p.Y45C	Cone-rod dystrophy 10, Autosomal recessive;Retinitis pigmentosa 35, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1002185	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.56	P	0.375	B	0.032	N	1.000	N	0.69	N	2.35	T	-1.032	T	0.015	T	0.357	2.650	14.82	-4.05	-0.528	-0.956	2.201	0.074	0.00395320162362	.	.	2.301e-05	0	0	0	0	4.49e-05	0	0	1.29e-05	2	154602	rs767886618	5.172e-05	5.267e-05	5.398e-05	4.942e-05	6.565e-05	4.215e-05	3.86e-05	5.32e-05	4.889e-05	0	0	0	2.573e-05	0	0	6.565e-05	1.682e-05	0	5.258e-05	5.254e-05	6.423e-05	4.037e-05	0.0001	2.558e-05	1.83e-05	5.843e-05	4.24e-05	0	0	0	0	0	0	0	0.0001	0	0	0.162	0.32453	T	0.2	0.33109	T	0.56	0.38344	P	0.375	0.43710	B	0.031839	0.01743	N	2.699270	1	0.20447	N	0.69	0.16971	N	2.14	0.19450	T	-1.22	0.31778	N	0.307	0.34659	-1.0323	0.19713	T	0.015	0.05897	T	10	0.07168448	0.10601	T	0.003953	0.09337	T	0.074	0.21613	.	.	0.123314135267	0.11883	0.5409649991807611	0.54021	0.368016935598	0.38361	0.320726394653	0.13531	T	0.062989	0.32060	T	-0.358334	0.04225	T	-0.55885	0.16485	T	0.0986715704202652	0.12211	T	0.20168	0.02372	T	0.07070128	0.15596	0.04404909	0.05620	0.07070128	0.15595	0.04404909	0.05620	-5.318	0.40121	T	0.1268651745352196	0.12887	0.089	0.12418	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.035619	0.14157	10.73	0.92780785123513287	0.22296	0.03469	0.08624	N	ALL	0.087528	0.17747	N	-0.84497429786754	0.12174	0.5917956	-0.988009762375628	0.10054	0.5039911	0.999999964874203	0.74766	0.615465	0.37627	0	0.52208	0.09955	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	3.71	-4.05	0.03730	-1.102000	0.03443	-2.460000	0.03727	-0.174000	0.10959	0.000000	0.06391	0.000000	0.08366	0.967000	0.53440	0.3073:0.4363:0.1046:0.1518	2.201	0.03683	489	0.76795	Sema domain;.;Sema domain;Sema domain;Sema domain;Sema domain;Sema domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	577.98	39	chr1	156154712	.	A	G	577.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=741;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.11;ReadPosRankSum=0.728;SOR=0.776	GT:AD:DP:GQ:PL	0/1:29,23:52:99:592,0,729	20	0	1	0
chr1	156242569	156242569	T	C	exonic	BGLAP;PMF1-BGLAP	.	nonsynonymous SNV	PMF1-BGLAP:NM_001199664:exon3:c.T374C:p.V125A	.	.	398	1111	13	0	0	13	0.00581655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.001	B	0.001	B	0.013	N	1.000	N	.	.	0.91	T	-1.094	T	0.021	T	0.121	2.445	14.13	-5.88	-1.148	-2.989	6.619	0.019	0.00436130373927	0.0014	0.00119808	0.0026	0.0007	0.0022	0	0	0.0016	0	0.0048	0.0013907	215	154602	rs35330985	0.0027	0.0026	0.0026	0.0028	0.0046	0.0026	0.0026	0.0042	0.0041	0.0004	0.0009	0.0002	0	0.0008	0.0026	0.0029	0.0020	0.0046	0.0020	0.0020	0.0020	0.0020	0.0056	0.0018	0.0017	0.0040	0.0034	0.0004	0	0.0020	0	0	0.0011	0	0.0031	0.0038	0.0056	0.016	0.51853	D	0.013	0.63109	D	.	.	.	.	.	.	0.012719	0.01343	N	2.752100	1	0.08975	N	.	.	.	0.49	0.55775	T	1.49	0.05125	N	0.151	0.30004	-1.0941	0.04884	T	0.021	0.08686	T	9	0.0056051314	0.00124	T	0.004361	0.10624	T	0.019	0.03383	.	.	0.302793454619	0.29890	0.04585283506902993	0.04529	0.357108017976	0.37442	0.404913425446	0.25752	T	.	.	.	-0.60425	0.00137	T	-0.639235	0.09724	T	0.0160264053849802	0.00383	T	0.189081	0.01998	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.24020	B	.;.	.;.	-0.186111	0.03161	0.514	0.8224852364650922	0.14094	0.00673	0.02898	N	AEFDGBCI	0.015157	0.00276	N	-1.5374040316263	0.01609	0.07034905	-1.64617073349561	0.01396	0.06307601	0.999999997225474	0.74766	0.634777	0.41761	0	0.694456	0.67091	0	0.643519	0.47002	0	0.508809	0.08732	0	.	.	4.3	-5.88	0.02100	-3.070000	0.00681	-2.808000	0.03340	-1.503000	0.01026	0.000000	0.06391	0.000000	0.08366	0.081000	0.17303	0.122:0.5891:0.1238:0.1651	6.619	0.21988	299	0.88026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	595.98	36	chr1	156242569	.	T	C	595.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.91;DP=774;ExcessHet=0.0000;FS=1.112;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=0.088;SOR=0.505	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1291	20	0	1	0
chr1	156244810	156244810	G	A	exonic	PAQR6	.	nonsynonymous SNV	PAQR6:NM_001272109:exon4:c.C44T:p.S15L	.	.	404	1060	53	5	0	63	0.0288594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0078	0.00539137	0.0075	0.0028	0.0040	0.0013	0.0013	0.0082	0.0103	0.0155	0.007115	1100	154602	rs62001925	0.0076	0.0076	0.0073	0.0079	0.0232	0.0075	0.0074	0.0200	0.0188	0.0018	0.0053	0.0135	0.0006	0.0010	0.0232	0.0074	0.0097	0.0160	0.0060	0.0060	0.0060	0.0059	0.0170	0.0057	0.0055	0.0140	0.0129	0.0023	0.0230	0.0070	0.0115	0.0017	0.0006	0.0340	0.0076	0.0114	0.0170	.	.	.	.	.	.	0.083	0.24734	B	0.017	0.18140	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.137	0.13484	.	.	.	.	.	.	.	0.0033493936	0.00058	T	.	.	.	.	.	.	.	0.458101713262	0.45433	.	.	.	.	.	.	.	0.00487	0.04291	T	-0.438103	0.01327	T	-0.389108	0.34655	T	.	.	.	0.320168	0.06459	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.56442	A	.;.;.	.;.;.	1.484603	0.19108	14.09	0.89943610925400397	0.19240	0.35978	0.25427	N	AEFDGBCI	0.008851	0.00045	N	.	.	.	.	.	.	0.999988333354985	0.51787	0.634777	0.41761	0	0.643519	0.57511	0	0.606735	0.37207	0	0.664235	0.64389	0	.	.	4.88	-1.29	0.08805	0.152000	0.16120	-0.014000	0.13018	-0.667000	0.04321	0.974000	0.34632	0.019000	0.20708	0.966000	0.53164	0.6058:0.0:0.3942:0.0	9.663	0.39134	293	0.88320	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	2933.68	67	chr1	156244810	.	G	A	2933.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.647;DP=892;ExcessHet=0.3300;FS=6.828;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=0.778;SOR=0.413	GT:AD:DP:GQ:PL	0/1:50,54:104:99:1375,0,1258	18	0	3	0
chr1	156244850	156244850	C	A	exonic	PAQR6	.	nonsynonymous SNV	PAQR6:NM_001272109:exon4:c.G4T:p.A2S	.	.	411	1053	53	5	0	63	0.0290456	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.019	B	0.054	B	0.034	N	1.000	D	0	N	1.83	T	-1.005	T	0.011	T	0.389	0.846	8.419	2.7	0.539	0.024	7.627	0.052	.	0.0077	0.00539137	0.0075	0.0027	0.0041	0.0013	0.0013	0.0081	0.0104	0.0155	0.007031	1087	154602	rs34514408	0.0075	0.0075	0.0072	0.0078	0.0231	0.0074	0.0074	0.0199	0.0187	0.0018	0.0053	0.0135	0.0006	0.0010	0.0231	0.0073	0.0096	0.0160	0.0060	0.0060	0.0060	0.0059	0.0170	0.0057	0.0055	0.0140	0.0129	0.0023	0.0230	0.0070	0.0115	0.0015	0.0006	0.0340	0.0076	0.0114	0.0170	0.167	0.23095	T	0.492	0.11479	T	0.019	0.17989	B	0.054	0.25828	B	0.033899	0.24840	N	0.457104	0.999514	0.47363	D	0.55	0.14455	N	1.83	0.24841	T	-0.68	0.21860	N	0.204	0.22614	-1.0048	0.28517	T	0.011	0.04227	T	10	0.003630519	0.00066	T	.	.	.	0.052	0.14661	.	.	0.0482279557977	0.04254	0.32600190541541246	0.32513	0.334413534742	0.35461	0.279182732105	0.07379	T	0.007823	0.07202	T	-0.421076	0.01683	T	-0.364649	0.37514	T	0.00801896257458957	0.00095	T	0.876612	0.58915	D	0.11884558	0.27995	0.081639044	0.18570	0.11884558	0.27994	0.081639044	0.18570	-3.89	0.22152	T	.	.	0.261	0.49548	B	.;.;.;.	.;.;.;.	0.764935	0.11347	7.965	0.85823210976325426	0.16135	0.26439	0.22993	N	AEFDGBHCI	0.240262	0.36208	N	-0.82651249844731	0.12635	0.6171331	-0.711710759728758	0.16670	0.8829094	0.999997013756232	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.606735	0.37207	0	0.664235	0.64389	0	.	.	4.64	2.7	0.31007	-0.096000	0.11027	-0.102000	0.11930	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.840000	0.39645	0.0:0.5923:0.3213:0.0864	7.627	0.27385	290	0.88477	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	2340.68	47	chr1	156244850	.	C	A	2340.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.571;DP=830;ExcessHet=0.3300;FS=5.220;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=-4.030e-01;SOR=0.431	GT:AD:DP:GQ:PL	0/1:37,48:85:99:1136,0,944	18	0	3	0
chr1	156245964	156245964	G	T	exonic	PAQR6	.	nonsynonymous SNV	PAQR6:NM_001272104:exon4:c.C203A:p.A68E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.0	B	0.003	B	.	.	1.000	N	0.9	L	1.51	T	-0.968	T	0.016	T	0.275	1.203	9.888	0.065	-0.162	0.054	4.221	0.031	0.0406794109737	.	.	0.0002	0	0	0	0	0	0	0.0004	1.94e-05	3	154602	rs754447314	2.155e-05	2.121e-05	1.417e-05	2.913e-05	0.0004	1.529e-05	1.327e-05	0.0003	0.0002	0	0	0	0	0	0	0	1.734e-05	0.0004	6.57e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.352	0.12226	T	1.0	0.01155	T	0.0	0.02946	B	0.003	0.08700	B	.	.	.	.	1	0.81001	D	0.755	0.19153	N	1.51	0.30937	T	-0.71	0.21215	N	0.346	0.38746	-0.9676	0.37693	T	0.016	0.06664	T	9	0.14614213	0.27711	T	0.040679	0.59509	D	0.031	0.07369	0.651	0.78858	0.0482279557977	0.04254	.	.	.	.	0.720181941986	0.70072	T	0.027924	0.20342	T	-0.439391	0.01304	T	-0.565802	0.15836	T	0.0300101767649337	0.01991	T	0.511749	0.16382	T	0.16643088	0.36977	0.116312936	0.28078	0.16643088	0.36977	0.116312936	0.28077	-7.379	0.64084	T	.	.	0.147	0.33596	B	.;.;.	.;.;.	0.643300	0.10115	6.863	0.92723819308481059	0.22221	0.29665	0.23882	N	ALL	0.170473	0.29738	N	-0.999588290316375	0.08613	0.4044861	-0.960816371117966	0.10673	0.5390493	0.999999997559898	0.74766	0.685219	0.55550	0	0.218748	0.04544	0	0.674405	0.61402	0	0.554799	0.18163	0	.	.	4.6	0.065	0.13668	-0.400000	0.07302	0.535000	0.19282	-0.915000	0.02235	0.002000	0.15269	0.029000	0.21193	0.017000	0.10941	0.5019:0.0:0.333:0.1651	4.221	0.10015	290	0.88477	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	613.98	31	chr1	156245964	.	G	T	613.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.565e+00;DP=862;ExcessHet=0.0000;FS=2.614;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=-1.176e+00;SOR=0.379	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1062	20	0	1	0
chr1	156266009	156266009	G	A	exonic	SMG5	.	nonsynonymous SNV	SMG5:NM_001323615:exon11:c.C1489T:p.R497W	.	.	424	1041	53	4	0	61	0.0284648	.	.	696155	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.476	P	0.153	B	0.291	N	0.692	N	0	N	1.4	T	-1.048	T	0.026	T	0.227	2.745	15.14	5.51	2.576	2.352	13.027	0.048	.	0.0071	0.00419329	0.0066	0.0016	0.0043	0.0001	0.0012	0.0082	0.0088	0.0102	0.0064035	990	154602	rs34377219	0.0073	0.0073	0.0071	0.0074	0.0224	0.0071	0.0071	0.0192	0.0180	0.0013	0.0055	0.0153	0.0001	0.0010	0.0224	0.0073	0.0092	0.0116	0.0055	0.0056	0.0058	0.0053	0.0118	0.0052	0.0051	0.0094	0.0085	0.0014	0.0220	0.0067	0.0144	0.0002	0.0006	0.0340	0.0076	0.0095	0.0118	0.006	0.61437	D	0.018	0.59732	D	0.476	0.36665	P	0.153	0.34292	B	0.290797	0.14772	N	0.672822	1	0.30179	N	0	0.06538	N	1.4	0.33630	T	-2.03	0.46673	N	0.316	0.35620	-1.0481	0.14932	T	0.026	0.11131	T	10	0.0035678446	0.00064	T	.	.	.	0.048	0.13305	.	.	0.176862962021	0.17281	0.1836607337102502	0.18285	0.413816520075	0.42075	0.314859569073	0.12643	T	0.057437	0.30565	T	-0.512611	0.00485	T	-0.499711	0.22378	T	0.0143363421666053	0.00286	T	0.858514	0.54939	D	0.07342955	0.16406	0.09569561	0.22706	0.07342955	0.16406	0.09569561	0.22705	-6.201	0.47931	T	.	.	0.091	0.13315	B	.	.	4.092404	0.60962	24.3	0.99873603549208556	0.95076	0.77767	0.38276	D	AEFGBCI	0.454368	0.50710	N	0.0271364480227597	0.43090	2.608939	0.194113991504032	0.49524	3.154545	0.999994183624492	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	2.468000	0.44759	6.509000	0.55803	0.676000	0.76740	0.969000	0.34210	0.999000	0.35428	0.985000	0.61073	0.0:0.0:0.8388:0.1612	13.027	0.58226	290	0.88477	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	7277.68	165	chr1	156266009	.	G	A	7277.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.41;DP=1184;ExcessHet=0.3300;FS=1.758;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=14.05;ReadPosRankSum=-1.690e-01;SOR=0.561	GT:AD:DP:GQ:PL	0/1:80,86:166:99:2441,0,1905	18	0	3	0
chr1	156285948	156285948	G	A	exonic	TMEM79	.	nonsynonymous SNV	TMEM79:NM_032323:exon2:c.G722A:p.R241H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.000	D	1.000	D	0.975	L	0.16	T	-0.621	T	0.242	T	0.958	5.158	32	5.65	2.637	9.160	18.290	0.603	0.0773350460187	.	0.000199681	2.571e-05	0	0	0	0	1.543e-05	0	0.0001	2.59e-05	4	154602	rs539131077	3.426e-06	4.104e-06	2.727e-06	4.133e-06	1.164e-05	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.701e-06	1.659e-05	1.164e-05	1.313e-05	1.312e-05	0	2.685e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.008	0.58626	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.056437	1	0.81001	D	1.975	0.53506	M	0.16	0.60610	T	-3.5	0.68178	D	0.889	0.88798	-0.6207	0.63959	T	0.242	0.61024	T	10	0.782586	0.77979	D	0.077335	0.72744	D	0.603	0.84345	0.648	0.78542	0.576907859032	0.57359	0.8258188470542918	0.82539	0.573721100839	0.53415	0.658024072647	0.61127	T	0.249694	0.61969	T	0.196957	0.73608	D	0.227286	0.84537	D	0.950932145118713	0.63447	D	0.910909	0.68443	D	0.37442175	0.58909	0.23905887	0.49245	0.37442175	0.58910	0.23905887	0.49244	-8.891	0.66992	D	.	.	0.489	0.64057	A	.;.	.;.	5.580567	0.92297	32	0.99956861529239205	0.99981	0.99529	0.97110	D	AEFBI	0.867437	0.78721	D	0.738392167019007	0.82147	7.691435	0.768331663551028	0.87521	9.250347	0.999999999999992	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.616094	0.41390	0	0.491896	0.07777	0	.	.	5.65	5.65	0.86881	9.081000	0.93444	11.825000	0.97352	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	18.290	0.90067	292	0.88363	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1153.98	36	chr1	156285948	.	G	A	1153.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.358e+00;DP=840;ExcessHet=0.0000;FS=5.434;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=-7.190e-01;SOR=0.330	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1124	20	0	1	0
chr1	156286326	156286326	G	A	exonic	TMEM79	.	nonsynonymous SNV	TMEM79:NM_032323:exon3:c.G824A:p.R275Q,	.	.	424	1095	2	1	0	4	0.00182315	.	.	3346718	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	1.0	D	0.963	D	0.000	D	1.000	D	0	N	0.81	T	-0.985	T	0.092	T	0.485	4.725	26.3	4.97	2.815	3.404	13.698	0.121	0.0073702272211	.	0.000199681	9.884e-05	0	0	0	0	8.991e-05	0	0.0004	8.41e-05	13	154602	rs563432840	9.029e-05	9.029e-05	7.487e-05	0.0001	0.0010	7.756e-05	7.299e-05	0.0005	0.0004	2.987e-05	4.472e-05	0	0	1.872e-05	0.0010	5.755e-05	0.0001	0.0006	5.909e-05	5.906e-05	5.139e-05	6.713e-05	0.0002	3.075e-05	2.208e-05	2.846e-05	1.858e-05	4.812e-05	0	0	0	0	0	0.0034	7.35e-05	0	0.0002	0.204	0.20078	T	0.068	0.44106	T	1.0	0.90584	D	0.963	0.70837	D	0.000023	0.55875	D	0.119737	0.881298	0.81001	D	0.805	0.20218	L	0.81	0.48460	T	-0.75	0.21003	N	0.348	0.38950	-0.9853	0.33760	T	0.092	0.35228	T	10	0.11419988	0.21478	T	0.00737	0.19550	T	0.121	0.33580	0.178	0.08503	0.681910643822	0.67920	0.5500008909859297	0.54926	0.514453030111	0.49391	0.419773578644	0.27804	T	0.010794	0.09711	T	-0.317163	0.07132	T	-0.343928	0.39899	T	0.136413872241974	0.15962	T	0.810819	0.46223	T	0.1695698	0.37482	0.11221706	0.27075	0.1695698	0.37481	0.11221706	0.27074	-4.527	0.31240	T	.	.	0.080	0.08705	B	.;.	.;.	4.084862	0.60795	24.3	0.99928683316686795	0.99222	0.93565	0.58564	D	AEFBI	0.111304	0.22041	N	0.43651303808014	0.63442	4.578004	0.510910853603495	0.68723	5.259655	0.999986309560583	0.51787	0.660377	0.49826	0	0.577304	0.33150	0	0.696353	0.63694	0	0.491896	0.07777	0	.	.	5.93	4.97	0.65419	2.595000	0.45861	4.490000	0.43568	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1544:0.8456:0.0	13.698	0.62073	292	0.88363	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	861.98	88	chr1	156286326	.	G	A	861.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=788;ExcessHet=0.0000;FS=1.756;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.80;ReadPosRankSum=-2.059e+00;SOR=0.937	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1280	20	0	1	0
chr1	156369356	156369356	A	G	exonic	RHBG	.	nonsynonymous SNV	RHBG:NM_020407:exon1:c.A107G:p.Y36C,	.	.	426	1086	10	0	0	10	0.00458295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	D	3.425	M	1.81	T	0.063	D	0.427	T	0.93	4.437	23.6	5.28	2.214	3.480	14.188	0.610	0.0754018637921	0.0013	.	0.0010	0.0002	0.0012	0	0	0.0012	0	0.0018	0.0008861	137	154602	rs202003473	0.0008	0.0008	0.0008	0.0008	0.0021	0.0008	0.0008	0.0012	0.0010	8.961e-05	0.0009	0	2.519e-05	5.618e-05	0.0021	0.0009	0.0009	0.0013	0.0006	0.0006	0.0006	0.0005	0.0011	0.0005	0.0004	0.0009	0.0008	7.235e-05	0	0.0005	0.0003	0	0	0	0.0011	0.0005	0.0004	0.021	0.49117	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.25	0.59449	T	-4.43	0.77554	D	0.95	0.95841	0.063	0.83480	D	0.427	0.77035	T	9	0.67678535	0.71039	D	0.075402	0.72279	D	0.610	0.84719	.	.	0.846942012926	0.84547	0.8622034349201431	0.86184	.	.	0.636983275414	0.58136	T	.	.	.	0.0210791	0.54526	T	0.222124	0.84282	D	0.148079216371863	0.16950	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.567	0.67488	P	.	.	5.185610	0.86954	29.1	0.99820087775251254	0.90326	0.95275	0.64091	D	AEFDBHCIJ	0.841791	0.75895	D	0.775014478052731	0.84522	8.311002	0.689807313213981	0.81603	7.565845	0.999999999999913	0.74766	0.652421	0.48094	0	0.563428	0.19063	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	5.28	5.28	0.74118	3.615000	0.53908	8.730000	0.78182	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	14.188	0.65154	684	0.59539	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2548.98	38	chr1	156369356	.	A	G	2548.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=899;ExcessHet=0.0000;FS=2.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.64;ReadPosRankSum=1.11;SOR=0.695	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1212	20	0	1	0
chr1	156700981	156700981	C	T	exonic	CRABP2	.	nonsynonymous SNV	CRABP2:NM_001878:exon2:c.G142A:p.G48R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.852	P	0.731	P	0.000	D	1.000	D	3.015	M	2.69	T	-1.121	T	0.049	T	0.492	3.905	19.86	1.88	0.639	4.439	8.167	0.227	0.0176580687649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.007	0.69154	D	0.852	0.47012	P	0.731	0.55321	P	0.000007	0.62929	D	0.111454	0.999698	0.48338	D	4.015	0.96844	H	2.69	0.12268	T	-6.94	0.94674	D	0.636	0.64903	-1.1214	0.02245	T	0.049	0.20947	T	10	0.808053	0.80121	D	0.017658	0.39446	T	0.227	0.52620	0.741	0.87317	0.464270400615	0.46053	0.7733356995642817	0.77283	0.296176561892	0.32004	0.637533068657	0.58213	T	0.453112	0.79318	T	-0.0625095	0.42515	T	-0.327567	0.41738	T	0.998577356338501	0.94534	D	0.938406	0.76842	D	0.9065267	0.91973	0.7521044	0.85347	0.9065267	0.91974	0.7521044	0.85348	-13.27	0.90444	D	.	.	0.501	0.64920	A	.;.;.;.	.;.;.;.	4.211654	0.63633	24.6	0.99775008722988667	0.86260	0.91288	0.53232	D	AEFDBI	0.426685	0.49094	N	0.304997913031668	0.56406	3.805127	0.161995541575296	0.47779	3.003209	0.998153235063764	0.36500	0.67177	0.52595	0	0.610034	0.51514	0	0.702456	0.68683	0	0.586402	0.36253	0	.	.	4.86	1.88	0.24630	4.546000	0.60415	5.969000	0.51963	0.599000	0.40250	0.974000	0.34632	0.999000	0.35428	0.996000	0.76049	0.0:0.7158:0.0:0.2842	8.167	0.30393	502	0.75873	Lipocalin/cytosolic fatty-acid binding domain;Lipocalin/cytosolic fatty-acid binding domain;Lipocalin/cytosolic fatty-acid binding domain;Lipocalin/cytosolic fatty-acid binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	859.98	40	chr1	156700981	.	C	T	859.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.45;ReadPosRankSum=0.237;SOR=0.760	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1284	20	0	1	0
chr1	156743839	156743839	C	T	exonic	HDGF	.	nonsynonymous SNV	HDGF:NM_001126050:exon5:c.G577A:p.G193R	.	.	399	1109	13	1	0	15	0.00671742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.622	P	0.157	B	0.184	U	0.985	N	1.04	L	1.92	T	-1.035	T	0.018	T	0.098	1.034	9.222	3.56	1.098	2.342	8.405	0.024	.	0.0004	0.00938498	0.0060	0.0017	0.0005	0.0012	0	3.014e-05	0.0034	0.0423	0.0051616	798	154602	rs73002716	0.0027	0.0027	0.0014	0.0039	0.0418	0.0026	0.0026	0.0407	0.0402	0.0015	0.0001	0	0.0011	0	0.0028	2.069e-05	0.0025	0.0418	0.0018	0.0018	0.0010	0.0027	0.0433	0.0016	0.0016	0.0385	0.0367	0.0014	0	0.0001	0	0.0006	0	0	2.94e-05	0.0005	0.0433	0.484	0.20154	T	0.152	0.40110	T	0.0	0.02946	B	0.001	0.04355	B	0.183759	0.17032	U	0.488989	0.994512	0.24711	N	0.755	0.19153	N	1.92	0.32722	T	-0.15	0.15578	N	0.143	0.15609	-1.0353	0.18762	T	0.018	0.07612	T	10	0.0023260415	0.00034	T	.	.	.	0.024	0.04979	0.186	0.09517	0.376570364461	0.37271	0.15704871913818222	0.15625	1.07742525153	0.77023	0.39216697216	0.23974	T	0.080118	0.36288	T	-0.599948	0.00146	T	-0.604573	0.12429	T	0.0205574199020793	0.00755	T	0.727127	0.34152	T	0.020746972	0.00644	0.03842232	0.03707	0.020746972	0.00644	0.03842232	0.03706	-4.71	0.33525	T	.	.	0.112	0.29670	B	.;.;.;.	.;.;.;.	3.304976	0.45390	22.1	0.85570904600086095	0.15976	0.87681	0.47302	D	AEFDBCI	0.333795	0.43277	N	-0.355671148130692	0.27065	1.481947	-0.231264511611906	0.30423	1.712775	0.999998540497223	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.48	3.56	0.39892	2.510000	0.45129	4.755000	0.44682	0.596000	0.33519	0.902000	0.31475	1.000000	0.68203	0.991000	0.66497	0.0:0.8919:0.0:0.1081	8.405	0.31773	511	0.75131	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	647.98	40	chr1	156743839	.	C	T	647.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.468;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=1.62;SOR=0.793	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1351	20	0	1	0
chr1	156791748	156791748	C	A	exonic	PRCC	.	nonsynonymous SNV	PRCC:NM_005973:exon4:c.C1135A:p.P379T,	Renal cell carcinoma, papillary	.	8	1510	4	0	0	4	0.00132275	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.004	B	0.003	B	0.273	N	0.558	N	0.345	N	0.92	T	-0.999	T	0.019	T	0.129	0.564	7.049	-1.04	-0.094	-0.090	6.342	0.051	.	0.0074	0.00419329	0.0088	0.0022	0.0022	0	0.0241	0.0099	0.0066	0.0120	0.0082599	1277	154602	rs17850664	0.0097	0.0097	0.0096	0.0098	0.0126	0.0096	0.0095	0.0120	0.0117	0.0012	0.0023	0.0082	2.52e-05	0.0210	0.0017	0.0101	0.0066	0.0126	0.0078	0.0078	0.0071	0.0084	0.0101	0.0074	0.0072	0.0094	0.0092	0.0015	0.0208	0.0037	0.0081	0	0.0255	0	0.0101	0.0047	0.0100	0.406	0.10278	T	0.838	0.03631	T	0.004	0.12183	B	0.003	0.08700	B	0.273053	0.15090	N	0.674960	0.999441	0.31282	N	0.695	0.17993	N	0.92	0.44461	T	-0.27	0.11366	N	0.229	0.25745	-0.9990	0.30199	T	0.019	0.07846	T	10	0.0023302138	0.00034	T	.	.	.	0.051	0.14325	.	.	0.0675242888579	0.06100	0.36327764446345334	0.36241	0.250569275448	0.27630	0.407111942768	0.26056	T	0.084966	0.37395	T	-0.619118	0.00111	T	-0.643172	0.09440	T	0.000319546863751928	0.00003	T	0.491551	0.15120	T	0.028137766	0.02107	0.031535756	0.01756	0.028137766	0.02107	0.031535756	0.01755	-5.432	0.41226	T	.	.	0.061	0.01026	B	.	.	0.660316	0.10287	7.021	0.58554512266040437	0.06020	0.18022	0.20087	N	AEFBI	0.133054	0.25258	N	-0.940513546303008	0.09907	0.4710127	-0.898883179262788	0.12120	0.6216219	0.112781638376097	0.16693	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	-1.04	0.09555	-0.075000	0.11392	-2.445000	0.03745	-0.190000	0.09434	0.001000	0.13787	0.000000	0.08366	0.893000	0.43066	0.1139:0.5723:0.0:0.3138	6.342	0.20533	671	0.60868	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1374.98	34	chr1	156791748	.	C	A	1374.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.029;DP=834;ExcessHet=0.0000;FS=2.305;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=-7.200e-01;SOR=0.512	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1380	20	0	1	0
chr1	156815838	156815838	G	C	exonic	NTRK1	.	nonsynonymous SNV	NTRK1:NM_001007792:exon1:c.G9C:p.E3D,	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	.	.	.	.	.	.	.	.	0.0003	0.01	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.004	B	0.004	B	.	.	1.000	N	0	N	-0.97	T	-0.994	T	0.083	T	0.07	2.192	13.29	2.36	0.744	0.242	6.516	0.177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	0.0001	1.362e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	.	.	.	-0.97	0.75670	T	-0.05	0.07736	N	0.05	0.02179	-0.9939	0.31591	T	0.083	0.32499	T	9	0.082740545	0.13688	T	0.007492	0.19872	T	0.177	0.44549	0.115	0.02372	0.51372946856	0.51013	.	.	.	.	.	.	.	.	.	.	-0.1645	0.26071	T	-0.474069	0.25079	T	0.22831466794014	0.21871	T	0.333767	0.07077	T	.	.	.	.	.	.	.	.	-3.709	0.19451	T	.	.	.	.	.	.	.	1.156672	0.15452	11.86	0.96680647164573041	0.30697	0.17383	0.19813	N	AEFGBCI	0.071145	0.14151	N	-0.913840955761567	0.10517	0.5029817	-0.907916361291049	0.11907	0.6094711	0.999995659671766	0.74766	0.541725	0.22260	1	0.459889	0.06624	1	0.616487	0.41570	0	0.635259	0.50027	0	.	.	4.23	2.36	0.28258	0.251000	0.18025	0.143000	0.15197	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.106000	0.18562	0.2157:0.0:0.7843:0.0	6.516	0.21443	721	0.55360	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	470.92	92	chr1	156815838	.	G	C	470.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-4.519e+00;DP=2320;ExcessHet=0.6776;FS=154.586;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.85;ReadPosRankSum=1.30;SOR=10.150	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:122,36:161:99:.:.:204,0,3726	17	0	4	0
chr1	156815839	156815839	G	C	splicing	NTRK1	NM_001007792:exon1:c.9+1G>C	.	.	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	.	.	.	.	.	.	.	.	0.0001	0.002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	N	.	.	.	.	.	.	.	.	.	0.675	7.612	1.31	0.316	-0.180	4.184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.214e-06	0.0002	1.09e-05	5.503e-06	2.988e-05	4.38e-06	3.46e-06	5.31e-06	3.88e-06	2.988e-05	0	0	0	0	0	9.899e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.996889	0.22868	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.368844	0.03652	T	-0.767596	0.02848	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.462841	0.18854	13.96	0.7159568618309291	0.09682	0.05745	0.11673	N	AEFGBCI	.	.	.	-0.545425066812517	0.20627	1.088785	-0.702648580947352	0.16894	0.8958837	0.999991161713536	0.74766	0.125411	0.03135	0	0.10752	0.03338	0	0.127595	0.03524	0	0.057669	0.00882	0	0.11426	0.24032	4.23	1.31	0.20837	-0.173000	0.09844	0.057000	0.14080	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.102000	0.18378	0.2167:0.2117:0.5716:0.0	4.184	0.09851	721	0.55360	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1192.72	73	chr1	156815839	.	G	C	1192.72	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-4.688e+00;DP=2417;ExcessHet=3.5521;FS=187.374;InbreedingCoeff=-0.2541;MLEAC=8;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=1.11;ReadPosRankSum=1.23;SOR=11.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:122,36:161:99:.:.:204,0,3726	12	0	8	1
chr1	156815840	156815840	T	C	splicing	NTRK1	NM_001007792:exon1:c.9+2T>C	.	.	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	.	.	.	.	.	.	.	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998	N	.	.	.	.	.	.	.	.	.	-0.537	1.561	-8.46	-2.163	-3.633	4.498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998468	0.22137	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.503101	0.00549	T	-0.960446	0.00231	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.307850	0.02582	0.317	0.59977697429656796	0.06352	0.01792	0.05602	N	AEFGBCI	.	.	.	-1.08617453158003	0.06898	0.3188359	-1.35950259107624	0.03695	0.1728951	0.999999997695394	0.74766	0.125411	0.03135	0	0.10752	0.03338	0	0.127595	0.03524	0	0.057669	0.00882	0	0.112941	0.23894	4.23	-8.46	0.00822	-3.648000	0.00453	-5.931000	0.01549	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.092000	0.17891	0.0947:0.5942:0.1907:0.1204	4.498	0.11261	721	0.55360	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	127.98	74	chr1	156815840	.	T	C	127.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.697e+00;DP=1928;ExcessHet=0.0000;FS=80.566;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=0.880;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:83,0:83:99:.:.:0,120,1800	20	0	1	0
chr1	156842411	156842411	C	T	exonic	INSRR	.	nonsynonymous SNV	INSRR:NM_014215:exon18:c.G3224A:p.R1075Q,	.	.	155	1357	9	1	0	11	0.0040367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.992	D	0.298	B	0.001	D	1.000	D	.	.	-2.52	D	-0.073	T	0.447	T	0.498	4.377	23.1	3.65	1.121	7.651	12.600	0.625	0.530135003983	.	.	8.238e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs779010804	3.968e-05	3.967e-05	2.45e-05	5.501e-05	0.0004	3.113e-05	2.847e-05	0.0003	0.0003	2.987e-05	6.708e-05	0	0	0	0.0002	1.259e-05	4.968e-05	0.0004	2.63e-05	2.627e-05	0	5.384e-05	0.0006	8.15e-06	5.14e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.0	0.91255	D	0.0	0.92824	D	0.992	0.64738	D	0.298	0.40966	B	0.000694	0.42383	D	0.000000	1	0.81001	D	1.865	0.49290	L	-2.52	0.89363	D	-3.41	0.67129	D	0.731	0.73195	-0.0735	0.80698	T	0.447	0.78270	T	9	0.8461727	0.83783	D	0.530135	0.95576	D	0.625	0.85511	0.7	0.83684	0.919419809122	0.91860	0.5411205017019208	0.54037	0.33824194443	0.35799	0.676180481911	0.63722	T	0.683576	0.90733	D	-0.055374	0.43628	T	-0.0251686	0.68689	D	0.429471105337143	0.30041	T	0.994238	0.98092	D	0.7951944	0.83600	0.827919	0.90049	0.7951944	0.83602	0.827919	0.90050	-9.951	0.73618	D	.	.	0.883	0.81647	P	.	.	5.269679	0.88479	29.6	0.99952082681827326	0.99951	0.98770	0.86628	D	AEFDGBI	0.930834	0.91874	D	0.338215565054526	0.58119	3.982545	0.344001442538259	0.58147	3.983635	0.993390734881326	0.33198	0.59774	0.34471	0	0.59043	0.45803	0	0.563428	0.18855	0	0.63947	0.58350	0	.	.	4.58	3.65	0.40985	7.905000	0.86479	7.638000	0.63056	0.599000	0.40250	0.987000	0.36337	1.000000	0.68203	0.997000	0.79791	0.1673:0.8327:0.0:0.0	12.600	0.55846	706	0.57215	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1419.98	33	chr1	156842411	.	C	T	1419.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.18;DP=843;ExcessHet=0.0000;FS=3.565;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=-6.500e-02;SOR=1.055	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr1	156843134	156843134	C	T	exonic	INSRR	.	nonsynonymous SNV	INSRR:NM_014215:exon17:c.G2996A:p.R999Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.0	B	0.001	B	0.526	N	0.949	N	.	.	-1.65	D	-0.889	T	0.177	T	0.067	2.021	12.71	-4.16	-0.655	-0.082	9.562	0.178	0.0134949471979	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1188702401	1.437e-05	1.436e-05	1.089e-05	1.788e-05	2.987e-05	9.23e-06	7.84e-06	9.31e-06	7.61e-06	2.987e-05	2.236e-05	0	0	0	0	1.529e-05	0	2.319e-05	6.573e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.137	0.25979	T	0.147	0.32783	T	0.0	0.02946	B	0.001	0.04355	B	0.525898	0.11690	N	0.703332	0.949222	0.37643	D	1.505	0.38159	L	-1.65	0.82625	D	-0.85	0.23156	N	0.157	0.16308	-0.8894	0.48986	T	0.177	0.52162	T	9	0.07466516	0.11441	T	0.013495	0.32933	T	0.178	0.44724	0.342	0.33464	0.578844998551	0.57554	0.23112019405701092	0.23027	0.0515081126592	0.05672	0.271671295166	0.06360	T	0.356411	0.72327	T	-0.250923	0.13984	T	-0.515344	0.20768	T	0.072318431070173	0.08973	T	0.637136	0.25071	T	0.07755253	0.17610	0.107351385	0.25841	0.07755253	0.17610	0.107351385	0.25841	-4.044	0.24460	T	.	.	0.061	0.01109	B	.	.	1.112969	0.14983	11.49	0.9463534435787988	0.25227	0.02714	0.07370	N	AEFGBI	0.077869	0.15698	N	-1.14674851994006	0.05833	0.2669695	-1.17378929585341	0.06350	0.3054157	0.282415803894183	0.19001	0.59774	0.34471	0	0.59043	0.45803	0	0.563428	0.18855	0	0.63947	0.58350	0	.	.	4.92	-4.16	0.03606	-0.038000	0.12096	-1.072000	0.06417	-0.982000	0.01892	0.000000	0.06391	0.000000	0.08366	0.985000	0.61073	0.1163:0.1425:0.0:0.7412	9.562	0.38543	693	0.58582	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase, ATP binding site|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1600.98	35	chr1	156843134	.	C	T	1600.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.581e+00;DP=842;ExcessHet=0.0000;FS=0.721;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.29;ReadPosRankSum=1.08;SOR=0.575	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,112,1551	20	0	1	0
chr1	156851363	156851363	G	T	exonic	INSRR	.	nonsynonymous SNV	INSRR:NM_014215:exon5:c.C1156A:p.H386N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.988	D	0.907	P	0.000	D	1.000	D	.	.	-1.16	T	0.176	D	0.562	D	0.548	4.550	24.6	5.08	2.642	7.670	17.190	0.632	0.344146353961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.326e-05	2.326e-05	2.859e-05	1.788e-05	2.987e-05	1.674e-05	1.477e-05	2.082e-05	1.782e-05	2.987e-05	0	0	0	0	0	2.878e-05	1.656e-05	0	6.572e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.014	0.53172	D	0.016	0.60972	D	0.988	0.62325	D	0.907	0.64423	P	0.000201	0.47681	D	0.000000	1	0.81001	D	2.625	0.76847	M	-1.16	0.78082	T	-2.59	0.55821	D	0.787	0.78356	0.176	0.85510	D	0.562	0.84082	D	9	0.88778234	0.88111	D	0.344146	0.92095	D	0.632	0.85872	0.677	0.81496	0.923485407607	0.92270	0.7745051633529748	0.77400	1.24773453601	0.81730	0.794663488865	0.81151	T	0.630828	0.88556	D	0.084	0.62528	D	-0.116829	0.62062	T	0.989181101322174	0.79436	D	0.808019	0.45805	T	0.3914919	0.60138	0.2797459	0.53945	0.3914919	0.60138	0.2797459	0.53944	-13.387	0.90895	D	.	.	0.792	0.76924	P	.	.	4.159447	0.62453	24.5	0.99309337375613682	0.58943	0.98869	0.87939	D	AEFDBI	0.940415	0.94232	D	0.704694061222128	0.79941	7.185262	0.708818163317979	0.83049	7.92066	0.99999999531591	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.631631	0.49550	0	.	.	5.08	5.08	0.68373	6.746000	0.74663	11.708000	0.94607	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.190	0.86756	640	0.64132	Receptor L-domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	664.98	33	chr1	156851363	.	G	T	664.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.624;DP=776;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.93;ReadPosRankSum=-8.570e-01;SOR=0.765	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1163	20	0	1	0
chr1	156873743	156873743	G	A	exonic	NTRK1	.	nonsynonymous SNV	NTRK1:NM_001012331:exon8:c.G961A:p.V321M	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	.	1	1520	1	0	0	1	0.000328839	.	.	1914008	Hereditary_insensitivity_to_pain_with_anhidrosis|not_provided	MONDO:MONDO:0009746,MedGen:C0020074,OMIM:256800,Orphanet:642|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.58	P	0.091	B	0.007	N	1.000	N	1.185	L	1.51	T	-1.028	T	0.015	T	0.171	2.036	12.77	0.882	0.893	-0.104	1.011	0.039	0.0067491678697	7.7e-05	.	3.665e-05	0.0001	0	0	0	3.303e-05	0	6.616e-05	2.59e-05	4	154602	rs369367198	2.259e-05	2.257e-05	1.634e-05	2.89e-05	0.0003	1.611e-05	1.417e-05	0.0002	0.0001	0.0003	0	0	0	1.878e-05	0.0002	5.397e-06	9.943e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.26629	T	0.119	0.36101	T	0.58	0.38813	P	0.042	0.24114	B	0.006721	0.31850	N	0.218051	1	0.08975	N	0.46	0.12951	N	1.51	0.30937	T	-0.43	0.14390	N	0.246	0.31702	-1.0276	0.21233	T	0.015	0.06090	T	10	0.11572459	0.21810	T	0.006749	0.17840	T	0.039	0.10176	.	.	0.716905102443	0.71441	0.5993136846928314	0.59862	0.556277365076	0.52292	0.521540045738	0.41843	T	0.33471	0.70441	T	-0.381999	0.03026	T	-0.603101	0.12552	T	0.113227254659326	0.13756	T	0.405859	0.10416	T	0.061811566	0.12840	0.07825554	0.17510	0.061811566	0.12840	0.07825554	0.17510	-6.069	0.46853	T	0.10189253229811472	0.07683	0.088	0.11941	B	.;.;.;.	.;.;.;.	2.556314	0.33095	19.24	0.98573772959142036	0.43141	0.09599	0.15319	N	AEFDBI	0.030896	0.03197	N	-0.372866044589467	0.26440	1.442998	-0.317096889264733	0.27546	1.529286	0.928485324306345	0.26930	0.517182	0.21443	0	0.563428	0.19063	0	0.478664	0.07449	1	0.631631	0.49550	0	.	.	6.17	0.882	0.18306	-0.201000	0.09466	1.764000	0.28577	0.676000	0.76740	0.000000	0.06391	0.424000	0.24822	0.873000	0.41610	0.245:0.3081:0.2894:0.1575	1.011	0.01402	579	0.69780	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1397.98	37	chr1	156873743	.	G	A	1397.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=848;ExcessHet=0.0000;FS=2.241;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=0.272;SOR=0.930	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,111,1665	20	0	1	0
chr1	156879124	156879124	C	T	exonic	NTRK1	.	nonsynonymous SNV	NTRK1:NM_001012331:exon14:c.C1790T:p.S597F	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.889	P	0.595	P	0.030	N	1.000	D	2.305	M	-1.72	D	0.194	D	0.528	D	0.7	3.171	16.61	4.37	2.432	5.854	15.985	0.660	0.138787162896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.68238	D	0.012	0.65728	D	0.474	0.39849	P	0.168	0.35187	B	0.029785	0.25403	N	0.285942	0.999926	0.54805	D	2.235	0.63160	M	-1.72	0.83241	D	-3.77	0.71397	D	0.494	0.53269	0.194	0.85798	D	0.528	0.82438	D	10	0.69264996	0.71950	D	0.138787	0.82127	D	0.660	0.87283	0.507	0.60232	0.928708275997	0.92798	0.5078569948578682	0.50707	0.409882801041	0.41793	0.778451681137	0.78694	T	0.833486	0.96047	D	0.193112	0.73251	D	0.039616	0.72902	D	0.976203441619873	0.71274	D	0.956404	0.83469	D	0.69206756	0.77623	0.6891424	0.81712	0.69206756	0.77625	0.6891424	0.81713	-10.685	0.79680	D	0.29649916867644444	0.39353	0.204	0.51583	B	.;.;.;.	.;.;.;.	4.367917	0.67223	25.1	0.9953438547818988	0.70087	0.97773	0.77029	D	AEFGBI	0.822772	0.74302	D	0.400031434635373	0.61425	4.343354	0.435520173042434	0.63791	4.620206	0.999995082014523	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.59043	0.30614	0	0.63947	0.58350	0	.	.	4.37	4.37	0.51830	6.096000	0.71091	7.490000	0.59357	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.956000	0.50813	0.0:1.0:0.0:0.0	15.985	0.79939	537	0.73184	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	980.98	76	chr1	156879124	.	C	T	980.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.050e-01;DP=890;ExcessHet=0.0000;FS=1.059;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=1.53;SOR=0.459	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1358	20	0	1	0
chr1	156881533	156881533	G	A	exonic	NTRK1	.	nonsynonymous SNV	NTRK1:NM_001012331:exon16:c.G2264A:p.R755Q	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	YES	0	1513	8	1	0	10	0.00329381	.	.	1540658	Hereditary_insensitivity_to_pain_with_anhidrosis|not_provided	MONDO:MONDO:0009746,MedGen:C0020074,OMIM:256800,Orphanet:642|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.38	T	0.013	B	0.004	B	0.012	N	0.929	D	-0.035	N	-1.59	D	-0.952	T	0.135	T	0.372	2.609	14.68	4.11	1.312	0.352	6.933	0.210	0.00686803336614	.	0.000199681	0.0003	0.0002	0	0	0	3.608e-05	0	0.0013	0.0001488	23	154602	rs201891311	0.0001	0.0002	8.079e-05	0.0002	0.0019	0.0001	0.0001	0.0017	0.0016	0.0001	0	0	0	0	0.0009	2.709e-05	0.0002	0.0019	0.0001	0.0001	3.853e-05	0.0002	0.0027	8.16e-05	6.717e-05	0.0016	0.0013	0.0001	0	0	0	0	0	0	1.47e-05	0	0.0027	0.228	0.18434	T	0.161	0.34359	T	0.0	0.07471	B	0.001	0.04355	B	0.012257	0.29238	N	0.238545	0.683508	0.36925	D	0.905	0.23240	L	-1.59	0.82076	D	-0.4	0.13805	N	0.202	0.22357	-0.9518	0.40660	T	0.135	0.44971	T	10	0.023714691	0.00629	T	0.006868	0.18177	T	0.210	0.50028	.	.	0.849743943647	0.84829	0.19415647910783967	0.19333	0.28510221178	0.30919	0.453783094883	0.32461	T	0.490972	0.81554	T	-0.31998	0.06898	T	-0.262484	0.48575	T	0.0603199895046071	0.07220	T	0.892211	0.62852	D	0.15947026	0.35821	0.076693565	0.17011	0.15947026	0.35821	0.076693565	0.17011	-6.509	0.51584	T	0.03449484710576937	0.00169	0.061	0.01179	B	.;.;.;.	.;.;.;.	2.901991	0.38468	20.7	0.9975512330473294	0.84615	0.69825	0.34342	D	AEFBI	0.221864	0.34643	N	-0.40528812998552	0.25284	1.371341	-0.195597362527002	0.31697	1.79633	0.767584462925001	0.23615	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	5.04	4.11	0.47350	0.095000	0.14966	4.774000	0.44793	0.676000	0.76740	0.934000	0.32416	1.000000	0.68203	0.998000	0.85391	0.2606:0.0:0.7394:0.0	6.933	0.23628	530	0.73653	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1041.98	33	chr1	156881533	.	G	A	1041.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.965e+00;DP=796;ExcessHet=0.0000;FS=4.638;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.39;ReadPosRankSum=-5.600e-02;SOR=0.694	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1161	20	0	1	0
chr1	156881590	156881590	G	A	exonic	NTRK1	.	nonsynonymous SNV	NTRK1:NM_001012331:exon16:c.G2321A:p.R774Q	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	YES	0	1487	35	0	0	35	0.0116318	.	.	237215	NTRK1-related_disorder|Hereditary_insensitivity_to_pain_with_anhidrosis|not_specified|not_provided	.|MONDO:MONDO:0009746,MedGen:C0020074,OMIM:256800,Orphanet:642|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.62	T	0.873	P	0.239	B	0.001	D	1.000	N	0.56	N	-1.6	D	-0.934	T	0.138	T	0.488	0.659	7.532	4.1	1.341	0.822	8.581	0.339	.	0.0036	0.00379393	0.0064	0.0015	0.0035	0	0.0019	0.0072	0.0050	0.0126	0.0048512	750	154602	rs35669708	0.0058	0.0058	0.0055	0.0061	0.0117	0.0057	0.0057	0.0111	0.0109	0.0007	0.0027	0.0006	7.571e-05	0.0017	0.0070	0.0062	0.0049	0.0117	0.0043	0.0043	0.0043	0.0044	0.0114	0.0041	0.0039	0.0090	0.0081	0.0010	0	0.0075	0.0009	0	0.0013	0.0136	0.0061	0.0057	0.0114	0.231	0.18308	T	0.445	0.13140	T	0.005	0.47975	B	0.009	0.38566	B	0.000949	0.40932	D	0.109267	1	0.08975	N	0.595	0.15482	N	-1.6	0.82165	D	-1.25	0.31576	N	0.282	0.35408	-0.9340	0.43545	T	0.138	0.45470	T	10	0.012337536	0.00265	T	.	.	.	0.339	0.66106	.	.	0.793816764983	0.79190	0.6476328844921709	0.64698	0.295731434207	0.31975	0.395707249641	0.24471	T	0.56893	0.85694	D	-0.335654	0.05694	T	-0.246959	0.50116	T	0.00731582278162374	0.00084	T	0.819918	0.48580	T	0.24014701	0.46915	0.10897891	0.26259	0.26156637	0.49215	0.09393142	0.22210	-6.265	0.48904	T	0.13459309679898868	0.14554	0.065	0.02313	B	.;.;.;.	.;.;.;.	2.380185	0.30549	18.47	0.94565689527094787	0.25095	0.20513	0.21069	N	AEFDBI	0.241183	0.36284	N	-0.746801634666891	0.14720	0.7356819	-0.73046276975402	0.16204	0.8560722	0.98761279161428	0.31305	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	5.01	4.1	0.47196	0.472000	0.21827	1.856000	0.29290	0.676000	0.76740	0.000000	0.06391	0.014000	0.20376	0.137000	0.19835	0.1746:0.0:0.8254:0.0	8.581	0.32790	527	0.73864	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1473.98	33	chr1	156881590	.	G	A	1473.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=823;ExcessHet=0.0000;FS=3.160;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=-9.410e-01;SOR=0.465	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1161	20	0	1	0
chr1	156913875	156913875	G	A	exonic	PEAR1	.	nonsynonymous SNV	PEAR1:NM_001080471:exon22:c.G2737A:p.G913R	.	.	406	1114	2	0	0	2	0.000896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.022	B	0.003	B	0.003	N	0.889	N	1.61	L	-2.38	D	-0.725	T	0.358	T	0.315	2.760	15.19	3.71	2.640	-0.090	7.346	0.214	0.0347419567581	0.0015	0.00199681	0.0005	0.0038	0.0005	0.0001	0	0.0001	0	0.0002	0.0004851	75	154602	rs111590338	0.0002	0.0002	0.0002	0.0002	0.0078	0.0002	0.0002	0.0060	0.0054	0.0043	0.0005	0	0.0002	0	0.0078	5.217e-05	0.0007	8.124e-05	0.0013	0.0013	0.0013	0.0013	0.0042	0.0011	0.0011	0.0037	0.0035	0.0042	0	0.0004	0.0006	0.0002	0	0.0204	2.94e-05	0.0019	0	0.374	0.11406	T	0.145	0.33000	T	0.022	0.18677	B	0.003	0.08700	B	0.002931	0.35704	N	0.127058	0.888815	0.27919	N	2.4	0.69460	M	-2.38	0.88298	D	-0.53	0.16393	N	0.296	0.33469	-0.7250	0.59215	T	0.358	0.71998	T	10	0.008041143	0.00183	T	0.034742	0.55878	D	0.214	0.50650	0.244	0.17830	0.618588964477	0.61550	0.5775723059869875	0.57686	0.199639565115	0.22366	0.408351182938	0.26229	T	0.00672	0.06148	T	-0.316377	0.07198	T	-0.22775	0.51989	T	0.0269972910646285	0.01543	T	0.679332	0.28809	T	0.10640449	0.25160	0.07073448	0.15064	0.10640449	0.25160	0.07073448	0.15064	-3.09	0.11182	T	.	.	0.099	0.19518	B	.;.	.;.	1.981356	0.25168	16.67	0.99609460564693109	0.74694	0.54522	0.29636	D	AEFDBCI	0.085431	0.17318	N	-0.186289113614509	0.33703	1.915242	-0.0479136303626954	0.37581	2.202333	0.999919779968781	0.45857	0.67177	0.52595	0	0.59043	0.45803	0	0.769059	0.98459	0	0.711	0.71501	0	.	.	5.6	3.71	0.41733	-0.064000	0.11593	1.106000	0.24114	0.676000	0.76740	0.755000	0.29187	1.000000	0.68203	0.732000	0.35165	0.2285:0.0:0.7715:0.0	7.346	0.25837	398	0.82839	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	905.98	37	chr1	156913875	.	G	A	905.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.92;DP=824;ExcessHet=0.0000;FS=0.889;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=0.061;SOR=0.883	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr1	156930528	156930528	G	C	splicing	LRRC71	NM_144702:exon12:c.1241-1G>C	.	.	.	.	423	1087	11	1	0	13	0.00594422	1.0000	0.948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.945	15.82	5.29	2.741	2.462	14.303	.	.	0.0011	0.00379393	0.0070	0.0008	0.0040	0	0	0.0032	0.0038	0.0163	0.0020957	324	154602	rs147334331	0.0028	0.0028	0.0025	0.0032	0.0153	0.0028	0.0027	0.0146	0.0143	0.0003	0.0010	0.0028	0	0.0006	0.0039	0.0023	0.0023	0.0153	0.0018	0.0018	0.0016	0.0019	0.0151	0.0016	0.0015	0.0123	0.0113	0.0003	0	0.0008	0.0043	0	0.0006	0	0.0023	0	0.0151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.101625	0.36157	T	0.0935698	0.76483	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.960962	0.94191	33	0.9949467236067302	0.67687	0.84566	0.43649	D	AEFBCI	.	.	.	1.00135432233439	0.95784	13.96329	0.831559637646466	0.91895	11.12489	0.999999971560932	0.74766	0.080785	0.02172	0	0.109994	0.03358	0	0.059349	0.00372	0	0.10565	0.03146	0	0.973784	0.76300	5.29	5.29	0.74430	2.501000	0.45049	9.733000	0.81406	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:0.0:1.0:0.0	14.303	0.65922	432	0.80690	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1683.11	36	chr1	156930528	.	G	C	1683.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.522;DP=834;ExcessHet=0.1072;FS=0.562;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.46;ReadPosRankSum=-7.060e-01;SOR=0.608	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	19	0	2	0
chr1	157544364	157544364	T	C	exonic	FCRL5	.	nonsynonymous SNV	FCRL5:NM_001195388:exon5:c.A742G:p.T248A	.	.	436	1077	9	0	0	9	0.00416089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.006	B	0.007	B	0.006	N	1.000	N	-0.385	N	2.69	T	-0.976	T	0.003	T	0.072	0.645	7.463	-8.6	-2.544	-2.287	1.389	0.003	0.00233255892326	0.0002	0.000199681	0.0014	0.0002	0.0059	0	0	0.0005	0.0066	0.0036	0.001119	173	154602	rs150471028	0.0005	0.0005	0.0004	0.0007	0.0037	0.0005	0.0005	0.0034	0.0033	0	0.0023	3.826e-05	0	0.0001	0.0017	0.0003	0.0007	0.0037	0.0003	0.0003	0.0003	0.0004	0.0023	0.0003	0.0002	0.0013	0.0010	0	0	0.0003	0	0	0	0	0.0005	0	0.0023	0.312	0.32141	T	0.246	0.23984	T	0.006	0.13644	B	0.007	0.12992	B	0.005592	0.01086	N	3.156860	1	0.08975	N	-0.02	0.05091	N	2.69	0.12268	T	-0.52	0.16187	N	0.039	0.01577	-0.9764	0.35816	T	0.003	0.00897	T	10	0.0052937865	0.00116	T	0.002333	0.04507	T	0.003	0.00094	.	.	0.0138822411134	0.00435	0.12379366770929005	0.12305	0.0670969358633	0.07497	0.2436953336	0.03133	T	0.002525	0.01914	T	-0.702593	0.00035	T	-0.784108	0.02331	T	0.0185076876855515	0.00566	T	0.157784	0.02071	T	0.013218225	0.00053	0.012743719	0.00000	0.013218225	0.00053	0.012743719	0.00000	-4.475	0.30705	T	.	.	0.067	0.08802	B	.;.;.	.;.;.	-1.381155	0.00374	0.007	0.35035392882797511	0.02176	0.00710	0.03005	N	AEFBI	0.055559	0.10200	N	-2.12225312794012	0.00114	0.004894654	-2.18613977114946	0.00120	0.005281627	0.998474159038588	0.37033	0.732398	0.92422	0	0.743671	0.97443	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.3	-8.6	0.00773	-2.409000	0.01119	-3.779000	0.02542	-1.084000	0.01555	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2864:0.0881:0.2148:0.4107	1.389	0.02112	840	0.37365	Immunoglobulin-like domain|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1170.98	39	chr1	157544364	.	T	C	1170.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.44;DP=894;ExcessHet=0.0000;FS=0.705;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.76;ReadPosRankSum=-5.220e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,103,1399	20	0	1	0
chr1	157547071	157547071	C	T	exonic	FCRL5	.	nonsynonymous SNV	FCRL5:NM_001195388:exon3:c.G179A:p.R60Q	.	.	420	1081	20	1	0	22	0.0100733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.861	P	0.145	B	.	.	1.000	N	1.1	L	4.1	T	-0.909	T	0.001	T	0.055	-0.111	3.458	-5.18	-1.708	-1.747	0.472	0.013	.	0.0033	0.00439297	0.0060	0.0009	0.0050	0	0.0076	0.0067	0.0099	0.0097	0.0056403	872	154602	rs149742136	0.0060	0.0060	0.0059	0.0061	0.0099	0.0059	0.0058	0.0092	0.0090	0.0007	0.0042	0.0051	2.519e-05	0.0083	0.0099	0.0060	0.0059	0.0098	0.0047	0.0047	0.0042	0.0052	0.0114	0.0044	0.0043	0.0090	0.0081	0.0012	0.0274	0.0035	0.0060	0	0.0081	0.0034	0.0061	0.0038	0.0114	0.512	0.12265	T	0.453	0.14456	T	0.033	0.47410	B	0.003	0.33871	B	.	.	.	.	1	0.08975	N	1.155	0.29575	L	4.1	0.02944	T	-0.23	0.10656	N	0.118	0.11626	-0.9087	0.47013	T	0.001	0.00467	T	9	0.014747232	0.00310	T	.	.	.	0.013	0.01715	.	.	0.0551355673512	0.04727	0.15660826637190778	0.15581	0.0767185883067	0.08613	0.183486670256	0.00130	T	4.62E-4	0.00164	T	-0.724556	0.00026	T	-0.805589	0.01767	T	0.00557405409815504	0.00061	T	0.351565	0.07865	T	0.011862541	0.00023	0.024080543	0.00423	0.011862541	0.00023	0.024080543	0.00423	-6.279	0.48556	T	.	.	0.083	0.10787	B	.;.;.	.;.;.	-1.254176	0.00479	0.010	0.65236440234574289	0.07716	0.00424	0.02089	N	AEFBI	0.030513	0.03086	N	-2.10135306459816	0.00127	0.005450461	-2.23036966852545	0.00096	0.00420069	0.0142211442209662	0.12569	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.59	-5.18	0.02624	-1.112000	0.03410	-4.958000	0.01910	-4.630000	0.00024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3421:0.2822:0.1351:0.2406	0.472	0.00498	835	0.38313	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1134.98	34	chr1	157547071	.	C	T	1134.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.427;DP=810;ExcessHet=0.0000;FS=2.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.58;ReadPosRankSum=0.889;SOR=0.969	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1092	20	0	1	0
chr1	157586410	157586410	C	A	exonic	FCRL4	.	nonsynonymous SNV	FCRL4:NM_031282:exon6:c.G893T:p.G298V,	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.941	P	0.643	P	0.029	N	1.000	N	1.45	L	2.8	T	-0.992	T	0.012	T	0.156	0.988	9.033	1.07	0.101	0.255	4.034	0.043	0.00376030301897	.	.	8.38e-06	0	0	0	0	1.526e-05	0	0	6.5e-06	1	154602	rs542587503	1.917e-05	1.915e-05	1.635e-05	2.203e-05	0.0002	1.33e-05	1.145e-05	7.712e-05	5.305e-05	0.0002	0	0	0	0	0.0002	1.439e-05	8.281e-05	0	3.942e-05	3.937e-05	3.857e-05	4.031e-05	4.816e-05	1.715e-05	1.129e-05	7.98e-06	2.99e-06	4.816e-05	0	0	0	0	0	0.0102	0	0.0005	0	0.028	0.46129	D	0.005	0.72224	D	0.941	0.52883	P	0.643	0.52216	P	0.028978	0.25522	N	0.188533	0.999998	0.08975	N	1.7	0.43825	L	2.8	0.11082	T	-5.18	0.83557	D	0.308	0.34767	-0.9922	0.32037	T	0.012	0.04605	T	10	0.2227442	0.39034	T	0.00376	0.08744	T	0.043	0.11576	0.455	0.51938	0.300449992093	0.29664	0.46663775483884545	0.46582	0.212687478302	0.23774	0.276463627815	0.07005	T	0.088716	0.38219	T	-0.276674	0.11024	T	-0.619713	0.11207	T	0.938715517520905	0.60956	D	0.776522	0.40874	T	0.10881976	0.25728	0.15137793	0.35662	0.10881976	0.25728	0.15137793	0.35661	-7.79	0.59630	D	.	.	0.139	0.30450	B	.	.	1.832745	0.23289	15.96	0.98889247434720839	0.47966	0.04260	0.09791	N	AEFBCI	0.052921	0.09490	N	-0.482214232417951	0.22663	1.211745	-0.674444514842679	0.17601	0.9366303	0.0161683409306581	0.12799	0.549168	0.22868	0	0.627178	0.54094	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	4.12	1.07	0.19399	0.071000	0.14461	-2.091000	0.04227	0.545000	0.25583	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.0:0.55:0.2127:0.2372	4.034	0.09203	835	0.38313	Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1948.98	34	chr1	157586410	.	C	A	1948.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.080e+00;DP=904;ExcessHet=0.0000;FS=1.106;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.79;ReadPosRankSum=0.385;SOR=0.798	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1298	20	0	1	0
chr1	157589259	157589259	T	A	exonic	FCRL4	.	nonsynonymous SNV	FCRL4:NM_031282:exon3:c.A252T:p.R84S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.242	B	0.16	B	0.045	N	1.000	N	1.825	L	2.63	T	-0.965	T	0.011	T	0.316	3.279	17.01	-2.26	-0.299	-2.365	4.215	0.024	0.00454654532088	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866959775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.089	0.40426	T	0.242	0.30930	B	0.16	0.34752	B	0.045273	0.23554	N	0.214456	0.999999	0.08975	N	1.425	0.35738	L	2.63	0.12884	T	-3.91	0.73042	D	0.092	0.07125	-0.9652	0.38171	T	0.011	0.03996	T	10	0.14250264	0.27066	T	0.004547	0.11220	T	0.024	0.04979	0.468	0.54052	0.130388298395	0.12655	0.3630950818595733	0.36223	0.171862290109	0.19354	0.204181134701	0.00588	T	0.021935	0.17000	T	-0.267161	0.12076	T	-0.621535	0.11066	T	0.828442394733429	0.48410	D	0.542346	0.18433	T	0.2584523	0.48894	0.17309247	0.39612	0.2584523	0.48894	0.17309247	0.39611	-3.421	0.15340	T	.	.	0.179	0.38994	B	.	.	0.046664	0.04612	1.281	0.98399698967259819	0.41052	0.02141	0.06307	N	AEFBI	0.070947	0.14104	N	-0.927487620670682	0.10203	0.4864387	-1.05526592550736	0.08597	0.4234847	2.29259280293085E-5	0.03498	0.549168	0.22868	0	0.627178	0.54094	0	0.563428	0.18855	0	0.564101	0.26826	0	.	.	4.2	-2.26	0.06478	-2.261000	0.01258	-2.672000	0.03483	-0.786000	0.03287	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.1733:0.4091:0.0:0.4176	4.215	0.09986	835	0.38313	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2522.98	34	chr1	157589259	.	T	A	2522.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.450e-01;DP=887;ExcessHet=0.0000;FS=0.559;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.09;ReadPosRankSum=2.44;SOR=0.611	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1272	20	0	1	0
chr1	157696237	157696237	G	T	exonic	FCRL3	.	nonsynonymous SNV	FCRL3:NM_001320333:exon7:c.C935A:p.A312D	.	.	425	1093	4	0	0	4	0.00182648	.	.	3185040	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.4	T	0.774	P	0.74	P	0.019	N	1.000	N	2.495	M	2.32	T	-1.051	T	0.047	T	0.516	1.998	12.64	4.28	1.158	1.012	11.724	0.177	0.00493325533998	0.0062	0.00279553	0.0048	0.0015	0.0027	0	0.0045	0.0074	0.0044	0.0004	0.0049547	766	154602	rs115903952	0.0075	0.0075	0.0077	0.0073	0.0086	0.0074	0.0074	0.0085	0.0084	0.0011	0.0050	0.0172	0	0.0035	0.0050	0.0086	0.0071	0.0009	0.0054	0.0054	0.0057	0.0052	0.0076	0.0051	0.0050	0.0070	0.0068	0.0017	0.0044	0.0076	0.0153	0	0.0050	0.0034	0.0076	0.0062	0.0008	0.124	0.27426	T	0.339	0.18071	T	0.566	0.39915	P	0.142	0.37929	B	0.019201	0.27313	N	0.174549	1	0.08975	N	2.75	0.80375	M	2.32	0.16640	T	-2.67	0.57110	D	0.462	0.50508	-1.0508	0.14175	T	0.047	0.20156	T	10	0.005212784	0.00113	T	0.004933	0.12411	T	0.177	0.44549	.	.	0.409800938858	0.40592	0.22419077476748778	0.22334	0.0226205030519	0.02283	0.399206340313	0.24957	T	0.012942	0.11287	T	-0.474931	0.00792	T	-0.445587	0.28184	T	0.0324991904981843	0.02389	T	0.560744	0.19617	T	0.3363554	0.55988	0.37444058	0.62609	0.3363554	0.55988	0.37444058	0.62609	-9.316	0.69959	D	.	.	0.147	0.35767	B	.;.	.;.	2.676138	0.34902	19.75	0.99433577622096525	0.64374	0.08416	0.14348	N	AEFBI	0.115972	0.22780	N	-0.279748884527827	0.29931	1.664283	-0.392544628364154	0.25217	1.385516	0.015718760464501	0.12746	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.21	4.28	0.50183	1.177000	0.31578	1.258000	0.25213	0.676000	0.76740	0.003000	0.16062	0.001000	0.17328	0.562000	0.30459	0.0:0.1785:0.8215:0.0	11.724	0.50964	814	0.42100	.;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	rs115903952	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	889.98	34	chr1	157696237	.	G	T	889.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.717;DP=806;ExcessHet=0.0000;FS=0.770;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.90;ReadPosRankSum=0.217;SOR=0.576	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1045	20	0	1	0
chr1	157768450	157768450	G	A	exonic	FCRL2	.	nonsynonymous SNV	FCRL2:NM_001159488:exon5:c.C847T:p.P283S	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.021	B	0.607	N	1.000	N	0.93	L	3.03	T	-0.961	T	0.004	T	0.055	0.238	5.287	-0.855	-0.182	-0.144	3.915	0.029	0.00272137753386	.	.	5.773e-05	0	0	0	0	3e-05	0	0.0003	4.53e-05	7	154602	rs767963189	1.573e-05	1.573e-05	1.225e-05	1.925e-05	0.0002	1.048e-05	8.75e-06	0.0001	0.0001	0	0	0	0	0	0	5.396e-06	0	0.0002	1.972e-05	1.97e-05	0	4.035e-05	0.0004	5.24e-06	2.45e-06	7.301e-05	3.033e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.437	0.09346	T	0.355	0.17217	T	0.002	0.09854	B	0.019	0.18783	B	0.607098	0.05679	N	1.272160	1	0.08975	N	0.37	0.12060	N	3.03	0.08898	T	-3.7	0.70553	D	0.058	0.02964	-0.9605	0.39087	T	0.004	0.01261	T	10	0.049988687	0.04665	T	0.002721	0.05608	T	0.029	0.06676	0.298	0.26362	0.141422826196	0.13715	0.23281759799392385	0.23196	0.0487105635936	0.05321	0.245774447918	0.03336	T	0.202487	0.56067	T	-0.600297	0.00145	T	-0.807913	0.01712	T	0.0231276657432318	0.01038	T	0.541246	0.18358	T	0.065997645	0.14159	0.097799934	0.23292	0.065997645	0.14158	0.097799934	0.23291	-6.117	0.47248	T	.	.	0.092	0.13597	B	.	.	0.105367	0.05059	1.602	0.37488221593784599	0.02473	0.01753	0.05519	N	AEFGBI	0.060787	0.11577	N	-1.48534368723149	0.01953	0.08574672	-1.51409256321515	0.02236	0.1025012	0.00153688804731818	0.08622	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.89	-0.855	0.10158	0.075000	0.14547	0.331000	0.17284	-0.104000	0.15758	0.000000	0.06391	0.000000	0.08366	0.204000	0.22012	0.0963:0.2797:0.4805:0.1435	3.915	0.08721	764	0.49969	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2217.98	34	chr1	157768450	.	G	A	2217.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.454e+00;DP=867;ExcessHet=0.0000;FS=2.644;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=-3.900e-01;SOR=0.522	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1258	20	0	1	0
chr1	157768692	157768692	A	G	exonic	FCRL2	.	nonsynonymous SNV	FCRL2:NM_001159488:exon5:c.T605C:p.I202T	.	.	434	1084	3	0	1	4	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.35	B	0.138	B	0.002	N	1.000	N	2.19	M	2.08	T	-1.010	T	0.029	T	0.12	2.300	13.65	2.93	0.694	2.808	7.779	0.081	0.00441213541016	.	.	0.0003	0.0003	0	0	0	0.0004	0	0.0004	0.0002587	40	154602	rs16839100	0.0006	0.0006	0.0006	0.0006	0.0007	0.0005	0.0005	0.0007	0.0006	0.0002	0.0001	0	0	0	0	0.0007	0.0003	0.0002	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0001	0.0003	0.0003	0.0001	0	0	0	0	0	0	0.0004	0	0	0.003	0.68238	D	0.005	0.72224	D	0.35	0.33644	B	0.09	0.29851	B	0.001589	0.00803	N	5.452700	1	0.08975	N	1.82	0.47800	L	2.08	0.20255	T	-2.6	0.55983	D	0.109	0.09490	-1.0098	0.26981	T	0.029	0.12541	T	10	0.054101437	0.05708	T	0.004412	0.10781	T	0.081	0.23632	0.383	0.40134	0.238096912614	0.23440	0.05450911453818299	0.05392	0.0611303496898	0.06801	0.316133439541	0.12835	T	0.201168	0.55897	T	-0.47508	0.00791	T	-0.596253	0.13128	T	0.0486040751121144	0.05252	T	0.927307	0.73215	D	0.15857881	0.35669	0.20669097	0.44894	0.15857881	0.35669	0.20669097	0.44893	-4.631	0.32559	T	.	.	0.441	0.61770	A	.	.	2.063013	0.26232	17.04	0.97649544806061805	0.35131	0.09724	0.15415	N	AEFBI	0.183466	0.31079	N	-0.483288337406655	0.22629	1.209607	-0.562322770452764	0.20480	1.103537	0.00134429144425349	0.08462	0.516011	0.20929	0	0.610034	0.51514	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.09	2.93	0.33092	2.253000	0.42859	5.663000	0.49226	0.756000	0.94297	0.014000	0.18986	0.534000	0.25378	0.614000	0.31742	0.788:0.212:0.0:0.0	7.779	0.28221	764	0.49969	Immunoglobulin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1124.98	34	chr1	157768692	.	A	G	1124.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.350;DP=811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=0.315;SOR=0.718	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1258	20	0	1	0
chr1	157769983	157769983	G	A	exonic	FCRL2	.	nonsynonymous SNV	FCRL2:NM_001159488:exon4:c.C478T:p.P160S	.	.	429	1040	53	0	0	53	0.0248476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.423	B	0.264	B	0.580	N	1.000	N	0.705	N	4.46	T	-0.957	T	0.002	T	0.215	1.322	10.34	0.007	-0.087	-0.277	4.398	0.021	.	0.0011	0.00379393	0.0036	0.0003	0.0010	0	0.0002	0.0023	0.0044	0.0159	0.0032535	503	154602	rs148305794	0.0023	0.0023	0.0018	0.0028	0.0173	0.0022	0.0022	0.0166	0.0163	0.0002	0.0008	0.0065	7.557e-05	0.0001	0.0116	0.0013	0.0031	0.0173	0.0018	0.0018	0.0017	0.0019	0.0141	0.0016	0.0015	0.0114	0.0104	0.0004	0	0.0008	0.0049	0.0006	0.0002	0.0136	0.0021	0.0028	0.0141	0.219	0.19023	T	0.236	0.24694	T	0.181	0.29111	B	0.17	0.35299	B	0.579767	0.11155	N	0.723684	1	0.08975	N	0.965	0.23975	L	4.46	0.02102	T	-3.99	0.73893	D	0.253	0.28616	-0.9567	0.39789	T	0.002	0.00556	T	10	0.004002124	0.00077	T	.	.	.	0.021	0.04004	.	.	0.0666544352282	0.05500	0.22119002504482954	0.22034	0.0788043633379	0.08867	0.22887390852	0.01886	T	0.206382	0.56571	T	-0.621286	0.00108	T	-0.652237	0.08797	T	0.0390002034673709	0.03511	T	0.753825	0.37593	T	0.05170669	0.09536	0.093767434	0.22163	0.05170669	0.09535	0.093767434	0.22162	-7.183	0.55359	T	.	.	0.103	0.18456	B	.	.	0.225739	0.06078	2.519	0.87320607582066256	0.17143	0.01626	0.05248	N	AEFGBI	0.054106	0.09809	N	-1.03900198144267	0.07805	0.3638216	-1.1024586985933	0.07653	0.3731175	0.00125850611116476	0.08381	0.549168	0.22868	0	0.627178	0.54094	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.25	0.00667	0.13389	0.027000	0.13512	-0.011000	0.13060	0.618000	0.50648	0.054000	0.21560	0.000000	0.08366	0.007000	0.07825	0.2904:0.1662:0.5434:0.0	4.398	0.10802	760	0.50470	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1760.98	33	chr1	157769983	.	G	A	1760.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.061e+00;DP=843;ExcessHet=0.0000;FS=4.859;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=0.971;SOR=0.856	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	20	0	1	0
chr1	158256900	158256900	G	A	exonic	CD1A	.	nonsynonymous SNV	CD1A:NM_001320652:exon4:c.G686A:p.G229D	.	.	401	1113	8	0	0	8	0.00358102	.	.	718289	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.04	D	0.374	B	0.157	B	0.851	N	1.000	N	1.455	L	4.38	T	-0.915	T	0.003	T	0.327	0.916	8.730	0.886	0.382	0.924	5.824	0.037	0.00551610757983	0.0025	0.00119808	0.0027	0.0008	0.0017	0	0.0002	0.0041	0.0011	0.0016	0.0028978	448	154602	rs141060322	0.0038	0.0038	0.0037	0.0038	0.0056	0.0037	0.0036	0.0042	0.0042	0.0010	0.0027	0.0060	0	0.0008	0.0056	0.0043	0.0037	0.0014	0.0028	0.0028	0.0029	0.0027	0.0045	0.0026	0.0025	0.0041	0.0039	0.0007	0	0.0032	0.0055	0	0.0004	0.0068	0.0045	0.0033	0.0017	0.041	0.41915	D	0.028	0.54934	D	0.374	0.34192	B	0.157	0.34536	B	0.850774	0.08964	N	0.916621	1	0.08975	N	0.775	0.19437	N	4.38	0.02255	T	-5.53	0.86073	D	0.199	0.21969	-0.9151	0.46207	T	0.003	0.00994	T	10	0.008817434	0.00200	T	0.005516	0.14197	T	0.037	0.09474	.	.	0.246215685461	0.24236	0.5252002769740619	0.52444	0.204350460978	0.22859	0.295900523663	0.09792	T	0.210616	0.57116	T	-0.542458	0.00324	T	-0.547134	0.17601	T	0.0465838566662096	0.04890	T	0.645335	0.25688	T	0.28336895	0.51369	0.27650347	0.53595	0.28336895	0.51369	0.27650347	0.53594	-9.985	0.73822	D	.	.	0.15	0.33156	B	.	.	2.263302	0.28925	17.96	0.93506498802727323	0.23316	0.01212	0.04309	N	AEFI	0.025633	0.01789	N	-0.818445059053981	0.12839	0.6284719	-0.886663445607987	0.12409	0.6381499	0.997338092546843	0.35509	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.8	0.886	0.18329	0.888000	0.27904	2.057000	0.30374	0.593000	0.32247	0.919000	0.31930	0.108000	0.22760	0.492000	0.28837	0.3529:0.0:0.6471:0.0	5.824	0.17796	878	0.29785	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3839.98	42	chr1	158256900	.	G	A	3839.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.380e-01;DP=1130;ExcessHet=0.0000;FS=3.665;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=-1.176e+00;SOR=0.521	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,114,1710	20	0	1	0
chr1	158643343	158643343	C	T	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon31:c.G4421A:p.R1474Q,	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1686531	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.575	P	0.165	B	0.134	N	0.992	D	2.125	M	0.56	T	-0.970	T	0.097	T	0.347	3.488	17.84	4.32	1.452	5.416	12.687	0.198	0.0751559634797	.	.	6.64e-05	0	0.0002	0.0007	0	0	0	0	5.17e-05	8	154602	rs768582381	1.984e-05	1.984e-05	1.906e-05	2.063e-05	0.0003	1.392e-05	1.204e-05	6.105e-05	3.165e-05	0	6.716e-05	0	0.0001	0	0.0003	1.439e-05	3.313e-05	1.159e-05	1.973e-05	1.971e-05	3.856e-05	0	6.552e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	0	0	6.552e-05	0	0	0	0	2.941e-05	0	0	0.023	0.48186	D	0.053	0.47336	T	0.575	0.38708	P	0.165	0.35019	B	0.133932	0.18534	N	0.292977	0.991938	0.41512	D	2.61	0.76335	M	0.56	0.54540	T	-2.23	0.50012	N	0.424	0.46368	-0.9697	0.37262	T	0.097	0.36445	T	10	0.38039175	0.54149	T	0.075156	0.72218	D	0.198	0.48105	0.648	0.78542	0.729760035194	0.72735	0.3339383866842029	0.33306	0.0495021571329	0.05423	0.325248062611	0.14216	T	0.340016	0.70909	T	-0.279345	0.10737	T	-0.319026	0.42682	T	0.230231721218603	0.21962	T	0.768423	0.39759	T	0.18311456	0.39564	0.14187345	0.33771	0.18311456	0.39564	0.14187345	0.33771	-5.698	0.43676	T	0.6830194794183153	0.75965	0.088	0.11701	B	.;.	.;.	3.321473	0.45682	22.2	0.99891547995524443	0.96513	0.97503	0.75172	D	AEFBI	0.780037	0.71205	D	0.0804100134266155	0.45549	2.80961	0.0865320256324954	0.43868	2.679865	0.999997074734814	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.22	4.32	0.50899	5.677000	0.67810	0.113000	0.14809	0.599000	0.40250	1.000000	0.71638	0.001000	0.17328	0.698000	0.34080	0.0:0.9206:0.0:0.0794	12.687	0.56321	607	0.67291	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2401.98	39	chr1	158643343	.	C	T	2401.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.69;DP=928;ExcessHet=0.0000;FS=1.748;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=0.186;SOR=0.572	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,100,1530	20	0	1	0
chr1	158652571	158652571	C	G	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon23:c.G3271C:p.A1091P,	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.007	N	1.000	D	2.35	M	0.21	T	-0.317	T	0.356	T	0.916	4.979	29.1	5.21	2.722	4.962	17.501	0.543	0.189188174775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.01	0.65728	D	1.0	0.90584	D	0.999	0.92359	D	0.006559	0.31955	N	0.000000	1	0.81001	D	3.005	0.85968	M	0.21	0.59983	T	-4.21	0.75776	D	0.867	0.86404	-0.3168	0.74511	T	0.356	0.71881	T	10	0.9235935	0.91710	D	0.189188	0.86047	D	0.543	0.80960	0.752	0.88237	0.847815033353	0.84635	0.8614089977129892	0.86104	0.243668225337	0.26869	0.683357298374	0.64751	T	0.692392	0.91068	D	0.299143	0.82899	D	0.191922	0.82678	D	0.995458364486694	0.87455	D	0.752925	0.37500	T	0.9427935	0.95532	0.9255177	0.96783	0.9427935	0.95532	0.9255177	0.96784	-11.24	0.80958	D	0.7227345628681306	0.80392	0.977	0.90609	P	.;.	.;.	4.288278	0.65375	24.8	0.99780095318702455	0.86693	0.98107	0.79657	D	AEFGBI	0.853602	0.77057	D	0.775340336010476	0.84542	8.31683	0.739224692975231	0.85351	8.554286	0.999999987283579	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.21	5.21	0.72005	5.242000	0.65211	4.861000	0.45471	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:1.0:0.0:0.0	17.501	0.87628	602	0.67834	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.08333	91.9	94	chr1	158652571	.	C	G	91.9	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-4.158e+00;DP=2340;ExcessHet=0.3300;FS=273.274;InbreedingCoeff=-0.1106;MLEAC=2;MLEAF=0.056;MQ=60.00;MQRankSum=0.00;QD=0.21;ReadPosRankSum=0.823;SOR=10.295	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:161,44:205:44:0|1:158652571_C_G:0,44,4611:158652571	15	0	3	3
chr1	158678434	158678434	A	G	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon6:c.T779C:p.L260P,	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	27883	Elliptocytosis_2|not_provided	MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.024	N	1.000	A	3.42	M	-1.43	T	0.642	D	0.700	D	0.966	2.859	15.52	4.66	2.080	8.035	13.354	0.839	0.242826543064	.	.	2.488e-05	0.0003	0	0	0	0	0	0	1.94e-05	3	154602	rs121918634	6.842e-06	6.84e-06	5.446e-06	8.252e-06	0.0002	3.46e-06	2.52e-06	0.0001	8.684e-05	0.0002	0	0	0	0	0	0	3.313e-05	0	5.256e-05	5.253e-05	3.853e-05	6.725e-05	0.0002	2.557e-05	1.83e-05	9.563e-05	6.961e-05	0.0002	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.013	0.63109	D	1.0	0.90584	D	1.0	0.97372	D	0.024363	0.26274	N	0.000000	1	0.81001	A	3.555	0.93317	H	-1.43	0.80730	T	-6.32	0.90852	D	0.929	0.93370	0.642	0.92447	D	0.700	0.89672	D	9	0.9909502	0.99610	D	0.242827	0.88776	D	0.839	0.94952	0.908	0.98109	0.961458484432	0.96104	0.9090546975298317	0.90879	0.26085393997	0.28643	0.527930021286	0.42742	T	0.721158	0.92121	D	0.229597	0.76683	D	0.371459	0.91123	D	0.975009918212891	0.70747	D	0.565643	0.19997	T	0.9721399	0.98456	0.9374833	0.97601	0.9683769	0.98107	0.9529345	0.98574	-14.304	0.94003	D	0.769383698944818	0.85050	0.928	0.84870	P	.;.	.;.	3.496289	0.48898	22.7	0.99791721544089274	0.87750	0.95258	0.64026	D	AEFBCI	0.962700	0.98439	D	0.628944081631176	0.75013	6.231428	0.443688455940145	0.64311	4.684	0.99989123174347	0.45129	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.66	4.66	0.57857	8.481000	0.90279	11.256000	0.90911	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.167000	0.20881	1.0:0.0:0.0:0.0	13.354	0.60061	637	0.64373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	796.98	33	chr1	158678434	.	A	G	796.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.056;DP=787;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.76;ReadPosRankSum=0.072;SOR=0.657	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1110	20	0	1	0
chr1	158847780	158847780	C	T	exonic	MNDA	.	nonsynonymous SNV	MNDA:NM_002432:exon6:c.C1040T:p.S347F,	.	.	.	.	.	.	.	.	.	.	.	1827070	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.927	P	0.69	P	0.035	N	1.000	N	0.805	L	2.44	T	-1.002	T	0.015	T	0.386	2.116	13.03	-7.62	-1.523	-0.843	2.795	0.129	0.00457489959449	.	.	.	.	.	.	.	.	.	.	.	.	.	rs914856154	6.841e-06	6.84e-06	2.723e-06	1.1e-05	0.0002	3.46e-06	2.52e-06	7.281e-05	5.16e-05	0	0.0002	0	0	0	0	1.799e-06	1.656e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	0.0001	2.19e-06	8.2e-07	2.264e-05	9.08e-06	0	0	0.0001	0	0	0	0	0	0	0	0.005	0.63226	D	0.026	0.55759	D	0.927	0.51527	P	0.69	0.53781	P	0.035411	0.01802	N	2.838470	1	0.08975	N	1.04	0.26193	L	2.44	0.15145	T	-3.44	0.67477	D	0.231	0.25989	-1.0025	0.29197	T	0.015	0.06234	T	10	0.24146497	0.41325	T	0.004575	0.11283	T	0.129	0.35316	0.582	0.70861	0.15556083564	0.15200	0.027549574140398946	0.02704	0.0185571818858	0.01807	0.357647687197	0.19043	T	0.025439	0.19020	T	-0.39456	0.02513	T	-0.549489	0.17374	T	0.336936920881271	0.26502	T	0.366763	0.08556	T	0.17941763	0.39011	0.13178004	0.31637	0.17941763	0.39011	0.13178004	0.31636	-8.575	0.64924	D	.	.	0.182	0.39477	B	.	.	0.507581	0.08767	5.541	0.96332974365955792	0.29456	0.00742	0.03097	N	AEFGBI	0.036604	0.04905	N	-1.15101008708356	0.05763	0.263588	-1.41760565190476	0.03075	0.1427798	0.999268735007299	0.38940	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.81	-7.62	0.01154	-1.051000	0.03618	-8.989000	0.00883	-1.039000	0.01670	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.199:0.4088:0.2751:0.117	2.795	0.05067	889	0.27310	HIN-200/IF120x|HIN-200/IF120x	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3430.08	38	chr1	158847780	.	C	T	3430.08	.	AC=2;AF=0.048;AN=42;DP=847;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.57;SOR=1.047	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1300	20	1	0	0
chr1	159015883	159015883	G	A	exonic	IFI16	.	nonsynonymous SNV	IFI16:NM_001206567:exon3:c.G277A:p.A93T	.	.	428	1078	15	1	0	17	0.00782329	.	.	2806089	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.73	P	0.263	B	.	.	1.000	N	-0.75	N	3.69	T	-1.023	T	0.004	T	0.149	-0.164	3.199	-0.242	-0.006	-0.902	2.325	0.014	0.00359428024699	0.0052	0.00239617	0.0054	0.0013	0.0030	0	0.0023	0.0077	0.0066	0.0049	0.005401	835	154602	rs116270651	0.0063	0.0064	0.0063	0.0064	0.0073	0.0062	0.0062	0.0071	0.0071	0.0007	0.0044	0.0003	0	0.0027	0.0043	0.0073	0.0060	0.0049	0.0053	0.0053	0.0055	0.0052	0.0085	0.0050	0.0049	0.0079	0.0077	0.0014	0.0197	0.0067	0	0	0.0019	0.0068	0.0085	0.0080	0.0046	1.0	0.05262	T	1.0	0.05995	T	0.73	0.42641	P	0.263	0.39594	B	.	.	.	.	1	0.08975	N	-0.695	0.01866	N	2.03	0.20959	T	1.4	0.03352	N	0.083	0.05929	-1.0226	0.22866	T	0.004	0.01295	T	9	0.004086405	0.00080	T	0.003594	0.08216	T	0.014	0.01968	.	.	0.191931220699	0.18833	0.044521644251599775	0.04396	0.466751589387	0.46072	0.2459654212	0.03355	T	0.001824	0.03242	T	-0.625759	0.00102	T	-0.663674	0.08021	T	0.00388578336838126	0.00041	T	0.320668	0.06474	T	0.018096011	0.00331	0.031434305	0.01732	0.018096011	0.00331	0.031434305	0.01732	-3.758	0.20178	T	.	.	0.066	0.09675	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.392076	0.02242	0.229	0.56921182028626138	0.05656	0.00037	0.00318	N	AEFGBCI	0.024370	0.01498	N	-1.58288373110136	0.01352	0.05892081	-1.59270044912762	0.01699	0.07721843	0.999999767281762	0.74766	0.730579	0.87903	0	0.52208	0.09955	0	0.59043	0.30614	0	0.648885	0.59868	0	.	.	2.7	-0.242	0.12396	-1.397000	0.02617	-3.098000	0.03063	-0.105000	0.15698	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6094:0.0:0.1503:0.2403	2.325	0.03961	911	0.21964	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1151.98	36	chr1	159015883	.	G	A	1151.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.470e-01;DP=835;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.64;ReadPosRankSum=0.589;SOR=0.751	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr1	159171785	159171785	-	GCTCCT	exonic	CADM3	.	nonframeshift insertion	CADM3:NM_001127173:exon1:c.20_21insGCTCCT:p.L14_F15insLL	.	.	427	1086	9	0	0	9	0.00412655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	0.0035	0	0.0345	0	0	0.0012	0	0.0238	0.000461	12	26028	rs578171563	0.0005	0.0004	0.0005	0.0006	0.0026	0.0005	0.0005	0.0014	0.0011	0.0002	0.0001	6.936e-05	7.419e-05	4.193e-05	0.0026	0.0006	0.0007	0.0015	0.0006	0.0006	0.0006	0.0006	0.0017	0.0005	0.0004	0.0008	0.0006	0.0004	0	0.0005	0	0	0	0	0.0008	0.0005	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	818.94	25	chr1	159171785	.	C	CGCTCCT	818.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.890e-01;DP=649;ExcessHet=0.0000;FS=7.552;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.13;ReadPosRankSum=1.30;SOR=0.291	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,562	20	0	1	0
chr1	159205894	159205894	C	T	exonic	ACKR1	.	nonsynonymous SNV	ACKR1:NM_001122951:exon2:c.C461T:p.S154F	.	.	425	1081	15	0	1	16	0.00689022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.887	P	0.595	P	0.306	N	0.988	N	-0.345	N	1.79	T	-1.075	T	0.023	T	0.34	3.003	16.02	2.07	0.677	1.436	7.494	0.127	.	0.0006	0.00259585	0.0021	0.0002	0.0003	0.0001	0.0002	0.0006	0.0011	0.0122	0.0018499	286	154602	rs147620003	0.0012	0.0012	0.0008	0.0015	0.0129	0.0011	0.0011	0.0123	0.0120	5.974e-05	0.0004	0.0002	2.519e-05	1.876e-05	0.0036	0.0004	0.0016	0.0129	0.0007	0.0007	0.0007	0.0008	0.0108	0.0006	0.0006	0.0084	0.0076	0.0001	0	0.0003	0	0	9.413e-05	0.0068	0.0006	0.0009	0.0108	0.086	0.33753	T	0.196	0.27943	T	0.887	0.48784	P	0.595	0.50587	P	0.306457	0.14508	N	0.506511	0.988358	0.24419	N	0.345	0.11182	N	1.34	0.34841	T	-0.81	0.22294	N	0.189	0.20660	-1.0754	0.08266	T	0.023	0.09696	T	10	0.008168638	0.00185	T	.	.	.	0.127	0.34888	.	.	0.349204839081	0.34528	0.39414579003088923	0.39329	0.0841297862296	0.09485	0.289785712957	0.08891	T	0.135551	0.46743	T	-0.497793	0.00588	T	-0.477434	0.24720	T	0.0270945296656597	0.01557	T	0.956904	0.83579	D	0.074649796	0.16766	0.08336655	0.19101	0.049851336	0.08915	0.09092037	0.21347	-0.764	0.00772	T	0.2587923289367664	0.34963	0.125	0.26263	B	.;.;.;.	.;.;.;.	3.444626	0.47939	22.5	0.99267088559129502	0.57423	0.28566	0.23589	N	AEFDBCI	0.047740	0.08073	N	-0.218723826749293	0.32365	1.824523	-0.143904829437812	0.33644	1.926659	0.992795635449124	0.32971	0.600919	0.35232	0	0.596877	0.49441	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.23	2.07	0.26004	0.969000	0.28967	2.470000	0.32893	-0.184000	0.09925	0.916000	0.31843	0.999000	0.35428	0.413000	0.27073	0.0:0.1704:0.5089:0.3206	7.494	0.26648	824	0.40336	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1713.98	39	chr1	159205894	.	C	T	1713.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.93;DP=851;ExcessHet=0.0000;FS=10.087;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=24.49;ReadPosRankSum=0.612;SOR=1.204	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr1	159313734	159313734	T	A	exonic	OR10J3	.	nonsynonymous SNV	OR10J3:NM_001004467:exon1:c.A926T:p.N309I,	.	.	430	1088	4	0	0	4	0.00183486	.	.	2343563	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.49	T	0.0	B	0.001	B	.	.	1.000	N	0	N	6.68	T	-1.072	T	0.000	T	0.062	0.998	9.077	-4.28	-0.654	-0.562	4.447	0.015	0.00177054490656	7.7e-05	.	0.0002	0	0.0002	0	0	0.0001	0	0.0009	0.0001682	26	154602	rs200936951	0.0001	0.0001	8.032e-05	0.0001	0.0014	0.0001	9.416e-05	0.0007	0.0006	0	0.0002	0.0015	0	0	0.0014	3.148e-05	0.0002	0.0008	8.572e-05	8.546e-05	0.0001	6.755e-05	0.0006	4.974e-05	3.976e-05	0.0002	9.051e-05	0	0	0	0.0009	0	0	0	8.836e-05	0.0005	0.0006	0.359	0.11957	T	0.116	0.36497	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	6.68	0.00503	T	-0.04	0.07590	N	0.105	0.08925	-1.0722	0.08936	T	0.000	0.00075	T	9	0.016811967	0.00356	T	0.001771	0.03012	T	0.015	0.02232	.	.	0.0716867268079	0.06686	.	.	0.00655855936216	0.00574	0.236597836018	0.02492	T	0.001608	0.01039	T	-0.694009	0.00040	T	-0.858827	0.00855	T	0.0194357567005365	0.00647	T	0.322368	0.06563	T	0.050711617	0.09204	0.046778753	0.06594	0.050711617	0.09204	0.046778753	0.06594	-3.108	0.11388	T	.	.	0.121	0.24967	B	.	.	0.260085	0.06385	2.852	0.7183867808870924	0.09766	0.02373	0.06750	N	AEFI	0.019182	0.00643	N	-1.76615391394601	0.00633	0.02731527	-1.76909077296711	0.00864	0.03858782	2.03711474844023E-4	0.05948	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.28	-4.28	0.03475	-0.556000	0.06082	-0.417000	0.09309	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4247:0.0:0.2319:0.3434	4.447	0.11023	783	0.47268	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2143.98	33	chr1	159313734	.	T	A	2143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.500e-01;DP=1099;ExcessHet=0.0000;FS=4.303;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=-3.830e-01;SOR=0.454	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1429	20	0	1	0
chr1	159440212	159440212	C	T	exonic	OR10J1	.	nonsynonymous SNV	OR10J1:NM_012351:exon1:c.C421T:p.R141C	.	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.000	N	1.000	N	-2.815	N	1.37	T	-0.912	T	0.004	T	0.173	-3.108	0.001	0.683	0.040	0.160	9.597	0.099	0.00494584489593	.	0.00179712	0.0014	0.0005	0	0	0.0002	1.498e-05	0	0.0095	0.0011384	176	154602	rs139843472	0.0007	0.0007	0.0004	0.0010	0.0106	0.0006	0.0006	0.0100	0.0098	0.0002	2.236e-05	0	0	3.744e-05	0.0002	2.878e-05	0.0007	0.0106	0.0003	0.0003	0.0002	0.0005	0.0087	0.0003	0.0002	0.0066	0.0059	0.0002	0	0	0	0	0	0	1.47e-05	0	0.0087	.	.	.	.	.	.	0.0	0.02946	B	0.0	0.01387	B	0.000393	0.44960	N	0.000000	1	0.08975	N	-3.085	0.00011	N	.	.	.	.	.	.	.	.	-0.9117	0.46645	T	0.004	0.01159	T	10	0.0038127005	0.00072	T	0.004946	0.12442	T	0.099	0.28413	.	.	0.158396225186	0.15383	0.16304757454488178	0.16224	0.00575121171634	0.00504	0.186696648598	0.00172	T	8.95E-4	0.00456	T	-0.604513	0.00137	T	-0.633156	0.10177	T	0.00605756772135045	0.00067	T	0.60064	0.22426	T	0.029999483	0.02588	0.038119275	0.03613	0.029999483	0.02588	0.038119275	0.03612	4.759	0.00004	T	.	.	0.059	0.01470	B	.;.;.	.;.;.	-0.624096	0.01508	0.095	0.61012553079584919	0.06603	0.00373	0.01896	N	AEFI	0.033788	0.04074	N	-1.86803983332634	0.00399	0.017158	-1.7159170083544	0.01069	0.04797997	0.0616007159494715	0.15236	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.58	0.683	0.17162	1.196000	0.31807	0.257000	0.16498	-2.805000	0.00184	0.210000	0.24424	0.001000	0.17328	0.002000	0.04165	0.0:0.1681:0.0:0.8319	9.597	0.38745	783	0.47268	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2806.98	129	chr1	159440212	.	C	T	2806.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.17;DP=1544;ExcessHet=0.0000;FS=1.076;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=-2.149e+00;SOR=0.805	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	20	0	1	0
chr1	159714433	159714433	C	T	exonic	CRP	.	nonsynonymous SNV	CRP:NM_000567:exon1:c.G53A:p.G18D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.028	B	0.018	B	0.292	N	1.000	N	1.1	L	2.95	T	-0.930	T	0.008	T	0.103	2.640	14.79	-0.739	-0.047	-0.827	2.086	0.060	0.0052820787297	.	0.000199681	0.0001	0	0	0	0	0	0	0.0009	0.0001035	16	154602	rs540472216	3.284e-05	3.283e-05	1.77e-05	4.814e-05	0.0006	2.544e-05	2.249e-05	0.0004	0.0004	0	0	0	0	0	0	0	0	0.0006	6.59e-06	6.569e-06	0	1.349e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.045	0.44029	D	0.204	0.27235	T	0.009	0.19712	B	0.006	0.18489	B	0.292478	0.03903	N	1.571170	1	0.08975	N	1.555	0.39373	L	2.95	0.09635	T	-1.46	0.45222	N	0.173	0.23125	-0.9305	0.44066	T	0.008	0.02679	T	10	0.026308626	0.00800	T	0.005282	0.13494	T	0.060	0.17295	0.394	0.41935	0.236890367714	0.23314	0.39037862715621	0.38952	0.0323780834979	0.03379	0.325881302357	0.14310	T	0.221421	0.58499	T	-0.591064	0.00165	T	-0.729315	0.04358	T	0.0571334863539784	0.06710	T	0.542746	0.26451	T	0.13265269	0.30881	0.122078165	0.29450	0.13265269	0.30880	0.122078165	0.29449	-6.657	0.51486	T	.	.	0.166	0.36614	B	.;.;.;.	.;.;.;.	0.692774	0.10613	7.317	0.96191327766684787	0.28991	0.02786	0.07497	N	AEFI	0.216441	0.34168	N	-0.867055742965342	0.11632	0.5624385	-0.908280480432592	0.11898	0.6089815	1.25269399375924E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.05	-0.739	0.10560	-0.670000	0.05357	-3.961000	0.02426	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.797000	0.37605	0.29:0.437:0.1637:0.1094	2.086	0.03425	915	0.20917	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	830.98	43	chr1	159714433	.	C	T	830.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.200e-02;DP=842;ExcessHet=0.0000;FS=2.242;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.08;ReadPosRankSum=0.440;SOR=1.122	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,102,1530	20	0	1	0
chr1	159809008	159809008	C	T	exonic	FCRL6	.	stopgain	FCRL6:NM_001004310:exon4:c.C367T:p.R123X	.	.	416	1096	10	0	0	10	0.00454133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	.	.	.	.	0.005	N	1.000	A	.	.	.	.	.	.	.	.	.	2.072	12.88	-4.25	-0.475	-1.277	3.578	.	.	0.0024	0.00199681	0.0022	0.0004	0.0013	0.0010	0.0003	0.0023	0.0022	0.0054	0.0021669	335	154602	rs145922130	0.0017	0.0017	0.0015	0.0018	0.0109	0.0016	0.0016	0.0088	0.0080	0.0005	0.0016	0.0006	0.0004	0.0003	0.0109	0.0016	0.0018	0.0047	0.0016	0.0016	0.0018	0.0015	0.0048	0.0015	0.0014	0.0033	0.0028	0.0005	0	0.0014	0.0009	0.0008	0.0004	0.0136	0.0025	0.0009	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	0.005441	0.01079	N	3.036110	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.233	0.27077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.1661	0.25826	T	-0.0104141	0.69657	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Tolerant	.;.;.;High	5.646380	0.92777	33	0.94286463566834489	0.24586	0.00465	0.02234	N	AEFDBI	0.039168	0.05650	N	-0.363794316794164	0.26767	1.463456	-0.776061364364325	0.15083	0.7914741	0.019726814935807	0.13189	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.54	-4.25	0.03508	-2.320000	0.01200	-12.792000	0.00500	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.3509:0.2211:0.0:0.428	3.578	0.07491	912	0.21483	.;.;.;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1770.98	34	chr1	159809008	.	C	T	1770.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.76;DP=1032;ExcessHet=0.0000;FS=4.777;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=0.024;SOR=1.056	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr1	159826903	159826903	T	A	exonic	SLAMF8	.	nonsynonymous SNV	SLAMF8:NM_001330741:exon1:c.T5A:p.V2D	.	.	425	1092	5	0	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.0	B	0.0	B	0.103	U	1.000	N	0	N	3.39	T	-1.008	T	0.019	T	0.363	0.327	5.774	2.88	0.232	0.787	4.101	0.056	0.00717819440553	.	0.000199681	0.0002	0	8.637e-05	0	0	0.0001	0	0.0008	0.0002135	33	154602	rs201120920	0.0001	0.0001	0.0001	0.0002	0.0008	0.0001	0.0001	0.0006	0.0006	0	2.236e-05	0	0	0	0.0007	0.0001	0.0001	0.0008	7.227e-05	7.219e-05	6.428e-05	8.062e-05	0.0008	3.971e-05	3.127e-05	0.0003	0.0002	0	0	0	0	0	0	0.0068	7.353e-05	0	0.0008	0.008	0.91255	D	0.014	0.62352	D	0.0	0.02946	B	0.0	0.01387	B	0.102890	0.19772	U	0.376285	1	0.08975	N	0	0.06538	N	3.39	0.45248	T	0.29	0.39119	N	0.305	0.34444	-1.0084	0.27416	T	0.019	0.07800	T	10	0.017070293	0.00362	T	0.007178	0.19034	T	0.056	0.15993	0.348	0.34436	0.159798565429	0.15598	0.6072453185574908	0.60656	0.0893861974154	0.10103	0.590074300766	0.51504	T	0.008193	0.07532	T	-0.423552	0.01624	T	-0.475094	0.24968	T	0.0388016178175652	0.03475	T	0.323368	0.06588	T	0.07178514	0.15919	0.09704478	0.23083	0.07178514	0.15919	0.09704478	0.23082	-2.771	0.12202	T	.	.	0.104	0.24020	B	.;.	.;.	1.562697	0.20012	14.55	0.78747315788386296	0.12435	0.11854	0.16904	N	AEFBCI	0.059585	0.11263	N	-1.15487880353692	0.05700	0.2605417	-1.08906060916705	0.07915	0.3869425	0.999847895789174	0.43971	0.497415	0.19182	0	0.607795	0.50457	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.8	2.88	0.32617	0.810000	0.26841	0.044000	0.13909	-0.947000	0.02050	0.567000	0.27481	0.000000	0.08366	0.037000	0.13953	0.1841:0.6228:0.0:0.1931	4.101	0.09485	812	0.42537	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1450.98	39	chr1	159826903	.	T	A	1450.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.862;DP=819;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=0.220;SOR=0.723	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1186	20	0	1	0
chr1	159830016	159830016	T	C	exonic	SLAMF8	.	nonsynonymous SNV	SLAMF8:NM_020125:exon2:c.T191C:p.F64S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.02	B	0.011	B	0.000	D	0.999	N	0.975	L	1.96	T	-0.955	T	0.012	T	0.371	-1.956	0.007	3.3	0.722	1.548	5.940	0.066	0.00475109321857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.947	0.02161	T	0.0	0.92824	D	0.02	0.18235	B	0.011	0.15521	B	0.000254	0.46924	D	0.138721	1	0.21949	N	1.59	0.40313	L	1.96	0.22270	T	-1.4	0.34596	N	0.386	0.42737	-0.9552	0.40060	T	0.012	0.04510	T	10	0.12388924	0.23525	T	0.004751	0.11847	T	0.066	0.19193	0.505	0.59924	0.0611884634855	0.05136	0.5290967223202827	0.52833	0.105735292603	0.11956	0.555747389793	0.46666	T	0.01488	0.12588	T	-0.166753	0.25727	T	-0.477306	0.24733	T	0.0776635225163821	0.09685	T	0.578142	0.20837	T	0.16394989	0.36571	0.12309774	0.29686	0.16394989	0.36570	0.12309774	0.29686	-1.324	0.01440	T	.	.	0.462	0.62801	A	.	.	2.622689	0.34083	19.53	0.48680559594797213	0.04082	0.24627	0.22452	N	AEFBCI	0.099253	0.19984	N	-0.781592612538492	0.13789	0.6819202	-0.746890304435772	0.15798	0.8326886	0.999935867273523	0.46732	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.44	3.3	0.36912	1.536000	0.35678	5.986000	0.52250	0.603000	0.45986	0.743000	0.29058	1.000000	0.68203	0.351000	0.25682	0.0:0.1266:0.0:0.8734	5.940	0.18423	791	0.46100	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1235.98	39	chr1	159830016	.	T	C	1235.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.834e+00;DP=880;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.00;ReadPosRankSum=-1.561e+00;SOR=0.744	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr1	159886572	159886572	G	A	exonic	CFAP45	.	nonsynonymous SNV	CFAP45:NM_012337:exon6:c.C706T:p.R236W,	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.000	D	1.000	D	2.82	M	2.42	T	-1.042	T	0.081	T	0.645	3.943	20.2	3.63	0.681	1.153	8.858	0.218	0.0556038758571	.	.	0.0001	0.0003	0.0002	0.0005	0	2.997e-05	0	0.0004	0.0001294	20	154602	rs112160389	6.362e-05	6.362e-05	4.492e-05	8.251e-05	0.0005	5.295e-05	4.911e-05	0.0003	0.0003	5.974e-05	0.0001	0	5.038e-05	0	0	3.238e-05	0.0001	0.0005	7.235e-05	7.226e-05	5.142e-05	9.427e-05	0.0006	3.975e-05	3.13e-05	0.0002	9.011e-05	4.833e-05	0	0.0001	0	0.0004	0	0	1.47e-05	0.0005	0.0006	0.093	0.32769	T	0.1	0.40586	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	.	.	.	2.42	0.15376	T	-7.04	0.93833	D	0.382	0.42345	-1.0417	0.16800	T	0.081	0.31943	T	9	0.14945376	0.28284	T	0.055604	0.66296	D	0.218	0.51265	.	.	0.315314060047	0.31143	0.675037532265878	0.67441	0.413938751343	0.42082	0.545284330845	0.45192	T	0.178635	0.52935	T	-0.282582	0.10395	T	-0.339139	0.40443	T	0.575100660324097	0.35430	D	0.921608	0.72182	D	0.47525144	0.65611	0.39596504	0.64250	0.47525144	0.65612	0.39596504	0.64250	-11.577	0.82729	D	.	.	0.249	0.48376	B	.;.	.;.	4.079997	0.60688	24.2	0.99861641902565568	0.94002	0.83428	0.42546	D	AEFBI	0.645517	0.62138	D	0.309620255777565	0.56640	3.829142	0.238299351290457	0.51986	3.37671	0.999903131437726	0.45458	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.51	3.63	0.40741	1.328000	0.33364	0.764000	0.21339	-0.129000	0.13216	0.973000	0.34540	0.174000	0.23367	0.988000	0.63387	0.079:0.0:0.7723:0.1487	8.858	0.34397	840	0.37365	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2587.98	33	chr1	159886572	.	G	A	2587.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.890e-01;DP=911;ExcessHet=0.0000;FS=8.064;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=-5.580e-01;SOR=0.661	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1287	20	0	1	0
chr1	160093904	160093904	C	T	exonic	IGSF8	.	nonsynonymous SNV	IGSF8:NM_001320247:exon3:c.G710A:p.R237Q	.	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	D	1.000	D	2.01	M	2.01	T	-1.014	T	0.093	T	0.333	4.796	27.1	3.74	2.100	6.903	14.832	0.347	0.0124513374642	0.0002	.	2.477e-05	0	8.651e-05	0	0	3.005e-05	0	0	2.59e-05	4	154602	rs376048695	2.531e-05	2.531e-05	2.45e-05	2.613e-05	3.058e-05	1.868e-05	1.631e-05	2.201e-05	1.942e-05	0	2.236e-05	0	0	0	0	3.058e-05	3.311e-05	0	6.568e-06	6.566e-06	1.284e-05	0	2.411e-05	0	0	.	.	2.411e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000164	0.48594	D	0.081011	0.999995	0.58761	D	2.715	0.79425	M	2.01	0.21291	T	-3.69	0.71762	D	0.544	0.57177	-1.0139	0.25688	T	0.093	0.35309	T	10	0.71545184	0.73316	D	0.012451	0.31033	T	0.347	0.66863	.	.	0.502191834036	0.49857	0.8750473069461401	0.87471	0.657864007045	0.58718	0.709457039833	0.68514	T	0.429651	0.77838	T	-0.142974	0.29417	T	-0.312697	0.43369	T	0.965403497219086	0.67257	D	0.863414	0.55914	D	0.6515038	0.75445	0.55123574	0.74051	0.6515038	0.75446	0.55123574	0.74051	-10.347	0.75963	D	.	.	0.227	0.53785	B	.;.;.;.	.;.;.;.	5.092273	0.85040	28.5	0.99953086743010422	0.99957	0.99163	0.92158	D	AEFDBI	0.873978	0.79662	D	0.645475101598212	0.76078	6.420285	0.575611271533166	0.73195	5.931086	0.999999999200333	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	3.74	3.74	0.42108	7.511000	0.80606	3.301000	0.37383	0.549000	0.26987	1.000000	0.71638	0.998000	0.33993	0.801000	0.37776	0.0:1.0:0.0:0.0	14.832	0.69787	754	0.51307	Immunoglobulin subtype;Immunoglobulin subtype;Immunoglobulin subtype;Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4311.98	41	chr1	160093904	.	C	T	4311.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.25;DP=1029;ExcessHet=0.0000;FS=6.666;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.73;ReadPosRankSum=0.733;SOR=0.617	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1226	20	0	1	0
chr1	160094907	160094907	C	T	exonic	IGSF8	.	nonsynonymous SNV	IGSF8:NM_001320247:exon2:c.G404A:p.R135H	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.914	P	0.413	B	0.289	N	0.978	N	1.32	L	3.47	T	-0.980	T	0.010	T	0.308	3.553	18.12	-1.29	-0.104	-0.605	6.247	0.054	0.014839502296	7.7e-05	0.000199681	0.0002	0	0	0	0	0.0002	0	0.0006	0.0001617	25	154602	rs200550632	0.0001	0.0001	0.0001	0.0002	0.0010	0.0001	0.0001	0.0005	0.0004	8.961e-05	4.472e-05	0	2.519e-05	0	0.0010	9.803e-05	0.0002	0.0006	7.894e-05	7.876e-05	0.0001	4.037e-05	0.0002	4.501e-05	3.516e-05	3.764e-05	2.576e-05	7.239e-05	0	6.551e-05	0	0	0	0.0034	8.826e-05	0	0.0002	0.029	0.48642	D	0.036	0.52060	D	0.914	0.50529	P	0.413	0.44885	B	0.289261	0.14799	N	0.619503	0.978279	0.25259	N	2.16	0.60381	M	3.47	0.10291	T	-2.89	0.61580	D	0.243	0.27435	-0.9802	0.34955	T	0.010	0.03582	T	10	0.0695855	0.10004	T	0.01484	0.35215	T	0.054	0.15330	.	.	0.209622950755	0.20551	0.27299928696337755	0.27212	0.17504778122	0.19705	0.219588875771	0.01286	T	0.258483	0.62964	T	-0.451286	0.01110	T	-0.549758	0.17350	T	0.207217581590296	0.20807	T	0.691931	0.30670	T	0.09813382	0.23142	0.07663439	0.16992	0.09813382	0.23142	0.07663439	0.16992	-5.711	0.43791	T	.	.	0.077	0.08033	B	.;.;.;.	.;.;.;.	1.950652	0.24774	16.52	0.99862121278883798	0.94093	0.15693	0.19036	N	AEFDBI	0.133961	0.25380	N	-0.269136141573587	0.30347	1.691248	-0.352715254382438	0.26424	1.459517	0.990305036735379	0.32108	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.655142	0.61905	0	.	.	4.89	-1.29	0.08805	-0.707000	0.05143	-2.063000	0.04269	-0.173000	0.11020	0.004000	0.16614	0.000000	0.08366	0.822000	0.38733	0.0:0.2743:0.1448:0.5809	6.247	0.20033	754	0.51307	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1300.98	37	chr1	160094907	.	C	T	1300.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.076e+00;DP=779;ExcessHet=0.0000;FS=2.049;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.13;ReadPosRankSum=-2.440e-01;SOR=0.488	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1351	20	0	1	0
chr1	160164164	160164164	C	T	exonic	ATP1A4	.	nonsynonymous SNV	ATP1A4:NM_144699:exon7:c.C787T:p.R263W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.984	D	0.000	D	1.000	D	3.08	M	-2.77	D	0.674	D	0.803	D	0.623	2.245	13.46	3.55	2.512	-0.283	5.196	0.475	0.0285851485943	0.0005	0.000199681	0.0003	0.0003	0	0	0	0.0005	0	0.0003	0.0003752	58	154602	rs146761116	0.0008	0.0008	0.0008	0.0009	0.0010	0.0008	0.0008	0.0009	0.0009	2.987e-05	0.0001	0	0	0	0.0002	0.0010	0.0011	0.0006	0.0005	0.0005	0.0003	0.0006	0.0025	0.0004	0.0003	0.0014	0.0011	0.0001	0	6.54e-05	0	0	0	0	0.0007	0.0005	0.0025	0.001	0.78490	D	0.062	0.45318	T	1.0	0.90584	D	0.984	0.76113	D	0.000209	0.47681	D	0.183165	0.609171	0.30875	N	2.56	0.74772	M	-2.77	0.90904	D	-4.89	0.81431	D	0.335	0.37613	0.674	0.92842	D	0.803	0.93347	D	10	0.19441065	0.35250	T	0.028585	0.51241	D	0.475	0.76751	.	.	0.954137886206	0.95365	0.7293251397147187	0.72877	0.210292740051	0.23518	0.222444012761	0.01455	T	0.710809	0.91750	D	-0.161534	0.26523	T	-0.0120729	0.69549	D	0.246555286998863	0.22718	T	0.979702	0.93041	D	0.6042626	0.72920	0.58212376	0.75776	0.6042626	0.72921	0.58212376	0.75776	-10.488	0.76778	D	.	.	0.116	0.23500	B	.	.	2.605800	0.33832	19.46	0.99913476469262241	0.98238	0.34187	0.25008	N	AEFBCI	0.400271	0.47522	N	0.312798971305782	0.56804	3.845881	0.115402261499679	0.45335	2.798545	0.999972671131777	0.50053	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.54	3.55	0.39770	0.046000	0.13919	0.344000	0.17410	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.040000	0.14268	0.2037:0.6931:0.0:0.1032	5.196	0.14565	579	0.69780	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1704.98	36	chr1	160164164	.	C	T	1704.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.38;DP=876;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.53;ReadPosRankSum=-5.810e-01;SOR=0.772	GT:AD:DP:GQ:PL	0/1:65,61:126:99:1719,0,1776	20	0	1	0
chr1	160164403	160164403	G	-	exonic	ATP1A4	.	frameshift deletion	ATP1A4:NM_144699:exon7:c.1026delG:p.L344Cfs*9,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.118e-05	0	8.637e-05	0	0	5.994e-05	0	0	3.23e-05	5	154602	rs770225721	2.873e-05	2.873e-05	3.131e-05	2.613e-05	0.0001	2.151e-05	1.908e-05	5.805e-05	3.952e-05	0	0.0001	3.826e-05	0	0	0	2.788e-05	1.656e-05	3.478e-05	4.597e-05	4.594e-05	3.854e-05	5.373e-05	0.0003	2.108e-05	1.526e-05	0.0001	8.281e-05	0	0	0.0003	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	907.94	36	chr1	160164402	.	AG	A	907.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.160e-01;DP=952;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=-1.350e-01;SOR=0.602	GT:AD:DP:GQ:PL	0/0:81,0:81:99:0,120,1800	20	0	1	0
chr1	160171381	160171381	T	G	exonic	ATP1A4	.	nonsynonymous SNV	ATP1A4:NM_144699:exon11:c.T1622G:p.M541R,	.	.	428	1086	8	0	0	8	0.00366972	.	.	731797	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.77	P	0.553	P	0.000	D	1.000	D	-0.225	N	-1.21	T	-0.674	T	0.161	T	0.769	1.378	10.54	3.32	1.991	0.628	7.934	0.434	.	7.7e-05	0.0171725	0.0071	0.0003	0.0065	0.0869	0	4.495e-05	0.0044	0.0019	0.0068304	1056	154602	rs16831482	0.0022	0.0022	0.0023	0.0022	0.0611	0.0022	0.0022	0.0591	0.0582	0.0003	0.0055	0.0002	0.0611	0	0.0002	5.036e-05	0.0057	0.0022	0.0033	0.0033	0.0027	0.0040	0.0768	0.0031	0.0030	0.0705	0.0681	0.0002	0	0.0036	0	0.0768	0	0	4.411e-05	0.0043	0.0064	0.037	0.43085	D	0.39	0.15506	T	0.77	0.43887	P	0.553	0.49313	P	0.000007	0.62929	D	0.144052	0.883982	0.35809	D	-0.685	0.02019	N	-1.21	0.78645	T	-3.37	0.66665	D	0.306	0.34552	-0.6743	0.61634	T	0.161	0.49598	T	10	0.0025234818	0.00038	T	.	.	.	0.434	0.73951	.	.	0.89566607057	0.89463	0.8675511407332795	0.86720	0.514949807208	0.49418	0.411724627018	0.26695	T	0.345406	0.71380	T	-0.248018	0.14343	T	-0.0622307	0.66176	T	0.0486012126319249	0.05252	T	0.833317	0.50212	T	0.6841796	0.77195	0.5537717	0.74194	0.6841796	0.77196	0.5537717	0.74195	-8.529	0.64621	D	.	.	0.219	0.44973	B	.	.	2.846573	0.37571	20.5	0.94838631062208512	0.25627	0.84110	0.43194	D	AEFDBI	0.309233	0.41560	N	-0.262965702104028	0.30588	1.707046	-0.288904992484346	0.28462	1.587208	0.999836376108437	0.43792	0.559995	0.30671	0	0.491513	0.07743	0	0.527494	0.11647	0	0.530356	0.10902	0	.	.	4.43	3.32	0.37134	0.666000	0.24779	1.867000	0.29361	0.665000	0.62972	0.912000	0.31733	1.000000	0.68203	0.080000	0.17246	0.0:0.1004:0.0:0.8996	7.934	0.29080	407	0.82314	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	473.98	33	chr1	160171381	.	T	G	473.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.020;DP=794;ExcessHet=0.0000;FS=0.940;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.32;ReadPosRankSum=-1.833e+00;SOR=0.711	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1041	20	0	1	0
chr1	160173608	160173608	A	G	exonic	ATP1A4	.	nonsynonymous SNV	ATP1A4:NM_144699:exon13:c.A1882G:p.I628V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.45	B	0.451	P	0.000	D	1.000	D	0.485	N	-3.82	D	0.522	D	0.685	D	0.571	4.027	20.7	4.34	1.951	9.107	11.806	0.619	0.0528268473045	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1437974132	3.42e-05	3.42e-05	3.267e-05	3.575e-05	0.0005	2.631e-05	2.375e-05	0.0001	7.541e-05	0	6.708e-05	0	0	0	0.0005	3.777e-05	1.656e-05	1.159e-05	7.227e-05	7.223e-05	3.853e-05	0.0001	0.0006	3.971e-05	3.127e-05	0.0003	0.0002	0	0	0.0006	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.315	0.19421	T	0.45	0.36066	B	0.451	0.46123	P	0.000000	0.84330	D	0.000000	0.999938	0.51612	D	0.37	0.12060	N	-3.82	0.95761	D	-0.75	0.21003	N	0.577	0.59901	0.522	0.90854	D	0.685	0.89114	D	10	0.43144524	0.57517	T	0.052827	0.65225	D	0.619	0.85196	0.524	0.62818	0.870136083886	0.86887	0.6093199799835259	0.60863	0.161212236741	0.18198	0.598819732666	0.52738	T	0.057417	0.30559	T	0.078953	0.61918	D	0.0726055	0.75084	D	0.417566949414181	0.29601	T	0.966803	0.87909	D	0.41407615	0.61695	0.35547343	0.61074	0.41407615	0.61696	0.35547343	0.61073	-9.112	0.68414	D	.	.	0.085	0.10400	B	.	.	4.009863	0.59151	24.1	0.99894187142933988	0.96742	0.98395	0.82339	D	AEFBI	0.925452	0.90502	D	0.261522232730489	0.54212	3.587318	0.367281741989506	0.59556	4.134405	0.999999997981084	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	4.34	4.34	0.51267	7.463000	0.79901	11.124000	0.86623	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	11.806	0.51425	397	0.82902	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	686.98	35	chr1	160173608	.	A	G	686.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.851;DP=797;ExcessHet=0.0000;FS=1.798;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.63;ReadPosRankSum=1.99;SOR=0.967	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1336	20	0	1	0
chr1	160186343	160186343	C	T	exonic	ATP1A4	.	nonsynonymous SNV	ATP1A4:NM_001001734:exon4:c.C445T:p.L149F	.	.	418	1095	9	0	0	9	0.00409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.001	B	0.004	B	0.018	N	1.000	N	-0.15	N	-4.1	D	-0.374	T	0.401	T	0.062	1.982	12.58	-3.84	-0.535	0.087	6.978	0.227	.	0.0045	0.00778754	0.0021	0.0173	0.0015	0	0	0.0008	0.0045	0.0004	0.0021927	339	154602	rs114357990	0.0010	0.0010	0.0010	0.0010	0.0201	0.0009	0.0009	0.0188	0.0183	0.0201	0.0016	0.0067	0	0	0.0135	0.0002	0.0022	0.0004	0.0055	0.0055	0.0055	0.0054	0.0179	0.0052	0.0050	0.0168	0.0164	0.0179	0	0.0027	0.0060	0	0	0.0068	0.0002	0.0038	0.0004	0.416	0.09958	T	0.505	0.11004	T	0.001	0.07471	B	0.004	0.10090	B	0.017898	0.27612	N	0.317994	1	0.08975	N	0.075	0.08292	N	-4.1	0.96659	D	0.09	0.05917	N	0.199	0.24260	-0.3743	0.72830	T	0.401	0.75209	T	10	0.006792873	0.00154	T	.	.	.	0.227	0.52620	.	.	0.795181792715	0.79327	0.7139106149144214	0.71334	0.181752268557	0.20427	0.289408177137	0.08836	T	0.343357	0.71202	T	-0.414102	0.01867	T	-0.353325	0.38825	T	0.00236722522557901	0.00024	T	0.967103	0.88413	D	0.03802285	0.04986	0.051709294	0.08375	0.03802285	0.04986	0.051709294	0.08375	-4.125	0.25658	T	.	.	0.057	0.00806	B	.;.	.;.	-0.286163	0.02679	0.345	0.93657171018291085	0.23545	0.16134	0.19247	N	AEFDBI	0.075956	0.15269	N	-1.08198289900748	0.06975	0.3226638	-1.06589941659854	0.08378	0.4117222	0.0202234474717977	0.13237	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.95	-3.84	0.03976	0.201000	0.17074	-3.618000	0.02653	-0.188000	0.09543	0.327000	0.25564	0.000000	0.08366	0.191000	0.21631	0.0:0.4092:0.1159:0.4749	6.978	0.23868	363	0.84772	Cation-transporting P-type ATPase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1358.98	36	chr1	160186343	.	C	T	1358.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.012e+00;DP=839;ExcessHet=0.0000;FS=0.869;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.37;ReadPosRankSum=-1.700e+00;SOR=0.904	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr1	160419212	160419212	C	T	exonic	VANGL2	.	nonsynonymous SNV	VANGL2:NM_020335:exon4:c.C403T:p.R135W,	Neural tube defects, Autosomal dominant	.	405	1116	1	0	0	1	0.000447828	.	.	2839803	Neural_tube_defect	Human_Phenotype_Ontology:HP:0045005,MONDO:MONDO:0018075,MedGen:C0027794,Orphanet:3388,Orphanet:823	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.82	P	0.000	D	1.000	D	2.14	M	-1.56	D	0.212	D	0.564	D	0.893	4.308	22.6	5.08	2.503	2.855	12.499	0.692	0.107417178333	.	.	9.96e-05	0	0	0	0	0.0002	0	0	8.41e-05	13	154602	rs757382979	8.906e-05	8.961e-05	9e-05	8.812e-05	0.0016	7.633e-05	7.178e-05	0.0008	0.0006	8.961e-05	0	0	0	0	0.0016	9.893e-05	0.0001	0	4.6e-05	4.597e-05	5.14e-05	4.035e-05	0.0001	2.109e-05	1.527e-05	2.262e-05	1.125e-05	0	0	0.0001	0	0	0	0	5.881e-05	0.0005	0	0.002	0.72154	D	0.014	0.62352	D	0.998	0.73220	D	0.82	0.59072	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.98	0.53716	M	-1.56	0.81815	D	-3.08	0.63323	D	0.887	0.88577	0.212	0.86120	D	0.564	0.84138	D	10	0.8581368	0.85020	D	0.107417	0.78348	D	0.692	0.88820	.	.	0.777260103886	0.77521	0.7994527969287729	0.79899	1.42610141697	0.85714	0.741966843605	0.73263	T	0.751721	0.93201	D	0.173509	0.71444	D	0.266503	0.86403	D	0.663174986839294	0.39036	D	0.982268	0.94010	D	0.4874394	0.66350	0.33923367	0.59691	0.4874394	0.66351	0.33923367	0.59690	-12.277	0.86174	D	.	.	0.332	0.55383	B	.	.	5.455724	0.91107	32	0.99931141536820711	0.99387	0.92859	0.56721	D	AEFDBI	0.736332	0.68187	D	0.612605194887195	0.73969	6.054057	0.593558986240236	0.74475	6.143627	0.999994435970487	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	5.08	5.08	0.68373	2.949000	0.48766	4.001000	0.41074	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1671:0.8329:0.0:0.0	12.499	0.55291	764	0.49969	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1118.98	39	chr1	160419212	.	C	T	1118.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.423e+00;DP=816;ExcessHet=0.0000;FS=6.011;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.99;ReadPosRankSum=2.45;SOR=0.890	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1268	20	0	1	0
chr1	160549938	160549938	G	A	exonic	CD84	.	stopgain	CD84:NM_001184881:exon5:c.C802T:p.R268X,	.	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	.	.	.	.	.	.	0.964	D	.	.	.	.	.	.	.	.	.	3.605	18.35	3.59	1.248	0.405	8.397	.	.	0.0002	.	0.0003	0.0002	0	0	0.0002	0.0004	0	0.0006	0.0002975	46	154602	rs200129612	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0004	0.0004	2.989e-05	2.236e-05	0	0.0001	0.0007	0.0003	0.0003	0.0002	0.0005	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0003	4.821e-05	0	6.543e-05	0	0.0002	9.441e-05	0.0068	0.0005	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.964287	0.38398	D	.	.	.	.	.	.	.	.	.	0.572	0.59478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.616906	0.00115	T	-0.725039	0.04556	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	0.434440	0.08048	4.769	0.98755560694626721	0.45724	0.11119	0.16420	N	AEFGBHCI	0.040170	0.05939	N	-0.449885316862761	0.23744	1.277215	-0.53972118335338	0.21079	1.138636	0.99999426341836	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.51	3.59	0.40253	0.468000	0.21763	1.900000	0.29576	-0.108000	0.15293	0.181000	0.24076	0.982000	0.30508	0.004000	0.06068	0.107:0.0:0.893:0.0	8.397	0.31722	818	0.41518	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1020.98	39	chr1	160549938	.	G	A	1020.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.070e-01;DP=804;ExcessHet=0.0000;FS=4.767;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.37;ReadPosRankSum=0.761;SOR=1.160	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1318	20	0	1	0
chr1	160681129	160681129	C	0	exonic	CD48	.	.	.	.	.	433	1028	11	0	50	61	0.00532172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1504.46	50	chr1	160681129	.	C	A,*	1504.46	.	AC=2,2;AF=0.048,0.048;AN=42;BaseQRankSum=2.28;DP=967;ExcessHet=0.6776;FS=7.137;InbreedingCoeff=-0.1053;MLEAC=2,2;MLEAF=0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=7.45;ReadPosRankSum=-7.970e-01;SOR=1.227	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0,0:41:99:.:.:0,105,1575,105,1575,1575	17	0	2	0
chr1	160881956	160881956	C	T	splicing	ITLN1	NM_017625:exon4:c.405+1G>A	.	.	.	.	.	.	.	.	.	.	.	0.9998	0.872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.506	10.99	3.03	0.838	3.888	11.229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1461642195	2.736e-06	2.736e-06	0	5.5e-06	1.159e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	1.159e-05	1.314e-05	1.313e-05	0	2.69e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101654	0.64471	D	-0.0917582	0.64029	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.485647	0.95288	34	0.97868251938024553	0.36513	0.93796	0.59215	D	AEFDBI	.	.	.	0.760877624974521	0.83613	8.063083	0.512990893291992	0.68862	5.279149	0.361270909602802	0.19780	0.053691	0.00478	0	0.060609	0.00678	0	0.060301	0.00762	0	0.057018	0.00518	0	0.23019	0.31750	3.96	3.03	0.34070	3.931000	0.56242	1.694000	0.28089	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.8125:0.1875:0.0	11.229	0.48133	779	0.47767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2073.98	40	chr1	160881956	.	C	T	2073.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.969;DP=939;ExcessHet=0.0000;FS=0.548;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.88;MQRankSum=-1.207e+00;QD=11.09;ReadPosRankSum=-1.438e+00;SOR=0.783	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1321	20	0	1	0
chr1	160882109	160882109	C	T	exonic	ITLN1	.	nonsynonymous SNV	ITLN1:NM_017625:exon4:c.G253A:p.V85M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.971	D	0.001	N	0.993	D	2.92	M	-3.18	D	0.840	D	0.852	D	0.496	3.590	18.28	3.26	0.944	2.927	9.525	0.656	0.0367771275227	7.7e-05	0.000199681	3.311e-05	9.612e-05	0	0	0	3.005e-05	0	6.204e-05	3.23e-05	5	154602	rs147176765	3.078e-05	3.078e-05	3.267e-05	2.888e-05	0.0002	2.347e-05	2.095e-05	7.713e-05	5.305e-05	0.0002	0	0	2.519e-05	0	0	2.968e-05	4.968e-05	2.319e-05	5.253e-05	5.249e-05	3.854e-05	6.715e-05	9.624e-05	2.555e-05	1.829e-05	3.243e-05	1.91e-05	9.624e-05	0	0	0	0	0	0	5.88e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.971	0.72444	D	0.001283	0.39521	N	0.096927	0.992698	0.41717	D	3.565	0.93411	H	-3.18	0.93111	D	-2.9	0.60827	D	0.306	0.34552	0.840	0.94907	D	0.852	0.95066	D	10	0.6190612	0.67873	D	0.036777	0.57205	D	0.656	0.87085	.	.	0.96693425096	0.96657	0.5220585118584994	0.52128	0.543021954429	0.51389	0.594590723515	0.52142	T	0.494769	0.81777	T	0.00520552	0.52371	T	0.00636945	0.70748	D	0.941548347473145	0.61490	D	0.938006	0.76748	D	0.5080618	0.67566	0.26893297	0.52768	0.5080618	0.67567	0.26893297	0.52767	-10.454	0.76583	D	.	.	0.417	0.60506	A	.	.	3.357994	0.46347	22.3	0.99884973108170982	0.96049	0.74248	0.36319	D	AEFDBHI	0.529274	0.55045	D	0.465011541734742	0.65058	4.775155	0.313600221031989	0.56338	3.797019	0.777577761371551	0.23778	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.17	3.26	0.36471	2.242000	0.42756	-0.579000	0.08386	0.599000	0.40250	0.994000	0.38300	0.000000	0.08366	0.695000	0.33988	0.0:0.8947:0.0:0.1053	9.525	0.38325	779	0.47767	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2278.98	40	chr1	160882109	.	C	T	2278.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.41;DP=2145;ExcessHet=0.0000;FS=0.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.85;MQRankSum=-1.009e+00;QD=13.73;ReadPosRankSum=2.62;SOR=0.603	GT:AD:DP:GQ:PL	0/0:127,0:127:99:0,120,1800	20	0	1	0
chr1	160945264	160945264	G	A	exonic	ITLN2	.	nonsynonymous SNV	ITLN2:NM_080878:exon8:c.C854T:p.P285L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.951	D	0.004	U	1.000	D	3.1	M	2.6	T	-0.930	T	0.088	T	0.601	2.782	15.26	4.17	2.014	4.255	14.351	0.264	0.00346740517504	7.7e-05	.	1.688e-05	0	0	0	0	1.523e-05	0	6.575e-05	1.29e-05	2	154602	rs372070533	3.417e-05	3.352e-05	3.054e-05	3.784e-05	7.381e-05	2.616e-05	2.357e-05	3.147e-05	2.485e-05	3.184e-05	0	0	0	0	0	3.712e-05	1.689e-05	7.381e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.547e-05	0	0	0	0	1.47e-05	0	0.0002	0.003	0.68238	D	0.011	0.64786	D	0.994	0.66517	D	0.951	0.68939	D	0.004247	0.33945	U	0.113903	0.999971	0.53665	D	3.48	0.92553	M	2.6	0.13204	T	-7.35	0.94620	D	0.404	0.44474	-0.9303	0.44095	T	0.088	0.34023	T	10	0.4403708	0.58062	T	0.003467	0.07847	T	0.264	0.57741	.	.	0.463672176093	0.45992	0.32992956969676157	0.32905	0.187649354563	0.21084	0.520156681538	0.41648	T	0.209959	0.57032	T	-0.124978	0.32310	T	-0.297318	0.45008	T	0.733626365661621	0.42399	D	0.871813	0.57812	D	0.29728448	0.52659	0.3357113	0.59382	0.29728448	0.52659	0.3357113	0.59381	-6.424	0.49696	T	.	.	0.160	0.35288	B	.	.	2.925576	0.38855	20.8	0.99753891194050281	0.84460	0.77465	0.38091	D	ALL	0.395297	0.47221	N	0.441973494100598	0.63749	4.614716	0.255437700284434	0.52959	3.467414	0.999999999690804	0.74766	0.706298	0.61202	0	0.627178	0.54094	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	4.17	4.17	0.48303	4.331000	0.59057	1.139000	0.24389	0.526000	0.24426	1.000000	0.71638	0.845000	0.27336	0.203000	0.21983	0.0:0.0:1.0:0.0	14.351	0.66266	632	0.64850	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	870.98	33	chr1	160945264	.	G	A	870.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.100e-01;DP=799;ExcessHet=0.0000;FS=1.686;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.27;ReadPosRankSum=0.774;SOR=0.506	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1098	20	0	1	0
chr1	160947939	160947939	T	C	exonic	ITLN2	.	nonsynonymous SNV	ITLN2:NM_080878:exon7:c.A815G:p.N272S,	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.632	P	0.394	B	0.000	U	0.644	D	3.055	M	2.19	T	-1.000	T	0.060	T	0.212	2.804	15.34	4.4	1.726	5.586	11.855	0.148	0.00315166944981	.	0.000599042	0.0005	0	0	0	0	0	0	0.0039	0.0004334	67	154602	rs560960305	0.0002	0.0002	0.0001	0.0003	0.0033	0.0002	0.0002	0.0030	0.0029	0	0	0	0	0	0.0003	1.08e-05	0.0004	0.0033	6.567e-05	6.562e-05	5.14e-05	8.06e-05	0.0019	3.515e-05	2.615e-05	0.0010	0.0007	0	0	0	0	0	0	0	1.47e-05	0	0.0019	0.054	0.38633	T	0.078	0.42261	T	0.632	0.40232	P	0.271	0.39904	B	0.000079	0.52346	U	0.000000	0.644391	0.32905	D	3.51	0.92865	H	2.19	0.18724	T	-4.36	0.76980	D	0.43	0.46928	-0.9998	0.29973	T	0.060	0.25163	T	10	0.011669397	0.00254	T	0.003152	0.06876	T	0.148	0.39182	0.476	0.55342	0.266385636622	0.26244	0.26495099866577954	0.26408	0.352119681609	0.37051	0.708202242851	0.68333	T	0.148777	0.48748	T	-0.489732	0.00652	T	-0.476763	0.24791	T	0.291767872796815	0.24663	T	0.963754	0.86559	D	0.31491455	0.54208	0.16912967	0.38923	0.31491455	0.54208	0.16912967	0.38923	-5.482	0.41700	T	.	.	0.162	0.35849	B	.	.	2.848040	0.37596	20.5	0.99641765481040245	0.76695	0.94973	0.62978	D	AEFDBI	0.380717	0.46325	N	0.373545481109358	0.59991	4.183584	0.356216295056561	0.58882	4.061792	0.999989257257447	0.51787	0.632932	0.41330	0	0.59043	0.45803	0	0.601832	0.32385	0	0.663205	0.64265	0	.	.	4.4	4.4	0.52402	3.966000	0.56502	2.745000	0.34492	0.519000	0.23678	1.000000	0.71638	0.999000	0.35428	0.982000	0.59238	0.0:0.0:0.0:1.0	11.855	0.51708	628	0.65206	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1505.98	33	chr1	160947939	.	T	C	1505.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.24;DP=849;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.31;ReadPosRankSum=0.739;SOR=0.664	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1240	20	0	1	0
chr1	160951056	160951056	C	T	exonic	ITLN2	.	nonsynonymous SNV	ITLN2:NM_080878:exon4:c.G428A:p.S143N,	.	.	.	.	.	.	.	.	.	.	.	2355776	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.343	B	0.167	B	0.000	U	0.727	N	2.425	M	2.02	T	-1.086	T	0.037	T	0.103	0.984	9.018	3.94	2.159	1.388	13.825	0.079	0.0138581911057	0.0010	.	0.0006	9.61e-05	0.0003	0	0	0.0010	0	0	0.0006468	100	154602	rs147123034	0.0014	0.0014	0.0014	0.0013	0.0017	0.0013	0.0013	0.0016	0.0016	8.961e-05	0.0002	0	0	0.0003	0	0.0017	0.0011	0	0.0009	0.0009	0.0011	0.0008	0.0018	0.0008	0.0007	0.0016	0.0015	0.0003	0	0.0002	0	0	0	0	0.0018	0.0005	0	0.127	0.27080	T	0.162	0.31225	T	0.076	0.24253	B	0.049	0.25116	B	0.000005	0.62929	U	0.000000	0.72672	0.29869	N	2.12	0.58754	M	2.02	0.21119	T	-1.56	0.37759	N	0.314	0.35408	-1.0864	0.06155	T	0.037	0.16160	T	10	0.02404958	0.00649	T	0.013858	0.33577	T	0.079	0.23065	.	.	0.261217442401	0.25729	0.24266874881035477	0.24180	0.253798245579	0.27947	0.51683139801	0.41181	T	0.035435	0.23719	T	-0.557585	0.00262	T	-0.614242	0.11642	T	0.0459300362932537	0.04771	T	0.831917	0.49916	T	0.21740143	0.44222	0.18380553	0.41393	0.21740143	0.44222	0.18380553	0.41392	-6.106	0.47158	T	.	.	0.254	0.48827	B	.	.	1.865298	0.23694	16.12	0.97119082174794713	0.32447	0.19180	0.20559	N	AEFDGBI	0.179788	0.30708	N	-0.299820106616839	0.29156	1.614339	-0.338107943162816	0.26879	1.487622	0.999734210256563	0.42341	0.653281	0.48532	0	0.610034	0.51514	0	0.675528	0.61593	0	0.542086	0.14980	0	.	.	3.94	3.94	0.44807	1.409000	0.34288	1.456000	0.26643	0.465000	0.21702	0.038000	0.20882	0.011000	0.20116	0.012000	0.09680	0.0:1.0:0.0:0.0	13.825	0.62839	620	0.66037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2827.98	37	chr1	160951056	.	C	T	2827.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.390e-01;DP=3247;ExcessHet=0.0000;FS=3.462;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.94;MQRankSum=-1.073e+00;QD=10.96;ReadPosRankSum=-7.000e-01;SOR=0.913	GT:AD:DP:GQ:PL	0/0:212,0:212:99:0,120,1800	20	0	1	0
chr1	160952631	160952631	T	G	exonic	ITLN2	.	nonsynonymous SNV	ITLN2:NM_080878:exon3:c.A182C:p.H61P,	.	.	415	1075	29	3	0	35	0.0160183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.0	B	0.004	B	0.731	N	1.000	N	-0.65	N	-2.88	D	-0.785	T	0.174	T	0.064	-0.034	3.839	-7.9	-2.805	-6.326	10.375	0.246	.	0.0017	0.00878594	0.0060	0.0014	0.0018	0.0002	0	0.0014	0.0044	0.0360	0.0052845	817	154602	rs145457015	0.0031	0.0031	0.0022	0.0040	0.0349	0.0030	0.0030	0.0338	0.0334	0.0019	0.0020	0.0057	0.0001	0	0.0186	0.0007	0.0052	0.0349	0.0024	0.0024	0.0017	0.0031	0.0361	0.0022	0.0021	0.0317	0.0300	0.0014	0	0.0028	0.0058	0	0	0.0238	0.0009	0.0038	0.0361	0.369	0.11586	T	0.349	0.17531	T	0.0	0.02946	B	0.004	0.10090	B	0.730523	0.06367	N	1.289890	1	0.08975	N	-1.715	0.00343	N	-2.88	0.91533	D	0.42	0.03352	N	0.07	0.04307	-0.7854	0.55996	T	0.174	0.51737	T	10	0.00195539	0.00027	T	.	.	.	0.246	0.55340	.	.	0.306695030598	0.30287	0.6813713267727941	0.68076	0.233258079454	0.25858	0.266414523125	0.05678	T	6.36E-4	0.00271	T	-0.525994	0.00406	T	-0.50187	0.22155	T	0.0188330080294908	0.00594	T	0.0519948	0.00371	T	0.035705317	0.04255	0.05587002	0.09879	0.035705317	0.04254	0.05587002	0.09878	-2.982	0.09988	T	.	.	0.050	0.00139	B	.	.	-1.238282	0.00494	0.011	0.47869626452454483	0.03948	0.00173	0.01021	N	AEFDBI	0.017984	0.00511	N	-2.03473480934051	0.00178	0.007625525	-2.11489416869324	0.00173	0.007610659	0.999999976234191	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	3.95	-7.9	0.01035	-6.481000	0.00079	-14.247000	0.00413	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.1869:0.1496:0.6635	10.375	0.43262	616	0.66398	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1037.98	34	chr1	160952631	.	T	G	1037.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.886;DP=781;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.31;ReadPosRankSum=-4.520e-01;SOR=0.776	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1089	20	0	1	0
chr1	160999083	160999083	C	T	exonic	F11R	.	nonsynonymous SNV	F11R:NM_001348091:exon8:c.G677A:p.S226N	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.016	B	0.007	B	0.643	N	1.000	N	0	N	-1.65	D	-1.004	T	0.115	T	0.216	0.395	6.143	1.23	0.439	-0.077	4.470	0.208	0.0105157133251	0.0030	0.00219649	0.0008	0.0085	0.0003	0	0	2.999e-05	0	0	0.0007568	117	154602	rs145312674	0.0002	0.0002	0.0003	0.0002	0.0082	0.0002	0.0002	0.0074	0.0071	0.0082	0.0006	0	5.038e-05	0	0.0009	6.295e-06	0.0007	2.319e-05	0.0027	0.0027	0.0026	0.0029	0.0095	0.0025	0.0024	0.0087	0.0084	0.0095	0	0.0009	0	0	0	0.0034	1.47e-05	0.0024	0	0.735	0.07619	T	0.659	0.06533	T	0.004	0.12183	B	0.003	0.08700	B	0.643107	0.05879	N	1.183790	1	0.08975	N	1.155	0.29575	L	-1.65	0.82625	D	-0.27	0.15178	N	0.118	0.10769	-1.0038	0.28814	T	0.115	0.40897	T	10	0.0060163736	0.00135	T	0.010516	0.27152	T	0.208	0.49714	.	.	0.646026064043	0.64309	0.5225958851653266	0.52182	0.216351925438	0.24159	0.345127642155	0.17202	T	0.005515	0.33897	T	-0.422472	0.01650	T	-0.372095	0.36644	T	0.0013814213729192	0.00014	T	0.615039	0.23503	T	0.025929147	0.01587	0.034464434	0.02519	0.025929147	0.01586	0.034464434	0.02519	-5.094	0.39804	T	.	.	0.150	0.33133	B	.;.;.	.;.;.	0.668954	0.10374	7.100	0.91180470710222683	0.20435	0.04011	0.09439	N	AEFDGBI	0.057334	0.10672	N	-0.94138274125391	0.09887	0.4699816	-0.884479680841211	0.12461	0.6411166	0.933636174770498	0.27138	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.52	1.23	0.20358	0.022000	0.13402	-0.490000	0.08866	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.913000	0.44837	0.0:0.596:0.1801:0.2239	4.470	0.11126	549	0.72275	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1051.98	33	chr1	160999083	.	C	T	1051.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.82;DP=793;ExcessHet=0.0000;FS=0.940;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.41;ReadPosRankSum=0.630;SOR=0.941	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,100,1536	20	0	1	0
chr1	161048677	161048677	T	C	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon8:c.A1813G:p.K605E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.01	B	0.007	B	0.684	N	1.000	N	0.69	N	3.12	T	-1.013	T	0.021	T	0.141	0.698	7.727	3.48	1.732	0.199	8.591	0.058	0.00968596089578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	0	6.568e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	1.0	0.01155	T	0.01	0.15535	B	0.007	0.12992	B	0.683953	0.06107	N	1.182510	1	0.81001	D	0.895	0.22405	L	3.12	0.28836	T	0.2	0.05125	N	0.124	0.11626	-1.0128	0.26038	T	0.021	0.08778	T	10	0.043722987	0.03252	T	0.009686	0.25313	T	0.058	0.16647	0.091	0.01065	0.202312658747	0.19855	0.014156678512418705	0.01372	0.0360154973924	0.03802	0.275967478752	0.06937	T	0.009946	0.09021	T	-0.233146	0.16235	T	-0.572675	0.15206	T	0.0470577669313713	0.04976	T	0.765223	0.39255	T	0.11781541	0.27768	0.10422677	0.25027	0.11781541	0.27768	0.10422677	0.25027	-2.394	0.05096	T	.	.	0.082	0.26545	B	.;.	.;.	2.112512	0.26887	17.27	0.98187512282995548	0.39001	0.20001	0.20877	N	AEFDBCI	0.072340	0.14433	N	-0.661435640605215	0.17128	0.8787282	-0.569485133727487	0.20290	1.092522	0.99999956956163	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.590023	0.30420	0	0.567892	0.33627	0	.	.	4.63	3.48	0.38946	0.545000	0.22976	1.176000	0.24660	0.665000	0.62972	0.001000	0.13787	0.003000	0.18671	0.882000	0.42233	0.0:0.0965:0.0:0.9035	8.591	0.32847	531	0.73574	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2155.98	71	chr1	161048677	.	T	C	2155.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.394e+00;DP=1463;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.99;ReadPosRankSum=1.08;SOR=0.740	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1126	20	0	1	0
chr1	161048864	161048864	C	G	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon8:c.G1626C:p.K542N	.	.	371	1150	1	0	0	1	0.000434594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.0	B	0.001	B	0.168	N	1.000	N	0.14	N	3.07	T	-0.940	T	0.010	T	0.017	-0.308	2.533	2.21	0.223	-1.239	2.806	0.026	0.00594878585391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.237e-05	0.0009	1.505e-05	9.664e-06	2.999e-05	7.73e-06	6.38e-06	9.36e-06	7.65e-06	2.999e-05	0	0	0	0	0	1.537e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.06691	T	0.539	0.12037	T	0.0	0.02946	B	0.001	0.04355	B	0.167583	0.17472	N	0.469196	1	0.19238	N	0.55	0.14455	N	3.07	0.30133	T	0.59	0.02558	N	0.032	0.00825	-0.9399	0.42632	T	0.010	0.03673	T	10	0.032844096	0.01445	T	0.005949	0.15520	T	0.026	0.05648	0.085	0.00830	0.082315109003	0.07666	0.020223521516263606	0.01975	0.0321919343221	0.03346	0.227677255869	0.01800	T	0.007284	0.06695	T	-0.397532	0.02403	T	-0.808803	0.01692	T	0.0349868424236774	0.02805	T	0.608539	0.22995	T	0.041750744	0.06205	0.033273403	0.02195	0.041750744	0.06205	0.033273403	0.02195	-4.588	0.32020	T	.	.	0.104	0.29560	B	.;.	.;.	0.272084	0.06499	2.975	0.87093396735068451	0.16984	0.17351	0.19799	N	AEFDBCI	0.077101	0.15528	N	-1.02014869570935	0.08186	0.382952	-0.959379613406779	0.10706	0.5409345	0.999970802198825	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.590023	0.30420	0	0.567892	0.33627	0	.	.	4.64	2.21	0.27042	0.214000	0.17331	0.493000	0.18920	0.587000	0.30956	0.000000	0.06391	0.004000	0.18990	0.038000	0.14061	0.2667:0.4814:0.1544:0.0974	2.806	0.05095	531	0.73574	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	5512.66	190	chr1	161048864	.	C	G	5512.66	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-5.721e+00;DP=4354;ExcessHet=20.9642;FS=217.040;InbreedingCoeff=-0.6084;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=1.61;ReadPosRankSum=1.77;SOR=13.867	GT:AD:DP:GQ:PL	0/1:153,74:227:99:532,0,2932	5	0	16	0
chr1	161124409	161124409	C	G	exonic	DEDD	.	nonsynonymous SNV	DEDD:NM_001039711:exon2:c.G54C:p.E18D	.	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.0	B	0.001	B	0.000	D	1.000	N	-1.39	N	.	.	-0.944	T	0.007	T	0.102	0.168	4.904	2.2	0.756	0.574	4.866	0.168	0.00576375650122	.	0.000599042	0.0003	0	0	0	0	0	0	0.0022	0.0002458	38	154602	rs551657580	0.0001	0.0001	5.449e-05	0.0002	0.0018	9.884e-05	9.293e-05	0.0016	0.0015	2.988e-05	0	0	0	0	0	0	9.946e-05	0.0018	9.189e-05	9.186e-05	3.853e-05	0.0001	0.0029	5.522e-05	4.36e-05	0.0018	0.0014	0	0	0	0	0	0	0	0	0	0.0029	0.499	0.07870	T	0.575	0.09267	T	0.0	0.02946	B	0.0	0.04355	B	0.000000	0.84330	D	0.046195	0.752883	0.81001	N	-1.01	0.01154	N	.	.	.	-0.33	0.16187	N	0.118	0.11912	-0.9444	0.41911	T	0.007	0.02598	T	9	0.0052165687	0.00113	T	0.005764	0.14952	T	0.168	0.42943	0.073	0.00466	0.456980322645	0.45321	0.13628228835923714	0.13552	0.716779075615	0.62015	0.548488736153	0.45645	T	0.093235	0.39170	T	-0.591251	0.00165	T	-0.628234	0.10550	T	0.0405337411745459	0.03787	T	0.782222	0.41780	T	0.05425778	0.10385	0.058419317	0.10790	0.05425778	0.10385	0.058419317	0.10790	-3.289	0.13596	T	.	.	0.072	0.19518	B	.;.;.;.;.;.	.;.;.;.;.;.	1.961478	0.24913	16.57	0.92474154875596348	0.21904	0.83014	0.42169	D	AEFDBCI	0.302362	0.41063	N	-0.908595912057514	0.10640	0.5094226	-0.686129877944826	0.17308	0.9196992	0.998803155963326	0.37711	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.13	2.2	0.26966	0.246000	0.17935	-0.190000	0.11047	-0.187000	0.09635	0.992000	0.37556	0.265000	0.24010	0.978000	0.57271	0.0:0.5818:0.1564:0.2618	4.866	0.12967	281	0.88893	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2381.98	49	chr1	161124409	.	C	G	2381.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.854e+00;DP=867;ExcessHet=0.0000;FS=1.466;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.21;ReadPosRankSum=-1.500e-02;SOR=0.516	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1275	20	0	1	0
chr1	161160954	161160954	G	T	exonic	USP21	.	nonsynonymous SNV	USP21:NM_001319847:exon2:c.G401T:p.R134L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.789	P	0.17	B	0.768	N	0.855	D	0.345	N	0.92	T	-1.014	T	0.041	T	0.905	2.762	15.20	5.14	2.666	4.050	17.538	0.135	0.0055180553161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.789	0.44570	P	0.17	0.35299	B	0.768478	0.09566	N	0.855782	0.855411	0.35294	D	0.345	0.11182	N	0.92	0.44461	T	-0.99	0.26200	N	0.776	0.77319	-1.0145	0.25497	T	0.041	0.17827	T	10	0.23797894	0.40910	T	0.005518	0.14227	T	0.135	0.36572	0.257	0.19845	0.606161550005	0.60300	0.3236029498988008	0.32273	0.134947152804	0.15209	0.669573485851	0.62778	T	0.013005	0.33645	T	0.185623	0.72560	D	0.0288587	0.72203	D	0.339686769744436	0.26611	T	0.824018	0.48536	T	0.30283454	0.53157	0.27275297	0.53188	0.30283454	0.53157	0.27275297	0.53187	-6.588	0.51546	T	.	.	0.245	0.62440	B	.;.;.;.;.	.;.;.;.;.	4.074147	0.60556	24.2	0.99695368283428076	0.80248	0.92530	0.55928	D	AEFDBI	0.558452	0.56767	D	0.130962780523355	0.47911	3.010327	0.233296311175239	0.51704	3.350701	0.999999999807534	0.74766	0.634777	0.41761	0	0.606735	0.50208	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.14	5.14	0.70008	2.384000	0.44017	10.015000	0.83111	0.676000	0.76740	0.993000	0.37899	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	17.538	0.87736	300	0.87974	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2658.98	35	chr1	161160954	.	G	T	2658.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.540e-01;DP=938;ExcessHet=0.0000;FS=0.500;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.48;ReadPosRankSum=-2.050e-01;SOR=0.744	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1198	20	0	1	0
chr1	161172330	161172330	C	T	exonic	B4GALT3	.	nonsynonymous SNV	B4GALT3:NM_001199873:exon7:c.G805A:p.V269M	.	.	.	.	.	.	.	.	.	0.9908	0.884	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.994	D	0.000	D	1.000	D	1.735	L	-1.63	D	0.313	D	0.619	D	0.779	3.898	19.82	4.99	2.595	3.669	17.206	0.699	0.121521512303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.003	0.76473	D	0.998	0.73220	D	0.994	0.82059	D	0.000027	0.55875	D	0.120739	1	0.81001	D	2.64	0.77224	M	-1.63	0.82440	D	-1.78	0.42001	N	0.555	0.58031	0.313	0.87764	D	0.619	0.86564	D	10	0.8246204	0.81647	D	0.121522	0.80231	D	0.699	0.89145	0.759	0.88811	0.899753305895	0.89876	0.8299086514954118	0.82949	1.2000544037	0.80508	0.77073007822	0.77534	T	0.506343	0.82457	D	0.243399	0.77981	D	0.11185	0.77694	D	0.933395317253103	0.60012	D	0.957038	0.83775	D	0.27922884	0.50974	0.34283784	0.60004	0.27922884	0.50974	0.34283784	0.60003	-8.09	0.61682	D	.	.	0.803	0.77423	P	.;.;.	.;.;.	5.340452	0.89608	31	0.99877126817793194	0.95410	0.92697	0.56325	D	AEFBCI	0.705980	0.66119	D	0.640097851758073	0.75728	6.357792	0.617262416584408	0.76193	6.446121	0.999999999991332	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.99	4.99	0.65942	3.157000	0.50414	7.713000	0.66906	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	17.206	0.86800	311	0.87433	Galactosyltransferase, C-terminal;Galactosyltransferase, C-terminal;Galactosyltransferase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	891.98	37	chr1	161172330	.	C	T	891.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.621;DP=764;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.49;ReadPosRankSum=-1.360e-01;SOR=0.804	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1293	20	0	1	0
chr1	161193649	161193649	T	C	exonic	ADAMTS4	.	nonsynonymous SNV	ADAMTS4:NM_001320336:exon6:c.A1726G:p.T576A	.	.	433	1057	31	1	0	33	0.0153703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.0	B	0.0	B	0.879	N	1.000	N	-0.205	N	3.94	T	-0.902	T	0.001	T	0.048	1.745	11.79	-6.79	-1.388	-0.910	1.484	0.014	.	0.0022	0.00339457	0.0048	0.0009	0.0002	0.0003	0.0124	0.0026	0.0059	0.0212	0.0041979	649	154602	rs150093855	0.0036	0.0036	0.0031	0.0041	0.0182	0.0035	0.0035	0.0174	0.0171	0.0006	0.0006	0.0063	0.0003	0.0105	0.0132	0.0024	0.0032	0.0182	0.0031	0.0031	0.0024	0.0037	0.0158	0.0028	0.0028	0.0129	0.0119	0.0006	0	0.0007	0.0072	0	0.0148	0.0136	0.0025	0.0014	0.0158	0.591	0.05790	T	0.739	0.05000	T	0.0	0.02946	B	0.0	0.01387	B	0.879494	0.07226	N	1.062690	1	0.08975	N	0.345	0.11182	N	3.94	0.03408	T	-0.81	0.22294	N	0.081	0.05670	-0.9016	0.47824	T	0.001	0.00378	T	10	0.002042383	0.00029	T	.	.	.	0.014	0.01968	.	.	0.178374595973	0.17440	0.29998361522319555	0.29911	0.283771534301	0.30815	0.270557552576	0.06214	T	0.074334	0.34913	T	-0.715835	0.00029	T	-0.786744	0.02255	T	0.00203504934561094	0.00021	T	0.0319468	0.00204	T	0.048147403	0.08347	0.026641525	0.00765	0.048147403	0.08346	0.026641525	0.00765	-2.063	0.03428	T	.	.	0.053	0.00259	B	.	.	-0.275275	0.02728	0.361	0.71634526295675038	0.09696	0.03210	0.08210	N	AEFBI	0.056460	0.10439	N	-1.54427296036643	0.01568	0.06852442	-1.53708658106933	0.02066	0.09447606	0.999999090882851	0.74766	0.722319	0.85440	0	0.547309	0.14657	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	4.96	-6.79	0.01554	-0.147000	0.10218	-3.564000	0.02692	-0.119000	0.14319	0.000000	0.06391	0.000000	0.08366	0.906000	0.44173	0.1928:0.36:0.2041:0.2431	1.484	0.02295	428	0.80967	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1085.98	67	chr1	161193649	.	T	C	1085.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=1366;ExcessHet=0.0000;FS=5.957;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.10;ReadPosRankSum=-7.850e-01;SOR=1.220	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1079	20	0	1	0
chr1	161222980	161222980	-	ACGGT	exonic	APOA2	.	stopgain	APOA2:NM_001643:exon3:c.122_123insACCGT:p.T42Pfs*2,	Apolipoprotein A-II deficiency (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.647e-05	0	0	0	0	2.997e-05	0	0	3.84e-05	1	26028	rs751969683	6.84e-06	6.84e-06	9.528e-06	4.125e-06	8.093e-06	3.46e-06	2.52e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.093e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1229.94	34	chr1	161222980	.	C	CACGGT	1229.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.545;DP=763;ExcessHet=0.0000;FS=3.385;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.92;ReadPosRankSum=1.51;SOR=1.076	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1235	20	0	1	0
chr1	161236550	161236550	C	A	exonic	NR1I3	.	nonsynonymous SNV	NR1I3:NM_001077469:exon2:c.G16T:p.D6Y	.	.	.	.	.	.	.	.	.	.	.	2273832	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.942	D	0.561	N	0.810	D	1.335	L	-2.42	D	0.055	D	0.792	D	0.517	4.727	26.3	5.44	2.837	4.419	10.064	0.388	0.0442088099063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.78490	D	0.011	0.83351	D	0.922	0.73220	P	0.761	0.67772	P	0.561494	0.05427	N	1.235040	0.958824	0.81001	D	2.565	0.75005	M	-2.94	0.93170	D	-2.98	0.73151	D	0.31	0.42737	0.055	0.83344	D	0.792	0.92959	D	9	0.3500631	0.51886	T	0.044209	0.61373	D	0.388	0.70440	0.363	0.36874	0.987563693951	0.98742	0.6184152800313694	0.61774	0.775301353887	0.64992	0.437749475241	0.30270	T	0.062065	0.70783	T	0.164879	0.70651	D	-0.000939313	0.70275	D	0.964979350566864	0.67123	D	0.888311	0.62511	D	0.14651692	0.33536	0.21785256	0.46466	0.14651692	0.33536	0.21785256	0.46465	-8.111	0.63109	D	.	.	0.111	0.31431	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	4.088298	0.60867	24.3	0.99370149571303712	0.61411	0.84515	0.43597	D	AEFDHCI	0.830156	0.74893	D	0.482430171997443	0.66066	4.902088	0.45869499666338	0.65277	4.803554	0.999999949106699	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.44	5.44	0.79348	4.741000	0.61790	0.958000	0.22971	0.581000	0.30040	0.993000	0.37899	0.002000	0.18203	0.561000	0.30436	0.0:0.9115:0.0:0.0885	10.064	0.41463	708	0.56926	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1972.98	35	chr1	161236550	.	C	A	1972.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.507e+00;DP=907;ExcessHet=0.0000;FS=4.104;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.02;ReadPosRankSum=1.80;SOR=0.501	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1271	20	0	1	0
chr1	161362413	161362413	A	T	exonic	SDHC	.	nonsynonymous SNV	SDHC:NM_001035513:exon4:c.A331T:p.M111L	Gastrointestinal stromal tumor, Autosomal dominant, Isolated cases;Paraganglioma and gastric stromal sarcoma;Paragangliomas 3, Autosomal dominant	.	0	1477	45	0	0	45	0.015005	.	.	181603	Malignant_tumor_of_breast|not_specified|not_provided|Gastrointestinal_stromal_tumor|Paragangliomas_3|Ovarian_cancer|Hereditary_pheochromocytoma-paraganglioma|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0007254,MedGen:C0006142|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373,Orphanet:29072|MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500|MONDO:MONDO:0017366,MedGen:C1708353,Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.78	T	0.0	B	0.0	B	0.734	N	.	.	.	.	-3.43	D	-0.432	T	0.619	D	0.113	-0.590	1.356	-4.71	-0.842	-0.304	9.476	0.250	0.0570150424314	.	0.000599042	0.0006	0	0.0003	0	0	0.0002	0.0012	0.0032	2.59e-05	4	154602	rs200375156	0.0003	0.0003	0.0002	0.0005	0.0040	0.0003	0.0003	0.0036	0.0035	2.988e-05	0.0002	0	0	0	0.0035	7.556e-05	0.0006	0.0040	0.0002	0.0002	7.774e-05	0.0003	0.0044	0.0001	0.0001	0.0029	0.0025	0	0	0.0001	0	0	0	0	7.371e-05	0	0.0044	0.163	0.23450	T	0.513	0.10714	T	0.0	0.02946	B	0.0	0.01387	B	0.733946	0.09831	N	0.880348	1	0.08975	N	.	.	.	-3.43	0.94388	D	0.25	0.04456	N	0.07	0.25006	-0.4316	0.71014	T	0.619	0.86580	D	8	0.013089299	0.00279	T	0.057015	0.66813	D	0.250	0.55888	0.476	0.55342	0.583677480531	0.58040	0.3585962639238585	0.35773	1.79880672876	0.91610	0.245953053236	0.03353	T	0.091916	0.38896	T	-0.362043	0.04016	T	-0.295247	0.45225	T	0.0138114803380374	0.00261	T	0.039596	0.00274	T	0.05469047	0.10526	0.07093414	0.15130	0.041325785	0.06066	0.04859368	0.07250	1.203	0.00232	T	0.03272251798696227	0.00128	0.081	0.10256	B	.;.;.	.;.;.	-0.585972	0.01610	0.110	0.57946038623444585	0.05882	0.04530	0.10162	N	AEFGBI	0.252733	0.37236	N	-1.45194162059434	0.02201	0.09694486	-1.51548168205956	0.02225	0.1019991	0.110365338529712	0.16631	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.27	-4.71	0.03042	-0.094000	0.11060	-0.665000	0.07962	-1.618000	0.00872	0.001000	0.13787	0.000000	0.08366	0.278000	0.23967	0.1931:0.3704:0.4365:0.0	9.476	0.38037	746	0.52331	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.04762	2001.11	43	chr1	161362413	.	A	T	2001.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.20;DP=966;ExcessHet=0.1072;FS=1.716;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=48.48;MQRankSum=1.35;QD=9.01;ReadPosRankSum=0.598;SOR=0.824	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	19	0	2	0
chr1	161589676	161589676	C	A	exonic	FCGR2C	.	unknown	UNKNOWN,	Thrombocytopenic purpura, autoimmune, Autosomal dominant	.	73	1436	8	4	1	17	0.00554017	.	.	2378904	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	.	0.0009	0.0006	0.0003	0.0008	0	0.0010	0.0011	0.0017	0.0036545	565	154602	rs111603147	0.0026	0.0059	0.0025	0.0027	0.0063	0.0025	0.0025	0.0047	0.0041	0.0015	0.0016	0.0070	0.0008	0.0004	0.0063	0.0027	0.0038	0.0023	0.0041	0.0075	0.0044	0.0038	0.0069	0.0038	0.0037	0.0052	0.0050	0.0015	0.0011	0.0050	0.0109	0.0012	0.0002	0.0180	0.0057	0.0072	0.0069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	.	.	.	.	.	.	0.148	0.15046	.	.	.	.	.	.	.	0.018492132	0.00403	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	.	.	.	.	.	.	.	.	.	.	-0.417505	0.01775	T	-0.363098	0.37692	T	.	.	.	0.0449955	0.00529	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00573	B	.;.	.;.	-1.868752	0.00135	0.002	0.77607354438358023	0.11947	0.00503	0.02366	N	AEFDBHCI	0.024735	0.01579	N	.	.	.	.	.	.	0.773651678474831	0.23715	0.074636	0.01641	0	0.084543	0.02171	0	0.03606	0.00165	1	0.074188	0.01825	0	.	.	3.29	-2.25	0.06498	-0.608000	0.05737	-4.495000	0.02127	-1.602000	0.00892	0.000000	0.06391	0.000000	0.08366	0.060000	0.15972	0.3164:0.3218:0.2051:0.1567	0.857	0.01110	878	0.29785	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	207.98	187	chr1	161589676	.	C	A	207.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=7.26;DP=2183;ExcessHet=0.0000;FS=71.847;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=52.93;MQRankSum=-8.550e+00;QD=0.90;ReadPosRankSum=-4.880e-01;SOR=6.593	GT:AD:DP:GQ:PL	0/1:205,26:231:99:222,0,5436	20	0	1	0
chr1	161599669	161599669	C	A	exonic	FCGR2C	.	unknown	UNKNOWN,	Thrombocytopenic purpura, autoimmune, Autosomal dominant	.	7	1500	14	1	0	16	0.00530504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0014	0.0002	0.0003	0	0.0009	0.0002	0.0034	0.0089	0.0011319	175	154602	rs578124126	0.0006	0.0006	0.0003	0.0008	0.0078	0.0006	0.0005	0.0073	0.0071	3.024e-05	6.738e-05	0	2.526e-05	0.0007	0.0016	9.74e-05	0.0005	0.0078	0.0003	0.0003	0.0001	0.0004	0.0036	0.0002	0.0002	0.0022	0.0018	0	0	0	0	0	0.0004	0	0.0002	0.0005	0.0036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.223	0.25006	.	.	.	.	.	.	.	0.005688578	0.00126	T	.	.	.	.	.	.	.	0.0716867268079	0.06686	.	.	.	.	.	.	.	.	.	.	-0.236282	0.15827	T	-0.297744	0.44962	T	.	.	.	0.190281	0.02027	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.09239	B	.	.	0.268475	0.06464	2.938	0.86187052259973818	0.16370	0.00400	0.02002	N	AEFI	0.062880	0.12117	N	.	.	.	.	.	.	3.93636508570598E-5	0.03775	0.262962	0.04601	0	0.304816	0.05638	0	0.083675	0.02720	0	0.058706	0.01089	0	.	.	0.41	0.41	0.15605	0.561000	0.23220	-0.434000	0.09203	0.276000	0.18584	0.018000	0.19461	0.001000	0.17328	0.006000	0.07323	.	.	.	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1010.98	34	chr1	161599669	.	C	A	1010.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.56;DP=866;ExcessHet=0.0000;FS=3.425;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=37.87;MQRankSum=1.23;QD=10.87;ReadPosRankSum=-9.350e-01;SOR=1.187	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr1	161599670	161599670	C	T	exonic	FCGR2C	.	unknown	UNKNOWN,	Thrombocytopenic purpura, autoimmune, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002329	36	154602	rs867055986	1.853e-05	3.63e-05	2.185e-05	1.518e-05	0.0004	1.269e-05	1.088e-05	6.149e-05	3.965e-05	0	0.0001	0	0	0	0.0004	1.623e-05	0	1.167e-05	3.534e-05	5.299e-05	4.114e-05	2.918e-05	7.265e-05	1.334e-05	8.51e-06	1.215e-05	6.37e-06	2.708e-05	0	7.265e-05	0	0	0	0	4.577e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.041	0.01421	.	.	.	.	.	.	.	0.079868704	0.12898	T	.	.	.	.	.	.	.	0.0482279557977	0.04254	.	.	.	.	.	.	.	.	.	.	-0.0334465	0.46913	T	-0.28582	0.46205	T	.	.	.	0.568443	0.20183	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.08368	B	.	.	-0.138058	0.03420	0.623	0.79083217762414237	0.12583	0.00016	0.00195	N	AEFI	0.028309	0.02470	N	.	.	.	.	.	.	2.43240643371598E-4	0.06141	0.262962	0.04601	0	0.304816	0.05638	0	0.083675	0.02720	0	0.058706	0.01089	0	.	.	0.41	-0.82	0.10280	-2.061000	0.01478	-1.350000	0.05649	-2.483000	0.00269	0.010000	0.18352	0.000000	0.08366	0.003000	0.05239	.	.	.	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	362.98	34	chr1	161599670	.	C	T	362.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.81;DP=837;ExcessHet=0.0000;FS=2.842;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=33.34;MQRankSum=-6.360e-01;QD=5.85;ReadPosRankSum=2.30;SOR=1.262	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr1	161673197	161673197	A	T	exonic	FCGR2B	.	nonsynonymous SNV	FCGR2B:NM_001190828:exon3:c.A593T:p.Y198F	.	.	2	1494	26	0	0	26	0.00862641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.001	B	0.004	B	0.000	N	1.000	N	0.85	L	2.72	T	-0.984	T	0.008	T	0.136	0.845	8.416	1.16	0.252	1.222	3.189	0.075	0.00251788598761	0.0008	.	0.0018	0.0024	0.0017	0.0057	0	0.0006	0.0058	0.0046	0.0011142	29	26028	rs1050499	0.0017	0.0023	0.0016	0.0018	0.0104	0.0016	0.0016	0.0095	0.0092	0.0048	0.0070	0.0001	0.0104	0.0002	0.0044	0.0008	0.0028	0.0054	0.0045	0.0053	0.0039	0.0051	0.0172	0.0042	0.0041	0.0155	0.0148	0.0058	0	0.0172	0.0003	0.0137	0	0	0.0012	0.0024	0.0062	0.3	0.17296	T	0.283	0.22694	T	0.001	0.07471	B	0.004	0.10090	B	0.000000	0.00162	N	13.126700	1	0.08975	N	1.355	0.33814	L	2.72	0.11947	T	-1.82	0.43524	N	0.146	0.14763	-0.9836	0.34164	T	0.008	0.02926	T	10	0.0054632127	0.00120	T	0.002518	0.05037	T	0.075	0.21907	.	.	0.0716867268079	0.06686	0.16808388972673394	0.16728	0.691813054051	0.60620	0.2851331532	0.08218	T	0.092434	0.39004	T	-0.631686	0.00093	T	-0.676144	0.07221	T	0.00692981606698224	0.00079	T	0.116288	0.00889	T	0.43786907	0.63264	0.11826913	0.28548	0.43786907	0.63265	0.11826913	0.28548	-9.702	0.72145	D	.	.	0.113	0.22282	B	.;.;.	.;.;.	0.418974	0.07896	4.600	0.55985155277803345	0.05457	0.06779	0.12802	N	AEFBI	0.149826	0.27400	N	-1.13690989630661	0.05998	0.2749676	-1.13985614502239	0.06951	0.3363837	1.36716774895723E-5	0.02871	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.02	1.16	0.19936	0.894000	0.27983	0.292000	0.16883	-0.070000	0.16343	0.000000	0.06391	0.000000	0.08366	0.041000	0.14368	0.6339:0.0:0.1931:0.173	3.189	0.06216	845	0.36510	.;.;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2146.98	42	chr1	161673197	.	A	T	2146.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.283;DP=908;ExcessHet=0.0000;FS=3.992;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.82;MQRankSum=3.09;QD=19.17;ReadPosRankSum=0.439;SOR=0.807	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1253	20	0	1	0
chr1	161958601	161958601	G	T	exonic	ATF6	.	nonsynonymous SNV	ATF6:NM_007348:exon16:c.G1960T:p.A654S,	Achromatopsia 7, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.009	B	0.014	B	0.005	N	0.998	N	-0.55	N	2.51	T	-0.925	T	0.003	T	0.124	-0.263	2.735	2.12	0.530	0.466	4.046	0.021	0.00297079685925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.552	0.06543	T	0.882	0.03205	T	0.009	0.15093	B	0.014	0.16862	B	0.004977	0.33218	N	0.286440	0.994787	0.23443	N	0	0.06538	N	2.51	0.14284	T	-0.05	0.07736	N	0.03	0.00717	-0.9246	0.44915	T	0.003	0.01059	T	9	0.03285855	0.01447	T	0.002971	0.06339	T	0.021	0.04004	0.12	0.02719	0.290590437066	0.28656	0.3526803789998004	0.35182	0.130674028925	0.14740	0.310588359833	0.11996	T	0.049829	0.28419	T	-0.316625	0.07178	T	-0.692587	0.06240	T	0.0821569338440895	0.10261	T	0.726827	0.34112	T	0.029277306	0.02396	0.035802227	0.02901	0.029277306	0.02395	0.035802227	0.02901	-3.074	0.11000	T	0.1119146244995682	0.09625	0.079	0.07365	B	.	.	0.526078	0.08949	5.729	0.7824991890908648	0.12220	0.49067	0.28349	N	ALL	0.317734	0.42164	N	-0.750709283477943	0.14614	0.7294479	-0.559120508678914	0.20563	1.10849	0.999999993014799	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.09	2.12	0.26372	0.814000	0.26897	0.256000	0.16486	0.676000	0.76740	0.002000	0.15269	0.000000	0.08366	0.455000	0.28006	0.2783:0.0:0.5597:0.162	4.046	0.09254	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1261.98	38	chr1	161958601	.	G	T	1261.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.300;DP=942;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.47;ReadPosRankSum=-3.090e+00;SOR=0.658	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	20	0	1	0
chr1	162374071	162374071	C	T	exonic	SPATA46	.	nonsynonymous SNV	SPATA46:NM_182581:exon3:c.G763A:p.G255S,	.	.	430	1065	27	0	0	27	0.0125174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.013	B	0.002	B	0.001	N	0.999	N	0	N	1.53	T	-1.034	T	0.018	T	0.055	-0.751	0.813	3.03	0.461	-0.105	7.747	0.062	.	0.0011	0.00399361	0.0047	9.829e-05	0.0014	0.0002	0.0003	0.0023	0.0082	0.0290	0.0039262	607	154602	rs142892903	0.0026	0.0026	0.0018	0.0034	0.0231	0.0026	0.0025	0.0222	0.0219	0.0001	0.0012	0.0186	2.523e-05	0.0001	0.0152	0.0009	0.0041	0.0231	0.0018	0.0018	0.0015	0.0020	0.0170	0.0016	0.0015	0.0140	0.0129	0.0002	0	0.0017	0.0196	0	0	0.0170	0.0011	0.0038	0.0170	0.0	0.91255	D	0.829	0.03728	T	0.013	0.16609	B	0.002	0.06944	B	0.000687	0.00666	N	22.652400	1	0.08975	N	.	.	.	1.53	0.30401	T	0.53	0.02808	N	0.077	0.05162	-1.0336	0.19300	T	0.018	0.07518	T	9	0.0026496649	0.00041	T	.	.	.	0.062	0.17934	.	.	0.0806252709748	0.07271	0.10077974902179522	0.10008	0.0254765122315	0.02602	.	.	.	0.00414	0.03552	T	-0.682564	0.00046	T	-0.734979	0.04105	T	0.0328674922105393	0.02448	T	0.330567	0.06924	T	0.06320382	0.13284	0.099307574	0.23706	0.06320382	0.13284	0.099307574	0.23705	-2.764	0.07856	T	.	.	0.078	0.06803	B	.	.	0.163990	0.05541	2.000	0.44099521468355862	0.03366	0.02574	0.07120	N	ALL	0.112465	0.22229	N	-1.13096102416399	0.06099	0.2798527	-1.09724414263715	0.07754	0.3784419	1.0	0.98316	0.486886	0.10167	0	0.586423	0.34054	0	0.315538	0.05692	2	0.562822	0.20929	0	.	.	4.95	3.03	0.34070	0.087000	0.14801	-0.034000	0.12756	-0.479000	0.05073	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7476:0.1629:0.0895	7.747	0.28043	861	0.33516	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	767.98	49	chr1	162374071	.	C	T	767.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.17;DP=888;ExcessHet=0.0000;FS=11.165;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.08;ReadPosRankSum=-1.253e+00;SOR=1.668	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1141	20	0	1	0
chr1	162374586	162374586	T	C	exonic	SPATA46	.	nonsynonymous SNV	SPATA46:NM_182581:exon3:c.A248G:p.E83G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.033	B	0.046	B	0.013	N	0.947	N	1.67	L	1.35	T	-1.082	T	0.035	T	0.179	0.681	7.644	2.68	0.744	2.148	6.926	0.022	0.00665442542917	.	.	1.658e-05	0	0	0	0	0	0.0011	6.197e-05	1.29e-05	2	154602	rs745670990	9.581e-06	9.577e-06	4.085e-06	1.513e-05	0.0005	5.56e-06	4.35e-06	0.0001	7.541e-05	0	0	0	0	0	0.0005	0	6.627e-05	8.128e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.249	0.23776	T	0.033	0.20350	B	0.046	0.24676	B	0.012677	0.29095	N	0.292842	0.999272	0.21423	N	.	.	.	1.35	0.34648	T	-1.6	0.38540	N	0.141	0.14054	-1.0817	0.07022	T	0.035	0.14987	T	9	0.10187474	0.18640	T	0.006654	0.17557	T	0.022	0.04323	0.201	0.11522	0.436348499334	0.43257	0.47938346693118805	0.47858	0.0382343898037	0.04063	.	.	.	0.039862	0.25335	T	-0.251236	0.13946	T	-0.49803	0.22553	T	0.0975551307201385	0.12085	T	0.387861	0.09571	T	0.072308995	0.16077	0.13289218	0.31880	0.072308995	0.16076	0.13289218	0.31879	-3.772	0.20387	T	.	.	0.110	0.21125	B	.	.	2.279999	0.29155	18.03	0.97295009967985147	0.33252	0.80975	0.40480	D	AEFDGBI	0.132606	0.25197	N	-0.519519885011917	0.21449	1.138398	-0.440302686928663	0.23824	1.30131	0.999995639887782	0.74766	0.421363	0.06395	0	0.563428	0.19063	0	0.536957	0.11973	0	0.613276	0.41899	0	.	.	4.98	2.68	0.30839	2.157000	0.41946	1.573000	0.27428	-0.108000	0.15293	0.991000	0.37257	0.511000	0.25257	0.167000	0.20881	0.0:0.1843:0.0:0.8157	6.926	0.23596	867	0.32089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2267.98	103	chr1	162374586	.	T	C	2267.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.180e+00;DP=2173;ExcessHet=0.0000;FS=1.292;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.82;ReadPosRankSum=0.842;SOR=0.818	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1141	20	0	1	0
chr1	162859559	162859559	G	A	exonic	CCDC190	.	stopgain	CCDC190:NM_178550:exon2:c.C88T:p.Q30X,	.	.	415	1103	4	0	0	4	0.00180995	.	.	576077	not_provided	MedGen:CN517202	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0.14	T	.	.	.	.	0.273	N	1.000	A	.	.	.	.	.	.	.	.	.	4.913	28.4	4.4	2.268	2.886	12.360	.	.	.	.	0.0003	0	8.853e-05	0	0	7.601e-05	0.0011	0.0018	0.0002264	35	154602	rs756079140	0.0001	0.0001	7.352e-05	0.0002	0.0016	0.0001	0.0001	0.0013	0.0013	0	0.0002	0.0002	0	0	0.0009	1.979e-05	0.0002	0.0016	0.0001	0.0001	0.0001	0.0001	0.0015	7.573e-05	6.279e-05	0.0007	0.0005	0	0	0.0003	0.0003	0	0	0	8.82e-05	0	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	0.272572	0.15099	N	0.563022	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.226	0.28264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16526	0.70687	D	0.439981	0.93322	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive	.;.;High	7.168220	0.96222	35	0.99853049471724054	0.93191	0.56617	0.30163	D	AEFBI	0.052900	0.09485	N	0.782306337493542	0.84988	8.443946	0.548690590538521	0.71304	5.634792	0.999987175775462	0.51787	0.446893	0.09132	0	0.563428	0.19063	0	0.315538	0.05692	2	0.656636	0.63459	0	.	.	4.4	4.4	0.52402	2.911000	0.48472	7.204000	0.57805	0.674000	0.70861	0.801000	0.29734	1.000000	0.68203	0.696000	0.34018	0.0:0.0:1.0:0.0	12.360	0.54526	899	0.25060	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	967.98	107	chr1	162859559	.	G	A	967.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=796;ExcessHet=0.0000;FS=6.346;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.05;ReadPosRankSum=0.394;SOR=1.364	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1198	20	0	1	0
chr1	163338056	163338056	G	A	exonic	NUF2	.	nonsynonymous SNV	NUF2:NM_031423:exon7:c.G472A:p.A158T	.	.	435	1077	10	0	0	10	0.00462107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.11	B	0.002	B	0.021	N	0.732	N	0.665	N	1.49	T	-1.038	T	0.019	T	0.196	1.569	11.20	4.36	1.452	5.239	9.658	0.056	.	0.0056	0.00399361	0.0062	0.0013	0.0060	0.0003	0.0086	0.0086	0.0077	0.0018	0.0064229	993	154602	rs61747498	0.0076	0.0077	0.0079	0.0074	0.0144	0.0075	0.0075	0.0119	0.0110	0.0019	0.0074	0.0131	5.043e-05	0.0095	0.0144	0.0083	0.0089	0.0011	0.0068	0.0068	0.0070	0.0066	0.0091	0.0065	0.0063	0.0084	0.0081	0.0021	0	0.0091	0.0147	0.0002	0.0097	0.0308	0.0090	0.0128	0.0023	0.271	0.16574	T	0.196	0.27943	T	0.11	0.26188	B	0.002	0.06944	B	0.020652	0.26995	N	0.426890	0.950196	0.27882	N	1.295	0.32453	L	1.49	0.31470	T	-0.9	0.27052	N	0.473	0.51048	-1.0381	0.17893	T	0.019	0.07986	T	9	0.004669547	0.00098	T	.	.	.	0.056	0.15993	.	.	0.280987212366	0.27714	0.2285310054703231	0.22768	0.34996909367	0.36845	0.480750083923	0.36160	T	0.024178	0.18318	T	-0.527462	0.00398	T	-0.522477	0.20045	T	0.0253086485168266	0.01314	T	0.679032	0.29402	T	0.06431574	0.13634	0.060588412	0.11563	0.06431574	0.13634	0.060588412	0.11562	-4.31	0.28316	T	.	.	0.082	0.08899	B	.;.;.;.	.;.;.;.	2.834242	0.37373	20.5	0.92248390203346031	0.21627	0.90639	0.51982	D	AEFBI	0.372158	0.45790	N	-0.458680679781133	0.23447	1.259166	-0.312659966136449	0.27690	1.538263	0.824947325072669	0.24590	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.27	4.36	0.51643	5.643000	0.67569	6.504000	0.55790	-0.188000	0.09543	0.994000	0.38300	1.000000	0.68203	0.492000	0.28837	0.0934:0.0:0.9066:0.0	9.658	0.39100	868	0.31772	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1038.98	26	chr1	163338056	.	G	A	1038.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.510e-01;DP=748;ExcessHet=0.0000;FS=3.960;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.03;ReadPosRankSum=-3.240e-01;SOR=0.560	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1113	20	0	1	0
chr1	164849380	164849380	G	A	exonic	PBX1	.	nonsynonymous SNV	PBX1:NM_001204963:exon9:c.G1241A:p.R414Q,	Leukemia, acute pre-B-cell	.	10	1510	2	0	0	2	0.000661813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.893	P	0.417	B	.	.	.	.	0	N	-2.29	D	-0.795	T	0.237	T	0.08	0.590	7.185	0.427	0.458	-0.036	.	0.237	0.0115262147457	.	0.000599042	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs536700162	0.0001	0.0001	0.0001	0.0001	0.0003	9.607e-05	9.086e-05	0.0001	9.8e-05	0	0.0003	0	2.799e-05	2.977e-05	0.0002	0.0001	0.0001	3.786e-05	0.0002	0.0002	0.0002	9.408e-05	0.0003	0.0001	9.702e-05	0.0002	0.0001	4.816e-05	0.0022	0.0003	0	0	0	0	0.0002	0	0	.	.	.	0.589	0.08245	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.142	0.14196	-0.7946	0.55461	T	0.237	0.60439	T	7	0.023901433	0.00640	T	0.011526	0.29247	T	.	.	.	.	0.165150595986	0.16160	.	.	.	.	.	.	.	.	.	.	-0.482734	0.00713	T	-0.639042	0.09738	T	0.0351929863093563	0.02841	T	0.387561	0.09552	T	.	.	.	.	.	.	.	.	-2.998	0.10159	T	.	.	0.118	0.24088	B	.	.	0.394639	0.07661	4.330	0.91003240117748285	0.20253	0.02391	0.06784	N	AEFGBI	0.065040	0.12662	N	-0.75796028051058	0.14417	0.7180294	-0.962034699923795	0.10644	0.5374373	0.999949860432622	0.47345	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	0.427	0.427	0.15704	-0.018000	0.12508	0.143000	0.15197	0.509000	0.23192	0.001000	0.13787	0.000000	0.08366	0.012000	0.09680	.	.	.	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3325.98	34	chr1	164849380	.	G	A	3325.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.920e-01;DP=1026;ExcessHet=0.0000;FS=0.857;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=-9.870e-01;SOR=0.771	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1319	20	0	1	0
chr1	165544698	165544698	C	G	exonic	LRRC52	.	nonsynonymous SNV	LRRC52:NM_001005214:exon1:c.C402G:p.N134K,	.	.	435	1082	5	0	0	5	0.00230521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.834	P	0.459	P	0.000	D	0.527	N	0.755	N	0.32	T	-1.061	T	0.076	T	0.22	2.561	14.52	2.75	0.741	2.095	10.052	0.145	0.0123735985722	0.0008	0.000199681	0.0008	0.0004	8.637e-05	0	0	0.0010	0.0033	0.0015	0.0008926	138	154602	rs138107763	0.0014	0.0014	0.0014	0.0014	0.0020	0.0013	0.0013	0.0018	0.0017	0.0002	0.0001	3.826e-05	0	0	0.0002	0.0016	0.0009	0.0020	0.0009	0.0009	0.0009	0.0009	0.0021	0.0008	0.0007	0.0014	0.0013	0.0003	0	0.0001	0	0	0	0.0034	0.0016	0	0.0021	0.035	0.43708	D	0.057	0.46406	T	0.834	0.46206	P	0.459	0.46380	P	0.000005	0.62929	D	0.137948	0.993887	0.42086	D	1.655	0.42436	L	0.32	0.58468	T	-3.39	0.66896	D	0.416	0.45615	-1.0611	0.11483	T	0.076	0.30429	T	9	0.05193326	0.05149	T	0.012374	0.30882	T	0.145	0.38592	0.566	0.68768	0.854770896266	0.85337	0.5152294145550415	0.51445	0.27918584819	0.30399	0.470459967852	0.34744	T	0.120739	0.44319	T	-0.425524	0.01578	T	-0.40864	0.32382	T	0.0442984511568608	0.04475	T	0.689231	0.29860	T	0.4510049	0.64105	0.54957724	0.73958	0.4510049	0.64105	0.54957724	0.73958	-6.706	0.51855	T	.	.	0.352	0.56690	A	.	.	3.357087	0.46327	22.3	0.99523159250617355	0.69407	0.93555	0.58537	D	AEFBI	0.503181	0.53528	D	0.0840548968266859	0.45721	2.82382	0.141862770645191	0.46712	2.912809	0.590530400759296	0.21643	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	5.68	2.75	0.31439	2.370000	0.43893	1.070000	0.23796	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7692:0.0:0.2308	10.052	0.41394	909	0.22467	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	8227.11	36	chr1	165544698	.	C	G	8227.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.11;DP=1402;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=-1.099e+00;SOR=0.729	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1262	19	0	2	0
chr1	165743215	165743215	G	C	exonic	TMCO1	.	nonsynonymous SNV	TMCO1:NM_001256164:exon6:c.C471G:p.D157E	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.36	B	0.433	B	0.000	D	1.000	D	1.135	L	.	.	-0.981	T	0.105	T	0.858	4.070	20.9	4.33	0.955	5.327	11.107	0.283	0.00561825470216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.32355	T	0.36	0.33860	B	0.366	0.43381	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.23	0.30720	L	.	.	.	.	.	.	0.873	0.94550	-0.9809	0.34794	T	0.105	0.38513	T	8	0.7058418	0.72732	D	0.005618	0.14530	T	0.283	0.60100	0.787	0.90993	0.162503812791	0.15892	0.8982099665768731	0.89791	0.898319418033	0.70545	0.813728034496	0.84064	D	0.273669	0.64613	T	0.317	0.84250	D	0.217429	0.84044	D	0.938554227352142	0.60927	D	0.90061	0.74830	D	0.30915323	0.53713	0.28407496	0.54403	0.30915323	0.53713	0.28407496	0.54403	.	.	.	.	.	0.877	0.81325	P	.;.;.;.;.;.	.;.;.;.;.;.	3.073706	0.41320	21.3	0.99659428855862664	0.77820	0.98300	0.81404	D	AEFGBI	0.671349	0.63812	D	-0.0328772314455231	0.40371	2.396296	0.0994292813719545	0.44519	2.732209	0.972625305894158	0.29387	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	6.17	4.33	0.51083	5.433000	0.66269	5.507000	0.48788	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1486:0.0:0.8514:0.0	11.107	0.47427	893	0.26510	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	218.51	112	chr1	165743215	.	G	C	218.51	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-3.149e+00;DP=1772;ExcessHet=1.7912;FS=225.654;InbreedingCoeff=-0.2159;MLEAC=6;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.42;ReadPosRankSum=0.715;SOR=11.634	GT:AD:DP:GQ:PL	0/1:48,22:70:43:43,0,744	12	0	6	3
chr1	167094904	167094904	G	A	exonic	STYXL2	.	nonsynonymous SNV	STYXL2:NM_001080426:exon2:c.G55A:p.E19K,	.	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.892	P	0.113	B	0.559	N	0.977	N	0.55	N	3.81	T	-0.909	T	0.005	T	0.529	2.779	15.25	5.27	2.448	4.403	16.393	0.137	0.00671994760023	.	.	4.051e-05	0.0001	0	0	0	1.795e-05	0	0.0002	3.23e-05	5	154602	rs745821607	3.56e-05	3.557e-05	3.405e-05	3.716e-05	0.0003	2.764e-05	2.503e-05	6.094e-05	2.672e-05	0	0	0	0	0	0.0003	3.328e-05	9.944e-05	8.153e-05	1.973e-05	1.97e-05	2.571e-05	1.346e-05	2.941e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	2.416e-05	0	0	0	0	0	0	2.941e-05	0	0	0.008	0.58626	D	0.096	0.39340	T	0.892	0.49086	P	0.113	0.31689	B	0.558742	0.11358	N	0.758643	0.977486	0.25309	N	1.78	0.46185	L	3.81	0.03754	T	-0.39	0.13611	N	0.33	0.48963	-0.9095	0.46916	T	0.005	0.01542	T	10	0.15486172	0.29201	T	0.00672	0.17756	T	0.137	0.36984	.	.	0.325263233342	0.32141	0.6024434552373764	0.60175	0.0800996958353	0.09014	0.426671028137	0.28753	T	0.00285	0.02248	T	-0.297664	0.08882	T	-0.428682	0.30084	T	0.125325334306217	0.14943	T	0.79822	0.44280	T	0.1952566	0.41307	0.13140833	0.31554	0.1952566	0.41307	0.13140833	0.31553	-4.145	0.25951	T	.	.	0.083	0.14201	B	.;.;.	.;.;.	2.718806	0.35558	19.93	0.99870873936547555	0.94815	0.64024	0.32274	D	AEFDBCI	0.596596	0.59070	D	0.0688983712646746	0.45016	2.765334	0.12843882621231	0.46011	2.854148	0.999999999568743	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.467745	0.07146	0	0.564101	0.26826	0	.	.	5.27	5.27	0.73797	4.450000	0.59781	5.699000	0.49371	0.676000	0.76740	0.985000	0.35982	1.000000	0.68203	0.132000	0.19645	0.0:0.0:1.0:0.0	16.393	0.83384	824	0.40336	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1363.98	42	chr1	167094904	.	G	A	1363.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.43;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=-1.671e+00;SOR=0.712	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1301	20	0	1	0
chr1	167117481	167117481	G	A	exonic	STYXL2	.	nonsynonymous SNV	STYXL2:NM_001080426:exon4:c.G359A:p.R120Q,	.	.	433	1069	18	2	0	22	0.0101852	.	.	2806135	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.994	D	0.000	D	1.000	D	1.04	L	3.71	T	-1.020	T	0.022	T	0.793	4.411	23.4	4.83	2.496	9.263	18.098	0.292	0.0130630288598	0.0025	0.00259585	0.0048	0.0002	0.0019	0	0.0066	0.0066	0.0016	0.0049	0.0036416	563	154602	rs149732757	0.0034	0.0034	0.0032	0.0035	0.0069	0.0033	0.0033	0.0052	0.0047	0.0004	0.0020	0.0004	7.567e-05	0.0043	0.0069	0.0035	0.0030	0.0052	0.0029	0.0030	0.0031	0.0028	0.0046	0.0027	0.0026	0.0038	0.0036	0.0007	0	0.0039	0	0.0004	0.0033	0.0306	0.0042	0.0033	0.0046	0.015	0.52492	D	0.022	0.57587	D	1.0	0.90584	D	0.994	0.82059	D	0.000008	0.62929	D	0.062131	0.999859	0.49910	D	2.135	0.59519	M	3.71	0.04046	T	-1.48	0.36189	N	0.847	0.84298	-1.0196	0.23845	T	0.022	0.09559	T	10	0.015995622	0.00336	T	0.013063	0.32163	T	0.292	0.61157	.	.	0.468504517574	0.46476	0.7997036638635909	0.79924	0.325979279674	0.34754	0.440803349018	0.30686	T	0.018311	0.14784	T	-0.269497	0.11813	T	-0.157139	0.58607	T	0.055024042725563	0.06361	T	0.953105	0.82105	D	0.24432611	0.47380	0.21196899	0.45648	0.24432611	0.47380	0.21196899	0.45647	-6.324	0.48912	T	.	.	0.165	0.36436	B	.;.;.	.;.;.	4.629184	0.73586	26.0	0.9995370809607993	0.99963	0.98728	0.86094	D	AEFBI	0.928661	0.91322	D	0.625296346194803	0.74778	6.190958	0.596438220954964	0.74683	6.179075	0.999999997600906	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.83	4.83	0.61880	9.602000	0.97623	9.853000	0.82002	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.131000	0.19607	0.0:0.0:1.0:0.0	18.098	0.89427	898	0.25240	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2465.98	36	chr1	167117481	.	G	A	2465.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.275;DP=890;ExcessHet=0.0000;FS=2.562;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=1.73;SOR=0.908	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1326	20	0	1	0
chr1	167128343	167128343	T	A	exonic	STYXL2	.	nonsynonymous SNV	STYXL2:NM_001080426:exon6:c.T3212A:p.V1071E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.01	B	0.005	B	0.047	N	0.927	N	1.6	L	4.0	T	-0.931	T	0.004	T	0.314	1.764	11.86	1.24	0.796	0.099	5.379	0.051	0.00672813327107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.18823	T	0.321	0.19073	T	0.01	0.15535	B	0.005	0.11217	B	0.047075	0.23379	N	0.304706	0.927278	0.27148	N	2.48	0.72069	M	4.0	0.03239	T	-0.27	0.11366	N	0.376	0.50868	-0.9308	0.44021	T	0.004	0.01261	T	10	0.04312238	0.03129	T	0.006728	0.17784	T	0.051	0.14325	0.14	0.04369	0.292787519742	0.28880	0.1372316359330687	0.13647	0.140737400101	0.15877	0.466587662697	0.34212	T	0.00125	0.00742	T	-0.21357	0.18879	T	-0.544555	0.17852	T	0.133664503693581	0.15716	T	0.610139	0.23115	T	0.1448486	0.33230	0.16197994	0.37650	0.1448486	0.33229	0.16197994	0.37649	-0.044	0.00365	T	.	.	0.095	0.16099	B	.;.;.	.;.;.	1.605474	0.20521	14.79	0.96950551279895958	0.31735	0.03725	0.09017	N	AEFDBI	0.050532	0.08842	N	-0.557773413059119	0.20241	1.06555	-0.499334965718341	0.22172	1.203002	0.329989738516497	0.19475	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.29	1.24	0.20416	0.287000	0.18678	0.150000	0.15280	0.654000	0.53741	0.009000	0.18154	0.209000	0.23629	0.991000	0.66497	0.4911:0.0865:0.0:0.4224	5.379	0.15483	895	0.25842	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1349.98	34	chr1	167128343	.	T	A	1349.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.320e-01;DP=1377;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=0.458;SOR=0.753	GT:AD:DP:GQ:PL	0/0:107,0:107:99:0,120,1800	20	0	1	0
chr1	167697775	167697775	A	G	exonic	RCSD1	.	nonsynonymous SNV	RCSD1:NM_001322924:exon4:c.A989G:p.Q330R	.	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.0	B	0.0	B	0.007	N	0.938	N	0	N	1.02	T	-1.070	T	0.015	T	0.049	-0.239	2.846	-5.09	-0.866	-0.682	3.797	0.014	.	0.0033	0.00419329	0.0028	0.0176	0.0023	0	0	0	0	0	0.0008861	137	154602	rs34699420	0.0004	0.0004	0.0004	0.0003	0.0135	0.0003	0.0003	0.0124	0.0120	0.0135	0.0009	0	0	0	0.0006	9.425e-06	0.0009	0.0001	0.0037	0.0038	0.0035	0.0040	0.0130	0.0035	0.0034	0.0121	0.0117	0.0130	0	0.0016	0	0	0	0	0	0.0019	0.0002	0.419	0.09866	T	0.479	0.11933	T	0.0	0.02946	B	0.0	0.01387	B	0.007189	0.01158	N	2.746180	1	0.08975	N	0.755	0.19153	N	1.02	0.40749	T	-0.34	0.12661	N	0.081	0.05670	-1.0699	0.09436	T	0.015	0.06234	T	9	0.002888292	0.00046	T	.	.	.	0.014	0.01968	.	.	0.192905019026	0.18896	0.02229516708575138	0.02181	0.0312905223843	0.03243	0.219301402569	0.01270	T	0.003934	0.03343	T	-0.685133	0.00045	T	-0.745891	0.03649	T	0.00246245432486396	0.00026	T	0.39586	0.09952	T	0.028802121	0.02273	0.027511766	0.00910	0.028802121	0.02272	0.027511766	0.00910	-4.52	0.31149	T	.	.	0.080	0.07745	B	.;.	.;.	-0.594454	0.01588	0.107	0.22913236797363923	0.00944	0.00064	0.00463	N	AEFDGBI	0.024466	0.01520	N	-1.56508932039582	0.01448	0.06319435	-1.62303561979087	0.01521	0.06888175	0.999994273677853	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.0	-5.09	0.02699	-0.815000	0.04588	-0.108000	0.11862	-0.274000	0.06627	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.4163:0.0:0.3196:0.2641	3.797	0.08262	872	0.31118	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1027.98	33	chr1	167697775	.	A	G	1027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.177e+00;DP=809;ExcessHet=0.0000;FS=6.365;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.08;ReadPosRankSum=0.332;SOR=0.314	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1203	20	0	1	0
chr1	167993261	167993261	G	T	exonic	DCAF6	.	nonsynonymous SNV	DCAF6:NM_001198957:exon6:c.G631T:p.A211S	.	.	438	1080	4	0	0	4	0.00184843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.998	D	0.957	D	0.000	D	0.826	N	0.55	N	-1.46	T	-0.487	T	0.371	T	0.328	5.067	31	5.1	2.547	9.087	18.951	0.339	0.037794211972	0.0023	0.000998403	0.0024	0.0008	0.0007	0	0.0026	0.0034	0.0022	0.0014	0.0023156	358	154602	rs143999777	0.0031	0.0031	0.0031	0.0031	0.0036	0.0030	0.0030	0.0035	0.0034	0.0004	0.0005	7.653e-05	0	0.0038	0.0002	0.0036	0.0028	0.0021	0.0024	0.0024	0.0024	0.0025	0.0040	0.0022	0.0022	0.0036	0.0035	0.0005	0	0.0016	0	0	0.0044	0	0.0040	0.0014	0.0008	0.241	0.22224	T	0.475	0.14075	T	0.989	0.73220	D	0.856	0.69900	P	0.000075	0.52346	D	0.137286	0.999754	0.49394	D	1.355	0.33814	L	-1.46	0.80983	T	-1.23	0.31170	N	0.435	0.48319	-0.4867	0.69126	T	0.371	0.73008	T	9	0.010794342	0.00239	T	0.037794	0.57836	D	0.339	0.66106	.	.	0.482581879477	0.47888	0.3335849668557365	0.33271	1.07016356689	0.76788	0.624560594559	0.56373	T	0.028113	0.20438	T	-0.27694	0.10994	T	-0.172371	0.57226	T	0.0369783799619713	0.03153	T	0.947505	0.82456	D	0.12515353	0.29346	0.13032109	0.31316	0.1358009	0.31504	0.14784439	0.34971	-7.028	0.58325	T	0.07524068534035101	0.03331	0.125	0.41031	B	.;.;.;.	.;.;.;.	4.751570	0.76731	26.6	0.99687099338913576	0.79641	0.98721	0.86006	D	AEFGBI	0.950793	0.96477	D	0.406954273681883	0.61803	4.386556	0.492254867768104	0.67475	5.089094	0.999999999926248	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.1	5.1	0.68917	9.179000	0.93989	11.749000	0.95364	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.951	0.92615	518	0.74548	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	710.98	41	chr1	167993261	.	G	T	710.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.281e+00;DP=762;ExcessHet=0.0000;FS=2.041;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=-1.394e+00;SOR=0.467	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1123	20	0	1	0
chr1	167993421	167993421	C	T	exonic	DCAF6	.	nonsynonymous SNV	DCAF6:NM_001198957:exon6:c.C791T:p.A264V	.	.	431	1083	8	0	0	8	0.00367985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.777	P	0.26	B	0.000	D	0.964	N	0.345	N	0.28	T	-0.660	T	0.198	T	0.13	3.111	16.40	4.68	2.325	3.573	18.051	0.206	0.0372115176059	0.0002	0.000199681	0.0005	0	0.0008	0	0	0.0003	0.0011	0.0015	0.0004075	63	154602	rs142328126	0.0004	0.0004	0.0003	0.0005	0.0018	0.0004	0.0003	0.0016	0.0015	5.975e-05	0.0005	0.0002	0	0	0.0016	0.0003	0.0003	0.0018	0.0003	0.0003	0.0003	0.0003	0.0025	0.0002	0.0002	0.0014	0.0011	2.408e-05	0	0.0007	0	0	0	0.0034	0.0003	0.0005	0.0025	0.041	0.41915	D	0.459	0.12632	T	0.777	0.44168	P	0.26	0.39460	B	0.000030	0.55875	D	0.123170	0.721028	0.34224	D	1.355	0.33814	L	0.28	0.80899	T	-1.47	0.35991	N	0.315	0.37717	-0.6603	0.62263	T	0.198	0.55301	T	9	0.02482745	0.00697	T	0.037212	0.57479	D	0.206	0.49396	.	.	0.240615537116	0.23683	0.6011075134130565	0.60041	0.430707571193	0.43302	0.685822367668	0.65105	T	0.021446	0.16701	T	-0.387955	0.02772	T	-0.343277	0.39973	T	0.033449038285416	0.02546	T	0.779122	0.41282	T	0.113974884	0.26911	0.12533493	0.30201	0.113974884	0.26911	0.12533493	0.30201	-7.102	0.61193	T	0.22432003042208826	0.30294	0.088	0.15025	B	.;.;.;.	.;.;.;.	4.298489	0.65610	24.9	0.99616581387163816	0.75172	0.93530	0.58468	D	AEFBI	0.526776	0.54899	D	0.0067635552407662	0.42161	2.535229	0.144066846724652	0.46829	2.922537	0.999975128512512	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.68	4.68	0.58319	3.622000	0.53958	5.934000	0.51367	0.544000	0.25403	0.960000	0.33603	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.051	0.89274	518	0.74548	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1114.98	41	chr1	167993421	.	C	T	1114.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.49;DP=809;ExcessHet=0.0000;FS=2.501;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.23;ReadPosRankSum=-1.468e+00;SOR=0.730	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1123	20	0	1	0
chr1	168015904	168015904	C	G	exonic	DCAF6	.	nonsynonymous SNV	DCAF6:NM_001198957:exon10:c.C1409G:p.S470C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.994	D	0.847	P	0.237	N	0.999	N	.	.	0.29	T	0.199	D	0.577	D	0.221	3.162	16.58	5.08	2.519	4.745	17.034	0.193	0.0663868663574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.44e-06	2.052e-06	1.421e-06	1.46e-06	1.862e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.112	0.37173	T	0.994	0.66517	D	0.847	0.60522	P	0.236653	0.15803	N	0.620832	1	0.81001	D	.	.	.	0.29	0.80815	T	-1.44	0.35399	N	0.281	0.35727	0.199	0.85883	D	0.577	0.84742	D	8	0.25384134	0.42756	T	0.066387	0.69859	D	0.193	0.47281	0.186	0.09517	0.318725805183	0.31479	0.45603550426071676	0.45521	1.11834878413	0.78224	0.462630063295	0.33671	T	.	.	.	-0.0088661	0.50424	T	-0.250512	0.49767	T	0.942026853561401	0.61582	D	0.763824	0.39073	T	.	.	.	.	.	.	.	.	-8.932	0.67916	D	.	.	0.109	0.20857	B	.;.	.;.	4.508036	0.70568	25.5	0.97924715765615511	0.36914	0.94814	0.62421	D	AEFGBI	0.405733	0.47850	N	0.460621722958569	0.64807	4.743889	0.430190990811594	0.63454	4.579517	0.999368695473563	0.39301	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.08	5.08	0.68373	4.790000	0.62146	3.481000	0.38649	0.596000	0.33519	1.000000	0.71638	0.122000	0.22912	0.998000	0.85391	0.0:1.0:0.0:0.0	17.034	0.86344	534	0.73357	.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1197.98	33	chr1	168015904	.	C	G	1197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.786;DP=801;ExcessHet=0.0000;FS=3.686;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.30;ReadPosRankSum=1.03;SOR=0.386	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1055	20	0	1	0
chr1	169536616	169536616	G	A	exonic	F5	.	stopgain	F5:NM_000130:exon14:c.C4861T:p.R1621X,	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	3067045	Congenital_factor_V_deficiency	MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	12.960	46	4.06	1.166	4.141	14.587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.106e-06	4.788e-06	5.448e-06	2.751e-06	0.0002	1.48e-06	9.7e-07	1.583e-05	9.3e-06	0	0	0	0	0	0.0002	8.997e-07	0	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000018	0.62929	D	0.072732	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.842	0.83781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	8.658823	0.97848	38	0.99837046239837035	0.91800	0.95560	0.65208	D	AEFBI	0.150227	0.27447	N	0.715986483944103	0.80680	7.348353	0.564177340994092	0.72389	5.802195	0.942663585797136	0.27532	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.0	4.06	0.46572	4.172000	0.58036	7.059000	0.57399	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.8482:0.1518	14.587	0.67929	774	0.48577	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	923.98	35	chr1	169536616	.	G	A	923.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.516e+00;DP=793;ExcessHet=0.0000;FS=0.786;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.04;ReadPosRankSum=0.263;SOR=0.721	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1158	20	0	1	0
chr1	169543100	169543100	T	C	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon13:c.A1990G:p.T664A,	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.134	B	0.037	B	0.000	D	0.993	N	0.525	N	-6.53	D	0.619	D	0.851	D	0.172	0.816	8.282	4.83	1.058	3.319	3.632	0.458	0.307759462112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.412	0.10345	T	0.887	0.03161	T	0.134	0.27266	B	0.037	0.23121	B	0.000001	0.84330	D	0.056447	0.99511	0.23368	N	0.585	0.15399	N	-6.53	0.99718	D	-2.07	0.47344	N	0.066	0.03841	0.619	0.92143	D	0.851	0.95035	D	9	0.23049387	0.40002	T	0.307759	0.91088	D	0.458	0.75619	0.361	0.36548	0.795806671898	0.79390	0.5346686894296542	0.53391	0.454053783724	0.45095	0.441018134356	0.30716	T	0.047561	0.27759	T	0.0550242	0.58987	T	-0.158738	0.58465	T	0.641807854175568	0.38114	D	0.630137	0.24490	T	0.20635138	0.42806	0.17928055	0.40652	0.20635138	0.42806	0.17928055	0.40651	-4.938	0.36159	T	0.3944293350077439	0.48716	0.133	0.30211	B	.;.	.;.	3.106499	0.41883	21.4	0.91896358026124669	0.21216	0.62948	0.31937	D	AEFBI	0.114786	0.22596	N	-0.337745020614023	0.27725	1.523471	-0.157157798761181	0.33134	1.892204	0.00297471674067849	0.09841	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.98	4.83	0.61880	3.535000	0.53331	2.828000	0.35004	0.607000	0.46521	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.2913:0.1341:0.0:0.5746	3.632	0.07675	772	0.48957	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	940.98	37	chr1	169543100	.	T	C	940.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.402;DP=866;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.68;ReadPosRankSum=-1.360e-01;SOR=0.601	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr1	169550696	169550696	G	A	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon9:c.C1340T:p.P447L,	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	.	0	1520	1	0	1	2	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.857	P	0.002	N	0.926	D	1.82	L	-5.09	D	1.082	D	0.938	D	0.724	3.599	18.32	5.49	2.739	6.096	10.878	0.618	0.399480711972	7.7e-05	.	3.298e-05	0	0	0	0	4.498e-05	0	6.058e-05	2.59e-05	4	154602	rs368387623	1.437e-05	1.437e-05	1.361e-05	1.513e-05	2.987e-05	9.23e-06	7.84e-06	5.75e-06	4.55e-06	2.987e-05	0	0	2.52e-05	0	0	1.079e-05	9.935e-05	1.159e-05	2.629e-05	2.627e-05	0	5.382e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.414e-05	0	0	0	0	0	0	4.41e-05	0	0	0.028	0.46513	D	0.08	0.42086	T	0.997	0.70673	D	0.857	0.61067	P	0.002315	0.36806	N	0.302332	0.999991	0.81001	D	2.585	0.75554	M	-5.09	0.98684	D	-7.03	0.93810	D	0.392	0.43320	1.082	0.98947	D	0.938	0.97954	D	9	0.569925	0.65261	D	0.399481	0.93366	D	0.618	0.85144	.	.	0.912855958394	0.91197	0.852963332444918	0.85258	0.381810344723	0.39529	0.591434836388	0.51697	T	0.431246	0.77943	T	0.249648	0.78567	D	0.228483	0.84594	D	0.836836218833923	0.49071	D	0.880112	0.60710	D	0.12226369	0.28735	0.17847614	0.40520	0.12226369	0.28734	0.17847614	0.40519	-5.715	0.43827	T	0.8736941785216383	0.93362	0.652	0.71022	P	.;.	.;.	3.607858	0.50997	23.0	0.99741095185605277	0.83482	0.88234	0.48071	D	AEFGBCI	0.770964	0.70574	D	0.729697727500512	0.81579	7.555479	0.737095285657593	0.85188	8.507144	0.997104245415345	0.35279	0.533608	0.22052	0	0.615948	0.52940	0	0.685742	0.62368	0	0.584449	0.35598	0	.	.	5.49	5.49	0.81022	5.365000	0.65866	11.744000	0.95258	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1155:0.0:0.8845:0.0	10.878	0.46133	770	0.49152	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	810.98	34	chr1	169550696	.	G	A	810.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=769;ExcessHet=0.0000;FS=0.889;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.11;ReadPosRankSum=-8.930e-01;SOR=0.880	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr1	169842501	169842501	G	A	exonic	C1orf112	.	nonsynonymous SNV	C1orf112:NM_001366773:exon16:c.G841A:p.V281I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.004	B	0.01	B	0.093	N	0.990	D	0.28	N	1.18	T	-1.054	T	0.020	T	0.094	1.564	11.18	3.29	1.313	0.286	8.758	0.025	0.00320975940986	.	.	8.24e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs760646657	3.421e-06	3.42e-06	0	6.876e-06	4.638e-05	1e-06	7.3e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	8.993e-07	0	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	0.08237	T	0.632	0.09393	T	0.004	0.12183	B	0.01	0.14941	B	0.093153	0.20238	N	0.549745	0.999331	0.21346	N	0.945	0.23706	L	1.18	0.37746	T	-0.04	0.07590	N	0.095	0.08646	-1.0539	0.13332	T	0.020	0.08453	T	10	0.04478517	0.03475	T	0.00321	0.07057	T	0.025	0.05312	0.168	0.07302	0.1749357433	0.17121	0.04733586531245251	0.04676	0.0561614499495	0.06201	.	.	.	0.009266	0.08447	T	-0.332975	0.05890	T	-0.619218	0.11246	T	0.0811485332667738	0.10134	T	0.620638	0.24459	T	0.015807645	0.00159	0.022802401	0.00298	0.015807645	0.00158	0.022802401	0.00298	-3.721	0.22377	T	.	.	0.093	0.15296	B	.;.;.	.;.;.	2.226056	0.28409	17.79	0.94923913931391291	0.25800	0.12033	0.17018	N	AEFBI	0.036723	0.04940	N	-0.596639725689507	0.19047	0.9937844	-0.450288979926815	0.23541	1.284296	5.57829453628209E-4	0.07304	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.18	3.29	0.36801	0.352000	0.19851	0.670000	0.20585	0.676000	0.76740	0.158000	0.23769	0.001000	0.17328	0.841000	0.39698	0.1765:0.0:0.8235:0.0	8.758	0.33814	488	0.76887	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1054.98	33	chr1	169842501	.	G	A	1054.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.835;DP=763;ExcessHet=0.0000;FS=4.350;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.53;ReadPosRankSum=1.28;SOR=0.443	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1377	20	0	1	0
chr1	169851821	169851821	G	A	exonic	C1orf112	.	nonsynonymous SNV	C1orf112:NM_001366773:exon21:c.G1280A:p.G427E	.	.	431	1081	10	0	0	10	0.00460405	.	.	2806150	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.58	T	0.006	B	0.016	B	0.003	N	0.941	D	0.51	N	1.04	T	-1.056	T	0.024	T	0.121	0.837	8.379	3.67	0.676	1.888	7.432	0.020	0.00551394939243	0.0035	0.00119808	0.0032	0.0005	0.0010	0	0.0041	0.0043	0.0055	0.0029	0.0030789	476	154602	rs74523449	0.0038	0.0038	0.0038	0.0039	0.0043	0.0038	0.0037	0.0042	0.0041	0.0004	0.0007	0.0014	2.52e-05	0.0049	0.0017	0.0043	0.0027	0.0038	0.0027	0.0027	0.0029	0.0025	0.0047	0.0025	0.0024	0.0042	0.0041	0.0007	0	0.0007	0.0012	0	0.0034	0	0.0047	0.0024	0.0033	0.434	0.09430	T	1.0	0.06576	T	0.006	0.13644	B	0.016	0.17743	B	0.003131	0.35389	N	0.313387	0.999969	0.18878	N	1.59	0.40313	L	1.04	0.40218	T	0.04	0.06488	N	0.225	0.25253	-1.0564	0.12672	T	0.024	0.10284	T	10	0.004492849	0.00092	T	0.005514	0.14197	T	0.020	0.03691	.	.	0.396794106654	0.39292	0.2651336989800043	0.26426	0.0809065131019	0.09109	.	.	.	0.007202	0.06615	T	-0.573593	0.00211	T	-0.59671	0.13089	T	0.00480137679770692	0.00052	T	0.643636	0.25592	T	0.026224706	0.01653	0.04886347	0.07347	0.026224706	0.01653	0.04886347	0.07346	-3.752	0.22077	T	.	.	0.123	0.35247	B	.;.;.	.;.;.	1.788939	0.22740	15.74	0.87281711957695274	0.17116	0.53669	0.29428	D	AEFGBI	0.084856	0.17200	N	-0.513183891308574	0.21653	1.150718	-0.355549339792196	0.26337	1.454112	0.701617323053937	0.22707	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.57	3.67	0.41236	2.017000	0.40600	2.122000	0.30726	-0.103000	0.15852	0.738000	0.29006	0.939000	0.28734	0.944000	0.48669	0.0863:0.0:0.7481:0.1656	7.432	0.26307	490	0.76723	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	661.98	51	chr1	169851821	.	G	A	661.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.112;DP=736;ExcessHet=0.0000;FS=4.058;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=-1.310e+00;SOR=0.287	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1060	20	0	1	0
chr1	169855940	169855940	C	T	exonic	SCYL3	.	nonsynonymous SNV	SCYL3:NM_181093:exon12:c.G1330A:p.V444I,	.	.	430	1069	23	0	0	23	0.0106432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.002	B	0.001	B	0.181	N	1.000	N	1.245	L	2.01	T	-1.003	T	0.013	T	0.014	-0.203	3.015	-0.504	-0.077	-1.026	2.905	0.007	0.00184080076979	0.0012	0.000998403	0.0012	0.0004	0.0018	0.0005	0	0.0013	0.0033	0.0015	0.001119	173	154602	rs140724273	0.0010	0.0010	0.0009	0.0011	0.0331	0.0010	0.0009	0.0293	0.0278	0.0007	0.0019	0.0047	0.0004	0	0.0331	0.0007	0.0020	0.0015	0.0011	0.0011	0.0010	0.0013	0.0037	0.0010	0.0009	0.0030	0.0027	0.0002	0	0.0037	0.0058	0	0	0.0408	0.0009	0.0024	0.0012	0.308	0.14111	T	0.735	0.05072	T	0.002	0.09854	B	0.001	0.04355	B	0.181091	0.03182	N	1.738610	1	0.08975	N	0.6	0.15550	N	2.01	0.21291	T	-0.22	0.10480	N	0.058	0.03175	-1.0030	0.29050	T	0.013	0.04938	T	10	0.0062609315	0.00141	T	0.001841	0.03193	T	0.007	0.00512	.	.	0.082315109003	0.07666	0.17223653139811007	0.17143	0.160143282942	0.18067	0.243769258261	0.03139	T	0.002075	0.01480	T	-0.726199	0.00025	T	-0.834926	0.01178	T	0.000307838108169289	0.00002	T	0.526647	0.17353	T	0.030046906	0.02601	0.024858981	0.00513	0.030046906	0.02601	0.024858981	0.00513	-3.436	0.15545	T	.	.	0.068	0.03026	B	.;.	.;.	0.865839	0.12382	8.921	0.84427287575378418	0.15285	0.01388	0.04719	N	AEFBI	0.029786	0.02875	N	-1.23491532840644	0.04503	0.2033349	-1.28465771817894	0.04637	0.2191971	0.652535881401227	0.22180	0.660377	0.49826	0	0.615513	0.52658	0	0.696353	0.63694	0	0.528226	0.09195	0	.	.	3.95	-0.504	0.11398	-1.019000	0.03733	-2.487000	0.03694	-0.278000	0.06506	0.000000	0.06391	0.000000	0.08366	0.478000	0.28520	0.1973:0.408:0.0:0.3947	2.905	0.05367	492	0.76569	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1163.98	37	chr1	169855940	.	C	T	1163.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.137e+00;DP=775;ExcessHet=0.0000;FS=2.045;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.32;ReadPosRankSum=0.174;SOR=0.448	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	20	0	1	0
chr1	169876054	169876054	A	G	exonic	SCYL3	.	nonsynonymous SNV	SCYL3:NM_020423:exon4:c.T389C:p.V130A	.	.	433	1080	8	1	0	10	0.00460829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.995	D	0.000	D	1.000	D	3.095	M	-1.04	T	0.449	D	0.641	D	0.845	4.807	27.2	5.65	2.150	8.792	15.547	0.815	0.134429817425	0.0012	0.00119808	0.0025	0.0002	0.0014	0	0.0029	0.0031	0.0011	0.0036	0.002335	361	154602	rs149229551	0.0019	0.0019	0.0018	0.0020	0.0036	0.0018	0.0018	0.0032	0.0031	0.0002	0.0014	0.0038	0	0.0022	0.0031	0.0018	0.0020	0.0036	0.0016	0.0016	0.0015	0.0016	0.0039	0.0014	0.0013	0.0026	0.0021	0.0002	0.0143	0.0013	0.0046	0	0.0016	0	0.0021	0.0014	0.0039	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.987	0.83170	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.425	0.91960	M	-1.04	0.76561	T	-3.66	0.71639	D	0.845	0.85027	0.449	0.89813	D	0.641	0.87465	D	9	0.023034424	0.00591	T	0.13443	0.81686	D	0.815	0.94046	.	.	0.777902203524	0.77585	0.724757039704619	0.72419	0.838348222315	0.67911	0.687627434731	0.65365	T	0.222092	0.58584	T	0.0175693	0.54052	T	0.250671	0.85649	D	0.0797101259765346	0.09950	T	0.911409	0.69499	D	0.5889375	0.72093	0.6420084	0.79081	0.5889375	0.72094	0.6420084	0.79082	-9.207	0.69019	D	.	.	0.63	0.71382	P	.;.;.;.	.;.;.;.	4.961518	0.82045	27.7	0.99875459185199744	0.95244	0.98980	0.89484	D	AEFBI	0.864882	0.78381	D	0.847975610197684	0.88993	9.792196	0.804255172894076	0.90087	10.25075	0.999999905350496	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.65	5.65	0.86881	8.782000	0.91448	11.077000	0.85682	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.547	0.75846	552	0.72024	.;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	407.98	35	chr1	169876054	.	A	G	407.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=756;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.27;ReadPosRankSum=0.334;SOR=0.610	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	20	0	1	0
chr1	170167735	170167735	T	C	exonic	METTL11B	.	nonsynonymous SNV	METTL11B:NM_001136107:exon4:c.T830C:p.L277P,	.	.	433	1037	50	2	0	54	0.0253759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.961	D	0.000	D	1.000	D	2.89	M	0.96	T	-0.470	T	0.241	T	0.926	4.491	24.1	5.56	2.115	7.303	15.384	0.620	.	0.0096	0.00379393	0.0122	0.0009	0.005	0	0.0021	0.0130	0.0112	0.0171	0.0027425	424	154602	rs144066772	0.0089	0.0085	0.0084	0.0094	0.0178	0.0088	0.0087	0.0150	0.0145	0.0015	0.0048	0.0126	2.798e-05	0.0011	0.0178	0.0093	0.0080	0.0155	0.0067	0.0067	0.0065	0.0069	0.0133	0.0064	0.0062	0.0107	0.0097	0.0015	0	0.0080	0.0130	0.0002	0.0009	0.0136	0.0102	0.0090	0.0133	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.961	0.70482	D	0.000014	0.62929	D	0.145209	1	0.81001	D	2.92	0.84325	M	0.96	0.42888	T	-5.62	0.86758	D	0.847	0.84298	-0.4702	0.69718	T	0.241	0.60869	T	10	0.012806088	0.00274	T	.	.	.	0.620	0.85249	.	.	0.202086224978	0.19791	0.9918532488059894	0.99180	.	.	0.498373031616	0.38601	T	0.172237	0.52065	T	-0.0719823	0.41007	T	0.13615	0.79294	D	0.0186801547117924	0.00581	T	0.568143	0.20156	T	0.9848461	0.99457	0.94898534	0.98338	0.9848461	0.99457	0.94898534	0.98338	-12.908	0.88980	D	.	.	0.914	0.83719	P	.	.	4.620278	0.73354	26.0	0.99861864283003476	0.94002	0.99628	0.98136	D	AEFDBI	0.925043	0.90398	D	0.701806787569926	0.79750	7.144214	0.606312696634307	0.75399	6.30337	0.999999998258667	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.56	5.56	0.83678	7.346000	0.78586	7.909000	0.73932	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.131000	0.19607	0.0:0.0:0.0:1.0	15.384	0.74403	748	0.52143	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2031.98	34	chr1	170167735	.	T	C	2031.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.553;DP=885;ExcessHet=0.0000;FS=0.585;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=-5.490e-01;SOR=0.787	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1287	20	0	1	0
chr1	170996581	170996581	A	C	exonic	MROH9	.	nonsynonymous SNV	MROH9:NM_001163629:exon14:c.A1412C:p.E471A	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.0	B	0.0	B	0.347	N	1.000	N	-0.69	N	2.44	T	-1.015	T	0.024	T	0.19	0.995	9.062	-8.03	-1.608	-0.798	1.474	0.043	0.00766098047271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.15354	T	0.081	0.41742	T	0.0	0.02946	B	0.0	0.01387	B	0.347193	0.13872	N	0.699306	1	0.08975	N	-0.69	0.01958	N	-0.31	0.68030	T	-1.99	0.49519	N	0.177	0.19593	-1.0152	0.25272	T	0.024	0.10284	T	10	0.049176633	0.04470	T	0.007661	0.20325	T	0.043	0.11576	0.51	0.60693	0.0986583533028	0.09354	0.2253437133148249	0.22449	0.0580847222428	0.06430	0.292782664299	0.09329	T	0.053956	0.29588	T	-0.209759	0.19413	T	-0.539081	0.18387	T	0.445456981658936	0.30630	T	0.270573	0.04555	T	0.03782119	0.04923	0.038033508	0.03584	0.03782119	0.04922	0.038033508	0.03584	-5.284	0.39784	T	.	.	0.118	0.24157	B	.;.	.;.	0.124696	0.05214	1.724	0.43666708499899665	0.03303	0.01687	0.05379	N	AEFBI	0.045735	0.07515	N	-2.189817884735	0.00081	0.003461695	-2.19195595817096	0.00117	0.005127977	0.294785221243012	0.19126	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.75	-8.03	0.00984	-0.800000	0.04661	0.530000	0.19240	-1.548000	0.00966	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3359:0.1799:0.3101:0.1742	1.474	0.02275	836	0.38045	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1407.98	132	chr1	170996581	.	A	C	1407.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.327e+00;DP=833;ExcessHet=0.0000;FS=0.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.67;ReadPosRankSum=1.47;SOR=0.608	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1424	20	0	1	0
chr1	171014124	171014124	A	G	exonic	MROH9	.	nonsynonymous SNV	MROH9:NM_001163629:exon16:c.A1604G:p.N535S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.782	P	0.223	B	.	.	1.000	N	0.46	N	-0.12	T	-1.144	T	0.050	T	0.034	2.075	12.90	4.62	2.188	2.680	7.681	0.122	0.0199247147876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.153e-07	2.052e-06	0	1.45e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	0.17701	T	0.212	0.26549	T	.	.	.	.	.	.	.	.	.	.	0.995552	0.23261	N	.	.	.	-0.12	0.64630	T	-1.73	0.41046	N	0.165	0.17416	-1.1441	0.01212	T	0.050	0.21222	T	9	0.23847875	0.40970	T	0.019925	0.42414	T	0.122	0.33800	0.353	0.35246	0.754112680692	0.75189	0.11310028042508319	0.11238	0.175275092821	0.19731	0.543920516968	0.44999	T	.	.	.	-0.241217	0.15194	T	-0.584268	0.14166	T	0.610220324395081	0.36809	D	0.634137	0.24845	T	.	.	.	.	.	.	.	.	-3.147	0.11843	T	.	.	0.112	0.22024	B	.	.	2.062943	0.26232	17.04	0.99319194411595824	0.59317	0.74227	0.36309	D	AEFGI	0.289672	0.40125	N	0.0136313926209575	0.42475	2.559888	0.143934554698299	0.46820	2.921949	0.00254346581181869	0.09519	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.74	4.62	0.56946	2.800000	0.47595	5.283000	0.48186	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.909000	0.44452	0.9077:0.0:0.0923:0.0	7.681	0.27682	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1063.98	35	chr1	171014124	.	A	G	1063.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.320e-01;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=-1.417e+00;SOR=0.684	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1309	20	0	1	0
chr1	171199382	171199382	G	A	exonic	FMO2	.	nonsynonymous SNV	FMO2:NM_001365900:exon4:c.G326A:p.R109H	.	.	415	1093	13	1	0	15	0.00681508	.	.	718386	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.19	T	1.0	D	0.981	D	0.000	D	0.960	D	0.93	L	0.3	T	-0.794	T	0.171	T	0.501	3.303	17.10	5.26	1.631	3.368	11.565	0.347	0.0159901046176	0.0049	0.00279553	0.0044	0.0019	0.0020	0	0.0024	0.0060	0.0045	0.0044	0.0046507	719	154602	rs148292940	0.0068	0.0068	0.0069	0.0067	0.0078	0.0067	0.0066	0.0077	0.0076	0.0008	0.0032	0.0046	2.536e-05	0.0032	0.0061	0.0078	0.0067	0.0040	0.0050	0.0050	0.0052	0.0047	0.0072	0.0047	0.0045	0.0066	0.0064	0.0018	0	0.0063	0.0046	0	0.0045	0	0.0072	0.0028	0.0058	0.145	0.25154	T	0.279	0.21745	T	.	.	.	.	.	.	0.000002	0.62929	D	0.103040	0.959996	0.38156	D	.	.	.	0.3	0.58755	T	-4.19	0.75615	D	0.274	0.31027	-0.7940	0.55496	T	0.171	0.51197	T	10	0.013393253	0.00284	T	0.01599	0.37021	T	0.347	0.66863	.	.	0.696484460985	0.69386	0.21569677316845035	0.21485	.	.	0.26549115777	0.05562	T	.	.	.	-0.373789	0.03407	T	-0.303726	0.44330	T	0.0278224029496475	0.01662	T	0.886311	0.61284	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.30076	B	.	.	3.677240	0.52319	23.2	0.99614359351593751	0.74992	0.95091	0.63404	D	AEFBI	0.629797	0.61138	D	0.486851093789355	0.66320	4.935103	0.519685206408787	0.69315	5.342971	0.133916200987277	0.17144	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.17	5.26	0.73479	2.555000	0.45515	2.704000	0.34183	0.671000	0.69459	0.983000	0.35670	0.724000	0.26372	0.992000	0.67800	0.1434:0.0:0.8566:0.0	11.565	0.50052	734	0.53889	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	776.98	35	chr1	171199382	.	G	A	776.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.080;DP=781;ExcessHet=0.0000;FS=4.109;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.63;ReadPosRankSum=1.40;SOR=0.386	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1173	20	0	1	0
chr1	171267701	171267701	C	G	exonic	FMO1	.	nonsynonymous SNV	FMO1:NM_001282692:exon2:c.C303G:p.H101Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.478	P	0.543	P	0.446	N	1.000	D	2.04	M	0.4	T	-0.861	T	0.095	T	0.159	1.051	9.292	-2.31	-0.499	-0.104	0.045	0.179	.	0.0042	0.00499201	0.0015	0.0164	0.0003	0	0	7.579e-05	0.0023	0	0.0013907	215	154602	rs56841822	0.0005	0.0005	0.0005	0.0004	0.0159	0.0004	0.0004	0.0148	0.0143	0.0159	0.0007	0	0	0	0.0005	4.05e-05	0.0013	5.83e-05	0.0043	0.0043	0.0044	0.0042	0.0149	0.0040	0.0039	0.0139	0.0135	0.0149	0	0.0014	0	0	0	0	8.819e-05	0.0057	0.0002	0.075	0.34444	T	0.115	0.36630	T	0.002	0.09854	B	0.005	0.11217	B	0.445723	0.12571	N	0.743675	1	0.81001	D	1.36	0.34107	L	0.4	0.57261	T	-3.64	0.69835	D	0.206	0.22870	-0.8606	0.51220	T	0.095	0.35791	T	10	0.007351488	0.00167	T	.	.	.	0.179	0.44899	0.192	0.10304	0.412328234245	0.40847	0.13976919691155357	0.13899	0.119698809295	0.13485	0.221383795142	0.01391	T	0.085261	0.37462	T	-0.513083	0.00482	T	-0.495504	0.22814	T	0.0551178974706064	0.06378	T	0.659934	0.26896	T	0.24312477	0.47247	0.23322298	0.48505	0.24312477	0.47247	0.23322298	0.48504	-8.004	0.61098	D	.	.	0.091	0.13362	B	.;.;.	.;.;.	0.471708	0.08413	5.168	0.88714597294124387	0.18197	0.05249	0.11084	N	ALL	0.071450	0.14224	N	-0.946238655588462	0.09778	0.464247	-1.03642558311933	0.08992	0.4449577	0.99840208144859	0.36906	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.68	-2.31	0.06380	-0.064000	0.11593	-0.126000	0.11669	-1.834000	0.00587	0.000000	0.06391	0.000000	0.08366	0.701000	0.34172	0.3041:0.2183:0.1735:0.3041	0.045	0.00008	734	0.53889	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1192.98	34	chr1	171267701	.	C	G	1192.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.327e+00;DP=794;ExcessHet=0.0000;FS=0.700;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.11;ReadPosRankSum=-3.320e-01;SOR=0.776	GT:AD:DP:GQ:PL	0/1:64,54:118:99:1207,0,1759	20	0	1	0
chr1	171545636	171545636	C	A	exonic	PRRC2C	.	nonsynonymous SNV	PRRC2C:NM_015172:exon17:c.C4915A:p.P1639T,	.	.	0	225	1	0	0	1	0.00221729	.	.	2683166	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.001	D	1.000	D	1.995	M	4.58	T	-1.058	T	0.019	T	0.375	2.558	14.51	5.37	2.533	5.764	19.173	0.168	0.041785708303	.	.	0.0001	0.0001	0	0.0001	0	0.0002	0	0	8.41e-05	13	154602	rs773951826	3.285e-05	3.283e-05	2.86e-05	3.715e-05	3.059e-05	2.545e-05	2.25e-05	2.202e-05	1.943e-05	2.989e-05	0	0.0003	0	0	0	3.059e-05	3.314e-05	2.322e-05	3.289e-05	3.941e-05	1.286e-05	5.386e-05	0.0002	1.262e-05	7.99e-06	8.01e-06	3e-06	4.833e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.083	0.40068	T	0.009	0.66756	D	1.0	0.90584	D	0.999	0.92359	D	0.000544	0.43413	D	0.000000	1	0.81001	D	1.36	0.34107	L	4.58	0.01901	T	-2.94	0.62008	D	0.13	0.19593	-1.0582	0.12209	T	0.019	0.08126	T	10	0.13883758	0.26401	T	0.041786	0.60115	D	0.240	0.54500	0.369	0.37850	0.082315109003	0.07666	0.05633529141836229	0.05574	0.209392805901	0.23407	0.813337683678	0.84005	D	0.053333	0.29415	T	-0.251542	0.13910	T	-0.407416	0.32525	T	0.328674137592316	0.26171	T	0.839916	0.51747	T	.	.	.	.	.	.	.	.	-11.065	0.80013	D	.	.	.	.	.	.;.;.	.;.;.	2.970044	0.39582	21.0	0.95938132557267841	0.28236	0.98924	0.88695	D	AEFBI	0.612204	0.60036	D	0.741745090320191	0.82364	7.744841	0.7223020596247	0.84074	8.191347	0.999999992712156	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.37	5.37	0.76949	5.659000	0.67680	3.406000	0.38159	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.173	0.93571	368	0.84463	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	325.98	35	chr1	171545636	.	C	A	325.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.796;DP=769;ExcessHet=0.0000;FS=1.435;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.76;ReadPosRankSum=1.83;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:93:.:.:0,93,1395	20	0	1	0
chr1	172387227	172387227	G	A	exonic	DNM3	.	nonsynonymous SNV	DNM3:NM_001136127:exon18:c.G2141A:p.R714H	.	.	429	1049	43	1	0	45	0.0209986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.467	P	0.233	B	0.000	D	1.000	D	2.575	M	0.42	T	-0.858	T	0.119	T	0.222	2.867	15.55	4.52	1.441	1.786	9.773	0.179	.	0.0005	0.00958466	0.0064	0.0005	0.0008	0	0	0.0006	0.0122	0.0426	0.0055239	854	154602	rs199616510	0.0030	0.0030	0.0017	0.0044	0.0439	0.0030	0.0029	0.0427	0.0422	0.0003	0.0006	0	0.0002	3.745e-05	0.0076	0.0003	0.0028	0.0439	0.0017	0.0017	0.0011	0.0025	0.0456	0.0016	0.0015	0.0407	0.0388	0.0003	0	0.0007	0	0	0	0	0.0003	0.0005	0.0456	0.071	0.38863	T	0.153	0.33330	T	0.066	0.36479	B	0.011	0.38358	B	0.000001	0.62929	D	0.052276	0.999601	0.47795	D	1.705	0.44259	L	0.42	0.56937	T	-3.22	0.70793	D	0.16	0.25499	-0.8579	0.51413	T	0.119	0.41626	T	10	0.011695832	0.00254	T	.	.	.	0.179	0.44899	.	.	0.559310644637	0.55592	0.6037449557045037	0.60305	.	.	0.410042673349	0.26462	T	0.334391	0.70413	T	-0.486751	0.00677	T	-0.440544	0.28747	T	0.0444640016845899	0.04504	T	0.922308	0.71764	D	0.15019159	0.34203	0.14283144	0.33967	0.15019159	0.34203	0.14283144	0.33966	-8.728	0.66008	D	.	.	0.080	0.17827	B	.;.;.;.	.;.;.;.	2.890302	0.38275	20.7	0.99279535840508282	0.57869	0.88715	0.48775	D	AEFI	0.357164	0.44830	N	-0.0326096827136058	0.40381	2.397203	0.0561951506101495	0.42373	2.561725	0.999999058003625	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.43	4.52	0.54797	2.199000	0.42348	3.067000	0.36184	-0.875000	0.02511	1.000000	0.71638	0.999000	0.35428	0.969000	0.54022	0.1594:0.0:0.8406:0.0	9.773	0.39769	490	0.76723	Dynamin GTPase effector|GTPase effector domain|Dynamin GTPase effector;.;.;Dynamin GTPase effector|GTPase effector domain|Dynamin GTPase effector	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2525.98	35	chr1	172387227	.	G	A	2525.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.55;DP=903;ExcessHet=0.0000;FS=2.550;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=0.099;SOR=0.900	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr1	172551552	172551552	G	A	exonic	SUCO	.	nonsynonymous SNV	SUCO:NM_001282750:exon2:c.G103A:p.A35T	.	.	.	.	.	.	.	.	.	.	.	1567567	SUCO-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.17	T	0.001	B	0.002	B	0.575	N	0.888	N	0.345	N	.	.	-0.996	T	0.025	T	0.057	2.980	15.94	2.52	0.703	0.991	8.075	0.075	.	0.0065	0.00638978	0.0017	0.0191	0.0008	0	0	6.062e-05	0	6.123e-05	0.0016559	256	154602	rs113997299	0.0005	0.0006	0.0007	0.0004	0.0196	0.0005	0.0005	0.0184	0.0179	0.0196	0.0008	0	0	0	0	2.431e-05	0.0011	2.329e-05	0.0055	0.0055	0.0056	0.0052	0.0190	0.0051	0.0050	0.0179	0.0175	0.0190	0	0.0018	0	0	0	0	4.417e-05	0.0033	0.0002	0.027	0.46513	D	0.606	0.26467	T	0.0	0.07471	B	0.001	0.06944	B	0.575373	0.11196	N	0.748699	0.887547	0.27941	N	1.905	0.50856	L	.	.	.	0.18	0.05035	N	0.277	0.36043	-0.9962	0.30974	T	0.025	0.10553	T	9	0.0032934546	0.00057	T	.	.	.	0.075	0.21907	.	.	0.162503812791	0.15892	0.07866845278819794	0.07801	0.139667049635	0.15743	0.395820558071	0.24487	T	0.004918	0.46751	T	-0.562726	0.00244	T	-0.565498	0.15864	T	0.0188414986111095	0.00595	T	0.80392	0.45144	T	0.044575162	0.07149	0.06399853	0.12761	0.044575162	0.07149	0.06399853	0.12760	-3.885	0.22077	T	.	.	0.104	0.19032	B	.;.;.;.	.;.;.;.	2.580225	0.33455	19.34	0.99557993918672083	0.71583	0.67322	0.33391	D	AEFBIJ	0.066942	0.13135	N	-0.383472565238413	0.26057	1.419229	-0.20086488355531	0.31506	1.783649	0.999952262885852	0.48110	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.78	2.52	0.29514	1.030000	0.29760	4.832000	0.45208	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.098:0.3194:0.5826:0.0	8.075	0.29871	449	0.79428	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	723.98	36	chr1	172551552	.	G	A	723.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.003e+00;DP=753;ExcessHet=0.0000;FS=3.433;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=1.20;SOR=0.801	GT:AD:DP:GQ:PL	0/1:32,32:64:99:738,0,807	20	0	1	0
chr1	172555897	172555897	C	T	exonic	SUCO	.	nonsynonymous SNV	SUCO:NM_001282750:exon3:c.C206T:p.P69L	.	.	432	1089	1	0	0	1	0.000458926	.	.	1613905	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.987	D	0.46	P	0.017	N	1.000	D	0.695	N	.	.	-0.999	T	0.093	T	0.288	4.421	23.5	5.87	2.941	3.478	18.072	0.062	0.00233652267326	7.7e-05	.	0.0004	0	0.0025	0	0	0.0002	0.0011	0.0006	0.0003363	52	154602	rs199539904	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0002	0.0018	0.0016	0.0001	0.0021	0.0018	0	0	0.0002	0.0001	0.0006	0.0003	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0002	0.0008	0.0006	4.822e-05	0	0.0012	0.0012	0	0	0	0.0001	0.0014	0	0.17	0.59928	T	0.132	0.60337	T	0.821	0.54515	P	0.179	0.42263	B	0.016851	0.27871	N	0.383936	1	0.81001	D	1.59	0.40313	L	.	.	.	-1.23	0.31170	N	0.319	0.36569	-0.9986	0.30311	T	0.093	0.35255	T	9	0.017297685	0.00368	T	0.002337	0.04535	T	0.062	0.17934	.	.	0.260249123532	0.25628	0.15949043371680247	0.15870	0.148525744174	0.16750	0.259085357189	0.04783	T	0.021771	0.59206	T	-0.370171	0.03585	T	-0.311286	0.43520	T	0.0164917066507624	0.00413	T	0.922808	0.72788	D	0.106800646	0.25254	0.0592877	0.11100	0.106800646	0.25254	0.0592877	0.11100	-3.728	0.22602	T	.	.	0.088	0.11510	B	.;.;.;.	.;.;.;.	4.053162	0.60094	24.2	0.99827676400516607	0.90939	0.95159	0.63654	D	AEFBI	0.283450	0.39655	N	0.368919130899477	0.59745	4.156546	0.465992398496704	0.65749	4.863453	0.999999999809966	0.74766	0.736574	0.97449	0	0.633656	0.55848	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	3.522000	0.53236	4.881000	0.45666	0.530000	0.24713	0.993000	0.37899	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	18.072	0.89338	449	0.79428	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	921.98	35	chr1	172555897	.	C	T	921.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=757;ExcessHet=0.0000;FS=1.974;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=-1.422e+00;SOR=0.972	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr1	172589284	172589284	C	G	exonic	SUCO	.	nonsynonymous SNV	SUCO:NM_001282751:exon16:c.C494G:p.T165S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.087	B	0.03	B	0.000	D	1.000	D	1.825	L	.	.	-0.897	T	0.150	T	0.308	2.794	15.30	5.39	2.517	2.836	17.705	0.049	0.00309354572859	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169757940	3.421e-06	3.42e-06	1.362e-06	5.502e-06	0.0007	1e-06	7.3e-07	0.0002	0.0001	0	0	0	0	0	0.0007	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.38863	T	0.362	0.32675	T	0.028	0.19712	B	0.021	0.19346	B	0.000205	0.47681	D	0.212749	0.999995	0.58761	D	2.595	0.75868	M	.	.	.	-1.06	0.27669	N	0.174	0.18784	-0.8973	0.48264	T	0.150	0.47787	T	9	0.10396212	0.19141	T	0.003094	0.06696	T	0.049	0.13647	.	.	0.215869574891	0.21205	0.200472564064436	0.19964	0.1463930963	0.16524	0.377857744694	0.21952	T	0.202687	0.56093	T	-0.0956576	0.37142	T	-0.274552	0.47359	T	0.358395308256149	0.27347	T	0.677732	0.28664	T	0.076841146	0.17404	0.07832228	0.17532	0.076841146	0.17403	0.07832228	0.17532	-2.494	0.06649	T	.	.	0.128	0.27373	B	.;.;.;.	.;.;.;.	2.020220	0.25669	16.85	0.99098328994493301	0.52396	0.86134	0.45358	D	ALL	0.462452	0.51179	N	0.0717457059724461	0.45148	2.776259	0.228670724764287	0.51444	3.326884	0.999999999999126	0.74766	0.730579	0.87903	0	0.698795	0.70079	0	0.724815	0.87919	0	0.648885	0.59868	0	.	.	5.39	5.39	0.77615	2.897000	0.48363	1.450000	0.26598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	17.705	0.88213	487	0.76954	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2605.98	34	chr1	172589284	.	C	G	2605.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.180e-01;DP=939;ExcessHet=0.0000;FS=3.834;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=-1.211e+00;SOR=0.550	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1188	20	0	1	0
chr1	173873492	173873492	C	A	exonic	ZBTB37	.	nonsynonymous SNV	ZBTB37:NM_001122770:exon4:c.C949A:p.P317T	.	.	427	1090	5	0	0	5	0.00228833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.0	B	0.0	B	0.006	N	1.000	N	0	N	2.61	T	-1.036	T	0.054	T	0.028	-0.009	3.969	2.68	0.778	1.661	2.610	0.063	.	0.0073	0.00199681	0.0056	0.0015	0.0043	0	0.0029	0.0083	0.0066	0.0022	0.0058214	900	154602	rs143211330	0.0079	0.0079	0.0079	0.0078	0.0090	0.0077	0.0077	0.0089	0.0088	0.0013	0.0054	0.0118	0	0.0033	0.0049	0.0090	0.0077	0.0024	0.0061	0.0061	0.0066	0.0056	0.0095	0.0058	0.0057	0.0088	0.0086	0.0019	0.0428	0.0060	0.0092	0.0002	0.0028	0.0034	0.0095	0.0071	0.0012	0.948	0.02156	T	0.447	0.13066	T	0.0	0.02946	B	0.0	0.01387	B	0.006386	0.32067	N	0.366105	1	0.81001	D	0	0.06538	N	2.61	0.73417	T	-0.13	0.08971	N	0.181	0.22998	-1.0365	0.18388	T	0.054	0.23034	T	10	0.0036935508	0.00068	T	.	.	.	0.063	0.18251	.	.	0.287411543184	0.28351	0.402335286515874	0.40149	0.367174557742	0.38278	0.302199393511	0.10730	T	0.009073	0.08280	T	-0.566021	0.00234	T	-0.576431	0.14865	T	0.00819524164983656	0.00098	T	0.809419	0.45992	T	0.038505286	0.05144	0.04298779	0.05245	0.038505286	0.05143	0.04298779	0.05244	-3.042	0.12141	T	.	.	0.093	0.14108	B	.;.;.	.;.;.	1.444469	0.18645	13.85	0.7330960418591258	0.10281	0.76405	0.37469	D	AEFDBI	0.102015	0.20476	N	-0.461328258118561	0.23358	1.253752	-0.245513426869649	0.29926	1.680645	0.971939690587828	0.29328	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.9	2.68	0.30839	1.706000	0.37497	0.565000	0.19549	0.599000	0.40250	0.994000	0.38300	0.997000	0.33255	0.998000	0.85391	0.334:0.3351:0.2424:0.0885	2.610	0.04591	147	0.94143	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1067.98	35	chr1	173873492	.	C	A	1067.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.342e+00;DP=777;ExcessHet=0.0000;FS=1.017;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.95;ReadPosRankSum=1.71;SOR=0.559	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1126	20	0	1	0
chr1	173941317	173941317	G	C	exonic	RC3H1	.	nonsynonymous SNV	RC3H1:NM_001300850:exon18:c.C3199G:p.Q1067E	.	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.241	B	0.204	B	0.000	D	1.000	D	0.695	N	0.82	T	-1.011	T	0.079	T	0.397	3.619	18.42	5.8	2.750	7.907	20.061	0.128	0.0235338632217	.	0.00159744	0.0011	0	0	0	0	0	0	0.0084	0.0009702	150	154602	rs376399576	0.0005	0.0005	0.0003	0.0007	0.0078	0.0005	0.0004	0.0073	0.0071	2.987e-05	0	0	0	0	0.0003	8.994e-07	0.0005	0.0078	0.0003	0.0003	0.0002	0.0004	0.0091	0.0002	0.0002	0.0070	0.0062	0	0	0	0	0	0	0	0	0	0.0091	0.016	0.51853	D	0.69	0.32891	T	0.155	0.30888	B	0.101	0.37039	B	0.000008	0.62929	D	0.149323	0.999991	0.58761	D	0.975	0.24501	L	0.82	0.48460	T	-1.01	0.26639	N	0.515	0.57092	-1.0112	0.26541	T	0.079	0.31375	T	10	0.0073369443	0.00167	T	0.023534	0.46505	T	0.128	0.35103	0.151	0.05441	0.410638578336	0.40681	0.1702399104243784	0.16943	0.335977173325	0.35601	0.463615983725	0.33806	T	0.11535	0.43387	T	-0.392403	0.02595	T	-0.330887	0.41371	T	0.119133828609186	0.14345	T	0.938506	0.77019	D	0.19668484	0.41505	0.33068386	0.58935	0.19668484	0.41505	0.33068386	0.58934	-3.186	0.12310	T	.	.	0.106	0.24157	B	.;.;.	.;.;.	3.840784	0.55578	23.6	0.98932630349299311	0.48769	0.99260	0.93590	D	AEFGBI	0.828811	0.74784	D	0.198572480641229	0.51131	3.296785	0.39409952458946	0.61201	4.316877	0.999999999852983	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.8	5.8	0.92081	8.025000	0.89148	11.854000	0.98159	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.061	0.97676	165	0.93588	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	705.98	33	chr1	173941317	.	G	C	705.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.987;DP=773;ExcessHet=0.0000;FS=1.865;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.72;ReadPosRankSum=-8.750e-01;SOR=0.947	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,103,1406	20	0	1	0
chr1	174394126	174394126	A	T	exonic	RABGAP1L	.	nonsynonymous SNV	RABGAP1L:NM_001366449:exon6:c.A632T:p.Y211F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	1.0	D	1.0	D	0.000	D	1.000	D	1.865	L	-0.6	T	-0.071	T	0.478	T	0.6	4.779	26.9	5.14	1.941	8.826	14.946	0.668	0.105449098092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.0	0.92824	D	0.998	0.90584	D	0.994	0.97372	D	0.000000	0.84330	D	0.000000	0.999998	0.81001	D	1.835	0.48228	L	-0.6	0.71662	T	-3.26	0.66665	D	0.692	0.73826	-0.0709	0.80760	T	0.478	0.79996	T	10	0.93682855	0.93012	D	0.105449	0.78056	D	0.668	0.87674	0.84	0.94602	0.713984128956	0.71147	0.6002426786777262	0.59955	0.862999872533	0.69047	0.731670439243	0.71750	T	0.222932	0.58693	T	0.0887202	0.63044	D	-0.110336	0.62584	T	0.961689293384552	0.66152	D	0.957904	0.92312	D	0.59980077	0.72681	0.27730674	0.53682	0.59980077	0.72682	0.27730674	0.53681	-4.036	0.42674	T	.	.	0.641	0.70572	P	.;.;.;.	.;.;.;.	4.766850	0.77121	26.6	0.98579426752843446	0.43219	0.98751	0.86386	D	AEFBI	0.902770	0.85105	D	0.721997497439311	0.81075	7.437914	0.704922944456869	0.82752	7.845682	0.999968946608237	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.14	5.14	0.70008	8.836000	0.91725	9.310000	0.79951	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	1.0:0.0:0.0:0.0	14.946	0.70685	210	0.91826	.;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;Rab-GTPase-TBC domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	826.98	35	chr1	174394126	.	A	T	826.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.00;DP=751;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=-6.450e-01;SOR=0.665	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr1	175160810	175160810	C	0	exonic	KIAA0040	.	.	.	.	.	430	141	484	211	256	1162	0.762626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	21772.6	79	chr1	175160810	.	C	T,*	21772.6	.	AC=20,9;AF=0.476,0.214;AN=42;BaseQRankSum=0.238;DP=1529;ExcessHet=1.3217;FS=0.603;InbreedingCoeff=-0.0027;MLEAC=20,9;MLEAF=0.476,0.214;MQ=60.00;MQRankSum=0.00;QD=16.26;ReadPosRankSum=1.92;SOR=0.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,29,0:56:99:1|0:175160788_C_CCTT:795,0,941,876,1028,1904:175160788	2	5	6	0
chr1	175337671	175337671	C	A	exonic	TNR	.	nonsynonymous SNV	TNR:NM_001328635:exon19:c.G2392T:p.V798L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.0	B	0.001	B	0.003	N	0.960	D	-1.365	N	2.15	T	-1.006	T	0.014	T	0.064	-0.094	3.537	2.63	0.272	0.704	9.753	0.043	0.00519484893477	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	1.361e-06	4.125e-06	1.159e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.002555	0.36353	N	0.238051	0.959938	0.38153	D	-1.31	0.00704	N	2.15	0.19311	T	1.57	0.00677	N	0.166	0.19728	-1.0056	0.28277	T	0.014	0.05657	T	10	0.06363192	0.08318	T	0.005195	0.13218	T	0.043	0.11576	0.228	0.15406	0.202312658747	0.19855	0.15452108707554538	0.15373	0.740839495751	0.63252	0.382242739201	0.22574	T	0.132507	0.46264	T	-0.366076	0.03798	T	-0.763619	0.02984	T	0.220849245786667	0.21506	T	0.862614	0.55818	D	0.03396132	0.03719	0.054100562	0.09240	0.03396132	0.03719	0.054100562	0.09240	-0.891	0.00886	T	0.059217163281832685	0.01549	0.106	0.19800	B	.;.	.;.	0.512939	0.08815	5.596	0.73731136892457927	0.10434	0.42916	0.26983	N	AEFBI	0.213676	0.33923	N	-0.8535229325803	0.11964	0.5803588	-0.655308059028349	0.18082	0.9644367	5.20025644762403E-5	0.04171	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.58	2.63	0.30420	0.734000	0.25769	0.146000	0.15234	0.599000	0.40250	0.309000	0.25405	0.004000	0.18990	0.941000	0.48210	0.0:0.766:0.0:0.234	9.753	0.39655	647	0.63344	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	773.98	42	chr1	175337671	.	C	A	773.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.010e-01;DP=761;ExcessHet=0.0000;FS=1.105;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=0.754;SOR=1.038	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1217	20	0	1	0
chr1	175403578	175403578	T	G	exonic	TNR	.	nonsynonymous SNV	TNR:NM_003285:exon4:c.A538C:p.N180H,	.	.	415	1091	16	0	0	16	0.00727934	.	.	226705	Parkinson_disease|not_provided	MONDO:MONDO:0005180,MeSH:D010300,MedGen:C0030567,OMIM:PS168600,Orphanet:319705|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.19	T	0.996	D	0.823	P	0.000	D	0.992	D	2.165	M	-0.23	T	-0.348	T	0.333	T	0.264	4.213	21.9	6.02	2.311	7.901	16.206	0.235	0.015143269266	0.0040	0.00219649	0.0043	0.0014	0.0017	0	0.0006	0.0049	0.0033	0.0099	0.0043208	668	154602	rs61731112	0.0055	0.0055	0.0053	0.0056	0.0103	0.0054	0.0053	0.0098	0.0095	0.0007	0.0020	0.0008	0	0.0006	0.0040	0.0059	0.0049	0.0103	0.0034	0.0034	0.0036	0.0033	0.0108	0.0032	0.0031	0.0085	0.0076	0.0010	0	0.0017	0.0009	0	0.0011	0	0.0056	0.0043	0.0108	0.059	0.37536	T	0.004	0.74150	D	0.943	0.53072	P	0.646	0.52296	P	0.000002	0.62929	D	0.099447	0.991967	0.41520	D	2.635	0.77114	M	-0.23	0.66652	T	-3.04	0.62863	D	0.45	0.53181	-0.3481	0.73608	T	0.333	0.70051	T	10	0.012104988	0.00261	T	0.015143	0.35698	T	0.235	0.53788	.	.	0.680615255321	0.67789	0.30089657972397504	0.30002	0.594975163302	0.54791	0.480174928904	0.36081	T	0.706665	0.91599	D	-0.35142	0.04638	T	-0.270886	0.47730	T	0.0187850564752614	0.00590	T	0.90061	0.65471	D	0.3260392	0.55144	0.29151744	0.55177	0.3260392	0.55144	0.29151744	0.55176	-6.494	0.50240	T	.	.	0.151	0.33342	B	.;.	.;.	4.181553	0.62951	24.5	0.99696345106303663	0.80316	0.99641	0.98258	D	AEFDBI	0.943134	0.94859	D	0.711461017713127	0.80383	7.282298	0.738660711939347	0.85306	8.541781	0.738967395217989	0.23180	0.553676	0.25195	0	0.563428	0.19063	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	6.02	6.02	0.97559	7.882000	0.85748	7.911000	0.74030	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	16.206	0.81949	874	0.30607	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1502.98	33	chr1	175403578	.	T	G	1502.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.167e+00;DP=780;ExcessHet=0.0000;FS=1.879;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.70;ReadPosRankSum=-2.540e-01;SOR=0.996	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1296	20	0	1	0
chr1	176710175	176710175	T	C	exonic	PAPPA2	.	nonsynonymous SNV	PAPPA2:NM_020318:exon11:c.T3650C:p.L1217P,	.	.	439	1059	23	1	0	25	0.0116659	0.0002	0.024	696287	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.11	T	0.459	P	0.112	B	0.001	D	1.000	D	1.355	L	4.73	T	-0.709	T	0.005	T	0.436	1.982	12.58	1.94	0.435	0.981	1.382	0.094	.	0.0021	0.00359425	0.0049	0.0003	0.0009	0.0002	0.0032	0.0019	0.0068	0.0262	0.0042173	652	154602	rs61745526	0.0030	0.0030	0.0024	0.0036	0.0230	0.0029	0.0029	0.0222	0.0219	0.0002	0.0012	0.0048	5.039e-05	0.0031	0.0040	0.0017	0.0031	0.0230	0.0022	0.0022	0.0020	0.0024	0.0170	0.0020	0.0019	0.0141	0.0130	0.0003	0	0.0025	0.0058	0	0.0027	0.0034	0.0021	0.0028	0.0170	0.139	0.25768	T	0.113	0.36901	T	0.459	0.36338	P	0.112	0.31615	B	0.000784	0.41772	D	0.292946	0.993073	0.41828	D	1.1	0.28011	L	4.73	0.01620	T	-0.02	0.07299	N	0.451	0.48872	-0.7085	0.60026	T	0.005	0.01578	T	10	0.005887717	0.00132	T	.	.	.	0.094	0.27141	.	.	0.307016933798	0.30308	0.708437537603531	0.70785	0.394741684332	0.40623	0.275438189507	0.06865	T	0.06599	0.32829	T	-0.522437	0.00426	T	-0.504968	0.21832	T	0.0113079434055903	0.00167	T	0.475152	0.14192	T	0.05695342	0.11272	0.07811483	0.17466	0.05695342	0.11271	0.07811483	0.17466	-4.195	0.26679	T	.	.	0.128	0.27252	B	.	.	2.359567	0.30260	18.38	0.98010147429630201	0.37551	0.68985	0.34011	D	AEFI	0.201366	0.32803	N	-0.344567882057387	0.27471	1.50752	-0.262300668550359	0.29350	1.643689	2.80146031325879E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.76	1.94	0.25058	0.579000	0.23490	2.451000	0.32813	-0.157000	0.11712	0.993000	0.37899	1.000000	0.68203	0.687000	0.33748	0.2441:0.094:0.1374:0.5245	1.382	0.02099	713	0.56348	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2736.11	35	chr1	176710175	.	T	C	2736.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.15;DP=855;ExcessHet=0.1072;FS=0.587;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.55;ReadPosRankSum=-3.970e-01;SOR=0.753	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1294	19	0	2	0
chr1	176769739	176769739	C	G	exonic	PAPPA2	.	nonsynonymous SNV	PAPPA2:NM_020318:exon16:c.C4456G:p.L1486V,	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.243	B	0.084	B	0.008	N	1.000	D	1.95	M	0.8	T	-0.965	T	0.128	T	0.332	2.499	14.32	5.26	1.621	3.566	10.686	0.080	0.00598091918837	.	0.00159744	0.0009	0	0	0	0	0	0	0.0066	0.0007568	117	154602	rs529392985	0.0003	0.0003	0.0002	0.0004	0.0048	0.0003	0.0003	0.0044	0.0043	0	0	0	0	0	0.0002	0	0.0004	0.0048	0.0002	0.0002	0.0001	0.0003	0.0062	0.0001	0.0001	0.0045	0.0039	2.406e-05	0	0	0	0	0	0	0	0	0.0062	0.259	0.16628	T	0.281	0.21612	T	0.243	0.30970	B	0.084	0.29270	B	0.008440	0.30846	N	0.266767	0.96783	0.38620	D	2.52	0.73523	M	0.8	0.48769	T	0.15	0.05310	N	0.474	0.50958	-0.9647	0.38270	T	0.128	0.43605	T	10	0.009782225	0.00220	T	0.005981	0.15608	T	0.080	0.23350	0.493	0.58048	0.503186968135	0.49956	0.5397896276182833	0.53903	0.317629529523	0.34004	0.321066856384	0.13583	T	0.277173	0.64978	T	-0.446204	0.01189	T	-0.411799	0.32018	T	0.0794183740579461	0.09912	T	0.871013	0.57621	D	0.07877099	0.17957	0.075339094	0.16576	0.07877099	0.17957	0.075339094	0.16576	-11.632	0.83012	D	.	.	0.143	0.31558	B	.	.	2.028670	0.25781	16.89	0.98961560782221769	0.49344	0.87979	0.47712	D	AEFBI	0.306519	0.41364	N	0.117830961232743	0.47294	2.957223	0.25453870620679	0.52909	3.462572	0.812679377439708	0.24383	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.17	5.26	0.73479	3.643000	0.54109	0.595000	0.19862	0.597000	0.34315	1.000000	0.71638	0.111000	0.22795	0.995000	0.73285	0.0:0.7991:0.1318:0.0691	10.686	0.45039	729	0.54495	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1437.98	42	chr1	176769739	.	C	G	1437.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.02;DP=787;ExcessHet=0.0000;FS=5.161;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.82;ReadPosRankSum=-3.120e-01;SOR=1.205	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1301	20	0	1	0
chr1	176791432	176791432	C	G	exonic	PAPPA2	.	nonsynonymous SNV	PAPPA2:NM_020318:exon19:c.C4970G:p.P1657R,	.	.	430	990	99	3	0	105	0.0503597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.715	P	0.288	B	0.000	D	1.000	D	1.59	L	4.49	T	-0.862	T	0.007	T	0.209	2.275	13.57	4.48	1.236	2.697	11.376	0.093	.	0.0066	0.0101837	0.0138	0.0020	0.0273	0.0001	0.0074	0.0099	0.0122	0.0369	0.0123866	1915	154602	rs34602579	0.0082	0.0082	0.0069	0.0095	0.0386	0.0081	0.0080	0.0375	0.0371	0.0016	0.0228	0.0496	5.041e-05	0.0081	0.0328	0.0044	0.0115	0.0386	0.0079	0.0079	0.0072	0.0085	0.0349	0.0075	0.0073	0.0306	0.0289	0.0024	0.0099	0.0101	0.0498	0.0002	0.0099	0.0171	0.0068	0.0085	0.0349	0.022	0.48642	D	0.112	0.37037	T	0.715	0.42183	P	0.288	0.40614	B	0.000083	0.51296	D	0.130773	0.950107	0.26515	N	2.095	0.58118	M	4.49	0.02049	T	-2.06	0.47175	N	0.413	0.45331	-0.8622	0.51104	T	0.007	0.02399	T	10	0.003267467	0.00056	T	.	.	.	0.093	0.26882	.	.	.	.	0.7269670015442563	0.72640	0.198595925975	0.22241	0.285176694393	0.08225	T	0.24153	0.61007	T	-0.579169	0.00195	T	-0.57685	0.14826	T	0.0218216985432377	0.00889	T	0.50225	0.15758	T	0.059995424	0.12260	0.08987151	0.21042	0.059995424	0.12260	0.08987151	0.21042	-6.562	0.50762	T	.	.	0.077	0.06295	B	.	.	2.220156	0.28336	17.76	0.99272752400622866	0.57627	0.34067	0.24979	N	AEFI	0.189116	0.31638	N	-0.040508235531873	0.40027	2.370191	-0.0519351709435044	0.37406	2.189769	0.012405970498762	0.12323	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.4	4.48	0.53973	2.696000	0.46719	2.603000	0.33533	0.597000	0.34315	0.022000	0.19841	0.025000	0.21018	0.769000	0.36481	0.3268:0.6732:0.0:0.0	11.376	0.48969	701	0.57775	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2631.11	40	chr1	176791432	.	C	G	2631.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-9.000e-02;DP=933;ExcessHet=0.1072;FS=0.985;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=-2.550e-01;SOR=0.626	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	19	0	2	0
chr1	176882938	176882938	T	G	exonic	ASTN1	.	nonsynonymous SNV	ASTN1:NM_001286164:exon20:c.A3283C:p.M1095L	.	.	433	1079	10	0	0	10	0.00461255	.	.	432205	Abnormal_corpus_callosum_morphology|not_provided	Human_Phenotype_Ontology:HP:0001273,Human_Phenotype_Ontology:HP:0007323,MedGen:C1842581|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.07	T	0.257	B	0.557	P	0.000	D	1.000	D	1.39	L	1.16	T	-0.893	T	0.149	T	0.733	4.112	21.2	5.66	2.158	7.517	15.563	0.244	0.0219076341437	0.0028	0.00179712	0.0034	0.0002	0.0005	0.0001	0.0008	0.0042	0.0011	0.0074	0.0034152	528	154602	rs151246825	0.0038	0.0038	0.0037	0.0039	0.0073	0.0037	0.0037	0.0065	0.0063	0.0002	0.0013	0.0098	0	0.0009	0.0073	0.0039	0.0036	0.0069	0.0027	0.0027	0.0030	0.0025	0.0075	0.0025	0.0024	0.0056	0.0049	0.0006	0.0154	0.0010	0.0121	0	0.0006	0	0.0040	0.0038	0.0075	0.088	0.32453	T	0.462	0.12920	T	0.257	0.31412	B	0.557	0.49454	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.16	0.38073	T	-0.74	0.21215	N	0.626	0.73105	-0.8932	0.48650	T	0.149	0.47522	T	10	0.007880479	0.00179	T	0.021908	0.44740	T	0.244	0.55061	0.117	0.02508	0.372124015043	0.36827	0.4848574118172497	0.48405	0.549024000067	0.51818	0.6371986866	0.58165	T	0.047437	0.27724	T	-0.266181	0.12185	T	-0.144739	0.59705	T	0.039071109360196	0.03523	T	0.892511	0.62902	D	.	.	.	.	.	.	.	.	0.359	0.00303	T	.	.	0.200	0.47976	B	.;.;.	.;.;.	3.680631	0.52392	23.2	0.98164354846962953	0.38806	0.97791	0.77159	D	AEFBI	0.907875	0.86244	D	0.276562724713296	0.54964	3.660826	0.380292540366266	0.60350	4.221636	0.999999939014487	0.74766	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.66	5.66	0.87293	7.603000	0.82048	7.877000	0.72286	0.607000	0.46521	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	15.563	0.76010	678	0.60190	Fibronectin type III;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1615.98	36	chr1	176882938	.	T	G	1615.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.930e-01;DP=827;ExcessHet=0.0000;FS=1.384;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=-9.070e-01;SOR=0.851	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1282	20	0	1	0
chr1	177939725	177939725	G	A	exonic	CRYZL2P-SEC16B;SEC16B	.	nonsynonymous SNV	SEC16B:NM_001356500:exon17:c.C1157T:p.S386L	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.047	B	0.004	B	0.154	N	1.000	N	0.895	L	2.4	T	-1.026	T	0.009	T	0.03	0.473	6.566	-4.96	-0.840	-0.358	2.779	0.047	.	0.0008	0.00359425	0.0007	0.0061	0.0008	0	0	0.0001	0	0	0.0004592	71	154602	rs12074076	0.0003	0.0003	0.0003	0.0002	0.0065	0.0002	0.0002	0.0058	0.0055	0.0065	0.0006	0	0	0	0.0021	5.532e-05	0.0007	0.0001	0.0016	0.0016	0.0015	0.0016	0.0049	0.0014	0.0013	0.0044	0.0041	0.0049	0	0.0014	0	0	0	0	7.351e-05	0.0033	0.0002	0.173	0.22573	T	0.497	0.11299	T	0.003	0.11197	B	0.001	0.04355	B	0.153702	0.02983	N	1.657110	1	0.08975	N	1.295	0.32453	L	2.4	0.15608	T	-1.29	0.32387	N	0.063	0.03502	-1.0258	0.21821	T	0.009	0.03271	T	10	0.0039038062	0.00074	T	.	.	.	0.047	0.12962	.	.	0.167679373172	0.16340	0.14825459161405144	0.14747	0.0361349943124	0.03815	0.272900462151	0.06523	T	0.007829	0.07211	T	-0.740504	0.00020	T	-0.836055	0.01160	T	0.00180212191713534	0.00018	T	0.488951	0.15001	T	0.03250671	0.03290	0.044676922	0.05841	0.03250671	0.03290	0.044676922	0.05841	-4.376	0.29230	T	.	.	0.065	0.01859	B	.	.	0.221157	0.06035	2.477	0.71654630811542386	0.09703	0.01237	0.04368	N	AEFBI	0.136291	0.25691	N	-1.16447069612799	0.05545	0.2530986	-1.25518267453229	0.05054	0.2399495	0.757080638561288	0.23451	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.07	-4.96	0.02812	-0.292000	0.08368	-0.467000	0.09002	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.53:0.1263:0.2079:0.1358	2.779	0.05027	843	0.36859	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	507.98	33	chr1	177939725	.	G	A	507.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=864;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.70;ReadPosRankSum=-2.490e-01;SOR=0.807	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr1	178514733	178514733	C	T	exonic	TEX35	.	nonsynonymous SNV	TEX35:NM_001170722:exon3:c.C148T:p.R50W	.	.	426	1083	13	0	0	13	0.00596604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.949	P	0.533	P	0.430	N	0.999	N	0.895	L	2.2	T	-1.045	T	0.081	T	0.271	0.994	9.059	1.75	0.513	0.939	9.809	0.057	.	0.0045	0.00399361	0.0060	0.0013	0.0057	0	0.0108	0.0076	0.0070	0.0037	0.0053945	834	154602	rs144999625	0.0062	0.0062	0.0062	0.0062	0.0075	0.0061	0.0060	0.0064	0.0064	0.0007	0.0061	0.0086	7.558e-05	0.0092	0.0075	0.0066	0.0068	0.0033	0.0052	0.0052	0.0049	0.0054	0.0086	0.0049	0.0048	0.0074	0.0070	0.0016	0.0011	0.0086	0.0098	0	0.0091	0.0068	0.0062	0.0090	0.0025	0.04	0.45039	D	0.038	0.53788	D	0.949	0.53761	P	0.431	0.48638	B	0.429817	0.12762	N	0.645994	0.999999	0.22098	N	0	0.06538	N	2.2	0.50192	T	-1.71	0.55339	N	0.214	0.28264	-1.0453	0.15738	T	0.081	0.31913	T	10	0.0052550733	0.00115	T	.	.	.	0.057	0.16321	.	.	0.284150004643	0.28039	0.017887348145770147	0.01743	0.330932626544	0.35172	0.275729805231	0.06904	T	0.019	0.15525	T	-0.522219	0.00427	T	-0.517217	0.20576	T	0.0134876583169153	0.00246	T	0.867113	0.56785	D	0.032599952	0.03316	0.04527947	0.06056	0.032599952	0.03316	0.04527947	0.06056	-5.48	0.41681	T	.	.	0.148	0.33732	B	.;.;.;.;.	.;.;.;.;.	2.959437	0.39404	21.0	0.99503782940323104	0.68206	0.26253	0.22939	N	AEFDGBCI	0.175344	0.30251	N	-0.305526412320958	0.28937	1.600369	-0.428621174827072	0.24161	1.321558	0.424570754903303	0.20319	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.72	1.75	0.23707	0.946000	0.28667	0.158000	0.15372	-0.850000	0.02721	0.716000	0.28781	0.005000	0.19230	0.002000	0.04165	0.0:0.589:0.411:0.0	9.809	0.39978	806	0.43582	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1583.98	34	chr1	178514733	.	C	T	1583.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=0.435;SOR=0.717	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1168	20	0	1	0
chr1	178521252	178521252	A	G	exonic	TEX35	.	nonsynonymous SNV	TEX35:NM_001170722:exon8:c.A598G:p.N200D	.	.	424	1087	10	1	0	12	0.00548948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.557	P	0.167	B	0.020	N	1.000	N	1.445	L	2.16	T	-0.971	T	0.106	T	0.124	0.968	8.949	1.13	0.817	1.608	5.301	0.041	0.0350489334889	0.0019	0.000998403	0.0029	0.0002	0.0052	0.0001	0.0003	0.0036	0.0099	0.0023	0.0027231	421	154602	rs35619308	0.0025	0.0025	0.0024	0.0025	0.0054	0.0024	0.0024	0.0039	0.0034	0.0002	0.0037	0.0170	2.519e-05	0.0011	0.0054	0.0022	0.0034	0.0023	0.0024	0.0024	0.0025	0.0023	0.0024	0.0022	0.0021	0.0021	0.0019	0.0004	0.0626	0.0024	0.0196	0.0002	0.0010	0	0.0024	0.0038	0.0017	0.014	0.53172	D	0.049	0.48336	D	0.557	0.38282	P	0.117	0.35118	B	0.019846	0.27167	N	0.264306	1	0.08975	N	0.895	0.22405	L	2.16	0.19166	T	-3.27	0.65512	D	0.484	0.67736	-0.9711	0.36967	T	0.106	0.38709	T	10	0.0051191747	0.00111	T	0.035049	0.56085	D	0.041	0.10877	.	.	0.328222422547	0.32431	0.05186873901639505	0.05128	0.45569561793	0.45240	0.376475811005	0.21756	T	0.018851	0.15125	T	-0.591496	0.00164	T	-0.624525	0.10833	T	0.0479193392864445	0.05130	T	0.686431	0.29515	T	0.20776632	0.42993	0.17991318	0.40757	0.20776632	0.42992	0.17991318	0.40756	-3.75	0.21674	T	.	.	0.159	0.39999	B	.;.;.	.;.;.	3.830527	0.55368	23.6	0.88047011661222241	0.17676	0.32484	0.24597	N	AEFBI	0.095661	0.19325	N	-0.0685080950234173	0.38780	2.276583	-0.0925411970727767	0.35698	2.068348	0.139201849582681	0.17241	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.96	1.13	0.19758	1.595000	0.36318	7.553000	0.60314	0.691000	0.84096	0.975000	0.34726	1.000000	0.68203	0.951000	0.49849	0.4768:0.3528:0.0:0.1703	5.301	0.15087	804	0.43891	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1995.98	34	chr1	178521252	.	A	G	1995.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.170;DP=937;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.45;ReadPosRankSum=0.733;SOR=0.662	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1454	20	0	1	0
chr1	178522411	178522411	G	T	exonic	TEX35	.	nonsynonymous SNV	TEX35:NM_032126:exon9:c.G673T:p.A225S,	.	.	.	.	.	.	.	.	.	.	.	2352017	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.4	T	0.012	B	0.017	B	.	.	1.000	N	0.69	N	2.04	T	-0.978	T	0.027	T	0.218	0.983	9.015	0.716	0.192	0.030	2.790	0.014	0.00233225629227	0.0002	.	0.0001	0	0.0004	0	0	0.0001	0	0	5.82e-05	9	154602	rs148791663	1.378e-05	1.847e-05	1.505e-05	1.249e-05	0.0003	9e-06	7.32e-06	0.0002	0.0001	0	0.0003	0	0	0	0.0002	4.519e-06	1.667e-05	1.194e-05	4.594e-05	4.593e-05	6.422e-05	2.685e-05	0.0002	2.107e-05	1.525e-05	5.277e-05	2.833e-05	0	0	0.0002	0	0	0	0	4.409e-05	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	0.012	0.16265	B	0.017	0.18140	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.04	0.20808	T	-0.39	0.13611	N	0.08	0.05542	-0.9776	0.35548	T	0.027	0.11485	T	9	0.040319324	0.02591	T	0.002332	0.04507	T	0.014	0.01968	.	.	0.0138822411134	0.00435	0.013954037740291124	0.01352	0.0800241335068	0.09004	0.234284922481	0.02300	T	0.001901	0.01317	T	-0.480521	0.00734	T	-0.609939	0.11990	T	0.0337817037064786	0.02601	T	0.324967	0.06659	T	0.07162713	0.15872	0.07673052	0.17024	0.07162713	0.15872	0.07673052	0.17024	-3.164	0.12046	T	.	.	0.097	0.16010	B	.	.	0.131579	0.05272	1.770	0.87294421919152354	0.17125	0.03115	0.08055	N	AEFDBI	0.035549	0.04594	N	-1.26013826106678	0.04167	0.1875696	-1.30880755173663	0.04315	0.2032808	0.127738160111202	0.17026	0.487112	0.14033	0	0.55458	0.17659	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.73	0.716	0.17347	0.011000	0.13162	-0.016000	0.12991	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1645:0.0:0.559:0.2764	2.790	0.05053	804	0.43891	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	976.98	41	chr1	178522411	.	G	T	976.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.634e+00;DP=776;ExcessHet=0.0000;FS=4.207;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.91;ReadPosRankSum=1.18;SOR=1.179	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1246	20	0	1	0
chr1	178865020	178865020	G	A	exonic	ANGPTL1	.	nonsynonymous SNV	ANGPTL1:NM_001376763:exon2:c.C757T:p.P253S	.	.	431	1073	18	0	0	18	0.00831793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9	T	0.245	B	0.032	B	0.009	N	1.000	D	1.7	L	0.59	T	-0.956	T	0.125	T	0.356	1.821	12.05	4.41	1.381	5.474	16.152	0.121	0.0102737381831	0.0018	0.00159744	0.0016	0.0004	0.0022	0	0.0002	0.0019	0.0051	0.0020	0.001313	203	154602	rs138256408	0.0014	0.0014	0.0013	0.0015	0.0105	0.0014	0.0013	0.0083	0.0075	0.0002	0.0018	0.0062	0	8.181e-05	0.0105	0.0013	0.0018	0.0026	0.0015	0.0015	0.0012	0.0017	0.0050	0.0013	0.0012	0.0041	0.0037	0.0002	0	0.0050	0.0063	0	0	0.0034	0.0014	0.0033	0.0025	0.36	0.11919	T	0.259	0.23097	T	0.245	0.31074	B	0.032	0.22131	B	0.009072	0.30531	N	0.336727	0.999991	0.81001	D	1.995	0.54099	M	0.59	0.53943	T	0.4	0.03463	N	0.412	0.46555	-0.9558	0.39952	T	0.125	0.43028	T	10	0.005987823	0.00134	T	0.010274	0.26610	T	0.121	0.33580	.	.	0.64125479947	0.63829	0.6034380268883854	0.60274	0.0901073495918	0.10162	0.39449185133	0.24300	T	0.06872	0.33530	T	-0.402891	0.02216	T	-0.357359	0.38358	T	0.013583099000501	0.00251	T	0.873613	0.58243	D	0.05064917	0.09181	0.087473966	0.20334	0.05064917	0.09181	0.087473966	0.20333	-3.536	0.16940	T	.	.	0.075	0.05447	B	.;.	.;.	2.219682	0.28328	17.76	0.95089269561520429	0.26151	0.99297	0.94124	D	AEFBI	0.768811	0.70426	D	-0.272137197756959	0.30228	1.683532	-0.122153702378769	0.34497	1.985085	0.999998846714514	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.32	4.41	0.52588	5.959000	0.70057	6.764000	0.56543	-0.110000	0.15115	1.000000	0.71638	1.000000	0.68203	0.940000	0.48062	0.0:0.1339:0.8661:0.0	16.152	0.81438	450	0.79359	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	696.98	36	chr1	178865020	.	G	A	696.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.000e-03;DP=754;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=-2.220e-01;SOR=0.665	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1308	20	0	1	0
chr1	179087996	179087996	C	T	exonic	TOR3A	.	nonsynonymous SNV	TOR3A:NM_022371:exon4:c.C725T:p.P242L,	.	.	412	1108	2	0	0	2	0.000901713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.989	D	0.791	P	0.000	D	1.000	D	3.07	M	1.4	T	-0.658	T	0.202	T	0.324	2.808	15.35	4.42	1.241	2.357	8.342	0.227	0.0974155190817	.	0.000199681	0.0001	0	0	0	0.0003	6.03e-05	0	0.0004	9.06e-05	14	154602	rs546288971	8.006e-05	8.14e-05	2.723e-05	0.0001	0.0008	6.803e-05	6.357e-05	0.0007	0.0006	0	0	0	0	0.0003	0.0005	1.709e-05	0.0001	0.0008	7.221e-05	7.217e-05	3.854e-05	0.0001	0.0006	3.968e-05	3.125e-05	0.0002	8.985e-05	0	0	0	0	0	0.0005	0	4.41e-05	0	0.0006	0.005	0.63226	D	0.011	0.64786	D	0.989	0.62824	D	0.791	0.57754	P	0.000097	0.51296	D	0.174679	1	0.81001	D	3.54	0.93167	H	1.4	0.33630	T	-6.96	0.93509	D	0.234	0.29429	-0.6584	0.62346	T	0.202	0.55933	T	10	0.19838926	0.35807	T	0.097416	0.76770	D	0.227	0.52620	0.573	0.69695	0.570790795014	0.56744	0.6678901037297662	0.66727	0.303287657907	0.32650	0.439022421837	0.30443	T	0.303937	0.67627	T	-0.352006	0.04602	T	-0.355113	0.38618	T	0.380610548070494	0.28206	T	0.845015	0.52334	T	0.19701724	0.41550	0.1848789	0.41567	0.19701724	0.41550	0.1848789	0.41567	-8.427	0.66138	D	.	.	0.106	0.26451	B	.;.;.	.;.;.	3.549879	0.49897	22.9	0.99684273013473856	0.79507	0.80646	0.40230	D	AEFDBHCI	0.584701	0.58342	D	0.400768499213686	0.61464	4.347979	0.279115994315909	0.54321	3.597486	0.999999999999284	0.74766	0.730579	0.87903	0	0.698795	0.70079	0	0.749866	0.98131	0	0.648885	0.59868	0	.	.	5.33	4.42	0.52775	1.931000	0.39763	4.001000	0.41074	-0.176000	0.10722	0.193000	0.24225	0.999000	0.35428	0.571000	0.30675	0.153:0.7685:0.0:0.0785	8.342	0.31413	488	0.76887	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	798.98	35	chr1	179087996	.	C	T	798.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.050e-01;DP=799;ExcessHet=0.0000;FS=1.683;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.50;ReadPosRankSum=-4.930e-01;SOR=0.531	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr1	179108917	179108917	T	A	exonic	ABL2	.	nonsynonymous SNV	ABL2:NM_001168236:exon11:c.A2287T:p.T763S	Leukemia, acute myeloid, with eosinophilia (1)	.	438	1075	8	1	0	10	0.00462963	.	.	718409	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.41	T	0.998	D	0.987	D	0.000	D	1.000	D	0.805	L	3.03	T	-1.037	T	0.029	T	0.459	3.125	16.45	5.78	2.204	7.510	15.300	0.142	0.0103572274	0.0035	0.000798722	0.0031	0.0007	0.0016	0	0.0032	0.0045	0.0044	0.0018	0.0030724	475	154602	rs55892721	0.0034	0.0034	0.0035	0.0034	0.0078	0.0034	0.0033	0.0060	0.0054	0.0005	0.0015	0.0138	2.519e-05	0.0050	0.0078	0.0035	0.0032	0.0016	0.0029	0.0029	0.0027	0.0032	0.0037	0.0027	0.0026	0.0033	0.0032	0.0007	0	0.0037	0.0130	0.0002	0.0042	0	0.0037	0.0038	0.0019	0.2	0.20532	T	0.785	0.04603	T	0.89	0.73220	P	0.612	0.77487	P	0.000220	0.47681	D	0.000000	0.999999	0.81001	D	0.55	0.14455	N	3.03	0.08898	T	-0.28	0.11547	N	0.502	0.53445	-1.0374	0.18109	T	0.029	0.12409	T	10	0.008987635	0.00203	T	0.010357	0.26807	T	0.142	0.37995	.	.	0.79425411819	0.79233	0.16349573909045567	0.16269	0.589710923309	0.54456	0.717092633247	0.69623	T	0.057057	0.30459	T	-0.448273	0.01156	T	-0.416697	0.31455	T	0.0185296587298947	0.00569	T	0.874113	0.58433	D	0.10285268	0.24306	0.09276151	0.21876	0.10285268	0.24306	0.09276151	0.21875	-2.823	0.08548	T	.	.	0.418	0.75767	A	.;.;.	.;.;.	4.182191	0.62963	24.5	0.99411368373077458	0.63310	0.96900	0.71553	D	AEFDBCI	0.858039	0.77548	D	0.493611682990421	0.66716	4.986188	0.570575649094544	0.72841	5.873663	0.999999995203017	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.463624	0.06942	0	0.711	0.71501	0	.	.	5.78	5.78	0.91418	5.726000	0.68163	7.772000	0.68491	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.300	0.73648	488	0.76887	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3662.98	33	chr1	179108917	.	T	A	3662.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.190e-01;DP=1021;ExcessHet=0.0000;FS=2.574;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.09;ReadPosRankSum=-1.548e+00;SOR=0.549	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr1	179109277	179109277	T	A	exonic	ABL2	.	nonsynonymous SNV	ABL2:NM_001168236:exon11:c.A1927T:p.T643S	Leukemia, acute myeloid, with eosinophilia (1)	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.925	P	0.644	P	0.000	D	1.000	D	1.1	L	2.31	T	-1.122	T	0.051	T	0.255	1.933	12.42	5.57	2.126	3.225	11.004	0.052	0.00542800391225	.	.	7.413e-05	0	0	0	0	8.991e-05	0	0.0002	6.47e-05	10	154602	rs141450341	7.935e-05	7.935e-05	7.351e-05	8.526e-05	0.0009	6.734e-05	6.267e-05	0.0003	0.0002	0	0	0.0013	0	0	0.0009	4.946e-05	9.938e-05	0.0002	4.604e-05	4.597e-05	3.857e-05	5.387e-05	0.0002	2.111e-05	1.528e-05	1.171e-05	6.25e-06	0	0	0	0.0006	0	0	0	4.412e-05	0.0005	0.0002	0.008	0.59928	D	0.064	0.56640	T	0.779	0.51395	P	0.194	0.52249	B	0.000052	0.53742	D	0.000000	0.964194	0.38392	D	0.695	0.17993	N	2.31	0.16794	T	-1.29	0.32387	N	0.25	0.38541	-1.1217	0.02227	T	0.051	0.21883	T	10	0.106054425	0.19635	T	0.005428	0.13954	T	0.052	0.14661	0.155	0.05858	0.879254406514	0.87807	0.2142562127953126	0.21341	0.137642060702	0.15518	0.552852511406	0.46260	T	0.105382	0.41579	T	-0.370956	0.03545	T	-0.496329	0.22728	T	0.0961064311986912	0.11922	T	0.873613	0.63576	D	0.14823571	0.33850	0.14026311	0.33440	0.14823571	0.33850	0.14026311	0.33440	-5.071	0.37674	T	.	.	0.127	0.54019	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.175338	0.43079	21.7	0.98612384348659088	0.43664	0.98346	0.81852	D	AEFDBI	0.487417	0.52617	N	0.226773287974403	0.52501	3.423763	0.335240327739351	0.57623	3.928728	0.999940926034198	0.47345	0.67177	0.52595	0	0.546412	0.12157	0	0.608884	0.39905	0	0.711	0.71501	0	.	.	5.57	5.57	0.84021	3.832000	0.55485	4.119000	0.41963	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.1558:0.8442	11.004	0.46837	488	0.76887	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2130.98	33	chr1	179109277	.	T	A	2130.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.243;DP=904;ExcessHet=0.0000;FS=1.202;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.25;ReadPosRankSum=-1.304e+00;SOR=0.811	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr1	179302685	179302685	A	G	exonic	SOAT1	.	startloss	SOAT1:NM_003101:exon2:c.A1G:p.M1?,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.0	B	0.001	B	0.553	N	0.757	N	.	.	1.54	T	-1.044	T	0.051	T	0.564	0.350	5.898	3.02	0.929	0.784	6.413	0.202	0.00683679820324	7.7e-05	.	1.719e-05	0	0	0	0	3.055e-05	0	0	1.29e-05	2	154602	rs145608664	6.24e-06	6.157e-06	6.901e-06	5.573e-06	8.14e-06	2.94e-06	2.13e-06	3.83e-06	2.77e-06	0	0	0	0	0	0	8.14e-06	0	0	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	0.068	0.37536	T	0.189	0.34124	T	0.0	0.02946	B	0.001	0.04355	B	0.552674	0.11420	N	0.747577	0.756731	0.33991	D	.	.	.	1.54	0.30133	T	-1.07	0.27876	N	0.518	0.54845	-1.0443	0.16030	T	0.051	0.21883	T	9	0.16294926	0.30526	T	0.006837	0.18093	T	0.202	0.48754	.	.	0.241078983079	0.23725	0.2640250756215701	0.26315	.	.	.	.	.	0.399277	0.75716	T	-0.148669	0.28520	T	-0.431058	0.29815	T	0.031007869169116	0.02148	T	0.9	0.65058	D	0.112384036	0.26550	0.14208783	0.33814	0.112384036	0.26550	0.14208783	0.33813	-8.968	0.67491	D	.	.	.	.	.	.;.	.;.	1.861063	0.23640	16.10	0.88005720647172225	0.17645	0.18191	0.20157	N	AEFDBI	0.011843	0.00114	N	-0.559595335854848	0.20183	1.062155	-0.545879697982884	0.20915	1.129026	0.99809007408062	0.36419	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.14	3.02	0.33970	0.798000	0.26674	1.155000	0.24510	0.756000	0.94297	0.569000	0.27497	0.078000	0.22336	0.537000	0.29868	0.8904:0.0:0.1096:0.0	6.413	0.20907	554	0.71839	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	683.98	34	chr1	179302685	.	A	G	683.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=-1.290e-01;SOR=0.622	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1075	20	0	1	0
chr1	179882614	179882614	G	A	exonic	TOR1AIP1	.	nonsynonymous SNV	TOR1AIP1:NM_001267578:exon1:c.G112A:p.G38S	.	.	433	1087	2	0	0	2	0.000919118	.	.	941585	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Y	MONDO:MONDO:0014900,MedGen:C4511482,OMIM:617072,Orphanet:424261	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.774	P	0.074	B	0.365	N	0.984	N	0.895	L	1.84	T	-1.069	T	0.034	T	0.095	2.990	15.97	3.09	0.550	1.240	8.259	0.023	0.00864751252466	.	.	3.429e-05	0	0.0001	0	0	3.915e-05	0	0	1.94e-05	3	154602	rs777102321	1.162e-05	1.3e-05	7.138e-06	1.625e-05	0.0004	6.88e-06	5.57e-06	6.716e-05	2.716e-05	0	0.0001	0	0	0	0.0004	6.524e-06	3.535e-05	1.388e-05	6.582e-06	6.568e-06	0	1.347e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.14	0.27080	T	0.22	0.48855	T	0.774	0.44062	P	0.074	0.28220	B	0.364775	0.13616	N	0.671859	0.983751	0.24858	N	1.5	0.37844	L	1.82	0.25018	T	-1.0	0.27463	N	0.081	0.13484	-1.0691	0.09612	T	0.034	0.14509	T	10	0.10700747	0.19856	T	0.008648	0.22854	T	0.023	0.04649	.	.	0.470237251169	0.46650	0.05461676271458267	0.05403	0.103935340526	0.11761	0.434152543545	0.29776	T	0.064756	0.32516	T	-0.349815	0.04739	T	-0.470961	0.25413	T	0.231332957744598	0.22015	T	0.782522	0.42665	T	0.07109999	0.15715	0.124070354	0.29911	0.07109999	0.15715	0.124070354	0.29910	-3.111	0.11551	T	.	.	0.085	0.12655	B	.;.;.	.;.;.	2.614252	0.33961	19.49	0.99504747785872283	0.68264	0.63274	0.32038	D	ALL	0.255293	0.37444	N	-0.0696736323918952	0.38729	2.272762	0.000471346348360373	0.39738	2.360767	1.0	0.98316	0.024636	0.00146	3	0.218748	0.04544	0	0.289072	0.05449	1	0.249971	0.05119	0	.	.	5.18	3.09	0.34677	1.264000	0.32618	4.155000	0.42174	0.672000	0.70159	0.998000	0.41325	1.000000	0.68203	0.921000	0.45669	0.2041:0.0:0.7959:0.0	8.259	0.30931	415	0.81806	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1027.98	39	chr1	179882614	.	G	A	1027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.97;DP=838;ExcessHet=0.0000;FS=0.940;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.71;ReadPosRankSum=-2.666e+00;SOR=0.551	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1334	20	0	1	0
chr1	179903964	179903964	A	C	splicing	TOR1AIP1	NM_001267578:exon6:c.743-2A>C;NM_015602:exon6:c.740-2A>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.879	D	.	.	.	.	.	.	.	.	.	0.905	8.680	3.14	1.963	2.159	6.691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.878549	0.35703	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.256537	0.13309	T	-0.606274	0.12289	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	4.233948	0.64133	24.7	0.80054460604190703	0.13023	0.68779	0.33932	D	AEFBI	.	.	.	0.627468078035172	0.74919	6.21507	0.341725435525886	0.58011	3.969298	0.389250930296501	0.20031	0.295142	0.05270	0	0.30413	0.05452	0	0.060301	0.00762	0	0.089874	0.02613	0	0.187005	0.29800	4.36	3.14	0.35196	2.145000	0.41830	4.074000	0.41688	0.756000	0.94297	0.987000	0.36337	0.918000	0.28264	0.821000	0.38685	0.7895:0.0:0.0:0.2105	6.691	0.22360	418	0.81602	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	528.34	34	chr1	179903964	.	A	C	528.34	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.394e+00;DP=1049;ExcessHet=1.7912;FS=123.470;InbreedingCoeff=-0.1775;MLEAC=6;MLEAF=0.150;MQ=59.88;MQRankSum=0.00;QD=1.26;ReadPosRankSum=1.52;SOR=8.977	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:51,0:51:0:.:.:0,0,917	14	0	6	1
chr1	179990615	179990615	A	G	exonic	CEP350	.	nonsynonymous SNV	CEP350:NM_014810:exon4:c.A229G:p.R77G,	.	.	449	1071	2	0	0	2	0.000932836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.993	D	0.921	D	0.000	D	0.998	D	0.895	L	0.24	T	-0.836	T	0.172	T	0.829	3.330	17.21	4.3	0.986	3.532	11.376	0.295	0.102077117398	0.0045	0.000798722	0.0046	0.0015	0.0043	0	0.0011	0.0077	0.0043	0.0001	0.0028654	443	154602	rs140306241	0.0051	0.0051	0.0053	0.0049	0.0061	0.0050	0.0049	0.0059	0.0059	0.0007	0.0024	0.0076	0	0.0014	0.0004	0.0061	0.0045	7.422e-05	0.0034	0.0034	0.0037	0.0031	0.0057	0.0032	0.0031	0.0052	0.0050	0.0012	0	0.0020	0.0066	0	0.0015	0	0.0057	0.0052	0	0.002	0.72154	D	0.023	0.92824	D	0.985	0.61118	D	0.921	0.65636	D	0.000111	0.50451	D	0.000000	0.997931	0.44335	D	2.36	0.67893	M	0.24	0.59583	T	-2.59	0.92346	D	0.784	0.78072	-0.8358	0.52924	T	0.172	0.51373	T	9	0.007857263	0.00178	T	0.102077	0.77533	D	0.295	0.61502	.	.	0.59943670487	0.59624	0.15869044678275998	0.15790	0.448914845135	0.44705	0.56677031517	0.48221	T	0.019134	0.15298	T	-0.127953	0.31827	T	0.0454857	0.73286	D	0.0241365490804345	0.01162	T	0.868313	0.63671	D	0.25374287	0.48398	0.2988034	0.55914	0.25374287	0.48398	0.2988034	0.55913	-3.562	0.17310	T	.	.	0.812	0.77831	P	.;.	.;.	3.790772	0.54561	23.5	0.99777527976636515	0.86433	0.93704	0.58953	D	AEFBI	0.395205	0.47216	N	0.344794945917139	0.58463	4.018916	0.360510886381449	0.59142	4.089789	0.0328217239026727	0.14074	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.45	4.3	0.50540	3.541000	0.53373	6.972000	0.57094	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.7108:0.2892:0.0:0.0	11.376	0.48967	185	0.92771	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	471.98	35	chr1	179990615	.	A	G	471.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.350e-01;DP=627;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.75;ReadPosRankSum=0.643;SOR=0.665	GT:AD:DP:GQ:PL	0/0:25,0:25:66:0,66,990	20	0	1	0
chr1	179996909	179996909	C	T	exonic	CEP350	.	nonsynonymous SNV	CEP350:NM_014810:exon6:c.C752T:p.A251V,	.	.	430	1091	0	1	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.078	N	1.000	N	-0.695	N	2.14	T	-0.986	T	0.015	T	0.14	-0.931	0.376	2.93	0.333	-0.247	2.242	0.027	0.00630035234136	0.0002	0.000199681	0.0001	0	0	0	0	0.0001	0.0022	0.0004	0.0001164	18	154602	rs149644649	9.373e-05	9.44e-05	0.0001	8.664e-05	0.0003	8.093e-05	7.585e-05	0.0002	0.0002	2.987e-05	2.236e-05	0	0	3.746e-05	0.0002	8.904e-05	0.0001	0.0003	5.91e-05	5.906e-05	5.141e-05	6.713e-05	0.0002	3.075e-05	2.209e-05	5.842e-05	4.239e-05	0	0	0	0	0	0	0	0.0001	0	0.0002	1.0	0.11550	T	0.557	0.09205	T	0.0	0.02946	B	0.0	0.01387	B	0.077739	0.21086	N	0.335465	1	0.08975	N	-1.87	0.00254	N	2.14	0.19450	T	0.67	0.02263	N	0.093	0.07262	-0.9859	0.33615	T	0.015	0.06138	T	9	0.0075332224	0.00171	T	0.006	0.16551	T	0.027	0.05988	.	.	0.0675242888579	0.06100	0.050824412617870074	0.05024	0.0675433162862	0.07553	0.321871310472	0.13705	T	0.003862	0.03272	T	-0.546902	0.00304	T	-0.712845	0.05149	T	0.0247158167057292	0.01235	T	0.410359	0.14930	T	0.02306487	0.01016	0.033250574	0.02190	0.02306487	0.01016	0.033250574	0.02189	-3.115	0.11469	T	.	.	0.051	0.00183	B	.;.	.;.	0.426718	0.07970	4.685	0.6903592203035307	0.08844	0.01923	0.05872	N	AEFBI	0.026207	0.01926	N	-1.05339858936749	0.07521	0.3496577	-0.889446620208868	0.12343	0.6343766	0.998633968388086	0.37351	0.489673	0.17934	0	0.71359	0.82159	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	5.47	2.93	0.33092	-0.182000	0.09720	0.940000	0.22845	-1.687000	0.00777	0.088000	0.22533	1.000000	0.68203	0.415000	0.27117	0.1469:0.0844:0.3038:0.4649	2.242	0.03777	185	0.92771	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2164.98	33	chr1	179996909	.	C	T	2164.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=877;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=-1.258e+00;SOR=0.653	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1029	20	0	1	0
chr1	180014239	180014239	G	C	exonic	CEP350	.	nonsynonymous SNV	CEP350:NM_014810:exon10:c.G1786C:p.V596L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.991	D	0.000	D	1.000	D	2.24	M	-2.57	D	0.672	D	0.818	D	0.871	5.044	29.9	5.6	2.788	9.092	19.577	0.565	0.138735317183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.131	0.34596	T	0.997	0.70673	D	0.933	0.66815	D	0.000494	0.43931	D	0.000000	1	0.81001	D	2.515	0.73286	M	-2.57	0.89692	D	-1.93	0.44852	N	0.804	0.79986	0.672	0.92822	D	0.818	0.93855	D	9	0.7784072	0.77650	D	0.138735	0.82122	D	0.565	0.82232	0.251	0.18912	0.933423527662	0.93273	0.2305698346646848	0.22971	0.406491481352	0.41524	0.817128300667	0.84587	D	0.124088	0.44888	T	0.411747	0.90578	D	0.353669	0.90461	D	0.993486225605011	0.84301	D	0.907609	0.67324	D	0.52510554	0.68551	0.5940318	0.76435	0.52510554	0.68552	0.5940318	0.76436	-8.814	0.66492	D	.	.	0.957	0.87648	P	.	.	4.238175	0.64232	24.7	0.99861407413495462	0.94002	0.99292	0.94053	D	AEFGBI	0.815095	0.73715	D	0.861085333927434	0.89729	10.09338	0.856523218067628	0.93392	12.01194	0.999999999986871	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.6	5.6	0.84997	9.516000	0.97042	11.877000	0.98731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.577	0.95445	185	0.92771	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1786	351.91	104	chr1	180014239	.	G	C	351.91	.	AC=5;AF=0.179;AN=28;BaseQRankSum=-3.051e+00;DP=1895;ExcessHet=1.1607;FS=246.725;InbreedingCoeff=-0.2543;MLEAC=7;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=0.66;ReadPosRankSum=0.125;SOR=11.993	GT:AD:DP:GQ:PL	./.:58,0:58:0:0,0,645	9	0	5	7
chr1	180014368	180014368	G	C	exonic	CEP350	.	nonsynonymous SNV	CEP350:NM_014810:exon10:c.G1915C:p.A639P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.996	D	0.000	D	1.000	D	0.975	L	-2.59	D	0.412	D	0.732	D	0.811	4.909	28.3	5.44	2.712	7.229	19.239	0.533	0.162960905331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.938e-07	2.052e-05	0	1.399e-06	9.079e-07	0	0	.	.	0	0	0	0	0	0	9.079e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.073	0.43159	T	0.726	0.42471	P	0.533	0.48638	P	0.000175	0.48594	D	0.000000	0.999949	0.51968	D	2.485	0.72352	M	-2.59	0.89822	D	-2.36	0.52128	N	0.8	0.79599	0.412	0.89271	D	0.732	0.90833	D	9	0.72775644	0.74088	D	0.162961	0.84241	D	0.533	0.80367	0.183	0.09131	0.719831743072	0.71736	0.3087313756742884	0.30786	0.461430799888	0.45681	0.556343972683	0.46751	T	0.023507	0.17932	T	0.312031	0.83897	D	0.210434	0.83688	D	0.951117602773591	0.63488	D	0.90031	0.65351	D	0.6567444	0.75724	0.748747	0.85149	0.6567444	0.75725	0.748747	0.85149	-9.817	0.72809	D	.	.	0.933	0.85246	P	.	.	4.491660	0.70175	25.5	0.99786338097325844	0.87219	0.99185	0.92484	D	AEFBI	0.884800	0.81480	D	0.554747268834377	0.70372	5.491825	0.618703708997397	0.76297	6.465375	0.999999999874702	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.44	5.44	0.79348	7.646000	0.82603	11.877000	0.98731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	19.239	0.93860	185	0.92771	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02778	35.15	37	chr1	180014368	.	G	C	35.15	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.248e+00;DP=1613;ExcessHet=0.0000;FS=160.035;InbreedingCoeff=-0.0665;MLEAC=1;MLEAF=0.028;MQ=60.00;MQRankSum=0.00;QD=0.40;ReadPosRankSum=0.455;SOR=7.427	GT:AD:DP:GQ:PL	0/0:59,17:76:50:0,50,1417	17	0	1	3
chr1	180048592	180048592	A	G	exonic	CEP350	.	nonsynonymous SNV	CEP350:NM_014810:exon22:c.A4679G:p.N1560S,	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	B	0.138	B	0.000	D	0.791	N	0.895	L	0.51	T	-1.048	T	0.083	T	0.053	2.924	15.74	1.71	0.375	1.948	3.388	0.068	0.0190679033814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.27663	T	0.976	0.02447	T	0.129	0.27048	B	0.079	0.28749	B	0.000258	0.46924	D	0.000000	0.79052	0.29231	N	1.79	0.46772	L	0.51	0.55439	T	-1.09	0.28290	N	0.128	0.12198	-1.0478	0.15016	T	0.083	0.32700	T	9	0.060665965	0.07487	T	0.019068	0.41331	T	0.068	0.19811	0.079	0.00631	0.397785019963	0.39391	0.15660246876639872	0.15581	0.0583062659332	0.06459	0.401030272245	0.25212	T	0.007847	0.07229	T	-0.217341	0.18358	T	-0.549972	0.17329	T	0.332657903432846	0.26331	T	0.843516	0.52087	T	0.02572571	0.01544	0.039840765	0.04170	0.02572571	0.01544	0.039840765	0.04170	-2.037	0.03323	T	.	.	0.099	0.16494	B	.	.	2.720015	0.35575	19.93	0.99241997134292304	0.56565	0.94966	0.62953	D	AEFGBI	0.247283	0.36789	N	-0.296427497114363	0.29285	1.622725	-0.176076666662768	0.32418	1.844186	0.239942798567273	0.18560	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.55	1.71	0.23429	1.581000	0.36167	3.963000	0.40764	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.6496:0.141:0.0744:0.135	3.388	0.06856	168	0.93464	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	746.98	92	chr1	180048592	.	A	G	746.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.77;DP=785;ExcessHet=0.0000;FS=0.816;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.12;ReadPosRankSum=-2.240e-01;SOR=0.824	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1136	20	0	1	0
chr1	180078637	180078637	C	T	exonic	CEP350	.	nonsynonymous SNV	CEP350:NM_014810:exon29:c.C5942T:p.S1981L,	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.799	P	0.261	B	0.001	N	0.994	D	1.995	M	0.54	T	-0.824	T	0.166	T	0.451	4.577	24.9	5.31	2.649	4.965	17.520	0.101	0.0634723097621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.855e-07	1.368e-06	1.363e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.008	0.67890	D	0.704	0.41950	P	0.169	0.35248	B	0.001265	0.39594	N	0.000000	0.993519	0.41964	D	2.14	0.59869	M	0.54	0.54911	T	-2.38	0.52451	N	0.679	0.68603	-0.8238	0.53695	T	0.166	0.50421	T	9	0.38726968	0.54633	T	0.063472	0.68978	D	0.101	0.28911	0.296	0.26041	0.21174354426	0.20776	0.45306052014353937	0.45224	0.231282364471	0.25673	0.508765816689	0.40049	T	0.070376	0.33944	T	-0.0126414	0.49894	T	-0.255935	0.49230	T	0.9662846326828	0.67534	D	0.89611	0.63771	D	0.25079444	0.48084	0.27759776	0.53714	0.25079444	0.48084	0.27759776	0.53713	-4.241	0.27341	T	.	.	0.100	0.16929	B	.	.	4.467589	0.69589	25.4	0.99884655210029649	0.95970	0.94609	0.61725	D	AEFBI	0.473729	0.51830	N	0.374442236465178	0.60041	4.188835	0.448372364403884	0.64611	4.720474	0.998860083105356	0.37845	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.31	5.31	0.75063	5.012000	0.63775	7.609000	0.61840	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	17.520	0.87682	167	0.93508	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1489.98	37	chr1	180078637	.	C	T	1489.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.912e+00;DP=819;ExcessHet=0.0000;FS=1.602;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.52;ReadPosRankSum=-1.410e+00;SOR=0.898	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1403	20	0	1	0
chr1	180183935	180183935	T	C	exonic	QSOX1	.	nonsynonymous SNV	QSOX1:NM_001004128:exon7:c.T772C:p.F258L	.	.	426	1095	1	0	0	1	0.000456413	.	.	3308379	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.63	T	0.414	B	0.302	B	0.000	D	0.926	D	2.085	M	3.65	T	-1.086	T	0.044	T	0.427	0.844	8.410	3.02	0.970	3.721	6.912	0.174	0.00537943265676	7.7e-05	.	9.084e-05	0	8.637e-05	0	0	0.0002	0	0	9.06e-05	14	154602	rs377358722	6.774e-05	6.772e-05	5.31e-05	8.252e-05	0.0010	5.671e-05	5.261e-05	0.0005	0.0003	0	2.237e-05	0	0	0	0.0010	6.117e-05	9.936e-05	0.0002	6.57e-05	6.567e-05	3.854e-05	9.412e-05	0.0001	3.516e-05	2.616e-05	6.804e-05	5.087e-05	0	0	6.54e-05	0	0	0	0	0.0001	0	0	0.117	0.34095	T	0.192	0.33109	T	0.322	0.35185	B	0.302	0.41118	B	0.000002	0.62929	D	0.140005	0.925755	0.36814	D	2.23	0.63091	M	3.65	0.15843	T	-4.32	0.76655	D	0.302	0.41459	-1.0860	0.06227	T	0.044	0.18783	T	10	0.24672094	0.41941	T	0.005379	0.13801	T	0.174	0.44019	0.413	0.45052	0.239305524855	0.23518	0.6316733159188503	0.63101	0.226845316457	0.25228	0.598880887032	0.52746	T	0.230147	0.59614	T	-0.29542	0.09098	T	-0.425459	0.30451	T	0.401188284158707	0.28987	T	0.688631	0.29780	T	0.4697587	0.65275	0.2551407	0.51192	0.4697587	0.65276	0.2551407	0.51191	-8.59	0.65241	D	.	.	0.725	0.74005	P	.;.	.;.	3.559732	0.50079	22.9	0.75496995653812093	0.11098	0.86389	0.45659	D	AEFDBI	0.222481	0.34697	N	-0.521760001378241	0.21377	1.134048	-0.524155859448656	0.21497	1.163239	0.602208084490153	0.21735	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.4	3.02	0.33970	3.830000	0.55469	4.072000	0.41672	-0.157000	0.11712	1.000000	0.71638	1.000000	0.68203	0.090000	0.17789	0.0:0.0821:0.1529:0.765	6.912	0.23520	735	0.53711	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	936.98	41	chr1	180183935	.	T	C	936.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.388;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.68;ReadPosRankSum=0.983;SOR=0.672	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr1	180274428	180274428	T	C	exonic	LHX4	.	nonsynonymous SNV	LHX4:NM_033343:exon6:c.T1022C:p.I341T,	Pituitary hormone deficiency, combined, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1675666	Inborn_genetic_diseases|Short_stature-pituitary_and_cerebellar_defects-small_sella_turcica_syndrome	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009880,MedGen:C2678408,OMIM:262700,Orphanet:85442	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.19	T	0.228	B	0.045	B	0.007	N	0.590	D	0.345	N	-2.38	D	-0.224	T	0.422	T	0.586	2.028	12.74	4.54	0.952	4.287	10.745	0.419	0.0211626138279	7.7e-05	.	1.647e-05	9.61e-05	0	0	0	0	0	6.056e-05	1.94e-05	3	154602	rs372952844	3.078e-05	3.078e-05	3.131e-05	3.025e-05	0.0004	2.347e-05	2.095e-05	0.0003	0.0002	0.0004	0	0	2.519e-05	0	0	1.619e-05	3.311e-05	0.0001	7.222e-05	7.218e-05	0.0001	2.685e-05	0.0004	3.968e-05	3.125e-05	6.842e-05	4.288e-05	0.0001	0	0.0001	0	0.0004	0	0	1.47e-05	0	0	0.126	0.27194	T	0.134	0.34241	T	0.228	0.30509	B	0.045	0.24526	B	0.006586	0.31929	N	0.339055	0.589525	0.32444	D	0.345	0.11182	N	-2.38	0.88298	D	-1.06	0.27669	N	0.115	0.10340	-0.2244	0.77034	T	0.422	0.76704	T	10	0.14510599	0.27529	T	0.021163	0.43885	T	0.419	0.72855	.	.	0.957867350953	0.95742	0.22479956465904172	0.22394	0.344285718814	0.36357	0.596487820148	0.52408	T	0.245168	0.61441	T	-0.0692947	0.41439	T	-0.100645	0.63349	T	0.111683256924152	0.13596	T	0.714629	0.32694	T	0.08355197	0.19300	0.06354158	0.12602	0.08355197	0.19300	0.06354158	0.12602	-3.833	0.21298	T	.	.	0.106	0.19760	B	.	.	2.881241	0.38127	20.7	0.96877384434492975	0.31446	0.95579	0.65286	D	AEFDBI	0.299441	0.40850	N	-0.157904396751122	0.34900	1.997911	0.0267992072804931	0.40962	2.453197	0.999972482724745	0.50053	0.660377	0.49826	0	0.577304	0.33150	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	5.68	4.54	0.55220	4.275000	0.58723	6.143000	0.54081	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.1598:0.8402	10.745	0.45376	673	0.60677	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1305.98	40	chr1	180274428	.	T	C	1305.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.290e-01;DP=919;ExcessHet=0.0000;FS=3.328;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.70;ReadPosRankSum=-6.240e-01;SOR=1.042	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	20	0	1	0
chr1	180825229	180825229	G	A	exonic	XPR1	.	nonsynonymous SNV	XPR1:NM_001135669:exon9:c.G1019A:p.S340N	Basal ganglia calcification, idiopathic, 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.034	B	0.062	B	0.000	D	0.963	N	1.065	L	0.95	T	-1.046	T	0.069	T	0.055	1.617	11.36	4.61	1.327	0.618	4.235	0.126	0.00513232446854	.	0.000199681	1.648e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs550012177	2.736e-06	2.736e-06	0	5.501e-06	3.479e-05	6.4e-07	4.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	8.993e-07	0	3.479e-05	1.314e-05	1.313e-05	1.285e-05	1.344e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	0	0	0.0002	0.233	0.18122	T	0.309	0.19782	T	0.004	0.20480	B	0.027	0.26930	B	0.000033	0.55875	D	0.191449	0.962535	0.26062	N	1.04	0.26193	L	0.95	0.43279	T	-1.05	0.27463	N	0.196	0.25130	-1.0456	0.15650	T	0.069	0.28346	T	10	0.04782027	0.04150	T	0.005132	0.13032	T	0.126	0.34673	0.486	0.56939	0.043077524339	0.03247	0.2666217005668681	0.26575	0.789032246817	0.65677	0.484620720148	0.36693	T	0.159068	0.50235	T	-0.465977	0.00901	T	-0.670451	0.07580	T	0.197426840662956	0.20273	T	0.667233	0.27634	T	0.13390881	0.31131	0.10566862	0.25406	0.13390881	0.31131	0.10566862	0.25406	-4.369	0.29244	T	0.14714436419790136	0.17029	0.186	0.42448	B	.;.	.;.	1.826417	0.23208	15.93	0.97295778076999428	0.33252	0.27794	0.23376	N	AEFBI	0.136314	0.25694	N	-0.412915621967041	0.25016	1.354905	-0.280100490163027	0.28753	1.60568	0.0247745626186223	0.13602	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.52	4.61	0.56724	0.923000	0.28364	2.552000	0.33269	0.676000	0.76740	0.320000	0.25502	1.000000	0.68203	0.998000	0.85391	0.0792:0.1317:0.5408:0.2483	4.235	0.10073	583	0.69484	EXS, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	821.98	37	chr1	180825229	.	G	A	821.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.983;DP=802;ExcessHet=0.0000;FS=1.622;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.83;ReadPosRankSum=-3.650e-01;SOR=0.922	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1377	20	0	1	0
chr1	180941266	180941266	C	G	exonic	KIAA1614	.	nonsynonymous SNV	KIAA1614:NM_020950:exon7:c.C3140G:p.S1047W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	0.895	D	2.215	M	1.22	T	-0.369	T	0.296	T	0.739	3.440	17.64	5.21	2.413	0.638	15.668	0.241	0.121683183808	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772926484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000056	0.53742	D	0.078950	0.999997	0.58761	D	2.485	0.72352	M	1.22	0.51952	T	-5.97	0.91100	D	0.833	0.85132	-0.3694	0.72980	T	0.296	0.66726	T	9	0.33051717	0.50289	T	0.121683	0.80250	D	0.241	0.54641	0.183	0.09131	0.390531646278	0.38663	0.5785496500738829	0.57783	0.94884049527	0.72533	0.469298362732	0.34583	T	0.210369	0.57084	T	0.103707	0.64691	D	-0.0888089	0.64252	T	0.997300326824188	0.91240	D	0.879412	0.60266	D	0.836256	0.86341	0.75906074	0.85763	0.836256	0.86343	0.75906074	0.85764	-9.789	0.72638	D	.	.	0.686	0.72384	P	.;.;.	.;.;.	4.581825	0.72389	25.8	0.98892471714157504	0.48037	0.39880	0.26312	N	AEFDBI	0.228972	0.35257	N	0.295406756584982	0.55916	3.755669	0.163459919120869	0.47858	3.009945	0.999993514988286	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.21	5.21	0.72005	5.177000	0.64870	7.496000	0.59428	0.581000	0.30040	0.988000	0.36536	1.000000	0.68203	0.612000	0.31691	0.0:1.0:0.0:0.0	15.668	0.76997	785	0.46916	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1326.98	36	chr1	180941266	.	C	G	1326.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.987;DP=843;ExcessHet=0.0000;FS=1.601;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.76;ReadPosRankSum=0.091;SOR=0.933	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1107	20	0	1	0
chr1	180990039	180990039	C	T	exonic	STX6	.	nonsynonymous SNV	STX6:NM_001286210:exon3:c.G131A:p.R44Q	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.07	B	0.016	B	0.027	N	0.814	N	0.63	N	.	.	-0.958	T	0.092	T	0.288	0.824	8.319	4.47	1.272	1.279	11.975	0.018	0.00339814747694	.	.	8.24e-06	0	8.64e-05	0	0	0	0	0	6.5e-06	1	154602	rs752296738	1.437e-05	1.436e-05	8.168e-06	2.063e-05	5.797e-05	9.23e-06	7.84e-06	2.194e-05	1.43e-05	0	2.236e-05	0	2.519e-05	1.872e-05	0	8.094e-06	6.623e-05	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	0.06802	T	0.601	0.07919	T	0.055	0.22733	B	0.01	0.14941	B	0.027162	0.25800	N	0.384560	0.54994	0.32124	D	1.085	0.27262	L	.	.	.	0.53	0.06026	N	0.255	0.30233	-0.9584	0.39479	T	0.092	0.35228	T	8	0.08572242	0.14500	T	0.003398	0.07633	T	0.018	0.03083	0.333	0.32005	0.597428455468	0.59422	0.2466887478777803	0.24582	0.0704899027279	0.07900	0.257763564587	0.04628	T	0.07316	0.34630	T	-0.19116	0.22086	T	-0.415511	0.31591	T	0.192994215670615	0.20019	T	0.919808	0.71260	D	0.044269055	0.07047	0.04257171	0.05100	0.044269055	0.07046	0.04257171	0.05100	-4.61	0.36182	T	.	.	0.064	0.02145	B	.;.	.;.	1.585878	0.20285	14.68	0.76876794332507226	0.11645	0.70775	0.34731	D	AEFDBI	0.077754	0.15672	N	-0.633056696578059	0.17957	0.9284763	-0.531666365190509	0.21295	1.151326	0.845390818403188	0.24944	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.38	4.47	0.53770	1.323000	0.33307	0.389000	0.17868	0.596000	0.33519	0.683000	0.28466	0.026000	0.21063	0.195000	0.21750	0.0:0.9189:0.0:0.0811	11.975	0.52376	793	0.45818	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	537.98	35	chr1	180990039	.	C	T	537.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=744;ExcessHet=0.0000;FS=1.067;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.96;ReadPosRankSum=-1.515e+00;SOR=0.782	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1083	20	0	1	0
chr1	181651376	181651376	C	G	exonic	CACNA1E	.	stopgain	CACNA1E:NM_000721:exon7:c.C990G:p.Y330X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	5.080	31	3.16	1.233	1.894	10.219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0015	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	9.176e-05	0	0	0	0	0	0.0002	0.0002	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000152	0.49130	D	0.184301	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.813	0.80964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607496	0.97860	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;Recessive;.;.;.;.	.;.;.;.;High;.;.;.;.	7.541588	0.96621	36	0.99781923951723206	0.86867	0.94030	0.59902	D	AEFDBI	0.321650	0.42439	N	0.624659178573725	0.74736	6.183878	0.466905708948269	0.65809	4.871025	0.999982252266257	0.51787	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.12	3.16	0.35406	1.546000	0.35787	1.050000	0.23629	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8307:0.0:0.1693	10.219	0.42363	702	0.57624	Ion transport domain;.;.;Ion transport domain;Ion transport domain;Ion transport domain;.;Ion transport domain;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	516.78	82	chr1	181651376	.	C	G	516.78	.	AC=5;AF=0.250;AN=20;BaseQRankSum=-2.592e+00;DP=1988;ExcessHet=1.1607;FS=273.598;InbreedingCoeff=-0.3191;MLEAC=7;MLEAF=0.350;MQ=60.00;MQRankSum=0.00;QD=0.78;ReadPosRankSum=0.266;SOR=10.462	GT:AD:DP:GQ:PL	0/1:114,30:144:3:3,0,1724	5	0	5	11
chr1	182527656	182527656	T	G	exonic	RGSL1	.	nonsynonymous SNV	RGSL1:NM_001137669:exon11:c.T2009G:p.I670S	.	.	438	1074	10	0	0	10	0.00463392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0079	0.00658946	0.0040	0.0207	0.0024	0	0	0.0033	0	0.0001	0.0011449	177	154602	rs112168593	0.0013	0.0013	0.0014	0.0012	0.0242	0.0013	0.0012	0.0228	0.0222	0.0242	0.0031	0.0120	0	0	0.0214	0.0003	0.0033	0.0002	0.0074	0.0074	0.0079	0.0070	0.0232	0.0071	0.0069	0.0220	0.0215	0.0232	0	0.0040	0.0138	0	0	0.0306	0.0005	0.0057	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.015	0.00187	N	4.66	0.01756	T	1.36	0.00878	N	0.067	0.03956	.	.	.	.	.	.	.	0.002305597	0.00034	T	.	.	.	.	.	.	.	0.0482279557977	0.04254	0.16437672724921135	0.16357	.	.	0.313681006432	0.12463	T	1.22E-4	0.00015	T	-0.681751	0.00047	T	-0.734479	0.04127	T	.	.	.	0.135986	0.01074	T	0.044344943	0.07074	0.059720792	0.11255	0.044344943	0.07073	0.059720792	0.11255	-2.989	0.10063	T	.	.	0.071	0.04002	B	.	.	-1.334697	0.00410	0.008	0.27816065459680284	0.01399	0.00167	0.00991	N	AEFBI	0.023133	0.01247	N	.	.	.	.	.	.	0.99797975429368	0.36262	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.36	-8.71	0.00734	-3.871000	0.00389	-3.290000	0.02902	-0.107000	0.15377	0.000000	0.06391	0.000000	0.08366	0.439000	0.27649	0.2699:0.3354:0.1355:0.2593	1.035	0.01449	819	0.41190	RGS domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	563.98	35	chr1	182527656	.	T	G	563.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.470e-01;DP=783;ExcessHet=0.0000;FS=0.886;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.71;ReadPosRankSum=1.93;SOR=0.910	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1264	20	0	1	0
chr1	182530821	182530821	C	T	exonic	RGSL1	.	nonsynonymous SNV	RGSL1:NM_001137669:exon13:c.C2275T:p.H759Y	.	.	433	1079	10	0	0	10	0.00461255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0055	0.00658946	0.0038	0.0203	0.0024	0	0	0.0031	0	0.0001	0.000925	143	154602	rs144974547	0.0013	0.0012	0.0013	0.0012	0.0240	0.0012	0.0012	0.0225	0.0220	0.0240	0.0030	0.0120	0	0	0.0194	0.0003	0.0031	0.0002	0.0073	0.0073	0.0077	0.0068	0.0226	0.0069	0.0068	0.0214	0.0209	0.0226	0	0.0040	0.0138	0	0	0.0272	0.0005	0.0057	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	1.95	0.22474	T	-0.86	0.23372	N	0.132	0.12770	.	.	.	.	.	.	.	0.004850656	0.00103	T	.	.	.	.	.	.	.	0.154104182512	0.14974	0.12006430632421262	0.11933	.	.	0.235803753138	0.02425	T	0.004882	0.04301	T	-0.681519	0.00047	T	-0.734146	0.04142	T	.	.	.	0.19598	0.02159	T	0.038350973	0.05092	0.0516819	0.08365	0.038350973	0.05092	0.0516819	0.08364	-3.663	0.18773	T	.	.	0.072	0.04356	B	.	.	-0.711441	0.01294	0.069	0.20450242423031911	0.00736	0.02532	0.07044	N	AEFGBI	0.030228	0.03004	N	.	.	.	.	.	.	1.04305301671019E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.2	-2.39	0.06223	0.255000	0.18102	-0.308000	0.10061	-0.798000	0.03190	0.000000	0.06391	0.000000	0.08366	0.038000	0.14061	0.1256:0.4565:0.1231:0.2948	2.042	0.03335	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1665.98	35	chr1	182530821	.	C	T	1665.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.285;DP=780;ExcessHet=0.0000;FS=3.055;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.36;ReadPosRankSum=-1.226e+00;SOR=0.826	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1106	20	0	1	0
chr1	182530822	182530822	A	G	exonic	RGSL1	.	nonsynonymous SNV	RGSL1:NM_001137669:exon13:c.A2276G:p.H759R	.	.	434	1078	10	0	0	10	0.00461681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0055	0.00658946	0.0038	0.0203	0.0024	0	0	0.0031	0	0.0001	0.0009379	145	154602	rs147958249	0.0013	0.0012	0.0013	0.0012	0.0239	0.0012	0.0012	0.0225	0.0219	0.0239	0.0030	0.0120	2.804e-05	0	0.0194	0.0003	0.0031	0.0002	0.0073	0.0073	0.0077	0.0068	0.0226	0.0069	0.0068	0.0214	0.0209	0.0226	0	0.0040	0.0138	0	0	0.0272	0.0005	0.0057	0.0008	0.664	0.04643	T	0.781	0.04316	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.955	0.01252	N	2.07	0.20387	T	1.04	0.01332	N	0.051	0.02272	.	.	.	.	.	.	.	0.0041003823	0.00081	T	.	.	.	.	.	.	.	0.0401082797425	0.02173	0.11975255764603225	0.11902	.	.	0.23224376142	0.02138	T	1.98E-4	0.00034	T	-0.780794	0.00011	T	-0.876747	0.00681	T	.	.	.	0.133387	0.01053	T	0.022936882	0.00993	0.02663198	0.00763	0.022936882	0.00993	0.02663198	0.00763	-3.896	0.22243	T	.	.	0.055	0.00412	B	.	.	-1.467085	0.00315	0.005	0.33398853155839092	0.01987	0.00148	0.00897	N	AEFGBI	0.014112	0.00213	N	.	.	.	.	.	.	0.00893469739416133	0.11767	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.2	-5.75	0.02190	-1.406000	0.02596	-2.018000	0.04337	-0.671000	0.04298	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.2943:0.1926:0.2978:0.2152	0.432	0.00441	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1665.98	35	chr1	182530822	.	A	G	1665.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.659;DP=780;ExcessHet=0.0000;FS=3.055;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.36;ReadPosRankSum=-1.156e+00;SOR=0.826	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1106	20	0	1	0
chr1	182551123	182551123	G	A	exonic	RGSL1	.	nonsynonymous SNV	RGSL1:NM_001137669:exon18:c.G2957A:p.R986H	.	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0117285555729	0.0009	0.000399361	0.0014	0	0	0	0	0.0032	0	0.0004	0.0003169	49	154602	rs182399502	0.0006	0.0006	0.0005	0.0006	0.0165	0.0006	0.0005	0.0138	0.0128	0.0002	0.0011	0.0122	0	0	0.0165	0.0002	0.0014	0.0004	0.0007	0.0007	0.0007	0.0007	0.0010	0.0006	0.0006	0.0006	0.0005	4.811e-05	0	0.0010	0.0138	0	0	0.0272	0.0005	0.0019	0.0002	0.106	0.29688	T	0.008	0.67890	D	0.27	0.31762	B	0.039	0.23607	B	.	.	.	.	1	0.08975	N	1.245	0.31408	L	1.85	0.24472	T	-1.19	0.30346	N	0.075	0.04913	.	.	.	.	.	.	.	0.0045185685	0.00093	T	0.011729	0.29644	T	.	.	.	.	0.0884992946249	0.08302	0.15745488202864302	0.15666	.	.	0.197746396065	0.00394	T	0.005563	0.05012	T	-0.55625	0.00267	T	-0.633785	0.10130	T	.	.	.	0.50295	0.15803	T	0.02917472	0.02370	0.038722366	0.03805	0.02917472	0.02370	0.038722366	0.03804	-1.357	0.01496	T	.	.	0.081	0.08129	B	.	.	0.014488	0.04385	1.132	0.90745433001771636	0.19995	0.01856	0.05735	N	AEFBHCI	0.014699	0.00246	N	.	.	.	.	.	.	3.1799352647016E-4	0.06498	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	4.68	-2.24	0.06518	-1.438000	0.02523	-1.338000	0.05679	-0.777000	0.03376	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.5079:0.1629:0.3292:0.0	4.975	0.13484	748	0.52143	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	558.98	33	chr1	182551123	.	G	A	558.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.827e+00;DP=749;ExcessHet=0.0000;FS=1.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.32;ReadPosRankSum=0.699;SOR=0.515	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr1	182556054	182556054	G	T	exonic	RGSL1	.	nonsynonymous SNV	RGSL1:NM_001137669:exon21:c.G3228T:p.K1076N	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01181568503	.	0.000199681	9.026e-05	0	0	0	0	0.0002	0	0	1.94e-05	3	154602	rs570097728	8.576e-05	8.277e-05	0.0001	7.1e-05	0.0004	7.315e-05	6.845e-05	8.654e-05	8.134e-05	0	8.404e-05	0	0	2.028e-05	0.0004	0.0001	5.17e-05	0	3.94e-05	3.937e-05	2.57e-05	5.372e-05	8.821e-05	1.715e-05	1.129e-05	3.762e-05	2.575e-05	0	0	0	0	0	0	0	8.821e-05	0	0	0.017	0.51248	D	0.0	0.92824	D	0.94	0.52768	P	0.382	0.43908	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	1.78	0.25678	T	-0.66	0.19085	N	0.266	0.30118	.	.	.	.	.	.	.	0.0526793	0.05339	T	0.011816	0.29821	T	.	.	.	.	0.134241683229	0.13084	0.16257599924072025	0.16177	.	.	0.443956077099	0.31117	T	0.004955	0.04374	T	-0.485454	0.00688	T	-0.650384	0.08927	T	.	.	.	0.419058	0.11093	T	0.087467365	0.20369	0.08191667	0.18655	0.087467365	0.20368	0.08191667	0.18655	-4.415	0.29759	T	.	.	0.286	0.51798	B	.	.	0.481140	0.08503	5.267	0.97092821338512558	0.32332	0.02830	0.07572	N	AEFBI	0.036684	0.04928	N	.	.	.	.	.	.	0.0056275874410317	0.10996	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.58	-4.13	0.03639	-0.675000	0.05327	-0.077000	0.12225	-0.123000	0.13640	0.037000	0.20830	0.001000	0.17328	0.243000	0.23080	0.562:0.1508:0.2872:0.0	6.421	0.20948	748	0.52143	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1097.98	80	chr1	182556054	.	G	T	1097.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.710;DP=770;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=0.977;SOR=0.784	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1163	20	0	1	0
chr1	182585533	182585533	C	A	exonic	RNASEL	.	nonsynonymous SNV	RNASEL:NM_021133:exon2:c.G1274T:p.S425I,	Prostate cancer 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.028	B	0.066	B	0.639	N	1.000	N	1.61	L	-0.17	T	-0.971	T	0.162	T	0.112	3.160	16.57	-2.26	-0.349	-0.818	1.143	0.093	0.0307130700267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.27310	T	0.121	0.35840	T	0.028	0.19712	B	0.066	0.27432	B	0.639273	0.05858	N	1.160480	1	0.08975	N	1.605	0.40863	L	-0.17	0.65563	T	-1.32	0.36385	N	0.089	0.08088	-0.9712	0.36946	T	0.162	0.49698	T	10	0.12136254	0.23004	T	0.030713	0.52967	D	0.093	0.26882	0.557	0.67547	0.802560637798	0.80071	0.1526574392105914	0.15187	0.0766186226647	0.08601	0.341486424208	0.16661	T	0.061751	0.31736	T	-0.204628	0.20142	T	-0.53171	0.19115	T	0.0848256388155286	0.10592	T	0.569643	0.20265	T	0.1419012	0.32677	0.088096745	0.20519	0.1419012	0.32677	0.088096745	0.20518	-3.742	0.19940	T	0.17941074174384158	0.23040	0.095	0.18456	B	.;.	.;.	0.603115	0.09717	6.485	0.96456371368675864	0.29883	0.06624	0.12640	N	AEFDBCI	0.054606	0.09943	N	-0.804571757413898	0.13193	0.6482315	-0.834740403893782	0.13654	0.7095247	0.999998121386011	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.95	-2.26	0.06478	-0.790000	0.04709	-4.713000	0.02020	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.2196:0.2972:0.1078:0.3754	1.143	0.01660	815	0.41851	Protein kinase domain|Protein kinase domain|Protein kinase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1549.98	36	chr1	182585533	.	C	A	1549.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.659e+00;DP=925;ExcessHet=0.0000;FS=7.276;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=-2.580e-01;SOR=0.440	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1160	20	0	1	0
chr1	182586014	182586014	C	A	exonic	RNASEL	.	stopgain	RNASEL:NM_021133:exon2:c.G793T:p.E265X,	Prostate cancer 1, Autosomal dominant	.	0	1507	15	0	0	15	0.00495213	.	.	28043	Prostate_cancer,_hereditary,_1|not_provided|RNASEL-related_disorder|Malignant_tumor_of_prostate	MONDO:MONDO:0011098,MedGen:C4722327,OMIM:601518,Orphanet:1331|MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.25	T	.	.	.	.	0.266	N	1.000	A	.	.	.	.	.	.	.	.	.	5.651	36	3.2	0.522	1.287	7.231	.	.	0.0032	0.00179712	0.0040	0.0012	0.0016	0.0001	0.0064	0.0058	0.0022	0.0014	0.0007827	121	154602	rs74315364	0.0037	0.0037	0.0037	0.0037	0.0050	0.0036	0.0036	0.0039	0.0038	0.0007	0.0023	0.0037	0	0.0081	0.0050	0.0040	0.0040	0.0014	0.0033	0.0033	0.0034	0.0031	0.0058	0.0030	0.0029	0.0048	0.0045	0.0008	0	0.0058	0.0040	0	0.0062	0.0102	0.0040	0.0061	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	0.265981	0.15220	N	0.645766	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.53	0.55886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278776	0.81212	D	0.63	0.97656	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	6.253031	0.94884	34	0.99473489894486611	0.66472	0.59352	0.30891	D	AEFBCI	0.109063	0.21675	N	0.397520873932774	0.61287	4.328	0.100664552756241	0.44583	2.737254	0.999958239648987	0.48110	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.15	3.2	0.35826	0.951000	0.28733	1.735000	0.28356	0.596000	0.33519	0.634000	0.28033	0.916000	0.28226	0.337000	0.25363	0.0:0.6949:0.1423:0.1628	7.231	0.25215	814	0.42100	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1943.98	158	chr1	182586014	.	C	A	1943.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.990e-01;DP=967;ExcessHet=0.0000;FS=3.815;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=1.60;SOR=0.430	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1160	20	0	1	0
chr1	182586632	182586632	C	T	exonic	RNASEL	.	nonsynonymous SNV	RNASEL:NM_021133:exon2:c.G175A:p.G59S,	Prostate cancer 1, Autosomal dominant	.	0	1507	15	0	0	15	0.00495213	.	.	696306	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	1.0	D	1.0	D	0.000	D	0.828	D	2.515	M	-0.77	T	-0.056	T	0.433	T	0.288	2.810	15.36	2.78	0.503	1.575	5.830	0.404	0.282209475347	0.0029	0.00179712	0.0039	0.0011	0.0016	0.0001	0.0064	0.0057	0.0022	0.0014	0.0038421	594	154602	rs151296858	0.0037	0.0037	0.0037	0.0037	0.0050	0.0036	0.0036	0.0038	0.0038	0.0007	0.0023	0.0036	0	0.0081	0.0050	0.0039	0.0038	0.0014	0.0032	0.0032	0.0033	0.0031	0.0058	0.0030	0.0029	0.0048	0.0045	0.0008	0	0.0058	0.0040	0	0.0062	0.0102	0.0039	0.0066	0.0008	0.014	0.53172	D	0.014	0.62352	D	1.0	0.90584	D	1.0	0.97372	D	0.000238	0.47286	D	0.092623	0.828143	0.34877	D	2.675	0.78361	M	-0.77	0.73523	T	-2.72	0.57920	D	0.373	0.41459	-0.0561	0.81076	T	0.433	0.77407	T	10	0.011879116	0.00258	T	0.282209	0.90271	D	0.404	0.71714	.	.	0.899975434759	0.89898	0.6521194599782478	0.65147	0.353358450785	0.37142	0.341807186604	0.16709	T	0.14315	0.47911	T	-0.358014	0.04243	T	-0.284704	0.46321	T	0.0155207808445425	0.00352	T	0.866813	0.57669	D	0.5932893	0.72328	0.29274562	0.55302	0.48848408	0.66413	0.36661318	0.61987	-7.32	0.56337	T	0.7356181664637591	0.81748	0.236	0.46938	B	.;.	.;.	3.864197	0.56056	23.7	0.99757088460765497	0.84772	0.83379	0.42501	D	ALL	0.134145	0.25405	N	0.27247755598839	0.54758	3.640689	0.124296988360065	0.45796	2.836363	0.999999999999983	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.71	2.78	0.31702	1.836000	0.38831	3.264000	0.37112	0.545000	0.25583	0.992000	0.37556	0.998000	0.33993	0.400000	0.26782	0.1551:0.6825:0.0:0.1625	5.830	0.17828	814	0.42100	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1792.98	141	chr1	182586632	.	C	T	1792.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.00;DP=903;ExcessHet=0.0000;FS=2.115;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.72;ReadPosRankSum=1.98;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1160	20	0	1	0
chr1	182952860	182952860	-	CTC	exonic	SHCBP1L	.	nonframeshift insertion	SHCBP1L:NM_030933:exon1:c.273_274insGAG:p.E91_P92insE,	.	.	263	1232	25	2	0	29	0.0116326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0431	.	0.0022	0.0033	0.0036	0	0	0.0005	0.0084	0.0077	0.0001537	4	26028	rs566172305	0.0010	0.0010	0.0008	0.0012	0.0083	0.0010	0.0009	0.0078	0.0076	3.022e-05	0.0023	0	0	1.963e-05	0.0037	0.0005	0.0012	0.0083	0.0009	0.0009	0.0007	0.0010	0.0054	0.0007	0.0007	0.0038	0.0032	0.0002	0	0.0028	0	0.0002	0	0	0.0007	0.0014	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2615.07	33	chr1	182952860	.	G	GCTC	2615.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.43;DP=834;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=16.14;ReadPosRankSum=1.13;SOR=0.653	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1093	19	0	2	0
chr1	182952866	182952871	CCGCCG	-	exonic	SHCBP1L	.	nonframeshift deletion	SHCBP1L:NM_030933:exon1:c.263_268del:p.A88_A89del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0	0	0.0007	3.84e-05	1	26028	rs747708113	4.761e-05	4.994e-05	3.017e-05	6.527e-05	0.0007	3.827e-05	3.506e-05	0.0006	0.0005	3.037e-05	0	0	2.562e-05	0	0	3.613e-06	1.674e-05	0.0007	1.971e-05	1.969e-05	1.286e-05	2.687e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	0	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1581.94	33	chr1	182952865	.	TCCGCCG	T	1581.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.320e-01;DP=880;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.97;ReadPosRankSum=0.937;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1093	20	0	1	0
chr1	182952868	182952868	G	0	exonic	SHCBP1L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1967.41	33	chr1	182952868	.	G	T,*	1967.41	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=3.32;DP=1005;ExcessHet=0.1072;FS=1.032;InbreedingCoeff=-0.0633;MLEAC=1,1;MLEAF=0.025,0.025;MQ=60.00;MQRankSum=0.00;QD=8.90;ReadPosRankSum=0.460;SOR=0.776	GT:AD:DP:GQ:PL	0/0:34,0,0:34:99:0,99,1093,99,1093,1093	18	0	1	1
chr1	182952875	182952875	C	T	exonic	SHCBP1L	.	nonsynonymous SNV	SHCBP1L:NM_030933:exon1:c.G259A:p.A87T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.0	B	0.001	B	0.713	N	0.934	D	0.345	N	0.88	T	-1.086	T	0.072	T	0.183	0.685	7.661	3.37	1.595	0.407	10.562	0.066	0.00219905016894	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1233094369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.18246	T	0.502	0.11115	T	.	.	.	.	.	.	0.713165	0.06269	N	1.225170	1	0.08975	N	.	.	.	0.88	0.46028	T	0.08	0.06026	N	0.217	0.24260	-1.0857	0.06281	T	0.072	0.29130	T	10	0.09435511	0.16771	T	0.002199	0.04151	T	0.066	0.19193	0.304	0.27325	0.0401082797425	0.02173	0.1316331871244243	0.13088	0.162268609732	0.18304	0.625117897987	0.56452	T	.	.	.	-0.286159	0.10025	T	-0.648824	0.09036	T	0.0671158804352457	0.08240	T	0.364964	0.08484	T	0.030501524	0.02726	0.05318392	0.08908	0.030501524	0.02725	0.05318392	0.08907	-5.862	0.45110	T	.	.	0.087	0.11027	B	.	.	0.753074	0.11226	7.859	0.98014915502542788	0.37582	0.00783	0.03212	N	AEFDBI	0.030043	0.02947	N	-0.914845378872758	0.10495	0.5017527	-0.898261993879333	0.12136	0.6224684	0.999994734434891	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.603991	0.37454	0	.	.	3.37	3.37	0.37692	0.606000	0.23891	1.130000	0.24318	-0.306000	0.06133	0.011000	0.18532	0.004000	0.18990	0.002000	0.04165	0.0:1.0:0.0:0.0	10.562	0.44341	607	0.67291	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	557.98	33	chr1	182952875	.	C	T	557.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=820;ExcessHet=0.0000;FS=1.077;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.30;ReadPosRankSum=-2.720e-01;SOR=1.002	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1093	20	0	1	0
chr1	183110556	183110556	A	G	exonic	LAMC1	.	nonsynonymous SNV	LAMC1:NM_002293:exon4:c.A923G:p.K308R,	.	.	415	1103	4	0	0	4	0.00180995	.	.	3210640	LAMC1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.42	T	0.581	P	0.537	P	0.000	N	1.000	D	0.645	N	0.03	T	-0.845	T	0.202	T	0.177	4.066	20.9	4.87	1.815	6.054	14.456	0.188	0.0168773435562	0.0004	0.000199681	0.0006	0.0002	0.0014	0	0	0.0007	0.0033	0	0.0006404	99	154602	rs139092535	0.0005	0.0005	0.0005	0.0006	0.0092	0.0005	0.0005	0.0072	0.0065	0.0005	0.0014	0.0068	0	0	0.0092	0.0004	0.0010	5.798e-05	0.0006	0.0006	0.0007	0.0006	0.0013	0.0005	0.0005	0.0009	0.0007	0.0002	0	0.0013	0.0084	0	0	0.0238	0.0004	0.0024	0.0002	0.467	0.08559	T	0.085	0.54934	T	0.581	0.38837	P	0.537	0.48765	P	0.000000	0.84330	N	0.046632	0.999991	0.58761	D	1.15	0.29295	L	0.03	0.62183	T	-0.99	0.26200	N	0.233	0.26233	-0.8453	0.52291	T	0.202	0.55877	T	10	0.012073934	0.00261	T	0.016877	0.38341	T	0.188	0.46444	.	.	0.626761088415	0.62371	0.5527098187172761	0.55196	0.463862040873	0.45876	0.734150886536	0.72114	T	0.059698	0.31187	T	-0.39801	0.02386	T	-0.385023	0.35133	T	0.0395096673278562	0.03603	T	0.943706	0.78720	D	0.14024384	0.32365	0.12798876	0.30799	0.14024384	0.32365	0.12798876	0.30798	-5.226	0.39205	T	.	.	0.094	0.14293	B	.;.	.;.	3.420855	0.47502	22.5	0.99845275229127561	0.92489	0.96647	0.70197	D	AEFBI	0.723029	0.67277	D	0.0536246997248693	0.44309	2.70734	0.137124146079827	0.46463	2.891925	0.999999981444955	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.719019	0.79029	0	0.714379	0.83352	0	.	.	4.87	4.87	0.62877	6.071000	0.70862	8.103000	0.76564	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	14.456	0.66993	451	0.79296	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	824.98	34	chr1	183110556	.	A	G	824.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.380e+00;DP=814;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.50;ReadPosRankSum=-2.083e+00;SOR=0.691	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr1	183207997	183207997	G	A	exonic	LAMC2	.	nonsynonymous SNV	LAMC2:NM_005562:exon2:c.G196A:p.E66K	Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive	YES	1	1506	15	0	0	15	0.0049554	.	.	192407	Junctional_epidermolysis_bullosa|Junctional_epidermolysis_bullosa,_non-Herlitz_type|not_provided	MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305|MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650,Orphanet:251393,Orphanet:79402,Orphanet:79405,Orphanet:89840|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	3.97	H	-0.14	T	0.466	D	0.582	D	0.732	4.182	21.7	3.89	1.011	7.351	14.87	0.504	0.0695001038102	0.0012	0.000399361	0.0013	9.61e-05	0.0008	0	0.0002	0.0016	0	0.0025	0.0012484	193	154602	rs146325169	0.0016	0.0016	0.0015	0.0016	0.0035	0.0015	0.0015	0.0024	0.0023	0.0003	0.0011	0.0011	0	0.0002	0.0035	0.0017	0.0012	0.0026	0.0012	0.0012	0.0011	0.0012	0.0025	0.0010	0.0010	0.0019	0.0016	0.0004	0	0.0025	0.0006	0	0	0.0034	0.0017	0.0014	0.0019	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000002	0.62929	D	0.000000	1	0.81001	D	4.475	0.98900	H	-0.14	0.65006	T	-3.85	0.72932	D	0.721	0.72299	0.466	0.90067	D	0.582	0.84968	D	10	0.13219815	0.25161	T	0.070	0.70747	D	0.504	0.78600	.	.	0.823513027696	0.82184	0.8431487161829182	0.84275	0.533294624211	0.50767	0.529933571815	0.43025	T	0.458358	0.79637	T	-0.108989	0.34934	T	0.0660536	0.74647	D	0.198354672269882	0.20325	T	0.948505	0.80271	D	0.7870252	0.83088	0.76312983	0.86006	0.7685657	0.81964	0.70156354	0.82415	-13.147	0.89959	D	0.6873950157316275	0.76465	0.371	0.57896	A	.;.	.;.	4.970492	0.82252	27.7	0.99932501957676223	0.99439	0.97344	0.74157	D	AEFBI	0.911594	0.87107	D	0.760789460467392	0.83606	8.061597	0.601091658765851	0.75021	6.237097	0.999998505535972	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.81	3.89	0.44098	7.665000	0.82824	9.810000	0.81742	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0:0.1442:0.8558:0.0	14.87	0.70087	482	0.77288	.;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1931.98	35	chr1	183207997	.	G	A	1931.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=1085;ExcessHet=0.0000;FS=2.515;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.01;ReadPosRankSum=2.83;SOR=0.762	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,102,1800	20	0	1	0
chr1	183215528	183215528	G	A	exonic	LAMC2	.	nonsynonymous SNV	LAMC2:NM_005562:exon3:c.G344A:p.R115Q	Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive	YES	1	1494	26	1	0	28	0.00928382	.	.	277786	Junctional_epidermolysis_bullosa|not_provided	MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.09	T	0.2	B	0.041	B	0.008	N	1.000	D	1.535	L	0.06	T	-0.964	T	0.082	T	0.172	2.896	15.65	2.99	1.038	2.045	5.825	0.045	.	0.0062	0.00399361	0.0097	0.0011	0.0064	0	0.0398	0.0098	0.0198	0.0092	0.0091267	1411	154602	rs17481405	0.0099	0.0099	0.0098	0.0100	0.0116	0.0098	0.0097	0.0095	0.0093	0.0012	0.0064	0.0025	5.038e-05	0.0390	0.0116	0.0094	0.0099	0.0101	0.0089	0.0089	0.0082	0.0095	0.0095	0.0085	0.0083	0.0089	0.0087	0.0012	0.0811	0.0052	0.0023	0	0.0406	0.0068	0.0095	0.0085	0.0081	0.038	0.42783	D	0.232	0.24987	T	0.038	0.29645	B	0.016	0.23986	B	0.007652	0.31274	N	0.220313	0.999985	0.54805	D	0.96	0.23930	L	0.06	0.61798	T	-3.22	0.68532	D	0.176	0.23506	-0.9639	0.38428	T	0.082	0.32353	T	10	0.011888444	0.00258	T	.	.	.	0.045	0.12272	.	.	.	.	0.6010716398682795	0.60038	0.157538799159	0.17790	0.250994592905	0.03873	T	0.251805	0.62211	T	-0.450739	0.01118	T	-0.41227	0.31963	T	0.0173335099455068	0.00473	T	0.956004	0.83260	D	0.16999279	0.37548	0.16556077	0.38294	0.17766419	0.38745	0.14288422	0.33976	-4.465	0.30428	T	0.19664150434230024	0.25980	0.075	0.05668	B	.;.	.;.	2.385758	0.30632	18.50	0.99858570715821038	0.93729	0.86534	0.45834	D	AEFDBI	0.174293	0.30142	N	-0.170801131779992	0.34354	1.959851	-0.0690656621641113	0.36676	2.137499	0.999943393572621	0.47345	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	4.97	2.99	0.33673	1.347000	0.33580	0.930000	0.22772	0.676000	0.76740	0.915000	0.31815	0.347000	0.24452	0.973000	0.55318	0.213:0.0:0.6506:0.1363	5.825	0.17804	470	0.78111	.;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain	.	.	.	.	rs17481405	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	917.98	37	chr1	183215528	.	G	A	917.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=967;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=1.77;SOR=0.712	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1220	20	0	1	0
chr1	183227547	183227547	A	G	exonic	LAMC2	.	nonsynonymous SNV	LAMC2:NM_005562:exon10:c.A1318G:p.I440V	Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive	.	0	1491	31	0	0	31	0.0102887	.	.	267281	Junctional_epidermolysis_bullosa|not_provided	MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.44	T	0.983	D	0.672	P	0.019	N	1.000	N	0.345	N	2.49	T	-1.012	T	0.027	T	0.118	0.151	4.811	0.531	-0.157	0.901	5.653	0.032	0.00705583072782	0.0011	0.000599042	0.0015	9.61e-05	0.0025	0	0	0.0020	0.0022	0.0008	0.0013842	214	154602	rs147889360	0.0011	0.0011	0.0010	0.0011	0.0277	0.0010	0.0010	0.0242	0.0229	0.0008	0.0023	0.0167	0	0	0.0277	0.0006	0.0023	0.0009	0.0014	0.0014	0.0012	0.0015	0.0027	0.0012	0.0012	0.0021	0.0019	0.0002	0	0.0027	0.0181	0	0	0.0306	0.0011	0.0033	0.0012	0.89	0.02575	T	0.37	0.16473	T	0.002	0.45051	B	0.007	0.42549	B	0.018984	0.27357	N	0.342667	1	0.08975	N	1.04	0.26193	L	2.49	0.16351	T	0.07	0.06138	N	0.251	0.29889	-1.0117	0.26385	T	0.027	0.11751	T	10	0.004930675	0.00106	T	0.007056	0.18704	T	0.032	0.07718	.	.	0.181679512989	0.17746	0.3558394956187867	0.35497	0.0928677804986	0.10486	0.367219299078	0.20432	T	0.045062	0.27007	T	-0.628756	0.00097	T	-0.682108	0.06855	T	0.0260152463091466	0.01408	T	0.572443	0.20452	T	0.017570067	0.00283	0.022053603	0.00238	0.020624548	0.00627	0.021753127	0.00217	-2.714	0.07421	T	0.13715153916806236	0.15064	0.067	0.02609	B	.;.	.;.	0.861831	0.12343	8.882	0.62781003598174046	0.07051	0.22980	0.21926	N	AEFGBCI	0.349449	0.44323	N	-0.759392715148493	0.14379	0.7158105	-0.756529567948807	0.15562	0.8190704	0.999908789422852	0.45458	0.706298	0.61202	0	0.491513	0.07743	0	0.675528	0.61593	0	0.613276	0.41899	0	.	.	5.57	0.531	0.16303	0.570000	0.23357	0.438000	0.18395	-0.076000	0.16278	0.000000	0.06391	0.433000	0.24865	0.963000	0.52385	0.559:0.2425:0.1985:0.0	5.653	0.16903	498	0.76166	.;EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1565.98	33	chr1	183227547	.	A	G	1565.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.238e+00;DP=826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.43;ReadPosRankSum=1.49;SOR=0.655	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1297	20	0	1	0
chr1	183235717	183235717	G	A	exonic	LAMC2	.	nonsynonymous SNV	LAMC2:NM_005562:exon16:c.G2443A:p.G815R	Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive	.	1	1517	4	0	0	4	0.00131666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.026	B	0.025	B	0.001	N	0.999	D	1.01	L	2.48	T	-1.078	T	0.034	T	0.257	1.455	10.81	4.93	1.484	3.874	12.206	0.043	0.0111965103191	.	.	0.0002	9.653e-05	8.712e-05	0	0	0.0002	0.0011	0.0004	0.0001552	24	154602	rs149894293	7.798e-05	7.798e-05	7.487e-05	8.113e-05	0.0012	6.6e-05	6.142e-05	0.0006	0.0004	2.987e-05	2.236e-05	0	7.558e-05	0	0.0012	7.104e-05	0.0002	9.276e-05	5.912e-05	5.91e-05	6.421e-05	5.379e-05	0.0001	3.077e-05	2.21e-05	4.764e-05	3.338e-05	4.825e-05	0	0	0	0	0	0	0.0001	0	0	0.076	0.34269	T	0.781	0.04316	T	0.026	0.19406	B	0.025	0.20508	B	0.001248	0.39669	N	0.219539	0.997654	0.46434	D	1.685	0.43254	L	2.48	0.16492	T	-0.42	0.14193	N	0.461	0.49783	-1.0780	0.07741	T	0.034	0.14464	T	10	0.12865421	0.24473	T	0.011197	0.28580	T	0.043	0.11576	0.399	0.42753	0.472504041403	0.46879	0.4097116171868349	0.40887	0.139219442409	0.15689	0.422699153423	0.28207	T	0.075658	0.35230	T	-0.386145	0.02848	T	-0.513012	0.21006	T	0.0694279819726944	0.08571	T	0.723528	0.33695	T	0.10391202	0.24562	0.09692528	0.23050	0.10391202	0.24562	0.09692528	0.23049	-4.229	0.27169	T	.	.	0.155	0.34427	B	.;.	.;.	2.890356	0.38275	20.7	0.95237959267970973	0.26478	0.80220	0.39916	D	AEFDGBHCI	0.541129	0.55741	D	-0.288443839471195	0.29593	1.642511	-0.14937746366528	0.33432	1.912341	0.999999999470085	0.74766	0.75658	0.98901	0	0.547309	0.14657	0	0.858454	0.99976	0	0.651492	0.60203	0	.	.	5.84	4.93	0.64394	3.986000	0.56647	9.884000	0.82221	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.340000	0.25432	0.0797:0.0:0.9203:0.0	12.206	0.53665	514	0.74853	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1065.98	38	chr1	183235717	.	G	A	1065.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.937;DP=777;ExcessHet=0.0000;FS=2.007;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.03;ReadPosRankSum=0.390;SOR=0.991	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1214	20	0	1	0
chr1	183542209	183542209	G	A	exonic	SMG7	.	nonsynonymous SNV	SMG7:NM_001174061:exon13:c.G1423A:p.A475T	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.0	B	0.001	B	0.561	N	1.000	N	0.205	N	2.26	T	-0.950	T	0.022	T	0.208	0.759	8.020	0.237	-0.225	0.537	5.898	0.076	0.00243736764433	.	.	4.127e-05	0	0	0.0002	0	4.505e-05	0	0	3.23e-05	5	154602	rs762238851	2.052e-05	2.052e-05	2.178e-05	1.925e-05	0.0002	1.456e-05	1.264e-05	2.194e-05	1.43e-05	0	0	0	7.558e-05	0	0.0002	1.709e-05	3.311e-05	5.797e-05	2.629e-05	2.627e-05	2.57e-05	2.691e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.415e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.413	0.13699	T	1.0	0.07568	T	0.0	0.02946	B	0.0	0.01387	B	0.561311	0.11333	N	0.828915	1	0.08975	N	-0.345	0.03330	N	2.25	0.22678	T	0.23	0.11185	N	0.043	0.02462	-0.9496	0.41040	T	0.022	0.09559	T	10	0.026864976	0.00844	T	0.002437	0.04813	T	0.076	0.22200	0.164	0.06842	0.258436476835	0.25460	0.12941891495100005	0.12866	0.129818777364	0.14634	0.250475764275	0.03818	T	0.010948	0.09827	T	-0.493049	0.00626	T	-0.645684	0.09260	T	0.00566275116164346	0.00062	T	0.79972	0.44511	T	0.020865012	0.00661	0.0334215	0.02234	0.020865012	0.00661	0.0334215	0.02234	-3.563	0.17871	T	.	.	0.062	0.02639	B	.;.;.;.;.;.	.;.;.;.;.;.	0.838812	0.12104	8.656	0.86540434697327595	0.16605	0.06901	0.12927	N	AEFBI	0.047227	0.07929	N	-0.984698222213357	0.08929	0.4206251	-0.924479713625084	0.11517	0.587208	0.0567898707025779	0.15068	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	0.237	0.14737	0.559000	0.23190	0.812000	0.21762	0.676000	0.76740	0.000000	0.06391	0.116000	0.22850	0.994000	0.71098	0.3348:0.0:0.5477:0.1175	5.898	0.18190	470	0.78111	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	902.98	33	chr1	183542209	.	G	A	902.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.070e+00;DP=762;ExcessHet=0.0000;FS=1.022;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.30;ReadPosRankSum=-1.226e+00;SOR=0.544	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr1	183553061	183553061	G	T	exonic	SMG7	.	nonsynonymous SNV	SMG7:NM_201569:exon23:c.G3397T:p.G1133W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.876	P	0.237	B	0.062	N	1.000	N	0	N	2.08	T	-1.039	T	0.030	T	0.287	0.488	6.650	3.77	2.178	2.254	7.714	0.073	0.0161515713187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.445e-06	2.736e-06	1.427e-06	1.464e-06	1.262e-05	2.4e-07	9e-08	.	.	0	0	0	0	0	0	0	1.726e-05	1.262e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	0.062355	0.02154	N	2.593550	1	0.08975	N	.	.	.	2.08	0.20255	T	-0.08	0.08187	N	0.38	0.42149	-1.0391	0.17587	T	0.030	0.13067	T	10	0.19296825	0.35047	T	0.016152	0.37263	T	0.073	0.21317	0.276	0.22845	0.117191471859	0.11215	0.02494300650821843	0.02445	0.158314735525	0.17880	0.314752131701	0.12625	T	.	.	.	-0.162522	0.26374	T	-0.471228	0.25383	T	0.905675649642944	0.55948	D	0.344866	0.07558	T	.	.	.	.	.	.	.	.	-4.901	0.35746	T	.	.	0.219	0.44885	B	.	.	1.163753	0.15528	11.92	0.98567413912056245	0.43063	0.59375	0.30898	D	AEFDBCI	0.211599	0.33737	N	-0.176977417997289	0.34094	1.941998	-0.175400275845768	0.32444	1.84586	0.560183876900668	0.21407	0.722319	0.85440	0	0.702456	0.74545	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	4.75	3.77	0.42499	2.480000	0.44865	4.678000	0.44308	0.676000	0.76740	0.987000	0.36337	1.000000	0.68203	0.120000	0.19168	0.0:0.2796:0.5654:0.155	7.714	0.27860	702	0.57624	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1737.98	34	chr1	183553061	.	G	T	1737.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.830e-01;DP=828;ExcessHet=0.0000;FS=1.501;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.60;ReadPosRankSum=0.081;SOR=0.520	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr1	183647724	183647724	C	G	exonic	APOBEC4	.	nonsynonymous SNV	APOBEC4:NM_203454:exon2:c.G1058C:p.S353T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.83	T	0.455	P	0.1	B	0.320	N	1.000	N	0.46	N	2.71	T	-0.976	T	0.016	T	0.031	-1.777	0.010	1.16	0.209	1.202	9.466	0.051	0.00588775622545	.	0.000399361	0.0002	0	0	0	0	1.503e-05	0	0.0011	0.0001358	21	154602	rs200661894	8.784e-05	8.756e-05	7.501e-05	0.0001	0.0006	7.511e-05	7.057e-05	0.0005	0.0004	2.999e-05	0	0	0	0	0	6.135e-05	0.0001	0.0006	3.283e-05	3.281e-05	2.57e-05	4.029e-05	0.0004	1.26e-05	7.98e-06	7.293e-05	3.03e-05	0	0	0	0	0	0	0	4.409e-05	0	0.0004	0.776	0.03326	T	0.817	0.03863	T	0.455	0.36245	P	0.1	0.30674	B	0.320243	0.14283	N	0.620429	1	0.08975	N	2.045	0.56016	M	2.71	0.12055	T	-0.62	0.18248	N	0.157	0.16308	-0.9755	0.36015	T	0.016	0.06473	T	10	0.013457894	0.00285	T	0.005888	0.15340	T	0.051	0.14325	0.089	0.00982	0.17948927462	0.17512	0.08695108277925806	0.08629	0.10765007991	0.12148	0.281306445599	0.07675	T	0.003042	0.02443	T	-0.647314	0.00075	T	-0.784382	0.02324	T	0.0330791527988093	0.02485	T	0.357364	0.08134	T	0.058304437	0.11712	0.056868237	0.10236	0.058304437	0.11712	0.056868237	0.10236	-3.975	0.23428	T	.	.	0.085	0.10014	B	.	.	0.587207	0.09555	6.332	0.54058742567128593	0.05062	0.29397	0.23811	N	AEFDBI	0.072390	0.14445	N	-0.901986661304297	0.10796	0.5176716	-0.93141332961804	0.11354	0.5779466	0.3802333333029	0.19954	0.554377	0.28877	0	0.601575	0.49859	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.15	1.16	0.19936	1.314000	0.33202	0.332000	0.17294	0.599000	0.40250	0.022000	0.19841	0.000000	0.08366	0.021000	0.11733	0.0:0.7005:0.0:0.2995	9.466	0.37975	698	0.58074	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1490.98	34	chr1	183647724	.	C	G	1490.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.745;DP=865;ExcessHet=0.0000;FS=0.684;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.74;ReadPosRankSum=1.64;SOR=0.621	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1190	20	0	1	0
chr1	183647836	183647836	T	G	exonic	APOBEC4	.	nonsynonymous SNV	APOBEC4:NM_203454:exon2:c.A946C:p.I316L,	.	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.019	B	0.015	B	0.163	N	0.998	N	0.805	L	2.5	T	-1.008	T	0.023	T	0.192	0.266	5.440	-0.728	-0.037	-0.026	10.544	0.032	0.00417134733337	.	0.000199681	0.0001	0	0	0	0	0	0	0.0010	0.00011	17	154602	rs542021279	5.336e-05	5.336e-05	3.539e-05	7.15e-05	0.0008	4.344e-05	4.017e-05	0.0006	0.0006	2.987e-05	0	0	0	0	0.0002	0	0.0001	0.0008	1.969e-05	1.968e-05	1.285e-05	2.684e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	0	0	0.0006	0.035	0.43708	D	0.057	0.46406	T	0.019	0.17989	B	0.015	0.17295	B	0.163236	0.17597	N	0.433325	0.99837	0.22200	N	2.015	0.55033	M	2.5	0.14408	T	-1.83	0.42957	N	0.225	0.25253	-1.0082	0.27479	T	0.023	0.09696	T	10	0.015645653	0.00328	T	0.004171	0.10026	T	0.032	0.07718	0.195	0.10705	0.0884992946249	0.08302	0.12355493305583413	0.12281	0.110268083258	0.12439	0.282755851746	0.07880	T	0.011071	0.09921	T	-0.545833	0.00309	T	-0.642333	0.09500	T	0.0383131094276905	0.03388	T	0.483452	0.14697	T	0.09709639	0.22883	0.11713601	0.28278	0.09709639	0.22882	0.11713601	0.28277	-3.165	0.12058	T	.	.	0.203	0.42720	B	.	.	0.879689	0.12528	9.058	0.86381792654258005	0.16498	0.27971	0.23425	N	AEFBI	0.152793	0.27754	N	-1.02986557261183	0.07988	0.373008	-1.03984096219561	0.08919	0.4410074	0.322466775747345	0.19398	0.554377	0.28877	0	0.601575	0.49859	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.15	-0.728	0.10599	-0.046000	0.11937	-0.395000	0.09449	-0.201000	0.08892	0.429000	0.26401	0.000000	0.08366	0.377000	0.26268	0.0:0.522:0.0:0.478	10.544	0.44238	698	0.58074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1766.98	107	chr1	183647836	.	T	G	1766.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.20;DP=2001;ExcessHet=0.0000;FS=0.636;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=-2.120e-01;SOR=0.783	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1190	20	0	1	0
chr1	183969334	183969334	G	T	exonic	COLGALT2	.	nonsynonymous SNV	COLGALT2:NM_001303420:exon5:c.C767A:p.P256Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.996	D	0.000	D	1.000	D	2.585	M	1.97	T	-0.802	T	0.175	T	0.824	4.933	28.6	5.45	2.557	9.438	19.270	0.531	0.0218109171158	.	.	8.243e-06	0	0	0	0	0	0	6.064e-05	6.5e-06	1	154602	rs779082349	1.232e-05	1.231e-05	1.361e-05	1.1e-05	0.0001	7.7e-06	6.35e-06	7.126e-05	5.484e-05	2.988e-05	2.237e-05	0	0	0	0	3.598e-06	1.656e-05	0.0001	1.316e-05	1.314e-05	1.286e-05	1.347e-05	0.0002	2.19e-06	8.2e-07	.	.	2.417e-05	0	0	0	0	0	0	0	0	0.0002	0.015	0.52492	D	0.12	0.35970	T	0.997	0.70673	D	0.98	0.74843	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.56	0.74772	M	1.97	0.22067	T	-4.63	0.79229	D	0.791	0.78737	-0.8024	0.55003	T	0.175	0.51832	T	10	0.758268	0.76148	D	0.021811	0.44628	T	0.531	0.80247	0.413	0.45052	0.772153048895	0.77006	0.7565296805866395	0.75600	0.438902184264	0.43921	0.609135389328	0.54192	T	0.203289	0.56171	T	0.0689312	0.60719	T	-0.0381315	0.67828	D	0.964373528957367	0.66939	D	0.997794	0.99079	D	0.44936764	0.64001	0.40572086	0.64965	0.44936764	0.64001	0.40572086	0.64965	-10.072	0.74342	D	.	.	0.366	0.62776	A	.;.	.;.	5.029651	0.83645	28.1	0.99323320706603724	0.59469	0.98926	0.88723	D	AEFBI	0.946979	0.95702	D	0.904598564509139	0.91984	11.16976	0.868909335329239	0.94070	12.483	0.999999999999886	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.542086	0.14980	0	.	.	5.45	5.45	0.79688	9.569000	0.97327	9.818000	0.81786	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	19.270	0.93993	866	0.32446	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1545.98	39	chr1	183969334	.	G	T	1545.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.750e-01;DP=874;ExcessHet=0.0000;FS=0.656;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=-2.390e-01;SOR=0.597	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1121	20	0	1	0
chr1	184754587	184754587	T	G	exonic	EDEM3	.	nonsynonymous SNV	EDEM3:NM_001319960:exon1:c.A60C:p.R20S	.	.	429	1044	48	1	0	50	0.0233863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.0	B	0.0	B	0.139	N	1.000	D	0	N	-0.61	T	-1.061	T	0.042	T	0.17	1.465	10.84	4.76	1.231	1.683	10.384	0.094	.	.	0.0119808	0.0072	0.0013	0.0020	0.0414	0.0005	0.0026	0.0076	0.0151	0.0052781	816	154602	rs193034365	0.0030	0.0030	0.0027	0.0033	0.0248	0.0029	0.0029	0.0235	0.0230	0.0005	0.0011	0.0068	0.0248	7.626e-05	0.0128	0.0014	0.0058	0.0135	0.0028	0.0028	0.0029	0.0028	0.0357	0.0026	0.0025	0.0315	0.0299	0.0005	0	0.0016	0.0069	0.0357	0.0002	0.0034	0.0016	0.0052	0.0110	0.987	0.01979	T	0.745	0.04895	T	0.0	0.02946	B	0.0	0.01387	B	0.139084	0.18355	N	0.501789	0.999987	0.18198	N	0	0.06538	N	-0.61	0.71779	T	0.53	0.02808	N	0.111	0.09772	-1.0611	0.11483	T	0.042	0.18076	T	10	0.007667631	0.00174	T	.	.	.	0.094	0.27141	0.619	0.75347	0.5688587536	0.56550	0.2612104138876145	0.26034	0.174374383467	0.19631	0.731880187988	0.71781	T	0.019733	0.15664	T	-0.374854	0.03356	T	-0.279093	0.46896	T	0.039269934940123	0.03559	T	0.305069	0.05837	T	0.09925845	0.23422	0.115757614	0.27944	0.1345001	0.31247	0.115757614	0.27943	-4.335	0.28664	T	.	.	0.104	0.19032	B	.	.	2.720633	0.35583	19.94	0.80142828398531007	0.13064	0.00895	0.03516	N	ALL	.	.	.	-0.544015440680604	0.20671	1.091455	-0.319936607149643	0.27455	1.52358	0.999999999999222	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.239995	0.05000	1	0.372554	0.06265	0	.	.	4.76	4.76	0.60189	1.851000	0.38978	8.248000	0.76859	-0.128000	0.13240	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:0.0:0.8045:0.1955	10.384	0.43312	583	0.69484	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1268.98	39	chr1	184754587	.	T	G	1268.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.830e-01;DP=882;ExcessHet=0.0000;FS=0.676;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.32;ReadPosRankSum=-9.880e-01;SOR=0.783	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1575	20	0	1	0
chr1	184795360	184795360	C	T	exonic	NIBAN1	.	nonsynonymous SNV	NIBAN1:NM_052966:exon14:c.G2404A:p.G802R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.944	P	0.733	P	0.026	N	1.000	N	0.695	N	2.27	T	-1.016	T	0.056	T	0.148	3.419	17.56	4.33	2.444	0.851	10.155	0.116	0.0132914161191	.	0.00159744	0.0008	0	0	0	0	1.546e-05	0.0011	0.0057	0.0006404	99	154602	rs563889793	0.0003	0.0003	0.0002	0.0005	0.0052	0.0003	0.0003	0.0048	0.0046	0	0	0	0	0	0	3.605e-06	0.0003	0.0052	0.0001	0.0001	7.709e-05	0.0002	0.0039	8.658e-05	7.251e-05	0.0026	0.0021	0	0	0	0	0	0	0	1.47e-05	0	0.0039	0.013	0.53900	D	0.339	0.18071	T	0.944	0.53183	P	0.733	0.55393	P	0.026305	0.01646	N	2.481470	1	0.08975	N	1.795	0.47270	L	2.27	0.17431	T	-1.2	0.30555	N	0.112	0.09914	-1.0161	0.24980	T	0.056	0.23639	T	10	0.004752487	0.00100	T	0.013291	0.32578	T	0.116	0.32463	0.16	0.06396	0.348983352498	0.34513	0.0943833513922089	0.09370	0.101090671826	0.11430	0.296744167805	0.09918	T	0.031961	0.22276	T	-0.56609	0.00233	T	-0.584145	0.14177	T	0.100819790677895	0.12447	T	0.524848	0.17228	T	0.11384693	0.26882	0.097025625	0.23077	0.11384693	0.26881	0.097025625	0.23077	-5.044	0.37314	T	.	.	0.094	0.14523	B	.	.	1.874239	0.23810	16.16	0.99700562812674509	0.80591	0.09494	0.15237	N	AEFBI	0.108682	0.21612	N	-0.265678397326983	0.30483	1.700099	-0.364677307415998	0.26059	1.43696	0.86177867183532	0.25240	0.660377	0.49826	0	0.694456	0.67091	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.25	4.33	0.51083	1.019000	0.29616	1.576000	0.27446	0.599000	0.40250	0.001000	0.13787	0.002000	0.18203	0.014000	0.10232	0.0:0.9047:0.0:0.0953	10.155	0.41991	623	0.65786	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2056.98	33	chr1	184795360	.	C	T	2056.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.36;DP=880;ExcessHet=0.0000;FS=2.125;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.59;ReadPosRankSum=1.46;SOR=0.910	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1336	20	0	1	0
chr1	185182016	185182016	G	A	exonic	SWT1	.	nonsynonymous SNV	SWT1:NM_001105518:exon7:c.G1097A:p.S366N	.	.	437	1083	2	0	0	2	0.000922509	.	.	2356240	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.125	B	0.019	B	0.000	N	0.994	N	0.46	N	2.01	T	-1.058	T	0.034	T	0.039	1.964	12.52	3.83	0.358	1.868	13.640	0.105	0.00417787325029	.	.	9.888e-05	0	8.646e-05	0	0	0.0002	0	0	7.76e-05	12	154602	rs746471398	8.554e-05	8.551e-05	7.218e-05	9.904e-05	0.0007	7.315e-05	6.818e-05	0.0002	0.0001	0	6.708e-05	0.0014	0	0	0.0007	4.228e-05	0.0004	0.0001	9.851e-05	9.843e-05	0.0001	5.372e-05	6.533e-05	6.004e-05	4.877e-05	1.972e-05	1.125e-05	0	0	6.533e-05	0.0020	0	0	0.0034	5.882e-05	0.0009	0	0.123	0.27544	T	0.083	0.41405	T	0.125	0.26866	B	0.019	0.18783	B	0.000003	0.62929	N	0.103566	0.994324	0.23542	N	1.465	0.36909	L	2.01	0.21291	T	-0.88	0.23808	N	0.215	0.24010	-1.0578	0.12311	T	0.034	0.14421	T	10	0.03128484	0.01262	T	0.004178	0.10058	T	0.105	0.29889	.	.	0.0551355673512	0.04727	0.291560024923369	0.29069	0.169117213538	0.19062	0.475270807743	0.35407	T	0.017712	0.14403	T	-0.512196	0.00488	T	-0.699211	0.05869	T	0.0205262229286457	0.00752	T	0.651635	0.26249	T	0.11238411	0.26550	0.12545548	0.30228	0.11238411	0.26550	0.12545548	0.30227	-7.229	0.55689	T	.	.	0.095	0.15070	B	.;.	.;.	1.672697	0.21327	15.15	0.87486049850826908	0.17262	0.83932	0.43022	D	AEFI	0.123129	0.23859	N	-0.638964919150856	0.17782	0.9179868	-0.450274349419518	0.23541	1.28432	7.07190886132574E-4	0.07666	0.651	0.46895	0	0.588015	0.36545	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	5.71	3.83	0.43287	1.960000	0.40046	1.466000	0.26718	-0.800000	0.03169	1.000000	0.71638	0.949000	0.28973	0.985000	0.61073	0.136:0.0:0.864:0.0	13.640	0.61718	442	0.79946	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1277.98	37	chr1	185182016	.	G	A	1277.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.155e+00;DP=911;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.40;ReadPosRankSum=-8.010e-01;SOR=0.710	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr1	185206667	185206667	C	G	exonic	SWT1	.	nonsynonymous SNV	SWT1:NM_001105518:exon13:c.C1876G:p.Q626E	.	.	441	1079	1	1	0	3	0.00138825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.622	P	0.183	B	0.003	N	0.682	N	1.79	L	2.15	T	-1.075	T	0.044	T	0.158	2.507	14.34	4.72	2.683	1.852	10.214	0.060	.	.	0.00279553	0.0023	0	8.721e-05	0.0001	0	0	0.0011	0.0164	0.0019146	296	154602	rs574089489	0.0009	0.0010	0.0005	0.0014	0.0149	0.0009	0.0009	0.0142	0.0140	6.005e-05	4.557e-05	0	2.534e-05	0	0.0003	3.608e-06	0.0014	0.0149	0.0004	0.0004	0.0002	0.0007	0.0139	0.0004	0.0003	0.0112	0.0102	0	0	0	0	0	0	0	0	0	0.0139	0.042	0.41637	D	0.022	0.57587	D	0.622	0.39964	P	0.183	0.35961	B	0.002602	0.36243	N	0.306169	0.682345	0.30267	N	2.205	0.62170	M	2.15	0.19311	T	-1.19	0.30346	N	0.214	0.24135	-1.0751	0.08328	T	0.044	0.18906	T	10	0.010387689	0.00231	T	.	.	.	0.060	0.17295	0.376	0.38994	0.381239546501	0.37731	0.322739464724848	0.32186	0.31532874122	0.33813	0.375013560057	0.21548	T	0.009948	0.09021	T	-0.536187	0.00353	T	-0.530648	0.19221	T	0.0279037426539749	0.01674	T	0.821518	0.48098	T	0.14677517	0.33583	0.1709339	0.39238	0.14677517	0.33583	0.1709339	0.39238	-8.655	0.65451	D	.	.	0.078	0.08224	B	.;.	.;.	2.732463	0.35768	19.98	0.98472776252036032	0.41873	0.81486	0.40880	D	AEFI	0.143060	0.26566	N	0.178793342352826	0.50180	3.210668	0.284518740532891	0.54636	3.627942	4.34003300652479E-5	0.03989	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.69	4.72	0.59248	2.048000	0.40903	4.832000	0.45208	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1508:0.7033:0.1459:0.0	10.214	0.42335	486	0.77016	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1496.98	36	chr1	185206667	.	C	G	1496.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=839;ExcessHet=0.0000;FS=2.075;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.25;ReadPosRankSum=-1.170e+00;SOR=0.886	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1062	20	0	1	0
chr1	186007167	186007167	C	G	exonic	HMCN1	.	nonsynonymous SNV	HMCN1:NM_031935:exon30:c.C4515G:p.D1505E,	.	.	433	1063	26	0	0	26	0.0120818	.	.	277902	not_provided|Age_related_macular_degeneration_1	MedGen:C3661900|MONDO:MONDO:0011285,MedGen:C1864205,OMIM:603075	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.66	T	0.003	B	0.026	B	0.000	N	0.993	D	0.075	N	-0.16	T	-1.098	T	0.078	T	0.019	0.593	7.201	0.587	-0.059	0.691	1.474	0.088	.	0.0014	0.00459265	0.0034	0	0.0008	0.0001	0.0006	0.0015	0.0022	0.0176	0.0030207	467	154602	rs146532107	0.0019	0.0019	0.0015	0.0024	0.0160	0.0019	0.0019	0.0153	0.0151	5.98e-05	0.0007	0.0005	0.0002	0.0009	0.0056	0.0011	0.0020	0.0160	0.0014	0.0014	0.0011	0.0016	0.0141	0.0012	0.0011	0.0114	0.0105	0.0002	0	0.0010	0	0.0004	0.0006	0.0034	0.0015	0.0010	0.0141	0.723	0.03892	T	0.95	0.02617	T	0.003	0.11197	B	0.026	0.20792	B	0.000214	0.47681	N	0.244896	0.992659	0.41705	D	-0.18	0.04256	N	-0.16	0.65378	T	-0.01	0.07155	N	0.217	0.24260	-1.0981	0.04328	T	0.078	0.31163	T	10	0.007970095	0.00181	T	.	.	.	0.088	0.25558	0.339	0.32979	0.408714661073	0.40485	0.3839796956562825	0.38312	0.444899541595	0.44388	0.348350644112	0.17679	T	.	.	.	-0.608373	0.00130	T	-0.633036	0.10185	T	0.0214624194731387	0.00850	T	0.719228	0.33234	T	0.02913042	0.02360	0.031024221	0.01634	0.02913042	0.02359	0.031024221	0.01634	-3.833	0.21298	T	.	.	0.114	0.22537	B	.	.	1.624586	0.20745	14.89	0.74242902433876157	0.10623	0.88403	0.48315	D	AEFI	0.452470	0.50601	N	-0.607529084871421	0.18717	0.9739839	-0.425686806094848	0.24246	1.326678	0.14332182464736	0.17313	0.615465	0.37627	0	0.573888	0.26702	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.76	0.587	0.16623	0.713000	0.25464	0.429000	0.18304	0.599000	0.40250	0.997000	0.40164	0.983000	0.30585	0.999000	0.91618	0.2203:0.3811:0.2143:0.1843	1.474	0.02274	407	0.82314	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	1290.98	35	chr1	186007167	.	C	G	1290.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.44;DP=803;ExcessHet=0.0000;FS=4.524;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.67;ReadPosRankSum=1.33;SOR=1.115	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,990	20	0	1	0
chr1	186137584	186137584	A	G	exonic	HMCN1	.	nonsynonymous SNV	HMCN1:NM_031935:exon88:c.A13669G:p.N4557D,	.	.	.	.	.	.	.	.	.	.	.	1922197	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.62	T	0.039	B	0.027	B	0.000	N	0.957	D	1.145	L	0.6	T	-1.034	T	0.103	T	0.18	1.841	12.12	4.62	0.970	3.573	9.030	0.059	0.0300111429584	.	.	2.496e-05	9.679e-05	0	0	0	3.02e-05	0	0	2.59e-05	4	154602	rs761861868	4.721e-05	4.72e-05	4.084e-05	5.364e-05	0.0003	3.794e-05	3.476e-05	6.099e-05	4.197e-05	0	0	0	0	0	0.0003	5.756e-05	4.969e-05	0	1.971e-05	1.97e-05	1.284e-05	2.689e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.044	0.41096	D	0.234	0.24840	T	0.039	0.21116	B	0.027	0.21085	B	0.000000	0.84330	N	0.081791	0.957392	0.38022	D	0.335	0.10427	N	0.6	0.53731	T	-1.45	0.35597	N	0.3	0.33904	-1.0341	0.19141	T	0.103	0.38044	T	10	0.22891727	0.39807	T	0.030011	0.52407	D	0.059	0.16972	0.726	0.86024	0.552408913969	0.54898	0.40195081300469293	0.40111	0.293770034353	0.31797	0.440950244665	0.30707	T	.	.	.	-0.292605	0.09376	T	-0.476555	0.24814	T	0.159246265888214	0.17815	T	0.782522	0.41827	T	0.19534008	0.41319	0.13181935	0.31645	0.19534008	0.41319	0.13181935	0.31644	-4.303	0.28219	T	.	.	0.111	0.21541	B	.	.	1.451441	0.18725	13.89	0.9677739181075945	0.31061	0.90656	0.52014	D	AEFDGBI	0.304173	0.41195	N	-0.327053633046254	0.28124	1.548676	-0.167937302110018	0.32724	1.864606	0.0426098166133215	0.14533	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.78	4.62	0.56946	3.568000	0.53564	2.731000	0.34388	0.756000	0.94297	1.000000	0.71638	0.980000	0.30356	0.544000	0.30032	0.794:0.0:0.206:0.0	9.030	0.35414	644	0.63734	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1340.98	37	chr1	186137584	.	A	G	1340.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.600e-01;DP=787;ExcessHet=0.0000;FS=0.831;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=-1.037e+00;SOR=0.876	GT:AD:DP:GQ:PL	0/1:39,56:95:99:1355,0,926	20	0	1	0
chr1	186189681	186189681	A	G	exonic	HMCN1	.	nonsynonymous SNV	HMCN1:NM_031935:exon107:c.A16711G:p.M5571V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.002	B	0.001	B	0.000	D	0.729	N	-0.625	N	0.04	T	-1.071	T	0.098	T	0.321	0.129	4.693	5.91	2.254	4.948	16.348	0.111	0.0152425388681	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1299679218	4.109e-06	4.104e-06	5.449e-06	2.754e-06	4.501e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.501e-06	1.658e-05	0	6.576e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.173	0.22573	T	0.615	0.07568	T	0.002	0.09854	B	0.001	0.04355	B	0.000056	0.53742	D	0.226324	0.729483	0.33703	D	0.55	0.14455	N	0.04	0.62051	T	-0.27	0.11366	N	0.109	0.09490	-1.0707	0.09260	T	0.098	0.36780	T	10	0.15104657	0.28558	T	0.015243	0.35857	T	0.111	0.31313	0.541	0.65304	0.567244179635	0.56389	0.5160585409980083	0.51528	0.183666446996	0.20656	0.434764355421	0.29861	T	.	.	.	-0.0896434	0.38135	T	-0.366543	0.37293	T	0.812659978866577	0.47237	D	0.827217	0.49094	T	0.13251725	0.30853	0.16134395	0.37533	0.13251725	0.30853	0.16134395	0.37532	-1.513	0.01791	T	.	.	0.177	0.38640	B	.	.	2.200413	0.28064	17.67	0.41742298456205973	0.03031	0.88292	0.48154	D	AEFGBI	0.359619	0.44988	N	-0.291911127613913	0.29459	1.633865	-0.0120119162247708	0.39171	2.31854	0.999999998982101	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.662433	0.64102	0	.	.	5.91	5.91	0.95240	4.971000	0.63464	5.469000	0.48692	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	1.0:0.0:0.0:0.0	16.348	0.83004	662	0.61715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1707.98	36	chr1	186189681	.	A	G	1707.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.190e-01;DP=845;ExcessHet=0.0000;FS=6.015;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=0.122;SOR=1.142	GT:AD:DP:GQ:PL	0/1:78,69:147:99:1722,0,2003	20	0	1	0
chr1	186307967	186307967	G	A	exonic	PRG4	.	nonsynonymous SNV	PRG4:NM_001127710:exon4:c.G1846A:p.A616T	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Autosomal recessive	.	5	1510	6	0	1	7	0.00198282	.	.	2806266	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.022	B	0.004	B	.	.	1.000	N	0.145	N	3.41	T	-0.922	T	0.005	T	0.241	-0.039	3.817	-3.23	-0.789	-1.623	2.402	0.004	0.00585126972514	0.0031	0.000798722	0.0027	0.0017	0.0010	0	0.0062	0.0036	0.0011	0.0011	0.0025032	387	154602	rs143599637	0.0032	0.0032	0.0033	0.0032	0.0035	0.0032	0.0031	0.0034	0.0034	0.0014	0.0009	0.0001	0	0.0092	0.0007	0.0035	0.0029	0.0008	0.0029	0.0030	0.0031	0.0028	0.0042	0.0027	0.0026	0.0038	0.0037	0.0012	0	0.0007	0.0003	0	0.0087	0	0.0042	0.0025	0.0004	0.231	0.20988	T	0.664	0.11968	T	0.007	0.18677	B	0.002	0.10090	B	.	.	.	.	1	0.08975	N	1.525	0.38595	L	3.41	0.05918	T	-0.66	0.19085	N	0.039	0.01274	-0.9220	0.45279	T	0.005	0.01797	T	8	0.0061532855	0.00138	T	0.005851	0.15221	T	0.004	0.00165	.	.	0.0138822411134	0.00435	0.06282957356091382	0.06221	0.0347315596019	0.03653	0.171398892999	0.00038	T	0.012731	0.17204	T	-0.582781	0.00185	T	-0.610739	0.11925	T	0.00751715731410261	0.00087	T	0.642936	0.28377	T	0.017116984	0.00247	0.06316367	0.12472	0.024359366	0.01259	0.050057247	0.07778	-5.851	0.49595	T	.	.	0.079	0.17360	B	.;.;.;.;.	.;.;.;.;.	0.143346	0.05369	1.850	0.39058893340488576	0.02672	0.00103	0.00666	N	AEFI	0.109171	0.21693	N	-1.43272742374902	0.02356	0.103947	-1.54327704816008	0.02022	0.09243663	7.16845295895567E-4	0.07685	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.62	-3.23	0.04794	-0.989000	0.03846	-1.857000	0.04601	0.338000	0.19717	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3007:0.0:0.3091:0.3903	2.402	0.04136	259	0.89842	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	2843.98	80	chr1	186307967	.	G	A	2843.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.126;DP=1374;ExcessHet=0.0000;FS=1.513;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=1.95;QD=11.38;ReadPosRankSum=0.698;SOR=0.797	GT:AD:DP:GQ:PL	0/0:73,0:73:99:0,120,1800	20	0	1	0
chr1	186308660	186308660	C	T	exonic	PRG4	.	nonsynonymous SNV	PRG4:NM_001127710:exon4:c.C2539T:p.L847F	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Autosomal recessive	.	10	1510	1	1	0	3	0.000992392	.	.	706937	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.38	T	0.919	P	0.605	P	0.578	N	1.000	N	1.32	L	3.56	T	-0.987	T	0.023	T	0.234	0.196	5.057	1.18	0.091	-0.331	4.963	0.033	.	.	0.00219649	0.0014	0	0.0003	0	0	0	0	0.0103	0.0012096	187	154602	rs371459140	0.0006	0.0006	0.0004	0.0009	0.0101	0.0006	0.0006	0.0095	0.0093	6.02e-05	6.767e-05	0	0.0002	0	0.0010	8.996e-07	0.0006	0.0101	0.0003	0.0003	0.0002	0.0004	0.0089	0.0002	0.0002	0.0068	0.0061	0	0	0	0	0	0	0	0	0	0.0089	0.323	0.32769	T	0.155	0.40747	T	0.868	0.50927	P	0.4	0.50945	B	0.577958	0.05518	N	1.290110	1	0.08975	N	1.4	0.35362	L	3.5	0.05440	T	-1.4	0.49846	N	0.065	0.03841	-0.9873	0.33273	T	0.023	0.09650	T	10	0.003922969	0.00075	T	.	.	.	0.033	0.08068	0.165	0.06955	0.0138822411134	0.00435	0.06158132568405617	0.06098	0.0373032422438	0.03956	0.184219866991	0.00139	T	0.026645	0.49848	T	-0.583923	0.00182	T	-0.602147	0.12631	T	0.0383185027328612	0.03389	T	0.311769	0.31676	T	0.046139937	0.07671	0.06960621	0.14688	0.06306345	0.13240	0.07173095	0.15394	-5.791	0.44513	T	.	.	0.136	0.39081	B	.;.;.;.;.	.;.;.;.;.	0.431606	0.08022	4.738	0.70690600210098298	0.09379	0.09022	0.14859	N	AEFDGI	0.579125	0.58006	D	-0.578555364354761	0.19596	1.026892	-0.765953158891994	0.15332	0.8057595	0.00323749631505505	0.10007	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.645665	0.59343	0	.	.	3.66	1.18	0.20058	-0.677000	0.05315	-0.314000	0.10017	-0.240000	0.07525	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1865:0.601:0.1297:0.0827	4.963	0.13425	259	0.89842	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	2328.98	80	chr1	186308660	.	C	T	2328.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.626;DP=1203;ExcessHet=0.0000;FS=0.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.03;ReadPosRankSum=0.174;SOR=0.788	GT:AD:DP:GQ:PL	0/0:73,0:73:99:0,120,1800	20	0	1	0
chr1	186326198	186326200	TCA	-	exonic	TPR	.	nonframeshift deletion	TPR:NM_003292:exon41:c.5925_5927del:p.D1975del,	.	.	421	1093	6	0	2	8	0.00273723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0.0001	0	8.237e-05	0	0.0005	0.0001294	20	154602	rs748538527	8.108e-05	0.0002	6.566e-05	9.665e-05	0.0006	6.899e-05	6.449e-05	0.0005	0.0005	3.003e-05	8.975e-05	0	0.0002	3.758e-05	0	3.796e-05	0.0001	0.0006	4.601e-05	4.597e-05	3.856e-05	5.382e-05	9.653e-05	2.11e-05	1.527e-05	3.249e-05	1.915e-05	9.653e-05	0	6.55e-05	0	0	0	0	2.941e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3503.94	34	chr1	186326197	.	TTCA	T	3503.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.410e-01;DP=920;ExcessHet=0.0000;FS=6.740;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.98;ReadPosRankSum=0.619;SOR=0.369	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr1	186344065	186344065	C	T	exonic	TPR	.	nonsynonymous SNV	TPR:NM_003292:exon26:c.G3443A:p.R1148H,	.	.	434	1051	35	2	0	39	0.0182158	.	.	718442	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.959	D	0.000	D	1.000	D	2.19	M	0.9	T	-0.561	T	0.257	T	0.605	4.901	28.2	4.83	2.399	7.421	18.271	0.231	.	0.0011	0.00259585	0.0043	0.0004	0.0017	0	0	0.0025	0.0056	0.0195	0.0038292	592	154602	rs201004855	0.0027	0.0027	0.0021	0.0032	0.0180	0.0026	0.0026	0.0172	0.0169	0.0004	0.0014	0.0014	2.521e-05	7.491e-05	0.0137	0.0018	0.0029	0.0180	0.0015	0.0015	0.0014	0.0015	0.0124	0.0013	0.0013	0.0099	0.0090	0.0004	0	0.0010	0.0014	0	0	0	0.0018	0.0033	0.0124	0.001	0.78490	D	0.042	0.50226	D	1.0	0.90584	D	0.959	0.70163	D	0.000000	0.84330	D	0.050771	1	0.81001	D	2.63	0.76995	M	0.9	0.45248	T	-3.53	0.68532	D	0.787	0.78356	-0.5615	0.66346	T	0.257	0.62766	T	10	0.010094792	0.00226	T	.	.	.	0.231	0.53208	.	.	0.466547245578	0.46280	0.48931154274613103	0.48851	0.969088215217	0.73296	0.480538964272	0.36131	T	0.145386	0.48249	T	-0.323258	0.06635	T	-0.222834	0.52463	T	0.0385103701510048	0.03423	T	0.924308	0.72323	D	0.6027981	0.72841	0.51171225	0.71784	0.6027981	0.72842	0.51171225	0.71784	-7.174	0.55295	T	.	.	0.092	0.13597	B	.	.	5.411269	0.90574	31	0.9994843165883498	0.99923	0.98962	0.89228	D	AEFGBI	0.885779	0.81660	D	0.734137817197773	0.81869	7.624562	0.694813629116079	0.81982	7.656244	0.999999737747594	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.83	4.83	0.61880	7.253000	0.77742	6.012000	0.52660	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:1.0:0.0:0.0	18.271	0.90008	278	0.89047	Nucleoprotein TPR/MLP1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1896.98	34	chr1	186344065	.	C	T	1896.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.550e-01;DP=810;ExcessHet=0.0000;FS=5.673;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.90;ReadPosRankSum=0.135;SOR=0.321	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1302	20	0	1	0
chr1	186367938	186367938	T	G	exonic	TPR	.	nonsynonymous SNV	TPR:NM_003292:exon4:c.A375C:p.R125S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.991	D	0.000	D	1.000	D	1.1	L	1.53	T	-1.012	T	0.117	T	0.836	4.022	20.6	3.81	1.129	4.771	9.329	0.198	0.0453209994512	.	.	8.642e-06	0	0	0	0	1.578e-05	0	0	6.5e-06	1	154602	rs747303433	4.112e-06	4.104e-06	5.456e-06	2.755e-06	5.398e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.398e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.233	0.30926	T	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1.000	0.47320	D	2.295	0.65404	M	1.53	0.30401	T	-1.36	0.33798	N	0.633	0.77039	-1.0120	0.26291	T	0.117	0.41209	T	10	0.5735104	0.65450	D	0.045321	0.61926	D	0.198	0.48105	0.244	0.17830	0.490693190711	0.48701	0.4342097366556817	0.43337	0.466613555012	0.46060	0.670502722263	0.62910	T	0.036415	0.24096	T	0.0928061	0.63503	D	-0.040821	0.67645	D	0.844201743602753	0.49674	D	0.963204	0.91007	D	0.6733976	0.76615	0.35537648	0.61066	0.6733976	0.76616	0.35537648	0.61065	-3.334	0.14180	T	.	.	0.581	0.68094	P	.;.	.;.	4.432966	0.68763	25.3	0.99513504139471454	0.68799	0.96593	0.69919	D	AEFGBI	0.654002	0.62684	D	0.463460799787433	0.64971	4.764123	0.473582472609067	0.66245	4.927008	0.997942040630651	0.36224	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.08	3.81	0.43020	4.786000	0.62117	4.137000	0.42065	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.143:0.0:0.857	9.329	0.37172	307	0.87649	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	763.98	35	chr1	186367938	.	T	G	763.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.26;DP=763;ExcessHet=0.0000;FS=0.882;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.79;ReadPosRankSum=1.87;SOR=0.841	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1183	20	0	1	0
chr1	186393953	186393955	TCT	-	exonic	ODR4	.	nonframeshift deletion	ODR4:NM_001164246:exon8:c.622_624del:p.S209del	.	.	598	915	7	2	0	11	0.00597501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	.	0.0036	0.0009	0.0024	0	0.0055	0.0050	0.0041	0.0028	0.0002305	6	26028	rs556420947	0.0034	0.0033	0.0034	0.0034	0.0036	0.0033	0.0033	0.0035	0.0035	0.0006	0.0011	0.0002	0	0.0095	0.0021	0.0036	0.0032	0.0021	0.0032	0.0032	0.0033	0.0031	0.0050	0.0030	0.0029	0.0045	0.0043	0.0006	0	0.0010	0.0003	0	0.0091	0	0.0050	0.0038	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	774.94	25	chr1	186393952	.	ATCT	A	774.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.850e-01;DP=643;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.94;ReadPosRankSum=-1.235e+00;SOR=0.744	GT:AD:DP:GQ:PL	0/0:25,0:25:75:0,75,718	20	0	1	0
chr1	186977737	186977737	A	G	exonic	PLA2G4A	.	nonsynonymous SNV	PLA2G4A:NM_001311193:exon14:c.A1729G:p.I577V	Phospholipase A2, group IV A, deficiency of (3)	.	421	1040	59	2	0	63	0.029398	.	.	696325	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.004	B	0.036	B	0.000	N	0.969	D	-0.4	N	4.04	T	-0.943	T	0.003	T	0.119	0.670	7.587	3.68	0.516	3.247	8.149	0.035	.	0.0077	0.00658946	0.0085	0.0013	0.0057	0	0.0021	0.0110	0.0132	0.0116	0.0085704	1325	154602	rs28395831	0.0091	0.0091	0.0089	0.0093	0.0439	0.0089	0.0089	0.0394	0.0377	0.0025	0.0070	0.0295	5.04e-05	0.0018	0.0439	0.0090	0.0099	0.0127	0.0071	0.0071	0.0072	0.0069	0.0141	0.0067	0.0066	0.0114	0.0104	0.0020	0	0.0071	0.0346	0.0002	0.0014	0.0510	0.0094	0.0109	0.0141	0.892	0.02471	T	0.352	0.17372	T	0.003	0.11197	B	0.026	0.20792	B	0.000250	0.46924	N	0.250277	0.968559	0.38668	D	-0.745	0.01742	N	4.04	0.03121	T	0.39	0.03521	N	0.105	0.08925	-0.9427	0.42185	T	0.003	0.00832	T	10	0.0045812726	0.00095	T	.	.	.	0.035	0.08770	.	.	0.53586618445	0.53237	0.3995844948397593	0.39873	0.482066616854	0.47176	0.437642633915	0.30255	T	0.098935	0.40324	T	-0.626606	0.00100	T	-0.662464	0.08101	T	0.0106937320788063	0.00150	T	0.829517	0.49484	T	0.06799674	0.14775	0.047745768	0.06944	0.06799674	0.14774	0.047745768	0.06944	-3.377	0.14748	T	0.12229267029175715	0.11702	0.064	0.01622	B	.	.	1.949672	0.24767	16.52	0.86608487478827612	0.16651	0.64634	0.32471	D	AEFGBCI	0.157326	0.28282	N	-0.623964233145568	0.18226	0.944563	-0.393162390332354	0.25199	1.384411	0.999985796314232	0.51787	0.627647	0.40530	0	0.670034	0.63936	0	0.618467	0.43123	0	0.657601	0.63696	0	.	.	5.98	3.68	0.41359	3.259000	0.51217	6.863000	0.56768	0.756000	0.94297	0.996000	0.39380	1.000000	0.68203	0.979000	0.57723	0.7827:0.0:0.2173:0.0	8.149	0.30293	897	0.25382	Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	731.98	34	chr1	186977737	.	A	G	731.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.210e+00;DP=768;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.17;ReadPosRankSum=-7.410e-01;SOR=0.608	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1195	20	0	1	0
chr1	193076917	193076917	G	A	exonic	RO60	.	nonsynonymous SNV	RO60:NM_001331020:exon4:c.G128A:p.R43H	.	.	.	.	.	.	.	.	.	.	.	3309643	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.979	D	0.338	B	0.000	N	0.979	D	1.875	L	1.79	T	-1.097	T	0.058	T	0.231	2.988	15.96	2.67	0.290	2.477	10.882	0.147	0.00928326107002	8.4e-05	0.000199681	5.897e-05	0.0001	8.87e-05	0	0	6.11e-05	0	6.106e-05	5.17e-05	8	154602	rs370244149	2.331e-05	2.463e-05	2.319e-05	2.344e-05	5.988e-05	1.678e-05	1.481e-05	1.666e-05	1.427e-05	5.988e-05	0	0	0	0	0	2.432e-05	6.639e-05	1.167e-05	5.917e-05	5.908e-05	0.0001	1.346e-05	8.825e-05	3.079e-05	2.211e-05	3.764e-05	2.576e-05	7.232e-05	0	0	0	0	0	0	8.825e-05	0	0	0.07	0.36709	T	0.005	0.72224	D	0.973	0.57599	D	0.269	0.39840	B	0.000046	0.53742	N	0.160164	0.979254	0.39543	D	2.005	0.54552	M	1.79	0.25509	T	-3.82	0.71997	D	0.244	0.28732	-1.0974	0.04420	T	0.058	0.24465	T	10	0.20236707	0.36354	T	0.009283	0.24366	T	0.147	0.38986	.	.	0.380052290102	0.37618	0.392598834645488	0.39174	0.20235147082	0.22657	0.282201707363	0.07801	T	0.316095	0.68766	T	-0.287091	0.09930	T	-0.468016	0.25730	T	0.281487911939621	0.24234	T	0.845515	0.60805	T	0.12779659	0.29895	0.14076512	0.33543	0.12779659	0.29895	0.14076512	0.33542	-9.297	0.69588	D	.	.	0.156	0.34602	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.992156	0.58767	24.0	0.9969871611687775	0.80453	0.92303	0.55401	D	AEFBI	0.225944	0.34996	N	0.183095601133062	0.50387	3.229231	0.197405475348614	0.49703	3.170526	0.833644742602058	0.24738	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.645665	0.59343	0	.	.	5.81	2.67	0.30756	2.094000	0.41344	3.915000	0.40434	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.2165:0.0:0.7835:0.0	10.882	0.46152	324	0.86790	TROVE domain|TROVE domain;TROVE domain|TROVE domain;TROVE domain|TROVE domain;.;.;.;TROVE domain|TROVE domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	653.98	36	chr1	193076917	.	G	A	653.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.532;DP=765;ExcessHet=0.0000;FS=3.667;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.28;ReadPosRankSum=0.982;SOR=0.722	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1401	20	0	1	0
chr1	196673944	196673944	T	A	exonic	CFH	.	nonsynonymous SNV	CFH:NM_000186:exon3:c.T332A:p.V111E	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	.	1	1518	3	0	0	3	0.000987167	.	.	1392763	not_provided|Factor_H_deficiency|Basal_laminar_drusen|Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1|Age_related_macular_degeneration_4	MedGen:C3661900|MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038|MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	1.0	D	0.982	D	.	.	0.578	D	0.655	N	0.01	T	-0.783	T	0.212	T	0.786	2.069	12.88	4.3	2.088	1.751	8.814	0.350	0.313858652385	.	0.000399361	0.0001	0	0	0	0	0	0	0.0009	0.00011	17	154602	rs576819823	4.729e-05	4.788e-05	3.683e-05	5.784e-05	0.0007	3.801e-05	3.482e-05	0.0006	0.0005	0	0	0	0	0	0	9.012e-07	9.95e-05	0.0007	1.97e-05	1.969e-05	1.285e-05	2.686e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.014e-05	0	0	0	0	0	0	0	0	0	0.0006	0.218	0.19090	T	0.278	0.21812	T	0.959	0.55135	D	0.44	0.45726	B	.	.	.	.	0.578384	0.32353	D	.	.	.	0.01	0.62459	T	-2.4	0.59059	N	0.407	0.44761	-0.7829	0.56138	T	0.212	0.57241	T	9	0.18481752	0.33874	T	0.313859	0.91268	D	0.350	0.67142	0.654	0.79172	0.936195021678	0.93553	0.869237624239863	0.86888	0.320435136763	0.34251	0.426937609911	0.28790	T	0.028569	0.20668	T	-0.15196	0.28005	T	-0.076562	0.65155	T	0.165661890906554	0.18280	T	0.625137	0.26417	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.42563	B	.;.;.	.;.;.	4.246316	0.64416	24.7	0.97701422969332063	0.35436	0.67313	0.33388	D	AEFBI	0.771579	0.70617	D	-0.00422194402697867	0.41664	2.496153	0.0996153952888516	0.44530	2.732971	0.00167385162477552	0.08770	0.706298	0.61202	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.47	4.3	0.50540	2.435000	0.44469	4.994000	0.46548	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1663:0.0:0.0:0.8337	8.814	0.34144	545	0.72614	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	710.98	38	chr1	196673944	.	T	A	710.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.057e+00;DP=843;ExcessHet=0.0000;FS=0.918;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.16;ReadPosRankSum=0.889;SOR=0.520	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1056	20	0	1	0
chr1	196779219	196779219	G	A	exonic	CFHR3	.	nonsynonymous SNV	CFHR3:NM_001166624:exon2:c.G116A:p.R39H	.	.	232	1286	2	2	0	6	0.00232739	.	.	1686156	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.988	D	0.695	P	.	.	1.000	N	2.015	M	-0.64	T	-0.779	T	0.284	T	0.339	1.082	9.417	-3.45	-0.484	-0.542	0.342	0.248	0.0180505150821	0.0002	0.000199681	0.0002	0	8.79e-05	0.0005	0	0.0002	0.0012	0	0.0001552	24	154602	rs377742193	0.0002	0.0002	0.0002	0.0001	0.0022	0.0001	0.0001	0.0012	0.0009	0	0.0001	0	0.0002	0	0.0022	0.0001	0.0005	0.0001	0.0001	0.0001	0.0001	0.0001	0.0003	9.054e-05	7.46e-05	0.0002	0.0001	0	0	0	0	0.0002	0	0	0.0002	0.0005	0.0003	0.12	0.32769	T	0.485	0.32249	T	0.966	0.62325	D	0.637	0.53983	P	.	.	.	.	1	0.08975	N	2.32	0.66415	M	-0.64	0.72125	T	0.23	0.04861	N	0.049	0.17691	-0.7795	0.56331	T	0.284	0.65577	T	9	0.08579424	0.14519	T	0.018051	0.39980	T	0.248	0.55615	.	.	0.728988515233	0.72658	0.4926468735221098	0.49185	0.191058906287	0.21425	0.38585665822	0.23083	T	0.050428	0.28592	T	-0.285711	0.10071	T	-0.347856	0.39450	T	0.0273205277056228	0.01590	T	0.728327	0.34315	T	0.015815971	0.00159	0.016959947	0.00023	0.0080455	0.00000	0.020369785	0.00132	-8.984	0.68191	D	.	.	0.138	0.34580	B	.;.;.;.	.;.;.;.	0.590613	0.09593	6.365	0.98464046904748426	0.41780	0.00057	0.00426	N	AEFDHI	0.116612	0.22879	N	-0.769248923838574	0.14116	0.7005925	-1.03189496735515	0.09087	0.4502267	3.46813612838478E-4	0.06626	0.743674	0.98306	0	0.615948	0.52940	0	0.573888	0.23631	0	0.584449	0.35598	0	.	.	2.86	-3.45	0.04479	-0.228000	0.09119	-1.261000	0.05879	-0.345000	0.05644	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3346:0.1998:0.2696:0.1959	0.342	0.00312	535	0.73288	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	1599.71	33	chr1	196779219	.	G	A	1599.71	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.45;DP=746;ExcessHet=0.0000;FS=2.247;InbreedingCoeff=-0.0270;MLEAC=1;MLEAF=0.026;MQ=60.00;MQRankSum=0.00;QD=12.60;ReadPosRankSum=-4.400e-01;SOR=0.853	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1121	18	0	1	2
chr1	196994163	196994163	A	C	exonic	CFHR5	.	nonsynonymous SNV	CFHR5:NM_030787:exon4:c.A514C:p.K172Q,	Nephropathy due to CFHR5 deficiency, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.544	P	0.461	P	.	.	1.000	N	1.045	L	-0.16	T	-0.924	T	0.156	T	0.091	1.229	9.983	-2.35	-0.335	-0.234	6.32	0.148	0.0294204703868	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1372940881	2.737e-06	2.736e-06	5.447e-06	0	0.0005	6.4e-07	4.3e-07	0.0001	7.557e-05	0	0	0	0	0	0.0005	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.23095	T	0.176	0.29843	T	0.544	0.37968	P	0.461	0.46460	P	.	.	.	.	1	0.08975	N	1.225	0.30651	L	-0.16	0.65378	T	-2.17	0.49018	N	0.156	0.16168	-0.9240	0.44999	T	0.156	0.48738	T	9	0.22522396	0.39347	T	0.02942	0.51930	D	0.148	0.39182	0.619	0.75347	0.575246599268	0.57192	0.3101897282239527	0.30931	0.0171167164253	0.01654	0.339355170727	0.16342	T	0.007847	0.07229	T	-0.227788	0.16943	T	-0.564978	0.15912	T	0.130843167558003	0.15460	T	0.622538	0.23960	T	0.08998769	0.21043	0.08713962	0.20234	0.08998769	0.21043	0.08713962	0.20234	-7.619	0.58443	D	0.20663825124974744	0.27599	0.117	0.23605	B	.	.	0.905543	0.12797	9.313	0.93912788512203904	0.23949	0.02529	0.07038	N	AEFIJ	0.072821	0.14545	N	-0.794305285712096	0.13458	0.6630912	-0.902107573547979	0.12044	0.6172991	2.2055023166973E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.98	-2.35	0.06302	-0.048000	0.11898	0.025000	0.13648	0.573000	0.29008	0.181000	0.24076	0.116000	0.22850	0.070000	0.16646	0.3023:0.5373:0.0:0.1604	6.32	0.20419	256	0.89942	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	796.98	34	chr1	196994163	.	A	C	796.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.794e+00;DP=769;ExcessHet=0.0000;FS=1.848;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.96;ReadPosRankSum=0.876;SOR=0.452	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1123	20	0	1	0
chr1	197090048	197090048	T	C	exonic	ASPM	.	nonsynonymous SNV	ASPM:NM_001206846:exon24:c.A5111G:p.N1704S	Microcephaly 5, primary, autosomal recessive, Autosomal recessive	.	4	1516	2	0	0	2	0.000659196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.841	P	0.277	B	0.001	D	0.958	N	1.7	L	0.87	T	-0.977	T	0.094	T	0.126	3.021	16.08	5.75	2.185	2.805	11.136	0.089	0.00788995612606	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1051596842	2.737e-06	2.736e-06	1.362e-06	4.126e-06	0.0003	6.4e-07	4.3e-07	6.098e-05	2.523e-05	0	0	0	0	0	0.0003	1.799e-06	0	0	6.58e-06	6.567e-06	1.286e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.064	0.36509	T	0.177	0.41913	T	0.841	0.46518	P	0.277	0.40197	B	0.000769	0.41888	D	0.238929	0.958155	0.26235	N	2.045	0.56016	M	0.87	0.46412	T	-2.36	0.52128	N	0.407	0.49328	-0.9771	0.35660	T	0.094	0.35711	T	10	0.15876436	0.29846	T	0.00789	0.20929	T	0.089	0.25827	0.313	0.28774	0.192905019026	0.18896	0.2459216461740362	0.24506	.	.	0.394020527601	0.24235	T	0.125172	0.45070	T	-0.196205	0.21352	T	-0.519612	0.20333	T	0.833598792552948	0.48813	D	0.90351	0.72857	D	0.06406246	0.13553	0.10594706	0.25478	0.06406246	0.13553	0.10594706	0.25477	-6.452	0.49914	T	.	.	0.165	0.36375	B	.;.;.	.;.;.	2.226417	0.28416	17.79	0.99713421873104935	0.81493	0.82370	0.41608	D	AEFGBI	0.215217	0.34060	N	0.158896393288516	0.49233	3.126073	0.282731208260886	0.54532	3.617817	0.901525006063128	0.26104	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.75	5.75	0.90390	2.826000	0.47805	1.923000	0.29722	0.665000	0.62972	0.998000	0.41325	1.000000	0.68203	0.999000	0.91618	0.0:0.0716:0.0:0.9284	11.136	0.47600	185	0.92771	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2434.98	33	chr1	197090048	.	T	C	2434.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.76;DP=861;ExcessHet=0.0000;FS=0.598;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=-7.840e-01;SOR=0.619	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1109	20	0	1	0
chr1	197093194	197093194	C	T	exonic	ASPM	.	nonsynonymous SNV	ASPM:NM_001206846:exon20:c.G4397A:p.R1466Q	Microcephaly 5, primary, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1200673	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.15	T	0.772	P	0.153	B	0.504	N	1.000	N	-0.645	N	-0.57	T	-0.230	T	0.467	T	0.266	1.847	12.14	-6.96	-1.649	-0.038	8.541	0.208	0.0619816249752	.	.	4.143e-05	0	0	0.0002	0.0002	3.005e-05	0	0	5.17e-05	8	154602	rs368000478	6.435e-05	6.43e-05	6.267e-05	6.606e-05	0.0001	5.365e-05	4.98e-05	5.252e-05	4.826e-05	0	4.476e-05	0	0.0001	1.875e-05	0	6.48e-05	0.0001	5.798e-05	3.956e-05	3.943e-05	6.441e-05	1.351e-05	0.0002	1.72e-05	1.133e-05	1.976e-05	1.127e-05	0	0	6.588e-05	0	0.0002	0	0	5.898e-05	0	0	0.292	0.14894	T	0.69	0.12920	T	0.772	0.43974	P	0.153	0.34292	B	0.504231	0.11915	N	0.746374	0.999997	0.08975	N	-0.49	0.02651	N	-0.57	0.95422	T	0.07	0.06138	N	0.117	0.16308	-0.2298	0.76892	T	0.467	0.79416	T	10	0.06130916	0.07666	T	0.061982	0.68507	D	0.208	0.49714	.	.	0.428401797576	0.42457	0.01546440348712338	0.01502	.	.	0.204205513	0.00589	T	0.015279	0.12850	T	-0.117849	0.33475	T	-0.181356	0.56397	T	0.0238315266102432	0.01124	T	0.840716	0.51609	T	0.02084657	0.00658	0.028415883	0.01075	0.02084657	0.00658	0.028415883	0.01075	-3.531	0.29147	T	.	.	0.077	0.06250	B	.;.;.	.;.;.	0.782438	0.11529	8.124	0.91522039557211188	0.20798	0.04294	0.09839	N	AEFBI	0.031079	0.03251	N	-1.25139214046609	0.04281	0.1929216	-1.25213405384217	0.05099	0.2421848	0.945090471914692	0.27645	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.18	-6.96	0.01465	0.257000	0.18137	-3.314000	0.02883	-0.242000	0.07441	0.991000	0.37257	0.000000	0.08366	0.969000	0.54022	0.0866:0.1021:0.0:0.8113	8.541	0.32556	182	0.92924	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site;.;IQ motif, EF-hand binding site|IQ motif, EF-hand binding site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	2487.98	34	chr1	197093194	.	C	T	2487.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=897;ExcessHet=0.0000;FS=3.115;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.02;ReadPosRankSum=-4.040e-01;SOR=0.773	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1119	20	0	1	0
chr1	197101048	197101048	A	C	exonic	ASPM	.	nonsynonymous SNV	ASPM:NM_018136:exon18:c.T8203G:p.F2735V,	Microcephaly 5, primary, autosomal recessive, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	167737	ASPM-related_disorder|Microcephaly_5,_primary,_autosomal_recessive|not_provided	.|MONDO:MONDO:0012106,MedGen:C1837501,OMIM:608716,Orphanet:2512|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.1	T	0.977	D	0.87	P	0.041	N	0.999	N	2.84	M	-0.55	T	-0.505	T	0.462	T	0.442	2.559	14.52	2.77	0.478	2.084	6.107	0.303	.	7.7e-05	0.00559105	0.0020	0	0.0002	0	0	0	0	0.0145	0.0018046	279	154602	rs372416792	0.0008	0.0008	0.0005	0.0012	0.0130	0.0008	0.0008	0.0124	0.0121	3.006e-05	6.756e-05	0	0	0	0.0003	2.7e-06	0.0012	0.0130	0.0005	0.0005	0.0003	0.0006	0.0145	0.0004	0.0004	0.0118	0.0108	4.817e-05	0	0	0	0	0	0	0	0	0.0145	0.006	0.61437	D	0.038	0.51421	D	0.973	0.57599	D	0.87	0.61806	P	0.041163	0.23978	N	0.400687	1	0.21619	N	2.895	0.83812	M	-0.55	0.71068	T	-3.22	0.64939	D	0.188	0.20528	-0.5051	0.68464	T	0.462	0.79168	T	10	0.009033561	0.00204	T	.	.	.	0.303	0.62400	.	.	0.673305021989	0.67053	0.0198826608712278	0.01941	.	.	0.294791817665	0.09627	T	0.355614	0.72259	T	-0.313263	0.07464	T	-0.211081	0.53591	T	0.0904703142660573	0.11274	T	0.780422	0.41514	T	0.19454367	0.41208	0.18985574	0.42355	0.19454367	0.41207	0.18985574	0.42354	-10.368	0.76085	D	.	.	0.138	0.30184	B	.	.	1.539156	0.19741	14.41	0.92047509279450745	0.21390	0.31518	0.24357	N	AEFBI	0.172406	0.29944	N	-0.123788452503402	0.36359	2.100528	-0.382745817838522	0.25511	1.403407	0.973618306099741	0.29471	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	3.95	2.77	0.31614	2.308000	0.43350	-0.683000	0.07876	0.756000	0.94297	0.005000	0.17040	0.000000	0.08366	0.384000	0.26424	0.6683:0.1693:0.0:0.1624	6.107	0.19303	179	0.93046	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	2044.98	34	chr1	197101048	.	A	C	2044.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.327e+00;DP=849;ExcessHet=0.0000;FS=11.422;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=1.56;SOR=0.943	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1088	20	0	1	0
chr1	197102733	197102733	A	T	exonic	ASPM	.	nonsynonymous SNV	ASPM:NM_018136:exon18:c.T6518A:p.L2173H,	Microcephaly 5, primary, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.97	M	-1.26	T	0.542	D	0.681	D	0.642	3.564	18.17	5.48	2.090	9.215	15.566	0.694	0.285079611783	.	.	8.273e-06	0	0	0	0	1.503e-05	0	0	6.5e-06	1	154602	rs770555029	4.108e-06	4.104e-06	4.087e-06	4.128e-06	2.243e-05	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	2.243e-05	0	0	0	0	4.499e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000010	0.62929	D	0.000000	0.999992	0.81001	D	3.36	0.91202	M	-1.26	0.79176	T	-4.48	0.77965	D	0.678	0.68516	0.542	0.91121	D	0.681	0.88955	D	10	0.84051996	0.83207	D	0.28508	0.90368	D	0.694	0.88913	0.554	0.67133	0.995094538843	0.99504	0.2743158391711732	0.27344	.	.	0.487475693226	0.37089	T	0.575266	0.86003	D	0.216541	0.75448	D	0.0732697	0.75128	D	0.992977440357208	0.83607	D	0.762324	0.38756	T	0.6403575	0.74850	0.6950149	0.82045	0.6403575	0.74851	0.6950149	0.82046	-12.104	0.85354	D	0.6577698216030817	0.73080	0.425	0.60957	A	.	.	4.339971	0.66570	25.0	0.98073797959573961	0.38046	0.98771	0.86641	D	AEFBCI	0.809392	0.73292	D	0.807844251345179	0.86594	8.935812	0.718744506269574	0.83802	8.118441	0.999999999912984	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	5.48	5.48	0.80675	9.253000	0.94694	9.282000	0.79722	0.741000	0.86335	0.996000	0.39380	1.000000	0.68203	0.777000	0.36790	1.0:0.0:0.0:0.0	15.566	0.76031	177	0.93145	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1686.98	117	chr1	197102733	.	A	T	1686.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.917e+00;DP=1822;ExcessHet=0.0000;FS=4.875;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.95;ReadPosRankSum=-3.230e-01;SOR=0.413	GT:AD:DP:GQ:PL	0/1:87,67:154:99:1701,0,2393	20	0	1	0
chr1	197104066	197104066	G	A	exonic	ASPM	.	nonsynonymous SNV	ASPM:NM_018136:exon18:c.C5185T:p.R1729W,	Microcephaly 5, primary, autosomal recessive, Autosomal recessive	.	4	1426	86	6	0	98	0.0332203	.	.	101785	not_provided|not_specified|Microcephaly_5,_primary,_autosomal_recessive|ASPM-related_disorder	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012106,MedGen:C1837501,OMIM:608716,Orphanet:2512|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.999	D	0.978	D	0.039	N	1.000	D	3.065	M	1.53	T	-0.574	T	0.193	T	0.273	3.364	17.34	5.98	2.843	2.434	16.062	0.279	.	0.0094	0.00539137	0.0096	0.0018	0.0087	0.0006	0.0018	0.0124	0.0177	0.0113	0.0092366	1428	154602	rs41299623	0.0098	0.0098	0.0095	0.0101	0.0224	0.0097	0.0096	0.0192	0.0181	0.0013	0.0109	0.0190	0.0005	0.0027	0.0224	0.0102	0.0102	0.0125	0.0083	0.0083	0.0084	0.0082	0.0148	0.0079	0.0077	0.0132	0.0126	0.0016	0.0022	0.0148	0.0165	0.0002	0.0024	0.0204	0.0117	0.0171	0.0091	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.978	0.74104	D	0.039326	0.24182	N	0.428411	1	0.81001	D	3.72	0.94773	H	1.53	0.30401	T	-3.96	0.73579	D	0.393	0.43417	-0.5736	0.65871	T	0.193	0.54652	T	10	0.004125327	0.00081	T	.	.	.	0.279	0.59619	.	.	0.3349148499	0.33108	0.08892445824681566	0.08825	.	.	0.236045047641	0.02445	T	0.339384	0.70854	T	-0.425924	0.01569	T	-0.37291	0.36548	T	0.0830932680580513	0.10378	T	0.905509	0.66687	D	0.4028834	0.60932	0.50360066	0.71306	0.4028834	0.60932	0.50360066	0.71306	-8.839	0.66655	D	0.566896680356971	0.63430	0.140	0.30608	B	.	.	4.136525	0.61946	24.4	0.99919287988164351	0.98654	0.85522	0.44663	D	AEFBCI	0.422085	0.48823	N	0.632367860663397	0.75231	6.269803	0.526582881682223	0.69785	5.410109	0.991712705357451	0.32584	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.98	5.98	0.97147	2.847000	0.47970	1.577000	0.27452	0.618000	0.50648	0.647000	0.28146	0.003000	0.18671	0.988000	0.63387	0.0:0.0:0.858:0.142	16.062	0.80647	177	0.93145	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site|IQ motif, EF-hand binding site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2939.98	100	chr1	197104066	.	G	A	2939.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=1633;ExcessHet=0.0000;FS=6.967;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.70;ReadPosRankSum=-8.400e-01;SOR=1.146	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	20	0	1	0
chr1	197143319	197143319	G	C	exonic	ASPM	.	nonsynonymous SNV	ASPM:NM_001206846:exon3:c.C933G:p.S311R	Microcephaly 5, primary, autosomal recessive, Autosomal recessive	.	0	1501	21	0	0	21	0.00694674	.	.	206754	Microcephaly_5,_primary,_autosomal_recessive|not_provided|not_specified|Inborn_genetic_diseases	MONDO:MONDO:0012106,MedGen:C1837501,OMIM:608716,Orphanet:2512|MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	0.196	B	0.055	B	0.392	N	1.000	N	1.895	L	1.52	T	-0.919	T	0.154	T	0.341	1.433	10.73	1.65	0.638	0.701	5.120	0.029	0.0171683685263	.	0.000599042	0.0008	0	0	0	0	0.0003	0.0022	0.0042	0.0006145	95	154602	rs563858170	0.0004	0.0004	0.0003	0.0006	0.0051	0.0004	0.0004	0.0047	0.0046	0	2.236e-05	0	0	0	0.0029	0.0001	0.0008	0.0051	0.0002	0.0002	0.0001	0.0004	0.0044	0.0002	0.0002	0.0029	0.0025	2.406e-05	0	6.538e-05	0	0	0	0	0.0002	0	0.0044	0.005	0.63226	D	0.014	0.63109	D	0.196	0.29532	B	0.036	0.22909	B	0.391828	0.13244	N	0.731127	1	0.08975	N	1.83	0.48079	L	0.3	0.58755	T	-1.29	0.32791	N	0.222	0.26475	-0.9186	0.45743	T	0.154	0.48360	T	10	0.0045710206	0.00095	T	0.017168	0.38759	T	0.029	0.06676	0.191	0.10171	0.43656330218	0.43278	0.3086480884578543	0.30777	.	.	0.340711534023	0.16545	T	0.060068	0.31287	T	-0.408179	0.02044	T	-0.358831	0.38188	T	0.0191107464688734	0.00619	T	0.885811	0.61875	D	0.101184465	0.23898	0.1190928	0.28747	0.0968517	0.22820	0.08680904	0.20136	-5.32	0.40140	T	0.5299856242699648	0.60099	0.290	0.59114	B	.;.	.;.	1.870761	0.23763	16.14	0.98964838799415278	0.49403	0.62908	0.31925	D	AEFDGBIJ	0.115250	0.22668	N	-0.339159947051418	0.27672	1.520157	-0.310895020964569	0.27745	1.541806	0.999985674901629	0.51787	0.608746	0.35421	0	0.627608	0.54475	0	0.486962	0.07600	0	0.677038	0.66255	0	.	.	5.49	1.65	0.23015	0.630000	0.24244	3.447000	0.38420	0.665000	0.62972	0.902000	0.31475	1.000000	0.68203	0.808000	0.38083	0.2309:0.0:0.6095:0.1596	5.120	0.14189	214	0.91692	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	2153.98	34	chr1	197143319	.	G	C	2153.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.222;DP=868;ExcessHet=0.0000;FS=1.230;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.38;ReadPosRankSum=0.145;SOR=0.774	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1266	20	0	1	0
chr1	197356836	197356836	A	T	exonic	CRB1	.	nonsynonymous SNV	CRB1:NM_001193640:exon3:c.A658T:p.T220S	Leber congenital amaurosis 8;Pigmented paravenous chorioretinal atrophy, Autosomal dominant;Retinitis pigmentosa-12, autosomal recessive, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.626	P	0.314	B	.	.	1.000	D	1.94	M	-2.36	D	-0.103	T	0.645	D	0.247	1.547	11.13	2.79	0.347	2.065	5.375	0.328	0.174756425666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292	0.24277	T	0.296	0.33000	T	0.416	0.35222	B	0.199	0.38015	B	.	.	.	.	0.959338	0.46032	D	0.81	0.20779	L	-3.01	0.92208	D	-1.61	0.38734	N	0.246	0.40264	-0.1026	0.80039	T	0.645	0.87614	D	9	0.29548082	0.47117	T	0.174756	0.85105	D	0.328	0.65026	0.534	0.64293	0.856021758553	0.85463	0.3310163935076403	0.33014	0.0524407087411	0.05777	0.395722597837	0.24473	T	0.392266	0.88903	T	0.00803412	0.52756	T	-0.226236	0.52134	T	0.226926073431969	0.21804	T	0.281772	0.33695	T	0.08560376	0.19863	0.1282542	0.30859	0.08560376	0.19862	0.1282542	0.30859	-4.082	0.29773	T	.	.	0.103	0.18705	B	.;.;.;.;.	.;.;.;.;.	1.988201	0.25258	16.70	0.95204046005411525	0.26403	0.79553	0.39443	D	AEFDGCI	0.296535	0.40635	N	-0.398520786288524	0.25521	1.386037	-0.373603993052003	0.25786	1.420257	0.211119225433095	0.18240	0.514905	0.20481	0	0.573078	0.20572	0	0.603688	0.36954	0	0.633917	0.49826	0	.	.	5.18	2.79	0.31792	1.796000	0.38428	1.368000	0.25934	-0.065000	0.16512	0.993000	0.37899	0.287000	0.24143	0.678000	0.33484	0.7605:0.0:0.085:0.1545	5.375	0.15464	397	0.82902	.;EGF-like domain|EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;EGF-like domain|EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	954.98	37	chr1	197356836	.	A	T	954.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=763;ExcessHet=0.0000;FS=2.243;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.69;ReadPosRankSum=-2.100e-01;SOR=0.446	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1473	20	0	1	0
chr1	197442279	197442279	G	A	exonic	CRB1	.	nonsynonymous SNV	CRB1:NM_001193640:exon9:c.G3656A:p.R1219H	Leber congenital amaurosis 8;Pigmented paravenous chorioretinal atrophy, Autosomal dominant;Retinitis pigmentosa-12, autosomal recessive, Autosomal recessive	YES	0	1490	32	0	0	32	0.0106242	.	.	105795	not_provided|Leber_congenital_amaurosis_8|Retinitis_pigmentosa_12|Leber_congenital_amaurosis|Pigmented_paravenous_retinochoroidal_atrophy|Retinitis_pigmentosa|CRB1-related_disorder|not_specified|Leber_congenital_amaurosis_1	MedGen:C3661900|MONDO:MONDO:0013453,MedGen:C3151202,OMIM:613835,Orphanet:65|MONDO:MONDO:0010818,MedGen:C1838647,OMIM:600105,Orphanet:791|MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65|MONDO:MONDO:0008246,MedGen:C1868310,OMIM:172870,Orphanet:251295|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|.|MedGen:CN169374|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.83	T	0.194	B	0.061	B	.	.	1.000	D	0.4	N	-2.89	D	0.112	D	0.765	D	0.701	2.077	12.90	0.617	0.064	0.823	8.925	0.598	0.171466875088	0.0007	0.000998403	0.0015	0.0006	0.0006	0	0	0.0009	0.0033	0.0065	0.0013907	215	154602	rs62636285	0.0012	0.0012	0.0010	0.0015	0.0076	0.0012	0.0012	0.0071	0.0069	0.0003	0.0009	0.0009	0	0	0.0021	0.0009	0.0013	0.0076	0.0010	0.0010	0.0009	0.0012	0.0081	0.0009	0.0008	0.0061	0.0054	0.0005	0	0.0016	0.0006	0	0	0.0068	0.0010	0.0005	0.0081	0.957	0.22746	T	0.426	0.13872	T	0.016	0.29493	B	0.019	0.26820	B	.	.	.	.	0.998526	0.81001	D	0.53	0.13656	N	-2.89	0.98390	D	-1.45	0.49018	N	0.599	0.74826	0.112	0.84395	D	0.765	0.92009	D	9	0.009081215	0.00205	T	0.171467	0.84873	D	0.598	0.84074	.	.	0.855330142361	0.85393	0.7489288269697888	0.74838	0.0380857293076	0.04044	0.205337181687	0.00629	T	0.29748	0.76546	T	-0.0870302	0.38565	T	0.106076	0.77311	D	0.011563885380048	0.00175	T	0.70223	0.44094	T	0.073039584	0.16292	0.073683605	0.16037	0.07025654	0.15459	0.06356827	0.12612	-5.623	0.48053	T	0.17755216793042805	0.22712	0.102	0.26947	B	.;.;.;.;.;.	.;.;.;.;.;.	2.474297	0.31895	18.88	0.87126434447967349	0.17006	0.65335	0.32703	D	ALL	0.204523	0.33095	N	-0.850175086300533	0.12046	0.5848034	-0.710788130205812	0.16693	0.8842335	0.999999999999696	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.607795	0.38427	0	0.564101	0.26826	0	.	.	5.6	0.617	0.16794	1.156000	0.31323	1.545000	0.27254	-0.161000	0.11593	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.426:0.0:0.574:0.0	8.925	0.34794	355	0.85216	.;EGF-like domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;EGF-like domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;EGF-like domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1617.98	34	chr1	197442279	.	G	A	1617.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.395;DP=825;ExcessHet=0.0000;FS=0.623;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=0.063;SOR=0.807	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1344	20	0	1	0
chr1	197902785	197902785	G	C	exonic	C1orf53	.	nonsynonymous SNV	C1orf53:NM_001024594:exon1:c.G136C:p.E46Q,	.	.	333	1181	8	0	0	8	0.00337553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.014	B	0.009	B	0.335	N	1.000	N	1.39	L	.	.	-1.004	T	0.102	T	0.078	2.936	15.78	1.04	0.130	-0.276	8.952	0.009	.	0.0034	0.00259585	0.0054	0.0016	0.0021	0	0.0029	0.0068	0.0098	0.0081	0.0033505	518	154602	rs202128014	0.0041	0.0041	0.0042	0.0041	0.0061	0.0041	0.0040	0.0057	0.0055	0.0010	0.0016	0.0018	2.686e-05	0.0016	0.0046	0.0045	0.0038	0.0061	0.0037	0.0037	0.0036	0.0039	0.0060	0.0035	0.0034	0.0054	0.0052	0.0009	0.0121	0.0039	0.0023	0	0.0016	0	0.0058	0.0043	0.0060	0.034	0.44029	D	0.428	0.13792	T	0.014	0.16867	B	0.009	0.14300	B	0.335090	0.04154	N	1.562160	1	0.08975	N	1.7	0.43825	L	.	.	.	-0.3	0.11913	N	0.081	0.05670	-1.0042	0.28696	T	0.102	0.37743	T	9	0.0037774146	0.00070	T	.	.	.	0.009	0.00846	.	.	0.16115917748	0.15686	0.23059572420947583	0.22974	0.192941141249	0.21626	.	.	.	0.010059	0.09113	T	-0.450688	0.01119	T	-0.416013	0.31534	T	0.0121039965075849	0.00193	T	0.414459	0.10821	T	0.08111804	0.18623	0.063350014	0.12534	0.08111804	0.18623	0.063350014	0.12534	-3.582	0.17596	T	.	.	0.079	0.07412	B	.	.	0.767989	0.11380	7.993	0.98854251347137767	0.47356	0.03528	0.08716	N	ALL	0.037977	0.05306	N	-0.680630309694579	0.16574	0.8456469	-0.851864410727462	0.13242	0.68591	0.999999999996433	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.289072	0.05449	1	0.249971	0.05119	0	.	.	3.12	1.04	0.19220	0.275000	0.18461	-0.245000	0.10556	0.502000	0.22824	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.485:0.515:0.0	8.952	0.34955	472	0.77968	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1151.98	38	chr1	197902785	.	G	C	1151.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.990e-01;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=-1.591e+00;SOR=0.732	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1309	20	0	1	0
chr1	198253085	198253085	C	G	exonic	NEK7	.	nonsynonymous SNV	NEK7:NM_133494:exon3:c.C103G:p.R35G,	.	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.095	B	0.175	B	0.003	N	0.996	D	2.1	M	3.06	T	-0.560	T	0.233	T	0.712	3.245	16.88	4.41	2.775	4.443	14.597	0.131	.	0.0068	0.00399361	0.0066	0.0022	0.0024	0	0.0195	0.0088	0.0089	0.0016	0.0064747	1001	154602	rs55833332	0.0081	0.0082	0.0083	0.0080	0.0090	0.0080	0.0079	0.0089	0.0088	0.0010	0.0028	0.0042	0	0.0181	0.0010	0.0090	0.0076	0.0018	0.0070	0.0070	0.0073	0.0066	0.0104	0.0066	0.0065	0.0097	0.0095	0.0016	0	0.0062	0.0035	0.0002	0.0145	0	0.0104	0.0085	0.0017	0.067	0.49613	T	0.16	0.42794	T	0.095	0.25437	B	0.175	0.35598	B	0.002656	0.36173	N	0.256241	0.996019	0.42972	D	1.47	0.36993	L	-0.23	0.66652	T	-2.33	0.59059	N	0.677	0.68429	-0.5599	0.66407	T	0.233	0.59879	T	10	0.010851383	0.00240	T	.	.	.	0.131	0.35738	.	.	0.901857119871	0.90088	0.4970526681200249	0.49626	0.906264560816	0.70858	0.482114434242	0.36349	T	0.344899	0.71335	T	-0.219543	0.18055	T	-0.0777469	0.65069	T	0.0279889426191284	0.01687	T	0.978402	0.92384	D	0.6073363	0.73085	0.44948563	0.67956	0.6073363	0.73086	0.44948563	0.67957	-13.412	0.90989	D	.	.	0.465	0.63547	A	.;.;.;.;.	.;.;.;.;.	4.464820	0.69523	25.4	0.99681776223222318	0.79307	0.94923	0.62800	D	AEFBI	0.828871	0.74789	D	0.223764555029638	0.52354	3.409977	0.344285072708671	0.58164	3.985423	0.999999751571901	0.74766	0.706298	0.61202	0	0.658105	0.61773	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.34	4.41	0.52588	4.646000	0.61108	5.933000	0.51351	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9286:0.0:0.0714	14.597	0.68013	530	0.73653	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.;Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	764.98	34	chr1	198253085	.	C	G	764.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=757;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.97;ReadPosRankSum=1.46;SOR=0.752	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1135	20	0	1	0
chr1	198523513	198523513	C	G	exonic	ATP6V1G3	.	nonsynonymous SNV	ATP6V1G3:NM_001376861:exon3:c.G235C:p.G79R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.004	B	0.007	B	0.022	N	0.915	N	1.5	L	1.02	T	-1.030	T	0.085	T	0.216	-0.132	3.353	3.29	0.760	1.051	10.567	0.035	0.00757147066108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.407	0.10245	T	0.495	0.11371	T	0.004	0.12183	B	0.007	0.12992	B	0.021958	0.26730	N	0.422334	1	0.27413	N	2.22	0.62911	M	1.02	0.40749	T	-0.08	0.08495	N	0.105	0.19995	-1.0297	0.20551	T	0.085	0.33128	T	10	0.062035233	0.07870	T	0.007571	0.20086	T	0.035	0.08770	0.379	0.39482	0.110078149338	0.10416	0.19643846345772	0.19560	0.100601861765	0.11367	0.259710431099	0.04857	T	0.007259	0.06675	T	-0.214114	0.18804	T	-0.545336	0.17775	T	0.1603152602911	0.17895	T	.	.	.	0.13682322	0.31704	0.13925584	0.33233	0.13682322	0.31704	0.13925584	0.33232	-2.749	0.07724	T	.	.	0.070	0.03773	B	.;.;.	.;.;.	0.988624	0.13663	10.20	0.4648581947923861	0.03727	0.18381	0.20237	N	AEFDGBCI	0.079982	0.16163	N	-0.778272750344026	0.13878	0.6869211	-0.785340511752668	0.14854	0.7783192	0.999998036275625	0.74766	0.541725	0.22260	1	0.459889	0.06624	1	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.14	3.29	0.36801	0.892000	0.27957	-0.078000	0.12213	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.878000	0.41950	0.0:0.8457:0.0:0.1543	10.567	0.44365	766	0.49742	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	409.98	37	chr1	198523513	.	C	G	409.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.228e+00;DP=819;ExcessHet=0.0000;FS=5.299;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.53;ReadPosRankSum=-1.590e-01;SOR=0.204	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,108,1335	20	0	1	0
chr1	200048386	200048386	C	G	exonic	NR5A2	.	nonsynonymous SNV	NR5A2:NM_001276464:exon4:c.C462G:p.N154K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	B	0.012	B	0.000	D	1.000	D	1.15	L	-3.26	D	-0.735	T	0.280	T	0.104	1.802	11.98	5.63	2.802	7.394	20.047	0.119	0.0756658382696	.	0.000599042	0.0002	0	0	0	0	0	0	0.0012	0.0001488	23	154602	rs545151830	6.977e-05	6.977e-05	3.811e-05	0.0001	0.0011	5.846e-05	5.457e-05	0.0009	0.0009	0	0	0	0	0	0	0	9.934e-05	0.0011	3.283e-05	3.281e-05	0	6.714e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.415	0.09989	T	0.97	0.02670	T	0.004	0.12183	B	0.012	0.16012	B	0.000004	0.62929	D	0.166245	0.999998	0.81001	D	1.385	0.34509	L	-3.26	0.93835	D	-0.64	0.21429	N	0.433	0.48872	-0.7353	0.58694	T	0.280	0.65199	T	9	0.045691073	0.03670	T	0.075666	0.72343	D	0.379	0.69696	0.415	0.45380	0.516550057871	0.51297	0.4154678131952565	0.41462	0.504936371297	0.48756	0.521727919579	0.41869	T	0.285074	0.65786	T	-0.266645	0.12135	T	-0.206235	0.54054	T	0.248596148318174	0.22810	T	0.929907	0.75759	D	0.20077105	0.42065	0.29530716	0.55562	0.20077105	0.42065	0.29530716	0.55561	-5.991	0.46514	T	.	.	0.425	0.60915	A	.;.;.	.;.;.	3.510174	0.49149	22.7	0.95601024372697851	0.27339	0.52784	0.29214	D	ALL	0.973116	0.99472	D	0.427758306943434	0.62953	4.520097	0.539234418560255	0.70653	5.536774	1.0	0.98316	0.446893	0.09132	0	0.563428	0.19063	0	0.47417	0.07244	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	7.517000	0.80687	7.568000	0.60641	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	20.047	0.97612	826	0.39940	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3379.98	34	chr1	200048386	.	C	G	3379.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.832;DP=1095;ExcessHet=0.0000;FS=2.037;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=0.140;SOR=0.822	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1417	20	0	1	0
chr1	200048508	200048508	G	A	exonic	NR5A2	.	nonsynonymous SNV	NR5A2:NM_001276464:exon4:c.G584A:p.R195Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.882	P	0.18	B	0.000	D	1.000	D	2.265	M	-3.34	D	0.574	D	0.740	D	0.723	4.959	28.9	5.09	2.523	9.354	18.845	0.568	0.218551347235	.	.	4.119e-05	0	0	0	0	7.494e-05	0	0	3.88e-05	6	154602	rs201214610	6.635e-05	6.635e-05	5.581e-05	7.7e-05	0.0004	5.562e-05	5.152e-05	0.0002	0.0002	2.987e-05	6.708e-05	0.0011	0.0004	0	0	3.687e-05	0.0001	0	7.887e-05	7.881e-05	0.0001	5.381e-05	6.545e-05	4.498e-05	3.513e-05	1.972e-05	1.124e-05	4.829e-05	0	6.545e-05	0.0012	0	0	0	5.88e-05	0.0005	0	0.055	0.39097	T	0.404	0.15157	T	0.403	0.34918	B	0.026	0.20792	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.265	0.64440	M	-3.34	0.94161	D	-1.74	0.41239	N	0.761	0.75927	0.574	0.91551	D	0.740	0.91112	D	9	0.61681664	0.67752	D	0.218551	0.87664	D	0.568	0.82403	0.273	0.22369	0.867767558876	0.86648	0.5882618098394757	0.58756	0.508603170657	0.49010	0.670203089714	0.62867	T	0.428809	0.77782	T	0.170775	0.71194	D	0.204501	0.83373	D	0.654552638530731	0.38658	D	0.920908	0.71352	D	0.36891007	0.58504	0.44282055	0.67520	0.36891007	0.58504	0.44282055	0.67520	-2.724	0.10409	T	.	.	0.278	0.51103	B	.;.;.	.;.;.	4.663493	0.74467	26.2	0.99956793860377968	0.99981	0.61418	0.31478	D	AEFGBHCIJ	0.965945	0.98831	D	0.447007308967318	0.64034	4.649048	0.53097273489573	0.70086	5.453553	1.0	0.98316	0.446893	0.09132	0	0.563428	0.19063	0	0.519653	0.09787	0	0.714379	0.83352	0	.	.	5.09	5.09	0.68647	9.535000	0.97135	11.650000	0.93875	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.845	0.92172	826	0.39940	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2896.98	34	chr1	200048508	.	G	A	2896.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=998;ExcessHet=0.0000;FS=0.954;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=-4.360e-01;SOR=0.781	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1417	20	0	1	0
chr1	200575631	200575631	C	T	exonic	KIF14	.	nonsynonymous SNV	KIF14:NM_001305792:exon20:c.G2053A:p.D685N	.	.	.	.	.	.	.	.	.	.	.	2763334	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.999	D	0.000	D	1.000	D	2.215	M	2.26	T	-0.958	T	0.123	T	0.132	4.473	23.9	4.69	2.267	5.912	17.970	0.263	0.0350281454125	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs762016099	1.321e-05	1.779e-05	8.3e-06	1.817e-05	4.869e-05	8.45e-06	6.81e-06	1.636e-05	9.66e-06	0	0	0	2.534e-05	0	0	1.276e-05	0	4.869e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.009	0.66756	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.99996	0.52935	D	2.985	0.85602	M	2.26	0.17596	T	-3.91	0.73042	D	0.611	0.62781	-0.9584	0.39479	T	0.123	0.42568	T	10	0.47496396	0.60088	T	0.035028	0.56072	D	0.263	0.57612	0.158	0.06178	0.410734915765	0.40690	0.5114942968775584	0.51071	0.451558173048	0.44902	0.530832529068	0.43152	T	0.248248	0.61802	T	-0.226495	0.17115	T	-0.499475	0.22403	T	0.948560861500375	0.62923	D	0.884312	0.60710	D	0.5104812	0.67707	0.3630501	0.61699	0.5104812	0.67708	0.3630501	0.61698	-4.876	0.35464	T	.	.	0.315	0.59981	B	.;.	.;.	5.123500	0.85707	28.7	0.99916667593800679	0.98449	0.96226	0.68115	D	AEFDBI	0.702066	0.65856	D	0.670347448717616	0.77691	6.723575	0.608922915630095	0.75589	6.336938	0.998702287275148	0.37498	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	4.69	4.69	0.58546	6.021000	0.70485	7.561000	0.60481	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:1.0:0.0:0.0	17.970	0.89029	572	0.70300	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	600.98	33	chr1	200575631	.	C	T	600.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.15;DP=721;ExcessHet=0.0000;FS=1.154;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.36;ReadPosRankSum=0.609;SOR=0.769	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1075	20	0	1	0
chr1	200617637	200617637	C	T	exonic	KIF14	.	nonsynonymous SNV	KIF14:NM_014875:exon2:c.G1087A:p.V363I,	.	.	436	1083	3	0	0	3	0.00138313	.	.	427685	KIF14-related_disorder|not_specified|Lethal_fetal_cerebrorenogenitourinary_agenesis/hypoplasia_syndrome|Microcephaly_20,_primary,_autosomal_recessive|not_provided	.|MedGen:CN169374|MONDO:MONDO:0014552,MedGen:C4015701,OMIM:616258,Orphanet:439897|MONDO:MONDO:0054761,MedGen:C4693572,OMIM:617914|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.99	D	0.893	P	0.000	N	1.000	D	1.595	L	-1.05	T	-0.025	T	0.430	T	0.194	4.891	28.1	4.66	1.349	2.258	14.084	0.236	0.0187411224978	0.0023	0.00219649	0.0027	0.0011	0.0013	0	0.0048	0.0032	0.0022	0.0033	0.0026778	414	154602	rs77828651	0.0037	0.0037	0.0038	0.0037	0.0041	0.0037	0.0036	0.0040	0.0039	0.0008	0.0018	0.0005	5.045e-05	0.0059	0.0014	0.0041	0.0027	0.0038	0.0025	0.0025	0.0025	0.0026	0.0037	0.0023	0.0022	0.0032	0.0030	0.0007	0	0.0024	0.0003	0	0.0049	0	0.0036	0.0028	0.0037	0.189	0.21224	T	0.15	0.32461	T	0.99	0.63424	D	0.893	0.63340	P	0.000060	0.53742	N	0.126111	0.999996	0.58761	D	2.055	0.56616	M	-1.05	0.76690	T	-0.64	0.18670	N	0.344	0.39052	-0.0248	0.81740	T	0.430	0.77206	T	10	0.016474038	0.00347	T	0.018741	0.40901	T	0.236	0.53931	.	.	0.597841522426	0.59464	0.3006561236912112	0.29978	0.122897714924	0.13848	0.232697501779	0.02174	T	0.097368	0.40011	T	-0.411552	0.01941	T	-0.362024	0.37817	T	0.0271552378220335	0.01566	T	0.922708	0.71908	D	0.16597466	0.36904	0.111040846	0.26782	0.15159582	0.34454	0.11152245	0.26900	-5.863	0.45119	T	.	.	0.079	0.07460	B	.;.	.;.	2.370772	0.30420	18.43	0.99855732565579181	0.93458	0.95903	0.66652	D	AEFBI	0.194472	0.32155	N	0.303092593565786	0.56307	3.79524	0.229584213804401	0.51497	3.331627	0.999999999487606	0.74766	0.489673	0.17934	0	0.586065	0.33999	0	0.608884	0.39905	0	0.662433	0.64102	0	.	.	5.57	4.66	0.57857	2.312000	0.43386	1.770000	0.28626	0.530000	0.24713	0.884000	0.31069	0.929000	0.28499	0.916000	0.45140	0.0:0.928:0.0:0.072	14.084	0.64472	607	0.67291	Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1587.98	37	chr1	200617637	.	C	T	1587.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.091e+00;DP=836;ExcessHet=0.0000;FS=0.649;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=-1.585e+00;SOR=0.598	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1204	20	0	1	0
chr1	200648497	200648497	C	T	exonic	DDX59	.	nonsynonymous SNV	DDX59:NM_001320182:exon4:c.G1196A:p.S399N	Orofaciodigital syndrome V, Autosomal recessive	.	438	1078	6	0	0	6	0.00277521	.	.	731989	DDX59-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	1	T	0.001	B	0.004	B	0.000	N	0.773	N	-0.85	N	3.67	T	-0.954	T	0.098	T	0.103	0.598	7.223	2.2	0.670	2.304	5.418	0.093	.	0.0003	0.000599042	0.0023	0	8.642e-05	0.0027	0.0209	0.0014	0.0121	0.0004	0.001837	284	154602	rs142176836	0.0012	0.0012	0.0012	0.0012	0.0044	0.0012	0.0011	0.0038	0.0036	5.974e-05	4.472e-05	0.0030	0.0044	0.0191	0.0003	0.0003	0.0016	0.0003	0.0022	0.0022	0.0012	0.0032	0.0035	0.0020	0.0019	0.0022	0.0019	4.812e-05	0	0	0.0014	0.0035	0.0253	0	0.0005	0.0014	0.0004	1.0	0.00964	T	1.0	0.06147	T	0.0	0.02946	B	0.003	0.08700	B	0.000011	0.62929	N	0.175925	0.772659	0.29420	N	-1.25	0.00764	N	-0.89	0.74793	T	1.62	0.00728	N	0.17	0.19055	-0.9536	0.40345	T	0.098	0.36625	T	10	0.0063795447	0.00144	T	.	.	.	0.093	0.26882	.	.	0.679564632244	0.67684	0.221576054682905	0.22072	0.161364074687	0.18212	0.383378326893	0.22735	T	0.051582	0.48177	T	-0.489007	0.00658	T	-0.474386	0.25044	T	0.0166809826254144	0.00426	T	0.808619	0.48339	T	0.032324035	0.03236	0.051525693	0.08311	0.043242123	0.06705	0.057601977	0.10500	-5.583	0.42637	T	0.039266365181355393	0.00314	0.077	0.27642	B	.;.;.;.	.;.;.;.	0.970564	0.13477	9.986	0.34652247087131688	0.02131	0.65471	0.32748	D	AEFDBI	0.082923	0.16794	N	-0.703375012187113	0.15926	0.8070129	-0.470327025663278	0.22976	1.250643	0.980282188322745	0.30119	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	5.5	2.2	0.26966	2.305000	0.43324	0.887000	0.22442	0.589000	0.31548	0.993000	0.37899	0.425000	0.24826	0.998000	0.85391	0.0:0.3862:0.0:0.6138	5.418	0.15683	629	0.65079	.;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1330.98	33	chr1	200648497	.	C	T	1330.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.180e-01;DP=887;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=0.049;SOR=0.740	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,108,1620	20	0	1	0
chr1	200850112	200850112	G	A	exonic	CAMSAP2	.	nonsynonymous SNV	CAMSAP2:NM_001297708:exon11:c.G3295A:p.V1099I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.983	D	0.908	P	0.000	D	1.000	D	1.905	M	2.23	T	-1.150	T	0.110	T	0.313	5.059	31	5.92	2.804	9.855	20.321	0.280	0.00643233359167	.	.	8.25e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs767992979	4.104e-06	4.104e-06	2.723e-06	5.5e-06	5.396e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.15717	T	0.183	0.29153	T	0.961	0.60381	D	0.747	0.64494	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.11	0.28643	L	2.23	0.18414	T	-0.61	0.18042	N	0.359	0.52119	-1.1503	0.01016	T	0.110	0.39604	T	10	0.22362337	0.39145	T	0.006432	0.16927	T	0.280	0.59740	0.402	0.43245	0.343804874344	0.33996	0.16845614833034608	0.16765	0.688400970098	0.60436	0.567480862141	0.48322	T	0.074023	0.34838	T	-0.131941	0.31184	T	-0.427301	0.30242	T	0.734199275228773	0.42429	D	0.919108	0.71813	D	0.07318178	0.16333	0.11735631	0.28330	0.07318178	0.16333	0.11735631	0.28329	-4.746	0.33956	T	.	.	0.245	0.47955	B	.;.;.	.;.;.	4.515459	0.70752	25.6	0.99816845687199518	0.89973	0.99829	0.99726	D	AEFGBI	0.865390	0.78447	D	0.798083632520775	0.85986	8.742778	0.838104879806171	0.92302	11.34911	0.999999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	9.988000	0.99205	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.321	0.98679	622	0.65860	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3759.98	40	chr1	200850112	.	G	A	3759.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=990;ExcessHet=0.0000;FS=1.426;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.38;ReadPosRankSum=-1.296e+00;SOR=0.596	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1099	20	0	1	0
chr1	200873840	200873840	A	T	exonic	GPR25	.	nonsynonymous SNV	GPR25:NM_005298:exon1:c.A803T:p.H268L,	.	.	363	1156	3	0	0	3	0.0012959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.014	B	0.017	B	0.364	U	0.785	N	-0.55	N	1.37	T	-1.016	T	0.032	T	0.48	0.543	6.941	4.62	1.721	1.446	5.585	0.201	0.033767549772	.	.	0.0002	0	8.962e-05	0	0	5.037e-05	0.0012	0.0011	0.0001682	26	154602	rs763346341	0.0001	0.0001	7.139e-05	0.0001	0.0009	9.123e-05	8.601e-05	0.0008	0.0007	2.992e-05	0	0.0009	0	0	0.0003	3.06e-05	0.0002	0.0009	6.602e-05	6.58e-05	5.162e-05	8.111e-05	0.0004	3.533e-05	2.628e-05	7.341e-05	3.048e-05	0	0	6.56e-05	0.0014	0	0	0	2.947e-05	0	0.0004	0.65	0.04848	T	0.605	0.07816	T	0.014	0.16867	B	0.017	0.18140	B	0.364288	0.13623	U	0.511992	0.784876	0.29292	N	-0.24	0.03895	N	1.37	0.34253	T	-2.16	0.48850	N	0.204	0.22614	-1.0163	0.24916	T	0.032	0.13767	T	10	0.023379087	0.00610	T	0.033768	0.55213	D	0.201	0.48592	0.588	0.71623	0.444404870569	0.44059	0.42861577720427235	0.42778	1.09498715062	0.77549	0.818857371807	0.84853	D	0.012408	0.10910	T	-0.442647	0.01248	T	-0.459049	0.26703	T	0.0367439637412836	0.03111	T	0.369163	0.08660	T	0.12296305	0.28882	0.117526725	0.28370	0.12296305	0.28882	0.117526725	0.28370	-0.935	0.00930	T	.	.	0.120	0.24833	B	.	.	2.354394	0.30192	18.36	0.93305085479157479	0.23019	0.17142	0.19707	N	AEFDBHCI	0.090691	0.18375	N	-0.683913308568022	0.16479	0.840007	-0.48969990254605	0.22437	1.218626	0.999876856823038	0.44625	0.495158	0.18159	0	0.616935	0.53198	0	0.478664	0.07449	1	0.554799	0.18163	0	.	.	4.62	4.62	0.56946	0.672000	0.24868	8.582000	0.77650	0.658000	0.54486	0.028000	0.20300	1.000000	0.68203	0.990000	0.65344	0.655:0.1756:0.0:0.1694	5.585	0.16550	814	0.42100	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1462.98	33	chr1	200873840	.	A	T	1462.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.56;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.63;ReadPosRankSum=-1.221e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1152	20	0	1	0
chr1	200908849	200908849	G	A	exonic	INAVA	.	nonsynonymous SNV	INAVA:NM_001142569:exon7:c.G694A:p.A232T	.	.	412	1108	2	0	0	2	0.000901713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.58	P	0.196	B	0.000	D	0.650	D	1.155	L	0.93	T	-0.948	T	0.055	T	0.196	2.380	13.92	4.02	2.313	1.844	9.342	0.070	.	7.7e-05	0.00219649	0.0009	0	0	0.0108	0	0.0001	0	0.0002	0.0007568	117	154602	rs143222538	0.0004	0.0004	0.0003	0.0004	0.0107	0.0003	0.0003	0.0098	0.0095	0	0	3.827e-05	0.0107	0	0.0003	4.587e-05	0.0004	0.0003	0.0004	0.0004	0.0003	0.0006	0.0110	0.0003	0.0003	0.0087	0.0079	0	0	6.538e-05	0	0.0110	0	0	5.881e-05	0.0005	0.0002	0.096	0.48186	T	0.11	0.37310	T	0.58	0.38813	P	0.196	0.36635	B	0.000019	0.62929	D	0.070427	0.650292	0.32957	D	.	.	.	0.9	0.45248	T	-1.07	0.27876	N	0.281	0.31814	-0.9477	0.41364	T	0.055	0.23148	T	10	0.006980002	0.00159	T	.	.	.	0.070	0.20419	.	.	0.0675242888579	0.06100	0.1998277629177605	0.19899	0.260815749323	0.28643	.	.	.	0.005468	0.04921	T	-0.506969	0.00522	T	-0.488679	0.23528	T	0.0307771134094995	0.02110	T	0.713629	0.32527	T	0.07654688	0.17318	0.077164665	0.17164	0.06943138	0.15211	0.08025226	0.18136	-3.86	0.21704	T	0.4753587322005225	0.55503	0.113	0.24396	B	.;.	.;.	2.563346	0.33199	19.27	0.99533658520752177	0.70025	0.72090	0.35299	D	AEFBCI	0.172579	0.29962	N	-0.00238491731406561	0.41747	2.50271	0.0673341020545108	0.42917	2.604469	0.999999659084637	0.74766	0.67177	0.52595	0	0.296712	0.05252	1	0.702456	0.68683	0	0.542086	0.14980	0	.	.	5.02	4.02	0.45968	1.810000	0.38570	6.188000	0.54728	0.676000	0.76740	0.993000	0.37899	1.000000	0.68203	0.308000	0.24690	0.0:0.0:0.6732:0.3268	9.342	0.37249	793	0.45818	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	825.98	36	chr1	200908849	.	G	A	825.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.749e+00;DP=746;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.02;ReadPosRankSum=1.18;SOR=0.573	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1201	20	0	1	0
chr1	200911787	200911792	TTCCCG	-	exonic	INAVA	.	nonframeshift deletion	INAVA:NM_001142569:exon9:c.1294_1299del:p.F432_P433del	.	.	429	1088	4	1	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1e-05	.	8.321e-05	0	0.0002	0	0	6.759e-05	0	0.0002	5.82e-05	9	154602	rs777879038	7.543e-05	7.524e-05	5.729e-05	9.377e-05	0.0005	6.397e-05	5.953e-05	0.0001	0.0001	0	4.492e-05	0	0	1.902e-05	0.0005	6.935e-05	0.0001	0.0002	3.941e-05	3.937e-05	1.285e-05	6.716e-05	0.0004	1.715e-05	1.129e-05	7.29e-05	3.029e-05	0	0	0	0	0	0	0	5.883e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	720.94	33	chr1	200911786	.	TTTCCCG	T	720.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.053e+00;DP=735;ExcessHet=0.0000;FS=2.843;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.08;MQRankSum=-1.085e+00;QD=18.02;ReadPosRankSum=0.176;SOR=0.296	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1082	20	0	1	0
chr1	200911793	200911793	G	A	exonic	INAVA	.	nonsynonymous SNV	INAVA:NM_001142569:exon9:c.G1300A:p.A434T	.	.	435	1082	4	1	0	6	0.00276498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.006	B	0.008	B	0.760	N	1.000	N	0.345	N	1.49	T	-0.995	T	0.038	T	0.051	0.355	5.925	1.7	0.055	1.267	3.708	0.034	0.0419303147656	.	.	8.562e-05	0	0.0002	0	0	6.964e-05	0	0.0002	3.84e-05	1	26028	rs755916582	7.547e-05	7.524e-05	5.732e-05	9.382e-05	0.0005	6.401e-05	5.956e-05	0.0001	0.0001	0	4.492e-05	0	0	1.92e-05	0.0005	6.936e-05	0.0001	0.0002	3.94e-05	3.937e-05	1.285e-05	6.715e-05	0.0004	1.714e-05	1.129e-05	7.287e-05	3.028e-05	0	0	0	0	0	0	0	5.881e-05	0	0.0004	0.255	0.17940	T	0.539	0.09795	T	0.006	0.13644	B	0.008	0.13708	B	0.760378	0.09628	N	0.870237	1	0.08975	N	.	.	.	1.49	0.31470	T	-0.88	0.23808	N	0.113	0.13055	-0.9946	0.31405	T	0.038	0.16203	T	10	0.05145967	0.05031	T	0.04193	0.60190	D	0.034	0.08419	0.325	0.30711	0.043077524339	0.03247	0.3694055482341086	0.36854	1.81697506507	0.91868	.	.	.	0.002547	0.01934	T	-0.509598	0.00505	T	-0.690343	0.06369	T	0.0298145617679593	0.01960	T	0.611839	0.23263	T	0.041180566	0.06017	0.040234387	0.04303	0.041180566	0.06017	0.040234387	0.04302	-4.731	0.33777	T	0.33422020730849744	0.43218	0.079	0.11749	B	.;.	.;.	1.637254	0.20899	14.96	0.96088599257380891	0.28676	0.03289	0.08339	N	AEFDGBI	0.049419	0.08536	N	-0.967428828425485	0.09306	0.4398626	-0.957331051657803	0.10753	0.5436213	0.999761227445613	0.42728	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.542086	0.14980	0	.	.	4.75	1.7	0.23359	1.569000	0.36037	2.655000	0.33841	0.676000	0.76740	0.113000	0.23048	0.912000	0.28152	0.623000	0.31974	0.0945:0.1649:0.5703:0.1703	3.708	0.07938	793	0.45818	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	726.98	33	chr1	200911793	.	G	A	726.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.386e+00;DP=720;ExcessHet=0.0000;FS=1.289;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.25;MQRankSum=-8.020e-01;QD=19.13;ReadPosRankSum=0.015;SOR=0.377	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1082	20	0	1	0
chr1	200911796	200911796	G	T	exonic	INAVA	.	nonsynonymous SNV	INAVA:NM_001142569:exon9:c.G1303T:p.G435W	.	.	435	1082	4	1	0	6	0.00276498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.661	P	0.299	B	0.003	N	1.000	N	0.695	N	1.38	T	-1.006	T	0.071	T	0.47	1.884	12.26	4.75	2.189	3.390	14.688	0.190	0.135756030677	.	.	8.694e-05	0	0.0002	0	0	7.065e-05	0	0.0002	3.84e-05	1	26028	rs779669000	7.55e-05	7.525e-05	5.734e-05	9.385e-05	0.0006	6.403e-05	5.958e-05	0.0002	0.0001	0	4.493e-05	0	0	1.929e-05	0.0006	6.936e-05	0.0001	0.0002	3.939e-05	3.937e-05	1.285e-05	6.714e-05	0.0004	1.714e-05	1.129e-05	7.29e-05	3.029e-05	0	0	0	0	0	0	0	5.88e-05	0	0.0004	0.001	0.78490	D	0.031	0.53788	D	0.661	0.40924	P	0.299	0.41006	B	0.003130	0.35389	N	0.228410	0.99973	0.20548	N	.	.	.	1.38	0.34050	T	-3.62	0.69593	D	0.579	0.60071	-1.0060	0.28156	T	0.071	0.29034	T	10	0.5797992	0.65785	D	0.135756	0.81822	D	0.190	0.46781	0.67	0.80803	0.0675242888579	0.06100	0.5274216825433382	0.52666	2.76950302636	0.98794	.	.	.	0.063101	0.32088	T	-0.259603	0.12947	T	-0.331243	0.41331	T	0.314848530655928	0.25612	T	0.684832	0.29327	T	0.26516032	0.49584	0.24454196	0.49923	0.26516032	0.49584	0.24454196	0.49922	-8.022	0.61220	D	0.5208218428137787	0.59311	0.295	0.52574	B	.;.	.;.	3.745757	0.53657	23.4	0.9733299195971804	0.33432	0.85910	0.45099	D	AEFDGBI	0.344049	0.43966	N	-0.0264383182626758	0.40660	2.418536	0.00350490777651215	0.39877	2.371161	0.999999967070022	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.542086	0.14980	0	.	.	4.75	4.75	0.59954	2.967000	0.48908	3.448000	0.38427	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.596000	0.31288	0.0:0.0:1.0:0.0	14.688	0.68676	793	0.45818	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	726.98	37	chr1	200911796	.	G	T	726.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.925e+00;DP=727;ExcessHet=0.0000;FS=1.289;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.12;MQRankSum=-8.020e-01;QD=19.13;ReadPosRankSum=0.301;SOR=0.377	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1082	20	0	1	0
chr1	200976880	200976880	C	T	exonic	KIF21B	.	nonsynonymous SNV	KIF21B:NM_001252103:exon31:c.G4300A:p.G1434S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.977	D	0.68	P	0.000	D	1.000	D	1.85	L	0.26	T	-0.506	T	0.277	T	0.544	4.040	20.7	5.09	2.353	7.768	18.493	0.319	0.0315753125472	.	.	5.099e-05	0	0	0.0002	0	6.157e-05	0	0	3.88e-05	6	154602	rs773631554	2.128e-05	2.189e-05	2.319e-05	1.934e-05	0.0002	1.525e-05	1.329e-05	1.465e-05	1.231e-05	0	4.504e-05	7.677e-05	2.528e-05	0	0.0002	2.165e-05	1.664e-05	0	3.285e-05	3.283e-05	5.138e-05	1.345e-05	5.879e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	2.412e-05	0	0	0	0	0	0	5.879e-05	0	0	0.006	0.61437	D	0.01	0.65728	D	0.972	0.58535	D	0.552	0.53472	P	0.000002	0.62929	D	0.059016	0.999999	0.58761	D	3.165	0.88605	M	0.26	0.59314	T	-4.28	0.76334	D	0.63	0.64989	-0.5057	0.68443	T	0.277	0.64906	T	10	0.6244365	0.68161	D	0.031575	0.53626	D	0.319	0.64112	0.488	0.57257	0.65606726329	0.65319	0.43434579447617916	0.43351	1.39758405531	0.85125	0.562085151672	0.47562	T	0.19879	0.55588	T	-0.0553118	0.43636	T	-0.136932	0.60384	T	0.925227463245392	0.58683	D	0.988564	0.96090	D	0.4458392	0.63777	0.41821453	0.65852	0.4458392	0.63778	0.41821453	0.65852	-11.924	0.84478	D	.	.	0.238	0.52068	B	.;.;.;.	.;.;.;.	4.392131	0.67793	25.1	0.99811186816189046	0.89531	0.99673	0.98548	D	AEFBI	0.927122	0.90928	D	0.526382920173128	0.68655	5.247183	0.494373369836041	0.67616	5.107979	0.999999999531666	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	5.09	5.09	0.68647	7.892000	0.85858	5.871000	0.50535	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.123000	0.19290	0.0:1.0:0.0:0.0	18.493	0.90802	711	0.56613	.;.;.;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	564.98	34	chr1	200976880	.	C	T	564.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.91;ReadPosRankSum=-6.600e-02;SOR=0.708	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1162	20	0	1	0
chr1	200992290	200992290	G	A	exonic	KIF21B	.	stopgain	KIF21B:NM_001252100:exon16:c.C2377T:p.R793X	.	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.81	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	10.174	43	4.27	1.123	1.563	12.477	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.056e-06	2.736e-06	4.092e-06	0	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.502	0.53445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574913	0.96804	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Recessive	.;.;.;High	8.956300	0.98259	39	0.99837803481308307	0.91886	0.89712	0.50354	D	AEFDBI	0.497216	0.53183	N	0.651875628263769	0.76489	6.496182	0.496412470305392	0.67750	5.126245	0.0340284642817594	0.14134	0.706548	0.73137	0	0.724815	0.89359	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	5.21	4.27	0.50009	1.631000	0.36704	4.735000	0.44575	0.618000	0.50648	0.985000	0.35982	1.000000	0.68203	0.979000	0.57723	0.0:0.0:0.5535:0.4465	12.477	0.55158	769	0.49307	.;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	677.98	44	chr1	200992290	.	G	A	677.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=765;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=-2.900e-01;SOR=0.583	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1363	20	0	1	0
chr1	201089263	201089263	A	G	exonic	CACNA1S	.	nonsynonymous SNV	CACNA1S:NM_000069:exon6:c.T895C:p.Y299H,	Hypokalemic periodic paralysis, type 1, Autosomal dominant	YES	1	1517	4	0	0	4	0.00131666	.	.	249651	Thyrotoxic_periodic_paralysis,_susceptibility_to,_1|Malignant_hyperthermia,_susceptibility_to,_5|not_provided|Hypokalemic_periodic_paralysis,_type_1|not_specified|Congenital_myopathy_18	MONDO:MONDO:0008570,MedGen:C2749982,OMIM:188580,Orphanet:79102|MONDO:MONDO:0011163,MedGen:C1866077,OMIM:601887,Orphanet:423|MedGen:C3661900|MONDO:MONDO:0042979,MedGen:C3714580,OMIM:170400,Orphanet:681|MedGen:CN169374|MONDO:MONDO:0859514,MedGen:C5830283,OMIM:620246	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.825	H	-4.42	D	0.563	D	0.904	D	0.351	4.151	21.5	4.85	1.952	9.065	14.714	0.873	.	0.0070	0.00479233	0.0021	0.0235	0.0009	0	0	3.004e-05	0.0011	6.065e-05	0.0019987	309	154602	rs35856559	0.0008	0.0008	0.0009	0.0007	0.0287	0.0008	0.0008	0.0272	0.0266	0.0287	0.0011	0	5.038e-05	0	0.0017	2.248e-05	0.0020	6.956e-05	0.0072	0.0072	0.0071	0.0073	0.0252	0.0068	0.0067	0.0239	0.0234	0.0252	0	0.0022	0	0.0006	0	0	4.41e-05	0.0028	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000044	0.53742	D	0.128767	0.999984	0.54805	D	4.08	0.97210	H	-4.42	0.97469	D	-4.47	0.77881	D	0.962	0.97750	0.563	0.91403	D	0.904	0.96805	D	10	0.016077429	0.00338	T	.	.	.	0.873	0.96207	.	.	0.962102009836	0.96169	0.9201713788713717	0.91993	0.592222424292	0.54623	0.876785755157	0.93524	D	0.783625	0.96710	D	-0.0789796	0.39881	T	0.134047	0.79155	D	0.083338474373864	0.10409	T	0.988576	0.96102	D	0.8064364	0.84320	0.75526536	0.85536	0.7769782	0.82470	0.73921686	0.84587	-11.211	0.80802	D	0.7729291170277761	0.85373	0.797	0.77135	P	.;.	.;.	4.861463	0.79558	27.1	0.99852932686632134	0.93191	0.94460	0.61236	D	AEFGBHCI	0.905360	0.85678	D	0.90775613330826	0.92133	11.25219	0.783717617337833	0.88637	9.658235	0.999999999999997	0.74766	0.55562	0.30534	0	0.563428	0.19063	0	0.68496	0.61776	0	0.530356	0.10902	0	.	.	4.85	4.85	0.62375	9.154000	0.93851	11.026000	0.85008	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	1.0:0.0:0.0:0.0	14.714	0.68869	917	0.20147	Ion transport domain;Ion transport domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1472.98	34	chr1	201089263	.	A	G	1472.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.206;DP=849;ExcessHet=0.0000;FS=5.128;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.45;ReadPosRankSum=-3.670e-01;SOR=0.387	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1459	20	0	1	0
chr1	201114837	201114837	G	T	exonic	ASCL5	.	nonsynonymous SNV	ASCL5:NM_001270601:exon1:c.C536A:p.A179E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163617490137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.858e-06	1.368e-06	3.521e-06	0	2.179e-06	3.1e-07	1.2e-07	3.6e-07	1.4e-07	0	0	0	0	0	0	2.179e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.49390	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.44	0.97515	D	.	.	.	0.049	0.02088	.	.	.	.	.	.	.	0.12459558	0.23668	T	0.163617	0.84292	D	.	.	.	.	0.753348587105	0.75111	0.15291581135919202	0.15213	.	.	0.697226822376	0.66743	T	.	.	.	-0.0472794	0.44860	T	-0.30569	0.44120	T	.	.	.	0.207379	0.02472	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.11989	B	.;.	.;.	0.533155	0.09019	5.800	0.89459806907674799	0.18815	0.03800	0.09130	N	AEFDBHCI	0.030900	0.03197	N	.	.	.	.	.	.	0.999997209761097	0.74766	0.495885	0.18260	0	0.491552	0.07993	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	3.95	-4.93	0.02839	-1.663000	0.02070	-0.055000	0.12496	-0.366000	0.05473	0.000000	0.06391	0.000000	0.08366	0.049000	0.15107	0.2198:0.3082:0.1901:0.282	0.500	0.00540	900	0.24599	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	416.98	36	chr1	201114837	.	G	T	416.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.244e+00;DP=726;ExcessHet=0.0000;FS=1.339;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.70;ReadPosRankSum=0.559;SOR=1.015	GT:AD:DP:GQ:PL	0/0:29,0:29:60:0,60,900	20	0	1	0
chr1	201135776	201135776	C	T	exonic	TMEM9	.	nonsynonymous SNV	TMEM9:NM_001288565:exon5:c.G439A:p.G147R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.473	P	0.335	B	0.007	N	1.000	N	0.66	N	.	.	-1.012	T	0.055	T	0.2	2.863	15.54	3.8	0.965	1.885	8.452	0.087	0.00906955618678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.164e-06	6.156e-06	9.54e-06	2.753e-06	6.299e-06	2.9e-06	2.1e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.299e-06	3.317e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.852	0.03005	T	0.396	0.15255	T	0.001	0.07471	B	0.003	0.08700	B	0.006558	0.31955	N	0.140101	0.999827	0.20203	N	0.05	0.08135	N	.	.	.	0.72	0.02099	N	0.435	0.61426	-1.0124	0.26165	T	0.055	0.23148	T	9	0.13126945	0.24983	T	0.00907	0.23869	T	0.087	0.25287	0.373	0.38503	0.472102515431	0.46837	0.43048907856438506	0.42965	0.491041322685	0.47806	0.504313290119	0.39428	T	0.016918	0.13896	T	-0.153603	0.27749	T	-0.458417	0.26771	T	0.815807700157166	0.47463	D	0.753825	0.37593	T	0.04458247	0.07153	0.044720333	0.05858	0.04458247	0.07152	0.044720333	0.05858	-2.877	0.08915	T	.	.	0.152	0.36234	B	.;.;.;.;.	.;.;.;.;.	3.425535	0.47581	22.5	0.99305663299149161	0.58795	0.19602	0.20724	N	AEFBI	0.249704	0.36989	N	-0.688561751151728	0.16347	0.8320101	-0.581142962930112	0.19985	1.07472	0.979070323950974	0.29989	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.72	3.8	0.42887	4.850000	0.62587	4.755000	0.44682	0.549000	0.26987	0.980000	0.35271	1.000000	0.68203	0.904000	0.43992	0.0:0.8199:0.0:0.1801	8.452	0.32035	928	0.17405	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1527.98	36	chr1	201135776	.	C	T	1527.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=854;ExcessHet=0.0000;FS=4.169;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=-1.750e-01;SOR=0.425	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1258	20	0	1	0
chr1	201209118	201209118	G	T	exonic	IGFN1	.	nonsynonymous SNV	IGFN1:NM_001164586:exon12:c.G4225T:p.G1409C,	.	.	421	1095	6	0	0	6	0.00273224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	0	N	-4.74	D	-0.015	T	0.657	D	0.088	1.492	10.94	-4.87	-1.444	-0.297	1.710	0.178	.	.	0.00319489	0.0074	0	0	0	0	0	0.0074	0.0187	0.0008409	130	154602	rs578206003	0.0009	0.0009	0.0005	0.0013	0.0150	0.0009	0.0008	0.0143	0.0140	0	0	0	2.799e-05	0	0.0005	3.711e-06	0.0010	0.0150	0.0005	0.0005	0.0003	0.0007	0.0159	0.0004	0.0004	0.0131	0.0120	0	0	0	0	0	0	0.0034	1.475e-05	0.0005	0.0159	0.006	0.61437	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.20930	N	.	.	.	-4.74	0.98081	D	-0.45	0.14782	N	0.166	0.17553	-0.0148	0.81947	T	0.657	0.88057	D	6	0.003960043	0.00076	T	.	.	.	0.178	0.44724	0.159	0.06287	0.227934060464	0.22382	0.4236881981105425	0.42285	.	.	0.323072105646	0.13887	T	.	.	.	-0.361009	0.04073	T	-0.279664	0.46838	T	0.0224062828441333	0.00954	T	0.261074	0.04204	T	.	.	.	.	.	.	.	.	-8.552	0.64773	D	.	.	0.158	0.34970	B	.	.	1.690934	0.21541	15.25	0.96295619820670519	0.29331	0.02238	0.06495	N	AEFBI	0.043410	0.06858	N	-1.32565546546134	0.03384	0.1510825	-1.51103641400318	0.02259	0.1036114	0.00119913445643312	0.08324	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.44	-4.87	0.02893	0.026000	0.13490	-1.300000	0.05777	-0.598000	0.04625	0.000000	0.06391	0.000000	0.08366	0.067000	0.16453	0.1806:0.3051:0.3605:0.1537	1.710	0.02716	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2020.98	107	chr1	201209118	.	G	T	2020.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.027;DP=1998;ExcessHet=0.0000;FS=2.033;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=0.781;SOR=0.545	GT:AD:DP:GQ:PL	0/0:100,0:100:99:0,120,1800	20	0	1	0
chr1	201209540	201209647	GGATGGTTTAGGAGGTTCTGAAGAAATGGGGTCAGTGAATAAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAG	-	exonic	IGFN1	.	nonframeshift deletion	IGFN1:NM_001164586:exon12:c.4647_4754del:p.E1556_S1591del,	.	.	426	1075	15	0	6	21	0.00692841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	0	0	0	0	0.0073	0	0.0014	.	.	.	.	0.0006	0.0005	0.0006	0.0006	0.0011	0.0005	0.0005	0.0009	0.0009	3.963e-05	0.0004	0.0221	0	0	0.0011	0.0001	0.0017	0.0011	0.0015	0.0012	0.0015	0.0015	0.0029	0.0013	0.0012	0.0014	0.0010	0.0002	0	0.0007	0.0425	0	0	0	0.0003	0.0009	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	7193.51	294	chr1	201209539	.	CGGATGGTTTAGGAGGTTCTGAAGAAATGGGGTCAGTGAATAAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAG	GGGATGGTTTAGGAGGTTCTGAAGAAATGGGGTCAGTGAATAAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAG,C	7193.51	.	AC=5,1;AF=0.250,0.050;AN=20;BaseQRankSum=3.28;DP=5820;ExcessHet=1.7912;FS=3.273;InbreedingCoeff=-0.3775;MLEAC=8,2;MLEAF=0.400,0.100;MQ=58.68;MQRankSum=-1.180e+01;QD=4.16;ReadPosRankSum=-5.710e+00;SOR=1.032	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:193,0,0:193:99:.:.:0,120,1800,120,1800,1800	4	0	5	11
chr1	201209552	201209552	A	0	exonic	IGFN1	.	.	.	.	.	427	1062	28	0	5	33	0.0130112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6307.61	317	chr1	201209552	.	A	G,*	6307.61	.	AC=5,1;AF=0.417,0.083;AN=12;BaseQRankSum=-1.020e-01;DP=6709;ExcessHet=1.7912;FS=4.049;InbreedingCoeff=-0.4737;MLEAC=9,2;MLEAF=0.750,0.167;MQ=58.39;MQRankSum=-1.237e+01;QD=3.47;ReadPosRankSum=-6.142e+00;SOR=1.068	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:368,0,0:368:0:.:.:0,0,8436,0,8436,8436	0	0	5	15
chr1	201209574	201209574	G	A	exonic	IGFN1	.	nonsynonymous SNV	IGFN1:NM_001164586:exon12:c.G4681A:p.V1561M,	.	.	424	1088	5	0	5	10	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	N	0	N	-2.34	D	-0.641	T	0.335	T	0.032	1.162	9.731	0.207	-0.136	0.874	7.689	0.111	0.0424514690007	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1199560350	2.2e-06	5.826e-05	0	4.463e-06	8.755e-05	5.9e-07	1.6e-07	2.32e-05	1.243e-05	0	0	0	8.755e-05	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.058	0.37750	T	0.23	0.25135	T	.	.	.	.	.	.	.	.	.	.	1	0.31195	N	.	.	.	-2.34	0.87989	D	-0.18	0.09796	N	0.058	0.02964	-0.6413	0.63091	T	0.335	0.70190	T	6	0.09829211	0.17760	T	0.042451	0.60473	D	0.111	0.31313	.	.	0.418221603839	0.41440	0.4259469644963177	0.42511	.	.	0.345199108124	0.17212	T	.	.	.	-0.208911	0.19532	T	-0.537862	0.18506	T	0.0624787049460526	0.07554	T	0.334067	0.07092	T	.	.	.	.	.	.	.	.	-6.804	0.52589	T	.	.	0.148	0.32804	B	.	.	0.387019	0.07588	4.245	0.90860894993395269	0.20109	0.02096	0.06219	N	AEFBI	0.055340	0.10140	N	-0.931187694329861	0.10118	0.482022	-1.08983207664597	0.07899	0.3861357	4.72183203972467E-5	0.03989	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	1.39	0.207	0.14491	-0.178000	0.09775	-9.871000	0.00766	-1.787000	0.00643	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2665:0.7335:0.0	7.689	0.27722	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	50.99	322	chr1	201209574	.	G	A,*	50.99	.	AC=1,1;AF=0.036,0.036;AN=28;BaseQRankSum=-2.420e-01;DP=7265;ExcessHet=0.1072;FS=0.688;InbreedingCoeff=-0.1507;MLEAC=1,1;MLEAF=0.036,0.036;MQ=57.47;MQRankSum=-1.159e+01;QD=0.07;ReadPosRankSum=-3.765e+00;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:422,0,0:422:0:.:.:0,0,10544,0,10544,10544	12	0	1	7
chr1	201209574	201209574	G	0	exonic	IGFN1	.	.	.	.	.	424	1088	5	0	5	10	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	50.99	322	chr1	201209574	.	G	A,*	50.99	.	AC=1,1;AF=0.036,0.036;AN=28;BaseQRankSum=-2.420e-01;DP=7265;ExcessHet=0.1072;FS=0.688;InbreedingCoeff=-0.1507;MLEAC=1,1;MLEAF=0.036,0.036;MQ=57.47;MQRankSum=-1.159e+01;QD=0.07;ReadPosRankSum=-3.765e+00;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:422,0,0:422:0:.:.:0,0,10544,0,10544,10544	12	0	1	7
chr1	201209577	201209577	A	G	exonic	IGFN1	.	nonsynonymous SNV	IGFN1:NM_001164586:exon12:c.A4684G:p.N1562D,	.	.	428	1084	5	0	5	10	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	0	N	-2.33	D	-0.819	T	0.308	T	0.056	0.608	7.274	-1.02	-0.656	0.238	6.065	0.175	0.0190191815074	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1266023800	0	5.088e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.341	0.12673	T	0.236	0.24694	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-2.33	0.87910	D	-0.62	0.18248	N	0.062	0.03392	-0.8192	0.53984	T	0.308	0.67831	T	6	0.07540259	0.11648	T	0.019019	0.41266	T	0.175	0.44197	.	.	0.319970858106	0.31615	0.26554459910632044	0.26467	.	.	0.361872196198	0.19658	T	.	.	.	-0.213361	0.18908	T	-0.544255	0.17882	T	0.0424012125872128	0.04128	T	0.20408	0.02372	T	.	.	.	.	.	.	.	.	-5.531	0.42157	T	.	.	0.106	0.19800	B	.	.	-0.816030	0.01075	0.047	0.80079953806396409	0.13035	0.00057	0.00426	N	AEFBI	0.026151	0.01914	N	-1.29212876401835	0.03769	0.1689677	-1.44933870245113	0.02776	0.1282977	1.29537362201582E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	1.71	-1.02	0.09618	-2.873000	0.00788	-3.768000	0.02550	-0.903000	0.02311	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.6681:0.0:0.3319:0.0	6.065	0.19081	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.0625	68.24	322	chr1	201209577	.	A	G,*	68.24	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=-1.238e+00;DP=7358;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.1301;MLEAC=1,1;MLEAF=0.031,0.031;MQ=57.44;MQRankSum=-1.147e+01;QD=0.09;ReadPosRankSum=-4.409e+00;SOR=0.630	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:418,0,0:418:0:.:.:0,0,10343,0,10343,10343	14	0	1	5
chr1	201209577	201209577	A	0	exonic	IGFN1	.	.	.	.	.	428	1084	5	0	5	10	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	68.24	322	chr1	201209577	.	A	G,*	68.24	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=-1.238e+00;DP=7358;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.1301;MLEAC=1,1;MLEAF=0.031,0.031;MQ=57.44;MQRankSum=-1.147e+01;QD=0.09;ReadPosRankSum=-4.409e+00;SOR=0.630	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:418,0,0:418:0:.:.:0,0,10343,0,10343,10343	14	0	1	5
chr1	201209798	201209798	-	GCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA	exonic	IGFN1	.	nonframeshift insertion	IGFN1:NM_001164586:exon12:c.4905_4906insGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA:p.G1647_I1648insMGSGSKASFRDGLGGSGEMGSVNEAGYRKDLGAPKG,	.	.	682	662	104	2	72	180	0.075419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0	0	0	0	0.0021	0	0	.	.	.	.	0.0018	0.0016	0.0018	0.0018	0.0119	0.0017	0.0016	0.0084	0.0073	0.0119	0.0021	0.0016	0.0109	0.0043	0	0.0013	0.0023	0.0021	0.0006	0.0094	0.0010	0.0002	0.0037	0.0003	0.0002	0.0001	7.467e-05	0.0004	0	0.0007	0	0.0037	0.0015	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	21447.27	257	chr1	201209798	.	G	GGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA	21447.27	.	AC=8;AF=0.667;AN=12;BaseQRankSum=-9.710e-01;DP=6247;ExcessHet=0.0045;FS=0.524;InbreedingCoeff=0.2535;MLEAC=17;MLEAF=1.00;MQ=53.84;MQRankSum=-7.397e+00;QD=23.83;ReadPosRankSum=-9.608e+00;SOR=0.772	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:409,0:409:0:.:.:0,0,3234	1	3	2	15
chr1	201209836	201209836	-	GGGTTC	exonic	IGFN1	.	nonframeshift insertion	IGFN1:NM_001164586:exon12:c.4943_4944insGGGTTC:p.I1648delinsMGS,	.	.	422	1070	28	0	2	30	0.0129151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0003	0	0	3.84e-05	1	26028	rs764283275	9.788e-06	0.0002	1.337e-05	6.108e-06	5.809e-05	5.46e-06	4.21e-06	9.62e-06	3.6e-06	0	0	0	5.809e-05	0	0	9.653e-06	1.805e-05	0	6.799e-06	0.0002	1.327e-05	0	.	0	0	.	.	0	0	0	0	0	9.775e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	8560.35	257	chr1	201209836	.	T	TGGGTTC	8560.35	.	AC=4;AF=0.100;AN=40;BaseQRankSum=2.74;DP=6643;ExcessHet=0.7148;FS=1.833;InbreedingCoeff=0.0162;MLEAC=4;MLEAF=0.100;MQ=52.22;MQRankSum=-7.702e+00;QD=5.90;ReadPosRankSum=-4.416e+00;SOR=0.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:426,0:426:99:.:.:0,120,1800	16	0	4	1
chr1	201209837	201209837	-	GGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATG	exonic	IGFN1	.	nonframeshift insertion	IGFN1:NM_001164586:exon12:c.4944_4945insGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATG:p.S1650_G1651insKASFRDGLGGSGEMGSVNEAGYRKDLGAPKGMGS,	.	.	516	555	409	0	42	451	0.269256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0.0008	0	0	.	.	.	.	1.544e-05	0.0005	2.273e-05	7.867e-06	0.0002	7.64e-06	4.8e-06	6.16e-06	3.39e-06	0	0	0	0.0002	0	0	1.436e-05	5.053e-05	0	5.356e-05	0.0009	5.097e-05	5.641e-05	5.625e-05	8.87e-06	3.32e-06	.	.	0	0	0	0	0	0.0004	0	5.625e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14067.83	177	chr1	201209837	.	A	G,AGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATG	14067.83	.	AC=3,4;AF=0.214,0.286;AN=14;BaseQRankSum=1.99;DP=7537;ExcessHet=3.1160;FS=2.726;InbreedingCoeff=-0.4173;MLEAC=5,7;MLEAF=0.357,0.500;MQ=52.14;MQRankSum=-6.885e+00;QD=7.29;ReadPosRankSum=-1.433e+01;SOR=0.720	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:470,0,0:470:0:.:.:0,0,3893,0,3893,3893	0	0	3	14
chr1	201211012	201211012	C	A	exonic	IGFN1	.	nonsynonymous SNV	IGFN1:NM_001164586:exon12:c.C6119A:p.A2040D,	.	.	440	963	112	1	6	120	0.0558824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	0	N	0.92	T	-1.099	T	0.036	T	0.039	-0.268	2.716	-5.71	-4.359	-1.907	1.091	0.015	0.00709800692553	.	.	.	.	.	.	.	.	.	.	.	.	.	rs58792551	0.0014	0.0025	0.0014	0.0014	0.0064	0.0013	0.0013	0.0057	0.0054	0.0010	0.0019	0.0027	0.0064	0.0031	0.0006	0.0012	0.0023	0.0004	2.712e-05	5.945e-05	3.498e-05	1.871e-05	0.0006	7.21e-06	3e-06	0.0001	4.151e-05	3.218e-05	0	0	0	0.0006	0	0	0	0	0	0.007	0.59928	D	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.92	0.44461	T	-0.01	0.07155	N	0.081	0.05670	-1.0989	0.04227	T	0.036	0.15378	T	6	0.07361832	0.11148	T	0.007098	0.18814	T	0.015	0.02232	0.198	0.11110	0.0611884634855	0.05136	0.4005840240631751	0.39973	.	.	0.388744324446	0.23493	T	.	.	.	-0.399969	0.02316	T	-0.812304	0.01614	T	0.0642949969481738	0.07826	T	0.269973	0.04523	T	.	.	.	.	.	.	.	.	-9.492	0.70809	D	.	.	0.140	0.30660	B	.	.	-1.615603	0.00232	0.004	0.28537350981167992	0.01470	0.00307	0.01628	N	AEFBI	0.044882	0.07275	N	-2.16159657607577	0.00093	0.003994879	-2.34148725282434	0.00054	0.002357071	0.999962635586944	0.48965	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	2.85	-5.71	0.02218	-6.621000	0.00073	.	.	-7.833000	0.00001	0.000000	0.06391	.	.	0.000000	0.00833	0.2536:0.3503:0.1677:0.2285	1.091	0.01561	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.03846	457.62	277	chr1	201211012	.	C	A	457.62	.	AC=1;AF=0.038;AN=26;BaseQRankSum=-1.913e+00;DP=4218;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1351;MLEAC=1;MLEAF=0.038;MQ=53.53;MQRankSum=-4.310e-01;QD=3.09;ReadPosRankSum=3.09;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:157,0:157:99:.:.:0,120,1800	12	0	1	8
chr1	201217373	201217373	G	A	exonic	IGFN1	.	nonsynonymous SNV	IGFN1:NM_001164586:exon17:c.G9682A:p.G3228S	.	.	423	1086	13	0	0	13	0.00594966	.	.	2815917	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.26	M	0.41	T	-0.150	T	0.362	T	0.347	4.698	26.0	3.77	0.953	5.910	11.021	0.371	0.0450691315221	0.0030	0.00179712	0.0031	0.0004	0.0010	0	0.0023	0.0042	0.0044	0.0039	0.0030401	470	154602	rs143014998	0.0040	0.0040	0.0041	0.0040	0.0045	0.0039	0.0039	0.0044	0.0044	0.0004	0.0015	0.0023	0	0.0027	0.0016	0.0045	0.0037	0.0039	0.0026	0.0026	0.0026	0.0026	0.0040	0.0024	0.0023	0.0036	0.0034	0.0006	0	0.0016	0.0023	0	0.0044	0	0.0040	0.0009	0.0033	0.001	0.78490	D	0.0	0.92824	D	.	.	.	.	.	.	0.000001	0.84330	D	0.000000	0.998478	0.46032	D	3.585	0.93597	H	0.41	0.57100	T	-5.73	0.87611	D	0.441	0.47949	-0.1498	0.78921	T	0.362	0.72338	T	10	0.010296851	0.00230	T	0.045069	0.61798	D	0.371	0.69016	.	.	0.51058355623	0.50700	0.3258561252445839	0.32498	.	.	0.482014596462	0.36334	T	0.043816	0.26620	T	-0.321231	0.06797	T	-0.233112	0.51470	T	0.0411853397761261	0.03905	T	0.831417	0.49863	T	0.19212675	0.40869	0.31738853	0.57713	0.19212675	0.40869	0.31738853	0.57713	-11.968	0.84695	D	.	.	0.201	0.42506	B	.;.	.;.	3.208461	0.43659	21.8	0.99857758233966909	0.93639	0.96599	0.69949	D	AEFDBI	0.753477	0.69365	D	0.111690557198599	0.47007	2.932596	-0.0115667840431473	0.39191	2.320025	0.958242151208714	0.28351	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.68	3.77	0.42499	6.016000	0.70451	3.139000	0.36475	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.277000	0.23942	0.0871:0.0:0.9129:0.0	11.021	0.46932	917	0.20147	.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1417.98	34	chr1	201217373	.	G	A	1417.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.785;DP=799;ExcessHet=0.0000;FS=2.429;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=0.023;SOR=0.494	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1328	20	0	1	0
chr1	201313277	201313277	G	A	exonic	PKP1	.	nonsynonymous SNV	PKP1:NM_000299:exon3:c.G418A:p.A140T	Ectodermal dysplasia/skin fragility syndrome	.	.	.	.	.	.	.	.	.	.	279729	Epidermolysis_bullosa_simplex_due_to_plakophilin_deficiency|PKP1-related_disorder|not_provided	MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536,Orphanet:158668|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.3	T	0.004	B	0.001	B	0.010	N	1.000	N	0	N	-0.81	T	-0.993	T	0.119	T	0.122	1.316	10.31	2.21	1.155	1.789	9.149	0.070	0.0278449773218	0.0014	0.00119808	0.0009	0.0088	0.0008	0	0	0	0	8.949e-05	0.0005369	83	154602	rs77893096	0.0003	0.0003	0.0003	0.0002	0.0077	0.0002	0.0002	0.0069	0.0066	0.0077	0.0005	0	0	0	0.0010	4.063e-05	0.0008	0.0001	0.0021	0.0021	0.0022	0.0020	0.0073	0.0019	0.0018	0.0066	0.0064	0.0073	0	0.0008	0	0	0	0.0068	2.94e-05	0.0009	0.0002	0.092	0.32929	T	0.284	0.22761	T	0.001	0.12183	B	0.001	0.04355	B	0.009642	0.30263	N	0.228496	0.999999	0.08975	N	0	0.06538	N	-0.9	0.74896	T	-0.94	0.25118	N	0.356	0.39760	-0.9934	0.31722	T	0.119	0.41648	T	10	0.0055290163	0.00122	T	0.027845	0.50607	D	0.070	0.20419	.	.	0.618889070266	0.61580	0.4934919468229852	0.49270	0.0857344890046	0.09686	0.48568713665	0.36841	T	0.031677	0.22152	T	-0.497759	0.00588	T	-0.484187	0.24001	T	0.00701008582061214	0.00080	T	0.70273	0.31245	T	0.07123138	0.15754	0.08226658	0.18761	0.07123138	0.15753	0.08226658	0.18761	-2.84	0.08557	T	0.11920611003650912	0.11079	0.066	0.02118	B	.;.;.	.;.;.	2.083715	0.26501	17.14	0.99432106821690125	0.64325	0.19902	0.20839	N	AEFDGBI	0.073473	0.14697	N	-0.755683203231675	0.14479	0.721603	-0.678401508677739	0.17501	0.9308807	0.99999398740372	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.25	2.21	0.27042	1.819000	0.38660	3.631000	0.39316	0.618000	0.50648	0.564000	0.27457	0.992000	0.31684	0.871000	0.41478	0.0893:0.2784:0.6322:0.0	9.149	0.36115	900	0.24599	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	948.98	34	chr1	201313277	.	G	A	948.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.027;DP=786;ExcessHet=0.0000;FS=0.810;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=1.13;SOR=0.732	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1139	20	0	1	0
chr1	201313464	201313464	G	A	exonic	PKP1	.	nonsynonymous SNV	PKP1:NM_000299:exon3:c.G605A:p.R202H	Ectodermal dysplasia/skin fragility syndrome	.	0	1508	14	0	0	14	0.00462046	.	.	278408	Epidermolysis_bullosa_simplex_due_to_plakophilin_deficiency|not_provided	MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536,Orphanet:158668|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.179	B	0.018	B	0.151	N	0.626	D	1.355	L	-0.81	T	-0.755	T	0.177	T	0.244	2.150	13.15	1.19	0.155	0.663	7.749	0.056	0.0737592663656	0.0018	0.00119808	0.0022	0.0005	0.0011	0	0	0.0036	0.0016	0.0005	0.0018758	290	154602	rs78314242	0.0030	0.0030	0.0030	0.0029	0.0047	0.0029	0.0029	0.0034	0.0034	0.0005	0.0013	0.0048	0	0.0004	0.0047	0.0035	0.0022	0.0005	0.0019	0.0019	0.0021	0.0017	0.0030	0.0017	0.0016	0.0026	0.0025	0.0005	0	0.0022	0.0078	0	0	0	0.0030	0.0024	0.0006	0.163	0.23997	T	0.103	0.38305	T	0.045	0.28995	B	0.01	0.18489	B	0.151281	0.17960	N	0.519112	0.625857	0.32746	D	0.895	0.22405	L	-0.92	0.75108	T	-1.61	0.38734	N	0.34	0.38129	-0.7552	0.57662	T	0.177	0.52193	T	10	0.0055202544	0.00122	T	0.073759	0.71871	D	0.056	0.15993	.	.	0.640407670995	0.63744	0.3678928276403831	0.36703	0.1114848603	0.12590	0.267176926136	0.05775	T	0.072999	0.34592	T	-0.417963	0.01763	T	-0.376202	0.36166	T	0.0093331647258339	0.00119	T	0.761924	0.38711	T	0.037512086	0.04824	0.037671603	0.03469	0.03506509	0.04056	0.034654014	0.02571	-4.927	0.36037	T	0.3265699473747604	0.42471	0.184	0.39915	B	.;.;.	.;.;.	2.449247	0.31538	18.77	0.99192945969314461	0.55024	0.25842	0.22819	N	AEFDBI	0.103636	0.20757	N	-0.591549236136514	0.19200	1.00301	-0.570576286407346	0.20262	1.090831	0.999956616886111	0.48110	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	4.13	1.19	0.20120	0.696000	0.25220	0.449000	0.18503	0.618000	0.50648	0.075000	0.22209	0.058000	0.21979	0.986000	0.61781	0.3312:0.0:0.6688:0.0	7.749	0.28051	900	0.24599	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1365.98	34	chr1	201313464	.	G	A	1365.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.590e+00;DP=807;ExcessHet=0.0000;FS=2.433;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.31;ReadPosRankSum=1.72;SOR=0.885	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1139	20	0	1	0
chr1	201386508	201386508	T	C	exonic	LAD1	.	nonsynonymous SNV	LAD1:NM_005558:exon3:c.A853G:p.T285A,	.	.	416	1091	15	0	0	15	0.00682749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.024	N	1.000	N	-1.39	N	2.87	T	-0.939	T	0.007	T	0.032	-0.684	1.024	-1.09	0.285	-0.221	3.288	0.019	0.00215725915153	.	0.000998403	0.0034	0.0003	0.0019	0	0.0002	0.0055	0.0050	0.0004	0.0030595	473	154602	rs199579589	0.0031	0.0031	0.0030	0.0031	0.0068	0.0030	0.0030	0.0051	0.0045	0.0005	0.0029	0.0018	2.529e-05	0.0002	0.0068	0.0036	0.0029	0.0007	0.0027	0.0027	0.0029	0.0024	0.0046	0.0025	0.0024	0.0041	0.0040	0.0005	0	0.0041	0.0017	0	0.0003	0.0068	0.0046	0.0019	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.001	0.04355	B	0.023539	0.01594	N	2.147060	1	0.08975	N	-0.49	0.02651	N	2.87	0.10386	T	0.31	0.04022	N	0.047	0.01911	-0.9386	0.42837	T	0.007	0.02558	T	10	0.0033936203	0.00059	T	0.002157	0.04043	T	0.019	0.03383	.	.	0.0138822411134	0.00435	0.06471795420376389	0.06410	0.101017976049	0.11413	0.271386504173	0.06323	T	0.030787	0.21738	T	-0.766274	0.00014	T	-0.872109	0.00723	T	0.000960221312585339	0.00009	T	0.336666	0.07200	T	0.014417047	0.00092	0.017198384	0.00027	0.014417047	0.00092	0.017198384	0.00027	-2.898	0.09123	T	.	.	0.059	0.00754	B	.;.	.;.	-0.565584	0.01668	0.119	0.17251376477950772	0.00495	0.00580	0.02616	N	AEFBCI	0.030474	0.03075	N	-1.58242822399693	0.01355	0.05902909	-1.49155796214791	0.02413	0.1109366	0.999631973349128	0.41205	0.732398	0.92422	0	0.626922	0.53725	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	5.47	-1.09	0.09397	-0.913000	0.04150	-1.896000	0.04535	-1.048000	0.01648	0.000000	0.06391	0.000000	0.08366	0.041000	0.14368	0.2428:0.3668:0.0:0.3904	3.288	0.06532	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1181.11	33	chr1	201386508	.	T	C	1181.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.619;DP=1049;ExcessHet=0.1072;FS=5.365;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.09;ReadPosRankSum=1.37;SOR=0.370	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1250	19	0	2	0
chr1	201386873	201386876	CCCA	0	exonic	LAD1	.	.	.	.	.	409	980	89	5	39	138	0.0480816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3927.24	33	chr1	201386873	.	CCCA	C,*	3927.24	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=0.458;DP=1036;ExcessHet=0.3300;FS=1.817;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=12.08;ReadPosRankSum=1.49;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0,0:36:99:.:.:0,102,1250,102,1250,1250	18	0	2	0
chr1	201386876	201386878	ACC	0	exonic	LAD1	.	.	.	.	.	410	979	40	2	91	135	0.021978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1948.11	33	chr1	201386876	.	ACC	A,*	1948.11	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=0.832;DP=1037;ExcessHet=0.3300;FS=1.817;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=5.99;ReadPosRankSum=0.785;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0,0:36:99:.:.:0,102,1250,102,1250,1250	18	0	1	0
chr1	201387170	201387170	C	T	exonic	LAD1	.	nonsynonymous SNV	LAD1:NM_005558:exon3:c.G191A:p.S64N,	.	.	416	1094	12	0	0	12	0.00545455	.	.	696381	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.14	T	0.999	D	0.996	D	0.001	N	0.908	D	2.075	M	2.33	T	-0.895	T	0.106	T	0.12	2.607	14.68	4.91	2.254	1.546	13.593	0.126	0.010655477065	0.0011	0.00199681	0.0019	0	0.0013	0	0.0002	0.0024	0.0013	0.0042	0.0018111	280	154602	rs143280381	0.0013	0.0013	0.0012	0.0014	0.0095	0.0012	0.0012	0.0074	0.0066	0.0002	0.0016	0.0135	0	0.0002	0.0095	0.0009	0.0022	0.0030	0.0012	0.0012	0.0012	0.0013	0.0033	0.0011	0.0010	0.0021	0.0017	0.0002	0	0.0005	0.0153	0	0.0002	0	0.0015	0.0009	0.0033	0.0	0.91255	D	0.031	0.70582	D	0.999	0.77913	D	0.982	0.84481	D	0.001107	0.40219	N	0.235599	0.908114	0.36340	D	2.54	0.74080	M	2.33	0.16794	T	-2.2	0.50337	N	0.325	0.36569	-0.8954	0.48446	T	0.106	0.38587	T	10	0.006062001	0.00136	T	0.010655	0.27430	T	0.126	0.34673	.	.	0.104622674875	0.10061	0.039214810868750394	0.03867	0.497447347806	0.48245	0.466643422842	0.34221	T	0.208963	0.56904	T	-0.527928	0.00395	T	-0.531389	0.19147	T	0.135137468576431	0.15849	T	0.740126	0.37414	T	0.27455127	0.50520	0.28137487	0.54119	0.27455127	0.50520	0.28137487	0.54118	-6.291	0.48650	T	.	.	0.273	0.63329	B	.;.;.;.;.	.;.;.;.;.	2.640700	0.34361	19.61	0.99229407829368932	0.56183	0.34538	0.25091	N	AEFDBI	0.158150	0.28376	N	0.171522803344348	0.49836	3.179601	0.00945469408973119	0.40153	2.391793	0.999999912274535	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	4.91	4.91	0.63897	3.074000	0.49763	2.128000	0.30762	0.545000	0.25583	0.417000	0.26305	0.944000	0.28851	0.031000	0.13245	0.0:1.0:0.0:0.0	13.593	0.61435	934	0.15400	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	865.98	33	chr1	201387170	.	C	T	865.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.487;DP=840;ExcessHet=0.0000;FS=2.940;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=-4.790e-01;SOR=0.530	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1250	20	0	1	0
chr1	201488943	201488943	T	A	exonic	CSRP1	.	nonsynonymous SNV	CSRP1:NM_001193570:exon4:c.A323T:p.K108I	.	.	434	1061	27	0	0	27	0.012564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.973	D	0.895	P	0.000	D	1.000	D	2.275	M	0.75	T	-0.825	T	0.105	T	0.625	4.313	22.6	5.53	2.086	5.959	10.379	0.137	.	0.0012	0.0105831	0.0076	0.0007	0.0009	0.0296	0.0029	0.0019	0.0044	0.0297	0.0068498	1059	154602	rs3738283	0.0052	0.0052	0.0043	0.0061	0.0465	0.0051	0.0050	0.0447	0.0440	0.0005	0.0009	0.0016	0.0465	0.0017	0.0031	0.0023	0.0046	0.0312	0.0032	0.0033	0.0027	0.0038	0.0286	0.0030	0.0029	0.0247	0.0233	0.0005	0.0044	0.0007	0.0003	0.0263	0.0025	0	0.0022	0.0028	0.0286	0.052	0.43085	T	0.083	0.44702	T	0.068	0.23728	B	0.04	0.23831	B	0.000000	0.84330	D	0.044457	0.999993	0.58761	D	3.12	0.87914	M	0.75	0.50192	T	-2.26	0.59545	N	0.472	0.60579	-0.8250	0.53619	T	0.105	0.38390	T	10	0.0058401525	0.00130	T	.	.	.	0.137	0.36984	.	.	0.70693104076	0.70437	0.49026484260685355	0.48946	0.451572985527	0.44902	0.613706946373	0.54839	T	0.282317	0.65505	T	-0.315689	0.07257	T	-0.175191	0.56968	T	0.063099928941028	0.07647	T	0.975702	0.91674	D	0.29719242	0.52651	0.1889332	0.42211	0.29719242	0.52651	0.1889332	0.42210	-12.666	0.87941	D	.	.	0.721	0.73821	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.867239	0.79709	27.2	0.99486396034677693	0.67180	0.82777	0.41959	D	AEFBCI	0.892651	0.82980	D	0.298869076774726	0.56092	3.773414	0.39157591504516	0.61043	4.299257	0.999999999904671	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.53	5.53	0.82530	5.935000	0.69862	6.100000	0.53542	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0824:0.0:0.9176	10.379	0.43284	927	0.17636	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	4435.68	34	chr1	201488943	.	T	A	4435.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.576e+00;DP=972;ExcessHet=0.3300;FS=7.525;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=0.228;SOR=0.432	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	3	0
chr1	201809175	201809175	A	G	exonic	NAV1	.	nonsynonymous SNV	NAV1:NM_001167738:exon18:c.A3037G:p.M1013V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.004	B	0.003	B	0.003	N	0.960	D	0.205	N	3.34	T	-0.951	T	0.013	T	0.827	1.031	9.210	5.39	2.045	4.107	15.082	0.142	0.0056310173081	.	.	4.942e-05	0	0.0005	0	0	0	0	0	3.88e-05	6	154602	rs747443259	1.163e-05	1.163e-05	8.169e-06	1.513e-05	0.0003	7.09e-06	5.79e-06	0.0001	9.194e-05	0	0.0002	0	0	0	0.0003	4.497e-06	0	0	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.418	0.09896	T	0.591	0.08189	T	0.004	0.12183	B	0.003	0.08700	B	0.002582	0.36278	N	0.305245	0.888125	0.38150	D	0	0.06538	N	3.34	0.06063	T	-0.64	0.22078	N	0.674	0.68169	-0.9509	0.40816	T	0.013	0.05177	T	10	0.26070324	0.43522	T	0.005631	0.14560	T	0.142	0.37995	.	.	0.763179157214	0.76102	0.29321314121344794	0.29234	0.373155265943	0.38788	0.655606746674	0.60782	T	0.032206	0.22383	T	-0.183049	0.23284	T	-0.203154	0.54347	T	0.0632180253661476	0.07666	T	0.790621	0.43364	T	0.10560951	0.24970	0.0978594	0.23311	0.10560951	0.24970	0.0978594	0.23310	-3.019	0.11342	T	.	.	0.096	0.34949	B	.;.;.	.;.;.	3.451954	0.48069	22.6	0.84821331798566346	0.15518	0.96447	0.69184	D	AEFDBI	0.461902	0.51147	N	-0.176364924417373	0.34121	1.943754	0.0491273068236125	0.42030	2.535142	0.957341197313647	0.28298	0.706548	0.73137	0	0.610034	0.51514	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.39	5.39	0.77615	4.117000	0.57623	10.997000	0.84734	0.741000	0.86335	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	1.0:0.0:0.0:0.0	15.082	0.71794	294	0.88270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	906.98	38	chr1	201809175	.	A	G	906.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.770e-01;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.19;ReadPosRankSum=0.197;SOR=0.626	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr1	201809242	201809242	C	T	exonic	NAV1	.	nonsynonymous SNV	NAV1:NM_001167738:exon18:c.C3104T:p.P1035L	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.997	D	0.786	P	0.002	N	1.000	D	0.895	L	3.33	T	-1.128	T	0.028	T	0.57	3.890	19.77	4.63	2.610	2.918	14.497	0.135	0.0119378636807	0.0006	0.000998403	0.0008	0.0002	0.0005	0.0060	0	0.0003	0	0.0005	0.0006921	107	154602	rs147713533	0.0005	0.0005	0.0005	0.0005	0.0053	0.0005	0.0005	0.0047	0.0045	0.0001	0.0004	0	0.0053	0	0.0002	0.0004	0.0006	0.0006	0.0005	0.0005	0.0004	0.0005	0.0066	0.0004	0.0004	0.0048	0.0042	0.0002	0	0.0005	0	0.0066	0	0	0.0003	0	0	0.077	0.34095	T	0.166	0.33109	T	0.997	0.70673	D	0.786	0.57542	P	0.002484	0.36462	N	0.278041	0.999997	0.58761	D	0.895	0.22405	L	3.33	0.06214	T	-2.63	0.58085	D	0.564	0.70088	-1.1282	0.01870	T	0.028	0.12103	T	10	0.009759963	0.00219	T	0.011938	0.30057	T	0.135	0.36572	.	.	0.0675242888579	0.06100	0.35368504481907104	0.35282	0.943198426056	0.72291	0.648363411427	0.59754	T	0.233593	0.60043	T	-0.449678	0.01134	T	-0.41358	0.31813	T	0.0561941900119145	0.06555	T	0.943706	0.78720	D	0.06615743	0.14208	0.08250424	0.18834	0.06615743	0.14207	0.08250424	0.18834	-10.172	0.75289	D	.	.	0.334	0.55473	B	.;.;.	.;.;.	4.237740	0.64219	24.7	0.99699284209507522	0.80522	0.95975	0.66970	D	AEFDBI	0.289078	0.40082	N	0.391095728503833	0.60940	4.288605	0.423087776549402	0.63008	4.526142	0.96295527945451	0.28658	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.56	4.63	0.57175	2.961000	0.48861	7.496000	0.59428	0.589000	0.31548	0.772000	0.29380	1.000000	0.68203	0.662000	0.33024	0.0:0.9272:0.0:0.0728	14.497	0.67276	294	0.88270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2000.98	38	chr1	201809242	.	C	T	2000.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.820;DP=837;ExcessHet=0.0000;FS=1.659;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.71;ReadPosRankSum=0.975;SOR=0.487	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr1	201900256	201900256	C	T	exonic	LMOD1	.	nonsynonymous SNV	LMOD1:NM_012134:exon2:c.G757A:p.E253K,	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.007	B	0.004	B	0.674	N	1.000	N	0.46	N	-3.44	D	-0.440	T	0.597	D	0.263	1.272	10.15	1.81	0.172	-0.057	7.219	0.162	0.0319286309268	.	.	0.0001	0	0	0	0	0	0	0.0009	9.06e-05	14	154602	rs776995438	6.911e-05	6.909e-05	2.995e-05	0.0001	0.0011	5.781e-05	5.393e-05	0.0009	0.0008	0	0	0	0	0	0.0003	3.598e-06	1.657e-05	0.0011	6.576e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.157	0.23997	T	0.237	0.24621	T	0.007	0.14184	B	0.004	0.10090	B	0.674306	0.10314	N	0.784649	0.999998	0.08975	N	1.265	0.31966	L	-3.44	0.94428	D	-0.49	0.15578	N	0.128	0.12198	-0.4397	0.70740	T	0.597	0.85631	D	10	0.022045463	0.00541	T	0.031929	0.53888	D	0.162	0.41843	0.364	0.37036	0.275349458131	0.27150	0.08557385539361706	0.08491	0.301679839103	0.32499	0.24973320961	0.03739	T	0.130665	0.45970	T	-0.263066	0.12543	T	-0.209844	0.53710	T	0.013482335023582	0.00246	T	0.610139	0.23115	T	0.08654237	0.20120	0.059432644	0.11153	0.10633108	0.25143	0.07309702	0.15845	-7.424	0.57073	T	.	.	0.079	0.07083	B	.	.	0.934296	0.13095	9.599	0.92570493228124262	0.22025	0.41503	0.26671	N	AEFBHCI	.	.	.	-1.064900607897	0.07298	0.3386133	-1.0819207976083	0.08057	0.3944804	0.999930621799878	0.46732	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	3.85	1.81	0.24139	0.154000	0.16160	0.255000	0.16475	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.7242:0.1716:0.1042	7.219	0.25153	649	0.63102	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3523.98	187	chr1	201900256	.	C	T	3523.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.805e+00;DP=1814;ExcessHet=0.0000;FS=0.895;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=2.24;SOR=0.765	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1463	20	0	1	0
chr1	201900333	201900333	C	T	exonic	LMOD1	.	nonsynonymous SNV	LMOD1:NM_012134:exon2:c.G680A:p.R227H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.909	P	0.153	B	0.440	N	1.000	N	0.345	N	1.94	T	-1.073	T	0.027	T	0.106	1.910	12.34	4.32	1.312	-1.238	12.320	0.084	0.0117420360377	0.0002	0.000998403	0.0009	0.0004	0.0009	0.0094	0	0.0003	0	0.0005	0.0004463	69	154602	rs199655500	0.0004	0.0004	0.0004	0.0004	0.0044	0.0003	0.0003	0.0039	0.0037	0.0002	0.0004	0	0.0044	0	0	0.0002	0.0002	0.0006	0.0004	0.0004	0.0003	0.0004	0.0056	0.0003	0.0003	0.0040	0.0035	0.0001	0	0.0007	0	0.0056	0	0	0.0001	0	0.0002	0.127	0.27080	T	0.087	0.40747	T	0.909	0.50183	P	0.099	0.30579	B	0.439816	0.12641	N	0.643235	1	0.08975	N	0.695	0.17993	N	1.94	0.22678	T	-0.75	0.21003	N	0.102	0.08506	-1.0735	0.08660	T	0.027	0.11441	T	10	0.003744036	0.00070	T	0.011742	0.29664	T	0.084	0.24469	.	.	0.117191471859	0.11215	0.05417184813314211	0.05359	0.402808575065	0.41226	0.187256500125	0.00180	T	0.116509	0.43590	T	-0.642318	0.00081	T	-0.69281	0.06227	T	0.0140854081564883	0.00274	T	0.422958	0.11265	T	0.03047055	0.02717	0.03037121	0.01484	0.03047055	0.02717	0.03037121	0.01483	-5.456	0.41455	T	.	.	0.080	0.07554	B	.	.	1.049311	0.14305	10.88	0.91344356026161777	0.20607	0.39358	0.26195	N	AEFBHCI	.	.	.	-0.549793953214951	0.20489	1.080532	-0.603283825565957	0.19408	1.041159	0.999998240174203	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	5.25	4.32	0.50899	-0.229000	0.09106	-2.423000	0.03773	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.9156:0.0:0.0844	12.320	0.54300	649	0.63102	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3375.98	187	chr1	201900333	.	C	T	3375.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.350e-01;DP=1801;ExcessHet=0.0000;FS=2.032;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=0.815;SOR=0.572	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1463	20	0	1	0
chr1	201983063	201983063	G	T	exonic	RNPEP	.	nonsynonymous SNV	RNPEP:NM_020216:exon1:c.G397T:p.A133S,	.	.	.	.	.	.	.	.	.	.	.	2194515	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.19	T	0.001	B	0.007	B	0.018	N	0.999	N	0	N	3.75	T	-0.945	T	0.007	T	0.103	2.475	14.24	0.454	0.194	1.069	4.050	0.016	0.0131697579586	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1281876553	8.011e-06	1.915e-05	7.207e-06	8.833e-06	0.0002	4.3e-06	3.14e-06	2.71e-06	1.74e-06	0	0	0	0	2.32e-05	0.0002	6.518e-06	1.761e-05	1.302e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29688	T	0.466	0.17750	T	0.001	0.07471	B	0.007	0.12992	B	0.018086	0.27565	N	0.331261	0.999381	0.21275	N	-0.55	0.02420	N	3.75	0.03922	T	-0.01	0.07155	N	0.039	0.01999	-0.9445	0.41895	T	0.007	0.02282	T	10	0.0611988	0.07635	T	0.01317	0.32362	T	0.016	0.02506	0.389	0.41115	0.222439326576	0.21863	0.306574377233197	0.30570	0.140086197031	0.15791	0.529822349548	0.43009	T	0.049765	0.28402	T	-0.321733	0.06756	T	-0.699924	0.05831	T	0.0620427113714354	0.07487	T	0.521348	0.16985	T	0.061722446	0.12815	0.069999345	0.14820	0.061722446	0.12814	0.069999345	0.14820	-3.894	0.22212	T	.	.	0.073	0.05935	B	.;.	.;.	1.463098	0.18861	13.96	0.97088810167198869	0.32315	0.37082	0.25680	N	ALL	0.167832	0.29454	N	-0.850022417469157	0.12048	0.5850068	-0.799767306504595	0.14501	0.7579927	0.999999999996167	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.581474	0.35302	0	.	.	3.81	0.454	0.15857	0.397000	0.20608	1.408000	0.26256	-0.171000	0.11205	0.000000	0.06391	0.254000	0.23938	0.955000	0.50612	0.1876:0.0:0.4605:0.3519	4.050	0.09270	740	0.53092	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	219.98	27	chr1	201983063	.	G	T	219.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.600e-02;DP=608;ExcessHet=0.0000;FS=1.393;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.87;ReadPosRankSum=1.29;SOR=1.022	GT:AD:DP:GQ:PL	0/0:24,0:24:72:0,72,737	20	0	1	0
chr1	202005651	202005651	G	A	exonic	RNPEP	.	nonsynonymous SNV	RNPEP:NM_001319183:exon10:c.G1018A:p.A340T	.	.	425	1087	9	1	0	11	0.00503432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.003	B	0.015	B	0.000	D	1.000	N	1.39	L	0.96	T	-1.014	T	0.082	T	0.258	0.945	8.854	3.71	1.359	1.769	6.752	0.062	0.0151638626629	0.0010	0.000599042	0.0014	0	0.0003	0	0	0.0018	0.0022	0.0028	0.0013325	206	154602	rs148685424	0.0012	0.0012	0.0011	0.0013	0.0059	0.0012	0.0011	0.0043	0.0038	5.974e-05	0.0004	0.0194	0	3.744e-05	0.0059	0.0007	0.0025	0.0028	0.0009	0.0009	0.0010	0.0009	0.0017	0.0008	0.0008	0.0008	0.0006	0.0001	0	0.0005	0.0190	0	0	0.0068	0.0008	0.0014	0.0017	0.088	0.32296	T	0.45	0.12957	T	0.001	0.07471	B	0.009	0.14300	B	0.000232	0.47286	D	0.139670	1	0.08975	N	2.52	0.73523	M	0.96	0.42888	T	-1.16	0.29727	N	0.101	0.09914	-1.0136	0.25784	T	0.082	0.32353	T	10	0.0040664375	0.00079	T	0.015164	0.35730	T	0.062	0.17934	.	.	0.388334884743	0.38444	0.39205197309591555	0.39120	0.15456095678	0.17459	0.379396140575	0.22171	T	0.159875	0.50350	T	-0.492285	0.00631	T	-0.484837	0.23933	T	0.0420156570279284	0.04057	T	0.70043	0.31009	T	0.389314	0.59983	0.33222032	0.59073	0.389314	0.59983	0.33222032	0.59072	-3.54	0.16996	T	.	.	0.088	0.24633	B	.;.	.;.	2.196487	0.28013	17.65	0.94565608790041678	0.25095	0.63475	0.32101	D	AEFBI	0.355831	0.44742	N	-0.609689726749758	0.18653	0.9700976	-0.548791100628141	0.20838	1.124541	0.999945206986357	0.47345	0.722319	0.85440	0	0.724815	0.89359	0	0.696144	0.63334	0	0.735409	0.98432	0	.	.	5.6	3.71	0.41733	1.827000	0.38740	0.414000	0.18144	-0.667000	0.04321	0.731000	0.28933	0.001000	0.17328	0.045000	0.14751	0.1531:0.0:0.7061:0.1409	6.752	0.22679	809	0.43032	Peptidase M1, leukotriene A4 hydrolase/aminopeptidase C-terminal|Peptidase M1, leukotriene A4 hydrolase/aminopeptidase C-terminal;Peptidase M1, leukotriene A4 hydrolase/aminopeptidase C-terminal|Peptidase M1, leukotriene A4 hydrolase/aminopeptidase C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	913.98	34	chr1	202005651	.	G	A	913.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.100e+00;DP=808;ExcessHet=0.0000;FS=0.840;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=-1.936e+00;SOR=0.540	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr1	202012720	202012720	G	A	exonic	ELF3	.	nonsynonymous SNV	ELF3:NM_001114309:exon5:c.G559A:p.G187R	.	.	417	1094	10	1	0	12	0.00545455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.06	B	0.029	B	0.013	U	1.000	N	1.32	L	2.36	T	-1.022	T	0.144	T	0.491	0.492	6.668	3.04	0.474	2.006	8.505	0.105	0.0173454211129	0.0003	.	0.0004	0	0.0003	0	0	0.0003	0	0.0016	0.0003234	50	154602	rs151290080	0.0003	0.0003	0.0002	0.0004	0.0105	0.0003	0.0003	0.0084	0.0076	0	0.0001	0	2.526e-05	1.948e-05	0.0105	0.0002	0.0004	0.0015	0.0002	0.0002	0.0002	0.0002	0.0015	0.0001	0.0001	0.0007	0.0005	0	0	0	0	0	0	0.0068	0.0003	0	0.0015	0.23	0.38863	T	0.562	0.34716	T	0.06	0.23119	B	0.029	0.21540	B	0.013109	0.01355	U	7.741050	1	0.08975	N	1.67	0.42885	L	2.36	0.53731	T	-1.43	0.35194	N	0.301	0.34012	-1.0219	0.23096	T	0.144	0.46714	T	10	0.019317776	0.00430	T	0.017345	0.39013	T	0.105	0.29889	0.265	0.21103	0.64617586229	0.64324	0.3514196407946845	0.35055	0.368701807779	0.38416	0.521216154099	0.41797	T	0.207525	0.56719	T	-0.367904	0.03701	T	-0.325873	0.41928	T	0.0167001427708858	0.00428	T	0.677732	0.28664	T	0.06325544	0.13300	0.08212194	0.18719	0.06325544	0.13300	0.08212194	0.18719	-3.74	0.19910	T	.	.	0.149	0.32969	B	.;.;.;.	.;.;.;.	2.674151	0.34869	19.75	0.87657972777412774	0.17386	0.44406	0.27311	N	AEFDGBCI	0.229100	0.35268	N	-0.684345782597569	0.16468	0.8392727	-0.677264178078325	0.17530	0.9325245	0.999999959042215	0.74766	0.650006	0.45971	0	0.624306	0.53593	0	0.606735	0.37207	0	0.542086	0.14980	0	.	.	4.91	3.04	0.34171	3.547000	0.53416	4.102000	0.41870	0.676000	0.76740	0.812000	0.29879	1.000000	0.68203	0.213000	0.22268	0.1791:0.0:0.8209:0.0	8.505	0.32344	814	0.42100	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1053.98	35	chr1	202012720	.	G	A	1053.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.490;DP=808;ExcessHet=0.0000;FS=4.383;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=0.695;SOR=0.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1248	20	0	1	0
chr1	202148682	202148682	G	A	exonic	PTPN7	.	nonsynonymous SNV	PTPN7:NM_001364878:exon9:c.C1007T:p.T336M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.13	M	2.18	T	-0.618	T	0.189	T	0.939	4.355	22.9	5.15	2.392	8.926	16.401	0.667	0.300605116737	.	.	1.679e-05	0	8.761e-05	0	0	0	0	6.142e-05	1.29e-05	2	154602	rs781093850	1.574e-05	1.642e-05	1.362e-05	1.788e-05	0.0002	1.048e-05	8.75e-06	1.012e-05	8.35e-06	0	2.238e-05	0	2.52e-05	0	0.0002	1.619e-05	0	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.034	0.56192	D	1.0	0.90584	D	0.998	0.88582	D	0.000022	0.55875	D	0.000000	0.999899	0.58761	D	.	.	.	2.18	0.18875	T	-5.52	0.85994	D	0.844	0.86191	-0.6181	0.64067	T	0.189	0.54079	T	10	0.87545156	0.86832	D	0.300605	0.90869	D	0.667	0.87625	.	.	0.561027722634	0.55763	0.617582545577373	0.61690	0.679948637296	0.59958	0.770737707615	0.77535	T	0.682228	0.90681	D	0.199236	0.73821	D	0.156069	0.80564	D	0.97398042678833	0.70320	D	0.987701	0.95793	D	.	.	.	.	.	.	.	.	-10.879	0.80002	D	.	.	0.478	0.66996	A	.;.;.	.;.;.	5.500409	0.91581	32	0.99902441421915555	0.97426	0.97180	0.73161	D	AEFBHCI	0.916947	0.88386	D	0.9226995864736	0.92826	11.65263	0.850582954148592	0.93051	11.793	0.999999999571609	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.15	5.15	0.70287	9.043000	0.93270	11.720000	0.94800	0.668000	0.69082	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	16.401	0.83478	834	0.38640	PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase|Tyrosine specific protein phosphatases domain|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic;.;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase|Tyrosine specific protein phosphatases domain|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	871.98	34	chr1	202148682	.	G	A	871.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.978;DP=793;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.38;ReadPosRankSum=1.66;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1329	20	0	1	0
chr1	202276481	202276481	C	T	exonic	LGR6	.	nonsynonymous SNV	LGR6:NM_001017403:exon5:c.C604T:p.P202S	.	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.996	D	0.000	D	1.000	D	1.96	M	3.17	T	-0.828	T	0.141	T	0.772	4.806	27.2	4.94	2.563	7.608	18.351	0.371	.	.	0.00359425	0.0020	0	0	0.0073	0	1.542e-05	0.0034	0.0107	0.0017141	265	154602	rs117583891	0.0007	0.0007	0.0005	0.0009	0.0083	0.0007	0.0007	0.0078	0.0076	2.987e-05	2.236e-05	0	0.0049	0	0.0003	1.978e-05	0.0017	0.0083	0.0006	0.0006	0.0004	0.0008	0.0120	0.0005	0.0005	0.0095	0.0086	0	0	0	0	0.0073	0	0	1.47e-05	0.0005	0.0120	0.049	0.50676	D	0.005	0.72224	D	1.0	0.90584	D	0.991	0.84481	D	0.000000	0.84330	D	0.000000	0.999992	0.81001	D	0.78	0.19475	N	3.17	0.28836	T	-5.91	0.94872	D	0.891	0.89020	-0.8280	0.53429	T	0.141	0.46202	T	10	0.0098432	0.00221	T	.	.	.	0.371	0.69016	.	.	0.823451469078	0.82178	0.5850216369116384	0.58432	0.935321400836	0.71996	0.542400956154	0.44785	T	0.388735	0.74934	T	-0.260751	0.12812	T	-0.141637	0.59976	T	0.0827109206926544	0.10331	T	0.986951	0.95536	D	0.49698937	0.66917	0.5578874	0.74425	0.49698937	0.66918	0.5578874	0.74426	-12.215	0.85882	D	.	.	0.157	0.65123	B	.;.;.	.;.;.	4.716105	0.75812	26.4	0.9992393014682418	0.98917	0.97692	0.76450	D	AEFDGBI	0.922086	0.89653	D	0.762335482532597	0.83705	8.088063	0.732762882244252	0.84865	8.412892	0.999999999999948	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.94	4.94	0.64645	7.887000	0.85804	5.913000	0.51050	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:1.0:0.0:0.0	18.351	0.90281	536	0.73233	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1030.98	34	chr1	202276481	.	C	T	1030.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.94;DP=793;ExcessHet=0.0000;FS=7.703;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=1.25;SOR=0.247	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr1	202746142	202746142	C	T	exonic	KDM5B	.	nonsynonymous SNV	KDM5B:NM_001347591:exon14:c.G2063A:p.R688Q	.	YES	429	1062	29	2	0	33	0.015299	0.9976	0.922	706998	not_provided|KDM5B-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.128	B	0.126	B	0.001	N	0.988	D	0.875	L	-2.49	D	-0.213	T	0.527	D	0.194	3.623	18.43	4.83	1.418	4.600	14.526	0.295	.	0.0008	0.00638978	0.0049	0.0002	0.0008	0	0.0091	0.0022	0.0056	0.0232	0.0043078	666	154602	rs144390145	0.0027	0.0027	0.0020	0.0033	0.0215	0.0026	0.0026	0.0206	0.0203	0.0002	0.0005	0.0079	5.048e-05	0.0084	0.0067	0.0010	0.0032	0.0215	0.0023	0.0023	0.0017	0.0030	0.0202	0.0021	0.0021	0.0169	0.0157	0.0001	0	0.0003	0.0063	0	0.0112	0	0.0015	0.0024	0.0202	0.037	0.43708	D	0.096	0.39340	T	0.128	0.27003	B	0.126	0.32692	B	0.000550	0.43413	N	0.267390	0.988208	0.40722	D	1.21	0.30464	L	-2.49	0.89145	D	-2.51	0.55181	D	0.088	0.07949	-0.2129	0.77338	T	0.527	0.82399	D	9	0.009380996	0.00212	T	.	.	.	0.295	0.61502	.	.	0.531679877283	0.52817	0.6327165268635838	0.63205	0.260510344994	0.28615	0.282812356949	0.07887	T	0.666658	0.90059	D	-0.333589	0.05844	T	-0.235698	0.51217	T	0.0268356139302734	0.01521	T	0.932307	0.75281	D	0.36550337	0.58251	0.24510102	0.49990	0.36327216	0.58084	0.28385857	0.54380	-7.829	0.59961	D	.	.	0.075	0.13221	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.738439	0.76397	26.5	0.99913855060512347	0.98238	0.95538	0.65120	D	AEFBI	0.611386	0.59985	D	-0.0328743581839105	0.40371	2.396308	0.139999071701741	0.46615	2.90461	0.999564826310346	0.40425	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.73	4.83	0.61880	4.600000	0.60792	4.857000	0.45432	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.0:0.9299:0.0:0.0701	14.526	0.67474	451	0.79296	Zinc finger, C5HC2-type;.;.;.;.;.;.;.;Zinc finger, C5HC2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	751.98	61	chr1	202746142	.	C	T	751.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.205e+00;DP=1311;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.53;ReadPosRankSum=-2.220e-01;SOR=0.697	GT:AD:DP:GQ:PL	0/0:65,0:65:99:0,120,1800	20	0	1	0
chr1	203007553	203007553	C	T	exonic	TMEM183A	.	nonsynonymous SNV	TMEM183A:NM_001322955:exon1:c.C88T:p.H30Y	.	.	370	1146	6	0	0	6	0.00261097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.775	P	0.26	B	0.000	D	0.743	N	1.1	L	1.94	T	-1.063	T	0.042	T	0.295	3.191	16.68	5.34	2.496	1.614	12.807	0.039	0.0276143502092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.30235	T	0.137	0.33894	T	0.65	0.40644	P	0.134	0.33146	B	0.000393	0.44960	D	0.224693	0.74323	0.29713	N	1.61	0.41143	L	1.94	0.22678	T	-0.83	0.22727	N	0.348	0.38950	-1.0630	0.11021	T	0.042	0.18160	T	10	0.15943912	0.29957	T	0.027614	0.50408	D	0.039	0.10176	0.232	0.16005	0.043077524339	0.03247	0.13915312214276856	0.13838	0.827125518207	0.67455	0.792491734028	0.80822	T	0.007053	0.06470	T	-0.1577	0.27116	T	-0.464302	0.26132	T	0.917970359325409	0.57603	D	0.931307	0.74459	D	0.19378039	0.41102	0.25867394	0.51603	0.19378039	0.41102	0.25867394	0.51602	-3.997	0.23759	T	.	.	0.118	0.24192	B	.	.	3.288117	0.45079	22.1	0.98620983885288216	0.43771	0.77233	0.37951	D	ALL	0.354613	0.44663	N	0.175044126822749	0.50003	3.194633	0.289311736656459	0.54915	3.655199	0.999999999979867	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.34	5.34	0.75982	1.845000	0.38920	3.859000	0.40127	0.525000	0.24333	1.000000	0.71638	1.000000	0.68203	0.526000	0.29613	0.0:0.786:0.214:0.0	12.807	0.57003	753	0.51500	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1027.0	33	chr1	203007553	.	C	T	1027.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.980e-01;DP=742;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0259;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=-4.070e-01;SOR=0.737	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1081	20	0	1	0
chr1	203049733	203049733	C	T	exonic	PPFIA4	.	stopgain	PPFIA4:NM_001304331:exon13:c.C1477T:p.R493X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.068	U	1.000	D	.	.	.	.	.	.	.	.	.	3.344	17.26	4.67	2.419	2.479	12.656	.	.	.	.	3.169e-05	0	0	0.0002	0	0	0	0.0001	1.29e-05	2	154602	rs767596639	7.667e-06	9.577e-06	5.543e-06	9.817e-06	2.439e-05	4.11e-06	3.01e-06	4.05e-06	2.79e-06	0	0	0	0	0	0	8.198e-06	0	2.439e-05	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.067956	0.21706	U	0.221425	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.418	0.45803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0999489	0.64288	D	-0.0942068	0.63843	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Dominant;.	High;.	9.347047	0.98806	40	0.99771366348730284	0.85918	0.91220	0.53096	D	AEFDBI	0.215136	0.34052	N	0.0825186690553071	0.45650	2.817864	0.166245378547797	0.48010	3.022786	0.999987995918358	0.51787	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.67	4.67	0.58089	1.090000	0.30514	4.785000	0.44861	0.594000	0.32500	0.942000	0.32722	1.000000	0.68203	0.995000	0.73285	0.2076:0.7924:0.0:0.0	12.656	0.56149	804	0.43891	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1190.98	36	chr1	203049733	.	C	T	1190.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.10;DP=801;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.56;ReadPosRankSum=-3.070e-01;SOR=0.665	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1132	20	0	1	0
chr1	203056459	203056459	C	T	exonic	PPFIA4	.	nonsynonymous SNV	PPFIA4:NM_001304331:exon18:c.C2191T:p.R731W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.972	D	0.019	N	1.000	D	2.69	M	1.73	T	-0.742	T	0.178	T	0.441	4.270	22.3	4.78	2.489	2.331	14.502	0.188	0.0366883949688	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs549873910	5.473e-06	6.156e-06	5.445e-06	5.501e-06	2.237e-05	2.35e-06	1.7e-06	1.94e-06	1.28e-06	0	2.237e-05	0	0	0	0	5.396e-06	0	1.159e-05	1.97e-05	1.968e-05	2.57e-05	1.343e-05	0.0002	5.24e-06	2.45e-06	.	.	2.406e-05	0	0	0	0.0002	0	0	0	0	0.0002	0.0	0.91255	D	0.002	0.83351	D	0.998	0.73220	D	0.858	0.61127	P	0.018942	0.27366	N	0.172599	0.99983	0.49637	D	3.02	0.86243	M	1.73	0.26445	T	-6.5	0.91609	D	0.605	0.70088	-0.7418	0.58360	T	0.178	0.52287	T	10	0.38612157	0.54553	T	0.036688	0.57148	D	0.188	0.46444	.	.	0.574808824563	0.57149	0.684857891049249	0.68424	0.469305455686	0.46242	0.397463917732	0.24717	T	0.321278	0.77907	T	-0.10417	0.35733	T	-0.304544	0.44242	T	0.979580223560333	0.72907	D	0.983302	0.94707	D	0.5822565	0.71731	0.5012691	0.71168	0.5822565	0.71732	0.5012691	0.71168	-11.445	0.82043	D	.	.	0.097	0.25656	B	.;.;.;.;.	.;.;.;.;.	5.928937	0.94093	33	0.99929341220189927	0.99279	0.91851	0.54400	D	AEFDBCI	0.758487	0.69711	D	0.63687538898082	0.75524	6.320861	0.583547335814751	0.73760	6.023578	0.999999934606265	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.78	4.78	0.60666	2.486000	0.44917	5.895000	0.50812	0.528000	0.24546	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1469:0.853:0.0:0.0	14.502	0.67307	824	0.40336	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1697.98	35	chr1	203056459	.	C	T	1697.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.601;DP=905;ExcessHet=0.0000;FS=0.609;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=0.213;SOR=0.618	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1227	20	0	1	0
chr1	203175672	203175672	C	A	exonic	MYBPH	.	nonsynonymous SNV	MYBPH:NM_004997:exon1:c.G84T:p.E28D,	.	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.189	B	0.039	B	0.061	N	0.601	D	1.04	L	0.67	T	-0.929	T	0.082	T	0.223	1.996	12.63	4.18	2.434	1.009	5.772	0.042	0.0107436009783	.	.	0.0002	0	0	0	0	1.504e-05	0.0022	0.0011	0.0001358	21	154602	rs762057578	6.704e-05	6.704e-05	4.493e-05	8.939e-05	0.0009	5.629e-05	5.172e-05	0.0008	0.0007	0	0	0	2.519e-05	0	0	8.993e-06	0.0001	0.0009	4.597e-05	4.593e-05	1.285e-05	8.058e-05	0.0015	2.108e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.025	0.47320	D	0.126	0.35205	T	0.189	0.29346	B	0.039	0.23607	B	0.060502	0.22242	N	0.318034	0.601327	0.32541	D	1.975	0.53506	M	0.67	0.52187	T	-0.72	0.20358	N	0.28	0.33140	-0.9295	0.44212	T	0.082	0.32237	T	10	0.039389163	0.02426	T	0.010744	0.27620	T	0.042	0.11227	0.326	0.30873	0.73347288092	0.73110	0.34191233893776796	0.34104	0.194962813316	0.21832	0.310604304075	0.11999	T	0.025351	0.18971	T	-0.434367	0.01396	T	-0.447155	0.28011	T	0.0868415274719513	0.10839	T	0.549745	0.18930	T	0.16393377	0.36567	0.15523793	0.36397	0.16393377	0.36567	0.15523793	0.36396	-5.146	0.38388	T	.	.	0.095	0.14706	B	.;.	.;.	2.400682	0.30838	18.56	0.99488036299029337	0.67291	0.68804	0.33941	D	AEFDBCI	0.225234	0.34935	N	-0.183655300974085	0.33816	1.922787	-0.0655292926208874	0.36825	2.14812	0.999997401580645	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.2	4.18	0.48473	0.451000	0.21492	0.354000	0.17507	0.599000	0.40250	0.527000	0.27166	0.992000	0.31684	0.163000	0.20749	0.0:0.8319:0.0:0.1681	5.772	0.17525	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1632.98	33	chr1	203175672	.	C	A	1632.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.269e+00;DP=841;ExcessHet=0.0000;FS=1.390;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-8.600e-01;SOR=0.538	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1221	20	0	1	0
chr1	203223232	203223232	C	A	exonic	CHIT1	.	nonsynonymous SNV	CHIT1:NM_001256125:exon5:c.G451T:p.A151S	.	.	425	1095	2	0	0	2	0.000912409	.	.	279924	Chitotriosidase_deficiency	MedGen:C3279902,OMIM:614122	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.26	T	0.097	B	0.285	B	0.036	N	0.591	N	1.155	L	1.29	T	-0.983	T	0.059	T	0.262	0.913	8.715	2.65	0.990	4.008	7.842	0.036	0.017145532011	.	0.00199681	0.0007	0	0	0.0095	0	0	0	0.0002	0.0006339	98	154602	rs151004649	0.0004	0.0004	0.0004	0.0004	0.0146	0.0004	0.0004	0.0136	0.0132	0	0	0	0.0146	0	0	3.597e-06	0.0002	0.0002	0.0004	0.0004	0.0003	0.0005	0.0102	0.0003	0.0003	0.0080	0.0072	0	0	6.533e-05	0	0.0102	0	0	0	0	0.0010	0.208	0.19854	T	0.177	0.32040	T	0.097	0.25541	B	0.285	0.40506	B	0.035523	0.24632	N	0.279873	0.59063	0.31023	N	0.835	0.21042	L	1.29	0.35775	T	-1.72	0.40850	N	0.154	0.20395	-0.9831	0.34281	T	0.059	0.24575	T	10	0.0033851266	0.00059	T	0.017146	0.38730	T	0.036	0.09122	.	.	0.420939154896	0.41709	0.4104948860850389	0.40965	0.224371449795	0.24973	0.469472110271	0.34608	T	0.246519	0.61601	T	-0.503954	0.00543	T	-0.488852	0.23510	T	0.0749715595489156	0.09332	T	0.277372	0.08297	T	0.3089928	0.53699	0.15418449	0.36198	0.3089928	0.53699	0.15418449	0.36197	-6.195	0.48309	T	.	.	0.084	0.09772	B	.;.	.;.	2.483923	0.32036	18.92	0.96190254457615754	0.28988	0.90766	0.52220	D	AEFBI	0.283644	0.39670	N	-0.262561905302195	0.30605	1.708067	-0.20177382590587	0.31473	1.781471	0.998543758489956	0.37167	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.62	2.65	0.30588	3.324000	0.51734	1.180000	0.24688	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.395000	0.26670	0.1646:0.742:0.0:0.0934	7.842	0.28567	878	0.29785	Glycoside hydrolase family 18, catalytic domain|Chitinase II;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1195.98	42	chr1	203223232	.	C	A	1195.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.607e+00;DP=830;ExcessHet=0.0000;FS=0.712;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=1.19;SOR=0.604	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr1	203225047	203225047	C	A	splicing	CHIT1	NM_003465:exon4:c.314+1G>T	.	.	.	.	415	1106	1	0	0	1	0.000451875	1.0000	0.918	620713	not_provided|Chitotriosidase_deficiency	MedGen:C3661900|MedGen:C3279902,OMIM:614122	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.985	15.95	4.74	2.136	3.549	15.240	.	.	7.7e-05	.	0.0002	0	0.0003	0	0	0.0003	0	0	0.000194	30	154602	rs201510066	0.0001	0.0001	0.0001	0.0002	0.0016	0.0001	0.0001	0.0008	0.0006	0	0.0005	0.0001	0	0	0.0016	0.0001	0.0002	1.159e-05	0.0002	0.0002	0.0002	0.0003	0.0009	0.0002	0.0002	0.0006	0.0004	2.415e-05	0	0.0009	0	0	0	0.0032	0.0002	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181262	0.72158	D	0.328571	0.89450	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.201858	0.63414	24.6	0.99541087938014616	0.70523	0.98689	0.85611	D	AEFGBI	.	.	.	1.00049399455304	0.95759	13.93657	0.802915486676292	0.89994	10.21061	0.999999999997125	0.74766	0.06567	0.01388	0	0.085267	0.02369	0	0.063197	0.01477	0	0.075334	0.01956	0	0.963591	0.67260	4.74	4.74	0.59717	6.138000	0.71473	3.289000	0.37290	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.795000	0.37519	0.0:1.0:0.0:0.0	15.240	0.73152	878	0.29785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1374.98	36	chr1	203225047	.	C	A	1374.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.407;DP=824;ExcessHet=0.0000;FS=1.559;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.10;ReadPosRankSum=-3.500e-01;SOR=0.856	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1196	20	0	1	0
chr1	203229627	203229627	A	T	exonic	CHIT1	.	nonsynonymous SNV	CHIT1:NM_001256125:exon1:c.T10A:p.S4T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.062	B	0.062	B	0.315	N	1.000	N	0.715	N	3.51	T	-0.946	T	0.014	T	0.179	-0.447	1.925	0.212	0.317	-0.001	2.676	0.008	0.00198599384781	7.7e-05	.	8.502e-06	0	8.861e-05	0	0	0	0	0	6.5e-06	1	154602	rs145118297	5.473e-06	5.472e-06	6.806e-06	4.125e-06	6.708e-05	2.35e-06	1.7e-06	1.779e-05	8.93e-06	0	6.708e-05	7.653e-05	0	0	0	1.799e-06	1.656e-05	0	1.974e-05	1.971e-05	1.286e-05	2.695e-05	6.556e-05	5.25e-06	2.46e-06	8.01e-06	3e-06	4.835e-05	0	6.556e-05	0	0	0	0	0	0	0	0.125	0.45039	T	0.362	0.16865	T	0.019	0.17989	B	0.002	0.06944	B	0.315493	0.04041	N	1.609480	1	0.08975	N	1.24	0.30952	L	3.51	0.05847	T	-0.47	0.15178	N	0.184	0.19995	-0.9460	0.41648	T	0.014	0.05417	T	10	0.105682075	0.19546	T	0.001986	0.03562	T	0.008	0.00669	.	.	0.252681307341	0.24864	0.3557633417982046	0.35490	0.0842505692678	0.09510	0.410255253315	0.26491	T	0.208292	0.56818	T	-0.352297	0.04583	T	-0.660961	0.08201	T	0.0268602497841166	0.01525	T	0.343166	0.07474	T	0.036112312	0.04381	0.040909223	0.04529	0.036112312	0.04381	0.040909223	0.04529	-3.697	0.19481	T	.	.	0.075	0.06617	B	.;.	.;.	-0.152982	0.03340	0.587	0.31704998997086975	0.01800	0.02249	0.06516	N	AEFDBI	0.033364	0.03942	N	-1.02367635526443	0.08114	0.3793379	-1.08835883395043	0.07928	0.3876804	0.986803919430407	0.31129	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.25	0.212	0.14516	-0.004000	0.12813	0.938000	0.22831	-0.093000	0.16093	0.000000	0.06391	0.000000	0.08366	0.056000	0.15673	0.532:0.2639:0.204:0.0	2.676	0.04765	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2302.98	33	chr1	203229627	.	A	T	2302.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.600e-02;DP=928;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=-1.295e+00;SOR=0.719	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1322	20	0	1	0
chr1	203483425	203483425	C	T	exonic	PRELP	.	nonsynonymous SNV	PRELP:NM_002725:exon2:c.C241T:p.P81S	.	.	411	1110	1	0	0	1	0.000450248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.024	B	0.04	B	0.209	N	0.950	D	1.525	L	1.04	T	-1.069	T	0.077	T	0.072	1.065	9.348	0.564	-0.170	-0.011	6.399	0.033	0.010276648202	.	0.000199681	8.237e-05	0	0	0.0010	0	1.498e-05	0	0	3.84e-05	1	26028	rs150506217	3.831e-05	3.831e-05	3.948e-05	3.713e-05	0.0012	3.025e-05	2.719e-05	0.0009	0.0008	0	0	0	0.0012	0	0.0002	6.295e-06	3.312e-05	0	1.97e-05	1.968e-05	1.285e-05	2.686e-05	0.0004	5.24e-06	2.45e-06	6.85e-05	2.865e-05	0	0	0	0	0.0004	0	0	1.47e-05	0	0	0.073	0.34800	T	0.215	0.26306	T	0.024	0.19075	B	0.04	0.23831	B	0.208503	0.16423	N	0.608859	0.949615	0.37659	D	1.61	0.41143	L	1.04	0.40218	T	-3.79	0.71639	D	0.116	0.10483	-1.0692	0.09590	T	0.077	0.30951	T	10	0.02792576	0.00930	T	0.010277	0.26632	T	0.033	0.08068	.	.	0.533179623451	0.52966	0.3054585791658075	0.30458	0.325979279674	0.34754	0.288007467985	0.08633	T	0.379065	0.74190	T	-0.553554	0.00278	T	-0.663004	0.08065	T	0.0261599964454996	0.01428	T	0.862414	0.55771	D	0.09703114	0.22865	0.13523827	0.32385	0.09703114	0.22865	0.13523827	0.32384	-7.44	0.57187	T	.	.	0.109	0.20819	B	.	.	0.328079	0.07020	3.582	0.96342550326211429	0.29486	0.38724	0.26053	N	AEFDBI	0.436463	0.49667	N	-0.889037127879495	0.11102	0.5339935	-0.922382140307808	0.11566	0.5900329	0.999969173083622	0.48965	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.81	0.564	0.16487	-0.005000	0.12791	0.062000	0.14145	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.968000	0.53726	0.0:0.5542:0.2777:0.1681	6.399	0.20831	911	0.21964	Leucine-rich repeat N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2629.98	35	chr1	203483425	.	C	T	2629.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.380e-01;DP=1276;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.65;ReadPosRankSum=-4.270e-01;SOR=0.685	GT:AD:DP:GQ:PL	0/0:70,0:70:99:0,120,1800	20	0	1	0
chr1	203486733	203486733	A	G	exonic	PRELP	.	nonsynonymous SNV	PRELP:NM_002725:exon3:c.A1001G:p.N334S	.	.	425	1034	60	3	0	66	0.0309278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.003	B	0.320	N	1.000	N	-0.55	N	3.68	T	-0.900	T	0.004	T	0.113	-1.525	0.016	-0.025	0.025	0.208	6.184	0.016	.	0.0052	0.00758786	0.0095	0.0014	0.0024	0	0.0136	0.0086	0.0066	0.0267	0.0087062	1346	154602	rs2233732	0.0072	0.0072	0.0064	0.0079	0.0272	0.0070	0.0070	0.0262	0.0259	0.0004	0.0016	0.0025	5.044e-05	0.0145	0.0115	0.0060	0.0067	0.0272	0.0056	0.0056	0.0048	0.0065	0.0232	0.0053	0.0052	0.0198	0.0184	0.0013	0	0.0016	0.0020	0	0.0160	0.0102	0.0071	0.0038	0.0232	1.0	0.00964	T	0.743	0.04930	T	0.0	0.02946	B	0.003	0.08700	B	0.320284	0.14282	N	0.686157	1	0.08975	N	0.14	0.08730	N	3.68	0.04151	T	0.43	0.03297	N	0.082	0.05799	-0.8997	0.48024	T	0.004	0.01261	T	10	0.0030761957	0.00051	T	.	.	.	0.016	0.02506	.	.	0.314716216878	0.31082	0.37569064836316246	0.37483	0.244964202467	0.27014	0.271674275398	0.06360	T	0.126654	0.45317	T	-0.673857	0.00052	T	-0.719775	0.04807	T	0.00674077304250171	0.00076	T	0.630137	0.24490	T	0.039595705	0.05495	0.05605384	0.09946	0.039595705	0.05495	0.05605384	0.09946	-2.302	0.04566	T	.	.	0.058	0.00670	B	.	.	0.390899	0.07625	4.288	0.21749631327509414	0.00843	0.10202	0.15773	N	AEFBI	0.179498	0.30679	N	-1.17441942802711	0.05389	0.2455513	-1.11938639794999	0.07330	0.3561344	0.999580077036567	0.40607	0.581397	0.33459	0	0.547309	0.14657	0	0.565031	0.19037	0	0.613276	0.41899	0	.	.	5.45	-0.0252	0.13262	0.099000	0.15047	1.477000	0.26794	0.756000	0.94297	0.000000	0.06391	0.213000	0.23658	0.773000	0.36634	0.5174:0.2678:0.2148:0.0	6.184	0.19702	911	0.21964	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	3808.68	45	chr1	203486733	.	A	G	3808.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.377;DP=1083;ExcessHet=0.3300;FS=0.796;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.55;ReadPosRankSum=0.010;SOR=0.649	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	3	0
chr1	203710948	203710948	G	A	exonic	ATP2B4	.	nonsynonymous SNV	ATP2B4:NM_001001396:exon12:c.G1871A:p.R624H	.	.	.	.	.	.	.	.	.	.	.	2719525	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	0.043	B	0.018	B	0.081	N	0.969	D	0.195	N	-3.89	D	-0.067	T	0.635	D	0.181	2.242	13.45	3.46	0.735	1.345	6.969	0.192	0.0769708542405	.	.	4.131e-05	0	0	0.0002	0	3.002e-05	0	6.081e-05	3.88e-05	6	154602	rs754998537	2.873e-05	2.873e-05	2.314e-05	3.438e-05	0.0003	2.151e-05	1.908e-05	6.092e-05	2.521e-05	0	0	0	5.039e-05	0	0.0003	2.968e-05	4.968e-05	2.319e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.144	0.25255	T	0.148	0.33442	T	0.043	0.21573	B	0.017	0.18140	B	0.080851	0.20900	N	0.418622	0.968684	0.38677	D	0.825	0.20901	L	-3.89	0.95984	D	-2.73	0.58085	D	0.324	0.36464	-0.0672	0.80841	T	0.635	0.87215	D	10	0.11718908	0.22126	T	0.076971	0.72659	D	0.192	0.47115	0.406	0.43902	0.561549812431	0.55816	0.39269514926052435	0.39184	0.54344270268	0.51422	0.309565871954	0.11842	T	.	.	.	-0.112806	0.34305	T	-0.174113	0.57067	T	0.193137779831886	0.20028	T	0.861914	0.55630	D	.	.	.	.	.	.	.	.	-7.944	0.60687	D	.	.	0.089	0.16275	B	.;.;.	.;.;.	1.839390	0.23369	15.99	0.9948578066955106	0.67124	0.31569	0.24370	N	AEFBI	0.067691	0.13319	N	-0.614182626627507	0.18518	0.9620239	-0.512822111473284	0.21804	1.181301	0.972610177901701	0.29386	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.33	3.46	0.38718	1.053000	0.30052	-0.942000	0.06844	0.665000	0.62972	0.020000	0.19661	0.000000	0.08366	0.985000	0.61073	0.384:0.0:0.616:0.0	6.969	0.23816	590	0.68897	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2417.98	38	chr1	203710948	.	G	A	2417.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=1003;ExcessHet=0.0000;FS=1.584;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.16;ReadPosRankSum=2.45;SOR=0.578	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr1	203773927	203773927	C	T	exonic	LAX1	.	nonsynonymous SNV	LAX1:NM_001136190:exon5:c.C395T:p.T132I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.0	B	0.0	B	0.001	N	1.000	N	0.345	N	.	.	-1.051	T	0.037	T	0.071	-1.072	0.171	-5.63	-0.987	-0.102	0.945	0.007	0.00243153906588	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482081639	6.841e-07	6.84e-07	1.361e-06	0	2.236e-05	0	0	.	.	0	2.236e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.421	0.09806	T	0.957	0.02568	T	0.0	0.02946	B	0.0	0.01387	B	0.001375	0.00776	N	2.920520	1	0.08975	N	0.345	0.11182	N	.	.	.	1.54	0.00702	N	0.029	0.00666	-1.0513	0.14036	T	0.037	0.15943	T	9	0.045133114	0.03550	T	0.002432	0.04785	T	0.007	0.00512	.	.	0.289474373501	0.28556	0.008223263061488798	0.00787	0.105701892272	0.11951	0.193740367889	0.00298	T	0.077062	0.35566	T	-0.379029	0.03160	T	-0.69936	0.05861	T	0.0423558410000536	0.04119	T	0.393961	0.09832	T	0.018030172	0.00325	0.023556141	0.00369	0.018030172	0.00325	0.023556141	0.00369	-4.885	0.35566	T	.	.	0.110	0.28377	B	.;.	.;.	-1.057657	0.00693	0.020	0.13089565966618066	0.00247	0.00211	0.01201	N	AEFDBI	0.015332	0.00287	N	-1.9883459270979	0.00224	0.009602663	-1.99925276281	0.00307	0.01357292	0.120833980599573	0.16877	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.34	-5.63	0.02276	-0.099000	0.10976	-3.362000	0.02845	-3.032000	0.00135	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.266:0.3154:0.1263:0.2923	0.945	0.01278	472	0.77968	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1746.98	38	chr1	203773927	.	C	T	1746.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.141e+00;DP=1053;ExcessHet=0.0000;FS=0.678;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.76;ReadPosRankSum=-1.199e+00;SOR=0.818	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,108,1800	20	0	1	0
chr1	204261313	204261313	G	A	exonic	PLEKHA6	.	nonsynonymous SNV	PLEKHA6:NM_014935:exon7:c.C517T:p.R173W,	.	.	412	1095	14	1	0	16	0.00725295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.99	D	0.402	B	0.225	N	0.999	N	1.39	L	3.28	T	-1.076	T	0.017	T	0.381	2.540	14.45	5.56	2.601	4.830	16.254	0.105	.	0.0013	0.00219649	0.0019	0.0003	0.0042	0	0	0.0023	0.0066	0.0013	0.0019275	298	154602	rs141581226	0.0019	0.0019	0.0018	0.0020	0.0163	0.0018	0.0018	0.0136	0.0126	0.0011	0.0035	0.0123	2.519e-05	0	0.0163	0.0016	0.0032	0.0018	0.0016	0.0016	0.0016	0.0017	0.0036	0.0014	0.0014	0.0028	0.0026	0.0004	0	0.0036	0.0141	0	0	0.0102	0.0016	0.0038	0.0008	0.003	0.72154	D	0.018	0.76473	D	0.99	0.63424	D	0.402	0.44547	B	0.225397	0.16041	N	0.655487	0.998607	0.22043	N	1.7	0.43825	L	2.79	0.11189	T	-1.85	0.44657	N	0.434	0.50598	-1.0758	0.08184	T	0.017	0.06855	T	10	0.005449593	0.00120	T	.	.	.	0.105	0.29889	.	.	0.043077524339	0.03247	0.6050892427757084	0.60439	0.26449745186	0.28997	0.441804796457	0.30824	T	0.054144	0.29641	T	-0.452795	0.01087	T	-0.425922	0.30399	T	0.0598023135962764	0.07137	T	0.956054	0.83719	D	0.05917341	0.11995	0.09994748	0.23881	0.05917341	0.11995	0.09994748	0.23881	-10.399	0.76265	D	.	.	0.105	0.19235	B	.;.;.	.;.;.	4.002906	0.59000	24.0	0.9978737026042015	0.87308	0.96305	0.68491	D	AEFBI	0.701814	0.65839	D	0.194244416289756	0.50924	3.277811	0.152286917677565	0.47263	2.959197	0.999999997467479	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.56	5.56	0.83678	5.652000	0.67632	4.017000	0.41215	0.676000	0.76740	0.990000	0.36992	0.999000	0.35428	0.009000	0.08673	0.0:0.0:1.0:0.0	16.254	0.82323	829	0.39537	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1658.68	42	chr1	204261313	.	G	A	1658.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.12;DP=794;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.05;ReadPosRankSum=0.398;SOR=0.722	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1058	18	0	3	0
chr1	204409778	204409778	G	C	exonic	PPP1R15B	.	nonsynonymous SNV	PPP1R15B:NM_032833:exon1:c.C1634G:p.S545C,	Microcephaly, short stature, and impaired glucose metabolism 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.203	B	0.231	B	0.431	N	1.000	N	2.255	M	1.64	T	-0.955	T	0.120	T	0.195	3.070	16.25	3.44	0.594	1.293	14.664	0.124	0.00477615215574	.	.	6.597e-05	0	0.0002	0	0	8.996e-05	0	0	7.12e-05	11	154602	rs763050964	5.541e-05	5.609e-05	5.173e-05	5.913e-05	0.0002	4.543e-05	4.155e-05	2.985e-05	1.804e-05	0	8.944e-05	0.0016	0	0	0.0002	2.248e-05	0.0001	0	7.228e-05	7.224e-05	6.425e-05	8.069e-05	6.545e-05	3.971e-05	3.128e-05	4.88e-06	1.83e-06	0	0	6.545e-05	0.0023	0	0	0	2.94e-05	0	0	0.035	0.43708	D	0.013	0.63109	D	.	.	.	.	.	.	0.430714	0.12751	N	0.725151	1	0.08975	N	.	.	.	1.64	0.27822	T	-2.02	0.46503	N	0.149	0.15187	-0.9552	0.40060	T	0.120	0.42015	T	10	0.026930869	0.00849	T	0.004776	0.11910	T	0.124	0.34239	0.423	0.46693	0.417334834585	0.41349	0.23746273317081126	0.23661	0.13327128798	0.15006	0.35568434	0.18756	T	.	.	.	-0.336764	0.05616	T	-0.524543	0.19835	T	0.0828393695518075	0.10347	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.22282	B	.	.	3.649356	0.51790	23.1	0.98643142347801005	0.44082	0.18162	0.20145	N	AEFGBCI	0.096286	0.19440	N	-0.26919370058488	0.30345	1.691098	-0.282061627304853	0.28688	1.601526	0.999999809082415	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.657601	0.63696	0	.	.	5.38	3.44	0.38486	1.341000	0.33512	5.582000	0.48972	-0.111000	0.15049	0.227000	0.24611	1.000000	0.68203	0.981000	0.58702	0.0:0.5084:0.4916:0.0	14.664	0.68504	622	0.65860	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1442.98	34	chr1	204409778	.	G	C	1442.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.150e-01;DP=833;ExcessHet=0.0000;FS=3.444;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=0.990;SOR=1.023	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1089	20	0	1	0
chr1	204444146	204444146	C	T	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.G2789A:p.C930Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.999	D	0.985	D	0.000	D	0.998	D	1.7	L	0.01	T	-0.652	T	0.334	T	0.955	4.229	22.0	5.98	2.837	2.643	14.830	0.336	0.0395205411741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	1.368e-06	1.362e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.051	0.49390	T	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.997849	0.44246	D	2.33	0.66821	M	0.01	0.62459	T	-4.37	0.77061	D	0.851	0.84817	-0.6521	0.62622	T	0.334	0.70101	T	10	0.7551726	0.75928	D	0.039521	0.58854	D	0.336	0.65816	0.312	0.28612	0.731197027204	0.72880	0.44362017305618334	0.44280	1.35405607476	0.84143	0.879551887512	0.93900	D	0.617515	0.87964	D	0.289904	0.82147	D	0.17865	0.81918	D	0.956505954265594	0.64774	D	0.920508	0.71260	D	0.453303	0.64250	0.49103993	0.70556	0.453303	0.64251	0.49103993	0.70557	-10.862	0.78895	D	.	.	0.601	0.79505	P	.;.	.;.	4.755519	0.76829	26.6	0.9976745670120315	0.85583	0.90357	0.51468	D	ALL	0.660412	0.63099	D	0.458512160282776	0.64688	4.728999	0.511871425671665	0.68789	5.26863	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	2.703000	0.46778	7.616000	0.62106	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.144:0.856:0.0:0.0	14.830	0.69772	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2619	2825.06	151	chr1	204444146	.	C	T	2825.06	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-4.450e+00;DP=2570;ExcessHet=7.7275;FS=223.489;InbreedingCoeff=-0.3719;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=1.73;ReadPosRankSum=1.35;SOR=12.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,38:160:99:0|1:204444146_C_T:363,0,3872:204444146	10	0	11	0
chr1	204444147	204444147	A	G	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.T2788C:p.C930R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.999	D	0.985	D	0.000	D	1.000	D	1.005	L	0.14	T	-0.723	T	0.246	T	0.971	3.959	20.3	5.98	2.288	3.844	10.472	0.372	0.0699442069728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.034	0.53788	D	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.83	0.20963	L	0.14	0.60854	T	-5.22	0.83830	D	0.861	0.86191	-0.7225	0.59339	T	0.246	0.61530	T	10	0.6625425	0.70238	D	0.069944	0.70868	D	0.372	0.69102	0.335	0.32329	0.796189045978	0.79428	0.5671153260514122	0.56639	1.38482303822	0.84866	0.874912202358	0.93263	D	0.60522	0.87406	D	0.279203	0.81249	D	0.163279	0.81006	D	0.975287973880768	0.70867	D	0.739426	0.52772	T	0.74623775	0.80650	0.7226829	0.83623	0.74623775	0.80652	0.7226829	0.83624	-7.62	0.58450	D	.	.	0.819	0.87226	P	.;.	.;.	4.639661	0.73847	26.1	0.99796849897327999	0.88194	0.90532	0.51786	D	ALL	0.673803	0.63974	D	0.263763222116594	0.54323	3.598145	0.384514743775906	0.60611	4.250483	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	3.831000	0.55477	11.132000	0.86827	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.9272:0.0:0.0728:0.0	10.472	0.43830	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2	1053.66	151	chr1	204444147	.	A	G	1053.66	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-4.399e+00;DP=2661;ExcessHet=3.5521;FS=172.132;InbreedingCoeff=-0.2533;MLEAC=8;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=0.89;ReadPosRankSum=1.46;SOR=11.360	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,38:160:99:0|1:204444146_C_T:363,0,3872:204444146	12	0	8	1
chr1	204457055	204457055	C	A	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon10:c.G1729T:p.A577S	.	.	428	1076	17	1	0	19	0.00875173	.	.	2815974	PIK3C2B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.013	B	0.022	B	0.554	N	0.992	N	0.365	N	0.9	T	-1.044	T	0.044	T	0.12	0.457	6.483	3.44	1.219	2.662	8.704	0.092	.	0.0058	0.00339457	0.0104	0.0006	0.0114	0	0.0184	0.0192	0	0.0024	0.005401	835	154602	rs61762602	0.0073	0.0074	0.0075	0.0071	0.0082	0.0072	0.0072	0.0080	0.0080	0.0009	0.0044	0.0071	0	0.0088	0.0079	0.0082	0.0075	0.0022	0.0058	0.0058	0.0059	0.0058	0.0082	0.0055	0.0054	0.0077	0.0074	0.0013	0.0022	0.0078	0.0107	0	0.0079	0.0102	0.0082	0.0066	0.0033	0.759	0.03492	T	1.0	0.02555	T	0.0	0.16609	B	0.001	0.19653	B	0.553917	0.05385	N	1.242290	0.991997	0.23951	N	1.59	0.40313	L	0.9	0.45248	T	0.41	0.03407	N	0.326	0.36674	-1.0443	0.16030	T	0.044	0.18742	T	10	0.0054474175	0.00120	T	.	.	.	0.092	0.26621	.	.	0.331200485591	0.32731	0.2228740159941752	0.22202	0.313180073728	0.33613	0.499567329884	0.38767	T	0.031403	0.22025	T	-0.577101	0.00201	T	-0.592347	0.13463	T	0.00633779952525549	0.00070	T	0.532447	0.21082	T	0.03837733	0.05102	0.03928205	0.03985	0.03837733	0.05102	0.03928205	0.03984	-3.375	0.14722	T	.	.	0.088	0.12276	B	.;.	.;.	2.899083	0.38415	20.7	0.72102997173930505	0.09857	0.96027	0.67203	D	AEFDBIJ	0.368507	0.45558	N	-0.443746811418011	0.23953	1.289933	-0.229332177330784	0.30489	1.717187	0.999943843182665	0.47345	0.643511	0.44296	0	0.653731	0.59785	0	0.688494	0.62686	0	0.635551	0.53088	0	.	.	5.33	3.44	0.38486	2.581000	0.45742	2.190000	0.31200	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:0.8218:0.0:0.1782	8.704	0.33504	629	0.65079	.;.	.	.	.	.	rs61762602	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1649.98	42	chr1	204457055	.	C	A	1649.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.646;DP=1007;ExcessHet=0.0000;FS=1.384;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=-1.520e+00;SOR=0.886	GT:AD:DP:GQ:PL	0/0:59,0:59:99:0,115,1800	20	0	1	0
chr1	204460575	204460575	A	G	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon6:c.T1397C:p.V466A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.577	N	1.000	N	0	N	0.49	T	-1.028	T	0.064	T	0.021	-1.342	0.030	2.56	0.766	3.640	8.585	0.110	0.00554576004757	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1195190376	2.052e-06	2.052e-06	2.723e-06	1.375e-06	2.236e-05	5.5e-07	1.5e-07	.	.	0	2.236e-05	0	0	0	0	8.993e-07	0	1.159e-05	6.575e-06	6.567e-06	0	1.346e-05	6.547e-05	0	0	.	.	0	0	6.547e-05	0	0	0	0	0	0	0	1.0	0.00964	T	0.801	0.04054	T	0.0	0.02946	B	0.0	0.01387	B	0.577223	0.11178	N	0.818992	0.999997	0.08975	N	0	0.06538	N	0.37	0.57729	T	1.38	0.00857	N	0.08	0.05542	-1.0282	0.21038	T	0.064	0.26562	T	10	0.04972583	0.04603	T	0.005546	0.14288	T	0.110	0.31079	0.415	0.45380	0.138757226776	0.13463	0.11695581202791344	0.11623	0.361612119172	0.37821	0.286048918962	0.08350	T	0.106991	0.41880	T	-0.351564	0.04630	T	-0.659909	0.08272	T	0.00897817517942448	0.00112	T	0.375462	0.08961	T	0.018732725	0.00396	0.03515796	0.02715	0.018732725	0.00396	0.03515796	0.02715	-0.11	0.00390	T	.	.	0.048	0.00094	B	.;.	.;.	1.123079	0.15092	11.58	0.2570741008678985	0.01198	0.10489	0.15982	N	AEFBCI	0.014159	0.00215	N	-1.15851885726537	0.05641	0.2576931	-0.996761931846487	0.09857	0.4929189	0.999892372829983	0.45129	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.662433	0.64102	0	.	.	5.81	2.56	0.29842	3.516000	0.53194	4.278000	0.42871	-0.884000	0.02433	0.561000	0.27433	0.999000	0.35428	0.155000	0.20479	0.0817:0.0:0.6374:0.2809	8.585	0.32814	624	0.65661	Phosphatidylinositol 3-kinase Ras-binding (PI3K RBD) domain;Phosphatidylinositol 3-kinase Ras-binding (PI3K RBD) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1333.98	35	chr1	204460575	.	A	G	1333.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.020;DP=856;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.95;ReadPosRankSum=0.390;SOR=0.729	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1313	20	0	1	0
chr1	204468995	204468995	A	C	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon2:c.T808G:p.S270A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.027	B	0.073	B	0.217	N	0.999	N	0.895	L	0.12	T	-0.991	T	0.117	T	0.084	2.130	13.08	3.33	0.502	0.710	3.885	0.027	0.0307117418237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.37750	T	0.418	0.14200	T	0.001	0.19556	B	0.006	0.28123	B	0.216713	0.16235	N	0.589346	0.998877	0.21836	N	1.32	0.33002	L	0.12	0.61559	T	-1.08	0.28084	N	0.132	0.12770	-0.9912	0.32295	T	0.117	0.41320	T	10	0.06381911	0.08372	T	0.030712	0.52960	D	0.027	0.05988	0.183	0.09131	0.477373126834	0.47367	0.13578805970338348	0.13502	0.265944137015	0.29141	0.313141226768	0.12382	T	0.080931	0.36480	T	-0.203492	0.20301	T	-0.530078	0.19279	T	0.0820245323467268	0.10244	T	0.660634	0.27067	T	0.04041605	0.05764	0.039221916	0.03965	0.04041605	0.05764	0.039221916	0.03965	-4.159	0.26155	T	.	.	0.055	0.01555	B	.;.	.;.	1.715357	0.21842	15.37	0.98201215693644495	0.39123	0.38345	0.25967	N	AEFDGBHCI	0.163919	0.29025	N	-0.495183972567038	0.22237	1.186007	-0.373671606960268	0.25784	1.420126	0.999914302049206	0.45857	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.35	3.33	0.37245	0.724000	0.25624	3.408000	0.38171	0.756000	0.94297	0.271000	0.25055	1.000000	0.68203	0.985000	0.61073	0.2187:0.0:0.5502:0.2311	3.885	0.08597	609	0.67094	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1870.98	33	chr1	204468995	.	A	C	1870.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.393e+00;DP=887;ExcessHet=0.0000;FS=5.844;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=-1.300e-02;SOR=0.390	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1387	20	0	1	0
chr1	204618005	204618005	C	T	exonic	LRRN2	.	nonsynonymous SNV	LRRN2:NM_201630:exon2:c.G1988A:p.R663Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.001	B	0.001	B	.	.	1.000	N	0	N	0.3	T	-1.023	T	0.073	T	0.128	0.987	9.030	-0.344	0.277	0.246	6.338	0.014	0.0159225203713	.	.	4.172e-05	0	0	0	0	7.591e-05	0	0	3.23e-05	5	154602	rs778385692	4.862e-05	4.857e-05	4.632e-05	5.093e-05	0.0001	3.93e-05	3.608e-05	5.851e-05	3.759e-05	0.0001	0	0.0003	0	0	0	4.499e-05	1.657e-05	8.129e-05	7.892e-05	7.882e-05	6.428e-05	9.425e-05	0.0002	4.5e-05	3.515e-05	1.972e-05	1.125e-05	7.247e-05	0	0	0.0012	0.0002	0	0	5.881e-05	0	0	0.362	0.11844	T	0.512	0.10750	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.3	0.58755	T	-0.09	0.08340	N	0.04	0.01825	-1.0233	0.22638	T	0.073	0.29610	T	9	0.029547602	0.01081	T	0.015923	0.36914	T	0.014	0.01968	.	.	0.490144168196	0.48647	0.26646037289813046	0.26559	0.507287636852	0.48913	0.446142435074	0.31417	T	0.006457	0.05891	T	-0.452212	0.01096	T	-0.607912	0.12154	T	0.0223376497231902	0.00946	T	0.532847	0.17735	T	0.037211783	0.04726	0.043417882	0.05397	0.037211783	0.04726	0.043417882	0.05397	-4.569	0.31779	T	.	.	0.081	0.08176	B	.;.;.	.;.;.	1.322621	0.17269	13.06	0.95629212165987332	0.27408	0.03996	0.09418	N	AEFDBI	0.084239	0.17070	N	-1.14705616449299	0.05828	0.2667228	-1.06527757100656	0.08392	0.4123965	0.951276930038203	0.27947	0.57788	0.32782	0	0.59043	0.45803	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	5.47	-0.344	0.12001	0.374000	0.20232	0.433000	0.18345	0.599000	0.40250	0.002000	0.15269	0.182000	0.23429	0.222000	0.22517	0.0:0.5393:0.1281:0.3326	6.338	0.20511	766	0.49742	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1114.98	58	chr1	204618005	.	C	T	1114.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.75;DP=1029;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.48;ReadPosRankSum=-3.310e-01;SOR=0.641	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	20	0	1	0
chr1	204618461	204618461	C	T	exonic	LRRN2	.	nonsynonymous SNV	LRRN2:NM_201630:exon2:c.G1532A:p.S511N	.	.	410	1109	1	0	2	3	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.011	B	0.033	B	0.038	N	1.000	N	0.82	L	-0.31	T	-0.987	T	0.154	T	0.031	0.256	5.385	2.32	0.204	0.355	7.735	0.041	0.0115361977925	.	0.00159744	0.0011	0.0007	0.0011	0	0	0.0015	0.0022	0.0008	0.0011837	183	154602	rs76468836	0.0013	0.0013	0.0014	0.0013	0.0016	0.0013	0.0013	0.0015	0.0015	8.961e-05	0.0014	3.826e-05	0	7.489e-05	0.0005	0.0016	0.0014	0.0006	0.0010	0.0010	0.0011	0.0009	0.0018	0.0009	0.0008	0.0013	0.0012	0.0004	0	0.0018	0	0	0	0	0.0015	0.0014	0.0006	0.203	0.20154	T	0.33	0.18560	T	0.011	0.15914	B	0.033	0.22329	B	0.037551	0.24389	N	0.293785	1	0.08975	N	1.075	0.27130	L	-0.31	0.68030	T	-1.14	0.29323	N	0.054	0.02559	-0.9865	0.33469	T	0.154	0.48412	T	10	0.008836746	0.00200	T	0.011536	0.29267	T	0.041	0.10877	.	.	0.492749560936	0.48908	0.5439334695986374	0.54319	0.412352421921	0.41979	0.556581377983	0.46785	T	0.024041	0.18239	T	-0.569128	0.00224	T	-0.595837	0.13163	T	0.00446389915369691	0.00048	T	0.566543	0.20051	T	0.121992014	0.28677	0.100350134	0.23991	0.121992014	0.28676	0.100350134	0.23991	-4.803	0.34627	T	.	.	0.110	0.21277	B	.;.;.	.;.;.	1.213711	0.16070	12.30	0.94258309782672767	0.24536	0.08655	0.14553	N	AEFDBI	0.065812	0.12857	N	-0.754675980214169	0.14505	0.723185	-0.713290252859593	0.16631	0.8806551	0.999540872929084	0.40300	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.27	2.32	0.27895	0.635000	0.24318	0.418000	0.18188	0.549000	0.26987	0.000000	0.06391	0.028000	0.21151	0.995000	0.73285	0.0:0.4903:0.3628:0.1469	7.735	0.27975	770	0.49152	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2104.98	141	chr1	204618461	.	C	T	2104.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.910e-01;DP=1773;ExcessHet=0.0000;FS=0.625;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.93;ReadPosRankSum=0.228;SOR=0.758	GT:AD:DP:GQ:PL	0/0:125,0:125:99:0,120,1800	20	0	1	0
chr1	204954925	204954925	C	G	exonic	NFASC	.	nonsynonymous SNV	NFASC:NM_001160331:exon4:c.C491G:p.S164C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.939	D	0.002	N	0.999	D	1.24	L	2.65	T	-1.144	T	0.075	T	0.435	4.742	26.5	5.46	2.573	4.963	18.917	0.097	0.0141274231868	.	.	1.649e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs575521973	4.104e-06	4.104e-06	0	8.25e-06	6.956e-05	1.48e-06	9.7e-07	2.995e-05	2.038e-05	0	0	0	0	0	0	0	0	6.956e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.939	0.67449	D	0.001765	0.38052	N	0.119263	0.999266	0.46490	D	1.32	0.33002	L	2.65	0.12676	T	-2.35	0.52776	N	0.421	0.47208	-1.1441	0.01212	T	0.075	0.30272	T	10	0.3729083	0.53613	T	0.014127	0.34038	T	0.208	0.49714	0.459	0.52590	0.29893580763	0.29502	0.33099959284559505	0.33012	1.11478728915	0.78149	0.641133189201	0.58725	T	0.247702	0.61738	T	-0.182673	0.23339	T	-0.40332	0.32998	T	0.904917597770691	0.55851	D	0.957704	0.84427	D	.	.	.	.	.	.	.	.	-12.75	0.88307	D	.	.	0.642	0.73132	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.695867	0.75298	26.3	0.99300923861623502	0.58613	0.97047	0.72382	D	AEFDBI	0.823200	0.74336	D	0.593527205677628	0.72769	5.858247	0.62770366715782	0.76960	6.58822	0.999964201824497	0.48965	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.46	5.46	0.80021	5.037000	0.63964	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.818000	0.38543	0.0:1.0:0.0:0.0	18.917	0.92481	735	0.53711	.;.;.;.;.;.;.;.;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2089.98	34	chr1	204954925	.	C	G	2089.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=847;ExcessHet=0.0000;FS=3.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.93;ReadPosRankSum=1.41;SOR=0.795	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1413	20	0	1	0
chr1	205211450	205211450	C	T	exonic	DSTYK	.	nonsynonymous SNV	DSTYK:NM_015375:exon1:c.G86A:p.R29Q	.	.	278	1240	3	1	0	5	0.00201207	.	.	75261	not_specified|Congenital_anomalies_of_kidney_and_urinary_tract_1|not_provided	MedGen:CN169374|Gene:100034704,MONDO:MONDO:0012561,MedGen:C1835826,OMIM:610805|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.22	T	0.998	D	0.986	D	0.000	D	1.000	D	1.3	L	-1.44	T	0.134	D	0.610	D	0.517	5.313	34	5.24	2.458	4.131	16.596	0.384	0.689281990408	.	0.000798722	0.0010	0	0.0004	0	0	0.0012	0.0077	0.0017	0.0005951	92	154602	rs200780796	0.0007	0.0006	0.0006	0.0007	0.0017	0.0006	0.0006	0.0015	0.0014	0.0001	0.0008	0.0089	0	0	0.0017	0.0004	0.0009	0.0017	0.0007	0.0007	0.0006	0.0008	0.0021	0.0006	0.0006	0.0015	0.0013	9.62e-05	0	0.0021	0.0092	0	0	0	0.0005	0.0005	0.0008	0.45	0.09374	T	0.364	0.17115	T	0.998	0.73220	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	0.999974	0.53665	D	1.355	0.33814	L	-1.69	0.83072	D	-0.75	0.24676	N	0.556	0.81957	0.134	0.84769	D	0.610	0.86166	D	10	0.012831062	0.00274	T	0.689282	0.97439	D	0.384	0.70112	0.406	0.43902	0.82854224837	0.82691	0.5089995500452199	0.50821	0.623705127135	0.56599	0.886880040169	0.94866	D	0.012442	0.10938	T	-0.154096	0.27674	T	-0.00138888	0.70246	D	0.210075944662094	0.20957	T	0.879112	0.59504	D	0.45025098	0.64057	0.4489708	0.67923	0.37857646	0.59214	0.38503048	0.63429	-4.119	0.25848	T	.	.	0.260	0.49451	B	.;.	.;.	4.527918	0.71055	25.6	0.99902379961303411	0.97350	0.63219	0.32021	D	ALL	0.553080	0.56448	D	0.543073019713175	0.69661	5.388825	0.556095473171162	0.71820	5.713849	1.0	0.98316	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	5.24	5.24	0.72863	4.215000	0.58331	7.249000	0.57924	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	16.596	0.84648	420	0.81451	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1279.98	34	chr1	205211450	.	C	T	1279.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.780e-01;DP=791;ExcessHet=0.0000;FS=2.756;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.62;ReadPosRankSum=-3.970e-01;SOR=0.426	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1015	20	0	1	0
chr1	205272107	205272107	G	A	exonic	TMCC2	.	nonsynonymous SNV	TMCC2:NM_001297611:exon4:c.G1438A:p.V480M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.978	D	0.586	P	0.003	N	0.911	D	0.2	N	1.46	T	-0.966	T	0.079	T	0.174	2.238	13.44	4.17	1.368	3.239	13.285	0.021	0.00772779029075	0.0002	.	3.315e-05	0	0	0	0	6.029e-05	0	0	3.88e-05	6	154602	rs140763897	8.08e-05	8.072e-05	7.9e-05	8.262e-05	9.182e-05	6.874e-05	6.427e-05	7.693e-05	7.18e-05	8.964e-05	8.949e-05	0	0	0	0	9.182e-05	0.0001	2.319e-05	9.199e-05	9.194e-05	8.993e-05	9.414e-05	0.0001	5.528e-05	4.365e-05	4.765e-05	3.339e-05	9.652e-05	0	0.0001	0	0	0	0	0.0001	0.0005	0	0.189	0.21224	T	0.411	0.14500	T	0.409	0.35027	B	0.043	0.24256	B	0.002583	0.36278	N	0.172911	0.911096	0.36413	D	0.895	0.22405	L	1.43	0.43672	T	0.18	0.05310	N	0.369	0.46274	-0.9658	0.38053	T	0.079	0.31526	T	10	0.15322053	0.28927	T	0.007728	0.20510	T	0.021	0.04004	.	.	0.579957930997	0.57666	0.6338500757943966	0.63319	0.772811304884	0.64862	0.786911249161	0.79972	T	0.027126	0.19931	T	-0.350741	0.04681	T	-0.51589	0.20713	T	0.14053837954998	0.16322	T	0.931907	0.74605	D	0.09943963	0.23469	0.08888256	0.20752	0.09943963	0.23469	0.08888256	0.20751	-8.122	0.63758	D	.	.	0.127	0.27009	B	.;.;.;.;.	.;.;.;.;.	3.326741	0.45779	22.2	0.9958454219456202	0.73218	0.96219	0.68083	D	AEFGBI	0.636803	0.61582	D	0.043572024415287	0.43846	2.669752	0.150072282295071	0.47145	2.949244	0.999955150218683	0.48110	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.550183	0.17644	0	.	.	5.08	4.17	0.48303	2.845000	0.47954	6.491000	0.55760	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0771:0.0:0.9229:0.0	13.285	0.59673	657	0.62240	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1142.98	50	chr1	205272107	.	G	A	1142.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.870e-01;DP=879;ExcessHet=0.0000;FS=0.931;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.04;ReadPosRankSum=0.779;SOR=0.510	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr1	205419237	205419237	G	T	exonic	LEMD1	.	nonsynonymous SNV	LEMD1:NM_001001552:exon3:c.C198A:p.D66E	.	.	429	1092	1	0	0	1	0.000457666	.	.	2397472	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.041	B	0.047	B	0.985	N	1.000	N	0.805	L	0.72	T	-0.982	T	0.101	T	0.017	2.106	13.00	2.16	0.889	0.059	3.484	0.076	0.0122183968959	.	.	0.0001	9.61e-05	0	0	0	0.0002	0.0011	0	9.06e-05	14	154602	rs760767068	5.815e-05	5.814e-05	5.582e-05	6.051e-05	0.0005	4.81e-05	4.431e-05	0.0001	7.544e-05	0	0.0002	0.0004	0	0	0.0005	5.306e-05	6.624e-05	2.319e-05	5.912e-05	5.91e-05	2.569e-05	9.412e-05	0.0001	3.077e-05	2.21e-05	2.846e-05	1.858e-05	2.412e-05	0	0.0001	0.0003	0	0	0	7.349e-05	0	0	0.162	0.23541	T	0.058	0.46182	T	0.041	0.21357	B	0.026	0.24832	B	0.985067	0.08068	N	0.993248	1	0.08975	N	0.895	0.22405	L	0.72	0.58176	T	-1.98	0.45769	N	0.083	0.05929	-0.9821	0.34515	T	0.101	0.37366	T	10	0.03466314	0.01683	T	0.012218	0.30597	T	0.076	0.22200	0.19	0.10039	0.221019684889	0.21715	0.05961590987441836	0.05901	0.0270007444614	0.02760	0.284455627203	0.08122	T	0.015428	0.12940	T	-0.49142	0.00638	T	-0.688622	0.06469	T	0.0128154983108049	0.00218	T	0.49795	0.20917	T	0.05340486	0.10101	0.07478595	0.16396	0.05340486	0.10101	0.07478595	0.16396	-3.728	0.20223	T	.	.	0.191	0.41171	B	.;.;.;.	.;.;.;.	1.277229	0.16768	12.75	0.92922408411072566	0.22484	0.05078	0.10873	N	AEFBI	0.062964	0.12137	N	-0.790468423961063	0.13558	0.6687431	-0.798012036858835	0.14543	0.7604607	0.0269867885769923	0.13746	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.25	2.16	0.26663	0.070000	0.14440	1.368000	0.25934	0.676000	0.76740	0.000000	0.06391	0.016000	0.20520	0.147000	0.20199	0.091:0.1706:0.5619:0.1766	3.484	0.07178	863	0.32847	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	556.98	34	chr1	205419237	.	G	T	556.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.950e-01;DP=747;ExcessHet=0.0000;FS=3.773;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.95;ReadPosRankSum=0.373;SOR=0.340	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1334	20	0	1	0
chr1	205526105	205526105	C	T	exonic	CDK18	.	nonsynonymous SNV	CDK18:NM_002596:exon6:c.C497T:p.T166M	.	.	8	1479	32	3	0	38	0.0126836	.	.	2815999	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.979	D	0.000	D	1.000	D	3.61	H	0.61	T	0.075	D	0.406	T	0.896	4.766	26.7	4.78	2.194	7.788	16.4	0.627	.	0.0033	0.00279553	0.0041	0.0003	0.0019	0	0.0012	0.0052	0.0096	0.0070	0.0038227	591	154602	rs17850752	0.0045	0.0045	0.0043	0.0047	0.0139	0.0045	0.0044	0.0114	0.0105	0.0008	0.0029	0.0228	5.038e-05	0.0009	0.0139	0.0043	0.0068	0.0070	0.0034	0.0034	0.0037	0.0031	0.0101	0.0032	0.0031	0.0079	0.0071	0.0011	0	0.0022	0.0225	0	0.0003	0.0102	0.0044	0.0019	0.0101	0.016	0.51853	D	0.03	0.92824	D	0.999	0.77913	D	0.965	0.71173	D	0.000000	0.84330	D	0.051490	1	0.81001	D	.	.	.	0.61	0.53516	T	-5.69	0.88224	D	0.878	0.87590	0.075	0.83721	D	0.406	0.75621	T	10	0.012561977	0.00269	T	.	.	.	0.627	0.85615	.	.	0.62009270483	0.61701	0.6702756738008796	0.66965	0.726517213602	0.62515	0.851342618465	0.89817	D	0.094007	0.63036	T	-0.0112464	0.50091	T	0.214655	0.83904	D	0.221596494317055	0.21543	T	0.966303	0.87634	D	0.5096678	0.67660	0.4107012	0.65323	0.5096678	0.67661	0.4107012	0.65323	-11.355	0.82595	D	.	.	0.722	0.84501	P	.;.;.;.;.	.;.;.;.;.	5.552450	0.92063	32	0.99923435466855648	0.98917	0.97868	0.77733	D	AEFBI	0.954994	0.97250	D	0.906367927603744	0.92068	11.21586	0.814072466696038	0.90753	10.55341	0.999999999998759	0.74766	0.732398	0.92422	0	0.627178	0.54094	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	4.78	4.78	0.60666	7.897000	0.85944	7.677000	0.65097	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	16.4	0.83475	809	0.43032	Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	954.98	40	chr1	205526105	.	C	T	954.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.84;DP=790;ExcessHet=0.0000;FS=9.094;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=0.022;SOR=1.516	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1224	20	0	1	0
chr1	205529360	205529360	C	A	exonic	CDK18	.	nonsynonymous SNV	CDK18:NM_002596:exon12:c.C1109A:p.A370D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.074	B	0.102	B	0.579	N	1.000	N	-0.43	N	-0.15	T	-0.966	T	0.107	T	0.285	2.102	12.98	2.83	0.523	2.778	8.85	0.083	0.0451314838582	.	0.000199681	3.322e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs577095057	3.079e-05	3.078e-05	6.807e-06	5.501e-05	0.0005	2.347e-05	2.095e-05	0.0004	0.0004	0	0	0	0	0	0	0	0	0.0005	6.564e-06	6.561e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.122	0.30097	T	0.148	0.32675	T	0.074	0.24142	B	0.098	0.30479	B	0.579311	0.11159	N	0.827778	1	0.08975	N	.	.	.	-0.15	0.65192	T	-0.76	0.21215	N	0.369	0.46086	-0.9657	0.38073	T	0.107	0.39051	T	10	0.063385785	0.08250	T	0.045131	0.61833	D	0.083	0.24192	.	.	0.501371821861	0.49774	0.5591735980184913	0.55844	0.309982219948	0.33310	0.512490212917	0.40570	T	.	.	.	-0.343423	0.05154	T	-0.403119	0.33023	T	0.0500720121066967	0.05513	T	0.932307	0.74741	D	0.06906277	0.15101	0.17627077	0.40149	0.06906277	0.15100	0.17627077	0.40148	-6.061	0.46786	T	.	.	0.140	0.34970	B	.;.;.	.;.;.	2.365898	0.30352	18.41	0.98265403213781211	0.39703	0.12619	0.17379	N	AEFDGBHCI	0.336891	0.43487	N	-0.769828088355173	0.14101	0.6997196	-0.704732439102134	0.16843	0.8928961	0.999999999049338	0.74766	0.764865	0.99124	0	0.628146	0.54582	0	0.749866	0.98131	0	0.554799	0.18163	0	.	.	4.74	2.83	0.32150	2.860000	0.48071	2.191000	0.31208	-0.217000	0.08171	0.458000	0.26628	0.065000	0.22112	0.036000	0.13842	0.0:0.7644:0.1515:0.0842	8.85	0.34353	809	0.43032	Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2523.98	37	chr1	205529360	.	C	A	2523.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.776e+00;DP=911;ExcessHet=0.0000;FS=2.652;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=-1.040e-01;SOR=0.507	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1286	20	0	1	0
chr1	205579938	205579938	G	A	exonic	MFSD4A	.	nonsynonymous SNV	MFSD4A:NM_181644:exon2:c.G418A:p.V140I,	.	.	.	.	.	.	.	.	.	.	.	2281705	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.23	T	0.021	B	0.013	B	0.045	N	0.999	N	0.18	N	0.38	T	-0.958	T	0.203	T	0.089	-0.120	3.412	-1.95	-0.671	-0.203	5.835	0.061	0.00919647144631	.	.	7.662e-05	0	0.0006	0	0	0	0	0.0001	7.76e-05	12	154602	rs780784780	4.039e-05	4.036e-05	4.085e-05	3.991e-05	0.0005	3.181e-05	2.912e-05	0.0003	0.0003	2.987e-05	0.0005	3.83e-05	0	0	0	2.34e-05	4.971e-05	8.118e-05	6.571e-05	6.567e-05	6.423e-05	6.726e-05	0.0002	3.517e-05	2.616e-05	2.847e-05	1.858e-05	4.825e-05	0	0.0001	0	0	0	0	7.351e-05	0	0.0002	0.665	0.04629	T	0.664	0.11515	T	0.021	0.18474	B	0.013	0.16460	B	0.045245	0.23556	N	0.472558	0.999406	0.21245	N	.	.	.	0.38	0.57575	T	-0.44	0.14588	N	0.107	0.16447	-0.9578	0.39589	T	0.203	0.56087	T	10	0.033946753	0.01586	T	0.009196	0.24177	T	0.061	0.17616	.	.	0.24896430686	0.24499	0.18633780903888286	0.18551	0.372636218352	0.38753	0.262227237225	0.05158	T	0.043664	0.44271	T	-0.506546	0.00525	T	-0.624846	0.10808	T	0.00844687713013806	0.00102	T	0.870113	0.57479	D	0.022797734	0.00969	0.027030488	0.00827	0.022797734	0.00969	0.027030488	0.00827	-2.831	0.08472	T	.	.	0.063	0.06069	B	.;.;.;.;.	.;.;.;.;.	-0.283672	0.02689	0.349	0.83326405053252184	0.14664	0.06006	0.11970	N	AEFDGBI	0.079936	0.16154	N	-1.11040323228583	0.06457	0.2973034	-1.13266729105218	0.07083	0.3432285	0.997771109025215	0.36014	0.497415	0.19182	0	0.59043	0.45803	0	0.607795	0.38427	0	0.530356	0.10902	0	.	.	4.18	-1.95	0.07135	-0.182000	0.09720	-0.650000	0.08033	0.665000	0.62972	0.001000	0.13787	0.000000	0.08366	0.523000	0.29544	0.6139:0.0:0.2334:0.1527	5.835	0.17858	676	0.60355	Major facilitator superfamily domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1097.98	38	chr1	205579938	.	G	A	1097.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.449;DP=778;ExcessHet=0.0000;FS=2.027;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.08;ReadPosRankSum=-2.660e-01;SOR=1.077	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1370	20	0	1	0
chr1	205580805	205580805	G	A	exonic	MFSD4A	.	nonsynonymous SNV	MFSD4A:NM_181644:exon3:c.G574A:p.G192S,	.	.	427	1085	10	0	0	10	0.00458716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.011	B	0.011	B	0.534	N	1.000	N	0	N	1.95	T	-0.968	T	0.004	T	0.142	0.762	8.034	1.75	0.663	0.620	7.306	0.024	.	0.0007	0.0211661	0.0118	0.0012	0.0636	0.0247	0	0.0009	0.0077	0.0247	0.0116169	1796	154602	rs146109722	0.0046	0.0046	0.0043	0.0049	0.0643	0.0045	0.0044	0.0623	0.0615	0.0007	0.0643	0.0090	0.0223	0	0.0026	0.0002	0.0072	0.0229	0.0082	0.0083	0.0067	0.0098	0.0538	0.0079	0.0077	0.0508	0.0496	0.0016	0	0.0538	0.0127	0.0254	0	0.0068	0.0005	0.0095	0.0282	0.758	0.03502	T	0.802	0.04431	T	0.002	0.15914	B	0.011	0.15521	B	0.533931	0.11608	N	0.823047	0.999998	0.58761	D	.	.	.	1.94	0.22678	T	0.5	0.02945	N	0.033	0.04188	-0.9678	0.37652	T	0.004	0.01295	T	10	0.001856327	0.00025	T	.	.	.	0.024	0.04979	.	.	.	.	0.43747557879175863	0.43664	0.440170072051	0.44032	0.267308205366	0.05792	T	0.02633	0.43997	T	-0.629407	0.00096	T	-0.629762	0.10433	T	0.00242273152368404	0.00025	T	0.706729	0.31713	T	0.034399476	0.03852	0.051730637	0.08382	0.034399476	0.03852	0.051730637	0.08382	-2.892	0.09064	T	.	.	0.070	0.11027	B	.;.;.;.	.;.;.;.	1.639639	0.20925	14.97	0.89235622399323533	0.18624	0.82127	0.41403	D	AEFDGBI	0.164995	0.29144	N	-0.600478964880561	0.18930	0.9867911	-0.420479511028924	0.24397	1.335719	0.99992813454296	0.46280	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	4.67	1.75	0.23707	1.005000	0.29436	3.682000	0.39470	0.665000	0.62972	0.991000	0.37257	1.000000	0.68203	0.881000	0.42162	0.3059:0.0:0.6941:0.0	7.306	0.25624	672	0.60758	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2340.98	35	chr1	205580805	.	G	A	2340.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.829;DP=919;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=0.191;SOR=0.654	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr1	205620327	205620327	G	A	exonic	ELK4	.	nonsynonymous SNV	ELK4:NM_001973:exon3:c.C719T:p.T240I	.	.	428	1090	4	0	0	4	0.0018315	.	.	3238940	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.0	B	0.001	B	0.458	N	1.000	N	0	N	1.74	T	-1.002	T	0.039	T	0.02	-0.019	3.916	-0.806	-0.161	0.461	6.300	0.027	0.00485244182574	0.0002	.	0.0002	0	8.637e-05	0	0	0.0003	0	6.056e-05	0.0001811	28	154602	rs146453123	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	0.0001	0.0005	0.0003	0	4.472e-05	0.0049	2.519e-05	0	0.0010	4.137e-05	0.0004	0.0002	0.0002	0.0002	0.0002	0.0001	8.82e-05	0.0001	9.694e-05	3.762e-05	2.575e-05	0	0	6.535e-05	0.0043	0	0	0.0068	8.82e-05	0.0005	0	0.066	0.49613	T	0.2	0.46632	T	0.0	0.02946	B	0.0	0.04355	B	0.458014	0.04852	N	1.272640	1	0.08975	N	1.5	0.37844	L	1.74	0.31731	T	-1.28	0.32185	N	0.028	0.00618	-1.0018	0.29401	T	0.039	0.16978	T	10	0.0050910413	0.00110	T	0.004852	0.12161	T	0.027	0.05988	.	.	0.224531998449	0.22054	0.18705025350684212	0.18623	0.14465064476	0.16340	.	.	.	0.33817	0.70746	T	-0.555061	0.00272	T	-0.742935	0.03768	T	0.0195704961100207	0.00660	T	0.486851	0.16939	T	0.030451909	0.02712	0.047192045	0.06744	0.030451909	0.02712	0.047192045	0.06744	-3.937	0.22858	T	.	.	0.075	0.10159	B	.;.	.;.	0.937911	0.13134	9.636	0.94497110314111188	0.24967	0.11866	0.16912	N	AEFBI	0.062387	0.11989	N	-1.18915013707969	0.05163	0.2347327	-1.1800873126502	0.06243	0.2998965	0.795611876203697	0.24093	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	-0.806	0.10327	1.501000	0.35301	3.327000	0.37595	-0.153000	0.12021	0.004000	0.16614	0.437000	0.24884	0.074000	0.16894	0.2547:0.3465:0.3988:0.0	6.300	0.20315	730	0.54327	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1370.98	36	chr1	205620327	.	G	A	1370.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.39;ReadPosRankSum=0.106;SOR=0.701	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1179	20	0	1	0
chr1	205663060	205663060	C	A	exonic	SLC45A3	.	nonsynonymous SNV	SLC45A3:NM_033102:exon3:c.G731T:p.C244F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.0	B	0.0	B	0.001	D	0.995	D	1.295	L	0.89	T	-1.051	T	0.097	T	0.167	-0.028	3.872	5.39	2.517	3.256	14.482	0.084	0.0234133055203	.	.	.	.	.	.	.	.	.	.	.	.	.	rs938014311	6.872e-07	2.052e-06	1.366e-06	0	2.251e-05	0	0	.	.	0	2.251e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.11659	T	0.325	0.18846	T	0.0	0.02946	B	0.0	0.01387	B	0.000545	0.43413	D	0.318283	0.995198	0.42584	D	-0.605	0.02211	N	0.89	0.45636	T	0.55	0.02721	N	0.174	0.18649	-1.0509	0.14147	T	0.097	0.36496	T	10	0.09066236	0.15813	T	0.023413	0.46369	T	0.084	0.24469	0.326	0.30873	0.0666544352282	0.05500	0.5881018317321155	0.58740	0.545184907824	0.51560	0.563336849213	0.47739	T	0.060393	0.31374	T	-0.22333	0.17540	T	-0.558574	0.16511	T	0.519872665405273	0.33360	D	0.618638	0.23716	T	0.110302806	0.26072	0.124481924	0.30003	0.110302806	0.26072	0.124481924	0.30003	-5.009	0.36938	T	.	.	0.088	0.11461	B	.	.	2.169436	0.27642	17.53	0.65331814721806047	0.07742	0.78238	0.38570	D	AEFDBI	0.302969	0.41106	N	-0.350811834062246	0.27241	1.493086	-0.285343693865238	0.28581	1.594681	0.999999999664476	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.662433	0.64102	0	.	.	5.39	5.39	0.77615	2.801000	0.47603	7.623000	0.62394	0.596000	0.33519	0.975000	0.34726	1.000000	0.68203	0.007000	0.07825	0.1476:0.8524:0.0:0.0	14.482	0.67169	686	0.59327	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	288.98	33	chr1	205663060	.	C	A	288.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.194;DP=765;ExcessHet=0.0000;FS=2.952;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.42;ReadPosRankSum=-1.250e-01;SOR=1.426	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1263	20	0	1	0
chr1	205915010	205915010	C	T	exonic	SLC26A9	.	nonsynonymous SNV	SLC26A9:NM_134325:exon22:c.G2546A:p.R849Q,	.	.	419	1023	79	1	0	81	0.0380818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.947	P	0.199	B	0.000	N	1.000	N	0	N	-3.25	D	-0.322	T	0.403	T	0.061	1.529	11.06	2.76	0.334	-0.025	12.608	0.300	.	0.0039	0.00758786	0.0076	0.0012	0.0028	0.0122	0.0011	0.0057	0.0066	0.0228	0.0072315	1118	154602	rs140760240	0.0060	0.0060	0.0053	0.0066	0.0283	0.0058	0.0058	0.0247	0.0234	0.0013	0.0038	0.0086	0.0104	0.0009	0.0283	0.0047	0.0069	0.0228	0.0046	0.0046	0.0046	0.0047	0.0155	0.0044	0.0042	0.0127	0.0117	0.0013	0	0.0041	0.0087	0.0133	0.0004	0.0102	0.0059	0.0047	0.0155	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	0.000003	0.00162	N	14.346700	1	0.08975	N	.	.	.	-3.25	0.93532	D	0.0	0.07008	N	0.071	0.04426	-0.3220	0.74366	T	0.403	0.75338	T	10	0.0027073324	0.00042	T	.	.	.	0.300	0.62068	.	.	0.194818534648	0.19098	0.01893306541877592	0.01847	0.157990632338	0.17844	0.204608500004	0.00603	T	.	.	.	-0.420421	0.01699	T	-0.359096	0.38158	T	0.0319549881320626	0.02299	T	0.394461	0.09873	T	.	.	.	.	.	.	.	.	-2.854	0.08691	T	.	.	0.086	0.10931	B	.;.	.;.	0.554397	0.09227	6.012	0.63638908723729615	0.07277	0.03938	0.09333	N	AEFGBI	0.081607	0.16514	N	-1.3979216659568	0.02658	0.1176788	-1.38142597711257	0.03449	0.1609509	0.992175131580337	0.32745	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.59	2.76	0.31527	0.003000	0.12984	0.330000	0.17274	-1.718000	0.00733	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.9104:0.0:0.0896	12.608	0.55889	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	8152.68	35	chr1	205915010	.	C	T	8152.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.648;DP=1511;ExcessHet=0.3300;FS=1.100;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=-3.760e-01;SOR=0.697	GT:AD:DP:GQ:PL	0/0:125,0:125:99:0,120,1800	18	0	3	0
chr1	205918866	205918866	C	T	exonic	SLC26A9	.	nonsynonymous SNV	SLC26A9:NM_052934:exon19:c.G2230A:p.V744M	.	.	421	1068	33	0	0	33	0.0152144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.958	D	0.288	B	0.159	N	1.000	N	0.695	N	-3.13	D	-0.033	T	0.631	D	0.12	1.411	10.65	5.09	2.512	2.596	16.650	0.218	.	0.0012	0.00359425	0.0033	0.0002	0.0024	0.0009	0.0002	0.0022	0.0011	0.0132	0.0030271	468	154602	rs3811428	0.0022	0.0022	0.0017	0.0028	0.0165	0.0022	0.0022	0.0138	0.0134	0.0003	0.0019	0.0014	0.0019	7.489e-05	0.0165	0.0014	0.0033	0.0143	0.0014	0.0014	0.0012	0.0017	0.0141	0.0013	0.0012	0.0114	0.0104	0.0003	0	0.0012	0.0003	0.0008	0	0.0102	0.0015	0.0028	0.0141	0.026	0.46910	D	0.035	0.52389	D	0.958	0.54977	D	0.212	0.37394	B	0.158721	0.17732	N	0.532850	1	0.08975	N	0.345	0.11182	N	-3.19	0.93170	D	-0.38	0.13418	N	0.121	0.11626	-0.0334	0.81558	T	0.631	0.87058	D	10	0.004286289	0.00086	T	.	.	.	0.218	0.51265	.	.	0.463758542814	0.46003	0.2079003846332552	0.20706	0.316868486577	0.33939	0.359819203615	0.19359	T	0.048957	0.28168	T	-0.369372	0.03626	T	-0.291678	0.45598	T	0.0199713690935827	0.00698	T	0.610439	0.23144	T	0.04091638	0.05928	0.06968265	0.14711	0.04091638	0.05928	0.06968265	0.14710	-4.697	0.33367	T	.	.	0.085	0.15206	B	.;.;.	.;.;.	1.401607	0.18160	13.58	0.98484900196720704	0.42025	0.50306	0.28632	D	AEFGBCI	0.179596	0.30689	N	-0.191187549987939	0.33500	1.901282	-0.237078801735528	0.30219	1.699585	0.999999999805781	0.74766	0.533608	0.22052	0	0.615948	0.52940	0	0.547309	0.15389	0	0.638833	0.57524	0	.	.	5.09	5.09	0.68647	1.906000	0.39518	0.606000	0.19981	0.599000	0.40250	0.011000	0.18532	0.000000	0.08366	0.004000	0.06068	0.0:1.0:0.0:0.0	16.650	0.85044	847	0.35998	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2462.11	34	chr1	205918866	.	C	T	2462.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.431;DP=902;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.56;ReadPosRankSum=-1.600e+00;SOR=0.684	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	19	0	2	0
chr1	205935772	205935772	G	T	exonic	SLC26A9	.	nonsynonymous SNV	SLC26A9:NM_052934:exon2:c.C49A:p.L17I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.91	P	0.197	B	0.008	N	0.983	N	1.39	L	-3.05	D	-0.149	T	0.580	D	0.183	1.189	9.833	4.27	1.168	1.309	10.012	0.249	0.0326536197064	.	.	8.237e-06	0	8.639e-05	0	0	0	0	0	3.84e-05	1	26028	rs770847069	3.42e-06	3.42e-06	4.084e-06	2.75e-06	0.0002	1e-06	7.3e-07	1.779e-05	8.93e-06	0	6.709e-05	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.14546	T	0.139	0.33666	T	0.78	0.44271	P	0.123	0.32463	B	0.007833	0.31171	N	0.260996	0.983041	0.24916	N	1.87	0.49600	L	-3.08	0.92560	D	-0.17	0.09627	N	0.304	0.34336	-0.1492	0.78935	T	0.580	0.84889	D	10	0.1719876	0.31947	T	0.032654	0.54424	D	0.249	0.55752	0.315	0.29096	0.499793596984	0.49617	0.4264630753259335	0.42563	0.179228908235	0.20168	0.630973577499	0.57283	T	0.063265	0.32132	T	-0.125116	0.32289	T	-0.220525	0.52687	T	0.284771531820297	0.24371	T	0.876112	0.58827	D	0.20660071	0.42840	0.15496711	0.36346	0.20660071	0.42840	0.15496711	0.36346	-7.405	0.58408	T	.	.	0.092	0.19679	B	.;.;.	.;.;.	2.332186	0.29874	18.26	0.89546034043563505	0.18890	0.52039	0.29037	D	AEFDGBCI	0.081180	0.16424	N	0.122768522892438	0.47528	2.977135	0.179326506444989	0.48715	3.083764	0.999919959881184	0.45857	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.21	4.27	0.50009	1.405000	0.34243	7.599000	0.61500	0.676000	0.76740	0.938000	0.32564	1.000000	0.68203	0.883000	0.42306	0.0:0.3882:0.4747:0.137	10.012	0.41164	.	.	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	579.98	33	chr1	205935772	.	G	T	579.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.690e-01;DP=765;ExcessHet=0.0000;FS=2.108;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.66;ReadPosRankSum=-7.000e-03;SOR=0.755	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1272	20	0	1	0
chr1	206010341	206010341	C	T	exonic	CTSE	.	nonsynonymous SNV	CTSE:NM_001910:exon9:c.G1033A:p.V345M,	.	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.006	B	0.002	B	0.228	N	1.000	N	0	N	0.4	T	-1.071	T	0.069	T	0.094	0.363	5.972	4.05	1.421	0.742	3.621	0.088	0.00438121497209	.	.	.	.	.	.	.	.	.	.	.	.	.	rs145069780	0.0027	0.0027	0.0027	0.0026	0.0032	0.0026	0.0026	0.0031	0.0031	0.0004	0.0007	0.0003	0.0005	0.0002	0	0.0032	0.0019	0.0019	0.0013	0.0013	0.0013	0.0012	0.0021	0.0011	0.0011	0.0018	0.0017	0.0003	0	0.0011	0.0003	0.0006	0.0004	0	0.0021	0.0014	0.0015	0.07	0.35349	T	0.106	0.37872	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	0.57575	T	0.17	0.05125	N	0.145	0.14622	.	.	.	.	.	.	.	0.04523146	0.03569	T	.	.	.	.	.	.	.	.	.	0.7419575988196351	0.74141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.633837	0.24812	T	.	.	.	.	.	.	.	.	-4.205	0.26824	T	.	.	0.132	0.28406	B	.	.	2.436677	0.31353	18.72	.	.	.	.	.	.	0.040683	0.06085	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432000	0.21180	1.230000	0.25036	0.519000	0.23678	0.000000	0.06391	0.002000	0.18203	0.681000	0.33571	.	.	.	.	.	Peptidase family A1 domain|Peptidase family A1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1072.98	38	chr1	206010341	.	C	T	1072.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.070e-01;DP=793;ExcessHet=0.0000;FS=0.802;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.41;ReadPosRankSum=0.893;SOR=0.857	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1197	20	0	1	0
chr1	206022972	206022972	C	T	exonic	CTSE	.	nonsynonymous SNV	CTSE:NM_001910:exon2:c.G154A:p.D52N	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.998	D	0.935	D	0.004	N	1.000	D	1.81	L	0.73	T	-0.791	T	0.238	T	0.662	1.310	10.29	2.5	0.603	4.022	10.245	0.197	0.00248946556863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.535e-06	7.525e-06	6.814e-06	8.263e-06	0.0002	4.04e-06	2.96e-06	3.81e-06	2.76e-06	0	0	0	0	0	0.0002	8.102e-06	0	1.163e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.444	0.16619	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	0.54728	T	-1.1	0.37566	N	0.361	0.43706	.	.	.	.	.	.	.	0.24584544	0.41839	T	.	.	.	.	.	.	.	.	.	0.856838088411859	0.85646	.	.	.	.	.	0.133414	0.46408	T	.	.	.	.	.	.	.	.	.	0.657134	0.26688	T	.	.	.	.	.	.	.	.	-3.558	0.17253	T	.	.	0.099	0.43158	B	.;.	.;.	2.047833	0.26035	16.97	.	.	.	.	.	.	0.556265	0.56637	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.200000	0.42358	3.157000	0.36551	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.612000	0.31691	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	790.98	40	chr1	206022972	.	C	T	790.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.390;DP=762;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=0.744;SOR=0.646	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1037	20	0	1	0
chr1	206203947	206203947	T	C	exonic	FAM72A	.	nonsynonymous SNV	FAM72A:NM_001317901:exon1:c.A49G:p.R17G	.	.	913	596	6	7	0	20	0.0165017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782683246	0.0082	0.0078	0.0076	0.0089	0.0296	0.0081	0.0080	0.0252	0.0236	0.0012	0.0059	0.0119	0.0236	0.0149	0.0296	0.0063	0.0092	0.0239	0.0065	0.0067	0.0061	0.0071	0.0190	0.0062	0.0061	0.0157	0.0144	0.0012	0	0.0052	0.0095	0.0132	0.0139	0.0350	0.0074	0.0071	0.0190	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.23	0.36872	T	-0.06	0.07882	N	0.288	0.32591	.	.	.	.	.	.	.	0.00577268	0.00129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524448	0.17180	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.42706	B	.;.	.;.	0.716609	0.10854	7.533	.	.	.	.	.	.	0.053696	0.09698	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.236000	0.09019	-1.473000	0.05360	0.490000	0.22344	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	.	.	.	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	309.17	15	chr1	206203947	.	T	C	309.17	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.050e-01;DP=260;ExcessHet=0.1072;FS=3.188;InbreedingCoeff=-0.0525;MLEAC=2;MLEAF=0.048;MQ=30.05;MQRankSum=-1.042e+00;QD=11.89;ReadPosRankSum=1.54;SOR=2.584	GT:AD:DP:GQ:PL	0/0:9,0:9:24:0,24,360	19	0	2	0
chr1	206507765	206507765	G	A	exonic	RASSF5	.	nonsynonymous SNV	RASSF5:NM_182663:exon1:c.G163A:p.G55R	.	.	419	1093	10	0	0	10	0.00455373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.032	B	0.006	B	0.031	N	0.998	N	0.695	N	3.05	T	-1.019	T	0.029	T	0.146	1.187	9.824	2.81	0.856	1.658	10.591	0.060	0.0709774793557	.	0.000798722	0.0062	0	0	0	.	0.0053	0	0.0070	0.0004657	72	154602	rs559841670	0.0005	0.0005	0.0004	0.0006	0.0068	0.0005	0.0005	0.0048	0.0041	4.076e-05	0.0003	0.0011	0	3.109e-05	0.0068	0.0003	0.0010	0.0039	0.0005	0.0005	0.0003	0.0007	0.0029	0.0004	0.0004	0.0018	0.0014	4.826e-05	0	0.0017	0.0009	0	0.0003	0.0205	0.0003	0.0009	0.0029	.	.	.	0.04	0.50809	D	0.007	0.20242	B	0.003	0.12133	B	0.031133	0.25211	N	0.247654	1	0.08975	N	0.805	0.20218	L	3.05	0.15028	T	.	.	.	0.126	0.14622	-1.0190	0.24041	T	0.029	0.12322	T	10	0.0072321594	0.00165	T	0.070977	0.71148	D	.	.	0.258	0.20002	0.344017737713	0.34012	0.4799395137607475	0.47913	.	.	0.880688548088	0.94053	D	0.061994	0.31798	T	-0.579632	0.00194	T	-0.603459	0.12523	T	0.0554501720190643	0.06433	T	0.786621	0.42528	T	0.068282165	0.14862	0.20474322	0.44611	0.068282165	0.14862	0.20474322	0.44610	-3.312	0.13893	T	.	.	0.142	0.31304	B	.;.;.	.;.;.	2.168501	0.27635	17.53	0.97309312689330918	0.33318	0.49772	0.28510	N	AEFDBHCI	0.038566	0.05478	N	-0.660024206835807	0.17169	0.8811781	-0.640150421164478	0.18466	0.9865569	0.999999967001659	0.74766	0.437478	0.07067	0	0.552344	0.17405	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.76	2.81	0.31971	1.698000	0.37413	0.000000	0.13247	0.368000	0.20244	0.978000	0.35038	0.184000	0.23444	0.059000	0.15899	0.0:0.197:0.803:0.0	10.591	0.44502	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	244.98	34	chr1	206507765	.	G	A	244.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.86;DP=539;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.80;ReadPosRankSum=2.11;SOR=0.582	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr1	206508042	206508042	A	C	exonic	RASSF5	.	nonsynonymous SNV	RASSF5:NM_182663:exon1:c.A440C:p.Q147P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.699	P	0.511	P	0.670	U	1.000	D	1.87	L	-3.38	D	0.155	D	0.728	D	0.493	1.417	10.68	-0.201	0.076	0.112	3.231	0.541	0.752188841457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.929e-07	1.368e-06	0	1.624e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.944e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.64786	D	0.269	0.37313	B	0.511	0.47948	P	0.670418	0.10347	U	0.817593	0.971895	0.25629	N	2.8	0.81625	M	-3.38	0.94161	D	.	.	.	0.25	0.31925	0.155	0.85140	D	0.728	0.90705	D	10	0.37317842	0.53632	T	0.752189	0.98025	D	.	.	0.621	0.75576	0.889688261097	0.88860	0.827549728375985	0.82712	.	.	0.718355178833	0.69806	T	0.688358	0.90915	D	0.148489	0.69127	D	-0.0244823	0.68734	D	0.339617788791656	0.26609	T	0.650435	0.26315	T	0.19907956	0.41834	0.2580276	0.51529	0.19907956	0.41834	0.2580276	0.51528	-4.019	0.24087	T	.	.	0.074	0.12607	B	.;.;.	.;.;.	2.731929	0.35759	19.98	0.93156421640526876	0.22806	0.28008	0.23436	N	AEFDBCIJ	0.107036	0.21338	N	-0.278517039572624	0.29978	1.667418	-0.312930943217013	0.27681	1.537716	0.999940843987765	0.47345	0.443343	0.08805	1	0.552344	0.17405	0	0.666236	0.60216	0	0.554799	0.18163	0	.	.	3.61	-0.201	0.12563	0.119000	0.15456	-0.075000	0.12249	0.410000	0.20643	0.996000	0.39380	0.016000	0.20520	0.863000	0.40966	0.4108:0.2331:0.3561:0.0	3.231	0.06348	906	0.23090	Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain;.;Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	512.98	36	chr1	206508042	.	A	C	512.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.547e+00;DP=747;ExcessHet=0.0000;FS=2.729;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=0.416;SOR=1.329	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1095	20	0	1	0
chr1	206508051	206508051	-	CTGCA	exonic	RASSF5	.	frameshift insertion	RASSF5:NM_182663:exon1:c.449_450insCTGCA:p.N153Afs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.004e-07	6.84e-07	0	1.643e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.959e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	666.94	36	chr1	206508051	.	G	GCTGCA	666.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.407;DP=749;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.53;ReadPosRankSum=0.665;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1095	20	0	1	0
chr1	206602348	206602348	A	G	exonic	EIF2D	.	nonsynonymous SNV	EIF2D:NM_006893:exon7:c.T890C:p.M297T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.262	B	0.185	B	0.000	D	1.000	D	2.165	M	1.01	T	-0.939	T	0.147	T	0.895	3.518	17.97	6.11	2.343	9.258	15.537	0.321	0.0254836537021	.	.	1.651e-05	9.621e-05	0	0	0	0	0.0011	0	1.29e-05	2	154602	rs782336121	6.157e-06	6.156e-06	8.168e-06	4.125e-06	2.319e-05	2.9e-06	2.1e-06	3.85e-06	1.68e-06	0	0	0	0	0	0	6.295e-06	0	2.319e-05	6.57e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.021	0.72154	D	0.004	0.74150	D	0.262	0.31549	B	0.185	0.36047	B	0.000000	0.84330	D	0.071281	1	0.81001	D	3.03	0.86425	M	1.01	0.41058	T	-3.79	0.71639	D	0.862	0.85872	-0.9385	0.42853	T	0.147	0.47273	T	10	0.5766017	0.65615	D	0.025484	0.48457	D	0.321	0.64318	0.37	0.38013	0.515375173082	0.51181	0.7088566314953528	0.70827	0.41665024781	0.42305	0.678465843201	0.64049	T	0.282421	0.65516	T	0.152489	0.69500	D	0.162791	0.80978	D	0.67084594374847	0.39375	D	0.879112	0.59504	D	0.5093748	0.67643	0.42215678	0.66126	0.5093748	0.67644	0.42215678	0.66126	-11.673	0.83222	D	.	.	0.638	0.70430	P	.;.	.;.	4.008235	0.59116	24.1	0.98731049523024128	0.45348	0.99828	0.99720	D	AEFDBI	0.911421	0.87068	D	0.398874041758966	0.61362	4.336171	0.539219128377151	0.70650	5.536623	0.999999999999013	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.11	6.11	0.99132	9.270000	0.94909	11.213000	0.89472	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.537	0.75751	643	0.63827	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	833.98	33	chr1	206602348	.	A	G	833.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.682;DP=778;ExcessHet=0.0000;FS=0.870;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=-3.000e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr1	206685381	206685381	G	T	exonic	MAPKAPK2	.	nonsynonymous SNV	MAPKAPK2:NM_004759:exon1:c.G152T:p.G51V	.	.	256	1256	10	0	0	10	0.00396511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.989	D	0.68	P	.	.	1.000	D	0	N	-0.33	T	-0.985	T	0.153	T	0.063	2.513	14.36	2.36	0.546	0.225	9.126	0.127	.	0.0002	0.0279553	0.0136	0	0.0005	0.0001	0	0.0001	0.0024	0.0981	0.0112353	1737	154602	rs146073998	0.0055	0.0055	0.0031	0.0079	0.0857	0.0054	0.0053	0.0840	0.0833	0.0003	0.0001	0	3.245e-05	0	0.0029	0.0001	0.0070	0.0857	0.0033	0.0032	0.0018	0.0048	0.0976	0.0030	0.0029	0.0904	0.0875	0.0002	0	0	0	0	0	0	8.946e-05	0.0005	0.0976	0.06	0.37326	T	0.071	0.47097	T	0.984	0.62824	D	0.68	0.53472	P	.	.	.	.	0.999989	0.54805	D	0.345	0.11182	N	-0.33	0.68754	T	-0.68	0.19509	N	0.041	0.01421	-0.9847	0.33903	T	0.153	0.48222	T	9	0.0013119876	0.00014	T	.	.	.	0.127	0.34888	.	.	.	.	0.175511379790726	0.17470	1.36617559106	0.84444	0.868062615395	0.92291	D	0.130329	0.45915	T	-0.560288	0.00253	T	-0.509048	0.21412	T	0.036292017674448	0.03032	T	0.79922	0.44465	T	0.2844373	0.51471	0.13150962	0.31578	0.2844373	0.51471	0.13150962	0.31577	0.589	0.00195	T	.	.	0.124	0.26042	B	.;.	.;.	2.133326	0.27159	17.37	0.98488490128843242	0.42061	0.13210	0.17726	N	ALL	0.210308	0.33621	N	-0.469745816540533	0.23076	1.23667	-0.507541030825225	0.21948	1.189749	0.999999888101224	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.851219	0.99655	0	0.621717	0.48901	0	.	.	3.32	2.36	0.28258	0.160000	0.16278	5.140000	0.47705	0.523000	0.23987	0.016000	0.19238	1.000000	0.68203	0.948000	0.49324	0.0:0.4431:0.5569:0.0	9.126	0.35973	768	0.49510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1022.98	42	chr1	206685381	.	G	T	1022.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.346e+00;DP=810;ExcessHet=0.0000;FS=0.831;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=1.43;SOR=0.547	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1255	20	0	1	0
chr1	206866365	206866365	G	T	splicing	IL20	NM_001385166:exon4:c.225+1G>T;NM_001385167:exon5:c.225+1G>T;NM_001385165:exon3:c.225+1G>T;NM_018724:exon3:c.225+1G>T	.	.	.	.	424	1095	3	0	0	3	0.00136799	0.9999	0.948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.043	12.79	4.93	2.455	4.609	14.017	.	.	0.0007	0.000399361	0.0006	0.0002	0.0004	0	0	0.0009	0	0.0003	0.0005757	89	154602	rs138566326	0.0007	0.0007	0.0007	0.0007	0.0024	0.0007	0.0006	0.0015	0.0012	0.0002	0.0006	0.0056	0	9.36e-05	0.0024	0.0007	0.0010	0.0003	0.0005	0.0005	0.0005	0.0004	0.0006	0.0004	0.0004	0.0004	0.0004	0.0002	0	0.0003	0.0049	0	0	0	0.0006	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.108755	0.34975	T	-0.0240808	0.68760	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	6.291739	0.94957	34	0.99363331889252759	0.61113	0.86974	0.46379	D	ALL	.	.	.	0.958396634518162	0.94313	12.66179	0.756349683868702	0.86629	8.951457	0.999999999999984	0.74766	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.959397	0.65018	4.93	4.93	0.64394	5.062000	0.64156	11.522000	0.93050	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.600000	0.31387	0.0:0.0:1.0:0.0	14.017	0.64044	684	0.59539	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2069.98	38	chr1	206866365	.	G	T	2069.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.020e-01;DP=867;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.47;ReadPosRankSum=-1.620e-01;SOR=0.691	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1298	20	0	1	0
chr1	206937104	206937104	C	T	exonic	PIGR	.	nonsynonymous SNV	PIGR:NM_002644:exon4:c.G1036A:p.V346I,	.	.	417	1073	30	2	0	34	0.0155963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.959	D	0.344	B	0.000	N	0.646	D	1.915	M	2.3	T	-1.000	T	0.029	T	0.074	2.275	13.56	4.61	1.334	0.382	8.417	0.072	0.00933196404289	0.0043	0.00279553	0.0052	0.0016	0.0029	0.0002	0.0005	0.0074	0.0038	0.0045	0.0048318	747	154602	rs12748810	0.0052	0.0052	0.0051	0.0052	0.0107	0.0051	0.0050	0.0086	0.0078	0.0009	0.0038	0.0133	0.0001	0.0009	0.0107	0.0057	0.0052	0.0025	0.0040	0.0040	0.0041	0.0038	0.0059	0.0037	0.0036	0.0054	0.0052	0.0013	0.0319	0.0029	0.0118	0.0002	0.0005	0.0204	0.0059	0.0062	0.0021	0.172	0.22660	T	0.092	0.39954	T	0.959	0.55135	D	0.344	0.42549	B	0.000454	0.44317	N	0.098719	0.646236	0.32921	D	1.545	0.39105	L	2.3	0.16953	T	-0.58	0.17417	N	0.099	0.08088	-0.9996	0.30030	T	0.029	0.12409	T	10	0.005029261	0.00108	T	0.009332	0.24483	T	0.072	0.21020	.	.	0.189391138174	0.18552	0.4810212973730127	0.48022	0.426954359613	0.43058	0.376184433699	0.21714	T	0.174517	0.52377	T	-0.666129	0.00058	T	-0.724497	0.04581	T	0.0185711887291415	0.00572	T	0.661834	0.27067	T	0.091067985	0.21330	0.051946834	0.08461	0.091067985	0.21329	0.051946834	0.08461	-5.41	0.41016	T	.	.	0.082	0.08899	B	.	.	2.155181	0.27454	17.47	0.99591695879643904	0.73631	0.29423	0.23817	N	AEFBI	0.158394	0.28405	N	0.005644445633114	0.42111	2.531223	-0.0272485895640157	0.38489	2.268321	0.93774651646716	0.27311	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.52	4.61	0.56724	0.074000	0.14525	-0.668000	0.07948	0.599000	0.40250	0.028000	0.20300	0.000000	0.08366	0.750000	0.35786	0.0:0.8245:0.0:0.1755	8.417	0.31840	798	0.45050	Immunoglobulin subtype	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1227.98	38	chr1	206937104	.	C	T	1227.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.627;DP=854;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.28;ReadPosRankSum=-6.800e-01;SOR=0.793	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	20	0	1	0
chr1	207027504	207027504	C	T	exonic	C1orf116	.	nonsynonymous SNV	C1orf116:NM_023938:exon2:c.G95A:p.R32H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9	T	0.009	B	0.002	B	0.020	N	1.000	D	-0.49	N	3.18	T	-0.911	T	0.007	T	0.141	0.287	5.553	-0.786	-0.232	-1.053	5.002	0.097	0.00364214630594	7.7e-05	.	1.649e-05	0	0	0.0001	0	0	0	6.058e-05	1.29e-05	2	154602	rs148703566	2.189e-05	2.189e-05	2.178e-05	2.201e-05	0.0003	1.584e-05	1.356e-05	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	2.338e-05	4.967e-05	1.159e-05	1.972e-05	1.97e-05	3.856e-05	0	0.0002	5.24e-06	2.45e-06	8e-06	2.99e-06	4.828e-05	0	0	0	0.0002	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.020069	0.27119	N	0.435447	1	0.81001	D	.	.	.	3.18	0.07478	T	2.14	0.00347	N	0.193	0.21188	-0.9111	0.46719	T	0.007	0.02321	T	10	0.017047793	0.00362	T	0.003642	0.08371	T	0.097	0.27909	.	.	0.0138822411134	0.00435	0.0810618585779209	0.08041	0.0841997091574	0.09501	.	.	.	.	.	.	-0.43501	0.01384	T	-0.69351	0.06189	T	0.131795138120651	0.15547	T	0.620638	0.23835	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.01909	B	.	.	0.218483	0.06011	2.452	0.8438309909195999	0.15259	0.03272	0.08311	N	ALL	0.062733	0.12078	N	-1.01569633262292	0.08277	0.3875521	-0.872675789450181	0.12743	0.6572891	0.999999999999982	0.74766	0.713056	0.82018	0	0.563428	0.19063	0	0.608524	0.38960	0	0.542086	0.14980	0	.	.	5.63	-0.786	0.10394	-0.978000	0.03888	-1.575000	0.05138	-0.813000	0.03045	0.022000	0.19841	0.000000	0.08366	0.964000	0.52637	0.1468:0.258:0.0:0.5952	5.002	0.13613	784	0.47045	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	675.98	34	chr1	207027504	.	C	T	675.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.364;DP=761;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.26;ReadPosRankSum=1.49;SOR=0.749	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1256	20	0	1	0
chr1	207027530	207027530	-	T	exonic	C1orf116	.	frameshift insertion	C1orf116:NM_023938:exon2:c.68dupA:p.D23Efs*14,	.	.	399	1119	3	1	0	5	0.00222916	.	.	2816014	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0062	0.00319489	0.0054	0.0012	0.0016	0	0.0073	0.0083	0.0044	0.0012	0.00073	19	26028	rs201900436	0.0076	0.0076	0.0080	0.0072	0.0090	0.0075	0.0074	0.0089	0.0088	0.0011	0.0021	0.0012	0	0.0070	0.0021	0.0090	0.0068	0.0012	0.0059	0.0059	0.0063	0.0055	0.0090	0.0056	0.0055	0.0084	0.0082	0.0018	0	0.0076	0.0012	0	0.0075	0.0068	0.0090	0.0052	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1149.94	34	chr1	207027530	.	G	GT	1149.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.764;DP=789;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.36;ReadPosRankSum=-9.310e-01;SOR=0.671	GT:AD:DP:GQ:PL	0/1:54,39:93:99:1164,0,1743	20	0	1	0
chr1	207090439	207090439	A	G	exonic	C4BPB	.	nonsynonymous SNV	C4BPB:NM_000716:exon2:c.A190G:p.N64D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.057	B	0.059	B	0.444	N	1.000	N	0.51	N	-0.08	T	-1.007	T	0.116	T	0.056	1.945	12.46	1.85	0.124	0.502	6.758	0.094	0.0315794503235	.	.	8.255e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs756416947	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.331	0.13088	T	0.468	0.12351	T	0.051	0.22415	B	0.046	0.24676	B	0.443902	0.12592	N	0.714423	1	0.08975	N	1.21	0.30464	L	-0.08	0.63911	T	-1.97	0.46503	N	0.239	0.27910	-1.0072	0.27789	T	0.116	0.40964	T	10	0.09029123	0.15716	T	0.031579	0.53626	D	0.094	0.27141	0.538	0.64874	0.0611884634855	0.05136	0.5903499117951472	0.58964	0.200835374609	0.22483	0.36507743597	0.20123	T	0.088515	0.38176	T	-0.378231	0.03196	T	-0.599551	0.12850	T	0.0479790712517464	0.05141	T	0.542746	0.18485	T	0.08880148	0.20726	0.08216585	0.18731	0.08880148	0.20726	0.08216585	0.18731	-7.173	0.55288	T	.	.	0.147	0.32396	B	.;.;.;.;.	.;.;.;.;.	1.665917	0.21242	15.11	0.97423962996638069	0.33890	0.04686	0.10369	N	AEFDGBCI	0.575477	0.57785	D	-0.96080389219678	0.09452	0.4473689	-0.928815498369225	0.11416	0.5814384	0.999998698379259	0.74766	0.559995	0.30671	0	0.624146	0.53433	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.42	1.85	0.24418	0.496000	0.22207	2.987000	0.35864	0.756000	0.94297	0.002000	0.15269	0.710000	0.26286	0.560000	0.30412	0.7129:0.0:0.2871:0.0	6.758	0.22711	663	0.61610	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1089.98	33	chr1	207090439	.	A	G	1089.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.383e+00;DP=812;ExcessHet=0.0000;FS=0.690;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.16;ReadPosRankSum=-1.783e+00;SOR=0.616	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1182	20	0	1	0
chr1	207091722	207091722	C	T	exonic	C4BPB	.	nonsynonymous SNV	C4BPB:NM_000716:exon3:c.C311T:p.T104M	.	.	.	.	.	.	.	.	.	.	.	3291386	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.908	P	0.421	B	0.150	N	1.000	N	1.645	L	-0.17	T	-0.942	T	0.176	T	0.233	0.191	5.028	2.14	0.303	-0.017	6.348	0.085	0.0779206824085	.	.	3.296e-05	0	8.639e-05	0	0	4.497e-05	0	0	2.59e-05	4	154602	rs754303721	3.421e-05	3.42e-05	4.22e-05	2.613e-05	4.472e-05	2.632e-05	2.375e-05	2.743e-05	2.469e-05	0	4.472e-05	3.826e-05	0	0	0	3.688e-05	8.28e-05	1.159e-05	6.574e-05	6.568e-05	3.855e-05	9.422e-05	0.0001	3.518e-05	2.617e-05	6.804e-05	5.088e-05	2.414e-05	0	0	0	0	0	0	0.0001	0	0	0.232	0.19361	T	0.331	0.24767	T	0.752	0.43309	P	0.197	0.36707	B	0.149511	0.18015	N	0.512124	1	0.08975	N	1.705	0.44259	L	-0.17	0.65563	T	-1.21	0.42763	N	0.176	0.19055	-0.9422	0.42266	T	0.176	0.52053	T	10	0.22791088	0.39682	T	0.077921	0.72884	D	0.085	0.24743	.	.	0.156986980423	0.15292	0.36829338571981735	0.36743	0.286518005966	0.31048	0.339658558369	0.16387	T	0.110152	0.43050	T	-0.278758	0.10799	T	-0.44651	0.28083	T	0.118840329349041	0.14317	T	0.678032	0.28700	T	0.04186637	0.06245	0.072534904	0.15660	0.04186637	0.06244	0.072534904	0.15659	-6.729	0.52028	T	.	.	0.177	0.38747	B	.;.;.;.;.	.;.;.;.;.	1.591670	0.20356	14.71	0.82378380998165601	0.14161	0.04030	0.09467	N	AEFDGBHCI	0.550328	0.56285	D	-0.450241695920723	0.23731	1.276481	-0.570228759019482	0.20270	1.091373	0.99999999994351	0.74766	0.525926	0.21836	0	0.296712	0.05252	1	0.615948	0.41167	0	0.542086	0.14980	0	.	.	5.04	2.14	0.26518	-0.046000	0.11937	-0.298000	0.10137	0.549000	0.26987	0.010000	0.18352	0.000000	0.08366	0.398000	0.26737	0.0:0.6885:0.0:0.3115	6.348	0.20568	663	0.61610	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1781.98	33	chr1	207091722	.	C	T	1781.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.500e-02;DP=816;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.50;ReadPosRankSum=-2.940e-01;SOR=0.738	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1227	20	0	1	0
chr1	207470809	207470809	G	A	exonic	CR2	.	nonsynonymous SNV	CR2:NM_001006658:exon7:c.G1295A:p.G432E	Immunodeficiency, common variable, 7, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	1529158	Immunodeficiency,_common_variable,_7|CR2-related_disorder	MONDO:MONDO:0013862,MedGen:C3542922,OMIM:614699,Orphanet:1572|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	1.0	D	.	.	1.000	D	2.87	M	-0.65	T	0.228	D	0.561	D	0.937	2.943	15.81	4.57	2.473	4.484	13.601	0.721	0.0478423187467	.	.	0.0006	0	8.717e-05	0	0	1.501e-05	0.0011	0.0045	0.0004981	77	154602	rs781255614	0.0003	0.0003	0.0001	0.0005	0.0052	0.0003	0.0003	0.0048	0.0046	0	8.952e-05	0	0	0	0	0	0.0002	0.0052	0.0001	0.0001	6.426e-05	0.0002	0.0037	8.168e-05	6.724e-05	0.0024	0.0020	0	0	0	0	0	0	0	0	0.0005	0.0037	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.998916	0.58761	D	3.115	0.87836	M	-0.65	0.72237	T	-7.42	0.94814	D	0.779	0.78451	0.228	0.86377	D	0.561	0.84021	D	9	0.3242557	0.49752	T	0.047842	0.63107	D	0.721	0.90146	0.923	0.98673	0.918485591359	0.91766	0.8386965545119651	0.83829	0.786526509443	0.65546	0.487050294876	0.37030	T	0.559317	0.85220	D	0.0469999	0.57955	T	0.295689	0.87998	D	0.291459286039572	0.24650	T	0.891611	0.62654	D	0.7427749	0.80451	0.81015766	0.88910	0.7427749	0.80452	0.81015766	0.88910	-8.461	0.64171	D	.	.	0.249	0.48397	B	.;.;.	.;.;.	3.830964	0.55380	23.6	0.99734916495542936	0.83047	0.91612	0.53893	D	AEFBI	0.597851	0.59147	D	0.673554328408872	0.77899	6.764622	0.560725549717398	0.72148	5.764155	0.997386673999516	0.35561	0.732398	0.92422	0	0.743671	0.97443	0	0.653264	0.51672	0	0.542086	0.14980	0	.	.	4.57	4.57	0.55860	3.559000	0.53501	11.537000	0.93115	0.676000	0.76740	0.990000	0.36992	1.000000	0.68203	0.701000	0.34172	0.0:0.0:1.0:0.0	13.601	0.61483	808	0.43318	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1359.98	34	chr1	207470809	.	G	A	1359.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.91;DP=779;ExcessHet=0.0000;FS=0.742;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=1.42;SOR=0.583	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1224	20	0	1	0
chr1	207472858	207472858	A	C	exonic	CR2	.	nonsynonymous SNV	CR2:NM_001006658:exon10:c.A1657C:p.T553P	Immunodeficiency, common variable, 7, Autosomal recessive	YES	0	1518	4	0	0	4	0.00131579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.999	D	0.992	D	.	.	0.970	D	3.645	H	-0.18	T	0.422	D	0.533	D	0.68	2.155	13.16	5.75	2.195	2.203	12.454	0.170	0.0530018782561	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1282362435	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.61437	D	0.018	0.63918	D	0.999	0.77913	D	0.992	0.80445	D	.	.	.	.	0.970102	0.38774	D	3.55	0.93268	H	-0.18	0.65747	T	-3.75	0.74504	D	0.384	0.50056	0.422	0.89429	D	0.533	0.82704	D	9	0.616275	0.67723	D	0.053002	0.65297	D	0.450	0.75074	0.573	0.69695	0.898941663445	0.89793	0.7970443944825194	0.79657	0.768272729556	0.64638	0.380778610706	0.22367	T	0.584075	0.86425	D	0.0546687	0.58942	T	-0.0623946	0.66165	T	0.921129941940308	0.58062	D	0.705929	0.31637	T	0.6210581	0.73820	0.67675	0.81016	0.6210581	0.73821	0.67675	0.81017	-12.581	0.87565	D	.	.	0.235	0.55631	B	.;.;.	.;.;.	2.603545	0.33800	19.45	0.95228470884434446	0.26456	0.71691	0.35123	D	AEFBI	0.431529	0.49378	N	0.621729621380399	0.74551	6.151913	0.500178006453294	0.68004	5.160439	0.97477292502509	0.29572	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.542086	0.14980	0	.	.	5.75	5.75	0.90390	1.763000	0.38090	4.527000	0.43710	0.756000	0.94297	0.036000	0.20778	0.999000	0.35428	0.347000	0.25591	1.0:0.0:0.0:0.0	12.454	0.55031	808	0.43318	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1615.98	40	chr1	207472858	.	A	C	1615.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.37;DP=822;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=-7.660e-01;SOR=0.705	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1216	20	0	1	0
chr1	207478015	207478015	G	C	exonic	CR2	.	nonsynonymous SNV	CR2:NM_001877:exon15:c.G2856C:p.Q952H	Immunodeficiency, common variable, 7, Autosomal recessive	.	0	1509	13	0	0	13	0.00428901	.	.	246872	Immunodeficiency,_common_variable,_7|Systemic_lupus_erythematosus,_susceptibility_to,_9|not_specified|not_provided	MONDO:MONDO:0013862,MedGen:C3542922,OMIM:614699,Orphanet:1572|MONDO:MONDO:0012584,MedGen:C1970455,OMIM:610927|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.29	T	1.0	D	0.999	D	.	.	0.986	D	2.275	M	-0.05	T	-0.422	T	0.382	T	0.679	2.477	14.24	4.66	2.646	1.785	10.895	0.286	0.0227344264987	0.0002	0.000399361	0.0008	0	0.0003	0.0005	0	0.0004	0.0011	0.0035	0.000608	94	154602	rs200182370	0.0005	0.0005	0.0004	0.0007	0.0042	0.0005	0.0005	0.0038	0.0037	5.975e-05	0.0004	3.826e-05	0.0001	0	0.0019	0.0003	0.0006	0.0042	0.0003	0.0003	0.0003	0.0003	0.0031	0.0002	0.0002	0.0019	0.0015	9.618e-05	0	0.0003	0	0.0010	0	0.0034	0.0003	0.0009	0.0031	0.033	0.44358	D	0.006	0.70582	D	0.991	0.90584	D	0.955	0.92359	D	.	.	.	.	0.985922	0.40354	D	2.475	0.71894	M	-0.05	0.63403	T	-1.78	0.49352	N	0.236	0.31140	-0.4222	0.71319	T	0.382	0.73840	T	9	0.011888295	0.00258	T	0.022734	0.45655	T	0.286	0.60456	0.353	0.35246	0.767594840966	0.76547	0.5676258320700016	0.56690	0.649045781387	0.58229	0.316136151552	0.12835	T	0.165666	0.51160	T	-0.225147	0.17296	T	-0.0963286	0.63681	T	0.082086470118924	0.10252	T	0.771723	0.40231	T	0.114595704	0.27052	0.15140781	0.35667	0.12290315	0.28870	0.16528288	0.38243	-7.071	0.54797	T	.	.	0.297	0.52720	B	.;.;.	.;.;.	3.658751	0.51965	23.2	0.99714582748263758	0.81563	0.85679	0.44838	D	AEFBI	0.282822	0.39606	N	0.490871214019063	0.66556	4.965378	0.433754922745771	0.63681	4.606718	0.339752204421242	0.19571	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.530356	0.10902	0	.	.	5.59	4.66	0.57857	2.195000	0.42310	5.862000	0.50443	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.0894:0.0:0.9106:0.0	10.895	0.46226	812	0.42537	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1453.98	33	chr1	207478015	.	G	C	1453.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.543e+00;DP=795;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=0.219;SOR=0.749	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr1	207645252	207645252	C	T	exonic	CR1L	.	nonsynonymous SNV	CR1L:NM_175710:exon1:c.C19T:p.L7F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.068	B	0.014	B	.	.	1.000	N	0	N	1.48	T	-1.021	T	0.025	T	0.102	1.083	9.420	-4.67	-1.174	-0.323	0.177	0.117	0.00177697303275	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	1.362e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.14694	T	0.503	0.11078	T	0.068	0.23728	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.48	0.31731	T	-0.54	0.16598	N	0.101	0.08366	-1.0206	0.23519	T	0.025	0.10598	T	9	0.03777966	0.02153	T	0.001777	0.03037	T	0.117	0.32689	0.19	0.10039	0.0297737177859	0.01360	0.5466139326017481	0.54587	0.172625303199	0.19432	0.309144556522	0.11778	T	0.003658	0.03070	T	-0.326334	0.06392	T	-0.706533	0.05476	T	0.0669415516825664	0.08215	T	0.321368	0.06521	T	0.04423942	0.07037	0.047978878	0.07030	0.04423942	0.07036	0.047978878	0.07030	-5.687	0.43578	T	.	.	0.103	0.18331	B	.	.	0.331232	0.07050	3.617	0.83009026135481634	0.14493	0.06352	0.12351	N	AEFDGBHCI	0.063256	0.12212	N	-1.74411753676671	0.00697	0.03008603	-1.81828529166272	0.00702	0.03127977	0.99999999999993	0.74766	0.652421	0.48094	0	0.748881	0.99253	0	0.578056	0.29568	0	0.603991	0.37454	0	.	.	2.95	-4.67	0.03080	-0.319000	0.08080	-2.829000	0.03318	-1.024000	0.01719	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3094:0.228:0.1435:0.319	0.177	0.00110	706	0.57215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1277.98	34	chr1	207645252	.	C	T	1277.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.444;DP=795;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.36;ReadPosRankSum=0.290;SOR=0.638	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1317	20	0	1	0
chr1	207717539	207717539	G	A	exonic	CR1L	.	nonsynonymous SNV	CR1L:NM_175710:exon11:c.G1490A:p.G497E,	.	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.962	D	.	.	0.902	N	3.115	M	-0.65	T	-0.351	T	0.465	T	0.513	2.981	15.94	3.01	1.639	4.125	10.123	0.424	0.0240218992012	0.0028	0.000798722	0.0022	0.0003	0.0007	0	0.0008	0.0031	0.0022	0.0027	0.0021022	325	154602	rs186427145	0.0025	0.0025	0.0025	0.0025	0.0028	0.0024	0.0024	0.0027	0.0027	0.0002	0.0007	0.0028	2.519e-05	0.0010	0.0009	0.0028	0.0022	0.0026	0.0017	0.0017	0.0021	0.0014	0.0031	0.0015	0.0015	0.0028	0.0026	0.0003	0	0.0005	0.0023	0	0.0011	0	0.0031	0.0019	0.0017	0.003	0.68238	D	0.0	0.92824	D	0.998	0.73220	D	0.962	0.70672	D	.	.	.	.	0.901532	0.27690	N	3.365	0.91266	M	-0.65	0.72237	T	-5.48	0.85692	D	0.671	0.67908	-0.3510	0.73524	T	0.465	0.79340	T	9	0.060646117	0.07482	T	0.024022	0.47001	T	0.424	0.73226	.	.	0.542808479177	0.53935	0.256220782512593	0.25536	0.662919153663	0.59002	0.32508045435	0.14191	T	0.049615	0.28359	T	-0.259814	0.12921	T	-0.149659	0.59275	T	0.0453611331822632	0.04668	T	0.535446	0.17943	T	0.38793644	0.59885	0.36811057	0.62107	0.38793644	0.59886	0.36811057	0.62106	-11.068	0.80029	D	.	.	0.157	0.34624	B	.	.	3.402943	0.47165	22.4	0.99374803517158505	0.61628	0.88545	0.48522	D	AEFBI	0.231576	0.35478	N	0.415654329274182	0.62281	4.441589	0.22934265178221	0.51481	3.330362	0.00471475255160148	0.10684	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.01	3.01	0.33872	4.379000	0.59342	5.361000	0.48400	0.368000	0.20244	1.000000	0.71638	1.000000	0.68203	0.301000	0.24523	0.0:0.0:1.0:0.0	10.123	0.41804	884	0.28482	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2157.98	34	chr1	207717539	.	G	A	2157.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.040;DP=930;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.29;MQRankSum=3.78;QD=10.90;ReadPosRankSum=-8.570e-01;SOR=0.691	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr1	207889585	207889585	G	A	exonic	CD34	.	stopgain	CD34:NM_001025109:exon5:c.C634T:p.R212X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.906	N	1.000	A	.	.	.	.	.	.	.	.	.	4.786	26.9	2.12	0.622	1.233	7.031	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs753812536	5.815e-05	5.814e-05	6.534e-05	5.088e-05	0.0003	4.81e-05	4.431e-05	6.092e-05	4.966e-05	0	8.95e-05	0	0	0	0.0003	6.655e-05	3.312e-05	3.479e-05	1.972e-05	1.97e-05	1.285e-05	2.691e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.905932	0.08586	N	0.958584	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.805	0.82057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215566	0.75356	D	0.268841	0.86509	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	7.128813	0.96175	35	0.9885308229090729	0.47339	0.07757	0.13756	N	AEFDBCI	0.114530	0.22555	N	0.0607107291468517	0.44635	2.734084	-0.264946863421975	0.29262	1.637989	0.999968316161873	0.48965	0.730579	0.87903	0	0.547309	0.14657	0	0.618467	0.43123	0	0.648885	0.59868	0	.	.	5.38	2.12	0.26372	1.138000	0.31103	3.633000	0.39322	0.676000	0.76740	0.002000	0.15269	0.661000	0.26016	0.011000	0.09372	0.0:0.2998:0.4658:0.2345	7.031	0.24144	900	0.24599	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	924.98	33	chr1	207889585	.	G	A	924.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=787;ExcessHet=0.0000;FS=3.613;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.42;ReadPosRankSum=-2.690e-01;SOR=1.209	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1158	20	0	1	0
chr1	209626008	209626008	C	T	exonic	LAMB3	.	nonsynonymous SNV	LAMB3:NM_001017402:exon13:c.G1616A:p.R539Q	Amelogenesis imperfecta, type IA, Autosomal dominant;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive	.	0	1517	5	0	0	5	0.00164528	.	.	761518	LAMB3-related_disorder|not_provided|Inborn_genetic_diseases|Junctional_epidermolysis_bullosa	.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.51	T	0.377	B	0.05	B	0.000	D	0.826	N	0.235	N	0.1	T	-1.035	T	0.077	T	0.221	2.317	13.71	5.0	2.356	1.176	6.932	0.123	0.0354507522323	.	0.000599042	0.0005	0	0	0.0001	0	4.62e-05	0	0.0034	0.000401	62	154602	rs530692211	0.0003	0.0003	0.0002	0.0004	0.0033	0.0003	0.0003	0.0030	0.0028	5.978e-05	0	0	5.041e-05	0	0	0.0001	0.0002	0.0033	0.0001	0.0001	6.422e-05	0.0002	0.0035	9.736e-05	8.251e-05	0.0022	0.0018	2.405e-05	0	0	0	0	0	0	5.879e-05	0	0.0035	0.369	0.11586	T	0.381	0.15939	T	0.377	0.34270	B	0.05	0.25278	B	0.000042	0.53742	D	0.121442	0.825937	0.28822	N	0.47	0.13106	N	0.1	0.61326	T	-0.6	0.17834	N	0.119	0.11054	-1.0346	0.18983	T	0.077	0.30676	T	10	0.010803431	0.00239	T	0.035451	0.56350	D	0.123	0.34020	0.535	0.64439	0.788388627604	0.78642	0.28161148535121355	0.28074	0.134947152804	0.15209	0.453818291426	0.32466	T	0.050683	0.28666	T	-0.481517	0.00724	T	-0.466232	0.25924	T	0.0864944128708969	0.10796	T	0.660634	0.26999	T	0.06701003	0.14472	0.04915629	0.07453	0.07819125	0.17791	0.047008168	0.06676	-4.627	0.32509	T	0.16706502647149052	0.20809	0.077	0.06571	B	.;.;.	.;.;.	3.268191	0.44723	22.0	0.99677152801105606	0.78977	0.67818	0.33571	D	AEFDBCIJ	0.358221	0.44897	N	-0.231852097575016	0.31834	1.789019	-0.0565805151659125	0.37207	2.175386	0.999999936420308	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.0	5.0	0.66209	0.222000	0.17482	3.977000	0.40873	0.599000	0.40250	0.073000	0.22155	1.000000	0.68203	0.983000	0.59808	0.0:0.778:0.0:0.222	6.932	0.23625	949	0.11373	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1657.98	39	chr1	209626008	.	C	T	1657.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=1032;ExcessHet=0.0000;FS=2.165;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=0.314;SOR=0.523	GT:AD:DP:GQ:PL	0/0:88,0:88:99:0,120,1800	20	0	1	0
chr1	209634623	209634623	C	T	exonic	LAMB3	.	nonsynonymous SNV	LAMB3:NM_001017402:exon5:c.G388A:p.G130S	Amelogenesis imperfecta, type IA, Autosomal dominant;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	1879050	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.27	T	0.992	D	0.656	P	0.041	N	0.739	D	0.19	N	-1.16	T	-0.439	T	0.283	T	0.342	2.909	15.69	4.27	2.232	4.153	10.263	0.258	0.0701824915475	.	.	6.984e-05	0.0001	9.301e-05	0	0	0	0	0.0004	5.17e-05	8	154602	rs769334793	1.984e-05	1.984e-05	9.531e-06	3.026e-05	0.0003	1.392e-05	1.204e-05	0.0002	0.0002	0	0	0	0	0	0	2.698e-06	3.314e-05	0.0003	6.578e-06	6.568e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.162	0.35726	T	0.257	0.30045	T	0.992	0.64738	D	0.656	0.52685	P	0.040873	0.24011	N	0.434279	0.739315	0.33804	D	1.235	0.30780	L	-1.16	0.78082	T	-0.68	0.19509	N	0.379	0.42247	-0.4392	0.70757	T	0.283	0.65498	T	10	0.31334627	0.48786	T	0.070182	0.70933	D	0.258	0.56959	0.494	0.58206	0.86423548863	0.86292	0.5501809059484342	0.54944	0.507590868077	0.48939	0.360830128193	0.19507	T	0.15756	0.50021	T	-0.224705	0.17356	T	-0.244393	0.50368	T	0.23976357281208	0.22408	T	0.825817	0.51993	T	0.1420785	0.32711	0.13239014	0.31771	0.1420785	0.32711	0.13239014	0.31770	-4.667	0.33002	T	.	.	0.106	0.22609	B	.;.;.;.	.;.;.;.	3.975341	0.58407	24.0	0.99795636170021795	0.88106	0.90071	0.50965	D	AEFDBCI	0.640718	0.61831	D	0.198367332307597	0.51121	3.295888	0.229124585037969	0.51469	3.329246	0.999999859301751	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.27	4.27	0.50009	4.380000	0.59348	5.880000	0.50633	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.460000	0.28118	0.0:0.9079:0.0:0.0921	10.263	0.42618	937	0.14592	Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal;Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal;Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal;Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.04762	4741.13	34	chr1	209634623	.	C	T,A	4741.13	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=2.25;DP=909;ExcessHet=0.1072;FS=1.009;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=19.04;ReadPosRankSum=0.532;SOR=0.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0,0:33:99:.:.:0,99,1157,99,1157,1157	19	0	1	0
chr1	209634623	209634623	C	A	exonic	LAMB3	.	nonsynonymous SNV	LAMB3:NM_001017402:exon5:c.G388T:p.G130C	Amelogenesis imperfecta, type IA, Autosomal dominant;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive	YES	0	1518	4	0	0	4	0.00131579	.	.	278682	Inborn_genetic_diseases|Junctional_epidermolysis_bullosa	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.996	D	0.041	N	0.919	D	1.78	L	-1.37	T	0.264	D	0.584	D	0.527	3.219	16.79	4.27	2.232	4.153	10.263	0.595	0.347312962355	.	.	6.984e-05	0	0	0	0	0	0	0.0005	5.82e-05	9	154602	rs769334793	2.737e-05	2.736e-05	1.225e-05	4.264e-05	0.0004	2.063e-05	1.816e-05	0.0003	0.0003	0	0	0	0	0	0.0003	8.994e-07	4.97e-05	0.0004	1.973e-05	1.97e-05	1.286e-05	2.694e-05	0.0006	5.25e-06	2.46e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	0	0	0.0006	0.007	0.78490	D	0.009	0.66756	D	1.0	0.90584	D	0.996	0.84481	D	0.040873	0.24011	N	0.434279	0.919379	0.36632	D	2.48	0.72069	M	-1.37	0.80214	T	-2.54	0.55025	D	0.586	0.60664	0.264	0.86968	D	0.584	0.85079	D	10	0.49766478	0.61362	T	0.347313	0.92175	D	0.595	0.83911	0.59	0.71874	0.941097715605	0.94048	0.7029622431560919	0.70237	0.551627245893	0.51996	0.403543412685	0.25561	T	0.451514	0.79220	T	-0.117506	0.33531	T	-0.100589	0.63352	T	0.486158907413483	0.32123	T	0.836816	0.56877	T	0.7056676	0.78368	0.47298768	0.69450	0.7056676	0.78369	0.47298768	0.69451	-11.836	0.84042	D	.	.	0.554	0.67711	A	.;.;.;.	.;.;.;.	4.672407	0.74688	26.2	0.99745700666787718	0.83852	0.93393	0.58097	D	AEFDBCI	0.728931	0.67680	D	0.525015320884231	0.68573	5.235883	0.456130249703696	0.65112	4.782694	0.999999859301751	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.27	4.27	0.50009	4.380000	0.59348	5.880000	0.50633	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.460000	0.28118	0.0:0.9079:0.0:0.0921	10.263	0.42618	937	0.14592	Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal;Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal;Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal;Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.04762	4741.13	34	chr1	209634623	.	C	T,A	4741.13	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=2.25;DP=909;ExcessHet=0.1072;FS=1.009;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=19.04;ReadPosRankSum=0.532;SOR=0.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0,0:33:99:.:.:0,99,1157,99,1157,1157	19	0	1	0
chr1	209762624	209762624	A	C	exonic	TRAF3IP3	.	nonsynonymous SNV	TRAF3IP3:NM_001320143:exon4:c.A455C:p.Q152P	.	.	425	1091	5	1	0	7	0.00319781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.34	B	0.071	B	0.798	N	1.000	N	1.39	L	0.88	T	-0.995	T	0.087	T	0.317	1.455	10.81	0.933	0.332	0.025	3.230	0.051	0.00641796823396	.	.	9.032e-06	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs758898235	2.037e-05	1.984e-05	1.575e-05	2.515e-05	0.0003	1.413e-05	1.216e-05	0.0002	0.0001	0	0	0	0	0	0	4.667e-06	7.092e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.63226	D	0.179	0.41742	T	0.167	0.28604	B	0.071	0.27960	B	0.798355	0.09343	N	0.895550	1	0.08975	N	1.845	0.48678	L	0.88	0.46777	T	-0.89	0.30140	N	0.421	0.47301	-0.9954	0.31191	T	0.087	0.33802	T	10	0.07760432	0.12267	T	0.006418	0.16899	T	0.051	0.14325	0.108	0.01928	0.243972157842	0.24002	0.25297468803993645	0.25211	0.197208296933	0.22091	0.246730059385	0.03431	T	0.010732	0.12197	T	-0.346349	0.04960	T	-0.470855	0.25425	T	0.0478996668457937	0.05126	T	0.70043	0.31009	T	0.161723	0.36200	0.10531293	0.25314	0.161723	0.36200	0.10531293	0.25313	-2.881	0.08955	T	.	.	0.070	0.04041	B	.;.;.;.	.;.;.;.	1.084198	0.14677	11.23	0.81683307876642886	0.13807	0.06489	0.12499	N	AEFGBCI	0.130445	0.24899	N	-0.797248067358207	0.13382	0.6588134	-0.87284335252994	0.12739	0.6570549	0.997492823695706	0.35680	0.67177	0.52595	0	0.702456	0.74545	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.74	0.933	0.18597	-0.212000	0.09323	1.068000	0.23780	0.691000	0.84096	0.000000	0.06391	0.924000	0.28388	0.049000	0.15107	0.6324:0.0:0.1949:0.1727	3.230	0.06345	872	0.31118	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1848.98	54	chr1	209762624	.	A	C	1848.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.060e+00;DP=1005;ExcessHet=0.0000;FS=7.162;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=0.552;SOR=1.043	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,106,1800	20	0	1	0
chr1	209837143	209837143	C	T	exonic	UTP25	.	nonsynonymous SNV	UTP25:NM_014388:exon6:c.C994T:p.R332C,	.	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.099	B	0.018	B	0.030	N	0.999	N	0.345	N	0.91	T	-1.049	T	0.054	T	0.323	1.902	12.32	3.03	0.846	0.860	5.746	0.036	0.00525987122179	0.0002	0.000399361	0.0008	0.0002	8.709e-05	0	0.0026	0.0009	0.0022	0.0008	0.0006145	95	154602	rs61740244	0.0003	0.0003	0.0003	0.0003	0.0005	0.0003	0.0003	0.0004	0.0003	0.0001	0.0003	0	0	0.0028	0.0005	0.0002	0.0006	0.0005	0.0003	0.0003	0.0003	0.0003	0.0006	0.0003	0.0002	0.0002	0.0002	9.626e-05	0	0.0001	0	0	0.0020	0	0.0003	0	0.0006	0.157	0.23997	T	0.146	0.32891	T	.	.	.	.	.	.	0.029898	0.25388	N	0.461717	0.99901	0.21718	N	.	.	.	0.91	0.44856	T	-1.41	0.34795	N	0.329	0.36989	-1.0494	0.14565	T	0.054	0.22808	T	10	0.0085430145	0.00194	T	0.00526	0.13433	T	0.036	0.09122	.	.	0.270447802918	0.26645	0.4098948821134726	0.40905	0.168013228179	0.18945	0.318220257759	0.13151	T	.	.	.	-0.408627	0.02030	T	-0.484192	0.24001	T	0.0106054226883812	0.00148	T	0.79482	0.43725	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.19518	B	.	.	3.122239	0.42153	21.5	0.99012642400289985	0.50399	0.24174	0.22311	N	AEFBI	0.081835	0.16563	N	-0.498724929992275	0.22123	1.179051	-0.380186323915271	0.25587	1.408111	0.999861499697187	0.44398	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.662433	0.64102	0	.	.	5.91	3.03	0.34070	0.896000	0.28009	1.823000	0.29055	0.599000	0.40250	0.028000	0.20300	0.666000	0.26041	0.983000	0.59808	0.2247:0.5833:0.0:0.1921	5.746	0.17388	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1477.98	33	chr1	209837143	.	C	T	1477.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=797;ExcessHet=0.0000;FS=4.571;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.96;ReadPosRankSum=0.641;SOR=1.115	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1085	20	0	1	0
chr1	209839092	209839092	G	A	exonic	UTP25	.	nonsynonymous SNV	UTP25:NM_014388:exon7:c.G1246A:p.V416I,	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.504	P	0.102	B	0.000	D	0.999	D	0.215	N	0.99	T	-1.087	T	0.032	T	0.14	2.804	15.34	5.95	2.824	3.683	18.574	0.095	.	0.0002	0.00339457	0.0018	0	0.0009	0.0202	0.0006	0.0003	0.0033	0.0002	0.0016171	250	154602	rs41275346	0.0006	0.0006	0.0006	0.0006	0.0151	0.0006	0.0005	0.0141	0.0137	0.0002	0.0004	0.0006	0.0151	0.0003	0.0002	0.0001	0.0009	0.0003	0.0008	0.0008	0.0007	0.0009	0.0189	0.0007	0.0007	0.0159	0.0147	0	0	0.0005	0.0003	0.0189	0	0	0.0003	0	0.0006	0.19	0.21144	T	0.687	0.05976	T	.	.	.	.	.	.	0.000021	0.55875	D	0.121050	0.999277	0.46519	D	.	.	.	0.99	0.41750	T	-0.39	0.13611	N	0.29	0.32812	-1.0865	0.06138	T	0.032	0.13898	T	10	0.018363178	0.00399	T	.	.	.	0.095	0.27398	.	.	0.490352026379	0.48669	0.43674360699693043	0.43591	0.105508220992	0.11931	0.550137102604	0.45877	T	.	.	.	-0.555554	0.00270	T	-0.551867	0.17146	T	0.0218508275608121	0.00892	T	0.884412	0.60756	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.04975	B	.	.	2.627935	0.34164	19.55	0.99584133588421653	0.73218	0.84244	0.43327	D	AEFBCI	0.164632	0.29104	N	-0.0067838260700968	0.41548	2.487116	0.177368100835567	0.48609	3.074582	0.9999997822555	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.95	5.95	0.96415	3.762000	0.54962	7.508000	0.59580	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.806000	0.37994	0.0:0.0:1.0:0.0	18.574	0.91102	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2042.98	35	chr1	209839092	.	G	A	2042.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.96;DP=894;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.80;ReadPosRankSum=1.44;SOR=0.662	GT:AD:DP:GQ:PL	0/1:63,75:138:99:2057,0,1422	20	0	1	0
chr1	209843488	209843488	C	T	exonic	UTP25	.	nonsynonymous SNV	UTP25:NM_014388:exon11:c.C1819T:p.R607C,	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.976	D	0.000	D	1.000	D	2.475	M	0.76	T	-0.365	T	0.315	T	0.572	4.075	21.0	4.71	1.346	6.077	15.779	0.389	0.0524860210233	.	.	5e-05	0	0	0	0	7.573e-05	0	6.129e-05	3.88e-05	6	154602	rs750896524	2.189e-05	2.189e-05	1.497e-05	2.888e-05	3.478e-05	1.584e-05	1.356e-05	1.83e-05	1.582e-05	0	0	0	0	0	0	2.608e-05	0	3.478e-05	6.57e-06	6.566e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.002	0.79402	D	.	.	.	.	.	.	0.000001	0.84330	D	0.096756	1	0.81001	D	.	.	.	0.76	0.49919	T	-6.19	0.90332	D	0.674	0.68169	-0.3653	0.73105	T	0.315	0.68522	T	10	0.8368162	0.82837	D	0.052486	0.65089	D	0.389	0.70521	0.697	0.83406	0.720329122439	0.71786	0.748756468702446	0.74821	0.623308993497	0.56559	0.46598392725	0.34130	T	.	.	.	-0.105108	0.35578	T	-0.202853	0.54375	T	0.906220614910126	0.56017	D	0.979102	0.92705	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.28920	B	.	.	4.779207	0.77442	26.7	0.99933561949013705	0.99488	0.97503	0.75172	D	AEFBI	0.762302	0.69976	D	0.627697349904831	0.74933	6.217643	0.553291629446579	0.71626	5.683636	0.999999842042855	0.74766	0.722319	0.85440	0	0.653731	0.59785	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.64	4.71	0.59010	6.134000	0.71435	7.664000	0.64404	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.373000	0.26178	0.1373:0.8627:0.0:0.0	15.779	0.78017	859	0.33891	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1391.98	33	chr1	209843488	.	C	T	1391.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.39;DP=886;ExcessHet=0.0000;FS=2.045;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.49;ReadPosRankSum=-2.830e-01;SOR=0.917	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr1	210238133	210238133	C	A	exonic	SERTAD4	.	nonsynonymous SNV	SERTAD4:NM_001354173:exon2:c.C173A:p.A58E	.	.	.	.	.	.	.	.	.	0.0115	0.196	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.7	P	0.229	B	0.003	N	1.000	D	0.46	N	.	.	-0.947	T	0.102	T	0.631	2.575	14.57	4.45	1.244	4.584	14.996	0.165	0.0108236364897	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1421323434	2.07e-06	3.42e-06	2.746e-06	1.388e-06	1.185e-05	5.5e-07	1.5e-07	.	.	0	0	3.975e-05	0	0	0	0	1.676e-05	1.185e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.019	0.59159	D	0.7	0.41856	P	0.229	0.38155	B	0.002807	0.35900	N	0.184718	0.999987	0.54805	D	1.5	0.37844	L	.	.	.	-1.52	0.36980	N	0.46	0.49692	-0.9465	0.41566	T	0.102	0.37743	T	9	0.21065408	0.37467	T	0.010824	0.27789	T	0.165	0.42395	0.249	0.18602	0.143184338766	0.13958	0.2550739583045576	0.25421	0.199109149286	0.22306	0.55301296711	0.46283	T	0.012646	0.11078	T	0.0868789	0.62836	D	-0.112981	0.62374	T	0.433723419904709	0.30198	T	.	.	.	0.28940344	0.51937	0.40748748	0.65093	0.28940344	0.51937	0.40748748	0.65093	-4.002	0.23834	T	.	.	0.184	0.39949	B	.	.	3.794626	0.54638	23.5	0.98575635088307645	0.43167	0.95886	0.66577	D	AEFDBI	0.646836	0.62223	D	-0.0787575819518349	0.38325	2.242937	0.0264068362404816	0.40944	2.451793	0.999999887250792	0.74766	0.653281	0.48532	0	0.59043	0.45803	0	0.527494	0.11647	0	0.669	0.65921	0	.	.	5.37	4.45	0.53365	3.465000	0.52828	7.677000	0.65097	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.838000	0.39538	0.0:0.8564:0.1435:0.0	14.996	0.71084	700	0.57880	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	461.98	41	chr1	210238133	.	C	A	461.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.282e+00;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=-1.500e+00;SOR=0.941	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr1	210329072	210329072	G	C	exonic	HHAT	.	nonsynonymous SNV	HHAT:NM_001170587:exon1:c.G62C:p.R21P,	.	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.98	D	0.774	P	.	.	1.000	N	0	N	2.14	T	-1.051	T	0.040	T	0.254	3.024	16.09	1.37	-0.017	0.074	5.454	0.038	0.00928470718782	.	.	0.0019	0	0	0	0	0.0003	0	0.0044	0.0001358	21	154602	rs757118759	0.0002	0.0002	0.0001	0.0002	0.0019	0.0002	0.0002	0.0017	0.0016	0	0.0002	0.0010	0	0	0.0008	7.624e-05	0.0002	0.0019	0.0002	0.0002	0.0002	0.0002	0.0008	0.0002	0.0001	0.0004	0.0003	2.412e-05	0	0.0007	0.0012	0	0	0	0.0002	0.0005	0.0008	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.19781	N	.	.	.	2.14	0.19450	T	-0.53	0.16393	N	0.436	0.47487	-1.0513	0.14036	T	0.040	0.17319	T	9	0.0045894384	0.00096	T	0.009285	0.24366	T	0.038	0.09825	0.215	0.13498	0.215109475489	0.21095	0.42814527604079894	0.42731	0.154635715267	0.17468	.	.	.	.	.	.	-0.495205	0.00608	T	-0.490889	0.23298	T	0.0868333156934729	0.10838	T	0.366163	0.08539	T	.	.	.	.	.	.	.	.	-3.639	0.18422	T	.	.	0.093	0.14062	B	.	.	1.207552	0.16000	12.25	0.98654475965990152	0.44233	0.03570	0.08781	N	ALL	0.087434	0.17729	N	-0.537937898270118	0.20864	1.103048	-0.711998110538121	0.16662	0.8824934	0.999999972071946	0.74766	0.437478	0.07067	0	0.218748	0.04544	0	0.606814	0.37721	0	0.249971	0.05119	0	.	.	3.3	1.37	0.21200	0.096000	0.14986	0.179000	0.15609	0.676000	0.76740	0.000000	0.06391	0.002000	0.18203	0.651000	0.32720	0.2817:0.0:0.7183:0.0	5.454	0.15874	689	0.59000	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	565.98	33	chr1	210329072	.	G	C	565.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.780;DP=743;ExcessHet=0.0000;FS=1.238;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.86;ReadPosRankSum=-1.890e-01;SOR=0.976	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1156	20	0	1	0
chr1	210404521	210404521	C	T	exonic	HHAT	.	nonsynonymous SNV	HHAT:NM_001170587:exon5:c.C529T:p.R177C	.	.	433	1080	6	3	0	12	0.00552486	.	.	732076	HHAT-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.18	T	0.919	P	0.263	B	0.000	D	1.000	D	0.55	N	-0.75	T	-0.627	T	0.234	T	0.455	3.651	18.56	5.54	2.605	4.834	19.113	0.166	.	.	0.00119808	0.0015	0	0.0003	0.0001	0	4.496e-05	0	0.0106	0.0012742	197	154602	rs567439002	0.0007	0.0007	0.0004	0.0011	0.0103	0.0007	0.0007	0.0097	0.0095	2.988e-05	0.0002	0	7.557e-05	0	0.0019	0.0001	0.0005	0.0103	0.0004	0.0004	0.0002	0.0006	0.0093	0.0003	0.0003	0.0072	0.0064	4.81e-05	0	0.0001	0	0.0002	0	0	0.0001	0	0.0093	0.265	0.20002	T	0.313	0.22291	T	0.849	0.46879	P	0.221	0.37837	B	0.000000	0.84330	D	0.052004	0.999858	0.81001	D	1.2	0.30300	L	-0.75	0.74053	T	-0.66	0.30964	N	0.194	0.34012	-0.6272	0.63689	T	0.234	0.60124	T	10	0.0092179775	0.00208	T	.	.	.	0.166	0.42578	.	.	0.556811950826	0.55341	0.6371672150338493	0.63650	0.173413079076	0.19527	0.467575103045	0.34348	T	0.298579	0.67113	T	-0.323856	0.06587	T	-0.230011	0.51771	T	0.0490354503941191	0.05329	T	0.933207	0.74971	D	0.20897584	0.43151	0.15171027	0.35725	0.15374242	0.34834	0.12962076	0.31161	-10.988	0.79593	D	.	.	0.198	0.47762	B	.;.;.;.;.;.	.;.;.;.;.;.	4.006484	0.59070	24.1	0.99933265455926812	0.99488	0.81870	0.41189	D	AEFBI	0.304199	0.41197	N	0.210594620591557	0.51711	3.350313	0.354722292240869	0.58793	4.052103	0.999996005973975	0.74766	0.549168	0.22868	0	0.588066	0.40923	0	0.615948	0.41167	0	0.616125	0.45549	0	.	.	5.54	5.54	0.82907	4.969000	0.63449	7.541000	0.60087	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0:1.0:0.0:0.0	19.113	0.93307	700	0.57880	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1864.11	52	chr1	210404521	.	C	T	1864.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-6.350e-01;DP=859;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=0.511;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1482	19	0	2	0
chr1	210418270	210418270	G	T	exonic	HHAT	.	nonsynonymous SNV	HHAT:NM_001170564:exon5:c.G390T:p.M130I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.018	B	0.016	B	0.000	D	1.000	D	0.805	L	-0.59	T	-0.854	T	0.198	T	0.333	0.135	4.728	5.1	2.371	2.087	11.574	0.166	0.0231787025383	.	.	8.339e-06	0	0	0	0	0	0	6.467e-05	6.5e-06	1	154602	rs767706148	2.601e-05	2.599e-05	2.179e-05	3.027e-05	0.0043	1.933e-05	1.693e-05	0.0030	0.0026	0	0	0	0	0	0.0043	7.196e-06	6.628e-05	1.162e-05	1.314e-05	1.312e-05	0	2.688e-05	.	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0068	0	0	0	0.632	0.06824	T	0.235	0.24767	T	0.018	0.17786	B	0.016	0.17743	B	0.000007	0.62929	D	0.168937	0.994279	0.42222	D	0.695	0.17993	N	-0.59	0.71543	T	-0.14	0.09135	N	0.14	0.22998	-0.8539	0.51696	T	0.198	0.55286	T	10	0.16517398	0.30881	T	0.023179	0.46126	T	0.166	0.42578	0.483	0.56462	0.648984209542	0.64607	0.6179684237340695	0.61729	0.123474915224	0.13901	0.322386682034	0.13782	T	0.143052	0.47896	T	-0.134718	0.30735	T	-0.330659	0.41395	T	0.189078173136445	0.19791	T	0.835616	0.52437	T	0.14326644	0.32935	0.11282552	0.27224	0.14326644	0.32934	0.11282552	0.27224	-7.528	0.57808	D	.	.	0.312	0.53921	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.791814	0.22780	15.76	0.78062643411778099	0.12139	0.76277	0.37398	D	AEFBI	0.288820	0.40062	N	-0.313568165145005	0.28633	1.580869	-0.16078290716029	0.32994	1.882831	0.999978429730218	0.50053	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.1	5.1	0.68917	2.446000	0.44566	8.390000	0.77084	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.263000	0.23594	0.0865:0.0:0.9135:0.0	11.574	0.50109	668	0.61153	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1238.98	33	chr1	210418270	.	G	T	1238.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.600e-01;DP=825;ExcessHet=0.0000;FS=1.479;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.32;ReadPosRankSum=0.656;SOR=0.891	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1162	20	0	1	0
chr1	211673545	211673545	T	A	exonic	NEK2	.	nonsynonymous SNV	NEK2:NM_001204182:exon3:c.A493T:p.I165L	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.123	B	0.306	B	0.000	D	1.000	D	0.82	L	-0.06	T	-0.808	T	0.209	T	0.552	4.139	21.4	5.23	2.095	7.649	15.410	0.199	0.0164383460169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.152	0.35970	T	0.123	0.26785	B	0.306	0.41250	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.655	0.16177	N	-0.06	0.63568	T	-1.69	0.40274	N	0.664	0.67304	-0.8077	0.54689	T	0.209	0.56866	T	10	0.46250212	0.59371	T	0.016438	0.37697	T	0.199	0.48268	0.374	0.38667	0.5864806356	0.58322	0.43537747906506685	0.43454	0.66949931502	0.59350	0.837934553623	0.87779	D	0.020703	0.31243	T	0.0367101	0.56612	T	-0.185045	0.56052	T	0.880712330341339	0.53074	D	0.914409	0.69449	D	0.47980812	0.65888	0.20102015	0.44061	0.47980812	0.65889	0.20102015	0.44060	-3.593	0.24192	T	.	.	0.402	0.60688	A	.;.;.	.;.;.	4.473997	0.69744	25.4	0.98859295922940382	0.47442	0.97918	0.78116	D	AEFBI	0.905922	0.85805	D	0.0660536955415511	0.44884	2.754454	0.243341950686256	0.52272	3.403109	0.999999999984011	0.74766	0.732398	0.92422	0	0.662677	0.63036	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.23	5.23	0.72570	7.673000	0.82956	7.844000	0.70656	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	15.410	0.74631	878	0.29785	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2106.98	63	chr1	211673545	.	T	A	2106.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.837;DP=1018;ExcessHet=0.0000;FS=0.595;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=0.261;SOR=0.767	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:47,0:47:99:.:.:0,105,1575	20	0	1	0
chr1	211673637	211673637	C	T	exonic	NEK2	.	nonsynonymous SNV	NEK2:NM_001204182:exon3:c.G401A:p.G134D	.	.	431	1084	7	0	0	7	0.00321839	.	.	1002459	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.25	T	0.313	B	0.067	B	0.000	D	1.000	D	0.845	L	-0.71	T	-0.766	T	0.183	T	0.396	3.307	17.12	5.23	2.591	3.078	16.193	0.144	0.014068036672	0.0004	0.00139776	0.0007	0.0010	0.0016	0	0	0.0008	0.0011	0.0001	0.0007503	116	154602	rs146297864	0.0007	0.0007	0.0006	0.0007	0.0099	0.0006	0.0006	0.0078	0.0071	0.0019	0.0019	0.0011	0	3.744e-05	0.0099	0.0006	0.0013	0.0003	0.0007	0.0006	0.0007	0.0006	0.0020	0.0005	0.0005	0.0014	0.0012	0.0006	0	0.0020	0.0006	0	0	0	0.0005	0.0043	0.0002	0.082	0.33254	T	0.068	0.45318	T	0.001	0.30213	B	0.003	0.27542	B	0.000003	0.62929	D	0.140627	0.999999	0.58761	D	0.92	0.23413	L	-0.73	0.73100	T	-2.31	0.51319	N	0.26	0.29659	-0.7660	0.57077	T	0.183	0.53179	T	10	0.011698395	0.00254	T	0.014068	0.33936	T	0.144	0.38394	.	.	0.712730015121	0.71021	0.4039658871646054	0.40312	0.516391962885	0.49530	0.698876559734	0.66981	T	0.032866	0.52654	T	-0.313888	0.07409	T	-0.236885	0.51101	T	0.023527654371772	0.01086	T	0.763424	0.39120	T	0.42187703	0.62217	0.3635728	0.61742	0.42187703	0.62217	0.3635728	0.61741	-6.84	0.53558	T	.	.	0.261	0.52500	B	.;.;.	.;.;.	2.685011	0.35034	19.79	0.99433556986104144	0.64374	0.93292	0.57827	D	AEFBI	0.476293	0.51977	N	-0.0337977612407845	0.40329	2.393147	0.147076617811273	0.46987	2.93588	0.999999998976107	0.74766	0.732398	0.92422	0	0.662677	0.63036	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.23	5.23	0.72570	3.177000	0.50572	3.965000	0.40779	0.530000	0.24713	0.986000	0.36153	0.999000	0.35428	0.996000	0.76049	0.0:0.867:0.133:0.0	16.193	0.81824	878	0.29785	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1575.98	63	chr1	211673637	.	C	T	1575.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=981;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.36;ReadPosRankSum=0.268;SOR=0.687	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,105,1575	20	0	1	0
chr1	212100360	212100360	A	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.A557G:p.D186G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	1.0	D	0.998	D	0.000	D	0.999	D	1.795	L	-0.64	T	-0.354	T	0.438	T	0.77	3.715	18.87	4.24	0.943	5.925	12.458	0.526	0.0705558454721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.851e-05	0.0028	0.0001	7.4e-05	0.0004	7.568e-05	7.088e-05	8.625e-05	8.04e-05	0.0002	0	7.808e-05	0	0	0.0004	0.0001	8.675e-05	2.365e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.106	0.39340	T	1.0	0.90584	D	0.998	0.88582	D	0.000003	0.62929	D	0.058592	0.999257	0.46462	D	2.25	0.63811	M	-0.7	0.72785	T	-1.67	0.40468	N	0.749	0.74826	-0.3539	0.73441	T	0.438	0.77695	T	10	0.75805414	0.76133	D	0.070556	0.71033	D	0.526	0.79947	0.319	0.29741	0.808314291208	0.80651	0.3264893862643791	0.32561	0.86120817891	0.68970	0.44428807497	0.31164	T	0.329649	0.69993	T	0.19523	0.73447	D	0.0426576	0.73102	D	0.955969452857971	0.64639	D	0.89741	0.64114	D	0.3560679	0.57536	0.23249285	0.48411	0.3560679	0.57536	0.23249285	0.48410	-2.972	0.09882	T	.	.	0.269	0.50334	B	.;.	.;.	4.309799	0.65871	24.9	0.99831915659102677	0.91370	0.96274	0.68342	D	AEFGBI	0.726655	0.67525	D	0.474501222025507	0.65606	4.843659	0.455932996682415	0.65097	4.781064	0.999162801006358	0.38622	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	4.24	0.49486	5.910000	0.69668	9.238000	0.79403	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8598:0.1402:0.0:0.0	12.458	0.55050	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.125	789.99	105	chr1	212100360	.	A	G	789.99	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-3.330e+00;DP=2216;ExcessHet=1.1607;FS=79.885;InbreedingCoeff=-0.1403;MLEAC=4;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=1.39;ReadPosRankSum=1.42;SOR=9.437	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:107,0:107:0:.:.:0,0,1969	15	0	5	1
chr1	212100361	212100361	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C558G:p.D186E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	1.0	D	0.996	D	0.000	D	0.989	D	1.795	L	-0.53	T	-0.381	T	0.393	T	0.433	3.843	19.52	3.55	0.781	1.239	11.901	0.311	0.0329555447533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.37e-05	0.0014	5.667e-05	3.064e-05	5.487e-05	3.491e-05	3.173e-05	4.337e-05	3.902e-05	3.026e-05	0	3.843e-05	0	0	0	5.487e-05	1.673e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.171	0.31936	T	1.0	0.90584	D	0.996	0.84481	D	0.000003	0.62929	D	0.058592	0.989147	0.40895	D	2.25	0.63811	M	-0.6	0.71662	T	-0.8	0.22294	N	0.349	0.39052	-0.3807	0.72629	T	0.393	0.74685	T	10	0.3230481	0.49647	T	0.032956	0.54641	D	0.311	0.63269	0.299	0.26522	0.740948349148	0.73862	0.17433452095652613	0.17352	0.336806597811	0.35678	0.457547277212	0.32974	T	0.149432	0.48844	T	0.025508	0.55121	T	-0.201136	0.54540	T	0.753782212734222	0.43497	D	0.759324	0.38363	T	0.3453272	0.56701	0.20157085	0.44143	0.3453272	0.56701	0.20157085	0.44142	-3.559	0.17267	T	.	.	0.298	0.52841	B	.;.	.;.	3.620151	0.51223	23.1	0.99649687588057234	0.77192	0.89840	0.50569	D	AEFGBI	0.335728	0.43407	N	0.202993589347586	0.51343	3.316385	0.188628048828177	0.49223	3.128123	0.997589750058845	0.35786	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	3.55	0.39770	1.268000	0.32665	1.684000	0.28029	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8588:0.0:0.1412	11.901	0.51966	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2105	1408.15	87	chr1	212100361	.	C	G	1408.15	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-3.253e+00;DP=2254;ExcessHet=3.5521;FS=100.771;InbreedingCoeff=-0.2600;MLEAC=8;MLEAF=0.211;MQ=60.00;MQRankSum=0.00;QD=1.54;ReadPosRankSum=1.61;SOR=10.656	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:107,0:107:0:.:.:0,0,1969	11	0	8	2
chr1	212100362	212100362	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C559G:p.L187V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	1.0	D	0.998	D	0.000	D	1.000	D	1.845	L	-0.74	T	-0.175	T	0.536	D	0.259	3.999	20.5	5.41	2.697	4.959	19.553	0.250	0.0545165954567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.847e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.438	0.13595	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.25	0.63811	M	-0.81	0.73949	T	-0.71	0.20358	N	0.513	0.54409	-0.1746	0.78316	T	0.536	0.82849	D	10	0.37823913	0.53996	T	0.054517	0.65885	D	0.250	0.55888	0.198	0.11110	0.766922051636	0.76479	0.22416353566131936	0.22331	1.04972523653	0.76107	0.472474902868	0.35021	T	0.11718	0.43707	T	0.00178878	0.51901	T	-0.235207	0.51265	T	0.933079659938812	0.59956	D	0.891311	0.62583	D	0.38030902	0.59339	0.26082087	0.51851	0.38030902	0.59339	0.26082087	0.51850	-4.02	0.24102	T	.	.	0.169	0.37235	B	.;.	.;.	4.139380	0.62006	24.4	0.99826959884761401	0.90939	0.96985	0.72028	D	AEFGBI	0.698434	0.65611	D	0.646827706149991	0.76162	6.436104	0.648942237263915	0.78531	6.895201	0.9999999853233	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	5.41	0.78313	5.006000	0.63731	5.980000	0.52153	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.553	0.95324	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1667	1127.66	57	chr1	212100362	.	C	G	1127.66	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-4.580e+00;DP=1907;ExcessHet=2.5830;FS=91.638;InbreedingCoeff=-0.1887;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=1.46;ReadPosRankSum=1.70;SOR=10.295	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:112,0:112:40:.:.:0,40,2484	14	0	7	0
chr1	212385408	212385408	C	T	exonic	PACC1	.	nonsynonymous SNV	PACC1:NM_001377478:exon3:c.G151A:p.G51S	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	1.04	L	.	.	-0.329	T	0.348	T	0.957	5.206	33	5.43	2.531	6.922	19.227	0.672	0.0792849366359	7.7e-05	.	3.297e-05	0	8.649e-05	0	0	4.498e-05	0	0	3.23e-05	5	154602	rs369443875	3.42e-05	3.42e-05	3.131e-05	3.713e-05	0.0002	2.631e-05	2.375e-05	9.75e-05	6.951e-05	0.0002	6.709e-05	0	2.519e-05	0	0.0002	3.148e-05	3.312e-05	1.159e-05	4.607e-05	4.598e-05	5.145e-05	4.043e-05	0.0001	2.112e-05	1.529e-05	2.847e-05	1.859e-05	0	0	0.0001	0	0	0	0	7.354e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.135	0.59519	M	.	.	.	-6.0	0.89534	D	0.89	0.91162	-0.3285	0.74177	T	0.348	0.71289	T	9	0.8591851	0.85129	D	0.079285	0.73198	D	0.672	0.87868	.	.	0.0884992946249	0.08302	0.6376872781503562	0.63702	0.800424337684	0.66216	0.766312479973	0.76872	T	0.24132	0.60982	T	0.303707	0.83263	D	0.395449	0.91963	D	0.95759129524231	0.65050	D	0.955104	0.82903	D	0.8703842	0.88892	0.7972815	0.88099	0.8703842	0.88893	0.7972815	0.88100	-3.152	0.11903	T	.	.	0.185	0.45690	B	.;.	.;.	4.927351	0.81204	27.5	0.99878806501516393	0.95572	0.98344	0.81832	D	AEFGBI	0.787703	0.71741	D	0.613545268681952	0.74032	6.064045	0.603239109101594	0.75175	6.264301	0.999999993686788	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.43	5.43	0.79006	7.026000	0.76192	5.898000	0.50850	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.707000	0.34357	0.0:1.0:0.0:0.0	19.227	0.93809	816	0.41767	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	896.98	41	chr1	212385408	.	C	T	896.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=-7.740e-01;SOR=0.720	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1031	20	0	1	0
chr1	212387013	212387013	T	C	exonic	PACC1	.	nonsynonymous SNV	PACC1:NM_001377480:exon3:c.A221G:p.Y74C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	1.04	L	.	.	-0.475	T	0.282	T	0.935	4.550	24.6	4.94	1.983	7.673	14.898	0.718	0.0476488825316	.	.	3.296e-05	0	0.0002	0	0	2.998e-05	0	0	2.59e-05	4	154602	rs771847878	3.625e-05	3.625e-05	3.267e-05	3.988e-05	6.708e-05	2.828e-05	2.565e-05	3.343e-05	2.956e-05	0	6.708e-05	0	0	0	0	4.317e-05	3.311e-05	0	4.603e-05	4.598e-05	6.426e-05	2.693e-05	6.545e-05	2.111e-05	1.528e-05	1.972e-05	1.125e-05	0	0	6.545e-05	0	0	0	0	5.881e-05	0.0010	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.135	0.59519	M	.	.	.	-8.94	0.97981	D	0.955	0.97317	-0.4749	0.69552	T	0.282	0.65389	T	9	0.78695416	0.78329	D	0.047649	0.63015	D	0.718	0.90011	0.462	0.53079	0.171388866994	0.16791	0.7450011626884397	0.74446	0.902985264539	0.70709	0.878340005875	0.93736	D	0.279372	0.65205	T	0.330793	0.85216	D	0.434356	0.93168	D	0.965036511421204	0.67142	D	0.944006	0.78847	D	0.93361145	0.94599	0.8554387	0.91870	0.93361145	0.94599	0.8554387	0.91871	-3.734	0.19821	T	.	.	0.456	0.71010	A	.;.	.;.	5.221820	0.87644	29.3	0.99849823349692157	0.92925	0.98582	0.84349	D	AEFDGBI	0.906322	0.85896	D	0.633954781649986	0.75333	6.287598	0.63866620125095	0.77768	6.743632	0.999999313445537	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.94	4.94	0.64645	7.627000	0.82366	7.846000	0.70742	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.898	0.70296	811	0.42639	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1632.98	33	chr1	212387013	.	T	C	1632.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=816;ExcessHet=0.0000;FS=3.403;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=-6.910e-01;SOR=0.437	GT:AD:DP:GQ:PL	0/1:54,65:119:99:1647,0,1229	20	0	1	0
chr1	212625949	212625949	G	A	exonic	FAM71A	.	nonsynonymous SNV	FAM71A:NM_153606:exon1:c.G1072A:p.A358T,	.	.	393	1128	1	0	0	1	0.000443066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.0	B	.	.	1.000	N	-0.69	N	3.9	T	-0.941	T	0.004	T	0.043	-0.772	0.754	-7.48	-3.048	-3.339	1.290	0.014	0.000659680171823	.	0.000199681	0.0002	9.825e-05	0.0005	0.0014	0	0	0.0011	0.0005	0.0001876	29	154602	rs550858036	8.619e-05	8.619e-05	8.304e-05	8.938e-05	0.0011	7.353e-05	6.903e-05	0.0008	0.0008	0.0002	0.0004	0	0.0011	3.746e-05	0.0002	3.597e-06	0.0002	0.0005	0.0001	0.0001	8.989e-05	0.0001	0.0021	7.082e-05	5.74e-05	0.0012	0.0009	2.404e-05	0	6.532e-05	0	0.0021	0	0	1.47e-05	0	0.0006	0.798	0.03134	T	0.806	0.03993	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.35	0.03145	N	3.9	0.03516	T	0.35	0.03761	N	0.026	0.00527	-0.9414	0.42394	T	0.004	0.01125	T	9	0.0050050616	0.00108	T	6.6E-4	0.00367	T	0.014	0.01968	0.087	0.00904	0.201204373187	0.19734	0.04612094333899607	0.04556	0.0672680960363	0.07519	0.206395626068	0.00667	T	5.61E-4	0.00225	T	-0.713419	0.00030	T	-0.853902	0.00911	T	0.0128701709109604	0.00220	T	0.291471	0.05330	T	0.027224785	0.01885	0.060480494	0.11525	0.027224785	0.01885	0.060480494	0.11524	-3.669	0.18861	T	.	.	0.069	0.03162	B	.	.	-0.867544	0.00981	0.039	0.59919996424945632	0.06338	0.00131	0.00809	N	AEFDBI	0.011633	0.00107	N	-2.27315871832495	0.00052	0.002246944	-2.33034608810934	0.00057	0.002491448	0.997591770832634	0.35797	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.74	-7.48	0.01216	-3.633000	0.00457	-3.962000	0.02425	-1.837000	0.00584	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1349:0.294:0.246:0.3251	1.290	0.01934	829	0.39537	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2361.98	71	chr1	212625949	.	G	A	2361.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.483;DP=1480;ExcessHet=0.0000;FS=1.291;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.64;ReadPosRankSum=0.378;SOR=0.591	GT:AD:DP:GQ:PL	0/0:81,0:81:99:0,120,1800	20	0	1	0
chr1	212626070	212626070	G	A	exonic	FAM71A	.	nonsynonymous SNV	FAM71A:NM_153606:exon1:c.G1193A:p.R398Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.002	B	0.0	B	.	.	1.000	N	-0.69	N	3.84	T	-0.929	T	0.004	T	0.093	1.289	10.22	-4.36	-1.036	-0.451	2.269	0.003	0.0011831942686	.	0.000199681	8.273e-05	0	0.0002	0	0	1.505e-05	0	0.0004	7.76e-05	12	154602	rs529865744	7.867e-05	7.867e-05	4.628e-05	0.0001	0.0008	6.667e-05	6.201e-05	0.0006	0.0006	0	0.0001	0	2.519e-05	0	0	3.597e-05	3.311e-05	0.0008	7.877e-05	7.874e-05	6.422e-05	9.397e-05	0.0015	4.492e-05	3.509e-05	0.0007	0.0005	0	0	0.0002	0	0	0	0	2.94e-05	0	0.0015	0.181	0.21884	T	0.301	0.20293	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	3.84	0.03675	T	-0.27	0.11366	N	0.09	0.06854	-0.9286	0.44342	T	0.004	0.01330	T	9	0.015544176	0.00326	T	0.001183	0.01509	T	0.003	0.00094	0.273	0.22369	0.0884992946249	0.08302	0.03841156019954008	0.03787	0.0792378066737	0.08917	0.207119524479	0.00695	T	9.95E-4	0.00532	T	-0.618823	0.00112	T	-0.777241	0.02537	T	0.0249199616823734	0.01262	T	0.361564	0.08348	T	0.021917649	0.00821	0.030120572	0.01429	0.021917649	0.00821	0.030120572	0.01428	-3.744	0.19970	T	.	.	0.068	0.02861	B	.	.	0.201288	0.05860	2.301	0.86659121364611613	0.16685	0.01367	0.04671	N	AEFDBI	0.031907	0.03505	N	-1.84277320662047	0.00449	0.01929888	-1.85468195417811	0.00599	0.02663211	0.00127200378276305	0.08400	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.17	-4.36	0.03392	-0.306000	0.08217	-0.209000	0.10871	-1.565000	0.00942	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1287:0.3645:0.2719:0.2348	2.269	0.03837	829	0.39537	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2284.98	71	chr1	212626070	.	G	A	2284.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.196;DP=1478;ExcessHet=0.0000;FS=8.540;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=0.288;SOR=0.930	GT:AD:DP:GQ:PL	0/0:81,0:81:99:0,120,1800	20	0	1	0
chr1	212626654	212626654	G	A	exonic	FAM71A	.	nonsynonymous SNV	FAM71A:NM_153606:exon1:c.G1777A:p.A593T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	0.001	B	0.002	B	.	.	1.000	N	0.075	N	3.47	T	-0.930	T	0.007	T	0.041	0.713	7.796	-4.35	-1.370	-0.216	2.703	0.012	0.00157146603947	.	.	3.548e-05	0	0	0	0	6.227e-05	0	0	2.59e-05	4	154602	rs780791348	2.489e-05	2.463e-05	2.474e-05	2.505e-05	0.0004	1.823e-05	1.618e-05	6.183e-05	2.555e-05	0	0	0	0	0	0.0004	2.534e-05	6.701e-05	2.407e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.15876	T	0.07	0.43721	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.06	0.04898	N	3.47	0.05188	T	-0.69	0.19720	N	0.053	0.02462	-0.9303	0.44095	T	0.007	0.02282	T	9	0.03136775	0.01270	T	0.001571	0.02497	T	0.012	0.01476	0.143	0.04650	0.0920862733494	0.08535	0.051706640169727446	0.05112	0.0676473337877	0.07564	0.30421102047	0.11032	T	0.001407	0.00865	T	-0.537147	0.00348	T	-0.840222	0.01095	T	0.0172601570731133	0.00468	T	0.440756	0.12177	T	0.030247578	0.02655	0.049015183	0.07400	0.030247578	0.02655	0.049015183	0.07400	-3.561	0.17296	T	.	.	0.08	0.07793	B	.	.	-0.051126	0.03944	0.879	0.71725687354716094	0.09727	0.01393	0.04730	N	AEFGBI	0.025506	0.01757	N	-1.97106391720851	0.00244	0.01045689	-1.99269282741174	0.00317	0.01401015	0.0465362041070385	0.14694	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.04	-4.35	0.03402	-0.319000	0.08080	-0.131000	0.11618	-0.787000	0.03278	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.41:0.1131:0.3624:0.1145	2.703	0.04836	829	0.39537	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1176.98	39	chr1	212626654	.	G	A	1176.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.970e-01;DP=930;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.12;ReadPosRankSum=1.02;SOR=0.675	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr1	212836041	212836041	G	A	exonic	SPATA45	.	stopgain	SPATA45:NM_001024601:exon2:c.C109T:p.R37X,	.	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	3.844	19.53	-0.233	-0.046	1.186	4.464	.	.	7.7e-05	0.0257588	0.0087	0.0002	8.639e-05	0.1175	0	0.0001	0.0022	0.0014	0.0081564	1261	154602	rs80161538	0.0029	0.0029	0.0030	0.0028	0.0916	0.0028	0.0028	0.0891	0.0881	0.0001	0.0002	0.0003	0.0916	1.873e-05	0.0003	9.548e-05	0.0053	0.0017	0.0043	0.0043	0.0040	0.0046	0.1167	0.0040	0.0039	0.1089	0.1059	0.0002	0	0.0011	0	0.1167	0	0	0.0001	0.0029	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	0.000042	0.53742	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.048	0.01999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146057	0.68898	D	0.544146	0.95508	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	7.418970	0.96497	36	0.99245540109520503	0.56695	0.34876	0.25170	N	AEFDIJ	0.159358	0.28515	N	0.0636545556546078	0.44772	2.745279	-0.143533436663431	0.33657	1.927629	7.74361718647991E-6	0.01202	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.71	-0.233	0.12433	1.184000	0.31663	2.505000	0.33046	-0.808000	0.03092	1.000000	0.71638	1.000000	0.68203	0.636000	0.32315	0.0:0.1867:0.3576:0.4558	4.464	0.11100	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1998.98	36	chr1	212836041	.	G	A	1998.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.092;DP=945;ExcessHet=0.0000;FS=5.312;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.81;ReadPosRankSum=-1.487e+00;SOR=1.023	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1424	20	0	1	0
chr1	213129835	213129835	G	A	exonic	RPS6KC1	.	nonsynonymous SNV	RPS6KC1:NM_001136138:exon5:c.G745A:p.A249T	.	.	430	1077	15	0	0	15	0.00691563	.	.	1066738	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.15	T	0.58	P	0.151	B	0.000	D	1.000	D	1.07	L	-0.61	T	-0.787	T	0.189	T	0.238	2.962	15.88	5.54	2.605	2.541	8.278	0.102	0.0222216880896	0.0015	0.00119808	0.0012	0.0002	0.0007	0	0.0002	0.0014	0.0033	0.0021	0.001119	173	154602	rs147945661	0.0015	0.0015	0.0014	0.0016	0.0164	0.0015	0.0014	0.0137	0.0127	0.0012	0.0013	0.0008	0	0.0002	0.0164	0.0015	0.0020	0.0023	0.0011	0.0011	0.0011	0.0012	0.0025	0.0010	0.0010	0.0014	0.0013	0.0003	0	0.0018	0.0009	0	0.0006	0	0.0016	0.0005	0.0025	0.109	0.29288	T	0.105	0.38016	T	0.58	0.38813	P	0.098	0.34210	B	0.000004	0.62929	D	0.061479	0.985479	0.81001	D	2.195	0.61839	M	-0.61	0.71779	T	-2.1	0.51157	N	0.248	0.36464	-0.7871	0.55898	T	0.189	0.54064	T	10	0.012542695	0.00269	T	0.022222	0.45086	T	0.102	0.29158	.	.	0.748983866323	0.74672	0.12353733367379002	0.12279	0.149293114294	0.16836	0.398760795593	0.24896	T	0.081853	0.36694	T	-0.367592	0.03718	T	-0.306345	0.44051	T	0.0202358216047287	0.00723	T	0.877312	0.59062	D	0.13537733	0.31420	0.2021305	0.44226	0.13148084	0.30645	0.23356181	0.48547	-7.872	0.60194	D	.	.	0.093	0.22717	B	.;.;.;.;.	.;.;.;.;.	3.192312	0.43374	21.7	0.99751178859942069	0.84305	0.89310	0.49697	D	AEFBI	0.223166	0.34756	N	0.113338170110566	0.47084	2.939161	0.266390792853388	0.53586	3.526939	0.998890240643501	0.37915	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	2.626000	0.46126	9.945000	0.82685	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0832:0.0:0.7599:0.1568	8.278	0.31043	814	0.42100	MIT|MIT;MIT|MIT;MIT|MIT;MIT|MIT;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	770.98	35	chr1	213129835	.	G	A	770.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.347;DP=772;ExcessHet=0.0000;FS=1.943;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.42;ReadPosRankSum=1.11;SOR=0.994	GT:AD:DP:GQ:PL	0/1:42,32:74:99:785,0,1051	20	0	1	0
chr1	213167885	213167885	C	A	exonic	RPS6KC1	.	nonsynonymous SNV	RPS6KC1:NM_001136138:exon6:c.C827A:p.A276D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.525	M	-0.82	T	0.285	D	0.587	D	0.827	4.554	24.6	4.72	1.385	5.871	14.298	0.707	0.224537362519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.738e-06	2.736e-06	2.724e-06	2.752e-06	0.0002	6.4e-07	4.3e-07	9.26e-06	4.57e-06	0	0	0	0	0	0.0002	0	0	3.487e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.76	0.80626	M	-0.82	0.74053	T	-4.24	0.79915	D	0.753	0.88027	0.285	0.87316	D	0.587	0.85211	D	10	0.840824	0.83239	D	0.224537	0.87955	D	0.707	0.89514	0.506	0.60078	0.919786250494	0.91897	0.5940201403582391	0.59332	0.496641408072	0.48171	0.787792980671	0.80107	T	0.368637	0.73349	T	0.272634	0.80675	D	0.153843	0.80426	D	0.995561122894287	0.87656	D	0.937906	0.76702	D	0.7728378	0.82218	0.6889074	0.81699	0.7728378	0.82220	0.6889074	0.81700	-15.749	0.97423	D	.	.	0.825	0.85713	P	.;.;.;.;.	.;.;.;.;.	4.878869	0.79994	27.2	0.9977364846220742	0.86088	0.96853	0.71294	D	AEFI	0.619124	0.60467	D	0.729461602825787	0.81564	7.551826	0.677955729715748	0.80707	7.359376	0.154568239150446	0.17495	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	5.63	4.72	0.59248	5.553000	0.66992	5.935000	0.51384	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9294:0.0:0.0706	14.298	0.65878	536	0.73233	MIT|MIT;MIT|MIT;MIT|MIT;MIT|MIT;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	871.98	36	chr1	213167885	.	C	A	871.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.247;DP=812;ExcessHet=0.0000;FS=0.810;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.38;ReadPosRankSum=0.376;SOR=0.803	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr1	213242000	213242000	G	A	exonic	RPS6KC1	.	nonsynonymous SNV	RPS6KC1:NM_001349663:exon6:c.G1129A:p.E377K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.921	P	0.363	B	0.004	N	0.978	D	1.7	L	1.5	T	-0.864	T	0.154	T	0.38	3.458	17.72	5.91	2.793	4.687	20.299	0.147	0.00963835995748	.	.	2.477e-05	0	0	0	0	0	0.0011	0.0001	1.94e-05	3	154602	rs767069949	5.473e-06	5.472e-06	1.361e-06	9.627e-06	8.116e-05	2.36e-06	1.7e-06	3.766e-05	2.662e-05	0	0	0	0	0	0	0	1.656e-05	8.116e-05	6.566e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.019	0.50132	D	0.468	0.18560	T	0.921	0.51088	P	0.36	0.43280	B	0.004320	0.33881	N	0.324761	0.960191	0.39461	D	2.095	0.58118	M	1.47	0.31987	T	-1.0	0.30762	N	0.176	0.38950	-0.8644	0.50944	T	0.154	0.48447	T	10	0.23164684	0.40143	T	0.009638	0.25199	T	0.147	0.38986	0.575	0.69957	0.637615816057	0.63463	0.625126221859132	0.62445	0.170945335344	0.19261	0.426912724972	0.28787	T	0.023376	0.17856	T	-0.235757	0.15894	T	-0.373771	0.36449	T	0.356748634394436	0.27282	T	0.960104	0.84924	D	0.17323036	0.38059	0.12457416	0.30026	0.17323036	0.38059	0.12457416	0.30025	-4.043	0.24743	T	.	.	0.151	0.38552	B	.;.;.;.;.;.	.;.;.;.;.;.	3.447750	0.47989	22.5	0.99812450384617946	0.89620	0.97832	0.77462	D	AEFBI	0.551861	0.56376	D	0.481922455794502	0.66034	4.898275	0.554189914341773	0.71687	5.693343	0.9999923282661	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.91	5.91	0.95240	3.973000	0.56552	8.670000	0.78005	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	20.299	0.98594	520	0.74355	Protein kinase domain;Protein kinase domain;Protein kinase domain;Protein kinase domain;Protein kinase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1642.98	33	chr1	213242000	.	G	A	1642.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.000e-03;DP=852;ExcessHet=0.0000;FS=3.923;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=0.097;SOR=0.629	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr1	214334267	214334267	G	T	exonic	SMYD2	.	nonsynonymous SNV	SMYD2:NM_020197:exon11:c.G1180T:p.G394C,	.	.	429	1061	32	0	0	32	0.0148561	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.989	D	0.839	P	0.000	D	1.000	D	1.935	M	-0.08	T	-0.477	T	0.384	T	0.708	4.764	26.7	6.17	2.941	4.938	20.879	0.347	0.0246475474506	0.0012	0.00179712	0.0024	0.0004	0.0018	0	0	0.0016	0.0022	0.0095	0.0021927	339	154602	rs141849218	0.0016	0.0016	0.0013	0.0019	0.0104	0.0015	0.0015	0.0098	0.0096	0.0003	0.0013	0.0003	0	7.49e-05	0.0074	0.0011	0.0024	0.0104	0.0011	0.0011	0.0010	0.0012	0.0075	0.0009	0.0009	0.0055	0.0049	0.0003	0	0.0011	0	0.0002	0	0.0068	0.0013	0.0024	0.0075	0.113	0.28772	T	0.004	0.74150	D	0.989	0.62824	D	0.839	0.60107	P	0.000000	0.84330	D	0.045767	0.999984	0.81001	D	2.485	0.72352	M	-0.08	0.63911	T	-3.57	0.68999	D	0.686	0.69213	-0.4774	0.69462	T	0.384	0.73988	T	10	0.011113286	0.00244	T	0.024648	0.47637	T	0.347	0.66863	.	.	0.853526577216	0.85211	0.6862089810114786	0.68560	0.997451953507	0.74294	0.495258688927	0.38167	T	0.117304	0.43730	T	-0.208229	0.19630	T	-0.0639211	0.66057	T	0.0421018828007218	0.04074	T	0.920408	0.71216	D	0.7846071	0.82938	0.47182155	0.69378	0.7846071	0.82940	0.47182155	0.69378	-5.469	0.41578	T	.	.	0.398	0.59438	A	.	.	4.965701	0.82135	27.7	0.99699454157993372	0.80522	0.94898	0.62713	D	AEFDGBCIJ	0.864674	0.78354	D	0.721358354184708	0.81032	7.428307	0.751209301204187	0.86247	8.828641	0.999999999999031	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.688494	0.62686	0	0.645665	0.59343	0	.	.	6.17	6.17	0.99707	5.045000	0.64027	9.999000	0.83031	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.879	0.99870	912	0.21483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2244.98	37	chr1	214334267	.	G	T	2244.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.310e-01;DP=976;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.11;ReadPosRankSum=-5.740e-01;SOR=0.703	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1620	20	0	1	0
chr1	214384272	214384272	G	A	exonic	PTPN14	.	nonsynonymous SNV	PTPN14:NM_005401:exon13:c.C1583T:p.P528L,	Choanal atresia and lymphedema, Autosomal recessive	.	0	225	1	0	0	1	0.00221729	.	.	3396542	Lymphedema-posterior_choanal_atresia_syndrome	MONDO:MONDO:0013324,MedGen:C3150875,OMIM:613611,Orphanet:99141	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.27	T	0.226	B	0.017	B	0.042	N	1.000	D	1.28	L	-0.47	T	-0.781	T	0.220	T	0.179	1.697	11.63	4.45	2.700	3.284	14.451	0.065	0.0115802114614	0.0003	.	0.0003	0	0.0019	0	0	0.0001	0	6.057e-05	0.000207	32	154602	rs141184727	0.0002	0.0002	0.0002	0.0002	0.0015	0.0002	0.0002	0.0012	0.0011	0.0001	0.0015	0	2.519e-05	0	0	0.0002	0.0002	0.0001	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0001	0.0006	0.0005	0.0001	0	0.0010	0	0	0	0	0.0001	0.0005	0	0.142	0.25457	T	0.223	0.25670	T	0.226	0.30455	B	0.017	0.18140	B	0.041982	0.23889	N	0.479026	0.907735	0.81001	D	0	0.06538	N	-0.47	0.70133	T	-2.5	0.54382	D	0.306	0.34552	-0.7811	0.56240	T	0.220	0.58292	T	10	0.026441962	0.00811	T	0.01158	0.29347	T	0.065	0.18881	.	.	0.535086823406	0.53158	0.34652647551607846	0.34566	0.321916192473	0.34392	0.386317938566	0.23150	T	0.557262	0.85116	D	-0.397691	0.02397	T	-0.368659	0.37046	T	0.0289103869605927	0.01824	T	0.886111	0.61235	D	0.05263426	0.09844	0.08048738	0.18210	0.05263426	0.09844	0.08048738	0.18210	-3.206	0.12554	T	.	.	0.081	0.08176	B	.	.	3.779654	0.54333	23.5	0.96419310502295397	0.29751	0.93481	0.58334	D	AEFGBI	0.229097	0.35267	N	-0.0635744158595301	0.38998	2.292826	0.0628461404821554	0.42697	2.587	0.999998569746001	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.41	4.45	0.53365	5.477000	0.66525	8.179000	0.76774	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.310000	0.24737	0.0:0.0:0.8538:0.1462	14.451	0.66961	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2370.98	39	chr1	214384272	.	G	A	2370.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.05;DP=880;ExcessHet=0.0000;FS=1.878;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=1.97;SOR=0.872	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1033	20	0	1	0
chr1	214641961	214641961	C	T	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon12:c.C3623T:p.A1208V,	Stromme syndrome, Autosomal recessive	.	439	1053	29	1	0	31	0.0145063	.	.	427695	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	1	T	0.703	P	0.072	B	0.890	N	1.000	N	.	.	3.96	T	-1.021	T	0.002	T	0.012	-2.527	0.003	2.41	0.455	1.568	7.694	0.178	.	0.0052	0.00499201	0.0114	0.0013	0.0034	0	0.0590	0.0122	0.0302	0.0049	0.0101357	1567	154602	rs114717799	0.0089	0.0089	0.0089	0.0088	0.0264	0.0087	0.0087	0.0230	0.0217	0.0015	0.0053	0.0040	5.047e-05	0.0547	0.0264	0.0077	0.0084	0.0051	0.0098	0.0098	0.0081	0.0116	0.0094	0.0094	0.0092	0.0088	0.0086	0.0014	0	0.0076	0.0049	0	0.0579	0.0102	0.0094	0.0085	0.0046	1.0	0.00964	T	1.0	0.01155	T	0.703	0.41913	P	0.072	0.28043	B	0.890391	0.08691	N	0.931128	1	0.08975	N	.	.	.	3.96	0.03354	T	-1.24	0.31375	N	0.028	0.00618	-1.0210	0.23389	T	0.002	0.00707	T	9	0.0026867688	0.00042	T	.	.	.	0.178	0.44724	.	.	.	.	0.05135879761021875	0.05077	0.0533753117732	0.05882	0.255381524563	0.04355	T	0.018359	0.14816	T	-0.733312	0.00023	T	-0.813804	0.01581	T	0.00720192549576328	0.00082	T	0.572743	0.20478	T	0.0153380595	0.00134	0.039670035	0.04115	0.0153380595	0.00134	0.039670035	0.04114	-4.478	0.30600	T	.	.	0.116	0.23290	B	.	.	1.207309	0.16000	12.25	0.16453813836953438	0.00442	0.29893	0.23941	N	AEFBCIJ	0.036139	0.04766	N	-0.99948591475944	0.08614	0.4046039	-1.02120673192991	0.09320	0.4629789	0.8625609320024	0.25254	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	2.41	0.28644	1.614000	0.36522	0.120000	0.14904	-1.900000	0.00525	0.391000	0.26096	0.000000	0.08366	0.086000	0.17578	0.0:0.6584:0.0:0.3416	7.694	0.27747	899	0.25060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1316.98	38	chr1	214641961	.	C	T	1316.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.94;DP=1342;ExcessHet=0.0000;FS=0.705;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.07;ReadPosRankSum=-7.140e-01;SOR=0.581	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr1	214642149	214642149	A	G	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon12:c.A3811G:p.K1271E,	Stromme syndrome, Autosomal recessive	.	432	1077	13	0	0	13	0.00599908	.	.	427696	CENPF-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.49	T	0.976	D	0.541	P	0.123	N	1.000	N	.	.	1.9	T	-1.086	T	0.035	T	0.148	0.280	5.517	3.92	0.763	1.450	7.288	0.079	0.0086182124351	0.0030	0.00119808	0.0027	0.0008	0.0014	0.0002	0.0009	0.0041	0.0033	0.0015	0.0028913	447	154602	rs62000407	0.0030	0.0030	0.0031	0.0030	0.0083	0.0030	0.0029	0.0064	0.0058	0.0004	0.0013	0.0010	5.04e-05	0.0010	0.0083	0.0036	0.0022	0.0014	0.0023	0.0023	0.0025	0.0021	0.0039	0.0021	0.0021	0.0035	0.0034	0.0008	0	0.0016	0.0020	0	0.0005	0.0102	0.0039	0.0038	0.0017	0.036	0.43393	D	0.411	0.14500	T	0.976	0.58310	D	0.541	0.48869	P	0.123087	0.18931	N	0.382752	1	0.08975	N	.	.	.	1.9	0.23486	T	-1.85	0.43334	N	0.202	0.22357	-1.0858	0.06263	T	0.035	0.15204	T	9	0.006287843	0.00142	T	0.008618	0.22779	T	0.079	0.23065	.	.	0.268211541103	0.26431	0.18739254633946212	0.18657	0.0769811076469	0.08643	0.264490783215	0.05437	T	0.022	0.17156	T	-0.547579	0.00302	T	-0.557831	0.16581	T	0.0198965651380359	0.00690	T	0.519248	0.16884	T	0.11722764	0.27639	0.13956138	0.33296	0.11722764	0.27639	0.13956138	0.33295	-5.465	0.41540	T	.	.	0.113	0.22208	B	.	.	1.242076	0.16382	12.50	0.97647392874809535	0.35114	0.25277	0.22650	N	AEFBCI	0.050955	0.08956	N	-0.270274547983208	0.30301	1.688297	-0.37274030841458	0.25812	1.421866	0.950660706911882	0.27909	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.06	3.92	0.44525	1.378000	0.33935	2.216000	0.31409	0.731000	0.85647	0.052000	0.21487	0.019000	0.20708	0.949000	0.49496	0.7069:0.1499:0.0:0.1432	7.288	0.25524	899	0.25060	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1375.98	38	chr1	214642149	.	A	G	1375.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.746e+00;DP=1384;ExcessHet=0.0000;FS=1.508;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=0.078;SOR=0.692	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr1	214645259	214645259	T	C	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.T5689C:p.F1897L,	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.81	T	0.012	B	0.006	B	0.387	N	0.996	N	0.9	L	1.98	T	-0.979	T	0.033	T	0.095	1.289	10.22	4.32	0.912	3.074	9.207	0.078	0.00980712402638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.14843	T	0.433	0.13595	T	.	.	.	.	.	.	0.387254	0.13306	N	0.622917	0.996025	0.23136	N	.	.	.	1.98	0.21865	T	-1.74	0.41239	N	0.163	0.17140	-0.9785	0.35345	T	0.033	0.14203	T	10	0.07286334	0.10934	T	0.009807	0.25586	T	0.078	0.22779	.	.	0.101711395817	0.09552	0.1427222850839343	0.14195	0.0596198842535	0.06628	0.393260717392	0.24128	T	.	.	.	-0.260978	0.12786	T	-0.612653	0.11770	T	0.274424522710853	0.23935	T	0.527047	0.17380	T	0.08159175	0.18754	0.074692726	0.16368	0.08159175	0.18754	0.074692726	0.16367	-2.043	0.03347	T	.	.	0.785	0.76596	P	.	.	1.885814	0.23953	16.21	0.97445370788974561	0.34002	0.87114	0.46557	D	AEFBCI	0.219672	0.34452	N	-0.641218653764995	0.17716	0.9139967	-0.539133036135939	0.21094	1.139528	0.992379880728038	0.32817	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.45	4.32	0.50899	3.081000	0.49818	1.110000	0.24149	0.644000	0.52426	1.000000	0.71638	0.016000	0.20520	0.957000	0.51019	0.0:0.1458:0.0:0.8542	9.207	0.36459	901	0.24189	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.1905	842.74	162	chr1	214645259	.	T	C	842.74	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-4.014e+00;DP=2279;ExcessHet=3.5521;FS=127.609;InbreedingCoeff=-0.2304;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=0.63;ReadPosRankSum=1.21;SOR=11.454	GT:AD:DP:GQ:PL	0/0:143,0:143:66:0,66,3217	13	0	8	0
chr1	214645556	214645556	A	G	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.A5986G:p.S1996G,	Stromme syndrome, Autosomal recessive	.	421	1098	2	1	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.0	B	0.0	B	0.506	N	1.000	N	-0.805	N	0.78	T	-1.033	T	0.053	T	0.103	-1.080	0.162	-2.13	-0.271	-0.077	13.061	0.057	0.00307557025383	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1420651187	4.104e-06	4.104e-06	5.445e-06	2.75e-06	5.396e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.402	0.10412	T	0.394	0.15305	T	.	.	.	.	.	.	0.506143	0.05120	N	1.366580	1	0.08975	N	.	.	.	0.78	0.49358	T	-1.06	0.27669	N	0.103	0.08646	-1.0330	0.19490	T	0.053	0.22655	T	10	0.043306947	0.03165	T	0.003076	0.06636	T	0.057	0.16321	.	.	0.0482279557977	0.04254	0.015535985324263656	0.01509	0.0497193645507	0.05451	0.249759674072	0.03742	T	.	.	.	-0.314934	0.07320	T	-0.674671	0.07313	T	0.0314089257149707	0.02212	T	0.489851	0.15048	T	0.026220506	0.01653	0.033440735	0.02239	0.026220506	0.01653	0.033440735	0.02239	-4.957	0.36370	T	.	.	0.056	0.00496	B	.	.	-0.330764	0.02486	0.290	0.60498897640054228	0.06478	0.01885	0.05793	N	AEFBCI	0.021908	0.01031	N	-1.42816029369839	0.02394	0.105666	-1.40199971513235	0.03232	0.150352	0.834263486472987	0.24748	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.23	-2.13	0.06745	-0.281000	0.08489	0.053000	0.14027	-0.168000	0.11412	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4817:0.0:0.5183:0.0	13.061	0.58416	901	0.24189	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1192.98	67	chr1	214645556	.	A	G	1192.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.540e-01;DP=1401;ExcessHet=0.0000;FS=2.502;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.05;ReadPosRankSum=0.083;SOR=0.468	GT:AD:DP:GQ:PL	0/0:73,0:73:99:0,120,1800	20	0	1	0
chr1	214646928	214646928	G	C	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.G7358C:p.R2453T,	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.0	B	0.0	B	0.663	N	1.000	N	-0.55	N	4.12	T	-0.893	T	0.004	T	0.055	0.020	4.119	1.68	0.088	0.779	5.783	0.040	0.00712553887273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.852e-07	0.0001	1.364e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.351	0.12265	T	0.155	0.31936	T	.	.	.	.	.	.	0.662890	0.10412	N	0.800711	1	0.08975	N	.	.	.	4.12	0.02891	T	-1.2	0.30555	N	0.086	0.06322	-0.8929	0.48677	T	0.004	0.01400	T	10	0.042184114	0.02943	T	0.007126	0.18896	T	0.040	0.10527	.	.	0.0611884634855	0.05136	0.0757247840033901	0.07508	0.0964886587777	0.10898	0.305488526821	0.11225	T	.	.	.	-0.357922	0.04248	T	-0.751907	0.03412	T	0.078707791864872	0.09821	T	0.586341	0.21412	T	0.023646625	0.01122	0.026679387	0.00771	0.023646625	0.01122	0.026679387	0.00771	-0.003	0.00350	T	.	.	0.053	0.00280	B	.	.	0.422405	0.07928	4.638	0.30367532224271809	0.01657	0.11969	0.16977	N	AEFBCI	0.060270	0.11442	N	-1.24191438059187	0.04407	0.1988328	-1.17781697995167	0.06282	0.3018846	0.831134689009249	0.24696	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.31	1.68	0.23219	2.487000	0.44926	4.177000	0.42312	-0.142000	0.12367	0.512000	0.27048	0.990000	0.31317	0.015000	0.10482	0.6981:0.1476:0.1543:0.0	5.783	0.17581	902	0.24074	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.03125	297.36	50	chr1	214646928	.	G	C	297.36	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-4.346e+00;DP=1200;ExcessHet=0.0000;FS=103.626;InbreedingCoeff=-0.1088;MLEAC=1;MLEAF=0.031;MQ=60.00;MQRankSum=0.00;QD=4.07;ReadPosRankSum=2.52;SOR=5.992	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:59,0:59:0:.:.:0,0,1126	15	0	1	5
chr1	214646930	214646930	G	C	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.G7360C:p.V2454L,	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.002	B	0.003	B	0.567	N	1.000	N	1.245	L	4.14	T	-0.931	T	0.006	T	0.188	1.611	11.34	-6.04	-0.716	-0.317	3.579	0.026	0.00381706677572	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	2.204e-05	0.0007	2.469e-05	1.937e-05	2.72e-05	1.595e-05	1.365e-05	1.929e-05	1.674e-05	0	0	0	0	0	0	2.72e-05	0	2.327e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	0.06381	T	0.487	0.11656	T	.	.	.	.	.	.	0.566742	0.11280	N	0.718309	1	0.08975	N	.	.	.	4.14	0.02839	T	-0.12	0.08809	N	0.073	0.04668	-0.9310	0.43992	T	0.006	0.02093	T	10	0.0506604	0.04832	T	0.003817	0.08930	T	0.026	0.05648	.	.	0.0482279557977	0.04254	0.042620842135663806	0.04207	0.0532628163546	0.05870	0.319711267948	0.13377	T	.	.	.	-0.296986	0.08946	T	-0.664376	0.07973	T	0.0218487251549959	0.00892	T	0.460354	0.13329	T	0.018291825	0.00350	0.023291185	0.00344	0.018291825	0.00350	0.023291185	0.00344	-5.111	0.38023	T	.	.	0.141	0.30997	B	.	.	-0.701800	0.01316	0.072	0.77479503225080271	0.11893	0.09240	0.15036	N	AEFBCI	0.049360	0.08519	N	-1.32844011772452	0.03354	0.1496695	-1.42160385817231	0.03037	0.1408993	0.998312909651027	0.36741	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.31	-6.04	0.01995	-0.544000	0.06166	0.537000	0.19299	-0.177000	0.10537	0.002000	0.15269	0.000000	0.08366	0.006000	0.07323	0.5449:0.1791:0.1778:0.0981	3.579	0.07497	902	0.24074	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.1667	297.28	43	chr1	214646930	.	G	C	297.28	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-3.275e+00;DP=992;ExcessHet=0.0000;FS=104.040;InbreedingCoeff=-0.3126;MLEAC=3;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=3.86;ReadPosRankSum=2.47;SOR=5.992	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:50,0:50:0:.:.:0,0,749	2	0	1	18
chr1	214646931	214646931	T	C	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.T7361C:p.V2454A,	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.435	B	0.057	B	0.567	N	1.000	N	1.59	L	4.0	T	-0.965	T	0.012	T	0.19	1.993	12.62	4.15	0.916	2.501	11.743	0.070	0.00974191051461	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.159e-06	4.797e-05	2.875e-06	1.441e-06	2.847e-06	5.8e-07	1.6e-07	7.6e-07	2.1e-07	0	0	0	0	0	0	2.847e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.17014	T	0.072	0.43344	T	.	.	.	.	.	.	0.566742	0.11280	N	0.718309	1	0.08975	N	.	.	.	4.0	0.03239	T	-1.36	0.33798	N	0.179	0.19325	-0.9649	0.38230	T	0.012	0.04795	T	10	0.092561364	0.16310	T	0.009742	0.25427	T	0.070	0.20419	.	.	0.152612264143	0.14878	0.04371255466377703	0.04316	0.0909071673723	0.10264	0.333911955357	0.15524	T	.	.	.	-0.242065	0.15086	T	-0.585486	0.14060	T	0.237755138924087	0.22315	T	0.333767	0.07077	T	0.046866454	0.07918	0.049815547	0.07689	0.046866454	0.07917	0.049815547	0.07688	-6.837	0.52834	T	.	.	0.139	0.30529	B	.	.	0.689044	0.10575	7.283	0.87599106332301113	0.17343	0.46589	0.27793	N	AEFBCI	0.075119	0.15077	N	-0.562916688312051	0.20081	1.055942	-0.606986143950877	0.19313	1.035632	0.992357406538036	0.32809	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.31	4.15	0.47978	1.863000	0.39097	0.125000	0.14969	0.644000	0.52426	0.011000	0.18532	0.000000	0.08366	0.006000	0.07323	0.0:0.0:0.1478:0.8522	11.743	0.51072	902	0.24074	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.25	302.15	43	chr1	214646931	.	T	C	302.15	.	AC=1;AF=0.250;AN=4;BaseQRankSum=-2.638e+00;DP=993;ExcessHet=0.0000;FS=107.433;InbreedingCoeff=-0.3335;MLEAC=3;MLEAF=0.750;MQ=60.00;MQRankSum=0.00;QD=3.98;ReadPosRankSum=2.42;SOR=5.992	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:50,0:50:0:.:.:0,0,749	1	0	1	19
chr1	215625828	215625828	T	C	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon72:c.A15562G:p.S5188G,	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	.	0	1499	22	1	0	24	0.00794176	.	.	57630	Retinal_dystrophy|not_provided|Retinitis_pigmentosa_39|Usher_syndrome_type_2A|not_specified|Usher_syndrome	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:C3661900|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886|MedGen:CN169374|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:886	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.06	T	0.911	P	0.31	B	0.000	U	1.000	D	0.975	L	0.93	T	-1.134	T	0.018	T	0.379	3.960	20.3	5.93	2.273	5.773	16.374	0.075	.	0.0025	0.0245607	0.0135	0.0009	0.0022	0.0196	0.0024	0.0032	0.0198	0.0715	0.0123608	1911	154602	rs58257972	0.0092	0.0092	0.0075	0.0108	0.0684	0.0090	0.0090	0.0669	0.0663	0.0007	0.0021	0.0001	0.0493	0.0025	0.0050	0.0042	0.0092	0.0684	0.0060	0.0061	0.0047	0.0074	0.0704	0.0057	0.0056	0.0642	0.0618	0.0011	0	0.0059	0.0006	0.0293	0.0043	0.0034	0.0034	0.0052	0.0704	0.065	0.36310	T	0.013	0.63109	D	0.911	0.50336	P	0.31	0.41396	B	0.000104	0.50451	U	0.000000	0.999899	0.50595	D	2.595	0.75868	M	0.93	0.44065	T	-1.7	0.40468	N	0.128	0.12198	-1.1337	0.01613	T	0.018	0.07423	T	10	0.0023053288	0.00034	T	.	.	.	0.075	0.21907	.	.	.	.	0.18076143519848317	0.17995	0.0650604241085	0.07269	0.494169771671	0.38018	T	0.107218	0.41923	T	-0.472138	0.00824	T	-0.382426	0.35439	T	0.022767670427268	0.00996	T	0.821518	0.48098	T	0.19535062	0.41321	0.18983269	0.42352	0.18540062	0.39901	0.18322101	0.41297	-3.989	0.23639	T	0.6026391723891807	0.66976	0.106	0.19518	B	.	.	2.941184	0.39102	20.9	0.99604025306166655	0.74397	0.96956	0.71866	D	AEFBI	0.842606	0.75970	D	0.378480076214184	0.60259	4.212758	0.48065607982663	0.66710	4.987552	0.905040445356246	0.26194	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.93	5.93	0.95888	5.553000	0.66992	7.865000	0.71651	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	16.374	0.83208	685	0.59416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	673.98	34	chr1	215625828	.	T	C	673.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.377e+00;DP=753;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.72;ReadPosRankSum=-1.463e+00;SOR=0.756	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1200	20	0	1	0
chr1	215634680	215634680	T	C	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon70:c.A15076G:p.K5026E,	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	.	0	1499	22	1	0	24	0.00794176	.	.	57615	Retinitis_pigmentosa_39|Usher_syndrome_type_2A|Retinal_dystrophy|not_specified|not_provided	MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.075	N	1.000	N	-1.7	N	2.71	T	-0.943	T	0.001	T	0.087	-1.556	0.015	3.88	0.340	1.632	8.328	0.050	.	0.0018	0.024361	0.0134	0.0009	0.0022	0.0196	0.0024	0.0032	0.0198	0.0710	0.0122508	1894	154602	rs41308435	0.0092	0.0092	0.0075	0.0108	0.0680	0.0090	0.0090	0.0666	0.0660	0.0007	0.0021	0.0001	0.0493	0.0025	0.0050	0.0042	0.0092	0.0680	0.0061	0.0061	0.0048	0.0075	0.0711	0.0058	0.0056	0.0649	0.0625	0.0011	0	0.0060	0.0006	0.0295	0.0043	0.0034	0.0034	0.0052	0.0711	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.075450	0.21222	N	0.326339	1	0.08975	N	-2.045	0.00177	N	2.71	0.12055	T	1.0	0.01408	N	0.062	0.03392	-0.9425	0.42218	T	0.001	0.00467	T	10	0.0022268891	0.00032	T	.	.	.	0.050	0.13987	.	.	.	.	0.12961984811485416	0.12886	0.0363797811208	0.03848	0.239362895489	0.02733	T	0.016122	0.13389	T	-0.723188	0.00026	T	-0.758937	0.03151	T	0.00052410150990314	0.00004	T	0.145985	0.01199	T	0.0670068	0.14472	0.06250987	0.12239	0.0670068	0.14471	0.06250987	0.12239	-2.602	0.06519	T	0.03787707487418605	0.00266	0.048	0.00084	B	.	.	1.017175	0.13964	10.53	0.49181202070686508	0.04166	0.00117	0.00738	N	AEFBI	0.026096	0.01899	N	-1.37015618602642	0.02921	0.1297333	-1.20933016884109	0.05759	0.2753165	0.00473843210645551	0.10692	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.82	3.88	0.43959	1.718000	0.37622	2.654000	0.33835	-0.171000	0.11205	0.080000	0.22340	0.027000	0.21108	0.108000	0.18652	0.0:0.628:0.241:0.131	8.328	0.31330	677	0.60274	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1731.98	34	chr1	215634680	.	T	C	1731.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.534e+00;DP=825;ExcessHet=0.0000;FS=4.180;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=-1.664e+00;SOR=1.067	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr1	215648567	215648567	C	T	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon66:c.G14543A:p.R4848Q,	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	.	0	1505	16	1	0	18	0.00594452	.	.	57606	Retinal_dystrophy|Retinitis_pigmentosa_39|Usher_syndrome_type_2A|not_specified|not_provided	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.46	T	0.0	B	0.0	B	0.108	N	1.000	N	-1.32	N	0.43	T	-1.039	T	0.007	T	0.055	-0.667	1.081	1.99	0.073	1.507	5.286	0.072	.	0.0027	0.0223642	0.0122	0.0011	0.0020	0.0200	0.0024	0.0033	0.0198	0.0621	0.0111965	1731	154602	rs77211159	0.0087	0.0087	0.0072	0.0101	0.0597	0.0086	0.0085	0.0583	0.0578	0.0008	0.0021	0.0002	0.0506	0.0025	0.0043	0.0043	0.0083	0.0597	0.0059	0.0059	0.0047	0.0071	0.0633	0.0056	0.0054	0.0575	0.0552	0.0012	0	0.0060	0.0006	0.0294	0.0043	0.0034	0.0035	0.0052	0.0633	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.108214	0.19537	N	0.364019	0.999895	0.19781	N	-1.505	0.00499	N	0.43	0.56772	T	1.07	0.01280	N	0.038	0.01203	-1.0393	0.17526	T	0.007	0.02558	T	10	0.008491486	0.00192	T	.	.	.	0.072	0.21020	.	.	.	.	0.15417584724155026	0.15338	0.0324909400242	0.03394	0.237938925624	0.02608	T	0.018955	0.15187	T	-0.664184	0.00059	T	-0.658287	0.08382	T	0.00136844069469266	0.00014	T	0.383762	0.09387	T	0.016000781	0.00170	0.028994076	0.01190	0.016000781	0.00170	0.028994076	0.01189	-1.964	0.03048	T	0.034580702510101174	0.00171	0.056	0.00428	B	.	.	1.084955	0.14682	11.24	0.31995859724849318	0.01831	0.03042	0.07933	N	AEFBI	0.049871	0.08659	N	-0.979324753786118	0.09046	0.4265282	-0.769382210095482	0.15247	0.8009201	0.00109332590400276	0.08217	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.63	1.99	0.25423	1.546000	0.35787	-0.196000	0.10991	-0.673000	0.04287	1.000000	0.71638	0.046000	0.21717	0.014000	0.10232	0.1204:0.2006:0.0:0.6789	5.286	0.15010	671	0.60868	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	2179.98	42	chr1	215648567	.	C	T	2179.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=868;ExcessHet=0.0000;FS=1.941;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=-2.790e-01;SOR=0.867	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1336	20	0	1	0
chr1	215671031	215671031	C	T	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon64:c.G14074A:p.G4692R,	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	YES	0	1493	28	1	0	30	0.00994695	.	.	57589	Retinitis_pigmentosa_39|Usher_syndrome_type_2A|not_specified|not_provided	MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.51	T	1.0	D	0.987	D	0.001	U	1.000	D	1.555	L	0.46	T	-0.776	T	0.190	T	0.974	3.861	19.61	4.17	1.264	3.440	13.484	0.433	0.56446389033	0.0048	0.00219649	0.0048	0.0014	0.0022	0	0.0023	0.0072	0.0011	0.0027	0.0050517	781	154602	rs45549044	0.0067	0.0067	0.0068	0.0066	0.0080	0.0066	0.0066	0.0078	0.0078	0.0012	0.0022	0.0004	5.038e-05	0.0027	0.0052	0.0080	0.0059	0.0032	0.0042	0.0042	0.0045	0.0039	0.0075	0.0039	0.0038	0.0069	0.0067	0.0015	0.0055	0.0014	0	0	0.0016	0.0102	0.0075	0.0043	0.0035	0.041	0.41915	D	0.006	0.70582	D	1.0	0.90584	D	0.987	0.77487	D	0.000996	0.40743	U	0.000000	0.972881	0.38981	D	1.63	0.41750	L	0.46	0.56281	T	-3.9	0.72932	D	0.751	0.75009	-0.7756	0.56548	T	0.190	0.54213	T	10	0.01668179	0.00353	T	0.564464	0.96037	D	0.433	0.73879	0.764	0.89213	0.873267043112	0.87203	0.6539209591646689	0.65328	0.228862989454	0.25439	0.423841416836	0.28365	T	0.313544	0.68529	T	-0.106726	0.35311	T	0.0875454	0.76081	D	0.0187997115715382	0.00591	T	0.859714	0.55187	D	0.2388664	0.46770	0.30004802	0.56038	0.2388664	0.46770	0.30004802	0.56037	-10.165	0.74893	D	0.7067154624936425	0.78641	0.345	0.56218	A	.	.	3.947307	0.57808	23.9	0.99580028881389804	0.72921	0.82560	0.41771	D	AEFI	0.265091	0.38229	N	0.186135652831798	0.50535	3.242436	0.102961599110356	0.44699	2.746691	0.311064590805169	0.19287	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.09	4.17	0.48303	3.484000	0.52965	5.915000	0.51078	0.599000	0.40250	0.994000	0.38300	1.000000	0.68203	0.796000	0.37562	0.0:0.9246:0.0:0.0754	13.484	0.60812	656	0.62345	Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1928.98	38	chr1	215671031	.	C	T	1928.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.012e+00;DP=859;ExcessHet=0.0000;FS=1.908;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.41;ReadPosRankSum=-8.390e-01;SOR=0.539	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1258	20	0	1	0
chr1	215680331	215680331	T	C	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon62:c.A12112G:p.T4038A,	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	.	0	1516	5	1	0	7	0.00230339	.	.	858903	Usher_syndrome_type_2A|Inborn_genetic_diseases|not_provided|Retinitis_pigmentosa_39	MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.69	T	0.992	D	0.887	P	0.000	D	1.000	N	1.39	L	0.4	T	-0.736	T	0.216	T	0.559	0.702	7.744	5.26	1.991	1.880	15.186	0.243	0.322929554422	.	.	3.299e-05	0	0	0	0	5.996e-05	0	0	2.59e-05	4	154602	rs754979740	4.583e-05	4.583e-05	5.717e-05	3.438e-05	0.0010	3.661e-05	3.347e-05	0.0005	0.0003	0	0	0	0	0	0.0010	4.946e-05	9.934e-05	0	2.629e-05	2.627e-05	2.57e-05	2.691e-05	6.551e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.551e-05	0	0	0	0	4.41e-05	0	0	0.137	0.25979	T	0.058	0.46182	T	0.992	0.64738	D	0.887	0.62952	P	0.000296	0.46274	D	0.000000	0.526296	0.31528	N	1.76	0.45711	L	0.4	0.57261	T	-2.37	0.52289	N	0.094	0.07398	-0.7363	0.58642	T	0.216	0.57745	T	10	0.61584055	0.67700	D	0.32293	0.91528	D	0.243	0.54921	.	.	0.837083782604	0.83553	0.4737459772398402	0.47293	0.0335984887463	0.03527	0.322042942047	0.13731	T	0.095618	0.39657	T	-0.157273	0.27182	T	-0.307322	0.43947	T	0.133371478305574	0.15690	T	0.552645	0.19087	T	0.14400096	0.33072	0.17915915	0.40633	0.14400096	0.33072	0.17915915	0.40632	-5.196	0.38901	T	0.457450626276204	0.54020	0.073	0.04558	B	.	.	0.802268	0.11727	8.307	0.90258052451502069	0.19528	0.90504	0.51735	D	AEFBI	0.260781	0.37886	N	0.0634956574525399	0.44764	2.744671	-0.0032997096804105	0.39566	2.347937	0.0170806997554493	0.12909	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.26	5.26	0.73479	1.880000	0.39263	0.137000	0.15122	0.665000	0.62972	0.963000	0.33788	0.000000	0.08366	0.088000	0.17685	0.0:0.0:0.0:1.0	15.186	0.72687	656	0.62345	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2038.98	34	chr1	215680331	.	T	C	2038.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.627;DP=834;ExcessHet=0.0000;FS=3.218;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.56;ReadPosRankSum=1.71;SOR=0.448	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1258	20	0	1	0
chr1	216046516	216046516	C	A	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon32:c.G6240T:p.K2080N,	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	YES	1	1498	23	0	0	23	0.00761842	.	.	57717	not_specified|Retinitis_pigmentosa_39|not_provided|Retinitis_pigmentosa|Usher_syndrome_type_2A	MedGen:CN169374|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.3	T	0.883	P	0.299	B	0.157	N	1.000	N	1.89	L	0.64	T	-1.028	T	0.078	T	0.056	1.808	12.00	0.708	-0.059	0.421	8.903	0.107	.	0.0100	0.00399361	0.0059	0.0106	0.0048	0	0.0030	0.0078	0.0066	0.0006	0.0062095	960	154602	rs114402911	0.0070	0.0070	0.0072	0.0068	0.0097	0.0069	0.0068	0.0089	0.0085	0.0097	0.0048	0.0074	0	0.0020	0.0068	0.0080	0.0067	0.0009	0.0073	0.0073	0.0075	0.0071	0.0095	0.0069	0.0068	0.0087	0.0084	0.0095	0	0.0095	0.0075	0	0.0018	0.0272	0.0073	0.0080	0.0004	0.041	0.41915	D	0.013	0.63109	D	0.883	0.48537	P	0.299	0.41006	B	0.157149	0.17778	N	0.464297	0.976066	0.25396	N	1.765	0.45800	L	0.64	0.52867	T	-1.6	0.38540	N	0.087	0.06454	-1.0276	0.21233	T	0.078	0.31103	T	10	0.008006275	0.00182	T	.	.	.	0.107	0.30369	0.473	0.54859	0.871063477412	0.86980	0.4193150408643054	0.41847	0.0456341534263	0.04953	0.268486261368	0.05945	T	0.066692	0.33011	T	-0.601815	0.00142	T	-0.624269	0.10853	T	0.0247992906463363	0.01247	T	0.632737	0.24712	T	0.11614702	0.27398	0.096927784	0.23050	0.11614702	0.27398	0.096927784	0.23049	-3.633	0.18335	T	0.2511460964332233	0.33986	0.220	0.45024	B	.	.	1.287203	0.16875	12.82	0.98589201794234105	0.43349	0.68701	0.33902	D	AEFDBIJ	0.147190	0.27080	N	-0.214522887373214	0.32537	1.836038	-0.213457198696788	0.31051	1.753796	0.989790624125851	0.31938	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.58	0.708	0.17301	0.412000	0.20852	-0.198000	0.10972	-0.181000	0.10308	1.000000	0.71638	0.000000	0.08366	0.990000	0.65344	0.0:0.2963:0.0:0.7037	8.903	0.34663	812	0.42537	Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	875.98	46	chr1	216046516	.	C	A	875.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.150e-01;DP=868;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.55;ReadPosRankSum=0.739;SOR=0.656	GT:AD:DP:GQ:PL	0/1:44,39:83:99:890,0,1087	20	0	1	0
chr1	216196690	216196690	G	A	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_007123:exon19:c.C4114T:p.P1372S	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.242	B	0.135	B	0.063	N	1.000	N	1.455	L	0.51	T	-1.008	T	0.111	T	0.24	1.482	10.90	0.816	-0.081	1.518	8.540	0.044	0.0200889188104	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1238218662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.24090	T	0.079	0.42086	T	0.126	0.30930	B	0.077	0.33210	B	0.063196	0.22043	N	0.322809	1	0.08975	N	2.155	0.60227	M	0.51	0.55439	T	-2.5	0.57762	D	0.288	0.32591	-1.0079	0.27572	T	0.111	0.39888	T	10	0.27650487	0.45213	T	0.020089	0.42610	T	0.044	0.11924	0.307	0.27806	0.840474865628	0.83894	0.3102111697246121	0.30934	0.0443795033978	0.04785	0.338540047407	0.16219	T	0.225741	0.59056	T	-0.161963	0.26460	T	-0.470425	0.25471	T	0.505415797233582	0.32828	D	0.725127	0.33902	T	0.044708733	0.07193	0.08010328	0.18091	0.044708733	0.07192	0.08010328	0.18090	-5.239	0.43542	T	0.818241376983881	0.89179	0.113	0.29642	B	.;.	.;.	0.588813	0.09571	6.348	0.74043673421378331	0.10549	0.65661	0.32812	D	AEFI	0.116323	0.22834	N	-0.643086739975951	0.17662	0.9107448	-0.644909326722461	0.18346	0.9795938	1.29157689798698E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.96	0.816	0.17909	1.584000	0.36199	0.803000	0.21677	0.676000	0.76740	0.957000	0.33433	0.173000	0.23359	0.148000	0.20235	0.1272:0.354:0.5188:0.0	8.540	0.32549	855	0.34697	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1030.98	34	chr1	216196690	.	G	A	1030.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.000e-03;DP=757;ExcessHet=0.0000;FS=2.119;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.73;ReadPosRankSum=-1.540e-01;SOR=0.435	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1213	20	0	1	0
chr1	216198340	216198340	C	G	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_007123:exon18:c.G4056C:p.W1352C	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	1.0	D	0.001	U	1.000	D	3.235	M	0.58	T	-0.044	T	0.448	T	0.873	3.880	19.72	5.56	2.619	4.810	19.536	0.373	0.125635589755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.90584	D	0.915	0.97372	D	0.000972	0.40836	U	0.000000	1	0.81001	D	3.715	0.94732	H	0.58	0.54149	T	-8.26	0.97942	D	0.745	0.76853	-0.0441	0.81331	T	0.448	0.78318	T	10	0.83187044	0.82349	D	0.125636	0.80718	D	0.373	0.69188	0.391	0.41443	0.844514592233	0.84302	0.6634171615678081	0.66278	0.153881245274	0.17371	0.500940382481	0.38959	T	0.393815	0.75312	T	0.267661	0.80231	D	0.147	0.79975	D	0.999572217464447	0.97978	D	0.80342	0.45053	T	0.8991477	0.91306	0.85981107	0.92166	0.8991477	0.91308	0.85981107	0.92166	-12.194	0.86685	D	0.7804321588867548	0.86039	0.838	0.79500	P	.;.	.;.	3.553470	0.49967	22.9	0.99193955044977311	0.55053	0.97939	0.78280	D	AEFI	0.642414	0.61940	D	0.815104492602586	0.87043	9.083311	0.751415195389132	0.86263	8.833466	0.999969816312926	0.48965	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.56	5.56	0.83678	4.885000	0.62834	4.855000	0.45413	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	19.536	0.95248	851	0.35303	Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	681.98	61	chr1	216198340	.	C	G	681.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.111e+00;DP=751;ExcessHet=0.0000;FS=1.255;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=-2.900e-02;SOR=0.951	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1169	20	0	1	0
chr1	216232115	216232115	T	G	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_007123:exon14:c.A2831C:p.N944T	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.03	B	0.03	B	0.005	N	1.000	N	2.46	M	0.17	T	-0.879	T	0.176	T	0.091	0.990	9.041	-0.657	-0.302	0.159	8.036	0.101	0.0253921193833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.31235	T	0.238	0.24549	T	0.002	0.20002	B	0.012	0.21741	B	0.004797	0.33389	N	0.134780	1	0.08975	N	2.035	0.55589	M	0.17	0.60485	T	-1.34	0.44094	N	0.222	0.26717	-0.8787	0.49864	T	0.176	0.52006	T	10	0.14085555	0.26770	T	0.025392	0.48361	D	0.101	0.28911	0.469	0.54214	0.768516534249	0.76639	0.2809210607673612	0.28005	0.0327223876273	0.03419	0.288145601749	0.08653	T	0.079824	0.36220	T	-0.22353	0.17514	T	-0.558862	0.16483	T	0.171943739056587	0.18711	T	0.626037	0.24205	T	0.060056146	0.12279	0.074403785	0.16272	0.060056146	0.12279	0.074403785	0.16271	-4.52	0.33197	T	0.5244025356249031	0.59618	0.134	0.29172	B	.;.	.;.	1.247891	0.16441	12.54	0.93327410644957332	0.23050	0.09536	0.15270	N	AEFI	0.088211	0.17884	N	-1.00810160790635	0.08435	0.3954789	-1.0426614768163	0.08860	0.4377587	1.23401624879354E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.91	-0.657	0.10858	0.164000	0.16359	-0.059000	0.12448	-0.118000	0.14412	0.024000	0.20007	0.069000	0.22184	0.970000	0.54328	0.0:0.4535:0.1218:0.4247	8.036	0.29651	896	0.25515	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	975.98	34	chr1	216232115	.	T	G	975.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.786e+00;DP=782;ExcessHet=0.0000;FS=2.675;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.14;ReadPosRankSum=-4.620e-01;SOR=1.276	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1309	20	0	1	0
chr1	216246872	216246872	G	T	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_007123:exon13:c.C2522A:p.S841Y	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	57649	not_specified|Usher_syndrome_type_2A|not_provided|Retinitis_pigmentosa|Progressive_cone_dystrophy_(without_rod_involvement)|Usher_syndrome|Hearing_impairment	MedGen:CN169374|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:C0271092|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:886|Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.14	T	1.0	D	0.977	D	0.001	D	1.000	D	1.48	L	0.05	T	-0.513	T	0.307	T	0.744	2.517	14.38	6.03	2.861	5.651	20.557	0.426	.	0.0053	0.00159744	0.0063	0.0021	0.0007	0	0.0144	0.0092	0.0099	0.0011	0.0063389	980	154602	rs111033282	0.0071	0.0071	0.0073	0.0069	0.0081	0.0069	0.0069	0.0079	0.0079	0.0013	0.0013	0.0009	0	0.0140	0.0035	0.0081	0.0058	0.0014	0.0054	0.0054	0.0056	0.0053	0.0078	0.0051	0.0050	0.0072	0.0070	0.0015	0	0.0043	0.0014	0	0.0139	0.0034	0.0078	0.0047	0.0010	0.005	0.63226	D	0.0	0.92824	D	1.0	0.90584	D	0.977	0.73820	D	0.000666	0.42516	D	0.000000	0.999973	0.53665	D	1.5	0.37844	L	0.05	0.61923	T	-2.57	0.60507	D	0.614	0.68255	-0.5131	0.68173	T	0.307	0.67804	T	10	0.009670943	0.00218	T	.	.	.	0.426	0.73372	.	.	0.973715272946	0.97343	0.7469224423326226	0.74638	0.253178669661	0.27889	0.404044389725	0.25631	T	0.094549	0.39438	T	-0.221333	0.17811	T	-0.082745	0.64703	T	0.0251198657723426	0.01289	T	0.764624	0.39166	T	0.1728097	0.37993	0.27341396	0.53260	0.2587229	0.48922	0.2422785	0.49644	-7.443	0.57208	T	0.7988940528498266	0.87603	0.155	0.34227	B	.;.	.;.	3.560151	0.50089	22.9	0.99346482966849348	0.60412	0.95785	0.66143	D	AEFDGBIJ	0.613596	0.60123	D	0.47911030691727	0.65871	4.877345	0.424038476179719	0.63066	4.533223	0.999567091052158	0.40425	0.616025	0.39624	0	0.573888	0.26702	0	0.574621	0.27300	0	0.564101	0.26826	0	.	.	6.03	6.03	0.97798	3.951000	0.56392	9.895000	0.82304	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.262000	0.23568	0.0:0.0:1.0:0.0	20.557	0.99307	869	0.31655	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1751.98	34	chr1	216246872	.	G	T	1751.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.012e+00;DP=863;ExcessHet=0.0000;FS=1.259;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=-2.191e+00;SOR=0.560	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1198	20	0	1	0
chr1	216289360	216289360	C	T	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_007123:exon11:c.G1891A:p.D631N	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	584458	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.45	T	0.151	B	0.062	B	0.000	D	0.996	D	1.825	L	2.56	T	-1.113	T	0.052	T	0.064	2.853	15.50	4.51	2.712	3.286	13.951	0.072	0.00780004170661	.	0.000199681	0.0001	0	0	0	0	0	0	0.0011	0.0001229	19	154602	rs552400144	8.073e-05	8.072e-05	4.493e-05	0.0001	0.0012	6.868e-05	6.421e-05	0.0010	0.0010	2.987e-05	0	0	0	0	0.0003	8.994e-07	0.0001	0.0012	3.939e-05	3.937e-05	3.854e-05	4.028e-05	0.0012	1.714e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.36	0.15303	T	0.387	0.28210	T	0.151	0.28027	B	0.062	0.26930	B	0.000408	0.44736	D	0.000000	0.996318	0.43134	D	1.745	0.45235	L	2.56	0.19860	T	-1.14	0.31778	N	0.341	0.38232	-1.1132	0.02809	T	0.052	0.21921	T	10	0.040113956	0.02553	T	0.008	0.20694	T	0.072	0.21020	0.439	0.49321	0.858411425167	0.85704	0.6512583296511882	0.65061	0.0485055709482	0.05301	0.409390985966	0.26372	T	0.05509	0.29909	T	-0.589798	0.00168	T	-0.676329	0.07210	T	0.083727542400145	0.10458	T	0.766723	0.39447	T	0.092406034	0.21677	0.07651878	0.16954	0.092406034	0.21676	0.07651878	0.16954	-4.862	0.35305	T	.	.	0.092	0.14108	B	.;.	.;.	3.019632	0.40410	21.2	0.99816847366913641	0.89973	0.91057	0.52775	D	AEFDIJ	0.268287	0.38482	N	0.000615715169083722	0.41883	2.513296	0.156094684961013	0.47466	2.976391	0.113510539115499	0.16710	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.43	4.51	0.54589	3.185000	0.50635	2.209000	0.31352	0.599000	0.40250	0.995000	0.38783	0.978000	0.30204	0.773000	0.36634	0.0:0.9268:0.0:0.0732	13.951	0.63631	872	0.31118	Laminin EGF domain|Laminin EGF domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1860.98	36	chr1	216289360	.	C	T	1860.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.950e-01;DP=885;ExcessHet=0.0000;FS=0.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=0.614;SOR=0.600	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr1	216292310	216292310	C	T	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_007123:exon10:c.G1705A:p.A569T	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1926028	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	0.669	P	0.077	B	0.001	U	1.000	D	1.975	M	-0.06	T	-0.657	T	0.200	T	0.589	3.001	16.01	4.81	2.230	0.885	17.901	0.225	0.0527405096925	7.7e-05	.	8.242e-06	9.612e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs138739049	6.841e-06	6.84e-06	6.807e-06	6.876e-06	8.094e-06	3.46e-06	2.52e-06	3.81e-06	2.76e-06	0	0	0	0	1.872e-05	0	8.094e-06	0	0	6.576e-06	6.568e-06	1.286e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.104	0.32141	T	0.005	0.72224	D	0.669	0.41149	P	0.039	0.28532	B	0.000801	0.41772	U	0.000000	0.999998	0.58761	D	1.565	0.39561	L	-0.06	0.63568	T	-1.57	0.43334	N	0.234	0.29544	-0.6567	0.62421	T	0.200	0.55640	T	10	0.22480741	0.39294	T	0.052741	0.65193	D	0.225	0.52323	.	.	0.867388827334	0.86610	0.6568411483357168	0.65621	0.0341533240983	0.03587	0.285699129105	0.08299	T	0.080422	0.36360	T	-0.158661	0.26966	T	-0.284154	0.46377	T	0.72335284948349	0.41869	D	0.759724	0.39073	T	0.11999049	0.28243	0.11900778	0.28726	0.11999049	0.28243	0.11900778	0.28725	-6.546	0.50640	T	.	.	0.084	0.17146	B	.;.	.;.	1.616012	0.20643	14.84	0.99581357441269125	0.73040	0.51326	0.28870	D	AEFI	0.259523	0.37785	N	-0.171052695026178	0.34344	1.959113	-0.1621062230962	0.32944	1.879432	0.0653599225727115	0.15358	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.81	4.81	0.61401	0.811000	0.26855	0.335000	0.17323	0.549000	0.26987	0.303000	0.25352	0.020000	0.20764	0.998000	0.85391	0.0:1.0:0.0:0.0	17.901	0.88821	855	0.34697	Laminin EGF domain|Laminin EGF domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1640.98	34	chr1	216292310	.	C	T	1640.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.663;DP=802;ExcessHet=0.0000;FS=4.845;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.65;ReadPosRankSum=-2.280e-01;SOR=1.209	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr1	216292337	216292337	G	A	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_007123:exon10:c.C1678T:p.P560S	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	1470851	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.975	D	0.018	N	1.000	D	3.13	M	0.08	T	-0.198	T	0.405	T	0.299	3.567	18.18	3.9	1.041	3.836	9.037	0.507	0.265531050967	7.7e-05	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs147509797	4.105e-06	4.104e-06	4.084e-06	4.126e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.041	0.50514	D	0.999	0.77913	D	0.96	0.73362	D	0.017740	0.27651	N	0.170250	1	0.81001	D	2.925	0.84406	M	0.08	0.61559	T	-4.86	0.82221	D	0.616	0.63204	-0.1978	0.77727	T	0.405	0.75501	T	10	0.76943696	0.76963	D	0.265531	0.89677	D	0.507	0.78786	.	.	0.918473588734	0.91765	0.8522833187631198	0.85190	0.238160017466	0.26361	0.391883283854	0.23935	T	0.400848	0.75831	T	-0.0522605	0.44103	T	-0.312845	0.43353	T	0.990870177745819	0.81111	D	0.715328	0.32778	T	0.2519444	0.48207	0.28536314	0.54539	0.2519444	0.48207	0.28536314	0.54538	-8.289	0.64217	D	.	.	0.211	0.48908	B	.;.	.;.	3.070662	0.41274	21.3	0.99853801270509912	0.93279	0.91730	0.54141	D	AEFI	0.484885	0.52471	N	0.462652642526532	0.64923	4.758281	0.375675220774263	0.60068	4.190509	0.0015309404475454	0.08613	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.81	3.9	0.44240	3.747000	0.54853	4.303000	0.42946	-0.161000	0.11593	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0787:0.1468:0.7745:0.0	9.037	0.35458	854	0.34840	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1220.98	34	chr1	216292337	.	G	A	1220.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.030e-01;DP=797;ExcessHet=0.0000;FS=3.884;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=1.64;SOR=1.109	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr1	218331058	218331058	C	-	exonic	RRP15	.	frameshift deletion	RRP15:NM_016052:exon5:c.816delC:p.S272Rfs*15,	.	.	437	1042	40	3	0	46	0.0215962	.	.	718646	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0026	0.00259585	0.0048	0.0004	0.0013	0.0001	0.0003	0.0049	0.0099	0.0135	0.0021899	57	26028	rs541335404	0.0046	0.0046	0.0042	0.0050	0.0153	0.0045	0.0045	0.0147	0.0144	0.0006	0.0017	0.0104	0	0.0006	0.0118	0.0042	0.0053	0.0153	0.0032	0.0032	0.0032	0.0031	0.0112	0.0029	0.0028	0.0088	0.0080	0.0007	0	0.0024	0.0138	0	0.0004	0.0306	0.0043	0.0052	0.0112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	898.94	73	chr1	218331057	.	GC	G	898.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.510e-01;DP=772;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.31;ReadPosRankSum=1.15;SOR=0.788	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1096	20	0	1	0
chr1	219193204	219193204	T	C	exonic	LYPLAL1	.	nonsynonymous SNV	LYPLAL1:NM_001300770:exon3:c.T266C:p.I89T	.	.	439	1080	3	0	0	3	0.00138696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.994	D	0.997	D	0.000	D	1.000	D	3.21	M	1.38	T	-0.282	T	0.302	T	0.95	4.201	21.8	5.53	2.222	6.372	15.944	0.575	0.0337252076411	0.0012	0.000199681	0.0017	0.0004	8.872e-05	0	0.0003	0.0026	0	0.0014	0.00152	235	154602	rs145589411	0.0013	0.0013	0.0013	0.0013	0.0016	0.0012	0.0012	0.0014	0.0013	0.0002	0.0005	0.0208	2.528e-05	0.0002	0.0005	0.0009	0.0021	0.0016	0.0013	0.0013	0.0013	0.0014	0.0024	0.0012	0.0011	0.0018	0.0016	0.0003	0	0.0024	0.0162	0.0002	0.0002	0	0.0012	0.0014	0.0019	0.001	0.78490	D	0.002	0.79402	D	0.994	0.66517	D	0.997	0.86255	D	0.000005	0.62929	D	0.106914	0.999967	0.52935	D	3.285	0.90273	M	1.38	0.34050	T	-4.57	0.78721	D	0.938	0.94432	-0.2824	0.75475	T	0.302	0.67288	T	10	0.04086089	0.02690	T	0.033725	0.55185	D	0.575	0.82799	.	.	0.571728244252	0.56839	0.7986868795339926	0.79821	0.00941755990224	0.00855	0.572254776955	0.48997	T	0.050203	0.28529	T	-0.0244457	0.48217	T	0.16203	0.80931	D	0.094596633261819	0.11751	T	0.891311	0.62583	D	0.9456722	0.95825	0.8649636	0.92519	0.9456722	0.95825	0.8649636	0.92519	-12.298	0.86969	D	.	.	0.353	0.57963	A	.;.	.;.	4.648673	0.74080	26.1	0.99855075562634055	0.93368	0.94846	0.62532	D	AEFGBI	0.829964	0.74877	D	0.819833960373444	0.87329	9.180681	0.743943629849547	0.85703	8.660618	0.99999994410915	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.53	5.53	0.82530	6.114000	0.71248	7.821000	0.69751	0.607000	0.46521	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	15.944	0.79564	894	0.26265	Phospholipase/carboxylesterase/thioesterase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1795.98	41	chr1	219193204	.	T	C	1795.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=955;ExcessHet=0.0000;FS=1.271;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.66;ReadPosRankSum=-1.286e+00;SOR=0.576	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr1	219610162	219610162	A	G	exonic	ZC3H11B	.	nonsynonymous SNV	ZC3H11B:NM_001355457:exon2:c.T1901C:p.V634A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	203.02	29	chr1	219610162	.	A	G	203.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.35;DP=657;ExcessHet=0.0000;FS=12.355;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.024;MQ=30.62;MQRankSum=-2.035e+00;QD=4.61;ReadPosRankSum=-6.910e-01;SOR=0.010	GT:AD:DP:GQ:PL	0/0:34,0:34:78:0,78,1170	20	0	1	0
chr1	220074013	220074013	G	A	exonic	BPNT1	.	nonsynonymous SNV	BPNT1:NM_001286149:exon2:c.C14T:p.S5F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.954	D	0.000	D	1.000	D	1.975	M	0.6	T	-0.423	T	0.324	T	0.434	5.220	33	5.46	2.579	8.461	18.965	0.232	0.0154197554854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.78490	D	0.011	0.66756	D	0.976	0.73220	D	0.656	0.69447	P	0.000211	0.47681	D	0.219548	0.999952	0.52396	D	1.88	0.49984	L	0.6	0.53731	T	-2.97	0.67477	D	0.277	0.45142	-0.4230	0.71293	T	0.324	0.69229	T	10	0.43486527	0.57728	T	0.01542	0.36141	T	0.232	0.53354	0.559	0.67821	0.389750110748	0.38591	0.5169334974436691	0.51616	1.08208159744	0.77162	0.426841616631	0.28777	T	0.301469	0.74289	T	0.0152297	0.53736	T	-0.2159	0.53131	T	0.982898235321045	0.74768	D	0.950605	0.94694	D	0.48621652	0.66276	0.29615304	0.55647	0.48621652	0.66276	0.29615304	0.55646	-6.095	0.52752	T	.	.	0.301	0.53557	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.250497	0.88155	29.5	0.99866309272931864	0.94457	0.98053	0.79201	D	AEFBI	0.917709	0.88573	D	0.72359014131207	0.81179	7.461924	0.748747437073254	0.86064	8.771071	0.99999998547948	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.46	5.46	0.80021	9.014000	0.93156	11.727000	0.94923	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.965	0.92670	824	0.40336	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2188	396.55	55	chr1	220074013	.	G	A	396.55	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-3.491e+00;DP=1720;ExcessHet=2.5830;FS=279.111;InbreedingCoeff=-0.3038;MLEAC=9;MLEAF=0.281;MQ=60.00;MQRankSum=0.00;QD=0.59;ReadPosRankSum=0.665;SOR=11.761	GT:AD:DP:GQ:PL	./.:30,0:30:0:0,0,612	9	0	7	5
chr1	220141933	220141933	A	C	exonic	IARS2	.	nonsynonymous SNV	IARS2:NM_018060:exon20:c.A2545C:p.I849L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.042	N	1.000	N	-0.785	N	3.16	T	-0.967	T	0.006	T	0.147	0.240	5.294	-5.46	-0.759	0.129	9.481	0.049	0.00204330059489	.	.	8.26e-06	0	0	0	0	0	0	6.137e-05	6.5e-06	1	154602	rs765929786	5.474e-06	5.472e-06	6.808e-06	4.127e-06	0.0002	2.36e-06	1.7e-06	6.512e-05	4.45e-05	0	0	0	0.0002	0	0	0	1.656e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.781	0.04316	T	0.0	0.02946	B	0.001	0.04355	B	0.042166	0.23870	N	0.478782	0.999949	0.19238	N	-0.645	0.02107	N	.	.	.	.	.	.	0.271	0.30687	-0.9674	0.37733	T	0.006	0.01907	T	10	0.061078817	0.07602	T	0.002043	0.03721	T	0.049	0.13647	0.456	0.52102	0.20549828249	0.20151	0.3065101904415635	0.30564	.	.	0.351102918386	0.18084	T	0.019057	0.15254	T	-0.291561	0.09481	T	-0.555954	0.16759	T	0.0237581866797563	0.01115	T	0.640436	0.25296	T	0.04186439	0.06245	0.035385817	0.02781	0.04186439	0.06244	0.035385817	0.02780	-0.199	0.00427	T	.	.	0.057	0.00593	B	.	.	0.971672	0.13488	9.999	0.73890660491576021	0.10493	0.45275	0.27502	N	AEFBI	0.201397	0.32806	N	-1.27092078131851	0.04030	0.1811457	-1.19485991781488	0.05995	0.2872592	0.0799341164611478	0.15831	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.43	-5.46	0.02404	0.129000	0.15656	0.149000	0.15269	0.756000	0.94297	0.943000	0.32764	0.026000	0.21063	0.773000	0.36634	0.4972:0.3719:0.1309:0.0	9.481	0.38067	545	0.72614	Methionyl/Valyl/Leucyl/Isoleucyl-tRNA synthetase, anticodon-binding|Isoleucyl tRNA synthetase type 1, anticodon-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	917.98	34	chr1	220141933	.	A	C	917.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=805;ExcessHet=0.0000;FS=0.820;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.20;ReadPosRankSum=-6.930e-01;SOR=0.843	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1283	20	0	1	0
chr1	220154029	220154029	G	C	exonic	RAB3GAP2	.	nonsynonymous SNV	RAB3GAP2:NM_012414:exon32:c.C3584G:p.T1195S,	Martsolf syndrome, Autosomal recessive;Warburg micro syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.918	P	0.243	B	0.000	D	0.990	D	0.83	L	1.55	T	-1.120	T	0.056	T	0.262	3.544	18.08	5.73	2.861	6.815	20.260	0.141	0.00874835817134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	5.199e-05	1.363e-06	0	9.003e-07	0	0	.	.	0	0	0	0	0	0	9.003e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.21066	T	0.709	0.05544	T	0.918	0.50838	P	0.243	0.38752	B	0.000001	0.62929	D	0.097802	0.989506	0.40966	D	1.965	0.53209	M	1.55	0.29866	T	-1.19	0.30346	N	0.147	0.14905	-1.1200	0.02331	T	0.056	0.23715	T	10	0.2658563	0.44086	T	0.008748	0.23099	T	0.141	0.37795	0.358	0.36060	0.223474106383	0.21959	0.16981700195601018	0.16901	0.592570687533	0.54640	0.739543437958	0.72906	T	0.027942	0.20352	T	-0.137119	0.30348	T	-0.434738	0.29399	T	0.899769723415375	0.55214	D	0.762924	0.38892	T	0.1383725	0.32004	0.21677402	0.46317	0.1383725	0.32004	0.21677402	0.46316	-2.787	0.08064	T	0.07926114128440298	0.03886	0.096	0.15475	B	.	.	3.368266	0.46533	22.3	0.99285218365232031	0.58043	0.98279	0.81205	D	AEFBI	0.720452	0.67101	D	0.402651685043986	0.61569	4.359683	0.526830799331264	0.69803	5.412558	0.999690459879266	0.41870	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.73	5.73	0.89730	6.424000	0.73282	11.862000	0.98348	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.260	0.98443	533	0.73433	Rab3GAP regulatory subunit, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2619	372.12	113	chr1	220154029	.	G	C	372.12	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-2.626e+00;DP=1942;ExcessHet=7.7275;FS=214.208;InbreedingCoeff=-0.3437;MLEAC=10;MLEAF=0.238;MQ=60.00;MQRankSum=0.00;QD=0.39;ReadPosRankSum=-8.540e-01;SOR=12.523	GT:AD:DP:GQ:PL	0/1:57,26:90:68:68,0,876	10	0	11	0
chr1	221739728	221739728	A	G	exonic	DUSP10	.	nonsynonymous SNV	DUSP10:NM_007207:exon2:c.T17C:p.L6S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.986	D	0.842	N	1.000	D	0.805	L	3.6	T	-1.111	T	0.037	T	0.879	4.227	22.0	5.61	2.147	8.962	15.801	0.360	0.0391790014194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.917e-07	1.368e-06	0	1.395e-06	9.076e-07	0	0	.	.	0	0	0	0	0	0	9.076e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.986	0.76916	D	0.841643	0.07003	N	1.077800	1	0.81001	D	0.975	0.24501	L	3.6	0.04494	T	-0.59	0.17624	N	0.899	0.89912	-1.1115	0.02944	T	0.037	0.16160	T	10	0.7444325	0.75186	D	0.039179	0.58658	D	0.360	0.68052	0.11	0.02049	0.550885202691	0.54745	0.8136111555073962	0.81317	1.28636609278	0.82672	0.773925364017	0.78013	T	0.183662	0.53607	T	0.183493	0.72364	D	0.025799	0.72006	D	0.92934376001358	0.59335	D	0.805419	0.45334	T	0.2390642	0.46793	0.32787758	0.58681	0.2390642	0.46793	0.32787758	0.58681	-2.867	0.08818	T	.	.	0.643	0.70658	P	.	.	4.921596	0.81058	27.5	0.99854874203353206	0.93368	0.95059	0.63288	D	AEFDBHCI	0.897757	0.84029	D	0.687929479768234	0.78842	6.953603	0.725470477654434	0.84313	8.257233	0.999999999999695	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.687403	0.62504	0	0.616125	0.45549	0	.	.	5.61	5.61	0.85347	8.947000	0.92735	11.299000	0.92274	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.801	0.78227	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1791.98	37	chr1	221739728	.	A	G	1791.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.500e-01;DP=935;ExcessHet=0.0000;FS=0.640;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=-1.081e+00;SOR=0.613	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr1	222532076	222532076	T	G	exonic	HHIPL2	.	nonsynonymous SNV	HHIPL2:NM_024746:exon6:c.A1613C:p.K538T,	.	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.076	B	0.102	B	0.010	N	0.996	N	0.69	N	2.51	T	-1.005	T	0.016	T	0.136	2.140	13.11	1.43	-0.013	1.050	8.147	0.023	0.00576471121878	0.0038	0.00159744	0.0034	0.0005	0.0028	0	0	0.0044	0.0044	0.0044	0.0036545	565	154602	rs61748612	0.0050	0.0050	0.0049	0.0050	0.0057	0.0049	0.0049	0.0055	0.0055	0.0007	0.0033	0.0062	2.519e-05	9.366e-05	0.0024	0.0057	0.0048	0.0042	0.0032	0.0032	0.0035	0.0029	0.0050	0.0030	0.0029	0.0045	0.0044	0.0011	0.0033	0.0041	0.0049	0.0002	0	0.0034	0.0050	0.0043	0.0023	0.036	0.43393	D	0.142	0.33330	T	0.076	0.24253	B	0.102	0.30857	B	0.010127	0.30054	N	0.343348	0.995905	0.23169	N	0.575	0.15311	N	2.51	0.14284	T	-0.95	0.25332	N	0.213	0.23758	-1.0051	0.28427	T	0.016	0.06711	T	10	0.0035643876	0.00064	T	0.005765	0.14952	T	0.023	0.04649	.	.	0.107399877778	0.10242	0.5504523881218438	0.54971	0.270996954512	0.29621	0.36912342906	0.20706	T	0.001448	0.00900	T	-0.628995	0.00097	T	-0.670311	0.07589	T	0.00483448423878433	0.00052	T	0.771723	0.40231	T	0.0796609	0.18211	0.063856006	0.12712	0.0796609	0.18211	0.063856006	0.12712	-9.015	0.67794	D	.	.	0.127	0.26855	B	.	.	2.409530	0.30968	18.60	0.9897614934532073	0.49640	0.30019	0.23974	N	AEFBI	0.247364	0.36796	N	-0.763487275450783	0.14269	0.7094367	-0.680934163632822	0.17437	0.9272225	3.59747157183206E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.0	1.43	0.21585	1.094000	0.30563	1.901000	0.29582	-0.201000	0.08892	0.001000	0.13787	1.000000	0.68203	0.994000	0.71098	0.0:0.3111:0.0:0.6889	8.147	0.30278	913	0.21160	Glucose/Sorbosone dehydrogenase	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	314.98	37	chr1	222532076	.	T	G	314.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.696e+00;DP=710;ExcessHet=0.0000;FS=5.480;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.00;ReadPosRankSum=0.051;SOR=0.187	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1209	20	0	1	0
chr1	222540160	222540160	G	A	exonic	HHIPL2	.	nonsynonymous SNV	HHIPL2:NM_024746:exon4:c.C1300T:p.R434C,	.	.	431	1079	12	0	0	12	0.00552995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.96	D	0.773	P	0.833	N	1.000	N	1.15	L	2.47	T	-1.040	T	0.066	T	0.224	1.754	11.82	5.52	2.571	1.185	10.842	0.116	0.00931844103839	0.0005	0.000998403	0.0017	9.61e-05	0.0007	0	0.0002	0.0005	0.0033	0.0097	0.0015136	234	154602	rs141478102	0.0013	0.0013	0.0010	0.0016	0.0095	0.0012	0.0012	0.0090	0.0088	5.974e-05	0.0008	0	7.557e-05	1.872e-05	0.0055	0.0008	0.0013	0.0095	0.0008	0.0008	0.0007	0.0010	0.0087	0.0007	0.0007	0.0066	0.0059	0.0001	0	0.0007	0	0	0	0	0.0010	0	0.0087	0.011	0.55530	D	0.011	0.64786	D	0.96	0.55278	D	0.773	0.56974	P	0.833189	0.09090	N	0.933550	1	0.08975	N	1.525	0.38595	L	2.47	0.14783	T	-3.19	0.64593	D	0.328	0.36884	-1.0397	0.17404	T	0.066	0.27295	T	10	0.0043555796	0.00088	T	0.009318	0.24459	T	0.116	0.32463	.	.	0.204665344411	0.20097	0.6969119667067064	0.69632	0.686539504829	0.60334	0.328037202358	0.14637	T	0.019094	0.15273	T	-0.567534	0.00229	T	-0.580893	0.14465	T	0.077513641420242	0.09666	T	0.957304	0.83911	D	0.09461298	0.22249	0.12050495	0.29081	0.09461298	0.22249	0.12050495	0.29081	-9.645	0.71759	D	.	.	0.114	0.22644	B	.	.	3.479263	0.48577	22.6	0.99861965813836606	0.94002	0.09185	0.14991	N	AEFDBI	0.255313	0.37446	N	-0.0358219529827068	0.40238	2.386212	-0.152604182889507	0.33309	1.903965	0.170114556087587	0.17722	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.52	5.52	0.82153	0.972000	0.29007	2.712000	0.34244	0.618000	0.50648	0.001000	0.13787	0.141000	0.23092	0.042000	0.14466	0.0:0.1398:0.7157:0.1445	10.842	0.45925	901	0.24189	Glucose/Sorbosone dehydrogenase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1449.98	69	chr1	222540160	.	G	A	1449.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.871e+00;DP=1099;ExcessHet=0.0000;FS=2.285;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=2.39;SOR=0.475	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1344	20	0	1	0
chr1	222558709	222558709	C	T	exonic	TAF1A	.	nonsynonymous SNV	TAF1A:NM_139352:exon10:c.G962A:p.R321Q	.	.	649	866	6	1	0	8	0.0045977	.	.	707108	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.48	T	0.012	B	0.005	B	0.720	N	0.947	D	0.68	N	0.95	T	-1.023	T	0.039	T	0.087	1.445	10.77	-3.51	-0.257	-1.046	7.069	0.021	.	0.0057	0.00399361	0.0063	0.0012	0.0050	0.0001	0.0002	0.0088	0.0033	0.0057	0.0063195	977	154602	rs143557200	0.0078	0.0080	0.0077	0.0079	0.0090	0.0077	0.0077	0.0088	0.0087	0.0012	0.0051	0.0097	5.135e-05	0.0003	0.0052	0.0090	0.0075	0.0050	0.0055	0.0055	0.0059	0.0050	0.0083	0.0052	0.0050	0.0077	0.0075	0.0020	0.0186	0.0072	0.0069	0.0002	0	0	0.0083	0.0081	0.0031	0.264	0.16358	T	0.447	0.13066	T	0.012	0.16265	B	0.005	0.11217	B	0.720352	0.09940	N	0.878450	0.996506	0.22994	N	0.465	0.13073	N	0.95	0.43279	T	-0.21	0.10308	N	0.085	0.06190	-1.0230	0.22736	T	0.039	0.16806	T	10	0.0024210513	0.00036	T	.	.	.	0.021	0.04004	.	.	0.146414634003	0.14194	0.0830712315295656	0.08242	0.29759780945	0.32142	0.214307755232	0.01007	T	0.003568	0.02980	T	-0.645776	0.00077	T	-0.690001	0.06389	T	0.00483677018932029	0.00052	T	0.682032	0.30590	T	0.030386215	0.02693	0.035775885	0.02892	0.030386215	0.02692	0.035775885	0.02892	-3.785	0.20581	T	.	.	0.078	0.08176	B	.;.;.	.;.;.	0.897230	0.12713	9.231	0.90112850717263859	0.19394	0.01409	0.04766	N	AEFBI	0.025925	0.01857	N	-1.09384815874175	0.06755	0.3119081	-1.04005502980822	0.08915	0.4407615	0.00803835386100511	0.11597	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.34	-3.51	0.04397	-1.059000	0.03589	-2.012000	0.04347	-0.313000	0.06017	0.039000	0.20931	0.000000	0.08366	0.984000	0.60418	0.0:0.2261:0.1415:0.6324	7.069	0.24346	922	0.19044	.;.;.	TAF1A|TAF1A|TAF1A|RP11-378J18.8	Colon_Sigmoid|Pancreas|Thyroid|Thyroid	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	679.98	41	chr1	222558709	.	C	T	679.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.460e-01;DP=776;ExcessHet=0.0000;FS=1.814;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.09;ReadPosRankSum=0.087;SOR=0.488	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1080	20	0	1	0
chr1	222628373	222628373	G	A	exonic	MIA3	.	nonsynonymous SNV	MIA3:NM_001324062:exon4:c.G1153A:p.D385N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.985	D	.	.	1.000	N	2.045	M	2.53	T	-0.571	T	0.293	T	0.042	5.409	34	5.06	2.499	5.701	17.745	0.206	0.0327850061945	.	0.000599042	0.0007	0	0	0	0	0	0.0011	0.0050	0.0005563	86	154602	rs564848897	0.0003	0.0003	0.0002	0.0005	0.0049	0.0003	0.0003	0.0045	0.0043	0	0	0	2.52e-05	0	0.0002	2.698e-06	0.0004	0.0049	0.0001	0.0001	6.424e-05	0.0002	0.0044	9.142e-05	7.699e-05	0.0029	0.0024	0	0	0	0	0	0	0	0	0	0.0044	0.008	0.58626	D	0.353	0.70582	T	0.997	0.70673	D	0.921	0.65636	D	.	.	.	.	0.892925	0.35993	D	.	.	.	2.53	0.48769	T	-2.12	0.57275	N	0.243	0.52386	-0.5713	0.65963	T	0.293	0.66460	T	9	0.0072318614	0.00165	T	0.032785	0.54518	D	0.206	0.49396	0.344	0.33788	0.514072065251	0.51050	0.0495651754555107	0.04899	0.351519266258	0.36992	0.327500760555	0.14557	T	0.01311	0.11397	T	-0.555503	0.00270	T	-0.570314	0.15420	T	0.0733242928020612	0.09110	T	0.812519	0.47330	T	0.14263871	0.32817	0.17161663	0.39356	0.14263871	0.32817	0.17161663	0.39356	-4.372	0.29174	T	.	.	0.141	0.30817	B	.;.	.;.	4.028209	0.59550	24.1	0.99912468621328032	0.98167	0.99041	0.90363	D	AEFBI	0.502646	0.53497	D	0.442057289607951	0.63752	4.615298	0.348523991174695	0.58418	4.012244	0.999999997284595	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	4.753000	0.61880	5.641000	0.49149	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.0:1.0:0.0	17.745	0.88328	909	0.22467	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1415.98	85	chr1	222628373	.	G	A	1415.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.81;DP=905;ExcessHet=0.0000;FS=0.765;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.06;ReadPosRankSum=1.29;SOR=0.606	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1201	20	0	1	0
chr1	222629480	222629480	T	A	exonic	MIA3	.	nonsynonymous SNV	MIA3:NM_001324062:exon4:c.T2260A:p.F754I	.	.	0	224	2	0	0	2	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.029	B	0.023	B	.	.	1.000	N	1.1	L	3.76	T	-1.006	T	0.089	T	0.173	1.832	12.09	0.699	0.012	-0.335	8.758	0.012	0.0143155709012	0.0009	0.000199681	0.0012	0.0002	0.0006	0	0.0012	0.0016	0	0.0013	0.0011772	182	154602	rs200192078	0.0013	0.0013	0.0013	0.0013	0.0014	0.0013	0.0012	0.0013	0.0013	0	0.0010	0.0014	0	0.0021	0.0007	0.0014	0.0010	0.0012	0.0011	0.0011	0.0012	0.0010	0.0016	0.0010	0.0009	0.0013	0.0012	0.0002	0.0143	0.0012	0.0006	0	0.0012	0	0.0016	0.0019	0.0006	0.188	0.21304	T	0.174	0.30045	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	3.76	0.03892	T	0.07	0.06138	N	0.108	0.09349	-1.0064	0.28034	T	0.089	0.34325	T	9	0.0058579743	0.00131	T	0.014316	0.34357	T	0.017	0.02790	.	.	0.258283824007	0.25425	0.04700691661222747	0.04643	0.0857344890046	0.09686	0.254468142986	0.04253	T	0.001656	0.01084	T	-0.606267	0.00133	T	-0.649804	0.08967	T	0.00323488204520858	0.00034	T	0.476552	0.14308	T	0.09427926	0.22162	0.055218413	0.09643	0.09427926	0.22162	0.055218413	0.09643	-2.714	0.07421	T	.	.	0.067	0.02399	B	.	.	0.120358	0.05179	1.696	0.93429112851722329	0.23200	0.23573	0.22119	N	AEFBCI	0.058007	0.10850	N	-0.687604010051407	0.16374	0.833661	-0.820291829971597	0.14004	0.7294964	0.0387698152443059	0.14363	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.37	0.699	0.17252	-0.332000	0.07948	-2.303000	0.03926	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.188000	0.21541	0.0:0.4054:0.0:0.5946	8.758	0.33818	910	0.22284	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1569.98	94	chr1	222629480	.	T	A	1569.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.200e-02;DP=1963;ExcessHet=0.0000;FS=0.646;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-1.985e+00;SOR=0.584	GT:AD:DP:GQ:PL	0/0:72,0:72:99:0,120,1800	20	0	1	0
chr1	222629720	222629720	A	G	exonic	MIA3	.	nonsynonymous SNV	MIA3:NM_001324062:exon4:c.A2500G:p.I834V	.	.	419	1088	15	0	0	15	0.00684619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.027	B	0.022	B	.	.	1.000	N	1.1	L	3.66	T	-0.905	T	0.007	T	0.079	-0.298	2.580	-1.89	-0.156	-1.253	4.205	0.010	.	0.0053	0.00339457	0.0063	0.0016	0.0047	0	0.0067	0.0088	0.0101	0.0032	0.0061383	949	154602	rs79054337	0.0075	0.0075	0.0076	0.0074	0.0086	0.0074	0.0073	0.0084	0.0084	0.0013	0.0045	0.0007	0	0.0078	0.0036	0.0086	0.0072	0.0036	0.0055	0.0055	0.0055	0.0055	0.0084	0.0052	0.0051	0.0079	0.0076	0.0015	0.0044	0.0048	0	0	0.0079	0.0068	0.0084	0.0076	0.0048	0.071	0.35165	T	0.636	0.07059	T	0.017	0.17573	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	.	.	.	3.66	0.04228	T	0.14	0.05405	N	0.06	0.03175	-0.9047	0.47481	T	0.007	0.02360	T	9	0.0034705698	0.00061	T	.	.	.	0.010	0.01040	.	.	0.126345400529	0.12197	0.02975397248211301	0.02924	0.0474528487497	0.05180	0.231261909008	0.02063	T	2.94E-4	0.00073	T	-0.674629	0.00052	T	-0.735578	0.04079	T	0.00121981089687263	0.00012	T	0.264874	0.04312	T	0.018474111	0.00368	0.0287193	0.01134	0.018474111	0.00368	0.0287193	0.01134	-2.737	0.07619	T	.	.	0.071	0.03887	B	.	.	-1.077967	0.00667	0.019	0.19956957880846973	0.00697	0.02504	0.06993	N	AEFBCI	0.020073	0.00756	N	-1.18086869438657	0.05290	0.2407763	-1.24845453336349	0.05154	0.2448985	0.988158556269713	0.31431	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.23	-1.89	0.07271	-0.116000	0.10697	-0.546000	0.08555	-0.056000	0.16711	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.3763:0.3183:0.3054:0.0	4.205	0.09939	910	0.22284	.	.	.	.	.	rs79054337	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1584.98	90	chr1	222629720	.	A	G	1584.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.348e+00;DP=1164;ExcessHet=0.0000;FS=3.195;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.48;ReadPosRankSum=0.765;SOR=0.690	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr1	222746592	222746592	C	G	exonic	FAM177B	.	nonsynonymous SNV	FAM177B:NM_001324080:exon2:c.C47G:p.P16R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.358	B	0.11	B	0.148	N	1.000	N	1.155	L	1.53	T	-1.030	T	0.080	T	0.229	-1.415	0.022	2.76	0.934	0.509	5.088	0.073	0.00824275709649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.799e-06	4.789e-06	4.094e-06	5.511e-06	6.311e-06	2e-06	1.28e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.311e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.512	0.09989	T	0.246	0.24123	T	0.358	0.33818	B	0.11	0.31460	B	0.148296	0.02941	N	1.912360	1	0.08975	N	0.895	0.22405	L	0.98	0.42502	T	-2.18	0.49187	N	0.063	0.03502	-1.0299	0.20487	T	0.080	0.31735	T	10	0.09022528	0.15700	T	0.008243	0.21827	T	0.073	0.21317	0.252	0.19067	0.0846915920261	0.08053	0.03377660181712105	0.03325	0.445951067236	0.44474	0.280969798565	0.07627	T	0.024883	0.18717	T	-0.235179	0.15970	T	-0.575595	0.14941	T	0.207843214273453	0.20840	T	0.476552	0.14308	T	0.104536965	0.24713	0.14776337	0.34956	0.104536965	0.24713	0.14776337	0.34955	-4.338	0.28706	T	.	.	0.092	0.16099	B	.;.;.;.	.;.;.;.	1.028298	0.14083	10.65	0.087233806802862981	0.00074	0.04596	0.10250	N	AEFBI	0.041856	0.06420	N	-0.69570000420952	0.16143	0.819914	-0.721455249629235	0.16428	0.8689494	4.05454634408433E-5	0.03775	0.553676	0.25195	0	0.547309	0.14657	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	4.67	2.76	0.31527	0.276000	0.18478	0.545000	0.19369	0.539000	0.25131	0.000000	0.06391	0.003000	0.18671	0.676000	0.33425	0.2071:0.6859:0.0:0.107	5.088	0.14029	809	0.43032	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2444.98	38	chr1	222746592	.	C	G	2444.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.501;DP=970;ExcessHet=0.0000;FS=4.793;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.81;ReadPosRankSum=1.12;SOR=0.751	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr1	223112787	223112787	G	A	exonic	TLR5	.	nonsynonymous SNV	TLR5:NM_003268:exon6:c.C245T:p.T82I,	.	.	415	1051	54	2	0	58	0.0268519	.	.	707119	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.15	T	0.008	B	0.029	B	0.172	N	1.000	N	1.39	L	0.81	T	-1.034	T	0.071	T	0.121	-0.091	3.553	3.1	1.227	1.272	6.566	0.020	.	0.0045	0.00359425	0.0059	0.0018	0.0016	0	0.0008	0.0065	0.0066	0.0139	0.0058602	906	154602	rs764535	0.0065	0.0065	0.0061	0.0069	0.0147	0.0064	0.0063	0.0135	0.0132	0.0011	0.0021	0.0166	7.558e-05	0.0011	0.0147	0.0064	0.0071	0.0141	0.0042	0.0042	0.0042	0.0042	0.0122	0.0040	0.0039	0.0097	0.0088	0.0012	0	0.0030	0.0115	0	0.0005	0.0170	0.0063	0.0052	0.0122	0.115	0.28520	T	0.268	0.22494	T	.	.	.	.	.	.	0.172334	0.17338	N	0.611782	1	0.08975	N	.	.	.	0.81	0.48460	T	-0.54	0.16598	N	0.127	0.14196	-1.0339	0.19205	T	0.071	0.29034	T	10	0.0050294697	0.00108	T	.	.	.	0.020	0.03691	.	.	0.477143196806	0.47344	0.2498123214568168	0.24895	0.0606423343085	0.06746	0.341168403625	0.16612	T	.	.	.	-0.581305	0.00189	T	-0.596104	0.13141	T	0.00138614168513963	0.00014	T	0.659534	0.27772	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.31253	B	.;.;.;.	.;.;.;.	1.290308	0.16911	12.84	0.90655103548364624	0.19907	0.06472	0.12481	N	AEFDBI	0.098121	0.19778	N	-0.849757684353521	0.12055	0.5853579	-0.859095531632201	0.13070	0.6759493	0.0619976288686071	0.15249	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.03	3.1	0.34780	1.533000	0.35645	3.780000	0.39787	-0.148000	0.12190	0.005000	0.17040	1.000000	0.68203	0.032000	0.13371	0.1456:0.0:0.6783:0.1761	6.566	0.21709	756	0.51065	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1275.98	45	chr1	223112787	.	G	A	1275.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.091e+00;DP=987;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.29;ReadPosRankSum=0.638;SOR=0.692	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	20	0	1	0
chr1	223223463	223223463	G	C	exonic	SUSD4	.	nonsynonymous SNV	SUSD4:NM_017982:exon8:c.C1230G:p.S410R,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.651	P	0.198	B	0.000	D	1.000	D	1.245	L	1.58	T	-1.120	T	0.055	T	0.221	2.461	14.19	3.3	0.583	1.230	10.063	0.018	0.0206905089061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.13	0.35082	T	0.651	0.40707	P	0.198	0.36766	B	0.000012	0.62929	D	0.000000	0.983044	0.41010	D	0.805	0.20218	L	1.51	0.30937	T	-1.04	0.27259	N	0.516	0.55972	-1.1197	0.02350	T	0.055	0.23338	T	10	0.16372544	0.30650	T	0.020691	0.43334	T	0.086	0.25016	0.166	0.07071	0.110078149338	0.10416	0.2737167716299504	0.27284	0.568687442677	0.53073	0.533136487007	0.43476	T	0.019105	0.15279	T	-0.218107	0.18252	T	-0.551072	0.17223	T	0.732620179653168	0.42346	D	0.90461	0.66442	D	0.12577257	0.29475	0.14443545	0.34291	0.12577257	0.29475	0.14443545	0.34290	-4.063	0.24743	T	.	.	0.503	0.67635	A	.;.;.;.	.;.;.;.	2.562012	0.33183	19.26	0.99179532501413148	0.54643	0.95857	0.66452	D	AEFDBI	0.553023	0.56444	D	-0.312150007320402	0.28685	1.584288	-0.22927319628837	0.30491	1.717321	0.00178567423163663	0.08881	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.16	3.3	0.36912	1.286000	0.32877	1.260000	0.25225	-0.724000	0.03774	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.2254:0.0:0.7746:0.0	10.063	0.41461	840	0.37365	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1012.98	84	chr1	223223463	.	G	C	1012.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.680e-01;DP=784;ExcessHet=0.0000;FS=2.923;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=-6.730e-01;SOR=0.411	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr1	223229359	223229359	C	T	exonic	SUSD4	.	nonsynonymous SNV	SUSD4:NM_017982:exon6:c.G754A:p.G252R,	.	.	.	.	.	.	.	.	.	.	.	3327644	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.986	D	0.000	D	1.000	D	2.25	M	0.45	T	-0.315	T	0.373	T	0.935	5.438	35	5.83	2.767	7.135	20.126	0.554	0.0602705948339	0.0002	.	3.371e-05	0	0	0	0	4.564e-05	0	6.17e-05	2.59e-05	4	154602	rs370135332	2.205e-05	2.326e-05	1.777e-05	2.64e-05	0.0008	1.596e-05	1.366e-05	0.0003	0.0002	6.004e-05	0	0	2.542e-05	0	0.0008	1.903e-05	1.67e-05	3.491e-05	1.972e-05	1.97e-05	1.285e-05	2.691e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0.0005	0	0.001	0.78490	D	0.005	0.72224	D	1.0	0.90584	D	0.986	0.76916	D	0.000288	0.46274	D	0.000000	1	0.81001	D	2.675	0.78361	M	0.45	0.56446	T	-6.33	0.90895	D	0.951	0.97961	-0.3154	0.74551	T	0.373	0.73190	T	10	0.88355136	0.87673	D	0.060271	0.67946	D	0.554	0.81601	0.88	0.96835	0.770159368578	0.76805	0.8837718769751967	0.88345	0.752528923847	0.63843	0.763409495354	0.76438	T	0.434068	0.78128	T	0.184588	0.72465	D	0.208899	0.83605	D	0.852344870567322	0.50369	D	0.941406	0.78138	D	0.76802844	0.81930	0.7899414	0.87642	0.76802844	0.81931	0.7899414	0.87643	-14.624	0.94908	D	.	.	0.983	0.91974	P	.;.;.;.	.;.;.;.	5.761694	0.93432	33	0.99938903973186144	0.99734	0.98862	0.87844	D	AEFDBI	0.922742	0.89816	D	0.874795033258555	0.90473	10.41919	0.864404719186989	0.93830	12.30942	0.999999999999988	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.83	5.83	0.93059	7.185000	0.77253	4.842000	0.45294	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.126	0.97980	851	0.35303	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2712.98	33	chr1	223229359	.	C	T	2712.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=916;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=0.377;SOR=0.672	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr1	223395006	223395006	G	C	exonic	CCDC185	.	nonsynonymous SNV	CCDC185:NM_152610:exon1:c.G1531C:p.D511H,	.	.	418	1099	5	0	0	5	0.00226963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.948	D	.	.	1.000	N	1.67	L	1.56	T	-1.010	T	0.141	T	0.322	1.749	11.81	3.62	0.690	3.761	9.655	0.090	.	0.0003	0.00219649	0.0011	0	8.655e-05	0	0	0.0008	0.0033	0.0048	0.0010349	160	154602	rs150515474	0.0007	0.0007	0.0005	0.0008	0.0048	0.0006	0.0006	0.0045	0.0043	2.987e-05	0.0003	0.0077	0	0	0.0024	0.0002	0.0013	0.0048	0.0005	0.0005	0.0005	0.0006	0.0064	0.0005	0.0004	0.0047	0.0041	0	0	0.0003	0.0046	0	0	0.0034	0.0004	0	0.0064	0.004	0.65419	D	0.017	0.60337	D	0.999	0.77913	D	0.948	0.68536	D	.	.	.	.	0.99961	0.20887	N	1.245	0.31408	L	1.56	0.29602	T	-3.0	0.62343	D	0.241	0.27197	-1.0100	0.26917	T	0.141	0.46183	T	9	0.0051342845	0.00111	T	.	.	.	0.090	0.26093	.	.	0.282179105231	0.27821	0.012092483072575582	0.01168	0.631166728374	0.57081	.	.	.	0.134834	0.46631	T	-0.47559	0.00785	T	-0.455936	0.27042	T	0.126171853596467	0.15024	T	0.609739	0.23084	T	0.18793468	0.40270	0.21598133	0.46208	0.18793468	0.40270	0.21598133	0.46207	-3.76	0.20208	T	.	.	0.406	0.59937	A	.	.	3.343312	0.46082	22.2	0.99154341483750907	0.53903	0.88046	0.47806	D	AEFDBI	0.218554	0.34354	N	0.193755788699777	0.50900	3.275662	0.0606099550251631	0.42587	2.578497	0.118676830479587	0.16828	0.487112	0.14033	0	0.573888	0.26702	0	0.563428	0.18855	0	0.542086	0.14980	0	.	.	5.48	3.62	0.40616	4.936000	0.63206	3.603000	0.39228	0.676000	0.76740	1.000000	0.71638	0.956000	0.29165	0.630000	0.32157	0.1683:0.0:0.8317:0.0	9.655	0.39083	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1966.98	38	chr1	223395006	.	G	C	1966.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.489;DP=870;ExcessHet=0.0000;FS=1.472;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.26;ReadPosRankSum=0.423;SOR=0.563	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr1	223625887	223625887	A	G	exonic	CAPN8	.	nonsynonymous SNV	CAPN8:NM_001143962:exon6:c.T731C:p.V244A,	.	.	426	1089	7	0	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.026	B	0.117	B	0.086	U	0.905	D	0.47	N	2.48	T	-1.039	T	0.030	T	0.172	2.811	15.36	5.41	2.042	5.318	15.115	0.081	.	.	0.00219649	0.0008	0	0	0	0	0	0	0.0021	0.000207	32	154602	rs540681424	0.0001	0.0001	6.912e-05	0.0002	0.0019	0.0001	9.752e-05	0.0016	0.0015	0	0	0	0	0	0.0002	2.783e-06	0.0002	0.0019	0.0001	0.0001	9e-05	0.0002	0.0046	9.745e-05	8.259e-05	0.0031	0.0026	0	0	0	0	0	0	0	0	0	0.0046	0.046	0.40573	D	0.268	0.22494	T	0.026	0.19406	B	0.117	0.32014	B	0.086060	0.20608	U	0.379938	0.905291	0.36272	D	0.92	0.23413	L	2.48	0.14657	T	-3.17	0.70314	D	0.139	0.13769	-1.0391	0.17587	T	0.030	0.12717	T	10	0.008921564	0.00202	T	.	.	.	0.101	0.28911	0.602	0.73346	0.356484672536	0.35262	0.392800566529341	0.39195	0.00202084466576	0.00170	0.430593192577	0.29289	T	0.360273	0.72654	T	-0.54119	0.00330	T	-0.556942	0.16665	T	0.149861987096167	0.17092	T	0.678632	0.30396	T	0.33183846	0.55621	0.39921564	0.64490	0.33183846	0.55621	0.39921564	0.64490	-7.157	0.55172	T	.	.	0.133	0.38227	B	.;.;.	.;.;.	3.692421	0.52622	23.3	0.98886328333658202	0.47912	0.98656	0.85210	D	AEFDBI	0.786576	0.71662	D	-0.104029718464215	0.37215	2.162095	0.0755534205834351	0.43324	2.63643	0.999999817538588	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.41	5.41	0.78313	5.305000	0.65541	3.125000	0.36417	0.756000	0.94297	1.000000	0.71638	0.971000	0.29754	0.691000	0.33868	1.0:0.0:0.0:0.0	15.115	0.72066	910	0.22284	Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1781.98	37	chr1	223625887	.	A	G	1781.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.463;DP=907;ExcessHet=0.0000;FS=7.221;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.92;ReadPosRankSum=2.10;SOR=0.302	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,99,1485	20	0	1	0
chr1	223665609	223665609	G	A	exonic	CAPN8	.	nonsynonymous SNV	CAPN8:NM_001143962:exon1:c.C38T:p.A13V,	.	.	423	1092	7	0	0	7	0.00319489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.666	P	0.186	B	0.499	U	1.000	N	2.15	M	2.45	T	-1.006	T	0.048	T	0.111	1.794	11.96	3.87	1.424	1.730	8.236	0.063	0.0112141031479	0.0002	.	0.0003	0.0005	0.0025	0	0	0.0001	0	0.0005	6.47e-05	10	154602	rs372891276	0.0002	0.0001	0.0001	0.0002	0.0018	0.0001	0.0001	0.0010	0.0007	0	5.602e-05	0	0	0	0.0018	0.0001	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	7.218e-05	0	6.532e-05	0	0	0	0.0068	0.0003	0.0014	0	0.915	0.11696	T	0.288	0.21144	T	0.666	0.41077	P	0.186	0.36104	B	0.499110	0.05081	U	1.477350	1	0.08975	N	2.6	0.76081	M	2.45	0.15028	T	-1.48	0.40082	N	0.096	0.09207	-1.0057	0.28247	T	0.048	0.20672	T	10	0.021810472	0.00530	T	0.011214	0.28600	T	0.063	0.18251	.	.	0.292423486923	0.28857	0.4798066508202455	0.47900	0.00246300865135	0.00212	0.375164568424	0.21570	T	0.117381	0.43742	T	-0.507719	0.00517	T	-0.650923	0.08890	T	0.0388365992808321	0.03480	T	0.651335	0.26216	T	0.03597037	0.04335	0.072497636	0.15646	0.03597037	0.04334	0.072497636	0.15646	-6.375	0.49314	T	.	.	0.109	0.23570	B	.;.;.	.;.;.	2.361856	0.30291	18.39	0.97883581956091992	0.36621	0.23668	0.22150	N	AEFGBHCI	0.149555	0.27367	N	-0.396177415221838	0.25604	1.391173	-0.475952552617177	0.22818	1.241271	0.999999481451581	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.75	3.87	0.43823	2.902000	0.48401	1.760000	0.28546	0.654000	0.53741	0.984000	0.35821	0.069000	0.22184	0.002000	0.04165	0.1392:0.0:0.7344:0.1264	8.236	0.30787	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1097.98	36	chr1	223665609	.	G	A	1097.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.200e-02;DP=792;ExcessHet=0.0000;FS=1.884;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.90;ReadPosRankSum=-3.780e-01;SOR=0.446	GT:AD:DP:GQ:PL	0/1:37,42:79:99:1112,0,899	20	0	1	0
chr1	224379079	224379079	T	C	exonic	CNIH4	.	nonsynonymous SNV	CNIH4:NM_001277200:exon5:c.T403C:p.C135R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	.	.	.	.	.	.	1.000	N	.	.	1.15	T	-1.019	T	0.044	T	0.1	-0.827	0.606	-3.59	-1.448	-0.863	4.456	0.022	0.00147417454252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.008	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.15	0.48769	T	0.44	0.04776	N	0.064	0.05670	-1.0187	0.24139	T	0.044	0.18865	T	6	0.043510914	0.03208	T	0.001474	0.02241	T	0.022	0.04323	0.137	0.04097	0.128392430309	0.12331	.	.	.	.	.	.	.	0.007095	0.06517	T	-0.269931	0.11765	T	-0.625513	0.10758	T	0.0292048071073364	0.01868	T	0.232077	0.03147	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.41156	B	.;.	.;.	0.039907	0.04565	1.248	0.28684686720502772	0.01485	0.06191	0.12176	N	AEFDGBHCI	0.050524	0.08839	N	-1.4747123625101	0.02030	0.08920189	-1.67947618018771	0.01231	0.05545411	0.999998632986991	0.74766	0.706298	0.61202	0	0.57239	0.20480	2	0.709663	0.75317	0	0.636168	0.56350	0	.	.	2.52	-3.59	0.04290	-0.883000	0.04278	-0.121000	0.11721	-0.175000	0.10903	0.000000	0.06391	0.000000	0.08366	0.054000	0.15518	0.0:0.2343:0.3162:0.4495	4.456	0.11063	656	0.62345	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1290.98	37	chr1	224379079	.	T	C	1290.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.159e+00;DP=861;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=0.580;SOR=0.723	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr1	224434204	224434204	-	GGAGGAGGA	exonic	WDR26	.	nonframeshift insertion	WDR26:NM_001379403:exon1:c.201_202insTCCTCCTCC:p.S67_V68insSSS,	.	.	.	.	.	.	.	.	.	.	.	2816080	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs144531645	0.0027	0.0024	0.0027	0.0027	0.0043	0.0026	0.0026	0.0038	0.0037	0.0008	0.0018	0.0046	0.0001	0.0012	0.0025	0.0028	0.0026	0.0043	0.0019	0.0019	0.0020	0.0018	0.0047	0.0017	0.0017	0.0032	0.0027	0.0008	0	0.0021	0.0041	0	0.0018	0	0.0025	0.0005	0.0047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	5424.84	16	chr1	224434204	.	C	CGGA,CGGAGGAGGA	5424.84	.	AC=12,1;AF=0.286,0.024;AN=42;BaseQRankSum=0.270;DP=500;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4485;MLEAC=12,1;MLEAF=0.286,0.024;MQ=60.00;MQRankSum=0.00;QD=18.97;ReadPosRankSum=-1.880e-01;SOR=0.714	GT:AD:DP:GQ:PL	0/1:7,6,0:13:99:231,0,276,252,294,546	8	0	12	0
chr1	225085608	225085608	A	-	exonic	DNAH14	.	frameshift deletion	DNAH14:NM_001367479:exon21:c.3392delA:p.M1133Cfs*16,	.	.	455	1039	27	1	0	29	0.0137636	.	.	2816092	not_provided|DNAH14-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0028	0.00319489	0.0060	0	0.0049	0	0.0018	0.0070	0.0083	0.0078	0.0003074	8	26028	rs555051718	0.0024	0.0023	0.0021	0.0027	0.0130	0.0023	0.0023	0.0106	0.0097	0.0003	0.0028	0.0133	0	0.0010	0.0130	0.0018	0.0035	0.0076	0.0023	0.0023	0.0023	0.0023	0.0079	0.0021	0.0020	0.0059	0.0052	0.0003	0	0.0048	0.0124	0	0.0013	0.0170	0.0022	0.0066	0.0079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2455.94	46	chr1	225085607	.	GA	G	2455.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.530;DP=1059;ExcessHet=0.0000;FS=2.653;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.11;ReadPosRankSum=-1.356e+00;SOR=0.524	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,117,1755	20	0	1	0
chr1	225085715	225085715	A	G	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon21:c.A3499G:p.I1167V,	.	.	441	1080	1	0	0	1	0.000462749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.002	B	0.006	B	0.236	N	1.000	N	1.12	L	2.52	T	-1.046	T	0.108	T	0.083	-0.177	3.137	-1.59	-0.486	-0.216	0.425	0.078	0.017309674527	.	0.000399361	0.0013	0.0005	0	0	0	0	0	0.0034	0.0002005	31	154602	rs535960241	0.0002	0.0002	0.0001	0.0003	0.0036	0.0002	0.0002	0.0032	0.0031	0	0	0	0	0	0	9.27e-07	0.0002	0.0036	0.0001	0.0001	0.0001	0.0001	0.0033	7.086e-05	5.743e-05	0.0021	0.0017	2.405e-05	0	0	0	0	0	0	0	0	0.0033	0.956	0.18626	T	0.28	0.28860	T	0.002	0.09854	B	0.006	0.12133	B	0.235586	0.15825	N	0.471075	1	0.08975	N	.	.	.	2.52	0.62762	T	-0.43	0.18042	N	0.073	0.11340	-1.0458	0.15592	T	0.108	0.39197	T	10	0.0030287504	0.00050	T	0.01731	0.38957	T	0.078	0.22779	0.525	0.62967	0.0297737177859	0.01360	.	.	.	.	0.373464286327	0.21328	T	0.005337	0.04790	T	-0.580325	0.00192	T	-0.607212	0.12212	T	0.0198448896704715	0.00686	T	0.355564	0.09261	T	0.023276893	0.01054	0.028390275	0.01071	0.023276893	0.01053	0.028390275	0.01071	-4.786	0.40678	T	.	.	0.117	0.23640	B	.;.;.	.;.;.	0.437977	0.08080	4.808	0.62272201674341998	0.06920	0.01515	0.05004	N	AEFBI	0.039281	0.05682	N	-1.0265389411727	0.08055	0.3763929	-1.0537925509038	0.08628	0.4251534	1.97345323872852E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.28	-1.59	0.08003	-0.229000	0.09106	-0.671000	0.07934	0.709000	0.85303	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.308:0.1223:0.2135:0.3561	0.425	0.00431	685	0.59416	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1880.98	46	chr1	225085715	.	A	G	1880.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.000e-03;DP=1021;ExcessHet=0.0000;FS=0.578;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=-5.900e-02;SOR=0.794	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,117,1755	20	0	1	0
chr1	225353859	225353862	AAAC	-	exonic	DNAH14	.	frameshift deletion	DNAH14:NM_001367479:exon73:c.11590_11593del:p.K3864Sfs*10,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.874e-06	4.655e-05	7.26e-06	4.456e-06	7.615e-06	2.53e-06	1.83e-06	3.28e-06	2.37e-06	0	0	0	0	0	0	7.615e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	315.94	36	chr1	225353858	.	GAAAC	G	315.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.585;DP=772;ExcessHet=0.0000;FS=75.851;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.00;ReadPosRankSum=0.564;SOR=6.090	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1132	20	0	1	0
chr1	225353859	225353859	-	GG	exonic	DNAH14	.	frameshift insertion	DNAH14:NM_001367479:exon73:c.11590_11591insGG:p.K3864Rfs*12,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	273.74	68	chr1	225353859	.	A	AGG,*	273.74	.	AC=1,1;AF=0.026,0.026;AN=38;BaseQRankSum=-2.776e+00;DP=974;ExcessHet=0.1128;FS=176.894;InbreedingCoeff=0.0918;MLEAC=1,1;MLEAF=0.026,0.026;MQ=60.00;MQRankSum=0.00;QD=1.74;ReadPosRankSum=2.02;SOR=7.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0:34:99:.:.:0,99,1132,99,1132,1132	17	0	1	2
chr1	225353859	225353859	A	0	exonic	DNAH14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	273.74	68	chr1	225353859	.	A	AGG,*	273.74	.	AC=1,1;AF=0.026,0.026;AN=38;BaseQRankSum=-2.776e+00;DP=974;ExcessHet=0.1128;FS=176.894;InbreedingCoeff=0.0918;MLEAC=1,1;MLEAF=0.026,0.026;MQ=60.00;MQRankSum=0.00;QD=1.74;ReadPosRankSum=2.02;SOR=7.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0:34:99:.:.:0,99,1132,99,1132,1132	17	0	1	2
chr1	225353860	225353860	A	G	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon73:c.A11591G:p.K3864R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.112	B	0.061	B	.	.	1.000	D	.	.	3.13	T	-0.960	T	0.017	T	0.139	2.173	13.22	4.96	1.975	1.458	12.415	0.042	0.0424221383888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0016	0.0003	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	6.329e-05	0	0.0004	0.0005	0	0.0003	0.0002	6.899e-05	0	2.638e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.304	0.14303	T	0.086	0.40909	T	0.112	0.26290	B	0.061	0.26820	B	.	.	.	.	1	0.81001	D	.	.	.	3.13	0.08014	T	-1.32	0.32991	N	0.141	0.17140	-0.9601	0.39162	T	0.017	0.06759	T	8	0.075534165	0.11687	T	0.042422	0.60457	D	0.042	0.11227	0.473	0.54859	0.233150807113	0.22925	.	.	.	.	0.547701478004	0.45533	T	.	.	.	-0.290318	0.09604	T	-0.654798	0.08622	T	0.429603158532435	0.30046	T	0.441056	0.12198	T	.	.	.	.	.	.	.	.	-5.073	0.37622	T	.	.	.	.	.	.;.	.;.	2.621798	0.34075	19.52	0.98831738548241499	0.46969	0.78159	0.38520	D	AEFI	0.292450	0.40332	N	-0.1412954714505	0.35606	2.047334	0.0119223341972131	0.40267	2.400417	0.496201815749716	0.20905	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.96	4.96	0.65153	1.434000	0.34567	3.589000	0.39183	0.709000	0.85303	0.997000	0.40164	0.992000	0.31684	0.992000	0.67800	1.0:0.0:0.0:0.0	12.415	0.54820	620	0.66037	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1842	916.48	81	chr1	225353860	.	AAC	GAC,A,*	916.48	.	AC=5,1,1;AF=0.132,0.026,0.026;AN=38;BaseQRankSum=-2.713e+00;DP=1152;ExcessHet=2.7391;FS=184.885;InbreedingCoeff=-0.1515;MLEAC=5,1,1;MLEAF=0.132,0.026,0.026;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=1.93;SOR=9.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,19,0,0:75:18:0|1:225353860_A_G:18,0,1530,184,1580,1764,184,1580,1764,1764:225353860	12	0	5	2
chr1	225353861	225353862	AC	-	exonic	DNAH14	.	frameshift deletion	DNAH14:NM_001367479:exon73:c.11592_11593del:p.K3864Nfs*14,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	916.48	81	chr1	225353860	.	AAC	GAC,A,*	916.48	.	AC=5,1,1;AF=0.132,0.026,0.026;AN=38;BaseQRankSum=-2.713e+00;DP=1152;ExcessHet=2.7391;FS=184.885;InbreedingCoeff=-0.1515;MLEAC=5,1,1;MLEAF=0.132,0.026,0.026;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=1.93;SOR=9.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,19,0,0:75:18:0|1:225353860_A_G:18,0,1530,184,1580,1764,184,1580,1764,1764:225353860	12	0	5	2
chr1	225353860	225353862	AAC	0	exonic	DNAH14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	916.48	81	chr1	225353860	.	AAC	GAC,A,*	916.48	.	AC=5,1,1;AF=0.132,0.026,0.026;AN=38;BaseQRankSum=-2.713e+00;DP=1152;ExcessHet=2.7391;FS=184.885;InbreedingCoeff=-0.1515;MLEAC=5,1,1;MLEAF=0.132,0.026,0.026;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=1.93;SOR=9.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,19,0,0:75:18:0|1:225353860_A_G:18,0,1530,184,1580,1764,184,1580,1764,1764:225353860	12	0	5	2
chr1	225353861	225353861	A	0	exonic	DNAH14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	464.81	81	chr1	225353861	.	A	G,*	464.81	.	AC=5,2;AF=0.147,0.059;AN=34;BaseQRankSum=-1.464e+00;DP=1141;ExcessHet=2.7391;FS=185.320;InbreedingCoeff=-0.2299;MLEAC=5,2;MLEAF=0.147,0.059;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=1.83;SOR=9.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:63,13,0:76:21:1|0:225353860_A_G:0,21,944,172,979,1129:225353860	10	0	5	4
chr1	225353862	225353862	C	G	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon73:c.C11593G:p.L3865V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.998	D	0.987	D	.	.	1.000	D	.	.	3.07	T	-1.168	T	0.067	T	0.206	3.493	17.86	4.96	2.441	4.553	15.452	0.169	0.184522215149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.495e-06	2.815e-05	1.481e-06	1.51e-06	1.943e-06	2.5e-07	9e-08	3.2e-07	1.2e-07	0	0	0	0	0	0	1.943e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.007	0.69154	D	0.998	0.73220	D	0.987	0.77487	D	.	.	.	.	1	0.81001	D	.	.	.	3.07	0.08547	T	-2.09	0.47683	N	0.478	0.51315	-1.1684	0.00571	T	0.067	0.27674	T	8	0.42786682	0.57295	T	0.184522	0.85755	D	0.169	0.43123	0.464	0.53404	0.539206206136	0.53571	.	.	.	.	0.575304269791	0.49425	T	.	.	.	-0.225988	0.17183	T	-0.562392	0.16153	T	0.954804537863371	0.64353	D	0.537746	0.18100	T	.	.	.	.	.	.	.	.	-5.635	0.43111	T	.	.	.	.	.	.;.	.;.	3.753409	0.53817	23.4	0.99763407953241845	0.85254	0.92830	0.56650	D	AEFI	0.645686	0.62149	D	0.612402131367579	0.73959	6.051873	0.603151193080595	0.75167	6.263177	0.909202901970934	0.26305	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.96	4.96	0.65153	4.575000	0.60619	4.515000	0.43664	0.563000	0.28513	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	15.452	0.75010	620	0.66037	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2	1666.88	81	chr1	225353862	.	C	G,CGGGG,*	1666.88	.	AC=5,2,1;AF=0.125,0.050,0.025;AN=40;BaseQRankSum=-1.746e+00;DP=1146;ExcessHet=3.5521;FS=219.813;InbreedingCoeff=-0.2595;MLEAC=5,2,1;MLEAF=0.125,0.050,0.025;MQ=60.00;MQRankSum=0.00;QD=2.59;ReadPosRankSum=1.17;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,19,0,0:75:18:0|1:225353860_A_G:18,0,1530,184,1580,1764,184,1580,1764,1764:225353860	12	0	5	1
chr1	225353862	225353862	-	GGGG	exonic	DNAH14	.	frameshift insertion	DNAH14:NM_001367479:exon73:c.11593_11594insGGGG:p.L3865Rfs*15,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1666.88	81	chr1	225353862	.	C	G,CGGGG,*	1666.88	.	AC=5,2,1;AF=0.125,0.050,0.025;AN=40;BaseQRankSum=-1.746e+00;DP=1146;ExcessHet=3.5521;FS=219.813;InbreedingCoeff=-0.2595;MLEAC=5,2,1;MLEAF=0.125,0.050,0.025;MQ=60.00;MQRankSum=0.00;QD=2.59;ReadPosRankSum=1.17;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,19,0,0:75:18:0|1:225353860_A_G:18,0,1530,184,1580,1764,184,1580,1764,1764:225353860	12	0	5	1
chr1	225353862	225353862	C	0	exonic	DNAH14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1666.88	81	chr1	225353862	.	C	G,CGGGG,*	1666.88	.	AC=5,2,1;AF=0.125,0.050,0.025;AN=40;BaseQRankSum=-1.746e+00;DP=1146;ExcessHet=3.5521;FS=219.813;InbreedingCoeff=-0.2595;MLEAC=5,2,1;MLEAF=0.125,0.050,0.025;MQ=60.00;MQRankSum=0.00;QD=2.59;ReadPosRankSum=1.17;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,19,0,0:75:18:0|1:225353860_A_G:18,0,1530,184,1580,1764,184,1580,1764,1764:225353860	12	0	5	1
chr1	225377378	225377378	T	C	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon79:c.T12658C:p.F4220L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.005	B	.	.	1.000	N	-1.48	N	3.47	T	-0.925	T	0.005	T	0.154	-1.037	0.211	1.09	0.294	0.574	8.376	0.046	0.0116066758946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.02951	T	0.406	0.14725	T	0.002	0.09854	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	-0.1	0.04694	N	3.47	0.05188	T	-1.67	0.39887	N	0.21	0.23380	-0.9248	0.44886	T	0.005	0.01578	T	9	0.0605765	0.07462	T	0.011607	0.29407	T	0.046	0.12618	0.546	0.66015	0.0482279557977	0.04254	.	.	.	.	0.568539500237	0.48471	T	0.002023	0.01432	T	-0.304001	0.08288	T	-0.674453	0.07326	T	0.0399423272159021	0.03680	T	0.39556	0.09932	T	0.13351198	0.31052	0.10735878	0.25844	0.13351198	0.31052	0.10735878	0.25843	-2.454	0.05475	T	.	.	0.777	0.76241	P	.;.;.	.;.;.	0.533444	0.09024	5.803	0.34329979157815255	0.02094	0.02229	0.06478	N	AEFBI	0.040848	0.06131	N	-1.31521407425997	0.03500	0.1564671	-1.19587670465252	0.05978	0.2864177	3.38899039422105E-4	0.06583	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.24	1.09	0.19517	0.568000	0.23326	0.478000	0.18778	0.624000	0.51786	0.047000	0.21291	0.218000	0.23694	0.464000	0.28207	0.0:0.3155:0.0:0.6845	8.376	0.31601	619	0.66147	Dynein heavy chain domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	953.98	41	chr1	225377378	.	T	C	953.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=870;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.94;ReadPosRankSum=2.06;SOR=0.700	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr1	225399269	225399269	A	T	exonic	DNAH14	.	stoploss	DNAH14:NM_001367479:exon86:c.A13854T:p.X4618Y,	.	.	446	1055	19	2	0	23	0.0107829	.	.	2816106	not_provided|DNAH14-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.830	12.08	3.25	0.849	1.844	7.546	.	.	0.0088	0.00199681	0.0080	0.0010	0.0110	0	0.0043	0.0100	0.0169	0.0086	0.0021863	338	154602	rs41305733	0.0082	0.0079	0.0080	0.0083	0.0095	0.0080	0.0080	0.0090	0.0090	0.0014	0.0033	0.0024	5.601e-05	0.0049	0.0095	0.0092	0.0074	0.0068	0.0064	0.0064	0.0066	0.0062	0.0101	0.0060	0.0059	0.0094	0.0092	0.0015	0.0230	0.0055	0.0029	0	0.0062	0.0034	0.0101	0.0052	0.0066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.159	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.2275	0.16981	T	-0.0891767	0.64224	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	0.245676	0.06257	2.709	0.77826113864670554	0.12038	0.85190	0.44301	D	AEFDBI	.	.	.	-0.120048347955809	0.36520	2.11208	-0.146601085914856	0.33539	1.919571	0.282508983074451	0.19002	0.106106	0.02776	0	0.105846	0.03286	0	0.083675	0.02720	0	0.09929	0.02979	0	0.224045	0.31500	4.38	3.25	0.36363	1.885000	0.39312	5.840000	0.50240	0.674000	0.70861	0.998000	0.41325	1.000000	0.68203	0.149000	0.20271	0.8996:0.0:0.1004:0.0	7.546	0.26936	634	0.64659	.;.;.	DNAH14	Cells_Cultured_fibroblasts	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2060.11	35	chr1	225399269	.	A	T	2060.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.960e-01;DP=880;ExcessHet=0.1072;FS=3.517;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.41;ReadPosRankSum=-2.740e-01;SOR=1.090	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,108,1620	19	0	2	0
chr1	225514708	225514708	G	A	exonic	ENAH	.	nonsynonymous SNV	ENAH:NM_001377483:exon6:c.C995T:p.A332V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.997	D	0.97	D	0.003	N	1.000	D	1.995	M	1.96	T	0.348	D	0.643	D	0.677	4.366	23.0	5.21	2.430	8.082	18.735	0.233	0.112320486811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.797e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.048	0.50514	D	0.997	0.70673	D	0.97	0.72226	D	0.003271	0.35183	N	0.226742	0.999596	0.58761	D	2.275	0.64647	M	-0.04	0.63240	T	-1.67	0.39887	N	0.63	0.64393	0.348	0.88309	D	0.643	0.87528	D	10	0.4695522	0.59778	T	0.11232	0.79042	D	0.233	0.53499	0.104	0.01698	0.612357999405	0.60923	0.16674359625552354	0.16594	0.92458102789	0.71591	0.674778223038	0.63520	T	0.277514	0.65013	T	0.133822	0.67732	D	-0.0455502	0.67325	D	0.946237564086914	0.62427	D	0.848015	0.53747	T	0.17252353	0.37948	0.16418302	0.38047	0.17252353	0.37948	0.16418302	0.38046	-10.699	0.78566	D	.	.	0.227	0.48510	B	.;.;.	.;.;.	4.298915	0.65622	24.9	0.99888774019022097	0.96359	0.99573	0.97585	D	AEFDBI	0.882683	0.81099	D	0.729987147899231	0.81600	7.559994	0.719044094803892	0.83827	8.124527	0.999999999997317	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.693117	0.63056	0	0.683762	0.67416	0	.	.	5.21	5.21	0.72005	8.455000	0.90207	11.320000	0.92525	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.735	0.91713	679	0.60090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4118	1135.81	96	chr1	225514708	.	G	A,C	1135.81	.	AC=12,2;AF=0.353,0.059;AN=34;BaseQRankSum=-2.271e+00;DP=1826;ExcessHet=14.4320;FS=241.820;InbreedingCoeff=-0.6100;MLEAC=13,2;MLEAF=0.382,0.059;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=0.733;SOR=12.218	GT:AD:DP:GQ:PL	0/2:55,0,19:74:19:19,169,1051,0,882,832	3	0	12	4
chr1	225514708	225514708	G	C	exonic	ENAH	.	nonsynonymous SNV	ENAH:NM_001377483:exon6:c.C995G:p.A332G	.	.	425	1069	28	0	0	28	0.0129271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.994	D	0.97	D	0.003	N	1.000	D	2.545	M	1.97	T	0.305	D	0.679	D	0.661	4.523	24.4	5.21	2.430	8.082	18.735	0.251	0.134379640135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0006	0.0002	0.0001	0.0002	0.0002	0.0001	0.0002	0.0002	9.689e-05	2.258e-05	3.953e-05	2.59e-05	0	0	0.0002	0.0001	7.146e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.183	0.39340	T	0.994	0.66517	D	0.97	0.72226	D	0.003271	0.35183	N	0.226742	0.999496	0.58761	D	2.62	0.76659	M	-0.04	0.63240	T	-1.88	0.43906	N	0.603	0.62950	0.305	0.87637	D	0.679	0.88907	D	10	0.44018695	0.58051	T	0.13438	0.81681	D	0.251	0.56024	0.122	0.02867	0.652436559791	0.64954	0.11579549220610402	0.11507	0.929717523318	0.71774	0.644413113594	0.59191	T	0.218669	0.58146	T	0.124294	0.66801	D	-0.0592364	0.66386	T	0.932058036327362	0.59784	D	0.871513	0.63166	D	0.18916725	0.40447	0.18597509	0.41743	0.18916725	0.40446	0.18597509	0.41742	-9.88	0.74330	D	.	.	0.252	0.51900	B	.;.;.	.;.;.	4.037834	0.59751	24.1	0.99785765454140729	0.87219	0.99631	0.98164	D	AEFDBI	0.890935	0.82643	D	0.742122182897517	0.82390	7.750937	0.716777429846324	0.83653	8.078442	0.999999999997317	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.693117	0.63056	0	0.683762	0.67416	0	.	.	5.21	5.21	0.72005	8.455000	0.90207	11.320000	0.92525	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.735	0.91713	679	0.60090	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	1135.81	96	chr1	225514708	.	G	A,C	1135.81	.	AC=12,2;AF=0.353,0.059;AN=34;BaseQRankSum=-2.271e+00;DP=1826;ExcessHet=14.4320;FS=241.820;InbreedingCoeff=-0.6100;MLEAC=13,2;MLEAF=0.382,0.059;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=0.733;SOR=12.218	GT:AD:DP:GQ:PL	0/2:55,0,19:74:19:19,169,1051,0,882,832	3	0	12	4
chr1	225519349	225519349	-	TCCAGGCGTTCCTGCCGC	exonic	ENAH	.	nonframeshift insertion	ENAH:NM_001008493:exon5:c.650_651insGCGGCAGGAACGCCTGGA:p.L222_D223insERQERL	.	.	438	957	106	11	10	138	0.0626836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	5434.36	33	chr1	225519331	.	ATCCAGGCGTTCCTGCCGC	ATCCAGGCGTTCCTGCCGCTCCAGGCGTTCCTGCCGC,A	5434.36	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-4.580e-01;DP=1490;ExcessHet=0.3300;FS=3.132;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=18.11;ReadPosRankSum=-1.450e+00;SOR=0.531	GT:AD:DP:GQ:PL	0/0:33,0,0:33:99:0,99,1290,99,1290,1290	18	0	1	0
chr1	225839874	225839874	C	A	exonic	EPHX1	.	nonsynonymous SNV	EPHX1:NM_001378431:exon5:c.C540A:p.N180K	Diphenylhydantoin toxicity (1);Hypercholanemia, familial	.	0	1514	8	0	0	8	0.00263505	.	.	3209078	EPHX1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.95	T	0.093	B	0.079	B	0.564	N	1.000	N	0.765	N	0.1	T	-0.919	T	0.089	T	0.041	-0.500	1.707	-7.23	-0.943	0.234	12.452	0.175	0.0580463014946	0.0005	0.000798722	0.0010	0.0004	0.0002	0	0.0003	0.0012	0	0.0016	0.0008538	132	154602	rs56300109	0.0006	0.0006	0.0005	0.0007	0.0026	0.0006	0.0006	0.0016	0.0013	0.0002	0.0004	3.826e-05	0	3.744e-05	0.0026	0.0006	0.0007	0.0015	0.0006	0.0006	0.0006	0.0006	0.0012	0.0005	0.0004	0.0008	0.0007	0.0001	0	0.0006	0	0	9.409e-05	0	0.0010	0.0005	0.0012	0.942	0.02186	T	0.941	0.02685	T	0.093	0.25333	B	0.079	0.28749	B	0.563827	0.11309	N	0.817193	1	0.08975	N	0.135	0.08676	N	0.1	0.61326	T	-0.21	0.10308	N	0.223	0.25006	-0.9192	0.45662	T	0.089	0.34381	T	10	0.009513944	0.00214	T	0.058046	0.67180	D	0.175	0.44197	0.68	0.81788	0.571728244252	0.56839	0.4982620954507305	0.49747	0.265673723044	0.29123	0.362915426493	0.19810	T	0.076948	0.35540	T	-0.606885	0.00132	T	-0.651	0.08885	T	0.00490997559517918	0.00053	T	0.514149	0.16548	T	0.031033054	0.02870	0.032764405	0.02064	0.031033054	0.02870	0.032764405	0.02063	-1.995	0.03162	T	.	.	0.229	0.46191	B	.;.;.	.;.;.	-0.155606	0.03325	0.581	0.49544032024821694	0.04228	0.25288	0.22654	N	AEFBCI	0.697441	0.65544	D	-1.54074626661922	0.01589	0.06944591	-1.61978530813967	0.01539	0.06974272	0.954650930170431	0.28144	0.706548	0.73137	0	0.550933	0.16991	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.32	-7.23	0.01331	0.518000	0.22554	-1.522000	0.05251	-0.362000	0.05498	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1592:0.619:0.0:0.2218	12.452	0.55019	637	0.64373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1177.98	33	chr1	225839874	.	C	A	1177.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.57;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=-1.610e+00;SOR=0.657	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,108,1620	20	0	1	0
chr1	225853676	225853676	G	A	exonic	TMEM63A	.	nonsynonymous SNV	TMEM63A:NM_014698:exon19:c.C1750T:p.R584C,	.	.	419	1094	9	0	0	9	0.0040965	.	.	3192478	TMEM63A-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	D	1.000	D	2.905	M	1.41	T	-0.505	T	0.253	T	0.953	5.271	33	5.45	2.562	9.726	19.288	0.728	0.0492004327872	0.0014	0.000798722	0.0016	0.0024	0.0072	0	0.0019	0.0018	0	0.0006	0.0008409	130	154602	rs75188792	0.0007	0.0007	0.0006	0.0008	0.0068	0.0007	0.0007	0.0051	0.0045	0.0015	0.0020	3.935e-05	5.208e-05	1.953e-05	0.0068	0.0007	0.0015	0.0004	0.0012	0.0012	0.0011	0.0012	0.0019	0.0010	0.0010	0.0014	0.0012	0.0012	0.0186	0.0019	0	0	0.0002	0.0102	0.0008	0.0076	0.0012	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.92	0.84325	M	1.41	0.33412	T	-7.32	0.94537	D	0.967	0.97750	-0.5051	0.68464	T	0.253	0.62337	T	10	0.07900062	0.12657	T	0.049	0.63711	D	0.728	0.90457	.	.	0.570020700114	0.56667	0.7869320622264573	0.78645	0.885137563501	0.69946	0.572756648064	0.49067	T	0.147636	0.48582	T	-0.0194096	0.48938	T	0.192867	0.82732	D	0.0798766800261202	0.09970	T	0.969303	0.88939	D	0.8484633	0.87222	0.759123	0.85767	0.8484633	0.87224	0.759123	0.85768	-9.409	0.70291	D	0.7017525084487362	0.78081	0.224	0.45605	B	.	.	5.814432	0.93670	33	0.99947735947656613	0.99923	0.99812	0.99628	D	AEFDBI	0.923388	0.89980	D	0.96605212451979	0.94601	12.88682	0.920471841969732	0.96404	14.65616	0.999999999999858	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	5.45	5.45	0.79688	9.858000	0.98409	11.332000	0.92542	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	19.288	0.94071	724	0.55085	Calcium-dependent channel, 7TM region, putative phosphate	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1024.98	34	chr1	225853676	.	G	A	1024.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=805;ExcessHet=0.0000;FS=3.759;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.25;ReadPosRankSum=0.955;SOR=0.568	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1250	20	0	1	0
chr1	225859264	225859264	T	C	exonic	TMEM63A	.	nonsynonymous SNV	TMEM63A:NM_014698:exon15:c.A1309G:p.T437A,	.	.	428	1082	12	0	0	12	0.00551471	.	.	1709657	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.28	T	1.0	D	0.996	D	0.000	D	1.000	D	3.06	M	1.57	T	-0.603	T	0.236	T	0.799	4.366	23.0	5.24	1.987	5.902	15.121	0.364	0.0165538578836	0.0004	0.000399361	0.0008	0	0.0002	0	0.0015	0.0008	0	0.0016	0.0006662	103	154602	rs149848059	0.0007	0.0007	0.0006	0.0007	0.0033	0.0006	0.0006	0.0022	0.0018	8.961e-05	0.0002	0.0040	0	0.0017	0.0033	0.0005	0.0009	0.0016	0.0006	0.0006	0.0005	0.0007	0.0015	0.0005	0.0004	0.0007	0.0005	2.411e-05	0	0.0003	0.0043	0	0.0010	0	0.0006	0.0019	0.0015	0.002	0.72154	D	0.009	0.66756	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	2.91	0.84121	M	1.57	0.29342	T	-4.88	0.81350	D	0.741	0.74098	-0.6026	0.64710	T	0.236	0.60355	T	10	0.04238665	0.02983	T	0.016554	0.37860	T	0.364	0.68407	.	.	0.397838977388	0.39401	0.8697822686528869	0.86943	0.745040649288	0.63462	0.623672246933	0.56247	T	0.094788	0.39487	T	-0.200704	0.20704	T	-0.0743041	0.65318	T	0.0936489957348904	0.11644	T	0.999883	0.99972	D	0.80730873	0.84377	0.68790513	0.81642	0.80730873	0.84378	0.68790513	0.81643	-11.597	0.82832	D	0.5821562219136742	0.64898	0.691	0.72585	P	.	.	4.614181	0.73203	26.0	0.99811349838816488	0.89531	0.97909	0.78046	D	AEFBI	0.691830	0.65170	D	0.739429626177363	0.82215	7.707942	0.68285554828568	0.81080	7.443284	0.999174914721863	0.38651	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	5.883000	0.69466	7.645000	0.63394	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.121	0.72119	749	0.51929	Calcium-dependent channel, 7TM region, putative phosphate	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	922.98	39	chr1	225859264	.	T	C	922.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.521e+00;DP=891;ExcessHet=0.0000;FS=2.535;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.71;ReadPosRankSum=0.477;SOR=0.692	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr1	225988203	225988203	T	C	exonic	SDE2	.	nonsynonymous SNV	SDE2:NM_152608:exon6:c.A827G:p.H276R,	.	.	427	1042	52	1	0	54	0.0252572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.0	B	0.0	B	0.148	N	1.000	N	0	N	1.02	T	-1.064	T	0.031	T	0.039	-0.345	2.370	-5.89	-1.523	-0.801	3.857	0.004	.	0.0086	0.00579073	0.0077	0.0053	0.0058	0	0.0018	0.0090	0.0122	0.0117	0.007529	1164	154602	rs41268719	0.0088	0.0088	0.0086	0.0089	0.0321	0.0086	0.0086	0.0283	0.0268	0.0077	0.0067	0.0189	5.038e-05	0.0022	0.0321	0.0088	0.0102	0.0124	0.0078	0.0078	0.0079	0.0077	0.0101	0.0074	0.0073	0.0081	0.0079	0.0065	0.0088	0.0093	0.0222	0	0.0011	0.0238	0.0087	0.0137	0.0101	0.307	0.14159	T	0.548	0.09489	T	0.0	0.02946	B	0.0	0.01387	B	0.147789	0.02938	N	1.557430	1	0.08975	N	0	0.06538	N	1.02	0.40749	T	0.2	0.04861	N	0.061	0.03283	-1.0637	0.10855	T	0.031	0.13330	T	10	0.002553016	0.00039	T	.	.	.	0.004	0.00165	.	.	0.101711395817	0.09552	0.047153908634088824	0.04658	0.218815070265	0.24419	0.195133239031	0.00329	T	0.001554	0.00995	T	-0.708939	0.00032	T	-0.780087	0.02450	T	0.002145647428267	0.00022	T	0.120588	0.00931	T	0.019646542	0.00500	0.022527758	0.00275	0.019646542	0.00500	0.022527758	0.00275	-2.56	0.06205	T	.	.	0.060	0.00890	B	.	.	-0.802183	0.01102	0.050	0.10180873463326895	0.00122	0.07098	0.13124	N	AEFDBCI	0.035649	0.04624	N	-2.26443823681653	0.00055	0.002349059	-2.25596343358124	0.00084	0.003677418	0.999806860516576	0.43304	0.706548	0.73137	0	0.779548	0.99637	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.57	-5.89	0.02093	-0.785000	0.04735	-1.633000	0.05020	-1.597000	0.00898	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.243:0.2402:0.4357:0.0811	3.857	0.08487	754	0.51307	.	H3F3A	Colon_Transverse	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4596.11	33	chr1	225988203	.	T	C	4596.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.331e+00;DP=1034;ExcessHet=0.1072;FS=0.378;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.56;ReadPosRankSum=1.04;SOR=0.662	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1269	19	0	2	0
chr1	226224000	226224000	C	T	exonic	MIXL1	.	nonsynonymous SNV	MIXL1:NM_001282402:exon1:c.C319T:p.R107W	.	.	425	1090	7	0	0	7	0.00320073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.862	P	0.015	N	0.973	N	2.24	M	-4.01	D	0.572	D	0.895	D	0.344	4.684	25.9	3.49	0.810	0.439	7.659	0.434	0.900933789567	.	.	0.0005	0	0.0001	0	0	0.0001	0.0021	0.0034	0.0003169	49	154602	rs747957426	0.0001	0.0002	6.704e-05	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	0	0	0	0	0	0.0012	2.354e-05	0.0002	0.0022	0.0001	0.0001	3.854e-05	0.0002	0.0027	7.572e-05	6.277e-05	0.0016	0.0013	0	0	0	0	0	0	0	5.881e-05	0.0005	0.0027	0.0	0.91255	D	0.004	0.74150	D	0.999	0.77913	D	0.862	0.61339	P	0.015159	0.28328	N	0.162599	0.972506	0.25597	N	3.56	0.93364	H	-4.01	0.96370	D	-5.3	0.84387	D	0.246	0.27792	0.572	0.91525	D	0.895	0.96515	D	10	0.07919586	0.12713	T	0.900934	0.99254	D	0.434	0.73951	.	.	0.925843201027	0.92508	0.6495239504867414	0.64888	1.40033982347	0.85192	0.727372169495	0.71122	T	0.95503	0.99378	D	-0.140905	0.29747	T	0.0180389	0.71503	D	0.258953778893937	0.23269	T	0.981802	0.93846	D	0.51876456	0.68188	0.63856864	0.78891	0.51876456	0.68189	0.63856864	0.78891	-7.526	0.57989	D	.	.	0.289	0.55842	B	.;.	.;.	4.304694	0.65759	24.9	0.9988251408110469	0.95813	0.52309	0.29101	D	ALL	0.431960	0.49403	N	0.235035163945215	0.52902	3.461771	0.123175580427114	0.45737	2.831576	0.999999997742531	0.74766	0.443343	0.08805	1	0.552344	0.17405	0	0.666236	0.60216	0	0.554799	0.18163	0	.	.	4.42	3.49	0.39065	-0.140000	0.10323	-0.080000	0.12189	0.597000	0.34315	0.000000	0.06391	0.004000	0.18990	0.987000	0.62547	0.1747:0.6282:0.197:0.0	7.659	0.27559	610	0.67008	.;Homeobox domain|Homeobox domain|Homeobox domain|Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1885.98	33	chr1	226224000	.	C	T	1885.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.744;DP=897;ExcessHet=0.0000;FS=2.658;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.48;ReadPosRankSum=2.25;SOR=0.498	GT:AD:DP:GQ:PL	0/1:96,84:180:99:1900,0,2230	20	0	1	0
chr1	226548933	226548933	C	G	exonic	STUM	.	nonsynonymous SNV	STUM:NM_001003665:exon1:c.C29G:p.T10R,	.	.	313	1206	1	0	2	3	0.000414422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.002	B	0.001	B	0.018	U	0.932	N	0	N	.	.	-1.050	T	0.047	T	0.289	1.964	12.52	3.01	1.500	1.425	8.534	0.038	0.265910485421	.	0.000399361	0.0030	0	0	0	0	0	0	0.0042	9.7e-05	15	154602	rs546139392	7.645e-05	8.165e-05	4.259e-05	0.0001	0.0015	6.385e-05	5.93e-05	0.0013	0.0012	4.121e-05	0	0	0	0	0	0	0.0001	0.0015	7.255e-05	7.232e-05	5.16e-05	9.446e-05	0.0015	3.986e-05	3.138e-05	0.0007	0.0005	9.66e-05	0	0	0	0	0	0	0	0	0.0015	0.194	0.20912	T	0.259	0.23097	T	0.002	0.09854	B	0.001	0.04355	B	0.018220	0.27535	U	0.235563	0.932311	0.27024	N	0	0.06538	N	.	.	.	0.21	0.05035	N	0.142	0.15328	-1.0500	0.14397	T	0.047	0.19998	T	9	0.0049435496	0.00106	T	0.26591	0.89691	D	0.038	0.09825	0.213	0.13210	0.159798565429	0.15598	0.7853237293404531	0.78483	1.14904947496	0.79149	.	.	.	0.004229	0.03640	T	-0.167066	0.25678	T	-0.477755	0.24685	T	0.0869769183982122	0.10855	T	0.641836	0.25394	T	0.14611104	0.33462	0.2264425	0.47622	0.14611104	0.33462	0.2264425	0.47621	-4.047	0.24504	T	.	.	0.133	0.28835	B	.;.	.;.	3.102563	0.41819	21.4	0.98342854829262727	0.40457	0.36162	0.25469	N	AEFDBI	0.079869	0.16139	N	-0.593333805983336	0.19145	0.9997695	-0.444126530836074	0.23715	1.294787	0.999925922865785	0.46280	0.59774	0.34471	0	0.596491	0.49125	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	3.01	3.01	0.33872	1.164000	0.31420	5.005000	0.46626	0.251000	0.18332	0.696000	0.28588	1.000000	0.68203	0.834000	0.39329	0.0:0.6663:0.3336:0.0	8.534	0.32512	612	0.66786	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	685.98	39	chr1	226548933	.	C	G	685.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.732;DP=776;ExcessHet=0.0000;FS=3.628;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.06;ReadPosRankSum=0.297;SOR=0.362	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,966	20	0	1	0
chr1	226736432	226736432	C	T	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.G1027A:p.V343M,	.	.	427	1092	3	0	0	3	0.00137174	.	.	2267764	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.23	T	0.015	B	0.007	B	0.105	N	1.000	N	0.205	N	1.76	T	-1.025	T	0.036	T	0.049	1.557	11.16	-1.09	-0.409	-0.156	6.534	0.007	0.00890764341178	0.0002	.	0.0003	0.0001	0.0006	0	0	0.0004	0	0.0003	0.0002652	41	154602	rs199795545	0.0003	0.0003	0.0002	0.0003	0.0029	0.0002	0.0002	0.0019	0.0015	0.0001	0.0004	3.826e-05	0	0	0.0029	0.0003	0.0004	0.0003	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	2.412e-05	0	0.0001	0	0	0	0.0032	0.0004	0.0005	0	0.21	0.19639	T	0.06	0.45744	T	0.015	0.17086	B	0.007	0.12992	B	0.104812	0.02582	N	1.936190	1	0.08975	N	0.69	0.16971	N	1.76	0.25996	T	0.04	0.09460	N	0.067	0.03956	-1.0251	0.22050	T	0.036	0.15726	T	10	0.02584678	0.00767	T	0.008908	0.23487	T	0.007	0.00512	.	.	0.202312658747	0.19855	0.11423920005933663	0.11351	0.198248602837	0.22201	0.398197293282	0.24818	T	0.050054	0.28486	T	-0.576773	0.00202	T	-0.748198	0.03557	T	0.0149355959147215	0.00318	T	0.675032	0.28342	T	0.036156416	0.04393	0.04187583	0.04860	0.036156416	0.04393	0.04187583	0.04860	-4.531	0.31292	T	.	.	0.146	0.46144	B	.;.;.	.;.;.	0.507183	0.08762	5.537	0.94287004509521166	0.24586	0.05797	0.11733	N	AEFDBHCI	0.057953	0.10837	N	-1.0949260225768	0.06736	0.310946	-1.11070511248466	0.07495	0.3647805	0.999948102287712	0.47345	0.685219	0.55550	0	0.672317	0.65289	0	0.674405	0.61402	0	0.636168	0.56350	0	.	.	4.43	-1.09	0.09397	-0.577000	0.05940	-0.325000	0.09934	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.599000	0.31363	0.0:0.3968:0.4311:0.1721	6.534	0.21541	845	0.36510	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1588.98	50	chr1	226736432	.	C	T	1588.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.670e-01;DP=1438;ExcessHet=0.0000;FS=1.506;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=0.905;SOR=0.886	GT:AD:DP:GQ:PL	0/0:73,0:73:99:0,100,1800	20	0	1	0
chr1	227040235	227040235	C	T	exonic	CDC42BPA	.	nonsynonymous SNV	CDC42BPA:NM_001366010:exon22:c.G2906A:p.R969H	.	.	437	1081	3	1	0	5	0.00230734	0.0005	0.046	2816125	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.983	D	0.594	P	0.000	D	0.809	N	1.155	L	-1.85	D	-0.142	T	0.455	T	0.239	1.522	11.04	2.95	0.842	7.099	7.050	0.328	.	7.7e-05	0.00299521	0.0012	0	0.0003	0	0	0.0002	0.0045	0.0079	0.0010673	165	154602	rs140416725	0.0005	0.0005	0.0003	0.0007	0.0074	0.0005	0.0005	0.0069	0.0067	0	8.994e-05	3.859e-05	2.534e-05	1.877e-05	0.0014	3.497e-05	0.0005	0.0074	0.0003	0.0003	0.0002	0.0004	0.0081	0.0002	0.0002	0.0061	0.0054	4.815e-05	0	6.545e-05	0	0	0	0	4.413e-05	0	0.0081	0.069	0.35537	T	0.095	0.39492	T	0.912	0.50421	P	0.493	0.47443	P	0.000059	0.53742	D	0.201014	0.574833	0.34608	D	1.265	0.31966	L	-1.85	0.84267	D	-0.13	0.13418	N	0.246	0.27792	-0.1417	0.79123	T	0.455	0.78778	T	10	0.006477922	0.00147	T	.	.	.	0.328	0.65026	.	.	0.705812128141	0.70325	0.19887948948461712	0.19804	0.292371504754	0.31654	0.437198847532	0.30194	T	0.038257	0.24774	T	-0.312651	0.07517	T	-0.216891	0.53035	T	0.105049150912904	0.12903	T	0.860314	0.64352	D	0.03059724	0.02750	0.040569793	0.04416	0.03059724	0.02750	0.040569793	0.04415	-3.739	0.21824	T	.	.	0.115	0.23113	B	.;.;.;.;.	.;.;.;.;.	4.902894	0.80603	27.4	0.95771741374436237	0.27778	0.95968	0.66939	D	AEFBI	0.907588	0.86181	D	-0.176825180499187	0.34101	1.942431	-0.103039637690081	0.35268	2.038363	0.0260203093278885	0.13685	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.88	2.95	0.33285	7.212000	0.77445	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.4878:0.3321:0.18	7.050	0.24244	721	0.55360	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1092.98	35	chr1	227040235	.	C	T	1092.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.49;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=-6.040e-01;SOR=0.701	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1350	20	0	1	0
chr1	227080900	227080900	T	G	exonic	CDC42BPA	.	nonsynonymous SNV	CDC42BPA:NM_014826:exon16:c.A2230C:p.I744L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.998	D	0.995	D	0.000	D	1.000	D	0.915	L	0.91	T	-0.933	T	0.108	T	0.501	3.199	16.71	5.49	2.076	7.679	15.574	0.140	.	0.0072	0.0081869	0.0020	0.0222	0.0011	0	0	0	0.0011	0	0.0019405	300	154602	rs77122651	0.0005	0.0005	0.0006	0.0004	0.0187	0.0005	0.0005	0.0175	0.0170	0.0187	0.0010	0	0	0	0.0003	8.095e-06	0.0011	0	0.0056	0.0056	0.0055	0.0057	0.0197	0.0053	0.0052	0.0185	0.0181	0.0197	0	0.0021	0	0	0	0	5.88e-05	0.0028	0	0.206	0.23541	T	0.365	0.23914	T	0.973	0.57599	D	0.982	0.75477	D	0.000000	0.84330	D	0.048935	0.999997	0.81001	D	1.525	0.38595	L	0.91	0.44856	T	-1.2	0.34198	N	0.5	0.65673	-0.9333	0.43650	T	0.108	0.39123	T	10	0.007877439	0.00179	T	.	.	.	0.140	0.37593	.	.	0.168254554758	0.16434	0.432299460068035	0.43146	0.493758875756	0.47968	0.84202849865	0.88404	D	0.100967	0.40728	T	-0.390742	0.02660	T	-0.31713	0.42887	T	0.022142787388302	0.00925	T	0.923508	0.72088	D	0.23644543	0.46495	0.23353183	0.48544	0.23644543	0.46495	0.23353183	0.48543	-8.837	0.68108	D	.	.	0.755	0.75282	P	.;.;.;.;.	.;.;.;.;.	4.493270	0.70214	25.5	0.98308246103835617	0.40116	0.98227	0.80721	D	AEDGBI	0.939067	0.93915	D	0.334052847901569	0.57903	3.959725	0.446315424163048	0.64482	4.704221	0.999978676094834	0.50053	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.49	5.49	0.81022	7.674000	0.83146	.	.	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.574	0.76101	697	0.58201	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1676.98	34	chr1	227080900	.	T	G	1676.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.100e-02;DP=884;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.98;ReadPosRankSum=-4.200e-01;SOR=0.674	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr1	227654936	227654936	G	T	exonic	ZNF678	.	nonsynonymous SNV	ZNF678:NM_001367911:exon3:c.G758T:p.R253I	.	.	.	.	.	.	.	.	.	.	.	2376244	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.28	T	0.199	B	0.033	B	.	.	1.000	N	2.34	M	1.83	T	-1.030	T	0.056	T	0.252	-0.335	2.414	-1.01	-0.551	-1.273	6.072	0.045	0.00260076746766	.	0.000199681	3.33e-05	0.0001	0	0	0	0	0	0.0002	3.88e-05	6	154602	rs527431317	1.301e-05	1.3e-05	9.537e-06	1.651e-05	0.0002	8.32e-06	6.71e-06	9.799e-05	7.844e-05	0	2.249e-05	0	2.524e-05	0	0	2.699e-06	0	0.0002	3.294e-05	3.284e-05	3.866e-05	2.696e-05	0.0002	1.263e-05	8e-06	3.248e-05	1.914e-05	9.646e-05	0	0	0	0	0	0	0	0	0.0002	0.334	0.12961	T	0.152	0.32249	T	0.199	0.29618	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	2.22	0.62911	M	1.83	0.24841	T	-1.28	0.32185	N	0.224	0.25253	-1.0300	0.20454	T	0.056	0.23753	T	9	0.08205789	0.13502	T	0.002601	0.05263	T	0.045	0.12272	0.723	0.85761	0.0846915920261	0.08053	0.020901992842201875	0.02043	0.0186665029899	0.01818	0.261111110449	0.05024	T	0.020573	0.16172	T	-0.411796	0.01934	T	-0.592625	0.13439	T	0.0256272535771132	0.01355	T	0.171083	0.01625	T	0.05159733	0.09499	0.07518834	0.16528	0.05159733	0.09499	0.07518834	0.16528	-6.692	0.51750	T	.	.	0.152	0.42506	B	.;.	.;.	0.804121	0.11749	8.324	0.62820814821451154	0.07061	0.00002	0.00064	N	AEFDBHCI	0.027752	0.02323	N	-1.25634944958282	0.04216	0.1898775	-1.42867694910006	0.02969	0.1376006	4.37243023116353E-4	0.06970	0.566229	0.32551	0	0.653731	0.59785	0	0.575934	0.27490	0	0.674467	0.66132	0	.	.	1.62	-1.01	0.09650	-0.423000	0.07102	.	.	-1.280000	0.01269	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3312:0.0:0.6688:0.0	6.072	0.19115	710	0.56735	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1177.98	34	chr1	227654936	.	G	T	1177.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.530e-01;DP=760;ExcessHet=0.0000;FS=0.931;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.59;ReadPosRankSum=-6.690e-01;SOR=0.507	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1161	20	0	1	0
chr1	227735219	227735219	C	G	exonic	JMJD4	.	nonsynonymous SNV	JMJD4:NM_001161465:exon1:c.G193C:p.D65H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.682	P	0.288	B	0.276	N	1.000	N	0	N	2.7	T	-1.020	T	0.020	T	0.077	2.195	13.30	0.033	-0.084	-0.044	5.654	0.030	0.0152716184731	.	.	1.711e-05	0	0	0.0003	0	0	0	0	6.5e-06	1	154602	rs754645573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.572e-06	6.567e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.119	0.28026	T	0.119	0.36101	T	0.328	0.41464	B	0.095	0.40614	B	0.276375	0.03804	N	1.594540	1	0.19599	N	0	0.06538	N	2.7	0.12162	T	-0.42	0.14193	N	0.113	0.17691	-1.0201	0.23682	T	0.020	0.08453	T	10	0.098368615	0.17780	T	0.015272	0.35904	T	0.030	0.07022	0.323	0.30387	0.235038932564	0.23097	0.5343508952673444	0.53360	0.187867217933	0.21109	0.632628142834	0.57518	T	0.001344	0.08431	T	-0.471902	0.00827	T	-0.730988	0.04283	T	0.118319750493624	0.14265	T	0.323368	0.06588	T	0.048998628	0.08630	0.061080582	0.11737	0.048998628	0.08629	0.061080582	0.11737	-4.441	0.30109	T	.	.	0.103	0.19879	B	.;.;.;.	.;.;.;.	0.871589	0.12444	8.978	0.85603146365765548	0.15996	0.00570	0.02584	N	AEFGBHCI	0.030716	0.03146	N	-0.879178227094881	0.11339	0.5466704	-0.959516442359865	0.10703	0.5407521	0.999999999999994	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.36	0.033	0.13497	0.764000	0.26197	.	.	-0.209000	0.08382	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.203:0.3458:0.4511:0.0	5.654	0.16911	716	0.55970	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1498.98	42	chr1	227735219	.	C	G	1498.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=2029;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=-1.580e-01;SOR=0.709	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1153	20	0	1	0
chr1	227767030	227767030	C	A	exonic	SNAP47	.	nonsynonymous SNV	SNAP47:NM_001323930:exon4:c.C1060A:p.L354M	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.999	D	0.982	D	0.006	N	0.734	D	2.43	M	1.92	T	-0.560	T	0.218	T	0.244	1.878	12.24	2.75	1.251	0.693	5.149	0.080	0.0125153735141	.	.	4.153e-05	0	0	0	0	7.556e-05	0	0	3.23e-05	5	154602	rs773745138	1.916e-05	1.915e-05	2.042e-05	1.788e-05	4.637e-05	1.328e-05	1.144e-05	1.583e-05	9.3e-06	0	0	0	0	0.0002	0	8.993e-06	8.279e-05	4.637e-05	1.97e-05	1.97e-05	1.284e-05	2.689e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	9.409e-05	0	2.94e-05	0	0	0.023	0.53900	D	0.044	0.50226	D	0.971	0.57185	D	0.839	0.60107	P	0.005952	0.32383	N	0.255216	0.624873	0.33754	D	2.645	0.77386	M	0.62	0.53302	T	-0.83	0.25551	N	0.266	0.33360	-0.5600	0.66404	T	0.218	0.58085	T	10	0.16574994	0.30972	T	0.012515	0.31146	T	0.080	0.23350	0.198	0.11110	0.702066023234	0.69948	0.2166993320194481	0.21585	0.311074138913	0.33413	0.458950817585	0.33167	T	0.037401	0.33658	T	-0.180805	0.23616	T	-0.389834	0.34572	T	0.418459946669093	0.29633	T	0.417958	0.11459	T	0.058154482	0.11664	0.06304279	0.12427	0.058154482	0.11664	0.06304279	0.12427	-4.504	0.30941	T	.	.	0.104	0.28464	B	.;.;.;.;.	.;.;.;.;.	2.875424	0.38031	20.6	0.99406519009104177	0.63075	0.62921	0.31929	D	AEFGBCI	0.136703	0.25746	N	0.0175349867111972	0.42652	2.574004	-0.0334571106993517	0.38214	2.248244	0.999999547285523	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.82	2.75	0.31439	0.913000	0.28233	.	.	0.599000	0.40250	1.000000	0.71638	0.996000	0.32793	0.094000	0.17991	0.0:0.6679:0.2156:0.1164	5.149	0.14329	711	0.56613	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1748.98	36	chr1	227767030	.	C	A	1748.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.164;DP=880;ExcessHet=0.0000;FS=1.356;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=2.49;SOR=0.848	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1262	20	0	1	0
chr1	228022872	228022872	G	A	exonic	WNT3A	.	nonsynonymous SNV	WNT3A:NM_033131:exon2:c.G277A:p.D93N,	.	.	.	.	.	.	.	.	.	.	.	1903869	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.5	T	0.007	B	0.007	B	0.024	N	0.990	D	0.23	N	-0.92	T	-1.024	T	0.166	T	0.042	1.372	10.51	-0.973	-0.370	1.006	11.926	0.098	0.0198545680158	.	.	0.0006	0	8.666e-05	0	0.0075	0.0002	0.0034	0	0.0004334	67	154602	rs201274685	0.0003	0.0003	0.0003	0.0003	0.0002	0.0003	0.0003	2.986e-05	1.805e-05	0	8.95e-05	0	0	0.0079	0.0002	1.35e-05	0.0001	0	0.0006	0.0006	0.0003	0.0010	6.539e-05	0.0005	0.0005	.	.	0	0	6.539e-05	0	0	0.0088	0	1.47e-05	0.0005	0	0.226	0.18562	T	0.252	0.23570	T	0.001	0.07471	B	0.007	0.12992	B	0.023949	0.26349	N	0.285265	0.990039	0.41073	D	-0.095	0.04716	N	-0.92	0.75108	T	0.04	0.06488	N	0.221	0.24758	-1.0240	0.22410	T	0.166	0.50356	T	10	0.008612722	0.00195	T	0.019855	0.42327	T	0.098	0.28162	.	.	0.229543500084	0.22568	0.3403874034364735	0.33951	0.724429857465	0.62389	0.327184975147	0.14508	T	0.547053	0.84595	D	-0.371235	0.03531	T	-0.574058	0.15080	T	0.0209881426536999	0.00800	T	0.89491	0.63503	D	0.046253562	0.07711	0.04741659	0.06826	0.046253562	0.07710	0.04741659	0.06826	-1.942	0.02970	T	.	.	0.096	0.15251	B	.	.	0.703164	0.10717	7.411	0.97136924631118327	0.32525	0.48643	0.28253	N	AEFDBCI	0.141950	0.26426	N	-0.968642335815988	0.09279	0.4384892	-0.874975271222525	0.12689	0.6541455	9.07333825192041E-4	0.07987	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.47	-0.973	0.09771	0.841000	0.27267	1.501000	0.26956	-0.194000	0.09177	0.559000	0.27417	0.740000	0.26476	0.210000	0.22183	0.3083:0.0:0.6917:0.0	11.926	0.52102	712	0.56465	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1457.98	35	chr1	228022872	.	G	A	1457.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.820;DP=781;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.51;ReadPosRankSum=-9.830e-01;SOR=0.682	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1196	20	0	1	0
chr1	228148724	228148724	G	A	exonic	GUK1	.	nonsynonymous SNV	GUK1:NM_001242840:exon7:c.G598A:p.G200R,	.	.	425	1077	20	0	0	20	0.00919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	0	N	1.33	T	-0.999	T	0.048	T	0.044	-0.382	2.204	-2.32	-0.872	0.261	8.373	0.029	0.00160157774497	.	0.000998403	0.0017	0.0001	0.0006	0	0.0002	0.0006	0.0034	0.0096	0.0013648	211	154602	rs72756242	0.0012	0.0012	0.0009	0.0015	0.0091	0.0011	0.0011	0.0085	0.0083	5.975e-05	0.0008	0.0009	0	0.0005	0.0042	0.0007	0.0011	0.0091	0.0006	0.0006	0.0005	0.0007	0.0064	0.0005	0.0005	0.0046	0.0040	7.215e-05	0	0.0003	0.0012	0.0002	0.0004	0	0.0006	0.0005	0.0064	0.008	0.58626	D	0.288	0.92824	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	0.76	0.02007	N	0.114	0.10198	-0.9993	0.30115	T	0.048	0.20355	T	6	0.0038777292	0.00073	T	0.001602	0.02574	T	0.035	0.08770	0.246	0.18139	0.159798565429	0.15598	0.6236756774860084	0.62300	0.351213491318	0.36967	0.215331941843	0.01058	T	0.00624	0.05676	T	-0.482266	0.00717	T	-0.458695	0.26743	T	0.0203556797957862	0.00735	T	0.450755	0.12737	T	.	.	.	.	.	.	.	.	-3.794	0.20715	T	.	.	0.113	0.22135	B	.;.	.;.	0.897310	0.12713	9.232	0.50664977611908646	0.04424	0.10357	0.15886	N	AEFDGBCI	0.328099	0.42887	N	-1.30896307039602	0.03572	0.1597915	-1.45459660276873	0.02729	0.1260354	0.999993240608195	0.74766	0.730579	0.87903	0	0.702456	0.74545	0	0.723109	0.80598	0	0.648885	0.59868	0	.	.	2.99	-2.32	0.06360	0.268000	0.18336	-0.302000	0.10107	-0.106000	0.15538	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.5977:0.0:0.4023:0.0	8.373	0.31591	551	0.72115	.;Guanylate kinase-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1599.98	35	chr1	228148724	.	G	A	1599.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=858;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=0.436;SOR=0.714	GT:AD:DP:GQ:PL	0/1:58,63:121:99:1614,0,1363	20	0	1	0
chr1	228158303	228158303	-	CGGCGCTGACGGCAAGGCGGC	exonic	GJC2	.	nonframeshift insertion	GJC2:NM_020435:exon2:c.545_546insCGGCGCTGACGGCAAGGCGGC:p.G190_T191insADGKAAG,	Leukodystrophy, hypomyelinating, 2, Autosomal recessive;Lymphedema, hereditary, IC, Autosomal dominant;Spastic paraplegia 44, autosomal recessive, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	1420506	Spastic_paraplegia	Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs758571008	4.602e-05	4.652e-05	4.544e-05	4.663e-05	5.533e-05	3.688e-05	3.356e-05	3.565e-05	3.217e-05	0	5.533e-05	0	0	0	0	4.634e-05	0.0002	2.479e-05	1.321e-05	1.315e-05	2.581e-05	0	2.424e-05	2.19e-06	8.2e-07	.	.	2.424e-05	0	0	0	0	0	0	1.475e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1173.94	33	chr1	228158303	.	T	TCGGCGCTGACGGCAAGGCGGC	1173.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.905;DP=816;ExcessHet=0.0000;FS=3.640;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.49;ReadPosRankSum=-4.689e+00;SOR=1.175	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1216	20	0	1	0
chr1	228158333	228158333	C	G	exonic	GJC2	.	nonsynonymous SNV	GJC2:NM_020435:exon2:c.C575G:p.P192R,	Leukodystrophy, hypomyelinating, 2, Autosomal recessive;Lymphedema, hereditary, IC, Autosomal dominant;Spastic paraplegia 44, autosomal recessive, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	421214	Spastic_paraplegia|GJC2-related_disorder|not_provided	Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MedGen:CN230087|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.13	T	0.049	B	0.01	B	0.000	N	1.000	N	1.01	L	-4.69	D	0.132	D	0.796	D	0.17	0.801	8.213	-3.98	-0.601	0.006	2.434	0.208	0.71961869104	0.0010	.	0.0034	0.0006	0.0013	0	0	0.0066	0	0.0010	0.0009379	145	154602	rs375318012	0.0015	0.0015	0.0015	0.0015	0.0018	0.0015	0.0014	0.0017	0.0017	0.0002	0.0001	3.936e-05	0	0.0002	0.0002	0.0018	0.0011	0.0011	0.0011	0.0011	0.0012	0.0010	0.0020	0.0010	0.0009	0.0017	0.0016	0.0004	0	0.0004	0.0003	0	0.0003	0	0.0020	0	0.0006	0.092	0.31682	T	0.244	0.24123	T	0.049	0.22227	B	0.01	0.14941	B	0.000003	0.00162	N	7739.210000	1	0.08975	N	1.735	0.44892	L	-4.69	0.98005	D	-0.58	0.17417	N	0.197	0.21710	0.132	0.84736	D	0.796	0.93093	D	10	0.01837939	0.00399	T	0.719619	0.97730	D	0.208	0.49714	.	.	0.516050471323	0.51246	0.2943064787236278	0.29343	.	.	0.77952080965	0.78855	T	0.418878	0.77108	T	-0.312536	0.07527	T	-0.226951	0.52065	T	0.0233854297548532	0.01069	T	0.330167	0.06908	T	0.061174344	0.12637	0.061516296	0.11892	0.061174344	0.12636	0.061516296	0.11891	-3.597	0.17813	T	0.11248283493045236	0.09737	0.068	0.02702	B	.	.	0.336096	0.07097	3.672	0.92055693168278452	0.21399	0.12118	0.17071	N	AEFBI	0.049222	0.08481	N	-1.2856089161511	0.03847	0.1726307	-1.3851474616222	0.03409	0.1589787	0.985551897002576	0.30907	0.582742	0.33608	0	0.588066	0.40923	0	0.61531	0.40942	0	0.604944	0.38103	0	.	.	3.99	-3.98	0.03810	-0.479000	0.06647	0.084000	0.14428	-0.404000	0.05286	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1416:0.2513:0.4183:0.1888	2.434	0.04206	548	0.72362	Connexin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1031.98	33	chr1	228158333	.	C	G	1031.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.717e+00;DP=846;ExcessHet=0.0000;FS=6.614;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=-3.270e-01;SOR=1.519	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1216	20	0	1	0
chr1	228216604	228216604	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon7:c.G2279A:p.R760Q	.	.	0	1506	16	0	0	16	0.00528402	.	.	2816134	not_provided|OBSCN-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.58	T	0.093	B	0.011	B	0.481	N	0.994	N	0.735	N	-0.27	T	-0.980	T	0.117	T	0.057	0.655	7.515	-5.63	-1.010	-0.013	14.566	0.165	.	0.0059	0.00279553	0.0122	0.0028	0.0046	0	0.0225	0.0171	0.0192	0.0087	0.0049935	772	154602	rs180689095	0.0079	0.0079	0.0080	0.0078	0.0088	0.0078	0.0077	0.0086	0.0086	0.0021	0.0030	0.0017	2.644e-05	0.0090	0.0053	0.0088	0.0065	0.0074	0.0059	0.0059	0.0063	0.0055	0.0094	0.0056	0.0055	0.0088	0.0085	0.0022	0.0033	0.0024	0.0014	0	0.0089	0	0.0094	0.0047	0.0058	0.612	0.05436	T	0.283	0.22561	T	0.093	0.25333	B	0.011	0.15521	B	0.480648	0.04979	N	1.354340	1	0.23644	N	0.94	0.23649	L	-0.27	0.67367	T	-1.62	0.38924	N	0.103	0.08925	-0.9796	0.35094	T	0.117	0.41341	T	10	0.0054911673	0.00121	T	.	.	.	0.165	0.42395	.	.	0.377097596864	0.37317	0.13569021650352167	0.13493	0.112562523064	0.12707	0.280211448669	0.07521	T	0.034287	0.23262	T	-0.586892	0.00175	T	-0.60413	0.12467	T	0.000865124745792732	0.00008	T	0.608539	0.24975	T	0.03769077	0.04881	0.039714605	0.04128	0.03664084	0.04547	0.039714605	0.04127	-5.556	0.42388	T	.	.	0.064	0.01738	B	.;.;.;.;.	.;.;.;.;.	0.506714	0.08757	5.532	0.84037164345253201	0.15061	0.00652	0.02836	N	AEFDBI	0.032702	0.03744	N	-1.42526678763177	0.02418	0.1067659	-1.49876145740299	0.02355	0.1081802	0.998577276214976	0.37226	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.613276	0.41899	0	.	.	5.06	-5.63	0.02276	-0.249000	0.08861	0.030000	0.13718	-0.161000	0.11593	0.004000	0.16614	0.000000	0.08366	0.054000	0.15518	0.3767:0.0:0.6233:0.0	14.566	0.67765	506	0.75555	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	rs180689095	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	1868.98	35	chr1	228216604	.	G	A	1868.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.05;DP=841;ExcessHet=0.0000;FS=4.207;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=0.171;SOR=1.059	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	20	0	1	0
chr1	228244353	228244353	C	T	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon11:c.C3263T:p.A1088V	.	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.083	B	0.053	B	0.014	N	1.000	N	0.6	N	3.63	T	-0.952	T	0.009	T	0.077	-0.890	0.459	-1.64	-0.626	-0.221	10.481	0.022	0.0140660880844	.	.	7.971e-05	0.0001	0.0005	0	0	1.599e-05	0	0.0001	3.84e-05	1	26028	rs754221291	3.91e-05	3.899e-05	4.365e-05	3.449e-05	0.0002	3.055e-05	2.79e-05	8.883e-05	6.443e-05	0	0.0002	0	7.557e-05	0	0	3.154e-05	6.639e-05	8.189e-05	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	1.0	0.18122	T	0.5	0.17696	T	0.016	0.24734	B	0.007	0.25678	B	0.014282	0.28577	N	0.288318	1	0.08975	N	0.38	0.12130	N	3.63	0.04353	T	-1.33	0.36385	N	0.179	0.27554	-0.9516	0.40695	T	0.009	0.03315	T	10	0.0888291	0.15333	T	0.014066	0.33936	T	0.022	0.04323	0.487	0.57098	0.183819452728	0.17975	0.08580414840294696	0.08514	0.093653211392	0.10581	0.254900276661	0.04302	T	0.044629	0.26875	T	-0.578211	0.00198	T	-0.783623	0.02346	T	0.0127842193066651	0.00217	T	0.526647	0.33070	T	0.012196822	0.00029	0.02951091	0.01296	0.012196822	0.00029	0.02951091	0.01296	-6.91	0.53373	T	.	.	0.085	0.10256	B	.;.;.;.;.	.;.;.;.;.	0.212145	0.05954	2.396	0.30756993341966615	0.01699	0.00432	0.02120	N	AEFBCI	0.064086	0.12424	N	-1.52978449312053	0.01657	0.07246394	-1.57567136408899	0.01805	0.08218054	0.00353013451993011	0.10159	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	3.8	-1.64	0.07874	-0.780000	0.04759	-6.107000	0.01495	-2.272000	0.00330	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.4628:0.0:0.5372	10.481	0.43882	459	0.78817	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	4107.98	42	chr1	228244353	.	C	T	4107.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.25;DP=1119;ExcessHet=0.0000;FS=1.272;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=1.29;SOR=0.712	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr1	228249974	228249974	C	T	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon14:c.C4043T:p.A1348V	.	.	0	1521	1	0	0	1	0.000328623	.	.	3219226	OBSCN-related_disorder	.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.61	T	0.314	B	0.024	B	0.243	N	1.000	N	-0.625	N	3.72	T	-0.962	T	0.005	T	0.019	-0.309	2.528	-1.66	-0.205	-2.492	4.084	0.006	0.0214078220831	0.0002	.	0.0001	0	8.64e-05	0	0	0.0002	0	0.0002	0.0001164	18	154602	rs199655077	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	5.974e-05	4.473e-05	0	0	0	0.0003	0.0003	0.0001	0.0002	0.0001	0.0001	0.0001	8.056e-05	0.0002	6.506e-05	5.318e-05	0.0001	9.897e-05	2.405e-05	0	0	0	0	0	0	0.0002	0	0.0002	0.637	0.59928	T	1.0	0.04247	T	0.314	0.32870	B	0.024	0.20255	B	0.242523	0.03592	N	1.591470	1	0.08975	N	-0.36	0.03115	N	3.72	0.05642	T	0.96	0.49684	N	0.064	0.04188	-0.9621	0.38781	T	0.005	0.01797	T	10	0.03290826	0.01453	T	0.021408	0.44174	T	0.006	0.00375	.	.	0.162503812791	0.15892	0.03688325079480214	0.03635	0.0951696656371	0.10743	0.244130223989	0.03174	T	0.017117	0.14019	T	-0.630341	0.00095	T	-0.847026	0.00998	T	0.00500720593865223	0.00054	T	0.0714929	0.00523	T	0.012085523	0.00027	0.022003852	0.00235	0.012085523	0.00027	0.022003852	0.00234	-3.372	0.14682	T	.	.	0.068	0.02733	B	.;.;.;.;.	.;.;.;.;.	-0.544409	0.01729	0.128	0.42491709288521495	0.03136	0.01598	0.05188	N	AEFGBI	0.028253	0.02456	N	-1.59984672805965	0.01265	0.0550587	-1.57376419271497	0.01817	0.08276613	5.35112614426073E-4	0.07248	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.31	-1.66	0.07824	-1.356000	0.02716	-8.423000	0.00972	-1.019000	0.01739	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2304:0.2721:0.0:0.4975	4.084	0.09413	455	0.79073	.;Immunoglobulin-like domain;Immunoglobulin-like domain;Immunoglobulin-like domain;Immunoglobulin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	2584.98	175	chr1	228249974	.	C	T	2584.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.667e+00;DP=1273;ExcessHet=0.0000;FS=4.610;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.77;ReadPosRankSum=0.409;SOR=0.421	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	20	0	1	0
chr1	228259762	228259762	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001271223:exon17:c.G5123A:p.R1708H,	.	.	0	1489	33	0	0	33	0.0109598	.	.	2816140	not_provided|OBSCN-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.28	T	.	.	.	.	.	.	1.000	N	.	.	3.56	T	-0.972	T	0.011	T	0.106	-0.038	3.818	-2.54	-0.511	-1.194	12.965	0.014	.	0.0080	0.00239617	0.0084	0.0018	0.0030	0	0.0036	0.0133	0.0056	0.0024	0.0078783	1218	154602	rs147633098	0.0093	0.0093	0.0093	0.0093	0.0220	0.0092	0.0091	0.0189	0.0177	0.0016	0.0045	0.0283	0.0001	0.0060	0.0220	0.0102	0.0099	0.0026	0.0067	0.0067	0.0071	0.0063	0.0103	0.0064	0.0062	0.0097	0.0094	0.0017	0.0241	0.0046	0.0202	0	0.0051	0.0272	0.0103	0.0071	0.0017	.	.	.	0.081	0.41742	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.20609	N	.	.	.	3.56	0.04696	T	.	.	.	0.073	0.04668	-0.9723	0.36712	T	0.011	0.04321	T	6	0.003629744	0.00066	T	.	.	.	.	.	.	.	0.256793551483	0.25290	0.16994627065651727	0.16914	0.115633920596	0.13049	0.202615946531	0.00537	T	.	.	.	-0.695139	0.00039	T	-0.760908	0.03080	T	0.00463822941397851	0.00050	T	0.20008	0.02257	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	-0.010789	0.04210	1.027	0.81329423621141439	0.13632	0.01331	0.04588	N	AEFDBI	0.063747	0.12339	N	-0.793613011190379	0.13475	0.6641176	-0.938894624292241	0.11182	0.5680889	1.9642407017775E-4	0.05898	0.660377	0.49826	0	0.573888	0.26702	0	0.696353	0.63694	0	0.613276	0.41899	0	.	.	5.25	-2.54	0.05941	-1.658000	0.02079	-20.000000	0.00162	-0.887000	0.02411	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.6034:0.0:0.3966:0.0	12.965	0.57880	452	0.79239	Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype	TRIM11|RP11-245P10.4|TRIM17|GUK1|TRIM11	Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Skin_Sun_Exposed_Lower_leg	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	3071.98	33	chr1	228259762	.	G	A	3071.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.672e+00;DP=905;ExcessHet=0.0000;FS=7.064;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.52;ReadPosRankSum=-6.500e-01;SOR=0.354	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1310	20	0	1	0
chr1	228275844	228275844	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon21:c.G6038A:p.R2013Q	.	.	2	1519	1	0	0	1	0.000329056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.993	D	0.544	P	0.001	N	1.000	D	1.845	L	3.56	T	-0.917	T	0.016	T	0.312	3.483	17.82	3.58	1.419	3.534	4.342	0.081	0.0372660320973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.745e-06	4.104e-06	4.094e-06	1.38e-06	0.0004	6.4e-07	4.3e-07	6.175e-05	2.552e-05	0	0	0	0	0	0.0004	1.801e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.18246	T	0.016	0.67890	D	0.993	0.65571	D	0.544	0.49014	P	0.001152	0.40056	N	0.157358	1	0.81001	D	1.905	0.50856	L	3.56	0.04696	T	-1.63	0.39119	N	0.435	0.47395	-0.9175	0.45891	T	0.016	0.06473	T	10	0.19226977	0.34949	T	0.037266	0.57510	D	0.081	0.23632	0.363	0.36874	0.446111551642	0.44232	0.17333200341863175	0.17253	0.51202870522	0.49259	0.386974424124	0.23242	T	0.032169	0.22369	T	-0.185455	0.22928	T	-0.50417	0.21915	T	0.720954537391663	0.41747	D	0.858314	0.58193	D	0.1248193	0.29276	0.0728957	0.15780	0.1248193	0.29276	0.0728957	0.15780	-7.247	0.55818	T	.	.	0.133	0.28807	B	.;.;.;.;.	.;.;.;.;.	3.812555	0.54996	23.6	0.99193020041881774	0.55053	0.76318	0.37421	D	ALL	0.207127	0.33333	N	-0.284923571530901	0.29731	1.651292	-0.292321629304803	0.28351	1.580113	0.999999999996759	0.74766	0.652421	0.48094	0	0.552344	0.17405	0	0.64067	0.45733	0	0.249971	0.05119	0	.	.	5.67	3.58	0.40133	2.959000	0.48846	6.263000	0.55349	-0.149000	0.12139	0.999000	0.42656	1.000000	0.68203	0.459000	0.28096	0.4501:0.0:0.5499:0.0	4.342	0.10553	439	0.80177	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	654.98	65	chr1	228275844	.	G	A	654.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.42;DP=777;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.08;ReadPosRankSum=0.636;SOR=0.737	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1064	20	0	1	0
chr1	228279394	228279394	T	C	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon27:c.T7346C:p.V2449A	.	.	2	1513	7	0	0	7	0.00230795	.	.	696541	not_provided|OBSCN-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.997	D	0.894	P	0.001	D	1.000	D	2.81	M	1.0	T	-0.578	T	0.200	T	0.378	2.851	15.50	4.47	1.791	7.798	14.048	0.223	0.237530812774	0.0062	0.00219649	0.0052	0.0007	0.0015	0	0.0093	0.0071	0.0046	0.0038	0.0052328	809	154602	rs200720682	0.0072	0.0071	0.0074	0.0069	0.0082	0.0070	0.0070	0.0081	0.0080	0.0010	0.0025	0.0018	2.521e-05	0.0088	0.0014	0.0082	0.0058	0.0034	0.0051	0.0051	0.0056	0.0047	0.0086	0.0048	0.0047	0.0080	0.0078	0.0012	0.0033	0.0017	0.0014	0	0.0089	0	0.0086	0.0038	0.0031	0.036	0.45039	D	0.003	0.92824	D	0.992	0.64738	D	0.798	0.58097	P	0.000625	0.42799	D	0.092821	0.760936	0.81001	D	2.685	0.78553	M	1.0	0.41392	T	-2.89	0.60665	D	0.5	0.53269	-0.5777	0.65708	T	0.200	0.55667	T	10	0.009488314	0.00214	T	0.237531	0.88548	D	0.223	0.52023	.	.	0.533276065955	0.52977	0.09685785480388628	0.09617	0.486009333891	0.47472	0.67583501339	0.63672	T	0.08595	0.37616	T	-0.376982	0.03255	T	-0.302608	0.44449	T	0.0566611394281673	0.06632	T	0.736726	0.38629	T	0.23640424	0.46490	0.20211934	0.44225	0.23794612	0.46666	0.20211934	0.44224	-10.418	0.76374	D	.	.	0.793	0.77204	P	.;.;.;.;.;.	.;.;.;.;.;.	3.397010	0.47056	22.4	0.90975387505068761	0.20225	0.98696	0.85696	D	AEFDBI	0.847991	0.76483	D	0.529113742556226	0.68819	5.269975	0.430530085280868	0.63474	4.582038	0.999999963369745	0.74766	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.47	4.47	0.53770	7.412000	0.79304	5.946000	0.51564	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.213000	0.22268	0.0:0.0:0.0:1.0	14.048	0.64238	433	0.80627	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.04762	2563.11	38	chr1	228279394	.	T	C	2563.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.48;DP=946;ExcessHet=0.1072;FS=1.117;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=1.26;SOR=0.784	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	19	0	2	0
chr1	228294842	228294842	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon43:c.G11458A:p.V3820M	.	.	0	1521	1	0	0	1	0.000328623	.	.	1789303	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.991	D	0.772	P	0.617	N	1.000	N	1.7	L	3.42	T	-0.953	T	0.041	T	0.324	3.064	16.23	1.59	-0.108	0.078	12.982	0.108	0.0029611393849	8.2e-05	.	4.971e-05	0	0	0.0005	0	1.5e-05	0	6.056e-05	3.88e-05	6	154602	rs371818048	2.875e-05	2.873e-05	1.634e-05	4.129e-05	0.0002	2.153e-05	1.909e-05	0.0001	0.0001	2.989e-05	6.734e-05	0	0.0002	1.873e-05	0	1.08e-05	1.657e-05	0.0002	4.601e-05	4.595e-05	2.573e-05	6.721e-05	0.0002	2.11e-05	1.527e-05	6.275e-05	4.295e-05	0.0001	0	0	0	0	0	0	0	0	0.0002	0.036	0.43393	D	0.012	0.69154	D	0.137	0.64070	B	0.027	0.56930	B	0.617039	0.05734	N	1.210850	1	0.08975	N	0.795	0.19620	N	3.42	0.05507	T	-0.73	0.21644	N	0.093	0.09914	-0.9528	0.40485	T	0.041	0.17488	T	10	0.11753315	0.22198	T	0.002961	0.06309	T	0.108	0.30607	.	.	0.0954503805726	0.09146	0.05251743736582365	0.05193	0.0931597170186	0.10528	0.218760341406	0.01239	T	0.031219	0.21942	T	-0.449387	0.01139	T	-0.574422	0.15046	T	0.0319732121479949	0.02302	T	0.0372963	0.00314	T	0.034858607	0.03992	0.05739778	0.10427	0.034858607	0.03991	0.05739778	0.10426	-5.078	0.42820	T	.	.	0.085	0.10400	B	.;.;.;.;.	.;.;.;.;.	0.729372	0.10985	7.647	0.79170518590379479	0.12622	0.00127	0.00790	N	AEFBI	0.024789	0.01590	N	-1.18676425350641	0.05200	0.2364685	-1.28121666968211	0.04684	0.2215374	1.55386502629633E-4	0.05650	0.651	0.46895	0	0.588015	0.36545	0	0.65145	0.50148	0	0.613276	0.41899	0	.	.	5.22	1.59	0.22622	0.224000	0.17520	-0.417000	0.09309	-2.657000	0.00221	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.8641:0.0:0.1359:0.0	12.982	0.57974	437	0.80299	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	4620.98	48	chr1	228294842	.	G	A	4620.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.76;DP=1224;ExcessHet=0.0000;FS=4.125;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.36;ReadPosRankSum=0.544;SOR=0.909	GT:AD:DP:GQ:PL	0/0:89,0:89:99:0,120,1800	20	0	1	0
chr1	228316781	228316781	G	T	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon51:c.G13358T:p.C4453F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.986	D	0.001	N	1.000	D	2.925	M	0.27	T	0.858	D	0.827	D	0.955	3.072	16.26	5.14	2.390	6.584	18.622	0.794	0.209509538532	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.853e-07	6.84e-07	1.364e-06	0	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.986	0.76916	D	0.001386	0.39175	N	0.227168	0.998904	0.51612	D	3.18	0.88827	M	-2.14	0.86415	D	-6.88	0.96992	D	0.582	0.60325	0.858	0.95126	D	0.827	0.94175	D	10	0.98826367	0.99235	D	0.20951	0.87203	D	0.794	0.93227	0.893	0.97460	0.942117216239	0.94151	0.7156316086333699	0.71506	0.607561866137	0.55563	0.662814259529	0.61812	T	0.308744	0.68082	T	0.437842	0.91917	D	0.391153	0.91817	D	0.992348313331604	0.82800	D	0.818018	0.47523	T	0.95633566	0.96909	0.88010913	0.93569	0.95633566	0.96909	0.88010913	0.93569	-14.448	0.94421	D	.	.	0.648	0.70840	P	.;.;.;.;.	.;.;.;.;.	3.845526	0.55678	23.6	0.92340639358589494	0.21739	0.92106	0.54958	D	AEFDBI	0.631728	0.61260	D	0.551835126819103	0.70195	5.465832	0.404124546259846	0.61821	4.387757	0.985233411427221	0.30852	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.14	5.14	0.70008	6.744000	0.74653	11.373000	0.92611	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.173000	0.21076	0.0:0.0:1.0:0.0	18.622	0.91279	443	0.79878	.;Immunoglobulin subtype;Immunoglobulin subtype;Immunoglobulin subtype;Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2084.98	46	chr1	228316781	.	G	T	2084.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.045e+00;DP=1224;ExcessHet=0.0000;FS=1.502;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.95;ReadPosRankSum=0.194;SOR=0.846	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:84,0:84:99:.:.:0,120,1800	20	0	1	0
chr1	228317999	228317999	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon53:c.G13957A:p.E4653K	.	.	.	.	.	.	.	.	.	.	.	3363024	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.42	T	0.021	B	0.021	B	0.002	N	1.000	N	1.845	L	-0.28	T	-0.912	T	0.222	T	0.35	1.899	12.31	3.6	1.144	1.767	12.065	0.161	0.0335860904972	7.8e-05	.	6.626e-05	0	0	0	0	8.995e-05	0	0.0001	5.17e-05	8	154602	rs199515361	2.121e-05	2.121e-05	1.906e-05	2.338e-05	0.0001	1.52e-05	1.324e-05	7.124e-05	5.482e-05	0	0	0	0	0	0	1.709e-05	1.656e-05	0.0001	2.628e-05	2.626e-05	2.569e-05	2.69e-05	0.0004	8.14e-06	5.14e-06	7.287e-05	3.028e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0004	0.102	0.30235	T	0.013	0.76473	D	0.017	0.18474	B	0.012	0.19346	B	0.002436	0.36574	N	0.124637	0.999997	0.08975	N	1.785	0.46417	L	-0.28	0.67543	T	-1.81	0.42575	N	0.292	0.36989	-0.9123	0.46569	T	0.222	0.58550	T	10	0.16915444	0.31507	T	0.033586	0.55087	D	0.161	0.41658	.	.	0.679282971961	0.67655	0.5481615214547346	0.54742	0.483180356244	0.47271	0.497045695782	0.38416	T	0.044023	0.26686	T	-0.18932	0.22358	T	-0.328194	0.41669	T	0.0910744864825385	0.11345	T	0.886111	0.61235	D	0.22574688	0.45242	0.20446156	0.44571	0.22574688	0.45242	0.20446156	0.44570	-6.414	0.52013	T	.	.	0.418	0.60587	A	.;.;.;.;.	.;.;.;.;.	2.159094	0.27505	17.49	0.77496913199010731	0.11900	0.58205	0.30579	D	AEFDBI	0.114605	0.22566	N	-0.547152860691065	0.20573	1.08552	-0.530957993214213	0.21314	1.152458	0.173318407149807	0.17767	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.51	3.6	0.40374	0.762000	0.26168	3.729000	0.39612	0.616000	0.49467	0.029000	0.20367	1.000000	0.68203	0.017000	0.10941	0.0852:0.0:0.9148:0.0	12.065	0.52881	443	0.79878	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1139.98	36	chr1	228317999	.	G	A	1139.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.434;DP=1046;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.62;ReadPosRankSum=0.231;SOR=0.665	GT:AD:DP:GQ:PL	0/0:80,0:80:99:0,120,1800	20	0	1	0
chr1	228338338	228338338	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon68:c.G17050A:p.A5684T	.	.	1	1520	0	1	0	2	0.000657462	.	.	1834400	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.32	T	0.617	P	0.173	B	0.054	N	0.866	N	0.55	N	0.55	T	-1.057	T	0.070	T	0.282	2.699	14.98	2.62	2.383	2.003	7.165	0.053	0.0236001773145	.	.	0.0003	0.0002	0	0	0	0.0001	0	0.0016	0.0001617	25	154602	rs763742491	7.074e-05	7.73e-05	3.823e-05	0.0001	0.0011	5.937e-05	5.544e-05	0.0009	0.0008	0	0	0	0	0	0	7.211e-06	8.307e-05	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.26085	T	0.165	0.37310	T	0.617	0.39849	P	0.173	0.35463	B	0.054303	0.22735	N	0.416497	0.981872	0.28285	N	1.39	0.34934	L	0.42	0.62318	T	-1.74	0.42191	N	0.157	0.16308	-1.0572	0.12465	T	0.070	0.28544	T	10	0.027658284	0.00909	T	0.024	0.46567	T	0.074	0.21613	0.166	0.07071	0.710190255469	0.70766	0.09459042643743366	0.09391	0.407052637198	0.41573	0.36315074563	0.19844	T	0.046655	0.27488	T	-0.391561	0.02628	T	-0.385668	0.35058	T	0.0470304789788696	0.04971	T	0.829117	0.50357	T	0.050614577	0.09171	0.066891454	0.13764	0.050614577	0.09171	0.066891454	0.13764	-5.614	0.44250	T	.	.	0.083	0.08997	B	.;.;.;.;.	.;.;.;.;.	2.537743	0.32823	19.16	0.92069689879047056	0.21415	0.91921	0.54552	D	AEFDBI	0.191279	0.31848	N	-0.0637202448820018	0.38991	2.292345	-0.0300093706899594	0.38365	2.25935	0.00418787158882899	0.10449	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.59	2.62	0.30337	2.049000	0.40912	4.170000	0.42267	-0.185000	0.09859	0.988000	0.36536	1.000000	0.68203	0.013000	0.09966	0.0:0.128:0.4611:0.4108	7.165	0.24864	436	0.80373	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	867.98	37	chr1	228338338	.	G	A	867.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.052;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=0.260;SOR=0.624	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr1	228338918	228338918	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon69:c.G17150A:p.S5717N	.	.	1	1511	10	0	0	10	0.00329815	.	.	799198	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.012	B	0.016	B	0.000	D	0.948	N	0.145	N	0.03	T	-0.997	T	0.104	T	0.074	4.590	25.0	2.99	1.323	0.621	5.974	0.071	0.0130428366387	8.4e-05	0.000399361	0.0007	0	0.0027	0	0	0.0008	0	0.0008	0.0002264	35	154602	rs376194851	0.0003	0.0003	0.0002	0.0003	0.0074	0.0002	0.0002	0.0057	0.0050	0.0002	0.0008	0.0004	0	0.0004	0.0074	0.0002	0.0005	0.0007	0.0002	0.0002	0.0003	0.0002	0.0014	0.0002	0.0001	0.0007	0.0005	0.0001	0	0.0003	0	0	9.406e-05	0	0.0002	0.0014	0.0014	0.014	0.55530	D	0.039	0.51112	D	0.01	0.16265	B	0.009	0.17743	B	0.000341	0.45440	D	0.192664	0.948424	0.26569	N	0.685	0.16464	N	0.03	0.62183	T	-1.58	0.41046	N	0.406	0.44666	-0.9967	0.30838	T	0.104	0.38243	T	10	0.00957787	0.00216	T	0.013043	0.32127	T	0.071	0.20720	.	.	0.591526896791	0.58829	0.13457952748991803	0.13381	0.0917990224253	0.10363	0.404391646385	0.25680	T	0.051877	0.29003	T	-0.459886	0.00985	T	-0.528457	0.19441	T	0.0159476293540028	0.00378	T	0.771423	0.40183	T	0.12906231	0.30156	0.14025399	0.33438	0.12906231	0.30156	0.14025399	0.33438	-6.91	0.55503	T	.	.	0.104	0.18869	B	.;.;.;.;.	.;.;.;.;.	1.988530	0.25265	16.70	0.98582845668533114	0.43258	0.52928	0.29249	D	AEFBCI	0.210226	0.33614	N	-0.435526316726677	0.24234	1.307065	-0.277289459965985	0.28848	1.611648	0.94741776455265	0.27752	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.562822	0.20929	0	.	.	4.97	2.99	0.33673	0.419000	0.20967	1.004000	0.23282	0.618000	0.50648	0.058000	0.21700	0.451000	0.24953	0.921000	0.45669	0.1911:0.2412:0.5677:0.0	5.974	0.18604	436	0.80373	.;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	838.98	33	chr1	228338918	.	G	A	838.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.000e-01;DP=757;ExcessHet=0.0000;FS=2.017;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=-7.200e-02;SOR=0.434	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1127	20	0	1	0
chr1	228340597	228340597	T	C	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon71:c.T17507C:p.V5836A	.	.	0	1497	25	0	0	25	0.00828089	.	.	732236	not_provided|OBSCN-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.625	P	0.339	B	0.003	N	0.998	D	1.04	L	1.39	T	-0.989	T	0.087	T	0.28	4.034	20.7	5.05	2.131	7.234	14.954	0.225	.	0.0007	0.00279553	0.0043	0.0003	0.0007	0	0	0.0014	0.0087	0.0158	0.00163	252	154602	rs200917956	0.0011	0.0011	0.0007	0.0014	0.0120	0.0010	0.0010	0.0114	0.0112	0	0.0006	0.0076	2.598e-05	0	0.0051	0.0002	0.0017	0.0120	0.0007	0.0007	0.0006	0.0009	0.0104	0.0006	0.0006	0.0081	0.0073	0.0001	0	0.0002	0.0061	0	0	0.0034	0.0004	0.0009	0.0104	0.007	0.63226	D	0.003	0.79402	D	0.571	0.40054	P	0.229	0.42346	B	0.002719	0.36068	N	0.170242	0.972961	0.44438	D	1.525	0.38595	L	1.39	0.33842	T	-2.92	0.62630	D	0.521	0.55106	-0.9888	0.32903	T	0.087	0.33802	T	10	0.011073947	0.00244	T	.	.	.	0.225	0.52323	.	.	0.565281569661	0.56191	0.5714366766659984	0.57071	0.306001842238	0.32896	0.508028149605	0.39947	T	0.225008	0.58962	T	-0.458175	0.01009	T	-0.420525	0.31016	T	0.0389036189833558	0.03493	T	0.809319	0.45944	T	0.28434536	0.51462	0.41967225	0.65953	0.4140542	0.61694	0.42326257	0.66202	-8.309	0.63156	D	.	.	0.631	0.70162	P	.;.;.;.;.	.;.;.;.;.	2.845605	0.37553	20.5	0.86377097821018733	0.16495	0.98232	0.80766	D	AEFDBCI	0.796990	0.72396	D	0.0357954173428836	0.43489	2.640882	0.0543666899548929	0.42283	2.554841	0.999999995789636	0.74766	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.05	5.05	0.67566	5.576000	0.67135	7.802000	0.69178	0.661000	0.55757	1.000000	0.71638	0.993000	0.31925	0.060000	0.15972	0.0:0.0:0.0:1.0	14.954	0.70748	436	0.80373	.;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.04762	942.11	33	chr1	228340597	.	T	C	942.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.67;DP=759;ExcessHet=0.1072;FS=1.765;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.33;ReadPosRankSum=0.844;SOR=0.901	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1298	19	0	2	0
chr1	228340848	228340848	A	G	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon72:c.A17657G:p.Y5886C	.	.	0	1521	0	1	0	2	0.00065703	.	.	707175	not_specified|not_provided|OBSCN-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	1.000	D	1.605	L	0.56	T	-0.484	T	0.247	T	0.778	4.039	20.7	5.04	2.128	7.045	13.499	0.502	.	0.0040	0.00339457	0.0012	0.0146	0.0009	0	0	0	0.0039	0	0.0009573	148	154602	rs200385051	0.0004	0.0004	0.0004	0.0003	0.0123	0.0003	0.0003	0.0114	0.0110	0.0123	0.0012	0	0	0	0.0009	1.446e-05	0.0009	3.572e-05	0.0036	0.0036	0.0035	0.0037	0.0122	0.0034	0.0033	0.0113	0.0109	0.0122	0	0.0025	0	0	0	0	4.41e-05	0.0024	0	0.0	0.91255	D	0.002	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000003	0.62929	D	0.000000	0.999573	0.58761	D	1.235	0.30780	L	0.42	0.61559	T	-6.88	0.93217	D	0.675	0.68255	-0.4844	0.69209	T	0.247	0.61589	T	10	0.011135191	0.00245	T	.	.	.	0.502	0.78475	.	.	0.812037875069	0.81027	0.5694184764812628	0.56869	0.53078089531	0.50606	0.798617959023	0.81752	T	0.276338	0.64892	T	-0.155613	0.27436	T	0.0160203	0.71371	D	0.0738865497849244	0.09186	T	0.988101	0.96008	D	0.72035444	0.79181	0.5959284	0.76540	0.77677613	0.82458	0.5295055	0.72816	-8.024	0.64244	D	.	.	0.743	0.74760	P	.;.;.;.;.	.;.;.;.;.	3.844147	0.55645	23.6	0.99184166599504731	0.54760	0.95752	0.66003	D	AEFDBHCI	0.860311	0.77815	D	0.594601833444561	0.72838	5.86896	0.555095866811882	0.71752	5.703029	0.99999998898785	0.74766	0.696267	0.57585	0	0.615948	0.52940	0	0.691665	0.62940	0	0.584449	0.35598	0	.	.	5.04	5.04	0.67293	7.022000	0.76169	11.068000	0.85542	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.069000	0.16583	1.0:0.0:0.0:0.0	13.499	0.60895	436	0.80373	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1087.98	33	chr1	228340848	.	A	G	1087.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.49;DP=1032;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.51;ReadPosRankSum=1.14;SOR=0.625	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1298	20	0	1	0
chr1	228368804	228368804	C	G	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon89:c.C19850G:p.A6617G	.	.	0	1521	0	1	0	2	0.00065703	.	.	2102351	not_provided|OBSCN-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.003	B	.	.	1.000	N	-0.45	N	-0.14	T	-1.002	T	0.012	T	0.202	2.532	14.43	-1.33	-0.489	0.212	4.190	0.017	.	0.0058	0.00459265	0.0015	0.0170	0.0008	0	0	0	0.0022	0	0.0014101	218	154602	rs192850272	0.0005	0.0005	0.0006	0.0004	0.0174	0.0005	0.0005	0.0162	0.0158	0.0174	0.0013	0	0	0	0.0012	1.259e-05	0.0012	6.956e-05	0.0049	0.0049	0.0046	0.0051	0.0166	0.0046	0.0045	0.0156	0.0151	0.0166	0	0.0027	0	0	0	0	4.41e-05	0.0033	0.0002	0.463	0.08660	T	0.175	0.29945	T	0.0	0.02946	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	-0.145	0.04423	N	-0.14	0.65006	T	-0.81	0.22294	N	0.163	0.17966	-1.0024	0.29226	T	0.012	0.04510	T	9	0.0043402016	0.00088	T	.	.	.	0.063	0.18251	.	.	0.506311303838	0.50268	0.2772593840166709	0.27638	0.0958156023377	0.10819	0.212377279997	0.00916	T	0.038953	0.25023	T	-0.508156	0.00514	T	-0.487112	0.23694	T	0.000185736541225888	0.00001	T	0.647135	0.25820	T	0.045694247	0.07525	0.041042134	0.04573	0.039185457	0.05362	0.046549074	0.06512	0.249	0.00272	T	.	.	0.095	0.15115	B	.;.;.;.	.;.;.;.	0.420573	0.07912	4.618	0.76648316324102883	0.11553	0.17285	0.19771	N	AEFDBHCI	0.110079	0.21841	N	-0.80140562993463	0.13274	0.652772	-0.874326011818334	0.12704	0.6550363	0.99995409552285	0.48110	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.09	-1.33	0.08693	0.287000	0.18678	-0.577000	0.08396	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.253000	0.23340	0.0:0.3717:0.3299:0.2985	4.190	0.09877	428	0.80967	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	2345.98	40	chr1	228368804	.	C	G	2345.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.184;DP=955;ExcessHet=0.0000;FS=1.740;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=1.21;SOR=0.745	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr1	228372322	228372322	C	T	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon94:c.C21544T:p.R7182C	.	.	0	1520	1	1	0	3	0.000985869	.	.	2398097	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.009	B	0.002	B	.	.	1.000	N	0.695	N	-0.21	T	-1.028	T	0.057	T	0.425	2.456	14.17	2.74	0.565	0.424	5.439	0.034	0.0255746609423	0.0002	.	0.0004	0	0	0	0.0034	0.0005	0.0037	0.0002	0.000194	30	154602	rs202143056	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	3.057e-05	0.0002	3.93e-05	5.306e-05	0.0016	0.0002	0.0002	0.0002	4.941e-05	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	9.692e-05	0.0001	7.894e-05	0	0	0.0002	0	0.0002	0.0008	0	0.0002	0	0	0.0	0.91255	D	0.002	0.79402	D	0.009	0.15093	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.59	0.40313	L	-0.21	0.66294	T	-3.1	0.76980	D	0.238	0.28732	-1.0275	0.21266	T	0.057	0.23791	T	9	0.014043361	0.00296	T	0.025575	0.48542	D	0.170	0.43303	.	.	0.706672402236	0.70412	0.2039103926499252	0.20308	0.375411668269	0.38996	0.304658412933	0.11100	T	0.226467	0.59150	T	-0.248941	0.14228	T	-0.289387	0.45837	T	0.100250926564212	0.12385	T	0.864214	0.56114	D	0.13178375	0.30707	0.12463486	0.30040	0.13178375	0.30707	0.12463486	0.30039	-4.993	0.36764	T	.	.	0.110	0.21277	B	.;.;.;.	.;.;.;.	2.160279	0.27519	17.49	0.952373707052945	0.26476	0.15583	0.18983	N	AEFDBCI	0.124049	0.23993	N	-0.587309310166345	0.19328	1.010758	-0.688933147010927	0.17236	0.9156224	0.999974745778036	0.50053	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.63	2.74	0.31352	0.539000	0.22885	2.783000	0.34747	0.599000	0.40250	0.000000	0.06391	0.071000	0.22219	0.000000	0.00833	0.1981:0.7:0.0:0.1019	5.439	0.15796	428	0.80967	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1540.98	67	chr1	228372322	.	C	T	1540.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=1504;ExcessHet=0.0000;FS=0.676;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=-4.940e-01;SOR=0.573	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	20	0	1	0
chr1	228376047	228376047	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon99:c.G22826A:p.C7609Y	.	.	0	1509	12	1	0	14	0.00461741	.	.	743725	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.28	T	0.675	P	0.202	B	0.004	N	1.000	D	2.05	M	2.01	T	-1.098	T	0.062	T	0.591	4.550	24.6	5.21	2.712	7.497	18.945	0.237	0.0192614281446	.	0.000599042	0.0004	0	0.0002	0	0	0.0001	0.0045	0.0018	0.0003428	53	154602	rs539506090	0.0002	0.0002	0.0001	0.0002	0.0024	0.0002	0.0001	0.0015	0.0013	0	2.236e-05	0.0005	2.519e-05	0	0.0024	5.576e-05	0.0004	0.0016	0.0001	0.0001	8.996e-05	0.0002	0.0017	8.165e-05	6.722e-05	0.0008	0.0006	0	0	0	0.0003	0	0	0	0.0001	0.0005	0.0017	0.0	0.91255	D	0.0	0.92824	D	0.675	0.41275	P	0.202	0.36942	B	0.003684	0.34611	N	0.266072	0.994686	0.43422	D	2.56	0.74772	M	2.01	0.21291	T	-5.87	0.88630	D	0.548	0.57433	-1.0979	0.04354	T	0.062	0.25994	T	10	0.034358174	0.01641	T	0.019261	0.41574	T	0.237	0.54074	.	.	0.543031892603	0.53955	0.7683801790416258	0.76787	0.633457458535	0.57241	0.581481218338	0.50294	T	0.276813	0.64941	T	-0.308493	0.07881	T	-0.251283	0.49690	T	0.223038576732511	0.21615	T	0.807219	0.45710	T	0.80426246	0.84179	0.8381216	0.90715	0.80426246	0.84181	0.8381216	0.90715	-8.016	0.61179	D	.	.	0.713	0.73487	P	.;.;.;.	.;.;.;.	3.584709	0.50557	23.0	0.98040367053105959	0.37782	0.99280	0.93881	D	AEFDBI	0.945949	0.95484	D	0.366833306634441	0.59634	4.144442	0.446872782938076	0.64516	4.708583	0.999999994335695	0.74766	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.21	5.21	0.72005	7.372000	0.78868	11.607000	0.93518	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.0:1.0:0.0	18.945	0.92594	428	0.80967	Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1512.98	36	chr1	228376047	.	G	A	1512.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.206e+00;DP=878;ExcessHet=0.0000;FS=3.023;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=-2.585e+00;SOR=0.630	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1193	20	0	1	0
chr1	228376098	228376098	C	T	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon99:c.C22877T:p.T7626M	.	.	0	1521	0	1	0	2	0.00065703	.	.	778790	not_provided|OBSCN-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.893	P	.	.	1.000	D	1.1	L	2.01	T	-1.149	T	0.056	T	0.511	4.054	20.8	5.74	2.712	1.619	9.734	0.151	.	0.0039	0.00399361	0.0012	0.0113	0.0009	0	0	0	0.0023	0.0012	0.001119	173	154602	rs184394044	0.0004	0.0004	0.0004	0.0004	0.0111	0.0004	0.0004	0.0102	0.0098	0.0111	0.0013	0	0	0	0.0009	2.518e-05	0.0009	0.0012	0.0033	0.0033	0.0031	0.0035	0.0109	0.0031	0.0030	0.0101	0.0098	0.0109	0	0.0023	0	0	0	0	7.351e-05	0.0028	0.0012	0.033	0.44358	D	0.016	0.60972	D	0.999	0.77913	D	0.893	0.63340	P	.	.	.	.	0.977275	0.26050	N	1.1	0.28011	L	2.01	0.21291	T	-2.22	0.49846	N	0.361	0.40565	-1.1488	0.01061	T	0.056	0.23639	T	9	0.008686632	0.00197	T	.	.	.	0.151	0.39764	.	.	0.57330664977	0.56998	0.3409646576591065	0.34009	0.500387696712	0.48461	0.478754103184	0.35885	T	0.083654	0.37103	T	-0.442878	0.01244	T	-0.397264	0.33704	T	0.0409353046935864	0.03860	T	0.880812	0.59928	D	0.04122391	0.06030	0.08304747	0.19001	0.04122391	0.06030	0.08304747	0.19001	-8.476	0.64270	D	.	.	0.205	0.43088	B	.;.;.;.	.;.;.;.	2.749321	0.36028	20.1	0.99012206473624442	0.50377	0.55589	0.29902	D	AEFDBI	0.151083	0.27550	N	0.316522593539708	0.56995	3.865482	0.292956802109291	0.55128	3.676118	0.999970344486263	0.50053	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.74	5.74	0.90070	2.529000	0.45292	7.524000	0.59808	0.599000	0.40250	0.990000	0.36992	1.000000	0.68203	0.221000	0.22489	0.0:0.8097:0.0:0.1903	9.734	0.39542	428	0.80967	Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1835.98	36	chr1	228376098	.	C	T	1835.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.458;DP=909;ExcessHet=0.0000;FS=7.729;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.74;ReadPosRankSum=-5.000e-01;SOR=0.838	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1193	20	0	1	0
chr1	228487495	228487495	C	T	exonic	RNF187	.	nonsynonymous SNV	RNF187:NM_001010858:exon1:c.C7T:p.L3F,	.	.	431	1087	3	1	0	5	0.00229463	.	.	2345098	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1006476921	0.0003	0.0002	0.0003	0.0003	0.0064	0.0002	0.0002	0.0039	0.0032	0.0003	0.0006	0.0003	0	0	0.0064	0.0002	0.0001	0.0016	0.0002	0.0002	0.0002	0.0002	0.0008	0.0002	0.0001	0.0003	0.0002	4.839e-05	0	0.0004	0.0003	0	9.992e-05	0.0103	0.0002	0	0.0008	.	.	.	0.0	0.92824	D	0.948	0.53620	P	0.478	0.47030	P	.	.	.	.	0.998461	0.22137	N	1.43	0.35840	L	.	.	.	.	.	.	0.08	0.05542	.	.	.	.	.	.	.	0.16893631	0.31473	T	.	.	.	.	.	.	.	0.651660614473	0.64876	0.1813352742045692	0.18052	.	.	0.817205429077	0.84600	D	0.036184	0.24008	T	-0.036724	0.46434	T	-0.290528	0.45718	T	.	.	.	.	.	.	0.06026763	0.12347	0.15776184	0.36874	0.06026763	0.12346	0.15776184	0.36873	-5.347	0.40406	T	.	.	0.119	0.24532	B	.;.	.;.	2.787682	0.36639	20.3	0.9677352149948798	0.31045	0.03330	0.08404	N	ALL	.	.	.	.	.	.	.	.	.	0.999999301839419	0.74766	0.142881	0.03202	1	0.090139	0.02499	0	0.158946	0.03948	1	0.088244	0.02422	0	0.12303	0.24969	3.46	2.21	0.27042	0.326000	0.19391	0.488000	0.18872	0.387000	0.20461	0.002000	0.15269	0.000000	0.08366	0.953000	0.50222	0.0:0.7429:0.2571:0.0	11.220	0.48078	288	0.88579	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1443.11	34	chr1	228487495	.	C	T	1443.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.720e-01;DP=794;ExcessHet=0.1072;FS=2.263;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=0.515;SOR=0.502	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1264	19	0	2	0
chr1	228510442	228510442	G	A	exonic	BTNL10	.	nonsynonymous SNV	BTNL10:NM_001287262:exon3:c.C544T:p.P182S,	.	.	424	1091	7	0	0	7	0.00319781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	.	.	.	.	.	.	.	.	0.625	N	.	.	-0.993	T	0.054	T	.	-0.724	0.895	2.16	0.463	0.477	7.214	0.035	.	.	0.00239617	0.0053	0.0035	0.0035	0.0063	0	0.0040	0.0132	0.0063	0.0009573	148	154602	rs189572020	0.0025	0.0020	0.0023	0.0027	0.0229	0.0024	0.0024	0.0192	0.0178	0.0006	0.0031	0.0055	0.0076	0.0002	0.0229	0.0020	0.0040	0.0064	0.0024	0.0024	0.0020	0.0028	0.0073	0.0022	0.0021	0.0054	0.0048	0.0004	0	0.0061	0.0058	0.0052	0.0003	0.0170	0.0022	0.0052	0.0073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1498.98	36	chr1	228510442	.	G	A	1498.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.800e-02;DP=819;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.60;ReadPosRankSum=0.011;SOR=0.644	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1301	20	0	1	0
chr1	228511918	228511918	G	A	exonic	BTNL10	.	nonsynonymous SNV	BTNL10:NM_001287262:exon2:c.C40T:p.P14S,	.	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	.	.	.	.	.	.	.	.	2.39	M	.	.	-0.131	T	0.331	T	.	2.366	13.87	3.82	2.093	2.380	14.062	0.251	.	.	0.00239617	0.0061	0.0024	0.0041	0.0069	0	0.0041	0.0159	0.0127	0.0009314	144	154602	rs182509913	0.0025	0.0020	0.0023	0.0027	0.0223	0.0024	0.0024	0.0187	0.0173	0.0006	0.0031	0.0055	0.0077	0.0002	0.0223	0.0020	0.0039	0.0066	0.0024	0.0024	0.0020	0.0028	0.0072	0.0022	0.0021	0.0054	0.0048	0.0004	0	0.0062	0.0058	0.0052	0.0003	0.0170	0.0022	0.0057	0.0072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1920.98	43	chr1	228511918	.	G	A	1920.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.32;DP=916;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.49;ReadPosRankSum=-7.820e-01;SOR=0.703	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr1	229486489	229486489	G	A	exonic	NUP133	.	nonsynonymous SNV	NUP133:NM_018230:exon11:c.C1382T:p.P461L,	.	.	432	1083	7	0	0	7	0.00322135	.	.	2058436	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.65	T	0.901	P	0.475	P	0.000	N	1.000	D	2.015	M	1.04	T	-1.044	T	0.035	T	0.419	3.550	18.11	4.3	1.321	6.520	13.987	0.303	.	0.0111	0.00998403	0.0034	0.0310	0.0023	0	0	0.0008	0.0022	0.0010	0.0033117	512	154602	rs35442997	0.0014	0.0015	0.0016	0.0013	0.0350	0.0014	0.0014	0.0334	0.0327	0.0350	0.0027	0.0045	0	0	0.0092	0.0004	0.0026	0.0013	0.0096	0.0096	0.0101	0.0090	0.0322	0.0092	0.0090	0.0308	0.0302	0.0322	0	0.0043	0.0038	0	0	0.0068	0.0004	0.0066	0.0004	0.015	0.52492	D	0.01	0.65728	D	0.901	0.49677	P	0.475	0.46927	P	0.000247	0.46924	N	0.251116	1	0.81001	D	2.645	0.77386	M	1.04	0.40218	T	-7.49	0.95015	D	0.848	0.84401	-1.0437	0.16207	T	0.035	0.15030	T	10	0.011242628	0.00247	T	.	.	.	0.303	0.62400	.	.	0.596373027241	0.59316	0.8607316831539459	0.86037	0.654707559036	0.58537	0.51627779007	0.41103	T	0.689195	0.90947	D	-0.371551	0.03517	T	-0.282109	0.46588	T	0.0792954601727821	0.09895	T	0.863714	0.56064	D	0.663883	0.76106	0.33143714	0.59002	0.663883	0.76107	0.33143714	0.59002	-7.718	0.59133	D	.	.	0.311	0.53853	B	.	.	4.685243	0.75020	26.3	0.99473740723852122	0.66472	0.98688	0.85598	D	AEFBI	0.492064	0.52886	N	0.227933375759623	0.52558	3.429105	0.235388365812326	0.51823	3.361534	0.987688502237334	0.31320	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.21	4.3	0.50540	6.731000	0.74591	8.628000	0.77841	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0737:0.0:0.9263:0.0	13.987	0.63854	884	0.28482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1470.98	33	chr1	229486489	.	G	A	1470.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.810e-01;DP=891;ExcessHet=0.0000;FS=4.212;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=0.334;SOR=0.423	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1215	20	0	1	0
chr1	229508170	229508170	G	C	exonic	NUP133	.	nonsynonymous SNV	NUP133:NM_018230:exon1:c.C80G:p.S27C,	.	.	0	225	1	0	0	1	0.00221729	.	.	2126028	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.845	P	0.533	P	0.025	N	0.983	D	0.69	N	1.85	T	-0.878	T	0.132	T	0.374	4.604	25.1	5.52	2.593	5.213	17.613	0.074	0.0562517232202	.	.	5.92e-05	0.0005	0	0	0.0006	0	0	0	2.59e-05	4	154602	rs745951330	1.389e-05	1.505e-05	9.663e-06	1.818e-05	0.0002	9.07e-06	7.38e-06	4.191e-05	2.547e-05	0.0001	4.768e-05	0	0	0.0002	0.0002	9.068e-07	5.059e-05	0	4.598e-05	4.596e-05	1.284e-05	8.066e-05	0.0002	2.108e-05	1.526e-05	7.887e-05	5.584e-05	0.0002	0	0	0	0	0	0	0	0	0	0.016	0.51853	D	0.028	0.54934	D	0.845	0.46707	P	0.533	0.48638	P	0.024763	0.26205	N	0.442604	0.983232	0.39989	D	2.25	0.63811	M	1.85	0.24472	T	-0.83	0.22727	N	0.469	0.50508	-0.8782	0.49903	T	0.132	0.44288	T	10	0.27013004	0.44543	T	0.056252	0.66537	D	0.074	0.21613	0.162	0.06618	0.553185271108	0.54975	0.4188808952318151	0.41804	0.623551032226	0.56587	0.540426552296	0.44506	T	0.22134	0.58489	T	-0.289308	0.09705	T	-0.355788	0.38541	T	0.443001538515091	0.30540	T	0.708429	0.31914	T	0.21402718	0.43797	0.22009239	0.46772	0.21402718	0.43797	0.22009239	0.46771	-8.409	0.63825	D	.	.	0.098	0.16187	B	.	.	5.020403	0.83434	28.0	0.99475968227117118	0.66579	0.82345	0.41586	D	ALL	0.509439	0.53890	D	0.343409440542453	0.58391	4.011184	0.411218814900698	0.62261	4.438783	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.52	5.52	0.82153	5.437000	0.66293	6.549000	0.55905	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.677000	0.33454	0.0:0.0:1.0:0.0	17.613	0.87960	884	0.28482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	723.98	36	chr1	229508170	.	G	C	723.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=768;ExcessHet=0.0000;FS=0.878;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.40;ReadPosRankSum=0.601;SOR=0.580	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1183	20	0	1	0
chr1	229558205	229558205	C	A	exonic	ABCB10	.	nonsynonymous SNV	ABCB10:NM_012089:exon1:c.G448T:p.A150S,	.	.	474	1042	6	0	0	6	0.00287081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.018	B	0.008	B	0.459	N	1.000	N	0.695	N	-2.26	D	-1.024	T	0.053	T	0.127	0.629	7.379	1.59	0.553	0.604	9.593	0.087	.	.	0.0171725	0.0037	0	0	0.01	.	0.0019	0.0167	0.0039	0.0020116	311	154602	rs4148756	0.0041	0.0044	0.0042	0.0041	0.0971	0.0040	0.0040	0.0940	0.0927	0.0006	0.0482	0.0004	0.0971	0.0208	0.0014	0.0005	0.0049	0.0021	0.0072	0.0072	0.0061	0.0084	0.0456	0.0068	0.0067	0.0408	0.0390	0.0012	0	0.0343	0	0.0456	0.0147	0	0.0011	0.0156	0.0043	0.255	0.16848	T	0.299	0.20422	T	0.018	0.17786	B	0.008	0.13708	B	0.459200	0.12412	N	0.710029	1	0.08975	N	0.985	0.24966	L	-2.26	0.87352	D	-0.19	0.09965	N	0.113	0.10056	-1.0237	0.22508	T	0.053	0.22423	T	10	0.0018955469	0.00026	T	.	.	.	0.087	0.25287	.	.	.	.	0.17563211044986582	0.17482	0.338778568637	0.35842	0.753332853317	0.74939	T	0.015786	0.13173	T	-0.403426	0.02198	T	-0.265417	0.48283	T	0.0247504426443428	0.01240	T	0.337566	0.07230	T	0.04225667	0.06374	0.06964805	0.14701	0.04225667	0.06374	0.06964805	0.14700	-5.485	0.41728	T	.	.	0.093	0.14108	B	.	.	0.854645	0.12271	8.811	0.89775729279939165	0.19091	0.03331	0.08406	N	ALL	0.022701	0.01168	N	-1.03960194683951	0.07793	0.3632279	-1.05076203629099	0.08691	0.4285844	0.999999999999807	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.231153	0.04653	2	0.249971	0.05119	0	.	.	3.98	1.59	0.22622	0.041000	0.13813	-0.878000	0.07076	-0.352000	0.05559	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1306:0.651:0.2184:0.0	9.593	0.38722	745	0.52414	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	135.99	16	chr1	229558205	.	C	A	135.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.180;DP=372;ExcessHet=0.0000;FS=2.808;InbreedingCoeff=-0.0250;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=-1.113e+00;SOR=1.919	GT:AD:DP:GQ:PL	0/0:12,0:12:36:0,36,298	20	0	1	0
chr1	229614464	229614464	C	T	exonic	TAF5L	.	nonsynonymous SNV	TAF5L:NM_001025247:exon2:c.G19A:p.E7K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.997	D	0.000	D	1.000	D	2.095	M	0.54	T	-0.281	T	0.438	T	0.89	6.009	37	5.77	2.732	7.452	20.002	0.346	0.0743032420042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	2.722e-06	2.75e-06	3.597e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.027	0.92824	D	0.999	0.90584	D	0.98	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.28	0.64929	M	0.04	0.62051	T	-0.86	0.66549	N	0.936	0.96871	-0.2806	0.75524	T	0.438	0.77695	T	9	0.7513443	0.75660	D	0.074303	0.72007	D	0.346	0.66769	0.402	0.43245	0.710910423371	0.70838	0.664216391094955	0.66358	0.642444202112	0.57808	0.797382831573	0.81565	T	0.08921	0.44873	T	0.329859	0.85155	D	0.236043	0.84961	D	0.973430991172791	0.70095	D	0.845915	0.56644	T	0.6665391	0.76248	0.5883987	0.76123	0.6665391	0.76249	0.5883987	0.76124	-7.179	0.55330	T	.	.	0.841	0.89526	P	.;.;.;.	.;.;.;.	5.310230	0.89146	29.9	0.99934558451644306	0.99535	0.98795	0.86952	D	AEFBI	0.852769	0.76968	D	0.793528142876029	0.85699	8.654641	0.795451576270333	0.89474	9.990287	0.999999999999969	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	5.77	5.77	0.91077	7.552000	0.81138	7.629000	0.62648	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	20.002	0.97411	519	0.74455	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2338.98	42	chr1	229614464	.	C	T	2338.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=1273;ExcessHet=0.0000;FS=3.482;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=1.22;SOR=0.875	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,120,1800	20	0	1	0
chr1	229659277	229659277	G	A	exonic	URB2	.	nonsynonymous SNV	URB2:NM_001314021:exon10:c.G4555A:p.E1519K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.941	D	0.000	D	1.000	D	1.905	M	0.82	T	-0.656	T	0.275	T	0.662	5.259	33	5.5	2.576	8.174	19.015	0.180	0.022527275655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.018	0.59732	D	0.999	0.77913	D	0.941	0.67658	D	0.000000	0.84330	D	0.046950	1	0.81001	D	2.515	0.73286	M	0.82	0.48142	T	-1.39	0.34397	N	0.705	0.70878	-0.6557	0.62465	T	0.275	0.64629	T	9	0.79105794	0.78664	D	0.022527	0.45427	T	0.180	0.45073	0.49	0.57573	0.689874887879	0.68721	0.6846074097033958	0.68399	0.48230503497	0.47191	0.541827440262	0.44704	T	0.183971	0.53648	T	0.0705571	0.60917	D	-0.136426	0.60426	T	0.959611833095551	0.65581	D	0.880112	0.59716	D	0.37535313	0.58978	0.29575565	0.55608	0.37535313	0.58978	0.29575565	0.55607	-2.602	0.06519	T	.	.	0.226	0.45738	B	.	.	4.907384	0.80710	27.4	0.99937201472321724	0.99661	0.99036	0.90290	D	AEFBI	0.846801	0.76367	D	0.737485343192617	0.82090	7.676984	0.72995708383648	0.84651	8.352356	0.999999824107318	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.5	5.5	0.81386	8.703000	0.91063	11.315000	0.92518	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	19.015	0.92868	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	461.45	80	chr1	229659277	.	G	A	461.45	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-4.008e+00;DP=1854;ExcessHet=0.3300;FS=260.818;InbreedingCoeff=-0.3184;MLEAC=6;MLEAF=0.429;MQ=60.00;MQRankSum=0.00;QD=1.03;ReadPosRankSum=0.874;SOR=10.150	GT:AD:DP:GQ:PL	0/1:106,44:172:53:53,0,2071	4	0	3	14
chr1	230357055	230357055	C	T	exonic	PGBD5	.	nonsynonymous SNV	PGBD5:NM_001258311:exon2:c.G598A:p.A200T,	.	.	429	1057	36	0	0	36	0.0167442	.	.	696566	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.999	D	0.000	D	1.000	D	0.805	L	2.25	T	-1.157	T	0.060	T	0.937	5.497	35	6.03	2.861	5.953	20.557	0.358	.	0.0045	0.00698882	0.0068	0.0008	0.0033	0	0.0065	0.0058	0.0088	0.0205	0.0063259	978	154602	rs41315609	0.0063	0.0063	0.0058	0.0069	0.0208	0.0062	0.0062	0.0200	0.0196	0.0009	0.0029	0.0030	2.519e-05	0.0076	0.0132	0.0058	0.0057	0.0208	0.0052	0.0052	0.0048	0.0056	0.0203	0.0049	0.0048	0.0171	0.0159	0.0011	0.0088	0.0041	0.0017	0.0006	0.0072	0.0136	0.0070	0.0033	0.0203	0.019	0.50132	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	2.25	0.17761	T	-1.97	0.45587	N	0.819	0.81459	-1.1567	0.00839	T	0.060	0.25237	T	10	0.008564383	0.00194	T	.	.	.	0.358	0.67872	.	.	0.198526703765	0.19489	0.6185808216366527	0.61791	1.03234423226	0.75462	0.636188805103	0.58023	T	.	.	.	-0.140888	0.29750	T	0.0292734	0.72232	D	0.0248253129137804	0.01249	T	0.925008	0.72455	D	0.43868607	0.63317	0.5046682	0.71369	0.43868607	0.63318	0.5046682	0.71369	-7.423	0.57066	T	.	.	0.175	0.52102	B	.;.	.;.	4.125597	0.61694	24.4	0.99934615814858752	0.99535	0.98341	0.81803	D	AEFBI	0.851227	0.76807	D	0.541228674228767	0.69549	5.372841	0.552156647955467	0.71547	5.671552	0.999999999999823	0.74766	0.833774	0.99917	0	0.59043	0.45803	0	0.0	0.00061	3	0.613276	0.41899	0	.	.	6.03	6.03	0.97798	6.034000	0.70575	7.554000	0.60334	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.738000	0.35369	0.0:1.0:0.0:0.0	20.557	0.99307	835	0.38313	PiggyBac transposable element-derived protein;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4017.11	33	chr1	230357055	.	C	T	4017.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.04;DP=1007;ExcessHet=0.1072;FS=5.781;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=-1.461e+00;SOR=0.991	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1218	19	0	2	0
chr1	230678952	230678952	C	T	exonic	COG2	.	nonsynonymous SNV	COG2:NM_001145036:exon10:c.C1066T:p.R356W	.	.	431	1085	6	0	0	6	0.00275735	.	.	794606	not_provided|Congenital_disorder_of_glycosylation,_type_IIq|not_specified	MedGen:C3661900|MONDO:MONDO:0054559,MedGen:C4479353,OMIM:617395,Orphanet:435934|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.992	D	0.487	P	0.029	N	0.998	D	2.52	M	3.52	T	-0.669	T	0.181	T	0.51	3.561	18.15	3.06	0.867	1.786	12.749	0.213	0.0385122524623	7.7e-05	.	4.956e-05	0	0	0	0	9.014e-05	0	0	4.53e-05	7	154602	rs200705175	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	0.0001	0.0001	5.978e-05	0.0001	0	7.564e-05	1.873e-05	0.0003	0.0001	0.0002	5.802e-05	6.575e-05	6.568e-05	5.141e-05	8.076e-05	8.821e-05	3.518e-05	2.618e-05	3.762e-05	2.575e-05	7.243e-05	0	6.546e-05	0	0	0	0	8.821e-05	0	0	0.011	0.58626	D	0.082	0.45318	T	0.975	0.58077	D	0.386	0.44011	B	0.028839	0.25543	N	0.429971	0.998428	0.44899	D	2.77	0.80896	M	3.52	0.04905	T	-3.81	0.71882	D	0.612	0.62950	-0.6686	0.61892	T	0.181	0.52767	T	10	0.5218507	0.62688	D	0.038512	0.58269	D	0.213	0.50496	.	.	0.336892272479	0.33291	0.5122040009096595	0.51142	0.43872957691	0.43897	0.35747730732	0.19017	T	0.495744	0.81833	T	-0.262869	0.12567	T	-0.360324	0.38016	T	0.652112305164337	0.38552	D	0.940206	0.77406	D	0.13691837	0.31723	0.14632757	0.34670	0.13691837	0.31723	0.14632757	0.34669	-6.868	0.53063	T	0.4917912686882258	0.56855	0.088	0.15520	B	.;.;.	.;.;.	4.148323	0.62211	24.4	0.99868102475979881	0.94637	0.89017	0.49236	D	AEFBI	0.486604	0.52570	N	0.300363824959683	0.56167	3.781131	0.259958012969278	0.53217	3.491826	0.33508970711538	0.19525	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	6.07	3.06	0.34374	1.826000	0.38730	2.329000	0.32183	0.599000	0.40250	1.000000	0.71638	0.454000	0.24968	0.985000	0.61073	0.1142:0.6294:0.2564:0.0	12.749	0.56672	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1698.11	33	chr1	230678952	.	C	T	1698.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.898;DP=836;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.42;ReadPosRankSum=1.85;SOR=0.646	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1198	19	0	2	0
chr1	230759533	230759533	C	T	exonic	CAPN9	.	nonsynonymous SNV	CAPN9:NM_006615:exon3:c.C305T:p.A102V	.	.	427	1078	16	1	0	18	0.00827967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	1.0	D	0.000	D	0.000	P	4.07	H	1.41	T	-0.715	T	0.011	T	0.89	5.253	33	5.32	2.490	7.486	18.988	0.458	.	0.0004	0.0283546	0.0127	0.0011	0.0045	0.0948	0	0.0006	0.0231	0.0364	0.0116169	1796	154602	rs12562749	0.0050	0.0050	0.0041	0.0058	0.0860	0.0049	0.0048	0.0836	0.0826	0.0009	0.0032	0.0005	0.0860	5.62e-05	0.0037	0.0004	0.0084	0.0314	0.0052	0.0052	0.0045	0.0059	0.0897	0.0049	0.0048	0.0830	0.0803	0.0012	0	0.0022	0	0.0897	0.0002	0.0034	0.0007	0.0043	0.0385	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	2.31193e-13	0.81001	P	3.6	0.93737	H	1.41	0.33412	T	-3.77	0.71397	D	0.335	0.50958	-0.7151	0.59702	T	0.011	0.04369	T	9	0.004550785	0.00094	T	.	.	.	0.458	0.75619	.	.	.	.	0.8073456928734869	0.80689	0.456818619681	0.45336	0.740805983543	0.73091	T	0.541711	0.84321	D	-0.10579	0.35466	T	0.148222	0.80072	D	0.0808720618378624	0.10098	T	0.984801	0.94749	D	0.9138349	0.92655	0.77936894	0.86991	0.9138349	0.92656	0.77936894	0.86991	-12.595	0.87628	D	.	.	0.707	0.78501	P	.;.	.;.	4.177704	0.62865	24.5	0.99914942779407778	0.98309	0.95502	0.64976	D	AEFBCI	0.911984	0.87201	D	1.006661387257	0.95945	14.13258	0.903114292096992	0.95706	13.88581	0.999999999999998	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.32	5.32	0.75377	7.632000	0.82419	7.092000	0.57508	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.508000	0.29198	0.0:1.0:0.0:0.0	18.988	0.92759	929	0.16858	Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	631.98	33	chr1	230759533	.	C	T	631.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.948e+00;DP=755;ExcessHet=0.0000;FS=2.219;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.90;ReadPosRankSum=0.054;SOR=0.767	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1107	20	0	1	0
chr1	230762651	230762651	A	G	splicing	CAPN9	NM_001319676:exon2:c.214-2A>G;NM_016452:exon4:c.403-2A>G;NM_006615:exon4:c.403-2A>G	.	.	.	.	430	1074	17	1	0	19	0.00876788	1.0000	0.94	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000	P	.	.	.	.	.	.	.	.	.	4.383	23.2	5.33	2.013	8.844	15.288	.	.	0.0005	0.0267572	0.0119	0.0011	0.0044	0.0845	0	0.0006	0.0233	0.0365	0.0108472	1677	154602	rs28359631	0.0047	0.0047	0.0039	0.0056	0.0795	0.0047	0.0046	0.0771	0.0762	0.0004	0.0032	0.0005	0.0795	5.619e-05	0.0036	0.0005	0.0069	0.0309	0.0048	0.0048	0.0040	0.0056	0.0827	0.0045	0.0044	0.0762	0.0737	0.0008	0	0.0016	0	0.0827	0.0002	0.0034	0.0007	0.0028	0.0380	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1e-37	0.81001	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0397621	0.45983	T	0.23264	0.84798	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	6.617992	0.95491	35	0.99549252921280917	0.71023	0.97728	0.76704	D	AEFBI	.	.	.	1.1349366255534	0.98732	19.18353	0.982373999307412	0.98257	17.802	0.999999999411889	0.74766	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.057018	0.00518	0	0.971198	0.73451	5.33	5.33	0.75683	8.908000	0.92231	8.413000	0.77131	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	1.0:0.0:0.0:0.0	15.288	0.73545	923	0.18507	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1386.98	34	chr1	230762651	.	A	G	1386.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.51;DP=866;ExcessHet=0.0000;FS=5.999;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.07;ReadPosRankSum=0.390;SOR=1.144	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr1	230767705	230767705	T	C	exonic	CAPN9	.	nonsynonymous SNV	CAPN9:NM_001319676:exon3:c.T512C:p.I171T	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.983	D	0.949	D	0.000	D	1.000	D	2.165	M	2.53	T	-1.133	T	0.050	T	0.349	3.738	18.98	5.43	2.049	7.790	15.477	0.238	.	0.0079	0.00698882	0.0024	0.0246	0.0019	0	0.0002	0.0002	0	0	0.0022768	352	154602	rs28359644	0.0008	0.0008	0.0009	0.0007	0.0239	0.0008	0.0008	0.0225	0.0220	0.0239	0.0024	0	0	1.873e-05	0.0009	0.0001	0.0021	4.644e-05	0.0069	0.0069	0.0070	0.0068	0.0235	0.0066	0.0064	0.0223	0.0218	0.0235	0	0.0036	0	0	0	0	0.0001	0.0105	0	0.0	0.91255	D	0.015	0.62352	D	0.983	0.60381	D	0.938	0.68658	D	0.000002	0.62929	D	0.133261	1	0.81001	D	1.98	0.53716	M	2.53	0.14038	T	-4.73	0.80085	D	0.865	0.86191	-1.1334	0.01627	T	0.050	0.21417	T	10	0.010089964	0.00226	T	.	.	.	0.238	0.54217	.	.	0.338592109245	0.33472	0.8282350852191549	0.82781	0.485656705025	0.47436	0.493134140968	0.37873	T	0.382192	0.74433	T	-0.433334	0.01416	T	-0.376977	0.36076	T	0.0412787322498623	0.03923	T	0.907909	0.75346	D	0.85325307	0.87576	0.7737136	0.86646	0.85325307	0.87578	0.7737136	0.86647	-8.656	0.66999	D	.	.	0.309	0.53709	B	.;.;.	.;.;.	4.221740	0.63864	24.6	0.99761078228566691	0.85091	0.99579	0.97647	D	AEFDBI	0.873049	0.79520	D	0.670579442531295	0.77705	6.726476	0.639778249241017	0.77853	6.759739	0.999987100414471	0.51787	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.43	5.43	0.79006	7.769000	0.84183	5.698000	0.49367	0.665000	0.62972	1.000000	0.71638	0.995000	0.32472	0.403000	0.26849	0.0:0.0:0.0:1.0	15.477	0.75221	923	0.18507	Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1854.98	36	chr1	230767705	.	T	C	1854.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=1056;ExcessHet=0.0000;FS=7.564;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.19;ReadPosRankSum=-5.650e-01;SOR=1.190	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1304	20	0	1	0
chr1	230978734	230978734	-	CAGCAG	exonic	TTC13	.	nonframeshift insertion	TTC13:NM_001122835:exon1:c.96_97insCTGCTG:p.L32_G33insLL	.	.	421	1098	1	0	2	3	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00539137	0.0007	0.0256	0	0	.	0.0010	0	0	0.0013831	36	26028	rs540520221	0.0009	0.0008	0.0009	0.0008	0.0232	0.0008	0.0008	0.0217	0.0211	0.0232	0.0043	0.0002	3.269e-05	0	0.0023	0.0002	0.0033	4.144e-05	0.0073	0.0074	0.0077	0.0069	0.0242	0.0069	0.0068	0.0229	0.0224	0.0242	0	0.0050	0.0003	0	0	0	0.0002	0.0071	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	489.94	33	chr1	230978734	.	C	CCAGCAG	489.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.02;DP=665;ExcessHet=0.0000;FS=6.495;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.15;ReadPosRankSum=0.340;SOR=1.865	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:25,0:25:75:.:.:0,75,779	20	0	1	0
chr1	230979169	230979169	A	T	exonic	ARV1	.	nonsynonymous SNV	ARV1:NM_001346992:exon1:c.A64T:p.T22S	Epileptic encephalopathy, early infantile, 38, Autosomal recessive	.	430	1085	7	0	0	7	0.00321543	.	.	696570	not_provided|not_specified|ARV1-related_disorder	MedGen:C3661900|MedGen:CN169374|MedGen:CN235539	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.25	T	0.001	B	0.001	B	0.913	N	1.000	N	0.55	N	0.86	T	-1.027	T	0.071	T	0.067	1.665	11.53	-1.77	-0.329	0.137	6.521	0.007	0.00580231272722	0.0015	0.000599042	0.0019	0.0006	0.0009	0	0.0041	0.0021	0.0023	0.0026	0.0017141	265	154602	rs143532693	0.0028	0.0028	0.0029	0.0027	0.0032	0.0027	0.0027	0.0030	0.0029	0.0004	0.0009	0.0004	5.06e-05	0.0033	0.0009	0.0031	0.0033	0.0032	0.0019	0.0019	0.0019	0.0020	0.0038	0.0017	0.0017	0.0025	0.0023	0.0005	0	0.0015	0.0003	0.0002	0.0040	0	0.0028	0	0.0038	0.285	0.15251	T	0.34	0.22426	T	0.001	0.07471	B	0.001	0.04355	B	0.913311	0.07429	N	1.046320	1	0.08975	N	0.895	0.22405	L	0.86	0.50459	T	-0.14	0.11008	N	0.195	0.28616	-1.0274	0.21299	T	0.071	0.29034	T	10	0.004591197	0.00096	T	0.005802	0.15072	T	0.007	0.00512	0.141	0.04462	0.366466682447	0.36252	0.30130220554409176	0.30043	0.147303705805	0.16616	0.344745635986	0.17145	T	0.095701	0.44257	T	-0.629059	0.00097	T	-0.680054	0.06981	T	0.00164693369886789	0.00017	T	0.471053	0.13966	T	0.03993164	0.05605	0.05423909	0.09290	0.052566446	0.09824	0.059719935	0.11255	-3.333	0.14166	T	.	.	0.079	0.14614	B	.;.	.;.	0.921576	0.12966	9.472	0.80703248959403262	0.13329	0.10166	0.15747	N	ALL	0.080477	0.16272	N	-1.09087936275055	0.06810	0.3145744	-1.12390244618285	0.07245	0.3517004	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.31	-1.77	0.07551	0.159000	0.16258	0.604000	0.19959	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.067000	0.16453	0.2767:0.0:0.5608:0.1625	6.521	0.21474	830	0.39242	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2147.98	149	chr1	230979169	.	A	T	2147.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=888;ExcessHet=0.0000;FS=3.825;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.42;ReadPosRankSum=1.68;SOR=0.891	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1243	20	0	1	0
chr1	230990117	230990117	G	A	exonic	ARV1	.	nonsynonymous SNV	ARV1:NM_001346992:exon3:c.G302A:p.G101E	Epileptic encephalopathy, early infantile, 38, Autosomal recessive	.	436	1043	41	2	0	45	0.0211168	.	.	707195	ARV1-related_disorder|not_provided	MedGen:CN235539|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	1	T	1.0	D	0.996	D	0.000	D	1.000	D	1.21	L	1.04	T	-1.002	T	0.138	T	0.659	4.890	28.1	6.17	2.941	7.466	20.879	0.256	.	0.0046	0.00519169	0.0056	0.0011	0.0016	0	0.0005	0.0044	0.0066	0.0216	0.0054204	838	154602	rs35764859	0.0068	0.0068	0.0064	0.0072	0.0203	0.0067	0.0067	0.0195	0.0191	0.0012	0.0020	0.0050	7.62e-05	0.0004	0.0126	0.0066	0.0089	0.0203	0.0041	0.0041	0.0043	0.0039	0.0195	0.0038	0.0037	0.0163	0.0151	0.0010	0	0.0033	0.0032	0	0.0003	0.0204	0.0061	0.0038	0.0195	0.377	0.17761	T	0.817	0.39492	T	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.055422	1	0.81001	D	1.75	0.45442	L	1.04	0.40218	T	-2.05	0.53577	N	0.84	0.83576	-1.0017	0.29430	T	0.138	0.45583	T	10	0.012885034	0.00275	T	.	.	.	0.256	0.56694	.	.	0.902235681755	0.90125	0.7012005147172009	0.70061	0.783812259885	0.65410	0.61260843277	0.54685	T	0.132561	0.51226	T	-0.30417	0.08272	T	-0.193439	0.55267	T	0.0165582415434583	0.00418	T	0.930707	0.74322	D	0.6035068	0.72879	0.68881744	0.81694	0.629531	0.74274	0.68881744	0.81694	-9.63	0.71665	D	0.4046614240751881	0.49594	0.487	0.73409	A	.;.	.;.	5.299921	0.88975	29.8	0.99815137079353544	0.89885	0.98673	0.85416	D	AEFBI	0.927170	0.90941	D	0.586677778091351	0.72343	5.790699	0.659699080626773	0.79335	7.060692	0.999999999999997	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	6.17	6.17	0.99707	7.584000	0.81862	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.879	0.99870	801	0.44448	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1799.11	35	chr1	230990117	.	G	A	1799.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.77;DP=806;ExcessHet=0.1072;FS=3.361;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=0.367;SOR=0.439	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	19	0	2	0
chr1	231163725	231163727	GCC	-	exonic	TRIM67	.	nonframeshift deletion	TRIM67:NM_001004342:exon1:c.756_758del:p.P260del,	.	.	279	1230	13	0	0	13	0.00525677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0041	0	0	0	0	0.0038	0	0.0046	0.0002689	7	26028	rs774379585	0.0007	0.0061	0.0006	0.0007	0.0024	0.0006	0.0006	0.0021	0.0020	0.0004	0.0022	0.0008	0.0007	0.0013	0.0006	0.0005	0.0007	0.0024	3.968e-05	9.857e-05	2.585e-05	5.417e-05	0.0006	1.725e-05	1.135e-05	0.0002	9.029e-05	0	0	0	0	0	9.625e-05	0	2.962e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	88.94	45	chr1	231163724	.	AGCC	A	88.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.710e-01;DP=791;ExcessHet=0.0000;FS=1.988;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.17;ReadPosRankSum=1.34;SOR=0.790	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,120,1800	20	0	1	0
chr1	231353206	231353206	A	T	exonic	SPRTN	.	nonsynonymous SNV	SPRTN:NM_032018:exon5:c.A1315T:p.T439S,	Ruijs-Aalfs syndrome, Autosomal recessive	.	428	1062	32	0	0	32	0.0148423	.	.	718789	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.8	T	0.001	B	0.001	B	0.766	N	1.000	N	0.695	N	1.03	T	-1.009	T	0.035	T	0.043	-0.144	3.295	-2.03	-0.452	-0.228	3.690	0.003	.	0.0074	0.00539137	0.0096	0.0020	0.0021	0.0043	0.0091	0.0124	0.0056	0.0115	0.0092366	1428	154602	rs62617126	0.0094	0.0094	0.0092	0.0096	0.0132	0.0093	0.0092	0.0125	0.0123	0.0014	0.0023	0.0180	0.0060	0.0105	0.0043	0.0097	0.0077	0.0132	0.0073	0.0073	0.0071	0.0075	0.0108	0.0069	0.0068	0.0092	0.0090	0.0016	0.0406	0.0048	0.0170	0.0052	0.0102	0.0068	0.0098	0.0066	0.0108	0.488	0.08042	T	0.772	0.04446	T	0.001	0.07471	B	0.001	0.04355	B	0.766452	0.09581	N	0.899833	1	0.08975	N	1.04	0.26193	L	1.03	0.40469	T	0.34	0.03824	N	0.049	0.02088	-1.0088	0.27292	T	0.035	0.14943	T	10	0.0029574037	0.00048	T	.	.	.	0.003	0.00094	0.146	0.04941	0.161926535498	0.15789	0.08748119875092311	0.08681	0.0190438721776	0.01855	0.259954512119	0.04885	T	0.012346	0.10867	T	-0.697465	0.00038	T	-0.763606	0.02984	T	0.000544040714107174	0.00005	T	0.167583	0.01563	T	0.11201208	0.26467	0.024086496	0.00423	0.08545996	0.19824	0.024086496	0.00423	-2.06	0.03416	T	.	.	0.077	0.06250	B	.	.	-0.627884	0.01498	0.094	0.26093237424666493	0.01234	0.14894	0.18640	N	AEFDGBI	0.071097	0.14141	N	-1.38389940019657	0.02788	0.1236344	-1.3986697233453	0.03266	0.1520182	0.99967855002075	0.41644	0.722319	0.85440	0	0.653731	0.59785	0	0.65145	0.50148	0	0.735409	0.98432	0	.	.	5.41	-2.03	0.06959	-0.228000	0.09119	1.030000	0.23473	-0.085000	0.16207	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1954:0.2353:0.453:0.1163	3.690	0.07877	649	0.63102	.	.	.	.	.	rs62617126	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1157.98	101	chr1	231353206	.	A	T	1157.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=918;ExcessHet=0.0000;FS=2.665;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=-1.151e+00;SOR=0.984	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,102,1530	20	0	1	0
chr1	231366427	231366427	C	A	exonic	EGLN1	.	nonsynonymous SNV	EGLN1:NM_022051:exon5:c.G1265T:p.G422V,	Erythrocytosis, familial, 3, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1820925	not_specified|Erythrocytosis,_familial,_3	MedGen:CN169374|MONDO:MONDO:0012353,MedGen:C1853286,OMIM:609820,Orphanet:247511	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.3	T	0.001	B	0.002	B	0.180	N	0.916	D	-1.1	N	-2.19	D	-0.630	T	0.287	T	0.09	1.028	9.197	4.93	1.461	1.468	11.902	0.274	0.0321865065495	.	.	5.769e-05	0	0	0	0	1.499e-05	0	0.0004	4.53e-05	7	154602	rs763596301	2.052e-05	2.052e-05	9.529e-06	3.163e-05	0.0003	1.456e-05	1.264e-05	0.0002	0.0002	0	0	0	0	0	0.0002	1.799e-06	3.312e-05	0.0003	1.316e-05	1.314e-05	1.286e-05	1.347e-05	0.0004	2.19e-06	8.2e-07	7.315e-05	3.038e-05	0	0	0	0	0	0	0	0	0	0.0004	0.203	0.20154	T	0.358	0.17064	T	0.001	0.07471	B	0.002	0.06944	B	0.180058	0.17127	N	0.575234	0.916267	0.36548	D	-1.04	0.01097	N	-2.19	0.86815	D	-1.08	0.28084	N	0.085	0.06190	-0.6304	0.63553	T	0.287	0.65890	T	10	0.0538446	0.05640	T	0.032187	0.54080	D	0.274	0.59007	0.1	0.01484	0.360519921382	0.35659	0.38706289256227255	0.38621	1.409654094	0.85419	0.324708282948	0.14134	T	0.268391	0.64050	T	-0.321216	0.06798	T	-0.394633	0.34009	T	0.0637081428541147	0.07739	T	0.629237	0.24427	T	0.10729315	0.25369	0.112979636	0.27263	0.10729315	0.25369	0.112979636	0.27263	-4.424	0.29880	T	.	.	0.117	0.23605	B	.	.	1.286455	0.16869	12.81	0.79252269184489421	0.12658	0.93541	0.58498	D	AEFBI	0.268511	0.38499	N	-0.501443035610765	0.22033	1.173674	-0.255152766285203	0.29594	1.659269	0.999994929846765	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.84	4.93	0.64394	1.514000	0.35441	1.147000	0.24451	0.596000	0.33519	1.000000	0.71638	0.999000	0.35428	0.396000	0.26692	0.1378:0.7299:0.1324:0.0	11.902	0.51972	661	0.61838	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	958.98	33	chr1	231366427	.	C	A	958.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.047;DP=755;ExcessHet=0.0000;FS=1.046;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.25;ReadPosRankSum=0.800;SOR=0.465	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1148	20	0	1	0
chr1	231694801	231694801	T	C	exonic	DISC1	.	nonsynonymous SNV	DISC1:NM_001012957:exon2:c.T1043C:p.M348T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.131	B	0.032	B	0.048	N	1.000	N	-0.695	N	1.97	T	-1.018	T	0.021	T	0.185	0.205	5.102	4.85	2.032	4.169	11.933	0.058	0.00446686783063	.	.	1.872e-05	0	9.726e-05	0	0	0	0	6.513e-05	1.29e-05	2	154602	rs754929291	6.159e-06	6.156e-06	1.362e-06	1.101e-05	9.281e-05	2.9e-06	2.1e-06	4.581e-05	3.274e-05	0	0	0	0	0	0	8.994e-07	0	9.281e-05	6.565e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.78490	D	0.005	0.92824	D	0.001	0.15093	B	0.006	0.17295	B	0.047681	0.23323	N	0.451324	0.999907	0.19694	N	-0.805	0.01590	N	1.97	0.22067	T	-3.45	0.67589	D	0.157	0.26475	-1.0175	0.24528	T	0.021	0.08870	T	10	0.11249301	0.21102	T	0.004467	0.10969	T	0.058	0.16647	0.31	0.28289	0.358540694251	0.35469	0.13801955944092134	0.13725	0.140512986562	0.15849	0.271621584892	0.06353	T	0.011614	0.55930	T	-0.345766	0.04998	T	-0.530846	0.19202	T	0.178032055861235	0.19110	T	0.706729	0.44001	T	0.17947848	0.39020	0.2997775	0.56012	0.17947848	0.39020	0.2997775	0.56011	-3.291	0.56536	T	.	.	0.253	0.48756	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	2.732156	0.35768	19.98	0.56332895111806169	0.05530	0.96125	0.67647	D	AEFDBI	0.464920	0.51321	N	-0.473915521311834	0.22938	1.228294	-0.28718760893718	0.28520	1.590818	0.999999968756763	0.74766	0.562547	0.31514	0	0.610034	0.51514	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	4.85	4.85	0.62375	4.424000	0.59617	7.260000	0.57957	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.030000	0.13115	0.0:0.0:0.0:1.0	11.933	0.52144	649	0.63102	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1102.98	92	chr1	231694801	.	T	C	1102.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.119e+00;DP=843;ExcessHet=0.0000;FS=1.789;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=1.73;SOR=0.505	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	20	0	1	0
chr1	231767229	231767229	C	T	exonic	DISC1	.	nonsynonymous SNV	DISC1:NM_001164556:exon3:c.C308T:p.T103M	.	.	424	1081	17	0	0	17	0.00780174	.	.	3207149	DISC1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.04	D	0.994	D	0.749	P	0.038	N	0.999	N	1.935	M	2.92	T	-1.104	T	0.057	T	0.407	1.989	12.61	3.74	2.063	1.717	9.070	0.114	0.00896775730547	0.0020	0.00139776	0.0035	0.0004	0.0015	0	0.0041	0.0033	0.0033	0.0091	0.0032406	501	154602	rs28930675	0.0039	0.0039	0.0037	0.0041	0.0093	0.0038	0.0038	0.0088	0.0086	0.0005	0.0020	0.0085	5.038e-05	0.0037	0.0038	0.0037	0.0040	0.0093	0.0029	0.0029	0.0027	0.0030	0.0058	0.0026	0.0026	0.0041	0.0036	0.0005	0.0164	0.0017	0.0078	0	0.0053	0	0.0038	0.0028	0.0058	0.122	0.29029	T	0.149	0.74150	T	0.988	0.62325	D	0.59	0.52893	P	0.037752	0.24364	N	0.423266	0.999871	0.19925	N	1.735	0.44892	L	2.28	0.17271	T	-2.09	0.47683	N	0.334	0.39861	-1.1039	0.03651	T	0.057	0.23980	T	10	0.011221498	0.00246	T	0.008968	0.23631	T	0.114	0.32008	.	.	0.400033932507	0.39614	0.1761544871001625	0.17534	0.545902157338	0.51602	0.40287950635	0.25470	T	0.378576	0.74152	T	-0.491059	0.00641	T	-0.470758	0.25434	T	0.0100088228678786	0.00134	T	0.868313	0.57527	D	0.037602905	0.04853	0.08156865	0.18549	0.037602905	0.04852	0.08156865	0.18548	-4.354	0.37717	T	.	.	0.174	0.38208	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.576273	0.50395	22.9	0.99821693904679432	0.90414	0.47723	0.28047	N	AEFBI	0.103985	0.20818	N	0.0459471302678091	0.43956	2.678572	-0.0864796244338646	0.35948	2.085954	0.0503693159255797	0.14837	0.615465	0.37627	0	0.610034	0.51514	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	3.74	3.74	0.42108	1.725000	0.37696	0.824000	0.21882	0.596000	0.33519	0.457000	0.26620	0.000000	0.08366	0.444000	0.27761	0.0:0.8923:0.0:0.1077	9.070	0.35647	827	0.39843	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1963.98	33	chr1	231767229	.	C	T	1963.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.400e-02;DP=829;ExcessHet=0.0000;FS=1.373;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=0.882;SOR=0.551	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1470	20	0	1	0
chr1	232432377	232432377	C	T	exonic	SIPA1L2	.	nonsynonymous SNV	SIPA1L2:NM_001377488:exon16:c.G4126A:p.G1376R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.883	P	0.151	B	0.142	N	1.000	N	1.1	L	2.76	T	-0.892	T	0.204	T	0.149	0.704	7.753	1.43	0.076	-0.333	6.398	0.019	0.0801955270549	.	0.000199681	0.0001	0	0	0.0003	0	8.991e-05	0	0.0003	0.0001164	18	154602	rs544460997	7.388e-05	7.388e-05	7.487e-05	7.288e-05	0.0008	6.248e-05	5.807e-05	0.0006	0.0005	2.987e-05	0	0	0.0008	1.872e-05	0.0003	4.766e-05	0.0001	0.0002	6.568e-05	6.563e-05	3.856e-05	9.403e-05	0.0010	3.515e-05	2.615e-05	0.0004	0.0002	2.407e-05	0	0	0	0.0010	0	0	4.41e-05	0	0.0002	0.073	0.46513	T	0.505	0.28764	T	0.133	0.48537	B	0.045	0.34210	B	0.142278	0.18249	N	0.589538	1	0.08975	N	1.79	0.46772	L	-1.19	0.78427	T	-0.87	0.23590	N	0.225	0.26354	-0.8918	0.48775	T	0.204	0.56238	T	10	0.029105455	0.01039	T	0.080196	0.73407	D	0.019	0.03383	0.242	0.17524	0.134007934775	0.12933	0.4025703856162316	0.40173	0.396760723216	0.40786	0.309873640537	0.11889	T	0.015522	0.13004	T	-0.325429	0.06464	T	-0.413084	0.31869	T	0.0140719418494636	0.00273	T	0.891911	0.65732	D	0.04984589	0.08915	0.057698965	0.10533	0.04984589	0.08915	0.057698965	0.10533	-4.462	0.30388	T	.	.	0.190	0.44306	B	.;.;.	.;.;.	1.184042	0.15749	12.07	0.9152685912197166	0.20803	0.04066	0.09518	N	AEFBHI	0.070290	0.13948	N	-0.875939874309868	0.11416	0.5508387	-0.916433928624017	0.11707	0.5980437	0.999136308641047	0.38535	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.92	1.43	0.21585	-0.374000	0.07541	-2.963000	0.03187	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.172000	0.21044	0.0:0.4632:0.1208:0.416	6.398	0.20825	952	0.10565	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1508.98	40	chr1	232432377	.	C	T	1508.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.252;DP=864;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=-4.780e-01;SOR=0.696	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1292	20	0	1	0
chr1	232986232	232986232	C	T	exonic	PCNX2	.	nonsynonymous SNV	PCNX2:NM_014801:exon33:c.G6100A:p.G2034S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	1.0	D	1.0	D	0.000	D	1.000	D	2.075	M	2.79	T	-0.936	T	0.154	T	0.478	4.590	25.0	4.77	1.352	7.476	16.485	0.266	0.0279594816213	.	.	4.58e-05	0	0	0	0.0021	0	0	0	1.29e-05	2	154602	rs766004010	8.527e-06	8.893e-06	8.422e-06	8.634e-06	0.0002	4.55e-06	3.59e-06	8.938e-05	6.294e-05	0	2.729e-05	0	0.0002	8.074e-05	0	0	0	0	3.939e-05	3.937e-05	1.285e-05	6.712e-05	4.81e-05	1.714e-05	1.129e-05	7.97e-06	2.98e-06	4.81e-05	0	0	0	0	0.0003	0	1.47e-05	0	0	0.0	0.91255	D	0.564	0.08991	T	1.0	0.90584	D	0.999	0.97372	D	0.000110	0.50451	D	0.132116	0.999957	0.52396	D	2.685	0.78553	M	2.79	0.24841	T	-1.96	0.47683	N	0.684	0.69037	-0.9360	0.43241	T	0.154	0.48412	T	10	0.18673205	0.34151	T	0.027959	0.50703	D	0.266	0.57999	0.249	0.18602	0.683650843934	0.68095	0.5283847047543918	0.52762	0.650214371269	0.58310	0.823736429214	0.85601	D	0.003025	0.02422	T	-0.0211076	0.48696	T	-0.268096	0.48013	T	0.898600935935974	0.55074	D	0.875412	0.59504	D	0.2776126	0.50818	0.3324777	0.59096	0.2776126	0.50818	0.3324777	0.59095	-3.27	0.13353	T	.	.	0.402	0.65749	A	.;.	.;.	4.858353	0.79476	27.1	0.99849432001396754	0.92925	0.95130	0.63548	D	AEFDBCI	0.890400	0.82539	D	0.626911727360111	0.74884	6.209	0.597015693941314	0.74726	6.186145	0.999999964721815	0.74766	0.634777	0.41761	0	0.550933	0.16991	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	5.71	4.77	0.60425	7.557000	0.81197	5.938000	0.51432	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.854000	0.40426	0.0:0.8689:0.1311:0.0	16.485	0.84027	932	0.16191	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1097.98	38	chr1	232986232	.	C	T	1097.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.47;DP=919;ExcessHet=0.0000;FS=3.064;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.84;ReadPosRankSum=0.330;SOR=0.521	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1170	20	0	1	0
chr1	233258733	233258733	C	T	exonic	PCNX2	.	nonsynonymous SNV	PCNX2:NM_014801:exon5:c.G1129A:p.V377I,	.	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.473	P	0.056	B	.	.	1.000	D	0.805	L	-0.07	T	-0.910	T	0.135	T	0.33	2.776	15.24	4.73	2.601	1.545	13.240	0.040	0.0122234303536	0.0002	0.000998403	0.0005	0.0003	8.642e-05	0	0	0.0003	0.0011	0.0026	0.0004916	76	154602	rs200242011	0.0004	0.0004	0.0004	0.0005	0.0027	0.0004	0.0004	0.0024	0.0023	2.987e-05	0	0	0	0	0.0007	0.0004	0.0003	0.0027	0.0003	0.0003	0.0003	0.0003	0.0019	0.0002	0.0002	0.0010	0.0007	9.622e-05	0	0.0003	0	0	0	0	0.0004	0	0.0019	0.173	0.22573	T	0.2	0.27591	T	0.473	0.36591	P	0.056	0.26147	B	.	.	.	.	1	0.81001	D	1.895	0.50365	L	-0.07	0.63738	T	-0.34	0.12661	N	0.24	0.27077	-0.9103	0.46818	T	0.135	0.44914	T	9	0.009449869	0.00213	T	0.012223	0.30597	T	0.040	0.10527	.	.	0.520803792171	0.51724	0.09249744953556223	0.09181	0.191889017422	0.21517	0.483652293682	0.36559	T	0.002555	0.01944	T	-0.382931	0.02985	T	-0.328068	0.41684	T	0.0261129186915027	0.01421	T	0.710029	0.32075	T	0.06018853	0.12321	0.071360685	0.15271	0.06018853	0.12320	0.071360685	0.15271	-1.85	0.02662	T	.	.	0.086	0.10691	B	.	.	2.859455	0.37778	20.6	0.9972119446380846	0.82054	0.87873	0.47565	D	AEFBI	0.052511	0.09379	N	-0.0838857724020712	0.38098	2.22627	0.0152615801131829	0.40422	2.412142	0.993813335549589	0.33367	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.73	4.73	0.59485	1.540000	0.35721	4.764000	0.44733	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.995000	0.73285	0.1588:0.8412:0.0:0.0	13.240	0.59422	899	0.25060	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3435.98	34	chr1	233258733	.	C	T	3435.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.240e-01;DP=925;ExcessHet=0.0000;FS=0.467;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.02;ReadPosRankSum=-4.500e-02;SOR=0.652	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1234	20	0	1	0
chr1	233362251	233362251	C	G	exonic	MAP3K21	.	nonsynonymous SNV	MAP3K21:NM_032435:exon5:c.C1510G:p.R504G,	.	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.998	D	0.975	D	0.000	D	1.000	D	2.14	M	2.55	T	-1.126	T	0.087	T	0.743	3.759	19.09	4.67	2.408	3.702	12.817	0.147	0.0412452770363	7.7e-05	0.000199681	5.77e-05	0	8.64e-05	0	0	4.5e-05	0	0.0002	5.17e-05	8	154602	rs200368585	4.583e-05	4.583e-05	3.675e-05	5.5e-05	0.0001	3.661e-05	3.347e-05	8e-05	6.238e-05	0	2.236e-05	0	0	0	0	4.317e-05	9.935e-05	0.0001	2.626e-05	2.625e-05	5.138e-05	0	6.536e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.536e-05	0	0	0	0	4.41e-05	0	0	0.023	0.78490	D	0.003	0.76473	D	0.993	0.73220	D	0.93	0.73362	D	0.000000	0.84330	D	0.000000	0.999929	0.51308	D	.	.	.	2.55	0.13795	T	-6.42	0.91609	D	0.624	0.73555	-1.1260	0.01983	T	0.087	0.33606	T	10	0.5621877	0.64850	D	0.041245	0.59822	D	0.147	0.38986	.	.	0.47409059586	0.47039	0.49322151124819474	0.49243	2.00863159342	0.93903	0.622916579247	0.56142	T	0.157261	0.49978	T	-0.110354	0.34709	T	-0.193638	0.55248	T	0.823910772800446	0.48064	D	0.935906	0.76011	D	0.7743147	0.82307	0.6805713	0.81231	0.7743147	0.82308	0.6805713	0.81232	-13.105	0.93198	D	.	.	0.473	0.86720	A	.;.	.;.	4.649167	0.74094	26.1	0.99855325831688535	0.93458	0.98152	0.80048	D	AEFDBI	0.786034	0.71624	D	0.559610671190442	0.70670	5.535684	0.495586714096204	0.67696	5.118854	0.999999999877229	0.74766	0.617157	0.39670	1	0.588066	0.40923	0	0.786243	0.99158	0	0.567892	0.33627	0	.	.	4.67	4.67	0.58089	3.909000	0.56076	2.946000	0.35689	0.599000	0.40250	1.000000	0.71638	0.996000	0.32793	0.997000	0.79791	0.1634:0.8366:0.0:0.0	12.817	0.57051	910	0.22284	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1163.98	39	chr1	233362251	.	C	G	1163.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=850;ExcessHet=0.0000;FS=1.379;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.56;ReadPosRankSum=-1.120e-01;SOR=0.573	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1190	20	0	1	0
chr1	234373803	234373803	G	-	exonic	COA6	.	frameshift deletion	COA6:NM_001012985:exon1:c.85delG:p.D29Ifs*17,	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2538.94	36	chr1	234373802	.	TG	T	2538.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.583e+00;DP=973;ExcessHet=0.0000;FS=3.549;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.20;ReadPosRankSum=-1.580e+00;SOR=0.483	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr1	234398495	234398495	A	G	exonic	TARBP1	.	nonsynonymous SNV	TARBP1:NM_005646:exon26:c.T4130C:p.I1377T,	.	.	434	1077	11	0	0	11	0.00508083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.116	B	0.036	B	0.002	N	1.000	N	1.87	L	3.4	T	-0.964	T	0.018	T	0.086	1.187	9.825	4.72	1.034	3.562	9.088	0.119	0.00428299668018	7.7e-05	0.000599042	0.0003	0	0	0	0	0.0003	0.0011	0.0006	0.0002393	37	154602	rs138599154	0.0002	0.0002	0.0001	0.0002	0.0023	0.0001	0.0001	0.0013	0.0011	5.981e-05	0.0001	0.0023	2.524e-05	0	0.0023	7.93e-05	0.0002	0.0007	0.0001	0.0001	0.0001	0.0001	0.0006	8.655e-05	7.248e-05	0.0002	8.375e-05	7.214e-05	0	6.533e-05	0.0003	0.0006	0	0	0.0001	0.0005	0.0002	0.154	0.24277	T	0.201	0.27503	T	0.116	0.26475	B	0.036	0.22909	B	0.002224	0.36970	N	0.271381	1	0.08975	N	1.39	0.34934	L	3.4	0.05642	T	-0.39	0.13611	N	0.084	0.06059	-0.9643	0.38350	T	0.018	0.07282	T	10	0.010417283	0.00232	T	0.004283	0.10373	T	0.119	0.33137	.	.	0.112648838833	0.10856	0.342553738638931	0.34168	0.0460589994829	0.05005	0.352499783039	0.18289	T	0.010785	0.09704	T	-0.555261	0.00271	T	-0.655875	0.08548	T	0.0275808968812889	0.01628	T	0.747925	0.36851	T	0.048386093	0.08426	0.045727223	0.06218	0.048386093	0.08425	0.045727223	0.06217	-3.179	0.12226	T	.	.	0.065	0.02012	B	.	.	1.996617	0.25370	16.74	0.9079720496356436	0.20046	0.65849	0.32876	D	AEFBI	0.084863	0.17202	N	-0.343161810233035	0.27524	1.510799	-0.252375151000784	0.29689	1.66541	0.999992166360724	0.74766	0.732398	0.92422	0	0.685571	0.66316	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.85	4.72	0.59248	2.947000	0.48750	6.029000	0.52897	0.750000	0.87069	0.669000	0.28339	0.722000	0.26360	0.993000	0.69303	0.859:0.0:0.141:0.0	9.088	0.35751	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1496.11	35	chr1	234398495	.	A	G	1496.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.096;DP=812;ExcessHet=0.1072;FS=0.614;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.11;ReadPosRankSum=1.54;SOR=0.598	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1091	19	0	2	0
chr1	234429645	234429645	C	T	exonic	TARBP1	.	stopgain	TARBP1:NM_005646:exon16:c.G2642A:p.W881X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	8.437	40	5.4	2.683	5.634	19.526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.863e-07	6.84e-07	0	1.38e-06	9.008e-07	0	0	.	.	0	0	0	0	0	0	9.008e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.153	0.15749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.549544	0.95746	D	0.551606	0.95683	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	10.041753	0.99528	44	0.99723929621328888	0.82266	0.94962	0.62939	D	AEFDBHCI	0.044259	0.07099	N	0.921006176346967	0.92749	11.60646	0.805710804841035	0.90188	10.29482	0.999999994415681	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	5.686000	0.67874	7.595000	0.61372	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.526	0.95199	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1287.98	33	chr1	234429645	.	C	T	1287.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.653e+00;DP=852;ExcessHet=0.0000;FS=4.123;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.40;ReadPosRankSum=0.910;SOR=0.269	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,105,1575	20	0	1	0
chr1	234467516	234467516	G	A	exonic	TARBP1	.	nonsynonymous SNV	TARBP1:NM_005646:exon4:c.C1234T:p.P412S,	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.966	D	0.598	P	0.195	N	0.951	N	1.78	L	3.36	T	-1.046	T	0.024	T	0.069	2.074	12.89	2.07	0.365	1.249	6.977	0.066	0.00496968607489	.	.	8.533e-06	0	0	0	0	1.521e-05	0	0	6.5e-06	1	154602	rs778901436	3.479e-06	3.42e-06	2.767e-06	4.198e-06	2.582e-05	1.02e-06	7.4e-07	8.5e-07	5.7e-07	0	2.582e-05	0	0	0	0	3.624e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.21066	T	0.096	0.39340	T	0.966	0.56202	D	0.598	0.50679	P	0.194979	0.16748	N	0.624419	0.951061	0.26484	N	2.015	0.55033	M	3.36	0.05918	T	-1.86	0.43524	N	0.068	0.04072	-1.0456	0.15650	T	0.024	0.10284	T	10	0.0977833	0.17634	T	0.00497	0.12535	T	0.066	0.19193	0.477	0.55502	0.156986980423	0.15292	0.11072395071809472	0.11001	0.0420425285974	0.04528	0.265139579773	0.05519	T	0.021763	0.16890	T	-0.384241	0.02928	T	-0.679653	0.07004	T	0.212670280196197	0.21092	T	0.748325	0.36895	T	0.036911704	0.04632	0.050774954	0.08039	0.036911704	0.04631	0.050774954	0.08038	-2.182	0.03954	T	.	.	0.089	0.12037	B	.	.	2.094137	0.26643	17.19	0.98751063589490662	0.45663	0.44056	0.27234	N	AEFBI	0.083960	0.17012	N	-0.163574483008618	0.34658	1.98095	-0.229118242971755	0.30497	1.717679	0.00929920789631073	0.11830	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.07	2.07	0.26004	1.267000	0.32653	1.647000	0.27824	-0.166000	0.11466	0.450000	0.26566	0.092000	0.22550	0.982000	0.59238	0.0693:0.1265:0.6728:0.1314	6.977	0.23861	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1527.98	33	chr1	234467516	.	G	A	1527.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.739;DP=817;ExcessHet=0.0000;FS=5.887;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=-1.050e-01;SOR=1.255	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1194	20	0	1	0
chr1	234608869	234608869	G	C	exonic	IRF2BP2	.	nonsynonymous SNV	IRF2BP2:NM_001077397:exon1:c.C626G:p.A209G	.	.	441	1080	1	0	0	1	0.000462749	.	.	1403978	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.37	T	0.011	B	0.007	B	0.321	U	0.547	D	-0.345	N	1.46	T	-1.041	T	0.040	T	0.11	1.881	12.25	2.5	1.366	6.888	10.669	0.100	0.382243108153	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs531077036	4.198e-05	4.31e-05	3.658e-05	4.773e-05	0.0003	3.213e-05	2.895e-05	5.81e-05	3.498e-05	0.0002	0	0	0	0	0.0003	3.996e-05	0.0001	0	9.882e-05	9.849e-05	5.155e-05	0.0001	0.0003	6.022e-05	4.892e-05	0.0001	8.306e-05	2.409e-05	0	0.0003	0	0	0	0.0068	7.371e-05	0.0009	0	0.288	0.15098	T	0.514	0.10678	T	0.011	0.15914	B	0.007	0.12992	B	0.321468	0.04077	U	1.732920	0.547114	0.32102	D	0.55	0.14455	N	1.46	0.32238	T	-0.5	0.15782	N	0.144	0.14480	-1.0413	0.16921	T	0.040	0.17404	T	10	0.10216743	0.18710	T	0.382243	0.92999	D	0.100	0.28662	0.101	0.01536	0.346768085243	0.34289	0.15976935224882233	0.15897	2.12493175433	0.95057	0.860980629921	0.91256	D	0.009867	0.08954	T	-0.243517	0.14904	T	-0.587572	0.13877	T	0.242280734701884	0.22524	T	0.50185	0.15733	T	0.0923582	0.21664	0.12716946	0.30616	0.0923582	0.21664	0.12716946	0.30615	-3.751	0.20491	T	.	.	0.140	0.30582	B	.;.	.;.	3.415900	0.47403	22.5	0.98170945733388248	0.38856	0.88103	0.47886	D	AEFDBHCI	0.184945	0.31227	N	-0.473405560726205	0.22955	1.229305	-0.350517481868767	0.26493	1.463689	0.999999999999888	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.391439	0.06340	0	0.492483	0.08430	1	.	.	2.5	2.5	0.29355	3.734000	0.54760	10.589000	0.83461	0.531000	0.24825	0.708000	0.28703	1.000000	0.68203	0.605000	0.31514	0.0:0.0:1.0:0.0	10.669	0.44942	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	252.98	37	chr1	234608869	.	G	C	252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.432;DP=667;ExcessHet=0.0000;FS=2.522;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.46;ReadPosRankSum=0.221;SOR=0.525	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,101,1119	20	0	1	0
chr1	235161023	235161023	-	G	exonic	RBM34	.	frameshift insertion	RBM34:NM_001346738:exon2:c.97_98insC:p.Y33Sfs*9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2976.94	34	chr1	235161023	.	T	TG	2976.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=1447;ExcessHet=0.0000;FS=6.030;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.11;ReadPosRankSum=-2.490e-01;SOR=1.082	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr1	235229250	235229250	T	C	exonic	ARID4B	.	nonsynonymous SNV	ARID4B:NM_001206794:exon11:c.A878G:p.D293G	.	.	453	1061	5	3	0	11	0.00515706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.998	D	0.915	D	0.011	N	0.996	D	0	N	-0.46	T	-0.600	T	0.240	T	0.37	2.417	14.04	5.66	2.161	6.560	11.072	0.152	0.0315896028849	0.0016	0.000998403	0.0019	0.0002	0.0002	0	0	0.0017	0.0022	0.0072	0.0018046	279	154602	rs35560967	0.0019	0.0019	0.0017	0.0020	0.0075	0.0018	0.0018	0.0070	0.0068	0.0004	0.0001	0.0028	0	0.0002	0.0047	0.0017	0.0017	0.0075	0.0013	0.0013	0.0014	0.0013	0.0050	0.0012	0.0011	0.0034	0.0029	0.0004	0	0.0007	0.0046	0	0	0	0.0019	0.0005	0.0050	0.294	0.24758	T	0.134	0.57104	T	0.993	0.65571	D	0.787	0.57594	P	0.011283	0.29587	N	0.395109	0.995808	0.42925	D	0.695	0.17993	N	-0.46	0.70014	T	-1.55	0.39503	N	0.549	0.57518	-0.6000	0.64817	T	0.240	0.60797	T	10	0.0061780512	0.00139	T	0.03159	0.53633	D	0.152	0.39956	.	.	0.628742050937	0.62570	0.22462516827859838	0.22377	1.39968210037	0.85170	0.754976212978	0.75182	T	0.385857	0.74716	T	-0.333573	0.05846	T	-0.247366	0.50076	T	0.0331767441150181	0.02500	T	0.819518	0.48627	T	0.11201135	0.26467	0.12589608	0.30327	0.11201135	0.26466	0.12589608	0.30326	-6.332	0.48975	T	.	.	0.189	0.48061	B	.;.;.;.	.;.;.;.	4.210652	0.63609	24.6	0.99023296912905323	0.50634	0.98930	0.88779	D	AEGBI	0.501702	0.53443	D	0.312017167359634	0.56765	3.841774	0.44065217930152	0.64120	4.659869	0.999986242531783	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	6.250000	0.72387	6.226000	0.55175	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0746:0.0:0.9254	11.072	0.47225	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	993.98	39	chr1	235229250	.	T	C	993.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.146;DP=843;ExcessHet=0.0000;FS=3.229;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=-1.658e+00;SOR=0.376	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485	20	0	1	0
chr1	235448743	235448743	G	C	exonic	TBCE	.	nonsynonymous SNV	TBCE:NM_001287802:exon16:c.G1226C:p.C409S	Encephalopathy, progressive, with amyotrophy and optic atrophy, Autosomal recessive;Hypoparathyroidism-retardation-dysmorphism syndrome, Autosomal recessive;Kenny-Caffey syndrome, type 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.02	B	0.008	B	0.049	N	0.719	D	0.69	N	3.27	T	-0.964	T	0.013	T	0.339	-0.086	3.580	2.07	0.280	2.047	7.920	0.062	0.00270424055737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.786	0.04056	T	0.679	0.06128	T	0.001	0.07471	B	0.002	0.06944	B	0.049210	0.23181	N	0.518569	0.719167	0.33599	D	2.205	0.62170	M	3.27	0.06602	T	-2.26	0.50502	N	0.172	0.30461	-0.9644	0.38330	T	0.013	0.04938	T	10	0.07984525	0.12892	T	0.002704	0.05550	T	0.062	0.17934	0.542	0.65446	0.299427821978	0.29548	0.36489755878944125	0.36403	0.261867217747	0.28750	0.369527667761	0.20764	T	0.073994	0.34831	T	-0.173001	0.24783	T	-0.48628	0.23783	T	0.0847438312056983	0.10583	T	0.691131	0.36767	T	0.19127522	0.40748	0.15987286	0.37265	0.19127522	0.40748	0.15987286	0.37264	-5.214	0.43255	T	.	.	0.124	0.37539	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	1.624849	0.20752	14.89	0.69135488810993573	0.08876	0.81618	0.40985	D	AEFDBI	0.274217	0.38945	N	-0.627884795205516	0.18109	0.9375946	-0.500885582182076	0.22130	1.20047	0.00137220405682752	0.08487	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.96	2.07	0.26004	1.865000	0.39117	3.945000	0.40631	0.676000	0.76740	0.497000	0.26932	1.000000	0.68203	0.972000	0.54974	0.1391:0.2458:0.6151:0.0	7.920	0.29000	356	0.85138	Ubiquitin domain;Ubiquitin domain;Ubiquitin domain;Ubiquitin domain;Ubiquitin domain;Ubiquitin domain;Ubiquitin domain;Ubiquitin domain;Ubiquitin domain;Ubiquitin domain;.;Ubiquitin domain;Ubiquitin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	946.98	34	chr1	235448743	.	G	C	946.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.854;DP=846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.66;ReadPosRankSum=0.448;SOR=0.722	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr1	235766255	235766255	G	A	exonic	LYST	.	nonsynonymous SNV	LYST:NM_000081:exon21:c.C5945T:p.T1982I	Chediak-Higashi syndrome, Autosomal recessive	.	5	1515	2	0	0	2	0.000659631	.	.	206776	not_specified|not_provided|Chédiak-Higashi_syndrome|Autoinflammatory_syndrome|LYST-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008963,MedGen:C0007965,OMIM:214500,Orphanet:167|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.36	T	0.001	B	0.004	B	0.000	N	1.000	D	1.87	L	0.03	T	-0.885	T	0.150	T	0.079	2.381	13.92	4.0	1.189	5.474	13.520	0.181	.	0.0083	0.00159744	0.0063	0.0029	0.0031	0	0.0029	0.0099	0.0056	0.0005	0.0063324	979	154602	rs146591126	0.0098	0.0099	0.0101	0.0096	0.0119	0.0097	0.0096	0.0117	0.0117	0.0015	0.0031	0.0022	0	0.0035	0.0007	0.0119	0.0096	0.0007	0.0064	0.0064	0.0073	0.0055	0.0113	0.0061	0.0059	0.0106	0.0103	0.0026	0	0.0031	0.0026	0	0.0029	0	0.0113	0.0052	0.0008	0.169	0.22920	T	0.017	0.60337	D	0.001	0.07471	B	0.004	0.10090	B	0.000163	0.48594	N	0.211588	0.565398	0.81001	D	2.395	0.69210	M	0.03	0.62183	T	-3.07	0.63207	D	0.18	0.19459	-0.8854	0.49324	T	0.150	0.47787	T	10	0.0058999956	0.00132	T	.	.	.	0.181	0.45247	.	.	0.417430616677	0.41357	0.354334555659533	0.35347	.	.	0.459893524647	0.33296	T	0.204898	0.56379	T	-0.480932	0.00730	T	-0.453214	0.27341	T	0.0296688838718382	0.01939	T	0.765223	0.39255	T	0.16842943	0.37300	0.15065254	0.35520	0.16842943	0.37300	0.15065254	0.35520	-3.915	0.22527	T	0.5306565262063543	0.60156	0.105	0.19114	B	.	.	1.861327	0.23646	16.10	0.99415267122541873	0.63501	0.96666	0.70295	D	AEFBI	0.634336	0.61425	D	-0.0925283932002588	0.37718	2.198576	0.0407524702412566	0.41628	2.504072	0.902968036728839	0.26140	0.638212	0.43195	0	0.588066	0.40923	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	4.91	4.0	0.45673	5.560000	0.67036	3.959000	0.40733	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.824000	0.38829	0.0763:0.0:0.9237:0.0	13.520	0.61019	851	0.35303	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	699.98	35	chr1	235766255	.	G	A	699.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.709;DP=738;ExcessHet=0.0000;FS=4.084;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.00;ReadPosRankSum=1.66;SOR=1.445	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1162	20	0	1	0
chr1	235791906	235791906	G	A	exonic	LYST	.	nonsynonymous SNV	LYST:NM_000081:exon12:c.C4336T:p.R1446W	Chediak-Higashi syndrome, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	941796	Spastic_ataxia|not_provided|Chédiak-Higashi_syndrome	Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226|MedGen:C3661900|MONDO:MONDO:0008963,MedGen:C0007965,OMIM:214500,Orphanet:167	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.995	D	0.528	P	0.812	N	1.000	D	0.69	N	0.05	T	-0.803	T	0.206	T	0.246	3.836	19.48	4.82	1.511	4.780	14.424	0.147	0.030860826904	.	.	7.415e-05	0	0.0002	0	0	0.0001	0	0	6.47e-05	10	154602	rs200276917	6.499e-05	6.498e-05	6.534e-05	6.463e-05	0.0014	5.428e-05	5.042e-05	0.0007	0.0005	2.987e-05	0.0001	0	0	0	0.0014	6.385e-05	0.0001	2.319e-05	9.85e-05	9.843e-05	8.996e-05	0.0001	0.0002	6.003e-05	4.877e-05	6.806e-05	5.089e-05	2.406e-05	0	0.0002	0	0	0	0	0.0001	0.0009	0	0.028	0.46129	D	0.034	0.52727	D	0.992	0.64738	D	0.513	0.47989	P	0.811968	0.09244	N	0.930000	1	0.81001	D	1.61	0.41143	L	0.05	0.61923	T	-2.55	0.55181	D	0.411	0.45142	-0.8033	0.54950	T	0.206	0.56444	T	10	0.3091087	0.48401	T	0.030861	0.53076	D	0.147	0.38986	.	.	0.34936206512	0.34543	0.48117319188314295	0.48037	.	.	0.207420796156	0.00706	T	0.229094	0.59482	T	-0.26321	0.12526	T	-0.379191	0.35816	T	0.170652747154236	0.18624	T	0.954005	0.82493	D	0.114483014	0.27025	0.10930218	0.26342	0.114483014	0.27025	0.10930218	0.26341	-5.467	0.41559	T	0.11129387365848188	0.09500	0.099	0.16626	B	.	.	4.011013	0.59175	24.1	0.99922044094809404	0.98852	0.95754	0.66012	D	AEFDBI	0.776058	0.70928	D	0.328953870541399	0.57639	3.932099	0.381663525327703	0.60434	4.231015	0.821026398408441	0.24524	0.487112	0.14033	0	0.546412	0.12157	0	0.573888	0.23631	0	0.491896	0.07777	0	.	.	5.76	4.82	0.61641	4.854000	0.62617	3.362000	0.37867	0.676000	0.76740	1.000000	0.71638	0.992000	0.31684	0.865000	0.41091	0.0:0.0:0.8479:0.1521	14.424	0.66775	840	0.37365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1445.98	33	chr1	235791906	.	G	A	1445.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.71;DP=797;ExcessHet=0.0000;FS=3.681;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.18;ReadPosRankSum=-1.710e-01;SOR=0.763	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1128	20	0	1	0
chr1	235808528	235808528	G	A	exonic	LYST	.	nonsynonymous SNV	LYST:NM_000081:exon5:c.C2290T:p.H764Y	Chediak-Higashi syndrome, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.279	U	0.996	N	-1.04	N	1.36	T	-0.990	T	0.070	T	0.077	-0.366	2.275	2.5	0.803	5.204	7.132	0.201	0.00782293206445	.	.	8.249e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs765210466	6.842e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.279260	0.14976	U	0.536654	0.999151	0.23000	N	0.57	0.15267	N	-0.29	0.67712	T	-0.1	0.08495	N	0.172	0.26717	-0.9902	0.32551	T	0.070	0.28609	T	10	0.047809064	0.04148	T	0.007823	0.20747	T	0.201	0.48592	0.372	0.38340	0.334885890373	0.33091	0.060677835654987446	0.06007	0.0895148867953	0.10113	0.276043534279	0.06946	T	0.03607	0.23962	T	-0.347631	0.04877	T	-0.555596	0.16792	T	0.0190290817666094	0.00612	T	0.717528	0.33902	T	0.029255295	0.02391	0.044867843	0.05910	0.029255295	0.02390	0.044867843	0.05910	-4.303	0.28219	T	0.04382909782748321	0.00503	0.070	0.04436	B	.;.	.;.	1.170382	0.15598	11.97	0.25656443149406671	0.01193	0.74684	0.36541	D	AEFDBHCI	0.197902	0.32479	N	-0.867488518707189	0.11623	0.5618757	-0.700773581987136	0.16941	0.8985693	0.479145507836594	0.20771	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.8	2.5	0.29355	5.235000	0.65175	4.965000	0.46365	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.068000	0.16518	0.4408:0.0:0.5592:0.0	7.132	0.24686	830	0.39242	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1710.98	35	chr1	235808528	.	G	A	1710.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.910e-01;DP=918;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=-2.100e-02;SOR=0.717	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1280	20	0	1	0
chr1	236024207	236024207	G	A	exonic	NID1	.	nonsynonymous SNV	NID1:NM_002508:exon9:c.C1991T:p.S664F,	.	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.985	D	0.781	P	0.001	N	0.955	D	1.39	L	-1.8	D	0.646	D	0.687	D	0.467	4.032	20.7	4.82	1.425	5.927	14.476	0.470	0.276681282019	.	.	5.033e-05	9.932e-05	0	0	0	0	0.0023	0.0002	3.88e-05	6	154602	rs781704791	2.052e-05	2.052e-05	8.167e-06	3.3e-05	0.0002	1.456e-05	1.264e-05	0.0002	0.0001	2.987e-05	0	0	0	0	0.0002	2.698e-06	8.279e-05	0.0002	1.313e-05	1.313e-05	0	2.688e-05	2.411e-05	2.18e-06	8.2e-07	.	.	2.411e-05	0	0	0	0	0	0	1.47e-05	0	0	0.018	0.53900	D	0.023	0.60337	D	0.023	0.61118	B	0.023	0.57337	B	0.000874	0.41335	N	0.215575	0.955399	0.37923	D	1.975	0.53506	M	-2.45	0.88847	D	-3.43	0.67941	D	0.502	0.56231	0.646	0.92492	D	0.687	0.89187	D	10	0.41427	0.56434	T	0.276681	0.90081	D	0.470	0.76421	0.457	0.52265	0.912266846232	0.91139	0.5019394987227779	0.50115	0.788420541675	0.65640	0.472366809845	0.35005	T	0.429163	0.77805	T	-0.0792145	0.39841	T	-0.0721276	0.65474	T	0.591818153858185	0.36078	D	0.758424	0.38228	T	0.21796075	0.44291	0.22134997	0.46942	0.21796075	0.44291	0.22134997	0.46941	-9.03	0.75630	D	0.1697063097645595	0.21295	0.179	0.39012	B	.;.	.;.	4.611544	0.73136	25.9	0.99816744225151433	0.89973	0.98783	0.86796	D	AEFDBI	0.869853	0.79056	D	0.278257327753029	0.55049	3.669197	0.367352025696093	0.59559	4.13487	0.999944501238077	0.47345	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.73	4.82	0.61641	4.976000	0.63501	6.632000	0.56155	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0704:0.0:0.9296:0.0	14.476	0.67125	469	0.78175	.;G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	751.98	53	chr1	236024207	.	G	A	751.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.267;DP=787;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.19;ReadPosRankSum=-2.059e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1139	20	0	1	0
chr1	236025962	236025962	C	T	exonic	NID1	.	nonsynonymous SNV	NID1:NM_002508:exon8:c.G1918A:p.V640I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.762	P	0.000	D	1.000	D	1.79	L	1.81	T	-0.983	T	0.120	T	0.362	4.002	20.5	5.02	2.600	7.213	18.524	0.149	0.00617517277547	0.0002	.	3.296e-05	0.0002	0	0	0	0	0	0.0001	4.53e-05	7	154602	rs146774932	3.831e-05	3.831e-05	3.812e-05	3.85e-05	5.974e-05	3.026e-05	2.719e-05	3.343e-05	2.956e-05	5.974e-05	0	0	5.038e-05	0	0	4.317e-05	3.311e-05	2.319e-05	2.676e-05	2.642e-05	0	5.48e-05	9.849e-05	8.25e-06	5.22e-06	3.295e-05	1.946e-05	9.849e-05	0	0	0	0	0	0	0	0	0	0.008	0.58626	D	0.212	0.31629	T	0.999	0.77913	D	0.762	0.56524	P	0.000001	0.84330	D	0.054431	0.999915	0.51042	D	2.15	0.60148	M	1.81	0.25182	T	-0.96	0.25551	N	0.396	0.46086	-0.9829	0.34328	T	0.120	0.41886	T	10	0.32576776	0.49883	T	0.006175	0.16170	T	0.149	0.39377	.	.	0.41921206133	0.41539	0.19803181345822818	0.19720	0.259823969482	0.28543	0.576422691345	0.49582	T	0.102095	0.40949	T	-0.214851	0.18700	T	-0.364867	0.37487	T	0.46420830488205	0.31319	T	0.824218	0.63001	T	0.18883595	0.40400	0.14476198	0.34357	0.18883595	0.40400	0.14476198	0.34356	-8.615	0.66191	D	0.5477912061183626	0.61671	0.164	0.36633	B	.;.	.;.	4.239142	0.64256	24.7	0.99835567958628368	0.91628	0.98825	0.87349	D	AEFDBI	0.903426	0.85249	D	0.605780415660423	0.73540	5.982756	0.631413978566983	0.77233	6.640079	0.999999999932554	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	5.755000	0.68406	7.520000	0.59748	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:1.0:0.0:0.0	18.524	0.90918	469	0.78175	.;G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1096.98	125	chr1	236025962	.	C	T	1096.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.517;DP=817;ExcessHet=0.0000;FS=0.671;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.78;ReadPosRankSum=-1.962e+00;SOR=0.821	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1307	20	0	1	0
chr1	236032500	236032500	C	T	exonic	NID1	.	nonsynonymous SNV	NID1:NM_002508:exon6:c.G1438A:p.V480I,	.	.	427	1094	1	0	0	1	0.00045683	.	.	2438287	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.46	T	0.029	B	0.078	B	0.044	N	1.000	N	0.04	N	1.83	T	-1.013	T	0.024	T	0.043	0.943	8.843	-0.5	-0.086	-0.012	2.904	0.042	0.0121290535012	7.7e-05	.	3.295e-05	9.612e-05	0	0	0	2.997e-05	0	6.056e-05	2.59e-05	4	154602	rs141367396	1.505e-05	1.505e-05	1.77e-05	1.238e-05	0.0005	9.85e-06	8.41e-06	0.0001	7.544e-05	0.0001	4.472e-05	0	0	0	0.0005	8.993e-06	3.311e-05	1.159e-05	1.314e-05	1.313e-05	2.57e-05	0	6.543e-05	2.18e-06	8.2e-07	.	.	0	0	6.543e-05	0	0	0	0	1.47e-05	0	0	0.061	0.37118	T	0.688	0.05958	T	0.0	0.19866	B	0.002	0.28627	B	0.044315	0.23651	N	0.450948	1	0.08975	N	1.005	0.25186	L	1.83	0.24841	T	-0.5	0.16393	N	0.111	0.09772	-1.0128	0.26038	T	0.024	0.10058	T	10	0.17090753	0.31780	T	0.012129	0.30425	T	0.042	0.11227	.	.	0.151104730317	0.14643	0.1883839093394412	0.18756	0.178288388966	0.20060	0.275155842304	0.06827	T	0.047628	0.27779	T	-0.483835	0.00703	T	-0.7358	0.04070	T	0.0160827897489071	0.00386	T	0.687331	0.29630	T	0.017428745	0.00272	0.021922024	0.00229	0.017428745	0.00272	0.021922024	0.00229	-4.269	0.33549	T	0.13688126116394922	0.15010	0.071	0.04041	B	.;.	.;.	0.491608	0.08608	5.377	0.94191179102720435	0.24419	0.08153	0.14117	N	AEFBI	0.106967	0.21326	N	-1.19169790507317	0.05125	0.2328921	-1.15059262477274	0.06757	0.3263488	9.51350585815072E-5	0.04910	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.87	-0.5	0.11412	0.009000	0.13117	-1.317000	0.05732	-0.148000	0.12190	0.003000	0.16062	0.000000	0.08366	0.337000	0.25363	0.1542:0.5358:0.1395:0.1705	2.904	0.05364	475	0.77788	.;G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1301.98	35	chr1	236032500	.	C	T	1301.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.330e-01;DP=791;ExcessHet=0.0000;FS=1.686;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.85;ReadPosRankSum=0.657;SOR=0.924	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,985	20	0	1	0
chr1	236048737	236048737	C	T	exonic	NID1	.	nonsynonymous SNV	NID1:NM_002508:exon2:c.G478A:p.V160M,	.	.	426	1094	2	0	0	2	0.000913242	.	.	718817	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.06	T	0.804	P	0.272	B	0.025	N	0.962	D	1.93	M	1.82	T	-1.093	T	0.015	T	0.067	1.400	10.62	0.717	0.239	1.281	10.309	0.075	.	0.0046	0.00658946	0.0016	0.0163	0.0009	0	0	0.0003	0.0034	6.106e-05	0.0016753	259	154602	rs111493675	0.0007	0.0008	0.0008	0.0007	0.0174	0.0007	0.0007	0.0162	0.0158	0.0174	0.0011	0	0	1.874e-05	0.0053	0.0003	0.0016	0.0001	0.0048	0.0048	0.0048	0.0047	0.0154	0.0045	0.0044	0.0144	0.0140	0.0154	0	0.0024	0	0	0	0.0170	0.0004	0.0085	0	0.085	0.32769	T	0.086	0.40909	T	0.804	0.45171	P	0.272	0.39956	B	0.024640	0.26229	N	0.433062	0.961688	0.38249	D	2.78	0.81115	M	1.82	0.25018	T	-1.96	0.47683	N	0.325	0.36569	-1.0934	0.04989	T	0.015	0.06090	T	10	0.0074703097	0.00170	T	.	.	.	0.075	0.21907	.	.	0.288727942641	0.28479	0.7334363856564982	0.73288	0.257231272302	0.28296	0.392056941986	0.23959	T	0.225721	0.59053	T	-0.594098	0.00158	T	-0.612531	0.11781	T	0.0208649300015993	0.00787	T	0.780422	0.41514	T	0.04031901	0.05732	0.06409417	0.12796	0.0361578	0.04393	0.06920216	0.14551	-6.373	0.50302	T	0.1733430893789255	0.21956	0.349	0.56520	A	.;.	.;.	1.491097	0.19183	14.13	0.97222912284562468	0.32910	0.82837	0.42012	D	AEFDBI	0.186638	0.31394	N	-0.450061785569921	0.23737	1.276853	-0.485817878851585	0.22544	1.22497	0.00211785670443547	0.09166	0.719381	0.83141	0	0.633656	0.55848	0	0.709663	0.75317	0	0.733575	0.97253	0	.	.	4.81	0.717	0.17352	1.461000	0.34866	0.351000	0.17477	-0.861000	0.02628	0.771000	0.29368	0.023000	0.20922	0.595000	0.31264	0.0:0.7204:0.0:0.2796	10.309	0.42879	506	0.75555	.;NIDO domain|NIDO domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	977.98	35	chr1	236048737	.	C	T	977.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.352;DP=801;ExcessHet=0.0000;FS=3.857;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.31;ReadPosRankSum=-4.220e-01;SOR=1.112	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1306	20	0	1	0
chr1	236595551	236595551	T	C	exonic	HEATR1	.	nonsynonymous SNV	HEATR1:NM_018072:exon8:c.A1079G:p.H360R,	.	.	428	1081	13	0	0	13	0.00597701	.	.	732292	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.59	T	0.001	B	0.001	B	0.070	N	1.000	N	0.55	N	3.6	T	-1.033	T	0.114	T	0.075	-1.034	0.214	2.66	0.390	0.229	9.088	0.013	.	0.0023	0.00459265	0.0047	0.0007	0.0010	0.0005	0.0076	0.0043	0.0078	0.0121	0.0043078	666	154602	rs149968331	0.0038	0.0039	0.0036	0.0041	0.0103	0.0038	0.0037	0.0098	0.0095	0.0005	0.0008	0.0012	0.0003	0.0065	0.0038	0.0036	0.0038	0.0103	0.0031	0.0031	0.0030	0.0032	0.0116	0.0029	0.0028	0.0092	0.0083	0.0006	0	0.0007	0.0009	0.0002	0.0061	0	0.0045	0.0024	0.0116	0.522	0.07211	T	0.724	0.05274	T	0.001	0.07471	B	0.001	0.04355	B	0.069711	0.21588	N	0.515771	1	0.08975	N	1.355	0.33814	L	3.6	0.65006	T	-0.03	0.07444	N	0.054	0.06322	-1.0331	0.19459	T	0.114	0.40536	T	10	0.0029285252	0.00047	T	.	.	.	0.013	0.01715	.	.	0.354648800996	0.35079	0.17325651060770392	0.17245	0.114739544622	0.12943	0.277621328831	0.07163	T	0.003	0.02196	T	-0.568947	0.00225	T	-0.580634	0.14487	T	0.00147879802912921	0.00015	T	0.573543	0.20808	T	0.019498333	0.00482	0.03531078	0.02758	0.019498333	0.00482	0.03531078	0.02758	-4.136	0.25819	T	.	.	0.059	0.01075	B	.;.	.;.	0.416863	0.07875	4.577	0.23157972507023758	0.00966	0.10015	0.15635	N	AEFBI	0.039491	0.05742	N	-0.888746877124659	0.11109	0.5343691	-0.823336834505006	0.13930	0.725281	0.143877173613143	0.17323	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.98	2.66	0.30672	0.196000	0.16979	-0.152000	0.11409	0.609000	0.47794	0.000000	0.06391	0.610000	0.25763	0.947000	0.49155	0.0:0.1502:0.0:0.8498	9.088	0.35757	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1851.11	34	chr1	236595551	.	T	C	1851.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.620e-01;DP=798;ExcessHet=0.1072;FS=0.634;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.51;ReadPosRankSum=0.953;SOR=0.796	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1240	19	0	2	0
chr1	237364370	237364370	A	C	exonic	RYR2	.	nonsynonymous SNV	RYR2:NM_001035:exon5:c.A307C:p.K103Q,	Arrhythmogenic right ventricular dysplasia 2, Autosomal dominant;Ventricular tachycardia, catecholaminergic polymorphic, 1, Autosomal dominant	.	.	.	.	.	.	.	.	0.0003	0.03	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.642	P	0.173	B	0.861	N	1.000	D	0	N	-4.85	D	0.223	D	0.778	D	0.407	1.169	9.757	4.29	0.998	5.728	9.158	0.465	0.127560290724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.24955	T	.	.	.	0.642	0.40458	P	0.173	0.35463	B	0.860918	0.08895	N	0.915161	0.856043	0.35304	D	-0.345	0.03330	N	-4.85	0.98245	D	-0.33	0.12472	N	0.586	0.60664	0.223	0.86291	D	0.778	0.92453	D	10	0.6481165	0.69444	D	0.12756	0.80938	D	0.465	0.76089	0.478	0.55663	0.847498209305	0.84603	0.18006924792221943	0.17925	0.460280711038	0.45581	0.740673542023	0.73072	T	0.58382	0.86413	D	0.136913	0.68029	D	-0.0411104	0.67626	D	0.383204340934753	0.28305	T	0.578742	0.20864	T	0.1087952	0.25724	0.07943429	0.17883	0.1087952	0.25723	0.07943429	0.17883	-3.153	0.11915	T	.	.	0.147	0.32541	B	.	.	3.865364	0.56078	23.7	0.88358058821387164	0.17914	0.96105	0.67556	D	AEFBI	0.761097	0.69891	D	-0.0552651680645291	0.39368	2.32041	0.0978444201382945	0.44440	2.725756	5.7706330542363E-4	0.07363	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.42	4.29	0.50359	5.230000	0.65149	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.9153:0.0:0.0847:0.0	9.158	0.36166	975	0.05339	Inositol 1,4,5-trisphosphate/ryanodine receptor	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	797.98	33	chr1	237364370	.	A	C	797.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=764;ExcessHet=0.0000;FS=0.837;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.39;ReadPosRankSum=-9.380e-01;SOR=0.806	GT:AD:DP:GQ:PL	0/1:50,35:85:99:812,0,1207	20	0	1	0
chr1	240207469	240207469	T	G	exonic	FMN2	.	nonsynonymous SNV	FMN2:NM_020066:exon5:c.T2657G:p.M886R	Mental retardation, autosomal recessive 47, Autosomal recessive	.	388	1127	7	0	0	7	0.00309598	.	.	439121	not_provided|FMN2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0	B	0.001	B	0.674	N	1.000	N	0.345	N	1.84	T	-0.985	T	0.015	T	0.321	-1.180	0.083	-0.303	-0.171	-0.400	5.343	0.015	.	0.0055	0.00279553	0.0063	0.0011	0.0022	0	0.0254	0.0078	0.0088	0.0016	0.0057955	896	154602	rs146874723	0.0067	0.0067	0.0068	0.0066	0.0070	0.0066	0.0065	0.0069	0.0068	0.0010	0.0018	0.0006	0	0.0239	0.0007	0.0070	0.0066	0.0023	0.0054	0.0054	0.0052	0.0056	0.0071	0.0051	0.0049	0.0066	0.0064	0.0009	0	0.0013	0.0012	0.0002	0.0240	0	0.0071	0.0029	0.0013	0.01	0.56456	D	0.401	0.14961	T	0.0	0.02946	B	0.001	0.04355	B	0.673731	0.10318	N	0.837570	1	0.08975	N	1.61	0.41143	L	1.84	0.24656	T	-1.01	0.26639	N	0.325	0.36569	-0.9846	0.33927	T	0.015	0.06042	T	9	0.0032209456	0.00055	T	.	.	.	0.015	0.02232	.	.	0.332276917938	0.32835	0.2759338393233707	0.27506	0.141650727952	0.15964	0.40539598465	0.25819	T	0.069594	0.33748	T	-0.530123	0.00383	T	-0.527012	0.19587	T	0.0050111453479846	0.00054	T	0.285271	0.05070	T	0.40227765	0.60890	0.23304828	0.48482	0.40227765	0.60891	0.23304828	0.48481	-5.549	0.42324	T	.	.	0.129	0.27702	B	.	.	0.601432	0.09701	6.469	0.39282231865970124	0.02701	0.08145	0.14109	N	AEFDBI	0.083509	0.16918	N	-1.32827365909834	0.03355	0.1497498	-1.36155289546292	0.03672	0.1717486	0.0124711357128256	0.12332	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	3.64	-0.303	0.12158	-0.247000	0.08884	-0.938000	0.06858	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.857000	0.40602	0.0:0.099:0.3407:0.5603	5.343	0.15297	976	0.04745	Formin, FH2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1604.98	34	chr1	240207469	.	T	G	1604.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.68;DP=1138;ExcessHet=0.0000;FS=0.665;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=0.087;SOR=0.792	GT:AD:DP:GQ:PL	0/0:112,0:112:99:0,120,1800	20	0	1	0
chr1	240207634	240207634	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	1	144	3	1	77	82	0.0170648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	10864.06	96	chr1	240207634	.	G	C,*	10864.06	.	AC=9,1;AF=0.225,0.025;AN=40;BaseQRankSum=0.439;DP=1592;ExcessHet=1.5138;FS=0.581;InbreedingCoeff=-0.0794;MLEAC=9,1;MLEAF=0.225,0.025;MQ=59.94;MQRankSum=0.00;QD=12.25;ReadPosRankSum=-1.210e-01;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,48,0:122:99:0|1:240207634_G_C:1697,0,2921,1059,3072,4053:240207634	11	1	7	1
chr1	240207641	240207641	T	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	570	612	17	0	323	340	0.0136986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	12956.77	99	chr1	240207641	.	T	C,*	12956.77	.	AC=10,2;AF=0.238,0.048;AN=42;BaseQRankSum=0.528;DP=1591;ExcessHet=3.2961;FS=0.558;InbreedingCoeff=-0.1667;MLEAC=10,2;MLEAF=0.238,0.048;MQ=59.90;MQRankSum=0.00;QD=12.64;ReadPosRankSum=0.299;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,48,0:120:99:0|1:240207634_G_C:1706,0,2878,1063,3026,4025:240207634	10	1	8	0
chr1	240207647	240207647	-	CCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT	exonic	FMN2	.	nonframeshift insertion	FMN2:NM_020066:exon5:c.2835_2836insCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT:p.P946_P947insLLPGAGIPLPP	Mental retardation, autosomal recessive 47, Autosomal recessive	.	34	191	0	1	0	2	0.00520833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	.	0.0017	0.0041	0.0016	0.0018	0.0052	0.0016	0.0016	0.0046	0.0043	0.0015	0.0015	0.0070	0.0052	0.0020	0.0034	0.0014	0.0030	0.0011	0.0026	0.0080	0.0026	0.0026	0.0038	0.0022	0.0021	0.0028	0.0026	0.0015	0.0027	0.0038	0.0037	0.0015	0.0003	0	0.0034	0.0015	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	530.07	66	chr1	240207647	.	G	GCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT	530.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.660e-01;DP=1545;ExcessHet=0.1072;FS=3.693;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.24;MQRankSum=0.00;QD=6.54;ReadPosRankSum=-2.083e+00;SOR=1.072	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:122,0:122:99:.:.:0,120,1800	19	0	2	0
chr1	240207702	240207702	A	G	exonic	FMN2	.	nonsynonymous SNV	FMN2:NM_020066:exon5:c.A2890G:p.I964V	Mental retardation, autosomal recessive 47, Autosomal recessive	.	502	1018	2	0	0	2	0.000981354	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	B	0.008	B	.	.	1.000	N	1.525	L	0.25	T	-0.991	T	0.134	T	0.152	0.413	6.241	0.052	0.162	-0.104	7.364	0.020	0.045169975221	.	.	0.0009	0.0001	0.0003	0	0.0006	0.0008	0.0012	0.0029	0.0006792	105	154602	rs776640303	0.0003	0.0007	0.0002	0.0004	0.0017	0.0003	0.0003	0.0015	0.0014	6.978e-05	9.794e-05	0.0003	0	0.0004	0.0003	0.0002	0.0003	0.0017	0.0004	0.0008	0.0003	0.0005	0.0031	0.0003	0.0003	0.0016	0.0012	0	0	0	0	0	0.0008	0	0.0005	0	0.0031	0.615	0.05388	T	0.551	0.09393	T	0.002	0.09854	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	1.3	0.32576	L	0.25	0.59449	T	0.05	0.06369	N	0.13	0.12484	-0.9911	0.32321	T	0.134	0.44759	T	8	0.009694606	0.00218	T	0.04517	0.61848	D	0.020	0.03691	.	.	0.557001845264	0.55359	0.09877377751566296	0.09808	0.0764687173322	0.08578	0.632085978985	0.57441	T	0.043795	0.26613	T	-0.192238	0.21931	T	-0.513913	0.20913	T	0.016704989235439	0.00428	T	0.319168	0.06405	T	0.03611048	0.04378	0.028300984	0.01054	0.03611048	0.04378	0.028300984	0.01054	-9.421	0.70367	D	.	.	0.174	0.38117	B	.	.	0.607304	0.09760	6.525	0.2992420813018698	0.01611	0.01614	0.05222	N	AEFDBI	0.039301	0.05688	N	-1.14381891665177	0.05882	0.2693365	-1.2162111483275	0.05648	0.2697381	0.0111675618054455	0.12141	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	3.69	0.052	0.13617	-0.403000	0.07275	0.018000	0.13546	0.330000	0.19542	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.7102:0.0:0.2898:0.0	7.364	0.25933	976	0.04745	Formin Homology 1|Formin, FH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	206.98	87	chr1	240207702	.	A	G	206.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=1422;ExcessHet=0.0000;FS=1.331;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.08;MQRankSum=-1.820e-01;QD=2.72;ReadPosRankSum=-1.372e+00;SOR=1.047	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:80,0:80:99:.:.:0,120,1800	20	0	1	0
chr1	240207756	240207821	CCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT	-	exonic	FMN2	.	nonframeshift deletion	FMN2:NM_020066:exon5:c.2944_3009del:p.A1083_G1104del	Mental retardation, autosomal recessive 47, Autosomal recessive	.	612	898	2	0	10	12	0.00111235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0171	0.0155	0.0051	0.0004	0.0179	0.0181	0.0172	0.0336	0.0004995	13	26028	.	0.0033	0.0039	0.0033	0.0034	0.0057	0.0033	0.0032	0.0052	0.0050	0.0025	0.0018	0.0026	0.0002	0.0037	0.0041	0.0034	0.0034	0.0057	0.0009	0.0052	0.0008	0.0010	0.0020	0.0007	0.0006	0.0007	0.0006	0.0011	0.0025	0.0007	0.0006	0	0.0003	0	0.0009	0.0012	0.0020	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	320.94	87	chr1	240207755	.	ACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT	A	320.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.100e-01;DP=1357;ExcessHet=0.0000;FS=1.451;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.29;MQRankSum=1.83;QD=9.17;ReadPosRankSum=-2.660e-01;SOR=0.641	GT:AD:DP:GQ:PL	0/0:80,0:80:99:0,120,1800	20	0	1	0
chr1	240207775	240207775	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	746	721	41	8	6	63	0.0380254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	5665.43	76	chr1	240207775	.	C	T,*	5665.43	.	AC=5,1;AF=0.179,0.036;AN=28;BaseQRankSum=0.155;DP=1288;ExcessHet=0.1504;FS=0.973;InbreedingCoeff=0.0933;MLEAC=6,1;MLEAF=0.214,0.036;MQ=55.45;MQRankSum=2.61;QD=21.46;ReadPosRankSum=0.00;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:76,0,0:76:0:.:.:0,0,1196,0,1196,1196	9	1	3	7
chr1	240207779	240207779	T	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	61.07	80	chr1	240207779	.	T	G,*	61.07	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-1.411e+00;DP=1253;ExcessHet=0.1072;FS=4.046;InbreedingCoeff=-0.0501;MLEAC=1,1;MLEAF=0.024,0.024;MQ=55.78;MQRankSum=-7.110e-01;QD=0.97;ReadPosRankSum=-8.400e-01;SOR=0.754	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:75,0,0:75:99:.:.:0,120,1800,120,1800,1800	19	0	1	0
chr1	240207785	240207785	A	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	6200.34	61	chr1	240207785	.	A	T,*	6200.34	.	AC=6,1;AF=0.214,0.036;AN=28;BaseQRankSum=0.505;DP=1124;ExcessHet=0.3860;FS=0.432;InbreedingCoeff=0.0463;MLEAC=8,1;MLEAF=0.286,0.036;MQ=54.15;MQRankSum=1.73;QD=18.13;ReadPosRankSum=0.388;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:68,0,0:68:0:.:.:0,0,876,0,876,876	8	1	4	7
chr1	240207788	240207788	-	CCCGGAGCAGGAATACCTCCTCCACCCCCTCTA	exonic	FMN2	.	nonframeshift insertion	FMN2:NM_020066:exon5:c.2976_2977insCCCGGAGCAGGAATACCTCCTCCACCCCCTCTA:p.G1104_V1105insAGIPPPPPLPG	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.297e-05	0	0	0	0	5.93e-05	0	0	3.84e-05	1	26028	rs746761716	0.0040	0.0069	0.0039	0.0042	0.0132	0.0039	0.0039	0.0119	0.0113	0.0055	0.0029	0.0121	0.0132	0.0047	0.0110	0.0032	0.0061	0.0071	2.121e-05	0.0005	0	4.471e-05	4.004e-05	0	0	.	.	0	0	0	0	0	0	0	4.004e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	2680.23	68	chr1	240207788	.	T	TCCCGGAGCAGGAATACCTCCTCCACCCCCTCTA,*	2680.23	.	AC=2,1;AF=0.050,0.025;AN=40;BaseQRankSum=-1.476e+00;DP=1101;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5325;MLEAC=2,1;MLEAF=0.050,0.025;MQ=57.12;MQRankSum=3.04;QD=16.54;ReadPosRankSum=0.213;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:71,0,0:71:99:.:.:0,120,1800,120,1800,1800	18	1	0	1
chr1	240207788	240207788	T	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	2680.23	68	chr1	240207788	.	T	TCCCGGAGCAGGAATACCTCCTCCACCCCCTCTA,*	2680.23	.	AC=2,1;AF=0.050,0.025;AN=40;BaseQRankSum=-1.476e+00;DP=1101;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5325;MLEAC=2,1;MLEAF=0.050,0.025;MQ=57.12;MQRankSum=3.04;QD=16.54;ReadPosRankSum=0.213;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:71,0,0:71:99:.:.:0,120,1800,120,1800,1800	18	1	0	1
chr1	240207797	240207797	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	935	562	18	1	6	26	0.0174825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	373.12	58	chr1	240207797	.	G	A,*	373.12	.	AC=1,1;AF=0.036,0.036;AN=28;BaseQRankSum=2.67;DP=943;ExcessHet=0.1259;FS=0.000;InbreedingCoeff=0.1393;MLEAC=1,1;MLEAF=0.036,0.036;MQ=53.04;MQRankSum=1.59;QD=4.10;ReadPosRankSum=-2.966e+00;SOR=0.682	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:72,0,0:72:0:.:.:0,0,1146,0,1146,1146	12	0	1	7
chr1	240207800	240207800	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	888	615	12	1	6	20	0.011254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	324.09	54	chr1	240207800	.	C	A,*	324.09	.	AC=1,1;AF=0.036,0.036;AN=28;BaseQRankSum=1.77;DP=934;ExcessHet=0.1259;FS=0.958;InbreedingCoeff=0.1417;MLEAC=1,1;MLEAF=0.036,0.036;MQ=53.53;MQRankSum=1.59;QD=3.77;ReadPosRankSum=-2.572e+00;SOR=0.920	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:73,0,0:73:0:.:.:0,0,1108,0,1108,1108	12	0	1	7
chr1	240207806	240207806	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	1124	331	37	24	6	91	0.113788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	6284.06	46	chr1	240207806	.	C	T,*	6284.06	.	AC=10,1;AF=0.357,0.036;AN=28;BaseQRankSum=0.800;DP=850;ExcessHet=4.1217;FS=8.259;InbreedingCoeff=-0.1533;MLEAC=13,1;MLEAF=0.464,0.036;MQ=50.66;MQRankSum=0.217;QD=15.95;ReadPosRankSum=0.00;SOR=1.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:20,32,0:52:99:.:.:710,0,343,769,438,1207	4	1	8	7
chr1	240207812	240207812	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	1181	328	2	3	8	16	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	5214.49	31	chr1	240207812	.	G	T,A,*	5214.49	.	AC=11,3,1;AF=0.306,0.083,0.028;AN=36;BaseQRankSum=0.227;DP=776;ExcessHet=1.2994;FS=0.000;InbreedingCoeff=0.0004;MLEAC=12,3,1;MLEAF=0.333,0.083,0.028;MQ=50.73;MQRankSum=1.59;QD=13.61;ReadPosRankSum=-1.507e+00;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:34,16,0,0:50:99:.:.:269,0,733,368,781,1149,368,781,1149,1149	6	1	7	3
chr1	240207818	240207818	A	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	1172	344	5	0	1	6	0.00721501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2333	2505.01	36	chr1	240207818	.	A	T,*	2505.01	.	AC=6,1;AF=0.200,0.033;AN=30;BaseQRankSum=1.26;DP=723;ExcessHet=0.3441;FS=4.214;InbreedingCoeff=0.0526;MLEAC=6,1;MLEAF=0.200,0.033;MQ=49.66;MQRankSum=1.36;QD=13.05;ReadPosRankSum=0.284;SOR=1.012	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:62,0,0:62:0:.:.:0,0,942,0,942,942	9	1	4	6
chr1	240207821	240207821	T	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	1088	429	4	0	1	5	0.00464037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1923.71	37	chr1	240207821	.	T	A,*	1923.71	.	AC=3,1;AF=0.094,0.031;AN=32;BaseQRankSum=-2.530e-01;DP=762;ExcessHet=0.7564;FS=4.519;InbreedingCoeff=-0.1829;MLEAC=4,1;MLEAF=0.125,0.031;MQ=50.40;MQRankSum=2.47;QD=11.38;ReadPosRankSum=-2.080e-01;SOR=1.065	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:64,0,0:64:0:.:.:0,0,1014,0,1014,1014	12	0	3	5
chr1	240208056	240208056	G	A	exonic	FMN2	.	nonsynonymous SNV	FMN2:NM_020066:exon5:c.G3244A:p.G1082R	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.993	D	0.772	P	0.038	N	0.999	N	3.1	M	-0.29	T	-0.409	T	0.446	T	0.283	0.800	8.209	2.97	1.661	1.789	12.155	0.296	0.181914651443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	5.45e-06	0	1.204e-05	1.135e-05	1.75e-06	4.9e-07	3.02e-06	8.4e-07	0	0	0	0	0	0	1.135e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.09	0.40267	T	0.993	0.65571	D	0.772	0.56930	P	0.038251	0.24307	N	0.270551	1	0.08975	N	2.875	0.83380	M	-0.29	0.67712	T	-1.64	0.39314	N	0.362	0.40364	-0.4094	0.71730	T	0.446	0.78221	T	9	0.42783064	0.57292	T	0.181915	0.85586	D	0.296	0.61616	0.588	0.71623	0.648736161131	0.64582	0.12278970421277702	0.12204	0.109930693764	0.12392	0.704009354115	0.67724	T	0.078821	0.35982	T	-0.0667958	0.41838	T	-0.333724	0.41053	T	0.760130941867828	0.43858	D	0.772323	0.40326	T	0.13812384	0.31956	0.16576494	0.38331	0.13812384	0.31956	0.16576494	0.38330	-11.201	0.80748	D	.	.	0.575	0.67831	P	.	.	2.493697	0.32177	18.96	0.71799313138384702	0.09752	0.25948	0.22850	N	AEFI	0.066433	0.13009	N	0.0128267983753784	0.42438	2.556984	-0.235445548881699	0.30276	1.703281	0.0295138572712271	0.13891	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	2.97	2.97	0.33479	1.528000	0.35592	0.000000	0.13247	0.482000	0.22156	0.067000	0.21986	0.296000	0.24193	0.001000	0.02609	0.0:0.0:1.0:0.0	12.155	0.53375	976	0.04745	Formin Homology 1|Formin, FH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	148.98	20	chr1	240208056	.	G	A	148.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.700e-01;DP=458;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=54.24;MQRankSum=2.19;QD=7.09;ReadPosRankSum=0.463;SOR=0.892	GT:AD:DP:GQ:PL	0/0:22,0:22:66:0,66,622	20	0	1	0
chr1	240208143	240208175	CCCCCTCTACCCGGAGCGGGCATACCCCCTCCT	-	exonic	FMN2	.	nonframeshift deletion	FMN2:NM_020066:exon5:c.3331_3363del:p.G1137_P1147del	Mental retardation, autosomal recessive 47, Autosomal recessive	.	856	664	2	0	0	2	0.00150376	.	.	2812876	not_provided|FMN2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1289	.	0.0399	0.0261	0.0241	0.0399	0.0123	0.0462	0.0335	0.0459	.	.	.	.	0.0007	0.0011	0.0006	0.0009	0.0029	0.0007	0.0007	0.0025	0.0024	0.0002	0.0003	0.0015	0.0004	0.0018	0.0026	0.0005	0.0007	0.0029	2.42e-05	0.0004	4.687e-05	0	4.279e-05	0	0	.	.	0	0	0	0	0	0	0	4.279e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	613.29	33	chr1	240208142	.	GCCCCCTCTACCCGGAGCGGGCATACCCCCTCCT	G	613.29	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.038e+00;DP=650;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=56.99;MQRankSum=-2.505e+00;QD=19.78;ReadPosRankSum=1.69;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,19:31:99:0|1:240208142_GCCCCCTCTACCCGGAGCGGGCATACCCCCTCCT_G:627,0,446:240208142	19	0	1	1
chr1	241635117	241635117	A	T	exonic	CHML	.	nonsynonymous SNV	CHML:NM_001821:exon1:c.T650A:p.I217N	.	.	434	1084	4	0	0	4	0.00184162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.974	D	0.901	P	0.000	U	1.000	D	.	.	0.22	T	-0.757	T	0.243	T	0.534	1.318	10.32	3.7	0.956	3.995	7.586	0.344	0.226483729737	.	.	8.259e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs754142169	1.027e-05	1.026e-05	1.226e-05	8.257e-06	0.0009	6.17e-06	4.89e-06	0.0003	0.0002	0	2.236e-05	0	0	0	0.0009	3.597e-06	6.626e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.004	0.74150	D	0.974	0.57829	D	0.901	0.63994	P	0.000000	0.84330	U	0.000000	1	0.81001	D	3.235	0.89610	M	0.22	0.59851	T	-2.84	0.59873	D	0.524	0.55366	-0.7569	0.57572	T	0.243	0.61119	T	9	0.7848741	0.78161	D	0.226484	0.88046	D	0.344	0.66582	0.718	0.85319	0.699787150089	0.69719	0.48761138460232545	0.48681	0.303677372257	0.32695	0.552998423576	0.46280	T	0.203453	0.56193	T	-0.0110982	0.50113	T	-0.170853	0.57364	T	0.875591397285461	0.52547	D	0.925707	0.72678	D	0.54573953	0.69717	0.29808182	0.55841	0.54573953	0.69718	0.29808182	0.55840	-11.543	0.82554	D	.	.	0.319	0.54463	B	.	.	3.735255	0.53455	23.4	0.98933494044319004	0.48788	0.98076	0.79394	D	AEFGBI	0.303589	0.41153	N	0.0775812996418333	0.45417	2.798684	-0.0236801277943599	0.38649	2.280007	0.999998264025902	0.74766	0.660377	0.49826	0	0.633656	0.55848	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	4.86	3.7	0.41607	5.521000	0.66800	6.702000	0.56374	0.756000	0.94297	0.998000	0.41325	0.961000	0.29326	0.914000	0.44937	0.9026:0.0:0.0974:0.0	7.586	0.27163	891	0.26808	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3295.98	35	chr1	241635117	.	A	T	3295.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.062;DP=948;ExcessHet=0.0000;FS=2.898;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.09;ReadPosRankSum=-1.860e+00;SOR=0.527	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1406	20	0	1	0
chr1	241660637	241660637	G	A	exonic	WDR64	.	nonsynonymous SNV	WDR64:NM_001367482:exon2:c.G253A:p.D85N,	.	.	430	1091	1	0	0	1	0.000458085	.	.	2219445	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	.	.	.	.	0.006	N	0.997	N	2.045	M	0.44	T	-0.895	T	0.182	T	0.014	1.960	12.51	2.47	0.232	4.020	6.193	0.225	0.0219863957676	0.0015	.	0.0005	0.0014	0	0	0	0.0009	0	0	0.0002846	44	154602	rs201050656	0.0012	0.0011	0.0012	0.0012	0.0023	0.0011	0.0011	0.0019	0.0017	0.0004	0.0023	0	0	4.056e-05	0.0002	0.0014	0.0010	0	0.0010	0.0010	0.0013	0.0008	0.0021	0.0009	0.0008	0.0015	0.0013	0.0004	0	0.0021	0	0	0	0.0102	0.0015	0.0014	0	0.01	0.56456	D	0.012	0.63918	D	.	.	.	.	.	.	0.006367	0.32080	N	0.213463	1	0.08975	N	2.685	0.78553	M	0.42	0.56937	T	-3.68	0.70314	D	0.264	0.29889	-0.8947	0.48512	T	0.182	0.53026	T	8	0.029717296	0.01098	T	0.021986	0.44830	T	0.225	0.52323	.	.	0.139678290688	0.13603	0.39766318765350744	0.39681	0.0817970111482	0.09213	0.436706483364	0.30127	T	0.075862	0.35279	T	-0.566216	0.00233	T	-0.592274	0.13469	T	0.0676026917992913	0.08311	T	0.671533	0.28021	T	0.09419986	0.22142	0.069598556	0.14684	0.09419986	0.22142	0.069598556	0.14684	-3.652	0.18612	T	.	.	0.089	0.11989	B	.	.	2.346690	0.30078	18.33	0.99467550868907051	0.66154	0.62931	0.31932	D	AEFI	0.198314	0.32518	N	-0.264710655869414	0.30521	1.702574	-0.352004736131554	0.26447	1.460858	0.00156811698196575	0.08647	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.45	2.47	0.29113	4.410000	0.59530	4.376000	0.43165	-0.148000	0.12190	1.000000	0.71638	1.000000	0.68203	0.002000	0.04165	0.1749:0.1504:0.6747:0.0	6.193	0.19748	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1797.98	33	chr1	241660637	.	G	A	1797.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=843;ExcessHet=0.0000;FS=6.870;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=-9.930e-01;SOR=1.254	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr1	241787896	241787896	G	A	exonic	WDR64	.	nonsynonymous SNV	WDR64:NM_001367482:exon24:c.G2753A:p.R918Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.573	P	0.049	B	0.002	N	0.700	N	1.95	M	0.92	T	-1.032	T	0.075	T	0.291	1.778	11.91	3.12	0.435	0.811	9.065	0.082	0.0108489923757	7.7e-05	.	3.319e-05	0.0002	0	0	0	1.504e-05	0	6.292e-05	2.59e-05	4	154602	rs143794967	2.809e-05	2.873e-05	2.045e-05	3.581e-05	0.0005	2.09e-05	1.881e-05	0.0001	7.56e-05	0	0	0	0	0	0.0005	3.15e-05	3.318e-05	1.167e-05	1.972e-05	1.97e-05	0	4.038e-05	6.545e-05	5.24e-06	2.45e-06	.	.	2.415e-05	0	6.545e-05	0	0	0	0	1.47e-05	0	0	0.213	0.19430	T	0.103	0.41913	T	0.328	0.33195	B	0.012	0.16012	B	0.001735	0.38161	N	0.119284	0.700242	0.30110	N	1.59	0.40313	L	0.92	0.44461	T	-0.87	0.23590	N	0.106	0.20262	-1.0315	0.19970	T	0.075	0.30055	T	10	0.0937902	0.16626	T	0.010849	0.27853	T	0.082	0.23913	.	.	0.146414634003	0.14194	0.1690467053722706	0.16824	0.0855495186323	0.09666	0.272784054279	0.06506	T	0.001099	0.00611	T	-0.368184	0.03687	T	-0.529979	0.19287	T	0.0636990964412689	0.07738	T	0.779722	0.44465	T	0.053448543	0.10114	0.05728759	0.10388	0.053448543	0.10114	0.05728759	0.10387	-5.654	0.43282	T	.	.	0.083	0.30842	B	.;.;.	.;.;.	2.244287	0.28660	17.87	0.95819269671408513	0.27907	0.60751	0.31286	D	AEFDBI	0.180216	0.30752	N	-0.405738663125765	0.25268	1.370359	-0.324036426569658	0.27325	1.515407	6.49933312585449E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.96	3.12	0.34986	0.752000	0.26027	1.822000	0.29048	-0.121000	0.13915	0.999000	0.42656	1.000000	0.68203	0.829000	0.39076	0.2294:0.0:0.7706:0.0	9.065	0.35621	823	0.40596	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	330.98	35	chr1	241787896	.	G	A	330.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.51;DP=766;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.25;ReadPosRankSum=1.12;SOR=0.763	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr1	241879152	241879152	C	T	exonic	EXO1	.	nonsynonymous SNV	EXO1:NM_003686:exon11:c.C1918T:p.P640S	.	.	424	1059	37	2	0	41	0.0189903	.	.	3199359	EXO1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.94	T	0.006	B	0.004	B	0.758	N	1.000	N	0.255	N	1.51	T	-0.991	T	0.023	T	0.681	0.737	7.913	1.31	0.381	-0.534	5.583	0.008	.	0.0069	0.019369	0.0130	0.0072	0.0026	0.0035	0.0039	0.0061	0.0122	0.0607	0.0118692	1835	154602	rs61736331	0.0091	0.0091	0.0077	0.0106	0.0565	0.0090	0.0089	0.0552	0.0547	0.0072	0.0030	0.0006	0.0190	0.0036	0.0151	0.0058	0.0096	0.0565	0.0077	0.0077	0.0073	0.0080	0.0559	0.0073	0.0071	0.0504	0.0483	0.0073	0	0.0033	0.0009	0.0083	0.0028	0.0068	0.0066	0.0071	0.0559	0.676	0.04482	T	0.842	0.03589	T	0.003	0.13644	B	0.002	0.10090	B	0.758298	0.09644	N	0.899174	1	0.08975	N	1.175	0.29870	L	1.51	0.30937	T	-0.55	0.16799	N	0.024	0.00571	-0.9914	0.32244	T	0.023	0.09604	T	10	0.0018211603	0.00024	T	.	.	.	0.208	0.49714	.	.	.	.	0.156109575900888	0.15531	0.0490915211193	0.05371	0.233549177647	0.02241	T	0.097551	0.40049	T	-0.447715	0.01165	T	-0.373393	0.36493	T	0.00130520188550032	0.00013	T	0.60024	0.22396	T	0.016101342	0.00176	0.024544803	0.00477	0.021404697	0.00742	0.026807906	0.00792	-2.855	0.08701	T	.	.	0.071	0.11076	B	.;.;.	.;.;.	0.130489	0.05263	1.762	0.47857533652013584	0.03946	0.02927	0.07740	N	AEFBI	0.034876	0.04397	N	-1.24310704258637	0.04391	0.1980764	-1.17819292073773	0.06275	0.3015582	0.738177102866387	0.23167	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.72	1.31	0.20837	-0.510000	0.06411	-1.934000	0.04472	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.298000	0.24452	0.0:0.5173:0.1405:0.3422	5.583	0.16540	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1691.98	33	chr1	241879152	.	C	T	1691.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.43;DP=1475;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=0.776;SOR=0.711	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1156	20	0	1	0
chr1	243164613	243164613	A	G	exonic	CEP170	.	nonsynonymous SNV	CEP170:NM_001042404:exon12:c.T3053C:p.L1018P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	1.0	D	0.999	D	0.000	D	1.000	D	0.69	N	0.75	T	-0.879	T	0.178	T	0.842	2.891	15.63	5.04	1.879	8.663	13.964	0.377	0.0692907707242	.	0.000199681	8.32e-06	0.0001	0	0	0	0	0	0	3.84e-05	1	26028	rs564306490	2.053e-06	2.052e-06	1.362e-06	2.751e-06	2.519e-05	5.5e-07	1.5e-07	.	.	0	0	0	2.519e-05	0	0	8.995e-07	1.657e-05	0	6.564e-06	6.561e-06	1.284e-05	0	2.405e-05	0	0	.	.	2.405e-05	0	0	0	0	0	0	0	0	0	0.207	0.19854	T	0.245	0.24054	T	0.999	0.77913	D	0.966	0.84481	D	0.000003	0.62929	D	0.062483	1	0.81001	D	1.255	0.31814	L	0.75	0.51474	T	-1.7	0.40468	N	0.782	0.77883	-0.8790	0.49840	T	0.178	0.52334	T	10	0.6914418	0.71880	D	0.069291	0.70689	D	0.377	0.69527	0.128	0.03331	0.680411640291	0.67769	0.23372308482298973	0.23287	.	.	0.866966784	0.92131	D	0.03782	0.24615	T	0.0570461	0.59242	T	0.0256943	0.71999	D	0.554442584514618	0.34644	D	.	.	.	0.34033442	0.56306	0.458112	0.68513	0.34033442	0.56306	0.458112	0.68513	-7.895	0.61159	D	.	.	0.650	0.71656	P	.;.;.	.;.;.	4.783880	0.77568	26.7	0.99757116713734117	0.84772	0.97819	0.77366	D	AEFDGBI	0.960247	0.98096	D	0.539493869813663	0.69442	5.357835	0.571670279753969	0.72918	5.88604	0.999850697816334	0.44174	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.04	5.04	0.67293	8.652000	0.90837	11.203000	0.89108	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	13.964	0.63710	803	0.44167	CEP170, C-terminal;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1781.98	35	chr1	243164613	.	A	G	1781.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.740e-01;DP=871;ExcessHet=0.0000;FS=1.298;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.81;MQRankSum=-4.520e-01;QD=12.12;ReadPosRankSum=-1.029e+00;SOR=0.582	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1179	20	0	1	0
chr1	243164788	243164788	T	C	exonic	CEP170	.	nonsynonymous SNV	CEP170:NM_001042404:exon12:c.A2878G:p.T960A	.	.	437	1081	4	0	0	4	0.00184672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.033	B	0.027	B	0.004	N	1.000	D	0.145	N	0.93	T	-1.088	T	0.041	T	0.143	1.532	11.08	2.61	0.758	1.301	2.307	0.040	0.00337698216408	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.14793	T	0.116	0.36497	T	0.003	0.12183	B	0.003	0.12133	B	0.003501	0.34874	N	0.314636	0.852511	0.28476	N	0.625	0.15840	N	0.93	0.44461	T	-1.18	0.30140	N	0.129	0.17966	-1.0880	0.05873	T	0.041	0.17700	T	10	0.057254195	0.06548	T	0.003377	0.07572	T	0.040	0.10527	0.086	0.00867	0.226586394389	0.22295	0.19417212300299	0.19335	.	.	0.350310444832	0.17967	T	0.022317	0.17228	T	-0.217121	0.18388	T	-0.549656	0.17358	T	0.118821117053901	0.14315	T	.	.	.	0.0282115	0.02124	0.029842814	0.01368	0.0282115	0.02124	0.029842814	0.01368	-3.706	0.19407	T	.	.	0.068	0.02861	B	.;.;.	.;.;.	1.981023	0.25168	16.66	0.87074863913847245	0.16971	0.78391	0.38668	D	AEFDGBI	0.213461	0.33904	N	-0.525461134752241	0.21260	1.126911	-0.331187252672746	0.27097	1.50124	0.0023660332368525	0.09356	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.15	2.61	0.30255	1.302000	0.33063	1.205000	0.24865	0.660000	0.55035	1.000000	0.71638	0.923000	0.28366	0.996000	0.76049	0.1556:0.0902:0.1615:0.5927	2.307	0.03922	803	0.44167	CEP170, C-terminal;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1948.98	35	chr1	243164788	.	T	C	1948.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.49;DP=982;ExcessHet=0.0000;FS=2.067;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.97;MQRankSum=0.418;QD=13.08;ReadPosRankSum=-7.410e-01;SOR=0.886	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1179	20	0	1	0
chr1	243330649	243330649	T	C	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon10:c.T884C:p.M295T	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.288	B	0.157	B	0.015	N	1.000	N	1.59	L	0.96	T	-1.004	T	0.097	T	0.474	1.753	11.82	5.78	2.206	4.328	12.493	0.074	0.0097323393981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	1.363e-06	0	9.004e-07	0	0	.	.	0	0	0	0	0	0	9.004e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.25768	T	0.033	0.53072	D	0.288	0.32258	B	0.142	0.33681	B	0.014502	0.28512	N	0.453510	0.991261	0.24058	N	2.35	0.67516	M	0.96	0.42888	T	-1.36	0.39119	N	0.326	0.36674	-1.0039	0.28785	T	0.097	0.36393	T	10	0.17887664	0.32995	T	0.009732	0.25404	T	0.074	0.21613	0.189	0.09907	0.483448007585	0.47975	0.09831529846527605	0.09762	0.077331380461	0.08693	0.505008280277	0.39526	T	0.01979	0.21521	T	-0.0887363	0.38287	T	-0.36524	0.37444	T	0.598834455013275	0.36354	D	0.759724	0.38410	T	0.19019835	0.40594	0.10757766	0.25900	0.19019835	0.40594	0.10757766	0.25899	-6.297	0.48698	T	0.14363118300184172	0.16344	0.331	0.55320	B	.;.	.;.	2.324314	0.29769	18.23	0.95285732624943364	0.26586	0.92014	0.54755	D	AEFBI	0.442092	0.49996	N	-0.0401053196164673	0.40046	2.371564	0.107935306068944	0.44954	2.767287	0.989291218126179	0.31780	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.78	5.78	0.91418	4.591000	0.60729	3.506000	0.38809	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.888000	0.42677	0.0:0.0:0.0:1.0	12.493	0.55251	590	0.68897	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.1429	1231.01	149	chr1	243330649	.	T	C	1231.01	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-4.731e+00;DP=2188;ExcessHet=1.7912;FS=129.457;InbreedingCoeff=-0.1662;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=1.02;ReadPosRankSum=1.60;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1401	15	0	6	0
chr1	243330650	243330650	G	A	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon10:c.G885A:p.M295I	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.001	B	0.003	B	0.015	N	1.000	N	0.69	N	0.94	T	-1.038	T	0.059	T	0.245	-0.215	2.958	3.84	0.719	2.003	6.558	0.032	0.00632597119373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01950	T	0.234	0.24840	T	0.0	0.02946	B	0.002	0.06944	B	0.014502	0.28512	N	0.453510	0.998133	0.22332	N	1.655	0.42436	L	0.94	0.43672	T	-0.36	0.13805	N	0.134	0.13055	-1.0378	0.17985	T	0.059	0.24871	T	10	0.06551871	0.08850	T	0.006326	0.16610	T	0.032	0.07718	0.2	0.11384	0.277730125212	0.27379	0.06689497572896488	0.06627	0.0422791242989	0.04555	0.43775510788	0.30270	T	0.015516	0.13294	T	-0.198068	0.21084	T	-0.522287	0.20064	T	0.111812710762024	0.13609	T	0.748825	0.36981	T	0.06465344	0.13740	0.049524207	0.07586	0.06465344	0.13740	0.049524207	0.07585	-4.367	0.29106	T	0.08085815892315676	0.04119	0.334	0.55487	B	.;.	.;.	1.361264	0.17704	13.32	0.69353412739573272	0.08945	0.80020	0.39772	D	AEFBI	0.121707	0.23650	N	-0.389817834839874	0.25830	1.405158	-0.219855073360214	0.30825	1.738947	0.037651775745868	0.14308	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.78	3.84	0.43422	1.754000	0.37998	4.467000	0.43481	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.887000	0.42601	0.093:0.0:0.7284:0.1787	6.558	0.21666	590	0.68897	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.09524	816.92	127	chr1	243330650	.	G	A	816.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-4.186e+00;DP=1692;ExcessHet=0.6776;FS=142.985;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.98;ReadPosRankSum=3.04;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1401	17	0	4	0
chr1	244055011	244055011	G	A	exonic	ZBTB18	.	nonsynonymous SNV	ZBTB18:NM_006352:exon1:c.G1210A:p.A404T	.	.	0	1518	4	0	0	4	0.00131579	.	.	746368	not_provided|Intellectual_disability,_autosomal_dominant_22	MedGen:C3661900|MONDO:MONDO:0012869,MedGen:CN029689,OMIM:612337	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.999	D	0.99	D	0.000	D	1.000	D	0.345	N	1.27	T	-1.074	T	0.114	T	0.57	2.002	12.65	5.84	2.779	6.307	20.138	0.242	0.0169052395807	0.0005	0.00179712	0.0005	0	0.0003	0	0	0.0003	0	0.0018	0.0004204	65	154602	rs140492097	0.0003	0.0003	0.0003	0.0003	0.0021	0.0003	0.0003	0.0012	0.0011	2.987e-05	0.0002	0	0	0	0.0021	0.0002	0.0005	0.0014	0.0002	0.0002	0.0002	0.0002	0.0025	0.0002	0.0001	0.0014	0.0011	2.405e-05	0	0.0001	0	0	0	0	0.0003	0	0.0025	0.272	0.15930	T	0.824	0.03783	T	0.999	0.77913	D	0.978	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.255	0.31814	L	1.27	0.36146	T	-0.39	0.13611	N	0.378	0.47022	-1.0740	0.08556	T	0.114	0.40536	T	10	0.008904636	0.00202	T	0.016905	0.38384	T	0.242	0.54781	.	.	0.228066490088	0.22430	0.5581485648392495	0.55741	0.803511162312	0.66361	0.628293514252	0.56903	T	0.090235	0.38542	T	-0.337024	0.05597	T	-0.270118	0.47807	T	0.114651684765765	0.13899	T	0.820118	0.47860	T	0.26469877	0.49537	0.36158037	0.61579	0.26469877	0.49537	0.36158037	0.61578	-2.095	0.03597	T	.	.	0.135	0.37709	B	.;.	.;.	3.913103	0.57078	23.8	0.98910986890892161	0.48363	0.95280	0.64110	D	AEFDBHCIJ	0.591428	0.58753	D	0.349466668556827	0.58712	4.045132	0.418163463230847	0.62696	4.48949	1.0	0.98316	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	8.023000	0.89142	7.686000	0.65553	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0:0.0:1.0:0.0	20.138	0.98040	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2517.98	34	chr1	244055011	.	G	A	2517.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.250e-01;DP=881;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.64;ReadPosRankSum=-9.800e-02;SOR=0.654	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1125	20	0	1	0
chr1	244552666	244552666	G	A	exonic	CATSPERE	.	nonsynonymous SNV	CATSPERE:NM_001242340:exon6:c.G428A:p.R143Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.239	B	0.034	B	0.000	N	1.000	N	1.175	L	1.57	T	-1.069	T	0.046	T	0.065	1.670	11.54	-11.2	-4.488	-1.469	8.462	0.060	0.00467926238764	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs774437688	4.515e-05	4.515e-05	4.356e-05	4.675e-05	0.0005	3.641e-05	3.321e-05	0.0003	0.0003	0	0	0	0.0005	0	0	3.777e-05	6.623e-05	1.159e-05	7.893e-05	7.882e-05	8.998e-05	6.736e-05	0.0002	4.501e-05	3.516e-05	0.0001	8.463e-05	0.0002	0	0	0	0	0	0	4.41e-05	0	0	0.137	0.29823	T	0.274	0.23164	T	0.239	0.30839	B	0.034	0.22546	B	0.000019	0.00348	N	4.079040	1	0.08975	N	.	.	.	1.57	0.29602	T	-0.65	0.18877	N	0.092	0.08088	-1.0691	0.09612	T	0.046	0.19720	T	10	0.061074495	0.07602	T	0.004679	0.11628	T	0.060	0.17295	0.402	0.43245	0.0806252709748	0.07271	0.15033613855731834	0.14955	0.190945093199	0.21410	.	.	.	0.004135	0.03542	T	-0.45494	0.01056	T	-0.760815	0.03084	T	0.0874546300747299	0.10912	T	0.642936	0.25461	T	0.03285271	0.03389	0.03571256	0.02875	0.03285271	0.03388	0.03571256	0.02875	-3.429	0.17713	T	.	.	0.122	0.26138	B	.;.;.;.	.;.;.;.	-1.823504	0.00149	0.002	0.83315087075535965	0.14659	0.00192	0.01112	N	AEFDGHCI	0.031044	0.03239	N	-1.81982219734544	0.00498	0.02145423	-1.99962807093466	0.00307	0.01354861	1.0	0.98316	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.6	-11.2	0.00099	-1.169000	0.03230	-9.055000	0.00874	-0.790000	0.03253	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6234:0.2119:0.0937:0.0709	8.462	0.32093	816	0.41767	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2486.98	37	chr1	244552666	.	G	A	2486.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.822;DP=869;ExcessHet=0.0000;FS=3.144;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.25;ReadPosRankSum=2.12;SOR=0.458	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1328	20	0	1	0
chr1	245684321	245684321	G	A	exonic	KIF26B	.	nonsynonymous SNV	KIF26B:NM_018012:exon11:c.G2347A:p.G783R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.346	B	0.121	B	.	.	0.950	N	-0.605	N	-0.81	T	-0.970	T	0.157	T	0.466	2.535	14.44	3.83	0.745	3.797	13.220	0.236	0.0253393004105	0.0002	.	3.329e-05	0.0001	8.666e-05	0	0	3.017e-05	0	0	2.59e-05	4	154602	rs368259033	1.779e-05	1.779e-05	1.77e-05	1.788e-05	8.961e-05	1.238e-05	1.052e-05	2.374e-05	1.258e-05	8.961e-05	2.236e-05	0.0001	0	0	0	1.529e-05	3.313e-05	0	5.914e-05	5.911e-05	2.569e-05	9.418e-05	0.0001	3.078e-05	2.21e-05	6.283e-05	4.3e-05	0.0001	0	0	0	0	0	0	4.409e-05	0	0	0.111	0.32929	T	0.249	0.23776	T	0.165	0.33564	B	0.075	0.32300	B	.	.	.	.	0.950364	0.26507	N	-0.29	0.03673	N	-0.81	0.73949	T	-1.96	0.45404	N	0.737	0.73735	-0.9701	0.37179	T	0.157	0.49010	T	9	0.19967112	0.35985	T	0.025339	0.48313	D	0.236	0.53931	0.442	0.49811	0.391826234366	0.38797	0.4729267934837558	0.47211	0.35881551398	0.37586	0.596722364426	0.52442	T	0.319339	0.69064	T	-0.140802	0.29762	T	-0.258501	0.48975	T	0.0758066028356552	0.09442	T	0.882012	0.60217	D	0.10605221	0.25075	0.1875609	0.41995	0.10605221	0.25075	0.1875609	0.41994	-6.609	0.51122	T	.	.	0.213	0.44214	B	.;.	.;.	1.951083	0.24781	16.52	0.99265603584166839	0.57356	0.87836	0.47514	D	AEFDBI	0.175377	0.30255	N	-0.461279538975969	0.23358	1.253855	-0.309249329059672	0.27798	1.545135	0.0166299566745142	0.12853	0.706298	0.61202	0	0.709663	0.81188	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.73	3.83	0.43287	3.843000	0.55575	5.009000	0.46655	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.1153:0.0:0.8847:0.0	13.220	0.59309	967	0.07127	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2566.98	34	chr1	245684321	.	G	A	2566.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.80;DP=957;ExcessHet=0.0000;FS=1.063;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=-1.220e-01;SOR=0.619	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1351	20	0	1	0
chr1	245686864	245686864	C	T	exonic	KIF26B	.	nonsynonymous SNV	KIF26B:NM_018012:exon12:c.C3881T:p.S1294L,	.	.	425	1094	3	0	0	3	0.00136924	.	.	718847	KIF26B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.08	T	0.995	D	0.719	P	.	.	1.000	D	2.32	M	-1.64	D	0.297	D	0.653	D	0.402	3.846	19.54	5.92	2.813	7.807	20.321	0.503	0.20537486938	0.0019	0.000199681	0.0013	0.0007	0.0009	0	0.0003	0.0019	0.0011	0.0001	0.0011578	179	154602	rs201987019	0.0018	0.0018	0.0018	0.0018	0.0024	0.0018	0.0017	0.0021	0.0021	0.0007	0.0009	0	0	0.0011	0.0024	0.0022	0.0011	6.96e-05	0.0013	0.0013	0.0013	0.0012	0.0022	0.0011	0.0011	0.0020	0.0018	0.0006	0	0.0001	0	0	0.0005	0.0068	0.0022	0.0024	0	0.001	0.78490	D	0.007	0.69154	D	0.992	0.67487	D	0.652	0.54822	P	.	.	.	.	1	0.81001	D	2.695	0.78878	M	-1.65	0.82625	D	-2.58	0.55662	D	0.494	0.52740	0.297	0.87513	D	0.653	0.87935	D	9	0.039952874	0.02525	T	0.205375	0.86981	D	0.503	0.78538	.	.	0.451049791843	0.44729	0.46689827526882227	0.46608	0.268949311716	0.29407	0.435465574265	0.29956	T	0.521138	0.83256	D	-0.192013	0.21963	T	-0.0547573	0.66696	D	0.0361587894523861	0.03009	T	0.928407	0.73561	D	0.18967241	0.40519	0.24892916	0.50454	0.18967241	0.40519	0.24892916	0.50453	-4.005	0.23878	T	.	.	0.159	0.39305	B	.;.	.;.	4.238429	0.64244	24.7	0.99838549473727811	0.91972	0.99119	0.91505	D	AEFDGBI	0.916849	0.88362	D	0.726209524596274	0.81352	7.501727	0.728413409344753	0.84536	8.319335	0.999999999993229	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.61531	0.40942	0	0.562822	0.20929	0	.	.	5.92	5.92	0.95557	7.894000	0.85895	7.606000	0.61733	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	20.321	0.98668	967	0.07127	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2426.98	102	chr1	245686864	.	C	T	2426.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.99;DP=1532;ExcessHet=0.0000;FS=2.427;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=1.19;SOR=0.876	GT:AD:DP:GQ:PL	0/1:113,94:207:99:2441,0,2753	20	0	1	0
chr1	245687047	245687047	C	G	exonic	KIF26B	.	nonsynonymous SNV	KIF26B:NM_018012:exon12:c.C4064G:p.A1355G,	.	.	430	1083	9	0	0	9	0.00413793	.	.	2812923	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.02	B	0.006	B	.	.	1.000	N	1.04	L	-1.12	T	-0.808	T	0.231	T	0.034	0.425	6.311	4.9	2.756	2.704	10.678	0.213	0.0326112070447	0.0023	0.000998403	0.0026	0.0006	0.0018	0	0	0.0041	0.0035	0.0008	0.0023156	358	154602	rs190878095	0.0021	0.0021	0.0020	0.0022	0.0128	0.0020	0.0020	0.0105	0.0096	0.0009	0.0025	0.0422	0	3.767e-05	0.0128	0.0012	0.0059	0.0011	0.0021	0.0021	0.0022	0.0019	0.0029	0.0019	0.0018	0.0022	0.0020	0.0006	0	0.0029	0.0432	0	9.423e-05	0.0068	0.0012	0.0033	0.0004	0.053	0.38863	T	0.099	0.38891	T	0.006	0.18235	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	-1.12	0.77593	T	-1.12	0.29114	N	0.16	0.16725	-0.8076	0.54695	T	0.231	0.59657	T	9	0.0031763017	0.00053	T	0.032611	0.54387	D	0.213	0.50496	.	.	0.376089632046	0.37223	0.19510935206649382	0.19427	0.30379330075	0.32703	0.25315529108	0.04108	T	0.150438	0.48991	T	-0.509735	0.00504	T	-0.502641	0.22074	T	0.00984324303304869	0.00130	T	0.750425	0.37198	T	0.061041728	0.12595	0.08241524	0.18807	0.06341246	0.13350	0.08888702	0.20751	-4.161	0.26185	T	.	.	0.097	0.21503	B	.;.	.;.	1.493026	0.19202	14.14	0.91056633131726317	0.20308	0.65572	0.32782	D	AEFDBI	0.336397	0.43453	N	-0.488699259861354	0.22451	1.198877	-0.440108093857011	0.23830	1.301644	0.849636989790684	0.25020	0.706548	0.73137	0	0.724815	0.89359	0	0.61531	0.40942	0	0.604944	0.38103	0	.	.	5.82	4.9	0.63643	2.214000	0.42493	2.597000	0.33501	0.599000	0.40250	0.006000	0.17386	0.023000	0.20922	0.454000	0.27984	0.1329:0.7979:0.0:0.0692	10.678	0.44995	967	0.07127	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1703.98	102	chr1	245687047	.	C	G	1703.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.793;DP=1510;ExcessHet=0.0000;FS=3.189;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=-1.991e+00;SOR=0.980	GT:AD:DP:GQ:PL	0/0:93,0:93:99:0,120,1800	20	0	1	0
chr1	245688148	245688148	G	C	exonic	KIF26B	.	nonsynonymous SNV	KIF26B:NM_018012:exon12:c.G5165C:p.G1722A,	.	.	424	1095	3	0	0	3	0.00136799	.	.	3212330	KIF26B-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.86	T	0.307	B	0.138	B	.	.	0.939	D	1.905	M	-1.26	T	-0.573	T	0.335	T	0.407	0.181	4.972	4.28	1.177	4.881	13.383	0.327	.	.	0.00299521	0.0025	0	0	0	0	0	0	0.0139	0.0011707	181	154602	rs551218176	0.0006	0.0006	0.0003	0.0008	0.0092	0.0005	0.0005	0.0087	0.0085	0	0	0	0	0	0.0002	3.607e-06	0.0005	0.0092	0.0004	0.0004	0.0001	0.0006	0.0112	0.0003	0.0003	0.0088	0.0080	2.405e-05	0	0	0	0	0	0	1.471e-05	0	0.0112	0.16	0.24372	T	0.218	0.26066	T	0.307	0.32716	B	0.089	0.33406	B	.	.	.	.	0.792258	0.37232	D	1.615	0.41426	L	-1.26	0.79176	T	-1.65	0.39692	N	0.326	0.36674	-0.5725	0.65916	T	0.335	0.70174	T	9	0.0072256923	0.00164	T	.	.	.	0.327	0.64926	0.13	0.03494	0.422646075125	0.41881	0.26977013086311086	0.26890	0.324860348844	0.34644	0.591419935226	0.51694	T	0.098866	0.40311	T	-0.312995	0.07487	T	-0.214981	0.53219	T	0.0336998504763211	0.02588	T	0.750625	0.37241	T	0.11824038	0.27862	0.14872615	0.35144	0.109053805	0.25784	0.15950073	0.37195	-3.021	0.10409	T	.	.	0.080	0.11654	B	.;.	.;.	2.360706	0.30275	18.39	0.65591288660534097	0.07816	0.96279	0.68366	D	AEFDBCI	0.516076	0.54277	D	-0.245354715613	0.31289	1.752977	-0.172072133888346	0.32569	1.85424	0.999998196466222	0.74766	0.656854	0.48797	0	0.69481	0.67340	0	0.606814	0.37721	0	0.562822	0.20929	0	.	.	5.2	4.28	0.50183	4.982000	0.63547	10.302000	0.83277	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.266000	0.23669	0.0:0.0:0.8422:0.1578	13.383	0.60225	967	0.07127	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1474.98	45	chr1	245688148	.	G	C	1474.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.138;DP=966;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.60;ReadPosRankSum=-1.155e+00;SOR=0.641	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1575	20	0	1	0
chr1	246767202	246767202	G	C	exonic	SCCPDH	.	nonsynonymous SNV	SCCPDH:NM_016002:exon12:c.G1192C:p.V398L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	1.0	D	1.0	D	0.000	D	1.000	D	3.36	M	0.6	T	0.008	D	0.430	T	0.865	4.580	24.9	5.0	1.503	8.788	15.183	0.560	0.0607066122749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.011	0.64786	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.052981	1	0.81001	D	3.025	0.86340	M	0.6	0.53731	T	-2.56	0.55339	D	0.813	0.80866	0.008	0.82423	D	0.430	0.77238	T	10	0.969491	0.96509	D	0.060707	0.68090	D	0.560	0.81946	0.875	0.96581	0.849804418415	0.84836	0.9023042328331593	0.90202	0.628220077563	0.56899	0.435453057289	0.29955	T	0.312982	0.68476	T	0.277	0.81094	D	0.16069	0.80851	D	0.995431065559387	0.87417	D	0.939806	0.77272	D	0.5842948	0.71842	0.36693108	0.62013	0.5842948	0.71843	0.36693108	0.62012	-8.706	0.65785	D	.	.	0.813	0.77883	P	.	.	5.176468	0.86775	29.0	0.9980880289366385	0.89264	0.99645	0.98295	D	AEFBI	0.933965	0.92666	D	0.903023816211085	0.91906	11.12833	0.831453057332703	0.91888	11.12129	0.999984630838445	0.51787	0.719381	0.83141	0	0.724815	0.89359	0	0.709663	0.75317	0	0.733575	0.97253	0	.	.	5.91	5.0	0.66209	9.015000	0.93160	11.860000	0.98299	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0673:0.0:0.9327:0.0	15.183	0.72656	776	0.48302	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	31.0	42	chr1	246767202	.	G	C	31.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.757e+00;DP=1112;ExcessHet=0.0000;FS=199.700;InbreedingCoeff=-0.0258;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.51;ReadPosRankSum=1.49;SOR=9.346	GT:AD:DP:GQ:PL	0/0:57,14:71:63:0,63,1131	20	0	1	0
chr1	246843863	246843863	T	A	exonic	AHCTF1	.	nonsynonymous SNV	AHCTF1:NM_001323342:exon34:c.A6457T:p.I2153F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	T	0.0	B	0.0	B	0.454	N	1.000	N	-1.67	N	1.92	T	-1.001	T	0.010	T	0.038	-2.040	0.006	-4.19	-1.033	0.359	0.498	0.040	0.00344914572862	.	0.000199681	7.161e-05	0	0	0.0010	0	0	0	0	5.82e-05	9	154602	rs201853355	1.399e-05	1.71e-05	1.167e-05	1.634e-05	0.0005	8.95e-06	7.21e-06	0.0003	0.0003	0	0	0	0.0005	0	0	0	1.803e-05	0	3.284e-05	3.281e-05	2.571e-05	4.03e-05	0.0010	1.261e-05	7.98e-06	0.0004	0.0002	0	0	0	0	0.0010	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.454085	0.12471	N	0.760291	0.999931	0.19363	N	-1.095	0.01012	N	1.9	0.23486	T	0.58	0.02598	N	0.085	0.06190	-1.0010	0.29631	T	0.010	0.03673	T	10	0.010801256	0.00239	T	0.003449	0.07786	T	0.040	0.10527	0.328	0.31196	0.082315109003	0.07666	0.060181362320516255	0.05958	0.383364715354	0.39662	0.248129919171	0.03573	T	0.038846	0.24984	T	-0.632871	0.00092	T	-0.758557	0.03164	T	0.179500803351402	0.19203	T	0.555444	0.19245	T	0.029862862	0.02551	0.033316668	0.02205	0.029862862	0.02550	0.033316668	0.02205	-4.114	0.25496	T	.	.	0.082	0.08802	B	.;.;.	.;.;.	-0.100539	0.03638	0.724	0.50912197118704317	0.04468	0.16213	0.19284	N	AEFGBI	0.034931	0.04411	N	-1.72905958213654	0.00743	0.03210848	-1.62320792093669	0.01520	0.06883614	0.00190143236317736	0.08993	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.03	-4.19	0.03573	0.477000	0.21906	0.517000	0.19131	-0.909000	0.02273	0.969000	0.34210	0.562000	0.25526	0.230000	0.22734	0.3612:0.2504:0.1438:0.2447	0.498	0.00536	813	0.42397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	449.98	27	chr1	246843863	.	T	A	449.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.749;DP=688;ExcessHet=0.0000;FS=1.402;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.52;ReadPosRankSum=-7.100e-01;SOR=1.022	GT:AD:DP:GQ:PL	0/0:38,0:38:96:0,96,1440	20	0	1	0
chr1	246850179	246850179	C	G	exonic	AHCTF1	.	nonsynonymous SNV	AHCTF1:NM_001323342:exon33:c.G5827C:p.V1943L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.4	B	0.052	B	0.571	N	1.000	N	1.245	L	1.49	T	-1.026	T	0.052	T	0.097	0.958	8.909	0.015	0.083	-0.093	7.666	0.052	0.0153984795677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.615	0.05388	T	0.683	0.06147	T	0.022	0.18677	B	0.006	0.12133	B	0.571142	0.05480	N	1.233050	1	0.08975	N	2.3	0.65703	M	1.48	0.31731	T	-0.84	0.22944	N	0.202	0.22357	-1.0255	0.21919	T	0.052	0.22114	T	10	0.08751756	0.14981	T	0.015398	0.36109	T	0.052	0.14661	0.375	0.38830	0.412947484847	0.40908	0.12958851901145016	0.12883	0.270889457087	0.29614	0.232656523585	0.02170	T	0.108789	0.42211	T	-0.30027	0.08633	T	-0.669093	0.07667	T	0.951009750366211	0.63463	D	0.665033	0.27384	T	0.029064149	0.02342	0.026640462	0.00765	0.029064149	0.02341	0.026640462	0.00765	-3.661	0.18744	T	.	.	0.153	0.33936	B	.;.;.	.;.;.	-0.215492	0.03013	0.457	0.62842735329630794	0.07067	0.12242	0.17148	N	AEFDGBI	0.086672	0.17573	N	-0.901830607608241	0.10800	0.5178586	-0.948613076643019	0.10955	0.5551496	0.986378956837792	0.31052	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.7	0.015	0.13421	-0.007000	0.12747	-2.696000	0.03457	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3286:0.0:0.6714	7.666	0.27595	824	0.40336	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	52.46	84	chr1	246850179	.	C	G	52.46	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-4.875e+00;DP=2009;ExcessHet=0.0000;FS=169.546;InbreedingCoeff=-0.0442;MLEAC=1;MLEAF=0.025;MQ=59.95;MQRankSum=-1.684e+00;QD=0.33;ReadPosRankSum=1.43;SOR=7.568	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1062	19	0	1	1
chr1	246850241	246850241	T	C	exonic	AHCTF1	.	nonsynonymous SNV	AHCTF1:NM_001323342:exon33:c.A5765G:p.D1922G	.	.	425	1071	26	0	0	26	0.0119926	.	.	2812929	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.29	T	0.01	B	0.009	B	0.112	N	1.000	N	1.32	L	1.37	T	-1.040	T	0.062	T	0.12	1.333	10.37	2.11	0.413	0.919	5.419	0.010	0.0107291142019	0.0032	0.000798722	0.0033	0.0010	0.0015	0	0.0008	0.0046	0.0066	0.0035	0.0032406	501	154602	rs142603415	0.0044	0.0044	0.0043	0.0045	0.0121	0.0043	0.0043	0.0099	0.0090	0.0014	0.0019	0.0059	0	0.0010	0.0121	0.0048	0.0047	0.0043	0.0031	0.0031	0.0032	0.0029	0.0049	0.0028	0.0027	0.0044	0.0043	0.0015	0	0.0012	0.0040	0.0002	0.0006	0.0102	0.0049	0.0085	0.0023	0.105	0.29823	T	0.12	0.35970	T	0.002	0.09854	B	0.004	0.10090	B	0.111718	0.19388	N	0.534254	1	0.08975	N	2.075	0.57047	M	1.36	0.34452	T	-1.57	0.37955	N	0.148	0.15046	-1.0400	0.17313	T	0.062	0.25780	T	10	0.0028435588	0.00045	T	0.010729	0.27599	T	0.010	0.01040	.	.	0.184605227958	0.18053	0.16709200342744523	0.16629	0.327356970608	0.34875	0.257035255432	0.04544	T	0.152442	0.49284	T	-0.56379	0.00241	T	-0.576082	0.14896	T	0.00445664915698034	0.00048	T	0.474753	0.14169	T	0.075094275	0.16896	0.057518344	0.10469	0.075094275	0.16896	0.057518344	0.10469	-4.57	0.31792	T	.	.	0.090	0.12655	B	.;.;.	.;.;.	1.318808	0.17227	13.04	0.9066290190613534	0.19914	0.17733	0.19964	N	AEFDGBI	0.076501	0.15390	N	-0.792633561883497	0.13500	0.6655449	-0.789202850408164	0.14759	0.7728982	0.991682478203903	0.32573	0.75658	0.98901	0	0.724815	0.89359	0	0.724815	0.87919	0	0.656636	0.63459	0	.	.	5.7	2.11	0.26299	1.100000	0.30637	0.194000	0.15776	0.651000	0.53179	0.042000	0.21073	0.000000	0.08366	0.050000	0.15192	0.0:0.1456:0.2791:0.5753	5.419	0.15689	824	0.40336	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1410.98	36	chr1	246850241	.	T	C	1410.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.519;DP=972;ExcessHet=0.0000;FS=4.275;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.92;MQRankSum=0.855;QD=10.61;ReadPosRankSum=1.58;SOR=1.088	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1062	20	0	1	0
chr1	246850274	246850274	A	G	exonic	AHCTF1	.	nonsynonymous SNV	AHCTF1:NM_001323342:exon33:c.T5732C:p.L1911S	.	.	432	1087	2	1	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.383	B	0.095	B	0.900	N	1.000	N	1.995	M	1.39	T	-1.011	T	0.076	T	0.234	0.590	7.181	0.671	0.104	0.896	9.081	0.065	0.0137530053531	7.7e-05	0.000599042	0.0009	0	0.0010	0	0	0.0008	0	0.0025	0.0007568	117	154602	rs184863324	0.0005	0.0005	0.0004	0.0006	0.0066	0.0004	0.0004	0.0049	0.0044	0.0001	0.0011	0.0013	0	0	0.0066	0.0003	0.0006	0.0023	0.0005	0.0005	0.0005	0.0005	0.0009	0.0004	0.0004	0.0006	0.0004	0.0001	0	0.0009	0.0012	0	0	0.0068	0.0006	0.0014	0.0008	0.074	0.34621	T	0.028	0.54934	D	0.112	0.26290	B	0.029	0.21540	B	0.900215	0.08625	N	0.951147	1	0.08975	N	1.97	0.53315	M	1.38	0.34050	T	-1.23	0.31170	N	0.288	0.32591	-1.0107	0.26698	T	0.076	0.30366	T	10	0.0046342313	0.00097	T	0.013753	0.33388	T	0.065	0.18881	.	.	0.23798241625	0.23396	0.2571331824009595	0.25627	0.358014662465	0.37514	0.275121033192	0.06822	T	0.140199	0.47462	T	-0.506319	0.00527	T	-0.505617	0.21765	T	0.0248030437385548	0.01247	T	0.49905	0.15565	T	0.11379467	0.26871	0.050260846	0.07854	0.11379467	0.26870	0.050260846	0.07853	-2.85	0.08653	T	.	.	0.108	0.20625	B	.;.;.	.;.;.	1.463171	0.18861	13.96	0.95086128041050377	0.26145	0.18594	0.20324	N	AEDGBI	0.070238	0.13934	N	-0.723864384444986	0.15352	0.772952	-0.739061386891325	0.15991	0.8438158	0.987311152581506	0.31235	0.75658	0.98901	0	0.724815	0.89359	0	0.724815	0.87919	0	0.656636	0.63459	0	.	.	5.7	0.671	0.17097	0.826000	0.27061	0.873000	0.22330	0.740000	0.86194	0.005000	0.17040	0.000000	0.08366	0.887000	0.42601	0.7297:0.0:0.2703:0.0	9.081	0.35713	824	0.40336	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1856.98	36	chr1	246850274	.	A	G	1856.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.43;DP=883;ExcessHet=0.0000;FS=7.430;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.86;MQRankSum=0.00;QD=12.90;ReadPosRankSum=-1.033e+00;SOR=1.166	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1062	20	0	1	0
chr1	246850284	246850284	T	C	exonic	AHCTF1	.	nonsynonymous SNV	AHCTF1:NM_001323342:exon33:c.A5722G:p.S1908G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.041	B	0.027	B	0.192	N	1.000	N	1.645	L	1.46	T	-1.030	T	0.058	T	0.065	0.566	7.058	-0.736	-0.137	0.037	8.213	0.049	0.00845439933968	.	0.000199681	2.481e-05	0	0	0	0	4.507e-05	0	0	2.59e-05	4	154602	rs556728227	1.163e-05	1.163e-05	1.089e-05	1.238e-05	0.0005	7.09e-06	5.79e-06	0.0001	7.55e-05	0	0	3.827e-05	0	0	0.0005	1.079e-05	1.656e-05	0	6.564e-06	6.561e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.292	0.14894	T	0.438	0.13403	T	0.002	0.09854	B	0.004	0.10090	B	0.192303	0.16814	N	0.631744	1	0.08975	N	2.215	0.62545	M	1.46	0.32238	T	-1.36	0.33798	N	0.176	0.18920	-1.0305	0.20292	T	0.058	0.24354	T	10	0.026807249	0.00839	T	0.008454	0.22357	T	0.049	0.13647	0.284	0.24121	0.390913227754	0.38705	0.13992800448098444	0.13915	0.299827209354	0.32349	0.251892089844	0.03970	T	0.103445	0.41211	T	-0.337324	0.05576	T	-0.658673	0.08356	T	0.0601314868042542	0.07190	T	0.570643	0.20320	T	0.08352823	0.19292	0.050494667	0.07936	0.08352823	0.19291	0.050494667	0.07935	-3.66	0.18729	T	.	.	0.082	0.08754	B	.;.;.	.;.;.	1.078203	0.14608	11.17	0.94760743360606758	0.25470	0.13548	0.17918	N	AEFDGBI	0.079973	0.16163	N	-0.779027966621201	0.13858	0.6857737	-0.794761865602009	0.14623	0.7650374	0.986966286311861	0.31159	0.75658	0.98901	0	0.724815	0.89359	0	0.724815	0.87919	0	0.656636	0.63459	0	.	.	5.81	-0.736	0.10572	0.091000	0.14885	-0.207000	0.10889	0.651000	0.53179	0.034000	0.20669	0.000000	0.08366	0.948000	0.49324	0.0:0.1231:0.5237:0.3533	8.213	0.30657	824	0.40336	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1445.98	36	chr1	246850284	.	T	C	1445.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.071;DP=852;ExcessHet=0.0000;FS=4.685;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.31;MQRankSum=-1.982e+00;QD=13.39;ReadPosRankSum=0.280;SOR=0.390	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1062	20	0	1	0
chr1	246857811	246857811	T	C	exonic	AHCTF1	.	nonsynonymous SNV	AHCTF1:NM_001323342:exon30:c.A4136G:p.N1379S	.	.	.	.	.	.	.	.	.	.	.	2271388	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.76	T	0.039	B	0.023	B	0.000	U	1.000	N	0.69	N	1.59	T	-1.056	T	0.044	T	0.013	-1.640	0.013	1.16	0.317	0.334	2.749	0.068	0.00290991114503	.	.	2.513e-05	0.0002	0	0	0	1.528e-05	0	0	1.94e-05	3	154602	rs780521481	1.715e-05	1.984e-05	1.503e-05	1.93e-05	6.038e-05	1.178e-05	9.95e-06	1.217e-05	1.033e-05	6.038e-05	0	0	0	0	0	1.894e-05	3.321e-05	0	3.285e-05	3.283e-05	3.854e-05	2.689e-05	4.825e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	4.825e-05	0	0	0	0	0	0	4.409e-05	0	0	0.901	0.02430	T	0.618	0.07493	T	0.039	0.21116	B	0.023	0.19966	B	0.000000	0.00162	U	53.005000	1	0.08975	N	-0.14	0.04484	N	1.59	0.28836	T	0.16	0.05217	N	0.031	0.02964	-1.0563	0.12698	T	0.044	0.18989	T	10	0.03421524	0.01622	T	0.00291	0.06162	T	0.068	0.19811	.	.	0.206203607746	0.20212	0.0380572177117647	0.03751	0.195364994864	0.21872	0.24326646328	0.03091	T	0.02449	0.18493	T	-0.548411	0.00298	T	-0.788863	0.02196	T	0.00736574585087443	0.00085	T	0.454355	0.12956	T	0.029061588	0.02342	0.022067534	0.00240	0.029061588	0.02341	0.022067534	0.00240	-2.696	0.07269	T	.	.	0.083	0.09143	B	.;.;.	.;.;.	-0.357513	0.02376	0.261	0.21568647802658955	0.00827	0.03594	0.08818	N	AEFBI	0.038066	0.05333	N	-1.18802761590112	0.05181	0.2355502	-1.15917182429936	0.06605	0.3184715	7.44245336226961E-5	0.04552	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.93	1.16	0.19936	0.211000	0.17268	0.324000	0.17215	-0.878000	0.02484	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2555:0.0:0.3377:0.4068	2.749	0.04951	824	0.40336	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	968.98	34	chr1	246857811	.	T	C	968.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.520e-01;DP=780;ExcessHet=0.0000;FS=3.083;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=1.57;SOR=0.393	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1301	20	0	1	0
chr1	246904025	246904025	T	C	exonic	AHCTF1	.	nonsynonymous SNV	AHCTF1:NM_001323342:exon7:c.A890G:p.D297G	.	.	448	1072	2	0	0	2	0.000931966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	1.0	D	0.975	D	0.000	D	1.000	D	0.625	N	1.94	T	-1.091	T	0.077	T	0.866	4.396	23.3	5.37	2.027	7.503	15.367	0.381	0.0265495705468	7.7e-05	0.000599042	0.0009	0	0.0012	0	0	0.0007	0	0.0029	0.0008021	124	154602	rs199635904	0.0005	0.0005	0.0004	0.0006	0.0068	0.0005	0.0004	0.0051	0.0045	0.0001	0.0009	0.0013	0	0	0.0068	0.0003	0.0007	0.0030	0.0005	0.0005	0.0004	0.0005	0.0010	0.0004	0.0003	0.0006	0.0005	0.0001	0	0.0010	0.0012	0	0	0.0068	0.0005	0.0014	0.0010	0.022	0.48642	D	0.017	0.60337	D	0.997	0.90584	D	0.957	0.73362	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	0.895	0.22405	L	1.94	0.22678	T	-2.29	0.50992	N	0.873	0.87049	-1.0905	0.05449	T	0.077	0.30889	T	10	0.014127195	0.00298	T	0.02655	0.49448	D	0.381	0.69863	.	.	0.373217324921	0.36936	0.5013343581553568	0.50055	0.982308939305	0.73784	0.664956688881	0.62118	T	0.243691	0.61267	T	-0.162778	0.26334	T	-0.0105862	0.69646	D	0.0681808527643667	0.08394	T	0.940706	0.77799	D	0.41880488	0.62012	0.48441976	0.70154	0.41880488	0.62012	0.48441976	0.70155	-8.325	0.63264	D	.	.	0.287	0.58866	B	.;.;.	.;.;.	5.022920	0.83484	28.1	0.99868667703540004	0.94637	0.98722	0.86019	D	AEFBI	0.861971	0.78015	D	0.499297116760641	0.67048	5.03014	0.544816754093947	0.71037	5.594322	0.999786140440102	0.43007	0.475973	0.10046	0	0.546412	0.12157	0	0.670488	0.60580	0	0.508809	0.08732	0	.	.	5.37	5.37	0.76949	7.481000	0.80171	7.871000	0.71963	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	15.367	0.74250	738	0.53389	.;.;ELYS, beta-propeller domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	660.98	39	chr1	246904025	.	T	C	660.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.330e-01;DP=808;ExcessHet=0.0000;FS=1.044;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.80;ReadPosRankSum=0.845;SOR=0.473	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1121	20	0	1	0
chr1	246931315	246931315	G	C	exonic	AHCTF1	.	nonsynonymous SNV	AHCTF1:NM_015446:exon1:c.C13G:p.R5G,	.	.	.	.	.	.	.	.	.	.	.	2458055	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	0.69	N	1.49	T	-1.014	T	0.037	T	0.021	2.644	14.80	-6.94	-3.058	-1.698	0.803	0.012	0.00446249512317	.	.	0.0007	0	0	0	0	0	0	0.0011	8.41e-05	13	154602	rs776797004	7.459e-05	7.114e-05	3.395e-05	0.0001	0.0012	6.27e-05	5.859e-05	0.0010	0.0009	0	0	0	0	0	0	6.495e-06	0.0001	0.0012	3.286e-05	3.281e-05	1.286e-05	5.377e-05	0.0008	1.261e-05	7.98e-06	0.0003	0.0002	0	0	6.539e-05	0	0	0	0	0	0	0.0008	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.19781	N	.	.	.	1.49	0.31470	T	-0.07	0.08033	N	0.066	0.03841	-1.0136	0.25784	T	0.037	0.16160	T	7	0.017407179	0.00371	T	0.004462	0.10937	T	0.012	0.01476	0.302	0.27003	0.0675242888579	0.06100	0.4489621501189831	0.44814	0.570592587147	0.53215	0.528731107712	0.42855	T	.	.	.	-0.67282	0.00053	T	-0.784788	0.02312	T	0.0307818163610412	0.02111	T	0.348865	0.07732	T	.	.	.	.	.	.	.	.	-3.155	0.11939	T	.	.	0.095	0.14797	B	.	.	-0.157918	0.03313	0.576	0.98317853380192155	0.40212	0.01764	0.05543	N	ALL	0.024328	0.01488	N	-1.14300800448397	0.05896	0.2699995	-1.39853718808519	0.03268	0.1520837	1.0	0.98316	0.524318	0.21684	1	0.218748	0.04544	0	0.231153	0.04653	2	0.492483	0.08430	1	.	.	3.47	-6.94	0.01475	-1.670000	0.02058	-1.514000	0.05268	-0.307000	0.06116	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3758:0.261:0.2143:0.1489	0.803	0.01010	695	0.58372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	876.98	39	chr1	246931315	.	G	C	876.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.819e+00;DP=748;ExcessHet=0.0000;FS=1.123;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.12;ReadPosRankSum=0.453;SOR=0.505	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	20	0	1	0
chr1	247038425	247038425	C	G	exonic;splicing	ZNF670;ZNF670	NM_001204220:exon4:c.192-1G>C	nonsynonymous SNV	ZNF670:NM_033213:exon4:c.G194C:p.S65T,	.	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.167	B	0.029	B	.	.	1.000	N	0.085	N	3.45	T	-0.913	T	0.008	T	0.056	0.511	6.770	0.427	0.458	0.113	.	0.058	0.00193859453515	0.0002	0.000998403	0.0004	0	0	0	0	0.0001	0	0.0031	0.0003816	59	154602	rs148957284	0.0003	0.0003	0.0002	0.0004	0.0037	0.0003	0.0003	0.0034	0.0032	6.065e-05	0	0	0	0	0.0023	8.408e-05	0.0004	0.0037	0.0002	0.0002	0.0002	0.0003	0.0037	0.0001	0.0001	0.0024	0.0020	7.219e-05	0	0	0	0	0	0.0102	0.0001	0	0.0037	0.113	0.28772	T	0.161	0.31326	T	0.167	0.28604	B	0.029	0.21540	B	.	.	.	.	0.999856	0.20048	N	1.61	0.41143	L	3.45	0.05311	T	-1.53	0.37178	N	0.061	0.03283	-0.9129	0.46492	T	0.008	0.02884	T	8	0.0060248673	0.00135	T	0.001939	0.03456	T	0.058	0.16647	.	.	0.143124449307	0.13826	0.01951464374623035	0.01905	0.033061313921	0.03458	0.374222308397	0.21435	T	0.054851	0.29842	T	-0.701106	0.00036	T	-0.782288	0.02385	T	0.663686335086823	0.39058	D	0.00688878	0.00029	T	0.16061759	0.36015	0.20647158	0.44862	0.16061759	0.36014	0.20647158	0.44861	-7.042	0.54339	T	.	.	0.094	0.14660	B	.	.	1.335240	0.17408	13.15	0.81733374626007138	0.13832	0.00467	0.02241	N	AEFBCI	0.023546	0.01328	N	-1.0569764248023	0.07451	0.3461784	-1.09070771032004	0.07882	0.3852218	2.5239778679327E-4	0.06190	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	0.427	0.427	0.15704	-1.525000	0.02335	.	.	0.434000	0.20985	0.006000	0.17386	0.000000	0.08366	0.824000	0.38829	.	.	.	567	0.70732	Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1179.98	41	chr1	247038425	.	C	G	1179.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.197e+00;DP=809;ExcessHet=0.0000;FS=2.535;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.39;ReadPosRankSum=0.196;SOR=1.174	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr1	247159054	247159054	-	C	exonic	ZNF124	.	frameshift insertion	ZNF124:NM_001243740:exon3:c.169dupG:p.E57Gfs*6	.	.	432	1087	2	1	0	4	0.00183655	.	.	2812933	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	3.015e-05	0	0.0010	0.0001294	20	154602	rs558305005	0.0001	0.0001	7.227e-05	0.0001	0.0010	9.62e-05	9.099e-05	0.0009	0.0008	0	9.1e-05	0	0	1.874e-05	0.0002	5.219e-05	0.0001	0.0010	0.0001	0.0001	0.0001	8.053e-05	0.0015	7.085e-05	5.742e-05	0.0007	0.0005	7.215e-05	0	0.0003	0	0	0	0	4.41e-05	0	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	475.94	40	chr1	247159054	.	T	TC	475.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.390e-01;DP=746;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=-2.700e-02;SOR=0.551	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr1	247257089	247257089	T	C	exonic	VN1R5	.	unknown	UNKNOWN,	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1875.98	85	chr1	247257089	.	T	C	1875.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.057;DP=1480;ExcessHet=0.0000;FS=1.467;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.50;ReadPosRankSum=1.72;SOR=0.851	GT:AD:DP:GQ:PL	0/0:94,0:94:99:0,120,1800	20	0	1	0
chr1	247424041	247424041	G	A	exonic	NLRP3	.	nonsynonymous SNV	NLRP3:NM_001127461:exon4:c.G592A:p.V198M	CINCA syndrome, Autosomal dominant;Familial cold-induced inflammatory syndrome 1, Autosomal dominant;Muckle-Wells syndrome, Autosomal dominant	.	0	1500	22	0	0	22	0.00727995	.	.	19410	Familial_cold_autoinflammatory_syndrome_1|Familial_amyloid_nephropathy_with_urticaria_AND_deafness|Chronic_infantile_neurological,_cutaneous_and_articular_syndrome|not_specified|Autoinflammatory_syndrome|not_provided|Hearing_loss,_autosomal_dominant_34,_with_or_without_inflammation|Keratitis_fugax_hereditaria|Cryopyrin_associated_periodic_syndrome|Familial_cold_autoinflammatory_syndrome|NLRP3-related_disorder|Kidney_disorder	MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100,Orphanet:47045|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900,Orphanet:575|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115,Orphanet:1451|MedGen:CN169374|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:C3661900|MONDO:MONDO:0033261,MedGen:C4521680,OMIM:617772|MONDO:MONDO:0007849,MedGen:C1835697,OMIM:148200,Orphanet:647815|MONDO:MONDO:0016168,MedGen:C2316212,Orphanet:208650|MONDO:MONDO:0018768,MedGen:C0343068,OMIM:PS120100,Orphanet:47045|.|Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.12	T	0.105	B	0.016	B	0.234	N	0.000	A	-0.805	N	-2.33	D	-0.730	T	0.212	T	0.204	-0.442	1.948	-7.37	-1.644	-0.222	9.296	0.222	.	0.0068	0.00399361	0.0083	0.0013	0.0038	0.0001	0.0253	0.0099	0.0156	0.0060	0.0078912	1220	154602	rs121908147	0.0085	0.0085	0.0086	0.0085	0.0087	0.0084	0.0083	0.0085	0.0085	0.0011	0.0042	0.0115	2.519e-05	0.0238	0.0052	0.0087	0.0078	0.0063	0.0073	0.0073	0.0066	0.0079	0.0087	0.0069	0.0068	0.0081	0.0079	0.0013	0	0.0066	0.0130	0.0002	0.0255	0.0034	0.0087	0.0080	0.0054	0.155	0.24183	T	0.226	0.25748	T	0.069	0.23796	B	0.016	0.17743	B	0.234251	0.03538	N	1.537910	2.97861e-11	0.08975	A	.	.	.	-2.33	0.87910	D	-0.22	0.12283	N	0.07	0.04547	-0.7300	0.58964	T	0.212	0.57281	T	9	0.03694403	0.02021	T	.	.	.	0.222	0.51872	.	.	0.513846082701	0.51024	0.22615389081437023	0.22530	0.460099396149	0.45567	0.299927890301	0.10390	T	0.384477	0.74610	T	-0.437204	0.01343	T	-0.392971	0.34203	T	0.00574209630635007	0.00063	T	0.627137	0.25952	T	0.039222877	0.05375	0.061986197	0.12055	0.029809969	0.02537	0.05537048	0.09700	-4.569	0.32045	T	.	.	0.074	0.05491	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-0.233222	0.02926	0.426	0.72672109334390289	0.10055	0.05110	0.10913	N	AEFDBI	0.073820	0.14778	N	-1.70017292574289	0.00841	0.03637804	-1.75656881570094	0.00909	0.04064689	0.999945305624792	0.47345	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.27	-7.37	0.01266	-0.254000	0.08801	.	.	-0.633000	0.04490	0.000000	0.06391	0.000000	0.08366	0.315000	0.24854	0.7268:0.0:0.1551:0.1181	9.296	0.36974	889	0.27310	.;NACHT-associated domain|NACHT-associated domain;NACHT-associated domain|NACHT-associated domain;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	7869.98	43	chr1	247424041	.	G	A	7869.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=1403;ExcessHet=0.0000;FS=2.429;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.57;ReadPosRankSum=1.86;SOR=0.607	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1210	20	0	1	0
chr1	247425078	247425078	C	G	exonic	NLRP3	.	nonsynonymous SNV	NLRP3:NM_001127461:exon4:c.C1629G:p.N543K	CINCA syndrome, Autosomal dominant;Familial cold-induced inflammatory syndrome 1, Autosomal dominant;Muckle-Wells syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.017	B	0.011	B	0.150	N	1.000	N	0.345	N	-2.88	D	-0.510	T	0.510	D	0.194	-2.247	0.004	-1.1	-0.211	-0.493	3.616	0.198	0.0463631286806	.	.	1.653e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs376057645	4.104e-06	4.104e-06	2.722e-06	5.5e-06	5.797e-05	1.48e-06	9.7e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	8.993e-07	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.408	0.12345	T	1.0	0.01155	T	0.014	0.17573	B	0.011	0.15521	B	0.149887	0.02954	N	1.643560	1	0.08975	N	.	.	.	-2.88	0.91533	D	-0.88	0.27463	N	0.062	0.04547	-0.5098	0.68294	T	0.510	0.81580	D	10	0.08747858	0.14971	T	0.046363	0.62424	D	0.198	0.48105	0.385	0.40460	0.933406561394	0.93271	0.2683728803933602	0.26750	0.528334658699	0.50426	0.320745438337	0.13535	T	0.175223	0.52473	T	-0.239784	0.15375	T	-0.379555	0.35774	T	0.0442914664745331	0.04474	T	0.465553	0.13627	T	0.080931626	0.18571	0.045592602	0.06169	0.080931626	0.18570	0.045592602	0.06168	-2.973	0.09893	T	.	.	0.082	0.12228	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-1.088085	0.00655	0.018	0.35121140674622975	0.02187	0.04589	0.10240	N	AEFBCI	0.124040	0.23992	N	-1.47191414200669	0.02050	0.09012462	-1.51110450862655	0.02258	0.1035872	0.991353819625916	0.32460	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	3.33	-1.1	0.09367	-1.579000	0.02227	.	.	-0.834000	0.02848	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4383:0.1901:0.3716	3.616	0.07621	889	0.27310	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	8343.98	215	chr1	247425078	.	C	G	8343.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.12;DP=1822;ExcessHet=0.0000;FS=1.722;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=-4.750e-01;SOR=0.647	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr1	247444671	247444671	C	T	exonic	NLRP3	.	nonsynonymous SNV	NLRP3:NM_183395:exon7:c.C2513T:p.T838M	CINCA syndrome, Autosomal dominant;Familial cold-induced inflammatory syndrome 1, Autosomal dominant;Muckle-Wells syndrome, Autosomal dominant	.	0	1502	18	2	0	22	0.00727032	.	.	231492	not_specified|not_provided|NLRP3-related_disorder|Autoinflammatory_syndrome|Cryopyrin_associated_periodic_syndrome|Chronic_infantile_neurological,_cutaneous_and_articular_syndrome|Familial_cold_autoinflammatory_syndrome_1|Familial_amyloid_nephropathy_with_urticaria_AND_deafness	MedGen:CN169374|MedGen:C3661900|.|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0016168,MedGen:C2316212,Orphanet:208650|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115,Orphanet:1451|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100,Orphanet:47045|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900,Orphanet:575	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.994	D	0.004	N	0.769	D	3.31	M	0.37	T	0.140	D	0.415	T	0.657	3.758	19.08	4.71	2.547	4.808	13.896	0.223	0.0559250876732	0.0007	0.00179712	0.0012	0	0.0027	0	0	0.0010	0.0011	0.0030	0.0011837	183	154602	rs139814109	0.0009	0.0009	0.0009	0.0010	0.0038	0.0009	0.0009	0.0035	0.0034	0.0001	0.0019	0.0033	7.557e-05	0.0001	0.0019	0.0007	0.0011	0.0038	0.0007	0.0007	0.0006	0.0008	0.0060	0.0006	0.0006	0.0043	0.0037	9.628e-05	0	0.0003	0.0040	0	0	0	0.0008	0.0014	0.0060	0.003	0.78490	D	0.003	0.79402	D	1.0	0.90584	D	0.988	0.82059	D	0.004001	0.34245	N	0.135690	0.51581	0.34127	D	.	.	.	0.37	0.57729	T	-4.99	0.84387	D	0.499	0.56919	0.140	0.84880	D	0.415	0.76225	T	10	0.014665842	0.00308	T	0.055925	0.66415	D	0.223	0.52023	.	.	0.953123744604	0.95262	0.8017135601145453	0.80125	1.32499314031	0.83536	0.343625575304	0.16979	T	0.751276	0.93186	D	-0.21955	0.18055	T	-0.0889828	0.64239	T	0.0816429654366961	0.10196	T	0.879912	0.60954	D	0.33443165	0.55831	0.3183049	0.57799	0.3201693	0.54654	0.24169135	0.49571	-8.089	0.64720	D	.	.	0.327	0.57167	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.320669	0.66120	24.9	0.99909413192448038	0.97949	0.95640	0.65534	D	AEFBI	0.591703	0.58770	D	0.782536833620229	0.85002	8.448175	0.686207239297608	0.81330	7.501698	0.999999810104876	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.71	4.71	0.59010	5.410000	0.66123	.	.	0.589000	0.31548	0.999000	0.42656	0.999000	0.35428	0.648000	0.32638	0.0:1.0:0.0:0.0	13.896	0.63276	867	0.32089	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	2419.98	36	chr1	247444671	.	C	T	2419.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.845;DP=957;ExcessHet=0.0000;FS=1.740;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=-2.570e-01;SOR=0.827	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1321	20	0	1	0
chr1	247605721	247605721	A	G	exonic	OR2G3	.	nonsynonymous SNV	OR2G3:NM_001001914:exon1:c.A136G:p.I46V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.075	B	0.063	B	0.144	U	1.000	N	2.3	M	6.19	T	-0.985	T	0.004	T	0.132	0.918	8.736	2.38	1.656	-0.091	7.474	0.043	0.00125928518304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.078	0.42261	T	0.075	0.24198	B	0.063	0.27082	B	0.143702	0.18202	U	0.383853	1	0.08975	N	1.795	0.47270	L	6.19	0.00575	T	-0.76	0.21215	N	0.053	0.02462	-0.9852	0.33784	T	0.004	0.01159	T	10	0.07049534	0.10262	T	0.001259	0.01708	T	0.043	0.11576	0.425	0.47021	0.43656330218	0.43278	0.07785681555899948	0.07721	0.0513725218278	0.05653	0.233400076628	0.02229	T	0.005795	0.05238	T	-0.327857	0.06275	T	-0.70872	0.05361	T	0.0833905339241028	0.10415	T	0.623338	0.24021	T	0.13671778	0.31682	0.11759155	0.28387	0.13671778	0.31682	0.11759155	0.28386	-4.792	0.34498	T	.	.	0.115	0.22861	B	.	.	0.669848	0.10384	7.108	0.81902043633589383	0.13918	0.01074	0.03973	N	AEFI	0.045278	0.07387	N	-0.615216073637153	0.18487	0.9601671	-0.701323397649392	0.16928	0.8977724	1.4683354626854E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.64	2.38	0.28415	-1.921000	0.01661	.	.	0.624000	0.51786	0.000000	0.06391	0.000000	0.08366	0.113000	0.18872	0.8067:0.0:0.0:0.1933	7.474	0.26533	900	0.24599	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	139.06	34	chr1	247605721	.	A	G	139.06	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.533e+00;DP=1349;ExcessHet=0.0000;FS=131.245;InbreedingCoeff=-0.0298;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.61;ReadPosRankSum=1.80;SOR=6.357	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1289	20	0	1	0
chr1	247606052	247606052	C	T	exonic	OR2G3	.	nonsynonymous SNV	OR2G3:NM_001001914:exon1:c.C467T:p.S156F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.94	P	0.912	D	0.003	U	1.000	N	3.265	M	0.91	T	-0.750	T	0.272	T	0.547	1.179	9.796	2.88	0.942	-0.271	9.383	0.128	0.00487272123061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.94	0.52768	P	0.912	0.64797	D	0.003028	0.35542	U	0.000000	1	0.08975	N	2.98	0.85499	M	0.91	0.44856	T	-5.3	0.84387	D	0.169	0.17966	-0.7498	0.57946	T	0.272	0.64401	T	10	0.36200452	0.52807	T	0.004873	0.12224	T	0.128	0.35103	0.705	0.84145	0.590995569847	0.58776	0.28999490554351065	0.28912	0.356607788428	0.37403	0.289806485176	0.08894	T	0.006911	0.06335	T	-0.0855743	0.38805	T	-0.360698	0.37971	T	0.994767665863037	0.86260	D	0.538446	0.18153	T	0.84093624	0.86675	0.766928	0.86234	0.84093624	0.86676	0.766928	0.86235	-11.556	0.82621	D	.	.	0.376	0.58197	A	.	.	2.582214	0.33479	19.35	0.99542504421667777	0.70586	0.01531	0.05040	N	AEFI	0.050604	0.08861	N	-0.232654916858836	0.31801	1.786857	-0.506160876156086	0.21985	1.191972	1.56343494544074E-4	0.05650	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.8	2.88	0.32617	-0.134000	0.10415	.	.	0.498000	0.22619	0.000000	0.06391	0.000000	0.08366	0.913000	0.44837	0.0:0.8912:0.0:0.1088	9.383	0.37487	900	0.24599	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2709.98	34	chr1	247606052	.	C	T	2709.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.49;DP=1759;ExcessHet=0.0000;FS=5.181;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.93;ReadPosRankSum=0.049;SOR=1.015	GT:AD:DP:GQ:PL	0/0:114,0:114:99:0,120,1800	20	0	1	0
chr1	247723263	247723263	G	A	exonic	OR14A2	.	nonsynonymous SNV	OR14A2:NM_001355292:exon5:c.C781T:p.P261S,	.	.	430	1086	6	0	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	.	.	.	.	0.514	U	1.000	N	.	.	8.77	T	-1.103	T	0.000	T	0.095	1.134	9.623	-4.06	-1.115	-0.739	5.810	0.036	0.000725876733462	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1012773497	1.415e-05	1.272e-05	1.536e-05	1.311e-05	0.0005	6.08e-06	4.4e-06	8.62e-05	3.585e-05	0	0	0	0	0	0.0005	6.307e-06	6.499e-05	3.186e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387	0.10945	T	0.403	0.14865	T	.	.	.	.	.	.	0.513628	0.11817	U	0.709097	1	0.08975	N	.	.	.	8.77	0.00063	T	-3.59	0.69236	D	0.072	0.04547	-1.1030	0.03747	T	0.000	0.00075	T	7	0.077682704	0.12290	T	7.26E-4	0.00472	T	0.036	0.09122	.	.	0.124217242631	0.12060	0.04454684524466763	0.04398	.	.	.	.	.	0.013727	0.11817	T	-0.508646	0.00511	T	-0.77144	0.02721	T	0.0992418015090756	0.12274	T	0.239076	0.03406	T	0.057674937	0.11508	0.08838191	0.20604	0.057674937	0.11508	0.08838191	0.20603	-3.893	0.22197	T	.	.	0.083	0.09094	B	.	.	-0.463875	0.01986	0.174	0.82288296168370023	0.14114	0.01355	0.04643	N	AEFDGHI	0.036428	0.04851	N	-0.755489488827823	0.14485	0.7219112	-0.958594338448655	0.10725	0.5419703	4.06570778021723E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.0	-4.06	0.03718	-2.031000	0.01515	.	.	0.641000	0.52212	0.000000	0.06391	0.000000	0.08366	0.973000	0.55318	0.2688:0.3656:0.3656:0.0	5.810	0.17722	958	0.09170	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2024.98	34	chr1	247723263	.	G	A	2024.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.19;DP=963;ExcessHet=0.0000;FS=4.284;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.07;ReadPosRankSum=7.000e-03;SOR=0.469	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1193	20	0	1	0
chr1	247738622	247738622	A	G	exonic	OR14K1	.	nonsynonymous SNV	OR14K1:NM_001004732:exon1:c.A8G:p.N3S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.001	U	1.000	N	.	.	-0.07	T	-0.754	T	0.252	T	0.162	2.704	15.00	3.11	1.259	2.109	10.249	0.247	0.0124673835694	.	.	8.633e-06	0	0	0	0	1.53e-05	0	0	6.5e-06	1	154602	rs751263288	9.582e-06	9.542e-06	1.403e-05	5.863e-06	2.883e-05	3.45e-06	2.26e-06	4.78e-06	1.81e-06	0	0	0	0	0	0	1.147e-05	0	2.883e-05	6.573e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.012	0.54683	D	0.0	0.92824	D	.	.	.	.	.	.	0.000892	0.41231	U	0.000000	1	0.08975	N	.	.	.	-0.07	0.63738	T	-4.43	0.77554	D	0.446	0.48411	-0.7544	0.57705	T	0.252	0.62212	T	7	0.28711534	0.46294	T	0.012467	0.31071	T	0.247	0.55478	0.532	0.64002	0.346085882481	0.34212	0.05388122422182845	0.05330	0.35392592426	0.37183	.	.	.	0.07834	0.35868	T	-0.210004	0.19379	T	-0.438802	0.28944	T	0.599449932575226	0.36378	D	0.380262	0.09172	T	0.22661717	0.45346	0.15851434	0.37013	0.22661717	0.45346	0.15851434	0.37012	-7.56	0.58031	D	.	.	0.096	0.15520	B	.	.	1.971795	0.25051	16.62	0.99499348142446475	0.67916	0.26731	0.23077	N	AEFBI	0.049879	0.08662	N	-0.337279919828391	0.27743	1.524562	-0.479262343732903	0.22725	1.235781	1.68726777540361E-4	0.05721	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.11	3.11	0.34883	1.388000	0.34048	.	.	0.717000	0.85348	0.123000	0.23227	0.601000	0.25719	0.007000	0.07825	1.0:0.0:0.0:0.0	10.249	0.42534	958	0.09170	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1680.98	33	chr1	247738622	.	A	G	1680.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.196;DP=818;ExcessHet=0.0000;FS=2.897;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=-2.470e+00;SOR=1.040	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1151	20	0	1	0
chr1	247738686	247738686	G	-	exonic	OR14K1	.	frameshift deletion	OR14K1:NM_001004732:exon1:c.72delG:p.H25Mfs*7,	.	.	432	1076	14	0	0	14	0.00646353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.000998403	0.0012	0.0001	0.0004	0	0	0.0013	0.0045	0.0032	0.0001537	4	26028	rs568673953	0.0011	0.0011	0.0010	0.0013	0.0147	0.0011	0.0010	0.0118	0.0107	0.0002	0.0005	0.0055	0	1.883e-05	0.0147	0.0008	0.0015	0.0028	0.0007	0.0007	0.0008	0.0007	0.0042	0.0006	0.0006	0.0028	0.0023	0.0001	0	0.0015	0.0058	0	0	0.0102	0.0005	0.0028	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4138.94	33	chr1	247738685	.	TG	T	4138.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=944;ExcessHet=0.0000;FS=1.559;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.42;ReadPosRankSum=0.436;SOR=0.798	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1151	20	0	1	0
chr1	247738768	247738768	C	T	exonic	OR14K1	.	nonsynonymous SNV	OR14K1:NM_001004732:exon1:c.C154T:p.R52C,	.	.	426	1062	34	0	0	34	0.0157553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	.	.	.	.	0.130	U	1.000	N	.	.	7.73	T	-0.913	T	0.000	T	0.181	1.101	9.494	-6.07	-0.937	0.502	1.914	0.055	.	0.0066	0.00279553	0.0071	0.0009	0.0027	0	0.0012	0.0110	0.0111	0.0044	0.0070633	1092	154602	rs151028061	0.0076	0.0076	0.0073	0.0078	0.0200	0.0074	0.0073	0.0165	0.0153	0.0016	0.0046	0.0077	5.545e-05	0.0022	0.0200	0.0102	0.0082	0.0050	0.0054	0.0054	0.0058	0.0049	0.0088	0.0050	0.0049	0.0082	0.0080	0.0016	0	0.0046	0.0081	0	0.0009	0.0204	0.0088	0.0043	0.0052	0.122	0.27663	T	0.091	0.40110	T	.	.	.	.	.	.	0.130435	0.18659	U	0.376625	1	0.08975	N	.	.	.	7.73	0.00343	T	-3.71	0.70674	D	0.162	0.17002	-0.9128	0.46505	T	0.000	0.00152	T	7	0.013116866	0.00279	T	.	.	.	0.055	0.15663	.	.	0.0551355673512	0.04727	0.07891345326233465	0.07826	0.0838883208807	0.09463	.	.	.	0.019488	0.15519	T	-0.644886	0.00078	T	-0.689716	0.06405	T	0.0224859296631958	0.00963	T	0.252475	0.03851	T	0.09187855	0.21540	0.07249355	0.15646	0.09187855	0.21540	0.07249355	0.15646	-6.274	0.48516	T	.	.	0.087	0.11269	B	.	.	0.586348	0.09550	6.324	0.81515835373729739	0.13724	0.02242	0.06502	N	AEFBI	0.074102	0.14843	N	-0.952447968329772	0.09637	0.4570143	-1.1980015840912	0.05943	0.2846429	1.22797413150332E-4	0.05386	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.62	-6.07	0.01976	0.201000	0.17074	.	.	-1.040000	0.01667	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4644:0.2507:0.1162:0.1687	1.914	0.03093	958	0.09170	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2598.98	33	chr1	247738768	.	C	T	2598.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.79;DP=943;ExcessHet=0.0000;FS=5.289;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=-3.050e-01;SOR=1.032	GT:AD:DP:GQ:PL	0/1:139,102:241:99:2613,0,3565	20	0	1	0
chr1	247857547	247857547	G	T	exonic	TRIM58	.	stopgain	TRIM58:NM_015431:exon1:c.G301T:p.E101X,	.	.	422	1086	14	0	0	14	0.00640439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	0.009	N	1.000	A	.	.	.	.	.	.	.	.	.	4.048	20.8	2.4	0.533	0.727	12.488	.	.	.	0.000599042	0.0090	0	0	0	0	0.0114	0	0.0238	0.0003493	54	154602	rs539377117	0.0014	0.0012	0.0013	0.0014	0.0040	0.0013	0.0013	0.0034	0.0032	8.689e-05	0.0005	0.0002	0	0.0007	0.0039	0.0014	0.0011	0.0040	0.0008	0.0008	0.0007	0.0009	0.0035	0.0007	0.0006	0.0022	0.0018	0.0002	0	0.0003	0	0	0.0004	0	0.0012	0.0014	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	0.008747	0.30686	N	0.225800	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.122	0.11340	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0921163	0.63427	D	0.357121	0.90594	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.784188	0.96858	36	0.99346496703570719	0.60412	0.68405	0.33790	D	AEFDBHCIJ	0.150607	0.27492	N	0.160084756337063	0.49291	3.131097	-0.174687774665594	0.32471	1.847651	0.999999999998253	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.578056	0.29568	0	0.584449	0.35598	0	.	.	4.34	2.4	0.28568	3.048000	0.49552	.	.	0.636000	0.52005	1.000000	0.71638	1.000000	0.68203	0.271000	0.23793	0.0:0.3608:0.6392:0.0	12.488	0.55224	958	0.09170	B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	295.98	27	chr1	247857547	.	G	T	295.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.800e-02;DP=606;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.22;ReadPosRankSum=1.14;SOR=0.724	GT:AD:DP:GQ:PL	0/1:21,15:36:99:310,0,456	20	0	1	0
chr1	247949492	247949492	G	C	exonic	OR2L8	.	nonsynonymous SNV	OR2L8:NM_001001963:exon1:c.G635C:p.G212A,	.	.	431	954	137	0	0	137	0.0669927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.001	B	0.021	B	0.447	U	1.000	N	-0.13	N	1.28	T	-1.057	T	0.035	T	0.097	-1.748	0.010	-3.61	-1.273	-1.473	5.646	0.013	0.000755472054538	.	.	9.101e-05	0.0002	0	0	0	0.0001	0	0	0.0004995	13	26028	rs200574966	0.0001	0.0061	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	3.033e-05	0	3.861e-05	2.558e-05	5.693e-05	0.0002	0.0002	0.0001	5.872e-05	0.0003	0.0084	0.0003	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0.0004	0	0.0002	9.756e-05	0	7.505e-05	0.0015	0.0004	.	.	.	.	.	.	0.001	0.07471	B	0.021	0.19346	B	0.446818	0.12558	U	0.592578	1	0.08975	N	0.175	0.09039	N	.	.	.	.	.	.	.	.	-1.0572	0.12465	T	0.035	0.15247	T	10	0.05015081	0.04707	T	7.55E-4	0.00529	T	.	.	.	.	.	.	0.0971041359842281	0.09641	.	.	0.196209579706	0.00355	T	0.00371	0.03121	T	-0.33051	0.06074	T	-0.712531	0.05166	T	0.0468932795453433	0.04946	T	0.0759924	0.00559	T	0.051389877	0.09430	0.047986154	0.07030	0.051389877	0.09429	0.047986154	0.07030	-3.461	0.15890	T	.	.	0.070	0.03588	B	.	.	-0.753225	0.01203	0.059	0.75514092856022963	0.11104	0.00220	0.01242	N	AEFI	0.015257	0.00282	N	-1.56839154189077	0.01430	0.06237095	-1.65869361444473	0.01331	0.0600902	6.44935728979901E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.8	-3.61	0.04264	-1.360000	0.02706	.	.	-1.316000	0.01230	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2703:0.1902:0.5394	5.646	0.16867	946	0.12043	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	96.06	244	chr1	247949492	.	G	C	96.06	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.03;DP=4391;ExcessHet=0.0000;FS=26.825;InbreedingCoeff=-0.0294;MLEAC=1;MLEAF=0.024;MQ=52.08;MQRankSum=-3.821e+00;QD=0.36;ReadPosRankSum=-3.328e+00;SOR=2.923	GT:AD:DP:GQ:PL	0/0:223,0:223:99:0,120,1800	20	0	1	0
chr1	247966002	247966002	T	C	exonic	OR2AK2	.	nonsynonymous SNV	OR2AK2:NM_001004491:exon1:c.T671C:p.L224P,	.	.	430	1067	24	1	0	26	0.012037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.992	D	.	.	1.000	N	1.595	L	0.89	T	-0.993	T	0.171	T	0.268	1.478	10.89	1.33	0.372	-0.642	5.721	0.066	0.00629404517263	0.0010	0.00159744	0.0023	0.0006	0.0017	0	0.0003	0.0027	0.0046	0.0042	0.0021733	336	154602	rs143777155	0.0027	0.0027	0.0027	0.0028	0.0123	0.0027	0.0026	0.0100	0.0092	0.0004	0.0012	0.0053	0.0001	0.0002	0.0123	0.0028	0.0038	0.0046	0.0017	0.0017	0.0018	0.0016	0.0043	0.0015	0.0015	0.0029	0.0024	0.0007	0	0.0011	0.0055	0	0.0005	0.0170	0.0023	0.0043	0.0043	.	.	.	.	.	.	1.0	0.90584	D	0.992	0.80445	D	.	.	.	.	1	0.08975	N	1.29	0.32370	L	.	.	.	.	.	.	.	.	-0.9933	0.31749	T	0.171	0.51245	T	9	0.018920064	0.00416	T	0.006294	0.16522	T	0.066	0.19193	.	.	0.548865971634	0.54542	0.5532750783688914	0.55253	0.279006609855	0.30376	0.22066795826	0.01349	T	0.015167	0.12771	T	-0.546682	0.00305	T	-0.557644	0.16599	T	0.0761684574638909	0.09491	T	0.546745	0.18722	T	0.6006469	0.72726	0.48425713	0.70144	0.6006469	0.72727	0.48425713	0.70145	-5.041	0.37282	T	.	.	0.166	0.36594	B	.;.	.;.	2.478522	0.31957	18.90	0.98584754275036668	0.43284	0.01664	0.05329	N	AEFBI	0.055755	0.10250	N	-0.342586406668038	0.27546	1.512148	-0.611833345202242	0.19189	1.028438	0.00198231628040838	0.09061	0.487112	0.14033	0	0.232529	0.04832	2	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.48	1.33	0.20958	-0.336000	0.07908	.	.	0.475000	0.22001	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.1483:0.0:0.8517	5.721	0.17255	940	0.13648	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	6284.08	113	chr1	247966002	.	T	C	6284.08	.	AC=2;AF=0.048;AN=42;DP=1066;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.79;SOR=0.904	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	1	0	0
chr1	248061345	248061345	C	T	exonic	OR2L3	.	nonsynonymous SNV	OR2L3:NM_001004687:exon1:c.C664T:p.L222F,	.	.	436	1072	14	0	0	14	0.00648749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.051	B	0.17	B	0.467	N	1.000	N	0.665	N	1.16	T	-0.989	T	0.060	T	0.074	-0.290	2.614	-0.412	0.186	-4.305	1.221	0.017	0.000984549290668	.	.	0.0006	0.0020	0.0003	0.0009	0	0.0005	0	0.0002	3.84e-05	1	26028	rs267598494	1.368e-06	7.798e-05	0	2.751e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	1.317e-05	1.97e-05	2.573e-05	0	6.557e-05	2.19e-06	8.2e-07	.	.	0	0	6.557e-05	0	0	0	0	1.471e-05	0	0	0.223	0.18757	T	0.29	0.21011	T	0.051	0.22415	B	0.17	0.35299	B	0.467142	0.04905	N	1.498970	1	0.08975	N	1.225	0.30651	L	1.16	0.38073	T	-1.77	0.41809	N	0.026	0.00527	-0.9886	0.32953	T	0.060	0.25018	T	10	0.02363199	0.00624	T	9.85E-4	0.01026	T	0.017	0.02790	.	.	0.163833314356	0.15978	0.08157046419375427	0.08092	0.191262218159	0.21451	0.220514073968	0.01340	T	0.007414	0.06818	T	-0.343008	0.05183	T	-0.730484	0.04306	T	0.0779145658016205	0.09718	T	0.130487	0.01027	T	0.07188239	0.15949	0.075451136	0.16611	0.07188239	0.15948	0.075451136	0.16610	-6.291	0.48650	T	.	.	0.1	0.18164	B	.;.;.	.;.;.	-0.009003	0.04221	1.035	0.8335356933921042	0.14680	0.00322	0.01690	N	AEFI	0.025184	0.01684	N	-1.33902880764424	0.03240	0.1443973	-1.4294856341876	0.02961	0.137235	1.75159949933668E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.05	-0.412	0.11750	-4.763000	0.00219	-20.000000	0.00162	-0.326000	0.05813	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1668:0.4114:0.1651:0.2566	1.221	0.01808	912	0.21483	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1112.98	157	chr1	248061345	.	C	T	1112.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.216e+00;DP=1045;ExcessHet=0.0000;FS=15.457;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.64;MQRankSum=-5.748e+00;QD=4.36;ReadPosRankSum=-1.180e+00;SOR=1.745	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1304	20	0	1	0
chr1	248061438	248061438	C	A	exonic	OR2L3	.	nonsynonymous SNV	OR2L3:NM_001004687:exon1:c.C757A:p.P253T,	.	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	1.0	D	0.99	D	0.008	U	1.000	N	-0.37	N	9.01	T	-0.852	T	0.000	T	0.19	-1.749	0.010	0.848	1.119	-2.979	0.768	0.059	0.001115793071	7.7e-05	0.000399361	0.0003	0	8.655e-05	0	0	0.0001	0.0011	0.0013	0.0002264	35	154602	rs368310262	0.0001	0.0001	7.623e-05	0.0002	0.0021	0.0001	0.0001	0.0012	0.0009	0	0.0002	0.0003	0	0	0.0021	3.237e-05	0.0002	0.0012	9.199e-05	9.844e-05	5.144e-05	0.0001	0.0019	5.528e-05	4.365e-05	0.0010	0.0007	0	0	6.54e-05	0	0	0	0	4.412e-05	0.0005	0.0019	0.243	0.17526	T	0.326	0.18789	T	1.0	0.90584	D	0.99	0.78936	D	0.007918	0.31126	U	0.000000	1	0.08975	N	0.55	0.14455	N	9.01	0.00020	T	-4.71	0.79915	D	0.11	0.09631	-0.8520	0.51830	T	0.000	0.00114	T	10	0.017534703	0.00375	T	0.001116	0.01336	T	0.059	0.16972	.	.	0.40218521252	0.39833	0.14005197133322314	0.13928	0.256323220609	0.28213	0.216883599758	0.01138	T	0.017516	0.14276	T	-0.626541	0.00100	T	-0.708137	0.05391	T	0.127699936161778	0.15167	T	0.808019	0.45805	T	0.12237542	0.28758	0.12899971	0.31027	0.12237542	0.28758	0.12899971	0.31026	-6.663	0.51531	T	.	.	0.201	0.45918	B	.;.;.	.;.;.	0.575331	0.09437	6.217	0.50778668107399949	0.04444	0.00833	0.03349	N	AEFI	0.024970	0.01631	N	-0.609866271638025	0.18646	0.9697746	-0.817280878670511	0.14076	0.7336739	1.19871803836976E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.01	0.848	0.18105	-2.294000	0.01225	-20.000000	0.00162	-0.308000	0.06107	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3588:0.3016:0.1875:0.1521	0.768	0.00954	912	0.21483	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3170.98	157	chr1	248061438	.	C	A	3170.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.469;DP=1150;ExcessHet=0.0000;FS=0.396;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.13;MQRankSum=6.95;QD=9.03;ReadPosRankSum=1.82;SOR=0.737	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1304	20	0	1	0
chr1	248145856	248145856	G	T	exonic	OR2M5	.	nonsynonymous SNV	OR2M5:NM_001004690:exon1:c.G709T:p.A237S,	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.432	B	0.344	B	0.111	U	0.948	N	3.195	M	7.87	T	-1.105	T	0.002	T	0.319	3.412	17.53	2.33	0.442	3.403	11.277	0.148	0.0010593077792	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs370739680	1.095e-05	1.094e-05	1.634e-05	5.502e-06	0.0002	6.48e-06	5.25e-06	7.31e-06	5.72e-06	0	0	0	0	0	0.0002	1.259e-05	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.039	0.51112	D	0.432	0.35621	B	0.344	0.42549	B	0.110954	0.19421	U	0.267379	0.947862	0.26587	N	3.285	0.90273	M	7.87	0.00331	T	-2.86	0.60188	D	0.355	0.39659	-1.1050	0.03537	T	0.002	0.00585	T	10	0.22653681	0.39511	T	0.001059	0.01215	T	0.148	0.39182	.	.	0.0297737177859	0.01360	0.038629390422680696	0.03808	0.040642905905	0.04362	0.216988563538	0.01143	T	0.007	0.06227	T	-0.180847	0.23611	T	-0.482064	0.24227	T	0.79268604516983	0.45865	D	0.822018	0.48145	T	0.12029417	0.28310	0.09169481	0.21573	0.12029417	0.28309	0.09169481	0.21572	-7.87	0.60181	D	.	.	0.165	0.36295	B	.	.	2.098323	0.26693	17.21	0.99636898449471767	0.76387	0.84181	0.43264	D	AEFI	0.162081	0.28822	N	-0.0291651043766264	0.40537	2.409114	-0.138429040396921	0.33856	1.941152	0.00544738174765483	0.10940	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.28	2.33	0.27981	4.634000	0.61023	0.494000	0.18929	-0.373000	0.05434	0.998000	0.41325	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.8149:0.185	11.277	0.48407	976	0.04745	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4753.98	38	chr1	248145856	.	G	T	4753.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.900e-02;DP=1088;ExcessHet=0.0000;FS=5.344;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=0.00;QD=13.06;ReadPosRankSum=0.864;SOR=0.961	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr1	248180287	248180301	TTTTCTTCTATATAT	-	exonic	OR2M2	.	nonframeshift deletion	OR2M2:NM_001004688:exon1:c.302_316del:p.I101_S106delinsT,	.	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0	0.0005	0.0001	0	5.993e-05	0.0011	0.0037	3.84e-05	1	26028	rs770843804	0.0003	0.0003	0.0002	0.0004	0.0038	0.0003	0.0002	0.0034	0.0033	0	0.0002	0	2.519e-05	0	0.0005	3.777e-05	0.0003	0.0038	0.0002	0.0002	0.0001	0.0004	0.0065	0.0002	0.0002	0.0047	0.0041	2.413e-05	0	0	0	0	0	0	5.884e-05	0	0.0065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	6190.94	326	chr1	248180286	.	ATTTTCTTCTATATAT	A	6190.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.38;DP=5104;ExcessHet=0.0000;FS=3.282;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.64;MQRankSum=-5.504e+00;QD=15.25;ReadPosRankSum=-4.210e-01;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:376,0:376:99:.:.:0,120,1800	20	0	1	0
chr1	248180303	248180303	-	TT	exonic	OR2M2	.	frameshift insertion	OR2M2:NM_001004688:exon1:c.318_319insTT:p.L107Ffs*25,	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0	0.0005	0.0001	0	5.993e-05	0.0011	0.0037	3.84e-05	1	26028	rs778976585	0.0003	0.0003	0.0002	0.0004	0.0038	0.0003	0.0002	0.0034	0.0033	0	0.0002	0	2.519e-05	0	0.0005	3.777e-05	0.0003	0.0038	0.0002	0.0002	0.0001	0.0004	0.0064	0.0002	0.0002	0.0047	0.0041	2.414e-05	0	0	0	0	0	0	5.884e-05	0	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	6273.94	326	chr1	248180303	.	A	ATT	6273.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.97;DP=5087;ExcessHet=0.0000;FS=5.099;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.67;MQRankSum=-5.634e+00;QD=15.96;ReadPosRankSum=0.302;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:376,0:376:99:.:.:0,120,1800	20	0	1	0
chr1	248203803	248203803	T	A	exonic	OR2M3	.	nonsynonymous SNV	OR2M3:NM_001004689:exon1:c.T736A:p.L246M,	.	.	.	.	.	.	.	.	.	.	.	2344942	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.33	T	0.0	B	0.002	B	0.579	N	1.000	N	-0.255	N	1.01	T	-1.065	T	0.040	T	0.149	-0.587	1.368	-2.35	-0.659	-0.443	1.063	0.012	0.000808557699564	.	.	2.472e-05	0	0	0.0001	0	1.498e-05	0	6.056e-05	7.68e-05	2	26028	rs765106571	2.533e-05	2.941e-05	1.907e-05	3.164e-05	0.0002	1.869e-05	1.632e-05	2.083e-05	1.782e-05	0	0	0	5.038e-05	0	0.0002	2.878e-05	0	2.32e-05	1.972e-05	1.97e-05	0	4.038e-05	0.0002	5.24e-06	2.46e-06	.	.	2.415e-05	0	0	0	0	9.42e-05	0	0	0	0.0002	0.685	0.04366	T	0.244	0.24123	T	0.0	0.02946	B	0.002	0.06944	B	0.579148	0.05525	N	1.312740	1	0.08975	N	-0.705	0.01820	N	1.01	0.41058	T	0.62	0.02442	N	0.076	0.05037	-1.0652	0.10502	T	0.040	0.17362	T	10	0.036752105	0.01990	T	8.09E-4	0.00649	T	0.012	0.01476	0.443	0.49975	0.104622674875	0.10061	0.029960207494235513	0.02945	0.0574566319078	0.06361	0.203706562519	0.00572	T	0.007722	0.07108	T	-0.455513	0.01047	T	-0.689436	0.06421	T	0.0402487247546791	0.03736	T	0.0469953	0.00336	T	0.053040255	0.09979	0.031567313	0.01763	0.053040255	0.09978	0.031567313	0.01763	-3.343	0.14298	T	.	.	0.092	0.13597	B	.;.	.;.	-0.611962	0.01539	0.100	0.097726069907511051	0.00107	0.00118	0.00744	N	AEFGI	0.012799	0.00150	N	-1.68468202411566	0.00897	0.03884133	-1.72639548472455	0.01026	0.04599812	7.18997428478113E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.54	-2.35	0.06302	-0.762000	0.04851	-20.000000	0.00162	-2.391000	0.00297	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4967:0.1542:0.1981:0.1509	1.063	0.01504	976	0.04745	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3729.98	296	chr1	248203803	.	T	A	3729.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.709e+00;DP=1350;ExcessHet=0.0000;FS=1.390;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.87;MQRankSum=-1.461e+00;QD=12.60;ReadPosRankSum=-7.200e-01;SOR=0.605	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,120,1800	20	0	1	0
chr1	248273644	248273644	C	T	exonic	OR2T33	.	nonsynonymous SNV	OR2T33:NM_001004695:exon1:c.G171A:p.M57I,	.	.	452	1051	19	0	0	19	0.00895804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.97	D	0.83	P	0.001	U	0.587	D	4.12	H	2.99	T	-0.700	T	0.080	T	0.459	3.484	17.82	1.74	0.396	4.051	9.667	0.168	.	0.0022	0.00459265	0.0051	0.0006	0.0013	0.0001	0.0027	0.0037	0.0044	0.0199	0.0004463	69	154602	rs146191422	0.0044	0.0044	0.0039	0.0049	0.0188	0.0043	0.0043	0.0180	0.0177	0.0006	0.0020	0.0010	0.0001	0.0028	0.0058	0.0038	0.0041	0.0188	0.0034	0.0034	0.0030	0.0037	0.0205	0.0031	0.0030	0.0173	0.0160	0.0004	0	0.0024	0.0009	0.0002	0.0035	0.0068	0.0046	0.0014	0.0205	0.001	0.78490	D	0.004	0.74150	D	0.97	0.56973	D	0.83	0.59611	P	0.000672	0.42516	U	0.000000	0.587033	0.32423	D	3.175	0.88760	M	2.99	0.09262	T	-3.3	0.65858	D	0.348	0.38950	-0.7002	0.60429	T	0.080	0.31705	T	10	0.0103830695	0.00231	T	.	.	.	0.168	0.42943	0.709	0.84509	0.60215957748	0.59898	0.32062858547817424	0.31975	1.61704118972	0.89014	0.216252028942	0.01104	T	0.012069	0.10668	T	-0.437176	0.01343	T	-0.385813	0.35043	T	0.0477881684187641	0.05106	T	0.873813	0.58316	D	0.8095102	0.84521	0.7608464	0.85870	0.8095102	0.84523	0.7608464	0.85871	-10.149	0.74799	D	.	.	0.731	0.74227	P	.;.	.;.	3.287508	0.45070	22.1	0.99636210278872583	0.76387	0.77667	0.38214	D	AEFI	0.231881	0.35503	N	0.521612514642491	0.68369	5.207717	0.327675825219252	0.57172	3.882075	4.13555868377744E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.7	1.74	0.23636	3.325000	0.51742	0.669000	0.20577	0.561000	0.28422	1.000000	0.71638	0.956000	0.29165	0.937000	0.47636	0.0:0.8852:0.0:0.1148	9.667	0.39154	982	0.03397	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2654.98	169	chr1	248273644	.	C	T	2654.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.808e+00;DP=2585;ExcessHet=0.0000;FS=1.109;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=44.28;MQRankSum=2.22;QD=13.62;ReadPosRankSum=-8.830e-01;SOR=0.750	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,114,1710	20	0	1	0
chr1	248361672	248361672	A	0	exonic	OR2T4	.	.	.	.	.	444	759	27	2	290	321	0.0200129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	3294.69	34	chr1	248361672	.	A	G,*	3294.69	.	AC=1,14;AF=0.025,0.350;AN=40;BaseQRankSum=-7.600e-01;DP=3320;ExcessHet=0.8717;FS=8.880;InbreedingCoeff=0.0286;MLEAC=1,14;MLEAF=0.025,0.350;MQ=60.00;MQRankSum=0.00;QD=1.30;ReadPosRankSum=0.556;SOR=0.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0,0:37:99:.:.:0,101,1409,101,1409,1409	8	0	1	1
chr1	248406232	248406232	A	G	exonic	OR2T1	.	nonsynonymous SNV	OR2T1:NM_030904:exon1:c.A238G:p.I80V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.0	B	0.001	B	0.043	U	1.000	N	-0.2	N	4.07	T	-0.935	T	0.004	T	0.069	-1.514	0.016	-5.41	-0.587	-1.364	4.293	0.002	0.00102223275083	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1454654192	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.602	0.07894	T	0.0	0.02946	B	0.001	0.04355	B	0.043409	0.23741	U	0.203527	1	0.08975	N	0.175	0.09039	N	4.07	0.03033	T	0.21	0.04776	N	0.039	0.01274	-0.9346	0.43455	T	0.004	0.01226	T	10	0.041002035	0.02716	T	0.001022	0.01120	T	0.002	0.00045	0.367	0.37524	0.0716867268079	0.06686	0.03282831461294318	0.03230	0.0118324598183	0.01115	0.214069515467	0.00996	T	0.003864	0.03272	T	-0.497507	0.00590	T	-0.855557	0.00892	T	0.0211606445397522	0.00818	T	0.143986	0.01172	T	0.028645385	0.02235	0.026727654	0.00779	0.028645385	0.02234	0.026727654	0.00779	-2.875	0.08896	T	.	.	0.065	0.01859	B	.;.	.;.	-0.860230	0.00994	0.040	0.23808219423539684	0.01023	0.01881	0.05786	N	AEFBI	0.037003	0.05020	N	-1.75115778150538	0.00676	0.02916092	-1.77184807749597	0.00854	0.03814095	0.227369728459863	0.18426	0.559995	0.30671	0	0.624146	0.53433	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.71	-5.41	0.02442	-1.541000	0.02302	-9.680000	0.00790	-0.692000	0.04118	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.1926:0.2369:0.4547:0.1158	4.293	0.10335	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	109.25	104	chr1	248406232	.	A	G	109.25	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.896e+00;DP=2234;ExcessHet=0.0000;FS=152.173;InbreedingCoeff=-0.0356;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.49;ReadPosRankSum=3.76;SOR=7.614	GT:AD:DP:GQ:PL	0/0:231,0:231:1:0,1,4934	20	0	1	0
chr1	248441544	248441544	G	A	exonic	OR2T7	.	nonsynonymous SNV	OR2T7:NM_001355223:exon1:c.G428A:p.R143H,	.	.	431	984	107	0	0	107	0.0515663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0111821	0.0140	0.0012	0.0016	0.0007	0.0256	0.0089	0.0177	0.0527	0.000815	126	154602	rs138819139	0.0096	0.0097	0.0079	0.0113	0.0559	0.0095	0.0094	0.0546	0.0541	0.0010	0.0030	0.0133	0.0003	0.0252	0.0209	0.0060	0.0100	0.0559	0.0087	0.0085	0.0073	0.0102	0.0501	0.0083	0.0081	0.0449	0.0429	0.0011	0	0.0031	0.0157	0.0012	0.0257	0.0174	0.0085	0.0098	0.0501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	6403.92	42	chr1	248441544	.	G	A	6403.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.04;DP=2468;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=48.50;MQRankSum=4.58;QD=9.67;ReadPosRankSum=1.26;SOR=0.752	GT:AD:DP:GQ:PL	0/1:126,65:191:99:1426,0,3389	17	0	4	0
chr1	248441549	248441549	G	A	exonic	OR2T7	.	nonsynonymous SNV	OR2T7:NM_001355223:exon1:c.G433A:p.V145I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00371720766164	.	.	9.967e-05	0.0003	0	0	0	4.502e-05	0	0.0004	.	.	.	rs189738420	3.7e-05	5.679e-05	3.682e-05	3.718e-05	0.0003	2.898e-05	2.596e-05	0.0002	0.0001	0.0003	4.475e-05	3.831e-05	0	0	0	1.8e-05	9.95e-05	0.0002	6.921e-05	0.0001	4.061e-05	9.915e-05	0.0002	3.693e-05	2.845e-05	7.503e-05	5.068e-05	0.0002	0	6.704e-05	0	0	0	0	2.951e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1455.98	42	chr1	248441549	.	G	A	1455.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=2437;ExcessHet=0.0000;FS=3.709;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=46.45;MQRankSum=7.15;QD=14.42;ReadPosRankSum=2.75;SOR=0.815	GT:AD:DP:GQ:PL	0/0:191,0:191:99:0,120,1800	20	0	1	0
chr1	248473915	248473915	C	A	exonic	OR2T3	.	nonsynonymous SNV	OR2T3:NM_001005495:exon1:c.C565A:p.L189M,	.	.	433	1078	10	1	0	12	0.00553506	.	.	2431944	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.36	T	0.873	P	0.417	B	.	.	1.000	N	1.805	L	8.51	T	-1.046	T	0.001	T	0.156	0.705	7.761	-4.74	-1.359	-4.147	6.217	0.074	0.0011409262137	.	.	0.0003	0	0	0	0	0.0001	0.0023	0.0014	3.84e-05	1	26028	rs775000698	7.142e-05	0.0002	5.107e-05	9.196e-05	0.0012	5.994e-05	5.598e-05	0.0006	0.0004	0	2.251e-05	3.857e-05	0	0	0.0012	2.919e-05	0.0002	0.0006	7.197e-06	5.323e-05	0	1.485e-05	0.0003	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.119	0.28026	T	0.22	0.25907	T	0.873	0.47975	P	0.417	0.44992	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	8.51	0.00206	T	-0.75	0.21003	N	0.131	0.12627	-1.0457	0.15621	T	0.001	0.00188	T	9	0.031590313	0.01296	T	0.001141	0.01410	T	0.074	0.21613	.	.	0.279370189704	0.27548	0.04203864411165852	0.04148	.	.	0.219600051641	0.01287	T	0.006158	0.05598	T	-0.584538	0.00181	T	-0.662866	0.08073	T	0.0207705477086129	0.00777	T	.	.	.	0.12071415	0.28400	0.07521616	0.16538	0.12071415	0.28400	0.07521616	0.16538	-6.057	0.46753	T	.	.	0.188	0.40441	B	.	.	-0.433013	0.02092	0.195	0.91948184627700358	0.21275	0.00544	0.02501	N	AEFI	0.038292	0.05397	N	-0.984749033474567	0.08929	0.4205713	-1.25784726471624	0.05016	0.2380126	0.0569055979939047	0.15073	0.67177	0.52595	0	0.702456	0.74545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.37	-4.74	0.03013	-6.973000	0.00060	-20.000000	0.00162	-0.587000	0.04669	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.3597:0.2818:0.3585	6.217	0.19873	982	0.03397	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	77.98	43	chr1	248473915	.	C	A	77.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.719e+00;DP=1617;ExcessHet=0.0000;FS=4.593;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=29.81;MQRankSum=-1.079e+00;QD=3.90;ReadPosRankSum=1.05;SOR=0.730	GT:AD:DP:GQ:PL	0/0:108,0:108:99:0,120,1800	20	0	1	0
chr1	248473955	248473955	C	T	exonic	OR2T3	.	nonsynonymous SNV	OR2T3:NM_001005495:exon1:c.C605T:p.T202M,	.	.	513	995	7	7	0	21	0.0104426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.253	B	0.044	B	.	.	1.000	N	-0.205	N	8.7	T	-1.142	T	0.000	T	0.07	-0.087	3.575	-4.21	-0.819	0.062	4.529	0.017	.	.	0.0159744	0.0033	0.0012	0.0048	0.0028	0.0007	0.0034	0.0048	0.0042	0.0038163	590	154602	rs1770111	0.0040	0.0065	0.0037	0.0042	0.0158	0.0039	0.0038	0.0130	0.0120	0.0015	0.0090	0.0167	0.0099	0.0014	0.0158	0.0031	0.0060	0.0066	0.0029	0.0034	0.0030	0.0028	0.0045	0.0027	0.0026	0.0030	0.0028	0.0014	0	0.0037	0.0116	0.0045	0	0.0263	0.0034	0.0066	0.0028	0.33	0.13131	T	0.278	0.21812	T	0.253	0.31246	B	0.044	0.24394	B	.	.	.	.	1	0.08975	N	0.325	0.10370	N	8.7	0.00113	T	-1.55	0.37566	N	0.061	0.03283	-1.1423	0.01275	T	0.000	0.00075	T	9	0.003765136	0.00070	T	.	.	.	0.017	0.02790	.	.	0.248417906384	0.24464	0.08161976449713292	0.08096	.	.	0.208420783281	0.00746	T	0.007275	0.06695	T	-0.686348	0.00044	T	-0.756334	0.03245	T	0.00104304895295309	0.00010	T	.	.	.	0.023127548	0.01027	0.041032095	0.04570	0.023127548	0.01026	0.041032095	0.04570	-5.433	0.41236	T	.	.	0.083	0.09191	B	.	.	0.258199	0.06370	2.833	0.62706229663304625	0.07031	0.00072	0.00504	N	AEFI	0.023168	0.01255	N	-1.60379288941427	0.01245	0.0541869	-1.68700124543288	0.01196	0.05383138	0.00180660915644204	0.08901	0.67177	0.52595	0	0.702456	0.74545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.37	-4.21	0.03552	0.113000	0.15333	-20.000000	0.00162	-0.412000	0.05259	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1746:0.2059:0.0:0.6195	4.529	0.11400	982	0.03397	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02778	2076.11	43	chr1	248473955	.	C	T	2076.11	.	AC=1;AF=0.028;AN=36;BaseQRankSum=3.15;DP=1763;ExcessHet=0.0000;FS=0.511;InbreedingCoeff=0.3247;MLEAC=1;MLEAF=0.028;MQ=55.47;MQRankSum=-1.048e+01;QD=9.35;ReadPosRankSum=1.69;SOR=0.769	GT:AD:DP:GQ:PL	0/0:108,0:108:99:0,120,1800	17	0	1	3
chr1	248574193	248574193	G	T	exonic	OR2T34	.	nonsynonymous SNV	OR2T34:NM_001001821:exon1:c.C565A:p.L189M,	.	.	418	1078	26	0	0	26	0.0119157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.873	P	0.417	B	.	.	1.000	N	1.815	L	8.51	T	-1.034	T	0.000	T	0.134	1.110	9.527	-2.84	-0.570	-5.532	1.217	0.057	0.000672910656085	.	0.000399361	0.0006	0	0.0003	0	0	0.0003	0.0011	0.0025	7.68e-05	2	26028	rs575563477	0.0003	0.0004	0.0002	0.0004	0.0042	0.0003	0.0002	0.0029	0.0025	6.212e-05	0.0001	0.0005	0	1.872e-05	0.0042	0.0001	0.0005	0.0022	0.0003	0.0003	0.0002	0.0003	0.0015	0.0002	0.0002	0.0007	0.0005	0.0001	0	0.0001	0.0009	0	0	0.0034	0.0003	0.0015	0.0015	0.12	0.27904	T	0.212	0.26549	T	0.873	0.47975	P	0.417	0.44992	B	.	.	.	.	1	0.08975	N	1.775	0.45938	L	8.51	0.00206	T	-0.8	0.22078	N	0.237	0.26717	-1.0337	0.19268	T	0.000	0.00152	T	9	0.020856768	0.00488	T	6.73E-4	0.00383	T	0.057	0.16321	.	.	0.369144000639	0.36531	0.034143668740740526	0.03362	.	.	0.239755779505	0.02768	T	0.00194	0.01356	T	-0.624457	0.00103	T	-0.720207	0.04786	T	0.0251596211738474	0.01294	T	0.751925	0.37414	T	0.11390019	0.26896	0.06288149	0.12372	0.11390019	0.26895	0.06288149	0.12371	-5.839	0.44913	T	.	.	0.167	0.36850	B	.	.	-0.401801	0.02206	0.220	0.97647984064209736	0.35120	0.00387	0.01950	N	AEFGI	0.021722	0.01000	N	-0.901263227136625	0.10813	0.5185768	-1.15814268899954	0.06623	0.3194061	2.82967556221275E-5	0.03498	0.615465	0.37627	0	0.633656	0.55848	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.51	-2.84	0.05408	-7.273000	0.00051	-20.000000	0.00162	-0.466000	0.05104	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.308:0.1514:0.3876:0.153	1.217	0.01800	982	0.03397	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3116.98	67	chr1	248574193	.	G	T	3116.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.234e+00;DP=3345;ExcessHet=0.0000;FS=9.730;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=48.08;MQRankSum=-1.088e+01;QD=10.19;ReadPosRankSum=-3.689e+00;SOR=0.383	GT:AD:DP:GQ:PL	0/0:206,0:206:99:0,120,1800	20	0	1	0
chr1	248574211	248574211	A	G	exonic	OR2T34	.	nonsynonymous SNV	OR2T34:NM_001001821:exon1:c.T547C:p.F183L,	.	.	419	1074	29	0	0	29	0.0133211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.995	D	0.956	D	.	.	1.000	N	2.575	M	8.52	T	-0.920	T	0.002	T	0.199	2.944	15.81	2.37	0.964	3.736	9.241	0.104	.	0.0029	0.00219649	0.0056	0.0009	0.0022	0	0.0162	0.0078	0.0022	0.0010	0.0004592	71	154602	rs148006635	0.0056	0.0064	0.0056	0.0057	0.0075	0.0055	0.0055	0.0061	0.0060	0.0007	0.0021	0.0009	2.519e-05	0.0151	0.0075	0.0062	0.0047	0.0009	0.0050	0.0055	0.0048	0.0051	0.0076	0.0047	0.0046	0.0070	0.0068	0.0010	0.0022	0.0018	0.0012	0	0.0126	0.0068	0.0076	0.0053	0.0006	0.001	0.78490	D	0.094	0.39645	T	0.995	0.67487	D	0.956	0.69739	D	.	.	.	.	0.999639	0.20820	N	2.315	0.66250	M	8.52	0.00202	T	-5.93	0.89029	D	0.34	0.38129	-0.9201	0.45540	T	0.002	0.00526	T	9	0.014186472	0.00299	T	.	.	.	0.104	0.29647	0.47	0.54376	0.564560304341	0.56119	0.05930058072727752	0.05870	.	.	0.30463373661	0.11096	T	0.005492	0.04941	T	-0.533322	0.00367	T	-0.534151	0.18873	T	0.074082154476566	0.09213	T	0.778722	0.41238	T	0.521896	0.68368	0.5097713	0.71670	0.521896	0.68369	0.5097713	0.71670	-6.617	0.51183	T	.	.	0.754	0.75239	P	.	.	2.914086	0.38662	20.8	0.99351913127643576	0.60615	0.88468	0.48410	D	AEGI	0.086981	0.17636	N	0.0759686768260617	0.45343	2.79245	-0.15928088697545	0.33053	1.886712	1.57936258024448E-4	0.05650	0.615465	0.37627	0	0.633656	0.55848	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.37	2.37	0.28337	3.065000	0.49687	0.065000	0.14184	0.351000	0.19951	0.985000	0.35982	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	9.241	0.36656	982	0.03397	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1837.98	67	chr1	248574211	.	A	G	1837.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.426e+00;DP=2281;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=49.31;MQRankSum=3.89;QD=7.82;ReadPosRankSum=1.46;SOR=0.662	GT:AD:DP:GQ:PL	0/0:93,0:93:99:0,120,1800	20	0	1	0
chr1	248574285	248574285	A	G	exonic	OR2T34	.	nonsynonymous SNV	OR2T34:NM_001001821:exon1:c.T473C:p.M158T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.131	B	0.145	B	.	.	1.000	N	-0.24	N	8.75	T	-1.082	T	0.000	T	0.044	0.621	7.342	-2.13	-0.841	-0.128	8.908	0.023	0.000521159305134	.	.	1.724e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs773346298	3.441e-06	9.578e-06	1.37e-06	5.53e-06	5.803e-05	1.01e-06	7.3e-07	2.196e-05	1.431e-05	0	0	0	0	0	0	0	0	5.803e-05	0	1.32e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.034	0.44029	D	0.119	0.36101	T	0.131	0.27154	B	0.145	0.33871	B	.	.	.	.	1	0.08975	N	-0.22	0.03977	N	8.75	0.00077	T	0.51	0.02898	N	0.055	0.02658	-1.0822	0.06927	T	0.000	0.00075	T	9	0.058273822	0.06825	T	5.21E-4	0.00174	T	0.023	0.04649	0.463	0.53242	0.161926535498	0.15789	0.1896787170838193	0.18885	.	.	0.45932072401	0.33217	T	9.7E-5	0.00009	T	-0.512911	0.00483	T	-0.79301	0.02083	T	0.0866975057303239	0.10822	T	0.257774	0.04077	T	0.07323875	0.16351	0.09678552	0.23011	0.07323875	0.16350	0.09678552	0.23010	-2.719	0.07464	T	.	.	0.086	0.10931	B	.	.	0.086053	0.04908	1.488	0.69905946783156081	0.09122	0.01315	0.04551	N	AEFGI	0.020277	0.00785	N	-1.20297673264271	0.04956	0.224839	-1.28809963935539	0.04591	0.2168932	7.74582224389176E-6	0.01202	0.615465	0.37627	0	0.633656	0.55848	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.34	-2.13	0.06745	0.244000	0.17899	-15.654000	0.00347	-0.331000	0.05774	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3679:0.0:0.6321:0.0	8.908	0.34696	982	0.03397	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1465.98	67	chr1	248574285	.	A	G	1465.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.560e+00;DP=2181;ExcessHet=0.0000;FS=7.160;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.89;MQRankSum=-2.231e+00;QD=8.19;ReadPosRankSum=0.084;SOR=0.336	GT:AD:DP:GQ:PL	0/0:93,0:93:99:0,120,1800	20	0	1	0
chr1	248638325	248638325	G	T	exonic	OR2T35	.	nonsynonymous SNV	OR2T35:NM_001001827:exon1:c.C934A:p.Q312K,	.	.	448	1067	5	2	0	9	0.00419972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.003	B	0.405	N	1.000	N	0.205	N	1.28	T	-0.995	T	0.029	T	0.065	0.013	4.081	-4.28	-1.436	-0.664	2.792	0.015	0.000651785031621	.	.	.	.	.	.	.	.	.	.	.	.	.	rs773478284	0.0008	0.0005	0.0007	0.0008	0.0029	0.0007	0.0007	0.0017	0.0015	7.549e-05	0.0003	0	0	3.975e-05	0.0029	0.0008	0.0013	0.0018	0.0006	0.0006	0.0007	0.0005	0.0016	0.0005	0.0005	0.0008	0.0007	0.0002	0	0.0005	0	0	0	0	0.0010	0.0006	0.0016	0.224	0.18691	T	0.715	0.05434	T	0.0	0.02946	B	0.003	0.08700	B	0.405105	0.13072	N	0.663946	1	0.08975	N	0.155	0.08919	N	1.28	0.35960	T	-0.3	0.11913	N	0.142	0.14196	-0.9946	0.31405	T	0.029	0.12234	T	10	0.046363443	0.03818	T	6.52E-4	0.00350	T	0.015	0.02232	.	.	0.351146185902	0.34720	0.10346781363592959	0.10276	1.95920376204	0.93432	0.353717148304	0.18468	T	0.002057	0.01461	T	-0.353512	0.04510	T	-0.745572	0.03661	T	0.0677950714799263	0.08339	T	0.342966	0.07460	T	0.05353292	0.10144	0.044990294	0.05953	0.05353292	0.10144	0.044990294	0.05953	-4.112	0.25467	T	.	.	0.081	0.08417	B	.;.	.;.	-0.469683	0.01966	0.170	0.35780286028575425	0.02265	0.00643	0.02809	N	AEFI	0.027572	0.02277	N	-1.74467045494547	0.00695	0.0300075	-1.82722822433919	0.00676	0.0300648	1.39872963777933E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.14	-4.28	0.03475	-1.465000	0.02463	-2.347000	0.03869	0.309000	0.19094	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0975:0.1411:0.3308:0.4306	2.792	0.05060	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1830.98	143	chr1	248638325	.	G	T	1830.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=2442;ExcessHet=0.0000;FS=14.128;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=49.00;MQRankSum=0.971;QD=11.52;ReadPosRankSum=0.495;SOR=1.343	GT:AD:DP:GQ:PL	0/0:85,0:85:99:0,120,1800	20	0	1	0
chr1	248682162	248682162	G	T	exonic	OR14I1	.	nonsynonymous SNV	OR14I1:NM_001004734:exon1:c.C143A:p.T48N,	.	.	426	1089	7	0	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.88	P	0.424	B	0.006	N	1.000	N	2.125	M	4.06	T	-1.023	T	0.015	T	0.158	1.701	11.65	1.23	0.575	-2.043	6.34	0.047	0.00132740180953	0.0005	.	0.0003	0	0.0002	0	0	0.0004	0.0022	0.0004	0.0002329	36	154602	rs149611560	0.0005	0.0005	0.0005	0.0005	0.0111	0.0005	0.0004	0.0085	0.0076	0.0004	0.0006	0.0007	0	1.882e-05	0.0111	0.0005	0.0008	0.0004	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	9.624e-05	0	0.0004	0.0012	0	0	0.0408	0.0003	0.0005	0	0.005	0.63226	D	0.003	0.76473	D	0.88	0.48402	P	0.424	0.45210	B	0.005895	0.32428	N	0.138351	1	0.08975	N	1.67	0.42885	L	4.06	0.03063	T	-3.48	0.67941	D	0.121	0.11197	-1.0230	0.22736	T	0.015	0.06138	T	10	0.05048734	0.04788	T	0.001327	0.01885	T	0.047	0.12962	.	.	0.12205267543	0.11705	0.08912405562032685	0.08845	0.223301758412	0.24858	0.23038713634	0.01997	T	0.008179	0.07523	T	-0.538024	0.00344	T	-0.663439	0.08036	T	0.0989147989587565	0.12237	T	0.205479	0.02425	T	0.3796576	0.59291	0.37194642	0.62414	0.3796576	0.59292	0.37194642	0.62413	-7.163	0.55215	T	.	.	0.116	0.23395	B	.	.	0.936583	0.13123	9.623	0.96170069052218854	0.28926	0.01201	0.04282	N	AEFBI	0.025600	0.01782	N	-0.478545224135619	0.22785	1.219074	-0.700452710326486	0.16949	0.8990124	2.27139870506645E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.35	1.23	0.20358	-5.597000	0.00132	-11.915000	0.00565	-0.275000	0.06596	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1166:0.1853:0.6981:0.0	6.34	0.20523	988	0.01987	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1779.98	111	chr1	248682162	.	G	T	1779.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.427;DP=2435;ExcessHet=0.0000;FS=4.799;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.04;ReadPosRankSum=-1.474e+00;SOR=0.360	GT:AD:DP:GQ:PL	0/0:137,0:137:99:0,120,1800	20	0	1	0
chr1	248847552	248847552	G	A	exonic	ZNF672	.	nonsynonymous SNV	ZNF672:NM_024836:exon4:c.G278A:p.R93Q,	.	.	429	1092	1	0	0	1	0.000457666	.	.	2330327	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.319	B	0.02	B	.	.	1.000	N	0.815	L	2.47	T	-1.014	T	0.024	T	0.188	2.412	14.02	0.81	0.458	1.440	5.424	0.089	0.0261068710196	.	.	2.612e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs760994361	8.157e-05	8.551e-05	7.06e-05	9.27e-05	0.0002	6.931e-05	6.476e-05	0.0001	0.0001	0	7.119e-05	0	0	0	0.0002	8.265e-05	6.736e-05	0.0002	5.255e-05	5.253e-05	3.853e-05	6.723e-05	0.0003	2.556e-05	1.83e-05	8.874e-05	5.384e-05	0	0	0.0003	0	0	0	0	4.41e-05	0	0.0002	0.119	0.28026	T	0.004	0.74150	D	0.319	0.32965	B	0.02	0.19048	B	.	.	.	.	1	0.08975	N	0.885	0.21608	L	2.47	0.14783	T	-0.21	0.10308	N	0.102	0.08506	-1.0138	0.25720	T	0.024	0.10148	T	9	0.07163003	0.10585	T	0.026107	0.49041	D	0.089	0.25827	0.34	0.33141	0.0716867268079	0.06686	0.03938788522988525	0.03884	1.59567640353	0.88605	0.69647359848	0.66635	T	0.013908	0.11938	T	-0.275917	0.11105	T	-0.634112	0.10103	T	0.0926269036797822	0.11525	T	0.610439	0.23144	T	0.03860796	0.05176	0.039650474	0.04108	0.03860796	0.05176	0.039650474	0.04108	-5.22	0.39144	T	.	.	0.105	0.19357	B	.	.	1.938130	0.24616	16.46	0.99842707380573426	0.92316	0.08106	0.14075	N	AEFDBI	0.072751	0.14528	N	-0.755689038227378	0.14479	0.7215928	-0.830109237201391	0.13766	0.7159369	0.998020049294398	0.36327	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	3.97	0.81	0.17873	-0.045000	0.11957	0.639000	0.20302	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2084:0.17:0.6216:0.0	5.424	0.15716	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1793.98	135	chr1	248847552	.	G	A	1793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.906;DP=940;ExcessHet=0.0000;FS=1.355;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.29;ReadPosRankSum=-2.700e-01;SOR=0.828	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1167	20	0	1	0
chr1	248848240	248848240	C	A	exonic	ZNF672	.	nonsynonymous SNV	ZNF672:NM_024836:exon4:c.C966A:p.D322E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	B	0.008	B	0.002	U	1.000	N	-0.02	N	1.3	T	-1.046	T	0.035	T	0.084	2.800	15.33	2.39	0.963	-0.238	3.837	0.018	0.00868446804641	.	.	3.315e-05	0	0	0	0	6.031e-05	0	0	1.94e-05	3	154602	rs745545294	4.139e-06	6.157e-06	5.491e-06	2.773e-06	0.0003	1.49e-06	9.8e-07	6.099e-05	2.524e-05	0	0	0.0001	0	0	0.0003	9.011e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.185	0.28958	T	0.01	0.15535	B	0.008	0.13708	B	0.001775	0.38052	U	0.000000	0.999953	0.19072	N	-0.275	0.03743	N	1.3	0.35590	T	0.36	0.03700	N	0.128	0.12198	-1.0458	0.15592	T	0.035	0.14900	T	9	0.049171746	0.04467	T	0.008684	0.22927	T	0.018	0.03083	0.317	0.29419	0.126345400529	0.12197	0.040964682446968506	0.04041	1.37926964747	0.84740	0.806568264961	0.82965	D	0.007033	0.06451	T	-0.301473	0.08521	T	-0.670821	0.07556	T	0.28535598358898	0.24396	T	0.756224	0.37950	T	0.08235935	0.18970	0.059583373	0.11206	0.08235935	0.18970	0.059583373	0.11206	-2.588	0.06413	T	.	.	0.878	0.81367	P	.	.	2.559699	0.33151	19.25	0.99468632591343387	0.66207	0.26314	0.22957	N	AEFBI	0.173360	0.30044	N	-0.724235826158136	0.15341	0.7723356	-0.630379139931215	0.18715	1.000945	0.99979560328872	0.43153	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.636168	0.56350	0	.	.	3.3	2.39	0.28492	-0.765000	0.04836	2.067000	0.30424	0.599000	0.40250	0.000000	0.06391	0.999000	0.35428	0.846000	0.39970	0.2401:0.6326:0.0:0.1273	3.837	0.08410	976	0.04745	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1591.98	42	chr1	248848240	.	C	A	1591.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.02;DP=903;ExcessHet=0.0000;FS=2.240;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=-2.040e+00;SOR=0.481	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1148	20	0	1	0
chr2	247601	247601	T	G	exonic	SH3YL1	.	nonsynonymous SNV	SH3YL1:NM_001159597:exon4:c.A228C:p.K76N	.	.	433	1084	5	0	0	5	0.00230097	0.0002	0.122	2345831	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.0	B	0.002	B	0.582	N	1.000	D	0.11	N	2.1	T	-0.987	T	0.029	T	0.065	3.251	16.90	-9.43	-1.629	-0.966	17.261	0.064	0.0064106663685	.	.	0.0002	0	0	0	0	0.0002	0	0.0003	3.23e-05	5	154602	rs774447403	9.66e-05	9.371e-05	0.0001	8.85e-05	0.0006	8.324e-05	7.773e-05	0.0004	0.0003	3.175e-05	0.0006	0.0027	0	0	0.0004	2.04e-05	0.0003	7.617e-05	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0001	0.0006	0.0005	2.414e-05	0	0.0010	0.0043	0	0	0	2.941e-05	0	0	0.046	0.52492	D	0.074	0.48336	T	0.0	0.02946	B	0.002	0.06944	B	0.581519	0.05538	N	1.191960	1	0.81001	D	0.235	0.09667	N	2.1	0.22678	T	0.23	0.06612	N	0.159	0.16586	-0.9874	0.33249	T	0.029	0.12497	T	10	0.013164759	0.00280	T	0.006411	0.16870	T	0.064	0.18567	0.341	0.33302	0.12205267543	0.11705	0.6093513504000334	0.60867	0.0920772939571	0.10393	0.475710749626	0.35467	T	0.083852	0.37148	T	-0.589454	0.00169	T	-0.706216	0.05492	T	0.023600884371108	0.01096	T	0.963804	0.87680	D	0.06718583	0.14526	0.08173434	0.18598	0.06718583	0.14526	0.08173434	0.18597	-7.247	0.55925	T	.	.	0.166	0.48797	B	.;.;.;.;.;.	.;.;.;.;.;.	0.367461	0.07401	4.025	0.93085878955373069	0.22708	0.04706	0.10396	N	AEFBI	0.085095	0.17249	N	-1.41558039395315	0.02501	0.1105562	-1.45744711567475	0.02703	0.1248197	0.999160767696491	0.38622	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	6.12	-9.43	0.00512	-1.148000	0.03295	-4.550000	0.02100	-0.113000	0.14837	0.011000	0.18532	0.000000	0.08366	0.859000	0.40722	0.0:0.7468:0.1074:0.1458	17.261	0.86956	826	0.39940	.;SH3YL1-like, SYLF domain;SH3YL1-like, SYLF domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1348.98	33	chr2	247601	.	T	G	1348.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.700e-01;DP=763;ExcessHet=0.0000;FS=1.800;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.99;ReadPosRankSum=0.550;SOR=0.485	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1138	20	0	1	0
chr2	1308517	1308517	G	T	exonic	SNTG2	.	nonsynonymous SNV	SNTG2:NM_018968:exon15:c.G1308T:p.W436C,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.013	B	0.012	B	0.001	D	1.000	D	0.865	L	-0.58	T	-0.781	T	0.177	T	0.567	0.607	7.271	4.9	2.247	3.280	15.867	0.376	.	0.0002	0.00599042	0.0006	0	0.0268	0.0032	0	0.0001	0	0	0.0007115	110	154602	rs145283195	0.0010	0.0010	0.0011	0.0010	0.0186	0.0010	0.0009	0.0174	0.0169	0.0003	0.0174	0	0.0186	0	0	1.483e-05	0.0017	6.31e-05	0.0016	0.0016	0.0014	0.0018	0.0100	0.0014	0.0014	0.0087	0.0082	0.0007	0	0.0100	0	0.0097	0	0	4.411e-05	0.0043	0	0.187	0.24564	T	0.564	0.10281	T	0.003	0.16609	B	0.003	0.16012	B	0.000776	0.41888	D	0.245861	0.999999	0.58761	D	1.6	0.40776	L	-0.58	0.71425	T	-5.11	0.83092	D	0.641	0.66101	-0.7806	0.56269	T	0.177	0.52225	T	10	0.009831458	0.00221	T	.	.	.	0.376	0.69443	0.798	0.91802	0.59394422163	0.59072	0.598592674641436	0.59790	0.17001482027	0.19168	0.479451626539	0.35980	T	0.133754	0.46462	T	-0.323345	0.06627	T	-0.223613	0.52388	T	0.032921515618884	0.02458	T	0.89951	0.64815	D	0.4264988	0.62522	0.3400726	0.59764	0.4264988	0.62523	0.3400726	0.59763	-9.576	0.72778	D	.	.	0.320	0.56091	B	.;.	.;.	2.916456	0.38706	20.8	0.88645494625736032	0.18140	0.81299	0.40732	D	AEFDBI	0.441202	0.49945	N	-0.137511365853219	0.35767	2.05869	0.0179089891222823	0.40547	2.421553	0.901651555271996	0.26107	0.487112	0.14033	0	0.573888	0.26702	0	0.550215	0.18615	0	0.564101	0.26826	0	.	.	4.9	4.9	0.63643	4.322000	0.59005	6.168000	0.54445	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.728000	0.35033	0.0:0.0:1.0:0.0	15.867	0.78852	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1213.98	38	chr2	1308517	.	G	T	1213.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.710e-01;DP=825;ExcessHet=0.0000;FS=2.293;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.34;ReadPosRankSum=1.52;SOR=0.949	GT:AD:DP:GQ:PL	0/1:75,55:130:99:1228,0,1856	20	0	1	0
chr2	1643470	1643470	C	A	exonic	PXDN	.	nonsynonymous SNV	PXDN:NM_012293:exon19:c.G3850T:p.V1284L,	Anterior segment dysgenesis 7, with sclerocornea, Autosomal recessive	.	429	980	106	7	0	120	0.0576923	.	.	250315	Anterior_segment_dysgenesis_7|not_specified|not_provided	MONDO:MONDO:0010015,MedGen:C3151617,OMIM:269400,Orphanet:289499|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.07	T	0.245	B	0.162	B	0.236	N	1.000	D	1.59	L	-0.29	T	-0.655	T	0.220	T	0.754	3.192	16.69	5.27	2.468	3.081	18.907	0.258	.	0.0049	0.013778	0.0118	0.0015	0.0083	0	0.0003	0.0082	0.0211	0.0453	0.0107631	1664	154602	rs147066927	0.0079	0.0079	0.0067	0.0092	0.0569	0.0078	0.0078	0.0518	0.0498	0.0022	0.0078	0.0245	2.519e-05	0.0005	0.0569	0.0051	0.0113	0.0442	0.0061	0.0061	0.0053	0.0069	0.0452	0.0057	0.0056	0.0403	0.0384	0.0011	0	0.0116	0.0199	0	0.0002	0.0408	0.0054	0.0137	0.0452	0.055	0.38407	T	0.078	0.42261	T	0.245	0.31074	B	0.162	0.34839	B	0.235775	0.15821	N	0.585291	0.999947	0.51968	D	1.68	0.43186	L	-0.29	0.67712	T	-2.41	0.52938	N	0.105	0.08925	-0.6554	0.62478	T	0.220	0.58292	T	10	0.009080559	0.00205	T	.	.	.	0.258	0.56959	0.504	0.59770	.	.	0.718440100943886	0.71787	0.559209178422	0.52472	0.590268671513	0.51531	T	0.257772	0.62885	T	-0.215215	0.18652	T	-0.0483367	0.67135	D	0.0161957909221841	0.00394	T	0.833117	0.50161	T	0.2221549	0.44809	0.1884566	0.42137	0.2221549	0.44809	0.1884566	0.42137	-7.21	0.55553	T	0.1606143896662149	0.19607	0.482	0.63745	A	.	.	3.033307	0.40636	21.2	0.99071842500591201	0.51739	0.96374	0.68826	D	AEFDBCI	0.703649	0.65962	D	0.0678464935631092	0.44968	2.76128	0.176129248850277	0.48542	3.068776	0.999999999974522	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	4.733000	0.61730	7.418000	0.58694	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.363000	0.25954	0.0:1.0:0.0:0.0	18.907	0.92439	824	0.40336	Peroxidasin, peroxidase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	4442.11	37	chr2	1643470	.	C	A	4442.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.178e+00;DP=1097;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=-1.380e-01;SOR=0.674	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	19	0	2	0
chr2	1644637	1644637	G	A	exonic	PXDN	.	nonsynonymous SNV	PXDN:NM_012293:exon18:c.C3724T:p.R1242C,	Anterior segment dysgenesis 7, with sclerocornea, Autosomal recessive	.	420	1101	1	0	0	1	0.000453926	.	.	2717142	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.982	D	0.000	D	1.000	D	3.725	H	-0.75	T	0.584	D	0.679	D	0.68	4.231	22.0	5.43	2.533	4.593	14.114	0.644	0.209661750436	.	.	6.668e-05	0	0	0	0	0	0	0.0005	5.17e-05	8	154602	rs778091236	7.771e-05	8.072e-05	6.567e-05	8.988e-05	0.0008	6.567e-05	6.168e-05	0.0006	0.0006	3.009e-05	0	0	5.072e-05	0	0.0003	3.523e-05	6.666e-05	0.0008	2.631e-05	2.627e-05	3.857e-05	1.346e-05	0.0004	8.15e-06	5.14e-06	7.318e-05	3.039e-05	2.416e-05	0	0	0	0.0002	0	0	0	0	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.982	0.75477	D	0.000048	0.53742	D	0.125504	0.999999	0.58761	D	3.47	0.92451	M	-0.75	0.73311	T	-6.97	0.93544	D	0.793	0.78927	0.584	0.91686	D	0.679	0.88892	D	10	0.8609005	0.85309	D	0.209662	0.87211	D	0.644	0.86485	0.752	0.88237	0.881597688399	0.88044	0.9251150563043892	0.92488	0.86120817891	0.68970	0.707100093365	0.68173	T	0.320928	0.69207	T	-0.0671632	0.41778	T	0.0391987	0.72875	D	0.949402928352356	0.63107	D	0.978002	0.92190	D	0.83762515	0.86439	0.61540014	0.77613	0.83762515	0.86441	0.61540014	0.77614	-13.036	0.89512	D	0.7893737284620618	0.86806	0.261	0.49557	B	.	.	5.532079	0.91880	32	0.99935716927942753	0.99579	0.97955	0.78405	D	AEFDGBI	0.854227	0.77124	D	0.865677643619925	0.89981	10.20133	0.770472553992273	0.87677	9.305378	0.99999999993427	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.43	5.43	0.79006	5.503000	0.66679	11.431000	0.92740	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.438000	0.27627	0.0:0.0:0.8497:0.1503	14.114	0.64672	824	0.40336	Peroxidasin, peroxidase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	866.98	34	chr2	1644637	.	G	A	866.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=7.000e-03;DP=774;ExcessHet=0.0000;FS=1.968;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=1.22;SOR=1.049	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1098	20	0	1	0
chr2	3274392	3274392	G	A	exonic	EIPR1	.	nonsynonymous SNV	EIPR1:NM_001330530:exon4:c.C287T:p.S96F,	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	.	.	2.4	T	-1.010	T	0.029	T	0.16	-0.083	3.592	-0.193	-0.073	-0.685	4.911	0.017	0.000804489930442	.	0.00199681	0.0020	0.0011	0	0	0	0.0026	0	0.0020	0.0010349	160	154602	rs149393347	0.0057	0.0054	0.0058	0.0055	0.0067	0.0056	0.0055	0.0066	0.0066	0.0008	0.0026	0.0004	0	0.0033	0.0026	0.0067	0.0039	0.0015	0.0035	0.0035	0.0037	0.0034	0.0061	0.0033	0.0032	0.0056	0.0054	0.0013	0.0055	0.0024	0.0003	0	0.0018	0	0.0061	0.0028	0.0008	0.0	0.91255	D	0.205	0.27145	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-0.63	0.18459	N	0.138	0.13626	-1.0101	0.26886	T	0.029	0.12365	T	6	0.0058521032	0.00131	T	8.04E-4	0.00629	T	0.017	0.02790	.	.	0.218845423259	0.21516	0.2897425513369705	0.28887	.	.	.	.	.	.	.	.	-0.603756	0.00138	T	-0.635184	0.10024	T	0.0039816630182131	0.00042	T	0.39816	0.10064	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.26607	B	.	.	-0.202055	0.03081	0.483	0.93754292530502858	0.23697	0.00773	0.03184	N	AEFBHCI	0.036089	0.04752	N	-0.743090307207349	0.14822	0.7416276	-0.989709545804442	0.10016	0.5018049	0.00294932351198018	0.09819	0.554377	0.28877	0	0.601575	0.49859	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	0.941	-0.193	0.12593	-0.454000	0.06845	-0.671000	0.07934	0.492000	0.22399	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.384:0.616:0.0	4.911	0.13177	916	0.20744	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1176.98	33	chr2	3274392	.	G	A	1176.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=-3.710e-01;SOR=0.665	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1007	20	0	1	0
chr2	3387687	3387687	G	A	exonic	TRAPPC12	.	nonsynonymous SNV	TRAPPC12:NM_001321102:exon2:c.G64A:p.A22T	.	.	423	1069	30	0	0	30	0.0138376	.	.	1663862	TRAPPC12-related_disorder|not_provided|Inborn_genetic_diseases	.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.56	T	0.787	P	0.182	B	0.108	N	1.000	N	0.895	L	-0.3	T	-0.965	T	0.117	T	0.036	0.908	8.692	2.46	0.524	1.104	5.734	0.071	.	0.0021	0.00139776	0.0050	0.0004	0.0080	0	0.0275	0.0050	0.0102	0.0051	0.0019081	295	154602	rs200941005	0.0025	0.0025	0.0025	0.0026	0.0053	0.0024	0.0024	0.0043	0.0042	0.0009	0.0025	0.0004	2.758e-05	0.0056	0.0053	0.0024	0.0029	0.0047	0.0022	0.0022	0.0020	0.0024	0.0038	0.0020	0.0020	0.0030	0.0027	0.0004	0	0.0038	0.0003	0	0.0063	0	0.0026	0.0019	0.0037	0.4	0.10482	T	0.444	0.13177	T	0.429	0.35556	B	0.019	0.18783	B	0.107730	0.02608	N	1.827870	1	0.08975	N	0.77	0.19370	N	-0.3	0.67874	T	-0.2	0.10136	N	0.032	0.00825	-0.9649	0.38230	T	0.117	0.41187	T	10	0.0035474598	0.00064	T	.	.	.	0.071	0.20720	.	.	0.455722563999	0.45195	0.06708059550249582	0.06646	0.237743367185	0.26321	0.416596293449	0.27369	T	0.003064	0.02464	T	-0.581985	0.00187	T	-0.608217	0.12129	T	0.00150097774500844	0.00015	T	0.353565	0.07967	T	0.02512607	0.01415	0.037013467	0.03266	0.02292016	0.00989	0.036016054	0.02965	-4.169	0.26301	T	0.09427473967491526	0.06291	0.071	0.04002	B	.;.	.;.	0.782339	0.11523	8.123	0.79857654814798007	0.12933	0.02393	0.06788	N	AEFDBI	0.040266	0.05965	N	-0.751456294368612	0.14593	0.7282783	-0.822862250216735	0.13942	0.7259425	0.975804504763812	0.29666	0.643511	0.44296	0	0.643519	0.57511	0	0.570548	0.19454	0	0.631631	0.49550	0	.	.	4.34	2.46	0.29032	0.626000	0.24185	2.228000	0.31507	0.654000	0.53741	0.001000	0.13787	0.038000	0.21505	0.001000	0.02609	0.1029:0.0:0.7068:0.1903	5.734	0.17324	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1287.98	37	chr2	3387687	.	G	A	1287.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=819;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=0.425;SOR=0.612	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1225	20	0	1	0
chr2	3388054	3388054	C	T	exonic	TRAPPC12	.	nonsynonymous SNV	TRAPPC12:NM_001321102:exon2:c.C431T:p.A144V	.	.	423	1098	0	1	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.278	B	0.086	B	0.017	N	1.000	N	0.69	N	0.39	T	-1.068	T	0.095	T	0.045	-0.105	3.487	-1.26	-0.331	0.239	4.708	0.027	0.0406938607016	.	0.000199681	0.0009	0	0	0	0	0	0	0.0013	6.47e-05	10	154602	rs547808412	3.837e-05	3.968e-05	1.891e-05	5.84e-05	0.0006	2.98e-05	2.698e-05	0.0005	0.0004	0	0	0	0	0	0	0	7.096e-05	0.0006	3.943e-05	3.937e-05	5.143e-05	2.688e-05	0.0012	1.715e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.295	0.14743	T	0.305	0.20037	T	0.001	0.07471	B	0.0	0.01387	B	0.017354	0.01463	N	2.530880	1	0.08975	N	0.895	0.22405	L	0.39	0.57419	T	-0.02	0.07299	N	0.098	0.07949	-1.0680	0.09858	T	0.095	0.35871	T	10	0.00884977	0.00200	T	0.040694	0.59520	D	0.027	0.05988	0.21	0.12781	0.104622674875	0.10061	0.06041244027881057	0.05981	0.245710452675	0.27094	0.495861381292	0.38251	T	0.005106	0.04538	T	-0.55635	0.00267	T	-0.654967	0.08610	T	0.0395513586824285	0.03610	T	0.425557	0.11413	T	0.024136547	0.01217	0.029077912	0.01206	0.024136547	0.01216	0.029077912	0.01206	-5.304	0.39983	T	.	.	0.086	0.11124	B	.;.	.;.	0.549425	0.09179	5.963	0.95810344793455882	0.27883	0.13518	0.17901	N	AEFDBCI	0.066646	0.13062	N	-1.22799761014159	0.04598	0.2078482	-1.29101357051953	0.04551	0.2149333	0.407253231076922	0.20182	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.99	-1.26	0.08892	-0.320000	0.08070	1.325000	0.25629	0.499000	0.22661	0.000000	0.06391	0.001000	0.17328	0.003000	0.05239	0.3508:0.3425:0.3067:0.0	4.708	0.12242	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	1475.11	37	chr2	3388054	.	C	T	1475.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.14;DP=800;ExcessHet=0.1072;FS=6.457;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=18.21;ReadPosRankSum=0.211;SOR=0.264	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:83:.:.:0,83,1170	19	0	2	0
chr2	3643816	3643816	G	A	exonic	COLEC11	.	nonsynonymous SNV	COLEC11:NM_001255989:exon4:c.G292A:p.G98S	3MC syndrome 2, Autosomal recessive	.	0	1515	7	0	0	7	0.00230491	.	.	2871635	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.66	T	1.0	D	0.997	D	0.000	D	0.999	N	-0.095	N	2.35	T	-1.032	T	0.028	T	0.221	0.055	4.299	3.38	0.559	3.887	9.906	0.120	0.037341792101	0.0006	0.000798722	0.0006	0	0.0003	0	0	0.0005	0	0.0024	0.0005627	87	154602	rs148786016	0.0007	0.0007	0.0006	0.0008	0.0025	0.0007	0.0007	0.0022	0.0021	0	0.0003	0	0	3.786e-05	0.0024	0.0007	0.0006	0.0025	0.0005	0.0005	0.0005	0.0006	0.0021	0.0004	0.0004	0.0011	0.0009	0.0001	0	0.0003	0	0	9.406e-05	0	0.0009	0.0009	0.0021	0.72	0.04162	T	0.737	0.05345	T	0.342	0.90584	B	0.142	0.86255	B	0.000023	0.55875	D	0.151914	0.998703	0.21971	N	0.445	0.12748	N	2.35	0.16217	T	0.64	0.03761	N	0.213	0.23758	-1.0323	0.19713	T	0.028	0.12147	T	10	0.010466158	0.00233	T	0.037342	0.57560	D	0.120	0.33359	.	.	0.474248596982	0.47055	0.489012972947932	0.48821	0.467365606854	0.46119	0.59309887886	0.51931	T	0.005761	0.05208	T	-0.5588	0.00258	T	-0.580691	0.14484	T	0.0622629155497048	0.07521	T	0.911709	0.71216	D	0.2247933	0.45129	0.17412324	0.39786	0.2247933	0.45129	0.17412324	0.39785	-4.777	0.44145	T	0.18115727126982825	0.23346	0.081	0.09965	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.899494	0.24122	16.28	0.89985526275771821	0.19278	0.79214	0.39210	D	AEFBI	0.704039	0.65988	D	-0.428959818986816	0.24460	1.320806	-0.424622067489198	0.24278	1.328528	0.994932043090987	0.33870	0.580535	0.33130	0	0.624146	0.53433	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.2	3.38	0.37806	3.988000	0.56662	3.343000	0.37723	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.458000	0.28074	0.0763:0.1395:0.7842:0.0	9.906	0.40544	946	0.12043	.;.;C-type lectin-like|C-type lectin-like|C-type lectin-like|Collectin, C-type lectin-like domain;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1943.98	38	chr2	3643816	.	G	A	1943.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=886;ExcessHet=0.0000;FS=2.634;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.43;ReadPosRankSum=0.101;SOR=1.038	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,117,1518	20	0	1	0
chr2	6849953	6849953	C	T	exonic	CMPK2	.	nonsynonymous SNV	CMPK2:NM_207315:exon5:c.G1247A:p.R416Q,	.	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.947	P	0.5	P	0.000	D	1.000	D	1.75	L	1.0	T	-0.973	T	0.120	T	0.271	4.853	27.7	3.86	0.839	5.144	10.785	0.133	0.0306768574171	.	.	4.972e-05	0	0	0.0001	0	6e-05	0	6.058e-05	3.88e-05	6	154602	rs754020979	3.557e-05	3.557e-05	2.586e-05	4.538e-05	0.0003	2.762e-05	2.501e-05	9.793e-05	7.84e-05	2.987e-05	2.236e-05	0	0	7.488e-05	0.0003	2.518e-05	3.312e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.011	0.64786	D	0.947	0.53479	P	0.5	0.47649	P	0.000000	0.84330	D	0.000000	0.995404	0.81001	D	2.285	0.65182	M	1.0	0.41392	T	-2.74	0.58248	D	0.449	0.48689	-0.9733	0.36496	T	0.120	0.41886	T	10	0.35136688	0.51988	T	0.030677	0.52936	D	0.133	0.36157	.	.	0.727020907511	0.72459	0.539839644015454	0.53908	1.07592574384	0.76966	0.402659386396	0.25439	T	0.065645	0.32742	T	-0.237107	0.15720	T	-0.374765	0.36332	T	0.730006694793701	0.42210	D	0.860814	0.55431	D	0.6508969	0.75412	0.5669144	0.74930	0.6508969	0.75413	0.5669144	0.74931	-5.604	0.42829	T	.	.	0.248	0.48313	B	.	.	4.885937	0.80171	27.3	0.99953597196892163	0.99963	0.96147	0.67748	D	AEFDBI	0.717398	0.66892	D	0.366601864309919	0.59623	4.143106	0.37218432860404	0.59855	4.167065	0.999845794836111	0.43971	0.706298	0.61202	0	0.709663	0.81188	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.69	3.86	0.43689	5.198000	0.64983	1.981000	0.30034	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.745000	0.35611	0.1319:0.8005:0.0:0.0676	10.785	0.45604	977	0.04225	Thymidylate kinase-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1727.98	33	chr2	6849953	.	C	T	1727.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=859;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.50;ReadPosRankSum=-1.532e+00;SOR=0.741	GT:AD:DP:GQ:PL	0/1:58,70:128:99:1742,0,1244	20	0	1	0
chr2	8682467	8682467	C	T	exonic	ID2	.	nonsynonymous SNV	ID2:NM_002166:exon1:c.C302T:p.T101M,	.	.	.	.	.	.	.	.	.	.	.	2375381	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.005	B	0.004	B	0.000	D	1.000	D	1.5	L	.	.	-0.824	T	0.213	T	0.381	3.628	18.45	5.56	2.610	5.661	17.695	0.084	0.00384570315469	.	.	8.31e-05	0	0	0	0	0.0002	0	0	8.41e-05	13	154602	rs200965294	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0	6.708e-05	0	2.519e-05	0	0	0.0003	0.0002	0	6.57e-05	6.567e-05	3.854e-05	9.414e-05	0.0001	3.516e-05	2.616e-05	6.804e-05	5.087e-05	0	0	6.54e-05	0	0	0	0	0.0001	0	0	0.06	0.37326	T	0.026	0.55759	D	0.005	0.12996	B	0.004	0.10090	B	0.000004	0.62929	D	0.139770	0.999998	0.58761	D	2.34	0.67151	M	.	.	.	-2.33	0.51646	N	0.621	0.69649	-0.8238	0.53695	T	0.213	0.57334	T	9	0.27335006	0.44883	T	0.003846	0.08992	T	0.084	0.24469	0.152	0.05544	0.23798241625	0.23396	0.5467115967781618	0.54597	0.439968114871	0.44012	0.729078173637	0.71372	T	0.799813	0.94883	D	-0.155278	0.27488	T	-0.205777	0.54099	T	0.187841265400401	0.19716	T	0.693531	0.30321	T	0.23329414	0.46132	0.1393935	0.33261	0.23329414	0.46132	0.1393935	0.33260	-4.835	0.34997	T	.	.	0.130	0.28948	B	.;.;.	.;.;.	4.237788	0.64232	24.7	0.99676861348092716	0.78977	0.96069	0.67392	D	AEFDBHCI	0.895952	0.83652	D	0.111489856410132	0.46999	2.931797	0.29502357940124	0.55249	3.688035	1.0	0.98316	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.581474	0.35302	0	.	.	5.56	5.56	0.83678	5.737000	0.68246	4.775000	0.44799	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.695	0.88185	969	0.06854	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1566.98	38	chr2	8682467	.	C	T	1566.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=918;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.87;ReadPosRankSum=0.894;SOR=0.692	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1410	20	0	1	0
chr2	8731667	8731667	C	A	exonic	KIDINS220	.	nonsynonymous SNV	KIDINS220:NM_001348734:exon28:c.G4201T:p.V1401F	Spastic paraplegia, intellectual disability, nystagmus, and obesity, Autosomal dominant	.	0	225	1	0	0	1	0.00221729	.	.	1493504	not_provided|KIDINS220-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	N	0.805	L	-0.27	T	-0.211	T	0.381	T	0.731	3.600	18.33	5.92	2.804	2.954	20.321	0.267	0.0331447486705	0.0003	0.000199681	0.0002	0	0.0003	0	0	0.0004	0	0	0.0002264	35	154602	rs201478192	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0008	0.0006	2.987e-05	0.0003	0	0	0	0.0016	0.0003	0.0002	0.0001	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0004	0.0003	4.812e-05	0	0.0004	0	0	0	0	0.0005	0	0	0.009	0.57480	D	0.088	0.40909	T	0.848	0.46844	P	0.536	0.48739	P	0.000455	0.44317	D	0.190366	0.920363	0.36659	D	1.87	0.49600	L	-0.32	0.68181	T	-1.87	0.43717	N	0.546	0.58202	-0.2109	0.77391	T	0.381	0.73759	T	10	0.2126159	0.37727	T	0.033145	0.54776	D	0.267	0.58126	.	.	0.750831387573	0.74858	0.2405650855857398	0.23970	0.791584931825	0.65811	0.600859761238	0.53025	T	0.359211	0.72565	T	-0.0976181	0.36819	T	-0.0330599	0.68166	D	0.0546171766497961	0.06292	T	0.915408	0.69775	D	0.14226788	0.32747	0.181102	0.40951	0.14226788	0.32746	0.181102	0.40951	-2.88	0.08945	T	.	.	0.121	0.29311	B	.;.	.;.	4.304373	0.65746	24.9	0.99658594536209455	0.77757	0.93775	0.59155	D	AEFBI	0.409562	0.48079	N	0.439965944003812	0.63636	4.601221	0.497679677005859	0.67837	5.137661	0.999998498738197	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	5.417000	0.66162	5.998000	0.52441	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	20.321	0.98679	964	0.07719	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1883.98	41	chr2	8731667	.	C	A	1883.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.347;DP=1014;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.56;ReadPosRankSum=1.67;SOR=0.697	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,102,1530	20	0	1	0
chr2	9297357	9297357	G	A	exonic	ASAP2	.	nonsynonymous SNV	ASAP2:NM_001135191:exon3:c.G257A:p.C86Y	.	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.996	D	0.944	D	0.364	N	1.000	D	1.01	L	3.65	T	-1.069	T	0.029	T	0.819	1.273	10.16	5.5	2.573	4.753	19.386	0.197	0.00880189519163	.	0.000798722	9.061e-05	0	8.64e-05	0	0	2.997e-05	0	0.0005	9.7e-05	15	154602	rs548555308	1.573e-05	1.573e-05	6.806e-06	2.475e-05	0.0001	1.048e-05	8.75e-06	7.123e-05	5.481e-05	0	4.472e-05	0	0	0	0	6.295e-06	4.967e-05	0.0001	2.626e-05	2.624e-05	1.285e-05	4.028e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.996	0.68779	D	0.944	0.68059	D	0.363514	0.13634	N	0.757041	0.999996	0.58761	D	0.35	0.11930	N	3.65	0.04267	T	-0.78	0.32791	N	0.319	0.37301	-1.0694	0.09545	T	0.029	0.12278	T	10	0.02712652	0.00864	T	0.008802	0.23221	T	0.197	0.47942	0.484	0.56621	0.704663589556	0.70209	0.8119494874049155	0.81150	1.52778703191	0.87532	0.817018866539	0.84571	D	0.036353	0.24069	T	-0.18834	0.22501	T	-0.212122	0.53493	T	0.0779964402071245	0.09728	T	0.921608	0.71541	D	0.18750057	0.40207	0.23806255	0.49119	0.18750057	0.40206	0.23806255	0.49118	-6.525	0.50800	T	.	.	0.730	0.74194	P	.;.	.;.	4.452875	0.69239	25.3	0.93592856262809176	0.23446	0.94345	0.60869	D	AEFDGBIJ	0.732586	0.67929	D	0.112290840096675	0.47035	2.934982	0.250110359549614	0.52656	3.438985	0.999999999455897	0.74766	0.706298	0.61202	0	0.627178	0.54094	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	4.130000	0.57720	11.782000	0.96139	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.949000	0.49496	0.0:0.0:1.0:0.0	19.386	0.94545	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1186.98	34	chr2	9297357	.	G	A	1186.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.489e+00;DP=838;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.50;ReadPosRankSum=0.864;SOR=0.736	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1158	20	0	1	0
chr2	9374852	9374852	G	A	exonic	ASAP2	.	nonsynonymous SNV	ASAP2:NM_001135191:exon17:c.G1654A:p.E552K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.997	D	0.52	P	0.000	D	1.000	D	1.355	L	0.33	T	-0.802	T	0.202	T	0.566	3.814	19.37	5.27	2.450	9.860	18.882	0.278	0.0246691077813	.	.	1.648e-05	0	0	0	0	1.499e-05	0.0011	0	1.94e-05	3	154602	rs565383190	2.736e-06	3.42e-06	0	5.5e-06	3.478e-05	6.4e-07	4.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	8.993e-07	0	3.478e-05	1.315e-05	1.314e-05	0	2.692e-05	2.414e-05	2.18e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	1.47e-05	0	0	0.046	0.43085	D	0.149	0.32568	T	0.981	0.70673	D	0.09	0.48197	B	0.000002	0.62929	D	0.099941	0.999999	0.58761	D	2.1	0.58353	M	0.33	0.58755	T	-3.03	0.63207	D	0.746	0.74553	-0.8016	0.55050	T	0.202	0.55919	T	10	0.66505086	0.70377	D	0.024669	0.47657	T	0.278	0.59497	0.545	0.65873	0.421022328559	0.41717	0.38175418631873614	0.38090	0.333092236819	0.35346	0.642067790031	0.58858	T	0.226684	0.59178	T	-0.0254106	0.48080	T	-0.177423	0.56760	T	0.898046553134918	0.55007	D	0.940606	0.77652	D	0.44544038	0.63752	0.33407742	0.59238	0.44544038	0.63752	0.33407742	0.59237	-10.91	0.79162	D	.	.	0.175	0.38390	B	.;.	.;.	4.843435	0.79091	27.0	0.99905459597093282	0.97651	0.99358	0.94979	D	AEFBI	0.901892	0.84915	D	0.452045703470728	0.64319	4.683745	0.4960918760676	0.67732	5.123374	1.0	0.98316	0.67177	0.52595	0	0.547309	0.14657	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.27	5.27	0.73797	9.994000	0.99266	11.669000	0.94079	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.395000	0.26670	0.0:0.0:1.0:0.0	18.882	0.92329	790	0.46189	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1424.98	58	chr2	9374852	.	G	A	1424.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.360e-01;DP=1162;ExcessHet=0.0000;FS=3.563;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=0.161;SOR=0.487	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,113,1800	20	0	1	0
chr2	9418676	9418676	G	A	exonic	ITGB1BP1	.	stopgain	ITGB1BP1:NM_001319066:exon2:c.C22T:p.R8X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	6.595	37	4.64	1.273	6.309	12.379	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1053877887	3.421e-06	3.42e-06	5.445e-06	1.375e-06	1.159e-05	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	1.656e-05	1.159e-05	6.593e-06	6.578e-06	0	1.352e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.869	0.86618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595077	0.97509	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Dominant;.;Dominant;.;.;.;.;.;.;.;.;.	High;.;High;.;.;.;.;.;.;.;.;.	8.909490	0.98193	39	0.99807981370357879	0.89174	0.98026	0.78979	D	AEFBI	0.239550	0.36149	N	0.814885133146976	0.87029	9.07882	0.68277328720411	0.81072	7.441855	0.999999881282243	0.74766	0.732398	0.92422	0	0.688494	0.66719	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.54	4.64	0.57399	6.479000	0.73509	9.304000	0.79900	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.6836:0.3164	12.379	0.54627	743	0.52768	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2807.98	44	chr2	9418676	.	G	A	2807.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.107;DP=1033;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=-9.300e-01;SOR=0.667	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1281	20	0	1	0
chr2	9492963	9492963	C	T	exonic	ADAM17	.	nonsynonymous SNV	ADAM17:NM_001382777:exon17:c.G1357A:p.V453I	.	.	0	1514	8	0	0	8	0.00263505	.	.	518750	ADAM17-related_disorder|Inflammatory_skin_and_bowel_disease,_neonatal,_1	.|MONDO:MONDO:0013693,MedGen:C3280501,OMIM:614328,Orphanet:294023	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.13	T	0.999	D	0.929	D	0.000	D	1.000	D	2.605	M	1.73	T	-0.909	T	0.105	T	0.468	5.409	34	5.67	2.666	7.487	19.763	0.165	.	0.0064	0.00439297	0.0091	0.0023	0.0296	0	0.0046	0.0096	0.0048	0.0032	0.0082923	1282	154602	rs61754177	0.0075	0.0076	0.0079	0.0072	0.0247	0.0074	0.0074	0.0235	0.0230	0.0015	0.0247	0.0012	0	0.0053	0.0023	0.0080	0.0069	0.0026	0.0066	0.0066	0.0070	0.0061	0.0128	0.0062	0.0061	0.0113	0.0108	0.0029	0	0.0128	0.0009	0.0006	0.0049	0	0.0088	0.0085	0.0021	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.929	0.66367	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.07	0.87108	M	1.73	0.26445	T	-0.9	0.24244	N	0.575	0.59732	-0.9092	0.46952	T	0.105	0.38440	T	10	0.0096232295	0.00217	T	.	.	.	0.165	0.42395	.	.	0.585511498628	0.58225	0.7926218680777313	0.79215	1.06660827817	0.76643	0.773691654205	0.77977	T	0.193074	0.54842	T	-0.33683	0.05610	T	-0.236337	0.51156	T	0.0405562450304283	0.03791	T	0.978702	0.92553	D	0.44550937	0.63756	0.34848458	0.60488	0.35925072	0.57778	0.41428483	0.65576	-9.296	0.69582	D	.	.	0.518	0.65395	A	.;.	.;.	5.037218	0.83818	28.1	0.99869272522251851	0.94726	0.98955	0.89130	D	AEFDGBI	0.841648	0.75882	D	0.831738355005027	0.88043	9.433349	0.809031004202586	0.90415	10.39654	0.999999999999949	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.67	5.67	0.87673	7.568000	0.81546	5.891000	0.50761	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.763	0.96324	635	0.64580	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1569.98	37	chr2	9492963	.	C	T	1569.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.447;DP=804;ExcessHet=0.0000;FS=2.490;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.27;ReadPosRankSum=-6.430e-01;SOR=0.473	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1065	20	0	1	0
chr2	9845286	9845286	T	C	exonic	TAF1B	.	nonsynonymous SNV	TAF1B:NM_005680:exon2:c.T85C:p.Y29H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.985	D	0.000	D	1.000	D	1.15	L	0.49	T	-0.741	T	0.237	T	0.812	3.796	19.27	5.74	2.194	5.213	13.570	0.339	0.0248866284129	.	0.000199681	2.472e-05	0	0	0	0	4.497e-05	0	0	3.88e-05	6	154602	rs142457164	8.758e-05	8.756e-05	8.441e-05	9.078e-05	0.0003	7.489e-05	7.036e-05	8.302e-05	7.72e-05	0	0.0001	3.828e-05	0	0	0.0003	9.804e-05	0.0001	1.159e-05	3.283e-05	3.281e-05	6.426e-05	0	7.351e-05	1.26e-05	7.97e-06	2.847e-05	1.858e-05	0	0	0	0	0	0	0	7.351e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.048901	1	0.81001	D	2.045	0.56016	M	0.49	0.55775	T	-3.37	0.66665	D	0.598	0.61680	-0.7406	0.58422	T	0.237	0.60379	T	9	0.44752118	0.58491	T	0.024887	0.47875	T	0.339	0.66106	.	.	0.856071475115	0.85468	0.6619175372278572	0.66128	0.619585445273	0.56300	0.708849787712	0.68427	T	0.121551	0.44460	T	-0.00272224	0.51278	T	0.0133591	0.71200	D	0.738775849342346	0.42671	D	0.90281	0.72323	D	0.75710064	0.81283	0.7068559	0.82716	0.75710064	0.81284	0.7068559	0.82717	-7.709	0.59070	D	.	.	0.810	0.77736	P	.;.	.;.	4.864985	0.79640	27.1	0.99807882249100655	0.89174	0.90855	0.52388	D	AEFBI	0.652254	0.62571	D	0.557818488211276	0.70559	5.519391	0.589479278012631	0.74183	6.094086	0.999999983525809	0.74766	0.732398	0.92422	0	0.627608	0.54475	0	0.743671	0.96076	0	0.651492	0.60203	0	.	.	5.74	5.74	0.90070	5.175000	0.64857	7.711000	0.66806	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	13.570	0.61304	952	0.10565	Transcription initiation factor Rrn7, Zinc-finger;Transcription initiation factor Rrn7, Zinc-finger	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1784.98	35	chr2	9845286	.	T	C	1784.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.212;DP=848;ExcessHet=0.0000;FS=2.392;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.39;ReadPosRankSum=-1.475e+00;SOR=0.613	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1218	20	0	1	0
chr2	9933883	9933883	C	A	exonic	TAF1B	.	nonsynonymous SNV	TAF1B:NM_001318977:exon14:c.C901A:p.L301I	.	.	474	1041	7	0	0	7	0.00335089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	B	0.005	B	0.299	N	1.000	N	1.39	L	0.88	T	-1.059	T	0.039	T	0.04	0.900	8.659	-4.64	-0.722	-0.754	3.853	0.007	.	0.0072	0.00519169	0.0027	0.0174	0.0021	0	0	0.0019	0.0011	0.0004	0.002749	425	154602	rs111442552	0.0016	0.0016	0.0016	0.0016	0.0208	0.0015	0.0015	0.0182	0.0177	0.0195	0.0024	0.0088	0	5.617e-05	0.0208	0.0008	0.0048	0.0005	0.0060	0.0060	0.0061	0.0058	0.0168	0.0056	0.0055	0.0157	0.0153	0.0168	0	0.0031	0.0098	0	0	0.0170	0.0014	0.0128	0.0004	0.392	0.10766	T	0.39	0.15506	T	0.008	0.14655	B	0.005	0.11217	B	0.299131	0.03943	N	1.348330	1	0.08975	N	1.555	0.39373	L	0.88	0.46028	T	-0.28	0.11547	N	0.106	0.09066	-1.0589	0.12032	T	0.039	0.16720	T	9	0.0024887323	0.00037	T	.	.	.	0.007	0.00512	.	.	0.158396225186	0.15383	0.09377664092685892	0.09309	0.125861384689	0.14188	0.240375161171	0.02824	T	0.008123	0.07471	T	-0.688955	0.00042	T	-0.748787	0.03534	T	0.00158829461934989	0.00016	T	0.531747	0.17685	T	0.040869363	0.05915	0.031154552	0.01666	0.040869363	0.05915	0.031154552	0.01666	-3.835	0.21328	T	.	.	0.064	0.01738	B	.	.	0.261717	0.06400	2.869	0.83952483406032452	0.15013	0.02127	0.06279	N	AEFBI	0.033020	0.03841	N	-1.16219577407894	0.05582	0.254843	-1.20108002596067	0.05893	0.282098	0.340521237103524	0.19579	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.79	-4.64	0.03109	-0.703000	0.05166	-0.049000	0.12570	-0.313000	0.06017	0.000000	0.06391	0.000000	0.08366	0.980000	0.58198	0.1344:0.4894:0.1455:0.2307	3.853	0.08471	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1238.98	34	chr2	9933883	.	C	A	1238.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=756;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.49;ReadPosRankSum=1.10;SOR=0.772	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1239	20	0	1	0
chr2	10080114	10080114	C	T	exonic	CYS1	.	nonsynonymous SNV	CYS1:NM_001037160:exon1:c.G110A:p.R37Q,	.	.	532	988	2	0	0	2	0.00101112	.	.	2359706	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.988	D	0.261	B	.	.	1.000	N	0.55	N	.	.	-1.046	T	0.037	T	0.153	1.171	9.764	1.08	0.525	-1.389	5.379	0.051	0.0122325593483	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1004399636	8.974e-05	7.662e-05	8.965e-05	8.984e-05	0.0027	7.321e-05	6.776e-05	0.0011	0.0007	0.0011	0.0003	0	0	0	0.0027	6.433e-05	0.0001	0	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0004	0.0003	0.0005	0	0	0	0	0	0	4.545e-05	0.0005	0	0.0	0.91255	D	0.469	0.12281	T	0.988	0.62325	D	0.261	0.39516	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	.	.	.	-0.96	0.25551	N	0.083	0.05929	-1.0465	0.15389	T	0.037	0.16029	T	8	0.11488977	0.21628	T	0.012233	0.30616	T	0.051	0.14325	0.23	0.15705	0.130388298395	0.12655	0.041673436277691586	0.04112	0.156396254559	0.17651	0.64400601387	0.59133	T	0.275187	0.64771	T	-0.193391	0.21762	T	-0.515569	0.20746	T	0.156482118535905	0.17608	T	0.443756	0.12347	T	0.09457463	0.22239	0.10720445	0.25803	0.09457463	0.22239	0.10720445	0.25803	-4.781	0.34369	T	.	.	0.105	0.19073	B	.	.	0.574334	0.09426	6.208	0.86241767459923091	0.16406	0.00129	0.00800	N	AEFDBHCI	0.035420	0.04555	N	-0.755522789406471	0.14483	0.7218603	-0.956026545756782	0.10783	0.5453501	0.999999956340931	0.74766	0.623204	0.39778	0	0.166054	0.03914	2	0.378051	0.06126	2	0.554799	0.18163	0	.	.	1.08	1.08	0.19456	-1.582000	0.02221	0.193000	0.15765	0.410000	0.20643	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:1.0:0.0:0.0	5.379	0.15485	913	0.21160	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	42.32	4	chr2	10080114	.	C	T	42.32	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.740e-01;DP=179;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0451;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.05;ReadPosRankSum=1.44;SOR=0.991	GT:AD:DP:GQ:PL	0/0:4,0:4:12:0,12,143	20	0	1	0
chr2	10791877	10791877	C	T	exonic	PDIA6	.	nonsynonymous SNV	PDIA6:NM_005742:exon6:c.G502A:p.D168N	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.999	D	0.997	D	0.000	D	1.000	D	0.86	L	1.03	T	-0.856	T	0.174	T	0.34	3.020	16.08	4.65	1.451	6.050	15.936	0.102	0.0304947922038	.	0.00159744	0.0012	0	8.639e-05	0.0001	0	0	0	0.0084	0.0009767	151	154602	rs528723508	0.0005	0.0005	0.0003	0.0007	0.0079	0.0005	0.0005	0.0074	0.0072	5.974e-05	4.472e-05	0	0	0	0.0003	1.889e-05	0.0005	0.0079	0.0002	0.0002	0.0001	0.0004	0.0070	0.0002	0.0001	0.0052	0.0045	0	0	0	0	0	0	0	1.47e-05	0	0.0070	0.153	0.35918	T	0.206	0.35205	T	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.875	0.21512	L	1.03	0.40469	T	-0.23	0.10656	N	0.568	0.61002	-0.8558	0.51563	T	0.174	0.51769	T	10	0.0074963868	0.00170	T	0.030495	0.52796	D	0.102	0.29158	0.449	0.50957	0.451882325854	0.44810	0.634688552769764	0.63402	0.300224283399	0.32383	0.666181743145	0.62294	T	0.007236	0.06655	T	-0.436524	0.01355	T	-0.395108	0.33953	T	0.109800757472661	0.13403	T	0.968303	0.88939	D	0.45772636	0.64529	0.18356733	0.41354	0.45772636	0.64530	0.18356733	0.41353	-7.79	0.59630	D	.	.	0.102	0.18037	B	.;.;.;.;.;.	.;.;.;.;.;.	2.931636	0.38952	20.9	0.99706758976920185	0.81005	0.98510	0.83546	D	AEFBI	0.793758	0.72166	D	0.120105945232007	0.47402	2.96634	0.174334506162838	0.48444	3.060322	0.999999999142515	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.54	4.65	0.57626	6.110000	0.71213	4.074000	0.41688	-0.190000	0.09434	1.000000	0.71638	0.999000	0.35428	0.018000	0.11154	0.1363:0.8637:0.0:0.0	15.936	0.79500	787	0.46738	Thioredoxin domain|Thioredoxin domain|Disulphide isomerase;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2445.98	40	chr2	10791877	.	C	T	2445.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.96;DP=896;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.74;ReadPosRankSum=-4.990e-01;SOR=0.656	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1281	20	0	1	0
chr2	10802598	10802598	T	C	exonic	PDIA6	.	nonsynonymous SNV	PDIA6:NM_005742:exon2:c.A62G:p.Y21C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.41	M	1.06	T	-0.086	T	0.368	T	0.951	4.684	25.9	6.03	2.302	7.287	16.566	0.645	0.0500904166695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.492e-06	8.209e-06	1.477e-06	1.508e-06	1.551e-05	2.5e-07	9e-08	.	.	0	0	0	0	0	0	9.476e-07	0	1.551e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.83351	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.08	0.57402	M	1.06	0.39781	T	-7.55	0.95305	D	0.918	0.98065	-0.0856	0.80427	T	0.368	0.72818	T	10	0.855863	0.84782	D	0.05009	0.64095	D	0.645	0.86536	0.543	0.65589	0.778743473999	0.77670	0.6449372733511507	0.64428	0.936948820389	0.72059	0.70856654644	0.68386	T	0.261593	0.63309	T	0.278216	0.81164	D	0.161862	0.80921	D	0.998817980289459	0.95250	D	0.981402	0.95021	D	0.91655755	0.92915	0.8504035	0.91531	0.91655755	0.92916	0.8504035	0.91532	-16.137	0.97959	D	.	.	0.905	0.84405	P	.;.;.;.;.;.	.;.;.;.;.;.	4.652118	0.74163	26.1	0.99849985314069678	0.92925	0.98367	0.82057	D	AEFBI	0.932045	0.92180	D	0.938702500726902	0.93523	12.096	0.879141792078518	0.94596	12.88739	0.999999999999614	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	7.430000	0.79505	7.839000	0.70444	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.566	0.84437	770	0.49152	Thioredoxin domain;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1224.98	42	chr2	10802598	.	T	C	1224.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=910;ExcessHet=0.0000;FS=0.704;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=-1.000e+00;SOR=0.778	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1575	20	0	1	0
chr2	11638723	11638723	C	T	exonic	GREB1	.	nonsynonymous SNV	GREB1:NM_014668:exon32:c.C5600T:p.S1867L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.866	P	0.216	B	0.003	N	1.000	D	1.39	L	3.22	T	-1.107	T	0.053	T	0.26	2.912	15.71	4.34	1.151	3.002	15.718	0.031	0.00929250181933	.	0.000199681	2.485e-05	0	8.643e-05	0.0001	0	0	0	6.058e-05	2.59e-05	4	154602	rs558861861	8.894e-06	8.893e-06	8.168e-06	9.627e-06	0.0002	4.96e-06	3.82e-06	9.89e-06	4.56e-06	5.974e-05	2.236e-05	0	0	0	0.0002	3.598e-06	3.312e-05	3.478e-05	1.313e-05	1.312e-05	1.285e-05	1.343e-05	6.536e-05	2.18e-06	8.2e-07	.	.	2.405e-05	0	6.536e-05	0	0	0	0	0	0	0	0.098	0.30800	T	0.134	0.34241	T	0.866	0.47610	P	0.216	0.37572	B	0.003185	0.35300	N	0.308886	0.987171	0.42890	D	0	0.06538	N	3.22	0.23688	T	-2.68	0.64019	D	0.357	0.39962	-1.1068	0.03359	T	0.053	0.22462	T	10	0.10580769	0.19576	T	0.009293	0.24389	T	0.031	0.07369	0.258	0.20002	0.42069145522	0.41685	0.20573824959630901	0.20490	0.98701007196	0.73944	0.469047188759	0.34549	T	0.019485	0.15513	T	-0.293536	0.09284	T	-0.490292	0.23361	T	0.333655179731828	0.26371	T	0.917108	0.70302	D	0.11122115	0.26284	0.10963509	0.26424	0.11122115	0.26284	0.10963509	0.26423	-3.507	0.16529	T	.	.	0.107	0.21803	B	.;.;.	.;.;.	3.490409	0.48788	22.7	0.99785799977665623	0.87219	0.90190	0.51173	D	AEFDBI	0.498570	0.53261	N	-0.0267872699168857	0.40646	2.417321	-0.0378511088793883	0.38020	2.234141	0.998698574997806	0.37477	0.732398	0.92422	0	0.610034	0.51514	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	5.24	4.34	0.51267	3.060000	0.49648	2.568000	0.33349	0.599000	0.40250	0.716000	0.28781	0.294000	0.24182	0.464000	0.28207	0.0:0.8629:0.1371:0.0	15.718	0.77447	958	0.09170	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	921.98	73	chr2	11638723	.	C	T	921.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.87;DP=760;ExcessHet=0.0000;FS=3.148;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=0.287;SOR=1.121	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,966	20	0	1	0
chr2	15394267	15394267	G	A	exonic	NBAS	.	nonsynonymous SNV	NBAS:NM_015909:exon28:c.C3217T:p.R1073C,	Infantile liver failure syndrome 2, Autosomal recessive;Short stature, optic nerve atrophy, and Pelger-Huet anomaly, Autosomal recessive	.	1	1491	29	1	0	31	0.0102887	.	.	490698	NBAS-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.976	D	0.000	D	1.000	D	1.905	M	2.22	T	-0.613	T	0.242	T	0.45	3.050	16.18	4.61	1.320	3.634	13.436	0.115	0.0618808978286	0.0038	0.00119808	0.0042	0.0009	0.0023	0	0.0010	0.0059	0.0038	0.0050	0.0035252	545	154602	rs147322367	0.0053	0.0053	0.0053	0.0054	0.0080	0.0052	0.0052	0.0061	0.0058	0.0008	0.0029	0.0037	7.578e-05	0.0011	0.0080	0.0060	0.0052	0.0049	0.0033	0.0033	0.0036	0.0029	0.0051	0.0030	0.0029	0.0047	0.0045	0.0010	0	0.0045	0.0040	0	0.0009	0.0068	0.0051	0.0010	0.0031	0.018	0.53900	D	0.007	0.69154	D	1.0	0.90584	D	0.976	0.73562	D	0.000001	0.84330	D	0.097198	0.999999	0.58761	D	2.3	0.65703	M	2.22	0.18248	T	-5.2	0.88630	D	0.444	0.48227	-0.6132	0.64271	T	0.242	0.60976	T	10	0.007463306	0.00170	T	0.061881	0.68475	D	0.141	0.37795	.	.	0.300449992093	0.29664	0.348921561372006	0.34806	0.252082498171	0.27777	0.243393883109	0.03104	T	0.571005	0.85795	D	-0.435798	0.01369	T	-0.396574	0.33784	T	0.0492686088679123	0.05372	T	0.966403	0.87711	D	0.32990417	0.55463	0.25607944	0.51302	0.31883046	0.54541	0.25735137	0.51449	-0.978	0.00975	T	0.5773279320448259	0.64425	0.131	0.28145	B	.;.	.;.	4.484245	0.69992	25.5	0.99462206973165612	0.65840	0.89547	0.50081	D	AEFBI	0.409734	0.48089	N	-0.0597948949969929	0.39166	2.305335	-0.0619124647366199	0.36980	2.15911	0.997420820974992	0.35604	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.48	4.61	0.56724	3.393000	0.52286	7.469000	0.59132	-0.119000	0.14319	0.985000	0.35982	0.999000	0.35428	0.946000	0.48989	0.0766:0.0:0.9234:0.0	13.436	0.60534	759	0.50631	Sec39 domain;Sec39 domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1278.98	35	chr2	15394267	.	G	A	1278.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.019e+00;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=-5.600e-02;SOR=0.718	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1179	20	0	1	0
chr2	15553470	15553470	A	C	exonic	NBAS	.	nonsynonymous SNV	NBAS:NM_015909:exon5:c.T291G:p.N97K,	Infantile liver failure syndrome 2, Autosomal recessive;Short stature, optic nerve atrophy, and Pelger-Huet anomaly, Autosomal recessive	.	2	1519	1	0	0	1	0.000329056	.	.	1520816	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.996	D	0.815	P	0.000	D	0.999	N	1.7	L	0.89	T	-0.943	T	0.139	T	0.211	2.192	13.29	-0.906	-0.337	1.063	8.175	0.138	0.0237317080058	.	0.00119808	0.0003	0	0	0	0	0	0	0.0022	0.0002781	43	154602	rs537542938	0.0002	0.0002	8.462e-05	0.0002	0.0027	0.0001	0.0001	0.0024	0.0023	2.995e-05	6.709e-05	0	0	0	0	0	6.636e-05	0.0027	0.0001	0.0001	6.425e-05	0.0002	0.0033	7.573e-05	6.278e-05	0.0021	0.0017	0	0	6.535e-05	0	0	0	0	0	0.0005	0.0033	0.013	0.53900	D	0.009	0.66756	D	0.996	0.68779	D	0.815	0.58847	P	0.000000	0.84330	D	0.000000	0.999104	0.46078	D	2.485	0.72352	M	0.89	0.45636	T	-2.79	0.59059	D	0.613	0.62950	-0.9430	0.42137	T	0.139	0.45753	T	10	0.016653895	0.00352	T	0.023732	0.46702	T	0.138	0.37187	0.36	0.36385	0.616947796064	0.61385	0.5410744238206066	0.54032	0.25642717194	0.28219	0.691484868526	0.65919	T	0.264308	0.63607	T	-0.473869	0.00804	T	-0.459624	0.26640	T	0.205611604107949	0.20722	T	0.89841	0.64469	D	0.32493228	0.55052	0.291948	0.55220	0.32493228	0.55052	0.291948	0.55219	-5.529	0.42139	T	0.7059342054130937	0.78554	0.734	0.74359	P	.	.	3.575760	0.50385	22.9	0.94879742014605173	0.25709	0.82952	0.42114	D	AEFBI	0.180393	0.30770	N	0.0549660573588127	0.44373	2.712416	-0.0454808981853985	0.37687	2.209969	0.999422712230414	0.39630	0.732398	0.92422	0	0.708844	0.79440	0	0.653264	0.51672	0	0.727631	0.95156	0	.	.	4.57	-0.906	0.09989	0.628000	0.24215	0.256000	0.16486	0.691000	0.84096	0.999000	0.42656	0.410000	0.24754	0.994000	0.71098	0.6506:0.0:0.3494:0.0	8.175	0.30435	476	0.77720	Neuroblastoma-amplified sequence, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	839.98	33	chr2	15553470	.	A	C	839.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.42;DP=770;ExcessHet=0.0000;FS=5.661;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.77;ReadPosRankSum=0.232;SOR=1.371	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1063	20	0	1	0
chr2	15942167	15942167	T	C	exonic	MYCN	.	nonsynonymous SNV	MYCN:NM_001293228:exon2:c.T103C:p.F35L	Feingold syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.677	P	0.518	P	0.234	U	1.000	D	2.77	M	1.49	T	-0.942	T	0.176	T	0.477	3.917	19.92	3.41	1.333	7.790	12.154	0.286	0.044373811311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.33418	T	0.06	0.45744	T	0.677	0.41330	P	0.518	0.48133	P	0.233754	0.03535	U	3.755950	1	0.81001	D	2.93	0.84523	M	1.49	0.31470	T	-4.1	0.74900	D	0.67	0.67822	-0.9421	0.42282	T	0.176	0.51974	T	10	0.64660263	0.69362	D	0.044374	0.61457	D	0.286	0.60456	0.684	0.82175	0.41089407703	0.40707	0.4334101353106042	0.43258	1.96884443498	0.93542	0.8407330513	0.88206	D	0.437509	0.78351	T	-0.0442364	0.45319	T	-0.301319	0.44585	T	0.985664367675781	0.76591	D	0.693531	0.30321	T	0.50143874	0.67179	0.5116405	0.71780	0.50143874	0.67180	0.5116405	0.71780	-9.153	0.68676	D	0.3311317344439049	0.42914	0.986	0.92555	P	.	.	5.096607	0.85133	28.5	0.99534555378436029	0.70087	0.94185	0.60371	D	AEFDBHCIJ	0.906427	0.85918	D	0.426405536680661	0.62880	4.51126	0.387417004661317	0.60788	4.270449	0.999999999989656	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.52208	0.10781	0	0.618803	0.45993	0	.	.	3.41	3.41	0.38145	7.806000	0.84575	5.954000	0.51702	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	12.154	0.53373	961	0.08552	Transcription regulator Myc, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	168.98	34	chr2	15942167	.	T	C	168.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.486e+00;DP=947;ExcessHet=0.0000;FS=158.112;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.71;ReadPosRankSum=3.55;SOR=7.700	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1093	20	0	1	0
chr2	15946035	15946035	G	A	exonic	MYCN	.	nonsynonymous SNV	MYCN:NM_001293231:exon2:c.G700A:p.E234K	Feingold syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.132	B	0.028	B	0.000	D	1.000	D	1.505	L	-2.42	D	0.003	D	0.558	D	0.34	3.921	19.95	4.18	2.553	5.538	14.550	0.376	0.0371175029411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.143	0.33219	T	0.132	0.27209	B	0.028	0.21332	B	0.000000	0.84330	D	0.050805	0.999712	0.48481	D	2.165	0.60562	M	-2.42	0.88611	D	-2.93	0.61284	D	0.395	0.43610	0.003	0.82319	D	0.558	0.83878	D	10	0.42321265	0.57002	T	0.037118	0.57417	D	0.376	0.69443	0.462	0.53079	0.464345556596	0.46058	0.34298800821073144	0.34211	1.4418905105	0.85993	0.5704870224	0.48746	T	0.771374	0.93883	D	0.0693368	0.60769	D	-0.138179	0.60276	T	0.985668301582336	0.76591	D	0.89791	0.64303	D	0.49792138	0.66973	0.32286474	0.58223	0.49792138	0.66974	0.32286474	0.58222	-5.292	0.39864	T	0.17675244821506744	0.22570	0.407	0.59970	A	.;.	.;.	4.100857	0.61141	24.3	0.99891360116435712	0.96513	0.96317	0.68548	D	AEFDBI	0.684090	0.64655	D	0.108999754952485	0.46882	2.921902	0.256105054277514	0.52996	3.471008	0.999999589771732	0.74766	0.645754	0.44609	0	0.563428	0.19063	0	0.696144	0.63334	0	0.586402	0.36253	0	.	.	5.08	4.18	0.48473	5.660000	0.67687	6.441000	0.55653	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.750000	0.35786	0.0751:0.0:0.9249:0.0	14.550	0.67646	961	0.08552	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	909.98	34	chr2	15946035	.	G	A	909.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.980e-01;DP=837;ExcessHet=0.0000;FS=2.383;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.11;ReadPosRankSum=-1.904e+00;SOR=0.487	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1053	20	0	1	0
chr2	17516179	17516179	C	T	exonic	RAD51AP2	.	nonsynonymous SNV	RAD51AP2:NM_001099218:exon1:c.G2237A:p.R746Q	.	.	437	1069	15	1	0	17	0.00788863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.0	B	0.0	B	.	.	1.000	N	0	N	1.98	T	-0.949	T	0.023	T	0.098	0.266	5.436	1.84	-0.011	-0.444	7.759	0.012	.	0.0002	0.000798722	0.0019	0.0001	0.0005	0	0.0003	0.0007	0.0033	0.0105	0.00163	252	154602	rs200773447	0.0011	0.0011	0.0007	0.0015	0.0117	0.0011	0.0010	0.0111	0.0109	2.989e-05	0.0007	0.0058	5.045e-05	5.638e-05	0.0089	0.0002	0.0015	0.0117	0.0006	0.0006	0.0004	0.0008	0.0087	0.0005	0.0005	0.0066	0.0059	4.81e-05	0	0.0012	0.0032	0	0.0002	0.0068	0.0003	0.0005	0.0087	0.632	0.05121	T	0.591	0.08189	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.895	0.01383	N	1.98	0.21865	T	0.79	0.01893	N	0.025	0.00485	-0.9490	0.41143	T	0.023	0.09604	T	9	0.0025319457	0.00038	T	.	.	.	0.012	0.01476	.	.	0.0551355673512	0.04727	0.028590898453410923	0.02809	0.0693334402013	0.07761	0.246480032802	0.03406	T	7.49E-4	0.00347	T	-0.663463	0.00060	T	-0.7164	0.04971	T	0.00516449866850072	0.00056	T	0.217878	0.02755	T	0.034361023	0.03840	0.06580975	0.13390	0.034361023	0.03840	0.06580975	0.13390	-2.718	0.07455	T	.	.	0.086	0.10787	B	.	.	0.467568	0.08370	5.125	0.33072046989265746	0.01951	0.00190	0.01102	N	AEFBI	0.025622	0.01787	N	-1.30129592362483	0.03661	0.1639218	-1.26842011852566	0.04864	0.2304515	0.0225252316555484	0.13437	0.446893	0.09132	0	0.491513	0.07743	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.25	1.84	0.24348	-0.451000	0.06869	-0.971000	0.06745	-0.108000	0.15293	0.000000	0.06391	0.000000	0.08366	0.618000	0.31844	0.0:0.3654:0.0:0.6346	7.759	0.28105	769	0.49307	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2295.98	160	chr2	17516179	.	C	T	2295.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=1279;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.35;ReadPosRankSum=-8.600e-01;SOR=0.726	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	20	0	1	0
chr2	17718077	17718077	C	G	exonic	SMC6	.	nonsynonymous SNV	SMC6:NM_024624:exon11:c.G1092C:p.E364D	.	.	.	.	.	.	.	.	.	1.0000	0.944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.983	D	0.000	D	1.000	D	1.74	L	1.52	T	-0.995	T	0.143	T	0.27	4.343	22.8	3.59	0.777	4.676	11.912	0.201	0.0212465142959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.904e-07	1.847e-05	1.373e-06	0	9.041e-07	0	0	.	.	0	0	0	0	0	0	9.041e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.068	0.49942	T	0.94	0.77913	P	0.796	0.75793	P	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.305	0.65957	M	1.52	0.30669	T	-2.49	0.54217	N	0.456	0.49328	-0.9945	0.31432	T	0.143	0.46459	T	9	0.5550543	0.64470	D	0.021247	0.43989	T	0.201	0.48592	0.72	0.85496	0.439445477881	0.43565	0.39608735440883663	0.39523	0.785247102179	0.65485	0.576108396053	0.49537	T	0.117911	0.43834	T	-0.126733	0.32025	T	-0.419819	0.31095	T	0.95919793844223	0.65469	D	0.882812	0.61002	D	0.4057743	0.61131	0.30099767	0.56132	0.4057743	0.61131	0.30099767	0.56132	-4.967	0.36479	T	.	.	0.496	0.64380	A	.;.;.;.;.	.;.;.;.;.	5.135708	0.85965	28.8	0.99795594030637791	0.88106	0.94334	0.60835	D	AEFBHCI	0.722747	0.67258	D	0.443120586177463	0.63814	4.622516	0.423846892171514	0.63056	4.531784	0.999999999395155	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.38	3.59	0.40253	4.629000	0.60988	4.754000	0.44676	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.8588:0.0:0.1412	11.912	0.52030	533	0.73433	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	111.88	29	chr2	17718077	.	C	G	111.88	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-1.178e+00;DP=478;ExcessHet=0.0000;FS=52.231;InbreedingCoeff=0.3522;MLEAC=1;MLEAF=0.036;MQ=60.00;MQRankSum=0.00;QD=4.14;ReadPosRankSum=1.88;SOR=5.130	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:15,0:15:0:.:.:0,0,0	13	0	1	7
chr2	20034361	20034361	C	A	exonic	LAPTM4A	.	nonsynonymous SNV	LAPTM4A:NM_014713:exon6:c.G583T:p.V195L,	.	.	425	1089	8	0	0	8	0.00365965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.001	B	0.002	B	0.007	N	0.996	N	0	N	0.83	T	-1.087	T	0.004	T	0.097	0.956	8.900	-0.653	0.048	0.130	0.670	0.073	.	0.0033	0.013778	0.0164	0.0021	0.1343	0.0037	0.0079	0.0044	0.0088	0.0015	0.0153426	2372	154602	rs145912850	0.0080	0.0080	0.0087	0.0072	0.1182	0.0078	0.0078	0.1155	0.1145	0.0013	0.1182	0.0004	0.0107	0.0089	0.0014	0.0044	0.0064	0.0016	0.0096	0.0096	0.0091	0.0101	0.0587	0.0092	0.0090	0.0555	0.0542	0.0018	0	0.0587	0.0006	0.0060	0.0094	0.0136	0.0046	0.0118	0.0027	0.704	0.04120	T	0.357	0.17115	T	0.001	0.07471	B	0.002	0.06944	B	0.007232	0.31521	N	0.388327	0.995843	0.23185	N	-0.2	0.04182	N	0.83	0.47815	T	-0.14	0.09135	N	0.065	0.03726	-1.0869	0.06066	T	0.004	0.01192	T	10	0.0022448897	0.00033	T	.	.	.	0.073	0.21317	0.243	0.17677	.	.	0.4450729483368901	0.44425	0.169155865248	0.19067	0.281187802553	0.07658	T	0.008983	0.08204	T	-0.685148	0.00045	T	-0.649823	0.08966	T	0.0149082550684807	0.00317	T	0.782722	0.41876	T	0.016347824	0.00192	0.024465334	0.00467	0.016347824	0.00191	0.024465334	0.00467	-6.95	0.53668	T	.	.	0.065	0.01884	B	.	.	0.769123	0.11391	8.003	0.80228681106544608	0.13104	0.61554	0.31518	D	AEFDBCIJ	0.285988	0.39848	N	-0.743564163042064	0.14809	0.7408525	-0.580905262750224	0.19991	1.075085	0.940328133608867	0.27427	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.723	0.93126	0	.	.	5.85	-0.653	0.10872	0.131000	0.15696	1.044000	0.23581	0.599000	0.40250	0.734000	0.28964	0.649000	0.25954	0.931000	0.46843	0.4398:0.1547:0.1648:0.2406	0.670	0.00803	933	0.16026	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1369.98	33	chr2	20034361	.	C	A	1369.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=811;ExcessHet=0.0000;FS=3.520;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=-1.237e+00;SOR=1.088	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1304	20	0	1	0
chr2	20283096	20283096	T	A	exonic	PUM2	.	nonsynonymous SNV	PUM2:NM_001282752:exon11:c.A1403T:p.Y468F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.999	D	0.995	D	0.000	D	1.000	D	1.795	L	2.43	T	-1.050	T	0.114	T	0.57	4.722	26.3	6.17	2.371	7.736	16.822	0.244	0.0200638685408	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1215173873	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.038	0.42783	D	0.615	0.15109	T	0.999	0.77913	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.04	0.26193	L	2.13	0.19588	T	-1.38	0.36385	N	0.64	0.65245	-1.0495	0.14537	T	0.114	0.40467	T	10	0.35929072	0.52600	T	0.020064	0.42574	T	0.244	0.55061	0.403	0.43408	0.0934897674506	0.08844	0.5202006340569856	0.51943	1.14252962427	0.78974	0.697671890259	0.66808	T	0.034447	0.23326	T	-0.0470009	0.44902	T	-0.30529	0.44164	T	0.800291240215302	0.46372	D	0.998065	0.99120	D	.	.	.	.	.	.	.	.	-4.237	0.27284	T	.	.	0.231	0.46378	B	.;.;.;.;.	.;.;.;.;.	4.354857	0.66921	25.0	0.98832637871561502	0.46985	0.96621	0.70062	D	AEDGBHCIJ	0.882694	0.81102	D	0.65374646415072	0.76614	6.518692	0.691310684756011	0.81719	7.59283	1.0	0.98316	0.719381	0.83141	0	0.724815	0.89359	0	0.702456	0.68683	0	0.733575	0.97253	0	.	.	6.17	6.17	0.99707	7.822000	0.84804	7.931000	0.75020	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.822	0.85699	818	0.41518	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1884.98	33	chr2	20283096	.	T	A	1884.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.32;DP=803;ExcessHet=0.0000;FS=3.402;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.71;ReadPosRankSum=0.390;SOR=0.414	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1381	20	0	1	0
chr2	20651060	20651060	-	CATGACGGCGGCGGGGACTC	exonic	HS1BP3	.	frameshift insertion	HS1BP3:NM_022460:exon1:c.3_4insGAGTCCCCGCCGCCGTCATG:p.Q2Efs*28,	.	.	411	1108	3	0	0	3	0.00135196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1440859218	3.046e-05	2.463e-05	3.676e-05	2.343e-05	0.0002	2.172e-05	1.911e-05	4.097e-05	2.107e-05	0	0	0	0	0	0	2.928e-05	6.855e-05	0.0002	1.971e-05	1.97e-05	2.569e-05	1.345e-05	4.411e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	463.94	29	chr2	20651060	.	G	GCATGACGGCGGCGGGGACTC	463.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.116;DP=520;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=24.42;ReadPosRankSum=0.211;SOR=1.123	GT:AD:DP:GQ:PL	0/0:21,0:21:57:0,57,855	20	0	1	0
chr2	20667365	20667365	-	GGCGGCGGC	exonic	GDF7	.	nonframeshift insertion	GDF7:NM_182828:exon1:c.126_127insGGCGGCGGC:p.G50_R51insGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6818	3157.26	2	chr2	20667362	.	GGGC	GGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGCGGC,G	3157.26	.	AC=11,3,2;AF=0.500,0.136,0.091;AN=22;DP=140;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6169;MLEAC=18,5,2;MLEAF=0.818,0.227,0.091;MQ=60.00;QD=28.56;SOR=0.766	GT:AD:DP:GQ:PL	./.:.:0:0:0,0,0,0,0,0,0,0,0,0	3	5	0	10
chr2	20667365	20667365	-	GGCGGCGGCGGCGGCGGC	exonic	GDF7	.	nonframeshift insertion	GDF7:NM_182828:exon1:c.126_127insGGCGGCGGCGGCGGCGGC:p.G50_R51insGGGGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6818	3157.26	2	chr2	20667362	.	GGGC	GGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGCGGC,G	3157.26	.	AC=11,3,2;AF=0.500,0.136,0.091;AN=22;DP=140;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6169;MLEAC=18,5,2;MLEAF=0.818,0.227,0.091;MQ=60.00;QD=28.56;SOR=0.766	GT:AD:DP:GQ:PL	./.:.:0:0:0,0,0,0,0,0,0,0,0,0	3	5	0	10
chr2	21002482	21002482	T	C	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon29:c.A12940G:p.I4314V,	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	.	1	1508	13	0	0	13	0.00429185	.	.	238599	not_specified|Familial_hypobetalipoproteinemia_1|Hypercholesterolemia,_autosomal_dominant,_type_B|Cardiovascular_phenotype|not_provided|Hypercholesterolemia,_familial,_1|Familial_hypercholesterolemia	MedGen:CN169374|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.47	T	0.01	B	0.007	B	0.031	N	0.736	D	1.195	L	5.83	T	-0.887	T	0.002	T	0.089	0.663	7.554	-0.094	0.110	-0.104	6.437	0.010	0.0135688463301	0.0068	0.00419329	0.0059	0.0015	0.0016	0	0.0026	0.0090	0.0055	0.0038	0.0061642	953	154602	rs72654423	0.0079	0.0079	0.0080	0.0077	0.0095	0.0078	0.0077	0.0093	0.0092	0.0013	0.0020	3.833e-05	5.042e-05	0.0029	0.0026	0.0095	0.0064	0.0037	0.0055	0.0055	0.0060	0.0050	0.0098	0.0052	0.0051	0.0091	0.0089	0.0015	0	0.0035	0	0.0002	0.0022	0.0068	0.0098	0.0024	0.0056	0.281	0.15458	T	0.817	0.03863	T	.	.	.	.	.	.	0.031288	0.25189	N	0.337595	1	0.08975	N	.	.	.	5.83	0.00652	T	-0.57	0.17210	N	0.05	0.02179	-0.8875	0.49147	T	0.002	0.00556	T	10	0.0038571954	0.00073	T	0.013569	0.33074	T	0.010	0.01040	.	.	0.231873229951	0.22792	0.12268873498809205	0.12194	0.0333722288845	0.03491	0.462339639664	0.33631	T	.	.	.	-0.674738	0.00051	T	-0.731603	0.04255	T	0.00316936208187777	0.00033	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.26886	B	.	.	-0.153083	0.03340	0.587	0.57643191457303833	0.05815	0.18874	0.20437	N	AEFBCI	0.377377	0.46117	N	-1.01349481841357	0.08324	0.3898555	-1.04597286067555	0.08791	0.4339804	0.868844812583667	0.25373	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.41	-0.0944	0.12981	-0.085000	0.11215	0.251000	0.16428	0.609000	0.47794	0.002000	0.15269	0.034000	0.21380	0.010000	0.09038	0.0:0.1773:0.3958:0.4269	6.437	0.21031	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	1834.98	40	chr2	21002482	.	T	C	1834.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.375e+00;DP=1619;ExcessHet=0.0000;FS=0.644;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.80;ReadPosRankSum=-7.460e-01;SOR=0.623	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	20	0	1	0
chr2	21003040	21003040	C	T	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon29:c.G12382A:p.V4128M,	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	YES	1	1501	19	1	0	21	0.00694674	.	.	366335	not_specified|Hypercholesterolemia,_autosomal_dominant,_type_B|not_provided|Hypercholesterolemia,_familial,_1|Cardiovascular_phenotype|Familial_hypobetalipoproteinemia_1|Familial_hypercholesterolemia	MedGen:CN169374|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MedGen:C3661900|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN230736|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.45	T	0.004	B	0.002	B	0.051	N	1.000	N	-0.6	N	1.47	T	-1.057	T	0.016	T	0.055	-0.523	1.616	-12.0	-2.864	-1.892	5.102	0.024	.	0.0067	0.00339457	0.0062	0.0009	0.0059	0	0.0064	0.0080	0.0146	0.0049	0.0058602	906	154602	rs1801703	0.0072	0.0072	0.0073	0.0072	0.0100	0.0071	0.0071	0.0079	0.0079	0.0017	0.0043	0.0007	7.656e-05	0.0054	0.0100	0.0081	0.0075	0.0052	0.0056	0.0056	0.0057	0.0054	0.0093	0.0053	0.0051	0.0087	0.0085	0.0016	0	0.0046	0.0012	0	0.0048	0.0034	0.0093	0.0052	0.0029	0.618	0.05341	T	0.684	0.06033	T	.	.	.	.	.	.	0.051185	0.02021	N	1.899840	1	0.08975	N	.	.	.	1.47	0.31987	T	0.16	0.05217	N	0.065	0.03726	-1.0567	0.12595	T	0.016	0.06425	T	10	0.0028062165	0.00044	T	.	.	.	0.024	0.04979	.	.	0.149567049428	0.14543	0.09888669999826209	0.09819	0.0368754698301	0.03907	0.182299241424	0.00117	T	.	.	.	-0.723562	0.00026	T	-0.804162	0.01801	T	0.00187586309304137	0.00019	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.09045	B	.	.	-0.778509	0.01150	0.054	0.56985998092514478	0.05670	0.04011	0.09439	N	AEFGBHCI	0.241675	0.36325	N	-2.3493621597773	0.00035	0.001513355	-2.3987015562225	0.00039	0.001737205	0.999999999999984	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.99	-12.0	0.00013	-1.855000	0.01755	-8.347000	0.00985	-0.688000	0.04154	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2677:0.4423:0.1244:0.1655	5.102	0.14098	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	2146.98	40	chr2	21003040	.	C	T	2146.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.19;DP=1029;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=-1.094e+00;SOR=0.675	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	20	0	1	0
chr2	21007033	21007033	T	C	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon26:c.A9835G:p.S3279G,	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	.	0	1455	64	3	0	70	0.0234899	.	.	215238	Hypercholesterolemia,_autosomal_dominant,_type_B|not_specified|Familial_hypobetalipoproteinemia_1|Familial_hypercholesterolemia|not_provided|Hypercholesterolemia,_familial,_1|Cardiovascular_phenotype	MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MedGen:CN169374|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:C3661900|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.991	D	0.913	D	0.232	N	1.000	D	2.995	M	1.1	T	-0.676	T	0.159	T	0.029	1.334	10.38	3.41	0.579	3.329	11.412	0.264	.	0.0086	0.0071885	0.0044	0.0159	0.0067	0	0	0.0039	0.0121	0.0012	0.0044307	685	154602	rs12720854	0.0033	0.0033	0.0032	0.0033	0.0565	0.0032	0.0031	0.0515	0.0495	0.0184	0.0064	0.0102	0	0.0001	0.0565	0.0025	0.0065	0.0013	0.0076	0.0077	0.0076	0.0077	0.0170	0.0073	0.0071	0.0160	0.0156	0.0170	0	0.0103	0.0136	0.0002	0	0.0646	0.0029	0.0137	0.0010	0.015	0.52492	D	0.003	0.76473	D	.	.	.	.	.	.	0.232473	0.15889	N	0.611296	0.64386	0.30592	N	.	.	.	1.1	0.39050	T	-1.98	0.45769	N	0.246	0.27792	-0.6764	0.61538	T	0.159	0.49262	T	10	0.004425019	0.00090	T	.	.	.	0.264	0.57741	.	.	0.68203097115	0.67932	0.4890100810306947	0.48821	0.0491091118445	0.05371	0.247466355562	0.03505	T	.	.	.	-0.577868	0.00199	T	-0.589218	0.13734	T	0.0582436336760406	0.06889	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.15115	B	.	.	1.757170	0.22349	15.58	0.98647528733884859	0.44137	0.94699	0.62026	D	AEFBHCI	0.702324	0.65873	D	0.205179900652132	0.51449	3.326111	-0.00190597407924668	0.39631	2.352652	0.999990155919605	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.6	3.41	0.38145	3.427000	0.52552	0.098000	0.14610	0.665000	0.62972	1.000000	0.71638	0.000000	0.08366	0.120000	0.19168	0.0:0.0:0.1512:0.8488	11.412	0.49171	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.07143	34170.68	37	chr2	21007033	.	T	C	34170.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.423e+00;DP=3883;ExcessHet=0.3300;FS=0.520;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=-6.800e-01;SOR=0.635	GT:AD:DP:GQ:PL	0/1:482,480:964:99:11659,0,12064	18	0	3	0
chr2	21015495	21015495	C	T	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon22:c.G3383A:p.R1128H,	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	.	0	1506	15	1	0	17	0.00561241	.	.	265379	Familial_hypobetalipoproteinemia_1|Hypercholesterolemia,_autosomal_dominant,_type_B|not_specified|APOB-related_disorder|Familial_hypercholesterolemia|not_provided|Hypercholesterolemia,_familial,_1|Cardiovascular_phenotype|Primary_familial_dilated_cardiomyopathy	MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MedGen:CN169374|.|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:C3661900|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN230736|MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS115200,Orphanet:217607	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.399	B	0.045	B	0.000	N	1.000	D	2.125	M	5.65	T	-0.767	T	0.003	T	0.717	3.691	18.75	3.52	1.432	0.128	9.926	0.184	0.0257199592383	0.0032	0.00279553	0.0037	0.0008	0.0032	0.0001	0.0018	0.0041	0	0.0070	0.0037063	573	154602	rs12713843	0.0046	0.0046	0.0046	0.0046	0.0068	0.0045	0.0045	0.0056	0.0055	0.0009	0.0037	0.0001	2.519e-05	0.0023	0.0068	0.0050	0.0050	0.0061	0.0038	0.0038	0.0041	0.0034	0.0079	0.0035	0.0034	0.0059	0.0052	0.0007	0	0.0044	0	0.0004	0.0021	0	0.0059	0.0057	0.0079	0.096	0.31088	T	0.002	0.79402	D	.	.	.	.	.	.	0.000295	0.46274	N	0.096408	0.533726	0.31996	D	.	.	.	5.65	0.00784	T	-1.68	0.40082	N	0.372	0.41360	-0.7674	0.57000	T	0.003	0.01026	T	10	0.007625997	0.00173	T	0.02572	0.48675	D	0.184	0.45763	.	.	0.530852358449	0.52733	0.5349439724085757	0.53419	0.0427700385688	0.04614	0.22615134716	0.01696	T	.	.	.	-0.397544	0.02403	T	-0.337282	0.40654	T	0.0214380577430334	0.00847	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04806	B	.	.	2.995653	0.40013	21.1	0.99908515955343014	0.97875	0.75412	0.36921	D	AEFBHCI	0.230590	0.35395	N	-0.0202030940790056	0.40942	2.440185	0.0445583706668865	0.41809	2.518083	0.991941940083341	0.32664	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.43	3.52	0.39415	0.144000	0.15956	-0.390000	0.09482	0.599000	0.40250	0.797000	0.29682	0.000000	0.08366	0.999000	0.91618	0.136:0.7906:0.0:0.0735	9.926	0.40661	863	0.32847	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	2026.98	34	chr2	21015495	.	C	T	2026.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.07;DP=851;ExcessHet=0.0000;FS=2.097;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.88;ReadPosRankSum=2.13;SOR=0.528	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1205	20	0	1	0
chr2	21029921	21029921	C	T	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon11:c.G1447A:p.D483N,	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.982	D	0.864	P	0.038	N	1.000	D	2.125	M	1.03	T	-0.600	T	0.245	T	0.071	5.497	35	5.25	2.625	6.880	19.227	0.255	0.0629676229478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	.	.	.	.	.	.	0.038455	0.24284	N	0.388875	0.999994	0.58761	D	.	.	.	1.03	0.40469	T	-2.32	0.65858	N	0.28	0.34874	-0.5995	0.64838	T	0.245	0.61342	T	10	0.39019972	0.54835	T	0.062968	0.68822	D	0.255	0.56562	0.481	0.56142	0.742757694822	0.74044	0.19589680735917472	0.19506	0.239657820895	0.26511	0.364478468895	0.20036	T	0.030043	0.21388	T	-0.190369	0.22204	T	-0.511229	0.21188	T	0.990632653236389	0.80861	D	0.882712	0.60367	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.17657	B	.;.	.;.	4.259562	0.64723	24.7	0.99917958489079794	0.98518	0.99043	0.90392	D	AEFBHCI	0.927466	0.91017	D	0.755075219499161	0.83237	7.964561	0.737518103788646	0.85221	8.516555	0.99999999999997	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.25	5.25	0.73169	6.780000	0.74837	4.925000	0.46078	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	19.227	0.93806	869	0.31655	.;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1387.98	38	chr2	21029921	.	C	T	1387.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.230e-01;DP=879;ExcessHet=0.0000;FS=0.678;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=-2.320e-01;SOR=0.771	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,108,1620	20	0	1	0
chr2	21034831	21034831	G	A	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon8:c.C889T:p.R297C,	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	538562	Cardiovascular_phenotype|Hypercholesterolemia,_familial,_1|Familial_hypobetalipoproteinemia_1|Hypercholesterolemia,_autosomal_dominant,_type_B|not_provided	MedGen:CN230736|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.003	N	1.000	D	2.545	M	1.0	T	-0.527	T	0.250	T	0.772	3.921	19.94	3.07	1.416	4.079	11.687	0.385	0.0963889400119	.	.	0.0001	9.612e-05	8.637e-05	0.0002	0	1.498e-05	0.0022	0.0004	9.06e-05	14	154602	rs766376456	4.442e-05	4.858e-05	3.322e-05	5.57e-05	0.0004	3.56e-05	3.24e-05	0.0003	0.0003	0	2.237e-05	3.844e-05	2.525e-05	0	0	2.013e-05	5.032e-05	0.0004	7.886e-05	7.88e-05	3.854e-05	0.0001	0.0008	4.497e-05	3.513e-05	0.0003	0.0002	0.0001	0	0	0.0003	0	0	0	2.94e-05	0	0.0008	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.002545	0.36353	N	0.103199	0.999973	0.53665	D	.	.	.	1.0	0.41392	T	-5.28	0.93404	D	0.364	0.52829	-0.5274	0.67639	T	0.250	0.61923	T	10	0.28714454	0.46297	T	0.096389	0.76594	D	0.385	0.70194	0.626	0.76141	0.718403584121	0.71592	0.5434712448268765	0.54273	0.27742654238	0.30220	0.366382628679	0.20312	T	0.389375	0.74982	T	-0.14261	0.29477	T	-0.081832	0.64770	T	0.68950574082363	0.40225	D	0.935006	0.75597	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533	0.66042	A	.;.	.;.	5.069210	0.84532	28.3	0.9990089342712769	0.97275	0.90514	0.51753	D	AEFBHCI	0.874237	0.79702	D	0.631970731827702	0.75207	6.265307	0.553205971643641	0.71619	5.682729	0.999999933177039	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.08	3.07	0.34476	4.072000	0.57282	7.401000	0.58575	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.452:0.548	11.687	0.50757	867	0.32089	.;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	902.98	36	chr2	21034831	.	G	A	902.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.130e-01;DP=789;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.15;ReadPosRankSum=0.182;SOR=0.743	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1166	20	0	1	0
chr2	21138038	21138038	C	T	exonic	TDRD15	.	nonsynonymous SNV	TDRD15:NM_001306137:exon4:c.C571T:p.R191C,	.	.	435	1079	7	1	0	9	0.00415321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	.	.	.	.	.	.	.	.	.	.	2.17	T	-1.016	T	0.047	T	0.479	1.768	11.87	0.823	-0.127	-0.026	5.133	0.069	0.0106146990254	.	0.000798722	0.0011	0.0019	0	0	0	0.0015	0	0.0011	0.0005045	78	154602	rs140081299	0.0025	0.0022	0.0024	0.0026	0.0036	0.0024	0.0023	0.0035	0.0034	0.0004	0.0008	0.0007	0	0.0009	0.0015	0.0036	0.0022	0.0014	0.0017	0.0017	0.0019	0.0015	0.0032	0.0015	0.0015	0.0029	0.0027	0.0005	0	0.0008	0	0	0.0002	0	0.0032	0	0.0010	0.116	0.28395	T	0.055	0.46862	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.17	0.19020	T	-0.27	0.11366	N	0.148	0.15046	-1.0159	0.25045	T	0.047	0.20077	T	5	0.009122252	0.00206	T	0.010615	0.27345	T	0.069	0.20116	.	.	0.47290127212	0.46918	0.3073515180210649	0.30648	.	.	.	.	.	0.003838	0.03252	T	-0.508213	0.00514	T	-0.505211	0.21808	T	0.0153492083285648	0.00342	T	0.681532	0.29028	T	0.056685116	0.11184	0.04772613	0.06937	0.056685116	0.11184	0.04772613	0.06937	-3.155	0.11939	T	.	.	0.067	0.03093	B	.;.	.;.	0.684153	0.10526	7.239	0.95715190508235115	0.27631	0.19950	0.20858	N	AEFI	0.136805	0.25759	N	-0.398226230460818	0.25533	1.386683	-0.418497842186151	0.24454	1.339207	1.29450436108755E-5	0.02871	0.500041	0.20204	0	0.573888	0.26702	0	0.573888	0.23631	0	0.503917	0.08554	0	.	.	5.73	0.823	0.17950	-0.012000	0.12637	-1.345000	0.05662	-0.187000	0.09635	0.067000	0.21986	0.000000	0.08366	0.982000	0.59238	0.1381:0.3779:0.0:0.484	5.133	0.14253	690	0.58899	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	5021.11	35	chr2	21138038	.	C	T	5021.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.40;DP=1374;ExcessHet=0.1072;FS=0.521;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.01;ReadPosRankSum=-2.570e-01;SOR=0.699	GT:AD:DP:GQ:PL	0/0:98,0:98:99:0,120,1800	19	0	2	0
chr2	23642776	23642776	C	T	exonic	KLHL29	.	nonsynonymous SNV	KLHL29:NM_052920:exon5:c.C866T:p.S289L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.584	P	0.087	B	0.211	N	0.978	D	0.695	N	-0.5	T	-0.816	T	0.167	T	0.351	2.497	14.31	4.11	1.243	4.076	8.589	0.079	0.0457000056311	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411801256	2.861e-06	3.42e-06	4.234e-06	1.45e-06	1.262e-05	6.7e-07	4.5e-07	.	.	0	0	0	0	0	0	9.269e-07	3.449e-05	1.262e-05	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.002	0.72154	D	0.049	0.48336	D	.	.	.	.	.	.	0.211056	0.16365	N	0.546809	0.978381	0.39457	D	0.55	0.14455	N	-0.5	0.70480	T	-1.72	0.40850	N	0.253	0.28616	-0.8161	0.54177	T	0.167	0.50567	T	10	0.14892223	0.28194	T	0.046	0.62104	D	0.089	0.25827	.	.	0.504418060211	0.50079	0.2145854782293303	0.21374	.	.	0.564594089985	0.47915	T	0.03654	0.24141	T	-0.0211479	0.48691	T	-0.268154	0.48007	T	0.60908180475235	0.36763	D	0.878912	0.59457	D	0.109232835	0.25826	0.14959982	0.35316	0.109232835	0.25826	0.14959982	0.35316	-4.03	0.24251	T	.	.	0.123	0.25624	B	.	.	3.614362	0.51120	23.0	0.9973917056861249	0.83337	0.95864	0.66482	D	AEFDBI	0.264415	0.38176	N	-0.138670890869019	0.35718	2.055205	0.00469578817001326	0.39932	2.375268	0.998253914858459	0.36648	0.562547	0.31514	0	0.653731	0.59785	0	0.603688	0.36954	0	0.635551	0.53088	0	.	.	4.99	4.11	0.47350	4.129000	0.57713	7.616000	0.62106	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.739000	0.35404	0.1514:0.7709:0.0:0.0778	8.589	0.32836	930	0.16408	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	537.98	35	chr2	23642776	.	C	T	537.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.370e-01;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.78;ReadPosRankSum=-7.130e-01;SOR=0.634	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,104,1169	20	0	1	0
chr2	23757445	23757445	C	T	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon25:c.G4036A:p.V1346I	.	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.004	B	0.006	B	0.110	N	1.000	N	0	N	-2.82	D	-0.608	T	0.343	T	0.073	0.433	6.352	4.37	2.618	0.547	8.687	0.250	.	0.0068	0.00359425	0.0051	0.0025	0.0031	0	0.0015	0.0071	0.0064	0.0030	0.0048124	744	154602	rs115642848	0.0072	0.0069	0.0073	0.0071	0.0084	0.0071	0.0071	0.0083	0.0082	0.0009	0.0038	0.0015	0	0.0012	0.0021	0.0084	0.0065	0.0032	0.0049	0.0049	0.0054	0.0044	0.0080	0.0046	0.0045	0.0074	0.0072	0.0019	0.0121	0.0059	0.0020	0	0.0005	0	0.0080	0.0033	0.0012	0.228	0.18434	T	0.496	0.11335	T	.	.	.	.	.	.	0.110496	0.02635	N	2.046150	1	0.08975	N	.	.	.	-2.82	0.91192	D	-0.32	0.12283	N	0.043	0.01577	-0.6081	0.64483	T	0.343	0.70843	T	10	0.0034483075	0.00061	T	.	.	.	0.250	0.55888	.	.	0.318725805183	0.31479	0.1377668747295541	0.13700	0.393016670011	0.40480	0.337053000927	0.15996	T	.	.	.	-0.446068	0.01191	T	-0.404127	0.32905	T	0.0066725747609963	0.00075	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.04041	B	.	.	1.421653	0.18386	13.71	0.70920187119254596	0.09455	0.06660	0.12678	N	AEFBI	0.045237	0.07376	N	-0.506495873182796	0.21870	1.163765	-0.354123607718254	0.26382	1.456837	0.999970182163048	0.50053	0.562547	0.31514	0	0.653731	0.59785	0	0.463624	0.06942	0	0.654926	0.60358	0	.	.	5.26	4.37	0.51830	0.568000	0.23326	0.591000	0.19822	0.599000	0.40250	0.031000	0.20493	0.000000	0.08366	0.980000	0.58198	0.0:0.8074:0.0:0.1926	8.687	0.33407	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1143.98	34	chr2	23757445	.	C	T	1143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.620e+00;DP=778;ExcessHet=0.0000;FS=4.348;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=-1.339e+00;SOR=0.361	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1262	20	0	1	0
chr2	23864893	23864893	T	C	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon11:c.A1220G:p.H407R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.006	B	0.017	B	.	.	0.956	D	0.26	N	-3.53	D	-0.892	T	0.148	T	0.262	1.849	12.14	5.84	2.367	4.223	16.532	0.084	0.0116478170939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.077e-06	4.105e-06	4.129e-06	0	2.717e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.717e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09048	T	0.527	0.10209	T	.	.	.	.	.	.	.	.	.	.	0.955574	0.37932	D	.	.	.	-3.53	0.94764	D	-1.58	0.38151	N	0.19	0.20793	-0.8923	0.48731	T	0.148	0.47344	T	9	0.17789313	0.32846	T	0.011648	0.29486	T	0.219	0.51417	0.331	0.31681	0.672754582956	0.66998	0.6648068104265349	0.66417	0.60285670828	0.55282	0.627035319805	0.56724	T	.	.	.	0.0664316	0.60411	T	-0.142352	0.59914	T	0.361597471305519	0.27471	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11845	B	.	.	3.381871	0.46779	22.4	0.96857722296242954	0.31369	0.92978	0.57018	D	AEFBI	0.378817	0.46207	N	0.214845505970457	0.51920	3.369515	0.360670962237465	0.59152	4.090821	0.916302595852516	0.26509	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	4.206000	0.58271	6.222000	0.55136	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.532	0.84210	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.325	1873.78	24	chr2	23864893	.	T	C	1873.78	.	AC=13;AF=0.325;AN=40;BaseQRankSum=-1.572e+00;DP=1254;ExcessHet=11.8493;FS=218.613;InbreedingCoeff=-0.4705;MLEAC=13;MLEAF=0.325;MQ=60.00;MQRankSum=0.00;QD=2.15;ReadPosRankSum=0.843;SOR=11.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:48,36:84:99:.:.:271,0,469	7	0	13	1
chr2	23888385	23888385	G	C	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon3:c.C383G:p.P128R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.919	P	0.587	P	.	.	0.955	N	0	N	0.81	T	-0.159	T	0.594	D	0.276	2.656	14.84	4.5	2.236	2.334	10.924	0.251	0.0702449395243	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1331466314	6.949e-07	1.368e-06	0	1.397e-06	1.215e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.215e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.72154	D	0.51	0.10821	T	0.919	0.50927	P	0.587	0.50368	P	.	.	.	.	0.955118	0.26345	N	.	.	.	-2.95	0.91903	D	-0.94	0.39119	N	0.283	0.32037	-0.1592	0.78691	T	0.594	0.85486	D	9	0.16723457	0.31207	T	0.070245	0.70949	D	0.251	0.56024	0.274	0.22528	0.393040851499	0.38920	0.2849975761602241	0.28412	0.677873480531	0.59851	0.509379267693	0.40135	T	0.021792	0.16908	T	-0.0159126	0.49434	T	-0.148143	0.59408	T	0.399020214584755	0.28905	T	0.865113	0.56350	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.34775	B	.;.	.;.	4.524028	0.70963	25.6	0.99418220361339993	0.63645	0.91221	0.53098	D	AEFBI	0.263138	0.38074	N	0.0916920692683371	0.46075	2.853634	0.196023661031655	0.49628	3.163765	0.00607420510638251	0.11122	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.5	4.5	0.54382	3.175000	0.50556	11.817000	0.97118	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1419:0.0:0.8581:0.0	10.924	0.46395	505	0.75648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1062.98	33	chr2	23888385	.	G	C	1062.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.418;DP=790;ExcessHet=0.0000;FS=0.753;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.42;ReadPosRankSum=-1.410e-01;SOR=0.587	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1319	20	0	1	0
chr2	24077647	24077647	G	C	exonic	TP53I3	.	nonsynonymous SNV	TP53I3:NM_001206802:exon4:c.C734G:p.P245R	.	.	421	1094	7	0	0	7	0.00318907	.	.	2282939	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.038	B	0.003	B	0.051	N	0.993	N	.	.	2.38	T	-1.067	T	0.028	T	0.143	3.763	19.11	4.13	2.521	3.524	7.043	0.050	0.00495532351969	7.7e-05	.	0.0003	9.614e-05	0	0	0	0.0003	0	0.0007	0.0002458	38	154602	rs201865216	0.0002	0.0002	0.0002	0.0002	0.0092	0.0002	0.0002	0.0072	0.0065	0.0001	8.944e-05	0.0002	0	0	0.0092	0.0001	0.0002	0.0007	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	9.236e-05	0.0005	0.0004	4.813e-05	0	0.0001	0.0003	0	0	0.0034	0.0002	0	0.0012	0.59	0.05808	T	0.657	0.06576	T	0.004	0.12183	B	0.002	0.06944	B	0.051034	0.23018	N	0.399838	1	0.08975	N	.	.	.	2.38	0.15843	T	-0.54	0.16598	N	0.095	0.07535	-1.0667	0.10154	T	0.028	0.12014	T	9	0.037288755	0.02074	T	0.004955	0.12473	T	0.050	0.13987	.	.	0.483816155017	0.48013	0.5446661161741544	0.54392	0.345908601457	0.36496	0.293431699276	0.09425	T	0.036564	0.24153	T	-0.54155	0.00328	T	-0.654882	0.08616	T	0.0900005921721458	0.11219	T	0.732227	0.34774	T	0.11055438	0.26131	0.07534827	0.16579	0.11055438	0.26131	0.07534827	0.16579	-6.754	0.52216	T	.	.	0.108	0.20586	B	.;.	.;.	2.910952	0.38609	20.8	0.99804357515803555	0.88906	0.18870	0.20436	N	AEFDGBCIJ	0.139784	0.26149	N	-0.143730876917905	0.35503	2.040018	-0.0512046228558069	0.37439	2.192045	0.999999998405991	0.74766	0.733237	0.96898	0	0.685571	0.66316	0	0.600757	0.32118	0	0.657601	0.63696	0	.	.	5.07	4.13	0.47661	3.597000	0.53777	6.951000	0.57024	0.676000	0.76740	0.986000	0.36153	1.000000	0.68203	0.983000	0.59808	0.1015:0.2693:0.6292:0.0	7.043	0.24208	211	0.91797	Polyketide synthase, enoylreductase domain;Polyketide synthase, enoylreductase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1005.98	39	chr2	24077647	.	G	C	1005.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.495e+00;DP=940;ExcessHet=0.0000;FS=5.033;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.27;ReadPosRankSum=-4.670e-01;SOR=1.203	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	20	0	1	0
chr2	24254381	24254381	T	C	exonic	ITSN2	.	nonsynonymous SNV	ITSN2:NM_001348182:exon23:c.A2819G:p.Y940C	.	.	429	1092	1	0	0	1	0.000457666	.	.	2797545	not_provided|ITSN2-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.18	T	0.001	B	0.001	B	0.004	U	0.922	N	0	N	1.57	T	-1.087	T	0.026	T	0.161	0.520	6.820	-5.66	-1.111	0.358	6.519	0.049	0.0104704500214	.	0.000599042	0.0004	0	0	0.0061	0	0	0	0	0.0003687	57	154602	rs201295238	0.0001	0.0001	0.0001	0.0002	0.0048	0.0001	0.0001	0.0042	0.0040	8.973e-05	2.237e-05	0	0.0048	0	0.0002	9.004e-06	0.0002	3.481e-05	0.0003	0.0003	0.0002	0.0003	0.0058	0.0002	0.0002	0.0042	0.0036	0.0002	0	0	0	0.0058	0	0	1.47e-05	0.0009	0	0.181	0.22400	T	0.164	0.31125	T	0.0	0.07471	B	0.001	0.04355	B	0.004188	0.34013	U	0.000000	0.922257	0.27265	N	0	0.06538	N	1.57	0.29342	T	-0.74	0.32791	N	0.113	0.10056	-1.0873	0.05995	T	0.026	0.11264	T	10	0.007881463	0.00179	T	0.01047	0.27045	T	0.049	0.13647	.	.	0.537170616986	0.53368	0.7682370015963108	0.76772	0.188594219505	0.21179	0.303411543369	0.10911	T	0.089309	0.38345	T	-0.588224	0.00172	T	-0.612593	0.11776	T	0.00243003524415305	0.00025	T	0.152985	0.01314	T	0.04390964	0.06928	0.03728498	0.03349	0.04390964	0.06927	0.03728498	0.03349	-4.107	0.30784	T	.	.	0.060	0.01470	B	.;.;.;.	.;.;.;.	1.523226	0.19552	14.32	0.7061894601431602	0.09355	0.37712	0.25824	N	AEFBI	0.052396	0.09347	N	-1.32308043800597	0.03412	0.1523835	-1.27295184062213	0.04799	0.2272665	0.74677296602855	0.23297	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.22	-5.66	0.02255	0.352000	0.19851	-0.692000	0.07835	-0.831000	0.02872	0.779000	0.29461	0.000000	0.08366	0.393000	0.26625	0.0:0.3528:0.2342:0.413	6.519	0.21459	401	0.82673	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1080.98	34	chr2	24254381	.	T	C	1080.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=766;ExcessHet=0.0000;FS=0.872;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.22;ReadPosRankSum=0.996;SOR=0.798	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1325	20	0	1	0
chr2	24758086	24758086	A	G	exonic	NCOA1	.	nonsynonymous SNV	NCOA1:NM_147233:exon19:c.A3995G:p.N1332S	.	.	421	1045	52	4	0	60	0.027907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.99	D	0.763	P	0.000	D	0.986	D	1.5	L	4.44	T	-1.035	T	0.018	T	0.156	3.771	19.15	3.82	0.897	4.694	10.626	0.128	.	0.0007	0.00579073	0.0042	0.0003	0.0008	0	0	0.0015	0.0033	0.0237	0.0037839	585	154602	rs150066931	0.0023	0.0023	0.0015	0.0032	0.0251	0.0023	0.0022	0.0242	0.0239	0.0001	0.0009	0.0097	0	9.36e-05	0.0191	0.0006	0.0030	0.0251	0.0018	0.0018	0.0013	0.0023	0.0226	0.0016	0.0015	0.0192	0.0179	0.0002	0	0.0034	0.0087	0.0002	0	0.0340	0.0008	0.0043	0.0226	0.038	0.49613	D	0.332	0.19246	T	0.586	0.63424	P	0.28	0.56556	B	0.000052	0.53742	D	0.165920	0.986487	0.40439	D	1.265	0.31966	L	4.44	0.02387	T	-1.95	0.45222	N	0.558	0.58287	-1.0348	0.18920	T	0.018	0.07234	T	10	0.007268876	0.00165	T	.	.	.	0.128	0.35103	.	.	0.465451373931	0.46169	0.09971257647709561	0.09902	0.682184877528	0.60094	0.605033278465	0.53615	T	0.180548	0.53192	T	-0.545155	0.00312	T	-0.5376	0.18533	T	0.0387270623869613	0.03461	T	0.830117	0.49576	T	0.10007006	0.23624	0.11117565	0.26814	0.10007006	0.23624	0.11117565	0.26814	-4.195	0.29693	T	.	.	0.103	0.36554	B	.;.;.;.;.;.	.;.;.;.;.;.	2.309185	0.29559	18.16	0.998768665370665	0.95410	0.92824	0.56635	D	AEFGBI	0.542611	0.55828	D	0.32565091433849	0.57468	3.914282	0.335407971965068	0.57633	3.929775	0.977072808704369	0.29785	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.01	3.82	0.43153	3.684000	0.54403	3.587000	0.39177	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.9228:0.0:0.0771:0.0	10.626	0.44696	425	0.81160	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1740.11	39	chr2	24758086	.	A	G	1740.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.52;DP=798;ExcessHet=0.1072;FS=1.296;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=0.361;SOR=0.811	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1175	19	0	2	0
chr2	24816746	24816746	C	T	exonic	CENPO	.	nonsynonymous SNV	CENPO:NM_001199803:exon5:c.C677T:p.P226L	.	.	434	1073	15	0	0	15	0.00694123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.007	B	0.003	B	0.992	N	1.000	N	0.49	N	0.96	T	-1.030	T	0.048	T	0.178	1.083	9.422	-2.0	-0.344	-0.312	1.202	0.012	0.00421721436022	0.0013	0.000798722	0.0016	0.0004	0.0015	0	0	0.0018	0.0044	0.0028	0.0013907	215	154602	rs146239018	0.0012	0.0012	0.0011	0.0013	0.0106	0.0012	0.0011	0.0085	0.0077	0.0007	0.0013	0.0131	0	0	0.0106	0.0008	0.0026	0.0022	0.0011	0.0011	0.0012	0.0011	0.0019	0.0010	0.0009	0.0014	0.0012	0.0004	0	0.0019	0.0127	0	0.0002	0.0068	0.0009	0.0033	0.0019	0.387	0.10945	T	0.221	0.26798	T	0.002	0.14184	B	0.001	0.08700	B	0.992455	0.08021	N	0.996520	1	0.08975	N	0.455	0.12820	N	0.96	0.43279	T	-1.61	0.38734	N	0.171	0.20528	-1.0299	0.20487	T	0.048	0.20474	T	10	0.0072517693	0.00165	T	0.004217	0.10184	T	0.012	0.01476	.	.	0.162503812791	0.15892	0.3182500386346372	0.31738	0.136192186029	0.15359	0.244991227984	0.03258	T	0.026267	0.19473	T	-0.585376	0.00179	T	-0.618555	0.11299	T	0.00501719910607361	0.00054	T	0.623338	0.24021	T	0.019508561	0.00483	0.02648668	0.00740	0.019508561	0.00483	0.02648668	0.00740	-1.69	0.02203	T	.	.	0.077	0.06433	B	.;.;.	.;.;.	0.522659	0.08917	5.695	0.67942492072413341	0.08507	0.13914	0.18121	N	AEFGBCI	0.080761	0.16334	N	-1.3862766043433	0.02766	0.122598	-1.38463751934033	0.03415	0.1592506	0.999908788023726	0.45458	0.730579	0.87903	0	0.702456	0.74545	0	0.702456	0.68683	0	0.648885	0.59868	0	.	.	6.08	-2.0	0.07024	-0.225000	0.09156	-0.223000	0.10745	-0.906000	0.02296	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.211:0.3613:0.1031:0.3246	1.202	0.01771	356	0.85138	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1797.98	34	chr2	24816746	.	C	T	1797.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.394;DP=828;ExcessHet=0.0000;FS=0.640;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=0.617;SOR=0.792	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1346	20	0	1	0
chr2	24918953	24918953	T	C	exonic	ADCY3	.	nonsynonymous SNV	ADCY3:NM_001320613:exon2:c.A35G:p.Y12C	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.002	B	0.002	B	0.066	N	1.000	D	0.41	N	0.85	T	-0.758	T	0.269	T	0.367	1.797	11.97	2.96	0.620	1.430	9.691	0.145	0.0577367480094	.	.	2.939e-05	0	0	0	0	2.731e-05	0	8.182e-05	1.29e-05	2	154602	rs775553008	4.13e-06	4.788e-06	0	8.306e-06	4.669e-05	1.49e-06	9.8e-07	1.59e-05	9.35e-06	0	0	0	0	0	0	1.803e-06	0	4.669e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.41637	T	0.122	0.45744	T	0.002	0.09854	B	0.002	0.06944	B	0.066242	0.21823	N	0.452851	0.978879	0.39505	D	1.79	0.46772	L	-1.4	0.80474	T	-1.43	0.77143	N	0.21	0.23380	-0.7583	0.57498	T	0.269	0.64088	T	10	0.12669769	0.24088	T	0.057737	0.67070	D	0.145	0.38592	0.147	0.05039	0.712508127112	0.70999	0.5355224935663793	0.53477	0.595676403535	0.54834	0.761642277241	0.76174	T	0.424454	0.77488	T	-0.0451456	0.45181	T	-0.201995	0.54458	T	0.112580279380554	0.13690	T	0.878312	0.59309	D	0.34845617	0.56946	0.15410785	0.36183	0.34845617	0.56946	0.15410785	0.36182	-6.555	0.50709	T	.	.	0.075	0.21840	B	.;.;.;.	.;.;.;.	3.081644	0.41459	21.4	0.97849400931914565	0.36385	0.76994	0.37809	D	AEFDGBCI	0.483267	0.52378	N	-0.440482095496127	0.24063	1.29673	-0.294764897775868	0.28271	1.574897	0.99999771895305	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.526803	0.08958	0	.	.	4.15	2.96	0.33383	1.427000	0.34489	5.047000	0.46963	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.1754:0.8246	9.691	0.39290	284	0.88763	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1755.98	34	chr2	24918953	.	T	C	1755.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=865;ExcessHet=0.0000;FS=2.558;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.57;ReadPosRankSum=-2.510e-01;SOR=0.899	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr2	25141399	25141399	A	G	exonic	EFR3B	.	nonsynonymous SNV	EFR3B:NM_001319099:exon17:c.A1783G:p.M595V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.007	B	0.009	B	0.000	D	0.776	N	0	N	1.59	T	-1.060	T	0.032	T	0.266	2.468	14.21	-0.992	0.271	0.659	8.128	0.051	0.00743439084095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.43e-05	2.326e-05	2.821e-05	2.029e-05	3.059e-05	1.749e-05	1.543e-05	2.181e-05	1.919e-05	0	0	0	0	0	0	3.059e-05	1.724e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.56456	D	0.034	0.64786	D	0.006	0.14184	B	0.009	0.14300	B	0.000051	0.53742	D	0.124126	0.775911	0.29386	N	0.895	0.22405	L	1.57	0.29342	T	-1.23	0.35399	N	0.299	0.38027	-1.0598	0.11805	T	0.032	0.13898	T	10	0.12768352	0.24283	T	0.007434	0.19712	T	0.051	0.14325	0.507	0.60232	0.0401082797425	0.02173	0.5221415511963132	0.52137	.	.	0.435189276934	0.29919	T	0.041403	0.25847	T	-0.185839	0.22870	T	-0.504722	0.21859	T	0.694706797599792	0.40467	D	0.971903	0.91674	D	0.18841374	0.40339	0.19827443	0.43652	0.18841374	0.40339	0.19827443	0.43651	-5.68	0.48069	T	.	.	0.187	0.40328	B	.;.;.;.;.	.;.;.;.;.	2.450666	0.31553	18.78	0.96146348989340658	0.28853	0.70656	0.34681	D	AEFDBHCI	0.337466	0.43525	N	-0.549991173131911	0.20484	1.080151	-0.40403145465097	0.24878	1.364875	0.243722196748508	0.18601	0.615465	0.37627	0	0.60822	0.50512	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.25	-0.992	0.09709	0.666000	0.24779	2.296000	0.31988	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.988000	0.63387	0.3696:0.5025:0.0:0.1279	8.128	0.30170	564	0.70960	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1614.98	34	chr2	25141399	.	A	G	1614.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.450e-01;DP=829;ExcessHet=0.0000;FS=1.423;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=-5.570e-01;SOR=0.630	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1420	20	0	1	0
chr2	25455439	25455439	C	T	exonic	DTNB	.	nonsynonymous SNV	DTNB:NM_001320935:exon9:c.G523A:p.A175T	.	.	429	1079	13	1	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.721	P	0.373	B	0.001	D	1.000	D	1.525	L	2.15	T	-1.003	T	0.134	T	0.774	3.038	16.14	5.11	2.530	5.439	16.389	0.134	.	0.0005	0.00758786	0.0052	0.0004	0.0005	0.0011	0	0.0005	0.0019	0.0305	0.0028395	439	154602	rs199516072	0.0015	0.0016	0.0009	0.0021	0.0222	0.0015	0.0014	0.0213	0.0210	0.0001	0.0001	0.0007	0.0006	0	0.0033	0.0002	0.0018	0.0222	0.0009	0.0009	0.0007	0.0012	0.0232	0.0008	0.0008	0.0197	0.0184	0.0002	0	6.538e-05	0.0009	0.0012	0	0	0.0002	0	0.0232	0.343	0.15665	T	0.407	0.16522	T	0.08	0.24543	B	0.045	0.24526	B	0.000669	0.42516	D	0.232463	0.999942	0.81001	D	2.25	0.63811	M	2.15	0.19726	T	-0.95	0.25332	N	0.718	0.77413	-1.0027	0.29139	T	0.134	0.44759	T	10	0.0074544847	0.00169	T	.	.	.	0.134	0.36365	.	.	0.432716982437	0.42889	0.15673944924620525	0.15594	0.133755554543	0.15066	0.695877432823	0.66549	T	0.284973	0.65776	T	-0.293436	0.09293	T	-0.177357	0.56766	T	0.0282841799250838	0.01729	T	0.972803	0.90184	D	0.10997439	0.25997	0.11933652	0.28803	0.10997439	0.25997	0.11933652	0.28803	-6.364	0.49228	T	.	.	0.110	0.27762	B	.;.;.;.;.	.;.;.;.;.	4.292717	0.65474	24.8	0.99676218906900671	0.78912	0.93840	0.59343	D	AEFDBI	0.679671	0.64362	D	0.123100685847709	0.47543	2.978446	0.27331378484753	0.53987	3.565137	0.999999987433493	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.11	5.11	0.69188	5.414000	0.66145	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	16.389	0.83361	517	0.74620	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1484.98	35	chr2	25455439	.	C	T	1484.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.169e+00;DP=807;ExcessHet=0.0000;FS=1.398;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=-9.500e-01;SOR=0.548	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1203	20	0	1	0
chr2	25531539	25531539	G	A	exonic	DTNB	.	nonsynonymous SNV	DTNB:NM_001320935:exon7:c.C323T:p.T108M	.	.	431	1077	14	0	0	14	0.00645756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.72	P	0.417	B	0.013	N	0.996	N	0	N	2.23	T	-1.030	T	0.069	T	0.209	2.648	14.81	4.21	2.381	2.034	11.377	0.061	0.00823607720504	0.0005	0.000998403	0.0011	0.0001	8.64e-05	0	0	0.0005	0.0022	0.0055	0.0009508	147	154602	rs200652614	0.0009	0.0009	0.0007	0.0011	0.0062	0.0009	0.0008	0.0058	0.0056	0.0003	0.0002	3.826e-05	0	0	0.0031	0.0006	0.0006	0.0062	0.0008	0.0008	0.0007	0.0009	0.0058	0.0007	0.0006	0.0041	0.0036	0.0003	0	0.0002	0	0.0002	0	0	0.0011	0.0009	0.0058	0.008	0.59928	D	0.054	0.48336	T	0.466	0.42342	P	0.172	0.44992	B	0.013371	0.28863	N	0.401503	0.99781	0.23152	N	0.69	0.16971	N	2.23	0.18570	T	-1.0	0.26843	N	0.204	0.28028	-1.0296	0.20583	T	0.069	0.28147	T	10	0.0072978735	0.00166	T	0.008236	0.21827	T	0.061	0.17616	.	.	0.502939388887	0.49933	0.14946176049510504	0.14868	0.223345546484	0.24863	0.383333981037	0.22729	T	0.26617	0.63809	T	-0.537402	0.00347	T	-0.543075	0.17995	T	0.0105567362376186	0.00147	T	0.979302	0.92791	D	0.037670348	0.04875	0.065603696	0.13322	0.037670348	0.04874	0.065603696	0.13321	-7.893	0.65523	D	.	.	0.090	0.13737	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.071897	0.60509	24.2	0.99506871877872161	0.68381	0.78110	0.38489	D	AEFDI	0.198230	0.32510	N	-0.0276785468109839	0.40606	2.414228	0.128982196412533	0.46039	2.856465	0.980569735747186	0.30151	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.15	4.21	0.48984	2.175000	0.42119	7.290000	0.58051	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.903000	0.43903	0.0:0.312:0.688:0.0	11.377	0.48971	721	0.55360	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	898.98	33	chr2	25531539	.	G	A	898.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.598;DP=783;ExcessHet=0.0000;FS=1.724;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.99;ReadPosRankSum=0.758;SOR=0.748	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1084	20	0	1	0
chr2	25743927	25743927	C	G	exonic	ASXL2	.	nonsynonymous SNV	ASXL2:NM_001369347:exon10:c.G1630C:p.E544Q	Shashi-Pena syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.996	D	0.867	P	0.038	N	1.000	N	1.95	M	2.2	T	-1.009	T	0.087	T	0.146	1.672	11.55	5.84	2.769	1.374	9.119	0.092	0.00709644128227	.	.	2.484e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs760941065	5.473e-06	5.472e-06	2.723e-06	8.252e-06	9.276e-05	2.35e-06	1.7e-06	4.579e-05	3.273e-05	0	0	0	0	0	0	0	0	9.276e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.56456	D	0.378	0.28120	T	0.996	0.68779	D	0.867	0.61644	P	0.038245	0.24307	N	0.404030	1	0.08975	N	2.045	0.56016	M	2.2	0.18875	T	-0.4	0.13805	N	0.051	0.02272	-1.0090	0.27230	T	0.087	0.33830	T	10	0.07023817	0.10191	T	0.007096	0.18814	T	0.092	0.26621	0.185	0.09388	0.151262610727	0.14761	0.2658854872934252	0.26501	0.363869704645	0.38005	0.329218834639	0.14816	T	0.066304	0.32912	T	-0.381056	0.03069	T	-0.548469	0.17472	T	0.131017088890076	0.15476	T	0.851815	0.54540	D	0.13432796	0.31214	0.04645729	0.06480	0.13432796	0.31214	0.04645729	0.06480	-3.316	0.18219	T	0.11588830251526225	0.10419	0.086	0.16800	B	.;.;.	.;.;.	3.276713	0.44877	22.0	0.95812697034290328	0.27888	0.32322	0.24557	N	AEFGBCI	0.075225	0.15099	N	0.0451371775420274	0.43918	2.67555	0.0182462025221623	0.40562	2.422749	0.999996539438399	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	1.196000	0.31807	7.611000	0.61914	0.599000	0.40250	0.001000	0.13787	1.000000	0.68203	0.994000	0.71098	0.0:0.8463:0.0:0.1537	9.119	0.35937	704	0.57414	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	923.98	37	chr2	25743927	.	C	G	923.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.350e-01;DP=770;ExcessHet=0.0000;FS=4.812;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=-1.656e+00;SOR=0.503	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr2	25750067	25750067	C	T	exonic	ASXL2	.	nonsynonymous SNV	ASXL2:NM_001369347:exon9:c.G709A:p.A237T	Shashi-Pena syndrome, Autosomal dominant	.	425	1062	34	1	0	36	0.0166667	.	.	697505	not_provided|ASXL2-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.57	T	0.024	B	0.009	B	0.022	N	0.980	N	1.52	L	2.24	T	-1.029	T	0.025	T	0.122	1.645	11.46	4.22	1.566	0.440	11.181	0.079	0.00780264859159	0.0038	0.00139776	0.0038	0.0004	0.0033	0	0.0005	0.0057	0.0067	0.0019	0.0038551	596	154602	rs192716734	0.0045	0.0045	0.0045	0.0046	0.0232	0.0044	0.0044	0.0200	0.0188	0.0011	0.0061	0.0083	0	0.0011	0.0232	0.0049	0.0053	0.0018	0.0042	0.0041	0.0043	0.0040	0.0093	0.0039	0.0038	0.0081	0.0076	0.0010	0.0011	0.0093	0.0115	0	0.0011	0.0476	0.0054	0.0057	0.0010	0.034	0.44358	D	0.376	0.16182	T	0.024	0.19075	B	0.009	0.14300	B	0.021661	0.26787	N	0.445872	0.980241	0.25126	N	2.045	0.56016	M	2.24	0.18248	T	-0.89	0.24026	N	0.106	0.09066	-1.0294	0.20649	T	0.025	0.10688	T	10	0.0029503405	0.00048	T	0.007803	0.20694	T	0.079	0.23065	.	.	0.0675242888579	0.06100	0.22718209133153866	0.22633	0.124778172504	0.14054	0.325251996517	0.14216	T	0.060297	0.31349	T	-0.595465	0.00155	T	-0.625647	0.10746	T	0.00537184867181338	0.00058	T	0.70513	0.31558	T	0.040606186	0.05827	0.060843907	0.11654	0.036956888	0.04647	0.06953732	0.14664	-3.332	0.14656	T	0.12593753146672473	0.12621	0.071	0.08705	B	.;.;.	.;.;.	1.725236	0.21960	15.42	0.94025882486374557	0.24136	0.28129	0.23469	N	AEFGBI	0.044503	0.07168	N	-0.613328401915829	0.18542	0.9635463	-0.491562414355824	0.22384	1.215579	0.943501586285711	0.27572	0.706548	0.73137	0	0.71359	0.82159	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.01	4.22	0.49153	0.729000	0.25696	0.856000	0.22183	-0.176000	0.10722	0.058000	0.21700	0.999000	0.35428	0.956000	0.50813	0.0:0.8518:0.0:0.1482	11.181	0.47858	704	0.57414	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1695.98	35	chr2	25750067	.	C	T	1695.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.063e+00;DP=845;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=0.493;SOR=0.668	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1226	20	0	1	0
chr2	25981310	25981310	G	A	exonic	KIF3C	.	nonsynonymous SNV	KIF3C:NM_002254:exon1:c.C608T:p.A203V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.113	B	0.141	B	0.000	D	0.991	D	0.3	N	-0.95	T	-0.788	T	0.226	T	0.135	2.055	12.83	4.79	1.398	7.966	12.486	0.202	0.0460144413445	.	0.000998403	0.0007	0	0	0	0	0	0	0.0048	0.0005433	84	154602	rs557851986	0.0003	0.0003	0.0002	0.0004	0.0043	0.0002	0.0002	0.0040	0.0038	0	0	0	2.519e-05	0	0	2.698e-06	0.0003	0.0043	0.0001	0.0001	5.139e-05	0.0002	0.0039	8.162e-05	6.719e-05	0.0026	0.0021	0	0	0	0	0	0	0	0	0	0.0039	0.056	0.38185	T	0.056	0.46632	T	.	.	.	.	.	.	0.000252	0.46924	D	0.218753	0.991073	0.41302	D	.	.	.	-0.95	0.75438	T	-2.52	0.54702	D	0.171	0.20528	-0.7885	0.55817	T	0.226	0.59121	T	10	0.014927536	0.00313	T	0.046014	0.62257	D	0.202	0.48754	0.42	0.46200	0.507610542083	0.50399	0.3637966472103065	0.36293	1.10394199327	0.77820	0.688171565533	0.65442	T	.	.	.	-0.395754	0.02468	T	-0.340434	0.40296	T	0.146591477632964	0.16829	T	0.934007	0.75281	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.27968	B	.;.	.;.	4.804555	0.78095	26.8	0.9908135896408925	0.51978	0.93052	0.57205	D	AEFGBCI	0.824717	0.74456	D	-0.0827396643560503	0.38149	2.229983	0.0996839180261705	0.44533	2.733245	0.999999999697884	0.74766	0.660085	0.49399	0	0.588066	0.40923	0	0.719019	0.79029	0	0.651492	0.60203	0	.	.	5.67	4.79	0.60909	8.092000	0.89357	9.994000	0.83002	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0812:0.0:0.9188:0.0	12.486	0.55218	395	0.83006	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1587.98	34	chr2	25981310	.	G	A	1587.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.300e-02;DP=899;ExcessHet=0.0000;FS=0.607;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.52;ReadPosRankSum=-1.610e+00;SOR=0.629	GT:AD:DP:GQ:PL	0/1:87,64:151:99:1602,0,2287	20	0	1	0
chr2	26187385	26187385	C	T	exonic	GAREM2	.	nonsynonymous SNV	GAREM2:NM_001168241:exon6:c.C1753T:p.R585W,	.	.	416	1104	1	1	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.001	B	0.001	B	0.022	N	1.000	D	-0.255	N	2.55	T	-0.972	T	0.013	T	0.167	0.339	5.837	0.279	0.124	-0.509	3.797	0.010	0.00588985232661	.	0.000399361	0.0001	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs531671860	6.883e-05	6.84e-05	6.79e-05	6.979e-05	0.0016	5.759e-05	5.352e-05	0.0008	0.0006	0	0.0002	0	5.613e-05	0	0.0016	5.943e-05	5.188e-05	0.0001	4.595e-05	4.593e-05	7.709e-05	1.342e-05	6.536e-05	2.107e-05	1.526e-05	1.972e-05	1.124e-05	4.811e-05	0	6.536e-05	0	0	0	0	5.88e-05	0	0	0.272	0.15930	T	0.334	0.18340	T	0.001	0.07471	B	0.001	0.04355	B	0.022319	0.26659	N	0.253149	1	0.81001	D	.	.	.	2.55	0.13795	T	1.02	0.01369	N	0.145	0.14622	-0.9719	0.36798	T	0.013	0.04938	T	10	0.018396497	0.00400	T	0.00589	0.15340	T	0.010	0.01040	0.336	0.32491	0.18274738541	0.17906	0.3525873005778629	0.35172	.	.	0.427709966898	0.28895	T	0.007649	0.07043	T	-0.520055	0.00440	T	-0.69265	0.06236	T	0.0264945357234851	0.01473	T	0.79622	0.43953	T	0.057437103	0.11430	0.029678956	0.01332	0.057437103	0.11430	0.029678956	0.01332	-4.378	0.29257	T	.	.	0.096	0.15160	B	.	.	1.087613	0.14711	11.26	0.80891568483269394	0.13418	0.01771	0.05557	N	AEFDBI	0.108481	0.21579	N	-1.21917698885769	0.04722	0.2137293	-1.17443662429275	0.06339	0.3048518	0.999949110414203	0.47345	0.651	0.46895	0	0.633656	0.55848	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	5.2	0.279	0.14929	-0.621000	0.05655	-0.047000	0.12595	-0.314000	0.05961	0.000000	0.06391	0.000000	0.08366	0.206000	0.22070	0.6116:0.2098:0.0:0.1786	3.797	0.08260	693	0.58582	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1510.98	37	chr2	26187385	.	C	T	1510.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.000e-03;DP=832;ExcessHet=0.0000;FS=0.683;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=-8.620e-01;SOR=0.818	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1236	20	0	1	0
chr2	26191330	26191330	C	T	exonic	HADHA	.	nonsynonymous SNV	HADHA:NM_000182:exon20:c.G2212A:p.A738T,	Fatty liver, acute, of pregnancy, Autosomal recessive;HELLP syndrome, maternal, of pregnancy, Autosomal recessive;LCHAD deficiency, Autosomal recessive;Trifunctional protein deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.003	B	0.008	B	0.041	N	1.000	D	1.715	L	-2.6	D	-0.374	T	0.520	D	0.344	2.451	14.15	4.61	1.397	3.051	7.085	0.263	0.046598793739	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1193924531	2.052e-06	2.052e-06	0	4.125e-06	3.478e-05	5.5e-07	1.5e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	0.12148	T	0.355	0.17217	T	0.003	0.11197	B	0.008	0.13708	B	0.040784	0.24019	N	0.468118	0.760197	0.34029	D	1.52	0.38360	L	-2.6	0.89888	D	-0.43	0.14390	N	0.354	0.39558	-0.3742	0.72833	T	0.520	0.82053	D	10	0.19289654	0.35037	T	0.046599	0.62531	D	0.263	0.57612	0.295	0.25881	0.852815230955	0.85140	0.16224151458464095	0.16144	0.217603358621	0.24282	0.344881087542	0.17166	T	0.30221	0.67462	T	0.0364323	0.56575	T	-0.185444	0.56016	T	0.270102441310883	0.23752	T	0.70043	0.31009	T	0.13081864	0.30512	0.08357255	0.19160	0.13081864	0.30512	0.08357255	0.19160	-5.084	0.37738	T	.	.	0.071	0.05103	B	.;.;.	.;.;.	2.468601	0.31817	18.85	0.9815350982837151	0.38705	0.93484	0.58342	D	AEFBCI	0.597338	0.59116	D	-0.183351864296997	0.33827	1.923656	-0.0252861029009588	0.38576	2.274759	0.999999896889448	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.51	4.61	0.56724	3.094000	0.49919	2.381000	0.32486	0.549000	0.26987	1.000000	0.71638	0.998000	0.33993	0.914000	0.44937	0.1794:0.7339:0.0:0.0867	7.085	0.24428	688	0.59122	3-hydroxyacyl-CoA dehydrogenase, C-terminal;.;3-hydroxyacyl-CoA dehydrogenase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2048.98	153	chr2	26191330	.	C	T	2048.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.395;DP=856;ExcessHet=0.0000;FS=4.800;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.39;ReadPosRankSum=-4.910e-01;SOR=0.457	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1286	20	0	1	0
chr2	26310072	26310072	C	T	exonic	ADGRF3	.	nonsynonymous SNV	ADGRF3:NM_153835:exon10:c.G2515A:p.A839T	.	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.068	B	0.021	B	.	.	1.000	N	0.345	N	0.94	T	-1.034	T	0.035	T	0.033	0.578	7.122	-9.65	-1.612	-1.440	0.011	0.088	.	7.7e-05	0.00339457	0.0014	9.612e-05	0	0	0	0	0.0033	0.0101	0.0012484	193	154602	rs371242523	0.0006	0.0006	0.0003	0.0009	0.0102	0.0006	0.0006	0.0097	0.0095	0	0	0	0	0	0.0005	4.497e-06	0.0006	0.0102	0.0004	0.0004	0.0002	0.0006	0.0120	0.0003	0.0003	0.0095	0.0086	0	0	0	0	0	0	0.0034	0	0	0.0120	0.841	0.04081	T	1.0	0.01155	T	0.037	0.23728	B	0.021	0.19346	B	.	.	.	.	1	0.08975	N	.	.	.	0.94	0.43672	T	0.36	0.03700	N	0.181	0.19593	-1.0338	0.19236	T	0.035	0.15030	T	9	0.0046133995	0.00096	T	.	.	.	0.088	0.25558	.	.	0.0138822411134	0.00435	0.027274580353201145	0.02677	0.0795081424943	0.08942	0.233527630568	0.02239	T	0.001974	0.01384	T	-0.74447	0.00019	T	-0.832761	0.01214	T	0.0223484822840362	0.00948	T	0.451055	0.13467	T	0.018741146	0.00396	0.04370995	0.05498	0.018741146	0.00396	0.04370995	0.05497	-3.829	0.21238	T	.	.	0.062	0.01859	B	.;.;.	.;.;.	-1.013062	0.00753	0.023	0.619047088175113	0.06826	0.00090	0.00598	N	AEFDBI	0.021585	0.00978	N	-1.78058768847544	0.00594	0.02561184	-1.85622593753423	0.00595	0.02644838	0.999980165823878	0.51787	0.556989	0.30585	1	0.588015	0.36545	0	0.504386	0.09223	2	0.530356	0.10902	0	.	.	5.97	-9.65	0.00450	-1.000000	0.03804	-2.055000	0.04281	-1.682000	0.00784	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2905:0.2012:0.1973:0.311	0.011	0.00001	444	0.79803	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1190.98	39	chr2	26310072	.	C	T	1190.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.163;DP=1060;ExcessHet=0.0000;FS=3.359;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.68;ReadPosRankSum=0.108;SOR=1.054	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1800	20	0	1	0
chr2	26311434	26311434	G	A	exonic	ADGRF3	.	nonsynonymous SNV	ADGRF3:NM_153835:exon8:c.C1697T:p.P566L	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.987	D	0.721	P	.	.	1.000	N	1.955	M	1.44	T	-1.058	T	0.048	T	0.186	1.303	10.27	3.1	0.406	2.436	5.057	0.047	.	0.0085	0.0091853	0.0030	0.0255	0.0012	0.0084	0	8.996e-05	0	0.0002	0.0027749	429	154602	rs116030611	0.0012	0.0012	0.0013	0.0011	0.0238	0.0012	0.0012	0.0225	0.0219	0.0238	0.0011	0.0006	0.0188	0	0.0009	2.878e-05	0.0019	0.0003	0.0069	0.0069	0.0070	0.0067	0.0228	0.0065	0.0064	0.0216	0.0211	0.0228	0	0.0020	0	0.0104	0	0.0034	8.819e-05	0.0047	0.0004	0.001	0.78490	D	0.0	0.92824	D	0.931	0.51899	P	0.354	0.42942	B	.	.	.	.	0.999996	0.08975	N	.	.	.	1.42	0.33630	T	-4.65	0.79399	D	0.223	0.30800	-1.0575	0.12388	T	0.048	0.20553	T	9	0.0034181178	0.00060	T	.	.	.	0.047	0.12962	.	.	0.260249123532	0.25628	0.25063136750255655	0.24977	0.159394310032	0.17987	0.347096741199	0.17493	T	0.050549	0.28626	T	-0.552632	0.00281	T	-0.54834	0.17484	T	0.0364939232411237	0.03067	T	0.753825	0.37593	T	0.046690956	0.07857	0.091177024	0.21422	0.046690956	0.07857	0.091177024	0.21421	-4.648	0.34870	T	.	.	0.097	0.15609	B	.;.;.	.;.;.	1.677169	0.21378	15.17	0.98859131448592674	0.47442	0.28186	0.23485	N	AEFDBI	0.139256	0.26080	N	-0.354925686978815	0.27091	1.483652	-0.476672938328932	0.22798	1.240069	0.984583377244943	0.30742	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.85	3.1	0.34780	0.167000	0.16419	4.452000	0.43426	-0.106000	0.15538	0.000000	0.06391	1.000000	0.68203	0.002000	0.04165	0.154:0.0:0.5522:0.2938	5.057	0.13876	445	0.79730	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3045.98	40	chr2	26311434	.	G	A	3045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.54;DP=1079;ExcessHet=0.0000;FS=1.675;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.44;ReadPosRankSum=1.44;SOR=0.569	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1057	20	0	1	0
chr2	26444260	26444260	C	T	exonic	DRC1	.	nonsynonymous SNV	DRC1:NM_145038:exon9:c.C1067T:p.A356V,	Ciliary dyskinesia, primary, 21, Autosomal recessive	.	426	1075	19	2	0	23	0.0105844	.	.	392852	Primary_ciliary_dyskinesia_21|not_provided|Primary_ciliary_dyskinesia	MONDO:MONDO:0014123,MedGen:C3809087,OMIM:615294,Orphanet:244|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.28	T	0.193	B	0.098	B	0.775	N	0.999	N	1.62	L	2.31	T	-0.993	T	0.004	T	0.09	3.028	16.10	2.55	0.309	0.345	5.577	0.061	.	0.0038	0.033147	0.0154	0.0111	0.0020	0.0636	0	0.0002	0.0077	0.0703	0.013952	2157	154602	rs78892546	0.0060	0.0060	0.0044	0.0077	0.0658	0.0059	0.0059	0.0644	0.0638	0.0120	0.0021	0.0005	0.0481	0	0.0016	8.723e-05	0.0101	0.0658	0.0083	0.0084	0.0070	0.0097	0.0778	0.0080	0.0078	0.0713	0.0688	0.0119	0	0.0020	0.0014	0.0672	0	0.0034	8.819e-05	0.0052	0.0778	0.185	0.21550	T	0.216	0.26226	T	0.193	0.29470	B	0.098	0.30479	B	0.775021	0.09517	N	0.904574	0.999077	0.21650	N	2.155	0.60227	M	2.31	0.16794	T	-2.15	0.48687	N	0.079	0.05414	-0.9925	0.31959	T	0.004	0.01159	T	10	0.0024882853	0.00037	T	.	.	.	0.061	0.17616	.	.	.	.	0.07048991804664596	0.06985	0.124715359228	0.14047	0.304213285446	0.11032	T	0.031243	0.21951	T	-0.676705	0.00050	T	-0.684803	0.06695	T	0.00660154953533092	0.00074	T	0.748825	0.36981	T	0.08217603	0.18918	0.11135863	0.26861	0.08217603	0.18917	0.11135863	0.26861	-4.021	0.24117	T	.	.	0.097	0.15921	B	.	.	1.677739	0.21385	15.18	0.99379588786453565	0.61803	0.11043	0.16369	N	AEFDBI	0.061735	0.11823	N	-0.516585596328434	0.21544	1.144097	-0.501788484637214	0.22104	1.198981	0.0222471026244364	0.13415	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.39	2.55	0.29757	0.530000	0.22742	0.179000	0.15609	0.599000	0.40250	0.173000	0.23973	0.001000	0.17328	0.998000	0.85391	0.152:0.638:0.1313:0.0787	5.577	0.16511	418	0.81602	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1246.98	33	chr2	26444260	.	C	T	1246.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.310e+00;DP=822;ExcessHet=0.0000;FS=2.408;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.84;ReadPosRankSum=-1.990e-01;SOR=0.493	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1174	20	0	1	0
chr2	26450071	26450071	G	A	exonic	DRC1	.	nonsynonymous SNV	DRC1:NM_145038:exon12:c.G1585A:p.D529N,	Ciliary dyskinesia, primary, 21, Autosomal recessive	.	404	1115	3	0	0	3	0.00134348	.	.	1401341	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.979	D	0.818	P	0.024	N	0.997	D	2.75	M	2.06	T	-0.849	T	0.142	T	0.229	4.589	25.0	5.48	2.569	4.495	16.260	0.277	0.0179915570485	.	0.000199681	0.0001	0	0	0	0	0	0	0.0010	0.0001229	19	154602	rs201581530	8.213e-05	8.209e-05	3.405e-05	0.0001	0.0013	7.005e-05	6.556e-05	0.0011	0.0010	0	0	0	0	0	0	3.598e-06	9.937e-05	0.0013	3.283e-05	3.281e-05	0	6.715e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.022	0.48642	D	0.149	0.32568	T	0.979	0.59044	D	0.818	0.58969	P	0.023532	0.26426	N	0.423148	0.997006	0.43563	D	3.35	0.91085	M	2.06	0.20523	T	-4.04	0.74427	D	0.743	0.74280	-0.8492	0.52024	T	0.142	0.46367	T	10	0.7673018	0.76804	D	0.017992	0.39899	T	0.277	0.59375	0.846	0.94965	0.58934274002	0.58610	0.6412930582721599	0.64064	0.351789939051	0.37014	0.522833347321	0.42025	T	0.144957	0.48184	T	-0.427777	0.01529	T	-0.44644	0.28090	T	0.952072501182556	0.63707	D	0.856214	0.54490	D	0.28250384	0.51287	0.3215141	0.58099	0.29711315	0.52644	0.36110395	0.61540	-7.027	0.54231	T	.	.	0.400	0.59595	A	.	.	4.829767	0.78746	27.0	0.999277552270738	0.99163	0.95364	0.64432	D	AEFDBI	0.612012	0.60024	D	0.714871369216017	0.80608	7.331878	0.683959181540347	0.81162	7.462464	0.999999452720547	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.48	5.48	0.80675	4.684000	0.61374	11.330000	0.92539	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.827000	0.38976	0.0:0.0:1.0:0.0	16.260	0.82360	417	0.81662	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	761.98	33	chr2	26450071	.	G	A	761.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.813e+00;DP=771;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.52;ReadPosRankSum=-1.989e+00;SOR=0.665	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1184	20	0	1	0
chr2	27033106	27033106	G	A	exonic	TMEM214	.	nonsynonymous SNV	TMEM214:NM_001083590:exon1:c.G91A:p.G31S	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.419	B	0.244	B	0.000	D	0.669	N	0.69	N	-2.11	D	-0.323	T	0.415	T	0.386	1.640	11.44	4.3	2.235	3.032	12.141	0.289	.	0.0006	0.000998403	0.0025	0.0103	0	0	0	0	0	0	0.0001617	25	154602	rs368291134	0.0002	0.0002	0.0002	0.0002	0.0074	0.0002	0.0002	0.0065	0.0062	0.0074	0.0005	0	0	0	0.0007	3.261e-06	0.0006	0	0.0023	0.0023	0.0023	0.0022	0.0081	0.0021	0.0020	0.0074	0.0071	0.0081	0	0.0006	0	0	0	0	0	0.0009	0	0.226	0.19430	T	0.201	0.27767	T	0.084	0.35307	B	0.042	0.38795	B	0.000064	0.52346	D	0.072942	0.66851	0.33119	D	1.01	0.25309	L	-2.11	0.86216	D	0.04	0.06868	N	0.175	0.18784	-0.3234	0.74327	T	0.415	0.76198	T	10	0.0062464774	0.00141	T	.	.	.	0.289	0.60808	.	.	0.620904768778	0.61782	0.16957041781291018	0.16877	0.505237964699	0.48774	0.639909625053	0.58551	T	0.00705	0.06470	T	-0.282592	0.10395	T	-0.17301	0.57168	T	0.167114706523352	0.18381	T	0.464953	0.13579	T	0.104742646	0.24764	0.12910411	0.31049	0.104742646	0.24763	0.12910411	0.31048	-4.92	0.35959	T	.	.	0.091	0.24833	B	.;.	.;.	2.193799	0.27977	17.64	0.93832342953826964	0.23819	0.28330	0.23524	N	ALL	0.166841	0.29346	N	-0.33642582825177	0.27774	1.526552	-0.222975146121646	0.30714	1.731762	0.99999999999993	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.3	4.3	0.50540	3.314000	0.51653	3.008000	0.35949	0.573000	0.29008	0.999000	0.42656	0.999000	0.35428	0.014000	0.10232	0.0:0.0:1.0:0.0	12.141	0.53304	444	0.79803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	544.98	35	chr2	27033106	.	G	A	544.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=848;ExcessHet=0.0000;FS=5.288;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.34;ReadPosRankSum=-1.671e+00;SOR=0.204	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,109,1351	20	0	1	0
chr2	27035982	27035982	A	C	exonic	TMEM214	.	nonsynonymous SNV	TMEM214:NM_001083590:exon4:c.A515C:p.H172P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.999	D	0.989	D	0.000	D	1.000	D	2.135	M	0.66	T	-0.596	T	0.286	T	0.964	4.463	23.8	5.67	2.163	8.864	15.585	0.635	0.0419105324386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.72154	D	0.0	0.92824	D	0.997	0.77913	D	0.98	0.78396	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.77	0.80896	M	0.66	0.52416	T	-3.79	0.71639	D	0.928	0.93252	-0.5955	0.65000	T	0.286	0.65802	T	10	0.90457904	0.89822	D	0.041911	0.60185	D	0.635	0.86027	0.702	0.83869	0.719281843152	0.71680	0.8655625069595365	0.86521	0.682033757252	0.60087	0.664357304573	0.62032	T	0.158444	0.50147	T	0.308341	0.83617	D	0.205134	0.83404	D	0.988833168034224	0.79119	D	0.90211	0.66975	D	0.7591854	0.81405	0.76905036	0.86362	0.7591854	0.81406	0.76905036	0.86363	-5.778	0.48141	T	.	.	0.460	0.66424	A	.;.	.;.	4.790330	0.77735	26.8	0.98835711349387345	0.47035	0.99178	0.92379	D	AEFBCI	0.976457	0.99674	D	0.733338177786756	0.81819	7.612076	0.714480067190238	0.83479	8.032118	0.999999999997233	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.67	5.67	0.87673	8.366000	0.90006	11.215000	0.89546	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.945000	0.48827	1.0:0.0:0.0:0.0	15.585	0.76222	441	0.80015	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1514.98	34	chr2	27035982	.	A	C	1514.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.420e-01;DP=869;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=0.261;SOR=0.693	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,117,1497	20	0	1	0
chr2	27038174	27038174	C	T	exonic	TMEM214	.	nonsynonymous SNV	TMEM214:NM_001083590:exon9:c.C1046T:p.T349M	.	.	420	1092	10	0	0	10	0.00455789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.174	B	0.03	B	0.020	N	1.000	N	0.805	L	0.94	T	-1.060	T	0.057	T	0.357	0.560	7.029	0.353	0.038	0.431	5.234	0.013	0.00709342326713	8e-05	0.00119808	0.0008	0	0.0005	0	0	0.0003	0.0011	0.0042	0.0006921	107	154602	rs200292649	0.0005	0.0005	0.0003	0.0006	0.0045	0.0004	0.0004	0.0041	0.0040	0.0002	0.0004	0.0013	2.519e-05	0	0.0009	0.0002	0.0007	0.0045	0.0003	0.0003	0.0002	0.0004	0.0046	0.0002	0.0002	0.0031	0.0026	4.813e-05	0	0.0002	0.0020	0	0	0	0.0001	0.0009	0.0046	0.071	0.38407	T	0.066	0.44702	T	0.027	0.28827	B	0.005	0.21741	B	0.020386	0.27050	N	0.448069	1	0.08975	N	1.61	0.41143	L	0.94	0.43672	T	-1.73	0.47852	N	0.196	0.26837	-1.0601	0.11731	T	0.057	0.23866	T	10	0.006698042	0.00152	T	0.007093	0.18786	T	0.015	0.02232	.	.	0.0954503805726	0.09146	0.23371121419128238	0.23286	0.13630685124	0.15377	0.274575144053	0.06747	T	0.043338	0.26468	T	-0.488593	0.00661	T	-0.474614	0.25021	T	0.0128376919794793	0.00219	T	0.757724	0.39073	T	0.01777656	0.00302	0.049854476	0.07703	0.01777656	0.00301	0.049854476	0.07703	-4.375	0.29326	T	.	.	0.064	0.09481	B	.;.;.	.;.;.	1.706737	0.21738	15.33	0.95484442015611004	0.27051	0.38631	0.26032	N	AEFBCI	0.229928	0.35338	N	-0.972599545284103	0.09191	0.434032	-0.971446157798127	0.10429	0.5252466	0.999703094695499	0.41986	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.42	0.353	0.15294	0.477000	0.21906	-0.494000	0.08842	-0.805000	0.03119	0.223000	0.24568	0.000000	0.08366	0.020000	0.11549	0.0:0.4393:0.22:0.3407	5.234	0.14753	441	0.80015	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1143.98	41	chr2	27038174	.	C	T	1143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.97;DP=802;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.30;ReadPosRankSum=0.732;SOR=0.677	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr2	27040384	27040384	C	T	exonic	TMEM214	.	nonsynonymous SNV	TMEM214:NM_001083590:exon15:c.C1696T:p.R566C	.	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.983	D	0.491	P	0.275	N	1.000	N	0.69	N	0.89	T	-1.068	T	0.079	T	0.392	2.836	15.44	4.08	0.847	0.416	6.785	0.175	.	.	0.00199681	0.0015	0	8.639e-05	0	0	4.497e-05	0.0011	0.0110	0.0013066	202	154602	rs200131734	0.0007	0.0007	0.0004	0.0009	0.0103	0.0006	0.0006	0.0098	0.0096	2.987e-05	2.236e-05	0	2.519e-05	0	0.0005	3.507e-05	0.0007	0.0103	0.0004	0.0004	0.0002	0.0006	0.0120	0.0003	0.0003	0.0095	0.0086	0	0	0	0	0	0	0	2.939e-05	0	0.0120	0.126	0.33585	T	0.103	0.38305	T	0.002	0.60381	B	0.001	0.47360	B	0.275367	0.15047	N	0.696046	1	0.08975	N	1.1	0.28011	L	0.89	0.45636	T	-1.6	0.39314	N	0.118	0.13055	-1.0677	0.09926	T	0.079	0.31284	T	10	0.004383087	0.00089	T	.	.	.	0.175	0.44197	0.502	0.59460	0.195762928549	0.19159	0.10064077174199151	0.09995	0.177633600203	0.19989	0.197326987982	0.00383	T	0.023571	0.17967	T	-0.48477	0.00694	T	-0.45972	0.26629	T	0.0403031622488279	0.03745	T	0.377862	0.17685	T	0.04778574	0.08224	0.035694137	0.02870	0.04778574	0.08224	0.035694137	0.02869	-3.803	0.20969	T	.	.	0.062	0.03736	B	.;.;.	.;.;.	2.131516	0.27137	17.36	0.9954901303619399	0.71023	0.20466	0.21051	N	AEFDBCI	0.146460	0.26991	N	-0.718916181141905	0.15490	0.7811155	-0.744422756604693	0.15858	0.836185	0.999993985263133	0.74766	0.732398	0.92422	0	0.696144	0.67643	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.85	4.08	0.46880	0.414000	0.20885	1.097000	0.24034	-0.805000	0.03119	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7003:0.1443:0.1555	6.785	0.22856	441	0.80015	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1718.98	36	chr2	27040384	.	C	T	1718.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.48;DP=996;ExcessHet=0.0000;FS=3.558;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.99;ReadPosRankSum=0.00;SOR=0.968	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	20	0	1	0
chr2	27082373	27082373	A	G	exonic	EMILIN1	.	nonsynonymous SNV	EMILIN1:NM_007046:exon4:c.A802G:p.S268G,	.	.	415	1106	1	0	0	1	0.000451875	.	.	708202	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.4	T	0.0	B	0.0	B	0.073	N	1.000	N	-1.04	N	2.28	T	-0.986	T	0.011	T	0.126	-1.976	0.007	3.0	0.117	0.696	14.901	0.073	0.00611226746129	0.0031	0.000998403	0.0008	0.0097	0.0004	0	0	0	0	6.303e-05	0.0006662	103	154602	rs35464488	0.0002	0.0002	0.0003	0.0002	0.0077	0.0002	0.0002	0.0069	0.0066	0.0077	0.0004	0	0	0	0.0007	1.8e-05	0.0007	3.482e-05	0.0023	0.0023	0.0024	0.0022	0.0082	0.0021	0.0020	0.0074	0.0072	0.0082	0	0.0005	0	0	0	0	0	0.0009	0	0.498	0.07797	T	0.47	0.12246	T	0.0	0.02946	B	0.0	0.01387	B	0.073209	0.21361	N	0.439557	1	0.08975	N	-1.665	0.00379	N	2.28	0.17271	T	0.4	0.03463	N	0.109	0.09490	-0.9861	0.33566	T	0.011	0.04321	T	10	0.0031388998	0.00052	T	0.006112	0.15993	T	0.073	0.21317	.	.	0.115124310173	0.11017	0.12779586082915453	0.12705	0.166566091736	0.18790	0.405493468046	0.25833	T	0.088334	0.38135	T	-0.67478	0.00051	T	-0.73622	0.04051	T	0.0118180645277552	0.00183	T	0.288971	0.05229	T	0.037558693	0.04837	0.06208652	0.12093	0.037558693	0.04837	0.06208652	0.12093	-2.993	0.10106	T	.	.	0.053	0.00274	B	.	.	-0.533069	0.01763	0.134	0.16111763171338561	0.00419	0.00359	0.01841	N	AEFDBCIJ	0.027165	0.02172	N	-1.87810490161221	0.00381	0.01636144	-1.75691419973839	0.00908	0.04058833	0.999790895331739	0.43153	0.554377	0.28877	0	0.550933	0.16991	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.81	3.0	0.33773	0.515000	0.22507	3.553000	0.39056	-3.065000	0.00129	0.017000	0.19353	1.000000	0.68203	0.000000	0.00833	0.0871:0.0:0.9129:0.0	14.901	0.70321	406	0.82375	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1638.98	35	chr2	27082373	.	A	G	1638.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.081e+00;DP=786;ExcessHet=0.0000;FS=5.502;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.62;ReadPosRankSum=-5.220e-01;SOR=1.035	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1211	20	0	1	0
chr2	27101354	27101354	G	T	exonic	CGREF1	.	nonsynonymous SNV	CGREF1:NM_001166239:exon6:c.C877A:p.P293T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.906	P	0.444	B	0.060	N	0.675	N	.	.	-1.32	T	-0.497	T	0.413	T	0.353	2.428	14.08	3.8	1.279	2.227	13.452	0.254	0.202772999968	0.0003	.	5.847e-05	0.0006	0	0	0	0	0	6.537e-05	5.17e-05	8	154602	rs140516990	4.316e-05	4.309e-05	4.224e-05	4.408e-05	0.0013	3.447e-05	3.133e-05	0.0010	0.0009	0.0013	0.0001	0	0	0	0.0007	0	0.0001	1.163e-05	0.0003	0.0003	0.0002	0.0003	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	0.0003	0	0	0	0	0	0	0	0.226	0.36310	T	0.059	0.65728	T	0.906	0.49993	P	0.444	0.45865	B	0.059762	0.22298	N	0.463174	1	0.30331	N	2.015	0.55033	M	-1.41	0.80560	T	-1.49	0.40082	N	0.252	0.36043	-0.4966	0.68772	T	0.413	0.76102	T	9	0.08697742	0.14838	T	0.202773	0.86839	D	0.254	0.56428	.	.	0.81447998794	0.81273	0.20691205126085802	0.20607	0.607646730717	0.55570	0.348205447197	0.17657	T	0.015768	0.13159	T	-0.290531	0.09583	T	-0.230638	0.51711	T	0.0344774090373161	0.02718	T	0.751525	0.37371	T	0.0965073	0.22732	0.11638673	0.28097	0.0965073	0.22732	0.11638673	0.28096	.	.	.	.	.	0.087	0.14842	B	.;.;.;.;.	.;.;.;.;.	2.477089	0.31934	18.89	0.95389216444927027	0.26825	0.22815	0.21872	N	AEFBCI	0.128181	0.24585	N	-0.201681386998756	0.33064	1.871756	-0.322946112072468	0.27359	1.517568	0.999851775644531	0.44174	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.69	3.8	0.42887	2.170000	0.42071	5.467000	0.48687	0.676000	0.76740	0.031000	0.20493	0.997000	0.33255	0.365000	0.25999	0.0:0.1587:0.8412:0.0	13.452	0.60628	362	0.84826	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2222.98	33	chr2	27101354	.	G	T	2222.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.836e+00;DP=1053;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=0.387;SOR=0.685	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	20	0	1	0
chr2	27137875	27137875	A	G	exonic	PRR30	.	nonsynonymous SNV	PRR30:NM_178553:exon3:c.T455C:p.L152P,	.	.	0	225	1	0	0	1	0.00221729	.	.	2682196	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.004	B	0.011	B	0.718	N	1.000	N	0.805	L	1.22	T	-0.997	T	0.056	T	0.197	1.081	9.412	0.823	-0.044	0.302	1.081	0.024	0.00762609016641	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1280021877	9.679e-06	9.577e-06	9.603e-06	9.757e-06	0.0003	5.62e-06	4.39e-06	0.0001	0.0001	0.0003	2.275e-05	0	0	0	0	2.719e-06	1.675e-05	0	6.579e-06	6.57e-06	1.286e-05	0	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	0.07	0.35349	T	0.227	0.25362	T	0.004	0.12183	B	0.011	0.15521	B	0.717782	0.06296	N	1.249320	0.999997	0.08975	N	1.245	0.31408	L	1.22	0.37052	T	-2.38	0.52451	N	0.068	0.04072	-0.9967	0.30838	T	0.056	0.23527	T	10	0.06332821	0.08234	T	0.007626	0.20246	T	0.024	0.04979	0.244	0.17830	0.0954503805726	0.09146	0.060216753879086954	0.05961	0.281492663886	0.30622	.	.	.	0.033882	0.23096	T	-0.299082	0.08747	T	-0.584522	0.14143	T	0.0359847614290344	0.02978	T	0.226477	0.02994	T	0.12453024	0.29216	0.18806632	0.42075	0.12453024	0.29215	0.18806632	0.42074	-2.706	0.07354	T	.	.	0.081	0.08417	B	.	.	0.428602	0.07991	4.706	0.79291265701164115	0.12675	0.03108	0.08043	N	AEFBI	0.112765	0.22277	N	-0.970475661601901	0.09238	0.4364135	-1.00588526662056	0.09655	0.481634	0.104100891220944	0.16465	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.75	0.823	0.17950	0.012000	0.13184	0.609000	0.20011	0.655000	0.54021	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.5123:0.1899:0.1146:0.1832	1.081	0.01542	317	0.87119	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1506.98	42	chr2	27137875	.	A	G	1506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.880e-01;DP=834;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.22;ReadPosRankSum=-1.454e+00;SOR=0.736	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1163	20	0	1	0
chr2	27212400	27212400	C	T	exonic	ATRAID	.	nonsynonymous SNV	ATRAID:NM_001170795:exon1:c.C32T:p.T11I,	.	.	413	1067	42	0	0	42	0.0193015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.0	B	0.257	N	1.000	N	0	N	0.91	T	-1.063	T	0.038	T	0.065	1.582	11.25	-8.91	-1.630	-2.725	2.698	0.006	0.00296217740148	0.0003	0.000798722	0.0034	0.0005	0.0026	0.0014	0	0.0033	0.0059	0.0044	0.0010284	159	154602	rs201498828	0.0012	0.0012	0.0010	0.0013	0.0286	0.0011	0.0011	0.0250	0.0237	0.0004	0.0015	0.0018	2.789e-05	0.0002	0.0286	0.0008	0.0020	0.0046	0.0009	0.0009	0.0009	0.0010	0.0039	0.0008	0.0008	0.0026	0.0021	0.0003	0	0.0012	0.0009	0	0	0.0306	0.0011	0.0024	0.0039	0.296	0.14694	T	0.29	0.22359	T	0.0	0.02946	B	0.0	0.01387	B	0.257061	0.03684	N	1.463700	1	0.20048	N	0	0.06538	N	0.91	0.44856	T	-1.02	0.26843	N	0.014	0.02179	-1.0632	0.10974	T	0.038	0.16246	T	10	0.0035203993	0.00063	T	0.002962	0.06309	T	0.006	0.00375	.	.	0.0716867268079	0.06686	0.2802022403104454	0.27933	0.0688238525608	0.07705	0.495511114597	0.38203	T	0.001769	0.01195	T	-0.681762	0.00047	T	-0.752088	0.03405	T	0.0480647877707699	0.05155	T	0.29917	0.05580	T	0.02529811	0.01453	0.037971	0.03565	0.02529811	0.01453	0.037971	0.03565	-4.968	0.36568	T	.	.	0.090	0.12418	B	.;.;.	.;.;.	-0.876831	0.00965	0.038	0.78579484111606301	0.12362	0.00580	0.02616	N	ALL	0.280443	0.39426	N	-1.96612234714031	0.00250	0.01071068	-2.04380727462077	0.00247	0.01088824	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.45	-8.91	0.00669	-2.451000	0.01083	-0.738000	0.07632	-1.278000	0.01271	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.149:0.392:0.1422:0.3168	2.698	0.04823	252	0.90114	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	581.98	38	chr2	27212400	.	C	T	581.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.053;DP=803;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=0.581;SOR=0.610	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr2	27216935	27216935	C	T	exonic	ATRAID	.	nonsynonymous SNV	ATRAID:NM_001170795:exon7:c.C677T:p.A226V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.376	B	0.084	B	0.001	N	0.594	N	0.975	L	0.82	T	-1.025	T	0.067	T	0.533	1.311	10.29	4.59	2.620	1.780	6.366	0.148	0.00597793430269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	0.09264	T	0.363	0.16815	T	0.376	0.34240	B	0.084	0.29270	B	0.001049	0.40475	N	0.238919	0.805152	0.30998	N	1.04	0.26193	L	0.69	0.51714	T	-0.45	0.14782	N	0.176	0.18920	-1.0254	0.21952	T	0.067	0.27606	T	10	0.075443715	0.11662	T	0.005978	0.15608	T	0.148	0.39182	0.159	0.06287	0.344945010812	0.34105	0.5708235902116919	0.57010	0.160772206657	0.18148	0.505143582821	0.39544	T	0.008347	0.07671	T	-0.0644003	0.42216	T	-0.330283	0.41438	T	0.75575864315033	0.43609	D	0.762724	0.43036	T	0.068329506	0.14877	0.100089245	0.23919	0.068329506	0.14877	0.100089245	0.23918	-4.544	0.33598	T	.	.	0.158	0.34949	B	.;.;.;.	.;.;.;.	3.130068	0.42292	21.5	0.9016651794435524	0.19443	0.44289	0.27285	N	AEFDBHCI	0.429384	0.49252	N	-0.136288082849336	0.35819	2.062378	0.0469347926981406	0.41925	2.526952	0.999993159270341	0.74766	0.733237	0.96898	0	0.600757	0.49542	0	0.672317	0.60874	0	0.657601	0.63696	0	.	.	5.58	4.59	0.56297	1.815000	0.38620	3.953000	0.40689	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.8473:0.0:0.1527	6.366	0.20660	252	0.90114	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	846.98	78	chr2	27216935	.	C	T	846.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.34;DP=783;ExcessHet=0.0000;FS=10.221;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=1.67;SOR=1.876	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr2	27242740	27242740	G	C	exonic	CAD	.	nonsynonymous SNV	CAD:NM_001306079:exon40:c.G6154C:p.V2052L	Epileptic encephalopathy, early infantile, 50, Autosomal recessive	.	426	1094	1	1	0	3	0.00136924	.	.	364149	not_provided|CAD-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.18	T	0.232	B	0.109	B	0.000	D	1.000	D	1.43	L	-5.23	D	0.438	D	0.776	D	0.377	1.593	11.28	4.32	2.429	6.782	6.004	0.544	.	0.0061	0.00339457	0.0053	0.0022	0.0019	0	0.0070	0.0076	0.0055	0.0026	0.0051164	791	154602	rs61737365	0.0093	0.0093	0.0095	0.0090	0.0111	0.0091	0.0091	0.0109	0.0109	0.0014	0.0023	0.0015	2.519e-05	0.0065	0.0002	0.0111	0.0072	0.0027	0.0056	0.0056	0.0061	0.0050	0.0091	0.0052	0.0051	0.0085	0.0082	0.0019	0	0.0028	0.0020	0	0.0079	0	0.0091	0.0038	0.0012	0.197	0.21224	T	0.193	0.28210	T	0.232	0.30664	B	0.109	0.31370	B	0.000003	0.62929	D	0.058735	0.99987	0.50225	D	1.31	0.32734	L	-5.23	0.98892	D	-1.69	0.40274	N	0.481	0.51583	0.438	0.89658	D	0.776	0.92377	D	10	0.010230601	0.00228	T	.	.	.	0.544	0.81018	0.715	0.85051	0.837892935197	0.83635	0.6131138173519606	0.61243	0.531617189357	0.50652	0.623715698719	0.56254	T	0.445038	0.79423	T	-0.155682	0.27427	T	0.00957024	0.70954	D	0.0227811320075894	0.00998	T	0.857514	0.54691	D	0.16658469	0.37003	0.09411074	0.22261	0.14909628	0.34007	0.11028023	0.26589	-5.45	0.41397	T	.	.	0.301	0.53080	B	.;.	.;.	3.305329	0.45390	22.1	0.85491413260260352	0.15926	0.90725	0.52143	D	AEFDGBHCI	0.741489	0.68540	D	-0.191404379800251	0.33491	1.900675	-0.137372751538191	0.33899	1.943982	0.999999999596099	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.21	4.32	0.50899	6.822000	0.75068	8.615000	0.77786	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.023000	0.12082	0.248:0.0:0.752:0.0	6.004	0.18765	251	0.90153	Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain;Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1736.98	35	chr2	27242740	.	G	C	1736.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.917;DP=881;ExcessHet=0.0000;FS=6.362;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=1.24;SOR=1.195	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1277	20	0	1	0
chr2	27380216	27380216	C	T	exonic	ZNF513	.	nonsynonymous SNV	ZNF513:NM_144631:exon2:c.G88A:p.G30R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.995	D	0.84	P	0.000	D	1.000	D	0.695	N	2.84	T	-1.052	T	0.033	T	0.703	4.064	20.9	3.84	2.149	2.887	11.455	0.105	0.0204211750371	.	.	1.648e-05	9.625e-05	0	0	0	0	0	6.057e-05	1.29e-05	2	154602	rs771563158	6.84e-06	6.84e-06	8.167e-06	5.5e-06	8.961e-05	3.46e-06	2.52e-06	2.374e-05	1.258e-05	8.961e-05	0	0	2.519e-05	0	0	4.496e-06	0	1.159e-05	6.578e-06	6.568e-06	0	1.347e-05	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	0.039	0.42487	D	0.054	0.47097	T	0.995	0.67487	D	0.84	0.60170	P	0.000470	0.44119	D	0.000000	0.571075	0.81001	D	1.59	0.40313	L	2.84	0.10674	T	-1.1	0.28497	N	0.452	0.48963	-1.0518	0.13899	T	0.033	0.14073	T	10	0.28560206	0.46142	T	0.020421	0.43011	T	0.105	0.29889	0.303	0.27164	0.267718591433	0.26370	0.16021618100405327	0.15942	1.00570345527	0.74575	0.721856951714	0.70316	T	0.017716	0.14403	T	-0.186503	0.22773	T	-0.269007	0.47919	T	0.738727867603302	0.42669	D	0.829117	0.49388	T	0.15330294	0.34757	0.3077177	0.56792	0.15330294	0.34757	0.3077177	0.56792	-4.901	0.35746	T	.	.	0.266	0.50016	B	.	.	3.813003	0.55007	23.6	0.99918327591324452	0.98586	0.54917	0.29734	D	AEFDGBHCI	0.455864	0.50797	N	0.116510803594638	0.47233	2.951904	0.0887865298324132	0.43983	2.688947	0.999999998706648	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.84	3.84	0.43422	2.083000	0.41239	7.566000	0.60594	0.504000	0.22967	0.732000	0.28943	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	11.455	0.49421	338	0.86082	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1606.98	33	chr2	27380216	.	C	T	1606.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.26;DP=811;ExcessHet=0.0000;FS=2.400;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=2.26;SOR=0.928	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1620	20	0	1	0
chr2	27381614	27381616	CTT	-	exonic	PPM1G	.	nonframeshift deletion	PPM1G:NM_177983:exon10:c.1624_1626del:p.K542del,	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	.	0.0005	9.61e-05	0.0007	0.0005	0	0.0006	0.0022	0.0004	0.0004528	70	154602	rs756332441	0.0007	0.0007	0.0007	0.0007	0.0023	0.0006	0.0006	0.0013	0.0011	0.0004	0.0002	0.0035	0.0004	0	0.0023	0.0007	0.0010	0.0007	0.0006	0.0006	0.0007	0.0005	0.0010	0.0005	0.0004	0.0006	0.0006	9.633e-05	0	0.0006	0.0035	0.0006	9.423e-05	0	0.0008	0.0009	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1661.94	86	chr2	27381613	.	CCTT	C	1661.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.950e-01;DP=775;ExcessHet=0.0000;FS=1.798;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.32;ReadPosRankSum=-7.780e-01;SOR=1.007	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1255	20	0	1	0
chr2	27443518	27443518	G	A	exonic	KRTCAP3	.	nonsynonymous SNV	KRTCAP3:NM_001168364:exon5:c.G601A:p.G201R	.	.	424	1078	19	1	0	21	0.0096463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.904	P	0.267	B	0.039	N	0.937	D	1.04	L	1.04	T	-1.021	T	0.078	T	0.541	2.949	15.83	5.83	2.762	2.968	17.600	0.107	.	0.0002	0.00319489	0.0023	0	0.0003	0.0001	0	0.0002	0.0022	0.0158	0.0019599	303	154602	rs140860919	0.0010	0.0010	0.0006	0.0015	0.0156	0.0010	0.0010	0.0149	0.0146	5.974e-05	2.236e-05	0	5.038e-05	0	0.0014	8.813e-05	0.0008	0.0156	0.0006	0.0006	0.0003	0.0009	0.0168	0.0005	0.0005	0.0139	0.0128	2.407e-05	0	0.0001	0	0	0	0	0.0001	0.0005	0.0168	0.561	0.53900	T	0.823	0.45530	T	0.904	0.49848	P	0.267	0.39770	B	0.039479	0.24167	N	0.479309	0.869188	0.37177	D	0.345	0.11182	N	1.04	0.40218	T	0.0	0.90608	N	0.303	0.34228	-1.0207	0.23486	T	0.078	0.31133	T	10	0.0041401386	0.00082	T	.	.	.	0.107	0.30369	0.354	0.35408	0.441636318388	0.43783	0.4181076378756659	0.41726	0.171605658539	0.19324	0.461895823479	0.33571	T	0.007087	0.40791	T	-0.389414	0.02714	T	-0.319169	0.42666	T	0.0249702177853107	0.01269	T	0.705929	0.32487	T	0.13634725	0.31611	0.08662678	0.20084	0.13634725	0.31611	0.08662678	0.20083	-3.204	0.12530	T	.	.	0.089	0.23848	B	.;.;.;.	.;.;.;.	3.575398	0.50375	22.9	0.99734813014918078	0.83047	0.94046	0.59950	D	AEFDBCI	0.647266	0.62250	D	0.16364946476459	0.49460	3.146148	0.27384074030667	0.54015	3.568054	0.999999893844659	0.74766	0.72623	0.87236	0	0.694456	0.67091	0	0.594344	0.31042	0	0.636168	0.56350	0	.	.	5.83	5.83	0.93059	3.570000	0.53578	5.863000	0.50453	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.878000	0.41950	0.0:0.0:1.0:0.0	17.600	0.87923	63	0.97314	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3267.11	37	chr2	27443518	.	G	A	3267.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.91;DP=930;ExcessHet=0.1072;FS=0.589;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.06;ReadPosRankSum=0.963;SOR=0.754	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1377	19	0	2	0
chr2	27457689	27457689	C	T	exonic	IFT172	.	nonsynonymous SNV	IFT172:NM_015662:exon29:c.G3178A:p.A1060T,	Retinitis pigmentosa 71, Autosomal recessive;Short-rib thoracic dysplasia 10 with or without polydactyly, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	988622	Short-rib_thoracic_dysplasia_10_with_or_without_polydactyly|Bardet-Biedl_syndrome_20|Retinitis_pigmentosa_71|IFT172-related_disorder|Inborn_genetic_diseases	MONDO:MONDO:0014284,MedGen:C3810175,OMIM:615630,Orphanet:474|MONDO:MONDO:0023670,MedGen:C4310707,OMIM:619471|MONDO:MONDO:0014618,MedGen:C4225342,OMIM:616394,Orphanet:791|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.34	T	0.035	B	0.081	B	0.000	D	1.000	D	2.11	M	1.96	T	-1.105	T	0.074	T	0.829	3.914	19.91	6.08	2.890	4.525	19.229	0.177	0.0118874354197	.	0.000399361	0.0001	0	0	0	0	1.499e-05	0.0011	0.0008	0.0001164	18	154602	rs560379580	4.652e-05	4.652e-05	2.995e-05	6.325e-05	0.0006	3.727e-05	3.411e-05	0.0005	0.0004	0	0.0002	0	0	0	0.0002	6.295e-06	1.656e-05	0.0006	3.939e-05	3.937e-05	1.285e-05	6.714e-05	0.0010	1.714e-05	1.129e-05	0.0004	0.0003	0	0	6.538e-05	0	0	0	0	0	0	0.0010	0.075	0.34444	T	0.16	0.31427	T	0.035	0.20614	B	0.081	0.28987	B	0.000000	0.84330	D	0.046816	1	0.81001	D	2.15	0.60148	M	1.96	0.22270	T	-2.19	0.49352	N	0.224	0.25130	-1.1047	0.03567	T	0.074	0.29739	T	10	0.04322335	0.03149	T	0.011887	0.29959	T	0.177	0.44549	0.463	0.53242	0.310458034454	0.30648	0.21700164753902113	0.21616	0.184026296614	0.20700	0.531820952892	0.43291	T	0.28691	0.65971	T	-0.168196	0.25508	T	-0.0832002	0.64669	T	0.13990878311189	0.16268	T	0.889011	0.61998	D	0.22398822	0.45031	0.28936294	0.54956	0.22398822	0.45031	0.28936294	0.54956	-8.755	0.66106	D	0.2991456569440144	0.39638	0.112	0.22024	B	.	.	3.139286	0.42451	21.5	0.99828561708152386	0.91026	0.98384	0.82228	D	AEFGBI	0.552963	0.56441	D	0.184379462556949	0.50448	3.234812	0.358825569360663	0.59039	4.078736	0.999997702142414	0.74766	0.732398	0.92422	0	0.670034	0.63936	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.08	6.08	0.98982	4.597000	0.60770	4.842000	0.45294	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.229	0.93814	61	0.97388	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3042.98	35	chr2	27457689	.	C	T	3042.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.148;DP=981;ExcessHet=0.0000;FS=1.472;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=-1.660e+00;SOR=0.724	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1388	20	0	1	0
chr2	27470935	27470935	G	C	exonic	IFT172	.	nonsynonymous SNV	IFT172:NM_015662:exon16:c.C1685G:p.T562S,	Retinitis pigmentosa 71, Autosomal recessive;Short-rib thoracic dysplasia 10 with or without polydactyly, Autosomal recessive	.	436	1022	63	1	0	65	0.0308203	.	.	451000	not_provided|Retinitis_pigmentosa_71|Short-rib_thoracic_dysplasia_10_with_or_without_polydactyly|not_specified	MedGen:C3661900|MONDO:MONDO:0014618,MedGen:C4225342,OMIM:616394,Orphanet:791|MONDO:MONDO:0014284,MedGen:C3810175,OMIM:615630,Orphanet:474|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.66	T	0.002	B	0.003	B	0.000	N	1.000	D	-0.345	N	3.5	T	-0.883	T	0.007	T	0.005	1.867	12.20	5.36	2.503	9.024	17.646	0.159	.	0.0052	0.00279553	0.0072	0.0017	0.0043	0.0001	0.0036	0.0096	0.0139	0.0081	0.0065782	1017	154602	rs61743977	0.0062	0.0062	0.0060	0.0064	0.0378	0.0061	0.0060	0.0336	0.0321	0.0010	0.0046	0.0219	2.533e-05	0.0032	0.0378	0.0060	0.0079	0.0082	0.0049	0.0049	0.0049	0.0049	0.0070	0.0046	0.0045	0.0065	0.0063	0.0010	0	0.0038	0.0196	0	0.0035	0.0612	0.0070	0.0066	0.0064	0.388	0.10909	T	0.14	0.33554	T	0.002	0.09854	B	0.003	0.08700	B	0.000005	0.62929	N	0.108408	0.819621	0.34757	D	0.55	0.14455	N	3.5	0.05014	T	0.26	0.04380	N	0.093	0.07262	-0.8830	0.49521	T	0.007	0.02478	T	10	0.0037594736	0.00070	T	.	.	.	0.159	0.41286	0.406	0.43902	0.112648838833	0.10856	0.1681209475804747	0.16732	0.158194110733	0.17867	0.332134783268	0.15256	T	0.105979	0.41692	T	-0.648558	0.00074	T	-0.699117	0.05874	T	0.0478384942027357	0.05115	T	0.679032	0.28770	T	0.07482146	0.16818	0.11939129	0.28818	0.07310221	0.16309	0.13313392	0.31930	-0.821	0.00821	T	0.05207728016525325	0.00985	0.073	0.04764	B	.	.	2.911773	0.38627	20.8	0.91152418099870303	0.20406	0.99456	0.96256	D	AEFBI	0.880369	0.80696	D	-0.189368090475749	0.33575	1.906461	0.0649026428597816	0.42799	2.595053	0.99999999862882	0.74766	0.706548	0.73137	0	0.670034	0.63936	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.36	5.36	0.76624	9.142000	0.93794	9.823000	0.81815	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.0:0.0:1.0:0.0	17.646	0.88052	72	0.96948	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1657.98	37	chr2	27470935	.	G	C	1657.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.402e+00;DP=816;ExcessHet=0.0000;FS=0.662;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=0.681;SOR=0.765	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1277	20	0	1	0
chr2	27522550	27522550	G	A	exonic	GCKR	.	nonsynonymous SNV	GCKR:NM_001486:exon18:c.G1663A:p.A555T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.013	B	0.027	N	0.707	D	0.755	N	2.21	T	-1.018	T	0.033	T	0.222	0.772	8.079	3.01	0.927	0.344	8.824	0.030	0.00239308382869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.668	0.04588	T	0.797	0.04104	T	.	.	.	.	.	.	0.027387	0.25764	N	0.358408	0.70662	0.33475	D	.	.	.	2.21	0.18414	T	-0.74	0.20791	N	0.175	0.18784	-1.0182	0.24301	T	0.033	0.14029	T	10	0.10603249	0.19627	T	0.002393	0.04673	T	0.030	0.07022	0.599	0.72984	0.260735089382	0.25697	0.20211057352970865	0.20128	0.0566683192148	0.06263	0.404895544052	0.25749	T	0.236296	0.60375	T	-0.271781	0.11560	T	-0.628171	0.10555	T	0.117052689194679	0.14138	T	0.692631	0.30204	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06250	B	.	.	1.663924	0.21216	15.10	0.88577561856456721	0.18087	0.15489	0.18937	N	AEFDGBHCI	0.293024	0.40375	N	-0.764328850180801	0.14246	0.7081355	-0.665650180619877	0.17822	0.9493672	0.999914621340413	0.45857	0.533608	0.22052	0	0.573888	0.26702	0	0.685742	0.62368	0	0.638833	0.57524	0	.	.	3.91	3.01	0.33872	0.358000	0.19952	3.196000	0.36727	0.676000	0.76740	0.084000	0.22438	0.996000	0.32793	0.994000	0.71098	0.0:0.0:0.7752:0.2248	8.824	0.34202	73	0.96914	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2212.98	34	chr2	27522550	.	G	A	2212.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.060e-01;DP=942;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=1.27;SOR=0.661	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr2	27578872	27578872	T	C	exonic	C2orf16	.	nonsynonymous SNV	C2orf16:NM_032266:exon1:c.T2300C:p.I767T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.102	B	0.022	B	.	.	1.000	N	0.695	N	2.95	T	-0.964	T	0.004	T	0.124	-0.067	3.675	2.41	0.420	0.133	4.915	0.011	.	0.0098	0.0109824	0.0028	0.0284	0.0022	0	0	0.0004	0	0.0001	0.0026908	416	154602	rs13416968	0.0011	0.0011	0.0012	0.0010	0.0302	0.0010	0.0010	0.0286	0.0280	0.0302	0.0026	0.0005	2.519e-05	5.617e-05	0.0029	0.0002	0.0024	9.275e-05	0.0088	0.0088	0.0087	0.0089	0.0295	0.0084	0.0082	0.0282	0.0276	0.0295	0.0022	0.0045	0.0003	0	0	0.0170	0.0004	0.0038	0.0002	0.167	0.23095	T	0.266	0.22627	T	0.102	0.25827	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.95	0.09635	T	-0.99	0.26200	N	0.14	0.13911	-0.9644	0.38330	T	0.004	0.01435	T	9	0.0030596852	0.00050	T	.	.	.	0.011	0.01250	.	.	0.0297737177859	0.01360	0.04474488649128446	0.04418	0.136421546733	0.15389	.	.	.	0.005144	0.04581	T	-0.668861	0.00056	T	-0.710551	0.05267	T	0.000265367619518916	0.00002	T	0.335566	0.07351	T	0.02709355	0.01852	0.040622678	0.04433	0.02709355	0.01852	0.040622678	0.04432	-3.238	0.12951	T	.	.	0.199	0.42244	B	.;.	.;.	0.451555	0.08217	4.954	0.74393103929761473	0.10679	0.05304	0.11151	N	AEBI	0.053579	0.09666	N	-0.951758281569804	0.09653	0.4578081	-0.910926211920886	0.11836	0.6054202	0.901080080681785	0.26092	0.615465	0.37627	0	0.610034	0.51514	0	0.577349	0.28860	0	0.655142	0.61905	0	.	.	4.83	2.41	0.28644	0.136000	0.15794	0.474000	0.18740	-1.628000	0.00857	0.176000	0.24013	0.993000	0.31925	0.005000	0.06747	0.0:0.0967:0.1882:0.7151	4.915	0.13194	67	0.97183	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1542.98	34	chr2	27578872	.	T	C	1542.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.411e+00;DP=1943;ExcessHet=0.0000;FS=2.252;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=1.37;SOR=0.503	GT:AD:DP:GQ:PL	0/0:105,0:105:99:0,120,1800	20	0	1	0
chr2	27581247	27581247	C	T	exonic	C2orf16	.	nonsynonymous SNV	C2orf16:NM_032266:exon1:c.C4675T:p.H1559Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.001	B	0.001	B	.	.	1.000	N	0.755	N	3.55	T	-0.910	T	0.002	T	0.021	0.287	5.555	-5.76	-1.329	-2.314	2.250	0.025	.	0.0111	0.0117812	0.0030	0.0319	0.0021	0	0	0.0004	0.0011	0.0001	0.0028978	448	154602	rs13392197	0.0012	0.0012	0.0013	0.0010	0.0341	0.0011	0.0011	0.0324	0.0317	0.0341	0.0027	0.0005	0	1.872e-05	0.0029	0.0002	0.0026	5.797e-05	0.0098	0.0098	0.0096	0.0099	0.0330	0.0094	0.0092	0.0316	0.0310	0.0330	0	0.0046	0.0003	0	0	0.0170	0.0004	0.0061	0	0.359	0.11957	T	0.747	0.04860	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.355	0.33814	L	3.55	0.04746	T	-1.21	0.30762	N	0.075	0.04913	-0.9097	0.46891	T	0.002	0.00585	T	9	0.003415078	0.00060	T	.	.	.	0.025	0.05312	.	.	0.0401082797425	0.02173	0.02933321229512109	0.02882	0.099276917984	0.11216	.	.	.	0.001812	0.01233	T	-0.787181	0.00010	T	-0.87844	0.00667	T	0.0171330708153037	0.00458	T	0.351465	0.08047	T	0.03453695	0.03894	0.045976486	0.06306	0.03453695	0.03894	0.045976486	0.06306	-5.273	0.39675	T	.	.	0.092	0.13876	B	.;.	.;.	-0.955187	0.00837	0.029	0.60675685736180729	0.06521	0.01493	0.04955	N	AEFBI	0.085442	0.17321	N	-1.63983468700926	0.01078	0.04681076	-1.72877256423336	0.01016	0.0455486	0.99981757338528	0.43459	0.516011	0.20929	0	0.610034	0.51514	0	0.59043	0.30614	0	0.567892	0.33627	0	.	.	4.05	-5.76	0.02183	-0.341000	0.07858	-2.416000	0.03781	-0.326000	0.05813	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1341:0.3469:0.1054:0.4136	2.250	0.03794	66	0.97223	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	4524.98	34	chr2	27581247	.	C	T	4524.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.680e-01;DP=1772;ExcessHet=0.0000;FS=2.147;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=0.888;SOR=0.725	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	20	0	1	0
chr2	27650129	27650129	C	T	exonic	GPN1	.	nonsynonymous SNV	GPN1:NM_001145049:exon12:c.C769T:p.H257Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.308	B	0.087	B	0.029	N	0.969	N	1.1	L	0.95	T	-0.970	T	0.092	T	0.227	2.300	13.65	5.17	2.665	3.763	15.521	0.033	0.00267552835508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.40832	D	0.091	0.57104	T	.	.	.	.	.	.	0.029068	0.25507	N	0.471231	0.988772	0.25766	N	1.59	0.40313	L	0.95	0.43279	T	-1.15	0.29525	N	0.268	0.37613	-0.9699	0.37220	T	0.092	0.35228	T	10	0.11295575	0.21205	T	0.002676	0.05463	T	0.033	0.08068	0.163	0.06730	0.378498632473	0.37457	0.12294395356980053	0.12220	0.280422615344	0.30528	0.340373247862	0.16494	T	0.006244	0.05676	T	-0.179908	0.23749	T	-0.496202	0.22742	T	0.628471314907074	0.37554	D	0.914708	0.69569	D	0.1408087	0.32471	0.15381986	0.36129	0.1408087	0.32471	0.15381986	0.36128	-3.95	0.23098	T	.	.	0.119	0.24833	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.539520	0.49704	22.8	0.97056225136999175	0.32176	0.82687	0.41881	D	AEFBI	0.370554	0.45688	N	-0.0469348882693378	0.39739	2.348402	0.0750475824862407	0.43297	2.63447	0.999988020627645	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.17	5.17	0.70848	4.143000	0.57817	4.839000	0.45267	0.530000	0.24713	0.920000	0.31959	0.923000	0.28366	0.984000	0.60418	0.0:1.0:0.0:0.0	15.521	0.75598	47	0.97709	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1201.98	34	chr2	27650129	.	C	T	1201.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=810;ExcessHet=0.0000;FS=4.874;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.13;ReadPosRankSum=-1.108e+00;SOR=1.230	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1174	20	0	1	0
chr2	27663876	27663876	G	T	exonic	SLC4A1AP	.	nonsynonymous SNV	SLC4A1AP:NM_018158:exon1:c.G124T:p.V42F,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.856	P	0.405	B	.	.	0.999	N	0	N	1.51	T	-1.092	T	0.043	T	0.408	2.920	15.73	3.21	1.073	1.564	8.120	0.083	0.00751667197332	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs116516953	1.094e-05	1.094e-05	9.528e-06	1.238e-05	0.0003	6.48e-06	5.24e-06	0.0002	0.0001	0.0003	0	0	0	0	0.0002	0	6.623e-05	1.159e-05	1.313e-05	1.312e-05	1.285e-05	1.343e-05	4.811e-05	2.18e-06	8.2e-07	7.97e-06	2.98e-06	4.811e-05	0	0	0	0	0	0	0	0	0	0.018	0.50676	D	0.065	0.44702	T	0.856	0.47190	P	0.405	0.44649	B	.	.	.	.	0.998582	0.22057	N	0.895	0.22405	L	1.51	0.30937	T	-0.49	0.15578	N	0.348	0.39962	-1.0916	0.05270	T	0.043	0.18285	T	9	0.17598346	0.32559	T	0.007517	0.19952	T	0.083	0.24192	.	.	0.536147182381	0.53264	0.11952718089600575	0.11879	0.349746417612	0.36819	0.344695687294	0.17138	T	0.007001	0.06422	T	-0.0449848	0.45207	T	-0.302394	0.44473	T	0.31269171833992	0.25524	T	0.248975	0.03721	T	0.09549109	0.22474	0.12396923	0.29886	0.09549109	0.22474	0.12396923	0.29885	-3.888	0.22122	T	.	.	0.079	0.07841	B	.;.	.;.	1.748284	0.22243	15.54	0.93522635219171368	0.23340	0.32342	0.24561	N	ALL	0.115741	0.22744	N	-0.358932915447921	0.26945	1.474548	-0.351123293277572	0.26474	1.462537	1.0	0.98316	0.266657	0.04791	1	0.218748	0.04544	0	0.47417	0.07244	0	0.372554	0.06265	0	.	.	4.08	3.21	0.35933	1.224000	0.32142	3.363000	0.37875	-0.185000	0.09859	0.918000	0.31901	1.000000	0.68203	0.310000	0.24737	0.1122:0.0:0.8878:0.0	8.120	0.30124	45	0.97767	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1985.98	35	chr2	27663876	.	G	T	1985.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.585;DP=880;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=0.768;SOR=0.692	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1257	20	0	1	0
chr2	28241340	28241340	A	C	exonic	BABAM2	.	nonsynonymous SNV	BABAM2:NM_001261840:exon9:c.A798C:p.Q266H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.995	D	0.989	D	0.000	D	1.000	D	1.445	L	.	.	-0.665	T	0.263	T	0.734	3.171	16.61	-0.522	-0.084	1.694	10.768	0.348	0.0084486016277	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1261314443	8.209e-06	8.209e-06	1.089e-05	5.501e-06	9.893e-06	4.38e-06	3.46e-06	5.31e-06	3.88e-06	0	0	0	0	0	0	9.893e-06	1.656e-05	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.007	0.61437	D	0.013	0.63109	D	0.995	0.67487	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999976	0.53665	D	.	.	.	.	.	.	-2.11	0.48020	N	0.818	0.81360	-0.6649	0.62059	T	0.263	0.63383	T	9	0.79867935	0.79303	D	0.008449	0.22357	T	0.348	0.66956	0.747	0.87821	0.469989170139	0.46626	0.6076074279087035	0.60692	1.01655600975	0.74972	0.770998001099	0.77575	T	0.146167	0.48364	T	0.13773	0.68108	D	-0.0399372	0.67705	D	0.606719482630829	0.36668	D	0.935306	0.75965	D	0.34136778	0.56388	0.21109742	0.45523	0.34136778	0.56388	0.21109742	0.45522	-5.601	0.42801	T	.	.	0.627	0.69987	P	.;.;.;.;.	.;.;.;.;.	3.319792	0.45653	22.2	0.99651772532913796	0.77317	0.92238	0.55254	D	AEFI	0.506828	0.53739	D	0.0541909668521106	0.44335	2.709491	-0.0129300759972159	0.39129	2.315467	0.546303419590996	0.21296	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.83	-0.522	0.11332	1.805000	0.38520	2.298000	0.32000	-0.142000	0.12367	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.5035:0.0:0.4965:0.0	10.768	0.45508	176	0.93188	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1180.98	37	chr2	28241340	.	A	C	1180.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.140e-01;DP=839;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.68;ReadPosRankSum=-7.490e-01;SOR=0.666	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1383	20	0	1	0
chr2	28590033	28590033	G	A	exonic	PLB1	.	nonsynonymous SNV	PLB1:NM_001170585:exon28:c.G2012A:p.R671H	.	.	426	1085	10	1	0	12	0.00549954	.	.	719830	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.001	B	0.003	B	0.180	N	1.000	N	-0.84	N	0.85	T	-0.986	T	0.028	T	0.378	0.402	6.181	-2.81	-0.615	-0.490	10.582	0.018	0.00505523124409	0.0012	0.00119808	0.0017	0.0005	0.0019	0	0	0.0015	0.0044	0.0048	0.0016753	259	154602	rs142897830	0.0019	0.0019	0.0018	0.0019	0.0046	0.0018	0.0018	0.0042	0.0040	0.0007	0.0014	0.0008	7.557e-05	7.489e-05	0.0033	0.0019	0.0020	0.0046	0.0014	0.0014	0.0014	0.0014	0.0052	0.0013	0.0012	0.0036	0.0031	0.0005	0	0.0012	0.0009	0	9.443e-05	0.0136	0.0021	0.0009	0.0052	0.251	0.23541	T	0.366	0.16668	T	0.0	0.02946	B	0.0	0.01387	B	0.179947	0.03174	N	1.544840	1	0.08975	N	-0.64	0.02118	N	0.85	0.47130	T	0.04	0.07444	N	0.18	0.19459	-0.9862	0.33542	T	0.028	0.11882	T	10	0.0034700632	0.00061	T	0.005055	0.12784	T	0.050	0.13987	.	.	0.221734844693	0.21761	0.15005884500736516	0.14927	0.0476105944955	0.05199	0.207062631845	0.00693	T	0.003579	0.06799	T	-0.530214	0.00383	T	-0.534126	0.18876	T	0.00130452338867979	0.00013	T	0.0860914	0.00631	T	0.021170365	0.00706	0.026839256	0.00797	0.021170365	0.00706	0.026839256	0.00796	-2.571	0.06286	T	.	.	0.063	0.03301	B	.;.;.	.;.;.	-0.562218	0.01677	0.120	0.61099216046395033	0.06625	0.00097	0.00633	N	AEFBI	0.032781	0.03768	N	-1.26402117559714	0.04117	0.185223	-1.32978890712622	0.04050	0.1902271	0.99984645876185	0.43971	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.61	-2.81	0.05459	-0.589000	0.05861	-0.912000	0.06951	-1.768000	0.00668	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.527:0.0:0.473:0.0	10.582	0.44449	670	0.60992	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2785.08	35	chr2	28590033	.	G	A	2785.08	.	AC=2;AF=0.048;AN=42;DP=842;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.01;SOR=0.778	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,104,1248	20	1	0	0
chr2	28606523	28606523	A	G	exonic	PLB1	.	nonsynonymous SNV	PLB1:NM_001170585:exon42:c.A3052G:p.T1018A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.027	B	0.013	B	0.565	N	1.000	N	1.245	L	0.89	T	-1.010	T	0.061	T	0.29	-1.835	0.009	-0.814	0.067	0.537	3.761	0.040	0.00258421393742	.	.	8.246e-06	9.656e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs531809743	1.163e-05	1.163e-05	9.529e-06	1.375e-05	0.0004	7.08e-06	5.79e-06	0.0002	0.0002	0.0004	0	0	0	0	0.0002	0	4.968e-05	0	4.603e-05	4.595e-05	2.572e-05	6.728e-05	0.0002	2.111e-05	1.528e-05	7.89e-05	5.586e-05	0.0002	0	0	0	0	0	0	0	0	0	0.751	0.03576	T	0.201	0.27503	T	0.007	0.19556	B	0.006	0.16460	B	0.564918	0.11298	N	0.800606	1	0.18878	N	1.27	0.32069	L	0.89	0.45636	T	-1.49	0.38924	N	0.204	0.22614	-1.0101	0.26886	T	0.061	0.25419	T	10	0.021672636	0.00523	T	0.002584	0.05206	T	0.040	0.10527	0.274	0.22528	0.139678290688	0.13603	0.29024573116522534	0.28937	0.041304716601	0.04434	0.355093508959	0.18670	T	0.008324	0.07654	T	-0.217891	0.18280	T	-0.550762	0.17252	T	0.0309602920013229	0.02140	T	0.436356	0.12220	T	0.04510274	0.07325	0.03868629	0.03792	0.04510274	0.07325	0.03868629	0.03792	-4.267	0.27712	T	.	.	0.094	0.14568	B	.;.	.;.	1.263721	0.16619	12.66	0.19342185697740044	0.00648	0.05342	0.11198	N	AEFDGBCI	0.041806	0.06406	N	-1.2100239472584	0.04853	0.2199272	-1.23611666411002	0.05340	0.2541847	0.999986981456742	0.51787	0.554377	0.28877	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.25	-0.814	0.10299	0.349000	0.19801	3.400000	0.38123	-0.054000	0.16847	0.006000	0.17386	0.134000	0.23028	0.226000	0.22626	0.5194:0.0:0.164:0.3166	3.761	0.08127	750	0.51762	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1951.98	34	chr2	28606523	.	A	G	1951.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.550e-01;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=-5.100e-02;SOR=0.662	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1145	20	0	1	0
chr2	28632060	28632060	T	C	exonic	PLB1	.	nonsynonymous SNV	PLB1:NM_001170585:exon54:c.T3889C:p.W1297R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.063	B	0.016	B	0.004	N	1.000	N	0.365	N	2.65	T	-1.037	T	0.016	T	0.441	0.706	7.762	-10.7	-1.604	-4.623	8.699	0.024	0.00340711915523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.839	0.02818	T	0.35	0.17696	T	0.063	0.23376	B	0.016	0.17743	B	0.004451	0.01025	N	2.583510	1	0.08975	N	1.505	0.38159	L	2.65	0.12676	T	-1.75	0.41428	N	0.19	0.20793	-1.0373	0.18140	T	0.016	0.06569	T	10	0.049373478	0.04518	T	0.003407	0.07664	T	0.101	0.28911	0.562	0.68229	0.0920862733494	0.08535	0.5205387129530598	0.51976	0.0718100602662	0.08045	0.281612038612	0.07718	T	0.007578	0.06977	T	-0.240776	0.15248	T	-0.583635	0.14221	T	0.0641011127038688	0.07797	T	0.338066	0.07246	T	0.18732876	0.40182	0.14159651	0.33715	0.18732876	0.40182	0.14159651	0.33714	-0.709	0.00810	T	.	.	0.127	0.26855	B	.;.	.;.	-0.760064	0.01188	0.058	0.50530324138679517	0.04400	0.00508	0.02383	N	AEFDBI	0.045951	0.07574	N	-1.60766401167952	0.01226	0.05334386	-1.72902322361368	0.01015	0.04550124	0.999999999832227	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.37	-10.7	0.00191	-4.653000	0.00234	-2.482000	0.03700	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.380000	0.26335	0.3966:0.4742:0.0:0.1291	8.699	0.33476	722	0.55239	GDSL lipase/esterase|Phospholipase B;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1449.98	44	chr2	28632060	.	T	C	1449.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.858;DP=895;ExcessHet=0.0000;FS=3.510;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=1.09;SOR=0.818	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1144	20	0	1	0
chr2	28851264	28851264	G	A	exonic	TRMT61B	.	nonsynonymous SNV	TRMT61B:NM_017910:exon5:c.C1120T:p.R374C,	.	.	.	.	.	.	.	.	.	.	.	2343809	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.078	B	0.015	B	0.023	N	0.557	D	2.945	M	1.71	T	-0.309	T	0.322	T	0.577	1.959	12.51	2.38	0.639	1.880	7.096	0.201	0.0138474791075	.	.	0.0001	0	8.72e-05	0	0	0.0002	0	0	9.06e-05	14	154602	rs781061232	7.119e-05	7.114e-05	7.9e-05	6.33e-05	7.647e-05	5.984e-05	5.592e-05	6.324e-05	5.826e-05	0	6.729e-05	7.661e-05	0	0.0001	0	7.647e-05	9.945e-05	1.163e-05	6.572e-05	6.567e-05	0.0001	2.69e-05	0.0001	3.517e-05	2.617e-05	5.842e-05	4.239e-05	2.414e-05	0	6.549e-05	0	0	0	0	0.0001	0	0	0.044	0.41096	D	0.002	0.79402	D	0.078	0.24389	B	0.015	0.17295	B	0.023133	0.26501	N	0.334215	0.556525	0.32177	D	2.485	0.72352	M	1.71	0.26737	T	-5.68	0.87223	D	0.367	0.40864	-0.3091	0.74730	T	0.322	0.69108	T	10	0.65512806	0.69829	D	0.013847	0.33560	T	0.201	0.48592	0.757	0.88648	0.481099667738	0.47738	0.6214351026367593	0.62076	0.137929739633	0.15554	0.220098525286	0.01316	T	0.204985	0.56391	T	-0.248708	0.14258	T	-0.3306	0.41403	T	0.414670139551163	0.29492	T	0.80242	0.44873	T	0.18174703	0.39360	0.28452078	0.54450	0.18174703	0.39360	0.28452078	0.54449	-11.479	0.82220	D	.	.	0.108	0.20352	B	.	.	3.361248	0.46405	22.3	0.98348633005718311	0.40517	0.78316	0.38620	D	AEFBI	0.164939	0.29138	N	0.141401827465532	0.48405	3.053206	0.0896790874463549	0.44027	2.692556	4.80497177445814E-4	0.07095	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.33	2.38	0.28415	1.706000	0.37497	2.536000	0.33191	0.676000	0.76740	0.996000	0.39380	0.995000	0.32472	0.992000	0.67800	0.146:0.0:0.7142:0.1398	7.096	0.24492	706	0.57215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	736.98	29	chr2	28851264	.	G	A	736.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.152;DP=725;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.04;ReadPosRankSum=0.845;SOR=0.673	GT:AD:DP:GQ:PL	0/0:32,0:32:90:0,90,1350	20	0	1	0
chr2	28869707	28869707	T	C	exonic	TRMT61B	.	nonsynonymous SNV	TRMT61B:NM_017910:exon1:c.A571G:p.K191E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.0	B	0.001	B	0.100	N	1.000	N	-1.27	N	2.15	T	-0.956	T	0.010	T	0.067	0.369	6.002	-0.275	-0.375	1.206	12.250	0.052	0.00407143791108	0.0006	0.00119808	0.0001	0.0015	0	0	0	1.498e-05	0	0	0.0001617	25	154602	rs113838676	8.551e-05	8.551e-05	9.256e-05	7.838e-05	0.0022	7.312e-05	6.815e-05	0.0018	0.0016	0.0022	0.0001	0	0	0	0.0002	8.993e-07	0.0007	0	0.0004	0.0004	0.0004	0.0004	0.0015	0.0003	0.0003	0.0012	0.0011	0.0015	0	0.0002	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.099840	0.19915	N	0.473437	0.999765	0.20447	N	0.57	0.15267	N	2.15	0.19311	T	1.88	0.00467	N	0.066	0.03841	-0.9563	0.39861	T	0.010	0.03582	T	10	0.0075855553	0.00172	T	0.004071	0.09712	T	0.052	0.14661	.	.	0.239901079897	0.23603	0.48204521509846304	0.48124	0.116037333508	0.13092	0.330566465855	0.15021	T	0.004052	0.03463	T	-0.673004	0.00053	T	-0.764128	0.02966	T	0.00455625391095068	0.00049	T	0.576042	0.20701	T	0.12485521	0.29284	0.11865003	0.28640	0.12485521	0.29284	0.11865003	0.28640	-2.585	0.06390	T	.	.	0.055	0.00361	B	.	.	1.660712	0.21177	15.09	0.74788147241631264	0.10827	0.04840	0.10571	N	AEFDGBCI	0.024932	0.01625	N	-1.11453418122625	0.06384	0.2937032	-0.89986011206412	0.12097	0.6203104	0.999987791652937	0.51787	0.627647	0.40530	0	0.52208	0.09955	0	0.685571	0.62057	0	0.657601	0.63696	0	.	.	5.5	-0.275	0.12268	1.238000	0.32310	-0.030000	0.12807	-0.871000	0.02547	0.772000	0.29380	0.006000	0.19429	0.011000	0.09372	0.0:0.8235:0.0:0.1765	12.250	0.53910	732	0.54084	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1166.98	43	chr2	28869707	.	T	C	1166.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.266e+00;DP=818;ExcessHet=0.0000;FS=3.455;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=-9.870e-01;SOR=0.440	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr2	28870277	28870277	T	C	exonic	TRMT61B	.	startloss	TRMT61B:NM_017910:exon1:c.A1G:p.M1?,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.112	B	0.069	B	0.100	N	1.000	N	.	.	0.97	T	-1.049	T	0.043	T	0.866	2.096	12.96	-2.69	-0.509	0.457	1.306	0.237	.	0.0005	0.00119808	0.0002	0.0020	0	0.0003	0	1.928e-05	0	0	0.0001876	29	154602	rs139528725	9.631e-05	9.645e-05	0.0001	7.659e-05	0.0023	8.299e-05	7.75e-05	0.0019	0.0017	0.0023	0.0005	0	0.0002	0	0.0002	8.295e-06	0.0005	0	0.0005	0.0005	0.0004	0.0005	0.0015	0.0004	0.0003	0.0012	0.0011	0.0015	0	0.0005	0	0	0	0	0	0	0	0.0	0.91255	D	0.035	0.52389	D	0.068	0.23728	B	0.031	0.21939	B	0.100077	0.19904	N	0.366329	1	0.08975	N	.	.	.	0.97	0.42502	T	-0.62	0.18248	N	0.804	0.79986	-1.0493	0.14593	T	0.043	0.18368	T	9	0.07175657	0.10621	T	0.013013	0.32072	T	0.237	0.54074	.	.	0.409398589964	0.40557	0.2936005066418663	0.29273	.	.	.	.	.	0.015961	0.13288	T	-0.0650345	0.42116	T	0.103727	0.77154	D	0.104045726150621	0.12796	T	0.9	0.65058	D	0.70207334	0.78170	0.45139396	0.68080	0.70207334	0.78171	0.45139396	0.68081	-7.597	0.58290	D	.	.	.	.	.	.	.	1.136150	0.15231	11.69	0.55410021359077177	0.05336	0.02164	0.06352	N	ALL	0.016552	0.00379	N	-1.07585047627906	0.07090	0.3283606	-1.16981480625648	0.06419	0.3089455	1.0	0.98316	0.024636	0.00146	3	0.374146	0.05931	1	0.239995	0.05000	1	0.56214	0.19341	0	.	.	4.83	-2.69	0.05668	0.284000	0.18624	0.530000	0.19240	-0.204000	0.08590	0.037000	0.20830	0.355000	0.24491	0.001000	0.02609	0.2862:0.0857:0.2951:0.333	1.306	0.01963	732	0.54084	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	888.98	43	chr2	28870277	.	T	C	888.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.52;DP=818;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.33;ReadPosRankSum=-8.880e-01;SOR=0.846	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr2	29017266	29017266	C	G	exonic	TOGARAM2	.	nonsynonymous SNV	TOGARAM2:NM_001321538:exon9:c.C1157G:p.S386C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.82	P	0.518	P	.	.	1.000	N	0.895	L	2.95	T	-1.057	T	0.028	T	0.063	1.533	11.08	3.94	2.382	0.888	8.156	0.067	0.00849498452251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.063	0.45110	T	0.726	0.42471	P	0.156	0.34472	B	.	.	.	.	1	0.08975	N	.	.	.	2.95	0.09635	T	-1.85	0.43334	N	0.119	0.10911	-1.0569	0.12543	T	0.028	0.11971	T	9	0.13990405	0.26596	T	0.008495	0.22457	T	0.067	0.19503	0.375	0.38830	0.0846915920261	0.08053	0.09958468488003487	0.09889	0.0549770881719	0.06090	0.303055882454	0.10858	T	0.01183	0.10494	T	-0.352141	0.04594	T	-0.743603	0.03741	T	0.220746066501971	0.21501	T	0.319468	0.06419	T	0.1205801	0.28370	0.117188975	0.28290	0.1205801	0.28370	0.117188975	0.28289	-5.568	0.42499	T	.	.	0.094	0.14614	B	.	.	1.520561	0.19520	14.31	0.76804278575346174	0.11616	0.15089	0.18738	N	AEFDBI	0.103339	0.20706	N	-0.308926171765287	0.28807	1.592088	-0.389188456459136	0.25318	1.391607	0.690791471117043	0.22586	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.84	3.94	0.44807	0.333000	0.19512	0.988000	0.23172	0.530000	0.24713	0.007000	0.17678	0.000000	0.08366	0.001000	0.02609	0.0:0.8083:0.0:0.1917	8.156	0.30332	443	0.79878	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	992.98	36	chr2	29017266	.	C	G	992.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.96;DP=838;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.82;ReadPosRankSum=-3.580e-01;SOR=0.650	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr2	29065032	29065032	G	A	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon2:c.C3704T:p.P1235L,	.	.	.	.	.	.	.	.	.	.	.	826232	Retinal_dystrophy|not_provided	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.996	D	0.848	P	0.313	N	1.000	N	1.905	M	1.77	T	-1.013	T	0.124	T	0.129	3.437	17.63	4.01	1.281	1.436	12.462	0.100	0.0141160271065	0.0002	0.000199681	9.26e-05	0.0004	0	0	0	0.0001	0	0	0.0001876	29	154602	rs201933656	0.0001	0.0002	0.0002	0.0001	0.0014	0.0001	0.0001	0.0011	0.0010	0.0010	0.0001	0	0.0014	0.0001	0	6.015e-05	0.0003	0.0004	0.0003	0.0003	0.0003	0.0004	0.0012	0.0003	0.0002	0.0006	0.0004	0.0007	0	0.0009	0	0.0012	0	0	2.943e-05	0	0.0002	0.005	0.63226	D	0.015	0.61642	D	0.996	0.68779	D	0.848	0.60574	P	0.312513	0.14409	N	0.664749	0.999999	0.08975	N	.	.	.	1.77	0.25841	T	-6.65	0.92260	D	0.078	0.05287	-1.0128	0.26038	T	0.124	0.42799	T	10	0.03174171	0.01313	T	0.014116	0.34021	T	0.100	0.28662	.	.	0.380564188046	0.37663	0.030662640420139938	0.03015	0.0146235893545	0.01385	.	.	.	0.03758	0.24526	T	-0.556788	0.00265	T	-0.579827	0.14561	T	0.0838263039763814	0.10469	T	0.543646	0.18539	T	0.19084202	0.40687	0.21174072	0.45616	0.17048335	0.37626	0.18425384	0.41465	-4.111	0.25452	T	.	.	0.079	0.07130	B	.	.	2.043095	0.25971	16.95	0.99577216846535732	0.72802	0.12683	0.17417	N	AEFDGBI	0.083016	0.16816	N	-0.0674691833841178	0.38826	2.280007	-0.2629053434974	0.29330	1.642392	0.99998648034073	0.51787	0.616025	0.39624	0	0.547309	0.14657	0	0.574621	0.27300	0	0.542086	0.14980	0	.	.	4.88	4.01	0.45821	1.486000	0.35138	3.759000	0.39711	0.676000	0.76740	0.005000	0.17040	0.959000	0.29258	0.006000	0.07323	0.0809:0.0:0.9191:0.0	12.462	0.55077	449	0.79428	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1012.98	41	chr2	29065032	.	G	A	1012.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=1099;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=1.17;SOR=0.798	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	20	0	1	0
chr2	29071203	29071203	T	C	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.A3059G:p.Q1020R,	.	.	0	1503	19	0	0	19	0.00628099	.	.	190300	Retinitis_pigmentosa|not_provided	Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.42	T	0.063	B	0.018	B	0.560	N	1.000	N	1.7	L	2.01	T	-0.991	T	0.041	T	0.17	1.931	12.41	1.51	0.323	0.515	5.306	0.026	.	0.0002	0.00279553	0.0086	0.0024	0.0024	0	0.0121	0.0128	0.0074	0.0010	0.0068757	1063	154602	rs200367963	0.0087	0.0087	0.0089	0.0085	0.0098	0.0086	0.0085	0.0097	0.0096	0.0018	0.0029	0.0169	0	0.0115	0.0056	0.0098	0.0074	0.0009	0.0063	0.0063	0.0066	0.0059	0.0097	0.0059	0.0058	0.0091	0.0089	0.0014	0	0.0043	0.0179	0	0.0085	0	0.0097	0.0071	0.0006	0.117	0.28271	T	0.323	0.18959	T	0.063	0.23376	B	0.018	0.18489	B	0.559511	0.11351	N	0.796203	1	0.08975	N	.	.	.	2.01	0.21291	T	-3.06	0.63090	D	0.084	0.06059	-0.9912	0.32295	T	0.041	0.17700	T	10	0.0048058033	0.00102	T	.	.	.	0.026	0.05648	.	.	0.249502417897	0.24576	0.21886280284673723	0.21802	0.0140011853721	0.01334	.	.	.	0.019667	0.15628	T	-0.567802	0.00228	T	-0.57899	0.14634	T	0.00539879757628147	0.00059	T	0.376562	0.08996	T	0.16208237	0.36261	0.17164351	0.39362	0.1437882	0.33031	0.17164351	0.39361	-3.378	0.14762	T	.	.	0.103	0.18539	B	.	.	1.436758	0.18559	13.80	0.98913200757516251	0.48418	0.42764	0.26950	N	AEFDBI	0.121755	0.23657	N	-0.644156492515505	0.17630	0.9088619	-0.611557115836324	0.19196	1.028853	0.109324984171799	0.16604	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.29	1.51	0.22094	0.539000	0.22885	0.395000	0.17934	0.609000	0.47794	0.152000	0.23684	0.953000	0.29079	0.385000	0.26447	0.1293:0.2894:0.0:0.5813	5.306	0.15116	449	0.79428	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	3270.98	33	chr2	29071203	.	T	C	3270.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=872;ExcessHet=0.0000;FS=4.465;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.80;ReadPosRankSum=-1.131e+00;SOR=1.057	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1209	20	0	1	0
chr2	29071204	29071204	G	T	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.C3058A:p.Q1020K,	.	.	0	1507	15	0	0	15	0.00495213	.	.	190299	not_provided|Retinitis_pigmentosa	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.53	T	0.454	P	0.09	B	0.560	N	1.000	N	2.045	M	2.0	T	-1.052	T	0.051	T	0.233	2.164	13.19	4.38	2.469	2.834	11.656	0.105	.	.	0.00279553	0.0085	0.0024	0.0024	0	0.0121	0.0127	0.0074	0.0010	0.0068693	1062	154602	rs201355503	0.0087	0.0087	0.0089	0.0085	0.0098	0.0086	0.0085	0.0097	0.0096	0.0017	0.0029	0.0169	0	0.0115	0.0053	0.0098	0.0074	0.0009	0.0063	0.0063	0.0066	0.0059	0.0097	0.0059	0.0058	0.0091	0.0088	0.0014	0	0.0043	0.0179	0	0.0085	0	0.0097	0.0071	0.0006	0.148	0.24857	T	0.356	0.17166	T	0.454	0.36182	P	0.09	0.29851	B	0.559511	0.11351	N	0.796203	1	0.08975	N	.	.	.	2.0	0.21473	T	-3.06	0.63090	D	0.25	0.28264	-1.0517	0.13926	T	0.051	0.21611	T	10	0.0063916743	0.00145	T	.	.	.	0.105	0.29889	.	.	0.393316636838	0.38940	0.2500554077571631	0.24919	0.0237916299832	0.02408	.	.	.	0.034351	0.23286	T	-0.541652	0.00328	T	-0.541427	0.18156	T	0.0217380883788979	0.00880	T	0.458954	0.13262	T	0.35774997	0.57664	0.20621154	0.44825	0.30511588	0.53360	0.20621154	0.44824	-3.734	0.19821	T	.	.	0.123	0.25689	B	.	.	3.092638	0.41652	21.4	0.98464053864446577	0.41780	0.67894	0.33599	D	AEFDBI	0.114024	0.22475	N	-0.131883062482818	0.36009	2.075708	-0.0888338562462418	0.35850	2.079073	0.590696172868296	0.21644	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.29	4.38	0.52019	2.585000	0.45776	8.340000	0.76993	0.526000	0.24426	0.441000	0.26495	1.000000	0.68203	0.475000	0.28453	0.0:0.1335:0.728:0.1385	11.656	0.50578	449	0.79428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2284.98	33	chr2	29071204	.	G	T	2284.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.551e+00;DP=871;ExcessHet=0.0000;FS=7.730;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.13;ReadPosRankSum=-1.341e+00;SOR=1.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1209	20	0	1	0
chr2	29072452	29072452	C	A	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.G1810T:p.V604L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.206	B	0.091	B	0.308	N	1.000	N	1.59	L	2.1	T	-0.992	T	0.053	T	0.123	1.476	10.88	-4.27	-0.966	-0.122	13.659	0.069	0.00873176784212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.22224	T	0.224	0.25591	T	0.206	0.29860	B	0.091	0.29943	B	0.307856	0.03995	N	1.545370	1	0.08975	N	.	.	.	2.1	0.19990	T	-1.14	0.29323	N	0.121	0.11197	-0.9915	0.32218	T	0.053	0.22307	T	10	0.06606516	0.09006	T	0.008732	0.23050	T	0.069	0.20116	0.072	0.00442	0.183819452728	0.17975	0.06190834643945635	0.06130	0.0173074127301	0.01682	.	.	.	0.003313	0.02718	T	-0.306838	0.08030	T	-0.678528	0.07073	T	0.243824660778046	0.22594	T	0.49745	0.15470	T	0.07566836	0.17063	0.08996592	0.21071	0.07566836	0.17063	0.08996592	0.21070	-2.593	0.06450	T	.	.	0.139	0.30318	B	.	.	-0.828152	0.01053	0.045	0.91723711181086331	0.21019	0.22442	0.21748	N	AEFDBI	0.119383	0.23302	N	-0.926664646336934	0.10221	0.48743	-1.03205319797465	0.09084	0.450046	0.412841090986667	0.20227	0.569682	0.32691	0	0.547309	0.14657	0	0.657636	0.52715	0	0.542086	0.14980	0	.	.	5.32	-4.27	0.03486	-0.090000	0.11129	-10.233000	0.00724	-0.177000	0.10537	0.000000	0.06391	0.000000	0.08366	0.040000	0.14268	0.0:0.4075:0.0:0.5925	13.659	0.61832	449	0.79428	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	6389.98	474	chr2	29072452	.	C	A	6389.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.18;DP=5161;ExcessHet=0.0000;FS=1.118;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.99;ReadPosRankSum=-8.400e-02;SOR=0.574	GT:AD:DP:GQ:PL	0/1:248,244:492:99:6404,0,6338	20	0	1	0
chr2	29181751	29181751	G	A	exonic	CLIP4	.	nonsynonymous SNV	CLIP4:NM_001287527:exon16:c.G1976A:p.R659Q	.	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524	P	0.097	B	0.013	N	1.000	D	0.75	N	-0.81	T	-0.812	T	0.200	T	0.244	4.216	21.9	3.55	1.404	6.423	11.743	0.211	0.0577207618076	0.0002	.	0.0002	9.61e-05	0.0005	0	0	0.0002	0	6.056e-05	0.0001488	23	154602	rs140795468	5.883e-05	5.883e-05	5.309e-05	6.463e-05	0.0023	4.876e-05	4.496e-05	0.0013	0.0011	8.961e-05	0.0002	0	0.0001	0	0.0023	4.407e-05	6.624e-05	2.319e-05	2.629e-05	2.627e-05	2.57e-05	2.691e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.415e-05	0	0	0	0.0002	0	0	2.94e-05	0	0	0.163	0.23450	T	0.117	0.36365	T	0.524	0.37583	P	0.097	0.30390	B	0.012891	0.29020	N	0.314649	0.98641	0.81001	D	0.84	0.21119	L	-0.81	0.73949	T	-1.75	0.41428	N	0.367	0.40864	-0.8119	0.54435	T	0.200	0.55584	T	9	0.19870049	0.35850	T	0.057721	0.67066	D	0.211	0.50185	.	.	0.776461409521	0.77440	0.5704689860742618	0.56974	0.514435909998	0.49391	0.51497733593	0.40919	T	0.449065	0.79070	T	-0.24702	0.14466	T	-0.290882	0.45682	T	0.0766306488327801	0.09551	T	0.960904	0.85339	D	0.083700605	0.19341	0.089133374	0.20825	0.083700605	0.19340	0.089133374	0.20824	-12.316	0.86356	D	.	.	0.300	0.53001	B	.;.	.;.	4.858363	0.79476	27.1	0.99937954123095907	0.99698	0.96850	0.71278	D	AEFBI	0.470329	0.51634	N	0.059718182546637	0.44590	2.730324	0.197525499550104	0.49713	3.171108	0.205071454601899	0.18171	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.69	3.55	0.39770	6.536000	0.73748	8.466000	0.77258	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0733:0.0:0.8008:0.1259	11.743	0.51070	570	0.70478	CAP Gly-rich domain|CAP Gly-rich domain|CAP Gly-rich domain|CAP Gly-rich domain;CAP Gly-rich domain|CAP Gly-rich domain|CAP Gly-rich domain|CAP Gly-rich domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1960.98	33	chr2	29181751	.	G	A	1960.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.045e+00;DP=864;ExcessHet=0.0000;FS=1.252;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=0.284;SOR=0.578	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr2	29920520	29920520	G	A	exonic	ALK	.	nonsynonymous SNV	ALK:NM_004304:exon1:c.C140T:p.S47L,	.	.	1	1520	1	0	0	1	0.000328839	.	.	450842	not_provided|Neuroblastoma,_susceptibility_to,_3	MedGen:C3661900|MONDO:MONDO:0013083,MedGen:C2751681,OMIM:613014,Orphanet:635	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.996	D	0.773	P	.	.	0.997	D	0.805	L	2.1	T	0.099	D	0.588	D	0.621	5.563	35	5.16	2.558	7.579	16.492	0.142	0.407676999757	.	0.000399361	0.0004	0	9.76e-05	0.0001	0	0	0.0014	0.0028	0.0003105	48	154602	rs541315214	0.0002	0.0002	8.997e-05	0.0002	0.0026	0.0001	0.0001	0.0023	0.0022	0	0	0	0	0	0.0002	8.997e-07	0.0001	0.0026	8.535e-05	8.53e-05	5.139e-05	0.0001	0.0025	4.953e-05	3.96e-05	0.0014	0.0011	0	0	0	0	0.0002	0	0	0	0	0.0025	0.0	0.91255	D	0.0	0.92824	D	0.996	0.68779	D	0.773	0.56974	P	.	.	.	.	0.996545	0.43267	D	0.695	0.17993	N	-2.09	0.86077	D	-0.95	0.25332	N	0.493	0.52651	0.099	0.84152	D	0.588	0.85250	D	8	0.019100785	0.00423	T	0.407677	0.93531	D	0.142	0.37995	0.269	0.21735	0.709269874621	0.70673	0.40241703137644824	0.40157	0.646462696076	0.58056	0.676629900932	0.63786	T	0.136516	0.46893	T	-0.177424	0.24120	T	-0.0322497	0.68219	D	0.104260885084788	0.12819	T	0.79512	0.43772	T	0.37242508	0.58764	0.43154827	0.66769	0.3636057	0.58109	0.49254826	0.70647	-2.368	0.04940	T	.	.	0.568	0.67564	P	.	.	5.377160	0.90129	31	0.99915903837266185	0.98379	0.88422	0.48343	D	AEFDBHCIJ	0.873577	0.79600	D	0.543525104609288	0.69688	5.392746	0.593463177061986	0.74467	6.142437	0.999999998298515	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	5.16	5.16	0.70563	6.251000	0.72393	11.579000	0.93331	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	16.492	0.84047	816	0.41767	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	672.98	33	chr2	29920520	.	G	A	672.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.47;DP=773;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.20;ReadPosRankSum=-1.148e+00;SOR=0.619	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1112	20	0	1	0
chr2	30234416	30234416	T	G	exonic	LBH	.	nonsynonymous SNV	LBH:NM_030915:exon2:c.T38G:p.L13R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.952	D	0.000	D	1.000	D	1.7	L	.	.	-0.449	T	0.302	T	0.858	3.705	18.82	4.47	1.649	4.206	11.710	0.371	0.0246585186963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.107e-06	9.579e-06	6.811e-06	1.376e-06	2.988e-05	1.48e-06	9.7e-07	1.32e-06	9.6e-07	2.988e-05	0	0	0	0	0	4.5e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.004	0.76473	D	0.999	0.77913	D	0.952	0.69102	D	0.000381	0.45194	D	0.093670	0.999938	0.81001	D	2.045	0.56016	M	.	.	.	-0.91	0.81350	N	0.9	0.90025	-0.4494	0.70420	T	0.302	0.67279	T	9	0.61214733	0.67504	D	0.024659	0.47647	T	0.371	0.69016	0.508	0.60386	0.101711395817	0.09552	0.828082130339371	0.82766	1.26608907093	0.82163	0.743519306183	0.73490	T	0.025059	0.45522	T	0.345667	0.86215	D	0.25875	0.86032	D	0.922763764858246	0.58307	D	0.909809	0.68064	D	0.5131131	0.67861	0.31296772	0.57296	0.5131131	0.67862	0.31296772	0.57296	-3.744	0.19970	T	.	.	0.158	0.49117	B	.;.;.;.	.;.;.;.	3.743980	0.53625	23.4	0.99725078406947953	0.82336	0.74999	0.36704	D	ALL	0.612026	0.60026	D	0.509662549157966	0.67660	5.111258	0.473515311675174	0.66242	4.92645	1.0	0.98316	0.675385	0.55134	0	0.672317	0.65289	0	0.693117	0.63056	0	0.63947	0.58350	0	.	.	4.47	4.47	0.53770	3.904000	0.56038	4.165000	0.42235	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:0.0:0.0:1.0	11.710	0.50885	920	0.19381	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1449.98	37	chr2	30234416	.	T	G	1449.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.100e-01;DP=814;ExcessHet=0.0000;FS=2.564;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.43;ReadPosRankSum=-1.013e+00;SOR=0.964	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1242	20	0	1	0
chr2	30751120	30751120	C	T	exonic	CAPN13	.	nonsynonymous SNV	CAPN13:NM_144575:exon11:c.G1219A:p.D407N,	.	.	.	.	.	.	.	.	.	.	.	3298897	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.0	B	0.001	B	0.549	N	1.000	N	-0.69	N	-2.19	D	-0.828	T	0.266	T	0.078	-0.502	1.700	-1.9	-0.082	0.306	1.523	0.111	0.0119773880604	0.0004	.	7.92e-05	0.0007	0.0002	0	0	0	0	6.525e-05	5.82e-05	9	154602	rs370249872	2.806e-05	2.805e-05	3.404e-05	2.201e-05	0.0007	2.087e-05	1.879e-05	0.0004	0.0004	0.0007	8.951e-05	0	0	0	0	9.895e-06	4.97e-05	1.16e-05	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	9.703e-05	0.0004	0.0003	0.0006	0	0	0	0	0	0	1.47e-05	0	0	0.374	0.11406	T	0.481	0.11864	T	0.0	0.02946	B	0.001	0.04355	B	0.548627	0.05357	N	1.267680	1	0.08975	N	-0.695	0.01866	N	-2.19	0.86815	D	0.6	0.02518	N	0.087	0.06454	-0.8278	0.53442	T	0.266	0.63781	T	10	0.02390477	0.00640	T	0.011977	0.30135	T	0.111	0.31313	.	.	0.41921206133	0.41539	0.42235477638552926	0.42152	0.059343634591	0.06593	0.280311882496	0.07536	T	0.165042	0.51073	T	-0.483713	0.00704	T	-0.525372	0.19752	T	0.00166357994093978	0.00017	T	0.257074	0.04045	T	0.03266666	0.03337	0.032254357	0.01933	0.03266666	0.03336	0.032254357	0.01933	-3.924	0.22662	T	.	.	0.097	0.15609	B	.	.	0.386702	0.07583	4.241	0.51228883116923318	0.04525	0.00061	0.00447	N	AEFGBI	0.022047	0.01053	N	-1.39316967280298	0.02701	0.1196641	-1.39677889731859	0.03286	0.1529869	0.0447935340543339	0.14626	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.01	-1.9	0.07248	0.302000	0.18947	-0.030000	0.12807	-0.761000	0.03509	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1603:0.116:0.3908:0.3328	1.523	0.02367	854	0.34840	Peptidase C2, calpain, large subunit, domain III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1739.98	34	chr2	30751120	.	C	T	1739.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.160e-01;DP=830;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.08;ReadPosRankSum=-3.140e-01;SOR=0.648	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1295	20	0	1	0
chr2	31138082	31138082	C	T	exonic	GALNT14	.	nonsynonymous SNV	GALNT14:NM_001253826:exon1:c.G5A:p.R2Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.077	B	0.007	B	.	.	1.000	D	2.05	M	0.45	T	-0.843	T	0.194	T	0.373	4.177	21.6	2.45	0.359	2.380	7.030	0.142	0.450402964365	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1002582670	6.843e-07	6.84e-07	1.362e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	6.572e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.005	0.63226	D	0.018	0.65728	D	0.077	0.24313	B	0.006	0.12133	B	.	.	.	.	0.958792	0.26211	N	1.965	0.53209	M	0.01	0.64445	T	-1.24	0.35597	N	0.41	0.45047	-0.8432	0.52433	T	0.194	0.54696	T	9	0.37444198	0.53724	T	0.450403	0.94331	D	0.142	0.37995	0.406	0.43902	0.675487593128	0.67273	0.7432184747350956	0.74267	0.770644162254	0.64742	0.788628458977	0.80233	T	0.011863	0.10523	T	-0.0873781	0.38507	T	-0.266435	0.48179	T	0.608716524196086	0.36749	D	0.823718	0.48487	T	0.2085394	0.43094	0.13599582	0.32546	0.2085394	0.43094	0.13599582	0.32546	-6.127	0.49922	T	.	.	0.158	0.36947	B	.;.;.	.;.;.	4.277410	0.65129	24.8	0.99896831703166533	0.96971	0.88673	0.48712	D	ALL	0.287074	0.39931	N	-0.237653261163741	0.31600	1.773472	-0.159058584959994	0.33061	1.887275	0.999999999999894	0.74766	0.685219	0.55550	0	0.552344	0.17405	0	0.674405	0.61402	0	0.554799	0.18163	0	.	.	4.29	2.45	0.28953	2.514000	0.45164	5.756000	0.49655	0.469000	0.21855	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.7286:0.1741:0.0973	7.030	0.24139	934	0.15400	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1715.98	36	chr2	31138082	.	C	T	1715.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.235;DP=883;ExcessHet=0.0000;FS=0.610;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=1.90;SOR=0.781	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr2	32115733	32115735	CTT	-	exonic	SPAST	.	nonframeshift deletion	SPAST:NM_001363875:exon5:c.803_805del:p.S269del	Spastic paraplegia 4, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1330580691	1.371e-06	1.368e-06	1.365e-06	1.378e-06	2.993e-05	2.3e-07	9e-08	.	.	2.993e-05	0	0	0	0	0	0	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1100.94	33	chr2	32115732	.	CCTT	C	1100.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.380;DP=753;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.48;ReadPosRankSum=1.42;SOR=0.760	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr2	32415923	32415923	A	G	exonic	BIRC6	.	nonsynonymous SNV	BIRC6:NM_001378125:exon10:c.A2548G:p.I850V	.	.	.	.	.	.	.	.	.	.	.	2677263	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.56	T	0.0	B	0.0	B	0.365	N	1.000	N	0.345	N	0.03	T	-1.072	T	0.105	T	0.023	-1.052	0.193	-0.29	-0.366	0.407	2.1	0.060	0.0201834544714	.	.	4.121e-05	0	0	0.0002	0	4.497e-05	0	0	3.23e-05	5	154602	rs780140402	3.352e-05	3.352e-05	2.587e-05	4.126e-05	0.0002	2.566e-05	2.312e-05	4.907e-05	3.165e-05	0	2.236e-05	0.0003	0.0001	0	0.0002	2.428e-05	8.282e-05	1.159e-05	3.942e-05	3.94e-05	1.285e-05	6.725e-05	0.0002	1.715e-05	1.129e-05	2.846e-05	1.858e-05	0	0	0	0	0.0002	0	0	7.35e-05	0	0	0.635	0.05076	T	0.344	0.17804	T	.	.	.	.	.	.	0.365327	0.04328	N	1.374590	1	0.08975	N	.	.	.	0.03	0.62183	T	0.05	0.06369	N	0.031	0.00770	-1.0719	0.09001	T	0.105	0.38538	T	10	0.011182696	0.00246	T	0.020183	0.42720	T	0.060	0.17295	.	.	0.19168177325	0.18762	0.1578987500114644	0.15710	0.14333016732	0.16180	0.221379324794	0.01391	T	.	.	.	-0.507552	0.00518	T	-0.660863	0.08208	T	0.0261414553970098	0.01425	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00341	B	.	.	0.621284	0.09899	6.657	0.43283184295674321	0.03248	0.07006	0.13033	N	AEFBI	0.029528	0.02802	N	-1.21758748194383	0.04744	0.214791	-1.12645833803769	0.07197	0.3492166	0.0709368198422467	0.15548	0.706548	0.73137	0	0.653731	0.59785	0	0.575934	0.27490	0	0.714379	0.83352	0	.	.	5.76	-0.29	0.12211	0.435000	0.21228	0.111000	0.14782	-0.576000	0.04747	0.008000	0.17931	0.002000	0.18203	0.987000	0.62547	0.3298:0.1152:0.4363:0.1186	2.1	0.03454	297	0.88113	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1565.98	33	chr2	32415923	.	A	G	1565.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.997;DP=804;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.16;ReadPosRankSum=-7.950e-01;SOR=0.713	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1135	20	0	1	0
chr2	32429212	32429212	T	G	exonic	BIRC6	.	nonsynonymous SNV	BIRC6:NM_001378125:exon11:c.T2855G:p.V952G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.596	P	0.137	B	0.000	D	1.000	D	1.525	L	-0.87	T	-0.439	T	0.282	T	0.682	2.907	15.69	4.76	1.901	5.894	14.570	0.480	0.0475456823883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.011	0.64786	D	.	.	.	.	.	.	0.000053	0.53742	D	0.075288	1	0.81001	D	.	.	.	-0.87	0.74583	T	-2.13	0.48354	N	0.354	0.39558	-0.4388	0.70770	T	0.282	0.65399	T	10	0.29624084	0.47190	T	0.047546	0.62970	D	0.480	0.77077	0.386	0.40624	0.804443288802	0.80261	0.6978224111081791	0.69723	0.441022210684	0.44097	0.646987318993	0.59557	T	.	.	.	0.127836	0.67149	D	-0.0541495	0.66737	D	0.897455751895905	0.54937	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	0.55597	B	.	.	3.615243	0.51130	23.1	0.99062762525367654	0.51528	0.97493	0.75105	D	AEFGBI	0.688407	0.64942	D	0.229917418270097	0.52654	3.438208	0.319220305462388	0.56668	3.830694	0.999999586592414	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.76	4.76	0.60189	5.852000	0.69220	5.030000	0.46819	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	14.570	0.67798	303	0.87825	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	337.98	35	chr2	32429212	.	T	G	337.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.570e-01;DP=692;ExcessHet=0.0000;FS=1.219;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.45;ReadPosRankSum=0.718;SOR=0.941	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1035	20	0	1	0
chr2	32811205	32811205	C	G	exonic	TTC27	.	nonsynonymous SNV	TTC27:NM_001193509:exon17:c.C2030G:p.P677R	.	.	.	.	.	.	.	.	.	.	.	3487224	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.52	T	0.868	P	0.23	B	0.012	N	0.577	D	0.295	N	1.25	T	-1.060	T	0.041	T	0.488	0.418	6.271	5.22	2.708	1.311	8.512	0.097	0.00781855456823	.	.	1.798e-05	0	0	0.0003	0	0	0	0	1.29e-05	2	154602	rs764606131	4.79e-06	4.788e-06	8.169e-06	1.376e-06	0.0002	1.99e-06	1.28e-06	8.199e-05	5.785e-05	0	0	0	0.0002	0	0	0	0	0	1.314e-05	1.314e-05	1.285e-05	1.345e-05	0.0004	2.18e-06	8.2e-07	6.83e-05	2.858e-05	0	0	0	0	0.0004	0	0	0	0	0	0.104	0.29959	T	0.386	0.15698	T	0.868	0.47740	P	0.23	0.38212	B	0.011574	0.29481	N	0.392664	0.577192	0.32344	D	1.385	0.34509	L	1.25	0.36512	T	-0.67	0.19297	N	0.41	0.45047	-1.0604	0.11656	T	0.041	0.17488	T	10	0.11862698	0.22431	T	0.007819	0.20747	T	0.097	0.27909	0.324	0.30549	0.458464862945	0.45469	0.3948830912160548	0.39403	0.0555837444901	0.06145	0.393298566341	0.24134	T	0.063248	0.32127	T	-0.290813	0.09555	T	-0.36336	0.37662	T	0.146137476463805	0.16792	T	0.723828	0.33737	T	0.04136281	0.06077	0.036145274	0.03003	0.04136281	0.06076	0.036145274	0.03003	-6.613	0.51153	T	.	.	0.092	0.13409	B	.	.	3.457358	0.48168	22.6	0.93599302804643092	0.23455	0.71298	0.34953	D	AEFDGBIJ	0.081622	0.16518	N	-0.0577258694710987	0.39258	2.312178	0.0286986845631479	0.41052	2.460047	0.999975671752193	0.50053	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.22	5.22	0.72285	1.358000	0.33706	7.657000	0.64017	0.599000	0.40250	0.992000	0.37556	1.000000	0.68203	0.321000	0.24994	0.2637:0.5829:0.1534:0.0	8.512	0.32383	208	0.91895	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	815.98	33	chr2	32811205	.	C	G	815.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.515e+00;DP=736;ExcessHet=0.0000;FS=1.323;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.40;ReadPosRankSum=0.740;SOR=1.085	GT:AD:DP:GQ:PL	0/1:25,28:53:99:830,0,698	20	0	1	0
chr2	33262794	33262794	A	G	exonic	LTBP1	.	nonsynonymous SNV	LTBP1:NM_000627:exon10:c.A1513G:p.T505A	.	.	428	1093	1	0	0	1	0.000457247	.	.	719863	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.06	T	0.993	D	0.907	P	.	.	1.000	D	1.445	L	1.64	T	-0.258	T	0.243	T	0.622	3.062	16.22	5.29	2.017	7.344	14.493	0.423	.	0.0128	0.0109824	0.0032	0.0359	0.0009	0	0	8.996e-05	0.0033	0	0.0031047	480	154602	rs142857073	0.0009	0.0009	0.0010	0.0008	0.0326	0.0009	0.0008	0.0310	0.0303	0.0326	0.0017	0	0	0	0.0007	1.174e-05	0.0019	8.22e-05	0.0097	0.0097	0.0104	0.0089	0.0337	0.0093	0.0091	0.0322	0.0316	0.0337	0	0.0035	0	0	0	0	7.353e-05	0.0057	0.0002	0.039	0.47745	D	0.147	0.60337	T	0.989	0.63424	D	0.81	0.58608	P	.	.	.	.	0.998483	0.44980	D	0.975	0.24501	L	-1.45	0.80899	T	-2.33	0.54382	N	0.685	0.77883	-0.2577	0.76150	T	0.243	0.61166	T	9	0.004365921	0.00089	T	.	.	.	0.423	0.73152	.	.	0.524456804389	0.52091	0.48123164992443973	0.48043	0.391002037977	0.40307	0.416758179665	0.27391	T	0.475811	0.80671	T	-0.211594	0.19156	T	-0.0495568	0.67052	D	0.0293856541291526	0.01895	T	0.926607	0.73770	D	0.073496036	0.16427	0.113518395	0.27398	0.073496036	0.16427	0.113518395	0.27397	-11.615	0.82925	D	.	.	0.138	0.35705	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.647692	0.51758	23.1	0.99617086988009773	0.75172	0.98815	0.87215	D	AEFBI	0.745102	0.68788	D	0.377331939773232	0.60196	4.205864	0.357409538057148	0.58954	4.069514	0.999964256053344	0.48965	0.732398	0.92422	0	0.610034	0.51514	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.29	5.29	0.74430	7.358000	0.78724	11.202000	0.89070	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.126000	0.19410	1.0:0.0:0.0:0.0	14.493	0.67248	849	0.35778	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	677.98	33	chr2	33262794	.	A	G	677.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=754;ExcessHet=0.0000;FS=3.433;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=-5.510e-01;SOR=0.614	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1011	20	0	1	0
chr2	33280135	33280135	G	A	exonic	LTBP1	.	nonsynonymous SNV	LTBP1:NM_000627:exon15:c.G2111A:p.R704Q	.	.	428	1036	52	6	0	64	0.0299625	.	.	719864	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.07	T	0.059	B	0.019	B	.	.	1.000	D	0.295	N	-2.22	D	-0.498	T	0.311	T	0.289	2.709	15.02	3.73	1.349	2.363	9.817	0.034	.	0.0032	0.00638978	0.0065	0.0005	0.0025	0	0.0018	0.0049	0.0110	0.0247	0.0059637	922	154602	rs61754247	0.0045	0.0045	0.0037	0.0053	0.0251	0.0044	0.0044	0.0242	0.0239	0.0004	0.0026	0.0098	0	0.0024	0.0163	0.0032	0.0048	0.0251	0.0036	0.0036	0.0031	0.0041	0.0228	0.0033	0.0032	0.0194	0.0181	0.0005	0.0055	0.0043	0.0069	0.0004	0.0021	0.0102	0.0041	0.0061	0.0228	0.154	0.31088	T	0.086	0.40909	T	0.059	0.23051	B	0.019	0.18783	B	.	.	.	.	0.823765	0.34814	D	0.12	0.08593	N	-2.22	0.87038	D	-1.72	0.44852	N	0.216	0.30461	-0.4979	0.68725	T	0.311	0.68157	T	9	0.00931707	0.00210	T	.	.	.	0.266	0.57999	.	.	0.147330786459	0.14319	0.3750624688550842	0.37420	0.156418775729	0.17651	0.336470723152	0.15909	T	0.439289	0.78463	T	-0.350134	0.04718	T	-0.256795	0.49144	T	0.0132996338947798	0.00238	T	0.776522	0.40874	T	0.05123657	0.09380	0.08955381	0.20949	0.05123657	0.09380	0.08955381	0.20948	-4.954	0.36336	T	.	.	0.079	0.07460	B	.;.;.;.;.	.;.;.;.;.	3.118524	0.42097	21.5	0.99195457660073694	0.55112	0.83638	0.42742	D	AEFBI	0.184274	0.31160	N	-0.402969708021339	0.25365	1.376381	-0.197852517081355	0.31615	1.790878	0.975626632394486	0.29650	0.706548	0.73137	0	0.610034	0.51514	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.53	3.73	0.41982	2.280000	0.43103	3.427000	0.38290	-0.127000	0.13314	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.2116:0.0:0.7884:0.0	9.817	0.40028	849	0.35778	EGF-like calcium-binding domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding domain|EGF-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	674.98	34	chr2	33280135	.	G	A	674.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.00;DP=750;ExcessHet=0.0000;FS=4.183;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.50;ReadPosRankSum=-2.630e-01;SOR=1.398	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1331	20	0	1	0
chr2	33293242	33293242	C	G	exonic	LTBP1	.	nonsynonymous SNV	LTBP1:NM_000627:exon16:c.C2217G:p.H739Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.098	B	0.029	B	.	.	0.834	N	-0.1	N	-2.16	D	-0.757	T	0.322	T	0.616	1.623	11.38	3.84	2.663	0.506	7.411	0.438	0.0329969010625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	5.975e-05	2.3e-07	9e-08	9.9e-06	3.7e-06	5.975e-05	0	0	0	0	0	0	0	0	6.57e-06	6.567e-06	1.285e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.244	0.17468	T	0.471	0.12211	T	0.098	0.25584	B	0.029	0.21540	B	.	.	.	.	0.899952	0.28724	N	0.815	0.20815	L	-2.17	0.86624	D	-2.05	0.47008	N	0.428	0.55280	-0.7572	0.57556	T	0.322	0.69125	T	9	0.24368098	0.41586	T	0.032997	0.54670	D	0.438	0.74235	0.398	0.42590	0.738716796048	0.73637	0.43872323451413436	0.43789	0.136235181936	0.15368	0.470541238785	0.34754	T	0.263213	0.63487	T	0.0533388	0.58771	T	-0.161159	0.58247	T	0.12536883354187	0.14948	T	0.842016	0.53849	T	0.11105671	0.26245	0.118778594	0.28671	0.11105671	0.26245	0.118778594	0.28670	-4.289	0.31550	T	.	.	0.160	0.35435	B	.;.;.;.;.	.;.;.;.;.	2.800733	0.36843	20.3	0.93504220096171986	0.23312	0.35171	0.25240	N	AEFDBHCIJ	0.146898	0.27045	N	-0.480965365614023	0.22705	1.214251	-0.294243856944924	0.28288	1.576175	0.999999507315215	0.74766	0.50712	0.20391	0	0.627178	0.54094	0	0.662677	0.59975	0	0.635259	0.50027	0	.	.	5.66	3.84	0.43422	0.330000	0.19460	2.248000	0.31665	0.599000	0.40250	0.058000	0.21700	0.999000	0.35428	0.131000	0.19607	0.0:0.7749:0.0:0.2251	7.411	0.26192	854	0.34840	Complement Clr-like EGF domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;Complement Clr-like EGF domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;Complement Clr-like EGF domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1454.98	33	chr2	33293242	.	C	G	1454.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.250e-01;DP=826;ExcessHet=0.0000;FS=2.234;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=-3.120e-01;SOR=0.512	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1422	20	0	1	0
chr2	33309518	33309518	C	T	exonic	LTBP1	.	nonsynonymous SNV	LTBP1:NM_000627:exon19:c.C2588T:p.P863L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.237	B	0.121	B	.	.	1.000	D	2.18	M	-2.45	D	-0.380	T	0.397	T	0.5	1.972	12.55	5.93	2.805	3.175	19.108	0.324	0.0694750036677	.	0.000199681	0.0002	9.61e-05	0	0.0003	0	5.993e-05	0	0.0008	0.0001423	22	154602	rs559471279	5.557e-05	5.609e-05	5.46e-05	5.656e-05	0.0006	4.557e-05	4.168e-05	0.0005	0.0004	6.035e-05	0	0	0.0002	0	0	1.081e-05	0.0001	0.0006	5.917e-05	5.908e-05	1.286e-05	0.0001	0.0006	3.079e-05	2.211e-05	0.0002	9.033e-05	9.638e-05	0	0	0	0.0004	0	0	0	0	0.0006	0.021	0.49117	D	0.068	0.51737	T	0.123	0.30795	B	0.077	0.32300	B	.	.	.	.	0.999993	0.58761	D	1.895	0.50365	L	-2.45	0.88847	D	-6.36	0.91912	D	0.2	0.29889	-0.3795	0.72666	T	0.397	0.74959	T	9	0.11012104	0.20569	T	0.069475	0.70738	D	0.367	0.68670	.	.	0.412688821616	0.40882	0.7357619140173515	0.73521	0.221423035678	0.24682	0.427258133888	0.28834	T	0.723768	0.92213	D	-0.172463	0.24862	T	-0.0893304	0.64212	T	0.104920141480692	0.12889	T	0.907809	0.67374	D	0.26631406	0.49702	0.3249755	0.58417	0.26631406	0.49701	0.3249755	0.58416	-8.617	0.65202	D	.	.	0.143	0.51712	B	.;.;.;.;.;.	.;.;.;.;.;.	3.754118	0.53828	23.4	0.98297827030894491	0.40011	0.90018	0.50874	D	AEFBI	0.315906	0.42035	N	0.22508512195845	0.52418	3.416017	0.222086884659178	0.51075	3.293231	0.999954695241278	0.48110	0.732398	0.92422	0	0.610034	0.51514	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.93	5.93	0.95888	2.363000	0.43831	4.887000	0.45725	0.599000	0.40250	0.978000	0.35038	1.000000	0.68203	0.137000	0.19835	0.0:1.0:0.0:0.0	19.108	0.93289	854	0.34840	EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;.;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	977.98	81	chr2	33309518	.	C	T	977.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.83;DP=788;ExcessHet=0.0000;FS=1.832;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=-2.270e-01;SOR=0.984	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1108	20	0	1	0
chr2	33347499	33347499	G	A	exonic	LTBP1	.	nonsynonymous SNV	LTBP1:NM_001166264:exon21:c.G2885A:p.R962Q	.	YES	430	1028	59	5	0	69	0.0324706	.	.	719865	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.35	T	0.993	D	0.825	P	.	.	0.992	D	1.385	L	-1.33	T	-0.299	T	0.443	T	0.41	2.992	15.98	3.32	0.605	-0.232	5.496	0.329	.	0.0048	0.00239617	0.0046	0.0010	0.0027	0	0.0011	0.0059	0.0110	0.0064	0.0044113	682	154602	rs141080282	0.0046	0.0046	0.0045	0.0048	0.0326	0.0045	0.0045	0.0288	0.0273	0.0015	0.0041	0.0065	2.519e-05	0.0008	0.0326	0.0047	0.0060	0.0062	0.0044	0.0044	0.0046	0.0042	0.0083	0.0041	0.0040	0.0071	0.0067	0.0009	0	0.0083	0.0069	0	0.0008	0.0272	0.0061	0.0095	0.0056	0.007	0.61437	D	0.089	0.46862	T	0.937	0.65571	P	0.361	0.59331	B	.	.	.	.	0.986415	0.41471	D	0.84	0.21119	L	-1.45	0.81559	T	-1.77	0.53577	N	0.17	0.23506	-0.2989	0.75015	T	0.443	0.78020	T	9	0.0047613382	0.00101	T	.	.	.	0.329	0.65126	.	.	0.20808081866	0.20439	0.5008590233587867	0.50007	0.166082223785	0.18743	0.329884946346	0.14917	T	0.154079	0.49521	T	-0.302344	0.08439	T	-0.203068	0.54355	T	0.0117555559307881	0.00181	T	0.90461	0.67274	D	0.0548804	0.10592	0.079973504	0.18051	0.0548804	0.10591	0.079973504	0.18050	-3.652	0.18715	T	.	.	0.084	0.12750	B	.;.;.;.;.;.	.;.;.;.;.;.	3.092193	0.41643	21.4	0.9962135397256433	0.75413	0.58970	0.30787	D	AEFBI	0.116140	0.22806	N	-0.261098715989665	0.30663	1.711816	-0.257002608460044	0.29531	1.655216	0.968231963240508	0.29037	0.706548	0.73137	0	0.588015	0.36545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.19	3.32	0.37134	1.551000	0.35841	7.375000	0.58420	-0.126000	0.13398	0.354000	0.25792	1.000000	0.68203	0.290000	0.24260	0.0741:0.1778:0.6105:0.1376	5.496	0.16096	850	0.35610	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	800.98	38	chr2	33347499	.	G	A	800.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.510;DP=804;ExcessHet=0.0000;FS=0.881;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.27;ReadPosRankSum=-2.070e-01;SOR=0.830	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1363	20	0	1	0
chr2	33365342	33365342	A	T	exonic	LTBP1	.	nonsynonymous SNV	LTBP1:NM_001166264:exon26:c.A3446T:p.E1149V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	.	.	1.000	D	1.735	L	-1.43	T	0.506	D	0.704	D	0.846	2.825	15.41	5.67	2.164	2.931	15.920	0.615	0.126583646381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.48186	D	0.044	0.53426	D	1.0	0.90584	D	0.994	0.92359	D	.	.	.	.	0.999994	0.58761	D	1.465	0.36909	L	-1.56	0.81815	D	-4.23	0.77308	D	0.703	0.74007	0.506	0.90636	D	0.704	0.89819	D	9	0.7521808	0.75718	D	0.126584	0.80827	D	0.615	0.84986	0.395	0.42099	0.674314398338	0.67155	0.6959807142721597	0.69539	0.619672692419	0.56308	0.564980745316	0.47969	T	0.544287	0.84452	D	0.281644	0.81455	D	0.166786	0.81217	D	0.973705232143402	0.70205	D	0.941406	0.78138	D	0.2734868	0.50416	0.2426337	0.49689	0.2734868	0.50416	0.2426337	0.49688	-8.778	0.67588	D	.	.	0.366	0.60415	A	.;.;.;.;.	.;.;.;.;.	4.069528	0.60449	24.2	0.99240916832346915	0.56533	0.95439	0.64725	D	AEFBI	0.544881	0.55962	D	0.470749118630667	0.65389	4.816446	0.41978380614854	0.62799	4.501513	0.999999999719222	0.74766	0.706548	0.73137	0	0.563428	0.19063	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.67	5.67	0.87673	2.943000	0.48719	9.351000	0.80297	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.190000	0.21601	1.0:0.0:0.0:0.0	15.920	0.79349	844	0.36711	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1241.98	33	chr2	33365342	.	A	T	1241.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.663e+00;DP=812;ExcessHet=0.0000;FS=0.698;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.80;ReadPosRankSum=-3.100e-02;SOR=0.813	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1254	20	0	1	0
chr2	33515141	33515141	G	A	exonic	RASGRP3	.	nonsynonymous SNV	RASGRP3:NM_015376:exon2:c.G5A:p.G2E	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.714	P	0.194	B	0.002	N	1.000	D	1.04	L	1.17	T	-0.426	T	0.326	T	0.367	2.408	14.01	4.88	1.439	4.844	14.564	0.090	0.0406963053028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.34982	T	0.576	0.92824	T	0.714	0.42167	P	0.194	0.36557	B	0.001550	0.38671	N	0.212294	0.999671	0.48205	D	1.335	0.33326	L	-1.45	0.80899	T	-0.74	0.96294	N	0.308	0.36674	-0.4265	0.71180	T	0.326	0.69427	T	10	0.43952185	0.58011	T	0.040696	0.59520	D	0.090	0.26093	0.276	0.22845	0.85024454146	0.84880	0.3378674005269294	0.33699	0.606396656701	0.55488	0.801899433136	0.82253	T	0.210623	0.57116	T	0.0393541	0.56962	T	-0.181247	0.56407	T	0.722990155220032	0.41850	D	0.828817	0.49341	T	0.0990507	0.23370	0.1309471	0.31454	0.0990507	0.23370	0.1309471	0.31454	-3.026	0.10464	T	.	.	0.233	0.60063	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.493628	0.32177	18.96	0.98342421023657201	0.40457	0.95575	0.65269	D	AEFGBI	0.795598	0.72297	D	0.140172099747668	0.48345	3.048118	0.22479715529862	0.51227	3.307075	0.99999464487829	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.75	4.88	0.63131	5.011000	0.63768	6.548000	0.55903	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.648000	0.32638	0.0696:0.0:0.9304:0.0	14.564	0.67753	756	0.51065	Ras-like guanine nucleotide exchange factor, N-terminal;Ras-like guanine nucleotide exchange factor, N-terminal;Ras-like guanine nucleotide exchange factor, N-terminal;.;.;Ras-like guanine nucleotide exchange factor, N-terminal;Ras-like guanine nucleotide exchange factor, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1730.98	33	chr2	33515141	.	G	A	1730.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.530e-01;DP=872;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=2.77;SOR=0.723	GT:AD:DP:GQ:PL	0/1:77,76:153:99:1745,0,1842	20	0	1	0
chr2	33527173	33527173	G	A	exonic	RASGRP3	.	nonsynonymous SNV	RASGRP3:NM_015376:exon9:c.G844A:p.G282S	.	.	437	1038	46	1	0	48	0.0225989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.977	D	0.624	P	0.000	D	1.000	D	0.4	N	1.59	T	-1.131	T	0.056	T	0.438	3.717	18.88	5.74	2.712	7.655	19.940	0.115	.	0.0034	0.00758786	0.0090	0.0005	0.0045	0.0002	0.0091	0.0063	0.0067	0.0328	0.0080982	1252	154602	rs142000180	0.0068	0.0068	0.0057	0.0079	0.0341	0.0067	0.0067	0.0331	0.0327	0.0010	0.0035	0.0079	7.557e-05	0.0100	0.0149	0.0051	0.0064	0.0341	0.0056	0.0056	0.0050	0.0063	0.0317	0.0053	0.0052	0.0276	0.0261	0.0010	0.0197	0.0075	0.0052	0.0006	0.0090	0.0136	0.0058	0.0071	0.0317	0.443	0.09346	T	0.499	0.11371	T	0.977	0.58535	D	0.624	0.51529	P	0.000013	0.62929	D	0.115113	0.999975	0.53665	D	0.425	0.12573	N	1.59	0.28836	T	-1.32	0.32991	N	0.441	0.50146	-1.1311	0.01730	T	0.056	0.23639	T	10	0.012260407	0.00264	T	.	.	.	0.115	0.32236	.	.	0.780878195205	0.77885	0.4263522460405728	0.42552	0.415926434887	0.42235	0.638891577721	0.58407	T	0.243467	0.61240	T	-0.428832	0.01506	T	-0.364389	0.37544	T	0.0262038062900292	0.01433	T	0.932007	0.74652	D	0.15598223	0.35224	0.1770133	0.40274	0.15598223	0.35223	0.1770133	0.40273	-6.348	0.49463	T	.	.	0.133	0.33573	B	.;.;.	.;.;.	5.768798	0.93468	33	0.99802962190873989	0.88728	0.88528	0.48498	D	AEFBCI	0.848698	0.76552	D	0.50070749462653	0.67131	5.041035	0.597081224363905	0.74730	6.186954	0.999994411967859	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.573888	0.23631	0	0.579976	0.35079	0	.	.	5.74	5.74	0.90070	7.764000	0.84130	10.029000	0.83162	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	19.940	0.97160	760	0.50470	Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1536.98	40	chr2	33527173	.	G	A	1536.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.275e+00;DP=818;ExcessHet=0.0000;FS=1.524;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=2.08;SOR=0.524	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1225	20	0	1	0
chr2	33543536	33543536	G	C	exonic	RASGRP3	.	nonsynonymous SNV	RASGRP3:NM_015376:exon12:c.G1300C:p.D434H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	1.995	M	-1.07	T	0.278	D	0.616	D	0.85	4.801	27.1	5.54	2.601	9.776	19.477	0.817	0.0909307281483	.	.	1.019e-05	0	0.0001	0	0	0	0	0	6.5e-06	1	154602	rs773130349	1.374e-06	1.368e-06	0	2.762e-06	4.498e-05	2.3e-07	9e-08	7.46e-06	2.79e-06	0	4.498e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.007	0.69154	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.665	0.42610	L	-1.07	0.76948	T	-4.55	0.78553	D	0.871	0.91852	0.278	0.87196	D	0.616	0.86448	D	10	0.866773	0.85924	D	0.090931	0.75611	D	0.817	0.94123	0.659	0.79689	0.922271135264	0.92148	0.792965221280005	0.79249	0.490409126362	0.47766	0.861566960812	0.91342	D	0.545679	0.84524	D	0.195578	0.73480	D	0.219004	0.84124	D	0.981241822242737	0.73802	D	0.949755	0.81731	D	0.6684043	0.76347	0.65176445	0.79622	0.6684043	0.76348	0.65176445	0.79623	-13.475	0.91236	D	.	.	0.894	0.84937	P	.;.;.	.;.;.	5.182141	0.86891	29.1	0.99617105556314434	0.75172	0.99231	0.93164	D	AEFI	0.938837	0.93860	D	0.86336347420729	0.89855	10.14668	0.849714698663087	0.93001	11.76169	0.999999999523679	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	9.910000	0.98672	11.739000	0.95154	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.477	0.94984	778	0.48011	EF-hand domain|EF-Hand 1, calcium-binding site|EF-hand domain|EF-hand domain|EF-hand domain;EF-hand domain|EF-Hand 1, calcium-binding site|EF-hand domain|EF-hand domain|EF-hand domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1554.98	34	chr2	33543536	.	G	C	1554.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.692;DP=846;ExcessHet=0.0000;FS=1.258;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.03;ReadPosRankSum=-6.730e-01;SOR=0.585	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1206	20	0	1	0
chr2	36517452	36517452	G	A	exonic	CRIM1	.	nonsynonymous SNV	CRIM1:NM_016441:exon12:c.G2116A:p.G706R,	.	.	.	.	.	.	.	.	.	.	.	2679612	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.981	D	0.000	D	1.000	D	2.88	M	-0.74	T	0.307	D	0.603	D	0.892	4.538	24.5	4.68	1.353	9.552	13.357	0.728	0.139512985878	.	.	4.12e-05	0	0	0	0	2.998e-05	0	0.0002	3.88e-05	6	154602	rs778622025	3.215e-05	3.215e-05	2.995e-05	3.438e-05	0.0002	2.478e-05	2.22e-05	2.285e-05	2.022e-05	2.987e-05	2.236e-05	0	0	0	0.0002	3.148e-05	6.623e-05	5.797e-05	4.599e-05	4.596e-05	2.569e-05	6.724e-05	6.544e-05	2.109e-05	1.527e-05	1.972e-05	1.124e-05	0	0	6.544e-05	0	0	0	0	5.879e-05	0.0010	0	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.981	0.75168	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.975	0.85398	M	-0.74	0.73205	T	-6.87	0.93175	D	0.932	0.93723	0.307	0.87671	D	0.603	0.85894	D	10	0.8833516	0.87653	D	0.139513	0.82199	D	0.728	0.90457	0.786	0.90919	0.794601164165	0.79268	0.8488526786576205	0.84847	0.956731851577	0.72846	0.816515088081	0.84493	D	0.358287	0.72487	T	0.232481	0.76953	D	0.298821	0.88143	D	0.93664276599884	0.60580	D	0.945605	0.82846	D	0.76677966	0.81855	0.66142726	0.80160	0.76677966	0.81857	0.66142726	0.80161	-11.884	0.84281	D	.	.	0.649	0.70893	P	.;.	.;.	5.604275	0.92480	32	0.99928357807709978	0.99222	0.96251	0.68232	D	AEFBHCI	0.941804	0.94558	D	0.837352312608743	0.88376	9.555418	0.771754965946132	0.87772	9.338477	0.999999999991586	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.56	4.68	0.58319	9.683000	0.97916	9.839000	0.81912	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.0752:0.0:0.9248:0.0	13.357	0.60073	919	0.19497	VWFC domain|VWFC domain|VWFC domain|VWFC domain;VWFC domain|VWFC domain|VWFC domain|VWFC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2062.98	33	chr2	36517452	.	G	A	2062.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.15;DP=894;ExcessHet=0.0000;FS=2.468;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.26;ReadPosRankSum=-8.600e-02;SOR=0.527	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1203	20	0	1	0
chr2	36597916	36597916	A	C	exonic	FEZ2	.	nonsynonymous SNV	FEZ2:NM_001042548:exon1:c.T227G:p.V76G	.	.	.	.	.	.	.	.	.	.	.	2381119	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.773	P	0.146	B	0.000	D	1.000	D	2.165	M	0.61	T	-0.858	T	0.118	T	0.623	2.960	15.87	3.8	1.611	3.986	10.585	0.246	0.36614029052	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1018345063	5.756e-05	5.883e-05	5.557e-05	5.964e-05	0.0008	4.678e-05	4.303e-05	0.0003	0.0002	0.0005	0.0002	0	0	0	0.0008	4.187e-05	0.0002	0	0.0003	0.0003	0.0003	0.0003	0.0007	0.0002	0.0002	0.0005	0.0005	0.0007	0	0.0003	0	0	0	0	0.0002	0.0005	0	0.026	0.46910	D	0.011	0.64786	D	0.773	0.44016	P	0.146	0.33945	B	0.000030	0.55875	D	0.069773	1	0.81001	D	2.69	0.78713	M	0.61	0.53516	T	-2.85	0.60029	D	0.33	0.37093	-0.8579	0.51413	T	0.118	0.41538	T	10	0.4503225	0.58657	T	0.36614	0.92633	D	0.246	0.55340	0.752	0.88237	0.61403422888	0.61091	0.5743110633764213	0.57360	0.0143745207124	0.01365	0.875767529011	0.93382	D	0.135199	0.46687	T	-0.261065	0.12775	T	-0.19333	0.55277	T	0.270508348941803	0.23769	T	0.626337	0.24237	T	0.43530113	0.63098	0.49611756	0.70861	0.43530113	0.63099	0.49611756	0.70861	-3.085	0.12358	T	.	.	0.154	0.36174	B	.;.	.;.	3.635886	0.51531	23.1	0.95725106337124899	0.27656	0.76941	0.37778	D	ALL	0.574378	0.57719	D	0.0779058885945339	0.45432	2.799942	0.117507316194229	0.45445	2.807498	0.999999999999998	0.74766	0.441713	0.08003	0	0.218748	0.04544	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	3.8	3.8	0.42887	3.539000	0.53359	8.803000	0.78264	0.606000	0.46413	1.000000	0.71638	1.000000	0.68203	0.571000	0.30675	1.0:0.0:0.0:0.0	10.585	0.44465	857	0.34089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	194.98	30	chr2	36597916	.	A	C	194.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=654;ExcessHet=0.0000;FS=1.410;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.27;ReadPosRankSum=-1.000e-01;SOR=1.073	GT:AD:DP:GQ:PL	0/0:25,0:25:75:0,75,646	20	0	1	0
chr2	36597928	36597928	G	C	exonic	FEZ2	.	nonsynonymous SNV	FEZ2:NM_001042548:exon1:c.C215G:p.P72R	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.793	P	0.52	P	0.035	N	1.000	D	1.245	L	0.96	T	-1.066	T	0.103	T	0.36	2.936	15.79	2.93	0.834	1.666	9.070	0.059	.	.	0.00219649	0.0303	0.0114	0	0	0	0	0	0.0492	0.0004981	77	154602	rs564557666	0.0006	0.0007	0.0004	0.0009	0.0105	0.0006	0.0006	0.0098	0.0096	0	0	0	0	0	0	7.352e-05	0.0008	0.0105	0.0004	0.0004	0.0002	0.0005	0.0097	0.0003	0.0003	0.0075	0.0067	2.405e-05	0	0	0	0	0	0	7.354e-05	0.0005	0.0097	0.044	0.41096	D	0.297	0.20551	T	0.785	0.44725	P	0.43	0.48197	B	0.035246	0.24668	N	0.303483	0.763364	0.34065	D	1.1	0.28011	L	0.96	0.42888	T	-0.24	0.10833	N	0.262	0.29659	-1.0663	0.10246	T	0.103	0.38044	T	10	0.006874621	0.00156	T	.	.	.	0.059	0.16972	0.525	0.62967	0.550632123912	0.54720	0.2670145881801063	0.26614	0.00969592978935	0.00885	0.863068342209	0.91563	D	0.024	0.18273	T	-0.445337	0.01203	T	-0.404511	0.32860	T	0.112339558159884	0.13665	T	0.809319	0.46506	T	0.1225515	0.28796	0.19009145	0.42392	0.1225515	0.28796	0.19009145	0.42391	-3.593	0.17756	T	.	.	0.08	0.10835	B	.;.	.;.	3.130330	0.42292	21.5	0.99304559399765313	0.58759	0.58192	0.30576	D	ALL	0.221499	0.34612	N	-0.0195770076833504	0.40969	2.442357	-0.0157476527369321	0.39002	2.306103	0.999999999999982	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.8	2.93	0.33092	2.640000	0.46245	11.413000	0.92696	0.541000	0.25215	0.996000	0.39380	1.000000	0.68203	0.871000	0.41478	0.1106:0.0:0.8894:0.0	9.070	0.35645	857	0.34089	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	78.98	30	chr2	36597928	.	G	C	78.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.902;DP=624;ExcessHet=0.0000;FS=2.869;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.27;ReadPosRankSum=-7.830e-01;SOR=1.781	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,545	20	0	1	0
chr2	36598055	36598055	G	A	exonic	FEZ2	.	nonsynonymous SNV	FEZ2:NM_001042548:exon1:c.C88T:p.P30S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.573	P	0.118	B	0.646	N	1.000	D	1.155	L	2.03	T	-1.014	T	0.027	T	0.134	0.902	8.667	1.01	0.269	0.816	5.101	0.031	0.0464423614693	.	.	0.0008	0	0	0	.	0	0	0.0011	5.17e-05	8	154602	rs748827473	4.221e-05	4.036e-05	2.485e-05	6.006e-05	0.0007	3.299e-05	3.012e-05	0.0006	0.0005	0	0	0	0	0	0	0	3.552e-05	0.0007	1.996e-05	1.975e-05	1.3e-05	2.725e-05	0.0006	5.31e-06	2.47e-06	0.0002	9.18e-05	0	0	0	0	0	0	0	0	0	0.0006	0.136	0.26085	T	0.359	0.17014	T	0.073	0.24078	B	0.037	0.23121	B	0.645922	0.10557	N	0.843870	0.628411	0.30720	N	1.155	0.29575	L	2.03	0.20959	T	0.22	0.05125	N	0.128	0.12198	-1.0138	0.25720	T	0.027	0.11751	T	10	0.021428615	0.00512	T	0.046442	0.62461	D	0.031	0.07369	0.278	0.23164	0.325263233342	0.32141	0.4755471872345375	0.47473	0.00995840325899	0.00909	0.828248083591	0.86294	D	0.009035	0.08254	T	-0.409505	0.02003	T	-0.454917	0.27154	T	0.0974937936745057	0.12079	T	0.534647	0.23115	T	0.03655594	0.04519	0.08108778	0.18399	0.03655594	0.04518	0.08108778	0.18399	-3.981	0.24102	T	.	.	0.075	0.05360	B	.;.	.;.	1.952254	0.24794	16.53	0.96713101156701087	0.30818	0.27108	0.23184	N	AEFDBHCI	0.126535	0.24351	N	-0.533891671361959	0.20992	1.110741	-0.466215946999444	0.23090	1.257462	0.999999947174411	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	2.94	1.01	0.19044	0.717000	0.25523	1.041000	0.23557	0.551000	0.28136	1.000000	0.71638	1.000000	0.68203	0.906000	0.44173	0.1243:0.4312:0.4446:0.0	5.101	0.14096	857	0.34089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	59.76	9	chr2	36598055	.	G	A	59.76	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.385;DP=332;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0304;MLEAC=1;MLEAF=0.026;MQ=60.00;MQRankSum=0.00;QD=9.96;ReadPosRankSum=-1.036e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/0:3,0:3:9:0,9,83	18	0	1	2
chr2	36759118	36759118	G	A	exonic	VIT	.	nonsynonymous SNV	VIT:NM_001177972:exon6:c.G559A:p.G187R,	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	B	0.017	B	.	.	1.000	N	.	.	-2.96	D	-0.609	T	0.424	T	0.036	0.134	4.719	0.082	-0.008	0.115	6.441	0.064	.	.	0.00419329	0.0035	0.0178	0.0043	0	0.0006	0.0026	0.0046	0.0003	0.0031565	488	154602	rs61738664	0.0027	0.0027	0.0027	0.0026	0.0167	0.0026	0.0026	0.0156	0.0151	0.0167	0.0029	0.0134	0	0.0004	0.0045	0.0023	0.0031	0.0003	0.0061	0.0061	0.0066	0.0056	0.0166	0.0058	0.0056	0.0156	0.0152	0.0166	0	0.0029	0.0081	0	0.0005	0	0.0022	0.0033	0.0002	0.0	0.91255	D	0.261	0.22962	T	0.179	0.28995	B	0.017	0.18140	B	.	.	.	.	1	0.08975	N	.	.	.	-2.96	0.91956	D	0.55	0.02721	N	0.047	0.01911	-0.6087	0.64458	T	0.424	0.76803	T	7	0.002786398	0.00044	T	.	.	.	0.064	0.18567	0.249	0.18602	0.390220360785	0.38632	.	.	.	.	.	.	.	.	.	.	-0.468775	0.00865	T	-0.431859	0.29724	T	0.00352116173033478	0.00037	T	0.305069	0.05837	T	.	.	.	.	.	.	.	.	-3.586	0.17654	T	.	.	0.079	0.07224	B	.	.	0.634075	0.10023	6.777	0.91349537258002655	0.20612	0.02812	0.07541	N	AEFBI	0.038326	0.05408	N	-1.04401761823623	0.07705	0.3588714	-1.13072845512468	0.07119	0.3450885	0.988321888253336	0.31478	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	3.92	0.082	0.13737	0.021000	0.13381	-0.289000	0.10208	-0.718000	0.03832	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.445:0.0:0.555:0.0	6.441	0.21051	742	0.52873	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1335.98	35	chr2	36759118	.	G	A	1335.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.349;DP=812;ExcessHet=0.0000;FS=1.726;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.52;ReadPosRankSum=0.650;SOR=0.484	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1106	20	0	1	0
chr2	36899646	36899646	T	A	exonic	STRN	.	nonsynonymous SNV	STRN:NM_003162:exon6:c.A672T:p.L224F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.933	P	0.397	B	0.006	N	1.000	D	1.355	L	-0.16	T	-0.841	T	0.171	T	0.324	0.722	7.840	4.73	1.054	1.787	6.318	0.124	0.0367895490537	.	.	1.147e-05	0	0	0	0	0	0	7.712e-05	6.5e-06	1	154602	rs764863602	1.373e-06	1.368e-06	1.366e-06	1.381e-06	2.343e-05	2.3e-07	9e-08	3.89e-06	1.46e-06	0	0	0	0	0	0	0	0	2.343e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	0.12428	T	0.119	0.38160	T	0.823	0.52105	P	0.257	0.44399	B	0.006474	0.32011	N	0.310784	0.999935	0.51612	D	2.38	0.68558	M	-0.17	0.65563	T	-1.49	0.36385	N	0.488	0.59732	-0.8410	0.52580	T	0.171	0.51165	T	10	0.19471323	0.35294	T	0.03679	0.57211	D	0.124	0.34239	0.156	0.05964	0.310597465726	0.30670	0.048295733956614025	0.04772	0.101156769457	0.11438	0.680627346039	0.64358	T	0.054795	0.29825	T	-0.103852	0.35785	T	-0.284009	0.46392	T	0.620374858379364	0.37221	D	0.89531	0.63576	D	0.07669298	0.17361	0.078079365	0.17454	0.07669298	0.17361	0.078079365	0.17453	-5.349	0.41140	T	.	.	0.114	0.22717	B	.;.	.;.	4.147066	0.62175	24.4	0.92875785402908029	0.22422	0.94545	0.61513	D	AEFBI	0.375166	0.45980	N	0.0763823964008561	0.45364	2.794058	0.0985160993984234	0.44475	2.728501	0.951015502725609	0.27931	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.88	4.73	0.59485	2.981000	0.49019	3.505000	0.38803	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.2882:0.0:0.7118	6.318	0.20409	910	0.22284	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1229.98	91	chr2	36899646	.	T	A	1229.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.676;DP=780;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=0.167;SOR=0.772	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1174	20	0	1	0
chr2	36990652	36990652	G	A	exonic	HEATR5B	.	nonsynonymous SNV	HEATR5B:NM_019024:exon34:c.C5693T:p.P1898L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.81	T	0.044	B	0.03	B	0.000	D	1.000	D	1.5	L	-0.17	T	-0.836	T	0.193	T	0.918	2.836	15.45	5.52	2.612	9.827	19.445	0.404	0.033576986744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.399e-06	1.368e-06	0	2.823e-06	1.826e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.826e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.16958	T	0.246	0.23984	T	0.044	0.21686	B	0.03	0.21741	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.59	0.40313	L	-0.17	0.65563	T	-5.79	0.88065	D	0.866	0.86297	-0.8360	0.52911	T	0.193	0.54652	T	10	0.6144354	0.67626	D	0.033577	0.55080	D	0.404	0.71714	0.447	0.50629	0.618220796974	0.61513	0.48376111353466017	0.48296	0.170914286032	0.19256	0.796208024025	0.81386	T	0.209461	0.56968	T	0.318224	0.84345	D	0.219331	0.84141	D	0.987682282924652	0.78133	D	0.965953	0.87464	D	0.41168737	0.61533	0.4691633	0.69212	0.41168737	0.61534	0.4691633	0.69212	-5.657	0.43309	T	.	.	0.361	0.57286	A	.	.	4.394536	0.67843	25.2	0.92666016277297514	0.22147	0.99270	0.93736	D	AEFGBI	0.867027	0.78666	D	0.100961791171577	0.46506	2.890058	0.30405626131778	0.55778	3.740601	0.99999999981663	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	9.964000	0.99056	9.766000	0.81532	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	19.445	0.94836	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1174.98	34	chr2	36990652	.	G	A	1174.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.012e+00;DP=781;ExcessHet=0.0000;FS=2.799;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=-1.294e+00;SOR=0.446	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1246	20	0	1	0
chr2	37064822	37064822	A	G	exonic	HEATR5B	.	nonsynonymous SNV	HEATR5B:NM_019024:exon10:c.T1502C:p.V501A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.982	D	0.918	D	0.000	D	1.000	D	1.59	L	-0.16	T	-0.466	T	0.344	T	0.87	4.659	25.6	5.47	2.092	9.192	15.562	0.650	0.0377181352404	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1423242233	1.368e-06	1.368e-06	2.723e-06	0	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.982	0.60036	D	0.918	0.65394	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.275	0.64647	M	-0.16	0.65378	T	-3.87	0.72594	D	0.841	0.83678	-0.4663	0.69855	T	0.344	0.70972	T	10	0.81598645	0.80837	D	0.037718	0.57787	D	0.650	0.86786	0.473	0.54859	0.700102871335	0.69750	0.4931977975268489	0.49240	1.36241963825	0.84364	0.788456082344	0.80208	T	0.226551	0.59160	T	0.311109	0.83827	D	0.20911	0.83616	D	0.986833035945892	0.77457	D	0.908009	0.67517	D	0.6239686	0.73976	0.67791003	0.81081	0.6239686	0.73977	0.67791003	0.81082	-12.127	0.85464	D	.	.	0.807	0.77636	P	.	.	4.558837	0.71814	25.7	0.99879045683544798	0.95572	0.99113	0.91417	D	AEFGBI	0.853780	0.77076	D	0.683121288140585	0.78527	6.889575	0.698978534017266	0.82301	7.733224	0.999999994586532	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.47	5.47	0.80345	9.179000	0.93989	11.200000	0.88996	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	1.0:0.0:0.0:0.0	15.562	0.75993	561	0.71236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1029.98	33	chr2	37064822	.	A	G	1029.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.034;DP=773;ExcessHet=0.0000;FS=2.847;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=-1.620e+00;SOR=1.022	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1185	20	0	1	0
chr2	37168035	37168035	C	G	exonic	SULT6B1	.	nonsynonymous SNV	SULT6B1:NM_001367551:exon7:c.G812C:p.S271T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.024	B	0.071	N	1.000	N	-0.105	N	2.82	T	-0.931	T	0.010	T	0.13	-0.801	0.673	0.643	-0.073	-0.226	5.305	0.077	0.0023003772808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.621	0.05293	T	0.86	0.03921	T	0.002	0.09854	B	0.024	0.20255	B	0.071487	0.21470	N	0.511218	0.999969	0.19072	N	0.455	0.12820	N	2.82	0.10871	T	0.14	0.05405	N	0.107	0.15187	-0.9309	0.44006	T	0.010	0.03627	T	10	0.096271664	0.17256	T	0.002	0.04424	T	0.077	0.22490	0.667	0.80502	0.0138822411134	0.00435	0.358120736332806	0.35726	.	.	0.30322226882	0.10883	T	0.051712	0.28958	T	-0.336238	0.05653	T	-0.720759	0.04759	T	0.0608248151838779	0.07298	T	0.615039	0.23503	T	0.0757439	0.17083	0.050856803	0.08067	0.0757439	0.17083	0.050856803	0.08066	-3.28	0.13480	T	.	.	0.077	0.09965	B	.;.	.;.	-0.022392	0.04130	0.982	0.27456404978906401	0.01364	0.39073	0.26131	N	AEFDBHCI	0.057255	0.10651	N	-0.885008602377166	0.11199	0.539131	-0.749685000699447	0.15730	0.8287436	0.997606239698578	0.35808	0.568482	0.32641	0	0.547309	0.14657	0	0.547309	0.15389	0	0.633917	0.49826	0	.	.	4.54	0.643	0.16942	-0.282000	0.08478	-2.998000	0.03154	0.599000	0.40250	0.817000	0.29947	0.000000	0.08366	0.367000	0.26044	0.0:0.3057:0.4149:0.2793	5.305	0.15110	557	0.71576	Sulfotransferase domain;Sulfotransferase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	412.98	33	chr2	37168035	.	C	G	412.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.996;DP=738;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.07;ReadPosRankSum=-7.490e-01;SOR=0.821	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,887	20	0	1	0
chr2	37256660	37256660	A	C	splicing	PRKD3	NM_005813:exon17:c.2413+2T>G	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.676	18.68	5.1	1.921	9.284	14.880	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs757068723	1.966e-05	7.825e-05	2.231e-05	1.69e-05	7.667e-05	1.257e-05	1.013e-05	1.269e-05	6.54e-06	0	5.836e-05	6.238e-05	7.667e-05	2.926e-05	0	1.553e-05	0	5.63e-05	1.512e-05	0.0001	2.897e-05	0	.	0	0	.	.	0	0.0026	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237809	0.77455	D	0.103819	0.77161	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.323181	0.89347	30	0.99022842983791948	0.50613	0.98862	0.87844	D	AEFBCI	.	.	.	1.10328516966927	0.98194	17.64889	0.935147193996344	0.96930	15.34287	0.999999930790337	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.082826	0.02530	0	0.089874	0.02613	0	0.880061	0.54747	5.1	5.1	0.68917	9.312000	0.95349	11.243000	0.90488	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.915000	0.45038	1.0:0.0:0.0:0.0	14.880	0.70160	532	0.73501	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	247.33	75	chr2	37256660	.	A	C	247.33	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-1.233e+00;DP=1462;ExcessHet=0.0000;FS=2.329;InbreedingCoeff=-0.1053;MLEAC=1;MLEAF=0.031;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=3.24;SOR=1.058	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,102,1139	15	0	1	5
chr2	38070921	38070921	A	G	exonic	CYP1B1	.	nonsynonymous SNV	CYP1B1:NM_000104:exon3:c.T1433C:p.M478T,	Anterior segment dysgenesis 6, multiple subtypes;Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.002	B	0.029	B	0.013	N	0.547	N	1.49	L	-0.55	T	-0.806	T	0.219	T	0.15	0.817	8.286	2.19	0.131	4.134	8.943	0.073	0.00827924104834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.24840	T	.	.	.	.	.	.	0.012942	0.29001	N	0.421294	0.546761	0.31368	N	1.725	0.44537	L	.	.	.	.	.	.	0.092	0.08786	-0.8056	0.54813	T	0.219	0.58227	T	10	0.11064458	0.20689	T	0.008279	0.21928	T	.	.	.	.	0.306053231325	0.30222	0.7853405575445672	0.78485	.	.	0.460129648447	0.33328	T	0.216982	0.57930	T	-0.132633	0.31072	T	-0.428294	0.30129	T	0.236900717020035	0.22276	T	0.156384	0.27420	T	0.14393404	0.33059	0.2122428	0.45685	0.14393404	0.33059	0.2122428	0.45684	-7.38	0.56764	T	.	.	0.336	0.55658	B	.;.;.	.;.;.	1.988831	0.25265	16.70	0.76500165312934842	0.11493	0.90454	0.51643	D	AEFDGBCI	0.742165	0.68587	D	-0.305826891475538	0.28926	1.599638	-0.175937045579868	0.32424	1.844531	0.999998563789525	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.687403	0.62504	0	0.530356	0.10902	0	.	.	5.95	2.19	0.26890	4.411000	0.59536	2.640000	0.33748	0.756000	0.94297	0.996000	0.39380	0.002000	0.18203	0.974000	0.55675	0.7804:0.0:0.2196:0.0	8.943	0.34900	913	0.21160	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1792.98	33	chr2	38070921	.	A	G	1792.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.075e+00;DP=895;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=0.186;SOR=0.690	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1300	20	0	1	0
chr2	38071251	38071251	C	T	exonic	CYP1B1	.	nonsynonymous SNV	CYP1B1:NM_000104:exon3:c.G1103A:p.R368H,	Anterior segment dysgenesis 6, multiple subtypes;Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, Autosomal recessive	YES	0	1399	110	13	0	136	0.0463531	.	.	22778	not_provided|Irido-corneo-trabecular_dysgenesis|Glaucoma_3A|not_specified|Congenital_ocular_coloboma|Congenital_glaucoma|Myopathy,_centronuclear,_5|Anterior_segment_dysgenesis_6|CYP1B1-related_disorder|Glaucoma,_early-onset,_digenic	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708|MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194|MONDO:MONDO:0020366,MedGen:C0020302|MONDO:MONDO:0014418,MedGen:C4014814,OMIM:615959,Orphanet:169186|MONDO:MONDO:0015016,MedGen:C4310623,OMIM:617315|MedGen:CN239260|MedGen:C4016760	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.978	D	0.000	D	1.000	A	2.695	M	-0.56	T	0.251	D	0.577	D	0.897	4.585	24.9	5.65	2.657	7.675	17.194	0.751	.	0.0016	0.00419329	0.0062	0.0004	0.0033	0	0	0.0029	0.0138	0.0294	0.0050646	783	154602	rs79204362	0.0032	0.0032	0.0022	0.0043	0.0311	0.0032	0.0031	0.0302	0.0298	0.0005	0.0021	0.0205	5.038e-05	7.643e-05	0.0236	0.0009	0.0041	0.0311	0.0020	0.0020	0.0016	0.0025	0.0245	0.0018	0.0018	0.0209	0.0195	0.0005	0	0.0012	0.0179	0	0	0.0205	0.0011	0.0047	0.0245	.	.	.	0.01	0.65728	D	.	.	.	.	.	.	0.000000	0.84330	D	0.050909	0.999999	0.58761	A	3.06	0.86941	M	.	.	.	.	.	.	0.819	0.85132	0.251	0.86759	D	0.577	0.84738	D	9	0.009640098	0.00217	T	.	.	.	.	.	.	.	0.341696514166	0.33777	0.8175150785253305	0.81708	.	.	0.417915016413	0.27551	T	0.59259	0.86824	D	0.0961558	0.63873	D	0.388342	0.91724	D	0.0597581842735867	0.07131	T	0.933807	0.75196	D	0.90570295	0.91898	0.68082505	0.81245	0.8872861	0.90276	0.8142974	0.89175	-9.232	0.69178	D	.	.	0.200	0.42404	B	.;.	.;.	5.330663	0.89461	30	0.99942312783438658	0.99824	0.96543	0.69666	D	AEFDGBCI	0.942825	0.94789	D	0.728153233663213	0.81478	7.531585	0.629670928743175	0.77105	6.615648	1.0	0.98316	0.542737	0.22433	0	0.685571	0.66316	0	0.401104	0.06395	2	0.530356	0.10902	0	.	.	5.65	5.65	0.86881	7.798000	0.84489	7.710000	0.66754	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:1.0:0.0:0.0	17.194	0.86768	914	0.21048	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	6219.11	34	chr2	38071251	.	C	T	6219.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.37;DP=1312;ExcessHet=0.1072;FS=1.103;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=1.33;SOR=0.599	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,101,1530	19	0	2	0
chr2	38074704	38074704	C	T	exonic	CYP1B1	.	nonsynonymous SNV	CYP1B1:NM_000104:exon2:c.G685A:p.E229K,	Anterior segment dysgenesis 6, multiple subtypes;Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, Autosomal recessive	.	0	1411	106	5	0	116	0.0394826	.	.	79359	Congenital_glaucoma|Congenital_ocular_coloboma|not_specified|not_provided|Glaucoma_3A|Irido-corneo-trabecular_dysgenesis	MONDO:MONDO:0020366,MedGen:C0020302|Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977|Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign|other	.	.	.	.	.	.	.	.	0	D	0.781	P	0.139	B	0.000	D	1.000	D	1.25	L	-0.32	T	-0.829	T	0.124	T	0.789	4.035	20.7	3.77	1.186	3.709	10.465	0.395	.	0.0037	0.0103834	0.0142	0.0017	0.0025	0	0.0040	0.0098	0.0214	0.0562	0.0107955	1669	154602	rs57865060	0.0085	0.0085	0.0070	0.0101	0.0518	0.0084	0.0083	0.0506	0.0501	0.0010	0.0021	0.0101	5.041e-05	0.0026	0.0206	0.0061	0.0088	0.0518	0.0062	0.0062	0.0055	0.0069	0.0503	0.0059	0.0057	0.0451	0.0431	0.0008	0	0.0034	0.0118	0.0004	0.0023	0.0102	0.0078	0.0076	0.0503	.	.	.	0.123	0.35582	T	.	.	.	.	.	.	0.000014	0.62929	D	0.111194	0.999619	0.47849	D	1.57	0.39626	L	.	.	.	.	.	.	0.697	0.70351	-0.8290	0.53365	T	0.124	0.42841	T	10	0.004917532	0.00105	T	.	.	.	.	.	.	.	.	.	0.5846823461645314	0.58398	.	.	0.597627282143	0.52569	T	0.457736	0.79599	T	-0.163042	0.26294	T	0.029531	0.72247	D	0.026333973035908	0.01451	T	0.933007	0.74900	D	0.62011653	0.73769	0.7128727	0.83058	0.72305995	0.79334	0.68006516	0.81203	-9.726	0.72255	D	.	.	0.244	0.53261	B	.;.	.;.	3.594627	0.50741	23.0	0.99863475441628191	0.94184	0.79813	0.39624	D	AEFDGBHCI	0.475083	0.51907	N	0.142951330129671	0.48478	3.059665	0.201290397305074	0.49920	3.189551	0.999999999999926	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.65	3.77	0.42499	2.673000	0.46524	3.320000	0.37537	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.9053:0.0:0.0947	10.465	0.43786	922	0.19044	.;.	EIF2AK2	Cells_Cultured_fibroblasts	.	.	rs57865060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3840.11	33	chr2	38074704	.	C	T	3840.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.83;DP=1009;ExcessHet=0.1072;FS=0.821;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.03;ReadPosRankSum=0.723;SOR=0.633	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1160	19	0	2	0
chr2	38818933	38818933	C	T	exonic	DHX57	.	nonsynonymous SNV	DHX57:NM_001329963:exon19:c.G3109A:p.V1037M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.021	B	0.018	B	0.380	N	1.000	N	0	N	4.19	T	-0.920	T	0.005	T	0.283	0.737	7.913	-3.26	-1.007	-1.235	2.595	0.019	0.00421433830098	.	.	8.241e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs200962138	2.668e-05	2.668e-05	2.722e-05	2.613e-05	5.038e-05	1.997e-05	1.754e-05	2.285e-05	2.022e-05	0	0	0	5.038e-05	0	0	3.147e-05	3.311e-05	0	1.314e-05	1.313e-05	0	2.689e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.469e-05	0	0	0.242	0.17584	T	0.217	0.29056	T	0.003	0.11197	B	0.003	0.08700	B	0.379510	0.04411	N	1.415460	1	0.08975	N	0	0.06538	N	.	.	.	0.43	0.03297	N	0.164	0.17278	-0.9198	0.45581	T	0.005	0.01725	T	10	0.046262175	0.03796	T	0.004214	0.10153	T	0.019	0.03383	0.344	0.33788	0.143124449307	0.13826	0.31547586374200376	0.31460	.	.	0.272951900959	0.06528	T	0.016957	0.13915	T	-0.324251	0.06556	T	-0.534412	0.18848	T	0.0292338671763828	0.01873	T	0.485151	0.14792	T	0.021218158	0.00713	0.045676295	0.06200	0.021218158	0.00713	0.045676295	0.06200	-3.285	0.13545	T	.	.	0.074	0.04889	B	.;.	.;.	-0.480736	0.01930	0.163	0.87858838100913472	0.17535	0.05581	0.11482	N	AEFBHCI	0.033898	0.04106	N	-1.40210274990476	0.02620	0.1159674	-1.38781915085254	0.03381	0.1575926	0.458409384781818	0.20602	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.07	-3.26	0.04750	-1.244000	0.03013	-2.192000	0.04078	-1.776000	0.00658	0.000000	0.06391	0.000000	0.08366	0.840000	0.39645	0.1852:0.196:0.0922:0.5267	2.595	0.04557	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1378.98	35	chr2	38818933	.	C	T	1378.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.886;DP=806;ExcessHet=0.0000;FS=0.696;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=-2.620e-01;SOR=0.808	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1324	20	0	1	0
chr2	38931156	38931156	C	G	exonic	ARHGEF33	.	nonsynonymous SNV	ARHGEF33:NM_001145451:exon7:c.C410G:p.A137G	.	.	433	1070	18	1	0	20	0.00925926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.079	B	0.007	B	0.914	U	1.000	N	0	N	0.86	T	-1.083	T	0.047	T	0.165	1.589	11.27	4.78	2.654	1.358	6.345	0.065	0.00493584759959	0.0044	0.00279553	0.0062	0.0028	0.0024	0	0.0025	0.0051	0.0042	0.0097	0.0018176	281	154602	rs199921991	0.0067	0.0064	0.0064	0.0069	0.0098	0.0066	0.0065	0.0093	0.0090	0.0010	0.0019	0.0017	0	0.0031	0.0060	0.0073	0.0061	0.0098	0.0044	0.0044	0.0044	0.0043	0.0087	0.0041	0.0040	0.0066	0.0063	0.0011	0	0.0032	0.0017	0.0002	0.0031	0.0136	0.0070	0.0047	0.0087	0.035	0.43708	D	0.122	0.35710	T	.	.	.	.	.	.	0.913594	0.07431	U	1.052340	1	0.08975	N	0.345	0.11182	N	0.86	0.46777	T	-0.83	0.22727	N	0.095	0.13769	-1.0834	0.06702	T	0.047	0.20116	T	10	0.0042744577	0.00086	T	0.004936	0.12411	T	0.065	0.18881	.	.	0.0884992946249	0.08302	0.29298477614894286	0.29211	.	.	0.408736348152	0.26282	T	.	.	.	-0.550632	0.00289	T	-0.552045	0.17130	T	0.00857455049892436	0.00105	T	0.775222	0.40690	T	.	.	.	.	.	.	.	.	-3.601	0.17871	T	.	.	0.089	0.12276	B	.;.	.;.	1.962825	0.24933	16.58	0.98561748407481908	0.42986	0.08240	0.14194	N	AEFI	0.094228	0.19055	N	-0.624829131922255	0.18200	0.943026	-0.522077609026466	0.21554	1.166563	0.594906135044483	0.21677	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.66	4.78	0.60666	1.387000	0.34037	3.918000	0.40452	0.594000	0.32500	0.012000	0.18695	0.835000	0.27248	0.942000	0.48361	0.0:0.8082:0.0:0.1918	6.345	0.20548	636	0.64483	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	934.98	33	chr2	38931156	.	C	G	934.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.00;DP=779;ExcessHet=0.0000;FS=1.735;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=-1.618e+00;SOR=0.895	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1133	20	0	1	0
chr2	38959867	38959867	G	C	exonic	ARHGEF33	.	nonsynonymous SNV	ARHGEF33:NM_001145451:exon16:c.G1562C:p.S521T	.	.	419	1087	15	1	0	17	0.00775901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.0	B	0.001	B	.	.	0.999	N	0.345	N	0.79	T	-1.058	T	0.062	T	0.079	1.815	12.03	4.18	2.389	1.676	14.663	0.056	.	0.0092	0.00259585	0.0077	0.0037	0.0104	0	0.0029	0.0135	0.0043	0.0035	0.0023286	360	154602	rs201925961	0.0097	0.0093	0.0097	0.0096	0.0127	0.0095	0.0095	0.0104	0.0102	0.0024	0.0096	0.0248	0	0.0068	0.0127	0.0105	0.0101	0.0027	0.0077	0.0077	0.0083	0.0071	0.0110	0.0074	0.0072	0.0104	0.0101	0.0037	0	0.0068	0.0248	0	0.0042	0.0136	0.0110	0.0095	0.0033	0.281	0.15458	T	0.769	0.04492	T	.	.	.	.	.	.	.	.	.	.	0.99891	0.21810	N	0.695	0.17993	N	0.79	0.49068	T	-0.03	0.07444	N	0.065	0.06454	-1.0578	0.12311	T	0.062	0.25887	T	9	0.0036280155	0.00066	T	.	.	.	0.056	0.15993	.	.	0.124217242631	0.12060	0.3194243498274613	0.31855	.	.	0.438303112984	0.30345	T	.	.	.	-0.614037	0.00120	T	-0.643122	0.09443	T	0.00991943828818208	0.00132	T	0.534647	0.17878	T	.	.	.	.	.	.	.	.	-3.569	0.17410	T	.	.	0.078	0.06896	B	.;.	.;.	2.471970	0.31864	18.87	0.98122794707842576	0.38448	0.81894	0.41209	D	AEFDBCI	0.292932	0.40368	N	-0.252721942049127	0.30994	1.733645	-0.0638757124785495	0.36897	2.153146	0.999977932084475	0.50053	0.582742	0.33608	0	0.541168	0.11318	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	5.12	4.18	0.48473	1.738000	0.37831	6.223000	0.55146	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.24:0.76:0.0	14.663	0.68495	544	0.72685	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2307.98	36	chr2	38959867	.	G	C	2307.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.855e+00;DP=977;ExcessHet=0.0000;FS=1.564;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.66;ReadPosRankSum=-8.130e-01;SOR=0.807	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1245	20	0	1	0
chr2	39013966	39013966	G	A	exonic	SOS1	.	nonsynonymous SNV	SOS1:NM_001382394:exon12:c.C1943T:p.P648L	Noonan syndrome 4, Autosomal dominant	.	4	1509	9	0	0	9	0.00297324	.	.	49162	not_provided|Noonan_syndrome_4|Arrhythmogenic_right_ventricular_cardiomyopathy|RASopathy|Noonan_syndrome_and_Noonan-related_syndrome|Cardiovascular_phenotype|not_specified	MedGen:C3661900|MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733,Orphanet:648|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|MedGen:CN230736|MedGen:CN169374	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.45	T	0.066	B	0.065	B	0.000	D	1.000	D	0.315	N	0.84	T	-1.067	T	0.069	T	0.352	1.599	11.30	5.82	2.739	5.483	20.088	0.091	.	0.0072	0.00319489	0.0079	0.0020	0.0026	0	0.0116	0.0122	0.0045	0.0009	0.0079624	1231	154602	rs56219475	0.0086	0.0088	0.0088	0.0084	0.0100	0.0085	0.0084	0.0098	0.0098	0.0023	0.0042	0.0039	0	0.0118	0.0024	0.0100	0.0065	0.0008	0.0076	0.0076	0.0076	0.0077	0.0106	0.0073	0.0071	0.0100	0.0097	0.0027	0.0921	0.0047	0.0026	0.0002	0.0133	0.0068	0.0106	0.0062	0.0010	0.306	0.14207	T	0.474	0.12176	T	0.066	0.23586	B	0.065	0.27321	B	0.000000	0.84330	D	0.053759	1	0.81001	D	1.625	0.41611	L	0.84	0.47477	T	-1.72	0.43334	N	0.285	0.35301	-1.0668	0.10131	T	0.069	0.28180	T	10	0.004600644	0.00096	T	.	.	.	0.091	0.26358	.	.	0.321115633427	0.31720	0.7586861281863523	0.75816	0.590709700161	0.54520	0.696015894413	0.66570	T	0.364182	0.72981	T	-0.42967	0.01489	T	-0.379579	0.35771	T	0.0207539444130001	0.00775	T	0.937406	0.77758	D	0.34130466	0.56383	0.5245448	0.72531	0.5632274	0.70689	0.37334678	0.62523	-9.934	0.73516	D	0.24915139853954799	0.33731	0.165	0.38227	B	.;.;.	.;.;.	4.032135	0.59633	24.1	0.79003705997531048	0.12547	0.94036	0.59919	D	AEFBHCI	0.680681	0.64429	D	-0.0255314630927147	0.40703	2.421688	0.212698289030249	0.50550	3.246002	0.99999983189198	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.65145	0.50148	0	0.613276	0.41899	0	.	.	5.82	5.82	0.92740	5.443000	0.66330	11.861000	0.98322	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.088	0.97802	470	0.78111	Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal;Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal;Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	971.98	33	chr2	39013966	.	G	A	971.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.318;DP=764;ExcessHet=0.0000;FS=3.139;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=-3.160e-01;SOR=1.135	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,916	20	0	1	0
chr2	39288150	39288150	C	T	exonic	MAP4K3	.	nonsynonymous SNV	MAP4K3:NM_001270425:exon19:c.G1382A:p.R461K	.	.	.	.	.	.	.	.	.	.	.	2428704	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.97	T	0.001	B	0.002	B	0.000	D	1.000	D	0.115	N	2.6	T	-1.045	T	0.021	T	0.442	1.804	11.99	5.75	2.717	5.845	19.946	0.138	0.00886300102275	.	.	8.237e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs754862131	2.121e-05	2.121e-05	1.906e-05	2.338e-05	0.0002	1.52e-05	1.324e-05	2.985e-05	1.804e-05	2.987e-05	8.944e-05	0	0	0	0.0002	2.158e-05	1.656e-05	0	1.973e-05	1.97e-05	1.285e-05	2.692e-05	2.941e-05	5.24e-06	2.46e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0.0005	0	0.99	0.01967	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.06944	B	0.000092	0.51296	D	0.169427	0.999901	0.53665	D	0.375	0.12094	N	2.6	0.13204	T	0.17	0.05125	N	0.339	0.40164	-1.0451	0.15796	T	0.021	0.08732	T	10	0.121046364	0.22939	T	0.008863	0.23366	T	0.138	0.37187	.	.	0.334371577756	0.33041	0.12982448568697894	0.12907	0.0682535782543	0.07644	0.652739882469	0.60375	T	0.095668	0.39667	T	-0.294614	0.09177	T	-0.463997	0.26165	T	0.14367912709713	0.16588	T	0.893211	0.63049	D	0.1270388	0.29739	0.15250018	0.35876	0.1270388	0.29739	0.15250018	0.35875	-1.699	0.03528	T	.	.	0.116	0.26917	B	.;.;.	.;.;.	3.098467	0.41745	21.4	0.86035488387380099	0.16271	0.95745	0.65973	D	AEFBI	0.756224	0.69555	D	-0.211063331096681	0.32679	1.845606	0.060878732185534	0.42601	2.579542	0.999999975000407	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.75	5.75	0.90390	4.402000	0.59482	7.663000	0.64347	0.452000	0.21348	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	19.946	0.97184	416	0.81733	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	972.98	33	chr2	39288150	.	C	T	972.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.92;DP=753;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.44;ReadPosRankSum=2.59;SOR=0.741	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1105	20	0	1	0
chr2	40177826	40177826	C	T	exonic	SLC8A1	.	nonsynonymous SNV	SLC8A1:NM_001252624:exon2:c.G1838A:p.R613H	.	.	424	1091	6	0	1	7	0.00274223	.	.	2815708	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.839	P	0.309	B	.	.	1.000	N	0.805	L	1.69	T	-1.086	T	0.032	T	0.133	2.134	13.09	3.52	1.178	1.537	9.660	0.026	0.00594189882963	0.0061	0.00199681	0.0036	0.0037	0	0.0013	0.0025	0.0053	0	0.0024	0.0013325	206	154602	rs5556	0.0054	0.0052	0.0055	0.0053	0.0062	0.0053	0.0053	0.0060	0.0060	0.0034	0.0032	0.0028	0	0.0033	0.0004	0.0062	0.0046	0.0024	0.0046	0.0046	0.0051	0.0040	0.0063	0.0043	0.0042	0.0058	0.0056	0.0035	0	0.0042	0.0055	0	0.0027	0	0.0063	0.0043	0.0008	0.052	0.39334	T	0.034	0.53788	D	0.312	0.46454	B	0.025	0.41361	B	.	.	.	.	1	0.81001	D	.	.	.	1.69	0.27032	T	0.7	0.02163	N	0.186	0.20395	-1.0857	0.06281	T	0.032	0.13723	T	9	0.00810191	0.00184	T	0.005942	0.15490	T	0.026	0.05648	.	.	0.378186627593	0.37434	.	.	.	.	.	.	.	.	.	.	-0.582008	0.00187	T	-0.605065	0.12388	T	0.0194907845740846	0.00653	T	0.90471	0.66491	D	.	.	.	.	.	.	.	.	-3.834	0.26155	T	.	.	0.323	0.54747	B	.;.;.;.;.	.;.;.;.;.	2.689687	0.35109	19.81	0.98404990060944253	0.41105	0.76312	0.37417	D	AEFBI	0.439888	0.49867	N	-0.263581673979091	0.30564	1.705464	-0.124599296366069	0.34400	1.978412	0.999196604130914	0.38711	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.42	3.52	0.39415	0.828000	0.27088	4.030000	0.41330	-0.313000	0.06017	0.998000	0.41325	1.000000	0.68203	0.997000	0.79791	0.0:0.8141:0.0:0.1859	9.660	0.39114	896	0.25515	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1263.98	40	chr2	40177826	.	C	T	1263.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=903;ExcessHet=0.0000;FS=1.523;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-4.550e-01;SOR=0.523	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr2	42256546	42256546	A	G	exonic	EML4	.	nonsynonymous SNV	EML4:NM_001145076:exon3:c.A254G:p.N85S	.	.	437	1072	13	0	0	13	0.00602689	.	.	2335478	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.93	T	0.998	D	0.993	D	0.000	N	1.000	D	1.765	L	1.09	T	0.813	D	0.899	D	0.046	3.872	19.67	4.52	0.991	6.755	11.697	0.281	0.278312769265	0.0002	.	0.0003	0	0.0008	0	0	8.996e-05	0.0011	0.0010	0.0002393	37	154602	rs151065528	0.0001	0.0001	6.535e-05	0.0002	0.0012	0.0001	0.0001	0.0010	0.0009	2.987e-05	0.0007	0	5.041e-05	0	0.0009	3.148e-05	9.937e-05	0.0012	0.0001	0.0001	6.424e-05	0.0001	0.0010	6.507e-05	5.319e-05	0.0004	0.0003	0	0	0.0005	0	0.0002	0	0	2.94e-05	0	0.0010	0.128	0.47320	T	0.081	0.41742	T	0.998	0.73220	D	0.993	0.81110	D	0.000004	0.62929	N	0.134765	0.99653	0.43261	D	2.335	0.66956	M	1.09	0.97606	T	-1.56	0.55983	N	0.635	0.64818	0.813	0.94570	D	0.899	0.96655	D	10	0.1736067	0.32196	T	0.278313	0.90138	D	0.281	0.59861	.	.	0.924304034863	0.92353	0.14367568134189806	0.14290	0.0521985134838	0.05745	0.437377750874	0.30218	T	0.037024	0.24324	T	-0.257796	0.13158	T	-0.193524	0.55259	T	0.103188313279574	0.12704	T	0.885311	0.61048	D	0.14959551	0.34096	0.06579966	0.13387	0.14959551	0.34096	0.06579966	0.13386	-3.12	0.13038	T	.	.	0.079	0.18746	B	.;.;.	.;.;.	4.128916	0.61778	24.4	0.99833580923718113	0.91456	0.97916	0.78101	D	AEFDBI	0.764851	0.70151	D	0.0424981975632923	0.43798	2.665772	0.11627182044584	0.45380	2.802235	0.999942490636605	0.47345	0.75658	0.98901	0	0.658105	0.61773	0	0.709663	0.75317	0	0.656636	0.63459	0	.	.	5.68	4.52	0.54797	6.786000	0.74875	8.045000	0.76331	-0.065000	0.16512	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.9307:0.0:0.0693:0.0	11.697	0.50812	891	0.26808	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1252.98	34	chr2	42256546	.	A	G	1252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.670e+00;DP=779;ExcessHet=0.0000;FS=1.652;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.79;ReadPosRankSum=-8.430e-01;SOR=0.506	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1027	20	0	1	0
chr2	42280953	42280953	G	C	exonic	EML4	.	nonsynonymous SNV	EML4:NM_001145076:exon6:c.G597C:p.E199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.999	D	0.997	D	0.000	D	1.000	D	1.12	L	1.48	T	-1.050	T	0.110	T	0.716	4.355	22.9	5.24	2.580	2.410	7.144	0.162	0.0100472322683	.	.	1.662e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs769357468	7.559e-06	7.525e-06	5.471e-06	9.668e-06	0.0002	4.06e-06	2.97e-06	0.0001	9.529e-05	0	0.0002	0	0	0	0.0002	0	0	0	6.577e-06	6.569e-06	0	1.347e-05	6.554e-05	0	0	.	.	0	0	6.554e-05	0	0	0	0	0	0	0	0.021	0.50676	D	0.107	0.40110	T	0.999	0.77913	D	0.997	0.86255	D	0.000018	0.62929	D	0.151725	0.999385	0.46865	D	1.56	0.39490	L	1.48	0.31731	T	-1.88	0.43906	N	0.606	0.62696	-1.0497	0.14481	T	0.110	0.39533	T	10	0.40117776	0.55578	T	0.010047	0.26124	T	0.162	0.41843	0.405	0.43738	0.572760530292	0.56943	0.20105874191740117	0.20022	0.271221807874	0.29642	0.749780237675	0.74413	T	0.040995	0.25712	T	-0.184341	0.23093	T	-0.207735	0.53911	T	0.242107507316164	0.22516	T	0.880112	0.59716	D	0.1584379	0.35646	0.14371431	0.34145	0.1584379	0.35645	0.14371431	0.34144	-7.007	0.54085	T	.	.	0.515	0.65274	A	.;.;.	.;.;.	4.368889	0.67248	25.1	0.99869480357417983	0.94726	0.94621	0.61765	D	AEFBI	0.705507	0.66087	D	0.432063393030947	0.63194	4.548426	0.475005137712829	0.66338	4.939115	0.972107929973295	0.29342	0.706298	0.61202	0	0.724815	0.89359	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.24	5.24	0.72863	2.082000	0.41230	5.271000	0.48152	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.2101:0.0:0.7899:0.0	7.144	0.24751	848	0.35897	HELP;.;HELP	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1214.98	33	chr2	42280953	.	G	C	1214.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.031e+00;DP=802;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.85;ReadPosRankSum=-1.019e+00;SOR=0.765	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1094	20	0	1	0
chr2	42763251	42763251	G	A	exonic	OXER1	.	nonsynonymous SNV	OXER1:NM_148962:exon1:c.C929T:p.P310L,	.	.	420	1091	10	1	0	12	0.00546946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	U	1.000	D	2.215	M	-1.31	T	0.227	D	0.615	D	0.688	4.865	27.8	2.85	0.763	5.573	11.027	0.633	0.0440997057121	0.0002	0.000399361	0.0009	0	0.0003	0	0	0.0003	0	0.0045	0.000608	94	154602	rs140761723	0.0004	0.0004	0.0003	0.0005	0.0044	0.0004	0.0003	0.0040	0.0039	2.988e-05	0.0001	0	0	0	0.0035	0.0001	0.0006	0.0044	0.0002	0.0002	0.0001	0.0002	0.0027	0.0001	0.0001	0.0016	0.0013	0	0	0	0	0	0	0	0.0002	0.0005	0.0027	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000009	0.62929	U	0.000000	0.99998	0.54805	D	2.875	0.83380	M	-1.31	0.79666	T	-9.83	0.98692	D	0.494	0.52740	0.227	0.86371	D	0.615	0.86376	D	10	0.023899913	0.00640	T	0.044	0.61317	D	0.633	0.85924	.	.	0.8773146778	0.87611	0.6474852452316898	0.64683	0.276129031246	0.30092	0.503885567188	0.39368	T	0.098885	0.40315	T	-0.122885	0.32652	T	0.050837	0.73639	D	0.192853459509187	0.20011	T	0.612239	0.23293	T	0.83476204	0.86236	0.6400364	0.78972	0.83476204	0.86237	0.6400364	0.78973	-13.306	0.90584	D	.	.	0.702	0.73041	P	.	.	3.820152	0.55160	23.6	0.99801246182642378	0.88639	0.91991	0.54704	D	AEFDBCI	0.606030	0.59652	D	0.366437057763865	0.59614	4.142145	0.204075311470157	0.50073	3.203232	0.999999909180412	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	3.74	2.85	0.32333	3.904000	0.56038	3.511000	0.38840	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:0.1899:0.8101:0.0	11.027	0.46965	788	0.46569	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1424.98	38	chr2	42763251	.	G	A	1424.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.92;DP=1425;ExcessHet=0.0000;FS=0.669;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=-1.406e+00;SOR=0.742	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	20	0	1	0
chr2	42767595	42767595	G	A	exonic	HAAO	.	nonsynonymous SNV	HAAO:NM_012205:exon9:c.C782T:p.S261L,	.	.	409	1107	6	0	0	6	0.0027027	0.0014	0.048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	B	0.0	B	0.199	N	1.000	N	0.06	N	1.62	T	-1.047	T	0.036	T	0.095	2.242	13.45	-0.075	0.062	0.108	2.655	0.030	.	.	0.000599042	0.0015	0	0.0006	0.0005	0	0.0008	0.0035	0.0043	0.0005563	86	154602	rs534302281	0.0005	0.0005	0.0004	0.0007	0.0035	0.0005	0.0005	0.0032	0.0030	0.0001	0.0004	0.0006	0.0002	1.961e-05	0.0030	0.0003	0.0008	0.0035	0.0003	0.0003	0.0002	0.0004	0.0017	0.0002	0.0002	0.0008	0.0006	2.405e-05	0	0.0003	0	0.0004	0	0.0034	0.0004	0	0.0017	0.324	0.13392	T	0.304	0.20100	T	0.001	0.07471	B	0.0	0.01387	B	0.199162	0.03307	N	1.574650	0.999997	0.08975	N	0.93	0.23535	L	1.62	0.28189	T	-1.13	0.29114	N	0.145	0.14622	-1.0467	0.15332	T	0.036	0.15640	T	9	0.0066372156	0.00150	T	.	.	.	0.030	0.07022	.	.	0.406394481233	0.40250	0.2559838105515484	0.25512	0.0531030045541	0.05856	0.4195548594	0.27775	T	0.003949	0.03363	T	-0.608041	0.00130	T	-0.649236	0.09007	T	0.0083693863811171	0.00101	T	0.492651	0.15191	T	0.12217173	0.28715	0.08638086	0.20010	0.13329817	0.31009	0.098226376	0.23410	-4.779	0.34345	T	.	.	0.081	0.08224	B	.	.	1.678634	0.21398	15.18	0.95378440945246834	0.26800	0.05083	0.10879	N	AEFDBCI	0.245470	0.36640	N	-0.908894475437126	0.10633	0.5090536	-0.88252366091611	0.12508	0.6438087	0.950587112832461	0.27903	0.67177	0.52595	0	0.702456	0.74545	0	0.644132	0.48003	0	0.567892	0.33627	0	.	.	4.71	-0.0748	0.13062	0.221000	0.17463	0.290000	0.16862	0.674000	0.70861	0.124000	0.23245	0.004000	0.18990	0.928000	0.46473	0.4058:0.0:0.3555:0.2388	2.655	0.04704	788	0.46569	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1317.98	35	chr2	42767595	.	G	A	1317.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.781;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=-1.878e+00;SOR=0.687	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,999	20	0	1	0
chr2	43697278	43697278	C	T	exonic	PLEKHH2	.	nonsynonymous SNV	PLEKHH2:NM_172069:exon7:c.C610T:p.P204S,	.	.	436	994	83	9	0	101	0.0483485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.004	B	0.005	B	0.000	N	0.986	N	0.805	L	0.9	T	-1.048	T	0.046	T	0.094	2.690	14.96	3.08	1.095	1.613	9.832	0.043	.	0.0061	0.0071885	0.0101	0.0016	0.0022	0.0002	0.0024	0.0091	0.0121	0.0336	0.0095988	1484	154602	rs142153423	0.0081	0.0081	0.0071	0.0090	0.0404	0.0080	0.0079	0.0361	0.0345	0.0017	0.0034	0.0092	0.0001	0.0026	0.0404	0.0068	0.0082	0.0340	0.0060	0.0060	0.0060	0.0060	0.0317	0.0057	0.0056	0.0276	0.0260	0.0019	0.0055	0.0049	0.0101	0.0004	0.0019	0.0340	0.0076	0.0071	0.0317	0.321	0.13522	T	0.36	0.16964	T	0.001	0.07471	B	0.002	0.06944	B	0.000101	0.50451	N	0.136303	0.985952	0.24662	N	0.345	0.11182	N	0.9	0.45248	T	-0.52	0.16187	N	0.044	0.01658	-1.0478	0.15016	T	0.046	0.19559	T	10	0.002683133	0.00041	T	.	.	.	0.043	0.11576	.	.	.	.	0.18599747169315667	0.18517	0.0193558594551	0.01897	0.276209801435	0.06969	T	0.010631	0.09578	T	-0.613942	0.00120	T	-0.629594	0.10446	T	0.00276598705785546	0.00029	T	0.741226	0.36032	T	0.061813172	0.12843	0.067769594	0.14065	0.061813172	0.12843	0.067769594	0.14065	-2.68	0.07136	T	.	.	0.066	0.02145	B	.	.	1.530231	0.19634	14.36	0.99065392673448482	0.51598	0.84387	0.43469	D	AEFI	0.242514	0.36396	N	-0.389099018397365	0.25855	1.406726	-0.214605360810121	0.31010	1.751141	0.00840704204609572	0.11670	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.01	3.08	0.34576	1.804000	0.38510	1.378000	0.26011	0.599000	0.40250	0.984000	0.35821	1.000000	0.68203	0.934000	0.47231	0.0:0.7827:0.1403:0.077	9.832	0.40114	604	0.67577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	789.98	33	chr2	43697278	.	C	T	789.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.051e+00;DP=760;ExcessHet=0.0000;FS=2.012;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=0.624;SOR=0.460	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr2	43809753	43809753	G	C	exonic	DYNC2LI1	.	nonsynonymous SNV	DYNC2LI1:NM_001193464:exon13:c.G1045C:p.E349Q	Short-rib throacic dysplasia 15 with polydactyly, Autosomal recessive	.	456	1060	5	1	0	7	0.00329102	.	.	697571	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.42	T	0.03	B	0.034	B	0.023	N	1.000	N	0.69	N	2.15	T	-1.061	T	0.091	T	0.165	2.466	14.21	5.11	2.642	3.891	15.567	0.030	0.00649819671602	0.0023	0.000798722	0.0018	0.0001	0.0007	0	0	0.0031	0	0.0002	0.0015912	246	154602	rs41281457	0.0015	0.0015	0.0014	0.0015	0.0014	0.0014	0.0014	0.0010	0.0010	0.0002	0.0008	0.0267	0	0.0001	0.0014	0.0011	0.0034	0.0001	0.0016	0.0016	0.0017	0.0015	0.0015	0.0014	0.0014	0.0013	0.0012	0.0004	0	0.0007	0.0302	0	9.423e-05	0	0.0015	0.0024	0	0.26	0.16574	T	0.246	0.24054	T	0.018	0.20002	B	0.015	0.22546	B	0.022667	0.26589	N	0.410732	0.927695	0.27138	N	1.905	0.50856	L	2.15	0.19311	T	-0.54	0.16598	N	0.109	0.12627	-1.0612	0.11459	T	0.091	0.34847	T	10	0.0021591187	0.00031	T	0.006498	0.17129	T	0.030	0.07022	.	.	0.110078149338	0.10416	0.28648085428226705	0.28561	0.0395115337248	0.04217	0.421312689781	0.28017	T	0.031434	0.22039	T	-0.521083	0.00434	T	-0.54029	0.18268	T	0.0162886221873582	0.00400	T	0.694731	0.30434	T	0.08197862	0.18862	0.05434256	0.09330	0.107283	0.25367	0.06866476	0.14367	-3.548	0.17467	T	.	.	0.118	0.25462	B	.;.	.;.	2.059045	0.26183	17.03	0.99351661716438056	0.60615	0.86873	0.46251	D	AEFBI	0.295283	0.40544	N	-0.102872209322652	0.37268	2.165758	0.101427095412114	0.44621	2.740366	0.999967266713653	0.48965	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	5.11	5.11	0.69188	3.939000	0.56302	5.087000	0.47319	-0.116000	0.14526	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.0:1.0:0.0	15.567	0.76044	637	0.64373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	879.98	66	chr2	43809753	.	G	C	879.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.926;DP=887;ExcessHet=0.0000;FS=1.935;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=0.166;SOR=0.458	GT:AD:DP:GQ:PL	0/1:35,38:73:99:894,0,755	20	0	1	0
chr2	43813208	43813208	T	C	exonic	ABCG5	.	nonsynonymous SNV	ABCG5:NM_022436:exon13:c.A1864G:p.M622V,	Sitosterolemia, Autosomal recessive	.	0	1457	65	0	0	65	0.0218194	.	.	191425	Cardiovascular_phenotype|Sitosterolemia_1|not_specified|Sitosterolemia_2|Sitosterolemia|not_provided	MedGen:CN230736|MONDO:MONDO:0020747,MedGen:C2749759,OMIM:210250|MedGen:CN169374|MONDO:MONDO:0020748,MedGen:C5231453,OMIM:618666|MONDO:MONDO:0008863,MedGen:C0342907,OMIM:PS210250,Orphanet:2882|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.42	T	0.006	B	0.006	B	0.217	N	1.000	N	0.345	N	2.58	T	-0.653	T	0.334	T	0.086	-1.324	0.033	-5.22	-1.297	-0.966	8.877	0.011	.	0.0052	0.00239617	0.0054	0.0016	0.0041	0.0006	0.0003	0.0074	0.0102	0.0051	0.005401	835	154602	rs140374206	0.0061	0.0061	0.0060	0.0062	0.0202	0.0060	0.0059	0.0172	0.0161	0.0019	0.0048	0.0155	0.0002	0.0006	0.0202	0.0064	0.0071	0.0055	0.0048	0.0048	0.0050	0.0045	0.0066	0.0045	0.0044	0.0061	0.0059	0.0014	0.0011	0.0057	0.0193	0	0	0.0544	0.0066	0.0109	0.0041	0.531	0.07002	T	0.144	0.33109	T	0.0	0.02946	B	0.0	0.01387	B	0.216745	0.03425	N	1.568630	1	0.08975	N	0	0.06538	N	-2.49	0.89145	D	-0.36	0.13035	N	0.018	0.00252	-0.6531	0.62579	T	0.334	0.70125	T	10	0.0076950192	0.00175	T	.	.	.	0.011	0.01250	.	.	0.504052602331	0.50044	0.7185875474098846	0.71801	0.0703236255297	0.07878	0.225100964308	0.01626	T	0.198767	0.55585	T	-0.493517	0.00622	T	-0.472284	0.25270	T	0.000250442206110192	0.00002	T	0.458654	0.13238	T	0.097186916	0.22905	0.107392155	0.25852	0.10175871	0.24038	0.097454526	0.23198	-2.812	0.08294	T	.	.	0.056	0.00487	B	.;.	.;.	-0.629185	0.01494	0.094	0.68266087374631024	0.08605	0.02739	0.07414	N	AEFBI	0.158635	0.28432	N	-1.60752377494272	0.01227	0.05337413	-1.64739804604442	0.01389	0.06277521	0.781759617847762	0.23856	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.89	-5.22	0.02592	-0.667000	0.05374	-2.542000	0.03629	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.673000	0.33338	0.1141:0.5016:0.0:0.3844	8.877	0.34510	650	0.62973	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1776.98	33	chr2	43813208	.	T	C	1776.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.838;DP=891;ExcessHet=0.0000;FS=0.676;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.69;ReadPosRankSum=0.174;SOR=0.721	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1088	20	0	1	0
chr2	43824966	43824966	G	A	exonic	ABCG5	.	nonsynonymous SNV	ABCG5:NM_022436:exon7:c.C827T:p.T276M,	Sitosterolemia, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	884927	Sitosterolemia|Sitosterolemia_1|Cardiovascular_phenotype	MONDO:MONDO:0008863,MedGen:C0342907,OMIM:PS210250,Orphanet:2882|MONDO:MONDO:0020747,MedGen:C2749759,OMIM:210250|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.999	D	0.642	P	0.058	N	1.000	N	2	M	1.28	T	-0.982	T	0.100	T	0.344	1.498	10.96	2.92	0.336	2.477	2.064	0.142	0.0280417941185	7.7e-05	.	2.499e-05	0	0	0	0	4.546e-05	0	0	1.94e-05	3	154602	rs368800131	8.894e-06	8.893e-06	1.089e-05	6.876e-06	3.479e-05	4.96e-06	3.82e-06	9.24e-06	4.56e-06	2.987e-05	2.236e-05	0	0	0	0	5.396e-06	3.312e-05	3.479e-05	2.629e-05	2.627e-05	3.855e-05	1.346e-05	0.0002	8.14e-06	5.14e-06	1.92e-05	1.032e-05	7.24e-05	0	0	0	0	0	0	0	0	0.0002	0.069	0.35537	T	0.027	0.55341	D	0.999	0.77913	D	0.642	0.52168	P	0.057562	0.22470	N	0.527621	1	0.08975	N	2.8	0.81625	M	1.28	0.35960	T	-2.56	0.55339	D	0.477	0.51226	-0.9820	0.34538	T	0.100	0.37213	T	10	0.32197368	0.49553	T	0.028042	0.50772	D	0.142	0.37995	.	.	0.698486972665	0.69588	0.5562481896253819	0.55551	0.287562580865	0.31159	0.370298981667	0.20875	T	0.579178	0.86192	D	-0.262939	0.12558	T	-0.433942	0.29490	T	0.543064832687378	0.34218	D	0.924308	0.72323	D	0.077636264	0.17633	0.10486733	0.25197	0.077636264	0.17632	0.10486733	0.25196	-7.473	0.57420	T	.	.	0.089	0.11941	B	.;.	.;.	3.233560	0.44108	21.9	0.99608043064560559	0.74634	0.18527	0.20297	N	AEFBI	0.308938	0.41538	N	-0.103644848975604	0.37232	2.163317	-0.268248929149532	0.29151	1.630928	0.0105226773357508	0.12039	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.74	2.92	0.32998	2.068000	0.41097	7.390000	0.58507	0.671000	0.69459	0.076000	0.22236	0.999000	0.35428	0.421000	0.27250	0.1445:0.2333:0.4025:0.2197	2.064	0.03380	677	0.60274	ABC transporter-like;ABC transporter-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	669.98	34	chr2	43824966	.	G	A	669.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.92;DP=793;ExcessHet=0.0000;FS=5.670;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.28;ReadPosRankSum=0.096;SOR=1.070	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1207	20	0	1	0
chr2	43832056	43832056	G	C	exonic	ABCG5	.	nonsynonymous SNV	ABCG5:NM_022436:exon3:c.C293G:p.A98G,	Sitosterolemia, Autosomal recessive	.	1	1500	21	0	0	21	0.00695134	.	.	274052	Sitosterolemia_1|Cardiovascular_phenotype|not_specified|not_provided|ABCG5-related_disorder|Hyperuricemic_nephropathy,_familial_juvenile_type_4|Sitosterolemia	MONDO:MONDO:0020747,MedGen:C2749759,OMIM:210250|MedGen:CN230736|MedGen:CN169374|MedGen:C3661900|.|MONDO:MONDO:0014891,MedGen:C4310741,OMIM:617056|MONDO:MONDO:0008863,MedGen:C0342907,OMIM:PS210250,Orphanet:2882	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.455	M	-3.47	D	1.021	D	0.908	D	0.851	5.578	35	5.37	2.510	9.049	17.669	0.871	0.385162696817	0.0017	0.00139776	0.0050	0	0.0070	0	0.0034	0.0075	0.0099	0.0040	0.0016882	261	154602	rs145164937	0.0021	0.0021	0.0021	0.0022	0.0096	0.0021	0.0021	0.0076	0.0068	0.0003	0.0027	0.0107	0	0.0013	0.0096	0.0019	0.0027	0.0038	0.0020	0.0020	0.0019	0.0021	0.0042	0.0018	0.0017	0.0034	0.0031	0.0003	0	0.0042	0.0075	0	0.0015	0.0102	0.0023	0.0038	0.0039	0.007	0.59928	D	0.018	0.59732	D	0.977	0.58535	D	0.817	0.58928	P	0.000123	0.49741	D	0.209754	1	0.81001	D	2.625	0.76847	M	-3.47	0.94546	D	-2.82	0.59545	D	0.725	0.72656	1.021	0.97547	D	0.908	0.96936	D	10	0.028946191	0.01024	T	0.385163	0.93062	D	0.871	0.96133	.	.	0.924588364626	0.92382	0.740158358082866	0.73960	0.344378291777	0.36367	0.590849280357	0.51613	T	0.697753	0.91269	D	0.123655	0.66737	D	0.401794	0.92170	D	0.0645958940440364	0.07870	T	0.973153	0.90356	D	0.7880237	0.83150	0.8408072	0.90891	0.837819	0.86454	0.7951749	0.87968	-7.88	0.60249	D	.	.	0.224	0.45581	B	.;.	.;.	5.013596	0.83272	28.0	0.9978291564879106	0.86955	0.99141	0.91831	D	AEFDBI	0.943052	0.94840	D	0.878893163385404	0.90686	10.51886	0.854146922179197	0.93256	11.92419	0.999999999994353	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.607795	0.38427	0	0.554799	0.18163	0	.	.	5.37	5.37	0.76949	9.211000	0.94222	9.775000	0.81571	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.919000	0.45453	0.0:0.0:1.0:0.0	17.669	0.88115	691	0.58815	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	515.98	49	chr2	43832056	.	G	C	515.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.190e-01;DP=762;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=-8.120e-01;SOR=0.632	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr2	44343945	44343945	T	C	exonic	PREPL	.	nonsynonymous SNV	PREPL:NM_001042385:exon4:c.A416G:p.N139S	.	.	430	1090	2	0	0	2	0.00091659	.	.	518241	Myasthenic_syndrome,_congenital,_22|PREPL-related_disorder	MONDO:MONDO:0044299,MedGen:C4479088,OMIM:616224|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.2	T	0.001	B	0.007	B	0.597	N	1.000	N	0	N	1.09	T	-1.017	T	0.044	T	0.01	1.963	12.52	-8.58	-1.263	-1.176	11.738	0.038	0.00412292526536	0.0025	0.000199681	0.0028	0.0006	0.0007	0	0.0008	0.0047	0.0034	0.0001	0.0004398	68	154602	rs138555092	0.0024	0.0024	0.0024	0.0023	0.0038	0.0023	0.0023	0.0026	0.0024	0.0006	0.0008	0.0100	0	0.0013	0.0038	0.0025	0.0031	0.0002	0.0014	0.0014	0.0016	0.0012	0.0020	0.0013	0.0012	0.0017	0.0016	0.0005	0.0055	0.0007	0.0089	0	0.0009	0.0034	0.0020	0.0009	0.0002	0.307	0.14159	T	0.556	0.12211	T	0.0	0.07471	B	0.001	0.12992	B	0.596725	0.10997	N	0.834058	0.999987	0.18878	N	0.345	0.11182	N	1.09	0.39223	T	-0.13	0.42957	N	0.063	0.04547	-1.0170	0.24690	T	0.044	0.18742	T	10	0.0030634105	0.00051	T	0.004123	0.09869	T	0.038	0.09825	.	.	0.143124449307	0.13826	0.14062476374069	0.13985	0.00548066125561	0.00480	0.255181491375	0.04334	T	0.015173	0.18622	T	-0.677117	0.00050	T	-0.747514	0.03583	T	0.00330174723611626	0.00035	T	0.737626	0.40554	T	0.016988471	0.00237	0.022017227	0.00236	0.019390598	0.00469	0.022566486	0.00279	-2.744	0.09621	T	0.13388803545867412	0.14412	0.066	0.10545	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	-0.740964	0.01229	0.062	0.87772938032960868	0.17471	0.06337	0.12335	N	AEFBI	0.057676	0.10764	N	-1.26476096307748	0.04108	0.1847762	-1.23775729273645	0.05315	0.2529345	0.960741922608	0.28509	0.732398	0.92422	0	0.659464	0.62310	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.6	-8.58	0.00780	-1.158000	0.03264	-5.567000	0.01672	-0.722000	0.03793	0.004000	0.16614	0.000000	0.08366	0.969000	0.54022	0.0935:0.5326:0.0:0.3739	11.738	0.51042	835	0.38313	.;.;.;Peptidase S9A, N-terminal domain;Peptidase S9A, N-terminal domain;Peptidase S9A, N-terminal domain;Peptidase S9A, N-terminal domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	978.98	34	chr2	44343945	.	T	C	978.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=775;ExcessHet=0.0000;FS=2.086;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=-1.381e+00;SOR=1.056	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1226	20	0	1	0
chr2	44754083	44754083	C	T	exonic	CAMKMT	.	nonsynonymous SNV	CAMKMT:NM_024766:exon9:c.C727T:p.L243F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	2.715	M	1.79	T	-0.669	T	0.217	T	0.929	4.072	20.9	5.79	2.733	5.727	20.04	0.448	0.0295755430095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	2.52e-05	0	0	.	.	0	0	0	2.52e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.061993	1	0.81001	D	3.065	0.87014	M	1.79	0.25509	T	-3.43	0.67359	D	0.941	0.94786	-0.6694	0.61856	T	0.217	0.57915	T	10	0.7681663	0.76869	D	0.029576	0.52060	D	0.448	0.74935	0.689	0.82653	0.642380095825	0.63942	0.8208165738696329	0.82038	0.450256649311	0.44793	0.782760024071	0.79344	T	0.18281	0.60704	T	0.251259	0.78720	D	0.12314	0.78443	D	0.98873633146286	0.79030	D	0.881012	0.60027	D	0.67793345	0.76858	0.6373344	0.78822	0.67793345	0.76859	0.6373344	0.78823	-7.506	0.57653	D	.	.	0.631	0.70832	P	.;.	.;.	4.742518	0.76494	26.5	0.99886345922780329	0.96126	0.94442	0.61179	D	AEFDBCI	0.664788	0.63383	D	0.881619362536468	0.90830	10.58621	0.849409670395134	0.92982	11.75066	0.999999999999926	0.74766	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.79	5.79	0.91751	5.802000	0.68783	7.718000	0.67175	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.04	0.97580	759	0.50631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1318.98	36	chr2	44754083	.	C	T	1318.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.201;DP=869;ExcessHet=0.0000;FS=1.448;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=-1.334e+00;SOR=0.662	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr2	46375695	46375695	A	G	exonic	EPAS1	.	nonsynonymous SNV	EPAS1:NM_001430:exon8:c.A892G:p.T298A,	Erythrocytosis, familial, 4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.0	B	0.003	B	0.000	D	1.000	D	0.735	N	2.3	T	-1.042	T	0.025	T	0.102	1.687	11.60	4.16	2.018	2.200	7.058	0.072	0.0042826507542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	0.13349	T	0.623	0.07368	T	0.0	0.02946	B	0.003	0.08700	B	0.000007	0.62929	D	0.107851	0.999795	0.49177	D	0.23	0.09627	N	2.3	0.16953	T	-1.16	0.29727	N	0.24	0.27077	-1.0418	0.16770	T	0.025	0.10821	T	10	0.19733101	0.35660	T	0.004283	0.10373	T	0.072	0.21020	0.361	0.36548	0.472463234578	0.46874	0.16872347165134782	0.16792	0.134183297464	0.15117	0.666919648647	0.62398	T	0.298254	0.67082	T	-0.28624	0.10017	T	-0.648941	0.09028	T	0.230057457473153	0.21954	T	0.690631	0.30012	T	0.22668155	0.45354	0.12353774	0.29789	0.22668155	0.45354	0.12353774	0.29788	-4.855	0.35225	T	.	.	0.065	0.02038	B	.	.	2.584421	0.33511	19.36	0.95705878692570334	0.27605	0.86094	0.45311	D	AEFDGBI	0.372398	0.45806	N	-0.239020340540555	0.31545	1.769821	-0.0438480063783811	0.37758	2.215104	0.998746133642151	0.37581	0.706548	0.73137	0	0.59043	0.45803	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.31	4.16	0.48138	2.208000	0.42436	4.182000	0.42344	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.7732:0.0:0.2268:0.0	7.058	0.24288	907	0.22727	PAS fold-3|PAS domain|PAS domain|PAS domain|PAS domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	687.98	35	chr2	46375695	.	A	G	687.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.100;DP=755;ExcessHet=0.0000;FS=3.617;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=-9.100e-01;SOR=1.329	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr2	46380506	46380506	G	A	exonic	EPAS1	.	nonsynonymous SNV	EPAS1:NM_001430:exon12:c.G1834A:p.G612R,	Erythrocytosis, familial, 4	.	0	1521	1	0	0	1	0.000328623	.	.	733497	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.52	T	0.181	B	0.018	B	0.328	N	1.000	N	1.24	L	0.85	T	-1.061	T	0.071	T	0.413	0.057	4.310	5.18	2.426	2.514	12.548	0.070	0.00839222944076	0.0005	0.000998403	0.0003	0.0029	0	0.0001	0	1.5e-05	0.0011	0.0002	0.0002781	43	154602	rs142445582	9.714e-05	9.713e-05	9.12e-05	0.0001	0.0027	8.376e-05	7.915e-05	0.0022	0.0021	0.0027	0.0001	0	5.038e-05	0	0.0005	1.079e-05	0.0002	0.0002	0.0007	0.0006	0.0006	0.0007	0.0021	0.0005	0.0005	0.0018	0.0016	0.0021	0	0.0004	0	0.0004	0	0	1.471e-05	0.0005	0	0.338	0.12796	T	0.195	0.28032	T	0.181	0.29111	B	0.018	0.18489	B	0.328075	0.14160	N	0.703400	1	0.08975	N	1.79	0.46772	L	0.85	0.47130	T	-0.89	0.24026	N	0.39	0.43126	-1.0612	0.11459	T	0.071	0.28936	T	10	0.0077501833	0.00176	T	0.008392	0.22206	T	0.070	0.20419	0.174	0.08014	0.551803678752	0.54839	0.4558328497175547	0.45501	0.170797870881	0.19246	0.468226313591	0.34436	T	0.399237	0.75713	T	-0.448535	0.01152	T	-0.422303	0.30810	T	0.0122786086327722	0.00199	T	0.865813	0.56549	D	0.05529735	0.10729	0.066820234	0.13741	0.05529735	0.10729	0.066820234	0.13740	-3.805	0.20879	T	.	.	0.106	0.19760	B	.	.	2.806095	0.36928	20.4	0.80802799438052375	0.13376	0.73354	0.35883	D	AEFDBCI	0.480760	0.52234	N	-0.355339079825623	0.27077	1.482703	-0.276163710244457	0.28886	1.614026	0.999175983140622	0.38651	0.706548	0.73137	0	0.588066	0.40923	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.18	5.18	0.71140	1.279000	0.32796	8.709000	0.78130	0.613000	0.49114	0.163000	0.23839	1.000000	0.68203	0.194000	0.21720	0.0865:0.0:0.9135:0.0	12.548	0.55556	905	0.23532	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1830.98	33	chr2	46380506	.	G	A	1830.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.49;DP=825;ExcessHet=0.0000;FS=0.641;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=1.05;SOR=0.591	GT:AD:DP:GQ:PL	0/1:63,72:135:99:1845,0,1389	20	0	1	0
chr2	46994407	46994407	G	T	exonic	TTC7A	.	nonsynonymous SNV	TTC7A:NM_001288951:exon7:c.G894T:p.E298D	Gastrointestinal defects and immunodeficiency syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.001	B	0.024	N	1.000	D	-0.05	N	1.96	T	-1.013	T	0.024	T	0.14	0.305	5.651	-4.69	-0.652	-1.189	5.757	0.046	0.00210108046434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.807	0.03060	T	0.802	0.04041	T	0.0	0.02946	B	0.001	0.04355	B	0.024230	0.26299	N	0.407066	1	0.81001	D	-1.555	0.00461	N	1.94	0.29866	T	0.09	0.06739	N	0.211	0.23506	-1.0130	0.25975	T	0.024	0.10103	T	10	0.039106846	0.02376	T	0.002101	0.03882	T	0.046	0.12618	0.286	0.24440	0.0846915920261	0.08053	0.17840872281559927	0.17759	0.0577376648118	0.06392	0.485097527504	0.36759	T	0.028745	0.20752	T	-0.322839	0.06667	T	-0.701513	0.05743	T	0.0541398301720619	0.06213	T	0.763824	0.39073	T	0.037145413	0.04707	0.04084837	0.04509	0.037145413	0.04707	0.04084837	0.04509	-3.658	0.18700	T	0.04325274396848253	0.00477	0.061	0.01834	B	.;.;.	.;.;.	-0.379384	0.02292	0.240	0.74243239005318962	0.10623	0.07361	0.13381	N	AEFBI	0.049288	0.08500	N	-1.20679218406349	0.04899	0.2221412	-1.13117320986967	0.07110	0.3446652	0.999103939240032	0.38452	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.63	-4.69	0.03061	-1.001000	0.03800	-1.934000	0.04472	-0.153000	0.12021	0.094000	0.22667	0.000000	0.08366	0.996000	0.76049	0.2274:0.5333:0.1461:0.0932	5.757	0.17445	676	0.60355	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1518.98	33	chr2	46994407	.	G	T	1518.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.000e-03;DP=852;ExcessHet=0.0000;FS=0.626;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.93;ReadPosRankSum=2.33;SOR=0.781	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	20	0	1	0
chr2	47369516	47369516	C	T	exonic	EPCAM	.	nonsynonymous SNV	EPCAM:NM_002354:exon1:c.C11T:p.P4L,	Colorectal cancer, hereditary nonpolyposis, type 8;Diarrhea 5, with tufting enteropathy, congenital, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	621120	not_specified|Congenital_diarrhea_5_with_tufting_enteropathy|Lynch_syndrome_8	MedGen:CN169374|MONDO:MONDO:0013184,MedGen:C2750737,OMIM:613217,Orphanet:92050|MONDO:MONDO:0013196,MedGen:C2750471,OMIM:613244,Orphanet:144	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.8	T	0.014	B	0.002	B	0.239	N	0.995	N	1.445	L	-0.77	T	-0.841	T	0.365	T	0.25	0.676	7.618	1.17	0.042	0.236	5.881	0.105	0.515611264416	.	.	.	.	.	.	.	.	.	.	.	.	.	rs778641299	2.834e-06	5.472e-06	5.612e-06	0	0.0001	6.6e-07	4.5e-07	4.26e-05	2.593e-05	0.0001	0	0	0	0	0	0	0	0	1.313e-05	1.312e-05	2.57e-05	0	4.811e-05	2.18e-06	8.2e-07	7.97e-06	2.98e-06	4.811e-05	0	0	0	0	0	0	0	0	0	0.643	0.91255	T	0.597	0.92824	T	0.014	0.16867	B	0.002	0.06944	B	0.239396	0.15745	N	0.616838	0.999978	0.23308	N	1.59	0.40313	L	-0.77	0.84842	T	-1.2	0.30555	N	0.138	0.13626	-0.8406	0.52607	T	0.365	0.72575	T	10	0.090209454	0.15695	T	0.515611	0.95368	D	0.105	0.29889	0.34	0.33141	0.208000267992	0.20380	0.6097746306863321	0.60909	0.0126512026811	0.01211	0.678605496883	0.64069	T	0.155555	0.49733	T	-0.00658684	0.50741	T	-0.247238	0.50089	T	0.06254792958498	0.07565	T	0.515049	0.16594	T	0.028396368	0.02172	0.048641883	0.07268	0.028396368	0.02171	0.048641883	0.07268	-2.429	0.05314	T	.	.	0.153	0.48156	B	.;.	.;.	1.065456	0.14476	11.05	0.95829439097275959	0.27933	0.03546	0.08744	N	AEFDGBHCI	0.059090	0.11135	N	-1.16372069653837	0.05558	0.2536752	-1.18262526453959	0.06200	0.2976716	0.99999999996966	0.74766	0.441713	0.08003	0	0.475579	0.06741	0	0.52208	0.10781	0	0.554799	0.18163	0	.	.	3.97	1.17	0.19998	0.251000	0.18025	-0.416000	0.09315	-0.281000	0.06419	0.008000	0.17931	0.000000	0.08366	0.050000	0.15192	0.0:0.6529:0.0:0.3471	5.881	0.18105	893	0.26510	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	865.98	33	chr2	47369516	.	C	T	865.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.132;DP=768;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=-9.070e-01;SOR=0.627	GT:AD:DP:GQ:PL	0/1:34,35:69:99:880,0,866	20	0	1	0
chr2	47377058	47377058	A	G	exonic	EPCAM	.	nonsynonymous SNV	EPCAM:NM_002354:exon5:c.A536G:p.K179R,	Colorectal cancer, hereditary nonpolyposis, type 8;Diarrhea 5, with tufting enteropathy, congenital, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.236	B	0.039	B	0.005	N	0.976	D	1.73	L	-0.69	T	-0.658	T	0.246	T	0.437	0.909	8.697	4.98	2.084	2.677	10.997	0.217	0.0246381896829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.26740	T	0.267	0.24987	T	0.236	0.30770	B	0.039	0.23607	B	0.005455	0.32788	N	0.343603	0.97576	0.39217	D	2.125	0.59049	M	-0.7	0.72785	T	-1.22	0.30964	N	0.44	0.47857	-0.6583	0.62351	T	0.246	0.61530	T	10	0.31376582	0.48824	T	0.024638	0.47627	T	0.217	0.51112	0.398	0.42590	0.591171394266	0.58793	0.18962762654596044	0.18880	0.0131313156264	0.01263	0.507154047489	0.39824	T	0.023071	0.60309	T	-0.00138924	0.51464	T	-0.239772	0.50821	T	0.456063628196716	0.31020	T	0.653735	0.26383	T	0.085854374	0.19934	0.07957987	0.17927	0.085854374	0.19934	0.07957987	0.17926	-3.166	0.12070	T	0.14377269052840694	0.16371	0.079	0.07507	B	.;.	.;.	1.506783	0.19364	14.22	0.98129383231111922	0.38506	0.88003	0.47745	D	AEBI	0.419958	0.48697	N	-0.116900813602991	0.36655	2.121797	-0.0378151055870336	0.38022	2.234247	0.383031909225997	0.19978	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	4.98	4.98	0.65679	3.128000	0.50186	3.348000	0.37762	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.018000	0.11154	1.0:0.0:0.0:0.0	10.997	0.46800	879	0.29470	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1703.98	33	chr2	47377058	.	A	G	1703.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.270e+00;DP=870;ExcessHet=0.0000;FS=0.599;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.06;ReadPosRankSum=0.515;SOR=0.779	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr2	47798646	47798646	A	C	exonic	MSH6	.	nonsynonymous SNV	MSH6:NM_001281492:exon2:c.A273C:p.E91D	Colorectal cancer, hereditary nonpolyposis, type 5, Autosomal dominant;Endometrial cancer, familial;Mismatch repair cancer syndrome, Autosomal recessive	YES	0	1516	6	0	0	6	0.00197498	.	.	95026	Breast_and/or_ovarian_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|Carcinoma_of_colon|Abnormality_of_the_ovary|not_provided|Hereditary_nonpolyposis_colorectal_neoplasms|Lynch_syndrome_5|Hereditary_cancer	MedGen:CN221562|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0002032,MedGen:C0699790|Human_Phenotype_Ontology:HP:0000137,MONDO:MONDO:0005558,MedGen:C4021818|MedGen:C3661900|MeSH:D003123,MedGen:C0009405|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350,Orphanet:144|MedGen:C1333600	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.16	T	0.884	P	0.268	B	0.704	N	1.000	D	1.52	L	0.16	T	-0.561	T	0.384	T	0.427	1.422	10.69	-0.723	-0.032	-0.302	4.968	0.316	0.0227959788225	0.0008	.	0.0006	0.0003	0.0002	0	0	0.0009	0	0.0007	0.0006015	93	154602	rs41557217	0.0008	0.0008	0.0007	0.0008	0.0012	0.0007	0.0007	0.0010	0.0010	5.974e-05	0.0005	0	0	5.756e-05	0.0007	0.0008	0.0005	0.0012	0.0006	0.0006	0.0006	0.0007	0.0009	0.0005	0.0005	0.0007	0.0007	0.0003	0	0.0009	0	0.0002	0	0.0068	0.0009	0.0009	0.0006	0.16	0.23721	T	0.425	0.92824	T	0.003	0.11197	B	0.002	0.06944	B	0.703756	0.10072	N	0.876699	0.998675	0.51612	D	1.59	0.40313	L	-1.92	0.85173	D	-0.87	0.26639	N	0.169	0.17966	-0.5613	0.66354	T	0.384	0.73966	T	10	0.031133354	0.01245	T	0.022796	0.45720	T	0.316	0.63799	0.092	0.01108	0.841943260456	0.84042	0.07321851081520586	0.07258	.	.	0.410471796989	0.26522	T	0.279066	0.65174	T	-0.286055	0.10034	T	-0.234116	0.51373	T	0.00678472511881113	0.00076	T	0.643236	0.29028	T	0.032249473	0.03216	0.04116448	0.04617	0.038520277	0.05146	0.049310256	0.07507	-3.545	0.22662	T	0.09027583960300532	0.05605	0.079	0.09772	B	.;.;.;.	.;.;.;.	0.944175	0.13202	9.701	0.98176351431738729	0.38907	0.73602	0.36002	D	AEFBCI	0.155883	0.28115	N	-0.495809778911639	0.22217	1.184772	-0.496778031112651	0.22242	1.20716	0.985806220003635	0.30952	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.27	-0.723	0.10617	-0.266000	0.08660	-0.416000	0.09315	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.4342:0.0:0.4134:0.1524	4.968	0.13447	903	0.23940	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0.04762	5489.11	34	chr2	47798646	.	A	C	5489.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.234e+00;DP=1232;ExcessHet=0.1072;FS=1.725;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=0.744;SOR=0.572	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,120,1508	19	0	2	0
chr2	47799343	47799343	G	A	exonic	MSH6	.	nonsynonymous SNV	MSH6:NM_001281492:exon2:c.G970A:p.G324S	Colorectal cancer, hereditary nonpolyposis, type 5, Autosomal dominant;Endometrial cancer, familial;Mismatch repair cancer syndrome, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	807211	Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.998	D	0.000	D	1.000	D	2.385	M	-2.08	D	0.655	D	0.791	D	0.911	4.458	23.8	5.15	2.408	9.835	18.619	0.834	0.155374878272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.58626	D	0.012	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.905	0.84014	M	-2.08	0.86010	D	-5.65	0.86988	D	0.874	0.87157	0.655	0.92609	D	0.791	0.92920	D	10	0.9196079	0.91317	D	0.155375	0.83633	D	0.834	0.94765	0.806	0.92372	0.943350435871	0.94276	0.749069511857866	0.74852	.	.	0.886476993561	0.94814	D	0.808571	0.95191	D	0.435192	0.91790	D	0.387347	0.91688	D	0.993670297605094	0.84570	D	0.945305	0.91674	D	0.8548864	0.87699	0.7471236	0.85053	0.8548864	0.87701	0.7471236	0.85054	-9.551	0.77071	D	0.5749010540387977	0.64190	0.818	0.82843	P	.;.;.;.;.	.;.;.;.;.	4.427198	0.68622	25.3	0.99842763701111215	0.92316	0.98716	0.85943	D	AEFBCI	0.911748	0.87144	D	0.876015401900491	0.90536	10.44861	0.84339302578143	0.92623	11.53496	1.0	0.98316	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.15	5.15	0.70287	9.968000	0.99102	11.864000	0.98398	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	18.619	0.91272	904	0.23766	.;.;DNA mismatch repair protein MutS-like, N-terminal;DNA mismatch repair protein MutS-like, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1920.98	34	chr2	47799343	.	G	A	1920.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.41;DP=1089;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.37;ReadPosRankSum=0.839;SOR=0.696	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,120,1508	20	0	1	0
chr2	47905552	47905554	GCT	-	exonic	FBXO11	.	nonframeshift deletion	FBXO11:NM_001190274:exon1:c.167_169del:p.Q56del,	.	.	419	1077	19	0	7	26	0.00874367	.	.	1356566	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0219	0	0	0	0	0.0109	0	0.0282	3.84e-05	1	26028	rs746953076	0.0013	0.0065	0.0012	0.0013	0.0028	0.0012	0.0012	0.0022	0.0020	0.0014	0.0022	0.0010	0.0015	0.0022	0.0007	0.0012	0.0012	0.0028	0.0002	0.0003	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	0.0003	0	0.0001	0	0	0.0001	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	855.36	33	chr2	47905551	.	GGCT	G,GGCTGCT	855.36	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-7.820e-01;DP=621;ExcessHet=0.3300;FS=2.208;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=-1.117e+00;SOR=0.379	GT:AD:DP:GQ:PL	0/0:33,0,0:33:99:0,99,962,99,962,962	18	0	2	0
chr2	47905554	47905554	-	GCT	exonic	FBXO11	.	nonframeshift insertion	FBXO11:NM_001190274:exon1:c.166_167insAGC:p.Q56_P57insQ,	.	.	419	1077	19	0	7	26	0.00874367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	855.36	33	chr2	47905551	.	GGCT	G,GGCTGCT	855.36	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-7.820e-01;DP=621;ExcessHet=0.3300;FS=2.208;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=-1.117e+00;SOR=0.379	GT:AD:DP:GQ:PL	0/0:33,0,0:33:99:0,99,962,99,962,962	18	0	2	0
chr2	48495758	48495758	G	T	exonic	PPP1R21	.	nonsynonymous SNV	PPP1R21:NM_001135629:exon16:c.G1679T:p.G560V	.	.	436	1056	29	1	0	31	0.0144657	.	.	719897	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.27	T	1.0	D	0.986	D	0.000	D	1.000	D	1.78	L	.	.	-0.538	T	0.290	T	0.666	4.008	20.5	4.23	2.563	6.996	15.468	0.202	.	0.0065	0.00758786	0.0059	0.0077	0.0038	0.0013	0.0011	0.0041	0.0066	0.0182	0.0056338	871	154602	rs142541304	0.0048	0.0048	0.0043	0.0053	0.0176	0.0047	0.0046	0.0169	0.0166	0.0069	0.0044	0.0049	0.0005	0.0006	0.0061	0.0040	0.0060	0.0176	0.0050	0.0050	0.0048	0.0053	0.0203	0.0047	0.0046	0.0171	0.0158	0.0069	0	0.0054	0.0035	0.0004	0.0004	0.0034	0.0038	0.0090	0.0203	0.006	0.61437	D	0.025	0.56192	D	1.0	0.90584	D	0.986	0.76916	D	0.000000	0.84330	D	0.047651	1	0.81001	D	2.215	0.62545	M	.	.	.	-2.42	0.53096	N	0.746	0.74826	-0.5379	0.67243	T	0.290	0.66211	T	9	0.011542201	0.00252	T	.	.	.	0.202	0.48754	.	.	0.338834610459	0.33488	0.5122119881096482	0.51143	0.0594817374573	0.06608	0.613034725189	0.54745	T	0.098101	0.40159	T	-0.156761	0.27259	T	0.0156729	0.71349	D	0.018000829657099	0.00525	T	0.965303	0.87188	D	0.4752594	0.65612	0.45371944	0.68231	0.4752594	0.65612	0.45371944	0.68232	-3.136	0.11714	T	.	.	0.433	0.69480	A	.;.	.;.	4.917033	0.80951	27.4	0.99777325674031891	0.86433	0.97465	0.74925	D	AEFBI	0.773239	0.70732	D	0.672331228217105	0.77820	6.748883	0.658776360877286	0.79266	7.046135	0.999025066292322	0.38237	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.18	4.23	0.49319	6.787000	0.74887	9.819000	0.81792	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.139:0.861:0.0	15.468	0.75149	579	0.69780	.;Uncharacterised domain KLRAQ/TTKRSYEDQ, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	901.98	42	chr2	48495758	.	G	T	901.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=874;ExcessHet=0.0000;FS=0.829;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=-9.520e-01;SOR=0.871	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	20	0	1	0
chr2	48580986	48580986	G	T	exonic	STON1;STON1-GTF2A1L	.	nonsynonymous SNV	STON1-GTF2A1L:NM_001198594:exon1:c.G353T:p.G118V	.	.	432	1026	62	2	0	66	0.0311615	.	.	733507	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.938	D	0.074	N	1.000	N	1.955	M	2.83	T	-1.112	T	0.051	T	0.277	0.527	6.852	1.94	0.306	0.246	9.474	0.030	.	0.0026	0.00778754	0.0054	0.0013	0.0018	0.0001	0.0003	0.0040	0.0037	0.0300	0.0054851	848	154602	rs72824125	0.0049	0.0050	0.0044	0.0055	0.0274	0.0048	0.0048	0.0265	0.0261	0.0008	0.0021	0.0022	7.622e-05	0.0006	0.0149	0.0039	0.0057	0.0274	0.0040	0.0040	0.0036	0.0044	0.0297	0.0037	0.0036	0.0257	0.0242	0.0009	0	0.0058	0.0040	0	0.0003	0.0034	0.0044	0.0104	0.0297	0.002	0.78490	D	0.019	0.62352	D	0.679	0.50421	P	0.186	0.50118	B	0.073959	0.21314	N	0.440845	0.999999	0.08975	N	2.555	0.74557	M	2.67	0.12988	T	-2.11	0.48020	N	0.281	0.31925	-1.1121	0.02895	T	0.051	0.21806	T	10	0.004071653	0.00080	T	.	.	.	0.030	0.07022	.	.	0.461583377977	0.45782	0.30531859660048793	0.32329	0.00635658170257	0.00556	0.266003608704	0.05627	T	0.074824	0.35030	T	-0.530244	0.00383	T	-0.513485	0.20957	T	0.0225075360226289	0.00965	T	0.720328	0.33319	T	0.057194978	0.11353	0.089182906	0.20839	0.057194978	0.11352	0.089182906	0.20839	-2.982	0.09988	T	0.335890859238464	0.43380	0.098	0.26978	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.091475	0.04949	1.519	0.98612776587068196	0.43664	0.28104	0.23462	N	AEFBI	0.125934	0.24266	N	-0.309415810970022	0.28789	1.590911	-0.495834929041824	0.22269	1.20867	0.00737552665866971	0.11451	0.706548	0.73137	0	0.610034	0.51514	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.81	1.94	0.25058	0.279000	0.18532	0.831000	0.21948	0.665000	0.62972	0.005000	0.17040	0.853000	0.27411	0.112000	0.18829	0.0748:0.2703:0.655:0.0	9.474	0.38027	527	0.73864	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	5984.11	167	chr2	48580986	.	G	T	5984.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.835e+00;DP=2384;ExcessHet=0.1072;FS=0.522;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=-1.020e-01;SOR=0.614	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1003	19	0	2	0
chr2	48582144	48582144	T	G	exonic	STON1;STON1-GTF2A1L	.	nonsynonymous SNV	STON1-GTF2A1L:NM_001198594:exon1:c.T1511G:p.F504C	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.765	M	0.87	T	-0.360	T	0.300	T	0.983	3.116	16.41	5.3	2.235	7.858	15.419	0.865	0.0857001824122	.	.	2.471e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs775733027	9.577e-06	9.577e-06	2.722e-06	1.65e-05	0.0002	5.56e-06	4.35e-06	8.885e-05	7.053e-05	0	0	0	0	0	0	0	1.656e-05	0.0002	1.971e-05	1.97e-05	1.284e-05	2.689e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	0	0	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999998	0.81001	D	3.16	0.88528	M	0.87	0.46412	T	-7.96	0.96342	D	0.938	0.94904	-0.3596	0.73275	T	0.300	0.67157	T	10	0.938961	0.93223	D	0.086	0.74586	D	0.865	0.95912	0.801	0.92017	0.669162189216	0.66637	0.8057261779074985	0.85287	0.0109615481323	0.01019	0.641445636749	0.58769	T	0.17117	0.51919	T	0.148949	0.69171	D	0.212847	0.83811	D	0.982244908809662	0.74377	D	0.921408	0.71494	D	0.84484917	0.86957	0.7693355	0.86379	0.84484917	0.86959	0.7693355	0.86380	-9.288	0.69532	D	0.8925097708775046	0.94669	0.899	0.84705	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.549972	0.71601	25.7	0.99310135568564784	0.58980	0.98871	0.87966	D	AEFBI	0.903392	0.85242	D	0.817584777367441	0.87192	9.134089	0.752905422107579	0.86373	8.868697	0.99999969610079	0.74766	0.732398	0.92422	0	0.588015	0.36545	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.3	5.3	0.74745	8.008000	0.88114	7.869000	0.71860	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.761000	0.36181	0.0:0.0:0.0:1.0	15.419	0.74714	527	0.73864	Mu homology domain|Mu homology domain;Mu homology domain|Mu homology domain;Mu homology domain|Mu homology domain;Mu homology domain|Mu homology domain;.;Mu homology domain|Mu homology domain;Mu homology domain|Mu homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2135.98	88	chr2	48582144	.	T	G	2135.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.480e-01;DP=1756;ExcessHet=0.0000;FS=1.025;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.86;ReadPosRankSum=-1.393e+00;SOR=0.598	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1003	20	0	1	0
chr2	53801819	53801819	G	A	exonic	ERLEC1	.	nonsynonymous SNV	ERLEC1:NM_001127397:exon8:c.G856A:p.V286M	.	.	440	1065	16	1	0	18	0.00837989	.	.	2815771	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.26	T	0.049	B	0.019	B	0.005	N	0.664	N	.	.	0.94	T	-1.093	T	0.057	T	0.089	1.783	11.92	4.98	2.827	3.629	2.837	0.073	.	.	0.00239617	0.0012	0	8.642e-05	0	0	0.0001	0	0.0079	0.0009832	152	154602	rs201645542	0.0005	0.0005	0.0003	0.0007	0.0069	0.0005	0.0005	0.0064	0.0062	2.988e-05	0	0	2.52e-05	0	0.0023	0.0001	0.0008	0.0069	0.0003	0.0003	0.0002	0.0003	0.0064	0.0002	0.0002	0.0047	0.0041	2.408e-05	0	0	0	0	0	0.0034	0.0001	0	0.0064	0.25	0.20988	T	0.226	0.25438	T	0.049	0.22227	B	0.006	0.18783	B	0.004704	0.33466	N	0.345743	0.663935	0.33078	D	0	0.06538	N	0.94	0.43672	T	-0.48	0.15379	N	0.187	0.20395	-1.0929	0.05066	T	0.057	0.23791	T	9	0.005412936	0.00119	T	.	.	.	0.073	0.21317	0.238	0.16912	0.349870743963	0.34602	0.29064897459637995	0.28977	0.212721662606	0.23780	0.472177892923	0.34980	T	0.015951	0.13282	T	-0.591881	0.00163	T	-0.618267	0.11321	T	0.050598484669785	0.05605	T	0.864713	0.62218	D	0.041651893	0.06172	0.053116202	0.08886	0.041651893	0.06171	0.053116202	0.08886	-3.748	0.27881	T	.	.	0.095	0.19559	B	.;.;.	.;.;.	3.062489	0.41137	21.3	0.97590612404570942	0.34791	0.93307	0.57867	D	AEFBI	0.455401	0.50770	N	0.0597854067471872	0.44595	2.730574	0.244837737712767	0.52356	3.411023	0.345031189533317	0.19623	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.95	4.98	0.65679	3.133000	0.50225	8.595000	0.77703	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1708:0.0:0.538:0.2912	2.837	0.05177	911	0.21964	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1395.98	33	chr2	53801819	.	G	A	1395.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.25;DP=835;ExcessHet=0.0000;FS=0.692;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=0.289;SOR=0.781	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1182	20	0	1	0
chr2	53813024	53813024	A	C	exonic	ERLEC1	.	nonsynonymous SNV	ERLEC1:NM_001127398:exon10:c.A1015C:p.N339H	.	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.999	D	0.982	D	0.000	D	1.000	N	.	.	3.8	T	-0.432	T	0.280	T	0.658	3.600	18.33	5.77	2.326	8.713	16.395	0.175	0.0826024780415	0.0009	0.000199681	0.0012	0.0003	0.0007	0	0	0.0018	0	0.0010	0.0012225	189	154602	rs139630231	0.0016	0.0016	0.0017	0.0015	0.0020	0.0016	0.0015	0.0019	0.0019	0.0001	0.0005	0	0	0.0002	0.0009	0.0020	0.0011	0.0008	0.0009	0.0009	0.0011	0.0008	0.0016	0.0008	0.0007	0.0014	0.0013	0.0002	0.0077	0.0004	0	0	9.414e-05	0	0.0016	0	0.0008	0.249	0.28271	T	0.156	0.31833	T	0.999	0.77913	D	0.982	0.75477	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.46	0.71463	M	3.8	0.48769	T	-1.95	0.47175	N	0.8	0.84817	-0.4321	0.70998	T	0.280	0.65189	T	9	0.10999063	0.20540	T	0.082602	0.73936	D	0.175	0.44197	.	.	0.531342499125	0.52783	0.7136145514444947	0.71304	0.619018765651	0.56272	0.638254642487	0.58315	T	0.22811	0.59357	T	-0.25062	0.14021	T	-0.138632	0.60236	T	0.0541893295129363	0.06222	T	0.947605	0.79780	D	0.2852898	0.51551	0.26691777	0.52543	0.2852898	0.51550	0.26691777	0.52542	-3.916	0.63377	T	.	.	0.150	0.33249	B	.;.;.	.;.;.	4.223946	0.63913	24.6	0.99126054744599512	0.53116	0.95996	0.67064	D	AEFBCI	0.896859	0.83839	D	0.603790936126484	0.73412	5.962233	0.665339639922427	0.79759	7.150421	0.999994021826585	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.77	5.77	0.91077	8.736000	0.91258	11.277000	0.91602	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.395	0.83423	911	0.21964	.;Protein OS9-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1386.98	35	chr2	53813024	.	A	C	1386.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.637;DP=827;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=-8.220e-01;SOR=0.739	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr2	53853799	53853799	C	T	exonic	GPR75	.	nonsynonymous SNV	GPR75:NM_006794:exon2:c.G958A:p.V320M,	.	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	1.0	D	0.000	D	1.000	D	.	.	-0.75	T	0.152	D	0.602	D	0.845	3.567	18.18	5.4	2.811	7.231	19.359	0.515	.	.	0.00319489	0.0016	0	8.645e-05	0	0	1.498e-05	0.0011	0.0117	0.0014101	218	154602	rs202215281	0.0007	0.0007	0.0004	0.0010	0.0104	0.0006	0.0006	0.0098	0.0096	8.961e-05	2.236e-05	0	2.519e-05	0	0.0003	1.529e-05	0.0007	0.0104	0.0004	0.0004	0.0002	0.0007	0.0120	0.0003	0.0003	0.0095	0.0087	0.0001	0	0	0	0	0	0	1.47e-05	0	0.0120	0.198	0.20532	T	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.695	0.17993	N	-0.75	0.73311	T	-0.09	0.08340	N	0.879	0.87699	0.152	0.85093	D	0.602	0.85855	D	9	0.012266368	0.00264	T	.	.	.	0.515	0.79279	0.749	0.87988	0.578293158758	0.57498	0.6835034547256448	0.68289	0.538872960254	0.51133	0.577518284321	0.49736	T	0.032261	0.22409	T	-0.0801441	0.39693	T	0.12249	0.78399	D	0.0635962845462071	0.07721	T	0.932107	0.74696	D	0.22125143	0.44698	0.18389909	0.41408	0.22125143	0.44698	0.18389909	0.41407	-3.61	0.18002	T	.	.	0.264	0.49826	B	.	.	4.321352	0.66145	24.9	0.99825659326381155	0.90764	0.95198	0.63800	D	AEFBCI	0.813814	0.73619	D	0.74247045569979	0.82414	7.756495	0.748853517288713	0.86073	8.773519	0.999999871573587	0.74766	0.660377	0.49826	0	0.379588	0.06130	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	5.4	5.4	0.77957	7.296000	0.78134	7.576000	0.60835	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.359	0.94417	779	0.47767	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1368.98	38	chr2	53853799	.	C	T	1368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.693;DP=874;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.01;ReadPosRankSum=1.35;SOR=0.702	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1274	20	0	1	0
chr2	53859877	53859877	C	T	exonic	GPR75-ASB3	.	nonsynonymous SNV	GPR75-ASB3:NM_001164165:exon1:c.G52A:p.G18R,	.	.	.	.	.	.	.	.	.	.	.	2390759	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.0	B	0.0	B	.	.	1.000	N	0.895	L	-0.33	T	-0.991	T	0.146	T	0.132	2.478	14.25	-0.318	-0.242	0.391	3.155	0.106	0.0534714456466	.	.	0.0010	0	0	0	0	0	0	0.0017	7.76e-05	12	154602	rs764806211	9.709e-05	9.371e-05	5.866e-05	0.0001	0.0016	8.357e-05	7.8e-05	0.0013	0.0012	3.279e-05	2.827e-05	0	0	0	0.0002	1.858e-06	0.0001	0.0016	5.267e-05	5.25e-05	1.287e-05	9.432e-05	0.0014	2.561e-05	1.833e-05	0.0007	0.0005	0	0	0	0	0	0	0	1.478e-05	0	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999925	0.19486	N	.	.	.	.	.	.	.	.	.	0.321	0.36148	-0.9905	0.32475	T	0.146	0.47003	T	9	0.018829107	0.00413	T	0.053471	0.65483	D	0.106	0.30130	0.279	0.23323	0.165133752707	0.16062	0.4496931854834678	0.44887	0.0613474215631	0.06837	0.711015045643	0.68740	T	.	.	.	-0.408453	0.02035	T	-0.400024	0.33382	T	0.130503325364006	0.15428	T	0.427957	0.11563	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055505	0.26134	17.01	0.99656551114762193	0.77631	0.04177	0.09676	N	AEFDBHCI	0.046954	0.07855	N	-0.97147553691601	0.09217	0.4353011	-1.02720601437644	0.09188	0.4557829	0.99999817199626	0.74766	0.421363	0.06395	0	0.550933	0.16991	0	0.239995	0.05000	1	0.651492	0.60203	0	.	.	2.76	-0.318	0.12098	0.250000	0.18007	1.599000	0.27573	0.460000	0.21577	0.000000	0.06391	0.924000	0.28388	0.873000	0.41610	0.0:0.4845:0.228:0.2875	3.155	0.06111	749	0.51929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	309.98	26	chr2	53859877	.	C	T	309.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.720e-01;DP=654;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=0.655;SOR=0.859	GT:AD:DP:GQ:PL	0/0:31,0:31:81:0,81,1215	20	0	1	0
chr2	54360372	54360376	AACAA	-	exonic	C2orf73	.	frameshift deletion	C2orf73:NM_001369403:exon4:c.311_315del:p.Q105Ffs*8	.	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020	.	8.904e-05	0	0.0001	0	0	0.0001	0	0	3.84e-05	1	26028	rs778682750	4.253e-05	4.309e-05	4.092e-05	4.417e-05	0.0002	3.386e-05	3.073e-05	3.176e-05	2.84e-05	0	9.048e-05	0	0	0	0.0002	4.144e-05	0.0001	4.707e-05	3.944e-05	3.941e-05	5.141e-05	2.691e-05	8.821e-05	1.716e-05	1.13e-05	3.762e-05	2.575e-05	0	0	0	0	0	0	0	8.821e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2050.94	77	chr2	54360371	.	CAACAA	C	2050.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=876;ExcessHet=0.0000;FS=4.277;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.31;ReadPosRankSum=1.07;SOR=1.124	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1065	20	0	1	0
chr2	54646341	54646341	A	C	exonic	SPTBN1	.	nonsynonymous SNV	SPTBN1:NM_178313:exon22:c.A4693C:p.I1565L	.	.	402	1119	1	0	0	1	0.000446628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.0	B	0.002	B	0.001	D	0.962	D	0.37	N	0.94	T	-1.032	T	0.060	T	0.339	1.692	11.62	6.04	2.317	7.279	10.843	0.145	0.00230614389814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.17353	T	0.703	0.06052	T	0.0	0.02946	B	0.002	0.06944	B	0.000578	0.43250	D	0.260506	0.96155	0.38242	D	0.805	0.20218	L	0.94	0.43672	T	0.53	0.02853	N	0.481	0.55453	-1.0325	0.19650	T	0.060	0.25163	T	10	0.30211753	0.47750	T	0.002306	0.04424	T	0.145	0.38592	0.51	0.60693	0.499901089381	0.49625	0.07945207973329803	0.07880	0.35632220145	0.37379	0.495893001556	0.38255	T	0.270472	0.64274	T	-0.124319	0.32420	T	-0.416352	0.31495	T	0.57594864131437	0.35463	D	0.791921	0.47234	T	0.056422353	0.11099	0.061293725	0.11811	0.056422353	0.11099	0.061293725	0.11810	-1.793	0.05006	T	.	.	0.065	0.02927	B	.;.;.	.;.;.	2.691860	0.35142	19.82	0.93646066429826347	0.23528	0.94992	0.63046	D	AEFDBCI	0.871663	0.79318	D	-0.0805591909560225	0.38245	2.237068	0.174576127326665	0.48459	3.061452	0.999999982257131	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.04	6.04	0.98025	7.268000	0.77870	6.149000	0.54167	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.9302:0.0:0.0698:0.0	10.843	0.45931	781	0.47532	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	643.98	34	chr2	54646341	.	A	C	643.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.479e+00;DP=781;ExcessHet=0.0000;FS=1.854;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.36;ReadPosRankSum=0.227;SOR=0.509	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr2	54916834	54916834	G	A	exonic	EML6	.	nonsynonymous SNV	EML6:NM_001039753:exon25:c.G3574A:p.D1192N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.527	P	0.085	B	.	.	0.982	N	2.225	M	1.05	T	-0.958	T	0.126	T	0.119	2.543	14.46	4.8	1.534	2.714	17.144	0.167	0.00809895201272	.	.	.	.	.	.	.	.	.	.	.	.	.	rs972657970	2.86e-06	3.42e-06	1.411e-06	4.35e-06	3.71e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.71e-06	0	0	1.971e-05	1.97e-05	1.285e-05	2.691e-05	4.826e-05	5.24e-06	2.45e-06	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	1.47e-05	0	0	0.124	0.27426	T	0.152	0.32249	T	0.527	0.37646	P	0.085	0.29395	B	.	.	.	.	0.981977	0.24999	N	2.42	0.70002	M	1.05	0.39990	T	-3.12	0.63782	D	0.498	0.53093	-0.9576	0.39626	T	0.126	0.43174	T	9	0.30109063	0.47653	T	0.008099	0.21470	T	0.167	0.42761	.	.	0.260735089382	0.25697	0.5884515333812768	0.58775	0.279803791515	0.30462	0.610818505287	0.54431	T	0.20582	0.56499	T	-0.194347	0.21623	T	-0.516942	0.20605	T	0.936214983463287	0.60504	D	0.865513	0.56452	D	0.18147194	0.39319	0.23908198	0.49247	0.18147194	0.39318	0.23908198	0.49246	-10.177	0.74964	D	.	.	0.106	0.19720	B	.	.	3.670722	0.52193	23.2	0.9980107959391703	0.88550	0.95983	0.67006	D	AEFBI	0.341852	0.43820	N	0.00988720103454968	0.42303	2.546404	0.0333368361447947	0.41274	2.476889	0.536714700807623	0.21219	0.549168	0.22868	0	0.55458	0.17659	0	0.618467	0.43123	0	0.616125	0.45549	0	.	.	5.68	4.8	0.61157	6.629000	0.74129	9.872000	0.82135	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.450000	0.27895	0.0:0.1263:0.8737:0.0	17.144	0.86640	467	0.78285	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1216.98	33	chr2	54916834	.	G	A	1216.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=801;ExcessHet=0.0000;FS=0.728;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=-8.200e-02;SOR=0.794	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	20	0	1	0
chr2	54928320	54928320	A	G	exonic	EML6	.	nonsynonymous SNV	EML6:NM_001039753:exon26:c.A3683G:p.H1228R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.41	B	0.184	B	.	.	0.904	D	-0.295	N	3.68	T	-0.724	T	0.009	T	0.353	1.301	10.26	5.78	2.333	3.380	16.405	0.104	0.00627287944009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.23007	T	0.148	0.32675	T	0.41	0.35064	B	0.184	0.35999	B	.	.	.	.	0.904093	0.36243	D	0.895	0.22405	L	3.68	0.04151	T	-3.98	0.73788	D	0.148	0.15046	-0.7244	0.59244	T	0.009	0.03448	T	9	0.19582486	0.35450	T	0.006273	0.16464	T	0.104	0.29647	0.44	0.49484	0.206339911435	0.20273	0.5437685339188704	0.54302	0.204652363038	0.22886	0.784029603004	0.79537	T	0.174467	0.52370	T	-0.181692	0.23483	T	-0.498764	0.22477	T	0.494912177324295	0.32444	T	0.813119	0.46553	T	0.29780096	0.52706	0.3663138	0.61963	0.29780096	0.52706	0.3663138	0.61963	-7.37	0.56693	T	.	.	0.118	0.24054	B	.	.	2.578010	0.33423	19.33	0.92104708333972818	0.21457	0.93645	0.58787	D	AEFBI	0.466757	0.51427	N	-0.208963543092238	0.32765	1.851541	-0.0404640894266926	0.37906	2.225838	0.999998085265378	0.74766	0.549168	0.22868	0	0.547309	0.14657	0	0.573888	0.23631	0	0.616125	0.45549	0	.	.	5.78	5.78	0.91418	3.348000	0.51923	6.132000	0.53930	0.691000	0.84096	0.997000	0.40164	1.000000	0.68203	0.223000	0.22544	1.0:0.0:0.0:0.0	16.405	0.83500	497	0.76227	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	351.98	36	chr2	54928320	.	A	G	351.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.790;DP=699;ExcessHet=0.0000;FS=6.629;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.51;ReadPosRankSum=-1.144e+00;SOR=2.129	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1168	20	0	1	0
chr2	54973838	54973838	T	C	exonic	RTN4	.	nonsynonymous SNV	RTN4:NM_007008:exon5:c.A481G:p.I161V	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.995	D	0.991	D	0.000	D	1.000	D	-0.795	N	1.17	T	-0.967	T	0.077	T	0.566	0.292	5.580	6.06	2.324	3.066	16.609	0.110	0.00902227382269	0.0002	.	4.125e-05	0	0	0	0	7.5e-05	0	0	4.53e-05	7	154602	rs201008627	5.133e-05	5.13e-05	4.631e-05	5.641e-05	0.0007	4.194e-05	3.825e-05	0.0002	0.0001	0	0	0	0	0	0.0007	6.027e-05	6.626e-05	0	6.572e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.28395	T	1.0	0.09655	T	0.995	0.67487	D	0.991	0.79672	D	0.000000	0.84330	D	0.047876	0.999852	0.51968	D	-0.295	0.03650	N	1.17	0.37910	T	-0.25	0.11008	N	0.264	0.35620	-0.9673	0.37754	T	0.077	0.30828	T	10	0.18791771	0.34323	T	0.009022	0.23750	T	0.221	0.51721	.	.	0.306053231325	0.30222	0.3777184607299535	0.37686	0.211518287228	0.23653	0.722889304161	0.70468	T	0.087757	0.38012	T	-0.206948	0.19810	T	-0.330493	0.41414	T	0.186377035221636	0.19628	T	0.918608	0.70760	D	0.1010498	0.23867	0.1362508	0.32599	0.1010498	0.23867	0.1362508	0.32598	-3.277	0.18773	T	.	.	0.088	0.50500	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.498991	0.70345	25.5	0.86385496419168317	0.16501	0.92115	0.54978	D	AEGBI	0.451454	0.50543	N	0.0777366728182722	0.45425	2.799292	0.26901987038118	0.53740	3.541405	0.999999990566384	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	6.06	6.06	0.98340	4.791000	0.62154	6.224000	0.55156	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.609	0.84711	615	0.66512	.;.;.;Reticulon|Reticulon;.;.;.;.;Reticulon|Reticulon	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1318.98	49	chr2	54973838	.	T	C	1318.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.30;DP=1038;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.56;ReadPosRankSum=0.491;SOR=0.687	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr2	54987672	54987672	T	G	exonic	RTN4	.	nonsynonymous SNV	RTN4:NM_007008:exon2:c.A61C:p.I21L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.978	D	0.895	P	0.000	D	0.992	D	0.855	L	1.01	T	-0.929	T	0.139	T	0.454	2.310	13.68	5.36	2.014	3.937	10.551	0.060	0.0140641122591	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.50676	T	0.294	0.50809	T	0.978	0.58756	D	0.895	0.63489	P	0.000291	0.46274	D	0.230621	0.945785	0.41614	D	0.4	0.12274	N	1.01	0.41058	T	-1.4	0.40082	N	0.383	0.52563	-0.9293	0.44241	T	0.139	0.45734	T	10	0.33208296	0.50420	T	0.014064	0.33919	T	0.095	0.27398	0.548	0.66296	0.522235938266	0.51867	0.34150204473696816	0.34063	0.093094825275	0.10522	0.554489970207	0.46490	T	0.198095	0.55497	T	-0.0867703	0.38608	T	-0.362416	0.37772	T	0.780472278594971	0.45080	D	0.867113	0.58144	D	0.18845615	0.40345	0.15120059	0.35627	0.18845615	0.40344	0.15120059	0.35627	-7.202	0.55496	T	.	.	0.104	0.59494	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.595543	0.72728	25.9	0.96904143068460358	0.31550	0.96894	0.71520	D	AEFGBI	0.710808	0.66445	D	0.0504443349252256	0.44163	2.695408	0.204278733937054	0.50085	3.20424	0.999999414961575	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.36	5.36	0.76624	3.940000	0.56310	5.142000	0.47715	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0756:0.0:0.9244	10.551	0.44276	623	0.65786	.;.;.;Reticulon|Reticulon;.;.;.;.;Reticulon|Reticulon	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	896.98	42	chr2	54987672	.	T	G	896.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.870;DP=830;ExcessHet=0.0000;FS=1.139;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.95;ReadPosRankSum=-4.700e-01;SOR=0.454	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1182	20	0	1	0
chr2	55025659	55025659	G	T	exonic	RTN4	.	nonsynonymous SNV	RTN4:NM_001321859:exon3:c.C1822A:p.L608M	.	.	431	1076	13	2	0	17	0.00783771	.	.	697606	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.855	P	0.459	P	0.001	N	1.000	N	1.87	L	2.2	T	-0.954	T	0.047	T	0.255	-0.526	1.604	-2.7	-0.414	-0.149	8.820	0.084	.	0.0061	0.00379393	0.0054	0.0010	0.0028	0	0.0020	0.0082	0.0055	0.0025	0.0055756	862	154602	rs80121116	0.0079	0.0079	0.0081	0.0078	0.0091	0.0078	0.0078	0.0089	0.0089	0.0009	0.0036	0.0186	0	0.0023	0.0057	0.0091	0.0075	0.0025	0.0056	0.0056	0.0057	0.0055	0.0086	0.0053	0.0051	0.0081	0.0078	0.0016	0.0011	0.0047	0.0239	0	0.0020	0.0034	0.0086	0.0057	0.0010	0.039	0.45393	D	0.122	0.36365	T	0.855	0.47121	P	0.459	0.46380	P	0.000677	0.00662	N	3.669530	1	0.08975	N	2.25	0.63811	M	2.2	0.18724	T	-0.08	0.08187	N	0.205	0.23758	-0.9536	0.40345	T	0.047	0.20275	T	10	0.0038111806	0.00072	T	.	.	.	0.084	0.24469	.	.	0.171388866994	0.16791	0.07742202268788945	0.07678	0.121087646277	0.13643	0.242997542024	0.03067	T	0.200326	0.55787	T	-0.554311	0.00275	T	-0.562325	0.16159	T	0.0115987356139833	0.00176	T	0.582242	0.21661	T	0.06344893	0.13360	0.050419915	0.07911	0.06344893	0.13359	0.050419915	0.07910	-5.777	0.44373	T	.	.	0.09	0.15070	B	.;.;.;.;.	.;.;.;.;.	0.225672	0.06073	2.518	0.89292706127827759	0.18673	0.10869	0.16249	N	AEFBCI	0.096377	0.19456	N	-0.713090422477892	0.15654	0.7907477	-0.911291229989815	0.11827	0.604934	0.999759432413961	0.42595	0.660377	0.49826	0	0.518115	0.08659	0	0.696353	0.63694	0	0.322989	0.05693	1	.	.	5.45	-2.7	0.05651	-0.139000	0.10338	-0.721000	0.07705	-0.227000	0.07798	0.000000	0.06391	0.000000	0.08366	0.459000	0.28096	0.1916:0.3586:0.4498:0.0	8.820	0.34182	625	0.65529	.;.;.;.;.	.	.	.	.	rs80121116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	895.98	34	chr2	55025659	.	G	T	895.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.977;DP=850;ExcessHet=0.0000;FS=0.759;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.05;ReadPosRankSum=-1.140e-01;SOR=0.798	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1243	20	0	1	0
chr2	55025878	55025878	C	T	exonic	RTN4	.	nonsynonymous SNV	RTN4:NM_001321859:exon3:c.G1603A:p.D535N	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.958	D	0.395	B	0.025	N	1.000	N	2.045	M	2.16	T	-0.989	T	0.059	T	0.1	2.571	14.56	5.55	2.587	1.678	10.058	0.072	0.00703845217314	0.0004	0.000399361	0.0008	9.848e-05	0.0003	0	0.0002	0.0004	0.0033	0.0033	0.0006339	98	154602	rs139542847	0.0004	0.0004	0.0003	0.0005	0.0029	0.0004	0.0003	0.0026	0.0025	0	0.0003	0.0004	2.52e-05	3.748e-05	0.0010	0.0002	0.0003	0.0029	0.0004	0.0004	0.0003	0.0005	0.0023	0.0003	0.0003	0.0013	0.0010	7.215e-05	0.0143	0.0002	0.0012	0	0	0	0.0005	0	0.0023	0.002	0.78490	D	0.041	0.52727	D	0.958	0.54977	D	0.395	0.44317	B	0.025235	0.26124	N	0.368624	1	0.81001	D	2.395	0.69210	M	2.15	0.19311	T	-1.15	0.29525	N	0.212	0.23758	-0.9890	0.32853	T	0.059	0.24760	T	10	0.0074137747	0.00169	T	0.007038	0.18649	T	0.072	0.21020	.	.	0.301122078929	0.29733	0.12608950571984048	0.12534	0.0695607986047	0.07787	0.431584775448	0.29425	T	0.133553	0.46430	T	-0.538868	0.00340	T	-0.550187	0.17309	T	0.0668692827382266	0.08205	T	0.829317	0.49436	T	0.13502544	0.31352	0.10702573	0.25758	0.13502544	0.31351	0.10702573	0.25757	-4.144	0.25936	T	.	.	0.149	0.35204	B	.;.;.;.;.	.;.;.;.;.	3.457299	0.48168	22.6	0.99783255176942276	0.86955	0.73037	0.35732	D	AEFDBI	0.105695	0.21112	N	0.450632373206082	0.64239	4.673958	0.490324203198416	0.67348	5.071843	0.999999660890378	0.74766	0.660377	0.49826	0	0.596877	0.49441	0	0.696353	0.63694	0	0.322989	0.05693	1	.	.	5.55	5.55	0.83298	1.727000	0.37717	7.733000	0.67792	0.599000	0.40250	0.990000	0.36992	1.000000	0.68203	1.000000	0.97212	0.0:0.7736:0.15:0.0764	10.058	0.41431	625	0.65529	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2165.98	34	chr2	55025878	.	C	T	2165.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.165e+00;DP=882;ExcessHet=0.0000;FS=1.197;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=0.818;SOR=0.725	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1243	20	0	1	0
chr2	55026751	55026751	T	G	exonic	RTN4	.	nonsynonymous SNV	RTN4:NM_001321859:exon3:c.A730C:p.T244P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.963	D	0.000	D	1.000	D	2.095	M	2.28	T	-0.634	T	0.157	T	0.654	3.029	16.11	3.53	1.084	1.919	11.169	0.129	0.0396443932872	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs201992311	2.737e-06	2.736e-06	2.723e-06	2.75e-06	3.598e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	0	0	1.314e-05	1.313e-05	0	2.69e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.005	0.76473	D	1.0	0.90584	D	0.963	0.70837	D	0.000214	0.47681	D	0.092272	0.730261	0.81001	D	2.215	0.62545	M	1.62	0.28189	T	-1.51	0.42575	N	0.575	0.60410	-0.6338	0.63409	T	0.157	0.49010	T	10	0.41247427	0.56319	T	0.039644	0.58928	D	0.129	0.35316	0.205	0.12076	0.441636318388	0.43783	0.2748800246821005	0.27401	0.205290401865	0.22950	0.383745104074	0.22787	T	0.31629	0.68784	T	0.0128837	0.53419	T	-0.203784	0.54287	T	0.884440898895264	0.53467	D	0.722728	0.34608	T	0.48171145	0.66004	0.6048652	0.77033	0.48171145	0.66005	0.6048652	0.77033	-3.827	0.23083	T	.	.	0.150	0.39511	B	.;.;.;.;.	.;.;.;.;.	3.672981	0.52235	23.2	0.99345063772316666	0.60331	0.90571	0.51857	D	AEFGBI	0.388747	0.46823	N	0.499122081940087	0.67038	5.028759	0.459933874160339	0.65358	4.813634	0.999976634089002	0.50053	0.722319	0.85440	0	0.596877	0.49441	0	0.698795	0.65105	0	0.662433	0.64102	0	.	.	6.06	3.53	0.39533	1.918000	0.39636	2.844000	0.35098	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.3582:0.0:0.0:0.6418	11.169	0.47787	625	0.65529	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2651.98	34	chr2	55026751	.	T	G	2651.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.670e-01;DP=885;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.60;ReadPosRankSum=1.39;SOR=0.726	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1243	20	0	1	0
chr2	55180656	55180656	G	A	exonic	CLHC1	.	nonsynonymous SNV	CLHC1:NM_001353785:exon6:c.C620T:p.T207I	.	.	430	1079	13	0	0	13	0.00598802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.766	P	0.243	B	0.043	N	1.000	N	1.61	L	2.19	T	-1.045	T	0.007	T	0.261	1.642	11.45	3.22	0.862	1.280	4.188	0.025	.	0.0014	0.0107827	0.0051	0.0002	0.0012	0.0398	0.0077	0.0026	0.0110	0.0015	0.0047218	730	154602	rs76870665	0.0033	0.0033	0.0033	0.0034	0.0511	0.0033	0.0032	0.0492	0.0485	0.0002	0.0008	0.0039	0.0511	0.0086	0.0012	0.0016	0.0041	0.0020	0.0032	0.0032	0.0030	0.0034	0.0405	0.0030	0.0029	0.0360	0.0343	7.223e-05	0	0.0013	0.0049	0.0405	0.0072	0	0.0021	0.0043	0.0019	0.464	0.08634	T	0.228	0.25286	T	0.766	0.43754	P	0.243	0.38752	B	0.042740	0.23812	N	0.396846	1	0.18198	N	2.39	0.68882	M	2.18	0.18875	T	-1.62	0.39314	N	0.135	0.13626	-1.0448	0.15884	T	0.007	0.02399	T	10	0.0023792386	0.00035	T	.	.	.	0.025	0.05312	.	.	0.124217242631	0.12060	0.1570814942002049	0.15629	0.00918750411922	0.00832	0.358732521534	0.19201	T	0.002625	0.02014	T	-0.545462	0.00311	T	-0.519051	0.20390	T	0.00917395028099565	0.00116	T	0.734627	0.35069	T	0.06757886	0.14646	0.055721316	0.09825	0.07432854	0.16672	0.045785457	0.06238	-3.39	0.17424	T	0.2534411652156697	0.34282	0.097	0.16626	B	.;.;.	.;.;.	2.016777	0.25627	16.83	0.98784659867986335	0.46190	0.01783	0.05581	N	AEFDHCI	0.064635	0.12563	N	-0.228984072849751	0.31949	1.796694	-0.276013101367932	0.28890	1.61434	0.689165812533894	0.22568	0.638212	0.43195	0	0.667123	0.63270	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	5.98	3.22	0.36041	1.382000	0.33980	3.987000	0.40955	0.613000	0.49114	0.021000	0.19753	0.872000	0.27604	0.997000	0.79791	0.2467:0.0:0.5914:0.1618	4.188	0.09867	466	0.78352	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1667.98	38	chr2	55180656	.	G	A	1667.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.967e+00;DP=906;ExcessHet=0.0000;FS=1.517;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.02;ReadPosRankSum=-1.810e+00;SOR=0.511	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1482	20	0	1	0
chr2	55578332	55578332	-	A	exonic	PPP4R3B	.	frameshift insertion	PPP4R3B:NM_001122964:exon10:c.1478dupT:p.L493Ffs*7,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020	0.0005	0.0030	0.0019	0	0.0007	0	0.0058	0.0002329	36	154602	rs758042879	0.0004	0.0033	0.0003	0.0005	0.0019	0.0004	0.0003	0.0016	0.0015	0.0005	0.0016	0.0006	0.0005	0.0005	0	0.0003	0.0005	0.0019	2.646e-05	8.554e-05	2.584e-05	2.71e-05	7.28e-05	8.18e-06	5.17e-06	1.93e-05	1.035e-05	7.28e-05	0	0	0	0	0	0	1.479e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	44.94	37	chr2	55578332	.	T	TA	44.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.510e-01;DP=780;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.54;ReadPosRankSum=-3.180e-01;SOR=0.660	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,963	20	0	1	0
chr2	55598923	55598923	T	G	exonic	PPP4R3B	.	nonsynonymous SNV	PPP4R3B:NM_001122964:exon4:c.A414C:p.E138D	.	.	436	1067	19	0	0	19	0.0088249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.864	P	0.515	P	0.000	D	1.000	D	1.75	L	0.91	T	-1.033	T	0.116	T	0.646	2.596	14.64	4.7	1.044	3.215	8.111	0.120	0.00890701082331	0.0010	0.000599042	0.0013	0.0003	0.0003	0	0.0011	0.0016	0	0.0026	0.0012678	196	154602	rs142053846	0.0014	0.0014	0.0013	0.0016	0.0116	0.0014	0.0014	0.0094	0.0086	0.0003	0.0004	0.0005	2.519e-05	0.0006	0.0116	0.0014	0.0013	0.0036	0.0010	0.0010	0.0010	0.0010	0.0031	0.0009	0.0008	0.0019	0.0015	0.0005	0	0.0006	0.0003	0	0.0008	0.0068	0.0014	0.0005	0.0031	.	.	.	0.074	0.43721	T	0.254	0.47514	B	0.139	0.48040	B	0.000000	0.84330	D	0.045266	0.999995	0.58761	D	1.565	0.39561	L	.	.	.	.	.	.	0.755	0.79406	-1.0332	0.19427	T	0.116	0.40964	T	10	0.01495111	0.00314	T	0.008907	0.23487	T	.	.	0.294	0.25720	0.0675242888579	0.06100	0.37469004499905845	0.37383	.	.	0.774838447571	0.78149	T	0.346464	0.71472	T	-0.223585	0.17507	T	-0.0966774	0.63655	T	0.0209089633878334	0.00792	T	0.968503	0.88585	D	0.28782153	0.51789	0.23290421	0.48465	0.28782153	0.51789	0.23290421	0.48464	-6.093	0.48952	T	.	.	0.115	0.31857	B	.;.;.	.;.;.	4.427123	0.68622	25.3	0.99318157389194317	0.59279	0.94854	0.62560	D	AEFBI	0.451938	0.50571	N	0.07798259455413	0.45437	2.800244	0.178652505925156	0.48679	3.080571	0.0323152907130871	0.14049	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.85	4.7	0.58776	3.231000	0.50995	5.117000	0.47558	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.2141:0.0:0.7859	8.111	0.30076	333	0.86326	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2903.11	34	chr2	55598923	.	T	G	2903.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.707;DP=853;ExcessHet=0.1072;FS=3.339;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.36;ReadPosRankSum=0.494;SOR=0.947	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1257	19	0	2	0
chr2	55672909	55672909	C	G	exonic	PNPT1	.	nonsynonymous SNV	PNPT1:NM_033109:exon9:c.G850C:p.V284L,	Combined oxidative phosphorylation deficiency 13, Autosomal recessive;Deafness, autosomal recessive 70, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.001	B	0.012	B	0.000	D	1.000	D	0.49	N	0.38	T	-1.050	T	0.117	T	0.58	2.479	14.25	5.77	2.885	4.570	20.363	0.175	0.0123105707603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597	0.05686	T	0.61	0.07691	T	0.001	0.07471	B	0.012	0.16012	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.07	0.27075	L	0.38	0.57575	T	-0.38	0.13418	N	0.572	0.59478	-1.0505	0.14258	T	0.117	0.41363	T	10	0.31811035	0.49214	T	0.012311	0.30768	T	0.175	0.44197	0.394	0.41935	0.415205042976	0.41139	0.4911910135296833	0.49040	0.135733827695	0.15309	0.514081656933	0.40794	T	0.015767	0.13159	T	-0.0209662	0.48717	T	-0.267893	0.48033	T	0.635170102119446	0.37833	D	.	.	.	0.4233349	0.62313	0.31171015	0.57177	0.4233349	0.62313	0.31171015	0.57176	-1.663	0.02134	T	0.08988623713153274	0.05541	0.143	0.31381	B	.	.	2.444385	0.31468	18.75	0.97812776300310422	0.36142	0.98800	0.87016	D	AEFDBIJ	0.639302	0.61741	D	-0.0303406047666719	0.40485	2.405057	0.196315068735688	0.49643	3.165191	0.999999999999931	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.77	5.77	0.91077	4.685000	0.61381	3.312000	0.37472	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:1.0:0.0:0.0	20.363	0.98865	608	0.67185	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1751.98	37	chr2	55672909	.	C	G	1751.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=907;ExcessHet=0.0000;FS=1.893;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.47;ReadPosRankSum=-9.500e-01;SOR=0.888	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1334	20	0	1	0
chr2	55877811	55877811	G	A	exonic	EFEMP1	.	nonsynonymous SNV	EFEMP1:NM_001039349:exon6:c.C695T:p.P232L	Doyne honeycomb degeneration of retina, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.524	P	0.095	B	0.000	D	1.000	D	1.02	L	-2.88	D	-0.072	T	0.544	D	0.644	3.212	16.76	5.65	2.672	4.587	12.995	0.526	0.0496753502423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.729	0.05184	T	0.524	0.37583	P	0.095	0.30245	B	0.000006	0.62929	D	0.000000	0.99999	0.81001	D	1.17	0.29769	L	-2.88	0.91533	D	-5.56	0.86296	D	0.589	0.64393	-0.0718	0.80739	T	0.544	0.83213	D	10	0.6481999	0.69449	D	0.049675	0.63915	D	0.526	0.79947	0.496	0.58520	0.701217672417	0.69863	0.7516994351644962	0.75116	0.546823444238	0.51664	0.717525720596	0.69686	T	0.776201	0.94051	D	0.187434	0.72727	D	0.0314593	0.72373	D	0.911452233791351	0.56703	D	0.89791	0.64303	D	0.289173	0.51915	0.34439006	0.60137	0.289173	0.51915	0.34439006	0.60136	-5.638	0.43138	T	0.21893495882625666	0.29492	0.248	0.48293	B	.;.	.;.	3.874304	0.56268	23.7	0.99782225550073345	0.86867	0.88751	0.48829	D	AEFBCI	0.578180	0.57949	D	0.0758693628920826	0.45338	2.792073	0.24512478889551	0.52371	3.412502	0.999999963558598	0.74766	0.722319	0.85440	0	0.573888	0.26702	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.65	5.65	0.86881	3.993000	0.56699	10.019000	0.83127	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0735:0.0:0.9265:0.0	12.995	0.58046	335	0.86220	EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	946.98	34	chr2	55877811	.	G	A	946.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.72;DP=783;ExcessHet=0.0000;FS=0.794;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.66;ReadPosRankSum=-1.151e+00;SOR=0.817	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	20	0	1	0
chr2	58226763	58226763	G	C	exonic	FANCL	.	nonsynonymous SNV	FANCL:NM_001114636:exon4:c.C238G:p.L80V	Fanconi anemia, complementation group L, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	393060	not_specified|Fanconi_anemia_complementation_group_L|See_cases|Fanconi_anemia	MedGen:CN169374|MONDO:MONDO:0013566,MedGen:C3469528,OMIM:614083,Orphanet:84|.|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.999	D	0.000	D	1.000	D	2.165	M	0.33	T	-0.673	T	0.268	T	0.405	3.489	17.84	3.98	0.801	2.456	10.099	0.193	0.0249510211006	.	0.000199681	0.0002	0	8.694e-05	0	0	9.055e-05	0	0.0007	0.0001488	23	154602	rs563513081	0.0002	0.0002	0.0001	0.0002	0.0016	0.0001	0.0001	0.0008	0.0006	0	0.0002	0	0	0	0.0016	0.0001	0.0002	0.0008	0.0001	0.0001	0.0001	9.443e-05	0.0008	7.111e-05	5.764e-05	0.0003	0.0002	0	0	6.563e-05	0	0	0	0.0035	0.0002	0	0.0008	0.186	0.23007	T	0.273	0.92824	T	0.984	0.90584	D	0.867	0.92359	P	0.000000	0.84330	D	0.000000	0.999629	0.81001	D	2.36	0.67893	M	0.33	0.58323	T	-0.94	0.25770	N	0.562	0.58629	-0.6726	0.61711	T	0.268	0.63950	T	10	0.03964907	0.02472	T	0.024951	0.47933	T	0.193	0.47281	0.467	0.53891	0.438806408302	0.43502	0.5484643878156862	0.54772	0.0231559569802	0.02349	0.485911786556	0.36873	T	0.018978	0.43925	T	-0.290201	0.09617	T	-0.271414	0.47677	T	0.156170187254223	0.17584	T	0.856914	0.54589	D	0.102214575	0.24151	0.095297284	0.22595	0.102214575	0.24150	0.095297284	0.22594	-5.033	0.37197	T	0.3585848567382409	0.45521	0.124	0.32251	B	.;.;.;.	.;.;.;.	3.114497	0.42023	21.5	0.99794639016544773	0.88017	0.92338	0.55481	D	AEFBI	0.414703	0.48386	N	0.210454959020322	0.51706	3.349704	0.246389329544082	0.52445	3.419212	0.737416813894213	0.23154	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.77	3.98	0.45383	2.835000	0.47876	2.609000	0.33566	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.158:0.0:0.842:0.0	10.099	0.41666	761	0.50382	Fanconi anemia complex, subunit FancL, WD-repeat containing domain;Fanconi anemia complex, subunit FancL, WD-repeat containing domain;.;Fanconi anemia complex, subunit FancL, WD-repeat containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1288.98	37	chr2	58226763	.	G	C	1288.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.429;DP=887;ExcessHet=0.0000;FS=0.711;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.83;ReadPosRankSum=-2.700e-02;SOR=0.794	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1372	20	0	1	0
chr2	60787527	60787527	A	G	exonic	PAPOLG	.	nonsynonymous SNV	PAPOLG:NM_022894:exon15:c.A1303G:p.M435V,	.	.	.	.	.	.	.	.	.	.	.	2341001	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.942	P	0.949	D	0.000	D	1.000	D	1.795	L	.	.	-0.421	T	0.319	T	0.898	3.584	18.26	5.41	2.022	6.923	11.237	0.528	0.00674578660019	.	.	8.438e-05	0.0001	0.0004	0	0	7.704e-05	0	0	7.76e-05	12	154602	rs531545418	6.637e-05	6.704e-05	7.216e-05	6.052e-05	0.0004	5.563e-05	5.153e-05	0.0003	0.0002	5.976e-05	0.0004	0	2.52e-05	1.873e-05	0.0002	5.216e-05	6.625e-05	0.0001	5.913e-05	5.91e-05	3.854e-05	8.068e-05	0.0003	3.077e-05	2.21e-05	8.881e-05	5.389e-05	2.412e-05	0	0.0003	0	0	0	0	4.41e-05	0.0005	0	0.101	0.68238	T	0.208	0.63109	T	0.203	0.29776	B	0.114	0.31755	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.835	0.48228	L	.	.	.	-2.54	0.59389	D	0.689	0.69474	-0.4206	0.71373	T	0.319	0.68848	T	9	0.4466288	0.58437	T	0.006746	0.17812	T	0.528	0.80067	0.57	0.69299	0.761725014765	0.75955	0.755533015738392	0.75500	0.828076181443	0.67503	0.793049573898	0.80906	T	0.084432	0.37277	T	0.171351	0.71247	D	0.330323	0.89522	D	0.136609569191933	0.15980	T	0.920508	0.71260	D	0.45826307	0.64563	0.31622043	0.57604	0.45826307	0.64563	0.31622043	0.57603	-8.716	0.65850	D	.	.	0.145	0.54346	B	.;.	.;.	4.403021	0.68047	25.2	0.99429335503709004	0.64179	0.99564	0.97489	D	AEFBI	0.730609	0.67795	D	0.456186003266956	0.64554	4.712672	0.523149522365889	0.69551	5.376545	0.986439182449511	0.31063	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.41	5.41	0.78313	7.022000	0.76169	11.271000	0.91406	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.863:0.0:0.0:0.137	11.237	0.48177	697	0.58201	Poly(A) polymerase, RNA-binding domain;Poly(A) polymerase, RNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	769.98	35	chr2	60787527	.	A	G	769.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=745;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=0.827;SOR=0.643	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1190	20	0	1	0
chr2	60921972	60921972	A	G	exonic	REL	.	nonsynonymous SNV	REL:NM_001291746:exon10:c.A1201G:p.T401A	.	.	431	1067	24	0	0	24	0.0111214	.	.	733528	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.976	N	1.000	N	0	N	1.06	T	-0.984	T	0.040	T	0.066	-0.604	1.305	-3.03	-0.161	-0.335	7.564	0.036	.	.	0.00459265	0.0033	0.0003	0.0005	0	0	0.0005	0.0077	0.0211	0.0028201	436	154602	rs140572082	0.0016	0.0016	0.0009	0.0022	0.0208	0.0015	0.0015	0.0200	0.0197	2.987e-05	0.0003	0	2.519e-05	0	0.0061	0.0003	0.0018	0.0208	0.0009	0.0009	0.0006	0.0012	0.0219	0.0008	0.0007	0.0186	0.0173	9.623e-05	0	0.0001	0	0	0	0.0034	0.0004	0.0009	0.0219	0.931	0.02361	T	0.653	0.06666	T	0.0	0.02946	B	0.001	0.04355	B	0.975791	0.08128	N	0.989793	0.999933	0.19853	N	0.72	0.18721	N	1.06	0.40749	T	-0.55	0.23372	N	0.032	0.03956	-0.9844	0.33975	T	0.040	0.17106	T	10	0.0020952523	0.00030	T	.	.	.	0.036	0.09122	.	.	0.280695755116	0.27685	0.33204263853791494	0.33117	0.0243229922235	0.02469	0.292723655701	0.09320	T	0.079147	0.36059	T	-0.672401	0.00053	T	-0.722377	0.04681	T	0.00769686937979461	0.00090	T	0.536146	0.17993	T	0.0357839	0.04279	0.030290687	0.01466	0.0357839	0.04279	0.030290687	0.01466	-3.865	0.21779	T	.	.	0.068	0.02702	B	.;.	.;.	0.207448	0.05916	2.354	0.24107665710983678	0.01050	0.02465	0.06921	N	AEFDGBI	0.016011	0.00335	N	-1.32432753801039	0.03398	0.1517489	-1.2522205290029	0.05098	0.2421176	0.39373419388631	0.20069	0.67177	0.52595	0	0.702456	0.74545	0	0.679469	0.61720	0	0.635551	0.53088	0	.	.	5.4	-3.03	0.05100	-0.361000	0.07664	-0.706000	0.07772	-0.056000	0.16711	0.014000	0.18986	0.000000	0.08366	0.972000	0.54974	0.3146:0.0:0.5438:0.1415	7.564	0.27033	578	0.69858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1341.98	43	chr2	60921972	.	A	G	1341.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=829;ExcessHet=0.0000;FS=4.261;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.94;ReadPosRankSum=-1.450e-01;SOR=0.929	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1133	20	0	1	0
chr2	61070499	61070499	A	G	exonic	KIAA1841	.	nonsynonymous SNV	KIAA1841:NM_001129993:exon3:c.A149G:p.E50G	.	.	.	.	.	.	.	.	.	0.9972	0.912	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.982	D	0.000	D	1.000	D	0.975	L	0.78	T	-0.679	T	0.218	T	0.809	4.882	28.0	5.8	2.216	8.476	16.160	0.383	0.0718254164303	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1390991886	3.439e-06	4.788e-06	2.737e-06	4.148e-06	0.0005	1.01e-06	7.3e-07	0.0001	7.557e-05	0	0	0	0	0	0.0005	9.014e-07	1.664e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.005	0.72224	D	1.0	0.90584	D	0.96	0.75477	D	0.000000	0.84330	D	0.048803	0.999999	0.58761	D	2.24	0.63355	M	0.78	0.49358	T	-3.06	0.63090	D	0.755	0.75466	-0.6793	0.61405	T	0.218	0.58007	T	10	0.7384215	0.74785	D	0.071825	0.71371	D	0.383	0.70029	0.221	0.14371	0.793874951626	0.79196	0.5774787042657404	0.57676	0.240960108815	0.26630	0.616234183311	0.55196	T	0.091465	0.38801	T	0.149426	0.69213	D	-0.00765093	0.69838	D	0.947219371795654	0.62633	D	0.913109	0.69007	D	0.3024386	0.53122	0.5175108	0.72123	0.3024386	0.53122	0.5175108	0.72123	-13.06	0.89886	D	.	.	0.352	0.56702	A	.;.;.;.	.;.;.;.	5.792068	0.93574	33	0.99915606615305153	0.98379	0.99117	0.91475	D	AEFBI	0.896231	0.83708	D	0.697510166854969	0.79470	7.084216	0.732694339523751	0.84861	8.411431	0.999998466952546	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	8.534000	0.90429	10.993000	0.84699	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	1.0:0.0:0.0:0.0	16.160	0.81506	398	0.82839	SANT/Myb domain;.;SANT/Myb domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1235.98	32	chr2	61070499	.	A	G	1235.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=734;ExcessHet=0.0000;FS=7.773;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.73;ReadPosRankSum=-1.530e-01;SOR=1.765	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1160	20	0	1	0
chr2	61188284	61188284	C	G	exonic	USP34	.	nonsynonymous SNV	USP34:NM_014709:exon80:c.G10459C:p.D3487H,	.	.	.	.	.	.	.	.	.	.	.	719926	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.38	B	0.135	B	0.000	D	1.000	D	0.695	N	3.81	T	-0.928	T	0.150	T	0.331	3.229	16.82	5.52	2.748	2.278	19.804	0.120	.	0.0047	0.00319489	0.0011	0.0122	0.0008	0	0	1.499e-05	0	0	0.001009	156	154602	rs143842551	0.0004	0.0004	0.0005	0.0003	0.0158	0.0004	0.0004	0.0147	0.0142	0.0158	0.0005	0	0	0	0.0007	4.496e-06	0.0008	3.478e-05	0.0042	0.0042	0.0045	0.0040	0.0147	0.0040	0.0039	0.0137	0.0133	0.0147	0	0.0014	0	0	0	0	5.88e-05	0.0033	0	0.005	0.63226	D	0.071	0.92824	T	0.38	0.34363	B	0.135	0.33210	B	0.000035	0.55875	D	0.122835	0.999693	0.48338	D	0.55	0.14455	N	3.81	0.03754	T	-1.6	0.42001	N	0.344	0.38541	-0.9285	0.44357	T	0.150	0.47787	T	10	0.0050117373	0.00108	T	.	.	.	0.120	0.33359	.	.	0.0675242888579	0.06100	0.4683699994929505	0.46755	.	.	0.682400524616	0.64613	T	0.029304	0.21028	T	-0.496044	0.00602	T	-0.474278	0.25056	T	0.0226588667352599	0.00984	T	0.932107	0.74696	D	0.21788193	0.44282	0.23402828	0.48609	0.21788193	0.44282	0.23402828	0.48608	-3.782	0.20536	T	.	.	0.280	0.51323	B	.;.	.;.	3.619823	0.51223	23.1	0.99454489067735019	0.65479	0.91092	0.52844	D	AEFBCI	0.309135	0.41553	N	0.230537505063279	0.52683	3.441033	0.350221540407581	0.58519	4.023061	0.999998913127785	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.52	5.52	0.82153	2.262000	0.42941	7.600000	0.61533	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.804	0.96517	271	0.89373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2299.98	34	chr2	61188284	.	C	G	2299.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.609e+00;DP=902;ExcessHet=0.0000;FS=8.828;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.98;MQRankSum=-1.029e+00;QD=13.14;ReadPosRankSum=-7.350e-01;SOR=0.336	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1210	20	0	1	0
chr2	61278196	61278196	T	C	exonic	USP34	.	nonsynonymous SNV	USP34:NM_014709:exon41:c.A5402G:p.K1801R,	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.956	P	0.899	P	0.000	D	1.000	D	0	N	3.87	T	-0.754	T	0.018	T	0.563	2.802	15.33	5.48	2.086	7.784	14.138	0.210	0.0295439168877	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1275310940	2.738e-06	3.42e-06	1.362e-06	4.128e-06	0.0002	6.4e-07	4.3e-07	9.25e-06	4.57e-06	0	0	0	0	0	0.0002	0	0	3.483e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	0.17881	T	0.389	0.15794	T	0.956	0.54666	P	0.899	0.63802	P	0.000002	0.62929	D	0.100608	0.999839	0.49637	D	0.895	0.22405	L	3.87	0.04014	T	-0.76	0.23372	N	0.626	0.64052	-0.7540	0.57726	T	0.018	0.07518	T	10	0.27412248	0.44964	T	0.029544	0.52036	D	0.210	0.50028	0.312	0.28612	0.165150595986	0.16160	0.290690053592184	0.28982	.	.	0.696317613125	0.66612	T	0.030537	0.21621	T	-0.0817857	0.39425	T	-0.355256	0.38600	T	0.837724328041077	0.49142	D	0.959204	0.85148	D	0.17884491	0.38926	0.15904209	0.37110	0.17884491	0.38926	0.15904209	0.37109	-4.518	0.31123	T	.	.	0.090	0.12465	B	.;.	.;.	3.845521	0.55678	23.6	0.99477594172368244	0.66687	0.98503	0.83469	D	AEFGBI	0.882492	0.81064	D	0.395285995723719	0.61165	4.314108	0.484238090908338	0.66947	5.018586	0.999999980507074	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.798000	0.84489	7.845000	0.70699	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	14.138	0.64833	213	0.91726	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	997.98	33	chr2	61278196	.	T	C	997.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.900e-02;DP=779;ExcessHet=0.0000;FS=0.769;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.60;ReadPosRankSum=0.157;SOR=0.560	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1176	20	0	1	0
chr2	61405958	61405958	G	C	exonic	USP34	.	nonsynonymous SNV	USP34:NM_014709:exon3:c.C302G:p.A101G,	.	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.005	B	0.01	B	.	.	1.000	N	0	N	2.5	T	-0.957	T	0.018	T	0.083	0.857	8.467	1.45	-0.009	0.977	10.676	0.019	.	.	0.00339457	0.0012	0	0.0003	0	0	1.499e-05	0	0.0087	0.001119	173	154602	rs548813943	0.0006	0.0006	0.0003	0.0008	0.0090	0.0005	0.0005	0.0085	0.0083	2.987e-05	2.236e-05	0	0	0	0.0009	4.497e-06	0.0005	0.0090	0.0003	0.0003	0.0002	0.0004	0.0090	0.0002	0.0002	0.0069	0.0061	2.426e-05	0	0	0	0	0	0	1.473e-05	0	0.0090	0.372	0.11478	T	0.158	0.31629	T	0.005	0.12996	B	0.01	0.14941	B	.	.	.	.	0.999995	0.08975	N	0.345	0.11182	N	2.5	0.14408	T	-0.7	0.19933	N	0.085	0.06190	-0.9568	0.39771	T	0.018	0.07518	T	9	0.0020056665	0.00028	T	.	.	.	0.019	0.03383	0.107	0.01868	0.082315109003	0.07666	0.1498691076945297	0.14908	.	.	0.287823438644	0.08605	T	0.027369	0.20056	T	-0.656805	0.00066	T	-0.709125	0.05340	T	0.0079210060760515	0.00093	T	0.548745	0.18852	T	0.025172938	0.01426	0.05161495	0.08343	0.025172938	0.01425	0.05161495	0.08342	-3.362	0.14550	T	.	.	0.075	0.05491	B	.	.	0.562122	0.09308	6.088	0.91803187430162037	0.21109	0.64413	0.32399	D	AEFDGBHI	0.120762	0.23509	N	-0.878701023517203	0.11351	0.5472783	-0.750244207373109	0.15716	0.8279531	0.997565837088977	0.35763	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	6.17	1.45	0.21708	0.966000	0.28929	-0.280000	0.10277	-0.721000	0.03806	0.679000	0.28429	0.000000	0.08366	0.971000	0.54645	0.3009:0.0:0.6991:0.0	10.676	0.44982	152	0.94023	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1594.98	36	chr2	61405958	.	G	C	1594.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.830e-01;DP=827;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=0.027;SOR=0.749	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1163	20	0	1	0
chr2	61826484	61826484	C	T	exonic	FAM161A	.	nonsynonymous SNV	FAM161A:NM_032180:exon6:c.G1954A:p.E652K	Retinitis pigmentosa 28	.	35	1486	1	0	0	1	0.000336361	.	.	177083	not_specified|not_provided|Retinitis_pigmentosa	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.26	T	0.673	P	0.461	P	0.839	U	0.955	D	0.805	L	2.52	T	-1.107	T	0.022	T	0.21	3.831	19.46	4.81	2.864	1.156	9.934	0.127	.	0.0047	0.00479233	0.0019	0.0200	0.0009	0	0	0	0	0	0.0014101	218	154602	rs77562614	0.0005	0.0005	0.0006	0.0004	0.0183	0.0005	0.0005	0.0171	0.0167	0.0183	0.0007	0	0	0	0.0009	6.309e-06	0.0009	8.18e-05	0.0050	0.0050	0.0053	0.0047	0.0178	0.0047	0.0046	0.0167	0.0163	0.0178	0	0.0011	0	0	0	0	0	0.0009	0.0002	0.027	0.48186	D	0.013	0.63109	D	0.666	0.41222	P	0.461	0.46460	P	0.839466	0.09045	U	0.794082	0.954521	0.37881	D	1.1	0.28011	L	2.52	0.26445	T	-1.2	0.30555	N	0.312	0.35194	-1.1075	0.03293	T	0.022	0.09421	T	10	0.0039268434	0.00075	T	.	.	.	0.127	0.34888	.	.	0.381916209588	0.37799	0.05158523472989893	0.05100	0.0395574204048	0.04223	0.401684582233	0.25304	T	0.002449	0.01845	T	-0.533101	0.00368	T	-0.523602	0.19931	T	0.0142939826660636	0.00284	T	0.586341	0.22604	T	0.15534613	0.35114	0.14521988	0.34449	0.17398553	0.38177	0.14388753	0.34178	-4.946	0.36248	T	.	.	0.076	0.05890	B	.;.	.;.	3.471788	0.48438	22.6	0.9960063160864816	0.74160	0.13263	0.17757	N	AEFGBI	0.085860	0.17407	N	-0.0585142513353373	0.39221	2.309572	-0.0111443966212453	0.39210	2.321438	0.070856996527915	0.15545	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.7	4.81	0.61401	1.300000	0.33040	3.747000	0.39671	0.571000	0.28931	0.203000	0.24344	1.000000	0.68203	0.674000	0.33367	0.0:0.9095:0.0:0.0905	9.934	0.40711	204	0.92044	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	947.98	34	chr2	61826484	.	C	T	947.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.069;DP=791;ExcessHet=0.0000;FS=5.612;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=-4.010e-01;SOR=0.964	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1141	20	0	1	0
chr2	61842347	61842347	G	A	exonic	FAM161A	.	nonsynonymous SNV	FAM161A:NM_001201543:exon2:c.C197T:p.T66I	Retinitis pigmentosa 28	.	2	1463	52	5	0	62	0.0207497	.	.	177215	not_specified|not_provided|Retinitis_pigmentosa_28|Retinitis_pigmentosa	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011630,MedGen:C1419614,OMIM:606068,Orphanet:791|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.26	T	0.787	P	0.219	B	.	.	1.000	N	0.55	N	2.68	T	-1.062	T	0.022	T	0.222	2.752	15.16	2.64	0.666	1.182	4.634	0.014	.	0.0046	0.00259585	0.0071	0.0006	0.0059	0.0008	0.0012	0.0085	0.0114	0.0095	0.0031953	494	154602	rs145199539	0.0046	0.0046	0.0043	0.0049	0.0102	0.0045	0.0045	0.0091	0.0089	0.0007	0.0027	0.0112	5.466e-05	0.0004	0.0102	0.0045	0.0061	0.0097	0.0040	0.0040	0.0039	0.0041	0.0101	0.0037	0.0036	0.0079	0.0071	0.0009	0.0011	0.0031	0.0135	0	0.0005	0.0374	0.0058	0.0066	0.0101	0.019	0.50132	D	0.062	0.45318	T	0.011	0.44504	B	0.008	0.37734	B	.	.	.	.	1	0.08975	N	1.39	0.34934	L	2.68	0.24285	T	-2.18	0.49187	N	0.078	0.05287	-1.0619	0.11288	T	0.022	0.09375	T	9	0.0030406117	0.00050	T	.	.	.	0.014	0.01968	.	.	0.363751660372	0.35992	0.14157861444279105	0.14080	0.0714086533322	0.07995	0.338148593903	0.16161	T	0.002975	0.02370	T	-0.530655	0.00381	T	-0.525631	0.19726	T	0.00501362561801803	0.00054	T	0.643236	0.25495	T	0.068116926	0.14811	0.09173052	0.21581	0.07244453	0.16115	0.099932946	0.23875	-3.236	0.12926	T	0.2690281736431292	0.36221	0.118	0.30868	B	.;.	.;.	1.544181	0.19798	14.44	0.98790717046779686	0.46285	0.36536	0.25555	N	AEFBI	0.076526	0.15397	N	-0.372894268626194	0.26438	1.442932	-0.288800390096853	0.28466	1.587427	2.3214731630198E-4	0.06095	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.43	2.64	0.30504	1.342000	0.33524	0.686000	0.20722	0.676000	0.76740	0.076000	0.22236	0.984000	0.30665	0.952000	0.50033	0.2517:0.0:0.5967:0.1516	4.634	0.11902	260	0.89800	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	639.98	34	chr2	61842347	.	G	A	639.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.891;DP=778;ExcessHet=0.0000;FS=3.327;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.41;ReadPosRankSum=-1.402e+00;SOR=1.405	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr2	62874467	62874467	C	A	exonic	EHBP1	.	nonsynonymous SNV	EHBP1:NM_001142614:exon10:c.C1120A:p.P374T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.358	B	0.379	B	0.000	D	1.000	D	1.955	M	-1.01	T	-0.166	T	0.453	T	0.693	2.477	14.24	4.25	1.279	1.322	14.214	0.449	0.0471196662135	.	.	8.249e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs756892360	6.847e-06	7.525e-06	6.812e-06	6.881e-06	0.0002	3.46e-06	2.52e-06	5.411e-05	4.053e-05	0	0	0	0	0	0.0002	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.51248	D	0.037	0.52389	D	0.073	0.33818	B	0.161	0.43814	B	0.000003	0.62929	D	0.058293	0.999959	0.52396	D	1.67	0.42885	L	-1.07	0.76948	T	-3.91	0.73042	D	0.147	0.17002	-0.1656	0.78534	T	0.453	0.78656	T	10	0.1738728	0.32236	T	0.04712	0.62773	D	0.449	0.75004	0.108	0.01928	0.58454684225	0.58127	0.5846210512901352	0.58392	0.114534984635	0.12917	0.455795764923	0.32736	T	0.160733	0.50470	T	0.0630026	0.59990	T	-0.0466476	0.67252	D	0.916989207267761	0.57463	D	0.724128	0.34774	T	0.26635227	0.49705	0.19022498	0.42414	0.26635227	0.49704	0.19022498	0.42413	-5.083	0.42204	T	.	.	0.070	0.10739	B	.;.;.;.	.;.;.;.	2.354741	0.30192	18.36	0.97379714753492752	0.33666	0.89146	0.49438	D	AEFBI	0.257813	0.37648	N	-0.00393458027907768	0.41677	2.497189	0.0944009606790591	0.44267	2.711745	0.729135263375557	0.23023	0.732398	0.92422	0	0.633656	0.55848	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.14	4.25	0.49658	1.369000	0.33832	1.755000	0.28506	-0.180000	0.10397	0.999000	0.42656	0.800000	0.26941	0.986000	0.61781	0.0:0.9263:0.0:0.0737	14.214	0.65323	448	0.79501	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	902.98	33	chr2	62874467	.	C	A	902.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.679e+00;DP=781;ExcessHet=0.0000;FS=1.075;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.42;ReadPosRankSum=0.989;SOR=0.509	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1058	20	0	1	0
chr2	62948717	62948717	G	A	exonic	EHBP1	.	nonsynonymous SNV	EHBP1:NM_001142614:exon13:c.G1871A:p.S624N	.	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.018	B	0.027	B	0.000	N	0.573	D	1.5	L	-0.86	T	-0.551	T	0.268	T	0.127	1.595	11.29	4.22	1.562	2.594	9.318	0.150	0.0163734082483	0.0004	.	0.0005	9.696e-05	0.0018	0	0	0.0005	0.0011	0	0.0003881	60	154602	rs140493234	0.0003	0.0003	0.0003	0.0003	0.0029	0.0002	0.0002	0.0019	0.0015	0.0001	0.0011	0.0019	0	0	0.0029	0.0002	0.0005	0.0002	0.0004	0.0004	0.0003	0.0004	0.0009	0.0003	0.0003	0.0006	0.0004	7.216e-05	0	0.0009	0.0009	0	0	0.0034	0.0005	0.0005	0.0002	0.133	0.28646	T	0.515	0.13403	T	0.004	0.17786	B	0.006	0.21085	B	0.000000	0.84330	N	0.042311	0.572864	0.32309	D	1.52	0.38360	L	-0.88	0.74689	T	-0.92	0.27463	N	0.258	0.29197	-0.5515	0.66730	T	0.268	0.63992	T	10	0.014242977	0.00300	T	0.016373	0.37594	T	0.150	0.39571	.	.	0.420780279148	0.41693	0.2455782241165902	0.24471	0.0945963051	0.10686	0.549833476543	0.45834	T	0.010892	0.09789	T	-0.405789	0.02121	T	-0.406105	0.32674	T	0.0125584370921436	0.00209	T	0.789521	0.43637	T	0.18528767	0.39884	0.15227534	0.35833	0.16819286	0.37261	0.14758891	0.34920	-4.224	0.28664	T	.	.	0.127	0.28807	B	.;.;.;.	.;.;.;.	3.107036	0.41893	21.4	0.97510087117562183	0.34347	0.89153	0.49448	D	AEFBI	0.178244	0.30550	N	-0.088129188631157	0.37913	2.21264	0.0819518579984197	0.43640	2.661697	0.516162326566969	0.21058	0.615465	0.37627	0	0.633656	0.55848	0	0.554053	0.18673	1	0.635551	0.53088	0	.	.	6.03	4.22	0.49153	2.675000	0.46541	3.557000	0.39072	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.268:0.0:0.732:0.0	9.318	0.37108	377	0.83897	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1449.98	34	chr2	62948717	.	G	A	1449.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.130e-01;DP=805;ExcessHet=0.0000;FS=0.701;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=0.156;SOR=0.771	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr2	64552343	64552343	A	T	exonic	AFTPH	.	nonsynonymous SNV	AFTPH:NM_001002243:exon2:c.A869T:p.D290V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.178	B	0.035	B	0.228	N	1.000	N	1.61	L	1.83	T	-1.068	T	0.049	T	0.378	0.344	5.866	4.56	2.333	0.988	5.901	0.066	0.00427403834751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.32929	T	0.089	0.41742	T	0.178	0.28960	B	0.022	0.19653	B	0.228406	0.15976	N	0.619600	0.999964	0.18878	N	2	0.54354	M	1.83	0.24841	T	-2.27	0.50666	N	0.175	0.25499	-1.0684	0.09768	T	0.049	0.20868	T	10	0.08213243	0.13521	T	0.004274	0.10341	T	0.066	0.19193	0.282	0.23801	0.15499578495	0.15088	0.1714498197412902	0.17064	0.13547621356	0.15268	0.249381259084	0.03702	T	0.00506	0.04495	T	-0.136607	0.30432	T	-0.434003	0.29482	T	0.121987623177828	0.14623	T	0.728927	0.34400	T	0.10581762	0.25020	0.10537675	0.25329	0.10581762	0.25020	0.10537675	0.25328	-3.159	0.11986	T	.	.	0.091	0.13221	B	.;.;.	.;.;.	1.588265	0.20318	14.69	0.92783860752449809	0.22300	0.14449	0.18409	N	AEFBI	0.049431	0.08538	N	-0.249418212815048	0.31127	1.742279	-0.134857709827774	0.33996	1.950671	0.989540598585569	0.31860	0.706298	0.61202	0	0.724815	0.89359	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.78	4.56	0.55644	0.967000	0.28941	2.822000	0.34969	0.691000	0.84096	0.325000	0.25546	0.894000	0.27871	0.997000	0.79791	0.7739:0.0:0.0782:0.1479	5.901	0.18208	788	0.46569	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1308.98	33	chr2	64552343	.	A	T	1308.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.670e-01;DP=804;ExcessHet=0.0000;FS=1.506;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=-3.470e-01;SOR=0.551	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1465	20	0	1	0
chr2	65071662	65071662	C	G	exonic	CEP68	.	nonsynonymous SNV	CEP68:NM_001319100:exon3:c.C566G:p.S189C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.948	P	0.443	B	0.392	N	1.000	N	0.55	N	2.43	T	-0.983	T	0.036	T	0.114	2.735	15.10	1.95	0.575	1.329	9.133	0.072	0.00693883964409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.61437	D	0.004	0.74150	D	0.699	0.47190	P	0.35	0.45803	B	0.391600	0.04480	N	1.409480	1	0.18612	N	0.69	0.16971	N	2.42	0.15376	T	-1.97	0.45769	N	0.133	0.15328	-0.9834	0.34211	T	0.036	0.15726	T	10	0.11459336	0.21565	T	0.006939	0.18374	T	0.072	0.21020	0.264	0.20946	0.259761712551	0.25597	0.13873945403852525	0.13796	0.210216258061	0.23503	0.262213468552	0.05157	T	0.040711	0.25618	T	-0.295174	0.09122	T	-0.661774	0.08147	T	0.33893919628058	0.26581	T	0.607039	0.22875	T	0.2900767	0.51999	0.10595651	0.25481	0.2900767	0.51999	0.10595651	0.25480	-5.569	0.42508	T	.	.	0.082	0.10449	B	.;.	.;.	1.521330	0.19533	14.31	0.98204718716872874	0.39158	0.32620	0.24630	N	AEFDBHCI	0.070621	0.14027	N	-0.455312818497417	0.23559	1.266076	-0.567081469198086	0.20354	1.096224	0.999999991997938	0.74766	0.722319	0.85440	0	0.552637	0.17590	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	1.95	0.25130	0.036000	0.13706	-0.384000	0.09521	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6357:0.2776:0.0867	9.133	0.36018	905	0.23532	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2092.98	34	chr2	65071662	.	C	G	2092.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.758;DP=943;ExcessHet=0.0000;FS=1.983;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=0.958;SOR=0.877	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1262	20	0	1	0
chr2	68158467	68158467	A	G	exonic	PNO1	.	nonsynonymous SNV	PNO1:NM_001329916:exon2:c.A295G:p.I99V	.	.	416	1103	3	0	0	3	0.00135808	.	.	2350159	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.79	T	0.0	B	0.004	B	0.000	N	1.000	D	-0.165	N	0.25	T	-1.066	T	0.070	T	0.201	1.147	9.674	1.5	0.204	2.448	9.138	0.066	0.0076070577317	0.0002	0.000199681	0.0002	0.0002	8.639e-05	0.0005	0	0.0002	0.0011	6.061e-05	0.0001488	23	154602	rs371420658	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0008	0.0006	0	8.947e-05	0	0.0006	0	0.0016	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	0.0004	7.084e-05	5.742e-05	7.908e-05	5.993e-05	7.214e-05	0	6.532e-05	0	0.0004	0	0	0.0001	0	0.0002	0.615	0.05388	T	0.783	0.04288	T	0.0	0.02946	B	0.004	0.10090	B	0.000016	0.62929	N	0.180352	0.999866	0.50061	D	0.12	0.08593	N	0.25	0.59449	T	-0.09	0.08340	N	0.166	0.17553	-1.0663	0.10246	T	0.070	0.28642	T	10	0.042579293	0.03022	T	0.007607	0.20192	T	0.066	0.19193	.	.	0.468420198123	0.46471	0.517662783886777	0.51689	0.101963971609	0.11540	0.326930701733	0.14471	T	0.019547	0.15555	T	-0.370099	0.03588	T	-0.460531	0.26542	T	0.0109144320849429	0.00156	T	0.875312	0.58632	D	0.057631608	0.11495	0.053807024	0.09136	0.057631608	0.11495	0.053807024	0.09136	-6.639	0.51350	T	.	.	0.058	0.00705	B	.	.	2.038294	0.25908	16.93	0.88005301001559144	0.17645	0.31866	0.24444	N	AEFGBCI	0.182511	0.30984	N	-0.594302946178142	0.19117	0.9980054	-0.377691627462635	0.25663	1.412716	0.99996186676877	0.48965	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	6.03	1.5	0.22029	2.587000	0.45793	1.999000	0.30113	0.756000	0.94297	1.000000	0.71638	0.998000	0.33993	0.998000	0.85391	0.7107:0.0:0.2893:0.0	9.138	0.36047	943	0.12886	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	705.98	35	chr2	68158467	.	A	G	705.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.64;DP=761;ExcessHet=0.0000;FS=0.911;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.94;ReadPosRankSum=0.294;SOR=0.837	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1227	20	0	1	0
chr2	68380846	68380846	A	C	exonic	PLEK	.	nonsynonymous SNV	PLEK:NM_002664:exon3:c.A322C:p.K108Q,	.	.	429	1073	19	1	0	21	0.00969082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.799	P	0.154	B	0.000	D	0.998	D	0.805	L	2.09	T	-1.064	T	0.031	T	0.301	2.555	14.50	5.8	2.220	5.823	12.643	0.070	.	0.0006	0.00898562	0.0072	0.0004	0.0010	0	0	0.0016	0.0044	0.0448	0.0061642	953	154602	rs34515106	0.0034	0.0034	0.0023	0.0045	0.0416	0.0033	0.0033	0.0404	0.0400	8.964e-05	0.0007	0.0246	7.558e-05	5.616e-05	0.0029	0.0004	0.0047	0.0416	0.0023	0.0023	0.0016	0.0029	0.0414	0.0021	0.0020	0.0367	0.0349	0.0001	0	0.0005	0.0236	0.0002	0	0	0.0007	0.0009	0.0414	0.34	0.12714	T	0.245	0.24054	T	0.546	0.38028	P	0.154	0.34351	B	0.000007	0.62929	D	0.176415	0.998056	0.44459	D	1.445	0.36358	L	2.09	0.20122	T	-0.83	0.22727	N	0.295	0.33360	-1.0637	0.10855	T	0.031	0.13418	T	10	0.004865825	0.00104	T	.	.	.	0.070	0.20419	.	.	0.617017443408	0.61392	0.41767449752869146	0.41683	0.226157206265	0.25167	0.572419404984	0.49020	T	0.146341	0.48389	T	-0.494014	0.00618	T	-0.451693	0.27511	T	0.0243076559245668	0.01183	T	0.948605	0.80233	D	0.24333003	0.47270	0.088147804	0.20533	0.24333003	0.47270	0.088147804	0.20533	-4.34	0.28734	T	.	.	0.121	0.25034	B	.	.	3.326929	0.45779	22.2	0.97958558228684089	0.37158	0.92082	0.54905	D	AEFBCI	0.873794	0.79633	D	0.20340031234684	0.51364	3.318211	0.353056940264651	0.58690	4.041289	0.999999991328986	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.8	5.8	0.92081	5.808000	0.68834	11.185000	0.88454	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.8621:0.1378:0.0:0.0	12.643	0.56079	564	0.70960	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1422.98	42	chr2	68380846	.	A	C	1422.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.17;DP=836;ExcessHet=0.0000;FS=1.677;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.14;ReadPosRankSum=-7.080e-01;SOR=0.876	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr2	68386549	68386549	C	T	exonic	PLEK	.	nonsynonymous SNV	PLEK:NM_002664:exon5:c.C520T:p.R174C,	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.983	D	0.000	D	1.000	D	2.62	M	1.26	T	-0.548	T	0.206	T	0.805	4.538	24.5	5.38	2.517	4.799	19.136	0.427	0.0590445808428	0.0016	0.000998403	0.0022	0.0004	8.679e-05	0	0.0026	0.0032	0.0033	0.0013	0.002031	314	154602	rs140933780	0.0020	0.0020	0.0021	0.0020	0.0022	0.0020	0.0020	0.0022	0.0021	0.0001	0.0002	0.0005	2.519e-05	0.0045	0.0002	0.0022	0.0019	0.0014	0.0016	0.0016	0.0016	0.0015	0.0024	0.0014	0.0013	0.0021	0.0019	0.0003	0	0.0007	0.0009	0	0.0036	0	0.0024	0.0028	0.0017	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.971	0.72444	D	0.000000	0.84330	D	0.047916	1	0.81001	D	2.675	0.78361	M	1.26	0.36330	T	-5.14	0.83292	D	0.83	0.82559	-0.5482	0.66855	T	0.206	0.56444	T	10	0.060203493	0.07359	T	0.059045	0.67528	D	0.427	0.73445	.	.	0.784722066252	0.78273	0.8448214561971074	0.84443	0.389638434514	0.40197	0.587208330631	0.51101	T	0.449741	0.79112	T	-0.174496	0.24559	T	-0.0274193	0.68540	D	0.0754928767894532	0.09401	T	0.964504	0.86839	D	0.7284972	0.79639	0.5726318	0.75248	0.7284972	0.79640	0.5726318	0.75249	-8.572	0.64904	D	.	.	0.511	0.65060	A	.	.	5.208958	0.87404	29.2	0.99935918726773798	0.99621	0.94581	0.61632	D	AEFDGBHCI	0.882009	0.80980	D	0.800551090566323	0.86140	8.790908	0.757816976293164	0.86738	8.987032	0.999999999999977	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.38	5.38	0.77279	4.869000	0.62723	7.584000	0.61047	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.136	0.93413	563	0.71062	DEP domain|DEP domain|DEP domain|Pleckstrin 1, DEP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1249.98	35	chr2	68386549	.	C	T	1249.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.58;DP=819;ExcessHet=0.0000;FS=3.406;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=-1.450e+00;SOR=0.987	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr2	68646218	68646218	G	A	exonic	PROKR1	.	nonsynonymous SNV	PROKR1:NM_138964:exon2:c.G397A:p.G133S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.988	D	0.000	D	1.000	D	1.78	L	1.04	T	-0.722	T	0.234	T	0.99	3.771	19.15	5.21	2.890	9.479	16.671	0.553	0.0180688021447	.	0.000199681	7.523e-05	0	0	0	0	0.0001	0	6.545e-05	7.76e-05	12	154602	rs201334198	5.615e-05	5.609e-05	6.13e-05	5.094e-05	6.571e-05	4.614e-05	4.24e-05	5.34e-05	4.912e-05	2.988e-05	2.238e-05	0	2.521e-05	1.873e-05	0	6.571e-05	4.973e-05	2.323e-05	9.847e-05	9.842e-05	0.0001	5.37e-05	0.0002	6.001e-05	4.876e-05	0.0001	7.894e-05	7.218e-05	0	0	0	0	0	0	0.0002	0	0	0.102	0.30235	T	0.016	0.60972	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.043732	1	0.81001	D	2.505	0.72935	M	1.04	0.40218	T	-4.09	0.74821	D	0.974	0.98657	-0.7220	0.59364	T	0.234	0.60051	T	10	0.8755444	0.86843	D	0.018069	0.40007	T	0.553	0.81544	.	.	0.52468985305	0.52114	0.642854335533403	0.64220	0.655251772955	0.58571	0.649167180061	0.59868	T	0.576296	0.86054	D	0.101489	0.64454	D	0.12334	0.78456	D	0.766633689403534	0.44239	D	0.965203	0.87125	D	0.48192245	0.66017	0.4175482	0.65805	0.48192245	0.66018	0.4175482	0.65805	-3.806	0.20894	T	.	.	0.460	0.65274	A	.;.	.;.	4.496819	0.70292	25.5	0.99847031416941212	0.92663	0.96409	0.68996	D	AEFGBCI	0.913929	0.87661	D	0.725524272527681	0.81305	7.491309	0.674412346247828	0.80439	7.299355	0.999999999999356	0.74766	0.625279	0.40028	0	0.563428	0.19063	0	0.687403	0.62504	0	0.530356	0.10902	0	.	.	5.21	5.21	0.72005	9.879000	0.98499	11.793000	0.96431	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.185000	0.21450	0.0:0.0:1.0:0.0	16.671	0.85124	833	0.38804	.;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3133.98	42	chr2	68646218	.	G	A	3133.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.527;DP=938;ExcessHet=0.0000;FS=1.695;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.31;ReadPosRankSum=-9.620e-01;SOR=0.566	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr2	69400398	69400398	T	C	exonic	NFU1	.	nonsynonymous SNV	NFU1:NM_001002756:exon6:c.A263G:p.Q88R	Multiple mitochondrial dysfunctions syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.84	T	0.653	P	0.618	P	0.000	D	1.000	D	0.055	N	-0.93	T	-0.716	T	0.259	T	0.901	2.081	12.91	5.23	2.193	7.330	14.469	0.609	0.0468569465346	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.12187	T	0.423	0.13993	T	0.536	0.40782	P	0.306	0.51338	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.615	0.15706	N	-0.93	0.75215	T	-3.66	0.70191	D	0.88	0.89020	-0.7164	0.59639	T	0.259	0.62944	T	10	0.67026824	0.70670	D	0.046857	0.62653	D	0.609	0.84666	0.497	0.58678	0.776129731606	0.77406	0.741210768078621	0.74067	0.557939449143	0.52393	0.771020829678	0.77577	T	0.437074	0.82967	T	0.322309	0.84636	D	0.225198	0.84436	D	0.941701471805573	0.61521	D	0.965003	0.92791	D	0.5963247	0.72493	0.5524598	0.74120	0.5963247	0.72494	0.5524598	0.74120	-12.744	0.88281	D	0.3486875914469986	0.44604	0.414	0.61602	A	.;.;.;.;.;.	.;.;.;.;.;.	4.420189	0.68456	25.2	0.97560847122864081	0.34620	0.98256	0.80988	D	AEFBI	0.885692	0.81643	D	0.0721640306074643	0.45168	2.777857	0.234946677686328	0.51796	3.359232	0.999994450267249	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.23	5.23	0.72570	7.480000	0.80148	7.783000	0.68714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.469	0.67080	768	0.49510	NIF system FeS cluster assembly, NifU, C-terminal|NIF system FeS cluster assembly, NifU, C-terminal;.;.;.;NIF system FeS cluster assembly, NifU, C-terminal|NIF system FeS cluster assembly, NifU, C-terminal;NIF system FeS cluster assembly, NifU, C-terminal|NIF system FeS cluster assembly, NifU, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1131.98	34	chr2	69400398	.	T	C	1131.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.468e+00;DP=779;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.01;ReadPosRankSum=1.66;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1217	20	0	1	0
chr2	69479028	69479028	C	T	exonic	AAK1	.	nonsynonymous SNV	AAK1:NM_014911:exon20:c.G2603A:p.C868Y,	.	.	.	.	.	.	.	.	.	.	.	2219746	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.0	B	0.0	B	.	.	1.000	D	0.345	N	1.84	T	-1.090	T	0.036	T	0.192	3.494	17.87	2.91	0.830	2.279	9.121	0.039	0.00560588341433	.	0.000199681	0.0001	0	8.64e-05	0	0	1.499e-05	0	0.0007	9.06e-05	14	154602	rs549137333	5.679e-05	5.678e-05	1.906e-05	9.49e-05	0.0009	4.677e-05	4.302e-05	0.0008	0.0007	0	0	0	0	0	0	0	3.313e-05	0.0009	6.567e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.034	0.44029	D	0.119	0.36101	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	1.04	0.26193	L	1.84	0.24656	T	-1.02	0.26843	N	0.283	0.32037	-1.0903	0.05482	T	0.036	0.15378	T	9	0.025997728	0.00778	T	0.005606	0.14469	T	0.039	0.10176	0.387	0.40788	0.302481332339	0.29867	0.30926497571767264	0.30839	1.15611858945	0.79371	0.499338805676	0.38735	T	0.027884	0.20322	T	-0.487367	0.00672	T	-0.5376	0.18533	T	0.1785999591182	0.19147	T	0.893011	0.63001	D	0.15198296	0.34524	0.20494138	0.44640	0.15198296	0.34523	0.20494138	0.44639	-5.493	0.41803	T	.	.	0.133	0.28636	B	.	.	4.041113	0.59833	24.1	0.99610121132509544	0.74753	0.93295	0.57835	D	AEFBI	0.294067	0.40454	N	-0.278486947641476	0.29980	1.667493	-0.0903711602461156	0.35788	2.074638	0.856442772308085	0.25142	0.554377	0.28877	0	0.624146	0.53433	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.88	2.91	0.32903	2.355000	0.43761	3.609000	0.39247	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.6197:0.2337:0.1466	9.121	0.35950	653	0.62661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1207.98	33	chr2	69479028	.	C	T	1207.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.280e+00;DP=816;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.51;ReadPosRankSum=0.248;SOR=0.690	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1076	20	0	1	0
chr2	69804559	69804559	G	A	exonic	ANXA4	.	nonsynonymous SNV	ANXA4:NM_001153:exon4:c.G124A:p.V42I	.	.	424	1094	4	0	0	4	0.00182482	.	.	2207422	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.008	B	0.009	B	0.021	N	1.000	D	0.21	N	4.97	T	-0.745	T	0.003	T	0.101	0.279	5.508	1.79	0.032	-0.071	8.066	0.017	0.0248904354683	0.0003	0.000199681	0.0003	0.0001	0.0005	0	0	0.0003	0	0.0006	0.0002393	37	154602	rs370762736	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0006	0.0004	0.0001	0.0003	3.827e-05	0	1.873e-05	0.0012	0.0002	0.0002	0.0003	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0003	0.0003	7.229e-05	0	0.0001	0	0.0002	0	0	0.0004	0.0019	0.0006	0.775	0.03335	T	1.0	0.01155	T	0.006	0.14655	B	0.008	0.14300	B	0.021177	0.26887	N	0.409334	0.999971	0.53665	D	.	.	.	4.97	0.01356	T	0.29	0.04161	N	0.212	0.23632	-0.7445	0.58221	T	0.003	0.00994	T	9	0.017463297	0.00373	T	0.02489	0.47875	T	0.017	0.02790	.	.	0.180583059064	0.17676	0.286872516273438	0.28600	0.195282886743	0.21866	0.293666362762	0.09459	T	0.006983	0.06403	T	-0.548456	0.00298	T	-0.728036	0.04416	T	0.0108297043521165	0.00154	T	0.70423	0.31438	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.11654	B	.;.	.;.	-0.210890	0.03035	0.466	0.81262220953059472	0.13599	0.04181	0.09681	N	AEFDBI	0.272538	0.38815	N	-1.12904980472361	0.06132	0.2814314	-1.0464903494489	0.08780	0.4333894	0.999940111912105	0.47345	0.722319	0.85440	0	0.698795	0.70079	0	0.80507	0.99327	0	0.735409	0.98432	0	.	.	5.98	1.79	0.23992	-0.103000	0.10909	1.920000	0.29703	-0.731000	0.03728	0.000000	0.06391	0.979000	0.30280	0.582000	0.30943	0.3689:0.0:0.6311:0.0	8.066	0.29820	584	0.69381	.;Annexin repeat, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2855.98	33	chr2	69804559	.	G	A	2855.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.653e+00;DP=917;ExcessHet=0.0000;FS=0.531;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.65;ReadPosRankSum=0.738;SOR=0.746	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr2	70165566	70165566	A	G	exonic	C2orf42	.	nonsynonymous SNV	C2orf42:NM_001348762:exon6:c.T1214C:p.I405T	.	.	434	1070	17	1	0	19	0.00880037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.0	B	0.0	B	0.007	N	0.999	N	0	N	-3.11	D	-0.556	T	0.477	T	0.227	1.039	9.244	4.78	1.035	3.032	7.926	0.237	0.0231983318661	0.0006	.	0.0006	0.0004	0.0003	0	0.0005	0.0008	0.0011	0.0004	0.0005175	80	154602	rs141556112	0.0005	0.0005	0.0005	0.0005	0.0023	0.0005	0.0005	0.0013	0.0011	5.978e-05	0.0008	0.0038	0	0.0006	0.0023	0.0004	0.0008	0.0005	0.0006	0.0006	0.0006	0.0006	0.0008	0.0005	0.0005	0.0006	0.0005	0.0001	0	0.0008	0.0026	0	0.0008	0.0034	0.0007	0.0009	0.0006	0.312	0.13925	T	0.345	0.17750	T	0.0	0.02946	B	0.0	0.01387	B	0.006684	0.31864	N	0.384634	0.999295	0.21398	N	1.1	0.28011	L	-3.11	0.92721	D	-0.65	0.18877	N	0.263	0.29774	-0.5558	0.66565	T	0.477	0.79951	T	10	0.013486892	0.00286	T	0.023198	0.46147	T	0.237	0.54074	.	.	0.401612077098	0.39776	0.27772408757463524	0.27685	0.365847165232	0.38172	.	.	.	0.001332	0.00808	T	-0.255146	0.13474	T	-0.21339	0.53370	T	0.0138790596904748	0.00264	T	0.820318	0.47908	T	0.083425455	0.19265	0.056905832	0.10251	0.083425455	0.19264	0.056905832	0.10250	-3.156	0.11951	T	.	.	0.091	0.13268	B	.;.	.;.	2.355835	0.30207	18.37	0.89540714906392593	0.18885	0.86786	0.46143	D	AEFBI	0.120944	0.23537	N	-0.35118635961709	0.27229	1.492223	-0.130954576090902	0.34150	1.961153	0.0210036068862418	0.13311	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.96	4.78	0.60666	3.057000	0.49624	4.599000	0.43989	0.756000	0.94297	0.837000	0.30238	1.000000	0.68203	0.998000	0.85391	0.7901:0.1371:0.0729:0.0	7.926	0.29034	428	0.80967	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1051.98	34	chr2	70165566	.	A	G	1051.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.720e-01;DP=775;ExcessHet=0.0000;FS=1.705;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=2.55;SOR=0.529	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1132	20	0	1	0
chr2	70212810	70212810	T	C	exonic	TIA1	.	nonsynonymous SNV	TIA1:NM_001351514:exon11:c.A842G:p.N281S	Welander distal myopathy, Autosomal recessive, Autosomal dominant	.	433	1063	25	1	0	27	0.0125406	.	.	250766	Amyotrophic_lateral_sclerosis_26_with_or_without_frontotemporal_dementia|Welander_distal_myopathy|not_provided|not_specified|TIA1-related_disorder	MONDO:MONDO:0030885,MedGen:C5436882,OMIM:619133|MONDO:MONDO:0011466,MedGen:C0221054,OMIM:604454,Orphanet:603|MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.16	T	0.787	P	0.234	B	0.000	D	1.000	D	1.43	L	2.06	T	-1.132	T	0.042	T	0.153	2.087	12.94	5.88	2.250	2.022	15.114	0.086	.	0.0068	0.00159744	0.0071	0.0011	0.0017	0.0001	0.0062	0.0096	0.0121	0.0082	0.006714	1038	154602	rs116621885	0.0074	0.0074	0.0072	0.0076	0.0097	0.0073	0.0072	0.0091	0.0089	0.0008	0.0018	0.0111	0	0.0062	0.0071	0.0078	0.0075	0.0097	0.0058	0.0058	0.0062	0.0054	0.0098	0.0055	0.0054	0.0092	0.0090	0.0014	0	0.0017	0.0095	0.0004	0.0044	0.0068	0.0098	0.0033	0.0085	0.774	0.28271	T	0.508	0.18018	T	0.224	0.44504	B	0.035	0.38393	B	0.000000	0.84330	D	0.000000	0.999885	0.50402	D	0.69	0.16971	N	1.87	0.24085	T	-0.69	0.20576	N	0.145	0.17966	-1.1318	0.01698	T	0.042	0.18035	T	10	0.008425117	0.00191	T	.	.	.	0.086	0.25016	.	.	0.505014679873	0.50138	0.7826891376531397	0.78219	0.449003188195	0.44711	0.48201584816	0.36334	T	0.19771	0.55447	T	-0.53217	0.00373	T	-0.525526	0.19737	T	0.021698436316006	0.00876	T	0.907309	0.80370	D	0.13183007	0.30715	0.083171055	0.19040	0.100094944	0.23631	0.083171055	0.19040	-3.659	0.20342	T	.	.	0.058	0.00693	B	.;.;.;.	.;.;.;.	2.930871	0.38935	20.8	0.96730909776813989	0.30888	0.81882	0.41199	D	AEFDGBHCI	0.335452	0.43389	N	0.132091676009274	0.47965	3.014956	0.267106633268196	0.53630	3.530868	0.999999989995281	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	5.88	5.88	0.94564	2.023000	0.40660	7.952000	0.75854	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:0.0:0.0:1.0	15.114	0.72058	492	0.76569	.;.;.;RNA recognition motif domain	.	.	.	.	rs116621885	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2643.11	34	chr2	70212810	.	T	C	2643.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.906;DP=880;ExcessHet=0.1072;FS=0.494;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=0.844;SOR=0.755	GT:AD:DP:GQ:PL	0/1:66,63:129:99:1493,0,1744	19	0	2	0
chr2	70812532	70812532	C	G	exonic	CLEC4F	.	nonsynonymous SNV	CLEC4F:NM_001258027:exon5:c.G1454C:p.S485T	.	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.025	B	0.011	B	0.020	N	1.000	N	0.305	N	2.38	T	-1.038	T	0.021	T	0.147	-0.523	1.616	-3.56	-0.580	-0.398	1.104	0.006	.	7.7e-05	0.00339457	0.0025	0	8.637e-05	0	0	0	0.0011	0.0183	0.0020763	321	154602	rs150657543	0.0010	0.0010	0.0005	0.0015	0.0165	0.0010	0.0010	0.0158	0.0155	2.987e-05	2.236e-05	0	2.519e-05	0	0.0007	3.597e-06	0.0008	0.0165	0.0006	0.0006	0.0002	0.0009	0.0182	0.0005	0.0004	0.0151	0.0140	0	0	0	0	0	0	0	0	0	0.0182	0.497	0.07821	T	0.739	0.05018	T	0.025	0.19245	B	0.011	0.15521	B	0.020163	0.01526	N	2.993010	1	0.08975	N	0.65	0.16133	N	2.38	0.15843	T	-0.38	0.13418	N	0.151	0.15749	-1.0377	0.18016	T	0.021	0.08732	T	10	0.0036710203	0.00067	T	.	.	.	0.006	0.00375	.	.	0.220303561663	0.21668	0.068861589618601	0.06824	0.0382572651665	0.04071	0.230391234159	0.01997	T	9.58E-4	0.00501	T	-0.669054	0.00056	T	-0.7202	0.04786	T	0.0124922704954342	0.00206	T	0.0144985	0.00080	T	0.038262382	0.05063	0.029797679	0.01358	0.038262382	0.05063	0.029797679	0.01357	-2.758	0.07803	T	.	.	0.080	0.08129	B	.;.	.;.	-1.391458	0.00366	0.007	0.62723400465126222	0.07036	0.01172	0.04212	N	AEFBI	0.068224	0.13447	N	-1.47769315680555	0.02008	0.08822734	-1.52299202524538	0.02168	0.09929901	0.00248469952547242	0.09470	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.4	-3.56	0.04330	-0.405000	0.07258	-5.526000	0.01687	-3.858000	0.00055	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.1482:0.2891:0.1525:0.4102	1.104	0.01586	886	0.28090	C-type lectin-like|C-type lectin-like|CD209-like, C-type lectin-like domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1997.98	33	chr2	70812532	.	C	G	1997.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.09;DP=892;ExcessHet=0.0000;FS=1.147;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.92;ReadPosRankSum=0.905;SOR=0.606	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1354	20	0	1	0
chr2	70833852	70833852	C	T	exonic	CD207	.	nonsynonymous SNV	CD207:NM_015717:exon3:c.G359A:p.R120H,	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.002	B	0.001	B	0.034	N	1.000	N	1.79	L	1.55	T	-1.059	T	0.065	T	0.073	0.970	8.960	-7.11	-1.825	-2.173	7.974	0.028	.	.	0.00279553	0.0017	0	0	0.0035	0	3e-05	0	0.0103	0.0014489	224	154602	rs180679087	0.0006	0.0006	0.0004	0.0009	0.0090	0.0006	0.0006	0.0084	0.0082	0	0	3.826e-05	0.0024	1.873e-05	0	1.979e-05	0.0006	0.0090	0.0004	0.0004	0.0002	0.0006	0.0085	0.0003	0.0003	0.0064	0.0057	2.404e-05	0	0	0	0.0029	0	0	1.47e-05	0.0005	0.0085	0.219	0.19023	T	0.052	0.47581	T	0.002	0.09854	B	0.001	0.04355	B	0.034217	0.01783	N	1.979650	1	0.08975	N	0.44	0.12706	N	1.55	0.29866	T	-0.34	0.12661	N	0.03	0.00717	-1.0587	0.12083	T	0.065	0.26702	T	10	0.0045823455	0.00095	T	.	.	.	0.028	0.06331	.	.	0.223146558224	0.21909	0.221996401738863	0.22114	0.172064591541	0.19376	0.206225305796	0.00661	T	0.077637	0.35702	T	-0.72375	0.00026	T	-0.805144	0.01777	T	0.0134695702002658	0.00246	T	0.412159	0.10706	T	0.021946222	0.00826	0.02705147	0.00830	0.01786913	0.00311	0.026870823	0.00801	-3.248	0.13076	T	.	.	0.06	0.00934	B	.	.	-0.686578	0.01352	0.076	0.83012497512084971	0.14495	0.00505	0.02373	N	AEFBI	0.037142	0.05061	N	-1.4481561499811	0.02231	0.09830712	-1.59898786722732	0.01661	0.07542883	0.97535209248877	0.29626	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.23	-7.11	0.01389	-1.992000	0.01566	-11.985000	0.00559	-0.879000	0.02478	0.000000	0.06391	0.000000	0.08366	0.052000	0.15357	0.1437:0.2005:0.0:0.6559	7.974	0.29304	876	0.30350	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2597.98	39	chr2	70833852	.	C	T	2597.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.57;DP=1657;ExcessHet=0.0000;FS=3.793;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=0.327;SOR=0.905	GT:AD:DP:GQ:PL	0/0:206,0:206:99:0,120,1800	20	0	1	0
chr2	70921196	70921196	C	T	exonic	VAX2	.	nonsynonymous SNV	VAX2:NM_012476:exon2:c.C346T:p.R116C,	.	.	12	1507	2	1	0	4	0.00132538	.	.	2684500	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.882	P	0.523	P	0.000	D	1.000	D	2.43	M	-3.97	D	0.988	D	0.889	D	0.919	4.559	24.7	5.43	2.547	2.107	16.752	0.860	0.216486708072	0.0002	.	0.0002	0	8.664e-05	0	0	0.0002	0.0011	0.0003	0.0001488	23	154602	rs145436494	7.938e-05	7.935e-05	6.808e-05	9.078e-05	0.0010	6.736e-05	6.269e-05	0.0005	0.0003	2.988e-05	0	3.827e-05	0	1.88e-05	0.0010	6.745e-05	9.936e-05	0.0003	9.849e-05	9.842e-05	6.424e-05	0.0001	0.0010	6.003e-05	4.877e-05	0.0004	0.0003	0	0	0	0	0	0	0	0.0001	0.0005	0.0010	0.006	0.61437	D	0.001	0.83351	D	0.882	0.48483	P	0.523	0.48316	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.035	0.55589	M	-3.97	0.96243	D	-6.0	0.89534	D	0.74	0.74007	0.988	0.96986	D	0.889	0.96322	D	10	0.8256893	0.81750	D	0.216487	0.87561	D	0.860	0.95728	.	.	0.999369179717	0.99936	0.4922512179309445	0.49146	0.308498618732	0.33160	0.528531312943	0.42827	T	0.797918	0.94816	D	0.250576	0.78655	D	0.422483	0.92825	D	0.264684487197718	0.23519	T	0.972503	0.90119	D	0.4977564	0.66963	0.4811754	0.69956	0.4977564	0.66964	0.4811754	0.69956	-11.307	0.81315	D	.	.	0.417	0.60485	A	.	.	5.450569	0.91046	32	0.99940738883005076	0.99797	0.90396	0.51538	D	AEFBI	0.592704	0.58831	D	0.541239083240704	0.69549	5.372938	0.555228828628594	0.71763	5.704477	0.999999113373154	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.43	5.43	0.79006	2.153000	0.41907	3.931000	0.40536	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	16.752	0.85349	724	0.55085	Homeobox domain|Homeobox domain|Homeobox domain|Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2353.98	42	chr2	70921196	.	C	T	2353.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.23;DP=1075;ExcessHet=0.0000;FS=6.662;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.72;ReadPosRankSum=-1.000e-02;SOR=1.194	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1335	20	0	1	0
chr2	70921218	70921218	G	A	exonic	VAX2	.	nonsynonymous SNV	VAX2:NM_012476:exon2:c.G368A:p.R123H,	.	.	7	1511	4	0	0	4	0.00132188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.154	B	0.052	B	0.000	N	1.000	D	1.26	L	-3.98	D	0.446	D	0.778	D	0.504	3.851	19.56	4.55	1.292	6.308	12.266	0.442	0.0580321307399	0.0002	0.000599042	0.0002	0	0.0003	0	0	0.0003	0	0.0002	0.000194	30	154602	rs142434739	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	0.0001	0.0009	0.0007	2.988e-05	0.0003	7.655e-05	0	0	0.0017	0.0001	0.0004	0.0002	0.0003	0.0003	0.0001	0.0004	0.0013	0.0002	0.0002	0.0009	0.0007	4.812e-05	0	0.0013	0	0	0	0	0.0002	0.0014	0	0.057	0.37966	T	0.056	0.46632	T	0.154	0.28120	B	0.052	0.25551	B	0.000005	0.62929	N	0.059173	0.999996	0.58761	D	0.76	0.19266	N	-3.98	0.96277	D	-3.04	0.62863	D	0.484	0.51851	0.446	0.89772	D	0.778	0.92471	D	10	0.10847312	0.20194	T	0.058032	0.67176	D	0.442	0.74518	.	.	0.994733737501	0.99467	0.3417572357766077	0.34088	0.0664129689356	0.07407	0.561388969421	0.47464	T	0.724481	0.92239	D	-0.039736	0.45989	T	0.0156641	0.71348	D	0.0868726372718811	0.10843	T	0.89951	0.64815	D	0.21398084	0.43792	0.17861587	0.40543	0.21398084	0.43792	0.17861587	0.40542	-10.886	0.79029	D	.	.	0.128	0.27222	B	.	.	4.342219	0.66620	25.0	0.99875313892311779	0.95244	0.96578	0.69843	D	AEFBI	0.844367	0.76134	D	0.0383660465749163	0.43607	2.650437	0.191726888616894	0.49392	3.142983	0.999999090568966	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.43	4.55	0.55429	6.426000	0.73301	3.397000	0.38105	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0828:0.0:0.9172:0.0	12.266	0.53996	723	0.55174	Homeobox domain|Homeobox domain|Homeobox domain|Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1885.98	42	chr2	70921218	.	G	A	1885.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.121e+00;DP=1007;ExcessHet=0.0000;FS=2.189;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=0.118;SOR=0.495	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1335	20	0	1	0
chr2	70921265	70921265	C	A	exonic	VAX2	.	nonsynonymous SNV	VAX2:NM_012476:exon2:c.C415A:p.L139M,	.	.	10	1450	61	1	0	63	0.0212622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.055	M	-4.79	D	1.084	D	0.963	D	0.824	3.925	19.97	3.63	0.671	3.055	9.833	0.843	.	0.0018	0.00599042	0.0045	0.0006	0.0012	0.0001	0.0005	0.0023	0.0080	0.0223	0.0040168	621	154602	rs56075602	0.0034	0.0034	0.0028	0.0040	0.0218	0.0033	0.0033	0.0209	0.0206	0.0003	0.0007	0.0008	2.528e-05	0.0005	0.0073	0.0024	0.0038	0.0218	0.0019	0.0019	0.0015	0.0022	0.0199	0.0017	0.0016	0.0167	0.0155	0.0005	0	0.0010	0.0009	0	0.0008	0.0102	0.0020	0.0009	0.0199	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	0.999999	0.58761	D	3.28	0.90206	M	-4.79	0.98155	D	-1.87	0.43717	N	0.835	0.83066	1.084	0.99011	D	0.963	0.98797	D	10	0.012894422	0.00275	T	.	.	.	0.843	0.95101	.	.	0.994496113608	0.99443	0.48373213927814934	0.48293	0.291920001814	0.31603	0.739147901535	0.72847	T	0.708417	0.91663	D	0.072921	0.61203	D	0.349555	0.90297	D	0.0772881118984215	0.09637	T	0.910909	0.68443	D	0.5141345	0.67921	0.46391258	0.68881	0.5141345	0.67922	0.46391258	0.68881	-8.698	0.65733	D	.	.	0.829	0.78671	P	.	.	3.820018	0.55149	23.6	0.99643519408860837	0.76819	0.93748	0.59079	D	AEFBI	0.639393	0.61746	D	0.61188462827725	0.73923	6.046364	0.513243209958108	0.68880	5.281514	0.999775004554386	0.42865	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.43	3.63	0.40741	3.127000	0.50178	2.656000	0.33848	-0.172000	0.11096	1.000000	0.71638	1.000000	0.68203	0.875000	0.41745	0.0:0.8331:0.0:0.1669	9.833	0.40121	723	0.55174	Homeobox domain|Homeobox domain, metazoa|Helix-turn-helix motif|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1542.98	42	chr2	70921265	.	C	A	1542.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.742;DP=986;ExcessHet=0.0000;FS=2.348;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=-1.047e+00;SOR=0.957	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1335	20	0	1	0
chr2	70921270	70921270	C	A	exonic	VAX2	.	nonsynonymous SNV	VAX2:NM_012476:exon2:c.C420A:p.N140K,	.	.	10	1511	1	0	0	1	0.000330797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.563	P	0.432	B	0.000	D	1.000	D	1.49	L	-3.87	D	0.340	D	0.774	D	0.387	3.369	17.36	3.62	1.297	0.416	7.931	0.551	0.292463933518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.743e-06	2.736e-06	0	5.515e-06	0.0003	6.4e-07	4.3e-07	6.115e-05	2.53e-05	0	0	0	0	0	0.0003	9.004e-07	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.36509	T	0.071	0.43531	T	0.563	0.38396	P	0.432	0.45448	B	0.000000	0.84330	D	0.049401	0.999998	0.58761	D	0.72	0.18721	N	-3.87	0.95922	D	-4.0	0.74051	D	0.674	0.68169	0.340	0.88189	D	0.774	0.92318	D	10	0.7728548	0.77222	D	0.292464	0.90610	D	0.551	0.81427	0.395	0.42099	0.996545612156	0.99650	0.44276866868221365	0.44193	0.0902298067989	0.10174	0.791739463806	0.80708	T	0.742196	0.92868	D	0.10581	0.64913	D	-0.0857872	0.64478	T	0.865194737911224	0.51532	D	0.925307	0.72522	D	0.42526823	0.62441	0.4102459	0.65290	0.42526823	0.62441	0.4102459	0.65290	-7.51	0.57681	D	.	.	0.531	0.65985	A	.	.	3.103460	0.41837	21.4	0.9960098956052883	0.74219	0.87582	0.47169	D	AEFBI	0.475383	0.51924	N	-0.118030900735773	0.36608	2.118309	-0.0446073390674474	0.37725	2.212719	0.982612187822348	0.30428	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.43	3.62	0.40616	0.448000	0.21443	2.651000	0.33816	-0.182000	0.10109	0.993000	0.37899	1.000000	0.68203	0.891000	0.42908	0.0:0.7447:0.0:0.2553	7.931	0.29068	723	0.55174	Homeobox domain|Homeobox domain, metazoa|Helix-turn-helix motif|Helix-turn-helix motif|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	996.98	42	chr2	70921270	.	C	A	996.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.854;DP=900;ExcessHet=0.0000;FS=0.883;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=0.445;SOR=0.860	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1335	20	0	1	0
chr2	71149341	71149341	G	A	exonic	MPHOSPH10	.	nonsynonymous SNV	MPHOSPH10:NM_005791:exon10:c.G1784A:p.R595Q,	.	.	436	1051	32	3	0	38	0.017757	.	.	2811988	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.2	T	1.0	D	0.977	D	0.000	N	1.000	D	1.22	L	1.96	T	-1.128	T	0.086	T	0.33	4.739	26.4	3.96	0.915	3.769	11.062	0.177	0.020274678179	0.0022	0.00159744	0.0029	0.0002	0.0037	0.0001	0.0002	0.0039	0.0035	0.0023	0.0025873	400	154602	rs115361918	0.0020	0.0020	0.0018	0.0022	0.0426	0.0019	0.0019	0.0383	0.0366	0.0019	0.0033	0.0123	2.52e-05	0.0001	0.0426	0.0015	0.0042	0.0025	0.0024	0.0024	0.0024	0.0024	0.0054	0.0022	0.0021	0.0045	0.0041	0.0006	0	0.0054	0.0135	0	0	0.0238	0.0026	0.0085	0.0023	0.02	0.49613	D	0.087	0.40747	T	1.0	0.90584	D	0.977	0.73820	D	0.000011	0.62929	N	0.107790	0.999582	0.50061	D	2.755	0.80505	M	1.96	0.22270	T	-1.23	0.31170	N	0.23	0.25867	-1.1283	0.01865	T	0.086	0.33522	T	10	0.007098645	0.00161	T	0.020275	0.42842	T	0.177	0.44549	.	.	0.562875150688	0.55950	0.08509729497497982	0.08443	0.33767179458	0.35753	0.437681108713	0.30261	T	0.006553	0.05980	T	-0.418312	0.01753	T	-0.376703	0.36106	T	0.0518937704265915	0.05829	T	0.836316	0.50742	T	0.162351	0.36306	0.103670575	0.24880	0.162351	0.36306	0.103670575	0.24880	-2.975	0.09914	T	.	.	0.074	0.05103	B	.	.	4.242512	0.64330	24.7	0.99951904555326809	0.99951	0.92353	0.55515	D	AEFBI	0.614299	0.60167	D	0.399904150871398	0.61418	4.342557	0.385913687221664	0.60694	4.260069	0.685508698563358	0.22528	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.75	3.96	0.45097	3.885000	0.55896	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1346:0.0:0.8654:0.0	11.062	0.47169	867	0.32089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	834.98	35	chr2	71149341	.	G	A	834.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=749;ExcessHet=0.0000;FS=0.993;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=-1.690e-01;SOR=0.914	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,964	20	0	1	0
chr2	71349738	71349738	A	G	exonic	ZNF638	.	nonsynonymous SNV	ZNF638:NM_001014972:exon2:c.A784G:p.M262V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.003	B	0.003	B	0.020	N	1.000	N	0.345	N	1.61	T	-0.996	T	0.110	T	0.122	-1.147	0.104	-0.803	-0.369	0.609	4.435	0.088	0.005152678126	0.0008	.	0.0002	0.0011	0	0.0003	0	0.0002	0	6.056e-05	0.000194	30	154602	rs141845828	7.388e-05	7.524e-05	8.303e-05	6.463e-05	0.0003	6.248e-05	5.807e-05	0.0002	0.0001	0.0003	8.944e-05	0	0.0002	0	0.0002	6.295e-05	0.0002	8.115e-05	0.0003	0.0003	0.0004	0.0002	0.0007	0.0002	0.0002	0.0005	0.0004	0.0007	0	0.0002	0	0.0002	0	0	0.0001	0.0009	0.0004	0.728	0.03834	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.019717	0.27197	N	0.445792	0.992187	0.23922	N	0.39	0.12200	N	1.61	0.28391	T	-0.5	0.15782	N	0.093	0.08366	-0.9963	0.30946	T	0.110	0.39604	T	10	0.011181802	0.00246	T	0.005153	0.13094	T	0.088	0.25558	.	.	0.043077524339	0.03247	0.2835251771554072	0.28265	0.0327732097126	0.03426	0.289790689945	0.08891	T	0.017061	0.13986	T	-0.55072	0.00289	T	-0.640552	0.09628	T	0.00270690503933975	0.00028	T	0.780422	0.41514	T	0.04241163	0.06427	0.045878794	0.06271	0.04241163	0.06427	0.045878794	0.06270	-2.156	0.03902	T	.	.	0.054	0.00573	B	.;.;.	.;.;.	0.538588	0.09072	5.855	0.6512794136955391	0.07685	0.30847	0.24187	N	AEFGBI	0.074644	0.14966	N	-0.931876204011314	0.10103	0.4812002	-0.758873985267318	0.15504	0.8157423	0.941487279407786	0.27479	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.84	-0.803	0.10336	0.584000	0.23565	.	.	-0.051000	0.17024	0.835000	0.30208	1.000000	0.68203	0.997000	0.79791	0.5127:0.0:0.3353:0.1521	4.435	0.10971	712	0.56465	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2433.98	34	chr2	71349738	.	A	G	2433.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.13;DP=880;ExcessHet=0.0000;FS=1.854;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=0.628;SOR=0.880	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr2	71526286	71526286	G	C	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130455:exon12:c.G1123C:p.V375L	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	YES	0	1511	10	1	0	12	0.00395517	.	.	100164	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B|not_specified|not_provided|Qualitative_or_quantitative_defects_of_dysferlin	MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.13	T	0.018	B	0.079	B	0.001	D	0.773	D	1.735	L	-1.52	D	-0.450	T	0.294	T	0.056	1.327	10.35	2.23	0.816	2.301	8.100	0.214	.	0.0081	0.00219649	0.0057	0.0019	0.0016	0	0.0092	0.0081	0.0066	0.0025	0.0056856	879	154602	rs150724610	0.0085	0.0085	0.0087	0.0083	0.0101	0.0084	0.0083	0.0100	0.0099	0.0012	0.0020	0.0001	2.519e-05	0.0078	0.0009	0.0101	0.0068	0.0024	0.0061	0.0061	0.0067	0.0055	0.0101	0.0058	0.0056	0.0095	0.0093	0.0014	0.0011	0.0040	0	0	0.0085	0	0.0101	0.0052	0.0029	0.089	0.32929	T	0.092	0.40909	T	0.002	0.17786	B	0.031	0.25434	B	0.000910	0.41128	D	0.212330	0.772638	0.34170	D	0.97	0.24054	L	-1.52	0.81478	D	-1.84	0.44284	N	0.154	0.17966	-0.4504	0.70387	T	0.294	0.66526	T	10	0.007504314	0.00171	T	.	.	.	0.214	0.50650	0.723	0.85761	0.635721508651	0.63273	0.35759641796665004	0.35673	0.160484152637	0.18112	0.478802144527	0.35892	T	0.264942	0.63676	T	-0.455883	0.01042	T	-0.421365	0.30919	T	0.00645475597468689	0.00072	T	0.917608	0.72230	D	0.07233059	0.16083	0.099955626	0.23884	0.0855163	0.19841	0.096285954	0.22870	-6.061	0.50525	T	0.08613788668318835	0.04929	0.223	0.48541	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.940558	0.57659	23.9	0.97828473811411021	0.36246	0.81161	0.40624	D	AEFBI	0.237441	0.35972	N	-0.310802416255865	0.28736	1.587536	-0.237463086190991	0.30205	1.698712	0.999822882834597	0.43622	0.706548	0.73137	0	0.59043	0.45803	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.47	2.23	0.27189	3.148000	0.50343	.	.	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.981000	0.58702	0.3107:0.0:0.6893:0.0	8.100	0.30013	541	0.72942	.;.;.;.;FerIin domain|FerIin domain;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	984.98	35	chr2	71526286	.	G	C	984.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.48;DP=839;ExcessHet=0.0000;FS=3.456;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.46;ReadPosRankSum=0.161;SOR=1.034	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1274	20	0	1	0
chr2	71535087	71535087	A	G	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130455:exon14:c.A1354G:p.M452V	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	.	0	1508	14	0	0	14	0.00462046	0.0161	0.168	266446	Qualitative_or_quantitative_defects_of_dysferlin|Limb-girdle_muscular_dystrophy,_recessive|not_specified|not_provided|Miyoshi_myopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B|Miyoshi_muscular_dystrophy_1	MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|MedGen:CN239352|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130,Orphanet:45448|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130,Orphanet:45448	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.18	T	0.42	B	0.205	B	0.000	N	0.656	D	0.995	L	-0.22	T	-0.735	T	0.135	T	0.243	2.282	13.59	3.64	0.919	4.521	9.494	0.097	0.0353071200105	0.0012	0.00139776	0.0013	0.0004	0.0011	0	0	0.0016	0.0022	0.0021	0.0012678	196	154602	rs141818764	0.0016	0.0016	0.0016	0.0016	0.0018	0.0015	0.0015	0.0017	0.0017	0.0002	0.0012	0.0020	0	0	0.0012	0.0018	0.0016	0.0016	0.0010	0.0010	0.0011	0.0009	0.0023	0.0009	0.0009	0.0013	0.0012	0.0003	0	0.0013	0.0023	0	0	0.0034	0.0015	0.0009	0.0023	0.037	0.43393	D	0.018	0.59732	D	0.001	0.35330	B	0.006	0.37080	B	0.000093	0.51296	N	0.204193	0.534562	0.33008	D	2.125	0.59049	M	-0.22	0.66474	T	-1.99	0.47175	N	0.302	0.44474	-0.7346	0.58730	T	0.135	0.44991	T	10	0.01796338	0.00387	T	0.035307	0.56258	D	0.097	0.27909	.	.	0.590700200879	0.58746	0.50391622055171	0.50313	0.152725938462	0.17232	0.393586605787	0.24173	T	0.376003	0.73949	T	-0.372563	0.03466	T	-0.321167	0.42448	T	0.028368233790925	0.01742	T	0.817418	0.51794	T	0.51351404	0.67884	0.5371858	0.73255	0.585124	0.71888	0.5802731	0.75674	-7.506	0.62033	D	0.187273842424892	0.24411	0.082	0.25882	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.221859	0.43898	21.8	0.97456062147104838	0.34058	0.92784	0.56537	D	AEFBI	0.753686	0.69379	D	-0.187677957809644	0.33646	1.911275	-0.0341875693923052	0.38181	2.245904	0.999990054801985	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	4.84	3.64	0.40864	4.888000	0.62855	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.9117:0.0:0.0883:0.0	9.494	0.38143	530	0.73653	.;.;.;.;C2 domain|C2 domain|C2 domain|Ferlin, third C2 domain;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2180.98	34	chr2	71535087	.	A	G	2180.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.370e-01;DP=911;ExcessHet=0.0000;FS=1.669;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.96;ReadPosRankSum=0.732;SOR=0.743	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1252	20	0	1	0
chr2	71553842	71553842	A	G	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130976:exon20:c.A1924G:p.K642E	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	.	1	1511	8	2	0	12	0.00395517	.	.	192759	not_provided|Distal_myopathy_with_anterior_tibial_onset|DYSF-related_disorder|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B|Miyoshi_muscular_dystrophy_1|Qualitative_or_quantitative_defects_of_dysferlin|Limb-girdle_muscular_dystrophy,_recessive|Miyoshi_myopathy	MedGen:C3661900|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768,Orphanet:178400|.|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130,Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|MedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130,Orphanet:45448	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.967	D	0.000	N	0.999	D	3.01	M	-2.99	D	0.789	D	0.860	D	0.836	4.241	22.1	3.74	0.729	9.299	8.461	0.795	0.523722570094	0.0007	0.000199681	0.0009	0	0.0006	0	0.0010	0.0010	0.0035	0.0016	0.0007956	123	154602	rs139754493	0.0007	0.0007	0.0007	0.0008	0.0019	0.0007	0.0007	0.0016	0.0015	6.121e-05	0.0003	0.0030	2.694e-05	0.0010	0.0018	0.0006	0.0007	0.0019	0.0005	0.0005	0.0004	0.0007	0.0022	0.0004	0.0004	0.0012	0.0009	2.46e-05	0	0.0001	0.0041	0	0.0013	0	0.0006	0.0005	0.0022	0.001	0.78490	D	0.002	0.79402	D	0.989	0.77913	D	0.967	0.71530	D	0.000002	0.62929	N	0.056594	0.999198	0.46300	D	3.75	0.95014	H	-3.01	0.92258	D	-3.56	0.69950	D	0.91	0.95256	0.789	0.94272	D	0.860	0.95325	D	10	0.15630594	0.29441	T	0.523723	0.95485	D	0.795	0.93266	.	.	0.864877026976	0.86356	0.8941909727949634	0.89390	0.741849852607	0.63305	0.829079985619	0.86421	D	0.866485	0.97080	D	0.0964865	0.63910	D	0.358556	0.90647	D	0.199768653032341	0.20403	T	0.999	0.99457	D	0.6643513	0.76131	0.63808805	0.78864	0.6076292	0.73101	0.5962577	0.76558	-12.824	0.89156	D	0.8085370532570579	0.88394	0.948	0.93759	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.266257	0.64870	24.8	0.99862515467484969	0.94093	0.98701	0.85758	D	AEFBI	0.893192	0.83089	D	0.64381830211233	0.75968	6.400886	0.559441468282895	0.72057	5.750167	0.999989336865793	0.51787	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.89	3.74	0.42108	9.315000	0.95389	.	.	0.740000	0.86194	1.000000	0.71638	1.000000	0.68203	0.922000	0.45779	0.9065:0.0:0.0935:0.0	8.461	0.32089	499	0.76092	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1531.98	33	chr2	71553842	.	A	G	1531.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.068e+00;DP=800;ExcessHet=0.0000;FS=5.872;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.30;ReadPosRankSum=-2.380e-01;SOR=0.309	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1347	20	0	1	0
chr2	71569911	71569911	A	T	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130976:exon26:c.A2860T:p.M954L	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	193183	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B|DYSF-related_disorder|Miyoshi_muscular_dystrophy_1|Qualitative_or_quantitative_defects_of_dysferlin|Limb-girdle_muscular_dystrophy,_recessive|Miyoshi_myopathy|not_provided|Distal_myopathy_with_anterior_tibial_onset	MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268|.|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130,Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|MedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130,Orphanet:45448|MedGen:C3661900|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768,Orphanet:178400	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.13	T	0.365	B	0.142	B	0.000	D	0.536	D	1.5	L	-3.26	D	0.595	D	0.695	D	0.405	3.184	16.66	5.21	2.099	4.968	13.333	0.427	0.119357099406	0.0018	0.000399361	0.0015	0.0006	0.0003	0	0.0009	0.0023	0.0011	0.0011	0.0015394	238	154602	rs144636654	0.0019	0.0019	0.0019	0.0019	0.0023	0.0019	0.0018	0.0022	0.0022	0.0003	0.0004	0	0	0.0014	0.0002	0.0023	0.0011	0.0011	0.0011	0.0011	0.0012	0.0011	0.0021	0.0010	0.0010	0.0016	0.0015	0.0001	0.0110	0.0005	0	0	0.0011	0	0.0018	0.0024	0.0021	0.075	0.34444	T	0.072	0.43721	T	0.22	0.34004	B	0.059	0.33681	B	0.000031	0.55875	D	0.179041	0.535949	0.32014	D	1.24	0.30952	L	-3.26	0.93587	D	-1.23	0.31170	N	0.545	0.58629	0.595	0.91837	D	0.695	0.89481	D	10	0.016784072	0.00355	T	0.119357	0.79963	D	0.427	0.73445	0.481	0.56142	0.728666893031	0.72625	0.3870414648326476	0.38619	0.183762377744	0.20665	0.661811113358	0.61669	T	0.216928	0.57923	T	-0.199729	0.20844	T	-0.0655313	0.65942	T	0.0104503878400541	0.00144	T	0.788521	0.42806	T	0.4309394	0.62813	0.37394166	0.62571	0.4560806	0.64427	0.41085327	0.65334	-9.462	0.71039	D	0.2181223142002124	0.29367	0.228	0.48029	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.956671	0.58003	23.9	0.967557018203686	0.30980	0.94170	0.60325	D	AEFDBI	0.738059	0.68306	D	0.0893388028369319	0.45966	2.844448	0.234044868793907	0.51747	3.354553	0.998542344303848	0.37167	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.21	5.21	0.72005	4.955000	0.63343	.	.	0.741000	0.86335	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	13.333	0.59943	459	0.78817	.;.;.;.;Peroxin/Ferlin domain;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1352.98	34	chr2	71569911	.	A	T	1352.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=834;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.40;ReadPosRankSum=0.811;SOR=0.703	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1243	20	0	1	0
chr2	71611531	71611531	G	A	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130976:exon37:c.G4030A:p.V1344M	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	274011	Qualitative_or_quantitative_defects_of_dysferlin|not_provided	MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.16	T	0.998	D	0.944	D	0.001	D	0.596	N	1.7	L	-1.64	D	0.116	D	0.584	D	0.5	3.054	16.19	4.65	2.623	0.451	8.921	0.337	0.0453792384051	.	.	3.306e-05	0.0003	0	0	0	0	0	6.064e-05	2.59e-05	4	154602	rs760627822	9.577e-06	9.577e-06	5.445e-06	1.375e-05	0.0002	5.56e-06	4.35e-06	7.712e-05	5.305e-05	0.0002	0	0	0	0	0	2.698e-06	3.311e-05	3.478e-05	9.857e-05	9.85e-05	0.0001	9.417e-05	0.0003	6.007e-05	4.88e-05	0.0002	0.0002	0.0003	0	6.543e-05	0	0	0	0	0	0	0	0.03	0.47745	D	0.121	0.35970	T	0.773	0.73220	P	0.684	0.68059	P	0.000687	0.42383	D	0.213647	0.596244	0.30978	N	1.735	0.44892	L	-1.64	0.82533	D	-1.16	0.31170	N	0.343	0.38438	0.116	0.84467	D	0.584	0.85065	D	10	0.10851392	0.20203	T	0.045379	0.61950	D	0.337	0.65913	0.355	0.35571	0.708104668759	0.70556	0.26632240090384257	0.26545	0.317531606401	0.33995	0.375653922558	0.21639	T	0.328518	0.69892	T	-0.172646	0.24836	T	-0.169614	0.57478	T	0.0708741498580236	0.08773	T	0.949805	0.86758	D	0.04992539	0.08942	0.06979601	0.14751	0.04992539	0.08941	0.06979601	0.14750	-7.092	0.54760	T	0.15796580943923333	0.19110	0.121	0.27403	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.786829	0.36622	20.3	0.99870659767479808	0.94815	0.28211	0.23491	N	AEFDBI	0.222288	0.34681	N	0.0899631071307268	0.45997	2.84692	0.0508283679642014	0.42112	2.541525	0.999675964918767	0.41644	0.706548	0.73137	0	0.547309	0.14657	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.54	4.65	0.57626	0.475000	0.21874	.	.	0.676000	0.76740	0.058000	0.21700	0.917000	0.28245	0.742000	0.35507	0.1689:0.0:0.8311:0.0	8.921	0.34772	428	0.80967	.;.;.;.;C2 domain|C2 domain;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2483.98	35	chr2	71611531	.	G	A	2483.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.190e-01;DP=998;ExcessHet=0.0000;FS=0.517;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=1.08;SOR=0.623	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1289	20	0	1	0
chr2	71681053	71681053	G	A	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130976:exon52:c.G5957A:p.R1986Q	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	.	0	1518	4	0	0	4	0.00131579	.	.	272053	Miyoshi_muscular_dystrophy_1|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B|not_provided|Qualitative_or_quantitative_defects_of_dysferlin|DYSF-related_disorder|Primary_dilated_cardiomyopathy|not_specified	MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130,Orphanet:45448|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|.|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.999	D	0.000	D	1.000	D	1.9	L	-1.74	D	0.366	D	0.689	D	0.747	5.305	34	5.92	2.804	7.916	17.815	0.734	0.182813210755	7.7e-05	0.000798722	0.0003	9.762e-05	0.0003	0	0.0002	0.0004	0.0011	0.0003	0.0003105	48	154602	rs115407852	0.0002	0.0002	0.0002	0.0002	0.0052	0.0002	0.0002	0.0037	0.0033	0.0003	0.0005	0.0002	0	0	0.0052	0.0002	0.0004	0.0003	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0001	0.0002	0.0002	4.811e-05	0	0.0003	0	0	0	0.0068	0.0003	0.0009	0.0004	0.003	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.992	0.92359	D	0.000000	0.84330	D	0.000000	0.999852	0.49910	D	3.105	0.87672	M	-1.74	0.83413	D	-3.29	0.65742	D	0.875	0.92550	0.366	0.88577	D	0.689	0.89261	D	10	0.55206025	0.64311	D	0.182813	0.85645	D	0.734	0.90721	.	.	0.856121452604	0.85473	0.8003969803646807	0.79993	0.684356733275	0.60216	0.498260140419	0.38585	T	0.872279	0.97251	D	0.0409565	0.57170	T	0.155205	0.80512	D	0.252051460036843	0.22964	T	0.987601	0.95770	D	0.8588213	0.87996	0.68785614	0.81639	0.81976295	0.85205	0.6852142	0.81493	-5.625	0.43020	T	0.7333304895901095	0.81509	0.215	0.44809	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.880106	0.80021	27.2	0.99955153474776592	0.99969	0.98047	0.79151	D	AEFDBI	0.945882	0.95469	D	0.843869428047154	0.88756	9.699652	0.853233525247911	0.93203	11.89018	0.999999788427813	0.74766	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	8.041000	0.89198	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	17.815	0.88542	610	0.67008	.;.;.;.;Ferlin, C-terminal domain;.;.;.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1986.98	35	chr2	71681053	.	G	A	1986.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.71;DP=881;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=-5.900e-01;SOR=0.728	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,117,1755	20	0	1	0
chr2	71682612	71682612	A	G	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130976:exon53:c.A6097G:p.I2033V	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	.	0	1513	8	1	0	10	0.00329381	.	.	100253	Miyoshi_myopathy|Qualitative_or_quantitative_defects_of_dysferlin|not_provided|Limb-girdle_muscular_dystrophy,_recessive|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B|Miyoshi_muscular_dystrophy_1	MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130,Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|MedGen:C3661900|MedGen:CN239352|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130,Orphanet:45448	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.22	T	0.861	P	0.719	P	0.000	D	0.968	D	1.5	L	-1.96	D	-0.004	T	0.552	D	0.279	3.331	17.21	3.86	2.034	1.614	9.250	0.287	0.0376093905226	0.0002	0.000998403	0.0004	0.0002	0.0008	0	0	0.0002	0	0.0013	0.0003687	57	154602	rs150834671	0.0004	0.0004	0.0004	0.0004	0.0019	0.0004	0.0004	0.0011	0.0010	5.974e-05	0.0005	0	0	0	0.0019	0.0004	0.0003	0.0013	0.0002	0.0002	0.0003	0.0001	0.0010	0.0002	0.0001	0.0004	0.0003	9.641e-05	0	0.0005	0	0	0	0	0.0003	0	0.0010	0.009	0.58626	D	0.09	0.42436	T	0.861	0.47410	P	0.672	0.54822	P	0.000130	0.49741	D	0.200820	0.945508	0.38651	D	2.37	0.68279	M	-1.97	0.85173	D	-0.73	0.20576	N	0.313	0.36043	-0.0037	0.82179	T	0.552	0.83611	D	10	0.0332371	0.01495	T	0.037609	0.57720	D	0.287	0.60574	.	.	0.682595736848	0.67989	0.5128477279156468	0.51206	0.125644526005	0.14166	0.451496750116	0.32149	T	0.618363	0.88002	D	-0.271249	0.11618	T	-0.207958	0.53891	T	0.0358344118829158	0.02951	T	0.881912	0.60169	D	0.11803938	0.27819	0.16269685	0.37779	0.11803938	0.27818	0.16269685	0.37778	-6.71	0.51886	T	0.2355381310636637	0.31893	0.085	0.09965	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.201725	0.43545	21.8	0.99855697884841543	0.93458	0.94693	0.62006	D	AEFDBI	0.641005	0.61849	D	0.188791092334703	0.50661	3.254016	0.243024779817554	0.52254	3.401438	0.999102726669899	0.38452	0.706548	0.73137	0	0.59043	0.45803	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.1	3.86	0.43689	1.672000	0.37139	.	.	0.756000	0.94297	0.982000	0.35529	1.000000	0.68203	0.998000	0.85391	0.8383:0.0:0.0:0.1617	9.250	0.36707	643	0.63827	.;.;.;.;Ferlin, C-terminal domain;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2370.98	34	chr2	71682612	.	A	G	2370.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.286;DP=941;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.80;ReadPosRankSum=1.02;SOR=0.692	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1291	20	0	1	0
chr2	72135320	72135320	C	T	exonic	CYP26B1	.	nonsynonymous SNV	CYP26B1:NM_001277742:exon2:c.G304A:p.E102K	Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies	.	0	1508	14	0	0	14	0.00462046	.	.	2142868	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.42	T	0.069	B	0.046	B	0.000	D	1.000	D	0.44	N	-0.33	T	-0.921	T	0.171	T	0.578	3.536	18.05	5.03	2.504	7.818	17.309	0.178	0.0168708821212	.	0.000399361	0.0002	0	8.643e-05	0.0009	0	0.0001	0.0011	0.0008	0.0002135	33	154602	rs201533354	0.0003	0.0003	0.0002	0.0003	0.0012	0.0002	0.0002	0.0010	0.0009	5.974e-05	0.0001	0	0.0009	0	0.0009	0.0002	0.0002	0.0012	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	9.231e-05	0.0005	0.0004	0	0	0	0	0.0006	0	0.0068	0.0002	0	0.0012	0.181	0.25979	T	0.2	0.31833	T	0.038	0.21002	B	0.046	0.24676	B	0.000004	0.62929	D	0.103713	0.999755	0.81001	D	1.395	0.35261	L	-0.33	0.68329	T	-0.74	0.20791	N	0.604	0.65416	-0.9209	0.45431	T	0.171	0.51197	T	10	0.061003387	0.07582	T	0.016871	0.38326	T	0.178	0.44724	.	.	0.76633401229	0.76419	0.6169291788472614	0.61624	0.509482412268	0.49079	0.647366881371	0.59611	T	0.093796	0.39285	T	-0.226625	0.17097	T	-0.187463	0.55829	T	0.0887437599528497	0.11067	T	0.929807	0.74042	D	0.32108235	0.54731	0.23576799	0.48830	0.32108235	0.54731	0.23576799	0.48829	-5.021	0.37067	T	.	.	0.088	0.11749	B	.;.;.;.	.;.;.;.	4.130489	0.61802	24.4	0.99813196290110684	0.89708	0.98581	0.84338	D	AEFDBI	0.906502	0.85936	D	-0.0195049013959334	0.40974	2.44262	0.192337846663805	0.49425	3.145944	0.999999948659284	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	5.03	5.03	0.67015	7.905000	0.86479	7.697000	0.66086	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	17.309	0.87091	920	0.19381	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2757.11	35	chr2	72135320	.	C	T	2757.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.00;DP=897;ExcessHet=0.1072;FS=0.526;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=0.862;SOR=0.775	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1466	19	0	2	0
chr2	73079688	73079688	C	A	exonic	RAB11FIP5	.	stopgain	RAB11FIP5:NM_001371272:exon4:c.G3544T:p.E1182X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.450121	0.98939	41	0.86384216818255721	0.16500	0.97947	0.78343	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999999763820501	0.74766	0.295142	0.05270	0	0.059962	0.00310	0	0.129117	0.03641	0	0.322829	0.05601	0	0.980713	0.86072	4.83	4.83	0.61880	5.141000	0.64655	7.584000	0.61047	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	17.023	0.86313	566	0.70798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	32.07	89	chr2	73079688	.	C	A	32.07	.	AC=2;AF=0.053;AN=38;DP=89;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2677;MLEAC=1;MLEAF=0.026;MQ=60.00;QD=16.03;SOR=0.693	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,34	18	1	0	2
chr2	73080498	73080498	T	-	exonic	RAB11FIP5	.	frameshift deletion	RAB11FIP5:NM_001371272:exon4:c.2734delA:p.R912Dfs*14,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	41.21	6	chr2	73080497	.	CT	C	41.21	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.660e-01;DP=117;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0860;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.89;ReadPosRankSum=-1.068e+00;SOR=0.446	GT:AD:DP:GQ:PL	0/0:6,0:6:15:0,15,225	20	0	1	0
chr2	73081099	73081101	TCC	-	exonic	RAB11FIP5	.	nonframeshift deletion	RAB11FIP5:NM_001371272:exon4:c.2131_2133del:p.G712del,	.	.	481	755	173	66	47	352	0.168044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	1438.94	11	chr2	73081095	.	TTCCTCC	T,TTCC	1438.94	.	AC=6,2;AF=0.143,0.048;AN=42;BaseQRankSum=0.812;DP=242;ExcessHet=3.5521;FS=2.847;InbreedingCoeff=-0.2414;MLEAC=6,2;MLEAF=0.143,0.048;MQ=60.00;MQRankSum=0.00;QD=16.54;ReadPosRankSum=0.180;SOR=0.993	GT:AD:DP:GQ:PL	0/0:9,0,0:9:27:0,27,299,27,299,299	13	0	6	0
chr2	73218961	73218961	G	A	exonic	SMYD5	.	nonsynonymous SNV	SMYD5:NM_006062:exon2:c.G197A:p.R66H,	.	.	434	1078	10	0	0	10	0.00461681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.001	B	0.001	B	0.079	N	1.000	D	1.005	L	1.02	T	-1.088	T	0.076	T	0.336	3.874	19.68	2.66	0.335	2.123	9.789	0.051	.	0.0002	0.00219649	0.0009	0	0.0003	0	0.0002	0.0003	0.0022	0.0052	0.0007827	121	154602	rs138461928	0.0004	0.0004	0.0003	0.0006	0.0042	0.0004	0.0004	0.0039	0.0037	8.972e-05	0.0002	0.0008	0	9.361e-05	0.0007	0.0002	0.0006	0.0042	0.0003	0.0003	0.0002	0.0005	0.0062	0.0003	0.0002	0.0045	0.0039	2.406e-05	0	0.0004	0.0003	0	9.425e-05	0	0.0002	0	0.0062	0.167	0.23997	T	0.156	0.51737	T	0.001	0.07471	B	0.001	0.04355	B	0.078635	0.21032	N	0.514144	1	0.81001	D	1.59	0.40313	L	0.9	0.45248	T	-1.19	0.30346	N	0.217	0.24260	-1.0877	0.05925	T	0.076	0.30492	T	10	0.008322895	0.00189	T	.	.	.	0.051	0.14325	.	.	0.59855198555	0.59536	0.37127212932940323	0.37041	0.427374454908	0.43082	0.444713652134	0.31221	T	0.040525	0.25556	T	-0.488842	0.00659	T	-0.474149	0.25070	T	0.0218457604916583	0.00891	T	0.874113	0.59164	D	0.023542292	0.01103	0.038046975	0.03587	0.023542292	0.01103	0.038046975	0.03587	-6.47	0.50054	T	.	.	0.078	0.21728	B	.;.;.	.;.;.	3.051370	0.40945	21.3	0.99819946834119122	0.90326	0.67177	0.33338	D	AEFBCI	0.141046	0.26311	N	-0.444622605261566	0.23923	1.288107	-0.28359335838367	0.28638	1.598327	0.999913366109481	0.45857	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.47	2.66	0.30672	2.227000	0.42615	0.238000	0.16272	-0.119000	0.14319	1.000000	0.71638	0.002000	0.18203	0.995000	0.73285	0.2331:0.0:0.7669:0.0	9.789	0.39860	607	0.67291	SET domain|SET domain|SET domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2523.98	35	chr2	73218961	.	G	A	2523.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.780e-01;DP=909;ExcessHet=0.0000;FS=1.713;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=-1.060e-01;SOR=0.575	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1350	20	0	1	0
chr2	73292634	73292634	G	A	exonic	EGR4	.	nonsynonymous SNV	EGR4:NM_001965:exon2:c.C284T:p.P95L,	.	.	413	1095	14	0	0	14	0.00635209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.772	P	0.109	B	0.000	D	1.000	D	0.55	N	2.6	T	-1.045	T	0.025	T	0.632	3.118	16.42	4.04	2.067	4.555	14.918	0.144	0.0278407340441	0.0004	0.000599042	0.0009	0.0004	0.0011	0	0	0.0005	0.0019	0.0062	0.0007827	121	154602	rs35980039	0.0006	0.0006	0.0004	0.0007	0.0051	0.0005	0.0005	0.0047	0.0045	0.0004	0.0008	0.0010	2.697e-05	1.935e-05	0.0033	0.0003	0.0006	0.0051	0.0004	0.0004	0.0004	0.0005	0.0033	0.0003	0.0003	0.0021	0.0017	0.0003	0	0.0008	0.0012	0	0	0.0034	0.0003	0.0005	0.0033	0.0	0.91255	D	0.037	0.65728	D	.	.	.	.	.	.	0.000231	0.47286	D	0.091962	0.999787	0.49076	D	0.695	0.17993	N	2.6	0.18414	T	-1.83	0.42957	N	0.404	0.50598	-1.0450	0.15825	T	0.025	0.10688	T	10	0.006446719	0.00146	T	0.027841	0.50599	D	0.144	0.38394	.	.	0.569878715874	0.56654	0.3288451145038105	0.32797	1.39876295826	0.85150	0.795788109303	0.81322	T	0.275094	0.64762	T	-0.380871	0.03077	T	-0.321344	0.42427	T	0.0426380537075583	0.04172	T	0.854215	0.54741	D	0.3321644	0.55648	0.45497072	0.68311	0.3321644	0.55648	0.45497072	0.68311	-3.773	0.20401	T	.	.	0.531	0.73111	A	.;.	.;.	5.031941	0.83695	28.1	0.99869541305243181	0.94726	0.58054	0.30539	D	AEFDBHCI	0.234099	0.35691	N	0.0891387108244644	0.45956	2.843675	0.188975862922973	0.49240	3.129755	0.999987894569934	0.51787	0.59774	0.34471	0	0.541168	0.11318	0	0.378051	0.06126	2	0.63947	0.58350	0	.	.	4.04	4.04	0.46262	2.169000	0.42061	11.734000	0.95055	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	14.918	0.70455	555	0.71762	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1234.98	37	chr2	73292634	.	G	A	1234.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=823;ExcessHet=0.0000;FS=1.573;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=0.324;SOR=0.909	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1231	20	0	1	0
chr2	73293217	73293217	G	T	exonic	EGR4	.	nonsynonymous SNV	EGR4:NM_001965:exon1:c.C101A:p.A34D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.372	B	0.299	B	0.192	N	1.000	N	0.55	N	2.73	T	-1.017	T	0.027	T	0.227	2.244	13.46	-0.269	0.049	-0.062	4.355	0.015	0.0876730950374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.175	0.51112	T	.	.	.	.	.	.	0.192406	0.16812	N	0.534107	1	0.08975	N	0.55	0.14455	N	2.73	0.16953	T	-0.76	0.21215	N	0.207	0.22998	-1.0168	0.24755	T	0.027	0.11574	T	10	0.115300834	0.21719	T	0.087673	0.74982	D	0.015	0.02232	.	.	0.403896168776	0.40002	0.31059524387579374	0.30972	0.863382039472	0.69074	0.674284517765	0.63448	T	0.101437	0.40820	T	-0.235307	0.15952	T	-0.575779	0.14923	T	0.301985014735545	0.25086	T	0.579642	0.20943	T	0.28948724	0.51944	0.18785225	0.42042	0.28948724	0.51944	0.18785225	0.42041	-5.346	0.40396	T	.	.	0.354	0.56838	A	.;.	.;.	2.370417	0.30412	18.43	0.98651127763783197	0.44192	0.00962	0.03689	N	AEFDBHCI	0.063736	0.12334	N	-0.561009620411861	0.20141	1.059521	-0.558147176663404	0.20589	1.110001	0.999954224171998	0.48110	0.59774	0.34471	0	0.606814	0.50340	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.06	-0.269	0.12291	0.837000	0.27212	2.771000	0.34670	0.662000	0.56354	0.246000	0.24809	0.998000	0.33993	0.788000	0.37229	0.3184:0.3562:0.3254:0.0	4.355	0.10610	550	0.72197	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	876.98	35	chr2	73293217	.	G	T	876.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.310e-01;DP=771;ExcessHet=0.0000;FS=0.802;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.85;ReadPosRankSum=-8.530e-01;SOR=0.800	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1033	20	0	1	0
chr2	73385912	73385912	-	GGA	exonic	ALMS1	.	nonframeshift insertion	ALMS1:NM_001378454:exon1:c.44_45insGGA:p.E28_A29insE	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	0/1:22,17,0,0,0,0:39:99:598,0,820,664,871,1535,664,871,1535,1535,664,871,1535,1535,1535,664,871,1535,1535,1535,1535	0	4	5	0
chr2	73385907	73385912	GGAGGA	-	exonic	ALMS1	.	nonframeshift deletion	ALMS1:NM_001378454:exon1:c.39_44del:p.E27_E28del	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	0/1:22,17,0,0,0,0:39:99:598,0,820,664,871,1535,664,871,1535,1535,664,871,1535,1535,1535,664,871,1535,1535,1535,1535	0	4	5	0
chr2	73385910	73385912	GGA	-	exonic	ALMS1	.	nonframeshift deletion	ALMS1:NM_001378454:exon1:c.42_44del:p.E28del	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	0/1:22,17,0,0,0,0:39:99:598,0,820,664,871,1535,664,871,1535,1535,664,871,1535,1535,1535,664,871,1535,1535,1535,1535	0	4	5	0
chr2	73385912	73385912	-	GGAGGA	exonic	ALMS1	.	nonframeshift insertion	ALMS1:NM_001378454:exon1:c.44_45insGGAGGA:p.E28_A29insEE	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	0/1:22,17,0,0,0,0:39:99:598,0,820,664,871,1535,664,871,1535,1535,664,871,1535,1535,1535,664,871,1535,1535,1535,1535	0	4	5	0
chr2	73450755	73450755	G	C	exonic	ALMS1	.	nonsynonymous SNV	ALMS1:NM_001378454:exon8:c.G4228C:p.A1410P	Alstrom syndrome, Autosomal recessive	.	0	1516	6	0	0	6	0.00197498	.	.	518725	not_specified|not_provided|Alstrom_syndrome|Cardiovascular_phenotype	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008763,MedGen:C0268425,OMIM:203800,Orphanet:64|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.2	T	0.002	B	0.004	B	0.341	N	1.000	N	1.32	L	3.04	T	-1.020	T	0.036	T	0.407	1.902	12.32	-4.64	-1.097	-5.431	2.348	0.034	0.00335238166928	0.0002	.	0.0001	0.0001	8.646e-05	0	0	0.0002	0.0011	0	0.00011	17	154602	rs201517720	0.0002	0.0002	0.0002	0.0002	0.0045	0.0002	0.0002	0.0032	0.0027	0.0003	0.0002	0.0002	0	0.0002	0.0045	0.0002	0.0004	3.479e-05	0.0002	0.0002	0.0002	0.0003	0.0003	0.0002	0.0002	0.0002	0.0001	0.0003	0	0.0002	0	0	9.634e-05	0.0035	0.0002	0.0014	0	.	.	.	0.033	0.53072	D	.	.	.	.	.	.	0.341122	0.04188	N	1.475930	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.115	0.10483	-1.0199	0.23747	T	0.036	0.15422	T	10	0.043635845	0.03233	T	0.003352	0.07482	T	.	.	.	.	0.0666544352282	0.05500	0.09458552394916472	0.09390	.	.	0.217593073845	0.01175	T	0.030933	0.21808	T	-0.343857	0.05125	T	-0.438216	0.29010	T	0.0151528957104302	0.00330	T	0.531147	0.17633	T	0.055210277	0.10700	0.05998265	0.11350	0.055210277	0.10699	0.05998265	0.11349	-5.986	0.46163	T	.	.	0.208	0.43503	B	.;.;.	.;.;.	-0.709755	0.01299	0.070	0.96518451477105494	0.30105	0.01323	0.04570	N	AEFBI	0.061240	0.11693	N	-1.341008907698	0.03219	0.1434229	-1.47231360268252	0.02574	0.1186074	0.999234669968735	0.38840	0.706548	0.73137	0	0.71359	0.82159	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.85	-4.64	0.03109	-4.109000	0.00332	-20.000000	0.00162	-1.066000	0.01605	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2844:0.4129:0.183:0.1196	2.348	0.04016	492	0.76569	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.04762	7564.11	35	chr2	73450755	.	G	C	7564.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.418e+00;DP=3682;ExcessHet=0.1072;FS=1.733;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=1.19;SOR=0.824	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1575	19	0	2	0
chr2	73452942	73452942	C	T	exonic	ALMS1	.	nonsynonymous SNV	ALMS1:NM_001378454:exon8:c.C6415T:p.P2139S	Alstrom syndrome, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	1302100	not_provided|Alstrom_syndrome	MedGen:C3661900|MONDO:MONDO:0008763,MedGen:C0268425,OMIM:203800,Orphanet:64	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.46	T	0.158	B	0.03	B	0.049	N	1.000	N	0.075	N	2.72	T	-1.013	T	0.023	T	0.236	-2.556	0.003	0.057	-0.016	-1.184	3.738	0.009	0.00287495727606	.	.	8.339e-06	0	0	0	0	1.509e-05	0	0	1.29e-05	2	154602	rs772858451	1.574e-05	1.573e-05	1.362e-05	1.789e-05	2.238e-05	1.048e-05	8.76e-06	1.093e-05	8.81e-06	0	2.238e-05	0	0	0	0	1.709e-05	3.313e-05	1.16e-05	1.971e-05	1.97e-05	2.57e-05	1.345e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	.	.	.	0.676	0.06186	T	.	.	.	.	.	.	0.049171	0.23185	N	0.315407	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.108	0.10198	-1.0129	0.26007	T	0.023	0.09604	T	10	0.047561944	0.04090	T	0.002875	0.06044	T	.	.	.	.	0.0806252709748	0.07271	0.04868629426502791	0.04811	.	.	0.265956878662	0.05621	T	0.024549	0.18527	T	-0.206418	0.19887	T	-0.518795	0.20416	T	0.0216582990266962	0.00871	T	0.448455	0.12604	T	0.022819402	0.00972	0.04038406	0.04352	0.022819402	0.00972	0.04038406	0.04352	-1.649	0.02099	T	0.4360622876528141	0.52238	0.104	0.18787	B	.;.;.	.;.;.	-1.141304	0.00593	0.015	0.53786605201482485	0.05008	0.02388	0.06778	N	AEFGBI	0.035811	0.04669	N	-1.29151478530522	0.03776	0.1693139	-1.31167756287892	0.04279	0.2014598	0.885220534703619	0.25713	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	3.99	0.057	0.13636	-1.125000	0.03368	-1.000000	0.06649	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.044000	0.14658	0.0:0.4934:0.1859:0.3207	3.738	0.08045	493	0.76500	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1838.98	35	chr2	73452942	.	C	T	1838.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=1672;ExcessHet=0.0000;FS=0.636;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=-1.240e-01;SOR=0.814	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1575	20	0	1	0
chr2	73490070	73490070	C	T	exonic	ALMS1	.	nonsynonymous SNV	ALMS1:NM_001378454:exon10:c.C8111T:p.S2704F	Alstrom syndrome, Autosomal recessive	.	0	225	1	0	0	1	0.00221729	.	.	366754	not_provided|Alstrom_syndrome	MedGen:CN517202|MONDO:MONDO:0008763,MedGen:C0268425,OMIM:203800,Orphanet:64	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.662	P	0.205	B	0.011	N	0.911	D	0.69	N	3.4	T	-0.885	T	0.012	T	0.334	1.529	11.07	3.18	1.277	1.302	8.028	0.033	0.00464368936457	.	.	2.484e-05	0	0	0.0003	0	0	0	0	1.94e-05	3	154602	rs761272792	8.209e-06	8.209e-06	4.084e-06	1.238e-05	0.0003	4.38e-06	3.46e-06	0.0002	0.0001	0	0	0	0.0003	0	0	0	0	1.159e-05	1.313e-05	1.312e-05	0	2.686e-05	0.0004	2.18e-06	8.2e-07	6.837e-05	2.861e-05	0	0	0	0	0.0004	0	0	0	0	0	.	.	.	0.036	0.52060	D	.	.	.	.	.	.	0.011473	0.29519	N	0.162599	0.999903	0.19694	N	.	.	.	.	.	.	.	.	.	0.174	0.18649	-0.8848	0.49373	T	0.012	0.04463	T	10	0.087083936	0.14867	T	0.004644	0.11503	T	.	.	.	.	0.290222751274	0.28632	0.08538177700492285	0.08472	.	.	0.30428904295	0.11044	T	0.022336	0.17240	T	-0.305788	0.08124	T	-0.368152	0.37104	T	0.335586160421371	0.26448	T	0.80392	0.45144	T	0.061070316	0.12605	0.08103143	0.18381	0.061070316	0.12605	0.08103143	0.18380	-4.34	0.28734	T	0.16284349050047592	0.20028	0.124	0.25978	B	.;.;.	.;.;.	2.978699	0.39725	21.0	0.99763316129990876	0.85254	0.23414	0.22068	N	AEFBI	0.048533	0.08291	N	-0.358019862327159	0.26979	1.476639	-0.376762406087075	0.25690	1.414409	5.64770223885601E-4	0.07335	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.06	3.18	0.35615	1.012000	0.29527	2.742000	0.34470	0.599000	0.40250	0.154000	0.23713	0.991000	0.31484	0.370000	0.26111	0.0:0.89:0.0:0.11	8.028	0.29607	667	0.61242	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2204.98	34	chr2	73490070	.	C	T	2204.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.56;DP=1121;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=-1.384e+00;SOR=0.703	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1096	20	0	1	0
chr2	73490468	73490468	C	G	exonic	ALMS1	.	nonsynonymous SNV	ALMS1:NM_001378454:exon10:c.C8509G:p.Q2837E	Alstrom syndrome, Autosomal recessive	.	2	1519	1	0	0	1	0.000329056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.525	P	0.217	B	0.095	N	1.000	D	1.04	L	3.29	T	-0.988	T	0.017	T	0.233	1.911	12.35	3.99	2.524	1.509	11.883	0.035	0.00165036418903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.722e-06	0	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.12072	T	.	.	.	.	.	.	0.095064	0.20141	N	0.361838	0.933477	0.26995	N	.	.	.	.	.	.	.	.	.	0.234	0.26475	-0.9882	0.33052	T	0.017	0.06807	T	10	0.16013137	0.30069	T	0.00165	0.02702	T	.	.	.	.	0.584426982296	0.58115	0.030332108050951614	0.02982	.	.	0.282681643963	0.07870	T	0.024784	0.18662	T	-0.122685	0.32686	T	-0.414005	0.31766	T	0.313250005245209	0.25547	T	0.774523	0.40643	T	0.08393714	0.19406	0.17314474	0.39620	0.08393714	0.19406	0.17314474	0.39619	-3.406	0.15137	T	0.4286481796402601	0.51616	0.086	0.10739	B	.;.;.	.;.;.	2.245581	0.28682	17.88	0.98186940629427599	0.39001	0.72861	0.35650	D	AEFDBI	0.123592	0.23926	N	0.0365169477493652	0.43524	2.643564	0.103521759856499	0.44729	2.748992	0.0253325574116746	0.13642	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.99	3.99	0.45527	1.775000	0.38213	1.185000	0.24724	0.599000	0.40250	0.966000	0.33990	1.000000	0.68203	0.961000	0.51904	0.0:1.0:0.0:0.0	11.883	0.51869	662	0.61715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2530.98	34	chr2	73490468	.	C	G	2530.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.064;DP=1636;ExcessHet=0.0000;FS=1.189;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.80;ReadPosRankSum=-1.272e+00;SOR=0.765	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1096	20	0	1	0
chr2	73491483	73491483	C	T	exonic	ALMS1	.	nonsynonymous SNV	ALMS1:NM_001378454:exon10:c.C9524T:p.P3175L	Alstrom syndrome, Autosomal recessive	.	0	225	1	0	0	1	0.00221729	.	.	2081872	Cardiovascular_phenotype|Alstrom_syndrome	MedGen:CN230736|MONDO:MONDO:0008763,MedGen:C0268425,OMIM:203800,Orphanet:64	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.985	D	0.012	N	1.000	D	1.525	L	3.09	T	-1.206	T	0.049	T	0.375	3.264	16.95	4.25	2.669	3.297	12.507	0.188	0.0026243708428	.	.	8.377e-06	0	0	0	0	0	0	6.105e-05	6.5e-06	1	154602	rs768943180	6.841e-06	6.84e-06	4.084e-06	9.627e-06	8.117e-05	3.46e-06	2.52e-06	3.766e-05	2.662e-05	0	0	0	0	0	0	2.698e-06	0	8.117e-05	6.573e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.011954	0.29343	N	0.163582	0.993438	0.41939	D	.	.	.	.	.	.	.	.	.	0.319	0.37197	-1.2061	0.00110	T	0.049	0.21065	T	10	0.29135394	0.46715	T	0.002624	0.05320	T	.	.	.	.	0.420199648628	0.41636	0.19321962186226635	0.19239	.	.	0.364694237709	0.20067	T	0.095463	0.39627	T	-0.108006	0.35098	T	-0.292289	0.45535	T	0.893869638442993	0.54516	D	0.758124	0.38180	T	0.12392936	0.29090	0.12296282	0.29654	0.12392936	0.29090	0.12296282	0.29654	-3.13	0.11644	T	0.5746673774759329	0.64168	0.102	0.17785	B	.;.;.	.;.;.	3.339062	0.46004	22.2	0.99879545252583946	0.95572	0.77328	0.38008	D	AEFBI	0.138792	0.26019	N	0.47547473466943	0.65663	4.850715	0.410173100630806	0.62197	4.431264	0.0530671325069116	0.14926	0.615465	0.37627	0	0.667123	0.63270	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.25	4.25	0.49658	1.120000	0.30885	2.460000	0.32851	0.597000	0.34315	0.061000	0.21800	0.954000	0.29108	0.904000	0.43992	0.0:1.0:0.0:0.0	12.507	0.55333	658	0.62094	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	776.98	40	chr2	73491483	.	C	T	776.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.400e-01;DP=834;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=-2.620e-01;SOR=0.631	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1096	20	0	1	0
chr2	73519968	73519968	G	A	exonic	ALMS1	.	nonsynonymous SNV	ALMS1:NM_001378454:exon11:c.G9733A:p.A3245T	Alstrom syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	915021	Alstrom_syndrome|Cardiovascular_phenotype|not_specified|not_provided	MONDO:MONDO:0008763,MedGen:C0268425,OMIM:203800,Orphanet:64|MedGen:CN230736|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.728	P	0.457	P	0.083	N	1.000	D	1.525	L	3.13	T	-1.129	T	0.030	T	0.149	3.966	20.3	4.75	1.530	2.516	10.851	0.078	0.00304097776772	.	0.000199681	0.0001	0	0	0.0016	0	0	0	0.0001	0.00011	17	154602	rs200432874	4.378e-05	4.378e-05	4.628e-05	4.125e-05	0.0013	3.509e-05	3.193e-05	0.0010	0.0009	0	0	0	0.0013	0	0	0	8.279e-05	0.0001	6.566e-05	6.562e-05	6.425e-05	6.714e-05	0.0017	3.514e-05	2.615e-05	0.0009	0.0007	0	0	0	0	0.0017	0	0	0	0	0.0002	.	.	.	0.015	0.61642	D	.	.	.	.	.	.	0.083213	0.20765	N	0.412949	0.981333	0.25047	N	.	.	.	.	.	.	.	.	.	0.202	0.22998	-1.1286	0.01850	T	0.030	0.12760	T	10	0.022248536	0.00551	T	0.003041	0.06547	T	.	.	.	.	0.259272394797	0.25527	0.12811979687283492	0.12736	.	.	0.318226397038	0.13152	T	0.037572	0.24522	T	-0.481061	0.00729	T	-0.477018	0.24764	T	0.0777041379065931	0.09690	T	0.70083	0.31049	T	0.02767465	0.01993	0.07143691	0.15297	0.02767465	0.01993	0.07143691	0.15297	-2.67	0.07054	T	0.6145233880964431	0.68237	0.104	0.18950	B	.;.;.	.;.;.	2.267205	0.28977	17.97	0.99719098037052845	0.81914	0.76704	0.37640	D	AEFBI	0.107581	0.21430	N	-0.0892692972756828	0.37862	2.208991	-0.0629884261258948	0.36934	2.155838	0.00156036352657918	0.08639	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.62	4.75	0.59954	1.494000	0.35225	3.231000	0.36908	-0.113000	0.14837	0.950000	0.33075	0.999000	0.35428	0.012000	0.09680	0.0869:0.0:0.9131:0.0	10.851	0.45979	586	0.69252	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1686.98	35	chr2	73519968	.	G	A	1686.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.740e-01;DP=861;ExcessHet=0.0000;FS=9.402;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=-6.320e-01;SOR=1.298	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1382	20	0	1	0
chr2	73701063	73701063	G	A	exonic	NAT8B	.	unknown	UNKNOWN,	.	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	9.073e-05	0	8.637e-05	0	0	0	0	0.0006	7.76e-05	12	154602	rs573495203	6.293e-05	6.293e-05	4.492e-05	8.113e-05	0.0007	5.228e-05	4.845e-05	0.0004	0.0004	0	2.236e-05	0	0	0	0.0007	3.417e-05	4.967e-05	0.0005	5.91e-05	6.562e-05	6.424e-05	5.372e-05	0.0012	3.076e-05	2.209e-05	0.0005	0.0004	0	0	0	0	0	0	0	4.411e-05	0	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3984.98	148	chr2	73701063	.	G	A	3984.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=3261;ExcessHet=0.0000;FS=0.940;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.87;ReadPosRankSum=-3.100e-01;SOR=0.779	GT:AD:DP:GQ:PL	0/0:173,0:173:99:0,120,1800	20	0	1	0
chr2	73813771	73813771	G	C	exonic	C2orf78	.	nonsynonymous SNV	C2orf78:NM_001080474:exon2:c.G392C:p.S131T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.131	B	0.033	B	0.158	U	1.000	N	0.55	N	1.6	T	-1.012	T	0.054	T	0.116	-0.190	3.074	-0.452	0.065	0.667	12.595	0.015	0.00503906646793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.17183	T	0.119	0.36101	T	0.131	0.27154	B	0.033	0.22329	B	0.157897	0.03015	U	3.003720	1	0.08975	N	0.345	0.11182	N	1.6	0.28604	T	0.4	0.03463	N	0.202	0.22357	-1.0120	0.26291	T	0.054	0.22770	T	10	0.05466765	0.05857	T	0.005039	0.12753	T	0.015	0.02232	0.187	0.09646	0.136095386433	0.13204	0.01630288046249083	0.01586	0.092439961604	0.10434	.	.	.	0.018469	0.14885	T	-0.323279	0.06633	T	-0.702144	0.05709	T	0.203417003154755	0.20603	T	0.255075	0.03944	T	0.042089514	0.06321	0.048057646	0.07059	0.042089514	0.06321	0.048057646	0.07058	-3.997	0.23759	T	.	.	0.077	0.06250	B	.	.	0.316162	0.06908	3.450	0.76723545469039522	0.11583	0.03529	0.08717	N	AEFDBI	0.035684	0.04635	N	-1.15642876242858	0.05675	0.2593203	-1.17536692888712	0.06323	0.3040222	0.987021049617479	0.31170	0.497415	0.19182	0	0.563428	0.19063	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	5.29	-0.452	0.11596	0.425000	0.21065	-1.485000	0.05333	-0.832000	0.02862	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.6105:0.3895	12.595	0.55819	400	0.82730	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2519.98	34	chr2	73813771	.	G	C	2519.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.442e+00;DP=808;ExcessHet=0.0000;FS=1.587;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.66;ReadPosRankSum=-2.230e-01;SOR=0.633	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1085	20	0	1	0
chr2	73946899	73946899	A	G	exonic	DGUOK	.	nonsynonymous SNV	DGUOK:NM_001318860:exon2:c.A145G:p.S49G	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Autosomal recessive;Portal hypertension, noncirrhotic, Autosomal recessive;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1990111	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	N	1.000	D	3.325	M	-4.07	D	1.099	D	0.950	D	0.944	4.977	29.1	5.68	2.175	8.848	14.921	0.971	0.301359465817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.427e-06	3.42e-06	1.364e-06	5.512e-06	4.5e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.5e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	N	0.041114	1	0.81001	D	3.135	0.88152	M	-4.07	0.96562	D	-3.8	0.71762	D	0.933	0.96187	1.099	0.99628	D	0.950	0.98368	D	10	0.96218485	0.95642	D	0.301359	0.90893	D	0.971	0.99671	0.841	0.94663	0.999001975636	0.99898	0.7790852717051264	0.77859	0.517873433737	0.49650	0.610723853111	0.54418	T	0.949301	0.99258	D	0.562713	0.96292	D	0.570522	0.96232	D	0.992160379886627	0.82579	D	0.953205	0.83632	D	0.93005645	0.94242	0.88210946	0.93709	0.93005645	0.94243	0.88210946	0.93710	-11.904	0.84379	D	0.6148052833655315	0.68268	0.386	0.58756	A	.;.	.;.	4.904832	0.80643	27.4	0.99835513010145227	0.91628	0.99340	0.94730	D	AEFDBI	0.928027	0.91160	D	0.946696323844407	0.93851	12.32282	0.893025752504749	0.95263	13.45755	0.999999999972529	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	9.216000	0.94289	11.151000	0.87351	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.921	0.70484	549	0.72275	Deoxynucleoside kinase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1714.98	41	chr2	73946899	.	A	G	1714.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.600e-02;DP=822;ExcessHet=0.0000;FS=0.734;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.18;ReadPosRankSum=-1.418e+00;SOR=0.580	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1299	20	0	1	0
chr2	74198717	74198717	C	T	exonic	MTHFD2	.	nonsynonymous SNV	MTHFD2:NM_006636:exon1:c.C76T:p.R26C,	.	.	.	.	.	.	.	.	.	.	.	3369604	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.076	B	0.01	B	0.330	N	0.999	N	0.345	N	1.83	T	-1.050	T	0.066	T	0.28	0.085	4.458	2.78	0.857	0.363	5.787	0.044	0.0180721257203	.	.	1.929e-05	0	0	0	0	3.461e-05	0	0	1.29e-05	2	154602	rs771539434	1.851e-05	1.915e-05	2.184e-05	1.516e-05	0.0005	1.268e-05	1.087e-05	0.0001	7.57e-05	0	0	0	0	0	0.0005	1.35e-05	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.78490	T	0.005	0.76473	D	0.006	0.24253	B	0.006	0.14941	B	0.330450	0.14123	N	0.698788	1	0.21331	N	0	0.06538	N	1.83	0.51474	T	-0.48	0.24460	N	0.191	0.30914	-1.0496	0.14509	T	0.066	0.27225	T	10	0.13597381	0.25872	T	0.018072	0.40007	T	0.044	0.11924	0.626	0.76141	0.518531843619	0.51497	0.5469011963806527	0.54616	0.199589811103	0.22362	0.359801530838	0.19356	T	0.314742	0.68640	T	-0.148922	0.28482	T	-0.451692	0.27511	T	0.0663010255635337	0.08122	T	0.765923	0.44827	T	0.09126941	0.21382	0.09049428	0.21224	0.09126941	0.21381	0.09049428	0.21223	-5.39	0.40823	T	.	.	0.167	0.36811	B	.;.;.	.;.;.	1.843105	0.23417	16.01	0.90602554543348413	0.19856	0.28089	0.23458	N	ALL	0.069778	0.13825	N	-0.880252104142548	0.11314	0.5452838	-0.878345931429552	0.12608	0.6495123	0.999999999999532	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.58	2.78	0.31702	0.372000	0.20199	0.432000	0.18335	0.549000	0.26987	0.000000	0.06391	0.002000	0.18203	0.003000	0.05239	0.191:0.7119:0.0:0.0971	5.787	0.17605	758	0.50837	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	631.98	34	chr2	74198717	.	C	T	631.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.382;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.65;ReadPosRankSum=0.701;SOR=0.779	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1210	20	0	1	0
chr2	74221502	74221502	C	T	splicing	SLC4A5	NM_133478:exon30:c.3332-1G>A;NM_021196:exon26:c.3380-1G>A	.	.	.	.	428	1092	2	0	0	2	0.000914913	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.545	18.09	5.18	1.576	4.921	11.168	.	.	.	.	2.472e-05	0	8.639e-05	0	0	2.998e-05	0	0	1.94e-05	3	154602	rs202126887	3.01e-05	3.01e-05	2.995e-05	3.025e-05	0.0002	2.282e-05	2.032e-05	2.995e-05	2.038e-05	2.987e-05	2.236e-05	0	0	0	0.0002	3.058e-05	1.656e-05	6.956e-05	2.628e-05	2.627e-05	3.853e-05	1.345e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154746	0.69712	D	0.170409	0.81435	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.761807	0.93435	33	0.99077481197918493	0.51882	0.84569	0.43652	D	AEFDBCI	.	.	.	1.03476343997364	0.96716	15.04955	0.883199609967911	0.94797	13.05115	0.996659569308907	0.34900	0.115753	0.02995	0	0.12628	0.03447	0	0.068591	0.01938	0	0.062806	0.01542	0	0.827389	0.49545	6.06	5.18	0.71140	4.986000	0.63577	7.645000	0.63394	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.9162:0.0:0.0838	11.168	0.47778	724	0.55085	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1051.98	38	chr2	74221502	.	C	T	1051.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.853e+00;DP=820;ExcessHet=0.0000;FS=5.511;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=0.716;SOR=0.330	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1172	20	0	1	0
chr2	74366844	74366844	C	T	exonic	DCTN1	.	nonsynonymous SNV	DCTN1:NM_001135041:exon16:c.G2003A:p.R668Q	Neuropathy, distal hereditary motor, type VIIB, Autosomal dominant;Perry syndrome, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	3094154	Amyotrophic_lateral_sclerosis_type_1|Perry_syndrome|Neuronopathy,_distal_hereditary_motor,_type_7B	MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803|MONDO:MONDO:0008201,MedGen:C1868594,OMIM:168605,Orphanet:178509|MONDO:MONDO:0011879,MedGen:C1843315,OMIM:607641,Orphanet:139589	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.988	D	0.003	N	1.000	D	1.89	L	-1.57	D	0.417	D	0.685	D	0.733	5.098	31	5.32	2.769	7.117	17.919	0.685	0.182468314395	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.015	0.63109	D	0.998	0.73220	D	0.988	0.77976	D	0.003167	0.35330	N	0.000000	1	0.81001	D	1.59	0.40313	L	-1.57	0.81900	D	-2.41	0.54546	N	0.798	0.82057	0.417	0.89354	D	0.685	0.89132	D	10	0.72925	0.74184	D	0.182468	0.85622	D	0.685	0.88490	0.399	0.42753	0.979016098191	0.97879	0.5159983753484382	0.51522	0.424303151291	0.42865	0.859854102135	0.91089	D	0.621351	0.88135	D	0.217496	0.75538	D	0.0746422	0.75220	D	0.937501430511475	0.60734	D	0.991601	0.97869	D	0.27413878	0.50480	0.22913945	0.47977	0.27413878	0.50480	0.22913945	0.47976	-8.705	0.65890	D	0.17392362024964245	0.22059	0.293	0.65368	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.710527	0.75672	26.4	0.99958695129745401	0.99990	0.98810	0.87149	D	AEFGBI	0.901832	0.84901	D	0.762982267136809	0.83747	8.099293	0.760282510549084	0.86925	9.047799	0.999999999999529	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	7.238000	0.77628	7.658000	0.64072	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	17.919	0.88878	559	0.71409	Dynein associated protein;.;Dynein associated protein;.;.;.;Dynein associated protein;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1476.98	37	chr2	74366844	.	C	T	1476.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.180e-01;DP=830;ExcessHet=0.0000;FS=4.539;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=1.87;SOR=0.391	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr2	74378244	74378244	G	A	exonic	DCTN1	.	nonsynonymous SNV	DCTN1:NM_001135040:exon2:c.C35T:p.T12M	Neuropathy, distal hereditary motor, type VIIB, Autosomal dominant;Perry syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	0.8842	0.724	989010	Inborn_genetic_diseases|Amyotrophic_lateral_sclerosis_type_1|Perry_syndrome|Neuronopathy,_distal_hereditary_motor,_type_7B	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803|MONDO:MONDO:0008201,MedGen:C1868594,OMIM:168605,Orphanet:178509|MONDO:MONDO:0011879,MedGen:C1843315,OMIM:607641,Orphanet:139589	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.908	P	0.403	B	0.000	D	1.000	D	0.345	N	-0.67	T	-0.033	T	0.413	T	0.262	4.525	24.4	4.99	2.299	6.180	17.037	0.350	0.104951708385	.	0.000199681	3.398e-05	0	0.0002	0	0	3.102e-05	0	0	3.23e-05	5	154602	rs72659364	2.957e-05	3.078e-05	2.875e-05	3.04e-05	0.0002	2.228e-05	1.98e-05	9.928e-05	7.224e-05	0.0001	0.0001	0	0.0002	0	0	2.068e-05	3.315e-05	0	5.25e-05	5.249e-05	2.569e-05	8.053e-05	0.0003	2.554e-05	1.828e-05	8.868e-05	5.28e-05	4.808e-05	0	0.0003	0	0.0002	0	0	1.47e-05	0	0	0.002	0.78490	D	0.009	0.66756	D	0.908	0.50127	P	0.403	0.44588	B	0.000486	0.43931	D	0.000000	0.999897	0.81001	D	0.895	0.22405	L	-0.86	0.84919	T	-0.48	0.17003	N	0.229	0.33360	-0.0334	0.81558	T	0.413	0.76061	T	10	0.14124241	0.30685	T	0.104952	0.77981	D	0.350	0.67142	0.147	0.05039	0.940131082725	0.93950	0.37512195972396567	0.37426	0.822855685538	0.67260	0.610837638378	0.54435	T	0.104205	0.41356	T	-0.0735702	0.40754	T	-0.160687	0.58290	T	0.113778534256699	0.13811	T	0.944206	0.78893	D	0.17075516	0.37669	0.14200577	0.33798	0.17075516	0.37669	0.14200577	0.33797	-7.796	0.62969	D	.	.	0.113	0.39765	B	.;.;.;.;.	.;.;.;.;.	4.762773	0.77023	26.6	0.99860365391248918	0.93911	0.99160	0.92113	D	AEFDBI	0.861751	0.77989	D	0.189369749898476	0.50690	3.256545	0.312424599351386	0.56270	3.789994	0.999999999999998	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.99	4.99	0.65942	6.530000	0.73725	11.820000	0.97208	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.846000	0.39970	0.0:0.0:1.0:0.0	17.037	0.86353	528	0.73785	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	785.98	30	chr2	74378244	.	G	A	785.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.212;DP=758;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.29;ReadPosRankSum=-1.770e-01;SOR=0.651	GT:AD:DP:GQ:PL	0/1:26,29:55:99:800,0,742	20	0	1	0
chr2	74416088	74416088	C	T	exonic	C2orf81	.	nonsynonymous SNV	C2orf81:NM_001145054:exon2:c.G181A:p.D61N	.	.	417	1033	69	3	0	75	0.0350304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.964	D	0.015	N	1.000	D	2.045	M	.	.	-0.178	T	0.291	T	0.124	3.752	19.05	4.99	2.762	2.302	17.569	0.170	.	0.0096	0.00579073	0.0162	0.0019	0.0149	0.0017	0.0055	0.0139	0.0146	0.0245	0.0034346	531	154602	rs61999261	0.0098	0.0094	0.0093	0.0103	0.0233	0.0097	0.0096	0.0224	0.0220	0.0013	0.0036	0.0223	5.664e-05	0.0016	0.0164	0.0097	0.0093	0.0233	0.0068	0.0068	0.0069	0.0067	0.0217	0.0065	0.0063	0.0184	0.0171	0.0017	0.0471	0.0037	0.0239	0	0.0015	0.0272	0.0095	0.0071	0.0217	0.007	0.59928	D	0.009	0.66756	D	0.999	0.77913	D	0.964	0.71005	D	0.015231	0.28305	N	0.169000	0.730451	0.81001	D	.	.	.	.	.	.	-3.34	0.66325	D	0.115	0.18239	-0.1785	0.78218	T	0.291	0.66259	T	9	0.0066019595	0.00149	T	.	.	.	0.170	0.43303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.48828	0.00664	T	-0.456571	0.26973	T	0.0132588402567505	0.00237	T	0.819918	0.47908	T	0.1454031	0.33332	0.16703159	0.38556	0.1454031	0.33332	0.16703159	0.38555	-8.235	0.62660	D	.	.	0.272	0.56638	B	.;.;.;.	.;.;.;.	4.460103	0.69407	25.4	0.99842137099818384	0.92229	0.66605	0.33136	D	AEFDBCI	0.322372	0.42488	N	0.617773032868231	0.74299	6.109054	0.587038929016393	0.74008	6.064898	0.999999996186617	0.74766	0.608746	0.35421	0	0.627608	0.54475	0	0.603688	0.36954	0	0.63947	0.58350	0	.	.	4.99	4.99	0.65942	2.130000	0.41687	4.820000	0.45111	0.549000	0.26987	0.959000	0.33545	1.000000	0.68203	0.860000	0.40782	0.0:1.0:0.0:0.0	17.569	0.87828	532	0.73501	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1935.98	37	chr2	74416088	.	C	T	1935.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=870;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.24;ReadPosRankSum=-1.311e+00;SOR=0.743	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1218	20	0	1	0
chr2	74430513	74430513	G	A	exonic	RTKN	.	nonsynonymous SNV	RTKN:NM_001015055:exon4:c.C379T:p.R127W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	1.0	D	0.000	D	1.000	D	2.505	M	0.75	T	-0.425	T	0.300	T	0.924	4.547	24.6	4.24	1.314	5.322	12.275	0.536	0.0725469302669	7.7e-05	.	4.942e-05	0	0	0	0	8.99e-05	0	0	5.17e-05	8	154602	rs377701393	2.941e-05	2.941e-05	2.723e-05	3.163e-05	0.0005	2.216e-05	1.97e-05	0.0001	7.541e-05	0	0	0	0	0	0.0005	3.058e-05	4.967e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.485	0.72352	M	0.75	0.50192	T	-7.56	0.95276	D	0.905	0.91505	-0.4250	0.71229	T	0.300	0.67092	T	10	0.8930155	0.88648	D	0.072547	0.71561	D	0.536	0.80545	.	.	0.828464411943	0.82683	0.7979849423653289	0.79751	0.901814095045	0.70670	0.82229745388	0.85381	D	0.462778	0.79900	T	0.160714	0.70266	D	0.173374	0.81609	D	0.975916028022766	0.71146	D	0.992576	0.97789	D	0.8576799	0.87910	0.7345662	0.84312	0.8576799	0.87911	0.7345662	0.84314	-10.905	0.79817	D	.	.	0.772	0.82481	P	.;.;.	.;.;.	5.736501	0.93308	33	0.99925158782525503	0.99042	0.98767	0.86589	D	AEFBCI	0.844256	0.76123	D	0.681022994909752	0.78390	6.861759	0.616525439856252	0.76138	6.436353	0.999999974886157	0.74766	0.67177	0.52595	0	0.633656	0.55848	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.14	4.24	0.49486	5.562000	0.67049	7.481000	0.59259	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.8141:0.1859	12.275	0.54051	521	0.74284	.;Anillin homology domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1052.98	35	chr2	74430513	.	G	A	1052.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.444;DP=792;ExcessHet=0.0000;FS=2.251;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.98;ReadPosRankSum=1.65;SOR=1.125	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1448	20	0	1	0
chr2	74481463	74481463	C	T	exonic	CCDC142	.	nonsynonymous SNV	CCDC142:NM_001365575:exon2:c.G1097A:p.S366N	.	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.004	B	0.004	B	0.139	N	1.000	N	2.08	M	0.89	T	-1.022	T	0.080	T	0.141	1.268	10.14	-1.71	-0.229	-0.274	1.979	0.049	.	.	0.00219649	0.0008	0	0.0002	0	0	2.999e-05	0	0.0059	0.0007374	114	154602	rs374490576	0.0004	0.0004	0.0002	0.0006	0.0062	0.0004	0.0004	0.0058	0.0056	0	4.472e-05	0	0	0	0.0005	5.396e-06	0.0005	0.0062	0.0002	0.0002	8.997e-05	0.0004	0.0068	0.0002	0.0001	0.0050	0.0044	0	0	0	0	0	0	0	1.47e-05	0	0.0068	0.159	0.23813	T	0.016	0.60972	D	0.0	0.12183	B	0.001	0.10090	B	0.138618	0.18372	N	0.508000	0.999904	0.19694	N	1.825	0.47900	L	0.89	0.45636	T	-0.9	0.25332	N	0.233	0.26475	-1.0217	0.23162	T	0.080	0.31615	T	10	0.008601874	0.00195	T	.	.	.	0.049	0.13647	0.247	0.18293	0.235664433957	0.23186	0.21802444981067995	0.21718	0.200694031124	0.22468	0.31821590662	0.13151	T	0.004632	0.04039	T	-0.591329	0.00165	T	-0.619984	0.11187	T	0.0188910916492331	0.00599	T	0.427357	0.11519	T	0.07528787	0.16953	0.06323823	0.12496	0.07528787	0.16953	0.06323823	0.12496	-6.087	0.47002	T	.	.	0.087	0.11317	B	.;.	.;.	1.474217	0.18984	14.03	0.76304580643698683	0.11414	0.10423	0.15934	N	AEFB	0.070506	0.13998	N	-0.870574543997229	0.11547	0.5578303	-0.835112215867669	0.13645	0.7090073	0.99978323730388	0.43007	0.489673	0.17934	0	0.516746	0.08562	0	0.759307	0.98198	0	0.665054	0.64577	0	.	.	4.79	-1.71	0.07696	-0.186000	0.09666	-0.222000	0.10754	-0.190000	0.09434	0.441000	0.26495	0.256000	0.23951	0.991000	0.66497	0.1206:0.3984:0.2363:0.2446	1.979	0.03214	524	0.74079	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1829.98	37	chr2	74481463	.	C	T	1829.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.619;DP=823;ExcessHet=0.0000;FS=0.662;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.30;ReadPosRankSum=-1.173e+00;SOR=0.613	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1042	20	0	1	0
chr2	74493013	74493013	C	G	exonic	TTC31	.	nonsynonymous SNV	TTC31:NM_001376144:exon11:c.C839G:p.P280R	.	.	416	1060	44	2	0	48	0.0221402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.697	P	0.202	B	0.869	N	1.000	N	0.55	N	0.35	T	-1.062	T	0.056	T	0.401	1.659	11.51	-0.268	-0.138	0.210	6.064	0.003	0.00783060821639	0.0017	0.00139776	0.0013	0.0004	0.0015	0	0	0.0018	0.0067	0.0004	0.0011966	185	154602	rs183395059	0.0012	0.0012	0.0011	0.0012	0.0296	0.0011	0.0011	0.0260	0.0246	0.0018	0.0020	0.0028	0	7.488e-05	0.0296	0.0010	0.0029	0.0007	0.0011	0.0011	0.0011	0.0010	0.0027	0.0009	0.0009	0.0021	0.0019	0.0007	0	0.0027	0.0012	0	9.413e-05	0.0136	0.0011	0.0043	0.0002	0.025	0.47320	D	0.072	0.43344	T	0.171	0.28729	B	0.029	0.21540	B	0.869201	0.07165	N	1.074830	1	0.08975	N	0.55	0.14455	N	0.35	0.58029	T	0.52	0.02853	N	0.061	0.03283	-1.0624	0.11166	T	0.056	0.23715	T	10	0.004458189	0.00091	T	0.007831	0.20773	T	0.067	0.19503	.	.	0.353336612579	0.34937	0.2524848523440766	0.25162	0.142675067835	0.16090	0.431733429432	0.29446	T	0.002507	0.01894	T	-0.418802	0.01741	T	-0.393371	0.34157	T	0.00167127464486619	0.00017	T	0.455254	0.13018	T	0.023714751	0.01135	0.03514842	0.02713	0.023714751	0.01135	0.03514842	0.02712	-4.028	0.24221	T	.	.	0.095	0.15115	B	.	.	0.125822	0.05223	1.731	0.97619587196554325	0.34954	0.03072	0.07984	N	AEFBI	0.055863	0.10280	N	-1.15336938138376	0.05725	0.2617276	-1.23526001286072	0.05353	0.2548353	0.988394439570794	0.31502	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.62	-0.268	0.12295	0.054000	0.14087	-0.033000	0.12769	-0.341000	0.05685	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.3858:0.0:0.6142	6.064	0.19077	363	0.84772	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1007.98	34	chr2	74493013	.	C	G	1007.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.857e+00;DP=794;ExcessHet=0.0000;FS=2.915;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.00;ReadPosRankSum=0.653;SOR=1.127	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1365	20	0	1	0
chr2	74498258	74498258	C	T	exonic	LBX2	.	nonsynonymous SNV	LBX2:NM_001009812:exon2:c.G254A:p.R85H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.375	H	-5.51	D	1.022	D	0.986	D	0.947	5.446	35	4.61	2.390	7.434	14.987	0.479	0.374264008227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.385e-06	2.736e-06	2.754e-06	0	5.995e-05	2.3e-07	9e-08	9.93e-06	3.71e-06	5.995e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000215	0.47681	D	0.000000	1	0.81001	D	3.925	0.96283	H	-5.51	0.99156	D	-4.92	0.81675	D	0.945	0.96302	1.022	0.97563	D	0.986	0.99568	D	10	0.9823085	0.98303	D	0.374264	0.92820	D	0.985	0.99931	0.915	0.98384	0.952298333566	0.95179	0.8193136582524453	0.81888	1.55511015912	0.87952	0.925487101078	0.98712	D	0.801247	0.94935	D	0.55994	0.96164	D	0.566539	0.96104	D	0.999938249588013	0.99782	D	0.994026	0.98060	D	0.7677293	0.81911	0.7446124	0.84904	0.7677293	0.81913	0.7446124	0.84905	-12.39	0.86699	D	.	.	0.783	0.83259	P	.;.	.;.	6.126665	0.94621	34	0.99947249873804922	0.99913	0.98445	0.82852	D	AEFDGBHCI	0.931430	0.92023	D	0.994375674291099	0.95569	13.74652	0.859505691599078	0.93561	12.12358	1.0	0.98316	0.443343	0.08805	1	0.606814	0.50340	0	0.666236	0.60216	0	0.56751	0.32155	0	.	.	4.61	4.61	0.56724	7.801000	0.84525	7.528000	0.59870	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.862000	0.40904	0.0:1.0:0.0:0.0	14.987	0.71008	364	0.84707	Homeobox domain|Homeobox domain|Homeobox domain|Homeobox domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1548.98	39	chr2	74498258	.	C	T	1548.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.00;DP=902;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.04;ReadPosRankSum=0.080;SOR=0.732	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,107,1465	20	0	1	0
chr2	74506202	74506202	C	T	exonic	PCGF1	.	nonsynonymous SNV	PCGF1:NM_032673:exon4:c.G403A:p.V135I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.019	B	0.012	B	0.000	D	0.510	N	0.41	N	1.92	T	-1.067	T	0.042	T	0.239	2.944	15.81	5.45	2.572	2.899	14.796	0.042	0.00541245296801	0.0013	.	0.0015	9.623e-05	0	0	0	0.0026	0.0011	0	0.0013195	204	154602	rs149582140	0.0010	0.0010	0.0010	0.0011	0.0007	0.0010	0.0010	0.0002	0.0002	2.987e-05	2.236e-05	0.0406	0	0	0.0007	0.0002	0.0030	4.637e-05	0.0012	0.0012	0.0011	0.0013	0.0003	0.0011	0.0010	0.0002	0.0002	0	0	6.544e-05	0.0452	0	0	0	0.0003	0.0029	0.0002	0.31	0.14017	T	0.426	0.13872	T	0.019	0.17989	B	0.012	0.16012	B	0.000180	0.48594	D	0.142052	0.510413	0.31652	N	0.46	0.12951	N	1.92	0.23082	T	-0.28	0.11547	N	0.263	0.29774	-1.0665	0.10200	T	0.042	0.18202	T	10	0.004781902	0.00101	T	0.005412	0.13893	T	0.042	0.11227	.	.	0.263709349026	0.25991	0.15445223190322885	0.15366	0.681253805767	0.60037	0.675887107849	0.63679	T	0.035242	0.23640	T	-0.434123	0.01401	T	-0.529299	0.19356	T	0.0178555963558286	0.00513	T	0.792821	0.43457	T	0.09294744	0.21819	0.07163076	0.15362	0.09294744	0.21818	0.07163076	0.15362	-3.773	0.20401	T	.	.	0.085	0.10256	B	.	.	2.775979	0.36451	20.2	0.99605669247990847	0.74516	0.92927	0.56890	D	AEFBCI	0.383098	0.46473	N	-0.101917107319869	0.37309	2.168764	0.119017597869637	0.45521	2.813876	0.999999351335272	0.74766	0.609539	0.35627	0	0.685571	0.66316	0	0.493711	0.08198	1	0.605231	0.38476	0	.	.	5.45	5.45	0.79688	3.020000	0.49326	3.964000	0.40771	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.998000	0.85391	0.0:1.0:0.0:0.0	14.796	0.69501	362	0.84826	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	728.98	34	chr2	74506202	.	C	T	728.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.347e+00;DP=795;ExcessHet=0.0000;FS=3.723;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.36;ReadPosRankSum=-1.522e+00;SOR=0.346	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1077	20	0	1	0
chr2	74516077	74516077	C	T	exonic	TLX2	.	nonsynonymous SNV	TLX2:NM_016170:exon3:c.C743T:p.P248L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.613	P	0.186	B	0.000	D	0.975	D	1.65	L	-2.58	D	0.093	D	0.534	D	0.212	2.931	15.77	4.09	2.338	0.177	9.937	0.319	0.405800921003	.	.	2.552e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs751838252	2.002e-05	2.052e-05	1.786e-05	2.221e-05	0.0003	1.405e-05	1.215e-05	0.0002	0.0002	0	0	0	0	0	0	9.019e-07	0	0.0003	6.572e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.014	0.53172	D	0.04	0.50809	D	0.613	0.39753	P	0.186	0.36104	B	0.000123	0.49741	D	0.000000	0.975479	0.39192	D	2.085	0.57729	M	-2.58	0.89757	D	-3.78	0.71519	D	0.176	0.18920	0.093	0.84048	D	0.534	0.82738	D	10	0.3071435	0.48219	T	0.405801	0.93494	D	0.319	0.64112	0.278	0.23164	0.914622070529	0.91376	0.6024143019574176	0.60172	1.34596667386	0.83986	0.793580055237	0.80987	T	0.676471	0.90453	D	-0.186842	0.22723	T	-0.241734	0.50629	T	0.57402628660202	0.35389	D	0.969903	0.89155	D	0.32771075	0.55283	0.32984513	0.58859	0.32771075	0.55283	0.32984513	0.58859	-5.367	0.40601	T	.	.	0.097	0.15654	B	.	.	4.283369	0.65264	24.8	0.99597291220257833	0.73983	0.57037	0.30272	D	AEFDBCI	0.284761	0.39755	N	-0.0645477324138583	0.38954	2.289629	-0.0357458276588416	0.38114	2.24089	0.999992602384124	0.74766	0.437478	0.07067	0	0.491552	0.07993	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	5.03	4.09	0.47038	0.042000	0.13834	5.822000	0.50091	0.525000	0.24333	0.000000	0.06391	1.000000	0.68203	0.986000	0.61781	0.3272:0.6728:0.0:0.0	9.937	0.40726	348	0.85549	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3374.98	35	chr2	74516077	.	C	T	3374.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.84;DP=962;ExcessHet=0.0000;FS=2.049;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.69;ReadPosRankSum=0.769;SOR=0.702	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1081	20	0	1	0
chr2	74530221	74530221	T	C	exonic	HTRA2	.	nonsynonymous SNV	HTRA2:NM_001321727:exon1:c.T215C:p.L72P	3-methylglutaconic aciduria, type VIII, Autosomal recessive	.	0	1490	32	0	0	32	0.0106242	.	.	288021	HTRA2-related_disorder|Parkinson_disease_13,_autosomal_dominant,_susceptibility_to|not_provided	.|MONDO:MONDO:0012466,MedGen:C1853202,OMIM:610297,Orphanet:2828|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.004	B	0.003	B	0.045	N	0.999	N	0.695	N	2.35	T	-1.022	T	0.020	T	0.131	1.800	11.98	-0.323	0.359	0.505	0.962	0.057	.	0.0022	0.00159744	0.0027	0.0009	0.0016	0	0.0002	0.0034	0.0044	0.0037	0.0022703	351	154602	rs150047108	0.0035	0.0035	0.0035	0.0035	0.0040	0.0034	0.0034	0.0039	0.0039	0.0004	0.0018	7.678e-05	0	0.0002	0.0038	0.0040	0.0029	0.0039	0.0021	0.0021	0.0021	0.0021	0.0052	0.0019	0.0018	0.0036	0.0031	0.0007	0	0.0022	0.0003	0.0002	0	0	0.0032	0.0043	0.0052	0.001	0.78490	D	0.127	0.35082	T	0.001	0.12183	B	0.001	0.08700	B	0.044548	0.23626	N	0.267010	0.999493	0.21100	N	0.805	0.20218	L	2.35	0.16217	T	0.55	0.24026	N	0.223	0.32037	-1.0225	0.22899	T	0.020	0.08593	T	10	0.0052509904	0.00115	T	.	.	.	0.057	0.16321	.	.	0.266385636622	0.26244	0.6620386947890653	0.66140	1.39601714628	0.85086	0.625166535378	0.56460	T	0.087708	0.38001	T	-0.575252	0.00206	T	-0.600242	0.12792	T	0.0185566138682526	0.00570	T	0.513449	0.16474	T	0.08012084	0.18341	0.06895128	0.14464	0.060067747	0.12282	0.076975636	0.17103	-6.625	0.51923	T	.	.	0.067	0.02861	B	.;.;.	.;.;.	3.209516	0.43678	21.8	0.99085721058758613	0.52075	0.07325	0.13346	N	AEFDBCI	0.193850	0.32096	N	-0.844093685387519	0.12196	0.5929972	-0.83405054399255	0.13671	0.7104868	0.999998786389603	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	5.0	-0.323	0.12079	0.717000	0.25523	0.738000	0.21138	0.578000	0.29377	0.125000	0.23262	0.641000	0.25915	0.119000	0.19126	0.151:0.1781:0.3127:0.3581	0.962	0.01309	243	0.90483	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.02381	767.98	33	chr2	74530221	.	T	C	767.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.680e-01;DP=784;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.52;ReadPosRankSum=-1.929e+00;SOR=0.752	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1103	20	0	1	0
chr2	74576580	74576580	G	A	exonic	M1AP	.	nonsynonymous SNV	M1AP:NM_001281295:exon6:c.C808T:p.P270S	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.125	M	0.9	T	-0.591	T	0.259	T	0.886	4.107	21.2	5.71	2.689	7.359	15.363	0.472	0.0236138971067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.998202	0.81001	D	2.72	0.79541	M	0.9	0.45248	T	-5.67	0.87143	D	0.88	0.87808	-0.5906	0.65197	T	0.259	0.62966	T	10	0.7351296	0.74567	D	0.023614	0.46588	T	0.472	0.76554	0.45	0.51121	0.269558022972	0.26553	0.6678630298760114	0.66724	0.61853984437	0.56242	0.50489461422	0.39510	T	0.497585	0.81939	T	0.25175	0.78766	D	0.123845	0.78490	D	0.997781336307526	0.92414	D	0.90461	0.66442	D	0.7325764	0.79869	0.7685544	0.86332	0.7325764	0.79871	0.7685544	0.86333	-3.104	0.11342	T	.	.	0.585	0.70101	P	.;.;.	.;.;.	4.565460	0.71987	25.8	0.99921928952978767	0.98787	0.89225	0.49563	D	AEFDBCIJ	0.870142	0.79099	D	0.824267905339337	0.87598	9.273947	0.801786393754398	0.89918	10.17666	0.99999999919925	0.74766	0.632932	0.41330	0	0.624146	0.53433	0	0.601832	0.32385	0	0.530356	0.10902	0	.	.	5.71	5.71	0.89031	7.409000	0.79273	11.914000	0.99653	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0:0.0:1.0:0.0	15.363	0.74207	158	0.93861	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1956.98	34	chr2	74576580	.	G	A	1956.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.99;DP=864;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.94;ReadPosRankSum=-3.410e-01;SOR=0.714	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1398	20	0	1	0
chr2	74880489	74880489	G	A	exonic	HK2	.	nonsynonymous SNV	HK2:NM_000189:exon10:c.G1490A:p.R497Q	.	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.914	P	0.254	B	0.064	N	0.833	D	1.75	L	-4.81	D	0.572	D	0.842	D	0.625	2.628	14.75	0.948	0.054	0.249	8.016	0.644	0.067500261838	0.0006	0.000599042	0.0004	9.733e-05	0.0010	0.0001	0	0.0005	0.0011	6.07e-05	0.0004334	67	154602	rs145124653	0.0004	0.0004	0.0004	0.0005	0.0047	0.0004	0.0004	0.0033	0.0028	8.961e-05	0.0017	0	7.557e-05	1.872e-05	0.0047	0.0004	0.0008	0.0002	0.0010	0.0010	0.0006	0.0013	0.0058	0.0008	0.0008	0.0048	0.0045	7.218e-05	0	0.0058	0	0.0004	0	0.0068	0.0007	0.0009	0.0006	0.148	0.25154	T	0.344	0.20293	T	0.914	0.50529	P	0.254	0.39164	B	0.064231	0.21967	N	0.471570	0.833207	0.34950	D	1.355	0.33814	L	-4.81	0.98183	D	-1.38	0.35399	N	0.601	0.69562	0.572	0.91535	D	0.842	0.94736	D	10	0.037165135	0.02055	T	0.068	0.70184	D	0.644	0.86485	.	.	0.901481142098	0.90050	0.2959695514716237	0.29509	0.477027003376	0.46822	0.228934794664	0.01890	T	0.451168	0.79200	T	-0.146906	0.28798	T	0.00893949	0.70914	D	0.0240572653782406	0.01152	T	0.840516	0.51562	T	0.09092838	0.21293	0.089599505	0.20960	0.09092838	0.21293	0.089599505	0.20960	-5.933	0.45716	T	.	.	0.085	0.13221	B	.;.	.;.	2.390499	0.30700	18.52	0.9936598019286732	0.61240	0.36220	0.25483	N	AEFBCI	0.223826	0.34814	N	-0.389745419070266	0.25834	1.405318	-0.456308927691798	0.23369	1.274108	0.997446584822794	0.35625	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.08	0.948	0.18685	-0.202000	0.09453	1.006000	0.23296	0.676000	0.76740	0.000000	0.06391	0.020000	0.20764	0.975000	0.56047	0.3937:0.0:0.6063:0.0	8.016	0.29541	236	0.90801	Hexokinase, N-terminal;Hexokinase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1786.98	41	chr2	74880489	.	G	A	1786.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.02;DP=846;ExcessHet=0.0000;FS=3.382;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.91;MQRankSum=1.14;QD=15.27;ReadPosRankSum=-1.100e-01;SOR=0.448	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1432	20	0	1	0
chr2	75493264	75493264	C	A	exonic	EVA1A	.	nonsynonymous SNV	EVA1A:NM_001135032:exon4:c.G431T:p.G144V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.997	D	0.844	P	0.000	D	1.000	D	2.62	M	0.71	T	-0.535	T	0.264	T	0.853	2.891	15.63	3.9	1.284	2.488	13.401	0.276	0.0399738523352	.	.	2.578e-05	0	0	0.0002	0	1.561e-05	0	0	1.94e-05	3	154602	rs767429995	1.848e-05	1.847e-05	1.77e-05	1.926e-05	0.0004	1.265e-05	1.085e-05	0.0002	0.0002	0	0	0	0.0004	0	0	8.995e-06	3.314e-05	1.16e-05	1.969e-05	1.968e-05	3.853e-05	0	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.157	0.23997	T	0.05	0.48080	T	0.997	0.70673	D	0.844	0.60373	P	0.000000	0.84330	D	0.045344	1	0.81001	D	2.435	0.70606	M	0.71	0.51228	T	-4.68	0.79659	D	0.341	0.44474	-0.5349	0.67356	T	0.264	0.63523	T	10	0.286853	0.46268	T	0.039974	0.59116	D	0.276	0.59253	0.243	0.17677	0.661350065395	0.65851	0.562155811928762	0.56142	1.26157063712	0.82044	0.650109052658	0.60002	T	0.083065	0.36970	T	0.011842	0.53277	T	0.0049355	0.70656	D	0.960152089595795	0.65727	D	0.943706	0.78720	D	0.41715324	0.61902	0.28644097	0.54652	0.41715324	0.61903	0.28644097	0.54651	-10.648	0.77693	D	.	.	0.210	0.48561	B	.;.;.;.;.	.;.;.;.;.	3.231974	0.44079	21.9	0.99394340317797092	0.62474	0.87347	0.46858	D	AEFDBHCI	0.782436	0.71372	D	0.33199846681504	0.57798	3.948623	0.203845856830313	0.50061	3.202111	0.99999606827005	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	4.79	3.9	0.44240	2.616000	0.46041	1.311000	0.25538	0.599000	0.40250	0.996000	0.39380	0.063000	0.22074	0.165000	0.20815	0.0:0.8399:0.16:0.0	13.401	0.60327	952	0.10565	EVA1 domain;EVA1 domain;EVA1 domain;EVA1 domain;EVA1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	893.98	37	chr2	75493264	.	C	A	893.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.928e+00;DP=779;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=1.48;SOR=0.731	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1150	20	0	1	0
chr2	75652233	75652233	G	A	exonic	MRPL19	.	nonsynonymous SNV	MRPL19:NM_014763:exon3:c.G313A:p.V105I,	.	.	441	1063	17	1	0	19	0.00885781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.049	B	0.139	B	0.006	N	1.000	D	2.1	M	.	.	-0.902	T	0.160	T	0.053	1.877	12.24	-0.463	-0.205	2.018	10.753	0.093	.	0.0066	0.00698882	0.0064	0.0015	0.0051	0	0.0038	0.0089	0.0067	0.0050	0.0067205	1039	154602	rs41382847	0.0078	0.0079	0.0077	0.0078	0.0135	0.0076	0.0076	0.0110	0.0101	0.0015	0.0069	0.0156	7.605e-05	0.0035	0.0135	0.0084	0.0089	0.0051	0.0072	0.0072	0.0072	0.0071	0.0106	0.0068	0.0067	0.0093	0.0088	0.0019	0.0648	0.0106	0.0173	0	0.0035	0.0238	0.0092	0.0118	0.0077	0.337	0.12837	T	0.609	0.18232	T	0.049	0.22227	B	0.139	0.33484	B	0.005705	0.32572	N	0.350899	0.820154	0.34764	D	2.215	0.62545	M	.	.	.	-0.62	0.18248	N	0.131	0.13341	-0.9021	0.47771	T	0.160	0.49497	T	9	0.0036410093	0.00067	T	.	.	.	0.093	0.26882	.	.	0.388970301349	0.38507	0.38865756458208917	0.38780	0.124701401956	0.14047	0.263330161572	0.05293	T	0.02843	0.20599	T	-0.562607	0.00245	T	-0.574808	0.15011	T	0.0129354608994399	0.00223	T	0.846715	0.52677	T	0.061409265	0.12713	0.058713328	0.10896	0.061409265	0.12713	0.058713328	0.10895	-4.238	0.27298	T	.	.	0.071	0.08802	B	.;.;.;.	.;.;.;.	1.401483	0.18154	13.58	0.88444799273911778	0.17982	0.87846	0.47528	D	AEFBI	0.224617	0.34882	N	-0.429890856278066	0.24428	1.318859	-0.37311085757294	0.25802	1.421183	0.988494046095323	0.31535	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.85	-0.463	0.11557	2.128000	0.41668	0.714000	0.20960	-0.113000	0.14837	1.000000	0.71638	0.981000	0.30433	0.996000	0.76049	0.3156:0.0:0.6844:0.0	10.753	0.45421	958	0.09170	.;.;.;.	RP11-342K6.2|MRPL19	Muscle_Skeletal|Nerve_Tibial	GCFC2	Brain_Nucleus_accumbens_basal_ganglia	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	325.98	33	chr2	75652233	.	G	A	325.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.140e-01;DP=737;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.94;ReadPosRankSum=-2.200e-02;SOR=0.576	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1033	20	0	1	0
chr2	75689214	75689214	G	T	exonic	GCFC2	.	nonsynonymous SNV	GCFC2:NM_001201334:exon10:c.C844A:p.Q282K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	0.027	B	0.012	B	0.089	N	0.994	N	0.955	L	2.63	T	-0.961	T	0.020	T	0.112	-0.783	0.722	3.8	1.033	0.741	7.753	0.058	0.00321354024211	.	0.000399361	9.148e-05	0	0	0.0012	0	1.511e-05	0	0	8.41e-05	13	154602	rs187749452	9.14e-06	1.642e-05	9.821e-06	8.457e-06	0.0002	5.1e-06	3.93e-06	0.0001	8.856e-05	0	0	0	0.0002	0	0	0	0	4.781e-05	2.629e-05	2.625e-05	1.286e-05	4.032e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.381e-05	0	0	0	0	0.0006	0	0	0	0	0.0002	0.858	0.02684	T	0.188	0.28669	T	0.027	0.19556	B	0.012	0.16012	B	0.088765	0.20463	N	0.523932	0.999268	0.23357	N	0.84	0.21119	L	2.62	0.12988	T	-0.36	0.13035	N	0.181	0.24260	-0.9610	0.38993	T	0.020	0.08453	T	10	0.012213767	0.00263	T	0.003214	0.07057	T	0.058	0.16647	.	.	0.167679373172	0.16340	0.18075085904401533	0.17994	0.114616797068	0.12926	0.284994721413	0.08198	T	0.016387	0.13553	T	-0.550707	0.00289	T	-0.657744	0.08418	T	0.024569147987575	0.01217	T	0.610139	0.23115	T	0.06803471	0.14787	0.049918775	0.07728	0.06803471	0.14786	0.049918775	0.07728	-6.051	0.46703	T	.	.	0.079	0.07412	B	.;.	.;.	2.056745	0.26148	17.02	0.72012629930230654	0.09825	0.48190	0.28151	N	AEFBI	0.085655	0.17364	N	-0.485645776220878	0.22551	1.204894	-0.316637581225131	0.27561	1.530203	0.00920931828376598	0.11815	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.71	3.8	0.42887	0.535000	0.22822	4.881000	0.45666	0.676000	0.76740	0.913000	0.31760	1.000000	0.68203	0.981000	0.58702	0.0:0.1671:0.6291:0.2038	7.753	0.28076	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	768.98	35	chr2	75689214	.	G	T	768.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=737;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.69;ReadPosRankSum=2.03;SOR=0.714	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr2	79027903	79027903	G	A	exonic	REG3G	.	nonsynonymous SNV	REG3G:NM_001270040:exon4:c.G292A:p.G98S	.	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.825	P	0.725	P	0.002	N	1.000	N	1.75	L	2.23	T	-1.105	T	0.070	T	0.143	3.185	16.66	2.9	1.328	1.661	5.986	0.036	0.00605639622186	0.0008	0.000998403	0.0009	0.0002	0.0003	0	0.0012	0.0012	0.0033	0.0012	0.0009508	147	154602	rs149243674	0.0012	0.0012	0.0012	0.0012	0.0013	0.0012	0.0012	0.0013	0.0013	0.0001	0.0003	7.653e-05	0	0.0020	0.0009	0.0013	0.0012	0.0011	0.0008	0.0008	0.0007	0.0008	0.0012	0.0006	0.0006	0.0010	0.0009	9.633e-05	0	0.0005	0	0	0.0015	0	0.0012	0.0014	0.0008	0.014	0.53172	D	0.084	0.45530	T	0.644	0.40509	P	0.596	0.50617	P	0.002139	0.37183	N	0.122449	1	0.08975	N	2.55	0.74443	M	2.23	0.19311	T	-4.92	0.83224	D	0.315	0.38027	-1.1054	0.03497	T	0.070	0.28577	T	10	0.022979647	0.00588	T	0.006056	0.15816	T	0.036	0.09122	.	.	0.389750110748	0.38591	0.2531217076038667	0.25226	0.0783650798132	0.08816	0.416141748428	0.27305	T	0.026269	0.19473	T	-0.554084	0.00275	T	-0.598759	0.12915	T	0.0881015911426633	0.10990	T	0.758424	0.38228	T	0.21697932	0.44170	0.28478312	0.54478	0.21697932	0.44170	0.28478312	0.54477	-5.01	0.36948	T	.	.	0.246	0.49098	B	.;.;.	.;.;.	2.262385	0.28910	17.95	0.99003895905632622	0.50210	0.07146	0.13171	N	AEFI	0.121472	0.23615	N	-0.19011587455927	0.33546	1.904327	-0.337278258794687	0.26905	1.489242	4.73482427790219E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.73	2.9	0.32809	1.157000	0.31335	0.126000	0.14982	0.676000	0.76740	0.021000	0.19753	0.000000	0.08366	0.011000	0.09372	0.2297:0.0:0.7703:0.0	5.986	0.18666	979	0.04160	C-type lectin-like|C-type lectin-like|C-type lectin-like;C-type lectin-like|C-type lectin-like|C-type lectin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2117.98	35	chr2	79027903	.	G	A	2117.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.851;DP=870;ExcessHet=0.0000;FS=1.193;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=-6.300e-02;SOR=0.580	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr2	79158731	79158731	G	T	exonic	REG3A	.	nonsynonymous SNV	REG3A:NM_138938:exon2:c.C115A:p.R39S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.0	B	0.037	N	1.000	N	-2.015	N	2.64	T	-0.935	T	0.007	T	0.056	-0.932	0.374	2.66	0.771	1.092	7.457	0.022	0.00112225708441	.	.	2.493e-05	0	0	0	0	4.524e-05	0	0	1.94e-05	3	154602	rs141740162	3.437e-06	0.0007	1.366e-06	5.532e-06	3.554e-05	1.01e-06	7.3e-07	9.44e-06	4.62e-06	0	2.28e-05	0	0	0	0	9.017e-07	0	3.554e-05	6.645e-06	0.0009	0	1.361e-05	1.481e-05	0	0	.	.	0	0	0	0	0	0	0	1.481e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.0	0.01387	B	0.037403	0.24405	N	0.400827	1	0.08975	N	-2.765	0.00026	N	2.64	0.12780	T	3.27	0.00108	N	0.061	0.03502	-0.9351	0.43379	T	0.007	0.02244	T	10	0.08776298	0.15048	T	0.001122	0.01360	T	0.022	0.04323	.	.	0.0401082797425	0.02173	0.23763958079538905	0.23677	0.0547631763429	0.06061	0.20862942934	0.00754	T	0.021425	0.16689	T	-0.398869	0.02355	T	-0.810724	0.01649	T	0.0314632799417354	0.02220	T	0.0610939	0.00444	T	0.24203835	0.47127	0.078462504	0.17576	0.24203835	0.47126	0.078462504	0.17575	-1.334	0.01457	T	.	.	0.132	0.28778	B	.;.;.	.;.;.	0.622617	0.09910	6.670	0.71659157753313818	0.09704	0.00024	0.00244	N	AEFGI	0.042367	0.06565	N	-1.53127221375122	0.01647	0.07204684	-1.40102100368093	0.03242	0.1508413	1.10306997856234E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.83	2.66	0.30672	1.142000	0.31152	-0.207000	0.10889	-0.832000	0.02862	0.480000	0.26800	0.000000	0.08366	0.003000	0.05239	0.0:0.0:0.2961:0.7039	7.457	0.26440	956	0.09877	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	148.11	42	chr2	79158731	.	G	T	148.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.81;DP=1262;ExcessHet=0.1072;FS=31.424;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.16;MQRankSum=-1.265e+01;QD=0.33;ReadPosRankSum=-5.185e+00;SOR=4.955	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	19	0	2	0
chr2	84443366	84443366	C	T	exonic	SUCLG1	.	nonsynonymous SNV	SUCLG1:NM_003849:exon3:c.G236A:p.G79D,	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), Autosomal recessive	YES	0	1515	7	0	0	7	0.00230491	.	.	200025	Mitochondrial_DNA_depletion_syndrome|Mitochondrial_DNA_depletion_syndrome_9|not_provided|SUCLG1-related_disorder|not_specified	MONDO:MONDO:0018158,MedGen:C0342782,OMIM:PS603041,Orphanet:35698|MONDO:MONDO:0009504,MedGen:C3151476,OMIM:245400,Orphanet:17|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.3	H	-2.8	D	1.065	D	0.917	D	0.978	4.098	21.1	5.9	2.808	7.818	17.771	0.915	0.359913555663	0.0011	0.000599042	0.0014	0.0003	0.0010	0	0.0002	0.0023	0.0033	0	0.0013842	214	154602	rs143030960	0.0014	0.0014	0.0014	0.0014	0.0023	0.0014	0.0014	0.0015	0.0015	0.0002	0.0011	0.0060	0	0.0002	0.0023	0.0016	0.0016	3.478e-05	0.0010	0.0010	0.0010	0.0009	0.0014	0.0008	0.0008	0.0011	0.0011	0.0004	0.0066	0.0006	0.0066	0	0	0	0.0014	0.0005	0	0.002	0.72154	D	0.005	0.72224	D	0.998	0.73220	D	0.978	0.74104	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.75	0.99567	H	-2.8	0.91076	D	-6.27	0.90648	D	0.983	0.99260	1.065	0.98458	D	0.917	0.97267	D	10	0.16022444	0.30085	T	0.359914	0.92485	D	0.915	0.97776	.	.	0.9926914044	0.99260	0.948245519256547	0.94807	0.292823477576	0.31705	0.750353336334	0.74499	T	0.788196	0.94471	D	0.176874	0.71756	D	0.474507	0.94093	D	0.222433403134346	0.21584	T	0.982502	0.94093	D	0.9234007	0.93580	0.83897597	0.90770	0.9234007	0.93581	0.83897597	0.90771	-11.023	0.79785	D	0.47542989893253995	0.55509	0.285	0.51763	B	.	.	5.097245	0.85145	28.5	0.99566450329433309	0.72136	0.98923	0.88681	D	AEFGBI	0.957157	0.97616	D	1.07405079728207	0.97624	16.45562	0.971905966767046	0.98006	17.21681	0.999999999999843	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	7.892000	0.85858	7.587000	0.61135	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.786000	0.37147	0.0:1.0:0.0:0.0	17.771	0.88401	807	0.43470	CoA-binding|CoA-binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1784.11	34	chr2	84443366	.	C	T	1784.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.626e+00;DP=798;ExcessHet=0.1072;FS=1.342;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.74;ReadPosRankSum=0.177;SOR=0.863	GT:AD:DP:GQ:PL	0/1:38,38:76:99:967,0,1063	19	0	2	0
chr2	84584059	84584059	T	C	exonic	DNAH6	.	nonsynonymous SNV	DNAH6:NM_001370:exon15:c.T2290C:p.Y764H,	.	.	436	1076	10	0	0	10	0.00462535	.	.	3192400	DNAH6-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.988	D	0.001	N	0.893	D	1.955	M	1.77	T	-0.747	T	0.174	T	0.675	2.484	14.27	5.73	2.180	6.167	14.995	0.183	.	.	0.00579073	0.0038	0	0.0004	0	0	0	0	0.0273	0.0032276	499	154602	rs200199170	0.0016	0.0016	0.0009	0.0024	0.0258	0.0015	0.0015	0.0249	0.0246	0	2.236e-05	0	0	0	0.0012	1.169e-05	0.0016	0.0258	0.0008	0.0008	0.0004	0.0013	0.0261	0.0007	0.0007	0.0224	0.0210	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0261	0.051	0.39334	T	.	.	.	0.614	0.39766	P	0.293	0.40773	B	0.001272	0.39594	N	0.000000	0.892514	0.35984	D	2.32	0.66415	M	1.67	0.27331	T	-4.11	0.74980	D	0.739	0.74098	-0.7467	0.58107	T	0.174	0.51785	T	10	0.0076731145	0.00174	T	.	.	.	0.183	0.45592	0.436	0.48828	0.408853032482	0.40503	0.7354688801750067	0.73491	0.147024445095	0.16587	0.763294935226	0.76421	T	0.038791	0.24963	T	-0.335125	0.05734	T	-0.234563	0.51328	T	0.146278109477469	0.16804	T	0.777622	0.41060	T	0.29990986	0.52897	0.32841283	0.58730	0.29990986	0.52897	0.32841283	0.58729	-5.546	0.42296	T	.	.	0.335	0.55549	B	.;.	.;.	3.978615	0.58476	24.0	0.99183095809638688	0.54730	0.93454	0.58260	D	AEI	0.637185	0.61606	D	0.439094723694174	0.63586	4.595334	0.446326584897032	0.64482	4.704304	0.907342551405763	0.26256	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.73	5.73	0.89730	6.144000	0.71525	7.829000	0.70041	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.884000	0.42379	0.0:0.0:0.0:1.0	14.995	0.71077	823	0.40596	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1442.98	34	chr2	84584059	.	T	C	1442.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=836;ExcessHet=0.0000;FS=2.159;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.23;ReadPosRankSum=-1.280e-01;SOR=0.560	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1231	20	0	1	0
chr2	84619759	84619759	A	T	exonic	DNAH6	.	nonsynonymous SNV	DNAH6:NM_001370:exon24:c.A3647T:p.H1216L,	.	.	434	1066	22	0	0	22	0.0102136	.	.	3221642	DNAH6-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.994	D	.	.	1.000	D	2.84	M	-0.32	T	0.166	D	0.518	D	0.91	4.655	25.6	5.0	1.885	8.904	13.717	0.726	0.287306943384	0.0002	0.000599042	0.0027	0	0	0	0	0.0010	0	0.0064	0.000414	64	154602	rs367551290	0.0005	0.0005	0.0003	0.0007	0.0059	0.0005	0.0005	0.0055	0.0053	0	0.0002	0.0036	0	2.025e-05	0.0021	8.064e-05	0.0006	0.0059	0.0002	0.0002	0.0002	0.0003	0.0039	0.0002	0.0002	0.0026	0.0021	0	0	0	0.0032	0	0	0	8.82e-05	0.0005	0.0039	0.002	0.72154	D	.	.	.	1.0	0.90584	D	0.994	0.82059	D	.	.	.	.	0.999906	0.50806	D	3.86	0.95841	H	-0.32	0.68181	T	-9.94	0.98767	D	0.754	0.75559	0.166	0.85333	D	0.518	0.81990	D	9	0.036367	0.01932	T	0.287307	0.90442	D	0.726	0.90369	.	.	0.777960513408	0.77591	0.865096577779505	0.86474	0.501682463928	0.48545	0.623549222946	0.56230	T	0.509166	0.82612	D	0.0423664	0.57355	T	0.290553	0.87709	D	0.288859407349234	0.24542	T	0.954105	0.82551	D	0.6581019	0.75797	0.7632945	0.86016	0.6581019	0.75798	0.7632945	0.86017	-15.236	0.96382	D	.	.	0.919	0.84161	P	.;.	.;.	4.329581	0.66332	24.9	0.97849179643389239	0.36385	0.98760	0.86500	D	AEFI	0.911771	0.87149	D	0.832401136101166	0.88086	9.447688	0.769030768999676	0.87573	9.268184	0.985059572233249	0.30820	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.0	5.0	0.66209	9.212000	0.94233	11.148000	0.87267	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	1.0:0.0:0.0:0.0	13.717	0.62186	705	0.57330	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2046.98	40	chr2	84619759	.	A	T	2046.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=856;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=-1.181e+00;SOR=0.643	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1158	20	0	1	0
chr2	84621332	84621332	G	T	exonic	DNAH6	.	nonsynonymous SNV	DNAH6:NM_001370:exon25:c.G3934T:p.V1312L,	.	.	436	1075	11	0	0	11	0.00509024	.	.	3206927	DNAH6-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.04	D	0.011	B	0.02	B	.	.	0.994	D	0.55	N	0.31	T	-0.938	T	0.139	T	0.641	3.358	17.31	5.02	2.326	6.289	17.109	0.207	.	.	0.00698882	0.0111	0	0.0049	0.0016	0	0	0	0.0299	0.0018823	291	154602	rs536205406	0.0018	0.0017	0.0010	0.0026	0.0291	0.0017	0.0017	0.0281	0.0277	0	2.801e-05	0	0.0009	0	0.0014	1.39e-05	0.0020	0.0291	0.0011	0.0011	0.0006	0.0016	0.0313	0.0010	0.0009	0.0272	0.0257	0	0	0	0	0.0025	0	0	1.47e-05	0.0005	0.0313	0.195	0.20759	T	.	.	.	0.011	0.15914	B	0.02	0.19048	B	.	.	.	.	0.993671	0.42016	D	1.065	0.27018	L	0.31	0.58613	T	-1.1	0.28497	N	0.556	0.58117	-0.9377	0.42979	T	0.139	0.45810	T	9	0.0050103962	0.00108	T	.	.	.	0.207	0.49555	0.729	0.86286	0.57674044448	0.57342	0.8791307904824415	0.87880	0.0816516279141	0.09195	0.569755673409	0.48643	T	0.005429	0.04881	T	-0.319592	0.06931	T	-0.210219	0.53675	T	0.0455757744952358	0.04706	T	0.80432	0.45191	T	0.21282794	0.43646	0.22386102	0.47278	0.21282794	0.43646	0.22386102	0.47277	-6.472	0.50070	T	.	.	0.311	0.53861	B	.;.	.;.	4.724952	0.76048	26.4	0.99273695377691173	0.57661	0.96174	0.67873	D	AEFI	0.742885	0.68636	D	-0.0139051730231737	0.41226	2.462145	0.183516655819133	0.48944	3.10372	0.999101509176022	0.38452	0.549168	0.22868	0	0.588015	0.36545	0	0.624306	0.44879	0	0.616125	0.45549	0	.	.	5.02	5.02	0.66742	5.338000	0.65718	11.769000	0.95814	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	17.109	0.86547	698	0.58074	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1693.98	34	chr2	84621332	.	G	T	1693.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.26;DP=829;ExcessHet=0.0000;FS=1.356;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=0.870;SOR=0.562	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1157	20	0	1	0
chr2	84745150	84745150	C	A	exonic	DNAH6	.	nonsynonymous SNV	DNAH6:NM_001370:exon63:c.C10413A:p.H3471Q,	.	.	441	1080	1	0	0	1	0.000462749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.0	B	0.0	B	0.000	N	1.000	N	0.145	N	1.88	T	-1.050	T	0.021	T	0.038	-0.062	3.697	0.041	0.195	-0.760	1.340	0.049	0.00451918755425	0.0024	0.00219649	0.0008	0.0079	0	0	0	0	0	0	0.0002393	37	154602	rs61731722	0.0002	0.0002	0.0003	0.0002	0.0093	0.0002	0.0002	0.0084	0.0081	0.0093	0.0003	0	0	0	0.0002	6.497e-06	0.0005	0	0.0028	0.0028	0.0030	0.0025	0.0099	0.0025	0.0025	0.0091	0.0088	0.0099	0	0.0003	0	0	0	0	2.941e-05	0.0009	0.0002	0.349	0.12345	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	0.000001	0.00162	N	9.780560	1	0.08975	N	-1.04	0.01097	N	1.88	0.23884	T	-0.66	0.19085	N	0.047	0.03392	-1.0496	0.14509	T	0.021	0.08686	T	10	0.0058279037	0.00130	T	0.004519	0.11125	T	0.049	0.13647	0.288	0.24761	0.0666544352282	0.05500	0.08516813317625908	0.08450	0.0811084518359	0.09126	0.331215023994	0.15118	T	0.001338	0.00808	T	-0.728399	0.00024	T	-0.809676	0.01673	T	0.0154781509797788	0.00349	T	0.243776	0.03556	T	0.05396424	0.10287	0.0348504	0.02627	0.05396424	0.10286	0.0348504	0.02627	-2.265	0.04368	T	.	.	0.093	0.14155	B	.;.	.;.	-0.321161	0.02526	0.301	0.4491477882664181	0.03487	0.01687	0.05379	N	AEFI	0.058828	0.11065	N	-1.21223617863128	0.04821	0.2184189	-1.23591555235071	0.05343	0.2543362	7.81911135387466E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.45	0.041	0.13530	-0.475000	0.06678	-2.533000	0.03639	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.255:0.4119:0.2018:0.1313	1.340	0.02022	612	0.66786	Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	656.98	38	chr2	84745150	.	C	A	656.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.480;DP=759;ExcessHet=0.0000;FS=0.912;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.39;ReadPosRankSum=-1.929e+00;SOR=0.861	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1073	20	0	1	0
chr2	85133718	85133718	G	A	exonic	TCF7L1	.	nonsynonymous SNV	TCF7L1:NM_031283:exon1:c.G34A:p.G12S,	.	.	308	1204	8	2	0	12	0.00495868	.	.	2812057	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.039	B	0.003	B	.	.	1.000	N	0.55	N	-4.92	D	0.337	D	0.813	D	0.388	0.364	5.976	1.79	0.245	1.853	7.497	0.351	0.301119982157	.	0.00299521	0	0	.	.	.	0	.	.	0.00146	38	26028	rs534725385	0.0079	0.0062	0.0081	0.0077	0.0075	0.0078	0.0077	0.0074	0.0073	0.0006	0.0012	0.0037	0	0.0554	0.0008	0.0075	0.0073	0.0046	0.0080	0.0083	0.0061	0.0099	0.0089	0.0076	0.0074	0.0083	0.0080	0.0014	0.0143	0.0019	0.0041	0	0.0484	0	0.0089	0.0068	0.0056	0.31	0.14017	T	0.568	0.08870	T	0.039	0.21116	B	0.003	0.08700	B	.	.	.	.	0.999526	0.21047	N	0.55	0.14455	N	-4.92	0.98371	D	-0.28	0.11547	N	0.306	0.34552	0.337	0.88140	D	0.813	0.93694	D	9	0.0069305897	0.00157	T	0.30112	0.90885	D	0.351	0.67234	.	.	0.877362171508	0.87616	0.25283890564012823	0.25197	1.19061195492	0.80273	0.84709250927	0.89175	D	0.108855	0.42224	T	0.119098	0.66283	D	-0.0667	0.65861	T	0.0584894600446997	0.06929	T	0.479552	0.14466	T	0.08004834	0.18321	0.11057063	0.26662	0.08004834	0.18321	0.11057063	0.26661	-6.343	0.49063	T	.	.	0.120	0.24867	B	.	.	1.700211	0.21659	15.29	0.88919460910643844	0.18362	0.17815	0.19999	N	AEFDBCI	0.104676	0.20938	N	-0.883882048248012	0.11225	0.5405847	-0.906592868156542	0.11939	0.6112602	0.999983915956437	0.51787	0.59774	0.34471	0	0.596491	0.49125	0	0.231153	0.04653	2	0.621717	0.48901	0	.	.	2.7	1.79	0.23992	2.258000	0.42905	0.836000	0.21996	0.220000	0.18069	0.947000	0.32937	0.789000	0.26847	0.061000	0.16044	0.1442:0.0:0.8558:0.0	7.497	0.26664	829	0.39537	CTNNB1 binding, N-teminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1040.98	33	chr2	85133718	.	G	A	1040.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.695;DP=738;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.95;ReadPosRankSum=0.444;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485	20	0	1	0
chr2	85326932	85326932	G	T	exonic	TGOLN2	.	nonsynonymous SNV	TGOLN2:NM_001206841:exon2:c.C800A:p.S267Y	.	.	434	1080	8	0	0	8	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.994	D	0.906	P	.	.	1.000	N	1.59	L	2.67	T	-1.075	T	0.040	T	0.191	2.560	14.52	0.869	0.354	-0.580	4.486	0.019	0.00565292153595	0.0032	0.00319489	0.0048	0.0010	0.0057	0	0.0095	0.0062	0.0045	0.0014	0.0042755	661	154602	rs145218072	0.0049	0.0049	0.0050	0.0048	0.0061	0.0048	0.0048	0.0055	0.0053	0.0010	0.0061	0.0042	0	0.0087	0.0059	0.0052	0.0058	0.0018	0.0043	0.0043	0.0037	0.0049	0.0065	0.0040	0.0039	0.0055	0.0051	0.0014	0.0066	0.0065	0.0043	0	0.0110	0.0068	0.0050	0.0066	0.0010	0.002	0.72154	D	0.022	0.59732	D	0.994	0.66517	D	0.906	0.64351	P	.	.	.	.	1	0.08975	N	1.935	0.51832	L	2.65	0.12676	T	-3.48	0.69950	D	0.151	0.28965	-1.0749	0.08369	T	0.040	0.17191	T	9	0.0033238232	0.00057	T	0.005653	0.14621	T	0.019	0.03383	.	.	0.37281450598	0.36888	0.048835434568265536	0.04826	.	.	0.283387959003	0.07970	T	0.184947	0.53777	T	-0.557835	0.00261	T	-0.570062	0.15444	T	0.0397295307880315	0.03642	T	0.594241	0.21993	T	0.1014517	0.23964	0.13045268	0.31346	0.1014517	0.23963	0.13045268	0.31345	-7.26	0.55911	T	.	.	0.242	0.48746	B	.;.;.;.;.	.;.;.;.;.	2.627694	0.34164	19.55	0.9889654910202933	0.48109	0.05494	0.11380	N	ALL	0.067764	0.13336	N	-0.250207697878437	0.31094	1.740208	-0.490339760362394	0.22419	1.21756	0.999999999998003	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	3.86	0.869	0.18233	1.281000	0.32819	5.500000	0.48770	0.665000	0.62972	0.010000	0.18352	0.902000	0.27988	0.060000	0.15972	0.2129:0.0:0.6057:0.1814	4.486	0.11201	894	0.26265	.;.;.;.;.	.	.	.	.	rs145218072	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	5023.98	35	chr2	85326932	.	G	T	5023.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.705e+00;DP=2554;ExcessHet=0.0000;FS=1.496;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.40;ReadPosRankSum=-6.230e-01;SOR=0.602	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:142,0:142:99:.:.:0,120,1800	20	0	1	0
chr2	85327310	85327310	C	T	exonic	TGOLN2	.	nonsynonymous SNV	TGOLN2:NM_001206841:exon2:c.G422A:p.G141D	.	.	434	1077	11	0	0	11	0.00508083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	1.0	D	0.999	D	.	.	0.999	N	1.845	L	2.85	T	-1.070	T	0.024	T	0.08	1.953	12.49	-2.69	-1.334	-4.132	6.667	0.029	.	0.0087	0.00499201	0.0109	0.0012	0.0037	0	0.0426	0.0133	0.0122	0.0047	0.0096377	1490	154602	rs112065068	0.0095	0.0095	0.0096	0.0095	0.0092	0.0094	0.0093	0.0090	0.0090	0.0011	0.0044	0.0119	0	0.0415	0.0050	0.0092	0.0097	0.0042	0.0089	0.0090	0.0082	0.0097	0.0102	0.0085	0.0084	0.0096	0.0094	0.0014	0.0198	0.0067	0.0116	0	0.0379	0	0.0102	0.0118	0.0031	0.132	0.48642	T	0.319	0.21343	T	0.05	0.90584	B	0.012	0.92359	B	.	.	.	.	1	0.21926	N	1.7	0.43825	L	2.79	0.11407	T	0.06	0.29323	N	0.034	0.08227	-1.0703	0.09348	T	0.024	0.10148	T	9	0.0029195845	0.00047	T	.	.	.	0.029	0.06676	.	.	.	.	0.01608159370969993	0.01564	.	.	0.272554308176	0.06476	T	0.016856	0.13851	T	-0.672882	0.00053	T	-0.727649	0.04434	T	0.00880947896720428	0.00109	T	0.410359	0.12582	T	0.04474191	0.07206	0.08999692	0.21079	0.04474191	0.07206	0.08999692	0.21079	-6.693	0.51788	T	.	.	0.106	0.27762	B	.;.;.;.;.;.	.;.;.;.;.;.	0.006282	0.04325	1.097	0.9727361721909682	0.33149	0.00306	0.01624	N	AEFDGBCIJ	0.030488	0.03080	N	-1.31715321820235	0.03478	0.155465	-1.53042365155735	0.02114	0.09672675	0.99999991738194	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	1.34	-2.69	0.05668	-4.112000	0.00331	-1.227000	0.05970	-0.356000	0.05535	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.363:0.0:0.637	6.667	0.22239	894	0.26265	.;.;.;.;.;.	.	.	.	.	rs112065068	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	7440.98	35	chr2	85327310	.	C	T	7440.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.02;DP=1620;ExcessHet=0.0000;FS=1.746;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.98;MQRankSum=0.00;QD=12.92;ReadPosRankSum=-1.292e+00;SOR=0.559	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr2	85343319	85343319	C	T	exonic	RETSAT	.	nonsynonymous SNV	RETSAT:NM_017750:exon11:c.G1756A:p.A586T,	.	.	407	1094	21	0	0	21	0.00950656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.526	P	0.127	B	0.021	N	0.886	D	0.955	L	1.87	T	-1.051	T	0.022	T	0.395	1.493	10.94	2.79	1.239	0.516	5.069	0.041	.	0.0089	.	0.0086	0.0052	0.0056	0	0.0086	0.0119	0.0198	0.0030	0.0078524	1214	154602	rs143283662	0.0081	0.0095	0.0081	0.0081	0.0296	0.0080	0.0079	0.0260	0.0246	0.0051	0.0044	0.0146	2.519e-05	0.0085	0.0296	0.0088	0.0092	0.0023	0.0079	0.0087	0.0082	0.0077	0.0109	0.0076	0.0074	0.0102	0.0100	0.0045	0.0044	0.0069	0.0168	0.0002	0.0054	0.0340	0.0109	0.0128	0.0037	0.359	0.11957	T	0.435	0.13518	T	0.392	0.34646	B	0.06	0.26717	B	0.021399	0.26843	N	0.378221	0.886002	0.35849	D	1.145	0.29067	L	1.85	0.24472	T	-0.13	0.08971	N	0.027	0.00571	-1.0511	0.14092	T	0.022	0.09330	T	10	0.0038142502	0.00072	T	.	.	.	0.041	0.10877	.	.	0.0806252709748	0.07271	0.34702988945191915	0.34616	0.0721809193313	0.08090	0.345627218485	0.17275	T	0.003362	0.02768	T	-0.485256	0.00690	T	-0.462848	0.26288	T	0.00579000855353255	0.00063	T	0.782822	0.41925	T	0.0648611	0.13805	0.06569235	0.13352	0.0648611	0.13805	0.06569235	0.13352	-6.015	0.46406	T	.	.	0.074	0.05145	B	.	.	2.508222	0.32389	19.03	0.97707709646145702	0.35477	0.14533	0.18453	N	AEFDGBI	0.082621	0.16731	N	-0.468265707214611	0.23126	1.23968	-0.422141506085331	0.24348	1.332844	0.905570000125748	0.26208	0.631515	0.41029	0	0.697927	0.68747	0	0.606735	0.37207	0	0.741806	0.99463	0	.	.	5.02	2.79	0.31792	0.546000	0.22991	0.355000	0.17517	0.505000	0.23025	0.159000	0.23783	0.026000	0.21063	0.654000	0.32802	0.0:0.6331:0.0:0.3669	5.069	0.13935	888	0.27761	.	.	.	.	.	chr2:85570442	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	624.98	36	chr2	85343319	.	C	T	624.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=830;ExcessHet=0.0000;FS=1.687;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.88;ReadPosRankSum=2.30;SOR=0.879	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1295	20	0	1	0
chr2	85344162	85344162	C	T	exonic	RETSAT	.	nonsynonymous SNV	RETSAT:NM_017750:exon9:c.G1370A:p.R457Q,	.	.	424	1087	11	0	0	11	0.00503432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.769	P	0.105	B	0.000	D	1.000	D	1.925	M	1.95	T	-1.121	T	0.032	T	0.346	2.247	13.47	4.09	2.491	2.572	6.970	0.098	0.0155128042393	0.0016	0.00199681	0.0038	0.0003	0.0011	0	0.0024	0.0045	0.0044	0.0077	0.0036998	572	154602	rs41289947	0.0041	0.0041	0.0040	0.0043	0.0087	0.0041	0.0040	0.0082	0.0080	0.0004	0.0012	0.0035	0.0001	0.0019	0.0057	0.0043	0.0046	0.0087	0.0028	0.0028	0.0028	0.0028	0.0095	0.0026	0.0025	0.0074	0.0066	0.0005	0	0.0014	0.0035	0.0002	0.0016	0.0034	0.0044	0.0043	0.0095	0.064	0.36509	T	0.188	0.28669	T	0.223	0.30377	B	0.048	0.24975	B	0.000031	0.55875	D	0.131649	0.949612	0.81001	D	1.615	0.41426	L	1.95	0.22474	T	-0.82	0.22508	N	0.298	0.33687	-1.1213	0.02251	T	0.032	0.13723	T	10	0.009657979	0.00217	T	0.015513	0.36282	T	0.098	0.28162	.	.	0.408714661073	0.40485	0.6468904191690816	0.64624	0.082486663882	0.09310	0.23935726285	0.02733	T	0.013445	0.11628	T	-0.467557	0.00881	T	-0.439824	0.28827	T	0.0169089768246889	0.00443	T	0.775222	0.40690	T	0.09430355	0.22168	0.08301302	0.18992	0.09430355	0.22167	0.08301302	0.18992	-4.667	0.33002	T	.	.	0.079	0.07318	B	.	.	3.170586	0.42994	21.6	0.99579536912035771	0.72921	0.71471	0.35027	D	AEFDGBI	0.450311	0.50476	N	0.0263917925922794	0.43058	2.606232	0.0631943486335034	0.42713	2.588429	0.999914047780782	0.45857	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.99	4.09	0.47038	3.082000	0.49825	0.760000	0.21307	0.520000	0.23804	0.997000	0.40164	0.000000	0.08366	0.029000	0.12982	0.0:0.8086:0.0:0.1914	6.970	0.23822	888	0.27761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2548.08	37	chr2	85344162	.	C	T	2548.08	.	AC=2;AF=0.048;AN=42;DP=805;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.70;SOR=0.766	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1281	20	1	0	0
chr2	85350975	85350975	A	-	exonic	RETSAT	.	frameshift deletion	RETSAT:NM_017750:exon3:c.402delT:p.F134Lfs*62,	.	.	428	1085	9	0	0	9	0.00413034	.	.	2812059	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.00219649	0.0025	0.0002	8.64e-05	0.0047	0.0122	0.0023	0.0099	0.0015	0.001191	31	26028	rs534908680	0.0022	0.0022	0.0021	0.0022	0.0047	0.0021	0.0021	0.0041	0.0039	0.0002	0.0001	0	0.0047	0.0107	0.0016	0.0018	0.0025	0.0023	0.0019	0.0019	0.0016	0.0022	0.0081	0.0017	0.0016	0.0062	0.0055	0.0004	0	0.0001	0	0.0081	0.0100	0	0.0016	0.0014	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1680.94	34	chr2	85350974	.	TA	T	1680.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=819;ExcessHet=0.0000;FS=1.538;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=0.099;SOR=0.540	GT:AD:DP:GQ:PL	0/1:61,60:121:99:1695,0,1685	20	0	1	0
chr2	85552980	85552980	G	A	exonic	GGCX	.	nonsynonymous SNV	GGCX:NM_001142269:exon8:c.C1075T:p.R359C	Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency;Vitamin K-dependent clotting factors, combined deficiency of, 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.996	D	0.806	P	0.000	D	1.000	D	1.7	L	-3.02	D	0.650	D	0.779	D	0.518	4.116	21.2	5.54	2.601	3.412	11.991	0.654	0.139117761361	.	.	2.471e-05	0	0	0.0001	0	1.498e-05	0	6.056e-05	2.59e-05	4	154602	rs751742099	4.105e-06	5.472e-06	4.084e-06	4.126e-06	2.519e-05	1.48e-06	9.7e-07	8.4e-07	5.7e-07	0	0	0	2.519e-05	0	0	3.598e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.022	0.57587	D	0.994	0.66517	D	0.67	0.53116	P	0.000048	0.53742	D	0.157296	0.999999	0.58761	D	1.79	0.46772	L	-3.02	0.92258	D	-2.1	0.47852	N	0.65	0.66101	0.650	0.92545	D	0.779	0.92505	D	10	0.6919238	0.71908	D	0.139118	0.82160	D	0.654	0.86986	0.594	0.72371	0.937555254981	0.93690	0.7282778525437841	0.72771	0.996463915584	0.74250	0.638124108315	0.58296	T	0.59871	0.87107	D	0.0218247	0.54627	T	-0.0372985	0.67884	D	0.717164218425751	0.41556	D	0.966203	0.87589	D	0.12863405	0.30066	0.093322866	0.22036	0.12863405	0.30066	0.093322866	0.22035	-9.295	0.69576	D	0.6709187007620729	0.74585	0.267	0.50101	B	.;.	.;.	5.044625	0.83989	28.2	0.99923407672963049	0.98917	0.91960	0.54637	D	AEFBI	0.695995	0.65448	D	0.577458763713903	0.71770	5.701593	0.604040849108782	0.75234	6.27445	0.999999985965612	0.74766	0.706548	0.73137	0	0.577304	0.33150	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	3.520000	0.53221	7.551000	0.60274	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.827:0.173	11.991	0.52465	584	0.69381	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2171.98	40	chr2	85552980	.	G	A	2171.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.81;DP=927;ExcessHet=0.0000;FS=2.500;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=-9.200e-01;SOR=0.565	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr2	85754845	85754845	C	T	exonic	ATOH8	.	nonsynonymous SNV	ATOH8:NM_032827:exon1:c.C656T:p.A219V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.628	P	0.137	B	0.023	N	0.943	N	0	N	-3.44	D	-0.299	T	0.506	D	0.044	2.704	15.00	2.91	1.186	2.410	5.503	0.202	0.269168828589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.424e-06	4.788e-06	2.726e-06	4.13e-06	2.988e-05	1e-06	7.3e-07	.	.	2.988e-05	0	0	0	0	0	8.994e-07	4.97e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.48186	D	0.293	0.20811	T	0.146	0.27821	B	0.026	0.20792	B	0.023199	0.26489	N	0.362333	0.94286	0.26738	N	0.805	0.20218	L	-3.44	0.94428	D	-1.89	0.44094	N	0.079	0.05414	-0.2986	0.75023	T	0.506	0.81401	D	10	0.1365661	0.25983	T	0.269169	0.89812	D	0.202	0.48754	0.205	0.12076	0.189391138174	0.18552	0.48405535922803766	0.48325	0.58505323944	0.54161	0.56286072731	0.47672	T	0.135526	0.46739	T	-0.0367742	0.46426	T	-0.2906	0.45711	T	0.465727116118099	0.31375	T	0.69563	0.30512	T	0.11841787	0.27901	0.24083182	0.49466	0.11841787	0.27901	0.24083182	0.49465	-5.036	0.37228	T	.	.	0.110	0.21011	B	.	.	3.935949	0.57556	23.9	0.99719752957968288	0.81984	0.46395	0.27750	N	ALL	0.438561	0.49790	N	-0.319124114559646	0.28422	1.567527	-0.19253508772832	0.31810	1.803716	0.999999999423133	0.74766	0.443343	0.08805	1	0.606814	0.50340	0	0.666236	0.60216	0	0.372554	0.06265	0	.	.	3.79	2.91	0.32903	2.870000	0.48150	6.063000	0.53189	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:0.686:0.2037:0.1103	5.503	0.16127	470	0.78111	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1707.98	39	chr2	85754845	.	C	T	1707.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.506e+00;DP=920;ExcessHet=0.0000;FS=2.182;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.47;ReadPosRankSum=0.713;SOR=0.945	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	20	0	1	0
chr2	85888869	85888869	G	A	exonic	ST3GAL5	.	nonsynonymous SNV	ST3GAL5:NM_001363847:exon1:c.C37T:p.P13S	Salt and pepper developmental regression syndrome, Autosomal recessive	.	118	1380	22	2	0	26	0.00933238	.	.	190425	GM3_synthase_deficiency|not_provided|not_specified	MONDO:MONDO:0018274,MedGen:C1836824,OMIM:609056,Orphanet:171714,Orphanet:370933|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	0.22	B	0.112	B	.	.	1.000	N	0.55	N	0.75	T	-0.983	T	0.105	T	0.133	2.135	13.10	1.19	0.313	0.150	4.620	0.033	.	.	0.00359425	0.0179	0	0	0	.	0.0039	0.0323	0.0227	0.0013001	201	154602	rs559756386	0.0059	0.0054	0.0056	0.0063	0.0128	0.0058	0.0058	0.0120	0.0117	0.0005	0.0037	0.0027	4.047e-05	0.0003	0.0090	0.0061	0.0059	0.0128	0.0038	0.0038	0.0041	0.0035	0.0085	0.0035	0.0034	0.0064	0.0057	0.0010	0	0.0049	0.0032	0.0002	0	0.0068	0.0059	0.0019	0.0085	0.0	0.91255	D	0.0	0.92824	D	0.003	0.11197	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	0.75	0.50192	T	-0.86	0.23372	N	0.149	0.15187	-0.9829	0.34328	T	0.105	0.38440	T	9	0.004235208	0.00085	T	.	.	.	0.033	0.08068	.	.	0.0986583533028	0.09354	0.251730667870659	0.25087	0.309480003285	0.33256	0.76358371973	0.76464	T	0.258071	0.62919	T	-0.548623	0.00297	T	-0.549805	0.17346	T	0.0176413779189942	0.00496	T	0.681532	0.29028	T	0.13136855	0.30623	0.14717874	0.34841	0.10799594	0.25535	0.14037877	0.33462	-3.326	0.14074	T	.	.	0.111	0.25721	B	.;.;.	.;.;.	2.901153	0.38450	20.7	0.99381755231615077	0.61935	0.02234	0.06487	N	ALL	0.051170	0.09013	N	-0.9793501486076	0.09045	0.4264989	-1.02068146948412	0.09330	0.4636108	0.999999998092424	0.74766	0.56387	0.32371	0	0.484254	0.07192	0	0.503968	0.08637	0	0.492483	0.08430	1	.	.	3.05	1.19	0.20120	0.114000	0.15353	0.528000	0.19223	0.567000	0.28720	0.002000	0.15269	0.805000	0.26985	0.214000	0.22296	0.1294:0.2246:0.646:0.0	4.620	0.11829	451	0.79296	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	89.08	14	chr2	85888869	.	G	A	89.08	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.327e+00;DP=269;ExcessHet=0.0000;FS=2.059;InbreedingCoeff=-0.0313;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.94;ReadPosRankSum=-1.217e+00;SOR=0.283	GT:AD:DP:GQ:PL	0/0:5,0:5:15:0,15,109	20	0	1	0
chr2	86031379	86031379	G	A	exonic	POLR1A	.	nonsynonymous SNV	POLR1A:NM_015425:exon30:c.C4529T:p.P1510L,	Acrofacial dysostosis, Cincinnati type, Autosomal dominant	.	417	1104	1	0	0	1	0.000452694	.	.	1906819	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.34	T	0.198	B	0.039	B	0.274	N	1.000	D	1.715	L	-0.18	T	-0.858	T	0.202	T	0.136	1.668	11.54	5.11	2.534	3.858	14.976	0.124	0.0507217744073	.	.	8.735e-05	0	8.67e-05	0	0	9.223e-05	0	0.0002	8.41e-05	13	154602	rs778089945	0.0001	0.0001	8.897e-05	0.0001	0.0007	9.333e-05	8.794e-05	0.0003	0.0003	9.066e-05	2.286e-05	0.0005	0	0	0.0007	8.323e-05	6.688e-05	0.0004	7.227e-05	7.879e-05	8.991e-05	5.38e-05	0.0001	3.971e-05	3.127e-05	4.765e-05	3.339e-05	0	0	0	0.0012	0	0	0	0.0001	0	0	0.327	0.13262	T	0.307	0.19908	T	0.198	0.29589	B	0.039	0.23607	B	0.273557	0.15081	N	0.682462	0.999998	0.58761	D	1.11	0.28643	L	-0.18	0.65747	T	-1.76	0.41618	N	0.214	0.23884	-0.8583	0.51384	T	0.202	0.55891	T	10	0.06548041	0.08841	T	0.050722	0.64362	D	0.124	0.34239	0.492	0.57890	0.147330786459	0.14319	0.36605791992435405	0.36519	0.326789810459	0.34819	0.279242873192	0.07386	T	0.322327	0.69334	T	-0.37998	0.03117	T	-0.471212	0.25385	T	0.0522831752896309	0.05896	T	0.382862	0.09330	T	0.021899236	0.00818	0.035605993	0.02844	0.021899236	0.00818	0.035605993	0.02843	-6.001	0.46288	T	0.35247375624515154	0.44958	0.099	0.16626	B	.	.	3.151862	0.42666	21.6	0.96293990832261311	0.29325	0.73873	0.36133	D	AEFDGBI	0.196358	0.32335	N	-0.269766113742798	0.30321	1.689609	-0.226508760643683	0.30589	1.723672	0.999996927510317	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.11	5.11	0.69188	3.086000	0.49857	5.088000	0.47328	-0.153000	0.12021	0.166000	0.23880	0.978000	0.30204	0.010000	0.09038	0.0:0.1433:0.8567:0.0	14.976	0.70926	707	0.57054	RNA polymerase Rpb1, domain 5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1473.98	34	chr2	86031379	.	G	A	1473.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=837;ExcessHet=0.0000;FS=0.725;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.04;ReadPosRankSum=-9.000e-03;SOR=0.598	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1207	20	0	1	0
chr2	86042043	86042043	C	T	exonic	POLR1A	.	nonsynonymous SNV	POLR1A:NM_015425:exon24:c.G3418A:p.A1140T,	Acrofacial dysostosis, Cincinnati type, Autosomal dominant	.	428	1091	3	0	0	3	0.001373	.	.	1504114	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.44	T	0.036	B	0.038	B	0.029	N	1.000	N	0.275	N	-0.25	T	-1.062	T	0.116	T	0.122	2.207	13.34	3.41	1.260	0.384	2.977	0.026	0.0121659232164	.	.	0.0002	0	0.0002	0	0	0.0003	0	0.0004	0.0002199	34	154602	rs200880797	0.0004	0.0004	0.0003	0.0004	0.0007	0.0003	0.0003	0.0005	0.0004	5.977e-05	0.0002	0.0005	0	0	0.0007	0.0004	0.0004	0.0006	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	9.234e-05	0.0001	9.898e-05	7.22e-05	0	6.538e-05	0.0012	0	0	0	0.0002	0	0.0004	0.351	0.16958	T	0.555	0.09267	T	0.036	0.20732	B	0.026	0.20792	B	0.029484	0.25446	N	0.416663	1	0.08975	N	0.43	0.12624	N	-0.25	0.67011	T	0.0	0.08971	N	0.226	0.27316	-1.0617	0.11336	T	0.116	0.40942	T	10	0.030884564	0.01218	T	0.012166	0.30502	T	0.026	0.05648	.	.	0.259504319725	0.25562	0.3126741880935471	0.31180	0.460885641291	0.45640	0.292541980743	0.09293	T	0.122511	0.52862	T	-0.422845	0.01641	T	-0.495732	0.22791	T	0.0182422354778709	0.00544	T	0.781822	0.43907	T	0.027571253	0.01969	0.040521067	0.04399	0.027571253	0.01969	0.040521067	0.04399	-4.65	0.32794	T	0.22541828340894435	0.30455	0.073	0.05404	B	.;.	.;.	2.090129	0.26587	17.17	0.98203101470286402	0.39140	0.15331	0.18859	N	AEFBCI	0.063253	0.12212	N	-0.724241420062017	0.15341	0.7723271	-0.636047446986221	0.18569	0.9925687	0.870258998520418	0.25401	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.34	3.41	0.38145	0.391000	0.20511	2.808000	0.34891	0.599000	0.40250	0.009000	0.18154	0.995000	0.32472	0.731000	0.35132	0.2793:0.4586:0.1568:0.1053	2.977	0.05580	652	0.62785	RNA polymerase Rpb1, domain 5;RNA polymerase Rpb1, domain 5	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	884.98	34	chr2	86042043	.	C	T	884.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.096;DP=770;ExcessHet=0.0000;FS=2.065;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.01;ReadPosRankSum=1.53;SOR=1.041	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,982	20	0	1	0
chr2	86065341	86065341	T	C	exonic	POLR1A	.	nonsynonymous SNV	POLR1A:NM_015425:exon14:c.A1991G:p.K664R,	Acrofacial dysostosis, Cincinnati type, Autosomal dominant	.	433	1085	4	0	0	4	0.00183993	.	.	1394765	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.3	T	0.001	B	0.014	B	0.000	N	0.997	D	1.07	L	-1.08	T	-0.826	T	0.260	T	0.062	1.505	10.98	2.24	0.499	2.090	9.911	0.186	0.0146550821929	8.2e-05	.	0.0003	0	0.0004	0	0	0.0003	0.0078	0.0003	0.0002264	35	154602	rs201364788	0.0002	0.0002	0.0001	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0	0.0002	0	0	1.872e-05	0.0007	0.0002	0.0003	0.0002	0.0001	0.0001	0.0002	5.373e-05	0.0002	6.51e-05	5.321e-05	9.05e-05	7.014e-05	4.815e-05	0	0	0	0	0	0	0.0002	0.0009	0.0002	0.415	0.09989	T	0.789	0.04461	T	0.001	0.07471	B	0.014	0.16862	B	0.000000	0.84330	N	0.083922	0.996925	0.43508	D	1.7	0.43825	L	-1.08	0.77078	T	-1.33	0.33197	N	0.35	0.39356	-0.8261	0.53550	T	0.260	0.63121	T	10	0.12849653	0.24445	T	0.014655	0.34921	T	0.186	0.46104	.	.	0.540240987785	0.53675	0.4322910872790813	0.43146	0.478096384883	0.46899	0.388562500477	0.23467	T	0.232972	0.61330	T	-0.361953	0.04020	T	-0.453149	0.27348	T	0.0268298219889402	0.01521	T	0.816918	0.48435	T	0.08359805	0.19311	0.10372654	0.24894	0.0959494	0.22591	0.09403733	0.22241	-4.487	0.30718	T	0.27118242358597744	0.36480	0.071	0.04002	B	.;.	.;.	2.490419	0.32130	18.95	0.89327593412274375	0.18702	0.94028	0.59896	D	AEFBI	0.168364	0.29512	N	-0.35175148961854	0.27207	1.490926	-0.201369923045501	0.31486	1.782438	0.999945102222526	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.97	2.24	0.27264	2.073000	0.41144	2.384000	0.32503	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.0:0.1988:0.0:0.8012	9.911	0.40573	603	0.67726	RNA polymerase Rpb1, domain 3;RNA polymerase Rpb1, domain 3	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2344.98	35	chr2	86065341	.	T	C	2344.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.260e-01;DP=914;ExcessHet=0.0000;FS=10.185;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.38;ReadPosRankSum=-1.807e+00;SOR=0.907	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1312	20	0	1	0
chr2	86075130	86075130	C	T	exonic	POLR1A	.	nonsynonymous SNV	POLR1A:NM_015425:exon12:c.G1511A:p.R504H,	Acrofacial dysostosis, Cincinnati type, Autosomal dominant	.	429	1084	9	0	0	9	0.00413413	.	.	697690	Acrofacial_dysostosis_Cincinnati_type|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0014651,MedGen:C4225317,OMIM:616462,Orphanet:1200|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.16	T	0.999	D	0.952	D	0.000	D	0.999	D	1.89	L	-1.13	T	-0.101	T	0.459	T	0.558	3.465	17.74	5.01	2.606	2.848	12.860	0.514	0.0398403984058	0.0030	0.00139776	0.0031	0.0009	0.0030	0	0.0002	0.0047	0.0026	0.0009	0.0029948	463	154602	rs142266408	0.0038	0.0038	0.0037	0.0038	0.0045	0.0037	0.0037	0.0044	0.0044	0.0008	0.0026	0.0006	2.519e-05	0.0004	0.0016	0.0045	0.0035	0.0009	0.0027	0.0027	0.0030	0.0024	0.0047	0.0025	0.0024	0.0043	0.0041	0.0008	0	0.0022	0.0003	0	9.418e-05	0.0034	0.0047	0.0071	0.0010	0.083	0.42783	T	0.132	0.34477	T	0.999	0.77913	D	0.952	0.69102	D	0.000040	0.55875	D	0.154071	0.99948	0.47237	D	1.845	0.48678	L	-1.13	0.77719	T	-2.14	0.48523	N	0.308	0.36884	-0.1013	0.80068	T	0.459	0.78970	T	10	0.010700852	0.00237	T	0.03984	0.59037	D	0.514	0.79217	.	.	0.769042027199	0.76693	0.6680208597019953	0.66740	0.792136211062	0.65854	0.447788029909	0.31642	T	0.610981	0.87671	D	-0.26521	0.12295	T	-0.153192	0.58960	T	0.0177484476136179	0.00505	T	0.927207	0.73169	D	0.30399966	0.53261	0.20216939	0.44232	0.32210124	0.54816	0.20419073	0.44530	-9.481	0.70741	D	0.815112836619076	0.88926	0.110	0.21087	B	.;.	.;.	5.365908	0.89973	31	0.99851250447332862	0.93013	0.89870	0.50621	D	AEFDBI	0.219597	0.34446	N	0.609040865276295	0.73744	6.016698	0.588718253190354	0.74128	6.084879	0.999999462416441	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	2.888000	0.48292	7.654000	0.63860	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.9196:0.0:0.0804	12.860	0.57293	573	0.70213	RNA polymerase, alpha subunit|RNA polymerase, N-terminal;RNA polymerase, alpha subunit|RNA polymerase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2808.98	37	chr2	86075130	.	C	T	2808.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.740e-01;DP=1034;ExcessHet=0.0000;FS=0.516;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.77;ReadPosRankSum=2.30;SOR=0.687	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr2	86089889	86089889	C	G	exonic	POLR1A	.	nonsynonymous SNV	POLR1A:NM_015425:exon4:c.G473C:p.R158P,	Acrofacial dysostosis, Cincinnati type, Autosomal dominant	.	427	1085	10	0	0	10	0.00458716	.	.	708404	Acrofacial_dysostosis_Cincinnati_type|not_provided	MONDO:MONDO:0014651,MedGen:C4225317,OMIM:616462,Orphanet:1200|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.27	T	0.802	P	0.579	P	0.048	N	0.932	N	0.695	N	1.95	T	-1.100	T	0.022	T	0.271	0.011	4.071	4.04	0.911	1.894	7.185	0.057	.	0.0068	0.00479233	0.0069	0.0020	0.0048	0	0.0153	0.0097	0.0078	0.0002	0.006921	1070	154602	rs146078741	0.0085	0.0086	0.0088	0.0082	0.0093	0.0084	0.0083	0.0091	0.0091	0.0010	0.0050	0.0231	0	0.0133	0.0047	0.0093	0.0078	0.0005	0.0064	0.0064	0.0062	0.0067	0.0086	0.0061	0.0060	0.0074	0.0071	0.0014	0.0011	0.0086	0.0228	0	0.0145	0.0068	0.0079	0.0080	0	0.101	0.30375	T	0.197	0.28300	T	0.293	0.45105	B	0.204	0.50152	B	0.048199	0.23275	N	0.483471	0.93191	0.27034	N	1.385	0.34509	L	1.95	0.22474	T	-1.28	0.38151	N	0.156	0.20660	-1.0996	0.04140	T	0.022	0.09421	T	10	0.0037902892	0.00071	T	.	.	.	0.057	0.16321	.	.	0.213499824651	0.20940	0.6783633610280771	0.67775	0.767873632347	0.64612	0.299656271935	0.10349	T	0.079265	0.36088	T	-0.51295	0.00483	T	-0.499206	0.22430	T	0.0313899697336098	0.02208	T	0.728327	0.34315	T	0.36069137	0.57888	0.36009464	0.61457	0.34345084	0.56553	0.36009464	0.61457	-6.672	0.51599	T	0.19178476808509126	0.25176	0.627	0.69987	P	.;.	.;.	3.109079	0.41930	21.4	0.53268357583805126	0.04906	0.69650	0.34272	D	AEFDBI	0.259675	0.37797	N	-0.3325533640644	0.27918	1.535633	-0.268997360889988	0.29125	1.629313	0.934496498806157	0.27173	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.2	4.04	0.46262	2.179000	0.42157	6.182000	0.54646	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.223000	0.22544	0.0:0.1768:0.0:0.8232	7.185	0.24973	574	0.70151	RNA polymerase Rpb1, domain 1;RNA polymerase Rpb1, domain 1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1516.08	40	chr2	86089889	.	C	G	1516.08	.	AC=2;AF=0.048;AN=42;DP=739;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.32;SOR=0.773	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1024	20	1	0	0
chr2	86130651	86130651	A	G	exonic	PTCD3	.	nonsynonymous SNV	PTCD3:NM_017952:exon15:c.A1151G:p.D384G,	.	.	404	1116	2	0	0	2	0.000895255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.007	B	0.009	B	0.521	N	1.000	N	-0.49	N	1.41	T	-1.016	T	0.007	T	0.055	0.766	8.050	-11.7	-2.274	-1.627	12.074	0.055	.	0.0080	0.00579073	0.0023	0.0236	0.0014	0	0	0.0002	0.0011	0	0.0020828	322	154602	rs34866009	0.0007	0.0007	0.0008	0.0006	0.0238	0.0007	0.0007	0.0224	0.0219	0.0238	0.0014	0	0	1.877e-05	0.0045	6.941e-05	0.0016	0.0001	0.0066	0.0066	0.0068	0.0064	0.0228	0.0063	0.0061	0.0216	0.0211	0.0228	0	0.0026	0	0	0	0.0034	0.0001	0.0043	0	0.419	0.09866	T	0.401	0.14961	T	0.007	0.14184	B	0.009	0.14300	B	0.521296	0.05204	N	1.206490	1	0.08975	N	-0.505	0.02602	N	1.41	0.33412	T	0.71	0.02130	N	0.091	0.06990	-1.0158	0.25078	T	0.007	0.02282	T	10	0.002462715	0.00037	T	.	.	.	0.055	0.15663	.	.	0.0482279557977	0.04254	0.44770504746696554	0.44688	0.0642460571444	0.07162	0.308227568865	0.11639	T	0.008139	0.07488	T	-0.69168	0.00041	T	-0.748741	0.03535	T	0.00987740606062613	0.00131	T	0.352565	0.07917	T	0.07053912	0.15545	0.050811026	0.08049	0.07053912	0.15544	0.050811026	0.08049	-3.357	0.14484	T	.	.	0.099	0.16626	B	.	.	-0.576899	0.01636	0.114	0.3264325491749509	0.01902	0.00403	0.02011	N	AEFDBI	0.024814	0.01598	N	-1.80800010930352	0.00526	0.02263713	-1.8901026460749	0.00512	0.02269621	0.999999999996221	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.84	-11.7	0.00035	-1.019000	0.03733	-2.002000	0.04363	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.1175:0.0855:0.6811:0.1159	12.074	0.52930	563	0.71062	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	964.98	33	chr2	86130651	.	A	G	964.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=752;ExcessHet=0.0000;FS=4.460;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=0.811;SOR=1.003	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1072	20	0	1	0
chr2	86147719	86147719	T	C	exonic	IMMT	.	nonsynonymous SNV	IMMT:NM_001100169:exon13:c.A1513G:p.K505E	.	.	420	1091	11	0	0	11	0.00501596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.608	P	0.444	B	0.000	D	0.996	D	0.88	L	1.51	T	-1.096	T	0.078	T	0.528	3.669	18.65	6.17	2.371	3.004	16.822	0.136	0.0145278051404	0.0007	0.000199681	0.0005	0.0002	0.0006	0	0	0.0008	0	6.071e-05	0.0005239	81	154602	rs200238227	0.0008	0.0008	0.0008	0.0008	0.0014	0.0007	0.0007	0.0008	0.0008	0.0001	0.0011	0.0018	0	9.365e-05	0.0014	0.0009	0.0009	0.0001	0.0007	0.0007	0.0006	0.0007	0.0014	0.0006	0.0005	0.0009	0.0008	0.0001	0	0.0014	0.0023	0	0	0.0034	0.0009	0.0005	0.0002	0.096	0.54683	T	0.105	0.47336	T	0.365	0.39540	B	0.143	0.45865	B	0.000001	0.84330	D	0.088969	0.990173	0.43220	D	.	.	.	1.51	0.30937	T	-1.68	0.40082	N	0.594	0.63713	-1.0963	0.04569	T	0.078	0.31224	T	10	0.042367876	0.02979	T	0.014528	0.34707	T	0.160	0.41473	.	.	0.573883478307	0.57056	0.21215041506035584	0.21131	0.207573174993	0.23217	0.628088474274	0.56873	T	0.01552	0.36425	T	-0.370869	0.03550	T	-0.355945	0.38521	T	0.0227938684810202	0.00999	T	0.978102	0.92255	D	0.37939596	0.59273	0.39636588	0.64280	0.37939596	0.59273	0.39636588	0.64280	-6.264	0.49440	T	.	.	0.216	0.46389	B	.;.;.;.;.	.;.;.;.;.	3.662963	0.52048	23.2	0.99812795028604839	0.89620	0.94492	0.61340	D	AEFDBI	0.221526	0.34614	N	0.0837886367137085	0.45708	2.822786	0.254211860414367	0.52890	3.460809	0.994214960863354	0.33538	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.17	6.17	0.99707	3.002000	0.49184	7.829000	0.70041	0.665000	0.62972	0.995000	0.38783	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.822	0.85699	567	0.70732	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	371.98	35	chr2	86147719	.	T	C	371.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.743;DP=752;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.91;ReadPosRankSum=2.12;SOR=0.836	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1415	20	0	1	0
chr2	86173752	86173752	C	T	exonic	IMMT	.	nonsynonymous SNV	IMMT:NM_001100169:exon4:c.G319A:p.G107S	.	.	0	225	1	0	0	1	0.00221729	.	.	2379977	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.828	P	0.764	P	0.128	N	1.000	D	1.78	L	1.66	T	-1.034	T	0.126	T	0.211	2.656	14.84	3.87	0.986	3.261	11.199	0.064	0.0128947372264	.	.	0.0001	0.0004	0	0	0	0.0002	0	0	9.7e-05	15	154602	rs376275324	0.0001	0.0001	0.0001	0.0001	0.0035	9.07e-05	8.536e-05	0.0023	0.0020	0.0013	2.36e-05	0	0	1.879e-05	0.0035	5.728e-05	0.0002	8.503e-05	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0	6.549e-05	0	0	0	0	8.822e-05	0	0	0.036	0.47320	D	0.355	0.57587	T	0.001	0.09854	B	0.015	0.20792	B	0.127633	0.18760	N	0.597928	0.999734	0.48635	D	.	.	.	1.66	0.27486	T	-1.84	0.51968	N	0.192	0.21056	-1.0338	0.19236	T	0.126	0.43132	T	10	0.10370505	0.19079	T	0.012895	0.31852	T	0.064	0.18567	0.662	0.79996	0.353761421236	0.34979	0.378659573225176	0.37780	0.130582061597	0.14734	0.496716797352	0.38370	T	0.015774	0.43596	T	-0.389811	0.02698	T	-0.465649	0.25987	T	0.0397609787129315	0.03647	T	0.865613	0.56597	D	0.13005933	0.30358	0.13709246	0.32779	0.13005933	0.30358	0.13709246	0.32778	-2.644	0.06845	T	.	.	0.096	0.15296	B	.;.;.;.;.;.	.;.;.;.;.;.	2.785855	0.36605	20.3	0.99309097233150356	0.58943	0.94736	0.62153	D	AEFBI	0.370671	0.45696	N	-0.0892025807869594	0.37865	2.20921	0.0120880485610974	0.40275	2.40101	0.994160672413291	0.33516	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.75	3.87	0.43823	3.325000	0.51742	4.863000	0.45489	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:0.9135:0.0:0.0865	11.199	0.47958	523	0.74147	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	688.98	42	chr2	86173752	.	C	T	688.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=854;ExcessHet=0.0000;FS=5.254;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.28;ReadPosRankSum=1.58;SOR=1.432	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	20	0	1	0
chr2	86477880	86477880	A	G	exonic	KDM3A	.	nonsynonymous SNV	KDM3A:NM_001146688:exon13:c.A1943G:p.Q648R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.945	P	0.748	P	0.000	D	1.000	D	1.845	L	0.26	T	-0.583	T	0.270	T	0.329	4.483	24.0	4.84	2.163	7.359	13.692	0.175	0.0306541584191	.	.	1.719e-05	0	0	0	0	3.057e-05	0	0	1.29e-05	2	154602	rs746666125	9.657e-06	9.577e-06	1.096e-05	8.339e-06	1.267e-05	5.6e-06	4.38e-06	7.35e-06	5.75e-06	0	0	0	0	0	0	1.267e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.102	0.38450	T	0.945	0.53279	P	0.459	0.46380	P	0.000001	0.62929	D	0.000000	1	0.81001	D	1.7	0.43825	L	0.26	0.59314	T	-0.16	0.09460	N	0.341	0.43803	-0.5834	0.65482	T	0.270	0.64141	T	10	0.23205072	0.40192	T	0.030654	0.52920	D	0.175	0.44197	0.234	0.16305	0.303174742685	0.29934	0.5914553402735858	0.59075	0.557958373062	0.52393	0.530072748661	0.43045	T	0.076842	0.35514	T	-0.0378323	0.46271	T	-0.276634	0.47148	T	0.712538715707096	0.41325	D	0.865913	0.56597	D	0.18451363	0.39769	0.196261	0.43348	0.18451363	0.39769	0.196261	0.43347	-5.434	0.41245	T	.	.	0.257	0.49186	B	.;.;.;.	.;.;.;.	4.074550	0.60568	24.2	0.99816111719336098	0.89973	0.96870	0.71387	D	AEFBCI	0.867057	0.78670	D	0.56260559397665	0.70852	5.562956	0.577457118838307	0.73326	5.952366	0.999999999980968	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.84	4.84	0.62125	7.347000	0.78598	11.206000	0.89223	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	13.692	0.62033	481	0.77356	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	4603.08	33	chr2	86477880	.	A	G	4603.08	.	AC=2;AF=0.048;AN=42;DP=885;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.48;SOR=1.041	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1392	20	1	0	0
chr2	86481983	86481983	C	T	exonic	KDM3A	.	nonsynonymous SNV	KDM3A:NM_001146688:exon17:c.C2566T:p.L856F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.394	B	0.126	B	0.000	D	0.707	D	0.665	N	0.1	T	-0.900	T	0.104	T	0.232	1.772	11.88	3.97	1.429	0.663	8.905	0.021	0.0206136342194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.978e-05	7.046e-05	7.351e-05	6.601e-05	0.0002	5.847e-05	5.457e-05	7.51e-05	7.001e-05	0	0	0	0	0	0.0002	8.993e-05	1.656e-05	0	1.314e-05	1.313e-05	0	2.69e-05	6.542e-05	2.18e-06	8.2e-07	.	.	0	0	6.542e-05	0	0	0	0	1.47e-05	0	0	0.215	0.19293	T	0.337	0.18178	T	0.394	0.34702	B	0.126	0.32692	B	0.000377	0.45194	D	0.090541	0.707	0.33481	D	0.345	0.11182	N	0.09	0.61443	T	0.26	0.04380	N	0.221	0.37613	-0.8997	0.48024	T	0.104	0.38169	T	10	0.09075686	0.15839	T	0.020614	0.43239	T	0.021	0.04004	0.227	0.15257	0.168254554758	0.16434	0.3664511931265572	0.36559	0.569852865305	0.53153	0.438354194164	0.30352	T	0.025032	0.18800	T	-0.149147	0.28447	T	-0.452016	0.27475	T	0.714319705963135	0.41413	D	0.684632	0.29288	T	0.028669143	0.02240	0.047450952	0.06837	0.028669143	0.02239	0.047450952	0.06836	-7.006	0.54077	T	.	.	0.073	0.06990	B	.;.;.;.	.;.;.;.	1.866016	0.23701	16.12	0.99500272464813078	0.67973	0.40419	0.26432	N	AEFBI	0.071707	0.14286	N	-0.397437539812333	0.25560	1.388411	-0.288358713267197	0.28480	1.588348	0.999958574878767	0.48110	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.8	3.97	0.45241	0.491000	0.22128	2.269000	0.31817	0.599000	0.40250	0.046000	0.21249	0.982000	0.30508	0.714000	0.34579	0.0:0.7676:0.0:0.2324	8.905	0.34678	483	0.77230	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3255.98	35	chr2	86481983	.	C	T	3255.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=948;ExcessHet=0.0000;FS=1.538;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=0.503;SOR=0.582	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1277	20	0	1	0
chr2	86604628	86604628	G	C	exonic	RNF103	.	nonsynonymous SNV	RNF103:NM_005667:exon4:c.C1273G:p.L425V	.	.	433	1081	8	0	0	8	0.00368664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.978	D	0.000	D	1.000	D	1.935	M	0.36	T	-0.673	T	0.167	T	0.33	2.369	13.88	3.78	0.723	4.540	11.331	0.133	.	0.0031	0.00279553	0.0028	0.0012	0.0029	0	0.0015	0.0042	0.0022	0.0003	0.0029172	451	154602	rs140169526	0.0039	0.0039	0.0039	0.0039	0.0049	0.0038	0.0038	0.0042	0.0042	0.0006	0.0036	0.0134	0	0.0012	0.0049	0.0043	0.0044	0.0006	0.0035	0.0035	0.0041	0.0029	0.0077	0.0033	0.0032	0.0065	0.0061	0.0014	0	0.0077	0.0153	0	0.0007	0	0.0040	0.0104	0.0006	0.008	0.58626	D	0.031	0.53788	D	0.997	0.70673	D	0.978	0.74104	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.805	0.20218	L	0.36	0.57880	T	-0.73	0.20576	N	0.604	0.62188	-0.6730	0.61693	T	0.167	0.50567	T	10	0.009611815	0.00216	T	.	.	.	0.133	0.36157	.	.	0.300371490279	0.29641	0.6879820843248363	0.68738	0.519394606858	0.49764	0.70407474041	0.67733	T	0.176542	0.52653	T	-0.375493	0.03325	T	-0.310641	0.43590	T	0.0227191877698262	0.00991	T	0.928407	0.73561	D	0.20435804	0.42543	0.22400042	0.47298	0.20435804	0.42543	0.22400042	0.47297	-4.135	0.25804	T	.	.	0.165	0.36335	B	.	.	3.939759	0.57647	23.9	0.99196696040998744	0.55142	0.96751	0.70744	D	AEFBI	0.644382	0.62065	D	0.507645613995465	0.67541	5.095363	0.465866344714574	0.65742	4.862403	0.219388842732712	0.18337	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.59	3.78	0.42629	4.647000	0.61115	8.742000	0.78205	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0686:0.1272:0.8043:0.0	11.331	0.48714	603	0.67726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1748.98	34	chr2	86604628	.	G	C	1748.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.303;DP=838;ExcessHet=0.0000;FS=1.297;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=-4.510e-01;SOR=0.856	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr2	86858278	86858278	G	A	exonic	CD8B	.	nonsynonymous SNV	CD8B:NM_001178100:exon2:c.C182T:p.P61L	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.903	P	0.134	B	0.542	N	1.000	N	1.765	L	.	.	-1.067	T	0.033	T	0.185	2.084	12.93	2.68	0.357	-0.150	6.916	0.028	.	0.0065	0.0071885	0.0016	0.0165	0.0010	0	0	0.0001	0	0.0002	0.00163	252	154602	rs140127269	0.0006	0.0006	0.0007	0.0005	0.0175	0.0006	0.0005	0.0164	0.0159	0.0175	0.0012	0	0	0	0.0009	0.0001	0.0012	0.0003	0.0050	0.0050	0.0051	0.0048	0.0171	0.0047	0.0046	0.0161	0.0156	0.0171	0	0.0020	0	0	0	0	0.0001	0.0033	0.0002	0.064	0.41915	T	0.061	0.45530	T	0.903	0.49795	P	0.082	0.29098	B	0.541632	0.11530	N	0.777713	0.999999	0.08975	N	.	.	.	.	.	.	-4.3	0.77391	D	0.184	0.25130	-1.0670	0.10085	T	0.033	0.14290	T	9	0.0069544315	0.00158	T	.	.	.	0.028	0.06331	.	.	0.458283960492	0.45451	0.3651208148001604	0.36426	0.615612516959	0.56040	0.28358489275	0.07997	T	0.32628	0.69692	T	-0.515344	0.00468	T	-0.497437	0.22614	T	0.0260605573597369	0.01415	T	0.827017	0.49049	T	0.075144716	0.16910	0.12580264	0.30307	0.075144716	0.16910	0.12580264	0.30306	-5.815	0.46339	T	.	.	0.115	0.24192	B	.;.;.;.;.;.	.;.;.;.;.;.	0.994086	0.13720	10.26	0.92608092676691922	0.22072	0.02263	0.06543	N	AEFDGI	0.051308	0.09051	N	-0.47766944123405	0.22814	1.220834	-0.581549176805911	0.19974	1.074099	7.06481721513648E-4	0.07666	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.49	2.68	0.30839	-0.086000	0.11198	0.402000	0.18011	0.672000	0.70159	0.000000	0.06391	0.014000	0.20376	0.309000	0.24713	0.2171:0.0:0.7829:0.0	6.916	0.23538	537	0.73184	.;.;.;.;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2245.98	39	chr2	86858278	.	G	A	2245.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.961;DP=885;ExcessHet=0.0000;FS=1.269;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.42;MQRankSum=-1.648e+00;QD=13.69;ReadPosRankSum=-1.291e+00;SOR=0.583	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr2	86913895	86913895	C	A	exonic	RGPD2	.	nonsynonymous SNV	RGPD2:NM_001078170:exon1:c.C46A:p.Q16K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	.	.	.	.	.	.	0.994	N	.	.	1.11	T	-1.005	T	0.093	T	0.093	0.531	6.876	.	0.470	1.596	.	0.028	0.00336679468195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.03e-07	6.844e-07	0	1.416e-06	0.0003	0	0	.	.	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.41915	D	0.012	0.63918	D	.	.	.	.	.	.	.	.	.	.	1	0.23644	N	.	.	.	1.11	0.38883	T	-1.83	0.42957	N	0.296	0.33469	-1.0050	0.28457	T	0.093	0.35471	T	4	0.16553867	0.30939	T	0.003367	0.07542	T	0.028	0.06331	0.222	0.14518	0.0138822411134	0.00435	.	.	.	.	.	.	.	.	.	.	-0.273378	0.11383	T	-0.630465	0.10379	T	0.0899736848464801	0.11215	T	0.891611	0.62654	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.16929	B	.	.	1.558338	0.19961	14.52	0.89597594922075829	0.18934	0.08130	0.14097	N	AEFBI	0.059230	0.11172	N	-0.504603209109311	0.21930	1.16747	-0.679370375984615	0.17477	0.9294917	1.23692757892015E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	1.763000	0.38090	2.759000	0.34591	.	.	1.000000	0.71638	1.000000	0.68203	.	.	.	.	.	619	0.66147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	415.98	40	chr2	86913895	.	C	A	415.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.847;DP=685;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=44.43;MQRankSum=-3.605e+00;QD=10.40;ReadPosRankSum=0.054;SOR=0.787	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1060	20	0	1	0
chr2	87783062	87783064	TCT	-	exonic	RGPD1;RGPD2	.	nonframeshift deletion	RGPD1:NM_001024457:exon20:c.3936_3938del:p.E1313del	.	.	145	1369	7	1	0	9	0.0032763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00299521	0.0029	0	0	0	0	0.0007	0	0.0471	0.00152	235	154602	rs547445906	0.0011	0.0011	0.0007	0.0016	0.0151	0.0011	0.0011	0.0144	0.0141	6.004e-05	0	0.0002	0	0	0.0032	0.0002	0.0009	0.0151	0.0004	0.0005	0.0005	0.0003	0.0081	0.0003	0.0003	0.0058	0.0050	0	0	0.0002	0.0003	0	0	0	0.0003	0.0006	0.0081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	9320.05	40	chr2	87783061	.	CTCT	C	9320.05	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.481e+00;DP=943;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=34.51;MQRankSum=1.63;QD=35.55;ReadPosRankSum=-1.519e+00;SOR=0.752	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	1	0	0
chr2	87985747	87985747	G	A	exonic	RGPD1	.	nonsynonymous SNV	RGPD1:NM_001024457:exon1:c.C28T:p.R10C,	.	.	577	943	2	0	0	2	0.00105932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	D	.	.	0.68	T	-0.929	T	0.143	T	0.301	-0.455	1.891	.	0.088	0.880	2.851	0.048	0.000787956150125	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs776102347	0.0001	0.0001	9.874e-05	0.0001	0.0013	9.261e-05	8.723e-05	0.0010	0.0009	0.0005	0.0003	3.837e-05	0.0013	0	0.0005	3.982e-05	0.0002	0.0002	0.0003	0.0003	0.0002	0.0004	0.0007	0.0002	0.0002	0.0005	0.0004	0.0007	0	0.0006	0	0.0006	0	0.0034	5.884e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1551.98	33	chr2	87985747	.	G	A	1551.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.460e-01;DP=853;ExcessHet=0.0000;FS=4.828;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=44.94;MQRankSum=-3.747e+00;QD=9.95;ReadPosRankSum=-1.212e+00;SOR=0.404	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1328	20	0	1	0
chr2	88028314	88028314	G	A	exonic	KRCC1	.	nonsynonymous SNV	KRCC1:NM_001304526:exon4:c.C250T:p.R84W	.	.	429	1083	10	0	0	10	0.00459559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.03	B	0.007	B	0.601	N	1.000	N	1.525	L	1.39	T	-0.966	T	0.089	T	0.127	1.091	9.454	1.41	0.355	0.455	9.492	0.049	0.00708983012314	0.0002	0.000599042	0.0013	0	0.0004	0.0001	0	0.0005	0.0011	0.0073	0.0011449	177	154602	rs148657110	0.0008	0.0008	0.0005	0.0010	0.0075	0.0007	0.0007	0.0070	0.0068	0.0002	0.0002	0.0019	0.0001	1.872e-05	0.0038	0.0003	0.0010	0.0075	0.0006	0.0006	0.0005	0.0007	0.0064	0.0005	0.0004	0.0046	0.0040	0.0001	0.0077	0.0004	0.0012	0.0004	9.425e-05	0	0.0004	0.0005	0.0064	0.005	0.63226	D	0.008	0.67890	D	0.03	0.20002	B	0.007	0.12992	B	0.601190	0.05647	N	1.259100	1	0.08975	N	1.935	0.51832	L	1.39	0.33842	T	-3.17	0.64363	D	0.103	0.08646	-0.9657	0.38073	T	0.089	0.34353	T	10	0.0041328967	0.00081	T	0.00709	0.18786	T	0.049	0.13647	.	.	0.257786959452	0.25393	0.05990734627676535	0.05930	0.173662969819	0.19551	0.192794680595	0.00278	T	0.12193	0.44523	T	-0.57121	0.00218	T	-0.588855	0.13766	T	0.0356304762796449	0.02917	T	0.186981	0.01949	T	0.07956599	0.18183	0.10883202	0.26221	0.07956599	0.18183	0.10883202	0.26221	-5.684	0.43551	T	.	.	0.097	0.15654	B	.	.	2.663030	0.34696	19.70	0.98595329465342152	0.43427	0.34039	0.24973	N	AEFGBI	0.186310	0.31362	N	-0.923780949585967	0.10288	0.4908913	-0.911895572910837	0.11813	0.6041108	0.999920659921244	0.46280	0.706298	0.61202	0	0.662677	0.63036	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.8	1.41	0.21461	0.296000	0.18839	.	.	-0.776000	0.03386	0.261000	0.24959	0.873000	0.27615	0.117000	0.19042	0.0725:0.0:0.5619:0.3657	9.492	0.38129	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2447.98	37	chr2	88028314	.	G	A	2447.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.47;DP=1007;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=0.502;SOR=0.678	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr2	88175306	88175306	T	A	exonic	THNSL2	.	startloss	THNSL2:NM_001244678:exon2:c.T2A:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.371	B	0.188	B	0.163	N	0.949	N	0.895	L	-4.1	D	0.421	D	0.794	D	0.62	2.610	14.69	5.63	2.148	7.007	15.022	0.626	0.121767540814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.83351	D	0.371	0.34093	B	0.088	0.36237	B	0.163205	0.17598	N	0.611355	0.948642	0.26562	N	1.75	0.45442	L	2.4	0.96659	T	-4.56	0.78636	D	0.646	0.71055	0.421	0.89419	D	0.794	0.93025	D	10	0.91986036	0.91341	D	0.121768	0.80260	D	0.626	0.85563	0.81	0.92650	0.880059284943	0.87888	0.865175554662152	0.86482	0.189735641114	0.21295	0.335973978043	0.15835	T	0.674026	0.90356	D	0.264457	0.79939	D	0.142097	0.79681	D	0.962074458599091	0.66262	D	0.9	0.65058	D	0.91978294	0.93227	0.8802182	0.93577	0.91978294	0.93228	0.8802182	0.93577	-14.059	0.93246	D	.	.	0.743	0.74773	P	.;.;.;.	.;.;.;.	3.878359	0.56357	23.7	0.96594604218718427	0.30383	0.97216	0.73376	D	AEFDBI	0.840456	0.75774	D	0.0636729413697054	0.44772	2.745344	0.206091314201626	0.50185	3.213247	0.999999338528988	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.63	5.63	0.86108	6.994000	0.76013	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:0.0:1.0	15.022	0.71301	952	0.10565	.;.;.;Pyridoxal-phosphate dependent enzyme	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1396.98	34	chr2	88175306	.	T	A	1396.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.07;DP=849;ExcessHet=0.0000;FS=6.182;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.31;ReadPosRankSum=-7.480e-01;SOR=0.553	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1368	20	0	1	0
chr2	88185439	88185439	G	A	exonic	THNSL2	.	nonsynonymous SNV	THNSL2:NM_018271:exon8:c.G1189A:p.V397M,	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.985	D	0.001	D	1.000	D	2.36	M	-4.25	D	0.918	D	0.926	D	0.445	5.037	29.8	5.8	2.741	6.508	19.051	0.753	.	0.0002	0.00299521	0.0015	0	0.0001	0.0182	0.0005	0.0002	0	0.0003	0.0011319	175	154602	rs144146961	0.0004	0.0004	0.0004	0.0004	0.0109	0.0003	0.0003	0.0100	0.0097	0	8.968e-05	0	0.0109	0.0002	0.0002	4.588e-05	0.0006	0.0002	0.0005	0.0005	0.0004	0.0006	0.0130	0.0004	0.0003	0.0105	0.0096	0	0	0	0	0.0130	0	0	2.94e-05	0	0.0002	0.004	0.65419	D	0.006	0.70582	D	1.0	0.90584	D	0.985	0.76457	D	0.000698	0.42383	D	0.194962	0.993499	0.81001	D	2.33	0.66821	M	-4.25	0.97054	D	-2.33	0.51646	N	0.548	0.57433	0.918	0.95928	D	0.926	0.97547	D	10	0.009332508	0.00211	T	.	.	.	0.753	0.91541	.	.	0.703637343589	0.70106	0.6513602490772512	0.65072	0.458079838769	0.45429	0.375926941633	0.21678	T	0.664787	0.89983	D	-0.123861	0.32493	T	0.0616303	0.74353	D	0.081638284067154	0.10196	T	0.937806	0.76632	D	0.23624004	0.46471	0.30033103	0.56067	0.23624004	0.46471	0.30033103	0.56066	-9.29	0.69544	D	.	.	0.334	0.55480	B	.	.	4.846013	0.79160	27.0	0.99913686364907106	0.98238	0.98501	0.83448	D	AEFBI	0.724562	0.67383	D	0.845816301261772	0.88870	9.743376	0.824387930033011	0.91435	10.88533	0.999999994842712	0.74766	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.8	5.8	0.92081	6.690000	0.74396	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.859000	0.40722	0.0:0.0:1.0:0.0	19.051	0.93028	946	0.12043	Pyridoxal-phosphate dependent enzyme	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1154.98	44	chr2	88185439	.	G	A	1154.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.23;DP=853;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=-1.337e+00;SOR=0.778	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1090	20	0	1	0
chr2	88452181	88452181	-	GGCGGGCGC	exonic	FOXI3	.	nonframeshift insertion	FOXI3:NM_001135649:exon1:c.354_355insGCGCCCGCC:p.A118_S119insAPA,	.	.	88	1425	7	2	0	11	0.00384481	.	.	1041711	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0.0023	0	0	0	0.0001164	18	154602	rs757327073	0.0061	0.0048	0.0064	0.0058	0.0073	0.0060	0.0059	0.0066	0.0065	0.0005	0.0004	0.0017	0.0003	0.0005	0.0024	0.0067	0.0053	0.0073	0.0044	0.0044	0.0046	0.0043	0.0088	0.0042	0.0040	0.0068	0.0066	0.0011	0	0.0024	0.0026	0.0002	0.0031	0	0.0073	0.0049	0.0088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	530.94	38	chr2	88452181	.	A	AGGCGGGCGC	530.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.787;DP=731;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.12;ReadPosRankSum=-2.900e-02;SOR=1.127	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1274	20	0	1	0
chr2	88576644	88576644	G	A	exonic	EIF2AK3	.	nonsynonymous SNV	EIF2AK3:NM_001313915:exon12:c.C1493T:p.P498L	Wolcott-Rallison syndrome, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	1419605	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.999	D	0.000	D	1.000	D	2.54	M	1.69	T	-0.754	T	0.197	T	0.725	4.575	24.8	5.48	2.565	6.488	19.341	0.455	0.081945916687	.	.	1.649e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs752306602	1.437e-05	1.436e-05	1.225e-05	1.65e-05	0.0002	9.23e-06	7.84e-06	0.0001	9.45e-05	2.987e-05	0	0	0	0	0	2.698e-06	1.656e-05	0.0002	1.314e-05	1.313e-05	0	2.689e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	0	0	0.0002	0.005	0.63226	D	0.046	0.49120	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.88	0.83451	M	1.69	0.27032	T	-4.57	0.78721	D	0.85	0.84609	-0.7537	0.57742	T	0.197	0.55215	T	10	0.81030935	0.80322	D	0.081946	0.73794	D	0.455	0.75415	0.763	0.89133	0.846449383411	0.84497	0.8522391688266304	0.85185	0.710764796044	0.61698	0.77463966608	0.78120	T	0.431	0.77947	T	-0.1053	0.35547	T	-0.129353	0.61027	T	0.838449895381927	0.49201	D	0.953905	0.82456	D	0.35898674	0.57759	0.35219693	0.60802	0.35898674	0.57759	0.35219693	0.60801	-11.657	0.83140	D	.	.	0.192	0.41141	B	.;.;.	.;.;.	5.404019	0.90485	31	0.99892754348136192	0.96666	0.97850	0.77597	D	AEFBI	0.679481	0.64349	D	0.800846810237405	0.86157	8.796839	0.76607262895648	0.87352	9.192693	0.999998745440762	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	6.597000	0.73999	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	19.341	0.94330	841	0.37094	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	749.98	33	chr2	88576644	.	G	A	749.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.18;DP=771;ExcessHet=0.0000;FS=0.883;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.62;ReadPosRankSum=-1.730e-01;SOR=0.846	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,111,1286	20	0	1	0
chr2	94871904	94871904	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_144705:exon1:c.A325G:p.M109V,	.	.	423	1067	31	1	0	33	0.0152284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.0	B	0.0	B	0.006	N	1.000	N	-1.265	N	4.4	T	-0.937	T	0.002	T	0.121	-1.615	0.013	-1.91	-0.992	1.618	4.088	0.064	0.00122875723365	.	.	0.0001	0.0005	0	0	0	0.0001	0	0	0.0007568	117	154602	rs77824556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.16358	T	0.301	0.20293	T	0.0	0.02946	B	0.0	0.01387	B	0.006010	0.32339	N	0.291643	1	0.08975	N	-1.705	0.00347	N	4.4	0.02215	T	1.17	0.01121	N	0.045	0.01740	-0.9369	0.43103	T	0.002	0.00707	T	10	0.02163878	0.00522	T	0.001229	0.01633	T	0.064	0.18567	.	.	0.107399877778	0.10242	0.11023828764567724	0.10952	0.0293419903988	0.03019	0.716191112995	0.69491	T	0.02647	0.19579	T	-0.332775	0.05903	T	-0.715784	0.05001	T	0.0280548110973322	0.01696	T	0.232777	0.03161	T	0.06496922	0.13836	0.09327323	0.22022	0.06496922	0.13836	0.09327323	0.22021	-2.804	0.08221	T	.	.	0.059	0.00793	B	.	.	0.636446	0.10050	6.799	0.4154982300263122	0.03005	0.05116	0.10920	N	AEFDGBHI	0.024169	0.01454	N	-1.39660453890581	0.02670	0.1182283	-1.38285152646484	0.03434	0.1601971	0.955553942976374	0.28196	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	1.84	-1.91	0.07225	1.406000	0.34254	2.690000	0.34081	-0.324000	0.05829	0.075000	0.22209	0.999000	0.35428	0.024000	0.12247	0.5824:0.2018:0.2158:0.0	4.088	0.09432	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	345.68	49	chr2	94871904	.	A	G	345.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.573e+00;DP=1031;ExcessHet=0.3300;FS=1.528;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=58.92;MQRankSum=-7.507e+00;QD=1.08;ReadPosRankSum=-1.448e+00;SOR=0.549	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,102,1530	18	0	3	0
chr2	94874110	94874110	T	G	splicing	TEKT4	NM_001286559:exon3:c.167+2T>G;NM_144705:exon3:c.713+2T>G	.	.	.	.	406	1070	44	2	0	48	0.0219378	1.0000	0.944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.317	13.70	2.24	0.779	4.740	8.014	.	.	.	.	0.0040	0.0040	0.0018	0.0039	0.0052	0.0040	0.0082	0.0048	0.0004995	13	26028	rs201662522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0210978	0.54528	T	-0.207471	0.53936	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.728960	0.53327	23.3	0.92961029893543212	0.22537	0.79885	0.39676	D	AEFDGBCI	.	.	.	0.522301970175972	0.68412	5.213453	0.198859362804565	0.49784	3.177611	0.997889277469928	0.36150	0.055872	0.00684	0	0.068659	0.01829	0	0.067067	0.01885	0	0.078985	0.02075	0	0.724399	0.43579	2.24	2.24	0.27264	2.478000	0.44848	6.975000	0.57104	0.334000	0.19664	1.000000	0.71638	1.000000	0.68203	0.087000	0.17632	0.0:0.0:0.0:1.0	8.014	0.29532	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	415.2	33	chr2	94874110	.	T	G	415.2	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-1.707e+00;DP=893;ExcessHet=1.7912;FS=3.157;InbreedingCoeff=-0.1724;MLEAC=6;MLEAF=0.143;MQ=58.57;MQRankSum=-7.504e+00;QD=1.07;ReadPosRankSum=2.48;SOR=0.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,4:57:9:0|1:94874110_T_G:9,0,1901:94874110	15	0	6	0
chr2	94874897	94874897	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon4:c.G289A:p.E97K	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.995	D	0.754	P	0.000	D	1.000	D	2.205	M	4.23	T	-0.969	T	0.014	T	0.646	3.231	16.83	2.19	1.235	2.507	10.056	0.178	.	0.0002	0.00359425	0.0022	0.0004	0	0.0289	0	1.882e-05	0.0015	0	0.0016365	253	154602	rs146551570	0.0004	0.0004	0.0005	0.0004	0.0129	0.0004	0.0004	0.0120	0.0116	2.992e-05	2.243e-05	0	0.0129	0	0.0004	3.419e-05	0.0014	4.665e-05	0.0008	0.0008	0.0008	0.0009	0.0205	0.0007	0.0007	0.0174	0.0162	0.0003	0	0	0	0.0205	0	0	4.41e-05	0.0014	0.0004	0.111	0.29029	T	0.057	0.46406	T	0.995	0.67487	D	0.754	0.56161	P	0.000024	0.55875	D	0.114840	0.999898	0.50595	D	2.78	0.81115	M	4.23	0.02616	T	-1.7	0.40468	N	0.499	0.53181	-0.9689	0.37427	T	0.014	0.05465	T	10	0.009892076	0.00222	T	.	.	.	0.178	0.44724	.	.	0.242244723065	0.23846	0.4057177004586829	0.40487	0.199548353779	0.22355	0.852362155914	0.89970	D	0.041576	0.25903	T	-0.0265426	0.47917	T	-0.275903	0.47222	T	0.0808243131481521	0.10092	T	0.932107	0.74696	D	0.37339312	0.58835	0.46540713	0.68976	0.37339312	0.58835	0.46540713	0.68977	-4.866	0.35351	T	.	.	0.087	0.11220	B	.	.	3.527687	0.49482	22.8	0.99799695607032235	0.88461	0.43557	0.27124	N	AEFDGBI	0.060055	0.11386	N	0.1198944824389	0.47392	2.965496	-0.0315150612501968	0.38298	2.254484	0.00560450431938268	0.10990	0.403107	0.06075	0	0.547309	0.14657	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	2.19	2.19	0.26890	1.247000	0.32417	7.175000	0.57735	0.338000	0.19717	0.933000	0.32380	1.000000	0.68203	0.190000	0.21601	0.0:0.0:1.0:0.0	10.056	0.41421	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025	648.33	34	chr2	94874897	.	G	A	648.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.10;DP=734;ExcessHet=0.0000;FS=0.962;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=10.29;ReadPosRankSum=-3.500e-02;SOR=0.672	GT:AD:DP:GQ:PL	0/1:36,27:63:99:662,0,793	19	0	1	1
chr2	94875721	94875723	GCC	-	exonic	TEKT4	.	nonframeshift deletion	TEKT4:NM_001286559:exon5:c.524_526del:p.R176del	.	.	429	966	127	0	0	127	0.0616804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	204.3	36	chr2	94875720	.	TGCC	T	204.3	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.285e+00;DP=1639;ExcessHet=0.0000;FS=6.363;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=58.43;MQRankSum=-1.084e+01;QD=1.67;ReadPosRankSum=1.49;SOR=0.272	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:167,0:167:99:.:.:0,101,1800	19	0	1	1
chr2	94875726	94875726	-	GCA	exonic	TEKT4	.	nonframeshift insertion	TEKT4:NM_001286559:exon5:c.529_530insGCA:p.D177delinsGN	.	.	431	962	129	0	0	129	0.0628349	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	208.06	36	chr2	94875726	.	G	GGCA	208.06	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.371e+00;DP=1576;ExcessHet=0.0000;FS=6.510;InbreedingCoeff=-0.0529;MLEAC=1;MLEAF=0.028;MQ=58.44;MQRankSum=-1.080e+01;QD=1.72;ReadPosRankSum=1.23;SOR=0.251	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:160,0:160:52:.:.:0,52,4072	17	0	1	3
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I	.	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.207	B	0.092	B	0.005	N	0.996	D	-0.23	N	4.47	T	-0.881	T	0.003	T	0.423	-1.806	0.009	1.05	1.049	-0.033	7.455	0.085	0.0024401301091	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74658435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.207	0.29891	B	0.092	0.30031	B	0.004769	0.33407	N	0.246841	0.99495	0.23405	N	0.755	0.19153	N	4.47	0.02084	T	0.82	0.01813	N	0.154	0.15888	-0.8811	0.49673	T	0.003	0.01026	T	10	0.04464045	0.03444	T	0.00244	0.04813	T	0.085	0.24743	0.341	0.33302	0.0716867268079	0.06686	0.19181908011527898	0.19099	0.0456283365019	0.04953	0.691997289658	0.65993	T	0.022278	0.17204	T	-0.227197	0.17020	T	-0.564129	0.15990	T	0.118842300974592	0.14317	T	0.485551	0.14815	T	0.08219759	0.18923	0.12475681	0.30067	0.08219759	0.18923	0.12475681	0.30067	-2.689	0.07211	T	.	.	0.085	0.10014	B	.	.	0.349679	0.07231	3.825	0.6655202341939721	0.08092	0.00372	0.01892	N	AEFDGBI	0.024577	0.01544	N	-1.14107701514534	0.05928	0.2715614	-1.13613817439115	0.07019	0.3399133	3.91639178412095E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	1.05	0.19280	-0.335000	0.07917	2.530000	0.33163	0.302000	0.18967	0.001000	0.13787	1.000000	0.68203	0.052000	0.15357	0.3227:0.6773:0.0:0.0	7.455	0.26431	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	8192.58	228	chr2	94876587	.	C	A	8192.58	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.040e-01;DP=4322;ExcessHet=17.4423;FS=7.871;InbreedingCoeff=-0.5628;MLEAC=15;MLEAF=0.357;MQ=58.06;MQRankSum=-1.627e+01;QD=2.09;ReadPosRankSum=-3.458e+00;SOR=1.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:237,50:287:99:0|1:94876587_C_A:1386,0,9687:94876587	6	0	15	0
chr2	94876599	94876599	C	T	exonic	TEKT4	.	stopgain	TEKT4:NM_001286559:exon6:c.C592T:p.R198X	.	.	433	945	144	0	0	144	0.0707965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	.	.	.	.	0.451	N	1.000	D	.	.	.	.	.	.	.	.	.	2.179	13.24	-4.85	-0.463	-0.054	8.126	.	.	.	0.000199681	1.007e-05	0	0	0	0	0	0	7.452e-05	1.29e-05	2	154602	rs545808608	1.37e-05	1.573e-05	1.227e-05	1.515e-05	0.0002	8.95e-06	7.27e-06	1.586e-05	9.32e-06	2.988e-05	2.241e-05	0	0	0	0.0002	8.097e-06	6.627e-05	4.654e-05	1.971e-05	1.969e-05	0	4.03e-05	0.0002	5.24e-06	2.45e-06	.	.	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.450852	0.12509	N	0.736301	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.036	0.01068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471834	0.93405	D	0.439981	0.93322	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.228656	0.96291	35	0.97017541695677512	0.32010	0.24513	0.22417	N	AEFDGBI	0.102425	0.20547	N	0.0223710035112601	0.42872	2.591521	-0.371233761802137	0.25859	1.424696	0.00857241372916873	0.11701	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	-4.85	0.02911	0.076000	0.14570	1.506000	0.26990	0.302000	0.18967	0.898000	0.31380	0.817000	0.27092	0.256000	0.23417	0.7115:0.2885:0.0:0.0	8.126	0.30157	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	365.45	249	chr2	94876599	.	C	T	365.45	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-7.780e-01;DP=4617;ExcessHet=0.1072;FS=3.828;InbreedingCoeff=-0.0598;MLEAC=2;MLEAF=0.048;MQ=58.11;MQRankSum=-1.569e+01;QD=0.64;ReadPosRankSum=-1.991e+00;SOR=1.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:311,0:311:53:.:.:0,53,7786	19	0	2	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G	.	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.986	D	0.919	D	0.000	D	1.000	D	3.26	M	3.93	T	-1.109	T	0.045	T	0.571	3.511	17.94	2.43	1.049	4.806	10.548	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.425	33671.17	300	chr2	94876618	.	C	G	33671.17	.	AC=17;AF=0.425;AN=40;BaseQRankSum=-2.098e+00;DP=6579;ExcessHet=25.1139;FS=1.453;InbreedingCoeff=-0.7143;MLEAC=18;MLEAF=0.450;MQ=57.19;MQRankSum=-1.858e+01;QD=5.73;ReadPosRankSum=-2.736e+00;SOR=0.866	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:294,112:406:99:0|1:94876587_C_A:3818,0,12008:94876587	3	0	17	1
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C	.	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.048	B	0.017	B	0.105	N	1.000	D	1.645	L	4.19	T	-0.957	T	0.009	T	0.649	1.193	9.848	1.05	1.049	0.077	6.095	0.180	0.00282003103799	.	.	0.0020	0.0044	0.0012	0.0058	0	0.0016	0.0025	0.0012	0.00073	19	26028	rs72817671	5.478e-06	9.577e-06	5.451e-06	5.507e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.078	0.33923	T	0.094	0.39645	T	0.048	0.22112	B	0.017	0.18140	B	0.104906	0.19681	N	0.502966	0.998961	0.45775	D	2.51	0.73131	M	4.19	0.02716	T	-4.17	0.75456	D	0.327	0.36779	-0.9567	0.39789	T	0.009	0.03315	T	10	0.010076523	0.00226	T	0.00282	0.05898	T	0.180	0.45073	.	.	0.280181792013	0.27631	0.3283832477789456	0.32751	0.0418521914883	0.04503	0.566292226315	0.48154	T	0.161975	0.50645	T	-0.0952065	0.37216	T	-0.374534	0.36360	T	0.0299758459612643	0.01985	T	0.763824	0.39073	T	0.11296644	0.26684	0.099358894	0.23720	0.11296644	0.26684	0.099358894	0.23719	-7.259	0.55903	T	.	.	0.087	0.11414	B	.	.	2.884469	0.38179	20.7	0.9739629417086707	0.33750	0.03769	0.09084	N	AEFDGBI	0.024782	0.01590	N	-0.521150392773251	0.21396	1.135229	-0.512733045882346	0.21807	1.181449	3.92921537291663E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	1.05	0.19280	0.158000	0.16239	-0.300000	0.10122	0.302000	0.18967	0.046000	0.21249	0.000000	0.08366	0.706000	0.34326	0.5496:0.4504:0.0:0.0	6.095	0.19238	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.45	45706.22	343	chr2	94876632	.	C	T	45706.22	.	AC=18;AF=0.450;AN=40;BaseQRankSum=-3.939e+00;DP=7445;ExcessHet=30.0624;FS=0.645;InbreedingCoeff=-0.7872;MLEAC=19;MLEAF=0.475;MQ=56.72;MQRankSum=-1.920e+01;QD=6.73;ReadPosRankSum=-7.690e-01;SOR=0.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:301,148:449:99:0|1:94876587_C_A:5187,0,12125:94876587	2	0	18	1
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V	.	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.967	D	0.77	P	0.000	D	1.000	D	2.675	M	3.8	T	-1.154	T	0.035	T	0.579	2.768	15.22	2.43	0.866	3.036	8.354	0.186	0.00380674609401	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs142133592	3.422e-06	3.42e-06	4.086e-06	2.751e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.044	0.49663	D	0.967	0.56408	D	0.77	0.56828	P	0.000003	0.62929	D	0.059094	0.999993	0.58761	D	2.465	0.71551	M	3.8	0.03781	T	-0.93	0.24898	N	0.355	0.39659	-1.1543	0.00903	T	0.035	0.15030	T	10	0.2894683	0.46528	T	0.003807	0.08899	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.38576410498893454	0.38491	0.041304716601	0.04434	0.519737362862	0.41590	T	0.070106	0.33877	T	-0.102007	0.36092	T	-0.384302	0.35219	T	0.773092746734619	0.44626	D	0.518148	0.16784	T	0.11624111	0.27419	0.19920714	0.43791	0.11624111	0.27418	0.19920714	0.43790	-6.086	0.46993	T	.	.	0.080	0.07650	B	.	.	2.197892	0.28028	17.66	0.99758744490040718	0.84851	0.77619	0.38185	D	AEFDGBI	0.245424	0.36636	N	0.178097147237031	0.50149	3.207675	0.0117110839863197	0.40257	2.399706	0.274437957628434	0.18925	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	2.475000	0.44821	2.894000	0.35409	0.373000	0.20310	0.967000	0.34061	1.000000	0.68203	0.500000	0.29017	1.0:0.0:0.0:0.0	8.354	0.31480	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4524	58582.68	398	chr2	94876671	.	A	G	58582.68	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-7.281e+00;DP=8408;ExcessHet=36.0830;FS=0.633;InbreedingCoeff=-0.8261;MLEAC=19;MLEAF=0.452;MQ=56.56;MQRankSum=-2.037e+01;QD=7.10;ReadPosRankSum=4.57;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:350,180:530:99:0|1:94876671_A_G:6494,0,13998:94876671	2	0	19	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T	.	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.003	B	0.013	B	0.040	N	0.984	N	3.03	M	4.15	T	-0.940	T	0.013	T	0.4	0.667	7.574	-2.21	-0.321	0.130	6.926	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4524	58619.68	400	chr2	94876674	.	G	A	58619.68	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-6.968e+00;DP=8442;ExcessHet=36.0830;FS=0.632;InbreedingCoeff=-0.8261;MLEAC=19;MLEAF=0.452;MQ=56.55;MQRankSum=-2.055e+01;QD=7.10;ReadPosRankSum=4.91;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:355,180:535:99:0|1:94876671_A_G:6479,0,14107:94876671	2	0	19	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C	.	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.572	P	0.148	B	0.002	N	1.000	D	1.87	L	4.11	T	-0.879	T	0.010	T	0.568	2.034	12.76	2.43	1.049	0.890	10.548	0.132	0.0041459355799	.	0.000199681	0.0026	0.0055	0.0008	0.0029	0.0009	0.0031	0.0024	0.0009	0.0016136	42	26028	rs1052809	2.266e-05	4.721e-05	2.05e-05	2.484e-05	0.0002	1.616e-05	1.421e-05	7.131e-05	5.487e-05	5.977e-05	6.711e-05	0	0	0	0.0002	9.902e-06	8.287e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.103	0.30097	T	0.066	0.44501	T	0.572	0.38625	P	0.148	0.34065	B	0.002019	0.37457	N	0.261531	0.999997	0.58761	D	1.775	0.45938	L	4.11	0.02916	T	-4.13	0.75139	D	0.316	0.35620	-0.8786	0.49872	T	0.010	0.03856	T	10	0.01365149	0.00289	T	0.004146	0.09931	T	0.132	0.35948	.	.	0.491455083755	0.48780	0.5777951626377072	0.57708	0.0586537782296	0.06507	0.432330518961	0.29528	T	0.138567	0.47212	T	-0.133279	0.30966	T	-0.429223	0.30023	T	0.0535928154404934	0.06120	T	0.627737	0.24333	T	0.19040447	0.40625	0.158895	0.37084	0.19040447	0.40624	0.158895	0.37084	-4.535	0.31344	T	.	.	0.086	0.10883	B	.	.	2.921119	0.38776	20.8	0.98416532006618407	0.41234	0.09068	0.14897	N	AEFDGBI	0.064399	0.12503	N	-0.384009387342546	0.26038	1.418045	-0.456280458516489	0.23371	1.274154	0.0109668901558148	0.12109	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	1.541000	0.35732	0.966000	0.23025	0.302000	0.18967	0.091000	0.22601	0.000000	0.08366	0.392000	0.26603	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.4048	26857.9	353	chr2	94876731	.	C	T	26857.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.609e+00;DP=7291;ExcessHet=25.1139;FS=3.279;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=57.21;MQRankSum=-2.034e+01;QD=3.85;ReadPosRankSum=-1.165e+00;SOR=0.996	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:367,131:498:99:.:.:3119,0,9258	4	0	17	0
chr2	94876737	94876737	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C730A:p.P244T	.	.	420	623	478	1	0	480	0.2781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	1.0	D	1.0	D	0.000	D	1.000	D	2.125	M	4.16	T	-1.119	T	0.028	T	0.662	3.703	18.81	2.43	1.049	3.135	10.548	0.305	0.00856323149497	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.49	0.72568	M	4.16	0.02791	T	-6.15	0.90178	D	0.449	0.48689	-1.1193	0.02376	T	0.028	0.11926	T	10	0.86077964	0.85296	D	0.008563	0.22631	T	0.305	0.62620	0.82	0.93328	0.439763647824	0.43599	0.7402352279972402	0.73968	0.238822044954	0.26437	0.431803226471	0.29455	T	0.211342	0.57208	T	-0.00288391	0.51258	T	-0.241919	0.50610	T	0.997360169887543	0.91383	D	0.868613	0.57103	D	0.468639	0.65206	0.43668678	0.67113	0.468639	0.65207	0.43668678	0.67113	-9.492	0.70809	D	.	.	0.247	0.48188	B	.	.	3.384766	0.46838	22.4	0.99756532367682871	0.84694	0.76429	0.37483	D	AEFDGBI	0.183688	0.31101	N	0.284556175349996	0.55366	3.700636	0.149238450167121	0.47101	2.945506	0.878548229655452	0.25568	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	3.367000	0.52075	5.126000	0.47622	0.302000	0.18967	1.000000	0.71638	1.000000	0.68203	0.409000	0.26983	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2857	9909.42	357	chr2	94876737	.	C	A	9909.42	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.994e+00;DP=5582;ExcessHet=9.6308;FS=1.817;InbreedingCoeff=-0.4000;MLEAC=12;MLEAF=0.286;MQ=56.98;MQRankSum=-1.456e+01;QD=2.02;ReadPosRankSum=-2.106e+00;SOR=0.954	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:436,59:495:99:0|1:94876737_C_A:1138,0,18083:94876737	9	0	12	0
chr2	94876740	94876740	A	C	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A733C:p.T245P	.	.	420	617	484	1	0	486	0.282558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.125	B	0.085	B	0.131	N	1.000	N	2.43	M	4.2	T	-0.996	T	0.012	T	0.464	1.473	10.87	1.2	0.866	-1.017	2.624	0.095	0.00171498663639	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.114	0.36765	T	0.125	0.26866	B	0.085	0.29395	B	0.131368	0.18625	N	0.557409	0.999999	0.08975	N	1.955	0.52871	M	4.2	0.02689	T	-3.07	0.63207	D	0.235	0.26475	-0.9960	0.31028	T	0.012	0.04558	T	10	0.1880475	0.34342	T	0.001715	0.02856	T	0.095	0.27398	0.692	0.82938	0.242825505644	0.23883	0.760572030042999	0.76005	0.0377657102004	0.04010	0.42577329278	0.28630	T	0.133664	0.46448	T	-0.179838	0.23760	T	-0.496102	0.22753	T	0.267470479011536	0.23639	T	0.608739	0.23025	T	0.12824208	0.29987	0.113306135	0.27344	0.12824208	0.29987	0.113306135	0.27344	-6.544	0.50625	T	.	.	0.070	0.03552	B	.	.	1.347397	0.17547	13.23	0.9830799806719418	0.40116	0.00645	0.02815	N	AEFDGBI	0.062337	0.11976	N	-0.575656789009934	0.19685	1.032239	-0.641925779952209	0.18420	0.9839579	4.74237286387209E-4	0.07095	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	1.2	0.20181	-0.628000	0.05611	0.633000	0.20247	0.373000	0.20310	0.000000	0.06391	0.002000	0.18203	0.392000	0.26603	0.5413:0.283:0.1757:0.0	2.624	0.04627	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2857	10071.42	352	chr2	94876740	.	A	C	10071.42	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-1.875e+00;DP=5568;ExcessHet=9.6308;FS=1.912;InbreedingCoeff=-0.4000;MLEAC=12;MLEAF=0.286;MQ=57.10;MQRankSum=-1.500e+01;QD=2.08;ReadPosRankSum=-2.492e+00;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:434,59:493:99:0|1:94876737_C_A:1144,0,17982:94876737	9	0	12	0
chr2	95108402	95108402	T	C	exonic	MRPS5	.	nonsynonymous SNV	MRPS5:NM_001321995:exon5:c.A173G:p.Y58C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.001	B	0.001	B	0.488	N	1.000	N	-0.205	N	.	.	-1.004	T	0.043	T	0.07	1.280	10.18	-10.7	-1.597	0.093	11.864	0.136	0.00253713059722	.	0.00159744	0.0005	0	8.658e-05	0.0061	0	0	0	0.0001	0.0004204	65	154602	rs200730619	0.0001	0.0001	9.399e-05	0.0001	0.0030	9.542e-05	9.023e-05	0.0026	0.0024	0	2.237e-05	0	0.0030	0	0	1.799e-06	0.0002	0.0003	0.0003	0.0003	0.0002	0.0004	0.0060	0.0002	0.0002	0.0043	0.0038	0	0	6.533e-05	0	0.0060	0	0	1.47e-05	0.0009	0.0017	0.179	0.22053	T	0.189	0.28575	T	0.0	0.02946	B	0.0	0.01387	B	0.487683	0.05017	N	1.275860	1	0.08975	N	0.49	0.13296	N	.	.	.	0.54	0.02764	N	0.11	0.09631	-1.0036	0.28874	T	0.043	0.18701	T	9	0.009473264	0.00214	T	0.002537	0.05093	T	0.136	0.36778	.	.	0.462982567029	0.45924	0.47109152772083074	0.47028	0.144972252349	0.16379	0.234599769115	0.02325	T	0.008807	0.08060	T	-0.639357	0.00084	T	-0.687443	0.06538	T	0.0243605395120875	0.01191	T	0.708429	0.31914	T	0.0254679	0.01489	0.03159915	0.01773	0.0254679	0.01488	0.03159915	0.01772	-2.864	0.08788	T	.	.	0.059	0.00730	B	.	.	-0.034472	0.04052	0.938	0.55374160883425683	0.05329	0.02632	0.07225	N	AEFBI	0.045979	0.07582	N	-1.68842875784931	0.00884	0.03824251	-1.77556239889096	0.00841	0.03755338	0.998899508076711	0.37915	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.34	-10.7	0.00191	0.163000	0.16338	-2.210000	0.04053	-0.831000	0.02872	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3912:0.4049:0.2039	11.864	0.51762	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	882.98	36	chr2	95108402	.	T	C	882.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.298;DP=768;ExcessHet=0.0000;FS=1.018;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.48;ReadPosRankSum=-5.730e-01;SOR=0.509	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1138	20	0	1	0
chr2	95152724	95152724	C	G	exonic	ZNF514	.	nonsynonymous SNV	ZNF514:NM_001318005:exon4:c.G386C:p.G129A	.	.	420	1095	6	1	0	8	0.00363967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.996	D	0.992	D	.	.	0.994	N	2.77	M	5.48	T	-1.066	T	0.014	T	0.14	1.991	12.62	2.64	1.479	0.085	8.852	0.073	0.0024547953876	.	0.000798722	0.0006	0	0.0002	0	0	0.0002	0.0033	0.0032	0.0005239	81	154602	rs150402017	0.0003	0.0003	0.0002	0.0004	0.0038	0.0003	0.0003	0.0033	0.0032	0.0002	6.708e-05	0	2.519e-05	0	0.0038	9.712e-05	0.0003	0.0037	0.0003	0.0003	0.0002	0.0003	0.0041	0.0002	0.0002	0.0027	0.0023	7.218e-05	0	0	0	0	0	0.0068	0.0002	0	0.0041	0.011	0.55530	D	0.076	0.42614	T	0.996	0.68779	D	0.992	0.80445	D	.	.	.	.	0.993668	0.23670	N	2.67	0.78151	M	5.48	0.00939	T	-4.25	0.76094	D	0.194	0.21319	-1.0655	0.10432	T	0.014	0.05608	T	9	0.008033723	0.00182	T	0.002455	0.04840	T	0.073	0.21317	.	.	0.529260826313	0.52574	0.0459931756812455	0.04543	0.194429881254	0.21783	0.249985530972	0.03766	T	0.196121	0.55240	T	-0.577589	0.00199	T	-0.604549	0.12431	T	0.152459502279626	0.17298	T	0.0153985	0.00087	T	0.27821246	0.50876	0.24464338	0.49935	0.27821246	0.50876	0.24464338	0.49934	-8.425	0.63931	D	.	.	0.293	0.52459	B	.;.	.;.	1.718054	0.21875	15.39	0.99375901566082558	0.61671	0.34949	0.25188	N	AEFBI	0.067182	0.13194	N	0.149185391558516	0.48774	3.085551	-0.0865050990825504	0.35948	2.085878	0.0298807620608008	0.13911	0.562547	0.31514	0	0.588066	0.40923	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.64	2.64	0.30504	0.199000	0.17037	0.337000	0.17343	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.176000	0.21171	0.0:1.0:0.0:0.0	8.852	0.34364	.	.	Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1034.98	39	chr2	95152724	.	C	G	1034.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.148;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.58;ReadPosRankSum=2.27;SOR=0.667	GT:AD:DP:GQ:PL	0/1:63,45:108:99:1049,0,1609	20	0	1	0
chr2	95181919	95181919	C	G	exonic	ZNF2	.	nonsynonymous SNV	ZNF2:NM_001291604:exon3:c.C851G:p.T284S	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.044	B	0.045	B	0.007	N	0.805	N	0.315	N	1.87	T	-1.022	T	0.056	T	0.447	1.912	12.35	3.04	1.305	3.191	13.253	0.111	0.00344913426551	.	0.000599042	0.0001	0	0	0	0	0	0	0.0010	0.0001294	20	154602	rs545220328	5.267e-05	5.267e-05	1.77e-05	8.8e-05	0.0009	4.277e-05	3.952e-05	0.0007	0.0007	0	0	0	0	0	0	0	3.311e-05	0.0009	4.593e-05	4.593e-05	0	9.393e-05	0.0014	2.107e-05	1.525e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	.	.	.	0.105	0.45110	T	.	.	.	.	.	.	0.006535	0.31969	N	0.146384	0.883611	0.29074	N	.	.	.	.	.	.	.	.	.	0.118	0.25253	-1.0225	0.22899	T	0.056	0.23753	T	10	0.017885089	0.00385	T	0.003449	0.07786	T	.	.	.	.	0.349429436713	0.34558	0.059002024700113	0.05841	.	.	0.76438498497	0.76583	T	0.107858	0.51839	T	-0.376758	0.03265	T	-0.359515	0.38109	T	0.028833272773638	0.01812	T	0.159184	0.02165	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.38318	B	.;.;.;.;.	.;.;.;.;.	3.165179	0.42900	21.6	0.91712202396789455	0.21007	0.93044	0.57185	D	AEFBCI	0.384697	0.46572	N	-0.450631467582182	0.23718	1.275669	-0.275226394912408	0.28917	1.616043	0.0122407930556378	0.12298	0.562547	0.31514	0	0.546412	0.12157	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	4.94	3.04	0.34171	0.815000	0.26910	1.475000	0.26781	-0.214000	0.08267	0.360000	0.25842	0.831000	0.27213	0.987000	0.62547	0.0:0.6783:0.3217:0.0	13.253	0.59492	.	.	Zinc finger C2H2-type;.;Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1626.98	33	chr2	95181919	.	C	G	1626.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.790e-01;DP=829;ExcessHet=0.0000;FS=2.274;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=-2.000e-01;SOR=0.966	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1029	20	0	1	0
chr2	95274618	95274618	-	CTGGGC	exonic	PROM2	.	nonframeshift insertion	PROM2:NM_001165977:exon1:c.33_34insCTGGGC:p.L18_A19insGL	.	.	402	1118	2	0	0	2	0.000893655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0007	0	8.679e-05	0	0	7.717e-05	0	0.0054	0.0005369	83	154602	rs566664897	0.0003	0.0003	0.0002	0.0004	0.0036	0.0002	0.0002	0.0032	0.0031	0	0	0.0010	5.084e-05	0	0.0008	2.627e-05	0.0004	0.0036	0.0001	0.0001	8.995e-05	0.0001	0.0027	7.574e-05	6.279e-05	0.0016	0.0013	0	0	0	0.0006	0	0	0	4.412e-05	0	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1477.94	35	chr2	95274618	.	G	GCTGGGC	1477.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.205e+00;DP=784;ExcessHet=0.0000;FS=2.694;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.89;ReadPosRankSum=-6.350e-01;SOR=0.980	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1074	20	0	1	0
chr2	95275973	95275973	C	T	exonic	PROM2	.	nonsynonymous SNV	PROM2:NM_001165977:exon3:c.C338T:p.A113V	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	1.0	D	0.999	D	0.000	D	1.000	N	2.3	M	0.89	T	-0.903	T	0.213	T	0.432	2.544	14.47	3.82	2.176	1.905	10.096	0.242	0.0172888577174	7.7e-05	0.000998403	0.0010	0	9.831e-05	0	0	5.003e-05	0	0.0067	0.0007438	115	154602	rs201610848	0.0004	0.0004	0.0002	0.0006	0.0061	0.0004	0.0004	0.0057	0.0055	5.974e-05	0	0	0	0	0.0007	2.339e-05	0.0003	0.0061	0.0002	0.0002	0.0001	0.0003	0.0060	0.0002	0.0001	0.0043	0.0037	4.81e-05	0	0	0	0	0	0	4.41e-05	0	0.0060	0.006	0.61437	D	0.006	0.70582	D	1.0	0.90584	D	0.999	0.92359	D	0.000013	0.62929	D	0.000000	0.999996	0.08975	N	2.885	0.83555	M	0.89	0.45636	T	-2.91	0.60982	D	0.594	0.61341	-0.9026	0.47717	T	0.213	0.57401	T	10	0.013026059	0.00278	T	0.017289	0.38928	T	0.242	0.54781	.	.	0.511162291539	0.50756	0.7529631065999528	0.75243	0.624608782655	0.56662	0.461144626141	0.33468	T	0.155153	0.49675	T	-0.417625	0.01772	T	-0.369776	0.36914	T	0.176062120801811	0.18983	T	0.767123	0.39533	T	0.25673386	0.48715	0.24931781	0.50500	0.25673386	0.48714	0.24931781	0.50499	-8.622	0.65235	D	.	.	0.147	0.32348	B	.;.;.	.;.;.	4.264848	0.64845	24.8	0.99885964636143798	0.96126	0.17360	0.19803	N	AEFDBCI	0.083809	0.16981	N	0.0870131344430237	0.45859	2.835372	-0.087622398960666	0.35900	2.082602	0.999996866609518	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.608075	0.38828	0	0.620846	0.47308	0	.	.	4.77	3.82	0.43153	1.651000	0.36918	7.594000	0.61341	0.596000	0.33519	0.065000	0.21925	1.000000	0.68203	0.018000	0.11154	0.0:0.7957:0.2043:0.0	10.096	0.41651	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	967.98	40	chr2	95275973	.	C	T	967.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.994e+00;DP=789;ExcessHet=0.0000;FS=0.908;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=0.376;SOR=0.518	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1128	20	0	1	0
chr2	95275993	95275993	G	A	exonic	PROM2	.	nonsynonymous SNV	PROM2:NM_001165977:exon3:c.G358A:p.V120M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.034	B	0.059	B	0.251	N	1.000	N	0.69	N	1.27	T	-0.977	T	0.047	T	0.205	-1.972	0.007	1.92	-0.136	0.387	7.491	0.082	0.00827766716301	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1294949925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.529	0.07048	T	0.476	0.12037	T	0.034	0.20480	B	0.059	0.26602	B	0.251461	0.15501	N	0.585786	0.999983	0.18198	N	1.725	0.44537	L	1.27	0.36146	T	0.52	0.02853	N	0.372	0.41459	-0.9770	0.35683	T	0.047	0.19958	T	10	0.20596513	0.36842	T	0.008278	0.21928	T	0.082	0.23913	0.713	0.84872	0.0297737177859	0.01360	0.4112654167763644	0.41042	0.34295715848	0.36226	0.385582566261	0.23045	T	0.006327	0.05765	T	-0.227224	0.17018	T	-0.564168	0.15988	T	0.0674886527935567	0.08295	T	0.691931	0.30130	T	0.023884032	0.01167	0.046522837	0.06502	0.023884032	0.01167	0.046522837	0.06502	-2.317	0.04650	T	.	.	0.124	0.26731	B	.;.;.	.;.;.	1.124282	0.15103	11.59	0.81187557590405368	0.13562	0.09527	0.15263	N	AEFDBCI	0.081175	0.16422	N	-1.49591583100846	0.01879	0.08241647	-1.45596716489262	0.02717	0.1254672	0.999960658250678	0.48965	0.553676	0.25195	0	0.573888	0.26702	0	0.608075	0.38828	0	0.620846	0.47308	0	.	.	4.77	1.92	0.24912	0.794000	0.26619	3.327000	0.37595	-0.119000	0.14319	0.687000	0.28504	1.000000	0.68203	0.011000	0.09372	0.1731:0.1385:0.6884:0.0	7.491	0.26629	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1453.98	40	chr2	95275993	.	G	A	1453.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.14;DP=842;ExcessHet=0.0000;FS=1.445;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=0.125;SOR=0.876	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1128	20	0	1	0
chr2	95276098	95276098	A	G	exonic	PROM2	.	nonsynonymous SNV	PROM2:NM_001165977:exon3:c.A463G:p.M155V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.012	B	0.016	B	0.005	N	0.931	N	1.39	L	0.96	T	-1.050	T	0.065	T	0.293	1.081	9.414	1.14	0.206	0.335	3.644	0.034	0.00686623957686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.112e-06	4.104e-06	5.455e-06	2.755e-06	1.16e-05	1.48e-06	9.7e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	3.314e-05	1.16e-05	6.572e-06	6.567e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.228	0.18434	T	0.114	0.36765	T	0.012	0.16265	B	0.016	0.17743	B	0.005265	0.32945	N	0.301070	0.930784	0.27063	N	2.075	0.57047	M	0.96	0.42888	T	-1.1	0.28497	N	0.39	0.43126	-1.0498	0.14453	T	0.065	0.26878	T	10	0.15294328	0.28880	T	0.006866	0.18149	T	0.034	0.08419	0.612	0.74535	0.0954503805726	0.09146	0.43196929951677715	0.43113	0.174624828113	0.19662	0.306970357895	0.11448	T	0.013516	0.11676	T	-0.193772	0.21707	T	-0.516117	0.20689	T	0.096429169178009	0.11959	T	0.574243	0.20591	T	0.08209806	0.18895	0.11700569	0.28244	0.08209806	0.18895	0.11700569	0.28243	-3.969	0.23338	T	.	.	0.093	0.14523	B	.;.;.	.;.;.	0.818213	0.11893	8.458	0.899156135301867	0.19215	0.43728	0.27162	N	AEFDBI	0.088817	0.18004	N	-0.583071668216648	0.19459	1.018587	-0.494226145882771	0.22311	1.211266	0.999949657997711	0.47345	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.94	1.14	0.19817	0.099000	0.15047	0.545000	0.19369	0.756000	0.94297	0.822000	0.30018	0.860000	0.27479	0.300000	0.24500	0.6015:0.1941:0.2045:0.0	3.644	0.07716	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1249.98	40	chr2	95276098	.	A	G	1249.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.318;DP=883;ExcessHet=0.0000;FS=3.890;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.62;ReadPosRankSum=0.115;SOR=1.022	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1128	20	0	1	0
chr2	95480320	95480320	C	A	exonic	TRIM43B	.	nonsynonymous SNV	TRIM43B:NM_001164464:exon4:c.G723T:p.E241D,	.	.	.	.	.	.	.	.	.	.	.	2341767	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.608e-05	0.0003	0	0	0	2.166e-05	0	0	0.0030736	80	26028	rs370698848	0.0012	0.0018	0.0013	0.0012	0.0117	0.0012	0.0011	0.0107	0.0104	0.0117	0.0022	0.0010	0.0008	0.0040	0.0014	0.0008	0.0021	0.0004	0.0051	0.0094	0.0052	0.0050	0.0137	0.0048	0.0047	0.0127	0.0123	0.0137	0	0.0036	0.0003	0.0008	0.0039	0.0103	0.0017	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.96	0.00015	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0042305887	0.00085	T	.	.	.	.	.	.	.	.	.	0.022551735228837272	0.02207	.	.	0.635599792004	0.57939	T	0.003376	0.02778	T	.	.	.	.	.	.	.	.	.	0.039796	0.00275	T	0.05410032	0.10333	0.10459108	0.25124	0.05410032	0.10333	0.10459108	0.25123	-1.495	0.01754	T	.	.	0.058	0.01786	B	.;.	.;.	0.000528	0.04287	1.073	0.79696326801882411	0.12859	0.00032	0.00291	N	AEFI	.	.	.	.	.	.	.	.	.	1.25226630243118E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0455939	0.04545	1.38	-0.00655	0.13336	-1.651000	0.02091	-15.654000	0.00347	-0.425000	0.05218	0.000000	0.06391	0.000000	0.08366	0.365000	0.25999	0.5112:0.2896:0.1992:0.0	2.471	0.04286	489	0.76795	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	54.98	39	chr2	95480320	.	C	A	54.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.21;DP=783;ExcessHet=0.0000;FS=21.733;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=46.85;MQRankSum=-5.454e+00;QD=0.55;ReadPosRankSum=-1.950e+00;SOR=4.228	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr2	95480387	95480387	A	G	exonic	TRIM43B	.	nonsynonymous SNV	TRIM43B:NM_001164464:exon4:c.T656C:p.M219T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1218104095	1.372e-06	1.368e-06	0	2.759e-06	2.341e-05	2.3e-07	9e-08	3.89e-06	1.46e-06	0	0	0	0	0	0	0	0	2.341e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.72	0.79541	M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2233417	0.39110	T	.	.	.	.	.	.	.	.	.	0.26458714039319003	0.26371	.	.	0.648651003838	0.59794	T	0.096535	0.39844	T	.	.	.	.	.	.	.	.	.	0.340966	0.07383	T	0.06957293	0.15253	0.22052777	0.46831	0.06957293	0.15253	0.22052777	0.46830	-8.695	0.65713	D	.	.	0.645	0.70706	P	.;.	.;.	0.942621	0.13185	9.685	0.41051173677281894	0.02937	0.00432	0.02120	N	AEFI	.	.	.	.	.	.	.	.	.	1.09686028481045E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0436289	0.02737	1.38	0.112	0.13929	0.569000	0.23342	0.342000	0.17391	-1.370000	0.01171	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6465:0.0:0.0:0.3535	3.491	0.07200	489	0.76795	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	219.98	39	chr2	95480387	.	A	G	219.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.790e-01;DP=742;ExcessHet=0.0000;FS=1.533;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=32.81;MQRankSum=1.36;QD=6.67;ReadPosRankSum=-4.120e-01;SOR=1.276	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S,	.	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	.	.	.	.	.	.	1.000	N	1.32	L	2.56	T	-0.945	T	0.020	T	0.057	1.140	9.645	-5.28	-1.321	0.150	0.771	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.5	31056.74	205	chr2	95855390	.	T	C	31056.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.80;DP=5080;ExcessHet=54.0936;FS=20.631;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.44;MQRankSum=-1.119e+01;QD=6.32;ReadPosRankSum=-6.536e+00;SOR=2.000	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:192,67:259:99:0|1:95855390_T_C:1821,0,4988:95855390	0	0	21	0
chr2	95855402	95855402	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.C5957T:p.A1986V,	.	.	430	1069	23	0	0	23	0.0106432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	.	.	.	.	.	.	1.000	N	0.55	N	2.57	T	-0.954	T	0.019	T	0.064	2.508	14.34	-5.04	-0.601	1.436	5.100	0.048	0.000631896702872	.	.	0.0002	0.0001	8.678e-05	0	0	0.0003	0.0011	0.0002	3.84e-05	1	26028	rs76606859	2.053e-06	8.893e-06	4.086e-06	0	.	5.5e-07	1.5e-07	.	.	0	0	0	0	5.639e-05	0	0	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.085	0.32769	T	0.138	0.33780	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.57	0.13552	T	-1.77	0.41809	N	0.165	0.17416	-0.9544	0.40203	T	0.019	0.07846	T	7	0.08118898	0.13264	T	6.32E-4	0.00319	T	0.048	0.13305	.	.	0.0551355673512	0.04727	0.010211084344198413	0.00983	.	.	.	.	.	0.003816	0.03222	T	-0.347539	0.04883	T	-0.736992	0.04019	T	0.100647859275341	0.12429	T	0.462454	0.13421	T	0.03511514	0.04071	0.05560817	0.09786	0.03511514	0.04071	0.05560817	0.09786	-6.012	0.46381	T	.	.	0.260	0.49451	B	.	.	1.035434	0.14157	10.73	0.98637519765940418	0.44001	0.07756	0.13755	N	AEFI	0.042056	0.06477	N	-0.800839877268318	0.13288	0.6535874	-0.97423012277431	0.10366	0.5216334	2.64000259135655E-4	0.06244	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.04	0.02742	1.747000	0.37925	-0.122000	0.11711	0.318000	0.19305	0.993000	0.37899	0.000000	0.08366	0.055000	0.15596	0.2997:0.0:0.4912:0.2092	5.100	0.14091	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	122.11	207	chr2	95855402	.	G	A	122.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.271;DP=5032;ExcessHet=0.1072;FS=0.912;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=53.70;MQRankSum=-5.511e+00;QD=0.21;ReadPosRankSum=-2.359e+00;SOR=0.929	GT:AD:DP:GQ:PL	0/0:260,0:260:99:0,120,1800	19	0	2	0
chr2	95855406	95855406	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.G5953C:p.D1985H,	.	.	432	686	404	0	0	404	0.227477	.	.	679191	not_provided|Peritoneal_Gliomatosis	MedGen:C3661900|MedGen:C2938915	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.33	T	.	.	.	.	.	.	1.000	N	0.235	N	2.59	T	-0.942	T	0.018	T	0.062	0.675	7.614	-0.833	0.028	1.770	6.110	0.033	.	.	.	0.0207	0.0594	0.0264	0.0384	0.0257	0.0114	0.0158	0.0254	0.0092593	241	26028	rs77972623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.14793	T	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	1.92	0.00446	N	0.043	0.01577	-0.9422	0.42266	T	0.018	0.07282	T	7	0.0040079057	0.00077	T	.	.	.	0.033	0.08068	.	.	.	.	0.021892873855974753	0.02141	.	.	.	.	.	7.49E-4	0.00347	T	-0.353158	0.04532	T	-0.745064	0.03682	T	0.0110150628429415	0.00159	T	0.357964	0.08163	T	0.04395806	0.06944	0.059117828	0.11040	0.04395806	0.06944	0.059117828	0.11039	-2.163	0.03865	T	.	.	0.356	0.56978	A	.	.	1.452510	0.18737	13.90	0.61318576741591302	0.06679	0.06233	0.12222	N	AEFI	0.034264	0.04212	N	-0.644002368178195	0.17635	0.9091262	-0.743295799460967	0.15887	0.8377953	9.51251238247756E-6	0.01202	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-0.833	0.10237	1.509000	0.35387	1.837000	0.29159	0.284000	0.18682	1.000000	0.71638	0.009000	0.19889	0.063000	0.16184	0.1431:0.5616:0.2953:0.0	6.110	0.19319	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7228.38	236	chr2	95855406	.	C	G	7228.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=1.43;DP=5612;ExcessHet=17.4423;FS=6.424;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=53.45;MQRankSum=-6.363e+00;QD=1.79;ReadPosRankSum=-3.638e+00;SOR=1.400	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:243,44:287:99:0|1:95855390_T_C:544,0,9205:95855390	6	0	15	0
chr2	95855465	95855465	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5894T:p.D1965V,	.	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	0.891	D	2.175	M	2.08	T	-0.958	T	0.086	T	0.505	1.519	11.03	2.11	1.218	4.480	8.115	0.135	0.00152046796119	.	.	0.0001	0	0	0	0	0.0002	0	0.0001	3.84e-05	1	26028	rs758193735	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	9.579e-05	0.0001	0.0001	0	2.238e-05	0	0	0	0.0002	0.0001	8.304e-05	0.0002	2.627e-05	2.627e-05	2.569e-05	2.689e-05	0.0002	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0.0002	0.0	0.91255	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	0.891128	0.35955	D	.	.	.	2.08	0.20255	T	-7.97	0.96368	D	0.487	0.52119	-0.9578	0.39589	T	0.086	0.33522	T	7	0.3374629	0.50868	T	0.00152	0.02369	T	0.135	0.36572	0.261	0.20473	0.555947139552	0.55254	0.03433015608944265	0.03381	.	.	.	.	.	0.085602	0.37538	T	-0.267254	0.12065	T	-0.347368	0.39507	T	0.794141411781311	0.45961	D	0.918108	0.70532	D	0.7426072	0.80442	0.5686348	0.75026	0.7426072	0.80443	0.5686348	0.75027	-9.339	0.69852	D	.	.	0.351	0.56631	A	.	.	3.193842	0.43402	21.7	0.98466030591280462	0.41803	0.77538	0.38135	D	AEFI	0.291578	0.40267	N	-0.144656395320405	0.35463	2.037241	-0.294742134442014	0.28271	1.574943	1.17212494177188E-4	0.05269	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	2.11	0.26299	4.926000	0.63134	-0.291000	0.10192	0.312000	0.19173	1.000000	0.71638	0.000000	0.08366	0.369000	0.26088	0.0:0.0:0.0:1.0	8.115	0.30096	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3540.98	231	chr2	95855465	.	T	A	3540.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.88;DP=5639;ExcessHet=0.0000;FS=3.760;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.87;MQRankSum=5.48;QD=9.27;ReadPosRankSum=-2.982e+00;SOR=0.905	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:283,0:283:99:.:.:0,120,1800	20	0	1	0
chr2	95855466	95855466	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.G5893T:p.D1965Y,	.	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	.	.	0.998	N	1.83	L	2.1	T	-1.033	T	0.065	T	0.476	1.012	9.135	1.21	0.445	4.363	6.691	0.141	0.00104955117721	.	.	0.0001	0	0	0	0	0.0002	0	0.0001	3.84e-05	1	26028	rs777537100	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	9.579e-05	0.0001	0.0001	0	2.238e-05	0	0	0	0.0002	0.0001	8.305e-05	0.0002	2.628e-05	2.627e-05	2.569e-05	2.689e-05	0.0002	8.14e-06	5.14e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0.0002	0.02	0.49613	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.997917	0.22446	N	.	.	.	2.1	0.19990	T	-7.93	0.96269	D	0.506	0.53796	-1.0328	0.19554	T	0.065	0.26702	T	7	0.31357104	0.48807	T	0.00105	0.01191	T	0.141	0.37795	0.238	0.16912	0.520803792171	0.51724	0.06520554522100623	0.06459	.	.	.	.	.	0.084699	0.37337	T	-0.301956	0.08476	T	-0.397216	0.33709	T	0.494660794734955	0.32434	T	0.906909	0.67118	D	0.44076815	0.63452	0.30621958	0.56647	0.44076815	0.63452	0.30621958	0.56647	-9.65	0.71790	D	.	.	0.286	0.51806	B	.	.	3.181095	0.43184	21.7	0.97590278333556157	0.34786	0.75448	0.36941	D	AEFI	0.318806	0.42239	N	-0.256552350999491	0.30844	1.723628	-0.408636186083836	0.24744	1.356696	1.65893676392858E-5	0.02871	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	1.21	0.20240	4.859000	0.62653	-1.855000	0.04605	0.284000	0.18682	1.000000	0.71638	0.000000	0.08366	0.356000	0.25796	0.0:0.8385:0.0:0.1615	6.691	0.22363	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3540.98	231	chr2	95855466	.	C	A	3540.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.23;DP=5638;ExcessHet=0.0000;FS=3.760;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.84;MQRankSum=5.48;QD=9.27;ReadPosRankSum=-2.835e+00;SOR=0.905	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:283,0:283:99:.:.:0,120,1800	20	0	1	0
chr2	95855506	95855506	T	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5853C:p.Q1951H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	.	.	1.000	N	1.395	L	1.92	T	-1.018	T	0.050	T	0.164	-1.031	0.218	-4.22	-2.242	-0.769	4.02	0.070	0.000751096101869	.	.	1.657e-05	0	0	0	0	3.002e-05	0	0	3.84e-05	1	26028	rs762703281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.41096	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.92	0.23082	T	-4.52	0.78302	D	0.214	0.23884	-1.0176	0.24495	T	0.050	0.21339	T	7	0.101623595	0.18577	T	7.51E-4	0.00529	T	0.070	0.20419	0.157	0.06070	0.0401082797425	0.02173	0.037177813221972306	0.03664	.	.	.	.	.	0.059557	0.31149	T	-0.24979	0.14124	T	-0.596583	0.13100	T	0.214012049414617	0.21160	T	0.407359	0.10471	T	0.1643707	0.36640	0.17653742	0.40194	0.1643707	0.36639	0.17653742	0.40194	-6.091	0.47035	T	.	.	0.3	0.52985	B	.	.	1.239825	0.16352	12.49	0.53876015467094185	0.05025	0.04613	0.10272	N	AEFI	0.037669	0.05216	N	-1.11973551420413	0.06292	0.2892753	-1.34486909487383	0.03866	0.1812425	0.00126918703602385	0.08390	0.706548	0.73137	0	0.724815	0.89359	0	0.601832	0.32385	0	0.636168	0.56350	0	.	.	2.11	-4.22	0.03541	-0.350000	0.07769	-13.525000	0.00453	-0.630000	0.04515	0.898000	0.31380	0.000000	0.08366	0.050000	0.15192	0.1424:0.5468:0.1433:0.1676	4.02	0.09148	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	90.98	387	chr2	95855506	.	T	G	90.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.164e+00;DP=7449;ExcessHet=0.0000;FS=0.698;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=46.72;MQRankSum=-3.121e+00;QD=0.39;ReadPosRankSum=1.38;SOR=0.813	GT:AD:DP:GQ:PL	0/0:358,0:358:99:0,120,1800	20	0	1	0
chr2	95855532	95855532	T	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5827C:p.I1943L,	.	.	432	980	109	1	0	111	0.0535973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	.	.	.	.	.	.	1.000	N	0	N	2.54	T	-0.967	T	0.013	T	0.077	-0.366	2.274	-2.62	-0.584	-0.671	0.732	0.005	.	.	.	0.0326	0.0706	0.0182	0.0090	0.0231	0.0311	0.0376	0.0445	7.68e-05	2	26028	rs112858216	6.854e-07	6.156e-06	1.364e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	0	1.313e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.119	0.28026	T	0.037	0.51737	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.54	0.13916	T	-0.89	0.24026	N	0.187	0.20395	-0.9674	0.37733	T	0.013	0.04843	T	7	0.0037541986	0.00070	T	.	.	.	0.005	0.00259	0.247	0.18293	.	.	0.029755129249007927	0.02924	.	.	.	.	.	0.001717	0.01139	T	-0.373008	0.03445	T	-0.773577	0.02653	T	0.00218303418063386	0.00023	T	0.340666	0.07366	T	0.044085097	0.06984	0.046755914	0.06587	0.044085097	0.06984	0.046755914	0.06587	-3.964	0.23263	T	.	.	0.161	0.35498	B	.	.	-0.079786	0.03764	0.785	0.7016925376513895	0.09208	0.01678	0.05360	N	AEFI	0.043258	0.06816	N	-1.01735734093612	0.08243	0.3858304	-1.18373099282675	0.06180	0.2967244	2.11620199757736E-5	0.03498	0.706548	0.73137	0	0.724815	0.89359	0	0.601832	0.32385	0	0.636168	0.56350	0	.	.	2.11	-2.62	0.05793	-0.723000	0.05056	-11.676000	0.00585	0.312000	0.19173	0.000000	0.06391	0.000000	0.08366	0.143000	0.20056	0.1943:0.1355:0.1985:0.4718	0.732	0.00897	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	192.98	387	chr2	95855532	.	T	G	192.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.502e+00;DP=7346;ExcessHet=0.0000;FS=7.293;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=45.13;MQRankSum=-5.089e+00;QD=0.48;ReadPosRankSum=1.53;SOR=1.259	GT:AD:DP:GQ:PL	0/0:358,0:358:99:0,120,1800	20	0	1	0
chr2	95855549	95855549	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5810G:p.N1937S,	.	.	442	278	792	10	0	812	0.593567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	.	.	.	.	.	.	1.000	N	-0.55	N	2.62	T	-0.930	T	0.011	T	0.014	-2.217	0.005	-0.838	-0.224	0.602	6.069	0.027	.	.	.	0.4955	0.4792	0.5	0.4994	0.4998	0.4950	0.4987	0.4997	0.0874443	2276	26028	rs5005869	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.296	0.14694	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.23	0.10656	N	0.021	0.00339	-0.9299	0.44153	T	0.011	0.04088	T	7	0.0016410053	0.00020	T	.	.	.	0.027	0.05988	.	.	.	.	0.0144060030913769	0.01397	.	.	.	.	.	0.002	0.01223	T	-0.411715	0.01936	T	-0.829176	0.01277	T	0.00502627076001595	0.00054	T	0.545645	0.18668	T	0.016608926	0.00209	0.02213417	0.00245	0.016608926	0.00209	0.02213417	0.00245	-4.21	0.26896	T	.	.	0.100	0.17060	B	.	.	-0.269215	0.02755	0.369	0.23312518342213173	0.00979	0.00866	0.03436	N	AEFI	0.023348	0.01289	N	-1.09098549269488	0.06808	0.3144812	-1.2104876692623	0.05741	0.2743807	9.86009276359309E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-0.838	0.10218	0.492000	0.22144	-6.933000	0.01270	0.312000	0.19173	0.073000	0.22155	0.000000	0.08366	0.002000	0.04165	0.0:0.3513:0.0:0.6487	6.069	0.19105	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.5	75221.74	386	chr2	95855549	.	T	C	75221.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.304e+00;DP=7464;ExcessHet=54.0936;FS=12.010;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=44.23;MQRankSum=-1.248e+01;QD=10.32;ReadPosRankSum=0.574;SOR=1.209	GT:AD:DP:GQ:PL	0/1:183,177:360:99:4104,0,5006	0	0	21	0
chr2	95855576	95855576	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.T5783C:p.I1928T,	.	.	453	483	584	2	0	588	0.378378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	.	.	.	.	.	.	1.000	N	1.175	L	2.41	T	-1.026	T	0.039	T	0.224	1.957	12.50	2.11	1.218	0.837	8.115	0.016	.	.	.	0.0351	0.0714	0.0215	0.0369	0.0035	0.0411	0.0420	0.0134	0.0472952	1231	26028	rs5005868	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	8.988e-05	0	0	0	0	0	0.0004	0.0001	0	0.0001	0.0001	0.0002	8.079e-05	0.0002	8.674e-05	7.264e-05	0.0001	9.902e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.061	0.37118	T	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	0.999854	0.20048	N	.	.	.	2.41	0.15492	T	-2.88	0.60507	D	0.111	0.09772	-1.0255	0.21919	T	0.039	0.16634	T	7	0.0018533468	0.00025	T	.	.	.	0.016	0.02506	.	.	.	.	0.019306205368593718	0.01884	.	.	.	.	.	0.00751	0.06912	T	-0.24663	0.14515	T	-0.592043	0.13489	T	0.0121704833066968	0.00195	T	0.355564	0.08068	T	0.13378952	0.31107	0.17544822	0.40011	0.13378952	0.31107	0.17544822	0.40010	-5.456	0.41455	T	.	.	0.137	0.29914	B	.	.	2.390189	0.30693	18.52	0.99376893328488414	0.61715	0.31313	0.24306	N	AEFI	0.047864	0.08107	N	-0.41657885139222	0.24888	1.347055	-0.520845466279587	0.21587	1.168515	1.17212494177188E-4	0.05269	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	2.11	0.26299	1.107000	0.30724	-0.057000	0.12472	0.351000	0.19951	0.797000	0.29682	0.000000	0.08366	0.192000	0.21661	1.0:0.0:0.0:0.0	8.115	0.30096	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.5	63179.74	326	chr2	95855576	.	A	G	63179.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.434e+00;DP=6464;ExcessHet=54.0936;FS=27.969;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=46.08;MQRankSum=-1.255e+01;QD=10.07;ReadPosRankSum=-2.075e+00;SOR=1.916	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:186,121:307:99:.:.:3400,0,5211	0	0	21	0
chr2	95855586	95855586	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5773G:p.M1925V,	.	.	447	884	189	2	0	193	0.0984192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	.	.	.	.	.	.	1.000	N	0.625	N	2.59	T	-0.961	T	0.019	T	0.071	-0.386	2.186	-2.48	-0.579	0.734	3.442	0.035	0.000861707961223	.	.	0.0008	0.0001	0.0009	0.0002	0.0002	0.0014	0	0.0001	3.84e-05	1	26028	rs201192250	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.24758	T	0.137	0.33894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	-2.2	0.49519	N	0.124	0.11626	-0.9610	0.38993	T	0.019	0.07800	T	7	0.011997491	0.00260	T	8.62E-4	0.00755	T	0.035	0.08770	.	.	0.0806252709748	0.07271	0.015437605054057783	0.01499	.	.	.	.	.	0.004928	0.04354	T	-0.342361	0.05226	T	-0.729554	0.04347	T	0.0291781713714631	0.01865	T	0.515548	0.16619	T	0.11939599	0.28113	0.13833767	0.33041	0.11939599	0.28113	0.13833767	0.33040	-3.711	0.19481	T	.	.	0.227	0.45954	B	.	.	0.618436	0.09867	6.630	0.39056500088029883	0.02672	0.17497	0.19862	N	AEFI	0.042474	0.06596	N	-0.697976344310311	0.16079	0.8160669	-0.828039099870389	0.13816	0.7187932	1.99158050687805E-5	0.02871	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-2.48	0.06052	0.550000	0.23052	-0.005000	0.13145	0.312000	0.19173	0.994000	0.38300	0.000000	0.08366	0.117000	0.19042	0.3728:0.0:0.19:0.4372	3.442	0.07037	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8954.51	309	chr2	95855586	.	T	C	8954.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=0.765;DP=6041;ExcessHet=30.0624;FS=14.124;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=46.89;MQRankSum=-6.696e+00;QD=1.78;ReadPosRankSum=-2.125e+00;SOR=2.133	GT:AD:DP:GQ:PL	0/1:258,32:290:99:123,0,7755	3	0	18	0
chr2	95855588	95855588	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5771G:p.Q1924R,	.	.	449	591	480	2	0	484	0.290516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	.	.	.	.	.	.	1.000	N	0.67	N	2.4	T	-0.978	T	0.023	T	0.059	-0.264	2.731	0.82	0.218	1.729	2.541	0.035	.	.	.	0.0306	0.0658	0.0188	0.0337	0.0028	0.0359	0.0324	0.0111	0.0379591	988	26028	rs5005867	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-2.4	0.52776	N	0.054	0.02559	-0.9776	0.35548	T	0.023	0.09968	T	7	0.004524857	0.00093	T	.	.	.	0.035	0.08770	.	.	.	.	0.014319341971499302	0.01388	.	.	.	.	.	0.034191	0.23222	T	-0.342862	0.05192	T	-0.730274	0.04316	T	0.0218009842485075	0.00887	T	0.374863	0.08927	T	0.052712794	0.09870	0.11261669	0.27173	0.052712794	0.09870	0.11261669	0.27172	-5.986	0.46163	T	.	.	0.14	0.30686	B	.	.	1.453026	0.18743	13.90	0.88078949201552847	0.17700	0.32438	0.24585	N	AEFI	0.045481	0.07443	N	-0.542064366665841	0.20732	1.095167	-0.636773118221108	0.18551	0.9915041	9.62839158373236E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	0.82	0.17932	2.106000	0.41459	0.119000	0.14890	-0.667000	0.04321	1.000000	0.71638	0.000000	0.08366	0.084000	0.17470	0.0:0.1714:0.2923:0.5363	2.541	0.04438	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.5	49926.74	306	chr2	95855588	.	T	C	49926.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.094e+00;DP=5999;ExcessHet=54.0936;FS=32.611;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=47.18;MQRankSum=-1.171e+01;QD=8.52;ReadPosRankSum=-4.041e+00;SOR=2.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:186,105:291:99:.:.:2728,0,5314	0	0	21	0
chr2	95855996	95855996	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5363G:p.E1788G,	.	.	423	1084	14	1	0	16	0.00732601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	.	.	.	.	.	.	0.995	N	2.025	M	2.09	T	-0.997	T	0.058	T	0.124	-0.418	2.049	-2.64	-0.653	1.027	4.150	0.104	.	.	.	0.0017	0.0001	0.0002	0	0	0.0002	0.0012	0.0107	0.0001921	5	26028	rs2696787	0.0007	0.0007	0.0003	0.0011	0.0110	0.0007	0.0007	0.0104	0.0101	8.965e-05	2.251e-05	0	2.521e-05	0	0.0021	3.78e-05	0.0005	0.0110	0.0004	0.0004	0.0002	0.0006	0.0097	0.0003	0.0003	0.0075	0.0067	0.0002	0	0	0	0	0	0	7.35e-05	0.0005	0.0097	0.112	0.28900	T	0.408	0.14633	T	.	.	.	.	.	.	.	.	.	.	0.995364	0.23308	N	.	.	.	2.09	0.20122	T	-4.86	0.81187	D	0.181	0.19593	-0.9967	0.30838	T	0.058	0.24428	T	7	0.006890267	0.00156	T	.	.	.	0.104	0.29647	0.253	0.19223	0.151104730317	0.14643	0.021129201139812	0.02065	.	.	.	.	.	0.035255	0.23648	T	-0.295655	0.09077	T	-0.662465	0.08101	T	0.080917304577518	0.10104	T	0.457154	0.13128	T	0.08334489	0.19243	0.12760116	0.30714	0.08334489	0.19242	0.12760116	0.30713	-4.849	0.35157	T	.	.	0.048	0.00092	B	.	.	-0.441265	0.02063	0.189	0.69784133236065948	0.09083	0.42437	0.26877	N	AEFI	0.058147	0.10887	N	-1.0493760508998	0.07599	0.3535858	-1.22677742986635	0.05483	0.2613858	2.23717983239869E-5	0.03498	0.562547	0.31514	0	0.653731	0.59785	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	1.87	-2.64	0.05757	1.295000	0.32983	-0.329000	0.09904	-3.365000	0.00092	1.000000	0.71638	0.000000	0.08366	0.001000	0.02609	0.1817:0.1381:0.0:0.6802	4.150	0.09698	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	2028.33	44	chr2	95855996	.	T	C	2028.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.768e+00;DP=868;ExcessHet=0.0000;FS=3.303;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=54.06;MQRankSum=-3.454e+00;QD=15.60;ReadPosRankSum=1.83;SOR=1.022	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1198	19	0	1	1
chr2	95859895	95859895	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4960G:p.T1654A,	.	.	951	467	84	20	0	124	0.117202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.0	B	0.0	B	.	.	1.000	N	0	N	2.33	T	-0.992	T	0.020	T	0.208	-0.096	3.531	1.85	1.110	0.669	7.648	0.035	.	.	.	0.4444	0.4790	0.4373	0.4517	0.4253	0.4197	0.4345	0.4715	0.0150223	391	26028	rs75198192	4.293e-06	9.85e-05	5.648e-06	2.901e-06	2.806e-05	1.54e-06	1.02e-06	.	.	0	2.806e-05	0	0	4.058e-05	0	0	5.178e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.222	0.25748	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999981	0.18198	N	.	.	.	2.33	0.16492	T	-0.27	0.11366	N	0.03	0.00717	-0.9918	0.32141	T	0.020	0.08593	T	9	0.0021876395	0.00032	T	.	.	.	0.035	0.08770	.	.	.	.	0.004573925157677656	0.00430	.	.	0.524144649506	0.42211	T	0.007589	0.06987	T	-0.275691	0.11129	T	-0.633787	0.10130	T	0.00243692789656227	0.00025	T	0.119888	0.00926	T	0.026656736	0.01750	0.04326469	0.05342	0.026656736	0.01750	0.04326469	0.05342	-4.496	0.30836	T	.	.	0.118	0.24260	B	.	.	1.595165	0.20400	14.73	0.67616785214816144	0.08408	0.26935	0.23135	N	AEFI	0.048105	0.08173	N	-0.927352117069161	0.10206	0.4865986	-0.909991846583639	0.11858	0.6066753	7.95608252575671E-5	0.04552	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	0.945000	0.28654	2.286000	0.31928	-0.387000	0.05364	0.808000	0.29825	0.078000	0.22336	0.001000	0.02609	0.0:0.0:0.0:1.0	7.648	0.27501	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.3333	5668.45	83	chr2	95859895	.	T	C	5668.45	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.500e-02;DP=1947;ExcessHet=14.4320;FS=1.573;InbreedingCoeff=-0.4994;MLEAC=14;MLEAF=0.333;MQ=58.17;MQRankSum=-2.110e+00;QD=4.01;ReadPosRankSum=0.759;SOR=0.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:87,9:96:99:.:.:116,0,3586	7	0	14	0
chr2	95859919	95859922	TTTC	-	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.4933_4936del:p.E1645*,	.	.	883	625	11	3	0	17	0.0134175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006531	17	26028	rs768643439	2.009e-05	0.0015	1.84e-05	2.183e-05	6.369e-05	1.393e-05	1.199e-05	2.459e-05	1.549e-05	6.369e-05	2.828e-05	0	2.817e-05	0.0003	0	2.786e-06	3.457e-05	6.362e-05	6.589e-06	0.0009	1.289e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	233.09	99	chr2	95859918	.	ATTTC	A	233.09	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.380e-01;DP=2433;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0506;MLEAC=2;MLEAF=0.048;MQ=58.71;MQRankSum=-3.553e+00;QD=0.86;ReadPosRankSum=1.50;SOR=0.681	GT:AD:DP:GQ:PL	0/0:125,0:125:99:0,120,1800	19	0	2	0
chr2	95859969	95859969	-	T	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon82:c.4885_4886insA:p.L1629Hfs*4,	.	.	952	362	155	53	0	261	0.264975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4228	0.4631	0.4656	0.4778	0.3159	0.4147	0.4099	0.4349	0.0494083	1286	26028	rs111957693	5.008e-06	5.814e-05	5.648e-06	4.351e-06	.	2.08e-06	1.34e-06	.	.	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	28198.39	155	chr2	95859969	.	A	AT	28198.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.047e+00;DP=3277;ExcessHet=43.6797;FS=2.014;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.97;MQRankSum=-9.329e+00;QD=8.84;ReadPosRankSum=0.032;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,48:154:99:0|1:95859969_A_AT:1659,0,4249:95859969	1	0	20	0
chr2	95859970	95859970	G	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4885A:p.L1629M,	.	.	957	355	157	53	0	263	0.270298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.053	B	0.021	B	.	.	0.994	N	-1.7	N	2.42	T	-0.981	T	0.008	T	0.245	-3.330	0.001	-3.7	-1.374	-0.833	3.712	0.028	.	.	.	0.4545	0.4802	0.4743	0.4840	0.3659	0.4484	0.4515	0.4666	0.0009221	24	26028	rs77057279	9.318e-06	0.0001	7.073e-06	1.162e-05	.	5.2e-06	4.01e-06	.	.	0	0	0	0	0.0003	0	0	0	0	0	2.631e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.911	0.02361	T	0.243	0.24193	T	0.053	0.22573	B	0.021	0.19346	B	.	.	.	.	0.994063	0.23594	N	.	.	.	2.42	0.15376	T	1.44	0.00794	N	0.079	0.05414	-0.9807	0.34840	T	0.008	0.02801	T	9	0.0015536547	0.00018	T	.	.	.	0.028	0.06331	.	.	.	.	0.0034729447233706272	0.00324	.	.	0.598522663116	0.52695	T	0.002815	0.02207	T	-0.296982	0.08946	T	-0.664371	0.07975	T	0.000298728606434334	0.00002	T	0.227477	0.03026	T	0.060971648	0.12573	0.043196924	0.05321	0.060971648	0.12573	0.043196924	0.05321	-3.51	0.16572	T	.	.	0.079	0.07224	B	.	.	-0.617261	0.01525	0.098	0.057558437599456599	0.00015	0.02138	0.06301	N	AEFI	0.027961	0.02376	N	-1.81372414748207	0.00512	0.02205084	-1.77419214230889	0.00845	0.0377715	9.60209616443048E-5	0.04910	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-3.7	0.04150	-1.387000	0.02641	-5.763000	0.01604	-0.394000	0.05329	0.245000	0.24799	0.000000	0.08366	0.008000	0.08271	0.2827:0.0:0.3453:0.372	3.712	0.07953	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	28168.43	155	chr2	95859970	.	G	T	28168.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.065;DP=3274;ExcessHet=43.6797;FS=2.014;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.99;MQRankSum=-9.404e+00;QD=8.80;ReadPosRankSum=0.078;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,48:156:99:0|1:95859969_A_AT:1653,0,4302:95859969	1	0	20	0
chr2	95859975	95859975	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4880A:p.R1627Q,	.	.	957	354	158	53	0	264	0.271605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.93	T	0.055	B	0.007	B	.	.	1.000	N	-1.355	N	2.42	T	-0.947	T	0.010	T	0.097	-0.493	1.736	0.634	0.138	0.540	5.605	0.036	.	.	.	0.4301	0.4670	0.4743	0.4733	0.3036	0.4236	0.4062	0.4476	0.00073	19	26028	rs77757712	2.22e-05	6.841e-05	2.827e-05	1.597e-05	8.413e-05	1.591e-05	1.386e-05	2.23e-05	1.218e-05	3.172e-05	8.413e-05	0	0	6.31e-05	0	1.855e-05	1.726e-05	3.789e-05	1.316e-05	1.971e-05	1.286e-05	1.348e-05	6.563e-05	2.19e-06	8.2e-07	.	.	0	0	6.563e-05	0	0	0	0	1.471e-05	0	0	0.162	0.23541	T	0.485	0.11725	T	0.055	0.22733	B	0.007	0.12992	B	.	.	.	.	0.999977	0.18612	N	.	.	.	2.42	0.15376	T	-0.1	0.08495	N	0.04	0.01347	-0.9474	0.41414	T	0.010	0.03492	T	9	0.0016048849	0.00019	T	.	.	.	0.036	0.09122	.	.	.	.	0.007547077727271438	0.00720	.	.	0.508793115616	0.40052	T	0.002443	0.01836	T	-0.329346	0.06161	T	-0.710859	0.05250	T	0.00527709899755481	0.00057	T	0.480052	0.14488	T	0.032344773	0.03241	0.03586384	0.02919	0.032344773	0.03241	0.03586384	0.02918	-4.415	0.29759	T	.	.	0.069	0.03231	B	.	.	0.983069	0.13607	10.14	0.66913885358475289	0.08199	0.01513	0.05000	N	AEFI	0.023495	0.01318	N	-1.4910599935179	0.01913	0.08394092	-1.36789013472358	0.03599	0.1682304	1.02737162787131E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.634	0.16889	0.827000	0.27075	-0.579000	0.08386	-0.398000	0.05312	0.991000	0.37257	0.000000	0.08366	0.005000	0.06747	0.0:0.1617:0.0:0.8383	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	27722.43	155	chr2	95859975	.	C	T	27722.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.800e-02;DP=3242;ExcessHet=43.6797;FS=2.825;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.97;MQRankSum=-9.484e+00;QD=8.72;ReadPosRankSum=-1.190e-01;SOR=0.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,45:153:99:0|1:95859969_A_AT:1565,0,4297:95859969	1	0	20	0
chr2	95859988	95859988	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4867G:p.R1623G,	.	.	946	377	143	56	0	255	0.252725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.618	P	0.296	B	.	.	1.000	P	0.345	N	2.35	T	-1.040	T	0.022	T	0.211	-0.948	0.346	1.85	1.110	0.027	3.593	0.031	.	.	.	0.3985	0.4181	0.4615	0.4624	0.2601	0.3839	0.3829	0.4293	0.0005763	15	26028	rs78585559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.037	0.51737	D	0.618	0.39878	P	0.296	0.40883	B	.	.	.	.	1	0.08975	P	.	.	.	2.35	0.16217	T	-2.17	0.49018	N	0.036	0.01068	-1.0403	0.17223	T	0.022	0.09284	T	8	0.0021658242	0.00031	T	.	.	.	0.031	0.07369	.	.	.	.	0.01648333609809802	0.01603	.	.	0.464800566435	0.33968	T	0.014368	0.12243	T	-0.283116	0.10340	T	-0.644453	0.09348	T	0.0103390599998185	0.00141	T	0.690331	0.29972	T	0.11867667	0.27957	0.10622412	0.25550	0.11867667	0.27957	0.10622412	0.25549	-4.221	0.27055	T	.	.	0.167	0.36712	B	.	.	1.395340	0.18086	13.54	0.66348352263891242	0.08032	0.01091	0.04015	N	AEFI	0.037962	0.05300	N	-0.829849498643622	0.12552	0.6125249	-0.95288899799542	0.10856	0.5494909	1.69149918813486E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	-0.401000	0.07293	-0.372000	0.09600	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2013:0.0:0.7987	3.593	0.07545	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	24477.43	159	chr2	95859988	.	T	C	24477.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.265;DP=3203;ExcessHet=43.6797;FS=2.880;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.88;MQRankSum=-9.614e+00;QD=7.83;ReadPosRankSum=-7.870e-01;SOR=0.923	GT:AD:DP:GQ:PL	0/1:99,42:141:99:1447,0,2590	1	0	20	0
chr2	95860002	95860002	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4853T:p.H1618L,	.	.	945	422	104	51	0	206	0.19619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.898	P	0.775	P	.	.	1.000	P	1.965	M	2.2	T	-0.998	T	0.066	T	0.49	0.033	4.184	-0.873	-0.207	1.019	2.065	0.098	.	.	.	0.2918	0.3574	0.4353	0.4062	0.1258	0.3207	0.2719	0.2565	0.0003842	10	26028	rs76379993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.73	0.05165	T	0.898	0.49442	P	0.775	0.57058	P	.	.	.	.	1	0.08975	P	.	.	.	2.2	0.18570	T	-7.35	0.94620	D	0.157	0.16308	-0.9983	0.30395	T	0.066	0.27087	T	8	0.0024163425	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.011885642134936694	0.01148	.	.	0.603820681572	0.53443	T	0.17093	0.51885	T	-0.130986	0.31337	T	-0.425929	0.30399	T	0.0896707485037565	0.11179	T	0.667933	0.27701	T	0.5114563	0.67764	0.4059057	0.64978	0.5114563	0.67765	0.4059057	0.64978	-5.063	0.37516	T	.	.	0.223	0.45409	B	.	.	1.545032	0.19810	14.45	0.68803435199818186	0.08772	0.02181	0.06385	N	AEFI	0.047683	0.08056	N	-0.541266882709805	0.20758	1.096673	-0.816850501380551	0.14087	0.7342697	9.81280304122205E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.873	0.10096	1.014000	0.29553	0.760000	0.21307	0.443000	0.21123	0.026000	0.20160	0.002000	0.18203	0.026000	0.12556	0.2602:0.3442:0.0:0.3955	2.065	0.03383	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	17994.43	154	chr2	95860002	.	T	A	17994.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.989;DP=3061;ExcessHet=43.6797;FS=3.053;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.84;MQRankSum=-9.029e+00;QD=6.03;ReadPosRankSum=-1.082e+00;SOR=0.963	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:111,26:137:99:.:.:333,0,4291	1	0	20	0
chr2	95860007	95860007	A	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.T4848A:p.D1616E,	.	.	965	351	153	53	0	259	0.269511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.886	P	0.685	P	.	.	1.000	P	1.1	L	2.36	T	-1.031	T	0.037	T	0.093	0.511	6.772	0.608	0.161	0.077	4.768	0.058	.	.	.	0.3716	0.3968	0.4638	0.4468	0.1996	0.3624	0.3348	0.3997	0.000461	12	26028	rs77658288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.887	0.03161	T	0.886	0.48745	P	0.685	0.53610	P	.	.	.	.	1	0.08975	P	.	.	.	2.36	0.16089	T	0.87	0.01688	N	0.018	0.00252	-1.0311	0.20099	T	0.037	0.16116	T	8	0.0017204583	0.00022	T	.	.	.	0.058	0.16647	0.102	0.01589	.	.	0.0016336715894167176	0.00151	.	.	0.627778291702	0.56830	T	0.00182	0.01242	T	-0.339353	0.05432	T	-0.725233	0.04547	T	0.0127801602154166	0.00217	T	0.50325	0.15827	T	0.05346143	0.10121	0.066788726	0.13731	0.05346143	0.10121	0.066788726	0.13730	-4.052	0.24579	T	.	.	0.276	0.50970	B	.	.	0.679021	0.10477	7.192	0.92075444711269228	0.21422	0.00300	0.01598	N	AEFI	0.017840	0.00496	N	-0.631580650889932	0.18000	0.9310604	-0.811362641984672	0.14221	0.7419123	9.14715249298931E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.608	0.16746	-0.101000	0.10943	-4.154000	0.02312	0.333000	0.19617	0.036000	0.20778	0.000000	0.08366	0.028000	0.12845	0.5619:0.0:0.0:0.4381	4.768	0.12514	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	21658.43	153	chr2	95860007	.	A	T	21658.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.16;DP=2998;ExcessHet=43.6797;FS=3.057;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.82;MQRankSum=-8.906e+00;QD=7.38;ReadPosRankSum=-1.059e+00;SOR=1.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:97,35:132:99:.:.:1179,0,2530	1	0	20	0
chr2	95860020	95860020	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4835T:p.T1612I,	.	.	975	346	149	52	0	253	0.267725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.0	B	0.0	B	.	.	1.000	P	-1.385	N	2.38	T	-0.937	T	0.010	T	0.175	-3.138	0.001	0.635	0.138	3.039	5.605	0.071	.	.	.	0.3429	0.4093	0.4357	0.4212	0.1584	0.3445	0.2982	0.3516	0.0003842	10	26028	rs78780931	7.168e-07	5.473e-06	1.415e-06	0	9.285e-07	0	0	.	.	0	0	0	0	0	0	9.285e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999979	0.18612	P	.	.	.	2.38	0.15843	T	3.02	0.00138	N	0.054	0.02559	-0.9370	0.43088	T	0.010	0.03627	T	8	0.0017494261	0.00022	T	.	.	.	0.071	0.20720	.	.	.	.	0.0033875092255602627	0.00316	.	.	0.597990691662	0.52621	T	2.31E-4	0.00048	T	-0.282657	0.10387	T	-0.643793	0.09394	T	0.00465201252591891	0.00050	T	0.257674	0.04066	T	0.036191136	0.04406	0.044979855	0.05950	0.036191136	0.04405	0.044979855	0.05949	-0.577	0.00632	T	.	.	0.124	0.26042	B	.	.	0.379084	0.07510	4.156	0.096937678722497284	0.00105	0.00352	0.01813	N	AEFI	0.013252	0.00170	N	-1.41969246255212	0.02466	0.1089284	-1.29164163050699	0.04543	0.2145151	1.02751695127801E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.635	0.16895	2.080000	0.41211	-0.435000	0.09196	-1.105000	0.01501	0.995000	0.38783	0.000000	0.08366	0.000000	0.00833	0.8383:0.0:0.1617:0.0	5.605	0.16657	256	0.89942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	18382.43	145	chr2	95860020	.	G	A	18382.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.556;DP=2780;ExcessHet=43.6797;FS=4.214;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.76;MQRankSum=-8.652e+00;QD=6.86;ReadPosRankSum=-1.267e+00;SOR=1.096	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,30:128:99:0|1:95860020_G_A:965,0,3963:95860020	1	0	20	0
chr2	95860023	95860023	A	C	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.T4832G:p.L1611X,	.	.	975	348	147	52	0	251	0.265048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	.	.	.	.	.	.	0.000	P	.	.	.	.	.	.	.	.	.	15.302	49	-0.698	-0.207	0.666	5.748	.	.	.	.	0.3459	0.4102	0.4378	0.4239	0.1587	0.3478	0.2957	0.3558	0.0004226	11	26028	rs74941794	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.64576e-15	0.58761	P	.	.	.	.	.	.	.	.	.	0.039	0.01274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464733	0.93127	D	0.429781	0.93041	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.440231	0.90928	32	0.96148246009950666	0.28859	0.36954	0.25651	N	AEFI	0.088588	0.17958	N	-0.131946649004641	0.36007	2.075519	-0.471627380579264	0.22940	1.248476	9.52799824835323E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.698	0.10713	0.445000	0.21392	-0.434000	0.09203	-1.250000	0.01303	0.993000	0.37899	0.000000	0.08366	0.002000	0.04165	0.6458:0.0:0.3542:0.0	5.748	0.17400	256	0.89942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	17446.43	144	chr2	95860023	.	A	C	17446.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.97;DP=2699;ExcessHet=43.6797;FS=5.438;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.71;MQRankSum=-8.809e+00;QD=6.58;ReadPosRankSum=-1.356e+00;SOR=1.196	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,30:128:99:0|1:95860020_G_A:965,0,3963:95860020	1	0	20	0
chr2	95860046	95860046	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4809T:p.K1603N,	.	.	996	348	132	46	0	224	0.243478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.0	B	.	.	1.000	P	-1.59	N	2.33	T	-0.964	T	0.008	T	0.055	-3.899	0.001	-2.51	-0.641	0.852	0.839	0.027	.	.	.	0.2995	0.4068	0.4155	0.3993	0.0859	0.3214	0.2411	0.2818	0.0869064	2262	26028	rs79908880	2.159e-06	4.789e-06	1.421e-06	2.916e-06	3.19e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	3.19e-05	0	0	0	0	0	1.863e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.767	0.03412	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	.	.	.	2.33	0.16492	T	1.87	0.00472	N	0.043	0.01577	-0.9644	0.38330	T	0.008	0.02842	T	8	0.0017981231	0.00024	T	.	.	.	0.027	0.05988	0.388	0.40951	.	.	0.009782736317217211	0.00940	.	.	0.538346886635	0.44213	T	0.002324	0.01720	T	-0.380822	0.03079	T	-0.784801	0.02311	T	0.00124196999210505	0.00012	T	0.263374	0.04265	T	0.04313465	0.06669	0.036235157	0.03030	0.04313465	0.06669	0.036235157	0.03030	-0.766	0.00774	T	.	.	0.068	0.02639	B	.	.	-0.084979	0.03731	0.770	0.10447506845337422	0.00132	0.00336	0.01748	N	AEFI	0.012014	0.00120	N	-2.28437407882715	0.00049	0.002118662	-2.21407410585182	0.00104	0.004576006	2.08611004689468E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	-2.51	0.05996	1.202000	0.31878	0.062000	0.14145	-1.184000	0.01383	0.735000	0.28974	0.000000	0.08366	0.000000	0.00833	0.4851:0.195:0.1314:0.1885	0.839	0.01073	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	11608.43	114	chr2	95860046	.	C	A	11608.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.094;DP=2166;ExcessHet=43.6797;FS=7.428;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.39;MQRankSum=-9.225e+00;QD=5.60;ReadPosRankSum=-1.053e+00;SOR=1.366	GT:AD:DP:GQ:PL	0/1:69,20:89:99:633,0,2004	1	0	20	0
chr2	95891674	95891674	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon67:c.A3943T:p.T1315S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	.	.	.	.	.	.	1.000	N	.	.	-0.93	T	-1.026	T	0.121	T	0.027	-3.358	0.001	-1.14	-1.678	-0.203	.	0.098	0.00291427588903	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1260919298	2.841e-06	0.0002	1.405e-06	4.309e-06	.	6.7e-07	4.5e-07	.	.	0	0	0	0	8.162e-05	0	0	0	0	6.687e-06	0.0024	0	1.371e-05	1.486e-05	0	0	.	.	0	0	0	0	0	0	0	1.486e-05	0	0	0.492	0.07944	T	0.292	0.20877	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.93	0.75215	T	-0.29	0.11728	N	0.043	0.02861	-1.0260	0.21756	T	0.121	0.42208	T	5	0.04610786	0.03760	T	0.002914	0.06162	T	0.098	0.28162	0.139	0.04277	0.18995819373	0.18626	3.2899001332843344E-4	0.00029	.	.	.	.	.	0.001442	0.00900	T	-0.278035	0.10877	T	-0.637155	0.09879	T	0.0239688079694826	0.01142	T	0.163384	0.02201	T	0.05901639	0.11943	0.0651601	0.13168	0.05901639	0.11943	0.0651601	0.13167	-2.145	0.24445	T	.	.	0.143	0.31355	B	.;.	.;.	-1.129647	0.00606	0.016	0.031514088493064071	0.00000	0.00007	0.00120	N	AEFBI	0.015590	0.00305	N	-1.46910891231834	0.02071	0.09107147	-1.69214697447218	0.01172	0.05275655	6.86907755470711E-5	0.04366	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.550183	0.17644	0	.	.	0.569	-1.14	0.09241	-0.118000	0.10665	-0.182000	0.11122	-0.854000	0.02687	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	250	0.90192	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	53.11	34	chr2	95891674	.	T	A	53.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.521;DP=972;ExcessHet=0.1072;FS=6.096;InbreedingCoeff=-0.0502;MLEAC=2;MLEAF=0.048;MQ=58.57;MQRankSum=-8.778e+00;QD=0.33;ReadPosRankSum=-1.944e+00;SOR=1.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1530	19	0	2	0
chr2	95897318	95897318	G	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon61:c.C3598G:p.L1200V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	.	.	2.22	T	-1.001	T	0.122	T	0.245	-3.910	0.001	-1.07	-1.716	-1.163	.	0.050	.	.	.	0.0002	0.0024	0	0	0	0	0	0	3.84e-05	1	26028	rs768944621	7.882e-05	8.904e-05	8.504e-05	7.246e-05	0.0009	6.685e-05	6.22e-05	0.0007	0.0006	0.0009	0.0002	0	0.0002	2.023e-05	0	3.821e-05	0.0002	0.0002	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	0.0001	0	0.0006	0	0	0.0001	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1502.98	34	chr2	95897318	.	G	C	1502.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.941e+00;DP=801;ExcessHet=0.0000;FS=1.576;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=46.35;MQRankSum=-3.323e+00;QD=12.96;ReadPosRankSum=-2.980e-01;SOR=0.914	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1378	20	0	1	0
chr2	95927222	95927222	-	AT	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon28:c.1930_1931insAT:p.S644Yfs*24,	.	.	585	748	183	6	0	195	0.115316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs745741068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	19293.39	162	chr2	95927222	.	G	GAT	19293.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=2.91;DP=3244;ExcessHet=43.6797;FS=41.935;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=54.80;MQRankSum=-9.777e+00;QD=6.04;ReadPosRankSum=-5.428e+00;SOR=4.455	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,31:147:99:0|1:95927222_G_GAT:953,0,4778:95927222	1	0	20	0
chr2	95927227	95927228	TT	-	exonic	ANKRD36C	.	frameshift deletion	ANKRD36C:NM_001310154:exon28:c.1925_1926del:p.Q642Pfs*18,	.	.	630	694	193	5	0	203	0.127593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs772059065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	28849.39	181	chr2	95927226	.	GTT	G	28849.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=3.24;DP=3663;ExcessHet=43.6797;FS=12.728;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=54.66;MQRankSum=-1.068e+01;QD=7.97;ReadPosRankSum=-5.292e+00;SOR=1.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,41:170:99:0|1:95927222_G_GAT:1333,0,5293:95927222	1	0	20	0
chr2	95927234	95927234	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.A1919G:p.E640G,	.	.	638	673	206	5	0	216	0.138284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	.	.	1.000	N	2.045	M	-1.11	T	-0.526	T	0.427	T	0.17	0.495	6.683	0.578	0.482	1.675	.	0.149	0.00618498349042	.	.	0.0012	0.0016	0.0011	0.0019	0.0005	0.0013	0	0.0007	3.84e-05	1	26028	rs758839836	6.856e-07	6.84e-07	1.364e-06	0	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.11	0.77466	T	-0.39	0.13611	N	0.176	0.18920	-0.5261	0.67688	T	0.427	0.77022	T	6	0.03557104	0.01812	T	0.006185	0.16200	T	0.149	0.39377	.	.	0.42989457901	0.42608	0.007308549639332476	0.00696	.	.	.	.	.	0.003258	0.02667	T	-0.0875605	0.38480	T	-0.363551	0.37640	T	0.0366356248361039	0.03091	T	0.168983	0.05631	T	0.062684655	0.13118	0.16541363	0.38267	0.062684655	0.13117	0.16541363	0.38267	-4.184	0.26519	T	.	.	0.130	0.27998	B	.;.	.;.	2.279132	0.29141	18.03	0.9497533031407277	0.25908	0.01715	0.05438	N	AEFBI	0.033788	0.04074	N	-0.603271583609637	0.18846	0.9816864	-0.856632057968517	0.13128	0.6793434	1.06943366512053E-5	0.01202	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	1.624000	0.36629	-0.363000	0.09661	0.319000	0.19345	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	39187.43	200	chr2	95927234	.	T	C	39187.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.176e+00;DP=4058;ExcessHet=43.6797;FS=7.313;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=54.37;MQRankSum=-1.145e+01;QD=9.76;ReadPosRankSum=-5.766e+00;SOR=1.238	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,58:194:99:0|1:95927222_G_GAT:2026,0,5536:95927222	1	0	20	0
chr2	95927252	95927252	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.T1901C:p.I634T,	.	.	674	623	216	9	0	234	0.158108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	.	.	.	.	.	.	1.000	N	2.175	M	-1.08	T	-0.803	T	0.326	T	0.253	0.721	7.838	-1.16	-0.580	0.588	.	0.194	.	.	.	0.0825	0.1113	0.0839	0.1182	0.1114	0.0793	0.0608	0.0544	3.84e-05	1	26028	rs111976783	2.057e-06	2.052e-06	2.729e-06	1.378e-06	6.728e-05	5.5e-07	1.5e-07	1.784e-05	8.95e-06	0	6.728e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	-0.99	0.26200	N	0.069	0.17278	-0.8026	0.54991	T	0.326	0.69410	T	6	0.0039491355	0.00076	T	.	.	.	0.194	0.47447	.	.	.	.	0.0049901546743311475	0.00471	.	.	.	.	.	0.003965	0.03373	T	-0.0895306	0.38154	T	-0.366381	0.37311	T	0.00782888568937778	0.00092	T	0.441356	0.12522	T	0.056561366	0.11145	0.12979923	0.31201	0.056561366	0.11144	0.12979923	0.31200	-5.925	0.50163	T	.	.	0.180	0.48715	B	.;.	.;.	1.251398	0.16483	12.57	0.92565402419728915	0.22018	0.00377	0.01912	N	AEFBI	0.031745	0.03455	N	-0.892394221719867	0.11022	0.5297326	-1.14952198102138	0.06776	0.3273419	1.22801436175958E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	-1.16	0.09181	0.550000	0.23052	-1.428000	0.05463	0.359000	0.20063	0.011000	0.18532	0.000000	0.08366	0.036000	0.13842	.	.	.	253	0.90069	.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	71909.43	290	chr2	95927252	.	A	G	71909.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-5.880e-01;DP=5309;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=53.50;MQRankSum=-1.377e+01;QD=13.66;ReadPosRankSum=-5.061e+00;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,107:272:99:0|1:95927222_G_GAT:3996,0,6606:95927222	1	0	20	0
chr2	95927268	95927268	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1885T:p.D629Y,	.	.	676	613	224	9	0	242	0.16485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	N	2.175	M	-1.1	T	-0.487	T	0.446	T	0.443	1.148	9.675	0.578	0.573	0.559	.	0.333	.	.	.	0.0990	0.1443	0.0896	0.1297	0.1231	0.0957	0.0823	0.0698	0.0779227	12047	154602	rs79307257	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.596e-06	6.571e-06	0	1.351e-05	1.477e-05	0	0	.	.	0	0	0	0	0	0	0	1.477e-05	0	0	0.001	0.78490	D	0.026	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.1	0.77336	T	-1.9	0.44284	N	0.173	0.51315	-0.4874	0.69100	T	0.446	0.78240	T	6	0.0048143566	0.00102	T	.	.	.	0.333	0.65522	.	.	.	.	0.012629181598714094	0.01221	.	.	.	.	.	0.007056	0.06479	T	-0.00641558	0.50765	T	-0.246992	0.50114	T	0.852545201778412	0.50387	D	0.59994	0.27277	T	0.11685397	0.27556	0.18900135	0.42222	0.11685397	0.27555	0.18900135	0.42221	-8.156	0.62848	D	.	.	0.178	0.50389	B	.;.	.;.	2.735108	0.35810	20.0	0.94629422228171811	0.25216	0.01477	0.04919	N	AEFBI	0.029319	0.02744	N	-0.591855003156469	0.19190	1.00245	-0.847697327138236	0.13343	0.6916549	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.534000	0.22807	0.568000	0.19578	0.291000	0.18778	0.021000	0.19753	0.000000	0.08366	0.005000	0.06747	.	.	.	253	0.90069	.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	99348.43	354	chr2	95927268	.	C	A	99348.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-5.669e+00;DP=6340;ExcessHet=43.6797;FS=3.258;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=52.67;MQRankSum=-1.545e+01;QD=15.78;ReadPosRankSum=-3.350e+00;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:180,162:342:99:0|1:95927222_G_GAT:6128,0,7030:95927222	1	0	20	0
chr2	95927277	95927277	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1876A:p.D626N,	.	.	672	616	225	9	0	243	0.164746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	.	.	1.000	P	2.135	M	-1.07	T	-0.030	T	0.463	T	0.042	2.046	12.80	0.578	0.573	1.620	.	0.172	.	.	.	0.0982	0.1425	0.0884	0.1290	0.1219	0.0951	0.0815	0.0693	0.0779679	12054	154602	rs75189823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.07	0.76948	T	-0.32	0.12283	N	0.045	0.10626	-0.0304	0.81622	T	0.463	0.79190	T	5	0.0036658943	0.00067	T	.	.	.	0.172	0.43662	.	.	.	.	0.0029834670744068	0.00278	.	.	.	.	.	0.001745	0.01167	T	-0.214699	0.18721	T	-0.546177	0.17695	T	0.0182863330978625	0.00547	T	0.726827	0.34112	T	0.056939475	0.11268	0.071558535	0.15336	0.056939475	0.11268	0.071558535	0.15336	-7.104	0.55237	T	.	.	0.131	0.35560	B	.;.	.;.	2.171628	0.27671	17.54	0.99663125085786775	0.78074	0.02072	0.06171	N	AEFBI	0.036161	0.04774	N	-0.595262529696858	0.19088	0.996275	-0.85090525598683	0.13266	0.6872205	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.528000	0.22711	-1.180000	0.06099	0.291000	0.18778	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	100976.43	370	chr2	95927277	.	C	T	100976.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-6.195e+00;DP=6692;ExcessHet=43.6797;FS=2.488;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=52.63;MQRankSum=-1.581e+01;QD=15.46;ReadPosRankSum=-7.660e-01;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:191,169:360:99:0|1:95927222_G_GAT:6268,0,7269:95927222	1	0	20	0
chr2	95929092	95929092	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.A1817G:p.E606G,	.	.	442	885	194	1	0	196	0.0996948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	P	.	.	-1.41	T	-0.324	T	0.401	T	0.195	1.779	11.91	0.871	0.621	1.851	3.983	0.197	.	.	.	0.0459	0.0589	0.0223	0.0330	0.0459	0.0434	0.0437	0.0722	0.0179806	468	26028	rs76434426	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.12	0.48855	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.41	0.80560	T	-0.78	0.21644	N	0.056	0.10626	-0.3240	0.74310	T	0.401	0.75223	T	5	0.0049548745	0.00106	T	.	.	.	0.197	0.47942	.	.	.	.	0.0054717690626164255	0.00517	.	.	.	.	.	0.005311	0.04761	T	-0.0584766	0.43144	T	-0.321774	0.42379	T	0.00563426744630397	0.00061	T	0.377662	0.09460	T	0.056738406	0.11204	0.0661094	0.13496	0.056738406	0.11203	0.0661094	0.13496	-3.88	0.22002	T	.	.	0.122	0.31279	B	.;.	.;.	2.425270	0.31191	18.67	0.9961510765788425	0.75052	0.01924	0.05874	N	AEFI	0.033909	0.04109	N	-0.600821869982756	0.18921	0.9861679	-0.827596025984616	0.13828	0.7194133	1.26041081260552E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	1.761000	0.38070	0.132000	0.15059	0.312000	0.19173	0.010000	0.18352	0.001000	0.17328	0.012000	0.09680	0.0:0.0:0.0:1.0	3.983	0.08994	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4762	41574.43	202	chr2	95929092	.	T	C	41574.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.846;DP=3927;ExcessHet=43.6797;FS=3.785;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=47.18;MQRankSum=-9.680e+00;QD=10.76;ReadPosRankSum=-3.033e+00;SOR=1.064	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,69:198:99:0|1:95929092_T_C:2387,0,5123:95929092	1	0	20	0
chr2	95929110	95929110	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.T1799C:p.I600T,	.	.	444	879	199	0	0	199	0.101686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	.	.	1.000	N	.	.	-1.17	T	-0.746	T	0.297	T	0.219	0.645	7.463	-0.637	-0.224	0.734	2.815	0.230	.	.	.	0.0502	0.0563	0.0250	0.0339	0.0515	0.0474	0.0455	0.0855	0.0009221	24	26028	rs80159651	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.17	0.78199	T	-0.21	0.10308	N	0.064	0.13911	-0.7459	0.58149	T	0.297	0.66886	T	6	0.0053180456	0.00117	T	.	.	.	0.230	0.53062	.	.	.	.	0.00358464158390252	0.00335	.	.	.	.	.	5.76E-4	0.00232	T	-0.102964	0.35934	T	-0.385677	0.35058	T	0.00148509498065692	0.00015	T	0.430857	0.15541	T	0.03336381	0.03541	0.041758195	0.04819	0.03336381	0.03540	0.041758195	0.04819	-5.849	0.49914	T	.	.	0.141	0.47448	B	.;.	.;.	1.598186	0.20432	14.75	0.94716897870735495	0.25385	0.00401	0.02002	N	AEFI	0.028900	0.02629	N	-0.753193177697584	0.14546	0.7255317	-1.00196959350196	0.09742	0.4864572	9.46784315172941E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.637	0.10926	0.215000	0.17352	-1.249000	0.05911	0.351000	0.19951	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.4587:0.0:0.0:0.5413	2.815	0.05119	253	0.90069	.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	51819.43	236	chr2	95929110	.	A	G	51819.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=9.99;DP=4508;ExcessHet=43.6797;FS=8.254;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=45.41;MQRankSum=-9.797e+00;QD=11.60;ReadPosRankSum=-2.111e+00;SOR=1.293	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,80:221:99:0|1:95929092_T_C:2935,0,5659:95929092	1	0	20	0
chr2	95929126	95929126	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1783T:p.D595Y,	.	.	442	865	215	0	0	215	0.11054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	.	.	1.000	N	.	.	-0.96	T	-0.705	T	0.302	T	0.375	1.013	9.136	0.871	0.742	0.666	5.051	0.242	.	.	.	0.0287	0.0327	0.0149	0.0205	0.0260	0.0277	0.0293	0.0461	0.0009221	24	26028	rs79434735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.96	0.75553	T	-1.05	0.27463	N	0.094	0.37717	-0.7052	0.60188	T	0.302	0.67344	T	6	0.007255286	0.00165	T	.	.	.	0.242	0.54781	.	.	.	.	0.01955586045237903	0.01909	.	.	.	.	.	0.003986	0.03393	T	-0.0187037	0.49039	T	-0.264643	0.48358	T	0.00831936897839858	0.00100	T	0.876612	0.58915	D	0.08026257	0.18380	0.06422837	0.12840	0.08026257	0.18380	0.06422837	0.12840	-7.935	0.60626	D	.	.	0.193	0.50147	B	.;.	.;.	1.372804	0.17831	13.39	0.93504610952685097	0.23313	0.02178	0.06379	N	AEFI	0.025243	0.01698	N	-0.59865468081622	0.18985	0.9901359	-0.821302082525131	0.13979	0.7281023	1.38702267383256E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	-0.066000	0.11556	0.673000	0.20610	0.284000	0.18682	0.001000	0.13787	0.001000	0.17328	0.010000	0.09038	0.0:1.0:0.0:0.0	5.051	0.13847	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4762	67411.43	272	chr2	95929126	.	C	A	67411.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=3.03;DP=5235;ExcessHet=43.6797;FS=15.425;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=44.20;MQRankSum=-1.062e+01;QD=12.98;ReadPosRankSum=-1.058e+00;SOR=1.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,115:272:99:0|1:95929092_T_C:4356,0,6246:95929092	1	0	20	0
chr2	95929130	95929130	G	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.C1779G:p.D593E,	.	.	442	863	217	0	0	217	0.111683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	.	.	-0.99	T	-0.983	T	0.120	T	0.057	0.583	7.149	-0.054	-0.059	0.169	4.774	0.082	.	.	.	0.0281	0.0314	0.0152	0.0199	0.0259	0.0271	0.0289	0.0443	0.0009221	24	26028	rs375866621	5.512e-06	6.156e-06	6.857e-06	4.153e-06	7.204e-06	2.37e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.204e-06	0	0	6.603e-06	6.573e-06	1.29e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	1.0	0.00964	T	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.99	0.75911	T	-0.17	0.09627	N	0.012	0.01274	-0.9830	0.34305	T	0.120	0.41886	T	6	0.0062747	0.00142	T	.	.	.	0.082	0.23913	0.088	0.00943	.	.	0.0012585486106362017	0.00115	.	.	.	.	.	6.61E-4	0.00291	T	-0.22299	0.17588	T	-0.558086	0.16556	T	0.0056942431256175	0.00062	T	0.361264	0.08382	T	0.030476715	0.02717	0.028199261	0.01033	0.030476715	0.02717	0.028199261	0.01033	1.103	0.00153	T	.	.	0.184	0.39898	B	.;.	.;.	-0.102250	0.03628	0.719	0.82362292130898662	0.14152	0.00009	0.00143	N	AEFI	0.011962	0.00118	N	-1.12759496650573	0.06156	0.2826552	-1.32800364383948	0.04072	0.1913117	8.82048009805059E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0539	0.13146	0.175000	0.16577	-0.796000	0.07394	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5966:0.4034:0.0	4.774	0.12542	253	0.90069	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	71752.43	282	chr2	95929130	.	G	C	71752.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=5.49;DP=5406;ExcessHet=43.6797;FS=17.088;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=43.89;MQRankSum=-1.053e+01;QD=13.38;ReadPosRankSum=-8.420e-01;SOR=1.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,124:285:99:0|1:95929092_T_C:4722,0,6387:95929092	1	0	20	0
chr2	95929135	95929135	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1774A:p.D592N,	.	.	440	860	222	0	0	222	0.114315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	.	.	.	.	.	.	1.000	N	.	.	-1.0	T	-0.975	T	0.178	T	0.032	1.786	11.93	-0.087	-0.070	0.689	3.151	0.061	.	.	.	0.0258	0.0286	0.0139	0.0184	0.0245	0.0251	0.0266	0.0399	0.0009221	24	26028	rs111462973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.31	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.0	0.76037	T	-0.29	0.11728	N	0.04	0.12341	-0.9745	0.36235	T	0.178	0.52334	T	6	0.0032269955	0.00055	T	.	.	.	0.061	0.17616	.	.	.	.	0.004280505726367948	0.00402	.	.	.	.	.	0.002625	0.02014	T	-0.209791	0.19408	T	-0.539127	0.18382	T	0.0104211887073546	0.00143	T	0.69513	0.30474	T	0.054424945	0.10441	0.04548125	0.06130	0.054424945	0.10440	0.04548125	0.06129	-6.736	0.52081	T	.	.	0.134	0.35352	B	.;.	.;.	2.140902	0.27259	17.40	0.99632098778018607	0.76081	0.00615	0.02724	N	AEFI	0.027355	0.02221	N	-0.807133128301253	0.13128	0.6445496	-1.03707422889346	0.08978	0.4441984	8.83579175512005E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0868	0.13014	0.656000	0.24632	0.771000	0.21396	0.284000	0.18682	0.006000	0.17386	0.005000	0.19230	0.009000	0.08673	0.0:0.6672:0.0:0.3328	3.151	0.06100	253	0.90069	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	75077.43	291	chr2	95929135	.	C	T	75077.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=6.83;DP=5658;ExcessHet=43.6797;FS=16.868;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=43.43;MQRankSum=-1.046e+01;QD=13.67;ReadPosRankSum=-5.410e-01;SOR=1.771	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,130:292:99:0|1:95929092_T_C:4944,0,6384:95929092	1	0	20	0
chr2	95935472	95935472	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon24:c.T1717C:p.S573P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	.	.	.	.	.	.	1.000	N	.	.	-1.12	T	-0.904	T	0.225	T	0.201	0.441	6.396	-1.93	-0.633	-3.146	1.787	0.177	0.00527153839806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.12	0.77593	T	-1.12	0.28906	N	0.175	0.18784	-0.9044	0.47515	T	0.225	0.58957	T	6	0.090824604	0.15857	T	0.005272	0.13464	T	0.177	0.44549	0.26	0.20315	0.303453137403	0.29957	0.0025964046087465953	0.00241	.	.	.	.	.	0.008067	0.07427	T	-0.141922	0.29583	T	-0.441637	0.28624	T	0.039472528729692	0.03595	T	0.268373	0.04464	T	0.13172004	0.30693	0.07496957	0.16457	0.13172004	0.30693	0.07496957	0.16457	-4.435	0.30028	T	.	.	0.196	0.48156	B	.;.	.;.	0.902052	0.12763	9.279	0.84518185438774429	0.15338	0.00147	0.00892	N	AEFGI	0.051239	0.09033	N	-0.976929361326503	0.09098	0.4292066	-1.22904852238101	0.05448	0.2596297	7.79519956303825E-5	0.04552	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	0.967	-1.93	0.07180	-2.368000	0.01156	-4.076000	0.02356	0.358000	0.20042	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.3254:0.4164:0.0:0.2581	1.787	0.02859	253	0.90069	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	40.98	93	chr2	95935472	.	A	G	40.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.233e+00;DP=871;ExcessHet=0.0000;FS=40.628;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=40.51;MQRankSum=-8.880e-01;QD=0.60;ReadPosRankSum=1.08;SOR=5.387	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1299	20	0	1	0
chr2	95935476	95935476	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon24:c.G1713C:p.K571N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	.	.	1.000	N	.	.	-1.14	T	-0.647	T	0.345	T	0.068	0.870	8.526	0.967	0.824	0.817	5.254	0.135	0.0083674401014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.082	0.45110	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.14	0.78082	T	-0.86	0.23372	N	0.107	0.11054	-0.6469	0.62848	T	0.345	0.70980	T	6	0.11460441	0.21567	T	0.008367	0.22156	T	0.135	0.36572	0.228	0.15406	0.345175991111	0.34120	0.005614326811380592	0.00531	.	.	.	.	.	0.00465	0.04060	T	-0.155069	0.27523	T	-0.460523	0.26542	T	0.0812367503032391	0.10144	T	0.350665	0.07816	T	0.11469298	0.27075	0.0896353	0.20972	0.11469298	0.27074	0.0896353	0.20971	-5.103	0.37939	T	.	.	0.482	0.65656	A	.;.	.;.	2.227110	0.28424	17.79	0.97922211699768646	0.36893	0.01157	0.04176	N	AEFGI	0.032006	0.03534	N	-0.615391303957462	0.18482	0.9598562	-0.831756511074597	0.13727	0.7136663	6.3933392879342E-5	0.04366	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	0.967	0.967	0.18792	0.810000	0.26841	-0.343000	0.09801	0.290000	0.18761	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.0:1.0:0.0:0.0	5.254	0.14853	253	0.90069	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	40.98	79	chr2	95935476	.	C	G	40.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.084e+00;DP=1034;ExcessHet=0.0000;FS=22.967;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=40.21;MQRankSum=-8.880e-01;QD=0.60;ReadPosRankSum=0.983;SOR=4.504	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:60,0:60:99:.:.:0,120,1800	20	0	1	0
chr2	95935513	95935513	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon24:c.A1676G:p.E559G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	.	.	1.000	N	.	.	-1.01	T	-0.738	T	0.302	T	0.165	0.650	7.488	-0.475	-0.150	0.438	2.894	0.140	0.00585696595162	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1469992917	0	3.899e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.572e-06	0.0008	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.037	0.51737	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.01	0.76168	T	-1.23	0.31170	N	0.064	0.03613	-0.7380	0.58555	T	0.302	0.67270	T	6	0.08810061	0.15139	T	0.005857	0.15251	T	0.140	0.37593	0.09	0.01023	0.400756358115	0.39691	0.009955425089387095	0.00957	.	.	.	.	.	0.008014	0.07373	T	-0.101221	0.36222	T	-0.383173	0.35351	T	0.0671235467810128	0.08241	T	0.256474	0.04006	T	0.05429329	0.10395	0.05104347	0.08136	0.05429329	0.10395	0.05104347	0.08135	-4.443	0.30136	T	.	.	0.179	0.39081	B	.	.	2.409138	0.30961	18.60	0.97634589533471039	0.35040	0.00238	0.01325	N	AEFGI	0.027612	0.02287	N	-0.768067868878245	0.14148	0.7023926	-1.01064641307123	0.09551	0.4758001	3.88709385771713E-5	0.03775	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	0.967	-0.475	0.11501	0.413000	0.20869	-0.216000	0.10808	0.319000	0.19345	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.5785:0.0:0.0:0.4215	2.894	0.05335	253	0.90069	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	269.98	119	chr2	95935513	.	T	C	269.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.357e+00;DP=1864;ExcessHet=0.0000;FS=2.511;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=41.01;MQRankSum=-4.002e+00;QD=2.70;ReadPosRankSum=1.82;SOR=0.405	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:81,0:81:99:.:.:0,120,1800	20	0	1	0
chr2	95935514	95935514	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon24:c.G1675A:p.E559K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	.	.	.	.	.	.	1.000	N	.	.	-0.91	T	-0.960	T	0.183	T	0.128	-1.469	0.018	-1.17	-0.520	0.308	3.944	0.118	0.00397110332458	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338337164	0	4.036e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.572e-06	0.0008	1.287e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.358	0.11994	T	0.035	0.52389	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.91	0.75001	T	-0.77	0.21429	N	0.089	0.06720	-0.9604	0.39106	T	0.183	0.53179	T	6	0.07079291	0.10347	T	0.003971	0.09400	T	0.118	0.32913	0.146	0.04941	0.204665344411	0.20097	0.017772539031449545	0.01732	.	.	.	.	.	0.005847	0.05296	T	-0.178901	0.23900	T	-0.494755	0.22893	T	0.0322858666561489	0.02352	T	0.380262	0.09172	T	0.039784376	0.05556	0.040323198	0.04332	0.039784376	0.05556	0.040323198	0.04332	-3.942	0.22933	T	.	.	0.195	0.41557	B	.	.	0.404989	0.07760	4.445	0.26374342797202815	0.01260	0.00096	0.00628	N	AEFGI	0.020597	0.00829	N	-0.888716651160662	0.11110	0.5344097	-1.13048874623997	0.07123	0.3453139	5.37430573471838E-5	0.04171	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	0.967	-1.17	0.09152	-0.014000	0.12594	-2.601000	0.03561	0.290000	0.18761	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4722:0.0:0.5278	3.944	0.08838	253	0.90069	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	269.98	119	chr2	95935514	.	C	T	269.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.912e+00;DP=1865;ExcessHet=0.0000;FS=2.511;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=41.08;MQRankSum=-4.002e+00;QD=2.70;ReadPosRankSum=1.85;SOR=0.405	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:81,0:81:99:.:.:0,120,1800	20	0	1	0
chr2	96023428	96023428	G	A	exonic	GPAT2	.	nonsynonymous SNV	GPAT2:NM_001321529:exon17:c.C1714T:p.R572W	.	.	419	1077	26	0	0	26	0.0119266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.067	B	0.011	B	0.175	N	1.000	D	1.245	L	-0.13	T	-0.627	T	0.245	T	0.484	1.365	10.49	4.55	1.278	0.572	11.693	0.244	0.236313734747	0.0013	0.00219649	0.0023	0.0002	0.0005	0	0.0003	0.0027	0.0022	0.0053	0.0021151	327	154602	rs200494170	0.0025	0.0025	0.0023	0.0027	0.0068	0.0024	0.0024	0.0058	0.0056	0.0004	0.0004	0.0026	5.038e-05	0.0004	0.0068	0.0025	0.0026	0.0062	0.0019	0.0019	0.0019	0.0018	0.0066	0.0017	0.0016	0.0048	0.0042	0.0004	0	0.0009	0.0029	0	0.0003	0.0068	0.0030	0.0014	0.0066	0.025	0.49117	D	0.012	0.63918	D	0.038	0.23653	B	0.01	0.15521	B	0.175141	0.17260	N	0.598876	1	0.81001	D	2.14	0.59869	M	-1.13	0.77719	T	-2.13	0.48354	N	0.288	0.32591	-0.6271	0.63693	T	0.245	0.61331	T	10	0.0079962015	0.00181	T	0.236314	0.88494	D	0.244	0.55061	.	.	0.684805705286	0.68211	0.24416334672272652	0.24330	1.16178190297	0.79509	0.394804805517	0.24345	T	0.022516	0.17347	T	-0.315594	0.07264	T	-0.223909	0.52359	T	0.0303656412644803	0.02046	T	0.793221	0.43505	T	0.06585315	0.14113	0.09652142	0.22937	0.06585315	0.14112	0.09652142	0.22937	-4.513	0.31058	T	.	.	0.085	0.10400	B	.;.;.	.;.;.	1.234254	0.16293	12.45	0.9948997075661955	0.67403	0.73598	0.36000	D	AEFDGBI	0.398685	0.47427	N	-0.329723344391948	0.28025	1.542328	-0.23194115769066	0.30398	1.711248	0.487886500102385	0.20838	0.533608	0.22052	0	0.615948	0.52940	0	0.514364	0.09456	0	0.638833	0.57524	0	.	.	5.44	4.55	0.55429	0.950000	0.28720	0.803000	0.21677	-0.145000	0.12313	0.174000	0.23986	0.200000	0.23563	0.011000	0.09372	0.0:0.0:0.8237:0.1763	11.693	0.50789	292	0.88363	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1733.98	35	chr2	96023428	.	G	A	1733.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.702;DP=871;ExcessHet=0.0000;FS=1.435;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.65;ReadPosRankSum=-9.190e-01;SOR=0.842	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	20	0	1	0
chr2	96115824	96115824	T	C	exonic	ADRA2B	.	nonsynonymous SNV	ADRA2B:NM_000682:exon1:c.A326G:p.D109G,	Epilepsy, myoclonic, familial adult, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	1.000	D	3.92	H	-2.02	D	0.861	D	0.822	D	0.923	4.436	23.6	4.48	1.895	7.868	11.833	0.949	0.290049764217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	4.095	0.97289	H	.	.	.	.	.	.	0.946	0.95374	0.861	0.95163	D	0.822	0.94019	D	9	0.98468006	0.98677	D	0.29005	0.90532	D	.	.	0.933	0.98990	0.810750342552	0.80897	0.9818756798931852	0.98179	.	.	0.911249995232	0.97587	D	0.762766	0.93586	D	0.50331	0.94381	D	0.485193	0.94302	D	0.984927415847778	0.76075	D	0.999138	0.99663	D	0.817508	0.85052	0.8241972	0.89809	0.817508	0.85054	0.8241972	0.89809	-11.285	0.81198	D	.	.	0.994	0.94980	P	.	.	5.489903	0.91472	32	0.99777439819834524	0.86433	0.91577	0.53820	D	AEFDGBCI	0.962376	0.98394	D	0.888191481883278	0.91168	10.74938	0.769358477230547	0.87597	9.27663	0.999999999942353	0.74766	0.676563	0.55306	0	0.588066	0.40923	0	0.673471	0.61138	0	0.63947	0.58350	0	.	.	4.48	4.48	0.53973	8.017000	0.88732	7.913000	0.74126	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	11.833	0.51581	295	0.88218	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1435.98	41	chr2	96115824	.	T	C	1435.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=1016;ExcessHet=0.0000;FS=3.792;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.80;ReadPosRankSum=0.094;SOR=0.692	GT:AD:DP:GQ:PL	0/0:82,0:82:99:0,120,1800	20	0	1	0
chr2	96145198	96145198	C	T	exonic	DUSP2	.	nonsynonymous SNV	DUSP2:NM_004418:exon1:c.G157A:p.A53T,	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.835	P	0.298	B	0.001	D	0.689	D	0.605	N	1.79	T	-1.023	T	0.033	T	0.197	1.784	11.92	3.1	0.843	0.452	8.718	0.032	0.0967550393219	.	.	0	0	0	0	.	0	0	0	6.5e-06	1	154602	rs761246392	0.0001	0.0001	0.0001	0.0001	0.0020	0.0001	9.73e-05	0.0011	0.0010	0.0015	0.0006	0	0	0	0.0020	8.71e-05	0.0002	0	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0005	0.0004	0.0007	0	6.594e-05	0	0	0	0	8.888e-05	0	0	1.0	0.00964	T	0.725	0.05256	T	0.835	0.46254	P	0.298	0.40966	B	0.000710	0.42254	D	0.162693	0.68922	0.33310	D	0.44	0.12706	N	1.79	0.25509	T	0.66	0.02297	N	0.05	0.02179	-1.0228	0.22802	T	0.033	0.14203	T	10	0.086061954	0.14591	T	0.096755	0.76657	D	0.032	0.07718	0.446	0.50466	0.536393136767	0.53290	0.2547649638332699	0.25390	1.5778815892	0.88350	0.947378337383	0.99689	D	0.077658	0.35707	T	-0.444862	0.01211	T	-0.572242	0.15245	T	0.13713419261851	0.16026	T	0.534247	0.17838	T	0.08207157	0.18890	0.08623841	0.19965	0.08207157	0.18889	0.08623841	0.19965	-6.663	0.51531	T	.	.	0.125	0.26357	B	.	.	2.722040	0.35608	19.94	0.97427559422719512	0.33911	0.13671	0.17987	N	ALL	0.101571	0.20396	N	-0.177166996322565	0.34087	1.941459	-0.130866376159558	0.34152	1.96139	0.999999999992448	0.74766	0.685219	0.55550	0	0.52208	0.09955	0	0.674405	0.61402	0	0.554799	0.18163	0	.	.	4.02	3.1	0.34780	0.285000	0.18642	1.693000	0.28083	0.495000	0.22486	0.995000	0.38783	1.000000	0.68203	0.562000	0.30459	0.4134:0.5866:0.0:0.0	8.718	0.33584	296	0.88164	Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	590.98	28	chr2	96145198	.	C	T	590.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.679;DP=605;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.89;ReadPosRankSum=0.585;SOR=0.793	GT:AD:DP:GQ:PL	0/0:32,0:32:93:0,93,1395	20	0	1	0
chr2	96284585	96284585	C	T	exonic	SNRNP200	.	nonsynonymous SNV	SNRNP200:NM_014014:exon31:c.G4165A:p.V1389I,	Retinitis pigmentosa 33, Autosomal dominant	.	0	1411	103	8	0	119	0.0404624	0.9982	0.89	101450	Retinitis_pigmentosa|not_specified|not_provided	Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.001	B	0.012	B	0.000	D	1.000	D	0.005	N	1.34	T	-1.105	T	0.026	T	0.315	2.906	15.68	5.62	2.659	5.725	12.526	0.062	.	0.0038	0.00419329	0.0053	0.0003	0.0040	0	0.0017	0.0065	0.0055	0.0092	0.0051746	800	154602	rs143898031	0.0045	0.0046	0.0043	0.0048	0.0495	0.0045	0.0044	0.0448	0.0430	0.0010	0.0045	0.0198	0	0.0007	0.0495	0.0039	0.0068	0.0101	0.0036	0.0036	0.0034	0.0039	0.0083	0.0034	0.0033	0.0063	0.0058	0.0007	0.0044	0.0073	0.0205	0.0002	0.0007	0.0476	0.0037	0.0104	0.0083	0.141	0.25560	T	0.159	0.31527	T	0.001	0.07471	B	0.012	0.16012	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.31	0.10265	N	1.34	0.34841	T	-0.28	0.11547	N	0.291	0.32921	-1.1047	0.03567	T	0.026	0.11264	T	10	0.008113712	0.00184	T	0.008952	0.23583	T	0.062	0.17934	.	.	0.174091166621	0.17034	0.5685495379776625	0.56782	0.810597044278	0.66712	0.613193273544	0.54767	T	0.094437	0.39416	T	-0.457552	0.01018	T	-0.422057	0.30840	T	0.00818022676011606	0.00098	T	0.905909	0.66829	D	0.13796365	0.31925	0.070453815	0.14972	0.13796365	0.31925	0.070453815	0.14972	-6.034	0.46563	T	0.26735886023795424	0.36023	0.077	0.06295	B	.	.	3.656982	0.51934	23.2	0.99634088163219547	0.76203	0.96016	0.67153	D	AEFDBCI	0.560424	0.56884	D	-0.0620636731460172	0.39066	2.297824	0.168667584025889	0.48139	3.033977	0.999997737677715	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	5.801000	0.68775	7.664000	0.64404	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.719000	0.34739	0.0:0.92:0.0:0.08	12.526	0.55431	291	0.88420	DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.07143	2774.68	36	chr2	96284585	.	C	T	2774.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.01;DP=795;ExcessHet=0.3300;FS=5.389;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=17.02;ReadPosRankSum=-1.135e+00;SOR=1.150	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1219	18	0	3	0
chr2	96291879	96291879	G	A	exonic	SNRNP200	.	nonsynonymous SNV	SNRNP200:NM_014014:exon17:c.C2182T:p.R728W,	Retinitis pigmentosa 33, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.815	H	-2.59	D	0.998	D	0.908	D	0.976	3.993	20.5	3.32	0.432	1.199	14.255	0.803	0.662145270691	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs773041177	7.525e-06	7.524e-06	8.168e-06	6.875e-06	4.472e-05	4.04e-06	2.95e-06	7.41e-06	2.77e-06	0	4.472e-05	0	0	1.874e-05	0	6.295e-06	0	1.159e-05	1.972e-05	1.97e-05	0	4.036e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0	9.423e-05	0	1.47e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.975	0.99847	H	-2.59	0.89822	D	-7.67	0.95542	D	0.964	0.97426	0.998	0.97156	D	0.908	0.96962	D	10	0.95510066	0.94867	D	0.662145	0.97164	D	0.803	0.93582	0.715	0.85051	0.951863511106	0.95135	0.8693082696466597	0.86895	2.15754632586	0.95358	0.931702017784	0.99081	D	0.929781	0.98804	D	0.320472	0.84505	D	0.398406	0.92061	D	0.998098909854889	0.93215	D	0.99594	0.98606	D	0.90422976	0.91764	0.8280073	0.90055	0.90422976	0.91765	0.8280073	0.90056	-10.847	0.78812	D	0.9974487439733444	0.99956	0.999	0.97850	P	.	.	5.500971	0.91587	32	0.99920376429895041	0.98721	0.93215	0.57626	D	AEFDBCI	0.707012	0.66188	D	0.753362295421452	0.83122	7.935741	0.597963633009503	0.74793	6.197972	0.981104760177433	0.30218	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.17	3.32	0.37134	1.243000	0.32370	5.541000	0.48869	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.4838:0.5162	14.255	0.65595	291	0.88420	Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1657.98	38	chr2	96291879	.	G	A	1657.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.890e-01;DP=909;ExcessHet=0.0000;FS=1.922;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.87;ReadPosRankSum=1.06;SOR=0.549	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1424	20	0	1	0
chr2	96327876	96327876	G	C	exonic	ITPRIPL1	.	nonsynonymous SNV	ITPRIPL1:NM_178495:exon1:c.G1269C:p.E423D	.	.	430	1086	6	0	0	6	0.00275482	.	.	2428409	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.25	T	0.003	B	0.009	B	0.479	N	0.971	N	0.695	N	2.15	T	-1.037	T	0.051	T	0.204	1.204	9.891	2.63	0.848	0.633	2.510	0.017	0.00261343413247	.	0.000199681	0.0002	0	8.646e-05	0	0	0.0001	0	0.0007	0.0001488	23	154602	rs568942457	9.303e-05	9.303e-05	7.079e-05	0.0001	0.0012	8.025e-05	7.518e-05	0.0006	0.0004	2.987e-05	0.0001	0.0004	0	0	0.0012	5.486e-05	0.0002	0.0005	8.54e-05	8.53e-05	0.0001	6.721e-05	0.0008	4.956e-05	3.962e-05	0.0003	0.0002	7.223e-05	0	0	0.0006	0.0002	0	0	4.411e-05	0	0.0008	0.089	0.34621	T	0.0	0.92824	D	0.003	0.11197	B	0.009	0.14300	B	0.478900	0.12189	N	0.707310	0.970545	0.25699	N	1.385	0.34509	L	2.15	0.19311	T	-1.49	0.36385	N	0.16	0.16725	-1.0366	0.18357	T	0.051	0.21883	T	10	0.038013935	0.02192	T	0.002613	0.05292	T	0.021	0.04004	0.364	0.37036	0.101711395817	0.09552	0.10177298488246132	0.10108	0.13540468119	0.15262	0.47032803297	0.34725	T	0.012845	0.11217	T	-0.467842	0.00877	T	-0.560368	0.16343	T	0.0269187825070944	0.01533	T	0.552645	0.19087	T	0.1238982	0.29084	0.08525268	0.19670	0.1238982	0.29083	0.08525268	0.19669	-3.292	0.14391	T	.	.	0.127	0.29697	B	.;.;.	.;.;.	1.619218	0.20681	14.86	0.98525038853534375	0.42520	0.75382	0.36906	D	AEFBI	0.201364	0.32802	N	-0.202925958877422	0.33014	1.868295	-0.127613778699174	0.34281	1.970198	0.995202358391409	0.34004	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.5	2.63	0.30420	0.797000	0.26660	3.027000	0.36026	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.903000	0.43903	0.1265:0.1368:0.4551:0.2815	2.510	0.04371	289	0.88525	.;Mab-21 domain|Mab-21 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2875.98	35	chr2	96327876	.	G	C	2875.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.390e-01;DP=1020;ExcessHet=0.0000;FS=3.211;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.60;ReadPosRankSum=-1.809e+00;SOR=0.841	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,114,1710	20	0	1	0
chr2	96328007	96328007	G	A	exonic	ITPRIPL1	.	nonsynonymous SNV	ITPRIPL1:NM_178495:exon1:c.G1400A:p.R467Q	.	.	429	1086	7	0	0	7	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.144	B	0.022	B	0.447	N	1.000	N	0.895	L	3.01	T	-0.947	T	0.011	T	0.231	-0.327	2.448	2.77	0.451	0.838	1.804	0.033	0.00337433486095	0.0014	0.00199681	0.0008	0.0032	0.0008	0	0	0.0007	0.0033	0.0002	0.0008279	128	154602	rs141148427	0.0006	0.0006	0.0007	0.0006	0.0080	0.0006	0.0006	0.0061	0.0055	0.0035	0.0008	0.0009	0	0	0.0080	0.0006	0.0012	0.0002	0.0014	0.0014	0.0013	0.0014	0.0033	0.0012	0.0011	0.0028	0.0026	0.0033	0.0077	0.0006	0.0009	0	0	0.0102	0.0007	0.0005	0.0002	0.527	0.07521	T	0.251	0.24406	T	0.144	0.27697	B	0.022	0.19653	B	0.446875	0.12557	N	0.634983	0.999992	0.08975	N	0.895	0.22405	L	3.01	0.09075	T	-0.59	0.17624	N	0.126	0.12055	-0.9465	0.41566	T	0.011	0.03996	T	10	0.005902618	0.00132	T	0.003374	0.07542	T	0.046	0.12618	.	.	0.156986980423	0.15292	0.10104610837038452	0.10035	0.170945335344	0.19261	0.257053911686	0.04546	T	0.005315	0.04761	T	-0.56086	0.00251	T	-0.582717	0.14303	T	0.00644270552850098	0.00072	T	0.738626	0.35686	T	0.028520785	0.02202	0.025810607	0.00640	0.028520785	0.02201	0.025810607	0.00640	-3.524	0.17310	T	.	.	0.063	0.05060	B	.;.;.	.;.;.	1.800425	0.22887	15.80	0.74782125670024524	0.10825	0.11896	0.16931	N	AEFBI	0.072021	0.14358	N	-0.691798690135187	0.16253	0.8264908	-0.621315170944539	0.18945	1.014375	0.995120611085639	0.33964	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	5.5	2.77	0.31614	0.980000	0.29111	2.796000	0.34824	0.676000	0.76740	0.153000	0.23698	1.000000	0.68203	0.958000	0.51230	0.2314:0.1364:0.4915:0.1406	1.804	0.02890	289	0.88525	.;Mab-21 domain|Mab-21 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2687.98	35	chr2	96328007	.	G	A	2687.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=1172;ExcessHet=0.0000;FS=1.655;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=0.279;SOR=0.825	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,114,1710	20	0	1	0
chr2	96344170	96344170	A	G	exonic	NCAPH	.	nonsynonymous SNV	NCAPH:NM_001281712:exon5:c.A253G:p.R85G	.	.	.	.	.	.	.	.	.	.	.	720015	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.16	T	0.0	B	0.002	B	0.000	D	0.841	N	0.895	L	0.97	T	-1.061	T	0.044	T	0.418	2.601	14.66	5.43	2.203	8.683	13.770	0.182	.	0.0002	0.00758786	0.0033	0.0004	0.0002	0.0429	0	4.502e-05	0	0.0010	0.0029495	456	154602	rs117616494	0.0009	0.0009	0.0009	0.0009	0.0259	0.0008	0.0008	0.0246	0.0241	0	6.738e-05	0	0.0259	0	0.0007	4.497e-06	0.0022	0.0011	0.0015	0.0015	0.0013	0.0017	0.0383	0.0013	0.0013	0.0340	0.0323	0.0002	0	0.0002	0	0.0383	0	0	4.409e-05	0.0014	0.0019	0.027	0.48186	D	0.007	0.69154	D	0.0	0.02946	B	0.001	0.06944	B	0.000069	0.52346	D	0.196757	0.841095	0.28629	N	1.355	0.33814	L	0.97	0.42502	T	-1.59	0.49846	N	0.231	0.26475	-1.0606	0.11607	T	0.044	0.18865	T	10	0.009615779	0.00217	T	.	.	.	0.182	0.45420	.	.	0.557481709393	0.55408	0.2397740635951329	0.23891	0.236685424056	0.26210	0.326104640961	0.14345	T	0.032864	0.22669	T	-0.416261	0.01808	T	-0.332721	0.41166	T	0.0362234048814784	0.03020	T	0.845015	0.52437	T	0.14431234	0.33130	0.15251815	0.35880	0.122409135	0.28766	0.16507943	0.38208	-6.381	0.55875	T	0.2722857973245426	0.36610	0.143	0.34470	B	.;.;.;.	.;.;.;.	3.494496	0.48858	22.7	0.99298247253037342	0.58541	0.98085	0.79471	D	ALL	0.921211	0.89435	D	-0.0498374788452909	0.39610	2.33862	0.117665741803105	0.45454	2.808154	1.0	0.98316	0.730579	0.87903	0	0.749866	0.99406	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.43	5.43	0.79006	9.103000	0.93586	9.305000	0.79908	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.420000	0.27228	1.0:0.0:0.0:0.0	13.770	0.62506	289	0.88525	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	961.98	34	chr2	96344170	.	A	G	961.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.580e+00;DP=797;ExcessHet=0.0000;FS=2.695;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.13;ReadPosRankSum=1.22;SOR=1.038	GT:AD:DP:GQ:PL	0/1:50,45:95:99:976,0,1247	20	0	1	0
chr2	96354198	96354198	G	A	exonic	NCAPH	.	nonsynonymous SNV	NCAPH:NM_001281712:exon8:c.G610A:p.V204I	.	.	432	1082	8	0	0	8	0.00368324	.	.	3211553	NCAPH-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.38	T	0.019	B	0.023	B	0.005	N	0.903	N	1.825	L	0.94	T	-1.049	T	0.079	T	0.115	1.883	12.26	2.08	0.655	0.057	3.464	0.027	0.0055618827627	.	0.00119808	0.0009	0	0.0002	0	0.0002	7.502e-05	0.0022	0.0063	0.0007891	122	154602	rs536560583	0.0004	0.0004	0.0003	0.0006	0.0058	0.0004	0.0004	0.0054	0.0052	0	4.473e-05	0	2.52e-05	5.616e-05	0.0019	6.025e-05	0.0005	0.0058	0.0003	0.0003	0.0001	0.0004	0.0068	0.0002	0.0002	0.0050	0.0044	0	0	0	0	0	0	0	7.35e-05	0.0005	0.0068	0.23	0.18308	T	0.351	0.36365	T	0.009	0.17989	B	0.017	0.19966	B	0.004686	0.33486	N	0.311859	0.903236	0.27659	N	1.555	0.39373	L	0.94	0.43672	T	0.04	0.06488	N	0.057	0.02964	-1.0486	0.14790	T	0.079	0.31466	T	10	0.009620041	0.00217	T	0.005562	0.14349	T	0.027	0.05988	0.493	0.58048	0.360163838653	0.35632	0.0839256415918071	0.08326	0.162679693252	0.18360	0.395833849907	0.24489	T	0.024314	0.18398	T	-0.586084	0.00177	T	-0.61245	0.11786	T	0.0147583170771568	0.00309	T	0.730127	0.34567	T	0.025312321	0.01455	0.043337874	0.05370	0.028445465	0.02183	0.040646534	0.04439	-3.93	0.22753	T	0.14988255244189536	0.17562	0.087	0.17953	B	.;.;.;.	.;.;.;.	1.788000	0.22733	15.74	0.97489165973505298	0.34230	0.64636	0.32472	D	AEFDBHCI	0.092251	0.18679	N	-0.324180257178981	0.28233	1.555503	-0.213028626270591	0.31066	1.754797	0.999956754152261	0.48110	0.722319	0.85440	0	0.724815	0.89359	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.08	2.08	0.26079	-0.085000	0.11215	1.572000	0.27423	0.676000	0.76740	0.929000	0.32243	1.000000	0.68203	0.979000	0.57723	0.2839:0.0:0.5368:0.1792	3.464	0.07111	287	0.88635	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1027.98	33	chr2	96354198	.	G	A	1027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.404;DP=807;ExcessHet=0.0000;FS=2.779;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=4.000e-03;SOR=0.529	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1368	20	0	1	0
chr2	96354330	96354330	G	A	exonic	NCAPH	.	nonsynonymous SNV	NCAPH:NM_001281712:exon8:c.G742A:p.V248I	.	.	437	1078	7	0	0	7	0.00323625	.	.	697708	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.4	T	0.267	B	0.109	B	0.050	N	1.000	N	0.345	N	0.98	T	-1.065	T	0.044	T	0.108	0.954	8.892	2.65	0.230	1.498	12.988	0.054	.	0.0082	0.00359425	0.0063	0.0018	0.0067	0	0.0020	0.0093	0.0044	0.0016	0.0066364	1026	154602	rs61754144	0.0098	0.0098	0.0099	0.0096	0.0111	0.0096	0.0096	0.0110	0.0109	0.0016	0.0076	0.0177	0	0.0027	0.0055	0.0111	0.0110	0.0021	0.0075	0.0076	0.0082	0.0069	0.0122	0.0072	0.0070	0.0107	0.0102	0.0019	0.0395	0.0122	0.0202	0.0004	0.0020	0.0136	0.0103	0.0170	0.0021	0.218	0.21801	T	0.053	0.48080	T	0.267	0.31683	B	0.109	0.31370	B	0.049778	0.23131	N	0.482604	1	0.08975	N	0.69	0.16971	N	0.98	0.42122	T	-0.28	0.13805	N	0.021	0.01421	-1.0652	0.10502	T	0.044	0.18989	T	10	0.007361263	0.00167	T	.	.	.	0.054	0.15330	.	.	0.194818534648	0.19098	0.09275842440967638	0.09207	0.182198156154	0.20484	0.238210767508	0.02632	T	0.019661	0.15622	T	-0.599767	0.00146	T	-0.626339	0.10693	T	0.00918449090876896	0.00116	T	0.190581	0.02094	T	0.055584323	0.10820	0.06292865	0.12389	0.045065183	0.07311	0.06292865	0.12389	-4.241	0.29786	T	0.08707210750339724	0.05078	0.072	0.05317	B	.;.;.;.	.;.;.;.	0.392508	0.07640	4.306	0.94089715671242691	0.24244	0.36411	0.25527	N	AEFBCI	0.055691	0.10234	N	-0.986096710946056	0.08900	0.4190979	-0.960792081231845	0.10673	0.5390801	0.999978674152249	0.50053	0.722319	0.85440	0	0.724815	0.89359	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.58	2.65	0.30588	0.519000	0.22570	0.468000	0.18684	-0.120000	0.14102	0.001000	0.13787	0.000000	0.08366	0.127000	0.19450	0.0:0.0:0.5427:0.4573	12.988	0.58006	287	0.88635	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1692.98	37	chr2	96354330	.	G	A	1692.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.799;DP=940;ExcessHet=0.0000;FS=2.653;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.39;ReadPosRankSum=1.99;SOR=1.029	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,99,1485	20	0	1	0
chr2	96551460	96551460	G	A	exonic	ARID5A	.	nonsynonymous SNV	ARID5A:NM_001319093:exon6:c.G440A:p.R147Q	.	.	12	1490	19	1	0	21	0.00699767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.112	B	0.01	B	0.525	N	1.000	N	0	N	-0.1	T	-1.045	T	0.100	T	0.105	0.263	5.423	0.287	-0.151	-0.484	6.639	0.046	0.0077247946636	0.0002	0.000998403	0.0021	0.0005	0	0	0	0.0004	0.0023	0.0081	0.0009185	142	154602	rs202219610	0.0007	0.0007	0.0005	0.0009	0.0067	0.0006	0.0006	0.0063	0.0061	6.088e-05	0.0002	0.0026	2.607e-05	0	0.0030	0.0002	0.0008	0.0067	0.0005	0.0005	0.0004	0.0005	0.0060	0.0004	0.0003	0.0043	0.0037	4.813e-05	0	0.0004	0.0026	0.0002	0	0	0.0003	0.0014	0.0060	0.912	0.02407	T	0.681	0.06762	T	0.001	0.07471	B	0.003	0.08700	B	0.524851	0.05223	N	1.299680	1	0.08975	N	0.425	0.12573	N	-0.1	0.64264	T	-0.03	0.07444	N	0.052	0.03175	-1.0449	0.15854	T	0.100	0.37290	T	10	0.0034110546	0.00060	T	0.007725	0.20483	T	0.046	0.12618	.	.	0.386522206555	0.38262	0.08060890171235377	0.07995	0.163533553408	0.18441	0.211388140917	0.00871	T	0.013025	0.11342	T	-0.565486	0.00235	T	-0.581472	0.14415	T	0.000941750006319852	0.00009	T	0.663534	0.27241	T	0.012754522	0.00041	0.02262769	0.00284	0.012754522	0.00041	0.02262769	0.00284	-3.529	0.16840	T	.	.	0.067	0.03964	B	.;.	.;.	-0.105963	0.03606	0.708	0.85316935220186529	0.15817	0.16084	0.19223	N	AEFBCI	0.069084	0.13659	N	-1.27119278921302	0.04026	0.1809841	-1.17909938010335	0.06259	0.3007581	0.999655942333059	0.41424	0.706548	0.73137	0	0.697927	0.68747	0	0.667671	0.60360	0	0.714379	0.83352	0	.	.	4.59	0.287	0.14965	-1.108000	0.03423	-0.878000	0.07076	-0.733000	0.03713	0.000000	0.06391	0.000000	0.08366	0.685000	0.33688	0.5588:0.0:0.4412:0.0	6.639	0.22089	207	0.91931	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	570.98	34	chr2	96551460	.	G	A	570.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.51;DP=734;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.64;ReadPosRankSum=-9.560e-01;SOR=0.616	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1328	20	0	1	0
chr2	96612530	96612530	C	T	exonic	KANSL3	.	nonsynonymous SNV	KANSL3:NM_001349262:exon6:c.G262A:p.G88S	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.619	P	0.268	B	0.000	D	1.000	D	0.755	N	1.09	T	-1.080	T	0.077	T	0.207	3.284	17.03	5.42	2.821	3.517	10.025	0.047	0.00813550108923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.25355	T	0.185	0.28958	T	0.094	0.25382	B	0.038	0.23361	B	0.000002	0.62929	D	0.059064	0.990162	0.41101	D	1.1	0.28011	L	1.09	0.39223	T	-1.57	0.37955	N	0.324	0.36464	-1.0802	0.07310	T	0.077	0.30798	T	10	0.15968692	0.29998	T	0.008136	0.21572	T	0.047	0.12962	.	.	0.2419029386	0.23804	0.7049297246208993	0.70434	0.316727296747	0.33929	0.63823133707	0.58313	T	.	.	.	-0.176553	0.24249	T	-0.491383	0.23245	T	0.725200355052948	0.41963	D	0.881012	0.63166	D	.	.	.	.	.	.	.	.	-10.783	0.78454	D	.	.	0.089	0.11989	B	.;.	.;.	4.849705	0.79257	27.1	0.99659041348824129	0.77820	0.91241	0.53137	D	AEFBI	0.232261	0.35536	N	0.103198693304339	0.46611	2.898876	0.27652483838553	0.54173	3.582992	0.927469831184507	0.26889	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.42	5.42	0.78666	2.873000	0.48173	7.663000	0.64347	0.599000	0.40250	0.960000	0.33603	1.000000	0.68203	0.998000	0.85391	0.0:0.9112:0.0:0.0888	10.025	0.41240	204	0.92044	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1587.98	36	chr2	96612530	.	C	T	1587.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.572e+00;DP=823;ExcessHet=0.0000;FS=3.074;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=-1.690e-01;SOR=0.482	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1225	20	0	1	0
chr2	96619749	96619749	T	C	exonic	KANSL3	.	nonsynonymous SNV	KANSL3:NM_001115016:exon4:c.A400G:p.M134V	.	.	433	1088	1	0	0	1	0.000459348	.	.	2716059	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.011	N	1.000	N	-0.345	N	1.12	T	-0.992	T	0.032	T	0.091	0.592	7.191	0.307	0.056	-0.213	5.363	0.060	0.00466739238787	.	.	8.363e-05	0	0	0	0	9.297e-05	0	0.0001	3.88e-05	6	154602	rs370590181	2.208e-05	2.257e-05	1.687e-05	2.742e-05	0.0011	1.582e-05	1.378e-05	0.0005	0.0003	0	0.0001	0	0	0	0.0011	1.479e-05	5.148e-05	2.514e-05	1.971e-05	1.97e-05	3.854e-05	0	6.542e-05	5.24e-06	2.45e-06	.	.	0	0	6.542e-05	0	0	0	0	1.47e-05	0.0005	0	0.589	0.05826	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.010893	0.29744	N	0.401640	1	0.81001	D	-0.83	0.01527	N	1.12	0.38718	T	-0.09	0.08340	N	0.145	0.14622	-0.9915	0.32218	T	0.032	0.13592	T	10	0.02164501	0.00522	T	0.004667	0.11597	T	0.060	0.17295	.	.	0.043077524339	0.03247	0.18248174036570855	0.18167	0.230142155962	0.25565	0.369675278664	0.20785	T	.	.	.	-0.42816	0.01521	T	-0.660463	0.08236	T	0.0134920640124277	0.00247	T	0.743426	0.36288	T	.	.	.	.	.	.	.	.	-0.586	0.00638	T	.	.	0.053	0.00259	B	.	.	0.280984	0.06578	3.068	0.77428874588156449	0.11872	0.33792	0.24913	N	AEFBI	0.116959	0.22933	N	-0.967343415335847	0.09307	0.439956	-0.807070427958418	0.14325	0.7478873	0.981082319076267	0.30215	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.59	0.307	0.15057	-0.213000	0.09309	-1.734000	0.04824	-0.121000	0.13915	0.001000	0.13787	0.000000	0.08366	0.998000	0.85391	0.0:0.3389:0.1459:0.5152	5.363	0.15402	204	0.92044	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1271.98	34	chr2	96619749	.	T	C	1271.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.830e-01;DP=788;ExcessHet=0.0000;FS=1.563;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=0.495;SOR=0.500	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1179	20	0	1	0
chr2	96689738	96689738	G	A	exonic	FER1L5	.	nonsynonymous SNV	FER1L5:NM_001293083:exon26:c.G2620A:p.A874T,	.	.	385	1098	37	2	0	41	0.0183281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.033	B	0.012	B	.	.	.	.	1.2	L	.	.	-0.988	T	0.089	T	0.041	0.051	4.280	3.49	0.624	0.112	5.365	0.021	.	0.0007	0.00219649	0.0057	0.0005	0	0.0017	0	0.0024	0.0172	0.0112	0.0007956	123	154602	rs200820148	0.0010	0.0010	0.0007	0.0014	0.0102	0.0010	0.0010	0.0096	0.0093	0.0002	0.0009	0.0092	0.0004	2.055e-05	0.0061	0.0002	0.0019	0.0102	0.0008	0.0008	0.0005	0.0010	0.0099	0.0006	0.0006	0.0077	0.0069	0.0003	0	0.0010	0.0049	0.0004	0	0.0034	0.0002	0.0019	0.0099	.	.	.	0.2	0.33894	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.10198	-0.9879	0.33126	T	0.089	0.34353	T	7	0.0031657815	0.00053	T	.	.	.	.	.	.	.	0.0138822411134	0.00435	0.46933288399365947	0.46852	.	.	0.283456027508	0.07980	T	.	.	.	-0.517655	0.00454	T	-0.508391	0.21481	T	0.00570861671985965	0.00062	T	0.624238	0.24084	T	0.022747038	0.00960	0.11416561	0.27556	0.022747038	0.00960	0.11416561	0.27556	-4.91	0.35847	T	.	.	0.081	0.12655	B	.;.;.;.	.;.;.;.	1.528673	0.19615	14.35	0.7415529009742533	0.10590	0.16561	0.19446	N	AEFDBI	.	.	.	-0.952372442010241	0.09640	0.4570959	-0.939041153051163	0.11178	0.5678947	0.251354163830948	0.18683	0.055982	0.00716	0	0.063388	0.01293	0	0.072005	0.02045	0	0.062806	0.01542	0	0.295875	0.34619	5.28	3.49	0.39065	-0.153000	0.10130	1.816000	0.29002	-0.143000	0.12349	0.000000	0.06391	0.009000	0.19889	0.062000	0.16114	0.1711:0.0:0.6693:0.1596	5.365	0.15410	189	0.92630	Peroxin/Ferlin domain;Peroxin/Ferlin domain;Peroxin/Ferlin domain;Peroxin/Ferlin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	412.98	38	chr2	96689738	.	G	A	412.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.300e-01;DP=748;ExcessHet=0.0000;FS=1.261;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=-1.593e+00;SOR=1.061	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr2	96704283	96704283	G	A	exonic	FER1L5	.	nonsynonymous SNV	FER1L5:NM_001293083:exon52:c.G5870A:p.R1957H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.479	P	0.131	B	0.010	U	.	.	1.765	L	.	.	-0.835	T	0.103	T	0.376	0.597	7.218	3.04	1.153	1.303	7.462	0.084	.	.	.	9.937e-05	0.0001	0	0	0	0.0002	0	0	0.0001229	19	154602	rs763759424	0.0001	0.0001	9.938e-05	0.0001	0.0009	9.093e-05	8.599e-05	0.0003	0.0002	0.0004	0.0004	0	2.519e-05	1.873e-05	0.0009	9.713e-05	0.0002	0	7.885e-05	7.88e-05	8.993e-05	6.726e-05	0.0001	4.497e-05	3.512e-05	6.802e-05	5.086e-05	4.828e-05	0	0	0	0	0	0	0.0001	0.0005	0	.	.	.	0.149	0.32568	T	.	.	.	.	.	.	0.010059	0.30087	U	0.151685	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.49511	-0.8353	0.52956	T	0.103	0.37869	T	8	0.13679549	0.26025	T	.	.	.	.	.	0.567	0.68901	0.0716867268079	0.06686	0.3068921989375757	0.30602	.	.	0.277979135513	0.07212	T	.	.	.	-0.0882075	0.38372	T	-0.079767	0.64920	T	0.236832797527313	0.22273	T	0.782022	0.41734	T	0.091518454	0.21446	0.12406943	0.29909	0.091518454	0.21446	0.12406943	0.29908	-4.467	0.30454	T	.	.	0.104	0.21503	B	.;.;.;.	.;.;.;.	2.892439	0.38310	20.7	0.76018642698396033	0.11301	0.63123	0.31991	D	AEFBI	.	.	.	-0.200605363475831	0.33109	1.874751	-0.141152627327887	0.33750	1.933915	0.00535787296800566	0.10912	0.062308	0.01283	0	0.097471	0.02872	0	0.083675	0.02720	0	0.089874	0.02613	0	0.19193	0.30047	5.33	3.04	0.34171	1.744000	0.37894	3.125000	0.36417	0.676000	0.76740	0.503000	0.26979	1.000000	0.68203	0.582000	0.30943	0.2378:0.0:0.7622:0.0	7.462	0.26472	187	0.92701	Ferlin, C-terminal domain;Ferlin, C-terminal domain;Ferlin, C-terminal domain;Ferlin, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	977.98	39	chr2	96704283	.	G	A	977.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.544;DP=788;ExcessHet=0.0000;FS=0.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.63;ReadPosRankSum=-8.190e-01;SOR=0.559	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1156	20	0	1	0
chr2	96816473	96816473	C	T	exonic	CNNM3	.	nonsynonymous SNV	CNNM3:NM_017623:exon1:c.C196T:p.L66F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.001	B	0.001	B	0.000	U	0.988	N	0.695	N	-2.89	D	-0.399	T	0.533	D	0.194	2.811	15.36	2.11	0.328	-0.046	7.917	0.260	0.987571586336	.	.	0.0002	0	0	0	0	0.0007	0	0	1.29e-05	2	154602	rs764221378	2.603e-05	2.805e-05	2.416e-05	2.795e-05	3.812e-05	1.874e-05	1.653e-05	2.231e-05	1.909e-05	3.812e-05	0	0	0	0	0	3.083e-05	1.868e-05	0	1.975e-05	1.971e-05	2.574e-05	1.347e-05	4.417e-05	5.25e-06	2.46e-06	1.173e-05	6.25e-06	0	0	0	0	0	0	0	4.417e-05	0	0	0.097	0.31682	T	0.148	0.33330	T	0.001	0.07471	B	0.001	0.04355	B	0.000027	0.55875	U	0.000000	0.98802	0.24455	N	0.975	0.24501	L	-2.89	0.92407	D	-1.67	0.39887	N	0.042	0.01498	-0.3993	0.72049	T	0.533	0.82694	D	10	0.10665932	0.19775	T	0.987572	0.99947	D	0.260	0.57221	0.234	0.16305	0.0762999501168	0.06990	0.5407660077327664	0.54001	.	.	0.880744457245	0.94061	D	0.042292	0.26136	T	-0.140631	0.29788	T	-0.319802	0.42597	T	0.532766759395599	0.33836	D	0.529347	0.17530	T	0.11802065	0.27814	0.11490716	0.27738	0.11802065	0.27814	0.11490716	0.27737	-4.928	0.38992	T	.	.	0.236	0.46927	B	.;.	.;.	2.989500	0.39905	21.1	0.99649919083938054	0.77254	0.26075	0.22887	N	ALL	0.062342	0.11978	N	-0.875238475431654	0.11434	0.5517489	-0.817173522504223	0.14079	0.7338234	0.999999999997565	0.74766	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.372554	0.06265	0	.	.	3.98	2.11	0.26299	-0.379000	0.07494	1.244000	0.25126	0.475000	0.22001	0.000000	0.06391	0.990000	0.31317	0.941000	0.48210	0.0:0.7429:0.1628:0.0943	7.917	0.28983	132	0.94697	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	275.98	37	chr2	96816473	.	C	T	275.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.289;DP=691;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.86;ReadPosRankSum=0.392;SOR=0.709	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1025	20	0	1	0
chr2	96816944	96816944	C	G	exonic	CNNM3	.	nonsynonymous SNV	CNNM3:NM_017623:exon1:c.C667G:p.P223A	.	.	445	1064	13	0	0	13	0.00607193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.137	B	0.115	B	0.013	U	1.000	N	-0.505	N	-2.2	D	-0.790	T	0.276	T	0.316	-1.517	0.016	0.887	-0.157	0.401	8.398	0.210	.	.	0.0123802	0.0649	0.25	0	0.0714	.	0.0814	0.0833	0.0609	0.0016817	260	154602	rs560855336	0.0036	0.0038	0.0033	0.0039	0.0616	0.0035	0.0034	0.0587	0.0575	0.0087	0.0013	0.0125	0.0616	0.0187	0.0106	0.0010	0.0058	0.0160	0.0066	0.0066	0.0056	0.0075	0.0328	0.0062	0.0061	0.0288	0.0272	0.0075	0	0.0009	0.0144	0.0328	0.0195	0.0068	0.0019	0.0068	0.0234	1.0	0.00964	T	0.919	0.02882	T	0.113	0.27402	B	0.07	0.31843	B	0.013284	0.28888	U	0.325525	0.999878	0.19925	N	0.76	0.19266	N	-2.2	0.86888	D	0.42	0.04694	N	0.126	0.11912	-0.7901	0.55724	T	0.276	0.64824	T	10	0.0015328825	0.00017	T	.	.	.	0.210	0.50028	.	.	0.0482279557977	0.04254	0.44931725001365397	0.44849	.	.	0.883661985397	0.94449	D	0.030216	0.21469	T	-0.345356	0.05026	T	-0.25392	0.49430	T	0.00379766356223546	0.00040	T	0.60064	0.22426	T	0.027182626	0.01873	0.04974611	0.07664	0.027182626	0.01873	0.04974611	0.07663	-3.47	0.18759	T	.	.	0.073	0.11124	B	.;.	.;.	0.973571	0.13505	10.03	0.50105670579270611	0.04326	0.04329	0.09888	N	AEFDBHCIJ	0.049719	0.08618	N	-1.40566180013837	0.02588	0.1145123	-1.38904731688883	0.03367	0.1569527	0.999999998007807	0.74766	0.437478	0.07067	0	0.218748	0.04544	0	0.519653	0.09787	0	0.603991	0.37454	0	.	.	3.93	0.887	0.18335	1.020000	0.29629	2.861000	0.35203	-0.472000	0.05088	0.001000	0.13787	1.000000	0.68203	0.169000	0.20946	0.3095:0.5406:0.1499:0.0	8.398	0.31729	132	0.94697	.;CNNM, transmembrane domain	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.04762	93.11	18	chr2	96816944	.	C	G	93.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.67;DP=442;ExcessHet=0.1072;FS=1.830;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=2.74;ReadPosRankSum=-2.890e-01;SOR=1.265	GT:AD:DP:GQ:PL	0/0:16,0:16:48:0,48,509	19	0	2	0
chr2	96829126	96829126	C	T	exonic	CNNM3	.	nonsynonymous SNV	CNNM3:NM_199078:exon6:c.C1907T:p.T636I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.006	B	0.007	B	0.233	N	1.000	N	0.69	N	-2.47	D	-0.604	T	0.463	T	0.035	0.922	8.753	1.43	-0.031	-0.045	4.237	0.105	0.152458440712	.	0.00119808	0.0002	0	8.663e-05	0.0031	0	0	0	0.0001	0.0002393	37	154602	rs202016851	7.252e-05	7.251e-05	7.624e-05	6.876e-05	0.0018	6.115e-05	5.7e-05	0.0015	0.0014	0	2.236e-05	0	0.0018	0	0	1.799e-06	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0041	0.0001	0.0001	0.0027	0.0023	0	0	0	0	0.0041	0	0	0	0.0005	0.0008	0.114	0.28646	T	0.123	0.35582	T	0.001	0.13644	B	0.007	0.12992	B	0.232972	0.15878	N	0.555867	1	0.08975	N	1.445	0.36358	L	-2.47	0.90735	D	-1.49	0.41618	N	0.079	0.05414	-0.6039	0.64656	T	0.463	0.79190	T	10	0.0052223206	0.00114	T	0.152458	0.83387	D	0.105	0.29889	.	.	0.139678290688	0.13603	0.26634958492587313	0.26547	.	.	0.290547549725	0.09001	T	0.027258	0.19999	T	-0.490928	0.00642	T	-0.47618	0.24853	T	0.00703052845273075	0.00080	T	0.371663	0.08799	T	0.04255382	0.06474	0.034880005	0.02636	0.04255382	0.06473	0.034880005	0.02635	-6.341	0.49494	T	.	.	0.157	0.34819	B	.;.	.;.	0.590568	0.09593	6.365	0.785135317583463	0.12333	0.10587	0.16052	N	AEFBCI	0.066480	0.13022	N	-1.10045126629788	0.06636	0.3060287	-1.10039613912622	0.07693	0.3752126	0.775809589144228	0.23750	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.44	1.43	0.21585	-0.081000	0.11285	0.134000	0.15084	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.292:0.4973:0.1333:0.0775	4.237	0.10082	127	0.94899	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	969.98	40	chr2	96829126	.	C	T	969.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.200e-01;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=-9.270e-01;SOR=0.641	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr2	96839560	96839560	T	G	exonic	ANKRD23	.	nonsynonymous SNV	ANKRD23:NM_144994:exon9:c.A907C:p.T303P,	.	.	415	1103	2	2	0	6	0.00271248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.966	D	0.804	P	0.150	U	1.000	D	0.695	N	-0.19	T	-1.125	T	0.004	T	0.484	4.724	26.3	5.28	2.216	1.777	11.519	0.131	.	.	0.0297524	0.0308	0.0014	0.0014	0.2180	0	0.0004	0.0263	0.0030	0.0052457	811	154602	rs74826568	0.0038	0.0037	0.0038	0.0037	0.1225	0.0037	0.0037	0.1194	0.1182	0.0003	0.0009	0	0.1225	0.0002	0.0003	3.848e-05	0.0064	0.0026	0.0054	0.0054	0.0045	0.0063	0.1418	0.0051	0.0050	0.1333	0.1299	0.0008	0	0.0007	0	0.1418	9.425e-05	0	5.884e-05	0.0052	0.0060	0.003	0.68238	D	0.011	0.64786	D	0.895	0.56202	P	0.368	0.58350	B	0.150258	0.17992	U	0.400420	0.820231	0.35377	D	1.61	0.41143	L	-0.39	0.69158	T	-0.03	0.12472	N	0.25	0.32148	-1.1249	0.02043	T	0.004	0.01365	T	10	0.0027197897	0.00042	T	.	.	.	0.131	0.35738	.	.	.	.	0.4121415988440924	0.41130	0.641846917885	0.57762	0.465603768826	0.34078	T	0.008345	0.07671	T	-0.432211	0.01437	T	-0.249797	0.49838	T	0.0224292232449353	0.00958	T	0.455554	0.13039	T	0.14771564	0.33756	0.22626257	0.47599	0.14771564	0.33755	0.22626257	0.47598	-3.346	0.14338	T	.	.	0.105	0.20819	B	.;.;.	.;.;.	2.861779	0.37813	20.6	0.99508411730336055	0.68499	0.41833	0.26745	N	ALL	0.313650	0.41874	N	0.126669442487198	0.47710	2.992883	0.150056702216517	0.47145	2.949171	0.999999999864316	0.74766	0.536635	0.22144	0	0.57239	0.20480	2	0.489635	0.07774	0	0.645665	0.59343	0	.	.	5.28	5.28	0.74118	1.245000	0.32393	3.260000	0.37085	0.665000	0.62972	0.102000	0.22834	1.000000	0.68203	0.695000	0.33988	0.0:0.0:0.0:1.0	11.519	0.49789	122	0.95130	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1659.11	34	chr2	96839560	.	T	G	1659.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.439;DP=751;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=0.152;SOR=0.658	GT:AD:DP:GQ:PL	0/1:12,27:39:99:684,0,268	19	0	2	0
chr2	96839755	96839755	T	C	exonic	ANKRD23	.	nonsynonymous SNV	ANKRD23:NM_144994:exon8:c.A794G:p.Y265C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.996	D	0.003	N	1.000	D	1.91	M	-0.16	T	-0.388	T	0.358	T	0.633	3.396	17.46	3.88	0.927	2.601	8.975	0.420	0.0663925972002	.	.	8.774e-06	0	0	0	0	1.593e-05	0	0	6.5e-06	1	154602	rs759673941	2.19e-05	2.257e-05	2.724e-05	1.651e-05	2.518e-05	1.585e-05	1.356e-05	1.746e-05	1.503e-05	0	0	0.0001	0	0	0	2.518e-05	1.656e-05	0	1.971e-05	1.97e-05	2.569e-05	1.345e-05	6.54e-05	5.24e-06	2.45e-06	.	.	2.412e-05	0	6.54e-05	0.0003	0	0	0	0	0	0	0.002	0.72154	D	0.054	0.58089	T	1.0	0.90584	D	0.996	0.84481	D	0.002907	0.35737	N	0.000000	0.958756	0.38091	D	1.95	0.52479	M	-0.16	0.65378	T	-5.91	0.90450	D	0.412	0.57263	-0.3875	0.72420	T	0.358	0.72022	T	10	0.46621186	0.59585	T	0.066393	0.69862	D	0.420	0.72930	0.6	0.73105	0.806157150381	0.80434	0.3354648369992883	0.33459	0.206881179675	0.23125	0.429213643074	0.29101	T	0.119126	0.44044	T	0.0515023	0.58536	T	-0.163797	0.58008	T	0.931529760360718	0.59695	D	0.320668	0.29365	T	0.41761893	0.61933	0.40845516	0.65162	0.41761893	0.61934	0.40845516	0.65162	-4.212	0.26925	T	.	.	0.252	0.54049	B	.;.;.	.;.;.	3.552761	0.49947	22.9	0.99698997564515279	0.80453	0.66088	0.32957	D	AEFDGBHCI	0.301841	0.41025	N	0.353323658687644	0.58914	4.066828	0.274569837241191	0.54059	3.572075	0.99999999679824	0.74766	0.50284	0.20314	0	0.623108	0.53289	0	0.489635	0.07774	0	0.664235	0.64389	0	.	.	5.05	3.88	0.43959	2.087000	0.41277	4.049000	0.41491	0.665000	0.62972	0.985000	0.35982	1.000000	0.68203	0.628000	0.32104	0.0:0.0:0.1865:0.8135	8.975	0.35092	122	0.95130	Ankyrin repeat-containing domain;Ankyrin repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1220.98	34	chr2	96839755	.	T	C	1220.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=802;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=-7.330e-01;SOR=0.690	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1251	20	0	1	0
chr2	96840423	96840423	C	T	exonic	ANKRD23	.	nonsynonymous SNV	ANKRD23:NM_144994:exon5:c.G518A:p.R173Q,	.	.	439	1079	4	0	0	4	0.00185014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.998	D	0.865	P	0.003	N	0.939	D	1.58	L	-0.16	T	-0.458	T	0.326	T	0.247	1.453	10.80	4.1	1.222	-0.562	9.729	0.095	.	.	0.00239617	0.0017	0	8.986e-05	0	0	1.551e-05	0	0.0126	0.0013907	215	154602	rs554610108	0.0008	0.0008	0.0005	0.0012	0.0131	0.0008	0.0008	0.0125	0.0122	0	8.947e-05	0	0	0	0.0003	8.094e-06	0.0009	0.0131	0.0005	0.0005	0.0002	0.0007	0.0147	0.0004	0.0004	0.0119	0.0109	0	0	0	0	0	0	0	1.47e-05	0	0.0147	0.42	0.16738	T	0.425	0.13912	T	0.084	0.73220	B	0.013	0.61524	B	0.002789	0.35935	N	0.000000	0.997687	0.22554	N	0.46	0.12951	N	-0.26	0.67187	T	-1.6	0.38540	N	0.263	0.35194	-0.4577	0.70145	T	0.326	0.69418	T	10	0.011172354	0.00245	T	.	.	.	0.095	0.27398	0.463	0.53242	0.478451964739	0.47474	0.35103474038143506	0.35017	0.184002297361	0.20694	0.328371763229	0.14688	T	0.021856	0.16951	T	-0.462034	0.00955	T	-0.425425	0.30456	T	0.0677572548796233	0.08333	T	0.586041	0.21384	T	0.2189779	0.44419	0.0884062	0.20612	0.2189779	0.44418	0.0884062	0.20612	-4.845	0.35543	T	.	.	0.113	0.25978	B	.;.;.	.;.;.	1.128304	0.15144	11.62	0.99110828737963608	0.52725	0.08987	0.14830	N	AEFBCI	0.042630	0.06638	N	-0.302577848632311	0.29050	1.607577	-0.350615464386239	0.26489	1.464	0.97696156989217	0.29775	0.634777	0.41761	0	0.519925	0.08708	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	4.97	4.1	0.47196	-0.297000	0.08312	-0.660000	0.07985	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.213000	0.22268	0.0:0.9032:0.0:0.0968	9.729	0.39516	121	0.95159	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1105.98	37	chr2	96840423	.	C	T	1105.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.32;DP=803;ExcessHet=0.0000;FS=3.128;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.86;ReadPosRankSum=0.774;SOR=1.145	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1298	20	0	1	0
chr2	96842402	96842402	C	T	exonic	ANKRD23	.	nonsynonymous SNV	ANKRD23:NM_144994:exon2:c.G137A:p.R46Q,	.	.	375	1121	24	2	0	28	0.0123348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.003	B	0.001	B	0.866	N	0.984	D	0.46	N	-0.08	T	-1.074	T	0.079	T	0.057	0.799	8.206	-6.83	-1.283	-1.378	6.77	0.033	0.0136136329658	0.0044	0.00319489	0.0043	0.0018	0.0029	0.0016	0.0005	0.0052	0.0033	0.0064	0.0010673	165	154602	rs143372458	0.0053	0.0053	0.0052	0.0055	0.0336	0.0052	0.0052	0.0298	0.0283	0.0034	0.0040	0.0056	0.0012	0.0009	0.0336	0.0055	0.0061	0.0065	0.0047	0.0047	0.0049	0.0046	0.0071	0.0044	0.0043	0.0066	0.0064	0.0015	0.0351	0.0035	0.0058	0.0014	0.0005	0.0442	0.0071	0.0062	0.0052	0.298	0.14894	T	0.508	0.10893	T	0.003	0.11197	B	0.001	0.04355	B	0.866014	0.08859	N	0.907894	0.999879	0.19925	N	1.525	0.38595	L	-0.29	0.67712	T	0.28	0.05503	N	0.113	0.21449	-1.0743	0.08493	T	0.079	0.31466	T	10	0.004486352	0.00092	T	0.013614	0.33144	T	0.033	0.08068	.	.	0.384252928164	0.38032	0.11811522296144829	0.11738	0.174969425487	0.19695	0.191902413964	0.00260	T	0.011947	0.10582	T	-0.598926	0.00148	T	-0.630342	0.10389	T	0.00180462947194861	0.00018	T	0.49795	0.15494	T	0.025929948	0.01587	0.0338767	0.02356	0.025929948	0.01586	0.0338767	0.02356	-2.884	0.12776	T	.	.	0.093	0.15115	B	.;.;.	.;.;.	-0.280197	0.02706	0.354	0.82545391951555647	0.14248	0.03294	0.08346	N	AEFBCI	0.036542	0.04886	N	-1.64690095529547	0.01048	0.04547421	-1.63492810835428	0.01456	0.0658473	0.999567174860757	0.40425	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	5.07	-6.83	0.01532	-1.346000	0.02741	-3.498000	0.02741	-1.699000	0.00759	0.090000	0.22578	0.000000	0.08366	0.103000	0.18424	0.2379:0.1705:0.0:0.5916	6.77	0.22775	120	0.95183	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2305.11	41	chr2	96842402	.	C	T	2305.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.09;DP=960;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=0.998;SOR=0.714	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	19	0	2	0
chr2	96861135	96861135	C	T	exonic	SEMA4C	.	nonsynonymous SNV	SEMA4C:NM_017789:exon15:c.G1993A:p.V665M,	.	.	0	1507	15	0	0	15	0.00495213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.999	D	0.942	D	0.003	N	0.999	D	0	N	2.12	T	-1.026	T	0.061	T	0.518	2.704	15.00	4.79	2.474	2.343	16.763	0.097	0.00968373380397	0.0013	0.000399361	0.0015	0.0002	0.0010	0	0	0.0023	0.0012	0.0009	0.001326	205	154602	rs145704940	0.0015	0.0015	0.0015	0.0014	0.0043	0.0014	0.0014	0.0030	0.0026	0.0001	0.0010	0.0086	0	7.783e-05	0.0043	0.0015	0.0018	0.0006	0.0011	0.0011	0.0011	0.0012	0.0021	0.0010	0.0009	0.0015	0.0013	0.0003	0.0088	0.0021	0.0066	0	0	0.0034	0.0013	0.0024	0.0004	0.152	0.24468	T	0.293	0.20811	T	0.976	0.58310	D	0.656	0.52685	P	0.002676	0.36137	N	0.000000	0.999046	0.45943	D	0.895	0.22405	L	2.12	0.19726	T	-0.5	0.15782	N	0.382	0.42345	-1.0259	0.21788	T	0.061	0.25455	T	10	0.00953415	0.00215	T	0.009684	0.25290	T	0.097	0.27909	.	.	0.213499824651	0.20940	0.4434375553681654	0.44261	0.428623133953	0.43178	0.7696839571	0.77376	T	0.073317	0.34669	T	-0.439954	0.01294	T	-0.412004	0.31993	T	0.0189556598157604	0.00605	T	0.839216	0.51320	T	0.102813445	0.24296	0.09058367	0.21250	0.102813445	0.24296	0.09058367	0.21249	-6.407	0.49564	T	.	.	0.250	0.48489	B	.	.	3.393932	0.47007	22.4	0.9976531368697239	0.85417	0.82220	0.41481	D	AEFDBCI	0.445626	0.50202	N	0.28218476727881	0.55244	3.689	0.345201311901681	0.58219	3.991192	0.999992891778158	0.74766	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.79	4.79	0.60909	1.197000	0.31819	5.960000	0.51806	0.599000	0.40250	0.599000	0.27739	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	16.763	0.85378	115	0.95340	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	955.98	34	chr2	96861135	.	C	T	955.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=770;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=0.734;SOR=0.657	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1156	20	0	1	0
chr2	96861753	96861753	C	T	exonic	SEMA4C	.	nonsynonymous SNV	SEMA4C:NM_017789:exon13:c.G1585A:p.V529M,	.	.	0	1517	4	1	0	6	0.00197368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.808	P	0.381	B	0.087	N	1.000	N	1.63	L	2.26	T	-1.043	T	0.000	T	0.092	3.370	17.36	-0.075	-0.187	0.609	2.442	0.071	.	7.7e-05	0.0255591	0.0104	0.0008	0.0023	0.1344	0.0002	0.0001	0.0044	0.0025	0.0095988	1484	154602	rs79331914	0.0041	0.0041	0.0042	0.0040	0.1325	0.0040	0.0040	0.1295	0.1283	0.0003	0.0019	0	0.1325	0.0002	0.0002	4.676e-05	0.0062	0.0026	0.0056	0.0056	0.0048	0.0064	0.1456	0.0053	0.0051	0.1370	0.1336	0.0008	0	0.0009	0	0.1456	9.409e-05	0	7.35e-05	0.0047	0.0060	0.113	0.28772	T	0.06	0.45744	T	0.782	0.44333	P	0.381	0.43873	B	0.087278	0.20542	N	0.301246	1	0.08975	N	1.545	0.39105	L	2.26	0.17596	T	-1.03	0.27052	N	0.212	0.23632	-1.0429	0.16443	T	0.000	0.00152	T	10	0.0016003549	0.00019	T	.	.	.	0.071	0.20720	.	.	.	.	0.28134716411572486	0.28047	0.370578501582	0.38572	0.328716754913	0.14739	T	0.109574	0.42356	T	-0.737038	0.00022	T	-0.687661	0.06525	T	0.0269984998289952	0.01544	T	0.777122	0.41012	T	0.034205157	0.03795	0.040132686	0.04266	0.034205157	0.03794	0.040132686	0.04266	-5.785	0.44443	T	.	.	0.104	0.18869	B	.	.	2.480262	0.31981	18.91	0.99516421188153981	0.68979	0.08037	0.14014	N	AEFBCI	0.034359	0.04242	N	-0.4963082972307	0.22201	1.183795	-0.623397178375814	0.18893	1.01128	0.98834267626621	0.31485	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.06	-0.0749	0.13062	0.370000	0.20166	-0.071000	0.12298	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.584000	0.30992	0.1034:0.3398:0.3042:0.2525	2.442	0.04223	115	0.95340	PSI domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2049.11	34	chr2	96861753	.	C	T	2049.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.24;DP=880;ExcessHet=0.1072;FS=0.551;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=1.39;SOR=0.620	GT:AD:DP:GQ:PL	0/1:58,58:116:99:1492,0,1438	19	0	2	0
chr2	96877946	96877946	G	T	exonic	FAM178B	.	nonsynonymous SNV	FAM178B:NM_001172667:exon4:c.C328A:p.L110M	.	.	431	1087	4	0	0	4	0.00183655	.	.	2373938	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	.	.	0.950	N	2.36	M	-0.09	T	-0.456	T	0.461	T	0.49	3.391	17.44	4.33	1.195	1.346	9.749	0.290	0.120034292365	.	0.000199681	0.0001	0	0	0	0	3.059e-05	0	0.0007	9.06e-05	14	154602	rs552281954	5.474e-05	5.472e-05	2.995e-05	7.977e-05	0.0009	4.478e-05	4.148e-05	0.0006	0.0005	0	0	0	0	0	0.0009	7.194e-06	8.28e-05	0.0007	3.281e-05	3.28e-05	5.137e-05	1.342e-05	0.0004	1.26e-05	7.97e-06	7.282e-05	3.026e-05	0	0	0	0	0.0002	0	0	2.939e-05	0	0.0004	0.005	0.65419	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.950386	0.26506	N	.	.	.	-0.09	0.67543	T	-1.87	0.43717	N	0.491	0.52475	-0.4560	0.70201	T	0.461	0.79072	T	9	0.13193017	0.25110	T	0.120034	0.80048	D	0.290	0.60924	.	.	0.507748507896	0.50414	0.33121652795149553	0.33034	0.385509509165	0.39847	0.422740221024	0.28214	T	.	.	.	-0.251698	0.13891	T	-0.21231	0.53473	T	0.398106604814529	0.28871	T	0.687731	0.30552	T	.	.	.	.	.	.	.	.	-6.228	0.48149	T	.	.	0.139	0.34339	B	.;.	.;.	2.895563	0.38363	20.7	0.99563909022103358	0.71953	0.72560	0.35511	D	AEFDBHCIJ	0.441240	0.49947	N	0.324816931444091	0.57425	3.90975	0.268048651721663	0.53683	3.53606	0.999999004128913	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.2	4.33	0.51083	1.463000	0.34887	3.895000	0.40316	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0962:0.0:0.9038:0.0	9.749	0.39633	114	0.95383	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1045.98	35	chr2	96877946	.	G	T	1045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.185e+00;DP=798;ExcessHet=0.0000;FS=0.730;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.60;ReadPosRankSum=-1.337e+00;SOR=0.821	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1296	20	0	1	0
chr2	97091553	97091553	C	T	exonic	FAHD2B	.	nonsynonymous SNV	FAHD2B:NM_001320849:exon2:c.G154A:p.V52I	.	.	422	1063	35	2	0	39	0.0180139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.006	B	0.000	D	0.947	N	0.905	L	1.45	T	-0.984	T	0.017	T	0.116	-0.237	2.855	-1.41	-0.358	1.425	6.207	0.068	0.00173163364902	.	.	0.0042	0.0010	0.0058	0	0.0014	0.0058	0.0033	0.0019	0.000414	64	154602	rs201241480	0.0053	0.0062	0.0055	0.0051	0.0166	0.0052	0.0051	0.0139	0.0129	0.0015	0.0042	0.0102	2.519e-05	0.0015	0.0166	0.0059	0.0061	0.0014	0.0048	0.0049	0.0051	0.0046	0.0078	0.0045	0.0044	0.0067	0.0062	0.0013	0	0.0078	0.0121	0	0.0025	0.0374	0.0067	0.0072	0.0021	0.949	0.02151	T	0.918	0.02891	T	0.004	0.12183	B	0.006	0.12133	B	0.000023	0.55875	D	0.069098	0.94745	0.26600	N	1.745	0.45235	L	1.45	0.32482	T	0.21	0.04776	N	0.2	0.22098	-0.9844	0.33975	T	0.017	0.07140	T	10	0.00686273	0.00156	T	0.001732	0.02908	T	0.068	0.19811	.	.	0.115124310173	0.11017	0.19258797205350334	0.19176	1.16890855372	0.79700	0.578303396702	0.49846	T	0.003811	0.03222	T	-0.270776	0.11670	T	-0.626728	0.10663	T	0.000679144243674442	0.00006	T	0.59684	0.22194	T	0.01966555	0.00501	0.034362644	0.02489	0.01966555	0.00501	0.034362644	0.02489	-3.404	0.15110	T	.	.	0.076	0.06069	B	.;.	.;.	-0.358622	0.02371	0.260	0.2118341943439164	0.00796	0.15989	0.19178	N	AEFI	0.073248	0.14644	N	-1.10502397537055	0.06553	0.301989	-1.13329804189448	0.07071	0.3426243	4.67086552133833E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	0.707	-1.41	0.08473	1.171000	0.31505	-0.204000	0.10916	-1.152000	0.01424	0.795000	0.29657	0.000000	0.08366	0.190000	0.21601	0.0:0.6841:0.3159:0.0	6.207	0.19821	212	0.91760	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1960.98	44	chr2	97091553	.	C	T	1960.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.21;DP=1089;ExcessHet=0.0000;FS=4.884;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=44.12;MQRankSum=-6.071e+00;QD=11.81;ReadPosRankSum=-1.345e+00;SOR=1.049	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,100,1352	20	0	1	0
chr2	97091559	97091559	C	T	exonic	FAHD2B	.	nonsynonymous SNV	FAHD2B:NM_001320849:exon2:c.G148A:p.G50R	.	.	423	1063	34	2	0	38	0.0175601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.025	B	0.013	B	0.063	N	0.693	N	2.07	M	1.51	T	-1.076	T	0.032	T	0.245	1.068	9.361	-0.396	-0.190	2.235	4.755	0.053	0.00185952859811	.	.	0.0042	0.0010	0.0060	0	0.0014	0.0058	0.0033	0.0019	0.000401	62	154602	rs201521399	0.0052	0.0062	0.0053	0.0050	0.0166	0.0051	0.0050	0.0139	0.0129	0.0015	0.0043	0.0104	2.519e-05	0.0016	0.0166	0.0057	0.0058	0.0013	0.0048	0.0049	0.0050	0.0046	0.0077	0.0045	0.0044	0.0065	0.0061	0.0014	0	0.0077	0.0121	0	0.0026	0.0374	0.0066	0.0076	0.0021	0.108	0.29420	T	0.083	0.41405	T	0.025	0.19245	B	0.013	0.16460	B	0.062582	0.22087	N	0.466822	0.692741	0.30176	N	2.465	0.71551	M	1.51	0.30937	T	-3.74	0.71042	D	0.307	0.34659	-1.0756	0.08225	T	0.032	0.13811	T	10	0.006063968	0.00136	T	0.00186	0.03245	T	0.053	0.14996	0.536	0.64585	0.242244723065	0.23846	0.4310816599483757	0.43025	1.64272014905	0.89387	0.510626316071	0.40310	T	0.118203	0.43885	T	-0.182537	0.23358	T	-0.499978	0.22349	T	0.0192758174834097	0.00633	T	0.677032	0.28590	T	0.11903311	0.28036	0.12738456	0.30665	0.11903311	0.28035	0.12738456	0.30664	-3.809	0.20939	T	.	.	0.093	0.16054	B	.;.	.;.	1.691139	0.21548	15.25	0.7587086688925444	0.11243	0.08906	0.14763	N	AEFI	0.076863	0.15473	N	-0.714474486073387	0.15613	0.7884411	-0.804707894553468	0.14382	0.75116	1.70633620179861E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	0.707	-0.396	0.11808	1.903000	0.39488	-0.078000	0.12213	0.181000	0.17804	0.312000	0.25432	0.000000	0.08366	0.384000	0.26424	0.0:0.7212:0.0:0.2788	4.755	0.12452	212	0.91760	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2045.98	44	chr2	97091559	.	C	T	2045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.83;DP=1087;ExcessHet=0.0000;FS=6.002;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=44.89;MQRankSum=-5.428e+00;QD=12.40;ReadPosRankSum=-2.029e+00;SOR=1.117	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,100,1352	20	0	1	0
chr2	97113842	97113842	A	G	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon1:c.A103G:p.R35G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.833	P	0.213	B	.	.	1.000	N	0.79	N	0.65	T	-1.045	T	0.067	T	0.355	0.238	5.287	0.93	0.680	0.771	4.142	0.073	0.00261285730632	.	.	0.0002	0.0002	0	0	0.0002	0.0002	0	0	0.0001358	21	154602	rs759245845	0.0001	0.0001	0.0001	0.0001	0.0014	0.0001	0.0001	0.0007	0.0005	0.0003	0.0003	0	2.551e-05	3.745e-05	0.0014	0.0001	0.0002	0	7.902e-05	7.883e-05	7.718e-05	8.095e-05	0.0001	4.506e-05	3.519e-05	6.806e-05	5.089e-05	4.828e-05	0	0	0	0	0	0	0.0001	0.0005	0	0.337	0.12837	T	0.358	0.39190	T	0.777	0.44168	P	0.213	0.37437	B	.	.	.	.	1	0.08975	N	0.23	0.09627	N	0.65	0.52642	T	-1.77	0.41809	N	0.203	0.32037	-1.0446	0.15942	T	0.067	0.27434	T	9	0.10054904	0.18319	T	0.002613	0.05292	T	0.073	0.21317	0.601	0.73226	0.608471955132	0.60533	.	.	.	.	0.502512216568	0.39178	T	0.006008	0.05450	T	-0.315646	0.07260	T	-0.421881	0.30860	T	0.0393873146329482	0.03579	T	0.29917	0.05580	T	0.039303605	0.05401	0.03576883	0.02892	0.039303605	0.05401	0.03576883	0.02892	-5.786	0.44452	T	.	.	0.147	0.72054	B	.;.;.;.	.;.;.;.	1.322300	0.17263	13.06	0.63000254123948762	0.07108	0.05494	0.11380	N	ALL	0.036451	0.04860	N	-0.801910380187137	0.13261	0.6520485	-0.948205647813828	0.10965	0.5556791	0.999485501106502	0.39952	0.733237	0.96898	0	0.52208	0.09955	0	0.619478	0.44681	0	0.621717	0.48901	0	.	.	0.93	0.93	0.18581	0.999000	0.29358	0.696000	0.20807	0.345000	0.19837	0.431000	0.26416	0.001000	0.17328	0.006000	0.07323	1.0:0.0:0.0:0.0	4.142	0.09663	224	0.91330	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2474.98	35	chr2	97113842	.	A	G	2474.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.410e-01;DP=917;ExcessHet=0.0000;FS=1.680;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.78;MQRankSum=-3.411e+00;QD=11.73;ReadPosRankSum=-8.810e-01;SOR=0.842	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1293	20	0	1	0
chr2	97113864	97113864	A	G	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon1:c.A125G:p.H42R	.	.	0	225	1	0	0	1	0.00221729	.	.	2812124	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.27	T	0.001	B	0.0	B	.	.	1.000	N	-0.51	N	0.64	T	-1.057	T	0.042	T	0.049	-1.282	0.042	-1.86	-0.873	-0.981	1.504	0.051	0.00196642749006	.	0.00179712	0.0004	0.0005	0.0002	0.0017	0.0002	0.0003	0	0.0002	0.0004722	73	154602	rs550176856	0.0005	0.0011	0.0005	0.0006	0.0134	0.0005	0.0005	0.0125	0.0121	0.0007	0.0005	0	0.0134	3.758e-05	0.0019	0.0002	0.0003	0.0001	0.0006	0.0033	0.0005	0.0007	0.0071	0.0005	0.0004	0.0052	0.0046	0.0006	0	0.0002	0	0.0071	9.769e-05	0.0034	0.0003	0.0010	0	0.398	0.10553	T	0.338	0.18125	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.01	0.05129	N	0.64	0.52867	T	0.04	0.06488	N	0.087	0.11769	-1.0569	0.12543	T	0.042	0.17910	T	9	0.008392215	0.00190	T	0.001966	0.03509	T	0.051	0.14325	0.55	0.66576	0.200317383148	0.19677	.	.	.	.	0.634746193886	0.57818	T	0.001207	0.00701	T	-0.636926	0.00087	T	-0.752431	0.03392	T	0.00576444249600172	0.00063	T	0.0746925	0.00546	T	0.02367171	0.01127	0.031856224	0.01835	0.02367171	0.01127	0.031856224	0.01835	-2.695	0.07261	T	.	.	0.075	0.38336	B	.;.;.;.	.;.;.;.	-0.505361	0.01850	0.149	0.2023389317569606	0.00719	0.00988	0.03756	N	AEFDGBHCI	0.034039	0.04148	N	-1.68410191546142	0.00899	0.03893305	-1.75349279002498	0.00920	0.04116796	0.999679299896466	0.41644	0.542737	0.22433	0	0.484254	0.07192	0	0.619478	0.44681	0	0.638787	0.57140	0	.	.	0.93	-1.86	0.07340	-1.920000	0.01662	-11.651000	0.00586	-0.561000	0.04853	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3254:0.2594:0.0:0.4153	1.504	0.02333	224	0.91330	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2572.98	35	chr2	97113864	.	A	G	2572.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.500e-01;DP=907;ExcessHet=0.0000;FS=0.525;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.88;MQRankSum=-5.288e+00;QD=12.80;ReadPosRankSum=-2.083e+00;SOR=0.752	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1293	20	0	1	0
chr2	97118138	97118138	T	C	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon2:c.T272C:p.L91P	.	.	434	1075	12	1	0	14	0.0064695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.991	D	0.306	N	1.000	D	0.805	L	-0.1	T	-0.694	T	0.240	T	0.561	2.284	13.60	1.4	0.893	4.302	4.956	0.356	.	8.5e-05	0.0109824	0.0200	0	0.0018	0.0012	0	0	0.0039	0.0588	0.0028047	73	26028	rs370308910	0.0035	0.0036	0.0019	0.0051	0.0575	0.0034	0.0034	0.0561	0.0555	0.0001	0.0002	0	0.0002	0	0.0014	5.245e-05	0.0044	0.0575	0.0019	0.0020	0.0011	0.0028	0.0602	0.0018	0.0017	0.0545	0.0523	4.815e-05	0	6.561e-05	0	0.0002	0	0	5.883e-05	0	0.0602	0.0	0.91255	D	0.001	0.83351	D	0.996	0.68779	D	0.948	0.68536	D	0.305571	0.14523	N	0.554125	0.993027	0.41813	D	0.705	0.18577	N	-0.1	0.64264	T	-3.35	0.66436	D	0.681	0.75559	-0.6937	0.60735	T	0.240	0.60774	T	10	0.005808383	0.00130	T	.	.	.	0.356	0.67691	.	.	0.480123561213	0.47641	.	.	.	.	0.868635416031	0.92373	D	0.028298	0.20529	T	-0.336724	0.05618	T	-0.215478	0.53172	T	0.0650473898335353	0.07937	T	0.573543	0.20534	T	0.5517775	0.70054	0.51022047	0.71696	0.5517775	0.70055	0.51022047	0.71697	-10.445	0.76531	D	.	.	0.266	0.70767	B	.;.;.;.	.;.;.;.	2.858005	0.37752	20.6	0.98801269973494266	0.46461	0.60759	0.31288	D	AEFBI	0.274415	0.38960	N	-0.180928729133569	0.33929	1.930624	-0.381348690577065	0.25553	1.405975	2.15883818205734E-5	0.03498	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	1.4	1.4	0.21393	4.653000	0.61156	1.969000	0.29978	0.316000	0.19262	0.987000	0.36337	0.033000	0.21346	0.013000	0.09966	0.0:0.0:0.0:1.0	4.956	0.13390	224	0.91330	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2904.98	43	chr2	97118138	.	T	C	2904.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.120e-01;DP=1166;ExcessHet=0.0000;FS=3.347;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=48.05;MQRankSum=-5.160e+00;QD=10.53;ReadPosRankSum=0.068;SOR=0.518	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1303	20	0	1	0
chr2	97185337	97185337	C	-	exonic	ANKRD36	.	frameshift deletion	ANKRD36:NM_001354587:exon29:c.1961delC:p.S655Qfs*12,	.	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402796432	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8326.47	128	chr2	97185336	.	GC	G	8326.47	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-1.019e+00;DP=2996;ExcessHet=30.0624;FS=4.061;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=47.34;MQRankSum=-5.879e+00;QD=3.14;ReadPosRankSum=0.218;SOR=0.380	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,24:143:99:1|0:97185332_A_G:650,0,4906:97185332	3	0	18	0
chr2	97185340	97185340	C	G	exonic	ANKRD36	.	stopgain	ANKRD36:NM_001354587:exon29:c.C1964G:p.S655X,	.	.	497	736	288	1	0	290	0.164586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	3.980	20.4	-2.12	-0.664	0.022	1.483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs961387199	6.861e-07	2.052e-06	1.365e-06	0	2.527e-05	0	0	.	.	0	0	0	2.527e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.289078	0.09729	T	-0.653017	0.08744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant	High;High	2.985359	0.39833	21.0	0.68029575050880731	0.08533	0.00253	0.01392	N	AEFI	0.017170	0.00433	N	-0.957463532196475	0.09526	0.4512341	-1.36962598911469	0.03580	0.1672776	1.88742451027402E-5	0.02871	0.651	0.46895	0	0.633656	0.55848	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	1.06	-2.12	0.06766	-0.027000	0.12319	-1.673000	0.04942	-4.347000	0.00032	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.3106:0.2305:0.0:0.4589	1.483	0.02294	216	0.91608	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4286	8253.51	130	chr2	97185340	.	C	G	8253.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-6.260e-01;DP=3017;ExcessHet=30.0624;FS=4.061;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=47.09;MQRankSum=-5.804e+00;QD=3.07;ReadPosRankSum=0.809;SOR=0.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,25:150:99:1|0:97185332_A_G:673,0,5173:97185332	3	0	18	0
chr2	97185341	97185341	-	G	exonic	ANKRD36	.	frameshift insertion	ANKRD36:NM_001354587:exon29:c.1965_1966insG:p.K656Efs*5,	.	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297719451	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8208.47	129	chr2	97185341	.	A	AG	8208.47	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-5.080e-01;DP=3032;ExcessHet=30.0624;FS=4.061;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=47.00;MQRankSum=-5.688e+00;QD=3.04;ReadPosRankSum=0.926;SOR=0.382	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,25:150:99:1|0:97185332_A_G:673,0,5173:97185332	3	0	18	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8186.47	138	chr2	97185345	.	GTAAT	G	8186.47	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-8.550e-01;DP=3160;ExcessHet=30.0624;FS=4.006;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=46.27;MQRankSum=-5.168e+00;QD=2.89;ReadPosRankSum=1.92;SOR=0.394	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,26:155:99:1|0:97185332_A_G:703,0,5338:97185332	3	0	18	0
chr2	97243939	97243939	T	G	exonic	ANKRD36	.	stopgain	ANKRD36:NM_001354587:exon70:c.T4401G:p.Y1467X,	.	.	588	881	52	1	0	54	0.0297357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	8.385	40	0.182	0.043	-0.165	4.602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs5011471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.121	0.11197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.355057	0.86869	D	0.272239	0.86698	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant	High;High	3.673795	0.52256	23.2	0.98497672860431029	0.42180	0.01706	0.05419	N	AEFI	0.051815	0.09190	N	-0.269925102452034	0.30314	1.689198	-0.691756682915692	0.17165	0.9115637	1.16328131819112E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	0.182	0.14361	-0.369000	0.07588	-3.115000	0.03049	0.340000	0.19754	0.016000	0.19238	0.000000	0.08366	0.001000	0.02609	0.0:0.2029:0.0:0.7971	4.602	0.11751	198	0.92335	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	62.34	35	chr2	97243939	.	T	G	62.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=5.88;DP=990;ExcessHet=0.0000;FS=55.286;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=39.59;MQRankSum=-3.075e+00;QD=0.34;ReadPosRankSum=-2.155e+00;SOR=6.001	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1330	19	0	1	1
chr2	97243941	97243941	G	A	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.G4403A:p.R1468K,	.	.	591	875	55	1	0	57	0.031544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.892	P	0.444	B	.	.	1.000	N	0.805	L	2.34	T	-1.017	T	0.027	T	0.074	0.706	7.766	0.467	0.151	-1.124	5.569	0.007	0.00111599007646	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1436849374	6.883e-07	1.369e-06	0	1.384e-06	9.019e-07	0	0	.	.	0	0	0	0	0	0	9.019e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.33585	T	0.321	0.19073	T	0.188	0.29318	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	1.495	0.37439	L	2.34	0.16351	T	-0.84	0.22944	N	0.124	0.11626	-1.0172	0.24625	T	0.027	0.11618	T	9	0.0719215	0.10666	T	0.001116	0.01336	T	0.007	0.00512	.	.	0.0611884634855	0.05136	.	.	.	.	0.696967959404	0.66706	T	0.002586	0.01974	T	-0.358284	0.04228	T	-0.752427	0.03392	T	0.0658219197223839	0.08052	T	0.567243	0.20104	T	0.05432452	0.10408	0.052856594	0.08789	0.05432452	0.10408	0.052856594	0.08789	.	.	.	.	.	0.151	0.33319	B	.;.	.;.	-0.510566	0.01833	0.146	0.79641931180110503	0.12834	0.00665	0.02874	N	AEFI	0.033355	0.03938	N	-1.01331001360076	0.08327	0.3900481	-1.1679063988186	0.06452	0.310638	1.33660293609482E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	1.4	0.467	0.15933	-0.785000	0.04735	-1.647000	0.04992	-0.644000	0.04415	0.007000	0.17678	0.000000	0.08366	0.000000	0.00833	0.2058:0.0:0.7942:0.0	5.569	0.16468	198	0.92335	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	68.34	35	chr2	97243941	.	G	A	68.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=4.51;DP=991;ExcessHet=0.0000;FS=55.262;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=39.41;MQRankSum=-3.075e+00;QD=0.38;ReadPosRankSum=-1.897e+00;SOR=5.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1330	19	0	1	1
chr2	97243955	97243955	G	A	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.G4417A:p.V1473M,	.	.	590	849	81	2	0	85	0.0476725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.999	D	0.994	D	.	.	1.000	N	0.88	L	2.18	T	-1.030	T	0.064	T	0.062	0.982	9.008	-0.126	-0.032	0.035	5.417	0.057	0.000601302842856	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1464545187	1.381e-06	1.368e-06	1.373e-06	1.389e-06	6.034e-05	2.3e-07	9e-08	9.99e-06	3.74e-06	6.034e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.30515	T	0.072	0.43344	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.625	0.15840	N	2.18	0.18875	T	-0.61	0.18042	N	0.143	0.14338	-1.0301	0.20422	T	0.064	0.26385	T	9	0.118860304	0.22481	T	6.01E-4	0.00274	T	0.057	0.16321	.	.	0.146414634003	0.14194	.	.	.	.	0.764153659344	0.76549	T	0.002011	0.01422	T	-0.348598	0.04816	T	-0.738513	0.03953	T	0.0706987633268221	0.08749	T	0.538946	0.18179	T	0.025526589	0.01501	0.03953559	0.04069	0.025526589	0.01501	0.03953559	0.04069	.	.	.	.	.	0.174	0.38062	B	.;.	.;.	0.916956	0.12915	9.426	0.99162555497301486	0.54155	0.01609	0.05211	N	AEFI	0.021311	0.00936	N	-0.795791736362122	0.13420	0.660932	-0.960271156234613	0.10686	0.5397609	1.09738267022487E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	1.4	-0.126	0.12855	-0.092000	0.11094	-8.711000	0.00925	0.347000	0.19874	0.479000	0.26792	0.000000	0.08366	0.002000	0.04165	0.3289:0.0:0.6711:0.0	5.417	0.15679	198	0.92335	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.075	222.96	35	chr2	97243955	.	G	A	222.96	.	AC=3;AF=0.075;AN=40;BaseQRankSum=3.20;DP=1177;ExcessHet=0.3476;FS=41.095;InbreedingCoeff=-0.0699;MLEAC=2;MLEAF=0.050;MQ=39.34;MQRankSum=-3.236e+00;QD=0.54;ReadPosRankSum=-1.338e+00;SOR=7.476	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1330	17	0	3	1
chr2	97243956	97243956	T	C	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.T4418C:p.V1473A,	.	.	590	847	83	2	0	87	0.048849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.99	D	0.971	D	.	.	1.000	N	1.005	L	2.13	T	-1.031	T	0.062	T	0.071	0.317	5.716	0.197	0.048	-0.313	4.056	0.038	0.000513303010245	.	.	.	.	.	.	.	.	.	.	.	.	.	rs934444205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.24277	T	0.332	0.18449	T	0.023	0.18885	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	2.13	0.19588	T	-1.43	0.35194	N	0.122	0.11340	-1.0309	0.20163	T	0.062	0.25744	T	9	0.12386596	0.23518	T	5.13E-4	0.00163	T	0.038	0.09825	.	.	0.128392430309	0.12331	.	.	.	.	0.778462767601	0.78697	T	0.00501	0.04439	T	-0.342858	0.05193	T	-0.730268	0.04316	T	0.0193876803876741	0.00643	T	0.321068	0.06505	T	0.028899712	0.02298	0.036257796	0.03036	0.028899712	0.02298	0.036257796	0.03036	.	.	.	.	.	0.206	0.43269	B	.;.	.;.	-0.260122	0.02797	0.383	0.6572940365307649	0.07855	0.01765	0.05546	N	AEFI	0.022039	0.01053	N	-0.814270253956863	0.12945	0.6343988	-0.97458338646845	0.10358	0.5211802	1.10007016109811E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	1.4	0.197	0.14443	-0.334000	0.07927	-2.096000	0.04219	-0.627000	0.04526	0.469000	0.26714	0.000000	0.08366	0.002000	0.04165	0.0:0.4538:0.0:0.5462	4.056	0.09296	198	0.92335	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05	264.43	35	chr2	97243956	.	T	C	264.43	.	AC=2;AF=0.050;AN=40;BaseQRankSum=4.83;DP=1175;ExcessHet=0.1128;FS=41.232;InbreedingCoeff=-0.0650;MLEAC=2;MLEAF=0.050;MQ=39.27;MQRankSum=-3.225e+00;QD=0.90;ReadPosRankSum=-1.126e+00;SOR=6.091	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1330	18	0	2	1
chr2	97243965	97243965	C	A	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.C4427A:p.P1476Q,	.	.	591	842	87	2	0	91	0.0512676	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	.	.	1.000	N	-1.815	N	2.52	T	-0.941	T	0.006	T	0.101	-1.688	0.012	0.145	0.033	0.804	2.431	0.044	0.000600742623665	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879789998	6.907e-07	6.843e-07	0	1.389e-06	2.324e-05	0	0	.	.	0	2.324e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	0.01938	T	0.828	0.03739	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.445	0.00556	N	2.52	0.14160	T	4.39	0.00039	N	0.233	0.26233	-0.9411	0.42442	T	0.006	0.02093	T	9	0.030890793	0.01219	T	6.01E-4	0.00274	T	0.044	0.11924	.	.	0.0401082797425	0.02173	.	.	.	.	0.80995708704	0.83485	D	0.007683	0.07071	T	-0.355694	0.04379	T	-0.748706	0.03536	T	0.0436866157378679	0.04362	T	0.315568	0.06252	T	0.02105173	0.00688	0.043300506	0.05356	0.02105173	0.00688	0.043300506	0.05356	.	.	.	.	.	0.071	0.03925	B	.;.	.;.	0.290474	0.06670	3.169	0.19759172413942741	0.00681	0.00555	0.02537	N	AEFI	0.011953	0.00118	N	-1.76782903256606	0.00629	0.02711347	-1.6686180707587	0.01283	0.05784733	1.10704589977209E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	1.4	0.145	0.14124	1.831000	0.38781	2.064000	0.30409	-0.484000	0.05061	0.987000	0.36337	0.011000	0.20116	0.002000	0.04165	0.4439:0.2817:0.0:0.2744	2.431	0.04199	198	0.92335	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.125	754.31	35	chr2	97243965	.	C	A	754.31	.	AC=5;AF=0.125;AN=40;BaseQRankSum=2.65;DP=1587;ExcessHet=1.2264;FS=21.000;InbreedingCoeff=-0.1429;MLEAC=5;MLEAF=0.125;MQ=39.13;MQRankSum=-3.457e+00;QD=1.01;ReadPosRankSum=-7.390e-01;SOR=2.842	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1330	15	0	5	1
chr2	97243982	97243982	A	G	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.A4444G:p.K1482E,	.	.	594	783	141	4	0	149	0.0868805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.996	D	0.981	D	.	.	1.000	N	1.04	L	2.27	T	-1.043	T	0.055	T	0.127	0.368	5.998	0.142	0.033	0.116	4.893	0.034	0.000813122360056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879765967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.647	0.06812	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	2.27	0.17431	T	-1.46	0.35792	N	0.191	0.20925	-1.0431	0.16383	T	0.055	0.23375	T	9	0.088907	0.15351	T	8.13E-4	0.00649	T	0.034	0.08419	.	.	0.0482279557977	0.04254	.	.	.	.	0.827668607235	0.86205	D	0.021647	0.16823	T	-0.288376	0.09799	T	-0.652008	0.08814	T	0.0863367564439753	0.10777	T	0.369363	0.08678	T	0.08514416	0.19738	0.10756626	0.25897	0.08514416	0.19737	0.10756626	0.25896	.	.	.	.	.	0.159	0.35183	B	.;.	.;.	0.562033	0.09308	6.087	0.3763639411248757	0.02492	0.01858	0.05739	N	AEFI	0.031364	0.03344	N	-1.15756630415575	0.05656	0.2584313	-1.32943360964929	0.04054	0.1904441	1.15881377853183E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	0.142	0.14111	0.033000	0.13642	-8.971000	0.00886	-0.471000	0.05090	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.8106:0.0:0.1894:0.0	4.893	0.13094	198	0.92335	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.25	2721.84	153	chr2	97243982	.	A	G	2721.84	.	AC=10;AF=0.250;AN=40;BaseQRankSum=1.96;DP=2009;ExcessHet=6.5132;FS=12.145;InbreedingCoeff=-0.3324;MLEAC=10;MLEAF=0.250;MQ=38.40;MQRankSum=-3.421e+00;QD=1.82;ReadPosRankSum=0.177;SOR=1.340	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1330	10	0	10	1
chr2	97243989	97243989	C	T	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.C4451T:p.A1484V,	.	.	603	769	146	4	0	154	0.0910165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.566	P	0.11	B	.	.	1.000	N	-0.695	N	2.35	T	-1.001	T	0.013	T	0.162	0.638	7.428	-0.226	0.036	-0.164	4.757	0.009	0.00106584311882	.	.	4.541e-05	0	0	0	0	0	0	0.0003	3.84e-05	1	26028	rs879638068	2.069e-06	1.163e-05	2.744e-06	1.387e-06	3.54e-05	5.5e-07	1.5e-07	9.4e-06	4.61e-06	0	0	0	0	0	0	0	0	3.54e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.19430	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.35	0.16217	T	1.55	0.00694	N	0.16	0.16725	-1.0012	0.29574	T	0.013	0.05129	T	9	0.043822676	0.03272	T	0.001066	0.01215	T	0.009	0.00846	.	.	0.0138822411134	0.00435	.	.	.	.	0.738302230835	0.72722	T	0.006193	0.05627	T	-0.286201	0.10021	T	-0.648885	0.09033	T	0.0436484596629869	0.04357	T	0.352565	0.07917	T	0.018949645	0.00419	0.03829343	0.03666	0.018949645	0.00418	0.03829343	0.03665	.	.	.	.	.	0.116	0.23255	B	.;.	.;.	0.661907	0.10304	7.035	0.93505387120157391	0.23315	0.00023	0.00238	N	AEFI	0.010700	0.00081	N	-1.46380150830159	0.02111	0.09285368	-1.52457588063721	0.02156	0.09874057	1.16333637191878E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	-0.226	0.12460	0.981000	0.29124	-0.502000	0.08796	-1.926000	0.00503	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.0:0.1981:0.0:0.8019	4.757	0.12464	198	0.92335	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.25	3278.89	148	chr2	97243989	.	C	T	3278.89	.	AC=10;AF=0.250;AN=40;BaseQRankSum=0.381;DP=2004;ExcessHet=6.5132;FS=9.348;InbreedingCoeff=-0.3333;MLEAC=10;MLEAF=0.250;MQ=38.06;MQRankSum=-3.253e+00;QD=2.26;ReadPosRankSum=0.655;SOR=1.076	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1330	10	0	10	1
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V,	.	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	66907.47	297	chr2	97513220	.	G	A	66907.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-8.080e-01;DP=4067;ExcessHet=51.1880;FS=3.353;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=36.93;MQRankSum=-3.978e+00;QD=16.47;ReadPosRankSum=0.728;SOR=0.964	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,89:152:99:0|1:97513219_T_C:3547,0,2377:97513219	0	0	20	1
chr2	97513227	97513227	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2758G:p.K920E,	.	.	611	640	249	22	0	293	0.186268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0214	0.0529	0.0036	0	0.0702	0.0066	0.0682	0.0028	3.84e-05	1	26028	rs79390266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05707	T	0.544	0.37968	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.12	0.33250	.	.	.	.	.	.	.	0.0055945516	0.00124	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.003989330973675759	0.00373	.	.	0.735671639442	0.72336	T	0.033889	0.23100	T	-0.112291	0.34391	T	-0.399074	0.33492	T	.	.	.	0.369363	0.08678	T	0.05957855	0.12126	0.07929396	0.17837	0.05957855	0.12126	0.07929396	0.17837	-5.258	0.39526	T	.	.	0.142	0.33086	B	.;.;.	.;.;.	1.364301	0.17734	13.34	0.46228864402172176	0.03687	0.02246	0.06510	N	AEFI	.	.	.	.	.	.	.	.	.	4.68263816856013E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.103977	0.22772	1.25	1.25	0.20475	-0.034000	0.12176	-6.769000	0.01311	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.615	0.21965	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.5	72691.47	317	chr2	97513227	.	T	C	72691.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.090e-01;DP=4346;ExcessHet=51.1880;FS=3.354;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.18;MQRankSum=-4.153e+00;QD=17.02;ReadPosRankSum=0.711;SOR=0.962	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,96:164:99:0|1:97513219_T_C:3786,0,2546:97513219	0	0	20	1
chr2	97513244	97513244	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2741A:p.P914Q,	.	.	595	624	272	31	0	334	0.211125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0143	0	0	0	0.0016	0	0	3.84e-05	1	26028	rs79527710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.445	0.00556	N	.	.	.	.	.	.	0.188	0.27435	.	.	.	.	.	.	.	0.0063654184	0.00144	T	.	.	.	.	.	.	.	0.320256813643	0.31633	0.004245720093313631	0.00398	.	.	0.703683018684	0.67677	T	0.006209	0.05647	T	-0.125373	0.32247	T	-0.417866	0.31321	T	.	.	.	0.315568	0.06252	T	0.023773897	0.01146	0.07268516	0.15708	0.023773897	0.01146	0.07268516	0.15708	0.674	0.00180	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	-0.119120	0.03530	0.672	0.19522481671669692	0.00662	0.00471	0.02257	N	AEFI	.	.	.	.	.	.	.	.	.	1.11447686844719E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0495094	0.09020	1.25	-0.0318	0.13235	0.839000	0.27239	1.716000	0.28228	-0.610000	0.04588	0.997000	0.40164	0.949000	0.28973	0.001000	0.02609	0.2806:0.0:0.2874:0.432	2.311	0.03930	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.5	88962.47	372	chr2	97513244	.	G	T	88962.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.332e+00;DP=4960;ExcessHet=51.1880;FS=2.480;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.54;MQRankSum=-4.334e+00;QD=17.98;ReadPosRankSum=0.505;SOR=0.892	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,109:186:99:0|1:97513244_G_T:4345,0,2865:97513244	0	0	20	1
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A,	.	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.5	94248.47	391	chr2	97513253	.	A	G	94248.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.477e+00;DP=5204;ExcessHet=51.1880;FS=3.201;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.63;MQRankSum=-4.517e+00;QD=18.31;ReadPosRankSum=-7.500e-02;SOR=0.940	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,117:197:99:0|1:97513244_G_T:4672,0,3007:97513244	0	0	20	1
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M,	.	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.5	94578.47	389	chr2	97513254	.	C	T	94578.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.107e+00;DP=5218;ExcessHet=51.1880;FS=3.233;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.64;MQRankSum=-4.596e+00;QD=18.37;ReadPosRankSum=8.000e-03;SOR=0.948	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,117:197:99:0|1:97513244_G_T:4672,0,3007:97513244	0	0	20	1
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K,	.	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	103442.47	407	chr2	97513268	.	C	T	103442.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-9.430e-01;DP=5451;ExcessHet=51.1880;FS=3.211;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.99;MQRankSum=-5.011e+00;QD=19.09;ReadPosRankSum=-6.100e-01;SOR=0.929	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,117:201:99:0|1:97513268_C_T:4639,0,3175:97513268	0	0	20	1
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X,	.	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	89883.47	410	chr2	97513270	.	A	C	89883.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-5.910e-01;DP=5493;ExcessHet=51.1880;FS=3.209;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=38.11;MQRankSum=-4.823e+00;QD=16.38;ReadPosRankSum=-7.770e-01;SOR=0.939	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,119:203:99:0|1:97513268_C_T:4688,0,3169:97513268	0	0	20	1
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C,	.	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	104689.47	413	chr2	97513271	.	T	C	104689.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-5.750e-01;DP=5492;ExcessHet=51.1880;FS=3.187;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=38.14;MQRankSum=-5.077e+00;QD=19.08;ReadPosRankSum=-6.500e-01;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,118:202:99:0|1:97513268_C_T:4666,0,3172:97513268	0	0	20	1
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K,	.	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	105794.47	411	chr2	97513281	.	C	T	105794.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.198e+00;DP=5582;ExcessHet=51.1880;FS=2.445;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=38.48;MQRankSum=-5.580e+00;QD=19.09;ReadPosRankSum=-8.110e-01;SOR=0.890	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,121:205:99:0|1:97513268_C_T:4696,0,3143:97513268	0	0	20	1
chr2	97513354	97513354	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2631G:p.I877M,	.	.	663	628	207	24	0	255	0.168762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4962	0.4838	0.4975	0.4959	0.5008	0.4970	0.4959	0.4971	0.0692716	1803	26028	rs879259208	1.426e-06	2.057e-06	1.417e-06	1.436e-06	9.218e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.218e-07	1.742e-05	0	3.782e-05	4.181e-05	5.896e-05	1.554e-05	0.0004	1.406e-05	9.03e-06	0.0001	9.02e-05	0	0	0.0004	0	0	0	0	0	0	0	.	.	.	0.093	0.39799	T	0.563	0.38396	P	0.061	0.26820	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.086	0.34120	.	.	.	.	.	.	.	0.00250566	0.00038	T	.	.	.	.	.	.	.	.	.	0.005410322706841144	0.00512	.	.	0.634645044804	0.57804	T	0.046049	0.27308	T	-0.0562864	0.43486	T	-0.318628	0.42725	T	.	.	.	0.682432	0.29103	T	0.06877274	0.15009	0.14055093	0.33500	0.06877274	0.15009	0.14055093	0.33499	-5.398	0.40900	T	.	.	0.175	0.41387	B	.;.;.	.;.;.	2.260359	0.28881	17.94	0.78590890435183058	0.12367	0.19138	0.20543	N	AEFI	.	.	.	.	.	.	.	.	.	1.43761767599795E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.223356	0.04673	0	0.0910582	0.20564	1.4	1.4	0.21393	0.366000	0.20099	-0.250000	0.10515	0.334000	0.19664	0.995000	0.38783	0.000000	0.08366	0.026000	0.12556	0.3508:0.0:0.0:0.6492	3.561	0.07435	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	27196.47	224	chr2	97513354	.	T	C	27196.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=1.66;DP=3353;ExcessHet=51.1880;FS=1.191;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=39.44;MQRankSum=-3.474e+00;QD=8.44;ReadPosRankSum=0.663;SOR=0.624	GT:AD:DP:GQ:PL	0/1:74,50:124:99:1100,0,1827	0	0	20	1
chr2	97580547	97580547	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon4:c.C472T:p.L158F,	.	.	457	1062	3	0	0	3	0.00141044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0112	0.0113818	0.0041	0.0384	0.0049	0	0	0.0001	0.0083	0	0.0035731	93	26028	rs2922614	0.0009	0.0009	0.0010	0.0008	0.0328	0.0009	0.0009	0.0311	0.0305	0.0328	0.0019	0	2.819e-05	0	0.0014	5.213e-05	0.0020	0.0004	0.0090	0.0090	0.0093	0.0088	0.0313	0.0086	0.0085	0.0299	0.0293	0.0313	0	0.0037	0	0	0	0	0.0001	0.0052	0.0002	.	.	.	0.277	0.21880	T	0.008	0.14655	B	0.004	0.10090	B	.	.	.	.	.	.	.	1.845	0.48678	L	.	.	.	.	.	.	0.342	0.39153	.	.	.	.	.	.	.	0.008234829	0.00187	T	.	.	.	.	.	.	.	0.248417906384	0.24464	0.5369368201188645	0.53618	.	.	0.837342858315	0.87688	D	0.024045	0.18245	T	-0.437594	0.01336	T	-0.375588	0.36237	T	.	.	.	0.562144	0.19728	T	0.049366586	0.08753	0.08158674	0.18552	0.049366586	0.08753	0.08158674	0.18551	-6.556	0.50716	T	.	.	0.372	0.59296	A	.;.	.;.	1.404497	0.18190	13.60	0.5292917733810556	0.04841	0.10131	0.15721	N	AEFI	.	.	.	.	.	.	.	.	.	9.0821358323059E-6	0.01202	0.163922	0.03765	0	0.18701	0.04157	0	0.083675	0.02720	0	0.24341	0.04801	0	0.0489367	0.08445	1.64	-0.407	0.11768	0.999000	0.29358	-0.460000	0.09044	-0.739000	0.03678	0.858000	0.30578	0.000000	0.08366	0.001000	0.02609	0.1931:0.2888:0.5181:0.0	3.016	0.05694	387	0.83408	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1186.98	38	chr2	97580547	.	G	A	1186.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.850e-01;DP=918;ExcessHet=0.0000;FS=0.664;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.50;MQRankSum=-7.361e+00;QD=9.20;ReadPosRankSum=-1.094e+00;SOR=0.768	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr2	97757299	97757299	G	A	exonic	TMEM131	.	nonsynonymous SNV	TMEM131:NM_015348:exon41:c.C5452T:p.P1818S,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.976	D	0.797	P	0.000	D	1.000	D	0.895	L	1.29	T	-1.048	T	0.129	T	0.563	3.682	18.71	5.34	2.783	5.547	19.231	0.128	0.00847291676707	.	0.000399361	0.0003	0	0	0	0	1.499e-05	0	0.0021	0.0002458	38	154602	rs199691225	0.0002	0.0002	9.257e-05	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	2.987e-05	0	0	2.519e-05	0	0.0003	1.259e-05	0.0002	0.0027	7.226e-05	7.218e-05	2.57e-05	0.0001	0.0019	3.97e-05	3.126e-05	0.0010	0.0007	0	0	6.535e-05	0	0	0	0	1.47e-05	0	0.0019	0.123	0.27544	T	0.331	0.18505	T	0.911	0.50336	P	0.311	0.41430	B	0.000000	0.84330	D	0.053112	0.999697	0.48338	D	1.04	0.26193	L	1.29	0.35775	T	-1.62	0.38924	N	0.259	0.29313	-1.0479	0.14988	T	0.129	0.43726	T	10	0.01375708	0.00291	T	0.008473	0.22407	T	0.128	0.35103	0.243	0.17677	0.043077524339	0.03247	0.42773947119723416	0.42690	0.767015281994	0.64561	0.530368685722	0.43086	T	0.030507	0.21607	T	-0.379642	0.03132	T	-0.323963	0.42138	T	0.070930227637291	0.08781	T	0.847515	0.52873	T	0.12634112	0.29595	0.17081289	0.39218	0.12634112	0.29595	0.17081289	0.39217	-3.571	0.17438	T	.	.	0.112	0.21877	B	.	.	3.823922	0.55237	23.6	0.99883688236942314	0.95892	0.95943	0.66827	D	AEFDGBI	0.397151	0.47334	N	0.320211085772663	0.57188	3.885121	0.351080248905525	0.58572	4.028609	0.999999954536894	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.34	5.34	0.75982	5.539000	0.66909	9.930000	0.82573	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.862000	0.40904	0.0:0.0:1.0:0.0	19.231	0.93826	456	0.79013	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1280.98	34	chr2	97757299	.	G	A	1280.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=791;ExcessHet=0.0000;FS=5.399;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.08;ReadPosRankSum=0.622;SOR=0.330	GT:AD:DP:GQ:PL	0/1:41,50:91:99:1295,0,981	20	0	1	0
chr2	97757380	97757380	C	T	exonic	TMEM131	.	nonsynonymous SNV	TMEM131:NM_015348:exon41:c.G5371A:p.V1791I,	.	.	433	1078	10	1	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.001	N	1.000	D	-0.895	N	1.81	T	-0.935	T	0.016	T	0.035	-0.800	0.675	0.049	-0.069	1.227	9.606	0.059	.	7.9e-05	0.00958466	0.0060	0.0002	0.0006	0.0001	0	4.601e-05	0.0036	0.0544	0.0053233	823	154602	rs375340921	0.0028	0.0028	0.0015	0.0041	0.0446	0.0027	0.0027	0.0434	0.0429	9.079e-05	0.0002	0	0.0001	0	0.0013	4.374e-05	0.0033	0.0446	0.0015	0.0015	0.0010	0.0020	0.0450	0.0013	0.0013	0.0401	0.0382	4.813e-05	0	0	0	0.0002	0	0	5.88e-05	0	0.0450	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.001310	0.39449	N	0.282734	0.999998	0.08975	N	-1.04	0.01097	N	1.81	0.25182	T	-0.04	0.07590	N	0.06	0.03175	-0.9346	0.43455	T	0.016	0.06711	T	10	0.0021290183	0.00031	T	.	.	.	0.059	0.16972	.	.	0.043077524339	0.03247	0.09901463290842623	0.09832	0.155818610518	0.17585	0.309757143259	0.11871	T	0.009482	0.08629	T	-0.720329	0.00027	T	-0.773899	0.02642	T	0.00099974737433619	0.00010	T	0.727127	0.34152	T	0.01610997	0.00176	0.027419768	0.00894	0.01610997	0.00176	0.027419768	0.00894	-3.553	0.17182	T	.	.	0.056	0.00452	B	.	.	-0.345232	0.02425	0.274	0.61132336242171148	0.06633	0.07286	0.13308	N	AEFBI	0.039924	0.05867	N	-1.17805842362029	0.05332	0.2428373	-1.00739577338861	0.09622	0.4797542	0.667410602116205	0.22337	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.48	0.049	0.13601	1.155000	0.31311	0.473000	0.18731	-0.192000	0.09343	0.849000	0.30428	0.192000	0.23504	0.629000	0.32131	0.0:0.2848:0.0:0.7152	9.606	0.38799	456	0.79013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	767.98	32	chr2	97757380	.	C	T	767.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.731;DP=732;ExcessHet=0.0000;FS=1.200;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.36;ReadPosRankSum=0.098;SOR=0.993	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr2	97792455	97792455	C	T	exonic	TMEM131	.	nonsynonymous SNV	TMEM131:NM_015348:exon31:c.G4075A:p.D1359N,	.	.	428	1084	10	0	0	10	0.00459137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.826	P	0.157	B	0.001	N	0.000	P	1.735	L	2.14	T	-1.008	T	0.000	T	0.056	4.155	21.5	5.11	2.873	5.550	16.828	0.122	.	0.0004	0.0325479	0.0140	0.0014	0.0007	0.1511	0	0.0002	0.0035	0.0207	0.0123349	1907	154602	rs75972274	0.0055	0.0055	0.0051	0.0059	0.1467	0.0054	0.0053	0.1436	0.1423	0.0004	0.0002	3.834e-05	0.1467	0	0.0028	9.896e-05	0.0067	0.0188	0.0062	0.0063	0.0050	0.0075	0.1477	0.0059	0.0058	0.1390	0.1355	0.0010	0	0.0005	0.0003	0.1477	0	0	0.0001	0.0014	0.0256	0.004	0.65419	D	0.044	0.49663	D	0.826	0.45919	P	0.157	0.34536	B	0.001468	0.38917	N	0.305164	8.39516e-06	0.58761	P	1.955	0.52871	M	2.14	0.19450	T	-1.36	0.33798	N	0.118	0.10769	-1.0083	0.27448	T	0.000	0.00039	T	9	0.0014384389	0.00016	T	.	.	.	0.122	0.33800	.	.	.	.	0.2210515435222665	0.22020	0.226351178264	0.25190	0.478938817978	0.35910	T	0.014362	0.12243	T	-0.678437	0.00049	T	-0.605027	0.12392	T	0.019673624114104	0.00670	T	0.925008	0.72455	D	0.12665689	0.29659	0.11204181	0.27031	0.12665689	0.29659	0.11204181	0.27030	-3.701	0.19333	T	.	.	0.122	0.25331	B	.	.	4.134765	0.61898	24.4	0.99896599639781924	0.96971	0.99096	0.91166	D	AEFDBI	0.670411	0.63750	D	0.399895532990248	0.61418	4.342494	0.503368609192814	0.68216	5.189607	0.999996703599458	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.04	5.11	0.69188	5.624000	0.67440	4.811000	0.45042	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.8717:0.1283:0.0	16.828	0.85800	459	0.78817	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2522.98	35	chr2	97792455	.	C	T	2522.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.170;DP=922;ExcessHet=0.0000;FS=1.712;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=1.96;SOR=0.613	GT:AD:DP:GQ:PL	0/1:93,109:202:99:2537,0,2022	20	0	1	0
chr2	98093151	98093151	G	T	exonic	VWA3B	.	nonsynonymous SNV	VWA3B:NM_144992:exon2:c.G59T:p.G20V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.923	P	0.504	P	0.028	N	1.000	N	1.735	L	1.1	T	-1.039	T	0.099	T	0.263	1.751	11.82	1.13	0.424	0.769	6.688	0.019	0.0196985629577	.	.	4.97e-05	0.0001	0	0	0	7.494e-05	0	0	5.82e-05	9	154602	rs767894805	2.599e-05	2.599e-05	2.042e-05	3.163e-05	0.0003	1.932e-05	1.692e-05	0.0002	0.0001	0.0003	0.0001	0	0	0	0.0003	1.619e-05	3.312e-05	0	6.574e-06	6.567e-06	1.285e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.04	0.42199	D	0.092	0.39954	T	0.875	0.48103	P	0.357	0.43052	B	0.027979	0.25675	N	0.331335	1	0.08975	N	1.87	0.49600	L	1.1	0.39050	T	-2.68	0.57275	D	0.284	0.32148	-1.0388	0.17678	T	0.099	0.36907	T	10	0.10365063	0.19067	T	0.019699	0.42129	T	0.019	0.03383	0.309	0.28128	0.306695030598	0.30287	0.21810984399538694	0.21726	0.32927522572	0.35035	0.247609481215	0.03520	T	0.006633	0.06057	T	-0.297761	0.08873	T	-0.483961	0.24026	T	0.133130088448524	0.15669	T	0.60094	0.22456	T	0.09744343	0.22970	0.13569114	0.32482	0.09744343	0.22970	0.13569114	0.32481	-3.284	0.13532	T	.	.	0.090	0.12797	B	.	.	0.735265	0.11045	7.700	0.96294401840345523	0.29325	0.17426	0.19832	N	AEFGBI	0.114719	0.22585	N	-0.391495048306636	0.25771	1.401456	-0.554265728660297	0.20693	1.116025	0.078380256248544	0.15786	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.22	1.13	0.19758	1.085000	0.30452	0.620000	0.20121	0.662000	0.56354	0.009000	0.18154	0.058000	0.21979	0.161000	0.20682	0.1622:0.2754:0.5623:0.0	6.688	0.22347	460	0.78750	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1814.98	34	chr2	98093151	.	G	T	1814.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.060e-01;DP=789;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.29;ReadPosRankSum=-5.070e-01;SOR=0.646	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1232	20	0	1	0
chr2	98211985	98211985	A	C	exonic	VWA3B	.	nonsynonymous SNV	VWA3B:NM_001345864:exon7:c.A764C:p.E255A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.965	D	0.647	P	0.022	N	0.846	N	0.69	N	3.09	T	-1.040	T	0.084	T	0.351	1.585	11.25	4.38	2.272	3.031	9.944	0.122	0.00792282448057	.	.	8.281e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs749688577	6.841e-06	6.84e-06	8.167e-06	5.5e-06	8.993e-06	3.46e-06	2.52e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.993e-06	0	0	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.355	0.12109	T	0.134	0.34241	T	0.163	0.28433	B	0.111	0.31539	B	0.021933	0.26734	N	0.389844	0.846236	0.28561	N	1.36	0.34107	L	3.09	0.08371	T	-3.29	0.65742	D	0.532	0.56058	-1.0395	0.17465	T	0.084	0.32900	T	10	0.23802751	0.40915	T	0.007923	0.21007	T	0.122	0.33800	0.482	0.56302	0.245101548738	0.24120	0.4016992162050483	0.40085	0.11145778374	0.12582	0.46945348382	0.34605	T	0.019176	0.15329	T	-0.233524	0.16186	T	-0.509572	0.21359	T	0.256596714258194	0.23166	T	0.823018	0.48339	T	0.18281245	0.39518	0.1913099	0.42583	0.18281245	0.39518	0.1913099	0.42582	-6.84	0.52856	T	.	.	0.196	0.41768	B	.	.	2.732059	0.35759	19.98	0.97486868502096946	0.34219	0.84942	0.44038	D	AEFBI	0.427832	0.49161	N	0.0252121679103654	0.43003	2.601921	0.0919391673383232	0.44143	2.701741	4.77207609733419E-4	0.07095	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.55	4.38	0.52019	2.703000	0.46778	4.923000	0.46060	0.680000	0.82399	1.000000	0.71638	1.000000	0.68203	0.600000	0.31387	0.9172:0.0:0.0828:0.0	9.944	0.40769	450	0.79359	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	681.98	36	chr2	98211985	.	A	C	681.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.490;DP=811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.58;ReadPosRankSum=-8.110e-01;SOR=0.725	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1247	20	0	1	0
chr2	98312294	98312294	C	T	exonic	VWA3B	.	nonsynonymous SNV	VWA3B:NM_001345864:exon22:c.C2801T:p.T934I	.	.	427	1060	35	0	0	35	0.0162413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.261	B	0.094	B	.	.	1.000	N	0.55	N	3.33	T	-0.944	T	0.002	T	0.159	1.030	9.208	1.25	0.262	0.195	9.877	0.067	.	0.0048	0.0129792	0.0115	0.0006	0.0036	0.0503	0.0153	0.0094	0.0078	0.0106	0.0111836	1729	154602	rs2271038	0.0098	0.0098	0.0096	0.0100	0.0573	0.0097	0.0096	0.0554	0.0546	0.0008	0.0048	0.0036	0.0573	0.0130	0.0121	0.0084	0.0087	0.0125	0.0075	0.0075	0.0067	0.0083	0.0493	0.0071	0.0070	0.0444	0.0424	0.0010	0	0.0057	0.0049	0.0493	0.0118	0.0034	0.0080	0.0066	0.0112	0.072	0.34982	T	0.533	0.11371	T	0.261	0.31520	B	0.094	0.30180	B	.	.	.	.	1	0.08975	N	1.245	0.31408	L	3.33	0.06138	T	-0.53	0.16393	N	0.096	0.07673	-0.9435	0.42057	T	0.002	0.00556	T	9	0.0029001534	0.00046	T	.	.	.	0.067	0.19503	.	.	.	.	0.13017953049751194	0.12942	0.0882361222215	0.09970	0.298939734697	0.10243	T	0.001721	0.01148	T	-0.652809	0.00070	T	-0.667996	0.07738	T	0.0027483472469388	0.00029	T	0.49475	0.15329	T	0.028671041	0.02240	0.04810641	0.07073	0.034224115	0.03797	0.04810641	0.07073	-4.321	0.29435	T	.	.	0.101	0.23605	B	.;.	.;.	0.346239	0.07195	3.786	0.94490893941064569	0.24956	0.06785	0.12808	N	AEFDGBCI	0.045352	0.07407	N	-0.997441856833061	0.08659	0.4068055	-1.04821465623484	0.08744	0.4314253	0.013013184112008	0.12404	0.497415	0.19182	0	0.563428	0.19063	0	0.48864	0.07692	0	0.542086	0.14980	0	.	.	4.28	1.25	0.20475	0.293000	0.18785	-0.402000	0.09404	-0.223000	0.07921	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5643:0.4357:0.0:0.0	9.877	0.40380	434	0.80536	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3416.11	36	chr2	98312294	.	C	T	3416.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.255;DP=994;ExcessHet=0.1072;FS=4.228;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=1.60;SOR=0.952	GT:AD:DP:GQ:PL	0/1:64,81:145:99:2239,0,1691	19	0	2	0
chr2	98396476	98396476	C	T	exonic	CNGA3	.	nonsynonymous SNV	CNGA3:NM_001079878:exon7:c.C1252T:p.R418W	Achromatopsia 2, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	24521	not_provided|Retinal_dystrophy|Achromatopsia|Achromatopsia_2	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|Human_Phenotype_Ontology:HP:0011516,MONDO:MONDO:0018852,MedGen:C0152200,Orphanet:49382|MONDO:MONDO:0009003,MedGen:C1857618,OMIM:216900,Orphanet:49382	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	A	3.71	H	-4.4	D	1.137	D	0.958	D	0.977	2.389	13.95	3.96	1.243	1.463	11.444	0.858	0.442367690163	0.0002	0.000199681	9.122e-05	9.787e-05	0	0.0001	0	4.527e-05	0	0.0004	7.76e-05	12	154602	rs104893621	6.978e-05	7.046e-05	6.398e-05	7.564e-05	0.0003	5.847e-05	5.457e-05	0.0002	0.0002	8.961e-05	0	0.0003	0.0001	0	0	5.126e-05	3.312e-05	0.0003	6.573e-05	6.562e-05	2.572e-05	0.0001	0.0012	3.518e-05	2.617e-05	0.0005	0.0004	0	0	0	0.0006	0	0	0	2.941e-05	0	0.0012	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	A	3.825	0.95591	H	-4.4	0.97419	D	-7.49	0.95015	D	0.864	0.91505	1.137	0.99934	D	0.958	0.98639	D	9	0.9475945	0.94088	D	0.442368	0.94189	D	0.858	0.95655	.	.	0.999780721258	0.99977	0.8708964004251063	0.87055	0.520053127806	0.49812	0.684177279472	0.64869	T	0.852278	0.96649	D	0.289016	0.82075	D	0.487894	0.94369	D	0.989059329032898	0.79317	D	0.989851	0.96764	D	0.7516196	0.80962	0.5351026	0.73135	0.7428448	0.80456	0.48338583	0.70091	-14.13	0.93552	D	0.9858449454989004	0.99628	0.564	0.67382	P	.;.;.;.	.;.;.;.	5.299400	0.88975	29.8	0.99850493336936375	0.93013	0.58719	0.30718	D	AEFBI	0.559103	0.56805	D	0.316641426234155	0.57001	3.866101	0.144705948789566	0.46863	2.925359	0.0536682594544488	0.14946	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.85	3.96	0.45097	1.569000	0.36037	1.779000	0.28700	-0.224000	0.07868	0.799000	0.29708	0.927000	0.28453	0.706000	0.34326	0.3274:0.6726:0.0:0.0	11.444	0.49357	279	0.89001	.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2765.08	35	chr2	98396476	.	C	T	2765.08	.	AC=2;AF=0.048;AN=42;DP=799;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.92;SOR=0.954	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1413	20	1	0	0
chr2	98397175	98397175	G	C	exonic	CNGA3	.	nonsynonymous SNV	CNGA3:NM_001079878:exon7:c.G1951C:p.V651L	Achromatopsia 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	885774	Achromatopsia_2|not_provided	MONDO:MONDO:0009003,MedGen:C1857618,OMIM:216900,Orphanet:49382|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.000	N	0.927	D	0.505	N	-4.19	D	-0.113	T	0.678	D	0.039	-0.995	0.268	1.56	0.109	-0.028	6.317	0.286	0.0316259657648	0.0002	.	8.397e-05	0	0	0	0	0.0001	0.0011	0	0.0001035	16	154602	rs148496805	9.167e-05	9.166e-05	9.529e-05	8.801e-05	0.0002	7.891e-05	7.365e-05	9.203e-05	8.612e-05	2.987e-05	2.236e-05	0	0	1.874e-05	0.0002	0.0001	0.0001	1.159e-05	0.0001	0.0001	0.0001	8.069e-05	0.0002	7.09e-05	5.746e-05	0.0001	0.0001	0	0	0	0	0	0	0	0.0002	0.0005	0	0.892	0.03289	T	0.861	0.03399	T	0.0	0.02946	B	0.001	0.04355	B	0.000101	0.51296	N	0.172600	0.927342	0.36862	D	1.41	0.35535	L	-4.24	0.97394	D	-0.17	0.09627	N	0.02	0.13911	-0.1132	0.79793	T	0.678	0.88855	D	10	0.040115446	0.02553	T	0.031626	0.53663	D	0.286	0.60456	0.197	0.10975	0.804374619938	0.80255	0.09062399669407038	0.08995	0.0971038161414	0.10970	0.311932623386	0.12198	T	0.039017	0.25043	T	-0.247697	0.14383	T	-0.33853	0.40512	T	0.0157816986806412	0.00367	T	0.668933	0.27772	T	0.310859	0.53860	0.0971345	0.23108	0.310859	0.53860	0.0971345	0.23107	-1.378	0.01631	T	.	.	0.110	0.21466	B	.;.;.;.	.;.;.;.	0.764580	0.11341	7.962	0.44932943162929706	0.03490	0.37477	0.25771	N	AEFBI	0.343264	0.43914	N	-1.11032061209616	0.06459	0.297378	-1.00482894387669	0.09679	0.4829268	0.00952608698063835	0.11869	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.42	1.56	0.22423	0.577000	0.23461	1.265000	0.25255	-0.119000	0.14319	0.999000	0.42656	0.992000	0.31684	0.891000	0.42908	0.2308:0.1336:0.6356:0.0	6.317	0.20404	279	0.89001	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2135.98	35	chr2	98397175	.	G	C	2135.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=864;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.26;ReadPosRankSum=0.912;SOR=0.693	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1413	20	0	1	0
chr2	98821913	98821913	C	G	exonic	CRACDL	.	nonsynonymous SNV	CRACDL:NM_207362:exon7:c.G2360C:p.R787P,	.	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.023	B	0.017	B	0.000	N	1.000	N	0.345	N	0.93	T	-1.031	T	0.055	T	0.041	0.932	8.796	-0.038	-0.164	-1.303	5.335	0.103	0.010333340636	.	.	3.386e-05	0	0.0001	0	0	0	0.0016	7.374e-05	3.84e-05	1	26028	rs766219898	5.531e-06	6.156e-06	1.376e-06	9.726e-06	9.47e-05	2.38e-06	1.72e-06	4.662e-05	3.433e-05	0	0	0	0	0	0	0	0	9.47e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.861	0.03399	T	0.023	0.18885	B	0.017	0.18140	B	0.000014	0.00162	N	23.945300	1	0.08975	N	-0.95	0.01262	N	0.93	0.44065	T	2.05	0.00383	N	0.071	0.04426	-1.0308	0.20195	T	0.055	0.23338	T	10	0.01898709	0.00419	T	0.010333	0.26741	T	0.103	0.29403	0.331	0.31681	0.0138822411134	0.00435	0.09521958368895882	0.09453	.	.	0.369897753	0.20817	T	0.003011	0.02412	T	-0.575376	0.00206	T	-0.815955	0.01536	T	0.0222036792548378	0.00932	T	0.327867	0.06820	T	0.09467648	0.22265	0.123149656	0.29698	0.09467648	0.22265	0.123149656	0.29697	-3.196	0.12432	T	.	.	0.084	0.09820	B	.	.	-0.300238	0.02617	0.327	0.56308786725204929	0.05525	0.00514	0.02403	N	AEFDBI	0.026677	0.02047	N	-1.44529470013788	0.02254	0.09933074	-1.43462915621788	0.02912	0.1348656	0.998568095156839	0.37206	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.604944	0.38103	0	.	.	4.76	-0.0376	0.13211	-1.253000	0.02987	-0.174000	0.11198	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2157:0.2126:0.5717:0.0	5.335	0.15255	562	0.71143	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	909.98	38	chr2	98821913	.	C	G	909.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.766;DP=811;ExcessHet=0.0000;FS=3.526;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.00;ReadPosRankSum=-3.230e-01;SOR=0.357	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr2	98822837	98822837	A	G	exonic	CRACDL	.	nonsynonymous SNV	CRACDL:NM_207362:exon7:c.T1436C:p.I479T,	.	.	412	1108	2	0	0	2	0.000901713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.072	B	0.011	B	0.889	N	1.000	N	-0.345	N	0.99	T	-1.014	T	0.037	T	0.059	-0.267	2.720	-0.93	-0.366	0.191	.	0.007	0.106193787323	.	.	0.0003	0	0	0	0	2.551e-05	0	0.0033	0.0001423	22	154602	rs765486199	7.835e-05	9.167e-05	5.503e-05	0.0001	0.0014	6.553e-05	6.113e-05	0.0011	0.0011	0	0	0	3.192e-05	0	0.0002	6.748e-06	9.504e-05	0.0014	5.298e-05	5.267e-05	1.294e-05	9.497e-05	0.0015	2.575e-05	1.843e-05	0.0007	0.0005	2.442e-05	0	0	0	0	0	0	0	0	0.0015	0.303	0.14352	T	0.24	0.24406	T	0.072	0.23997	B	0.011	0.15521	B	0.889171	0.08700	N	0.936587	1	0.08975	N	0	0.06538	N	0.99	0.41750	T	0.08	0.06026	N	0.013	0.00142	-1.0142	0.25593	T	0.037	0.15986	T	9	0.0056156516	0.00124	T	0.106194	0.78168	D	0.007	0.00512	0.218	0.13932	0.0138822411134	0.00435	0.0398142639989382	0.03927	.	.	0.572044312954	0.48967	T	6.33E-4	0.00271	T	-0.677153	0.00050	T	-0.752244	0.03399	T	0.0282918018915648	0.01731	T	0.256474	0.04006	T	0.041550398	0.06139	0.08643682	0.20025	0.041550398	0.06138	0.08643682	0.20024	-0.08	0.00378	T	.	.	0.051	0.00191	B	.	.	0.237828	0.06184	2.633	0.20538863525775899	0.00743	0.00473	0.02263	N	AEFDBHCI	0.023515	0.01322	N	-1.57058448584842	0.01418	0.06183288	-1.64208959855669	0.01417	0.06407646	0.999994479128464	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.606814	0.37721	0	0.492483	0.08430	1	.	.	0.465	-0.93	0.09910	0.017000	0.13294	-0.416000	0.09315	-1.182000	0.01385	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	561	0.71236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	850.98	37	chr2	98822837	.	A	G	850.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.04;DP=785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=-1.211e+00;SOR=0.749	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1061	20	0	1	0
chr2	98823161	98823161	T	G	exonic	CRACDL	.	nonsynonymous SNV	CRACDL:NM_207362:exon7:c.A1112C:p.Q371P,	.	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.009	B	0.011	B	0.058	N	1.000	N	1.78	L	0.78	T	-1.013	T	0.102	T	0.136	1.520	11.03	2.66	0.342	0.199	5.486	0.018	.	.	0.00139776	0.0026	0	0.0002	0.0002	0	0	0	0.0167	0.0012419	192	154602	rs550777088	0.0007	0.0007	0.0003	0.0011	0.0116	0.0006	0.0006	0.0109	0.0107	0	8.313e-05	0	6.031e-05	0	0.0007	9.254e-07	0.0003	0.0116	0.0003	0.0003	0.0002	0.0004	0.0098	0.0002	0.0002	0.0075	0.0068	0	0	0	0	0	0	0	0	0	0.0098	0.012	0.54683	D	0.316	0.19362	T	0.009	0.15093	B	0.011	0.15521	B	0.057527	0.22474	N	0.332317	1	0.08975	N	1.625	0.41611	L	0.78	0.49358	T	-2.97	0.61865	D	0.217	0.24260	-1.0134	0.25848	T	0.102	0.37568	T	10	0.0035612881	0.00064	T	.	.	.	0.018	0.03083	.	.	0.0482279557977	0.04254	0.09554252821815787	0.09486	.	.	0.384675502777	0.22917	T	0.061464	0.31659	T	-0.572121	0.00215	T	-0.585193	0.14084	T	0.0251451974749917	0.01291	T	0.39826	0.10085	T	0.26865736	0.49938	0.26105347	0.51877	0.26865736	0.49938	0.26105347	0.51876	-1.904	0.02838	T	.	.	0.068	0.02861	B	.	.	1.144406	0.15318	11.76	0.55207027565144229	0.05295	0.12973	0.17589	N	AEFDBHCI	0.204251	0.33070	N	-0.844261380789914	0.12192	0.5927648	-0.879500740801469	0.12579	0.6479389	0.999987583423739	0.51787	0.56387	0.32371	0	0.547309	0.14657	0	0.503968	0.08637	0	0.621717	0.48901	0	.	.	5.08	2.66	0.30672	-0.228000	0.09119	0.418000	0.18188	0.642000	0.52262	0.000000	0.06391	0.077000	0.22320	0.030000	0.13115	0.0:0.0914:0.1744:0.7342	5.486	0.16040	560	0.71333	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	357.98	37	chr2	98823161	.	T	G	357.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.810e-01;DP=738;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.33;ReadPosRankSum=1.50;SOR=0.724	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1061	20	0	1	0
chr2	99171577	99171577	C	T	exonic	MITD1	.	nonsynonymous SNV	MITD1:NM_001320417:exon3:c.G119A:p.R40H	.	.	488	1033	1	0	0	1	0.000483793	.	.	2331500	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.007	B	0.001	B	0.000	D	1.000	N	1.5	L	0.94	T	0.029	D	0.619	D	0.227	2.665	14.87	3.38	0.546	3.920	8.598	0.293	0.0517328084436	.	0.000199681	0.0001	9.679e-05	0.0010	0	0	3.008e-05	0	0.0002	0.0001164	18	154602	rs547453688	6.915e-05	7.114e-05	7.494e-05	6.33e-05	0.0009	5.785e-05	5.396e-05	0.0007	0.0006	5.983e-05	0.0009	3.833e-05	7.58e-05	0	0.0009	3.6e-05	3.315e-05	0.0001	6.573e-05	6.564e-05	6.428e-05	6.724e-05	0.0003	3.518e-05	2.617e-05	8.879e-05	5.388e-05	0.0001	0	0.0003	0	0	0	0	1.471e-05	0	0	0.102	0.30235	T	0.08	0.41913	T	0.007	0.14184	B	0.001	0.04355	B	0.000130	0.49741	D	0.210070	0.604985	0.81001	N	0	0.06538	N	-2.98	0.92057	D	-0.86	0.25551	N	0.082	0.05799	0.029	0.82838	D	0.619	0.86559	D	10	0.059304476	0.07107	T	0.051733	0.64784	D	0.293	0.61272	.	.	0.966218830229	0.96585	0.20123955559990442	0.20040	0.40725322585	0.41592	0.215082764626	0.01045	T	0.221572	0.58518	T	-0.298596	0.08792	T	-0.258037	0.49020	T	0.0311420736877861	0.02169	T	0.711029	0.32195	T	0.11027216	0.26066	0.08055066	0.18232	0.11027216	0.26065	0.08055066	0.18231	-6.265	0.48445	T	.	.	0.073	0.06756	B	.;.;.	.;.;.	1.723456	0.21940	15.41	0.97442041438061944	0.33982	0.21240	0.21331	N	AEFBI	0.056306	0.10397	N	-0.336488500066247	0.27772	1.526407	-0.1817293133001	0.32207	1.830159	0.995373464573747	0.34093	0.744818	0.98587	0	0.732433	0.95613	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.71	3.38	0.37806	3.880000	0.55858	1.426000	0.26406	-0.850000	0.02721	1.000000	0.71638	1.000000	0.68203	0.904000	0.43992	0.0:0.1607:0.0:0.8393	8.598	0.32889	266	0.89551	MIT, C-terminal phospholipase D-like domain;MIT, C-terminal phospholipase D-like domain;MIT, C-terminal phospholipase D-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1230.98	33	chr2	99171577	.	C	T	1230.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=806;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=-6.130e-01;SOR=0.734	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr2	99390613	99390613	G	A	exonic	EIF5B	.	nonsynonymous SNV	EIF5B:NM_015904:exon17:c.G2656A:p.D886N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.793	P	0.56	P	.	.	1.000	D	3.395	M	-0.73	T	0.213	D	0.544	D	0.374	6.021	37	5.53	2.746	9.700	19.811	0.694	0.142793453651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.061	0.45530	T	0.793	0.44725	P	0.56	0.49558	P	.	.	.	.	1	0.81001	D	3.315	0.90654	M	-0.73	0.73100	T	-3.97	0.73684	D	0.63	0.64393	0.213	0.86132	D	0.544	0.83208	D	8	0.9126357	0.90628	D	0.142793	0.82515	D	0.694	0.88913	0.864	0.95995	0.614425270908	0.61131	0.5763173653873808	0.57560	1.7600581582	0.91115	0.812806487083	0.83922	D	0.653892	0.89531	D	0.0869895	0.62849	D	-0.112822	0.62385	T	0.973848506784709	0.70263	D	0.962504	0.86259	D	0.34774193	0.56891	0.34795704	0.60442	0.34774193	0.56891	0.34795704	0.60441	-8.071	0.61553	D	.	.	0.280	0.51332	B	.;.	.;.	5.402828	0.90465	31	0.99929077074018369	0.99279	0.99272	0.93765	D	AEFBI	0.905520	0.85714	D	0.797561309752087	0.85951	8.732649	0.800243538308844	0.89809	10.13081	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	9.802000	0.98244	11.789000	0.96319	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.811	0.96543	441	0.80015	Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05882	264.87	54	chr2	99390613	.	G	A	264.87	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-2.288e+00;DP=1805;ExcessHet=0.1072;FS=80.190;InbreedingCoeff=-0.1183;MLEAC=2;MLEAF=0.059;MQ=60.00;MQRankSum=0.00;QD=1.10;ReadPosRankSum=0.616;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:90,0:90:29:.:.:0,29,2084	15	0	2	4
chr2	99418839	99418839	G	A	exonic	REV1	.	nonsynonymous SNV	REV1:NM_001037872:exon12:c.C1937T:p.T646I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.002	B	0.012	B	0.001	N	0.816	D	0.97	L	-0.63	T	-0.974	T	0.166	T	0.164	1.751	11.82	0.867	-0.125	1.019	2.421	0.097	0.0256329379428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.18184	T	0.201	0.27503	T	0.002	0.09854	B	0.012	0.16012	B	0.000822	0.41547	N	0.296526	0.816365	0.34712	D	1.315	0.32790	L	-0.63	0.72011	T	-2.92	0.62151	D	0.243	0.28616	-0.9737	0.36409	T	0.166	0.50486	T	10	0.15268654	0.28836	T	0.025633	0.48589	D	0.097	0.27909	0.506	0.60078	0.373944490328	0.37009	0.509381049012957	0.50860	0.114964671949	0.12969	0.373089671135	0.21274	T	0.162433	0.50710	T	-0.0952671	0.37207	T	-0.374621	0.36350	T	0.316005289554596	0.25659	T	0.808019	0.45805	T	0.15445618	0.34959	0.106173776	0.25537	0.15445618	0.34959	0.106173776	0.25536	-7.071	0.54551	T	.	.	0.088	0.13503	B	.;.	.;.	1.595084	0.20400	14.73	0.97015040602713198	0.32002	0.86206	0.45442	D	AEFBI	0.081723	0.16540	N	-0.488862572979295	0.22446	1.198544	-0.387803611650867	0.25358	1.394132	0.81690906478528	0.24454	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.79	0.867	0.18222	1.070000	0.30265	1.067000	0.23771	0.672000	0.70159	1.000000	0.71638	0.496000	0.25178	0.984000	0.60418	0.3087:0.1177:0.4615:0.1121	2.421	0.04177	383	0.83590	.;UmuC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	468.98	60	chr2	99418839	.	G	A	468.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.15;DP=781;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.82;ReadPosRankSum=-1.202e+00;SOR=0.711	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,996	20	0	1	0
chr2	99649641	99649641	C	T	exonic	AFF3	.	nonsynonymous SNV	AFF3:NM_001025108:exon12:c.G1244A:p.R415H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.037	B	0.012	B	0.012	N	0.692	N	1.1	L	-0.49	T	-0.870	T	0.183	T	0.249	2.198	13.31	3.05	0.319	1.550	3.461	0.025	0.0153999551851	.	0.000199681	2.477e-05	0	0	0.0001	0	3.003e-05	0	0	2.59e-05	4	154602	rs201587401	1.505e-05	1.505e-05	1.497e-05	1.513e-05	3.479e-05	9.85e-06	8.41e-06	1.012e-05	8.35e-06	2.987e-05	0	0	0	0	0	1.619e-05	0	3.479e-05	4.599e-05	4.594e-05	2.571e-05	6.719e-05	0.0004	2.109e-05	1.527e-05	6.823e-05	2.855e-05	2.408e-05	0	0	0	0.0004	9.439e-05	0	2.941e-05	0	0.0002	0.136	0.28148	T	0.071	0.43531	T	0.004	0.12183	B	0.005	0.11217	B	0.011704	0.29430	N	0.160493	0.691655	0.33332	D	1.78	0.46185	L	-0.49	0.70365	T	-1.92	0.44657	N	0.25	0.28498	-0.8700	0.50529	T	0.183	0.53057	T	10	0.051447153	0.05028	T	0.015	0.36109	T	0.025	0.05312	.	.	0.267718591433	0.26370	0.20134429808803234	0.20051	.	.	0.241370677948	0.02915	T	0.090614	0.38623	T	-0.230174	0.16626	T	-0.386878	0.34916	T	0.132688969373703	0.15629	T	0.769523	0.39899	T	0.03564387	0.04233	0.04352287	0.05435	0.03564387	0.04233	0.04352287	0.05435	-3.359	0.14510	T	.	.	0.066	0.02313	B	.;.;.	.;.;.	1.489832	0.19165	14.12	0.99127311549820907	0.53169	0.55017	0.29759	D	AEFBIJ	0.139942	0.26171	N	-0.297881529120325	0.29230	1.619138	-0.146545948717349	0.33541	1.919721	0.39397691986396	0.20072	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.07	3.05	0.34272	1.589000	0.36253	1.099000	0.24051	0.599000	0.40250	0.928000	0.32210	0.742000	0.26489	0.597000	0.31313	0.2012:0.5685:0.0:0.2302	3.461	0.07099	255	0.89985	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	605.98	35	chr2	99649641	.	C	T	605.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.300e-01;DP=726;ExcessHet=0.0000;FS=1.271;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.15;ReadPosRankSum=0.227;SOR=0.495	GT:AD:DP:GQ:PL	0/1:14,26:40:99:620,0,289	20	0	1	0
chr2	100298868	100298868	G	T	exonic	LONRF2	.	nonsynonymous SNV	LONRF2:NM_198461:exon7:c.C1444A:p.H482N	.	.	425	1092	5	0	0	5	0.00228415	.	.	2812172	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.39	T	0.003	B	0.016	B	0.002	N	0.822	D	-0.72	N	1.05	T	-1.068	T	0.019	T	0.068	0.598	7.222	2.09	0.876	1.396	8.965	0.049	.	0.0074	0.00319489	0.0074	0.0024	0.0027	0	0.0219	0.0102	0.0033	0.0008	0.0074708	1155	154602	rs116702638	0.0094	0.0094	0.0097	0.0091	0.0107	0.0093	0.0092	0.0105	0.0105	0.0013	0.0038	0.0054	0	0.0193	0.0024	0.0107	0.0067	0.0010	0.0070	0.0070	0.0069	0.0072	0.0098	0.0067	0.0065	0.0091	0.0089	0.0019	0	0.0042	0.0049	0	0.0210	0	0.0098	0.0076	0.0010	0.166	0.23183	T	0.517	0.10572	T	0.003	0.11197	B	0.016	0.17743	B	0.002062	0.37317	N	0.258855	0.715228	0.34796	D	-0.425	0.02884	N	1.05	0.39990	T	-2.17	0.49018	N	0.211	0.23506	-1.0678	0.09903	T	0.019	0.08173	T	10	0.00684464	0.00156	T	.	.	.	0.049	0.13647	.	.	0.295226631146	0.29124	0.32937313727823714	0.32850	0.389715505407	0.40204	0.481564313173	0.36272	T	0.022653	0.17425	T	-0.636122	0.00088	T	-0.675491	0.07261	T	0.0163635422777987	0.00405	T	0.652235	0.26282	T	0.08047845	0.18442	0.09920867	0.23679	0.08047845	0.18442	0.09920867	0.23678	-8.521	0.64568	D	.	.	0.141	0.31023	B	.;.	.;.	0.916531	0.12909	9.421	0.75059455686708343	0.10929	0.57950	0.30511	D	AEFDGBI	0.096426	0.19465	N	-0.818687413691486	0.12834	0.6281359	-0.70805924372528	0.16760	0.8881217	0.999783068285757	0.43007	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	4.09	2.09	0.26154	1.117000	0.30848	1.121000	0.24244	-0.106000	0.15538	0.911000	0.31706	0.002000	0.18203	0.037000	0.13953	0.0:0.1467:0.5877:0.2655	8.965	0.35031	615	0.66512	Zinc finger, RING-type|Zinc finger, RING-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2654.11	33	chr2	100298868	.	G	T	2654.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.05;DP=919;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=0.880;SOR=0.702	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1308	19	0	2	0
chr2	100990275	100990275	G	A	exonic	NPAS2	.	nonsynonymous SNV	NPAS2:NM_002518:exon18:c.G1847A:p.S616N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.08	B	0.041	B	0.577	N	0.779	D	1.01	L	3.33	T	-1.020	T	0.016	T	0.078	1.441	10.76	4.02	2.257	4.312	11.371	0.084	0.00783798203008	0.0002	0.000199681	3.299e-05	0.0004	0	0	0	0	0	0	3.23e-05	5	154602	rs143362961	1.437e-05	1.436e-05	1.906e-05	9.626e-06	0.0004	9.23e-06	7.84e-06	0.0002	0.0002	0.0004	0	0	0	0	0.0002	3.597e-06	6.623e-05	0	0.0001	0.0001	0.0001	0.0001	0.0004	8.165e-05	6.721e-05	0.0002	0.0002	0.0004	0	6.533e-05	0	0	0	0	1.47e-05	0.0005	0	0.157	0.23997	T	0.369	0.16522	T	0.005	0.12996	B	0.008	0.13708	B	0.577120	0.11180	N	0.827143	0.778907	0.34242	D	1.39	0.34934	L	3.33	0.06138	T	-0.58	0.17417	N	0.325	0.36569	-1.0201	0.23682	T	0.016	0.06569	T	10	0.06159237	0.07746	T	0.007838	0.20798	T	0.084	0.24469	.	.	0.358880540497	0.35496	0.44241506983029927	0.44158	0.410812321046	0.41857	0.398588299751	0.24871	T	0.064385	0.32421	T	-0.509784	0.00503	T	-0.664069	0.07995	T	0.0674581540444281	0.08290	T	0.637336	0.25103	T	0.04595931	0.07611	0.069163255	0.14538	0.04595931	0.07611	0.069163255	0.14537	-5.42	0.41111	T	0.18549396345850747	0.24104	0.082	0.08609	B	.	.	2.967187	0.39537	21.0	0.95776504805852336	0.27791	0.91847	0.54391	D	AEFDBI	0.386594	0.46690	N	-0.322218646608025	0.28307	1.56018	-0.208973575683087	0.31213	1.764342	0.999645513570549	0.41316	0.706548	0.73137	0	0.573888	0.26702	0	0.603688	0.36954	0	0.714379	0.83352	0	.	.	4.91	4.02	0.45968	4.438000	0.59704	4.128000	0.42014	0.676000	0.76740	0.991000	0.37257	1.000000	0.68203	0.665000	0.33109	0.089:0.0:0.911:0.0	11.371	0.48940	725	0.54935	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1032.98	40	chr2	100990275	.	G	A	1032.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.180e-01;DP=797;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.93;ReadPosRankSum=0.928;SOR=0.667	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1313	20	0	1	0
chr2	100990302	100990302	G	A	exonic	NPAS2	.	nonsynonymous SNV	NPAS2:NM_002518:exon18:c.G1874A:p.R625H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.009	B	0.004	B	0.676	N	1.000	N	0.69	N	3.55	T	-0.929	T	0.013	T	0.187	-0.124	3.391	-0.426	-0.031	0.267	5.355	0.027	0.00545255870143	0.0002	.	8.242e-05	0	0	0	0	0.0001	0	0	7.76e-05	12	154602	rs200722501	4.788e-05	4.788e-05	5.445e-05	4.125e-05	0.0001	3.86e-05	3.54e-05	4.907e-05	4.281e-05	0	0	0	0.0001	0	0	5.845e-05	0	0	3.287e-05	3.283e-05	2.57e-05	4.037e-05	7.35e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0	0	0.266	0.16251	T	0.135	0.34124	T	0.003	0.11197	B	0.001	0.04355	B	0.675541	0.06061	N	1.174020	1	0.08975	N	0.41	0.12415	N	3.55	0.04746	T	-0.56	0.17003	N	0.043	0.01577	-0.9294	0.44227	T	0.013	0.04890	T	10	0.043991983	0.03307	T	0.005453	0.14015	T	0.027	0.05988	.	.	0.288221626996	0.28429	0.2110849776659986	0.21024	0.349945648708	0.36842	0.225663870573	0.01663	T	0.063928	0.32302	T	-0.452709	0.01089	T	-0.651393	0.08856	T	0.0265884785755812	0.01487	T	0.751225	0.37284	T	0.015105615	0.00122	0.02030998	0.00129	0.015105615	0.00122	0.02030998	0.00129	-2.092	0.03550	T	0.055174013151506635	0.01211	0.061	0.01179	B	.	.	0.586262	0.09550	6.323	0.86187439043811698	0.16370	0.01113	0.04069	N	AEFDBI	0.042033	0.06468	N	-1.04402005189573	0.07705	0.3588688	-1.07961511113839	0.08102	0.3969111	0.951797288235494	0.27978	0.706548	0.73137	0	0.573888	0.26702	0	0.717052	0.78885	0	0.714379	0.83352	0	.	.	4.66	-0.426	0.11700	0.304000	0.18983	1.490000	0.26882	0.676000	0.76740	0.213000	0.24458	0.818000	0.27101	0.027000	0.12703	0.2589:0.3161:0.425:0.0	5.355	0.15361	725	0.54935	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1390.98	40	chr2	100990302	.	G	A	1390.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.199;DP=822;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=-4.860e-01;SOR=0.684	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1313	20	0	1	0
chr2	100990829	100990829	G	A	exonic	NPAS2	.	nonsynonymous SNV	NPAS2:NM_002518:exon19:c.G2068A:p.A690T,	.	.	419	1101	2	0	0	2	0.000907441	.	.	707625	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.15	T	0.414	B	0.021	B	0.330	N	1.000	N	1.575	L	3.42	T	-1.081	T	0.034	T	0.374	2.481	14.25	3.76	1.074	1.510	9.345	0.051	.	0.0109	0.00858626	0.0032	0.0329	0.0015	0.0001	0	0.0004	0.0033	0.0002	0.0030659	474	154602	rs58728948	0.0010	0.0010	0.0012	0.0009	0.0303	0.0010	0.0010	0.0288	0.0282	0.0303	0.0023	0	0	0	0.0035	0.0002	0.0024	0.0001	0.0091	0.0091	0.0092	0.0089	0.0310	0.0087	0.0085	0.0296	0.0290	0.0310	0	0.0032	0	0	0	0.0068	0.0004	0.0071	0.0002	0.045	0.40832	D	0.176	0.29843	T	0.291	0.32334	B	0.009	0.14300	B	0.330267	0.14125	N	0.714951	0.999968	0.18878	N	1.735	0.44892	L	3.42	0.05507	T	-0.55	0.16799	N	0.357	0.39861	-1.0808	0.07194	T	0.034	0.14683	T	10	0.0067507327	0.00153	T	.	.	.	0.077	0.22490	.	.	0.262679179196	0.25893	0.274744352450568	0.27387	0.279076304862	0.30389	0.498855113983	0.38669	T	0.057268	0.30520	T	-0.503138	0.00549	T	-0.472502	0.25246	T	0.00369850412270088	0.00039	T	0.684232	0.29249	T	0.043181885	0.06686	0.069592394	0.14681	0.04169522	0.06188	0.06327837	0.12510	-3.717	0.19569	T	0.15737680073383442	0.19000	0.068	0.02861	B	.	.	2.432986	0.31299	18.70	0.993329140946139	0.59856	0.14924	0.18655	N	AEFDBI	0.062303	0.11968	N	-0.230922418718729	0.31872	1.791509	-0.290514434701946	0.28410	1.583879	0.99996262294433	0.48965	0.706548	0.73137	0	0.573888	0.26702	0	0.717052	0.78885	0	0.714379	0.83352	0	.	.	4.63	3.76	0.42368	1.678000	0.37202	3.998000	0.41048	0.676000	0.76740	0.568000	0.27489	0.990000	0.31317	0.945000	0.48827	0.1656:0.0:0.8344:0.0	9.345	0.37265	725	0.54935	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1549.98	38	chr2	100990829	.	G	A	1549.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.817;DP=876;ExcessHet=0.0000;FS=3.515;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.66;ReadPosRankSum=-2.680e-01;SOR=0.848	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr2	101405990	101405992	AGA	-	exonic	RFX8	.	nonframeshift deletion	RFX8:NM_001367510:exon9:c.366_368del:p.L123del	.	.	416	1099	7	0	0	7	0.0031746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0090	0.00878594	0.0031	0.0261	0.0097	0	0	0.0005	0.0041	0.0001	0.0007827	121	154602	rs140084999	0.0010	0.0010	0.0011	0.0010	0.0316	0.0010	0.0010	0.0300	0.0294	0.0316	0.0027	3.974e-05	0	0	0.0060	0.0001	0.0032	0.0002	0.0083	0.0083	0.0084	0.0081	0.0270	0.0079	0.0077	0.0257	0.0251	0.0270	0	0.0066	0	0	0	0.0068	0.0003	0.0066	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1266.94	36	chr2	101405989	.	GAGA	G	1266.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.747;DP=781;ExcessHet=0.0000;FS=2.021;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.63;ReadPosRankSum=-3.870e-01;SOR=0.757	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1093	20	0	1	0
chr2	102166230	102166230	T	C	exonic	IL1R1	.	nonsynonymous SNV	IL1R1:NM_001320983:exon4:c.T172C:p.Y58H	.	.	424	1078	18	2	0	22	0.010101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.037	B	0.063	B	0.901	N	1.000	N	-0.03	N	2.8	T	-0.938	T	0.013	T	0.149	2.334	13.76	-2.39	-0.314	-0.203	11.584	0.098	0.00665824055646	0.0012	0.000798722	0.0018	9.612e-05	0.0006	0	0.0002	0.0027	0.0011	0.0016	0.0016817	260	154602	rs34889382	0.0015	0.0015	0.0014	0.0015	0.0104	0.0014	0.0014	0.0083	0.0075	0.0004	0.0010	0.0101	0	0.0003	0.0104	0.0013	0.0024	0.0013	0.0015	0.0015	0.0016	0.0013	0.0019	0.0013	0.0012	0.0016	0.0015	0.0002	0	0.0011	0.0153	0	0.0003	0.0102	0.0019	0.0033	0.0008	0.773	0.12187	T	0.591	0.08189	T	0.028	0.20876	B	0.063	0.27082	B	0.901197	0.08619	N	0.957187	0.999999	0.19781	N	0.255	0.09829	N	2.8	0.11082	T	-0.58	0.21003	N	0.211	0.23506	-0.9376	0.42994	T	0.013	0.05081	T	10	0.0037120283	0.00069	T	0.006658	0.17585	T	0.098	0.28162	.	.	0.230578612272	0.22657	0.73700103169836	0.73645	0.338698603847	0.35831	0.344494819641	0.17108	T	0.004703	0.26635	T	-0.619492	0.00111	T	-0.657507	0.08435	T	0.00789218586577742	0.00093	T	0.665033	0.27384	T	0.071108714	0.15718	0.0410441	0.04577	0.071108714	0.15718	0.0410441	0.04576	-5.231	0.39255	T	.	.	0.089	0.17360	B	.;.;.;.;.;.	.;.;.;.;.;.	1.012634	0.13919	10.48	0.90119739370330354	0.19401	0.03407	0.08526	N	ALL	0.076834	0.15466	N	-1.17856681754949	0.05325	0.2424616	-1.12025283461417	0.07313	0.3552734	0.99999998499494	0.74766	0.713056	0.82018	0	0.588066	0.40923	0	0.573888	0.23631	0	0.670209	0.66018	0	.	.	5.75	-2.39	0.06223	-0.021000	0.12445	-0.594000	0.08306	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.980000	0.58198	0.0:0.2245:0.0:0.7755	11.584	0.50164	829	0.39537	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2315.11	33	chr2	102166230	.	T	C	2315.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.25;DP=841;ExcessHet=0.1072;FS=1.867;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=-5.040e-01;SOR=0.878	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1184	19	0	2	0
chr2	102175534	102175534	G	A	exonic	IL1R1	.	nonsynonymous SNV	IL1R1:NM_001320983:exon9:c.G760A:p.G254R	.	.	425	1077	18	2	0	22	0.0101103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.999	D	0.964	D	0.720	N	1.000	N	1.995	M	4.41	T	-1.041	T	0.044	T	0.412	2.187	13.27	4.35	1.318	2.228	7.834	0.121	0.0119043415428	0.0012	0.000798722	0.0018	9.61e-05	0.0006	0	0.0002	0.0027	0.0011	0.0016	0.0016623	257	154602	rs34835752	0.0015	0.0015	0.0014	0.0015	0.0102	0.0014	0.0014	0.0081	0.0074	0.0004	0.0010	0.0101	0	0.0003	0.0102	0.0013	0.0024	0.0013	0.0015	0.0015	0.0016	0.0013	0.0018	0.0013	0.0012	0.0016	0.0015	0.0002	0	0.0011	0.0153	0	0.0003	0.0102	0.0018	0.0033	0.0008	0.008	0.58626	D	0.3	0.31125	T	0.999	0.77913	D	0.964	0.71005	D	0.719718	0.09945	N	0.892392	1	0.19989	N	2.13	0.59329	M	3.83	0.04852	T	-2.64	0.63901	D	0.063	0.27197	-1.0414	0.16890	T	0.044	0.18742	T	10	0.004638791	0.00097	T	0.011904	0.29978	T	0.121	0.33580	0.353	0.35246	0.276898752692	0.27294	0.4624507268944144	0.46163	0.498436254075	0.48318	0.338012158871	0.16140	T	0.010983	0.47009	T	-0.479095	0.00748	T	-0.455836	0.27054	T	0.0179106647910053	0.00518	T	0.817618	0.47476	T	0.16080192	0.36047	0.1890055	0.42222	0.16080192	0.36046	0.1890055	0.42221	-4.401	0.29571	T	.	.	0.136	0.29697	B	.;.;.;.;.	.;.;.;.;.	2.258503	0.28859	17.93	0.99228538521057619	0.56151	0.08097	0.14067	N	AEFBI	0.156399	0.28175	N	-0.0838279245298101	0.38100	2.226452	-0.171238933650039	0.32600	1.856322	0.997406078786632	0.35583	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.528226	0.09195	0	.	.	5.24	4.35	0.51454	1.576000	0.36113	5.900000	0.50875	0.676000	0.76740	0.016000	0.19238	1.000000	0.68203	0.925000	0.46118	0.1109:0.1628:0.7262:0.0	7.834	0.28519	819	0.41190	Toll/interleukin-1 receptor homology (TIR) domain;Toll/interleukin-1 receptor homology (TIR) domain;Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain;Toll/interleukin-1 receptor homology (TIR) domain;Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	4334.11	40	chr2	102175534	.	G	A	4334.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.12;DP=975;ExcessHet=0.1072;FS=1.401;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.45;ReadPosRankSum=1.37;SOR=0.807	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1396	19	0	2	0
chr2	102235010	102235010	G	A	exonic	IL1RL2	.	nonsynonymous SNV	IL1RL2:NM_001351448:exon8:c.G985A:p.A329T	.	.	435	1020	65	2	0	69	0.0327169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.964	D	0.595	P	0.049	N	0.564	N	2.125	M	2.75	T	-1.098	T	0.004	T	0.127	3.511	17.94	3.4	1.140	3.205	12.428	0.107	.	0.0036	0.028754	0.0169	0.0013	0.0072	0.0765	0.0009	0.0045	0.0176	0.0584	0.015679	2424	154602	rs75091099	0.0098	0.0098	0.0082	0.0114	0.0652	0.0097	0.0096	0.0631	0.0622	0.0012	0.0067	0.0070	0.0652	0.0007	0.0290	0.0049	0.0116	0.0564	0.0083	0.0083	0.0072	0.0095	0.0707	0.0079	0.0078	0.0647	0.0624	0.0012	0	0.0078	0.0075	0.0707	0.0008	0.0170	0.0057	0.0090	0.0589	0.064	0.44694	T	0.05	0.48855	T	0.964	0.55854	D	0.595	0.50587	P	0.048647	0.23232	N	0.467616	0.57825	0.31234	N	1.39	0.34934	L	2.75	0.11622	T	-2.78	0.59226	D	0.074	0.04790	-1.0976	0.04394	T	0.004	0.01435	T	10	0.0024054945	0.00036	T	.	.	.	0.107	0.30369	.	.	.	.	0.4263791408708797	0.42554	0.220987285755	0.24648	0.283961176872	0.08051	T	0.275429	0.64797	T	-0.632716	0.00092	T	-0.625743	0.10740	T	0.0200631921484089	0.00707	T	0.762324	0.44094	T	0.12541069	0.29400	0.2107837	0.45480	0.12541069	0.29400	0.2107837	0.45479	-9.969	0.76438	D	.	.	0.130	0.34514	B	.;.	.;.	2.545631	0.32935	19.19	0.9987192860215679	0.94989	0.66926	0.33249	D	AEFDBHCI	0.163854	0.29018	N	0.145910387066087	0.48618	3.071912	0.0593109593633821	0.42523	2.573534	0.999999324635554	0.74766	0.55562	0.30534	0	0.61073	0.52368	0	0.615948	0.41167	0	0.665031	0.64506	0	.	.	5.43	3.4	0.38031	3.280000	0.51382	3.752000	0.39687	0.618000	0.50648	0.838000	0.30254	1.000000	0.68203	0.301000	0.24523	0.1128:0.0:0.8872:0.0	12.428	0.54891	818	0.41518	Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3682.11	54	chr2	102235010	.	G	A	3682.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.80;DP=968;ExcessHet=0.1072;FS=0.977;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=-1.100e-01;SOR=0.789	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1266	19	0	2	0
chr2	102505267	102505267	G	A	exonic	SLC9A4	.	nonsynonymous SNV	SLC9A4:NM_001011552:exon4:c.G994A:p.A332T,	.	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.996	D	0.745	P	0.000	D	1.000	D	1.82	L	2.38	T	-1.127	T	0.084	T	0.794	4.266	22.3	5.38	2.687	6.492	18.469	0.314	0.0113720125766	7.7e-05	.	6.144e-05	0	0	0	0	0.0001	0	0	7.12e-05	11	154602	rs369636879	0.0003	0.0003	0.0002	0.0003	0.0003	0.0002	0.0002	0.0003	0.0003	8.961e-05	6.713e-05	0	0	0	0.0002	0.0003	0.0002	1.16e-05	0.0001	0.0001	0.0002	9.415e-05	0.0002	8.169e-05	6.725e-05	0.0002	0.0001	2.414e-05	0	6.544e-05	0	0	0	0	0.0002	0	0	0.064	0.36509	T	0.072	0.43344	T	0.996	0.68779	D	0.745	0.55870	P	0.000000	0.84330	D	0.049983	0.999932	0.51612	D	2.165	0.60562	M	2.38	0.15843	T	-2.51	0.54546	D	0.497	0.53006	-1.1267	0.01947	T	0.084	0.32872	T	10	0.4993684	0.61457	T	0.011372	0.28926	T	0.314	0.63588	.	.	0.592255424068	0.58902	0.823980799542405	0.82355	0.46291831914	0.45811	0.72811627388	0.71231	T	0.284895	0.65768	T	-0.130356	0.31440	T	-0.165345	0.57867	T	0.742698967456818	0.42883	D	0.911709	0.68653	D	0.5875641	0.72019	0.7098739	0.82888	0.5875641	0.72020	0.7098739	0.82889	-9.346	0.69896	D	.	.	0.777	0.76232	P	.	.	5.018460	0.83384	28.0	0.99912215271303917	0.98167	0.95188	0.63763	D	AEFGBCI	0.687212	0.64863	D	0.495234517327388	0.66809	4.998674	0.450975135509282	0.64778	4.741152	0.999997465286433	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	5.38	5.38	0.77279	6.660000	0.74263	11.583000	0.93355	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.728000	0.35033	0.0:0.0:1.0:0.0	18.469	0.90715	445	0.79730	Cation/H+ exchanger	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1401.98	33	chr2	102505267	.	G	A	1401.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.32;DP=795;ExcessHet=0.0000;FS=0.858;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.24;ReadPosRankSum=1.06;SOR=0.892	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1256	20	0	1	0
chr2	102526298	102526298	G	A	exonic	SLC9A4	.	nonsynonymous SNV	SLC9A4:NM_001011552:exon11:c.G1990A:p.G664R,	.	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.564	P	0.048	B	0.002	N	1.000	N	0.805	L	0.94	T	-1.022	T	0.068	T	0.138	1.886	12.27	-1.17	-0.454	0.556	10.820	0.107	0.0154110727445	0.0022	0.000199681	0.0029	0.0002	0.0003	0	0.0011	0.0050	0.0022	0.0002	0.0027296	422	154602	rs150367489	0.0031	0.0031	0.0032	0.0030	0.0038	0.0031	0.0030	0.0037	0.0036	0.0003	0.0010	0.0005	2.521e-05	0.0021	0.0009	0.0038	0.0031	0.0002	0.0019	0.0019	0.0020	0.0018	0.0035	0.0017	0.0016	0.0031	0.0030	0.0005	0	0.0005	0	0	0.0012	0	0.0035	0.0038	0	0.141	0.25560	T	0.164	0.31026	T	0.564	0.38410	P	0.048	0.24975	B	0.001784	0.00826	N	2.759140	1	0.08975	N	0.695	0.17993	N	0.94	0.43672	T	-1.42	0.34992	N	0.226	0.25377	-1.0221	0.23031	T	0.068	0.27980	T	10	0.00434497	0.00088	T	0.015411	0.36125	T	0.107	0.30369	0.24	0.17218	0.18274738541	0.17906	0.3720665252234536	0.37120	0.174985095503	0.19701	0.31788533926	0.13100	T	0.037358	0.24446	T	-0.620244	0.00110	T	-0.66331	0.08045	T	0.00630734206903649	0.00070	T	0.536546	0.18022	T	0.053553026	0.10151	0.07325155	0.15898	0.053553026	0.10151	0.07325155	0.15898	-3.564	0.17338	T	.	.	0.101	0.17530	B	.	.	1.210698	0.16035	12.27	0.77948707599519951	0.12091	0.00567	0.02575	N	AEFBI	0.020441	0.00807	N	-1.24093504913706	0.04420	0.19946	-1.28069536126792	0.04691	0.2218902	1.39680447917576E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.8	-1.17	0.09152	0.603000	0.23848	0.841000	0.22043	-2.216000	0.00350	0.212000	0.24446	0.010000	0.20010	0.001000	0.02609	0.5663:0.0:0.4337:0.0	10.820	0.45805	556	0.71678	Sodium/hydrogen exchanger, regulatory region	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1407.98	35	chr2	102526298	.	G	A	1407.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=848;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.26;ReadPosRankSum=-3.190e-01;SOR=0.726	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1219	20	0	1	0
chr2	104855597	104855599	TGG	-	exonic	POU3F3	.	nonframeshift deletion	POU3F3:NM_006236:exon1:c.87_89del:p.G43del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1201129679	1.435e-05	0.0006	6.706e-06	2.315e-05	0.0003	7.65e-06	6.04e-06	6.64e-06	4.84e-06	0	0	0	0.0003	0	0	1.314e-05	0	5.351e-05	1.027e-05	0.0003	1.99e-05	0	2.102e-05	0	0	.	.	0	0	0	0	0	0	0	2.102e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	52.02	11	chr2	104855596	.	CTGG	C	52.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.190e-01;DP=277;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0298;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.50;ReadPosRankSum=2.10;SOR=0.307	GT:AD:DP:GQ:PL	0/1:6,2:8:66:66,0,205	20	0	1	0
chr2	104855597	104855597	T	0	exonic	POU3F3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	4762.41	11	chr2	104855597	.	T	C,*	4762.41	.	AC=25,1;AF=0.658,0.026;AN=38;BaseQRankSum=-6.230e-01;DP=340;ExcessHet=0.0665;FS=7.060;InbreedingCoeff=0.2714;MLEAC=26,1;MLEAF=0.684,0.026;MQ=60.00;MQRankSum=0.00;QD=16.71;ReadPosRankSum=0.298;SOR=0.767	GT:AD:DP:GQ:PL	1/2:0,6,2:8:66:244,84,66,170,0,205	3	9	6	2
chr2	106125656	106125656	G	A	exonic	UXS1	.	nonsynonymous SNV	UXS1:NM_001253876:exon3:c.C82T:p.R28C	.	.	423	1097	2	0	0	2	0.000910747	.	.	2198320	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.998	D	0.885	P	0.000	N	1.000	D	3.7	H	-3.53	D	1.073	D	0.928	D	0.966	3.807	19.33	5.1	1.535	5.821	15.418	0.907	0.446775150427	0.0002	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs200230406	4.133e-05	4.994e-05	4.3e-05	3.963e-05	0.0002	3.255e-05	2.981e-05	7.964e-05	5.404e-05	0.0002	2.505e-05	0	0	0	0.0002	4.569e-05	0	1.238e-05	7.888e-05	7.881e-05	3.855e-05	0.0001	0.0001	4.498e-05	3.513e-05	6.286e-05	4.301e-05	0.0001	0	0	0	0	0	0	8.82e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.883	0.62825	P	0.000026	0.55875	N	0.157687	1	0.81001	D	4.24	0.98003	H	-3.53	0.94764	D	-6.56	0.94729	D	0.773	0.77039	1.073	0.98681	D	0.928	0.97618	D	10	0.944948	0.93819	D	0.446775	0.94267	D	0.907	0.97474	.	.	0.92771207812	0.92697	0.9298499097708051	0.92962	1.89919045449	0.92792	0.923894047737	0.98605	D	0.938578	0.99018	D	0.52276	0.94996	D	0.513132	0.94922	D	0.997602641582489	0.91964	D	0.995839	0.98641	D	0.6718791	0.76533	0.38225654	0.63216	0.6718791	0.76534	0.38225654	0.63216	-13.722	0.92118	D	.	.	0.596	0.68723	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.240142	0.87974	29.4	0.99889999742379487	0.96436	0.97487	0.75066	D	AEFBI	0.715673	0.66776	D	0.5959875161342	0.72923	5.882846	0.513763785658222	0.68913	5.286423	0.999997087043509	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.97	5.1	0.68917	5.952000	0.70000	9.898000	0.82326	-0.119000	0.14319	1.000000	0.71638	1.000000	0.68203	0.452000	0.27939	0.0666:0.0:0.9334:0.0	15.418	0.74707	964	0.07719	.;NAD(P)-binding domain;.;NAD-dependent epimerase/dehydratase;NAD(P)-binding domain;NAD(P)-binding domain;NAD(P)-binding domain;NAD(P)-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	528.98	35	chr2	106125656	.	G	A	528.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=769;ExcessHet=0.0000;FS=2.156;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.90;ReadPosRankSum=0.733;SOR=0.900	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1069	20	0	1	0
chr2	106436164	106436164	G	A	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon12:c.C1717T:p.P573S,	.	.	141	1372	9	0	0	9	0.00326916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.999	D	0.992	D	.	.	0.638	D	2.075	M	0.43	T	-0.337	T	0.286	T	0.366	2.470	14.22	2.52	1.430	8.115	10.792	0.388	0.0976957232948	.	0.000798722	0.0044	0.0014	0.0014	0	0.0015	0.0068	0.0050	0.0027	0.0013063	34	26028	rs201304359	0.0063	0.0063	0.0065	0.0061	0.0076	0.0062	0.0062	0.0075	0.0074	0.0010	0.0014	0.0006	0	0.0013	0.0015	0.0076	0.0050	0.0030	0.0036	0.0036	0.0041	0.0032	0.0063	0.0034	0.0033	0.0058	0.0056	0.0011	0.0121	0.0021	0	0	0.0010	0.0034	0.0063	0.0043	0.0023	0.076	0.34269	T	0.096	0.39340	T	0.999	0.77913	D	0.992	0.80445	D	.	.	.	.	0.638051	0.32850	D	2.645	0.77386	M	0.43	0.56772	T	-4.7	0.79829	D	0.854	0.85027	-0.3366	0.73942	T	0.286	0.65773	T	9	0.026748925	0.00834	T	0.097696	0.76817	D	0.388	0.70440	.	.	0.21737058555	0.21362	0.06601562632331034	0.06540	.	.	0.659470915794	0.61333	T	0.099796	0.40495	T	-0.327255	0.06322	T	-0.239687	0.50830	T	0.0814774497545075	0.10176	T	0.968103	0.88413	D	0.25900188	0.48951	0.31493145	0.57482	0.25900188	0.48951	0.31493145	0.57482	-9.534	0.71070	D	.	.	0.638	0.70450	P	.;.	.;.	4.231369	0.64084	24.7	0.9981977326991035	0.90238	0.96046	0.67288	D	AEFI	0.699727	0.65698	D	0.447869363654157	0.64080	4.654958	0.322483882324024	0.56862	3.850437	0.00207827672419295	0.09135	0.693126	0.56070	0	0.670034	0.63936	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	2.52	2.52	0.29514	8.268000	0.89807	11.823000	0.97298	0.322000	0.19397	1.000000	0.71638	1.000000	0.68203	0.700000	0.34141	0.0:0.0:1.0:0.0	10.792	0.45642	904	0.23766	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3394.11	33	chr2	106436164	.	G	A	3394.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.92;DP=988;ExcessHet=0.1072;FS=4.281;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=41.52;MQRankSum=-2.533e+00;QD=10.01;ReadPosRankSum=0.929;SOR=0.508	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1403	19	0	2	0
chr2	106436768	106436768	G	A	exonic	RGPD3	.	stopgain	RGPD3:NM_001144013:exon10:c.C1363T:p.R455X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	5.198	33	2.52	1.430	3.655	10.792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1453151376	3.201e-05	3.153e-05	3.743e-05	2.648e-05	0.0010	2.427e-05	2.161e-05	0.0003	0.0002	0	8.3e-05	0	2.801e-05	0	0.0010	3.022e-05	1.755e-05	3.844e-05	4.989e-05	6.66e-05	3.133e-05	7.09e-05	9.517e-05	2.091e-05	1.476e-05	2.309e-05	1.384e-05	0	0	9.517e-05	0	0	0	0.0035	6.899e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.367	0.40864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.360264	0.87273	D	0.544146	0.95508	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	7.665804	0.96743	36	0.99822111011139769	0.90502	0.85766	0.44935	D	AEFI	0.126740	0.24381	N	0.463720955796487	0.64986	4.765966	0.234462444329408	0.51768	3.35672	2.35695226732246E-5	0.03498	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	2.52	2.52	0.29514	3.805000	0.55280	3.953000	0.40689	0.322000	0.19397	1.000000	0.71638	1.000000	0.68203	0.853000	0.40368	0.0:0.0:1.0:0.0	10.792	0.45642	904	0.23766	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	300.98	33	chr2	106436768	.	G	A	300.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.18;DP=480;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=26.34;MQRankSum=-3.100e-01;QD=8.36;ReadPosRankSum=-1.121e+00;SOR=0.354	GT:AD:DP:GQ:PL	0/0:18,0:18:45:0,45,675	20	0	1	0
chr2	106468221	106468221	C	G	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon1:c.G68C:p.R23P,	.	.	5	1502	15	0	0	15	0.00496853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.989	D	0.859	P	.	.	0.998	N	1.355	L	1.0	T	-1.060	T	0.079	T	0.475	-0.325	2.458	1.8	0.984	1.209	7.025	0.084	.	0.0009	0.0167732	0.0148	0.0005	0.0012	0.0337	0	0.0005	0.0090	0.0759	0.0085898	1328	154602	rs114641853	0.0048	0.0049	0.0033	0.0064	0.0591	0.0047	0.0047	0.0577	0.0571	0.0002	0.0004	0	0.0299	0	0.0015	0.0005	0.0047	0.0591	0.0030	0.0030	0.0019	0.0041	0.0630	0.0027	0.0027	0.0571	0.0549	0.0002	0	0.0003	0	0.0191	0	0.0034	0.0004	0.0024	0.0630	0.037	0.43085	D	0.058	0.46406	T	0.989	0.62824	D	0.859	0.61184	P	.	.	.	.	0.998387	0.22188	N	2.125	0.59049	M	1.0	0.41392	T	-3.28	0.65627	D	0.515	0.54584	-1.0598	0.11805	T	0.079	0.31314	T	9	0.0034672916	0.00061	T	.	.	.	0.084	0.24469	.	.	0.159798565429	0.15598	0.0477392602249862	0.04716	.	.	0.801177322865	0.82142	T	0.043613	0.26557	T	-0.458615	0.01003	T	-0.387523	0.34843	T	0.0518186714386404	0.05817	T	0.676832	0.28555	T	0.35388973	0.57368	0.45053053	0.68024	0.35388973	0.57368	0.45053053	0.68025	-3.311	0.13879	T	.	.	0.199	0.50898	B	.;.	.;.	2.480057	0.31981	18.90	0.58543926219636166	0.06017	0.19323	0.20616	N	AEFDI	0.117440	0.23006	N	-0.227247272579008	0.32020	1.801393	-0.442561024818947	0.23760	1.29745	3.42504440729709E-5	0.03775	0.615465	0.37627	0	0.550933	0.16991	0	0.489635	0.07774	0	0.655142	0.61905	0	.	.	1.8	1.8	0.24069	1.807000	0.38540	7.136000	0.57639	0.265000	0.18437	0.947000	0.32937	1.000000	0.68203	0.050000	0.15192	0.0:1.0:0.0:0.0	7.025	0.24113	864	0.32732	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1817.98	34	chr2	106468221	.	C	G	1817.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.810e-01;DP=848;ExcessHet=0.0000;FS=2.186;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.42;MQRankSum=2.60;QD=13.37;ReadPosRankSum=0.696;SOR=0.524	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1203	20	0	1	0
chr2	106468264	106468264	C	A	exonic	RGPD3	.	stopgain	RGPD3:NM_001144013:exon1:c.G25T:p.E9X,	.	.	6	1506	10	0	0	10	0.00330907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	3.425	17.58	1.8	0.984	3.375	7.025	.	.	0.0046	0.000998403	0.0049	0.0013	0.0009	0	0.0020	0.0073	0.0062	0.0030	0.0032729	506	154602	rs200527401	0.0063	0.0063	0.0064	0.0061	0.0076	0.0062	0.0061	0.0074	0.0074	0.0010	0.0013	0.0006	0	0.0013	0.0017	0.0076	0.0049	0.0031	0.0036	0.0036	0.0040	0.0031	0.0062	0.0033	0.0032	0.0057	0.0055	0.0011	0.0121	0.0021	0	0	0.0010	0.0034	0.0062	0.0047	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.089	0.06720	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176547	0.71724	D	0.483989	0.94285	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	7.810635	0.96884	36	0.99508253724283346	0.68440	0.59362	0.30894	D	AEFDI	0.040822	0.06125	N	0.520984339305695	0.68330	5.202632	0.20812403011563	0.50297	3.223315	3.42504440729709E-5	0.03775	0.679555	0.55442	0	0.514364	0.08380	0	0.600882	0.32295	2	0.613276	0.41899	0	.	.	1.8	1.8	0.24069	3.158000	0.50422	7.168000	0.57719	0.265000	0.18437	1.000000	0.71638	1.000000	0.68203	0.232000	0.22788	0.0:1.0:0.0:0.0	7.025	0.24113	864	0.32732	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3317.11	34	chr2	106468264	.	C	A	3317.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.921;DP=998;ExcessHet=0.1072;FS=1.008;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.36;ReadPosRankSum=3.17;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1203	19	0	2	0
chr2	106813156	106813156	A	G	exonic	ST6GAL2	.	nonsynonymous SNV	ST6GAL2:NM_001142352:exon6:c.T1387C:p.W463R,	.	.	477	1038	7	0	0	7	0.00336054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	.	.	1.54	T	-1.007	T	0.055	T	0.076	-1.159	0.096	.	0.103	0.780	.	0.042	.	0.0044	0.000798722	0.0067	0.0008	0	0	0.0010	0.0081	0	0.0151	0.0009444	146	154602	rs200605446	0.0059	0.0051	0.0061	0.0058	0.0068	0.0058	0.0058	0.0067	0.0066	0.0008	0.0009	0	0	0.0004	0.0017	0.0068	0.0039	0.0022	0.0033	0.0033	0.0036	0.0031	0.0056	0.0031	0.0030	0.0051	0.0049	0.0011	0.0122	0.0033	0	0	0.0001	0.0035	0.0056	0.0034	0.0019	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.54	0.30133	T	5.5	0.00015	N	0.303	0.34228	-1.0067	0.27943	T	0.055	0.23148	T	4	0.005378127	0.00118	T	.	.	.	0.042	0.11227	0.414	0.45216	0.183819452728	0.17975	.	.	.	.	.	.	.	.	.	.	-0.629577	0.00096	T	-0.669159	0.07662	T	0.0427707527022904	0.04196	T	0.152985	0.01314	T	.	.	.	.	.	.	.	.	-2.445	0.05416	T	.	.	0.189	0.40683	B	.	.	0.298370	0.06740	3.255	0.38758578689221168	0.02633	0.05170	0.10987	N	AEFI	0.026739	0.02061	N	-0.671035362527751	0.16851	0.8621118	-0.907709831414495	0.11912	0.6097471	0.00438912569728279	0.10527	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.820000	0.26979	.	.	0.187000	0.17834	0.327000	0.25564	.	.	0.049000	0.15107	.	.	.	860	0.33753	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3373.12	82	chr2	106813156	.	A	G	3373.12	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.144;DP=1463;ExcessHet=0.1072;FS=4.132;InbreedingCoeff=-0.0504;MLEAC=2;MLEAF=0.048;MQ=59.91;MQRankSum=1.37;QD=11.96;ReadPosRankSum=0.325;SOR=0.483	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	19	0	2	0
chr2	107838873	107838873	G	T	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon4:c.G314T:p.C105F,	.	.	354	1158	9	1	0	11	0.00472712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.91	P	0.374	B	.	.	0.816	N	2.005	M	1.29	T	-0.943	T	0.075	T	0.368	0.660	7.539	2.48	1.379	6.456	11.902	0.203	.	0.0064	.	0.0083	0.0012	0.0032	0.0001	0.0002	0.0135	0.0072	0.0051	0.0004226	11	26028	rs201257819	0.0068	0.0076	0.0068	0.0067	0.0113	0.0066	0.0066	0.0084	0.0076	0.0016	0.0026	0.0054	2.689e-05	0.0006	0.0113	0.0078	0.0064	0.0041	0.0009	0.0037	0.0009	0.0008	0.0014	0.0007	0.0006	0.0011	0.0010	0.0004	0	0.0003	0.0006	0	0.0004	0.0085	0.0014	0.0011	0	0.003	0.68238	D	0.1	0.38742	T	0.91	0.50240	P	0.374	0.43683	B	.	.	.	.	0.815926	0.28943	N	1.795	0.47270	L	1.29	0.35775	T	-5.66	0.87063	D	0.756	0.75466	-0.9425	0.42218	T	0.075	0.30303	T	9	0.013834447	0.00292	T	.	.	.	0.203	0.48915	.	.	0.26547132957	0.26150	0.055147581009005346	0.05455	.	.	0.735643208027	0.72332	T	0.129151	0.45725	T	-0.41153	0.01941	T	-0.360603	0.37984	T	0.0675463819058475	0.08302	T	0.922608	0.71859	D	0.68219423	0.77088	0.79595137	0.88016	0.68219423	0.77089	0.79595137	0.88017	-3.589	0.17698	T	.	.	0.385	0.58733	A	.	.	4.411628	0.68252	25.2	0.91849717677320597	0.21162	0.80262	0.39946	D	AEFI	0.401190	0.47578	N	0.157169927235108	0.49153	3.118827	0.0835817840959671	0.43722	2.66822	2.53260807916806E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.48	2.48	0.29194	6.634000	0.74149	11.785000	0.96215	0.309000	0.19094	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:1.0:0.0	11.902	0.51974	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	391.98	47	chr2	107838873	.	G	T	391.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.340e-01;DP=814;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=27.96;MQRankSum=-5.420e-01;QD=8.17;ReadPosRankSum=1.50;SOR=0.680	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,105,1575	20	0	1	0
chr2	107854628	107854628	C	T	exonic	RGPD4	.	stopgain	RGPD4:NM_182588:exon8:c.C1051T:p.R351X,	.	.	232	1278	12	0	0	12	0.0046729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	4.531	24.4	2.86	1.439	2.949	10.52	.	.	.	0.00199681	0.0025	0.0019	0	0	0.0010	0.0026	0	0.0096	0.000608	94	154602	rs199689821	0.0016	0.0016	0.0014	0.0017	0.0057	0.0015	0.0015	0.0052	0.0050	0.0005	0.0003	0.0010	5.617e-05	0.0020	0.0042	0.0014	0.0015	0.0057	0.0012	0.0012	0.0012	0.0012	0.0060	0.0010	0.0010	0.0042	0.0037	0.0005	0	0.0007	0.0015	0	0.0004	0.0103	0.0015	0.0034	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.423	0.46274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201619	0.74043	D	0.520981	0.95039	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.743214	0.97962	38	0.99722535285569436	0.82125	0.79524	0.39423	D	AEFI	0.092975	0.18816	N	0.482794992078414	0.66085	4.904803	0.254461367745698	0.52903	3.462162	9.66782446024917E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	2.86	2.86	0.32427	3.103000	0.49990	7.704000	0.66446	0.271000	0.18527	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:1.0:0.0:0.0	10.52	0.44101	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	277.09	33	chr2	107854628	.	C	T	277.09	.	AC=2;AF=0.048;AN=42;DP=518;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.9982;MLEAC=2;MLEAF=0.048;MQ=32.69;QD=27.71;SOR=0.693	GT:AD:DP:GQ:PL	0/0:23,0:23:63:0,63,718	20	1	0	0
chr2	107859505	107859505	C	A	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon11:c.C1585A:p.Q529K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.981	D	0.899	P	.	.	0.521	N	2.125	M	0.61	T	-0.488	T	0.242	T	0.607	0.546	6.957	2.6	1.299	6.722	11.866	0.224	0.00893160145094	.	0.000599042	0.0002	0	0	0.0024	0	1.509e-05	0	0	0.0001617	25	154602	rs544450894	2.261e-05	2.257e-05	3.136e-05	1.377e-05	0.0008	1.613e-05	1.419e-05	0.0006	0.0005	0	0	0	0.0008	0	0	0	3.323e-05	0	6.595e-05	7.222e-05	6.451e-05	6.745e-05	0.0015	3.529e-05	2.625e-05	0.0008	0.0006	0	0	0	0	0.0015	0	0	2.942e-05	0	0	0.0	0.91255	D	0.009	0.66756	D	0.981	0.59675	D	0.899	0.63802	P	.	.	.	.	0.521369	0.31566	N	2.67	0.78151	M	0.61	0.53516	T	-2.86	0.60188	D	0.842	0.83781	-0.4882	0.69072	T	0.242	0.60976	T	9	0.20537758	0.36762	T	0.008932	0.23535	T	0.224	0.52174	0.386	0.40624	0.225215365344	0.22153	0.3540973771329714	0.35323	.	.	0.678269505501	0.64021	T	0.124903	0.45025	T	-0.281376	0.10522	T	-0.201581	0.54496	T	0.370689297916508	0.27824	T	0.965703	0.87317	D	0.5794217	0.71577	0.6175451	0.77731	0.5794217	0.71578	0.6175451	0.77732	-2.588	0.06413	T	.	.	0.836	0.79019	P	.	.	3.751980	0.53785	23.4	0.84780169375017278	0.15493	0.95677	0.65689	D	AEFI	0.602461	0.59432	D	0.150027438260031	0.48813	3.089029	-0.0377721180348309	0.38022	2.234386	0.0182806054453688	0.13040	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	2.6	2.6	0.30173	6.836000	0.75141	7.710000	0.66754	0.271000	0.18527	1.000000	0.71638	1.000000	0.68203	0.629000	0.32131	0.0:1.0:0.0:0.0	11.866	0.51768	963	0.08280	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1757.98	37	chr2	107859505	.	C	A	1757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.76;DP=996;ExcessHet=0.0000;FS=2.927;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.08;MQRankSum=-2.240e-01;QD=11.57;ReadPosRankSum=0.681;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,99,1485	20	0	1	0
chr2	107863009	107863009	C	T	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon17:c.C2446T:p.R816C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.0	B	0.0	B	.	.	0.922	N	-1.995	N	2.14	T	-0.989	T	0.012	T	0.211	-2.419	0.003	2.3	0.150	5.092	6.362	0.099	0.00749810394954	.	.	0.0030	0.0056	0.0018	0.0013	0.0026	0.0026	0.0038	0.0054	3.84e-05	1	26028	rs766011043	3.09e-05	3.763e-05	2.937e-05	3.244e-05	3.214e-05	2.342e-05	2.086e-05	2.333e-05	2.065e-05	0	0	0	0	0.0001	0	3.214e-05	3.419e-05	1.224e-05	6.997e-05	0.0001	5.975e-05	8.106e-05	9.111e-05	3.585e-05	2.677e-05	2.414e-05	1.326e-05	9.111e-05	0	0	0	0	0.0003	0	6.529e-05	0	0	1.0	0.00964	T	0.208	0.26883	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.921769	0.27276	N	-2.425	0.00069	N	2.14	0.19450	T	7.05	0.00003	N	0.39	0.43126	-0.9890	0.32853	T	0.012	0.04747	T	9	0.008809537	0.00200	T	0.007498	0.19899	T	0.099	0.28413	0.351	0.34922	0.0401082797425	0.02173	0.05841745805818003	0.05782	.	.	0.681491017342	0.64482	T	0.019668	0.15628	T	-0.261368	0.12740	T	-0.613214	0.11725	T	0.0050751572938049	0.00055	T	0.779322	0.41328	T	0.046607945	0.07831	0.06377719	0.12685	0.046607945	0.07830	0.06377719	0.12684	5.38	0.00002	T	.	.	0.059	0.00780	B	.	.	3.543328	0.49775	22.8	0.082087098339994405	0.00060	0.02150	0.06324	N	AEFI	0.042708	0.06661	N	-1.15873268568843	0.05638	0.2575266	-0.973235833793755	0.10389	0.5229182	1.09470275652647E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.3	2.3	0.27735	5.109000	0.64456	6.234000	0.55243	-0.679000	0.04243	1.000000	0.71638	1.000000	0.68203	0.381000	0.26357	0.0:0.1351:0.0:0.8649	6.362	0.20640	963	0.08280	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1471.98	114	chr2	107863009	.	C	T	1471.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.25;DP=1600;ExcessHet=0.0000;FS=8.009;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=40.10;MQRankSum=-6.730e-01;QD=18.17;ReadPosRankSum=-1.127e+00;SOR=1.571	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:65,0:65:99:.:.:0,120,1800	20	0	1	0
chr2	107863015	107863015	G	C	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon17:c.G2452C:p.E818Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-1.995	N	2.09	T	-0.957	T	0.010	T	0.125	-3.127	0.001	2.3	0.303	2.248	5.746	0.049	0.00254934695365	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1185166956	2.103e-05	2.532e-05	2.095e-05	2.112e-05	2.11e-05	1.492e-05	1.295e-05	1.405e-05	1.174e-05	0	0	0	0	9.527e-05	0	2.11e-05	3.411e-05	0	3.939e-05	4.668e-05	3.026e-05	4.93e-05	4.95e-05	1.452e-05	9.36e-06	1.314e-05	6.64e-06	0	0	0	0	0	0.0003	0	4.95e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999546	0.21009	N	-1.485	0.00523	N	2.09	0.20122	T	1.71	0.00570	N	0.187	0.20395	-0.9565	0.39825	T	0.010	0.03582	T	9	0.03294137	0.01457	T	0.002549	0.05121	T	0.049	0.13647	0.225	0.14960	0.0138822411134	0.00435	0.07698888234091501	0.07634	.	.	0.682731330395	0.64661	T	0.006837	0.06266	T	-0.305926	0.08113	T	-0.677218	0.07155	T	0.020782433699347	0.00778	T	0.378962	0.09121	T	0.046814393	0.07898	0.037605986	0.03450	0.046814393	0.07897	0.037605986	0.03450	-7.209	0.55546	T	.	.	0.171	0.37615	B	.	.	2.369636	0.30405	18.43	0.092779009446700006	0.00091	0.04028	0.09464	N	AEFI	0.037112	0.05053	N	-1.51398607041552	0.01757	0.07695381	-1.29925080203735	0.04441	0.2094958	2.38726055354434E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.3	2.3	0.27735	2.323000	0.43482	4.963000	0.46353	-0.790000	0.03253	1.000000	0.71638	1.000000	0.68203	0.200000	0.21896	0.2226:0.56:0.2174:0.0	5.746	0.17390	963	0.08280	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1401.98	114	chr2	107863015	.	G	C	1401.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.67;DP=1594;ExcessHet=0.0000;FS=8.108;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.51;MQRankSum=-6.470e-01;QD=18.21;ReadPosRankSum=-8.070e-01;SOR=1.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:65,0:65:99:.:.:0,120,1800	20	0	1	0
chr2	107863021	107863021	A	G	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon17:c.A2458G:p.K820E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	0.996	N	-2.045	N	2.1	T	-0.962	T	0.010	T	0.172	-2.039	0.006	2.3	0.312	6.508	7.990	0.118	0.00185178221873	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1425230152	2.042e-05	2.942e-05	2.104e-05	1.979e-05	2.027e-05	1.433e-05	1.239e-05	1.327e-05	1.133e-05	0	0	0	0	9.547e-05	0	2.027e-05	3.427e-05	0	3.978e-05	4.659e-05	3.057e-05	4.977e-05	5.002e-05	1.563e-05	9.45e-06	1.328e-05	6.68e-06	0	0	0	0	0	0.0003	0	5.002e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.996059	0.23127	N	-2.455	0.00064	N	2.1	0.19990	T	1.97	0.00421	N	0.296	0.33469	-0.9618	0.38839	T	0.010	0.03627	T	9	0.044572175	0.03428	T	0.001852	0.03219	T	0.118	0.32913	0.274	0.22528	0.0297737177859	0.01360	0.037541671494561835	0.03700	.	.	0.653557062149	0.60491	T	0.006787	0.06218	T	-0.250449	0.14043	T	-0.597529	0.13019	T	0.0781928848828909	0.09754	T	0.654235	0.26451	T	0.065219015	0.13917	0.09678615	0.23011	0.065219015	0.13917	0.09678615	0.23010	-2.853	0.08682	T	.	.	0.082	0.08899	B	.	.	2.731569	0.35759	19.98	0.13604876327655771	0.00274	0.02951	0.07781	N	AEFI	0.021647	0.00987	N	-1.30102668987557	0.03664	0.1640726	-1.08624337370419	0.07970	0.3898958	4.30747365962144E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.3	2.3	0.27735	6.686000	0.74378	9.984000	0.82942	-0.731000	0.03728	1.000000	0.71638	1.000000	0.68203	0.172000	0.21044	0.1351:0.0:0.8649:0.0	7.990	0.29394	963	0.08280	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1292.98	114	chr2	107863021	.	A	G	1292.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.350;DP=1591;ExcessHet=0.0000;FS=4.893;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.18;MQRankSum=-4.570e-01;QD=17.47;ReadPosRankSum=-5.490e-01;SOR=1.417	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:65,0:65:99:.:.:0,120,1800	20	0	1	0
chr2	107866317	107866317	C	T	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon18:c.C2597T:p.P866L,	.	.	380	1141	1	0	0	1	0.00043802	.	.	2357180	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.999	D	0.994	D	.	.	0.999	D	2.045	M	1.64	T	-0.871	T	0.157	T	0.442	0.528	6.862	2.3	1.299	5.834	11.562	0.250	0.0110365245513	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1304073085	0.0009	0.0005	0.0003	0.0014	0.0076	0.0008	0.0008	0.0070	0.0067	0	0	0	0	0	0.0010	0.0001	0.0005	0.0076	8.677e-05	0.0002	4.924e-05	0.0001	0.0023	4.678e-05	3.489e-05	0.0010	0.0007	6.7e-05	0	0	0	0.0002	0	0	1.816e-05	0	0.0023	0.004	0.65419	D	0.183	0.29153	T	0.999	0.77913	D	0.994	0.82059	D	.	.	.	.	0.99912	0.46125	D	0.975	0.24501	L	1.64	0.27822	T	-6.16	0.90215	D	0.463	0.49965	-0.8710	0.50454	T	0.157	0.48976	T	9	0.08731833	0.14928	T	0.011037	0.28250	T	0.250	0.55888	0.566	0.68768	0.202949470691	0.19918	0.10854570357082648	0.10783	.	.	0.860913217068	0.91246	D	0.097203	0.39979	T	-0.406129	0.02110	T	-0.362937	0.37713	T	0.351023687143535	0.27059	T	0.975302	0.91244	D	0.39065957	0.60079	0.3718785	0.62408	0.39065957	0.60079	0.3718785	0.62408	-7.095	0.54724	T	.	.	0.333	0.55431	B	.	.	4.171052	0.62719	24.5	0.92484815088312411	0.21917	0.89126	0.49406	D	AEFI	0.601940	0.59399	D	0.357740105726279	0.59150	4.092027	0.228603457767364	0.51441	3.326538	0.00477057778156677	0.10704	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	2.3	2.3	0.27735	5.956000	0.70034	6.010000	0.52630	0.253000	0.18341	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:1.0:0.0:0.0	11.562	0.50036	963	0.08280	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	140.01	21	chr2	107866317	.	C	T	140.01	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=341;ExcessHet=0.0000;FS=4.876;InbreedingCoeff=-0.0265;MLEAC=1;MLEAF=0.024;MQ=24.43;MQRankSum=0.038;QD=6.67;ReadPosRankSum=0.072;SOR=0.132	GT:AD:DP:GQ:PL	0/0:15,0:15:45:0,45,561	20	0	1	0
chr2	107871325	107871325	A	C	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon20:c.A3321C:p.K1107N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	0.501	N	2.9	M	0.56	T	-0.444	T	0.321	T	0.658	1.129	9.604	1.12	0.161	0.871	5.479	0.365	0.0121230758103	.	0.00139776	0.0016	0.0003	0.0038	0	0.0009	0.0021	0.0023	0	0.0006531	17	26028	rs200980418	0.0022	0.0022	0.0023	0.0021	0.0047	0.0022	0.0021	0.0042	0.0040	0.0006	0.0047	3.827e-05	0	0.0012	0.0010	0.0025	0.0020	2.321e-05	0.0024	0.0023	0.0022	0.0026	0.0100	0.0022	0.0021	0.0087	0.0082	0.0006	0	0.0100	0	0	0.0014	0	0.0024	0.0026	0	0.012	0.54683	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.500522	0.31729	N	3.385	0.91502	M	0.56	0.54540	T	-3.53	0.68532	D	0.912	0.91391	-0.4441	0.70594	T	0.321	0.68995	T	9	0.071312815	0.10493	T	0.012123	0.30406	T	0.365	0.68495	0.592	0.72123	0.144782658237	0.14088	0.10020606149708827	0.09951	.	.	0.883420944214	0.94417	D	0.22043	0.58372	T	0.0601424	0.59632	T	-0.151386	0.59121	T	0.0999534385549091	0.12352	T	0.829117	0.49388	T	0.28674683	0.51688	0.2920394	0.55229	0.28674683	0.51688	0.2920394	0.55228	-12.143	0.85541	D	.	.	0.533	0.66046	A	.	.	2.961532	0.39439	21.0	0.9977851211767601	0.86519	0.70451	0.34596	D	AEFI	0.291769	0.40281	N	0.145366499915926	0.48592	3.069657	-0.067779498764652	0.36731	2.141357	2.52073302086245E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	2.33	1.12	0.19700	1.202000	0.31878	2.537000	0.33196	0.333000	0.19617	1.000000	0.71638	1.000000	0.68203	0.289000	0.24236	0.7143:0.0:0.2857:0.0	5.479	0.16004	963	0.08280	Ran binding domain|Ran binding domain|Ran binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	6640.98	246	chr2	107871325	.	A	C	6640.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.856e+00;DP=2765;ExcessHet=0.0000;FS=44.074;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=48.78;MQRankSum=11.09;QD=16.60;ReadPosRankSum=-2.930e-01;SOR=0.147	GT:AD:DP:GQ:PL	0/0:244,0:244:99:0,120,1800	20	0	1	0
chr2	107872362	107872362	-	GGCAGAC	exonic	RGPD4	.	frameshift insertion	RGPD4:NM_182588:exon20:c.4358_4359insGGCAGAC:p.S1456Cfs*5,	.	.	151	1362	9	0	0	9	0.00329308	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0004	0	0	3.84e-05	1	26028	rs748128496	0.0017	0.0017	0.0017	0.0017	0.0017	0.0016	0.0016	0.0015	0.0015	0.0002	0.0005	0	0	0.0097	0.0017	0.0015	0.0020	0.0014	0.0014	0.0016	0.0013	0.0015	0.0015	0.0013	0.0012	0.0012	0.0011	0.0002	0	0.0013	0	0	0.0080	0	0.0015	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4289.05	34	chr2	107872362	.	T	TGGCAGAC	4289.05	.	AC=2;AF=0.048;AN=42;DP=957;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=30.66;QD=34.43;SOR=2.325	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:54,0:54:99:.:.:0,120,1800	20	1	0	0
chr2	107872363	107872363	-	CGTTTTCGTTTTAAACTACAGGATGTG	exonic	RGPD4	.	nonframeshift insertion	RGPD4:NM_182588:exon20:c.4359_4360insCGTTTTCGTTTTAAACTACAGGATGTG:p.V1453_A1454insRFRFKLQDV,	.	.	151	1357	9	0	5	14	0.00330518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0004	0	0	3.84e-05	1	26028	rs769666020	0.0017	0.0017	0.0017	0.0017	0.0017	0.0016	0.0016	0.0015	0.0015	0.0002	0.0005	0	0	0.0097	0.0017	0.0015	0.0020	0.0014	0.0014	0.0016	0.0012	0.0016	0.0014	0.0012	0.0012	0.0012	0.0011	0.0002	0	0.0013	0	0	0.0078	0	0.0014	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4294.05	34	chr2	107872363	.	T	TCGTTTTCGTTTTAAACTACAGGATGTG	4294.05	.	AC=2;AF=0.048;AN=42;DP=950;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=30.27;QD=29.74;SOR=2.325	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:54,0:54:99:.:.:0,120,1800	20	1	0	0
chr2	107872592	107872592	A	C	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon20:c.A4588C:p.T1530P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.07	B	0.021	B	.	.	0.971	N	1.085	L	0.95	T	-1.026	T	0.068	T	0.061	-0.705	0.956	1.05	0.129	1.267	3.319	0.043	.	.	0.00479233	0.0064	0.0008	0.0642	0.0009	0	0.0002	0.0038	0.0004	0.0038804	101	26028	rs2556257	0.0020	0.0020	0.0022	0.0018	0.0526	0.0019	0.0019	0.0509	0.0501	0.0009	0.0526	3.832e-05	0.0005	0	0	0.0003	0.0022	0.0005	0.0044	0.0050	0.0035	0.0053	0.0413	0.0041	0.0040	0.0385	0.0374	0.0009	0	0.0413	0	0.0004	0	0	0.0001	0.0026	0.0002	0.143	0.25355	T	0.216	0.26226	T	0.07	0.23866	B	0.021	0.19346	B	.	.	.	.	0.971051	0.25673	N	1.7	0.43825	L	0.95	0.43279	T	-2.01	0.46337	N	0.088	0.06587	-1.0263	0.21658	T	0.068	0.27811	T	9	0.0028708577	0.00046	T	.	.	.	0.043	0.11576	.	.	0.128392430309	0.12331	0.021733653155509985	0.02125	.	.	0.545857310295	0.45273	T	0.006799	0.06227	T	-0.639432	0.00084	T	-0.652546	0.08776	T	0.0120693119659838	0.00191	T	0.424058	0.11326	T	0.22810344	0.45524	0.17820194	0.40474	0.22810344	0.45524	0.17820194	0.40473	-3.586	0.17654	T	.	.	0.089	0.12228	B	.	.	3.017090	0.40364	21.2	0.7981406839661167	0.12913	0.76704	0.37640	D	AEFI	0.418860	0.48632	N	-0.622636893062919	0.18265	0.9469035	-0.586219813235158	0.19851	1.066981	3.42095844534844E-5	0.03775	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	2.33	1.05	0.19280	1.264000	0.32618	4.157000	0.42186	0.333000	0.19617	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.5927:0.2603:0.1469:0.0	3.319	0.06630	963	0.08280	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1208.98	34	chr2	107872592	.	A	C	1208.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.524e+00;DP=902;ExcessHet=0.0000;FS=2.203;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=34.28;MQRankSum=-3.030e-01;QD=13.74;ReadPosRankSum=-1.630e-01;SOR=0.429	GT:AD:DP:GQ:PL	0/1:45,43:88:99:1223,0,1318	20	0	1	0
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	55301.27	201	chr2	108259015	.	G	T,*	55301.27	.	AC=18,12;AF=0.429,0.286;AN=42;BaseQRankSum=2.01;DP=3832;ExcessHet=0.0944;FS=0.000;InbreedingCoeff=0.3000;MLEAC=18,12;MLEAF=0.429,0.286;MQ=60.00;MQRankSum=0.00;QD=15.51;ReadPosRankSum=-1.780e-01;SOR=0.682	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0,0:35:99:.:.:0,102,1175,102,1175,1175	3	5	3	0
chr2	108294337	108294337	G	A	exonic	SULT1C2	.	nonsynonymous SNV	SULT1C2:NM_001056:exon3:c.G260A:p.R87Q	.	.	411	1101	8	2	0	12	0.00542005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.964	D	0.527	P	0.465	N	1.000	N	1.23	L	4.66	T	-0.734	T	0.300	T	0.335	3.811	19.35	1.95	0.207	0.164	2.929	0.096	.	0.0021	0.00119808	0.0050	0.0009	0.0005	0.0002	0.0174	0.0064	0.0121	0.0021	0.0044695	691	154602	rs149311077	0.0032	0.0032	0.0032	0.0032	0.0029	0.0031	0.0031	0.0028	0.0028	0.0005	0.0007	0.0046	0.0004	0.0164	0.0019	0.0029	0.0030	0.0023	0.0033	0.0033	0.0023	0.0043	0.0032	0.0030	0.0029	0.0029	0.0027	0.0006	0	0.0005	0.0052	0.0004	0.0207	0.0034	0.0032	0.0014	0.0013	0.628	0.14843	T	0.675	0.15406	T	0.927	0.55854	P	0.422	0.48453	B	0.465481	0.12341	N	0.757763	1	0.08975	N	2.225	0.63025	M	-1.61	0.82347	D	-0.57	0.19720	N	0.231	0.32812	-0.7343	0.58745	T	0.300	0.67111	T	10	0.0053875744	0.00118	T	.	.	.	0.096	0.27654	.	.	0.701138428994	0.69855	0.2990689431141426	0.29819	0.0347202142478	0.03653	0.39361551404	0.24178	T	0.054717	0.57414	T	-0.33367	0.05838	T	-0.249736	0.49844	T	0.0186508285668156	0.00579	T	0.0826917	0.00846	T	0.12951848	0.30247	0.06226374	0.12156	0.12951848	0.30247	0.06226374	0.12155	-3.683	0.19067	T	.	.	0.163	0.35992	B	.;.;.;.;.	.;.;.;.;.	1.908481	0.24238	16.32	0.99741973710258558	0.83555	0.03928	0.09319	N	AEFDBI	0.103275	0.20695	N	-0.367386910545751	0.26638	1.455343	-0.469435011218826	0.23001	1.252123	0.405242982524678	0.20165	0.713056	0.82018	0	0.573888	0.26702	0	0.608524	0.38960	0	0.542086	0.14980	0	.	.	4.81	1.95	0.25130	0.032000	0.13620	-0.351000	0.09744	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.957000	0.51019	0.0891:0.1575:0.4294:0.3239	2.929	0.05437	952	0.10565	Sulfotransferase domain;.;Sulfotransferase domain;.;Sulfotransferase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1271.98	35	chr2	108294337	.	G	A	1271.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.04;DP=818;ExcessHet=0.0000;FS=1.662;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.56;ReadPosRankSum=-1.556e+00;SOR=0.932	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1368	20	0	1	0
chr2	108659609	108659609	A	G	exonic	LIMS1	.	startloss	LIMS1:NM_001193482:exon2:c.A13G:p.M5V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.0	B	0.002	B	0.000	D	1.000	D	.	.	2.45	T	-1.014	T	0.100	T	0.917	3.191	16.68	4.63	1.938	9.135	14.202	0.376	0.0536504545754	.	0.000599042	0.0005	0	0	0	0	0	0	0.0032	0.0001153	3	26028	rs558476425	0.0002	0.0002	8.044e-05	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	0.0001	4.476e-05	0	0	0	0	1.799e-06	0.0002	0.0024	9.853e-05	0.0001	5.141e-05	0.0001	0.0019	6.005e-05	4.878e-05	0.0010	0.0007	9.618e-05	0	0	0	0	0	0	1.471e-05	0.0005	0.0019	0.034	0.45756	D	0.142	0.65728	T	0.0	0.02946	B	0.001	0.04355	B	0.000134	0.49741	D	0.134314	1	0.81001	D	.	.	.	1.56	0.30133	T	-0.58	0.74051	N	0.816	0.89353	-1.0143	0.25561	T	0.100	0.37060	T	9	0.01193285	0.00520	T	0.05365	0.65554	D	0.376	0.69443	.	.	0.187945064343	0.18414	0.1640348750896942	0.16323	.	.	0.674319148064	0.63454	T	0.020	0.46200	T	-0.085345	0.38842	T	0.100328	0.76931	D	0.0812846505000877	0.10151	T	0.951205	0.81406	D	0.45830756	0.64565	0.28766468	0.54779	0.45830756	0.64566	0.28766468	0.54779	-3.958	0.67103	T	.	.	0.119	0.57349	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.803750	0.54822	23.5	0.98322503200520517	0.40251	0.98303	0.81433	D	AEFBI	0.934838	0.92880	D	0.103476219614933	0.46624	2.899994	0.256272476671035	0.53005	3.471917	0.999999999639382	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.63	4.63	0.57175	9.321000	0.95528	11.195000	0.88811	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.202	0.65249	867	0.32089	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	528.98	34	chr2	108659609	.	A	G	528.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.000e+00;DP=749;ExcessHet=0.0000;FS=2.692;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.61;MQRankSum=-4.464e+00;QD=10.80;ReadPosRankSum=-7.800e-01;SOR=0.363	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1217	20	0	1	0
chr2	108763435	108763435	G	T	exonic	RANBP2	.	nonsynonymous SNV	RANBP2:NM_006267:exon20:c.G2896T:p.V966F,	.	.	1	1519	2	0	0	2	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.998	D	0.889	P	.	.	1.000	D	1.04	L	1.62	T	-1.003	T	0.127	T	0.741	2.939	15.80	5.19	2.570	7.962	19.087	0.223	0.014851084738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.33923	T	0.001	0.83351	D	0.998	0.73220	D	0.889	0.63100	P	.	.	.	.	0.997975	0.81001	D	2.16	0.60381	M	1.62	0.28189	T	-3.21	0.64826	D	0.584	0.60495	-1.0034	0.28933	T	0.127	0.43318	T	9	0.59004754	0.66328	D	0.014851	0.35231	T	0.223	0.52023	0.166	0.07071	0.491313100916	0.48765	0.6887896040147302	0.68818	0.475146259266	0.46692	0.67405974865	0.63417	T	0.744949	0.92966	D	0.0664727	0.60415	T	-0.142293	0.59919	T	0.870743259743357	0.52065	D	0.779722	0.41422	T	0.33517745	0.55893	0.3429482	0.60013	0.33517745	0.55893	0.3429482	0.60012	-3.922	0.22632	T	.	.	0.211	0.43882	B	.	.	3.734861	0.53444	23.4	0.99110145398610239	0.52699	0.97918	0.78116	D	AEFBCI	0.857690	0.77509	D	0.63236610813328	0.75231	6.269793	0.654697553849306	0.78961	6.982823	0.999999999999991	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	8.060000	0.89259	9.962000	0.82803	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	19.087	0.93192	836	0.38045	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1572.98	35	chr2	108763435	.	G	T	1572.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.430e-01;DP=816;ExcessHet=0.0000;FS=0.713;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.30;ReadPosRankSum=-5.120e-01;SOR=0.696	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1326	20	0	1	0
chr2	108767711	108767711	C	G	exonic	RANBP2	.	nonsynonymous SNV	RANBP2:NM_006267:exon20:c.C7172G:p.T2391S,	.	.	129	1390	3	0	0	3	0.00107797	.	.	448727	not_provided|Familial_acute_necrotizing_encephalopathy	MedGen:C3661900|MONDO:MONDO:0011953,MedGen:C2675556,OMIM:608033,Orphanet:88619	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.59	T	0.268	B	0.28	B	.	.	0.997	N	-0.335	N	0.9	T	-1.015	T	0.055	T	0.252	0.775	8.095	4.54	2.736	3.864	8.691	0.170	0.0122518310145	.	.	4.226e-05	0	0.0002	0	0	4.622e-05	0	0	0.0034962	91	26028	rs2433786	0.0040	0.0086	0.0041	0.0039	0.0046	0.0039	0.0039	0.0045	0.0045	0.0009	0.0024	0.0010	0.0001	0.0033	0.0022	0.0046	0.0042	0.0008	0.0051	0.0055	0.0056	0.0046	0.0088	0.0048	0.0047	0.0082	0.0080	0.0018	0	0.0040	0.0009	0.0004	0.0032	0	0.0088	0.0033	0.0012	0.499	0.07772	T	0.161	0.31326	T	0.268	0.31720	B	0.28	0.40294	B	.	.	.	.	0.997912	0.22840	N	0	0.06538	N	0.9	0.45248	T	-0.9	0.24244	N	0.239	0.26957	-1.0151	0.25304	T	0.055	0.23224	T	9	0.021814346	0.00530	T	0.012252	0.30654	T	0.170	0.43303	0.473	0.54859	0.604599270341	0.60143	0.09958770073658234	0.09889	0.363966548102	0.38019	0.43197453022	0.29478	T	0.114465	0.43230	T	-0.495801	0.00604	T	-0.481235	0.24315	T	0.0250890230857195	0.01285	T	0.0423958	0.00299	T	0.056074448	0.10984	0.061345	0.11832	0.056074448	0.10984	0.061345	0.11831	-4.949	0.36281	T	0.11030140206905947	0.09307	0.095	0.15115	B	.	.	3.388128	0.46898	22.4	0.96315430158120496	0.29397	0.89888	0.50651	D	AEFDBI	0.335022	0.43359	N	-0.192695834077233	0.33436	1.89704	0.0102674842455193	0.40192	2.394654	0.999997239845877	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.644132	0.48003	0	0.727631	0.95156	0	.	.	5.47	4.54	0.55220	3.217000	0.50886	3.334000	0.37651	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.3071:0.573:0.1199:0.0	8.691	0.33426	850	0.35610	Ran binding domain|Ran binding domain|Ran binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	611.98	38	chr2	108767711	.	C	G	611.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.65;DP=1001;ExcessHet=0.0000;FS=4.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=49.66;MQRankSum=-1.144e+01;QD=2.31;ReadPosRankSum=1.54;SOR=1.039	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1326	20	0	1	0
chr2	109419552	109419552	C	T	exonic	SH3RF3	.	nonsynonymous SNV	SH3RF3:NM_001099289:exon5:c.C1313T:p.S438L,	.	.	417	1101	4	0	0	4	0.00181324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.067	B	0.011	B	0.721	N	1.000	N	.	.	2.14	T	-1.016	T	0.102	T	0.143	0.725	7.857	2.53	0.383	0.629	7.844	0.039	0.0196122379425	0.0012	0.000599042	0.0029	0.0008	0.0010	0	0.0031	0.0039	0	0.0029	0.0012613	195	154602	rs183621731	0.0015	0.0015	0.0015	0.0015	0.0022	0.0015	0.0014	0.0020	0.0019	0.0002	0.0004	0	5.142e-05	0.0020	0.0005	0.0016	0.0013	0.0022	0.0010	0.0010	0.0010	0.0010	0.0019	0.0009	0.0008	0.0012	0.0011	0.0001	0	0.0012	0.0003	0	0.0018	0	0.0014	0.0009	0.0019	0.331	0.13088	T	0.19	0.28482	T	0.067	0.23653	B	0.011	0.15521	B	0.720984	0.06313	N	1.132760	0.999981	0.18198	N	.	.	.	2.14	0.19450	T	-2.13	0.48354	N	0.211	0.23506	-1.0161	0.24980	T	0.102	0.37819	T	9	0.004759282	0.00101	T	0.019612	0.42016	T	0.039	0.10176	.	.	0.0675242888579	0.06100	0.18954199825366758	0.18872	0.168584170926	0.19010	0.436419785023	0.30088	T	0.046706	0.27506	T	-0.601463	0.00143	T	-0.638526	0.09777	T	0.0106168482138741	0.00148	T	0.589041	0.21605	T	0.09286018	0.21795	0.0760286	0.16798	0.09286018	0.21795	0.0760286	0.16798	-5.137	0.38295	T	.	.	0.062	0.01367	B	.	.	1.006234	0.13851	10.40	0.98588149819994664	0.43336	0.06331	0.12329	N	AEFDGBI	0.051874	0.09206	N	-0.701984791015431	0.15964	0.8093264	-0.711070688220547	0.16685	0.8838186	0.999851479558789	0.44174	0.643511	0.44296	0	0.588015	0.36545	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	5.26	2.53	0.29594	0.725000	0.25638	0.384000	0.17813	0.524000	0.24156	0.277000	0.25113	0.000000	0.08366	0.324000	0.25064	0.0:0.7439:0.0:0.2561	7.844	0.28576	334	0.86273	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1441.98	33	chr2	109419552	.	C	T	1441.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.147e+00;DP=803;ExcessHet=0.0000;FS=1.417;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-1.360e-01;SOR=0.551	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1203	20	0	1	0
chr2	109501505	109501505	A	G	exonic	SH3RF3	.	nonsynonymous SNV	SH3RF3:NM_001099289:exon10:c.A2483G:p.Y828C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.993	D	0.000	U	1.000	D	.	.	1.55	T	-0.787	T	0.189	T	0.865	3.875	19.69	4.93	1.968	7.072	14.876	0.399	0.0448233817934	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1167363021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.006	0.70582	D	1.0	0.90584	D	0.993	0.81110	D	0.000003	0.62929	U	0.000000	1	0.81001	D	.	.	.	1.55	0.29866	T	-5.79	0.88065	D	0.794	0.79022	-0.7873	0.55886	T	0.189	0.54034	T	9	0.8073915	0.80062	D	0.044823	0.61680	D	0.399	0.71321	0.593	0.72247	0.331200485591	0.32731	0.9315179951753456	0.93130	0.846876937887	0.68356	0.766590237617	0.76913	T	0.106786	0.41843	T	0.196291	0.73545	D	0.0441823	0.73201	D	0.993552730830866	0.84398	D	0.928907	0.73860	D	0.48717907	0.66334	0.48156622	0.69979	0.48717907	0.66335	0.48156622	0.69980	-10.757	0.78308	D	.	.	0.502	0.64668	A	.	.	5.161098	0.86477	28.9	0.99713715671665271	0.81493	0.95923	0.66739	D	AEFBI	0.847090	0.76395	D	1.00408626535327	0.95868	14.05062	0.834261408991944	0.92065	11.21665	0.999502002093575	0.40062	0.706298	0.61202	0	0.588066	0.40923	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.93	4.93	0.64394	7.313000	0.78289	10.983000	0.84618	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.848000	0.40082	1.0:0.0:0.0:0.0	14.876	0.70131	462	0.78611	SH3 domain|SH3 domain|SH3RF1/SH3RF3, fourth SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1351.98	33	chr2	109501505	.	A	G	1351.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=799;ExcessHet=0.0000;FS=1.706;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=-2.560e-01;SOR=0.473	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1014	20	0	1	0
chr2	109544250	109544250	-	T	exonic	SEPTIN10	.	frameshift insertion	SEPTIN10:NM_001321498:exon12:c.1506dupA:p.L503Tfs*6,	.	.	2	221	2	1	0	4	0.00896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.00319489	0.0041	0.0011	0.0052	0.0004	0.0005	0.0059	0.0023	0.0016	0.0013063	34	26028	rs545969753	0.0044	0.0089	0.0045	0.0044	0.0235	0.0043	0.0043	0.0203	0.0190	0.0015	0.0053	0.0010	0.0001	0.0010	0.0235	0.0051	0.0043	0.0010	0.0035	0.0035	0.0036	0.0034	0.0072	0.0033	0.0032	0.0061	0.0057	0.0009	0	0.0072	0.0020	0	0.0008	0.0170	0.0051	0.0072	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1252.94	33	chr2	109544250	.	G	GT	1252.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.860e-01;DP=816;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=2.52;SOR=0.745	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1144	20	0	1	0
chr2	109574715	109574715	C	T	exonic	SEPTIN10	.	nonsynonymous SNV	SEPTIN10:NM_001321496:exon3:c.G67A:p.E23K	.	.	443	1070	9	0	0	9	0.00418799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	1.0	D	0.000	D	1.000	D	2.61	M	1.04	T	-0.476	T	0.237	T	0.874	4.715	26.2	4.92	2.721	7.171	18.655	0.452	.	0.0079	0.00319489	0.0074	0.0015	0.0034	0	0.0041	0.0115	0.0089	0.0024	0.0075872	1173	154602	rs56280142	0.0099	0.0100	0.0102	0.0096	0.0118	0.0098	0.0097	0.0116	0.0115	0.0021	0.0046	0.0033	0	0.0044	0.0016	0.0118	0.0098	0.0024	0.0070	0.0071	0.0076	0.0065	0.0121	0.0067	0.0066	0.0115	0.0112	0.0018	0.0033	0.0064	0.0023	0.0002	0.0033	0	0.0121	0.0076	0.0019	0.002	0.72154	D	0.037	0.51737	D	1.0	0.90584	D	1.0	0.97372	D	0.000003	0.62929	D	0.000000	1	0.81001	D	2.325	0.66631	M	1.04	0.40218	T	-3.73	0.70920	D	0.878	0.89242	-0.4762	0.69505	T	0.237	0.60379	T	10	0.0148302615	0.00311	T	.	.	.	0.452	0.75211	.	.	0.548654159409	0.54520	0.7608236543847126	0.76030	0.0798289916536	0.08984	0.713564693928	0.69109	T	0.100593	0.56684	T	-0.0886846	0.38293	T	0.112808	0.77760	D	0.0190241587016355	0.00611	T	0.994923	0.98273	D	0.7392324	0.80248	0.6930075	0.81931	0.7392324	0.80250	0.6930075	0.81932	-11.464	0.82606	D	.	.	0.764	0.81684	P	.;.;.;.;.	.;.;.;.;.	5.431848	0.90826	31	0.99936162702868503	0.99621	0.98299	0.81395	D	AEFBI	0.894792	0.83415	D	0.771259504642246	0.84280	8.244096	0.702637427663195	0.82578	7.802059	0.999999999986378	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.92	4.92	0.64147	7.568000	0.81546	7.597000	0.61435	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.945000	0.48827	0.0:1.0:0.0:0.0	18.655	0.91408	793	0.45818	Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;.;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain	SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Hypothalamus|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Minor_Salivary_Gland|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Thyroid	.	.	rs56280142	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	907.98	34	chr2	109574715	.	C	T	907.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.580e-01;DP=794;ExcessHet=0.0000;FS=1.583;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.18;ReadPosRankSum=-1.792e+00;SOR=0.503	GT:AD:DP:GQ:PL	0/1:68,43:111:99:922,0,1731	20	0	1	0
chr2	109615225	109615233	TCGGTGGCC	-	exonic	SOWAHC	.	nonframeshift deletion	SOWAHC:NM_023016:exon1:c.736_744del:p.V247_S249del,	.	.	418	1095	9	0	0	9	0.00409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0015	0	0	0	0.0014	0.0075	0.0005	0.0003458	9	26028	rs775437106	0.0005	0.0005	0.0005	0.0005	0.0153	0.0005	0.0004	0.0126	0.0116	0.0004	0.0030	0.0002	0	4.38e-05	0.0153	0.0004	0.0009	0.0006	0.0008	0.0008	0.0006	0.0009	0.0044	0.0007	0.0006	0.0036	0.0033	0.0001	0	0.0044	0	0	0	0.0034	0.0005	0.0052	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	627.94	36	chr2	109615224	.	ATCGGTGGCC	A	627.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.85;DP=852;ExcessHet=0.0000;FS=3.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.26;ReadPosRankSum=-1.256e+00;SOR=1.084	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,114,1167	20	0	1	0
chr2	109615372	109615372	G	C	exonic	SOWAHC	.	nonsynonymous SNV	SOWAHC:NM_023016:exon1:c.G883C:p.V295L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.0	B	0.003	B	0.391	N	0.999	N	0.665	N	-0.46	T	-1.020	T	0.124	T	0.109	0.345	5.873	1.25	0.124	-0.102	5.221	0.046	0.0321532723157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.457	0.08813	T	0.81	0.03945	T	0.0	0.02946	B	0.003	0.08700	B	0.390621	0.13260	N	0.673875	0.999496	0.21100	N	0.885	0.21608	L	-0.46	0.70014	T	-0.45	0.14782	N	0.052	0.02366	-1.0201	0.23682	T	0.124	0.42862	T	10	0.039845437	0.02505	T	0.032153	0.54058	D	0.046	0.12618	0.376	0.38994	0.117506650769	0.11410	0.2759558592074775	0.27508	.	.	0.389648318291	0.23620	T	0.004975	0.04396	T	-0.190219	0.22226	T	-0.511013	0.21210	T	0.0227400045841932	0.00993	T	0.576042	0.20701	T	0.057212465	0.11356	0.036430426	0.03089	0.057212465	0.11356	0.036430426	0.03089	-2.993	0.10106	T	.	.	0.100	0.17016	B	.	.	0.727846	0.10969	7.633	0.74783274851863524	0.10825	0.17298	0.19776	N	AEFDGBCI	0.184798	0.31212	N	-0.995158984346343	0.08706	0.4092657	-0.908716342160993	0.11888	0.6083993	0.999999998190183	0.74766	0.72623	0.87236	0	0.586065	0.33999	0	0.594344	0.31042	0	0.627883	0.49187	0	.	.	4.22	1.25	0.20475	-0.165000	0.09957	0.769000	0.21380	-0.227000	0.07798	0.001000	0.13787	0.913000	0.28170	0.374000	0.26200	0.162:0.0:0.3902:0.4478	5.221	0.14691	860	0.33753	Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1867.98	36	chr2	109615372	.	G	C	1867.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.790e-01;DP=932;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=1.21;SOR=0.677	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,114,1167	20	0	1	0
chr2	110118070	110118070	-	T	exonic	MALL	.	frameshift insertion	MALL:NM_001371559:exon1:c.39dupA:p.G14Rfs*16,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008068	21	26028	rs1367001100	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	0.0050	0.0034	0.0037	0.0064	0.0033	0.0032	0.0058	0.0055	0.0064	0	0.0028	0.0012	0.0014	0.0065	0.0037	0.0020	0.0035	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	286.01	1	chr2	110118070	.	C	CT	286.01	.	AC=1;AF=0.100;AN=10;BaseQRankSum=-6.660e-01;DP=103;ExcessHet=0.0000;FS=0.000;MLEAC=3;MLEAF=0.300;MQ=60.00;MQRankSum=0.00;QD=3.81;ReadPosRankSum=1.92;SOR=0.707	GT:AD:DP:GQ:PL	./.:1,0:1:0:0,0,0	4	0	1	16
chr2	110798668	110798668	T	C	exonic	ACOXL	.	nonsynonymous SNV	ACOXL:NM_001142807:exon6:c.T404C:p.M135T	.	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.01	B	0.012	B	0.000	D	0.631	N	-0.315	N	-3.57	D	-0.071	T	0.554	D	0.314	-0.065	3.682	5.33	2.019	2.562	7.926	0.337	.	.	0.00439297	0.0018	0.0001	0	0.0008	0	1.498e-05	0.0011	0.0125	0.0015977	247	154602	rs191965268	0.0007	0.0007	0.0004	0.0010	0.0106	0.0007	0.0007	0.0101	0.0098	2.987e-05	2.236e-05	0	0.0006	0	0.0005	2.968e-05	0.0013	0.0106	0.0005	0.0005	0.0004	0.0007	0.0137	0.0004	0.0004	0.0110	0.0101	0.0002	0	0.0002	0	0.0006	0	0	0	0.0005	0.0137	0.105	0.29823	T	0.503	0.25438	T	0.001	0.07471	B	0.002	0.06944	B	0.000015	0.62929	D	0.063315	0.631278	0.30696	N	0.12	0.08593	N	-3.57	0.94904	D	-2.0	0.46146	N	0.447	0.52829	-0.0706	0.80767	T	0.554	0.83719	D	10	0.0070810616	0.00161	T	.	.	.	0.337	0.65913	.	.	0.627026710118	0.62398	0.23259817033078548	0.23174	0.213799847793	0.23901	0.426493227482	0.28729	T	0.227874	0.59328	T	-0.262051	0.12660	T	-0.138806	0.60221	T	0.025490153095958	0.01338	T	0.512349	0.18957	T	0.122384645	0.28760	0.1125387	0.27154	0.122384645	0.28760	0.1125387	0.27153	-10.952	0.79394	D	.	.	0.252	0.48634	B	.;.;.	.;.;.	1.102112	0.14867	11.39	0.49921595505027799	0.04294	0.64767	0.32514	D	AEFDBI	0.114270	0.22514	N	-0.529829667362399	0.21121	1.118541	-0.394072723553601	0.25172	1.382767	0.999836907553119	0.43792	0.706548	0.73137	0	0.610034	0.51514	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	5.33	5.33	0.75683	1.916000	0.39617	-0.650000	0.08033	0.665000	0.62972	0.987000	0.36337	0.000000	0.08366	0.010000	0.09038	0.0:0.0917:0.0:0.9083	7.926	0.29034	864	0.32732	Acyl-CoA oxidase/dehydrogenase, central domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1167.98	33	chr2	110798668	.	T	C	1167.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.94;DP=797;ExcessHet=0.0000;FS=1.564;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.72;ReadPosRankSum=0.068;SOR=0.892	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1308	20	0	1	0
chr2	110963643	110963643	G	A	exonic	ACOXL	.	nonsynonymous SNV	ACOXL:NM_001371254:exon13:c.G1079A:p.R360Q,	.	.	442	1059	21	0	0	21	0.00981767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.956	P	0.727	P	0.000	N	1.000	D	.	.	-0.49	T	-0.524	T	0.353	T	0.212	3.510	17.94	3.71	0.701	0.936	10.345	0.015	0.0508755829006	0.0015	0.000599042	0.0040	0.0002	0.0009	0	0.0062	0.0043	0.0055	0.0085	0.0035252	545	154602	rs139505303	0.0026	0.0026	0.0023	0.0029	0.0084	0.0026	0.0025	0.0079	0.0077	0.0002	0.0010	0.0298	0.0001	0.0074	0.0061	0.0015	0.0042	0.0084	0.0027	0.0027	0.0027	0.0028	0.0082	0.0025	0.0024	0.0061	0.0054	0.0005	0	0.0010	0.0277	0.0002	0.0061	0	0.0025	0.0047	0.0082	0.006	0.61437	D	0.168	0.30631	T	0.956	0.54666	P	0.727	0.55167	P	0.000411	0.44736	N	0.090426	0.999637	0.47961	D	.	.	.	-0.49	0.70365	T	-2.67	0.57110	D	0.393	0.43417	-0.5241	0.67763	T	0.353	0.71658	T	9	0.01575613	0.00331	T	0.050876	0.64425	D	0.424	0.73226	.	.	0.711869458959	0.70935	.	.	.	.	.	.	.	0.319685	0.69095	T	-0.430201	0.01478	T	-0.38504	0.35133	T	0.0545219980913479	0.06277	T	0.733627	0.34942	T	0.14852482	0.33903	0.17239508	0.39491	0.14852482	0.33903	0.17239508	0.39490	-10.485	0.76761	D	.	.	0.152	0.33687	B	.	.	1.055996	0.14373	10.95	0.99910469386507339	0.98022	0.36896	0.25638	N	AEFBI	0.074308	0.14891	N	-0.0684011976285561	0.38785	2.276946	-0.105230951388771	0.35180	2.032186	0.682221993288881	0.22493	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.5	3.71	0.41733	0.981000	0.29124	0.069000	0.14235	-0.716000	0.03877	0.710000	0.28722	0.000000	0.08366	0.599000	0.31363	0.1615:0.0:0.8385:0.0	10.345	0.43086	699	0.57969	Acyl-CoA dehydrogenase/oxidase C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1260.98	40	chr2	110963643	.	G	A	1260.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.630e-01;DP=891;ExcessHet=0.0000;FS=10.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.06;ReadPosRankSum=0.669;SOR=0.299	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr2	110995957	110995957	C	T	exonic	ACOXL	.	nonsynonymous SNV	ACOXL:NM_001142807:exon14:c.C1234T:p.R412C	.	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	N	1.000	D	2.71	M	0.67	T	-0.580	T	0.228	T	0.742	3.051	16.18	2.9	0.699	0.700	9.093	0.244	.	0.0012	0.000798722	0.0027	0.0002	0.0002	0	0.0112	0.0033	0.0033	0.0020	0.0023544	364	154602	rs150734728	0.0018	0.0018	0.0018	0.0018	0.0025	0.0018	0.0018	0.0022	0.0021	0.0003	0.0003	0	0	0.0090	0.0009	0.0017	0.0017	0.0025	0.0016	0.0016	0.0012	0.0020	0.0017	0.0015	0.0014	0.0015	0.0014	0.0003	0	0	0	0	0.0095	0	0.0017	0.0010	0.0015	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000055	0.53742	N	0.071820	0.998836	0.45528	D	2.605	0.76211	M	0.67	0.52187	T	-6.71	0.93927	D	0.409	0.51851	-0.5804	0.65601	T	0.228	0.59258	T	10	0.008451611	0.00192	T	.	.	.	0.244	0.55061	.	.	0.629339664297	0.62631	0.5729268678473419	0.57220	0.289842988447	0.31388	0.292840003967	0.09338	T	0.234449	0.60148	T	-0.223019	0.17583	T	-0.0980549	0.63548	T	0.101442337186377	0.12515	T	0.871313	0.58047	D	0.69624573	0.77852	0.47725207	0.69715	0.69624573	0.77853	0.47725207	0.69715	-11.385	0.81727	D	.	.	0.363	0.57417	A	.;.;.;.	.;.;.;.	3.798243	0.54714	23.5	0.99885201148264413	0.96049	0.66090	0.32958	D	AEFBI	0.172519	0.29955	N	-0.0281759930243841	0.40581	2.412513	-0.0559509862927661	0.37233	2.177329	0.998464692936689	0.37014	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	4.71	2.9	0.32809	0.709000	0.25407	-0.271000	0.10347	0.599000	0.40250	0.995000	0.38783	0.000000	0.08366	0.964000	0.52637	0.0:0.8302:0.0:0.1698	9.093	0.35784	.	.	Acyl-CoA oxidase, C-terminal;.;Acyl-CoA oxidase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	982.98	38	chr2	110995957	.	C	T	982.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.543e+00;DP=873;ExcessHet=0.0000;FS=0.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.10;ReadPosRankSum=-1.050e-01;SOR=0.788	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1136	20	0	1	0
chr2	111130132	111130132	T	C	exonic	BCL2L11	.	nonsynonymous SNV	BCL2L11:NM_138625:exon3:c.T125C:p.V42A,	.	.	564	957	1	0	0	1	0.000522193	0.0001	0.058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00299521	0	0	0	0	.	0	0	0	0.0008452	22	26028	rs112161660	0.0002	0.0002	0.0003	0.0002	0.0081	0.0002	0.0002	0.0056	0.0048	0.0081	0.0006	0.0001	0	0	0.0026	2.457e-05	0.0006	6.462e-05	0.0032	0.0032	0.0033	0.0031	0.0112	0.0030	0.0029	0.0104	0.0100	0.0112	0	0.0009	0	0	0	0.0035	1.482e-05	0.0024	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	1296.33	37	chr2	111130132	.	T	C	1296.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.509;DP=860;ExcessHet=0.0000;FS=1.919;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=16.20;ReadPosRankSum=0.339;SOR=1.041	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,102,1530	19	0	1	1
chr2	111862567	111862567	A	C	exonic	ANAPC1	.	nonsynonymous SNV	ANAPC1:NM_022662:exon10:c.T1084G:p.S362A,	.	.	551	954	17	0	0	17	0.00883117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.841	P	0.746	P	0.080	U	0.999	D	1.87	L	.	.	-0.719	T	0.275	T	0.559	2.720	15.05	5.64	2.137	7.769	14.415	0.151	.	.	.	0.0047	0.0180	0.0025	0.0059	0.0003	0.0014	0.0013	0.0139	3.84e-05	1	26028	rs753622705	0.0004	0.0044	0.0003	0.0005	0.0047	0.0004	0.0004	0.0041	0.0038	0.0047	0.0015	0.0003	0.0010	9.409e-05	0.0012	0.0001	0.0004	0.0027	6.61e-05	0.0004	3.878e-05	9.47e-05	0.0002	3.536e-05	2.631e-05	9.701e-05	7.061e-05	0.0002	0	0	0	0	0	0	1.472e-05	0	0.0002	0.17	0.22833	T	0.404	0.14818	T	0.841	0.46518	P	0.746	0.55899	P	0.079948	0.20953	U	0.221037	0.999023	0.45899	D	2.215	0.62545	M	.	.	.	-0.97	0.25770	N	0.542	0.56919	-0.7187	0.59527	T	0.275	0.64681	T	9	0.009175271	0.00207	T	.	.	.	0.151	0.39764	.	.	0.300784259202	0.29686	0.5780039866043089	0.57729	.	.	0.76539003849	0.76733	T	0.006937	0.06364	T	0.0593238	0.59528	T	-0.152562	0.59015	T	0.0335864095914406	0.02568	T	0.675932	0.28448	T	0.07947044	0.18158	0.08809113	0.20519	0.07947044	0.18158	0.08809113	0.20518	-5.076	0.37653	T	.	.	0.082	0.08560	B	.	.	3.524964	0.49431	22.8	0.99124367532288282	0.53089	0.97830	0.77447	D	AEFBI	0.838031	0.75559	D	0.557662716379584	0.70549	5.517996	0.601730172591018	0.75064	6.245122	0.972534829490776	0.29379	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	7.397000	0.79162	11.183000	0.88385	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.415	0.66717	779	0.47767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	239.11	34	chr2	111862567	.	A	C	239.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.262;DP=857;ExcessHet=0.1072;FS=9.457;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=50.32;MQRankSum=-4.423e+00;QD=1.29;ReadPosRankSum=-1.646e+00;SOR=1.516	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	19	0	2	0
chr2	112165024	112165024	C	G	exonic	FBLN7	.	nonsynonymous SNV	FBLN7:NM_001128165:exon3:c.C259G:p.P87A	.	.	424	1091	7	0	0	7	0.00319781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	1.0	D	1.0	D	0.000	D	1.000	D	3.145	M	1.75	T	-0.761	T	0.148	T	0.754	4.322	22.7	5.6	2.649	6.545	18.392	0.293	0.0291919625702	0.0034	0.00119808	0.0027	0.0010	0.0024	0	0.0017	0.0040	0	0.0003	0.0029236	452	154602	rs35747528	0.0040	0.0040	0.0042	0.0039	0.0048	0.0039	0.0039	0.0047	0.0046	0.0005	0.0020	0.0066	0	0.0013	0.0007	0.0048	0.0032	0.0002	0.0029	0.0029	0.0031	0.0026	0.0046	0.0026	0.0026	0.0042	0.0040	0.0009	0	0.0025	0.0104	0	0.0007	0	0.0046	0.0028	0.0002	0.017	0.63226	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.58	0.93551	H	1.75	0.26152	T	-3.94	0.80767	D	0.804	0.79986	-0.7613	0.57334	T	0.148	0.47469	T	10	0.029582739	0.01084	T	0.029192	0.51742	D	0.293	0.61272	.	.	0.595645824669	0.59243	0.7020894349918074	0.70149	0.970211370179	0.73337	0.503804981709	0.39357	T	0.162206	0.50677	T	-0.232382	0.16335	T	-0.104243	0.63066	T	0.0444365512128051	0.04499	T	0.905309	0.66640	D	0.7587532	0.81379	0.44956213	0.67962	0.7587532	0.81381	0.44956213	0.67962	-14.444	0.94410	D	.	.	0.276	0.67861	B	.;.;.;.	.;.;.;.	3.422025	0.47522	22.5	0.99529157896840115	0.69777	0.99208	0.92825	D	AEFDBI	0.797793	0.72453	D	0.623987116059207	0.74694	6.176488	0.546391348787505	0.71146	5.610708	0.999999998959456	0.74766	0.516011	0.20929	0	0.547309	0.14657	0	0.577349	0.28860	0	0.567892	0.33627	0	.	.	5.6	5.6	0.84997	6.664000	0.74280	7.507000	0.59567	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.410000	0.27006	0.0:1.0:0.0:0.0	18.392	0.90430	952	0.10565	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	4280.08	35	chr2	112165024	.	C	G	4280.08	.	AC=2;AF=0.048;AN=42;DP=836;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.32;SOR=0.967	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1345	20	1	0	0
chr2	112165099	112165099	C	T	exonic	FBLN7	.	nonsynonymous SNV	FBLN7:NM_001128165:exon3:c.C334T:p.R112W	.	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.169	B	0.027	B	0.200	N	1.000	D	1.9	L	-0.23	T	-0.664	T	0.252	T	0.291	3.194	16.69	4.48	1.269	2.426	12.851	0.176	0.0175624347794	0.0002	0.000199681	7.414e-05	0.0006	0	0	0	4.496e-05	0	0	9.7e-05	15	154602	rs147579184	0.0001	0.0001	0.0001	0.0001	0.0006	9.266e-05	8.731e-05	0.0004	0.0003	0.0006	2.236e-05	0	0	0	0	0.0001	0.0001	3.478e-05	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0004	0.0003	0.0005	0	6.533e-05	0	0	0	0	5.88e-05	0.0005	0	0.049	0.63226	D	0.023	0.67890	D	0.013	0.28678	B	0.016	0.21085	B	0.199730	0.16631	N	0.636926	0.999586	0.54805	D	2.125	0.59049	M	-0.23	0.66652	T	-2.53	0.70432	D	0.382	0.46462	-0.6639	0.62104	T	0.252	0.62142	T	10	0.12121108	0.22973	T	0.017562	0.39307	T	0.176	0.44373	.	.	0.732716374277	0.73033	0.5106782391462972	0.50989	0.300726370093	0.32425	0.230084002018	0.01974	T	0.270826	0.64312	T	-0.303883	0.08298	T	-0.331552	0.41297	T	0.0620186753757791	0.07484	T	0.246775	0.06141	T	0.3625952	0.58033	0.309802	0.56993	0.3625952	0.58034	0.309802	0.56992	-7.951	0.60845	D	.	.	0.078	0.38924	B	.;.;.;.	.;.;.;.	3.785602	0.54452	23.5	0.99788915145743207	0.87484	0.89530	0.50053	D	AEFDGBI	0.731696	0.67869	D	-0.0301525771702124	0.40493	2.405706	0.100935682078668	0.44596	2.738353	0.999980375925758	0.51787	0.516011	0.20929	0	0.547309	0.14657	0	0.577349	0.28860	0	0.567892	0.33627	0	.	.	5.36	4.48	0.53973	2.511000	0.45137	2.081000	0.30495	-0.173000	0.11020	1.000000	0.71638	0.970000	0.29701	0.995000	0.73285	0.0:0.9196:0.0:0.0804	12.851	0.57244	952	0.10565	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2576.98	35	chr2	112165099	.	C	T	2576.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=885;ExcessHet=0.0000;FS=1.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=0.755;SOR=0.869	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1345	20	0	1	0
chr2	112370213	112370213	C	T	splicing	RGPD5;RGPD8	NM_005054:exon23:c.5264-1G>A;NM_001164463:exon23:c.5264-1G>A	.	.	.	.	708	812	2	0	0	2	0.00123001	1.0000	0.758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.076	9.395	0.719	0.680	3.806	7.291	.	.	.	.	0.0002	0	0.0003	0	0	3.14e-05	0	0.0009	3.84e-05	1	26028	rs770937856	6.459e-05	7.139e-05	2.998e-05	9.956e-05	0.0008	5.344e-05	4.946e-05	0.0007	0.0006	0	0.0001	0	0	0	0.0006	1.596e-05	0	0.0008	2.895e-05	3.995e-05	0	5.99e-05	0.0005	9.76e-06	5.56e-06	8.516e-05	3.547e-05	0	0	7.246e-05	0	0	0	0	1.578e-05	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.397932	0.02389	T	-0.440628	0.28738	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.984353	0.82587	27.8	0.87471103616885826	0.17251	0.70677	0.34690	D	AEFBCI	.	.	.	0.430173723351073	0.63088	4.53603	0.0728912594284478	0.43192	2.626008	3.7559017742205E-5	0.03775	0.164513	0.03853	0	0.195528	0.04277	0	0.063197	0.01477	0	0.093733	0.02929	0	0.618098	0.41109	0.719	0.719	0.17362	4.304000	0.58899	7.228000	0.57865	0.284000	0.18682	1.000000	0.71638	1.000000	0.68203	0.058000	0.15825	0.0:1.0:0.0:0.0	7.291	0.25540	929	0.16858	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	660.34	38	chr2	112370213	.	C	T	660.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-5.950e-01;DP=690;ExcessHet=0.0000;FS=2.329;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=44.06;MQRankSum=-2.303e+00;QD=12.23;ReadPosRankSum=0.945;SOR=0.407	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1312	19	0	1	1
chr2	112391058	112391058	C	T	exonic	RGPD5;RGPD8	.	nonsynonymous SNV	RGPD8:NM_001164463:exon19:c.G2614A:p.G872S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.978	D	0.62	P	.	.	1.000	D	2.045	M	1.29	T	-0.963	T	0.119	T	0.287	2.702	14.99	2.33	1.309	7.093	10.392	0.202	0.00666933285046	.	.	3.472e-05	0	8.856e-05	0	0	3.171e-05	0.0012	0	3.84e-05	1	26028	rs748654524	1.808e-05	3.215e-05	1.108e-05	2.516e-05	2.366e-05	1.258e-05	1.069e-05	1.015e-05	8.37e-06	0	2.286e-05	0	0	0	0	1.624e-05	8.371e-05	2.366e-05	6.876e-06	6.638e-06	1.337e-05	0	1.512e-05	0	0	.	.	0	0	0	0	0	0	0	1.512e-05	0	0	0.007	0.91255	D	0.077	0.42436	T	0.978	0.58756	D	0.62	0.51382	P	.	.	.	.	0.699366	0.33405	D	0.975	0.24501	L	1.29	0.35775	T	-3.89	0.72820	D	0.424	0.57775	-0.9626	0.38684	T	0.119	0.41778	T	9	0.24993882	0.42313	T	0.006669	0.17614	T	0.202	0.48754	0.232	0.16005	0.0611884634855	0.05136	0.10548426489928843	0.10478	.	.	0.885774075985	0.94724	D	0.079986	0.36257	T	-0.0899978	0.38077	T	-0.367052	0.37232	T	0.303536191152721	0.25150	T	0.860614	0.57812	D	0.46284014	0.64847	0.40005717	0.64552	0.46284014	0.64848	0.40005717	0.64552	-3.013	0.10321	T	.	.	0.144	0.46654	B	.;.	.;.	4.095984	0.61034	24.3	0.99667297120434595	0.78330	0.93605	0.58675	D	AEFI	0.727120	0.67556	D	0.218173865589614	0.52082	3.384563	0.11236604995511	0.45179	2.785786	0.0199886404206837	0.13215	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	2.33	2.33	0.27981	7.234000	0.77597	5.912000	0.51036	0.282000	0.18639	1.000000	0.71638	1.000000	0.68203	0.876000	0.41813	0.0:1.0:0.0:0.0	10.392	0.43358	916	0.20744	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1151.98	33	chr2	112391058	.	C	T	1151.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.850e-01;DP=889;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.54;MQRankSum=-2.416e+00;QD=5.73;ReadPosRankSum=1.17;SOR=0.651	GT:AD:DP:GQ:PL	0/1:135,66:201:99:1166,0,3050	20	0	1	0
chr2	112738876	112738876	G	A	exonic	CKAP2L	.	nonsynonymous SNV	CKAP2L:NM_001304361:exon9:c.C1690T:p.R564C	Filippi syndrome, Autosomal recessive	.	439	1042	40	1	0	42	0.0197554	.	.	696976	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.966	D	0.378	B	0.002	N	1.000	D	2.24	M	1.34	T	-0.976	T	0.075	T	0.376	2.632	14.76	4.57	1.626	2.301	8.592	0.199	.	0.0082	0.00479233	0.0097	0.0021	0.0058	0	0.0057	0.0112	0.0077	0.0182	0.0093142	1440	154602	rs76036957	0.0098	0.0098	0.0093	0.0102	0.0181	0.0096	0.0096	0.0174	0.0171	0.0013	0.0068	0.0059	2.519e-05	0.0057	0.0099	0.0102	0.0086	0.0181	0.0078	0.0078	0.0079	0.0077	0.0141	0.0074	0.0073	0.0114	0.0104	0.0021	0.0493	0.0090	0.0095	0.0002	0.0038	0.0102	0.0112	0.0071	0.0141	0.0	0.91255	D	0.031	0.53788	D	0.966	0.56202	D	0.378	0.43788	B	0.001663	0.38326	N	0.247068	0.999705	0.81001	D	2.445	0.70938	M	1.34	0.34841	T	-4.35	0.76900	D	0.235	0.26475	-0.9756	0.35993	T	0.075	0.30086	T	10	0.006101191	0.00137	T	.	.	.	0.199	0.48268	.	.	0.220303561663	0.21668	0.6024839971628364	0.60179	0.33601122807	0.35606	0.41950160265	0.27768	T	0.055558	0.30039	T	-0.387086	0.02809	T	-0.314518	0.43171	T	0.0509182101076658	0.05661	T	0.851715	0.53598	D	0.38217694	0.59474	0.25210404	0.50833	0.3203046	0.54665	0.25210404	0.50832	-7.852	0.60057	D	0.6133946603070386	0.68116	0.191	0.40921	B	.	.	3.119182	0.42106	21.5	0.99421121823061132	0.63790	0.77125	0.37887	D	AEFBI	0.258980	0.37742	N	0.328897022263505	0.57636	3.931799	0.364932610761628	0.59413	4.119	0.992322588929736	0.32799	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.45	4.57	0.55860	2.049000	0.40912	4.964000	0.46359	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0827:0.1531:0.7642:0.0	8.592	0.32856	614	0.66605	Cytoskeleton-associated protein 2, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1769.98	33	chr2	112738876	.	G	A	1769.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.25;DP=832;ExcessHet=0.0000;FS=3.244;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=-3.070e-01;SOR=1.030	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr2	113075332	113075332	C	T	exonic	IL1F10	.	nonsynonymous SNV	IL1F10:NM_032556:exon4:c.C427T:p.R143C	.	.	425	1090	7	0	0	7	0.00320073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.007	B	0.003	B	0.651	N	1.000	N	1.1	L	2.32	T	-0.995	T	0.028	T	0.191	0.015	4.093	-0.547	-0.024	-0.240	4.898	0.019	0.00818440657801	7.7e-05	0.00179712	0.0006	0	0.0003	0.0001	0	9.184e-05	0	0.0042	0.000511	79	154602	rs140273950	0.0003	0.0003	0.0002	0.0004	0.0039	0.0003	0.0003	0.0036	0.0034	3.037e-05	6.963e-05	0	2.558e-05	0	0.0009	4.744e-05	0.0004	0.0039	0.0002	0.0002	0.0002	0.0002	0.0056	0.0002	0.0001	0.0039	0.0034	0	0	0	0	0	0	0	7.349e-05	0	0.0056	0.071	0.35165	T	0.18	0.29442	T	0.001	0.07471	B	0.002	0.06944	B	0.650705	0.10516	N	0.848252	0.999992	0.08975	N	1.83	0.48079	L	2.32	0.16640	T	-0.05	0.07736	N	0.13	0.12484	-0.9951	0.31272	T	0.028	0.11971	T	10	0.0076808333	0.00175	T	0.008184	0.21674	T	0.019	0.03383	.	.	0.15556083564	0.15200	0.28141862201355494	0.28054	0.0407061659349	0.04366	0.228285059333	0.01843	T	0.008417	0.07732	T	-0.622601	0.00106	T	-0.668573	0.07700	T	0.0267117909191966	0.01504	T	0.719828	0.33277	T	0.14368689	0.33013	0.07986706	0.18017	0.14368689	0.33013	0.07986706	0.18016	-4.686	0.33234	T	.	.	0.086	0.10835	B	.;.	.;.	1.194654	0.15865	12.15	0.78493481488108896	0.12325	0.03389	0.08498	N	AEFDBI	0.067130	0.13181	N	-1.09920473490232	0.06659	0.3071341	-1.13524584741847	0.07036	0.3407724	0.755611638962667	0.23429	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.87	-0.547	0.11244	-0.517000	0.06360	-2.698000	0.03455	-0.216000	0.08207	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.1377:0.5296:0.0:0.3327	4.898	0.13116	363	0.84772	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1995.98	34	chr2	113075332	.	C	T	1995.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.27;DP=864;ExcessHet=0.0000;FS=1.297;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.58;ReadPosRankSum=1.93;SOR=0.568	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1171	20	0	1	0
chr2	113132707	113132707	G	A	exonic	IL1RN	.	nonsynonymous SNV	IL1RN:NM_173842:exon4:c.G370A:p.A124T	Interleukin 1 receptor antagonist deficiency, Autosomal recessive	.	0	1505	17	0	0	17	0.00561612	.	.	448759	IL1RN-related_disorder|Sterile_multifocal_osteomyelitis_with_periostitis_and_pustulosis|Autoinflammatory_syndrome|not_provided	.|MONDO:MONDO:0013021,MedGen:C2748507,OMIM:612852,Orphanet:210115|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.4	T	0.019	B	0.019	B	0.009	N	1.000	N	-1.23	N	3.02	T	-0.937	T	0.004	T	0.108	-0.636	1.189	-0.802	-0.748	-0.271	6.543	0.029	.	0.0009	0.00479233	0.0030	0.0011	0.0007	0.0143	0	0.0009	0.0033	0.0094	0.0026326	407	154602	rs45507693	0.0014	0.0014	0.0012	0.0016	0.0123	0.0013	0.0013	0.0100	0.0095	0.0009	0.0007	0.0047	0.0107	0	0.0123	0.0004	0.0030	0.0081	0.0013	0.0013	0.0011	0.0014	0.0106	0.0011	0.0011	0.0084	0.0076	0.0008	0	0.0010	0.0052	0.0106	0	0.0068	0.0005	0.0028	0.0066	1.0	0.00964	T	1.0	0.01155	T	0.002	0.15914	B	0.006	0.18783	B	0.008667	0.30726	N	0.390178	0.999912	0.19599	N	-1.63	0.00401	N	3.02	0.08986	T	2.52	0.00229	N	0.05	0.02179	-0.9366	0.43149	T	0.004	0.01400	T	10	0.008407414	0.00191	T	.	.	.	0.029	0.06676	.	.	0.242825505644	0.23883	0.5592029854060361	0.55847	0.0529077588486	0.05834	0.289524585009	0.08853	T	0.125073	0.45053	T	-0.703256	0.00035	T	-0.769981	0.02768	T	1.88654503290309e-05	0.00000	T	0.157184	0.01392	T	0.075816624	0.17107	0.05437313	0.09340	0.113247275	0.26747	0.058866408	0.10952	-0.639	0.01064	T	0.039757481599584636	0.00332	0.061	0.02733	B	.;.;.;.;.	.;.;.;.;.	-0.273803	0.02735	0.363	0.59931702614615556	0.06341	0.01521	0.05017	N	AEFBI	0.066869	0.13117	N	-1.64792111267281	0.01044	0.04527927	-1.48801726331597	0.02442	0.1123296	0.991469403513662	0.32498	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.8	-0.802	0.10340	-0.103000	0.10909	-0.086000	0.12117	-1.234000	0.01323	0.303000	0.25352	0.000000	0.08366	0.041000	0.14368	0.5105:0.0:0.3735:0.116	6.543	0.21588	591	0.68823	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	1608.98	42	chr2	113132707	.	G	A	1608.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=823;ExcessHet=0.0000;FS=1.463;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=-1.673e+00;SOR=0.847	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr2	113182638	113182638	A	T	exonic	PSD4	.	nonsynonymous SNV	PSD4:NM_012455:exon2:c.A182T:p.Q61L,	.	.	427	1094	1	0	0	1	0.00045683	.	.	2760869	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.299	B	0.023	B	.	.	1.000	N	0	N	2.94	T	-0.965	T	0.011	T	0.267	1.108	9.519	-1.29	-0.104	0.124	4.777	0.006	0.00197123809771	.	0.00159744	0.0012	0	8.646e-05	0	0	0	0	0.0091	0.0010608	164	154602	rs567818540	0.0006	0.0006	0.0003	0.0008	0.0091	0.0005	0.0005	0.0086	0.0083	0	0	0	2.523e-05	0	0.0003	1.799e-06	0.0008	0.0091	0.0003	0.0003	0.0002	0.0004	0.0089	0.0002	0.0002	0.0068	0.0061	0	0	6.536e-05	0	0	0	0	0	0	0.0089	0.063	0.36709	T	0.331	0.18505	T	0.198	0.32525	B	0.01	0.19966	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.94	0.09915	T	-0.24	0.10833	N	0.157	0.22614	-0.9654	0.38132	T	0.011	0.04274	T	9	0.0032184124	0.00055	T	0.001971	0.03535	T	0.006	0.00375	.	.	0.161926535498	0.15789	0.09463442489254394	0.09395	0.107375063509	0.12116	0.269537389278	0.06081	T	0.009704	0.08820	T	-0.589258	0.00169	T	-0.612949	0.11746	T	0.014441964044566	0.00292	T	0.287271	0.05164	T	0.1384202	0.32014	0.04487806	0.05914	0.1384202	0.32014	0.04487806	0.05914	-7.462	0.57343	T	.	.	0.121	0.41495	B	.;.	.;.	0.529952	0.08986	5.768	0.8285605611663388	0.14411	0.04225	0.09743	N	AEFBCI	0.030614	0.03115	N	-1.1933520115078	0.05100	0.231709	-1.29272063677462	0.04528	0.2137987	0.999675296146324	0.41644	0.722319	0.85440	0	0.698795	0.70079	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	1.47	-1.29	0.08805	0.045000	0.13898	-0.720000	0.07709	0.582000	0.30178	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.5858:0.4142:0.0:0.0	4.777	0.12557	607	0.67291	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1270.98	34	chr2	113182638	.	A	T	1270.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.620e-01;DP=846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=-3.350e-01;SOR=0.628	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1258	20	0	1	0
chr2	113184994	113184994	G	A	exonic	PSD4	.	nonsynonymous SNV	PSD4:NM_012455:exon3:c.G1094A:p.C365Y,	.	.	427	1075	20	0	0	20	0.00921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.218	B	0.08	B	0.105	N	1.000	N	0.805	L	2.94	T	-1.007	T	0.018	T	0.293	1.125	9.587	-1.49	-0.095	-0.613	2.346	0.036	0.00376722550295	0.0009	0.00119808	0.0007	0.0030	0.0003	0	0	0.0003	0	0.0020	0.0006468	100	154602	rs45626940	0.0004	0.0004	0.0003	0.0005	0.0052	0.0004	0.0004	0.0037	0.0033	0.0027	0.0002	0	0.0001	9.36e-05	0.0052	0.0002	0.0008	0.0022	0.0008	0.0008	0.0008	0.0009	0.0023	0.0007	0.0007	0.0019	0.0018	0.0023	0	0.0005	0	0	0	0	0.0002	0	0.0014	0.008	0.58626	D	0.181	0.29346	T	0.139	0.30213	B	0.037	0.28873	B	0.105345	0.02587	N	1.741990	1	0.08975	N	1.15	0.29295	L	2.94	0.09728	T	-0.81	0.28906	N	0.268	0.39962	-1.0069	0.27881	T	0.018	0.07706	T	10	0.0063016415	0.00142	T	0.003767	0.08775	T	0.036	0.09122	.	.	0.0675242888579	0.06100	0.1557347421138312	0.15494	0.182166291854	0.20479	0.403516948223	0.25557	T	0.015507	0.12992	T	-0.569018	0.00224	T	-0.594123	0.13311	T	0.00368205978972027	0.00039	T	0.39686	0.10010	T	0.13225634	0.30801	0.08421991	0.19358	0.13225634	0.30801	0.08421991	0.19358	-5.609	0.42874	T	.	.	0.088	0.22171	B	.;.	.;.	0.674532	0.10428	7.151	0.74280089209675548	0.10637	0.07548	0.13561	N	AEFDBHCI	0.047426	0.07985	N	-1.01706949738135	0.08249	0.3861312	-1.09230761448134	0.07851	0.3835654	0.9999990709045	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	4.38	-1.49	0.08259	-0.448000	0.06893	0.316000	0.17134	-0.166000	0.11466	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0957:0.2987:0.3013:0.3044	2.346	0.04010	607	0.67291	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1024.98	40	chr2	113184994	.	G	A	1024.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.548e+00;DP=801;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.40;ReadPosRankSum=-1.294e+00;SOR=0.710	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1374	20	0	1	0
chr2	113185994	113185994	C	G	exonic	PSD4	.	nonsynonymous SNV	PSD4:NM_012455:exon5:c.C1367G:p.P456R,	.	.	409	1112	1	0	0	1	0.000449438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.009	B	0.016	B	0.519	N	1.000	N	0.345	N	2.87	T	-0.953	T	0.012	T	0.117	0.365	5.979	-0.978	-0.413	-0.491	4.860	0.007	.	0.0034	0.00259585	0.0011	0.0114	0.0009	0	0	1.506e-05	0	0.0002	0.0009896	153	154602	rs45598832	0.0003	0.0003	0.0004	0.0003	0.0114	0.0003	0.0003	0.0104	0.0100	0.0114	0.0005	0	0	0	0.0016	1.349e-05	0.0008	9.275e-05	0.0029	0.0029	0.0030	0.0028	0.0099	0.0027	0.0026	0.0091	0.0088	0.0099	0	0.0010	0	0	0	0	2.939e-05	0.0043	0	0.056	0.38863	T	0.231	0.43721	T	0.005	0.15093	B	0.007	0.17743	B	0.518645	0.05189	N	1.254850	1	0.08975	N	0.625	0.15840	N	2.87	0.10674	T	-2.86	0.61580	D	0.064	0.13341	-0.9533	0.40398	T	0.012	0.04605	T	10	0.003740698	0.00070	T	.	.	.	0.007	0.00512	.	.	0.082315109003	0.07666	0.15572927501314926	0.15493	0.101288994905	0.11461	0.396433055401	0.24573	T	0.02095	0.16402	T	-0.657032	0.00066	T	-0.705527	0.05529	T	0.00555903308848274	0.00061	T	0.492951	0.15215	T	0.10697757	0.25296	0.08920789	0.20848	0.10697757	0.25296	0.08920789	0.20847	-4.871	0.35407	T	.	.	0.078	0.14015	B	.;.	.;.	0.948055	0.13241	9.741	0.92345533512221134	0.21745	0.05870	0.11817	N	AEFDBCI	0.068597	0.13540	N	-1.23546768053028	0.04495	0.2029871	-1.24598956860662	0.05190	0.2467265	0.999949088397145	0.47345	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.0	-0.978	0.09754	-0.352000	0.07750	-0.802000	0.07370	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.484000	0.28656	0.0:0.4033:0.1535:0.4433	4.860	0.12938	607	0.67291	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1178.98	43	chr2	113185994	.	C	G	1178.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.247e+00;DP=881;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=2.27;SOR=0.642	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr2	113241676	113241676	C	T	exonic	PAX8	.	nonsynonymous SNV	PAX8:NM_003466:exon7:c.G652A:p.G218R	Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.997	D	0.743	P	0.033	N	1.000	D	1.15	L	-3.83	D	-0.923	T	0.150	T	0.239	1.863	12.19	4.69	2.334	2.990	9.176	0.201	0.0654499464327	7.8e-05	.	1.657e-05	0.0001	0	0	0	1.5e-05	0	0	1.29e-05	2	154602	rs369558233	8.893e-06	8.893e-06	1.225e-05	5.5e-06	0.0001	4.96e-06	3.82e-06	3.982e-05	2.373e-05	0.0001	6.708e-05	0	0	0	0	4.496e-06	1.656e-05	0	1.315e-05	1.313e-05	2.57e-05	0	2.414e-05	2.18e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	1.47e-05	0	0	0.522	0.10345	T	0.689	0.21011	T	0.06	0.66517	B	0.009	0.48708	B	0.032908	0.24966	N	0.420101	0.955071	0.81001	D	0.895	0.22405	L	-4.49	0.97672	D	-1.37	0.36385	N	0.34	0.41162	-0.9231	0.45126	T	0.150	0.47681	T	10	0.23265111	0.40265	T	0.06545	0.69583	D	0.330	0.65226	0.37	0.38013	0.73992180655	0.73759	0.4473266745240517	0.44650	0.062343724922	0.06938	0.679067134857	0.64134	T	0.38774	0.74858	T	-0.0425015	0.45577	T	-0.117299	0.62023	T	0.269909024238586	0.23743	T	0.936306	0.88706	D	0.09748347	0.22980	0.116722174	0.28178	0.09748347	0.22980	0.116722174	0.28177	-6.276	0.48532	T	0.22496596021780824	0.30388	0.273	0.55494	B	.;.;.;.;.;.	.;.;.;.;.;.	4.142222	0.62066	24.4	0.97637970216407	0.35063	0.38494	0.26001	N	AEFDBCIJ	0.458562	0.50954	N	0.17929247307147	0.50207	3.21282	0.23619589043219	0.51866	3.365725	0.999999995414896	0.74766	0.580535	0.33130	0	0.550933	0.16991	0	0.576033	0.28219	0	0.635259	0.50027	0	.	.	4.69	4.69	0.58546	2.793000	0.47537	7.453000	0.58980	0.599000	0.40250	0.640000	0.28085	1.000000	0.68203	0.647000	0.32611	0.0:0.8988:0.0:0.1012	9.176	0.36273	623	0.65786	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1854.98	34	chr2	113241676	.	C	T	1854.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.04;DP=872;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=-7.400e-01;SOR=0.681	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1483	20	0	1	0
chr2	113499597	113499597	C	T	exonic	FOXD4L1	.	nonsynonymous SNV	FOXD4L1:NM_012184:exon1:c.C341T:p.A114V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.005	U	1.000	D	2.555	M	-3.72	D	0.988	D	0.908	D	0.579	4.276	22.3	2.85	1.602	7.190	11.486	0.831	0.154345476065	.	0.00139776	0.0010	0	0	0	0	0	0	0.0075	0.0008473	131	154602	rs374556717	0.0004	0.0004	0.0003	0.0006	0.0073	0.0004	0.0004	0.0068	0.0066	2.987e-05	0	0	5.038e-05	0	0	3.597e-06	0.0003	0.0073	0.0002	0.0002	0.0001	0.0003	0.0059	0.0002	0.0001	0.0042	0.0036	0	0	6.736e-05	0	0.0002	0	0	4.448e-05	0	0.0059	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.004718	0.33466	U	0.000000	0.999999	0.58761	D	2.585	0.75554	M	-3.72	0.95422	D	-3.99	0.73893	D	0.608	0.62526	0.988	0.96983	D	0.908	0.96936	D	10	0.019045174	0.00421	T	0.154345	0.83547	D	0.831	0.94653	0.743	0.87486	0.969647847974	0.96932	0.2052441448797655	0.20441	.	.	0.95001065731	0.99751	D	0.385274	0.74670	T	0.121913	0.66564	D	0.11319	0.77784	D	0.134296033802504	0.15773	T	0.862614	0.55818	D	0.88414216	0.90011	0.8746658	0.93190	0.88414216	0.90012	0.8746658	0.93190	-16.395	0.98295	D	.	.	0.856	0.80074	P	.	.	5.514659	0.91719	32	0.99923344894841704	0.98917	0.96398	0.68943	D	AEFBHI	0.732283	0.67909	D	0.551668674763391	0.70185	5.464375	0.427550672238514	0.63288	4.559529	0.662182496059687	0.22283	0.59774	0.34471	0	0.547309	0.14657	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	2.85	2.85	0.32333	7.336000	0.78493	7.354000	0.58310	0.284000	0.18682	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:1.0:0.0:0.0	11.486	0.49604	546	0.72524	Fork head domain|Fork head domain|Fork head domain conserved site1|Fork head domain|Fork head domain|Fork head domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2460.98	34	chr2	113499597	.	C	T	2460.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.400e-01;DP=1590;ExcessHet=0.0000;FS=1.608;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.57;MQRankSum=-1.666e+00;QD=10.30;ReadPosRankSum=-2.228e+00;SOR=0.826	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1106	20	0	1	0
chr2	113499665	113499665	A	T	exonic	FOXD4L1	.	nonsynonymous SNV	FOXD4L1:NM_012184:exon1:c.A409T:p.I137F,	.	.	44	1470	8	0	0	8	0.0027137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.004	U	1.000	D	2.565	M	-4.32	D	0.850	D	0.904	D	0.551	3.932	20.1	2.57	1.190	8.575	8.653	0.803	.	0.0017	.	0.0019	0.0077	0.0006	0.0138	0	0.0002	0.0011	0.0006	3.84e-05	1	26028	rs146009388	0.0002	0.0018	0.0002	0.0002	0.0052	0.0002	0.0002	0.0045	0.0043	0.0052	0.0003	7.673e-05	0.0012	0	0.0007	3.33e-05	0.0007	0.0003	0.0001	0.0007	0.0001	0.0002	0.0006	9.465e-05	7.887e-05	0.0002	0.0002	0.0004	0	0	0	0.0006	0	0	2.972e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.004022	0.34196	U	0.000000	1	0.81001	D	2.585	0.75554	M	-4.32	0.97218	D	-3.99	0.73893	D	0.651	0.66187	0.850	0.95031	D	0.904	0.96812	D	10	0.030663997	0.01195	T	.	.	.	0.803	0.93582	.	.	0.995984178291	0.99593	0.5104773059824431	0.50969	.	.	0.823074102402	0.85500	D	0.469011	0.80271	T	-0.047313	0.44854	T	0.155897	0.80554	D	0.104640679583574	0.12859	T	0.977702	0.92108	D	0.9487797	0.96142	0.93180746	0.97219	0.9487797	0.96142	0.93180746	0.97219	-14.975	0.95793	D	.	.	0.949	0.86783	P	.	.	5.393143	0.90339	31	0.98898733811997108	0.48145	0.97263	0.73660	D	AEFBHI	0.714513	0.66697	D	0.558385490242087	0.70593	5.524516	0.430113875637802	0.63450	4.578927	0.0140351200148914	0.12544	0.59774	0.34471	0	0.547309	0.14657	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	2.57	2.57	0.29928	8.637000	0.90778	10.723000	0.83627	0.351000	0.19951	1.000000	0.71638	1.000000	0.68203	0.949000	0.49496	1.0:0.0:0.0:0.0	8.653	0.33208	546	0.72524	Fork head domain|Fork head domain|Fork head domain|Fork head domain|Fork head domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	111.98	34	chr2	113499665	.	A	T	111.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.311e+00;DP=1624;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=44.15;MQRankSum=-3.995e+00;QD=0.39;ReadPosRankSum=2.58;SOR=0.646	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1106	20	0	1	0
chr2	113719262	113719262	A	C	exonic	SLC35F5	.	nonsynonymous SNV	SLC35F5:NM_001330314:exon14:c.T1370G:p.F457C	.	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.41	B	0.257	B	0.000	D	1.000	D	0.55	N	0.9	T	-1.094	T	0.044	T	0.422	3.530	18.02	5.59	2.124	9.079	15.765	0.230	.	0.0038	0.00399361	0.0014	0.0091	0.0030	0	0	0.0006	0.0023	0	0.0012354	191	154602	rs146995908	0.0007	0.0007	0.0007	0.0006	0.0121	0.0006	0.0006	0.0111	0.0107	0.0121	0.0033	0.0042	0	0	0.0029	0.0002	0.0021	1.197e-05	0.0038	0.0039	0.0039	0.0038	0.0114	0.0036	0.0035	0.0106	0.0102	0.0114	0	0.0042	0.0023	0	0	0.0068	0.0004	0.0057	0	0.013	0.53900	D	0.066	0.44501	T	0.41	0.35064	B	0.257	0.39298	B	0.000136	0.49741	D	0.139354	0.999759	0.48800	D	0.55	0.14455	N	0.9	0.45248	T	-1.34	0.33401	N	0.703	0.70702	-1.0944	0.04839	T	0.044	0.18906	T	10	0.009230107	0.00209	T	.	.	.	0.233	0.53499	.	.	0.674874776785	0.67211	0.5800144336966416	0.57930	0.376021169568	0.39046	0.576419830322	0.49582	T	0.023627	0.20648	T	-0.397016	0.02422	T	-0.333668	0.41060	T	0.0380692179423604	0.03345	T	0.808619	0.45852	T	0.13930005	0.32182	0.14959599	0.35314	0.13930005	0.32182	0.14959599	0.35314	-9.645	0.71759	D	.	.	0.074	0.04932	B	.;.	.;.	4.141719	0.62054	24.4	0.98742839769302493	0.45527	0.99605	0.97912	D	AEFBI	0.950480	0.96416	D	0.218598318226088	0.52100	3.386464	0.369016232884326	0.59662	4.145891	0.99999990895671	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.59	5.59	0.84677	9.325000	0.96006	9.214000	0.79255	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.765	0.77890	762	0.50290	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	776.98	33	chr2	113719262	.	A	C	776.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.851;DP=750;ExcessHet=0.0000;FS=1.091;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.23;ReadPosRankSum=0.498;SOR=0.521	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1074	20	0	1	0
chr2	118847125	118847125	C	G	exonic	EN1	.	nonsynonymous SNV	EN1:NM_001426:exon1:c.G43C:p.A15P,	.	.	420	1098	4	0	0	4	0.00181818	.	.	2340571	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.311	U	1.000	N	0	N	-2.88	D	-0.631	T	0.442	T	0.158	2.465	14.20	2.43	1.851	0.556	5.759	0.173	0.705953426109	.	.	0.0001	0	0	0	.	0.0006	0	0	3.88e-05	6	154602	rs767769043	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0006	0.0004	0	0.0008	0	0	0	0.0014	0.0002	0.0001	9.123e-05	0.0003	0.0003	0.0003	0.0003	0.0007	0.0002	0.0002	0.0004	0.0003	2.409e-05	0	0.0007	0	0	9.506e-05	0.0034	0.0004	0	0	0.013	0.53900	D	0.118	0.36233	T	0.0	0.02946	B	0.0	0.01387	B	0.310909	0.14435	U	0.512646	0.999992	0.08975	N	0	0.06538	N	-2.88	0.91533	D	-0.17	0.09627	N	0.309	0.34874	-0.6310	0.63528	T	0.442	0.77971	T	9	0.09779328	0.17636	T	0.705953	0.97601	D	0.173	0.43840	0.218	0.13932	0.389366070519	0.38549	0.2152274563139408	0.21438	.	.	0.90480774641	0.96956	D	0.212039	0.57297	T	-0.277879	0.10894	T	-0.291992	0.45564	T	0.038871764732402	0.03488	T	0.248475	0.03691	T	0.13166201	0.30681	0.24595952	0.50095	0.13166201	0.30681	0.24595952	0.50093	-2.4	0.05133	T	.	.	0.121	0.25133	B	.	.	2.818513	0.37125	20.4	0.98682775020491109	0.44638	0.48581	0.28239	N	AEFDBHCIJ	0.101295	0.20349	N	-0.474571703042022	0.22916	1.226977	-0.318729320506917	0.27493	1.526009	0.999999492721277	0.74766	0.59774	0.34471	0	0.657636	0.61667	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	3.32	2.43	0.28797	0.559000	0.23190	2.573000	0.33375	-0.539000	0.04938	0.997000	0.40164	0.054000	0.21897	0.202000	0.21954	0.0:0.8497:0.0:0.1503	5.759	0.17455	738	0.53389	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	186.98	34	chr2	118847125	.	C	G	186.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.031e+00;DP=714;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.84;ReadPosRankSum=-1.750e-01;SOR=0.527	GT:AD:DP:GQ:PL	0/0:32,0:32:93:0,93,1395	20	0	1	0
chr2	119245618	119245618	G	A	exonic	STEAP3	.	nonsynonymous SNV	STEAP3:NM_001008410:exon2:c.G122A:p.R41H	.	.	419	1100	3	0	0	3	0.00136178	.	.	2376361	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	1.0	D	0.999	D	0.000	N	1.000	D	2.445	M	0.92	T	-0.697	T	0.237	T	0.776	4.547	24.6	3.15	0.679	5.511	10.478	0.311	0.0226005728151	.	0.000199681	6.638e-05	0	0	0	0	4.535e-05	0	0.0003	6.47e-05	10	154602	rs200164081	6.794e-05	7.046e-05	6.136e-05	7.461e-05	0.0003	5.688e-05	5.278e-05	0.0002	0.0002	8.987e-05	4.478e-05	0	7.586e-05	0	0	4.693e-05	0.0002	0.0003	6.564e-05	6.561e-05	3.853e-05	9.396e-05	0.0010	3.513e-05	2.614e-05	0.0004	0.0003	0	0	0	0	0.0004	0	0	4.41e-05	0	0.0010	0.014	0.53172	D	0.033	0.54541	D	1.0	0.90584	D	0.996	0.92359	D	0.000369	0.45194	N	0.196194	0.99988	0.54805	D	2.765	0.80766	M	0.92	0.44461	T	-3.57	0.71519	D	0.605	0.62273	-0.6973	0.60567	T	0.237	0.60475	T	9	0.39606678	0.55235	T	0.022601	0.45504	T	0.311	0.63269	.	.	0.572452295634	0.56912	0.7944303491786253	0.79396	0.741994381372	0.63314	0.515383183956	0.40977	T	0.265812	0.63770	T	-0.120893	0.32977	T	-0.100913	0.63327	T	0.832383692264557	0.48716	D	0.828817	0.49341	T	0.57771057	0.71483	0.30156356	0.56188	0.57771057	0.71484	0.30156356	0.56187	-7.179	0.55330	T	.	.	0.184	0.39798	B	.;.;.;.	.;.;.;.	5.083535	0.84853	28.4	0.99950569384876231	0.99944	0.96643	0.70176	D	AEFDBI	0.794035	0.72186	D	0.545023947813714	0.69778	5.405776	0.46924638369827	0.65962	4.890548	0.999969493769875	0.48965	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.96	3.15	0.35301	5.869000	0.69363	7.473000	0.59173	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.1575:0.0:0.8425:0.0	10.478	0.43860	938	0.14419	.;Pyrroline-5-carboxylate reductase, catalytic, N-terminal;Pyrroline-5-carboxylate reductase, catalytic, N-terminal;Pyrroline-5-carboxylate reductase, catalytic, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	930.98	97	chr2	119245618	.	G	A	930.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.12;DP=795;ExcessHet=0.0000;FS=0.794;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.60;ReadPosRankSum=1.17;SOR=0.568	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1068	20	0	1	0
chr2	119248162	119248162	C	A	exonic	STEAP3	.	nonsynonymous SNV	STEAP3:NM_001008410:exon3:c.C976A:p.R326S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.747	P	0.502	P	0.000	D	1.000	D	2.41	M	-2.85	D	0.283	D	0.714	D	0.803	2.528	14.41	2.75	0.524	1.100	10.060	0.770	0.0968453786746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.50132	D	0.01	0.67890	D	0.747	0.43174	P	0.502	0.47702	P	0.000211	0.47681	D	0.129690	0.995604	0.58761	D	2.75	0.80375	M	-2.85	0.91363	D	-5.11	0.83092	D	0.342	0.40765	0.283	0.87289	D	0.714	0.90174	D	9	0.5526942	0.64344	D	0.096845	0.76673	D	0.770	0.92253	0.779	0.90388	0.886352133239	0.88523	0.7938908964455941	0.79342	0.196285667944	0.21984	0.324342727661	0.14079	T	0.826052	0.95798	D	0.254078	0.78982	D	0.127189	0.78709	D	0.985827028751373	0.76706	D	0.865913	0.56692	D	0.42308262	0.62296	0.22549997	0.47496	0.42308262	0.62297	0.22549997	0.47495	-11.982	0.84763	D	.	.	0.578	0.74261	P	.;.;.;.	.;.;.;.	1.532348	0.19659	14.37	0.99546726993049461	0.70898	0.85483	0.44620	D	AEFDGBI	0.420237	0.48714	N	-0.118690096606242	0.36579	2.116266	-0.146655930252548	0.33537	1.91942	0.999981859381866	0.51787	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.6	2.75	0.31439	1.729000	0.37737	0.269000	0.16635	-0.217000	0.08171	1.000000	0.71638	0.980000	0.30356	0.005000	0.06747	0.1498:0.6909:0.1593:0.0	10.060	0.41441	940	0.13648	.;Ferric reductase transmembrane component-like domain;Ferric reductase transmembrane component-like domain;Ferric reductase transmembrane component-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1086.98	39	chr2	119248162	.	C	A	1086.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.23;DP=804;ExcessHet=0.0000;FS=5.032;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.22;ReadPosRankSum=1.27;SOR=1.367	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1148	20	0	1	0
chr2	119452057	119452057	C	T	exonic	SCTR	.	nonsynonymous SNV	SCTR:NM_002980:exon9:c.G874A:p.A292T,	.	.	431	1070	20	1	0	22	0.0101758	.	.	719210	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.8	T	0.001	B	0.009	B	0.134	N	1.000	N	0.35	N	1.16	T	-1.008	T	0.029	T	0.101	-0.393	2.157	1.42	0.409	-0.027	8.701	0.038	0.00774449728477	0.0038	0.00119808	0.0048	0.0007	0.0064	0	0.0011	0.0065	0.0059	0.0032	0.0038874	601	154602	rs140893531	0.0041	0.0041	0.0040	0.0041	0.0262	0.0040	0.0040	0.0228	0.0215	0.0010	0.0032	0.0072	0	0.0005	0.0262	0.0043	0.0048	0.0034	0.0038	0.0038	0.0042	0.0033	0.0052	0.0035	0.0034	0.0047	0.0046	0.0008	0.0680	0.0045	0.0058	0	0.0004	0.0306	0.0052	0.0057	0.0029	0.839	0.02818	T	0.547	0.09522	T	0.001	0.07471	B	0.009	0.14300	B	0.134378	0.18519	N	0.487155	1	0.08975	N	0.04	0.08086	N	1.16	0.38073	T	0.55	0.02721	N	0.307	0.34659	-1.0075	0.27696	T	0.029	0.12585	T	10	0.0034151971	0.00060	T	0.007744	0.20536	T	0.038	0.09825	.	.	0.316788114976	0.31282	0.174988369672844	0.17417	0.092802932358	0.10482	0.265227228403	0.05529	T	0.065123	0.32609	T	-0.638099	0.00085	T	-0.687857	0.06513	T	0.000873557410316044	0.00008	T	0.179182	0.01770	T	0.023302292	0.01059	0.03663332	0.03149	0.023302292	0.01059	0.03663332	0.03148	-4.812	0.34731	T	.	.	0.063	0.01491	B	.	.	0.555117	0.09238	6.019	0.6138686733643739	0.06696	0.12907	0.17550	N	AEFBCI	0.130667	0.24931	N	-1.276428183442	0.03961	0.1779107	-1.20324611166479	0.05858	0.2802926	0.0325168889516921	0.14058	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.33	1.42	0.21524	-0.029000	0.12278	-1.436000	0.05444	-0.855000	0.02678	0.000000	0.06391	0.000000	0.08366	0.960000	0.51673	0.0:0.6734:0.1212:0.2054	8.701	0.33484	939	0.14249	GPCR, family 2-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1208.98	34	chr2	119452057	.	C	T	1208.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=769;ExcessHet=0.0000;FS=0.851;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.11;ReadPosRankSum=-2.099e+00;SOR=0.865	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1237	20	0	1	0
chr2	119562095	119562095	A	G	exonic	CFAP221	.	nonsynonymous SNV	CFAP221:NM_001271049:exon6:c.A508G:p.N170D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	T	0.006	B	0.005	B	.	.	1.000	N	.	.	1.59	T	-0.979	T	0.030	T	0.088	0.455	6.468	-1.2	-0.091	1.420	9.779	0.045	0.00245808140774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.237e-06	7.525e-06	1.143e-05	2.933e-06	1.264e-05	3.66e-06	2.67e-06	3.19e-06	2.31e-06	0	0	0	0	0	0	7.426e-06	1.729e-05	1.264e-05	6.568e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.807	0.03060	T	0.908	0.03286	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	0.905	0.23240	L	1.59	0.28836	T	-0.2	0.10136	N	0.143	0.14905	-0.9790	0.35231	T	0.030	0.12892	T	8	0.06801224	0.09557	T	0.002458	0.04868	T	0.045	0.12272	.	.	0.0716867268079	0.06686	0.14198583770290552	0.14121	0.0218213112497	0.02180	0.423444211483	0.28311	T	0.006	0.17826	T	-0.29918	0.08738	T	-0.667528	0.07767	T	0.0334779592315054	0.02551	T	0.70113	0.32694	T	0.03857513	0.05166	0.07334665	0.15927	0.03857513	0.05166	0.07334665	0.15927	-6.279	0.48556	T	.	.	0.047	0.00647	B	.;.;.	.;.;.	1.335097	0.17408	13.15	0.85185796213197273	0.15737	0.28258	0.23504	N	AEFGI	0.095570	0.19306	N	-0.582049872545701	0.19490	1.020468	-0.472431153001972	0.22917	1.247126	0.00272683508629376	0.09662	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.25	-1.2	0.09062	1.546000	0.35787	2.449000	0.32805	0.565000	0.28586	0.998000	0.41325	0.927000	0.28453	0.997000	0.79791	0.4293:0.0:0.5707:0.0	9.779	0.39806	869	0.31655	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2193.08	34	chr2	119562095	.	A	G	2193.08	.	AC=2;AF=0.048;AN=42;DP=760;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.46;SOR=1.002	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	1	0	0
chr2	120174843	120174843	C	G	exonic	EPB41L5	.	nonsynonymous SNV	EPB41L5:NM_001330310:exon25:c.C2135G:p.S712C	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.973	D	0.614	P	0.038	N	1.000	N	.	.	-1.63	D	0.119	D	0.519	D	0.509	2.167	13.20	5.03	2.771	3.502	14.064	0.329	0.347399111305	.	.	2.473e-05	0	0	0	0	4.499e-05	0	0	1.94e-05	3	154602	rs759329364	3.352e-05	3.352e-05	2.722e-05	3.988e-05	0.0014	2.566e-05	2.312e-05	0.0007	0.0005	0	0	0	0	0	0.0014	2.878e-05	6.623e-05	5.797e-05	3.286e-05	3.283e-05	3.855e-05	2.69e-05	7.35e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0	0	0.012	0.54683	D	0.029	0.56192	D	0.953	0.57599	P	0.41	0.51198	B	0.038317	0.24300	N	0.305862	1	0.81001	D	.	.	.	-1.63	0.82533	D	-1.27	0.32185	N	0.388	0.42931	0.119	0.84510	D	0.519	0.82019	D	9	0.4054228	0.55859	T	0.347399	0.92178	D	0.329	0.65126	0.316	0.29258	0.84849653362	0.84704	0.22666231740675558	0.22581	0.280962310309	0.30564	0.44801941514	0.31673	T	0.081652	0.36648	T	0.0263496	0.55234	T	-0.103073	0.63158	T	0.801031649112701	0.46424	D	0.737626	0.35462	T	0.118616514	0.27944	0.06855348	0.14330	0.118616514	0.27944	0.06855348	0.14330	-5.379	0.40717	T	.	.	0.087	0.22135	B	.;.	.;.	3.271946	0.44790	22.0	0.94751504915919438	0.25453	0.82696	0.41889	D	AEFBCIJ	0.236853	0.35923	N	0.742864308404284	0.82440	7.762868	0.598887404268238	0.74859	6.209476	0.999999994492818	0.74766	0.743674	0.98306	0	0.61073	0.52368	0	0.630245	0.45026	0	0.629945	0.49285	0	.	.	5.03	5.03	0.67015	3.461000	0.52800	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.681000	0.33571	0.0:1.0:0.0:0.0	14.064	0.64342	839	0.37672	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1578.98	33	chr2	120174843	.	C	G	1578.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.243;DP=797;ExcessHet=0.0000;FS=0.721;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.49;ReadPosRankSum=0.869;SOR=0.578	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1170	20	0	1	0
chr2	120222370	120222370	C	T	exonic	TMEM185B	.	nonsynonymous SNV	TMEM185B:NM_024121:exon1:c.G607A:p.V203I,	.	.	422	1095	5	0	0	5	0.0022779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0063	0	0	0	0	0.0003	0	0.0102	0.0005692	88	154602	rs551008780	0.0006	0.0006	0.0003	0.0009	0.0094	0.0006	0.0006	0.0088	0.0086	3.165e-05	0	0	2.798e-05	0	0.0014	5.005e-05	0.0007	0.0094	0.0003	0.0003	0.0002	0.0004	0.0101	0.0003	0.0002	0.0079	0.0071	0	0	0	0	0.0002	0	0	0	0	0.0101	0.71	0.04044	T	0.501	0.11153	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	0.997567	0.22606	N	-1.995	0.00197	N	1.97	0.22067	T	0.19	0.04947	N	0.037	0.01135	.	.	.	.	.	.	.	0.004203975	0.00084	T	.	.	.	.	.	.	.	0.537262924806	0.53376	0.3218051688916848	0.32093	0.187302612443	0.21046	0.550898313522	0.45984	T	0.001997	0.01403	T	-0.656454	0.00066	T	-0.708621	0.05366	T	.	.	.	0.605739	0.22785	T	0.024513133	0.01291	0.034353644	0.02486	0.024513133	0.01291	0.034353644	0.02486	-4.439	0.30082	T	.	.	0.079	0.07318	B	.	.	2.512071	0.32444	19.04	0.95413741429505683	0.26883	0.76041	0.37265	D	AEFDGBCI	0.184390	0.31171	N	.	.	.	.	.	.	0.999999768463324	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.493711	0.08198	1	0.735409	0.98432	0	.	.	3.99	3.12	0.34986	4.602000	0.60805	.	.	-0.180000	0.10397	1.000000	0.71638	1.000000	0.68203	0.649000	0.32665	0.0:0.7844:0.0:0.2156	6.308	0.20358	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2591.98	34	chr2	120222370	.	C	T	2591.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.070;DP=935;ExcessHet=0.0000;FS=2.524;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.86;ReadPosRankSum=1.20;SOR=0.761	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1071	20	0	1	0
chr2	120955382	120955382	G	A	exonic	GLI2	.	nonsynonymous SNV	GLI2:NM_001374354:exon4:c.G220A:p.G74S	Culler-Jones syndrome, Autosomal dominant;Holoprosencephaly 9, Autosomal dominant	.	1	1519	2	0	0	2	0.000657895	.	.	283817	Holoprosencephaly_9|GLI2-related_disorder|Postaxial_polydactyly-anterior_pituitary_anomalies-facial_dysmorphism_syndrome	MONDO:MONDO:0012563,MedGen:C1835819,OMIM:610829,Orphanet:2162|.|MONDO:MONDO:0014369,MedGen:C4014479,OMIM:615849,Orphanet:420584	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.71	T	0.748	P	0.43	B	0.010	N	1.000	D	1.545	L	-1.02	T	-0.666	T	0.323	T	0.491	3.047	16.17	2.9	0.576	3.829	9.914	0.297	0.059518331869	.	0.000399361	0.0005	0.0001	0	0	0	1.634e-05	0.0012	0.0034	0.000401	62	154602	rs542892514	0.0002	0.0002	9.811e-05	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	0	0	0	0	0	0.0002	1.62e-05	0.0004	0.0023	8.54e-05	8.53e-05	5.141e-05	0.0001	0.0021	4.956e-05	3.962e-05	0.0011	0.0009	2.406e-05	0	6.534e-05	0	0	0	0	1.471e-05	0	0.0021	0.156	0.24090	T	0.14	0.33554	T	0.748	0.43202	P	0.43	0.45392	B	0.010281	0.29986	N	0.333668	1	0.81001	D	0.74	0.18910	N	-1.02	0.76300	T	-1.83	0.42957	N	0.386	0.42737	-0.6662	0.62000	T	0.323	0.69160	T	10	0.03045237	0.01172	T	0.059518	0.67689	D	0.297	0.61730	.	.	0.828300695968	0.82667	0.627326364951197	0.62665	0.332517542101	0.35298	0.371491253376	0.21046	T	0.436806	0.78306	T	-0.296152	0.09028	T	-0.201856	0.54470	T	0.0966371503767715	0.11982	T	0.789321	0.42944	T	0.040447686	0.05774	0.08050302	0.18217	0.040447686	0.05774	0.08050302	0.18216	-4.038	0.24370	T	.	.	0.070	0.03661	B	.;.	.;.	2.869711	0.37944	20.6	0.99697759888077608	0.80385	0.85589	0.44737	D	AEFDBCI	0.656010	0.62815	D	-0.337242329761152	0.27743	1.524646	-0.313726530226094	0.27654	1.536084	0.99999538529776	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	4.73	2.9	0.32809	4.086000	0.57387	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.397000	0.26714	0.0762:0.1393:0.7845:0.0	9.914	0.40590	693	0.58582	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2565.98	36	chr2	120955382	.	G	A	2565.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.968e+00;DP=1611;ExcessHet=0.0000;FS=0.535;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.43;ReadPosRankSum=-3.320e-01;SOR=0.757	GT:AD:DP:GQ:PL	0/0:78,0:78:99:0,120,1800	20	0	1	0
chr2	120986508	120986508	C	A	exonic	GLI2	.	nonsynonymous SNV	GLI2:NM_001374354:exon12:c.C1761A:p.F587L	Culler-Jones syndrome, Autosomal dominant;Holoprosencephaly 9, Autosomal dominant	.	0	1519	2	0	1	3	0.000657895	.	.	269632	GLI2-related_disorder|Holoprosencephaly_9|Postaxial_polydactyly-anterior_pituitary_anomalies-facial_dysmorphism_syndrome|Inborn_genetic_diseases|not_specified	.|MONDO:MONDO:0012563,MedGen:C1835819,OMIM:610829,Orphanet:2162|MONDO:MONDO:0014369,MedGen:C4014479,OMIM:615849,Orphanet:420584|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.004	B	0.003	B	0.000	N	0.893	D	-0.75	N	2.85	T	-0.957	T	0.011	T	0.135	0.030	4.172	-4.17	-0.710	-1.393	2.717	0.043	0.00301202664379	.	0.00119808	0.0008	9.688e-05	0	0.0001	0	1.507e-05	0.0022	0.0058	0.0007309	113	154602	rs151179617	0.0003	0.0003	0.0002	0.0005	0.0049	0.0003	0.0003	0.0045	0.0044	0	0	0	7.557e-05	0	0.0002	1.888e-05	0.0007	0.0049	0.0002	0.0002	6.424e-05	0.0003	0.0044	0.0001	9.233e-05	0.0029	0.0025	2.405e-05	0	0	0	0	0	0	1.47e-05	0.0005	0.0044	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.001	0.04355	B	0.000271	0.46590	N	0.190810	0.893234	0.36000	D	0.225	0.09600	N	2.85	0.10578	T	0.2	0.04861	N	0.253	0.29081	-0.9567	0.39789	T	0.011	0.04088	T	10	0.007616669	0.00173	T	0.003012	0.06457	T	0.043	0.11576	0.206	0.12216	0.231005064126	0.22704	0.1349953438755376	0.13423	0.378555398696	0.39267	0.471986532211	0.34953	T	0.292679	0.66540	T	-0.674332	0.00052	T	-0.739903	0.03895	T	0.00367637285019415	0.00039	T	0.691931	0.30130	T	0.022781841	0.00965	0.031113928	0.01657	0.028577484	0.02216	0.033707824	0.02310	3.86	0.00010	T	.	.	0.271	0.50817	B	.;.	.;.	-0.976549	0.00805	0.027	0.73521090880562889	0.10358	0.17017	0.19652	N	AEFDBI	0.141512	0.26370	N	-1.57773241972852	0.01379	0.06012452	-1.46620898069423	0.02626	0.1211341	0.993160851510837	0.33110	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	4.89	-4.17	0.03595	-2.175000	0.01348	.	.	-1.666000	0.00806	0.000000	0.06391	0.000000	0.08366	0.776000	0.36750	0.1278:0.1278:0.2247:0.5197	2.717	0.04869	697	0.58201	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	2559.98	38	chr2	120986508	.	C	A	2559.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.300e-02;DP=937;ExcessHet=0.0000;FS=1.070;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=-1.731e+00;SOR=0.789	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr2	120988622	120988622	C	G	exonic	GLI2	.	nonsynonymous SNV	GLI2:NM_001374354:exon13:c.C2282G:p.T761S	Culler-Jones syndrome, Autosomal dominant;Holoprosencephaly 9, Autosomal dominant	.	4	1516	2	0	0	2	0.000659196	.	.	269631	not_provided|Postaxial_polydactyly-anterior_pituitary_anomalies-facial_dysmorphism_syndrome|Holoprosencephaly_9|Inborn_genetic_diseases|not_specified|GLI2-related_disorder	MedGen:C3661900|MONDO:MONDO:0014369,MedGen:C4014479,OMIM:615849,Orphanet:420584|MONDO:MONDO:0012563,MedGen:C1835819,OMIM:610829,Orphanet:2162|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.997	D	0.000	D	1.000	D	2.375	M	-2.99	D	0.920	D	0.867	D	0.668	3.593	18.30	4.6	2.390	7.196	17.596	0.581	0.610079480156	.	0.00119808	0.0045	0	0	0	0	0	0	0.0072	0.0004657	72	154602	rs572826436	0.0003	0.0003	0.0002	0.0005	0.0050	0.0003	0.0003	0.0045	0.0044	0	0	0	0.0001	0	0.0002	1.724e-05	0.0007	0.0050	0.0002	0.0002	6.473e-05	0.0003	0.0048	0.0001	0.0001	0.0033	0.0028	2.412e-05	0	0	0	0	0	0	1.479e-05	0.0005	0.0048	0.013	0.53900	D	0.119	0.36101	T	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.052232	0.999902	0.50806	D	2.58	0.75369	M	-2.99	0.92108	D	-3.17	0.64363	D	0.281	0.37301	0.920	0.95952	D	0.867	0.95580	D	10	0.010597259	0.00235	T	0.610079	0.96593	D	0.581	0.83137	0.205	0.12076	0.860502911996	0.85915	0.41221432367709315	0.41137	0.98996793684	0.74031	0.830188751221	0.86591	D	0.861673	0.96936	D	-0.0753124	0.40473	T	0.119035	0.78171	D	0.232219366541824	0.22056	T	0.838616	0.51177	T	0.419171	0.62036	0.28689033	0.54699	0.49807093	0.66983	0.2755065	0.53487	-6.193	0.47866	T	.	.	0.236	0.46972	B	.;.	.;.	3.680406	0.52381	23.2	0.99053763118265459	0.51321	0.99334	0.94646	D	AEFBI	0.870305	0.79122	D	0.603555724324532	0.73399	5.960	0.495638472418361	0.67699	5.119306	0.999999999994314	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.6	4.6	0.56512	7.449000	0.79702	.	.	0.498000	0.22619	1.000000	0.71638	1.000000	0.68203	0.040000	0.14268	0.0:1.0:0.0:0.0	17.596	0.87913	697	0.58201	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	714.98	35	chr2	120988622	.	C	G	714.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.130e+00;DP=734;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.90;ReadPosRankSum=0.732;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1143	20	0	1	0
chr2	120989374	120989374	G	A	exonic	GLI2	.	nonsynonymous SNV	GLI2:NM_001374354:exon13:c.G3034A:p.V1012I	Culler-Jones syndrome, Autosomal dominant;Holoprosencephaly 9, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	283860	GLI2-related_disorder|Postaxial_polydactyly-anterior_pituitary_anomalies-facial_dysmorphism_syndrome|Holoprosencephaly_9	.|MONDO:MONDO:0014369,MedGen:C4014479,OMIM:615849,Orphanet:420584|MONDO:MONDO:0012563,MedGen:C1835819,OMIM:610829,Orphanet:2162	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.912	P	0.208	B	0.174	N	0.959	D	2.095	M	2.4	T	-0.993	T	0.038	T	0.119	1.497	10.96	-7.67	-2.229	0.013	21.388	0.143	0.00855994381457	.	0.00119808	0.0010	0.0001	0	0	0.0006	7.883e-05	0.0023	0.0060	0.0007762	120	154602	rs200999705	0.0004	0.0004	0.0002	0.0005	0.0053	0.0004	0.0003	0.0049	0.0047	0	0	0	0	0.0004	0.0002	4.856e-05	0.0005	0.0053	0.0002	0.0002	6.423e-05	0.0003	0.0048	0.0001	0.0001	0.0033	0.0028	2.405e-05	0	0	0	0	0	0	1.47e-05	0.0005	0.0048	0.028	0.46129	D	0.362	0.16865	T	0.714	0.42167	P	0.084	0.29270	B	0.174083	0.17289	N	0.614735	0.958563	0.38082	D	2.73	0.79844	M	2.4	0.15608	T	-0.73	0.20576	N	0.111	0.09772	-0.9929	0.31853	T	0.038	0.16462	T	9	0.0058817863	0.00132	T	0.00856	0.22631	T	0.143	0.38195	.	.	0.330131851566	0.32626	0.027089717986565696	0.02658	0.283359046316	0.30779	0.267864227295	0.05864	T	0.468985	0.80270	T	-0.602178	0.00141	T	-0.635845	0.09975	T	0.0418941686108869	0.04035	T	0.822518	0.48242	T	0.04696511	0.07948	0.08832438	0.20586	0.058320735	0.11718	0.08019601	0.18121	-5.014	0.36992	T	.	.	0.117	0.23814	B	.;.	.;.	-0.831877	0.01046	0.045	0.82864421424232426	0.14415	0.07008	0.13034	N	AEFDBI	0.105908	0.21148	N	-1.0302264698652	0.07981	0.3726483	-1.24517672865758	0.05203	0.2473326	0.999460132751852	0.39843	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.87	-7.67	0.01133	0.194000	0.16941	.	.	-2.714000	0.00206	0.015000	0.19116	0.000000	0.08366	0.009000	0.08673	0.1055:0.0:0.8945:0.0	21.388	0.99954	697	0.58201	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	2818.98	33	chr2	120989374	.	G	A	2818.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.299e+00;DP=955;ExcessHet=0.0000;FS=1.091;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=-9.540e-01;SOR=0.617	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1178	20	0	1	0
chr2	120990474	120990474	T	G	exonic	GLI2	.	nonsynonymous SNV	GLI2:NM_001374354:exon13:c.T4134G:p.D1378E	Culler-Jones syndrome, Autosomal dominant;Holoprosencephaly 9, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	690729	Holoprosencephaly_9|Postaxial_polydactyly-anterior_pituitary_anomalies-facial_dysmorphism_syndrome|GLI2-related_disorder|not_specified|Inborn_genetic_diseases	MONDO:MONDO:0012563,MedGen:C1835819,OMIM:610829,Orphanet:2162|MONDO:MONDO:0014369,MedGen:C4014479,OMIM:615849,Orphanet:420584|.|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.999	D	0.000	D	1.000	D	1.97	M	2.08	T	-1.104	T	0.097	T	0.438	3.480	17.81	0.46	0.065	-0.304	8.184	0.140	0.012143239122	.	0.00119808	0.0009	9.61e-05	0	0	0	1.499e-05	0.0022	0.0061	0.0007374	114	154602	rs148902971	0.0003	0.0003	0.0002	0.0005	0.0053	0.0003	0.0003	0.0049	0.0047	0	0	0	0	0	0.0002	1.978e-05	0.0005	0.0053	0.0002	0.0002	6.434e-05	0.0003	0.0046	0.0001	9.712e-05	0.0031	0.0026	2.411e-05	0	0	0	0	0	0	1.472e-05	0.0005	0.0046	0.096	0.31088	T	0.242	0.24264	T	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.993158	0.81001	D	2.16	0.60381	M	2.08	0.20255	T	-3.53	0.68532	D	0.276	0.45426	-1.1042	0.03620	T	0.097	0.36289	T	10	0.0089434385	0.00202	T	0.012143	0.30444	T	0.140	0.37593	0.415	0.45380	0.553613530234	0.55019	0.23111098123495497	0.23026	0.30992876503	0.33302	0.691289424896	0.65891	T	0.605503	0.87419	D	-0.46865	0.00867	T	-0.443903	0.28371	T	0.144600420726728	0.16665	T	0.89621	0.63821	D	0.2711871	0.50189	0.21622759	0.46243	0.25917405	0.48970	0.21088973	0.45493	-4.457	0.30322	T	.	.	0.386	0.59005	A	.;.	.;.	2.008987	0.25529	16.79	0.99542126712036594	0.70586	0.47749	0.28053	N	AEFDBI	0.464170	0.51278	N	0.0796897720188608	0.45516	2.806824	-0.0490531016157197	0.37531	2.198759	0.81670771387388	0.24451	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	4.98	0.46	0.15895	-0.386000	0.07428	.	.	-0.120000	0.14102	0.149000	0.23640	0.000000	0.08366	0.992000	0.67800	0.0:0.4997:0.0:0.5003	8.184	0.30491	697	0.58201	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	1373.98	33	chr2	120990474	.	T	G	1373.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.08;DP=890;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=-1.370e-01;SOR=0.702	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1178	20	0	1	0
chr2	121736754	121736754	T	C	exonic	NIFK	.	nonsynonymous SNV	NIFK:NM_032390:exon1:c.A97G:p.I33V,	.	.	419	1071	32	0	0	32	0.0147194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.001	B	0.001	B	0.920	N	1.000	N	1.39	L	2.38	T	-0.967	T	0.021	T	0.057	0.358	5.944	-0.361	-0.211	0.124	3.592	0.015	0.00365381184315	0.0005	0.00219649	0.0011	0	0.0011	0	0	0.0012	0.0022	0.0024	0.0010543	163	154602	rs150674424	0.0008	0.0008	0.0006	0.0009	0.0127	0.0007	0.0007	0.0103	0.0095	0.0003	0.0019	0.0003	0	3.744e-05	0.0127	0.0006	0.0016	0.0021	0.0006	0.0006	0.0005	0.0007	0.0021	0.0005	0.0005	0.0012	0.0011	0.0002	0	0.0018	0	0.0002	0	0.0068	0.0005	0.0028	0.0021	0.78	0.22920	T	0.72	0.35082	T	0.001	0.07471	B	0.001	0.04355	B	0.919597	0.08496	N	0.962951	1	0.08975	N	0	0.06538	N	2.38	0.15843	T	0.0	0.12661	N	0.05	0.02179	-0.9671	0.37794	T	0.021	0.09009	T	10	0.00405547	0.00079	T	0.003654	0.08402	T	0.015	0.02232	.	.	0.340510301474	0.33666	0.21560032084306935	0.21476	0.0938221672316	0.10595	0.281098932028	0.07646	T	0.012792	0.11182	T	-0.701879	0.00036	T	-0.787144	0.02244	T	0.0225315469418144	0.00969	T	0.318868	0.10241	T	0.032420773	0.03264	0.033643756	0.02295	0.032420773	0.03264	0.033643756	0.02294	-3.715	0.19540	T	.	.	0.073	0.33179	B	.;.	.;.	0.992886	0.13709	10.25	0.76246405758181179	0.11391	0.00590	0.02647	N	ALL	0.019555	0.00689	N	-1.20663186720539	0.04901	0.2222544	-1.28291433113126	0.04661	0.2203831	0.99999999999498	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.3	-0.361	0.11939	0.123000	0.15536	0.233000	0.16214	0.490000	0.22344	0.006000	0.17386	0.000000	0.08366	0.041000	0.14368	0.0:0.4952:0.2008:0.304	3.592	0.07540	818	0.41518	.;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3939.66	36	chr2	121736754	.	T	C	3939.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-6.920e-01;DP=856;ExcessHet=0.0000;FS=1.382;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=20.63;ReadPosRankSum=-3.960e-01;SOR=0.868	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1210	19	1	1	0
chr2	124798175	124798175	C	G	exonic	CNTNAP5	.	nonsynonymous SNV	CNTNAP5:NM_001367498:exon19:c.C3072G:p.S1024R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.198	B	0.058	B	0.023	N	0.975	D	2.865	M	0.71	T	-0.885	T	0.153	T	0.65	1.492	10.94	0.401	0.115	1.941	11.525	0.222	0.0197585046779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.169e-06	7.46e-05	1.228e-05	0	8.112e-06	2.9e-06	2.1e-06	3.82e-06	2.76e-06	0	0	0	0	0	0	8.112e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	0.37326	T	0.025	0.56192	D	0.198	0.29589	B	0.058	0.26451	B	0.022842	0.26555	N	0.313001	0.97517	0.39166	D	2.815	0.81989	M	0.71	0.51228	T	-3.33	0.66206	D	0.831	0.82660	-0.8851	0.49349	T	0.153	0.48257	T	10	0.65605485	0.69880	D	0.019759	0.42203	T	0.222	0.51872	0.435	0.48664	0.361758802978	0.35793	0.6951138276526944	0.69452	0.241818290328	0.26701	0.45844399929	0.33097	T	0.185956	0.53910	T	0.00764218	0.52703	T	-0.226799	0.52080	T	0.937857866287231	0.60799	D	0.691931	0.30130	T	0.32975513	0.55451	0.31521225	0.57509	0.32975513	0.55451	0.31521225	0.57508	-10.184	0.75006	D	.	.	0.379	0.58393	A	.	.	2.540979	0.32871	19.17	0.99060784371643462	0.51482	0.90005	0.50852	D	AEFI	0.369386	0.45614	N	-0.375600167826072	0.26341	1.436866	-0.422944519539033	0.24326	1.331436	1.98354847856055E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.93	0.401	0.15558	1.992000	0.40357	0.593000	0.19842	0.599000	0.40250	0.965000	0.33920	0.050000	0.21810	0.928000	0.46473	0.0:0.6475:0.0:0.3525	11.525	0.49825	938	0.14419	Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	168.98	38	chr2	124798175	.	C	G	168.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.254e+00;DP=1018;ExcessHet=0.0000;FS=160.782;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.61;ReadPosRankSum=1.76;SOR=7.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1369	20	0	1	0
chr2	124798176	124798176	C	G	exonic	CNTNAP5	.	nonsynonymous SNV	CNTNAP5:NM_001367498:exon19:c.C3073G:p.L1025V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.055	B	0.033	B	0.955	N	0.998	N	2.015	M	0.63	T	-0.928	T	0.123	T	0.121	-0.326	2.452	5.05	2.814	-0.731	5.219	0.128	0.0052014953642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.234e-05	6.571e-05	1.501e-05	9.644e-06	1.442e-05	7.71e-06	6.36e-06	8.54e-06	6.91e-06	0	0	3.829e-05	0	0	0	1.442e-05	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.546	0.06669	T	0.574	0.08685	T	0.055	0.22733	B	0.033	0.22329	B	0.955176	0.07682	N	1.026910	0.99767	0.22562	N	2.115	0.58683	M	0.63	0.53088	T	-0.11	0.08653	N	0.129	0.12341	-0.9285	0.44357	T	0.123	0.42589	T	10	0.058574677	0.06907	T	0.005201	0.13248	T	0.128	0.35103	0.341	0.33302	0.428169733428	0.42434	0.23500268934532034	0.23415	0.0844667912105	0.09542	0.257001668215	0.04540	T	0.012832	0.11210	T	-0.248544	0.14279	T	-0.594793	0.13253	T	0.124164062241365	0.14832	T	0.626037	0.24205	T	0.07393395	0.16556	0.053482354	0.09018	0.07393395	0.16555	0.053482354	0.09018	-5.988	0.46179	T	.	.	0.073	0.04477	B	.	.	0.764482	0.11341	7.961	0.63272136431199155	0.07180	0.21676	0.21485	N	AEFI	0.175134	0.30229	N	-0.486500131997058	0.22523	1.203204	-0.444494743368801	0.23705	1.29416	3.3332960385866E-5	0.03775	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.93	5.05	0.67566	-0.778000	0.04770	-0.714000	0.07736	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.926000	0.46234	0.1843:0.6606:0.0:0.1551	5.219	0.14680	938	0.14419	Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	152.98	109	chr2	124798176	.	C	G	152.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.018e+00;DP=1647;ExcessHet=0.0000;FS=160.861;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.54;ReadPosRankSum=1.90;SOR=7.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1369	20	0	1	0
chr2	127419902	127419902	A	T	exonic	PROC	.	nonsynonymous SNV	PROC:NM_001375602:exon2:c.A143T:p.E48V	Thrombophilia due to protein C deficiency, autosomal dominant, Autosomal dominant;Thrombophilia due to protein C deficiency, autosomal recessive, Autosomal recessive	.	2	1490	29	1	0	31	0.0102956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.00219649	0.0021	9.745e-05	0.0003	0.0001	0	0.0004	0.0011	0.0136	0.0017852	276	154602	rs202233007	0.0010	0.0010	0.0006	0.0015	0.0138	0.0010	0.0010	0.0132	0.0129	0.0002	0.0001	3.826e-05	5.038e-05	9.408e-05	0.0061	0.0002	0.0014	0.0138	0.0007	0.0007	0.0005	0.0010	0.0143	0.0006	0.0006	0.0116	0.0106	0	0	0.0003	0	0.0004	0	0.0068	0.0004	0.0014	0.0143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	658.98	28	chr2	127419902	.	A	T	658.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.278e+00;DP=714;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.07;ReadPosRankSum=-1.240e-01;SOR=0.557	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1135	20	0	1	0
chr2	127426085	127426085	T	G	exonic	PROC	.	nonsynonymous SNV	PROC:NM_001375603:exon6:c.T701G:p.V234G	Thrombophilia due to protein C deficiency, autosomal dominant, Autosomal dominant;Thrombophilia due to protein C deficiency, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	0.0012	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	B	0.035	B	0.165	N	0.999	D	1.505	L	-3.17	D	-0.175	T	0.666	D	0.557	1.038	9.241	0.447	0.234	0.319	6.718	0.458	0.976387761484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.11844	T	0.49	0.15842	T	0.04	0.25173	B	0.021	0.22741	B	0.164553	0.17559	N	0.420309	0.995215	0.45987	D	2.015	0.55033	M	-3.17	0.95282	D	-2.86	0.71519	D	0.22	0.26111	-0.1749	0.78308	T	0.666	0.88418	D	9	0.46372572	0.59442	T	0.976388	0.99867	D	0.458	0.75619	0.566	0.68768	0.908420004636	0.90750	0.9567647769327902	0.95661	0.590220216331	0.54492	0.517414927483	0.41262	T	0.749975	0.93141	D	0.126901	0.67057	D	-0.0554924	0.66645	D	0.130004361271858	0.15382	T	0.329867	0.12799	T	0.86666936	0.88600	0.3716135	0.62387	0.86666936	0.88601	0.3716135	0.62387	-6.954	0.53698	T	.	.	0.100	0.35581	B	.;.;.	.;.;.	1.749503	0.22256	15.55	0.77757963980282541	0.12010	0.48431	0.28205	N	AEFBCI	0.732954	0.67954	D	-0.533795729774363	0.20994	1.110932	-0.520629303807163	0.21593	1.168861	0.999589950306635	0.40607	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.0	0.447	0.15819	0.124000	0.15557	1.549000	0.27280	0.580000	0.29708	0.987000	0.36337	1.000000	0.68203	0.554000	0.30269	0.0:0.319:0.0:0.681	6.718	0.22502	964	0.07719	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2317.98	33	chr2	127426085	.	T	G	2317.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=881;ExcessHet=0.0000;FS=1.873;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=-4.240e-01;SOR=0.856	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1227	20	0	1	0
chr2	127505019	127505019	G	A	exonic	IWS1	.	nonsynonymous SNV	IWS1:NM_017969:exon3:c.C884T:p.P295L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.989	D	0.797	P	0.001	D	1.000	D	1.895	L	1.39	T	-0.933	T	0.166	T	0.347	3.195	16.70	5.92	2.813	2.160	14.754	0.060	0.0150779276269	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1343383187	2.054e-06	2.052e-06	0	4.128e-06	3.004e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	3.004e-05	0	0	0	0	0	1.799e-06	0	0	6.587e-06	6.572e-06	0	1.349e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.002	0.72154	D	0.048	0.48594	D	0.989	0.62824	D	0.797	0.58061	P	0.000547	0.43413	D	0.207171	0.999945	0.51968	D	2.365	0.68172	M	1.38	0.34050	T	-1.91	0.44471	N	0.322	0.36254	-0.9334	0.43636	T	0.166	0.50372	T	10	0.2928818	0.46864	T	0.015078	0.35602	T	0.060	0.17295	0.228	0.15406	0.322284741503	0.31843	0.1634563126187872	0.16265	0.561187484419	0.52626	0.441911906004	0.30839	T	0.022546	0.17365	T	-0.0821651	0.39361	T	-0.355801	0.38538	T	0.721257269382477	0.41762	D	0.840116	0.51512	T	0.0633392	0.13325	0.12968057	0.31175	0.0633392	0.13325	0.12968057	0.31174	-5.939	0.45766	T	.	.	0.073	0.04806	B	.	.	4.004261	0.59023	24.0	0.99874519637325399	0.95160	0.94709	0.62060	D	AEFDBCIJ	0.444514	0.50137	N	0.511278683107034	0.67754	5.124228	0.504766801549491	0.68311	5.202507	0.999997872878267	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	3.249000	0.51138	6.454000	0.55680	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.509000	0.29221	0.0:0.0:0.8467:0.1533	14.754	0.69169	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2898.98	35	chr2	127505019	.	G	A	2898.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.59;DP=917;ExcessHet=0.0000;FS=7.438;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=1.000e-03;SOR=0.960	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr2	127588439	127588439	C	A	exonic	MYO7B	.	nonsynonymous SNV	MYO7B:NM_001080527:exon15:c.C1738A:p.L580M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.1	B	0.098	B	0.106	N	0.981	N	2.475	M	-2.55	D	-0.188	T	0.605	D	0.258	0.411	6.230	2.33	-0.037	1.140	3.062	0.383	0.0147652066762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.118	0.36233	T	0.1	0.25713	B	0.098	0.30479	B	0.105752	0.19644	N	0.457310	0.993095	0.23773	N	1.2	0.30300	L	-2.55	0.89561	D	-1.34	0.33401	N	0.411	0.45142	-0.1876	0.77989	T	0.605	0.85979	D	10	0.34224337	0.51259	T	0.014765	0.35101	T	0.383	0.70029	0.695	0.83219	0.37568098594	0.37176	0.4645993387755176	0.46378	0.405557829885	0.41453	0.31606400013	0.12824	T	0.272933	0.64535	T	-0.0160102	0.49420	T	-0.260774	0.48748	T	0.101186871528625	0.12487	T	0.777122	0.41012	T	0.18641825	0.40049	0.10698253	0.25747	0.18641825	0.40048	0.10698253	0.25747	-6.749	0.52178	T	.	.	0.104	0.18705	B	.;.	.;.	0.945591	0.13213	9.715	0.94361243992223354	0.24719	0.40948	0.26549	N	AEFDI	0.264117	0.38153	N	-1.08332506019608	0.06950	0.3214348	-1.10362679920391	0.07631	0.3719274	0.814722112231575	0.24418	0.638212	0.43195	0	0.670034	0.63936	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.1	2.33	0.27981	1.183000	0.31651	0.796000	0.21614	-0.898000	0.02344	0.576000	0.27554	0.237000	0.23824	0.044000	0.14658	0.1066:0.4521:0.2304:0.2109	3.062	0.05829	958	0.09170	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class VII myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class VII myosin, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	53.98	41	chr2	127588439	.	C	A	53.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.500e+00;DP=853;ExcessHet=0.0000;FS=55.760;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.48;ReadPosRankSum=1.19;SOR=6.184	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1228	20	0	1	0
chr2	127627281	127627281	C	A	exonic	MYO7B	.	nonsynonymous SNV	MYO7B:NM_001080527:exon32:c.C4353A:p.F1451L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.991	D	0.783	P	0.000	D	0.994	D	2.485	M	-3.45	D	-0.672	T	0.270	T	0.574	4.042	20.7	3.9	1.241	1.167	8.050	0.326	0.158242407878	.	.	3.637e-05	0	0	0	0	3.269e-05	0.0012	6.745e-05	2.59e-05	4	154602	rs781673276	2.327e-05	2.326e-05	2.043e-05	2.615e-05	0.0016	1.675e-05	1.478e-05	0.0008	0.0006	0	2.239e-05	0	0	0	0.0016	1.529e-05	9.942e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.005	0.72224	D	0.991	0.64070	D	0.783	0.57419	P	0.000001	0.84330	D	0.056827	0.99431	0.42237	D	3.185	0.88900	M	-3.45	0.94469	D	-5.19	0.87063	D	0.768	0.80572	-0.6721	0.61733	T	0.270	0.64193	T	10	0.8125786	0.80527	D	0.158242	0.83867	D	0.748	0.91328	0.677	0.81496	0.833988851327	0.83241	0.8257265811233876	0.82530	0.477184100314	0.46833	0.623649001122	0.56245	T	0.025091	0.49651	T	0.0821453	0.62290	D	0.0365854	0.72705	D	0.81680953502655	0.47536	D	0.960504	0.85148	D	0.6955315	0.77812	0.5418114	0.73518	0.6955315	0.77814	0.5418114	0.73519	-12.182	0.85726	D	.	.	0.917	0.83999	P	.;.;.	.;.;.	3.437734	0.47809	22.5	0.99866745642968513	0.94457	0.94118	0.60166	D	AEFDBI	0.660338	0.63094	D	0.1422813616026	0.48447	3.056862	0.139020688579472	0.46563	2.90029	0.997657519498631	0.35867	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.78	3.9	0.44240	1.305000	0.33098	0.378000	0.17749	0.596000	0.33519	1.000000	0.71638	0.264000	0.24003	0.974000	0.55675	0.0:0.7559:0.0:0.2441	8.050	0.29734	946	0.12043	FERM domain;FERM domain;FERM domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1001.98	33	chr2	127627281	.	C	A	1001.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.999e+00;DP=779;ExcessHet=0.0000;FS=1.976;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.01;ReadPosRankSum=-8.370e-01;SOR=0.474	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1314	20	0	1	0
chr2	127631674	127631674	A	G	exonic	MYO7B	.	nonsynonymous SNV	MYO7B:NM_001080527:exon37:c.A5092G:p.T1698A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.008	B	0.012	B	0.178	N	1.000	N	0.69	N	-2.85	D	-0.782	T	0.403	T	0.036	0.906	8.686	-0.21	0.812	-0.099	1.745	0.113	0.0373345099302	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1307646995	6.846e-07	6.84e-07	0	1.376e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.11994	T	0.527	0.10209	T	0.008	0.14655	B	0.012	0.16012	B	0.177692	0.17190	N	0.527792	0.999978	0.18612	N	0.49	0.13296	N	-2.85	0.91363	D	-0.2	0.12472	N	0.149	0.15187	-0.7818	0.56201	T	0.403	0.75359	T	10	0.06397897	0.08416	T	0.037335	0.57553	D	0.113	0.31778	0.389	0.41115	0.294206760003	0.29026	0.08476603274096495	0.08410	0.0835327217354	0.09421	0.2628890872	0.05238	T	0.043738	0.53060	T	-0.289884	0.09647	T	-0.485046	0.23912	T	0.0268208980560303	0.01519	T	0.675032	0.28342	T	0.17988154	0.39081	0.04838832	0.07176	0.17988154	0.39081	0.04838832	0.07175	-3.792	0.20685	T	.	.	0.064	0.02145	B	.;.;.	.;.;.	0.013060	0.04373	1.126	0.79396083502705805	0.12722	0.09569	0.15295	N	AEFDBCI	0.118204	0.23123	N	-1.03667476488495	0.07851	0.3661421	-0.953247924149598	0.10848	0.5490186	0.999943722188742	0.47345	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.23	-0.21	0.12529	-0.093000	0.11077	0.348000	0.17448	-0.114000	0.14653	0.000000	0.06391	0.000000	0.08366	0.255000	0.23391	0.2206:0.0849:0.2089:0.4856	1.745	0.02782	946	0.12043	MyTH4 domain|MyTH4 domain|MyTH4 domain;MyTH4 domain|MyTH4 domain|MyTH4 domain;MyTH4 domain|MyTH4 domain|MyTH4 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1323.98	40	chr2	127631674	.	A	G	1323.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=857;ExcessHet=0.0000;FS=1.746;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.55;ReadPosRankSum=0.624;SOR=0.929	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,105,1575	20	0	1	0
chr2	127632260	127632260	G	A	exonic	MYO7B	.	nonsynonymous SNV	MYO7B:NM_001080527:exon38:c.G5186A:p.R1729Q,	.	.	151	1351	19	1	0	21	0.00771208	.	.	2812301	not_provided|MYO7B-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.798	P	0.173	B	0.003	N	0.968	D	1.89	L	-3.11	D	0.432	D	0.626	D	0.163	3.209	16.75	4.74	2.180	4.018	8.511	0.440	0.187200906884	0.0033	0.00199681	0.0054	0.0015	0.0027	0	0.0018	0.0085	0.0053	0.0017	0.0047994	742	154602	rs190699169	0.0066	0.0066	0.0067	0.0065	0.0077	0.0065	0.0065	0.0076	0.0075	0.0012	0.0049	0.0096	0	0.0010	0.0061	0.0077	0.0056	0.0016	0.0043	0.0043	0.0046	0.0040	0.0064	0.0040	0.0039	0.0059	0.0057	0.0016	0.0088	0.0052	0.0121	0	0.0005	0.0068	0.0064	0.0057	0.0004	0.005	0.63226	D	0.032	0.53426	D	0.798	0.44840	P	0.173	0.35463	B	0.003113	0.35419	N	0.235061	0.85526	0.38633	D	2.07	0.56829	M	-3.11	0.92721	D	-2.94	0.61435	D	0.499	0.53445	0.432	0.89566	D	0.626	0.86846	D	10	0.010098875	0.00226	T	0.187201	0.85924	D	0.440	0.74377	.	.	0.705268275649	0.70270	0.25544587263230817	0.25458	0.477577091457	0.46870	0.379588216543	0.22199	T	0.265597	0.86471	T	-0.291825	0.09455	T	-0.187117	0.55861	T	0.0249095812512221	0.01261	T	0.960204	0.88252	D	0.47223198	0.65427	0.26433262	0.52251	0.47223198	0.65428	0.26433262	0.52250	-7.162	0.55208	T	.	.	0.105	0.19114	B	.;.;.	.;.;.	4.540858	0.71374	25.7	0.99904668835716104	0.97576	0.62386	0.31766	D	AEFDBCI	0.361771	0.45127	N	0.232212449699079	0.52766	3.448751	0.260344191376282	0.53239	3.493936	0.999974361142931	0.50053	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	4.74	4.74	0.59717	3.386000	0.52232	8.660000	0.77968	0.614000	0.49286	0.995000	0.38783	1.000000	0.68203	0.902000	0.43815	0.1827:0.0:0.8173:0.0	8.511	0.32376	946	0.12043	MyTH4 domain|MyTH4 domain|MyTH4 domain;MyTH4 domain|MyTH4 domain|MyTH4 domain;MyTH4 domain|MyTH4 domain|MyTH4 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1804.11	38	chr2	127632260	.	G	A	1804.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.71;DP=809;ExcessHet=0.1072;FS=2.367;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.09;ReadPosRankSum=1.29;SOR=0.481	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1219	19	0	2	0
chr2	127701755	127701755	G	T	exonic	SFT2D3	.	nonsynonymous SNV	SFT2D3:NM_032740:exon1:c.G227T:p.R76L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.93	P	0.415	B	0.000	U	1.000	D	2.465	M	-0.28	T	-0.527	T	0.281	T	0.564	5.095	31	2.12	0.436	2.240	9.570	0.409	0.843224274377	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs752590388	0.0002	0.0002	0.0002	0.0002	0.0090	0.0002	0.0002	0.0081	0.0077	0	0	0	0.0090	0	0.0003	0	9.69e-05	0.0001	0.0002	0.0002	0.0001	0.0002	0.0052	0.0001	0.0001	0.0037	0.0032	0	0	0	0	0.0052	0	0	0	0	0	0.002	0.72154	D	0.0	0.92824	D	0.93	0.51791	P	0.415	0.44933	B	0.000006	0.62929	U	0.000000	1	0.81001	D	2.215	0.62545	M	-0.28	0.67543	T	-6.52	0.91695	D	0.491	0.52475	-0.5271	0.67651	T	0.281	0.65289	T	10	0.28014866	0.45590	T	0.843224	0.98789	D	0.409	0.72099	0.843	0.94784	0.846154656725	0.84467	0.8426694428704917	0.84227	.	.	0.844156622887	0.88727	D	0.448892	0.79060	T	-0.183478	0.23220	T	-0.03685	0.67913	D	0.288045084223588	0.24508	T	0.556144	0.19298	T	0.7956297	0.83628	0.7569585	0.85638	0.7956297	0.83630	0.7569585	0.85639	-7.466	0.57371	T	.	.	0.174	0.38208	B	.	.	3.915446	0.57123	23.8	0.99657821615264608	0.77757	0.69407	0.34175	D	ALL	0.272253	0.38793	N	0.208173978622232	0.51594	3.339449	0.147567423561131	0.47012	2.938055	0.999999999999756	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	3.93	2.12	0.26372	1.895000	0.39411	2.011000	0.30165	0.484000	0.22197	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.1768:0.0:0.8232:0.0	9.570	0.38589	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	943.98	29	chr2	127701755	.	G	T	943.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=738;ExcessHet=0.0000;FS=3.838;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.28;ReadPosRankSum=0.843;SOR=0.323	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1001	20	0	1	0
chr2	127702037	127702037	T	C	exonic	SFT2D3	.	nonsynonymous SNV	SFT2D3:NM_032740:exon1:c.T509C:p.V170A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.0	B	0.002	B	0.041	N	1.000	N	-0.165	N	0.82	T	-1.034	T	0.049	T	0.098	2.053	12.82	-1.37	-0.409	0.764	8.293	0.047	0.177002340601	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1489189643	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.647	0.04897	T	0.745	0.04895	T	0.0	0.02946	B	0.002	0.06944	B	0.040624	0.24037	N	0.352028	1	0.81001	D	-0.265	0.03777	N	0.82	0.48142	T	-0.8	0.22078	N	0.05	0.02179	-1.0344	0.19046	T	0.049	0.20789	T	10	0.08438343	0.14138	T	0.177002	0.85259	D	0.047	0.12962	0.685	0.82271	0.429552544315	0.42571	0.31859135372381026	0.31772	.	.	0.92147809267	0.98435	D	0.004095	0.03502	T	-0.264416	0.12387	T	-0.617592	0.11374	T	0.0352564996565316	0.02851	T	0.515049	0.16594	T	0.044627484	0.07166	0.05751836	0.10469	0.044627484	0.07166	0.05751836	0.10469	-2.386	0.05047	T	.	.	0.069	0.02960	B	.	.	2.053704	0.26112	17.00	0.820684231363912	0.14002	0.04116	0.09590	N	ALL	0.024546	0.01538	N	-1.13455292677325	0.06038	0.2768925	-1.06211893019878	0.08456	0.415861	0.999999999999731	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	3.47	-1.37	0.08582	0.380000	0.20331	-0.012000	0.13046	0.439000	0.21057	0.996000	0.39380	0.008000	0.19753	0.856000	0.40543	0.0:0.4306:0.0:0.5694	8.293	0.31132	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	307.01	5	chr2	127702037	.	T	C	307.01	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.598e+00;DP=291;ExcessHet=0.0000;FS=2.933;InbreedingCoeff=-0.0266;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.19;ReadPosRankSum=-8.080e-01;SOR=0.132	GT:AD:DP:GQ:PL	0/0:14,0:14:42:0,42,510	20	0	1	0
chr2	127764615	127764615	T	C	exonic	WDR33	.	nonsynonymous SNV	WDR33:NM_001006622:exon6:c.A839G:p.Y280C,	.	.	436	1055	29	2	0	33	0.015399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.993	D	.	.	1.000	N	.	.	1.06	T	-0.629	T	0.205	T	0.354	2.869	15.56	5.7	2.179	3.930	14.549	0.098	.	0.0051	0.00299521	0.0065	0.0015	0.0140	0	0.0017	0.0102	0.0037	0.0045	0.0031047	480	154602	rs62621432	0.0066	0.0065	0.0066	0.0066	0.0149	0.0065	0.0065	0.0124	0.0114	0.0015	0.0059	0.0047	0	0.0022	0.0149	0.0074	0.0063	0.0039	0.0051	0.0051	0.0054	0.0047	0.0076	0.0048	0.0047	0.0071	0.0069	0.0012	0	0.0076	0.0087	0	0.0011	0.0238	0.0076	0.0076	0.0046	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	.	.	.	.	1	0.81001	D	.	.	.	1.06	0.39781	T	-1.38	0.34198	N	0.599	0.61764	-0.6292	0.63605	T	0.205	0.56293	T	8	0.00841099	0.00191	T	.	.	.	0.098	0.28162	.	.	0.165150595986	0.16160	.	.	.	.	.	.	.	.	.	.	-0.391012	0.02650	T	-0.328747	0.41609	T	0.0715279357274032	0.08864	T	0.450355	0.12714	T	.	.	.	.	.	.	.	.	-3.362	0.14550	T	.	.	0.108	0.20469	B	.	.	2.362505	0.30306	18.40	0.99746070043336688	0.83852	0.94541	0.61500	D	AEFBI	0.626769	0.60947	D	0.636090970056344	0.75470	6.311802	0.640669472655033	0.77917	6.772694	0.999993581770831	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.7	5.7	0.88690	3.203000	0.50777	2.942000	0.35671	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	14.549	0.67639	912	0.21483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1517.98	38	chr2	127764615	.	T	C	1517.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.19;DP=844;ExcessHet=0.0000;FS=3.910;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.92;ReadPosRankSum=0.067;SOR=0.629	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	20	0	1	0
chr2	128268395	128268395	G	A	exonic	HS6ST1	.	nonsynonymous SNV	HS6ST1:NM_004807:exon2:c.C1003T:p.R335W,	.	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	D	0.765	P	0.000	D	1.000	D	1.955	M	-0.98	T	-0.176	T	0.435	T	0.453	4.010	20.6	3.52	2.203	4.312	13.458	0.482	0.185943923533	0.0002	0.000199681	0.0001	0.0001	0	0.0003	0.0002	6.053e-05	0.0011	0.0001	8.41e-05	13	154602	rs373944145	7.528e-05	7.524e-05	8.171e-05	6.878e-05	0.0002	6.384e-05	5.941e-05	6.785e-05	6.284e-05	2.988e-05	2.237e-05	3.827e-05	7.557e-05	9.421e-05	0.0002	8.185e-05	4.969e-05	4.638e-05	4.595e-05	4.593e-05	6.423e-05	2.685e-05	4.811e-05	2.107e-05	1.526e-05	1.171e-05	6.25e-06	4.811e-05	0	0	0	0	0.0002	0	4.409e-05	0	0	0.031	0.45039	D	0.005	0.72224	D	0.997	0.70673	D	0.765	0.56630	P	0.000003	0.62929	D	0.061138	0.999901	0.50806	D	1.3	0.32576	L	-0.98	0.75789	T	-3.94	0.73378	D	0.388	0.42931	-0.1762	0.78276	T	0.435	0.77529	T	9	0.33984923	0.51064	T	0.185944	0.85844	D	0.482	0.77206	.	.	0.670052482717	0.66726	0.7258059656286547	0.72524	.	.	0.400226473808	0.25100	T	0.738386	0.92733	D	-0.1243	0.32423	T	-0.190623	0.55531	T	0.495518565177917	0.32466	T	0.876112	0.58827	D	0.3309961	0.55552	0.26186198	0.51970	0.3309961	0.55552	0.26186198	0.51969	-11.047	0.79915	D	0.21201775948534224	0.28439	0.123	0.25656	B	.	.	4.808738	0.78206	26.9	0.99890164696914774	0.96436	0.94260	0.60603	D	AEFGBI	0.797996	0.72467	D	0.473465521976047	0.65546	4.836101	0.446896946989069	0.64516	4.70877	0.997658021259632	0.35867	0.706298	0.61202	0	0.709663	0.81188	0	0.493711	0.08198	1	0.714379	0.83352	0	.	.	4.48	3.52	0.39415	4.523000	0.60261	7.429000	0.58777	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8428:0.1572	13.458	0.60660	411	0.82069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2974.98	34	chr2	128268395	.	G	A	2974.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=941;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.47;MQRankSum=2.01;QD=12.34;ReadPosRankSum=-5.740e-01;SOR=0.722	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,117,1755	20	0	1	0
chr2	130074453	130074453	G	C	exonic	POTEF	.	nonsynonymous SNV	POTEF:NM_001099771:exon17:c.C3019G:p.P1007A,	.	.	34	1483	5	0	0	5	0.00168294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.005	B	0.032	B	.	.	1.000	D	2.7	M	2.89	T	-1.107	T	0.037	T	0.294	2.313	13.69	.	0.119	6.566	5.905	0.171	0.00203542973611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.448e-06	1.37e-06	0	2.91e-06	0.0003	2.4e-07	9e-08	.	.	0	0	0	0	0	0.0003	0	1.735e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.06	0.45744	T	0.005	0.12996	B	0.032	0.22131	B	.	.	.	.	0.973106	0.25565	N	2.795	0.81503	M	2.89	0.10196	T	-4.06	0.74582	D	0.35	0.39153	-1.1065	0.03388	T	0.037	0.16073	T	8	0.51089275	0.62090	D	0.002035	0.03695	T	0.171	0.43483	0.758	0.88730	0.0401082797425	0.02173	0.007426498549510711	0.00708	.	.	0.576277017593	0.49561	T	0.606106	0.87447	D	-0.154052	0.27680	T	-0.459061	0.26703	T	0.847961485385895	0.49991	D	0.976502	0.91818	D	0.11898202	0.28022	0.15261135	0.35899	0.11898202	0.28022	0.15261135	0.35898	-8.519	0.64555	D	.	.	0.165	0.36335	B	.	.	2.179355	0.27780	17.58	0.95992124535403633	0.28391	0.69583	0.34245	D	AEFI	0.299721	0.40870	N	-0.539066370539018	0.20828	1.100889	-0.677058283015964	0.17535	0.9328214	9.32829367166945E-4	0.08027	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	6.893000	0.75468	.	.	0.189000	0.17846	1.000000	0.71638	1.000000	0.68203	0.203000	0.21983	8.0E-4:0.0:0.9992:0.0	5.905	0.18235	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	105.98	27	chr2	130074453	.	G	C	105.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.984e+00;DP=488;ExcessHet=0.0000;FS=22.368;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=24.00;MQRankSum=0.00;QD=3.93;ReadPosRankSum=-8.030e-01;SOR=4.164	GT:AD:DP:GQ:PL	0/0:25,0:25:72:0,72,1024	20	0	1	0
chr2	130075518	130075518	G	A	exonic	POTEF	.	nonsynonymous SNV	POTEF:NM_001099771:exon17:c.C1954T:p.R652W,	.	.	165	1342	15	0	0	15	0.00555761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.749	P	0.012	B	.	.	1.000	D	1.15	L	2.41	T	-1.017	T	0.022	T	0.226	1.202	9.883	0.993	0.847	0.114	7.879	0.058	0.00186476860802	.	.	6.397e-05	0.0005	0	0	0	5.007e-05	0	0	0.0003074	8	26028	rs764880739	0.0010	0.0015	0.0009	0.0010	0.0101	0.0009	0.0009	0.0076	0.0068	0.0016	0.0012	0.0057	0	0.0004	0.0101	0.0008	0.0021	0.0012	0.0020	0.0032	0.0021	0.0019	0.0024	0.0018	0.0017	0.0018	0.0016	0.0019	0	0.0024	0.0079	0	0.0003	0.0208	0.0020	0.0029	0.0019	0.001	0.78490	D	0.001	0.83351	D	0.749	0.43231	P	0.012	0.16012	B	.	.	.	.	1	0.81001	D	0.55	0.14455	N	2.41	0.15492	T	-0.5	0.15782	N	0.19	0.20793	-1.0173	0.24592	T	0.022	0.09330	T	9	0.008178771	0.00185	T	0.001865	0.03245	T	0.058	0.16647	.	.	0.0884992946249	0.08302	0.010486091902430678	0.01009	.	.	0.540157735348	0.44467	T	0.014928	0.12614	T	-0.26333	0.12513	T	-0.616032	0.11501	T	0.011539517315871	0.00174	T	0.0821918	0.00603	T	0.08255812	0.19025	0.10208182	0.24457	0.08255812	0.19025	0.10208182	0.24456	-8.197	0.62405	D	.	.	0.166	0.36554	B	.	.	1.733706	0.22065	15.47	0.92977504634594244	0.22558	0.03356	0.08446	N	AEFI	0.064876	0.12623	N	-0.743732100910856	0.14804	0.7405815	-0.904782868059291	0.11981	0.6136775	2.45300917979074E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.993	0.993	0.18943	-0.606000	0.05750	.	.	0.309000	0.19094	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.0:1.0:0.0	7.879	0.28773	982	0.03397	CCDC144C-like, coiled-coil domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	36.99	123	chr2	130075518	.	G	A	36.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=1767;ExcessHet=0.0000;FS=4.593;InbreedingCoeff=-0.0252;MLEAC=1;MLEAF=0.024;MQ=46.02;MQRankSum=-4.954e+00;QD=0.29;ReadPosRankSum=-2.791e+00;SOR=1.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:113,0:113:99:.:.:0,120,1800	20	0	1	0
chr2	130077197	130077197	C	T	exonic	POTEF	.	nonsynonymous SNV	POTEF:NM_001099771:exon16:c.G1783A:p.E595K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.976	D	0.651	P	.	.	1.000	N	0.805	L	-1.91	D	-0.569	T	0.425	T	0.1	0.740	7.927	0.052	0.005	-0.033	3.511	0.254	.	.	.	0.0048	0.0357	0	0	.	0	0	0	0.0005379	14	26028	rs755767576	0.0022	0.0022	0.0022	0.0023	0.0209	0.0021	0.0021	0.0165	0.0149	0.0135	0.0033	0.0093	0.0008	0.0009	0.0209	0.0018	0.0041	0.0018	0.0067	0.0077	0.0069	0.0065	0.0159	0.0064	0.0062	0.0149	0.0145	0.0159	0	0.0054	0.0103	0	0.0009	0.0276	0.0032	0.0049	0.0035	0.055	0.38407	T	0.0	0.92824	D	0.976	0.58310	D	0.651	0.52497	P	.	.	.	.	1	0.08975	N	2.375	0.68372	M	-1.91	0.84701	D	-0.17	0.09627	N	0.107	0.09207	-0.5686	0.66071	T	0.425	0.76916	T	9	0.0050650835	0.00109	T	.	.	.	0.254	0.56428	0.116	0.02439	0.159798565429	0.15598	0.028376717554403092	0.02787	.	.	0.750440120697	0.74511	T	0.015427	0.12940	T	-0.139085	0.30036	T	-0.437562	0.29082	T	0.0155505372168361	0.00353	T	0.60264	0.22576	T	0.048330206	0.08406	0.06266108	0.12295	0.048330206	0.08406	0.06266108	0.12294	-3.449	0.15725	T	.	.	0.082	0.08851	B	.	.	1.079197	0.14619	11.18	0.89374406225319802	0.18742	0.00405	0.02019	N	AEFI	0.027484	0.02252	N	-0.921945780352676	0.10329	0.4931033	-1.15824607067916	0.06621	0.3193104	1.09586772272045E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.987	0.052	0.13614	-0.103000	0.10909	.	.	-1.070000	0.01595	0.000000	0.06391	0.755000	0.26580	0.024000	0.12247	0.0:0.7144:0.0:0.2856	3.511	0.07267	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	60.19	15	chr2	130077197	.	C	T	60.19	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.29;DP=232;ExcessHet=0.1072;FS=3.859;InbreedingCoeff=-0.0531;MLEAC=2;MLEAF=0.048;MQ=25.62;MQRankSum=-2.590e-01;QD=2.74;ReadPosRankSum=0.086;SOR=0.083	GT:AD:DP:GQ:PL	0/0:16,0:16:48:0,48,589	19	0	2	0
chr2	130115242	130115242	T	C	exonic	POTEF	.	nonsynonymous SNV	POTEF:NM_001099771:exon4:c.A608G:p.D203G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.991	D	0.945	D	0.000	D	0.993	D	2.57	M	0.23	T	0.202	D	0.662	D	0.381	1.968	12.54	1.13	0.780	3.826	4.529	0.258	0.00923769273698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.59928	D	0.0	0.92824	D	0.991	0.64070	D	0.945	0.68163	D	0.000117	0.50451	D	0.000000	0.992803	0.41748	D	2.135	0.59519	M	0.23	0.85393	T	-1.51	0.86988	N	0.667	0.74371	0.202	0.85940	D	0.662	0.88246	D	10	0.6725204	0.70797	D	0.009238	0.24272	T	0.258	0.56959	0.601	0.73226	0.269558022972	0.26553	0.25822168627804276	0.25736	.	.	0.88701915741	0.94884	D	0.007383	0.06790	T	0.054995	0.58982	T	-0.15878	0.58461	T	0.707982897758484	0.41102	D	0.815918	0.78488	T	0.12013627	0.28275	0.096309125	0.22879	0.12013627	0.28275	0.096309125	0.22879	-11.6	0.82848	D	.	.	0.799	0.77227	P	.;.	.;.	2.818665	0.37125	20.4	0.99166154888982294	0.54241	0.70574	0.34647	D	AEFDI	0.161082	0.28709	N	0.020257481258202	0.42777	2.583858	-0.24790922719135	0.29844	1.675333	7.2088409215156E-5	0.04552	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.525792	0.08840	0	.	.	1.13	1.13	0.19758	4.844000	0.62544	.	.	0.309000	0.19094	1.000000	0.71638	1.000000	0.68203	0.001000	0.02609	0.0:0.0:0.0:1.0	4.529	0.11400	982	0.03397	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2986.98	121	chr2	130115242	.	T	C	2986.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.060;DP=1949;ExcessHet=0.0000;FS=3.285;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=41.09;MQRankSum=1.16;QD=10.74;ReadPosRankSum=-4.480e-01;SOR=0.907	GT:AD:DP:GQ:PL	0/0:156,0:156:99:0,120,1800	20	0	1	0
chr2	130120158	130120268	AAGCGCCCACCTTGCTCTTGCTGCTCCCCCTGCAGCAGGGGAAGCAGTGGCAGCACCACTTGCCCATCTTGTTCCTGAGTGTCTTCATAGCAGAGTCGTCGTGGTCTCCAG	-	exonic	POTEF	.	nonframeshift deletion	POTEF:NM_001099771:exon3:c.248_358del:p.S83_A119del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.686e-06	6.575e-06	0	1.37e-05	1.477e-05	0	0	.	.	0	0	0	0	0	0	0	1.477e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1768.94	75	chr2	130120157	.	CAAGCGCCCACCTTGCTCTTGCTGCTCCCCCTGCAGCAGGGGAAGCAGTGGCAGCACCACTTGCCCATCTTGTTCCTGAGTGTCTTCATAGCAGAGTCGTCGTGGTCTCCAG	C	1768.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.380e+00;DP=1584;ExcessHet=0.0000;FS=11.964;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=52.73;MQRankSum=-1.306e+01;QD=4.41;ReadPosRankSum=2.46;SOR=1.552	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:91,0:91:99:.:.:0,120,1800	20	0	1	0
chr2	130120179	130120179	T	0	exonic	POTEF	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	88519.64	228	chr2	130120179	.	T	C,*	88519.64	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=-4.490e-01;DP=4771;ExcessHet=0.1361;FS=7.097;InbreedingCoeff=0.2741;MLEAC=26,1;MLEAF=0.619,0.024;MQ=44.81;MQRankSum=-1.564e+01;QD=20.24;ReadPosRankSum=1.33;SOR=1.210	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:205,148,0:353:99:.:.:3393,0,5201,4007,5645,9652	4	10	6	0
chr2	130120485	130120485	C	G	exonic	POTEF	.	nonsynonymous SNV	POTEF:NM_001099771:exon3:c.G31C:p.A11P,	.	.	429	1054	39	0	0	39	0.0181649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.909	P	0.665	P	.	.	1.000	N	0.895	L	1.07	T	-0.634	T	0.381	T	0.369	1.105	9.510	.	0.149	0.485	.	0.156	.	0.0019	0.00798722	0.0046	0.0196	0.0025	0	0.0023	0.0041	0.0102	0.0028	0.0029584	77	26028	rs201109823	0.0032	0.0032	0.0031	0.0033	0.0315	0.0031	0.0031	0.0277	0.0262	0.0182	0.0033	0.0122	0	0.0014	0.0315	0.0025	0.0054	0.0030	0.0080	0.0080	0.0082	0.0077	0.0182	0.0076	0.0074	0.0171	0.0167	0.0182	0	0.0069	0.0136	0	0.0009	0.0340	0.0037	0.0071	0.0043	0.0	0.91255	D	0.002	0.79402	D	0.909	0.50183	P	0.665	0.52961	P	.	.	.	.	1	0.08975	N	1.7	0.43825	L	-1.51	0.81399	D	-0.65	0.32791	N	0.219	0.31027	-0.6341	0.63397	T	0.381	0.73766	T	7	0.005183339	0.00113	T	.	.	.	0.156	0.40720	.	.	0.101711395817	0.09552	0.022986211366154648	0.02250	.	.	0.474681586027	0.35325	T	0.017655	0.14364	T	-0.322528	0.06693	T	-0.221786	0.52566	T	0.0378075159640915	0.03297	T	0.750425	0.37862	T	0.23493005	0.46320	0.39268032	0.64006	0.23493005	0.46320	0.39268032	0.64006	-3.384	0.14842	T	.	.	0.161	0.35477	B	.;.	.;.	1.710486	0.21783	15.35	0.99195711931916741	0.55112	0.00378	0.01916	N	AEFI	0.057807	0.10798	N	-0.668355262314807	0.16926	0.8667242	-0.938220174050629	0.11197	0.5689714	1.10476958756432E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	0.899000	0.28049	.	.	0.268000	0.18485	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	.	.	.	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3866.11	43	chr2	130120485	.	C	G	3866.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.510e+00;DP=1118;ExcessHet=0.1072;FS=0.864;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=41.66;MQRankSum=-3.015e+00;QD=11.11;ReadPosRankSum=1.17;SOR=0.768	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	19	0	2	0
chr2	130142226	130142226	G	A	exonic	CCDC74B	.	nonsynonymous SNV	CCDC74B:NM_207310:exon3:c.C451T:p.R151C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.931	P	0.129	B	.	.	1.000	N	0.695	N	1.62	T	-1.061	T	0.027	T	0.387	2.320	13.71	-5.33	-1.871	-1.098	0.859	0.002	0.000781837765882	.	.	1.627e-05	0	0	0	0	2.814e-05	0	0	3.84e-05	1	26028	rs767858668	5.736e-06	1.163e-05	4.255e-06	7.25e-06	9.843e-05	2.47e-06	1.78e-06	2.607e-05	1.422e-05	9.843e-05	0	0.0001	2.72e-05	0	0	9.276e-07	0	0	1.982e-05	3.286e-05	1.29e-05	2.706e-05	4.851e-05	5.27e-06	2.46e-06	8.04e-06	3.01e-06	4.851e-05	0	0	0.0003	0	0	0	0	0	0	0.061	0.37118	T	0.002	0.79402	D	0.931	0.51899	P	0.129	0.32841	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.62	0.28189	T	-1.17	0.29933	N	0.095	0.07535	-1.0614	0.11410	T	0.027	0.11485	T	9	0.08779967	0.15056	T	7.82E-4	0.00588	T	0.110	0.31079	.	.	0.298056030225	0.29408	0.14925698521263564	0.14847	1.91785441749	0.92971	.	.	.	0.004074	0.03483	T	-0.215395	0.18625	T	-0.547176	0.17597	T	0.0851354370875186	0.10630	T	0.641436	0.25361	T	0.03612434	0.04384	0.034596767	0.02555	0.03612434	0.04384	0.034596767	0.02555	-4.986	0.36687	T	.	.	0.086	0.13737	B	.;.	.;.	0.320738	0.06954	3.500	0.99200589903121272	0.55261	0.01520	0.05015	N	AEFBCI	0.093827	0.18980	N	-1.07761161426384	0.07058	0.3267327	-1.31638975533021	0.04218	0.1984944	0.00111702828578667	0.08239	0.615465	0.37627	0	0.633656	0.55848	0	0.667671	0.60360	0	0.613276	0.41899	0	.	.	2.66	-5.33	0.02503	-0.971000	0.03916	.	.	0.342000	0.19800	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.222:0.2929:0.309:0.1761	0.859	0.01113	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3758.98	183	chr2	130142226	.	G	A	3758.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.887e+00;DP=1133;ExcessHet=0.0000;FS=13.032;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=50.57;MQRankSum=9.97;QD=20.54;ReadPosRankSum=-3.210e-01;SOR=0.205	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,114,1473	20	0	1	0
chr2	130144935	130144935	C	G	exonic	CCDC74B	.	nonsynonymous SNV	CCDC74B:NM_001258307:exon1:c.G62C:p.R21P	.	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.933	D	.	.	0.771	D	1.61	L	1.69	T	-0.544	T	0.226	T	0.461	1.413	10.66	2.22	1.244	1.517	7.964	0.106	0.371359056531	.	.	4.877e-05	0	0.0002	0	0	4.228e-05	0	0	3.84e-05	1	26028	rs753149316	3.854e-05	3.762e-05	3.726e-05	3.985e-05	0.0005	3.006e-05	2.726e-05	0.0001	8.073e-05	0	0.0002	0	0	2.067e-05	0.0005	3.351e-05	7.098e-05	4.063e-05	3.958e-05	3.941e-05	1.289e-05	6.755e-05	0.0002	1.721e-05	1.133e-05	5.297e-05	2.838e-05	0	0	0.0002	0	0	0	0	2.948e-05	0.0005	0	0.015	0.91255	D	0.014	0.67890	D	0.998	0.73220	D	0.9	0.66815	P	.	.	.	.	0.771154	0.34153	D	1.04	0.26193	L	1.69	0.54347	T	-1.69	0.50502	N	0.39	0.53357	-0.5443	0.67001	T	0.226	0.59007	T	9	0.2609082	0.43544	T	0.371359	0.92754	D	0.106	0.30130	0.263	0.20788	0.70075097299	0.69816	0.13153166705836078	0.13078	3.14057088863	0.99419	0.856402039528	0.90576	D	0.002982	0.02381	T	-0.259713	0.12934	T	-0.304859	0.44210	T	0.214567938027719	0.21189	T	0.787021	0.46271	T	0.34994414	0.57063	0.33873007	0.59647	0.34994414	0.57063	0.33873007	0.59646	-3.557	0.17239	T	.	.	0.163	0.55555	B	.;.;.;.;.;.	.;.;.;.;.;.	3.639547	0.51593	23.1	0.98816302902805231	0.46704	0.29910	0.23945	N	AEFDGBHCI	0.174576	0.30171	N	0.0403720311377805	0.43701	2.657903	-0.12856029075901	0.34245	1.96763	0.944593774444021	0.27622	0.660085	0.49399	0	0.662677	0.63036	0	0.673471	0.61138	0	0.444512	0.06955	0	.	.	2.22	2.22	0.27116	1.489000	0.35170	.	.	0.304000	0.19002	0.966000	0.33990	0.080000	0.22369	0.002000	0.04165	0.0:1.0:0.0:0.0	7.964	0.29248	982	0.03397	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1346.98	33	chr2	130144935	.	C	G	1346.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=844;ExcessHet=0.0000;FS=9.144;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=51.70;MQRankSum=0.605;QD=19.81;ReadPosRankSum=-3.920e-01;SOR=0.132	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr2	130182444	130182444	C	A	exonic	MZT2B	.	nonsynonymous SNV	MZT2B:NM_001330282:exon1:c.C162A:p.D54E	.	.	401	1080	41	0	0	41	0.0186279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.026	B	0.034	B	0.000	D	1.000	N	0.83	L	1.77	T	-1.022	T	0.022	T	0.121	2.221	13.38	1.92	0.376	-0.872	4.197	0.069	.	0.0046	0.00638978	0.0085	0.0264	0.0135	0	0	0.0093	0.0325	0.0043	0.0022186	343	154602	rs201954757	0.0023	0.0023	0.0021	0.0024	0.0281	0.0022	0.0022	0.0241	0.0225	0.0120	0.0039	0.0131	0	0.0003	0.0281	0.0015	0.0049	0.0032	0.0056	0.0056	0.0055	0.0056	0.0120	0.0052	0.0051	0.0111	0.0107	0.0120	0	0.0051	0.0147	0	0.0008	0.0510	0.0023	0.0080	0.0044	0.465	0.32610	T	1.0	0.19188	T	0.026	0.19406	B	0.034	0.22546	B	0.000000	0.84330	D	0.050763	0.795725	0.81001	N	1.03	0.25572	L	1.76	0.25996	T	-0.14	0.15986	N	0.057	0.08366	-1.0225	0.22899	T	0.022	0.09513	T	10	0.0068504214	0.00156	T	.	.	.	0.069	0.20116	0.258	0.20002	0.043077524339	0.03247	0.10204147874139245	0.10134	1.82565083264	0.92004	0.887980341911	0.95006	D	0.006435	0.05862	T	-0.586747	0.00175	T	-0.60521	0.12378	T	0.00788897961060119	0.00093	T	0.654835	0.26514	T	0.08224583	0.18937	0.043059155	0.05272	0.08224583	0.18937	0.043059155	0.05272	-1.272	0.01357	T	.	.	0.292	0.55039	B	.;.;.	.;.;.	1.301855	0.17036	12.92	0.98697158533386087	0.44852	0.03534	0.08725	N	AEFDGBCIJ	0.450374	0.50480	N	-0.909412290411064	0.10621	0.5084253	-0.829948027886066	0.13770	0.7161658	0.999999999433808	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	3.75	1.92	0.24912	0.109000	0.15252	.	.	-0.384000	0.05376	0.994000	0.38300	0.000000	0.08366	0.155000	0.20479	0.0:0.5878:0.1916:0.2206	4.197	0.09906	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	699.98	33	chr2	130182444	.	C	A	699.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.406;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=0.957;QD=10.77;ReadPosRankSum=-1.567e+00;SOR=0.641	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1060	20	0	1	0
chr2	130190514	130190514	C	T	exonic	MZT2B	.	nonsynonymous SNV	MZT2B:NM_025029:exon3:c.C365T:p.A122V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.027	B	0.004	B	0.001	N	0.939	N	1.355	L	1.18	T	-1.040	T	0.049	T	0.431	1.165	9.743	1.56	0.845	0.012	5.119	0.019	.	0.0062	0.00479233	0.0072	0.0013	0.0098	0	0.0056	0.0105	0.0011	0.0007	0.0068046	1052	154602	rs71422855	0.0096	0.0096	0.0099	0.0094	0.0118	0.0095	0.0095	0.0112	0.0111	0.0016	0.0118	0.0028	2.519e-05	0.0054	0.0021	0.0113	0.0073	0.0009	0.0066	0.0066	0.0068	0.0064	0.0134	0.0063	0.0062	0.0119	0.0113	0.0020	0	0.0134	0.0012	0	0.0039	0	0.0095	0.0118	0.0006	0.086	0.32610	T	0.358	0.38891	T	0.027	0.19556	B	0.004	0.10090	B	0.000641	0.42656	N	0.193928	0.938784	0.26854	N	1.67	0.42885	L	1.18	0.40469	T	-1.05	0.27463	N	0.149	0.17691	-1.0400	0.17313	T	0.049	0.20711	T	10	0.008834392	0.00200	T	.	.	.	0.092	0.26621	.	.	0.0675242888579	0.06100	0.19178452858981054	0.19096	0.113003848232	0.12758	0.752900362015	0.74875	T	0.032771	0.22630	T	-0.477123	0.00769	T	-0.447099	0.28016	T	0.011410623123378	0.00170	T	0.570043	0.24237	T	0.02542247	0.01478	0.04821855	0.07116	0.02542247	0.01478	0.04821855	0.07115	-4.928	0.36049	T	.	.	0.092	0.15160	B	.;.;.	.;.;.	1.035539	0.14157	10.73	0.98886800414336573	0.47930	0.22856	0.21886	N	AEFDBHCI	0.229719	0.35320	N	-0.318191509234871	0.28457	1.569763	-0.388182060389018	0.25349	1.393453	0.0304415250533012	0.13944	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.59	1.56	0.22423	-0.051000	0.11840	.	.	-0.284000	0.06380	0.047000	0.21291	0.009000	0.19889	0.009000	0.08673	0.0:0.5283:0.3443:0.1274	5.119	0.14186	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1180.98	36	chr2	130190514	.	C	T	1180.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=928;ExcessHet=0.0000;FS=0.770;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=0.162;SOR=0.565	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,120,1800	20	0	1	0
chr2	130191938	130191938	C	T	exonic	TUBA3E	.	nonsynonymous SNV	TUBA3E:NM_207312:exon5:c.G1246A:p.G416R,	.	.	4	1465	51	2	0	55	0.0184255	.	.	2812331	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	U	1.000	D	2.585	M	-1.87	D	0.591	D	0.735	D	0.733	2.225	13.40	2.96	1.668	6.979	11.691	0.763	0.0211248534557	0.0042	0.00319489	0.0030	0.0062	0.0018	0	0.0006	0.0033	0.0088	0.0028	0.0027037	418	154602	rs138838108	0.0020	0.0020	0.0019	0.0022	0.0322	0.0020	0.0020	0.0285	0.0270	0.0050	0.0025	0.0130	0	0.0003	0.0322	0.0015	0.0040	0.0031	0.0037	0.0037	0.0035	0.0039	0.0057	0.0034	0.0033	0.0051	0.0049	0.0057	0	0.0045	0.0147	0	0.0008	0.0340	0.0022	0.0057	0.0046	.	.	.	0.028	0.54934	D	1.0	0.90584	D	1.0	0.97372	D	0.000150	0.49130	U	0.000000	0.99997	0.53665	D	3.865	0.95877	H	-1.87	0.84415	D	-5.23	0.83899	D	0.744	0.74371	0.591	0.91782	D	0.735	0.90923	D	10	0.025752872	0.00760	T	0.021125	0.43850	T	0.763	0.91962	0.483	0.56462	0.892998195933	0.89194	0.5362431455708786	0.53549	.	.	0.762208938599	0.76258	T	0.249186	0.61909	T	-0.0349682	0.46692	T	0.179606	0.81973	D	0.065163292935135	0.07955	T	0.964804	0.86967	D	0.7548745	0.81152	0.72202504	0.83585	0.7851371	0.82972	0.73509145	0.84344	-13.799	0.92385	D	.	.	0.147	0.32396	B	.	.	3.560391	0.50099	22.9	0.99438955315479338	0.64670	0.94101	0.60115	D	AEFBCI	0.899518	0.84400	D	0.585072249833533	0.72244	5.775051	0.450236725696977	0.64732	4.735255	0.990563525223506	0.32195	0.421363	0.06395	0	0.514364	0.08380	0	0.536957	0.11973	0	0.714379	0.83352	0	.	.	2.96	2.96	0.33383	7.189000	0.77281	.	.	0.505000	0.23025	1.000000	0.71638	0.984000	0.30665	0.046000	0.14843	0.0:1.0:0.0:0.0	11.691	0.50780	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2426.98	40	chr2	130191938	.	C	T	2426.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.10;DP=2826;ExcessHet=0.0000;FS=5.683;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.42;MQRankSum=7.78;QD=14.71;ReadPosRankSum=-1.614e+00;SOR=0.404	GT:AD:DP:GQ:PL	0/0:229,0:229:99:0,120,1800	20	0	1	0
chr2	130463544	130463544	C	T	exonic	POTEI	.	nonsynonymous SNV	POTEI:NM_001277406:exon15:c.G2500A:p.V834M	.	.	7	1512	3	0	0	3	0.00099108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	0.991	N	2.99	M	-3.5	D	0.431	D	0.856	D	0.133	2.931	15.77	.	0.119	3.623	5.905	0.377	0.00650932837476	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs754316812	3.783e-05	4.516e-05	4.334e-05	3.229e-05	0.0002	2.963e-05	2.654e-05	6.31e-05	4.804e-05	9.374e-05	6.72e-05	0	2.584e-05	0	0.0002	2.674e-05	0.0001	0.0001	4.333e-05	8.732e-05	6.605e-05	1.824e-05	0.0004	1.667e-05	1.02e-05	1.419e-05	6.93e-06	3.353e-05	0	0	0	0	0	0	5.347e-05	0	0.0004	0.0	0.91255	D	0.032	0.53426	D	.	.	.	.	.	.	.	.	.	.	0.991264	0.24058	N	2.79	0.81396	M	-3.5	0.94658	D	-2.19	0.49352	N	0.298	0.33687	0.431	0.89557	D	0.856	0.95204	D	6	0.43899703	0.57979	T	0.006509	0.17157	T	0.377	0.69527	0.643	0.78010	0.246215685461	0.24236	0.06628485004706802	0.06567	.	.	0.662874221802	0.61820	T	0.558825	0.85195	D	-0.0647407	0.42163	T	-0.149244	0.59311	T	0.497158176843822	0.32525	T	0.765223	0.39255	T	0.2806504	0.51111	0.33925715	0.59693	0.2806504	0.51111	0.33925715	0.59693	-7.784	0.59588	D	.	.	0.447	0.62073	A	.	.	2.358384	0.30245	18.38	0.99403442320313729	0.62934	0.36349	0.25513	N	AEFI	0.232614	0.35566	N	-0.235454104342717	0.31689	1.779364	-0.466040657822908	0.23095	1.257755	9.32829367166945E-4	0.08027	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	3.921000	0.56166	.	.	-1.133000	0.01453	1.000000	0.71638	0.501000	0.25205	0.051000	0.15275	0.0:0.9992:0.0:8.0E-4	5.905	0.18235	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	827.98	71	chr2	130463544	.	C	T	827.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=1736;ExcessHet=0.0000;FS=3.087;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=31.19;MQRankSum=0.125;QD=10.75;ReadPosRankSum=0.046;SOR=0.417	GT:AD:DP:GQ:PL	0/0:100,0:100:99:0,120,1800	20	0	1	0
chr2	130508806	130508806	G	A	exonic	POTEI	.	nonsynonymous SNV	POTEI:NM_001277406:exon1:c.C430T:p.H144Y	.	.	449	1061	12	0	0	12	0.00562324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	0.627	D	2.5	M	0.35	T	-0.474	T	0.235	T	0.545	2.124	13.06	1.3	1.031	2.445	6.050	0.217	.	.	0.00539137	0.0141	0.0022	0.0746	0	0.0220	0.0100	0.0040	0.0181	0.0021131	55	26028	rs200241661	0.0075	0.0076	0.0076	0.0075	0.0347	0.0074	0.0073	0.0333	0.0327	0.0017	0.0347	0.0047	0	0.0071	0.0050	0.0068	0.0071	0.0091	0.0038	0.0067	0.0032	0.0046	0.0184	0.0035	0.0033	0.0156	0.0146	0.0009	0	0.0184	0.0034	0	0.0041	0	0.0033	0.0012	0.0011	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.627456	0.32759	D	2.795	0.81503	M	0.35	0.58029	T	-1.17	0.29933	N	0.378	0.56317	-0.4742	0.69576	T	0.235	0.60173	T	7	0.004750341	0.00100	T	.	.	.	0.217	0.51112	.	.	0.0920862733494	0.08535	0.2063709322326568	0.20554	.	.	0.74140650034	0.73180	T	0.007348	0.06762	T	-0.00026701	0.51618	T	-0.23816	0.50977	T	0.0774815729908045	0.09662	T	0.858314	0.54891	D	0.2037661	0.42464	0.22745368	0.47756	0.2037661	0.42464	0.22745368	0.47755	-10.639	0.77642	D	.	.	0.691	0.72569	P	.;.;.	.;.;.	2.099426	0.26707	17.21	0.98683239045241578	0.44652	0.48153	0.28143	N	AEFI	0.050866	0.08931	N	-0.12382430985179	0.36356	2.100412	-0.274116011698966	0.28954	1.618401	2.69858729046069E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.3	1.3	0.20778	2.688000	0.46651	.	.	0.288000	0.18739	0.998000	0.41325	1.000000	0.68203	0.045000	0.14751	0.0:0.0:1.0:0.0	6.050	0.19005	976	0.04745	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	872.98	46	chr2	130508806	.	G	A	872.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.725e+00;DP=774;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=37.77;MQRankSum=1.20;QD=13.64;ReadPosRankSum=0.887;SOR=0.479	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,115,1800	20	0	1	0
chr2	130509017	130509017	C	G	exonic	POTEI	.	nonsynonymous SNV	POTEI:NM_001277406:exon1:c.G219C:p.R73S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	1.845	L	-1.27	T	-0.567	T	0.392	T	0.161	0.604	7.253	0.109	0.181	0.033	.	0.170	0.0078305631702	.	0.000199681	5.449e-05	0	0.0002	0	0	6.73e-05	0	0	5.17e-05	8	154602	rs565163372	4.636e-05	4.572e-05	4.468e-05	4.806e-05	0.0002	3.715e-05	3.381e-05	4.35e-05	3.978e-05	3.162e-05	0	0	0	0	0.0002	5.546e-05	7.081e-05	0	2.851e-05	4.107e-05	1.391e-05	4.385e-05	6.985e-05	9.66e-06	5.49e-06	5.26e-06	1.97e-06	2.622e-05	0	6.985e-05	0	0	0	0	3.171e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.935	0.51832	L	-1.27	0.79277	T	-0.83	0.22727	N	0.154	0.29544	-0.5666	0.66150	T	0.392	0.74604	T	6	0.04784739	0.04157	T	0.007831	0.20773	T	0.170	0.43303	0.268	0.21576	0.148003135375	0.14442	0.027062630361776367	0.02656	.	.	0.482457220554	0.36396	T	0.017405	0.14204	T	-0.203926	0.20240	T	-0.346686	0.39584	T	0.0406105547533618	0.03802	T	0.777622	0.41060	T	0.24995448	0.47993	0.19455664	0.43084	0.24995448	0.47993	0.19455664	0.43084	-9.231	0.69172	D	.	.	0.543	0.66506	A	.;.;.	.;.;.	1.442591	0.18626	13.84	0.94078087534524812	0.24226	0.00563	0.02562	N	AEFI	0.041189	0.06229	N	-0.684236656993075	0.16471	0.8394566	-0.941226752303721	0.11127	0.5649736	1.11275397622661E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.109	0.109	0.13884	0.023000	0.13424	.	.	0.179000	0.17797	0.014000	0.18986	0.000000	0.08366	0.003000	0.05239	.	.	.	976	0.04745	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3725.98	39	chr2	130509017	.	C	G	3725.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.360e-01;DP=2059;ExcessHet=0.0000;FS=1.280;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.91;MQRankSum=-3.550e-01;QD=10.86;ReadPosRankSum=-3.830e-01;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,105,1575	20	0	1	0
chr2	130509040	130509040	A	G	exonic	POTEI	.	nonsynonymous SNV	POTEI:NM_001277406:exon1:c.T196C:p.C66R	.	.	438	1014	22	0	48	70	0.0107317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	1.32	L	-0.97	T	-0.882	T	0.180	T	0.067	-3.575	0.001	-0.218	-2.770	-2.508	.	0.078	.	.	0.00798722	0.0003	0.0004	0	0	0	0.0006	0	0.0001	0.0015368	40	26028	rs28624496	0.0004	0.0039	0.0004	0.0004	0.0014	0.0004	0.0004	0.0006	0.0005	9.494e-05	0.0004	0.0016	0.0002	0	0.0014	0.0004	0.0008	0.0002	0.0003	0.0083	0.0002	0.0003	0.0009	0.0002	0.0002	0.0002	0.0002	0.0002	0	0.0002	0	0	0.0001	0	0.0004	0	0.0009	1.0	0.00964	T	0.895	0.03863	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.11	0.08516	N	-0.97	0.75670	T	-0.07	0.08033	N	0.04	0.03175	-0.8817	0.49625	T	0.180	0.52613	T	6	0.005124539	0.00111	T	.	.	.	0.078	0.22779	.	.	0.188950314367	0.18478	0.0529668963886371	0.05238	.	.	0.501408100128	0.39024	T	0.011428	0.10197	T	-0.42832	0.01517	T	-0.61636	0.11473	T	0.0247650453648866	0.01242	T	0.30147	0.06003	T	0.08477733	0.19637	0.17651471	0.40191	0.08477733	0.19636	0.17651471	0.40190	-6.193	0.47866	T	.	.	0.348	0.56462	A	.;.;.	.;.;.	-0.512607	0.01826	0.145	0.10100012595628233	0.00119	0.00006	0.00120	N	AEFI	0.011642	0.00107	N	-1.8558285140909	0.00423	0.01816932	-2.06035745378489	0.00227	0.01001295	2.42689208294814E-4	0.06141	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.109	-0.218	0.12495	-1.799000	0.01842	.	.	-2.355000	0.00307	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	976	0.04745	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	103.98	39	chr2	130509040	.	A	G	103.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=1754;ExcessHet=0.0000;FS=15.257;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.87;MQRankSum=-9.148e+00;QD=0.30;ReadPosRankSum=-6.071e+00;SOR=1.856	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,105,1575	20	0	1	0
chr2	130509085	130509085	C	T	exonic	POTEI	.	nonsynonymous SNV	POTEI:NM_001277406:exon1:c.G151A:p.D51N	.	.	445	1009	24	3	41	71	0.0146484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	1.04	L	-1.53	D	-0.645	T	0.345	T	0.083	1.625	11.39	0.109	0.181	-0.628	.	0.290	.	.	0.0103834	0.0117	0.0010	0.0038	0	0.0174	0.0127	0.0105	0.0223	0.0091461	1414	154602	rs199728291	0.0094	0.0095	0.0088	0.0100	0.0213	0.0093	0.0092	0.0205	0.0201	0.0015	0.0052	0.0092	2.58e-05	0.0186	0.0130	0.0088	0.0087	0.0213	0.0063	0.0074	0.0064	0.0062	0.0168	0.0059	0.0057	0.0124	0.0109	0.0011	0.0085	0.0030	0.0079	0	0.0101	0	0.0089	0.0068	0.0168	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.59	0.40313	L	-1.53	0.81559	D	-0.6	0.17834	N	0.079	0.05670	-0.6452	0.62922	T	0.345	0.71020	T	6	0.0054852962	0.00121	T	.	.	.	0.290	0.60924	.	.	.	.	0.015385206267924894	0.01494	.	.	0.529596567154	0.42977	T	0.017224	0.14089	T	-0.474484	0.00797	T	-0.453799	0.27277	T	0.0189065854438277	0.00600	T	0.633137	0.30512	T	0.09588268	0.22573	0.10490704	0.25207	0.09588268	0.22573	0.10490704	0.25207	-7.463	0.57350	T	.	.	0.146	0.32226	B	.;.;.	.;.;.	2.090964	0.26601	17.17	0.99476310930527512	0.66633	0.00157	0.00941	N	AEFI	0.023533	0.01325	N	-0.809320772658497	0.13072	0.6414241	-1.04269100009514	0.08860	0.4377232	1.11275397622661E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.109	0.109	0.13884	-0.044000	0.11977	.	.	-1.058000	0.01623	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	.	.	.	976	0.04745	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2929.98	39	chr2	130509085	.	C	T	2929.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.220e-01;DP=1484;ExcessHet=0.0000;FS=6.780;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.41;MQRankSum=-1.348e+00;QD=12.85;ReadPosRankSum=0.289;SOR=0.397	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1575	20	0	1	0
chr2	130621539	130621539	G	A	exonic	POTEJ	.	nonsynonymous SNV	POTEJ:NM_001277083:exon5:c.G880A:p.V294I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	0.065	N	-0.18	T	-0.986	T	0.105	T	0.143	0.782	8.126	-0.238	-0.120	-0.750	3.110	0.030	.	.	.	0.0044	0.0292	0.0017	0	0	0	0	0	3.84e-05	1	26028	rs755722598	0.0004	0.0006	0.0005	0.0004	0.0172	0.0004	0.0004	0.0161	0.0156	0.0172	0.0004	0	0	0	0	8.1e-06	0.0008	0	0.0039	0.0052	0.0040	0.0038	0.0137	0.0036	0.0035	0.0128	0.0124	0.0137	0	0.0008	0	0	0	0	4.413e-05	0.0048	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.59	0.15444	N	-0.18	0.65747	T	-0.18	0.09796	N	0.06	0.03175	-0.9860	0.33590	T	0.105	0.38366	T	7	0.0048311353	0.00103	T	.	.	.	0.030	0.07022	.	.	0.0884992946249	0.08302	0.047701045604350525	0.04713	.	.	.	.	.	0.015329	0.12882	T	-0.176956	0.24190	T	-0.491961	0.23186	T	0.0200937504063997	0.00710	T	0.59464	0.22023	T	0.087365285	0.20342	0.07073533	0.15064	0.087365285	0.20342	0.07073533	0.15064	-4.491	0.30770	T	.	.	0.111	0.21390	B	.	.	0.116716	0.05149	1.672	0.97199876232161309	0.32806	0.00276	0.01495	N	AEFI	0.023565	0.01332	N	-0.916889831478489	0.10448	0.49926	-1.10120874826737	0.07677	0.3743888	1.11738232398089E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.755	-0.238	0.12411	-0.433000	0.07017	.	.	0.314000	0.19222	0.004000	0.16614	0.000000	0.08366	0.004000	0.06068	0.3493:0.0:0.6507:0.0	3.110	0.05973	970	0.06235	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	172.98	38	chr2	130621539	.	G	A	172.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.236e+00;DP=836;ExcessHet=0.0000;FS=1.155;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=28.79;MQRankSum=-1.199e+00;QD=2.08;ReadPosRankSum=0.148;SOR=0.867	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr2	130657279	130657279	G	A	exonic	POTEJ	.	nonsynonymous SNV	POTEJ:NM_001277083:exon15:c.G2519A:p.R840H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	0.982	N	2.985	M	-3.57	D	0.452	D	0.861	D	0.152	1.668	11.54	0.736	0.132	6.561	6.920	0.332	0.00343446669036	.	.	0.0006	0	0	0	0	0.0004	0	0.0011	3.84e-05	1	26028	rs759119194	0.0001	0.0002	0.0001	0.0001	0.0004	0.0001	0.0001	0.0003	0.0002	0	0.0003	0	0.0004	0	0.0002	0.0001	0.0002	0.0002	0.0001	0.0002	5.406e-05	0.0002	0.0004	6.319e-05	5.127e-05	7.594e-05	3.514e-05	8.12e-05	0	6.795e-05	0	0.0002	0	0	0.0001	0.0005	0.0004	0.005	0.63226	D	0.057	0.46406	T	.	.	.	.	.	.	.	.	.	.	0.982429	0.24964	N	2.43	0.70455	M	-3.57	0.94904	D	-3.76	0.71276	D	0.301	0.34012	0.452	0.89867	D	0.861	0.95387	D	7	0.20084238	0.36146	T	0.003434	0.07725	T	0.332	0.65424	.	.	0.522182809586	0.51864	0.13714566336491427	0.13638	.	.	.	.	.	0.588267	0.86622	D	-0.172122	0.24915	T	-0.135587	0.60498	T	0.155782556167183	0.17554	T	0.746125	0.36682	T	0.12615234	0.29556	0.08978622	0.21016	0.12615234	0.29556	0.08978622	0.21015	-7.443	0.57208	T	.	.	0.105	0.19114	B	.	.	1.887185	0.23973	16.22	0.99502387920646362	0.68089	0.65867	0.32882	D	AEFI	0.489445	0.52734	N	-0.170767959699	0.34356	1.959945	-0.396850724001854	0.25090	1.377786	0.00202939160945885	0.09096	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.736	0.736	0.17456	6.898000	0.75496	.	.	0.218000	0.18051	1.000000	0.71638	0.998000	0.33993	0.015000	0.10482	1.0E-4:0.0:0.9999:0.0	6.920	0.23561	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	963.98	68	chr2	130657279	.	G	A	963.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.32;DP=1270;ExcessHet=0.0000;FS=1.138;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=29.40;MQRankSum=5.84;QD=16.91;ReadPosRankSum=0.574;SOR=0.498	GT:AD:DP:GQ:PL	0/0:69,0:69:99:0,114,1800	20	0	1	0
chr2	130657714	130657714	C	T	exonic	POTEJ	.	nonsynonymous SNV	POTEJ:NM_001277083:exon15:c.C2954T:p.P985L,	.	.	74	1431	17	0	0	17	0.00590483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	0.978	D	3.485	M	2.73	T	-1.005	T	0.099	T	0.209	1.406	10.63	0.736	0.132	5.282	6.920	0.181	.	.	0.00319489	0.0132	0.0015	0.0078	0	0.0020	0.0050	0.0408	0.0317	0.0007684	20	26028	rs552095587	0.0015	0.0015	0.0011	0.0019	0.0128	0.0015	0.0015	0.0121	0.0119	0.0003	0.0007	0.0063	2.632e-05	6.057e-05	0.0082	0.0006	0.0020	0.0128	0.0011	0.0011	0.0011	0.0011	0.0126	0.0009	0.0009	0.0097	0.0087	0.0005	0	0.0007	0.0068	0	0	0.0037	0.0007	0.0006	0.0126	0.0	0.91255	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	0.977524	0.39375	D	3.655	0.94224	H	2.73	0.11839	T	-8.19	0.96809	D	0.324	0.36464	-1.0053	0.28368	T	0.099	0.36882	T	7	0.012013733	0.00260	T	.	.	.	0.181	0.45247	.	.	0.462111473445	0.45839	0.02712786375202906	0.02662	.	.	.	.	.	0.598495	0.87097	D	-0.49592	0.00603	T	-0.472807	0.25214	T	0.0969079647454294	0.12013	T	0.974802	0.91047	D	0.36426046	0.58158	0.28347903	0.54341	0.36426046	0.58159	0.28347903	0.54340	-8.023	0.61227	D	.	.	0.379	0.58352	A	.	.	2.518707	0.32546	19.07	0.98912866454171977	0.48399	0.52235	0.29083	D	AEFI	.	.	.	-0.170624640995066	0.34360	1.960361	-0.423347139363444	0.24314	1.330746	0.00202939160945885	0.09096	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.736	0.736	0.17456	5.537000	0.66897	.	.	0.196000	0.17891	1.000000	0.71638	1.000000	0.68203	0.014000	0.10232	0.0:0.9999:0.0:1.0E-4	6.920	0.23561	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	354.01	17	chr2	130657714	.	C	T	354.01	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.546;DP=387;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0269;MLEAC=1;MLEAF=0.024;MQ=36.54;MQRankSum=0.901;QD=13.11;ReadPosRankSum=-4.690e-01;SOR=0.404	GT:AD:DP:GQ:PL	0/0:23,0:23:57:0,57,855	20	0	1	0
chr2	130729356	130729356	C	G	exonic	GPR148	.	nonsynonymous SNV	GPR148:NM_207364:exon1:c.C205G:p.L69V,	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.788	P	0.446	B	0.018	U	0.990	N	0.55	N	-1.07	T	-0.671	T	0.282	T	0.224	1.113	9.538	2.49	1.318	3.049	11.079	0.279	0.0170979976516	.	0.000599042	0.0004	0	0.0003	0	0	7.517e-05	0.0011	0.0026	0.0003493	54	154602	rs201807263	0.0002	0.0002	0.0002	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	5.974e-05	4.473e-05	0.0012	0	0	0.0002	5.399e-05	0.0003	0.0027	0.0002	0.0002	0.0001	0.0002	0.0039	0.0001	0.0001	0.0026	0.0021	0	0	0	0.0009	0.0002	0	0	7.353e-05	0	0.0039	0.025	0.47320	D	0.0	0.92824	D	0.788	0.44546	P	0.446	0.45959	B	0.018343	0.27503	U	0.146534	0.989706	0.24263	N	1.565	0.39561	L	-1.07	0.76948	T	-1.86	0.43524	N	0.163	0.17140	-0.6706	0.61801	T	0.282	0.65419	T	10	0.016502827	0.00348	T	0.017098	0.38659	T	0.279	0.59619	0.711	0.84691	0.72494033862	0.72250	0.3899548924257741	0.38910	0.39260264956	0.40439	0.28005284071	0.07499	T	0.046107	0.27325	T	-0.40596	0.02115	T	-0.360525	0.37991	T	0.0787005518080168	0.09820	T	0.417558	0.11011	T	0.14209041	0.32713	0.16439287	0.38084	0.14209041	0.32712	0.16439287	0.38084	-5.066	0.37548	T	.	.	0.104	0.18746	B	.	.	2.430852	0.31268	18.69	0.9924347410926192	0.56630	0.41512	0.26673	N	AEFDBCI	0.161376	0.28743	N	-0.0847361679059758	0.38062	2.223544	-0.116639516698874	0.34719	2.000313	0.507225612695438	0.20991	0.497415	0.19182	0	0.547309	0.14657	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	2.49	2.49	0.29274	2.017000	0.40600	.	.	0.524000	0.24156	0.984000	0.35821	0.991000	0.31484	0.616000	0.31793	0.0:1.0:0.0:0.0	11.079	0.47268	952	0.10565	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2439.98	37	chr2	130729356	.	C	G	2439.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.350e-01;DP=1145;ExcessHet=0.0000;FS=1.741;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=-7.590e-01;SOR=0.589	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1156	20	0	1	0
chr2	130729417	130729417	C	T	exonic	GPR148	.	nonsynonymous SNV	GPR148:NM_207364:exon1:c.C266T:p.P89L,	.	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.073	N	0.967	N	-0.55	N	1.86	T	-0.965	T	0.018	T	0.076	-0.766	0.771	1.91	-0.014	3.134	4.725	0.046	0.00184161130549	7.7e-05	0.000599042	0.0004	0	8.64e-05	0	0	8.998e-05	0.0011	0.0025	0.0003428	53	154602	rs199627473	0.0002	0.0002	0.0002	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	2.987e-05	0	0.0012	2.519e-05	0	0.0002	7.464e-05	0.0003	0.0027	0.0002	0.0002	0.0002	0.0003	0.0039	0.0002	0.0001	0.0026	0.0021	0	0	0.0001	0.0009	0.0004	0	0	0.0001	0	0.0039	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.073297	0.21356	N	0.299003	0.967346	0.25853	N	-2.34	0.00087	N	1.86	0.24285	T	2.9	0.00155	N	0.038	0.01203	-0.9653	0.38151	T	0.018	0.07282	T	10	0.0071891546	0.00163	T	0.001842	0.03193	T	0.046	0.12618	.	.	0.300449992093	0.29664	0.5026267421976692	0.50184	0.149566448302	0.16864	0.261172235012	0.05032	T	0.009403	0.08559	T	-0.649303	0.00073	T	-0.710071	0.05291	T	0.0342991085142591	0.02689	T	0.260974	0.04194	T	0.024364464	0.01261	0.0307706	0.01576	0.024364464	0.01261	0.0307706	0.01576	2.558	0.00031	T	.	.	0.044	0.00035	B	.	.	1.163565	0.15528	11.92	0.18464644169045846	0.00582	0.02022	0.06071	N	AEFDBCI	0.019671	0.00705	N	-1.0245513118804	0.08097	0.3784351	-0.851019229517145	0.13263	0.6870718	5.07921076695098E-4	0.07176	0.497415	0.19182	0	0.547309	0.14657	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	3.15	1.91	0.24841	3.640000	0.54086	.	.	-0.189000	0.09497	1.000000	0.71638	0.998000	0.33993	0.900000	0.43643	0.0:0.1146:0.1913:0.6942	4.725	0.12316	952	0.10565	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2444.98	37	chr2	130729417	.	C	T	2444.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.02;DP=1136;ExcessHet=0.0000;FS=3.317;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.80;ReadPosRankSum=0.410;SOR=0.495	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1156	20	0	1	0
chr2	130762402	130762402	G	T	exonic	AMER3	.	nonsynonymous SNV	AMER3:NM_001105193:exon2:c.G330T:p.Q110H	.	.	426	1093	2	1	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.99	D	0.923	D	0.616	N	1.000	N	0.895	L	2.18	T	-1.050	T	0.065	T	0.163	1.724	11.72	1.03	-0.029	-0.060	4.780	0.096	0.0031864154185	0.0002	0.000399361	0.0005	0.0001	0.0002	0	0	0.0002	0.0013	0.0024	0.0004398	68	154602	rs369083089	0.0004	0.0004	0.0003	0.0005	0.0023	0.0004	0.0004	0.0020	0.0019	0	0.0002	3.832e-05	0	3.845e-05	0.0004	0.0003	0.0002	0.0023	0.0002	0.0002	0.0002	0.0003	0.0021	0.0002	0.0001	0.0011	0.0009	4.808e-05	0	0.0005	0.0003	0	0	0	0.0002	0	0.0021	0.007	0.59928	D	0.062	0.51421	T	0.99	0.63424	D	0.923	0.65830	D	0.616255	0.10820	N	0.797581	0.999975	0.18612	N	0.895	0.22405	L	2.18	0.18875	T	-1.39	0.64132	N	0.111	0.09772	-1.0496	0.14509	T	0.065	0.26948	T	10	0.014009863	0.00295	T	0.003186	0.06966	T	0.096	0.27654	0.703	0.83962	0.32306181527	0.31918	0.18076110469365603	0.17995	0.0364879867005	0.03857	0.423495709896	0.28318	T	0.042857	0.39549	T	-0.54174	0.00327	T	-0.557116	0.16649	T	0.0494349070285999	0.05400	T	0.553945	0.19167	T	0.12171599	0.28617	0.13641785	0.32635	0.12171599	0.28617	0.13641785	0.32634	-3.544	0.17053	T	.	.	0.155	0.34294	B	.;.;.;.	.;.;.;.	1.479478	0.19046	14.06	0.99236389194525254	0.56405	0.14123	0.18235	N	AEFDBI	0.122917	0.23828	N	-0.306492231162555	0.28901	1.598023	-0.481528690701589	0.22663	1.232052	0.0978574383548307	0.16291	0.446893	0.09132	0	0.563428	0.19063	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.39	1.03	0.19161	0.048000	0.13962	.	.	0.676000	0.76740	0.549000	0.27338	0.430000	0.24851	0.120000	0.19168	0.3834:0.148:0.4686:0.0	4.780	0.12569	946	0.12043	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	845.98	33	chr2	130762402	.	G	T	845.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.183;DP=803;ExcessHet=0.0000;FS=0.927;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=1.89;SOR=0.931	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,101,1329	20	0	1	0
chr2	130763284	130763284	C	A	exonic	AMER3	.	nonsynonymous SNV	AMER3:NM_001105193:exon2:c.C1212A:p.S404R	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.959	D	0.000	D	0.993	N	0.895	L	2.06	T	-1.117	T	0.062	T	0.442	1.508	10.99	2.24	1.342	-0.459	3.854	0.105	0.00597241890129	.	.	8.298e-06	0	0	0	0	1.513e-05	0	0	6.5e-06	1	154602	rs754418807	8.211e-06	8.209e-06	2.723e-06	1.375e-05	0.0003	4.38e-06	3.46e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	3.597e-06	6.623e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.007	0.69154	D	0.997	0.70673	D	0.959	0.70163	D	0.000302	0.45977	D	0.137926	0.993225	0.23750	N	2.565	0.75005	M	2.06	0.20523	T	-2.59	0.55821	D	0.12	0.11054	-1.1170	0.02531	T	0.062	0.25815	T	10	0.2596112	0.43400	T	0.005972	0.15579	T	0.105	0.29889	0.341	0.33302	0.432379865206	0.42856	0.2955129728239927	0.29464	0.257231272302	0.28296	0.483561217785	0.36547	T	0.190375	0.54489	T	-0.136113	0.30510	T	-0.433294	0.29563	T	0.92137086391449	0.58099	D	0.716728	0.32905	T	0.37992024	0.59311	0.2973066	0.55764	0.37992024	0.59311	0.2973066	0.55763	-5.067	0.37558	T	.	.	0.446	0.62028	A	.;.	.;.	2.051735	0.26084	16.99	0.995839142962753	0.73159	0.14655	0.18517	N	AEFDBI	0.158787	0.28449	N	-0.185221701595359	0.33749	1.918278	-0.28691060153985	0.28529	1.59141	0.15415476085733	0.17489	0.516011	0.20929	0	0.610034	0.51514	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.2	2.24	0.27264	-0.369000	0.07588	.	.	-0.182000	0.10109	0.295000	0.25279	0.165000	0.23294	0.010000	0.09038	0.192:0.6107:0.0:0.1973	3.854	0.08477	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2544.98	39	chr2	130763284	.	C	A	2544.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.018e+00;DP=1049;ExcessHet=0.0000;FS=1.918;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.88;ReadPosRankSum=-7.300e-02;SOR=0.878	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr2	130914815	130914815	C	T	exonic	ARHGEF4	.	nonsynonymous SNV	ARHGEF4:NM_001367493:exon2:c.C869T:p.S290L,	.	.	433	1074	13	2	0	17	0.00785219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00359425	.	.	.	.	.	.	.	.	0.0014101	218	154602	rs116650837	0.0101	0.0093	0.0104	0.0099	0.0116	0.0100	0.0099	0.0114	0.0113	0.0016	0.0046	0.0013	5.711e-05	0.0054	0.0032	0.0116	0.0092	0.0042	0.0068	0.0067	0.0073	0.0062	0.0118	0.0064	0.0063	0.0112	0.0109	0.0017	0	0.0044	0.0009	0	0.0041	0	0.0118	0.0090	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0044852197	0.00092	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002307	0.01700	T	.	.	.	.	.	.	.	.	.	0.429357	0.11628	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.02765	B	.	.	-0.266321	0.02767	0.374	0.72902924776476974	0.10136	0.00040	0.00335	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999945399905462	0.47345	0.090766	0.02384	0	0.059962	0.00310	0	0.129117	0.03641	0	0.062806	0.01542	0	0.0810911	0.18602	4.58	-0.824	0.10266	0.124000	0.15557	.	.	-1.711000	0.00743	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4288:0.0:0.5712	7.741	0.28008	934	0.15400	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	376.98	34	chr2	130914815	.	C	T	376.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.757;DP=672;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=0.553;SOR=0.839	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1200	20	0	1	0
chr2	131046047	131046047	G	A	exonic	ARHGEF4	.	nonsynonymous SNV	ARHGEF4:NM_001375903:exon10:c.G1721A:p.R574Q	.	.	436	1076	10	0	0	10	0.00462535	.	.	3191776	ARHGEF4-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.37	T	0.999	D	0.848	P	0.000	D	1.000	D	0.895	L	1.32	T	-0.967	T	0.155	T	0.618	3.035	16.13	4.83	1.420	4.155	12.493	0.161	.	.	0.00479233	0.0018	0	8.655e-05	0	0	7.665e-05	0.0011	0.0128	0.0015524	240	154602	rs528934869	0.0008	0.0008	0.0005	0.0011	0.0116	0.0008	0.0007	0.0110	0.0107	5.978e-05	0	0	5.045e-05	0	0.0017	7.474e-05	0.0010	0.0116	0.0006	0.0006	0.0004	0.0008	0.0149	0.0005	0.0004	0.0122	0.0111	4.812e-05	0	6.533e-05	0	0	0	0	0.0001	0.0005	0.0149	0.154	0.44358	T	0.338	0.37589	T	0.999	0.77913	D	0.848	0.60574	P	0.000001	0.62929	D	0.053681	0.999714	0.81001	D	1.75	0.45442	L	1.32	0.47815	T	-0.99	0.26200	N	0.089	0.38335	-0.9670	0.37814	T	0.155	0.48585	T	10	0.006344646	0.00143	T	.	.	.	0.161	0.41658	.	.	0.855232234654	0.85383	0.39499465036624204	0.39414	0.23784296459	0.26331	0.306786000729	0.11421	T	0.01817	0.33316	T	-0.3605	0.04102	T	-0.280222	0.46781	T	0.0713917149893983	0.08845	T	0.864713	0.56210	D	0.116076715	0.27383	0.065911695	0.13428	0.116076715	0.27383	0.065911695	0.13427	-3.861	0.22632	T	.	.	0.090	0.23640	B	.;.;.;.;.;.	.;.;.;.;.;.	4.182598	0.62975	24.5	0.99658986777332981	0.77820	0.89590	0.50152	D	AEFDBCI	0.460313	0.51055	N	0.315934979267973	0.56967	3.862374	0.360278318778664	0.59129	4.08827	0.999999071813254	0.74766	0.634777	0.41761	0	0.572659	0.20510	0	0.643519	0.47002	0	0.645665	0.59343	0	.	.	5.71	4.83	0.61880	3.611000	0.53881	.	.	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.340000	0.25432	0.0812:0.0:0.9188:0.0	12.493	0.55251	917	0.20147	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	667.11	34	chr2	131046047	.	G	A	667.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.54;DP=711;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=0.831;SOR=0.559	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1102	19	0	2	0
chr2	131125798	131125798	C	T	exonic	PLEKHB2	.	nonsynonymous SNV	PLEKHB2:NM_001100623:exon3:c.C83T:p.S28L	.	.	.	.	.	.	.	.	.	.	.	3373195	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.38	T	1.0	D	0.998	D	0.004	U	1.000	D	0.94	L	-1.21	T	-0.353	T	0.440	T	0.39	1.385	10.56	4.05	1.213	5.240	11.354	0.389	0.144167140299	0.0002	0.000199681	4.943e-05	0	8.639e-05	0	0	7.493e-05	0	0	7.76e-05	12	154602	rs201430764	8.28e-05	8.345e-05	7.49e-05	9.078e-05	7.197e-05	7.071e-05	6.62e-05	5.886e-05	5.453e-05	2.988e-05	2.236e-05	0	0	0.0006	0	7.197e-05	0.0001	2.319e-05	0.0001	0.0001	0.0001	0.0001	0.0002	7.13e-05	5.779e-05	9.06e-05	7.021e-05	0	0	0	0	0	0.0006	0	0.0002	0	0	1.0	0.21968	T	1.0	0.51737	T	0.327	0.90584	B	0.018	0.70837	B	0.004016	0.34221	U	0.242201	0.999972	0.81001	D	1.385	0.34509	L	-1.21	0.78645	T	-1.17	0.32791	N	0.661	0.69474	-0.3526	0.73478	T	0.440	0.77846	T	10	0.35780597	0.52488	T	0.144167	0.82645	D	0.389	0.70521	.	.	0.857241831496	0.85586	0.36715917577935037	0.36629	0.961546008612	0.73030	0.703975141048	0.67719	T	0.030266	0.66134	T	-0.145155	0.29072	T	-0.197972	0.54839	T	0.156307184842706	0.17595	T	0.774523	0.48291	T	0.12595287	0.29512	0.0835982	0.19169	0.12595287	0.29512	0.0835982	0.19169	-7.541	0.60407	D	.	.	0.109	0.57610	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.978354	0.39716	21.0	0.96828406691932811	0.31255	0.95225	0.63902	D	AEFBI	0.581081	0.58124	D	-0.0157652198506623	0.41142	2.455657	0.0594853666958808	0.42531	2.574	0.997980798473197	0.36275	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.93	4.05	0.46415	5.369000	0.65892	.	.	-0.212000	0.08331	1.000000	0.71638	0.999000	0.35428	0.959000	0.51448	0.0:0.91:0.0:0.09	11.354	0.48846	872	0.31118	.;Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;.;.;.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1300.98	36	chr2	131125798	.	C	T	1300.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.900e-01;DP=897;ExcessHet=0.0000;FS=4.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.41;ReadPosRankSum=-1.136e+00;SOR=0.360	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	20	0	1	0
chr2	131146691	131146693	ACA	-	exonic	PLEKHB2	.	nonframeshift deletion	PLEKHB2:NM_001267067:exon6:c.457_459del:p.T155del	.	.	433	1088	0	1	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.592e-05	0	0	0	0	1.499e-05	0	0.0004	5.17e-05	8	154602	rs774578796	3.147e-05	3.147e-05	1.906e-05	4.401e-05	0.0004	2.412e-05	2.158e-05	0.0003	0.0003	0	2.236e-05	0	0	0	0	7.195e-06	1.656e-05	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3008.94	34	chr2	131146690	.	GACA	G	3008.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.261e+00;DP=839;ExcessHet=0.0000;FS=3.438;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=24.87;ReadPosRankSum=1.35;SOR=0.631	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1318	20	0	1	0
chr2	131252927	131252927	T	G	exonic	POTEE	.	nonsynonymous SNV	POTEE:NM_001083538:exon16:c.T1606G:p.F536V,	.	.	416	1071	35	0	0	35	0.0160772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.462	P	0.307	B	.	.	1.000	N	0	N	-1.08	T	-0.908	T	0.153	T	0.081	-0.076	3.629	-0.696	-0.835	0.688	.	0.124	.	0.0064	.	0.0161	0.0489	0.0163	0	0.0064	0.0126	0.0368	0.0107	0.0020828	322	154602	rs201546189	0.0023	0.0033	0.0021	0.0025	0.0228	0.0022	0.0022	0.0195	0.0182	0.0161	0.0028	0.0089	0	0.0011	0.0228	0.0017	0.0037	0.0023	0.0061	0.0084	0.0063	0.0059	0.0151	0.0058	0.0056	0.0141	0.0137	0.0151	0	0.0041	0.0099	0	0.0005	0.0241	0.0026	0.0043	0.0025	0.001	0.78490	D	0.087	0.40747	T	0.462	0.36386	P	0.307	0.41295	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-1.08	0.77078	T	-0.13	0.08971	N	0.3	0.33904	-0.9083	0.47061	T	0.153	0.48257	T	8	0.0038359165	0.00072	T	.	.	.	0.124	0.34239	.	.	0.191931220699	0.18833	0.003083568723920587	0.00287	.	.	0.595366954803	0.52251	T	0.015359	0.12902	T	-0.49042	0.00646	T	-0.461635	0.26420	T	0.0164105266737759	0.00408	T	0.253475	0.03884	T	0.11846394	0.27910	0.19530182	0.43200	0.11846394	0.27910	0.19530182	0.43199	-2.083	0.03512	T	.	.	0.089	0.12371	B	.	.	1.280274	0.16797	12.77	0.7072585159487782	0.09390	0.00468	0.02246	N	AEI	0.026109	0.01904	N	-1.10895542048966	0.06483	0.2985627	-1.27945934883257	0.04709	0.2227442	1.83194705707854E-6	0.01202	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	0.348	-0.696	0.10719	0.866000	0.27608	.	.	0.488000	0.22294	0.005000	0.17040	0.000000	0.08366	0.010000	0.09038	.	.	.	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2151.11	35	chr2	131252927	.	T	G	2151.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.376;DP=1341;ExcessHet=0.1072;FS=1.394;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=38.27;MQRankSum=0.243;QD=3.25;ReadPosRankSum=0.706;SOR=0.551	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1325	19	0	2	0
chr2	131252972	131252972	G	A	exonic	POTEE	.	nonsynonymous SNV	POTEE:NM_001083538:exon16:c.G1651A:p.G551R,	.	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.097	B	0.001	B	.	.	1.000	N	0.345	N	-1.95	D	-0.891	T	0.281	T	0.085	0.794	8.182	-0.867	-0.461	0.239	.	0.072	0.11707472319	.	.	7.841e-05	0	0	0.0002	0	0.0001	0	0	3.84e-05	1	26028	rs747324485	4.311e-05	4.857e-05	4.493e-05	4.126e-05	0.0002	3.443e-05	3.129e-05	3.545e-05	3.205e-05	2.992e-05	4.472e-05	0	2.519e-05	0	0.0002	4.587e-05	9.941e-05	1.16e-05	2.63e-05	3.937e-05	3.859e-05	1.345e-05	4.837e-05	8.15e-06	5.14e-06	8.02e-06	3e-06	4.837e-05	0	0	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.247	0.23914	T	0.097	0.25541	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.25	0.31749	L	-1.95	0.85003	D	-0.13	0.08971	N	0.132	0.12770	-0.8912	0.48828	T	0.281	0.65340	T	8	0.05398172	0.05677	T	0.117075	0.79675	D	0.072	0.21020	0.306	0.27646	0.180583059064	0.17676	0.0024340441124241913	0.00225	.	.	0.579795718193	0.50058	T	0.01587	0.13230	T	-0.157226	0.27188	T	-0.463621	0.26207	T	0.148939257046348	0.17018	T	0.60264	0.22576	T	0.12551932	0.29423	0.23179989	0.48322	0.12551932	0.29423	0.23179989	0.48321	-6.614	0.51160	T	.	.	0.214	0.44240	B	.;.	.;.	2.134828	0.27180	17.37	0.97082720155575575	0.32289	0.00383	0.01935	N	AEFI	0.031845	0.03484	N	-1.55527089243224	0.01504	0.06567041	-1.65484345530872	0.01351	0.06099101	1.37461070047066E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.458	-0.867	0.10115	-0.837000	0.04485	.	.	-0.334000	0.05750	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	995.98	35	chr2	131252972	.	G	A	995.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.90;DP=1173;ExcessHet=0.0000;FS=4.312;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.45;MQRankSum=-3.933e+00;QD=2.31;ReadPosRankSum=2.27;SOR=1.147	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1325	20	0	1	0
chr2	131264168	131264168	G	A	exonic	POTEE	.	nonsynonymous SNV	POTEE:NM_001083538:exon18:c.G2713A:p.E905K,	.	.	1	1518	3	0	0	3	0.000987167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.991	D	0.676	P	.	.	1.000	D	3.86	H	3.04	T	-1.091	T	0.047	T	0.237	3.354	17.30	.	0.119	6.504	5.905	0.200	.	0.0040	0.000998403	0.0062	0.0005	0.0011	0	0.0367	0.0069	0.0124	0.0012	0.0006147	16	26028	rs200315167	0.0060	0.0061	0.0061	0.0059	0.0057	0.0059	0.0058	0.0056	0.0056	0.0008	0.0015	0.0017	5.038e-05	0.0328	0.0003	0.0057	0.0056	0.0014	0.0055	0.0056	0.0044	0.0066	0.0056	0.0052	0.0050	0.0051	0.0049	0.0007	0.0022	0.0016	0.0023	0	0.0353	0.0034	0.0056	0.0047	0.0008	0.006	0.61437	D	0.021	0.58089	D	0.991	0.64070	D	0.676	0.53321	P	.	.	.	.	1	0.81001	D	3.885	0.96017	H	3.04	0.08810	T	-3.07	0.63207	D	0.343	0.38438	-1.0912	0.05335	T	0.047	0.19998	T	8	0.010337621	0.00230	T	.	.	.	0.200	0.48430	.	.	0.201204373187	0.19734	0.29432506962015326	0.29345	.	.	0.581279158592	0.50266	T	0.59643	0.87001	D	-0.469566	0.00855	T	-0.44508	0.28241	T	0.0732573594395912	0.09100	T	0.89971	0.64861	D	0.22847764	0.45568	0.16179506	0.37616	0.22847764	0.45568	0.16179506	0.37615	-8.896	0.67025	D	.	.	0.441	0.61765	A	.	.	2.453534	0.31600	18.79	0.99668965456486669	0.78458	0.62631	0.31840	D	AEFI	0.357987	0.44882	N	0.0276085829770743	0.43113	2.610674	-0.308637198621827	0.27819	1.546392	9.32829367166945E-4	0.08027	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	.	.	.	6.898000	0.75496	.	.	0.199000	0.17910	1.000000	0.71638	0.808000	0.27011	0.031000	0.13245	8.0E-4:0.0:0.9992:0.0	5.905	0.18235	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2345.98	87	chr2	131264168	.	G	A	2345.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=6.04;DP=3005;ExcessHet=0.0000;FS=1.564;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.81;MQRankSum=-9.040e-01;QD=8.92;ReadPosRankSum=-5.930e-01;SOR=0.573	GT:AD:DP:GQ:PL	0/0:186,0:186:99:0,120,1800	20	0	1	0
chr2	131264328	131264328	C	G	exonic	POTEE	.	nonsynonymous SNV	POTEE:NM_001083538:exon18:c.C2873G:p.P958R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.988	D	.	.	1.000	D	4.925	H	-3.76	D	0.850	D	0.952	D	0.325	2.459	14.18	.	0.119	5.240	5.905	0.464	0.139449073447	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1381132398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.566e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.988	0.77976	D	.	.	.	.	1	0.81001	D	5.405	0.99985	H	-3.76	0.95561	D	-6.89	0.93257	D	0.359	0.40063	0.850	0.95033	D	0.952	0.98439	D	8	0.7672896	0.76804	D	0.139449	0.82193	D	0.464	0.76023	.	.	0.672261676673	0.66949	0.059611296577873146	0.05901	.	.	0.548641085625	0.45666	T	0.795583	0.94734	D	0.203698	0.74238	D	0.0548216	0.73901	D	0.997276365756989	0.91171	D	0.957504	0.83996	D	0.48653993	0.66296	0.44293997	0.67527	0.48653993	0.66296	0.44293997	0.67528	-10.758	0.78314	D	.	.	0.562	0.67293	A	.	.	2.697478	0.35225	19.84	0.99590228739079578	0.73572	0.56946	0.30248	D	AEFI	0.295540	0.40563	N	0.243978046719096	0.53342	3.503472	-0.14818538334292	0.33478	1.91544	9.32829367166945E-4	0.08027	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	5.537000	0.66897	.	.	0.179000	0.17797	1.000000	0.71638	1.000000	0.68203	0.113000	0.18872	0.0:0.9992:0.0:8.0E-4	5.905	0.18235	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	552.98	87	chr2	131264328	.	C	G	552.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.03;DP=2445;ExcessHet=0.0000;FS=6.137;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=38.22;MQRankSum=-1.467e+00;QD=3.84;ReadPosRankSum=0.030;SOR=1.407	GT:AD:DP:GQ:PL	0/0:186,0:186:99:0,120,1800	20	0	1	0
chr2	131264474	131264474	C	G	exonic	POTEE	.	nonsynonymous SNV	POTEE:NM_001083538:exon18:c.C3019G:p.P1007A,	.	.	54	1463	5	0	0	5	0.0017059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.103	B	0.006	B	.	.	1.000	N	2.9	M	2.89	T	-1.029	T	0.037	T	0.183	2.208	13.34	.	0.119	5.240	5.905	0.130	0.0220469055316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.737e-07	2.063e-06	0	1.55e-06	0.0003	0	0	.	.	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.071	0.43531	T	0.103	0.25884	B	0.006	0.12133	B	.	.	.	.	1	0.81001	D	3.08	0.87267	M	2.89	0.10196	T	-4.06	0.74582	D	0.36	0.40164	-1.0294	0.20649	T	0.037	0.16160	T	8	0.45167503	0.58737	T	0.022047	0.44897	T	0.130	0.35528	0.759	0.88811	0.0551355673512	0.04727	0.004799797664944838	0.00451	.	.	0.575396418571	0.49437	T	0.655179	0.89584	D	-0.181814	0.23467	T	-0.498939	0.22457	T	0.824835538864136	0.48134	D	0.976502	0.91818	D	0.13685185	0.31710	0.14074449	0.33539	0.13685185	0.31709	0.14074449	0.33538	-8.616	0.65195	D	.	.	0.150	0.33086	B	.	.	1.621806	0.20713	14.88	0.95299511881352827	0.26618	0.57305	0.30342	D	AEFI	0.215913	0.34122	N	-0.534621343708911	0.20967	1.109326	-0.688031739326576	0.17260	0.9169333	9.32829367166945E-4	0.08027	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	5.537000	0.66897	.	.	0.179000	0.17797	1.000000	0.71638	1.000000	0.68203	0.184000	0.21420	0.0:0.9992:0.0:8.0E-4	5.905	0.18235	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	148.99	27	chr2	131264474	.	C	G	148.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.18;DP=585;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0252;MLEAC=1;MLEAF=0.024;MQ=26.83;MQRankSum=-3.590e-01;QD=3.31;ReadPosRankSum=-4.230e-01;SOR=0.664	GT:AD:DP:GQ:PL	0/0:29,0:29:75:0,75,1125	20	0	1	0
chr2	131479422	131479422	T	A	exonic	TUBA3D	.	nonsynonymous SNV	TUBA3D:NM_080386:exon3:c.T341A:p.I114N,	.	.	420	1099	3	0	0	3	0.00136302	.	.	707721	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.005	B	0.051	B	0.000	U	1.000	D	2.86	M	-0.51	T	-0.428	T	0.336	T	0.557	0.897	8.646	2.24	1.023	6.683	8.038	0.424	.	.	.	0.0048	0.0514	0.0026	0	0	0.0003	0.0055	6.058e-05	0.0038421	594	154602	rs148497877	0.0002	0.0012	0.0002	0.0001	0.0053	0.0001	0.0001	0.0046	0.0044	0.0053	0.0002	0	0	0	0.0003	8.994e-06	0.0005	2.319e-05	0.0014	0.0055	0.0013	0.0015	0.0049	0.0012	0.0012	0.0043	0.0041	0.0049	0	0.0007	0	0	0	0	1.471e-05	0.0014	0	.	.	.	0.022	0.57587	D	.	.	.	.	.	.	0.000287	0.46274	U	0.000000	0.999585	0.47691	D	.	.	.	-0.51	0.70597	T	-3.86	0.72471	D	0.97	0.98065	-0.4281	0.71128	T	0.336	0.70273	T	10	0.013592124	0.00288	T	.	.	.	0.424	0.73226	.	.	0.559044820595	0.55565	0.8252579665916356	0.82483	.	.	0.658026874065	0.61127	T	.	.	.	-0.294385	0.09201	T	-0.182667	0.56277	T	0.0711726129563591	0.08814	T	.	.	.	0.24902523	0.47894	0.29107398	0.55132	0.24902523	0.47894	0.29107398	0.55131	-11.878	0.84251	D	.	.	0.582	0.68135	P	.	.	4.190803	0.63158	24.5	0.96044983805579476	0.28544	0.79371	0.39318	D	AEFGCI	0.742309	0.68597	D	-0.09263090310879	0.37716	2.198237	-0.0865132355096149	0.35948	2.085853	0.978561469127381	0.29935	0.581397	0.33459	0	0.588066	0.40923	0	0.602189	0.34648	0	0.622129	0.49086	0	.	.	2.24	2.24	0.27264	6.887000	0.75425	.	.	0.475000	0.22001	1.000000	0.71638	0.999000	0.35428	0.962000	0.52141	0.0:0.0:0.0:1.0	8.038	0.29662	940	0.13648	Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	525.98	35	chr2	131479422	.	T	A	525.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.476e+00;DP=1031;ExcessHet=0.0000;FS=1.120;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.08;MQRankSum=-7.030e+00;QD=1.59;ReadPosRankSum=-1.750e-01;SOR=0.805	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1304	20	0	1	0
chr2	131480177	131480177	G	A	exonic	TUBA3D	.	nonsynonymous SNV	TUBA3D:NM_080386:exon4:c.G484A:p.G162S,	.	.	31	1432	57	2	0	61	0.0208547	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.438	B	0.525	P	0.000	U	1.000	D	2.715	M	-0.38	T	-0.206	T	0.388	T	0.411	2.085	12.93	2.24	1.243	8.151	10.151	0.372	0.013739532995	.	.	2.472e-05	9.612e-05	0	0	0	1.499e-05	0	6.058e-05	0.0001153	3	26028	rs773370954	5.424e-05	0.0007	4.779e-05	6.076e-05	0.0002	4.426e-05	4.097e-05	6.541e-05	4.469e-05	2.995e-05	4.502e-05	0	0.0002	3.8e-05	0	5.229e-05	4.987e-05	8.182e-05	0.0008	0.0088	0.0007	0.0009	0.0015	0.0007	0.0006	0.0007	0.0006	0.0010	0	0.0008	0	0.0015	0.0008	0	0.0007	0	0.0012	.	.	.	0.091	0.40110	T	.	.	.	.	.	.	0.000245	0.46924	U	0.000000	0.999796	0.49177	D	.	.	.	-0.38	0.69027	T	-4.18	0.75537	D	0.746	0.74553	-0.2061	0.77514	T	0.388	0.74253	T	10	0.7384015	0.74784	D	0.01374	0.33370	T	0.372	0.69102	.	.	0.623070239186	0.62000	0.5752379090799399	0.57452	.	.	0.8098269701	0.83465	D	.	.	.	0.0175173	0.54047	T	-0.212614	0.53445	T	0.334729466173626	0.26414	T	.	.	.	0.075779326	0.17095	0.19444855	0.43068	0.075779326	0.17095	0.19444855	0.43067	-9.435	0.70454	D	.	.	0.400	0.59555	A	.	.	5.110224	0.85422	28.6	0.99004400112898183	0.50231	0.94335	0.60838	D	AEFI	0.783927	0.71476	D	0.195489865158393	0.50981	3.283248	0.123047658734254	0.45732	2.831043	0.895999281917701	0.25967	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.24	2.24	0.27264	8.479000	0.90273	.	.	0.318000	0.19305	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	10.151	0.41966	940	0.13648	Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	88.33	33	chr2	131480177	.	G	A	88.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=7.34;DP=1989;ExcessHet=0.0000;FS=47.862;InbreedingCoeff=-0.0374;MLEAC=1;MLEAF=0.025;MQ=52.80;MQRankSum=-7.670e+00;QD=0.42;ReadPosRankSum=0.123;SOR=7.197	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1262	19	0	1	1
chr2	131491987	131491987	G	C	exonic	MZT2A	.	nonsynonymous SNV	MZT2A:NM_001085365:exon2:c.C208G:p.L70V,	.	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.905	P	0.545	P	0.000	D	0.993	D	2.045	M	1.43	T	-1.080	T	0.089	T	0.254	2.319	13.71	2.01	0.305	3.160	8.292	0.078	.	.	0.000599042	0.0081	0.0051	0.0153	0	0	0.0151	0	0.0035	0.0014812	229	154602	rs200244792	0.0060	0.0058	0.0061	0.0058	0.0068	0.0059	0.0058	0.0067	0.0067	0.0011	0.0030	0.0016	0	0.0064	0.0042	0.0068	0.0052	0.0017	0.0042	0.0042	0.0043	0.0040	0.0064	0.0039	0.0038	0.0059	0.0057	0.0010	0	0.0033	0.0023	0	0.0077	0.0034	0.0064	0.0033	0.0010	0.118	0.28148	T	0.33	0.18560	T	0.905	0.49920	P	0.545	0.49043	P	0.000011	0.62929	D	0.068268	0.992871	0.41768	D	2.27	0.64531	M	1.43	0.32958	T	-1.09	0.28290	N	0.342	0.38335	-1.0802	0.07310	T	0.089	0.34353	T	10	0.00947997	0.00214	T	.	.	.	0.078	0.22779	.	.	0.452072420954	0.44828	0.270102797742641	0.26923	0.582482610262	0.54005	0.832005620003	0.86869	D	0.012696	0.11113	T	-0.477913	0.00761	T	-0.457485	0.26875	T	0.0439371842285023	0.04408	T	0.748325	0.36895	T	0.16187933	0.36227	0.1458817	0.34581	0.16187933	0.36226	0.1458817	0.34580	-11.303	0.81293	D	.	.	0.094	0.14523	B	.	.	4.073558	0.60544	24.2	0.98123766532953116	0.38457	0.58582	0.30681	D	AEFDBCI	0.364501	0.45302	N	0.0327037417616018	0.43347	2.629451	-0.0475589832482187	0.37597	2.203438	0.999997347311764	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	2.94	2.01	0.25568	4.513000	0.60194	.	.	0.433000	0.20966	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1328:0.0:0.8672:0.0	8.292	0.31125	911	0.21964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1571.98	35	chr2	131491987	.	G	C	1571.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.870e+00;DP=849;ExcessHet=0.0000;FS=8.181;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.49;MQRankSum=-1.611e+00;QD=14.83;ReadPosRankSum=0.481;SOR=0.252	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	20	0	1	0
chr2	131492322	131492322	C	A	exonic	MZT2A	.	stopgain	MZT2A:NM_001085365:exon1:c.G55T:p.E19X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	3.699	18.79	1.99	0.410	1.724	3.391	.	.	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs183717546	1.095e-05	1.437e-05	7.207e-06	1.478e-05	0.0001	6.57e-06	5.21e-06	5.544e-05	3.622e-05	3.472e-05	0.0001	4.094e-05	0	0	0	4.652e-06	5.248e-05	0	2.65e-05	2.628e-05	2.59e-05	2.713e-05	0.0002	8.19e-06	5.18e-06	5.299e-05	2.839e-05	2.468e-05	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000310	0.45977	D	0.184216	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.017	0.00226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.339209	0.85783	D	0.518774	0.94986	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.913766	0.99429	44	0.98669723698410761	0.44456	0.10785	0.16191	N	AEFDBHCI	0.118552	0.23177	N	0.212644052155506	0.51813	3.359583	-0.108085754303857	0.35063	2.024154	0.999999999584687	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	2.88	1.99	0.25423	2.125000	0.41639	.	.	0.371000	0.20270	0.115000	0.23085	1.000000	0.68203	0.614000	0.31742	0.2514:0.6038:0.0:0.1449	3.391	0.06865	911	0.21964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1124.98	35	chr2	131492322	.	C	A	1124.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.300e-02;DP=866;ExcessHet=0.0000;FS=1.836;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=-1.263e+00;SOR=0.919	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	20	0	1	0
chr2	131532730	131532730	C	T	exonic	CCDC74A	.	nonsynonymous SNV	CCDC74A:NM_001349041:exon5:c.C704T:p.A235V	.	.	412	1108	2	0	0	2	0.000901713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	.	.	.	.	.	.	1.000	D	.	.	0.82	T	-0.905	T	0.144	T	.	1.345	10.42	-2.01	-0.312	-1.157	5.909	0.024	.	.	.	3.325e-05	9.699e-05	8.666e-05	0.0001	0	0	0	6.144e-05	3.84e-05	1	26028	rs769502307	1.779e-05	1.847e-05	1.226e-05	2.338e-05	0.0001	1.238e-05	1.052e-05	5.396e-05	4.042e-05	2.988e-05	4.474e-05	0	0.0001	0	0	3.598e-06	8.284e-05	0.0001	1.315e-05	1.97e-05	0	2.692e-05	0.0002	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	0	0	0.0002	0.007	0.59928	D	0.035	0.52389	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.82	0.48142	T	-0.31	0.12099	N	.	.	-0.9052	0.47424	T	0.144	0.46678	T	6	0.07405859	0.11272	T	.	.	.	0.024	0.04979	0.241	0.17371	0.357313475932	0.35345	.	.	.	.	.	.	.	0.024174	0.18318	T	-0.299912	0.08668	T	-0.368256	0.37093	T	0.0236171637512177	0.01097	T	0.257674	0.04066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	0.42361	B	.	.	-0.306494	0.02589	0.319	0.97680349843966441	0.35311	0.00998	0.03780	N	AEFI	0.014932	0.00259	N	-0.554988304395345	0.20327	1.070768	-0.700373456901495	0.16951	0.8991216	1.71045719538904E-6	0.01202	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	2.66	-2.01	0.07003	-1.291000	0.02883	.	.	-1.790000	0.00639	0.189000	0.24175	0.000000	0.08366	0.046000	0.14843	0.0:0.5016:0.0:0.4984	5.909	0.18260	906	0.23090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1875.98	34	chr2	131532730	.	C	T	1875.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.710e-01;DP=868;ExcessHet=0.0000;FS=2.731;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.92;MQRankSum=-3.700e+00;QD=11.04;ReadPosRankSum=1.09;SOR=0.491	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr2	132782070	132782070	C	T	exonic	NCKAP5	.	nonsynonymous SNV	NCKAP5:NM_207363:exon14:c.G4741A:p.G1581S,	.	.	434	1087	1	0	0	1	0.00045977	.	.	2349309	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.19	T	0.196	B	0.012	B	0.829	N	1.000	N	0.345	N	2.98	T	-0.967	T	0.017	T	0.05	-0.349	2.351	3.41	0.703	1.334	7.909	0.030	0.00293836299847	.	.	0.0001	0.0001	8.639e-05	0.0002	0	2.997e-05	0.0022	0.0004	9.7e-05	15	154602	rs760973428	6.431e-05	6.43e-05	3.812e-05	9.077e-05	0.0006	5.362e-05	4.977e-05	0.0004	0.0004	5.974e-05	0.0001	0	0.0001	3.745e-05	0	2.159e-05	0.0001	0.0006	3.943e-05	3.94e-05	2.57e-05	5.38e-05	0.0006	1.715e-05	1.129e-05	0.0002	8.992e-05	4.826e-05	0	0	0	0.0002	0	0	0	0	0.0006	0.254	0.16903	T	0.817	0.03863	T	0.196	0.29532	B	0.012	0.16012	B	0.829203	0.09119	N	0.873109	1	0.19486	N	1.15	0.29295	L	2.98	0.09356	T	-0.7	0.19933	N	0.038	0.02088	-0.9669	0.37834	T	0.017	0.06855	T	10	0.027691096	0.00911	T	0.002938	0.06250	T	0.030	0.07022	0.096	0.01287	0.082315109003	0.07666	0.057400907836167546	0.05681	0.0436608756249	0.04704	0.215401664376	0.01061	T	0.007792	0.07174	T	-0.632494	0.00092	T	-0.775225	0.02601	T	0.0182025957141403	0.00541	T	0.687731	0.29668	T	0.033099946	0.03462	0.045465168	0.06123	0.033099946	0.03461	0.045465168	0.06122	-2.466	0.05553	T	.	.	0.073	0.04640	B	.;.	.;.	0.411886	0.07828	4.522	0.63961440082837462	0.07364	0.26510	0.23014	N	AEFI	0.151781	0.27633	N	-0.767949321795897	0.14150	0.702576	-0.748105950077695	0.15769	0.8309694	0.00119372091143487	0.08324	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.33	3.41	0.38145	1.589000	0.36253	.	.	-0.238000	0.07553	0.347000	0.25734	0.000000	0.08366	0.003000	0.05239	0.0:0.7892:0.0:0.2108	7.909	0.28941	976	0.04745	Nck-associated protein 5, C-terminal;Nck-associated protein 5, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3062.98	72	chr2	132782070	.	C	T	3062.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.77;DP=1523;ExcessHet=0.0000;FS=2.802;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=-1.008e+00;SOR=0.877	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1359	20	0	1	0
chr2	132783849	132783849	T	A	exonic	NCKAP5	.	nonsynonymous SNV	NCKAP5:NM_207363:exon14:c.A2962T:p.T988S,	.	.	421	1087	14	0	0	14	0.00639854	.	.	697021	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.74	T	0.001	B	0.002	B	0.410	U	1.000	N	0	N	2.96	T	-0.975	T	0.000	T	0.038	-1.664	0.012	-2.04	-0.579	-0.566	1.986	0.003	.	0.0029	0.0325479	0.0099	0.0078	0.0008	0.0949	0.0002	0.0006	0.0052	0.0169	0.0092884	1436	154602	rs61746887	0.0042	0.0042	0.0041	0.0043	0.0873	0.0041	0.0041	0.0849	0.0839	0.0077	0.0010	0.0002	0.0873	1.989e-05	0.0090	0.0005	0.0116	0.0115	0.0062	0.0062	0.0058	0.0066	0.0972	0.0059	0.0057	0.0901	0.0874	0.0064	0	0.0023	0.0003	0.0972	9.414e-05	0.0068	0.0007	0.0090	0.0147	0.561	0.06361	T	0.664	0.06427	T	0.001	0.07471	B	0.002	0.06944	B	0.410347	0.04587	U	1.476590	1	0.08975	N	1.32	0.33002	L	2.96	0.09542	T	-0.29	0.11728	N	0.048	0.01999	-0.9754	0.36037	T	0.000	0.00152	T	10	0.0032952726	0.00057	T	.	.	.	0.003	0.00094	.	.	.	.	0.11082775677587914	0.11011	0.0433135789395	0.04667	0.198995292187	0.00428	T	0.002765	0.02156	T	-0.803472	0.00007	T	-0.853055	0.00922	T	0.00113799665786856	0.00011	T	0.327267	0.06786	T	0.03022385	0.02650	0.025069835	0.00541	0.03022385	0.02649	0.025069835	0.00540	-2.621	0.06664	T	.	.	0.095	0.14979	B	.;.	.;.	-1.623157	0.00229	0.003	0.34349384205179506	0.02096	0.14036	0.18188	N	AEFBI	0.095565	0.19306	N	-1.50928442878019	0.01788	0.07835003	-1.50873930393952	0.02276	0.1044445	1.69792105174003E-4	0.05721	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.89	-2.04	0.06937	-1.364000	0.02696	.	.	-0.694000	0.04098	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1234:0.3066:0.1274:0.4426	1.986	0.03227	976	0.04745	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2184.98	81	chr2	132783849	.	T	A	2184.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.267;DP=1590;ExcessHet=0.0000;FS=1.549;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.42;ReadPosRankSum=0.323;SOR=0.734	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:80,0:80:99:.:.:0,120,1800	20	0	1	0
chr2	132784298	132784298	G	T	exonic	NCKAP5	.	nonsynonymous SNV	NCKAP5:NM_207363:exon14:c.C2513A:p.A838D,	.	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.919	P	0.51	P	0.002	U	1.000	N	0.975	L	0.89	T	-1.046	T	0.083	T	0.266	1.206	9.897	2.08	0.243	2.072	5.620	0.100	0.0122249721342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.028	0.54934	D	0.919	0.50927	P	0.51	0.47925	P	0.001705	0.38216	U	0.000000	1	0.08975	N	2.505	0.72935	M	0.89	0.45636	T	-1.08	0.28084	N	0.451	0.57775	-1.0462	0.15476	T	0.083	0.32499	T	10	0.23833513	0.40952	T	0.012225	0.30597	T	0.100	0.28662	0.09	0.01023	0.225033846419	0.22103	0.3132139575603709	0.31234	0.240212864778	0.26565	0.305776238441	0.11269	T	0.005525	0.04972	T	-0.154436	0.27618	T	-0.459613	0.26640	T	0.744059503078461	0.42957	D	0.805819	0.45382	T	0.2492459	0.47918	0.2271649	0.47718	0.2492459	0.47918	0.2271649	0.47717	-4.18	0.26461	T	.	.	0.178	0.38871	B	.;.	.;.	2.259925	0.28873	17.94	0.98893195234838549	0.48037	0.84434	0.43516	D	AEFBI	0.265951	0.38297	N	-0.200090190320815	0.33129	1.876186	-0.30038168124897	0.28086	1.563267	1.78607105011621E-4	0.05786	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.97	2.08	0.26079	2.306000	0.43333	.	.	0.672000	0.70159	0.995000	0.38783	0.138000	0.23065	0.123000	0.19290	0.2126:0.2842:0.5032:0.0	5.620	0.16731	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1965.98	84	chr2	132784298	.	G	T	1965.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.606e+00;DP=1840;ExcessHet=0.0000;FS=1.192;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=-2.800e-01;SOR=0.595	GT:AD:DP:GQ:PL	0/0:80,0:80:99:0,120,1800	20	0	1	0
chr2	132784935	132784935	A	G	exonic	NCKAP5	.	nonsynonymous SNV	NCKAP5:NM_207363:exon14:c.T1876C:p.S626P,	.	.	439	1073	10	0	0	10	0.00463822	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.42	B	0.197	B	0.255	U	1.000	N	0.975	L	0.84	T	-1.009	T	0.095	T	0.271	0.631	7.392	1.95	0.562	0.714	8.598	0.076	0.012434163557	8.3e-05	0.000998403	0.0011	0.0001	0	0.0005	0	0.0004	0	0.0081	0.0009185	142	154602	rs201000665	0.0005	0.0005	0.0004	0.0007	0.0063	0.0005	0.0005	0.0058	0.0057	6.085e-05	0.0002	0	0.0005	0	0.0018	0.0002	0.0005	0.0063	0.0006	0.0006	0.0003	0.0009	0.0067	0.0005	0.0005	0.0048	0.0042	4.814e-05	0	0.0025	0	0.0002	0	0.0034	0.0003	0.0005	0.0067	0.011	0.55530	D	0.099	0.38891	T	0.42	0.35330	B	0.197	0.36707	B	0.254944	0.15432	U	0.466067	1	0.18198	N	2.155	0.60227	M	0.84	0.47477	T	-1.7	0.40468	N	0.186	0.20262	-1.0094	0.27105	T	0.095	0.35791	T	10	0.0037727058	0.00070	T	0.012434	0.30996	T	0.076	0.22200	.	.	0.082315109003	0.07666	0.076513547544345	0.07587	0.0490270278888	0.05361	0.30133664608	0.10600	T	0.005112	0.04549	T	-0.481841	0.00721	T	-0.462988	0.26274	T	0.0273570029385819	0.01594	T	0.50265	0.15781	T	0.20821725	0.43051	0.24029279	0.49400	0.20821725	0.43051	0.24029279	0.49399	-3.727	0.19717	T	.	.	0.078	0.07036	B	.;.	.;.	0.716596	0.10854	7.532	0.98996354087645733	0.50044	0.13105	0.17666	N	AEFBI	0.166332	0.29291	N	-0.618814560407376	0.18379	0.9537493	-0.674466003117495	0.17600	0.9365959	3.57138190330216E-4	0.06668	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.64	1.95	0.25130	1.188000	0.31711	.	.	0.751000	0.87719	0.131000	0.23362	0.007000	0.19602	0.113000	0.18872	0.7842:0.0:0.2158:0.0	8.598	0.32887	976	0.04745	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3338.98	130	chr2	132784935	.	A	G	3338.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.088e+00;DP=2495;ExcessHet=0.0000;FS=2.513;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.98;ReadPosRankSum=1.73;SOR=0.547	GT:AD:DP:GQ:PL	0/1:167,137:304:99:3353,0,4475	20	0	1	0
chr2	134362338	134362338	T	C	exonic	MGAT5	.	nonsynonymous SNV	MGAT5:NM_002410:exon10:c.T1310C:p.I437T	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.03	B	0.037	B	0.000	D	1.000	D	1.5	L	.	.	-0.864	T	0.201	T	0.503	1.161	9.725	5.91	2.261	6.084	16.342	0.091	0.0038582838938	0.0008	0.000199681	0.0010	9.61e-05	0.0002	0	0	0.0017	0	0	0.0008085	125	154602	rs148183644	0.0007	0.0007	0.0007	0.0007	0.0016	0.0006	0.0006	0.0008	0.0006	0.0001	0.0003	0.0257	0	0	0.0016	0.0001	0.0022	8.115e-05	0.0007	0.0007	0.0008	0.0007	0.0004	0.0006	0.0006	0.0002	0.0001	4.813e-05	0	0.0004	0.0248	0	0	0	0.0002	0.0005	0.0002	0.577	0.06049	T	0.612	0.07642	T	0.03	0.20002	B	0.037	0.23121	B	0.000010	0.62929	D	0.146071	0.999907	0.50806	D	1.87	0.49600	L	.	.	.	0.33	0.03889	N	0.308	0.34767	-0.8644	0.50944	T	0.201	0.55794	T	9	0.0041300654	0.00081	T	0.003858	0.09055	T	0.091	0.26358	.	.	0.0675242888579	0.06100	0.8888129293929042	0.88850	1.01612100835	0.74962	0.733451008797	0.72010	T	0.211683	0.57252	T	-0.201062	0.20650	T	-0.223459	0.52402	T	0.0262857376795136	0.01444	T	0.909009	0.67793	D	0.10906787	0.25786	0.1145061	0.27639	0.10906787	0.25786	0.1145061	0.27638	-4.299	0.28163	T	.	.	0.151	0.33412	B	.;.	.;.	2.865048	0.37866	20.6	0.90358510096794342	0.19622	0.95694	0.65759	D	AEFDBI	0.530251	0.55102	D	0.0378062261687105	0.43582	2.648346	0.232360345587245	0.51652	3.345878	0.999999999832789	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	6.067000	0.70831	7.908000	0.73883	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.0:0.0:0.0:1.0	16.342	0.82918	963	0.08280	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1206.98	33	chr2	134362338	.	T	C	1206.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.590e-01;DP=795;ExcessHet=0.0000;FS=1.609;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=-1.483e+00;SOR=0.798	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1272	20	0	1	0
chr2	134986956	134986956	A	C	exonic	MAP3K19	.	nonsynonymous SNV	MAP3K19:NM_001018044:exon5:c.T1577G:p.L526R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.962	D	0.021	N	1.000	N	1.445	L	1.56	T	-0.529	T	0.401	T	0.836	2.365	13.87	4.67	2.210	1.572	2.585	0.256	0.0797731881974	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1472049278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.574e-06	6.569e-06	0	1.346e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.001	0.83351	D	0.826	0.49025	P	0.292	0.47260	B	0.021082	0.26903	N	0.179749	1	0.19072	N	2.485	0.72352	M	-0.81	0.74477	T	-1.88	0.52451	N	0.561	0.75559	-0.5293	0.67568	T	0.401	0.75238	T	10	0.24826217	0.42121	T	0.079773	0.73310	D	0.256	0.56694	0.233	0.16155	0.877672388166	0.87648	0.49253133454296266	0.49174	0.416335992142	0.42276	0.297835707664	0.10080	T	0.003329	0.02738	T	0.229297	0.76656	D	0.0915931	0.76353	D	0.970977962017059	0.69145	D	0.773323	0.41422	T	0.38979065	0.60016	0.39115608	0.63893	0.38979065	0.60017	0.39115608	0.63893	-3.584	0.19171	T	.	.	0.102	0.36174	B	.;.;.;.;.	.;.;.;.;.	2.420934	0.31130	18.65	0.99659075713685408	0.77820	0.59724	0.30995	D	AEFBI	0.219802	0.34464	N	0.198408868986846	0.51123	3.296067	0.181290945393516	0.48822	3.093085	0.0122114367291128	0.12295	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.81	4.67	0.58089	1.577000	0.36124	2.459000	0.32846	0.756000	0.94297	0.897000	0.31356	0.852000	0.27401	0.935000	0.47363	0.6025:0.0:0.2:0.1975	2.585	0.04535	897	0.25382	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2652.98	36	chr2	134986956	.	A	C	2652.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.940e-01;DP=941;ExcessHet=0.0000;FS=4.233;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.50;ReadPosRankSum=0.852;SOR=0.466	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1183	20	0	1	0
chr2	134987734	134987734	A	G	exonic	MAP3K19	.	nonsynonymous SNV	MAP3K19:NM_001018044:exon5:c.T799C:p.Y267H	.	.	427	1047	47	1	0	49	0.0228651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.004	B	0.004	B	0.634	N	1.000	N	0.69	N	1.94	T	-1.039	T	0.104	T	0.119	-0.850	0.549	-0.821	-0.036	-0.437	2.434	0.019	.	0.0028	0.00998403	0.0087	0.0006	0.0037	0	0.0012	0.0045	0.0144	0.0416	0.0080594	1246	154602	rs140022497	0.0057	0.0057	0.0044	0.0071	0.0431	0.0056	0.0056	0.0420	0.0415	0.0006	0.0039	0.0036	7.559e-05	0.0011	0.0232	0.0034	0.0063	0.0431	0.0035	0.0035	0.0033	0.0037	0.0327	0.0033	0.0032	0.0286	0.0270	0.0007	0.0011	0.0036	0.0035	0.0006	0.0017	0.0068	0.0035	0.0066	0.0327	0.286	0.17069	T	0.431	0.14679	T	0.003	0.12183	B	0.002	0.10090	B	0.634177	0.05830	N	1.238580	1	0.08975	N	1.445	0.36358	L	-0.42	0.69536	T	-0.97	0.25770	N	0.077	0.05162	-1.0393	0.17526	T	0.104	0.38144	T	10	0.0024988353	0.00038	T	.	.	.	0.019	0.03383	.	.	0.511735687887	0.50815	0.050829714466138445	0.05024	0.14687753787	0.16573	0.226953357458	0.01750	T	0.002246	0.01642	T	-0.573549	0.00211	T	-0.565224	0.15890	T	0.000890545815876997	0.00008	T	0.509849	0.16238	T	0.040088873	0.05657	0.03199676	0.01869	0.040088873	0.05657	0.03199676	0.01869	-3.157	0.13126	T	.	.	0.090	0.24498	B	.;.;.;.	.;.;.;.	-0.279728	0.02708	0.354	0.4493988042106678	0.03491	0.05265	0.11104	N	AEFBI	0.103133	0.20671	N	-1.21234015646499	0.04819	0.2183486	-1.23364004326654	0.05378	0.2560778	6.0288634170171E-4	0.07437	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.87	-0.821	0.10276	-0.684000	0.05275	0.377000	0.17739	-0.587000	0.04669	0.000000	0.06391	0.000000	0.08366	0.419000	0.27206	0.2463:0.4496:0.1853:0.1188	2.434	0.04205	897	0.25382	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4749.11	125	chr2	134987734	.	A	G	4749.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.90;DP=1229;ExcessHet=0.1072;FS=0.828;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=0.686;SOR=0.634	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1183	19	0	2	0
chr2	135126596	135126596	A	G	exonic	RAB3GAP1	.	nonsynonymous SNV	RAB3GAP1:NM_001172435:exon11:c.A913G:p.I305V	Warburg micro syndrome 1, Autosomal recessive	.	4	1474	41	3	0	47	0.0156928	.	.	135518	not_provided|not_specified|RAB3GAP1-related_disorder|Warburg_micro_syndrome_1	MedGen:C3661900|MedGen:CN169374|.|MONDO:MONDO:0010822,MedGen:C1838625,OMIM:600118,Orphanet:2510	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.55	T	0.0	B	0.001	B	0.042	N	1.000	N	0.895	L	0.01	T	-1.030	T	0.085	T	0.067	1.489	10.93	-5.78	-1.351	0.050	14.072	0.097	.	0.0072	0.00898562	0.0089	0.0021	0.0054	0.0001	0.0026	0.0099	0.0110	0.0189	0.0086804	1342	154602	rs116775947	0.0077	0.0078	0.0072	0.0083	0.0187	0.0076	0.0076	0.0180	0.0177	0.0012	0.0052	0.0198	7.568e-05	0.0024	0.0141	0.0073	0.0083	0.0187	0.0066	0.0065	0.0069	0.0062	0.0228	0.0062	0.0061	0.0194	0.0181	0.0016	0	0.0078	0.0202	0.0002	0.0025	0.0034	0.0086	0.0076	0.0228	0.341	0.12673	T	0.279	0.29442	T	0.0	0.02946	B	0.001	0.04355	B	0.041509	0.23942	N	0.490245	0.999958	0.19072	N	1.04	0.26193	L	0.01	0.62459	T	-0.27	0.12099	N	0.13	0.14338	-1.0304	0.20325	T	0.085	0.33099	T	10	0.005227387	0.00114	T	.	.	.	0.097	0.27909	.	.	0.17948927462	0.17512	0.2884991921773474	0.28762	0.184370431722	0.20736	0.294789135456	0.09627	T	0.061067	0.31556	T	-0.59588	0.00154	T	-0.613122	0.11732	T	0.00159665183169324	0.00016	T	0.777722	0.41106	T	0.027858831	0.02039	0.03528073	0.02750	0.027074276	0.01849	0.05714349	0.10334	-3.78	0.20506	T	0.1100644318538572	0.09261	0.061	0.01449	B	.;.;.	.;.;.	0.537842	0.09066	5.847	0.67689070614332958	0.08430	0.26068	0.22886	N	AEFBCI	0.112483	0.22231	N	-1.17102947563102	0.05442	0.2481394	-1.14005652483478	0.06947	0.3361967	0.991107614601228	0.32374	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.72	-5.78	0.02169	0.048000	0.13962	0.132000	0.15059	-0.191000	0.09375	0.038000	0.20882	0.279000	0.24096	0.981000	0.58702	0.1983:0.6775:0.1243:0.0	14.072	0.64387	832	0.38914	.;.;.	.	.	.	.	rs116775947	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	1333.98	33	chr2	135126596	.	A	G	1333.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.49;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=-4.620e-01;SOR=0.767	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr2	135132926	135132926	C	G	exonic	RAB3GAP1	.	nonsynonymous SNV	RAB3GAP1:NM_001172435:exon14:c.C1268G:p.P423R	Warburg micro syndrome 1, Autosomal recessive	.	24	1490	8	0	0	8	0.00267738	.	.	365536	Warburg_micro_syndrome_1|not_provided	MONDO:MONDO:0010822,MedGen:C1838625,OMIM:600118,Orphanet:2510|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.58	T	0.468	P	0.1	B	0.228	N	1.000	N	1.245	L	0.92	T	-1.056	T	0.068	T	0.249	1.067	9.358	3.29	0.547	2.054	8.432	0.029	0.0127237545272	.	0.000399361	0.0006	9.773e-05	0.0003	0	0	0.0002	0	0.0036	0.0005757	89	154602	rs143010678	0.0003	0.0003	0.0002	0.0005	0.0032	0.0003	0.0003	0.0028	0.0027	3.057e-05	2.239e-05	0	2.539e-05	1.878e-05	0.0032	0.0002	0.0003	0.0031	0.0002	0.0002	0.0002	0.0002	0.0025	0.0001	0.0001	0.0014	0.0011	2.409e-05	0	0.0003	0	0	0	0	0.0002	0	0.0025	0.012	0.54683	D	0.042	0.50226	D	0.468	0.36503	P	0.1	0.30674	B	0.227915	0.15987	N	0.664924	1	0.08975	N	1.735	0.44892	L	0.92	0.44856	T	-1.47	0.37178	N	0.28	0.31702	-1.0559	0.12803	T	0.068	0.27811	T	10	0.0061053634	0.00137	T	0.012724	0.31538	T	0.029	0.06676	.	.	0.367229591828	0.36328	0.2104353704282954	0.20959	0.259043582992	0.28458	0.308571577072	0.11691	T	0.130254	0.45904	T	-0.473822	0.00805	T	-0.456754	0.26952	T	0.00674449374715561	0.00076	T	0.79692	0.44048	T	0.060936794	0.12560	0.06708236	0.13829	0.05159249	0.09495	0.073271774	0.15904	-3.547	0.17338	T	0.2089085635546057	0.27954	0.097	0.16800	B	.;.;.	.;.;.	1.356155	0.17643	13.29	0.98034752028762584	0.37743	0.34280	0.25030	N	AEFBI	0.076307	0.15347	N	-0.622205003327226	0.18278	0.9476791	-0.6040986123179	0.19388	1.039947	0.340299420414568	0.19576	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.08	3.29	0.36801	2.123000	0.41620	-0.355000	0.09716	0.549000	0.26987	0.195000	0.24249	0.000000	0.08366	0.974000	0.55675	0.0:0.6999:0.0:0.3001	8.432	0.31927	842	0.36989	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	1049.98	37	chr2	135132926	.	C	G	1049.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.720e-01;DP=776;ExcessHet=0.0000;FS=0.759;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.82;ReadPosRankSum=0.191;SOR=0.578	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr2	135150478	135150478	G	A	exonic	RAB3GAP1	.	nonsynonymous SNV	RAB3GAP1:NM_001172435:exon18:c.G2033A:p.C678Y	Warburg micro syndrome 1, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.999	D	0.989	D	0.000	D	1.000	D	1.52	L	0.95	T	-0.816	T	0.226	T	0.889	4.761	26.7	5.73	2.704	9.817	19.889	0.462	0.0328175055306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.194	0.28120	T	0.999	0.77913	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.175	0.60977	M	0.94	0.43672	T	-4.84	0.81350	D	0.806	0.80180	-0.8158	0.54196	T	0.226	0.59007	T	10	0.7528297	0.75763	D	0.032818	0.54540	D	0.462	0.75889	0.292	0.25400	0.787845960387	0.78587	0.7804006258329238	0.77991	1.08417428134	0.77226	0.861341714859	0.91309	D	0.410921	0.76552	T	0.229901	0.76712	D	0.0924597	0.76410	D	0.986279542489515	0.77035	D	0.965303	0.87188	D	0.6975966	0.77925	0.74918914	0.85175	0.6975966	0.77927	0.74918914	0.85176	-12.259	0.86089	D	0.8525736345874876	0.91832	0.967	0.90188	P	.;.;.	.;.;.	5.399074	0.90416	31	0.99790559603038553	0.87661	0.99076	0.90873	D	AEFBI	0.921676	0.89551	D	0.819535789666287	0.87312	9.174498	0.842327661817593	0.92561	11.49749	0.999999999999983	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.73	5.73	0.89730	9.949000	0.98962	11.886000	0.98962	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.889	0.96921	847	0.35998	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	703.98	43	chr2	135150478	.	G	A	703.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.627e+00;DP=737;ExcessHet=0.0000;FS=2.571;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.80;ReadPosRankSum=0.507;SOR=0.343	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,103,1289	20	0	1	0
chr2	135153721	135153721	G	C	exonic	RAB3GAP1	.	nonsynonymous SNV	RAB3GAP1:NM_001172435:exon19:c.G2134C:p.V712L	Warburg micro syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.001	B	0.01	B	0.002	N	1.000	D	0.585	N	0.96	T	-1.087	T	0.066	T	0.317	2.570	14.55	4.52	1.299	5.702	11.248	0.026	0.00916011762551	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.546	0.07695	T	0.454	0.12884	T	0.001	0.07471	B	0.007	0.12992	B	0.002121	0.37183	N	0.258170	0.998365	0.44821	D	1.04	0.26193	L	0.96	0.42888	T	-1.06	0.28290	N	0.353	0.39457	-1.0865	0.06138	T	0.066	0.27156	T	10	0.115828454	0.21834	T	0.00916	0.24083	T	0.026	0.05648	0.189	0.09907	0.474954162714	0.47126	0.36482779472885013	0.36396	0.223275487687	0.24858	0.541095495224	0.44599	T	0.124802	0.45008	T	-0.150491	0.28235	T	-0.453947	0.27260	T	0.419142510498911	0.29659	T	0.880112	0.59716	D	0.040517136	0.05797	0.05471902	0.09465	0.040517136	0.05797	0.05471902	0.09464	-6.345	0.51130	T	0.513049502216929	0.58652	0.141	0.31074	B	.;.;.	.;.;.	2.968655	0.39555	21.0	0.99014009082590748	0.50420	0.98239	0.80830	D	AEFBI	0.655320	0.62770	D	-0.175366295483999	0.34163	1.946633	0.0285534360724214	0.41047	2.459518	0.552661290633918	0.21348	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	4.52	0.54797	5.813000	0.68876	8.694000	0.78086	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1466:0.0:0.8534:0.0	11.248	0.48238	862	0.33134	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02632	68.72	36	chr2	135153721	.	G	C	68.72	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.489e+00;DP=1479;ExcessHet=0.0000;FS=187.793;InbreedingCoeff=-0.0500;MLEAC=1;MLEAF=0.026;MQ=60.00;MQRankSum=0.00;QD=0.38;ReadPosRankSum=1.23;SOR=9.437	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1364	18	0	1	2
chr2	135219162	135219162	C	G	exonic	ZRANB3	.	nonsynonymous SNV	ZRANB3:NM_001286568:exon16:c.G2261C:p.S754T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.332	B	0.167	B	0.000	D	0.993	N	0	N	-2.71	D	-0.395	T	0.459	T	0.106	2.549	14.48	3.76	1.127	1.004	9.342	0.276	0.03897661594	8.5e-05	.	3.831e-05	0	0	0	0	8.78e-05	0	0	6.5e-06	1	154602	rs373108921	1.017e-05	1.026e-05	1.004e-05	1.03e-05	1.208e-05	5.9e-06	4.62e-06	6.74e-06	5.19e-06	0	0	0	0	0	0	1.208e-05	1.752e-05	0	2.628e-05	2.627e-05	3.853e-05	1.345e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.015	0.52492	D	0.02	0.62352	D	0.332	0.33274	B	0.167	0.35118	B	0.000072	0.52346	D	0.196582	0.993051	0.23779	N	0.695	0.17993	N	-2.73	0.90679	D	-0.72	0.23156	N	0.242	0.27435	-0.3953	0.72175	T	0.459	0.78992	T	10	0.17148763	0.31870	T	0.038977	0.58541	D	0.276	0.59253	.	.	0.64458063076	0.64164	0.23478852221734697	0.23393	0.0490622048272	0.05365	0.342716693878	0.16844	T	0.045606	0.27172	T	-0.159629	0.26815	T	-0.328371	0.41650	T	0.164001190306984	0.18163	T	0.772323	0.40965	T	0.12525101	0.29367	0.1282881	0.30868	0.12525101	0.29367	0.1282881	0.30867	-4.238	0.35042	T	.	.	0.118	0.25232	B	.;.;.;.	.;.;.;.	2.256755	0.28829	17.93	0.97890495391979948	0.36669	0.78202	0.38548	D	AEFI	0.212409	0.33810	N	-0.368472093704219	0.26598	1.45288	-0.176326401194417	0.32410	1.843566	0.0024739617676078	0.09461	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	6.07	3.76	0.42368	1.132000	0.31031	2.284000	0.31916	-0.181000	0.10308	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.1476:0.0:0.8524	9.342	0.37249	787	0.46738	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	309.98	34	chr2	135219162	.	C	G	309.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.800;DP=745;ExcessHet=0.0000;FS=1.112;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.54;ReadPosRankSum=-7.710e-01;SOR=0.520	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1061	20	0	1	0
chr2	135265569	135265569	A	C	exonic	ZRANB3	.	nonsynonymous SNV	ZRANB3:NM_001286568:exon12:c.T1504G:p.S502A	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.004	B	0.006	B	0.669	N	1.000	N	1.525	L	-2.68	D	-0.545	T	0.572	D	0.069	0.688	7.674	3.45	1.004	0.325	3.937	0.158	0.0271821012149	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1443190639	1.369e-06	1.368e-06	1.362e-06	1.376e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.532	0.06980	T	0.602	0.07894	T	0.004	0.12183	B	0.006	0.12133	B	0.668735	0.06023	N	1.144480	1	0.08975	N	1.735	0.44892	L	-2.7	0.90509	D	-0.08	0.08809	N	0.11	0.12198	-0.5451	0.66971	T	0.572	0.84522	D	10	0.05913219	0.07060	T	0.027182	0.50018	D	0.158	0.41098	0.304	0.27325	0.443797312901	0.43999	0.10863758391276568	0.10792	0.0419156279231	0.04509	0.277381718159	0.07130	T	0.01092	0.09804	T	-0.110508	0.34684	T	-0.396513	0.33790	T	0.0397439022881959	0.03644	T	0.480052	0.14697	T	0.051664222	0.09523	0.0405935	0.04423	0.051664222	0.09522	0.0405935	0.04422	-4.423	0.30692	T	.	.	0.069	0.04806	B	.;.;.	.;.;.	1.626376	0.20771	14.90	0.96769597036488242	0.31031	0.16462	0.19400	N	AEFBI	0.104635	0.20930	N	-0.555411652191397	0.20314	1.069972	-0.46399180319436	0.23153	1.26118	0.00177814595438482	0.08872	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.574951	0.34960	1	.	.	5.83	3.45	0.38602	0.466000	0.21731	3.075000	0.36216	0.756000	0.94297	0.317000	0.25476	0.987000	0.30940	0.989000	0.64315	0.413:0.3967:0.1904:0.0	3.937	0.08807	822	0.40702	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1838.98	33	chr2	135265569	.	A	C	1838.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.256;DP=860;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=0.467;SOR=0.658	GT:AD:DP:GQ:PL	0/1:90,81:171:99:1853,0,2105	20	0	1	0
chr2	135269005	135269005	T	C	exonic	ZRANB3	.	nonsynonymous SNV	ZRANB3:NM_001286568:exon11:c.A1343G:p.N448S	.	.	438	1078	6	0	0	6	0.00277521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.306	B	0.287	B	0.000	D	0.990	D	-0.165	N	-2.97	D	0.048	D	0.552	D	0.065	3.083	16.29	5.55	2.234	3.463	10.367	0.355	0.047852108332	.	.	0.0004	0	0	0	0	0	0	0.0027	0.0002911	45	154602	rs527503710	0.0002	0.0002	9.824e-05	0.0002	0.0025	0.0001	0.0001	0.0022	0.0021	0	0	0	0	0	0.0007	2.701e-06	0.0003	0.0025	0.0001	0.0001	1.287e-05	0.0002	0.0037	7.59e-05	6.293e-05	0.0024	0.0020	0	0	0	0	0	0	0	0	0	0.0037	0.234	0.18562	T	0.066	0.44501	T	0.294	0.32693	B	0.287	0.40572	B	0.000005	0.62929	D	0.139118	0.990062	0.41080	D	-0.42	0.02904	N	-2.97	0.92007	D	-1.4	0.34596	N	0.24	0.27077	0.048	0.83199	D	0.552	0.83607	D	10	0.016221672	0.00341	T	0.047852	0.63111	D	0.355	0.67600	0.401	0.43081	0.643017298775	0.64006	0.24679131454246303	0.24593	0.0664678907798	0.07414	0.388327896595	0.23435	T	0.004518	0.03927	T	-0.396806	0.02430	T	-0.347376	0.39505	T	0.0599702310969217	0.07165	T	0.967503	0.88224	D	0.087009	0.20245	0.08465792	0.19490	0.087009	0.20245	0.08465792	0.19489	-7.273	0.56003	T	.	.	0.076	0.06525	B	.;.	.;.	3.095253	0.41689	21.4	0.99331245764536857	0.59777	0.93579	0.58603	D	AEFBI	0.321244	0.42410	N	-0.0263890044163785	0.40663	2.418709	0.173675485697843	0.48409	3.057252	0.648606548585139	0.22136	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.55	5.55	0.83298	3.429000	0.52567	6.055000	0.53123	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0733:0.0:0.9267	10.367	0.43215	824	0.40336	.;Helicase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1634.98	34	chr2	135269005	.	T	C	1634.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.260e-01;DP=819;ExcessHet=0.0000;FS=0.735;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.14;ReadPosRankSum=0.183;SOR=0.779	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1309	20	0	1	0
chr2	135788386	135788386	G	A	exonic	LCT	.	nonsynonymous SNV	LCT:NM_002299:exon17:c.C5722T:p.R1908C,	Lactase deficiency, congenital, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	1003199	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.2	T	0.0	B	0.0	B	0.446	N	1.000	N	1.79	L	1.66	T	-1.010	T	0.065	T	0.172	-0.289	2.620	0.597	0.075	0.259	0.491	0.055	0.0111566841862	0.0002	.	0.0003	0	0	0.0002	0.0006	0.0003	0	0.0002	0.0002135	33	154602	rs138964370	0.0001	0.0001	0.0001	0.0001	0.0004	0.0001	0.0001	0.0003	0.0002	0	0	0	0.0003	0.0005	0.0002	0.0001	0.0004	0.0004	0.0001	0.0001	0.0001	0.0001	0.0002	7.091e-05	5.748e-05	0.0001	8.876e-05	0	0	0	0	0.0002	0.0003	0	0.0002	0	0	0.185	0.21550	T	0.199	0.27679	T	0.0	0.02946	B	0.0	0.01387	B	0.445709	0.04786	N	1.288110	1	0.08975	N	2.3	0.65703	M	1.66	0.27486	T	-1.11	0.28703	N	0.08	0.05542	-1.0100	0.26917	T	0.065	0.26948	T	10	0.025337279	0.00731	T	0.011157	0.28497	T	0.055	0.15663	.	.	0.186928172975	0.18263	0.330418620443657	0.32954	0.840555430848	0.68044	0.20786485076	0.00724	T	0.33152	0.70159	T	-0.482823	0.00712	T	-0.611308	0.11878	T	0.0257030841879139	0.01366	T	0.321368	0.06521	T	0.07450825	0.16725	0.03845713	0.03719	0.07450825	0.16725	0.03845713	0.03719	-5.526	0.42110	T	.	.	0.087	0.11220	B	.	.	0.767371	0.11374	7.987	0.66322029932879845	0.08025	0.09948	0.15585	N	AEFBCI	0.130138	0.24858	N	-1.33025772250001	0.03334	0.1487552	-1.34608645523797	0.03852	0.1805372	0.999472121254258	0.39898	0.498214	0.20090	0	0.547309	0.14657	0	0.547309	0.15389	0	0.711	0.71501	0	.	.	5.82	0.597	0.16685	0.288000	0.18695	-0.009000	0.13087	-1.778000	0.00656	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2099:0.258:0.203:0.329	0.491	0.00526	244	0.90442	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	4445.98	35	chr2	135788386	.	G	A	4445.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.21;DP=2252;ExcessHet=0.0000;FS=0.526;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.84;ReadPosRankSum=0.836;SOR=0.770	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr2	135803947	135803947	T	C	exonic	LCT	.	nonsynonymous SNV	LCT:NM_002299:exon11:c.A4646G:p.Y1549C,	Lactase deficiency, congenital, Autosomal recessive	.	0	1503	19	0	0	19	0.00628099	.	.	284150	Inborn_genetic_diseases|Lactose_intolerance|not_provided|Congenital_lactase_deficiency	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0004789,MONDO:MONDO:0100345,MedGen:C0022951|MedGen:C3661900|MONDO:MONDO:0009115,MedGen:C0268179,OMIM:223000,Orphanet:53690	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.118	B	0.271	B	0.004	N	0.957	N	2.19	M	1.45	T	-0.982	T	0.081	T	0.512	1.507	10.99	0.391	-0.156	0.371	2.695	0.108	0.00693093645738	0.0002	0.000798722	0.0010	0.0001	0.0014	0	0	0.0013	0.0023	0.0006	0.0008538	132	154602	rs147495948	0.0006	0.0006	0.0005	0.0006	0.0095	0.0005	0.0005	0.0075	0.0068	0.0005	0.0013	0.0007	2.519e-05	0	0.0095	0.0005	0.0011	0.0005	0.0009	0.0009	0.0007	0.0010	0.0040	0.0007	0.0007	0.0032	0.0029	0.0003	0	0.0040	0	0	0	0.0034	0.0007	0.0033	0.0002	0.154	0.24277	T	0.079	0.42086	T	0.118	0.26577	B	0.271	0.39904	B	0.003701	0.34585	N	0.321131	0.957404	0.26263	N	1.535	0.38868	L	1.45	0.32482	T	-3.37	0.66665	D	0.471	0.50688	-0.9815	0.34655	T	0.081	0.31972	T	10	0.052951872	0.05408	T	0.006931	0.18345	T	0.108	0.30607	.	.	0.434825671192	0.43100	0.7974733071219136	0.79700	0.863038074097	0.69047	0.320655941963	0.13520	T	0.41368	0.76747	T	-0.445592	0.01199	T	-0.463279	0.26242	T	0.0384228685559802	0.03407	T	0.957071	0.83814	D	0.17254777	0.37951	0.24059786	0.49438	0.17254777	0.37951	0.24059786	0.49437	-7.935	0.60626	D	.	.	0.166	0.36594	B	.	.	0.970545	0.13477	9.986	0.98874049049194701	0.47702	0.41480	0.26666	N	AEFDBI	0.379394	0.46243	N	-0.638579762997715	0.17794	0.9186643	-0.724957828444461	0.16340	0.8639469	0.476227674103568	0.20748	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.78	0.391	0.15506	0.379000	0.20315	-1.936000	0.04469	-0.122000	0.13826	0.117000	0.23121	0.000000	0.08366	0.023000	0.12082	0.1054:0.133:0.2112:0.5504	2.695	0.04815	242	0.90534	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2214.11	34	chr2	135803947	.	T	C	2214.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=5.19;DP=839;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=0.799;SOR=0.665	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1289	19	0	2	0
chr2	135822058	135822058	A	C	exonic	LCT	.	nonsynonymous SNV	LCT:NM_002299:exon5:c.T948G:p.I316M,	Lactase deficiency, congenital, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1466531	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.129	B	0.033	B	0.278	N	1.000	N	1.04	L	1.53	T	-1.044	T	0.045	T	0.237	1.688	11.60	-1.51	-0.131	-0.774	6.605	0.022	0.00563786899832	.	.	8.239e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs756598710	6.176e-06	6.157e-06	8.199e-06	4.136e-06	0.0010	2.91e-06	2.11e-06	0.0005	0.0003	2.995e-05	0	0	0	0	0.0010	0	1.661e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.203	0.27325	T	0.129	0.27048	B	0.033	0.22329	B	0.278047	0.14998	N	0.655857	1	0.08975	N	0.805	0.20218	L	1.53	0.30401	T	-0.44	0.14588	N	0.222	0.24883	-1.0443	0.16030	T	0.045	0.19275	T	10	0.11832267	0.22368	T	0.005638	0.14591	T	0.022	0.04323	0.488	0.57257	0.273070737957	0.26916	0.44146774659853383	0.44063	0.322355995525	0.34426	0.337416678667	0.16051	T	0.29603	0.66867	T	-0.319345	0.06951	T	-0.599639	0.12841	T	0.0964614748954773	0.11963	T	0.533947	0.17813	T	0.08122326	0.18651	0.06800228	0.14142	0.08122326	0.18651	0.06800228	0.14142	-4.155	0.26097	T	.	.	0.086	0.10449	B	.	.	0.656839	0.10255	6.988	0.89614279328242796	0.18949	0.04142	0.09627	N	AEDBI	0.125550	0.24211	N	-0.808892895158018	0.13082	0.6420493	-0.828621247264554	0.13803	0.7179937	0.999689154976683	0.41756	0.493124	0.18060	0	0.587265	0.34161	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.44	-1.51	0.08207	-0.758000	0.04872	0.210000	0.15951	0.756000	0.94297	0.001000	0.13787	0.083000	0.22416	0.989000	0.64315	0.2677:0.3325:0.3998:0.0	6.605	0.21912	239	0.90673	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2669.98	33	chr2	135822058	.	A	C	2669.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.95;DP=928;ExcessHet=0.0000;FS=3.608;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.22;ReadPosRankSum=-1.580e-01;SOR=0.735	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1145	20	0	1	0
chr2	135836998	135836998	C	T	exonic	LCT	.	nonsynonymous SNV	LCT:NM_002299:exon1:c.G172A:p.D58N,	Lactase deficiency, congenital, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	1461019	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.0	B	0.671	N	1.000	N	0.345	N	1.73	T	-1.014	T	0.026	T	0.036	-0.144	3.296	-2.83	-0.412	-1.727	1.411	0.080	0.00862323148733	.	.	2.473e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs762559183	2.736e-05	2.736e-05	1.089e-05	4.4e-05	0.0004	2.062e-05	1.816e-05	0.0003	0.0003	0	0	0	0	0	0	0	3.312e-05	0.0004	3.946e-05	3.941e-05	1.285e-05	6.732e-05	0.0012	1.717e-05	1.13e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.642	0.04972	T	0.344	0.17804	T	0.0	0.02946	B	0.0	0.01387	B	0.670513	0.10346	N	0.846349	1	0.08975	N	1.1	0.28011	L	1.73	0.26445	T	-0.26	0.11185	N	0.096	0.07673	-1.0145	0.25497	T	0.026	0.11309	T	10	0.05455911	0.05828	T	0.008623	0.22779	T	0.080	0.23350	0.662	0.79996	0.194818534648	0.19098	0.3087541805073596	0.30788	0.22430122532	0.24958	0.339257121086	0.16327	T	0.240455	0.60878	T	-0.571608	0.00216	T	-0.758528	0.03166	T	0.990036249160767	0.80250	D	0.555844	0.19272	T	0.07193877	0.15964	0.058372986	0.10776	0.07193877	0.15963	0.058372986	0.10776	-3.591	0.17727	T	.	.	0.068	0.02927	B	.	.	0.218021	0.06006	2.448	0.82058948508978791	0.13997	0.03841	0.09191	N	AEFI	0.070527	0.14003	N	-1.13184684747857	0.06084	0.279118	-1.16923419938186	0.06429	0.3094556	0.274296468981257	0.18924	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.16	-2.83	0.05425	-1.347000	0.02739	-1.423000	0.05475	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.038000	0.14061	0.2124:0.3521:0.1047:0.3307	1.411	0.02154	230	0.91032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	4035.98	43	chr2	135836998	.	C	T	4035.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.72;DP=1064;ExcessHet=0.0000;FS=0.828;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.12;ReadPosRankSum=1.66;SOR=0.735	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1283	20	0	1	0
chr2	135840873	135840873	A	G	exonic	MCM6	.	nonsynonymous SNV	MCM6:NM_005915:exon17:c.T2428C:p.Y810H,	Lactase persistence/nonpersistence, Autosomal dominant	.	0	1502	16	4	0	24	0.00792602	.	.	970197	not_specified|Lactase_persistence	MedGen:CN169374|MedGen:C1857231	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.08	T	0.628	P	0.773	P	0.001	D	0.984	D	1.67	L	4.05	T	-1.143	T	0.031	T	0.395	3.331	17.21	5.25	2.106	5.034	15.111	0.170	0.00816845344271	0.0002	0.000599042	0.0002	0.0002	0.0004	0	0	0.0002	0.0011	0.0004	0.0002652	41	154602	rs55660827	0.0008	0.0008	0.0008	0.0008	0.1335	0.0007	0.0007	0.1257	0.1226	0.0024	0.0005	0	0	0	0.1335	6.116e-05	0.0025	0.0004	0.0006	0.0006	0.0006	0.0006	0.0026	0.0005	0.0005	0.0020	0.0017	9.618e-05	0	0.0026	0	0	0	0.1088	7.348e-05	0.0043	0.0002	0.128	0.26965	T	0.093	0.39799	T	0.628	0.40146	P	0.773	0.56974	P	0.000581	0.43095	D	0.210963	0.984289	0.40125	D	2.105	0.58435	M	4.05	0.03092	T	-2.21	0.49684	N	0.338	0.37923	-1.1426	0.01264	T	0.031	0.13374	T	10	0.03318864	0.01488	T	0.008168	0.21649	T	0.170	0.43303	.	.	0.363336886782	0.35939	0.5377150212763859	0.53696	0.657411678916	0.58695	0.728210806847	0.71246	T	0.24235	0.61107	T	-0.349618	0.04751	T	-0.423823	0.30638	T	0.0947053454181062	0.11764	T	0.960604	0.85218	D	0.25625196	0.48663	0.12922642	0.31075	0.25625196	0.48663	0.12922642	0.31074	-8.275	0.62928	D	.	.	0.194	0.41418	B	.	.	4.234975	0.64158	24.7	0.99772253282477041	0.86003	0.90224	0.51232	D	AEFDGBHIJ	0.588732	0.58588	D	0.420798480619193	0.62566	4.474676	0.449949719781267	0.64711	4.732958	0.999999963291514	0.74766	0.75658	0.98901	0	0.696144	0.67643	0	0.702456	0.68683	0	0.656636	0.63459	0	.	.	5.25	5.25	0.73169	5.130000	0.64587	11.163000	0.87713	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	15.111	0.72032	226	0.91233	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1235.98	34	chr2	135840873	.	A	G	1235.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.213;DP=818;ExcessHet=0.0000;FS=1.464;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=0.453;SOR=0.567	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1261	20	0	1	0
chr2	137056711	137056711	G	T	exonic	THSD7B	.	nonsynonymous SNV	THSD7B:NM_001316349:exon3:c.G431T:p.R144L,	.	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.696	P	0.22	B	0.066	N	0.998	N	1.67	L	1.89	T	-0.876	T	0.114	T	0.426	2.248	13.48	-4.4	-1.010	-0.173	11.541	0.164	0.0293832748762	0.0002	0.000998403	0.0009	0	0	0	0	0.0003	0.0022	0.0053	0.0007956	123	154602	rs147127072	0.0005	0.0005	0.0003	0.0006	0.0047	0.0004	0.0004	0.0043	0.0042	0	0.0001	3.826e-05	0	3.745e-05	0.0014	0.0002	0.0008	0.0047	0.0002	0.0002	0.0001	0.0003	0.0046	0.0001	0.0001	0.0031	0.0026	2.407e-05	0	0	0	0	0	0	8.82e-05	0	0.0046	0.658	0.04772	T	0.456	0.13403	T	0.474	0.36620	P	0.22	0.37792	B	0.065785	0.21855	N	0.563993	0.998226	0.22281	N	.	.	.	0.24	0.59583	T	-1.49	0.36385	N	0.266	0.42247	-0.8758	0.50090	T	0.114	0.40627	T	10	0.012000591	0.00260	T	0.029383	0.51906	D	0.164	0.42212	.	.	0.130388298395	0.12655	0.5454276543799753	0.54468	0.599866105322	0.55088	0.229598790407	0.01938	T	0.029984	0.23505	T	-0.435596	0.01373	T	-0.396837	0.33751	T	0.0232207487730708	0.01050	T	0.582642	0.29103	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.28027	B	.;.;.	.;.;.	0.169364	0.05586	2.041	0.95669300730307494	0.27511	0.12580	0.17355	N	AEFDCI	0.138269	0.25951	N	-0.933410484128226	0.10068	0.4793741	-1.00026396637233	0.09780	0.4885643	3.10374162427468E-5	0.03498	0.533608	0.22052	0	0.573888	0.26702	0	0.685742	0.62368	0	0.503917	0.08554	0	.	.	6.07	-4.4	0.03349	-0.165000	0.09957	-1.048000	0.06492	-0.272000	0.06708	0.003000	0.16062	0.000000	0.08366	0.918000	0.45347	0.635:0.0947:0.2703:0.0	11.541	0.49920	901	0.24189	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3418.98	37	chr2	137056711	.	G	T	3418.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=1204;ExcessHet=0.0000;FS=1.036;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.26;ReadPosRankSum=-4.950e-01;SOR=0.596	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1204	20	0	1	0
chr2	137663518	137663518	G	A	exonic	THSD7B	.	nonsynonymous SNV	THSD7B:NM_001316349:exon26:c.G4594A:p.V1532M,	.	.	431	1082	9	0	0	9	0.00414174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.96	D	0.599	P	0.006	N	1.000	D	1.39	L	2.36	T	-1.116	T	0.071	T	0.577	3.104	16.37	5.1	1.465	3.371	9.938	0.151	0.00526817969914	.	0.000199681	0.0004	0	0	0	0	0	0.0035	0.0022	0.0002005	31	154602	rs571404522	0.0001	0.0001	5.597e-05	0.0002	0.0019	9.844e-05	9.258e-05	0.0016	0.0016	0	0	0	0	0	0	0	6.641e-05	0.0019	9.849e-05	9.843e-05	2.569e-05	0.0002	0.0031	6.002e-05	4.876e-05	0.0019	0.0015	0	0	0	0	0	0	0	0	0	0.0031	0.085	0.32769	T	0.103	0.38305	T	.	.	.	.	.	.	0.006197	0.32207	N	0.328023	0.919821	0.27319	N	.	.	.	2.36	0.16089	T	-0.52	0.16187	N	0.189	0.22486	-1.1159	0.02608	T	0.071	0.28904	T	10	0.011755884	0.00256	T	0.005268	0.13464	T	0.151	0.39764	.	.	0.445711490874	0.44190	0.2717668069209804	0.27089	0.138909275846	0.15665	0.478206723928	0.35809	T	0.019616	0.15597	T	-0.448569	0.01152	T	-0.423591	0.30665	T	0.145036857989048	0.16701	T	0.737326	0.35372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.31100	B	.;.;.	.;.;.	3.326903	0.45779	22.2	0.99781261104003049	0.86780	0.93323	0.57910	D	AEFI	.	.	.	0.217313461785539	0.52039	3.380629	0.274821124261005	0.54072	3.573506	0.00377180938983097	0.10274	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.01	5.1	0.68917	3.461000	0.52800	6.638000	0.56174	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0758:0.1355:0.7887:0.0	9.938	0.40733	911	0.21964	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1514.98	36	chr2	137663518	.	G	A	1514.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.616;DP=956;ExcessHet=0.0000;FS=2.071;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=-1.250e-01;SOR=0.522	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	20	0	1	0
chr2	138013810	138013810	G	A	exonic	HNMT	.	nonsynonymous SNV	HNMT:NM_006895:exon6:c.G559A:p.G187R,	Mental retardation, autosomal recessive 51, Autosomal recessive	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.081	B	0.031	B	0.000	N	1.000	D	1.145	L	2.61	T	-1.092	T	0.029	T	0.265	-0.792	0.698	4.15	0.830	2.167	16.719	0.055	0.00482948824751	7.7e-05	0.000199681	0.0001	9.718e-05	0	0	0	7.589e-05	0	0.0004	9.06e-05	14	154602	rs199520450	4.654e-05	4.652e-05	3.133e-05	6.192e-05	0.0014	3.73e-05	3.413e-05	0.0007	0.0005	2.99e-05	2.242e-05	0	0	1.875e-05	0.0014	8.996e-06	6.629e-05	0.0005	3.941e-05	3.938e-05	1.285e-05	6.718e-05	0.0004	1.715e-05	1.129e-05	7.293e-05	3.03e-05	4.813e-05	0	0	0	0	0	0	2.941e-05	0	0.0004	1.0	0.00964	T	0.915	0.02917	T	0.081	0.24602	B	0.031	0.21939	B	0.000050	0.53742	N	0.194048	0.99848	0.44980	D	1.28	0.32218	L	2.61	0.13095	T	-1.35	0.33598	N	0.117	0.10626	-1.0924	0.05144	T	0.029	0.12453	T	10	0.03393501	0.01584	T	0.004829	0.12098	T	0.055	0.15663	0.36	0.36385	0.284150004643	0.28039	0.5777252884088404	0.57701	0.0789299545713	0.08879	0.320475161076	0.13493	T	0.056716	0.30365	T	-0.452543	0.01091	T	-0.557822	0.16581	T	0.0142485460653525	0.00282	T	0.762724	0.38847	T	0.43901357	0.63339	0.23710495	0.48999	0.43901357	0.63339	0.23710495	0.48998	-3.32	0.13997	T	0.1722879152880734	0.21766	0.097	0.15877	B	.;.	.;.	0.695303	0.10640	7.340	0.070746166561508519	0.00035	0.84878	0.43971	D	AEFDBIJ	0.698435	0.65611	D	-0.496305921286047	0.22201	1.183801	-0.385817188083915	0.25419	1.397763	0.999977661429066	0.50053	0.675385	0.55134	0	0.573888	0.26702	0	0.653264	0.51672	0	0.525792	0.08840	0	.	.	5.98	4.15	0.47978	2.221000	0.42559	1.290000	0.25406	-0.165000	0.11486	0.956000	0.33378	0.026000	0.21063	0.036000	0.13842	0.0:0.2442:0.7558:0.0	16.719	0.85263	877	0.30165	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1260.98	33	chr2	138013810	.	G	A	1260.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.59;DP=778;ExcessHet=0.0000;FS=3.036;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.86;ReadPosRankSum=1.47;SOR=0.417	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1450	20	0	1	0
chr2	140297882	140297882	G	C	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon84:c.C12893G:p.T4298S,	.	.	424	1084	14	0	0	14	0.00641613	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.000	N	0.998	N	1.25	L	-2.84	D	-0.685	T	0.555	D	0.215	1.887	12.27	4.22	0.830	3.359	16.953	0.032	.	0.0010	0.00299521	0.0034	0.0003	0.0003	0.0001	0.0005	0.0012	0.0055	0.0190	0.0028137	435	154602	rs139037100	0.0017	0.0017	0.0011	0.0023	0.0184	0.0017	0.0016	0.0177	0.0174	0.0001	0.0004	0	5.038e-05	0.0009	0.0106	0.0006	0.0019	0.0184	0.0012	0.0012	0.0008	0.0017	0.0178	0.0011	0.0010	0.0148	0.0136	0.0001	0	0.0005	0	0	0.0008	0.0374	0.0009	0.0019	0.0178	0.442	0.09209	T	0.284	0.21411	T	0.0	0.02946	B	0.001	0.04355	B	0.000109	0.50451	N	0.130013	0.998452	0.22144	N	0.815	0.20815	L	-2.84	0.91305	D	-0.22	0.10480	N	0.28	0.31702	-0.6855	0.61118	T	0.555	0.83724	D	10	0.015747458	0.00331	T	.	.	.	0.195	0.47612	0.649	0.78648	0.218628672733	0.21463	0.1679552820358811	0.16715	0.285637648244	0.30974	0.330537110567	0.15016	T	0.084294	0.37246	T	-0.383137	0.02976	T	-0.308189	0.43852	T	0.0083881208771369	0.00101	T	0.667933	0.27701	T	0.042513836	0.06460	0.07768738	0.17330	0.042513836	0.06460	0.07768738	0.17330	-4.086	0.25083	T	.	.	0.064	0.01645	B	.	.	2.420397	0.31122	18.65	0.95688805439664215	0.27562	0.92811	0.56603	D	AEFI	0.366072	0.45402	N	-0.362405289579466	0.26820	1.466643	-0.174002716665161	0.32495	1.849358	0.00102793260765266	0.08137	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	6.08	4.22	0.49153	3.451000	0.52727	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.2653:0.7347:0.0	16.953	0.86120	927	0.17636	EGF-like domain|EGF-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2055.11	33	chr2	140297882	.	G	C	2055.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.66;DP=872;ExcessHet=0.1072;FS=0.504;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.47;ReadPosRankSum=-1.480e-01;SOR=0.630	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1386	19	0	2	0
chr2	140334515	140334515	T	G	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon79:c.A12161C:p.E4054A,	.	.	432	1074	14	2	0	18	0.00831025	.	.	732776	not_provided|LRP1B-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.53	T	0.76	P	0.484	P	0.000	D	0.983	D	0.805	L	-3.68	D	-0.904	T	0.127	T	0.513	3.603	18.34	6.08	2.333	5.776	12.491	0.206	0.0422532623378	0.0045	0.00219649	0.0035	0.0020	0.0022	0.0001	0.0011	0.0048	0.0035	0.0024	0.0034993	541	154602	rs79879036	0.0047	0.0048	0.0048	0.0047	0.0149	0.0046	0.0046	0.0124	0.0114	0.0019	0.0025	0.0151	0.0005	0.0010	0.0149	0.0051	0.0055	0.0024	0.0037	0.0037	0.0037	0.0037	0.0060	0.0035	0.0034	0.0050	0.0047	0.0017	0.0055	0.0060	0.0153	0.0004	0.0011	0.0068	0.0045	0.0057	0.0027	0.736	0.03741	T	0.224	0.25591	T	0.76	0.43524	P	0.484	0.47189	P	0.000008	0.62929	D	0.062767	0.983277	0.39994	D	0.695	0.17993	N	-3.68	0.95282	D	-0.33	0.12472	N	0.578	0.59986	-0.9041	0.47550	T	0.127	0.43442	T	10	0.009902418	0.00222	T	0.042253	0.60367	D	0.465	0.76089	.	.	0.268702046668	0.26493	0.774075906437719	0.77357	0.507590868077	0.48939	0.605115115643	0.53626	T	0.287376	0.66017	T	-0.187374	0.22644	T	-0.040421	0.67673	D	0.0300023271018627	0.01990	T	0.781022	0.41604	T	0.07963886	0.18206	0.06470844	0.13009	0.07963886	0.18205	0.06470844	0.13008	-9.669	0.71907	D	.	.	0.412	0.60259	A	.	.	3.469678	0.48398	22.6	0.98221350340564839	0.39307	0.96639	0.70156	D	AEFI	0.691520	0.65149	D	0.295540001995611	0.55922	3.756348	0.42177134061413	0.62922	4.51631	0.411530896176104	0.20216	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.08	6.08	0.98982	5.757000	0.68422	.	.	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:0.1392:0.8608	12.491	0.55242	918	0.19598	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1981.98	33	chr2	140334515	.	T	G	1981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.080e-01;DP=855;ExcessHet=0.0000;FS=2.721;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=1.22;SOR=0.681	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1088	20	0	1	0
chr2	140350873	140350873	G	C	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon77:c.C11816G:p.T3939S,	.	.	427	1091	4	0	0	4	0.00182983	.	.	3195795	LRP1B-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.51	T	0.997	D	0.97	D	0.000	D	0.999	D	1.78	L	-2.59	D	0.362	D	0.770	D	0.481	3.516	17.96	5.48	2.733	9.275	19.706	0.319	0.104830791566	7.7e-05	.	0.0002	0	8.72e-05	0	0	0.0002	0.0011	0.0002	0.0001552	24	154602	rs139778530	0.0001	0.0001	0.0001	0.0002	0.0019	0.0001	0.0001	0.0011	0.0008	0	8.968e-05	0.0018	0	0	0.0019	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	9.166e-05	7.718e-05	7.922e-05	6.004e-05	0	0	0.0001	0.0020	0	0	0.0034	0.0001	0.0005	0	0.204	0.20078	T	0.02	0.58613	D	0.997	0.70673	D	0.97	0.72226	D	0.000007	0.62929	D	0.062786	0.999472	0.47197	D	1.04	0.26193	L	-2.59	0.89822	D	-1.61	0.38734	N	0.639	0.65159	0.362	0.88522	D	0.770	0.92167	D	10	0.31495744	0.48932	T	0.104831	0.77961	D	0.538	0.80664	0.341	0.33302	0.518394417877	0.51483	0.5709547180018515	0.57023	0.285637648244	0.30974	0.695107460022	0.66439	T	0.137612	0.47065	T	-0.0611485	0.42727	T	-0.0889435	0.64242	T	0.131688339656085	0.15538	T	0.814918	0.46941	T	0.16915274	0.37415	0.21505639	0.46079	0.16915274	0.37415	0.21505639	0.46079	-3.3	0.13737	T	.	.	0.335	0.55555	B	.	.	3.454578	0.48119	22.6	0.99079100969382783	0.51930	0.99146	0.91905	D	AEFI	0.930685	0.91837	D	0.747453104110559	0.82739	7.837528	0.765358833088256	0.87300	9.174648	0.999999152934207	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.48	5.48	0.80675	9.365000	0.96546	.	.	0.669000	0.69127	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.706	0.96068	936	0.14734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1563.98	34	chr2	140350873	.	G	C	1563.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.480e-01;DP=811;ExcessHet=0.0000;FS=0.649;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.12;ReadPosRankSum=-3.100e-02;SOR=0.633	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1091	20	0	1	0
chr2	140358851	140358851	C	T	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon73:c.G11227A:p.G3743S,	.	.	430	1071	21	0	0	21	0.00970874	.	.	697032	LRP1B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.3	T	1.0	D	0.998	D	0.000	U	1.000	D	1.74	L	0.29	T	-0.626	T	0.271	T	0.58	4.251	22.1	5.46	2.563	6.968	18.890	0.364	.	0.0045	0.00199681	0.0076	0.0013	0.0040	0	0.0071	0.0113	0.0044	0.0032	0.0072962	1128	154602	rs150879175	0.0078	0.0078	0.0079	0.0078	0.0091	0.0077	0.0077	0.0086	0.0086	0.0011	0.0047	0.0097	0	0.0057	0.0091	0.0088	0.0080	0.0040	0.0058	0.0059	0.0059	0.0057	0.0086	0.0055	0.0054	0.0080	0.0078	0.0018	0.0175	0.0061	0.0095	0	0.0051	0.0170	0.0086	0.0067	0.0023	0.1	0.30515	T	0.026	0.55759	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	U	0.000000	0.999998	0.58761	D	2.225	0.63025	M	0.29	0.58897	T	-3.74	0.71042	D	0.785	0.78167	-0.6265	0.63718	T	0.271	0.64287	T	10	0.020279229	0.00465	T	.	.	.	0.364	0.68407	.	.	0.437548520547	0.43377	0.742218091707543	0.74167	0.643894883578	0.57912	0.677682161331	0.63936	T	0.614866	0.87846	D	-0.318003	0.07062	T	-0.220171	0.52720	T	0.0125632009717149	0.00209	T	0.937806	0.76632	D	0.46296924	0.64855	0.395204	0.64194	0.46296924	0.64856	0.395204	0.64194	-6.395	0.49471	T	.	.	0.205	0.43032	B	.	.	4.004765	0.59035	24.1	0.99757863771458	0.84772	0.98990	0.89628	D	AEFI	0.867069	0.78671	D	0.59363715963284	0.72776	5.859329	0.561653421101137	0.72213	5.774325	0.999984126455935	0.51787	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	7.067000	0.76435	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.580000	0.30894	0.0:1.0:0.0:0.0	18.890	0.92370	919	0.19497	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2142.98	34	chr2	140358851	.	C	T	2142.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.670e-01;DP=926;ExcessHet=0.0000;FS=0.497;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.83;ReadPosRankSum=-9.780e-01;SOR=0.638	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1432	20	0	1	0
chr2	140541066	140541066	C	T	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon45:c.G7420A:p.G2474S,	.	.	430	1082	10	0	0	10	0.00459982	.	.	697034	LRP1B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.998	D	0.000	D	1.000	D	3.765	H	-2.69	D	0.842	D	0.877	D	0.899	6.102	37	6.03	2.861	7.697	20.557	0.807	.	0.0065	0.00479233	0.0058	0.0005	0.0049	0	0.0020	0.0088	0.0066	0.0025	0.0060219	931	154602	rs146867394	0.0082	0.0082	0.0082	0.0081	0.0097	0.0080	0.0080	0.0095	0.0095	0.0012	0.0050	0.0030	0	0.0026	0.0063	0.0097	0.0068	0.0026	0.0056	0.0056	0.0060	0.0052	0.0090	0.0053	0.0052	0.0085	0.0082	0.0019	0.0022	0.0068	0.0032	0	0.0016	0.0068	0.0090	0.0085	0.0023	0.005	0.63226	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.29	0.90338	M	-2.69	0.90451	D	-4.44	0.77637	D	0.926	0.93018	0.842	0.94924	D	0.877	0.95904	D	10	0.017781049	0.00382	T	.	.	.	0.807	0.93738	.	.	0.703065460672	0.70048	0.8346657589535204	0.83425	0.639488793446	0.57616	0.535619258881	0.43827	T	0.621635	0.88148	D	0.102665	0.64579	D	0.38409	0.91575	D	0.0368512561054357	0.03130	T	0.961204	0.85427	D	0.53969353	0.69379	0.50273013	0.71255	0.53969353	0.69380	0.50273013	0.71255	-8.775	0.66237	D	.	.	0.197	0.41947	B	.	.	4.071434	0.60497	24.2	0.99841355978358481	0.92143	0.98894	0.88280	D	AEFI	0.923609	0.90034	D	1.0511882824069	0.97117	15.61569	0.986079722276813	0.98339	18.01304	0.999999999121817	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.03	6.03	0.97798	7.784000	0.84325	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.869000	0.41347	0.0:1.0:0.0:0.0	20.557	0.99307	923	0.18507	EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	959.98	34	chr2	140541066	.	C	T	959.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=875;ExcessHet=0.0000;FS=0.861;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=-2.398e+00;SOR=0.890	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	20	0	1	0
chr2	140700613	140700613	C	A	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon41:c.G6436T:p.V2146F,	.	.	441	1053	27	1	0	29	0.0135831	.	.	719267	LRP1B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.01	D	0.077	B	0.034	B	0.002	U	1.000	D	1.455	L	-3.75	D	0.090	D	0.656	D	0.313	2.618	14.72	1.62	0.426	0.111	7.738	0.294	.	0.0017	0.00339457	0.0035	9.731e-05	0.0020	0	0.0005	0.0030	0.0055	0.0114	0.0031112	481	154602	rs145744070	0.0029	0.0029	0.0024	0.0033	0.0137	0.0028	0.0028	0.0130	0.0128	0.0004	0.0018	0.0101	5.042e-05	0.0006	0.0127	0.0021	0.0033	0.0137	0.0021	0.0021	0.0019	0.0023	0.0106	0.0019	0.0018	0.0083	0.0074	0.0003	0	0.0024	0.0092	0	0.0004	0.0136	0.0025	0.0043	0.0106	0.033	0.44358	D	0.015	0.61642	D	0.077	0.24313	B	0.034	0.22546	B	0.001916	0.37691	U	0.177257	0.999982	0.54805	D	0.75	0.19020	N	-3.75	0.95528	D	-3.02	0.62630	D	0.322	0.36254	0.090	0.83987	D	0.656	0.88050	D	10	0.01934126	0.00431	T	.	.	.	0.294	0.61388	.	.	0.289027227714	0.28505	0.6134016044301749	0.61272	0.250177817609	0.27598	0.353197097778	0.18392	T	0.565857	0.85545	D	-0.264991	0.12321	T	-0.142386	0.59910	T	0.029764845525991	0.01953	T	0.963604	0.86445	D	0.1786296	0.38893	0.16508277	0.38209	0.1786296	0.38893	0.16508277	0.38208	-6.738	0.52096	T	.	.	0.113	0.22391	B	.	.	1.773667	0.22555	15.67	0.98923734901163618	0.48602	0.76164	0.37334	D	AEFDI	0.259673	0.37797	N	-0.467575922367074	0.23148	1.241068	-0.372939358601287	0.25807	1.421501	1.72389479226269E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	4.47	1.62	0.22817	0.139000	0.15858	.	.	-0.249000	0.07183	0.968000	0.34134	0.756000	0.26587	0.958000	0.51230	0.0:0.5814:0.0:0.4186	7.738	0.27988	945	0.12563	EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1177.98	40	chr2	140700613	.	C	A	1177.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.950e-01;DP=856;ExcessHet=0.0000;FS=1.862;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.02;ReadPosRankSum=0.516;SOR=0.922	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	20	0	1	0
chr2	140850299	140850299	C	T	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon29:c.G4742A:p.R1581H,	.	.	.	.	.	.	.	.	.	.	.	3195703	LRP1B-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.997	D	0.927	D	0.000	U	0.993	D	1.76	L	1.47	T	0.277	D	0.642	D	0.374	2.543	14.46	2.73	0.283	0.493	8.676	0.214	0.0356115745632	0.0006	0.00219649	0.0003	0.0028	0.0003	0	0	3.196e-05	0	6.252e-05	0.0003105	48	154602	rs148341635	0.0001	0.0001	0.0001	0.0001	0.0037	0.0001	0.0001	0.0032	0.0029	0.0037	0.0001	0	0	0	0.0003	1.625e-05	0.0003	0.0001	0.0008	0.0008	0.0008	0.0008	0.0027	0.0007	0.0006	0.0023	0.0021	0.0027	0	0.0005	0	0	0	0	2.941e-05	0.0009	0	0.13	0.26740	T	0.009	0.66756	D	0.001	0.07471	B	0.001	0.04355	B	0.000001	0.62929	U	0.000000	0.993077	0.41828	D	1.745	0.45235	L	-2.88	0.91533	D	-1.4	0.43334	N	0.296	0.33469	0.277	0.87189	D	0.642	0.87505	D	10	0.009855479	0.00221	T	0.035612	0.56462	D	0.214	0.50650	.	.	0.443653779002	0.43985	0.45730391293202866	0.45648	0.497612009223	0.48259	0.278869837523	0.07335	T	0.142075	0.47747	T	-0.284652	0.10181	T	-0.182497	0.56291	T	0.0484826894038194	0.05230	T	0.770523	0.40040	T	0.080588795	0.18473	0.06959398	0.14681	0.080588795	0.18473	0.06959398	0.14680	-7.605	0.58346	D	.	.	0.070	0.16929	B	.;.	.;.	2.021869	0.25697	16.85	0.98958255108365434	0.49285	0.28780	0.23646	N	AEFI	0.208630	0.33469	N	-0.423245799357377	0.24657	1.332892	-0.434309261854717	0.23998	1.311676	1.05967877847185E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.54	2.73	0.31266	0.524000	0.22648	.	.	-0.266000	0.06809	0.048000	0.21332	0.000000	0.08366	0.885000	0.42453	0.0:0.6986:0.0:0.3014	8.676	0.33338	930	0.16408	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	430.98	41	chr2	140850299	.	C	T	430.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.10;DP=746;ExcessHet=0.0000;FS=3.078;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.17;ReadPosRankSum=-5.870e-01;SOR=1.362	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1128	20	0	1	0
chr2	140994107	140994107	T	C	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon16:c.A2532G:p.I844M,	.	.	427	1063	30	2	0	34	0.0157407	.	.	697039	not_provided|LRP1B-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.26	T	0.001	B	0.003	B	0.847	N	1.000	N	0	N	-2.83	D	-0.736	T	0.362	T	0.129	2.060	12.85	-6.16	-0.880	-0.470	2.222	0.195	.	0.0028	0.0117812	0.0063	0.0007	0.0021	0.0001	0	0.0024	0.0077	0.0341	0.0058343	902	154602	rs147402550	0.0049	0.0049	0.0040	0.0059	0.0345	0.0048	0.0048	0.0335	0.0331	0.0007	0.0016	0.0007	0.0001	0.0001	0.0096	0.0033	0.0054	0.0345	0.0028	0.0028	0.0025	0.0031	0.0371	0.0026	0.0025	0.0327	0.0310	0.0007	0	0.0022	0.0009	0.0002	0	0.0034	0.0026	0.0028	0.0371	0.152	0.24468	T	0.011	0.64786	D	0.001	0.07471	B	0.003	0.08700	B	0.847102	0.07035	N	1.087950	0.999963	0.18878	N	0	0.06538	N	-2.83	0.91249	D	1.04	0.01332	N	0.099	0.08088	-0.7360	0.58658	T	0.362	0.72354	T	10	0.0046260953	0.00096	T	.	.	.	0.195	0.47612	.	.	0.182106788282	0.17826	0.11120296238086644	0.11049	0.231434023854	0.25697	0.361388236284	0.19588	T	0.082083	0.36747	T	-0.453682	0.01074	T	-0.399392	0.33455	T	0.00324615327500798	0.00034	T	0.60284	0.22604	T	0.057276886	0.11379	0.057300694	0.10391	0.057276886	0.11378	0.057300694	0.10391	-3.998	0.23774	T	.	.	0.081	0.08272	B	.	.	0.184167	0.05711	2.158	0.96061534495411727	0.28593	0.04186	0.09688	N	AEFI	0.071648	0.14272	N	-1.18149815456394	0.05280	0.2403164	-1.18537793561606	0.06153	0.2952971	0.00345728987212099	0.10124	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.76	-6.16	0.01919	-0.732000	0.05008	.	.	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.909000	0.44452	0.1881:0.173:0.4111:0.2277	2.222	0.03731	558	0.71484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2689.98	34	chr2	140994107	.	T	C	2689.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.612;DP=1051;ExcessHet=0.0000;FS=3.849;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=-4.270e-01;SOR=0.469	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1575	20	0	1	0
chr2	142885441	142885441	C	T	exonic	KYNU	.	nonsynonymous SNV	KYNU:NM_001032998:exon2:c.C74T:p.T25M	.	.	423	1087	11	1	0	13	0.00594422	.	.	707742	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.07	T	0.991	D	0.608	P	0.000	D	1.000	N	1.935	M	0.46	T	-0.706	T	0.247	T	0.446	2.004	12.66	4.97	2.584	1.633	7.948	0.191	.	7.7e-05	0.00139776	0.0021	0	0.0027	0	0	0.0003	0.0022	0.0124	0.0018111	280	154602	rs199895914	0.0010	0.0010	0.0006	0.0014	0.0128	0.0009	0.0009	0.0122	0.0119	8.963e-05	0.0011	0	2.519e-05	1.872e-05	0.0019	0.0002	0.0010	0.0128	0.0006	0.0006	0.0004	0.0008	0.0127	0.0005	0.0005	0.0101	0.0092	9.625e-05	0	0	0	0	0	0	0.0005	0.0005	0.0127	0.016	0.57480	D	0.035	0.57104	D	0.976	0.58310	D	0.5	0.47649	P	0.000385	0.44960	D	0.225320	1	0.08975	N	2.74	0.80084	M	0.46	0.64630	T	-1.97	0.48020	N	0.439	0.51137	-0.7057	0.60164	T	0.247	0.61589	T	10	0.008279264	0.00188	T	.	.	.	0.191	0.46948	.	.	0.790655237196	0.78871	0.42017046998309715	0.41933	0.0607266434557	0.06755	0.367408037186	0.20458	T	0.054891	0.29853	T	-0.338039	0.05526	T	-0.247315	0.50082	T	0.074337959309471	0.09248	T	0.735226	0.35853	T	0.10781959	0.25493	0.09831209	0.23432	0.097442456	0.22968	0.11528473	0.27828	-5.837	0.44896	T	.	.	0.108	0.25067	B	.;.;.;.;.	.;.;.;.;.	3.159454	0.42806	21.6	0.99803471985251913	0.88817	0.17750	0.19971	N	AEFBCI	0.127978	0.24556	N	0.1610350199355	0.49335	3.135126	0.0862344356662809	0.43854	2.67869	0.999994528473169	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.97	4.97	0.65419	1.673000	0.37150	3.159000	0.36559	0.599000	0.40250	0.003000	0.16062	0.202000	0.23578	0.588000	0.31090	0.1606:0.7592:0.0:0.0802	7.948	0.29159	841	0.37094	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1733.98	33	chr2	142885441	.	C	T	1733.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.599e+00;DP=848;ExcessHet=0.0000;FS=5.032;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=-1.870e-01;SOR=0.409	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1342	20	0	1	0
chr2	142960678	142960678	G	C	exonic	KYNU	.	nonsynonymous SNV	KYNU:NM_001032998:exon8:c.G637C:p.D213H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.996	D	0.912	D	0.000	D	1.000	D	2.265	M	0.44	T	-0.441	T	0.335	T	0.493	3.378	17.39	5.35	2.668	6.214	19.079	0.184	0.0146019064306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.44029	T	0.028	0.54934	D	0.025	0.19245	B	0.034	0.22546	B	0.000498	0.43931	D	0.260668	0.999998	0.58761	D	2.14	0.59869	M	0.44	0.56609	T	-4.62	0.81431	D	0.522	0.55713	-0.4414	0.70683	T	0.335	0.70166	T	10	0.5629133	0.64889	D	0.014602	0.34823	T	0.184	0.45763	0.411	0.44723	0.861392150857	0.86005	0.7965275537880769	0.79605	0.0950718801951	0.10730	0.50801217556	0.39944	T	0.636928	0.88818	D	-0.00327238	0.51204	T	-0.242477	0.50558	T	0.974040567874908	0.70344	D	0.89611	0.66687	D	0.39649847	0.60489	0.39619872	0.64267	0.39649847	0.60490	0.39619872	0.64267	-9.378	0.73160	D	0.40336162957113375	0.49482	0.186	0.47997	B	.;.;.;.	.;.;.;.	3.586120	0.50577	23.0	0.99065854293338607	0.51598	0.97781	0.77086	D	AEFBI	0.896780	0.83822	D	0.496253117918684	0.66870	5.006543	0.558985198089472	0.72026	5.745163	0.999999999307194	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.35	5.35	0.76297	7.135000	0.76878	8.593000	0.77695	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.847000	0.40026	0.0:0.0:1.0:0.0	19.079	0.93156	921	0.19240	Aminotransferase class V domain;.;Aminotransferase class V domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1111	188.92	76	chr2	142960678	.	G	C	188.92	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-6.920e-01;DP=1396;ExcessHet=0.1072;FS=223.228;InbreedingCoeff=-0.2395;MLEAC=4;MLEAF=0.222;MQ=60.00;MQRankSum=0.00;QD=0.99;ReadPosRankSum=2.43;SOR=7.522	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:63,0:63:44:.:.:0,44,1458	7	0	2	12
chr2	143947122	143947122	G	A	exonic	GTDC1	.	nonsynonymous SNV	GTDC1:NM_001376332:exon9:c.C698T:p.P233L	.	.	425	1096	1	0	0	1	0.000455996	.	.	719274	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.987	D	0.362	B	0.020	N	0.978	D	0.69	N	0.97	T	-0.501	T	0.272	T	0.391	0.733	7.895	4.12	1.525	1.080	14.964	0.124	0.0976219271323	0.0005	0.00119808	0.0011	0.0019	0.0005	0	0	0.0002	0.0044	0.0054	0.0010284	159	154602	rs140940814	0.0007	0.0007	0.0006	0.0008	0.0059	0.0007	0.0007	0.0043	0.0039	0.0016	0.0005	0	0	0	0.0059	0.0004	0.0012	0.0045	0.0007	0.0007	0.0004	0.0010	0.0048	0.0006	0.0006	0.0033	0.0028	0.0013	0	0.0007	0	0	0	0	0.0003	0.0009	0.0048	0.278	0.27426	T	0.159	0.31936	T	0.987	0.61912	D	0.362	0.43260	B	0.019770	0.27184	N	0.412177	0.977519	0.39374	D	1.1	0.28011	L	0.97	0.77964	T	-1.6	0.40274	N	0.267	0.35938	-0.5013	0.68603	T	0.272	0.64391	T	10	0.009978741	0.00224	T	0.097622	0.76804	D	0.124	0.34239	.	.	0.757620137002	0.75541	0.3934838990304448	0.39263	0.066022613777	0.07365	0.357103019953	0.18963	T	0.006974	0.06393	T	-0.336594	0.05628	T	-0.255454	0.49277	T	0.00978208352509954	0.00129	T	0.865513	0.56452	D	0.04625477	0.07711	0.061830856	0.12003	0.04625477	0.07710	0.061830856	0.12003	-7.665	0.58764	D	.	.	0.166	0.36535	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.030159	0.40590	21.2	0.8335869788779513	0.14682	0.92556	0.55989	D	AEFDGBIJ	0.373604	0.45881	N	-0.106776984391451	0.37096	2.153454	0.000505117739070221	0.39740	2.36089	0.999999871325	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.96	4.12	0.47504	1.169000	0.31480	.	.	-0.120000	0.14102	0.948000	0.32982	1.000000	0.68203	0.942000	0.48361	0.0:0.5488:0.4512:0.0	14.964	0.70832	711	0.56613	.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	829.98	39	chr2	143947122	.	G	A	829.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.18;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.54;ReadPosRankSum=-1.968e+00;SOR=0.755	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1240	20	0	1	0
chr2	144007291	144007291	T	C	exonic	GTDC1	.	nonsynonymous SNV	GTDC1:NM_001284234:exon5:c.A379G:p.S127G	.	.	434	1081	6	1	0	8	0.00368664	.	.	3259265	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.65	T	0.02	B	0.016	B	0.183	N	1.000	N	1.01	L	0.86	T	-1.022	T	0.078	T	0.193	1.930	12.41	1.6	0.413	1.544	8.652	0.017	0.00753760507508	0.0002	0.000599042	0.0003	0.0002	0.0010	0	0.0002	0.0004	0	6.072e-05	0.0003558	55	154602	rs145763899	0.0003	0.0003	0.0003	0.0003	0.0132	0.0003	0.0003	0.0108	0.0099	0.0004	0.0011	0.0007	0	0.0001	0.0132	0.0002	0.0007	8.118e-05	0.0004	0.0004	0.0004	0.0004	0.0012	0.0003	0.0003	0.0008	0.0007	0.0002	0	0.0012	0.0003	0	9.42e-05	0.0068	0.0004	0.0019	0	0.173	0.25355	T	0.374	0.29945	T	0.02	0.18235	B	0.016	0.17743	B	0.183274	0.17045	N	0.628661	1	0.08975	N	0.83	0.20963	L	0.86	0.47477	T	-0.92	0.30346	N	0.197	0.21710	-1.0225	0.22899	T	0.078	0.31012	T	10	0.011017561	0.00243	T	0.007538	0.20006	T	0.017	0.02790	.	.	0.101711395817	0.09552	0.18037522653695967	0.17956	0.0425100736559	0.04582	0.205392956734	0.00631	T	0.010273	0.09295	T	-0.493747	0.00620	T	-0.539785	0.18316	T	0.00230573723092675	0.00024	T	0.631737	0.24648	T	0.06957517	0.15253	0.056119543	0.09971	0.06957517	0.15253	0.056119543	0.09971	-4.18	0.28008	T	.	.	0.063	0.04517	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.947525	0.13235	9.736	0.87936319782472061	0.17592	0.74955	0.36681	D	AEFGI	0.103639	0.20759	N	-0.829466545072014	0.12561	0.6130462	-0.739028031851684	0.15993	0.843863	0.320770404121516	0.19382	0.693126	0.56070	0	0.659464	0.62310	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.27	1.6	0.22686	1.531000	0.35624	.	.	-0.137000	0.12594	0.991000	0.37257	0.000000	0.08366	0.873000	0.41610	0.0:0.2267:0.0:0.7733	8.652	0.33206	807	0.43470	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2674.98	35	chr2	144007291	.	T	C	2674.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.458;DP=859;ExcessHet=0.0000;FS=2.688;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.46;ReadPosRankSum=0.928;SOR=0.846	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1575	20	0	1	0
chr2	144389786	144389786	T	C	exonic	ZEB2	.	nonsynonymous SNV	ZEB2:NM_001171653:exon9:c.A3238G:p.T1080A	Mowat-Wilson syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.138	B	0.027	B	0.001	N	0.987	D	1.61	L	2.61	T	-1.009	T	0.025	T	0.064	1.984	12.59	0.468	-0.078	2.879	9.271	0.047	0.00415325106095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.859e-07	6.84e-07	0	1.38e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.25560	T	0.41	0.14544	T	0.0	0.02946	B	0.001	0.04355	B	0.000812	0.41658	N	0.291396	0.948621	0.40468	D	0.625	0.15840	N	2.6	0.13204	T	-1.12	0.28906	N	0.076	0.14480	-1.0088	0.27292	T	0.025	0.10910	T	10	0.09995562	0.18172	T	0.004153	0.09963	T	0.047	0.12962	0.272	0.22210	0.223474106383	0.21959	0.6696872925824003	0.66906	1.30625617506	0.83127	0.489008456469	0.37300	T	0.024128	0.70531	T	-0.323838	0.06589	T	-0.702948	0.05667	T	0.0774680803348978	0.09660	T	0.760524	0.38496	T	0.032101892	0.03173	0.04237015	0.05031	0.032101892	0.03173	0.04237015	0.05030	-3.008	0.10267	T	0.27334676399570457	0.36736	0.083	0.08997	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	1.747382	0.22230	15.54	0.93842632809085258	0.23836	0.91507	0.53676	D	AEFDBHCIJ	0.332144	0.43165	N	-0.554701027854614	0.20337	1.071319	-0.429304788515375	0.24142	1.320357	0.999983013626021	0.51787	0.706548	0.73137	0	0.670034	0.63936	0	0.666236	0.60216	0	0.714379	0.83352	0	.	.	5.51	0.468	0.15943	2.348000	0.43701	-0.263000	0.10410	-0.186000	0.09761	1.000000	0.71638	0.434000	0.24870	0.984000	0.60418	0.0:0.2771:0.0:0.7229	9.271	0.36833	839	0.37672	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1105.98	33	chr2	144389786	.	T	C	1105.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.525;DP=811;ExcessHet=0.0000;FS=0.746;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.17;ReadPosRankSum=-1.620e-01;SOR=0.610	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1194	20	0	1	0
chr2	144398984	144398984	G	A	exonic	ZEB2	.	nonsynonymous SNV	ZEB2:NM_001171653:exon7:c.C2131T:p.P711S	Mowat-Wilson syndrome, Autosomal dominant	.	0	1516	6	0	0	6	0.00197498	.	.	101527	not_specified|Mowat-Wilson_syndrome|Inborn_genetic_diseases	MedGen:CN169374|MONDO:MONDO:0009341,MedGen:C1856113,OMIM:235730,Orphanet:2152|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.76	T	0.003	B	0.003	B	0.000	D	0.999	D	0.06	N	2.65	T	-1.014	T	0.018	T	0.195	-1.022	0.230	5.04	2.508	4.815	12.160	0.070	.	.	0.00698882	0.0027	9.615e-05	0.0003	0.0001	0	0	0.0022	0.0193	0.0023997	371	154602	rs144154908	0.0012	0.0012	0.0007	0.0017	0.0195	0.0012	0.0012	0.0187	0.0184	5.974e-05	0	0	0	0	0.0012	9.892e-06	0.0014	0.0195	0.0008	0.0008	0.0004	0.0011	0.0241	0.0007	0.0006	0.0205	0.0192	0	0	0	0	0.0002	0	0	0	0	0.0241	0.528	0.07071	T	0.835	0.03674	T	0.001	0.07471	B	0.001	0.04355	B	0.000125	0.49741	D	0.214829	0.999099	0.46054	D	0.46	0.12951	N	2.63	0.12884	T	-0.65	0.18877	N	0.179	0.24260	-1.0138	0.25720	T	0.018	0.07234	T	10	0.004328251	0.00087	T	.	.	.	0.070	0.20419	0.099	0.01433	0.102598925029	0.09809	0.3356665413410724	0.33479	0.708724842934	0.61571	0.646319746971	0.59463	T	0.013473	0.70218	T	-0.578262	0.00198	T	-0.587815	0.13856	T	0.00951147977409587	0.00123	T	0.860314	0.55914	D	0.03296242	0.03421	0.045609538	0.06176	0.030580059	0.02747	0.048962634	0.07382	-3.053	0.10763	T	0.26860644848517057	0.36170	0.107	0.28948	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	2.051376	0.26077	16.99	0.48451819646568167	0.04044	0.93404	0.58127	D	AEFBCI	0.781181	0.71284	D	-0.242673255659775	0.31396	1.760063	-0.00163318454476123	0.39643	2.353571	0.999999970156495	0.74766	0.706548	0.73137	0	0.610034	0.51514	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	5.04	5.04	0.67293	4.896000	0.62911	7.696000	0.66036	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0786:0.0:0.9214:0.0	12.160	0.53406	818	0.41518	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1252.98	35	chr2	144398984	.	G	A	1252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=931;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-1.078e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1521	20	0	1	0
chr2	148489771	148489771	G	A	exonic	MBD5	.	nonsynonymous SNV	MBD5:NM_001378120:exon11:c.G4139A:p.R1380Q	Mental retardation, autosomal dominant 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	201237	not_provided|Intellectual_disability,_autosomal_dominant_1	MedGen:C3661900|MONDO:MONDO:0007974,MedGen:C1969562,OMIM:156200,Orphanet:228402	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.998	D	0.852	P	0.000	D	0.681	D	0.695	N	0.85	T	-0.647	T	0.182	T	0.726	3.755	19.06	5.55	2.894	8.220	19.698	0.289	0.0142711577052	7.7e-05	.	8.246e-06	0	0	0	0	1.498e-05	0	0	1.94e-05	3	154602	rs368605084	5.951e-05	5.951e-05	6.398e-05	5.5e-05	7.374e-05	4.882e-05	4.561e-05	6.059e-05	5.568e-05	5.974e-05	4.472e-05	0	0	0	0	7.374e-05	1.656e-05	0	5.259e-05	5.254e-05	8.996e-05	1.346e-05	0.0001	2.558e-05	1.831e-05	4.765e-05	3.339e-05	2.415e-05	0	0	0	0	0	0	0.0001	0	0	0.007	0.65419	D	0.065	0.44702	T	0.994	0.73220	D	0.795	0.60758	P	0.000052	0.53742	D	0.000000	0.680516	0.33229	D	0.975	0.24501	L	0.85	0.47815	T	-0.06	0.13035	N	0.466	0.53357	-0.6467	0.62857	T	0.182	0.53041	T	10	0.3197819	0.49360	T	0.014271	0.34274	T	0.289	0.60808	.	.	0.369524611565	0.36568	0.35354009091031025	0.35268	0.180814215642	0.20334	0.551516890526	0.46071	T	0.021771	0.16896	T	-0.0680683	0.41635	T	-0.154024	0.58887	T	0.213599008840841	0.21140	T	0.929107	0.73907	D	0.17577864	0.38455	0.13728413	0.32819	0.17577864	0.38455	0.13728413	0.32818	-2.961	0.09767	T	.	.	0.133	0.29477	B	.;.;.;.	.;.;.;.	3.730385	0.53359	23.4	0.99930455779662464	0.99334	0.99445	0.96118	D	AEFDGBI	0.668515	0.63627	D	0.68533199701171	0.78670	6.918821	0.743830051471863	0.85694	8.658044	0.999991029459613	0.74766	0.740787	0.97801	0	0.633656	0.55848	0	0.767554	0.98243	0	0.491896	0.07777	0	.	.	5.55	5.55	0.83298	5.613000	0.67369	9.999000	0.83031	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.698	0.96034	649	0.63102	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2619.98	34	chr2	148489771	.	G	A	2619.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.962;DP=985;ExcessHet=0.0000;FS=1.616;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=-2.480e-01;SOR=0.582	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr2	149582194	149582194	T	G	exonic	MMADHC	.	nonsynonymous SNV	MMADHC:NM_015702:exon3:c.A87C:p.K29N,	Homocystinuria, cblD type, variant 1, Autosomal recessive;Methylmalonic aciduria and homocystinuria, cblD type, Autosomal recessive;Methylmalonic aciduria, cblD type, variant 2, Autosomal recessive	.	1	1507	14	0	0	14	0.00462351	.	.	284564	not_specified|not_provided|Methylmalonic_aciduria_and_homocystinuria_type_cblD|Disorders_of_Intracellular_Cobalamin_Metabolism	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010185,MedGen:C1848552,OMIM:277410,Orphanet:622,Orphanet:79283|MedGen:CN043592	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.21	B	0.213	B	0.001	D	0.999	N	1.085	L	-2.41	D	-0.389	T	0.371	T	0.048	2.829	15.42	4.7	1.876	1.321	7.511	0.327	.	0.0083	0.00559105	0.0088	0.0018	0.0064	0	0.0173	0.0122	0.0121	0.0021	0.0086092	1331	154602	rs61750442	0.0096	0.0096	0.0099	0.0093	0.0107	0.0095	0.0094	0.0106	0.0105	0.0018	0.0067	0.0022	0	0.0176	0.0035	0.0107	0.0091	0.0023	0.0074	0.0074	0.0069	0.0079	0.0105	0.0070	0.0069	0.0098	0.0096	0.0019	0	0.0081	0.0017	0	0.0167	0	0.0105	0.0104	0.0017	0.006	0.65419	D	0.004	0.76473	D	0.14	0.29968	B	0.213	0.37437	B	0.000624	0.42799	D	0.258524	0.999375	0.21289	N	1.52	0.38360	L	-2.41	0.88533	D	-1.34	0.33401	N	0.56	0.59901	-0.3885	0.72389	T	0.371	0.72993	T	10	0.010101467	0.00226	T	.	.	.	0.327	0.64926	0.613	0.74652	0.771221540755	0.76912	0.37686213649392164	0.37601	0.0648658095776	0.07242	0.326800614595	0.14451	T	0.315313	0.74842	T	-0.437537	0.01337	T	-0.388295	0.34751	T	0.0194967862203156	0.00653	T	0.844815	0.53849	T	0.13332705	0.31015	0.0991525	0.23663	0.13224386	0.30799	0.0991525	0.23662	-4.911	0.35858	T	0.551726111235236	0.62026	0.553	0.72704	A	.;.;.	.;.;.	3.700983	0.52779	23.3	0.99735422206405644	0.83119	0.94504	0.61379	D	AEFBI	0.403007	0.47686	N	-0.0894842385370937	0.37853	2.208302	0.0333076615415787	0.41272	2.476783	0.999990894831856	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.7	4.7	0.58776	1.253000	0.32488	5.086000	0.47311	0.609000	0.47794	0.854000	0.30511	1.000000	0.68203	0.987000	0.62547	0.0:0.1705:0.0:0.8295	7.511	0.26744	840	0.37365	.;.;.	.	.	.	.	rs61750442	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1280.98	33	chr2	149582194	.	T	G	1280.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.862;DP=790;ExcessHet=0.0000;FS=3.801;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=-2.072e+00;SOR=1.101	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1180	20	0	1	0
chr2	150486775	150486775	C	T	exonic	RND3	.	nonsynonymous SNV	RND3:NM_001254738:exon2:c.G157A:p.V53I	.	.	422	1098	1	1	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.038	B	0.027	B	0.000	D	1.000	D	0.96	L	-0.98	T	-0.723	T	0.276	T	0.49	3.935	20.1	5.39	2.513	7.610	18.138	0.211	0.0190332341532	.	.	8.237e-05	0	0	0	0	0	0	0.0006	6.47e-05	10	154602	rs759860450	3.907e-05	4.104e-05	2.183e-05	5.648e-05	0.0006	3.053e-05	2.788e-05	0.0005	0.0004	0	0	0	0	0	0.0002	1.803e-06	3.318e-05	0.0006	1.314e-05	1.313e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	7.296e-05	3.031e-05	0	0	0	0	0	0	0	0	0	0.0004	0.062	0.51248	T	0.29	0.21011	T	0.038	0.21002	B	0.011	0.15521	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.285	0.10073	N	-0.98	0.75789	T	-0.87	0.24026	N	0.509	0.56403	-0.7226	0.59334	T	0.276	0.64824	T	10	0.23024681	0.39971	T	0.019033	0.41279	T	0.211	0.50185	0.408	0.44230	0.715900333207	0.71341	0.39528165249549185	0.39443	0.449415693585	0.44730	0.752177596092	0.74768	T	0.335784	0.70537	T	-0.162905	0.26314	T	-0.143818	0.59785	T	0.145768705652619	0.16762	T	0.940706	0.77799	D	0.349663	0.57041	0.2654891	0.52382	0.349663	0.57041	0.2654891	0.52381	-4.613	0.32335	T	.	.	0.120	0.24867	B	.;.;.;.	.;.;.;.	4.011919	0.59186	24.1	0.9980137476775498	0.88639	0.54779	0.29700	D	AEFDBHCIJ	0.935820	0.93126	D	0.0802728404986665	0.45544	2.809088	0.277226219962097	0.54214	3.586937	1.0	0.98316	0.733237	0.96898	0	0.609123	0.50646	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	5.39	5.39	0.77615	7.763000	0.84121	7.610000	0.61877	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	18.138	0.89561	848	0.35897	Small GTP-binding protein domain;Small GTP-binding protein domain;Small GTP-binding protein domain;Small GTP-binding protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1746.98	36	chr2	150486775	.	C	T	1746.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.82;DP=849;ExcessHet=0.0000;FS=0.624;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=1.37;SOR=0.777	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1080	20	0	1	0
chr2	151379533	151379533	A	-	exonic	TNFAIP6	.	nonframeshift deletion	TNFAIP6:NM_007115:exon6:c.834delA:p.X278X,	.	.	840	267	190	178	47	593	0.505556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	7392.52	39	chr2	151379531	.	TAA	TA,T,TAAA	7392.52	.	AC=24,2,2;AF=0.571,0.048,0.048;AN=42;BaseQRankSum=0.116;DP=709;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2796;MLEAC=24,2,2;MLEAF=0.571,0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=0.839;SOR=0.651	GT:AD:DP:GQ:PL	0/1:10,8,0,0:18:99:141,0,188,171,212,383,171,212,383,383	1	6	10	0
chr2	151379533	151379533	-	A	exonic	TNFAIP6	.	nonframeshift insertion	TNFAIP6:NM_007115:exon6:c.834dupA:p.X278delinsX,	.	.	840	267	190	178	47	593	0.505556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	7392.52	39	chr2	151379531	.	TAA	TA,T,TAAA	7392.52	.	AC=24,2,2;AF=0.571,0.048,0.048;AN=42;BaseQRankSum=0.116;DP=709;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2796;MLEAC=24,2,2;MLEAF=0.571,0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=0.839;SOR=0.651	GT:AD:DP:GQ:PL	0/1:10,8,0,0:18:99:141,0,188,171,212,383,171,212,383,383	1	6	10	0
chr2	151437270	151437270	C	T	exonic	RIF1	.	nonsynonymous SNV	RIF1:NM_001177665:exon12:c.C1402T:p.P468S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.237	B	0.061	B	0.001	N	1.000	D	0.68	N	2.59	T	-1.010	T	0.018	T	0.254	-0.334	2.418	4.64	1.327	1.249	5.981	0.057	0.00606981021827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.736e-06	2.723e-06	1.375e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	0.10148	T	0.412	0.14456	T	0.074	0.30795	B	0.014	0.26820	B	0.000794	0.41772	N	0.278541	0.997074	0.81001	D	1.87	0.49600	L	2.58	0.13434	T	-2.9	0.60827	D	0.287	0.33250	-1.0097	0.27012	T	0.018	0.07565	T	10	0.10432607	0.19227	T	0.00607	0.15875	T	0.080	0.23350	0.466	0.53729	0.292174397486	0.28832	0.3165661440825328	0.31569	0.0521512716169	0.05740	0.258996814489	0.04772	T	0.210743	0.57131	T	-0.213477	0.18892	T	-0.544422	0.17865	T	0.167132124304771	0.18383	T	0.787021	0.42899	T	0.060168862	0.12314	0.08558277	0.19771	0.060168862	0.12314	0.08558277	0.19770	-2.535	0.06025	T	.	.	0.074	0.06617	B	.;.;.;.;.	.;.;.;.;.	2.247093	0.28697	17.88	0.50167447680552057	0.04337	0.69529	0.34224	D	AEFDBCI	0.080389	0.16251	N	-0.447367299975786	0.23828	1.282456	-0.304127512702091	0.27966	1.555608	0.450275813185682	0.20534	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	4.64	0.57399	1.283000	0.32843	.	.	0.549000	0.26987	0.997000	0.40164	1.000000	0.68203	0.984000	0.60418	0.0:0.7309:0.0:0.2691	5.981	0.18641	833	0.38804	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1478.98	40	chr2	151437270	.	C	T	1478.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.051;DP=852;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.06;ReadPosRankSum=-1.730e-01;SOR=0.742	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1242	20	0	1	0
chr2	151441951	151441951	G	A	exonic	RIF1	.	nonsynonymous SNV	RIF1:NM_001177665:exon15:c.G1694A:p.G565D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.999	D	0.000	D	1.000	D	2.075	M	2.27	T	-1.016	T	0.123	T	0.838	4.514	24.3	5.4	2.541	8.260	18.772	0.305	0.0204137417698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.42487	T	0.0	0.92824	D	1.0	0.90584	D	0.988	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.22	0.62911	M	2.27	0.17431	T	-2.42	0.53096	N	0.82	0.86404	-1.0165	0.24852	T	0.123	0.42568	T	10	0.6401906	0.69012	D	0.020414	0.42999	T	0.305	0.62620	0.338	0.32816	0.347992687056	0.34409	0.6540816671368557	0.65344	0.340449770571	0.35984	0.732490062714	0.71870	T	0.489765	0.81485	T	0.146391	0.68930	D	-0.0274966	0.68534	D	0.981702089309692	0.74064	D	0.932807	0.74830	D	0.4668066	0.65094	0.47849584	0.69791	0.4668066	0.65094	0.47849584	0.69792	-2.608	0.06564	T	.	.	0.976	0.90590	P	.;.;.;.;.	.;.;.;.;.	5.451672	0.91058	32	0.99847732107209064	0.92750	0.98510	0.83546	D	AEFBI	0.876938	0.80124	D	0.841431069487819	0.88613	9.645238	0.825340929314976	0.91499	10.91693	0.999999618382924	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.4	5.4	0.77957	8.381000	0.90041	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.772	0.91863	810	0.42761	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	613.98	33	chr2	151441951	.	G	A	613.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.130;DP=747;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.58;ReadPosRankSum=1.24;SOR=0.724	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1052	20	0	1	0
chr2	151464121	151464121	C	G	exonic	RIF1	.	nonsynonymous SNV	RIF1:NM_001177665:exon29:c.C4601G:p.T1534R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.83	T	0.999	D	0.981	D	0.171	N	1.000	D	2.095	M	1.16	T	-0.898	T	0.199	T	0.575	3.851	19.56	5.55	2.595	2.844	19.094	0.231	0.0132042069465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44694	D	0.056	0.46632	T	0.999	0.77913	D	0.957	0.75168	D	0.171475	0.17362	N	0.621086	0.994898	0.42460	D	2.615	0.76484	M	1.16	0.38073	T	-2.29	0.53258	N	0.578	0.66101	-0.8978	0.48214	T	0.199	0.55428	T	10	0.3823325	0.54287	T	0.013204	0.32416	T	0.231	0.53208	0.329	0.31357	0.344740032716	0.34089	0.10112074737717566	0.10043	0.319352230319	0.34135	0.627508878708	0.56792	T	0.279477	0.65216	T	-0.0347253	0.46727	T	-0.287657	0.46015	T	0.864834904670715	0.51498	D	0.825917	0.48908	T	0.18288364	0.39528	0.2175544	0.46425	0.18288364	0.39528	0.2175544	0.46424	-4.144	0.26665	T	.	.	0.417	0.75917	A	.;.;.;.;.	.;.;.;.;.	4.469169	0.69627	25.4	0.99430700976920905	0.64227	0.88774	0.48864	D	AEFBHCI	0.410756	0.48150	N	0.495360197193954	0.66819	4.999667	0.504198096372787	0.68274	5.197273	0.99999999655051	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.55	5.55	0.83298	3.117000	0.50099	.	.	0.599000	0.40250	0.969000	0.34210	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.094	0.93227	806	0.43582	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1339.98	69	chr2	151464121	.	C	G	1339.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.201e+00;DP=1490;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=0.322;SOR=0.765	GT:AD:DP:GQ:PL	0/0:82,0:82:99:0,120,1800	20	0	1	0
chr2	151494186	151494186	T	C	exonic	NEB	.	nonsynonymous SNV	NEB:NM_004543:exon141:c.A18950G:p.K6317R	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	YES	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.999	D	0.997	D	0.000	D	1.000	D	2.145	M	0.24	T	-0.380	T	0.371	T	0.487	2.080	12.91	5.96	2.270	3.430	16.095	0.165	0.00989549436541	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1053712292	1.374e-06	2.052e-06	1.365e-06	1.382e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.019e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.28772	T	0.033	0.53072	D	0.735	0.42814	P	0.519	0.48163	P	0.000008	0.62929	D	0.000000	0.999251	0.51612	D	1.34	0.33385	L	0.24	0.59583	T	-1.63	0.39119	N	0.537	0.59053	-0.3799	0.72654	T	0.371	0.73008	T	10	0.343791	0.51384	T	0.009895	0.25766	T	0.165	0.42395	0.614	0.74768	0.618333858498	0.61524	0.3707436521108393	0.36988	0.318860891335	0.34104	0.692018032074	0.65996	T	0.019383	0.30014	T	-0.0321989	0.47096	T	-0.284028	0.46390	T	0.815143525600433	0.47416	D	0.886311	0.61284	D	0.22878627	0.45604	0.23727272	0.49020	0.22878627	0.45604	0.23727272	0.49019	-7.601	0.61825	D	.	.	0.105	0.19357	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.924342	0.57317	23.8	0.99491665130982765	0.67460	0.94642	0.61835	D	AEFGBI	0.316654	0.42088	N	0.393469512507884	0.61067	4.303049	0.468071954922695	0.65887	4.88073	0.99518634920807	0.33994	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.96	5.96	0.96695	2.748000	0.47160	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.095	0.80926	800	0.44535	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1152.98	34	chr2	151494186	.	T	C	1152.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.400e-02;DP=813;ExcessHet=0.0000;FS=1.551;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=-6.200e-02;SOR=0.885	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1174	20	0	1	0
chr2	151494220	151494220	C	T	exonic	NEB	.	nonsynonymous SNV	NEB:NM_004543:exon141:c.G18916A:p.A6306T	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	YES	0	1512	10	0	0	10	0.00329598	.	.	268544	NEB-related_disorder|Nemaline_myopathy_2|Inborn_genetic_diseases|not_provided	.|MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.43	T	0.741	P	0.353	B	0.000	U	1.000	N	0.59	N	4.19	T	-1.031	T	0.083	T	0.245	3.714	18.86	5.09	0.872	4.337	11.822	0.101	0.0137481650275	0.0002	0.000199681	0.0005	0.0002	0.0004	0.0008	0.0005	0.0007	0	9.295e-05	0.0002781	43	154602	rs199937246	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0001	0.0010	0.0009	0	0.0002	0.0021	0.0013	0.0002	0.0017	8.127e-05	0.0002	0.0001	0.0002	0.0002	0.0001	0.0003	0.0006	0.0001	0.0001	0.0003	0.0002	2.407e-05	0	0.0005	0.0014	0.0006	0.0002	0.0034	0.0001	0	0	0.518	0.22053	T	0.021	0.58089	D	0.441	0.35913	B	0.295	0.40843	B	0.000230	0.47286	U	0.000000	0.999779	0.25682	N	1.32	0.33002	L	3.41	0.06762	T	-0.51	0.18248	N	0.236	0.39659	-1.0309	0.20163	T	0.083	0.32556	T	10	0.01606229	0.00338	T	0.013748	0.33388	T	0.101	0.28911	.	.	0.254244900254	0.25046	0.3045127982899019	0.30364	0.0589775743183	0.06548	0.593151688576	0.51938	T	0.007275	0.42647	T	-0.468076	0.00874	T	-0.551554	0.17178	T	0.0387018168484422	0.03457	T	0.0378962	0.00365	T	0.042454317	0.06440	0.07351266	0.15982	0.042454317	0.06440	0.07351266	0.15982	-4.378	0.29257	T	.	.	0.078	0.06849	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.510739	0.49159	22.7	0.99081564706982561	0.51978	0.89506	0.50014	D	AEFGBI	0.395881	0.47257	N	-0.00303373769510563	0.41719	2.500405	0.120164528702445	0.45583	2.818768	0.710884306126665	0.22818	0.615465	0.37627	0	0.588015	0.36545	0	0.608075	0.38828	0	0.655142	0.61905	0	.	.	5.96	5.09	0.68647	4.647000	0.61115	.	.	-0.107000	0.15377	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0663:0.1236:0.8101:0.0	11.822	0.51521	800	0.44535	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1073.98	34	chr2	151494220	.	C	T	1073.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.148;DP=816;ExcessHet=0.0000;FS=1.588;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.33;ReadPosRankSum=0.613;SOR=0.515	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1174	20	0	1	0
chr2	151512812	151512812	A	G	exonic	NEB	.	nonsynonymous SNV	NEB:NM_004543:exon133:c.T18128C:p.M6043T	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	0	1507	15	0	0	15	0.00495213	.	.	177067	not_specified|not_provided|NEB-related_disorder|Nemaline_myopathy_2	MedGen:CN169374|MedGen:C3661900|.|MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.59	T	0.996	D	0.966	D	0.000	D	1.000	D	1.04	L	1.54	T	-0.836	T	0.209	T	0.777	2.878	15.59	5.72	2.311	5.230	16.299	0.088	0.0265597914517	0.0015	0.000199681	0.0018	0.0002	0.0004	0	0	0.0026	0.0037	0.0017	0.0014424	223	154602	rs201767727	0.0015	0.0015	0.0014	0.0015	0.0042	0.0014	0.0014	0.0029	0.0024	0.0001	0.0006	0.0162	0	0.0002	0.0042	0.0013	0.0020	0.0014	0.0011	0.0011	0.0011	0.0011	0.0014	0.0010	0.0009	0.0009	0.0009	0.0003	0	0.0003	0.0187	0	9.425e-05	0.0102	0.0011	0.0005	0.0014	0.268	0.16144	T	0.114	0.44905	T	0.996	0.68779	D	0.93	0.66466	D	0.000000	0.84330	D	0.085543	0.997174	0.43684	D	1.035	0.25616	L	0.9	0.45248	T	-2.57	0.55501	D	0.665	0.91276	-0.8362	0.52898	T	0.209	0.56812	T	10	0.0072886944	0.00166	T	0.02656	0.49457	D	0.219	0.51417	.	.	0.54294064856	0.53946	0.10906890648319095	0.10835	0.325890546285	0.34736	0.733500659466	0.72018	T	0.043184	0.44593	T	-0.255524	0.13429	T	-0.169898	0.57453	T	0.0353002263818053	0.02860	T	0.850515	0.68393	D	0.46223137	0.64809	0.41840926	0.65866	0.42844704	0.62651	0.43272364	0.66849	-2.703	0.09632	T	.	.	0.272	0.50572	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.649817	0.51790	23.1	0.94645462078591625	0.25246	0.95120	0.63511	D	AEFBI	0.755140	0.69480	D	0.317342865222644	0.57037	3.869821	0.430055078599464	0.63447	4.578478	0.976110644675405	0.29695	0.638212	0.43195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	5.72	5.72	0.89380	5.192000	0.64953	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.299	0.82622	856	0.34373	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2192.98	37	chr2	151512812	.	A	G	2192.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.474e+00;DP=879;ExcessHet=0.0000;FS=0.530;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=0.917;SOR=0.643	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1259	20	0	1	0
chr2	151531801	151531801	T	G	exonic	NEB	.	nonsynonymous SNV	NEB:NM_004543:exon116:c.A16374C:p.Q5458H	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	5	1514	3	0	0	3	0.000989772	.	.	498735	Nemaline_myopathy_2|not_specified	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.19	T	0.977	D	0.945	D	0.000	D	1.000	D	1.41	L	0.82	T	-0.905	T	0.176	T	0.5	4.415	23.4	-1.98	-0.334	0.305	12.811	0.255	0.0376814524712	.	0.000599042	0.0004	0	0	0	0	0	0.0013	0.0033	0.0003105	48	154602	rs542149432	0.0002	0.0002	8.87e-05	0.0003	0.0025	0.0002	0.0001	0.0022	0.0021	0	0	0	0	0	0	1.713e-05	0.0002	0.0025	9.189e-05	9.186e-05	3.853e-05	0.0001	0.0027	5.522e-05	4.36e-05	0.0016	0.0013	0	0	0	0	0	0	0	1.47e-05	0	0.0027	0.063	0.57480	T	0.002	0.83351	D	0.933	0.52105	P	0.866	0.61580	P	0.000004	0.62929	D	0.105016	0.998547	0.45064	D	1.76	0.45711	L	0.82	0.48142	T	-2.19	0.51157	N	0.441	0.52740	-0.9049	0.47458	T	0.176	0.52053	T	10	0.013506621	0.00286	T	0.037681	0.57762	D	0.255	0.56562	0.558	0.67684	0.7439613896	0.74166	0.25442100470547985	0.25356	0.324208047398	0.34584	0.665563344955	0.62205	T	0.036278	0.45935	T	-0.407045	0.02080	T	-0.362395	0.37775	T	0.116429299116135	0.14077	T	0.891911	0.71628	D	0.20497927	0.42625	0.26043993	0.51807	0.21224172	0.43571	0.28166863	0.54149	-5.724	0.43906	T	.	.	0.503	0.64709	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.459043	0.31677	18.81	0.99513931794434551	0.68799	0.87495	0.47053	D	AEFBI	0.331811	0.43141	N	0.0595270006526013	0.44582	2.729605	-0.0116583671145242	0.39186	2.31972	1.43326717728203E-4	0.05573	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.73	-1.98	0.07070	0.402000	0.20690	.	.	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	0.997000	0.79791	0.0:0.5509:0.0:0.4491	12.811	0.57021	894	0.26265	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1193.98	71	chr2	151531801	.	T	G	1193.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.884e+00;DP=1316;ExcessHet=0.0000;FS=5.451;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=0.326;SOR=0.307	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	20	0	1	0
chr2	151563644	151563644	C	T	exonic	NEB	.	nonsynonymous SNV	NEB:NM_004543:exon91:c.G13516A:p.V4506M	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.996	D	0.993	D	0.000	D	1.000	D	0.58	N	1.4	T	-0.970	T	0.143	T	0.769	3.628	18.45	5.54	2.765	4.778	19.843	0.185	0.0257429881797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.004	0.76473	D	0.991	0.64070	D	0.957	0.69900	D	0.000002	0.62929	D	0.057522	0.999869	0.50061	D	1.435	0.35949	L	1.4	0.33630	T	-0.98	0.30964	N	0.679	0.73735	-0.9702	0.37157	T	0.143	0.46532	T	10	0.41652066	0.56578	T	0.025743	0.48694	D	0.185	0.45933	0.468	0.54052	0.384252928164	0.38032	0.4368378146436939	0.43600	0.342242573836	0.36158	0.645839691162	0.59394	T	0.033276	0.65956	T	0.0402236	0.57075	T	-0.179998	0.56523	T	0.845594756587734	0.49790	D	0.922208	0.81197	D	0.20621848	0.42789	0.21098427	0.45508	0.20621848	0.42789	0.21098427	0.45507	-2.408	0.05182	T	.	.	0.354	0.56831	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.824449	0.55248	23.6	0.99645059197829022	0.76943	0.96783	0.70916	D	AEFBI	0.737525	0.68269	D	0.54096491380808	0.69532	5.370566	0.593621167541424	0.74479	6.144403	0.998184138364493	0.36545	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.54	5.54	0.82907	4.834000	0.62463	.	.	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.998000	0.85391	0.0:1.0:0.0:0.0	19.843	0.96691	901	0.24189	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2315.98	33	chr2	151563644	.	C	T	2315.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.980e-01;DP=870;ExcessHet=0.0000;FS=0.577;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.62;ReadPosRankSum=-2.170e-01;SOR=0.611	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1348	20	0	1	0
chr2	151680729	151680729	C	T	splicing	NEB	NM_001164507:exon30:c.3042+1G>A;NM_001271208:exon30:c.3042+1G>A;NM_004543:exon30:c.3042+1G>A;NM_001164508:exon30:c.3042+1G>A	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	YES	.	.	.	.	.	.	.	1.0000	0.938	939850	Nemaline_myopathy_2	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.502	24.2	5.82	2.764	6.476	18.870	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.738e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.936609	0.94117	33	0.99349119721063961	0.60493	0.97623	0.75973	D	AEFBI	.	.	.	1.19148709426811	0.99469	22.96786	1.05788045534202	0.99467	22.95182	0.999998626380482	0.74766	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.989765	0.98485	5.82	5.82	0.92740	5.023000	0.63858	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.870	0.92282	863	0.32847	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	547.01	131	chr2	151680729	.	C	T	547.01	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.151e+00;DP=1823;ExcessHet=0.6776;FS=116.428;InbreedingCoeff=-0.1070;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=1.04;ReadPosRankSum=1.23;SOR=10.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1329	17	0	4	0
chr2	151812356	151812356	C	G	splicing	ARL5A	NM_001037174:exon4:c.228+1G>C;NM_012097:exon4:c.339+1G>C;NM_177985:exon4:c.228+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.426	23.5	4.68	2.153	7.818	17.586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.782e-06	5.886e-05	4.157e-06	1.396e-06	3.642e-06	6.5e-07	4.4e-07	8.5e-07	5.8e-07	0	0	0	0	0	0	3.642e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439775	0.92012	D	0.39393	0.91914	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	7.231749	0.96294	35	0.99502293485953874	0.68089	0.99595	0.97811	D	AEFGBI	.	.	.	1.08373552501254	0.97822	16.83379	0.914098951252691	0.96157	14.36763	0.999999999922868	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.125526	0.03468	0	0.221052	0.04502	0	0.980099	0.85116	4.68	4.68	0.58319	7.892000	0.85858	.	.	0.454000	0.21428	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	17.586	0.87881	815	0.41851	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	31.83	19	chr2	151812356	.	C	G	31.83	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-1.340e-01;DP=495;ExcessHet=0.1190;FS=282.926;InbreedingCoeff=0.0517;MLEAC=2;MLEAF=0.056;MQ=60.00;MQRankSum=0.00;QD=0.76;ReadPosRankSum=0.386;SOR=8.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:20,0:24:55:.:.:0,55,344	16	0	2	3
chr2	152718958	152718958	C	T	exonic	ARL6IP6	.	nonsynonymous SNV	ARL6IP6:NM_001371972:exon1:c.C334T:p.L112F	.	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.004	B	0.01	B	0.038	N	1.000	N	1.59	L	.	.	-1.032	T	0.069	T	0.14	1.999	12.64	0.714	0.238	0.102	6.008	0.009	0.0052537401606	7.7e-05	0.000599042	0.0002	0	0.0009	0	0	0.0002	0	0	0.0001811	28	154602	rs199937873	0.0001	0.0001	0.0001	0.0001	0.0023	0.0001	0.0001	0.0013	0.0011	0.0002	0.0009	0	0	0	0.0023	0.0001	0.0005	1.176e-05	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0001	0.0004	0.0003	2.405e-05	0	0.0007	0	0	0	0	0.0002	0.0028	0	0.145	0.25154	T	0.091	0.40110	T	0.004	0.12183	B	0.01	0.14941	B	0.037622	0.24379	N	0.325673	0.999998	0.08975	N	1.055	0.26876	L	.	.	.	-1.67	0.39887	N	0.107	0.09207	-1.0324	0.19681	T	0.069	0.28247	T	9	0.011358827	0.00249	T	0.005254	0.13402	T	0.009	0.00846	.	.	0.146414634003	0.14194	0.38341896667500547	0.38256	0.23699259497	0.26238	0.464219331741	0.33889	T	0.047695	0.27800	T	-0.465105	0.00913	T	-0.521394	0.20154	T	0.0133956366604718	0.00242	T	0.582242	0.21111	T	0.075339444	0.16968	0.11074644	0.26707	0.075339444	0.16967	0.11074644	0.26706	-4.681	0.33173	T	.	.	0.070	0.03588	B	.	.	1.447892	0.18681	13.87	0.97687485033299215	0.35352	0.10896	0.16267	N	AEFDGBHCI	0.105515	0.21081	N	-0.834406952924397	0.12437	0.6062174	-0.835451139346746	0.13637	0.7085466	0.99999999997221	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.71	0.714	0.17336	0.108000	0.15232	-0.149000	0.11438	-0.187000	0.09635	0.276000	0.25103	0.170000	0.23335	0.951000	0.49849	0.0:0.5803:0.1513:0.2684	6.008	0.18787	407	0.82314	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1102.98	35	chr2	152718958	.	C	T	1102.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=815;ExcessHet=0.0000;FS=0.725;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.85;ReadPosRankSum=-1.275e+00;SOR=0.586	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,106,1220	20	0	1	0
chr2	156550607	156550607	G	A	exonic	GPD2	.	nonsynonymous SNV	GPD2:NM_000408:exon8:c.G832A:p.E278K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.0	B	0.021	B	0.000	D	1.000	D	1.795	L	-1.46	T	-0.360	T	0.464	T	0.493	4.212	21.9	5.81	2.743	6.604	20.070	0.383	0.0722482262432	.	.	8.241e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs746974136	6.157e-06	6.156e-06	2.723e-06	9.627e-06	9.275e-05	2.9e-06	2.1e-06	4.579e-05	3.272e-05	0	0	0	0	0	0	0	1.656e-05	9.275e-05	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.024	0.47745	D	0.132	0.37589	T	0.0	0.02946	B	0.021	0.19346	B	0.000001	0.84330	D	0.103590	1	0.81001	D	2.025	0.55430	M	-1.46	0.80983	T	-2.84	0.61722	D	0.669	0.68863	-0.3596	0.73275	T	0.464	0.79246	T	10	0.60391337	0.67066	D	0.072248	0.71483	D	0.383	0.70029	0.54	0.65161	0.81848862413	0.81678	0.780974409754872	0.78048	0.520087814478	0.49816	0.815068483353	0.84270	D	0.635465	0.88755	D	0.0179496	0.54105	T	-0.115139	0.62199	T	0.88019859790802	0.53019	D	0.984102	0.97198	D	0.48165542	0.66001	0.38793728	0.63650	0.48165542	0.66001	0.38793728	0.63649	-10.581	0.77311	D	.	.	0.237	0.47027	B	.;.;.;.;.	.;.;.;.;.	4.915134	0.80898	27.4	0.99879309811209571	0.95572	0.98103	0.79624	D	AEFBI	0.808201	0.73204	D	0.213402433692973	0.51847	3.362987	0.392957301895997	0.61131	4.308936	0.99999984128952	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.81	5.81	0.92413	6.723000	0.74552	11.899000	0.99301	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.070	0.97717	835	0.38313	FAD dependent oxidoreductase;FAD dependent oxidoreductase;FAD dependent oxidoreductase;FAD dependent oxidoreductase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	684.98	63	chr2	156550607	.	G	A	684.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=764;ExcessHet=0.0000;FS=2.133;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=1.20;SOR=1.013	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1361	20	0	1	0
chr2	157308720	157308720	C	T	exonic	GALNT5	.	nonsynonymous SNV	GALNT5:NM_014568:exon9:c.C2674T:p.P892S	.	.	424	1080	16	2	0	20	0.00917431	.	.	2819119	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.284	B	0.168	B	0.795	N	0.926	D	2.015	M	0.39	T	-0.839	T	0.142	T	0.225	2.378	13.91	4.88	1.324	1.250	9.841	0.122	0.0115885196238	0.0049	0.00199681	0.0046	0.0010	0.0045	0	0.0009	0.0068	0.0067	0.0014	0.0045472	703	154602	rs143599667	0.0053	0.0053	0.0053	0.0054	0.0101	0.0052	0.0052	0.0080	0.0073	0.0010	0.0054	0.0179	2.522e-05	0.0012	0.0101	0.0058	0.0061	0.0018	0.0047	0.0047	0.0047	0.0046	0.0072	0.0044	0.0043	0.0064	0.0062	0.0011	0	0.0072	0.0176	0.0002	0.0004	0	0.0069	0.0071	0.0008	0.126	0.27194	T	0.039	0.51112	D	0.284	0.32165	B	0.168	0.35187	B	0.795003	0.09367	N	0.899922	0.926476	0.36835	D	1.745	0.45235	L	0.39	0.57419	T	-2.22	0.49846	N	0.169	0.17966	-0.8389	0.52720	T	0.142	0.46386	T	10	0.005886346	0.00132	T	0.011589	0.29367	T	0.122	0.33800	.	.	0.74636996336	0.74408	0.6876907580907651	0.68709	0.178225233787	0.20055	0.294013023376	0.09512	T	0.023739	0.18066	T	-0.477634	0.00764	T	-0.452892	0.27377	T	0.0179633866195233	0.00521	T	0.656534	0.26618	T	0.069989406	0.15379	0.11520474	0.27809	0.069989406	0.15379	0.11520474	0.27808	-8.956	0.67413	D	.	.	0.080	0.07745	B	.	.	2.512935	0.32460	19.05	0.99290656901170071	0.58255	0.58481	0.30653	D	AEFBI	0.058254	0.10917	N	-0.0142276765954143	0.41211	2.461023	0.0581654468663921	0.42468	2.569197	0.99999229942457	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.81	4.88	0.63131	1.443000	0.34668	3.352000	0.37793	0.599000	0.40250	0.784000	0.29521	0.999000	0.35428	0.988000	0.63387	0.0:0.8318:0.0:0.1682	9.841	0.40168	560	0.71333	Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	644.98	27	chr2	157308720	.	C	T	644.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.600e-01;DP=643;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.16;ReadPosRankSum=1.31;SOR=0.504	GT:AD:DP:GQ:PL	0/0:29,0:29:81:0,81,1215	20	0	1	0
chr2	157321525	157321525	C	G	exonic	ERMN	.	nonsynonymous SNV	ERMN:NM_001304346:exon3:c.G541C:p.V181L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.753	P	0.241	B	0.000	D	1.000	N	1.04	L	.	.	-1.008	T	0.064	T	0.589	2.522	14.39	4.94	1.467	2.498	9.504	0.194	0.00202641819198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0035	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.206e-05	2.239e-05	0	7.6e-05	0	0	0.0002	0.0002	5.858e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.591	0.16134	T	0.753	0.43334	P	0.241	0.38645	B	0.000353	0.45440	D	0.096119	0.825017	0.28834	N	2.39	0.68882	M	.	.	.	-2.33	0.51646	N	0.32	0.63713	-1.0082	0.27479	T	0.064	0.26667	T	9	0.2529603	0.42657	T	0.002026	0.03668	T	0.194	0.47447	0.398	0.42590	0.449379577644	0.44558	0.335866359051135	0.33499	0.188691245063	0.21188	0.471151411533	0.34839	T	0.175291	0.52483	T	0.0512656	0.58505	T	-0.164137	0.57977	T	0.936455905437469	0.60547	D	0.767123	0.39577	T	0.19478427	0.41242	0.19957332	0.43846	0.19478427	0.41242	0.19957332	0.43845	-4.026	0.24787	T	.	.	0.610	0.71848	P	.;.;.	.;.;.	3.057320	0.41045	21.3	0.99387453982124174	0.62157	0.97238	0.73508	D	AEFDBI	0.448369	0.50363	N	0.192805104781322	0.50852	3.271494	0.289710337560756	0.54937	3.657473	0.999627476162613	0.41093	0.706298	0.61202	0	0.709663	0.81188	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.81	4.94	0.64645	2.554000	0.45507	4.885000	0.45705	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1418:0.7861:0.0:0.0721	9.504	0.38199	557	0.71576	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4167	1342.85	104	chr2	157321525	.	C	G	1342.85	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-4.190e+00;DP=3903;ExcessHet=17.4423;FS=278.896;InbreedingCoeff=-0.6111;MLEAC=16;MLEAF=0.444;MQ=60.00;MQRankSum=0.00;QD=0.51;ReadPosRankSum=0.851;SOR=12.437	GT:AD:DP:GQ:PL	0/1:122,56:187:99:363,0,2338	3	0	15	3
chr2	157556189	157556189	T	G	exonic	ACVR1C	.	nonsynonymous SNV	ACVR1C:NM_001111031:exon3:c.A298C:p.N100H	.	.	422	1093	7	0	0	7	0.00319197	.	.	707784	ACVR1C-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.52	T	0.003	B	0.014	B	0.000	D	1.000	D	1.735	L	-2.24	D	-0.431	T	0.339	T	0.063	1.627	11.40	5.73	2.189	2.177	10.873	0.250	.	0.0080	0.00359425	0.0060	0.0025	0.0028	0	0.0011	0.0095	0.0033	0.0020	0.0064682	1000	154602	rs55920843	0.0093	0.0093	0.0094	0.0092	0.0113	0.0091	0.0091	0.0111	0.0111	0.0013	0.0032	0.0028	0	0.0017	0.0019	0.0113	0.0077	0.0019	0.0060	0.0060	0.0067	0.0053	0.0106	0.0057	0.0056	0.0100	0.0097	0.0023	0	0.0029	0.0020	0.0002	0.0018	0	0.0106	0.0061	0.0029	0.358	0.11994	T	0.193	0.30828	T	0.003	0.11197	B	0.014	0.16862	B	0.000021	0.62929	D	0.000000	1	0.81001	D	2.045	0.56016	M	-2.34	0.87989	D	-0.98	0.25986	N	0.289	0.34120	-0.4310	0.71034	T	0.339	0.70494	T	10	0.007727623	0.00175	T	.	.	.	0.250	0.55888	.	.	0.960646119416	0.96023	0.2505988816322576	0.24973	0.707201141776	0.61482	0.39721339941	0.24681	T	0.096937	0.39925	T	-0.443007	0.01242	T	-0.398094	0.33606	T	0.0259869484408974	0.01403	T	0.780122	0.41468	T	0.10902735	0.25777	0.08674821	0.20119	0.10902735	0.25777	0.08674821	0.20118	-4.235	0.27255	T	.	.	0.076	0.07318	B	.;.	.;.	2.970195	0.39582	21.0	0.97142525049805595	0.32551	0.56183	0.30052	D	AEFBI	0.328443	0.42911	N	-0.354461714358956	0.27109	1.484704	-0.251892596510282	0.29707	1.666488	0.00518808328304877	0.10855	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.73	5.73	0.89730	2.187000	0.42234	7.886000	0.72778	0.665000	0.62972	0.423000	0.26353	1.000000	0.68203	0.898000	0.43474	0.1405:0.0:0.0:0.8595	10.873	0.46106	694	0.58444	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1282.98	33	chr2	157556189	.	T	G	1282.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.845;DP=817;ExcessHet=0.0000;FS=2.349;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=-5.660e-01;SOR=0.957	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1137	20	0	1	0
chr2	157799450	157799450	G	C	exonic	ACVR1	.	nonsynonymous SNV	ACVR1:NM_001105:exon3:c.C44G:p.A15G	Fibrodysplasia ossificans progressiva, Autosomal dominant	.	6	1446	65	5	0	75	0.0252781	.	.	250305	not_specified|not_provided|Progressive_myositis_ossificans	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007606,MedGen:C0016037,OMIM:135100,Orphanet:337	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.13	T	0.016	B	0.007	B	0.219	N	0.908	D	0.55	N	-0.81	T	-0.083	T	0.528	D	0.325	2.808	15.35	5.84	2.760	3.258	17.649	0.254	.	0.0062	0.00738818	0.0110	0.0006	0.0033	0	0.0054	0.0083	0.0231	0.0410	0.0100128	1548	154602	rs13406336	0.0088	0.0089	0.0076	0.0099	0.0404	0.0086	0.0086	0.0393	0.0389	0.0010	0.0036	0.0081	0.0001	0.0051	0.0207	0.0072	0.0090	0.0404	0.0067	0.0067	0.0064	0.0071	0.0320	0.0064	0.0062	0.0279	0.0263	0.0014	0	0.0076	0.0061	0.0002	0.0066	0.0345	0.0086	0.0048	0.0320	0.019	0.50132	D	0.134	0.34241	T	0.016	0.17332	B	0.007	0.12992	B	0.219181	0.16180	N	0.624103	0.908305	0.36344	D	0.55	0.14455	N	-2.99	0.92108	D	-0.77	0.74051	N	0.154	0.15888	-0.0828	0.80492	T	0.528	0.82472	D	10	0.004531741	0.00094	T	.	.	.	0.254	0.56428	.	.	.	.	0.3766281390763211	0.37576	0.692663828589	0.60675	0.430657148361	0.29298	T	0.487568	0.81357	T	-0.282024	0.10454	T	-0.147897	0.59429	T	0.0101925086234487	0.00138	T	0.719828	0.35417	T	0.067496	0.14622	0.0723129	0.15587	0.06910109	0.15112	0.10094586	0.24151	-4.456	0.30309	T	.	.	0.107	0.21840	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.674691	0.34877	19.75	0.99349011443502289	0.60493	0.90826	0.52333	D	AEFDBI	0.400668	0.47546	N	-0.0936229972742416	0.37671	2.195113	0.108813149421597	0.44998	2.770949	0.99999999925213	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	4.289000	0.58806	7.669000	0.64672	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.0:1.0:0.0	17.649	0.88060	811	0.42639	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.09524	2734.92	86	chr2	157799450	.	G	C	2734.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-9.470e-01;DP=959;ExcessHet=0.6776;FS=0.423;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=9.00;ReadPosRankSum=0.267;SOR=0.647	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1106	17	0	4	0
chr2	158621038	158621038	A	G	exonic	PKP4	.	nonsynonymous SNV	PKP4:NM_001005476:exon5:c.A329G:p.Q110R	.	.	433	1082	7	0	0	7	0.00322432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.0	B	0.0	B	0.003	N	0.995	N	0.69	N	-0.77	T	-0.822	T	0.235	T	0.16	2.217	13.37	4.62	0.990	4.402	12.317	0.130	0.015169636327	0.0005	.	0.0007	0	8.64e-05	0	0.0002	0.0012	0.0033	0	0.0006209	96	154602	rs148019751	0.0006	0.0006	0.0005	0.0006	0.0019	0.0005	0.0005	0.0011	0.0008	5.974e-05	0.0004	0.0130	0	0.0002	0.0019	0.0003	0.0013	0.0001	0.0005	0.0005	0.0005	0.0005	0.0004	0.0004	0.0004	0.0003	0.0003	7.216e-05	0	0.0001	0.0124	0	0	0	0.0004	0.0005	0.0002	0.036	0.46910	D	0.265	0.22694	T	0.0	0.02946	B	0.0	0.01387	B	0.003366	0.35041	N	0.362321	0.99505	0.23385	N	1.265	0.31966	L	-0.77	0.73523	T	-0.63	0.18459	N	0.228	0.25622	-0.8219	0.53815	T	0.235	0.60148	T	10	0.005995482	0.00135	T	0.01517	0.35746	T	0.130	0.35528	.	.	0.725496674379	0.72306	0.30602091935811665	0.30515	0.191457487141	0.21472	0.448989152908	0.31805	T	0.055472	0.38585	T	-0.300764	0.08588	T	-0.322632	0.42286	T	0.0272140596675426	0.01574	T	0.757524	0.38090	T	0.10324403	0.24403	0.09054911	0.21241	0.10324403	0.24402	0.09054911	0.21240	-3.703	0.19363	T	.	.	0.086	0.11172	B	.;.;.	.;.;.	2.529049	0.32697	19.12	0.98831422657988854	0.46952	0.97926	0.78179	D	AEFBI	0.670421	0.63751	D	-0.161016317309192	0.34767	1.988529	0.0331534570911875	0.41264	2.476225	0.99717477315629	0.35344	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.79	4.62	0.56946	4.638000	0.61051	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.8731:0.0:0.0:0.1268	12.317	0.54286	775	0.48401	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1211.98	33	chr2	158621038	.	A	G	1211.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.519e+00;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.92;ReadPosRankSum=-3.000e-02;SOR=0.753	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1235	20	0	1	0
chr2	158673899	158673899	A	G	exonic	PKP4	.	nonsynonymous SNV	PKP4:NM_001005476:exon19:c.A3026G:p.N1009S	.	.	439	1082	1	0	0	1	0.000461894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	0.002	B	0.007	B	0.000	D	0.998	D	-0.625	N	-0.71	T	-0.945	T	0.104	T	0.036	0.452	6.456	5.63	2.281	2.307	6.921	0.127	0.00499546634687	.	.	8.237e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs781225281	3.434e-06	4.105e-06	1.367e-06	5.519e-06	0.0002	1.01e-06	7.3e-07	3.85e-06	1.44e-06	0	2.236e-05	0	0	0	0.0002	0	1.661e-05	2.321e-05	2.628e-05	2.627e-05	0	5.38e-05	0.0003	8.14e-06	5.14e-06	8.876e-05	5.385e-05	0	0	0.0003	0	0	0	0	0	0	0	0.884	0.02519	T	0.776	0.04387	T	0.001	0.07471	B	0.007	0.12992	B	0.000035	0.55875	D	0.158284	0.998058	0.44459	D	0.02	0.07987	N	-0.71	0.72889	T	-0.68	0.19509	N	0.204	0.26111	-0.9445	0.41895	T	0.104	0.38169	T	10	0.12932447	0.24607	T	0.004995	0.12598	T	0.127	0.34888	0.428	0.47515	0.550632123912	0.54720	0.16437400058438761	0.16357	0.141396833044	0.15943	0.744555532932	0.73643	T	0.037489	0.33773	T	-0.278611	0.10815	T	-0.541128	0.18185	T	0.121823835053921	0.14607	T	0.921208	0.71716	D	0.030031208	0.02596	0.04924651	0.07486	0.030031208	0.02596	0.04924651	0.07485	-2.171	0.05727	T	.	.	0.071	0.04316	B	.;.;.	.;.;.	2.739248	0.35877	20.1	0.86168801329859079	0.16357	0.84361	0.43443	D	AEFBHCI	0.365379	0.45357	N	-0.416933510336039	0.24875	1.346298	-0.129394426859976	0.34210	1.965362	0.999949597288653	0.47345	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	1.480000	0.35072	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.7674:0.152:0.0806:0.0	6.921	0.23567	837	0.37933	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2187.98	44	chr2	158673899	.	A	G	2187.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=884;ExcessHet=0.0000;FS=1.229;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.92;MQRankSum=0.00;QD=13.42;ReadPosRankSum=0.139;SOR=0.832	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr2	158815810	158815810	C	T	exonic	DAPL1	.	stopgain	DAPL1:NM_001017920:exon4:c.C313T:p.R105X,	.	.	426	1087	9	0	0	9	0.00412277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	4.883	28.0	5.82	2.756	4.718	17.602	.	.	0.0042	0.00199681	0.0041	0.0007	0.0023	0	0	0.0060	0.0044	0.0035	0.0043143	667	154602	rs138143887	0.0054	0.0055	0.0055	0.0054	0.0062	0.0053	0.0053	0.0061	0.0061	0.0016	0.0028	0.0087	5.041e-05	0.0005	0.0061	0.0062	0.0052	0.0028	0.0039	0.0039	0.0038	0.0039	0.0061	0.0036	0.0035	0.0056	0.0054	0.0011	0	0.0040	0.0104	0	0.0005	0.0034	0.0061	0.0038	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.935821	0.81001	D	.	.	.	.	.	.	.	.	.	0.319	0.35938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280891	0.81392	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.843250	0.99367	43	0.997242230251698	0.82266	0.89370	0.49794	D	AEFDGBIJ	0.096972	0.19567	N	0.904317775879345	0.91971	11.16241	0.80208606730091	0.89937	10.18559	0.99999829693348	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.530356	0.10902	0	.	.	5.82	5.82	0.92740	5.043000	0.64012	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	17.602	0.87929	910	0.22284	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1541.98	33	chr2	158815810	.	C	T	1541.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.60;DP=884;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.01;ReadPosRankSum=-2.800e-01;SOR=0.684	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1205	20	0	1	0
chr2	159065938	159065938	C	T	exonic	TANC1	.	stopgain	TANC1:NM_001145909:exon3:c.C28T:p.R10X	.	.	418	1102	1	1	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.005	N	1.000	A	.	.	.	.	.	.	.	.	.	6.448	37	4.54	2.738	2.237	12.714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs960946605	1.368e-06	1.368e-06	0	2.751e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005008	0.33181	N	0.136561	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.304	0.34336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.567668	0.96476	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.115028	0.98485	39	0.99785896834938304	0.87219	0.86166	0.45395	D	AEFDBIJ	0.180497	0.30780	N	0.809584322535244	0.86703	8.970998	0.683950453004415	0.81162	7.462321	0.999998499205932	0.74766	0.645754	0.44609	0	0.588066	0.40923	0	0.675528	0.61593	0	0.723	0.93126	0	.	.	5.48	4.54	0.55220	1.788000	0.38346	3.964000	0.40771	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2683:0.7317:0.0:0.0	12.714	0.56477	805	0.43675	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	400.98	33	chr2	159065938	.	C	T	400.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=665;ExcessHet=0.0000;FS=8.916;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.85;ReadPosRankSum=2.91;SOR=1.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485	20	0	1	0
chr2	159194338	159194338	C	G	exonic	TANC1	.	nonsynonymous SNV	TANC1:NM_001350062:exon14:c.C2221G:p.Q741E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.985	D	0.981	D	0.000	D	1.000	D	0.55	N	2.44	T	-0.577	T	0.297	T	0.748	4.379	23.1	5.51	2.616	5.005	19.492	0.197	0.0162237660375	.	.	3.313e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs766810880	7.525e-06	7.524e-06	1.361e-06	1.375e-05	0.0002	4.04e-06	2.95e-06	6.246e-05	4.757e-05	0	0	0	0	0	0.0002	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.31532	T	0.116	0.36497	T	0.869	0.47796	P	0.636	0.51948	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.955	0.23872	L	-0.08	0.63911	T	-1.54	0.37375	N	0.435	0.47395	-0.5770	0.65736	T	0.297	0.66858	T	10	0.36412573	0.52965	T	0.016224	0.37369	T	0.197	0.47942	0.618	0.75232	0.642454921559	0.63950	0.7424170143003654	0.74187	0.826036576079	0.67408	0.603979110718	0.53465	T	0.103331	0.41188	T	-0.0618815	0.42612	T	-0.0669859	0.65841	T	0.265165030956268	0.23539	T	0.939006	0.77019	D	0.32066745	0.54696	0.34912696	0.60542	0.32066745	0.54696	0.34912696	0.60542	-11.091	0.80154	D	.	.	0.225	0.45665	B	.	.	4.267226	0.64895	24.8	0.99265193094458803	0.57356	0.97492	0.75099	D	AEFBI	0.721307	0.67159	D	0.458190575226291	0.64669	4.726754	0.531748674462113	0.70138	5.461278	0.999999999984099	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.608524	0.38960	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	5.080000	0.64267	7.682000	0.65344	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.492	0.95044	640	0.64132	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2243.98	37	chr2	159194338	.	C	G	2243.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.420e+00;DP=869;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=-3.670e-01;SOR=0.671	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1248	20	0	1	0
chr2	159219716	159219716	A	G	exonic	TANC1	.	nonsynonymous SNV	TANC1:NM_001350062:exon19:c.A2924G:p.K975R	.	.	435	1070	16	1	0	18	0.00834106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.991	D	0.986	D	0.000	D	1.000	D	1.59	L	2.29	T	-1.144	T	0.070	T	0.272	3.343	17.25	5.61	2.254	6.327	16.102	0.094	0.0135433485013	0.0069	0.00259585	0.0061	0.0013	0.0093	0.0001	0.0056	0.0076	0.0089	0.0037	0.0059314	917	154602	rs144753108	0.0073	0.0073	0.0075	0.0072	0.0082	0.0072	0.0072	0.0080	0.0080	0.0012	0.0051	0.0090	2.519e-05	0.0052	0.0062	0.0082	0.0072	0.0042	0.0050	0.0050	0.0052	0.0049	0.0076	0.0047	0.0046	0.0071	0.0068	0.0017	0.0352	0.0027	0.0081	0.0002	0.0051	0.0102	0.0076	0.0047	0.0021	0.136	0.26085	T	0.042	0.50226	D	0.29	0.32311	B	0.157	0.34536	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	0.415	0.12483	N	2.29	0.17113	T	-2.08	0.47514	N	0.309	0.34874	-1.1444	0.01202	T	0.070	0.28412	T	10	0.008304864	0.00188	T	0.013543	0.33021	T	0.094	0.27141	.	.	0.360163838653	0.35632	0.23340728746067715	0.23255	0.582302434154	0.53992	0.587670922279	0.51165	T	0.13515	0.46679	T	-0.501948	0.00558	T	-0.485828	0.23828	T	0.0122243473831747	0.00197	T	0.868613	0.57103	D	0.25126094	0.48133	0.31268016	0.57269	0.25126094	0.48133	0.31268016	0.57268	-3.622	0.18176	T	.	.	0.089	0.11941	B	.	.	3.650841	0.51811	23.1	0.99795804333082005	0.88106	0.98162	0.80137	D	AEFBI	0.726979	0.67547	D	0.329385899103533	0.57661	3.934438	0.43560205665662	0.63798	4.620823	0.999999953899644	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.667671	0.60360	0	0.714379	0.83352	0	.	.	5.61	5.61	0.85347	6.368000	0.73042	8.139000	0.76678	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	16.102	0.81002	649	0.63102	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3521.98	43	chr2	159219716	.	A	G	3521.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.073e+00;DP=1147;ExcessHet=0.0000;FS=4.199;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.70;ReadPosRankSum=-1.400e-02;SOR=0.490	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr2	159229661	159229661	G	A	exonic	TANC1	.	nonsynonymous SNV	TANC1:NM_001350062:exon24:c.G3632A:p.R1211H	.	.	439	1081	2	0	0	2	0.000924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.995	D	0.758	P	0.000	D	1.000	D	2.045	M	-0.87	T	-0.120	T	0.504	D	0.455	5.393	34	5.91	2.802	9.824	20.293	0.516	0.0831228060382	0.0002	0.00119808	0.0007	0	0.0006	0.0001	0	0.0005	0.0022	0.0025	0.0006404	99	154602	rs201882245	0.0005	0.0005	0.0004	0.0006	0.0028	0.0005	0.0004	0.0025	0.0024	8.961e-05	0.0004	0.0003	0	7.496e-05	0.0014	0.0004	0.0006	0.0028	0.0003	0.0003	0.0003	0.0003	0.0027	0.0002	0.0002	0.0016	0.0013	4.817e-05	0	0.0001	0.0006	0	0.0002	0	0.0003	0.0005	0.0027	0.017	0.51248	D	0.003	0.76473	D	0.995	0.67487	D	0.758	0.56327	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.095	0.58118	M	-0.87	0.74583	T	-3.6	0.69357	D	0.507	0.53884	-0.1203	0.79627	T	0.504	0.81315	D	9	0.017304182	0.00368	T	0.083123	0.74047	D	0.516	0.79340	.	.	0.78657237741	0.78459	0.5392971891969099	0.53854	0.719350977625	0.62131	0.510847449303	0.40342	T	0.594865	0.86930	D	-0.244414	0.14792	T	-0.127851	0.61152	T	0.117754386827483	0.14208	T	0.996967	0.98830	D	0.3567762	0.57590	0.16929331	0.38953	0.3567762	0.57590	0.16929331	0.38952	-10.049	0.74204	D	.	.	0.674	0.71913	P	.	.	5.377096	0.90129	31	0.99927895526742894	0.99163	0.99830	0.99731	D	AEFDBI	0.902390	0.85023	D	0.810506191536066	0.86760	8.989708	0.839601065884331	0.92395	11.40132	1.0	0.98316	0.67177	0.52595	0	0.588066	0.40923	0	0.566861	0.19136	0	0.711	0.71501	0	.	.	5.91	5.91	0.95240	9.958000	0.99013	11.850000	0.98050	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.293	0.98545	652	0.62785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1301.98	33	chr2	159229661	.	G	A	1301.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-1.146e+00;SOR=0.641	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1274	20	0	1	0
chr2	159350063	159350063	C	T	exonic	BAZ2B	.	nonsynonymous SNV	BAZ2B:NM_001289975:exon27:c.G4400A:p.S1467N	.	.	431	977	111	3	0	117	0.0564944	.	.	719335	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.21	T	0.004	B	0.002	B	0.115	U	0.995	N	-0.41	N	3.27	T	-0.986	T	0.010	T	0.055	0.894	8.631	4.99	2.941	0.756	6.597	0.084	.	0.0019	0.00738818	0.0080	0.0003	0.0025	0.0002	0	0.0028	0.0167	0.0440	0.0069145	1069	154602	rs143966878	0.0045	0.0045	0.0029	0.0060	0.0460	0.0044	0.0043	0.0448	0.0443	0.0002	0.0023	0.0039	0.0001	7.488e-05	0.0279	0.0017	0.0054	0.0460	0.0030	0.0030	0.0023	0.0037	0.0456	0.0028	0.0027	0.0407	0.0388	0.0004	0	0.0031	0.0046	0.0002	9.418e-05	0.0136	0.0021	0.0052	0.0456	0.327	0.13262	T	0.439	0.13365	T	0.0	0.12183	B	0.001	0.06944	B	0.114738	0.19263	U	0.365080	0.994617	0.23480	N	1.01	0.25309	L	3.27	0.06602	T	-0.06	0.07882	N	0.109	0.09490	-0.9856	0.33687	T	0.010	0.03765	T	10	0.0018053651	0.00024	T	.	.	.	0.084	0.24469	.	.	0.15499578495	0.15088	0.2681369963440382	0.26726	0.0366816850506	0.03882	0.305863142014	0.11283	T	0.01094	0.09820	T	-0.687278	0.00043	T	-0.726423	0.04491	T	0.00321575579987019	0.00034	T	0.846915	0.52723	T	0.039753538	0.05547	0.044830933	0.05896	0.039753538	0.05546	0.044830933	0.05896	-3.934	0.22948	T	.	.	0.076	0.05890	B	.;.	.;.	2.952919	0.39297	20.9	0.91316774009537693	0.20578	0.71095	0.34867	D	AEFDGBCI	0.086729	0.17585	N	-0.306285464823662	0.28908	1.598527	-0.0733311059405021	0.36497	2.124746	0.999999826993591	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	4.99	0.65942	1.077000	0.30353	2.750000	0.34528	0.599000	0.40250	0.972000	0.34453	0.782000	0.26788	0.944000	0.48669	0.0:0.6678:0.1496:0.1827	6.597	0.21871	550	0.72197	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	6118.11	34	chr2	159350063	.	C	T	6118.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.13;DP=1127;ExcessHet=0.1072;FS=4.027;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=-1.370e-01;SOR=0.957	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1344	19	0	2	0
chr2	159899054	159899059	CATTAG	-	exonic	LY75;LY75-CD302	.	nonframeshift deletion	LY75-CD302:NM_001198759:exon2:c.95_100del:p.A32_N33del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.00259585	0.0005	0.0052	0	0	0	4.529e-05	0	0.0001	0.0001153	3	26028	rs371868980	0.0001	0.0001	0.0001	0.0001	0.0038	0.0001	0.0001	0.0033	0.0031	0.0038	8.953e-05	0	0	0	0.0019	1.711e-05	0.0003	5.798e-05	0.0011	0.0011	0.0012	0.0010	0.0039	0.0010	0.0010	0.0034	0.0032	0.0039	0	0.0002	0	0	0	0.0102	7.351e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1343.94	39	chr2	159899053	.	TCATTAG	T	1343.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.490e-01;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.00;ReadPosRankSum=-5.900e-02;SOR=0.744	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1098	20	0	1	0
chr2	159944912	159944912	C	T	exonic	PLA2R1	.	nonsynonymous SNV	PLA2R1:NM_001195641:exon28:c.G4132A:p.E1378K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.002	B	0.005	B	0.069	N	1.000	D	1.245	L	2.39	T	-1.048	T	0.031	T	0.17	1.903	12.32	2.84	0.115	1.007	8.741	0.052	0.00574204286736	7.7e-05	.	3.299e-05	0.0002	0	0	0	0	0	0.0001	2.59e-05	4	154602	rs369027159	6.853e-06	6.841e-06	6.819e-06	6.887e-06	0.0002	3.47e-06	2.53e-06	5.862e-05	3.766e-05	0.0001	0	0	0	0	0.0002	0	0	4.647e-05	2.628e-05	3.283e-05	5.139e-05	0	9.651e-05	8.14e-06	5.14e-06	3.249e-05	1.915e-05	9.651e-05	0	0	0	0	0	0	0	0	0	0.112	0.28900	T	0.134	0.34241	T	0.002	0.09854	B	0.005	0.11217	B	0.068651	0.21658	N	0.499836	0.998428	0.22162	N	2.015	0.55033	M	2.39	0.15724	T	-1.87	0.43717	N	0.197	0.21710	-1.0480	0.14960	T	0.031	0.13242	T	10	0.09427044	0.16748	T	0.005742	0.14892	T	0.052	0.14661	.	.	0.255777322467	0.25185	0.44793929276318645	0.44711	0.0727749533381	0.08152	0.386936962605	0.23237	T	0.057665	0.30628	T	-0.423342	0.01629	T	-0.609209	0.12048	T	0.0477469956768579	0.05097	T	0.610439	0.23144	T	0.05779512	0.11547	0.08998381	0.21074	0.05779512	0.11546	0.08998381	0.21073	-2.372	0.04964	T	.	.	0.078	0.06756	B	.	.	1.508848	0.19389	14.24	0.97571651865121112	0.34681	0.80136	0.39855	D	AEFBI	0.114807	0.22599	N	-0.707739115040608	0.15803	0.7996964	-0.551915006417029	0.20755	1.11968	0.21516204446218	0.18288	0.50712	0.20391	0	0.573888	0.26702	0	0.536957	0.11973	0	0.635259	0.50027	0	.	.	5.76	2.84	0.32241	0.816000	0.26924	1.075000	0.23839	-0.276000	0.06580	0.995000	0.38783	0.999000	0.35428	0.874000	0.41677	0.0:0.6277:0.229:0.1433	8.741	0.33719	630	0.65016	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	572.98	34	chr2	159944912	.	C	T	572.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=751;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.55;ReadPosRankSum=1.36;SOR=0.794	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1025	20	0	1	0
chr2	160020260	160020260	T	C	exonic	PLA2R1	.	nonsynonymous SNV	PLA2R1:NM_001007267:exon8:c.A1298G:p.N433S	.	.	430	1073	19	0	0	19	0.00877598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.957	D	0.615	P	0.000	N	0.937	D	1.025	L	2.28	T	-1.044	T	0.026	T	0.267	2.293	13.62	4.91	1.126	2.232	7.654	0.049	0.0039699325808	0.0016	0.00139776	0.0013	0.0017	0.0031	0	0	0.0014	0.0068	0.0003	0.0013066	202	154602	rs141323673	0.0011	0.0011	0.0010	0.0011	0.0329	0.0010	0.0010	0.0289	0.0274	0.0026	0.0027	0.0062	0	1.875e-05	0.0329	0.0007	0.0024	0.0006	0.0012	0.0012	0.0010	0.0013	0.0023	0.0010	0.0010	0.0017	0.0015	0.0014	0	0.0023	0.0037	0	0	0.0544	0.0007	0.0038	0.0002	0.151	0.24564	T	0.431	0.14116	T	0.957	0.54824	D	0.615	0.51231	P	0.000042	0.53742	N	0.177314	0.937147	0.37180	D	0.92	0.23413	L	2.28	0.17271	T	-0.88	0.24460	N	0.383	0.42443	-1.0438	0.16177	T	0.026	0.10954	T	10	0.0074219108	0.00169	T	0.00397	0.09400	T	0.049	0.13647	.	.	0.28058544554	0.27657	0.3786224465162629	0.37777	0.150394887801	0.16965	0.494250267744	0.38029	T	0.019161	0.15317	T	-0.514213	0.00475	T	-0.516023	0.20700	T	0.0327197364937325	0.02425	T	0.871113	0.57669	D	0.047966704	0.08284	0.052716732	0.08739	0.047966704	0.08284	0.052716732	0.08739	-0.968	0.01377	T	.	.	0.099	0.17995	B	.;.	.;.	2.477703	0.31942	18.89	0.99233393154765859	0.56310	0.81081	0.40562	D	AEFBI	0.261836	0.37970	N	0.0497038461697061	0.44127	2.692602	0.152123983024314	0.47254	2.958475	0.0170353526324379	0.12904	0.706548	0.73137	0	0.573888	0.26702	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	6.06	4.91	0.63897	2.561000	0.45567	3.467000	0.38554	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0707:0.1408:0.7886	7.654	0.27534	417	0.81662	C-type lectin-like|C-type lectin-like|C-type lectin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1231.98	43	chr2	160020260	.	T	C	1231.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.860e-01;DP=796;ExcessHet=0.0000;FS=0.787;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=0.213;SOR=0.854	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1373	20	0	1	0
chr2	160137782	160137782	C	T	exonic	ITGB6	.	nonsynonymous SNV	ITGB6:NM_001282354:exon8:c.G1027A:p.V343M	Amelogenesis imperfecta, type IH, Autosomal recessive	.	427	1025	62	8	0	78	0.0366541	.	.	707793	Amelogenesis_imperfecta_type_1H|not_provided	MONDO:MONDO:0014540,MedGen:C4015557,OMIM:616221,Orphanet:88661|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.035	M	-0.45	T	0.169	D	0.481	T	0.699	4.196	21.8	5.2	2.588	3.120	19.113	0.509	.	0.0043	0.00658946	0.0089	0.0014	0.0035	0.0001	0.0012	0.0079	0.0166	0.0287	0.0082793	1280	154602	rs61737764	0.0059	0.0059	0.0051	0.0068	0.0286	0.0058	0.0058	0.0276	0.0273	0.0011	0.0030	0.0084	0.0001	0.0015	0.0277	0.0046	0.0070	0.0286	0.0043	0.0043	0.0039	0.0047	0.0249	0.0040	0.0039	0.0213	0.0199	0.0008	0.0033	0.0032	0.0066	0.0006	0.0012	0.0238	0.0057	0.0071	0.0249	0.003	0.68238	D	0.011	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	3.345	0.91022	M	-0.45	0.69896	T	-1.8	0.45042	N	0.297	0.34228	0.169	0.85386	D	0.481	0.80170	T	10	0.012100965	0.00261	T	.	.	.	0.509	0.78910	.	.	0.697297187285	0.69468	0.6160951086029223	0.61541	0.0810200920857	0.09117	0.485046923161	0.36752	T	0.771974	0.93904	D	-0.196078	0.21371	T	-0.0327995	0.68183	D	0.0909153406964552	0.11326	T	0.910609	0.69499	D	0.5046076	0.67364	0.3403883	0.59791	0.44955823	0.64013	0.3403883	0.59791	-6.427	0.49884	T	0.7321340703552297	0.81385	0.195	0.41541	B	.;.;.;.;.	.;.;.;.;.	4.120538	0.61586	24.4	0.99910961825783051	0.98022	0.97108	0.72736	D	AEFBI	0.604412	0.59552	D	0.80083389169006	0.86157	8.796558	0.733918385953222	0.84951	8.437762	0.999999989802394	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	5.2	5.2	0.71720	3.374000	0.52132	4.071000	0.41665	0.599000	0.40250	0.996000	0.39380	0.999000	0.35428	0.997000	0.79791	0.0:1.0:0.0:0.0	19.113	0.93310	419	0.81524	Integrin beta subunit, VWA domain;Integrin beta subunit, VWA domain;Integrin beta subunit, VWA domain;.;Integrin beta subunit, VWA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	3173.68	35	chr2	160137782	.	C	T	3173.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.619e+00;DP=885;ExcessHet=0.3300;FS=8.078;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=0.212;SOR=0.382	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1145	18	0	3	0
chr2	162047005	162047005	A	T	exonic	DPP4	.	nonsynonymous SNV	DPP4:NM_001379604:exon4:c.T192A:p.D64E	.	.	508	1006	8	0	0	8	0.0039604	0.0002	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.0	B	0.001	B	0.000	D	0.657	D	1.68	L	-4.55	D	0.279	D	0.810	D	0.36	2.054	12.82	0.676	0.097	0.796	3.651	0.395	0.0779797569933	.	0.000399361	0.0005	0	0	0	0	3.224e-05	0	0.0036	0.0003816	59	154602	rs200443496	0.0003	0.0003	0.0001	0.0004	0.0038	0.0003	0.0002	0.0035	0.0034	3.234e-05	0.0007	0	0	0	0.0017	2.205e-05	0.0003	0.0038	0.0005	0.0005	0.0002	0.0008	0.0036	0.0004	0.0004	0.0028	0.0026	0	0	0.0036	0	0	0	0	5.879e-05	0.0005	0.0033	0.428	0.09600	T	0.345	0.92824	T	0.0	0.02946	B	0.001	0.04355	B	0.000004	0.62929	D	0.108531	0.656902	0.33015	D	2.125	0.59049	M	-4.55	0.97753	D	-2.27	0.50666	N	0.39	0.44090	0.279	0.87222	D	0.810	0.93586	D	10	0.014040172	0.00296	T	0.07798	0.72898	D	0.395	0.71004	0.468	0.54052	0.903976142794	0.90302	0.7722326810168741	0.77173	0.128479209888	0.14485	0.516181826591	0.41089	T	0.745203	0.92975	D	-0.208964	0.19524	T	-0.0750442	0.65264	T	0.0267940643931501	0.01515	T	0.686731	0.31637	T	0.33033878	0.55499	0.12150165	0.29316	0.33033878	0.55499	0.12150165	0.29316	-4.887	0.35589	T	.	.	0.382	0.60275	A	.;.	.;.	1.893076	0.24047	16.25	0.98428285072011756	0.41364	0.36582	0.25566	N	AEFBI	0.090964	0.18430	N	-0.360333057197436	0.26896	1.471381	-0.241347461093422	0.30071	1.689988	0.742560789817965	0.23235	0.651	0.46895	0	0.708844	0.79440	0	0.547309	0.15389	0	0.668105	0.65232	0	.	.	6.04	0.676	0.17125	0.938000	0.28562	5.314000	0.48272	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.5675:0.0:0.2771:0.1554	3.651	0.07740	490	0.76723	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	801.98	37	chr2	162047005	.	A	T	801.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.74;DP=767;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=1.01;SOR=0.756	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1176	20	0	1	0
chr2	162219117	162219117	A	G	exonic	FAP	.	nonsynonymous SNV	FAP:NM_001291807:exon7:c.T478C:p.F160L	.	.	444	1071	6	1	0	8	0.00372093	.	.	707803	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.32	T	0.001	B	0.205	B	0.377	N	0.989	N	0.975	L	1.56	T	-1.027	T	0.046	T	0.094	1.980	12.58	4.48	2.307	0.183	6.017	0.096	.	0.0045	0.00379393	0.0057	0.0014	0.0025	0	0.0042	0.0081	0.0045	0.0047	0.0060284	932	154602	rs78722278	0.0077	0.0078	0.0078	0.0077	0.0090	0.0076	0.0075	0.0088	0.0088	0.0012	0.0033	0.0015	2.535e-05	0.0040	0.0072	0.0090	0.0066	0.0044	0.0052	0.0052	0.0057	0.0047	0.0088	0.0049	0.0048	0.0082	0.0080	0.0016	0	0.0032	0.0014	0	0.0037	0.0068	0.0088	0.0038	0.0052	0.644	0.04943	T	0.658	0.06554	T	0.0	0.07471	B	0.0	0.37080	B	0.376956	0.13445	N	0.706810	0.989018	0.24345	N	1.73	0.44655	L	1.56	0.29602	T	-1.25	0.31576	N	0.149	0.21449	-1.0266	0.21560	T	0.046	0.19720	T	10	0.0083857775	0.00190	T	.	.	.	0.096	0.27654	0.668	0.80602	0.332646915603	0.32870	0.544332967308418	0.54359	0.11656438583	0.13151	0.381922006607	0.22530	T	0.255272	0.62604	T	-0.619776	0.00110	T	-0.652654	0.08769	T	0.0217926043882547	0.00885	T	0.461354	0.15048	T	0.15334739	0.34764	0.11879058	0.28673	0.15334739	0.34764	0.11879058	0.28673	-6.748	0.52171	T	.	.	0.593	0.71521	P	.;.;.	.;.;.	1.656862	0.21132	15.07	0.9485787993232252	0.25665	0.28551	0.23585	N	AEFBI	0.295096	0.40530	N	-0.370313798676754	0.26531	1.44876	-0.227177701955888	0.30566	1.722142	0.998519735330986	0.37109	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.71	4.48	0.53973	0.523000	0.22632	4.512000	0.43652	0.754000	0.88378	0.008000	0.17931	1.000000	0.68203	0.998000	0.85391	0.5914:0.1215:0.0:0.2871	6.017	0.18836	355	0.85216	Dipeptidylpeptidase IV, N-terminal domain;Dipeptidylpeptidase IV, N-terminal domain;Dipeptidylpeptidase IV, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	573.98	33	chr2	162219117	.	A	G	573.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.019e+00;DP=721;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=-7.290e-01;SOR=0.678	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1009	20	0	1	0
chr2	162268086	162268086	C	T	splicing	IFIH1	NM_022168:exon14:c.2807+1G>A	.	.	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	YES	425	1072	24	1	0	26	0.0119816	1.0000	0.938	516567	not_provided|Aicardi-Goutieres_syndrome_7|Singleton-Merten_syndrome_1|Immunodeficiency_95|IFIH1-related_disorder	MedGen:C3661900|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191|MONDO:MONDO:0030692,MedGen:C5676929,OMIM:619773|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.460	23.8	4.74	2.331	7.182	18.077	.	.	0.0054	0.0061901	0.0071	0.0014	0.0039	0.0026	0.0017	0.0083	0.0093	0.0133	0.0068563	1060	154602	rs35732034	0.0089	0.0089	0.0087	0.0090	0.0206	0.0087	0.0087	0.0194	0.0189	0.0013	0.0031	0.0105	0.0206	0.0020	0.0071	0.0090	0.0079	0.0118	0.0054	0.0054	0.0059	0.0049	0.0101	0.0051	0.0050	0.0079	0.0072	0.0015	0	0.0035	0.0084	0.0079	0.0018	0.0068	0.0080	0.0085	0.0101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123313	0.66703	D	0.414742	0.92577	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.421348	0.90701	31	0.99538050422870605	0.70336	0.99640	0.98249	D	AEFBI	.	.	.	1.11613391741329	0.98421	18.23353	0.94565821059137	0.97272	15.85643	0.999999999312529	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.063197	0.01477	0	0.092715	0.02821	0	0.978623	0.82860	4.74	4.74	0.59717	7.284000	0.78011	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	18.077	0.89359	405	0.82444	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2711.11	33	chr2	162268086	.	C	T	2711.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.375;DP=809;ExcessHet=0.1072;FS=2.223;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=16.43;ReadPosRankSum=-1.350e-01;SOR=0.498	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1250	19	0	2	0
chr2	162276886	162276886	G	A	exonic	IFIH1	.	nonsynonymous SNV	IFIH1:NM_022168:exon11:c.C2105T:p.T702I,	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	.	436	1075	9	2	0	13	0.00601017	.	.	516575	Aicardi-Goutieres_syndrome_7|Singleton-Merten_syndrome_1|not_provided|IFIH1-related_disorder	MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.21	T	0.0	B	0.001	B	0.398	N	1.000	N	0.755	N	3.57	T	-0.978	T	0.006	T	0.057	1.118	9.558	-5.56	-1.907	-0.203	3.213	0.030	0.00311255286654	0.0022	0.00119808	0.0022	0.0006	0.0010	0	0.0006	0.0035	0.0022	0.0006	0.0022509	348	154602	rs72650663	0.0034	0.0034	0.0034	0.0034	0.0040	0.0033	0.0033	0.0039	0.0038	0.0006	0.0013	0.0040	0	0.0010	0.0040	0.0040	0.0038	0.0005	0.0025	0.0025	0.0028	0.0022	0.0043	0.0023	0.0022	0.0039	0.0037	0.0006	0	0.0016	0.0040	0	0.0007	0.0034	0.0043	0.0033	0.0010	0.227	0.18498	T	0.216	0.26226	T	0.0	0.02946	B	0.001	0.04355	B	0.398190	0.13161	N	0.752997	1	0.08975	N	1.04	0.26193	L	3.57	0.04645	T	-1.61	0.38734	N	0.155	0.16028	-0.9783	0.35390	T	0.006	0.01870	T	10	0.0051235557	0.00111	T	0.003113	0.06756	T	0.030	0.07022	.	.	0.154104182512	0.14974	0.14239699947887652	0.14162	0.0253377058962	0.02582	0.310032010078	0.11912	T	0.110274	0.42483	T	-0.716175	0.00029	T	-0.80152	0.01865	T	0.0012033429791264	0.00012	T	0.641436	0.26514	T	0.07622874	0.17225	0.07474176	0.16384	0.07366213	0.16476	0.09073053	0.21293	-4.842	0.35077	T	0.2081342723913996	0.27833	0.084	0.41977	B	.;.;.	.;.;.	0.056580	0.04687	1.330	0.89092026717404338	0.18504	0.07279	0.13301	N	AEFBI	0.093619	0.18940	N	-1.26431277885618	0.04113	0.1850451	-1.29815290767241	0.04456	0.2102195	0.753146186280519	0.23392	0.706548	0.73137	0	0.724815	0.89359	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.36	-5.56	0.02328	-0.177000	0.09789	0.032000	0.13746	-0.106000	0.15538	0.000000	0.06391	0.161000	0.23262	0.986000	0.61781	0.5061:0.0865:0.1488:0.2586	3.213	0.06292	446	0.79659	Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1740.11	34	chr2	162276886	.	G	A	1740.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.750;DP=807;ExcessHet=0.1072;FS=0.614;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.08;ReadPosRankSum=0.219;SOR=0.767	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1263	19	0	2	0
chr2	162310782	162310782	C	T	exonic	IFIH1	.	nonsynonymous SNV	IFIH1:NM_022168:exon2:c.G605A:p.C202Y,	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	.	433	1086	3	0	0	3	0.00137931	.	.	1359805	Aicardi-Goutieres_syndrome_7|Singleton-Merten_syndrome_1	MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.94	T	0.019	B	0.007	B	0.684	N	1.000	N	1.1	L	3.54	T	-0.926	T	0.010	T	0.091	2.646	14.81	-4.62	-0.285	-1.477	0.782	0.088	0.00284201341971	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1332221584	4.106e-06	4.104e-06	5.447e-06	2.751e-06	0.0002	1.48e-06	9.7e-07	3e-07	1.1e-07	0	2.237e-05	0	0	0	0.0002	1.799e-06	3.313e-05	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.20607	T	0.402	0.14912	T	0.001	0.17989	B	0.001	0.12992	B	0.684059	0.06107	N	1.127800	1	0.08975	N	1.04	0.26193	L	3.54	0.04799	T	-1.28	0.67589	N	0.136	0.13341	-0.9263	0.44673	T	0.010	0.03582	T	10	0.042201847	0.02947	T	0.002842	0.05956	T	0.088	0.25558	0.299	0.26522	0.112648838833	0.10856	0.3644662637610849	0.36360	0.0319382230525	0.03313	0.301425397396	0.10613	T	0.074522	0.34958	T	-0.405343	0.02135	T	-0.737158	0.04011	T	0.0322418688824803	0.02345	T	0.374863	0.13018	T	0.04297304	0.06613	0.0718158	0.15420	0.04297304	0.06612	0.0718158	0.15420	-3.909	0.22438	T	0.15098291758838348	0.17777	0.058	0.03336	B	.;.;.;.	.;.;.;.	0.726349	0.10958	7.620	0.7714561746812979	0.11755	0.02587	0.07144	N	AEFGBI	0.053460	0.09634	N	-1.12072049904176	0.06275	0.2884357	-1.13350209440212	0.07068	0.3424318	0.999994319315159	0.74766	0.615465	0.37627	0	0.581341	0.33841	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.43	-4.62	0.03129	-1.105000	0.03433	-1.716000	0.04859	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.996000	0.76049	0.4176:0.1627:0.2142:0.2056	0.782	0.00976	544	0.72685	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	995.98	33	chr2	162310782	.	C	T	995.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.149;DP=799;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.81;ReadPosRankSum=-1.511e+00;SOR=0.742	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1250	20	0	1	0
chr2	162319189	162319189	T	C	exonic	GCA	.	nonsynonymous SNV	GCA:NM_001330268:exon1:c.T55C:p.F19L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	.	.	-2.61	D	-0.360	T	0.520	D	0.188	1.686	11.60	-4.33	-0.699	-0.014	2.257	0.120	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402007510	2.626e-05	1.272e-05	1.524e-05	3.459e-05	6.695e-05	1.228e-05	9.15e-06	2.262e-05	1.352e-05	0	0	0	0	0	0	2.516e-05	0	6.695e-05	1.315e-05	1.313e-05	2.57e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.203	0.27325	T	.	.	.	.	.	.	.	.	.	.	0.999924	0.19486	N	.	.	.	-2.61	0.89953	D	-0.28	0.11547	N	.	.	-0.3605	0.73248	T	0.520	0.82072	D	6	0.13077337	0.24888	T	.	.	.	0.120	0.33359	0.268	0.21576	0.811780400679	0.81001	.	.	.	.	.	.	.	0.008036	0.07400	T	-0.0654107	0.42057	T	-0.134763	0.60568	T	0.0601408467016755	0.07192	T	0.20398	0.02363	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.598	0.68780	P	.	.	0.864336	0.12371	8.906	0.72130109512809149	0.09867	0.12595	0.17364	N	ALL	0.075179	0.15090	N	-0.709793859312907	0.15746	0.7962391	-0.92395249510533	0.11529	0.5879207	0.999999999069946	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.171818	0.04044	3	0.56214	0.19341	0	.	.	4.79	-4.33	0.03423	-0.020000	0.12466	-0.405000	0.09385	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.042000	0.14466	0.1284:0.1644:0.4175:0.2897	2.257	0.03809	548	0.72362	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	592.98	33	chr2	162319189	.	T	C	592.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=8.000e-03;DP=763;ExcessHet=0.0000;FS=1.132;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.40;ReadPosRankSum=-3.640e-01;SOR=0.452	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1135	20	0	1	0
chr2	162504451	162504451	C	T	exonic	KCNH7	.	nonsynonymous SNV	KCNH7:NM_173162:exon5:c.G1099A:p.V367M	.	.	428	1084	10	0	0	10	0.00459137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.993	D	0.000	D	1.000	D	2.43	M	-5.39	D	1.100	D	0.975	D	0.698	4.285	22.4	5.8	2.741	7.796	20.072	0.755	0.310404213189	0.0025	0.000798722	0.0029	0.0003	0.0042	0	0.0005	0.0032	0.0033	0.0053	0.002652	410	154602	rs140283570	0.0019	0.0019	0.0018	0.0021	0.0106	0.0019	0.0018	0.0085	0.0077	0.0003	0.0050	0.0150	5.044e-05	0.0003	0.0106	0.0013	0.0033	0.0055	0.0020	0.0020	0.0021	0.0019	0.0052	0.0018	0.0017	0.0043	0.0040	0.0004	0	0.0052	0.0150	0.0006	9.43e-05	0.0068	0.0017	0.0033	0.0046	0.034	0.44029	D	0.018	0.59732	D	0.895	0.90584	P	0.472	0.81110	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.31	0.66127	M	-5.39	0.99055	D	-2.55	0.55501	D	0.883	0.88137	1.100	0.99662	D	0.975	0.99208	D	10	0.012556851	0.00269	T	0.310404	0.91167	D	0.755	0.91626	.	.	0.808555340991	0.80676	0.7405230563885578	0.73997	1.08659659648	0.77305	0.881132364273	0.94112	D	0.209359	0.56955	T	-0.00731405	0.50639	T	0.218084	0.84079	D	0.0353243297365626	0.02863	T	0.982302	0.94220	D	0.32188272	0.54798	0.32474962	0.58396	0.32188272	0.54798	0.32474962	0.58395	-10.229	0.75271	D	.	.	0.987	0.93009	P	.;.;.;.	.;.;.;.	4.107997	0.61310	24.3	0.99835881412586058	0.91714	0.99733	0.99053	D	AEFI	0.941268	0.94431	D	0.74047686141982	0.82283	7.724665	0.734938057270657	0.85029	8.460028	0.999999996881388	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.8	5.8	0.92081	7.905000	0.86479	7.680000	0.65243	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.671000	0.33280	0.0:1.0:0.0:0.0	20.072	0.97725	506	0.75555	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	688.98	36	chr2	162504451	.	C	T	688.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=767;ExcessHet=0.0000;FS=0.963;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.83;ReadPosRankSum=0.236;SOR=0.933	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1183	20	0	1	0
chr2	164700559	164700559	T	C	exonic	COBLL1	.	nonsynonymous SNV	COBLL1:NM_001278461:exon9:c.A1423G:p.M475V	.	.	437	1079	6	0	0	6	0.00277264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.003	B	0.005	B	0.318	N	1.000	N	0	N	.	.	-1.050	T	0.038	T	0.078	2.046	12.80	2.8	0.925	0.915	8.044	0.016	.	0.0022	0.00199681	0.0035	0.0004	0.0004	0	0.0123	0.0043	0.0022	0.0029	0.00315	487	154602	rs141900576	0.0030	0.0030	0.0030	0.0030	0.0033	0.0029	0.0029	0.0030	0.0029	0.0004	0.0003	0.0001	2.521e-05	0.0122	0.0014	0.0029	0.0025	0.0033	0.0028	0.0028	0.0027	0.0028	0.0036	0.0026	0.0025	0.0033	0.0031	0.0002	0.0482	0.0010	0.0003	0	0.0087	0	0.0036	0.0009	0.0029	0.011	0.57480	D	0.145	0.37872	T	0.001	0.07471	B	0.004	0.10090	B	0.318224	0.14316	N	0.682893	0.999617	0.20864	N	0	0.06538	N	.	.	.	-0.78	0.21644	N	0.06	0.11340	-1.0497	0.14481	T	0.038	0.16505	T	9	0.0042711794	0.00086	T	.	.	.	0.016	0.02506	.	.	0.495172024023	0.49151	0.11217087330915451	0.11146	0.0509660031451	0.05602	0.2313554883	0.02070	T	0.00693	0.13730	T	-0.548757	0.00297	T	-0.55772	0.16591	T	0.0237639334106343	0.01115	T	0.835616	0.51177	T	0.13037585	0.30423	0.18405606	0.41434	0.13037585	0.30423	0.18405606	0.41433	-1.968	0.03062	T	.	.	0.064	0.01692	B	.;.;.;.	.;.;.;.	2.355718	0.30207	18.37	0.97296357865139094	0.33257	0.78929	0.39019	D	AEFDGBIJ	0.231509	0.35472	N	-0.464977114731216	0.23235	1.246307	-0.280005384960376	0.28757	1.605882	0.999995899434357	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.17	2.8	0.31881	0.909000	0.28180	0.687000	0.20730	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.1607:0.0:0.8393	8.044	0.29697	879	0.29470	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1647.98	33	chr2	164700559	.	T	C	1647.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.175;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.48;ReadPosRankSum=0.218;SOR=0.693	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1326	20	0	1	0
chr2	164939509	164939509	A	G	exonic	SLC38A11	.	nonsynonymous SNV	SLC38A11:NM_001351539:exon3:c.T112C:p.S38P	.	.	444	1074	4	0	0	4	0.00185874	.	.	2434660	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.269	B	0.431	B	0.001	D	0.996	D	1.78	L	4.37	T	-0.998	T	0.013	T	0.684	3.140	16.50	3.29	0.980	1.303	6.204	0.154	0.0107506147271	0.0003	.	0.0003	9.682e-05	0.0003	0	0	0.0004	0.0022	0.0002	0.0002911	45	154602	rs138491284	0.0003	0.0003	0.0002	0.0003	0.0050	0.0002	0.0002	0.0036	0.0031	0.0001	0.0003	0.0035	0	0	0.0050	0.0002	0.0007	0.0002	0.0003	0.0003	0.0003	0.0004	0.0011	0.0003	0.0002	0.0007	0.0006	9.649e-05	0	0.0011	0.0040	0	0	0	0.0002	0.0005	0.0004	0.185	0.32929	T	0.116	0.56640	T	0.228	0.31731	B	0.305	0.45421	B	0.000545	0.43413	D	0.273195	0.993092	0.42998	D	2.19	0.61577	M	4.37	0.02277	T	-2.15	0.54382	N	0.755	0.76760	-0.9981	0.30451	T	0.013	0.05225	T	10	0.07626912	0.11892	T	0.010751	0.27641	T	0.154	0.40340	.	.	0.0920862733494	0.08535	0.881095751847942	0.88077	0.37277209944	0.38762	0.485611915588	0.36831	T	0.05322	0.29381	T	-0.277027	0.10986	T	-0.32973	0.41498	T	0.369832158088684	0.27791	T	0.815518	0.47040	T	0.7433151	0.80482	0.7608945	0.85873	0.7433151	0.80484	0.7608945	0.85874	-10.354	0.87543	D	.	.	0.672	0.72197	P	.;.;.;.	.;.;.;.	2.920864	0.38776	20.8	0.99848558492442641	0.92838	0.87534	0.47104	D	AEFBI	0.598210	0.59169	D	-0.0698936984524735	0.38719	2.27201	-0.0174612701281529	0.38927	2.300438	0.924054684441534	0.26766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.87	3.29	0.36801	0.779000	0.26407	4.341000	0.43058	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.813000	0.38311	0.5919:0.2619:0.0:0.1462	6.204	0.19805	785	0.46916	.;Amino acid transporter, transmembrane domain;Amino acid transporter, transmembrane domain;Amino acid transporter, transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1768.11	33	chr2	164939509	.	A	G	1768.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.192e+00;DP=797;ExcessHet=0.1072;FS=2.201;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=-2.460e-01;SOR=0.502	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	19	0	2	0
chr2	165137933	165137933	C	T	exonic	SCN3A	.	nonsynonymous SNV	SCN3A:NM_001081676:exon15:c.G2190A:p.M730I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.954	P	0.912	D	0.000	D	1.000	D	2.705	M	-4.32	D	1.076	D	0.951	D	0.917	4.072	20.9	5.86	2.937	7.776	20.563	0.780	0.323136892332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	4.085e-06	0	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.084	0.41239	T	0.954	0.54400	P	0.701	0.64797	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.26	0.89945	M	-4.32	0.97218	D	-2.86	0.60982	D	0.785	0.78167	1.076	0.98764	D	0.951	0.98412	D	10	0.85536575	0.84731	D	0.323137	0.91534	D	0.780	0.92664	0.496	0.58520	0.771829042516	0.76973	0.870702476717794	0.87036	0.830550599152	0.67603	0.754951298237	0.75178	T	0.793875	0.94673	D	0.54092	0.95477	D	0.539217	0.95409	D	0.994473516941071	0.85785	D	0.892211	0.62852	D	0.6821321	0.77084	0.761022	0.85881	0.6821321	0.77086	0.761022	0.85881	-9.813	0.72948	D	.	.	0.955	0.90256	P	.;.;.;.;.	.;.;.;.;.	4.504972	0.70489	25.5	0.99591884360929706	0.73631	0.89705	0.50342	D	AEFDGBHCI	0.928369	0.91246	D	0.698259820597052	0.79516	7.094541	0.749335837147178	0.86105	8.784813	0.999999999999905	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	7.905000	0.86479	7.705000	0.66497	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.563	0.99337	856	0.34373	Ion transport domain;.;Ion transport domain;.;Ion transport domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1545.98	34	chr2	165137933	.	C	T	1545.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.032;DP=842;ExcessHet=0.0000;FS=1.286;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.60;ReadPosRankSum=-6.970e-01;SOR=0.553	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1277	20	0	1	0
chr2	165757106	165757106	C	T	exonic	GALNT3	.	nonsynonymous SNV	GALNT3:NM_004482:exon7:c.G1333A:p.D445N,	Tumoral calcinosis, hyperphosphatemic, familial, Autosomal recessive	.	2	1518	2	0	0	2	0.000658328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	4.335	H	0.26	T	0.767	D	0.730	D	0.351	5.522	35	5.71	2.700	7.818	19.861	0.675	0.216442516224	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1208726688	3.421e-06	3.42e-06	2.723e-06	4.126e-06	0.0002	1e-06	7.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	1.799e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.405	0.98666	H	-0.55	0.71068	T	-4.96	0.81985	D	0.899	0.95608	0.767	0.94008	D	0.730	0.90773	D	10	0.89209765	0.88554	D	0.216443	0.87559	D	0.675	0.88013	0.689	0.82653	0.976659408691	0.97641	0.8625156380424607	0.86215	0.475568717139	0.46728	0.669545412064	0.62774	T	0.665926	0.90029	D	-0.0312521	0.47235	T	-0.10114	0.63310	T	0.996877074241638	0.90265	D	0.994501	0.98160	D	0.84293735	0.86819	0.7377619	0.84500	0.84293735	0.86821	0.7377619	0.84501	-10.151	0.74811	D	0.6354635594009299	0.70543	0.613	0.77974	P	.;.;.	.;.;.	5.466916	0.91227	32	0.99928548847358944	0.99222	0.98345	0.81842	D	AEFBI	0.911651	0.87121	D	1.10922425877812	0.98301	17.91415	1.01406389482408	0.98881	19.72756	0.999999999999977	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	5.71	5.71	0.89031	7.905000	0.86479	7.708000	0.66649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.861	0.96780	672	0.60758	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1337.98	33	chr2	165757106	.	C	T	1337.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.734;DP=827;ExcessHet=0.0000;FS=0.654;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.29;ReadPosRankSum=0.325;SOR=0.594	GT:AD:DP:GQ:PL	0/1:71,59:130:99:1352,0,1668	20	0	1	0
chr2	165917310	165917310	G	A	exonic	TTC21B	.	nonsynonymous SNV	TTC21B:NM_024753:exon14:c.C1846T:p.R616C,	Nephronophthisis 12, Autosomal recessive, Autosomal dominant;Short-rib thoracic dysplasia 4 with or without polydactyly, Autosomal recessive	.	8	1446	61	7	0	75	0.0252781	.	.	136097	Connective_tissue_disorder|Asphyxiating_thoracic_dystrophy_4|not_specified|not_provided|Nephronophthisis_12|Nephronophthisis|Jeune_thoracic_dystrophy	MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819,Orphanet:474|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820,Orphanet:655|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.203	B	0.027	B	0.000	D	1.000	D	1.72	L	-0.97	T	-0.637	T	0.221	T	0.267	1.045	9.269	4.87	1.446	4.840	9.829	0.302	.	0.0017	0.00339457	0.0043	0.0002	0.0035	0	0.0008	0.0033	0.0077	0.0149	0.0038292	592	154602	rs139441507	0.0030	0.0030	0.0025	0.0035	0.0184	0.0029	0.0029	0.0155	0.0145	0.0004	0.0039	0.0095	0	0.0005	0.0184	0.0020	0.0043	0.0142	0.0028	0.0028	0.0027	0.0028	0.0147	0.0026	0.0025	0.0120	0.0110	0.0004	0	0.0049	0.0101	0	0.0005	0.0204	0.0030	0.0047	0.0147	0.064	0.36509	T	0.05	0.48080	T	0.203	0.29776	B	0.027	0.21085	B	0.000000	0.84330	D	0.049682	1	0.81001	D	2.175	0.60977	M	-0.97	0.75670	T	-5.28	0.84246	D	0.349	0.39052	-0.6367	0.63286	T	0.221	0.58421	T	10	0.00830844	0.00188	T	.	.	.	0.302	0.62290	.	.	0.551303448039	0.54786	0.38577714615857134	0.38492	0.0426891439191	0.04603	0.430218935013	0.29238	T	0.48909	0.81446	T	-0.35845	0.04218	T	-0.275341	0.47279	T	0.0938033293110174	0.11661	T	0.822518	0.48242	T	0.30039772	0.52941	0.2362269	0.48888	0.30039772	0.52941	0.2362269	0.48887	-10.082	0.74401	D	0.22474748770393416	0.30356	0.120	0.24867	B	.	.	3.004601	0.40157	21.1	0.96445822544063409	0.29844	0.92989	0.57045	D	AEFBI	0.403792	0.47734	N	-0.211373374546572	0.32666	1.844739	-0.109284935156841	0.35015	2.020792	0.903024380874154	0.26142	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.74	4.87	0.62877	4.878000	0.62786	9.834000	0.81880	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.121000	0.19209	0.0699:0.0:0.7919:0.1382	9.829	0.40098	490	0.76723	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	750.98	34	chr2	165917310	.	G	A	750.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=0.277;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1163	20	0	1	0
chr2	166311681	166311681	G	A	exonic	SCN9A	.	nonsynonymous SNV	SCN9A:NM_001365536:exon2:c.C76T:p.R26C	Epilepsy, generalized, with febrile seizures plus, type 7, Autosomal dominant;Erythermalgia, primary, Autosomal dominant;Febrile seizures, familial, 3B, Autosomal dominant;HSAN2D, autosomal recessive, Autosomal recessive;Insensitivity to pain, congenital, Autosomal recessive;Paroxysmal extreme pain disorder,, Autosomal dominant;Small fiber neuropathy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	244321	not_provided|Inborn_genetic_diseases|Neuropathy,_hereditary_sensory_and_autonomic,_type_2A|Generalized_epilepsy_with_febrile_seizures_plus,_type_7|Channelopathy-associated_congenital_insensitivity_to_pain,_autosomal_recessive|Paroxysmal_extreme_pain_disorder|Primary_erythromelalgia	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863,Orphanet:36387|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000,Orphanet:88642,Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400,Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020,Orphanet:306577,Orphanet:90026	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.991	D	.	.	1.000	D	3.48	M	-4.42	D	1.096	D	0.958	D	0.874	4.351	22.9	5.43	2.541	4.007	14.560	0.890	0.148874187306	8.2e-05	.	4.143e-05	0	0	0	0	4.499e-05	0	0.0001	3.88e-05	6	154602	rs199933920	8.485e-05	8.482e-05	7.762e-05	9.216e-05	0.0001	7.211e-05	6.798e-05	8.854e-05	8.24e-05	2.987e-05	2.236e-05	0	0	1.873e-05	0	0.0001	3.314e-05	3.479e-05	4.614e-05	4.599e-05	5.15e-05	4.052e-05	7.358e-05	2.115e-05	1.531e-05	2.849e-05	1.86e-05	4.841e-05	0	0	0	0	0	0	7.358e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	3.895	0.96086	H	-4.42	0.97560	D	-7.33	0.94566	D	0.734	0.73465	1.096	0.99503	D	0.958	0.98653	D	9	0.9600953	0.95409	D	0.148874	0.83075	D	0.890	0.96836	.	.	0.841119715736	0.83960	0.5242240896540614	0.52346	0.328951204558	0.35008	0.490849852562	0.37556	T	0.747368	0.93049	D	0.371883	0.88180	D	0.499061	0.94579	D	0.991646111011505	0.81968	D	0.911209	0.68535	D	0.5918507	0.72252	0.47515532	0.69585	0.5918507	0.72253	0.47515532	0.69585	-9.978	0.73894	D	.	.	0.170	0.44332	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.775460	0.93498	33	0.99923822713366206	0.98917	0.97379	0.74376	D	AEFI	0.793741	0.72165	D	0.880554941186118	0.90776	10.560	0.804747094414901	0.90121	10.26559	0.999998383618722	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.43	5.43	0.79006	3.470000	0.52864	8.435000	0.77180	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.853:0.1469	14.560	0.67719	574	0.70151	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	996.98	42	chr2	166311681	.	G	A	996.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.739;DP=855;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.24;ReadPosRankSum=1.10;SOR=0.783	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr2	166441505	166441505	C	T	exonic	SCN7A	.	nonsynonymous SNV	SCN7A:NM_002976:exon15:c.G2048A:p.R683Q,	.	.	12	1470	39	1	0	41	0.0137538	.	.	99990	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	1.125	L	-4.29	D	1.026	D	0.910	D	0.752	4.350	22.9	4.79	2.650	7.651	15.709	0.787	.	0.0031	0.00638978	0.0056	0.0007	0.0029	0	0	0.0039	0.0067	0.0224	0.0050517	781	154602	rs116825611	0.0037	0.0037	0.0031	0.0043	0.0206	0.0036	0.0036	0.0198	0.0195	0.0004	0.0023	0.0236	2.521e-05	0.0003	0.0115	0.0023	0.0045	0.0206	0.0026	0.0026	0.0027	0.0025	0.0203	0.0024	0.0023	0.0171	0.0159	0.0006	0	0.0012	0.0219	0	0.0002	0.0136	0.0024	0.0062	0.0203	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000110	0.50451	D	0.000000	0.999701	0.48408	D	1.595	0.40691	L	-4.29	0.97149	D	-3.94	0.73378	D	0.711	0.74462	1.026	0.97642	D	0.910	0.97012	D	10	0.013575166	0.00288	T	.	.	.	0.787	0.92948	.	.	0.986878801639	0.98673	0.7030954503724556	0.70250	0.271094702539	0.29633	0.438645839691	0.30392	T	0.738384	0.93955	D	0.0152406	0.53738	T	0.265372	0.86346	D	0.0222640236973209	0.00939	T	0.993421	0.97849	D	0.8230196	0.85424	0.73580307	0.84385	0.8230196	0.85425	0.73580307	0.84386	-7.754	0.59382	D	.	.	0.213	0.44501	B	.;.;.;.;.;.	.;.;.;.;.;.	4.937178	0.81443	27.6	0.99955698526693537	0.99975	0.98705	0.85807	D	AEFDI	0.951883	0.96684	D	0.589331314128678	0.72507	5.816814	0.554543455063248	0.71714	5.697109	0.999993935172976	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.79	4.79	0.60909	7.905000	0.86479	7.651000	0.63703	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:1.0:0.0:0.0	15.709	0.77370	539	0.73055	Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1906.98	188	chr2	166441505	.	C	T	1906.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.959;DP=887;ExcessHet=0.0000;FS=2.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=-2.930e-01;SOR=0.754	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1216	20	0	1	0
chr2	166444775	166444775	T	C	exonic	SCN7A	.	nonsynonymous SNV	SCN7A:NM_002976:exon13:c.A1613G:p.N538S,	.	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.112	N	1.000	N	-0.69	N	-4.3	D	-0.231	T	0.272	T	0.012	-0.371	2.252	-11.2	-1.564	-4.162	0.705	0.272	.	0.0002	0.00459265	0.0031	0	0	0.0353	0	0.0011	0.0054	0.0012	0.0012613	195	154602	rs78403942	0.0006	0.0006	0.0006	0.0006	0.0143	0.0006	0.0006	0.0133	0.0129	3.053e-05	2.445e-05	0.0048	0.0143	1.908e-05	0.0002	6.933e-05	0.0009	0.0006	0.0007	0.0007	0.0007	0.0007	0.0156	0.0006	0.0006	0.0129	0.0119	2.407e-05	0	0	0.0049	0.0156	9.423e-05	0	7.351e-05	0.0005	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.112093	0.02649	N	1.741270	1	0.08975	N	-1.025	0.01131	N	-4.3	0.97172	D	1.31	0.01488	N	0.029	0.01068	-0.2307	0.76869	T	0.272	0.64401	T	10	0.0064884126	0.00147	T	.	.	.	0.272	0.58758	.	.	0.539879176108	0.53640	0.06481041292915053	0.06420	0.029846534252	0.03076	0.254973471165	0.04310	T	0.452162	0.79260	T	-0.49006	0.00649	T	-0.46439	0.26123	T	0.0132908070502156	0.00238	T	0.466353	0.29103	T	0.025017047	0.01392	0.020557923	0.00142	0.025017047	0.01392	0.020557923	0.00142	-1.94	0.02963	T	.	.	0.064	0.02670	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.837804	0.01035	0.044	0.23336182578870104	0.00982	0.01202	0.04284	N	AEFI	0.082172	0.16635	N	-2.08666205034322	0.00137	0.00586314	-2.10775830047511	0.00179	0.007893968	0.996758219254748	0.34982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.96	-11.2	0.00099	-4.303000	0.00293	-4.526000	0.02112	-1.097000	0.01519	0.000000	0.06391	0.000000	0.08366	0.206000	0.22070	0.2446:0.1414:0.2306:0.3835	0.705	0.00856	542	0.72843	Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1148.98	34	chr2	166444775	.	T	C	1148.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.905;DP=806;ExcessHet=0.0000;FS=1.546;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.74;ReadPosRankSum=-1.388e+00;SOR=0.536	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1249	20	0	1	0
chr2	168935313	168935313	T	C	exonic	ABCB11	.	nonsynonymous SNV	ABCB11:NM_003742:exon23:c.A2927G:p.Q976R,	Cholestasis, benign recurrent intrahepatic, 2, Autosomal recessive;Cholestasis, progressive familial intrahepatic 2, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	285414	ABCB11-related_disorder|not_provided|Progressive_familial_intrahepatic_cholestasis_type_2	.|MedGen:C3661900|MONDO:MONDO:0011156,MedGen:C3489789,OMIM:601847,Orphanet:79304	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.68	T	0.0	B	0.002	B	0.025	N	1.000	N	-1.495	N	-2.31	D	-0.848	T	0.211	T	0.043	-0.442	1.950	2.24	0.106	0.428	10.062	0.161	0.0630471727963	0.0006	.	0.0005	0.0005	0.0002	0	0.0003	0.0007	0	0.0002	0.0004334	67	154602	rs199940188	0.0003	0.0003	0.0003	0.0004	0.0054	0.0003	0.0003	0.0039	0.0034	0.0006	0.0002	0.0055	0	5.618e-05	0.0054	0.0002	0.0008	0.0002	0.0005	0.0005	0.0005	0.0004	0.0006	0.0004	0.0004	0.0004	0.0003	0.0006	0	6.534e-05	0.0072	0	9.411e-05	0	0.0003	0.0005	0	0.769	0.03392	T	0.472	0.12176	T	0.0	0.02946	B	0.002	0.06944	B	0.025057	0.26156	N	0.418604	0.999595	0.20909	N	-1.72	0.00341	N	-2.31	0.87750	D	0.91	0.01595	N	0.148	0.15046	-0.8478	0.52120	T	0.211	0.57134	T	10	0.00719887	0.00164	T	0.063047	0.68844	D	0.161	0.41658	.	.	0.517322629239	0.51374	0.5683443633351937	0.56762	0.153187692452	0.17289	0.215077936649	0.01045	T	0.209351	0.56954	T	-0.444391	0.01219	T	-0.522079	0.20084	T	0.00169547739832152	0.00017	T	0.633437	0.24778	T	0.04173554	0.06202	0.068955116	0.14468	0.04173554	0.06201	0.068955116	0.14467	-0.944	0.00939	T	0.038667763551449054	0.00294	0.051	0.00179	B	.;.;.	.;.;.	0.023856	0.04450	1.174	0.5678593571559355	0.05627	0.10433	0.15941	N	AEFBCI	0.129535	0.24775	N	-1.26780466414973	0.04069	0.1829828	-1.0981464927333	0.07737	0.3775207	0.999871348006449	0.44625	0.549168	0.22868	0	0.627178	0.54094	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.78	2.24	0.27264	0.429000	0.21131	-0.177000	0.11169	-0.123000	0.13640	0.034000	0.20669	0.000000	0.08366	0.238000	0.22948	0.0:0.6217:0.0:0.3783	10.062	0.41452	847	0.35998	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2332.98	34	chr2	168935313	.	T	C	2332.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.810e-01;DP=881;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=0.868;SOR=0.722	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1414	20	0	1	0
chr2	168957993	168957993	A	G	exonic	ABCB11	.	nonsynonymous SNV	ABCB11:NM_003742:exon19:c.T2314C:p.Y772H,	Cholestasis, benign recurrent intrahepatic, 2, Autosomal recessive;Cholestasis, progressive familial intrahepatic 2, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.98	D	0.000	D	1.000	D	1.965	M	-2.54	D	0.705	D	0.778	D	0.812	4.000	20.5	5.23	2.100	8.190	14.384	0.882	0.354465477449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.018	0.59732	D	0.999	0.77913	D	0.98	0.74843	D	0.000001	0.84330	D	0.057607	1	0.81001	D	2.69	0.78713	M	-2.54	0.89496	D	-3.88	0.72710	D	0.877	0.87481	0.705	0.93237	D	0.778	0.92450	D	10	0.8489021	0.84062	D	0.354465	0.92354	D	0.882	0.96539	0.64	0.77687	0.93208053216	0.93138	0.7224134575175843	0.72185	0.703745904295	0.61285	0.685399889946	0.65045	T	0.75061	0.93163	D	0.299111	0.82896	D	0.191876	0.82675	D	0.988520205020905	0.78844	D	0.946405	0.79780	D	0.79101366	0.83336	0.7247084	0.83740	0.79101366	0.83338	0.7247084	0.83741	-7.757	0.59403	D	0.5092667073139988	0.58326	0.574	0.67815	P	.;.;.	.;.;.	4.797528	0.77915	26.8	0.99859804803203667	0.93820	0.97955	0.78405	D	AEFI	0.883967	0.81328	D	0.641075497400897	0.75791	6.369053	0.584908171601702	0.73857	6.03965	0.999999976934507	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.23	5.23	0.72570	8.585000	0.90589	11.046000	0.85237	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.909000	0.44452	1.0:0.0:0.0:0.0	14.384	0.66500	832	0.38914	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1123.98	33	chr2	168957993	.	A	G	1123.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.944;DP=766;ExcessHet=0.0000;FS=0.825;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=0.977;SOR=0.892	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1146	20	0	1	0
chr2	168996655	168996655	G	A	exonic	ABCB11	.	nonsynonymous SNV	ABCB11:NM_003742:exon6:c.C457T:p.L153F,	Cholestasis, benign recurrent intrahepatic, 2, Autosomal recessive;Cholestasis, progressive familial intrahepatic 2, Autosomal recessive	.	3	1518	1	0	0	1	0.000329272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.005	B	0.02	B	0.030	N	1.000	N	0.2	N	-2.66	D	-0.647	T	0.428	T	0.111	1.405	10.63	-2.07	-0.256	0.513	11.402	0.235	0.0849301488801	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866922858	7.089e-07	6.841e-06	0	1.43e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.721e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.20759	T	0.387	0.15650	T	0.005	0.12996	B	0.02	0.19048	B	0.030187	0.25345	N	0.483738	0.999842	0.20103	N	0.28	0.10031	N	-2.66	0.90272	D	-2.49	0.54217	N	0.082	0.05799	-0.6471	0.62840	T	0.428	0.77055	T	10	0.21193233	0.37637	T	0.08493	0.74428	D	0.235	0.53788	0.718	0.85319	0.395894371353	0.39203	0.6412320388184529	0.64058	0.164863425096	0.18598	0.368182957172	0.20570	T	0.639189	0.88914	D	-0.118294	0.33402	T	-0.407697	0.32492	T	0.0792102060446858	0.09885	T	0.687731	0.29668	T	0.10387171	0.24553	0.12084559	0.29160	0.10387171	0.24553	0.12084559	0.29160	-3.945	0.22978	T	0.1056859175718087	0.08407	0.060	0.00949	B	.;.	.;.	-0.140773	0.03405	0.617	0.91905495831988748	0.21226	0.07567	0.13579	N	AEFBI	0.068524	0.13523	N	-1.24575158868994	0.04356	0.1964333	-1.25818246725428	0.05011	0.2377738	0.999738369562293	0.42341	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.466023	0.07079	0	.	.	5.18	-2.07	0.06873	0.633000	0.24289	0.613000	0.20051	-0.119000	0.14319	0.133000	0.23395	0.025000	0.21018	0.030000	0.13115	0.4934:0.0:0.5066:0.0	11.402	0.49114	752	0.51611	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1179.98	33	chr2	168996655	.	G	A	1179.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.901;DP=853;ExcessHet=0.0000;FS=3.595;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=-9.940e-01;SOR=0.928	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1135	20	0	1	0
chr2	169157424	169157424	C	T	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.G11966A:p.C3989Y,	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.997	D	0.000	D	1.000	D	1.1	L	-4.52	D	1.092	D	0.933	D	0.956	4.154	21.5	5.88	2.778	7.073	19.823	0.806	0.241548340331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.98	0.85499	M	-4.52	0.97693	D	-9.97	0.98788	D	0.978	0.98840	1.092	0.99320	D	0.933	0.97809	D	10	0.8833375	0.87651	D	0.241548	0.88722	D	0.806	0.93699	0.489	0.57415	0.913727486721	0.91286	0.9963272788796702	0.99630	2.21030123888	0.95757	0.654697299004	0.60652	T	0.59122	0.86761	D	0.547699	0.95668	D	0.548955	0.95604	D	0.999599039554596	0.98068	D	0.99961	0.99838	D	0.95857286	0.97136	0.94939035	0.98363	0.95857286	0.97136	0.94939035	0.98363	-13.597	0.91673	D	.	.	0.987	0.92711	P	.;.	.;.	4.337275	0.66507	25.0	0.99730655281768066	0.82761	0.98691	0.85635	D	AEFBI	0.891640	0.82779	D	0.698004536028874	0.79502	7.091025	0.712999882364409	0.83367	8.00278	0.999999999967115	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	7.455000	0.79783	7.675000	0.64997	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0:1.0:0.0:0.0	19.823	0.96602	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.04762	1014.11	35	chr2	169157424	.	C	T	1014.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.372e+00;DP=811;ExcessHet=0.1072;FS=161.288;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=6.90;ReadPosRankSum=-2.470e-01;SOR=7.167	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,927	19	0	2	0
chr2	169157427	169157427	A	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.T11963C:p.I3988T,	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.995	D	0.756	P	0.000	D	1.000	D	0.895	L	-1.6	D	-0.077	T	0.508	D	0.777	4.016	20.6	5.88	2.242	8.453	15.949	0.747	0.127879568152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.738e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.005	0.72224	D	0.995	0.67487	D	0.756	0.56253	P	0.000003	0.62929	D	0.103381	1	0.81001	D	2.885	0.83555	M	-1.6	0.82165	D	-3.48	0.67941	D	0.626	0.64052	-0.0772	0.80616	T	0.508	0.81488	D	10	0.7716267	0.77129	D	0.12788	0.80975	D	0.747	0.91285	0.564	0.68499	0.503923442013	0.50028	0.7832040228606884	0.78271	1.78967707913	0.91486	0.593845129013	0.52036	T	0.298482	0.67104	T	0.260398	0.79567	D	0.136267	0.79302	D	0.990498244762421	0.80716	D	0.942106	0.78341	D	0.4420152	0.63532	0.4147697	0.65610	0.4420152	0.63532	0.4147697	0.65610	-6.039	0.46604	T	.	.	0.619	0.69669	P	.;.	.;.	3.722853	0.53211	23.3	0.99801365832489319	0.88639	0.99146	0.91905	D	AEFBI	0.877918	0.80286	D	0.529340372304536	0.68833	5.271924	0.581489057250946	0.73612	5.999277	0.999999961098423	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	8.806000	0.91549	11.220000	0.89740	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	1.0:0.0:0.0:0.0	15.949	0.79609	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.0625	1021.77	36	chr2	169157427	.	A	G	1021.77	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-2.196e+00;DP=874;ExcessHet=0.1072;FS=180.188;InbreedingCoeff=-0.1334;MLEAC=3;MLEAF=0.094;MQ=60.00;MQRankSum=0.00;QD=7.00;ReadPosRankSum=-2.800e-02;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:26,0:26:61:.:.:0,61,704	14	0	2	5
chr2	169157430	169157430	A	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.T11960C:p.F3987S,	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.99	D	0.743	P	0.000	D	1.000	D	0.805	L	-1.79	D	-0.037	T	0.497	T	0.833	4.275	22.3	5.88	2.242	8.453	15.949	0.820	0.122439220717	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs61995919	2.186e-06	0.0002	4.374e-06	0	2.902e-06	5.8e-07	1.6e-07	7.7e-07	2.1e-07	0	0	0	0	0	0	2.902e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.30097	T	0.0	0.92824	D	0.99	0.63424	D	0.743	0.55802	P	0.000002	0.62929	D	0.102964	1	0.81001	D	2.74	0.80084	M	-1.79	0.83815	D	-5.18	0.83557	D	0.93	0.93487	-0.0371	0.81481	T	0.497	0.80946	T	10	0.8600701	0.85222	D	0.122439	0.80341	D	0.820	0.94238	0.665	0.80300	0.61012745286	0.60699	0.9427786389111651	0.94258	2.20355478117	0.95687	0.612346053123	0.54648	T	0.344936	0.71339	T	0.305724	0.83417	D	0.201375	0.83202	D	0.992530286312103	0.83038	D	0.530047	0.17581	T	0.5582403	0.70412	0.71140873	0.82975	0.5582403	0.70413	0.71140873	0.82976	-6.333	0.48983	T	.	.	0.965	0.88693	P	.;.	.;.	4.115159	0.61465	24.3	0.99863933463691823	0.94184	0.99146	0.91905	D	AEFBI	0.876095	0.79991	D	0.536490062201209	0.69265	5.332245	0.591566982345825	0.74334	6.11932	0.999999961098423	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	8.806000	0.91549	11.220000	0.89740	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	1.0:0.0:0.0:0.0	15.949	0.79609	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.25	575.39	26	chr2	169157430	.	A	G	575.39	.	AC=2;AF=0.250;AN=8;BaseQRankSum=-5.290e-01;DP=696;ExcessHet=0.1128;FS=181.169;InbreedingCoeff=-0.3334;MLEAC=5;MLEAF=0.625;MQ=60.00;MQRankSum=0.00;QD=4.05;ReadPosRankSum=0.107;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:19,0:19:0:.:.:0,0,416	2	0	2	17
chr2	169157431	169157431	A	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.T11959C:p.F3987L,	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.043	B	0.014	B	0.000	D	1.000	D	0.46	N	-1.73	D	-0.548	T	0.351	T	0.406	2.878	15.59	5.88	2.242	5.461	15.949	0.338	0.0361222483026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.753e-05	0.0022	0.0001	8.903e-05	0.0001	8.287e-05	7.743e-05	9.794e-05	9.145e-05	3.557e-05	0	0	5.575e-05	0.0001	0	0.0001	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.40832	D	0.084	0.41239	T	0.043	0.21573	B	0.014	0.16862	B	0.000002	0.62929	D	0.102964	0.999998	0.58761	D	2.045	0.56016	M	-1.73	0.83327	D	-4.13	0.75139	D	0.626	0.64052	-0.5484	0.66847	T	0.351	0.71502	T	10	0.30924746	0.48413	T	0.036122	0.56792	D	0.338	0.66010	0.459	0.52590	0.505559545342	0.50193	0.8869475601486423	0.88663	0.901021167792	0.70643	0.635681688786	0.57951	T	0.353004	0.72036	T	0.0596301	0.59566	T	-0.152122	0.59056	T	0.97569864988327	0.71047	D	0.750125	0.37153	T	0.4331667	0.62959	0.4349336	0.66996	0.4331667	0.62959	0.4349336	0.66996	-5.635	0.43111	T	.	.	0.985	0.92330	P	.;.	.;.	3.238651	0.44194	21.9	0.99575746748544613	0.72682	0.96519	0.69544	D	AEFBI	0.619425	0.60486	D	-0.0799446757033397	0.38272	2.239039	0.131085804566848	0.46146	2.865539	0.990828206028358	0.32281	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	5.781000	0.68615	11.220000	0.89740	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	1.0:0.0:0.0:0.0	15.949	0.79609	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.25	578.39	26	chr2	169157431	.	A	G	578.39	.	AC=2;AF=0.250;AN=8;BaseQRankSum=-6.700e-02;DP=694;ExcessHet=0.1128;FS=180.188;InbreedingCoeff=-0.3334;MLEAC=5;MLEAF=0.625;MQ=60.00;MQRankSum=0.00;QD=4.10;ReadPosRankSum=0.149;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:19,0:19:0:.:.:0,0,416	2	0	2	17
chr2	169157433	169157433	C	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.G11957C:p.G3986A,	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.998	D	0.000	D	1.000	D	1.04	L	-1.65	D	0.185	D	0.622	D	0.809	3.779	19.19	5.88	2.778	7.047	19.823	0.685	0.0741312127491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0047	0.0004	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	0.0004	0	0.0001	7.766e-05	0	0	0.0004	0.0001	9.746e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.054	0.47097	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.93	0.84523	M	-1.65	0.82625	D	-4.04	0.74427	D	0.875	0.87265	0.185	0.85659	D	0.622	0.86676	D	10	0.8524667	0.84430	D	0.074131	0.71964	D	0.685	0.88490	0.577	0.70217	0.675757427234	0.67301	0.9174403899428152	0.91719	1.7735257329	0.91315	0.485903203487	0.36872	T	0.317913	0.68933	T	0.272253	0.80643	D	0.153296	0.80392	D	0.991292774677277	0.81572	D	0.875412	0.58680	D	0.4754566	0.65624	0.43292475	0.66862	0.4754566	0.65624	0.43292475	0.66862	-8.734	0.65968	D	.	.	0.383	0.58622	A	.;.	.;.	3.800135	0.54746	23.5	0.99552602734415152	0.71211	0.98963	0.89243	D	AEFBI	0.809705	0.73314	D	0.664427782730604	0.77307	6.649371	0.686270369385145	0.81334	7.502817	0.999999999967115	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	7.428000	0.79479	4.890000	0.45755	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:1.0:0.0:0.0	19.823	0.96602	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	976.96	22	chr2	169157433	.	C	G	976.96	.	AC=2;AF=0.250;AN=8;BaseQRankSum=-8.780e-01;DP=566;ExcessHet=0.1190;FS=161.151;InbreedingCoeff=-0.3523;MLEAC=5;MLEAF=0.625;MQ=60.00;MQRankSum=0.00;QD=6.65;ReadPosRankSum=0.235;SOR=7.053	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:10,0:10:0:.:.:0,0,276	2	0	2	17
chr2	169157434	169157434	C	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.G11956C:p.G3986R,	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	1.04	L	-1.66	D	0.301	D	0.629	D	0.945	4.471	23.9	5.88	2.778	7.047	19.823	0.799	0.118172883463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.487e-05	0.0016	4.341e-05	4.634e-05	6.271e-05	3.572e-05	3.242e-05	4.378e-05	4.003e-05	6.271e-05	0	0	0	0	0	5.582e-05	3.463e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.036	0.52060	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.93	0.84523	M	-1.66	0.82715	D	-5.59	0.86527	D	0.964	0.97426	0.301	0.87568	D	0.629	0.86968	D	10	0.890576	0.88398	D	0.118173	0.79815	D	0.799	0.93425	0.638	0.77470	0.80244631523	0.80060	0.9574406042201115	0.95729	1.86679822297	0.92466	0.568949699402	0.48529	T	0.474796	0.80610	T	0.414005	0.90700	D	0.356913	0.90584	D	0.996428310871124	0.89318	D	0.959004	0.84537	D	0.72273713	0.79314	0.6796857	0.81181	0.72273713	0.79316	0.6796857	0.81182	-7.652	0.58673	D	.	.	0.773	0.76054	P	.;.	.;.	4.159784	0.62465	24.5	0.99916567827365443	0.98449	0.98963	0.89243	D	AEFBI	0.835750	0.75361	D	0.685555810397683	0.78685	6.921854	0.701553584419606	0.82495	7.781566	0.999999999967115	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	7.428000	0.79479	7.675000	0.64997	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:1.0:0.0:0.0	19.823	0.96602	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.3333	581.37	22	chr2	169157434	.	C	G	581.37	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-6.740e-01;DP=565;ExcessHet=0.1190;FS=181.169;InbreedingCoeff=-0.3548;MLEAC=5;MLEAF=0.833;MQ=60.00;MQRankSum=0.00;QD=4.09;ReadPosRankSum=0.340;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:10,0:10:0:.:.:0,0,276	1	0	2	18
chr2	169157436	169157436	C	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.G11954C:p.G3985A,	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.998	D	0.000	D	1.000	D	0.895	L	-1.85	D	0.380	D	0.640	D	0.762	2.940	15.80	5.0	1.472	4.231	16.750	0.607	0.094844139814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.963e-05	0.0021	9.586e-05	8.343e-05	0.0001	7.644e-05	7.154e-05	9.486e-05	8.871e-05	3.219e-05	0	3.955e-05	0	0	0	0.0001	7.09e-05	2.388e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.37536	T	0.007	0.69154	D	1.0	0.90584	D	0.998	0.88582	D	0.000003	0.62929	D	0.103814	0.999998	0.58761	D	2.815	0.81989	M	-1.85	0.84267	D	-3.44	0.67477	D	0.682	0.68863	0.380	0.88792	D	0.640	0.87434	D	10	0.6728179	0.70815	D	0.094844	0.76324	D	0.607	0.84559	0.496	0.58520	0.827288872919	0.82565	0.8308267525920461	0.83041	1.70071209603	0.90279	0.435361415148	0.29943	T	0.269024	0.64119	T	0.221167	0.75886	D	0.0799145	0.75572	D	0.987110495567322	0.77675	D	0.963604	0.86445	D	0.24565183	0.47526	0.27967104	0.53937	0.24565183	0.47526	0.27967104	0.53936	-6.662	0.51523	T	.	.	0.250	0.48448	B	.;.	.;.	3.405079	0.47205	22.4	0.99252938159557735	0.56924	0.93755	0.59098	D	AEFBI	0.403661	0.47726	N	0.431237016008458	0.63148	4.542994	0.420543337839202	0.62847	4.507159	0.998516418245828	0.37109	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.0	0.66209	4.571000	0.60593	5.970000	0.51981	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.0:0.8707:0.1293:0.0	16.750	0.85343	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	963.13	28	chr2	169157436	.	C	G	963.13	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.077e+00;DP=842;ExcessHet=0.1072;FS=160.288;InbreedingCoeff=-0.0507;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=6.60;ReadPosRankSum=0.012;SOR=7.053	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:27,0:27:32:.:.:0,32,666	19	0	2	0
chr2	169157437	169157437	C	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.G11953C:p.G3985R,	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.000	D	1.000	D	0.55	N	-1.86	D	0.339	D	0.608	D	0.833	3.433	17.61	5.0	1.470	4.256	16.096	0.602	0.203609127207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.865e-07	0.0002	0	1.38e-06	9.03e-07	0	0	.	.	0	0	0	0	0	0	9.03e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000003	0.62929	D	0.103814	1	0.81001	D	2.815	0.81989	M	-1.86	0.84341	D	-4.75	0.80256	D	0.855	0.85132	0.339	0.88174	D	0.608	0.86081	D	10	0.7769506	0.77537	D	0.203609	0.86885	D	0.602	0.84291	0.524	0.62818	0.774801070231	0.77273	0.9005944074231604	0.90031	1.84831481728	0.92256	0.514880537987	0.40906	T	0.324763	0.69555	T	0.296866	0.82715	D	0.188651	0.82492	D	0.99759715795517	0.91939	D	0.960604	0.85218	D	0.49745262	0.66945	0.3962246	0.64269	0.49745262	0.66946	0.3962246	0.64269	-6.379	0.49345	T	.	.	0.381	0.58505	A	.;.	.;.	3.539775	0.49704	22.8	0.99893898806594628	0.96742	0.97088	0.72619	D	AEFBI	0.648092	0.62303	D	0.376887958852258	0.60170	4.203269	0.37201848805068	0.59845	4.165976	0.99903127065887	0.38264	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.0	0.66209	4.596000	0.60764	5.910000	0.51009	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.135:0.865:0.0:0.0	16.096	0.80936	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	966.36	22	chr2	169157437	.	C	G	966.36	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-2.172e+00;DP=694;ExcessHet=0.1072;FS=181.219;InbreedingCoeff=-0.1238;MLEAC=2;MLEAF=0.063;MQ=60.00;MQRankSum=0.00;QD=6.95;ReadPosRankSum=0.116;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:18,0:18:36:.:.:0,36,534	14	0	2	5
chr2	169201852	169201852	G	A	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon44:c.C8228T:p.P2743L,	Donnai-Barrow syndrome, Autosomal recessive	.	2	1519	1	0	0	1	0.000329056	.	.	881474	Donnai-Barrow_syndrome|not_provided	MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.003	B	0.006	B	0.019	N	0.999	D	1.76	L	-3.85	D	0.113	D	0.750	D	0.065	2.046	12.80	1.95	0.083	2.851	8.217	0.323	.	.	0.00339457	0.0014	9.615e-05	8.643e-05	0.0001	0	2.999e-05	0	0.0099	0.0012225	189	154602	rs545645633	0.0006	0.0006	0.0004	0.0009	0.0100	0.0006	0.0006	0.0095	0.0092	5.974e-05	2.236e-05	0	7.557e-05	0	0.0003	2.248e-05	0.0005	0.0100	0.0005	0.0005	0.0003	0.0006	0.0131	0.0004	0.0003	0.0105	0.0095	0.0001	0	6.539e-05	0	0	0	0	0	0	0.0131	0.083	0.33091	T	0.064	0.44905	T	0.003	0.11197	B	0.006	0.12133	B	0.018882	0.27379	N	0.449536	0.858408	0.35344	D	2.26	0.64354	M	-3.85	0.95859	D	-5.98	0.89334	D	0.159	0.16586	0.113	0.84415	D	0.750	0.91486	D	10	0.010917753	0.00241	T	.	.	.	0.323	0.64522	.	.	0.574083903255	0.57075	0.4756915352177819	0.47488	0.250877097189	0.27665	0.289194911718	0.08805	T	0.47695	0.80739	T	-0.350169	0.04716	T	-0.267951	0.48026	T	0.0653901046279142	0.07989	T	0.572443	0.20452	T	0.08380171	0.19368	0.13184972	0.31652	0.084529296	0.19568	0.10511958	0.25261	-6.49	0.50209	T	0.17461396263331308	0.22185	0.120	0.24633	B	.;.	.;.	2.111327	0.26872	17.27	0.95173532346114809	0.26333	0.87162	0.46619	D	AEFBI	0.250857	0.37083	N	-0.538063326759282	0.20859	1.102802	-0.475515461331866	0.22830	1.241994	0.807528867865928	0.24296	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.7	1.95	0.25130	2.937000	0.48672	3.282000	0.37238	-0.119000	0.14319	0.998000	0.41325	0.444000	0.24919	0.849000	0.40138	0.1891:0.1129:0.6981:0.0	8.217	0.30676	898	0.25240	EGF-like domain;EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.04762	2424.11	33	chr2	169201852	.	G	A	2424.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.46;DP=819;ExcessHet=0.1072;FS=1.326;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.69;ReadPosRankSum=2.24;SOR=0.844	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1227	19	0	2	0
chr2	169243519	169243519	G	A	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon23:c.C3434T:p.S1145L,	Donnai-Barrow syndrome, Autosomal recessive	.	0	1500	20	2	0	24	0.00793651	.	.	732927	not_provided|Donnai-Barrow_syndrome	MedGen:C3661900|MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.37	T	0.017	B	0.002	B	0.301	N	1.000	N	1.24	L	-2.61	D	-0.399	T	0.600	D	0.073	1.852	12.15	-3.79	-0.527	3.860	4.010	0.212	.	0.0005	0.00279553	0.0022	0.0003	0.0003	0	0	0.0006	0.0033	0.0131	0.0019017	294	154602	rs140061784	0.0011	0.0011	0.0008	0.0015	0.0135	0.0011	0.0011	0.0128	0.0126	0.0001	0.0002	0.0024	2.52e-05	3.745e-05	0.0029	0.0003	0.0010	0.0135	0.0007	0.0007	0.0006	0.0008	0.0108	0.0006	0.0005	0.0085	0.0076	0.0002	0	0.0001	0.0020	0	0	0	0.0005	0.0019	0.0108	0.219	0.19023	T	0.663	0.06666	T	0.017	0.17573	B	0.001	0.06944	B	0.301449	0.14591	N	0.697984	1	0.08975	N	1.2	0.30300	L	-2.61	0.94693	D	-1.44	0.39887	N	0.121	0.25377	-0.3992	0.72052	T	0.600	0.85744	D	10	0.0049117506	0.00105	T	.	.	.	0.212	0.50341	.	.	0.286597616719	0.28274	0.3095607499958756	0.30869	0.21176551774	0.23675	0.229382842779	0.01923	T	0.13805	0.47133	T	-0.396447	0.02443	T	-0.330569	0.41405	T	0.00840727519537807	0.00102	T	0.226477	0.02994	T	0.037257675	0.04742	0.03612422	0.02998	0.028119758	0.02102	0.04710255	0.06711	-4.564	0.31716	T	0.1891944057478603	0.24740	0.082	0.13456	B	.;.;.	.;.;.	1.351461	0.17589	13.25	0.91386738899726605	0.20652	0.07425	0.13443	N	AEFBI	0.086117	0.17460	N	-1.16989231651685	0.05460	0.248985	-1.19878718289688	0.05931	0.2839949	0.0210823319305635	0.13318	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.84	-3.79	0.04037	3.233000	0.51011	1.403000	0.26213	-0.642000	0.04431	0.157000	0.23755	0.000000	0.08366	0.003000	0.05239	0.6198:0.1197:0.1307:0.1298	4.010	0.09108	898	0.25240	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	3349.98	41	chr2	169243519	.	G	A	3349.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.137;DP=1035;ExcessHet=0.0000;FS=1.619;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.57;ReadPosRankSum=1.11;SOR=0.576	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr2	169271026	169271026	A	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon16:c.T2198C:p.M733T,	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.304	B	0.096	B	0.000	D	1.000	D	1.185	L	-2.74	D	0.063	D	0.595	D	0.186	2.997	16.00	5.77	2.326	9.197	16.395	0.355	0.0850894522534	.	.	.	.	.	.	.	.	.	.	.	.	.	rs890216396	5.475e-06	5.472e-06	2.724e-06	8.254e-06	0.0002	2.36e-06	1.7e-06	1.94e-06	1.28e-06	0	0	0	0	0	0.0002	5.398e-06	0	1.159e-05	1.973e-05	1.97e-05	3.857e-05	0	6.559e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	0	0	6.559e-05	0	0	0	0	2.942e-05	0	0	0.134	0.26300	T	0.376	0.16182	T	0.304	0.32663	B	0.096	0.30313	B	0.000234	0.47286	D	0.240515	0.999794	0.81001	D	1.52	0.38360	L	-2.74	0.90735	D	-2.89	0.60665	D	0.435	0.47395	0.063	0.83481	D	0.595	0.85543	D	10	0.34946162	0.51839	T	0.085089	0.74461	D	0.355	0.67600	0.315	0.29096	0.294470080753	0.29051	0.5401017618854287	0.53935	0.275970821921	0.30079	0.420964211226	0.27969	T	0.286641	0.65943	T	0.028363	0.55504	T	-0.197035	0.54927	T	0.872089564800262	0.52197	D	0.794521	0.43681	T	0.31138846	0.53907	0.39132914	0.63906	0.31138846	0.53907	0.39132914	0.63906	-5.968	0.46011	T	0.28125261953112424	0.37659	0.536	0.66203	A	.;.	.;.	2.876870	0.38057	20.6	0.96181587473375496	0.28960	0.99203	0.92752	D	AEFI	0.921497	0.89505	D	0.243405268721857	0.53313	3.500797	0.412361687193147	0.62332	4.447112	0.99999833400752	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.77	5.77	0.91077	9.156000	0.93862	11.103000	0.86162	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	1.0:0.0:0.0:0.0	16.395	0.83423	892	0.26670	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	883.98	34	chr2	169271026	.	A	G	883.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.534e+00;DP=770;ExcessHet=0.0000;FS=1.872;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=-1.450e-01;SOR=0.811	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,994	20	0	1	0
chr2	169510176	169510176	G	A	exonic	KLHL41	.	nonsynonymous SNV	KLHL41:NM_006063:exon1:c.G398A:p.G133D,	Nemaline myopathy 9, Autosomal recessive	.	425	1071	24	2	0	28	0.0129032	.	.	449248	KLHL41-related_disorder|not_provided|Nemaline_myopathy_9	.|MedGen:C3661900|MONDO:MONDO:0014326,MedGen:C3810384,OMIM:615731	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.57	P	0.269	B	0.001	N	0.864	N	0.575	N	-0.44	T	-0.914	T	0.123	T	0.376	1.395	10.60	4.29	1.170	2.859	9.162	0.108	.	0.0010	0.00339457	0.0022	0	0.0007	0	0.0002	0.0019	0.0044	0.0077	0.0020246	313	154602	rs147294651	0.0018	0.0018	0.0016	0.0020	0.0177	0.0017	0.0017	0.0149	0.0139	0.0004	0.0014	0.0027	2.519e-05	0.0001	0.0177	0.0014	0.0022	0.0084	0.0014	0.0014	0.0012	0.0016	0.0087	0.0012	0.0012	0.0066	0.0059	0.0001	0	0.0010	0.0026	0	0.0006	0.0204	0.0019	0.0014	0.0087	0.328	0.13219	T	0.049	0.48336	D	0.57	0.38545	P	0.269	0.39840	B	0.001129	0.40136	N	0.282731	0.864202	0.35443	D	-0.115	0.04602	N	-0.44	0.69777	T	-1.52	0.36980	N	0.544	0.57092	-0.9138	0.46377	T	0.123	0.42652	T	10	0.012224913	0.00264	T	.	.	.	0.108	0.30607	.	.	0.76546513758	0.76332	0.6215415802752295	0.62087	0.516048157862	0.49500	0.800296068192	0.82008	T	0.031423	0.22034	T	-0.38467	0.02910	T	-0.32006	0.42569	T	0.0228318363537008	0.01004	T	0.929107	0.73907	D	0.1282095	0.29981	0.15476534	0.36309	0.1282095	0.29981	0.15476534	0.36308	-3.502	0.16459	T	0.1828885386803012	0.23650	0.321	0.54580	B	.	.	4.184911	0.63024	24.5	0.97243665634822019	0.33006	0.71690	0.35122	D	AEFDGBI	0.129939	0.24831	N	0.0396674882017644	0.43668	2.655295	0.148009009140575	0.47035	2.940027	0.999994931632562	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.17	4.29	0.50359	2.933000	0.48641	9.937000	0.82626	0.618000	0.50648	0.999000	0.42656	1.000000	0.68203	0.996000	0.76049	0.0777:0.1468:0.7755:0.0	9.162	0.36191	870	0.31527	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	3472.98	233	chr2	169510176	.	G	A	3472.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.32;DP=924;ExcessHet=0.0000;FS=1.023;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.91;ReadPosRankSum=-5.910e-01;SOR=0.776	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1161	20	0	1	0
chr2	169520925	169520926	TC	-	exonic	KLHL41	.	frameshift deletion	KLHL41:NM_006063:exon5:c.1627_1628del:p.L544Vfs*14,	Nemaline myopathy 9, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2316.94	35	chr2	169520924	.	ATC	A	2316.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.300e-01;DP=843;ExcessHet=0.0000;FS=8.131;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.54;ReadPosRankSum=0.331;SOR=0.745	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1287	20	0	1	0
chr2	169608732	169608732	G	C	exonic	PPIG	.	nonsynonymous SNV	PPIG:NM_004792:exon7:c.G351C:p.K117N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.988	D	0.000	D	1.000	D	2.02	M	0.96	T	-0.794	T	0.206	T	0.418	2.371	13.89	0.397	-0.157	1.193	11.092	0.261	0.01944597803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.379e-06	7.526e-06	2.746e-06	0	2.244e-05	2.3e-07	9e-08	.	.	0	2.244e-05	0	0	0	0	9.069e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.72154	D	0.0	0.92824	D	0.999	0.90584	D	0.975	0.77976	D	0.000000	0.84330	D	0.000000	0.999973	0.53665	D	1.945	0.52268	M	0.96	0.42888	T	-4.16	0.77798	D	0.63	0.74553	-0.7942	0.55485	T	0.206	0.56458	T	10	0.52530545	0.62874	D	0.019446	0.41815	T	0.261	0.57352	0.526	0.63115	0.430901523487	0.42706	0.8581340116100287	0.85776	2.18312323932	0.95585	0.858037412167	0.90821	D	0.254366	0.62501	T	-0.0820767	0.39377	T	-0.355674	0.38553	T	0.984650313854218	0.75892	D	0.948505	0.80194	D	0.86334527	0.88342	0.718911	0.83405	0.86334527	0.88343	0.718911	0.83406	-14.686	0.95073	D	.	.	0.997	0.96865	P	.;.;.;.;.;.	.;.;.;.;.;.	3.966139	0.58200	24.0	0.96150424860349593	0.28866	0.91014	0.52693	D	AEFBI	0.577529	0.57909	D	0.27786992997667	0.55027	3.667272	0.181881338303824	0.48854	3.095905	6.26995957631514E-5	0.04366	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.06	0.397	0.15537	1.197000	0.31819	2.109000	0.30648	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.4296:0.0:0.5704:0.0	11.092	0.47339	688	0.59122	Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain;Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain;Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain;.;Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain;Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	64.72	41	chr2	169608732	.	G	C	64.72	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.466e+00;DP=1165;ExcessHet=0.1072;FS=72.029;InbreedingCoeff=-0.0486;MLEAC=1;MLEAF=0.024;MQ=59.99;MQRankSum=0.00;QD=0.33;ReadPosRankSum=1.37;SOR=8.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1242	19	0	2	0
chr2	169674590	169674590	T	-	exonic	CCDC173	.	frameshift deletion	CCDC173:NM_001085447:exon4:c.648delA:p.D217Ifs*3,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1320.94	34	chr2	169674589	.	CT	C	1320.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.081;DP=736;ExcessHet=0.0000;FS=5.105;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=-7.680e-01;SOR=1.252	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,955	20	0	1	0
chr2	169701157	169701157	A	C	exonic	PHOSPHO2	.	nonsynonymous SNV	PHOSPHO2:NM_001008489:exon4:c.A186C:p.E62D	.	.	424	1087	9	2	0	13	0.00594422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.626	P	0.266	B	0.004	U	0.897	N	2.455	M	0.86	T	-0.964	T	0.133	T	0.331	2.464	14.20	4.08	0.928	2.512	8.564	0.118	0.016711146471	0.0005	0.000798722	0.0010	0	0.0009	0.0001	0	0.0013	0.0011	0.0013	0.0009573	148	154602	rs146969607	0.0006	0.0006	0.0005	0.0007	0.0092	0.0006	0.0006	0.0072	0.0065	5.974e-05	0.0009	0.0120	0	7.489e-05	0.0092	0.0003	0.0014	0.0010	0.0006	0.0006	0.0006	0.0007	0.0008	0.0005	0.0005	0.0005	0.0004	0	0	0.0008	0.0124	0	9.413e-05	0.0068	0.0005	0.0028	0.0002	0.142	0.26965	T	0.481	0.11864	T	0.626	0.40074	P	0.266	0.39732	B	0.004346	0.33837	U	0.245763	0.897493	0.27766	N	2.89	0.83701	M	0.86	0.46777	T	-1.26	0.31778	N	0.381	0.42541	-0.9635	0.38507	T	0.133	0.44661	T	10	0.005628288	0.00125	T	0.016711	0.38094	T	0.118	0.32913	0.429	0.47680	0.278968121808	0.27521	0.6323529164696147	0.63169	0.268463197403	0.29359	0.425486952066	0.28592	T	0.026619	0.19659	T	-0.397644	0.02399	T	-0.394406	0.34036	T	0.062276395136634	0.07522	T	0.772623	0.40374	T	0.12696302	0.29723	0.114071965	0.27535	0.12696302	0.29723	0.114071965	0.27534	-5.645	0.43201	T	.	.	0.271	0.50545	B	.;.;.;.;.	.;.;.;.;.	2.252823	0.28777	17.91	0.99344614563585254	0.60331	0.92541	0.55954	D	AEFBI	0.412543	0.48257	N	0.101458427072319	0.46529	2.892026	0.146165238104342	0.46938	2.931844	0.0871879849166654	0.16028	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	5.24	4.08	0.46880	1.578000	0.36135	5.308000	0.48255	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8495:0.0:0.1505:0.0	8.564	0.32688	721	0.55360	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2248.98	33	chr2	169701157	.	A	C	2248.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.482e+00;DP=815;ExcessHet=0.0000;FS=5.568;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.30;ReadPosRankSum=-1.252e+00;SOR=0.682	GT:AD:DP:GQ:PL	0/1:49,81:130:99:2263,0,1350	20	0	1	0
chr2	170466606	170466606	G	A	exonic	MYO3B	.	nonsynonymous SNV	MYO3B:NM_001083615:exon25:c.G2909A:p.R970Q	.	.	429	1086	6	0	1	7	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.061	B	0.015	B	0.129	N	0.998	N	0.95	L	-2.2	D	-0.783	T	0.323	T	0.254	1.830	12.08	2.79	0.268	0.452	7.870	0.134	.	0.0002	0.00159744	0.0009	0.0004	0.0025	0.0001	0	0.0008	0.0044	0.0007	0.0009314	144	154602	rs35169479	0.0008	0.0008	0.0007	0.0008	0.0142	0.0007	0.0007	0.0117	0.0108	0.0006	0.0028	0	7.557e-05	0	0.0142	0.0006	0.0019	0.0009	0.0011	0.0011	0.0011	0.0011	0.0057	0.0010	0.0009	0.0047	0.0044	0.0003	0	0.0057	0	0.0002	0	0.0170	0.0008	0.0028	0.0006	0.413	0.13610	T	0.659	0.06533	T	0.006	0.23190	B	0.002	0.17295	B	0.128727	0.18720	N	0.556293	0.998107	0.22348	N	1.125	0.28843	L	-2.2	0.86888	D	-1.24	0.31375	N	0.235	0.26837	-0.7834	0.56110	T	0.323	0.69143	T	10	0.008142799	0.00185	T	.	.	.	0.134	0.36365	.	.	0.808193943808	0.80639	0.17938255528870656	0.17857	0.0864879405707	0.09766	0.244054973125	0.03167	T	0.113048	0.68737	T	-0.380408	0.03097	T	-0.316872	0.42916	T	0.00468234962152995	0.00050	T	0.770523	0.41150	T	0.06649662	0.14312	0.058361154	0.10769	0.06649662	0.14312	0.058361154	0.10769	-7.359	0.56615	T	.	.	0.066	0.03773	B	.;.;.	.;.;.	1.236001	0.16311	12.46	0.98999556298753755	0.50127	0.23319	0.22037	N	AEFDBI	0.129214	0.24730	N	-0.551617342789493	0.20433	1.077107	-0.437994493513972	0.23891	1.305305	0.0109513059057003	0.12108	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.22	2.79	0.31792	0.464000	0.21700	0.163000	0.15428	-0.123000	0.13640	0.057000	0.21666	0.000000	0.08366	0.678000	0.33484	0.4281:0.0:0.5719:0.0	7.870	0.28723	281	0.88893	.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class III myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class III myosin, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1260.98	33	chr2	170466606	.	G	A	1260.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.857;DP=815;ExcessHet=0.0000;FS=0.724;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=-2.370e-01;SOR=0.582	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1620	20	0	1	0
chr2	170716722	170716722	C	G	exonic	SP5	.	nonsynonymous SNV	SP5:NM_001003845:exon2:c.C515G:p.P172R,	.	.	416	1102	4	0	0	4	0.00181159	.	.	3333708	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.43	T	0.443	B	0.024	B	0.003	U	0.917	N	0	N	2.97	T	-0.957	T	0.010	T	0.31	0.526	6.848	2.22	0.847	-0.551	7.424	0.055	0.0572792583612	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs766975667	5.31e-05	5.267e-05	4.427e-05	6.218e-05	0.0007	4.292e-05	3.941e-05	0.0002	0.0001	0.0001	0.0002	0	0	0	0.0007	3.87e-05	0.0002	8.204e-05	7.237e-05	7.225e-05	5.144e-05	9.43e-05	0.0003	3.976e-05	3.131e-05	8.882e-05	5.39e-05	2.414e-05	0	0.0003	0	0	0	0	8.828e-05	0	0	0.124	0.27426	T	0.466	0.12386	T	0.443	0.35940	B	0.024	0.20255	B	0.002675	0.36137	U	0.179891	0.917263	0.27375	N	0	0.06538	N	2.97	0.09450	T	-0.58	0.17417	N	0.231	0.25989	-0.9573	0.39681	T	0.010	0.03856	T	10	0.08108929	0.13237	T	0.057279	0.66910	D	0.055	0.15663	0.286	0.24440	0.0884992946249	0.08302	0.43255532588836326	0.43172	.	.	0.81601524353	0.84417	D	0.075507	0.35195	T	-0.459369	0.00992	T	-0.602794	0.12577	T	0.0189691300719413	0.00606	T	0.442956	0.12306	T	0.08950668	0.20914	0.13212015	0.31711	0.08950668	0.20914	0.13212015	0.31710	-8.214	0.62519	D	.	.	0.249	0.48417	B	.	.	1.679423	0.21404	15.18	0.96255385410749661	0.29198	0.76050	0.37270	D	AEFBCI	0.222551	0.34703	N	-0.651173195377701	0.17426	0.8966121	-0.609137552563071	0.19258	1.032453	0.999996066706766	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.14	2.22	0.27116	-0.340000	0.07868	1.649000	0.27835	0.497000	0.22564	0.000000	0.06391	0.909000	0.28100	0.205000	0.22041	0.2589:0.7411:0.0:0.0	7.424	0.26260	506	0.75555	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	895.98	38	chr2	170716722	.	C	G	895.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.463;DP=815;ExcessHet=0.0000;FS=3.997;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.72;ReadPosRankSum=-1.935e+00;SOR=1.413	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1281	20	0	1	0
chr2	170859754	170859754	A	G	exonic	GAD1	.	nonsynonymous SNV	GAD1:NM_000817:exon17:c.A1657G:p.M553V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.971	D	0.556	P	0.000	D	1.000	D	3.405	M	1.44	T	-0.503	T	0.182	T	0.932	4.121	21.2	5.47	2.203	8.910	15.848	0.543	0.126744902045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.971	0.57185	D	0.556	0.49411	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.65	0.94181	H	1.44	0.32722	T	-2.86	0.60188	D	0.74	0.74007	-0.5032	0.68534	T	0.182	0.53041	T	10	0.83800626	0.82955	D	0.126745	0.80845	D	0.543	0.80960	0.44	0.49484	0.750324280283	0.74806	0.8194515200784575	0.81902	1.49074942541	0.86867	0.71763253212	0.69701	T	0.780602	0.94205	D	0.28514	0.81751	D	0.171807	0.81516	D	0.994287669658661	0.85484	D	0.996589	0.98773	D	0.90169173	0.91535	0.8760866	0.93289	0.90169173	0.91536	0.8760866	0.93289	-10.666	0.77795	D	0.6787102947863232	0.75481	0.681	0.72197	P	.	.	4.650938	0.74135	26.1	0.99541031579729955	0.70523	0.98555	0.84043	D	AEFBI	0.914899	0.87893	D	0.814834557906431	0.87026	9.077729	0.788329262131117	0.88969	9.78699	0.999999875085157	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.47	5.47	0.80345	8.947000	0.92735	11.274000	0.91505	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	15.848	0.78686	446	0.79659	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	736.98	35	chr2	170859754	.	A	G	736.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.472e+00;DP=742;ExcessHet=0.0000;FS=2.263;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=-9.500e-01;SOR=0.446	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1247	20	0	1	0
chr2	171434679	171434679	C	T	exonic	DCAF17;METTL8	.	startloss	METTL8:NM_001321157:exon1:c.G3A:p.M1?	.	.	2	1518	2	0	0	2	0.000658328	.	.	2134296	Woodhouse-Sakati_syndrome	MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0030	0	0	0	0	0	0.0083	0.0050	0.0003687	57	154602	rs369447743	0.0002	0.0002	0.0001	0.0003	0.0039	0.0002	0.0002	0.0035	0.0034	0	0	0	0	0	0	5.614e-06	0.0002	0.0039	0.0001	0.0001	5.143e-05	0.0002	0.0031	6.51e-05	5.321e-05	0.0019	0.0015	2.407e-05	0	0	0	0	0	0	0	0	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	546.98	41	chr2	171434679	.	C	T	546.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.956e+00;DP=702;ExcessHet=0.0000;FS=2.386;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.94;ReadPosRankSum=-1.850e-01;SOR=0.412	GT:AD:DP:GQ:PL	0/0:21,0:21:60:0,60,635	20	0	1	0
chr2	171787879	171787879	C	T	exonic	SLC25A12	.	nonsynonymous SNV	SLC25A12:NM_003705:exon16:c.G1654A:p.A552T,	Epileptic encephalopathy, early infantile, 39, Autosomal recessive	.	0	1517	5	0	0	5	0.00164528	.	.	537369	Developmental_and_epileptic_encephalopathy,_39|SLC25A12-related_disorder|not_provided	MONDO:MONDO:0013056,MedGen:C2751855,OMIM:612949,Orphanet:353217|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.5	T	0.327	B	0.094	B	0.000	D	1.000	D	0.635	N	-1.13	T	-0.685	T	0.278	T	0.492	3.112	16.40	5.48	2.729	5.907	19.724	0.325	0.0318555262747	0.0004	0.000599042	0.0007	0.0002	0.0002	0	0.0002	0.0005	0	0.0028	0.0006015	93	154602	rs142912356	0.0006	0.0006	0.0005	0.0007	0.0039	0.0006	0.0006	0.0035	0.0034	2.987e-05	2.236e-05	0.0023	0	3.744e-05	0.0012	0.0004	0.0005	0.0039	0.0006	0.0006	0.0006	0.0005	0.0029	0.0005	0.0004	0.0018	0.0014	0.0001	0	0.0003	0.0037	0	9.416e-05	0.0034	0.0007	0.0009	0.0029	0.333	0.13003	T	0.394	0.15305	T	0.327	0.33167	B	0.094	0.30180	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	0.415	0.12483	N	-1.13	0.77719	T	-0.9	0.24244	N	0.285	0.32259	-0.6847	0.61155	T	0.278	0.65017	T	10	0.011983365	0.00259	T	0.031856	0.53836	D	0.325	0.64725	.	.	0.625339872221	0.62229	0.7098314830250104	0.70925	0.87883234128	0.69681	0.887099981308	0.94894	D	0.193114	0.54848	T	-0.292638	0.09373	T	-0.196495	0.54978	T	0.0372505274160677	0.03200	T	0.979435	0.92911	D	0.13211493	0.30773	0.17223443	0.39463	0.13211493	0.30773	0.17223443	0.39463	-7.615	0.58415	D	0.14822123176283156	0.17239	0.102	0.18206	B	.	.	4.247249	0.64440	24.7	0.99428100312338363	0.64130	0.94155	0.60279	D	AEFDBHCI	0.737542	0.68270	D	-0.0106801311223276	0.41371	2.473384	0.169051194313836	0.48160	3.035751	0.999999999964269	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.719019	0.79029	0	0.635551	0.53088	0	.	.	5.48	5.48	0.80675	4.917000	0.63068	7.694000	0.65937	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:1.0:0.0:0.0	19.724	0.96148	570	0.70478	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1817.98	41	chr2	171787879	.	C	T	1817.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.37;DP=1000;ExcessHet=0.0000;FS=8.819;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=-8.480e-01;SOR=1.336	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr2	171868760	171868760	G	C	exonic	SLC25A12	.	nonsynonymous SNV	SLC25A12:NM_003705:exon3:c.C130G:p.L44V,	Epileptic encephalopathy, early infantile, 39, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.988	D	0.685	P	0.000	D	1.000	D	1.615	L	-2.34	D	0.415	D	0.649	D	0.522	3.141	16.50	4.77	1.615	7.198	16.230	0.608	0.172312738213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.211	0.26631	T	0.988	0.62325	D	0.685	0.53610	P	0.000051	0.53742	D	0.127979	0.999945	0.81001	D	1.74	0.45129	L	-2.34	0.87989	D	-2.61	0.56144	D	0.661	0.67045	0.415	0.89320	D	0.649	0.87762	D	10	0.7119132	0.73099	D	0.172313	0.84933	D	0.608	0.84613	0.345	0.33950	0.77984530462	0.77781	0.42970187115032454	0.42887	1.24468813859	0.81636	0.689796805382	0.65677	T	0.537436	0.84101	D	0.133401	0.67690	D	-0.0461546	0.67285	D	0.973421990871429	0.70091	D	0.966503	0.87759	D	0.5725574	0.71201	0.30958068	0.56972	0.5725574	0.71202	0.30958068	0.56971	-8.776	0.66244	D	0.5680659298809736	0.63539	0.543	0.66480	A	.	.	4.485238	0.70018	25.5	0.99598157664423459	0.74042	0.98143	0.79968	D	AEFBI	0.876672	0.80082	D	0.595340053827147	0.72882	5.876355	0.61284353438413	0.75874	6.388005	0.942851622466203	0.27541	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.65	4.77	0.60425	7.425000	0.79444	11.903000	0.99411	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.8663:0.1337	16.230	0.82154	385	0.83500	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1613.98	35	chr2	171868760	.	G	C	1613.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.186e+00;DP=811;ExcessHet=0.0000;FS=0.686;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=-2.343e+00;SOR=0.833	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1120	20	0	1	0
chr2	172427937	172427937	T	C	exonic	ITGA6	.	nonsynonymous SNV	ITGA6:NM_000210:exon1:c.T149C:p.M50T	Epidermolysis bullosa, junctional, with pyloric stenosis, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	2362573	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.995	D	0.928	D	0.000	D	1.000	D	0.715	N	-1.9	D	0.203	D	0.566	D	0.674	3.869	19.66	4.15	1.516	6.091	11.985	0.755	0.948821575032	.	0.000199681	8.497e-05	0	0	0	0	3.112e-05	0	0.0005	7.12e-05	11	154602	rs544002743	7.769e-05	7.867e-05	4.925e-05	0.0001	0.0010	6.566e-05	6.167e-05	0.0008	0.0008	0	0	0.0005	0	1.895e-05	0.0003	9.919e-06	4.99e-05	0.0010	4.603e-05	4.595e-05	2.573e-05	6.725e-05	0.0004	2.111e-05	1.528e-05	7.307e-05	3.035e-05	0	0	0	0.0012	0	0	0	1.472e-05	0	0.0004	0.002	0.72154	D	0.001	0.83351	D	0.995	0.67487	D	0.928	0.66279	D	0.000000	0.84330	D	0.041965	0.999987	0.81001	D	1.65	0.42232	L	-1.9	0.84628	D	-3.4	0.67014	D	0.638	0.70351	0.203	0.85964	D	0.566	0.84249	D	10	0.64472383	0.69259	D	0.948822	0.99647	D	0.755	0.91626	0.642	0.77903	0.907072218134	0.90614	0.8816775091988445	0.88135	1.27320162411	0.82335	0.907932519913	0.97270	D	0.53051	0.83745	D	-0.0464189	0.44989	T	0.0619884	0.74377	D	0.310756552404318	0.25445	T	0.835616	0.55187	T	0.7203372	0.79180	0.6961669	0.82110	0.7203372	0.79181	0.6961669	0.82111	-9.243	0.69248	D	.	.	0.646	0.77325	P	.;.;.;.	.;.;.;.	4.525158	0.70989	25.6	0.98921506343319743	0.48565	0.72845	0.35642	D	AEFDBCIJ	0.671159	0.63800	D	0.417211791354328	0.62369	4.451619	0.412482192057495	0.62342	4.447988	0.999999999981779	0.74766	0.733237	0.96898	0	0.491552	0.07993	0	0.504199	0.09095	0	0.621717	0.48901	0	.	.	4.15	4.15	0.47978	6.018000	0.70464	5.746000	0.49600	0.657000	0.54293	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	11.985	0.52432	732	0.54084	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1102.98	33	chr2	172427937	.	T	C	1102.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.013e+00;DP=827;ExcessHet=0.0000;FS=3.438;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.27;ReadPosRankSum=0.091;SOR=1.030	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,990	20	0	1	0
chr2	172472843	172472843	G	-	exonic	ITGA6	.	frameshift deletion	ITGA6:NM_001316306:exon5:c.371delG:p.E125Sfs*9,	Epidermolysis bullosa, junctional, with pyloric stenosis, Autosomal recessive	.	9	1512	1	0	0	1	0.000330579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0001	0	0.0010	0.0001552	24	154602	rs753926926	0.0001	0.0001	5.588e-05	0.0001	0.0011	8.857e-05	8.342e-05	0.0009	0.0008	0	8.945e-05	0	0	0	0.0007	3.599e-05	0.0001	0.0011	5.256e-05	5.253e-05	6.422e-05	4.035e-05	0.0006	2.557e-05	1.83e-05	0.0002	8.992e-05	0	0	0.0001	0	0	0	0	4.409e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2058.94	38	chr2	172472842	.	CG	C	2058.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.22;DP=858;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.60;ReadPosRankSum=-5.860e-01;SOR=0.686	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr2	172472890	172472890	G	A	exonic	ITGA6	.	nonsynonymous SNV	ITGA6:NM_001316306:exon5:c.G418A:p.G140S,	Epidermolysis bullosa, junctional, with pyloric stenosis, Autosomal recessive	.	9	1496	17	0	0	17	0.00564972	0.9830	0.826	3217787	ITGA6-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	1.000	D	.	.	0.61	T	-0.539	T	0.159	T	0.962	5.602	36	5.67	2.661	9.058	19.762	0.733	.	0.0024	0.013778	0.0105	0.0066	0.0101	0.0349	0	0.0005	0.0081	0.0433	0.0088744	1372	154602	rs74728869	0.0045	0.0044	0.0033	0.0056	0.0428	0.0044	0.0043	0.0417	0.0412	0.0073	0.0089	0.0054	0.0369	7.651e-05	0.0032	0.0001	0.0054	0.0428	0.0052	0.0052	0.0043	0.0062	0.0398	0.0049	0.0048	0.0352	0.0335	0.0074	0	0.0044	0.0058	0.0359	0	0.0034	0.0001	0.0052	0.0398	0.002	0.72154	D	0.011	0.64786	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.61	0.53516	T	-5.59	0.87760	D	0.817	0.91736	-0.5395	0.67182	T	0.159	0.49279	T	9	0.01030463	0.00230	T	0.148491	0.83040	D	0.733	0.90677	.	.	.	.	.	.	.	.	.	.	.	0.710074	0.91723	D	-0.0414729	0.45731	T	0.199067	0.83076	D	0.0785549693892789	0.09801	T	0.998091	0.99218	D	0.4176576	0.61936	0.44403628	0.67599	0.3356971	0.55934	0.44403628	0.67600	-12.317	0.86440	D	.	.	0.968	0.91905	P	.;.;.	.;.;.	3.455048	0.48129	22.6	0.99873236147270605	0.95076	0.99159	0.92098	D	AEFDBI	0.925838	0.90600	D	0.800498332863108	0.86136	8.789886	0.813540585513909	0.90720	10.53671	0.999999999999999	0.74766	0.562547	0.31514	0	0.610034	0.51514	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	5.67	5.67	0.87673	9.247000	0.94616	11.853000	0.98135	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.762	0.96317	752	0.51611	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	852.98	38	chr2	172472890	.	G	A	852.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.38;DP=818;ExcessHet=0.0000;FS=4.282;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.15;ReadPosRankSum=-9.080e-01;SOR=1.194	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr2	172491072	172491072	G	A	exonic	ITGA6	.	nonsynonymous SNV	ITGA6:NM_000210:exon21:c.G2728A:p.D910N	Epidermolysis bullosa, junctional, with pyloric stenosis, Autosomal recessive	.	1	1494	24	3	0	30	0.00994036	.	.	283701	not_provided|Junctional_epidermolysis_bullosa_with_pyloric_atresia	MedGen:C3661900|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730,Orphanet:79403	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.43	T	0.062	B	0.085	B	0.149	N	1.000	N	1.1	L	0.77	T	-1.046	T	0.073	T	0.066	1.115	9.546	5.4	2.534	1.467	9.590	0.112	0.0101160725306	0.0051	0.00239617	0.0049	0.0014	0.0048	0	0.0024	0.0072	0.0088	0.0010	0.0048318	747	154602	rs61737182	0.0063	0.0066	0.0064	0.0062	0.0079	0.0062	0.0061	0.0070	0.0069	0.0012	0.0058	0.0125	0	0.0033	0.0079	0.0071	0.0064	0.0009	0.0051	0.0051	0.0054	0.0048	0.0075	0.0048	0.0047	0.0069	0.0067	0.0016	0	0.0062	0.0133	0	0.0027	0.0238	0.0075	0.0104	0.0006	0.33	0.18000	T	0.474	0.12107	T	0.034	0.20480	B	0.085	0.29395	B	0.149179	0.18026	N	0.611073	1	0.08975	N	1.59	0.40313	L	0.77	0.49642	T	-0.37	0.17210	N	0.137	0.13484	-1.0457	0.15621	T	0.073	0.29515	T	10	0.0038841367	0.00074	T	0.010116	0.26280	T	0.112	0.31546	.	.	0.451504584351	0.44773	0.48356225979701	0.48276	0.391427431457	0.40341	0.33512198925	0.15706	T	0.058454	0.30846	T	-0.589559	0.00169	T	-0.611675	0.11849	T	0.00592956864552455	0.00065	T	0.822518	0.52285	T	0.039097063	0.05334	0.044123553	0.05645	0.033754837	0.03656	0.044123553	0.05644	-3.376	0.15490	T	.	.	0.075	0.06803	B	.;.;.;.;.;.	.;.;.;.;.;.	2.629902	0.34197	19.56	0.97738475374301148	0.35665	0.04340	0.09903	N	AEFBI	0.071059	0.14131	N	-0.395247724888842	0.25637	1.393218	-0.279890348411636	0.28761	1.606131	0.999284130369065	0.39007	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	1.499000	0.35279	11.837000	0.97708	0.618000	0.50648	0.036000	0.20778	1.000000	0.68203	0.962000	0.52141	0.1002:0.0:0.8998:0.0	9.590	0.38706	764	0.49969	.;.;Integrin alpha-2;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1164.98	33	chr2	172491072	.	G	A	1164.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.500e-02;DP=805;ExcessHet=0.0000;FS=2.415;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.22;ReadPosRankSum=-6.000e-03;SOR=0.500	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1180	20	0	1	0
chr2	173239483	173239483	G	A	exonic	MAP3K20	.	nonsynonymous SNV	MAP3K20:NM_016653:exon16:c.G1346A:p.G449E,	Split-foot malformation with mesoaxial polydactyly, Autosomal recessive	.	435	1081	6	0	0	6	0.00276753	.	.	732943	not_provided|MAP3K20-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.618	P	0.142	B	0.000	D	1.000	D	1.04	L	-1.16	T	-0.470	T	0.284	T	0.505	2.854	15.51	4.57	1.423	6.256	14.498	0.401	0.0592100354921	0.0008	0.000199681	0.0006	0	0.0007	0	0	0.0010	0.0023	0	0.0006209	96	154602	rs201693932	0.0006	0.0006	0.0006	0.0006	0.0078	0.0006	0.0006	0.0060	0.0054	0.0003	0.0009	0.0081	0	0	0.0078	0.0004	0.0014	7.021e-05	0.0006	0.0006	0.0005	0.0006	0.0010	0.0005	0.0004	0.0007	0.0005	0.0002	0	0.0010	0.0084	0	0	0	0.0004	0.0014	0.0002	0.001	0.78490	D	0.008	0.67890	D	0.618	0.39878	P	0.142	0.33681	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	.	.	.	-1.16	0.78082	T	-2.58	0.55662	D	0.408	0.44857	-0.4698	0.69732	T	0.284	0.65596	T	10	0.00909394	0.00206	T	0.05921	0.67586	D	0.401	0.71479	.	.	0.551961605406	0.54854	0.38818921169999204	0.38733	0.0977657556297	0.11029	0.774240851402	0.78060	T	0.119179	0.44052	T	-0.183627	0.23198	T	-0.109349	0.62664	T	0.0563246215232021	0.06577	T	0.813219	0.46599	T	0.5986215	0.72617	0.6721372	0.80758	0.5986215	0.72618	0.6721372	0.80759	-4.176	0.26403	T	.	.	0.684	0.72898	P	.;.	.;.	3.722095	0.53200	23.3	0.99152841760859378	0.53875	0.92419	0.55668	D	AEFBCI	0.772385	0.70672	D	0.209439392276359	0.51656	3.34518	0.321019200905475	0.56778	3.841552	0.999999971273423	0.74766	0.646311	0.45356	0	0.378119	0.05977	1	0.602189	0.34648	0	0.699875	0.68795	0	.	.	5.45	4.57	0.55860	6.360000	0.73005	7.516000	0.59690	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0707:0.0:0.9293:0.0	14.498	0.67286	869	0.31655	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1585.98	36	chr2	173239483	.	G	A	1585.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=855;ExcessHet=0.0000;FS=1.337;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=0.942;SOR=0.660	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1187	20	0	1	0
chr2	174337447	174337473	GGCGGCGGCAGCGGCGGCGGCGGCAGC	-	exonic	SP9	.	nonframeshift deletion	SP9:NM_001145250:exon2:c.1362_1388del:p.A462_A470del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1269584019	6.185e-05	5.404e-05	5.652e-05	6.755e-05	0.0004	5.013e-05	4.607e-05	7.959e-05	3.24e-05	0	0.0002	0	0	0.0009	0.0004	2.494e-05	0.0002	0	1.331e-05	1.315e-05	2.6e-05	0	.	2.21e-06	8.3e-07	.	.	0	0	0	0	0	0.0002	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1917.05	36	chr2	174337446	.	GGGCGGCGGCAGCGGCGGCGGCGGCAGC	G,GGGCGGCGGCAGC	1917.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.47;DP=844;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=17.92;ReadPosRankSum=-6.980e-01;SOR=0.663	GT:AD:DP:GQ:PL	0/0:42,0,0:42:99:0,99,1485,99,1485,1485	19	0	1	0
chr2	174337459	174337473	GGCGGCGGCGGCAGC	-	exonic	SP9	.	nonframeshift deletion	SP9:NM_001145250:exon2:c.1374_1388del:p.A466_A470del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1917.05	36	chr2	174337446	.	GGGCGGCGGCAGCGGCGGCGGCGGCAGC	G,GGGCGGCGGCAGC	1917.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.47;DP=844;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=17.92;ReadPosRankSum=-6.980e-01;SOR=0.663	GT:AD:DP:GQ:PL	0/0:42,0,0:42:99:0,99,1485,99,1485,1485	19	0	1	0
chr2	174337471	174337471	A	0	exonic	SP9	.	.	.	.	.	0	207	18	0	1	19	0.0416667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	299.08	36	chr2	174337471	.	A	G,*	299.08	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-7.930e-01;DP=814;ExcessHet=0.1072;FS=0.912;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=4.04;ReadPosRankSum=1.63;SOR=0.895	GT:AD:DP:GQ:PL	0/0:42,0,0:42:99:0,99,1485,99,1485,1485	19	0	1	0
chr2	174427809	174427809	G	A	exonic	SCRN3	.	nonsynonymous SNV	SCRN3:NM_001193528:exon8:c.G1168A:p.E390K	.	.	448	1073	1	0	0	1	0.000465766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.0	B	0.001	B	0.037	N	0.998	N	0.69	N	3.13	T	-0.952	T	0.014	T	0.095	0.579	7.125	3.18	1.125	1.737	10.713	0.037	0.00579481622044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.855e-07	6.841e-07	0	1.378e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.871	0.02600	T	0.857	0.03717	T	0.0	0.02946	B	0.0	0.01387	B	0.036770	0.24482	N	0.462578	0.998196	0.22299	N	1.15	0.29295	L	3.13	0.08014	T	-0.76	0.21215	N	0.083	0.05929	-0.9518	0.40660	T	0.014	0.05608	T	10	0.06603563	0.08997	T	0.005795	0.15042	T	0.037	0.09474	0.297	0.26202	0.0954503805726	0.09146	0.21497207247981875	0.21413	0.0306437862494	0.03170	0.317543715239	0.13048	T	0.004137	0.03552	T	-0.319909	0.06905	T	-0.697304	0.05974	T	0.459185481071472	0.31135	T	0.653935	0.26417	T	0.068817794	0.15025	0.06460189	0.12971	0.068817794	0.15024	0.06460189	0.12971	-3.845	0.22738	T	.	.	0.075	0.05360	B	.;.	.;.	2.419533	0.31107	18.64	0.73073963365336236	0.10198	0.20310	0.20993	N	AEFGBI	0.091730	0.18577	N	-0.536303928978384	0.20915	1.106119	-0.384252563665954	0.25466	1.400632	0.91814218295789	0.26563	0.732398	0.92422	0	0.743671	0.97443	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.63	3.18	0.35615	1.447000	0.34712	4.835000	0.45233	0.676000	0.76740	0.034000	0.20669	1.000000	0.68203	0.959000	0.51448	0.2762:0.0:0.7238:0.0	10.713	0.45190	910	0.22284	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1148.98	34	chr2	174427809	.	G	A	1148.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.770e-01;DP=776;ExcessHet=0.0000;FS=4.056;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=1.20;SOR=0.382	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1426	20	0	1	0
chr2	174877875	174877875	C	T	exonic	CHN1	.	nonsynonymous SNV	CHN1:NM_001371514:exon6:c.G565A:p.D189N	Duane retraction syndrome 2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.0	B	0.0	B	0.019	N	1.000	N	-0.345	N	-0.01	T	-0.991	T	0.125	T	0.044	1.646	11.46	4.03	0.795	4.077	11.569	0.084	0.00700472838458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533	0.07163	T	0.564	0.11479	T	0.0	0.02946	B	0.0	0.01387	B	0.018542	0.27457	N	0.421699	0.77319	0.29414	N	0.755	0.19153	N	-0.52	0.70717	T	-0.19	0.09965	N	0.186	0.32148	-0.9908	0.32398	T	0.125	0.43028	T	10	0.08493042	0.14287	T	0.007005	0.18541	T	0.084	0.24469	0.121	0.02793	0.426712279199	0.42290	0.43004795101742194	0.42921	0.303614151573	0.32687	0.415444612503	0.27208	T	0.093999	0.39326	T	-0.198066	0.21084	T	-0.522284	0.20064	T	0.568062543869019	0.35161	D	0.909409	0.67928	D	0.060816955	0.12522	0.048977397	0.07389	0.060816955	0.12522	0.048977397	0.07389	-3.748	0.28358	T	.	.	0.068	0.05711	B	.;.	.;.	3.167569	0.42947	21.6	0.96430523365336163	0.29792	0.91150	0.52958	D	AEFDBHIJ	0.246187	0.36699	N	-0.442411899085144	0.23998	1.292721	-0.201623711603096	0.31479	1.781831	0.999999996944252	0.74766	0.706298	0.61202	0	0.578056	0.33634	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.82	4.03	0.46115	4.108000	0.57555	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.856:0.0:0.144	11.569	0.50074	853	0.34956	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	328.02	62	chr2	174877875	.	C	T	328.02	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-2.755e+00;DP=1334;ExcessHet=0.0000;FS=57.012;InbreedingCoeff=-0.0909;MLEAC=1;MLEAF=0.031;MQ=60.00;MQRankSum=0.00;QD=3.42;ReadPosRankSum=3.13;SOR=6.184	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1219	15	0	1	5
chr2	175180135	175180135	G	A	exonic	ATP5MC3	.	nonsynonymous SNV	ATP5MC3:NM_001002258:exon2:c.C83T:p.S28L	.	.	435	1085	2	0	0	2	0.00092081	.	.	3297493	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.27	T	0.065	B	0.01	B	0.000	D	1.000	D	2.565	M	1.85	T	-1.055	T	0.098	T	0.487	4.022	20.6	6.17	2.941	9.174	20.879	0.237	0.0193731072079	7.7e-05	0.000199681	0.0002	0	0	0	0	0.0003	0	0	0.0001294	20	154602	rs144490355	9.326e-05	9.44e-05	8.519e-05	0.0001	0.0001	8.036e-05	7.504e-05	0.0001	9.534e-05	0	2.492e-05	0	0	0	0	0.0001	1.673e-05	2.421e-05	0.0001	0.0001	0.0002	8.075e-05	0.0003	9.754e-05	8.267e-05	0.0002	0.0002	0	0	0.0002	0	0	0	0	0.0003	0	0	0.115	0.28520	T	0.281	0.21612	T	0.065	0.23521	B	0.01	0.14941	B	0.000030	0.55875	D	0.124955	1	0.81001	D	1.435	0.35949	L	1.85	0.24472	T	-1.78	0.42001	N	0.505	0.53708	-1.0554	0.12934	T	0.098	0.36754	T	10	0.15115172	0.28575	T	0.019373	0.41714	T	0.237	0.54074	.	.	0.291402777868	0.28757	0.5564840736747039	0.55575	0.452744770731	0.44987	0.593698143959	0.52015	T	0.338008	0.70732	T	-0.25905	0.13011	T	-0.319741	0.42604	T	0.223903633565351	0.21657	T	0.863614	0.55989	D	0.17989533	0.39083	0.15475468	0.36305	0.17989533	0.39082	0.15475468	0.36304	-3.572	0.17453	T	.	.	0.149	0.33846	B	.;.;.	.;.;.	4.893046	0.80347	27.3	0.99644316751003559	0.76881	0.99551	0.97351	D	AEFBCI	0.951204	0.96554	D	0.377118140568312	0.60184	4.204615	0.543796060278996	0.70965	5.583735	1.0	0.98316	0.736574	0.97449	0	0.662677	0.63036	0	0.732669	0.93749	0	0.735409	0.98432	0	.	.	6.17	6.17	0.99707	9.298000	0.95235	11.907000	0.99503	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.879	0.99870	653	0.62661	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	913.98	45	chr2	175180135	.	G	A	913.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.068e+00;DP=773;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.51;ReadPosRankSum=0.894;SOR=0.741	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr2	176093094	176093094	-	GCGGCA	exonic	HOXD13	.	nonframeshift insertion	HOXD13:NM_000523:exon1:c.204_205insGCGGCA:p.A71_S72insAA,	Brachydactyly, type D, Autosomal dominant;Brachydactyly, type E, Autosomal dominant;Syndactyly, type V, Autosomal dominant;Synpolydactyly 1, Autosomal dominant	.	8	704	635	169	6	979	0.408652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0.0008	0	0	0	0.0013	0.0001035	16	154602	rs775525473	0.0001	0.0001	0.0001	0.0002	0.0016	0.0001	0.0001	0.0009	0.0008	0.0002	7.082e-05	0	0.0001	0	0.0016	7.043e-05	0.0003	0.0011	6.616e-05	6.568e-05	5.173e-05	8.128e-05	0.0006	3.539e-05	2.633e-05	0.0002	8.996e-05	0	0	0	0	0	0	0	8.907e-05	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	14698.8	35	chr2	176093094	.	G	A,GGCGGCA	14698.8	.	AC=12,1;AF=0.286,0.024;AN=42;BaseQRankSum=0.290;DP=1345;ExcessHet=1.3217;FS=0.527;InbreedingCoeff=-0.0027;MLEAC=12,1;MLEAF=0.286,0.024;MQ=60.00;MQRankSum=0.00;QD=15.77;ReadPosRankSum=0.902;SOR=0.632	GT:AD:DP:GQ:PL	0/1:44,49,0:93:99:1198,0,1037,1330,1184,2514	10	2	8	0
chr2	176100031	176100031	T	C	exonic	HOXD12	.	nonsynonymous SNV	HOXD12:NM_021193:exon1:c.T230C:p.L77P,	.	.	419	1097	6	0	0	6	0.00272727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.001	N	1.000	D	2.645	M	0.73	T	-0.562	T	0.229	T	0.33	2.428	14.08	4.12	0.843	5.187	9.528	0.217	0.226537407909	.	0.000998403	0.0012	0.0007	0.0048	0	0.0012	0.0020	0	0	0.0005951	92	154602	rs201839891	0.0011	0.0011	0.0012	0.0011	0.0018	0.0011	0.0011	0.0012	0.0012	0.0002	0.0014	0.0016	0	6.234e-05	0.0018	0.0013	0.0013	3.693e-05	0.0009	0.0009	0.0009	0.0008	0.0014	0.0007	0.0007	0.0010	0.0009	0.0002	0	0.0014	0.0017	0	0.0003	0.0068	0.0012	0.0014	0	0.051	0.41637	T	0.01	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.001356	0.39310	N	0.222876	0.999992	0.58761	D	2.69	0.78713	M	0.73	0.50721	T	-3.78	0.81910	D	0.361	0.83269	-0.5617	0.66339	T	0.229	0.59459	T	10	0.018804818	0.00413	T	0.226537	0.88049	D	0.217	0.51112	.	.	0.801191154241	0.79933	0.5866705117231026	0.58597	0.723154558357	0.62320	0.745763540268	0.73821	T	0.490089	0.81504	T	-0.368477	0.03672	T	-0.342602	0.40049	T	0.0826490995073038	0.10323	T	0.762724	0.38847	T	0.6446731	0.75080	0.6762694	0.80989	0.6446731	0.75081	0.6762694	0.80990	-3.373	0.14695	T	.	.	0.124	0.51463	B	.;.	.;.	4.021256	0.59398	24.1	0.99672388057173844	0.78652	0.92091	0.54924	D	AEFDBCI	0.681937	0.64512	D	0.521936829652896	0.68389	5.210406	0.411411761857804	0.62274	4.440194	0.99997307440619	0.50053	0.59774	0.34471	0	0.59043	0.45803	0	0.378051	0.06126	2	0.63947	0.58350	0	.	.	5.28	4.12	0.47504	5.252000	0.65263	6.214000	0.55048	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.391000	0.26581	0.0:0.0812:0.0:0.9188	9.528	0.38340	727	0.54702	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1770.98	33	chr2	176100031	.	T	C	1770.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.086e+00;DP=858;ExcessHet=0.0000;FS=1.319;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.47;ReadPosRankSum=-6.870e-01;SOR=0.575	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1297	20	0	1	0
chr2	176100106	176100106	C	A	exonic	HOXD12	.	nonsynonymous SNV	HOXD12:NM_021193:exon1:c.C305A:p.A102E,	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.6	P	0.145	B	0.391	N	1.000	N	0.755	N	1.35	T	-1.080	T	0.045	T	0.16	0.798	8.202	4.32	2.445	1.234	14.614	0.037	0.0295741275173	0.0004	0.00119808	0.0007	0	0.0002	0	0.0003	0.0012	0.0019	0.0002	0.0005563	86	154602	rs139519037	0.0007	0.0007	0.0007	0.0007	0.0016	0.0007	0.0007	0.0008	0.0008	0.0001	0.0011	0.0002	0	8.003e-05	0.0016	0.0009	0.0007	0.0001	0.0007	0.0007	0.0007	0.0008	0.0037	0.0006	0.0006	0.0029	0.0026	0.0001	0	0.0037	0	0	9.414e-05	0	0.0007	0.0019	0	0.286	0.15201	T	0.342	0.20811	T	0.165	0.39325	B	0.112	0.33871	B	0.390922	0.13256	N	0.742186	1	0.08975	N	0.755	0.19153	N	1.35	0.34648	T	-0.47	0.15986	N	0.252	0.28498	-1.0797	0.07407	T	0.045	0.19275	T	10	0.0060472786	0.00136	T	0.029574	0.52060	D	0.037	0.09474	.	.	0.425028116352	0.42120	0.36426639096688446	0.36340	0.172866943843	0.19464	0.473130345345	0.35111	T	0.091621	0.38833	T	-0.489415	0.00655	T	-0.545947	0.17716	T	0.0130447424049978	0.00227	T	0.671933	0.28057	T	0.1740911	0.38194	0.2868034	0.54689	0.1740911	0.38194	0.2868034	0.54688	-5.281	0.39754	T	.	.	0.166	0.43975	B	.;.	.;.	1.664887	0.21229	15.11	0.95862643420528737	0.28025	0.37983	0.25885	N	AEFDBCI	0.113130	0.22334	N	-0.424163722589385	0.24624	1.330945	-0.40062023031646	0.24979	1.370997	0.998777089512567	0.37645	0.59774	0.34471	0	0.59043	0.45803	0	0.378051	0.06126	2	0.63947	0.58350	0	.	.	5.22	4.32	0.50899	1.360000	0.33729	2.363000	0.32383	0.599000	0.40250	0.011000	0.18532	0.063000	0.22074	0.936000	0.47498	0.0:0.8151:0.1849:0.0	14.614	0.68132	727	0.54702	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1871.98	33	chr2	176100106	.	C	A	1871.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.013;DP=988;ExcessHet=0.0000;FS=1.148;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.17;ReadPosRankSum=-9.600e-02;SOR=0.753	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1297	20	0	1	0
chr2	176117099	176117099	G	A	exonic	HOXD10	.	nonsynonymous SNV	HOXD10:NM_002148:exon1:c.G266A:p.R89Q,	Charcot-Marie-Tooth disease, foot deformity of, Autosomal dominant;Vertical talus, congenital, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	285876	not_provided|Congenital_vertical_talus	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001835,Human_Phenotype_Ontology:HP:0001838,Human_Phenotype_Ontology:HP:0004693,Human_Phenotype_Ontology:HP:0010218,MONDO:MONDO:0008652,MedGen:C0240912,OMIM:192950,Orphanet:178382	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.1	T	0.991	D	0.557	P	0.000	D	1.000	D	2.94	M	1.43	T	-0.726	T	0.167	T	0.854	4.294	22.5	5.73	2.699	9.476	19.490	0.413	0.053365571699	7.7e-05	.	8.237e-05	9.612e-05	0	0	0	0.0001	0	0	7.12e-05	11	154602	rs374700658	7.525e-05	7.524e-05	7.214e-05	7.838e-05	0.0024	6.382e-05	5.938e-05	0.0015	0.0012	2.987e-05	4.472e-05	0	0	0	0.0024	7.554e-05	6.623e-05	5.797e-05	5.91e-05	5.905e-05	5.14e-05	6.715e-05	0.0002	3.076e-05	2.209e-05	4.765e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0.0005	0.0002	0.001	0.78490	D	0.003	0.76473	D	0.991	0.64070	D	0.557	0.49454	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.06	0.86941	M	1.43	0.32958	T	-3.03	0.62747	D	0.822	0.81758	-0.7256	0.59184	T	0.167	0.50599	T	10	0.8372341	0.82879	D	0.053366	0.65439	D	0.413	0.72404	.	.	0.720936860749	0.71847	0.6714783670957326	0.67085	0.417033127101	0.42332	0.682498157024	0.64628	T	0.702251	0.91437	D	0.0625562	0.59934	T	0.077783	0.75430	D	0.919317245483398	0.57797	D	0.988551	0.96078	D	0.6491992	0.75321	0.6710455	0.80698	0.6491992	0.75323	0.6710455	0.80699	-4.442	0.30122	T	.	.	0.287	0.51925	B	.	.	6.722911	0.95643	35	0.99935724241445467	0.99579	0.99220	0.93002	D	AEFDBI	0.926660	0.90811	D	0.853128558413981	0.89286	9.909679	0.856946960097362	0.93417	12.02764	0.999999999999639	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	5.73	5.73	0.89730	9.602000	0.97623	11.836000	0.97677	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.490	0.95038	719	0.55657	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2969.98	39	chr2	176117099	.	G	A	2969.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.830e-01;DP=950;ExcessHet=0.0000;FS=3.609;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.58;ReadPosRankSum=0.094;SOR=0.506	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1280	20	0	1	0
chr2	176169227	176169227	C	T	exonic	HOXD3	.	nonsynonymous SNV	HOXD3:NM_006898:exon3:c.C113T:p.T38M,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.245	B	0.095	B	0.004	N	0.995	N	0	N	-2.47	D	-0.477	T	0.346	T	0.279	3.175	16.62	4.43	1.335	2.074	12.198	0.296	0.125538777739	0.0020	0.00239617	0.0010	0.0069	0.0007	0.0001	0	0.0001	0	0.0018	0.0008732	135	154602	rs75250034	0.0004	0.0004	0.0004	0.0004	0.0067	0.0004	0.0004	0.0059	0.0057	0.0067	0.0007	7.652e-05	0	0	0.0002	0.0002	0.0006	0.0016	0.0021	0.0021	0.0021	0.0021	0.0069	0.0019	0.0018	0.0063	0.0060	0.0069	0	0.0012	0	0.0002	0	0.0034	0.0001	0.0005	0.0008	0.007	0.63226	D	0.017	0.60337	D	0.245	0.31074	B	0.095	0.30245	B	0.004259	0.33945	N	0.348948	0.994977	0.23401	N	1.445	0.36358	L	-2.47	0.88997	D	-2.07	0.47344	N	0.339	0.39153	-0.4773	0.69465	T	0.346	0.71083	T	10	0.008280486	0.00188	T	0.125539	0.80707	D	0.296	0.61616	.	.	0.894152575574	0.89310	0.28164369580082327	0.28077	.	.	0.364167243242	0.19991	T	0.342794	0.71152	T	-0.309033	0.07833	T	-0.213095	0.53399	T	0.0150988276773107	0.00327	T	0.822518	0.48242	T	0.061668914	0.12795	0.0852064	0.19658	0.061668914	0.12795	0.0852064	0.19657	-3.691	0.19185	T	.	.	0.119	0.26794	B	.;.;.	.;.;.	3.139192	0.42451	21.5	0.99801618769258038	0.88639	0.50390	0.28652	D	AEFBI	0.389186	0.46850	N	-0.36409199744194	0.26757	1.462778	-0.243420437521962	0.29997	1.685314	0.97045366423147	0.29209	0.646311	0.45356	0	0.59043	0.45803	0	0.563428	0.18855	0	0.699875	0.68795	0	.	.	5.32	4.43	0.52967	2.157000	0.41946	4.794000	0.44921	0.599000	0.40250	0.013000	0.18845	0.994000	0.32194	0.558000	0.30364	0.0:0.8281:0.1719:0.0	12.198	0.53618	515	0.74782	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2135.98	34	chr2	176169227	.	C	T	2135.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.77;DP=895;ExcessHet=0.0000;FS=10.470;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.37;ReadPosRankSum=1.82;SOR=0.566	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1288	20	0	1	0
chr2	176189918	176189918	A	T	exonic	HOXD1	.	nonsynonymous SNV	HOXD1:NM_024501:exon2:c.A763T:p.T255S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.983	D	0.921	D	0.000	D	1.000	D	0.375	N	-3.66	D	0.448	D	0.757	D	0.617	4.160	21.5	4.26	0.869	3.528	8.150	0.736	0.0884815162883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.23813	T	0.212	0.26549	T	0.938	0.52538	P	0.921	0.65636	D	0.000144	0.49130	D	0.000000	1	0.81001	D	0.135	0.08676	N	-3.66	0.95212	D	-3.18	0.64478	D	0.308	0.34767	0.448	0.89799	D	0.757	0.91735	D	10	0.57259506	0.65402	D	0.088482	0.75141	D	0.736	0.90808	0.515	0.61459	0.960626690416	0.96021	0.676609743728485	0.67599	.	.	0.780120611191	0.78946	T	0.746474	0.93019	D	0.189249	0.72894	D	0.034066	0.72542	D	0.96618926525116	0.67503	D	0.659534	0.26859	T	0.20756184	0.42965	0.18542121	0.41655	0.20756184	0.42965	0.18542121	0.41654	-6.908	0.53358	T	.	.	0.467	0.63028	A	.	.	4.222614	0.63876	24.6	0.98951323167211169	0.49150	0.88991	0.49196	D	AEFDBCIJ	0.410575	0.48139	N	0.28218980741981	0.55244	3.688723	0.318460575462181	0.56623	3.826055	0.99999855861839	0.74766	0.72623	0.87236	0	0.563428	0.19063	0	0.596491	0.31596	0	0.603991	0.37454	0	.	.	5.45	4.26	0.49832	2.453000	0.44627	9.362000	0.80382	0.756000	0.94297	0.995000	0.38783	1.000000	0.68203	0.997000	0.79791	0.7279:0.139:0.0:0.1331	8.150	0.30295	529	0.73716	Homeobox domain|Homeobox domain, metazoa|Homeobox domain|Homeobox domain|Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1547.98	33	chr2	176189918	.	A	T	1547.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.150e-01;DP=829;ExcessHet=0.0000;FS=1.560;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=0.202;SOR=0.879	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr2	178072267	178072267	A	-	exonic	PDE11A	.	frameshift deletion	PDE11A:NM_016953:exon1:c.171delT:p.T58Pfs*41,	Pigmented nodular adrenocortical disease, primary, 2, Autosomal dominant	.	0	1435	82	5	0	92	0.0310601	.	.	205134	Pigmented_nodular_adrenocortical_disease,_primary,_2|not_specified|PDE11A-related_disorder|Bardet-Biedl_syndrome_16|not_provided	MONDO:MONDO:0012505,MedGen:C1864851,OMIM:610475,Orphanet:189439|MedGen:CN169374|.|MONDO:MONDO:0014444,MedGen:C3889474,OMIM:615993,Orphanet:110|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.00938498	0.0065	0.0003	0.0005	0.0002	0.0002	0.0014	0.0070	0.0396	0.0004226	11	26028	rs529789124	0.0031	0.0031	0.0019	0.0044	0.0394	0.0031	0.0030	0.0383	0.0378	0.0002	0.0004	0.0093	5.039e-05	1.873e-05	0.0196	0.0005	0.0041	0.0394	0.0018	0.0018	0.0012	0.0025	0.0410	0.0017	0.0016	0.0363	0.0345	0.0001	0	0.0009	0.0069	0.0002	0	0.0034	0.0005	0.0024	0.0410	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3666.07	35	chr2	178072266	.	TA	T	3666.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.58;DP=991;ExcessHet=0.1072;FS=3.898;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=17.46;ReadPosRankSum=0.744;SOR=0.482	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	19	0	2	0
chr2	178324247	178324247	C	T	exonic	OSBPL6	.	nonsynonymous SNV	OSBPL6:NM_145739:exon2:c.C110T:p.P37L	.	.	430	1056	34	2	0	38	0.0176744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.201	B	0.035	B	0.137	N	0.984	D	0.895	L	1.25	T	-1.089	T	0.061	T	0.269	2.720	15.05	4.97	2.797	1.481	10.481	0.025	.	0.0019	0.00698882	0.0087	0.0007	0.0021	0.0003	0	0.0045	0.0073	0.0305	0.0042884	663	154602	rs34874235	0.0037	0.0038	0.0031	0.0043	0.0243	0.0036	0.0036	0.0235	0.0231	0.0005	0.0012	0.0001	7.729e-05	5.868e-05	0.0097	0.0027	0.0037	0.0243	0.0023	0.0023	0.0022	0.0025	0.0247	0.0021	0.0021	0.0211	0.0197	0.0006	0	0.0012	0.0003	0.0002	0.0003	0	0.0027	0.0028	0.0247	0.022	0.65419	D	0.184	0.47336	T	0.065	0.29693	B	0.032	0.22741	B	0.136896	0.18431	N	0.560099	0.982406	0.40094	D	0	0.06538	N	1.25	0.36512	T	-1.14	0.38734	N	0.302	0.35194	-1.0895	0.05616	T	0.061	0.25635	T	10	0.0038985908	0.00074	T	.	.	.	0.025	0.05312	.	.	0.0675242888579	0.06100	0.2651952141909519	0.26432	0.343719139583	0.36299	0.414854466915	0.27127	T	0.013066	0.11369	T	-0.501483	0.00561	T	-0.474868	0.24994	T	0.00769843631727962	0.00090	T	0.957104	0.83854	D	0.07133131	0.15784	0.062420767	0.12208	0.07133131	0.15783	0.062420767	0.12208	-4.84	0.36655	T	.	.	0.071	0.11172	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.386064	0.46858	22.4	0.99623548177428622	0.75594	0.55822	0.29961	D	AEFDBI	0.084559	0.17137	N	-0.0939410315234078	0.37659	2.194098	0.0889973802018762	0.43994	2.689787	0.998386936897328	0.36869	0.615465	0.37627	0	0.563428	0.19063	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.9	4.97	0.65419	1.533000	0.35645	.	.	0.599000	0.40250	0.891000	0.31220	1.000000	0.68203	0.711000	0.34484	0.2265:0.6504:0.1231:0.0	10.481	0.43878	322	0.86904	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1616.11	35	chr2	178324247	.	C	T	1616.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.384;DP=789;ExcessHet=0.1072;FS=5.610;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=1.70;SOR=1.224	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	19	0	2	0
chr2	178436319	178436319	-	TAAAGAAATGTGGTTCTCTGGAGAAATATTACTAAATTTGGCAAGAAATTTCTCAGCAGCATTC	exonic	PRKRA	.	stopgain	PRKRA:NM_001139517:exon6:c.576_577insGAATGCTGCTGAGAAATTTCTTGCCAAATTTAGTAATATTTCTCCAGAGAACCACATTTCTTTA:p.T193Efs*4	Dystonia 16, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1037095	Dystonia_16	MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067,Orphanet:210571	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0007	0.0003	0.0005	0	0.0005	0	0	0.000461	12	26028	.	0.0004	0.0005	0.0003	0.0006	0.0129	0.0004	0.0004	0.0106	0.0097	5.978e-05	8.947e-05	0.0001	0.0007	0.0011	0.0129	0.0004	0.0003	0.0004	0.0010	0.0015	0.0010	0.0010	0.0016	0.0009	0.0008	0.0010	0.0009	0.0005	0.0011	0.0009	0.0006	0.0016	0.0010	0.0068	0.0012	0.0009	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1646.07	75	chr2	178436319	.	T	TTAAAGAAATGTGGTTCTCTGGAGAAATATTACTAAATTTGGCAAGAAATTTCTCAGCAGCATTC	1646.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.08;DP=1193;ExcessHet=0.1072;FS=7.603;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.85;ReadPosRankSum=0.217;SOR=0.335	GT:AD:DP:GQ:PL	0/0:29,0:29:81:0,81,1215	19	0	2	0
chr2	178450414	178450414	-	AAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAGAAGGGACGGCT	exonic	PRKRA	.	stopgain	PRKRA:NM_001139517:exon1:c.29_30insAGCCGTCCCTTCTCGCCCTGTCCCAGAGCAGGCACCGCCGAGGCCCCGCCGCTGGAGCGCGAGGACAGTGGGACCTT:p.C10*,	Dystonia 16, Autosomal recessive	.	1	1390	34	0	97	131	0.0120824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.942e-05	4.241e-05	3.131e-05	2.751e-05	5.397e-06	2.217e-05	1.97e-05	1.94e-06	1.28e-06	0	0	3.826e-05	0	0.0007	0	5.397e-06	1.656e-05	0	0.0020	0.0032	0.0019	0.0020	0.0029	0.0018	0.0017	0.0018	0.0015	0.0019	0.0044	0.0024	0.0020	0.0015	0.0023	0	0.0018	0.0033	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	10094.64	181	chr2	178450414	.	G	GAAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAGAAGGGACGGCT	10094.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.69;DP=2294;ExcessHet=0.3300;FS=1.952;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.81;ReadPosRankSum=-6.762e+00;SOR=0.868	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1226	18	0	3	0
chr2	178454393	178454393	G	T	exonic	PJVK	.	nonsynonymous SNV	PJVK:NM_001369912:exon2:c.G273T:p.R91S	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.89	T	0.991	D	0.987	D	0.005	U	1.000	D	1.04	L	2.17	T	-0.913	T	0.053	T	0.933	1.937	12.43	1.36	0.289	0.183	3.296	0.050	0.0138271386833	8.4e-05	.	8.286e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs372693130	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.20230	T	0.0	0.92824	D	0.991	0.64070	D	0.987	0.77487	D	0.004769	0.33407	U	0.000000	0.999845	0.49770	D	1.045	0.26769	L	2.17	0.19020	T	0.08	0.06026	N	0.695	0.70000	-0.9126	0.46531	T	0.053	0.22539	T	10	0.30663106	0.48172	T	0.013827	0.33526	T	0.284	0.60219	0.491	0.57732	0.20549828249	0.20151	0.4981314221047082	0.49734	0.461855285749	0.45726	0.610638022423	0.54406	T	0.026981	0.19857	T	0.135671	0.67911	D	-0.0428951	0.67505	D	0.449941027428168	0.30795	T	0.868613	0.57103	D	0.09232867	0.21659	0.07326512	0.15901	0.09232867	0.21658	0.07326512	0.15901	-2.576	0.06323	T	0.1206592918906045	0.11369	0.338	0.58534	B	.;.;.;.	.;.;.;.	2.563647	0.33207	19.27	0.98600200561967488	0.43493	0.78305	0.38613	D	AEFBI	0.305244	0.41272	N	0.0304841594689505	0.43246	2.62127	0.0130931849935305	0.40320	2.404528	0.0659071927878773	0.15375	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.41	1.36	0.21139	0.189000	0.16845	.	.	0.676000	0.76740	0.952000	0.33172	1.000000	0.68203	0.997000	0.79791	0.458:0.0:0.3615:0.1806	3.296	0.06555	331	0.86429	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	787.98	33	chr2	178454393	.	G	T	787.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.699e+00;DP=760;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=-3.450e-01;SOR=0.743	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1239	20	0	1	0
chr2	178503801	178503801	G	A	exonic	PLEKHA3	.	nonsynonymous SNV	PLEKHA3:NM_019091:exon8:c.G817A:p.A273T,	.	.	429	1079	14	0	0	14	0.00644567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.0	B	0.001	B	0.042	N	0.902	N	-0.345	N	2.63	T	-0.965	T	0.011	T	0.06	0.997	9.070	0.758	0.058	1.115	3.869	0.115	.	0.0008	0.00399361	0.0033	0.0002	0.0009	0.0001	0	0.0011	0.0011	0.0192	0.0027878	431	154602	rs145044786	0.0016	0.0016	0.0011	0.0022	0.0181	0.0016	0.0015	0.0173	0.0170	0.0002	0.0006	0.0015	0.0001	0	0.0033	0.0005	0.0025	0.0181	0.0015	0.0015	0.0013	0.0016	0.0222	0.0013	0.0012	0.0188	0.0175	0.0002	0	0.0016	0.0012	0	0	0	0.0011	0.0014	0.0222	0.26	0.16574	T	0.707	0.05582	T	0.0	0.02946	B	0.001	0.04355	B	0.042380	0.23849	N	0.464010	0.90154	0.27690	N	0.55	0.14455	N	2.63	0.12884	T	-0.24	0.10833	N	0.024	0.00445	-0.9654	0.38132	T	0.011	0.04321	T	10	0.0019107759	0.00026	T	.	.	.	0.115	0.32236	.	.	0.248417906384	0.24464	0.13601584638444106	0.13525	0.387255995529	0.40007	0.339420676231	0.16351	T	0.022339	0.17240	T	-0.678852	0.00049	T	-0.733621	0.04166	T	0.0108611034300655	0.00155	T	0.751525	0.37371	T	0.03181383	0.03091	0.047337435	0.06798	0.03181383	0.03090	0.047337435	0.06797	-3.032	0.10530	T	.	.	0.071	0.03773	B	.	.	1.641845	0.20951	14.98	0.7718937070749986	0.11773	0.85205	0.44317	D	AEFGBI	0.105423	0.21064	N	-0.612414703231113	0.18570	0.9651844	-0.408913275132726	0.24735	1.356198	0.892687780450018	0.25889	0.706548	0.73137	0	0.653731	0.59785	0	0.670488	0.60580	0	0.714379	0.83352	0	.	.	5.85	0.758	0.17579	1.173000	0.31529	.	.	0.676000	0.76740	1.000000	0.71638	0.996000	0.32793	0.999000	0.91618	0.2912:0.0:0.4495:0.2593	3.869	0.08533	322	0.86904	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2575.06	33	chr2	178503801	.	G	A	2575.06	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=909;ExcessHet=0.0000;FS=2.889;InbreedingCoeff=-0.0294;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=2.27;SOR=0.783	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	20	0	1	0
chr2	178533468	178533468	C	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon186:c.G75952C:p.E25318Q	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	0	1509	13	0	0	13	0.00428901	.	.	136136	not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Cardiomyopathy|not_provided|Cardiovascular_phenotype|Tip-toe_gait	MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MedGen:CN230736|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.999	D	0.979	D	.	.	1.000	D	1.07	L	-0.31	T	-0.325	T	0.312	T	0.342	4.072	20.9	5.74	2.712	7.794	19.503	0.312	.	0.0006	0.00219649	0.0033	0	0.0004	0	0.0251	0.0015	0.0122	0.0074	0.0028784	445	154602	rs148525155	0.0024	0.0024	0.0023	0.0024	0.0072	0.0023	0.0023	0.0068	0.0066	0.0002	0.0001	0	0	0.0266	0.0024	0.0011	0.0016	0.0072	0.0027	0.0027	0.0018	0.0037	0.0058	0.0025	0.0024	0.0041	0.0036	9.621e-05	0	0.0001	0	0	0.0268	0	0.0014	0.0014	0.0058	0.04	0.42199	D	.	.	.	0.999	0.77913	D	0.979	0.74454	D	.	.	.	.	0.999998	0.58761	D	1.685	0.43254	L	-0.31	0.68030	T	-2.02	0.48184	N	0.345	0.68429	-0.3252	0.74275	T	0.312	0.68192	T	9	0.00589779	0.00132	T	.	.	.	0.312	0.63375	.	.	0.384086055536	0.38021	.	.	0.442136844735	0.44188	0.601511120796	0.53117	T	.	.	.	-0.326447	0.06384	T	-0.23769	0.51023	T	0.0364751789503253	0.03063	T	0.945505	0.81406	D	.	.	.	.	.	.	.	.	-5.449	0.41388	T	.	.	0.757	0.75352	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.830134	0.37305	20.5	0.95094131028470685	0.26161	0.97403	0.74527	D	AEFBCI	.	.	.	0.734428824412604	0.81890	7.629033	0.770561855878795	0.87685	9.307701	1.0	0.98316	0.554377	0.28877	0	0.636889	0.57051	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	5.74	5.74	0.90070	7.882000	0.85748	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.503	0.95094	369	0.84396	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2945.98	114	chr2	178533468	.	C	G	2945.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.056;DP=2141;ExcessHet=0.0000;FS=0.545;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.84;ReadPosRankSum=0.296;SOR=0.727	GT:AD:DP:GQ:PL	0/0:102,0:102:99:0,120,1800	20	0	1	0
chr2	178534020	178534020	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon186:c.A75400G:p.I25134V	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	1	1496	25	0	0	25	0.00828638	.	.	56816	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Primary_dilated_cardiomyopathy|not_specified|Cardiovascular_phenotype|Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.437	B	0.235	B	.	.	1.000	D	0.05	N	-0.06	T	-0.792	T	0.135	T	0.301	1.222	9.957	5.59	2.130	5.029	11.421	0.126	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0	0	0.0017	0.0011	0.0233	0.0036481	564	154602	rs56347248	0.0022	0.0022	0.0016	0.0028	0.0211	0.0021	0.0021	0.0203	0.0200	0.0003	0.0007	0.0008	5.038e-05	7.493e-05	0.0043	0.0010	0.0027	0.0211	0.0017	0.0018	0.0015	0.0020	0.0238	0.0016	0.0015	0.0203	0.0190	0.0002	0	0.0016	0.0009	0	0	0	0.0016	0.0014	0.0238	0.52	0.07259	T	.	.	.	0.437	0.35811	B	0.235	0.38432	B	.	.	.	.	0.976515	0.39283	D	-0.115	0.04602	N	-0.06	0.63568	T	-0.59	0.17834	N	0.044	0.20793	-0.7920	0.55612	T	0.135	0.44933	T	9	0.003139168	0.00052	T	.	.	.	0.126	0.34673	.	.	0.494906320408	0.49125	.	.	0.126400502665	0.14248	0.424147129059	0.28407	T	.	.	.	-0.430651	0.01469	T	-0.374457	0.36368	T	0.0279211896563883	0.01677	T	0.818018	0.47860	T	.	.	.	.	.	.	.	.	-3.49	0.16292	T	.	.	0.131	0.28174	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.161078	0.27534	17.49	0.8587454016514926	0.16167	0.93700	0.58941	D	AEFBI	.	.	.	0.0801936018471561	0.45539	2.808774	0.257360012518291	0.53068	3.477797	0.999984022272872	0.51787	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.59	5.59	0.84677	5.019000	0.63828	.	.	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1352:0.0:0.0:0.8648	11.421	0.49223	369	0.84396	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2798.98	114	chr2	178534020	.	T	C	2798.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.398e+00;DP=2215;ExcessHet=0.0000;FS=0.932;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.37;ReadPosRankSum=-1.485e+00;SOR=0.676	GT:AD:DP:GQ:PL	0/0:102,0:102:99:0,120,1800	20	0	1	0
chr2	178534724	178534724	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon186:c.G74696A:p.R24899H	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	1	1494	27	0	0	27	0.00895522	.	.	56807	not_provided|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiovascular_phenotype|Tibial_muscular_dystrophy|Cardiomyopathy|Primary_dilated_cardiomyopathy	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.105	B	0.019	B	.	.	1.000	D	1.815	L	0.72	T	-0.916	T	0.142	T	0.399	3.231	16.83	5.14	1.558	4.984	15.569	0.089	.	0.0014	0.00599042	0.0044	0.0002	0.0011	0	0	0.0018	0.0022	0.0238	0.0037516	580	154602	rs55669553	0.0022	0.0022	0.0016	0.0029	0.0214	0.0022	0.0022	0.0206	0.0203	0.0004	0.0007	0.0008	7.558e-05	7.493e-05	0.0049	0.0010	0.0027	0.0214	0.0018	0.0018	0.0015	0.0021	0.0244	0.0016	0.0015	0.0209	0.0195	0.0002	0	0.0017	0.0009	0	0	0	0.0017	0.0014	0.0244	0.0	0.91255	D	.	.	.	0.105	0.25993	B	0.019	0.18783	B	.	.	.	.	0.999996	0.58761	D	2.965	0.85198	M	0.72	0.50976	T	-3.49	0.69714	D	0.24	0.37509	-0.9165	0.46024	T	0.142	0.46257	T	9	0.0036860704	0.00068	T	.	.	.	0.089	0.25827	.	.	0.202086224978	0.19791	.	.	0.109101829379	0.12303	0.489401757717	0.37355	T	.	.	.	-0.369326	0.03628	T	-0.286368	0.46149	T	0.110552963806189	0.13480	T	0.870213	0.57716	D	.	.	.	.	.	.	.	.	-5.952	0.45876	T	.	.	0.507	0.64884	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.452042	0.31577	18.78	0.92742931441369314	0.22247	0.97406	0.74547	D	AEFBI	.	.	.	0.114307564429706	0.47130	2.943047	0.267253383658903	0.53636	3.531681	0.999999999763111	0.74766	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	6.02	5.14	0.70008	5.062000	0.64156	.	.	-0.173000	0.11020	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9341:0.0:0.0659	15.569	0.76062	373	0.84140	.;.;Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2335.98	114	chr2	178534724	.	C	T	2335.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.88;DP=2048;ExcessHet=0.0000;FS=0.580;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.24;ReadPosRankSum=-4.140e-01;SOR=0.794	GT:AD:DP:GQ:PL	0/0:102,0:102:99:0,120,1800	20	0	1	0
chr2	178545939	178545939	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon171:c.C68102T:p.S22701F	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	YES	0	1496	26	0	0	26	0.00861498	.	.	56719	Tibial_muscular_dystrophy|Primary_dilated_cardiomyopathy|Early-onset_myopathy_with_fatal_cardiomyopathy|Dilated_cardiomyopathy_1G|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiovascular_phenotype|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Cardiomyopathy|not_provided	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	D	2.49	M	0.2	T	-0.126	T	0.442	T	0.545	3.668	18.64	5.82	2.756	7.923	20.109	0.466	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0.0002	0	0.0017	0.0011	0.0233	0.003661	566	154602	rs191484894	0.0022	0.0022	0.0016	0.0028	0.0210	0.0021	0.0021	0.0202	0.0199	0.0004	0.0007	0.0008	0.0002	7.49e-05	0.0043	0.0010	0.0030	0.0210	0.0018	0.0018	0.0015	0.0021	0.0238	0.0016	0.0015	0.0203	0.0190	0.0002	0	0.0018	0.0009	0	0	0	0.0017	0.0019	0.0238	0.004	0.65419	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999999	0.58761	D	1.585	0.39878	L	0.2	0.60111	T	-4.0	0.80767	D	0.606	0.84817	-0.1261	0.79492	T	0.442	0.77965	T	9	0.011009574	0.00242	T	.	.	.	0.466	0.76156	.	.	0.724109648524	0.72167	.	.	0.484728417222	0.47373	0.585230708122	0.50822	T	.	.	.	-0.30576	0.08128	T	-0.19506	0.55114	T	0.0716982437541968	0.08888	T	0.914409	0.69449	D	.	.	.	.	.	.	.	.	-8.326	0.63271	D	.	.	0.346	0.56324	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.304615	0.45380	22.1	0.97250835364099031	0.33043	0.98589	0.84429	D	AEFBI	0.886007	0.81703	D	0.843193967595034	0.88718	9.684574	0.802168168336609	0.89944	10.18802	0.99999999999998	0.74766	0.475973	0.10046	0	0.379588	0.06130	0	0.670488	0.60580	0	0.491896	0.07777	0	.	.	5.82	5.82	0.92740	8.055000	0.89243	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.828000	0.39026	0.0:0.0:1.0:0.0	20.109	0.97902	476	0.77720	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2149.98	35	chr2	178545939	.	G	A	2149.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=931;ExcessHet=0.0000;FS=1.072;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.86;ReadPosRankSum=0.043;SOR=0.777	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1376	20	0	1	0
chr2	178546425	178546425	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon170:c.G67711A:p.D22571N	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	513249	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.993	D	0.911	D	.	.	1.000	D	1.135	L	-0.18	T	-0.396	T	0.340	T	0.12	4.889	28.1	5.81	2.738	7.818	20.080	0.363	0.0257388030203	.	.	0.0002	0	0	0	0	0	0	0.0015	0.0001552	24	154602	rs776793953	8.074e-05	8.072e-05	4.085e-05	0.0001	0.0013	6.869e-05	6.422e-05	0.0011	0.0010	0	0	0	0	0	0.0002	8.995e-07	8.283e-05	0.0013	1.97e-05	1.969e-05	1.285e-05	2.687e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	0	0	0.0006	0.057	0.37966	T	.	.	.	0.993	0.65571	D	0.911	0.64720	D	.	.	.	.	1	0.81001	D	1.08	0.27187	L	-0.18	0.65747	T	-3.32	0.69593	D	0.289	0.53181	-0.3963	0.72144	T	0.340	0.70624	T	9	0.07559073	0.11701	T	0.025739	0.48694	D	0.363	0.68319	0.476	0.55342	0.371344866733	0.36741	.	.	0.397505575449	0.40843	0.765936374664	0.76815	T	.	.	.	-0.403193	0.02206	T	-0.392469	0.34263	T	0.190041470599687	0.19847	T	0.914509	0.69499	D	.	.	.	.	.	.	.	.	-4.888	0.35600	T	.	.	0.273	0.50690	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.350464	0.46210	22.3	0.98117374264781754	0.38407	0.98696	0.85696	D	AEFBI	0.919675	0.89054	D	0.741570041224039	0.82354	7.742073	0.783419805281473	0.88617	9.650064	0.999999999999978	0.74766	0.475973	0.10046	0	0.546412	0.12157	0	0.670488	0.60580	0	0.528226	0.09195	0	.	.	5.81	5.81	0.92413	7.905000	0.86479	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.080	0.97771	483	0.77230	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2424.98	35	chr2	178546425	.	C	T	2424.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.59;DP=1027;ExcessHet=0.0000;FS=0.544;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=3.28;SOR=0.761	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1376	20	0	1	0
chr2	178550073	178550073	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon165:c.G64570A:p.A21524T	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	1	1495	26	0	0	26	0.00862069	.	.	56678	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided|Cardiomyopathy|not_specified|Cardiovascular_phenotype|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Primary_dilated_cardiomyopathy	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	D	1.495	L	-0.5	T	-0.069	T	0.488	T	0.42	4.903	28.2	5.74	2.873	4.869	20.298	0.416	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0.0002	0	0.0017	0.0011	0.0233	0.0036675	567	154602	rs148617456	0.0022	0.0022	0.0016	0.0028	0.0210	0.0021	0.0021	0.0202	0.0199	0.0004	0.0007	0.0008	0.0002	7.491e-05	0.0043	0.0010	0.0030	0.0210	0.0018	0.0018	0.0015	0.0021	0.0241	0.0016	0.0015	0.0205	0.0192	0.0002	0	0.0018	0.0009	0	0	0	0.0016	0.0019	0.0241	0.041	0.41915	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	1.15	0.29295	L	-0.5	0.70480	T	-2.78	0.66085	D	0.487	0.67650	-0.0690	0.80802	T	0.488	0.80515	T	9	0.0062122345	0.00140	T	.	.	.	0.416	0.72631	.	.	0.52628473709	0.52276	.	.	0.457598942377	0.45392	0.550748407841	0.45962	T	.	.	.	-0.333518	0.05850	T	-0.234932	0.51292	T	0.046113912415414	0.04804	T	0.887511	0.61533	D	.	.	.	.	.	.	.	.	-5.9	0.45435	T	.	.	0.140	0.30713	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.063934	0.41155	21.3	0.98470008578502022	0.41849	0.97160	0.73043	D	AEFBI	0.707248	0.66204	D	0.716954307711086	0.80744	7.362555	0.730721168650621	0.84709	8.368916	1.0	0.98316	0.554377	0.28877	0	0.624146	0.53433	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.74	5.74	0.90070	4.921000	0.63096	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	20.298	0.98571	531	0.73574	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2272.98	42	chr2	178550073	.	C	T	2272.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.614e+00;DP=1179;ExcessHet=0.0000;FS=4.043;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-9.070e-01;SOR=0.564	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1376	20	0	1	0
chr2	178550195	178550195	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon165:c.C64448T:p.A21483V	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	1	1520	1	0	0	1	0.000328839	.	.	173081	not_specified|TTN-related_disorder|Cardiovascular_phenotype|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Cardiomyopathy|not_provided	MedGen:CN169374|.|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.996	D	0.883	P	.	.	1.000	D	-1	N	1.1	T	-0.650	T	0.095	T	0.537	4.805	27.2	5.74	2.873	2.894	20.298	0.264	0.0446654861033	.	0.00179712	0.0010	0	0.0002	0	0	0	0	0.0068	0.0008215	127	154602	rs553668520	0.0004	0.0004	0.0002	0.0006	0.0064	0.0004	0.0004	0.0060	0.0058	2.988e-05	4.472e-05	0	2.52e-05	0	0.0002	4.498e-06	0.0007	0.0064	0.0003	0.0003	0.0002	0.0004	0.0089	0.0002	0.0002	0.0068	0.0061	0	0	0	0	0	0	0	0	0	0.0089	0.424	0.09717	T	.	.	.	0.996	0.68779	D	0.883	0.62698	P	.	.	.	.	0.999991	0.58761	D	0	0.06538	N	1.1	0.39050	T	-1.97	0.45587	N	0.289	0.40963	-0.6497	0.62727	T	0.095	0.35818	T	9	0.008009225	0.00182	T	0.044665	0.61602	D	0.264	0.57741	0.685	0.82271	0.231873229951	0.22792	.	.	0.363313273458	0.37963	0.452166140079	0.32240	T	.	.	.	-0.418	0.01762	T	-0.369479	0.36950	T	0.0877061489228231	0.10943	T	0.837516	0.53799	T	.	.	.	.	.	.	.	.	-4.113	0.25481	T	.	.	0.181	0.39408	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.835599	0.37399	20.5	0.98577189540391419	0.43193	0.96600	0.69954	D	AEFBI	0.610289	0.59917	D	0.334316865360715	0.57917	3.961182	0.456813304475557	0.65158	4.788312	1.0	0.98316	0.554377	0.28877	0	0.624146	0.53433	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.74	5.74	0.90070	2.807000	0.47652	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	20.298	0.98571	531	0.73574	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1535.98	42	chr2	178550195	.	G	A	1535.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.200e-01;DP=1087;ExcessHet=0.0000;FS=3.061;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.05;ReadPosRankSum=-9.260e-01;SOR=0.972	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1376	20	0	1	0
chr2	178550237	178550237	T	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon165:c.A64406T:p.D21469V	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	56676	not_specified|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tibial_muscular_dystrophy|Cardiovascular_phenotype|TTN-related_disorder|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided|Cardiomyopathy	MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN230736|.|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.991	D	0.864	P	.	.	1.000	D	2.765	M	-0.15	T	0.199	D	0.537	D	0.614	1.998	12.64	5.74	2.317	7.052	16.343	0.471	0.119355227916	0.0008	0.000399361	0.0009	0	0.0002	0	0.0029	0.0013	0	0.0003	0.0008926	138	154602	rs182549226	0.0010	0.0010	0.0010	0.0009	0.0010	0.0009	0.0009	0.0010	0.0010	8.973e-05	0.0002	0	0	0.0036	0.0002	0.0010	0.0004	0.0004	0.0006	0.0006	0.0006	0.0007	0.0010	0.0005	0.0005	0.0008	0.0007	0.0002	0	6.546e-05	0	0	0.0018	0	0.0010	0.0005	0.0006	0.029	0.48186	D	.	.	.	0.991	0.64070	D	0.864	0.61462	P	.	.	.	.	1	0.81001	D	2.325	0.66631	M	-0.54	0.70950	T	-5.21	0.84457	D	0.452	0.59648	0.199	0.85893	D	0.537	0.82868	D	9	0.034935325	0.01720	T	0.119355	0.79963	D	0.471	0.76487	.	.	0.743760114796	0.74146	.	.	0.47277561626	0.46512	0.427034467459	0.28804	T	.	.	.	-0.252765	0.13762	T	-0.154871	0.58810	T	0.11055860818733	0.13481	T	0.927007	0.73102	D	.	.	.	.	.	.	.	.	-8.252	0.62774	D	.	.	0.329	0.55152	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.264027	0.28933	17.96	0.63969966799423339	0.07366	0.99652	0.98359	D	AEFBI	0.907506	0.86161	D	0.674643851832488	0.77971	6.778615	0.605310029458203	0.75324	6.290557	0.999999999659005	0.74766	0.554377	0.28877	0	0.624146	0.53433	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.74	5.74	0.90070	3.429000	0.52567	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.738000	0.35369	0.0:0.0:0.0:1.0	16.343	0.82925	535	0.73288	.;.;Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	1908.98	42	chr2	178550237	.	T	A	1908.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.170e-01;DP=984;ExcessHet=0.0000;FS=1.296;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=1.29;SOR=0.830	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1376	20	0	1	0
chr2	178552074	178552074	A	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon163:c.T63631G:p.C21211G	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	YES	1	1495	24	2	0	28	0.00927767	.	.	56665	Primary_dilated_cardiomyopathy|Cardiomyopathy|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy|Dilated_cardiomyopathy_1G|Cardiovascular_phenotype|TTN-related_myopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736|MONDO:MONDO:0100175,MedGen:CN294812|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	.	.	1.000	D	0.86	L	0.46	T	-0.580	T	0.248	T	0.664	3.210	16.75	5.76	2.195	9.339	16.075	0.478	.	0.0014	0.00599042	0.0041	0.0002	0.0011	0	0	0.0017	0.0011	0.0226	0.0035705	552	154602	rs150430592	0.0021	0.0021	0.0016	0.0027	0.0203	0.0021	0.0021	0.0195	0.0192	0.0003	0.0007	0.0008	5.04e-05	7.493e-05	0.0042	0.0010	0.0027	0.0203	0.0017	0.0017	0.0015	0.0020	0.0234	0.0016	0.0015	0.0199	0.0186	0.0002	0	0.0017	0.0009	0	0	0	0.0017	0.0014	0.0234	0.023	0.49613	D	.	.	.	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	1	0.81001	D	0.315	0.10303	N	0.46	0.56281	T	-7.8	0.95924	D	0.536	0.89020	-0.5797	0.65629	T	0.248	0.61693	T	9	0.008630365	0.00196	T	.	.	.	0.478	0.76946	.	.	0.805810659861	0.80399	.	.	0.515532960109	0.49461	0.735550642014	0.72319	T	.	.	.	-0.259447	0.12965	T	-0.129197	0.61040	T	0.153546478578844	0.17382	T	0.89721	0.67223	D	.	.	.	.	.	.	.	.	-1.482	0.01728	T	.	.	0.482	0.63750	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.871585	0.37970	20.6	0.94809500877476183	0.25568	0.99059	0.90625	D	AEFBI	0.964256	0.98634	D	0.719182480464528	0.80888	7.395654	0.757896083038793	0.86746	8.988923	0.999999995369245	0.74766	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.76	5.76	0.90726	9.325000	0.96006	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	16.075	0.80770	538	0.73119	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2842.98	45	chr2	178552074	.	A	C	2842.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.350e-01;DP=989;ExcessHet=0.0000;FS=6.810;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=0.304;SOR=0.709	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1231	20	0	1	0
chr2	178552364	178552364	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon163:c.G63341A:p.R21114H	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	0	1496	26	0	0	26	0.00861498	.	.	56661	Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiomyopathy|not_provided|Tibial_muscular_dystrophy|not_specified|Dilated_cardiomyopathy_1G|Cardiovascular_phenotype|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy|Primary_dilated_cardiomyopathy	MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	D	1.38	L	-0.33	T	-0.204	T	0.431	T	0.366	3.370	17.36	5.76	2.882	6.086	20.324	0.403	.	0.0015	0.0061901	0.0041	0.0002	0.0011	0.0004	0	0.0018	0.0012	0.0265	0.0036481	564	154602	rs149567378	0.0022	0.0023	0.0016	0.0028	0.0210	0.0021	0.0021	0.0202	0.0199	0.0004	0.0008	0.0008	0.0002	5.702e-05	0.0044	0.0011	0.0030	0.0210	0.0019	0.0019	0.0016	0.0021	0.0243	0.0017	0.0016	0.0207	0.0194	0.0002	0	0.0018	0.0009	0.0002	0	0	0.0017	0.0019	0.0243	0.011	0.55530	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	1.565	0.39561	L	-0.33	0.68329	T	-3.4	0.71397	D	0.405	0.67995	-0.2039	0.77569	T	0.431	0.77284	T	9	0.006216377	0.00140	T	.	.	.	0.403	0.71636	.	.	0.366277470483	0.36239	.	.	0.515550123524	0.49465	0.626902043819	0.56706	T	.	.	.	-0.330574	0.06068	T	-0.230704	0.51704	T	0.0440367366895231	0.04426	T	0.949405	0.82942	D	.	.	.	.	.	.	.	.	-3.913	0.22497	T	.	.	0.107	0.20038	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.866965	0.37901	20.6	0.92786797022447076	0.22304	0.97433	0.74719	D	AEFBI	0.830258	0.74901	D	0.710948418442647	0.80351	7.274923	0.713889188448926	0.83433	8.02034	0.999999999999992	0.74766	0.554377	0.28877	0	0.446627	0.06534	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.76	5.76	0.90726	6.170000	0.71810	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:1.0:0.0:0.0	20.324	0.98691	535	0.73288	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2264.98	45	chr2	178552364	.	C	T	2264.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.07;DP=918;ExcessHet=0.0000;FS=2.579;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.58;ReadPosRankSum=-3.330e-01;SOR=0.897	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1231	20	0	1	0
chr2	178563572	178563572	G	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon154:c.C55365A:p.N18455K	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	0	1497	25	0	0	25	0.00828089	.	.	56579	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified|Dilated_cardiomyopathy_1G|Cardiovascular_phenotype|Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|Cardiomyopathy|Primary_dilated_cardiomyopathy	MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	.	.	1.000	D	2.735	M	0.35	T	-0.467	T	0.323	T	0.194	1.156	9.708	2.79	0.863	3.273	7.167	0.417	.	0.0014	0.00579073	0.0042	0.0002	0.0011	0	0	0.0017	0.0011	0.0225	0.003564	551	154602	rs56264840	0.0022	0.0022	0.0016	0.0027	0.0202	0.0021	0.0021	0.0194	0.0191	0.0003	0.0007	0.0008	5.04e-05	7.49e-05	0.0043	0.0010	0.0027	0.0202	0.0017	0.0017	0.0015	0.0020	0.0232	0.0016	0.0015	0.0197	0.0184	0.0002	0	0.0017	0.0009	0	0	0	0.0017	0.0014	0.0232	0.003	0.68238	D	.	.	.	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.999825	0.50225	D	2.485	0.72352	M	0.35	0.58029	T	-4.57	0.79659	D	0.379	0.60495	-0.4672	0.69823	T	0.323	0.69212	T	9	0.0070592165	0.00160	T	.	.	.	0.417	0.72705	0.578	0.70347	0.250039746154	0.24611	.	.	0.496214373149	0.48140	0.663874268532	0.61963	T	.	.	.	-0.435452	0.01376	T	-0.382017	0.35485	T	0.133976625754777	0.15744	T	0.934307	0.75413	D	.	.	.	.	.	.	.	.	-10.339	0.75916	D	.	.	0.865	0.80585	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.816132	0.23080	15.88	0.9232112540969486	0.21715	0.94092	0.60088	D	AEFBI	0.724372	0.67370	D	0.448065803602407	0.64093	4.656293	0.379467926255422	0.60300	4.216094	0.00891551601152706	0.11764	0.553676	0.25195	0	0.546412	0.12157	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.97	2.79	0.31792	3.299000	0.51533	.	.	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.4327:0.0:0.5673:0.0	7.167	0.24872	443	0.79878	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2356.98	103	chr2	178563572	.	G	T	2356.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.676;DP=1852;ExcessHet=0.0000;FS=1.820;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=-9.460e-01;SOR=0.843	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1180	20	0	1	0
chr2	178566813	178566813	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon154:c.G52124A:p.R17375H	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	1	1519	2	0	0	2	0.000657895	.	.	56540	Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiomyopathy|Dilated_cardiomyopathy_1G|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|TTN-related_disorder|Tibial_muscular_dystrophy|not_provided|Cardiovascular_phenotype	MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|.|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.096	B	0.039	B	.	.	1.000	D	1.51	L	0.24	T	-0.943	T	0.089	T	0.369	2.111	13.02	3.95	0.758	4.036	12.046	0.102	.	0.0056	0.00459265	0.0016	0.0153	0.0014	0	0	0.0002	0.0033	0.0005	0.0014359	222	154602	rs56044609	0.0006	0.0006	0.0007	0.0006	0.0169	0.0006	0.0006	0.0157	0.0153	0.0169	0.0019	0	5.045e-05	5.645e-05	0.0023	8.546e-05	0.0018	0.0006	0.0051	0.0051	0.0048	0.0053	0.0167	0.0048	0.0047	0.0157	0.0153	0.0167	0	0.0027	0	0	0	0.0102	0.0002	0.0057	0.0010	0.052	0.39097	T	.	.	.	0.096	0.25489	B	0.039	0.23607	B	.	.	.	.	0.993833	0.42069	D	1.655	0.42436	L	0.24	0.59583	T	-3.31	0.70067	D	0.447	0.48504	-0.9432	0.42105	T	0.089	0.34325	T	9	0.005654186	0.00125	T	.	.	.	0.102	0.29158	.	.	0.144782658237	0.14088	.	.	0.114507717248	0.12909	0.644571661949	0.59214	T	.	.	.	-0.387543	0.02789	T	-0.315175	0.43101	T	0.0187430561526537	0.00586	T	0.893011	0.64352	D	.	.	.	.	.	.	.	.	-6.06	0.46778	T	.	.	0.118	0.24226	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.638129	0.34320	19.59	0.88115597392102629	0.17728	0.94354	0.60898	D	AEFDBI	0.731962	0.67887	D	-0.0564260782466127	0.39316	2.316496	0.0837814190479788	0.43733	2.66902	0.985947047903646	0.30976	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.75	3.95	0.44952	2.663000	0.46440	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8132:0.121:0.0659	12.046	0.52775	437	0.80299	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2797.98	103	chr2	178566813	.	C	T	2797.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=1999;ExcessHet=0.0000;FS=0.507;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.58;ReadPosRankSum=-9.110e-01;SOR=0.650	GT:AD:DP:GQ:PL	0/1:100,106:206:99:2812,0,2439	20	0	1	0
chr2	178567083	178567083	T	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon154:c.A51854T:p.K17285I	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.955	D	.	.	1.000	D	2.965	M	0.53	T	-0.235	T	0.366	T	0.556	1.926	12.40	4.43	0.913	7.991	11.777	0.464	0.0686806455121	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.68238	D	.	.	.	0.994	0.66517	D	0.936	0.67150	D	.	.	.	.	0.99997	0.53665	D	3.065	0.87014	M	0.53	0.55090	T	-5.82	0.90530	D	0.543	0.74098	-0.2350	0.76756	T	0.366	0.72613	T	9	0.40579528	0.55883	T	0.068681	0.70519	D	0.464	0.76023	0.598	0.72862	0.464183351471	0.46044	.	.	0.587153137814	0.54305	0.686501502991	0.65203	T	.	.	.	0.0356129	0.56467	T	-0.186621	0.55905	T	0.62489163137571	0.37407	D	0.984502	0.94671	D	.	.	.	.	.	.	.	.	-16.018	0.97788	D	.	.	0.962	0.88323	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.139695	0.42460	21.5	0.87219796933158833	0.17072	0.97947	0.78343	D	AEFBI	0.951214	0.96556	D	0.727929369873573	0.81463	7.528079	0.663962439113116	0.79653	7.128372	0.988917024626491	0.31667	0.487112	0.14033	0	0.54472	0.11627	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.62	4.43	0.52967	7.969000	0.87564	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0698:0.0:0.9302	11.777	0.51259	438	0.80235	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2070.98	103	chr2	178567083	.	T	A	2070.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.581e+00;DP=1892;ExcessHet=0.0000;FS=1.940;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=0.254;SOR=0.882	GT:AD:DP:GQ:PL	0/0:95,0:95:99:0,120,1800	20	0	1	0
chr2	178567528	178567528	T	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon154:c.A51409C:p.T17137P	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.979	D	0.691	P	.	.	1.000	D	1.255	L	1.05	T	-0.765	T	0.128	T	0.525	1.244	10.05	4.46	0.920	2.240	9.761	0.233	0.0277203117503	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1364192252	2.056e-06	2.052e-06	2.726e-06	1.378e-06	0.0002	5.5e-07	1.5e-07	.	.	2.995e-05	0	0	0	0	0.0002	0	0	1.167e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	.	.	.	0.979	0.59044	D	0.691	0.53831	P	.	.	.	.	0.725602	0.33663	D	1.67	0.42885	L	1.05	0.39990	T	-3.6	0.69357	D	0.329	0.57946	-0.7646	0.57154	T	0.128	0.43503	T	9	0.22477317	0.39290	T	0.02772	0.50496	D	0.233	0.53499	0.46	0.52753	0.266843984389	0.26308	.	.	0.361612119172	0.37821	0.536002159119	0.43881	T	.	.	.	-0.148485	0.28549	T	-0.350435	0.39156	T	0.327650328597053	0.26130	T	0.90181	0.65830	D	.	.	.	.	.	.	.	.	-8.593	0.65043	D	.	.	0.394	0.59262	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.795039	0.36749	20.3	0.86013311777473667	0.16256	0.94335	0.60838	D	AEFBI	0.862397	0.78067	D	0.304277578341607	0.56369	3.801386	0.321787341604385	0.56824	3.846226	0.65728080602964	0.22231	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.65	4.46	0.53567	2.231000	0.42654	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.141:0.0:0.859	9.761	0.39702	436	0.80373	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	3334.98	103	chr2	178567528	.	T	G	3334.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.682;DP=2207;ExcessHet=0.0000;FS=2.230;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.31;ReadPosRankSum=-5.070e-01;SOR=0.537	GT:AD:DP:GQ:PL	0/0:95,0:95:99:0,120,1800	20	0	1	0
chr2	178574997	178574997	A	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon154:c.T43940C:p.V14647A	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.625	P	0.266	B	.	.	1.000	D	0.68	N	-0.21	T	-0.776	T	0.183	T	0.222	1.748	11.80	4.52	0.956	9.281	12.312	0.236	0.0339149520932	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1275870840	1.369e-06	1.368e-06	2.724e-06	0	0.0003	2.3e-07	9e-08	6.101e-05	2.525e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.17239	T	.	.	.	0.309	0.32767	B	0.197	0.36707	B	.	.	.	.	0.999737	0.49283	D	0.21	0.09513	N	-0.21	0.66294	T	-2.33	0.52776	N	0.309	0.56489	-0.7760	0.56526	T	0.183	0.53148	T	9	0.22134233	0.38857	T	0.033915	0.55318	D	0.236	0.53931	0.511	0.60846	0.475895305069	0.47218	.	.	0.179783107813	0.20224	0.612806558609	0.54713	T	.	.	.	-0.0818191	0.39419	T	-0.355304	0.38595	T	0.303655345588094	0.25154	T	0.69713	0.30670	T	.	.	.	.	.	.	.	.	-1.79	0.02479	T	.	.	0.126	0.26825	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.503706	0.32326	19.01	0.87681358583758373	0.17404	0.94283	0.60675	D	AEFBHCIJ	.	.	.	0.207820504303587	0.51576	3.338	0.33177987268098	0.57415	3.907255	0.999575145248909	0.40495	0.553676	0.25195	0	0.546412	0.12157	0	0.670488	0.60580	0	0.620846	0.47308	0	.	.	5.69	4.52	0.54797	9.268000	0.94851	.	.	0.756000	0.94297	1.000000	0.71638	0.720000	0.26347	0.987000	0.62547	0.8733:0.0:0.0:0.1267	12.312	0.54255	436	0.80373	.;.;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2319.98	112	chr2	178574997	.	A	G	2319.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.38;DP=1828;ExcessHet=0.0000;FS=0.608;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.47;ReadPosRankSum=0.218;SOR=0.613	GT:AD:DP:GQ:PL	0/0:95,0:95:99:0,120,1800	20	0	1	0
chr2	178576568	178576568	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon153:c.A42481G:p.S14161G	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	0	1468	51	3	0	57	0.0190444	.	.	56440	not_specified|Cardiomyopathy|Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|Hypertrophic_cardiomyopathy|Familial_dilated_cardiomyopathy_and_peripheral_neuropathy|Ventricular_tachycardia|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|TTN-related_disorder|Cardiovascular_phenotype|Dilated_cardiomyopathy_1G	MedGen:CN169374|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|.|EFO:EFO_0005306,Human_Phenotype_Ontology:HP:0004756,MONDO:MONDO:0005477,MedGen:C0042514|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|.|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.999	D	0.992	D	.	.	1.000	D	2.955	M	-0.51	T	0.109	D	0.478	T	0.312	1.899	12.31	4.57	1.105	6.240	11.877	0.566	.	0.0066	0.00299521	0.0075	0.0014	0.0047	0	0.0018	0.0095	0.0111	0.0110	0.0073091	1130	154602	rs72646885	0.0072	0.0072	0.0069	0.0075	0.0170	0.0070	0.0070	0.0143	0.0133	0.0015	0.0048	0.0314	0	0.0029	0.0170	0.0068	0.0092	0.0116	0.0057	0.0057	0.0061	0.0054	0.0087	0.0054	0.0053	0.0074	0.0072	0.0013	0	0.0044	0.0331	0	0.0021	0.0306	0.0080	0.0095	0.0087	0.008	0.91255	D	.	.	.	0.999	0.77913	D	0.992	0.80445	D	.	.	.	.	0.999978	0.58761	D	3.555	0.93317	H	-0.51	0.70597	T	-2.99	0.64710	D	0.441	0.67650	0.109	0.84332	D	0.478	0.80037	T	9	0.004576355	0.00095	T	.	.	.	0.566	0.82289	.	.	0.376039117802	0.37211	.	.	0.443632335628	0.44285	0.520653069019	0.41718	T	.	.	.	-0.274401	0.11271	T	-0.156547	0.58661	T	0.0732738689586987	0.09103	T	0.791621	0.43272	T	.	.	.	.	.	.	.	.	-10.119	0.74621	D	.	.	0.368	0.57720	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.495148	0.70253	25.5	0.83750850580813474	0.14899	0.97136	0.72900	D	AEFBI	0.888384	0.82145	D	0.649867181465855	0.76361	6.472145	0.554012187497778	0.71676	5.691424	0.99518412355579	0.33994	0.553676	0.25195	0	0.601575	0.49859	0	0.463624	0.06942	0	0.620846	0.47308	0	.	.	5.72	4.57	0.55860	7.969000	0.87564	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:0.0682:0.0:0.9317	11.877	0.51835	432	0.80690	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.04762	5291.11	223	chr2	178576568	.	T	C	5291.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.934e+00;DP=1543;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.60;ReadPosRankSum=-8.430e-01;SOR=0.687	GT:AD:DP:GQ:PL	0/1:154,122:276:99:2701,0,3885	19	0	2	0
chr2	178583088	178583088	T	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon141:c.A38520C:p.K12840N	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	449663	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.351	B	0.172	B	.	.	1.000	D	1.27	L	-0.24	T	-0.901	T	0.177	T	0.093	2.589	14.62	0.523	0.134	0.716	5.602	0.109	0.0282374492652	.	0.000199681	1.763e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs574615636	5.482e-06	5.472e-06	2.727e-06	8.266e-06	6.973e-05	2.36e-06	1.7e-06	3.001e-05	2.042e-05	0	0	0	0	0	0	1.801e-06	0	6.973e-05	6.572e-06	6.563e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.059	0.48642	T	.	.	.	0.351	0.33667	B	0.172	0.35394	B	.	.	.	.	0.99819	0.44615	D	0.91	0.23283	L	-0.24	0.66834	T	-3.63	0.72594	D	0.285	0.53532	-0.9006	0.47931	T	0.177	0.52162	T	9	0.11117378	0.20808	T	0.028237	0.50944	D	0.109	0.30843	0.602	0.73346	0.158396225186	0.15383	.	.	0.145381915845	0.16431	0.427637815475	0.28886	T	.	.	.	-0.351603	0.04626	T	-0.506162	0.21710	T	0.159365079038302	0.17824	T	0.838916	0.51225	T	.	.	.	.	.	.	.	.	-4.979	0.36611	T	.	.	0.313	0.53974	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.552361	0.19892	14.49	0.93587092000938976	0.23437	0.79817	0.39627	D	AEFBI	0.403755	0.47731	N	-0.319887950044005	0.28393	1.565702	-0.286969550358989	0.28527	1.591286	0.0558727542921381	0.15034	0.554377	0.28877	0	0.601575	0.49859	0	0.602189	0.34648	0	0.836244	0.99985	0	.	.	5.91	0.523	0.16255	0.454000	0.21539	.	.	0.665000	0.62972	0.998000	0.41325	0.991000	0.31484	0.997000	0.79791	0.1178:0.284:0.0:0.5982	5.602	0.16638	420	0.81451	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1947.98	36	chr2	178583088	.	T	G	1947.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.810e-01;DP=958;ExcessHet=0.0000;FS=0.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=0.821;SOR=0.772	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1266	20	0	1	0
chr2	178584852	178584852	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon138:c.G37594A:p.V12532M	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	1	1495	26	0	0	26	0.00862069	.	.	56378	not_specified|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Cardiovascular_phenotype|Cardiomyopathy|Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_provided|Primary_dilated_cardiomyopathy	MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:C3661900|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.999	D	0.989	D	.	.	1.000	D	3.61	H	-0.35	T	0.409	D	0.629	D	0.344	3.777	19.18	6.03	2.861	3.315	20.557	0.518	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0.0002	0	0.0017	0.0011	0.0232	0.003661	566	154602	rs150661999	0.0022	0.0022	0.0016	0.0028	0.0210	0.0022	0.0021	0.0202	0.0199	0.0004	0.0007	0.0008	0.0002	7.492e-05	0.0043	0.0010	0.0030	0.0210	0.0018	0.0018	0.0016	0.0020	0.0240	0.0016	0.0015	0.0205	0.0191	0.0002	0	0.0018	0.0009	0.0002	0	0	0.0016	0.0014	0.0240	0.002	0.72154	D	.	.	.	0.999	0.77913	D	0.989	0.78396	D	.	.	.	.	0.999999	0.81001	D	3.11	0.87757	M	-0.35	0.68616	T	-2.23	0.50666	N	0.456	0.64223	0.409	0.89236	D	0.629	0.86960	D	9	0.008097768	0.00184	T	.	.	.	0.518	0.79461	.	.	0.720176921917	0.71771	.	.	0.455381697114	0.45213	0.577912807465	0.49792	T	.	.	.	-0.32077	0.06834	T	-0.216621	0.53063	T	0.0811897725999269	0.10139	T	0.956104	0.83996	D	.	.	.	.	.	.	.	.	-9.665	0.72712	D	.	.	0.691	0.72593	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.813963	0.37048	20.4	0.97582930358672293	0.34747	0.95696	0.65767	D	AEFGBI	0.645504	0.62137	D	0.926986148134166	0.93019	11.76993	0.866370983973504	0.93936	12.38489	0.999999998610919	0.74766	0.525926	0.21836	0	0.546412	0.12157	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	6.03	6.03	0.97798	3.342000	0.51877	.	.	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.557	0.99307	415	0.81806	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2483.98	35	chr2	178584852	.	C	T	2483.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.280e-01;DP=927;ExcessHet=0.0000;FS=2.436;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=-4.720e-01;SOR=0.870	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr2	178588646	178588646	T	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon132:c.A35884T:p.N11962Y	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	D	3.09	M	0.24	T	0.087	D	0.477	T	0.55	2.293	13.63	6.16	2.367	6.235	16.806	0.495	0.0334271423495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999996	0.58761	D	1.94	0.52218	M	0.24	0.59583	T	-5.63	0.86836	D	0.439	0.71498	0.087	0.83928	D	0.477	0.79961	T	9	0.42805198	0.57306	T	0.033427	0.54974	D	0.495	0.78036	0.538	0.64874	0.672034750773	0.66926	.	.	0.510668824719	0.49169	0.611162543297	0.54481	T	.	.	.	0.0121708	0.53320	T	-0.220294	0.52710	T	0.52273428440094	0.33466	D	0.909909	0.68911	D	.	.	.	.	.	.	.	.	-6.989	0.54420	T	.	.	0.148	0.32589	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.952122	0.39288	20.9	0.92832560905313688	0.22365	0.97825	0.77410	D	AEFBI	0.924869	0.90353	D	0.904421638460741	0.91976	11.16512	0.867169221919392	0.93977	12.41565	0.999999980506054	0.74766	0.554377	0.28877	0	0.601575	0.49859	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.16	6.16	0.99302	5.045000	0.64027	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.806	0.85530	405	0.82444	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1506.98	36	chr2	178588646	.	T	A	1506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.549e+00;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.96;ReadPosRankSum=-7.650e-01;SOR=0.636	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr2	178590625	178590625	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon132:c.G33905A:p.R11302Q	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	0	1516	6	0	0	6	0.00197498	.	.	56333	Tibial_muscular_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided|Dilated_cardiomyopathy_1G|Cardiovascular_phenotype|Cardiomyopathy|TTN-related_disorder|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|.|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.992	D	.	.	1.000	D	1.385	L	1.1	T	-0.752	T	0.230	T	0.295	2.822	15.40	6.11	2.906	5.976	20.734	0.310	0.00984408860624	0.0033	0.00119808	0.0038	0.0011	0.0010	0	0.0024	0.0062	0.0022	0.0004	0.0037839	585	154602	rs141973925	0.0047	0.0047	0.0048	0.0045	0.0057	0.0046	0.0045	0.0056	0.0055	0.0010	0.0015	0.0008	0	0.0019	0.0019	0.0057	0.0039	0.0003	0.0029	0.0029	0.0033	0.0025	0.0052	0.0027	0.0026	0.0048	0.0046	0.0007	0	0.0022	0.0012	0	0.0017	0	0.0052	0.0024	0	0.017	0.51248	D	.	.	.	1.0	0.90584	D	0.992	0.80445	D	.	.	.	.	1	0.81001	D	1.975	0.53506	M	1.1	0.39050	T	-2.87	0.62343	D	0.422	0.60749	-0.7517	0.57846	T	0.230	0.59546	T	9	0.008304775	0.00188	T	0.009844	0.25653	T	0.310	0.63162	.	.	0.194818534648	0.19098	.	.	0.493090115459	0.47924	0.55912822485	0.47145	T	.	.	.	-0.433933	0.01404	T	-0.393341	0.34160	T	0.0145829211537454	0.00299	T	0.949705	0.81072	D	.	.	.	.	.	.	.	.	-3.638	0.20208	T	.	.	0.299	0.52945	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.521304	0.49360	22.8	0.96765127497267622	0.31013	0.97839	0.77515	D	AEFBI	0.921998	0.89632	D	0.775496218975961	0.84553	8.31964	0.805898633932538	0.90199	10.30045	0.999999999997323	0.74766	0.487112	0.14033	0	0.446627	0.06534	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.11	6.11	0.99132	6.058000	0.70754	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.734	0.99718	409	0.82198	.;.;Fibronectin type III;Fibronectin type III;.;Fibronectin type III;Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1168.98	71	chr2	178590625	.	C	T	1168.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.11;DP=1208;ExcessHet=0.0000;FS=0.742;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=1.63;SOR=0.587	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr2	178612802	178612802	C	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon93:c.G22724C:p.S7575T	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	1	1498	23	0	0	23	0.00761842	.	.	56201	Primary_dilated_cardiomyopathy|Cardiomyopathy|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified|not_provided|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Cardiovascular_phenotype|Tibial_muscular_dystrophy	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.997	D	0.98	D	.	.	1.000	D	1.62	L	-0.11	T	-0.155	T	0.443	T	0.243	2.209	13.34	5.71	2.697	7.770	19.85	0.233	.	0.0015	0.00599042	0.0045	0.0002	0.0012	0.0002	0	0.0018	0.0011	0.0240	0.0037192	575	154602	rs55663050	0.0022	0.0022	0.0016	0.0029	0.0211	0.0022	0.0021	0.0203	0.0199	0.0004	0.0007	0.0008	0.0002	7.498e-05	0.0043	0.0011	0.0030	0.0211	0.0018	0.0018	0.0016	0.0021	0.0245	0.0016	0.0016	0.0209	0.0196	0.0002	0	0.0018	0.0009	0	0	0	0.0017	0.0019	0.0245	0.197	0.20607	T	.	.	.	0.997	0.70673	D	0.98	0.74843	D	.	.	.	.	0.999998	0.58761	D	1.295	0.32453	L	-0.35	0.68892	T	-2.19	0.51157	N	0.32	0.53445	-0.1546	0.78803	T	0.443	0.78033	T	9	0.0046233535	0.00096	T	.	.	.	0.233	0.53499	.	.	0.378498632473	0.37457	.	.	0.43613436949	0.43717	0.786140263081	0.79856	T	.	.	.	-0.372229	0.03483	T	-0.290538	0.45718	T	0.048630500485067	0.05257	T	0.822018	0.48145	T	.	.	.	.	.	.	.	.	-2.304	0.04577	T	.	.	0.157	0.34819	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.106696	0.41893	21.4	0.91567465207823096	0.20846	0.98825	0.87349	D	AEFBI	0.947774	0.95869	D	0.782204565675657	0.84981	8.44205	0.790845855814436	0.89147	9.85807	0.999999999973674	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.71	5.71	0.89031	7.858000	0.85341	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	19.85	0.96733	413	0.81939	.;.;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2072.98	59	chr2	178612802	.	C	G	2072.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.32;DP=983;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.45;ReadPosRankSum=0.710;SOR=0.719	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1173	20	0	1	0
chr2	178617362	178617362	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon82:c.G20528A:p.R6843H	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	1	1469	47	3	2	55	0.0177198	.	.	56180	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Hypertrophic_cardiomyopathy|Cardiomyopathy|Ventricular_tachycardia|Dilated_cardiomyopathy_1G|not_provided|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy|Cardiovascular_phenotype|TTN-related_disorder|not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy	MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|EFO:EFO_0005306,Human_Phenotype_Ontology:HP:0004756,MONDO:MONDO:0005477,MedGen:C0042514|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN230736|.|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	D	2.15	M	0.48	T	-0.422	T	0.293	T	0.448	2.908	15.69	5.93	2.808	7.770	20.351	0.368	.	0.0066	0.00299521	0.0113	0.0025	0.0103	0	0.0025	0.0146	0.0181	0.0142	0.0064359	995	154602	rs72677237	0.0065	0.0066	0.0063	0.0068	0.0144	0.0064	0.0064	0.0119	0.0110	0.0016	0.0051	0.0263	0	0.0027	0.0144	0.0062	0.0084	0.0110	0.0054	0.0054	0.0056	0.0051	0.0081	0.0051	0.0049	0.0070	0.0067	0.0014	0	0.0044	0.0274	0	0.0019	0.0306	0.0075	0.0090	0.0081	0.004	0.65419	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	2.44	0.70756	M	0.48	0.55945	T	-3.24	0.67477	D	0.433	0.72388	-0.4221	0.71323	T	0.293	0.66422	T	9	0.008752823	0.00198	T	.	.	.	0.368	0.68757	.	.	0.426551566703	0.42274	.	.	0.515550123524	0.49465	0.441975414753	0.30847	T	.	.	.	-0.309716	0.07773	T	-0.208267	0.53860	T	0.0243475309348374	0.01188	T	0.923708	0.72722	D	.	.	.	.	.	.	.	.	-7.748	0.60380	D	.	.	0.275	0.50889	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.806982	0.54888	23.5	0.95521441007536012	0.27141	0.98638	0.84997	D	AEFBI	0.928340	0.91241	D	0.892802544777714	0.91401	10.866	0.888614442682798	0.95058	13.27328	0.999999999999994	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.93	5.93	0.95888	7.858000	0.85341	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	20.351	0.98814	424	0.81215	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3021.11	131	chr2	178617362	.	C	T	3021.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.937;DP=952;ExcessHet=0.1072;FS=0.431;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=0.435;SOR=0.749	GT:AD:DP:GQ:PL	0/1:79,77:156:99:1796,0,1751	19	0	2	0
chr2	178617806	178617806	G	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon81:c.C20350A:p.P6784T	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	1	1495	26	0	0	26	0.00862069	.	.	56178	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tibial_muscular_dystrophy|not_specified|Primary_dilated_cardiomyopathy|Cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiovascular_phenotype|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN169374|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.255	B	0.071	B	.	.	1.000	N	1.15	L	0.74	T	-0.891	T	0.128	T	0.276	1.504	10.98	5.54	2.779	4.772	19.841	0.152	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0	0	0.0018	0.0011	0.0233	0.0036804	569	154602	rs146181477	0.0022	0.0022	0.0016	0.0028	0.0211	0.0022	0.0021	0.0203	0.0200	0.0003	0.0007	0.0008	5.056e-05	7.493e-05	0.0043	0.0011	0.0027	0.0211	0.0018	0.0018	0.0015	0.0020	0.0243	0.0016	0.0015	0.0207	0.0193	0.0002	0	0.0017	0.0009	0	0	0	0.0017	0.0014	0.0243	0.512	0.07449	T	.	.	.	0.255	0.31319	B	0.071	0.27960	B	.	.	.	.	0.814352	0.30443	N	1.735	0.44892	L	0.74	0.50459	T	-3.86	0.75058	D	0.332	0.41162	-0.8910	0.48846	T	0.128	0.43482	T	9	0.004316628	0.00087	T	.	.	.	0.152	0.39956	.	.	0.227934060464	0.22382	.	.	0.106357007443	0.12022	0.341280579567	0.16630	T	.	.	.	-0.478698	0.00753	T	-0.443473	0.28420	T	0.0223469174444407	0.00947	T	0.905909	0.66829	D	.	.	.	.	.	.	.	.	-5.205	0.38992	T	.	.	0.097	0.15832	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.764698	0.36273	20.2	0.89396471440767089	0.18761	0.95196	0.63793	D	AEFBI	0.624755	0.60821	D	0.183013412871647	0.50385	3.228884	0.349756529587991	0.58493	4.02008	0.999987839813543	0.51787	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.54	5.54	0.82907	3.839000	0.55539	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.841	0.96687	426	0.81110	.;.;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1991.98	33	chr2	178617806	.	G	T	1991.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.955;DP=867;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=-4.670e-01;SOR=0.660	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1122	20	0	1	0
chr2	178618036	178618036	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon81:c.G20120A:p.R6707Q	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	YES	1	1490	30	1	0	32	0.0106242	.	.	56175	not_specified|Tibial_muscular_dystrophy|Atrial_fibrillation|Primary_dilated_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Cardiomyopathy|Cardiovascular_phenotype|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided	MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|EFO:EFO_0000275,Human_Phenotype_Ontology:HP:0001715,Human_Phenotype_Ontology:HP:0005110,Human_Phenotype_Ontology:HP:0005179,MONDO:MONDO:0004981,MedGen:C0004238|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.574	P	0.195	B	.	.	1.000	D	1.045	L	0.44	T	-0.905	T	0.094	T	0.318	1.514	11.01	4.85	1.560	3.740	15.227	0.113	0.032528423721	0.0034	0.00139776	0.0030	0.0008	0.0011	0	0.0005	0.0047	0.0078	0.0012	0.002956	457	154602	rs72677233	0.0028	0.0028	0.0027	0.0028	0.0123	0.0027	0.0027	0.0100	0.0092	0.0010	0.0019	0.0338	2.534e-05	0.0003	0.0123	0.0022	0.0048	0.0018	0.0029	0.0029	0.0030	0.0028	0.0065	0.0027	0.0026	0.0055	0.0051	0.0003	0	0.0065	0.0268	0	0.0003	0.0102	0.0029	0.0090	0.0025	0.041	0.41915	D	.	.	.	0.574	0.38693	P	0.195	0.36592	B	.	.	.	.	0.982686	0.40539	D	1.19	0.30124	L	0.44	0.56609	T	-2.48	0.57435	N	0.357	0.57177	-0.9047	0.47481	T	0.094	0.35658	T	9	0.005768299	0.00129	T	0.032528	0.54329	D	0.113	0.31778	.	.	0.17948927462	0.17512	.	.	0.150698551403	0.16997	0.373202860355	0.21290	T	.	.	.	-0.424277	0.01607	T	-0.385272	0.35105	T	0.0160674029560302	0.00385	T	0.889111	0.62289	D	.	.	.	.	.	.	.	.	-5.769	0.47923	T	.	.	0.171	0.37482	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.551671	0.33031	19.22	0.93038762856172696	0.22643	0.83396	0.42516	D	AEFBI	0.432529	0.49437	N	-0.0607603011833923	0.39122	2.302131	0.0403537369006014	0.41609	2.502593	0.999961319595874	0.48965	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.73	4.85	0.62375	2.993000	0.49114	.	.	-0.202000	0.08738	1.000000	0.71638	1.000000	0.68203	0.704000	0.34264	0.0:0.9323:0.0:0.0677	15.227	0.73050	433	0.80627	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2933.98	33	chr2	178618036	.	C	T	2933.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.11;DP=935;ExcessHet=0.0000;FS=1.606;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=-1.440e-01;SOR=0.812	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1122	20	0	1	0
chr2	178620349	178620349	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon76:c.C18977T:p.T6326I	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	2	1518	2	0	0	2	0.000658328	.	.	881830	Dilated_cardiomyopathy_1G|Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.993	D	0.883	P	.	.	1.000	D	1.845	L	-0.98	T	0.042	D	0.531	D	0.446	2.874	15.57	5.91	2.802	9.807	20.298	0.558	0.0251064072418	.	.	8.723e-06	0	0	0	0	1.532e-05	0	0	6.5e-06	1	154602	rs775807236	6.197e-06	6.156e-06	1.094e-05	1.386e-06	0.0007	2.92e-06	2.11e-06	0.0002	0.0001	0	0	0	0	0	0.0007	2.712e-06	3.338e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	0.52492	T	.	.	.	0.993	0.65571	D	0.883	0.62698	P	.	.	.	.	0.99998	0.54805	D	2.175	0.60977	M	-0.98	0.75789	T	-3.82	0.73684	D	0.401	0.47765	0.042	0.83095	D	0.531	0.82607	D	9	0.42215538	0.56936	T	0.025106	0.48090	D	0.558	0.81831	0.521	0.62368	0.593515057505	0.59029	.	.	0.417649176874	0.42380	0.534613609314	0.43684	T	.	.	.	0.0641183	0.60126	T	-0.145675	0.59624	T	0.270884570255741	0.23785	T	0.880212	0.61002	D	.	.	.	.	.	.	.	.	-1.682	0.02669	T	.	.	0.394	0.59234	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.313778	0.45546	22.1	0.93473634647096504	0.23266	0.99291	0.94038	D	AEFBI	0.933014	0.92424	D	0.878904204322018	0.90689	10.51913	0.898551076590109	0.95508	13.69017	0.999999999999993	0.74766	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.91	5.91	0.95240	9.940000	0.98890	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	20.298	0.98571	424	0.81215	.;.;Immunoglobulin-like domain;Immunoglobulin-like domain;.;Immunoglobulin-like domain;Immunoglobulin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1714.98	35	chr2	178620349	.	G	A	1714.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.041e+00;DP=919;ExcessHet=0.0000;FS=0.608;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=-1.740e-01;SOR=0.638	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1204	20	0	1	0
chr2	178621649	178621649	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon73:c.G17980A:p.A5994T	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	2	1497	23	0	0	23	0.00762347	.	.	56147	Primary_dilated_cardiomyopathy|Tibial_muscular_dystrophy|not_provided|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Cardiovascular_phenotype|Cardiomyopathy|not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	D	2.05	M	-0.24	T	-0.074	T	0.501	D	0.468	3.603	18.34	6.17	2.941	7.770	20.879	0.366	.	0.0015	0.00339457	0.0033	0.0003	0.0011	0	0	0.0018	0.0011	0.0159	0.0027943	432	154602	rs144668626	0.0019	0.0019	0.0014	0.0024	0.0155	0.0018	0.0018	0.0148	0.0145	0.0003	0.0007	0.0009	2.529e-05	7.498e-05	0.0035	0.0011	0.0024	0.0155	0.0016	0.0016	0.0014	0.0018	0.0193	0.0014	0.0014	0.0161	0.0149	0.0001	0	0.0017	0.0009	0	0	0	0.0017	0.0014	0.0193	0.023	0.48186	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	2.215	0.62545	M	-0.24	0.66834	T	-2.79	0.61722	D	0.361	0.68950	-0.0744	0.80678	T	0.501	0.81134	D	9	0.006442368	0.00146	T	.	.	.	0.366	0.68582	.	.	0.430239905395	0.42638	.	.	0.457598942377	0.45392	0.454853713512	0.32607	T	.	.	.	-0.293428	0.09295	T	-0.181941	0.56343	T	0.0415014445753765	0.03963	T	0.947205	0.79675	D	.	.	.	.	.	.	.	.	-6.072	0.47988	T	.	.	0.109	0.20741	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.702705	0.52822	23.3	0.96553543848679368	0.30233	0.98914	0.88555	D	AEFBI	0.936874	0.93382	D	0.897424415611873	0.91632	10.983	0.902844141597971	0.95695	13.87403	0.999999999999998	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.17	6.17	0.99707	7.858000	0.85341	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:1.0:0.0:0.0	20.879	0.99870	421	0.81399	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2731.98	35	chr2	178621649	.	C	T	2731.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.68;DP=1002;ExcessHet=0.0000;FS=5.689;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.83;ReadPosRankSum=0.563;SOR=1.031	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1204	20	0	1	0
chr2	178632203	178632203	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon64:c.C16496G:p.S5499C	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	YES	1	1518	3	0	0	3	0.000987167	.	.	449819	not_specified|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy	MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	D	0.735	N	-0.27	T	-0.276	T	0.384	T	0.501	2.395	13.97	6.03	2.861	9.807	20.557	0.507	0.0120741338723	0.0002	.	6.125e-05	0	0	0	0	0.0001	0	0	3.23e-05	5	154602	rs377015571	1.236e-05	1.3e-05	1.229e-05	1.243e-05	0.0002	7.72e-06	6.37e-06	6.54e-06	5.04e-06	2.994e-05	0	0	0	0	0.0002	1.172e-05	4.987e-05	0	1.973e-05	1.97e-05	3.854e-05	0	4.412e-05	5.24e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.412e-05	0	0	0.009	0.59928	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999999	0.81001	D	1.52	0.38360	L	-0.27	0.67367	T	-3.76	0.72240	D	0.43	0.67908	-0.2763	0.75641	T	0.384	0.73995	T	9	0.2945674	0.47028	T	0.012074	0.30309	T	0.507	0.78786	.	.	0.474876406573	0.47116	.	.	0.458380669649	0.45448	0.546233534813	0.45326	T	.	.	.	-0.081556	0.39462	T	-0.17091	0.57360	T	0.109447616953563	0.13366	T	0.886311	0.61284	D	.	.	.	.	.	.	.	.	-2.659	0.06965	T	.	.	0.285	0.51772	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.340641	0.46033	22.2	0.91785959840255715	0.21090	0.99432	0.95955	D	AEFBI	0.961094	0.98219	D	0.806653778161442	0.86520	8.912091	0.862255028835627	0.93711	12.22712	0.999999999999996	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.03	6.03	0.97798	9.940000	0.98890	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.557	0.99307	432	0.80690	.;.;Immunoglobulin I-set|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1243.98	34	chr2	178632203	.	G	C	1243.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.71;DP=810;ExcessHet=0.0000;FS=0.724;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=0.773;SOR=0.582	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1241	20	0	1	0
chr2	178632614	178632614	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon63:c.G16197A:p.M5399I	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1189755	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.002	B	0.009	B	.	.	1.000	N	0.17	N	-0.96	T	-0.767	T	0.237	T	0.363	1.340	10.40	6.1	2.902	0.583	15.434	0.321	0.0786025242127	8.2e-05	.	2.488e-05	0	8.649e-05	0	0	1.5e-05	0.0011	0	1.94e-05	3	154602	rs370601384	1.985e-05	1.984e-05	1.634e-05	2.339e-05	0.0001	1.392e-05	1.204e-05	4.359e-05	2.767e-05	0	0.0001	0	0	0	0	1.889e-05	4.971e-05	0	7.234e-05	7.224e-05	8.995e-05	5.388e-05	0.0004	3.975e-05	3.13e-05	0.0002	0.0001	4.825e-05	0	0.0004	0	0	0	0	4.413e-05	0	0	0.015	0.52492	D	.	.	.	0.002	0.09854	B	0.009	0.14300	B	.	.	.	.	0.934439	0.26970	N	0.695	0.17993	N	-0.96	0.75553	T	-1.15	0.29525	N	0.252	0.37197	-0.7672	0.57011	T	0.237	0.60379	T	9	0.16608346	0.31024	T	0.078603	0.73042	D	0.321	0.64318	0.591	0.71999	0.529161192476	0.52563	.	.	0.0935167950284	0.10561	0.309034466743	0.11760	T	.	.	.	-0.188226	0.22520	T	-0.282448	0.46553	T	0.040346974338235	0.03752	T	0.884911	0.68911	D	.	.	.	.	.	.	.	.	-3.334	0.14748	T	.	.	0.301	0.53048	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.059548	0.41082	21.3	0.90261452336047343	0.19532	0.84837	0.43929	D	AEFGBI	0.250385	0.37044	N	-0.0940190108197519	0.37654	2.193841	0.14937076465725	0.47107	2.946105	0.999791922941779	0.43153	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	6.1	6.1	0.99108	0.608000	0.23921	.	.	0.599000	0.40250	0.988000	0.36536	1.000000	0.68203	1.000000	0.97212	0.1389:0.8611:0.0:0.0	15.434	0.74858	433	0.80627	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	3233.98	34	chr2	178632614	.	C	T	3233.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.271e+00;DP=942;ExcessHet=0.0000;FS=5.331;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.00;ReadPosRankSum=-5.380e-01;SOR=0.827	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1241	20	0	1	0
chr2	178650756	178650756	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon163:c.C32402G:p.P10801R	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	0	1461	59	2	0	63	0.0211055	.	.	56094	Tibial_muscular_dystrophy|not_provided|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiovascular_phenotype|Cardiomyopathy|Dilated_cardiomyopathy_1G	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.01	B	0.01	B	.	.	0.037	P	0	N	-0.03	T	-1.086	T	0.001	T	0.283	2.225	13.40	3.08	0.572	0.745	11.644	0.104	.	0.0027	0.0393371	0.0306	0.0011	0.0060	0.1733	0.0345	0.0093	0.0292	0.0519	0.0160865	2487	154602	rs72650066	0.0092	0.0093	0.0082	0.0102	0.1324	0.0091	0.0090	0.1294	0.1281	0.0010	0.0021	0.0204	0.1324	0.0248	0.0181	0.0019	0.0140	0.0379	0.0096	0.0096	0.0080	0.0112	0.1243	0.0092	0.0090	0.1164	0.1132	0.0013	0.0044	0.0020	0.0196	0.1243	0.0241	0.0068	0.0029	0.0104	0.0377	0.22	0.30515	T	.	.	.	0.01	0.15535	B	0.01	0.14941	B	.	.	.	.	0.999584	0.38299	P	1.935	0.51832	L	-0.03	0.64630	T	-2.03	0.75297	N	0.088	0.14622	-1.0863	0.06173	T	0.001	0.00287	T	8	0.003309399	0.00057	T	.	.	.	0.104	0.29647	.	.	.	.	.	.	0.0905780317128	0.10218	0.281594097614	0.07715	T	.	.	.	-0.518947	0.00446	T	-0.388388	0.34741	T	0.00381521306306221	0.00040	T	0.206579	0.08622	T	.	.	.	.	.	.	.	.	-8.184	0.64469	D	.	.	0.096	0.28807	B	.;.;.;.;.	.;.;.;.;.	2.490476	0.32130	18.95	0.90375552909682755	0.19638	0.34615	0.25109	N	AEFDBI	0.164300	0.29068	N	-0.915212809601297	0.10486	0.5013117	-0.84299206343616	0.13457	0.6981461	0.232525281216098	0.18481	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.91	3.08	0.34576	2.103000	0.41430	.	.	-0.110000	0.15115	0.095000	0.22689	1.000000	0.68203	0.149000	0.20271	0.0:0.1349:0.7247:0.1404	11.644	0.50508	441	0.80015	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1301.98	34	chr2	178650756	.	G	C	1301.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.461e+00;DP=803;ExcessHet=0.0000;FS=1.482;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=-9.390e-01;SOR=0.856	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1130	20	0	1	0
chr2	178652878	178652878	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_001267550:exon200:c.C38929T:p.P12977S,	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	5	1460	53	4	0	61	0.0204629	.	.	238500	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy|not_provided|Early-onset_myopathy_with_fatal_cardiomyopathy|Dilated_cardiomyopathy_1G	MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0049	0.00638978	0.0065	0.0014	0.0013	0.0001	0.0011	0.0055	0.0057	0.0225	0.0058925	911	154602	rs150223722	0.0064	0.0064	0.0059	0.0069	0.0232	0.0063	0.0062	0.0224	0.0220	0.0010	0.0020	0.0002	5.043e-05	0.0013	0.0106	0.0061	0.0056	0.0232	0.0039	0.0040	0.0040	0.0039	0.0207	0.0037	0.0036	0.0175	0.0162	0.0010	0	0.0024	0.0003	0	0.0017	0.0034	0.0058	0.0047	0.0207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-0.31	0.68030	T	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.00516212	0.00112	T	.	.	.	.	.	.	.	0.838613394838	0.83707	.	.	.	.	.	.	.	.	.	.	-0.52601	0.00406	T	-0.510768	0.21237	T	.	.	.	0.728227	0.34274	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.772844	0.22541	15.66	0.56665513275893198	0.05601	0.18245	0.20180	N	AEFBI	0.157657	0.28320	N	.	.	.	.	.	.	0.0286487783079109	0.13843	0.500041	0.20204	0	0.573888	0.26702	0	0.573888	0.23631	0	0.503917	0.08554	0	.	.	4.83	3.93	0.44666	0.120000	0.15476	.	.	0.654000	0.53741	0.008000	0.17931	0.009000	0.19889	0.150000	0.20306	0.0:0.1335:0.6663:0.2002	9.634	0.38960	441	0.80015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2366.98	40	chr2	178652878	.	G	A	2366.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.750e-01;DP=870;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.09;ReadPosRankSum=0.593;SOR=0.671	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1145	20	0	1	0
chr2	178654225	178654225	-	C	exonic	TTN	.	frameshift insertion	TTN:NM_001267550:exon193:c.38362dupG:p.E12788Gfs*9,	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5614.05	35	chr2	178654225	.	T	TC	5614.05	.	AC=2;AF=0.048;AN=42;DP=888;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=54.83;QD=39.39;SOR=0.839	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1356	20	1	0	0
chr2	178659026	178659026	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon155:c.C31720T:p.P10574S	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	233	1271	16	2	0	20	0.0078064	.	.	56080	not_provided|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Dilated_cardiomyopathy_1G|Tibial_muscular_dystrophy|Early-onset_myopathy_with_fatal_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|Primary_dilated_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.261	B	0.07	B	.	.	1.000	D	2.305	M	-0.61	T	-0.642	T	0.242	T	0.215	0.830	8.346	1.01	0.850	0.235	1.972	0.131	0.0164089182367	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs200992277	0.0027	0.0022	0.0019	0.0034	0.0214	0.0026	0.0025	0.0204	0.0200	0.0004	0.0009	0.0009	0.0002	6.625e-05	0.0046	0.0014	0.0029	0.0214	0.0022	0.0019	0.0018	0.0026	0.0313	0.0020	0.0019	0.0261	0.0242	0.0002	0	0.0024	0.0011	0	0	0	0.0021	0.0022	0.0313	0.04	0.42199	D	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999912	0.51042	D	.	.	.	-0.61	0.71779	T	-3.52	0.68412	D	0.182	0.22357	-0.6420	0.63060	T	0.242	0.61012	T	9	0.0039824545	0.00077	T	0.016409	0.37653	T	0.131	0.35738	.	.	0.242244723065	0.23846	.	.	0.10059525999	0.11367	0.374639153481	0.21494	T	.	.	.	-0.104603	0.35662	T	-0.388031	0.34782	T	0.0182385127210197	0.00544	T	0.525248	0.26315	T	.	.	.	.	.	.	.	.	-8.519	0.64555	D	.	.	0.159	0.35098	B	.;.;.	.;.;.	1.398936	0.18129	13.56	0.77473308228391879	0.11891	0.11269	0.16522	N	AEFI	0.073094	0.14609	N	-0.457765735320585	0.23478	1.261062	-0.487687774750454	0.22491	1.221904	0.00265572977610148	0.09608	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.12	1.01	0.19044	-0.131000	0.10461	.	.	0.508000	0.23123	0.000000	0.06391	0.000000	0.08366	0.883000	0.42306	0.1907:0.1228:0.4717:0.2148	1.972	0.03202	441	0.80015	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	160.0	13	chr2	178659026	.	G	A	160.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.00;DP=278;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0259;MLEAC=1;MLEAF=0.024;MQ=25.85;MQRankSum=-1.989e+00;QD=13.33;ReadPosRankSum=-8.660e-01;SOR=0.293	GT:AD:DP:GQ:PL	0/0:14,0:14:42:0,42,476	20	0	1	0
chr2	178672473	178672473	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon149:c.G30961A:p.V10321I	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	YES	1	1515	6	0	0	6	0.00197628	.	.	56074	Dilated_cardiomyopathy_1G|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Cardiovascular_phenotype|TTN-related_disorder|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiomyopathy|Tibial_muscular_dystrophy|not_provided|not_specified	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN230736|.|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	.	.	1.000	D	1.15	L	-0.09	T	-0.865	T	0.164	T	0.126	1.895	12.29	5.19	2.572	1.143	9.275	0.096	0.0295054330711	0.0029	0.000998403	0.0037	0.0010	0.0011	0	0.0024	0.0060	0.0022	0.0001	0.0034152	528	154602	rs202014478	0.0044	0.0044	0.0045	0.0043	0.0053	0.0043	0.0043	0.0052	0.0052	0.0009	0.0015	0.0008	0	0.0019	0.0014	0.0053	0.0035	0.0002	0.0028	0.0028	0.0031	0.0025	0.0050	0.0026	0.0025	0.0046	0.0044	0.0006	0	0.0022	0.0012	0	0.0017	0	0.0050	0.0024	0	0.268	0.16144	T	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	1.195	0.30194	L	-0.09	0.64818	T	-0.28	0.11547	N	0.094	0.07398	-0.8651	0.50893	T	0.164	0.50094	T	9	0.004096329	0.00080	T	0.029505	0.52003	D	0.096	0.27654	.	.	0.370789594751	0.36692	.	.	0.0686030123765	0.07686	0.452790766954	0.32325	T	.	.	.	-0.542035	0.00326	T	-0.549177	0.17406	T	0.00597533625814752	0.00066	T	0.410359	0.10588	T	.	.	.	.	.	.	.	.	-5.304	0.40190	T	.	.	0.096	0.15430	B	.;.;.;.	.;.;.;.	1.993350	0.25328	16.72	0.96129975553843383	0.28802	0.15508	0.18946	N	AEFBI	0.210716	0.33657	N	-0.250046839986206	0.31101	1.740621	-0.122074926401464	0.34501	1.985312	0.00578402891345855	0.11042	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.19	5.19	0.71428	0.003000	0.12984	.	.	0.549000	0.26987	0.000000	0.06391	1.000000	0.68203	0.976000	0.56436	0.0:0.7969:0.0:0.2031	9.275	0.36855	399	0.82780	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1341.98	34	chr2	178672473	.	C	T	1341.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=713;ExcessHet=0.0000;FS=0.745;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.16;ReadPosRankSum=1.66;SOR=0.690	GT:AD:DP:GQ:PL	0/0:31,0:31:81:0,81,1215	20	0	1	0
chr2	178675085	178675085	T	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon145:c.A30663C:p.E10221D	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	2	1497	23	0	0	23	0.00762347	.	.	56069	not_provided|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiomyopathy|not_specified|Primary_dilated_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.256	B	0.076	B	.	.	1.000	D	1.79	L	-0.99	T	-0.656	T	0.287	T	0.13	1.930	12.41	3.31	0.428	1.245	7.624	0.114	.	0.0015	0.00599042	0.0044	0.0002	0.0012	0.0002	0	0.0018	0.0011	0.0240	0.0036869	570	154602	rs140640738	0.0021	0.0022	0.0015	0.0026	0.0204	0.0020	0.0020	0.0195	0.0192	0.0005	0.0007	0.0009	0.0002	7.563e-05	0.0039	0.0010	0.0028	0.0204	0.0018	0.0018	0.0016	0.0021	0.0239	0.0016	0.0016	0.0204	0.0190	0.0003	0	0.0018	0.0009	0	0	0	0.0017	0.0019	0.0239	0.226	0.18562	T	.	.	.	0.256	0.31372	B	0.076	0.28435	B	.	.	.	.	1	0.81001	D	2.395	0.69210	M	-0.99	0.76168	T	-1.17	0.29933	N	0.162	0.17002	-0.6563	0.62439	T	0.287	0.65899	T	9	0.0028508902	0.00045	T	.	.	.	0.114	0.32008	0.103	0.01643	0.315314060047	0.31143	.	.	0.0921290850825	0.10402	0.378360688686	0.22023	T	.	.	.	-0.455528	0.01047	T	-0.410855	0.32125	T	0.0261382429619195	0.01425	T	0.39586	0.12846	T	.	.	.	.	.	.	.	.	-8.571	0.64898	D	.	.	0.381	0.58487	A	.;.;.;.	.;.;.;.	2.365297	0.30344	18.41	0.79256076521976482	0.12660	0.92980	0.57023	D	AEFBI	0.394143	0.47151	N	-0.239806522051127	0.31511	1.767698	-0.183750437617861	0.32132	1.825115	0.00121544646940768	0.08343	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.7	3.31	0.37025	0.842000	0.27280	.	.	0.665000	0.62972	0.955000	0.33325	1.000000	0.68203	0.867000	0.41218	0.126:0.0681:0.0:0.806	7.624	0.27367	394	0.83065	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1149.98	34	chr2	178675085	.	T	G	1149.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.990e-01;DP=782;ExcessHet=0.0000;FS=0.810;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=-3.640e-01;SOR=0.642	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1067	20	0	1	0
chr2	178684680	178684680	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon128:c.C28892T:p.P9631L	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	0	1485	36	1	0	38	0.012633	.	.	56038	Brugada_syndrome|Ventricular_tachycardia|Supraventricular_tachycardia|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|Cardiomyopathy|Cardiovascular_phenotype|Dilated_cardiomyopathy_1G|not_specified|not_provided	MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|EFO:EFO_0005306,Human_Phenotype_Ontology:HP:0004756,MONDO:MONDO:0005477,MedGen:C0042514|Human_Phenotype_Ontology:HP:0004755,MedGen:C0039240|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.001	B	0.002	B	.	.	1.000	D	1.195	L	0.01	T	-0.886	T	0.128	T	0.297	1.657	11.50	4.76	1.526	2.428	9.833	0.099	0.0676674220286	0.0043	0.00179712	0.0051	0.0011	0.0040	0	0.0003	0.0077	0.0068	0.0020	0.0051552	797	154602	rs72650031	0.0062	0.0062	0.0062	0.0062	0.0138	0.0061	0.0061	0.0113	0.0104	0.0011	0.0048	0.0298	0	0.0008	0.0138	0.0066	0.0078	0.0019	0.0044	0.0044	0.0046	0.0043	0.0061	0.0041	0.0040	0.0056	0.0054	0.0013	0	0.0051	0.0271	0	0.0004	0.0170	0.0061	0.0066	0.0017	0.018	0.50676	D	.	.	.	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	0.953341	0.81001	D	.	.	.	0.01	0.62459	T	-4.2	0.75695	D	0.307	0.36884	-0.8865	0.49231	T	0.128	0.43564	T	9	0.0047104955	0.00099	T	0.067667	0.70230	D	0.099	0.28413	.	.	0.399449838166	0.39556	.	.	0.0853964992584	0.09651	0.350199282169	0.17950	T	.	.	.	-0.406057	0.02112	T	-0.34951	0.39260	T	0.0146866148041845	0.00305	T	0.670133	0.37107	T	.	.	.	.	.	.	.	.	-5.785	0.44513	T	.	.	0.118	0.24054	B	.;.;.;.	.;.;.;.	2.575469	0.33383	19.32	0.83374782489182619	0.14691	0.90434	0.51607	D	AEFBI	0.475036	0.51905	N	-0.154510048558569	0.35044	2.007901	-0.0064238421302907	0.39425	2.337319	0.0313608349272037	0.13997	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.63	4.76	0.60189	1.502000	0.35312	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0699:0.0:0.7916:0.1385	9.833	0.40121	393	0.83123	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1272.98	36	chr2	178684680	.	G	A	1272.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=787;ExcessHet=0.0000;FS=1.910;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.20;ReadPosRankSum=0.318;SOR=0.581	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr2	178709578	178709578	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon96:c.A25009G:p.I8337V	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	YES	0	1519	3	0	0	3	0.000986518	.	.	173342	Dilated_cardiomyopathy_1G|TTN-related_disorder|not_provided|Early-onset_myopathy_with_fatal_cardiomyopathy|not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Supraventricular_tachycardia|Tibial_muscular_dystrophy	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|.|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|Human_Phenotype_Ontology:HP:0004755,MedGen:C0039240|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.0	B	0.002	B	.	.	1.000	D	-1.025	N	1.23	T	-1.067	T	0.032	T	0.267	0.374	6.030	-0.833	-0.355	0.340	12.287	0.066	0.0104756147227	0.0002	.	0.0002	0	8.772e-05	0	0	0.0002	0.0011	0	0.0001294	20	154602	rs371826762	0.0002	0.0002	0.0002	0.0002	0.0056	0.0002	0.0002	0.0041	0.0036	0	0.0002	0.0025	7.596e-05	0	0.0056	0.0001	0.0003	3.487e-05	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	6.803e-05	5.087e-05	2.405e-05	0	0	0.0023	0.0002	0	0.0238	0.0001	0.0005	0	0.583	0.05936	T	.	.	.	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.81001	D	.	.	.	1.23	0.36872	T	-0.28	0.11547	N	0.113	0.10769	-1.0668	0.10131	T	0.032	0.13811	T	9	0.0077707767	0.00177	T	0.010476	0.27066	T	0.066	0.19193	.	.	0.119812018005	0.11559	.	.	0.0706562436126	0.07918	0.250583171844	0.03830	T	.	.	.	-0.358762	0.04200	T	-0.527412	0.19545	T	0.00681246974402369	0.00077	T	0.631037	0.28129	T	.	.	.	.	.	.	.	.	-1.64	0.02518	T	.	.	0.058	0.00670	B	.;.;.;.	.;.;.;.	0.402988	0.07739	4.423	0.6451002309517706	0.07513	0.03339	0.08418	N	AEFBI	0.124991	0.24131	N	-1.26632090298818	0.04088	0.1838568	-1.19982553831079	0.05914	0.2831301	0.00256020339293704	0.09527	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.9	-0.833	0.10237	0.338000	0.19599	.	.	-0.123000	0.13640	0.036000	0.20778	0.023000	0.20922	0.382000	0.26379	0.0:0.5554:0.0:0.4446	12.287	0.54114	369	0.84396	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1104.98	33	chr2	178709578	.	T	C	1104.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.360e-01;DP=775;ExcessHet=0.0000;FS=0.784;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=-5.470e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1240	20	0	1	0
chr2	178713271	178713271	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon90:c.A23131G:p.I7711V	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	0	1512	10	0	0	10	0.00329598	.	.	136110	Cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided|Tip-toe_gait	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.677	P	0.322	B	.	.	1.000	D	0.32	N	-0.22	T	-0.677	T	0.189	T	0.313	1.669	11.54	5.96	2.285	2.089	16.448	0.094	.	0.0005	0.00219649	0.0043	0	0.0007	0	0.0309	0.0018	0.0173	0.0089	0.0027813	430	154602	rs72648994	0.0022	0.0022	0.0021	0.0023	0.0072	0.0021	0.0021	0.0067	0.0065	0.0002	0.0001	0	0	0.0267	0.0026	0.0010	0.0014	0.0072	0.0027	0.0027	0.0018	0.0037	0.0056	0.0025	0.0024	0.0040	0.0034	9.624e-05	0	0.0002	0	0	0.0270	0	0.0014	0.0005	0.0056	0.368	0.11623	T	.	.	.	0.677	0.41330	P	0.322	0.41795	B	.	.	.	.	1	0.81001	D	.	.	.	-0.22	0.66474	T	-0.56	0.17003	N	0.331	0.38438	-0.6768	0.61520	T	0.189	0.54034	T	9	0.005237788	0.00114	T	.	.	.	0.094	0.27141	.	.	0.367042808489	0.36316	.	.	0.152078820039	0.17161	0.431877821684	0.29465	T	.	.	.	-0.401615	0.02260	T	-0.345524	0.39717	T	0.0411331792504099	0.03896	T	0.756924	0.45238	T	.	.	.	.	.	.	.	.	-7.437	0.59140	T	.	.	0.115	0.23113	B	.;.;.;.	.;.;.;.	2.860394	0.37796	20.6	0.95139486522403538	0.26260	0.92404	0.55634	D	AEFBHI	0.610370	0.59923	D	0.171333571085859	0.49825	3.178797	0.314749979411708	0.56405	3.803849	0.909681063613697	0.26318	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.687789	0.68303	1	.	.	5.96	5.96	0.96695	2.053000	0.40951	.	.	0.665000	0.62972	0.982000	0.35529	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	16.448	0.83801	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2912.98	44	chr2	178713271	.	T	C	2912.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.51;DP=1111;ExcessHet=0.0000;FS=8.674;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=0.589;SOR=1.211	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1229	20	0	1	0
chr2	178717244	178717244	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon85:c.G21758A:p.R7253H	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	1	1495	26	0	0	26	0.00862069	.	.	55924	Early-onset_myopathy_with_fatal_cardiomyopathy|Primary_dilated_cardiomyopathy|Tibial_muscular_dystrophy|Dilated_cardiomyopathy_1G|not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided|Cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure	MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.99	D	0.683	P	.	.	1.000	D	1.105	L	-0.32	T	-0.418	T	0.313	T	0.381	0.902	8.669	5.52	2.745	1.953	19.812	0.192	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0	0	0.0018	0.0011	0.0232	0.0037192	575	154602	rs149855485	0.0023	0.0023	0.0016	0.0029	0.0210	0.0022	0.0022	0.0202	0.0199	0.0004	0.0007	0.0008	7.559e-05	7.493e-05	0.0043	0.0011	0.0027	0.0210	0.0018	0.0018	0.0015	0.0021	0.0245	0.0016	0.0015	0.0209	0.0196	0.0002	0	0.0017	0.0009	0.0002	0	0	0.0017	0.0014	0.0245	0.043	0.41364	D	.	.	.	0.99	0.63424	D	0.683	0.53559	P	.	.	.	.	1	0.81001	D	.	.	.	-0.32	0.68181	T	-2.41	0.52938	N	0.226	0.32259	-0.4178	0.71463	T	0.313	0.68326	T	9	0.005892992	0.00132	T	.	.	.	0.192	0.47115	.	.	0.44711355012	0.44333	.	.	0.349254591091	0.36782	0.562482059002	0.47618	T	.	.	.	-0.371096	0.03539	T	-0.288911	0.45886	T	0.0385244386504448	0.03425	T	0.869813	0.73860	D	.	.	.	.	.	.	.	.	-5.161	0.38543	T	.	.	0.216	0.44617	B	.;.;.;.	.;.;.;.	3.448176	0.47999	22.5	0.86646601825568803	0.16677	0.81721	0.41068	D	AEFBCI	0.334148	0.43301	N	0.419899694833852	0.62517	4.468879	0.441882660854808	0.64196	4.669426	0.364662819652845	0.19811	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.52	5.52	0.82153	1.594000	0.36307	.	.	0.599000	0.40250	0.790000	0.29595	1.000000	0.68203	0.929000	0.46594	0.0:1.0:0.0:0.0	19.812	0.96549	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1531.98	34	chr2	178717244	.	C	T	1531.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.360e-01;DP=833;ExcessHet=0.0000;FS=1.380;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.61;ReadPosRankSum=-5.530e-01;SOR=0.655	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1125	20	0	1	0
chr2	178720104	178720104	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon78:c.C19806G:p.F6602L	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	0	1496	26	0	0	26	0.00861498	.	.	55886	Tibial_muscular_dystrophy|Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1G|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided|Cardiomyopathy	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.885	P	0.484	P	.	.	0.993	D	1.77	L	-0.23	T	-0.546	T	0.246	T	0.388	1.199	9.870	-2.56	-0.309	0.884	13.015	0.185	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0	0	0.0018	0.0011	0.0232	0.003661	566	154602	rs149523263	0.0022	0.0022	0.0016	0.0028	0.0210	0.0022	0.0021	0.0202	0.0199	0.0003	0.0007	0.0008	5.039e-05	7.491e-05	0.0043	0.0011	0.0027	0.0210	0.0018	0.0018	0.0015	0.0021	0.0245	0.0016	0.0015	0.0209	0.0195	0.0002	0	0.0017	0.0009	0	0	0	0.0016	0.0014	0.0245	0.315	0.13789	T	.	.	.	0.885	0.48692	P	0.484	0.47189	P	.	.	.	.	0.992504	0.41663	D	.	.	.	-0.23	0.66652	T	-3.28	0.65627	D	0.39	0.45615	-0.5456	0.66952	T	0.246	0.61530	T	9	0.0049153566	0.00105	T	.	.	.	0.185	0.45933	0.578	0.70347	0.323615622048	0.31974	.	.	0.255002372626	0.28080	0.692162632942	0.66016	T	.	.	.	-0.403512	0.02196	T	-0.335473	0.40855	T	0.0733571982613626	0.09114	T	0.655934	0.29249	T	.	.	.	.	.	.	.	.	-5.741	0.47264	T	.	.	0.925	0.84574	P	.;.;.;.	.;.;.;.	0.710161	0.10788	7.474	0.85799480559834507	0.16120	0.31520	0.24358	N	AEFBI	0.349517	0.44328	N	-0.44675294682716	0.23851	1.283709	-0.585824586972663	0.19863	1.06759	0.0050570851190488	0.10811	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.9	-2.56	0.05903	0.894000	0.27983	.	.	-0.113000	0.14837	0.173000	0.23973	0.001000	0.17328	0.989000	0.64315	0.7189:0.0:0.2811:0.0	13.015	0.58157	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	2364.98	41	chr2	178720104	.	G	C	2364.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.972e+00;DP=935;ExcessHet=0.0000;FS=1.161;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=0.160;SOR=0.572	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1412	20	0	1	0
chr2	178720636	178720636	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon77:c.C19394T:p.S6465F	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.171	B	0.207	B	.	.	0.998	D	2.675	M	-0.36	T	-0.298	T	0.369	T	0.184	0.844	8.410	4.97	2.770	0.551	16.713	0.283	0.0682445974442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.36113	T	.	.	.	0.171	0.28729	B	0.207	0.37187	B	.	.	.	.	0.997516	0.43951	D	.	.	.	-0.36	0.68754	T	-2.66	0.56945	D	0.247	0.28849	-0.2984	0.75029	T	0.369	0.72887	T	9	0.172149	0.31972	T	0.068245	0.70395	D	0.283	0.60100	0.49	0.57573	0.496628014799	0.49298	.	.	0.148105740825	0.16702	0.285507917404	0.08271	T	.	.	.	-0.132323	0.31120	T	-0.42785	0.30181	T	0.324166992814601	0.25990	T	0.50225	0.17709	T	.	.	.	.	.	.	.	.	-6.918	0.53646	T	.	.	0.096	0.15520	B	.;.;.;.	.;.;.;.	2.902270	0.38468	20.7	0.95182647348234639	0.26355	0.19771	0.20789	N	AEFBI	0.181214	0.30853	N	0.054772766566553	0.44363	2.711699	0.104573467414795	0.44782	2.753366	0.0412182114002588	0.14474	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.87	4.97	0.65419	0.833000	0.27157	.	.	0.676000	0.76740	0.118000	0.23139	1.000000	0.68203	0.992000	0.67800	0.0:0.2364:0.7636:0.0	16.713	0.85248	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	481.98	34	chr2	178720636	.	G	A	481.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=759;ExcessHet=0.0000;FS=3.069;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.39;ReadPosRankSum=-3.091e+00;SOR=0.293	GT:AD:DP:GQ:PL	0/0:27,0:27:72:0,72,1080	20	0	1	0
chr2	178724331	178724331	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon69:c.C17312T:p.A5771V	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	1	1469	50	2	0	54	0.0180481	.	.	55845	Tibial_muscular_dystrophy|not_provided|Dilated_cardiomyopathy_1G|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiovascular_phenotype|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.096	B	0.089	B	.	.	1.000	D	0.96	L	-0.33	T	-1.127	T	0.002	T	0.391	2.328	13.74	6.02	2.865	1.712	16.243	0.243	.	0.0026	0.0357428	0.0165	0.0012	0.0025	0.1206	0.0234	0.0040	0.0201	0.0283	0.0150904	2333	154602	rs72648960	0.0081	0.0081	0.0075	0.0088	0.1315	0.0080	0.0080	0.1285	0.1273	0.0011	0.0015	0.0107	0.1315	0.0249	0.0165	0.0016	0.0128	0.0263	0.0089	0.0089	0.0075	0.0104	0.1238	0.0085	0.0084	0.1159	0.1127	0.0017	0.0044	0.0019	0.0109	0.1238	0.0243	0.0034	0.0025	0.0104	0.0257	0.074	0.34621	T	.	.	.	0.096	0.25489	B	0.089	0.29769	B	.	.	.	.	1	0.81001	D	.	.	.	-0.33	0.68329	T	-2.43	0.53258	N	0.144	0.19861	-1.1269	0.01936	T	0.002	0.00738	T	9	0.0019120276	0.00026	T	.	.	.	0.243	0.54921	.	.	.	.	.	.	0.103848864121	0.11752	0.359437406063	0.19304	T	.	.	.	-0.453742	0.01073	T	-0.294725	0.45280	T	0.0290006924244436	0.01838	T	0.756924	0.39714	T	.	.	.	.	.	.	.	.	-5.853	0.45033	T	.	.	0.121	0.25265	B	.;.;.;.	.;.;.;.	3.504248	0.49039	22.7	0.96988817785172754	0.31892	0.91942	0.54598	D	AEFBI	0.709002	0.66323	D	0.0698934415565155	0.45062	2.769151	0.266236103342934	0.53580	3.526084	0.999691923627461	0.41870	0.553676	0.25195	0	0.588015	0.36545	0	0.514364	0.09456	0	0.564101	0.26826	0	.	.	6.02	6.02	0.97559	0.757000	0.26098	.	.	0.676000	0.76740	0.946000	0.32893	1.000000	0.68203	0.990000	0.65344	0.0:0.168:0.832:0.0	16.243	0.82250	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2379.98	40	chr2	178724331	.	G	A	2379.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.150e-01;DP=991;ExcessHet=0.0000;FS=2.348;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.17;ReadPosRankSum=1.36;SOR=0.816	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1332	20	0	1	0
chr2	178727190	178727190	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon66:c.A16443G:p.I5481M	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	2	1494	26	0	0	26	0.00862641	.	.	55832	not_provided|Tibial_muscular_dystrophy|not_specified|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiomyopathy|Early-onset_myopathy_with_fatal_cardiomyopathy|Primary_dilated_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.001	B	0.008	B	.	.	1.000	D	1.035	L	0.97	T	-1.083	T	0.056	T	0.344	0.299	5.621	-6.74	-1.267	-0.954	2.94	0.090	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0	0	0.0018	0.0011	0.0232	0.003661	566	154602	rs146627500	0.0022	0.0022	0.0016	0.0028	0.0210	0.0021	0.0021	0.0201	0.0198	0.0003	0.0007	0.0008	5.04e-05	7.492e-05	0.0043	0.0011	0.0027	0.0210	0.0018	0.0018	0.0015	0.0021	0.0244	0.0016	0.0015	0.0209	0.0195	0.0002	0	0.0017	0.0009	0	0	0	0.0016	0.0014	0.0244	0.114	0.28646	T	.	.	.	0.001	0.07471	B	0.008	0.13708	B	.	.	.	.	1	0.81001	D	.	.	.	0.97	0.42502	T	-0.54	0.16598	N	0.282	0.31925	-1.0827	0.06833	T	0.056	0.23753	T	9	0.003027141	0.00050	T	.	.	.	0.090	0.26093	.	.	0.134241683229	0.13084	.	.	0.0864879405707	0.09766	0.372696995735	0.21219	T	.	.	.	-0.5345	0.00361	T	-0.523629	0.19927	T	0.0105953431527729	0.00148	T	0.708229	0.31875	T	.	.	.	.	.	.	.	.	-3.332	0.15587	T	.	.	0.111	0.21691	B	.;.;.;.	.;.;.;.	0.350729	0.07236	3.837	0.62127654994000703	0.06883	0.05411	0.11281	N	AEFGBCI	0.125355	0.24182	N	-1.21182827757915	0.04826	0.2186909	-1.26363312318132	0.04932	0.2338384	0.999762739685858	0.42728	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.03	-6.74	0.01580	-0.713000	0.05110	.	.	-0.123000	0.13640	0.033000	0.20612	0.000000	0.08366	0.939000	0.47918	0.4322:0.3181:0.0839:0.1659	2.94	0.05470	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	1517.98	38	chr2	178727190	.	T	C	1517.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.380;DP=876;ExcessHet=0.0000;FS=2.830;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.31;ReadPosRankSum=-1.496e+00;SOR=0.490	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,108,1620	20	0	1	0
chr2	178729332	178729332	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon61:c.A15092G:p.N5031S	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	2	1493	27	0	0	27	0.00896117	.	.	55811	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided|Tibial_muscular_dystrophy|not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Primary_dilated_cardiomyopathy	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.362	B	0.11	B	.	.	1.000	D	2.895	M	0.32	T	-0.555	T	0.244	T	0.2	1.084	9.426	5.92	2.255	6.281	12.2	0.286	.	0.0015	0.00599042	0.0044	0.0002	0.0012	0.0002	0.0002	0.0018	0.0011	0.0244	0.0037904	586	154602	rs184412722	0.0023	0.0023	0.0016	0.0029	0.0214	0.0022	0.0022	0.0206	0.0203	0.0004	0.0007	0.0008	0.0002	7.493e-05	0.0042	0.0011	0.0030	0.0214	0.0018	0.0018	0.0015	0.0022	0.0244	0.0017	0.0016	0.0209	0.0195	0.0002	0	0.0018	0.0009	0	9.418e-05	0	0.0017	0.0019	0.0244	0.075	0.34444	T	.	.	.	0.362	0.33945	B	0.11	0.31460	B	.	.	.	.	1	0.81001	D	.	.	.	0.32	0.58468	T	-2.25	0.50337	N	0.417	0.45709	-0.5551	0.66591	T	0.244	0.61272	T	9	0.005814582	0.00130	T	.	.	.	0.286	0.60456	.	.	0.173771789658	0.16945	.	.	0.0891353627514	0.10071	0.453017085791	0.32355	T	.	.	.	-0.448893	0.01146	T	-0.400661	0.33307	T	0.0272107643053202	0.01574	T	0.841416	0.55722	T	.	.	.	.	.	.	.	.	-5.947	0.45833	T	.	.	0.347	0.56370	A	.;.;.;.	.;.;.;.	2.852582	0.37665	20.6	0.93888962463808012	0.23911	0.97952	0.78382	D	AEFBI	0.889010	0.82269	D	0.31910689628272	0.57128	3.879228	0.382029825457792	0.60457	4.233519	0.999998892425968	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.92	5.92	0.95557	6.260000	0.72463	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:0.068:0.0:0.932	12.2	0.53629	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2419.98	46	chr2	178729332	.	T	C	2419.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.191e+00;DP=901;ExcessHet=0.0000;FS=1.215;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.32;ReadPosRankSum=0.369;SOR=0.582	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr2	178729380	178729380	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon61:c.C15044G:p.T5015S	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	1	1489	32	0	0	32	0.0106312	.	.	55809	Tibial_muscular_dystrophy|not_provided|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified|Arrhythmogenic_right_ventricular_cardiomyopathy|Atrial_fibrillation|Primary_dilated_cardiomyopathy|Cardiovascular_phenotype|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiomyopathy	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247|EFO:EFO_0000275,Human_Phenotype_Ontology:HP:0001715,Human_Phenotype_Ontology:HP:0005110,Human_Phenotype_Ontology:HP:0005179,MONDO:MONDO:0004981,MedGen:C0004238|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	.	.	1.000	D	0.31	N	-0.14	T	-1.025	T	0.112	T	0.158	1.003	9.094	3.03	0.349	1.571	4.760	0.065	0.0101612963571	0.0034	0.000599042	0.0030	0.0008	0.0010	0	0.0005	0.0048	0.0067	0.0008	0.0029042	449	154602	rs72648949	0.0028	0.0028	0.0027	0.0028	0.0129	0.0027	0.0027	0.0105	0.0096	0.0010	0.0014	0.0344	0	0.0004	0.0129	0.0023	0.0047	0.0013	0.0026	0.0026	0.0028	0.0024	0.0039	0.0024	0.0023	0.0031	0.0028	0.0003	0	0.0039	0.0277	0	0.0005	0.0102	0.0030	0.0062	0.0015	0.572	0.06145	T	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	.	.	.	-0.14	0.65006	T	-1.27	0.31981	N	0.196	0.22486	-1.0253	0.21985	T	0.112	0.40099	T	9	0.0057101846	0.00127	T	0.010161	0.26368	T	0.065	0.18881	0.409	0.44395	0.139678290688	0.13603	.	.	0.0753460736105	0.08448	0.339321732521	0.16337	T	.	.	.	-0.469353	0.00858	T	-0.45002	0.27695	T	0.00495222478460801	0.00053	T	0.361564	0.11199	T	.	.	.	.	.	.	.	.	-2.424	0.05282	T	.	.	0.076	0.05890	B	.;.;.;.	.;.;.;.	1.283339	0.16833	12.79	0.78433591167916983	0.12299	0.87265	0.46752	D	AEFBI	0.559547	0.56832	D	-0.37346291618185	0.26418	1.441649	-0.204710376662953	0.31366	1.774468	0.937735070618592	0.27311	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.92	3.03	0.34070	1.608000	0.36458	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.607000	0.31564	0.0671:0.2164:0.4546:0.2618	4.760	0.12476	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1978.98	46	chr2	178729380	.	G	C	1978.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.70;DP=939;ExcessHet=0.0000;FS=1.226;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=0.278;SOR=0.687	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr2	178731827	178731827	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon55:c.A13316G:p.Y4439C	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	1	1509	12	0	0	12	0.0039604	.	.	55786	Brugada_syndrome|Cardiomyopathy|not_provided|Tibial_muscular_dystrophy|Cardiovascular_phenotype|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy|TTN-related_disorder|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified	MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|.|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.035	B	0.037	B	.	.	1.000	D	2.665	M	-0.39	T	-0.702	T	0.233	T	0.577	-0.994	0.269	3.8	0.195	5.182	10.476	0.421	0.0762178323699	0.0056	0.00199681	0.0058	0.0019	0.0019	0.0002	0.0023	0.0086	0.0044	0.0044	0.0058667	907	154602	rs72648942	0.0069	0.0069	0.0069	0.0070	0.0077	0.0068	0.0068	0.0076	0.0075	0.0013	0.0021	0.0096	5.039e-05	0.0040	0.0028	0.0077	0.0059	0.0064	0.0047	0.0047	0.0048	0.0046	0.0075	0.0044	0.0043	0.0069	0.0067	0.0013	0	0.0033	0.0081	0.0002	0.0050	0.0034	0.0075	0.0009	0.0035	0.106	0.29688	T	.	.	.	0.035	0.20614	B	0.037	0.23121	B	.	.	.	.	1	0.81001	D	.	.	.	-0.39	0.69158	T	-4.81	0.80767	D	0.364	0.42834	-0.7021	0.60338	T	0.233	0.59904	T	9	0.007775426	0.00177	T	0.076218	0.72479	D	0.421	0.73005	.	.	0.197625483188	0.19356	.	.	0.114869149133	0.12958	0.536030173302	0.43886	T	.	.	.	-0.326411	0.06387	T	-0.228669	0.51901	T	0.0519606309067609	0.05841	T	0.686231	0.40326	T	.	.	.	.	.	.	.	.	-6.539	0.50648	T	.	.	0.217	0.44682	B	.;.;.;.	.;.;.;.	2.318627	0.29686	18.20	0.35224080168223454	0.02199	0.97659	0.76220	D	AEBI	0.805865	0.73033	D	-0.679438391223224	0.16609	0.8477064	-0.580075148853372	0.20013	1.076351	0.995725753796857	0.34289	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.17	3.8	0.42887	5.161000	0.64780	.	.	-0.695000	0.04090	1.000000	0.71638	0.999000	0.35428	0.788000	0.37229	0.1046:0.0592:0.0:0.8362	10.476	0.43850	341	0.85936	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1641.98	82	chr2	178731827	.	T	C	1641.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.21;DP=1070;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.92;ReadPosRankSum=2.00;SOR=0.691	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr2	178732511	178732511	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon53:c.C12818T:p.S4273L	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	0	1521	0	1	0	2	0.00065703	.	.	392316	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|not_provided	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.998	D	0.874	P	.	.	1.000	D	2.875	M	-0.39	T	0.095	D	0.533	D	0.369	1.723	11.72	6.17	2.941	9.869	20.879	0.430	0.0330585741683	.	.	6.655e-05	0.0001	0.0003	0.0002	0	0	0	6.069e-05	5.17e-05	8	154602	rs769165258	1.642e-05	1.642e-05	1.77e-05	1.513e-05	0.0002	1.111e-05	9.34e-06	0.0001	7.819e-05	2.988e-05	0.0002	0	0.0002	0	0	3.598e-06	0	3.479e-05	4.602e-05	4.597e-05	2.57e-05	6.731e-05	0.0002	2.11e-05	1.527e-05	4.739e-05	3.053e-05	0.0001	0	6.55e-05	0	0.0002	0	0	0	0	0	0.159	0.23813	T	.	.	.	0.998	0.73220	D	0.874	0.62049	P	.	.	.	.	0.976277	0.81001	D	.	.	.	-0.39	0.69158	T	-3.22	0.64939	D	0.359	0.40565	0.095	0.84090	D	0.533	0.82689	D	9	0.3810508	0.54196	T	0.033059	0.54712	D	0.430	0.73662	0.51	0.60693	0.776151870229	0.77409	.	.	0.376731259237	0.39108	0.502177119255	0.39132	T	.	.	.	-0.182633	0.23345	T	-0.215402	0.53178	T	0.128156312359073	0.15210	T	0.854814	0.66442	D	.	.	.	.	.	.	.	.	-7.468	0.59581	T	.	.	0.164	0.36234	B	.;.;.;.	.;.;.;.	4.441298	0.68956	25.3	0.96016307211924579	0.28459	0.99411	0.95685	D	AEFBI	0.941890	0.94575	D	0.965836579863478	0.94593	12.88057	0.938724775922663	0.97050	15.51586	0.999999997105737	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	6.17	6.17	0.99707	10.003000	0.99689	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.0:1.0:0.0	20.879	0.99870	341	0.85936	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5528.08	82	chr2	178732511	.	G	A	5528.08	.	AC=2;AF=0.048;AN=42;DP=1138;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.71;SOR=0.715	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	1	0	0
chr2	178739374	178739374	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon45:c.G12770A:p.G4257D	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	1	1494	27	0	0	27	0.00895522	.	.	57005	Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|Cardiomyopathy|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Cardiovascular_phenotype|Dilated_cardiomyopathy_1G|Primary_dilated_cardiomyopathy	MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.002	B	0.007	B	.	.	1.000	N	2.315	M	-1.39	T	-0.421	T	0.463	T	0.473	1.749	11.81	4.11	2.826	2.474	12.781	0.404	.	0.0015	0.00599042	0.0044	0.0002	0.0012	0.0002	0.0002	0.0018	0.0011	0.0237	0.0038033	588	154602	rs55857742	0.0023	0.0023	0.0016	0.0029	0.0215	0.0022	0.0022	0.0207	0.0203	0.0004	0.0007	0.0008	0.0002	7.491e-05	0.0043	0.0011	0.0030	0.0215	0.0018	0.0018	0.0015	0.0022	0.0245	0.0017	0.0016	0.0209	0.0195	0.0002	0	0.0018	0.0009	0	9.413e-05	0	0.0017	0.0019	0.0245	0.072	0.43708	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.39	0.80387	T	-3.42	0.67241	D	0.18	0.29544	-0.4215	0.71343	T	0.463	0.79184	T	9	0.0029836297	0.00049	T	.	.	.	0.404	0.71714	.	.	0.460085558651	0.45632	.	.	0.111281827237	0.12551	0.334556162357	0.15621	T	.	.	.	-0.303831	0.08303	T	-0.191623	0.55438	T	0.0117996802454498	0.00183	T	0.761124	0.38584	T	.	.	.	.	.	.	.	.	-6.471	0.51765	T	.	.	0.263	0.49778	B	.;.;.;.;.;.	.;.;.;.;.;.	2.343047	0.30033	18.31	0.8799622643053111	0.17638	0.83349	0.42473	D	AEFBI	0.400265	0.47522	N	0.110203264691486	0.46938	2.926641	0.242081919184515	0.52201	3.396456	0.989212832954963	0.31756	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.93	4.11	0.47350	2.483000	0.44891	.	.	0.599000	0.40250	0.985000	0.35982	0.982000	0.30508	0.916000	0.45140	0.0:0.8472:0.0:0.1528	12.781	0.56855	341	0.85936	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2531.98	33	chr2	178739374	.	C	T	2531.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=925;ExcessHet=0.0000;FS=0.486;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=-1.550e-01;SOR=0.765	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1199	20	0	1	0
chr2	178739713	178739713	A	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon45:c.T12431C:p.M4144T	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	173399	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided|not_specified|Cardiomyopathy|Cardiovascular_phenotype	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	1.245	L	0.19	T	-0.954	T	0.104	T	0.13	-0.884	0.471	-5.39	-0.542	-1.030	1.424	0.074	0.0289874678886	.	0.000399361	0.0003	0	0	0.0007	0	0.0001	0	0.0016	0.0002717	42	154602	rs191968963	0.0002	0.0002	0.0001	0.0002	0.0021	0.0002	0.0002	0.0016	0.0015	0	0.0002	7.653e-05	0.0011	0	0.0021	3.148e-05	0.0002	0.0018	0.0002	0.0002	0.0001	0.0002	0.0029	0.0001	9.698e-05	0.0018	0.0014	0	0.0110	0	0	0	0	0.0034	0	0	0.0029	0.426	0.36310	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.19	0.61923	T	-0.85	0.24026	N	0.086	0.07398	-0.9536	0.40345	T	0.104	0.38267	T	9	0.0034532547	0.00061	T	0.028987	0.51576	D	0.074	0.21613	.	.	0.202086224978	0.19791	.	.	0.096403652367	0.10881	0.252656757832	0.04052	T	.	.	.	-0.549367	0.00294	T	-0.597283	0.13041	T	0.00808433973166748	0.00096	T	0.374163	0.09347	T	.	.	.	.	.	.	.	.	-2.091	0.04194	T	.	.	0.138	0.30184	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.212505	0.03027	0.463	0.55438088709828415	0.05342	0.06624	0.12640	N	AEFBI	0.210464	0.33635	N	-1.35778016950921	0.03045	0.1354131	-1.44082004526987	0.02854	0.1320737	0.991665887834354	0.32566	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.24	-5.39	0.02457	-0.873000	0.04322	.	.	-0.562000	0.04833	0.000000	0.06391	0.000000	0.08366	0.724000	0.34901	0.3239:0.097:0.3101:0.2689	1.424	0.02178	341	0.85936	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4411.08	33	chr2	178739713	.	A	G	4411.08	.	AC=2;AF=0.048;AN=42;DP=888;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.06;SOR=0.874	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1199	20	1	0	0
chr2	178747082	178747082	-	TATCGCTCTAGAGTCTCTCCTGGGGGTGTGGAG	exonic	TTN	.	nonframeshift insertion	TTN:NM_133379:exon46:c.15317_15318insCTCCACACCCCCAGGAGAGACTCTAGAGCGATA:p.E5112_A5113insTLERYSTPPGE,	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	4	1513	5	0	0	5	0.00164962	.	.	56948	Early-onset_myopathy_with_fatal_cardiomyopathy|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy|Hypertrophic_cardiomyopathy_9|not_provided|TTN-related_disorder|not_specified	MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0013412,MedGen:C1861065,OMIM:613765|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	0.0010	0.0010	0	0.0023	0.0057	0.0022	0.0001	0.0002689	7	26028	rs397517815	0.0031	0.0037	0.0032	0.0031	0.0038	0.0030	0.0030	0.0037	0.0037	0.0005	0.0011	0.0005	0	0.0017	0.0012	0.0038	0.0025	6.964e-05	0.0026	0.0027	0.0028	0.0023	0.0046	0.0024	0.0023	0.0042	0.0040	0.0005	0	0.0020	0.0012	0	0.0017	0	0.0046	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1986.94	33	chr2	178747082	.	A	ATATCGCTCTAGAGTCTCTCCTGGGGGTGTGGAG	1986.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.382e+00;DP=891;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.27;ReadPosRankSum=1.34;SOR=0.649	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1419	20	0	1	0
chr2	178747908	178747908	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133379:exon46:c.G14492A:p.C4831Y,	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	0	1495	27	0	0	27	0.00894929	.	.	56937	not_specified|not_provided|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.0	B	0.0	B	.	.	1.000	N	-0.55	N	0.49	T	-1.040	T	0.056	T	0.085	-0.319	2.485	-0.046	0.051	0.859	4.639	0.071	.	0.0016	0.00599042	0.0048	0.0002	0.0013	0.0002	0.0002	0.0024	0.0022	0.0236	0.004075	630	154602	rs150615457	0.0025	0.0025	0.0019	0.0031	0.0214	0.0024	0.0024	0.0206	0.0202	0.0004	0.0007	0.0078	0.0002	7.494e-05	0.0043	0.0012	0.0034	0.0214	0.0020	0.0020	0.0017	0.0023	0.0243	0.0018	0.0018	0.0207	0.0194	0.0003	0	0.0020	0.0069	0	9.418e-05	0	0.0018	0.0019	0.0243	0.164	0.23360	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.49	0.55775	T	-0.62	0.18248	N	0.365	0.40665	-1.0397	0.17404	T	0.056	0.23677	T	9	0.0023964047	0.00036	T	.	.	.	0.071	0.20720	.	.	0.104622674875	0.10061	.	.	.	.	.	.	.	.	.	.	-0.606244	0.00133	T	-0.626684	0.10667	T	0.000297577760647982	0.00002	T	0.352165	0.07899	T	.	.	.	.	.	.	.	.	-2.316	0.04644	T	.	.	.	.	.	.	.	0.582094	0.09507	6.283	0.46977788880536381	0.03805	0.06117	0.12094	N	ALL	0.051159	0.09011	N	-1.2018487862931	0.04973	0.2256495	-1.16424173951511	0.06516	0.3138828	0.999981151506482	0.51787	0.559995	0.30671	0	0.573888	0.26702	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	5.62	-0.0456	0.13179	0.703000	0.25321	.	.	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.1987:0.2859:0.0:0.5154	4.639	0.11923	341	0.85936	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	2898.98	33	chr2	178747908	.	C	T	2898.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.622e+00;DP=1122;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.61;ReadPosRankSum=-1.122e+00;SOR=0.670	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1419	20	0	1	0
chr2	178748464	178748464	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133379:exon46:c.A13936G:p.K4646E,	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	5	1464	49	4	0	57	0.0190955	.	.	56928	not_provided|TTN-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.06	T	0.002	B	0.009	B	.	.	0.961	N	0.895	L	-0.17	T	-1.008	T	0.096	T	0.161	1.396	10.60	-2.52	-0.703	-0.315	6.312	0.041	.	0.0065	0.00259585	0.0082	0.0013	0.0049	0	0.0024	0.0107	0.0122	0.0111	0.0076196	1178	154602	rs140909116	0.0069	0.0069	0.0066	0.0072	0.0163	0.0068	0.0067	0.0136	0.0127	0.0013	0.0050	0.0405	0	0.0032	0.0163	0.0062	0.0093	0.0119	0.0058	0.0058	0.0061	0.0055	0.0093	0.0055	0.0054	0.0072	0.0068	0.0013	0	0.0045	0.0427	0.0002	0.0026	0.0272	0.0075	0.0095	0.0093	0.0	0.91255	D	0.021	0.58089	D	0.002	0.09854	B	0.009	0.14300	B	.	.	.	.	1	0.26107	N	.	.	.	-0.17	0.65563	T	-1.23	0.31170	N	0.142	0.14196	-1.0076	0.27665	T	0.096	0.36185	T	9	0.0027041435	0.00042	T	.	.	.	0.041	0.10877	.	.	0.303123707472	0.29912	.	.	.	.	.	.	.	.	.	.	-0.478046	0.00759	T	-0.449068	0.27799	T	0.00851544510352112	0.00104	T	0.290171	0.05279	T	.	.	.	.	.	.	.	.	-3.478	0.16125	T	.	.	.	.	.	.	.	-0.557152	0.01693	0.122	0.55270828152291973	0.05307	0.06636	0.12653	N	AEBI	0.099856	0.20091	N	-1.21449534428944	0.04789	0.2168849	-1.26204783316918	0.04955	0.2349757	0.99500758879886	0.33904	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.71	-2.52	0.05978	-0.106000	0.10860	.	.	-0.692000	0.04118	0.036000	0.20778	0.000000	0.08366	0.026000	0.12556	0.0:0.3421:0.2383:0.4196	6.312	0.20378	341	0.85936	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	1979.98	33	chr2	178748464	.	T	C	1979.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.08;DP=1142;ExcessHet=0.0000;FS=0.590;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=2.02;SOR=0.782	GT:AD:DP:GQ:PL	0/1:85,72:157:99:1994,0,2362	20	0	1	0
chr2	178750222	178750222	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133379:exon46:c.G12178A:p.A4060T,	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1183060	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.57	T	0.003	B	0.004	B	.	.	1.000	N	0	N	0.28	T	-1.031	T	0.075	T	0.112	1.138	9.635	2.88	0.844	0.505	4.101	0.028	0.00738157452989	.	.	4.134e-05	0	0	0	0	7.512e-05	0	0	4.53e-05	7	154602	rs770870896	5.817e-05	5.814e-05	5.72e-05	5.916e-05	0.0002	4.812e-05	4.433e-05	6.149e-05	5.655e-05	0	0	0	0	0	0.0002	7.467e-05	1.657e-05	0	3.947e-05	3.938e-05	1.287e-05	6.726e-05	7.366e-05	1.717e-05	1.131e-05	2.851e-05	1.861e-05	0	0	0	0	0	0	0	7.366e-05	0.0005	0	0.204	0.20078	T	0.693	0.05863	T	0.003	0.11197	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	.	.	.	0.28	0.59037	T	-0.04	0.07590	N	0.059	0.03069	-1.0312	0.20066	T	0.075	0.30242	T	9	0.060110956	0.07331	T	0.007382	0.19576	T	0.028	0.06331	0.373	0.38503	0.177238962908	0.17366	.	.	.	.	.	.	.	.	.	.	-0.405257	0.02138	T	-0.583232	0.14257	T	0.0278445306140882	0.01665	T	0.452755	0.12846	T	.	.	.	.	.	.	.	.	-3.661	0.18744	T	.	.	.	.	.	.	.	0.992733	0.13709	10.25	0.98902598925114982	0.48217	0.11396	0.16606	N	AEFGBI	0.103039	0.20653	N	-0.945897763124768	0.09785	0.4646483	-0.876615715984378	0.12649	0.6518864	0.983591060525443	0.30584	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.76	2.88	0.32617	0.070000	0.14440	.	.	0.599000	0.40250	0.000000	0.06391	0.914000	0.28189	0.015000	0.10482	0.2988:0.4782:0.0:0.2229	4.101	0.09488	341	0.85936	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1314.98	33	chr2	178750222	.	C	T	1314.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.181;DP=1141;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.27;ReadPosRankSum=-1.440e+00;SOR=0.708	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:112,0:112:99:.:.:0,120,1800	20	0	1	0
chr2	178750591	178750591	T	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133379:exon46:c.A11809C:p.K3937Q,	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	1	1519	2	0	0	2	0.000657895	.	.	173431	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.53	T	0.012	B	0.017	B	.	.	1.000	N	0.805	L	0.27	T	-1.010	T	0.111	T	0.041	1.944	12.46	4.38	1.024	0.651	6.816	0.035	0.0121698323574	.	0.000399361	0.0003	0	0	0	0	0.0001	0	0.0016	0.0002393	37	154602	rs562658562	0.0002	0.0002	0.0001	0.0002	0.0023	0.0001	0.0001	0.0016	0.0015	0	0.0002	7.665e-05	0	0	0.0023	3.599e-05	0.0003	0.0018	0.0002	0.0002	0.0001	0.0002	0.0029	0.0001	9.71e-05	0.0018	0.0014	0	0.0110	0	0	0	0	0.0034	0	0	0.0029	0.354	0.12148	T	0.309	0.19782	T	0.012	0.16265	B	0.017	0.18140	B	.	.	.	.	1	0.08975	N	.	.	.	0.27	0.59176	T	-0.55	0.16799	N	0.122	0.11340	-1.0098	0.26981	T	0.111	0.39794	T	9	0.004091114	0.00080	T	0.01217	0.30502	T	0.035	0.08770	.	.	0.0666544352282	0.05500	.	.	.	.	.	.	.	.	.	.	-0.575488	0.00205	T	-0.634803	0.10053	T	0.011694859082518	0.00179	T	0.455954	0.13062	T	.	.	.	.	.	.	.	.	-4.169	0.26301	T	.	.	.	.	.	.	.	1.448701	0.18694	13.88	0.88862503579948582	0.18316	0.13472	0.17875	N	AEFGBI	0.102000	0.20472	N	-0.851448582218031	0.12013	0.5830914	-0.814006017306996	0.14156	0.7382448	0.995802419126591	0.34336	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.55	4.38	0.52019	1.150000	0.31250	.	.	0.665000	0.62972	0.003000	0.16062	0.996000	0.32793	0.032000	0.13371	0.0:0.0772:0.1541:0.7687	6.816	0.23013	341	0.85936	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.04762	4242.08	110	chr2	178750591	.	T	G	4242.08	.	AC=2;AF=0.048;AN=42;DP=2515;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.40;SOR=0.879	GT:AD:DP:GQ:PL	0/0:129,0:129:99:0,120,1800	20	1	0	0
chr2	178756410	178756410	A	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133437:exon44:c.T10553C:p.I3518T	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	2	1514	5	1	0	7	0.00230643	.	.	517488	not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|not_specified	MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	.	.	-0.26	T	-0.929	T	0.154	T	0.035	0.648	7.477	1.32	-0.073	1.165	1.401	0.141	0.012017491557	.	0.000798722	0.0002	0.0001	0	0	0	3.003e-05	0	0.0012	0.0001746	27	154602	rs527924868	9.374e-05	9.371e-05	7.216e-05	0.0001	0.0012	8.094e-05	7.586e-05	0.0010	0.0010	0	2.237e-05	0	0	0	0.0005	2.159e-05	6.626e-05	0.0012	0.0001	0.0001	5.14e-05	0.0002	0.0023	7.087e-05	5.744e-05	0.0013	0.0010	7.217e-05	0	0	0	0	0	0	4.41e-05	0	0.0023	0.376	0.11334	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.26	0.67187	T	-0.23	0.10656	N	0.177	0.19055	-0.9291	0.44270	T	0.154	0.48378	T	8	0.0072597563	0.00165	T	0.012017	0.30212	T	0.141	0.37795	0.53	0.63707	0.39798585902	0.39410	.	.	0.105715252096	0.11951	.	.	.	.	.	.	-0.559901	0.00254	T	-0.617569	0.11376	T	0.0202820408286895	0.00728	T	0.39866	0.10107	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.304585	0.17072	12.94	0.71462420838090823	0.09637	0.04325	0.09882	N	AEFGBI	.	.	.	-0.710662544728301	0.15721	0.7947848	-0.716643614856378	0.16546	0.8758316	0.999927896473403	0.46280	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.16	1.32	0.20897	1.200000	0.31854	.	.	0.756000	0.94297	0.001000	0.13787	0.000000	0.08366	0.821000	0.38685	0.3985:0.2468:0.2329:0.1217	1.401	0.02134	341	0.85936	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	2264.98	45	chr2	178756410	.	A	G	2264.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.431;DP=987;ExcessHet=0.0000;FS=3.652;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.34;ReadPosRankSum=0.449;SOR=0.619	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr2	178767787	178767787	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon39:c.G9305A:p.R3102H	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	102219	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Early-onset_myopathy_with_fatal_cardiomyopathy|Hypertrophic_cardiomyopathy_9|not_provided	MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0013412,MedGen:C1861065,OMIM:613765|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	D	1.1	L	3.54	T	-1.210	T	0.048	T	0.708	3.706	18.82	6.03	2.854	3.656	20.567	0.267	0.0324243537786	0.0002	0.000199681	2.473e-05	0	0	0	0	1.499e-05	0	0.0001	3.88e-05	6	154602	rs368786036	5.678e-05	5.678e-05	5.854e-05	5.5e-05	8.961e-05	4.676e-05	4.301e-05	5.074e-05	4.653e-05	8.961e-05	0	0	2.519e-05	0	0	6.295e-05	4.967e-05	6.956e-05	5.253e-05	5.25e-05	5.139e-05	5.373e-05	0.0002	2.556e-05	1.829e-05	3.762e-05	2.575e-05	2.406e-05	0	0	0	0	0	0	8.82e-05	0	0.0002	0.188	0.27544	T	0.086	0.40909	T	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.997926	0.50806	D	.	.	.	3.54	0.04799	T	-2.99	0.70793	D	0.285	0.65930	-1.2098	0.00090	T	0.048	0.20632	T	9	0.17465985	0.32356	T	0.032424	0.54256	D	0.267	0.58126	.	.	0.227260227426	0.22338	.	.	0.515550123524	0.49465	0.668910264969	0.62682	T	.	.	.	-0.188343	0.22501	T	-0.27165	0.47652	T	0.535782918243469	0.33948	D	0.890711	0.66542	D	.	.	.	.	.	.	.	.	-4.581	0.31932	T	.	.	0.162	0.35849	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.986474	0.58638	24.0	0.98327127785041168	0.40300	0.97084	0.72596	D	AEFDBI	0.764335	0.70116	D	0.672642266923154	0.77842	6.752888	0.707935800435143	0.82984	7.903648	1.0	0.98316	0.516011	0.20929	0	0.588066	0.40923	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	6.03	6.03	0.97798	3.724000	0.54690	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.567	0.99354	340	0.86005	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1929.98	33	chr2	178767787	.	C	T	1929.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=977;ExcessHet=0.0000;FS=3.551;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=-1.329e+00;SOR=0.797	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1064	20	0	1	0
chr2	178776633	178776633	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon27:c.C5093T:p.P1698L	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	1	1513	8	0	0	8	0.00263678	.	.	56323	Tibial_muscular_dystrophy|not_provided|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Dilated_cardiomyopathy_1G|not_specified|Cardiomyopathy|Ventricular_tachycardia|Cardiovascular_phenotype|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|EFO:EFO_0005306,Human_Phenotype_Ontology:HP:0004756,MONDO:MONDO:0005477,MedGen:C0042514|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	1.000	D	2.335	M	-0.3	T	-0.291	T	0.201	T	0.596	1.763	11.85	5.05	2.363	9.699	18.391	0.554	.	0.0005	0.00698882	0.0063	0.0002	0.0425	0.0272	0.0003	0.0004	0.0022	0.0007	0.0056403	872	154602	rs75686037	0.0019	0.0020	0.0022	0.0017	0.0334	0.0019	0.0019	0.0320	0.0314	0.0004	0.0334	0.0008	0.0229	0.0002	0.0005	0.0002	0.0019	0.0008	0.0024	0.0024	0.0024	0.0024	0.0270	0.0022	0.0021	0.0234	0.0220	0.0002	0	0.0123	0.0012	0.0270	0.0003	0	0.0001	0.0028	0.0008	0.011	0.55530	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.97372	D	.	.	.	.	0.999991	0.81001	D	.	.	.	-0.3	0.67874	T	-6.62	0.98250	D	0.441	0.76019	-0.2907	0.75246	T	0.201	0.55780	T	9	0.009172559	0.00207	T	.	.	.	0.554	0.81601	.	.	0.757097561137	0.75489	.	.	0.469182032742	0.46230	0.810908734798	0.83632	D	.	.	.	-0.271957	0.11539	T	-0.136964	0.60380	T	0.0674657651155075	0.08290	T	0.966703	0.93576	D	.	.	.	.	.	.	.	.	-9.719	0.72231	D	.	.	0.215	0.44384	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.857024	0.55911	23.7	0.94436474657354152	0.24855	0.98714	0.85918	D	AEFBI	0.946934	0.95694	D	0.843284351774168	0.88721	9.686551	0.796628790791983	0.89558	10.02461	0.999999999980187	0.74766	0.487112	0.14033	0	0.54472	0.11627	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.05	5.05	0.67566	9.832000	0.98328	.	.	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	18.391	0.90427	345	0.85689	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1451.98	36	chr2	178776633	.	G	A	1451.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.417e+00;DP=862;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=2.14;SOR=0.698	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1386	20	0	1	0
chr2	178776739	178776739	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon27:c.C4987G:p.L1663V	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	.	.	0.990	N	2.115	M	-0.66	T	0.020	D	0.536	D	0.304	1.130	9.606	5.34	2.522	6.604	19.049	0.414	0.0147726489888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.56456	D	0.0	0.92824	D	0.999	0.90584	D	0.998	0.88582	D	.	.	.	.	0.989898	0.41045	D	.	.	.	-0.66	0.72348	T	-2.23	0.58896	N	0.345	0.64052	0.020	0.82663	D	0.536	0.82820	D	9	0.36435875	0.52983	T	0.014773	0.35101	T	0.414	0.72479	0.465	0.53566	0.662473173981	0.65964	.	.	0.465770963553	0.46000	0.717854857445	0.69733	T	.	.	.	-0.0103844	0.50212	T	-0.252693	0.49552	T	0.333222288417017	0.26354	T	0.916808	0.71149	D	.	.	.	.	.	.	.	.	-8.213	0.66927	D	.	.	0.608	0.69190	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.539940	0.49714	22.8	0.88723039728343223	0.18203	0.98108	0.79665	D	AEFBI	0.903450	0.85255	D	0.794725804563912	0.85775	8.677712	0.768167274864971	0.87509	9.246127	0.999999279517527	0.74766	0.516011	0.20929	0	0.546412	0.12157	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.34	5.34	0.75982	6.709000	0.74487	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	19.049	0.93018	345	0.85689	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	87.98	36	chr2	178776739	.	G	C	87.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.187e+00;DP=1109;ExcessHet=0.0000;FS=95.908;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.58;ReadPosRankSum=1.65;SOR=6.592	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1386	20	0	1	0
chr2	178777862	178777862	C	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon24:c.G4184C:p.R1395P	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	0	1451	68	3	0	74	0.0248656	.	.	56211	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided|Cardiomyopathy|not_specified|Cardiovascular_phenotype|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure	MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	1.000	D	1.655	L	0.24	T	-0.403	T	0.249	T	0.767	3.188	16.67	5.45	2.723	7.584	19.254	0.459	.	0.0058	0.0103834	0.0111	0.0012	0.0060	0.0088	0.0180	0.0116	0.0132	0.0174	0.010375	1604	154602	rs72647876	0.0097	0.0097	0.0093	0.0100	0.0171	0.0095	0.0095	0.0163	0.0160	0.0014	0.0081	0.0081	0.0042	0.0183	0.0137	0.0092	0.0102	0.0171	0.0084	0.0085	0.0071	0.0098	0.0162	0.0080	0.0079	0.0137	0.0131	0.0013	0	0.0153	0.0089	0.0102	0.0200	0.0102	0.0087	0.0114	0.0162	0.095	0.54683	T	0.005	0.72224	D	1.0	0.90584	D	0.997	0.97372	D	.	.	.	.	0.999288	0.58761	D	.	.	.	-0.14	0.65006	T	-4.19	0.85844	D	0.188	0.76760	-0.4030	0.71932	T	0.249	0.61855	T	9	0.008319944	0.00189	T	.	.	.	0.459	0.75687	.	.	.	.	.	.	0.552916037637	0.52078	0.748514950275	0.74228	T	.	.	.	-0.158262	0.27029	T	0.0135168	0.71209	D	0.0142363712654734	0.00281	T	0.940956	0.82493	D	.	.	.	.	.	.	.	.	-8.108	0.61805	D	.	.	0.515	0.65265	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.006971	0.59081	24.1	0.95907815994375256	0.28150	0.98680	0.85501	D	AEFGBI	0.981315	0.99870	D	0.803908257609293	0.86349	8.857237	0.804679695527492	0.90117	10.26354	0.999999999999429	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.45	5.45	0.79688	7.669000	0.82880	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.254	0.93927	346	0.85643	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.09524	7570.92	151	chr2	178777862	.	C	G	7570.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.68;DP=1317;ExcessHet=0.6776;FS=1.104;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=-4.120e-01;SOR=0.576	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	17	0	4	0
chr2	178782806	178782806	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon17:c.G2962A:p.V988M	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	YES	.	.	.	.	.	.	.	1.0000	1.0	56075	Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified|Primary_dilated_cardiomyopathy|TTN-related_disorder|Limb-girdle_muscular_dystrophy,_recessive|not_provided|Cardiomyopathy|Cardiovascular_phenotype|Tip-toe_gait|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J	MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|.|MedGen:CN239352|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.991	D	0.873	P	.	.	1.000	D	0.975	L	0.14	T	-0.662	T	0.312	T	0.697	3.453	17.70	6.17	2.941	7.792	20.879	0.302	0.616460471336	0.0008	0.000399361	0.0010	0	0.0003	0	0.0021	0.0013	0	0.0007	0.0009379	145	154602	rs142951505	0.0010	0.0010	0.0011	0.0009	0.0011	0.0009	0.0009	0.0010	0.0010	5.983e-05	0.0003	0	0	0.0028	0.0002	0.0011	0.0005	0.0007	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0005	0.0008	0.0007	0.0002	0	0.0001	0	0	0.0013	0	0.0010	0.0005	0.0006	0.041	0.43708	D	0.004	0.74150	D	0.623	0.64070	P	0.525	0.61978	P	.	.	.	.	0.999426	0.51612	D	.	.	.	-0.15	0.65192	T	-1.94	0.52451	N	0.641	0.76019	-0.6625	0.62166	T	0.312	0.68246	T	8	0.046984285	0.03958	T	0.61646	0.96667	D	0.302	0.62290	.	.	0.463157528383	0.45941	.	.	0.188335590607	0.21163	0.490644305944	0.37528	T	.	.	.	-0.178515	0.23955	T	-0.0538277	0.66760	D	0.0447470746144121	0.04555	T	0.970803	0.91380	D	.	.	.	.	.	.	.	.	-7.556	0.58003	D	.	.	0.199	0.42259	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.960830	0.94191	33	0.96827669282607332	0.31252	0.98516	0.83613	D	AEFBI	0.968610	0.99106	D	0.563764598555896	0.70926	5.573547	0.680939127118159	0.80933	7.410401	0.999999999998151	0.74766	0.516011	0.20929	0	0.315538	0.05683	2	0.54472	0.12158	0	0.586402	0.36253	0	.	.	6.17	6.17	0.99707	7.879000	0.85694	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	20.879	0.99870	361	0.84870	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	941.98	35	chr2	178782806	.	C	T	941.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.08;DP=771;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.49;ReadPosRankSum=0.979;SOR=0.719	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1286	20	0	1	0
chr2	178795088	178795088	C	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_001256850:exon7:c.G1079C:p.R360T	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	0	1498	24	0	0	24	0.00794702	.	.	55752	Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_provided|not_specified|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Cardiovascular_phenotype|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiomyopathy	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.617	P	0.173	B	.	.	0.986	N	0.345	N	0.44	T	-1.012	T	0.084	T	0.56	2.015	12.69	4.37	1.622	1.067	6.433	0.205	.	0.0062	0.0119808	0.0062	0.0158	0.0023	0	0.0002	0.0024	0.0022	0.0242	0.0056015	866	154602	rs56128843	0.0029	0.0029	0.0024	0.0035	0.0222	0.0028	0.0028	0.0213	0.0210	0.0161	0.0017	0.0078	5.04e-05	5.63e-05	0.0045	0.0011	0.0043	0.0222	0.0061	0.0061	0.0058	0.0064	0.0253	0.0057	0.0056	0.0217	0.0203	0.0139	0	0.0042	0.0069	0	9.414e-05	0.0034	0.0018	0.0047	0.0253	0.202	0.40573	T	0.148	0.32675	T	0.049	0.39849	B	0.024	0.35463	B	.	.	.	.	0.991562	0.24656	N	.	.	.	0.05	0.61923	T	-2.16	0.55501	N	0.211	0.26111	-1.0117	0.26385	T	0.084	0.32872	T	9	0.0042310655	0.00085	T	.	.	.	0.205	0.49236	.	.	0.326074293725	0.32213	.	.	0.131694048728	0.14851	0.443247795105	0.31022	T	.	.	.	-0.358862	0.04195	T	-0.270672	0.47751	T	0.00485736865674171	0.00052	T	0.771723	0.42389	T	.	.	.	.	.	.	.	.	-3.089	0.12383	T	.	.	0.258	0.49285	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.871459	0.37970	20.6	0.87640978987418272	0.17374	0.93855	0.59386	D	AEFDBI	0.579134	0.58006	D	-0.140723798226333	0.35630	2.049057	0.0513447974566371	0.42138	2.543468	0.997183769758073	0.35354	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.566403	0.31848	0	.	.	6.16	4.37	0.51830	1.105000	0.30699	.	.	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.990000	0.65344	0.0:0.6524:0.1423:0.2053	6.433	0.21009	365	0.84644	.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4054.98	34	chr2	178795088	.	C	G	4054.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.260e+00;DP=982;ExcessHet=0.0000;FS=0.918;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.48;ReadPosRankSum=0.543;SOR=0.771	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1381	20	0	1	0
chr2	178800635	178800635	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_001256850:exon4:c.G343A:p.V115M	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	1274955	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Hypertrophic_cardiomyopathy_9|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0013412,MedGen:C1861065,OMIM:613765|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.982	D	.	.	1.000	D	2.93	M	-0.63	T	0.343	D	0.616	D	0.527	3.253	16.91	5.78	2.744	6.034	20.012	0.531	0.0341203383367	.	0.000399361	3.365e-05	0	8.658e-05	0	0	1.514e-05	0	0.0001	5.17e-05	8	154602	rs564777385	1.165e-05	1.163e-05	1.363e-05	9.647e-06	0.0001	7.1e-06	5.8e-06	4.369e-05	2.774e-05	0	0.0001	0	0	0	0	7.205e-06	3.317e-05	2.328e-05	3.284e-05	3.281e-05	2.57e-05	4.029e-05	0.0004	1.26e-05	7.98e-06	7.29e-05	3.029e-05	2.407e-05	0	0	0	0	0	0	2.94e-05	0	0.0004	0.046	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.97	0.75477	D	.	.	.	.	0.989775	0.51308	D	.	.	.	-0.63	0.72011	T	-1.8	0.51646	N	0.426	0.59648	0.343	0.88230	D	0.616	0.86418	D	9	0.42122623	0.56877	T	0.03412	0.55456	D	0.531	0.80247	0.801	0.92017	0.694597339098	0.69196	.	.	0.449917120305	0.44771	0.56867647171	0.48491	T	.	.	.	-0.120138	0.33102	T	-0.1553	0.58773	T	0.190660053846622	0.19883	T	0.986101	0.95681	D	.	.	.	.	.	.	.	.	-8.807	0.66446	D	.	.	0.856	0.80106	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.389234	0.67730	25.1	0.9736058935497619	0.33568	0.97517	0.75265	D	AEFDBIJ	0.880688	0.80750	D	0.88905842623044	0.91213	10.771	0.851432192717722	0.93098	11.82386	0.999999999999999	0.74766	0.55562	0.30534	0	0.546412	0.12157	0	0.68496	0.61776	0	0.586402	0.36253	0	.	.	5.78	5.78	0.91418	6.123000	0.71339	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.012	0.97458	364	0.84707	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	992.98	37	chr2	178800635	.	C	T	992.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=806;ExcessHet=0.0000;FS=7.352;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=0.057;SOR=0.240	GT:AD:DP:GQ:PL	0/1:53,41:94:99:1007,0,1272	20	0	1	0
chr2	178834397	178834397	C	T	exonic	CCDC141	.	nonsynonymous SNV	CCDC141:NM_173648:exon24:c.G4369A:p.V1457I,	.	.	427	1087	7	1	0	9	0.00412277	.	.	697193	not_provided|Hypogonadotropic_hypogonadism_7_with_or_without_anosmia	MedGen:C3661900|MONDO:MONDO:0007794,MedGen:C0342384,OMIM:146110,Orphanet:432	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.87	T	0.973	D	0.73	P	.	.	1.000	D	0.78	N	-0.34	T	-0.832	T	0.182	T	0.119	1.301	10.26	5.71	2.700	2.267	15.657	0.224	0.030820945119	.	0.00159744	0.0033	0.0026	0	0	0.0043	0.0086	0.0052	0.0001	0.0012936	200	154602	rs145610810	0.0067	0.0063	0.0067	0.0066	0.0077	0.0065	0.0065	0.0076	0.0075	0.0010	0.0024	0.0101	2.798e-05	0.0040	0.0049	0.0077	0.0051	0.0007	0.0048	0.0048	0.0053	0.0044	0.0081	0.0046	0.0044	0.0075	0.0073	0.0016	0.0099	0.0018	0.0115	0	0.0032	0.0068	0.0081	0.0024	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.976104	0.25394	N	.	.	.	.	.	.	.	.	.	.	.	-0.8320	0.53172	T	0.182	0.52950	T	9	0.007324159	0.00167	T	0.030821	0.53045	D	.	.	.	.	.	.	.	.	.	.	0.324079394341	0.14038	T	.	.	.	-0.4752	0.00790	T	-0.447406	0.27983	T	0.0473766286087493	0.05031	T	0.664534	0.27348	T	.	.	.	.	.	.	.	.	-2.234	0.04209	T	.	.	0.095	0.14888	B	.	.	3.077892	0.41394	21.3	0.78844022725712681	0.12477	0.83655	0.42758	D	AEFI	0.450286	0.50475	N	0.251656559044796	0.53721	3.539776	0.335219438986826	0.57623	3.928595	0.99953582967514	0.40238	0.638212	0.43195	0	0.670034	0.63936	0	0.565031	0.19037	0	0.613276	0.41899	0	.	.	5.71	5.71	0.89031	2.330000	0.43544	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.0:0.8247:0.1753:0.0	15.657	0.76905	368	0.84463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1397.98	36	chr2	178834397	.	C	T	1397.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.18;DP=823;ExcessHet=0.0000;FS=20.458;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=-1.966e+00;SOR=2.022	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1230	20	0	1	0
chr2	178850085	178850085	T	-	exonic	CCDC141	.	frameshift deletion	CCDC141:NM_173648:exon21:c.3321delA:p.L1107Ffs*12,	.	.	431	1090	1	0	0	1	0.000458505	.	.	2879935	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0003	9.639e-05	0.0002	0	0	0.0001	0.0011	0.0017	0.0002523	39	154602	rs766744078	0.0002	0.0002	0.0001	0.0002	0.0016	0.0001	0.0001	0.0013	0.0013	0	0.0001	0	0	0	0.0002	6.314e-05	0.0001	0.0016	0.0002	0.0002	0.0002	0.0001	0.0010	0.0001	8.708e-05	0.0004	0.0003	7.213e-05	0	0.0005	0	0	0	0	0.0001	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1051.94	34	chr2	178850084	.	AT	A	1051.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.87;DP=774;ExcessHet=0.0000;FS=0.817;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.09;ReadPosRankSum=-5.290e-01;SOR=0.799	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1165	20	0	1	0
chr2	181493408	181493408	A	G	exonic	ITGA4	.	nonsynonymous SNV	ITGA4:NM_000885:exon11:c.A1237G:p.T413A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.0	B	0.001	B	0.160	N	1.000	N	1.15	L	0.55	T	-0.998	T	0.080	T	0.098	-0.307	2.537	-4.13	-0.553	-0.636	8.186	0.030	0.0125073645802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.071e-06	2.736e-06	0	4.158e-06	3.016e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	3.016e-05	0	0	0	0	0	1.817e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.19854	T	0.876	0.04636	T	0.0	0.02946	B	0.001	0.04355	B	0.159978	0.17694	N	0.646588	1	0.08975	N	0.49	0.13296	N	0.55	0.54728	T	-0.62	0.25118	N	0.081	0.05670	-0.9976	0.30590	T	0.080	0.31765	T	10	0.056267917	0.06281	T	0.012507	0.31146	T	0.030	0.07022	0.178	0.08503	0.669547798661	0.66676	0.3793797707855381	0.37852	0.502331297958	0.48594	0.229748874903	0.01949	T	0.243526	0.61247	T	-0.284423	0.10204	T	-0.64633	0.09214	T	0.0927875116467476	0.11545	T	0.537746	0.21167	T	0.03923722	0.05378	0.026750963	0.00782	0.03923722	0.05378	0.026750963	0.00782	-3.55	0.17139	T	.	.	0.061	0.02399	B	.;.	.;.	-0.309460	0.02575	0.315	0.46922451448991614	0.03796	0.03321	0.08390	N	AEFBI	0.049043	0.08432	N	-1.51269500383643	0.01766	0.0773408	-1.54958217610963	0.01979	0.09038257	0.028798189858735	0.13851	0.732398	0.92422	0	0.743671	0.97443	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.83	-4.13	0.03639	-0.729000	0.05024	-0.111000	0.11829	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.140000	0.19946	0.6057:0.0:0.2505:0.1438	8.186	0.30502	852	0.35056	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	856.98	35	chr2	181493408	.	A	G	856.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.99;DP=788;ExcessHet=0.0000;FS=0.877;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.13;ReadPosRankSum=0.597;SOR=0.846	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1213	20	0	1	0
chr2	181656875	181656875	C	G	exonic	CERKL	.	nonsynonymous SNV	CERKL:NM_001030311:exon1:c.G132C:p.E44D	Retinitis pigmentosa 26	.	.	.	.	.	.	.	.	.	.	177580	not_provided|Retinitis_pigmentosa	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.34	T	0.447	B	0.205	B	0.148	N	1.000	N	0	N	2.33	T	-1.046	T	0.041	T	0.112	1.813	12.02	2.6	0.498	1.008	6.722	0.003	0.0300753105656	.	.	0.0006	0	0	0	0	4.842e-05	0.0048	0.0039	0.0004657	72	154602	rs727503857	0.0002	0.0002	0.0001	0.0003	0.0026	0.0002	0.0002	0.0023	0.0022	0	0	0	0	1.9e-05	0.0002	3.704e-05	0.0003	0.0026	4.599e-05	4.596e-05	3.853e-05	5.379e-05	0.0014	2.109e-05	1.527e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	0.161	0.48642	T	0.715	0.05747	T	0.001	0.36006	B	0.006	0.37080	B	0.148145	0.18058	N	0.499369	0.999678	0.20721	N	0.55	0.14455	N	2.08	0.35775	T	-0.88	0.28084	N	0.178	0.19190	-1.0458	0.15592	T	0.041	0.17573	T	10	0.00588274	0.00132	T	0.030075	0.52463	D	0.003	0.00094	0.219	0.14078	0.548103985532	0.54466	0.3804357887923224	0.37958	0.0844159057736	0.09537	0.692180514336	0.66019	T	0.005728	0.05178	T	-0.58015	0.00192	T	-0.6098	0.12001	T	0.027881666029879	0.01671	T	0.59544	0.22079	T	0.06708676	0.14496	0.064091556	0.12796	0.073752195	0.16502	0.07078257	0.15081	-4.137	0.33161	T	.	.	0.119	0.36712	B	.;.;.;.;.	.;.;.;.;.	1.442833	0.18626	13.84	0.96577734048986363	0.30322	0.62715	0.31866	D	AEFDGBHCI	0.152404	0.27707	N	-0.945894875845484	0.09785	0.4646528	-0.879869415583135	0.12572	0.6474393	0.999999931675374	0.74766	0.56387	0.32371	0	0.491552	0.07993	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.42	2.6	0.30173	1.122000	0.30909	0.481000	0.18806	-0.171000	0.11205	0.901000	0.31451	0.960000	0.29291	0.118000	0.19084	0.1747:0.7315:0.0:0.0938	6.722	0.22523	899	0.25060	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1897.98	37	chr2	181656875	.	C	G	1897.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.289e+00;DP=896;ExcessHet=0.0000;FS=0.723;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.74;ReadPosRankSum=1.48;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,102,1256	20	0	1	0
chr2	181678581	181678581	C	T	exonic	NEUROD1	.	nonsynonymous SNV	NEUROD1:NM_002500:exon2:c.G280A:p.A94T,	Maturity-onset diabetes of the young 6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.609	P	0.17	B	0.000	D	1.000	D	2.395	M	-3.83	D	0.764	D	0.839	D	0.612	5.043	29.9	6.16	2.937	7.766	19.424	0.514	0.185104618644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.033	0.53072	D	0.609	0.39586	P	0.17	0.35299	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.345	0.67358	M	-3.83	0.95794	D	-3.41	0.67129	D	0.482	0.51672	0.764	0.93967	D	0.839	0.94617	D	10	0.38633454	0.54568	T	0.185105	0.85791	D	0.514	0.79217	0.212	0.13066	0.973489430895	0.97320	0.29720361518298416	0.29633	0.492894575392	0.47914	0.768705010414	0.77230	T	0.778333	0.94125	D	0.243896	0.78027	D	0.112563	0.77741	D	0.981200635433197	0.73779	D	0.718228	0.33111	T	0.4986552	0.67017	0.56728184	0.74951	0.4986552	0.67017	0.56728184	0.74952	-9.882	0.73202	D	0.40084497278937786	0.49267	0.905	0.83126	P	.	.	4.524390	0.70963	25.6	0.99916718950499361	0.98449	0.02369	0.06743	N	AEFBHCI	0.962693	0.98437	D	0.568276493917839	0.71201	5.615123	0.671606235025357	0.80229	7.252605	0.999999999999839	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	6.16	6.16	0.99302	7.852000	0.85247	7.698000	0.66136	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.424	0.94724	854	0.34840	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02632	75.78	34	chr2	181678581	.	C	T	75.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.521e+00;DP=1421;ExcessHet=0.0000;FS=301.863;InbreedingCoeff=-0.0552;MLEAC=1;MLEAF=0.026;MQ=60.00;MQRankSum=0.00;QD=0.70;ReadPosRankSum=0.363;SOR=8.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,20:109:89:0|1:181678581_C_T:89,0,2872:181678581	18	0	1	2
chr2	181678582	181678582	C	G	exonic	NEUROD1	.	nonsynonymous SNV	NEUROD1:NM_002500:exon2:c.G279C:p.K93N,	Maturity-onset diabetes of the young 6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.992	D	0.917	D	0.000	D	1.000	D	2.375	M	-3.89	D	0.970	D	0.899	D	0.103	4.404	23.3	5.28	1.600	1.348	9.838	0.582	0.26666140162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.008	0.67890	D	0.992	0.64738	D	0.917	0.65306	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.36	0.67893	M	-3.89	0.95984	D	-3.93	0.73267	D	0.133	0.12913	0.970	0.96706	D	0.899	0.96635	D	10	0.46495566	0.59513	T	0.266661	0.89719	D	0.582	0.83193	0.204	0.11936	0.981752576465	0.98155	0.3507142746384394	0.34985	1.39719179774	0.85110	0.736429929733	0.72447	T	0.82509	0.95764	D	0.0536061	0.58806	T	-0.160775	0.58282	T	0.984899401664734	0.76055	D	0.852015	0.53695	D	0.75474715	0.81145	0.70367765	0.82535	0.75474715	0.81146	0.70367765	0.82536	-11.457	0.82105	D	0.5535140685958624	0.62186	0.985	0.92305	P	.	.	5.011938	0.83234	28.0	0.99857391532379614	0.93639	0.00500	0.02358	N	AEFBHCI	0.756727	0.69590	D	0.604673102786654	0.73471	5.971292	0.580451642377621	0.73538	5.987081	0.999966982596455	0.48965	0.59774	0.34471	0	0.563428	0.19063	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	6.16	5.28	0.74118	1.359000	0.33717	5.999000	0.52457	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.7863:0.1412:0.0725	9.838	0.40151	854	0.34840	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03571	78.33	88	chr2	181678582	.	C	G	78.33	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-3.803e+00;DP=1532;ExcessHet=0.0000;FS=302.218;InbreedingCoeff=-0.1306;MLEAC=1;MLEAF=0.036;MQ=60.00;MQRankSum=0.00;QD=0.72;ReadPosRankSum=0.478;SOR=8.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,20:109:89:0|1:181678581_C_T:89,0,2872:181678581	13	0	1	7
chr2	181678605	181678605	G	A	exonic	NEUROD1	.	nonsynonymous SNV	NEUROD1:NM_002500:exon2:c.C256T:p.P86S,	Maturity-onset diabetes of the young 6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.999	D	0.992	D	0.000	D	1.000	D	2.455	M	-3.83	D	0.900	D	0.920	D	0.544	5.153	32	6.16	2.937	9.804	19.424	0.571	0.23621219823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.29688	T	0.03	0.54159	D	0.999	0.77913	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.41	0.69639	M	-3.83	0.95794	D	-6.54	0.91786	D	0.445	0.48319	0.900	0.95672	D	0.920	0.97355	D	10	0.63345855	0.68648	D	0.236212	0.88489	D	0.571	0.82573	0.235	0.16457	0.990118346493	0.99000	0.24592295442231019	0.24506	1.34341880559	0.83908	0.798762917519	0.81775	T	0.858354	0.96835	D	0.221899	0.75956	D	0.0809657	0.75644	D	0.995564997196198	0.87656	D	0.859414	0.55137	D	0.46375233	0.64904	0.6766599	0.81011	0.46375233	0.64905	0.6766599	0.81012	-13.685	0.91988	D	0.4755013963890582	0.55515	0.997	0.96595	P	.	.	5.357455	0.89851	31	0.9993409283731095	0.99535	0.01845	0.05712	N	AEFBHCI	0.960118	0.98077	D	0.932416457991249	0.93255	11.91997	0.93804378764165	0.97027	15.48257	0.999999999999839	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	6.16	6.16	0.99302	10.003000	0.99689	11.876000	0.98705	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	19.424	0.94724	854	0.34840	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1446.98	90	chr2	181678605	.	G	A	1446.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.10;DP=1484;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.64;ReadPosRankSum=-9.800e-01;SOR=0.727	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,102,1530	20	0	1	0
chr2	181892272	181892272	G	C	exonic	ITPRID2	.	nonsynonymous SNV	ITPRID2:NM_001130445:exon1:c.G206C:p.G69A	.	.	393	1126	3	0	0	3	0.00133038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.663	P	0.196	B	0.414	N	1.000	D	1.79	L	2.83	T	-1.031	T	0.026	T	0.099	2.483	14.26	2.11	0.805	0.726	4.079	0.047	0.0568155563535	.	0.000399361	0.0021	0	0	0	0	0	0	0.0040	0.0002135	33	154602	rs560220325	0.0003	0.0003	0.0002	0.0004	0.0047	0.0003	0.0003	0.0043	0.0041	0	0	0	0	0	0.0002	1.114e-05	0.0002	0.0047	8.539e-05	8.53e-05	5.14e-05	0.0001	0.0025	4.955e-05	3.961e-05	0.0014	0.0011	0	0	0	0	0.0002	0	0	0	0	0.0025	0.163	0.23450	T	0.238	0.24767	T	0.663	0.40973	P	0.196	0.36635	B	0.414121	0.12957	N	0.692755	1	0.81001	D	.	.	.	2.83	0.13204	T	-0.17	0.09796	N	0.108	0.11197	-1.0306	0.20260	T	0.026	0.11043	T	10	0.007245511	0.00165	T	0.056816	0.66741	D	0.047	0.12962	0.103	0.01643	0.426670027402	0.42282	0.0756108011511373	0.07497	1.52796361028	0.87540	0.623684227467	0.56250	T	0.025721	0.19174	T	-0.640299	0.00083	T	-0.692666	0.06236	T	0.0360905806633666	0.02997	T	0.914409	0.69449	D	0.04288994	0.06586	0.05019299	0.07829	0.04288994	0.06586	0.05019299	0.07828	-3.61	0.18002	T	.	.	0.090	0.13690	B	.;.;.	.;.;.	1.379699	0.17910	13.44	0.95552257662969331	0.27216	0.82519	0.41735	D	ALL	0.157269	0.28275	N	-0.219300140651063	0.32343	1.822946	-0.197516462127553	0.31627	1.791701	0.999999999997866	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.56214	0.19341	0	.	.	4.3	2.11	0.26299	0.468000	0.21763	1.267000	0.25267	-0.174000	0.10959	0.787000	0.29557	0.692000	0.26181	0.051000	0.15275	0.4436:0.0:0.5564:0.0	4.079	0.09394	680	0.59965	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	651.98	34	chr2	181892272	.	G	C	651.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.04;DP=750;ExcessHet=0.0000;FS=2.137;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.19;ReadPosRankSum=1.62;SOR=0.694	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1119	20	0	1	0
chr2	182728977	182728977	A	G	exonic	DNAJC10	.	nonsynonymous SNV	DNAJC10:NM_001271581:exon7:c.A616G:p.I206V	.	.	429	1092	1	0	0	1	0.000457666	.	.	2240063	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.44	T	0.01	B	0.035	B	0.000	D	0.692	D	0.615	N	3.91	T	-0.959	T	0.008	T	0.199	1.263	10.12	4.87	1.087	2.788	6.449	0.072	0.00514569097495	7.7e-05	.	0.0001	9.615e-05	0	0	0	0.0002	0	0	0.0001164	18	154602	rs376885680	0.0001	0.0001	0.0001	0.0001	0.0102	0.0001	9.834e-05	0.0081	0.0074	8.962e-05	0.0002	0.0005	0	0	0.0102	6.475e-05	0.0002	4.638e-05	0.0002	0.0002	0.0002	0.0001	0.0005	0.0001	9.698e-05	0.0003	0.0002	0.0001	0	0.0005	0	0	0	0.0068	0.0001	0.0005	0	0.318	0.15303	T	0.411	0.19972	T	0.004	0.15535	B	0.01	0.22741	B	0.000162	0.48594	D	0.211857	0.692403	0.33340	D	0.98	0.24916	L	3.91	0.03489	T	-0.34	0.13418	N	0.105	0.08925	-0.9591	0.39349	T	0.008	0.02842	T	10	0.08538547	0.14408	T	0.005146	0.13063	T	0.072	0.21020	.	.	0.228597637076	0.22478	0.6028222275402897	0.60213	0.0596258916329	0.06628	0.434627592564	0.29842	T	0.005449	0.04901	T	-0.432716	0.01428	T	-0.574629	0.15027	T	0.095159038901329	0.11816	T	0.893211	0.63049	D	0.06733719	0.14573	0.041626606	0.04775	0.06733719	0.14572	0.041626606	0.04775	-3.68	0.19023	T	.	.	0.086	0.11749	B	.;.;.	.;.;.	1.426990	0.18448	13.74	0.97246852888165625	0.33024	0.88349	0.48236	D	AEFBI	0.334728	0.43340	N	-0.364629844015291	0.26737	1.46156	-0.177927335259863	0.32349	1.83959	0.813309760905239	0.24394	0.744818	0.98587	0	0.732433	0.95613	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.04	4.87	0.62877	2.803000	0.47620	9.008000	0.78544	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.815000	0.38403	0.7456:0.1559:0.0985:0.0	6.449	0.21096	532	0.73501	.;Thioredoxin domain|Thioredoxin domain|ERdj5, first thioredoxin domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1598.98	37	chr2	182728977	.	A	G	1598.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.034e+00;DP=880;ExcessHet=0.0000;FS=1.653;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.15;ReadPosRankSum=-6.450e-01;SOR=0.501	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,43:99:99:0|1:182728970_C_T:1613,0,2218:182728970	20	0	1	0
chr2	184937150	184937150	C	G	exonic	ZNF804A	.	nonsynonymous SNV	ZNF804A:NM_194250:exon4:c.C1754G:p.T585S,	.	.	432	1082	7	1	0	9	0.00414174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.024	B	0.005	B	0.005	N	1.000	N	0.895	L	3.46	T	-0.930	T	0.011	T	0.104	0.673	7.600	2.63	0.233	0.285	4.200	0.020	0.0022486078475	7.7e-05	0.000199681	0.0002	0	8.781e-05	0	0	0.0002	0	0.0005	0.0001746	27	154602	rs373736637	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0003	0.0002	0	0.0001	0	2.527e-05	0	0.0007	0.0001	0.0002	0.0004	7.231e-05	7.221e-05	7.716e-05	6.724e-05	0.0008	3.973e-05	3.129e-05	0.0003	0.0002	0	0	6.545e-05	0	0	0	0	8.825e-05	0	0.0008	0.227	0.18498	T	0.738	0.09425	T	0.024	0.19075	B	0.005	0.11217	B	0.004619	0.33568	N	0.210118	1	0.08975	N	2.33	0.66821	M	3.46	0.05249	T	-0.23	0.10656	N	0.071	0.04426	-0.9303	0.44095	T	0.011	0.04274	T	10	0.015689284	0.00329	T	0.002249	0.04287	T	0.020	0.03691	0.134	0.03833	0.043077524339	0.03247	0.0639701319482684	0.06336	0.0334174714276	0.03497	0.312005460262	0.12210	T	0.001972	0.06354	T	-0.52297	0.00423	T	-0.68157	0.06888	T	0.0419196830486211	0.04041	T	0.454055	0.13467	T	0.03717625	0.04717	0.044322427	0.05715	0.03717625	0.04716	0.044322427	0.05714	-2.756	0.07786	T	.	.	0.094	0.14614	B	.;.	.;.	0.865412	0.12382	8.917	0.87965321728069046	0.17614	0.05640	0.11551	N	AEFI	0.045505	0.07449	N	-0.854265832769596	0.11945	0.5793774	-0.765417446010792	0.15344	0.8065327	2.40740943943437E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.5	2.63	0.30420	0.817000	0.26938	-0.462000	0.09033	-0.176000	0.10722	0.876000	0.30908	0.000000	0.08366	0.969000	0.54022	0.1562:0.4669:0.2945:0.0824	4.200	0.09919	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	691.98	59	chr2	184937150	.	C	G	691.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=1168;ExcessHet=0.0000;FS=3.775;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.31;ReadPosRankSum=0.247;SOR=1.094	GT:AD:DP:GQ:PL	0/0:75,0:75:99:0,120,1800	20	0	1	0
chr2	184938548	184938548	T	G	exonic	ZNF804A	.	nonsynonymous SNV	ZNF804A:NM_194250:exon4:c.T3152G:p.V1051G,	.	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.483	P	0.115	B	0.121	N	1.000	D	1.39	L	3.31	T	-0.918	T	0.013	T	0.6	1.533	11.08	4.06	0.786	2.106	4.154	0.144	0.0186065364566	.	.	.	.	.	.	.	.	.	.	.	.	.	rs144826858	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.656e-05	0	6.578e-06	6.569e-06	0	1.347e-05	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	0.169	0.22920	T	0.037	0.51737	D	0.483	0.36807	P	0.115	0.31843	B	0.121294	0.19002	N	0.368860	0.999825	0.49512	D	1.905	0.50856	L	3.31	0.06291	T	-0.92	0.24676	N	0.394	0.43514	-0.9182	0.45797	T	0.013	0.05081	T	10	0.12367481	0.23480	T	0.018607	0.40730	T	0.144	0.38394	0.372	0.38340	0.102598925029	0.09809	0.3900209383070601	0.38917	0.286153503547	0.31018	0.403704255819	0.25584	T	0.015349	0.23270	T	-0.128436	0.31748	T	-0.422266	0.30815	T	0.837853133678436	0.49153	D	0.556544	0.20130	T	0.091678314	0.21488	0.06231783	0.12173	0.091678314	0.21488	0.06231783	0.12173	-3.82	0.21104	T	.	.	0.197	0.41918	B	.;.	.;.	3.099726	0.41772	21.4	0.99135140860300608	0.53383	0.90643	0.51990	D	AEFBI	0.290885	0.40215	N	-0.164115471305822	0.34635	1.97939	-0.0624986929747346	0.36955	2.157332	1.51623897331456E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.09	4.06	0.46572	1.856000	0.39028	4.166000	0.42242	0.609000	0.47794	0.956000	0.33378	1.000000	0.68203	0.978000	0.57271	0.0:0.3906:0.0:0.6094	4.154	0.09716	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2467.98	107	chr2	184938548	.	T	G	2467.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.62;DP=1664;ExcessHet=0.0000;FS=10.134;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.10;ReadPosRankSum=2.27;SOR=0.732	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1396	20	0	1	0
chr2	185756269	185756269	G	C	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon9:c.G1069C:p.E357Q,	.	.	.	.	.	.	.	.	.	.	.	3190682	FSIP2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.34	T	0.246	B	0.055	B	0.344	N	1.000	N	0.345	N	0.9	T	-1.054	T	0.039	T	0.135	0.102	4.548	2.84	0.686	2.304	7.252	0.019	.	.	0.00139776	0.0030	0	0	0.0051	0.0111	0.0048	0.0127	0.0005	0.0003687	57	154602	rs181232065	0.0008	0.0007	0.0008	0.0008	0.0057	0.0008	0.0007	0.0051	0.0048	0.0003	3.823e-05	0.0085	0.0057	0.0040	0.0002	0.0004	0.0010	0.0003	0.0011	0.0011	0.0010	0.0012	0.0062	0.0010	0.0009	0.0045	0.0040	7.236e-05	0	0.0003	0.0078	0.0062	0.0043	0	0.0007	0.0019	0.0012	0.279	0.15561	T	0.555	0.09267	T	0.246	0.31102	B	0.055	0.25995	B	0.344257	0.13915	N	0.595915	1	0.08975	N	0.345	0.11182	N	0.9	0.45248	T	-0.27	0.11366	N	0.073	0.04668	-1.0539	0.13332	T	0.039	0.16634	T	10	0.003462553	0.00061	T	.	.	.	0.019	0.03383	.	.	0.149567049428	0.14543	0.07072985078010019	0.07009	.	.	0.376547992229	0.21766	T	0.002209	0.01614	T	-0.594928	0.00156	T	-0.626534	0.10678	T	0.00604818090802291	0.00067	T	0.372463	0.08834	T	0.048514478	0.08469	0.03764875	0.03462	0.048514478	0.08469	0.03764875	0.03462	-3.361	0.14537	T	.	.	0.115	0.22969	B	.	.	1.808964	0.22987	15.84	0.17004383082446373	0.00478	0.14984	0.18686	N	AEFI	0.057288	0.10659	N	-0.931206126854234	0.10118	0.481997	-0.926011202951997	0.11482	0.5851584	6.39194950545457E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.64	2.84	0.32241	2.656000	0.46380	4.072000	0.41672	-0.119000	0.14319	0.315000	0.25459	1.000000	0.68203	0.002000	0.04165	0.2025:0.0:0.7975:0.0	7.252	0.25331	751	0.51694	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	323.98	33	chr2	185756269	.	G	C	323.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.869;DP=665;ExcessHet=0.0000;FS=1.226;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.90;ReadPosRankSum=-1.273e+00;SOR=0.929	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1143	20	0	1	0
chr2	185793362	185793362	C	A	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon16:c.C6226A:p.L2076M,	.	.	434	1070	16	2	0	20	0.00925926	.	.	1687429	FSIP2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.14	T	.	.	.	.	.	.	1.000	N	1.1	L	0.48	T	-0.951	T	0.079	T	0.227	-1.048	0.198	-5.16	-0.959	-0.870	5.545	0.059	.	.	0.00199681	0.0028	0	0.0112	0	0	0.0042	0	0.0028	0.0009056	140	154602	rs74508015	0.0034	0.0032	0.0034	0.0034	0.0074	0.0033	0.0033	0.0056	0.0050	0.0009	0.0043	0.0016	0	0.0004	0.0074	0.0037	0.0037	0.0028	0.0025	0.0025	0.0025	0.0025	0.0051	0.0023	0.0022	0.0042	0.0039	0.0008	0	0.0051	0.0029	0	9.432e-05	0.0034	0.0034	0.0033	0.0037	0.121	0.27783	T	0.239	0.24477	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.995	0.54099	M	0.48	0.55945	T	-1.65	0.39503	N	0.148	0.15046	-0.9514	0.40730	T	0.079	0.31314	T	7	0.0031307042	0.00052	T	.	.	.	0.059	0.16972	.	.	0.0551355673512	0.04727	0.18340032344854906	0.18259	.	.	0.413440704346	0.26933	T	0.021052	0.16461	T	-0.526687	0.00402	T	-0.527821	0.19504	T	0.0039843693877239	0.00042	T	0.353365	0.07952	T	0.097489156	0.22980	0.08456565	0.19463	0.097489156	0.22980	0.08456565	0.19463	-4.612	0.32322	T	.	.	0.146	0.32226	B	.	.	0.534934	0.09034	5.818	0.48869473577148037	0.04114	0.01949	0.05925	N	AEFGI	.	.	.	-1.08090158306797	0.06995	0.3236674	-1.25550028775307	0.05050	0.2397123	0.935778222168531	0.27227	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.45	-5.16	0.02640	-0.868000	0.04345	-1.055000	0.06470	-0.173000	0.11020	0.020000	0.19661	0.000000	0.08366	0.245000	0.23132	0.2489:0.2406:0.0:0.5105	5.545	0.16348	776	0.48302	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2482.98	146	chr2	185793362	.	C	A	2482.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.061e+00;DP=2395;ExcessHet=0.0000;FS=1.212;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.05;ReadPosRankSum=-1.733e+00;SOR=0.807	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr2	185796083	185796083	G	A	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon16:c.G8947A:p.G2983S,	.	.	436	1070	16	0	0	16	0.00742115	.	.	707890	FSIP2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.76	T	.	.	.	.	0.956	N	1.000	N	0	N	1.12	T	-1.013	T	0.046	T	0.461	-2.054	0.006	-1.84	-0.442	-0.236	10.689	0.098	0.0145428648513	.	0.00179712	0.0032	0	0	0	0	0.0073	0.0051	0.0018	0.0008797	136	154602	rs142675481	0.0034	0.0032	0.0034	0.0034	0.0193	0.0033	0.0033	0.0163	0.0152	0.0009	0.0026	0.0144	0	0.0008	0.0193	0.0034	0.0037	0.0019	0.0026	0.0026	0.0026	0.0027	0.0036	0.0024	0.0023	0.0032	0.0031	0.0006	0	0.0028	0.0168	0	0.0006	0.0034	0.0036	0.0048	0.0025	0.841	0.02803	T	0.921	0.02864	T	.	.	.	.	.	.	0.956254	0.07688	N	1.019820	1	0.08975	N	1.35	0.33515	L	1.12	0.38718	T	-1.78	0.42001	N	0.118	0.10769	-1.0130	0.25975	T	0.046	0.19879	T	8	0.005519718	0.00122	T	0.014543	0.34724	T	0.098	0.28162	.	.	0.0138822411134	0.00435	0.07517808770623123	0.07453	.	.	0.248386114836	0.03599	T	0.052191	0.29091	T	-0.495159	0.00609	T	-0.484182	0.24004	T	0.00956093055494588	0.00124	T	0.570043	0.20293	T	0.030915478	0.02837	0.07118786	0.15215	0.030915478	0.02837	0.07118786	0.15214	-1.606	0.01996	T	.	.	0.088	0.11558	B	.	.	-0.145085	0.03381	0.606	0.40151901440451598	0.02816	0.02581	0.07133	N	AEFHCI	0.044896	0.07278	N	-1.45980862271822	0.02140	0.09420565	-1.52082405954698	0.02184	0.1000747	2.98581108424224E-6	0.01202	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.36	-1.84	0.07387	-0.054000	0.11783	1.375000	0.25987	-0.728000	0.03745	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5665:0.0:0.4335:0.0	10.689	0.45058	756	0.51065	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2062.98	104	chr2	185796083	.	G	A	2062.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.732;DP=2060;ExcessHet=0.0000;FS=3.876;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.33;ReadPosRankSum=-1.620e-01;SOR=0.560	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr2	185796672	185796672	A	G	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon16:c.A9536G:p.N3179S,	.	.	430	1073	17	2	0	21	0.00969082	.	.	1687430	FSIP2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.3	T	.	.	.	.	0.829	N	1.000	N	1.32	L	1.03	T	-0.987	T	0.063	T	0.046	-0.546	1.524	-1.49	-0.128	-0.333	4.235	0.014	.	.	0.00199681	0.0029	0.0020	0.0119	0	0	0.0042	0	0.0029	0.0008926	138	154602	rs115715789	0.0034	0.0032	0.0034	0.0034	0.0074	0.0033	0.0033	0.0056	0.0050	0.0009	0.0043	0.0016	0	0.0004	0.0074	0.0037	0.0038	0.0028	0.0025	0.0025	0.0025	0.0025	0.0051	0.0023	0.0022	0.0042	0.0039	0.0008	0	0.0051	0.0029	0	9.413e-05	0.0034	0.0034	0.0033	0.0037	0.199	0.20456	T	0.218	0.26066	T	.	.	.	.	.	.	0.829118	0.06931	N	1.082370	1	0.08975	N	0.895	0.22405	L	1.03	0.40469	T	-2.93	0.61284	D	0.065	0.03726	-0.9869	0.33371	T	0.063	0.26172	T	8	0.0058558285	0.00131	T	.	.	.	0.014	0.01968	.	.	0.193865811164	0.18958	0.045826766500790886	0.04526	.	.	0.282062858343	0.07781	T	0.055709	0.30084	T	-0.679033	0.00049	T	-0.746656	0.03617	T	0.0160065823900935	0.00381	T	0.536546	0.18022	T	0.052159347	0.09688	0.054647636	0.09440	0.052159347	0.09688	0.054647636	0.09439	-2.112	0.03636	T	.	.	0.075	0.05623	B	.	.	-0.471518	0.01961	0.169	0.56456352124545495	0.05556	0.01355	0.04643	N	AEGI	0.038273	0.05391	N	-0.70671662489243	0.15832	0.8014227	-0.86082285758428	0.13027	0.6735502	9.1754588928357E-6	0.01202	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.32	-1.49	0.08259	-0.591000	0.05848	1.097000	0.24034	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.4525:0.0:0.3836:0.1638	4.235	0.10074	750	0.51762	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2683.98	104	chr2	185796672	.	A	G	2683.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.179e+00;DP=2179;ExcessHet=0.0000;FS=9.091;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=-1.090e+00;SOR=0.807	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr2	185802721	185802721	T	C	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon17:c.T13415C:p.M4472T,	.	.	431	1088	2	1	0	4	0.00183486	.	.	2757823	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	.	.	.	.	.	.	0.945	N	0.55	N	0.63	T	-0.959	T	0.111	T	0.696	1.195	9.855	5.27	2.213	3.882	11.496	0.197	0.0146979009124	.	0.000399361	8.85e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs568938611	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0	5.996e-05	0	0	0	0.0002	0.0002	0.0003	6.527e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	4.824e-05	0	0.0001	0	0	0	0	0.0003	0.0005	0	0.005	0.63226	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.945094	0.26671	N	2.39	0.68882	M	0.63	0.53088	T	-5.05	0.82700	D	0.643	0.65501	-0.9592	0.39330	T	0.111	0.39982	T	7	0.40932405	0.56114	T	0.014698	0.34987	T	0.197	0.47942	.	.	0.527098005314	0.52357	0.340552917499688	0.33968	.	.	0.537192940712	0.44050	T	0.103378	0.41198	T	-0.114127	0.34087	T	-0.165043	0.57895	T	0.42789763212204	0.29983	T	0.556944	0.19352	T	0.40312132	0.60948	0.6003498	0.76783	0.40312132	0.60949	0.6003498	0.76784	-2.903	0.09173	T	.	.	0.447	0.62048	A	.	.	2.418062	0.31091	18.64	0.84825980934672851	0.15520	0.76686	0.37630	D	AEFCI	.	.	.	0.197301160378569	0.51068	3.291212	0.298308462766671	0.55440	3.707085	0.0034320119670159	0.10114	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.27	5.27	0.73797	4.023000	0.56921	7.902000	0.73606	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:0.0:1.0	11.496	0.49655	731	0.54177	Fibrous sheath-interacting protein 2, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2665.98	108	chr2	185802721	.	T	C	2665.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.263e+00;DP=2041;ExcessHet=0.0000;FS=4.762;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.76;ReadPosRankSum=0.599;SOR=0.846	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1107	20	0	1	0
chr2	185804598	185804598	A	G	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon17:c.A15292G:p.I5098V,	.	.	435	1058	27	2	0	31	0.0144388	.	.	3210115	FSIP2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.73	T	.	.	.	.	.	.	1.000	N	-0.55	N	1.1	T	-0.996	T	0.026	T	0.022	-1.119	0.126	-3.6	-0.590	-0.143	12.856	0.011	.	.	0.00658946	0.0162	0	0.0053	0	0.0013	0.0026	0.0269	0.0287	0.0023221	359	154602	rs116029352	0.0052	0.0049	0.0044	0.0059	0.0277	0.0051	0.0050	0.0267	0.0263	0.0005	0.0023	0.0006	2.802e-05	0.0024	0.0070	0.0041	0.0050	0.0277	0.0037	0.0037	0.0034	0.0040	0.0301	0.0035	0.0034	0.0261	0.0246	0.0010	0	0.0013	0.0012	0.0002	0.0021	0.0136	0.0047	0.0043	0.0301	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.1	0.00987	N	1.1	0.39050	T	0.18	0.05035	N	0.012	0.00125	-0.9963	0.30946	T	0.026	0.11043	T	7	0.0035538077	0.00064	T	.	.	.	0.011	0.01250	.	.	.	.	0.030669484624268203	0.03015	.	.	0.262273460627	0.05164	T	0.001205	0.00701	T	-0.727779	0.00025	T	-0.797908	0.01955	T	0.00868098556356589	0.00107	T	0.328467	0.06836	T	0.020307582	0.00585	0.041548263	0.04748	0.020307582	0.00584	0.041548263	0.04748	-4.119	0.25569	T	.	.	0.068	0.02861	B	.	.	-1.214428	0.00516	0.012	0.39593560357966201	0.02741	0.00227	0.01275	N	AEFI	.	.	.	-1.67149918017404	0.00948	0.04105339	-1.71557173476285	0.01070	0.0480477	8.30265016546679E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.66	-3.6	0.04277	-0.099000	0.10976	-0.220000	0.10772	-1.500000	0.01031	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1283:0.1287:0.743:0.0	12.856	0.57271	735	0.53711	Fibrous sheath-interacting protein 2, C-terminal|Fibrous sheath-interacting protein 2, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1681.98	108	chr2	185804598	.	A	G	1681.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.016e+00;DP=1959;ExcessHet=0.0000;FS=0.625;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=-6.200e-01;SOR=0.589	GT:AD:DP:GQ:PL	0/0:99,0:99:99:0,120,1800	20	0	1	0
chr2	185808588	185808588	A	C	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon17:c.A19282C:p.N6428H,	.	.	439	1067	13	3	0	19	0.0088249	.	.	3196224	FSIP2-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.04	D	.	.	.	.	0.217	N	1.000	N	0.895	L	0.75	T	-0.996	T	0.060	T	0.23	0.663	7.553	-5.27	-1.184	-0.117	6.414	0.044	.	0.0014	0.00159744	0.0017	0.0004	0.0016	0	0.0002	0.0022	0.0056	0.0013	0.0016041	248	154602	rs190235420	0.0018	0.0018	0.0018	0.0019	0.0110	0.0018	0.0018	0.0088	0.0080	0.0010	0.0016	0	0	0.0001	0.0110	0.0020	0.0022	0.0013	0.0017	0.0017	0.0018	0.0016	0.0033	0.0015	0.0015	0.0026	0.0023	0.0005	0.0011	0.0033	0	0	0	0.0238	0.0025	0.0028	0.0004	0.005	0.63226	D	0.033	0.53072	D	.	.	.	.	.	.	0.217131	0.16225	N	0.581478	1	0.08975	N	0.69	0.16971	N	0.75	0.50192	T	-2.93	0.61284	D	0.246	0.48042	-0.9960	0.31028	T	0.060	0.25090	T	8	0.00658226	0.00149	T	.	.	.	0.044	0.11924	.	.	0.0551355673512	0.04727	0.27061002625502806	0.26974	.	.	0.335969865322	0.15834	T	0.04731	0.27685	T	-0.527436	0.00398	T	-0.535949	0.18696	T	0.0240061846028544	0.01146	T	0.559944	0.20130	T	0.17522682	0.38369	0.14437917	0.34279	0.17522682	0.38369	0.14437917	0.34278	-5.741	0.44057	T	.	.	0.115	0.22969	B	.;.	.;.	-0.529962	0.01773	0.135	0.91679306035603392	0.20970	0.02649	0.07255	N	AEFI	.	.	.	-1.01148027330222	0.08364	0.3919461	-1.19399222315645	0.06010	0.287996	4.20823125100431E-4	0.06899	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.22	-5.27	0.02551	-0.119000	0.10649	-0.285000	0.10238	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.3431:0.2636:0.3933:0.0	6.414	0.20908	756	0.51065	Fibrous sheath-interacting protein 2, C-terminal;Fibrous sheath-interacting protein 2, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1479.98	73	chr2	185808588	.	A	C	1479.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.966;DP=938;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.10;ReadPosRankSum=1.28;SOR=0.660	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr2	185809103	185809103	G	C	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon17:c.G19797C:p.K6599N,	.	.	428	1042	49	3	0	55	0.0257129	.	.	3199559	FSIP2-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	0.806	N	1.000	N	1.04	L	0.73	T	-0.982	T	0.068	T	0.093	3.021	16.08	-1.78	-0.324	-0.789	4.555	0.014	.	0.0073	0.00678914	0.0116	0.0016	0.0042	0.0002	0.0166	0.0124	0.0173	0.0272	0.0103815	1605	154602	rs116639972	0.0093	0.0092	0.0088	0.0098	0.0225	0.0092	0.0091	0.0216	0.0213	0.0013	0.0045	0.0046	5.079e-05	0.0181	0.0168	0.0087	0.0090	0.0225	0.0075	0.0075	0.0070	0.0081	0.0249	0.0072	0.0070	0.0212	0.0199	0.0015	0	0.0041	0.0063	0.0002	0.0138	0.0102	0.0105	0.0076	0.0249	0.023	0.48186	D	0.067	0.44302	T	.	.	.	.	.	.	0.806472	0.09284	N	0.911688	1	0.08975	N	1.845	0.48678	L	0.73	0.50721	T	-2.68	0.57275	D	0.129	0.12341	-0.9822	0.34491	T	0.068	0.27879	T	8	0.0036090612	0.00065	T	.	.	.	0.014	0.01968	.	.	.	.	0.0519133847101251	0.05133	.	.	0.26068842411	0.04973	T	0.05467	0.29791	T	-0.613095	0.00121	T	-0.635191	0.10024	T	0.022243021460658	0.00936	T	0.653235	0.26349	T	0.15171036	0.34474	0.12621611	0.30401	0.15171036	0.34474	0.12621611	0.30400	-3.901	0.22318	T	.	.	0.319	0.54463	B	.	.	0.746859	0.11166	7.803	0.99714873155108819	0.81633	0.03258	0.08289	N	AEFI	.	.	.	-0.588860956506698	0.19282	1.007925	-0.710675363931795	0.16695	0.884392	1.7529838628638E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.2	-1.78	0.07527	-0.771000	0.04805	-0.560000	0.08482	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.378000	0.26290	0.5388:0.0:0.3047:0.1566	4.555	0.11531	756	0.51065	Fibrous sheath-interacting protein 2, C-terminal	RP11-410E4.1	Brain_Hypothalamus	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1364.98	114	chr2	185809103	.	G	C	1364.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.529e+00;DP=918;ExcessHet=0.0000;FS=3.521;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=0.397;SOR=0.434	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr2	186504214	186504214	G	C	exonic	ZC3H15	.	nonsynonymous SNV	ZC3H15:NM_018471:exon6:c.G717C:p.E239D,	.	.	.	.	.	.	.	.	.	1.0000	0.966	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.935	P	0.411	B	0.000	D	1.000	D	3.3	M	1.06	T	-0.372	T	0.219	T	0.763	3.993	20.5	5.2	2.596	6.625	19.112	0.340	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.577e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.022	0.57587	D	0.935	0.52277	P	0.411	0.44827	B	0.000000	0.84330	D	0.046544	1	0.81001	D	3.38	0.91446	M	1.06	0.39781	T	-2.56	0.55339	D	0.807	0.80278	-0.3719	0.72903	T	0.219	0.58163	T	10	0.61418194	0.67612	D	0.057279	0.66910	D	0.340	0.66202	0.447	0.50629	0.176862962021	0.17281	0.8371508936038035	0.83675	1.25842597875	0.81969	0.810016155243	0.83495	D	0.52783	0.83605	D	0.134539	0.67800	D	-0.0445212	0.67395	D	0.981274902820587	0.73818	D	0.933007	0.74900	D	0.71572834	0.78924	0.6211325	0.77928	0.71572834	0.78926	0.6211325	0.77929	-8.983	0.67588	D	.	.	0.981	0.91303	P	.	.	6.609620	0.95479	35	0.9976274900218054	0.85172	0.98083	0.79454	D	ALL	0.857353	0.77471	D	0.686265938508068	0.78731	6.931324	0.660652857345304	0.79405	7.075772	1.0	0.98316	0.743674	0.98306	0	0.779548	0.99637	0	0.630245	0.45026	0	0.636	0.56748	0	.	.	5.2	5.2	0.71720	6.745000	0.74658	8.495000	0.77341	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	19.112	0.93305	410	0.82135	ZC3H15/TMA46 family, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03846	61.07	44	chr2	186504214	.	G	C	61.07	.	AC=1;AF=0.038;AN=26;BaseQRankSum=-1.222e+00;DP=977;ExcessHet=0.0000;FS=38.965;InbreedingCoeff=0.0602;MLEAC=2;MLEAF=0.077;MQ=60.00;MQRankSum=0.00;QD=1.02;ReadPosRankSum=1.91;SOR=4.994	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:45,0:45:0:.:.:0,0,464	12	0	1	8
chr2	186504215	186504215	G	A	splicing	ZC3H15	NM_018471:exon6:c.717+1G>A	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.482	17.82	5.01	2.497	9.756	18.684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59e-06	3.296e-05	1.582e-06	1.598e-06	1.463e-05	2.6e-07	1e-07	.	.	0	0	0	0	2.117e-05	0	0	0	1.463e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36496	0.87625	D	0.286463	0.87465	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.078213	0.96114	35	0.99490046545528399	0.67403	0.99024	0.90115	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1309.41	47	chr2	186504215	.	G	A,C	1309.41	.	AC=8,9;AF=0.235,0.265;AN=34;BaseQRankSum=1.04;DP=1083;ExcessHet=35.6159;FS=116.098;InbreedingCoeff=-0.7527;MLEAC=9,11;MLEAF=0.265,0.324;MQ=60.00;MQRankSum=0.00;QD=1.69;ReadPosRankSum=1.80;SOR=10.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:11,0,20:31:90:.:.:152,182,324,0,142,90	0	0	8	4
chr2	186504215	186504215	G	C	splicing	ZC3H15	NM_018471:exon6:c.717+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.361	17.33	5.01	2.497	9.756	18.684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0056	0.0007	0.0006	0.0009	0.0006	0.0006	0.0007	0.0007	0.0006	9.356e-05	0.0004	0.0002	0.0001	0.0009	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300962	0.83045	D	0.194535	0.82825	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.169298	0.96223	35	0.9948224112750832	0.66959	0.99140	0.91816	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1309.41	47	chr2	186504215	.	G	A,C	1309.41	.	AC=8,9;AF=0.235,0.265;AN=34;BaseQRankSum=1.04;DP=1083;ExcessHet=35.6159;FS=116.098;InbreedingCoeff=-0.7527;MLEAC=9,11;MLEAF=0.265,0.324;MQ=60.00;MQRankSum=0.00;QD=1.69;ReadPosRankSum=1.80;SOR=10.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:11,0,20:31:90:.:.:152,182,324,0,142,90	0	0	8	4
chr2	186504216	186504216	T	C	splicing	ZC3H15	NM_018471:exon6:c.717+2T>C	.	.	.	.	.	.	.	.	.	.	.	0.9885	0.632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.746	15.14	5.01	2.021	6.166	15.022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1247495080	0.0007	0.0072	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0008	2.875e-05	0.0003	0.0001	0.0002	0.0008	0.0009	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185856	0.72581	D	0.0291926	0.72226	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.148841	0.94671	34	0.99176868261411288	0.54556	0.94889	0.62681	D	ALL	.	.	.	0.983836673078108	0.95227	13.42256	0.81021516036993	0.90497	10.43329	0.999999999999597	0.74766	0.17398	0.03958	1	0.011162	0.00042	3	0.070486	0.01974	0	0.113624	0.03431	2	0.966	0.69059	5.01	5.01	0.66477	6.149000	0.71567	4.098000	0.41847	0.543000	0.25316	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:0.0:0.0:1.0	15.022	0.71298	410	0.82135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	84.46	42	chr2	186504216	.	T	C	84.46	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-1.728e+00;DP=959;ExcessHet=0.0000;FS=9.512;InbreedingCoeff=0.0457;MLEAC=1;MLEAF=0.033;MQ=60.00;MQRankSum=0.00;QD=1.92;ReadPosRankSum=1.70;SOR=2.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:36:.:.:0,36,925	14	0	1	6
chr2	189057318	189057318	A	C	splicing	COL5A2	NM_000393:exon34:c.2337+2T>G	.	.	Ehlers-Danlos syndrome, classic type, Autosomal dominant	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.006	20.5	5.92	2.267	9.339	16.359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.502e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.805e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.611489	0.92537	32	0.99483564550460934	0.67014	0.99218	0.92973	D	AEFBI	.	.	.	1.15119548577923	0.98974	20.10665	1.01036033718981	0.98817	19.48842	0.999999999925718	0.74766	0.163922	0.03765	0	0.084543	0.02171	0	0.078618	0.02440	0	0.24341	0.04801	0	0.979619	0.84361	5.92	5.92	0.95557	9.325000	0.96006	11.291000	0.92027	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.919000	0.45453	1.0:0.0:0.0:0.0	16.359	0.83084	836	0.38045	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	99.21	35	chr2	189057318	.	A	C	99.21	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-1.941e+00;DP=875;ExcessHet=0.1072;FS=37.987;InbreedingCoeff=-0.1070;MLEAC=2;MLEAF=0.059;MQ=60.00;MQRankSum=0.00;QD=1.42;ReadPosRankSum=2.20;SOR=5.413	GT:AD:DP:GQ:PL	0/0:52,0:52:14:0,14,1245	15	0	2	4
chr2	189689584	189689584	A	G	exonic	ANKAR	.	nonsynonymous SNV	ANKAR:NM_001378068:exon3:c.A659G:p.N220S	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.976	D	0.696	P	0.017	N	1.000	D	1.445	L	0.98	T	-0.892	T	0.158	T	0.108	4.087	21.0	5.97	2.288	6.389	15.443	0.091	0.00727903971566	.	.	8.294e-06	0	0	0	0	1.506e-05	0	0	6.5e-06	1	154602	rs112377488	2.055e-06	2.052e-06	2.726e-06	1.377e-06	0.0003	5.5e-07	1.5e-07	6.098e-05	2.523e-05	0	0	0	0	0	0.0003	0	0	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.27544	T	0.086	0.40909	T	0.976	0.58310	D	0.696	0.54017	P	0.017069	0.27816	N	0.306952	0.850962	0.81001	D	2.34	0.67151	M	0.98	0.42122	T	-1.04	0.27259	N	0.268	0.35832	-0.8919	0.48767	T	0.158	0.49161	T	10	0.32165623	0.49525	T	0.007279	0.19307	T	0.091	0.26358	0.18	0.08751	0.775158040763	0.77309	0.1706948227768393	0.16989	0.385166138058	0.39810	0.522253513336	0.41943	T	0.005499	0.04952	T	-0.201412	0.20602	T	-0.527091	0.19578	T	0.758101761341095	0.43743	D	0.792821	0.43457	T	0.105749264	0.25004	0.106745325	0.25686	0.105749264	0.25004	0.106745325	0.25685	-3.203	0.12517	T	.	.	0.116	0.23290	B	.;.	.;.	3.485834	0.48698	22.7	0.9983598733689536	0.91714	0.97211	0.73346	D	AEFBI	0.668881	0.63651	D	0.602524574240706	0.73333	5.949188	0.650561009726795	0.78652	6.919529	0.999992404130528	0.74766	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.97	5.97	0.96935	6.374000	0.73065	11.090000	0.85912	0.731000	0.85647	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	15.443	0.74935	777	0.48198	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1391.98	34	chr2	189689584	.	A	G	1391.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.60;DP=787;ExcessHet=0.0000;FS=0.763;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.38;ReadPosRankSum=0.660;SOR=0.865	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1270	20	0	1	0
chr2	189755360	189755360	G	A	exonic	OSGEPL1	.	nonsynonymous SNV	OSGEPL1:NM_001354347:exon3:c.C422T:p.P141L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	N	1.000	D	4.075	H	0.02	T	0.348	D	0.576	D	0.653	4.002	20.5	3.84	0.850	7.525	12.231	0.554	0.160897807632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.003	0.83351	D	1.0	0.90584	D	0.985	0.76457	D	0.000111	0.50451	N	0.211209	1	0.81001	D	4.58	0.99205	H	0.02	0.62318	T	-8.93	0.98199	D	0.82	0.81559	0.348	0.88311	D	0.576	0.84685	D	10	0.9762387	0.97403	D	0.160898	0.84080	D	0.554	0.81601	0.905	0.97985	0.718356697609	0.71587	0.8815923215796544	0.88127	0.372525074531	0.38744	0.64415115118	0.59153	T	0.425	0.77636	T	0.161286	0.70319	D	-0.00610093	0.69939	D	0.998869597911835	0.95407	D	0.922808	0.72135	D	0.8715906	0.88988	0.82523525	0.89876	0.8715906	0.88989	0.82523525	0.89876	-10.557	0.77465	D	.	.	0.271	0.58340	B	.;.;.;.;.	.;.;.;.;.	5.390742	0.90310	31	0.99787549105102302	0.87396	0.97477	0.75001	D	AEFBI	0.796791	0.72382	D	0.862927056466765	0.89831	10.13639	0.74369562077445	0.85686	8.655004	0.996752665707242	0.34982	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	3.84	0.43422	7.615000	0.82207	11.806000	0.96793	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1379:0.0:0.8621:0.0	12.231	0.53801	765	0.49814	Gcp-like domain|Gcp-like domain;.;Gcp-like domain|Gcp-like domain;Gcp-like domain|Gcp-like domain;Gcp-like domain|Gcp-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1981.98	38	chr2	189755360	.	G	A	1981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.050e+00;DP=909;ExcessHet=0.0000;FS=1.741;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.76;ReadPosRankSum=-7.320e-01;SOR=0.567	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1240	20	0	1	0
chr2	189805814	189805814	-	A	exonic	PMS1	.	frameshift insertion	PMS1:NM_001321049:exon4:c.478dupA:p.L164Vfs*4,	.	.	439	771	31	0	281	312	0.0197076	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2849.26	33	chr2	189805813	.	TA	TAA,T	2849.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-9.480e-01;DP=1006;ExcessHet=1.7912;FS=0.538;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=6.80;ReadPosRankSum=-3.040e-01;SOR=0.630	GT:AD:DP:GQ:PL	0/0:34,0,0:34:99:0,99,1166,99,1166,1166	15	0	5	0
chr2	190294620	190294620	T	C	exonic	HIBCH	.	nonsynonymous SNV	HIBCH:NM_014362:exon4:c.A230G:p.Q77R	3-hydroxyisobutryl-CoA hydrolase deficiency, Autosomal recessive	.	4	1517	1	0	0	1	0.000329489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.001	B	0.003	B	0.017	N	1.000	D	0.28	N	-0.32	T	-0.986	T	0.161	T	0.114	1.682	11.58	3.92	0.742	2.395	9.288	0.040	0.0123997720762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.19430	T	0.404	0.14818	T	0.001	0.07471	B	0.003	0.08700	B	0.017128	0.27801	N	0.419415	0.98105	0.39733	D	0.03	0.08032	N	-0.32	0.71068	T	-1.15	0.32185	N	0.208	0.23380	-0.9862	0.33542	T	0.161	0.49548	T	10	0.16028011	0.30093	T	0.012	0.30939	T	0.040	0.10527	0.372	0.38340	0.751349547757	0.74909	0.33778741835876647	0.33691	0.0349017754887	0.03680	0.319298118353	0.13314	T	0.264421	0.78474	T	-0.134663	0.30744	T	-0.431211	0.29798	T	0.309904128313065	0.25410	T	0.759024	0.38317	T	0.12610678	0.29546	0.10806757	0.26027	0.12610678	0.29546	0.10806757	0.26027	-5.234	0.39386	T	0.11547642510905427	0.10335	0.096	0.16582	B	.;.;.	.;.;.	2.550998	0.33015	19.22	0.97762895104451919	0.35819	0.88284	0.48142	D	AEFBI	0.362716	0.45187	N	-0.416230549547508	0.24900	1.347794	-0.225186236813305	0.30637	1.726689	0.00900199985644263	0.11780	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.11	3.92	0.44525	2.626000	0.46126	3.483000	0.38662	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0877:0.0:0.9123	9.288	0.36932	511	0.75131	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	674.98	35	chr2	190294620	.	T	C	674.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.940e-01;DP=853;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.67;ReadPosRankSum=1.23;SOR=0.631	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1106	20	0	1	0
chr2	190294624	190294624	C	T	exonic	HIBCH	.	nonsynonymous SNV	HIBCH:NM_014362:exon4:c.G226A:p.E76K	3-hydroxyisobutryl-CoA hydrolase deficiency, Autosomal recessive	.	5	1516	1	0	0	1	0.000329707	.	.	952868	Beta-hydroxyisobutyryl-CoA_deacylase_deficiency	MONDO:MONDO:0009603,MedGen:C0342738,OMIM:250620,Orphanet:88639	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.993	D	0.753	P	0.000	D	1.000	D	1.865	L	-0.36	T	-0.048	T	0.456	T	0.899	4.573	24.8	5.11	2.365	6.489	16.043	0.657	0.0987548746421	.	.	1.65e-05	0	0	0	0	3.001e-05	0	0	1.29e-05	2	154602	rs778434126	1.305e-05	1.71e-05	1.23e-05	1.38e-05	0.0022	8.34e-06	6.72e-06	0.0012	0.0010	2.999e-05	0	0	0	0	0.0022	5.416e-06	1.663e-05	0	1.314e-05	1.313e-05	2.572e-05	0	.	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	0	0.0005	0	0.083	0.43085	T	0.268	0.22494	T	0.98	0.65571	D	0.753	0.56122	P	0.000000	0.84330	D	0.047076	1	0.81001	D	1.44	0.36004	L	-0.36	0.73523	T	-2.95	0.63323	D	0.904	0.91047	-0.0475	0.81260	T	0.456	0.78802	T	10	0.79898924	0.79329	D	0.098755	0.76995	D	0.657	0.87135	0.506	0.60078	0.892757099709	0.89169	0.831023251482803	0.83061	0.205256797494	0.22944	0.535796582699	0.43852	T	0.521707	0.92004	D	0.247592	0.78374	D	0.22553	0.84451	D	0.935854852199554	0.60440	D	0.985868	0.95230	D	0.8859431	0.90162	0.6520371	0.79637	0.8859431	0.90163	0.6520371	0.79638	-9.802	0.72718	D	0.3163981401283377	0.41444	0.418	0.66138	A	.;.;.	.;.;.	4.225085	0.63937	24.6	0.99891492711594565	0.96513	0.97481	0.75027	D	AEFBI	0.809437	0.73295	D	0.602451348370505	0.73329	5.948426	0.602602220248434	0.75127	6.25619	0.998787008920485	0.37667	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.11	5.11	0.69188	6.876000	0.75358	5.945000	0.51547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	16.043	0.80498	511	0.75131	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	737.98	35	chr2	190294624	.	C	T	737.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.950e-01;DP=843;ExcessHet=0.0000;FS=1.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.11;ReadPosRankSum=1.34;SOR=0.509	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1106	20	0	1	0
chr2	190514570	190514570	G	A	exonic	NEMP2	.	nonsynonymous SNV	NEMP2:NM_001142645:exon7:c.C836T:p.S279F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.986	D	0.899	P	.	.	0.999	N	2.14	M	0.85	T	-0.750	T	0.268	T	0.659	2.953	15.84	5.38	2.799	2.942	13.586	0.253	0.0352690654981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.146e-07	6.84e-07	1.41e-06	0	9.268e-07	0	0	.	.	0	0	0	0	0	0	9.268e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.005	0.72224	D	0.986	0.61523	D	0.899	0.63802	P	.	.	.	.	0.99904	0.21681	N	.	.	.	0.85	0.47130	T	-3.21	0.64826	D	0.337	0.37820	-0.7501	0.57930	T	0.268	0.63971	T	9	0.6735402	0.70855	D	0.035269	0.56231	D	0.253	0.56294	0.751	0.88155	0.623338070356	0.62027	0.8483286219411192	0.84793	.	.	0.346449971199	0.17398	T	0.121214	0.44402	T	0.0200298	0.54385	T	-0.209005	0.53790	T	0.926267209356979	0.58845	D	0.806719	0.45571	T	0.19577897	0.41380	0.38257566	0.63241	0.19577897	0.41380	0.38257566	0.63241	-9.678	0.71962	D	.	.	0.764	0.75648	P	.	.	4.168045	0.62646	24.5	0.99788208396917366	0.87396	0.80244	0.39933	D	AEFBI	0.267013	0.38381	N	0.443324499255063	0.63824	4.623925	0.347561740837172	0.58360	4.006164	0.999977392399475	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	5.38	5.38	0.77279	3.159000	0.50430	9.481000	0.80883	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.550000	0.30174	0.0:0.1559:0.8441:0.0	13.586	0.61396	419	0.81524	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2341.98	38	chr2	190514570	.	G	A	2341.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=1006;ExcessHet=0.0000;FS=0.529;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=0.871;SOR=0.641	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr2	191387347	191387347	G	A	exonic	MYO1B	.	nonsynonymous SNV	MYO1B:NM_001130158:exon17:c.G1678A:p.A560T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.642	P	0.069	B	0.000	N	1.000	D	0.055	N	-0.55	T	-0.940	T	0.128	T	0.336	2.822	15.40	4.83	1.426	4.156	10.955	0.123	0.0128127972974	.	.	1.647e-05	0	0.0002	0	0	0	0	0	1.94e-05	3	154602	rs772734702	3.42e-06	3.42e-06	2.722e-06	4.125e-06	4.472e-05	1e-06	7.3e-07	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	8.993e-07	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.15561	T	0.571	0.10354	T	0.434	0.40458	B	0.065	0.27757	B	0.000000	0.84330	N	0.054168	0.999951	0.52396	D	-0.055	0.04927	N	-0.55	0.71068	T	-0.98	0.25986	N	0.214	0.23884	-0.9401	0.42600	T	0.128	0.43585	T	10	0.14885399	0.28182	T	0.012813	0.31705	T	0.123	0.34020	0.324	0.30549	0.27064940482	0.26676	0.3895010266719323	0.38865	0.861398433647	0.68981	0.63896715641	0.58417	T	0.259141	0.63038	T	-0.173183	0.24755	T	-0.310695	0.43583	T	0.839299857616425	0.49270	D	0.680232	0.29438	T	0.1052478	0.24882	0.0901335	0.21117	0.1052478	0.24882	0.0901335	0.21116	-2.942	0.09569	T	.	.	0.073	0.06617	B	.;.;.;.	.;.;.;.	2.716308	0.35516	19.92	0.9774615289610189	0.35714	0.87491	0.47048	D	AEFDGBCIJ	0.792483	0.72077	D	-0.216433416837603	0.32459	1.830801	-0.0290958905044693	0.38407	2.26232	0.999999998382738	0.74766	0.75658	0.98901	0	0.588015	0.36545	0	0.724815	0.87919	0	0.656636	0.63459	0	.	.	5.7	4.83	0.61880	4.938000	0.63220	2.198000	0.31263	-0.135000	0.12811	1.000000	0.71638	0.992000	0.31684	0.992000	0.67800	0.1426:0.0:0.8574:0.0	10.955	0.46564	472	0.77968	.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1090.98	37	chr2	191387347	.	G	A	1090.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=836;ExcessHet=0.0000;FS=5.740;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.87;ReadPosRankSum=0.174;SOR=0.921	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr2	195680089	195680089	C	T	exonic	SLC39A10	.	nonsynonymous SNV	SLC39A10:NM_001127257:exon2:c.C47T:p.T16I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.912	P	0.476	P	0.000	D	1.000	D	1.905	M	1.29	T	-0.918	T	0.116	T	0.691	3.676	18.68	4.01	1.268	6.945	13.179	0.265	0.0329731284749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.912	0.50421	P	0.476	0.46961	P	0.000238	0.47286	D	0.182655	0.999974	0.81001	D	2.095	0.58118	M	1.29	0.35775	T	-2.46	0.89534	N	0.799	0.79792	-0.9176	0.45877	T	0.116	0.40942	T	10	0.4928868	0.61096	T	0.032973	0.54655	D	0.265	0.57870	0.413	0.45052	0.123314135267	0.11883	0.8026092006539699	0.80214	0.853067745502	0.68633	0.826758265495	0.86066	D	0.112789	0.42933	T	0.0905887	0.63255	D	-0.107652	0.62798	T	0.985511183738708	0.76485	D	0.914509	0.70605	D	0.3830657	0.59537	0.3834336	0.63307	0.3830657	0.59538	0.3834336	0.63306	-2.711	0.07396	T	.	.	0.692	0.78182	P	.;.;.;.;.	.;.;.;.;.	4.463839	0.69498	25.4	0.99894373861998742	0.96742	0.98118	0.79751	D	AEFBI	0.769649	0.70484	D	0.468704941893592	0.65273	4.802	0.474441899660477	0.66302	4.934307	0.981484620248143	0.30269	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	4.88	4.01	0.45821	7.014000	0.76124	7.706000	0.66547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9231:0.0:0.0769	13.179	0.59067	910	0.22284	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2114.98	36	chr2	195680089	.	C	T	2114.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.297e+00;DP=860;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.39;ReadPosRankSum=0.873;SOR=0.683	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1234	20	0	1	0
chr2	195777978	195777978	G	A	exonic	DNAH7	.	nonsynonymous SNV	DNAH7:NM_018897:exon59:c.C10886T:p.P3629L,	.	.	430	1090	1	1	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.951	P	0.684	P	0.000	D	1.000	D	4.415	H	2.15	T	-0.243	T	0.209	T	0.831	3.355	17.30	5.09	2.642	9.072	18.296	0.450	0.0278823255158	.	.	0.0003	0	0	0	0	0	0.0011	0.0018	0.000194	30	154602	rs749684293	0.0001	0.0001	6.825e-05	0.0002	0.0019	0.0001	0.0001	0.0016	0.0015	2.995e-05	2.252e-05	0	0	1.881e-05	0	1.263e-05	8.311e-05	0.0019	3.942e-05	3.94e-05	0	8.07e-05	0.0008	1.715e-05	1.129e-05	0.0003	0.0002	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0.0008	0.0	0.91255	D	0.002	0.79402	D	0.951	0.53992	P	0.684	0.53582	P	0.000000	0.84330	D	0.000000	1	0.81001	D	4.465	0.98868	H	2.15	0.19311	T	-7.21	0.94249	D	0.937	0.94314	-0.2427	0.76556	T	0.209	0.56852	T	10	0.6306551	0.68497	D	0.027882	0.50634	D	0.450	0.75074	0.739	0.87147	0.366466682447	0.36252	0.8209870592762887	0.82055	0.138988599698	0.15674	0.78626036644	0.79874	T	0.243226	0.61212	T	-0.152075	0.27988	T	-0.010236	0.69669	D	0.88014429807663	0.53014	D	0.983002	0.94694	D	0.5338497	0.69049	0.4949509	0.70791	0.5338497	0.69050	0.4949509	0.70791	-10.406	0.76847	D	.	.	0.824	0.78422	P	.;.	.;.	4.134933	0.61910	24.4	0.998817656418021	0.95813	0.99059	0.90625	D	AEFI	0.888907	0.82249	D	0.851344270211589	0.89183	9.868605	0.713592458110147	0.83409	8.014478	0.999995311469717	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	5.09	5.09	0.68647	9.365000	0.96546	11.752000	0.95431	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.002000	0.04165	0.0:0.0:1.0:0.0	18.296	0.90088	935	0.14827	.;Dynein heavy chain domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1106.98	33	chr2	195777978	.	G	A	1106.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=742;ExcessHet=0.0000;FS=1.187;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.13;ReadPosRankSum=-7.000e-01;SOR=0.476	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1476	20	0	1	0
chr2	195897720	195897720	T	C	exonic	DNAH7	.	nonsynonymous SNV	DNAH7:NM_018897:exon29:c.A4594G:p.I1532V,	.	.	489	1028	5	0	0	5	0.00242601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.998	D	0.994	D	0.000	D	1.000	D	2	M	1.9	T	-0.966	T	0.115	T	0.488	4.184	21.7	5.92	2.266	5.125	16.024	0.171	.	.	0.0117812	0.0053	0	0.0003	0.0137	0	0.0003	0.0022	0.0297	0.0046507	719	154602	rs139274808	0.0020	0.0020	0.0013	0.0026	0.0251	0.0019	0.0019	0.0242	0.0238	3.033e-05	2.297e-05	3.87e-05	0.0090	1.879e-05	0.0021	0.0002	0.0035	0.0251	0.0015	0.0015	0.0011	0.0019	0.0284	0.0014	0.0013	0.0245	0.0230	7.38e-05	0	0.0003	0	0.0135	0	0.0034	0.0002	0.0024	0.0284	0.03	0.45393	D	.	.	.	0.998	0.73220	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.49	0.72568	M	1.9	0.23486	T	-0.94	0.25118	N	0.608	0.62526	-0.9657	0.38073	T	0.115	0.40786	T	10	0.0071324706	0.00162	T	.	.	.	0.171	0.43483	.	.	0.489449420884	0.48578	0.32496646133411633	0.32409	0.145879884448	0.16476	0.68594700098	0.65123	T	0.028318	0.20539	T	-0.412568	0.01912	T	-0.354371	0.38702	T	0.0680273783062483	0.08371	T	0.953705	0.82322	D	0.22089803	0.44655	0.20728335	0.44980	0.22089803	0.44655	0.20728335	0.44979	-7.907	0.60435	D	.	.	0.127	0.26978	B	.	.	3.732384	0.53402	23.4	0.99918361825095703	0.98586	0.97077	0.72555	D	AEFBI	0.805554	0.73011	D	0.720277453289721	0.80960	7.412028	0.717982659884083	0.83744	8.102917	0.999922993960766	0.46280	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.92	5.92	0.95557	5.109000	0.64456	5.031000	0.46827	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.024	0.80333	915	0.20917	.	.	.	.	.	rs139274808	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	603.98	41	chr2	195897720	.	T	C	603.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.47;DP=788;ExcessHet=0.0000;FS=4.786;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.84;ReadPosRankSum=-4.260e-01;SOR=1.286	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,105,1381	20	0	1	0
chr2	195969966	195969966	C	A	exonic	DNAH7	.	nonsynonymous SNV	DNAH7:NM_018897:exon17:c.G2187T:p.L729F,	.	.	461	1058	3	0	0	3	0.00141576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	1.0	D	1.0	D	0.003	U	1.000	D	2.85	M	1.69	T	-0.844	T	0.160	T	0.546	3.048	16.17	5.35	2.674	0.739	6.072	0.229	0.0181349667968	.	0.00119808	0.0003	0	0.0002	0	0	4.53e-05	0	0.0016	0.0002458	38	154602	rs553164161	0.0002	0.0002	0.0001	0.0002	0.0019	0.0002	0.0001	0.0017	0.0016	0	2.356e-05	0	0	0	0.0010	6.218e-05	0.0002	0.0019	0.0001	0.0001	9e-05	0.0001	0.0023	7.578e-05	6.283e-05	0.0013	0.0010	2.408e-05	0	6.542e-05	0	0	0	0.0034	5.884e-05	0	0.0023	0.003	0.68238	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.003404	0.34985	U	0.000000	0.999985	0.54805	D	3.1	0.87590	M	1.69	0.27032	T	-3.9	0.72932	D	0.741	0.74098	-0.8439	0.52386	T	0.160	0.49480	T	10	0.07075584	0.10338	T	0.018135	0.40103	T	0.229	0.52916	0.392	0.41606	0.528009843598	0.52448	0.5164391035354019	0.51566	0.240823321714	0.26620	0.606749355793	0.53857	T	0.044952	0.26973	T	-0.368921	0.03649	T	-0.327334	0.41764	T	0.359079467483955	0.27373	T	0.80082	0.44648	T	0.29551798	0.52500	0.3354155	0.59356	0.29551798	0.52500	0.3354155	0.59355	-8.945	0.67342	D	.	.	0.822	0.78314	P	.	.	3.586859	0.50598	23.0	0.99821285450165564	0.90414	0.88133	0.47928	D	AEFI	0.297797	0.40728	N	0.648027815192614	0.76240	6.450244	0.594174528546616	0.74518	6.151207	1.44234540259966E-4	0.05573	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.35	5.35	0.76297	0.761000	0.26154	3.977000	0.40873	0.537000	0.25018	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1788:0.7025:0.0:0.1188	6.072	0.19119	892	0.26670	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1580.98	34	chr2	195969966	.	C	A	1580.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.803e+00;DP=829;ExcessHet=0.0000;FS=0.622;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.13;ReadPosRankSum=-4.000e-01;SOR=0.760	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1238	20	0	1	0
chr2	196000850	196000850	T	A	exonic	DNAH7	.	nonsynonymous SNV	DNAH7:NM_018897:exon12:c.A1207T:p.I403F,	.	.	481	1038	3	0	0	3	0.001443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.001	B	0.001	B	0.634	N	1.000	D	2.175	M	2.72	T	-1.098	T	0.072	T	0.488	2.199	13.31	3.08	0.340	1.583	8.221	0.174	0.0108876960318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.385e-06	1.368e-06	1.377e-06	1.393e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.677e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.736	0.49613	T	0.009	0.66756	D	0.001	0.07471	B	0.001	0.04355	B	0.633749	0.10662	N	0.822306	0.998364	0.49637	D	2.535	0.73915	M	1.91	0.23283	T	-1.93	0.59059	N	0.451	0.51761	-1.0981	0.04328	T	0.072	0.29323	T	10	0.2057187	0.36808	T	0.010888	0.27936	T	0.174	0.44019	0.445	0.50302	0.183819452728	0.17975	0.4190143365557646	0.41817	0.0384574760045	0.04094	0.380378752947	0.22310	T	0.014127	0.12084	T	-0.114691	0.33995	T	-0.402522	0.33091	T	0.534706830978394	0.33908	D	0.835216	0.55630	T	0.15669921	0.35349	0.13765408	0.32898	0.15669921	0.35349	0.13765408	0.32897	-5.143	0.38357	T	.	.	0.218	0.44860	B	.;.	.;.	2.044579	0.25992	16.96	0.9536765169841015	0.26774	0.83654	0.42757	D	AEFHCI	0.563877	0.57089	D	-0.170581822401456	0.34363	1.960483	-0.0601837084746139	0.37054	2.164359	1.54429849853999E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.61	3.08	0.34576	1.594000	0.36307	1.450000	0.26598	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1779:0.0:0.8221	8.221	0.30701	861	0.33516	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3386.11	40	chr2	196000850	.	T	A	3386.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.37;DP=952;ExcessHet=0.1072;FS=0.965;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=0.351;SOR=0.776	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1305	19	0	2	0
chr2	196048358	196048358	A	C	exonic	DNAH7	.	nonsynonymous SNV	DNAH7:NM_018897:exon4:c.T188G:p.L63W,	.	.	429	1083	10	0	0	10	0.00459559	.	.	2341874	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.986	D	0.154	N	0.993	N	1.525	L	1.58	T	-1.008	T	0.139	T	0.534	2.997	15.99	4.81	2.156	4.316	10.924	0.192	0.014925950496	.	0.000599042	0.0003	0	0.0002	0	0	0.0002	0	0.0015	0.0002652	41	154602	rs199626467	0.0002	0.0002	0.0002	0.0003	0.0016	0.0002	0.0002	0.0011	0.0010	0	0.0002	0	0	0	0.0016	0.0001	0.0004	0.0013	0.0002	0.0002	8.992e-05	0.0002	0.0021	0.0001	8.71e-05	0.0011	0.0009	4.809e-05	0	6.537e-05	0	0	0	0.0034	0.0001	0	0.0021	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.986	0.76916	D	0.154361	0.17864	N	0.481828	1	0.08975	N	1.1	0.28011	L	1.49	0.31470	T	-2.21	0.89534	N	0.479	0.51405	-1.0085	0.27385	T	0.139	0.45772	T	10	0.013136417	0.00280	T	0.014926	0.35361	T	0.192	0.47115	.	.	0.597704877147	0.59451	0.313101131475013	0.31223	0.259900179881	0.28552	0.603887319565	0.53453	T	0.020198	0.15948	T	-0.363069	0.03960	T	-0.344741	0.39806	T	0.179022532461581	0.19173	T	0.718628	0.34901	T	0.17845112	0.38865	0.35276204	0.60848	0.17845112	0.38865	0.35276204	0.60848	-5.966	0.45994	T	.	.	0.478	0.73905	A	.;.;.	.;.;.	3.727264	0.53295	23.3	0.94997556217319357	0.25954	0.80628	0.40216	D	AEFBI	0.464356	0.51289	N	0.244696126402025	0.53377	3.506835	0.11690151758801	0.45414	2.804898	0.00127360257356908	0.08400	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.81	4.81	0.61401	4.334000	0.59076	10.938000	0.84325	0.691000	0.84096	0.856000	0.30544	1.000000	0.68203	0.178000	0.21234	1.0:0.0:0.0:0.0	10.924	0.46389	865	0.32612	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1528.98	34	chr2	196048358	.	A	C	1528.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=839;ExcessHet=0.0000;FS=1.360;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=1.05;SOR=0.865	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1186	20	0	1	0
chr2	196318969	196318969	C	T	exonic	HECW2	.	nonsynonymous SNV	HECW2:NM_001304840:exon7:c.G853A:p.A285T	Neurodevelopmental disorder with hypotonia, seizures, and absent language, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2333443	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.39	T	0.688	P	0.064	B	0.001	N	1.000	N	0.55	N	1.4	T	-1.037	T	0.046	T	0.498	2.026	12.73	5.19	2.704	2.838	13.818	0.106	0.00465998112522	.	.	8.5e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs767070217	1.096e-05	1.094e-05	5.45e-06	1.652e-05	5.038e-05	6.49e-06	5.25e-06	1.586e-05	9.32e-06	0	0	0	5.038e-05	0	0	7.199e-06	3.315e-05	4.653e-05	2.628e-05	2.627e-05	3.854e-05	1.345e-05	0.0001	8.14e-06	5.14e-06	2.261e-05	9.07e-06	4.826e-05	0	0.0001	0	0	0	0	0	0	0	0.013	0.53900	D	0.492	0.11479	T	0.688	0.41582	P	0.064	0.27215	B	0.001080	0.40389	N	0.216428	0.999992	0.08975	N	0	0.06538	N	1.4	0.33630	T	-0.51	0.15986	N	0.598	0.61680	-1.0368	0.18295	T	0.046	0.19559	T	10	0.12587881	0.23925	T	0.00466	0.11566	T	0.106	0.30130	0.145	0.04843	0.45509904304	0.45135	0.23648942399701356	0.23563	0.355098685327	0.37273	0.684469938278	0.64910	T	0.014372	0.12250	T	-0.22467	0.17361	T	-0.378352	0.35915	T	0.147259394164917	0.16884	T	0.904909	0.66542	D	0.064629994	0.13731	0.07937958	0.17865	0.064629994	0.13730	0.07937958	0.17865	-3.612	0.18031	T	0.18491605694302202	0.24004	0.132	0.28550	B	.;.;.;.	.;.;.;.	3.638743	0.51583	23.1	0.99664489907650722	0.78138	0.90266	0.51306	D	AEFBI	0.277112	0.39170	N	-0.105010920096209	0.37175	2.158989	-0.0101932515370304	0.39252	2.324632	0.999725100808596	0.42220	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	3.063000	0.49672	3.842000	0.40046	0.599000	0.40250	0.972000	0.34453	0.999000	0.35428	0.354000	0.25750	0.1529:0.8471:0.0:0.0	13.818	0.62793	805	0.43675	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1096.98	48	chr2	196318969	.	C	T	1096.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.980e-01;DP=842;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.35;ReadPosRankSum=0.374;SOR=0.642	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	20	0	1	0
chr2	196319544	196319546	CTC	-	exonic	HECW2	.	nonframeshift deletion	HECW2:NM_001304840:exon7:c.276_278del:p.R92del	Neurodevelopmental disorder with hypotonia, seizures, and absent language, Autosomal dominant	.	429	1066	27	0	0	27	0.0125058	.	.	717986	not_provided|HECW2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0030	0.00159744	0.0035	0.0005	0.0041	0	0.0083	0.0043	0.0110	0.0010	0.00146	38	26028	rs562760525	0.0029	0.0029	0.0029	0.0029	0.0146	0.0028	0.0028	0.0121	0.0111	0.0007	0.0029	0.0023	2.519e-05	0.0087	0.0146	0.0028	0.0036	0.0012	0.0031	0.0031	0.0030	0.0032	0.0040	0.0029	0.0028	0.0036	0.0034	0.0005	0.0011	0.0039	0.0035	0	0.0089	0.0170	0.0040	0.0038	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2710.94	48	chr2	196319543	.	ACTC	A	2710.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=935;ExcessHet=0.0000;FS=1.335;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.36;ReadPosRankSum=0.975;SOR=0.763	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	20	0	1	0
chr2	196790011	196790011	T	C	exonic	GTF3C3	.	nonsynonymous SNV	GTF3C3:NM_001206774:exon5:c.A595G:p.M199V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.608	P	0.175	B	0.000	D	0.991	D	0.895	L	1.24	T	-1.091	T	0.055	T	0.277	2.360	13.85	4.52	2.169	3.350	11.052	0.078	0.0070814595898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.17410	T	0.307	0.32783	T	0.495	0.39540	P	0.065	0.35598	B	0.000004	0.62929	D	0.102934	0.991472	0.41397	D	1.845	0.48678	L	1.24	0.36691	T	-0.95	0.25986	N	0.277	0.31590	-1.0912	0.05335	T	0.055	0.23224	T	10	0.18454927	0.33835	T	0.007081	0.18759	T	0.078	0.22779	0.372	0.38340	0.380564188046	0.37663	0.3299286745795214	0.32905	1.2650273437	0.82139	0.647580981255	0.59643	T	0.16315	0.50810	T	-0.139839	0.29917	T	-0.438645	0.28961	T	0.42974328994751	0.30051	T	0.851115	0.53499	D	0.09776689	0.23050	0.15074654	0.35539	0.09776689	0.23050	0.15074654	0.35539	-5.834	0.48856	T	.	.	0.066	0.08417	B	.;.	.;.	2.790841	0.36681	20.3	0.96673276295709587	0.30672	0.95816	0.66275	D	AEFBI	0.376869	0.46085	N	-0.0097373232172657	0.41413	2.476681	0.140927319542464	0.46663	2.908703	0.564000904831591	0.21437	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	4.52	0.54797	3.337000	0.51838	6.036000	0.52970	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0721:0.0:0.9279	11.052	0.47112	254	0.90023	Tetratricopeptide repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1424.98	53	chr2	196790011	.	T	C	1424.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.300e+00;DP=936;ExcessHet=0.0000;FS=0.604;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.50;ReadPosRankSum=-1.433e+00;SOR=0.652	GT:AD:DP:GQ:PL	0/1:79,71:150:99:1439,0,1778	20	0	1	0
chr2	196998982	196998982	G	C	exonic	ANKRD44	.	nonsynonymous SNV	ANKRD44:NM_001195144:exon24:c.C2590G:p.P864A	.	.	420	1101	0	1	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.024	B	0.037	B	0.224	N	1.000	N	0.27	N	-0.03	T	-1.032	T	0.075	T	0.174	0.210	5.135	2.09	0.236	2.155	15.999	0.064	0.0274943792798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.32929	T	0.159	0.36765	T	.	.	.	.	.	.	0.223661	0.16080	N	0.643332	1	0.08975	N	0.98	0.24916	L	-0.03	0.63403	T	-1.0	0.27876	N	0.155	0.16028	-1.0317	0.19905	T	0.075	0.30179	T	10	0.12583676	0.23917	T	0.027494	0.50302	D	0.071	0.20720	.	.	0.434057395736	0.43027	0.1762981465316837	0.17548	.	.	0.265163719654	0.05522	T	0.01413	0.12091	T	-0.137067	0.30356	T	-0.434664	0.29406	T	0.0575197429700264	0.06773	T	0.879912	0.59828	D	0.029197676	0.02375	0.08721102	0.20258	0.029197676	0.02375	0.08721102	0.20257	-3.571	0.22677	T	.	.	0.064	0.02518	B	.;.;.;.	.;.;.;.	1.484279	0.19102	14.09	0.82140085711680211	0.14039	0.23796	0.22191	N	AEFBI	0.100032	0.20124	N	-0.468139618699745	0.23130	1.23993	-0.505554525251204	0.22002	1.192934	0.00691900400081052	0.11340	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	4.97	2.09	0.26154	2.914000	0.48495	4.646000	0.44176	0.618000	0.50648	0.502000	0.26971	1.000000	0.68203	0.172000	0.21044	0.0:0.4021:0.5979:0.0	15.999	0.80070	406	0.82375	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	609.98	34	chr2	196998982	.	G	C	609.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.879;DP=764;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=1.38;SOR=0.784	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1299	20	0	1	0
chr2	197078765	197078765	T	G	exonic	ANKRD44	.	nonsynonymous SNV	ANKRD44:NM_001195144:exon16:c.A1588C:p.K530Q	.	.	435	1043	42	2	0	46	0.021576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.997	D	0.971	D	0.000	D	1.000	D	1.51	L	2.34	T	-0.206	T	0.362	T	0.526	4.997	29.3	5.25	2.326	7.825	15.608	0.188	0.044483328986	0.0043	0.00219649	0.0043	0.0003	0.0051	0	0.0002	0.0061	0.0078	0.0030	0.0042496	657	154602	rs61752172	0.0045	0.0045	0.0043	0.0047	0.0232	0.0044	0.0044	0.0200	0.0188	0.0009	0.0042	0.0174	0	0.0003	0.0232	0.0046	0.0052	0.0040	0.0038	0.0038	0.0042	0.0035	0.0058	0.0036	0.0035	0.0053	0.0051	0.0007	0.0066	0.0043	0.0173	0	0.0004	0.0238	0.0058	0.0019	0.0035	0.01	0.56456	D	0.055	0.46862	T	0.995	0.67487	D	0.971	0.72444	D	0.000000	0.84330	D	0.046886	0.999989	0.58761	D	0.89	0.21648	L	2.3	0.65931	T	-1.61	0.42575	N	0.669	0.67736	-0.2056	0.77526	T	0.362	0.72322	T	10	0.007460773	0.00169	T	0.044483	0.61512	D	0.188	0.46444	.	.	0.731554431525	0.72916	0.32170601744354904	0.32083	.	.	0.556903243065	0.46831	T	0.025182	0.18883	T	-0.279275	0.10743	T	-0.170629	0.57386	T	0.0258788176821459	0.01390	T	0.863714	0.70605	D	0.44360352	0.63634	0.26562166	0.52396	0.44360352	0.63634	0.26562166	0.52395	-10.304	0.76657	D	.	.	0.152	0.38080	B	.;.;.;.;.;.	.;.;.;.;.;.	4.500741	0.70384	25.5	0.99540422626555025	0.70461	0.95533	0.65100	D	AEFDBHCI	0.907504	0.86161	D	0.674634754167697	0.77971	6.778502	0.684628958700051	0.81211	7.474072	0.999999999999662	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.685742	0.62368	0	0.567892	0.33627	0	.	.	5.25	5.25	0.73169	8.017000	0.88732	7.886000	0.72778	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:0.0:1.0	15.608	0.76440	736	0.53558	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3508.11	35	chr2	197078765	.	T	G	3508.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.20;DP=984;ExcessHet=0.1072;FS=0.887;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=1.75;SOR=0.627	GT:AD:DP:GQ:PL	0/1:91,77:168:99:1784,0,2279	19	0	2	0
chr2	197523648	197523648	T	C	exonic	HSPE1-MOB4;MOB4	.	nonsynonymous SNV	MOB4:NM_015387:exon2:c.T85C:p.S29P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.000	D	1.000	D	-1.67	N	.	.	-0.977	T	0.034	T	0.646	1.588	11.27	5.02	1.896	6.225	14.399	0.267	0.00959765325218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.265e-05	0.0013	8.89e-05	9.642e-05	0.0001	7.932e-05	7.455e-05	9.055e-05	8.505e-05	3.135e-05	0	0.0001	0	0	0	0.0001	8.651e-05	8.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.579	0.08535	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.053972	0.999993	0.81001	D	-1.795	0.00292	N	.	.	.	1.18	0.01107	N	0.438	0.48042	-0.9766	0.35772	T	0.034	0.14813	T	9	0.10651526	0.19742	T	0.009598	0.25107	T	0.267	0.58126	0.341	0.33302	0.043077524339	0.03247	0.669975451478545	0.66935	1.34794577022	0.84014	0.778468906879	0.78697	T	0.055673	0.30073	T	0.0500577	0.58352	T	-0.165872	0.57820	T	0.811242938041687	0.47136	D	0.892711	0.63097	D	0.20700711	0.42893	0.20881961	0.45200	0.20700711	0.42893	0.20881961	0.45199	-0.876	0.00872	T	.	.	0.084	0.09820	B	.;.	.;.	3.297964	0.45264	22.1	0.8980768734361223	0.19119	0.98559	0.84088	D	AEFBI	0.838587	0.75609	D	-0.516315308048682	0.21553	1.144632	-0.200201322439165	0.31530	1.785231	0.986724794269661	0.31114	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	5.652000	0.67632	7.608000	0.61804	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.399	0.66596	474	0.77851	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	5227.32	96	chr2	197523648	.	T	C	5227.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=-1.034e+00;DP=1714;ExcessHet=36.0830;FS=391.571;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=60.00;MQRankSum=0.00;QD=3.31;ReadPosRankSum=0.282;SOR=12.797	GT:AD:DP:GQ:PL	0/1:41,28:69:99:208,0,575	0	0	19	2
chr2	199323873	199323873	A	G	exonic	SATB2	.	nonsynonymous SNV	SATB2:NM_001172509:exon9:c.T1472C:p.I491T	Glass syndrome, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.999	D	0.000	D	1.000	D	2.045	M	0.18	T	-0.329	T	0.376	T	0.851	3.904	19.85	5.96	2.285	9.339	16.448	0.568	0.0425703827274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.497e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.795	0.47270	L	0.15	0.60734	T	-2.26	0.61865	N	0.955	0.97095	-0.3292	0.74156	T	0.376	0.73401	T	10	0.92720294	0.92066	D	0.04257	0.60531	D	0.568	0.82403	0.805	0.92301	0.635899028212	0.63291	0.9604697085027297	0.96032	2.46387727901	0.97434	0.890895605087	0.95371	D	0.479975	0.80916	T	0.261127	0.79633	D	0.137315	0.79369	D	0.908463060855865	0.56306	D	0.992126	0.98962	D	0.41215557	0.61566	0.54178786	0.73517	0.41215557	0.61566	0.54178786	0.73518	-15.097	0.96075	D	0.6709566999866549	0.74590	1.000	0.99219	P	.;.;.;.;.;.	.;.;.;.;.;.	5.024745	0.83534	28.1	0.99827830800469564	0.91026	0.99284	0.93939	D	AEFBI	0.927601	0.91051	D	0.846789532133977	0.88924	9.765369	0.849859941436155	0.93007	11.76693	0.999999953588536	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.96	5.96	0.96695	9.325000	0.96006	11.188000	0.88560	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.448	0.83801	844	0.36711	CUT domain|CUT domain|CUT domain;.;CUT domain|CUT domain|CUT domain;CUT domain|CUT domain|CUT domain;.;CUT domain|CUT domain|CUT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	76.23	34	chr2	199323873	.	A	G	76.23	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.278e+00;DP=972;ExcessHet=0.1072;FS=179.814;InbreedingCoeff=-0.0476;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.25;ReadPosRankSum=1.54;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1248	19	0	2	0
chr2	199819527	199819527	-	A	exonic	FTCDNL1	.	stoploss	FTCDNL1:NM_001350853:exon4:c.441dupT:p.*148delinsLNLRSPL*,	.	.	465	530	157	5	365	532	0.136104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	1928.6	30	chr2	199819526	.	TA	T,TAA,TAAA	1928.6	.	AC=4,14,2;AF=0.095,0.333,0.048;AN=42;BaseQRankSum=0.562;DP=865;ExcessHet=26.8223;FS=1.986;InbreedingCoeff=-0.6840;MLEAC=3,15,2;MLEAF=0.071,0.357,0.048;MQ=60.00;MQRankSum=0.00;QD=2.80;ReadPosRankSum=-2.030e-01;SOR=0.840	GT:AD:DP:GQ:PL	0/2:27,5,11,0:43:99:112,133,810,0,466,566,227,771,591,862	2	0	4	0
chr2	199819527	199819527	-	AA	exonic	FTCDNL1	.	stoploss	FTCDNL1:NM_001350853:exon4:c.441_442insTT:p.*148delinsFKLEVPFMSHTLLMQEEL*,	.	.	465	530	157	5	365	532	0.136104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	1928.6	30	chr2	199819526	.	TA	T,TAA,TAAA	1928.6	.	AC=4,14,2;AF=0.095,0.333,0.048;AN=42;BaseQRankSum=0.562;DP=865;ExcessHet=26.8223;FS=1.986;InbreedingCoeff=-0.6840;MLEAC=3,15,2;MLEAF=0.071,0.357,0.048;MQ=60.00;MQRankSum=0.00;QD=2.80;ReadPosRankSum=-2.030e-01;SOR=0.840	GT:AD:DP:GQ:PL	0/2:27,5,11,0:43:99:112,133,810,0,466,566,227,771,591,862	2	0	4	0
chr2	199819716	199819716	C	T	exonic	FTCDNL1	.	nonsynonymous SNV	FTCDNL1:NM_001350853:exon4:c.G253A:p.V85M	.	.	430	1038	52	2	0	56	0.0262664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00758786	0.0224	0	0	0	.	0.0272	0	0.0223	0.0026908	416	154602	rs61751881	0.0077	0.0067	0.0063	0.0088	0.0243	0.0075	0.0074	0.0233	0.0229	0.0007	0.0018	0.0363	0	0.0004	0.0147	0.0049	0.0085	0.0243	0.0044	0.0045	0.0040	0.0049	0.0253	0.0042	0.0041	0.0216	0.0202	0.0008	0.0044	0.0031	0.0360	0.0004	0.0004	0.0204	0.0047	0.0066	0.0253	0.039	0.42487	D	0.156	0.32675	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.58	0.81987	D	-1.31	0.32791	N	0.114	0.10198	.	.	.	.	.	.	.	0.005957812	0.00134	T	.	.	.	.	.	.	.	.	.	0.41017121169101334	0.40933	.	.	0.414369285107	0.27061	T	0.413499	0.76734	T	-0.373465	0.03422	T	-0.290309	0.45740	T	.	.	.	0.741226	0.36032	T	0.044206727	0.07027	0.17805137	0.40449	0.044206727	0.07027	0.17805137	0.40448	-5.733	0.43986	T	.	.	0.155	0.34339	B	.;.	.;.	0.792175	0.11628	8.213	0.93346543586921327	0.23079	0.06193	0.12178	N	AEFDBI	0.079815	0.16128	N	.	.	.	.	.	.	0.972067605232243	0.29339	0.553676	0.25195	0	0.588015	0.36545	0	0.608075	0.38828	0	0.564101	0.26826	0	.	.	4.59	2.77	0.31614	0.256000	0.18120	-1.824000	0.04659	0.542000	0.25261	0.120000	0.23175	0.000000	0.08366	0.029000	0.12982	0.0:0.6286:0.1793:0.192	4.77	0.12523	648	0.63242	Formiminotransferase, N-terminal subdomain|Formiminotransferase, N-terminal subdomain;Formiminotransferase, N-terminal subdomain|Formiminotransferase, N-terminal subdomain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	865.98	36	chr2	199819716	.	C	T	865.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.070e-01;DP=834;ExcessHet=0.0000;FS=4.980;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=0.823;SOR=0.388	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1469	20	0	1	0
chr2	199925261	199925261	A	G	exonic	C2orf69	.	nonsynonymous SNV	C2orf69:NM_153689:exon2:c.A533G:p.N178S,	.	.	471	1050	0	1	0	2	0.000951475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.084	N	1.000	N	-1.935	N	.	.	-0.980	T	0.011	T	0.01	-0.930	0.379	-12.1	-2.531	-0.322	19.027	0.183	0.000999559515257	0.0002	0.00139776	0.0006	0.0001	0	0.0075	0	5.997e-05	0	0.0001	0.0005692	88	154602	rs141729817	0.0004	0.0004	0.0004	0.0004	0.0061	0.0003	0.0003	0.0055	0.0053	0	0.0002	3.827e-05	0.0061	0	0.0007	0.0002	0.0006	0.0004	0.0005	0.0005	0.0005	0.0005	0.0069	0.0004	0.0004	0.0052	0.0045	0.0001	0	0.0008	0	0.0069	0	0	0.0002	0	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.083606	0.20743	N	0.570907	1	0.08975	N	-0.555	0.02337	N	.	.	.	0.31	0.04022	N	0.008	0.00068	-0.9797	0.35071	T	0.011	0.03949	T	9	0.0035810173	0.00065	T	0.001	0.01073	T	0.183	0.45592	.	.	0.112648838833	0.10856	0.17149742620742983	0.17069	0.264940589873	0.29051	.	.	.	3.5E-4	0.00102	T	-0.725109	0.00026	T	-0.80978	0.01670	T	0.00468297175229741	0.00050	T	0.759724	0.38410	T	0.017233592	0.00257	0.03271385	0.02049	0.017233592	0.00256	0.03271385	0.02048	-5.279	0.39734	T	.	.	0.051	0.00161	B	.	.	-1.609213	0.00235	0.004	0.59567612764797295	0.06255	0.04641	0.10310	N	AEFBI	0.034989	0.04429	N	-2.10421203826457	0.00125	0.005368849	-2.05261452712796	0.00236	0.01040418	0.999996343080032	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	6.03	-12.1	0.00008	-0.309000	0.08185	-2.928000	0.03221	-0.681000	0.04224	0.000000	0.06391	0.000000	0.08366	0.980000	0.58198	0.0986:0.1758:0.7256:0.0	19.027	0.92915	640	0.64132	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1051.98	33	chr2	199925261	.	A	G	1051.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.240e-01;DP=764;ExcessHet=0.0000;FS=1.867;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=0.103;SOR=0.458	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1160	20	0	1	0
chr2	199925327	199925327	A	G	exonic	C2orf69	.	nonsynonymous SNV	C2orf69:NM_153689:exon2:c.A599G:p.N200S,	.	.	441	1058	22	1	0	24	0.011215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.016	B	0.029	B	0.001	D	0.729	D	0.205	N	.	.	-1.046	T	0.005	T	0.044	0.651	7.491	5.5	2.302	3.552	9.408	0.032	.	0.0046	0.0277556	0.0163	0.0014	0.0036	0.0982	0.0127	0.0061	0.0145	0.0339	0.015058	2328	154602	rs150129946	0.0091	0.0091	0.0084	0.0099	0.0775	0.0090	0.0089	0.0752	0.0743	0.0012	0.0036	0.0052	0.0775	0.0126	0.0061	0.0048	0.0125	0.0360	0.0084	0.0084	0.0071	0.0099	0.0907	0.0080	0.0079	0.0839	0.0812	0.0014	0	0.0061	0.0043	0.0907	0.0145	0.0034	0.0043	0.0109	0.0365	0.36	0.11919	T	0.806	0.03993	T	0.016	0.17332	B	0.029	0.21540	B	0.000849	0.41440	D	0.261542	0.72905	0.33699	D	0.69	0.16971	N	.	.	.	-0.79	0.21860	N	0.028	0.00618	-1.0462	0.15476	T	0.005	0.01761	T	9	0.001547128	0.00018	T	.	.	.	0.032	0.07718	.	.	.	.	0.17443525607362523	0.17362	0.282605507449	0.30711	.	.	.	0.002084	0.01490	T	-0.642711	0.00080	T	-0.618509	0.11302	T	0.00639136410793986	0.00071	T	0.752925	0.37500	T	0.03661274	0.04537	0.04759537	0.06891	0.03661274	0.04537	0.04759537	0.06890	-3.096	0.11250	T	.	.	0.091	0.12985	B	.	.	1.962724	0.24933	16.58	0.95025572698175864	0.26014	0.92795	0.56564	D	AEFBI	0.155834	0.28109	N	-0.28007695657649	0.29918	1.663456	-0.0498607988241431	0.37496	2.196231	0.892599707885436	0.25887	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	2.398000	0.44140	7.121000	0.57595	0.756000	0.94297	0.999000	0.42656	1.000000	0.68203	0.988000	0.63387	0.9219:0.0:0.0781:0.0	9.408	0.37636	640	0.64132	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2817.11	33	chr2	199925327	.	A	G	2817.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.440e-01;DP=856;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.02;ReadPosRankSum=1.03;SOR=0.668	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1160	19	0	2	0
chr2	199925669	199925669	C	T	exonic	C2orf69	.	nonsynonymous SNV	C2orf69:NM_153689:exon2:c.C941T:p.P314L,	.	.	428	1092	1	1	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.999	D	0.966	D	0.000	D	1.000	D	1.465	L	.	.	-0.398	T	0.370	T	0.533	2.873	15.57	5.63	2.636	2.609	18.667	0.397	0.00537036326544	.	.	6.631e-05	0	0	0	0	0.0001	0	6.059e-05	5.82e-05	9	154602	rs751350941	4.926e-05	4.925e-05	5.037e-05	4.814e-05	0.0002	3.993e-05	3.67e-05	4.613e-05	4.197e-05	0	4.473e-05	0	0	0	0.0002	5.756e-05	4.97e-05	2.319e-05	5.91e-05	5.906e-05	7.71e-05	4.03e-05	0.0001	3.076e-05	2.209e-05	4.766e-05	3.34e-05	0	0	6.54e-05	0	0	0	0.0034	0.0001	0	0	0.08	0.33585	T	0.175	0.29945	T	0.999	0.77913	D	0.966	0.71341	D	0.000029	0.55875	D	0.157668	0.999987	0.54805	D	1.935	0.51832	L	.	.	.	-3.7	0.70553	D	0.497	0.53006	-0.3980	0.72090	T	0.370	0.72978	T	9	0.35844475	0.52537	T	0.00537	0.13771	T	0.397	0.71163	.	.	0.186928172975	0.18263	0.6187170171674948	0.61804	0.371526058029	0.38651	.	.	.	0.050434	0.28595	T	-0.123891	0.32490	T	-0.200403	0.54608	T	0.327375201689722	0.26119	T	0.911709	0.68653	D	0.22579259	0.45247	0.1871449	0.41929	0.22579259	0.45247	0.1871449	0.41928	-6.868	0.53063	T	.	.	0.119	0.24464	B	.	.	4.515972	0.70766	25.6	0.99681129190196172	0.79241	0.91704	0.54087	D	AEFGBI	0.255738	0.37480	N	0.611540969837049	0.73903	6.043	0.623850215528054	0.76676	6.535059	0.999380382385154	0.39415	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.733575	0.97253	0	.	.	5.63	5.63	0.86108	2.637000	0.46219	7.712000	0.66855	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	18.667	0.91452	639	0.64210	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1161.98	33	chr2	199925669	.	C	T	1161.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.062e+00;DP=821;ExcessHet=0.0000;FS=3.619;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.17;ReadPosRankSum=-1.049e+00;SOR=0.998	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1160	20	0	1	0
chr2	200569725	200569725	A	G	exonic	SGO2	.	nonsynonymous SNV	SGO2:NM_001160033:exon6:c.A536G:p.N179S	.	.	442	1079	1	0	0	1	0.000463177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.049	B	0.019	B	0.336	N	1.000	N	0.55	N	1.79	T	-1.044	T	0.031	T	0.014	0.189	5.015	-1.68	-0.465	-0.310	0.663	0.026	0.00205132467033	.	.	1.667e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs760105961	7.53e-06	7.524e-06	5.449e-06	9.632e-06	0.0002	4.04e-06	2.95e-06	1.584e-05	9.31e-06	0	0	0	0	0	0.0002	2.699e-06	4.972e-05	4.644e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.506	0.08660	T	0.728	0.05203	T	0.001	0.11197	B	0.002	0.08700	B	0.336360	0.04161	N	1.393200	1	0.08975	N	.	.	.	1.79	0.25509	T	-0.35	0.26843	N	0.03	0.00717	-1.0442	0.16059	T	0.031	0.13199	T	10	0.028880179	0.01017	T	0.002051	0.03748	T	0.026	0.05648	0.143	0.04650	0.0884992946249	0.08302	0.03937806648231291	0.03883	0.0529373358897	0.05834	0.288933396339	0.08767	T	0.026044	0.19354	T	-0.495955	0.00602	T	-0.768654	0.02813	T	0.0247475684677064	0.01239	T	0.517648	0.16760	T	0.012529449	0.00036	0.014389908	0.00002	0.012529449	0.00036	0.014389908	0.00002	-3.112	0.11434	T	.	.	0.089	0.11989	B	.;.	.;.	-0.008207	0.04225	1.038	0.37544682420955966	0.02480	0.00791	0.03234	N	AEFGBI	0.027911	0.02363	N	-1.18754700028729	0.05188	0.2358974	-1.21808295072388	0.05619	0.2682484	8.06192140882195E-5	0.04552	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.76	-1.68	0.07773	-0.309000	0.08185	-0.168000	0.11254	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.831000	0.39176	0.366:0.1812:0.2833:0.1694	0.663	0.00793	683	0.59664	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1813.98	170	chr2	200569725	.	A	G	1813.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.612e+00;DP=862;ExcessHet=0.0000;FS=1.205;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.67;ReadPosRankSum=1.21;SOR=0.807	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1200	20	0	1	0
chr2	200864100	200864100	C	T	splicing	CLK1	NM_001162407:exon1:c.126+1G>A	.	.	.	.	423	1097	2	0	0	2	0.000910747	1.0000	0.676	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	D	.	.	.	.	.	.	.	.	.	0.000	4.015	-0.434	-0.123	0.235	4.059	.	.	.	0.000199681	9.368e-05	0	0	0	0	0.0002	0	0	2.59e-05	4	154602	rs75648691	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0002	0.0001	0	0.0003	0	0	0	0.0007	0.0002	0.0001	2.54e-05	9.844e-05	9.842e-05	0.0002	4.025e-05	0.0002	5.999e-05	4.874e-05	0.0001	9.897e-05	0	0	6.533e-05	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.630681	0.32787	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.618819	0.00112	T	-0.819251	0.01467	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.045958	0.14271	10.85	0.68979795220956219	0.08826	0.00361	0.01848	N	ALL	.	.	.	-0.0323661827113463	0.40393	2.398036	-0.4905243623663	0.22413	1.217267	0.999999997930018	0.74766	0.075627	0.01787	0	0.090139	0.02499	0	0.03606	0.00165	1	0.143876	0.04018	0	0.10436	0.22835	1.72	-0.434	0.11670	0.236000	0.17745	-0.591000	0.08322	0.318000	0.19305	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5022:0.0:0.4978	4.059	0.09308	347	0.85595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2180.98	34	chr2	200864100	.	C	T	2180.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.391;DP=969;ExcessHet=0.0000;FS=2.174;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.87;ReadPosRankSum=-3.620e-01;SOR=0.841	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1267	20	0	1	0
chr2	200892326	200892326	C	T	exonic	NIF3L1	.	nonsynonymous SNV	NIF3L1:NM_001142356:exon1:c.C383T:p.T128I	.	.	434	1087	1	0	0	1	0.00045977	.	.	3361967	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.725	H	0.34	T	0.228	D	0.477	T	0.988	4.753	26.6	4.84	2.521	7.448	17.754	0.695	0.0491232894678	.	.	0.0003	0	0.0017	0	0	0.0001	0.0011	0.0002	0.0002199	34	154602	rs761036956	0.0001	0.0001	0.0001	0.0002	0.0008	0.0001	0.0001	0.0006	0.0005	2.987e-05	0.0008	0	0	0	0	0.0001	0.0002	0.0002	8.539e-05	8.536e-05	7.705e-05	9.412e-05	0.0002	4.955e-05	3.961e-05	9.044e-05	7.009e-05	0	0	0.0001	0	0	0	0	0.0002	0	0	0.001	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.34	0.58176	T	-5.95	0.89152	D	0.987	0.99776	0.228	0.86377	D	0.477	0.79981	T	10	0.67722416	0.71064	D	0.049123	0.63676	D	0.695	0.88960	.	.	0.894397425128	0.89335	.	.	0.324672297079	0.34622	0.678758263588	0.64090	T	0.436136	0.78262	T	0.112746	0.65636	D	0.282757	0.87270	D	0.858703434467316	0.50934	D	0.974353	0.94130	D	0.9381911	0.95063	0.90467083	0.95309	0.9381911	0.95064	0.90467083	0.95309	-16.473	0.98387	D	.	.	0.925	0.88285	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.053680	0.84195	28.2	0.99906226109340257	0.97651	0.98564	0.84144	D	AEFBI	0.900591	0.84629	D	0.921059270198131	0.92751	11.60783	0.818780092555412	0.91067	10.70262	0.999999999999994	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	4.84	4.84	0.62125	7.521000	0.80758	7.670000	0.64725	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.880000	0.42090	0.0:1.0:0.0:0.0	17.754	0.88352	359	0.84979	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1479.98	34	chr2	200892326	.	C	T	1479.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.531e+00;DP=807;ExcessHet=0.0000;FS=1.682;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.33;ReadPosRankSum=-1.890e-01;SOR=0.903	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1277	20	0	1	0
chr2	201085536	201085536	G	T	exonic	NDUFB3	.	nonsynonymous SNV	NDUFB3:NM_002491:exon3:c.G218T:p.W73L	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	.	.	.	.	.	.	.	.	.	.	2132088	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.998	D	0.903	P	0.000	D	1.000	D	.	.	-0.86	T	0.043	D	0.559	D	0.811	1.841	12.11	5.65	2.838	6.255	18.881	0.703	0.147908430563	7.7e-05	.	9.894e-05	0	0	0	0	6e-05	0	0.0005	7.76e-05	12	154602	rs370085037	0.0001	0.0001	8.992e-05	0.0001	0.0006	8.787e-05	8.273e-05	0.0005	0.0004	0	4.474e-05	3.831e-05	0	0	0	7.38e-05	0.0001	0.0006	5.928e-05	5.915e-05	2.574e-05	9.444e-05	0.0002	3.084e-05	2.215e-05	5.845e-05	4.241e-05	0	0	0	0	0	0	0	0.0001	0	0.0002	0.407	0.10245	T	0.853	0.03477	T	0.998	0.73220	D	0.903	0.64103	P	0.000001	0.84330	D	0.060357	0.999988	0.54805	D	.	.	.	-0.86	0.74477	T	-3.52	0.68412	D	0.635	0.64818	0.043	0.83097	D	0.559	0.83933	D	8	0.56295985	0.64892	D	0.147908	0.82989	D	0.703	0.89330	.	.	0.87999889046	0.87882	0.7252081237094992	0.72464	0.676155866207	0.59746	0.696472525597	0.66635	T	0.120798	0.44329	T	-0.048327	0.44702	T	0.0686503	0.74821	D	0.295548796653748	0.24820	T	0.782222	0.41780	T	0.6063648	0.73033	0.57678115	0.75478	0.6063648	0.73034	0.57678115	0.75479	-6.305	0.48762	T	0.17478791755823048	0.22217	0.326	0.55138	B	.;.;.	.;.;.	3.837571	0.55512	23.6	0.94427053870106248	0.24839	0.98722	0.86019	D	AEFBI	0.871082	0.79231	D	0.695224674346258	0.79319	7.05276	0.719758767827058	0.83880	8.139041	0.827263209275987	0.24629	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.65	5.65	0.86881	6.589000	0.73968	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.881	0.92328	636	0.64483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1231.98	33	chr2	201085536	.	G	T	1231.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.570e-01;DP=868;ExcessHet=0.0000;FS=1.741;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.18;MQRankSum=0.086;QD=14.00;ReadPosRankSum=-7.270e-01;SOR=0.802	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	20	0	1	0
chr2	201407508	201407508	G	C	exonic	TRAK2	.	nonsynonymous SNV	TRAK2:NM_015049:exon3:c.C181G:p.L61V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.767	P	0.416	B	0.000	D	1.000	D	0.69	N	2.16	T	-1.114	T	0.040	T	0.15	1.789	11.94	5.02	2.596	2.723	11.931	0.059	0.00648314564579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.658	0.10553	T	1.0	0.03205	T	0.767	0.43786	P	0.416	0.44962	B	0.000494	0.43931	D	0.096319	0.999732	0.48635	D	0.565	0.15224	N	2.16	0.19166	T	-0.24	0.13035	N	0.247	0.27910	-1.1137	0.02770	T	0.040	0.17319	T	10	0.19527054	0.35373	T	0.006483	0.17072	T	0.059	0.16972	0.662	0.79996	0.275215494804	0.27121	0.29125751660931354	0.29038	0.456908585394	0.45342	0.434333950281	0.29802	T	0.013869	0.11911	T	-0.230664	0.16562	T	-0.56911	0.15532	T	0.923551976680756	0.58426	D	0.866613	0.57273	D	0.07320932	0.16342	0.062324125	0.12177	0.07320932	0.16342	0.062324125	0.12177	-7.463	0.57350	T	.	.	0.09	0.12607	B	.;.	.;.	2.924816	0.38838	20.8	0.99381976589752652	0.61935	0.84872	0.43965	D	AEFDGBHCI	0.314946	0.41966	N	0.0304106824315447	0.43241	2.620998	0.131381660245478	0.46163	2.866815	0.999999999574243	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	2.860000	0.48071	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.867000	0.41218	0.0794:0.0:0.9206:0.0	11.931	0.52129	377	0.83897	HAP1, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1170.98	33	chr2	201407508	.	G	C	1170.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.217e+00;DP=823;ExcessHet=0.0000;FS=0.704;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.55;ReadPosRankSum=-8.450e-01;SOR=0.614	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1087	20	0	1	0
chr2	201491791	201491791	C	G	exonic	C2CD6	.	nonsynonymous SNV	C2CD6:NM_001168221:exon15:c.G4550C:p.W1517S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.033	B	0.05	B	.	.	1.000	D	0.69	N	0.99	T	-1.086	T	0.065	T	0.133	0.672	7.595	1.54	0.343	0.064	6.303	0.027	0.00962521724037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.297	0.20551	T	.	.	.	.	.	.	.	.	.	.	0.977599	0.81001	D	.	.	.	0.99	0.41750	T	0.0	0.07008	N	0.168	0.17828	-1.0864	0.06155	T	0.065	0.26807	T	9	0.103854686	0.19115	T	0.009625	0.25153	T	0.027	0.05988	0.486	0.56939	0.177238962908	0.17366	0.061139578440542165	0.06053	0.223923963194	0.24908	0.322087466717	0.13738	T	.	.	.	-0.265066	0.12313	T	-0.618525	0.11301	T	0.0942932516336441	0.11717	T	0.285671	0.05095	T	.	.	.	.	.	.	.	.	0.364	0.00243	T	.	.	0.127	0.26855	B	.	.	0.831232	0.12026	8.583	0.95500283044323409	0.27089	0.18176	0.20151	N	AEFBI	0.151647	0.27617	N	-0.766434132535572	0.14191	0.704917	-0.750714816546643	0.15705	0.8272912	1.828419574484E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.29	1.54	0.22290	0.062000	0.14264	.	.	0.599000	0.40250	0.058000	0.21700	0.005000	0.19230	0.077000	0.17074	0.0:0.6925:0.0:0.3075	6.303	0.20333	571	0.70397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1625.98	53	chr2	201491791	.	C	G	1625.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.273e+00;DP=884;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=-3.590e-01;SOR=0.721	GT:AD:DP:GQ:PL	0/1:65,66:131:99:1640,0,1684	20	0	1	0
chr2	201492473	201492473	A	G	exonic	C2CD6	.	nonsynonymous SNV	C2CD6:NM_001168221:exon15:c.T3868C:p.F1290L,	.	.	521	990	11	0	0	11	0.00552486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	.	.	1.000	N	0.14	N	1.24	T	-0.986	T	0.034	T	0.035	-0.787	0.710	2.04	0.588	0.336	4.590	0.042	.	.	0.00159744	0.0065	0.0006	0.0199	0	0	0.0015	0.0140	0.0130	0.0010349	160	154602	rs184129762	0.0015	0.0014	0.0011	0.0019	0.0143	0.0014	0.0014	0.0118	0.0114	0.0002	0.0010	3.989e-05	2.811e-05	5.722e-05	0.0143	0.0008	0.0018	0.0123	0.0010	0.0010	0.0008	0.0011	0.0108	0.0008	0.0008	0.0084	0.0076	0.0001	0.0055	0.0006	0	0	9.43e-05	0.0034	0.0010	0.0024	0.0108	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.24	0.36691	T	2.14	0.00347	N	0.066	0.03841	-0.9864	0.33494	T	0.034	0.14769	T	9	0.002725631	0.00042	T	.	.	.	0.042	0.11227	0.213	0.13210	0.0401082797425	0.02173	0.020741532748635407	0.02027	0.15686944455	0.17710	0.318503677845	0.13194	T	.	.	.	-0.712102	0.00031	T	-0.784631	0.02316	T	0.000877498213199432	0.00008	T	0.382862	0.09330	T	.	.	.	.	.	.	.	.	-3.04	0.10618	T	.	.	0.337	0.55713	B	.	.	0.905654	0.12797	9.314	0.71116001165546405	0.09520	0.00296	0.01581	N	AEFBI	0.022213	0.01082	N	-1.01495353258299	0.08293	0.3883259	-0.902287385471047	0.12041	0.6170562	2.09519457158267E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.23	2.04	0.25787	0.661000	0.24706	.	.	-0.274000	0.06627	0.001000	0.13787	0.970000	0.29701	0.899000	0.43558	0.2915:0.0:0.5406:0.1679	4.590	0.11694	572	0.70300	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1321.98	53	chr2	201492473	.	A	G	1321.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.566;DP=962;ExcessHet=0.0000;FS=3.255;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=1.78;SOR=0.780	GT:AD:DP:GQ:PL	0/0:80,0:80:99:0,120,1800	20	0	1	0
chr2	201880153	201880153	A	G	exonic	CDK15	.	nonsynonymous SNV	CDK15:NM_001261435:exon12:c.A1184G:p.Y395C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.793	P	0.487	P	0.493	N	0.937	D	1.525	L	-0.39	T	-0.752	T	0.233	T	0.327	3.060	16.21	2.43	0.173	1.416	4.921	0.102	0.059597392584	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.33418	T	0.13	0.49390	T	.	.	.	.	.	.	0.492752	0.12038	N	0.773321	0.937309	0.37186	D	1.445	0.36358	L	-0.42	0.69536	T	-4.04	0.74427	D	0.357	0.44283	-0.7522	0.57820	T	0.233	0.59904	T	10	0.3146265	0.48902	T	0.059597	0.67717	D	0.102	0.29158	0.403	0.43408	0.69386598177	0.69122	0.3036952532869187	0.30282	0.168924006569	0.19044	0.30390894413	0.10987	T	.	.	.	-0.0593391	0.43010	T	-0.323013	0.42243	T	0.573856174945831	0.35383	D	0.952105	0.88706	D	.	.	.	.	.	.	.	.	-3.786	0.31330	T	.	.	0.080	0.10594	B	.;.;.;.	.;.;.;.	2.509493	0.32405	19.03	0.99504565920639509	0.68264	0.91688	0.54053	D	AEFDBIJ	0.355902	0.44747	N	0.053673039531949	0.44312	2.707526	0.0626752725957319	0.42689	2.586437	0.999983645200668	0.51787	0.603402	0.35316	0	0.624306	0.53593	0	0.657636	0.52715	0	0.663205	0.64265	0	.	.	6.17	2.43	0.28797	1.532000	0.35634	.	.	0.756000	0.94297	0.990000	0.36992	0.999000	0.35428	0.913000	0.44837	0.6961:0.1234:0.063:0.1176	4.921	0.13222	116	0.95299	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1442.98	37	chr2	201880153	.	A	G	1442.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.410e-01;DP=814;ExcessHet=0.0000;FS=2.440;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=1.87;SOR=0.467	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1275	20	0	1	0
chr2	202035234	202035234	G	A	exonic	FZD7	.	nonsynonymous SNV	FZD7:NM_003507:exon1:c.G587A:p.G196E,	.	.	385	1114	22	1	0	24	0.0106572	.	.	697252	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.212	B	0.05	B	0.410	N	1.000	N	0	N	-0.98	T	-0.997	T	0.109	T	0.265	-0.764	0.776	3.73	2.409	2.168	9.803	0.241	.	0.0052	0.00379393	0.0080	0.0015	0.0051	0.0012	0.0029	0.0112	0.0103	0.0069	0.0077877	1204	154602	rs34908164	0.0100	0.0099	0.0100	0.0099	0.0115	0.0098	0.0098	0.0113	0.0112	0.0018	0.0046	0.0025	0.0006	0.0022	0.0056	0.0115	0.0086	0.0078	0.0069	0.0070	0.0074	0.0065	0.0120	0.0066	0.0065	0.0113	0.0111	0.0019	0	0.0052	0.0023	0.0010	0.0012	0.0034	0.0120	0.0109	0.0064	0.152	0.24468	T	0.643	0.06903	T	0.212	0.30008	B	0.05	0.25278	B	0.410093	0.13008	N	0.708385	1	0.08975	N	0.975	0.24501	L	-0.98	0.75789	T	-1.35	0.33598	N	0.291	0.32921	-0.9969	0.30783	T	0.109	0.39344	T	10	0.0064643323	0.00146	T	.	.	.	0.241	0.54641	.	.	0.546911003084	0.54346	0.39633418643055696	0.39548	1.20464397403	0.80653	0.636838555336	0.58116	T	0.325165	0.69591	T	-0.399875	0.02319	T	-0.334845	0.40926	T	0.00461873763491411	0.00049	T	0.59804	0.22252	T	0.11452147	0.27034	0.19855107	0.43694	0.11452147	0.27034	0.19855107	0.43693	-3.449	0.15725	T	.	.	0.099	0.16843	B	.	.	3.053620	0.40982	21.3	0.74618492157724425	0.10763	0.26292	0.22951	N	AEFDBHCI	0.111875	0.22134	N	-0.598175887330292	0.19000	0.9909846	-0.463324773165451	0.23171	1.262298	0.999999797962117	0.74766	0.59774	0.34471	0	0.609123	0.50646	0	0.52208	0.10781	0	0.63947	0.58350	0	.	.	4.65	3.73	0.41982	2.304000	0.43315	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.044000	0.14658	0.0:0.1489:0.6981:0.153	9.803	0.39940	329	0.86514	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2042.98	33	chr2	202035234	.	G	A	2042.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.25;DP=804;ExcessHet=0.0000;FS=1.698;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.03;ReadPosRankSum=1.66;SOR=0.479	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,969	20	0	1	0
chr2	202821479	202821479	T	C	exonic	ICA1L	.	nonsynonymous SNV	ICA1L:NM_001288624:exon3:c.A238G:p.I80V	.	.	437	1050	33	2	0	37	0.017314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.004	B	0.009	B	0.001	N	1.000	D	0.69	N	-1.04	T	-0.944	T	0.114	T	0.161	2.415	14.03	2.03	0.487	0.057	1.124	0.161	.	0.0027	0.00299521	0.0038	0.0009	0.0046	0	0	0.0044	0.0078	0.0061	0.0037451	579	154602	rs144482724	0.0035	0.0035	0.0033	0.0036	0.0155	0.0034	0.0033	0.0129	0.0120	0.0010	0.0042	0.0112	2.535e-05	0.0004	0.0155	0.0033	0.0043	0.0062	0.0028	0.0028	0.0030	0.0026	0.0039	0.0026	0.0025	0.0035	0.0034	0.0009	0	0.0029	0.0098	0	0.0006	0.0170	0.0039	0.0062	0.0039	0.035	0.50676	D	0.008	0.72224	D	0.004	0.12183	B	0.009	0.14300	B	0.000505	0.43753	N	0.209861	1	0.81001	D	0.69	0.16971	N	-1.04	0.76561	T	-0.85	0.24026	N	0.095	0.07535	-0.9435	0.42057	T	0.114	0.40605	T	10	0.010987043	0.00242	T	.	.	.	0.161	0.41658	.	.	0.65404562455	0.65116	0.2827756610626727	0.28190	0.127220965103	0.14337	0.415514528751	0.27218	T	0.053694	0.29549	T	-0.424201	0.01609	T	-0.378944	0.35847	T	0.00587731285849128	0.00064	T	0.578142	0.21082	T	0.058083612	0.11641	0.074363604	0.16259	0.058083612	0.11641	0.074363604	0.16259	-3.237	0.26286	T	.	.	0.088	0.14293	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	2.060043	0.26190	17.03	0.98756593559104555	0.45739	0.80609	0.40202	D	AEFI	0.445910	0.50219	N	-0.394280166996794	0.25672	1.395341	-0.23245328244914	0.30381	1.710069	9.56336154837546E-4	0.08054	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.84	2.03	0.25714	-0.059000	0.11688	.	.	0.665000	0.62972	0.232000	0.24664	0.696000	0.26205	0.999000	0.91618	0.1493:0.1653:0.1552:0.5302	1.124	0.01624	754	0.51307	Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;.;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	491.98	33	chr2	202821479	.	T	C	491.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=745;ExcessHet=0.0000;FS=1.202;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.00;ReadPosRankSum=-4.580e-01;SOR=0.481	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1128	20	0	1	0
chr2	202952598	202952598	C	T	exonic	CARF	.	nonsynonymous SNV	CARF:NM_001282912:exon3:c.C82T:p.R28C	.	.	441	1070	11	0	0	11	0.0051139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.804	P	0.051	N	1.000	D	1.79	L	.	.	-0.264	T	0.353	T	0.459	4.710	26.1	5.46	2.567	2.895	18.287	0.194	0.0109573943316	0.0003	0.000199681	0.0005	0.0002	0.0015	0	0	0.0003	0.0022	0.0008	0.0004463	69	154602	rs192573972	0.0003	0.0003	0.0003	0.0003	0.0168	0.0003	0.0003	0.0141	0.0131	0.0004	0.0015	0	0	0	0.0168	0.0001	0.0005	0.0008	0.0004	0.0004	0.0004	0.0004	0.0016	0.0003	0.0003	0.0011	0.0010	0	0.0055	0.0016	0	0	0	0.0136	0.0002	0.0019	0.0008	0.011	0.72154	D	0.039	0.79402	D	0.995	0.73220	D	0.648	0.55529	P	0.050544	0.23060	N	0.366056	0.94809	0.39125	D	1.95	0.52479	M	.	.	.	-1.34	0.78891	N	0.463	0.58713	-0.2644	0.75967	T	0.353	0.71681	T	9	0.020588279	0.00477	T	0.010957	0.28083	T	0.194	0.47447	.	.	0.273503213844	0.26977	0.42086041258074336	0.42002	0.741878754513	0.63308	0.21025967598	0.00822	T	0.183861	0.53634	T	-0.268994	0.11869	T	-0.20472	0.54200	T	0.0734380806585915	0.09126	T	0.953805	0.83996	D	0.14000247	0.32318	0.08636636	0.20004	0.14000247	0.32317	0.08636636	0.20003	-7.341	0.56487	T	.	.	0.103	0.38080	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.008320	0.83146	28.0	0.99912041254882966	0.98095	0.90417	0.51576	D	AEFI	0.604286	0.59544	D	0.54030736074692	0.69492	5.364863	0.557127502577207	0.71893	5.724977	0.997466032780412	0.35646	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.46	5.46	0.80021	3.003000	0.49192	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	18.287	0.90059	505	0.75648	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	838.98	41	chr2	202952598	.	C	T	838.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.440e-01;DP=864;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.07;ReadPosRankSum=-1.190e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1061	20	0	1	0
chr2	202983529	202983529	A	T	exonic	CARF	.	nonsynonymous SNV	CARF:NM_001352679:exon13:c.A1051T:p.I351F	.	.	447	1069	6	0	0	6	0.00279851	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.013	B	0.007	B	0.001	D	1.000	D	1.1	L	.	.	-0.940	T	0.107	T	0.562	2.165	13.20	3.47	0.739	0.402	8.101	0.173	0.00300504959566	0.0002	.	0.0003	0	0.0002	0	0	4.531e-05	0	0.0019	0.0002587	40	154602	rs201849758	0.0002	0.0002	0.0001	0.0003	0.0019	0.0002	0.0002	0.0017	0.0016	0	0.0001	7.676e-05	0	0	0.0012	9.374e-05	0.0003	0.0019	0.0001	0.0001	0.0001	0.0002	0.0019	9.151e-05	7.706e-05	0.0010	0.0007	7.236e-05	0	0	0	0	0	0.0032	0.0001	0.0005	0.0019	0.005	0.63226	D	0.326	0.18789	T	0.013	0.16609	B	0.007	0.12992	B	0.000629	0.42799	D	0.104288	0.573	0.32313	D	2.28	0.64929	M	.	.	.	-0.72	0.20358	N	0.274	0.42834	-0.9403	0.42568	T	0.107	0.38832	T	9	0.016831487	0.00356	T	0.003005	0.06427	T	0.173	0.43840	.	.	0.250039746154	0.24611	0.24507498920419754	0.24421	0.317966989377	0.34026	0.341754376888	0.16701	T	0.131616	0.46122	T	-0.311242	0.07639	T	-0.227117	0.52051	T	0.0734342166171135	0.09124	T	0.839916	0.51465	T	0.15259795	0.34633	0.08874653	0.20711	0.15259795	0.34633	0.08874653	0.20711	-3.78	0.20506	T	.	.	0.080	0.13783	B	.;.;.;.;.	.;.;.;.;.	1.601493	0.20470	14.77	0.95508755904834319	0.27110	0.62598	0.31830	D	AEFGI	0.119999	0.23396	N	-0.368050891942807	0.26615	1.453846	-0.234159537018009	0.30322	1.706	5.69325078014256E-4	0.07335	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	4.63	3.47	0.38831	0.430000	0.21147	.	.	0.756000	0.94297	0.908000	0.31627	0.224000	0.23735	0.990000	0.65344	0.9066:0.0:0.0934:0.0	8.101	0.30015	457	0.78953	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	827.98	33	chr2	202983529	.	A	T	827.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.145e+00;DP=751;ExcessHet=0.0000;FS=9.174;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.83;ReadPosRankSum=0.811;SOR=0.176	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1171	20	0	1	0
chr2	203107870	203107870	A	G	exonic	NBEAL1	.	nonsynonymous SNV	NBEAL1:NM_001114132:exon13:c.A1544G:p.H515R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.136	B	0.05	B	.	.	0.986	N	0.69	N	-0.28	T	-0.895	T	0.170	T	0.448	2.326	13.74	3.12	0.995	2.723	10.254	0.239	0.0270874010741	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1370700925	1.427e-06	1.368e-06	1.408e-06	1.446e-06	1.258e-05	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.262e-07	0	1.258e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.004	0.74150	D	0.136	0.27347	B	0.05	0.25278	B	.	.	.	.	0.985883	0.24669	N	1.39	0.34934	L	-0.28	0.67543	T	-0.82	0.22508	N	0.505	0.53708	-0.8949	0.48493	T	0.170	0.51133	T	9	0.2899226	0.46573	T	0.027087	0.49938	D	0.239	0.54358	0.651	0.78858	0.468834750356	0.46508	0.6438290355816815	0.64317	0.143978961138	0.16260	0.451501131058	0.32149	T	0.001126	0.00635	T	-0.0204615	0.48789	T	-0.267168	0.48107	T	0.495499805880759	0.32465	T	0.859714	0.55187	D	0.15306692	0.34715	0.2220231	0.47032	0.15306692	0.34715	0.2220231	0.47031	-5.286	0.39804	T	.	.	0.388	0.58901	A	.	.	2.711480	0.35441	19.90	0.97749724376869052	0.35739	0.90326	0.51413	D	AEFGBI	0.248835	0.36917	N	-0.190737563891767	0.33518	1.902564	-0.0268865153707003	0.38506	2.269504	0.162643148249349	0.17617	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.84	3.12	0.34986	2.704000	0.46787	5.611000	0.49055	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.5415:0.0:0.0:0.4585	10.254	0.42566	346	0.85643	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1499.98	35	chr2	203107870	.	A	G	1499.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.578e+00;DP=809;ExcessHet=0.0000;FS=0.653;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=1.45;SOR=0.674	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1034	20	0	1	0
chr2	203416920	203416920	C	A	exonic	ABI2	.	nonsynonymous SNV	ABI2:NM_001375752:exon6:c.C689A:p.P230Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.585	M	1.02	T	-0.213	T	0.410	T	0.609	5.396	34	6.03	2.854	7.584	20.567	0.382	0.0317830442011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.033	0.54159	D	0.997	0.90584	D	0.961	0.82059	D	0.000000	0.84330	D	0.094349	1	0.81001	D	.	.	.	0.89	0.45636	T	-4.91	0.84525	D	0.613	0.62950	-0.2131	0.77333	T	0.410	0.75894	T	10	0.6373706	0.68859	D	0.031783	0.53784	D	0.382	0.69946	0.298	0.26362	0.526805192267	0.52328	0.564473779991695	0.56374	0.67219893905	0.59510	0.691882789135	0.65977	T	0.492888	0.81726	T	0.0360772	0.56528	T	-0.185954	0.55967	T	0.996000111103058	0.88484	D	0.883612	0.77652	D	.	.	.	.	.	.	.	.	-7.591	0.58248	D	.	.	0.104	0.44720	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.782852	0.54398	23.5	0.99454119999965596	0.65427	0.99449	0.96169	D	AEFDBI	0.886762	0.81843	D	0.85864621199167	0.89595	10.03655	0.857735840865173	0.93460	12.057	0.999999999999912	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	7.716000	0.83695	5.933000	0.51351	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	20.567	0.99354	282	0.88846	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	166.98	33	chr2	203416920	.	C	A	166.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.603e+00;DP=932;ExcessHet=0.0000;FS=80.557;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.69;ReadPosRankSum=1.51;SOR=6.807	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1410	20	0	1	0
chr2	203416965	203416965	C	A	exonic	ABI2	.	nonsynonymous SNV	ABI2:NM_001375752:exon6:c.C734A:p.P245H	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.94	D	0.002	N	1.000	D	1.845	L	1.28	T	-0.760	T	0.253	T	0.385	3.352	17.29	6.03	2.854	3.925	20.567	0.198	0.0262578418003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.029	0.65728	D	0.835	0.64070	P	0.701	0.62632	P	0.002167	0.37095	N	0.329134	0.998344	0.81001	D	.	.	.	0.96	0.47477	T	-5.02	0.92042	D	0.41	0.49783	-0.7601	0.57400	T	0.253	0.62349	T	10	0.3522545	0.52058	T	0.026258	0.49180	D	0.198	0.48105	0.323	0.30387	0.413703809202	0.40986	0.4315769627449175	0.43074	1.26271981833	0.82084	0.670385062695	0.62893	T	0.318647	0.69681	T	-0.0640842	0.42265	T	-0.329829	0.41489	T	0.979380667209625	0.72804	D	0.913009	0.93912	D	.	.	.	.	.	.	.	.	-10.873	0.78957	D	.	.	0.158	0.49979	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.159530	0.62453	24.5	0.99431543888586349	0.64276	0.95330	0.64301	D	AEFDBI	0.374369	0.45930	N	0.260109050856898	0.54140	3.580432	0.276406549159352	0.54163	3.582333	0.99861398571273	0.37309	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	4.034000	0.57000	5.991000	0.52331	0.587000	0.30956	0.945000	0.32849	1.000000	0.68203	0.331000	0.25224	0.0:1.0:0.0:0.0	20.567	0.99354	282	0.88846	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2138.98	33	chr2	203416965	.	C	A	2138.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.177e+00;DP=885;ExcessHet=0.0000;FS=5.246;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=-9.130e-01;SOR=0.420	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1410	20	0	1	0
chr2	204965294	204965294	T	C	exonic	PARD3B	.	nonsynonymous SNV	PARD3B:NM_001302769:exon3:c.T365C:p.I122T	.	.	426	1091	4	1	0	6	0.00274223	.	.	3210656	PARD3B-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.000	D	0.996	D	2.485	M	0.3	T	-0.217	T	0.337	T	0.986	3.929	19.99	5.8	2.209	5.505	16.143	0.415	0.0548689348061	0.0019	0.00199681	0.0023	0.0006	0.0015	0	0.0002	0.0033	0.0033	0.0017	0.002238	346	154602	rs74648966	0.0024	0.0025	0.0024	0.0025	0.0057	0.0024	0.0023	0.0042	0.0037	0.0004	0.0017	0.0038	0	0.0004	0.0057	0.0027	0.0022	0.0016	0.0020	0.0020	0.0019	0.0020	0.0032	0.0018	0.0017	0.0029	0.0028	0.0003	0.0011	0.0022	0.0035	0.0002	9.416e-05	0	0.0032	0.0033	0.0021	0.001	0.78490	D	0.001	0.92824	D	0.975	0.90584	D	0.86	0.92359	P	0.000000	0.84330	D	0.000000	0.996203	0.43074	D	2.11	0.58565	M	0.3	0.58755	T	-4.06	0.74582	D	0.975	0.98563	-0.2172	0.77226	T	0.337	0.70338	T	10	0.010484993	0.00233	T	0.054869	0.66018	D	0.415	0.72555	.	.	0.861367964963	0.86002	0.6547496311634985	0.65410	0.145806617952	0.16464	0.656763672829	0.60947	T	0.212451	0.60634	T	-0.0182705	0.49100	T	0.198558	0.83050	D	0.0419350455873676	0.04043	T	0.861414	0.60710	D	0.6504939	0.75391	0.6624212	0.80216	0.634693	0.74550	0.6008029	0.76809	-1.841	0.02931	T	.	.	0.771	0.78491	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.940836	0.57659	23.9	0.99847339584027672	0.92663	0.95160	0.63658	D	AEFI	0.631994	0.61277	D	0.707188750477897	0.80103	7.220911	0.689902912309069	0.81611	7.567517	0.977123163154121	0.29790	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.8	5.8	0.92081	5.505000	0.66698	7.908000	0.73883	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:0.0:1.0	16.143	0.81351	700	0.57880	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	740.98	34	chr2	204965294	.	T	C	740.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=806;ExcessHet=0.0000;FS=4.278;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.11;ReadPosRankSum=0.446;SOR=1.382	GT:AD:DP:GQ:PL	0/1:19,27:46:99:755,0,449	20	0	1	0
chr2	205615460	205615460	G	C	exonic	PARD3B	.	nonsynonymous SNV	PARD3B:NM_057177:exon22:c.G3058C:p.G1020R	.	.	416	1101	5	0	0	5	0.00226552	.	.	2266491	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.001	N	0.911	D	1.905	M	2.59	T	-0.912	T	0.104	T	0.49	2.134	13.09	4.29	0.910	5.017	13.191	0.186	0.016244658253	0.0002	0.000399361	0.0005	0.0002	0.0007	0	0	0.0007	0.0012	0	0.0004851	75	154602	rs193187748	0.0004	0.0004	0.0004	0.0004	0.0011	0.0003	0.0003	0.0009	0.0008	6.12e-05	0.0011	4.104e-05	0	3.795e-05	0.0011	0.0004	0.0004	7.277e-05	0.0004	0.0004	0.0003	0.0005	0.0016	0.0003	0.0003	0.0011	0.0010	4.814e-05	0	0.0016	0	0	0.0002	0	0.0004	0	0.0004	0.004	0.72154	D	0.011	0.64786	D	1.0	0.90584	D	0.999	0.92359	D	0.000633	0.42799	N	0.105398	0.911437	0.36422	D	2.57	0.75187	M	2.59	0.15843	T	-1.98	0.46146	N	0.53	0.73826	-0.9123	0.46569	T	0.104	0.38169	T	10	0.036987484	0.02027	T	0.016245	0.37414	T	0.186	0.46104	0.247	0.18293	0.469826472337	0.46610	0.31798902244741967	0.31711	0.19097760818	0.21418	0.599527895451	0.52837	T	0.010219	0.25277	T	-0.385048	0.02894	T	-0.376312	0.36154	T	0.0785529174815552	0.09801	T	0.945305	0.79188	D	0.09247276	0.21695	0.13827808	0.33028	0.09247276	0.21694	0.13827808	0.33028	-2.049	0.05053	T	.	.	0.246	0.48018	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.341217	0.46043	22.2	0.99555551238193229	0.71397	0.96227	0.68120	D	AEFBI	0.631197	0.61226	D	-0.0796649417544212	0.38284	2.239974	-0.0640798595359811	0.36887	2.152511	0.912262265444728	0.26390	0.623552	0.39893	0	0.59043	0.45803	0	0.602189	0.34648	0	0.579976	0.35079	0	.	.	6.07	4.29	0.50359	5.833000	0.69056	5.790000	0.49863	-0.642000	0.04431	1.000000	0.71638	1.000000	0.68203	0.000000	0.00833	0.1242:0.0:0.8758:0.0	13.191	0.59132	882	0.29131	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	961.98	33	chr2	205615460	.	G	C	961.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.048e+00;DP=783;ExcessHet=0.0000;FS=0.826;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=0.761;SOR=0.567	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1283	20	0	1	0
chr2	205723836	205723836	G	A	exonic	NRP2	.	nonsynonymous SNV	NRP2:NM_003872:exon5:c.G716A:p.R239H	.	.	423	1098	1	0	0	1	0.000455166	.	.	3213628	NRP2-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.991	D	0.000	D	1.000	D	0.895	L	1.59	T	-0.988	T	0.143	T	0.208	3.928	19.99	5.91	2.813	6.080	20.296	0.080	0.019257099256	0.0002	0.000199681	0.0005	0.0004	0.0046	0	0	6.01e-05	0	0	0.0004657	72	154602	rs201324375	0.0002	0.0002	0.0002	0.0001	0.0039	0.0001	0.0001	0.0034	0.0032	0.0005	0.0039	0	0	0	0.0005	2.968e-05	3.311e-05	0	0.0003	0.0003	0.0002	0.0003	0.0009	0.0002	0.0002	0.0006	0.0004	0.0006	0	0.0009	0	0	0	0	2.94e-05	0	0	0.048	0.40573	D	0.24	0.24477	T	1.0	0.90584	D	0.991	0.79672	D	0.000005	0.62929	D	0.158570	1	0.81001	D	0.465	0.13073	N	1.59	0.28836	T	-0.96	0.36385	N	0.138	0.13626	-0.9878	0.33151	T	0.143	0.46477	T	10	0.013714761	0.00290	T	0.019257	0.41574	T	0.080	0.23350	.	.	0.411265580357	0.40742	0.24311061999317893	0.24225	0.316868486577	0.33939	0.467344284058	0.34316	T	0.033136	0.22788	T	-0.496906	0.00595	T	-0.486418	0.23767	T	0.0511793119906041	0.05706	T	0.940606	0.86445	D	0.38600624	0.59747	0.33420715	0.59249	0.34918052	0.57003	0.37911484	0.62974	-4.875	0.35656	T	.	.	0.062	0.05890	B	.;.;.;.;.;.	.;.;.;.;.;.	4.330156	0.66345	24.9	0.99902073970429894	0.97350	0.95656	0.65601	D	AEFBI	0.766863	0.70291	D	0.221997652301905	0.52265	3.40186	0.396415997026196	0.61342	4.333135	0.999999999832165	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	6.139000	0.71482	7.589000	0.61191	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.656000	0.32857	0.0:0.0:1.0:0.0	20.296	0.98558	861	0.33516	CUB domain|CUB domain|CUB domain|CUB domain;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3431.98	35	chr2	205723836	.	G	A	3431.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.231;DP=936;ExcessHet=0.0000;FS=3.626;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.36;ReadPosRankSum=0.244;SOR=0.564	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1311	20	0	1	0
chr2	206009583	206009583	T	C	exonic	INO80D	.	nonsynonymous SNV	INO80D:NM_017759:exon9:c.A1754G:p.H585R,	.	.	427	1084	11	0	0	11	0.00504819	.	.	697261	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.6	T	0.0	B	0.0	B	0.199	N	1.000	N	0.69	N	1.54	T	-1.006	T	0.025	T	0.027	0.584	7.154	-0.695	-0.103	1.785	5.579	0.076	.	0.0071	0.00139776	0.0068	0.0014	0.0027	0	0.0153	0.0098	0.0078	0.0006	0.0065458	1012	154602	rs144598064	0.0080	0.0080	0.0080	0.0079	0.0097	0.0078	0.0078	0.0087	0.0086	0.0011	0.0038	0.0093	2.52e-05	0.0153	0.0097	0.0088	0.0073	0.0007	0.0086	0.0086	0.0080	0.0091	0.0118	0.0082	0.0080	0.0112	0.0109	0.0013	0.1075	0.0042	0.0110	0.0002	0.0212	0.0034	0.0118	0.0043	0.0010	0.586	0.05881	T	0.667	0.06365	T	0.0	0.02946	B	0.0	0.01387	B	0.198942	0.16650	N	0.655303	0.999969	0.18878	N	0.55	0.14455	N	1.54	0.30133	T	-0.97	0.25770	N	0.027	0.00571	-1.0057	0.28247	T	0.025	0.10777	T	10	0.0025288165	0.00038	T	.	.	.	0.076	0.22200	.	.	0.043077524339	0.03247	0.07182252728062584	0.07119	0.784832105031	0.65468	0.308417022228	0.11667	T	.	.	.	-0.679744	0.00048	T	-0.735556	0.04080	T	0.00176428672020891	0.00018	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00625	B	.	.	1.317035	0.17209	13.02	0.64866371886898355	0.07612	0.61749	0.31576	D	AEFBI	0.054014	0.09785	N	-0.945326735392604	0.09798	0.4653177	-0.866453346636752	0.12892	0.6658287	0.117059824760342	0.16792	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.8	-0.695	0.10723	1.959000	0.40036	0.555000	0.19457	-0.120000	0.14102	1.000000	0.71638	0.954000	0.29108	0.526000	0.29613	0.0:0.2813:0.1337:0.585	5.579	0.16523	638	0.64280	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1964.11	36	chr2	206009583	.	T	C	1964.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.75;DP=826;ExcessHet=0.1072;FS=0.575;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-2.720e-01;SOR=0.756	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1220	19	0	2	0
chr2	206176878	206176878	T	C	exonic	GPR1	.	nonsynonymous SNV	GPR1:NM_001098199:exon3:c.A370G:p.S124G	.	.	421	1091	10	0	0	10	0.00456204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.51	M	0.59	T	-0.301	T	0.298	T	0.895	4.558	24.7	5.84	2.234	7.907	16.231	0.703	.	0.0064	0.00159744	0.0061	0.0013	0.0025	0	0.0150	0.0087	0.0077	0.0005	0.0059831	925	154602	rs138365581	0.0074	0.0074	0.0075	0.0074	0.0092	0.0073	0.0073	0.0081	0.0081	0.0011	0.0037	0.0069	0	0.0148	0.0092	0.0083	0.0064	0.0007	0.0080	0.0080	0.0073	0.0087	0.0108	0.0076	0.0074	0.0102	0.0099	0.0013	0.1075	0.0039	0.0072	0.0002	0.0209	0	0.0108	0.0043	0.0010	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.02	0.86243	M	0.59	0.53943	T	-3.97	0.74051	D	0.893	0.93959	-0.3009	0.74960	T	0.298	0.66914	T	10	0.012977749	0.00277	T	.	.	.	0.703	0.89330	.	.	0.755102455759	0.75288	0.8912139918777888	0.89091	0.151885615318	0.17145	0.560574293137	0.47349	T	0.129223	0.45737	T	-0.0245722	0.48198	T	0.204901	0.83393	D	0.0213724906758188	0.00840	T	.	.	.	0.82972604	0.85883	0.82349724	0.89764	0.82972604	0.85884	0.82349724	0.89764	-8.391	0.63706	D	.	.	0.324	0.54890	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.617720	0.73299	26.0	0.9982713480748433	0.90939	0.98798	0.86991	D	AEFDBI	0.937266	0.93481	D	0.853602016231925	0.89314	9.920547	0.826704792878577	0.91586	10.96202	0.999999998353524	0.74766	0.615755	0.39536	0	0.573888	0.26702	0	0.602189	0.34648	0	0.526803	0.08958	0	.	.	5.84	5.84	0.93373	7.885000	0.85782	7.758000	0.68250	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	16.231	0.82165	717	0.55835	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1313.98	33	chr2	206176878	.	T	C	1313.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.140e-01;DP=1254;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=0.789;SOR=0.669	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr2	206304824	206304824	A	T	exonic	ZDBF2	.	nonsynonymous SNV	ZDBF2:NM_020923:exon5:c.A296T:p.D99V	.	.	427	1082	12	1	0	14	0.00642792	.	.	2982334	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.28	T	0.652	P	0.113	B	0.011	N	1.000	N	0.69	N	2.29	T	-1.025	T	0.026	T	0.353	0.659	7.532	1.49	0.649	-0.246	4.968	0.059	0.00150610793014	0.0009	0.00139776	0.0018	0	0.0011	0	0	0.0015	0.0022	0.0062	0.0016365	253	154602	rs149317779	0.0013	0.0013	0.0011	0.0015	0.0106	0.0013	0.0013	0.0085	0.0077	8.963e-05	0.0011	3.828e-05	2.519e-05	3.745e-05	0.0106	0.0010	0.0015	0.0075	0.0011	0.0011	0.0011	0.0010	0.0052	0.0009	0.0009	0.0036	0.0031	0.0003	0.0099	0.0012	0.0006	0	0	0.0102	0.0012	0.0033	0.0052	0.085	0.32769	T	0.033	0.53072	D	0.652	0.40767	P	0.113	0.31689	B	0.010663	0.01282	N	3.311150	1	0.08975	N	0.69	0.16971	N	2.29	0.17113	T	-1.64	0.39314	N	0.211	0.23506	-1.0246	0.22214	T	0.026	0.10954	T	10	0.005754322	0.00128	T	0.001506	0.02318	T	0.059	0.16972	.	.	0.209622950755	0.20551	0.039830665300983996	0.03929	0.341368232332	0.36070	0.259487062693	0.04830	T	0.01732	0.29940	T	-0.543983	0.00317	T	-0.550445	0.17284	T	0.0346557185982412	0.02749	T	.	.	.	0.10526064	0.24887	0.046848074	0.06619	0.10526064	0.24887	0.046848074	0.06618	-3.595	0.17785	T	.	.	0.111	0.26010	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.468404	0.08381	5.134	0.75972991080953822	0.11283	0.36710	0.25596	N	AEFBI	0.045790	0.07529	N	-0.832117958751698	0.12494	0.6093761	-0.974997277389136	0.10348	0.5206438	0.0099870363551659	0.11946	0.615465	0.37627	0	0.653731	0.59785	0	0.608884	0.39905	0	0.655142	0.61905	0	.	.	1.49	1.49	0.21966	-0.250000	0.08849	0.101000	0.14649	0.756000	0.94297	0.005000	0.17040	0.000000	0.08366	0.009000	0.08673	1.0:0.0:0.0:0.0	4.968	0.13450	885	0.28214	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1544.98	34	chr2	206304824	.	A	T	1544.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.056;DP=848;ExcessHet=0.0000;FS=3.409;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.43;ReadPosRankSum=0.204;SOR=0.559	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	20	0	1	0
chr2	206304914	206304914	A	G	exonic	ZDBF2	.	nonsynonymous SNV	ZDBF2:NM_020923:exon5:c.A386G:p.Q129R	.	.	432	1089	1	0	0	1	0.000458926	.	.	733082	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.46	T	0.001	B	0.001	B	0.014	N	1.000	N	0.895	L	2.32	T	-1.029	T	0.022	T	0.066	1.572	11.21	1.04	-0.001	1.356	3.876	0.023	0.00455120052973	0.0044	0.00199681	0.0029	0.0013	0.0018	0	0.0005	0.0042	0.0022	0.0015	0.0030724	475	154602	rs113954798	0.0052	0.0052	0.0054	0.0051	0.0062	0.0051	0.0051	0.0061	0.0061	0.0008	0.0025	0.0014	7.558e-05	0.0009	0.0005	0.0062	0.0062	0.0014	0.0035	0.0035	0.0037	0.0032	0.0060	0.0032	0.0031	0.0055	0.0053	0.0010	0	0.0043	0.0012	0	0.0003	0	0.0060	0.0019	0.0017	0.207	0.19854	T	0.285	0.23231	T	0.001	0.07471	B	0.001	0.04355	B	0.013823	0.01374	N	2.918020	1	0.08975	N	0.895	0.22405	L	2.32	0.16640	T	-1.29	0.32387	N	0.069	0.04188	-1.0290	0.20778	T	0.022	0.09284	T	10	0.0059749186	0.00134	T	0.004551	0.11220	T	0.023	0.04649	.	.	0.0846915920261	0.08053	0.02509220189559391	0.02460	0.0610700711973	0.06795	0.234301790595	0.02301	T	0.00573	0.17579	T	-0.682737	0.00046	T	-0.749755	0.03495	T	0.00408790035651783	0.00043	T	.	.	.	0.021973027	0.00830	0.040447157	0.04372	0.021973027	0.00830	0.040447157	0.04372	-3.592	0.17742	T	.	.	0.078	0.10883	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.676867	0.10455	7.172	0.9570937643052051	0.27615	0.09593	0.15314	N	AEFBI	0.057297	0.10661	N	-0.956651110609235	0.09544	0.4521581	-0.965009043567714	0.10577	0.5335823	0.00518236218977497	0.10855	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.655142	0.61905	0	.	.	4.86	1.04	0.19220	1.430000	0.34522	1.901000	0.29582	0.756000	0.94297	0.100000	0.22794	0.543000	0.25426	0.360000	0.25886	0.5978:0.0:0.1367:0.2654	3.876	0.08562	885	0.28214	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1454.98	34	chr2	206304914	.	A	G	1454.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.677e+00;DP=877;ExcessHet=0.0000;FS=2.522;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.86;ReadPosRankSum=-9.720e-01;SOR=0.873	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	20	0	1	0
chr2	206305194	206305194	C	A	exonic	ZDBF2	.	nonsynonymous SNV	ZDBF2:NM_020923:exon5:c.C666A:p.N222K	.	.	432	1061	27	2	0	31	0.0143985	.	.	2109272	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.08	T	0.447	B	0.146	B	0.027	N	1.000	N	1.5	L	2.34	T	-1.016	T	0.029	T	0.137	4.129	21.3	2.23	0.153	0.774	1.398	0.037	0.0115230301471	0.0002	0.00159744	0.0017	0.0001	0.0022	0	0	0.0006	0.0034	0.0084	0.0014942	231	154602	rs200044367	0.0009	0.0009	0.0006	0.0012	0.0094	0.0009	0.0008	0.0088	0.0086	5.974e-05	0.0010	0.0013	5.038e-05	1.873e-05	0.0080	0.0003	0.0011	0.0094	0.0006	0.0006	0.0004	0.0008	0.0070	0.0005	0.0004	0.0052	0.0045	2.405e-05	0	0.0010	0.0009	0.0002	0	0.0068	0.0004	0.0009	0.0070	0.023	0.48186	D	0.158	0.31629	T	0.447	0.36006	B	0.146	0.33945	B	0.027166	0.25800	N	0.188694	1	0.08975	N	1.75	0.45442	L	2.34	0.16351	T	-3.28	0.65627	D	0.327	0.37197	-1.0159	0.25045	T	0.029	0.12278	T	10	0.0061847568	0.00139	T	0.011523	0.29227	T	0.037	0.09474	0.177	0.08379	0.194818534648	0.19098	0.08912010333343588	0.08845	0.162359928004	0.18315	0.281682133675	0.07728	T	0.049049	0.39302	T	-0.6015	0.00143	T	-0.630675	0.10364	T	0.0336020536051496	0.02571	T	.	.	.	0.13841118	0.32012	0.12605263	0.30363	0.13841118	0.32012	0.12605263	0.30362	-2.662	0.06989	T	.	.	0.216	0.47816	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.613284	0.20610	14.83	0.99684880871400117	0.79507	0.42900	0.26980	N	AEFBI	0.062519	0.12022	N	-0.231030919698507	0.31868	1.791223	-0.199562780340314	0.31554	1.78676	0.00761789160899349	0.11507	0.722319	0.85440	0	0.698795	0.70079	0	0.65145	0.50148	0	0.655142	0.61905	0	.	.	5.11	2.23	0.27189	-0.024000	0.12382	0.521000	0.19165	0.599000	0.40250	0.004000	0.16614	0.805000	0.26985	0.961000	0.51904	0.308:0.3827:0.1422:0.167	1.398	0.02128	885	0.28214	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3987.11	193	chr2	206305194	.	C	A	3987.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.39;DP=1806;ExcessHet=0.1072;FS=1.810;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=-5.960e-01;SOR=0.600	GT:AD:DP:GQ:PL	0/0:86,0:86:99:0,120,1800	19	0	2	0
chr2	206306635	206306635	C	T	exonic	ZDBF2	.	nonsynonymous SNV	ZDBF2:NM_020923:exon5:c.C2107T:p.R703C	.	.	431	1090	1	0	0	1	0.000458505	.	.	2355262	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.143	B	0.003	B	0.573	N	1.000	N	0	N	0.93	T	-1.016	T	0.045	T	0.13	-0.062	3.698	-7.97	-1.652	-0.553	8.868	0.032	0.00577191341456	.	0.000399361	7.501e-05	0	0	0.0003	0	0	0.0011	0.0003	7.12e-05	11	154602	rs184921981	5.748e-05	5.746e-05	5.718e-05	5.777e-05	0.0004	4.744e-05	4.367e-05	0.0002	0.0002	0	0.0001	0	0.0004	0	0.0002	2.968e-05	6.627e-05	0.0003	5.256e-05	5.251e-05	5.143e-05	5.374e-05	0.0008	2.557e-05	1.83e-05	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0.0008	0.104	0.29959	T	0.054	0.47097	T	0.143	0.27649	B	0.003	0.08700	B	0.573088	0.05491	N	1.289450	1	0.08975	N	0	0.06538	N	0.93	0.44065	T	0.22	0.04694	N	0.091	0.06990	-1.0155	0.25175	T	0.045	0.19234	T	10	0.013024062	0.00278	T	0.005772	0.14982	T	0.032	0.07718	.	.	0.110078149338	0.10416	0.05888926746992743	0.05829	0.0915855860622	0.10345	0.240398108959	0.02827	T	0.002163	0.06315	T	-0.513002	0.00483	T	-0.670121	0.07600	T	0.0831001400947571	0.10379	T	.	.	.	0.046945326	0.07941	0.03292648	0.02105	0.046945326	0.07941	0.03292648	0.02104	-2.027	0.03284	T	.	.	0.089	0.13409	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.582184	0.09507	6.284	0.80449250645767001	0.13208	0.01486	0.04939	N	AEFBI	0.049274	0.08495	N	-1.66247654391204	0.00984	0.0426325	-1.76124332711768	0.00891	0.03985588	0.99872791527109	0.37539	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.579976	0.35079	0	.	.	4.42	-7.97	0.01007	-0.564000	0.06027	0.009000	0.13411	-0.598000	0.04625	0.010000	0.18352	0.000000	0.08366	0.003000	0.05239	0.1956:0.2429:0.5615:0.0	8.868	0.34458	875	0.30485	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1734.98	106	chr2	206306635	.	C	T	1734.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.27;DP=1683;ExcessHet=0.0000;FS=0.669;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.11;ReadPosRankSum=0.579;SOR=0.601	GT:AD:DP:GQ:PL	0/0:86,0:86:99:0,120,1800	20	0	1	0
chr2	206308643	206308643	A	G	exonic	ZDBF2	.	nonsynonymous SNV	ZDBF2:NM_020923:exon5:c.A4115G:p.D1372G	.	.	.	.	.	.	.	.	.	.	.	2286579	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	0.675	P	0.186	B	.	.	1.000	N	1.525	L	0.58	T	-1.040	T	0.103	T	0.094	1.136	9.628	0.044	0.002	0.056	5.707	0.045	0.0121377284832	.	.	5.832e-05	0	0.0003	0	0	4.522e-05	0.0011	0	4.53e-05	7	154602	rs747341384	4.999e-05	4.994e-05	4.769e-05	5.231e-05	0.0014	4.063e-05	3.738e-05	0.0007	0.0005	2.987e-05	0.0003	0	0	0	0.0014	3.958e-05	9.94e-05	0	2.629e-05	2.627e-05	2.57e-05	2.691e-05	0.0002	8.14e-06	5.14e-06	5.289e-05	2.836e-05	0	0	0.0002	0	0	0	0	1.47e-05	0	0	0.121	0.27783	T	0.106	0.37872	T	0.675	0.41275	P	0.186	0.36104	B	.	.	.	.	1	0.08975	N	2.175	0.60977	M	0.58	0.54149	T	-3.5	0.68178	D	0.066	0.06720	-1.0398	0.17374	T	0.103	0.38069	T	9	0.099188596	0.17983	T	0.012138	0.30444	T	0.045	0.12272	0.157	0.06070	0.305730143919	0.30178	0.07278984605443199	0.07215	0.224327558168	0.24967	0.276559889317	0.07018	T	0.028315	0.33914	T	-0.439016	0.01311	T	-0.566671	0.15756	T	0.130620658397675	0.15440	T	.	.	.	0.076360874	0.17266	0.08782761	0.20439	0.076360874	0.17265	0.08782761	0.20439	-3.911	0.22467	T	.	.	0.102	0.21503	B	.;.;.;.	.;.;.;.	0.545565	0.09141	5.924	0.92398512855108461	0.21810	0.02254	0.06525	N	AEFBI	0.032979	0.03827	N	-0.708036008027068	0.15795	0.7991936	-0.872214299424559	0.12754	0.6579114	9.25399853482627E-5	0.04910	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.579976	0.35079	0	.	.	3.63	0.044	0.13543	0.203000	0.17113	0.843000	0.22062	0.756000	0.94297	0.000000	0.06391	0.006000	0.19429	0.021000	0.11733	0.6349:0.0:0.365:0.0	5.707	0.17184	902	0.24074	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1557.98	86	chr2	206308643	.	A	G	1557.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.417;DP=1346;ExcessHet=0.0000;FS=0.593;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.12;ReadPosRankSum=1.87;SOR=0.757	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,120,1800	20	0	1	0
chr2	206310599	206310599	G	C	exonic	ZDBF2	.	nonsynonymous SNV	ZDBF2:NM_020923:exon5:c.G6071C:p.G2024A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.97	T	0.021	B	0.007	B	.	.	1.000	N	0.69	N	0.87	T	-1.006	T	0.056	T	0.029	-0.726	0.890	0.382	0.050	0.808	9.836	0.042	0.00768241760897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.623	0.05262	T	1.0	0.01155	T	0.021	0.18474	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	0.87	0.46412	T	0.7	0.02163	N	0.047	0.03502	-1.0056	0.28277	T	0.056	0.23488	T	9	0.03392774	0.01583	T	0.007682	0.20378	T	0.042	0.11227	0.192	0.10304	0.126345400529	0.12197	0.025058173669435076	0.02456	0.294698014369	0.31886	0.210206285119	0.00820	T	6.93E-4	0.04506	T	-0.364765	0.03868	T	-0.761736	0.03051	T	0.0203166686583257	0.00731	T	.	.	.	0.0346535	0.03931	0.036905523	0.03233	0.0346535	0.03930	0.036905523	0.03232	-2.998	0.10159	T	.	.	0.087	0.18497	B	.;.;.	.;.;.	0.821247	0.11926	8.487	0.17601757231432108	0.00520	0.00118	0.00744	N	AEFBI	0.017821	0.00495	N	-1.15399047296367	0.05714	0.2612435	-1.16933868876274	0.06427	0.3093611	1.47152857466608E-5	0.02871	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.579976	0.35079	0	.	.	4.29	0.382	0.15457	0.643000	0.24440	0.961000	0.22991	0.676000	0.76740	0.007000	0.17678	0.000000	0.08366	0.020000	0.11549	0.0:0.4724:0.4482:0.0794	9.836	0.40135	903	0.23940	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1471.98	43	chr2	206310599	.	G	C	1471.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.120e-01;DP=1036;ExcessHet=0.0000;FS=2.581;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.57;ReadPosRankSum=0.266;SOR=0.749	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr2	206445465	206445465	T	G	exonic	ADAM23	.	nonsynonymous SNV	ADAM23:NM_003812:exon2:c.T373G:p.S125A,	.	.	428	1075	19	0	0	19	0.0087598	.	.	697266	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.75	T	0.392	B	0.173	B	0.001	D	0.995	D	1.59	L	4.61	T	-0.906	T	0.006	T	0.303	2.132	13.09	4.78	1.054	5.833	12.517	0.154	0.0180538436402	0.0082	0.00179712	0.0050	0.0047	0.0026	0	0.0002	0.0076	0.0044	0.0012	0.0049805	770	154602	rs112012170	0.0061	0.0061	0.0063	0.0060	0.0142	0.0060	0.0060	0.0117	0.0108	0.0044	0.0028	0.0095	0	0.0007	0.0142	0.0070	0.0066	0.0013	0.0058	0.0058	0.0060	0.0056	0.0074	0.0055	0.0054	0.0069	0.0067	0.0059	0.0011	0.0058	0.0072	0	9.434e-05	0.0136	0.0074	0.0057	0.0008	0.296	0.14694	T	0.096	0.40267	T	0.392	0.34646	B	0.173	0.35463	B	0.000764	0.41888	D	0.000000	0.994944	0.42480	D	1.5	0.37844	L	4.61	0.01851	T	-1.42	0.34992	N	0.477	0.51851	-0.9058	0.47355	T	0.006	0.02055	T	10	0.0100236535	0.00224	T	0.018054	0.39980	T	0.154	0.40340	.	.	0.256237801699	0.25221	0.28698604468155353	0.28611	0.246457987376	0.27182	0.552425503731	0.46200	T	0.152794	0.49335	T	-0.511479	0.00492	T	-0.500942	0.22251	T	0.0228014413347231	0.01000	T	0.769523	0.39899	T	0.08802651	0.20520	0.06453053	0.12947	0.08802651	0.20519	0.06453053	0.12947	-4.263	0.27655	T	.	.	0.090	0.16054	B	.;.	.;.	3.116238	0.42050	21.5	0.98204040563044281	0.39149	0.94652	0.61868	D	AEFDBI	0.523575	0.54712	D	-0.183656896248011	0.33816	1.922784	-0.0396415167583486	0.37942	2.228468	0.999996670099584	0.74766	0.706298	0.61202	0	0.383324	0.06291	0	0.383324	0.06259	0	0.613276	0.41899	0	.	.	5.95	4.78	0.60666	5.831000	0.69032	1.926000	0.29741	-0.171000	0.11205	1.000000	0.71638	0.994000	0.32194	0.978000	0.57271	0.1252:0.0:0.0:0.8748	12.517	0.55383	823	0.40596	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1215.98	36	chr2	206445465	.	T	G	1215.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.040e-01;DP=872;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.81;ReadPosRankSum=-1.587e+00;SOR=0.737	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1169	20	0	1	0
chr2	206596141	206596141	C	G	exonic	ADAM23	.	nonsynonymous SNV	ADAM23:NM_003812:exon24:c.C2338G:p.P780A,	.	.	436	1047	38	1	0	40	0.0187441	.	.	707968	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.74	T	0.001	B	0.002	B	0.189	N	1.000	N	0.75	N	4.69	T	-0.896	T	0.004	T	0.264	1.963	12.52	2.8	1.513	1.165	1.474	0.075	.	0.0025	0.00219649	0.0037	0.0006	0.0013	0.0007	0.0005	0.0035	0.0034	0.0110	0.0031759	491	154602	rs113518350	0.0030	0.0030	0.0028	0.0033	0.0156	0.0029	0.0029	0.0130	0.0120	0.0004	0.0019	0.0027	0.0007	0.0005	0.0156	0.0027	0.0037	0.0098	0.0023	0.0023	0.0020	0.0027	0.0112	0.0021	0.0021	0.0088	0.0080	0.0003	0	0.0031	0.0029	0	0.0004	0.0068	0.0032	0.0047	0.0112	0.085	0.43085	T	0.121	0.45318	T	0.001	0.07471	B	0.002	0.06944	B	0.188914	0.16899	N	0.537999	1	0.08975	N	-0.065	0.04868	N	4.69	0.01756	T	-1.03	0.39119	N	0.275	0.31140	-0.8956	0.48427	T	0.004	0.01192	T	10	0.0063527524	0.00143	T	.	.	.	0.075	0.21907	.	.	0.21174354426	0.20776	0.5654258129172468	0.56469	0.507152935348	0.48901	0.340717852116	0.16545	T	0.115572	0.43425	T	-0.550485	0.00290	T	-0.556545	0.16704	T	0.00918458632121738	0.00116	T	0.79722	0.44094	T	0.020270461	0.00579	0.026779955	0.00787	0.020270461	0.00579	0.026779955	0.00787	-4.039	0.24385	T	.	.	0.060	0.00876	B	.;.	.;.	1.127572	0.15138	11.62	0.97459621468008473	0.34074	0.12727	0.17443	N	AEFI	0.090498	0.18338	N	-0.577601829998057	0.19627	1.02865	-0.435499062123879	0.23963	1.309616	1.8076587734271E-4	0.05786	0.732398	0.92422	0	0.659464	0.62310	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.91	2.8	0.31881	1.049000	0.30001	3.952000	0.40682	0.599000	0.40250	0.000000	0.06391	0.999000	0.35428	0.607000	0.31564	0.31:0.3962:0.12:0.1737	1.474	0.02275	833	0.38804	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	908.98	34	chr2	206596141	.	C	G	908.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.815e+00;DP=779;ExcessHet=0.0000;FS=5.620;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=-3.070e-01;SOR=0.407	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1066	20	0	1	0
chr2	206644624	206644624	C	A	exonic	FAM237A	.	nonsynonymous SNV	FAM237A:NM_001102659:exon2:c.C388A:p.P130T,	.	.	419	1095	8	0	0	8	0.00363967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0050	0.000599042	0.0045	0.0018	0.0028	0	0.0004	0.0067	0.0045	0.0012	0.0034993	541	154602	rs202031652	0.0044	0.0043	0.0045	0.0042	0.0057	0.0043	0.0042	0.0050	0.0049	0.0010	0.0024	0.0074	0	0.0006	0.0057	0.0051	0.0038	0.0007	0.0035	0.0035	0.0036	0.0034	0.0052	0.0033	0.0032	0.0046	0.0044	0.0017	0	0.0052	0.0078	0	0.0002	0.0102	0.0050	0.0038	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0080114305	0.00182	T	.	.	.	.	.	.	.	.	.	0.06515831057279708	0.06454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.442056	0.12263	T	0.03311266	0.03467	0.06592949	0.13434	0.03311266	0.03467	0.06592949	0.13434	-3.261	0.13239	T	.	.	0.072	0.04316	B	.	.	0.587555	0.09560	6.336	0.7509209369219324	0.10942	0.61616	0.31537	D	AEFBCI	.	.	.	.	.	.	.	.	.	1.24450205978909E-5	0.02871	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.286808	0.34293	5.82	-0.0896	0.13004	1.660000	0.37013	0.167000	0.15474	-0.182000	0.10109	0.986000	0.36153	0.000000	0.08366	0.371000	0.26133	0.1603:0.1889:0.1602:0.4905	1.286	0.01927	733	0.53988	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	866.98	34	chr2	206644624	.	C	A	866.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.340e-01;DP=771;ExcessHet=0.0000;FS=0.900;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.84;ReadPosRankSum=-9.560e-01;SOR=0.873	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1414	20	0	1	0
chr2	206699838	206699838	T	A	exonic	DYTN	.	nonsynonymous SNV	DYTN:NM_001093730:exon7:c.A608T:p.E203V,	.	.	259	1252	10	1	0	12	0.00476948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.993	D	.	.	0.879	D	2.695	M	-1.11	T	0.278	D	0.526	D	0.632	3.273	16.99	3.58	2.254	2.499	9.305	0.552	.	0.0078	0.00319489	0.0045	0.0122	0.0026	0	0.0003	0.0055	0.0045	0.0009	0.0044243	684	154602	rs112735024	0.0047	0.0047	0.0049	0.0045	0.0121	0.0046	0.0045	0.0111	0.0107	0.0121	0.0028	0.0071	0	0.0007	0.0061	0.0051	0.0048	0.0008	0.0064	0.0064	0.0066	0.0062	0.0112	0.0061	0.0060	0.0103	0.0100	0.0112	0	0.0080	0.0078	0	0.0002	0.0102	0.0050	0.0057	0.0008	0.0	0.91255	D	0.011	0.64786	D	1.0	0.90584	D	0.993	0.81110	D	.	.	.	.	0.878551	0.35703	D	3.17	0.88688	M	-1.11	0.77466	T	-6.8	0.92903	D	0.832	0.82761	0.278	0.87205	D	0.526	0.82341	D	9	0.02470392	0.00689	T	.	.	.	0.552	0.81485	.	.	0.511848488485	0.50826	0.708085109289546	0.70750	0.226483481589	0.25203	0.377892464399	0.21956	T	0.364069	0.72971	T	-0.201713	0.20559	T	-0.0514926	0.66920	D	0.0439928075966002	0.04419	T	0.763424	0.38984	T	0.8583708	0.87962	0.78635484	0.87420	0.8583708	0.87963	0.78635484	0.87421	-10.889	0.79046	D	.	.	0.461	0.62737	A	.	.	4.558976	0.71827	25.7	0.99255046660654556	0.57022	0.91798	0.54285	D	AEFDBI	0.408735	0.48029	N	0.57657401683614	0.71712	5.693109	0.491407842478898	0.67417	5.081541	0.387803493288083	0.20018	0.500041	0.20204	0	0.59043	0.45803	0	0.624306	0.44879	0	0.444512	0.06955	0	.	.	5.89	3.58	0.40133	1.994000	0.40377	6.078000	0.53320	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.081000	0.17303	0.0:0.1712:0.0:0.8288	9.305	0.37031	795	0.45444	EF-hand domain, type 2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2111.98	37	chr2	206699838	.	T	A	2111.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.263e+00;DP=890;ExcessHet=0.0000;FS=0.555;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=0.264;SOR=0.758	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1156	20	0	1	0
chr2	206755303	206755303	G	A	exonic	MDH1B	.	nonsynonymous SNV	MDH1B:NM_001330223:exon4:c.C322T:p.R108C	.	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.989	D	0.827	P	0.064	N	0.661	N	1.39	L	0.86	T	-0.915	T	0.176	T	0.196	2.286	13.60	-1.32	-0.308	-0.035	4.476	0.092	0.0148335117565	0.0014	0.000199681	0.0010	0.0003	0.0013	0.0003	0	0.0014	0.0022	6.058e-05	0.0009056	140	154602	rs145046021	0.0011	0.0011	0.0012	0.0011	0.0029	0.0011	0.0011	0.0019	0.0015	0.0003	0.0017	0.0061	0.0002	5.616e-05	0.0029	0.0011	0.0015	5.797e-05	0.0011	0.0010	0.0010	0.0011	0.0037	0.0009	0.0009	0.0029	0.0026	0.0003	0	0.0037	0.0069	0.0004	0	0.0068	0.0009	0.0024	0	0.205	0.20683	T	0.184	0.48336	T	0.981	0.62824	D	0.676	0.59428	P	0.064421	0.02178	N	1.757560	0.999984	0.30448	N	2.14	0.59869	M	0.86	0.46777	T	-1.61	0.46503	N	0.13	0.13055	-0.9153	0.46181	T	0.176	0.51974	T	10	0.010273159	0.00229	T	0.014834	0.35199	T	0.092	0.26621	.	.	0.210429274316	0.20668	0.26658220524002735	0.26571	0.141817654033	0.15982	0.205161303282	0.00622	T	0.073	0.34519	T	-0.541218	0.00330	T	-0.563429	0.16056	T	0.00856084793407556	0.00104	T	0.407159	0.10452	T	0.0712441	0.15757	0.043342166	0.05370	0.0712441	0.15756	0.043342166	0.05369	-5.533	0.42176	T	.	.	0.071	0.07177	B	.;.;.	.;.;.	1.652345	0.21080	15.04	0.97665035259008759	0.35218	0.14606	0.18491	N	AEFBI	0.306431	0.41358	N	-0.968383565573294	0.09284	0.4387876	-1.14354706171626	0.06884	0.3329203	0.370882644056615	0.19869	0.638212	0.43195	0	0.610034	0.51514	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	5.68	-1.32	0.08721	-0.002000	0.12858	0.560000	0.19502	-1.791000	0.00638	0.006000	0.17386	0.032000	0.21310	0.007000	0.07825	0.2591:0.1696:0.4851:0.0862	4.476	0.11160	829	0.39537	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1029.98	37	chr2	206755303	.	G	A	1029.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=779;ExcessHet=0.0000;FS=0.840;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.20;ReadPosRankSum=-1.450e-01;SOR=0.807	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1082	20	0	1	0
chr2	206962424	206962424	C	A	exonic	CPO	.	nonsynonymous SNV	CPO:NM_173077:exon7:c.C587A:p.S196Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	3.47	M	1.15	T	-0.249	T	0.319	T	0.838	2.590	14.62	5.5	2.868	6.956	16.943	0.421	0.0480340154308	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.995	0.83170	D	0.000001	0.62929	D	0.058674	0.999526	0.47407	D	4.16	0.97626	H	1.15	0.38236	T	-5.64	0.86914	D	0.785	0.78167	-0.2488	0.76392	T	0.319	0.68857	T	10	0.87911665	0.87215	D	0.048034	0.63192	D	0.421	0.73005	0.643	0.78010	0.608871453904	0.60573	0.8683413226907841	0.86799	0.550974970066	0.51951	0.45094037056	0.32073	T	0.050549	0.28626	T	0.20759	0.74604	D	0.0604121	0.74272	D	0.997319996356964	0.91263	D	0.79572	0.43862	T	0.926505	0.93888	0.8709938	0.92934	0.926505	0.93889	0.8709938	0.92935	-12.016	0.84930	D	.	.	0.805	0.77527	P	.	.	3.510695	0.49159	22.7	0.99020933166018554	0.50569	0.99089	0.91063	D	AEFBI	0.697354	0.65539	D	0.7188586308737	0.80866	7.390829	0.564905314945932	0.72439	5.810264	0.999961377938106	0.48965	0.549168	0.22868	0	0.573888	0.26702	0	0.618467	0.43123	0	0.616125	0.45549	0	.	.	5.5	5.5	0.81386	7.075000	0.76485	2.010000	0.30161	0.524000	0.24156	1.000000	0.71638	0.509000	0.25247	0.085000	0.17524	0.0:1.0:0.0:0.0	16.943	0.86092	272	0.89337	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase O	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	750.98	33	chr2	206962424	.	C	A	750.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.408e+00;DP=755;ExcessHet=0.0000;FS=7.342;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=0.241;SOR=0.212	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr2	207976867	207976867	C	T	exonic	PLEKHM3	.	nonsynonymous SNV	PLEKHM3:NM_001080475:exon3:c.G1330A:p.A444T,	.	.	433	1081	7	1	0	9	0.00414556	.	.	2379077	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	1.495	L	2.56	T	-0.619	T	0.316	T	0.786	5.072	31	5.57	2.612	7.085	19.548	0.090	0.0190962533871	8.2e-05	.	9.113e-05	0	8.651e-05	0	0	7.494e-05	0	0.0003	7.12e-05	11	154602	rs201268173	6.225e-05	6.225e-05	5.309e-05	7.15e-05	0.0012	5.161e-05	4.78e-05	0.0006	0.0004	0	0.0002	0	0	0	0.0012	4.317e-05	0.0002	0.0002	9.197e-05	9.193e-05	6.422e-05	0.0001	0.0005	5.527e-05	4.364e-05	0.0003	0.0002	0	0	0.0005	0	0	0	0	7.348e-05	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.215	0.62545	M	2.56	0.13673	T	-2.76	0.58569	D	0.841	0.83678	-0.6192	0.64022	T	0.316	0.68575	T	10	0.71842	0.73499	D	0.019096	0.41369	T	0.395	0.71004	.	.	0.317526407968	0.31361	0.5609466324766768	0.56021	0.624344103429	0.56642	0.621729671955	0.55974	T	0.69713	0.91246	D	-0.127587	0.31888	T	-0.124854	0.61402	T	0.6705482006073	0.39362	D	.	.	.	0.6926386	0.77655	0.68618435	0.81546	0.6926386	0.77656	0.68618435	0.81547	-7.908	0.60442	D	.	.	0.446	0.62003	A	.;.	.;.	4.458588	0.69369	25.4	0.99943744546614399	0.99868	0.98871	0.87966	D	AEFBI	0.759830	0.69804	D	0.436936300156282	0.63466	4.580863	0.531066759721349	0.70090	5.454498	0.99999999993828	0.74766	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.57	5.57	0.84021	7.165000	0.77109	7.728000	0.67649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.548	0.95299	739	0.53257	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1949.98	35	chr2	207976867	.	C	T	1949.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.005e+00;DP=830;ExcessHet=0.0000;FS=2.201;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.00;ReadPosRankSum=-1.120e-01;SOR=0.580	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1262	20	0	1	0
chr2	208124183	208124183	C	A	exonic	CRYGD	.	nonsynonymous SNV	CRYGD:NM_006891:exon2:c.G181T:p.G61C,	Cataract 4, multiple types, Autosomal dominant	.	1	1513	7	1	0	9	0.0029654	.	.	612375	High_myopia|Aculeiform_cataract|not_specified	Human_Phenotype_Ontology:HP:0000569,Human_Phenotype_Ontology:HP:0011003,MedGen:C0271183|Human_Phenotype_Ontology:HP:0010926,MedGen:C1861832|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	U	1.000	D	4.255	H	-3.34	D	1.083	D	0.934	D	0.959	3.238	16.85	4.35	2.245	3.732	14.400	0.890	0.480295520724	.	0.000399361	0.0004	0.0022	0.0007	0.0001	0.0002	9.508e-05	0.0012	0.0007	0.0003687	57	154602	rs150857132	0.0003	0.0003	0.0003	0.0003	0.0019	0.0003	0.0003	0.0015	0.0014	0.0019	0.0009	3.828e-05	0.0006	3.786e-05	0.0009	0.0002	0.0005	0.0008	0.0009	0.0009	0.0009	0.0009	0.0020	0.0008	0.0007	0.0017	0.0015	0.0020	0	0.0017	0	0.0017	0	0	0.0001	0.0005	0.0012	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	U	0.000000	1	0.81001	D	4.335	0.98404	H	-3.34	0.93975	D	-8.62	0.97496	D	0.894	0.89353	1.083	0.98974	D	0.934	0.97839	D	10	0.8649771	0.85736	D	0.480296	0.94830	D	0.890	0.96836	.	.	0.971415806667	0.97110	0.8639262326446062	0.86356	0.91937406981	0.71397	0.489978194237	0.37435	T	0.874574	0.97319	D	0.188978	0.72870	D	0.493129	0.94469	D	0.223583431498506	0.21641	T	.	.	.	0.9839782	0.99398	0.9222859	0.96558	0.9839782	0.99398	0.9222859	0.96559	-12.919	0.89026	D	.	.	0.847	0.79595	P	.	.	3.498325	0.48928	22.7	0.99745039141813074	0.83778	0.98347	0.81862	D	AEFDBI	0.789676	0.71880	D	0.698254764658041	0.79516	7.094465	0.508805880472586	0.68580	5.239877	0.999999999714344	0.74766	0.72623	0.87236	0	0.563428	0.19063	0	0.594344	0.31042	0	0.63947	0.58350	0	.	.	4.35	4.35	0.51454	3.938000	0.56295	1.790000	0.28791	0.469000	0.21855	0.986000	0.36153	0.968000	0.29604	0.037000	0.13953	0.0:1.0:0.0:0.0	14.400	0.66603	870	0.31527	Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1776.11	34	chr2	208124183	.	C	A	1776.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.93;DP=837;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.24;MQRankSum=-3.761e+00;QD=10.45;ReadPosRankSum=0.139;SOR=0.731	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1162	19	0	2	0
chr2	208325530	208325530	G	A	exonic	PIKFYVE	.	nonsynonymous SNV	PIKFYVE:NM_015040:exon20:c.G2719A:p.G907S,	Corneal fleck dystrophy, Autosomal dominant	.	1	1519	2	0	0	2	0.000657895	.	.	2446616	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.071	N	1.000	N	-1.265	N	1.97	T	-0.953	T	0.015	T	0.076	-2.409	0.003	2.41	0.180	1.461	6.780	0.043	0.00390705278577	.	.	8.245e-06	0	0	0	0	0	0	6.062e-05	6.5e-06	1	154602	rs778006745	8.209e-06	8.209e-06	9.529e-06	6.876e-06	2.319e-05	4.38e-06	3.46e-06	3.85e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	3.312e-05	2.319e-05	1.314e-05	1.313e-05	0	2.69e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	1.0	0.00964	T	0.822	0.03806	T	0.0	0.02946	B	0.0	0.01387	B	0.070624	0.21526	N	0.503195	1	0.08975	N	-1.32	0.00691	N	1.8	0.25344	T	0.7	0.02163	N	0.084	0.06059	-0.9531	0.40433	T	0.015	0.05849	T	10	0.024237126	0.00660	T	0.003907	0.09211	T	0.043	0.11576	.	.	0.184605227958	0.18053	0.10285224839541972	0.10215	0.282886675705	0.30743	0.304707437754	0.11106	T	0.126004	0.45209	T	-0.390984	0.02651	T	-0.702544	0.05687	T	0.0135227684033918	0.00248	T	0.488051	0.14953	T	0.028534705	0.02207	0.030220596	0.01451	0.028534705	0.02206	0.030220596	0.01451	-2.706	0.07354	T	.	.	0.070	0.05756	B	.;.	.;.	-0.207414	0.03053	0.472	0.316208132109074	0.01791	0.00462	0.02227	N	AEFBI	0.030388	0.03052	N	-1.57152167461194	0.01413	0.06160218	-1.43121033476136	0.02944	0.1364314	0.221562522937304	0.18361	0.719381	0.83141	0	0.723133	0.82719	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	6.07	2.41	0.28644	1.653000	0.36940	1.053000	0.23654	-1.612000	0.00879	0.007000	0.17678	0.013000	0.20296	0.000000	0.00833	0.7362:0.1286:0.1352:0.0	6.780	0.22827	826	0.39940	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3280.98	46	chr2	208325530	.	G	A	3280.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=1100;ExcessHet=0.0000;FS=5.993;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.32;ReadPosRankSum=0.076;SOR=0.597	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	20	0	1	0
chr2	209678637	209678637	C	A	exonic	MAP2	.	nonsynonymous SNV	MAP2:NM_001363911:exon5:c.C328A:p.Q110K	.	.	420	1093	9	0	0	9	0.00410023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	T	0.997	D	0.99	D	0.000	D	1.000	D	0.695	N	2.03	T	-1.113	T	0.074	T	0.616	5.003	29.4	5.04	2.315	6.555	18.412	0.196	0.015733869454	0.0004	0.000599042	0.0004	0	0.0003	0	0	0.0006	0	0.0002	0.0003363	52	154602	rs138065981	0.0005	0.0005	0.0005	0.0006	0.0059	0.0005	0.0005	0.0044	0.0038	0.0001	0.0003	0.0003	0	0	0.0059	0.0006	0.0007	0.0004	0.0004	0.0004	0.0004	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	7.223e-05	0	0.0005	0.0006	0	0	0	0.0006	0.0009	0.0002	0.001	0.91255	D	0.923	0.92824	T	0.997	0.70673	D	0.977	0.78936	D	0.000088	0.51296	D	0.000000	0.999917	0.51042	D	2.175	0.60977	M	2.03	0.20959	T	-0.57	0.67241	N	0.456	0.54757	-1.1130	0.02824	T	0.074	0.30023	T	10	0.055562258	0.06092	T	0.015734	0.36624	T	0.196	0.47777	.	.	0.268702046668	0.26493	0.39222613536877304	0.39137	0.411919561254	0.41941	0.77146166563	0.77643	T	0.434603	0.78163	T	-0.257727	0.13167	T	-0.250499	0.49767	T	0.0715834465914999	0.08871	T	0.978627	0.92475	D	0.36543626	0.58246	0.2970841	0.55741	0.36543626	0.58246	0.2970841	0.55741	-3.15	0.11879	T	.	.	0.222	0.51891	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.475762	0.69783	25.4	0.99587142264947204	0.73395	0.98265	0.81073	D	AEFGI	0.752294	0.69284	D	0.358737731209353	0.59202	4.097746	0.427853965149935	0.63305	4.56179	0.999999861544069	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.04	5.04	0.67293	6.494000	0.73569	5.898000	0.50850	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.412	0.90499	830	0.39242	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	529.98	34	chr2	209678637	.	C	A	529.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.394;DP=727;ExcessHet=0.0000;FS=1.100;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.82;ReadPosRankSum=-3.810e-01;SOR=0.963	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1077	20	0	1	0
chr2	210205678	210205678	C	G	exonic	ACADL	.	nonsynonymous SNV	ACADL:NM_001608:exon6:c.G722C:p.G241A,	.	.	1	1501	20	0	0	20	0.00661813	.	.	584608	Long_chain_acyl-CoA_dehydrogenase_deficiency|not_specified|not_provided	MONDO:MONDO:0020531,MedGen:C0220711|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.999	D	0.97	D	0.000	D	1.000	D	3.455	M	-5.89	D	1.020	D	0.987	D	0.854	4.697	26.0	5.28	2.479	7.244	18.927	0.921	0.63598817047	0.0004	0.000998403	0.0016	9.619e-05	0.0033	0	0	0.0015	0.0044	0.0033	0.0014489	224	154602	rs146511220	0.0010	0.0010	0.0009	0.0012	0.0285	0.0010	0.0010	0.0249	0.0235	0.0008	0.0028	0.0076	0	0	0.0285	0.0005	0.0020	0.0037	0.0010	0.0010	0.0011	0.0010	0.0035	0.0009	0.0009	0.0022	0.0018	0.0002	0	0.0024	0.0081	0	0	0.0102	0.0008	0.0047	0.0035	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.75	0.95014	H	-5.89	0.99422	D	-5.68	0.87223	D	0.925	0.92901	1.020	0.97542	D	0.987	0.99627	D	10	0.09855232	0.17825	T	0.635988	0.96886	D	0.921	0.98003	.	.	0.989258733682	0.98913	0.8871817779027943	0.88687	0.870941214275	0.69394	0.596519589424	0.52413	T	0.964385	0.99563	D	0.177404	0.71805	D	0.481532	0.94224	D	0.141457641080211	0.16401	T	0.998278	0.99180	D	0.90376395	0.91722	0.87441087	0.93172	0.90376395	0.91723	0.87441087	0.93172	-12.863	0.88791	D	.	.	0.386	0.58779	A	.	.	4.719728	0.75909	26.4	0.99859088192806411	0.93729	0.97986	0.78653	D	AEFI	0.939429	0.94001	D	0.951513222882751	0.94044	12.46159	0.877547582407522	0.94517	12.824	0.999999513392346	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.28	5.28	0.74118	7.340000	0.78530	5.970000	0.51981	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.927	0.92523	703	0.57489	Acyl-CoA oxidase/dehydrogenase, central domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	748.98	34	chr2	210205678	.	C	G	748.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.576;DP=776;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.02;ReadPosRankSum=-6.270e-01;SOR=0.664	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1241	20	0	1	0
chr2	210291065	210291065	T	C	exonic	MYL1	.	nonsynonymous SNV	MYL1:NM_079420:exon6:c.A566G:p.K189R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.0	B	0.002	B	0.000	D	1.000	D	0.84	L	-1.29	T	-0.690	T	0.292	T	0.134	1.890	12.28	6.08	2.333	2.149	11.645	0.243	0.015442459798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.547	0.08787	T	0.452	0.12884	T	0.0	0.02946	B	0.001	0.06944	B	0.000007	0.62929	D	0.141627	0.999992	0.58761	D	2.005	0.54552	M	-1.29	0.79475	T	-1.46	0.35792	N	0.218	0.24385	-0.6898	0.60917	T	0.292	0.66364	T	10	0.22886354	0.39801	T	0.015442	0.36172	T	0.243	0.54921	0.386	0.40624	0.753458437225	0.75122	0.2651397306930992	0.26426	0.0644160972155	0.07180	0.76157605648	0.76163	T	0.373956	0.73785	T	-0.101735	0.36138	T	-0.383912	0.35265	T	0.695697963237762	0.40514	D	0.881612	0.60121	D	0.10950137	0.25888	0.1310562	0.31478	0.10950137	0.25888	0.1310562	0.31477	-6.702	0.56422	T	0.13629439084320075	0.14893	0.087	0.15341	B	.;.	.;.	3.447104	0.47979	22.5	0.99057055031425245	0.51390	0.96391	0.68909	D	AEFBI	0.599679	0.59261	D	-0.183051472774483	0.33841	1.924526	0.0497082618002768	0.42056	2.537296	0.999570245264226	0.40495	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.08	6.08	0.98982	3.319000	0.51694	6.110000	0.53654	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0684:0.0:0.9316	11.645	0.50517	603	0.67726	.;EF-hand domain|EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	574.98	34	chr2	210291065	.	T	C	574.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.891;DP=710;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.73;ReadPosRankSum=1.89;SOR=0.610	GT:AD:DP:GQ:PL	0/1:24,25:49:99:589,0,515	20	0	1	0
chr2	213056961	213056961	T	C	exonic	IKZF2	.	nonsynonymous SNV	IKZF2:NM_001371274:exon4:c.A278G:p.N93S	.	.	420	1067	34	1	0	36	0.0165899	.	.	707998	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.61	T	0.008	B	0.011	B	0.000	N	1.000	D	0	N	3.41	T	-1.096	T	0.020	T	0.159	0.712	7.791	4.86	1.101	1.619	12.101	0.052	.	0.0084	0.0103834	0.0064	0.0107	0.0036	0.0047	0.0009	0.0062	0.0066	0.0099	0.0064165	992	154602	rs16849611	0.0061	0.0061	0.0058	0.0064	0.0231	0.0060	0.0059	0.0199	0.0187	0.0121	0.0045	0.0116	0.0064	0.0019	0.0231	0.0055	0.0078	0.0107	0.0073	0.0073	0.0078	0.0069	0.0112	0.0070	0.0068	0.0104	0.0101	0.0112	0	0.0060	0.0104	0.0037	0.0008	0.0340	0.0060	0.0114	0.0095	0.603	0.14645	T	0.337	0.20877	T	0.004	0.12183	B	0.002	0.12133	B	0.000226	0.47286	N	0.145743	0.994994	0.81001	D	0.57	0.15267	N	3.24	0.43672	T	-0.18	0.17624	N	0.193	0.22098	-1.0960	0.04611	T	0.020	0.08266	T	10	0.0036978126	0.00068	T	.	.	.	0.052	0.14661	.	.	0.082315109003	0.07666	0.10670747703549179	0.10600	0.0087491305882	0.00795	0.470510661602	0.34751	T	0.131431	0.46091	T	-0.541428	0.00329	T	-0.540113	0.18285	T	0.00385367496300789	0.00041	T	0.875013	0.58582	D	0.024288576	0.01246	0.03923809	0.03972	0.024288576	0.01245	0.03923809	0.03972	-2.171	0.05060	T	.	.	0.111	0.21390	B	.;.;.;.;.;.	.;.;.;.;.;.	1.886281	0.23959	16.22	0.68962542578719044	0.08821	0.75521	0.36981	D	AEFBI	0.391359	0.46983	N	-0.56094061792294	0.20142	1.059648	-0.30721768233779	0.27865	1.549292	0.999986397201172	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.597571	0.31856	0	0.620846	0.47308	0	.	.	6.02	4.86	0.62624	1.672000	0.37139	1.558000	0.27338	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0667:0.0:0.9333	12.101	0.53083	911	0.21964	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2368.98	35	chr2	213056961	.	T	C	2368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.771;DP=927;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.56;ReadPosRankSum=0.647;SOR=0.729	GT:AD:DP:GQ:PL	0/1:107,98:205:99:2383,0,2634	20	0	1	0
chr2	214809467	214809467	C	T	exonic	BARD1	.	nonsynonymous SNV	BARD1:NM_000465:exon1:c.G103A:p.A35T	.	YES	.	.	.	.	.	.	.	.	.	152693	Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.4	T	0.244	B	0.039	B	0.022	N	1.000	D	1.83	L	-0.8	T	-0.586	T	0.395	T	0.134	4.239	22.1	2.16	1.020	0.235	5.003	0.189	0.507807750043	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs587782865	6.856e-07	1.368e-06	0	1.378e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.34800	T	0.395	0.92824	T	0.244	0.31025	B	0.039	0.23607	B	0.021801	0.26758	N	0.409226	0.966421	0.81001	D	1.65	0.42232	L	-0.8	0.85320	T	-0.66	0.19085	N	0.127	0.21449	-0.5864	0.65364	T	0.395	0.74822	T	10	0.17375475	0.32218	T	0.507808	0.95254	D	0.189	0.46613	0.086	0.00867	0.919638224799	0.91882	0.4010686405369734	0.40021	0.169635432466	0.19127	0.727155208588	0.71091	T	0.055216	0.29943	T	-0.0625415	0.42509	T	-0.327613	0.41734	T	0.306891918182373	0.25286	T	0.922308	0.71859	D	0.1703427	0.37603	0.14095776	0.33583	0.1703427	0.37603	0.14095776	0.33582	-4.883	0.37378	T	.	.	0.174	0.52293	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.974323	0.39654	21.0	0.998558161105078	0.93458	0.35967	0.25424	N	ALL	0.108958	0.21658	N	-0.255759901827886	0.30874	1.72569	-0.185048627629466	0.32084	1.821959	0.99999999999724	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.99	2.16	0.26663	0.244000	0.17899	2.503000	0.33037	0.524000	0.24156	0.998000	0.41325	1.000000	0.68203	0.686000	0.33718	0.17:0.6351:0.0:0.1948	5.003	0.13619	869	0.31655	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1394.98	33	chr2	214809467	.	C	T	1394.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.060e-01;DP=859;ExcessHet=0.0000;FS=3.081;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.04;ReadPosRankSum=0.714;SOR=0.453	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1185	20	0	1	0
chr2	214934127	214934127	G	A	exonic	ABCA12	.	nonsynonymous SNV	ABCA12:NM_015657:exon44:c.C6677T:p.T2226I	Ichthyosis, congenital, autosomal recessive 4A, Autosomal recessive;Ichthyosis, congenital, autosomal recessive 4B (harlequin), Autosomal recessive	.	1	1516	4	1	0	6	0.00197498	.	.	719581	not_provided|Congenital_ichthyosis_of_skin|ABCA12-related_disorder	MedGen:C3661900|MedGen:C0020758|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.09	T	0.518	P	0.462	P	0.136	N	1.000	D	1.7	L	-1.72	D	-0.010	T	0.542	D	0.429	3.353	17.29	5.59	2.797	1.043	14.268	0.352	0.0377526259987	0.0020	0.00119808	0.0014	0.0003	0.0013	0	0.0002	0.0021	0	0.0007	0.0015006	232	154602	rs146834697	0.0024	0.0024	0.0024	0.0023	0.0056	0.0023	0.0023	0.0040	0.0035	0.0004	0.0019	0.0003	0	0.0001	0.0056	0.0028	0.0024	0.0005	0.0014	0.0014	0.0015	0.0013	0.0024	0.0013	0.0012	0.0021	0.0020	0.0004	0	0.0022	0.0003	0	9.423e-05	0.0034	0.0024	0.0014	0.0004	0.039	0.43393	D	0.035	0.52389	D	0.228	0.37483	B	0.14	0.46509	B	0.136249	0.18453	N	0.555420	0.63487	0.30667	N	1.425	0.35738	L	-1.72	0.83241	D	-3.12	0.63782	D	0.242	0.27316	-0.0097	0.82056	T	0.542	0.83146	D	10	0.015284419	0.00321	T	0.037753	0.57812	D	0.352	0.67326	.	.	0.701912758934	0.69933	0.3462876169233124	0.34542	0.197728138392	0.22142	0.46284943819	0.33701	T	0.483917	0.81145	T	-0.285099	0.10135	T	-0.185352	0.56023	T	0.0475143686642646	0.05056	T	0.592041	0.21827	T	0.11353767	0.26813	0.14413582	0.34231	0.10964388	0.25920	0.14422622	0.34248	-5.057	0.37452	T	0.3099596069436688	0.40780	0.088	0.17317	B	.;.	.;.	2.750442	0.36054	20.1	0.99847061573211404	0.92663	0.33027	0.24728	N	AEFDIJ	0.139222	0.26075	N	0.0506207718956736	0.44171	2.696058	0.124801669836326	0.45821	2.838526	0.0122582802688855	0.12301	0.693126	0.56070	0	0.659464	0.62310	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.59	5.59	0.84677	0.920000	0.28325	8.686000	0.78060	0.676000	0.76740	0.065000	0.21925	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8505:0.1495	14.268	0.65682	869	0.31655	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	488.98	33	chr2	214934127	.	G	A	488.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.102;DP=731;ExcessHet=0.0000;FS=1.154;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=0.720;SOR=0.895	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1367	20	0	1	0
chr2	214990845	214990845	T	A	exonic	ABCA12	.	nonsynonymous SNV	ABCA12:NM_015657:exon16:c.A2527T:p.M843L	Ichthyosis, congenital, autosomal recessive 4A, Autosomal recessive;Ichthyosis, congenital, autosomal recessive 4B (harlequin), Autosomal recessive	YES	0	1515	7	0	0	7	0.00230491	.	.	612594	Congenital_ichthyosis_of_skin|not_provided|ABCA12-related_disorder	MedGen:C0020758|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.854	P	0.406	B	0.000	D	1.000	D	0.885	L	-1.83	D	-0.338	T	0.335	T	0.676	0.940	8.830	5.91	2.263	5.135	16.347	0.414	0.0207983570593	0.0011	0.00219649	0.0016	0.0026	8.637e-05	0	0	0.0007	0.0011	0.0070	0.0013842	214	154602	rs141077206	0.0007	0.0007	0.0006	0.0009	0.0059	0.0007	0.0007	0.0055	0.0053	0.0017	0.0003	0.0060	0	0	0.0028	0.0002	0.0011	0.0059	0.0011	0.0011	0.0010	0.0011	0.0062	0.0009	0.0009	0.0045	0.0039	0.0019	0	0.0011	0.0043	0	0	0.0034	0.0003	0.0009	0.0062	0.89	0.02483	T	0.286	0.21277	T	0.854	0.47077	P	0.406	0.44683	B	0.000000	0.84330	D	0.000000	0.963155	0.38332	D	0.35	0.11930	N	-1.83	0.84122	D	-0.64	0.18670	N	0.519	0.54932	-0.3384	0.73890	T	0.335	0.70223	T	10	0.0123568475	0.00266	T	0.020798	0.43464	T	0.414	0.72479	0.43	0.47843	0.768038034916	0.76591	0.7767034198133183	0.77620	0.233930618868	0.25932	0.53394818306	0.43591	T	0.252747	0.62318	T	-0.187099	0.22685	T	-0.0387803	0.67784	D	0.0445759225380742	0.04524	T	0.814918	0.46941	T	0.42291313	0.62285	0.22326474	0.47199	0.40988615	0.61411	0.25103292	0.50706	-2.465	0.05547	T	0.2979373927463504	0.39509	0.235	0.47016	B	.;.	.;.	3.465486	0.48318	22.6	0.88152865332527308	0.17756	0.92263	0.55310	D	AEFGI	0.511323	0.54000	D	0.00241462213294483	0.41965	2.519734	0.187456525975822	0.49157	3.122493	0.171636058248568	0.17744	0.638212	0.43195	0	0.670034	0.63936	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.91	5.91	0.95240	5.116000	0.64498	7.897000	0.73349	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.0:0.0:1.0	16.347	0.82972	840	0.37365	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1589.98	34	chr2	214990845	.	T	A	1589.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.111e+00;DP=829;ExcessHet=0.0000;FS=2.259;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=-1.796e+00;SOR=0.821	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1263	20	0	1	0
chr2	215011645	215011645	A	G	exonic	ABCA12	.	nonsynonymous SNV	ABCA12:NM_015657:exon9:c.T1172C:p.M391T	Ichthyosis, congenital, autosomal recessive 4A, Autosomal recessive;Ichthyosis, congenital, autosomal recessive 4B (harlequin), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.029	B	0.028	B	0.017	N	1.000	D	0.55	N	-2.3	D	-0.399	T	0.429	T	0.505	1.185	9.820	5.28	2.127	5.486	13.015	0.368	0.0705776854373	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1305898894	3.421e-06	3.42e-06	4.084e-06	2.75e-06	4.497e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.37750	T	0.002	0.79402	D	0.029	0.19866	B	0.019	0.21332	B	0.016772	0.27892	N	0.349673	0.608341	0.32599	D	1.5	0.37844	L	-2.31	0.87750	D	-1.32	0.32991	N	0.341	0.39962	-0.3987	0.72068	T	0.429	0.77173	T	10	0.31070635	0.48546	T	0.070578	0.71041	D	0.368	0.68757	0.417	0.45709	0.756346533954	0.75413	0.7126344256086378	0.71205	0.228942827075	0.25452	0.497549325228	0.38486	T	0.149215	0.48812	T	0.0798106	0.62018	D	-0.123134	0.61545	T	0.180509870325262	0.19267	T	0.656934	0.26653	T	0.19473584	0.41235	0.19033487	0.42431	0.19473584	0.41235	0.19033487	0.42430	-4.133	0.25775	T	0.11768709802947898	0.10779	0.125	0.29367	B	.;.	.;.	2.240007	0.28600	17.85	0.93316308879528076	0.23035	0.98410	0.82490	D	AEFI	0.407035	0.47928	N	-0.182281790770321	0.33874	1.926745	-0.00337634151229583	0.39564	2.347663	0.398246248882696	0.20107	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.28	5.28	0.74118	5.763000	0.68467	11.216000	0.89583	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.348000	0.25613	1.0:0.0:0.0:0.0	13.015	0.58157	888	0.27761	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1558.98	13	chr2	215011645	.	A	G	1558.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.084;DP=535;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.34;ReadPosRankSum=-1.504e+00;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:27,0:27:72:.:.:0,72,1080	20	0	1	0
chr2	215025738	215025738	A	G	exonic	ABCA12	.	nonsynonymous SNV	ABCA12:NM_015657:exon3:c.T268C:p.S90P	Ichthyosis, congenital, autosomal recessive 4A, Autosomal recessive;Ichthyosis, congenital, autosomal recessive 4B (harlequin), Autosomal recessive	YES	6	1507	8	1	0	10	0.00330688	.	.	612595	not_provided|ABCA12-related_disorder|Congenital_ichthyosis_of_skin	MedGen:C3661900|.|MedGen:C0020758	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.002	B	0.006	B	0.299	N	1.000	D	0.205	N	0.59	T	-1.094	T	0.058	T	0.196	1.560	11.17	2.28	0.466	0.791	7.240	0.013	.	7.7e-05	0.00259585	0.0015	0	8.655e-05	0	0	0.0002	0.0011	0.0096	0.0012678	196	154602	rs189141015	0.0007	0.0007	0.0004	0.0009	0.0081	0.0007	0.0006	0.0076	0.0074	2.988e-05	0.0004	0	0	0	0.0030	0.0002	0.0008	0.0081	0.0005	0.0005	0.0005	0.0006	0.0091	0.0004	0.0004	0.0070	0.0062	4.832e-05	0	0.0010	0	0	0	0.0034	0.0003	0.0005	0.0091	0.213	0.19430	T	0.243	0.25210	T	0.001	0.09854	B	0.002	0.12133	B	0.298807	0.14635	N	0.659470	0.954376	0.26371	N	0.55	0.14455	N	0.59	0.53943	T	-0.88	0.27876	N	0.192	0.21056	-1.0937	0.04944	T	0.058	0.24167	T	10	0.004335612	0.00088	T	.	.	.	0.013	0.01715	.	.	0.465633601861	0.46191	0.5242788157450186	0.52351	0.230863346288	0.25632	0.37533518672	0.21594	T	0.073936	0.34819	T	-0.514878	0.00471	T	-0.50639	0.21688	T	0.00618400272459661	0.00068	T	0.510149	0.16261	T	0.22495826	0.45148	0.19881599	0.43732	0.21770963	0.44260	0.24011555	0.49377	-4.976	0.36579	T	.	.	0.177	0.38640	B	.;.	.;.	1.742373	0.22170	15.51	0.98008265306819853	0.37536	0.48581	0.28239	N	AEFI	0.153102	0.27790	N	-0.616353740891183	0.18452	0.9581336	-0.430063257629103	0.24120	1.319045	2.67201773703917E-5	0.03498	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.96	2.28	0.27583	0.793000	0.26604	1.105000	0.24105	-0.041000	0.17446	0.999000	0.42656	0.472000	0.25058	0.974000	0.55675	0.7505:0.0:0.2495:0.0	7.240	0.25269	868	0.31772	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1174.98	41	chr2	215025738	.	A	G	1174.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.380e-01;DP=953;ExcessHet=0.0000;FS=3.300;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.79;ReadPosRankSum=0.560;SOR=0.886	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1450	20	0	1	0
chr2	215052509	215052509	G	A	exonic	ABCA12	.	nonsynonymous SNV	ABCA12:NM_173076:exon5:c.C485T:p.A162V,	Ichthyosis, congenital, autosomal recessive 4A, Autosomal recessive;Ichthyosis, congenital, autosomal recessive 4B (harlequin), Autosomal recessive	.	1	1512	8	1	0	10	0.00329598	.	.	237268	Congenital_ichthyosis_of_skin|ABCA12-related_disorder|not_specified|not_provided	MedGen:C0020758|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.25	T	0.047	B	0.016	B	0.867	N	0.927	N	0	N	-2.39	D	-0.611	T	0.426	T	0.247	2.017	12.70	3.66	2.657	1.294	11.217	0.150	0.0318633706881	0.0013	.	0.0014	0.0003	0.0014	0	0.0005	0.0019	0	0.0015	0.0013971	216	154602	rs149399707	0.0016	0.0016	0.0016	0.0016	0.0018	0.0015	0.0015	0.0017	0.0017	8.982e-05	0.0011	0	0	0.0003	0.0012	0.0018	0.0015	0.0016	0.0012	0.0012	0.0014	0.0010	0.0022	0.0011	0.0010	0.0019	0.0018	0.0002	0	0.0016	0	0	9.436e-05	0	0.0022	0.0005	0.0008	0.162	0.23541	T	0.093	0.39799	T	0.047	0.21998	B	0.016	0.17743	B	0.866559	0.08856	N	0.934548	1	0.08975	N	0.69	0.16971	N	-2.39	0.88377	D	-0.5	0.15782	N	0.387	0.42834	-0.6110	0.64362	T	0.426	0.76930	T	10	0.013969272	0.00295	T	0.031863	0.53843	D	0.150	0.39571	.	.	0.694820110243	0.69219	0.35602791091231367	0.35516	0.193823953599	0.21719	0.326494276524	0.14404	T	0.078328	0.35865	T	-0.348238	0.04839	T	-0.278854	0.46921	T	0.0106047394186227	0.00148	T	0.746125	0.36682	T	0.06397504	0.13525	0.103321336	0.24786	0.0752097	0.16929	0.09846268	0.23476	-4.29	0.28037	T	.	.	0.117	0.23640	B	.	.	2.002179	0.25439	16.76	0.98784209932930445	0.46175	0.26493	0.23009	N	AEFDGBIJ	0.065318	0.12733	N	-0.415398532101686	0.24928	1.349595	-0.248536800068874	0.29821	1.673956	0.993275159844092	0.33152	0.594549	0.33734	0	0.486142	0.07564	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.64	3.66	0.41111	1.318000	0.33249	2.425000	0.32705	0.676000	0.76740	0.209000	0.24412	0.064000	0.22093	0.954000	0.50415	0.0:0.0:0.7363:0.2637	11.217	0.48062	812	0.42537	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1221.98	39	chr2	215052509	.	G	A	1221.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.400e-02;DP=820;ExcessHet=0.0000;FS=2.287;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.47;ReadPosRankSum=-3.260e-01;SOR=0.922	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1212	20	0	1	0
chr2	215326838	215326838	C	A	exonic	ATIC	.	nonsynonymous SNV	ATIC:NM_004044:exon7:c.C548A:p.A183E,	AICA-ribosiduria due to ATIC deficiency, Autosomal recessive	.	0	1514	8	0	0	8	0.00263505	.	.	626124	not_specified|AICA-ribosiduria|not_provided	MedGen:CN169374|MONDO:MONDO:0012099,MedGen:C1837530,OMIM:608688,Orphanet:250977|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	4.17	H	-2.04	D	0.913	D	0.842	D	0.916	4.012	20.6	4.98	2.776	5.879	14.088	0.807	0.150357449039	.	.	4.118e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs761526509	2.052e-05	2.121e-05	1.225e-05	2.888e-05	0.0005	1.456e-05	1.264e-05	0.0002	0.0001	0	0	0	0	0	0.0005	2.698e-06	3.312e-05	0.0003	3.289e-05	3.284e-05	5.143e-05	1.347e-05	0.0004	1.262e-05	7.99e-06	7.304e-05	3.034e-05	0	0	0.0002	0	0	0	0	0	0	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000001	0.84330	D	0.095649	1	0.81001	D	4.56	0.99153	H	-2.04	0.85703	D	-3.85	0.77470	D	0.959	0.96984	0.913	0.95862	D	0.842	0.94736	D	10	0.96437967	0.95893	D	0.150357	0.83205	D	0.807	0.93738	0.898	0.97685	0.888681746581	0.88758	0.9286232411049514	0.92840	0.371772515195	0.38677	0.784096539021	0.79546	T	0.778806	0.94142	D	0.238566	0.77524	D	0.405231	0.92283	D	0.993683695793152	0.84585	D	0.979435	0.93081	D	0.9780326	0.98956	0.97068566	0.99494	0.9780326	0.98956	0.97068566	0.99495	-10.544	0.77162	D	0.6226121154954786	0.69113	0.609	0.76063	P	.;.;.	.;.;.	5.080511	0.84782	28.4	0.99284000632848757	0.58008	0.97486	0.75060	D	AEFBCI	0.777974	0.71061	D	0.796513834400809	0.85886	8.712509	0.621582110174223	0.76509	6.504297	0.99999997842518	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.86	4.98	0.65679	6.076000	0.70901	5.824000	0.50107	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.9276:0.0:0.0724	14.088	0.64499	741	0.52966	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1314.98	36	chr2	215326838	.	C	A	1314.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.550e-01;DP=913;ExcessHet=0.0000;FS=2.456;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.64;ReadPosRankSum=-8.080e-01;SOR=1.000	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr2	215409718	215409718	G	A	exonic	FN1	.	nonsynonymous SNV	FN1:NM_001306129:exon15:c.C2144T:p.T715M	Glomerulopathy with fibronectin deposits 2, Autosomal dominant;Plasma fibronectin deficiency, Autosomal dominant	.	0	1512	10	0	0	10	0.00329598	.	.	747275	not_provided|FN1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.974	D	0.001	D	1.000	D	1.905	M	2.26	T	-0.602	T	0.254	T	0.63	3.683	18.71	3.94	0.836	7.539	13.034	0.206	0.0387114186206	0.0007	0.00119808	0.0008	0.0002	8.651e-05	0.0001	0.0002	0.0003	0	0.0042	0.000705	109	154602	rs144664306	0.0007	0.0007	0.0006	0.0008	0.0039	0.0006	0.0006	0.0036	0.0035	5.974e-05	4.472e-05	0	5.038e-05	1.872e-05	0.0005	0.0006	0.0005	0.0039	0.0003	0.0003	0.0002	0.0004	0.0042	0.0002	0.0002	0.0028	0.0023	7.224e-05	0	0	0	0	0	0	0.0004	0.0005	0.0042	0.002	0.78490	D	0.005	0.79402	D	0.998	0.90584	D	0.633	0.73157	P	0.000804	0.41658	D	0.166645	1	0.81001	D	2.19	0.61577	M	0.67	0.52187	T	-2.07	0.47344	N	0.496	0.67132	-0.6015	0.64755	T	0.254	0.62417	T	10	0.0104394555	0.00232	T	0.038711	0.58383	D	0.206	0.49396	.	.	0.780839778774	0.77882	0.6019847696214725	0.60129	0.789902996822	0.65725	0.527711987495	0.42713	T	0.585211	0.86478	D	-0.264842	0.12338	T	-0.153074	0.58971	T	0.122750235119381	0.14697	T	0.978602	0.93484	D	0.10003566	0.23616	0.14089577	0.33571	0.109017305	0.25774	0.120453514	0.29067	-6.676	0.51923	T	0.6952085388865592	0.77347	0.133	0.32054	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.280496	0.65203	24.8	0.99897276261759749	0.96971	0.98691	0.85635	D	AEFBCI	0.959780	0.98027	D	0.472123559484764	0.65468	4.826384	0.421720033540646	0.62922	4.515933	0.999999935087166	0.74766	0.722319	0.85440	0	0.547309	0.14657	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.81	3.94	0.44807	7.630000	0.82398	8.579000	0.77638	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.813000	0.38311	0.0:0.124:0.7468:0.1292	13.034	0.58269	866	0.32446	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2027.98	39	chr2	215409718	.	G	A	2027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.53;DP=839;ExcessHet=0.0000;FS=3.963;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=2.34;SOR=0.861	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1185	20	0	1	0
chr2	215419286	215419286	C	T	exonic	FN1	.	nonsynonymous SNV	FN1:NM_001306129:exon12:c.G1775A:p.R592H	Glomerulopathy with fibronectin deposits 2, Autosomal dominant;Plasma fibronectin deficiency, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	708013	Chronic_kidney_disease|not_provided	Human_Phenotype_Ontology:HP:0000106,Human_Phenotype_Ontology:HP:0001918,Human_Phenotype_Ontology:HP:0008671,Human_Phenotype_Ontology:HP:0012622,MONDO:MONDO:0005300,MedGen:C1561643|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.996	D	0.000	D	1.000	D	1.61	L	0.91	T	-0.829	T	0.211	T	0.561	5.010	29.5	6.06	2.882	4.036	13.772	0.179	0.0128955107959	0.0023	0.000599042	0.0037	0.0006	0.0006	0	0.0091	0.0053	0.0033	0.0012	0.0033764	522	154602	rs147831535	0.0028	0.0028	0.0029	0.0027	0.0031	0.0027	0.0027	0.0030	0.0030	0.0002	0.0005	0.0001	0.0001	0.0069	0.0005	0.0031	0.0019	0.0011	0.0021	0.0021	0.0019	0.0022	0.0033	0.0019	0.0018	0.0029	0.0028	0.0004	0	0.0007	0	0	0.0051	0	0.0033	0.0024	0.0015	0.041	0.53900	D	0.085	0.42261	T	0.998	0.90584	D	0.623	0.83170	P	0.000266	0.46590	D	0.091904	0.999982	0.58761	D	1.61	0.41143	L	0.91	0.44856	T	-0.72	0.24244	N	0.586	0.64563	-0.8294	0.53339	T	0.211	0.57067	T	10	0.015008301	0.00315	T	0.012896	0.31871	T	0.179	0.44899	.	.	0.801889373885	0.80004	0.23171762284513261	0.23086	1.01917520793	0.75045	0.611265778542	0.54494	T	0.200251	0.55777	T	-0.368483	0.03672	T	-0.301673	0.44548	T	0.0229380171943639	0.01017	T	0.966303	0.97864	D	0.21841252	0.44348	0.113940194	0.27501	0.17307109	0.38033	0.12706754	0.30593	-6.499	0.50278	T	0.16216808832029225	0.19902	0.124	0.28721	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.828578	0.78718	27.0	0.99943859222440889	0.99868	0.83226	0.42361	D	AEFDBHCIJ	0.649276	0.62380	D	0.624252992920057	0.74711	6.179396	0.673440140472904	0.80365	7.283156	0.999999999999566	0.74766	0.722319	0.85440	0	0.588015	0.36545	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	6.06	6.06	0.98340	4.083000	0.57365	6.003000	0.52520	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9303:0.0:0.0697	13.772	0.62516	772	0.48957	.;.;.;.;.;Fibronectin, type I|Fibronectin, type I|Fibronectin, type I|Fibronectin, type I|Fibronectin, type I;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1203.98	34	chr2	215419286	.	C	T	1203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.770e-01;DP=865;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.33;ReadPosRankSum=0.901;SOR=0.730	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr2	216099952	216099952	G	A	exonic	TMEM169	.	nonsynonymous SNV	TMEM169:NM_001142311:exon3:c.G304A:p.V102I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.995	D	0.000	D	1.000	D	2.095	M	.	.	-0.316	T	0.408	T	0.53	5.077	31	4.93	2.550	9.554	17.308	0.343	.	.	0.00279553	0.0018	9.61e-05	0	0.0015	0	0	0	0.0125	0.0015394	238	154602	rs147230933	0.0007	0.0007	0.0004	0.0010	0.0111	0.0007	0.0007	0.0105	0.0103	0.0002	0	0	0.0010	0	0.0002	2.068e-05	0.0007	0.0111	0.0004	0.0004	0.0002	0.0006	0.0093	0.0003	0.0003	0.0072	0.0064	4.816e-05	0	0	0	0.0029	0	0	1.47e-05	0	0.0093	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.215	0.62545	M	.	.	.	-1.0	0.26422	N	0.523	0.56317	-0.3164	0.74523	T	0.408	0.75734	T	9	0.010059208	0.00225	T	.	.	.	0.343	0.66488	.	.	0.0666544352282	0.05500	0.17372362409669934	0.17292	0.518702503951	0.49715	0.574131965637	0.49261	T	0.123157	0.44732	T	-0.226783	0.17075	T	-0.0881465	0.64301	T	0.0743589451656015	0.09250	T	0.906009	0.68297	D	0.15495268	0.35046	0.12847947	0.30910	0.15495268	0.35045	0.12847947	0.30909	-4.289	0.28023	T	.	.	0.343	0.56091	A	.;.;.;.;.	.;.;.;.;.	4.938919	0.81495	27.6	0.99874061118010182	0.95160	0.99535	0.97177	D	AEFDBI	0.883233	0.81198	D	0.816409756359597	0.87123	9.109999	0.787813241486978	0.88934	9.772601	0.999999999993477	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.93	4.93	0.64394	9.671000	0.97894	11.724000	0.94868	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	17.308	0.87088	876	0.30350	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	660.98	34	chr2	216099952	.	G	A	660.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.769;DP=741;ExcessHet=0.0000;FS=1.185;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=1.10;SOR=0.465	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1067	20	0	1	0
chr2	216122121	216122121	G	A	exonic	XRCC5	.	nonsynonymous SNV	XRCC5:NM_021141:exon6:c.G551A:p.R184H,	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.001	B	0.002	B	0.002	N	1.000	N	1.245	L	1.48	T	-1.066	T	0.048	T	0.124	1.309	10.29	-10.2	-2.731	-2.551	4.092	0.020	0.00403088899827	7.7e-05	.	0.0001	0	0.0002	0	0	0.0002	0	6.066e-05	0.0001294	20	154602	rs61752200	9.851e-05	9.85e-05	8.168e-05	0.0001	0.0038	8.511e-05	7.981e-05	0.0026	0.0022	2.987e-05	4.472e-05	3.826e-05	0	0	0.0038	8.903e-05	0.0001	0.0001	0.0001	0.0001	8.994e-05	0.0002	0.0008	8.66e-05	7.252e-05	0.0003	0.0002	2.406e-05	0	0.0002	0	0	0	0.0034	0.0001	0.0005	0.0008	0.179	0.22053	T	0.303	0.20164	T	0.001	0.07471	B	0.002	0.06944	B	0.001745	0.00822	N	2.651550	1	0.08975	N	0.06	0.08197	N	1.48	0.31731	T	0.36	0.03700	N	0.116	0.10483	-1.0663	0.10246	T	0.048	0.20355	T	10	0.03489968	0.01716	T	0.004031	0.09587	T	0.020	0.03691	.	.	0.257342827899	0.25358	0.20059215172771536	0.19976	0.971778868319	0.73390	0.260984778404	0.05008	T	0.111173	0.42646	T	-0.490415	0.00646	T	-0.705555	0.05527	T	0.0205425225578992	0.00754	T	0.369963	0.08710	T	0.03827622	0.05070	0.038111523	0.03610	0.03827622	0.05070	0.038111523	0.03609	-4.249	0.27455	T	.	.	0.065	0.01909	B	.;.	.;.	-0.453521	0.02021	0.181	0.78634872101477438	0.12386	0.06657	0.12675	N	AEFBCI	0.115376	0.22687	N	-1.75245388934732	0.00672	0.02900261	-1.90625382178999	0.00476	0.02107284	0.999999996246622	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.09	-10.2	0.00305	-2.533000	0.01017	-3.551000	0.02702	-0.892000	0.02379	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3868:0.3753:0.0881:0.1498	4.092	0.09446	875	0.30485	Ku70/Ku80, N-terminal alpha/beta|von Willebrand factor, type A;Ku70/Ku80, N-terminal alpha/beta|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	724.98	34	chr2	216122121	.	G	A	724.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.680e-01;DP=751;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.72;ReadPosRankSum=0.601;SOR=0.733	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1130	20	0	1	0
chr2	216190314	216190314	T	G	exonic	XRCC5	.	nonsynonymous SNV	XRCC5:NM_021141:exon17:c.T1924G:p.F642V,	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.945	P	0.835	P	0.000	D	1.000	D	2.36	M	1.47	T	-0.927	T	0.147	T	0.824	3.708	18.83	3.59	0.815	3.598	8.619	0.235	0.0246419029469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.0	0.92824	D	0.945	0.53279	P	0.835	0.59863	P	0.000000	0.84330	D	0.054918	0.999998	0.58761	D	2.85	0.82803	M	1.47	0.31987	T	-2.47	0.53898	N	0.77	0.76760	-0.9268	0.44602	T	0.147	0.47165	T	10	0.8350296	0.82660	D	0.024642	0.47627	T	0.235	0.53788	0.764	0.89213	0.189391138174	0.18552	0.6537417842352667	0.65310	0.577366764153	0.53660	0.574522852898	0.49315	T	0.310639	0.68258	T	0.116603	0.66029	D	-0.0702839	0.65605	T	0.953888177871704	0.64132	D	0.857114	0.54640	D	0.6795492	0.76945	0.36894402	0.62175	0.6795492	0.76946	0.36894402	0.62174	-8.327	0.63277	D	.	.	0.513	0.65181	A	.;.	.;.	3.599993	0.50844	23.0	0.99004022703461414	0.50210	0.94756	0.62222	D	AEFBI	0.770802	0.70563	D	0.421734393371515	0.62617	4.480752	0.352925761060331	0.58683	4.040428	0.99926295442153	0.38940	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.741806	0.99463	0	.	.	4.78	3.59	0.40253	3.210000	0.50832	4.212000	0.42538	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0883:0.0:0.9117	8.619	0.33013	663	0.61610	Ku, C-terminal;Ku, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1791.98	37	chr2	216190314	.	T	G	1791.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.800e-01;DP=856;ExcessHet=0.0000;FS=1.980;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=-4.180e-01;SOR=0.892	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1208	20	0	1	0
chr2	217809892	217809892	G	A	exonic	TNS1	.	nonsynonymous SNV	TNS1:NM_001308022:exon28:c.C4850T:p.T1617M	.	.	420	1101	1	0	0	1	0.000453926	.	.	2364013	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	1.0	D	0.955	D	0.000	D	1.000	D	0.895	L	1.51	T	-1.035	T	0.109	T	0.439	3.389	17.44	3.5	1.067	4.577	12.280	0.137	0.0352747906961	.	.	7.417e-05	9.614e-05	0.0003	0	0	5.997e-05	0	6.058e-05	5.82e-05	9	154602	rs758979599	5.2e-05	5.2e-05	4.902e-05	5.502e-05	0.0003	4.259e-05	3.889e-05	6.092e-05	3.953e-05	2.987e-05	0.0001	0	5.038e-05	3.745e-05	0.0003	4.498e-05	9.936e-05	8.117e-05	9.201e-05	9.193e-05	8.994e-05	9.418e-05	0.0002	5.529e-05	4.366e-05	5.842e-05	4.239e-05	4.827e-05	0	0.0002	0	0	0	0	0.0001	0.0005	0	0.122	0.27663	T	0.066	0.53426	T	1.0	0.90584	D	0.955	0.69585	D	0.000145	0.49130	D	0.137270	0.683874	0.33260	D	1.39	0.34934	L	1.51	0.30937	T	-1.99	0.45949	N	0.523	0.56662	-1.0350	0.18857	T	0.109	0.39320	T	10	0.22896606	0.39814	T	0.035275	0.56238	D	0.137	0.36984	0.44	0.49484	0.266724437049	0.26276	0.25080430415334676	0.24994	0.586849640528	0.54273	0.568106532097	0.48410	T	0.068177	0.33390	T	-0.250291	0.14062	T	-0.3716	0.36702	T	0.330059379339218	0.26227	T	0.911709	0.71494	D	0.04405431	0.06974	0.07519513	0.16528	0.04405431	0.06973	0.07519513	0.16528	-4.125	0.25658	T	.	.	0.074	0.07365	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.264420	0.64833	24.8	0.99781381184217377	0.86780	0.96498	0.69439	D	AEFDBI	0.472845	0.51778	N	0.291477854118713	0.55716	3.735686	0.285883904583775	0.54715	3.635622	0.999998418780407	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.38	3.5	0.39181	6.708000	0.74483	7.613000	0.61989	0.636000	0.52005	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0826:0.0:0.9174:0.0	12.280	0.54076	940	0.13648	Tensin/EPS8 phosphotyrosine-binding domain|PTB/PI domain|Tensin, phosphotyrosine-binding domain;Tensin/EPS8 phosphotyrosine-binding domain|PTB/PI domain|Tensin, phosphotyrosine-binding domain;Tensin/EPS8 phosphotyrosine-binding domain|PTB/PI domain|Tensin, phosphotyrosine-binding domain;Tensin/EPS8 phosphotyrosine-binding domain|PTB/PI domain|Tensin, phosphotyrosine-binding domain;Tensin/EPS8 phosphotyrosine-binding domain|PTB/PI domain|Tensin, phosphotyrosine-binding domain;Tensin/EPS8 phosphotyrosine-binding domain|PTB/PI domain|Tensin, phosphotyrosine-binding domain;Tensin/EPS8 phosphotyrosine-binding domain|PTB/PI domain|Tensin, phosphotyrosine-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	794.98	37	chr2	217809892	.	G	A	794.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.22;DP=953;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=-3.600e-01;SOR=0.580	GT:AD:DP:GQ:PL	0/0:63,0:63:99:0,120,1800	20	0	1	0
chr2	217818745	217818745	C	T	exonic	TNS1	.	nonsynonymous SNV	TNS1:NM_001308022:exon22:c.G3236A:p.S1079N	.	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	1.0	D	0.987	D	0.463	N	1.000	D	0.805	L	2.05	T	0.471	D	0.789	D	0.175	3.265	16.96	5.27	2.472	5.479	18.893	0.263	0.159112371055	.	.	.	.	.	.	.	.	.	.	.	.	.	rs943078552	4.113e-06	4.788e-06	2.727e-06	5.514e-06	4.502e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.502e-06	1.66e-05	0	6.569e-06	6.566e-06	1.284e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.016	0.51853	D	0.3	0.20357	T	0.994	0.90584	D	0.977	0.77487	D	0.463201	0.12366	N	0.746360	0.990107	0.41088	D	2.35	0.67516	M	-2.95	0.92108	D	-0.78	0.30555	N	0.414	0.60664	0.471	0.90129	D	0.789	0.92854	D	10	0.3865118	0.54580	T	0.159112	0.83937	D	0.263	0.57612	0.178	0.08503	0.830254759925	0.82864	0.2877801100707768	0.28691	0.555825171214	0.52270	0.689920783043	0.65695	T	0.078659	0.35944	T	0.0376032	0.56730	T	-0.183762	0.56173	T	0.895406723022461	0.54695	D	0.932107	0.74696	D	0.2499397	0.47992	0.18224289	0.41139	0.2499397	0.47992	0.18224289	0.41138	-6.611	0.51138	T	.	.	0.314	0.56619	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.224961	0.63937	24.6	0.99646515939988978	0.77005	0.99105	0.91299	D	AEFDBI	0.750075	0.69131	D	0.477647782449707	0.65786	4.866625	0.492757421453683	0.67508	5.093553	0.999999999454368	0.74766	0.562547	0.31514	0	0.59043	0.45803	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.27	5.27	0.73797	4.271000	0.58699	7.696000	0.66036	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.552000	0.30221	0.0:1.0:0.0:0.0	18.893	0.92383	945	0.12563	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	685.98	40	chr2	217818745	.	C	T	685.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.740e-01;DP=785;ExcessHet=0.0000;FS=1.163;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.29;ReadPosRankSum=0.603;SOR=0.452	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr2	217847726	217847726	T	G	exonic	TNS1	.	nonsynonymous SNV	TNS1:NM_001308022:exon16:c.A2416C:p.N806H	.	.	398	1105	18	1	0	20	0.00896861	.	.	697315	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.162	B	0.121	B	0.987	N	1.000	N	0	N	-2.76	D	-0.498	T	0.474	T	0.045	-0.885	0.470	2.9	0.583	2.205	6.640	0.104	0.0429944531494	0.0012	0.000599042	0.0018	0.0003	0.0012	0	0.0006	0.0020	0.0033	0.0038	0.0017141	265	154602	rs141901890	0.0022	0.0022	0.0021	0.0023	0.0070	0.0022	0.0021	0.0052	0.0047	0.0002	0.0010	0.0008	0	0.0010	0.0070	0.0023	0.0023	0.0042	0.0015	0.0015	0.0015	0.0015	0.0041	0.0013	0.0012	0.0027	0.0023	0.0003	0	0.0007	0.0014	0	0.0010	0	0.0024	0.0005	0.0041	0.217	0.19157	T	0.139	0.33780	T	0.162	0.28404	B	0.121	0.32300	B	0.986698	0.08058	N	0.994171	1	0.08975	N	1.1	0.28011	L	-2.76	0.90904	D	-0.33	0.14390	N	0.238	0.30687	-0.4985	0.68704	T	0.474	0.79784	T	10	0.0075338185	0.00171	T	0.042994	0.60755	D	0.104	0.29647	.	.	0.631036566339	0.62802	0.35266923823291957	0.35180	0.222514327128	0.24783	0.335076749325	0.15699	T	0.045347	0.27096	T	-0.437887	0.01331	T	-0.399437	0.33450	T	0.00503909717186177	0.00054	T	0.737426	0.35417	T	0.05296016	0.09952	0.05846371	0.10808	0.05296016	0.09952	0.05846371	0.10807	-2.723	0.07498	T	.	.	0.069	0.03093	B	.;.;.;.;.;.	.;.;.;.;.;.	2.406268	0.30922	18.58	0.8255103183594763	0.14251	0.75342	0.36884	D	AEFDBCI	0.334560	0.43328	N	-0.71279601441514	0.15661	0.791244	-0.666106537991906	0.17811	0.9486976	0.99997784324916	0.50053	0.653281	0.48532	0	0.59043	0.45803	0	0.602189	0.34648	0	0.669	0.65921	0	.	.	4.11	2.9	0.32809	1.378000	0.33935	3.369000	0.37918	0.665000	0.62972	0.859000	0.30595	0.997000	0.33255	0.580000	0.30894	0.0:0.2965:0.0:0.7035	6.640	0.22096	957	0.09725	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1426.98	41	chr2	217847726	.	T	G	1426.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.40;DP=1187;ExcessHet=0.0000;FS=2.837;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.22;ReadPosRankSum=1.33;SOR=1.048	GT:AD:DP:GQ:PL	0/0:69,0:69:99:0,120,1800	20	0	1	0
chr2	217848166	217848166	-	GCTGCT	exonic	TNS1	.	nonframeshift insertion	TNS1:NM_001308022:exon16:c.1975_1976insAGCAGC:p.Q659_P660insQQ	.	.	424	918	155	1	24	181	0.0787757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1844.05	115	chr2	217848163	.	GGCT	G,GGCTGCTGCT	1844.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-2.920e-01;DP=2103;ExcessHet=0.1072;FS=0.778;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=7.53;ReadPosRankSum=-3.000e-02;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:121,0,0:121:99:.:.:0,120,1800,120,1800,1800	19	0	1	0
chr2	218072830	218072830	C	A	exonic	RUFY4	.	nonsynonymous SNV	RUFY4:NM_198483:exon6:c.C331A:p.R111S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	.	.	.	.	0.636	N	1.000	D	0.345	N	1.62	T	-1.026	T	0.075	T	0.355	1.813	12.02	4.08	2.281	4.268	14.607	0.134	0.0143507460869	.	0.00139776	0.0004	0.0029	0.0034	0	0	0	0	0	0.0001617	25	154602	rs139730449	0.0001	0.0001	0.0002	0.0001	0.0032	0.0001	0.0001	0.0027	0.0025	0.0032	0.0003	0	0	0	0.0012	3.431e-05	0.0006	2.53e-05	0.0009	0.0009	0.0010	0.0008	0.0030	0.0008	0.0007	0.0025	0.0024	0.0030	0	0.0003	0	0	0	0	8.819e-05	0.0024	0	0.019	0.61437	D	0.031	0.57587	D	.	.	.	.	.	.	0.635928	0.10643	N	0.768768	1	0.81001	D	1.1	0.28011	L	1.62	0.28189	T	-1.73	0.41239	N	0.391	0.47949	-1.0259	0.21788	T	0.075	0.30086	T	8	0.011500865	0.00251	T	0.014351	0.34408	T	0.134	0.36365	0.577	0.70217	0.527958119908	0.52444	0.26982269490165733	0.26895	0.051584769685	0.05677	0.282365530729	0.07825	T	0.023188	0.23072	T	-0.445911	0.01194	T	-0.416348	0.31495	T	0.0338290306445298	0.02609	T	0.636336	0.25008	T	0.2544487	0.48473	0.22803141	0.47832	0.2544487	0.48473	0.22803141	0.47831	-8.574	0.64917	D	.	.	0.312	0.53936	B	.;.	.;.	2.747361	0.36003	20.1	0.9786890060290212	0.36520	0.81991	0.41290	D	AEFDBHCI	0.756317	0.69562	D	-0.120842671469494	0.36484	2.109609	-0.140111393588641	0.33790	1.936693	0.999999844529767	0.74766	0.65861	0.49226	0	0.61073	0.52368	0	0.725225	0.93170	0	0.542086	0.14980	0	.	.	4.08	4.08	0.46880	3.670000	0.54305	2.480000	0.32936	0.545000	0.25583	0.990000	0.36992	0.868000	0.27561	0.194000	0.21720	0.0:1.0:0.0:0.0	14.607	0.68081	894	0.26265	RUN domain|RUN domain|RUN domain;RUN domain|RUN domain|RUN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1149.98	38	chr2	218072830	.	C	A	1149.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=839;ExcessHet=0.0000;FS=2.466;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.45;ReadPosRankSum=-3.220e-01;SOR=0.496	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1455	20	0	1	0
chr2	218083120	218083120	G	A	exonic	RUFY4	.	nonsynonymous SNV	RUFY4:NM_198483:exon11:c.G1366A:p.E456K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.888	P	0.287	B	0.029	N	0.509	N	0.205	N	1.17	T	-1.007	T	0.068	T	0.353	2.326	13.74	2.89	1.955	1.806	8.391	0.045	0.0186849884476	0.0012	0.000399361	0.0006	0.0001	8.693e-05	0	0	0.0010	0.0011	0	0.0005433	84	154602	rs200129236	0.0005	0.0005	0.0005	0.0005	0.0015	0.0004	0.0004	0.0007	0.0005	0.0007	0.0001	0.0149	2.519e-05	0	0.0015	0.0001	0.0017	2.32e-05	0.0006	0.0006	0.0005	0.0006	0.0004	0.0005	0.0004	0.0002	0.0002	0.0002	0	0	0.0159	0	0	0	0.0004	0.0009	0	0.004	0.65419	D	0.025	0.56640	D	0.888	0.48822	P	0.287	0.40572	B	0.028882	0.25534	N	0.277746	0.999881	0.31661	N	1.845	0.48678	L	0.36	0.57880	T	-1.66	0.50175	N	0.489	0.52297	-1.0068	0.27912	T	0.068	0.27913	T	10	0.0051163733	0.00111	T	0.018685	0.40835	T	0.045	0.12272	.	.	0.552980905328	0.54955	0.20619499349635356	0.20536	0.0534819132666	0.05892	0.432508707047	0.29552	T	0.055442	0.30008	T	-0.290384	0.09598	T	-0.338737	0.40487	T	0.0154080583417271	0.00345	T	0.827217	0.49813	T	0.1329763	0.30946	0.14783856	0.34969	0.1329763	0.30946	0.14783856	0.34969	-6.404	0.49540	T	.	.	0.134	0.28976	B	.;.	.;.	3.981834	0.58545	24.0	0.99352112623511657	0.60615	0.68777	0.33931	D	AEFDBI	0.099755	0.20073	N	-0.0543728196602777	0.39407	2.323422	0.0141178274503136	0.40368	2.408114	0.999903451704761	0.45458	0.553676	0.25195	0	0.378119	0.05977	1	0.618467	0.43123	0	0.542086	0.14980	0	.	.	3.83	2.89	0.32713	1.620000	0.36586	6.511000	0.55808	0.657000	0.54293	0.965000	0.33920	1.000000	0.68203	0.898000	0.43474	0.0:0.2674:0.7326:0.0	8.391	0.31691	889	0.27310	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1903.98	35	chr2	218083120	.	G	A	1903.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.560e-01;DP=833;ExcessHet=0.0000;FS=6.454;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.00;ReadPosRankSum=3.06;SOR=0.980	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1164	20	0	1	0
chr2	218217496	218217496	G	C	exonic	ARPC2	.	nonsynonymous SNV	ARPC2:NM_005731:exon1:c.G26C:p.R9P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.998	D	0.934	D	0.000	D	1.000	D	2.76	M	.	.	-0.109	T	0.459	T	0.891	4.880	28.0	5.45	2.835	7.270	17.235	0.513	0.104189998129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.30943	T	0.277	0.60337	T	0.998	0.73220	D	0.934	0.66904	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.72	0.79541	M	.	.	.	-4.67	0.85247	D	0.866	0.86297	-0.1087	0.79898	T	0.459	0.78981	T	9	0.8234941	0.81540	D	0.10419	0.77863	D	0.513	0.79156	0.502	0.59460	0.703440646678	0.70086	0.9333937753216618	0.93318	2.37341502255	0.96965	0.81335234642	0.84006	D	0.315394	0.68700	T	0.398118	0.89803	D	0.334093	0.89675	D	0.998154938220978	0.93375	D	0.916908	0.72182	D	0.95587873	0.96863	0.92379576	0.96664	0.95587873	0.96863	0.92379576	0.96665	-3.952	0.23083	T	.	.	0.997	0.96936	P	.;.;.	.;.;.	5.392167	0.90332	31	0.99638235360310656	0.76510	0.83946	0.43035	D	ALL	0.958715	0.97865	D	0.869358285525551	0.90180	10.28843	0.837871592239494	0.92288	11.34079	0.999999999999366	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.45	5.45	0.79688	6.355000	0.72985	9.595000	0.81054	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.235	0.86879	946	0.12043	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	322.98	34	chr2	218217496	.	G	C	322.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.160e+00;DP=832;ExcessHet=0.0000;FS=2.449;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.33;ReadPosRankSum=0.740;SOR=0.628	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	20	0	1	0
chr2	218263058	218263058	A	G	exonic	GPBAR1	.	nonsynonymous SNV	GPBAR1:NM_001077191:exon2:c.A334G:p.M112V	.	.	410	1110	2	0	0	2	0.00090009	.	.	492565	not_provided|not_specified|GPBAR1-related_disorder	MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.0	B	0.392	N	1.000	N	-0.08	N	1.47	T	-1.014	T	0.025	T	0.055	-1.634	0.013	-4.25	-0.351	-0.848	4.823	0.016	0.00215240874402	.	.	0.0002	0	0	0.0003	0	0.0003	0	0	0.0001488	23	154602	rs202032682	0.0001	0.0001	0.0001	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0	2.236e-05	0.0047	0.0004	0	0.0002	3.418e-05	0.0005	0	0.0001	0.0001	0.0002	0.0001	0.0002	9.164e-05	7.717e-05	2.849e-05	1.86e-05	0	0	0	0.0043	0.0002	0	0	7.36e-05	0	0	0.856	0.02698	T	0.221	0.25827	T	0.0	0.02946	B	0.0	0.01387	B	0.392437	0.13236	N	0.678515	1	0.08975	N	-0.63	0.02141	N	1.47	0.31987	T	0.01	0.06868	N	0.066	0.03956	-1.0141	0.25625	T	0.025	0.10821	T	10	0.007820815	0.00178	T	0.002152	0.04016	T	0.016	0.02506	.	.	0.39798585902	0.39410	0.3759756674634495	0.37511	0.0439852699603	0.04735	0.338374167681	0.16194	T	0.045535	0.27151	T	-0.544622	0.00314	T	-0.71122	0.05233	T	0.0244586776075838	0.01203	T	0.415458	0.10884	T	0.093095675	0.21857	0.13105525	0.31478	0.093095675	0.21857	0.13105525	0.31477	-2.289	0.04495	T	.	.	0.051	0.00179	B	.;.;.;.	.;.;.;.	-0.248571	0.02851	0.401	0.56042441826870493	0.05468	0.12834	0.17507	N	AEFDBCI	0.065468	0.12770	N	-1.1138827046077	0.06395	0.2942659	-1.08334082687374	0.08028	0.3929723	0.999995580973363	0.74766	0.421363	0.06395	0	0.379588	0.06130	0	0.536957	0.11973	0	0.508809	0.08732	0	.	.	5.15	-4.25	0.03508	-0.526000	0.06295	-2.392000	0.03811	0.756000	0.94297	0.002000	0.15269	0.000000	0.08366	0.844000	0.39860	0.3212:0.1102:0.4605:0.1082	4.823	0.12766	886	0.28090	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1082.98	37	chr2	218263058	.	A	G	1082.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.863e+00;DP=823;ExcessHet=0.0000;FS=0.684;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.02;ReadPosRankSum=-4.250e-01;SOR=0.621	GT:AD:DP:GQ:PL	0/1:71,49:120:99:1097,0,2023	20	0	1	0
chr2	218323409	218323409	C	T	exonic	PNKD	.	stopgain	PNKD:NM_022572:exon1:c.C142T:p.Q48X,	Paroxysmal nonkinesigenic dyskinesia, Autosomal dominant	.	0	1518	4	0	0	4	0.00131579	.	.	513522	not_provided|Paroxysmal_nonkinesigenic_dyskinesia_1	MedGen:C3661900|MONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800,Orphanet:98810	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.93	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	6.261	37	0.794	0.303	1.040	6.264	.	.	.	0.000599042	0.0001	0	0	0	0	5.481e-05	0	0.0004	7.76e-05	12	154602	rs201323830	5.557e-05	5.609e-05	4.612e-05	6.516e-05	0.0009	4.535e-05	4.198e-05	0.0003	0.0002	0	0	0	0	0	0.0009	4.366e-05	0.0001	0.0002	5.918e-05	5.907e-05	7.72e-05	4.035e-05	0.0006	3.079e-05	2.212e-05	0.0002	8.996e-05	0	0	0	0	0	0	0	8.827e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.498	0.53093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.286546	0.09985	T	-0.341964	0.40123	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.493053	0.32169	18.96	0.99555232532729743	0.71397	0.49231	0.28386	N	ALL	0.115466	0.22701	N	-0.242581033416389	0.31401	1.760311	-0.224802208437203	0.30650	1.727563	0.999999999995264	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.47417	0.07244	0	0.372554	0.06265	0	.	.	4.37	0.794	0.17781	0.895000	0.27996	3.218000	0.36838	0.578000	0.29377	0.999000	0.42656	1.000000	0.68203	0.994000	0.71098	0.1918:0.5563:0.2519:0.0	6.264	0.20124	854	0.34840	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	528.98	39	chr2	218323409	.	C	T	528.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.810e+00;DP=749;ExcessHet=0.0000;FS=3.405;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.03;ReadPosRankSum=-7.490e-01;SOR=0.239	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,934	20	0	1	0
chr2	218367059	218367059	G	C	exonic	CATIP	.	nonsynonymous SNV	CATIP:NM_001320865:exon8:c.G824C:p.G275A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.301	B	0.131	B	0.000	D	1.000	N	1.32	L	.	.	-0.999	T	0.066	T	0.242	1.595	11.29	3.77	2.617	1.335	7.381	0.068	0.00188443227756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.553	0.06523	T	1.0	0.01155	T	0.301	0.32572	B	0.131	0.32951	B	0.000158	0.49130	D	0.136806	1	0.08975	N	1.895	0.50365	L	.	.	.	0.07	0.06138	N	0.108	0.09349	-0.9987	0.30283	T	0.066	0.27260	T	9	0.09103069	0.15910	T	0.001884	0.03299	T	0.068	0.19811	0.365	0.37199	0.352262096564	0.34836	0.6543297385516778	0.65368	0.84883214251	0.68431	.	.	.	0.028442	0.20604	T	-0.143953	0.29263	T	-0.444555	0.28299	T	0.243625177241514	0.22585	T	0.744226	0.36418	T	0.07430169	0.16664	0.07193831	0.15463	0.07430169	0.16664	0.07193831	0.15462	-4.228	0.27155	T	.	.	0.113	0.22171	B	.	.	2.525521	0.32641	19.10	0.98694282300634018	0.44809	0.23036	0.21945	N	AEFDGBCI	0.116996	0.22939	N	-0.454088650901941	0.23602	1.26857	-0.401653684087464	0.24949	1.369143	0.999940431683214	0.47345	0.541725	0.22260	1	0.459889	0.06624	1	0.536957	0.11973	0	0.562822	0.20929	0	.	.	4.72	3.77	0.42499	0.915000	0.28260	4.693000	0.44374	0.676000	0.76740	0.107000	0.22934	0.997000	0.33255	0.996000	0.76049	0.0:0.153:0.5638:0.2832	7.381	0.26027	899	0.25060	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1055.98	33	chr2	218367059	.	G	C	1055.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.640e-01;DP=769;ExcessHet=0.0000;FS=2.907;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=-4.330e-01;SOR=0.436	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1219	20	0	1	0
chr2	218367740	218367740	C	T	exonic	CATIP	.	nonsynonymous SNV	CATIP:NM_001320865:exon10:c.C973T:p.H325Y	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.461	P	0.136	B	0.000	D	0.993	D	1.565	L	.	.	-0.749	T	0.181	T	0.263	1.423	10.70	4.9	2.246	4.208	17.671	0.142	0.0262518304468	0.0006	0.000798722	0.0009	0.0004	0.0004	0	0	0.0014	0.0020	0	0.0005369	83	154602	rs150944493	0.0005	0.0005	0.0005	0.0005	0.0031	0.0004	0.0004	0.0020	0.0017	0.0006	0.0002	0.0147	0	0	0.0031	0.0001	0.0015	3.513e-05	0.0006	0.0006	0.0006	0.0007	0.0004	0.0005	0.0005	0.0003	0.0003	0.0003	0	6.533e-05	0.0147	0	0	0.0034	0.0004	0.0014	0	0.223	0.18757	T	0.071	0.43531	T	0.461	0.36363	P	0.136	0.33270	B	0.000495	0.43931	D	0.230900	0.993053	0.41822	D	2.24	0.63355	M	.	.	.	-3.1	0.63554	D	0.492	0.52563	-0.7493	0.57972	T	0.181	0.52767	T	9	0.0077836215	0.00177	T	0.026252	0.49171	D	0.142	0.37995	.	.	0.607079148747	0.60392	0.8207463829069734	0.82031	0.434749923973	0.43605	.	.	.	0.314752	0.68641	T	-0.180417	0.23675	T	-0.168972	0.57538	T	0.442093282938004	0.30506	T	0.763824	0.39073	T	0.25898048	0.48949	0.36099914	0.61532	0.25898048	0.48949	0.36099914	0.61531	-8.469	0.64224	D	.	.	0.195	0.41602	B	.	.	3.554999	0.49998	22.9	0.85886972175312049	0.16175	0.96071	0.67401	D	AEFGBHCIJ	0.544703	0.55952	D	0.017719886886968	0.42660	2.574669	0.0581083538128608	0.42465	2.568987	0.99999999999978	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.621717	0.48901	0	.	.	4.9	4.9	0.63643	3.984000	0.56632	5.789000	0.49856	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.390000	0.26558	0.0:1.0:0.0:0.0	17.671	0.88120	898	0.25240	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	556.98	34	chr2	218367740	.	C	T	556.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=773;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.92;ReadPosRankSum=-6.370e-01;SOR=0.738	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1186	20	0	1	0
chr2	218392997	218392997	G	A	exonic	SLC11A1	.	nonsynonymous SNV	SLC11A1:NM_000578:exon12:c.G1181A:p.R394Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.112	B	0.064	B	0.001	D	0.981	D	1.645	L	-0.54	T	-0.896	T	0.218	T	0.54	0.772	8.081	2.97	0.629	3.111	8.350	0.302	0.0676440376857	0.0015	0.00179712	0.0004	0.0047	0	0	0	4.518e-05	0.0011	0	0.000401	62	154602	rs145676383	0.0001	0.0001	0.0002	0.0001	0.0049	0.0001	0.0001	0.0043	0.0040	0.0049	2.355e-05	0	0	2.059e-05	0	1.992e-05	0.0002	0	0.0011	0.0011	0.0010	0.0012	0.0039	0.0010	0.0009	0.0034	0.0032	0.0039	0	0.0003	0	0	0	0	5.881e-05	0	0	0.449	0.09022	T	0.363	0.16815	T	0.064	0.23455	B	0.044	0.24394	B	0.000774	0.41888	D	0.097179	0.980676	0.39692	D	2.17	0.60663	M	-0.54	0.70950	T	-0.3	0.11913	N	0.427	0.46649	-0.8964	0.48351	T	0.218	0.58111	T	10	0.016892731	0.00358	T	0.067644	0.70225	D	0.302	0.62290	.	.	0.797896232723	0.79601	0.46412477515687756	0.46331	0.539507297638	0.51178	0.467947304249	0.34398	T	0.361246	0.72736	T	-0.301714	0.08499	T	-0.205489	0.54126	T	0.110645136494719	0.13490	T	0.928807	0.73814	D	0.14301929	0.32888	0.1443625	0.34277	0.14301929	0.32888	0.1443625	0.34276	-7.043	0.54347	T	.	.	0.084	0.09820	B	.	.	3.826502	0.55281	23.6	0.83925678450489793	0.14997	0.91581	0.53828	D	AEFBI	0.564335	0.57116	D	-0.672809357258164	0.16798	0.8590538	-0.63704797720503	0.18544	0.9910999	0.999991440954263	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.491513	0.07944	0	0.613276	0.41899	0	.	.	4.75	2.97	0.33479	2.859000	0.48063	5.738000	0.49558	-0.137000	0.12594	1.000000	0.71638	1.000000	0.68203	0.056000	0.15673	0.238:0.0:0.762:0.0	8.350	0.31456	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	971.98	39	chr2	218392997	.	G	A	971.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=896;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=-2.559e+00;SOR=0.774	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr2	218429888	218429888	G	T	exonic	VIL1	.	nonsynonymous SNV	VIL1:NM_007127:exon9:c.G889T:p.V297L,	Cholestasis, progressive canalicular (1)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.953	D	0.000	D	1.000	D	2.7	M	0.73	T	-0.306	T	0.333	T	0.86	3.692	18.76	4.72	2.466	6.531	17.866	0.297	0.022092023772	.	.	8.284e-06	0	0	0	0	1.507e-05	0	0	6.5e-06	1	154602	rs140845549	5.475e-06	5.472e-06	5.448e-06	5.502e-06	7.197e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.197e-06	0	0	6.59e-06	6.573e-06	1.288e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.037	0.50676	D	0.009	0.70582	D	1.0	0.90584	D	0.953	0.69275	D	0.000189	0.48115	D	0.084306	0.999993	0.81001	D	2.305	0.65957	M	0.73	0.50721	T	-2.57	0.55501	D	0.808	0.80375	-0.3061	0.74815	T	0.333	0.70026	T	10	0.7477571	0.75413	D	0.022092	0.44941	T	0.297	0.61730	0.504	0.59770	0.653222280543	0.65033	0.6440047264393644	0.64335	0.650635834569	0.58335	0.598959326744	0.52757	T	0.360091	0.72639	T	0.216194	0.75414	D	0.072771	0.75095	D	0.95790833234787	0.65131	D	0.89861	0.64536	D	0.33266827	0.55688	0.24600272	0.50100	0.33266827	0.55688	0.24600272	0.50099	-7.264	0.65994	T	.	.	0.338	0.69182	B	.;.	.;.	4.116826	0.61501	24.3	0.99659628748733331	0.77820	0.98231	0.80757	D	AEFDBI	0.953539	0.96991	D	0.608238997311787	0.73696	6.008349	0.518166785232194	0.69212	5.328409	0.999974171255984	0.50053	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.562822	0.20929	0	.	.	4.72	4.72	0.59248	7.845000	0.85166	4.508000	0.43636	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.842000	0.39752	0.0:0.0:1.0:0.0	17.866	0.88709	909	0.22467	Gelsolin-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1516.98	36	chr2	218429888	.	G	T	1516.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.646;DP=900;ExcessHet=0.0000;FS=0.602;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.98;ReadPosRankSum=1.02;SOR=0.709	GT:AD:DP:GQ:PL	0/1:84,68:152:99:1531,0,1924	20	0	1	0
chr2	218549837	218549837	C	G	exonic	USP37	.	nonsynonymous SNV	USP37:NM_020935:exon6:c.G401C:p.S134T,	.	.	430	1067	24	1	0	26	0.012037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.066	B	0.023	B	0.001	N	1.000	N	0	N	1.02	T	-1.051	T	0.035	T	0.058	1.952	12.48	1.38	0.090	1.746	7.182	0.033	.	0.0035	0.00379393	0.0044	0.0010	0.0016	0	0.0011	0.0048	0.0089	0.0100	0.0042108	651	154602	rs150600881	0.0054	0.0054	0.0052	0.0056	0.0093	0.0053	0.0053	0.0087	0.0085	0.0007	0.0016	0.0077	2.53e-05	0.0021	0.0073	0.0057	0.0053	0.0093	0.0036	0.0036	0.0036	0.0035	0.0101	0.0033	0.0032	0.0079	0.0071	0.0012	0	0.0024	0.0078	0	0.0015	0.0068	0.0052	0.0052	0.0101	0.04	0.50132	D	0.065	0.44702	T	0.001	0.23586	B	0.002	0.19966	B	0.001025	0.40562	N	0.297575	0.999926	0.20745	N	0.805	0.20218	L	1.02	0.45248	T	-1.19	0.30964	N	0.222	0.30800	-1.0513	0.14036	T	0.035	0.14900	T	10	0.00652802	0.00148	T	.	.	.	0.033	0.08068	.	.	0.147330786459	0.14319	0.11837703786866471	0.11764	0.282033691063	0.30668	0.317671149969	0.13068	T	0.005983	0.20579	T	-0.619586	0.00111	T	-0.656372	0.08513	T	0.00736813601991821	0.00085	T	0.751925	0.39491	T	0.06635947	0.14269	0.07824549	0.17507	0.06635947	0.14268	0.07824549	0.17506	-4.483	0.30692	T	.	.	0.069	0.05103	B	.;.;.;.;.	.;.;.;.;.	1.999324	0.25404	16.75	0.95936598180550903	0.28230	0.71424	0.35007	D	AEFBI	0.154394	0.27942	N	-0.685966644365268	0.16421	0.8364712	-0.518261766284931	0.21658	1.172629	0.101133132954182	0.16370	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.03	1.38	0.21262	1.809000	0.38560	0.654000	0.20444	-0.341000	0.05685	1.000000	0.71638	1.000000	0.68203	0.935000	0.47363	0.0:0.2804:0.0:0.7196	7.182	0.24955	827	0.39843	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	576.98	34	chr2	218549837	.	C	G	576.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.141e+00;DP=763;ExcessHet=0.0000;FS=0.951;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.88;ReadPosRankSum=0.205;SOR=0.852	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,983	20	0	1	0
chr2	218644478	218644478	C	T	exonic	ZNF142	.	nonsynonymous SNV	ZNF142:NM_001366291:exon7:c.G2038A:p.G680S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.361	B	0.068	B	0.226	N	1.000	N	0	N	2.82	T	-0.976	T	0.012	T	0.14	0.147	4.789	4.11	1.300	0.795	9.684	0.049	0.00447290654634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.777	0.03317	T	0.83	0.03717	T	0.361	0.33905	B	0.068	0.27651	B	0.225939	0.16029	N	0.607960	1	0.08975	N	0	0.06538	N	2.82	0.10871	T	0.32	0.03955	N	0.117	0.10626	-0.9758	0.35948	T	0.012	0.04700	T	10	0.05173856	0.05101	T	0.004473	0.10969	T	0.049	0.13647	0.369	0.37850	0.259761712551	0.25597	0.11290686624604603	0.11218	0.145081945757	0.16401	0.341643959284	0.16684	T	0.003258	0.02667	T	-0.285194	0.10125	T	-0.647438	0.09135	T	0.154248937513497	0.17437	T	0.522448	0.17034	T	0.057685655	0.11511	0.057406493	0.10430	0.057685655	0.11511	0.057406493	0.10430	-3.656	0.18671	T	.	.	0.087	0.13127	B	.;.	.;.	0.902896	0.12768	9.287	0.79746610833137355	0.12882	0.43679	0.27151	N	AEFBCI	0.097322	0.19631	N	-0.709455037961579	0.15755	0.7968017	-0.614986628331637	0.19109	1.023769	0.97079511507631	0.29235	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.662433	0.64102	0	.	.	5.01	4.11	0.47350	1.870000	0.39166	0.849000	0.22120	0.599000	0.40250	0.005000	0.17040	0.000000	0.08366	0.723000	0.34869	0.1592:0.6872:0.1535:0.0	9.684	0.39250	917	0.20147	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1381.98	85	chr2	218644478	.	C	T	1381.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=1569;ExcessHet=0.0000;FS=7.190;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.26;ReadPosRankSum=-5.690e-01;SOR=0.818	GT:AD:DP:GQ:PL	0/0:73,0:73:99:0,120,1800	20	0	1	0
chr2	218782265	218782265	A	C	exonic	CYP27A1	.	nonsynonymous SNV	CYP27A1:NM_000784:exon1:c.A83C:p.K28T,	Cerebrotendinous xanthomatosis, Autosomal recessive	.	3	1518	1	0	0	1	0.000329272	.	.	492252	Intellectual_disability|Cholestanol_storage_disease|Cardiovascular_phenotype|not_provided	Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MONDO:MONDO:0008948,MedGen:C0238052,OMIM:213700,Orphanet:909|MedGen:CN230736|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.3	T	0.998	D	0.986	D	0.067	N	0.580	D	0.55	N	-0.94	T	-0.332	T	0.355	T	0.584	2.282	13.59	4.14	1.730	3.633	9.458	0.329	0.0634679372036	7.9e-05	.	0.0002	0.0007	0	0	0	0.0003	0	0	3.23e-05	5	154602	rs371449777	8.909e-05	8.824e-05	9.092e-05	8.722e-05	0.0002	7.6e-05	7.135e-05	9.76e-05	9.124e-05	0	0	0	0	0	0.0002	0.0001	1.709e-05	0	7.228e-05	7.223e-05	8.994e-05	5.379e-05	0.0002	3.971e-05	3.127e-05	5.844e-05	4.24e-05	4.823e-05	0	0	0	0	0	0	0.0001	0	0.0002	0.116	0.28395	T	0.526	0.10245	T	0.998	0.73220	D	0.986	0.76916	D	0.067450	0.21740	N	0.472592	0.579855	0.32365	D	0.975	0.24501	L	-0.94	0.75325	T	-0.62	0.18248	N	0.512	0.54322	-0.3317	0.74084	T	0.355	0.71819	T	10	0.46265993	0.59379	T	0.063468	0.68978	D	0.329	0.65126	.	.	0.730013675969	0.72761	0.41474417287627857	0.41390	0.716479101392	0.61995	0.855491638184	0.90441	D	0.237603	0.60532	T	-0.113327	0.34219	T	-0.174861	0.56997	T	0.105344646798586	0.12934	T	0.80472	0.45238	T	0.10032811	0.23688	0.08322085	0.19055	0.10032811	0.23688	0.08322085	0.19055	-2.742	0.07663	T	.	.	0.196	0.41708	B	.	.	3.864805	0.56067	23.7	0.99498976064605049	0.67916	0.94498	0.61359	D	AEFDBHCIJ	0.537198	0.55510	D	0.151588493066006	0.48888	3.095502	0.114628613450184	0.45296	2.795292	0.999999999997189	0.74766	0.652421	0.48094	0	0.596491	0.49125	0	0.64067	0.45733	0	0.618803	0.45993	0	.	.	4.14	4.14	0.47821	3.635000	0.54050	7.277000	0.58009	0.582000	0.30178	1.000000	0.71638	1.000000	0.68203	0.509000	0.29221	1.0:0.0:0.0:0.0	9.458	0.37929	888	0.27761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	351.98	38	chr2	218782265	.	A	C	351.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.170e-01;DP=770;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.51;ReadPosRankSum=-2.399e+00;SOR=0.892	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1348	20	0	1	0
chr2	218814752	218814752	G	A	exonic	CYP27A1	.	nonsynonymous SNV	CYP27A1:NM_000784:exon8:c.G1471A:p.A491T,	Cerebrotendinous xanthomatosis, Autosomal recessive	YES	1	1517	3	1	0	5	0.00164528	.	.	588867	not_provided|Cholestanol_storage_disease	MedGen:C3661900|MONDO:MONDO:0008948,MedGen:C0238052,OMIM:213700,Orphanet:909	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.74	T	0.17	B	0.053	B	0.677	N	0.945	N	0.75	N	-0.61	T	-0.933	T	0.136	T	0.145	2.602	14.66	-6.59	-0.802	-0.231	8.411	0.150	0.0350283932694	.	.	0.0002	9.86e-05	8.666e-05	0	0	6.029e-05	0.0011	0.0014	0.0002005	31	154602	rs72551323	0.0001	0.0001	9.665e-05	0.0002	0.0016	0.0001	0.0001	0.0014	0.0013	2.987e-05	2.236e-05	0	2.519e-05	0	0.0003	4.676e-05	0.0001	0.0016	5.253e-05	5.249e-05	1.285e-05	9.399e-05	0.0008	2.555e-05	1.829e-05	0.0003	0.0002	0	0	0	0	0.0002	0	0	4.411e-05	0	0.0008	0.186	0.21467	T	0.856	0.03447	T	0.17	0.28703	B	0.053	0.25678	B	0.676874	0.10292	N	0.865163	0.945027	0.26673	N	0.405	0.12330	N	-0.61	0.71779	T	-1.02	0.26843	N	0.124	0.11626	-0.9334	0.43636	T	0.136	0.45203	T	10	0.040766925	0.02674	T	0.035028	0.56072	D	0.150	0.39571	0.703	0.83962	0.548274029423	0.54483	0.6164338760507196	0.61575	0.18806904077	0.21130	0.286449611187	0.08407	T	0.271663	0.64401	T	-0.470155	0.00848	T	-0.4782	0.24638	T	0.0231964028690463	0.01046	T	0.749925	0.37107	T	0.05457275	0.10490	0.07379493	0.16076	0.05457275	0.10489	0.07379493	0.16075	-3.884	0.22062	T	.	.	0.068	0.02894	B	.	.	0.901670	0.12757	9.275	0.97515636428330377	0.34373	0.15099	0.18744	N	AEFDBI	0.631413	0.61240	D	-0.984637699777554	0.08931	0.4206902	-0.983030221775649	0.10166	0.5103083	0.947871977666594	0.27774	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.25	-6.59	0.01663	-0.570000	0.05986	0.483000	0.18825	0.676000	0.76740	0.000000	0.06391	0.977000	0.30130	0.948000	0.49324	0.1032:0.0:0.4554:0.4414	8.411	0.31801	877	0.30165	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.02381	2151.98	33	chr2	218814752	.	G	A	2151.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.301e+00;DP=850;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.55;ReadPosRankSum=-1.115e+00;SOR=0.684	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1222	20	0	1	0
chr2	218882255	218882255	C	T	exonic	WNT10A	.	nonsynonymous SNV	WNT10A:NM_025216:exon2:c.C208T:p.R70W,	Odontoonychodermal dysplasia, Autosomal recessive;Schopf-Schulz-Passarge syndrome, Autosomal recessive;Tooth agenesis, selective, 4, Autosomal recessive, Autosomal dominant	.	0	1504	17	1	0	19	0.00627684	.	.	284751	WNT10A-related_disorder|Tooth_agenesis,_selective,_4|SchC6pf-Schulz-Passarge_syndrome|Odonto-onycho-dermal_dysplasia|not_provided	.|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400,Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750,Orphanet:50944|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980,Orphanet:2721|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.999	D	0.953	D	0.000	D	1.000	D	3.14	M	-1.08	T	0.320	D	0.637	D	0.756	3.668	18.64	0.679	-0.183	0.471	13.623	0.299	.	0.0014	0.00279553	0.0020	0.0003	0.0017	0	0.0012	0.0018	0.0011	0.0055	0.0019146	296	154602	rs146460077	0.0014	0.0014	0.0012	0.0015	0.0060	0.0013	0.0013	0.0056	0.0054	0.0001	0.0011	0	2.519e-05	0.0014	0.0042	0.0011	0.0015	0.0060	0.0011	0.0011	0.0011	0.0011	0.0081	0.0010	0.0009	0.0061	0.0054	0.0002	0	0.0006	0	0	0.0008	0.0034	0.0014	0.0024	0.0081	0.002	0.72154	D	0.004	0.74150	D	0.999	0.77913	D	0.953	0.69275	D	0.000023	0.55875	D	0.068078	0.999973	0.53665	D	3.435	0.92070	M	-1.08	0.77078	T	-4.05	0.74504	D	0.913	0.91505	0.320	0.87875	D	0.637	0.87313	D	10	0.037638843	0.02130	T	.	.	.	0.707	0.89514	.	.	0.898296813337	0.89728	0.8702632220315178	0.86992	0.419777840034	0.42519	0.74913829565	0.74320	T	0.81634	0.95462	D	-0.144364	0.29199	T	0.0220503	0.71763	D	0.0671734759478568	0.08248	T	0.979302	0.92791	D	0.7039727	0.78274	0.68975693	0.81747	0.7694865	0.82018	0.7239651	0.83698	-9.19	0.68912	D	0.8335943025557462	0.90384	0.286	0.51832	B	.	.	4.460144	0.69407	25.4	0.99765108438073646	0.85417	0.83216	0.42352	D	AEFDGBCI	0.699248	0.65665	D	0.146017693718751	0.48623	3.072358	0.00651769649618139	0.40018	2.381575	0.999990522677494	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.82	0.679	0.17141	0.497000	0.22222	0.901000	0.22550	-0.180000	0.10397	0.995000	0.38783	0.999000	0.35428	0.990000	0.65344	0.5329:0.4671:0.0:0.0	13.623	0.61617	801	0.44448	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1820.98	36	chr2	218882255	.	C	T	1820.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.449;DP=868;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=0.085;SOR=0.719	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr2	219004186	219004188	TCT	-	exonic	CFAP65	.	nonframeshift deletion	CFAP65:NM_194302:exon33:c.5319_5321del:p.E1774del,	.	.	370	1149	3	0	0	3	0.00130378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	.	0.0002	0.0002	0.0008	0.0002	0	9.016e-05	0.0011	0.0002	0.0001552	24	154602	rs781553221	0.0002	0.0002	0.0002	0.0003	0.0016	0.0002	0.0002	0.0008	0.0006	0.0001	0.0005	0	0	0	0.0016	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	4.816e-05	0	0.0001	0	0	0	0.0034	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1289.94	34	chr2	219004185	.	CTCT	C	1289.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=772;ExcessHet=0.0000;FS=2.347;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.85;ReadPosRankSum=0.855;SOR=0.425	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1325	20	0	1	0
chr2	219029469	219029469	G	T	exonic	CFAP65	.	nonsynonymous SNV	CFAP65:NM_001278296:exon10:c.C1389A:p.H463Q	.	.	425	1087	10	0	0	10	0.00457875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.557	P	0.111	B	0.705	N	1.000	D	2.015	M	3.59	T	-0.935	T	0.021	T	0.217	1.197	9.864	5.18	2.688	1.385	7.942	0.122	0.00514401937025	0.0004	0.000599042	0.0008	0	0.0014	0	0.0003	0.0011	0.0067	0.0003	0.0008085	125	154602	rs150200816	0.0005	0.0005	0.0005	0.0006	0.0057	0.0005	0.0005	0.0042	0.0037	0.0003	0.0020	0.0048	0	0.0001	0.0057	0.0003	0.0014	0.0006	0.0007	0.0007	0.0006	0.0008	0.0026	0.0006	0.0005	0.0020	0.0017	9.622e-05	0	0.0026	0.0058	0	0.0002	0	0.0003	0.0033	0.0010	0.451	0.10245	T	0.081	0.41742	T	0.557	0.38282	P	0.111	0.31539	B	0.705304	0.06227	N	1.166910	0.954511	0.26367	N	.	.	.	3.59	0.06368	T	-1.17	0.45587	N	0.337	0.39659	-0.9353	0.43349	T	0.021	0.08686	T	10	0.0089583695	0.00203	T	0.005144	0.13063	T	0.122	0.33800	0.446	0.50466	0.5073929853	0.50376	0.31062789499850624	0.30975	0.0791058433363	0.08898	0.219812646508	0.01299	T	0.025872	0.22241	T	-0.568736	0.00225	T	-0.59699	0.13065	T	0.0331956601018521	0.02503	T	0.541246	0.18617	T	0.097028	0.22865	0.08611691	0.19930	0.097028	0.22865	0.08611691	0.19929	-4.961	0.36414	T	.	.	0.135	0.31882	B	.;.;.;.;.	.;.;.;.;.	2.035897	0.25880	16.92	0.89779770804195913	0.19094	0.52168	0.29067	D	AEFDBCI	0.236329	0.35879	N	0.0325215651298387	0.43340	2.628782	0.121790523639878	0.45664	2.825702	0.802862119828783	0.24217	0.554377	0.28877	0	0.615948	0.52940	0	0.602189	0.34648	0	0.584449	0.35598	0	.	.	5.18	5.18	0.71140	1.429000	0.34511	3.374000	0.37954	0.676000	0.76740	0.875000	0.30889	1.000000	0.68203	0.789000	0.37270	0.0864:0.2137:0.6999:0.0	7.942	0.29125	595	0.68488	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	7461.66	40	chr2	219029469	.	G	T	7461.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.775e+00;DP=1045;ExcessHet=0.0000;FS=0.954;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=21.26;ReadPosRankSum=0.604;SOR=0.779	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1189	19	1	1	0
chr2	219035598	219035598	T	G	exonic	CFAP65	.	nonsynonymous SNV	CFAP65:NM_001278296:exon4:c.A229C:p.I77L	.	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.454	P	0.183	B	0.475	N	1.000	N	1.79	L	1.6	T	-1.070	T	0.019	T	0.213	3.451	17.69	-7.63	-0.882	-0.693	6.353	0.025	.	0.0005	0.0071885	0.0036	0.0002	0	0.0466	0	0.0004	0.0033	0.0002	0.00326	504	154602	rs75663378	0.0011	0.0011	0.0011	0.0011	0.0318	0.0011	0.0011	0.0304	0.0298	5.974e-05	2.236e-05	0.0002	0.0318	5.616e-05	0	0.0002	0.0014	0.0002	0.0018	0.0018	0.0013	0.0023	0.0441	0.0016	0.0015	0.0394	0.0376	0.0002	0	0	0.0009	0.0441	0	0	0.0004	0.0014	0.0008	0.219	0.41915	T	0.021	0.92824	D	0.053	0.22573	B	0.022	0.19653	B	0.475097	0.12231	N	0.700200	0.999582	0.20930	N	.	.	.	1.6	0.28604	T	-0.48	0.21860	N	0.292	0.33030	-1.0702	0.09370	T	0.019	0.08033	T	10	0.0034270287	0.00060	T	.	.	.	0.025	0.05312	.	.	0.214338557667	0.21045	0.25884908083715663	0.25798	0.0816263488406	0.09187	0.325879335403	0.14310	T	0.032807	0.22648	T	-0.613135	0.00121	T	-0.612522	0.11781	T	0.00969948854250371	0.00127	T	0.721628	0.35686	T	0.08688568	0.20210	0.06664217	0.13680	0.08688568	0.20210	0.06664217	0.13680	-2.247	0.10010	T	.	.	0.121	0.52252	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.614453	0.09830	6.592	0.93637158098150208	0.23514	0.11540	0.16701	N	AEFBI	0.205932	0.33224	N	-0.789253153377991	0.13589	0.6705467	-0.859833901620405	0.13051	0.6749338	0.374785222071486	0.19904	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.39	-7.63	0.01150	-0.643000	0.05518	-5.371000	0.01744	0.661000	0.55757	0.005000	0.17040	0.000000	0.08366	0.954000	0.50415	0.3643:0.3639:0.0:0.2717	6.353	0.20588	591	0.68823	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1251.98	34	chr2	219035598	.	T	G	1251.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.101e+00;DP=841;ExcessHet=0.0000;FS=0.803;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=-5.980e-01;SOR=0.850	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1276	20	0	1	0
chr2	219178513	219178513	C	G	exonic	RETREG2	.	nonsynonymous SNV	RETREG2:NM_024293:exon1:c.C161G:p.T54R,	.	.	387	1129	6	0	0	6	0.00265018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.181	B	0.022	B	0.011	N	0.812	N	0.55	N	1.52	T	-1.065	T	0.038	T	0.438	1.972	12.55	3.28	0.685	0.810	5.818	0.063	.	.	0.00119808	0.0044	0.0034	0	0	0	0	0	0.0108	0.0002264	35	154602	rs556058840	0.0002	0.0003	0.0002	0.0003	0.0041	0.0002	0.0002	0.0037	0.0036	4.129e-05	0	0	0	2.932e-05	0.0005	2.68e-05	0.0004	0.0041	0.0002	0.0002	0.0001	0.0002	0.0042	0.0001	9.243e-05	0.0028	0.0023	0	0	0	0	0.0002	0	0	2.942e-05	0.0005	0.0042	0.022	0.48642	D	0.085	0.41074	T	0.181	0.29111	B	0.022	0.19653	B	0.010796	0.29783	N	0.311804	0.811917	0.28990	N	.	.	.	1.52	0.30669	T	-0.51	0.15986	N	0.286	0.32370	-1.0649	0.10572	T	0.038	0.16505	T	10	0.0051938593	0.00113	T	.	.	.	0.063	0.18251	0.464	0.53404	0.117191471859	0.11215	0.3117791947927422	0.31090	0.208122492365	0.23283	0.945761620998	0.99645	D	0.005132	0.04570	T	-0.460042	0.00983	T	-0.432779	0.29619	T	0.0543628626999794	0.06250	T	0.530047	0.17581	T	0.07831767	0.17829	0.11772964	0.28420	0.07831767	0.17828	0.11772964	0.28420	-1.647	0.02094	T	.	.	0.115	0.23113	B	.	.	2.520039	0.32562	19.08	0.92797263799539431	0.22319	0.94190	0.60386	D	ALL	0.198985	0.32581	N	-0.378774148038991	0.26227	1.429756	-0.24696250717891	0.29875	1.677426	0.999999999280449	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.581474	0.35302	0	.	.	4.19	3.28	0.36691	1.932000	0.39773	1.542000	0.27234	-0.309000	0.06099	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.2081:0.6907:0.0:0.1012	5.818	0.17768	496	0.76301	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	372.98	35	chr2	219178513	.	C	G	372.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.93;DP=762;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.31;ReadPosRankSum=-2.429e+00;SOR=0.804	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1089	20	0	1	0
chr2	219230327	219230327	C	G	exonic	ANKZF1	.	nonsynonymous SNV	ANKZF1:NM_001042410:exon2:c.C70G:p.P24A	.	.	435	1085	2	0	0	2	0.00092081	.	.	1345738	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.34	T	0.122	B	0.059	B	0.330	N	0.592	N	1.67	L	1.85	T	-1.030	T	0.050	T	0.272	1.129	9.602	2.73	0.882	0.196	4.570	0.036	0.00573193283726	0.0002	.	5.015e-05	0	0.0002	0	0	6.066e-05	0	0	4.53e-05	7	154602	rs372243770	6.157e-05	6.293e-05	5.99e-05	6.326e-05	0.0005	5.095e-05	4.715e-05	0.0003	0.0003	0	0.0005	0	0	0	0	5.486e-05	4.968e-05	5.798e-05	6.569e-05	6.566e-05	6.422e-05	6.723e-05	0.0003	3.516e-05	2.616e-05	8.877e-05	5.386e-05	2.412e-05	0	0.0003	0	0	0	0	2.939e-05	0.0014	0	0.532	0.41637	T	0.668	0.92824	T	0.075	0.24198	B	0.027	0.21085	B	0.329999	0.14130	N	0.718707	0.999845	0.31011	N	2.325	0.66631	M	1.85	0.24472	T	-1.08	0.96495	N	0.287	0.32481	-1.0298	0.20519	T	0.050	0.21222	T	10	0.059838295	0.07256	T	0.005732	0.14862	T	0.036	0.09122	.	.	0.555867075214	0.55247	0.1718900934841166	0.17109	0.110943649586	0.12524	0.433737635612	0.29719	T	0.002697	0.42389	T	-0.400117	0.02311	T	-0.478367	0.24620	T	0.0585170384869688	0.06932	T	0.580842	0.45757	T	0.050960246	0.09288	0.0655022	0.13284	0.050960246	0.09287	0.0655022	0.13283	-2.162	0.03860	T	.	.	0.060	0.06849	B	.;.;.;.;.	.;.;.;.;.	1.481081	0.19065	14.07	0.85755232149730631	0.16092	0.07958	0.13942	N	ALL	0.060196	0.11424	N	-0.549927170548765	0.20486	1.08028	-0.519454373841407	0.21626	1.170751	0.99999999998381	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	5.65	2.73	0.31266	0.221000	0.17463	1.652000	0.27851	0.594000	0.32500	0.014000	0.18986	0.024000	0.20971	0.424000	0.27317	0.157:0.6083:0.1518:0.0829	4.570	0.11600	546	0.72524	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1082.98	35	chr2	219230327	.	C	G	1082.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.735;DP=790;ExcessHet=0.0000;FS=1.695;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=0.552;SOR=0.590	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1110	20	0	1	0
chr2	219239114	219239114	G	A	exonic	GLB1L	.	nonsynonymous SNV	GLB1L:NM_001286427:exon8:c.C770T:p.A257V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.884	P	0.339	B	0.000	D	1.000	D	2.295	M	-4.75	D	0.834	D	0.878	D	0.367	3.314	17.14	4.74	2.937	4.646	9.888	0.581	0.0914000139502	.	.	1.648e-05	0	0	0	0	1.5e-05	0	6.058e-05	1.29e-05	2	154602	rs778219795	2.055e-06	2.052e-06	1.363e-06	2.753e-06	2.32e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	0	1.658e-05	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.022	0.57587	D	0.884	0.48618	P	0.339	0.42346	B	0.000002	0.62929	D	0.099485	0.999913	0.51042	D	1.9	0.50570	L	-4.75	0.98096	D	-3.1	0.67014	D	0.445	0.48411	0.834	0.94827	D	0.878	0.95945	D	10	0.44581026	0.58388	T	0.091	0.75699	D	0.581	0.83137	0.594	0.72371	0.921619882418	0.92082	0.838375923516556	0.83797	0.288172231167	0.31226	0.467142701149	0.34288	T	0.856751	0.96787	D	0.10945	0.65294	D	0.0200714	0.71635	D	0.939858973026276	0.61167	D	0.864914	0.56300	D	0.25219017	0.48232	0.23847152	0.49170	0.25219017	0.48232	0.23847152	0.49169	-6.652	0.57017	T	.	.	0.148	0.33319	B	.;.;.	.;.;.	4.047189	0.59964	24.2	0.99720897976497125	0.82054	0.93146	0.57445	D	AEFBCI	0.748875	0.69049	D	0.513931810312543	0.67914	5.145577	0.567073545251784	0.72592	5.834422	0.999858400130708	0.44174	0.634777	0.41761	0	0.601575	0.49859	0	0.696353	0.63694	0	0.645665	0.59343	0	.	.	5.64	4.74	0.59717	4.943000	0.63255	9.973000	0.82874	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0701:0.0:0.7927:0.1372	9.888	0.40443	546	0.72524	Glycoside hydrolase 35, catalytic domain;.;Glycoside hydrolase 35, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1194.98	34	chr2	219239114	.	G	A	1194.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.018e+00;DP=785;ExcessHet=0.0000;FS=0.756;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=1.51;SOR=0.592	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1384	20	0	1	0
chr2	219242541	219242541	C	T	exonic	GLB1L	.	nonsynonymous SNV	GLB1L:NM_001286427:exon4:c.G424A:p.E142K	.	.	423	1092	7	0	0	7	0.00319489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.0	B	0.005	B	0.894	N	1.000	N	0.16	N	-4.63	D	0.017	D	0.759	D	0.319	1.156	9.708	-0.962	-0.051	0.062	10.141	0.361	0.0418939391454	.	0.00159744	0.0011	9.617e-05	0	0	0	0	0	0.0077	0.0009056	140	154602	rs553553552	0.0005	0.0005	0.0003	0.0007	0.0082	0.0005	0.0005	0.0077	0.0075	2.987e-05	0	0	0	0	0.0002	1.709e-05	0.0004	0.0082	0.0003	0.0003	0.0001	0.0005	0.0091	0.0002	0.0002	0.0070	0.0062	0	0	0	0	0	0	0	0	0	0.0091	0.413	0.10412	T	0.743	0.07082	T	0.0	0.02946	B	0.005	0.11217	B	0.893616	0.08670	N	0.957715	1	0.08975	N	0.285	0.10073	N	-4.63	0.97902	D	-0.68	0.19509	N	0.119	0.10911	0.017	0.82598	D	0.759	0.91781	D	10	0.006966859	0.00158	T	0.041894	0.60175	D	0.361	0.68141	0.492	0.57890	0.464528537357	0.46081	0.6889280717662588	0.68832	0.11825938987	0.13311	0.24422480166	0.03184	T	0.580747	0.86267	D	-0.260269	0.12869	T	-0.141649	0.59976	T	0.0112691339831446	0.00166	T	0.845515	0.52437	T	0.04988787	0.08929	0.048656218	0.07272	0.04988787	0.08928	0.048656218	0.07272	-2.21	0.04089	T	.	.	0.079	0.22897	B	.;.;.	.;.;.	1.697807	0.21627	15.28	0.95756933283629642	0.27739	0.06951	0.12977	N	AEFBI	0.073548	0.14714	N	-1.08158657398868	0.06982	0.3230331	-1.01497655503439	0.09455	0.4705164	0.999626736971431	0.41093	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	5.65	-0.962	0.09806	0.012000	0.13184	1.180000	0.24688	-0.181000	0.10308	0.003000	0.16062	1.000000	0.68203	0.856000	0.40543	0.0:0.4549:0.0:0.5451	10.141	0.41909	539	0.73055	Glycoside hydrolase 35, catalytic domain;.;Glycoside hydrolase 35, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1557.98	33	chr2	219242541	.	C	T	1557.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.635;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=-1.220e+00;SOR=0.654	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1079	20	0	1	0
chr2	219243275	219243275	G	A	exonic	GLB1L	.	nonsynonymous SNV	GLB1L:NM_001286427:exon2:c.C112T:p.R38W	.	.	428	1085	9	0	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.97	D	0.000	D	0.939	N	1.935	M	-4.66	D	0.491	D	0.871	D	0.453	3.977	20.4	-3.5	-0.399	1.463	5.273	0.575	.	0.0087	0.00259585	0.0068	0.0014	0.0040	0	0.0044	0.0108	0.0067	0.0007	0.0068822	1064	154602	rs147143842	0.0099	0.0099	0.0101	0.0097	0.0114	0.0098	0.0097	0.0113	0.0112	0.0015	0.0044	0.0207	0	0.0060	0.0061	0.0114	0.0093	0.0007	0.0070	0.0070	0.0074	0.0066	0.0112	0.0067	0.0065	0.0105	0.0103	0.0016	0.0077	0.0065	0.0184	0	0.0040	0.0170	0.0112	0.0095	0.0004	0.024	0.51853	D	0.026	0.55759	D	1.0	0.90584	D	0.97	0.72226	D	0.000137	0.49741	D	0.202993	0.938989	0.37244	D	1.385	0.34509	L	-4.66	0.97956	D	-1.72	0.62518	N	0.561	0.59053	0.491	0.90426	D	0.871	0.95714	D	10	0.01218161	0.00263	T	.	.	.	0.575	0.82799	.	.	0.925340796799	0.92457	0.9046638995884472	0.90439	0.477561364981	0.46870	0.378485739231	0.22042	T	0.329703	0.69997	T	-0.166765	0.25724	T	-0.00129239	0.70252	D	0.0284773564498797	0.01757	T	0.979469	0.92930	D	0.06440651	0.13662	0.06209622	0.12097	0.06440651	0.13662	0.06209622	0.12097	-9.983	0.78021	D	.	.	0.217	0.48685	B	.;.;.;.	.;.;.;.	3.809092	0.54931	23.5	0.99699522597256462	0.80522	0.43034	0.27009	N	AEFDBI	.	.	.	-0.215767279576666	0.32486	1.832623	-0.37052429556196	0.25880	1.426008	0.999891463691938	0.45129	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.272564	0.05371	3	.	.	5.49	-3.5	0.04411	1.446000	0.34701	0.044000	0.13909	-0.114000	0.14653	1.000000	0.71638	0.006000	0.19429	0.970000	0.54328	0.1871:0.0688:0.5034:0.2407	5.273	0.14947	535	0.73288	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1255.98	35	chr2	219243275	.	G	A	1255.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.02;DP=826;ExcessHet=0.0000;FS=1.515;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=-3.480e-01;SOR=0.797	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1339	20	0	1	0
chr2	219270327	219270327	C	T	exonic	TUBA4B	.	nonsynonymous SNV	TUBA4B:NM_001355221:exon3:c.C184T:p.R62W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs569466001	2.92e-05	3.021e-05	2.629e-05	3.164e-05	0.0002	1.778e-05	1.453e-05	2.29e-05	1.787e-05	0.0001	0	0	0	0	0.0002	3.929e-05	0	1.534e-05	2.629e-05	2.627e-05	2.57e-05	2.691e-05	2.939e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.415e-05	0.0011	0	0	0	0	0	2.939e-05	0	0	.	.	.	0.017	0.60337	D	0.031	0.20130	B	0.019	0.18783	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.36779	.	.	.	.	.	.	.	0.13858974	0.26357	T	.	.	.	.	.	.	.	.	.	0.5933426054626444	0.59264	.	.	0.217527538538	0.01172	T	0.408546	0.76384	T	.	.	.	.	.	.	.	.	.	0.878612	0.59406	D	0.11802175	0.27814	0.082768425	0.18916	0.11802175	0.27814	0.082768425	0.18916	-6.949	0.53661	T	.	.	0.096	0.15251	B	.	.	1.406547	0.18215	13.61	0.59186468833260597	0.06165	0.78593	0.38798	D	AEFGBHCI	.	.	.	.	.	.	.	.	.	0.999838759412974	0.43792	0.07523	0.01759	0	0.109994	0.03358	0	0.060301	0.00762	0	0.075334	0.01956	0	0.145805	0.27098	4.0	0.145	0.14124	1.325000	0.33330	-1.625000	0.05036	-1.295000	0.01250	0.827000	0.30089	0.000000	0.08366	0.001000	0.02609	0.0:0.707:0.0:0.293	9.169	0.36229	411	0.82069	Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2153.98	34	chr2	219270327	.	C	T	2153.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.563;DP=885;ExcessHet=0.0000;FS=0.562;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=0.556;SOR=0.646	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1238	20	0	1	0
chr2	219300042	219300042	C	T	exonic	PTPRN	.	nonsynonymous SNV	PTPRN:NM_001199763:exon9:c.G1379A:p.G460E	.	.	423	1089	10	0	0	10	0.00457038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.155	N	1.000	N	0.345	N	4.03	T	-0.907	T	0.005	T	0.093	-1.602	0.014	2.37	1.031	0.393	3.150	0.033	.	.	0.00259585	0.0016	9.623e-05	0.0005	0	0	0.0003	0.0077	0.01	0.0013842	214	154602	rs200184183	0.0007	0.0007	0.0004	0.0010	0.0094	0.0007	0.0007	0.0089	0.0087	2.987e-05	0.0001	0.0012	0	0	0.0010	0.0001	0.0008	0.0094	0.0005	0.0005	0.0003	0.0007	0.0099	0.0004	0.0004	0.0077	0.0069	0	0	0	0.0012	0.0002	0	0.0170	0.0002	0	0.0099	0.044	0.41096	D	0.84	0.13792	T	0.0	0.02946	B	0.001	0.04355	B	0.154834	0.17849	N	0.541618	1	0.08975	N	1.04	0.26193	L	4.03	0.03208	T	-0.68	0.22078	N	0.18	0.19459	-0.9070	0.47215	T	0.005	0.01797	T	10	0.0048052967	0.00102	T	.	.	.	0.033	0.08068	.	.	0.31411915649	0.31020	0.2274703603959591	0.22662	0.126750937996	0.14284	0.318410158157	0.13181	T	0.160316	0.50411	T	-0.665992	0.00058	T	-0.721751	0.04711	T	0.00995866925869084	0.00133	T	0.865113	0.56350	D	0.048470564	0.08453	0.05674674	0.10194	0.048470564	0.08452	0.05674674	0.10193	-3.31	0.25481	T	.	.	0.132	0.28435	B	.;.;.	.;.;.	1.359630	0.17685	13.31	0.63562356176249368	0.07257	0.02592	0.07153	N	AEFDBI	0.091323	0.18500	N	-0.969139738591043	0.09268	0.4379261	-0.896627122801785	0.12174	0.6246631	0.99975300935498	0.42595	0.646311	0.45356	0	0.627178	0.54094	0	0.645312	0.48771	0	0.530356	0.10902	0	.	.	4.36	2.37	0.28337	0.262000	0.18229	1.094000	0.24007	0.599000	0.40250	0.001000	0.13787	0.216000	0.23679	0.162000	0.20715	0.0:0.4744:0.2198:0.3058	3.150	0.06097	142	0.94345	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1482.98	34	chr2	219300042	.	C	T	1482.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.263;DP=845;ExcessHet=0.0000;FS=3.227;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=0.947;SOR=0.558	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1174	20	0	1	0
chr2	219302220	219302220	C	T	exonic	PTPRN	.	nonsynonymous SNV	PTPRN:NM_001199763:exon6:c.G911A:p.R304Q	.	.	.	.	.	.	.	.	.	.	.	3314881	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.34	T	0.008	B	0.001	B	0.639	N	1.000	N	0.345	N	3.92	T	-0.923	T	0.006	T	0.074	0.099	4.533	-8.89	-1.852	-1.293	7.356	0.032	0.0146353299947	.	.	9.091e-05	0	0.0002	0	0	4.509e-05	0.0011	0.0003	7.12e-05	11	154602	rs774557351	6.088e-05	6.088e-05	5.581e-05	6.601e-05	0.0003	5.028e-05	4.672e-05	0.0001	8.646e-05	2.987e-05	6.709e-05	7.656e-05	0.0002	0	0.0003	4.856e-05	8.279e-05	0.0002	3.286e-05	3.283e-05	3.854e-05	2.69e-05	6.54e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	0	0	6.54e-05	0	0	0	0	5.881e-05	0	0	0.297	0.15613	T	0.547	0.09522	T	0.003	0.11197	B	0.0	0.01387	B	0.638829	0.05855	N	1.210680	0.999965	0.18878	N	-0.145	0.04423	N	3.89	0.03544	T	0.62	0.02442	N	0.18	0.19459	-0.9229	0.45155	T	0.006	0.02093	T	10	0.03351745	0.01530	T	0.014635	0.34889	T	0.032	0.07718	0.346	0.34112	0.139678290688	0.13603	0.2427766035522714	0.24191	0.111870884816	0.12619	0.239109739661	0.02711	T	0.082763	0.36902	T	-0.614112	0.00120	T	-0.823713	0.01379	T	0.0339022413289741	0.02621	T	0.720328	0.33319	T	0.024251912	0.01238	0.038621854	0.03770	0.024251912	0.01238	0.038621854	0.03770	-3.472	0.17828	T	.	.	0.069	0.03060	B	.;.;.	.;.;.	-0.860915	0.00993	0.040	0.72563453015034041	0.10017	0.00855	0.03408	N	AEFDBI	0.077847	0.15692	N	-1.71057986504272	0.00805	0.03478663	-1.77738491330118	0.00834	0.03726689	0.999998562269462	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	4.58	-8.89	0.00676	-1.429000	0.02543	-6.666000	0.01337	-1.719000	0.00732	0.027000	0.20232	0.000000	0.08366	0.028000	0.12845	0.0:0.2975:0.1961:0.5063	7.356	0.25892	140	0.94439	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	873.98	74	chr2	219302220	.	C	T	873.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.150;DP=775;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.81;ReadPosRankSum=0.222;SOR=0.614	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1264	20	0	1	0
chr2	219386052	219386052	C	T	exonic	DNPEP	.	nonsynonymous SNV	DNPEP:NM_001319116:exon6:c.G530A:p.R177Q	.	.	.	.	.	.	.	.	.	.	.	3241094	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.836	P	0.000	D	1.000	D	2.49	M	.	.	-0.151	T	0.396	T	0.72	4.087	21.0	3.97	1.002	4.477	14.986	0.289	0.0531999850453	.	.	0.0002	0	0	0	0	0.0003	0	0	0.0001423	22	154602	rs762809116	7.867e-05	7.867e-05	7.895e-05	7.838e-05	0.0007	6.666e-05	6.201e-05	0.0002	0.0001	0	2.236e-05	0	0	7.489e-05	0.0007	8.993e-05	4.967e-05	3.478e-05	5.259e-05	5.253e-05	5.14e-05	5.383e-05	8.82e-05	2.558e-05	1.831e-05	3.762e-05	2.575e-05	2.415e-05	0	6.546e-05	0	0	0	0	8.82e-05	0	0	0.015	0.52492	D	0.086	0.40909	T	0.966	0.56202	D	0.3	0.41053	B	0.000005	0.62929	D	0.058496	1	0.81001	D	.	.	.	.	.	.	-2.66	0.60348	D	0.337	0.38129	-0.1507	0.78899	T	0.396	0.74844	T	9	0.43966845	0.58020	T	0.053	0.65376	D	0.289	0.60808	0.503	0.59615	0.642832020782	0.63988	0.6494971933667791	0.64885	0.257449108574	0.28308	0.436513721943	0.30100	T	0.157716	0.50578	T	-0.0180362	0.49132	T	0.0311506	0.72353	D	0.258131504058838	0.23233	T	0.961204	0.85427	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.22500	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.578540	0.50435	22.9	0.9991676290492888	0.98449	0.95019	0.63143	D	AEFDBCI	0.825527	0.74520	D	0.376050405387955	0.60126	4.19832	0.323936939817596	0.56950	3.859265	0.999999999926667	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.87	3.97	0.45241	3.695000	0.54481	1.665000	0.27922	0.596000	0.33519	1.000000	0.71638	0.539000	0.25405	0.978000	0.57271	0.0:0.8564:0.1436:0.0	14.986	0.71003	86	0.96395	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1655.98	33	chr2	219386052	.	C	T	1655.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.358;DP=800;ExcessHet=0.0000;FS=2.213;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.70;ReadPosRankSum=2.02;SOR=0.452	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1186	20	0	1	0
chr2	219497848	219497848	G	C	exonic	SPEGNB	.	nonsynonymous SNV	SPEGNB:NM_001286811:exon3:c.G565C:p.E189Q,	.	.	408	1112	2	0	0	2	0.000898473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.861	T	0.211	T	.	0.677	7.620	3.01	0.612	0.400	8.815	0.057	.	.	.	0.0001	0	0	0	0	0.0004	0	0	1.29e-05	2	154602	rs779771208	2.344e-05	1.984e-05	1.874e-05	2.833e-05	0.0020	1.605e-05	1.376e-05	0.0011	0.0008	0	0	0.0004	0	0	0.0020	2.172e-06	7.208e-05	7.875e-05	6.57e-06	6.567e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	.	.	.	0.088	0.40586	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.21580	.	.	.	.	.	.	.	0.07130873	0.10493	T	.	.	.	.	.	.	.	0.168254554758	0.16434	.	.	.	.	.	.	.	.	.	.	-0.216483	0.18476	T	-0.42096	0.30966	T	0.180343508720398	0.19256	T	0.741226	0.36032	T	.	.	.	.	.	.	.	.	-4.346	0.28816	T	.	.	0.118	0.24226	B	.	.	2.451643	0.31569	18.78	0.8893676100533433	0.18376	0.50254	0.28620	D	AEFBCI	0.187427	0.31472	N	-0.183444132116183	0.33823	1.923389	-0.215031736244896	0.30995	1.750139	0.999998556023221	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.503968	0.08637	0	0.603991	0.37454	0	.	.	4.83	3.01	0.33872	0.424000	0.21049	1.698000	0.28113	0.676000	0.76740	0.314000	0.25450	0.097000	0.22620	0.996000	0.76049	0.1783:0.0:0.8217:0.0	8.815	0.34148	103	0.95740	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	896.98	41	chr2	219497848	.	G	C	896.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.610e-01;DP=847;ExcessHet=0.0000;FS=0.919;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=-2.760e-01;SOR=0.938	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1472	20	0	1	0
chr2	219506704	219506704	G	A	exonic	GMPPA	.	nonsynonymous SNV	GMPPA:NM_001374294:exon13:c.G1169A:p.R390Q	Alacrima, achalasia, and mental retardation syndrome, Autosomal recessive	.	405	1116	1	0	0	1	0.000447828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.121	B	0.024	B	0.000	D	0.761	D	0.345	N	2.32	T	-1.062	T	0.023	T	0.302	1.898	12.30	4.08	1.977	4.969	7.857	0.060	0.110858009647	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1467274040	5.558e-06	1.232e-05	6.929e-06	4.179e-06	0.0003	2.39e-06	1.73e-06	6.121e-05	2.532e-05	0	0	0	0	0	0.0003	2.747e-06	3.356e-05	1.166e-05	1.317e-05	1.314e-05	2.573e-05	0	2.419e-05	2.19e-06	8.2e-07	.	.	2.419e-05	0	0	0	0	0	0	1.471e-05	0	0	0.375	0.11370	T	0.478	0.11968	T	0.041	0.26708	B	0.011	0.20255	B	0.000289	0.46274	D	0.137045	0.760725	0.34035	D	0.205	0.09354	N	2.32	0.17271	T	0.05	0.06868	N	0.191	0.29197	-1.0621	0.11239	T	0.023	0.09787	T	10	0.1794127	0.33075	T	0.110858	0.78841	D	0.060	0.17295	0.664	0.80199	0.41219620536	0.40839	0.62835393200078	0.62768	0.463344262132	0.45844	0.666297912598	0.62310	T	0.27163	0.64398	T	-0.0692943	0.41439	T	-0.155166	0.58785	T	0.315845936536789	0.25653	T	0.928707	0.82144	D	0.04058846	0.05820	0.036947172	0.03245	0.04058846	0.05820	0.036947172	0.03244	-4.321	0.28470	T	.	.	0.086	0.10883	B	.;.;.;.;.	.;.;.;.;.	4.529990	0.71108	25.6	0.98701857635669821	0.44924	0.87661	0.47275	D	AEFDBCI	0.638729	0.61704	D	-0.172957234295375	0.34264	1.953623	-0.010969219537068	0.39218	2.322028	0.99991917128053	0.45857	0.730579	0.87903	0	0.724815	0.89359	0	0.749866	0.98131	0	0.714379	0.83352	0	.	.	4.08	4.08	0.46880	6.256000	0.72433	11.751000	0.95409	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.1918:0.0:0.8082:0.0	7.857	0.28647	96	0.96030	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1160.98	34	chr2	219506704	.	G	A	1160.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.516;DP=850;ExcessHet=0.0000;FS=0.780;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.76;ReadPosRankSum=-2.470e-01;SOR=0.789	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr2	219547901	219547901	G	A	exonic	TMEM198	.	nonsynonymous SNV	TMEM198:NM_001005209:exon3:c.G562A:p.A188T	.	.	435	1086	1	0	0	1	0.000460193	.	.	2216962	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	0.125	B	0.042	B	0.012	N	1.000	N	-0.205	N	.	.	-1.052	T	0.041	T	0.136	3.129	16.46	3.97	2.219	2.997	10.014	0.070	0.00814605282033	.	.	4.637e-05	0	0	0	0	6.281e-05	0	7.577e-05	3.23e-05	5	154602	rs757055985	5.333e-05	5.951e-05	6.204e-05	4.453e-05	0.0004	4.331e-05	4.002e-05	6.228e-05	4.43e-05	0	2.258e-05	3.846e-05	0	0	0.0004	6.035e-05	6.661e-05	2.335e-05	1.971e-05	1.97e-05	1.284e-05	2.69e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.374	0.11406	T	0.506	0.16328	T	0.125	0.26866	B	0.042	0.24114	B	0.012100	0.29294	N	0.346611	1	0.08975	N	0.255	0.09829	N	.	.	.	-0.41	0.14000	N	0.123	0.11483	-1.0525	0.13709	T	0.041	0.17573	T	9	0.12872702	0.24489	T	0.008146	0.21598	T	0.070	0.20419	0.385	0.40460	0.0716867268079	0.06686	0.5500360897500179	0.54929	0.762172987685	0.64322	0.735573887825	0.72322	T	0.007531	0.07935	T	-0.187881	0.22570	T	-0.507654	0.21557	T	0.0797757833413998	0.09958	T	0.827517	0.49142	T	0.061662275	0.12792	0.070773855	0.15078	0.061662275	0.12792	0.070773855	0.15077	-4.712	0.33549	T	.	.	0.084	0.09772	B	.;.;.	.;.;.	4.030448	0.59597	24.1	0.99830518933570311	0.91198	0.38585	0.26021	N	AEFBI	0.270065	0.38621	N	-0.449298788843079	0.23763	1.278432	-0.328470884759178	0.27183	1.506609	0.999812008237653	0.43459	0.660377	0.49826	0	0.610034	0.51514	0	0.696353	0.63694	0	0.542086	0.14980	0	.	.	3.97	3.97	0.45241	3.520000	0.53221	7.482000	0.59270	0.618000	0.50648	0.488000	0.26863	1.000000	0.68203	0.987000	0.62547	0.0962:0.0:0.9038:0.0	10.014	0.41178	114	0.95383	Domain of unknown function DUF4203;Domain of unknown function DUF4203;Domain of unknown function DUF4203	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1041.98	35	chr2	219547901	.	G	A	1041.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.082e+00;DP=832;ExcessHet=0.0000;FS=5.452;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=-1.300e-02;SOR=0.326	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1268	20	0	1	0
chr2	219570260	219570260	C	T	exonic	OBSL1	.	nonsynonymous SNV	OBSL1:NM_001173408:exon1:c.G973A:p.A325T	3-M syndrome 2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	.	.	1.000	D	2.68	M	-0.29	T	0.133	D	0.523	D	0.368	4.042	20.7	4.8	2.491	3.884	18.023	0.493	0.154848520199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.38407	T	0.008	0.67890	D	0.999	0.90584	D	0.996	0.92359	D	.	.	.	.	1	0.81001	D	2.41	0.69639	M	-0.29	0.67712	T	-2.31	0.51319	N	0.354	0.54671	0.133	0.84768	D	0.523	0.82230	D	9	0.45845473	0.59136	T	0.154849	0.83589	D	0.493	0.77910	0.726	0.86024	0.696565107391	0.69394	0.6009250472064176	0.60023	0.644217916361	0.57924	0.810928344727	0.83634	D	0.051462	0.28885	T	-0.00111912	0.51500	T	-0.239384	0.50859	T	0.922293603420258	0.58237	D	0.883612	0.60617	D	0.3017762	0.53064	0.32972023	0.58849	0.3017762	0.53064	0.32972023	0.58848	-7.548	0.57996	D	.	.	0.346	0.56337	A	.;.;.;.	.;.;.;.	4.437535	0.68866	25.3	0.99882739480232596	0.95892	0.81637	0.41001	D	AEFDBHCI	0.539252	0.55630	D	0.617361603723543	0.74271	6.104613	0.527869372558248	0.69874	5.422841	0.999999986791439	0.74766	0.627647	0.40530	0	0.563428	0.19063	0	0.672317	0.60874	0	0.604282	0.37693	0	.	.	4.8	4.8	0.61157	4.019000	0.56893	7.664000	0.64404	0.580000	0.29708	0.994000	0.38300	1.000000	0.68203	0.942000	0.48361	0.0:1.0:0.0:0.0	18.023	0.89184	116	0.95299	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	790.98	36	chr2	219570260	.	C	T	790.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.690e-01;DP=789;ExcessHet=0.0000;FS=0.787;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.60;ReadPosRankSum=1.45;SOR=0.605	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1272	20	0	1	0
chr2	219570278	219570278	A	C	exonic	OBSL1	.	nonsynonymous SNV	OBSL1:NM_001173408:exon1:c.T955G:p.C319G	3-M syndrome 2	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.994	D	0.823	P	.	.	1.000	D	4.145	H	-0.89	T	0.659	D	0.671	D	0.874	4.413	23.4	4.8	2.014	9.047	14.485	0.832	0.407863586639	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1212505179	5.51e-06	5.472e-06	4.102e-06	6.939e-06	0.0002	2.37e-06	1.71e-06	1.95e-06	1.28e-06	0	0	0	0	0	0.0002	5.429e-06	0	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.61437	D	0.0	0.92824	D	0.786	0.66517	P	0.685	0.59197	P	.	.	.	.	1	0.81001	D	4.505	0.98992	H	-0.89	0.74793	T	-10.88	0.99356	D	0.791	0.95021	0.659	0.92664	D	0.671	0.88602	D	9	0.9796363	0.97896	D	0.407864	0.93535	D	0.832	0.94691	0.896	0.97596	0.962490328904	0.96209	0.9348046315734622	0.93460	0.755948700181	0.64012	0.863857328892	0.91678	D	0.433086	0.78064	T	0.289687	0.82131	D	0.278969	0.87069	D	0.999207556247711	0.96535	D	0.810419	0.46176	T	0.9140608	0.92677	0.79567474	0.87999	0.9140608	0.92678	0.79567474	0.88000	-9.057	0.68178	D	.	.	0.980	0.92404	P	.;.;.;.	.;.;.;.	4.763278	0.77037	26.6	0.97540870562974336	0.34512	0.95874	0.66525	D	AEFDGBHCI	0.977395	0.99720	D	0.821399678826651	0.87425	9.213507	0.725700905401955	0.84330	8.261989	0.99999999999986	0.74766	0.627647	0.40530	0	0.563428	0.19063	0	0.672317	0.60874	0	0.56751	0.32155	0	.	.	4.8	4.8	0.61157	9.293000	0.95144	11.211000	0.89399	0.731000	0.85647	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	1.0:0.0:0.0:0.0	14.485	0.67194	116	0.95299	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2035.98	136	chr2	219570278	.	A	C	2035.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.367;DP=886;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.97;ReadPosRankSum=-9.070e-01;SOR=0.648	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1272	20	0	1	0
chr2	219608392	219608392	A	G	exonic	STK11IP	.	nonsynonymous SNV	STK11IP:NM_052902:exon14:c.A1565G:p.E522G,	.	.	371	1145	5	1	0	7	0.00304745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.119	B	0.024	B	0.048	N	1.000	N	1.1	L	3.37	T	-0.980	T	0.014	T	0.151	1.417	10.68	-1.48	-0.066	0.139	1.525	0.047	0.00217011080565	0.0002	0.000798722	0.0003	0.0003	0	0	0	0.0003	0	0.0007	0.0002135	33	154602	rs369827406	0.0003	0.0003	0.0003	0.0003	0.0152	0.0003	0.0002	0.0126	0.0117	0.0002	0.0005	0.0012	0	0	0.0152	0.0002	0.0008	0.0005	0.0003	0.0003	0.0003	0.0003	0.0016	0.0003	0.0002	0.0011	0.0009	7.225e-05	0	0.0016	0.0003	0	0	0.0102	0.0003	0	0.0004	0.15	0.24661	T	0.005	0.72224	D	.	.	.	.	.	.	0.048305	0.01984	N	2.111440	1	0.08975	N	.	.	.	3.37	0.05847	T	-1.98	0.45769	N	0.154	0.15888	-0.9796	0.35094	T	0.014	0.05465	T	10	0.010678828	0.00237	T	0.00217	0.04071	T	0.047	0.12962	.	.	0.0884992946249	0.08302	0.2006983539454964	0.19986	.	.	0.207448452711	0.00708	T	0.013502	0.11669	T	-0.273437	0.11377	T	-0.63055	0.10373	T	0.00765861515961044	0.00089	T	0.288971	0.05229	T	0.058749415	0.11856	0.040235624	0.04303	0.058749415	0.11856	0.040235624	0.04302	-4.831	0.34951	T	.	.	0.080	0.07985	B	.	.	0.984802	0.13624	10.16	0.94235525896982819	0.24496	0.12790	0.17481	N	AEFDBI	0.069180	0.13680	N	-0.944707940669642	0.09812	0.466048	-0.996344348451302	0.09867	0.4934386	0.962008218869376	0.28592	0.719381	0.83141	0	0.723133	0.82719	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.44	-1.48	0.08286	0.245000	0.17917	0.898000	0.22526	0.756000	0.94297	0.208000	0.24400	0.033000	0.21346	0.313000	0.24807	0.3672:0.212:0.0775:0.3432	1.525	0.02371	147	0.94143	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	498.98	33	chr2	219608392	.	A	G	498.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.360e+00;DP=767;ExcessHet=0.0000;FS=6.369;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.85;ReadPosRankSum=-8.590e-01;SOR=1.144	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1164	20	0	1	0
chr2	219608702	219608702	C	T	exonic	STK11IP	.	nonsynonymous SNV	STK11IP:NM_052902:exon15:c.C1723T:p.R575C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.917	D	0.002	N	0.980	N	1.645	L	3.05	T	-1.125	T	0.044	T	0.501	3.386	17.42	4.39	2.282	2.054	9.684	0.137	0.0118011157842	.	0.000399361	0.0001	0	0.0003	0	0	0.0001	0	0	9.06e-05	14	154602	rs201039349	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	0	0.0002	0	0	1.882e-05	0	0.0002	0.0002	0	9.851e-05	9.842e-05	0.0002	2.686e-05	0.0002	6.003e-05	4.877e-05	0.0001	8.878e-05	2.407e-05	0	6.538e-05	0	0	0	0	0.0002	0	0	0.081	0.33418	T	0.077	0.42436	T	.	.	.	.	.	.	0.001788	0.37998	N	0.173348	0.980123	0.25134	N	.	.	.	3.05	0.08721	T	-5.1	0.83027	D	0.574	0.59648	-1.1250	0.02037	T	0.044	0.18742	T	10	0.23969603	0.41115	T	0.011801	0.29782	T	0.137	0.36984	.	.	0.190952846119	0.18690	0.5667632144712199	0.56604	.	.	0.449534535408	0.31880	T	.	.	.	-0.330621	0.06065	T	-0.433255	0.29565	T	0.678423345088959	0.39717	D	0.861914	0.55630	D	0.2569332	0.48735	0.1588936	0.37083	0.2569332	0.48735	0.1588936	0.37082	-7.044	0.54354	T	.	.	0.182	0.39494	B	.	.	4.549050	0.71574	25.7	0.99891645288953468	0.96589	0.69078	0.34047	D	AEFDBHI	0.214849	0.34028	N	0.310343750451041	0.56677	3.832979	0.221143704249939	0.51023	3.288453	0.999989538629614	0.51787	0.758104	0.99027	0	0.724815	0.89359	0	0.691618	0.62860	0	0.714379	0.83352	0	.	.	4.39	4.39	0.52211	1.752000	0.37977	3.226000	0.36880	0.599000	0.40250	0.720000	0.28821	0.117000	0.22861	0.981000	0.58702	0.2072:0.7928:0.0:0.0	9.684	0.39250	147	0.94143	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1194.98	35	chr2	219608702	.	C	T	1194.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.382;DP=840;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.28;ReadPosRankSum=-1.905e+00;SOR=0.671	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr2	219609402	219609402	C	T	exonic	STK11IP	.	nonsynonymous SNV	STK11IP:NM_052902:exon17:c.C1966T:p.R656W,	.	.	425	1083	14	0	0	14	0.00642202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.996	D	0.555	P	0.369	N	1.000	N	0.69	N	3.42	T	-0.972	T	0.019	T	0.161	2.843	15.47	0.72	0.280	-0.296	6.992	0.088	0.0103774389607	0.0003	0.00139776	0.0010	0	0.0008	0	0	0.0006	0	0.0042	0.0008667	134	154602	rs138178069	0.0006	0.0006	0.0005	0.0007	0.0078	0.0006	0.0006	0.0060	0.0054	0.0003	0.0010	0.0013	2.519e-05	3.757e-05	0.0078	0.0003	0.0011	0.0036	0.0006	0.0006	0.0005	0.0007	0.0035	0.0005	0.0004	0.0022	0.0018	0.0001	0	0.0012	0.0003	0	0	0.0068	0.0007	0.0005	0.0035	0.01	0.56456	D	0.001	0.83351	D	.	.	.	.	.	.	0.368670	0.04349	N	1.472120	1	0.08975	N	.	.	.	3.42	0.05507	T	-2.35	0.51968	N	0.113	0.10056	-0.9723	0.36712	T	0.019	0.07800	T	10	0.004674673	0.00098	T	0.010377	0.26850	T	0.088	0.25558	.	.	0.168933306366	0.16529	0.3942372021576567	0.39338	.	.	0.252693235874	0.04056	T	.	.	.	-0.592208	0.00162	T	-0.624598	0.10828	T	0.0268030799867487	0.01516	T	0.59464	0.22023	T	0.06531138	0.13945	0.0512048	0.08193	0.06531138	0.13945	0.0512048	0.08192	-7.106	0.54804	T	.	.	0.093	0.14201	B	.	.	2.465700	0.31770	18.84	0.99702856217893709	0.80729	0.02454	0.06901	N	AEFDBI	0.071413	0.14215	N	-0.483937549412463	0.22607	1.208	-0.642197718217624	0.18413	0.9835654	0.953359575416739	0.28069	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.1	0.72	0.17368	-0.187000	0.09652	1.423000	0.26381	0.599000	0.40250	0.000000	0.06391	0.005000	0.19230	0.010000	0.09038	0.3339:0.3531:0.313:0.0	6.992	0.23940	147	0.94143	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1364.98	105	chr2	219609402	.	C	T	1364.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.347;DP=813;ExcessHet=0.0000;FS=2.516;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=1.03;SOR=0.824	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1236	20	0	1	0
chr2	219629236	219629236	C	T	exonic	SLC4A3	.	nonsynonymous SNV	SLC4A3:NM_001326559:exon4:c.C310T:p.R104W	.	.	403	1118	1	0	0	1	0.000447027	.	.	3203252	SLC4A3-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.007	B	0.005	B	0.000	D	0.999	D	0.695	N	1.41	T	-1.089	T	0.045	T	0.332	3.864	19.63	3.19	0.677	2.035	6.387	0.038	0.0229362471112	.	0.00159744	0.0008	0	8.773e-05	0.0029	0	0	0.0023	0.0039	0.0006727	104	154602	rs184135231	0.0004	0.0004	0.0003	0.0005	0.0043	0.0003	0.0003	0.0038	0.0036	2.987e-05	2.237e-05	0	0.0043	0	0.0003	1.709e-05	0.0005	0.0036	0.0002	0.0002	0.0001	0.0003	0.0035	0.0001	0.0001	0.0022	0.0018	0	0	0	0	0.0019	0	0	1.47e-05	0	0.0035	0.003	0.78490	D	0.004	0.74150	D	0.002	0.14184	B	0.001	0.11217	B	0.000407	0.44736	D	0.139009	0.999005	0.45857	D	1.445	0.36358	L	1.41	0.33412	T	-2.89	0.60665	D	0.265	0.32148	-1.0888	0.05735	T	0.045	0.19478	T	10	0.006428659	0.00146	T	0.022936	0.45870	T	0.038	0.09825	.	.	0.424670345773	0.42081	0.4741634323785609	0.47335	.	.	0.601410865784	0.53103	T	0.452589	0.79286	T	-0.434829	0.01387	T	-0.398851	0.33517	T	0.139198071556149	0.16206	T	0.827917	0.52582	T	0.14824572	0.33852	0.13913119	0.33206	0.14824572	0.33851	0.13913119	0.33205	-6.334	0.49416	T	.	.	0.144	0.31608	B	.;.;.;.	.;.;.;.	4.746310	0.76591	26.5	0.99904138594829217	0.97502	0.75339	0.36883	D	AEFDBCI	0.659693	0.63052	D	-0.304947394254415	0.28960	1.601791	-0.146897060780928	0.33528	1.918787	0.999984912399873	0.51787	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.01	3.19	0.35720	1.734000	0.37790	0.595000	0.19862	0.599000	0.40250	1.000000	0.71638	0.548000	0.25452	0.799000	0.37691	0.4025:0.5106:0.0:0.0869	6.387	0.20769	156	0.93906	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	832.98	33	chr2	219629236	.	C	T	832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.89;DP=781;ExcessHet=0.0000;FS=4.206;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.57;ReadPosRankSum=-3.390e-01;SOR=1.017	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1233	20	0	1	0
chr2	219629332	219629340	GAGGAAGAG	-	exonic	SLC4A3	.	nonframeshift deletion	SLC4A3:NM_001326559:exon4:c.406_414del:p.E143_E145del	.	.	404	1116	2	0	0	2	0.000895255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0034	.	0.0007	0.0002	0.0008	0	0.0008	0.0010	0	0.0001	0.0003074	8	26028	rs773479687	0.0010	0.0010	0.0010	0.0010	0.0011	0.0009	0.0009	0.0010	0.0010	0.0003	0.0010	0.0014	5.039e-05	0.0008	0.0009	0.0011	0.0011	0.0001	0.0007	0.0007	0.0008	0.0007	0.0013	0.0006	0.0006	0.0009	0.0007	0.0003	0	0.0013	0.0012	0	0.0004	0	0.0010	0.0014	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1035.94	33	chr2	219629331	.	TGAGGAAGAG	T	1035.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.339e+00;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.58;ReadPosRankSum=-9.490e-01;SOR=0.675	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1233	20	0	1	0
chr2	219640934	219640934	G	A	exonic	SLC4A3	.	nonsynonymous SNV	SLC4A3:NM_001326559:exon22:c.G3674A:p.R1225Q	.	.	415	1086	20	1	0	22	0.0100273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.992	D	0.902	P	0.000	D	1.000	D	3.245	M	-0.0	T	0.172	D	0.501	D	0.548	5.548	35	4.98	2.314	4.932	18.284	0.291	0.0949529258596	0.0005	0.000798722	0.0008	9.726e-05	0.0005	0.0001	0	0.0005	0.0022	0.0031	0.0007115	110	154602	rs150952379	0.0005	0.0005	0.0004	0.0006	0.0042	0.0004	0.0004	0.0029	0.0025	0.0002	0.0004	3.827e-05	0	0	0.0042	0.0003	0.0008	0.0029	0.0005	0.0005	0.0006	0.0005	0.0023	0.0004	0.0004	0.0013	0.0010	0.0001	0	0.0010	0	0.0002	0	0.0068	0.0006	0.0024	0.0023	0.031	0.47745	D	0.031	0.53788	D	0.986	0.64738	D	0.801	0.64047	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.305	0.65957	M	-0.0	0.62608	T	-2.22	0.49846	N	0.635	0.64818	0.172	0.85428	D	0.501	0.81144	D	10	0.049013972	0.04432	T	0.094953	0.76342	D	0.291	0.61040	.	.	0.842441911355	0.84093	0.7639371613375563	0.76341	.	.	0.50764554739	0.39892	T	0.626215	0.88354	D	-0.287716	0.09868	T	-0.189111	0.55673	T	0.0941217733934452	0.11697	T	0.848015	0.52922	T	0.41479942	0.61744	0.288303	0.54846	0.41479942	0.61744	0.288303	0.54845	-6.004	0.46313	T	.	.	0.105	0.21163	B	.;.;.;.	.;.;.;.	5.292224	0.88853	29.8	0.99956445359254309	0.99981	0.99121	0.91534	D	AEFBI	0.732717	0.67938	D	0.761000602636825	0.83620	8.065238	0.698402360406463	0.82256	7.722555	0.999999999998909	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	4.98	4.98	0.65679	5.902000	0.69609	7.571000	0.60712	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.284	0.90047	167	0.93508	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	595.98	42	chr2	219640934	.	G	A	595.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.722;DP=866;ExcessHet=0.0000;FS=0.936;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.64;ReadPosRankSum=-5.080e-01;SOR=0.822	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr2	221482373	221482373	T	C	exonic	EPHA4	.	nonsynonymous SNV	EPHA4:NM_001304537:exon4:c.A1144G:p.T382A	.	.	.	.	.	.	.	.	.	.	.	3242383	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.376	B	0.214	B	0.000	D	1.000	D	2.035	M	0.54	T	-0.739	T	0.201	T	0.591	3.503	17.90	6.06	2.324	6.083	16.609	0.151	0.0234163086512	.	0.000199681	3.44e-05	0	0	0	0	1.528e-05	0	0.0002	3.23e-05	5	154602	rs537001502	3.578e-05	3.557e-05	1.913e-05	5.267e-05	0.0005	2.778e-05	2.516e-05	0.0004	0.0003	0	0	0	0	0	0.0002	5.426e-06	5.002e-05	0.0005	6.565e-06	6.561e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.005	0.63226	D	0.101	0.38742	T	0.376	0.34240	B	0.214	0.37471	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.765	0.80766	M	0.54	0.54911	T	-1.98	0.49187	N	0.504	0.54322	-0.7388	0.58514	T	0.201	0.55780	T	10	0.21718317	0.38323	T	0.023416	0.46379	T	0.151	0.39764	0.343	0.33626	0.548522844963	0.54507	0.4609851996357947	0.46016	0.569308612202	0.53113	0.719573676586	0.69984	T	0.228397	0.59394	T	-0.178889	0.23900	T	-0.198546	0.54783	T	0.212385265049683	0.21077	T	0.880812	0.71764	D	0.5672427	0.70909	0.3403526	0.59789	0.5672427	0.70910	0.3403526	0.59788	-6.234	0.48197	T	0.2649171481180749	0.35723	0.190	0.42229	B	.;.;.;.	.;.;.;.	4.013998	0.59233	24.1	0.99378077903609441	0.61759	0.96402	0.68962	D	AEFBI	0.668411	0.63620	D	0.361005220711805	0.59322	4.110774	0.483519359918913	0.66897	5.012402	0.973268149694302	0.29440	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	6.06	6.06	0.98340	6.062000	0.70788	7.872000	0.72015	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.609	0.84711	907	0.22727	Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1427.98	34	chr2	221482373	.	T	C	1427.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.280;DP=794;ExcessHet=0.0000;FS=1.796;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.42;ReadPosRankSum=2.47;SOR=0.483	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr2	222298570	222298570	G	A	exonic	PAX3	.	nonsynonymous SNV	PAX3:NM_000438:exon1:c.C46T:p.P16S	Craniofacial-deafness-hand syndrome, Autosomal dominant;Rhabdomyosarcoma 2, alveolar, Autosomal recessive;Waardenburg syndrome, type 1, Autosomal dominant;Waardenburg syndrome, type 3, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.721	P	0.373	B	0.000	D	1.000	D	0.975	L	-3.39	D	1.070	D	0.925	D	0.318	3.513	17.95	5.03	2.312	4.628	14.738	0.373	0.463306123651	.	.	1.663e-05	0	0.0002	0	0	0	0	0	6.5e-06	1	154602	rs767173518	2.747e-06	4.104e-06	1.366e-06	4.144e-06	4.525e-05	6.4e-07	4.3e-07	7.5e-06	2.81e-06	0	4.525e-05	0	0	0	0	0	3.332e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.56456	D	0.138	0.44302	T	0.438	0.42361	B	0.197	0.43650	B	0.000145	0.49130	D	0.213073	0.985066	0.81001	D	0.895	0.22405	L	-3.44	0.99368	D	-2.63	0.60507	D	0.293	0.41754	1.070	0.98588	D	0.925	0.97537	D	10	0.29252943	0.46830	T	0.463306	0.94552	D	0.373	0.69188	0.306	0.27646	0.744467814718	0.74217	0.7734839447502793	0.77298	1.58648572353	0.88459	0.698050141335	0.66863	T	0.513353	0.82840	D	0.166592	0.70810	D	0.00152201	0.70435	D	0.822178363800049	0.47934	D	0.966103	0.87544	D	0.38726452	0.59837	0.41712463	0.65776	0.38726452	0.59838	0.41712463	0.65776	-4.914	0.43443	T	.	.	0.079	0.11654	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.616556	0.73258	26.0	0.99793826542188757	0.87928	0.96871	0.71393	D	AEFDBHCI	0.781265	0.71290	D	0.126419540800169	0.47697	2.99186	0.271018835512977	0.53852	3.552442	0.999999999669772	0.74766	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	5.03	5.03	0.67015	3.676000	0.54347	9.942000	0.82663	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1455:0.8545:0.0	14.738	0.69051	795	0.45444	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1315.98	33	chr2	222298570	.	G	A	1315.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=803;ExcessHet=0.0000;FS=0.685;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=1.53;SOR=0.732	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr2	222941532	222941532	C	T	exonic	ACSL3	.	nonsynonymous SNV	ACSL3:NM_001354159:exon15:c.C2041T:p.R681C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.061	B	0.014	B	0.000	D	1.000	D	1.745	L	2.77	T	-1.121	T	0.037	T	0.746	2.909	15.69	5.79	2.739	4.642	20.041	0.186	0.00986042330301	.	.	2.494e-05	0	0.0002	0	0	1.509e-05	0	0	1.94e-05	3	154602	rs776538313	1.79e-05	2.257e-05	2.328e-05	1.246e-05	0.0003	1.245e-05	1.058e-05	6.139e-05	2.922e-05	3.026e-05	0.0001	0	5.091e-05	1.883e-05	0.0003	1.083e-05	5.004e-05	0	2.011e-05	2.649e-05	3.911e-05	0	6.716e-05	5.35e-06	2.48e-06	.	.	0	0	6.716e-05	0	0	0	0	1.478e-05	0.0005	0	0.063	0.36709	T	0.093	0.39799	T	0.061	0.23190	B	0.014	0.16862	B	0.000001	0.62929	D	0.104246	1	0.81001	D	2.075	0.57047	M	2.77	0.11407	T	-4.36	0.76980	D	0.276	0.33578	-1.1213	0.02251	T	0.037	0.15943	T	10	0.22863537	0.39773	T	0.00986	0.25698	T	0.186	0.46104	0.478	0.55663	0.303174742685	0.29934	0.7388673786860687	0.73831	0.553271594919	0.52099	0.715539693832	0.69396	T	0.251285	0.62152	T	-0.183701	0.23187	T	-0.22735	0.52028	T	0.15131776034832	0.17208	T	0.966103	0.87544	D	0.29795775	0.52721	0.3036307	0.56393	0.29795775	0.52720	0.3036307	0.56392	-5.121	0.38128	T	.	.	0.086	0.10979	B	.;.	.;.	3.771070	0.54161	23.5	0.9956979436786757	0.72318	0.96549	0.69696	D	AEFBI	0.850657	0.76749	D	0.153718843873085	0.48989	3.104379	0.329781589007574	0.57298	3.894911	0.999999996921077	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.79	5.79	0.91751	4.712000	0.61578	3.344000	0.37731	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.041	0.97589	913	0.21160	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1016.98	39	chr2	222941532	.	C	T	1016.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.576;DP=871;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=-1.440e-01;SOR=0.646	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1393	20	0	1	0
chr2	224770306	224770306	G	A	exonic	DOCK10	.	nonsynonymous SNV	DOCK10:NM_001290263:exon55:c.C6331T:p.R2111C	.	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.993	D	0.000	D	1.000	D	2.34	M	2.21	T	-0.932	T	0.132	T	0.783	3.997	20.5	5.27	2.472	6.510	18.888	0.342	0.043418909986	.	.	0.0001	0	0	0	0.0011	4.497e-05	0.0016	0	5.17e-05	8	154602	rs776912091	2.405e-05	2.668e-05	1.776e-05	3.042e-05	0.0002	1.746e-05	1.546e-05	4.921e-05	3.174e-05	0	0	0	0.0001	0.0003	0.0002	9.018e-06	3.324e-05	0	7.884e-05	7.88e-05	6.422e-05	9.415e-05	0.0004	4.496e-05	3.512e-05	6.825e-05	2.856e-05	0	0	0	0	0.0004	0.0009	0	0	0	0	0.0	0.91255	D	0.001	0.83351	D	0.9	0.49598	P	0.667	0.53020	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.15	0.88382	M	2.21	0.18414	T	-5.53	0.86073	D	0.681	0.68777	-0.9316	0.43903	T	0.132	0.44425	T	10	0.3677395	0.53235	T	0.043419	0.60972	D	0.342	0.66392	0.522	0.62518	0.439445477881	0.43565	0.43932193023742666	0.43849	0.78146300038	0.65317	0.807518482208	0.83111	D	0.197938	0.55477	T	-0.0904388	0.38002	T	-0.0659641	0.65912	T	0.792674481868744	0.45865	D	0.975436	0.91320	D	0.7098886	0.78601	0.6377279	0.78844	0.7098886	0.78603	0.6377279	0.78845	-8.291	0.63035	D	.	.	0.256	0.49960	B	.;.;.	.;.;.	5.163028	0.86510	28.9	0.99911687026476492	0.98095	0.93537	0.58487	D	AEFBCI	0.838139	0.75569	D	0.7364348091752	0.82018	7.660436	0.70887704601683	0.83053	7.921815	0.999077326370555	0.38370	0.722319	0.85440	0	0.698795	0.70079	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	6.629000	0.74129	9.916000	0.82466	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	18.888	0.92359	765	0.49814	.;Dedicator of cytokinesis, C-terminal|DHR-2 domain;Dedicator of cytokinesis, C-terminal|DHR-2 domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2534.98	33	chr2	224770306	.	G	A	2534.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.46;DP=878;ExcessHet=0.0000;FS=2.526;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.48;ReadPosRankSum=0.327;SOR=0.914	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr2	224886119	224886119	C	T	exonic	DOCK10	.	nonsynonymous SNV	DOCK10:NM_001290263:exon6:c.G538A:p.G180S	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	1.0	D	0.000	D	1.000	D	3.695	H	-0.79	T	0.634	D	0.715	D	0.691	5.968	36	5.62	2.646	7.818	19.647	0.749	0.0972429376915	.	.	1.659e-05	0	8.673e-05	0	0	0	0	6.058e-05	1.29e-05	2	154602	rs776429569	1.916e-05	1.984e-05	2.178e-05	1.65e-05	0.0001	1.328e-05	1.144e-05	7.997e-05	6.236e-05	0	2.237e-05	0	0	0	0	1.349e-05	0	0.0001	2.632e-05	2.627e-05	1.286e-05	4.043e-05	0.0002	8.15e-06	5.15e-06	4.88e-06	1.83e-06	2.417e-05	0	0	0	0.0002	0	0	2.941e-05	0	0	0.019	0.50132	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.57	0.93460	H	-0.79	0.73739	T	-4.38	0.77143	D	0.81	0.81162	0.634	0.92341	D	0.715	0.90210	D	10	0.9655412	0.96030	D	0.097243	0.76739	D	0.749	0.91371	0.923	0.98673	0.877379728821	0.87618	0.6675988601219017	0.66697	0.658221441278	0.58738	0.732056736946	0.71807	T	0.57063	0.85777	D	0.0524778	0.58660	T	0.0742728	0.75195	D	0.887014865875244	0.53748	D	0.979822	0.93110	D	0.53006166	0.68834	0.43106875	0.66736	0.53006166	0.68835	0.43106875	0.66736	-8.635	0.65988	D	.	.	0.812	0.81422	P	.;.;.	.;.;.	4.961046	0.82032	27.7	0.99894225535719594	0.96742	0.94291	0.60700	D	ALL	0.922794	0.89829	D	1.02737079262625	0.96526	14.80305	0.954062523085229	0.97525	16.27756	1.0	0.98316	0.730579	0.87903	0	0.749866	0.99406	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	5.62	5.62	0.85714	7.905000	0.86479	6.013000	0.52675	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.647	0.95779	878	0.29785	.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1394.98	34	chr2	224886119	.	C	T	1394.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=1034;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.73;ReadPosRankSum=-4.200e-02;SOR=0.648	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr2	224896307	224896307	C	T	exonic	DOCK10	.	nonsynonymous SNV	DOCK10:NM_001290263:exon4:c.G386A:p.R129Q	.	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.991	D	0.753	P	0.000	D	0.998	D	2.495	M	0.97	T	-0.620	T	0.236	T	0.692	5.207	33	5.23	2.612	6.774	19.201	0.150	.	.	0.00179712	0.0013	0	0	0	0	0	0.0039	0.0101	0.0010479	162	154602	rs555737439	0.0005	0.0006	0.0003	0.0008	0.0086	0.0005	0.0005	0.0080	0.0078	0	6.829e-05	0	0	0	0.0012	1.817e-05	0.0004	0.0086	0.0003	0.0003	0.0002	0.0004	0.0081	0.0002	0.0002	0.0061	0.0054	4.819e-05	0	0.0002	0	0	0	0	1.47e-05	0	0.0081	0.089	0.32610	T	0.04	0.55759	D	0.882	0.48483	P	0.48	0.47081	P	0.000000	0.84330	D	0.000000	0.998386	0.44847	D	2.395	0.69210	M	0.97	0.42502	T	-2.25	0.50337	N	0.46	0.49692	-0.6199	0.63993	T	0.236	0.60270	T	10	0.006584078	0.00149	T	.	.	.	0.150	0.39571	.	.	0.615590475704	0.61248	0.33974417218772685	0.33887	0.480971576196	0.47103	0.477582097054	0.35723	T	0.159596	0.50310	T	-0.289141	0.09722	T	-0.182134	0.56325	T	0.0812096572146218	0.10142	T	0.999654	0.99877	D	0.3183239	0.54498	0.24900152	0.50462	0.3183239	0.54498	0.24900152	0.50461	-2.483	0.06657	T	.	.	0.093	0.19639	B	.;.;.	.;.;.	4.626981	0.73532	26.0	0.99941825027994591	0.99824	0.98064	0.79293	D	AEFBI	0.749795	0.69112	D	0.679657539851928	0.78300	6.843719	0.686688713095577	0.81367	7.510121	0.999999999997269	0.74766	0.706298	0.61202	0	0.658105	0.61773	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.23	5.23	0.72570	6.851000	0.75222	5.953000	0.51684	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.201	0.93697	867	0.32089	.;Dedicator of cytokinesis C/D, N-terminal;Dedicator of cytokinesis C/D, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	655.98	33	chr2	224896307	.	C	T	655.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.972;DP=734;ExcessHet=0.0000;FS=1.116;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=1.11;SOR=0.941	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,931	20	0	1	0
chr2	225042287	225042287	C	T	exonic	DOCK10	.	nonsynonymous SNV	DOCK10:NM_014689:exon1:c.G88A:p.A30T,	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.998	D	0.957	D	0.050	U	1.000	N	0	N	2.14	T	-1.085	T	0.050	T	0.176	2.952	15.84	2.07	0.542	2.235	8.598	0.068	0.60700838713	.	.	0.0026	0	0	0	.	0	0	0.0035	4.53e-05	7	154602	rs567526383	7.146e-05	0.0001	5.415e-05	8.965e-05	0.0006	5.91e-05	5.445e-05	0.0004	0.0004	0	0.0001	0	0	0	0	4.713e-05	0.0002	0.0006	0.0001	0.0001	9.009e-05	0.0001	0.0008	7.1e-05	5.755e-05	0.0003	0.0002	0	0	0.0004	0	0	0	0	0.0001	0	0.0008	0.006	0.61437	D	0.052	0.47581	T	0.807	0.45251	P	0.071	0.27960	B	0.049674	0.23140	U	0.186095	0.975214	0.25447	N	1.04	0.26193	L	2.14	0.19450	T	-0.29	0.11728	N	0.23	0.25867	-1.0851	0.06389	T	0.050	0.21339	T	10	0.03242448	0.01393	T	0.607008	0.96557	D	0.068	0.19811	0.225	0.14960	0.211220785272	0.20719	.	.	0.647601083312	0.58136	0.88123601675	0.94126	D	0.01471	0.12475	T	-0.207547	0.19726	T	-0.535904	0.18701	T	0.156501810136125	0.17609	T	0.548145	0.18826	T	0.11373567	0.26858	0.19248968	0.42765	0.11373567	0.26857	0.19248968	0.42765	-5.333	0.40268	T	.	.	0.227	0.45895	B	.	.	3.512567	0.49200	22.7	0.99614411198196562	0.74992	0.37522	0.25781	N	ALL	0.076776	0.15453	N	-0.0520123475377632	0.39512	2.331316	-0.0435506932398152	0.37770	2.21604	0.999999999686143	0.74766	0.455138	0.09556	0	0.484254	0.07192	0	0.378051	0.06126	2	0.56751	0.32155	0	.	.	3.0	2.07	0.26004	1.842000	0.38891	6.996000	0.57179	0.579000	0.29447	0.998000	0.41325	1.000000	0.68203	0.974000	0.55675	0.4115:0.5885:0.0:0.0	8.598	0.32887	781	0.47532	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	194.01	15	chr2	225042287	.	C	T	194.01	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.645e+00;DP=304;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.0784;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.40;ReadPosRankSum=-6.740e-01;SOR=0.307	GT:AD:DP:GQ:PL	0/0:18,0:18:54:0,54,577	20	0	1	0
chr2	225582054	225582054	A	G	exonic	NYAP2	.	nonsynonymous SNV	NYAP2:NM_020864:exon4:c.A637G:p.K213E	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.056	B	0.049	B	0.081	N	1.000	N	1.87	L	0.97	T	-1.026	T	0.053	T	0.104	1.196	9.861	3.4	0.436	2.890	12.639	0.044	.	0.0071	0.00858626	0.0023	0.0263	0.0011	0	0	6.009e-05	0.0022	6.058e-05	0.0022057	341	154602	rs61741087	0.0008	0.0008	0.0009	0.0007	0.0279	0.0008	0.0008	0.0264	0.0258	0.0279	0.0014	0	0	0	0.0010	7.285e-05	0.0014	0.0001	0.0077	0.0077	0.0079	0.0075	0.0269	0.0073	0.0072	0.0256	0.0251	0.0269	0	0.0024	0	0	0	0	8.82e-05	0.0052	0	0.261	0.16520	T	0.436	0.13480	T	0.056	0.22806	B	0.049	0.25116	B	0.080957	0.20894	N	0.474501	1	0.08975	N	2.24	0.63355	M	0.97	0.42502	T	-0.96	0.25551	N	0.496	0.52918	-1.0255	0.21919	T	0.053	0.22307	T	10	0.005761951	0.00128	T	.	.	.	0.044	0.11924	.	.	0.043077524339	0.03247	0.09454494071060135	0.09386	0.476995590806	0.46822	0.525978386402	0.42468	T	0.026332	0.19511	T	-0.593015	0.00161	T	-0.602972	0.12563	T	0.0166023280640928	0.00421	T	0.855414	0.54290	D	0.21156769	0.43485	0.1904103	0.42443	0.21156769	0.43485	0.1904103	0.42442	-7.309	0.56260	T	.	.	0.202	0.42592	B	.;.	.;.	2.501544	0.32295	19.00	0.97669953080651306	0.35247	0.74279	0.36335	D	AEFI	0.247992	0.36847	N	-0.383140047421098	0.26069	1.419973	-0.286951762695982	0.28527	1.591323	4.00971151410331E-4	0.06820	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.9	3.4	0.38031	2.895000	0.48347	4.562000	0.43845	0.750000	0.87069	0.991000	0.37257	0.999000	0.35428	0.883000	0.42306	0.7385:0.2615:0.0:0.0	12.639	0.56058	691	0.58815	Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal;Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2602.98	35	chr2	225582054	.	A	G	2602.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.116;DP=963;ExcessHet=0.0000;FS=1.115;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=0.131;SOR=0.774	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1358	20	0	1	0
chr2	226795330	226795330	C	T	exonic	IRS1	.	nonsynonymous SNV	IRS1:NM_005544:exon1:c.G3409A:p.D1137N,	.	.	402	1119	1	0	0	1	0.000446628	.	.	697366	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.72	T	0.082	B	0.017	B	0.005	N	0.985	D	0.345	N	0.41	T	-1.094	T	0.016	T	0.028	2.465	14.20	4.93	2.733	4.139	14.305	0.116	.	7.7e-05	0.0107827	0.0044	0.0003	0.0003	0.0602	0	0	0.0033	0.0002	0.0040038	619	154602	rs3731594	0.0016	0.0016	0.0017	0.0015	0.0541	0.0015	0.0015	0.0522	0.0514	5.974e-05	0.0001	0	0.0541	0	0	1.709e-05	0.0025	0.0002	0.0021	0.0022	0.0022	0.0021	0.0550	0.0019	0.0019	0.0498	0.0477	0.0002	0	0.0014	0	0.0550	0	0	4.41e-05	0.0024	0.0004	0.201	0.20306	T	0.518	0.10536	T	0.082	0.24665	B	0.017	0.18140	B	0.004598	0.33588	N	0.228721	0.984749	0.40187	D	0.985	0.24966	L	0.41	0.57100	T	-1.05	0.27463	N	0.113	0.10056	-1.0936	0.04959	T	0.016	0.06616	T	10	0.0028790236	0.00046	T	.	.	.	0.116	0.32463	.	.	0.690543642882	0.68788	0.1699474549654811	0.16914	0.325336372973	0.34688	0.653457641602	0.60477	T	0.356671	0.72349	T	-0.629458	0.00096	T	-0.627483	0.10605	T	0.00881825119810012	0.00109	T	0.715628	0.32820	T	0.095137045	0.22383	0.08505842	0.19613	0.100639716	0.23764	0.09035161	0.21183	-4.064	0.24757	T	.	.	0.112	0.21913	B	.	.	3.533963	0.49592	22.8	0.99384584485389282	0.62024	0.89879	0.50636	D	AEFDBHCIJ	0.472205	0.51742	N	-0.177975039957093	0.34052	1.939087	0.0511493900144301	0.42128	2.542737	0.999999999914173	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.26897	0.05253	2	0.604944	0.38103	0	.	.	5.81	4.93	0.64394	1.836000	0.38831	5.957000	0.51754	0.599000	0.40250	0.994000	0.38300	1.000000	0.68203	0.940000	0.48062	0.0:0.9292:0.0:0.0708	14.305	0.65935	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	999.98	40	chr2	226795330	.	C	T	999.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.870e-01;DP=1095;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=-1.500e-01;SOR=0.745	GT:AD:DP:GQ:PL	0/0:65,0:65:99:0,120,1800	20	0	1	0
chr2	226795381	226795381	C	G	exonic	IRS1	.	nonsynonymous SNV	IRS1:NM_005544:exon1:c.G3358C:p.G1120R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.745	P	0.331	B	0.001	D	0.997	N	0.69	N	0.38	T	-1.011	T	0.108	T	0.456	0.916	8.727	5.33	2.626	-0.164	14.883	0.156	0.0173765566946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	0.27904	T	0.203	0.27325	T	0.745	0.43117	P	0.331	0.42107	B	0.000594	0.43095	D	0.000000	0.997206	0.22752	N	1.78	0.46185	L	0.38	0.57575	T	-1.03	0.27052	N	0.136	0.13341	-1.0110	0.26604	T	0.108	0.39172	T	10	0.20165521	0.36257	T	0.017377	0.39055	T	0.156	0.40720	0.319	0.29741	0.790373697341	0.78843	0.38451508593414696	0.38366	0.327512791285	0.34889	0.508638381958	0.40032	T	0.358687	0.72521	T	-0.0837879	0.39095	T	-0.358132	0.38268	T	0.408756226301193	0.29271	T	0.589941	0.21689	T	0.11304129	0.26700	0.11721534	0.28297	0.11304129	0.26699	0.11721534	0.28296	-5.081	0.37706	T	.	.	0.232	0.46493	B	.	.	2.375664	0.30488	18.45	0.97754305521540386	0.35763	0.32408	0.24578	N	AEFDBHCI	0.250398	0.37045	N	-0.267987572952429	0.30392	1.694194	-0.250855574341207	0.29742	1.668799	0.999999999060087	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.26897	0.05253	2	0.604944	0.38103	0	.	.	5.33	5.33	0.75683	0.410000	0.20819	3.473000	0.38595	0.599000	0.40250	0.000000	0.06391	0.974000	0.29927	0.189000	0.21571	0.0:1.0:0.0:0.0	14.883	0.70186	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1310.98	40	chr2	226795381	.	C	G	1310.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.973;DP=1121;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.92;ReadPosRankSum=-9.210e-01;SOR=0.737	GT:AD:DP:GQ:PL	0/1:64,56:120:99:1325,0,1528	20	0	1	0
chr2	226906872	226906872	G	A	exonic	RHBDD1	.	nonsynonymous SNV	RHBDD1:NM_001349071:exon4:c.G646A:p.A216T	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.001	B	0.002	B	0.936	N	1.000	N	0.095	N	0.97	T	-0.972	T	0.045	T	0.026	1.330	10.36	-6.57	-1.064	-0.204	10.991	0.009	0.00318932410229	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1247265683	4.104e-06	4.104e-06	2.723e-06	5.5e-06	5.396e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.669	0.11696	T	0.452	0.15890	T	0.001	0.07471	B	0.002	0.06944	B	0.935784	0.08388	N	0.974151	1	0.08975	N	-0.06	0.04898	N	0.97	0.42502	T	-0.54	0.20145	N	0.101	0.10626	-0.9723	0.36712	T	0.045	0.19234	T	10	0.042218447	0.02949	T	0.003189	0.06996	T	0.009	0.00846	0.233	0.16155	0.0954503805726	0.09146	0.5509201901625623	0.55018	0.0471200179943	0.05133	0.239198774099	0.02719	T	0.001251	0.11459	T	-0.36685	0.03756	T	-0.764731	0.02945	T	0.0258160528976588	0.01380	T	0.633137	0.29972	T	0.019086203	0.00434	0.038829945	0.03840	0.019086203	0.00433	0.038829945	0.03840	-3.718	0.19584	T	.	.	0.067	0.06433	B	.;.;.	.;.;.	0.933213	0.13084	9.588	0.78416162182754767	0.12291	0.03908	0.09289	N	AEFGBHCI	0.024595	0.01548	N	-1.3859980934668	0.02768	0.12272	-1.37435492484234	0.03527	0.1647202	0.999999986604476	0.74766	0.733237	0.96898	0	0.600757	0.49542	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.89	-6.57	0.01674	-0.050000	0.11859	0.344000	0.17410	-0.185000	0.09859	0.000000	0.06391	0.000000	0.08366	0.957000	0.51019	0.2928:0.0:0.603:0.1042	10.991	0.46766	923	0.18507	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1058.98	36	chr2	226906872	.	G	A	1058.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.086;DP=828;ExcessHet=0.0000;FS=5.806;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=-9.940e-01;SOR=1.416	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1320	20	0	1	0
chr2	227290795	227290795	G	C	exonic	COL4A3	.	nonsynonymous SNV	COL4A3:NM_000091:exon37:c.G3119C:p.R1040T,	Alport syndrome, autosomal dominant, Autosomal dominant;Alport syndrome, autosomal recessive, Autosomal recessive;Hematuria, benign familial, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.007	B	0.007	B	0.143	N	0.914	N	0.93	L	-3.35	D	-0.452	T	0.569	D	0.297	0.621	7.342	2.8	0.431	-0.019	4.516	0.220	0.0626756258039	.	0.000199681	8.368e-06	0	8.714e-05	0	0	0	0	0	1.29e-05	2	154602	rs187864249	5.474e-06	5.472e-06	4.085e-06	6.877e-06	0.0001	2.36e-06	1.7e-06	4.358e-05	2.767e-05	0	0.0001	0	0	0	0	1.799e-06	1.657e-05	0	1.314e-05	1.313e-05	1.286e-05	1.344e-05	0.0001	2.18e-06	8.2e-07	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	0	0	0	0.613	0.05567	T	0.43	0.13713	T	0.007	0.14184	B	0.007	0.12992	B	0.142887	0.18229	N	0.554792	0.913764	0.27449	N	-0.09	0.04745	N	-3.35	0.94022	D	-0.91	0.24460	N	0.261	0.29544	-0.4516	0.70348	T	0.569	0.84399	D	10	0.062354624	0.07959	T	0.062676	0.68726	D	0.220	0.51569	.	.	0.737894262927	0.73554	0.2737578506257544	0.27288	0.278499169253	0.30333	0.290980368853	0.09064	T	0.391941	0.75174	T	-0.103614	0.35826	T	-0.210764	0.53623	T	0.0512844324111938	0.05724	T	0.653935	0.28269	T	0.1401483	0.32346	0.061159924	0.11765	0.1401483	0.32346	0.061159924	0.11765	-3.479	0.16139	T	0.12110335199337476	0.11458	0.090	0.48978	B	.;.	.;.	1.794073	0.22807	15.77	0.73085365237829358	0.10201	0.55893	0.29979	D	AEFDI	0.135999	0.25651	N	-0.433467824330809	0.24303	1.311349	-0.276661272130024	0.28868	1.612967	0.00169053823228202	0.08780	0.638212	0.43195	0	0.670034	0.63936	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.65	2.8	0.31881	-0.237000	0.09007	3.299000	0.37367	0.676000	0.76740	0.016000	0.19238	1.000000	0.68203	0.995000	0.73285	0.0786:0.2873:0.4859:0.1482	4.516	0.11342	887	0.27948	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1690.98	34	chr2	227290795	.	G	C	1690.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.359e+00;DP=852;ExcessHet=0.0000;FS=2.260;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.01;ReadPosRankSum=0.675;SOR=0.520	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1093	20	0	1	0
chr2	227290872	227290872	C	T	exonic	COL4A3	.	nonsynonymous SNV	COL4A3:NM_000091:exon37:c.C3196T:p.P1066S,	Alport syndrome, autosomal dominant, Autosomal dominant;Alport syndrome, autosomal recessive, Autosomal recessive;Hematuria, benign familial, Autosomal dominant	.	1	1516	4	1	0	6	0.00197498	.	.	288058	Alport_syndrome|not_provided	MONDO:MONDO:0018965,MedGen:C1567741,OMIM:PS301050,Orphanet:63|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.44	T	0.176	B	0.066	B	0.089	N	0.696	N	1.365	L	-5.05	D	0.543	D	0.855	D	0.232	1.650	11.47	3.81	0.892	1.196	4.522	0.266	0.100680383274	0.0002	.	0.0002	0	0	0	0	0.0003	0	0	0.0001294	20	154602	rs377003650	9.86e-05	9.919e-05	0.0001	8.811e-05	3.958e-05	8.519e-05	7.989e-05	3e-05	2.672e-05	0	0	0.0032	0	0	0	3.958e-05	0.0003	0	7.891e-05	7.881e-05	5.142e-05	0.0001	1.47e-05	4.5e-05	3.515e-05	.	.	0	0	0	0.0032	0	0	0	1.47e-05	0	0	0.589	0.05826	T	0.713	0.36765	T	0.028	0.19712	B	0.031	0.21939	B	0.089220	0.20439	N	0.460721	0.695861	0.30148	N	1.475	0.37068	L	-5.05	0.98611	D	-0.51	0.19509	N	0.274	0.31027	0.543	0.91139	D	0.855	0.95162	D	10	0.026106924	0.00786	T	0.10068	0.77311	D	0.266	0.57999	.	.	0.840862361774	0.83934	0.30361999458357675	0.30274	0.19039271064	0.21358	0.289572954178	0.08860	T	0.326946	0.69750	T	-0.0413054	0.45756	T	-0.140743	0.60053	T	0.0438442861480149	0.04392	T	0.70483	0.52677	T	0.0459505	0.07608	0.039696567	0.04121	0.0459505	0.07607	0.039696567	0.04121	-6.294	0.48674	T	0.2295226341873325	0.31048	0.080	0.27523	B	.;.	.;.	2.237211	0.28564	17.84	0.94940569818923792	0.25834	0.61775	0.31583	D	AEFDI	0.144575	0.26757	N	-0.262669229027256	0.30601	1.707796	-0.113735026000875	0.34835	2.008361	0.00469315482775008	0.10676	0.638212	0.43195	0	0.670034	0.63936	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.65	3.81	0.43020	0.708000	0.25393	0.798000	0.21632	0.599000	0.40250	0.814000	0.29906	0.987000	0.30940	0.957000	0.51019	0.1585:0.6072:0.1531:0.0812	4.522	0.11370	887	0.27948	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1701.98	34	chr2	227290872	.	C	T	1701.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=871;ExcessHet=0.0000;FS=2.093;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.66;ReadPosRankSum=-9.750e-01;SOR=0.925	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1093	20	0	1	0
chr2	227332589	227332589	G	A	splicing	MFF	NM_001277062:exon4:c.351+1G>A;NM_001277061:exon5:c.429+1G>A;NM_001277063:exon4:c.351+1G>A;NM_001277066:exon3:c.351+1G>A;NM_001277065:exon4:c.351+1G>A;NM_001277064:exon4:c.351+1G>A;NM_020194:exon5:c.429+1G>A;NM_001277068:exon3:c.351+1G>A;NM_001277067:exon4:c.201+1G>A	.	.	Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Autosomal recessive	.	423	1090	7	0	2	9	0.00320073	1.0000	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.020	20.6	4.78	2.362	8.764	18.164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866884233	0.0007	0.0016	0.0006	0.0008	0.0039	0.0007	0.0006	0.0033	0.0031	0.0039	0.0007	0.0022	0.0004	0.0008	0.0017	0.0005	0.0011	0.0017	0.0001	0.0022	0.0001	0.0001	0.0003	6.563e-05	5.32e-05	0.0002	0.0001	0.0003	0	0.0001	0	0	0	0	3.069e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	6.971035	0.95980	35	0.99542279205671724	0.70586	0.99758	0.99249	D	AEFBI	.	.	.	1.15380122733624	0.99012	20.26834	0.989360123344271	0.98410	18.20422	0.999999999885004	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.137589	0.03823	0	0.109871	0.03346	0	0.982612	0.88967	4.78	4.78	0.60666	7.139000	0.76905	9.911000	0.82427	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.164	0.89650	926	0.17793	.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	105.72	34	chr2	227332589	.	G	A	105.72	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.59;DP=933;ExcessHet=0.0000;FS=5.789;InbreedingCoeff=-0.0500;MLEAC=1;MLEAF=0.026;MQ=59.00;MQRankSum=-6.094e+00;QD=1.32;ReadPosRankSum=-2.527e+00;SOR=1.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485	18	0	1	2
chr2	227332590	227332590	-	CCG	splicing	MFF	NM_001277062:exon4:c.351+2->CCG;NM_001277061:exon5:c.429+2->CCG;NM_001277063:exon4:c.351+2->CCG;NM_001277066:exon3:c.351+2->CCG;NM_001277065:exon4:c.351+2->CCG;NM_001277064:exon4:c.351+2->CCG;NM_020194:exon5:c.429+2->CCG;NM_001277068:exon3:c.351+2->CCG;NM_001277067:exon4:c.201+2->CCG	.	.	Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Autosomal recessive	.	421	1091	6	0	4	10	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0016	0.0006	0.0007	0.0033	0.0006	0.0006	0.0028	0.0026	0.0033	0.0007	0.0020	0.0004	0.0007	0.0016	0.0004	0.0009	0.0015	7.93e-05	0.0020	7.757e-05	8.11e-05	0.0002	4.52e-05	3.531e-05	0.0001	8.539e-05	0.0002	0	6.559e-05	0	0	0	0	1.474e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	104.94	34	chr2	227332590	.	T	TCCG	104.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.99;DP=930;ExcessHet=0.0000;FS=5.789;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.99;MQRankSum=-6.094e+00;QD=1.31;ReadPosRankSum=-2.674e+00;SOR=1.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485	20	0	1	0
chr2	227340380	227340380	-	ACCTGTGTTGCGTGGTGGGTCTGCTGCCGCCACTTCTAATCCTCATCATGACAACGTCAGGTATG	exonic	MFF	.	frameshift insertion	MFF:NM_001277066:exon4:c.440_441insACCTGTGTTGCGTGGTGGGTCTGCTGCCGCCACTTCTAATCCTCATCATGACAACGTCAGGTATG:p.Y148Pfs*28	Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0010	0.0001	0.0001	0.0003	9.022e-05	8.504e-05	0.0002	0.0002	0.0003	0.0001	0.0005	0	0.0001	0.0002	7.315e-05	0.0001	0.0003	3.292e-05	0.0010	3.865e-05	2.692e-05	7.268e-05	1.263e-05	7.99e-06	1.927e-05	1.034e-05	7.268e-05	0	6.539e-05	0	0	9.423e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	58.28	36	chr2	227340380	.	T	TACCTGTGTTGCGTGGTGGGTCTGCTGCCGCCACTTCTAATCCTCATCATGACAACGTCAGGTATG	58.28	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.35;DP=885;ExcessHet=0.0000;FS=1.408;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.98;MQRankSum=-6.102e+00;QD=1.14;ReadPosRankSum=2.14;SOR=0.446	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1117	20	0	1	0
chr2	227379186	227379186	A	G	exonic	TM4SF20	.	nonsynonymous SNV	TM4SF20:NM_024795:exon1:c.T83C:p.I28T,	.	.	420	1096	5	1	0	7	0.00318327	.	.	1643702	not_provided|TM4SF20-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.15	T	0.015	B	0.048	B	0.294	N	1.000	N	1.85	L	1.35	T	-1.002	T	0.090	T	0.172	1.471	10.86	4.62	1.014	2.861	7.196	0.090	0.00840708997818	0.0018	0.00159744	0.0014	0	0.0014	0	0.0017	0.0021	0	6.056e-05	0.0014165	219	154602	rs138536526	0.0017	0.0017	0.0018	0.0017	0.0020	0.0017	0.0017	0.0019	0.0019	0.0003	0.0018	0.0008	0	0.0012	0.0019	0.0020	0.0019	0.0002	0.0017	0.0017	0.0018	0.0016	0.0025	0.0015	0.0015	0.0022	0.0021	0.0003	0	0.0025	0.0014	0	0.0019	0.0068	0.0025	0.0028	0.0004	0.286	0.15201	T	0.008	0.67890	D	0.015	0.17086	B	0.048	0.24975	B	0.294432	0.14709	N	0.653406	1	0.08975	N	2.045	0.56016	M	1.35	0.34648	T	-2.32	0.51478	N	0.276	0.31253	-1.0015	0.29488	T	0.090	0.34518	T	10	0.016111732	0.00339	T	0.008407	0.22257	T	0.090	0.26093	.	.	0.238096912614	0.23440	0.4702324768199751	0.46942	0.0117463660798	0.01108	0.544604420662	0.45096	T	0.013163	0.11438	T	-0.535146	0.00358	T	-0.546403	0.17672	T	0.0388704127529429	0.03488	T	0.609739	0.23084	T	0.087726615	0.20439	0.09108261	0.21396	0.087726615	0.20439	0.09108261	0.21396	-5.286	0.39804	T	.	.	0.306	0.53425	B	.	.	1.356227	0.17643	13.29	0.80408421072147973	0.13189	0.10069	0.15675	N	AEFDGBHCI	0.153685	0.27859	N	-0.577957018991248	0.19615	1.027989	-0.585679621263008	0.19866	1.067808	0.999999438124585	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.77	4.62	0.56946	2.865000	0.48111	6.100000	0.53542	0.691000	0.84096	0.042000	0.21073	0.728000	0.26397	0.090000	0.17789	0.829:0.0:0.171:0.0	7.196	0.25032	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2254.98	35	chr2	227379186	.	A	G	2254.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.770e-01;DP=868;ExcessHet=0.0000;FS=0.560;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.96;ReadPosRankSum=-7.300e-02;SOR=0.626	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1175	20	0	1	0
chr2	227532192	227532192	C	T	exonic	AGFG1	.	nonsynonymous SNV	AGFG1:NM_001135187:exon7:c.C869T:p.P290L,	.	.	440	1081	1	0	0	1	0.000462321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.965	D	0.656	P	.	.	1.000	D	0.345	N	1.84	T	-1.102	T	0.064	T	0.405	2.493	14.30	5.15	2.554	6.902	19.001	0.189	0.0313119143292	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	0.999944	0.81001	D	.	.	.	1.84	0.24656	T	-2.37	0.52289	N	0.44	0.47857	-1.1017	0.03892	T	0.064	0.26597	T	9	0.26467407	0.43957	T	0.031312	0.53422	D	0.189	0.46613	0.425	0.47021	0.311241185304	0.30733	0.33218485201081754	0.33131	0.588024340677	0.54360	0.654130220413	0.60573	T	.	.	.	-0.0763326	0.40310	T	-0.347423	0.39500	T	0.806533780560842	0.46804	D	0.837416	0.50983	T	.	.	.	.	.	.	.	.	-5.238	0.39326	T	.	.	0.198	0.42111	B	.	.	3.140345	0.42469	21.5	0.94744896475286089	0.25439	0.98073	0.79369	D	AEFBI	0.725194	0.67426	D	0.439787032999993	0.63627	4.600018	0.521061704735285	0.69411	5.356284	0.999999999878836	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.727631	0.95156	0	.	.	5.15	5.15	0.70287	6.980000	0.75938	3.343000	0.37723	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.001	0.92812	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	772.98	36	chr2	227532192	.	C	T	772.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=756;ExcessHet=0.0000;FS=0.899;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.37;ReadPosRankSum=-5.840e-01;SOR=0.818	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1291	20	0	1	0
chr2	227611566	227611566	G	A	exonic	C2orf83	.	nonsynonymous SNV	C2orf83:NM_020161:exon3:c.C281T:p.A94V,	.	.	430	1087	5	0	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.208	B	0.017	B	.	.	1.000	N	0.345	N	0.16	T	-1.061	T	0.075	T	0.028	0.984	9.016	-1.05	-0.296	0.079	2.172	0.024	0.00328156914584	.	.	2.472e-05	0	0	0	0	2.998e-05	0.0011	0	1.94e-05	3	154602	rs774145671	1.026e-05	1.163e-05	1.089e-05	9.626e-06	0.0002	6.16e-06	4.89e-06	4.55e-06	3.32e-06	0	2.236e-05	0	2.519e-05	0	0.0002	8.993e-06	1.656e-05	1.159e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	0.208	0.29916	B	0.017	0.18140	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	.	.	.	.	.	-1.0614	0.11410	T	0.075	0.30086	T	9	0.056364894	0.06307	T	0.003282	0.07268	T	.	.	0.361	0.36548	.	.	0.035604307282125776	0.03507	.	.	0.260540276766	0.04955	T	0.001287	0.00766	T	-0.333093	0.05880	T	-0.633376	0.10161	T	0.0318742976935413	0.02285	T	0.278972	0.04839	T	0.022485292	0.00914	0.04299178	0.05248	0.022485292	0.00914	0.04299178	0.05247	-4.094	0.25201	T	.	.	0.150	0.33179	B	.	.	0.348841	0.07221	3.815	0.85543577710510643	0.15958	0.01678	0.05360	N	AEFDBI	0.025511	0.01759	N	-1.4640517336781	0.02109	0.0927697	-1.54528821025264	0.02009	0.09177215	1.00105101558336E-4	0.04910	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	2.05	-1.05	0.09523	0.084000	0.14738	-2.513000	0.03663	-3.137000	0.00119	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3226:0.0:0.4292:0.2482	2.172	0.03617	702	0.57624	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1987.98	36	chr2	227611566	.	G	A	1987.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.600e-01;DP=981;ExcessHet=0.0000;FS=0.569;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=-8.400e-02;SOR=0.618	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr2	227993592	227993592	G	T	exonic	SPHKAP	.	nonsynonymous SNV	SPHKAP:NM_001142644:exon9:c.C4663A:p.L1555I,	.	.	423	1095	4	0	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.246	B	0.088	B	0.668	U	1.000	D	2.42	M	1.92	T	-1.098	T	0.085	T	0.139	4.003	20.5	4.22	0.839	3.666	11.152	0.089	0.00598760887519	0.0041	0.000599042	0.0049	0.0019	0.0056	0	0.0015	0.0077	0.0066	0.0007	0.0027878	431	154602	rs192502309	0.0052	0.0052	0.0053	0.0051	0.0064	0.0051	0.0051	0.0063	0.0062	0.0007	0.0017	3.869e-05	0	0.0012	0.0005	0.0064	0.0044	0.0007	0.0031	0.0031	0.0032	0.0030	0.0056	0.0029	0.0028	0.0051	0.0050	0.0013	0	0.0013	0	0	0.0011	0	0.0056	0.0009	0.0004	0.034	0.44029	D	0.562	0.09052	T	0.246	0.31102	B	0.088	0.29688	B	0.668020	0.10367	U	0.733784	0.629214	0.81001	D	0.805	0.20218	L	1.92	0.23082	T	-1.3	0.32590	N	0.306	0.34552	-1.0983	0.04303	T	0.085	0.33128	T	10	0.00931713	0.00210	T	0.005988	0.15638	T	0.089	0.25827	.	.	0.104622674875	0.10061	0.21685634935439876	0.21601	0.107502488482	0.12131	0.540587246418	0.44528	T	0.138646	0.47224	T	-0.552249	0.00283	T	-0.563432	0.16056	T	0.0232859713187051	0.01057	T	0.768323	0.39714	T	0.134145	0.31177	0.14756745	0.34917	0.134145	0.31176	0.14756745	0.34916	-4.52	0.31149	T	.	.	0.154	0.34004	B	.	.	3.840403	0.55567	23.6	0.99456652209536833	0.65581	0.82523	0.41738	D	AEFHCI	0.456047	0.50808	N	0.10547907832834	0.46719	2.907944	0.204092439623866	0.50073	3.20331	6.42285704538237E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.06	4.22	0.49153	4.416000	0.59567	5.795000	0.49897	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1384:0.7173:0.1442	11.152	0.47687	847	0.35998	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1858.98	34	chr2	227993592	.	G	T	1858.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.668e+00;DP=868;ExcessHet=0.0000;FS=1.265;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=-7.000e-03;SOR=0.553	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr2	228018630	228018630	T	C	exonic	SPHKAP	.	nonsynonymous SNV	SPHKAP:NM_001142644:exon7:c.A2224G:p.I742V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.114	B	0.053	B	0.387	N	1.000	N	1.7	L	2.8	T	-0.984	T	0.021	T	0.033	-1.976	0.007	-1.89	-0.491	-0.615	3.202	0.020	0.00358922147205	.	.	3.298e-05	0	0	0	0	5.999e-05	0	0	2.59e-05	4	154602	rs61755299	3.352e-05	3.352e-05	2.995e-05	3.713e-05	5.974e-05	2.566e-05	2.312e-05	3.171e-05	2.836e-05	5.974e-05	0	0	0	0	0	4.137e-05	1.656e-05	0	4.6e-05	4.597e-05	3.855e-05	5.381e-05	9.652e-05	2.11e-05	1.527e-05	3.249e-05	1.915e-05	9.652e-05	0	0	0	0	0	0	4.41e-05	0	0	0.557	0.06441	T	0.59	0.08419	T	0.001	0.26387	B	0.001	0.25678	B	0.387099	0.04455	N	1.331870	1	0.08975	N	1.78	0.46185	L	2.8	0.11082	T	-0.13	0.08971	N	0.046	0.02272	-0.9840	0.34069	T	0.021	0.09009	T	10	0.04324457	0.03153	T	0.003589	0.08216	T	0.020	0.03691	0.161	0.06507	0.0401082797425	0.02173	0.10811125497557804	0.10740	0.0427295893604	0.04608	0.24737983942	0.03496	T	0.012994	0.11321	T	-0.536142	0.00353	T	-0.827611	0.01305	T	0.0573600791394711	0.06747	T	0.537046	0.18049	T	0.04571234	0.07528	0.04204539	0.04918	0.04571234	0.07528	0.04204539	0.04918	-2.554	0.06161	T	.	.	0.072	0.12181	B	.;.	.;.	-0.391258	0.02246	0.229	0.14305208172542797	0.00311	0.08427	0.14357	N	AEFBHCIJ	0.089038	0.18049	N	-1.10863777848628	0.06488	0.2988339	-1.14922008782576	0.06782	0.3276228	5.08426944044918E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.27	-1.89	0.07271	-0.786000	0.04729	-2.615000	0.03546	0.502000	0.22824	0.000000	0.06391	0.000000	0.08366	0.702000	0.34203	0.2731:0.2326:0.0:0.4943	3.202	0.06257	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2281.98	33	chr2	228018630	.	T	C	2281.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.260e+00;DP=2309;ExcessHet=0.0000;FS=3.334;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.01;ReadPosRankSum=1.76;SOR=0.486	GT:AD:DP:GQ:PL	0/0:140,0:140:99:0,120,1800	20	0	1	0
chr2	228018867	228018867	C	T	exonic	SPHKAP	.	nonsynonymous SNV	SPHKAP:NM_001142644:exon7:c.G1987A:p.V663I	.	.	429	1080	10	2	1	15	0.00643974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.002	B	0.001	B	0.455	N	1.000	N	-0.55	N	0.99	T	-1.038	T	0.040	T	0.047	2.185	13.26	1.7	0.112	0.973	0.462	0.042	0.00295187338938	0.0016	0.000599042	0.0017	0.0004	0.0006	0	0	0.0027	0.0011	0.0007	0.0015718	243	154602	rs115375305	0.0016	0.0016	0.0016	0.0017	0.0085	0.0016	0.0016	0.0066	0.0059	0.0003	0.0006	0.0181	0.0002	7.488e-05	0.0085	0.0014	0.0025	0.0012	0.0017	0.0018	0.0020	0.0015	0.0023	0.0016	0.0015	0.0015	0.0014	0.0002	0.0440	0.0009	0.0185	0	9.423e-05	0.0102	0.0018	0.0028	0.0023	0.477	0.08787	T	0.463	0.12668	T	0.0	0.09854	B	0.0	0.04355	B	0.455005	0.04836	N	1.286100	1	0.08975	N	-0.69	0.01958	N	0.99	0.41750	T	-0.01	0.07155	N	0.033	0.01740	-1.0381	0.17893	T	0.040	0.17020	T	10	0.0031555295	0.00053	T	0.002952	0.06280	T	0.042	0.11227	.	.	0.0482279557977	0.04254	0.07047903892941995	0.06984	0.0414775288599	0.04451	0.273816943169	0.06645	T	0.00858	0.07868	T	-0.6872	0.00043	T	-0.767156	0.02863	T	0.00361392054005881	0.00038	T	0.112789	0.00855	T	0.019902766	0.00531	0.02561494	0.00613	0.019902766	0.00531	0.02561494	0.00613	-3.225	0.12926	T	.	.	0.081	0.08609	B	.;.	.;.	1.256237	0.16537	12.60	0.90968524197328204	0.20218	0.05613	0.11520	N	AEFBI	0.048405	0.08256	N	-1.09134845170511	0.06801	0.3141479	-0.982530000252836	0.10178	0.5109501	2.29836144102018E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.54	1.7	0.23359	1.254000	0.32500	2.991000	0.35881	-0.107000	0.15377	0.001000	0.13787	0.264000	0.24003	0.994000	0.71098	0.2196:0.2342:0.2807:0.2655	0.462	0.00483	864	0.32732	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2413.98	33	chr2	228018867	.	C	T	2413.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.07;DP=2176;ExcessHet=0.0000;FS=4.884;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.61;ReadPosRankSum=-2.430e-01;SOR=0.445	GT:AD:DP:GQ:PL	0/1:114,94:208:99:2428,0,2909	20	0	1	0
chr2	228108932	228108932	C	T	exonic	SPHKAP	.	nonsynonymous SNV	SPHKAP:NM_001142644:exon3:c.G146A:p.R49H	.	.	429	1089	4	0	0	4	0.00183318	.	.	3323153	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	0.997	D	0.804	P	0.002	N	0.642	D	0.345	N	1.18	T	-0.925	T	0.098	T	0.273	3.772	19.15	5.55	2.894	4.834	14.877	0.133	0.0080274037085	0.0003	0.000599042	0.0008	0.0002	8.711e-05	0	0.0017	0.0007	0.0022	0.0018	0.0006792	105	154602	rs145848831	0.0008	0.0008	0.0007	0.0009	0.0024	0.0008	0.0007	0.0021	0.0020	3.105e-05	0.0002	0	0	0.0013	0.0009	0.0007	0.0010	0.0024	0.0007	0.0007	0.0008	0.0006	0.0021	0.0006	0.0006	0.0011	0.0009	2.409e-05	0	0.0005	0	0	0.0009	0	0.0012	0.0005	0.0021	0.216	0.19225	T	0.19	0.28575	T	0.997	0.70673	D	0.685	0.58350	P	0.001764	0.38052	N	0.259855	0.642273	0.32887	D	1.525	0.38595	L	1.18	0.37746	T	-0.76	0.21215	N	0.397	0.43803	-0.9254	0.44801	T	0.098	0.36600	T	10	0.024356186	0.00667	T	0.008027	0.21290	T	0.133	0.36157	.	.	0.430694319191	0.42687	0.23036729028979847	0.22951	0.319516133586	0.34152	0.289454489946	0.08843	T	0.025851	0.19251	T	-0.472875	0.00816	T	-0.458813	0.26729	T	0.0851309791687501	0.10630	T	0.944706	0.79020	D	0.09464393	0.22257	0.066513225	0.13637	0.09464393	0.22257	0.066513225	0.13636	-3.451	0.15752	T	.	.	0.111	0.30945	B	.;.	.;.	4.528726	0.71068	25.6	0.99924732898366186	0.98980	0.88840	0.48965	D	AEFI	0.735802	0.68151	D	0.466277573670467	0.65134	4.784238	0.533118973247603	0.70231	5.474978	0.0564926967038695	0.15057	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.55	5.55	0.83298	5.219000	0.65094	5.781000	0.49805	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.0:1.0:0.0:0.0	14.877	0.70139	815	0.41851	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	731.98	33	chr2	228108932	.	C	T	731.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.182e+00;DP=736;ExcessHet=0.0000;FS=2.549;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.31;ReadPosRankSum=0.702;SOR=0.369	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1212	20	0	1	0
chr2	229860502	229860502	C	T	exonic	TRIP12	.	nonsynonymous SNV	TRIP12:NM_001284214:exon3:c.G128A:p.G43E	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.007	B	0.423	U	1.000	N	.	.	0.99	T	-1.088	T	0.054	T	0.213	1.989	12.61	4.04	1.485	5.644	14.793	0.100	0.0197008256156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-06	1.368e-06	2.729e-06	0	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.66e-05	0	6.576e-06	6.568e-06	0	1.346e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.757	0.29823	T	0.663	0.35082	T	.	.	.	.	.	.	0.422779	0.12848	U	0.595364	1	0.81001	D	.	.	.	0.99	0.41750	T	0.05	0.11913	N	0.415	0.45520	-1.0884	0.05804	T	0.054	0.22693	T	9	0.105422735	0.19485	T	0.019701	0.42129	T	0.100	0.28662	0.208	0.12497	0.123314135267	0.11883	0.1507100083719627	0.14992	.	.	.	.	.	0.013644	0.11764	T	-0.177382	0.24125	T	-0.492574	0.23121	T	0.801223576068878	0.46437	D	0.942406	0.78384	D	.	.	.	.	.	.	.	.	-3.247	0.13063	T	.	.	0.199	0.42156	B	.;.;.	.;.;.	4.051384	0.60059	24.2	0.91876856545820851	0.21193	0.85352	0.44476	D	AEFBHCI	0.511462	0.54008	D	-0.365632862297649	0.26702	1.459309	-0.161704188585788	0.32959	1.880461	0.998489645413268	0.37052	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.89	4.04	0.46262	5.748000	0.68333	5.075000	0.47214	-0.218000	0.08083	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.4391:0.5609:0.0	14.793	0.69482	876	0.30350	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1006.98	37	chr2	229860502	.	C	T	1006.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.40;DP=766;ExcessHet=0.0000;FS=1.766;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.19;ReadPosRankSum=0.259;SOR=0.958	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1225	20	0	1	0
chr2	229976295	229976295	C	T	exonic	FBXO36	.	nonsynonymous SNV	FBXO36:NM_174899:exon2:c.C151T:p.P51S,	.	.	454	1042	25	1	0	27	0.0127901	.	.	2819022	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.996	D	0.000	D	0.999	D	2.74	M	0.49	T	0.403	D	0.633	D	0.75	4.435	23.6	5.74	2.740	4.534	16.893	0.507	0.0700355220613	0.0057	0.00299521	0.0048	0.0012	0.0049	0	0.0008	0.0069	0.0055	0.0025	0.0047218	730	154602	rs61753284	0.0060	0.0060	0.0060	0.0060	0.0255	0.0059	0.0058	0.0221	0.0209	0.0017	0.0045	0.0092	2.524e-05	0.0012	0.0255	0.0067	0.0056	0.0028	0.0048	0.0048	0.0051	0.0044	0.0073	0.0045	0.0044	0.0067	0.0065	0.0012	0.0384	0.0041	0.0121	0	0.0011	0.0170	0.0073	0.0090	0.0010	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999049	0.45943	D	2.76	0.80626	M	-1.45	0.80899	T	-6.89	0.93366	D	0.69	0.77789	0.403	0.89145	D	0.633	0.87159	D	10	0.0110967755	0.00244	T	0.070036	0.70893	D	0.507	0.78786	.	.	0.940739262602	0.94012	0.7733006247395037	0.77280	0.330663428788	0.35144	0.411693423986	0.26690	T	0.351554	0.71911	T	-0.0931571	0.37555	T	0.0971355	0.76718	D	0.0250041670815485	0.01273	T	0.822518	0.51368	T	0.84192264	0.86746	0.7851982	0.87348	0.84192264	0.86747	0.7851982	0.87349	-2.929	0.12751	T	.	.	0.875	0.83490	P	.;.;.	.;.;.	4.395852	0.67881	25.2	0.99910399207564027	0.98022	0.88759	0.48842	D	AEFBI	0.498609	0.53264	N	0.819968735157683	0.87339	9.183527	0.782799039667506	0.88574	9.633005	0.98857738015449	0.31561	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.645948	0.59608	0	.	.	5.74	5.74	0.90070	4.814000	0.62318	6.935000	0.56972	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	16.893	0.85961	963	0.08280	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	615.98	34	chr2	229976295	.	C	T	615.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.200e-01;DP=759;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.62;ReadPosRankSum=1.35;SOR=0.618	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1044	20	0	1	0
chr2	229976317	229976317	A	G	exonic	FBXO36	.	nonsynonymous SNV	FBXO36:NM_174899:exon2:c.A173G:p.H58R,	.	.	441	1066	15	0	0	15	0.00698649	.	.	2344268	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.997	D	0.879	P	0.000	D	0.884	N	2.595	M	0.7	T	-0.443	T	0.329	T	0.527	3.792	19.25	5.74	2.211	5.401	13.605	0.249	0.0150657575556	0.0005	0.000199681	0.0010	0	0.0005	0	0	0.0012	0	0.0022	0.0009508	147	154602	rs139081403	0.0007	0.0007	0.0006	0.0007	0.0113	0.0006	0.0006	0.0091	0.0083	8.965e-05	0.0010	0.0047	0	0	0.0113	0.0004	0.0013	0.0024	0.0007	0.0007	0.0006	0.0008	0.0023	0.0006	0.0006	0.0017	0.0015	4.809e-05	0	0.0023	0.0049	0	9.414e-05	0.0034	0.0006	0.0014	0.0010	0.05	0.41096	D	0.026	0.55759	D	0.952	0.70673	P	0.601	0.62418	P	0.000000	0.84330	D	0.000000	0.884071	0.27999	N	2.695	0.78878	M	0.7	0.55266	T	-5.08	0.83092	D	0.564	0.63120	-0.4428	0.70637	T	0.329	0.69682	T	10	0.020536453	0.00475	T	0.015066	0.35586	T	0.249	0.55752	.	.	0.829300019503	0.82767	0.7481369098619418	0.74759	0.180973065125	0.20352	0.464250594378	0.33892	T	0.164	0.50943	T	-0.331705	0.05984	T	-0.255105	0.49311	T	0.123124136544954	0.14732	T	0.786621	0.43725	T	0.5184272	0.68169	0.503896	0.71323	0.5184272	0.68170	0.503896	0.71324	-3.344	0.14311	T	.	.	0.234	0.59948	B	.;.;.	.;.;.	3.820712	0.55171	23.6	0.99693346224742629	0.80112	0.85925	0.45116	D	AEFBI	0.460414	0.51060	N	0.515172305933091	0.67985	5.155493	0.461323216665259	0.65446	4.825021	0.83906728037772	0.24832	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.421255	0.06892	1	.	.	5.74	5.74	0.90070	5.674000	0.67788	10.192000	0.83237	0.748000	0.86766	0.989000	0.36753	1.000000	0.68203	0.971000	0.54645	1.0:0.0:0.0:0.0	13.605	0.61507	963	0.08280	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	484.98	34	chr2	229976317	.	A	G	484.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.621e+00;DP=757;ExcessHet=0.0000;FS=5.048;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.70;ReadPosRankSum=0.977;SOR=0.746	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1044	20	0	1	0
chr2	230046653	230046653	G	A	exonic	SLC16A14	.	nonsynonymous SNV	SLC16A14:NM_152527:exon4:c.C473T:p.A158V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.764	P	0.445	B	0.000	D	1.000	D	1.82	L	-1.57	D	0.121	D	0.539	D	0.716	3.791	19.25	4.94	2.557	5.272	18.358	0.634	0.0751462307587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.875e-07	1.368e-06	1.369e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.111	0.37173	T	0.234	0.43716	B	0.152	0.45921	B	0.000269	0.46590	D	0.094162	0.99996	0.52935	D	2.595	0.75868	M	-1.57	0.81900	D	-3.36	0.66549	D	0.777	0.77413	0.121	0.84556	D	0.539	0.82999	D	10	0.73142123	0.74324	D	0.075146	0.72216	D	0.634	0.85975	0.745	0.87654	0.713815690768	0.71130	0.6616692867895871	0.66103	1.16483280756	0.79586	0.729648530483	0.71455	T	0.495862	0.81840	T	0.192465	0.73190	D	0.0386856	0.72841	D	0.986987113952637	0.77573	D	0.908309	0.67561	D	0.42611185	0.62496	0.3059564	0.56621	0.42611185	0.62497	0.3059564	0.56620	-8.464	0.64191	D	.	.	0.766	0.75731	P	.;.;.	.;.;.	4.482429	0.69953	25.4	0.99906889127012632	0.97726	0.97110	0.72748	D	AEFDBI	0.582800	0.58227	D	0.350791161655516	0.58781	4.052594	0.432512986036819	0.63602	4.597223	0.960434248405783	0.28488	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.94	4.94	0.64645	4.073000	0.57290	11.340000	0.92555	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	18.358	0.90305	952	0.10565	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1248.98	35	chr2	230046653	.	G	A	1248.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.430e-01;DP=794;ExcessHet=0.0000;FS=2.850;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=0.386;SOR=1.044	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1059	20	0	1	0
chr2	230865087	230865087	C	T	exonic	ITM2C	.	nonsynonymous SNV	ITM2C:NM_001012514:exon1:c.C62T:p.A21V	.	.	431	1073	18	0	0	18	0.00831793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.958	D	0.204	B	0.137	U	1.000	D	0	N	1.92	T	-1.118	T	0.047	T	0.232	1.502	10.97	2.18	1.778	1.703	6.884	0.038	.	0.0051	0.00319489	0.0127	0.0028	0.0245	0	0.0307	0.0205	0.0054	0.0021	0.0043272	669	154602	rs149334809	0.0074	0.0074	0.0074	0.0074	0.0295	0.0073	0.0072	0.0258	0.0244	0.0017	0.0057	0.0121	0	0.0073	0.0295	0.0081	0.0071	0.0009	0.0060	0.0060	0.0061	0.0059	0.0097	0.0057	0.0056	0.0091	0.0089	0.0014	0.0022	0.0038	0.0107	0	0.0067	0.0102	0.0097	0.0085	0.0012	0.253	0.31834	T	0.18	0.29442	T	0.93	0.54977	P	0.101	0.37039	B	0.137335	0.18416	U	0.313700	0.96396	0.26002	N	0.69	0.16971	N	1.5	0.59851	T	-0.87	0.25770	N	0.118	0.38129	-1.1182	0.02448	T	0.047	0.19958	T	10	0.0030137002	0.00049	T	.	.	.	0.038	0.09825	.	.	0.652612595319	0.64972	0.3464085266059002	0.34554	0.286032070692	0.31010	0.75061070919	0.74537	T	0.016355	0.13533	T	-0.468964	0.00863	T	-0.434734	0.29399	T	0.00540732706620864	0.00059	T	0.80292	0.46458	T	0.070502795	0.15535	0.06573638	0.13366	0.070502795	0.15535	0.06573638	0.13366	-4.756	0.34074	T	.	.	0.115	0.24934	B	.;.;.;.	.;.;.;.	2.815104	0.37074	20.4	0.99272703967946552	0.57627	0.49899	0.28539	N	ALL	0.145095	0.26822	N	-0.342391479532855	0.27552	1.512599	-0.307804334956785	0.27846	1.548071	0.999999999981601	0.74766	0.65757	0.49021	0	0.52208	0.09955	0	0.52208	0.10781	0	0.604282	0.37693	0	.	.	3.18	2.18	0.26813	0.535000	0.22822	2.789000	0.34784	0.586000	0.30580	0.459000	0.26636	0.994000	0.32194	0.962000	0.52141	0.2752:0.7247:0.0:0.0	6.884	0.23370	634	0.64659	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1118.98	34	chr2	230865087	.	C	T	1118.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.730e-01;DP=794;ExcessHet=0.0000;FS=1.534;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.27;ReadPosRankSum=0.900;SOR=0.687	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,942	20	0	1	0
chr2	231216656	231216656	G	A	exonic	ARMC9	.	nonsynonymous SNV	ARMC9:NM_001271466:exon5:c.G367A:p.E123K	.	.	429	1092	1	0	0	1	0.000457666	.	.	850630	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.72	T	0.004	B	0.006	B	0.002	N	1.000	N	0.9	L	2.33	T	-1.016	T	0.062	T	0.327	1.895	12.29	3.65	0.644	3.930	7.846	0.058	0.00502367877329	0.0004	.	0.0007	0.0004	0.0003	0	0.0003	0.0011	0.0011	0	0.0006533	101	154602	rs201901213	0.0010	0.0010	0.0010	0.0010	0.0012	0.0010	0.0010	0.0012	0.0011	0.0006	0.0002	0.0021	0	0.0002	0.0002	0.0012	0.0010	0	0.0008	0.0008	0.0008	0.0008	0.0012	0.0007	0.0006	0.0010	0.0009	0.0005	0	0.0003	0.0014	0	9.42e-05	0.0068	0.0012	0.0009	0	0.511	0.07473	T	0.388	0.17064	T	0.004	0.12183	B	0.006	0.12133	B	0.001726	0.38161	N	0.309345	0.999958	0.19072	N	1.39	0.34934	L	2.33	0.42122	T	-1.15	0.29525	N	0.105	0.17828	-1.0159	0.25045	T	0.062	0.25887	T	10	0.009439439	0.00213	T	0.005024	0.12690	T	0.058	0.16647	.	.	0.393316636838	0.38940	0.3083734940306559	0.30750	0.245369413854	0.27068	0.43195939064	0.29476	T	0.087709	0.38001	T	-0.462839	0.00944	T	-0.444877	0.28263	T	0.00849006759933505	0.00103	T	0.853215	0.54193	D	0.034452178	0.03867	0.08344278	0.19121	0.034452178	0.03867	0.08344278	0.19121	-5.988	0.46179	T	.	.	0.061	0.01909	B	.;.;.;.	.;.;.;.	2.535931	0.32792	19.15	0.98513653019398717	0.42374	0.92374	0.55564	D	AEFBI	0.315956	0.42038	N	-0.513095414127223	0.21655	1.15089	-0.391366815540338	0.25253	1.387659	0.804831696283892	0.24251	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.5	3.65	0.40985	4.026000	0.56942	3.090000	0.36275	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	0.969000	0.54022	0.1452:0.135:0.7198:0.0	7.846	0.28586	946	0.12043	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1406.98	33	chr2	231216656	.	G	A	1406.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.270e-01;DP=822;ExcessHet=0.0000;FS=1.561;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.56;ReadPosRankSum=-2.300e-02;SOR=0.540	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1234	20	0	1	0
chr2	231460686	231460688	TCC	-	exonic	NCL	.	nonframeshift deletion	NCL:NM_005381:exon4:c.792_794del:p.E271del,	.	.	403	1114	5	0	0	5	0.00223914	.	.	719700	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0166	.	0.0042	0.0209	0.0023	0.0043	0.0041	0.0019	0.0011	0.0043	0.0008452	22	26028	rs199829854	0.0023	0.0023	0.0023	0.0023	0.0212	0.0022	0.0022	0.0199	0.0194	0.0212	0.0025	0.0013	0.0025	0.0053	0.0029	0.0014	0.0030	0.0040	0.0072	0.0072	0.0071	0.0074	0.0201	0.0069	0.0067	0.0189	0.0185	0.0201	0	0.0036	0.0023	0.0022	0.0035	0	0.0018	0.0076	0.0026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3562.94	36	chr2	231460685	.	TTCC	T	3562.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.952;DP=888;ExcessHet=0.0000;FS=1.964;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.46;ReadPosRankSum=-4.930e-01;SOR=0.871	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1182	20	0	1	0
chr2	232024311	232024311	A	G	exonic	DIS3L2	.	nonsynonymous SNV	DIS3L2:NM_001257281:exon4:c.A245G:p.E82G	Perlman syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.995	D	0.941	D	0.004	N	1.000	D	2.98	M	0.91	T	-0.302	T	0.309	T	0.887	4.029	20.7	5.6	2.248	7.860	16.086	0.502	0.0789319223204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.78490	D	0.025	0.92824	D	0.668	0.67487	P	0.271	0.67658	B	0.003644	0.34662	N	0.262255	0.999999	0.81001	D	2.62	0.76659	M	0.91	0.44856	T	-3.77	0.82221	D	0.833	0.91621	-0.3019	0.74932	T	0.309	0.67931	T	10	0.66479504	0.70364	D	0.078932	0.73118	D	0.502	0.78475	0.392	0.41606	0.305252298933	0.30134	0.7671091951868693	0.76659	0.68014917732	0.59968	0.722881555557	0.70467	T	0.27843	0.71852	T	0.252505	0.78835	D	0.12493	0.78561	D	0.985744178295135	0.76648	D	0.927407	0.73631	D	0.21740258	0.44222	0.41115364	0.65355	0.21740258	0.44222	0.41115364	0.65355	-12.885	0.88883	D	.	.	0.912	0.83600	P	.;.;.;.;.	.;.;.;.;.	4.230766	0.64072	24.7	0.99897095784245138	0.96971	0.98938	0.88891	D	AEFBI	0.841179	0.75840	D	0.721965830015146	0.81072	7.437447	0.723246955047047	0.84144	8.210872	0.999975466450158	0.50053	0.732398	0.92422	0	0.708844	0.79440	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.6	5.6	0.84997	7.241000	0.77652	11.201000	0.89033	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.086	0.80857	492	0.76569	.;Rrp44-like cold shock domain;.;Rrp44-like cold shock domain;Rrp44-like cold shock domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	54.98	82	chr2	232024311	.	A	G	54.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.815e+00;DP=828;ExcessHet=0.0000;FS=51.876;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.67;ReadPosRankSum=0.926;SOR=5.132	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1248	20	0	1	0
chr2	232024314	232024314	C	G	exonic	DIS3L2	.	nonsynonymous SNV	DIS3L2:NM_001257281:exon4:c.C248G:p.A83G	Perlman syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	825854	not_provided|Perlman_syndrome	MedGen:C3661900|MONDO:MONDO:0009965,MedGen:C0796113,OMIM:267000,Orphanet:2849	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.29	T	0.924	P	0.747	P	0.000	D	1.000	D	1	L	1.46	T	-1.077	T	0.102	T	0.424	3.136	16.48	4.73	1.509	3.853	17.060	0.128	0.0211095370799	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs113426398	4.106e-05	0.0005	4.655e-05	3.553e-05	0.0002	3.221e-05	2.946e-05	3.661e-05	3.31e-05	6.278e-05	0	3.916e-05	0	0	0.0002	4.737e-05	1.707e-05	2.481e-05	0	6.58e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.069	0.44029	T	0.039	0.92824	D	0.002	0.51285	B	0.001	0.55931	B	0.000325	0.45700	D	0.139629	0.996724	0.49637	D	2.285	0.65182	M	1.46	0.32238	T	-2.46	0.63554	N	0.571	0.64308	-1.0775	0.07841	T	0.102	0.37768	T	10	0.2936415	0.46938	T	0.02111	0.43827	T	0.128	0.35103	0.529	0.63560	0.165150595986	0.16160	0.7595944105354142	0.75907	0.226757036249	0.25220	0.726713240147	0.71027	T	0.077672	0.58365	T	-0.0843859	0.38997	T	-0.358991	0.38168	T	0.871802926063538	0.52169	D	0.756624	0.37993	T	0.15638953	0.35294	0.1687717	0.38861	0.15638953	0.35294	0.1687717	0.38860	-11.365	0.82471	D	0.33199929049229404	0.43000	0.458	0.62592	A	.;.;.;.;.	.;.;.;.;.	3.127233	0.42246	21.5	0.99608925615720612	0.74694	0.94787	0.62328	D	AEFBI	0.311518	0.41723	N	-0.0514419700394296	0.39539	2.333234	0.0774640283824017	0.43418	2.643929	0.715598805957634	0.22870	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.6	4.73	0.59485	3.442000	0.52663	3.333000	0.37643	-0.175000	0.10903	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.8728:0.1271:0.0	17.060	0.86419	492	0.76569	.;Rrp44-like cold shock domain;.;Rrp44-like cold shock domain;Rrp44-like cold shock domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	54.98	82	chr2	232024314	.	C	G	54.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.038e+00;DP=876;ExcessHet=0.0000;FS=52.501;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.67;ReadPosRankSum=1.16;SOR=5.131	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1248	20	0	1	0
chr2	232379060	232379060	A	G	exonic	ALPP	.	nonsynonymous SNV	ALPP:NM_001632:exon2:c.A166G:p.K56E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.99	D	0.956	D	0.000	D	0.977	D	3.65	H	-4.45	D	1.006	D	0.946	D	0.293	2.125	13.06	2.32	1.065	6.515	4.975	0.537	0.12471556478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.022	0.57587	D	0.99	0.63424	D	0.956	0.69739	D	0.000000	0.84330	D	0.048823	0.976617	0.39292	D	3.5	0.92762	M	-4.45	0.97538	D	-3.33	0.66206	D	0.725	0.72656	1.006	0.97281	D	0.946	0.98222	D	10	0.9681376	0.96341	D	0.124716	0.80611	D	0.537	0.80605	0.823	0.93527	0.986406002549	0.98625	0.9694720816100146	0.96935	0.521686403637	0.49932	0.642269194126	0.58887	T	0.745307	0.92978	D	0.217415	0.75531	D	0.0745256	0.75213	D	0.984297335147858	0.75652	D	0.814918	0.46941	T	0.8930248	0.90768	0.714031	0.83124	0.8930248	0.90769	0.714031	0.83125	-11.492	0.82288	D	.	.	0.412	0.60226	A	.	.	4.395531	0.67869	25.2	0.99582015630016629	0.73040	0.97341	0.74138	D	AEFDGBI	0.599832	0.59270	D	0.456217009981731	0.64557	4.712891	0.231947892265508	0.51628	3.343751	0.0858958279427192	0.15994	0.421363	0.06395	0	0.547309	0.14657	0	0.536957	0.11973	0	0.562822	0.20929	0	.	.	2.32	2.32	0.27895	6.669000	0.74302	8.751000	0.78219	0.384000	0.20435	1.000000	0.71638	1.000000	0.68203	0.042000	0.14466	0.6391:0.183:0.0:0.1779	4.975	0.13484	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1423.98	113	chr2	232379060	.	A	G	1423.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.180e+00;DP=2696;ExcessHet=0.0000;FS=1.466;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.82;MQRankSum=1.38;QD=12.17;ReadPosRankSum=-1.118e+00;SOR=0.848	GT:AD:DP:GQ:PL	0/0:128,0:128:99:0,120,1800	20	0	1	0
chr2	232381290	232381290	C	G	exonic	ALPP	.	nonsynonymous SNV	ALPP:NM_001632:exon10:c.C1232G:p.T411R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.35	M	-4.11	D	1.053	D	0.940	D	0.746	3.285	17.03	2.35	1.294	4.851	11.176	0.681	0.154595679134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999992	0.58761	D	3.365	0.91266	M	-4.11	0.96687	D	-5.62	0.86758	D	0.907	0.90818	1.053	0.98185	D	0.940	0.98026	D	10	0.93901074	0.93228	D	0.154596	0.83568	D	0.681	0.88300	0.579	0.70476	0.974988454498	0.97471	0.9566890913273798	0.95653	3.5385108973	0.99787	0.67681491375	0.63813	T	0.645459	0.89177	D	0.359765	0.87236	D	0.279001	0.87070	D	0.993907630443573	0.84907	D	0.924807	0.72410	D	0.9761114	0.98799	0.8704868	0.92899	0.9761114	0.98799	0.8704868	0.92900	-10.51	0.76905	D	.	.	0.722	0.73863	P	.	.	4.391702	0.67780	25.1	0.97623466091998834	0.34977	0.89073	0.49324	D	AEFDGBI	0.440530	0.49905	N	0.26175732647391	0.54222	3.588428	-0.0124448289624562	0.39151	2.317079	0.998941207027076	0.38034	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	2.35	2.35	0.28166	5.293000	0.65478	4.685000	0.44339	0.333000	0.19617	1.000000	0.71638	1.000000	0.68203	0.016000	0.10718	0.0:1.0:0.0:0.0	11.176	0.47825	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	949.98	48	chr2	232381290	.	C	G	949.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.840e-01;DP=1415;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=49.25;MQRankSum=-4.880e-01;QD=3.34;ReadPosRankSum=0.092;SOR=0.720	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,117,1755	20	0	1	0
chr2	232407089	232407089	C	G	exonic	ALPG	.	nonsynonymous SNV	ALPG:NM_031313:exon2:c.C100G:p.Q34E,	.	.	426	1070	26	0	0	26	0.0120037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.024	B	0.01	B	0.067	N	1.000	N	2.72	M	1.2	T	-0.999	T	0.087	T	0.116	-1.848	0.009	-0.276	-0.074	-0.050	2.424	0.027	.	.	.	0.0185	0.0118	0.0080	0.0423	0.0379	0.0176	0.0264	0.0133	0.0001423	22	154602	rs146369944	0.0020	0.0031	0.0021	0.0020	0.0060	0.0020	0.0020	0.0044	0.0039	0.0015	0.0008	7.681e-05	0.0008	0.0260	0.0060	0.0011	0.0024	0.0010	0.0034	0.0035	0.0024	0.0045	0.0023	0.0032	0.0031	0.0020	0.0019	0.0010	0	0.0005	0	0.0014	0.0272	0.0068	0.0023	0.0024	0.0017	0.206	0.19927	T	0.604	0.07842	T	0.024	0.19075	B	0.01	0.14941	B	0.067388	0.21744	N	0.518247	1	0.08975	N	2.255	0.64187	M	1.2	0.37405	T	-1.59	0.38345	N	0.182	0.19728	-0.9989	0.30227	T	0.087	0.33662	T	10	0.010338604	0.00230	T	.	.	.	0.027	0.05988	.	.	.	.	0.8038667715211593	0.80340	0.165376590012	0.18654	0.414885997772	0.27132	T	0.057159	0.30489	T	-0.590284	0.00167	T	-0.621835	0.11042	T	0.0116233311594767	0.00177	T	0.0672933	0.00489	T	0.060269307	0.12347	0.052819178	0.08778	0.060269307	0.12346	0.052819178	0.08778	-7.742	0.59299	D	.	.	0.096	0.15296	B	.	.	0.535574	0.09040	5.825	0.20155188850739872	0.00712	0.07167	0.13193	N	AEFDBCI	0.084601	0.17147	N	-0.942842410891978	0.09854	0.4682348	-1.10739888169491	0.07557	0.3680996	0.123914479892608	0.16946	0.729952	0.87565	0	0.610034	0.51514	0	0.877121	0.99996	0	0.613276	0.41899	0	.	.	2.19	-0.276	0.12264	-0.634000	0.05575	1.500000	0.26949	-0.573000	0.04775	0.000000	0.06391	0.604000	0.25734	0.021000	0.11733	0.2975:0.4607:0.1215:0.1203	2.424	0.04183	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	33.98	69	chr2	232407089	.	C	G	33.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.344e+00;DP=1803;ExcessHet=0.0000;FS=0.778;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.86;MQRankSum=-1.289e+01;QD=0.16;ReadPosRankSum=0.506;SOR=0.545	GT:AD:DP:GQ:PL	0/0:98,0:98:99:0,120,1800	20	0	1	0
chr2	232407385	232407385	A	T	exonic	ALPG	.	nonsynonymous SNV	ALPG:NM_031313:exon3:c.A284T:p.Y95F,	.	.	422	1099	1	0	0	1	0.000454752	.	.	708106	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.44	T	0.004	B	0.023	B	0.000	N	0.966	D	0.905	L	-4.03	D	0.082	D	0.651	D	0.253	-0.102	3.498	2.15	1.228	5.502	10.638	0.354	.	0.0038	0.000798722	0.0047	0.0005	0.0010	0	0.0258	0.0056	0.0079	0.0002	0.0041461	641	154602	rs112965314	0.0047	0.0047	0.0048	0.0046	0.0048	0.0046	0.0046	0.0047	0.0046	0.0005	0.0010	0.0014	0	0.0239	0.0007	0.0048	0.0033	0.0003	0.0045	0.0045	0.0040	0.0051	0.0049	0.0042	0.0041	0.0045	0.0043	0.0008	0.0077	0.0012	0.0006	0	0.0269	0	0.0049	0.0033	0.0002	0.439	0.09291	T	0.329	0.18617	T	0.004	0.12183	B	0.023	0.19966	B	0.000022	0.55875	N	0.121890	0.965998	0.38502	D	1.155	0.29575	L	-4.03	0.96434	D	-2.53	0.54864	D	0.338	0.37923	0.082	0.83849	D	0.651	0.87827	D	10	0.0076283514	0.00173	T	.	.	.	0.354	0.67510	.	.	0.516715673709	0.51313	0.6107076595843246	0.61002	0.144314673095	0.16289	0.379582226276	0.22198	T	0.594786	0.86927	D	-0.238549	0.15535	T	-0.110308	0.62586	T	0.0179533172581384	0.00521	T	0.893511	0.63097	D	0.21547768	0.43981	0.10247308	0.24562	0.21547768	0.43981	0.10247308	0.24562	-3.415	0.15259	T	.	.	0.124	0.25978	B	.	.	2.137013	0.27209	17.38	0.66176236724274862	0.07983	0.79790	0.39608	D	AEFDGBCI	0.331133	0.43095	N	-0.590669849856803	0.19227	1.004628	-0.54769153269538	0.20868	1.12624	0.999834761353013	0.43792	0.660377	0.49826	0	0.59043	0.45803	0	0.696353	0.63694	0	0.613276	0.41899	0	.	.	2.15	2.15	0.26590	4.687000	0.61396	7.572000	0.60737	0.513000	0.23382	0.996000	0.39380	1.000000	0.68203	0.008000	0.08271	1.0:0.0:0.0:0.0	10.638	0.44767	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2158.98	69	chr2	232407385	.	A	T	2158.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.74;DP=1926;ExcessHet=0.0000;FS=0.515;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=0.820;QD=10.18;ReadPosRankSum=-4.690e-01;SOR=0.759	GT:AD:DP:GQ:PL	0/0:98,0:98:99:0,120,1800	20	0	1	0
chr2	232409371	232409371	C	G	exonic	ALPG	.	nonsynonymous SNV	ALPG:NM_031313:exon10:c.C1223G:p.T408R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.405	M	-4.11	D	1.007	D	0.939	D	0.727	3.165	16.59	1.59	0.345	6.508	9.395	0.730	0.0555106851239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999575	0.47641	D	3.635	0.94052	H	-4.11	0.96687	D	-5.62	0.86758	D	0.912	0.91391	1.007	0.97311	D	0.939	0.97999	D	10	0.9017012	0.89532	D	0.055511	0.66263	D	0.730	0.90545	0.582	0.70861	0.925535729078	0.92477	0.9252685344834828	0.92503	3.37465409467	0.99679	0.7576431036	0.75579	T	0.753273	0.93256	D	0.375473	0.88414	D	0.301565	0.88268	D	0.992567777633667	0.83076	D	0.926807	0.73035	D	0.95716333	0.96993	0.78795695	0.87519	0.95716333	0.96993	0.78795695	0.87519	-10.542	0.77088	D	.	.	0.698	0.72856	P	.	.	4.352895	0.66871	25.0	0.98810438186350902	0.46607	0.92233	0.55243	D	AEFDGBCI	0.473376	0.51809	N	0.34968718514256	0.58724	4.046391	0.11385880535536	0.45257	2.792067	0.852220616389389	0.25066	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.542086	0.14980	0	.	.	2.54	1.59	0.22622	6.931000	0.75678	4.633000	0.44124	0.414000	0.20733	1.000000	0.71638	1.000000	0.68203	0.020000	0.11549	0.0:0.7801:0.2199:0.0	9.395	0.37557	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	757.98	34	chr2	232409371	.	C	G	757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=8.40;DP=1245;ExcessHet=0.0000;FS=4.703;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=44.94;MQRankSum=-4.493e+00;QD=4.65;ReadPosRankSum=-1.763e+00;SOR=1.138	GT:AD:DP:GQ:PL	0/0:96,0:96:99:0,120,1800	20	0	1	0
chr2	232526593	232526593	C	G	exonic	CHRND	.	nonsynonymous SNV	CHRND:NM_000751:exon2:c.C117G:p.N39K	Multiple pterygium syndrome, lethal type, Autosomal recessive;Myasthenic syndrome, congenital, 3B, fast-channel, Autosomal recessive	.	0	1506	15	1	0	17	0.00561241	.	.	192261	Congenital_myasthenic_syndrome|not_provided|Lethal_multiple_pterygium_syndrome|not_specified	MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590|MedGen:C3661900|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290,Orphanet:33108|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	0.005	B	0.012	B	0.145	N	1.000	D	2.62	M	-1.28	T	-0.377	T	0.239	T	0.186	1.695	11.63	3.84	1.197	2.392	10.096	0.399	.	0.0012	0.00698882	0.0054	0.0007	0.0192	0.0282	0	0.0018	0.0033	0.0035	0.0050064	774	154602	rs77084550	0.0035	0.0035	0.0035	0.0035	0.0371	0.0034	0.0034	0.0356	0.0349	0.0004	0.0167	0.0002	0.0371	0.0002	0.0024	0.0021	0.0035	0.0036	0.0034	0.0035	0.0031	0.0038	0.0261	0.0032	0.0031	0.0225	0.0212	0.0008	0	0.0118	0	0.0261	0	0.0034	0.0021	0.0038	0.0052	0.034	0.46513	D	0.021	0.66756	D	0.005	0.12996	B	0.012	0.16012	B	0.144507	0.18176	N	0.600408	0.997896	0.81001	D	2.225	0.63025	M	-1.28	0.79376	T	-3.95	0.74661	D	0.354	0.39659	-0.3769	0.72748	T	0.239	0.60714	T	10	0.009984076	0.00224	T	.	.	.	0.399	0.71321	0.6	0.73105	0.88740826396	0.88630	0.7436477591924203	0.74310	0.317858102707	0.34021	0.346195936203	0.17360	T	0.568302	0.85664	D	-0.337794	0.05543	T	-0.238397	0.50954	T	0.0432244219231061	0.04278	T	0.711729	0.33319	T	0.3508388	0.57132	0.4699316	0.69260	0.45212847	0.64176	0.44910714	0.67932	-9.847	0.80872	D	0.4331470553667841	0.51994	0.524	0.65652	A	.;.;.	.;.;.	2.951193	0.39270	20.9	0.99236705885937471	0.56405	0.96189	0.67943	D	AEFDBI	0.691942	0.65177	D	-0.175572978887102	0.34153	1.946022	-0.14906041906412	0.33445	1.913175	0.999999366420887	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.73	3.84	0.43422	2.012000	0.40551	0.131000	0.15046	0.599000	0.40250	1.000000	0.71638	0.479000	0.25092	0.964000	0.52637	0.155:0.6956:0.1494:0.0	10.096	0.41651	917	0.20147	Neurotransmitter-gated ion-channel ligand-binding domain;.;Neurotransmitter-gated ion-channel ligand-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	715.98	36	chr2	232526593	.	C	G	715.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.050e+00;DP=797;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.74;ReadPosRankSum=-1.943e+00;SOR=0.620	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1476	20	0	1	0
chr2	232544900	232544900	A	G	exonic	CHRNG	.	nonsynonymous SNV	CHRNG:NM_005199:exon11:c.A1378G:p.N460D,	Escobar syndrome, Autosomal recessive;Multiple pterygium syndrome, lethal type, Autosomal recessive	.	0	1511	10	1	0	12	0.00395517	0.0024	0.172	285318	Autosomal_recessive_multiple_pterygium_syndrome|not_provided|Lethal_multiple_pterygium_syndrome	MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000,Orphanet:2990|MedGen:C3661900|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290,Orphanet:33108	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.18	T	0.571	P	0.226	B	0.877	U	0.978	N	1.07	L	-1.89	D	-0.493	T	0.468	T	0.049	2.353	13.83	4.88	1.809	3.914	14.153	0.242	0.0511886734335	0.0002	0.000399361	0.0005	0.0002	8.688e-05	0	0	0.0002	0	0.0023	0.0003687	57	154602	rs138232636	0.0003	0.0003	0.0002	0.0004	0.0022	0.0003	0.0002	0.0019	0.0018	2.987e-05	0.0002	0	0	0	0.0016	0.0002	0.0004	0.0022	0.0003	0.0003	0.0001	0.0004	0.0033	0.0002	0.0002	0.0021	0.0017	0.0001	0	0.0005	0	0	0	0	0.0001	0.0005	0.0033	0.28	0.15509	T	0.66	0.25286	T	0.005	0.12996	B	0.008	0.13708	B	0.877419	0.08780	U	0.905665	0.977844	0.25287	N	1.525	0.38595	L	-1.89	0.84557	D	-0.45	0.14782	N	0.206	0.27792	-0.4928	0.68909	T	0.468	0.79476	T	10	0.011244088	0.00247	T	0.051189	0.64555	D	0.242	0.54781	.	.	0.844340815084	0.84284	.	.	0.245959487969	0.27123	0.304541051388	0.11082	T	0.12043	0.44266	T	-0.402167	0.02241	T	-0.357246	0.38371	T	0.079155748262095	0.09877	T	0.787421	0.42899	T	0.31829092	0.54495	0.3117458	0.57179	0.27824175	0.50879	0.30706838	0.56729	-1.848	0.02656	T	.	.	0.074	0.05188	B	.;.	.;.	3.516897	0.49280	22.8	0.99295945375523942	0.58433	0.75340	0.36883	D	AEFDBCI	0.533927	0.55318	D	-0.0778507318527609	0.38364	2.245899	0.0466743801742749	0.41912	2.525969	0.99999999787588	0.74766	0.421363	0.06395	0	0.550933	0.16991	0	0.514364	0.09456	0	0.727631	0.95156	0	.	.	4.88	4.88	0.63131	6.360000	0.73005	5.858000	0.50403	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.819000	0.38590	1.0:0.0:0.0:0.0	14.153	0.64936	917	0.20147	Neurotransmitter-gated ion-channel transmembrane domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	559.98	35	chr2	232544900	.	A	G	559.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.270e-01;DP=765;ExcessHet=0.0000;FS=7.119;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.33;ReadPosRankSum=0.862;SOR=0.374	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1262	20	0	1	0
chr2	232549510	232549510	C	T	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.G373A:p.A125T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.899	P	0.787	P	.	.	0.996	N	1.355	L	1.56	T	-1.018	T	0.087	T	0.19	1.551	11.14	0.556	0.550	0.441	.	0.055	0.00221796310826	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1287251917	0	1.575e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	0.04561	T	0.483	0.11795	T	0.899	0.49514	P	0.787	0.57594	P	.	.	.	.	0.995699	0.23225	N	0.76	0.19266	N	1.56	0.29602	T	-0.16	0.09460	N	0.18	0.19459	-1.0180	0.24366	T	0.087	0.33746	T	8	0.13647899	0.25966	T	0.002218	0.04206	T	0.055	0.15663	0.354	0.35408	0.301789629655	0.29801	0.03610414074900602	0.03557	.	.	0.356378555298	0.18858	T	0.132155	0.46208	T	-0.262038	0.12662	T	-0.614176	0.11647	T	0.215131044387817	0.21218	T	0.524548	0.17205	T	0.055484157	0.10788	0.12149436	0.29314	0.055484157	0.10787	0.12149436	0.29313	-3.001	0.10191	T	.	.	0.075	0.05360	B	.	.	1.128217	0.15144	11.62	0.92923730072353838	0.22486	0.00797	0.03252	N	AEFGBI	0.037701	0.05224	N	-0.367876417896291	0.26620	1.454231	-0.55746153257013	0.20608	1.111072	0.999881489825719	0.44867	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	0.556	0.556	0.16442	0.442000	0.21343	-0.903000	0.06984	-0.178000	0.10482	0.117000	0.23121	0.011000	0.20116	0.123000	0.19290	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09375	109.63	12	chr2	232549510	.	C	T	109.63	.	AC=3;AF=0.094;AN=32;BaseQRankSum=0.00;DP=241;ExcessHet=0.3300;FS=11.274;InbreedingCoeff=-0.1807;MLEAC=4;MLEAF=0.125;MQ=57.39;MQRankSum=-2.200e+00;QD=4.77;ReadPosRankSum=0.282;SOR=3.258	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,1:9:18:0|1:232549510_C_T:18,0,333:232549510	13	0	3	5
chr2	232549513	232549513	C	T	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.G370A:p.A124T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.899	P	0.787	P	.	.	1.000	N	2.075	M	1.49	T	-0.995	T	0.105	T	0.23	1.050	9.288	0.556	0.550	0.441	.	0.082	0.00219902448544	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1350330081	0	6.293e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.713	0.04008	T	0.506	0.10967	T	0.899	0.49514	P	0.787	0.57594	P	.	.	.	.	0.999546	0.21009	N	2.005	0.54552	M	1.49	0.31470	T	-0.79	0.21860	N	0.165	0.17416	-0.9947	0.31379	T	0.105	0.38538	T	8	0.19243413	0.34971	T	0.002199	0.04151	T	0.082	0.23913	0.398	0.42590	0.313518423057	0.30959	0.02492182665721386	0.02443	.	.	0.374947816133	0.21538	T	0.167545	0.51421	T	-0.225216	0.17286	T	-0.561284	0.16256	T	0.35017939762971	0.27026	T	0.530047	0.17581	T	0.09814924	0.23147	0.13288471	0.31878	0.09814924	0.23147	0.13288471	0.31877	-3.021	0.10409	T	.	.	0.099	0.16886	B	.	.	1.250184	0.16471	12.56	0.86624251774057004	0.16661	0.00561	0.02556	N	AEFGBI	0.038874	0.05567	N	-0.395008947537162	0.25645	1.393746	-0.627644686179088	0.18784	1.004976	0.999881489825719	0.44867	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	0.556	0.556	0.16442	0.442000	0.21343	0.859000	0.22211	0.596000	0.33519	0.037000	0.20830	0.014000	0.20376	0.041000	0.14368	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09375	115.68	12	chr2	232549513	.	C	T	115.68	.	AC=3;AF=0.094;AN=32;BaseQRankSum=1.18;DP=234;ExcessHet=0.3300;FS=11.504;InbreedingCoeff=-0.1832;MLEAC=4;MLEAF=0.125;MQ=57.23;MQRankSum=-2.200e+00;QD=5.51;ReadPosRankSum=0.00;SOR=3.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,1:9:18:0|1:232549510_C_T:18,0,333:232549510	13	0	3	5
chr2	232549518	232549518	A	T	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.T365A:p.V122E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-2.32	N	1.53	T	-0.973	T	0.011	T	0.137	-1.921	0.008	-1.11	-0.426	-0.489	.	0.018	0.00134953199851	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1270623677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999798	0.20333	N	-2.72	0.00030	N	1.53	0.30401	T	1.57	0.00677	N	0.126	0.11912	-0.9733	0.36496	T	0.011	0.04227	T	8	0.028942138	0.01023	T	0.00135	0.01936	T	0.018	0.03083	0.431	0.48007	0.0716867268079	0.06686	0.03137575966878789	0.03086	.	.	0.426254749298	0.28696	T	0.121027	0.44369	T	-0.317638	0.07093	T	-0.694041	0.06158	T	0.043319108104939	0.04297	T	0.0547945	0.00394	T	0.18671499	0.40092	0.18082406	0.40906	0.18671499	0.40092	0.18082406	0.40905	0.811	0.00158	T	.	.	0.048	0.00090	B	.	.	-0.225105	0.02965	0.440	0.88682828380446543	0.18171	0.00124	0.00775	N	AEFGBI	0.022880	0.01201	N	-1.76933389965436	0.00624	0.02692902	-1.70214441879084	0.01128	0.05070815	0.999884870920577	0.44867	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	0.556	-1.11	0.09336	-0.495000	0.06524	0.069000	0.14235	-0.112000	0.15009	0.117000	0.23121	0.164000	0.23286	0.071000	0.16709	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09375	111.69	12	chr2	232549518	.	A	T	111.69	.	AC=3;AF=0.094;AN=32;BaseQRankSum=2.10;DP=244;ExcessHet=0.3300;FS=11.560;InbreedingCoeff=-0.1666;MLEAC=3;MLEAF=0.094;MQ=57.34;MQRankSum=-2.362e+00;QD=5.88;ReadPosRankSum=-3.850e-01;SOR=3.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,1:12:9:0|1:232549510_C_T:9,0,459:232549510	13	0	3	5
chr2	232549519	232549519	C	T	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.G364A:p.V122M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.144	B	0.066	B	.	.	1.000	N	0	N	1.48	T	-1.020	T	0.033	T	0.116	0.461	6.504	-0.456	-0.266	0.441	.	0.016	0.00134745809998	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1330384880	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.28520	T	0.009	0.66756	D	0.144	0.27697	B	0.066	0.27432	B	.	.	.	.	0.999933	0.19363	N	0	0.06538	N	1.48	0.31731	T	0.33	0.03889	N	0.091	0.06990	-1.0195	0.23877	T	0.033	0.14377	T	8	0.05338645	0.05521	T	0.001347	0.01936	T	0.016	0.02506	0.378	0.39319	0.0986583533028	0.09354	0.051309855353736146	0.05072	.	.	0.436837911606	0.30145	T	0.137141	0.46992	T	-0.292978	0.09339	T	-0.658619	0.08360	T	0.0629878365535122	0.07631	T	0.339666	0.07323	T	0.07835389	0.17837	0.12504655	0.30133	0.07835389	0.17837	0.12504655	0.30132	-5.584	0.42646	T	.	.	0.099	0.16800	B	.	.	1.745162	0.22204	15.52	0.85008926846249744	0.15630	0.00734	0.03074	N	AEFGBI	0.037686	0.05218	N	-1.11779158903546	0.06326	0.2909238	-1.16808452328762	0.06449	0.3104785	0.999862968112135	0.44398	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	0.556	-0.456	0.11581	0.442000	0.21343	0.027000	0.13676	-0.180000	0.10397	0.322000	0.25520	0.347000	0.24452	0.171000	0.21011	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09375	111.62	12	chr2	232549519	.	C	T	111.62	.	AC=3;AF=0.094;AN=32;BaseQRankSum=0.447;DP=244;ExcessHet=0.3300;FS=11.560;InbreedingCoeff=-0.1654;MLEAC=3;MLEAF=0.094;MQ=57.34;MQRankSum=-2.362e+00;QD=5.87;ReadPosRankSum=0.00;SOR=3.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,1:12:9:0|1:232549510_C_T:9,0,459:232549510	13	0	3	5
chr2	232549525	232549525	T	C	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.A358G:p.R120G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.65	P	0.415	B	.	.	0.983	N	1.8	L	1.37	T	-1.026	T	0.090	T	0.308	1.026	9.190	0.556	0.465	0.449	.	0.049	0.00253191833817	.	.	.	.	.	.	.	.	.	.	.	.	.	rs988700174	7.622e-06	1.567e-05	8.24e-06	7.09e-06	1.293e-05	1.78e-06	1.2e-06	4.02e-06	2.04e-06	0	0	0	0	0	0	1.293e-05	0	0	6.582e-06	6.57e-06	1.286e-05	0	2.418e-05	0	0	.	.	2.418e-05	0	0	0	0	0	0	0	0	0	0.317	0.13699	T	0.148	0.32675	T	0.65	0.40644	P	0.415	0.44933	B	.	.	.	.	0.98261	0.24951	N	2.05	0.56469	M	1.37	0.34253	T	-0.55	0.16799	N	0.174	0.18649	-1.0255	0.21919	T	0.090	0.34546	T	8	0.18827486	0.34375	T	0.002532	0.05065	T	0.049	0.13647	0.481	0.56142	0.744681466868	0.74238	0.11256495900239101	0.11184	.	.	0.36315536499	0.19845	T	0.240422	0.60874	T	-0.173133	0.24763	T	-0.48647	0.23762	T	0.338491348514844	0.26564	T	0.59884	0.22311	T	0.12546013	0.29411	0.20061272	0.44001	0.12546013	0.29411	0.20061272	0.44000	-7.723	0.59167	D	.	.	0.120	0.24901	B	.	.	2.182338	0.27816	17.59	0.90259914200950342	0.19530	0.05198	0.11021	N	AEFGBI	0.101547	0.20393	N	-0.316897915568869	0.28507	1.572883	-0.431873427428098	0.24067	1.315899	0.999875630302105	0.44625	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	0.556	0.556	0.16442	0.446000	0.21410	0.877000	0.22363	0.661000	0.55757	0.836000	0.30223	0.845000	0.27336	0.794000	0.37478	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	108.43	12	chr2	232549525	.	T	C	108.43	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-1.400e-01;DP=248;ExcessHet=0.1072;FS=15.483;InbreedingCoeff=-0.1313;MLEAC=2;MLEAF=0.059;MQ=54.63;MQRankSum=-2.100e+00;QD=6.02;ReadPosRankSum=-2.820e-01;SOR=3.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:10,0:11:30:0|1:232549510_C_T:0,30,445:232549510	15	0	2	4
chr2	232549530	232549530	G	T	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.C353A:p.A118D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.956	P	0.887	P	.	.	0.923	N	1.935	M	1.29	T	-0.952	T	0.139	T	0.277	1.036	9.231	0.556	0.550	0.529	.	0.081	0.00215114005637	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1484242912	0	4.69e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	0.07994	T	0.592	0.08161	T	0.956	0.54666	P	0.887	0.62952	P	.	.	.	.	0.92348	0.27237	N	1.82	0.47800	L	1.29	0.35775	T	-0.09	0.08340	N	0.182	0.19728	-0.9515	0.40712	T	0.139	0.45640	T	8	0.22539988	0.39368	T	0.002151	0.04016	T	0.081	0.23632	0.393	0.41770	0.730657502441	0.72826	0.08914081496926869	0.08847	.	.	0.392814904451	0.24066	T	0.192982	0.54830	T	-0.181875	0.23458	T	-0.499028	0.22448	T	0.284047822348565	0.24341	T	0.464953	0.13579	T	0.42828092	0.62639	0.34581423	0.60259	0.42828092	0.62639	0.34581423	0.60258	-5.1	0.37908	T	.	.	0.115	0.23113	B	.	.	2.606083	0.33840	19.46	0.89761259335368337	0.19078	0.14941	0.18664	N	AEFGBCI	0.071620	0.14265	N	-0.0341153908112047	0.40315	2.392057	-0.20293493821147	0.31431	1.778708	0.999881489825719	0.44867	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	0.556	0.556	0.16442	0.531000	0.22759	1.215000	0.24935	0.672000	0.70159	0.916000	0.31843	0.908000	0.28083	0.871000	0.41478	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.06667	115.67	11	chr2	232549530	.	G	T	115.67	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-1.242e+00;DP=243;ExcessHet=0.1072;FS=12.481;InbreedingCoeff=-0.1497;MLEAC=3;MLEAF=0.100;MQ=56.99;MQRankSum=-2.100e+00;QD=7.23;ReadPosRankSum=-1.026e+00;SOR=3.611	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:11,0:11:0:.:.:0,0,282	13	0	2	6
chr2	232549541	232549541	-	AAGATCTAGCTAAGATAA	exonic	TIGD1	.	stopgain	TIGD1:NM_145702:exon1:c.341_342insTTATCTTAGCTAGATCTT:p.S115_D591delinsYLS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	69.92	11	chr2	232549541	.	G	GAAGATCTAGCTAAGATAA	69.92	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.800e-01;DP=245;ExcessHet=0.0000;FS=2.774;InbreedingCoeff=-0.0621;MLEAC=1;MLEAF=0.026;MQ=54.48;MQRankSum=-1.282e+00;QD=8.74;ReadPosRankSum=-6.190e-01;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:12,0:12:0:.:.:0,0,338	18	0	1	2
chr2	232549544	232549544	G	T	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.C339A:p.F113L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.259	B	0.418	B	.	.	0.967	N	2.27	M	1.53	T	-0.927	T	0.101	T	0.376	2.525	14.40	0.556	0.550	0.529	.	0.121	0.00236267652008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.026	0.55759	D	0.259	0.31472	B	0.418	0.45020	B	.	.	.	.	0.967305	0.25854	N	2.62	0.76659	M	1.53	0.30401	T	-4.0	0.74051	D	0.21	0.23380	-0.9270	0.44573	T	0.101	0.37443	T	8	0.280205	0.45595	T	0.002363	0.04590	T	0.121	0.33580	0.554	0.67133	0.432041664125	0.42823	0.12028533142734872	0.11955	.	.	0.545122563839	0.45169	T	0.502106	0.82205	D	-0.129141	0.31636	T	-0.423279	0.30699	T	0.878422856330872	0.52835	D	0.648535	0.25952	T	0.4899004	0.66497	0.5744034	0.75346	0.4899004	0.66498	0.5744034	0.75347	-8.831	0.66603	D	.	.	0.904	0.83029	P	.	.	2.162916	0.27555	17.50	0.98988861745164791	0.49902	0.15745	0.19061	N	AEFGBCI	0.076011	0.15280	N	-0.351092346274497	0.27231	1.49243	-0.423638000178826	0.24306	1.330245	0.999881489825719	0.44867	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	0.556	0.556	0.16442	0.531000	0.22759	1.215000	0.24935	0.672000	0.70159	0.935000	0.32453	1.000000	0.68203	0.990000	0.65344	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	66.78	11	chr2	232549544	.	G	T	66.78	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.524;DP=247;ExcessHet=0.0000;FS=2.963;InbreedingCoeff=-0.0597;MLEAC=1;MLEAF=0.025;MQ=54.89;MQRankSum=-1.282e+00;QD=7.42;ReadPosRankSum=-1.282e+00;SOR=1.981	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:12,0:12:0:.:.:0,0,335	19	0	1	1
chr2	232768480	232768480	A	T	exonic	KCNJ13	.	nonsynonymous SNV	KCNJ13:NM_001172417:exon3:c.T554A:p.F185Y	Leber congenital amaurosis 16, Autosomal recessive;Snowflake vitreoretinal degeneration, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	2988420	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.954	P	0.719	P	0.000	D	1.000	D	2.79	M	-3.71	D	0.942	D	0.896	D	0.523	4.253	22.2	4.76	1.048	9.300	13.398	0.858	0.274973403937	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.021	0.58089	D	0.954	0.54400	P	0.719	0.54822	P	0.000000	0.84330	D	0.042564	1	0.81001	D	3.585	0.93597	H	-3.71	0.95387	D	-2.89	0.60665	D	0.624	0.68863	0.942	0.96279	D	0.896	0.96562	D	10	0.94090545	0.93416	D	0.274973	0.90020	D	0.858	0.95655	0.882	0.96934	0.88999436298	0.88890	0.6693653395676826	0.66874	1.51082159887	0.87234	0.680639743805	0.64361	T	0.756589	0.93372	D	0.246706	0.78291	D	0.117	0.78009	D	0.989587426185608	0.79812	D	0.834817	0.50404	T	0.67919654	0.76926	0.644773	0.79234	0.67919654	0.76927	0.644773	0.79235	-5.588	0.42683	T	0.27768476350658194	0.37245	0.39	0.61280	A	.;.	.;.	3.962911	0.58130	23.9	0.99343911415616659	0.60291	0.99296	0.94110	D	AEFDBI	.	.	.	0.722191096846923	0.81086	7.440829	0.698880156440357	0.82293	7.731376	0.999869056408493	0.44398	0.475973	0.10046	0	0.636889	0.57051	0	0.670488	0.60580	0	0.714379	0.83352	0	.	.	5.92	4.76	0.60189	9.290000	0.95109	4.677000	0.44304	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8688:0.1312:0.0:0.0	13.398	0.60309	900	0.24599	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1841.98	33	chr2	232768480	.	A	T	1841.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.289e+00;DP=894;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-6.490e-01;SOR=0.646	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1298	20	0	1	0
chr2	232819834	232819834	C	T	exonic	GIGYF2	.	nonsynonymous SNV	GIGYF2:NM_001103148:exon20:c.C2360T:p.A787V	.	YES	3	1518	0	1	0	2	0.000658328	.	.	213536	Parkinson_disease_11,_autosomal_dominant,_susceptibility_to|not_provided	MONDO:MONDO:0011896,MedGen:C4083045,OMIM:607688,Orphanet:411602|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.2	T	0.965	D	0.722	P	0.000	D	1.000	D	1.245	L	-1.05	T	-0.209	T	0.448	T	0.381	3.660	18.60	5.04	2.333	6.007	18.385	0.361	0.0940817379065	.	.	2.61e-05	0	0	0	0	4.74e-05	0	0	2.59e-05	4	154602	rs748538823	5.936e-05	6.668e-05	6.085e-05	5.786e-05	0.0059	4.756e-05	4.352e-05	0.0041	0.0035	8.053e-05	0.0001	5.804e-05	0	0	0.0059	3.389e-05	0.0001	2.469e-05	5.961e-05	6.407e-05	3.148e-05	9.276e-05	0.0003	2.773e-05	1.889e-05	3.158e-05	2.012e-05	0	0	0.0001	0	0	0	0	8.077e-05	0	0.0003	0.043	0.46513	D	0.25	0.24123	T	0.888	0.48822	P	0.3	0.41053	B	0.000000	0.84330	D	0.051269	0.999999	0.58761	D	.	.	.	-1.05	0.76690	T	-0.92	0.27669	N	0.507	0.53884	-0.2087	0.77447	T	0.448	0.78336	T	10	0.31536648	0.48969	T	0.094082	0.76188	D	0.361	0.68141	.	.	0.292174397486	0.28832	0.1570317945368268	0.15624	0.302835185573	0.32607	0.783016264439	0.79384	T	0.12152	0.44453	T	-0.0871847	0.38541	T	-0.176474	0.56848	T	0.341248321631318	0.26673	T	0.948505	0.92647	D	0.3058027	0.53420	0.19343862	0.42913	0.26395226	0.49461	0.16504398	0.38201	-6.648	0.51418	T	.	.	0.194	0.42834	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.721988	0.75965	26.4	0.99710176912624282	0.81283	0.99464	0.96353	D	AEFBI	0.726708	0.67528	D	0.353107381105094	0.58902	4.065608	0.411998168311791	0.62312	4.44446	0.999999893934508	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.04	5.04	0.67293	5.062000	0.64156	7.687000	0.65600	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:1.0:0.0:0.0	18.385	0.90408	810	0.42761	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.025	731.33	66	chr2	232819834	.	C	T	731.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.172e+00;DP=1231;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0371;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=14.06;ReadPosRankSum=-8.150e-01;SOR=0.732	GT:AD:DP:GQ:PL	0/0:70,0:70:85:0,85,2428	19	0	1	1
chr2	232847515	232847515	C	0	exonic	GIGYF2	.	.	.	.	.	20	155	23	3	25	54	0.0855457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2555.11	33	chr2	232847515	.	C	CCG,*	2555.11	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=2.00;DP=2129;ExcessHet=0.3300;FS=0.797;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=6.74;ReadPosRankSum=0.403;SOR=0.758	GT:AD:DP:GQ:PL	0/0:126,0,0:126:99:0,120,1800,120,1800,1800	18	0	1	0
chr2	232847516	232847519	CACA	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	43047.11	33	chr2	232847516	.	CACA	C,*	43047.11	.	AC=17,2;AF=0.405,0.048;AN=42;BaseQRankSum=-2.081e+00;DP=2385;ExcessHet=2.1081;FS=4.230;InbreedingCoeff=-0.0572;MLEAC=17,2;MLEAF=0.405,0.048;MQ=60.00;MQRankSum=0.00;QD=21.31;ReadPosRankSum=0.139;SOR=0.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,54,0:132:99:0|1:232847516_CACA_C:1889,0,2939,2124,3102,5226:232847516	6	3	10	0
chr2	232847517	232847517	A	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	2757.23	33	chr2	232847517	.	A	*,AG	2757.23	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=-8.110e-01;DP=2381;ExcessHet=1.0911;FS=4.374;InbreedingCoeff=0.0455;MLEAC=19,1;MLEAF=0.452,0.024;MQ=60.00;MQRankSum=0.00;QD=1.42;ReadPosRankSum=-1.791e+00;SOR=1.006	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:62,54,0:119:99:.:.:1924,0,2812,2145,2802,4919	6	4	10	0
chr2	233032726	233032726	G	A	exonic	NEU2	.	nonsynonymous SNV	NEU2:NM_005383:exon1:c.G55A:p.A19T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.005	B	0.001	B	0.452	N	1.000	N	1.4	L	-1.65	D	-0.855	T	0.340	T	0.032	0.599	7.227	0.455	-0.223	0.642	5.085	0.195	0.0357634774371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.005	0.12996	B	0.001	0.04355	B	0.452084	0.04821	N	1.336970	1	0.08975	N	-0.395	0.03011	N	-1.65	0.82625	D	3.49	0.00088	N	0.03	0.00717	-0.8553	0.51599	T	0.340	0.70624	T	10	0.092514694	0.16297	T	0.035763	0.56560	D	0.195	0.47612	0.532	0.64002	0.737609170456	0.73526	0.3754733138972625	0.37461	0.126505603577	0.14259	0.311518281698	0.12135	T	0.140644	0.47528	T	-0.243422	0.14916	T	-0.587436	0.13888	T	0.0247859399574268	0.01244	T	0.636336	0.25008	T	0.053458735	0.10118	0.045178838	0.06021	0.053458735	0.10117	0.045178838	0.06020	-2.334	0.04745	T	.	.	0.083	0.09191	B	.	.	-0.057395	0.03902	0.857	0.35077685269920733	0.02181	0.02227	0.06474	N	AEFBI	0.024282	0.01477	N	-1.13320437768368	0.06061	0.2779976	-1.11403929563525	0.07431	0.3614466	0.997099776647312	0.35269	0.516011	0.20929	0	0.610034	0.51514	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.48	0.455	0.15862	0.363000	0.20037	-1.025000	0.06567	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.345000	0.25546	0.4635:0.0:0.3991:0.1374	5.085	0.14010	687	0.59234	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1446.98	34	chr2	233032726	.	G	A	1446.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.495e+00;DP=780;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.04;ReadPosRankSum=1.31;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,38:76:99:0|1:233032726_G_A:1461,0,1481:233032726	20	0	1	0
chr2	233032730	233032730	A	G	exonic	NEU2	.	nonsynonymous SNV	NEU2:NM_005383:exon1:c.A59G:p.Y20C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.47	M	-2.02	D	0.670	D	0.756	D	0.972	4.562	24.7	5.48	2.058	9.072	14.759	0.970	0.297876541089	.	.	.	.	.	.	.	.	.	.	.	.	.	rs973664616	4.104e-06	4.104e-06	4.084e-06	4.125e-06	5.974e-05	1.48e-06	9.7e-07	9.89e-06	3.7e-06	5.974e-05	0	0	2.519e-05	0	0	2.698e-06	0	0	2.628e-05	2.627e-05	5.139e-05	0	9.65e-05	8.14e-06	5.14e-06	3.249e-05	1.914e-05	9.65e-05	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000076	0.52346	D	0.000000	0.999999	0.58761	D	3.2	0.89116	M	-2.02	0.85542	D	-8.6	0.97464	D	0.963	0.97317	0.670	0.92801	D	0.756	0.91693	D	10	0.98559344	0.98820	D	0.297877	0.90783	D	0.970	0.99647	.	.	0.972727464864	0.97243	0.7621299884849364	0.76160	0.651292258203	0.58372	0.65041655302	0.60046	T	0.785658	0.94382	D	0.320683	0.84518	D	0.391991	0.91848	D	0.998652517795563	0.94768	D	0.822518	0.48242	T	0.83226633	0.86060	0.84400517	0.91104	0.83226633	0.86062	0.84400517	0.91104	-9.251	0.69299	D	.	.	0.372	0.57969	A	.	.	4.466372	0.69563	25.4	0.99838186865267409	0.91886	0.99802	0.99565	D	AEFBI	0.893673	0.83185	D	0.849220358175006	0.89065	9.820351	0.81246201735602	0.90647	10.50306	0.999999999989781	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.48	5.48	0.80675	9.289000	0.95087	5.253000	0.48099	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	1.0:0.0:0.0:0.0	14.759	0.69210	687	0.59234	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1446.98	34	chr2	233032730	.	A	G	1446.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.548;DP=780;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.04;ReadPosRankSum=1.21;SOR=0.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,38:76:99:0|1:233032726_G_A:1461,0,1481:233032726	20	0	1	0
chr2	233125750	233125750	A	G	exonic	INPP5D	.	nonsynonymous SNV	INPP5D:NM_001017915:exon4:c.A355G:p.S119G	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.056	N	1.000	N	.	.	-2.9	D	-0.123	T	0.586	D	0.337	0.120	4.646	1.3	-0.033	0.653	3.388	0.367	0.0410445523946	7.7e-05	0.000599042	0.0004	0.0001	0	0	0	0	0.0049	0.0032	0.0003363	52	154602	rs367778042	0.0002	0.0002	0.0001	0.0003	0.0029	0.0002	0.0002	0.0026	0.0025	2.99e-05	0	0	0	1.875e-05	0.0005	5.04e-05	0.0003	0.0029	8.536e-05	8.53e-05	5.141e-05	0.0001	0.0027	4.954e-05	3.96e-05	0.0016	0.0013	0	0	0	0	0	0	0	0	0	0.0027	.	.	.	0.501	0.11153	T	0.0	0.02946	B	0.0	0.01387	B	0.055986	0.02080	N	1.881890	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.102	0.12341	-0.1226	0.79574	T	0.586	0.85127	D	9	0.003961295	0.00082	T	0.041045	0.59713	D	0.367	0.68670	.	.	0.319686207203	0.31575	0.22191490475690914	0.22106	0.522889218915	0.50007	0.328349530697	0.14685	T	0.217836	0.58038	T	-0.43213	0.01439	T	-0.397493	0.33676	T	0.0148600041866302	0.00314	T	.	.	.	0.026433587	0.01700	0.039217014	0.03965	0.026433587	0.01700	0.039217014	0.03965	-3.837	0.21358	T	.	.	0.050	0.00179	B	.;.	.;.	0.863058	0.12354	8.894	0.61669219812412612	0.06767	0.03071	0.07982	N	AEFDBCI	0.047469	0.07996	N	-1.05120320636646	0.07564	0.351799	-1.07351787209536	0.08224	0.4034258	0.999952055189956	0.48110	0.706548	0.73137	0	0.702456	0.74545	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.09	1.3	0.20778	0.479000	0.21938	2.776000	0.34703	0.756000	0.94297	0.002000	0.15269	0.847000	0.27355	0.015000	0.10482	0.4834:0.0:0.1806:0.336	3.388	0.06856	790	0.46189	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2327.98	34	chr2	233125750	.	A	G	2327.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.400e-01;DP=1070;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=-4.000e-02;SOR=0.665	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1323	20	0	1	0
chr2	233204361	233204361	G	A	exonic	INPP5D	.	nonsynonymous SNV	INPP5D:NM_001017915:exon26:c.G3211A:p.G1071S	.	.	424	1080	15	3	0	21	0.00962861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.97	T	0.001	B	0.005	B	0.226	N	1.000	N	.	.	-3.85	D	-0.079	T	0.555	D	0.28	-1.568	0.015	-3.65	-0.664	-0.077	4.583	0.363	.	0.0009	0.00399361	0.0044	0.0004	0.0008	0.0001	0.0245	0.0021	0.0096	0.0119	0.0034993	541	154602	rs201835044	0.0023	0.0023	0.0020	0.0027	0.0121	0.0023	0.0022	0.0115	0.0112	0.0001	0.0010	0.0025	0.0001	0.0242	0.0056	0.0007	0.0024	0.0121	0.0032	0.0032	0.0018	0.0046	0.0141	0.0029	0.0029	0.0114	0.0104	0.0002	0	0.0005	0.0023	0.0006	0.0267	0.0068	0.0015	0.0019	0.0141	0.81	0.03036	T	0.649	0.07196	T	0.001	0.07471	B	0.005	0.11217	B	0.226060	0.03487	N	1.502010	1	0.08975	N	.	.	.	-3.91	0.96047	D	-0.16	0.09460	N	0.033	0.00882	-0.0794	0.80567	T	0.555	0.83724	D	9	0.005005479	0.00108	T	.	.	.	0.363	0.68319	.	.	0.64318162235	0.64023	0.21220313058028137	0.21136	0.568978505272	0.53093	0.376267433167	0.21727	T	0.189903	0.54427	T	-0.29231	0.09406	T	-0.182271	0.56313	T	0.00114685909032254	0.00011	T	.	.	.	0.022848252	0.00977	0.034002054	0.02391	0.022848252	0.00977	0.034002054	0.02390	-3.568	0.17395	T	.	.	0.068	0.03773	B	.;.;.	.;.;.	0.266732	0.06449	2.920	0.9359925467849376	0.23455	0.05062	0.10853	N	AEFDBCI	0.022055	0.01055	N	-1.31630893350496	0.03488	0.1558982	-1.37956244714507	0.03471	0.1619534	0.999948501950974	0.47345	0.631515	0.41029	0	0.697927	0.68747	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	3.54	-3.65	0.04212	-0.151000	0.10160	-0.481000	0.08919	-0.102000	0.15922	0.474000	0.26753	0.000000	0.08366	0.638000	0.32368	0.429:0.0:0.3988:0.1722	4.583	0.11660	825	0.40060	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3471.11	33	chr2	233204361	.	G	A	3471.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.76;DP=899;ExcessHet=0.1072;FS=0.971;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=1.91;SOR=0.644	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1208	19	0	2	0
chr2	233204551	233204551	C	T	exonic	INPP5D	.	nonsynonymous SNV	INPP5D:NM_001017915:exon26:c.C3401T:p.P1134L	.	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.001	B	0.001	B	0.019	U	1.000	N	.	.	-3.91	D	0.020	D	0.660	D	0.388	-1.661	0.012	-4.16	-0.519	-0.440	4.246	0.354	0.147818789023	.	0.000399361	0.0004	0	0.0008	0	0	0.0006	0	0	0.0001552	24	154602	rs532718867	0.0002	0.0002	0.0002	0.0002	0.0047	0.0002	0.0002	0.0033	0.0029	3.089e-05	0.0011	0.0004	0	2.048e-05	0.0047	0.0001	0.0007	4.932e-05	0.0004	0.0004	0.0003	0.0004	0.0018	0.0003	0.0003	0.0012	0.0011	7.215e-05	0	0.0018	0	0	0	0	0.0003	0.0009	0	0.177	0.22224	T	0.819	0.04181	T	0.001	0.07471	B	0.001	0.04355	B	0.019133	0.01504	U	6.006070	1	0.08975	N	.	.	.	-3.96	0.96208	D	-1.05	0.27463	N	0.055	0.03283	0.020	0.82663	D	0.660	0.88197	D	9	0.0176723	0.00379	T	0.147819	0.82980	D	0.354	0.67510	.	.	0.315609569513	0.31162	0.09317335944909032	0.09249	0.584107567837	0.54097	0.385226637125	0.22995	T	0.250897	0.62107	T	-0.228416	0.16858	T	-0.158656	0.58472	T	0.0236219805652542	0.01098	T	.	.	.	0.02409736	0.01209	0.026626023	0.00762	0.02409736	0.01209	0.026626023	0.00762	-4.762	0.34145	T	.	.	0.059	0.01252	B	.;.;.	.;.;.	0.502921	0.08720	5.493	0.85495525980243048	0.15928	0.13060	0.17640	N	AEFDBCI	0.037793	0.05251	N	-1.62464319502627	0.01147	0.04981579	-1.70578497543546	0.01112	0.04997918	0.999897924454708	0.45129	0.631515	0.41029	0	0.697927	0.68747	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	4.09	-4.16	0.03606	-0.439000	0.06967	-0.450000	0.09105	-0.926000	0.02173	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.4117:0.3774:0.0:0.2108	4.246	0.10123	825	0.40060	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1473.98	33	chr2	233204551	.	C	T	1473.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.12;DP=1014;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.20;ReadPosRankSum=-4.230e-01;SOR=0.641	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1208	20	0	1	0
chr2	233320749	233320749	G	A	exonic	SAG	.	nonsynonymous SNV	SAG:NM_000541:exon5:c.G301A:p.A101T,	Oguchi disease-1, Autosomal recessive;Retinitis pigmentosa 47	.	0	1474	42	6	0	54	0.017988	.	.	177079	not_provided|not_specified|Oguchi_disease|Retinitis_pigmentosa	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019152,MedGen:C1306122,Orphanet:75382|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.3	T	0.016	B	0.005	B	0.738	N	1.000	N	0.805	L	2.62	T	-0.953	T	0.013	T	0.095	0.524	6.837	-0.751	-0.043	-0.398	0.131	0.082	.	0.0053	0.00519169	0.0072	0.0009	0.0108	0.0007	0.0003	0.0096	0.0111	0.0057	0.0046183	714	154602	rs141521563	0.0055	0.0055	0.0054	0.0056	0.0217	0.0054	0.0054	0.0186	0.0174	0.0014	0.0065	0.0039	7.618e-05	0.0008	0.0217	0.0060	0.0060	0.0039	0.0049	0.0049	0.0052	0.0047	0.0103	0.0047	0.0045	0.0090	0.0085	0.0012	0.0022	0.0103	0.0037	0	0.0005	0.0442	0.0070	0.0109	0.0033	0.388	0.11406	T	0.478	0.11968	T	0.016	0.17332	B	0.005	0.11217	B	0.738102	0.09799	N	0.890096	1	0.08975	N	0.27	0.09956	N	2.62	0.12988	T	0.04	0.06488	N	0.085	0.06190	-0.9528	0.40485	T	0.013	0.04985	T	10	0.00363034	0.00066	T	.	.	.	0.082	0.23913	.	.	0.254244900254	0.25046	0.17835848608187713	0.17754	0.116900116094	0.13183	0.233760118484	0.02257	T	0.039324	0.25150	T	-0.703368	0.00035	T	-0.779948	0.02455	T	0.00457881012053394	0.00049	T	.	.	.	0.048743807	0.08546	0.047433566	0.06829	0.060242333	0.12337	0.04567798	0.06200	-3.757	0.20164	T	.	.	0.062	0.01367	B	.;.	.;.	1.185281	0.15760	12.08	0.96521220570154986	0.30115	0.04053	0.09499	N	AEFDBI	0.087851	0.17813	N	-0.980965216979719	0.09011	0.4247244	-1.01176104578037	0.09525	0.4744348	0.744458308868908	0.23263	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.46	-0.751	0.10518	-0.611000	0.05718	-1.023000	0.06573	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.156000	0.20513	0.2868:0.244:0.2244:0.2448	0.131	0.00068	861	0.33516	Arrestin-like, N-terminal;Arrestin-like, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	1377.98	33	chr2	233320749	.	G	A	1377.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.810e-01;DP=855;ExcessHet=0.0000;FS=8.640;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=-1.331e+00;SOR=1.366	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	20	0	1	0
chr2	233334975	233334975	C	T	exonic	SAG	.	nonsynonymous SNV	SAG:NM_000541:exon11:c.C820T:p.P274S,	Oguchi disease-1, Autosomal recessive;Retinitis pigmentosa 47	.	0	225	1	0	0	1	0.00221729	.	.	285382	Oguchi_disease|Retinitis_pigmentosa|not_provided	MONDO:MONDO:0019152,MedGen:C1306122,Orphanet:75382|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.751	P	0.285	B	0.000	D	0.998	D	1.46	L	2.33	T	-1.142	T	0.038	T	0.28	1.930	12.41	4.57	2.542	1.281	10.298	0.059	0.00535895033766	8e-05	.	4.969e-05	0	0	0	0	7.493e-05	0	6.057e-05	3.88e-05	6	154602	rs369789189	4.858e-05	4.857e-05	4.084e-05	5.639e-05	0.0005	3.927e-05	3.605e-05	0.0001	7.541e-05	0	0	0	0	0	0.0005	5.307e-05	1.657e-05	9.275e-05	4.595e-05	4.593e-05	5.138e-05	4.028e-05	0.0004	2.107e-05	1.526e-05	7.301e-05	3.033e-05	0	0	0	0	0	0	0.0034	5.879e-05	0	0.0004	0.125	0.27310	T	0.128	0.34959	T	0.652	0.40767	P	0.285	0.40506	B	0.000013	0.62929	D	0.155509	0.998254	0.44686	D	1.67	0.42885	L	2.33	0.16492	T	-3.08	0.63323	D	0.284	0.32148	-1.1424	0.01271	T	0.038	0.16290	T	10	0.22296426	0.39062	T	0.005359	0.13740	T	0.059	0.16972	.	.	0.505701759113	0.50209	0.5359907500512351	0.53524	0.157102473469	0.17741	0.407085597515	0.26053	T	0.280121	0.65282	T	-0.357477	0.04274	T	-0.546717	0.17643	T	0.177998930215836	0.19108	T	.	.	.	0.11668303	0.27518	0.14675233	0.34755	0.11668303	0.27518	0.14675233	0.34754	-5.672	0.43443	T	.	.	0.122	0.25396	B	.	.	3.115689	0.42041	21.5	0.99503943184082744	0.68206	0.51403	0.28887	D	AEFBI	0.128363	0.24611	N	0.000962806001155329	0.41898	2.514535	0.010941254679469	0.40222	2.397003	0.999981373010379	0.51787	0.497415	0.19182	0	0.547309	0.14657	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	4.57	4.57	0.55860	1.865000	0.39117	5.956000	0.51737	0.599000	0.40250	0.898000	0.31380	1.000000	0.68203	0.524000	0.29567	0.0:0.9085:0.0:0.0915	10.298	0.42816	878	0.29785	Arrestin C-terminal-like domain|Arrestin C-terminal-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	672.98	34	chr2	233334975	.	C	T	672.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.328;DP=754;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=0.554;SOR=0.826	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1277	20	0	1	0
chr2	233335071	233335071	G	A	exonic	SAG	.	nonsynonymous SNV	SAG:NM_000541:exon11:c.G916A:p.E306K,	Oguchi disease-1, Autosomal recessive;Retinitis pigmentosa 47	YES	0	1521	1	0	0	1	0.000328623	.	.	2749233	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.994	D	0.000	D	1.000	D	2.84	M	3.11	T	-1.022	T	0.088	T	0.672	4.828	27.4	4.57	2.542	9.192	16.687	0.275	0.0321503963129	.	.	.	.	.	.	.	.	.	.	.	.	.	rs397514682	1.232e-05	1.231e-05	5.446e-06	1.926e-05	0.0002	7.7e-06	6.35e-06	6.246e-05	4.757e-05	0	0	0	5.038e-05	0	0.0002	2.698e-06	3.313e-05	0.0001	1.313e-05	1.312e-05	0	2.684e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.053	0.38863	T	0.005	0.72224	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.655	0.77738	M	3.11	0.08194	T	-3.37	0.66665	D	0.907	0.90818	-1.0220	0.23063	T	0.088	0.34133	T	10	0.7971338	0.79171	D	0.03215	0.54051	D	0.275	0.59130	0.539	0.65018	0.703980281492	0.70141	0.7037248417315666	0.70313	0.587072184464	0.54300	0.818653285503	0.84822	D	0.382201	0.74434	T	-0.124582	0.32377	T	-0.235202	0.51265	T	0.973209202289581	0.70002	D	.	.	.	0.5053662	0.67409	0.42527598	0.66341	0.5053662	0.67410	0.42527598	0.66341	-11.78	0.83762	D	.	.	0.309	0.53671	B	.	.	5.541562	0.91968	32	0.99925017486802559	0.99042	0.96012	0.67135	D	AEFBCI	0.915787	0.88107	D	0.85607533802623	0.89452	9.977384	0.771396448962076	0.87744	9.329313	0.999999999992292	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	4.57	4.57	0.55860	10.003000	0.99689	11.814000	0.97026	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.911000	0.44643	0.0:0.0:1.0:0.0	16.687	0.85170	878	0.29785	Arrestin C-terminal-like domain|Arrestin C-terminal-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	860.98	34	chr2	233335071	.	G	A	860.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.160e-01;DP=782;ExcessHet=0.0000;FS=0.877;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=-2.550e-01;SOR=0.902	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1277	20	0	1	0
chr2	233462650	233462650	A	G	exonic	DGKD	.	nonsynonymous SNV	DGKD:NM_001377259:exon24:c.A2702G:p.N901S	.	.	406	1104	11	1	0	13	0.00585322	.	.	3205201	DGKD-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.93	T	0.0	B	0.001	B	0.046	N	0.982	N	0.01	N	-1.0	T	-0.963	T	0.138	T	0.011	-1.213	0.066	-1.44	-0.346	0.323	4.868	0.135	.	.	0.00319489	0.0030	0	0.0006	0	0	8.996e-05	0.0077	0.0210	0.0025614	396	154602	rs201384247	0.0012	0.0012	0.0006	0.0018	0.0189	0.0011	0.0011	0.0182	0.0178	2.987e-05	4.473e-05	0	0	0	0.0016	7.195e-06	0.0013	0.0189	0.0006	0.0006	0.0003	0.0009	0.0172	0.0005	0.0004	0.0142	0.0131	2.406e-05	0	0	0	0	0	0	0	0	0.0172	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.046294	0.23454	N	0.439500	0.981593	0.25027	N	-0.14	0.04484	N	-1.0	0.78199	T	0.16	0.05217	N	0.059	0.03069	-0.9630	0.38606	T	0.138	0.45545	T	10	0.004060954	0.00079	T	.	.	.	0.135	0.36572	0.256	0.19689	0.407223025684	0.40337	0.06614763545967561	0.06553	0.388573688024	0.40119	0.328598856926	0.14722	T	0.05319	0.29372	T	-0.380252	0.03105	T	-0.608135	0.12136	T	0.00399687234021469	0.00042	T	.	.	.	0.021439802	0.00746	0.025286177	0.00569	0.021439802	0.00746	0.025286177	0.00569	-1.101	0.01118	T	.	.	0.067	0.02927	B	.;.	.;.	0.526691	0.08954	5.735	0.20337870859659538	0.00727	0.59331	0.30886	D	AEFBCI	0.070745	0.14055	N	-1.04244424391411	0.07736	0.3604049	-0.910491983081611	0.11846	0.6059977	0.696190951250509	0.22644	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.08	-1.44	0.08391	0.137000	0.15816	-0.179000	0.11150	-0.054000	0.16847	0.736000	0.28985	0.000000	0.08366	0.676000	0.33425	0.4875:0.278:0.2345:0.0	4.868	0.12976	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1167.98	33	chr2	233462650	.	A	G	1167.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.735;DP=818;ExcessHet=0.0000;FS=2.416;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.98;ReadPosRankSum=1.26;SOR=0.964	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr2	233469434	233469434	C	T	exonic	DGKD	.	nonsynonymous SNV	DGKD:NM_001377259:exon28:c.C3220T:p.R1074C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.995	D	0.696	P	0.000	D	0.999	D	2.095	M	-1.26	T	0.160	D	0.536	D	0.474	4.046	20.8	4.55	2.500	2.765	13.713	0.480	0.0759628593796	.	0.000199681	1.456e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs537522172	8.958e-06	1.026e-05	1.233e-05	5.547e-06	1.183e-05	5e-06	3.85e-06	3.82e-06	2.77e-06	0	0	3.865e-05	0	0	0	8.124e-06	3.339e-05	1.183e-05	3.283e-05	3.281e-05	3.855e-05	2.686e-05	0.0002	1.26e-05	7.98e-06	1.972e-05	1.124e-05	0	0	0	0	0.0002	0	0	5.879e-05	0	0	0.001	0.78490	D	0.01	0.65728	D	0.99	0.67487	D	0.696	0.54017	P	0.000491	0.43931	D	0.149903	0.996114	0.46798	D	2.18	0.61292	M	-1.26	0.80730	T	-2.49	0.54217	N	0.433	0.50146	0.160	0.85228	D	0.536	0.82825	D	10	0.24645707	0.41911	T	0.075963	0.72416	D	0.480	0.77077	0.416	0.45544	0.779731230594	0.77770	0.277549278063158	0.27667	1.41397950274	0.85491	0.607537508011	0.53967	T	0.236025	0.60341	T	-0.0441661	0.45330	T	-0.121535	0.61677	T	0.989601671695709	0.79831	D	.	.	.	0.3097562	0.53765	0.22037257	0.46810	0.3097562	0.53765	0.22037257	0.46809	-8.053	0.61431	D	.	.	0.134	0.32945	B	.;.	.;.	5.131718	0.85875	28.7	0.99916043679945488	0.98379	0.87157	0.46612	D	AEFBHCI	0.398161	0.47395	N	0.531175313127867	0.68945	5.287359	0.503026497963457	0.68194	5.186489	0.99994246854133	0.47345	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.55	4.55	0.55429	2.563000	0.45585	3.853000	0.40098	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.803000	0.37862	0.1546:0.8454:0.0:0.0	13.713	0.62156	929	0.16858	Sterile alpha motif domain|Sterile alpha motif domain;Sterile alpha motif domain|Sterile alpha motif domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	772.98	62	chr2	233469434	.	C	T	772.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.00;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.47;ReadPosRankSum=0.092;SOR=0.689	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr2	233682719	233682719	A	G	exonic	UGT1A7	.	nonsynonymous SNV	UGT1A7:NM_019077:exon1:c.A782G:p.Y261C,	.	.	0	225	1	0	0	1	0.00221729	.	.	2765406	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.965	D	0.838	P	.	.	1.000	N	3.56	H	-0.21	T	-0.539	T	0.424	T	0.465	0.965	8.939	-4.48	-0.432	0.846	1.921	0.084	0.0208213117217	7.7e-05	.	4.135e-05	0	0	0	0	6.024e-05	0	6.057e-05	3.23e-05	5	154602	rs149070815	5.679e-05	5.678e-05	5.31e-05	6.052e-05	0.0003	4.677e-05	4.302e-05	6.247e-05	4.758e-05	0	0	0	2.519e-05	0	0.0003	6.026e-05	4.97e-05	0.0001	4.595e-05	4.593e-05	5.138e-05	4.028e-05	0.0004	2.107e-05	1.526e-05	7.296e-05	3.031e-05	0	0	0	0	0	0	0.0034	5.879e-05	0	0.0004	0.001	0.78490	D	0.002	0.79402	D	0.965	0.56013	D	0.838	0.60045	P	.	.	.	.	0.999998	0.08975	N	2.945	0.84822	M	-0.21	0.66294	T	-6.94	0.93440	D	0.5	0.53269	-0.5387	0.67212	T	0.424	0.76790	T	9	0.6534005	0.69733	D	0.020821	0.43488	T	0.142	0.37995	.	.	0.670102749503	0.66731	0.39604303921993367	0.39519	0.517718159117	0.49631	.	.	.	0.707792	0.91641	D	-0.168942	0.25395	T	-0.282807	0.46515	T	0.741931438446045	0.42841	D	0.974802	0.91047	D	0.42633238	0.62511	0.46760744	0.69114	0.42633238	0.62511	0.46760744	0.69115	-11.472	0.82184	D	0.751926338263983	0.83399	0.690	0.72565	P	.	.	1.989503	0.25272	16.70	0.95401412193048718	0.26852	0.16689	0.19504	N	AEFI	0.186687	0.31399	N	-0.496576595025204	0.22193	1.183271	-0.84868399099656	0.13319	0.6903021	0.0715248435469765	0.15570	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.92	-4.48	0.03267	0.435000	0.21228	-0.524000	0.08673	-0.838000	0.02813	0.003000	0.16062	0.000000	0.08366	0.007000	0.07825	0.4341:0.1283:0.0788:0.3588	1.921	0.03106	475	0.77788	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2503.98	37	chr2	233682719	.	A	G	2503.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.063;DP=998;ExcessHet=0.0000;FS=4.531;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.64;ReadPosRankSum=0.413;SOR=0.445	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr2	233713263	233713263	G	A	exonic	UGT1A5	.	nonsynonymous SNV	UGT1A5:NM_019078:exon1:c.G272A:p.R91H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.0	B	0.001	B	0.006	N	1.000	N	0.86	L	0.19	T	-1.012	T	0.130	T	0.116	1.310	10.29	-0.951	-0.052	-2.367	4.796	0.046	0.00753162089594	0.0002	0.000599042	0.0002	0.0004	8.637e-05	0	0	0.0003	0.0011	6.056e-05	0.000207	32	154602	rs146477190	0.0002	0.0002	0.0002	0.0002	0.0023	0.0002	0.0002	0.0013	0.0011	0.0004	0.0007	0	2.519e-05	0	0.0023	0.0002	0.0002	4.637e-05	0.0002	0.0002	0.0003	0.0002	0.0010	0.0002	0.0002	0.0007	0.0005	0.0002	0	0.0010	0	0	0	0.0034	0.0002	0.0005	0	0.143	0.25355	T	0.126	0.35205	T	0.0	0.02946	B	0.001	0.04355	B	0.005512	0.01082	N	2.671850	0.999998	0.08975	N	-0.55	0.02420	N	0.19	0.60236	T	-0.02	0.07299	N	0.04	0.01347	-1.0123	0.26196	T	0.130	0.43968	T	10	0.010831237	0.00239	T	0.007532	0.19979	T	0.046	0.12618	.	.	0.352048277211	0.34822	0.11379301854272544	0.11307	0.202802321583	0.22698	.	.	.	0.054366	0.29704	T	-0.555941	0.00268	T	-0.671048	0.07542	T	0.00400212585119706	0.00042	T	0.39826	0.10085	T	0.027412951	0.01931	0.02383666	0.00397	0.027412951	0.01930	0.02383666	0.00397	-4.086	0.25083	T	0.09600375939302476	0.06596	0.073	0.04640	B	.	.	-0.776105	0.01154	0.055	0.91828188306988989	0.21138	0.01117	0.04079	N	AEFBCI	0.072876	0.14559	N	-1.2537209038352	0.04250	0.1914851	-1.29588461189858	0.04486	0.2117138	0.989349224192145	0.31795	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.83	-0.951	0.09840	-2.581000	0.00981	-9.493000	0.00814	-0.602000	0.04611	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4885:0.2834:0.2281:0.0	4.796	0.12639	481	0.77356	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2469.98	33	chr2	233713263	.	G	A	2469.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.975;DP=1789;ExcessHet=0.0000;FS=5.282;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.03;ReadPosRankSum=2.26;SOR=0.648	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1409	20	0	1	0
chr2	233729862	233729862	G	T	exonic	UGT1A3	.	nonsynonymous SNV	UGT1A3:NM_019093:exon1:c.G736T:p.V246L,	.	.	418	1092	9	3	0	15	0.00682128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.88	P	0.651	P	.	.	1.000	N	-0.145	N	0.14	T	-1.045	T	0.103	T	0.133	-0.697	0.980	3.1	0.641	-1.663	4.207	0.107	0.0202958720907	0.0003	0.000399361	0.0008	0	0.0005	0.0001	0	0.0011	0.0022	0.0008	0.000705	109	154602	rs146461519	0.0005	0.0005	0.0004	0.0006	0.0075	0.0005	0.0005	0.0057	0.0051	0.0001	0.0009	0.0011	2.519e-05	3.744e-05	0.0075	0.0004	0.0012	0.0013	0.0004	0.0004	0.0004	0.0004	0.0008	0.0004	0.0003	0.0005	0.0005	7.226e-05	0	0.0005	0.0012	0	0	0.0068	0.0007	0.0005	0.0008	0.647	0.04897	T	0.671	0.06284	T	0.88	0.48402	P	0.651	0.52497	P	.	.	.	.	1	0.08975	N	0.65	0.16133	N	0.14	0.60854	T	-0.12	0.08809	N	0.051	0.02272	-1.0446	0.15942	T	0.103	0.37869	T	9	0.020301044	0.00466	T	0.020296	0.42866	T	0.107	0.30369	0.35	0.34760	0.556500605119	0.55309	0.23874016186969665	0.23788	0.0746738777092	0.08380	.	.	.	0.062271	0.31873	T	-0.539274	0.00338	T	-0.592958	0.13411	T	0.0331653533117172	0.02498	T	0.250275	0.03772	T	0.057707038	0.11518	0.05807759	0.10671	0.057707038	0.11517	0.05807759	0.10670	-1.683	0.02185	T	0.11112597090426783	0.09469	0.163	0.36073	B	.	.	0.536588	0.09050	5.835	0.69367463529244211	0.08949	0.09681	0.15382	N	AEFBI	0.755393	0.69497	D	-0.722585577991354	0.15387	0.7750542	-0.823032687513184	0.13937	0.7257032	0.00719069019561272	0.11405	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.0	3.1	0.34780	-0.661000	0.05410	-2.619000	0.03542	0.520000	0.23804	0.000000	0.06391	0.000000	0.08366	0.043000	0.14563	0.0899:0.3876:0.3797:0.1428	4.207	0.09952	509	0.75304	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	5529.11	105	chr2	233729862	.	G	T	5529.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.38;DP=2436;ExcessHet=0.1072;FS=1.104;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.98;MQRankSum=0.966;QD=11.94;ReadPosRankSum=0.376;SOR=0.610	GT:AD:DP:GQ:PL	0/0:87,0:87:99:0,120,1800	19	0	2	0
chr2	233729915	233729915	G	A	exonic	UGT1A3	.	nonsynonymous SNV	UGT1A3:NM_019093:exon1:c.G789A:p.M263I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.121	B	0.156	B	.	.	1.000	N	0.13	N	0.22	T	-0.981	T	0.093	T	0.168	2.177	13.24	1.03	-0.107	-0.838	1.589	0.062	0.0119575968845	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	0.0003	5.5e-07	1.5e-07	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.41364	D	0.042	0.50226	D	0.121	0.26708	B	0.156	0.34472	B	.	.	.	.	1	0.81001	D	0.895	0.22405	L	0.22	0.59851	T	-0.7	0.19933	N	0.119	0.10911	-0.9808	0.34817	T	0.093	0.35283	T	9	0.123094976	0.23361	T	0.011958	0.30096	T	0.062	0.17934	0.621	0.75576	0.384919354899	0.38110	0.3104681372276974	0.30959	0.037394554916	0.03967	.	.	.	0.090966	0.38697	T	-0.165697	0.25888	T	-0.475789	0.24894	T	0.123196175823481	0.14739	T	0.720328	0.33319	T	0.17362446	0.38121	0.18182833	0.41071	0.17362446	0.38121	0.18182833	0.41070	-2.494	0.05740	T	0.10740397345085057	0.08739	0.410	0.60150	A	.	.	1.663939	0.21216	15.10	0.98313176817799752	0.40164	0.15874	0.19123	N	AEFBI	0.752516	0.69299	D	-0.729031270161134	0.15209	0.7644923	-0.680850657869737	0.17440	0.9273428	0.00268472058520643	0.09631	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.0	1.03	0.19161	-0.096000	0.11027	-1.395000	0.05540	0.520000	0.23804	0.826000	0.30074	0.000000	0.08366	0.870000	0.41412	0.1652:0.1269:0.3223:0.3857	1.589	0.02491	509	0.75304	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2581.98	105	chr2	233729915	.	G	A	2581.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.13;DP=2121;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.51;MQRankSum=2.35;QD=13.52;ReadPosRankSum=0.037;SOR=0.663	GT:AD:DP:GQ:PL	0/0:87,0:87:99:0,120,1800	20	0	1	0
chr2	233743685	233743685	T	C	exonic	DNAJB3	.	nonsynonymous SNV	DNAJB3:NM_001001394:exon1:c.A232G:p.T78A,	.	.	262	1239	19	2	0	23	0.00919632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.00179712	0.0024	0.0018	0.0008	0.0009	0.0008	0.0031	0.0022	0.0025	0.0020892	323	154602	rs192235508	0.0023	0.0019	0.0022	0.0024	0.0161	0.0022	0.0022	0.0131	0.0120	0.0017	0.0012	0.0002	0.0004	0.0016	0.0161	0.0023	0.0031	0.0030	0.0022	0.0022	0.0023	0.0021	0.0031	0.0020	0.0019	0.0028	0.0027	0.0012	0	0.0012	0.0003	0.0010	0.0013	0.0272	0.0031	0.0024	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1697.98	38	chr2	233743685	.	T	C	1697.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.080e-01;DP=1140;ExcessHet=0.0000;FS=0.586;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=0.833;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1149	20	0	1	0
chr2	233789904	233789904	C	T	exonic	MROH2A	.	nonsynonymous SNV	MROH2A:NM_001367507:exon5:c.C461T:p.S154F,	.	.	413	1101	8	0	0	8	0.00361991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	0.156	N	0.796	N	1.87	L	2.74	T	-1.104	T	0.062	T	0.875	4.042	20.7	4.41	2.401	3.726	13.222	0.274	.	.	0.000998403	0.0040	0.0011	0.0034	0	0.0612	0.0058	0.0065	0.0026	0.0014295	221	154602	rs141152795	0.0065	0.0062	0.0067	0.0063	0.0069	0.0064	0.0063	0.0067	0.0067	0.0010	0.0013	0.0023	0	0.0209	0.0028	0.0069	0.0052	0.0022	0.0051	0.0051	0.0048	0.0054	0.0071	0.0048	0.0047	0.0066	0.0064	0.0012	0.0066	0.0009	0.0026	0	0.0187	0	0.0071	0.0038	0.0025	0.017	0.51248	D	0.0	0.92824	D	.	.	.	.	.	.	0.155679	0.17823	N	0.357775	0.795712	0.29174	N	.	.	.	2.74	0.11730	T	-3.12	0.63782	D	0.818	0.83678	-1.1038	0.03661	T	0.062	0.25708	T	8	0.010955572	0.00242	T	.	.	.	0.274	0.59007	.	.	0.260249123532	0.25628	0.6228905632691863	0.62222	2.46197207718E-4	0.00014	.	.	.	0.065751	0.32768	T	-0.223566	0.17509	T	-0.0875156	0.64349	T	0.0158343611239122	0.00371	T	0.79802	0.44234	T	0.16531461	0.36795	0.21548507	0.46140	0.16531461	0.36795	0.21548507	0.46139	-9.47	0.70672	D	.	.	0.897	0.86814	P	.;.	.;.	4.293562	0.65498	24.8	0.99817045495501178	0.90061	0.82229	0.41488	D	AEFDBI	0.458834	0.50969	N	0.32186175946741	0.57272	3.893942	0.356145539269392	0.58878	4.06133	0.141493588581754	0.17281	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.41	4.41	0.52588	3.647000	0.54144	5.642000	0.49152	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	13.222	0.59321	749	0.51929	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1629.98	35	chr2	233789904	.	C	T	1629.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=837;ExcessHet=0.0000;FS=3.224;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.04;ReadPosRankSum=-6.870e-01;SOR=0.694	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1314	20	0	1	0
chr2	233794447	233794447	T	C	exonic	MROH2A	.	nonsynonymous SNV	MROH2A:NM_001367507:exon8:c.T907C:p.Y303H,	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	.	.	.	.	0.005	N	0.925	N	1.67	L	2.82	T	-1.101	T	0.043	T	0.693	3.631	18.47	5.32	2.142	2.269	11.941	0.097	0.0118389574031	.	.	0.0004	0	0	0	0	0.0012	0	0	3.88e-05	6	154602	rs757592602	7.724e-05	7.388e-05	6.633e-05	8.845e-05	0.0005	6.532e-05	6.071e-05	0.0001	7.633e-05	0	2.801e-05	0.0025	0	0	0.0005	2.688e-05	0.0002	1.262e-05	6.571e-05	6.567e-05	0.0001	1.345e-05	2.941e-05	3.517e-05	2.616e-05	4.88e-06	1.83e-06	0	0	0	0.0020	0	9.414e-05	0	2.941e-05	0	0	0.166	0.23183	T	0.0	0.92824	D	.	.	.	.	.	.	0.005206	0.32996	N	0.000000	0.925366	0.27194	N	.	.	.	2.82	0.10871	T	-2.47	0.53898	N	0.653	0.67304	-1.1009	0.03984	T	0.043	0.18618	T	8	0.05623001	0.06270	T	0.011839	0.29861	T	0.097	0.27909	.	.	0.0884992946249	0.08302	0.49130036931435644	0.49051	2.46197207718E-4	0.00014	.	.	.	0.007613	0.07006	T	-0.229851	0.16668	T	-0.319633	0.42616	T	0.0936735942959785	0.11647	T	0.772323	0.40326	T	0.07909447	0.18050	0.15544428	0.36437	0.07909447	0.18050	0.15544428	0.36436	-5.088	0.37780	T	.	.	0.329	0.55159	B	.;.	.;.	3.022806	0.40463	21.2	0.99746346453207069	0.83927	0.67803	0.33566	D	AEFDBI	0.322629	0.42507	N	0.271734676728941	0.54720	3.637042	0.339512877949414	0.57877	3.955403	0.9266842990445	0.26860	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	5.32	5.32	0.75377	2.245000	0.42784	4.850000	0.45366	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0:0.0:0.0:1.0	11.941	0.52188	758	0.50837	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	599.98	34	chr2	233794447	.	T	C	599.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.011;DP=737;ExcessHet=0.0000;FS=1.083;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=0.980;SOR=0.488	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1372	20	0	1	0
chr2	233842020	233842020	C	T	exonic	HJURP	.	nonsynonymous SNV	HJURP:NM_001282963:exon5:c.G505A:p.D169N	.	.	433	1078	11	0	0	11	0.00507614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.335	B	0.15	B	0.134	N	1.000	N	1.04	L	2.89	T	-1.015	T	0.078	T	0.078	1.695	11.63	3.34	1.374	0.179	8.253	0.022	0.00565089478322	.	.	0.0006	0	0	0	0	0.0001	0.0022	0.0039	0.0004851	75	154602	rs202022630	0.0003	0.0003	0.0002	0.0004	0.0039	0.0003	0.0003	0.0035	0.0034	0	8.944e-05	0	0	0	0.0012	7.824e-05	0.0003	0.0039	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	9.695e-05	0.0005	0.0004	2.405e-05	0	6.536e-05	0	0.0002	0	0.0034	0.0002	0.0005	0.0012	0.203	0.26192	T	0.225	0.26467	T	0.335	0.33330	B	0.15	0.34161	B	0.133832	0.18537	N	0.498768	1	0.08975	N	1.185	0.30054	L	2.8	0.39990	T	-2.29	0.56144	N	0.174	0.26717	-1.0153	0.25240	T	0.078	0.31072	T	10	0.006063074	0.00136	T	0.005651	0.14621	T	0.022	0.04323	0.387	0.40788	0.254761474806	0.25079	0.1414699334388066	0.14069	0.106751890607	0.12062	0.339848071337	0.16416	T	0.025799	0.37562	T	-0.612443	0.00122	T	-0.653028	0.08744	T	0.030071836145738	0.02001	T	0.69773	0.31322	T	0.030974463	0.02854	0.039896492	0.04187	0.030974463	0.02853	0.039896492	0.04186	-4.47	0.30494	T	.	.	0.108	0.33778	B	.;.;.;.;.	.;.;.;.;.	1.364422	0.17740	13.34	0.9890937913749942	0.48345	0.13505	0.17894	N	AEFDBCI	0.062198	0.11941	N	-0.621831547377011	0.18289	0.9483346	-0.677775444672102	0.17516	0.9317817	0.999964235869194	0.48965	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.22	3.34	0.37357	0.183000	0.16729	0.834000	0.21977	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.058000	0.15825	0.0:0.8935:0.0:0.1065	8.253	0.30900	889	0.27310	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1746.98	106	chr2	233842020	.	C	T	1746.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.083;DP=2015;ExcessHet=0.0000;FS=8.013;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.40;ReadPosRankSum=-1.580e+00;SOR=0.838	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	20	0	1	0
chr2	233950066	233950066	G	A	exonic	TRPM8	.	nonsynonymous SNV	TRPM8:NM_024080:exon9:c.G1060A:p.V354I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.003	B	0.001	B	0.267	N	1.000	N	-0.415	N	4.48	T	-1.000	T	0.046	T	0.445	-0.796	0.687	-3.27	-0.714	0.055	15.285	0.134	0.00471624297935	.	0.000199681	3.3e-05	0	8.654e-05	0	0	4.498e-05	0	0	3.23e-05	5	154602	rs559072239	1.573e-05	1.642e-05	1.225e-05	1.925e-05	0.0004	1.048e-05	8.75e-06	6.188e-05	2.556e-05	8.961e-05	0	0	0	0	0.0004	9.892e-06	6.624e-05	3.479e-05	5.908e-05	5.905e-05	5.139e-05	6.711e-05	0.0002	3.075e-05	2.208e-05	7.869e-05	5.573e-05	0.0002	0	0	0	0	9.416e-05	0	1.47e-05	0	0	1.0	0.00964	T	0.879	0.07127	T	0.002	0.09854	B	0.001	0.04355	B	0.267280	0.15197	N	0.649587	0.999864	0.19989	N	-0.455	0.02793	N	4.48	0.02067	T	0.21	0.04776	N	0.18	0.20925	-0.9996	0.30030	T	0.046	0.19599	T	10	0.070735544	0.10330	T	0.004716	0.11722	T	0.134	0.36365	0.326	0.30873	0.0920862733494	0.08535	0.19064048613073675	0.18982	0.125427775553	0.14139	0.302065730095	0.10710	T	0.101178	0.40769	T	-0.424069	0.01612	T	-0.610253	0.11964	T	0.0100249423307872	0.00134	T	0.594241	0.23382	T	0.014685483	0.00103	0.036929097	0.03239	0.014685483	0.00103	0.036929097	0.03238	-3.524	0.16769	T	.	.	0.070	0.06205	B	.;.	.;.	-1.057538	0.00693	0.020	0.87436842708098539	0.17226	0.01650	0.05300	N	AEFDBI	0.031080	0.03251	N	-1.51610155598509	0.01743	0.07633994	-1.45779705527199	0.02700	0.1246784	3.86469997770991E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.43	-3.27	0.04735	0.150000	0.16082	0.309000	0.17063	-1.457000	0.01087	0.024000	0.20007	0.003000	0.18671	0.069000	0.16583	0.1965:0.0:0.8035:0.0	15.285	0.73524	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2542.98	35	chr2	233950066	.	G	A	2542.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.55;DP=878;ExcessHet=0.0000;FS=7.393;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=0.241;SOR=1.190	GT:AD:DP:GQ:PL	0/1:88,96:184:99:2557,0,2098	20	0	1	0
chr2	235740993	235740993	A	T	exonic	AGAP1	.	nonsynonymous SNV	AGAP1:NM_001037131:exon4:c.A341T:p.D114V	.	.	414	1103	5	0	0	5	0.00226142	.	.	1925518	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.993	D	0.996	D	0.000	D	1.000	D	3.88	H	1.68	T	-0.221	T	0.266	T	0.936	3.897	19.81	4.8	1.911	9.168	14.664	0.704	0.0880502821085	.	.	0.0002	0	0.0003	0	0	4.497e-05	0	0.0007	0.0001229	19	154602	rs756920826	8.004e-05	8.072e-05	3.267e-05	0.0001	0.0011	6.801e-05	6.355e-05	0.0009	0.0009	0	0.0001	0	0	0	0.0003	1.259e-05	1.656e-05	0.0011	1.313e-05	1.312e-05	2.569e-05	0	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.988	0.65571	D	0.923	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.845	0.95734	H	1.68	0.27184	T	-7.82	0.97757	D	0.95	0.98563	-0.2208	0.77130	T	0.266	0.63749	T	10	0.86080366	0.85299	D	0.08805	0.75057	D	0.704	0.89376	0.804	0.92230	0.841479636562	0.83996	0.8937390900700843	0.89344	1.50946548698	0.87204	0.876686692238	0.93510	D	0.517203	0.87050	D	0.0360054	0.56519	T	0.189788	0.82557	D	0.965130567550659	0.67173	D	0.992801	0.97620	D	0.91145134	0.92430	0.8827041	0.93752	0.91145134	0.92431	0.8827041	0.93752	-16.312	0.98191	D	.	.	0.974	0.94165	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.112926	0.85491	28.6	0.99373119120390863	0.61541	0.96487	0.69383	D	ALL	0.921809	0.89585	D	0.815564975897887	0.87070	9.092701	0.669724946535695	0.80086	7.22155	0.99999999999993	0.74766	0.77792	0.99625	0	0.573888	0.26702	0	0.854111	0.99894	0	0.759125	0.99760	0	.	.	4.8	4.8	0.61157	9.207000	0.94192	10.895000	0.84111	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.871000	0.41478	1.0:0.0:0.0:0.0	14.664	0.68501	988	0.01987	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2964.98	33	chr2	235740993	.	A	T	2964.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.360e+00;DP=885;ExcessHet=0.0000;FS=2.608;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.61;ReadPosRankSum=-1.351e+00;SOR=0.579	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	20	0	1	0
chr2	236123922	236123922	G	A	exonic	AGAP1	.	nonsynonymous SNV	AGAP1:NM_014914:exon17:c.G2215A:p.G739R	.	.	425	1086	10	1	0	12	0.00549451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.941	D	0.000	D	1.000	D	1.61	L	0.66	T	-0.571	T	0.298	T	0.875	3.163	16.58	4.3	1.950	9.570	16.770	0.394	0.202118369348	7.7e-05	.	0.0002	0	0	0	0	6.07e-05	0.0011	0.0015	0.0001876	29	154602	rs150946814	0.0002	0.0002	6.812e-05	0.0002	0.0020	0.0001	0.0001	0.0018	0.0017	2.991e-05	0	0	0	3.753e-05	0.0002	3.958e-05	3.317e-05	0.0020	7.226e-05	7.219e-05	5.141e-05	9.406e-05	0.0015	3.97e-05	3.127e-05	0.0007	0.0005	2.408e-05	0	0	0	0.0002	9.425e-05	0	1.47e-05	0	0.0015	0.09	0.53900	T	0.167	0.39645	T	0.999	0.77913	D	0.941	0.67658	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	0.66	0.52416	T	-5.45	0.85994	D	0.848	0.85872	-0.5713	0.65963	T	0.298	0.66914	T	10	0.28795072	0.46377	T	0.202118	0.86803	D	0.415	0.72555	0.846	0.94965	0.826420395863	0.82477	0.6450951582612725	0.64444	1.14508194576	0.79051	0.827396035194	0.86163	D	0.196196	0.55251	T	-0.0771889	0.40171	T	0.0973326	0.76731	D	0.560399115085602	0.34870	D	0.870213	0.57527	D	0.7864547	0.83053	0.7327346	0.84206	0.7864547	0.83054	0.7327346	0.84207	-12.05	0.85093	D	.	.	0.940	0.85917	P	.;.;.;.;.	.;.;.;.;.	6.285340	0.94945	34	0.99822356038410287	0.90502	0.99174	0.92320	D	AEFDBI	0.932109	0.92195	D	0.290524185728432	0.55668	3.730798	0.294421213854364	0.55214	3.684559	0.999999999192077	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.566861	0.19136	0	0.567892	0.33627	0	.	.	4.3	4.3	0.50540	9.698000	0.97948	9.696000	0.81288	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.041000	0.14368	0.0:0.0:1.0:0.0	16.770	0.85396	988	0.01987	.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2467.98	98	chr2	236123922	.	G	A	2467.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.91;DP=1439;ExcessHet=0.0000;FS=1.258;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.62;ReadPosRankSum=-1.900e-02;SOR=0.686	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1286	20	0	1	0
chr2	236338262	236338262	A	G	exonic	IQCA1	.	nonsynonymous SNV	IQCA1:NM_001270584:exon16:c.T1954C:p.C652R	.	.	436	1078	8	0	0	8	0.00369686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.929	P	0.838	P	0.000	D	1.000	D	0.625	N	-2.32	D	0.182	D	0.530	D	0.857	3.019	16.07	5.47	2.078	8.771	15.251	0.754	0.0768967596714	0.0054	0.00279553	0.0040	0.0010	0.0030	0	0.0008	0.0058	0.0022	0.0026	0.0041461	641	154602	rs115960780	0.0067	0.0067	0.0069	0.0065	0.0080	0.0066	0.0065	0.0079	0.0078	0.0010	0.0020	0.0005	0	0.0022	0.0024	0.0080	0.0054	0.0028	0.0040	0.0040	0.0046	0.0034	0.0071	0.0037	0.0036	0.0066	0.0064	0.0012	0	0.0032	0	0	0.0008	0	0.0071	0.0033	0.0025	0.01	0.56456	D	0.002	0.79402	D	0.339	0.33423	B	0.223	0.37929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-2.32	0.87830	D	-7.9	0.96191	D	0.868	0.86511	0.182	0.85607	D	0.530	0.82559	D	10	0.032767653	0.01436	T	0.076897	0.72642	D	0.754	0.91583	.	.	0.708580960251	0.70603	0.8369696392481973	0.83656	0.219439555169	0.24485	0.719782352448	0.70015	T	0.064586	0.32472	T	0.0267199	0.55284	T	0.270732	0.86611	D	0.0831798781466144	0.10389	T	0.844016	0.52137	T	0.90649337	0.91970	0.84031224	0.90859	0.90649337	0.91971	0.84031224	0.90859	-10.751	0.78274	D	.	.	0.492	0.64252	A	.;.;.	.;.;.	3.495620	0.48878	22.7	0.98463799330663193	0.41768	0.98500	0.83437	D	AEFBI	0.934409	0.92774	D	0.187891728519636	0.50618	3.25003	0.252950952158988	0.52816	3.454065	0.999999999474195	0.74766	0.638212	0.43195	0	0.610034	0.51514	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.47	5.47	0.80345	8.850000	0.91815	10.764000	0.83705	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	1.0:0.0:0.0:0.0	15.251	0.73244	994	0.00715	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	615.98	34	chr2	236338262	.	A	G	615.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.720e-01;DP=780;ExcessHet=0.0000;FS=3.097;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.00;ReadPosRankSum=-2.290e-01;SOR=0.768	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1152	20	0	1	0
chr2	236392065	236392065	C	T	exonic	IQCA1	.	nonsynonymous SNV	IQCA1:NM_001270584:exon10:c.G1201A:p.E401K	.	.	430	1090	1	1	0	3	0.00137426	.	.	3274834	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.989	D	0.742	P	0.000	D	1.000	D	2.56	M	-3.82	D	1.034	D	0.914	D	0.786	5.299	34	5.45	2.550	3.227	17.081	0.791	0.248301215959	.	0.000199681	2.484e-05	0	0	0	0	4.496e-05	0	0	2.59e-05	4	154602	rs531718193	6.159e-06	6.156e-06	1.362e-06	1.1e-05	3.478e-05	2.9e-06	2.1e-06	9.24e-06	4.56e-06	0	0	0	0	0	0	4.498e-06	1.657e-05	3.478e-05	6.563e-06	6.561e-06	0	1.342e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.006	0.61437	D	0.071	0.60972	T	0.931	0.51899	P	0.566	0.49756	P	0.000035	0.55875	D	0.000000	0.999866	0.50061	D	.	.	.	-3.84	0.95826	D	-3.12	0.63782	D	0.531	0.55972	1.034	0.97789	D	0.914	0.97147	D	10	0.43228185	0.57569	T	0.248301	0.89004	D	0.791	0.93108	0.43	0.47843	0.799318804817	0.79744	0.43483806764513905	0.43400	0.26906606016	0.29422	0.616847395897	0.55284	T	0.100519	0.40640	T	0.265277	0.80014	D	0.240129	0.85152	D	0.939521193504333	0.61105	D	0.930207	0.74183	D	0.434774	0.63064	0.35814106	0.61295	0.434774	0.63065	0.35814106	0.61295	-10.488	0.76778	D	.	.	0.158	0.38818	B	.;.;.	.;.;.	4.474945	0.69770	25.4	0.99890277745731437	0.96436	0.94083	0.60061	D	AEFBI	0.471470	0.51700	N	0.636983693576377	0.75527	6.322097	0.631230612236041	0.77221	6.637501	0.999996880180609	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.45	5.45	0.79688	3.852000	0.55642	4.722000	0.44510	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	17.081	0.86473	988	0.01987	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	763.98	34	chr2	236392065	.	C	T	763.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.059;DP=804;ExcessHet=0.0000;FS=0.938;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.47;ReadPosRankSum=0.746;SOR=0.501	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1302	20	0	1	0
chr2	236441072	236441072	C	G	exonic	IQCA1	.	nonsynonymous SNV	IQCA1:NM_001270584:exon7:c.G979C:p.A327P	.	.	437	1078	7	0	0	7	0.00323625	.	.	2819069	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.25	T	0.99	D	0.909	D	0.008	N	0.998	N	2.545	M	-3.35	D	-0.977	T	0.112	T	0.854	1.696	11.63	5.18	2.410	2.731	14.202	0.152	0.036325844311	0.0045	0.00179712	0.0043	0.0021	0.0038	0	0.0012	0.0089	0	0	0.0022898	354	154602	rs191563773	0.0053	0.0052	0.0053	0.0052	0.0063	0.0052	0.0051	0.0062	0.0061	0.0011	0.0019	0.0025	2.692e-05	0.0015	0.0019	0.0063	0.0053	8.773e-05	0.0036	0.0036	0.0040	0.0032	0.0062	0.0034	0.0033	0.0057	0.0056	0.0008	0	0.0033	0.0037	0	0.0019	0.0068	0.0062	0.0038	0	0.183	0.21718	T	0.236	0.24694	T	0.212	0.30008	B	0.087	0.29615	B	0.007838	0.31171	N	0.227866	0.998271	0.22253	N	.	.	.	-3.35	0.94022	D	-3.17	0.64363	D	0.781	0.79792	-0.9773	0.35616	T	0.112	0.40214	T	10	0.025479555	0.00741	T	0.036326	0.56919	D	0.523	0.79765	.	.	0.730328594363	0.72793	0.6609666610692002	0.66033	0.404373649715	0.41337	0.605273604393	0.53649	T	0.040136	0.25426	T	0.036601	0.56597	T	0.283524	0.87310	D	0.0485720106040671	0.05246	T	0.870713	0.58316	D	0.51241946	0.67820	0.543386	0.73608	0.51241946	0.67821	0.543386	0.73608	-7.67	0.58799	D	.	.	0.642	0.71472	P	.;.;.	.;.;.	2.596887	0.33703	19.42	0.99614377771832929	0.74992	0.70003	0.34413	D	AEFBI	0.414806	0.48392	N	0.0792599497260243	0.45495	2.805135	0.013171986313868	0.40326	2.404811	0.119453179421279	0.16845	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.18	5.18	0.71140	2.112000	0.41516	2.446000	0.32792	0.599000	0.40250	0.757000	0.29209	0.987000	0.30940	0.473000	0.28408	0.0:1.0:0.0:0.0	14.202	0.65249	988	0.01987	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	560.98	34	chr2	236441072	.	C	G	560.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.000e-03;DP=758;ExcessHet=0.0000;FS=1.022;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.20;ReadPosRankSum=1.18;SOR=0.549	GT:AD:DP:GQ:PL	0/1:30,25:55:99:575,0,747	20	0	1	0
chr2	236465650	236465650	G	C	exonic	IQCA1	.	nonsynonymous SNV	IQCA1:NM_001270584:exon6:c.C781G:p.R261G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.001	B	0.002	B	0.002	N	1.000	N	1.04	L	-3.31	D	-0.351	T	0.591	D	0.298	0.862	8.490	-8.74	-1.497	-2.582	0.307	0.044	0.0651396542524	.	.	8.399e-06	0	0	0	0	1.515e-05	0	0	6.5e-06	1	154602	rs768931666	6.843e-07	6.841e-07	1.362e-06	0	2.236e-05	0	0	.	.	0	2.236e-05	0	0	0	0	0	0	0	6.574e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.325	0.13349	T	0.24	0.24406	T	0.001	0.07471	B	0.002	0.06944	B	0.001805	0.00828	N	2.740640	1	0.08975	N	.	.	.	-3.31	0.93835	D	-0.96	0.25551	N	0.209	0.28146	-0.3509	0.73527	T	0.591	0.85369	D	10	0.12408587	0.23563	T	0.06514	0.69490	D	0.322	0.64420	0.407	0.44066	0.408988072059	0.40512	0.19831534528679323	0.19748	0.0918896028849	0.10376	0.190599471331	0.00236	T	0.004668	0.04082	T	-0.0768793	0.40219	T	-0.265343	0.48289	T	0.0632910241032809	0.07676	T	0.133787	0.01059	T	0.041060474	0.05978	0.027453091	0.00899	0.041060474	0.05977	0.027453091	0.00899	-6.343	0.49063	T	.	.	0.084	0.12465	B	.;.;.	.;.;.	-0.389776	0.02250	0.231	0.78129258125269097	0.12168	0.02189	0.06400	N	AEFBI	0.086678	0.17575	N	-1.37526680788354	0.02871	0.1274172	-1.50000360235598	0.02345	0.1077041	0.316612623248408	0.19342	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.37	-8.74	0.00725	-2.320000	0.01200	-0.397000	0.09436	-0.103000	0.15852	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.3892:0.1593:0.1532:0.2983	0.307	0.00262	988	0.01987	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	841.98	34	chr2	236465650	.	G	C	841.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.162e+00;DP=759;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=1.40;SOR=0.719	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1216	20	0	1	0
chr2	236580968	236580968	T	C	exonic	ACKR3	.	nonsynonymous SNV	ACKR3:NM_020311:exon2:c.T503C:p.V168A,	.	.	427	1084	11	0	0	11	0.00504819	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.973	D	0.813	P	0.000	D	1.000	D	1.83	L	-0.81	T	-0.248	T	0.432	T	0.386	3.941	20.1	3.31	0.434	4.984	10.025	0.534	0.0359962335538	0.0005	.	0.0004	0	8.637e-05	0	0	0.0005	0.0011	0.0012	0.0004075	63	154602	rs142678508	0.0003	0.0003	0.0003	0.0004	0.0019	0.0003	0.0003	0.0017	0.0016	2.987e-05	4.472e-05	0	2.519e-05	1.873e-05	0.0002	0.0003	0.0002	0.0019	0.0002	0.0002	0.0002	0.0002	0.0008	0.0002	0.0001	0.0003	0.0002	0	0	0.0002	0	0	0	0	0.0004	0.0005	0.0008	0.005	0.63226	D	0.039	0.53426	D	0.973	0.57599	D	0.813	0.58748	P	0.000000	0.84330	D	0.000000	0.99997	0.53665	D	2.495	0.72670	M	-0.81	0.73949	T	-3.63	0.69714	D	0.35	0.39153	-0.2479	0.76416	T	0.432	0.77348	T	10	0.15591606	0.29376	T	0.035996	0.56708	D	0.534	0.80426	.	.	0.822862055848	0.82118	0.8055548524677405	0.80510	0.582402522763	0.53999	0.508637666702	0.40032	T	0.059652	0.71582	T	-0.259622	0.12945	T	-0.181084	0.56423	T	0.271632417765217	0.23817	T	0.69863	0.30863	T	0.4234102	0.62318	0.47074416	0.69311	0.4234102	0.62319	0.47074416	0.69311	-6.39	0.49432	T	.	.	0.551	0.66846	A	.;.	.;.	4.013158	0.59222	24.1	0.99723390853820271	0.82195	0.88203	0.48027	D	AEFGBCI	0.444419	0.50132	N	0.434426253139885	0.63326	4.564141	0.408300462177277	0.62081	4.417714	0.999935672079718	0.46732	0.706548	0.73137	0	0.697927	0.68747	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.7	3.31	0.37025	4.895000	0.62904	4.959000	0.46330	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.1365:0.0:0.8635	10.025	0.41238	981	0.03995	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	10054.11	34	chr2	236580968	.	T	C	10054.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.221e+00;DP=1462;ExcessHet=0.1072;FS=1.744;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=0.331;SOR=0.573	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1195	19	0	2	0
chr2	237336528	237336528	C	T	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057166:exon37:c.G6751A:p.V2251I	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	.	0	1519	3	0	0	3	0.000986518	.	.	134272	Bethlem_myopathy_1A|Collagen_6-related_myopathy|not_specified	MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MONDO:MONDO:0100225,MedGen:CN117976|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.4	T	0.0	B	0.002	B	0.419	N	1.000	N	1.32	L	-2.35	D	-0.700	T	0.383	T	0.054	0.110	4.590	-10.2	-2.810	-1.507	9.120	0.231	.	0.0035	0.00319489	0.0011	0.0111	0.0008	0	0	0.0001	0.0011	0.0002	0.0011125	172	154602	rs111859552	0.0005	0.0005	0.0005	0.0004	0.0118	0.0005	0.0004	0.0109	0.0105	0.0118	0.0012	0	0	0	0.0033	0.0001	0.0011	0.0002	0.0036	0.0036	0.0037	0.0035	0.0124	0.0034	0.0033	0.0115	0.0112	0.0124	0	0.0010	0	0	0	0.0034	0.0001	0.0033	0	0.358	0.12109	T	0.412	0.14456	T	0.0	0.02946	B	0.002	0.06944	B	0.418538	0.04634	N	1.468180	1	0.08975	N	0.365	0.12025	N	-2.36	0.88377	D	-0.04	0.08340	N	0.043	0.01577	-0.7004	0.60419	T	0.383	0.73907	T	10	0.0036545992	0.00067	T	.	.	.	0.231	0.53208	.	.	0.404592120364	0.40076	0.11917684577925919	0.11844	0.119002608991	0.13405	0.222876816988	0.01482	T	0.130297	0.45911	T	-0.521475	0.00431	T	-0.512444	0.21063	T	0.00249116044340943	0.00026	T	0.530047	0.18539	T	0.023113402	0.01025	0.028142508	0.01024	0.015764868	0.00156	0.026346643	0.00719	-3.403	0.15097	T	0.13527209547895142	0.14688	0.062	0.01233	B	.;.;.;.;.	.;.;.;.;.	-0.706997	0.01305	0.070	0.73237855883655534	0.10256	0.02636	0.07232	N	AEFDBHCI	0.064662	0.12568	N	-1.75622507375652	0.00661	0.02853007	-1.89420842077797	0.00503	0.02227125	0.999999999264868	0.74766	0.615465	0.37627	0	0.586423	0.34054	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.09	-10.2	0.00305	-0.889000	0.04252	-2.121000	0.04181	-0.985000	0.01878	0.000000	0.06391	0.000000	0.08366	0.582000	0.30943	0.0:0.2005:0.1982:0.6013	9.120	0.35945	955	0.09969	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1847.98	39	chr2	237336528	.	C	T	1847.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.249e+00;DP=919;ExcessHet=0.0000;FS=2.288;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=-2.780e-01;SOR=0.911	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1575	20	0	1	0
chr2	237340988	237340988	G	A	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057166:exon35:c.C6107T:p.A2036V	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	.	0	1518	4	0	0	4	0.00131579	.	.	134270	Bethlem_myopathy_1A|not_provided|Collagen_6-related_myopathy|Ullrich_congenital_muscular_dystrophy_1A|not_specified	MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MedGen:C3661900|MONDO:MONDO:0100225,MedGen:CN117976|MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090,Orphanet:75840|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.33	T	0.998	D	0.817	P	0.796	N	1.000	N	1.61	L	-1.69	D	-0.281	T	0.491	T	0.13	1.623	11.38	-3.24	-0.343	1.769	17.353	0.309	.	0.0044	0.00439297	0.0022	0.0125	0.0012	0	0.0003	0.0017	0.0022	0.0004	0.002128	329	154602	rs111595697	0.0014	0.0014	0.0015	0.0012	0.0132	0.0013	0.0013	0.0122	0.0118	0.0132	0.0015	0.0010	2.519e-05	0.0007	0.0052	0.0011	0.0023	0.0005	0.0045	0.0045	0.0047	0.0043	0.0136	0.0042	0.0041	0.0127	0.0123	0.0136	0	0.0015	0.0006	0	9.414e-05	0.0034	0.0011	0.0061	0.0006	0.041	0.41915	D	0.003	0.76473	D	0.519	0.73220	P	0.084	0.58928	B	0.795531	0.06737	N	1.140080	1	0.08975	N	1.22	0.30592	L	-1.69	0.93352	D	-2.02	0.48184	N	0.218	0.32921	-0.2807	0.75522	T	0.491	0.80658	T	10	0.00923264	0.00209	T	.	.	.	0.309	0.63055	.	.	0.813045995287	0.81129	0.3948633986367722	0.39401	0.146965676242	0.16583	0.327437072992	0.14547	T	0.278769	0.65143	T	-0.348103	0.04848	T	-0.262414	0.48584	T	0.0142106321201575	0.00280	T	0.870213	0.57812	D	0.075202726	0.16927	0.11716758	0.28285	0.082082115	0.18892	0.114061296	0.27529	-4.648	0.32769	T	0.2066272627534808	0.27597	0.120	0.30971	B	.;.;.;.;.	.;.;.;.;.	1.809854	0.23000	15.85	0.80259997724695853	0.13119	0.20378	0.21019	N	AEFBI	0.389793	0.46887	N	-0.666857349266328	0.16971	0.8693433	-0.786314942363489	0.14830	0.7769681	0.996767896518327	0.34990	0.632932	0.41330	0	0.59043	0.45803	0	0.601832	0.32385	0	0.542086	0.14980	0	.	.	5.05	-3.24	0.04779	1.822000	0.38690	0.008000	0.13396	-0.179000	0.10443	0.078000	0.22289	0.000000	0.08366	0.924000	0.46004	0.0:0.135:0.7831:0.082	17.353	0.87217	955	0.09969	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	2242.98	39	chr2	237340988	.	G	A	2242.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.430e-01;DP=1126;ExcessHet=0.0000;FS=4.336;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=0.339;SOR=0.540	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1243	20	0	1	0
chr2	237381337	237381337	G	C	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057164:exon3:c.C254G:p.T85S	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	.	0	1468	50	4	0	58	0.0193721	.	.	100808	not_specified|Bethlem_myopathy_1A|Collagen_6-related_myopathy|not_provided	MedGen:CN169374|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MONDO:MONDO:0100225,MedGen:CN117976|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.67	T	0.542	P	0.444	B	0.015	N	0.801	D	0.82	L	-1.68	D	-0.524	T	0.304	T	0.182	1.025	9.188	3.64	0.627	0.226	10.912	0.115	.	0.0020	0.00359425	0.0075	0.0012	0.0022	0	0.0123	0.0088	0.0099	0.0116	0.007128	1102	154602	rs113897824	0.0059	0.0060	0.0056	0.0063	0.0140	0.0058	0.0058	0.0116	0.0113	0.0007	0.0020	0.0342	0	0.0100	0.0140	0.0050	0.0071	0.0122	0.0053	0.0053	0.0049	0.0057	0.0133	0.0050	0.0049	0.0107	0.0097	0.0008	0	0.0016	0.0429	0	0.0118	0.0204	0.0058	0.0043	0.0133	0.385	0.35349	T	0.142	0.36233	T	0.542	0.37927	P	0.279	0.40265	B	0.015240	0.28305	N	0.245514	0.801403	0.34516	D	0.935	0.23595	L	-1.68	0.82897	D	-0.89	0.31981	N	0.197	0.25130	-0.5242	0.67759	T	0.304	0.67464	T	10	0.0041661263	0.00082	T	.	.	.	0.115	0.32236	0.356	0.35734	0.582638149471	0.57935	0.28273255772480255	0.28186	0.244890568272	0.27008	0.279157876968	0.07375	T	0.199684	0.55704	T	-0.400147	0.02310	T	-0.337172	0.40666	T	0.00407187472035348	0.00043	T	0.612239	0.30590	T	0.09517698	0.22393	0.07853483	0.17598	0.079272114	0.18101	0.076297514	0.16884	-3.885	0.30283	T	.	.	0.097	0.18122	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.459944	0.18824	13.94	0.95807155714322945	0.27873	0.42820	0.26962	N	AEFBI	0.260702	0.37880	N	-0.69545567415975	0.16151	0.820323	-0.645389732327595	0.18333	0.9788823	0.999450295830064	0.39788	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.5	3.64	0.40864	0.728000	0.25682	4.383000	0.43188	0.676000	0.76740	0.007000	0.17678	1.000000	0.68203	0.934000	0.47231	0.0:0.2658:0.5963:0.1378	10.912	0.46327	931	0.16308	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	3485.98	33	chr2	237381337	.	G	C	3485.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.899e+00;DP=882;ExcessHet=0.0000;FS=1.775;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.25;ReadPosRankSum=-1.220e+00;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1485	20	0	1	0
chr2	237381341	237381341	C	G	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057164:exon3:c.G250C:p.D84H	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	.	0	1468	50	4	0	58	0.0193721	.	.	100807	not_specified|Bethlem_myopathy_1A|Collagen_6-related_myopathy|not_provided	MedGen:CN169374|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MONDO:MONDO:0100225,MedGen:CN117976|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.51	T	0.771	P	0.542	P	0.000	D	1.000	D	2.07	M	-1.8	D	-0.225	T	0.445	T	0.629	1.774	11.89	4.4	2.467	0.822	14.505	0.521	.	0.0018	0.00359425	0.0075	0.0012	0.0022	0	0.0123	0.0088	0.0099	0.0116	0.007128	1102	154602	rs112010940	0.0059	0.0060	0.0056	0.0063	0.0140	0.0058	0.0058	0.0116	0.0113	0.0006	0.0020	0.0342	0	0.0100	0.0140	0.0050	0.0071	0.0122	0.0053	0.0053	0.0049	0.0057	0.0133	0.0050	0.0049	0.0107	0.0097	0.0008	0	0.0016	0.0429	0	0.0118	0.0204	0.0058	0.0043	0.0133	0.004	0.65419	D	0.002	0.92824	D	0.503	0.37206	P	0.464	0.46572	P	0.000032	0.55875	D	0.000000	0.998002	0.58761	D	1.85	0.49092	L	-1.8	0.83893	D	-2.34	0.80595	N	0.408	0.49420	-0.2252	0.77013	T	0.445	0.78136	T	10	0.004274875	0.00086	T	.	.	.	0.521	0.79643	.	.	0.784802411588	0.78281	0.6835498080276483	0.68293	0.447034461529	0.44568	0.377826780081	0.21948	T	0.278705	0.76907	T	-0.214431	0.18760	T	-0.0704044	0.65597	T	0.0245525690017757	0.01215	T	0.836716	0.57527	T	0.35974628	0.57816	0.34155858	0.59894	0.38446113	0.59638	0.3216856	0.58114	-8.526	0.64641	D	.	.	0.380	0.62162	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.134648	0.42367	21.5	0.98249625934338536	0.39558	0.68644	0.33880	D	AEFBI	0.566125	0.57223	D	-0.210755514957118	0.32693	1.846463	-0.18538953988746	0.32072	1.821115	0.999997813254138	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.31	4.4	0.52402	3.131000	0.50210	1.849000	0.29243	0.599000	0.40250	0.769000	0.29345	0.941000	0.28781	0.945000	0.48827	0.0:0.7252:0.2748:0.0	14.505	0.67332	931	0.16308	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	3467.98	33	chr2	237381341	.	C	G	3467.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.867e+00;DP=882;ExcessHet=0.0000;FS=1.787;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.35;ReadPosRankSum=-1.215e+00;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1485	20	0	1	0
chr2	237387870	237387870	C	T	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057165:exon3:c.G406A:p.V136M	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	.	0	1514	8	0	0	8	0.00263505	.	.	100801	Bethlem_myopathy_1A|not_provided|not_specified|COL6A3-related_disorder|Collagen_6-related_myopathy	MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MedGen:C3661900|MedGen:CN169374|.|MONDO:MONDO:0100225,MedGen:CN117976	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.999	D	0.94	D	0.018	U	0.936	N	1.845	L	-1.68	D	-0.297	T	0.504	D	0.356	2.204	13.33	5.17	2.405	1.665	6.726	0.271	0.132658850597	0.0006	0.000798722	0.0007	0.0002	0.0007	0.0003	0.0012	0.0009	0	0.0003	0.000718	111	154602	rs111402193	0.0006	0.0006	0.0006	0.0006	0.0140	0.0006	0.0006	0.0116	0.0107	0.0007	0.0011	0.0026	0.0002	0.0007	0.0140	0.0005	0.0009	0.0005	0.0008	0.0008	0.0007	0.0009	0.0040	0.0007	0.0006	0.0032	0.0029	0.0001	0	0.0040	0.0014	0	0.0013	0.0170	0.0004	0.0005	0.0012	0.059	0.38407	T	0.036	0.61642	D	0.999	0.77913	D	0.94	0.67560	D	0.018249	0.27526	U	0.169199	0.936	0.37133	D	2.045	0.56016	M	-1.68	0.82897	D	-0.58	0.25118	N	0.254	0.28732	-0.2973	0.75060	T	0.504	0.81320	D	10	0.013223261	0.00281	T	0.132659	0.81500	D	0.271	0.58633	.	.	0.810604063057	0.80882	0.28349017118580144	0.28262	0.62513862552	0.56697	0.433833181858	0.29733	T	0.271864	0.64422	T	-0.274477	0.11262	T	-0.223392	0.52408	T	0.0227698465535153	0.00997	T	0.89771	0.66351	D	0.04972746	0.08875	0.06005353	0.11374	0.049461026	0.08786	0.060145333	0.11405	-4.736	0.35611	T	.	.	0.107	0.37652	B	.;.;.;.;.;.	.;.;.;.;.;.	3.319845	0.45653	22.2	0.99659378707997359	0.77820	0.15977	0.19172	N	AEFBI	0.216180	0.34145	N	0.206430879554537	0.51510	3.331681	0.124960835640577	0.45830	2.839207	0.999996933667115	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.17	5.17	0.70848	1.699000	0.37423	3.313000	0.37480	0.599000	0.40250	0.005000	0.17040	0.098000	0.22634	0.951000	0.49849	0.0:0.7814:0.0:0.2186	6.726	0.22547	933	0.16026	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	1740.98	34	chr2	237387870	.	C	T	1740.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.48;DP=837;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=2.67;SOR=0.743	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1403	20	0	1	0
chr2	237511045	237511045	A	G	exonic	MLPH	.	nonsynonymous SNV	MLPH:NM_001042467:exon4:c.A389G:p.K130R	Griscelli syndrome, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.996	D	0.000	D	1.000	D	2	M	-1.09	T	0.162	D	0.574	D	0.431	4.821	27.3	4.98	1.872	6.743	13.869	0.602	0.0249046874356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	0.91255	T	0.072	0.92824	T	0.998	0.73220	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999801	0.49283	D	2.715	0.79425	M	-1.09	0.77206	T	-2.95	0.61580	D	0.174	0.45615	0.162	0.85267	D	0.574	0.84630	D	10	0.68432844	0.71469	D	0.024905	0.47894	T	0.602	0.84291	0.53	0.63707	0.840501159006	0.83897	0.40391468645847084	0.40307	0.20160109141	0.22562	0.451005518436	0.32081	T	0.073743	0.85220	T	0.0881452	0.62980	D	-0.111162	0.62518	T	0.987821161746979	0.78250	D	0.707729	0.58144	T	0.71190935	0.78712	0.7163205	0.83255	0.71190935	0.78713	0.7163205	0.83256	-10.062	0.74282	D	0.3699008321336623	0.46552	0.076	0.24901	B	.;.;.;.;.	.;.;.;.;.	3.264696	0.44665	22.0	0.9988227815012487	0.95813	0.93979	0.59750	D	AEFBHCIJ	0.922303	0.89707	D	0.620412136416174	0.74467	6.13765	0.583508292066533	0.73756	6.023102	0.999999999956831	0.74766	0.626454	0.40138	0	0.563428	0.19063	0	0.80507	0.99327	0	0.567339	0.31927	0	.	.	4.98	4.98	0.65679	6.774000	0.74807	5.798000	0.49917	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.777000	0.36790	1.0:0.0:0.0:0.0	13.869	0.63110	958	0.09170	Melanophilin, FYVE-related domain;.;Melanophilin, FYVE-related domain;Melanophilin, FYVE-related domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1575.98	45	chr2	237511045	.	A	G	1575.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.16;DP=971;ExcessHet=0.0000;FS=1.301;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.23;ReadPosRankSum=-1.678e+00;SOR=0.825	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr2	237567047	237567047	G	A	exonic	PRLH	.	nonsynonymous SNV	PRLH:NM_015893:exon2:c.G136A:p.G46R,	.	.	407	1114	1	0	0	1	0.000448632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.111	B	0.021	B	0.492	N	1.000	N	.	.	.	.	-1.062	T	0.065	T	0.229	-0.045	3.784	-2.21	-0.832	0.377	9.243	0.124	0.00265271257167	0.0002	0.000199681	0.0001	9.688e-05	8.654e-05	0	0	0.0002	0	0.0002	0.0001488	23	154602	rs147108124	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0002	0.0002	5.974e-05	0.0002	0	0	0	0.0007	0.0002	0.0001	0.0001	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	8.71e-05	0.0002	9.897e-05	0.0001	0	0	0	0	0	0	0.0002	0.0005	0.0006	0.17	0.22833	T	0.483	0.11795	T	0.111	0.26235	B	0.021	0.19346	B	0.491683	0.12050	N	0.641577	1	0.08975	N	.	.	.	.	.	.	-7.07	0.93903	D	0.352	0.39356	-1.0621	0.11239	T	0.065	0.26878	T	8	0.09968409	0.18106	T	0.002653	0.05406	T	0.124	0.34239	0.41	0.44559	0.110078149338	0.10416	0.6813342138349155	0.68072	0.0230896794622	0.02335	0.442553341389	0.30926	T	0.651674	0.89438	D	-0.385955	0.02856	T	-0.486197	0.23790	T	0.0474936254322529	0.05053	T	0.709329	0.31993	T	0.21887124	0.44405	0.2632389	0.52127	0.21887124	0.44405	0.2632389	0.52126	-4.287	0.27994	T	.	.	0.123	0.25785	B	.	.	0.729700	0.10990	7.650	0.85469860620698446	0.15912	0.08606	0.14512	N	AEFDBHCI	0.043997	0.07024	N	-1.13603581163418	0.06013	0.2756868	-1.22322889703217	0.05538	0.264164	0.0524654280899221	0.14907	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	4.27	-2.21	0.06581	0.589000	0.23640	0.171000	0.15519	-0.129000	0.13216	0.445000	0.26527	0.001000	0.17328	0.189000	0.21571	0.4448:0.0:0.5552:0.0	9.243	0.36672	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	648.98	35	chr2	237567047	.	G	A	648.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=822;ExcessHet=0.0000;FS=0.771;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.85;ReadPosRankSum=-6.000e-03;SOR=0.706	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1460	20	0	1	0
chr2	237708578	237708578	G	A	exonic	LRRFIP1	.	nonsynonymous SNV	LRRFIP1:NM_001137550:exon2:c.G131A:p.R44H	.	.	427	1094	1	0	0	1	0.00045683	.	.	1858950	Myoepithelial_tumor	MONDO:MONDO:0002380,MeSH:D009208,MedGen:C0027070	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.74	M	0.42	T	-0.192	T	0.384	T	0.87	3.799	19.29	5.64	2.657	7.403	15.201	0.412	0.115266904754	.	.	1.432e-05	0	0	0	0	2.381e-05	0	0	1.29e-05	2	154602	rs771561308	1.453e-05	1.984e-05	1.372e-05	1.536e-05	1.725e-05	9.34e-06	7.93e-06	1.103e-05	8.89e-06	0	0	0	0	0	0	1.725e-05	1.677e-05	1.191e-05	6.567e-06	6.566e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.003	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000090	0.51296	D	0.126917	0.941079	0.54805	D	2.585	0.75554	M	0.42	0.56937	T	-4.1	0.76655	D	0.839	0.83473	-0.1924	0.77867	T	0.384	0.74024	T	10	0.809391	0.80240	D	0.115267	0.79439	D	0.412	0.72328	0.482	0.56302	0.844948111825	0.84346	0.31685019921040747	0.31598	0.451617425996	0.44907	0.797100484371	0.81522	T	0.217935	0.58051	T	0.288311	0.82017	D	0.176363	0.81785	D	0.989191949367523	0.79445	D	0.999644	0.99868	D	0.16911082	0.37408	0.12635317	0.30432	0.16911082	0.37407	0.12635317	0.30431	-14.545	0.94693	D	.	.	0.995	0.95479	P	.;.;.;.;.	.;.;.;.;.	5.090131	0.84994	28.5	0.99921462370926495	0.98787	0.90609	0.51927	D	AEFDBCI	0.744158	0.68723	D	0.759589168611997	0.83528	8.041038	0.668483209346814	0.79992	7.201361	0.999999999994643	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	7.978000	0.87686	11.602000	0.93483	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.042000	0.14466	0.0:0.0:1.0:0.0	15.201	0.72826	988	0.01987	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1303.98	33	chr2	237708578	.	G	A	1303.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=786;ExcessHet=0.0000;FS=0.795;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.49;ReadPosRankSum=-4.850e-01;SOR=0.866	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1046	20	0	1	0
chr2	237749215	237749215	C	T	exonic	LRRFIP1	.	nonsynonymous SNV	LRRFIP1:NM_001137551:exon4:c.C206T:p.P69L	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.988	D	0.000	D	1.000	D	1.59	L	0.82	T	-0.601	T	0.266	T	0.808	4.671	25.8	5.52	2.581	5.474	18.447	0.251	0.0678025796796	.	0.00159744	0.0008	0	0.0002	0	0	3.061e-05	0	0.0059	0.0006921	107	154602	rs560891479	0.0004	0.0004	0.0002	0.0006	0.0062	0.0004	0.0004	0.0058	0.0056	0	2.237e-05	0	2.519e-05	0	0.0002	1.439e-05	0.0004	0.0062	0.0003	0.0003	0.0002	0.0004	0.0077	0.0002	0.0002	0.0058	0.0051	4.818e-05	0	0.0001	0	0	0	0	2.942e-05	0	0.0077	0.022	0.78490	D	0.204	0.76473	T	1.0	0.90584	D	0.979	0.77976	D	0.000282	0.46274	D	0.197364	0.999977	0.58761	D	2.28	0.64929	M	0.82	0.48142	T	-4.39	0.83092	D	0.474	0.60241	-0.6012	0.64767	T	0.266	0.63727	T	10	0.007073909	0.00161	T	0.067803	0.70271	D	0.251	0.56024	.	.	0.649787542483	0.64687	0.33614060920247174	0.33527	0.411689779384	0.41920	0.593770384789	0.52026	T	0.101474	0.40826	T	-0.189737	0.22297	T	-0.0431241	0.67491	D	0.178823596370896	0.19161	T	0.889011	0.64163	D	0.3414556	0.56395	0.42803988	0.66530	0.3414556	0.56395	0.42803988	0.66530	-12.606	0.87677	D	.	.	0.161	0.51840	B	.;.;.;.;.	.;.;.;.;.	5.295701	0.88915	29.8	0.9985027976895714	0.92925	0.99267	0.93693	D	AEFBI	0.665147	0.63407	D	0.605130900487045	0.73499	5.976009	0.602571371128348	0.75127	6.255799	0.999999999987454	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	5.600000	0.67286	7.585000	0.61076	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.576000	0.30797	0.0:1.0:0.0:0.0	18.447	0.90633	986	0.02773	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	513.98	41	chr2	237749215	.	C	T	513.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.455;DP=786;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.24;ReadPosRankSum=6.000e-03;SOR=0.684	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1231	20	0	1	0
chr2	237763265	237763265	G	C	exonic	LRRFIP1	.	nonsynonymous SNV	LRRFIP1:NM_001137553:exon8:c.G1384C:p.V462L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.103	B	0.058	B	0.000	N	1.000	N	0.805	L	2.47	T	-1.022	T	0.031	T	0.145	0.645	7.461	0.893	0.782	0.662	5.113	0.132	0.00416971337276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.68238	D	0.11	0.38016	T	0.058	0.25884	B	0.04	0.26451	B	0.000000	0.00162	N	8.524060	1	0.08975	N	0.55	0.14455	N	2.43	0.15261	T	-0.53	0.16393	N	0.029	0.01577	-1.0215	0.23227	T	0.031	0.13461	T	10	0.045998752	0.03736	T	0.00417	0.10026	T	0.132	0.35948	0.055	0.00145	0.243972157842	0.24002	0.008966416936301227	0.00859	0.0678921791681	0.07604	0.270930975676	0.06263	T	0.00423	0.03640	T	-0.278936	0.10781	T	-0.638449	0.09783	T	0.0945349022392884	0.11744	T	0.632737	0.24712	T	0.19365129	0.41084	0.109754354	0.26457	0.19365129	0.41084	0.109754354	0.26456	-3.598	0.18263	T	.	.	0.195	0.45236	B	.;.;.	.;.;.	1.193915	0.15853	12.15	0.88867264072616592	0.18320	0.24685	0.22470	N	AEFBI	0.080967	0.16377	N	-1.0006390569882	0.08590	0.4033749	-1.10606014460812	0.07584	0.3694582	0.814912829825727	0.24421	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	0.893	0.893	0.18369	-0.122000	0.10602	-5.915000	0.01554	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.0:1.0:0.0	5.113	0.14153	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1388.98	35	chr2	237763265	.	G	C	1388.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=1142;ExcessHet=0.0000;FS=0.701;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=0.742;SOR=0.586	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	20	0	1	0
chr2	237829503	237829503	G	A	splicing	RBM44	NM_001080504:exon13:c.2886+1G>A	.	.	.	.	432	1087	3	0	0	3	0.00137804	1.0000	0.74	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.049	9.283	4.37	2.138	4.264	12.802	.	.	.	.	8.693e-06	0	0	0	0	0	0	7.084e-05	6.5e-06	1	154602	rs752073129	2.064e-06	2.052e-06	1.368e-06	2.767e-06	2.356e-05	5.5e-07	1.5e-07	3.91e-06	1.46e-06	0	0	0	0	0	0	0	1.669e-05	2.356e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053832	0.58835	T	-0.057507	0.66506	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.937596	0.81456	27.6	0.98563371276581047	0.43012	0.88797	0.48900	D	AEFI	.	.	.	0.840581064304605	0.88565	9.626404	0.608889785560796	0.75585	6.336499	0.9460824412164	0.27690	0.078448	0.01964	0	0.097471	0.02872	0	0.060301	0.00762	0	0.057018	0.00518	0	0.942246	0.60427	4.37	4.37	0.51830	4.305000	0.58905	11.398000	0.92662	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.144000	0.20092	0.0:0.0:1.0:0.0	12.802	0.56974	982	0.03397	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	666.98	35	chr2	237829503	.	G	A	666.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=771;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.66;ReadPosRankSum=0.408;SOR=0.608	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1157	20	0	1	0
chr2	238061070	238061070	G	A	exonic	SCLY	.	nonsynonymous SNV	SCLY:NM_016510:exon1:c.G16A:p.A6T,	.	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.608	P	0.136	B	0.001	N	1.000	N	0	N	1.92	T	-1.018	T	0.025	T	0.29	1.757	11.83	0.061	0.010	0.249	3.282	0.011	.	.	0.00439297	0	0	.	.	.	0	.	0	0.0005498	85	154602	rs147010013	0.0070	0.0065	0.0069	0.0071	0.0081	0.0069	0.0068	0.0071	0.0071	0.0005	0.0072	0.0294	0.0001	0.0034	0.0081	0.0073	0.0072	0.0032	0.0060	0.0060	0.0058	0.0061	0.0106	0.0056	0.0055	0.0093	0.0087	0.0012	0	0.0106	0.0326	0.0002	0.0056	0.0034	0.0072	0.0076	0.0037	0.038	0.45393	D	0.487	0.30828	T	0.275	0.31898	B	0.136	0.33270	B	0.001286	0.00765	N	13.221200	1	0.08975	N	0	0.06538	N	1.9	0.31987	T	-0.27	0.11366	N	0.129	0.12341	-1.0183	0.24269	T	0.025	0.10733	T	10	0.0033251941	0.00057	T	.	.	.	0.043	0.11576	.	.	.	.	.	.	0.0754706685885	0.08464	0.612418651581	0.54658	T	.	.	.	-0.532072	0.00373	T	-0.527666	0.19521	T	0.0161218824820442	0.00389	T	0.648535	0.25952	T	.	.	.	.	.	.	.	.	-5.422	0.41130	T	.	.	0.135	0.29422	B	.;.;.	.;.;.	1.569317	0.20094	14.59	0.97398563485347733	0.33760	0.12284	0.17174	N	AEFGBHCIJ	0.033158	0.03879	N	-0.859386031030996	0.11819	0.5725303	-1.01280310145924	0.09503	0.4731744	0.999999999908548	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	2.12	0.061	0.13653	0.285000	0.18642	2.227000	0.31499	0.611000	0.49015	0.000000	0.06391	0.262000	0.23990	0.004000	0.06068	0.1769:0.2771:0.5459:0.0	3.282	0.06511	964	0.07719	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	84.98	33	chr2	238061070	.	G	A	84.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.240e-01;DP=556;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.67;ReadPosRankSum=0.429;SOR=0.941	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr2	238104697	238104697	A	C	exonic	ESPNL	.	nonsynonymous SNV	ESPNL:NM_194312:exon3:c.A527C:p.Y176S,	.	.	412	1101	9	0	0	9	0.00407056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.111	B	0.045	B	0.001	D	1.000	D	0.74	N	-0.03	T	-0.946	T	0.113	T	0.803	4.459	23.8	4.69	1.747	8.359	13.102	0.401	0.189864831079	0.0028	0.00159744	0.0032	0.0004	0.0014	0	0.0033	0.0049	0.0026	0.0012	0.0028719	444	154602	rs111369122	0.0033	0.0033	0.0033	0.0032	0.0038	0.0032	0.0032	0.0037	0.0036	0.0005	0.0013	7.704e-05	0	0.0044	0.0016	0.0038	0.0028	0.0013	0.0024	0.0024	0.0025	0.0023	0.0037	0.0022	0.0021	0.0033	0.0032	0.0008	0.0175	0.0016	0	0	0.0029	0.0034	0.0037	0.0019	0.0006	0.033	0.46910	D	0.007	0.69154	D	0.111	0.26235	B	0.045	0.24526	B	0.000761	0.42006	D	0.098369	0.999228	0.46379	D	0.99	0.25021	L	-0.03	0.63077	T	-7.29	0.94457	D	0.786	0.78262	-0.9457	0.41698	T	0.113	0.40399	T	10	0.017033726	0.00361	T	0.189865	0.86089	D	0.401	0.71479	.	.	0.360163838653	0.35632	0.7471954668618922	0.74665	0.562505004797	0.52722	0.755816459656	0.75308	T	0.035369	0.23691	T	-0.182558	0.23355	T	-0.0346043	0.68062	D	0.0412624943340114	0.03920	T	0.944805	0.82790	D	0.73347294	0.79920	0.81662285	0.89323	0.73347294	0.79922	0.81662285	0.89323	-13.802	0.93114	D	.	.	0.845	0.80167	P	.;.	.;.	4.509423	0.70607	25.5	0.9905279305993393	0.51298	0.98424	0.82634	D	AEFDBI	0.879265	0.80510	D	-0.0215084827720469	0.40883	2.435636	0.150628949575639	0.47176	2.951703	0.999999998890278	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.69	4.69	0.58546	6.805000	0.74979	10.667000	0.83547	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	13.102	0.58639	970	0.06235	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	365.98	35	chr2	238104697	.	A	C	365.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=750;ExcessHet=0.0000;FS=4.777;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.32;ReadPosRankSum=-6.440e-01;SOR=1.591	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr2	238104792	238104792	G	T	exonic	ESPNL	.	nonsynonymous SNV	ESPNL:NM_194312:exon3:c.G622T:p.A208S,	.	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.058	B	0.015	B	0.665	N	1.000	N	2.555	M	0.34	T	-0.973	T	0.192	T	0.502	0.163	4.879	0.466	0.026	0.299	4.734	0.214	0.096705560235	.	.	7.798e-05	0	0	0	0	0.0001	0	0	2.59e-05	4	154602	rs147264039	5.611e-05	6.156e-05	3.894e-05	7.358e-05	0.0019	4.59e-05	4.252e-05	0.0010	0.0007	3.077e-05	2.452e-05	0	0	0	0.0019	6.114e-05	3.394e-05	0	3.285e-05	3.283e-05	3.854e-05	2.689e-05	6.541e-05	1.261e-05	7.98e-06	7.99e-06	2.99e-06	4.824e-05	0	6.541e-05	0	0	0	0	2.94e-05	0	0	0.447	0.09075	T	0.427	0.14412	T	0.058	0.22967	B	0.015	0.17295	B	0.664932	0.06002	N	1.209900	1	0.08975	N	1.15	0.29295	L	0.34	0.58613	T	-0.61	0.18042	N	0.346	0.41459	-0.9730	0.36562	T	0.192	0.54389	T	10	0.19344032	0.35114	T	0.096706	0.76649	D	0.214	0.50650	0.735	0.86806	0.0762999501168	0.06990	0.22303823558015012	0.22218	0.129197832396	0.14567	0.545440077782	0.45214	T	0.004899	0.04322	T	-0.249216	0.14195	T	-0.380423	0.35672	T	0.0132685363304679	0.00237	T	0.647735	0.27458	T	0.09634939	0.22691	0.06429636	0.12864	0.09634939	0.22691	0.06429636	0.12864	-7.378	0.56750	T	.	.	0.156	0.44669	B	.;.	.;.	0.798086	0.11688	8.268	0.9093328550477916	0.20182	0.05126	0.10933	N	AEFDBI	0.062500	0.12019	N	-0.67430289244163	0.16756	0.8565039	-0.72574218351996	0.16321	0.8628196	0.99839218029437	0.36888	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.8	0.466	0.15928	0.397000	0.20608	1.839000	0.29174	0.676000	0.76740	0.000000	0.06391	0.012000	0.20211	0.135000	0.19760	0.0843:0.4019:0.3677:0.1461	4.734	0.12357	970	0.06235	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1580.98	35	chr2	238104792	.	G	T	1580.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=844;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.80;ReadPosRankSum=0.216;SOR=0.704	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr2	238130392	238130392	G	A	exonic	ESPNL	.	nonsynonymous SNV	ESPNL:NM_001308370:exon4:c.G574A:p.G192R	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.016	B	0.016	B	0.820	N	1.000	N	1.7	L	1.04	T	-0.994	T	0.097	T	0.472	-0.678	1.044	2.05	0.158	0.582	5.106	0.131	0.0693573402986	0.0007	0.00159744	0.0007	0.0038	0.0001	0.0029	0	0.0002	0	0.0010	0.0005627	87	154602	rs145074139	0.0002	0.0002	0.0002	0.0002	0.0028	0.0002	0.0002	0.0023	0.0021	0.0028	0.0002	0	0.0008	0	0	4.68e-05	0.0005	0.0006	0.0008	0.0008	0.0008	0.0008	0.0025	0.0007	0.0006	0.0018	0.0017	0.0022	0	0.0003	0	0.0025	0	0	2.941e-05	0.0014	0.0006	0.196	0.20683	T	0.395	0.18617	T	0.009	0.17332	B	0.007	0.17743	B	0.819610	0.09188	N	0.878539	1	0.08975	N	1.335	0.33326	L	-0.05	0.63403	T	-2.3	0.51157	N	0.058	0.15888	-0.9937	0.31643	T	0.097	0.36341	T	10	0.0038446784	0.00073	T	0.069357	0.70706	D	0.131	0.35738	0.226	0.15109	0.149567049428	0.14543	0.08051695251524227	0.07986	0.153672317114	0.17337	0.531638860703	0.43265	T	0.003771	0.03181	T	-0.417466	0.01776	T	-0.371622	0.36700	T	0.00308815792051086	0.00032	T	0.635136	0.24942	T	0.044621535	0.07163	0.09384508	0.22185	0.044621535	0.07162	0.09384508	0.22185	-4.823	0.34858	T	.	.	0.131	0.29311	B	.;.;.	.;.;.	0.511841	0.08805	5.585	0.78534550850602469	0.12342	0.09500	0.15242	N	AEFBI	0.114676	0.22577	N	-1.09530028795792	0.06729	0.3106143	-1.14816182804525	0.06801	0.3286075	0.368077773525818	0.19843	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.9	2.05	0.25860	0.488000	0.22080	-0.080000	0.12189	-0.949000	0.02041	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1961:0.1722:0.6316:0.0	5.106	0.14117	969	0.06854	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1187.98	40	chr2	238130392	.	G	A	1187.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.75;DP=929;ExcessHet=0.0000;FS=12.609;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.48;ReadPosRankSum=-1.232e+00;SOR=2.252	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:70,0:70:99:.:.:0,120,1800	20	0	1	0
chr2	238130627	238130627	G	A	exonic	ESPNL	.	nonsynonymous SNV	ESPNL:NM_001308370:exon4:c.G809A:p.R270Q	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.824	P	0.086	B	0.012	N	0.954	N	1.845	L	0.87	T	-0.838	T	0.172	T	0.159	2.006	12.66	3.01	0.540	2.740	7.787	0.077	0.0657890379684	.	.	.	.	.	.	.	.	.	.	.	.	.	rs947721839	1.773e-05	1.915e-05	1.122e-05	2.439e-05	5.405e-05	1.217e-05	1.028e-05	1.119e-05	9.02e-06	0	2.697e-05	0	5.405e-05	0	0	1.75e-05	1.71e-05	2.486e-05	3.943e-05	3.94e-05	5.139e-05	2.69e-05	0.0003	1.715e-05	1.129e-05	0.0001	8.283e-05	0	0	0.0003	0	0	0	0	1.471e-05	0	0	0.009	0.59928	D	0.182	0.29540	T	0.73	0.45836	P	0.04	0.29521	B	0.011541	0.29496	N	0.261990	0.965156	0.26402	N	2.07	0.56829	M	-0.24	0.66834	T	-1.71	0.44657	N	0.058	0.04790	-0.8375	0.52812	T	0.172	0.51484	T	10	0.10705948	0.19867	T	0.065789	0.69684	D	0.077	0.22490	.	.	0.165133752707	0.16062	0.34538022969149057	0.34452	0.150010058639	0.16919	0.341031819582	0.16593	T	0.032108	0.22343	T	-0.061901	0.42609	T	-0.326693	0.41837	T	0.310074150562286	0.25417	T	0.653735	0.26383	T	0.11150636	0.26351	0.1562377	0.36589	0.11150636	0.26350	0.1562377	0.36588	-3.477	0.18803	T	.	.	0.077	0.09288	B	.;.;.	.;.;.	1.159456	0.15481	11.88	0.99625630270561771	0.75716	0.49490	0.28445	N	AEFDBI	0.377695	0.46137	N	-0.407265961646257	0.25215	1.367113	-0.50763724129869	0.21945	1.189599	0.999741143103389	0.42466	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.98	3.01	0.33872	1.979000	0.40231	1.094000	0.24007	0.614000	0.49286	0.024000	0.20007	0.000000	0.08366	0.002000	0.04165	0.1393:0.0:0.8607:0.0	7.787	0.28263	969	0.06854	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	837.98	37	chr2	238130627	.	G	A	837.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.414;DP=900;ExcessHet=0.0000;FS=0.919;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.80;ReadPosRankSum=1.42;SOR=0.531	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1105	20	0	1	0
chr2	238131092	238131092	G	A	exonic	ESPNL	.	nonsynonymous SNV	ESPNL:NM_001308370:exon4:c.G1274A:p.R425Q	.	.	430	1090	2	0	0	2	0.00091659	.	.	2334550	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	0.976	D	0.444	B	0.076	N	0.903	N	1.61	L	1.0	T	-0.832	T	0.182	T	0.522	3.026	16.09	2.78	2.123	0.206	8.632	0.140	0.394635057999	.	.	9.126e-05	0	0	0	.	0	0	0.0001	0.0001358	21	154602	rs776634470	4.893e-05	5.199e-05	5.111e-05	4.669e-05	0.0012	3.921e-05	3.588e-05	0.0009	0.0008	0	0.0012	0	0	0	0	1.67e-05	1.733e-05	0.0001	0.0001	0.0001	0.0001	0.0001	0.0011	8.667e-05	7.259e-05	0.0007	0.0006	0	0	0.0011	0	0	0	0	4.41e-05	0	0	0.082	0.33254	T	0.025	0.57104	D	0.959	0.58310	D	0.259	0.45865	B	0.076030	0.21187	N	0.374482	0.902749	0.27668	N	1.445	0.36358	L	-0.08	0.63911	T	-1.2	0.33598	N	0.192	0.22486	-0.8316	0.53198	T	0.182	0.53026	T	10	0.10717672	0.19895	T	0.394635	0.93265	D	0.140	0.37593	.	.	0.17948927462	0.17512	0.26299384547681975	0.26212	0.143774741712	0.16234	0.732445120811	0.71864	T	0.007645	0.07043	T	-0.339305	0.05436	T	-0.33687	0.40700	T	0.0904519241937972	0.11272	T	0.712229	0.32360	T	0.047864605	0.08251	0.0676554	0.14024	0.047864605	0.08251	0.0676554	0.14024	-4.524	0.32008	T	.	.	0.09	0.16713	B	.;.;.	.;.;.	1.712836	0.21810	15.36	0.99865430453994308	0.94366	0.05763	0.11694	N	AEFDBI	0.055229	0.10109	N	-0.00742268477400036	0.41518	2.48486	-0.0484004872628522	0.37559	2.200808	0.98598064959254	0.30984	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	4.63	2.78	0.31702	-0.086000	0.11198	1.578000	0.27457	-0.174000	0.10959	0.000000	0.06391	0.925000	0.28409	0.426000	0.27362	0.1696:0.0:0.8304:0.0	8.632	0.33085	969	0.06854	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	603.98	36	chr2	238131092	.	G	A	603.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.264;DP=947;ExcessHet=0.0000;FS=2.316;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=-5.870e-01;SOR=0.818	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1424	20	0	1	0
chr2	238131677	238131677	G	A	exonic	ESPNL	.	nonsynonymous SNV	ESPNL:NM_001308370:exon4:c.G1859A:p.R620H	.	.	422	1097	2	0	1	3	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.125	M	-0.42	T	0.443	D	0.656	D	0.43	4.001	20.5	4.72	2.176	9.726	16.476	0.642	0.152753261285	7.7e-05	0.000199681	0.0002	9.841e-05	0.0002	0	0	0	0.0022	0.0015	0.000194	30	154602	rs140603175	9.949e-05	0.0001	4.38e-05	0.0002	0.0013	8.596e-05	8.061e-05	0.0011	0.0011	3.013e-05	0.0001	0	2.548e-05	0	0.0003	1.09e-05	0.0001	0.0013	7.876e-05	7.873e-05	5.138e-05	0.0001	0.0012	4.492e-05	3.509e-05	0.0005	0.0004	4.81e-05	0	0.0003	0	0	0	0	0	0	0.0012	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.92359	D	0.000011	0.62929	D	0.000000	0.999976	0.58761	D	2.825	0.82220	M	-1.45	0.80899	T	-3.0	0.67241	D	0.723	0.74553	0.443	0.89724	D	0.656	0.88050	D	10	0.17788279	0.32845	T	0.152753	0.83412	D	0.642	0.86384	.	.	0.733189494507	0.73081	0.7388720057536484	0.73832	0.630159940623	0.57018	0.647831737995	0.59678	T	0.311841	0.68371	T	-0.180784	0.23619	T	-0.0625393	0.66155	T	0.236559333778904	0.22260	T	0.921908	0.73102	D	0.5563563	0.70308	0.39617217	0.64266	0.5563563	0.70309	0.39617217	0.64266	-10.252	0.75530	D	.	.	0.178	0.42520	B	.;.;.	.;.;.	5.093679	0.85075	28.5	0.99942358219935168	0.99824	0.99017	0.90015	D	AEFDBI	0.929554	0.91547	D	0.708496812506163	0.80189	7.239556	0.639040313635221	0.77797	6.749089	0.999999999994983	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.72	4.72	0.59248	8.039000	0.89191	9.663000	0.81199	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.848000	0.40082	0.0:0.0:1.0:0.0	16.476	0.83976	969	0.06854	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1142.98	39	chr2	238131677	.	G	A	1142.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.057;DP=1150;ExcessHet=0.0000;FS=2.707;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=0.138;SOR=0.690	GT:AD:DP:GQ:PL	0/1:46,47:93:99:1157,0,1091	20	0	1	0
chr2	238164320	238164320	C	T	exonic	ERFE	.	nonsynonymous SNV	ERFE:NM_001291832:exon6:c.C847T:p.R283C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.036	N	1.000	D	1.755	L	0.93	T	-0.874	T	0.158	T	0.623	2.472	14.22	3.52	0.832	5.706	11.364	0.301	0.308395710082	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1242808103	6.514e-06	1.094e-05	7.145e-06	5.866e-06	7.44e-06	3.07e-06	2.22e-06	3.2e-06	2.31e-06	0	0	0	0	0	0	7.44e-06	1.741e-05	0	1.971e-05	1.97e-05	2.569e-05	1.345e-05	4.823e-05	5.24e-06	2.45e-06	7.99e-06	2.99e-06	4.823e-05	0	0	0	0	0	0	1.47e-05	0	0	0.043	0.41364	D	0.011	0.64786	D	.	.	.	.	.	.	0.035946	0.24582	N	0.353536	0.999841	0.49770	D	.	.	.	0.93	0.44065	T	-6.51	0.91653	D	0.619	0.63459	-0.8736	0.50257	T	0.158	0.49178	T	8	0.73059887	0.74271	D	0.308396	0.91107	D	0.301	0.62179	0.561	0.68093	0.623049244626	0.61998	0.45652942995381224	0.45570	.	.	.	.	.	0.383283	0.74517	T	-0.030352	0.47366	T	-0.281375	0.46664	T	0.904633343219757	0.55815	D	0.756924	0.38041	T	0.32840264	0.55340	0.2911088	0.55135	0.32840264	0.55340	0.2911088	0.55134	-11.485	0.82251	D	.	.	0.495	0.64352	A	.	.	5.307898	0.89104	29.9	0.9949370148317831	0.67630	0.93164	0.57492	D	AEFDBCI	0.753966	0.69399	D	-0.190312755762293	0.33537	1.903772	-0.259910885317387	0.29431	1.648838	0.9999979966686	0.74766	0.676563	0.55306	0	0.59043	0.45803	0	0.673471	0.61138	0	0.63947	0.58350	0	.	.	4.4	3.52	0.39415	3.619000	0.53937	5.490000	0.48745	-0.221000	0.07976	1.000000	0.71638	1.000000	0.68203	0.002000	0.04165	0.0:0.9085:0.0:0.0915	11.364	0.48898	969	0.06854	C1q domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	533.98	33	chr2	238164320	.	C	T	533.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.86;DP=793;ExcessHet=0.0000;FS=1.236;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=0.155;SOR=0.818	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,114,1223	20	0	1	0
chr2	238246431	238246431	T	C	exonic	PER2	.	nonsynonymous SNV	PER2:NM_022817:exon23:c.A3712G:p.T1238A,	Advanced sleep phase syndrome, familial, 1, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.93	T	0.001	B	0.002	B	0.033	N	1.000	N	0.755	N	2.96	T	-0.974	T	0.020	T	0.146	1.835	12.09	2.55	0.339	-1.349	5.991	0.034	0.00477956956257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	0	1.377e-06	1.161e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.435	0.09401	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.06944	B	0.033097	0.01764	N	2.048480	1	0.18612	N	1.04	0.26193	L	2.96	0.09542	T	-0.28	0.11547	N	0.044	0.01658	-0.9743	0.36279	T	0.020	0.08360	T	10	0.0329462	0.01458	T	0.00478	0.11941	T	0.034	0.08419	0.131	0.03577	0.246926113748	0.24311	0.16203153385114444	0.16124	0.214331367587	0.23966	0.249666959047	0.03733	T	0.039015	0.25043	T	-0.322966	0.06657	T	-0.701695	0.05734	T	0.0606949403882027	0.07277	T	0.374163	0.08891	T	0.01923962	0.00452	0.02396316	0.00411	0.01923962	0.00451	0.02396316	0.00411	-3.608	0.17973	T	.	.	0.067	0.02399	B	.	.	0.629347	0.09980	6.733	0.72882858563331099	0.10129	0.05107	0.10909	N	AEFBI	0.038901	0.05572	N	-1.03361488444375	0.07912	0.3692231	-0.986361485215773	0.10091	0.5060726	0.999844565443412	0.43971	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.91	2.55	0.29757	-1.465000	0.02463	-0.794000	0.07402	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.287000	0.24188	0.0:0.217:0.0:0.783	5.991	0.18695	851	0.35303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	908.98	42	chr2	238246431	.	T	C	908.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.700e-01;DP=813;ExcessHet=0.0000;FS=1.975;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.99;ReadPosRankSum=0.185;SOR=0.574	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1105	20	0	1	0
chr2	238252955	238252955	T	A	exonic	PER2	.	nonsynonymous SNV	PER2:NM_022817:exon19:c.A3068T:p.K1023I,	Advanced sleep phase syndrome, familial, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.883	P	0.231	B	0.043	N	0.994	N	1.995	M	2.72	T	-1.014	T	0.034	T	0.159	3.336	17.23	1.94	0.296	0.296	1.388	0.053	0.00523738519651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.26085	T	0.15	0.32461	T	0.883	0.48537	P	0.231	0.38266	B	0.042858	0.01911	N	1.864420	1	0.23527	N	0.805	0.20218	L	2.72	0.11947	T	-2.35	0.51968	N	0.275	0.31140	-1.0139	0.25688	T	0.034	0.14464	T	10	0.12195912	0.23128	T	0.005237	0.13371	T	0.053	0.14996	0.316	0.29258	0.117191471859	0.11215	0.1903503028925259	0.18953	0.524690946668	0.50151	0.378096103668	0.21985	T	0.27506	0.64758	T	-0.26876	0.11895	T	-0.623831	0.10886	T	0.363056719303131	0.27529	T	0.541746	0.18406	T	0.071191944	0.15742	0.06861328	0.14350	0.071191944	0.15741	0.06861328	0.14350	-4.167	0.26272	T	.	.	0.138	0.30238	B	.	.	2.228541	0.28446	17.80	0.98761827892513765	0.45831	0.10969	0.16318	N	AEFDBCI	0.046471	0.07720	N	-0.323464592393238	0.28259	1.557211	-0.43852289009945	0.23876	1.304384	0.993483661507276	0.33233	0.615465	0.37627	0	0.577304	0.33150	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.24	1.94	0.25058	0.384000	0.20396	-0.333000	0.09875	0.665000	0.62972	0.012000	0.18695	0.000000	0.08366	0.932000	0.46971	0.1563:0.1089:0.2368:0.4981	1.388	0.02110	835	0.38313	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1582.98	36	chr2	238252955	.	T	A	1582.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.314e+00;DP=853;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=-8.540e-01;SOR=0.699	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1175	20	0	1	0
chr2	238253003	238253003	A	G	exonic	PER2	.	nonsynonymous SNV	PER2:NM_022817:exon19:c.T3020C:p.M1007T,	Advanced sleep phase syndrome, familial, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.0	B	0.0	B	0.605	N	1.000	N	-1.905	N	2.98	T	-0.939	T	0.005	T	0.036	-1.444	0.020	-0.436	-0.219	-0.450	1.083	0.023	0.000759820551602	7.7e-05	0.00139776	0.0006	0	0	0.0064	0	9.025e-05	0	0.0007	0.0005821	90	154602	rs150509214	0.0003	0.0003	0.0003	0.0003	0.0061	0.0002	0.0002	0.0055	0.0053	0	2.236e-05	0.0013	0.0061	0	0	8.094e-06	0.0007	0.0006	0.0003	0.0003	0.0003	0.0004	0.0075	0.0002	0.0002	0.0057	0.0050	0	0	0	0.0009	0.0075	0	0	1.471e-05	0	0.0012	0.658	0.04728	T	0.724	0.05274	T	0.0	0.02946	B	0.0	0.01387	B	0.604808	0.10923	N	0.818521	1	0.08975	N	-0.55	0.02420	N	2.98	0.09356	T	1.08	0.01263	N	0.024	0.00445	-0.9392	0.42743	T	0.005	0.01725	T	10	0.0026144385	0.00040	T	7.6E-4	0.00549	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.12623111326722666	0.12549	0.251633585946	0.27744	0.348521530628	0.17704	T	0.043628	0.26563	T	-0.770186	0.00013	T	-0.8697	0.00745	T	0.01483409283334	0.00313	T	0.161484	0.01457	T	0.042563498	0.06477	0.054294612	0.09312	0.042563498	0.06477	0.054294612	0.09311	-0.52	0.00595	T	.	.	0.050	0.00130	B	.	.	-0.841905	0.01027	0.043	0.34120210243762195	0.02070	0.01228	0.04347	N	AEFBCI	0.014906	0.00257	N	-1.75068716075572	0.00677	0.02921993	-1.67450020237641	0.01254	0.05653907	0.990559441672138	0.32192	0.615465	0.37627	0	0.379588	0.06130	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	3.85	-0.436	0.11663	-0.659000	0.05423	-0.006000	0.13130	-1.293000	0.01252	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2976:0.1514:0.3971:0.1539	1.083	0.01544	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1828.98	36	chr2	238253003	.	A	G	1828.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.782e+00;DP=867;ExcessHet=0.0000;FS=0.609;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=-6.550e-01;SOR=0.611	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1175	20	0	1	0
chr2	238257038	238257038	T	G	exonic	PER2	.	nonsynonymous SNV	PER2:NM_022817:exon17:c.A1949C:p.H650P,	Advanced sleep phase syndrome, familial, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.94	P	0.36	B	0.314	N	0.892	N	1.005	L	3.0	T	-1.026	T	0.018	T	0.5	2.538	14.45	-3.78	-0.961	0.535	11.037	0.148	0.0076072627612	.	.	8.253e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs201312988	5.475e-06	5.472e-06	9.534e-06	1.376e-06	0.0002	2.36e-06	1.7e-06	1.779e-05	8.93e-06	0	6.709e-05	0	0	0	0.0002	1.799e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	0.15406	T	0.196	0.27943	T	0.0	0.02946	B	0.001	0.04355	B	0.313592	0.14391	N	0.719811	1	0.27865	N	0.475	0.13142	N	3.0	0.09167	T	-0.19	0.09965	N	0.122	0.11340	-1.0257	0.21853	T	0.018	0.07659	T	10	0.10763049	0.20001	T	0.007607	0.20192	T	0.148	0.39182	0.193	0.10437	0.24933006939	0.24537	0.1763496502005765	0.17553	0.340575943944	0.35999	0.317812919617	0.13090	T	0.049748	0.28396	T	-0.326949	0.06345	T	-0.510444	0.21270	T	0.303968101739883	0.25167	T	0.59944	0.22338	T	0.06068751	0.12481	0.087685235	0.20398	0.06068751	0.12481	0.087685235	0.20397	-0.725	0.00741	T	.	.	0.073	0.04477	B	.	.	-0.163258	0.03284	0.564	0.76959928377731324	0.11679	0.70323	0.34543	D	AEFDBHCI	0.170991	0.29793	N	-0.92967414318661	0.10153	0.4838237	-1.0060528598292	0.09651	0.4814247	0.999970411798022	0.50053	0.562547	0.31514	0	0.653731	0.59785	0	0.596874	0.31795	0	0.638833	0.57524	0	.	.	4.75	-3.78	0.04049	0.641000	0.24411	-2.649000	0.03508	-0.133000	0.13014	0.998000	0.41325	0.000000	0.08366	0.014000	0.10232	0.0:0.4806:0.0:0.5194	11.037	0.47023	862	0.33134	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1094.98	91	chr2	238257038	.	T	G	1094.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.550;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=0.441;SOR=0.646	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1339	20	0	1	0
chr2	240011654	240011654	C	T	exonic	NDUFA10	.	nonsynonymous SNV	NDUFA10:NM_001322019:exon6:c.G712A:p.E238K	Leigh syndrome, Autosomal recessive, Mitochondrial	.	0	1488	33	1	0	35	0.011624	.	.	142140	Leigh_syndrome|not_provided|Mitochondrial_complex_1_deficiency,_nuclear_type_22|not_specified|Mitochondrial_complex_I_deficiency,_nuclear_type_1	MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:506|MedGen:C3661900|MONDO:MONDO:0032626,MedGen:C4748796,OMIM:618243|MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.994	D	0.000	D	1.000	D	2.865	M	-3.37	D	0.909	D	0.939	D	0.902	4.882	28.0	4.22	2.089	6.313	14.478	0.944	.	0.0054	0.00279553	0.0054	0.0002	0.0090	0.0001	0.0009	0.0070	0.0055	0.0039	0.0055562	859	154602	rs35462421	0.0064	0.0065	0.0064	0.0064	0.0089	0.0063	0.0063	0.0082	0.0079	0.0007	0.0089	0.0049	2.519e-05	0.0013	0.0078	0.0071	0.0075	0.0042	0.0057	0.0057	0.0061	0.0053	0.0094	0.0054	0.0053	0.0084	0.0081	0.0013	0	0.0094	0.0046	0	0.0003	0.0068	0.0090	0.0085	0.0046	0.004	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.255	0.89877	M	-4.65	0.97938	D	-3.44	0.71997	D	0.85	0.85132	0.909	0.95808	D	0.939	0.97992	D	10	0.015003979	0.00339	T	.	.	.	0.944	0.98851	.	.	0.998418483434	0.99840	0.686272988779664	0.68567	0.675064112378	0.59680	0.497707843781	0.38508	T	0.635256	0.88747	D	0.201883	0.74068	D	0.524463	0.95107	D	0.0317793008590996	0.02271	T	.	.	.	0.8467275	0.87094	0.7498531	0.85214	0.8685694	0.88750	0.7033316	0.82516	-11.085	0.80122	D	0.7238999482498457	0.80517	0.933	0.85307	P	.;.;.;.;.;.	.;.;.;.;.;.	5.074703	0.84663	28.4	0.99931280116912635	0.99387	0.95946	0.66841	D	AEFDBCI	0.680303	0.64404	D	0.777496287506538	0.84680	8.355947	0.687277347417095	0.81413	7.520644	0.999999990447188	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.22	4.22	0.49153	6.516000	0.73665	7.141000	0.57652	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	14.478	0.67141	970	0.06235	.;Deoxynucleoside kinase domain;Deoxynucleoside kinase domain;Deoxynucleoside kinase domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	959.98	34	chr2	240011654	.	C	T	959.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.614e+00;DP=787;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.97;ReadPosRankSum=0.227;SOR=0.743	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1188	20	0	1	0
chr2	240045709	240045709	G	A	exonic	OR6B3	.	nonsynonymous SNV	OR6B3:NM_173351:exon1:c.C364T:p.R122C,	.	.	443	1078	1	0	0	1	0.000463607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.218	B	0.066	B	0.000	D	1.000	D	2.515	M	-1.09	T	-0.115	T	0.422	T	0.572	2.807	15.35	3.96	2.471	3.810	14.327	0.458	0.00964350842777	.	.	0.0003	0	0	0.0010	0	0.0003	0	0.0004	3.84e-05	1	26028	rs199947939	0.0001	0.0001	0.0001	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	7.01e-05	0	0.0005	5.699e-05	0.0004	9.95e-05	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0003	0	0.0004	0	0	0	0	0.0001	0.0005	0.0004	0.009	0.57480	D	0.0	0.92824	D	0.218	0.30213	B	0.066	0.27432	B	0.000221	0.47681	D	0.000000	0.999815	0.49394	D	2.55	0.74443	M	-1.09	0.77206	T	-6.79	0.92863	D	0.234	0.26354	-0.1151	0.79749	T	0.422	0.76710	T	10	0.18081683	0.33283	T	0.009644	0.25199	T	0.458	0.75619	.	.	0.921780773804	0.92098	0.8418669633792113	0.84146	1.19150631811	0.80291	0.244575038552	0.03218	T	0.118567	0.43948	T	-0.19024	0.22224	T	-0.151359	0.59123	T	0.13862239485144	0.16156	T	0.822518	0.48242	T	0.34686038	0.56821	0.45574844	0.68361	0.34686038	0.56822	0.45574844	0.68362	-6.312	0.48817	T	.	.	0.198	0.42126	B	.;.	.;.	3.905732	0.56920	23.8	0.99772772311824798	0.86088	0.95385	0.64513	D	AEFDGBI	0.644703	0.62086	D	0.156598630829419	0.49124	3.116414	0.224790299335864	0.51227	3.307041	0.94509557818108	0.27645	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.96	3.96	0.45097	3.391000	0.52271	-0.000000	0.13247	0.669000	0.69127	1.000000	0.71638	0.000000	0.08366	0.819000	0.38590	0.0:0.0:1.0:0.0	14.327	0.66084	976	0.04745	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1422.98	72	chr2	240045709	.	G	A	1422.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.22;DP=1261;ExcessHet=0.0000;FS=3.101;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=36.23;MQRankSum=1.79;QD=18.97;ReadPosRankSum=-8.200e-01;SOR=0.856	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	20	0	1	0
chr2	240129931	240129931	G	A	exonic	COPS9	.	nonsynonymous SNV	COPS9:NM_138336:exon4:c.C361T:p.R121W,	.	.	428	1085	9	0	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	.	.	.	.	-1.049	T	0.049	T	0.049	-0.784	0.721	-3.09	-4.229	-1.544	1.715	0.027	.	0.0028	0.00139776	0.0051	0.0012	0.0050	0	0.0073	0.0056	0.0112	0.0071	0.0047024	727	154602	rs115914450	0.0041	0.0041	0.0040	0.0042	0.0078	0.0040	0.0040	0.0073	0.0071	0.0007	0.0027	0.0030	7.557e-05	0.0072	0.0040	0.0040	0.0038	0.0078	0.0031	0.0031	0.0032	0.0030	0.0044	0.0028	0.0028	0.0039	0.0037	0.0008	0	0.0024	0.0043	0.0002	0.0063	0.0034	0.0043	0.0014	0.0044	0.0	0.91255	D	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	1.63	0.00629	N	0.207	0.22998	-1.0490	0.14677	T	0.049	0.20868	T	7	0.00360775	0.00065	T	.	.	.	0.027	0.05988	.	.	0.0884992946249	0.08302	0.060819580912718274	0.06021	0.195389630327	0.21877	0.206911593676	0.00687	T	.	.	.	-0.671541	0.00054	T	-0.734091	0.04145	T	0.00930137150031257	0.00118	T	0.435556	0.11926	T	.	.	.	.	.	.	.	.	-5.393	0.40852	T	.	.	0.366	0.57573	A	.	.	-0.254570	0.02823	0.391	0.78456567122932019	0.12309	0.00329	0.01719	N	AEFBCI	0.032994	0.03832	N	-2.02558438502064	0.00186	0.007984023	-2.19083033208253	0.00117	0.005156783	0.999998989451334	0.74766	0.498214	0.20090	0	0.572659	0.20510	0	0.572659	0.19721	0	0.714379	0.83352	0	.	.	1.54	-3.09	0.05006	-2.417000	0.01112	-0.583000	0.08366	-2.444000	0.00282	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1797:0.1277:0.4403:0.2524	1.715	0.02724	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	8543.66	33	chr2	240129931	.	G	A	8543.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.603;DP=1099;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=23.34;ReadPosRankSum=-2.451e+00;SOR=0.715	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1364	19	1	1	0
chr2	240130020	240130020	C	G	exonic	COPS9	.	nonsynonymous SNV	COPS9:NM_138336:exon4:c.G272C:p.G91A,	.	.	427	1078	16	1	0	18	0.00827967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.337	B	0.038	B	.	.	1.000	N	.	.	.	.	-1.038	T	0.037	T	0.069	1.821	12.05	0.499	0.150	-0.270	3.479	0.011	.	0.0037	0.0115815	0.0101	0.0018	0.0033	0.0002	0.0008	0.0042	0.0144	0.0515	0.0086286	1334	154602	rs115716357	0.0059	0.0059	0.0047	0.0071	0.0470	0.0058	0.0057	0.0458	0.0453	0.0010	0.0030	0.0193	0.0001	0.0005	0.0118	0.0030	0.0078	0.0470	0.0041	0.0042	0.0038	0.0045	0.0462	0.0039	0.0038	0.0413	0.0393	0.0008	0.0055	0.0044	0.0181	0	0.0003	0.0102	0.0032	0.0062	0.0462	0.0	0.91255	D	0.0	0.92824	D	0.337	0.33382	B	0.038	0.23361	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-1.78	0.42001	N	0.215	0.24010	-1.0377	0.18016	T	0.037	0.15899	T	7	0.0024957657	0.00038	T	.	.	.	0.011	0.01250	.	.	0.0297737177859	0.01360	0.047931641576438616	0.04736	0.202601885681	0.22681	0.344620317221	0.17126	T	.	.	.	-0.624069	0.00104	T	-0.633438	0.10156	T	0.0118260331577385	0.00183	T	0.306369	0.05889	T	.	.	.	.	.	.	.	.	-3.158	0.11975	T	.	.	0.145	0.31931	B	.	.	0.147951	0.05405	1.883	0.98719788304269318	0.45186	0.05368	0.11229	N	AEFDBCI	0.027371	0.02223	N	-0.863289464914987	0.11724	0.5673902	-1.02932197752064	0.09144	0.4532831	0.928712867865185	0.26940	0.498214	0.20090	0	0.572659	0.20510	0	0.486962	0.07600	0	0.714379	0.83352	0	.	.	1.48	0.499	0.16119	-0.052000	0.11821	-1.597000	0.05092	0.531000	0.24825	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7043:0.0:0.2957	3.479	0.07160	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1840.98	33	chr2	240130020	.	C	G	1840.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.40;DP=882;ExcessHet=0.0000;FS=0.629;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=0.013;SOR=0.777	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1364	20	0	1	0
chr2	240464925	240464925	G	A	exonic	GPC1	.	nonsynonymous SNV	GPC1:NM_002081:exon6:c.G1084A:p.G362S,	.	.	424	1090	8	0	0	8	0.00365631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.016	B	0.042	B	0.538	N	0.995	D	2.15	M	0.83	T	-0.988	T	0.098	T	0.421	1.145	9.665	4.16	2.027	2.072	12.279	0.124	.	.	0.00778754	0.0045	0	0	0.0483	0	0.0003	0	0.0064	0.0018693	289	154602	rs192798269	0.0012	0.0012	0.0011	0.0012	0.0242	0.0011	0.0011	0.0229	0.0224	3.155e-05	0.0002	0.0006	0.0242	0	0.0005	4.816e-05	0.0029	0.0063	0.0015	0.0015	0.0012	0.0018	0.0309	0.0013	0.0012	0.0270	0.0255	4.812e-05	0	0.0003	0.0003	0.0309	0	0	7.353e-05	0.0009	0.0099	0.444	0.09155	T	0.25	0.92824	T	0.016	0.17332	B	0.042	0.24114	B	0.537724	0.05295	N	1.248820	0.994991	0.42500	D	2.005	0.54552	M	0.83	0.47815	T	-3.05	0.62976	D	0.144	0.14480	-0.9876	0.33200	T	0.098	0.36625	T	10	0.00418213	0.00083	T	.	.	.	0.151	0.39764	.	.	0.792639443868	0.79071	0.5268665032889499	0.52610	0.18267640142	0.20537	0.458062052727	0.33045	T	0.127932	0.45526	T	-0.458234	0.01008	T	-0.401011	0.33266	T	0.0228339323741409	0.01004	T	0.780122	0.41468	T	0.23862527	0.46742	0.19241376	0.42753	0.23862527	0.46742	0.19241376	0.42752	-2.75	0.07733	T	.	.	0.084	0.17827	B	.;.;.	.;.;.	2.097490	0.26686	17.20	0.88760895743056256	0.18234	0.50538	0.28686	D	AEFDBCI	0.417390	0.48545	N	-0.342253769574433	0.27558	1.51292	-0.328655977400558	0.27178	1.506246	0.999895679669452	0.45129	0.706298	0.61202	0	0.588066	0.40923	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.16	4.16	0.48138	1.707000	0.37507	4.738000	0.44591	0.618000	0.50648	0.022000	0.19841	1.000000	0.68203	0.515000	0.29359	0.0:0.0:1.0:0.0	12.279	0.54069	994	0.00715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	592.98	35	chr2	240464925	.	G	A	592.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.95;DP=855;ExcessHet=0.0000;FS=1.087;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.22;ReadPosRankSum=-1.211e+00;SOR=0.983	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,101,1429	20	0	1	0
chr2	240482252	240482252	A	-	exonic	ANKMY1	.	frameshift deletion	ANKMY1:NM_001282780:exon12:c.1886delT:p.I629Tfs*6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368827703	2.054e-06	2.052e-06	2.725e-06	1.377e-06	2.251e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	2.251e-05	0	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	480.94	37	chr2	240482251	.	GA	G	480.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.779e+00;DP=727;ExcessHet=0.0000;FS=7.848;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=1.15;SOR=0.132	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr2	240500538	240500538	C	T	exonic	ANKMY1	.	nonsynonymous SNV	ANKMY1:NM_001282780:exon10:c.G1624A:p.D542N	.	.	420	1101	1	0	0	1	0.000453926	.	.	2194664	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.69	T	1.0	D	1.0	D	0.000	D	1.000	D	0.935	L	4.06	T	-0.582	T	0.348	T	0.354	2.165	13.19	3.13	0.805	0.997	7.708	0.261	0.102722201783	0.0005	0.000399361	0.0004	9.619e-05	0.0004	0	0	0.0006	0	0.0003	0.0004075	63	154602	rs147582329	0.0008	0.0008	0.0009	0.0008	0.0010	0.0008	0.0008	0.0010	0.0009	0.0001	0.0004	0	0	0.0002	0.0003	0.0010	0.0005	0.0005	0.0004	0.0004	0.0004	0.0005	0.0008	0.0003	0.0003	0.0006	0.0006	0.0001	0	0.0003	0	0	9.413e-05	0	0.0008	0.0005	0.0004	0.993	0.15251	T	0.183	0.29153	T	0.98	0.90584	D	0.539	0.97372	P	0.000001	0.84330	D	0.000000	0.957524	0.38028	D	1.34	0.33385	L	-0.48	0.73739	T	-2.09	0.53096	N	0.374	0.42834	-0.5820	0.65538	T	0.348	0.71257	T	10	0.10395956	0.19141	T	0.102722	0.77634	D	0.261	0.57352	.	.	0.840818225028	0.83929	0.4828077861318687	0.48200	.	.	0.399794608355	0.25040	T	0.048191	0.27944	T	-0.293514	0.09286	T	-0.290639	0.45707	T	0.0480536336384634	0.05153	T	0.914708	0.69569	D	0.12933064	0.30211	0.080265015	0.18143	0.12933064	0.30211	0.080265015	0.18142	-6.16	0.47598	T	.	.	0.137	0.40666	B	.;.;.;.;.;.	.;.;.;.;.;.	2.632334	0.34230	19.57	0.99738319334316827	0.83337	0.37523	0.25781	N	AEFDBI	0.088386	0.17918	N	-0.1503958289106	0.35218	2.020083	-0.237794973001279	0.30194	1.697965	0.0141745124743771	0.12563	0.638212	0.43195	0	0.670034	0.63936	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.01	3.13	0.35090	1.143000	0.31164	1.134000	0.24350	0.545000	0.25583	0.770000	0.29357	0.628000	0.25851	0.011000	0.09372	0.0:0.8776:0.0:0.1224	7.708	0.27826	994	0.00715	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain;Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain;Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1740.98	37	chr2	240500538	.	C	T	1740.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.67;DP=1041;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=1.67;SOR=0.740	GT:AD:DP:GQ:PL	0/0:93,0:93:99:0,120,1800	20	0	1	0
chr2	240524216	240524216	C	T	exonic	ANKMY1	.	nonsynonymous SNV	ANKMY1:NM_001354026:exon5:c.G544A:p.G182S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.401	B	0.045	B	0.026	N	1.000	N	0.345	N	4.45	T	-1.053	T	0.060	T	0.199	-0.607	1.293	-4.95	-2.050	-4.325	0.317	0.056	0.010173145402	.	0.000199681	0.0002	0	0	0.0030	0	4.522e-05	0	0	0.0002135	33	154602	rs202110899	9.1e-05	9.098e-05	0.0001	7.702e-05	0.0022	7.825e-05	7.306e-05	0.0018	0.0017	5.974e-05	0	0	0.0022	0	0.0002	2.878e-05	0.0002	2.319e-05	0.0001	0.0001	0.0001	0.0001	0.0037	8.662e-05	7.254e-05	0.0024	0.0020	0	0	0	0	0.0037	0	0	1.47e-05	0	0	0.432	0.12961	T	0.502	0.13290	T	0.018	0.34877	B	0.004	0.24526	B	0.025532	0.01632	N	2.633480	1	0.08975	N	0.17	0.09006	N	2.97	0.54540	T	-0.52	0.17417	N	0.055	0.05799	-1.0528	0.13628	T	0.060	0.24945	T	10	0.0062376857	0.00141	T	0.010173	0.26390	T	0.056	0.15993	.	.	0.532311620844	0.52880	0.22496203532363984	0.22411	.	.	0.208711594343	0.00758	T	0.007638	0.07033	T	-0.56803	0.00227	T	-0.590818	0.13595	T	0.0148756564283025	0.00315	T	0.70513	0.31558	T	0.035975672	0.04338	0.031042742	0.01638	0.035975672	0.04337	0.031042742	0.01638	-2.54	0.07489	T	.	.	0.085	0.10835	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-1.574421	0.00253	0.004	0.70526005818141391	0.09324	0.00450	0.02181	N	AEFBI	0.051112	0.09000	N	-1.78910263008833	0.00572	0.02465107	-1.90779964755538	0.00472	0.02092308	0.939394039909282	0.27385	0.651	0.46895	0	0.694456	0.67091	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	2.48	-4.95	0.02821	-4.303000	0.00293	-8.118000	0.01025	-0.982000	0.01892	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2863:0.2046:0.2818:0.2274	0.317	0.00276	994	0.00715	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2052.98	41	chr2	240524216	.	C	T	2052.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.47;DP=1079;ExcessHet=0.0000;FS=6.006;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.16;ReadPosRankSum=1.04;SOR=0.384	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	20	0	1	0
chr2	240587011	240587011	C	G	exonic	CAPN10	.	nonsynonymous SNV	CAPN10:NM_023083:exon1:c.C100G:p.L34V	.	.	0	1521	1	0	0	1	0.000328623	.	.	719750	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.5	T	0.997	D	0.942	D	0.009	N	0.986	D	1.335	L	2.39	T	-1.017	T	0.073	T	0.325	2.494	14.30	2.55	0.655	1.288	6.698	0.109	.	0.0041	0.00359425	0.0057	0.0031	0.0106	0	0.0625	0.0163	0	0	0.0031177	482	154602	rs138005500	0.0080	0.0078	0.0082	0.0078	0.0086	0.0079	0.0078	0.0084	0.0084	0.0011	0.0036	0.0075	3.535e-05	0.0226	0.0004	0.0086	0.0058	0.0003	0.0080	0.0080	0.0072	0.0089	0.0108	0.0076	0.0075	0.0102	0.0099	0.0017	0.0077	0.0037	0.0063	0	0.0292	0	0.0108	0.0071	0.0002	0.096	0.31088	T	0.112	0.38742	T	0.955	0.66517	P	0.843	0.64171	P	0.009053	0.30540	N	0.273086	0.985527	0.40296	D	1.28	0.32218	L	2.39	0.42502	T	-0.96	0.39314	N	0.15	0.25006	-1.0172	0.24625	T	0.073	0.29707	T	10	0.0049797	0.00107	T	.	.	.	0.109	0.30843	.	.	0.65796100957	0.65510	0.26430451745289957	0.26343	0.557580051263	0.52378	0.759727060795	0.75888	T	0.169147	0.51642	T	-0.465155	0.00912	T	-0.429909	0.29944	T	0.017963551763616	0.00521	T	0.880612	0.75551	D	0.10285304	0.24306	0.067142904	0.13849	0.10285304	0.24306	0.067142904	0.13849	-6.34	0.49039	T	.	.	0.121	0.29806	B	.;.;.;.;.	.;.;.;.;.	4.756547	0.76857	26.6	0.98797520337582034	0.46397	0.78333	0.38631	D	ALL	0.225982	0.34999	N	0.0812080271910238	0.45588	2.812732	0.0286574514644668	0.41052	2.459899	0.999999999145772	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.372554	0.06265	0	.	.	3.44	2.55	0.29757	2.152000	0.41897	5.705000	0.49397	0.599000	0.40250	0.950000	0.33075	1.000000	0.68203	0.942000	0.48361	0.0:0.8657:0.0:0.1343	6.698	0.22400	994	0.00715	Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1044.98	43	chr2	240587011	.	C	G	1044.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.288e+00;DP=816;ExcessHet=0.0000;FS=3.434;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.01;ReadPosRankSum=-4.380e-01;SOR=0.724	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1043	20	0	1	0
chr2	240757426	240757426	-	TCC	exonic	KIF1A	.	nonframeshift insertion	KIF1A:NM_001379632:exon26:c.2699_2700insGGA:p.E900_D901insE	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878988727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	45978.09	90	chr2	240757423	.	ATCC	A,ATCCTCC	45978.09	.	AC=22,1;AF=0.524,0.024;AN=42;BaseQRankSum=-5.170e-01;DP=2530;ExcessHet=0.5442;FS=0.000;InbreedingCoeff=0.1350;MLEAC=22,1;MLEAF=0.524,0.024;MQ=60.00;MQRankSum=0.00;QD=29.32;ReadPosRankSum=0.110;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0:34:99:.:.:0,102,1098,102,1098,1098	5	7	8	0
chr2	240757497	240757497	C	T	exonic	KIF1A	.	nonsynonymous SNV	KIF1A:NM_001379632:exon26:c.G2629A:p.D877N	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	.	0	1518	4	0	0	4	0.00131579	.	.	405679	Inborn_genetic_diseases|Hereditary_spastic_paraplegia_30|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012476,MedGen:C5235139,OMIM:610357,Orphanet:101010|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.5	T	0.997	D	0.924	D	.	.	1.000	D	.	.	-0.71	T	-0.226	T	0.486	T	0.098	3.570	18.20	4.69	2.163	6.265	17.592	0.193	0.743041971239	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1064796756	2.646e-05	2.531e-05	2.822e-05	2.465e-05	0.0011	1.953e-05	1.705e-05	0.0005	0.0003	0	0.0001	0	0	0	0.0011	1.205e-05	0.0002	5.051e-05	2.63e-05	2.627e-05	5.14e-05	0	4.826e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	2.94e-05	0	0	0.386	0.12109	T	0.391	0.15456	T	0.82	0.45712	P	0.202	0.36942	B	.	.	.	.	0.992559	0.81001	D	.	.	.	-0.71	0.73631	T	-1.38	0.34198	N	0.588	0.60833	-0.2257	0.77001	T	0.486	0.80415	T	8	0.332722	0.50474	T	0.743042	0.97944	D	0.193	0.47281	0.165	0.06955	0.58525841101	0.58198	0.6369553338975968	0.63629	0.727998351908	0.62593	0.797436118126	0.81573	T	.	.	.	-0.244113	0.14829	T	-0.394779	0.33994	T	0.618377268314362	0.37139	D	0.975302	0.91743	D	.	.	.	.	.	.	.	.	-6.171	0.48125	T	.	.	0.097	0.22135	B	.;.;.;.	.;.;.;.	4.572269	0.72147	25.8	0.99844460086670195	0.92489	0.90947	0.52564	D	AEFDBHCI	0.804583	0.72940	D	0.370735864074703	0.59842	4.16714	0.410842131006571	0.62240	4.436045	0.99999999717325	0.74766	0.460665	0.09802	0	0.547309	0.14657	0	0.575934	0.27490	0	0.562822	0.20929	0	.	.	4.69	4.69	0.58546	6.377000	0.73077	2.610000	0.33572	0.579000	0.29447	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	17.592	0.87900	988	0.01987	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1493.98	36	chr2	240757497	.	C	T	1493.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.025;DP=865;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.94;ReadPosRankSum=-1.413e+00;SOR=0.652	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1098	20	0	1	0
chr2	240868891	240868891	C	A	exonic	AGXT	.	nonsynonymous SNV	AGXT:NM_000030:exon1:c.C26A:p.T9N,	Hyperoxaluria, primary, type 1, Autosomal recessive	YES	4	1474	42	2	0	46	0.0153641	.	.	200420	not_specified|not_provided|Primary_hyperoxaluria,_type_I	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.15	T	0.002	B	0.022	B	0.291	N	1.000	N	1.04	L	-2.5	D	-0.556	T	0.408	T	0.101	0.279	5.511	1.4	0.313	0.633	9.964	0.259	.	0.0067	0.00379393	0.0112	0.0018	0.0109	0	0.0156	0.0146	0.0197	0.0072	0.0082858	1281	154602	rs115014558	0.0091	0.0091	0.0090	0.0091	0.0146	0.0089	0.0089	0.0121	0.0111	0.0013	0.0062	0.0129	0	0.0133	0.0146	0.0096	0.0088	0.0067	0.0071	0.0071	0.0074	0.0068	0.0105	0.0067	0.0066	0.0098	0.0096	0.0019	0	0.0045	0.0176	0.0004	0.0119	0.0068	0.0105	0.0043	0.0044	0.045	0.40832	D	0.178	0.29639	T	0.001	0.07471	B	0.013	0.16460	B	0.290800	0.14772	N	0.690471	1	0.08975	N	0.55	0.14455	N	-2.5	0.89219	D	-1.03	0.27052	N	0.695	0.70000	-0.5564	0.66541	T	0.408	0.75699	T	10	0.007460147	0.00169	T	.	.	.	0.259	0.57090	.	.	0.462200489575	0.45844	0.7253533254968803	0.72479	0.0363000679413	0.03840	0.289268434048	0.08816	T	0.184053	0.53658	T	-0.459166	0.00995	T	-0.421949	0.30852	T	0.00124116546586736	0.00012	T	0.322368	0.06563	T	0.10993986	0.25990	0.09802004	0.23354	0.18965824	0.40516	0.10583506	0.25449	-5.319	0.40131	T	.	.	0.081	0.08176	B	.	.	0.442226	0.08122	4.854	0.83825151180814905	0.14941	0.18979	0.20479	N	AEFGBHCI	0.634145	0.61413	D	-1.3091462423902	0.03569	0.159694	-1.32216890523672	0.04145	0.194878	0.999999007721818	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.42	1.4	0.21393	0.775000	0.26351	-0.315000	0.10009	-1.117000	0.01478	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2787:0.5869:0.1344:0.0	9.964	0.40883	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	583.98	34	chr2	240868891	.	C	A	583.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=747;ExcessHet=0.0000;FS=1.150;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=1.25;SOR=0.507	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1083	20	0	1	0
chr2	240891751	240891751	G	A	exonic	MAB21L4	.	nonsynonymous SNV	MAB21L4:NM_001085437:exon2:c.C527T:p.A176V	.	.	419	1089	14	0	0	14	0.00638686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.095	B	0.02	B	0.012	N	1.000	N	1.225	L	2.59	T	-1.029	T	0.024	T	0.223	0.002	4.023	0.325	-0.169	0.575	6.846	0.021	0.0108186377131	0.0005	0.000998403	0.0009	0.0016	0.0007	0	0	0.0007	0.0034	0.0022	0.0007568	117	154602	rs201604905	0.0005	0.0005	0.0004	0.0006	0.0059	0.0005	0.0005	0.0043	0.0038	0.0011	0.0003	0.0028	5.042e-05	0	0.0059	0.0003	0.0010	0.0025	0.0008	0.0008	0.0008	0.0007	0.0016	0.0007	0.0006	0.0013	0.0012	0.0016	0	0.0004	0.0017	0.0002	0	0.0034	0.0004	0.0009	0.0012	0.103	0.31682	T	0.164	0.33442	T	0.078	0.24389	B	0.012	0.16460	B	0.011502	0.29503	N	0.234705	1	0.08975	N	.	.	.	2.59	0.13317	T	-1.77	0.41809	N	0.137	0.13484	-1.0287	0.20876	T	0.024	0.10419	T	10	0.0045983195	0.00096	T	0.010819	0.27789	T	0.021	0.04004	.	.	0.0138822411134	0.00435	0.35883695406420824	0.35797	0.0728121074558	0.08157	.	.	.	0.026109	0.19387	T	-0.607646	0.00131	T	-0.651476	0.08851	T	0.00406787252061537	0.00043	T	0.654235	0.26653	T	0.03601277	0.04350	0.046702866	0.06566	0.03601277	0.04350	0.046702866	0.06566	-2.855	0.08701	T	.	.	0.119	0.29941	B	.;.;.	.;.;.	0.580636	0.09490	6.269	0.93161620481933205	0.22814	0.03500	0.08672	N	AEFDBI	0.050115	0.08728	N	-1.03396349406728	0.07906	0.3688617	-1.09987671852482	0.07703	0.3757531	0.745550986779005	0.23279	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.24	0.325	0.15145	-0.372000	0.07559	-0.121000	0.11721	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.4148:0.0:0.5852:0.0	6.846	0.23169	970	0.06235	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	960.98	34	chr2	240891751	.	G	A	960.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.941;DP=1139;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.81;ReadPosRankSum=-1.286e+00;SOR=0.722	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1186	20	0	1	0
chr2	240934338	240934338	C	G	exonic	CROCC2	.	nonsynonymous SNV	CROCC2:NM_001351305:exon12:c.C1654G:p.R552G,	.	.	431	1088	2	1	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	.	.	.	.	.	.	.	.	.	.	0.96	T	-1.017	T	0.042	T	0.152	1.408	10.64	2.22	1.939	0.385	3.702	0.059	.	.	0.00738818	0.0015	0.0212	0.0035	0	0	0.0002	0	0	0.0005757	89	154602	rs141564189	0.0007	0.0007	0.0008	0.0006	0.0253	0.0007	0.0007	0.0238	0.0232	0.0253	0.0015	0	0	0	0.0022	3.615e-05	0.0017	7.583e-05	0.0067	0.0067	0.0072	0.0062	0.0228	0.0064	0.0062	0.0216	0.0211	0.0228	0	0.0032	0	0	0	0	0.0001	0.0066	0	.	.	.	0.02	0.58613	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	0.37613	-1.0172	0.24625	T	0.042	0.17869	T	5	0.004887879	0.00104	T	.	.	.	.	.	.	.	0.388970301349	0.38507	0.0706335361650638	0.07000	.	.	.	.	.	0.024569	0.18538	T	-0.539977	0.00335	T	-0.528819	0.19404	T	0.00978569450253716	0.00129	T	.	.	.	0.1669232	0.37058	0.19602239	0.43311	0.1669232	0.37057	0.19602239	0.43310	-7.873	0.60201	D	.	.	0.166	0.36633	B	.	.	3.545676	0.49816	22.8	0.99481528005632114	0.66904	0.04807	0.10528	N	AEFDBI	0.111228	0.22029	N	-0.210406427757895	0.32706	1.847436	-0.268263925983629	0.29151	1.630896	0.566753638158859	0.21459	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	4.29	2.22	0.27116	-0.101000	0.10943	3.056000	0.36140	0.549000	0.26987	0.000000	0.06391	0.139000	0.23074	0.561000	0.30436	0.174:0.5722:0.1499:0.1038	3.702	0.07916	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	364.98	35	chr2	240934338	.	C	G	364.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.597;DP=747;ExcessHet=0.0000;FS=1.157;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.77;ReadPosRankSum=-1.314e+00;SOR=0.864	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr2	240935551	240935551	G	A	exonic	CROCC2	.	nonsynonymous SNV	CROCC2:NM_001351305:exon14:c.G2132A:p.G711E,	.	.	409	1110	3	0	0	3	0.00134953	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	.	.	.	.	.	.	.	.	1.1	L	2.63	T	-0.923	T	0.067	T	0.156	-0.335	2.415	-2.8	-0.501	-0.402	11.197	0.021	.	.	0.00758786	0.0070	0.0479	0	0	0	0	0	0	0.0006015	93	154602	rs187987650	0.0007	0.0007	0.0008	0.0007	0.0291	0.0007	0.0007	0.0273	0.0266	0.0291	0.0024	0	0	0	0.0025	3.054e-05	0.0022	8.034e-05	0.0079	0.0079	0.0083	0.0074	0.0271	0.0075	0.0074	0.0258	0.0252	0.0271	0	0.0033	0	0	0	0	0.0001	0.0076	0	.	.	.	0.948	0.02632	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.01274	-0.9231	0.45126	T	0.067	0.27434	T	6	0.0032262504	0.00055	T	.	.	.	.	.	.	.	0.104622674875	0.10061	0.06367682268523439	0.06306	.	.	.	.	.	0.011	0.09944	T	-0.576538	0.00202	T	-0.579303	0.14607	T	0.00425357990189368	0.00045	T	.	.	.	0.07220167	0.16044	0.12166434	0.29353	0.07220167	0.16043	0.12166434	0.29353	-5.473	0.41615	T	.	.	0.103	0.18580	B	.	.	0.060242	0.04712	1.349	0.62452192584207422	0.06966	0.01418	0.04786	N	AEFDBI	0.041142	0.06216	N	-1.07567293225804	0.07093	0.3285216	-1.23648199386384	0.05335	0.2539085	0.640797087268103	0.22052	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.07	-2.8	0.05477	-0.284000	0.08456	-0.894000	0.07016	-0.167000	0.11441	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4435:0.0:0.5565:0.0	11.197	0.47949	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	900.98	36	chr2	240935551	.	G	A	900.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.014;DP=769;ExcessHet=0.0000;FS=1.306;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.48;ReadPosRankSum=0.303;SOR=0.446	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,997	20	0	1	0
chr2	240946223	240946223	G	C	exonic	CROCC2	.	nonsynonymous SNV	CROCC2:NM_001351305:exon15:c.G2333C:p.R778P,	.	.	433	1088	0	1	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.8	T	-0.954	T	0.059	T	0.456	1.227	9.976	-3.08	-0.545	-0.332	11.621	0.114	.	.	0.000798722	0.0006	0	0	0.0021	0	0.0009	0	0.0005	0.0001229	19	154602	rs537774664	0.0005	0.0005	0.0005	0.0005	0.0053	0.0005	0.0005	0.0047	0.0045	6.361e-05	0	0.0006	0.0053	0.0047	0.0005	0.0002	0.0007	0.0004	0.0010	0.0010	0.0007	0.0013	0.0044	0.0009	0.0008	0.0030	0.0026	2.405e-05	0.0461	0	0.0006	0.0044	0.0052	0	0.0003	0.0005	0.0008	.	.	.	0.07	0.43721	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.20660	-0.9537	0.40327	T	0.059	0.24649	T	4	0.004668057	0.00098	T	.	.	.	.	.	.	.	0.130388298395	0.12655	0.2822117922855381	0.28134	.	.	.	.	.	0.070894	0.34073	T	-0.426604	0.01554	T	-0.385844	0.35038	T	0.0856258563552096	0.10690	T	.	.	.	0.2196176	0.44497	0.29028696	0.55051	0.2196176	0.44497	0.29028696	0.55050	-12.186	0.85745	D	.	.	0.323	0.54747	B	.	.	1.385688	0.17977	13.48	0.96991026555515658	0.31900	0.03788	0.09111	N	AEFDBI	0.174622	0.30176	N	-0.772605206512046	0.14027	0.6954716	-0.924679436548314	0.11512	0.5869424	0.758219419661703	0.23468	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.93	-3.08	0.05022	-0.570000	0.05986	-2.654000	0.03503	-0.116000	0.14526	0.000000	0.06391	0.000000	0.08366	0.202000	0.21954	0.3137:0.0:0.6863:0.0	11.621	0.50376	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	655.98	35	chr2	240946223	.	G	C	655.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.633;DP=755;ExcessHet=0.0000;FS=1.022;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.58;ReadPosRankSum=-1.797e+00;SOR=0.963	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr2	241096064	241096078	GTCATCCTCATCATT	-	exonic	MTERF4	.	nonframeshift deletion	MTERF4:NM_001330179:exon3:c.502_516del:p.N168_D172del	.	.	417	1099	5	1	0	7	0.0031746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0159	.	0.0011	0.0035	8.648e-05	0.0001	0	0.0002	0.0011	0.0047	0.0008344	129	154602	rs745932546	0.0006	0.0006	0.0005	0.0007	0.0053	0.0005	0.0005	0.0049	0.0048	0.0040	0.0002	0	5.04e-05	3.744e-05	0.0014	0.0002	0.0008	0.0053	0.0012	0.0012	0.0012	0.0012	0.0060	0.0011	0.0010	0.0043	0.0037	0.0035	0	0.0003	0	0	0	0	0.0001	0.0014	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3022.94	35	chr2	241096063	.	CGTCATCCTCATCATT	C	3022.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.780e-01;DP=921;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.79;ReadPosRankSum=0.176;SOR=0.737	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1257	20	0	1	0
chr2	241217768	241217768	G	-	exonic	ANO7	.	frameshift deletion	ANO7:NM_001370694:exon20:c.2055delG:p.I686Sfs*144,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2037.94	127	chr2	241217767	.	AG	A	2037.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.830e-01;DP=1252;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.05;ReadPosRankSum=-1.315e+00;SOR=0.685	GT:AD:DP:GQ:PL	0/0:93,0:93:99:0,120,1800	20	0	1	0
chr2	241236668	241236668	T	C	exonic	HDLBP	.	nonsynonymous SNV	HDLBP:NM_001243900:exon21:c.A2752G:p.I918V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.999	D	0.988	D	0.000	N	1.000	D	2.16	M	1.75	T	-0.986	T	0.138	T	0.238	3.800	19.30	4.54	0.993	7.573	11.443	0.136	0.0178532886134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.27783	T	0.053	0.47336	T	.	.	.	.	.	.	0.000000	0.84330	N	0.047041	1	0.81001	D	.	.	.	1.75	0.26152	T	-0.79	0.21860	N	0.571	0.60410	-0.9863	0.33518	T	0.138	0.45508	T	10	0.4313547	0.57511	T	0.017853	0.39707	T	0.136	0.36778	0.604	0.73586	0.102598925029	0.09809	0.5707151157732244	0.56999	1.41316520035	0.85479	0.744052290916	0.73568	T	.	.	.	-0.134706	0.30738	T	-0.431273	0.29791	T	0.911651909351349	0.56729	D	0.851115	0.53499	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.58646	B	.;.;.;.	.;.;.;.	3.797468	0.54692	23.5	0.99854856080392396	0.93368	0.97069	0.72509	D	AEFBHCI	0.910516	0.86853	D	0.50443120992409	0.67350	5.070105	0.493763495683185	0.67576	5.10254	0.99999987350005	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.69	4.54	0.55220	7.605000	0.82070	4.997000	0.46569	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0702:0.0:0.9298	11.443	0.49349	994	0.00715	K Homology domain, type 1|K Homology domain;.;K Homology domain, type 1|K Homology domain;K Homology domain, type 1|K Homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	105.33	38	chr2	241236668	.	T	C	105.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-5.114e+00;DP=1499;ExcessHet=0.0000;FS=90.801;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=0.52;ReadPosRankSum=2.41;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1276	19	0	1	1
chr2	241236671	241236671	T	C	exonic	HDLBP	.	nonsynonymous SNV	HDLBP:NM_001243900:exon21:c.A2749G:p.I917V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.008	B	0.05	B	0.000	D	1.000	D	1.055	L	1.64	T	-1.079	T	0.060	T	0.176	1.913	12.36	5.69	2.162	5.703	15.945	0.104	0.00708499722395	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.10945	T	0.588	0.08273	T	.	.	.	.	.	.	0.000003	0.62929	D	0.103999	0.999869	0.50061	D	.	.	.	1.64	0.27822	T	-0.27	0.11366	N	0.081	0.06059	-1.0791	0.07524	T	0.060	0.25018	T	10	0.13013917	0.24765	T	0.007085	0.18759	T	0.104	0.29647	0.473	0.54859	0.0675242888579	0.06100	0.1899094645372865	0.18908	0.593740435929	0.54712	0.623579800129	0.56235	T	.	.	.	-0.189155	0.22383	T	-0.509484	0.21368	T	0.594890356063843	0.36198	D	0.852615	0.53799	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.01934	B	.;.;.;.	.;.;.;.	2.687292	0.35067	19.80	0.98643433493941868	0.44082	0.90408	0.51560	D	AEFBHCI	0.629641	0.61128	D	-0.121948295283556	0.36437	2.106196	0.0950216894630602	0.44297	2.714263	0.999999976924614	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.69	5.69	0.88346	5.729000	0.68186	7.858000	0.71298	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	15.945	0.79573	994	0.00715	K Homology domain, type 1|K Homology domain;.;K Homology domain, type 1|K Homology domain;K Homology domain, type 1|K Homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02778	113.1	38	chr2	241236671	.	T	C	113.1	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.420e+00;DP=2007;ExcessHet=0.0000;FS=94.376;InbreedingCoeff=-0.0640;MLEAC=1;MLEAF=0.028;MQ=60.00;MQRankSum=0.00;QD=0.55;ReadPosRankSum=1.88;SOR=6.438	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:170,0:170:0:.:.:0,0,4022	17	0	1	3
chr2	241317537	241317537	T	-	exonic	SEPTIN2	.	frameshift deletion	SEPTIN2:NM_001349287:exon3:c.112delT:p.C43Vfs*23,	.	.	3	4	19	0	200	219	0.703704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	9867.71	78	chr2	241317535	.	ATT	A,AT	9867.71	.	AC=2,20;AF=0.048,0.476;AN=42;BaseQRankSum=0.729;DP=1727;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=1,20;MLEAF=0.024,0.476;MQ=60.00;MQRankSum=0.00;QD=7.46;ReadPosRankSum=0.074;SOR=0.692	GT:AD:DP:GQ:PL	0/1:30,11,11:61:74:307,0,964,74,515,661	0	0	1	0
chr2	241373241	241373241	A	G	exonic	FARP2	.	nonsynonymous SNV	FARP2:NM_001282983:exon2:c.A134G:p.H45R	.	.	427	1047	45	3	0	51	0.0237762	.	.	719777	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.59	T	0.001	B	0.002	B	0.855	N	1.000	N	0.51	N	-0.8	T	-0.777	T	0.334	T	0.342	0.765	8.045	-7.7	-0.811	-0.085	10.763	0.174	.	0.0007	0.00359425	0.0034	9.697e-05	0.0009	0.0001	0.0002	0.0013	0.0101	0.0202	0.0028913	447	154602	rs150312458	0.0015	0.0016	0.0010	0.0021	0.0190	0.0015	0.0015	0.0182	0.0179	6.429e-05	0.0006	0.0040	2.674e-05	3.818e-05	0.0100	0.0003	0.0020	0.0190	0.0013	0.0013	0.0010	0.0016	0.0197	0.0011	0.0011	0.0165	0.0153	0.0001	0	0.0007	0.0046	0	0.0002	0.0068	0.0007	0.0047	0.0197	0.316	0.13744	T	0.476	0.13832	T	0.001	0.07471	B	0.001	0.06944	B	0.854686	0.08938	N	0.936529	1	0.08975	N	0.935	0.23595	L	-0.8	0.87591	T	-1.46	0.49684	N	0.218	0.24385	-0.7772	0.56459	T	0.334	0.70101	T	10	0.004382789	0.00089	T	.	.	.	0.174	0.44019	.	.	0.508223314113	0.50461	0.17052013720467224	0.16972	0.0643189233085	0.07168	0.276633054018	0.07027	T	0.053007	0.29322	T	-0.345805	0.04996	T	-0.254565	0.49365	T	0.00849698532556017	0.00103	T	0.549445	0.19458	T	0.025778024	0.01554	0.043584656	0.05456	0.025778024	0.01554	0.043584656	0.05456	-2.43	0.05320	T	.	.	0.073	0.05188	B	.;.;.;.;.	.;.;.;.;.	-0.258881	0.02802	0.385	0.72898659313836633	0.10135	0.07713	0.13715	N	AEFGBHCI	0.092076	0.18644	N	-1.23713783796239	0.04472	0.2018995	-1.27425825751002	0.04781	0.2263567	0.999999937993156	0.74766	0.732398	0.92422	0	0.658105	0.61773	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.3	-7.7	0.01120	-0.086000	0.11198	-0.494000	0.08842	0.751000	0.87719	0.000000	0.06391	0.000000	0.08366	0.766000	0.36367	0.3729:0.4995:0.1276:0.0	10.763	0.45474	988	0.01987	FERM domain|Band 4.1 domain;.;.;FERM domain;FERM domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	5921.68	46	chr2	241373241	.	A	G	5921.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.73;DP=1299;ExcessHet=0.3300;FS=0.530;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=0.055;SOR=0.711	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1087	18	0	3	0
chr2	241570277	241570277	C	T	exonic	BOK	.	nonsynonymous SNV	BOK:NM_032515:exon4:c.C502T:p.R168C,	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	1.935	M	0.82	T	-0.554	T	0.263	T	0.83	3.361	17.32	4.94	2.269	1.564	12.871	0.393	0.106984599396	.	.	7.238e-05	0	0.0010	0	0	0	0	0.0001	2.59e-05	4	154602	rs765671952	2.414e-05	2.531e-05	2.528e-05	2.298e-05	0.0005	1.738e-05	1.533e-05	8.338e-05	4.292e-05	0.0001	0	7.915e-05	0	0	0.0005	1.381e-05	3.431e-05	0.0001	3.956e-05	3.946e-05	2.58e-05	5.395e-05	0.0004	1.72e-05	1.133e-05	7.29e-05	3.029e-05	2.441e-05	0	0	0	0	9.43e-05	0	2.94e-05	0	0.0004	0.002	0.72154	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.34	0.67151	M	0.82	0.48142	T	-5.3	0.84387	D	0.828	0.82358	-0.5540	0.66634	T	0.263	0.63394	T	10	0.81147635	0.80427	D	0.106985	0.78285	D	0.393	0.70844	.	.	0.69196344514	0.68931	0.697500058733462	0.69691	0.664657686102	0.59097	0.785151898861	0.79707	T	0.321115	0.69225	T	-0.0633057	0.42389	T	-0.0365619	0.67933	D	0.811041831970215	0.47122	D	0.975769	0.91515	D	0.6916271	0.77599	0.49510565	0.70800	0.6916271	0.77601	0.49510565	0.70801	-8.418	0.63884	D	.	.	0.532	0.66029	A	.	.	4.973573	0.82330	27.8	0.99915498191920993	0.98379	0.77814	0.38305	D	AEFDGBI	0.427715	0.49155	N	0.510431556028567	0.67705	5.117421	0.448170415003909	0.64600	4.718853	0.999999630637608	0.74766	0.766844	0.99359	0	0.573888	0.26702	0	0.851219	0.99655	0	0.714379	0.83352	0	.	.	4.94	4.94	0.64645	1.452000	0.34767	5.773000	0.49755	0.531000	0.24825	1.000000	0.71638	1.000000	0.68203	0.185000	0.21450	0.3102:0.6898:0.0:0.0	12.871	0.57354	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1157.98	37	chr2	241570277	.	C	T	1157.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.81;DP=860;ExcessHet=0.0000;FS=0.819;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.98;MQRankSum=-1.051e+00;QD=11.24;ReadPosRankSum=-5.260e-01;SOR=0.879	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1229	20	0	1	0
chr2	241570278	241570278	G	A	exonic	BOK	.	nonsynonymous SNV	BOK:NM_032515:exon4:c.G503A:p.R168H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.999	D	0.000	D	1.000	D	1.385	L	0.95	T	-0.858	T	0.118	T	0.713	4.551	24.6	4.94	2.269	8.593	18.149	0.301	.	0.0002	0.00439297	0.0028	0.0013	0.0554	0.0047	0	0.0002	0.0155	0.0013	0.0020116	311	154602	rs147943274	0.0011	0.0012	0.0012	0.0010	0.0283	0.0011	0.0011	0.0269	0.0263	0.0004	0.0283	0	0.0095	0	0	5.898e-05	0.0012	0.0006	0.0018	0.0018	0.0018	0.0017	0.0120	0.0016	0.0015	0.0105	0.0100	0.0012	0	0.0120	0	0.0056	0	0	8.819e-05	0.0009	0.0004	0.016	0.51853	D	0.011	0.64786	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.795	0.47270	L	0.95	0.43279	T	-1.7	0.40468	N	0.708	0.71143	-0.8584	0.51377	T	0.118	0.41582	T	10	0.016416788	0.00346	T	.	.	.	0.301	0.62179	.	.	0.697888366788	0.69528	0.6574356301224633	0.65680	0.622408035663	0.56510	0.744563221931	0.73643	T	0.124225	0.44911	T	-0.275478	0.11154	T	-0.146169	0.59581	T	0.0365160176253055	0.03070	T	0.966803	0.87909	D	0.36839417	0.58466	0.24173406	0.49578	0.36839417	0.58466	0.24173406	0.49577	-5.074	0.37632	T	.	.	0.258	0.49295	B	.	.	4.840966	0.79037	27.0	0.99952104043190837	0.99951	0.97899	0.77970	D	AEFDGBI	0.906220	0.85873	D	0.616393434174489	0.74212	6.09428	0.583099527925934	0.73729	6.018302	0.999999999999989	0.74766	0.766844	0.99359	0	0.573888	0.26702	0	0.851219	0.99655	0	0.714379	0.83352	0	.	.	4.94	4.94	0.64645	9.201000	0.94154	9.430000	0.80795	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.181000	0.21328	0.0:0.0:1.0:0.0	18.149	0.89601	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1705.98	37	chr2	241570278	.	G	A	1705.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.560e-01;DP=832;ExcessHet=0.0000;FS=5.241;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.97;MQRankSum=0.00;QD=15.37;ReadPosRankSum=0.276;SOR=1.229	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1229	20	0	1	0
chr2	241633855	241633855	C	T	exonic	THAP4	.	nonsynonymous SNV	THAP4:NM_015963:exon2:c.G302A:p.R101Q,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.968	D	0.242	B	0.016	N	0.843	N	0.895	L	-4.07	D	0.206	D	0.757	D	0.315	5.274	33	3.04	1.154	1.499	8.401	0.284	0.0558348576798	0.0002	.	0.0001	0	0	0	0	0.0002	0	6.072e-05	0.0001035	16	154602	rs201501683	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	2.987e-05	4.473e-05	3.828e-05	0.0004	0	0.0002	0.0002	0.0002	4.638e-05	7.227e-05	7.223e-05	3.854e-05	0.0001	0.0002	3.971e-05	3.127e-05	6.804e-05	5.087e-05	2.412e-05	0	0	0	0	0	0	0.0001	0	0.0002	0.015	0.52492	D	0.011	0.64786	D	0.968	0.56581	D	0.242	0.38699	B	0.015752	0.01424	N	3.218300	0.999402	0.21245	N	2.34	0.67151	M	-4.07	0.96562	D	-0.52	0.16187	N	0.341	0.38232	0.206	0.86006	D	0.757	0.91728	D	10	0.20320198	0.36467	T	0.055835	0.66381	D	0.284	0.60219	.	.	0.900634174194	0.89964	0.4523242517859586	0.45150	1.00385032148	0.74511	0.567533135414	0.48329	T	0.046945	0.27575	T	-0.0837742	0.39098	T	-0.0577884	0.66487	T	0.137637613595483	0.16070	T	0.816118	0.47137	T	0.048826635	0.08572	0.05280777	0.08771	0.048826635	0.08572	0.05280777	0.08771	-3.689	0.19156	T	.	.	0.113	0.22171	B	.	.	3.625760	0.51336	23.1	0.99924519232127706	0.98980	0.46856	0.27853	N	AEFBI	0.189566	0.31681	N	-0.213211741871998	0.32591	1.839649	-0.257240147547787	0.29522	1.65469	0.999936116465331	0.46732	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.93	3.04	0.34171	1.581000	0.36167	3.167000	0.36595	0.599000	0.40250	0.427000	0.26385	0.677000	0.26099	0.795000	0.37519	0.0:0.7604:0.1567:0.083	8.401	0.31747	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1343.98	42	chr2	241633855	.	C	T	1343.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=897;ExcessHet=0.0000;FS=2.696;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.15;ReadPosRankSum=1.61;SOR=0.439	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr2	241678520	241678520	C	T	exonic	DTYMK	.	nonsynonymous SNV	DTYMK:NM_001320902:exon3:c.G331A:p.G111R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.006	B	0.007	B	0.207	N	1.000	N	0.035	N	1.0	T	-1.057	T	0.030	T	0.337	-0.841	0.570	-10.1	-3.376	-0.120	6.262	0.029	0.00140212359867	.	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs770798383	9.577e-06	1.026e-05	9.529e-06	9.626e-06	1.159e-05	5.56e-06	4.35e-06	5.75e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	1.656e-05	1.159e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.525	0.07140	T	0.521	0.10429	T	0.004	0.12183	B	0.003	0.08700	B	0.207286	0.16451	N	0.658943	1	0.08975	N	0.375	0.12094	N	1.0	0.41392	T	-0.83	0.22727	N	0.122	0.11340	-1.0570	0.12517	T	0.030	0.12892	T	10	0.056549966	0.06356	T	0.001402	0.02062	T	0.045	0.12272	0.429	0.47680	0.274431252636	0.27063	0.30412683750699876	0.30325	0.324506436646	0.34611	0.322048723698	0.13732	T	0.117323	0.43732	T	-0.288385	0.09799	T	-0.544364	0.17869	T	0.0202120886029221	0.00721	T	0.738226	0.35599	T	0.0966057	0.22757	0.06306565	0.12437	0.0966057	0.22756	0.06306565	0.12437	-3.725	0.19688	T	.	.	0.125	0.26419	B	.	.	-1.374652	0.00379	0.007	0.69556503133308745	0.09010	0.03794	0.09121	N	AEFBCI	0.062113	0.11920	N	-1.84483279675278	0.00444	0.01911525	-2.02771482007791	0.00267	0.01179967	0.999827516793063	0.43622	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.05	-10.1	0.00330	-0.129000	0.10493	-4.775000	0.01992	-2.739000	0.00200	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0819:0.4526:0.1799:0.2856	6.262	0.20114	970	0.06235	Thymidylate kinase-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1319.98	37	chr2	241678520	.	C	T	1319.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.55;DP=977;ExcessHet=0.0000;FS=4.512;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=0.350;SOR=0.559	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,101,1248	20	0	1	0
chr2	241678566	241678566	C	T	exonic	DTYMK	.	nonsynonymous SNV	DTYMK:NM_001320903:exon3:c.G251A:p.R84Q,	.	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.631	T	0.160	T	.	-0.887	0.465	-10.1	-2.819	-3.171	11.796	0.042	.	.	0.000798722	0.0007	9.623e-05	0.0002	0.0005	0	0.0001	0	0.0038	0.0005692	88	154602	rs563182182	0.0003	0.0003	0.0002	0.0003	0.0032	0.0002	0.0002	0.0029	0.0027	0.0001	8.944e-05	0	0.0005	0	0.0017	3.147e-05	0.0006	0.0032	0.0002	0.0002	0.0002	0.0003	0.0027	0.0002	0.0001	0.0016	0.0013	4.811e-05	0	0.0003	0	0.0017	0	0	8.819e-05	0.0005	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1779.98	37	chr2	241678566	.	C	T	1779.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.670e-01;DP=1000;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=-4.210e-01;SOR=0.669	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,101,1248	20	0	1	0
chr2	241682798	241682798	C	T	splicing	DTYMK	NM_001320905:exon3:c.356+1G>A	.	.	.	.	.	.	.	.	.	.	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	-0.439	1.962	0.118	0.191	0.416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.727e-05	1.749e-05	0	6.362e-05	.	0	0	.	.	0	0	0	0	0	0	0	0.0008	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	206.34	20	chr2	241682798	.	C	T	206.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.09;DP=447;ExcessHet=0.0000;FS=4.545;InbreedingCoeff=-0.0257;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=9.38;ReadPosRankSum=-5.130e-01;SOR=1.911	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,726	19	0	1	1
chr2	241735267	241735267	C	G	exonic	D2HGDH	.	nonsynonymous SNV	D2HGDH:NM_152783:exon2:c.C43G:p.R15G,	D-2-hydroxyglutaric aciduria, Autosomal recessive	.	5	1511	6	0	0	6	0.00198151	.	.	168054	D-2-hydroxyglutaric_aciduria_1|not_specified|not_provided	MONDO:MONDO:0024554,MedGen:C3152055,OMIM:600721,Orphanet:79315|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.29	T	0.0	B	0.0	B	0.121	U	1.000	N	0.345	N	-2.02	D	-0.833	T	0.066	T	0.263	1.851	12.15	0.254	-0.079	-0.369	4.792	0.276	.	.	0.0191693	0.0161	0.0175	0.2982	0.1391	0	0.0078	0	0.0019	0.0085186	1317	154602	rs4675887	0.0058	0.0064	0.0062	0.0054	0.1083	0.0057	0.0057	0.1054	0.1042	0.0014	0.1083	4.172e-05	0.0680	0.0125	0.0010	0.0009	0.0070	0.0017	0.0084	0.0084	0.0075	0.0094	0.0509	0.0080	0.0079	0.0458	0.0439	0.0026	0	0.0458	0.0003	0.0509	0.0095	0	0.0010	0.0104	0.0027	0.049	0.39820	D	0.014	0.62352	D	0.0	0.02946	B	0.0	0.01387	B	0.120552	0.02721	U	3.243140	1	0.08975	N	1.355	0.33814	L	-2.02	0.85542	D	-1.03	0.27052	N	0.136	0.13341	-0.8325	0.53139	T	0.066	0.27087	T	10	0.001637876	0.00020	T	.	.	.	0.276	0.59253	.	.	.	.	0.5978447009045614	0.59715	0.511229259556	0.49206	0.592467665672	0.51843	T	0.04106	0.25735	T	-0.426555	0.01555	T	-0.288777	0.45900	T	0.00450277512470698	0.00048	T	0.480052	0.14488	T	0.10085263	0.23818	0.07943044	0.17880	0.07877462	0.17960	0.07710516	0.17144	-5.275	0.39695	T	.	.	0.068	0.02829	B	.	.	1.481748	0.19071	14.08	0.90945377868169164	0.20194	0.16420	0.19381	N	AEFDBHCI	0.052199	0.09295	N	-1.17749630334683	0.05341	0.2432584	-1.22698236685597	0.05480	0.2612293	0.999999967778004	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.372554	0.06265	0	.	.	2.6	0.254	0.14814	0.861000	0.27540	0.519000	0.19148	0.318000	0.19305	0.229000	0.24633	0.001000	0.17328	0.035000	0.13729	0.4356:0.3539:0.2104:0.0	4.792	0.12621	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	411.98	33	chr2	241735267	.	C	G	411.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.434;DP=743;ExcessHet=0.0000;FS=11.903;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.13;ReadPosRankSum=-1.720e-01;SOR=3.556	GT:AD:DP:GQ:PL	0/0:36,0:36:90:0,90,1350	20	0	1	0
chr2	241735300	241735300	C	T	exonic	D2HGDH	.	nonsynonymous SNV	D2HGDH:NM_152783:exon2:c.C76T:p.R26W,	D-2-hydroxyglutaric aciduria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	719782	D-2-hydroxyglutaric_aciduria_1|D2HGDH-related_disorder|Inborn_genetic_diseases	MONDO:MONDO:0024554,MedGen:C3152055,OMIM:600721,Orphanet:79315|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.016	B	0.003	B	0.020	N	1.000	N	0.345	N	-2.09	D	-0.666	T	0.342	T	0.199	1.454	10.81	-0.957	-0.127	1.607	1.722	0.248	0.174949077921	.	0.000199681	9.864e-05	0.0022	0	0	0	0	0	0	0.0001035	16	154602	rs146696295	0.0001	0.0001	0.0001	0.0001	0.0031	9.84e-05	9.272e-05	0.0026	0.0024	0.0031	0.0001	0	0	0	0	6.504e-06	0.0003	0.0004	0.0009	0.0009	0.0010	0.0008	0.0030	0.0007	0.0007	0.0025	0.0024	0.0030	0	0.0001	0	0	0	0	1.47e-05	0.0009	0.0006	0.014	0.53172	D	0.019	0.59159	D	0.016	0.17332	B	0.003	0.08700	B	0.019647	0.01515	N	2.734200	1	0.08975	N	1.24	0.30952	L	-2.09	0.86077	D	-1.59	0.38345	N	0.224	0.25130	-0.6656	0.62027	T	0.342	0.70778	T	10	0.0068514645	0.00156	T	0.174949	0.85118	D	0.248	0.55615	.	.	0.491660673884	0.48798	0.5958561222149563	0.59515	0.384099605247	0.39718	0.514772117138	0.40891	T	0.033211	0.22818	T	-0.419521	0.01722	T	-0.376545	0.36126	T	0.0213660206028269	0.00839	T	0.688631	0.29780	T	0.054411598	0.10434	0.041157067	0.04614	0.04731023	0.08065	0.038480762	0.03725	-6.073	0.46886	T	.	.	0.119	0.24532	B	.	.	1.146140	0.15336	11.77	0.96082170509860221	0.28656	0.05496	0.11382	N	AEFBHCIJ	0.038621	0.05492	N	-1.46022811257665	0.02138	0.09406557	-1.54025073431667	0.02043	0.09342206	0.999999877141602	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.249971	0.05119	0	.	.	1.4	-0.957	0.09822	-1.143000	0.03311	-0.784000	0.07442	-1.943000	0.00489	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3307:0.4209:0.0:0.2484	1.722	0.02737	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1155.98	33	chr2	241735300	.	C	T	1155.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.510e-01;DP=817;ExcessHet=0.0000;FS=4.900;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.10;ReadPosRankSum=-1.916e+00;SOR=0.307	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr2	241803754	241803754	C	T	exonic	GAL3ST2	.	nonsynonymous SNV	GAL3ST2:NM_022134:exon4:c.C785T:p.A262V,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.001	B	0.004	B	0.678	N	1.000	N	0.345	N	2.37	T	-1.059	T	0.026	T	0.065	1.334	10.38	2.58	2.238	1.010	8.571	0.068	0.00236364218773	0.0007	0.000998403	0.0019	0.005	0	0	0	0.0013	0	0.0021	0.0006274	97	154602	rs200028725	0.0028	0.0027	0.0028	0.0027	0.0033	0.0027	0.0027	0.0032	0.0031	0.0002	0.0016	4.154e-05	0	0.0001	0.0002	0.0033	0.0031	0.0012	0.0017	0.0017	0.0019	0.0016	0.0028	0.0016	0.0015	0.0025	0.0024	0.0006	0	0.0024	0	0	9.445e-05	0	0.0028	0.0014	0.0019	0.178	0.22138	T	0.302	0.20228	T	0.001	0.07471	B	0.004	0.10090	B	0.677553	0.06073	N	1.184440	1	0.08975	N	0.45	0.12780	N	2.37	0.15964	T	-1.27	0.31981	N	0.156	0.16168	-1.0587	0.12083	T	0.026	0.11353	T	10	0.0050794184	0.00110	T	0.002364	0.04590	T	0.068	0.19811	.	.	0.0401082797425	0.02173	0.1312809929180252	0.13053	0.453220319075	0.45017	0.751231193542	0.74627	T	0.008389	0.07706	T	-0.66054	0.00062	T	-0.721741	0.04712	T	0.0134622719303566	0.00245	T	0.242376	0.03494	T	0.08406446	0.19440	0.17667465	0.40218	0.08406446	0.19439	0.17667465	0.40217	-5.828	0.44818	T	0.2361608698934675	0.31978	0.122	0.25495	B	.	.	1.450123	0.18712	13.88	0.98414755395322007	0.41212	0.14085	0.18214	N	ALL	0.095077	0.19215	N	-0.819656349453087	0.12809	0.6267576	-0.78695306624032	0.14815	0.7760724	0.999999887906829	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.54	2.58	0.30011	0.612000	0.23979	-0.271000	0.10347	0.524000	0.24156	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2405:0.6371:0.1224:0.0	8.571	0.32728	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1201.98	33	chr2	241803754	.	C	T	1201.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.270e-01;DP=816;ExcessHet=0.0000;FS=3.674;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=0.023;SOR=1.112	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1302	20	0	1	0
chr2	241815108	241815108	C	T	exonic	NEU4	.	nonsynonymous SNV	NEU4:NM_001167599:exon3:c.C457T:p.R153W	.	.	.	.	.	.	.	.	.	.	.	2200882	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.99	D	0.002	N	1.000	N	2.63	M	-2.52	D	-0.056	T	0.748	D	0.491	3.066	16.24	1.13	0.894	1.765	2.481	0.381	0.0586995923795	.	.	5.134e-05	0	0	0	0	9.003e-05	0	0	3.23e-05	5	154602	rs780252296	7.589e-05	7.661e-05	7.383e-05	7.799e-05	9.473e-05	6.418e-05	5.965e-05	7.962e-05	7.44e-05	0	0	0	0	0	0	9.473e-05	5.079e-05	1.197e-05	4.6e-05	4.597e-05	7.709e-05	1.345e-05	6.54e-05	2.109e-05	1.527e-05	1.972e-05	1.125e-05	4.829e-05	0	6.54e-05	0	0	0	0	5.881e-05	0	0	0.006	0.63226	D	0.014	0.62352	D	1.0	0.90584	D	0.99	0.78936	D	0.002222	0.36970	N	0.267246	1	0.08975	N	3.215	0.89331	M	-2.52	0.89363	D	-4.26	0.77308	D	0.356	0.41162	-0.0557	0.81085	T	0.748	0.91391	D	10	0.532533	0.63265	D	0.059	0.67410	D	0.381	0.69863	0.519	0.62066	0.857149403248	0.85576	0.7203839926266576	0.71981	0.0549770881719	0.06090	0.720967411995	0.70187	T	0.944098	0.99144	D	0.0921544	0.63430	D	-0.105403	0.62976	T	0.710439622402191	0.41222	D	0.874313	0.58483	D	0.17861782	0.38891	0.11358199	0.27413	0.17861782	0.38891	0.11358199	0.27412	-7.704	0.59035	D	.	.	0.130	0.30971	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.777793	0.54301	23.5	0.99825439522625359	0.90764	0.16988	0.19639	N	AEFDBCI	0.223465	0.34782	N	0.145357353323021	0.48592	3.069614	-0.0517422741216057	0.37415	2.190372	0.983656385180592	0.30594	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	4.57	1.13	0.19758	1.933000	0.39783	-0.031000	0.12795	-0.939000	0.02101	0.029000	0.20367	0.000000	0.08366	0.016000	0.10718	0.4335:0.3442:0.118:0.1044	2.481	0.04307	958	0.09170	Sialidase;Sialidase;Sialidase;.;Sialidase;.;Sialidase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	484.98	33	chr2	241815108	.	C	T	484.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.944e+00;DP=743;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.28;ReadPosRankSum=-3.160e-01;SOR=0.765	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1327	20	0	1	0
chr2	241816873	241816873	C	G	exonic	NEU4	.	nonsynonymous SNV	NEU4:NM_001167599:exon4:c.C1319G:p.P440R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.203	B	0.048	B	0.003	N	0.807	D	0.44	N	-1.75	D	-0.818	T	0.243	T	0.152	-0.255	2.773	1.31	0.741	0.799	5.032	0.088	0.00778873832935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	4.104e-06	1.363e-06	6.883e-06	0.0002	1.48e-06	9.7e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	4.976e-05	0	6.564e-06	6.561e-06	0	1.342e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.319	0.22486	T	0.179	0.30241	T	0.077	0.29776	B	0.02	0.24975	B	0.003344	0.35069	N	0.280976	0.807257	0.34591	D	1.765	0.45800	L	-1.75	0.83495	D	-2.39	0.52612	N	0.097	0.07811	-0.8182	0.54046	T	0.243	0.61201	T	10	0.08625284	0.14642	T	0.007789	0.20668	T	0.088	0.25558	0.404	0.43573	0.56380075071	0.56042	0.35453584687028317	0.35367	0.052570722875	0.05790	0.51746571064	0.41270	T	0.349124	0.71702	T	-0.0943941	0.37351	T	-0.373367	0.36496	T	0.149863287806511	0.17092	T	0.516848	0.16688	T	0.03865502	0.05192	0.07014785	0.14870	0.03865502	0.05192	0.07014785	0.14870	-4.44	0.30096	T	.	.	0.076	0.09627	B	.;.;.;.;.	.;.;.;.;.	0.721555	0.10909	7.577	0.86790973566179608	0.16775	0.20508	0.21067	N	AEFDBCI	0.243865	0.36507	N	-0.967944121812401	0.09294	0.4392821	-0.978364238583453	0.10271	0.5162681	0.970661419857482	0.29225	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.24	1.31	0.20837	0.772000	0.26309	0.579000	0.19686	-0.884000	0.02433	0.360000	0.25842	0.000000	0.08366	0.000000	0.00833	0.0:0.5693:0.1943:0.2364	5.032	0.13757	958	0.09170	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1443.98	58	chr2	241816873	.	C	G	1443.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.795;DP=1116;ExcessHet=0.0000;FS=1.037;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=24.47;ReadPosRankSum=1.16;SOR=0.984	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,120,1800	20	0	1	0
chr2	241872984	241872984	G	A	exonic	RTP5	.	nonsynonymous SNV	RTP5:NM_173821:exon2:c.G1429A:p.A477T,	.	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.005	B	0.002	B	.	.	1.000	N	0	N	1.79	T	-1.018	T	0.030	T	0.146	3.353	17.29	2.14	0.276	0.013	5.249	0.045	0.00159870751407	8e-05	.	0.0006	0	0.0042	0	0	0.0003	0.0068	0.0001	0.0005175	80	154602	rs201217872	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0002	0.0018	0.0016	2.987e-05	0.0021	0.0029	0	1.909e-05	0.0003	5.666e-05	0.0005	5.797e-05	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	9.238e-05	0.0002	0.0001	2.412e-05	0	0.0004	0.0035	0	0	0	5.88e-05	0.0005	0	0.002	0.72154	D	0.038	0.51421	D	0.005	0.12996	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.79	0.25509	T	-0.04	0.07590	N	0.061	0.03283	-1.0176	0.24495	T	0.030	0.12760	T	9	0.004478723	0.00092	T	0.001599	0.02574	T	0.045	0.12272	.	.	0.0297737177859	0.01360	0.06525795777817359	0.06464	0.166297209655	0.18766	0.32952272892	0.14862	T	0.008417	0.07732	T	-0.590048	0.00168	T	-0.626815	0.10657	T	0.0157341845755499	0.00364	T	0.369963	0.08710	T	0.04785745	0.08248	0.08695346	0.20181	0.04785745	0.08247	0.08695346	0.20180	-2.693	0.07245	T	.	.	0.091	0.13268	B	.	.	1.601722	0.20476	14.77	0.97439302967786001	0.33972	0.00653	0.02839	N	AEFBI	0.017858	0.00498	N	-1.39023255595696	0.02729	0.1209104	-1.40866917473695	0.03165	0.1470824	0.860097856226808	0.25209	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.14	2.14	0.26518	-0.146000	0.10233	0.796000	0.21614	-0.191000	0.09375	0.003000	0.16062	0.022000	0.20871	0.002000	0.04165	0.0:0.0:0.3037:0.6963	5.249	0.14829	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1411.98	118	chr2	241872984	.	G	A	1411.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=894;ExcessHet=0.0000;FS=0.682;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=0.316;SOR=0.780	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1409	20	0	1	0
chr3	328292	328292	G	T	exonic	CHL1	.	nonsynonymous SNV	CHL1:NM_001253388:exon3:c.G323T:p.R108L	.	.	.	.	.	.	.	.	.	.	.	1092369	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.065	M	1.11	T	0.089	D	0.512	D	0.965	5.007	29.4	5.02	2.329	5.337	16.521	0.504	0.106274550834	.	.	9.076e-05	0	0	0	0	0	0	0.0007	7.76e-05	12	154602	rs369767790	4.863e-05	4.857e-05	3.271e-05	6.471e-05	0.0005	3.931e-05	3.609e-05	0.0004	0.0003	0	2.243e-05	0	0	0	0	2.341e-05	3.317e-05	0.0005	3.943e-05	3.938e-05	5.144e-05	2.688e-05	0.0004	1.716e-05	1.13e-05	7.29e-05	3.029e-05	0	0	0	0	0	0	0	5.885e-05	0	0.0004	0.004	0.78490	D	0.006	0.72224	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.11	0.71895	T	-4.66	0.87223	D	0.858	0.87590	0.089	0.83978	D	0.512	0.81690	D	10	0.6208484	0.67969	D	0.106275	0.78180	D	0.504	0.78600	0.677	0.81496	0.859679227615	0.85832	0.8002733302462346	0.79981	0.0678554435599	0.07595	0.45294302702	0.32346	T	0.340213	0.70926	T	0.0775779	0.61756	D	0.231143	0.84725	D	0.824852108955383	0.48135	D	0.875312	0.73308	D	0.62035435	0.73782	0.5404908	0.73443	0.66064477	0.75935	0.5336625	0.73054	-11.061	0.80845	D	.	.	0.658	0.72470	P	.;.;.;.	.;.;.;.	4.376853	0.67438	25.1	0.99844372131919579	0.92403	0.97137	0.72907	D	AEFI	0.752807	0.69319	D	0.726584493783711	0.81377	7.507494	0.693899886320941	0.81917	7.639698	0.987700203983954	0.31324	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.02	5.02	0.66742	5.433000	0.66269	4.963000	0.46353	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	16.521	0.84161	969	0.06854	.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	987.98	34	chr3	328292	.	G	T	987.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.157e+00;DP=812;ExcessHet=0.0000;FS=2.508;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.82;ReadPosRankSum=-2.520e-01;SOR=0.453	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1225	20	0	1	0
chr3	3140570	3140570	C	T	exonic	TRNT1	.	nonsynonymous SNV	TRNT1:NM_001302946:exon4:c.C403T:p.H135Y	Retinitis pigmentosa and erythrocytic microcytosis, Autosomal recessive;Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1042133	Congenital_sideroblastic_anemia-B-cell_immunodeficiency-periodic_fever-developmental_delay_syndrome	MONDO:MONDO:0014487,MedGen:C4015172,OMIM:616084,Orphanet:369861	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.932	P	0.817	P	0.000	D	1.000	D	2.93	M	0.85	T	-0.319	T	0.341	T	0.751	5.512	35	5.71	2.687	7.642	19.858	0.400	0.0406413520802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.45756	D	0.032	0.53426	D	0.932	0.51990	P	0.817	0.58928	P	0.000001	0.62929	D	0.109289	1	0.81001	D	2.08	0.57402	M	0.81	0.48460	T	-5.39	0.85027	D	0.806	0.80180	-0.3192	0.74444	T	0.341	0.70680	T	10	0.76575863	0.76690	D	0.040641	0.59486	D	0.400	0.71401	0.538	0.64874	0.526027142273	0.52249	0.8721265256206102	0.87178	0.0174109686577	0.01692	0.742881536484	0.73397	T	0.714136	0.91869	D	0.0971508	0.63984	D	-0.098226	0.63535	T	0.963108956813812	0.66561	D	0.981302	0.93576	D	0.76220375	0.81583	0.76489645	0.86112	0.76220375	0.81585	0.76489645	0.86113	-9.135	0.69513	D	0.5217730490530577	0.59393	0.315	0.63609	B	.;.	.;.	4.801140	0.78012	26.8	0.9982263207090486	0.90502	0.98868	0.87925	D	AEFBI	0.877775	0.80262	D	0.755510373084729	0.83265	7.971913	0.771041356260216	0.87717	9.320068	0.999999999999962	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.71	5.71	0.89031	7.729000	0.83815	7.514000	0.59661	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.858	0.96769	946	0.12043	Poly A polymerase, head domain|Poly A polymerase, head domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1448.98	34	chr3	3140570	.	C	T	1448.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.190e-01;DP=847;ExcessHet=0.0000;FS=0.615;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.20;ReadPosRankSum=0.897;SOR=0.756	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1140	20	0	1	0
chr3	4313174	4313174	A	G	exonic	SETMAR	.	nonsynonymous SNV	SETMAR:NM_001243723:exon2:c.A433G:p.K145E	.	.	435	1083	3	1	0	5	0.00230309	.	.	2203111	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.792	P	0.137	B	.	.	1.000	N	1.955	M	-1.48	T	-0.305	T	0.619	D	0.351	2.412	14.02	1.32	-0.016	0.113	16.098	0.346	0.114256043569	.	.	4.956e-05	0	0	0	0	3.002e-05	0	0.0002	3.88e-05	6	154602	rs779189977	1.71e-05	1.71e-05	1.225e-05	2.2e-05	0.0014	1.174e-05	9.92e-06	0.0007	0.0005	0	0	0	0	0	0.0014	5.396e-06	3.312e-05	0.0001	1.97e-05	1.968e-05	1.285e-05	2.685e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0.0034	1.47e-05	0	0.0002	0.007	0.68238	D	0.019	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	2.205	0.62170	M	-2.63	0.90083	D	-1.02	0.36980	N	0.407	0.44761	-0.3046	0.74856	T	0.619	0.86547	D	9	0.22900897	0.39819	T	0.114256	0.79304	D	0.346	0.66769	.	.	0.791053330979	0.78911	0.38218366357054334	0.38133	0.0369096761219	0.03911	0.308303982019	0.11651	T	0.038158	0.24739	T	-0.121799	0.32831	T	-0.153053	0.58973	T	0.116224763155459	0.14056	T	0.889911	0.83579	D	0.33849362	0.56159	0.2313799	0.48267	0.33849362	0.56159	0.2313799	0.48266	-10.224	0.75241	D	.	.	0.201	0.55876	B	.;.;.	.;.;.	2.956882	0.39368	20.9	0.99490197094641075	0.67403	0.69500	0.34212	D	AEFBI	0.145130	0.26827	N	-0.291865420866623	0.29461	1.633981	-0.254242135982768	0.29626	1.661276	0.784309030989033	0.23901	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.662433	0.64102	0	.	.	5.18	1.32	0.20897	0.112000	0.15312	0.329000	0.17264	0.756000	0.94297	0.779000	0.29461	0.743000	0.26496	0.693000	0.33928	0.3368:0.6631:0.0:0.0	16.098	0.80948	937	0.14592	SET domain|SET domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1481.98	121	chr3	4313174	.	A	G	1481.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.503e+00;DP=994;ExcessHet=0.0000;FS=5.908;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.38;ReadPosRankSum=0.207;SOR=0.852	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr3	4663132	4663132	G	A	exonic	ITPR1	.	nonsynonymous SNV	ITPR1:NM_001168272:exon15:c.G1435A:p.V479I	Gillespie syndrome;Spinocerebellar ataxia 15, Autosomal dominant;Spinocerebellar ataxia 29, congenital nonprogressive, Autosomal dominant	.	0	1504	14	4	0	22	0.00726073	.	.	294804	not_specified|not_provided|Autosomal_dominant_cerebellar_ataxia	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0020380,MedGen:C4087347,OMIM:PS164400,Orphanet:99	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.44	T	0.017	B	0.067	B	0.000	D	1.000	D	2.015	M	-3.69	D	0.463	D	0.762	D	0.279	3.645	18.53	4.72	2.456	7.771	17.896	0.370	0.0599945184088	0.0051	0.00239617	0.0049	0.0007	0.0020	0	0.0020	0.0064	0.0067	0.0068	0.004573	707	154602	rs41289628	0.0050	0.0050	0.0048	0.0051	0.0069	0.0049	0.0048	0.0064	0.0062	0.0007	0.0028	0.0096	2.519e-05	0.0022	0.0068	0.0052	0.0050	0.0069	0.0041	0.0041	0.0040	0.0042	0.0077	0.0038	0.0037	0.0057	0.0055	0.0008	0	0.0041	0.0101	0	0.0021	0.0102	0.0062	0.0038	0.0077	0.192	0.21467	T	0.214	0.26714	T	0.001	0.07471	B	0.021	0.19346	B	0.000003	0.62929	D	0.059666	0.999999	0.81001	D	0.75	0.19020	N	-3.69	0.95317	D	-0.89	0.24026	N	0.189	0.24135	0.463	0.90018	D	0.762	0.91901	D	10	0.009360462	0.00211	T	0.059995	0.67852	D	0.370	0.68930	.	.	0.708692949378	0.70615	0.3552037144996847	0.35434	0.604812756181	0.55401	0.632503271103	0.57501	T	0.676252	0.90445	D	-0.205022	0.20083	T	-0.0636908	0.66073	T	0.0141147048771662	0.00275	T	0.950605	0.81072	D	0.102727726	0.24277	0.10690388	0.25727	0.0894288	0.20895	0.11964186	0.28875	-8.74	0.66440	D	0.270347362583344	0.36379	0.093	0.14797	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.000332	0.58941	24.0	0.99651111488804855	0.77317	0.98385	0.82238	D	AEFGBI	0.809970	0.73334	D	0.111021091355861	0.46976	2.929913	0.253818259429494	0.52866	3.45872	0.999999999999978	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.72	4.72	0.59248	8.098000	0.89376	11.876000	0.98705	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	17.896	0.88806	952	0.10565	.;.;.;.;.;.;RIH domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1929.98	36	chr3	4663132	.	G	A	1929.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.290e+00;DP=857;ExcessHet=0.0000;FS=1.333;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.79;ReadPosRankSum=-5.840e-01;SOR=0.571	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1236	20	0	1	0
chr3	4982904	4982904	C	T	exonic	BHLHE40	.	nonsynonymous SNV	BHLHE40:NM_003670:exon5:c.C451T:p.R151W,	.	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.99	D	0.948	D	0.000	D	0.993	D	1.1	L	0.82	T	-0.802	T	0.178	T	0.645	4.554	24.6	3.86	1.443	4.371	8.320	0.296	0.0567479942307	7.7e-05	.	0.0001	0.0002	0.0002	0	0	0.0001	0	0	0.0001035	16	154602	rs371986656	8.893e-05	8.893e-05	8.303e-05	9.488e-05	0.0026	7.622e-05	7.167e-05	0.0016	0.0013	2.987e-05	8.944e-05	0.0003	0	1.872e-05	0.0026	6.655e-05	0.0003	0.0001	0.0001	0.0001	0.0001	0.0001	0.0002	8.673e-05	7.263e-05	7.908e-05	5.994e-05	7.249e-05	0	0	0.0017	0	0	0	0.0001	0	0.0002	0.0	0.91255	D	0.002	0.79402	D	0.99	0.63424	D	0.948	0.68536	D	0.000004	0.62929	D	0.102414	0.992635	0.41700	D	1.1	0.28011	L	0.82	0.48142	T	-4.36	0.76980	D	0.43	0.46928	-0.8023	0.55009	T	0.178	0.52412	T	10	0.35688382	0.52417	T	0.056748	0.66716	D	0.296	0.61616	.	.	0.439353512205	0.43558	0.22363461776965263	0.22278	2.45932965126	0.97411	0.591836094856	0.51753	T	0.475857	0.80673	T	-0.144576	0.29163	T	-0.208781	0.53813	T	0.239876892996844	0.22414	T	0.966903	0.87955	D	0.5697705	0.71048	0.46729422	0.69095	0.5697705	0.71049	0.46729422	0.69095	-9.727	0.72261	D	.	.	0.279	0.51254	B	.	.	5.504788	0.91624	32	0.99926423018357302	0.99103	0.83906	0.42997	D	AEFDBHCIJ	0.729369	0.67710	D	0.506603484544409	0.67479	5.087161	0.510566766554533	0.68701	5.256397	0.999999982044027	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.471687	0.07189	1	0.657601	0.63696	0	.	.	5.86	3.86	0.43689	4.390000	0.59409	4.061000	0.41587	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.4677:0.4195:0.1127:0.0	8.320	0.31283	946	0.12043	Orange domain|Orange domain|Orange domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	944.98	34	chr3	4982904	.	C	T	944.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.44;DP=819;ExcessHet=0.0000;FS=1.640;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.09;ReadPosRankSum=0.696;SOR=0.895	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr3	8548884	8548884	C	T	exonic	LMCD1	.	nonsynonymous SNV	LMCD1:NM_001278233:exon3:c.C485T:p.P162L	.	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.002	B	0.002	B	0.041	N	0.987	D	0.55	N	0.83	T	-0.828	T	0.239	T	0.137	0.949	8.868	3.86	0.748	0.588	9.191	0.042	0.0203224201898	0.0002	.	9.846e-05	0	0	0	0	0.0002	0	0	7.12e-05	11	154602	rs371191776	0.0001	0.0001	0.0001	0.0001	0.0015	9.3e-05	8.756e-05	0.0007	0.0005	0	0.0003	0	0	0	0.0015	0.0001	0.0001	4.16e-05	0.0001	0.0001	0.0001	0.0001	0.0010	8.167e-05	6.724e-05	0.0006	0.0005	0	0	0.0010	0	0	0	0	4.409e-05	0.0005	0	0.065	0.43393	T	0.114	0.36765	T	0.002	0.09854	B	0.001	0.06944	B	0.040768	0.24022	N	0.398398	0.979058	0.40565	D	0.205	0.09354	N	0.82	0.48460	T	-1.2	0.30555	N	0.16	0.23758	-0.8276	0.53454	T	0.239	0.60655	T	10	0.053646237	0.05588	T	0.020322	0.42890	T	0.042	0.11227	.	.	0.746043463837	0.74375	0.4226704773506006	0.42184	0.307934261036	0.33093	0.37691834569	0.21819	T	0.026	0.19543	T	-0.325651	0.06446	T	-0.407992	0.32457	T	0.0323003269731998	0.02355	T	0.758124	0.47762	T	0.108259045	0.25598	0.063764624	0.12678	0.108259045	0.25598	0.063764624	0.12677	-4.14	0.25877	T	.	.	0.075	0.09772	B	.;.;.;.	.;.;.;.	2.007807	0.25509	16.79	0.97597979335801144	0.34831	0.41272	0.26620	N	AEFBI	0.117038	0.22945	N	-0.687848244857821	0.16367	0.8332358	-0.61220157097311	0.19180	1.027894	0.999316940162114	0.39113	0.693126	0.56070	0	0.588015	0.36545	0	0.659464	0.59346	0	0.635551	0.53088	0	.	.	5.64	3.86	0.43689	0.753000	0.26042	1.305000	0.25500	0.599000	0.40250	0.088000	0.22533	0.725000	0.26378	0.147000	0.20199	0.0:0.8331:0.0:0.1669	9.191	0.36359	907	0.22727	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1201.98	40	chr3	8548884	.	C	T	1201.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.02;DP=826;ExcessHet=0.0000;FS=2.721;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=1.34;SOR=1.040	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr3	8941790	8941790	T	G	exonic	RAD18	.	nonsynonymous SNV	RAD18:NM_020165:exon5:c.A281C:p.Q94P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.962	D	0.51	P	0.001	N	0.813	D	2.015	M	1.81	T	-0.955	T	0.073	T	0.623	2.205	13.33	3.71	0.882	1.784	7.023	0.132	0.011813036832	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1222683344	3.428e-06	3.42e-06	4.092e-06	2.757e-06	2.702e-06	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.702e-06	3.322e-05	0	1.314e-05	1.313e-05	0	2.69e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.009	0.57480	D	0.063	0.45110	T	0.962	0.55554	D	0.51	0.47925	P	0.001460	0.38980	N	0.261653	0.812926	0.34666	D	2.56	0.74772	M	1.81	0.25182	T	-3.42	0.67241	D	0.496	0.52918	-0.9554	0.40024	T	0.073	0.29675	T	10	0.5814071	0.65870	D	0.011813	0.29802	T	0.132	0.35948	0.467	0.53891	0.252681307341	0.24864	0.6913469126566355	0.69074	0.146173074098	0.16499	0.313137412071	0.12381	T	0.330225	0.70044	T	-0.0427299	0.45541	T	-0.283669	0.46428	T	0.54038417339325	0.34118	D	0.721228	0.33447	T	0.76707065	0.81872	0.6046265	0.77019	0.76707065	0.81874	0.6046265	0.77020	-10.002	0.73925	D	.	.	0.135	0.29255	B	.	.	3.242209	0.44262	21.9	0.99390261428611959	0.62292	0.87403	0.46932	D	AEFBI	0.143301	0.26596	N	0.136079112449471	0.48154	3.031	0.0709022350058876	0.43093	2.618281	0.999136232462682	0.38535	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.86	3.71	0.41733	1.743000	0.37883	2.128000	0.30762	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.147000	0.20199	0.0:0.1008:0.0:0.8992	7.023	0.24105	786	0.46839	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	598.98	34	chr3	8941790	.	T	G	598.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.990e-01;DP=724;ExcessHet=0.0000;FS=2.926;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.93;ReadPosRankSum=0.316;SOR=1.270	GT:AD:DP:GQ:PL	0/1:21,22:43:99:613,0,575	20	0	1	0
chr3	9124908	9124908	G	A	exonic	SRGAP3	.	nonsynonymous SNV	SRGAP3:NM_001033117:exon2:c.C77T:p.T26M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.998	D	0.877	P	0.000	D	1.000	D	0.345	N	2.21	T	-1.096	T	0.050	T	0.201	1.512	11.01	4.82	2.231	3.609	13.289	0.105	0.0262079366832	.	.	3.323e-05	0	0	0.0001	0	0	0	0.0002	2.59e-05	4	154602	rs746793277	1.984e-05	2.052e-05	1.225e-05	2.75e-05	0.0001	1.392e-05	1.203e-05	7.124e-05	5.482e-05	2.987e-05	0	0	0	0	0	1.439e-05	1.656e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.25	0.24123	T	0.963	0.55692	D	0.392	0.44215	B	0.000017	0.62929	D	0.111376	0.999997	0.58761	D	0	0.06538	N	2.21	0.18414	T	-1.06	0.27669	N	0.275	0.34659	-1.0956	0.04667	T	0.050	0.21143	T	10	0.22738895	0.39618	T	0.026208	0.49134	D	0.105	0.29889	0.56	0.67958	0.0675242888579	0.06100	0.13420112700493522	0.13344	1.04726596499	0.75992	0.537755727768	0.44128	T	0.202518	0.56071	T	-0.411665	0.01938	T	-0.569425	0.15502	T	0.470678210258484	0.31556	T	0.79842	0.45286	T	0.078491375	0.17877	0.123619825	0.29807	0.078491375	0.17877	0.123619825	0.29806	-5.797	0.45230	T	.	.	0.075	0.06387	B	.;.	.;.	3.776887	0.54279	23.5	0.98527249249388782	0.42545	0.88213	0.48041	D	AEFDBI	0.432783	0.49452	N	0.107839141327412	0.46828	2.917301	0.140997730888562	0.46666	2.909018	0.999998449493659	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.442705	0.06548	1	0.564101	0.26826	0	.	.	4.82	4.82	0.61641	3.613000	0.53894	7.352000	0.58300	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.800000	0.37734	0.0:0.1592:0.8408:0.0	13.289	0.59697	933	0.16026	F-BAR domain|FCH domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1913.98	37	chr3	9124908	.	G	A	1913.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.702e+00;DP=868;ExcessHet=0.0000;FS=0.772;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.94;ReadPosRankSum=0.490;SOR=0.585	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1208	20	0	1	0
chr3	9384614	9384614	C	G	exonic	THUMPD3	.	nonsynonymous SNV	THUMPD3:NM_001114092:exon10:c.C1450G:p.R484G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.99	D	0.000	D	1.000	D	2.16	M	0.14	T	-0.623	T	0.269	T	0.887	2.584	14.60	3.79	1.424	3.796	10.083	0.272	0.0727981923396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.007	0.69154	D	0.999	0.77913	D	0.99	0.78936	D	0.000000	0.84330	D	0.048883	0.999975	0.53665	D	2.79	0.81396	M	0.14	0.60854	T	-5.89	0.88767	D	0.904	0.96302	-0.6226	0.63880	T	0.269	0.64045	T	10	0.7823654	0.77960	D	0.072798	0.71626	D	0.484	0.77335	0.53	0.63707	0.770817927371	0.76872	0.8827661370152379	0.88244	0.372105454378	0.38710	0.517695367336	0.41302	T	0.131445	0.46095	T	0.299017	0.82888	D	0.191741	0.82667	D	0.993509709835052	0.84328	D	0.754325	0.37688	T	0.8452553	0.86987	0.63234425	0.78547	0.8452553	0.86989	0.63234425	0.78548	-13.728	0.92139	D	.	.	0.968	0.89449	P	.;.;.	.;.;.	4.273687	0.65043	24.8	0.99725565300764951	0.82406	0.92668	0.56256	D	ALL	0.736041	0.68167	D	0.117540734028745	0.47281	2.956032	0.100941168500492	0.44596	2.738376	0.999999998946635	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.67	3.79	0.42757	3.823000	0.55415	5.730000	0.49516	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.537000	0.29868	0.1369:0.7914:0.0:0.0717	10.083	0.41576	624	0.65661	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1240.98	36	chr3	9384614	.	C	G	1240.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.79;DP=905;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.89;ReadPosRankSum=-3.300e-01;SOR=0.759	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	20	0	1	0
chr3	9706053	9706053	C	T	exonic	CPNE9	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	3.870	19.66	1.32	-0.167	1.236	15.131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1020442573	2.053e-06	2.052e-06	1.362e-06	2.751e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	6.577e-06	6.568e-06	1.286e-05	0	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000057	0.53742	D	0.068440	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.334	0.37820	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.489422	0.93981	D	0.465245	0.93904	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	7.320346	0.96393	36	0.92335944669080161	0.21733	0.79742	0.39574	D	AEFDBI	0.271005	0.38695	N	-0.125872344584525	0.36269	2.094117	-0.366136187097601	0.26015	1.434237	0.0783981018663456	0.15787	0.623552	0.39893	0	0.547309	0.14657	0	0.667671	0.60360	0	0.530356	0.10902	0	.	.	4.28	1.32	0.20897	1.235000	0.32274	0.190000	0.15733	-0.889000	0.02397	0.992000	0.37556	0.950000	0.28999	0.725000	0.34934	0.5712:0.4288:0.0:0.0	15.131	0.72200	702	0.57624	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	435.98	34	chr3	9706053	.	C	T	435.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.777;DP=764;ExcessHet=0.0000;FS=2.363;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.92;ReadPosRankSum=2.49;SOR=0.373	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1323	20	0	1	0
chr3	9725967	9725967	T	C	exonic	CPNE9	.	unknown	UNKNOWN,	.	.	419	1090	13	0	0	13	0.00592795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.966	T	0.069	T	.	0.922	8.754	-5.95	-0.976	-4.666	1.389	0.035	.	0.0022	0.00219649	0.0030	0.0001	0.0011	0.0001	0.0002	0.0038	0.0033	0.0058	0.0031306	484	154602	rs71314361	0.0036	0.0036	0.0036	0.0037	0.0068	0.0036	0.0035	0.0063	0.0061	0.0003	0.0013	0.0016	2.521e-05	0.0004	0.0036	0.0040	0.0027	0.0068	0.0023	0.0023	0.0025	0.0022	0.0050	0.0021	0.0020	0.0034	0.0032	0.0004	0	0.0029	0.0020	0	0.0003	0.0034	0.0037	0.0038	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1274.98	33	chr3	9725967	.	T	C	1274.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.151e+00;DP=807;ExcessHet=0.0000;FS=2.245;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.04;ReadPosRankSum=0.167;SOR=0.515	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1228	20	0	1	0
chr3	9725976	9725976	C	T	exonic	CPNE9	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.984	T	0.165	T	.	1.258	10.10	-0.085	-0.358	-1.293	5.595	0.050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1423.98	33	chr3	9725976	.	C	T	1423.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.84;DP=770;ExcessHet=0.0000;FS=7.333;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.16;ReadPosRankSum=-5.820e-01;SOR=0.885	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1228	20	0	1	0
chr3	9751100	9751100	A	C	exonic	OGG1	.	nonsynonymous SNV	OGG1:NM_001354648:exon2:c.A293C:p.K98T	Renal cell carcinoma, clear cell, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.152	B	0.322	B	0.008	N	1.000	N	0.97	L	0.54	T	-1.027	T	0.089	T	0.554	1.390	10.58	2.62	0.855	0.865	8.910	0.024	0.0358683140223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.46910	T	0.225	0.45744	T	0.001	0.15914	B	0.031	0.24975	B	0.007902	0.31126	N	0.369264	1	0.08975	N	1.735	0.44892	L	0.54	0.54911	T	-0.87	0.27259	N	0.189	0.27435	-1.0272	0.21363	T	0.089	0.34298	T	10	0.26239932	0.43708	T	0.035868	0.56625	D	0.141	0.37795	0.584	0.71118	0.733702516443	0.73132	0.5200408349730734	0.51927	0.196384427349	0.21999	0.231403261423	0.02074	T	0.059028	0.31006	T	-0.045383	0.45145	T	-0.302966	0.44411	T	0.13789269906808	0.16092	T	0.878612	0.66396	D	0.2943915	0.52397	0.11369823	0.27442	0.2943915	0.52397	0.11369823	0.27441	-2.416	0.11539	T	0.1089558507953163	0.09042	0.088	0.21125	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.760148	0.22389	15.60	0.98497921727353921	0.42180	0.25345	0.22670	N	ALL	0.238552	0.36065	N	-0.429933790709702	0.24426	1.318769	-0.491275879933149	0.22393	1.216047	0.999995327151963	0.74766	0.660085	0.49399	0	0.52208	0.09955	0	0.672317	0.60874	0	0.651492	0.60203	0	.	.	5.41	2.62	0.30337	1.388000	0.34048	0.733000	0.21101	0.756000	0.94297	0.021000	0.19753	0.000000	0.08366	0.189000	0.21571	0.7953:0.1283:0.0764:0.0	8.910	0.34705	707	0.57054	8-oxoguanine DNA glycosylase, N-terminal;8-oxoguanine DNA glycosylase, N-terminal;8-oxoguanine DNA glycosylase, N-terminal;8-oxoguanine DNA glycosylase, N-terminal;.;8-oxoguanine DNA glycosylase, N-terminal;8-oxoguanine DNA glycosylase, N-terminal;8-oxoguanine DNA glycosylase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1207.98	33	chr3	9751100	.	A	C	1207.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.608e+00;DP=800;ExcessHet=0.0000;FS=0.709;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.88;ReadPosRankSum=0.667;SOR=0.813	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1063	20	0	1	0
chr3	9867240	9867241	CC	-	exonic	CIDEC	.	frameshift deletion	CIDEC:NM_001321144:exon5:c.388_389del:p.G130Hfs*46	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0.0003	0.0002	6.008e-05	0	0.0004	9.7e-05	15	154602	rs777480698	9.44e-05	9.645e-05	8.712e-05	0.0001	0.0004	8.135e-05	7.651e-05	0.0003	0.0002	2.987e-05	0	0	7.557e-05	3.747e-05	0	8.633e-05	8.279e-05	0.0004	5.25e-05	5.249e-05	5.138e-05	5.367e-05	7.349e-05	2.554e-05	1.828e-05	2.846e-05	1.858e-05	0	0	6.536e-05	0	0	9.406e-05	0	7.349e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1424.94	52	chr3	9867239	.	GCC	G	1424.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.450e-01;DP=846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.83;ReadPosRankSum=-2.740e-01;SOR=0.754	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1185	20	0	1	0
chr3	9893079	9893079	C	G	exonic	JAGN1	.	nonsynonymous SNV	JAGN1:NM_001363890:exon2:c.C92G:p.S31C	Neutropenia, severe congenital, 6, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.975	D	0.815	P	0.001	D	1.000	D	2.535	M	.	.	-0.164	T	0.425	T	0.432	4.204	21.8	5.73	2.709	3.977	19.488	0.231	0.0222805343604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.437e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.34621	T	0.112	0.37037	T	0.975	0.58077	D	0.815	0.58847	P	0.000567	0.43250	D	0.239229	0.999811	0.49394	D	1.85	0.49092	L	.	.	.	-2.63	0.56466	D	0.312	0.35194	-0.1637	0.78580	T	0.425	0.76883	T	9	0.7841961	0.78107	D	0.022281	0.45152	T	0.231	0.53208	0.628	0.76366	0.683740502345	0.68104	0.6627413893646246	0.66211	0.212106756448	0.23704	0.526173651218	0.42496	T	0.678045	0.90516	D	-8.60054e-05	0.51642	T	-0.2379	0.51002	T	0.779613614082336	0.45026	D	0.80002	0.44558	T	0.2279283	0.45502	0.17835206	0.40498	0.2279283	0.45503	0.17835206	0.40498	-4.712	0.33549	T	0.4634591731430876	0.54522	0.089	0.12037	B	.;.	.;.	3.806161	0.54877	23.5	0.98816351311557915	0.46704	0.94644	0.61841	D	AEFDBHCI	0.796274	0.72345	D	0.675974272007514	0.78056	6.795716	0.657737313030869	0.79189	7.029903	0.99999999998018	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.73	5.73	0.89730	4.046000	0.57088	7.664000	0.64404	0.544000	0.25403	0.976000	0.34826	1.000000	0.68203	0.983000	0.59808	0.0:1.0:0.0:0.0	19.488	0.95031	671	0.60868	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	320.11	36	chr3	9893079	.	C	G	320.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-6.141e+00;DP=1133;ExcessHet=0.1072;FS=87.192;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=1.26;ReadPosRankSum=1.78;SOR=8.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:129,20:149:53:0|1:9893075_C_G:0,53,5041:9893075	19	0	2	0
chr3	9910943	9910943	G	A	exonic	IL17RE	.	nonsynonymous SNV	IL17RE:NM_153481:exon7:c.G533A:p.R178H	.	.	429	1077	16	0	0	16	0.00737327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.987	D	0.019	N	0.786	D	2.08	M	2.35	T	-0.884	T	0.080	T	0.719	3.997	20.5	4.74	2.174	1.792	14.439	0.161	0.0092516279578	0.0055	0.000599042	0.0042	0.0009	0.0025	0	0.0024	0.0062	0.0011	0.0028	0.0044372	686	154602	rs144937970	0.0069	0.0069	0.0071	0.0067	0.0082	0.0067	0.0067	0.0081	0.0080	0.0010	0.0030	0.0014	5.038e-05	0.0015	0.0040	0.0082	0.0054	0.0031	0.0047	0.0047	0.0048	0.0045	0.0078	0.0044	0.0043	0.0072	0.0070	0.0013	0	0.0056	0.0012	0.0002	0.0013	0	0.0078	0.0052	0.0031	0.165	0.43393	T	0.0	0.92824	D	1.0	0.90584	D	0.972	0.77487	D	0.019050	0.27344	N	0.387299	0.785971	0.34326	D	2.015	0.55033	M	2.35	0.16217	T	-1.98	0.47683	N	0.095	0.09207	-0.8843	0.49415	T	0.080	0.31615	T	10	0.015896738	0.00334	T	0.009252	0.24296	T	0.161	0.41658	.	.	0.682607719403	0.67990	0.5251094156886731	0.52434	.	.	0.274772167206	0.06774	T	0.012711	0.11127	T	-0.34585	0.04992	T	-0.261604	0.48664	T	0.025151637208932	0.01293	T	0.789321	0.42944	T	0.066204816	0.14223	0.06053735	0.11545	0.066204816	0.14223	0.06053735	0.11545	-5.999	0.46271	T	.	.	0.093	0.13830	B	.;.;.	.;.;.	3.268665	0.44732	22.0	0.99949576778901561	0.99938	0.85214	0.44327	D	AEFDBI	0.395222	0.47217	N	0.576383706353443	0.71702	5.691281	0.5308710993687	0.70079	5.452564	0.999999999183161	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.74	4.74	0.59717	1.835000	0.38821	1.959000	0.29928	0.618000	0.50648	1.000000	0.71638	0.931000	0.28545	0.987000	0.62547	0.0:0.0:1.0:0.0	14.439	0.66876	653	0.62661	Interleukin-17 receptor C/E, N-terminal;Interleukin-17 receptor C/E, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1738.98	45	chr3	9910943	.	G	A	1738.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.616;DP=854;ExcessHet=0.0000;FS=4.064;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.69;ReadPosRankSum=1.42;SOR=1.061	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1199	20	0	1	0
chr3	9923985	9923985	C	G	exonic	IL17RC	.	nonsynonymous SNV	IL17RC:NM_001367279:exon6:c.C607G:p.Q203E	Candidiasis, familial, 9, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.435	B	0.085	B	0.194	N	1.000	N	1.905	M	2.74	T	-1.016	T	0.029	T	0.24	-1.239	0.055	3.85	0.767	0.551	8.637	0.026	0.00360174229617	.	.	3.296e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs752152533	1.779e-05	1.779e-05	8.168e-06	2.75e-05	0.0003	1.237e-05	1.051e-05	0.0001	0.0001	0	0	0	2.519e-05	0	0.0003	0	8.279e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.41915	T	0.103	0.40909	T	0.341	0.35719	B	0.085	0.29395	B	0.193746	0.16777	N	0.538742	1	0.08975	N	2.015	0.55033	M	2.54	0.13916	T	-1.21	0.30762	N	0.28	0.31702	-1.0159	0.25045	T	0.029	0.12278	T	10	0.049818754	0.04624	T	0.003602	0.08247	T	0.026	0.05648	0.31	0.28289	0.117506650769	0.11410	0.19809999384985602	0.19726	0.263017185051	0.28861	0.273654341698	0.06623	T	0.113653	0.43085	T	-0.437622	0.01336	T	-0.570198	0.15430	T	0.0551424615599947	0.06381	T	0.863014	0.57103	D	0.117180936	0.27628	0.11499975	0.27759	0.117180936	0.27628	0.11499975	0.27758	-4.724	0.36490	T	.	.	0.079	0.08465	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	0.838597	0.12104	8.654	0.58914366056035983	0.06102	0.18005	0.20079	N	AEFBI	0.142332	0.26474	N	-0.70187363259952	0.15968	0.8095125	-0.725207997102021	0.16334	0.8635801	0.999953802473046	0.48110	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.63	3.85	0.43556	0.306000	0.19030	0.835000	0.21986	0.599000	0.40250	0.013000	0.18845	0.270000	0.24042	0.038000	0.14061	0.0:0.8305:0.0:0.1695	8.637	0.33117	648	0.63242	.;.;Interleukin-17 receptor C/E, N-terminal;Interleukin-17 receptor C/E, N-terminal;.;Interleukin-17 receptor C/E, N-terminal;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	607.98	79	chr3	9923985	.	C	G	607.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.080e+00;DP=769;ExcessHet=0.0000;FS=4.627;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.70;ReadPosRankSum=-3.050e-01;SOR=0.320	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1395	20	0	1	0
chr3	9932685	9932685	A	C	exonic	IL17RC	.	nonsynonymous SNV	IL17RC:NM_001203265:exon15:c.A1369C:p.K457Q	Candidiasis, familial, 9, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.808	P	0.216	B	0.595	N	1.000	N	1.67	L	1.78	T	-0.972	T	0.120	T	0.349	1.870	12.21	1.69	0.167	0.710	8.266	0.041	0.0128505700454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.104e-06	4.104e-06	5.445e-06	2.75e-06	0.0010	1.48e-06	9.7e-07	0.0005	0.0003	0	0	0	0	0	0.0010	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.53172	D	0.05	0.54541	T	0.13	0.45299	B	0.075	0.37572	B	0.594784	0.05612	N	1.216020	1	0.08975	N	1.385	0.34509	L	1.78	0.50459	T	-1.39	0.39314	N	0.258	0.33250	-0.9723	0.36712	T	0.120	0.41865	T	10	0.09664804	0.17352	T	0.012851	0.31779	T	0.041	0.10877	0.349	0.34598	0.124217242631	0.12060	0.40649871090723494	0.40565	0.424901746232	0.42907	0.339967280626	0.16433	T	0.178366	0.52899	T	-0.111218	0.34567	T	-0.397533	0.33671	T	0.10174333393571	0.12548	T	0.784022	0.42156	T	0.13790832	0.31914	0.10143562	0.24282	0.13790832	0.31913	0.10143562	0.24281	-6.727	0.71430	T	.	.	0.119	0.27069	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.587378	0.20305	14.69	0.97617779221024381	0.34943	0.04194	0.09699	N	AEFDGBHCI	0.111232	0.22029	N	-0.664952179719967	0.17027	0.8726481	-0.76244541854088	0.15417	0.8107225	0.999999966287827	0.74766	0.652421	0.48094	0	0.218748	0.04544	0	0.64067	0.45733	0	0.372554	0.06265	0	.	.	4.19	1.69	0.23290	1.255000	0.32512	2.616000	0.33606	0.735000	0.85950	0.190000	0.24188	0.989000	0.31174	0.254000	0.23365	0.5477:0.4523:0.0:0.0	8.266	0.30975	631	0.64944	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	794.98	33	chr3	9932685	.	A	C	794.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.383;DP=787;ExcessHet=0.0000;FS=1.782;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.14;ReadPosRankSum=0.126;SOR=0.809	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1081	20	0	1	0
chr3	9943452	9943452	C	T	exonic	CRELD1	.	nonsynonymous SNV	CRELD1:NM_001374320:exon8:c.C901T:p.R301C	Atrioventricular septal defect, partial, with heterotaxy syndrome, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	18466	not_provided|Atrioventricular_septal_defect,_susceptibility_to,_2	MedGen:C3661900|MONDO:MONDO:0011650,MedGen:C1853508,OMIM:606217	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	1.0	D	0.997	D	0.009	N	1.000	D	3.05	M	-3.06	D	0.981	D	0.888	D	0.87	3.863	19.62	4.96	2.313	3.474	14.946	0.715	0.303919901057	0.0013	0.000798722	0.0006	0.0005	0.0003	0.0001	0.0005	0.0010	0	6.056e-05	0.0006662	103	154602	rs28942091	0.0008	0.0008	0.0008	0.0008	0.0010	0.0007	0.0007	0.0009	0.0009	0.0003	0.0005	0	2.519e-05	0.0003	0.0010	0.0009	0.0007	0.0001	0.0008	0.0008	0.0008	0.0008	0.0013	0.0007	0.0006	0.0011	0.0010	0.0003	0	0.0011	0	0	9.429e-05	0	0.0013	0.0005	0.0002	0.178	0.23271	T	0.09	0.46862	T	1.0	0.90584	D	0.973	0.86255	D	0.008732	0.30696	N	0.374939	0.999988	0.54805	D	3.155	0.88459	M	-3.06	0.92457	D	-0.99	0.27876	N	0.773	0.77039	0.981	0.96874	D	0.888	0.96285	D	9	0.30895013	0.48386	T	0.30392	0.90972	D	0.715	0.89877	.	.	0.984984454091	0.98482	0.8250822619629183	0.82466	0.227251636705	0.25277	0.264449745417	0.05432	T	0.382466	0.74454	T	0.0981197	0.64089	D	0.317725	0.88996	D	0.0682023692009495	0.08397	T	0.816518	0.47523	T	0.18486987	0.39822	0.13095032	0.31454	0.21638325	0.44096	0.12236571	0.29516	-10.066	0.74306	D	0.17994534461799375	0.23134	0.421	0.60736	A	.;.;.;.	.;.;.;.	4.281242	0.65215	24.8	0.9993225417624213	0.99439	0.93199	0.57584	D	AEFDBCI	0.491304	0.52842	N	0.566172902454911	0.71074	5.595708	0.451085041580149	0.64785	4.742043	0.999999999999941	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.96	4.96	0.65153	3.611000	0.53881	3.331000	0.37627	-0.190000	0.09434	1.000000	0.71638	0.998000	0.33993	0.614000	0.31742	0.0:1.0:0.0:0.0	14.946	0.70685	628	0.65206	EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1305.98	39	chr3	9943452	.	C	T	1305.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.37;DP=874;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.40;ReadPosRankSum=0.370;SOR=0.695	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1143	20	0	1	0
chr3	9949103	9949103	G	A	exonic	PRRT3	.	nonsynonymous SNV	PRRT3:NM_001318871:exon2:c.C1013T:p.P338L	.	.	433	1081	8	0	0	8	0.00368664	0.7476	0.636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.559	P	0.329	B	0.098	N	0.999	D	1.1	L	1.29	T	-1.103	T	0.077	T	0.273	3.456	17.71	2.05	0.588	0.984	5.286	0.046	0.0372417184463	8.2e-05	.	0.0006	0	0.0002	0	0	0.0003	0	0.0038	0.0004722	73	154602	rs377600710	0.0003	0.0003	0.0002	0.0004	0.0037	0.0003	0.0003	0.0033	0.0032	0	0.0001	3.967e-05	2.52e-05	0	0.0021	0.0001	0.0004	0.0037	0.0002	0.0002	0.0001	0.0003	0.0031	0.0001	0.0001	0.0019	0.0015	0	0	0.0001	0	0.0002	0	0	0.0001	0.0009	0.0031	0.0	0.91255	D	0.005	0.72224	D	0.033	0.38332	B	0.018	0.42046	B	0.097892	0.20006	N	0.458543	0.998573	0.45107	D	1.79	0.46772	L	1.29	0.39401	T	-3.42	0.96707	D	0.25	0.28498	-1.1025	0.03801	T	0.077	0.30859	T	9	0.00602141	0.00135	T	0.037242	0.57497	D	0.046	0.12618	.	.	0.082315109003	0.07666	0.19342266199439337	0.19260	0.130780169279	0.14752	0.391524910927	0.23883	T	0.021021	0.16443	T	-0.441987	0.01259	T	-0.409766	0.32253	T	0.113568298583082	0.13790	T	0.722728	0.33613	T	0.13201118	0.30751	0.15163548	0.35711	0.13201118	0.30751	0.15163548	0.35710	-4.479	0.31318	T	.	.	0.098	0.32226	B	.;.	.;.	3.023888	0.40482	21.2	0.99792090288480573	0.87750	0.68156	0.33696	D	AEFDBI	0.147106	0.27071	N	-0.344907331970427	0.27459	1.506733	-0.326964640371917	0.27231	1.509575	0.999432519565573	0.39683	0.695654	0.57023	0	0.379588	0.06130	0	0.723109	0.80598	0	0.491896	0.07777	0	.	.	3.92	2.05	0.25860	1.396000	0.34140	3.817000	0.39935	-0.154000	0.11915	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.1141:0.209:0.6768:0.0	5.286	0.15010	625	0.65529	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	823.98	33	chr3	9949103	.	G	A	823.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.780e-01;DP=800;ExcessHet=0.0000;FS=0.881;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=0.089;SOR=0.579	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1152	20	0	1	0
chr3	10065420	10065420	C	T	exonic	FANCD2	.	nonsynonymous SNV	FANCD2:NM_001374253:exon23:c.C2084T:p.P695L	Fanconi anemia, complementation group D2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.96	D	0.000	D	1.000	D	2.47	M	0.62	T	-0.370	T	0.321	T	0.576	5.023	29.6	5.53	2.618	7.263	17.011	0.410	0.0789833593748	.	.	8.236e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs754740540	7.526e-06	7.525e-06	6.808e-06	8.252e-06	6.956e-05	4.04e-06	2.95e-06	2.995e-05	2.038e-05	0	0	0	0	0	0	3.598e-06	1.656e-05	6.956e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.003	0.76473	D	0.999	0.77913	D	0.96	0.70309	D	0.000010	0.62929	D	0.151447	0.999997	0.58761	D	2.67	0.78151	M	0.62	0.53302	T	-5.7	0.87380	D	0.754	0.75374	-0.3696	0.72974	T	0.321	0.69004	T	10	0.8571166	0.84913	D	0.078983	0.73129	D	0.410	0.72176	0.526	0.63115	0.862758784291	0.86142	0.7092208891279418	0.70864	0.621399424811	0.56427	0.39650696516	0.24583	T	0.472758	0.80490	T	0.0321961	0.56014	T	-0.191529	0.55446	T	0.990497887134552	0.80716	D	0.958704	0.84427	D	0.7460152	0.80638	0.6436452	0.79171	0.7460152	0.80639	0.6436452	0.79172	-7.74	0.59285	D	0.9642761957396472	0.98842	0.693	0.72667	P	.;.;.	.;.;.	4.956403	0.81914	27.7	0.999074355448615	0.97801	0.96214	0.68059	D	AEFDBCI	0.795580	0.72296	D	0.8375878450024	0.88389	9.560598	0.806581292524312	0.90248	10.32125	0.999999673369351	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.53	5.53	0.82530	7.399000	0.79180	7.718000	0.67175	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:1.0:0.0:0.0	17.011	0.86279	357	0.85079	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1783.98	35	chr3	10065420	.	C	T	1783.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.400e-01;DP=838;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.62;ReadPosRankSum=-3.170e-01;SOR=0.712	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1367	20	0	1	0
chr3	10074669	10074669	C	A	exonic	FANCD2	.	nonsynonymous SNV	FANCD2:NM_001374253:exon28:c.C2744A:p.T915N	Fanconi anemia, complementation group D2, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.993	D	0.000	D	1.000	D	2.43	M	0.58	T	-0.306	T	0.367	T	0.441	4.733	26.4	5.8	2.749	5.048	17.616	0.270	0.036632438589	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1481456752	6.843e-07	6.84e-07	1.362e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.006	0.70582	D	0.999	0.77913	D	0.993	0.81110	D	0.000006	0.62929	D	0.141980	0.999197	0.46300	D	2.695	0.78878	M	0.58	0.54149	T	-2.37	0.52289	N	0.652	0.66272	-0.3065	0.74804	T	0.367	0.72720	T	10	0.74863136	0.75472	D	0.036632	0.57117	D	0.270	0.58507	0.51	0.60693	0.879419312157	0.87824	0.40073875540640486	0.39988	0.649232544592	0.58242	0.665853738785	0.62247	T	0.106323	0.41757	T	-0.0115303	0.50052	T	-0.254339	0.49387	T	0.946915507316589	0.62570	D	0.880612	0.59878	D	0.32418346	0.54991	0.34347343	0.60059	0.32418346	0.54991	0.34347343	0.60058	-4.12	0.25951	T	0.4946702601398571	0.57093	0.393	0.59165	A	.;.;.	.;.;.	4.282624	0.65252	24.8	0.99323261278497721	0.59469	0.97658	0.76213	D	AEFGBI	0.616213	0.60285	D	0.828305252077832	0.87841	9.359677	0.806702525481897	0.90255	10.32498	0.9999999967267	0.74766	0.744818	0.98587	0	0.732433	0.95613	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.8	5.8	0.92081	5.061000	0.64149	7.710000	0.66754	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	17.616	0.87969	344	0.85734	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	808.98	33	chr3	10074669	.	C	A	808.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.161e+00;DP=758;ExcessHet=0.0000;FS=2.062;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=0.144;SOR=0.469	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1137	20	0	1	0
chr3	10141956	10141970	GAGTCCGGCCCGGAA	-	exonic	VHL	.	nonframeshift deletion	VHL:NM_000551:exon1:c.109_123del:p.S43_E47del	Erythrocytosis, familial, 2, Autosomal recessive;Hemangioblastoma, cerebellar, somatic (3);Pheochromocytoma, Autosomal dominant;Renal cell carcinoma, somatic;von Hippel-Lindau syndrome, Autosomal dominant	.	1	1520	1	0	0	1	0.000328839	.	.	212278	not_provided|Hereditary_cancer-predisposing_syndrome|Chuvash_polycythemia|Von_Hippel-Lindau_syndrome	MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0	0	0	0	0.0008	5.17e-05	8	154602	rs1376074402	7.673e-05	7.593e-05	5.795e-05	9.607e-05	0.0002	6.479e-05	6.018e-05	0.0001	0.0001	0	0	3.994e-05	0	0	0.0002	7.705e-05	6.93e-05	0.0002	3.939e-05	3.937e-05	3.854e-05	4.027e-05	0.0006	1.714e-05	1.129e-05	0.0002	8.985e-05	0	0	0	0	0	0	0	2.94e-05	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	883.94	36	chr3	10141955	.	GGAGTCCGGCCCGGAA	G	883.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=751;ExcessHet=0.0000;FS=6.823;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.22;ReadPosRankSum=-1.057e+00;SOR=1.973	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1029	20	0	1	0
chr3	10238797	10238797	C	T	exonic	IRAK2	.	nonsynonymous SNV	IRAK2:NM_001570:exon12:c.C1523T:p.T508M,	.	.	431	1079	11	1	0	13	0.00598802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.654	P	0.038	B	0.508	N	1.000	N	0	N	0.65	T	-1.054	T	0.039	T	0.146	1.159	9.717	-1.14	0.091	-1.005	2.752	0.038	0.0147820822306	0.0035	0.00119808	0.0041	0.0008	0.0013	0	0.0020	0.0065	0.0022	0.0015	0.0042173	652	154602	rs144752184	0.0056	0.0056	0.0057	0.0055	0.0066	0.0055	0.0054	0.0065	0.0065	0.0011	0.0013	0.0067	0	0.0012	0.0031	0.0066	0.0043	0.0018	0.0034	0.0034	0.0038	0.0030	0.0059	0.0032	0.0031	0.0054	0.0053	0.0011	0	0.0020	0.0066	0	0.0008	0.0034	0.0059	0.0043	0.0006	0.125	0.27310	T	0.045	0.49390	D	0.654	0.40793	P	0.038	0.23361	B	0.508142	0.11873	N	0.734666	1	0.08975	N	1.3	0.32576	L	0.65	0.52642	T	-0.89	0.24026	N	0.105	0.08925	-1.0535	0.13440	T	0.039	0.16806	T	10	0.003986776	0.00077	T	0.014782	0.35118	T	0.038	0.09825	.	.	0.433269665224	0.42948	0.22949769077654394	0.22864	0.175596667541	0.19770	0.327096730471	0.14495	T	0.075026	0.35081	T	-0.584223	0.00182	T	-0.605292	0.12371	T	0.00565192157684829	0.00062	T	0.588541	0.21576	T	0.016661977	0.00213	0.029084744	0.01208	0.016661977	0.00213	0.029084744	0.01208	-4.998	0.36819	T	.	.	0.070	0.03625	B	.	.	0.075091	0.04825	1.427	0.95729438461231364	0.27667	0.01461	0.04883	N	AEFDBI	0.026674	0.02044	N	-1.11451116120667	0.06384	0.2937227	-1.17989604390308	0.06246	0.3000584	0.98921818078031	0.31756	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	4.84	-1.14	0.09241	-0.951000	0.03995	-5.041000	0.01874	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2753:0.2642:0.3669:0.0936	2.752	0.04960	721	0.55360	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1538.98	34	chr3	10238797	.	C	T	1538.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.000e-03;DP=837;ExcessHet=0.0000;FS=0.696;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.02;ReadPosRankSum=-1.898e+00;SOR=0.810	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr3	10249268	10249268	G	A	exonic	TATDN2	.	nonsynonymous SNV	TATDN2:NM_014760:exon2:c.G68A:p.R23H,	.	.	427	1078	16	1	0	18	0.00827967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.761	P	.	.	0.592	D	1.87	L	1.33	T	-0.856	T	0.051	T	0.563	4.624	25.3	2.86	0.883	2.289	8.424	0.158	.	0.0002	0.0199681	0.0095	0.0001	0.0009	0.0354	0	0.0003	0.0064	0.0662	0.0083828	1296	154602	rs148376271	0.0040	0.0040	0.0028	0.0052	0.0494	0.0039	0.0039	0.0481	0.0476	0.0003	0.0003	8.363e-05	0.0275	1.916e-05	0.0021	0.0001	0.0059	0.0494	0.0031	0.0032	0.0021	0.0042	0.0570	0.0029	0.0028	0.0514	0.0493	0.0002	0	0.0006	0	0.0330	0	0	0.0002	0.0009	0.0570	0.0	0.91255	D	0.007	0.69154	D	0.999	0.77913	D	0.761	0.56482	P	.	.	.	.	0.591672	0.32461	D	2.35	0.67516	M	1.33	0.35031	T	-1.34	0.33401	N	0.531	0.55972	-0.8563	0.51527	T	0.051	0.21728	T	9	0.0032314062	0.00055	T	.	.	.	0.158	0.41098	.	.	0.548779645056	0.54534	0.23889582964326989	0.23803	0.767720231024	0.64598	0.535856187344	0.43861	T	0.00496	0.04384	T	-0.367149	0.03741	T	-0.262917	0.48532	T	0.0616320266438867	0.07423	T	0.759724	0.38410	T	0.2926532	0.52239	0.4018956	0.64687	0.2926532	0.52238	0.4018956	0.64687	-6.23	0.48165	T	.	.	0.125	0.26451	B	.;.	.;.	4.255123	0.64624	24.7	0.99936507980052913	0.99621	0.55553	0.29893	D	AEFDGBHCI	0.250407	0.37046	N	0.33369196127615	0.57886	3.957777	0.267361713276655	0.53642	3.532272	0.999999999890613	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.77	2.86	0.32427	2.310000	0.43368	5.999000	0.52457	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.7667:0.2333	8.424	0.31879	721	0.55360	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1013.98	42	chr3	10249268	.	G	A	1013.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.032;DP=838;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.90;ReadPosRankSum=1.65;SOR=0.741	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1153	20	0	1	0
chr3	10401027	10401027	A	G	exonic	ATP2B2	.	nonsynonymous SNV	ATP2B2:NM_001001331:exon5:c.T707C:p.I236T	.	.	399	1120	2	1	0	4	0.00178253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.997	D	0.993	D	0.000	D	1.000	D	1.75	L	-2.88	D	0.810	D	0.831	D	0.989	4.455	23.8	5.6	2.124	9.339	15.791	0.857	0.219249687713	.	.	3.297e-05	0	8.643e-05	0.0001	0	2.998e-05	0	0	3.23e-05	5	154602	rs535964962	2.189e-05	2.189e-05	2.722e-05	1.65e-05	4.472e-05	1.584e-05	1.356e-05	1.663e-05	1.425e-05	2.987e-05	4.472e-05	0	2.519e-05	0	0	2.428e-05	0	1.159e-05	1.969e-05	1.969e-05	1.285e-05	2.685e-05	0.0002	5.24e-06	2.45e-06	.	.	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	0.046	0.40573	D	0.095	0.39492	T	0.796	0.70673	P	0.364	0.81110	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.95	0.23787	L	-2.88	0.91533	D	-3.74	0.71519	D	0.901	0.95725	0.810	0.94541	D	0.831	0.94341	D	10	0.9026017	0.89622	D	0.21925	0.87698	D	0.857	0.95618	.	.	0.782857077414	0.78085	0.9147327016045707	0.91448	2.15156627293	0.95323	0.908712506294	0.97347	D	0.839056	0.96230	D	0.28872	0.82050	D	0.352796	0.90426	D	0.818275630474091	0.47644	D	0.954805	0.82790	D	0.34522703	0.56693	0.50098604	0.71151	0.34522703	0.56693	0.50098604	0.71152	-12.055	0.89005	D	0.3023635643050091	0.39980	0.674	0.76483	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.619957	0.73354	26.0	0.99798825600364605	0.88372	0.98892	0.88252	D	AEFGBI	0.929737	0.91596	D	0.519212633850167	0.68226	5.188166	0.581745787920944	0.73632	6.002304	0.999999997890389	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	5.6	5.6	0.84997	9.325000	0.96006	11.168000	0.87876	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	1.0:0.0:0.0:0.0	15.791	0.78139	835	0.38313	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1628.98	34	chr3	10401027	.	A	G	1628.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.612;DP=819;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=-2.280e-01;SOR=0.715	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1302	20	0	1	0
chr3	11259094	11259094	G	C	exonic	HRH1	.	nonsynonymous SNV	HRH1:NM_001098211:exon2:c.G57C:p.K19N	.	.	430	1085	7	0	0	7	0.00321543	.	.	708467	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.51	T	0.651	P	0.116	B	0.059	N	0.946	N	0.805	L	1.22	T	-1.092	T	0.041	T	0.077	2.593	14.63	5.02	1.465	1.509	16.275	0.078	0.00581780761098	0.0040	0.00139776	0.0044	0.0013	0.0026	0	0.0083	0.0063	0.0022	0.0002	0.0041914	648	154602	rs2067466	0.0047	0.0047	0.0048	0.0046	0.0054	0.0046	0.0046	0.0051	0.0051	0.0008	0.0030	0.0056	0	0.0074	0.0054	0.0052	0.0052	0.0003	0.0038	0.0038	0.0035	0.0042	0.0055	0.0036	0.0035	0.0050	0.0048	0.0008	0	0.0033	0.0046	0	0.0090	0.0034	0.0055	0.0071	0.0004	0.217	0.19157	T	0.325	0.18846	T	0.651	0.40707	P	0.116	0.31939	B	0.058732	0.22379	N	0.475105	0.945824	0.26649	N	2.25	0.63811	M	1.22	0.37052	T	0.7	0.02163	N	0.069	0.04188	-1.0919	0.05223	T	0.041	0.17742	T	10	0.0037067235	0.00068	T	0.005818	0.15131	T	0.078	0.22779	0.123	0.02942	0.598497351524	0.59529	0.20596321321530162	0.20513	0.3674429646	0.38303	0.266831040382	0.05732	T	0.034731	0.23438	T	-0.579809	0.00193	T	-0.601906	0.12652	T	0.0190926818231129	0.00617	T	0.709329	0.31993	T	0.17709923	0.38658	0.1372117	0.32804	0.17709923	0.38658	0.1372117	0.32803	-2.881	0.08955	T	.	.	0.167	0.36850	B	.;.;.	.;.;.	1.316241	0.17197	13.02	0.99647623802509744	0.77068	0.38773	0.26064	N	AEFDGBHCI	0.133219	0.25281	N	-0.2197031616686	0.32325	1.821855	-0.125188046635083	0.34378	1.976805	0.999924125828484	0.46280	0.562547	0.31514	0	0.59043	0.45803	0	0.615948	0.41167	0	0.635551	0.53088	0	.	.	5.91	5.02	0.66742	2.847000	0.47970	3.439000	0.38368	0.676000	0.76740	0.380000	0.26006	0.999000	0.35428	0.968000	0.53726	0.0:0.0:0.8663:0.1337	16.275	0.82469	778	0.48011	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1895.98	42	chr3	11259094	.	G	C	1895.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.465e+00;DP=1013;ExcessHet=0.0000;FS=2.177;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=0.019;SOR=0.503	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	20	0	1	0
chr3	12600208	12600208	C	T	exonic	RAF1	.	nonsynonymous SNV	RAF1:NM_001354695:exon7:c.G592A:p.V198M	Cardiomyopathy, dilated, 1NN, Autosomal dominant;LEOPARD syndrome 2;Noonan syndrome 5	.	0	1520	2	0	0	2	0.000657462	.	.	452141	not_specified|Noonan_syndrome_5|LEOPARD_syndrome_2|not_provided|RASopathy|Noonan_syndrome_and_Noonan-related_syndrome	MedGen:CN169374|MONDO:MONDO:0012690,MedGen:C1969057,OMIM:611553,Orphanet:648|MONDO:MONDO:0012691,MedGen:C1969056,OMIM:611554,Orphanet:500|MedGen:C3661900|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.23	T	0.689	P	0.186	B	0.016	N	0.999	D	0.345	N	-0.88	T	-0.931	T	0.175	T	0.167	1.923	12.39	2.95	0.346	1.331	9.585	0.063	0.0421732699098	.	0.000199681	4.948e-05	0	0	0	0	1.501e-05	0	0.0003	5.17e-05	8	154602	rs555034652	3.147e-05	3.147e-05	2.722e-05	3.575e-05	0.0003	2.412e-05	2.157e-05	0.0002	0.0001	0	0.0001	0	0	0	0.0002	1.169e-05	6.623e-05	0.0003	4.598e-05	4.594e-05	3.855e-05	5.374e-05	0.0004	2.108e-05	1.526e-05	0.0002	0.0001	0	0	0.0004	0	0	0	0	0	0	0.0002	0.237	0.19927	T	0.139	0.33666	T	0.169	0.28678	B	0.011	0.15521	B	0.015695	0.28177	N	0.422396	0.989126	0.45064	D	1.245	0.31408	L	-0.96	0.75553	T	0.08	0.07155	N	0.204	0.26596	-0.9315	0.43918	T	0.175	0.51832	T	10	0.05152732	0.05049	T	0.042173	0.60324	D	0.063	0.18251	0.211	0.12923	0.474368926326	0.47065	0.4039640969301252	0.40312	0.463496485926	0.45855	0.379684746265	0.22212	T	0.39121	0.75119	T	-0.292326	0.09404	T	-0.365534	0.37412	T	0.0260623689014193	0.01415	T	0.451355	0.34901	T	0.047702424	0.08198	0.054515824	0.09390	0.047702424	0.08198	0.054515824	0.09390	-5.528	0.42755	T	0.2261150185209121	0.30557	0.084	0.16670	B	.;.;.	.;.;.	1.218209	0.16117	12.33	0.98423365100985316	0.41309	0.90472	0.51676	D	AEFBI	0.211943	0.33768	N	-0.560426016215235	0.20158	1.060611	-0.432243241880796	0.24057	1.31527	0.998481157267018	0.37052	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.69	2.95	0.33285	1.373000	0.33877	0.271000	0.16657	-0.848000	0.02741	0.820000	0.29989	0.010000	0.20010	0.700000	0.34141	0.0:0.7841:0.0:0.2159	9.585	0.38673	673	0.60677	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1105.98	35	chr3	12600208	.	C	T	1105.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.68;DP=784;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=-5.190e-01;SOR=0.731	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1036	20	0	1	0
chr3	12813374	12813374	A	T	exonic	CAND2	.	nonsynonymous SNV	CAND2:NM_012298:exon5:c.A713T:p.E238V	.	.	424	1060	34	4	0	42	0.0194265	.	.	2819925	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.384	B	0.311	B	0.000	D	1.000	D	2.015	M	-0.27	T	-0.553	T	0.232	T	0.343	3.098	16.35	4.67	1.739	6.415	12.078	0.231	0.212997662004	0.0058	0.00259585	0.0050	0.0010	0.0043	0	0.0034	0.0070	0.0047	0.0027	0.0050517	781	154602	rs138783925	0.0061	0.0061	0.0061	0.0061	0.0112	0.0060	0.0059	0.0090	0.0082	0.0012	0.0059	0.0145	5.038e-05	0.0032	0.0112	0.0066	0.0073	0.0023	0.0053	0.0053	0.0057	0.0048	0.0077	0.0050	0.0048	0.0071	0.0069	0.0014	0	0.0077	0.0147	0	0.0020	0.0068	0.0076	0.0080	0.0033	0.002	0.78490	D	0.005	0.72224	D	0.384	0.34453	B	0.311	0.41430	B	0.000283	0.46274	D	0.082402	1	0.81001	D	2.565	0.75005	M	-0.27	0.67367	T	-4.03	0.74900	D	0.449	0.54845	-0.5528	0.66680	T	0.232	0.59757	T	10	0.0043477714	0.00088	T	0.212998	0.87384	D	0.231	0.53208	.	.	0.854174799299	0.85277	0.42959531088564745	0.42876	0.521512358638	0.49918	0.494949102402	0.38125	T	0.124184	0.44905	T	-0.305828	0.08121	T	-0.208072	0.53879	T	0.046848688626475	0.04939	T	0.70293	0.31283	T	0.41039586	0.61445	0.3350563	0.59324	0.41039586	0.61446	0.3350563	0.59323	-8.817	0.66511	D	.	.	0.164	0.41541	B	.;.	.;.	4.017003	0.59304	24.1	0.97823422286081851	0.36213	0.99131	0.91682	D	AEFDBI	0.659531	0.63041	D	0.130841528955499	0.47906	3.009839	0.223713165953116	0.51167	3.301554	0.999999894199915	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.67	4.67	0.58089	5.313000	0.65584	11.185000	0.88454	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	12.078	0.52956	835	0.38313	.;.	RPL32	Nerve_Tibial	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2241.11	40	chr3	12813374	.	A	T	2241.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-9.340e-01;DP=862;ExcessHet=0.1072;FS=1.873;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=0.531;SOR=0.563	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	19	0	2	0
chr3	12935487	12935487	C	T	exonic	IQSEC1	.	nonsynonymous SNV	IQSEC1:NM_001134382:exon3:c.G1529A:p.R510H	.	.	429	1087	6	0	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.994	D	0.000	D	1.000	D	.	.	0.89	T	-0.644	T	0.233	T	0.87	4.110	21.2	4.3	2.222	5.923	10.584	0.365	.	7.7e-05	0.00299521	0.0014	0	0.0003	0	0	0.0003	0.0022	0.0091	0.0012936	200	154602	rs141003089	0.0007	0.0007	0.0004	0.0009	0.0087	0.0007	0.0006	0.0081	0.0079	2.988e-05	0.0002	0	5.039e-05	7.505e-05	0.0010	0.0002	0.0010	0.0087	0.0003	0.0003	0.0002	0.0004	0.0073	0.0002	0.0002	0.0054	0.0047	2.405e-05	0	0.0001	0	0	0	0	0.0001	0	0.0073	0.035	0.43708	D	0.002	0.79402	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.89	0.45636	T	-3.12	0.63782	D	0.902	0.90251	-0.6443	0.62961	T	0.233	0.59879	T	9	0.010847181	0.00240	T	.	.	.	0.365	0.68495	.	.	0.740894788674	0.73857	0.8881715296917412	0.88786	1.59259118231	0.88554	0.830730497837	0.86674	D	0.593187	0.86852	D	-0.13329	0.30963	T	0.0414517	0.73022	D	0.110525855943162	0.13477	T	0.985721	0.95129	D	0.57837766	0.71520	0.25967687	0.51720	0.57837766	0.71521	0.25967687	0.51719	-9.319	0.69726	D	.	.	0.273	0.65937	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.475604	0.91325	32	0.99957358722942813	0.99981	0.84490	0.43572	D	AEFDGBHCI	0.712283	0.66545	D	0.623747164827252	0.74680	6.17388	0.590625480438672	0.74264	6.107923	1.0	0.98316	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	4.3	4.3	0.50540	5.037000	0.63964	5.895000	0.50812	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9113:0.0:0.0887	10.584	0.44459	895	0.25842	Sec7 domain|Sec7 domain|Sec7 domain|Sec7 domain;Sec7 domain|Sec7 domain|Sec7 domain|Sec7 domain;Sec7 domain|Sec7 domain|Sec7 domain|Sec7 domain;.;Sec7 domain|Sec7 domain|Sec7 domain|Sec7 domain;.;Sec7 domain|Sec7 domain|Sec7 domain|Sec7 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1297.98	36	chr3	12935487	.	C	T	1297.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.070e-01;DP=786;ExcessHet=0.0000;FS=2.065;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.31;ReadPosRankSum=-9.680e-01;SOR=0.429	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1166	20	0	1	0
chr3	13343188	13343188	C	T	exonic	NUP210	.	nonsynonymous SNV	NUP210:NM_024923:exon21:c.G2951A:p.R984H,	.	.	423	1092	6	1	0	8	0.00364964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.263	B	0.031	B	0.000	D	1.000	D	2.095	M	3.46	T	-1.077	T	0.021	T	0.249	2.835	15.44	4.08	0.937	4.132	11.065	0.103	0.0153549776788	.	.	0.0001	0	0.0009	0	0	1.5e-05	0	0.0001	8.41e-05	13	154602	rs199921179	2.942e-05	2.941e-05	3.131e-05	2.75e-05	0.0005	2.216e-05	1.97e-05	0.0003	0.0002	2.987e-05	0.0004	0	0	0	0.0005	1.079e-05	3.312e-05	6.957e-05	1.314e-05	1.313e-05	2.568e-05	0	0.0001	2.18e-06	8.2e-07	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	0.139	0.25768	T	0.17	0.30436	T	0.263	0.31569	B	0.031	0.21939	B	0.000105	0.50451	D	0.134244	0.999949	0.51968	D	2.045	0.56016	M	3.46	0.05249	T	-1.11	0.28703	N	0.408	0.44857	-1.0773	0.07881	T	0.021	0.08917	T	10	0.1068632	0.19824	T	0.015355	0.36047	T	0.103	0.29403	.	.	0.32980341726	0.32591	0.4741852732392197	0.47337	0.212619117767	0.23763	0.466758579016	0.34236	T	0.059371	0.31098	T	-0.446319	0.01187	T	-0.520302	0.20263	T	0.0752732557332402	0.09372	T	0.881012	0.60027	D	0.066216044	0.14226	0.05376841	0.09122	0.066216044	0.14226	0.05376841	0.09121	-7.058	0.54456	T	.	.	0.088	0.11654	B	.	.	3.616451	0.51161	23.1	0.99534330819313255	0.70087	0.87075	0.46507	D	AEFBCI	0.447685	0.50323	N	0.0203769407738984	0.42782	2.584279	0.115833349746479	0.45358	2.80039	0.999999497904727	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.620846	0.47308	0	.	.	5.87	4.08	0.46880	2.923000	0.48565	2.678000	0.33996	0.599000	0.40250	0.985000	0.35982	0.993000	0.31925	0.993000	0.69303	0.1296:0.8034:0.0:0.0669	11.065	0.47186	804	0.43891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2288.98	33	chr3	13343188	.	C	T	2288.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=918;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.31;ReadPosRankSum=-1.114e+00;SOR=0.684	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr3	13571581	13571581	C	T	exonic	FBLN2	.	nonsynonymous SNV	FBLN2:NM_001004019:exon2:c.C1226T:p.P409L	.	.	424	1055	43	0	0	43	0.0199721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.037	B	0.006	B	0.707	N	1.000	N	0.46	N	-1.17	T	-0.927	T	0.170	T	0.101	1.128	9.596	0.861	-0.128	0.645	5.851	0.107	.	0.0029	0.0107827	0.0092	0.0012	0.0020	0.0001	0.0002	0.0045	0.0036	0.0495	0.0082211	1271	154602	rs113265853	0.0067	0.0067	0.0055	0.0079	0.0456	0.0066	0.0065	0.0445	0.0440	0.0007	0.0017	0.0079	0.0001	0.0005	0.0151	0.0045	0.0078	0.0456	0.0044	0.0044	0.0040	0.0049	0.0370	0.0042	0.0040	0.0326	0.0309	0.0013	0	0.0029	0.0072	0	0.0006	0.0102	0.0052	0.0057	0.0370	0.142	0.25457	T	0.229	0.25210	T	0.037	0.20876	B	0.006	0.12133	B	0.707188	0.10044	N	0.862260	0.999978	0.18612	N	1.5	0.37844	L	-1.21	0.78645	T	-1.09	0.28290	N	0.134	0.13055	-0.9270	0.44573	T	0.170	0.51020	T	10	0.0025327504	0.00038	T	.	.	.	0.107	0.30369	.	.	0.256237801699	0.25221	0.42514303904641865	0.42431	0.126456553319	0.14255	0.256454885006	0.04477	T	0.227162	0.59237	T	-0.483817	0.00703	T	-0.43489	0.29382	T	0.00595067492918667	0.00065	T	0.684232	0.29249	T	0.03889599	0.05269	0.03206822	0.01886	0.03889599	0.05269	0.03206822	0.01886	-7.252	0.60064	T	.	.	0.074	0.06849	B	.;.;.	.;.;.	0.804273	0.11749	8.326	0.43754700355444892	0.03316	0.14055	0.18198	N	AEFDBI	0.085707	0.17376	N	-0.957163362943768	0.09532	0.4515708	-0.981177737210309	0.10209	0.5126888	0.998497507380997	0.37071	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.85	0.861	0.18186	0.731000	0.25726	-1.422000	0.05477	0.599000	0.40250	0.078000	0.22289	0.000000	0.08366	0.007000	0.07825	0.0:0.6287:0.1376:0.2337	5.851	0.17945	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1516.98	36	chr3	13571581	.	C	T	1516.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.460e-01;DP=935;ExcessHet=0.0000;FS=4.020;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=-5.700e-01;SOR=0.437	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,105,1575	20	0	1	0
chr3	13626475	13626475	C	T	exonic	FBLN2	.	nonsynonymous SNV	FBLN2:NM_001998:exon9:c.C2186T:p.T729M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.975	D	0.337	N	0.989	D	1.365	L	-2.3	D	0.237	D	0.848	D	0.369	3.189	16.68	5.01	2.347	0.166	16.884	0.430	0.070292904572	7.8e-05	.	2.888e-05	0	0	0	0	0	0	0.0001	3.23e-05	5	154602	rs368591685	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0002	0.0002	2.459e-05	0	2.638e-05	0	0.0002	0.0002	0.0001	4.905e-05	6.569e-05	6.566e-05	5.138e-05	8.067e-05	0.0002	3.516e-05	2.615e-05	6.28e-05	4.298e-05	0.0001	0	6.541e-05	0	0.0002	9.407e-05	0	1.47e-05	0	0	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.975	0.73362	D	0.337309	0.04166	N	1.439420	0.985563	0.40869	D	1.085	0.27262	L	-2.3	0.91748	D	-3.55	0.69835	D	0.223	0.28732	0.237	0.86530	D	0.848	0.94926	D	10	0.4048417	0.55820	T	0.070293	0.70963	D	0.430	0.73662	.	.	0.645937241127	0.64301	0.7480051486041969	0.74746	0.2669790586	0.29234	0.348179936409	0.17654	T	0.663749	0.89940	D	-0.0544897	0.43762	T	-0.118404	0.61934	T	0.323978453586984	0.25982	T	0.213879	0.04034	T	0.17088178	0.37690	0.19218023	0.42718	0.17088178	0.37689	0.19218023	0.42717	-9.283	0.69500	D	.	.	0.126	0.29116	B	.;.;.	.;.;.	4.707332	0.75589	26.4	0.99908424829414344	0.97875	0.41670	0.26709	N	AEFDBI	0.202616	0.32919	N	0.285660421228604	0.55421	3.70618	0.235452326016783	0.51826	3.361865	0.999962714193869	0.48965	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	5.01	5.01	0.66477	0.314000	0.19182	5.842000	0.50257	0.545000	0.25583	0.805000	0.29786	1.000000	0.68203	0.841000	0.39698	0.0:1.0:0.0:0.0	16.884	0.85938	934	0.15400	.;EGF-like calcium-binding domain|EGF-like calcium-binding domain|EGF-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1555.98	35	chr3	13626475	.	C	T	1555.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=825;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.68;ReadPosRankSum=-1.176e+00;SOR=0.770	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,109,1393	20	0	1	0
chr3	14129481	14129481	C	T	exonic	TMEM43	.	nonsynonymous SNV	TMEM43:NM_024334:exon2:c.C82T:p.R28W,	Arrhythmogenic right ventricular dysplasia 5, Autosomal dominant;Emery-Dreifuss muscular dystrophy 7, AD, Autosomal dominant	.	0	1505	16	1	0	18	0.00594452	.	.	55318	Arrhythmogenic_right_ventricular_dysplasia_5|not_specified|Auditory_neuropathy,_autosomal_dominant_3|Emery-Dreifuss_muscular_dystrophy_7,_autosomal_dominant|Cardiovascular_phenotype|Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|not_provided	MONDO:MONDO:0011459,MedGen:C1858379,OMIM:604400|MedGen:CN169374|MONDO:MONDO:0859235,MedGen:C5676964,OMIM:619832|MONDO:MONDO:0013677,MedGen:C3553060,OMIM:614302,Orphanet:261|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	2.645	M	0.82	T	-0.423	T	0.204	T	0.551	4.331	22.7	5.04	2.341	1.760	17.177	0.395	.	0.0067	0.00838658	0.0029	0.0185	0.0014	0.0001	0.0002	0.0011	0.0077	0.0035	0.0027813	430	154602	rs35028636	0.0013	0.0013	0.0012	0.0014	0.0153	0.0013	0.0012	0.0142	0.0138	0.0153	0.0017	0.0114	0.0004	0.0001	0.0081	0.0004	0.0030	0.0036	0.0052	0.0052	0.0054	0.0050	0.0159	0.0049	0.0048	0.0149	0.0145	0.0159	0	0.0020	0.0115	0	0	0.0204	0.0005	0.0038	0.0029	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.000020	0.62929	D	0.066364	0.999962	0.52935	D	2.97	0.85306	M	0.82	0.48142	T	-4.17	0.75456	D	0.867	0.86404	-0.4228	0.71300	T	0.204	0.56142	T	10	0.011812419	0.00257	T	.	.	.	0.395	0.71004	.	.	0.585624173979	0.58236	0.8509143264560879	0.85053	0.410448358861	0.41831	0.59380787611	0.52031	T	0.273881	0.64635	T	-0.338533	0.05490	T	-0.244776	0.50330	T	0.0585583195871895	0.06940	T	0.959504	0.84742	D	0.49552068	0.66831	0.41299242	0.65485	0.5049861	0.67387	0.48785636	0.70363	-11.969	0.84700	D	0.8236454928906443	0.89609	0.695	0.72749	P	.	.	5.039401	0.83867	28.2	0.99929177576521133	0.99279	0.89766	0.50444	D	AEFDBI	0.550294	0.56283	D	0.678361365327708	0.78214	6.826775	0.618827999199292	0.76309	6.467047	0.999997166434567	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.04	5.04	0.67293	0.907000	0.28154	3.328000	0.37603	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	17.177	0.86724	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1379.98	36	chr3	14129481	.	C	T	1379.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.326e+00;DP=807;ExcessHet=0.0000;FS=0.708;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=0.345;SOR=0.569	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr3	14146135	14146135	C	T	exonic	XPC	.	nonsynonymous SNV	XPC:NM_001354726:exon15:c.G2050A:p.D684N	Xeroderma pigmentosum, group C, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.007	B	0.004	B	0.319	N	1.000	N	0.805	L	1.28	T	-1.007	T	0.051	T	0.044	2.394	13.96	1.82	0.047	0.694	7.211	0.018	0.0186018964205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.855e-07	1.368e-06	1.364e-06	0	1.163e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.163e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	0.09836	T	0.04	0.50809	D	0.007	0.14184	B	0.002	0.06944	B	0.318895	0.14305	N	0.694088	1	0.08975	N	1.085	0.27262	L	1.27	0.36146	T	-0.66	0.19085	N	0.082	0.05799	-1.0073	0.27758	T	0.051	0.21728	T	10	0.052864164	0.05388	T	0.018602	0.40717	T	0.018	0.03083	0.193	0.10437	0.0884992946249	0.08302	0.1980215953506564	0.19719	0.115934735374	0.13078	0.422035574913	0.28116	T	0.100571	0.40649	T	-0.306048	0.08101	T	-0.677393	0.07144	T	0.0486250296235085	0.05255	T	0.59684	0.22194	T	0.047759935	0.08218	0.028889628	0.01168	0.047759935	0.08217	0.028889628	0.01168	-5.097	0.37876	T	0.2998121231110921	0.39711	0.088	0.11606	B	.	.	1.275762	0.16750	12.74	0.9846767077370695	0.41814	0.17217	0.19740	N	AEFDBCI	0.059805	0.11321	N	-0.897631626381775	0.10898	0.5231294	-0.865054614978838	0.12926	0.6677483	0.999975057040769	0.50053	0.722319	0.85440	0	0.702456	0.74545	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	5.62	1.82	0.24209	1.152000	0.31275	0.143000	0.15197	0.545000	0.25583	0.001000	0.13787	0.000000	0.08366	0.765000	0.36330	0.0:0.5773:0.2792:0.1434	7.211	0.25111	824	0.40336	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	951.98	38	chr3	14146135	.	C	T	951.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.930;DP=974;ExcessHet=0.0000;FS=0.802;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.07;ReadPosRankSum=0.914;SOR=0.798	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	20	0	1	0
chr3	14158883	14158883	G	A	exonic	XPC	.	nonsynonymous SNV	XPC:NM_001354726:exon8:c.C421T:p.P141S	Xeroderma pigmentosum, group C, Autosomal recessive	YES	1	1516	4	1	0	6	0.00197498	.	.	139226	not_provided|Xeroderma_pigmentosum|Xeroderma_pigmentosum,_group_C|not_specified	MedGen:C3661900|MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720,Orphanet:910|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.005	B	0.001	B	0.083	N	1.000	N	0.41	N	1.37	T	-1.044	T	0.039	T	0.231	-1.402	0.023	-3.43	-0.486	-0.104	2.394	0.015	0.00193231407746	.	0.00179712	0.0011	0	8.648e-05	0	0	0	0.0011	0.0077	0.0009185	142	154602	rs200338014	0.0005	0.0005	0.0003	0.0007	0.0078	0.0005	0.0004	0.0073	0.0071	2.987e-05	0	0	0	0	0.0003	2.698e-06	0.0003	0.0078	0.0003	0.0003	0.0002	0.0003	0.0081	0.0002	0.0002	0.0061	0.0054	0	0	0	0	0	0	0	0	0.0005	0.0081	0.787	0.03227	T	1.0	0.01155	T	0.005	0.12996	B	0.001	0.04355	B	0.082739	0.02372	N	1.773620	1	0.08975	N	0.4	0.12274	N	1.35	0.34648	T	-0.08	0.08187	N	0.055	0.02658	-1.0437	0.16207	T	0.039	0.16849	T	10	0.0026124418	0.00040	T	0.001932	0.03430	T	0.015	0.02232	0.386	0.40624	0.0297737177859	0.01360	0.22477308295976878	0.22392	0.119809200928	0.13497	0.241421490908	0.02919	T	0.051342	0.28851	T	-0.58392	0.00182	T	-0.606269	0.12291	T	0.00780555975000651	0.00091	T	0.591441	0.21800	T	0.01940693	0.00470	0.024562404	0.00478	0.01940693	0.00470	0.024562404	0.00478	-2.717	0.07447	T	0.16257424392448722	0.19979	0.071	0.04002	B	.	.	0.158344	0.05491	1.958	0.2189063025523218	0.00855	0.05638	0.11549	N	AEFBI	0.025928	0.01857	N	-1.53395475932852	0.01631	0.07129957	-1.53106289329479	0.02109	0.09650543	0.939616099690286	0.27395	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.89	-3.43	0.04507	0.035000	0.13685	0.241000	0.16308	-0.633000	0.04490	0.317000	0.25476	0.005000	0.19230	0.577000	0.30821	0.4767:0.103:0.2605:0.1598	2.394	0.04117	789	0.46346	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	451.98	38	chr3	14158883	.	G	A	451.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.162;DP=775;ExcessHet=0.0000;FS=1.104;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.69;ReadPosRankSum=0.546;SOR=0.974	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1445	20	0	1	0
chr3	14514356	14514356	C	T	exonic	GRIP2	.	nonsynonymous SNV	GRIP2:NM_001080423:exon12:c.G1429A:p.A477T,	.	.	422	1042	55	3	0	61	0.0284382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0069	0.00678914	0.0209	0.0032	0.0079	0	0.0361	0.0183	0.0125	0.0372	0.0076972	1190	154602	rs61731933	0.0084	0.0084	0.0075	0.0093	0.0336	0.0083	0.0082	0.0325	0.0321	0.0019	0.0026	0.0082	7.976e-05	0.0106	0.0125	0.0072	0.0070	0.0336	0.0070	0.0070	0.0064	0.0077	0.0310	0.0067	0.0065	0.0268	0.0252	0.0025	0	0.0021	0.0071	0	0.0137	0.0103	0.0088	0.0063	0.0310	.	.	.	0.015	0.63109	D	0.973	0.57599	D	0.866	0.61580	P	.	.	.	.	.	.	.	1.7	0.43825	L	.	.	.	.	.	.	0.451	0.48872	.	.	.	.	.	.	.	0.008893639	0.00201	T	.	.	.	.	.	.	.	.	.	0.4809170231000565	0.48011	.	.	0.710757851601	0.68703	T	0.046215	0.27356	T	-0.15527	0.27491	T	0.0278743	0.72140	D	.	.	.	0.920008	0.71084	D	0.14574614	0.33396	0.41954938	0.65945	0.14574614	0.33396	0.41954938	0.65945	-9.597	0.71461	D	.	.	0.149	0.32851	B	.;.;.	.;.;.	3.997254	0.58871	24.0	0.9309622440940325	0.22722	0.95255	0.64015	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999994724982313	0.74766	0.162113	0.03585	0	0.063388	0.01293	0	0.175069	0.04249	0	0.058706	0.01089	0	0.76698	0.45436	4.73	3.86	0.43689	5.798000	0.68751	3.899000	0.40339	0.549000	0.26987	1.000000	0.71638	0.999000	0.35428	0.997000	0.79791	0.0:0.921:0.0:0.079	13.007	0.58115	894	0.26265	PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain	GRIP2|GRIP2|GRIP2|GRIP2|GRIP2	Artery_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1131.98	40	chr3	14514356	.	C	T	1131.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.251e+00;DP=877;ExcessHet=0.0000;FS=0.838;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.15;ReadPosRankSum=0.365;SOR=0.588	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1177	20	0	1	0
chr3	14661587	14661587	G	A	exonic	CCDC174	.	nonsynonymous SNV	CCDC174:NM_016474:exon5:c.G365A:p.R122H,	Hypotonia, infantile, with psychomotor retardation, Autosomal recessive	.	423	1069	29	1	0	31	0.0142923	.	.	708622	not_provided|CCDC174-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.13	T	0.011	B	0.004	B	0.000	N	0.982	D	1.61	L	0.88	T	-1.065	T	0.068	T	0.11	3.373	17.37	3.72	0.615	2.334	9.339	0.041	.	0.0034	0.00658946	0.0055	0.0009	0.0035	0.0002	0.0012	0.0050	0.0022	0.0164	0.0052005	804	154602	rs142816619	0.0049	0.0050	0.0044	0.0055	0.0162	0.0049	0.0048	0.0155	0.0152	0.0016	0.0046	0.0135	0	0.0013	0.0160	0.0043	0.0054	0.0162	0.0039	0.0039	0.0037	0.0042	0.0170	0.0037	0.0036	0.0140	0.0129	0.0013	0	0.0044	0.0118	0.0006	0.0002	0.0204	0.0048	0.0066	0.0170	0.186	0.21467	T	0.08	0.41913	T	0.011	0.15914	B	0.004	0.10090	B	0.000252	0.46924	N	0.175246	0.981804	0.39818	D	1.745	0.45235	L	0.88	0.46412	T	-1.08	0.28084	N	0.157	0.21319	-1.0653	0.10479	T	0.068	0.27743	T	10	0.0043236315	0.00087	T	.	.	.	0.041	0.10877	.	.	0.639104523021	0.63613	0.14316327492055284	0.14239	0.199788861361	0.22381	0.216794580221	0.01133	T	0.026101	0.27364	T	-0.564125	0.00240	T	-0.570129	0.15438	T	0.0136823931805577	0.00255	T	0.886911	0.61435	D	0.031042334	0.02873	0.039528966	0.04066	0.034937356	0.04016	0.039528966	0.04065	-6.261	0.48413	T	.	.	0.088	0.11797	B	.;.;.	.;.;.	2.539914	0.32855	19.17	0.9991133438895361	0.98095	0.80068	0.39807	D	AEFBI	0.100218	0.20157	N	-0.333416735804446	0.27886	1.533608	-0.237167203402987	0.30215	1.699395	0.946795643710127	0.27723	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	3.72	0.41857	2.868000	0.48134	1.230000	0.25036	0.618000	0.50648	1.000000	0.71638	0.070000	0.22201	0.999000	0.91618	0.23:0.0:0.77:0.0	9.339	0.37229	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1011.98	34	chr3	14661587	.	G	A	1011.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.994;DP=869;ExcessHet=0.0000;FS=1.593;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.28;ReadPosRankSum=0.250;SOR=0.540	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1355	20	0	1	0
chr3	14661694	14661694	C	T	exonic	CCDC174	.	nonsynonymous SNV	CCDC174:NM_016474:exon5:c.C472T:p.P158S,	Hypotonia, infantile, with psychomotor retardation, Autosomal recessive	.	419	1099	4	0	0	4	0.00181653	.	.	1016185	Severe_hypotonia-psychomotor_developmental_delay-strabismus-cardiac_septal_defect_syndrome|not_provided	MONDO:MONDO:0014784,MedGen:C4225196,OMIM:616816,Orphanet:467176|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	0.998	D	0.928	D	0.000	D	1.000	D	1.635	L	1.0	T	-0.871	T	0.210	T	0.612	2.777	15.25	5.65	2.660	3.244	18.506	0.101	0.0191829496662	0.0010	0.000199681	0.0007	0.0004	8.652e-05	0	0.0014	0.0010	0	0	0.0007827	121	154602	rs145180886	0.0018	0.0018	0.0018	0.0018	0.0022	0.0017	0.0017	0.0022	0.0021	0.0004	6.806e-05	0	0	0.0008	0.0007	0.0022	0.0015	0	0.0010	0.0010	0.0011	0.0009	0.0017	0.0009	0.0008	0.0014	0.0013	0.0005	0	0.0003	0	0	0.0012	0	0.0017	0	0	0.24	0.24090	T	0.209	0.47097	T	0.998	0.73220	D	0.928	0.66279	D	0.000001	0.84330	D	0.056880	0.99997	0.53665	D	2.32	0.66415	M	0.97	0.42502	T	-3.4	0.69593	D	0.347	0.38848	-0.8706	0.50484	T	0.210	0.57000	T	10	0.02024728	0.00463	T	0.019183	0.41471	T	0.101	0.28911	.	.	0.681597050132	0.67888	0.37725612578991685	0.37640	0.0910040194683	0.10278	0.440350711346	0.30625	T	0.406638	0.76248	T	-0.180458	0.23666	T	-0.0381586	0.67826	D	0.0455554164946079	0.04703	T	0.869413	0.58047	D	0.27932197	0.50982	0.2983665	0.55870	0.27932197	0.50982	0.2983665	0.55869	-7.858	0.60098	D	.	.	0.117	0.31683	B	.;.	.;.	3.687314	0.52517	23.2	0.99478623728226367	0.66741	0.98209	0.80557	D	AEFBI	0.442721	0.50033	N	0.539104032570605	0.69419	5.354513	0.542329864427757	0.70863	5.568528	0.999996997773035	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	3.376000	0.52148	4.011000	0.41162	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.856000	0.40543	0.0:1.0:0.0:0.0	18.506	0.90846	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2312.98	162	chr3	14661694	.	C	T	2312.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.30;DP=1076;ExcessHet=0.0000;FS=1.253;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.28;ReadPosRankSum=-2.161e+00;SOR=0.844	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1355	20	0	1	0
chr3	14668100	14668100	A	G	exonic	CCDC174	.	nonsynonymous SNV	CCDC174:NM_016474:exon9:c.A871G:p.I291V,	Hypotonia, infantile, with psychomotor retardation, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.179	N	1.000	N	0.515	N	0.96	T	-0.974	T	0.035	T	0.073	1.029	9.204	-5.9	-0.400	0.360	2.518	0.022	0.00586458865686	.	0.000199681	2.478e-05	0	0	0	0	0	0	0.0002	3.88e-05	6	154602	rs542404527	8.231e-06	8.209e-06	6.825e-06	9.651e-06	4.687e-05	4.39e-06	3.47e-06	1.594e-05	9.37e-06	0	0	0	0	0	0	6.304e-06	1.662e-05	4.687e-05	6.563e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.178575	0.17167	N	0.643718	1	0.19853	N	0.955	0.23872	L	0.96	0.42888	T	0.12	0.05604	N	0.165	0.17416	-0.9737	0.36409	T	0.035	0.14900	T	10	0.016488254	0.00348	T	0.005865	0.15251	T	0.022	0.04323	0.2	0.11384	0.178374595973	0.17440	0.05917337768193995	0.05857	0.0755267479925	0.08473	0.322551041842	0.13808	T	0.039973	0.25372	T	-0.471606	0.00830	T	-0.7097	0.05311	T	0.00749472343005794	0.00087	T	0.681532	0.29028	T	0.012421252	0.00033	0.024499144	0.00471	0.012421252	0.00033	0.024499144	0.00471	-2.009	0.03215	T	.	.	0.061	0.01075	B	.	.	0.052255	0.04656	1.308	0.56184467853478037	0.05498	0.28931	0.23687	N	AEFBI	0.063024	0.12152	N	-1.31129969301408	0.03545	0.1585363	-1.25706391547974	0.05027	0.2385723	0.144210059412658	0.17329	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.76	-5.9	0.02087	0.227000	0.17575	-0.174000	0.11198	-0.107000	0.15377	0.356000	0.25809	0.000000	0.08366	0.995000	0.73285	0.3551:0.2913:0.2584:0.0952	2.518	0.04389	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	465.98	33	chr3	14668100	.	A	G	465.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.004e+00;DP=719;ExcessHet=0.0000;FS=1.194;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=-1.597e+00;SOR=0.407	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1017	20	0	1	0
chr3	14820728	14820728	G	A	exonic	FGD5	.	nonsynonymous SNV	FGD5:NM_001320276:exon1:c.G1657A:p.V553M	.	.	426	1091	4	1	0	6	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.983	D	0.521	P	0.000	D	0.643	N	1.115	L	-1.28	T	-0.512	T	0.365	T	0.174	1.077	9.396	4.18	1.146	5.270	9.736	0.280	0.0777356773622	0.0020	0.000998403	0.0018	0.0014	0.0011	0	0.0006	0.0027	0.0024	0.0004	0.001837	284	154602	rs61751585	0.0025	0.0026	0.0026	0.0025	0.0030	0.0025	0.0025	0.0029	0.0029	0.0008	0.0012	0.0024	0	0.0005	0.0021	0.0030	0.0022	0.0003	0.0019	0.0019	0.0020	0.0018	0.0034	0.0017	0.0017	0.0030	0.0029	0.0006	0	0.0008	0.0037	0	9.418e-05	0.0034	0.0034	0.0043	0.0008	0.063	0.36709	T	0.294	0.20745	T	0.983	0.60381	D	0.521	0.48239	P	0.000136	0.49741	D	0.000000	0.64285	0.30601	N	2.175	0.60977	M	-1.51	0.81399	D	-0.8	0.24460	N	0.468	0.57177	-0.5123	0.68202	T	0.365	0.72545	T	10	0.013870835	0.00293	T	0.077736	0.72842	D	0.280	0.59740	.	.	0.778677213717	0.77664	0.2386801752435745	0.23782	0.665287203776	0.59132	0.667751431465	0.62517	T	0.001168	0.00668	T	-0.356125	0.04353	T	-0.283922	0.46401	T	0.0168512957802432	0.00438	T	0.827517	0.49142	T	0.034883052	0.04001	0.058249347	0.10731	0.034883052	0.04001	0.058249347	0.10730	-4.925	0.36015	T	.	.	0.171	0.37464	B	.;.;.	.;.;.	3.227512	0.44003	21.8	0.99429039688840093	0.64179	0.93530	0.58468	D	AEFDBI	0.576026	0.57818	D	-0.0488978936362002	0.39651	2.341795	-0.0754952877638392	0.36406	2.118293	0.989188399120511	0.31747	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.05	4.18	0.48473	4.545000	0.60408	5.132000	0.47660	-0.185000	0.09859	1.000000	0.71638	1.000000	0.68203	0.351000	0.25682	0.1567:0.0:0.8433:0.0	9.736	0.39553	923	0.18507	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1370.98	42	chr3	14820728	.	G	A	1370.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=847;ExcessHet=0.0000;FS=0.735;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.31;ReadPosRankSum=-3.600e-01;SOR=0.597	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1206	20	0	1	0
chr3	15003967	15003967	C	G	exonic	NR2C2	.	nonsynonymous SNV	NR2C2:NM_001291694:exon2:c.C53G:p.A18G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.0	B	0.0	B	0.003	N	0.870	D	0.69	N	-3.18	D	0.217	D	0.665	D	0.329	3.392	17.45	5.31	2.493	4.693	18.577	0.348	0.0295345532005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.189e-05	0.0009	5.651e-05	4.724e-05	5.923e-05	4.24e-05	3.867e-05	4.761e-05	4.337e-05	3.02e-05	0	3.857e-05	2.528e-05	0	0	5.923e-05	6.69e-05	3.495e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.42199	T	0.088	0.63109	T	0.0	0.02946	B	0.0	0.01387	B	0.002953	0.35672	N	0.313188	0.869993	0.35545	D	-0.14	0.04484	N	-3.3	0.93787	D	-1.5	0.68764	N	0.324	0.36464	0.217	0.86200	D	0.665	0.88392	D	10	0.1999422	0.36022	T	0.029535	0.52028	D	0.348	0.66956	0.082	0.00727	0.202312658747	0.19855	0.13027040555393532	0.12952	0.343984992891	0.36322	0.632090747356	0.57442	T	0.163841	0.50907	T	0.0950387	0.63753	D	-0.10126	0.63300	T	0.647998213768005	0.38376	D	0.841416	0.51891	T	0.14685042	0.33598	0.112335265	0.27105	0.14685042	0.33597	0.112335265	0.27104	-2.954	0.13971	T	.	.	0.074	0.62122	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.397345	0.47066	22.4	0.98891559513655258	0.48019	0.95884	0.66568	D	AEFBI	0.571784	0.57563	D	-0.0193053131226323	0.40981	2.443305	0.183621717806624	0.48950	3.104215	0.999976298748313	0.50053	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	4.784000	0.62103	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.577	0.91115	588	0.69043	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3	6188.68	230	chr3	15003967	.	C	G	6188.68	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-4.434e+00;DP=4026;ExcessHet=9.6308;FS=254.962;InbreedingCoeff=-0.4237;MLEAC=12;MLEAF=0.300;MQ=60.00;MQRankSum=0.00;QD=2.20;ReadPosRankSum=2.28;SOR=13.530	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,77:259:99:0|1:15003967_C_G:624,0,4939:15003967	8	0	12	1
chr3	15074122	15074124	TCC	-	exonic	RBSN	.	nonframeshift deletion	RBSN:NM_001302378:exon13:c.2013_2015del:p.E672del	.	.	418	1098	6	0	0	6	0.0027248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0	0	0.0009	0.0001035	16	154602	rs550571960	4.515e-05	4.515e-05	2.042e-05	7.013e-05	0.0007	3.641e-05	3.321e-05	0.0006	0.0005	0	0	0	0	0	0.0002	0	4.967e-05	0.0007	6.568e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1973.94	109	chr3	15074121	.	TTCC	T	1973.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.209e+00;DP=1119;ExcessHet=0.0000;FS=0.697;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.87;ReadPosRankSum=0.958;SOR=0.579	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1273	20	0	1	0
chr3	15451673	15451673	C	T	exonic	COLQ	.	nonsynonymous SNV	COLQ:NM_080539:exon16:c.G1237A:p.D413N	Myasthenic syndrome, congenital, 5, Autosomal recessive	YES	2	1518	2	0	0	2	0.000658328	.	.	631002	Congenital_myasthenic_syndrome_5	MONDO:MONDO:0011281,MedGen:C1864233,OMIM:603034,Orphanet:590	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.255	M	-3.28	D	1.012	D	0.908	D	0.274	4.790	27.0	5.49	2.574	7.173	19.361	0.783	0.613245393386	.	.	1.648e-05	0	8.639e-05	0.0001	0	0	0	0	1.29e-05	2	154602	rs770753693	1.368e-05	1.368e-05	1.633e-05	1.1e-05	0.0001	8.94e-06	7.26e-06	4.907e-05	3.165e-05	0	6.708e-05	0	0.0001	0	0	6.295e-06	3.312e-05	3.478e-05	1.315e-05	1.314e-05	2.57e-05	0	0.0002	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.92359	D	0.000000	0.84330	D	0.046027	1	0.81001	D	2.34	0.67151	M	-3.42	0.94348	D	-2.52	0.60507	D	0.691	0.90476	1.012	0.97389	D	0.908	0.96949	D	10	0.83328635	0.82488	D	0.613245	0.96630	D	0.783	0.92787	.	.	0.982093447026	0.98190	0.7548930069117097	0.75436	0.0949871506179	0.10726	0.73571228981	0.72342	T	0.50555	0.82414	D	-0.0501656	0.44421	T	-0.0176871	0.69181	D	0.386661409556021	0.28437	T	0.934707	0.75876	D	0.62252843	0.73899	0.5722859	0.75229	0.62252843	0.73900	0.5722859	0.75229	-7.024	0.54209	T	0.6396002771396248	0.71011	0.223	0.47632	B	.;.;.;.	.;.;.;.	5.426590	0.90767	31	0.99888928951962375	0.96359	0.98669	0.85367	D	AEFI	0.879865	0.80610	D	0.828683388508142	0.87864	9.367681	0.806621333846898	0.90248	10.322	0.999999999998764	0.74766	0.614807	0.35715	0	0.588066	0.40923	0	0.616094	0.41390	0	0.564101	0.26826	0	.	.	5.49	5.49	0.81022	7.442000	0.79626	7.603000	0.61629	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	19.361	0.94428	527	0.73864	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1005.98	35	chr3	15451673	.	C	T	1005.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.315;DP=786;ExcessHet=0.0000;FS=0.759;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.16;ReadPosRankSum=-8.090e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1114	20	0	1	0
chr3	15766256	15766256	G	A	exonic	ANKRD28	.	nonsynonymous SNV	ANKRD28:NM_001349280:exon3:c.C71T:p.S24L	.	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0058	0.00259585	0.0051	0.0008	0.0020	0	0.0029	0.0073	0.0011	0.0048	0.0051422	795	154602	rs185386403	0.0060	0.0061	0.0059	0.0062	0.0069	0.0059	0.0059	0.0068	0.0067	0.0009	0.0025	0.0021	2.52e-05	0.0035	0.0040	0.0069	0.0043	0.0056	0.0041	0.0041	0.0043	0.0038	0.0071	0.0038	0.0037	0.0066	0.0064	0.0009	0	0.0022	0.0014	0	0.0026	0.0034	0.0071	0.0033	0.0044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	823.98	38	chr3	15766256	.	G	A	823.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.460e-01;DP=861;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.70;ReadPosRankSum=-6.220e-01;SOR=0.746	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr3	16208561	16208561	C	G	exonic	GALNT15	.	nonsynonymous SNV	GALNT15:NM_001319051:exon4:c.C970G:p.P324A	.	.	431	1083	7	1	0	9	0.00413793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9	T	0.001	B	0.002	B	0.023	N	0.966	N	-0.71	N	0.1	T	-1.076	T	0.012	T	0.119	0.961	8.919	4.12	0.819	3.195	11.747	0.055	.	0.0006	0.0123802	0.0107	0.0011	0.0593	0.0449	0.0110	0.0017	0.0121	0.0013	0.0098252	1519	154602	rs12634179	0.0041	0.0041	0.0043	0.0038	0.0516	0.0040	0.0039	0.0497	0.0490	0.0007	0.0478	3.826e-05	0.0516	0.0123	0.0007	0.0006	0.0048	0.0016	0.0052	0.0052	0.0046	0.0059	0.0438	0.0049	0.0048	0.0391	0.0373	0.0011	0	0.0187	0	0.0438	0.0143	0	0.0010	0.0038	0.0021	0.752	0.03565	T	0.973	0.02465	T	0.001	0.07471	B	0.002	0.06944	B	0.022706	0.26581	N	0.432927	0.965842	0.25920	N	0.005	0.07933	N	0.1	0.61326	T	-0.35	0.13418	N	0.065	0.03726	-1.0760	0.08144	T	0.012	0.04700	T	10	0.0016605556	0.00020	T	.	.	.	0.055	0.15663	.	.	.	.	0.28860886469581315	0.28773	0.0404014523321	0.04329	0.29603895545	0.09813	T	0.009071	0.08280	T	-0.559344	0.00256	T	-0.531445	0.19143	T	0.00155269134112455	0.00016	T	0.69713	0.30934	T	0.050854705	0.09251	0.054251224	0.09294	0.050854705	0.09251	0.054251224	0.09293	-3.833	0.21298	T	.	.	0.069	0.04723	B	.;.	.;.	1.912649	0.24293	16.34	0.66035963670175535	0.07943	0.82235	0.41494	D	AEFI	0.163355	0.28963	N	-0.678537185040102	0.16635	0.8492307	-0.455180163907077	0.23402	1.276024	0.996384545931478	0.34709	0.516011	0.20929	0	0.563428	0.19063	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.93	4.12	0.47504	3.266000	0.51272	3.499000	0.38765	0.520000	0.23804	0.980000	0.35271	0.999000	0.35428	0.990000	0.65344	0.0:0.8053:0.1276:0.0671	11.747	0.51093	883	0.28872	Glycosyltransferase 2-like;Glycosyltransferase 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1973.98	43	chr3	16208561	.	C	G	1973.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.273e+00;DP=910;ExcessHet=0.0000;FS=2.760;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=-1.865e+00;SOR=0.716	GT:AD:DP:GQ:PL	0/1:79,83:162:99:1988,0,2030	20	0	1	0
chr3	17011549	17011549	G	A	exonic	PLCL2	.	nonsynonymous SNV	PLCL2:NM_001144382:exon2:c.G2203A:p.E735K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.695	P	0.41	B	0.000	D	1.000	D	.	.	0.66	T	-0.942	T	0.152	T	0.761	4.228	22.0	4.95	2.445	9.813	18.551	0.303	0.0504422308877	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.162	0.31225	T	0.695	0.41722	P	0.41	0.44785	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.66	0.52416	T	-2.5	0.54382	D	0.592	0.61172	-0.9415	0.42378	T	0.152	0.48101	T	9	0.44943926	0.58605	T	0.050442	0.64245	D	0.303	0.62400	0.522	0.62518	0.377143385212	0.37329	0.8680794389283953	0.86772	.	.	0.852193415165	0.89945	D	0.281621	0.65434	T	0.142542	0.68566	D	-0.0330245	0.68167	D	0.989856243133545	0.80073	D	.	.	.	0.5540618	0.70181	0.4064115	0.65015	0.5540618	0.70182	0.4064115	0.65015	-9.464	0.70635	D	.	.	0.954	0.87383	P	.;.	.;.	4.636394	0.73764	26.0	0.99873155788579326	0.95076	0.98713	0.85906	D	AEFBI	.	.	.	0.473352303931839	0.65540	4.835297	0.549068248715126	0.71331	5.638813	0.999999999998851	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.95	4.95	0.64894	10.003000	0.99689	11.829000	0.97466	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:1.0:0.0	18.551	0.91016	644	0.63734	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2471.98	95	chr3	17011549	.	G	A	2471.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=1761;ExcessHet=0.0000;FS=3.713;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.26;ReadPosRankSum=1.80;SOR=1.022	GT:AD:DP:GQ:PL	0/0:91,0:91:99:0,120,1800	20	0	1	0
chr3	17012010	17012010	G	C	exonic	PLCL2	.	nonsynonymous SNV	PLCL2:NM_001144382:exon2:c.G2664C:p.K888N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.996	D	0.937	D	0.000	D	1.000	D	.	.	2.15	T	-0.707	T	0.244	T	0.464	3.567	18.18	-3.64	-0.689	0.216	13.334	0.229	0.0599855589006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.006	0.70582	D	0.996	0.68779	D	0.937	0.67262	D	0.000000	0.84330	D	0.000000	0.999987	0.54805	D	.	.	.	2.15	0.19311	T	-3.15	0.64132	D	0.583	0.60410	-0.7065	0.60125	T	0.244	0.61213	T	9	0.39067656	0.54868	T	0.059986	0.67849	D	0.229	0.52916	0.355	0.35571	0.158540857583	0.15491	0.4834255960509961	0.48262	.	.	0.84985768795	0.89593	D	0.482597	0.81068	T	-0.135288	0.30645	T	-0.432109	0.29695	T	0.992417335510254	0.82888	D	.	.	.	0.2649213	0.49560	0.23940687	0.49289	0.2649213	0.49559	0.23940687	0.49288	-12.882	0.90082	D	.	.	0.993	0.94612	P	.;.	.;.	2.358454	0.30245	18.38	0.99700097203492455	0.80591	0.86674	0.46005	D	AEFBI	.	.	.	-0.399027686780271	0.25503	1.384929	-0.419279721094201	0.24431	1.337812	0.878673953497551	0.25571	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.553451	0.17756	0	.	.	5.74	-3.64	0.04225	0.229000	0.17614	-0.152000	0.11409	-0.169000	0.11342	0.993000	0.37899	0.011000	0.20116	0.503000	0.29084	0.7444:0.0:0.2556:0.0	13.334	0.59947	643	0.63827	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	120.15	128	chr3	17012010	.	G	C	120.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.149e+00;DP=1250;ExcessHet=0.0000;FS=139.883;InbreedingCoeff=-0.0328;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.71;ReadPosRankSum=1.95;SOR=7.701	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr3	17166849	17166849	G	T	exonic	TBC1D5	.	nonsynonymous SNV	TBC1D5:NM_001349091:exon19:c.C1604A:p.A535E	.	.	433	1078	9	2	0	13	0.00599355	.	.	3190640	TBC1D5-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.92	T	0.002	B	0.003	B	0.000	D	1.000	D	0.345	N	1.6	T	-1.088	T	0.040	T	0.128	3.178	16.63	5.09	2.521	5.996	14.577	0.039	0.00525009549559	0.0008	0.00159744	0.0010	9.61e-05	0.0004	0	0	0.0010	0	0.0033	0.0010737	166	154602	rs139210370	0.0010	0.0010	0.0009	0.0011	0.0033	0.0010	0.0009	0.0030	0.0028	0.0001	0.0006	0	0	1.872e-05	0.0033	0.0010	0.0010	0.0033	0.0008	0.0008	0.0008	0.0009	0.0050	0.0007	0.0007	0.0034	0.0029	0.0002	0	0.0007	0	0	0	0	0.0012	0.0009	0.0050	0.179	0.25873	T	0.367	0.17320	T	0.001	0.07471	B	0.003	0.08700	B	0.000480	0.44119	D	0.230694	0.998977	0.45795	D	1.245	0.31408	L	1.6	0.28604	T	-0.88	0.28084	N	0.115	0.16308	-1.0876	0.05943	T	0.040	0.17404	T	10	0.008088201	0.00183	T	0.00525	0.13402	T	0.039	0.10176	.	.	0.314716216878	0.31082	0.3957879721196043	0.39493	0.168082627083	0.18954	0.36914151907	0.20709	T	0.007995	0.07364	T	-0.540471	0.00333	T	-0.553429	0.16999	T	0.0203395259281482	0.00734	T	0.852615	0.54988	D	0.1687574	0.37352	0.26614425	0.52456	0.1687574	0.37352	0.26614425	0.52455	-2.836	0.08520	T	.	.	0.174	0.41418	B	.;.;.	.;.;.	3.127693	0.42255	21.5	0.98015989244652835	0.37597	0.92020	0.54768	D	AEFDBCI	0.671094	0.63795	D	-0.298044412696176	0.29224	1.61874	-0.0833851304870343	0.36076	2.094948	0.999963353442484	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.09	5.09	0.68647	6.077000	0.70910	11.687000	0.94301	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.701000	0.34172	0.0:0.0:0.8534:0.1466	14.577	0.67846	928	0.17405	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1545.98	38	chr3	17166849	.	G	T	1545.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.236;DP=927;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.73;ReadPosRankSum=6.000e-03;SOR=0.678	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1528	20	0	1	0
chr3	17404955	17404955	G	A	exonic	TBC1D5	.	nonsynonymous SNV	TBC1D5:NM_001349073:exon5:c.C283T:p.L95F	.	.	565	950	6	1	0	8	0.00419287	.	.	2827199	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.01	M	2.1	T	-0.788	T	0.127	T	0.921	3.952	20.2	5.12	2.552	4.706	13.272	0.456	0.0890458843197	0.0032	0.00219649	0.0033	0.0009	0.0063	0	0.0004	0.0045	0.0069	0.0006	0.0028654	443	154602	rs34457748	0.0039	0.0040	0.0039	0.0039	0.0181	0.0038	0.0038	0.0151	0.0140	0.0010	0.0063	0.0019	0	0.0004	0.0181	0.0044	0.0041	0.0006	0.0037	0.0037	0.0036	0.0039	0.0096	0.0035	0.0034	0.0084	0.0079	0.0007	0.0406	0.0096	0.0012	0	0.0004	0.0204	0.0047	0.0090	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.125	0.87999	M	2.1	0.19990	T	-3.68	0.74051	D	0.869	0.86618	-0.7884	0.55822	T	0.127	0.43442	T	10	0.0101546645	0.00227	T	0.089046	0.75252	D	0.456	0.75483	.	.	0.416202232284	0.41236	0.739143666950506	0.73859	0.65836449738	0.58744	0.646874547005	0.59542	T	0.289626	0.80739	T	-0.0692349	0.41451	T	0.131498	0.78991	D	0.0558242409740243	0.06495	T	0.970703	0.94177	D	0.797171	0.83725	0.7660149	0.86179	0.797171	0.83727	0.7660149	0.86180	-9.881	0.73486	D	.	.	0.632	0.87028	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.572626	0.92235	32	0.99907428599340908	0.97801	0.85777	0.44948	D	AEFCI	0.728614	0.67658	D	0.794142429634126	0.85737	8.666546	0.729551206407621	0.84622	8.343671	0.739177648033154	0.23183	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.12	5.12	0.69459	5.552000	0.66986	9.982000	0.82930	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0769:0.0:0.9231:0.0	13.272	0.59596	533	0.73433	Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;.;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;Rab-GTPase-TBC domain;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	348.98	33	chr3	17404955	.	G	A	348.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.044e+00;DP=672;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=-1.425e+00;SOR=0.473	GT:AD:DP:GQ:PL	0/0:33,0:33:90:0,90,1350	20	0	1	0
chr3	19518018	19518018	G	C	exonic	KCNH8	.	nonsynonymous SNV	KCNH8:NM_144633:exon15:c.G2563C:p.V855L,	.	.	437	1041	44	0	0	44	0.0206961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	B	0.006	B	0.235	U	1.000	D	0.895	L	-4.94	D	0.347	D	0.777	D	0.211	1.908	12.34	3.82	0.806	3.345	9.463	0.276	.	0.0050	0.00878594	0.0071	0.0013	0.0030	0.0093	0.0003	0.0057	0.0122	0.0202	0.0067464	1043	154602	rs148330866	0.0069	0.0069	0.0066	0.0072	0.0187	0.0068	0.0067	0.0180	0.0177	0.0013	0.0028	0.0089	0.0069	0.0004	0.0104	0.0064	0.0093	0.0187	0.0045	0.0045	0.0046	0.0043	0.0195	0.0042	0.0041	0.0163	0.0151	0.0015	0	0.0028	0.0092	0.0064	0.0002	0.0136	0.0058	0.0066	0.0195	0.449	0.09022	T	0.45	0.12957	T	0.004	0.12183	B	0.006	0.12133	B	0.235214	0.15833	U	0.319355	0.952348	0.26441	N	1.22	0.30592	L	-4.94	0.98409	D	-0.12	0.08809	N	0.442	0.48042	0.347	0.88289	D	0.777	0.92439	D	9	0.0077180862	0.00175	T	.	.	.	0.276	0.59253	.	.	0.819814452651	0.81811	0.3165417831225672	0.31567	0.0221848989643	0.02225	0.566369891167	0.48166	T	0.043438	0.26503	T	-0.276342	0.11059	T	-0.154786	0.58818	T	0.00441561722205172	0.00047	T	0.849515	0.53247	T	0.053219985	0.10038	0.05492728	0.09540	0.053219985	0.10038	0.05492728	0.09539	-3.412	0.15218	T	.	.	0.129	0.27553	B	.	.	2.551420	0.33023	19.22	0.97481368689112602	0.34188	0.90754	0.52198	D	AEFI	0.426222	0.49066	N	-0.214322457249247	0.32546	1.836586	-0.0371423809536064	0.38051	2.236427	5.53132372717157E-5	0.04171	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.66	3.82	0.43153	3.433000	0.52597	7.417000	0.58687	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0727:0.0:0.7821:0.1452	9.463	0.37962	667	0.61242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	752.98	36	chr3	19518018	.	G	C	752.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.882;DP=763;ExcessHet=0.0000;FS=0.883;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.18;ReadPosRankSum=-2.140e-01;SOR=0.840	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1171	20	0	1	0
chr3	20140317	20140317	C	T	exonic	KAT2B	.	nonsynonymous SNV	KAT2B:NM_003884:exon13:c.C1957T:p.R653W,	.	.	428	1062	31	1	0	33	0.015299	.	.	3206732	KAT2B-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.13	T	0.996	D	0.451	P	0.004	N	0.807	D	2.515	M	1.91	T	-0.945	T	0.054	T	0.256	3.322	17.17	3.34	1.424	3.038	6.643	0.141	.	0.0036	0.00159744	0.0034	0.0007	0.0011	0	0.0008	0.0049	0.0132	0.0027	0.0033247	514	154602	rs116196143	0.0034	0.0034	0.0033	0.0034	0.0109	0.0033	0.0032	0.0087	0.0079	0.0005	0.0015	0.0182	5.038e-05	0.0008	0.0109	0.0033	0.0044	0.0038	0.0023	0.0023	0.0024	0.0022	0.0033	0.0021	0.0020	0.0027	0.0026	0.0005	0	0.0019	0.0179	0.0002	0.0003	0.0034	0.0031	0.0043	0.0033	0.085	0.32769	T	0.107	0.37730	T	0.996	0.68779	D	0.451	0.46123	P	0.003954	0.34294	N	0.381500	0.807127	0.34590	D	2.565	0.75005	M	1.91	0.23283	T	-5.62	0.86758	D	0.392	0.43320	-0.9454	0.41748	T	0.054	0.22997	T	10	0.012265682	0.00264	T	.	.	.	0.141	0.37795	.	.	0.287411543184	0.28351	0.7273030285561954	0.72674	0.916642512623	0.71263	0.370670676231	0.20928	T	0.840931	0.96290	D	-0.495169	0.00609	T	-0.48406	0.24015	T	0.0689269644871812	0.08499	T	0.987301	0.95681	D	0.37912828	0.59254	0.1573653	0.36800	0.37912828	0.59254	0.1573653	0.36799	-10.961	0.79444	D	.	.	0.238	0.47239	B	.	.	4.116573	0.61501	24.3	0.99855882320124989	0.93458	0.85128	0.44235	D	AEFI	0.418356	0.48602	N	0.37314403849247	0.59970	4.181216	0.338402836118541	0.57811	3.948447	0.982835378379117	0.30462	0.638212	0.43195	0	0.653731	0.59785	0	0.547309	0.15389	0	0.668105	0.65232	0	.	.	5.41	3.34	0.37357	2.554000	0.45507	1.830000	0.29108	0.599000	0.40250	0.981000	0.35396	0.865000	0.27529	0.740000	0.35438	0.3738:0.5337:0.0:0.0925	6.643	0.22113	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	909.98	38	chr3	20140317	.	C	T	909.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.590e-01;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=0.612;SOR=0.677	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr3	20174951	20174951	T	C	exonic	SGO1	.	nonsynonymous SNV	SGO1:NM_001012409:exon6:c.A580G:p.S194G	Chronic atrial and intestinal dysrhythmia, Autosomal recessive	.	437	1082	3	0	0	3	0.0013844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.001	B	0.002	B	0.583	N	1.000	N	1.175	L	1.45	T	-0.982	T	0.042	T	0.133	0.082	4.443	-0.22	0.007	0.230	4.401	0.010	0.00275094187874	0.0002	.	8.264e-05	0	0	0	0	0.0002	0	0	0.0001035	16	154602	rs141448850	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	9.635e-05	0.0001	0.0001	2.987e-05	2.236e-05	0	0	3.744e-05	0.0005	0.0001	0.0002	0	6.569e-05	6.567e-05	6.422e-05	6.723e-05	0.0001	3.516e-05	2.616e-05	6.804e-05	5.087e-05	2.411e-05	0	0	0	0	0	0	0.0001	0	0	0.73	0.03811	T	0.239	0.25135	T	0.001	0.07471	B	0.002	0.06944	B	0.583346	0.11122	N	0.848527	1	0.08975	N	.	.	.	1.42	0.33189	T	-0.41	0.14390	N	0.079	0.05414	-0.9816	0.34632	T	0.042	0.17994	T	10	0.044078887	0.03326	T	0.002751	0.05694	T	0.010	0.01040	.	.	0.0954503805726	0.09146	0.05265415619597537	0.05207	0.0202712198182	0.01990	0.24178186059	0.02953	T	0.015351	0.12895	T	-0.472207	0.00823	T	-0.631356	0.10312	T	0.0133305931794151	0.00240	T	0.40416	0.10358	T	0.019250803	0.00453	0.020472312	0.00138	0.019250803	0.00453	0.020472312	0.00137	-5.068	0.38460	T	0.11986537840542535	0.11213	0.081	0.08948	B	.;.;.	.;.;.	0.848318	0.12204	8.749	0.72956238818526919	0.10156	0.06385	0.12387	N	AEFGBI	.	.	.	-0.947984500192329	0.09738	0.462201	-0.919458749730914	0.11636	0.5939728	0.163218720681022	0.17625	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	6.03	-0.22	0.12483	0.244000	0.17899	1.755000	0.28506	0.665000	0.62972	0.000000	0.06391	0.022000	0.20871	0.061000	0.16044	0.1039:0.1797:0.5301:0.1862	4.401	0.10816	689	0.59000	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2127.98	33	chr3	20174951	.	T	C	2127.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.087e+00;DP=874;ExcessHet=0.0000;FS=1.952;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.52;ReadPosRankSum=-9.930e-01;SOR=0.536	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr3	23919344	23919344	A	G	exonic	RPL15	.	nonsynonymous SNV	RPL15:NM_001253380:exon3:c.A458G:p.K153R	.	YES	435	1080	6	1	0	8	0.00369004	.	.	1386712	not_provided|Diamond-Blackfan_anemia_12	MedGen:C3661900|MONDO:MONDO:0014245,MedGen:C3809888,OMIM:615550,Orphanet:124	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	0.0	B	0.01	B	0.000	U	1.000	D	1.02	L	.	.	-0.952	T	0.143	T	0.635	2.800	15.33	5.78	2.212	4.332	11.866	0.139	.	8e-05	0.00199681	0.0002	0.0001	0	0	0	0.0001	0.0012	0.0008	0.0003842	10	26028	rs370700905	9.859e-05	9.85e-05	8.648e-05	0.0001	0.0015	8.51e-05	7.983e-05	0.0008	0.0008	2.989e-05	4.472e-05	0	0	0	0.0015	3.328e-05	0.0001	0.0010	0.0001	0.0001	0.0001	0.0002	0.0025	9.142e-05	7.699e-05	0.0014	0.0011	0	0	0.0001	0	0	0	0	0.0001	0	0.0025	0.113	0.28772	T	0.198	0.27767	T	0.0	0.02946	B	0.01	0.14941	B	0.000001	0.84330	U	0.000000	1	0.81001	D	1.23	0.30720	L	.	.	.	-1.3	0.36189	N	0.105	0.20129	-0.9517	0.40678	T	0.143	0.46422	T	9	0.013277203	0.00282	T	.	.	.	0.139	0.37390	.	.	0.705982711757	0.70342	0.4633412032959153	0.46253	1.28606242572	0.82666	0.723759055138	0.70595	T	0.144562	0.48124	T	-0.153842	0.27712	T	-0.116029	0.62127	T	0.0492620211402408	0.05370	T	0.877512	0.59164	D	0.15134814	0.34411	0.15274343	0.35924	0.16758646	0.37164	0.17138503	0.39317	-4.254	0.27527	T	0.3662132910263056	0.46219	0.077	0.12985	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.033164	0.40636	21.2	0.99731426161504688	0.82833	0.91925	0.54561	D	AEFDBHCI	0.902188	0.84977	D	-0.0224637617873429	0.40841	2.432322	0.176885967234947	0.48583	3.072311	0.99999999701248	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.698795	0.65105	0	0.638787	0.57140	0	.	.	5.78	5.78	0.91418	4.326000	0.59028	4.449000	0.43415	0.751000	0.87719	1.000000	0.71638	0.999000	0.35428	0.993000	0.69303	0.8693:0.0:0.0:0.1307	11.866	0.51770	583	0.69484	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	323.98	27	chr3	23919344	.	A	G	323.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.065e+00;DP=605;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=42.39;MQRankSum=-1.180e+00;QD=7.90;ReadPosRankSum=-7.360e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,570	20	0	1	0
chr3	25501231	25501231	G	A	exonic	RARB	.	nonsynonymous SNV	RARB:NM_000965:exon3:c.G356A:p.R119Q	Microphthalmia, syndromic 12, Autosomal recessive, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	2718054	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.884	P	0.655	P	0.000	D	1.000	D	2.025	M	-4.28	D	0.996	D	0.911	D	0.761	5.410	34	4.98	2.286	9.869	18.263	0.774	0.25960318637	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1292531557	7.55e-06	7.524e-06	6.829e-06	8.279e-06	0.0002	4.05e-06	2.96e-06	3.81e-06	2.76e-06	0	0	0	0	0	0.0002	8.105e-06	0	1.174e-05	6.581e-06	6.569e-06	1.286e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.071	0.39575	T	0.086	0.47828	T	.	.	.	.	.	.	0.000001	0.84330	D	0.000000	0.999978	0.58761	D	.	.	.	-4.28	0.97126	D	-3.31	0.65972	D	0.718	0.72299	0.996	0.97117	D	0.911	0.97046	D	10	0.85134387	0.84314	D	0.259603	0.89452	D	0.774	0.92419	0.62	0.75461	0.951177786065	0.95066	0.6641327596026594	0.66350	1.66441580669	0.89733	0.896315395832	0.96021	D	0.707943	0.91646	D	0.347536	0.86340	D	0.261435	0.86161	D	0.966794729232788	0.67698	D	0.911709	0.69499	D	.	.	.	.	.	.	.	.	-10.903	0.97270	D	.	.	0.730	0.74215	P	.;.;.;.	.;.;.;.	5.571965	0.92227	32	0.99957879315708476	0.99986	0.98791	0.86901	D	AEFBIJ	0.910625	0.86878	D	0.650071541545031	0.76371	6.474501	0.677397285497649	0.80665	7.349764	0.999999999999035	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	4.98	4.98	0.65679	10.003000	0.99689	11.795000	0.96485	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.263	0.89979	924	0.18029	Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type;Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type;.;Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1726.98	35	chr3	25501231	.	G	A	1726.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.406;DP=851;ExcessHet=0.0000;FS=2.199;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=-7.130e-01;SOR=0.509	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1277	20	0	1	0
chr3	25729293	25729293	C	G	exonic	NGLY1	.	nonsynonymous SNV	NGLY1:NM_001145293:exon10:c.G1397C:p.C466S	Congenital disorder of deglycosylation, Autosomal recessive	YES	457	1062	2	1	0	4	0.0018797	.	.	698016	Inborn_genetic_diseases|Congenital_disorder_of_deglycosylation|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0031376,MedGen:C3808991,OMIM:PS615273|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.000	N	1.000	D	-2.255	N	1.68	T	-0.923	T	0.014	T	0.073	-0.118	3.423	4.01	0.778	5.142	16.488	0.110	.	.	0.00239617	0.0012	0	9.311e-05	0	0	1.66e-05	0	0.0092	0.000925	143	154602	rs544148699	0.0004	0.0004	0.0002	0.0005	0.0073	0.0003	0.0003	0.0067	0.0065	3.519e-05	0	0	0	0	0.0002	3.909e-06	0.0005	0.0073	0.0003	0.0003	6.434e-05	0.0005	0.0089	0.0002	0.0002	0.0068	0.0061	2.409e-05	0	0	0	0	0	0	1.471e-05	0	0.0089	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000318	0.45977	N	0.258363	1	0.81001	D	-2.625	0.00040	N	1.68	0.27184	T	3.01	0.00194	N	0.099	0.10340	-0.9226	0.45196	T	0.014	0.05513	T	10	0.003987968	0.00077	T	.	.	.	0.110	0.31079	0.348	0.34436	0.176091768786	0.17195	0.36148572991701877	0.36062	0.0409017552141	0.04391	0.327602118254	0.14573	T	0.055066	0.29901	T	-0.613049	0.00121	T	-0.648813	0.09037	T	0.028942596615783	0.01828	T	0.532447	0.17709	T	0.05568484	0.10857	0.09527911	0.22589	0.04454942	0.07139	0.13820341	0.33011	-0.255	0.00453	T	0.021100557286842715	0.00008	0.054	0.00354	B	.;.;.;.;.	.;.;.;.;.	1.892893	0.24040	16.25	0.47006326778865609	0.03810	0.15211	0.18799	N	AEFBI	0.045898	0.07560	N	-0.849770547720229	0.12055	0.5853409	-0.511145068539721	0.21850	1.183995	0.999999044205979	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.82	4.01	0.45821	5.274000	0.65380	5.152000	0.47759	-0.121000	0.13915	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.2497:0.7503:0.0	16.488	0.84036	783	0.47268	.;Peptide N glycanase, PAW domain|Peptide N glycanase, PAW domain;.;Peptide N glycanase, PAW domain|Peptide N glycanase, PAW domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1551.98	34	chr3	25729293	.	C	G	1551.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.892e+00;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.51;ReadPosRankSum=1.87;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1272	20	0	1	0
chr3	25729308	25729308	G	A	exonic	NGLY1	.	nonsynonymous SNV	NGLY1:NM_001145293:exon10:c.C1382T:p.T461I	Congenital disorder of deglycosylation, Autosomal recessive	YES	492	1026	2	2	0	6	0.00291545	.	.	698017	Inborn_genetic_diseases|Congenital_disorder_of_deglycosylation|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0031376,MedGen:C3808991,OMIM:PS615273|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.43	T	0.001	B	0.004	B	0.844	N	1.000	N	-0.345	N	1.59	T	-0.991	T	0.027	T	0.136	-0.079	3.614	-0.623	-0.117	0.142	3.819	0.080	.	.	0.00239617	0.0012	0	0.0001	0	0	1.845e-05	0	0.0099	0.0006916	18	26028	rs564037973	0.0003	0.0004	0.0002	0.0004	0.0076	0.0003	0.0003	0.0069	0.0067	3.864e-05	0	0	0	0	0.0002	4.043e-06	0.0005	0.0076	0.0003	0.0003	6.437e-05	0.0005	0.0089	0.0002	0.0002	0.0068	0.0061	2.412e-05	0	0	0	0	0	0	1.472e-05	0	0.0089	0.33	0.13971	T	0.433	0.13595	T	0.001	0.07471	B	0.002	0.10090	B	0.844252	0.09011	N	0.942866	1	0.08975	N	0.705	0.18577	N	1.59	0.28836	T	-0.69	0.26200	N	0.164	0.17278	-0.9908	0.32398	T	0.027	0.11529	T	10	0.0030286908	0.00050	T	.	.	.	0.080	0.23350	0.595	0.72494	0.158396225186	0.15383	0.4291067421249582	0.42827	0.0377771353946	0.04010	0.357819229364	0.19067	T	0.059294	0.31076	T	-0.608345	0.00130	T	-0.642057	0.09520	T	0.00630600466582451	0.00070	T	0.741726	0.36078	T	0.017878447	0.00312	0.023690661	0.00382	0.019630216	0.00497	0.028196817	0.01033	-3.763	0.23563	T	0.14163011860036773	0.15948	0.083	0.09868	B	.;.;.;.;.	.;.;.;.;.	1.105629	0.14901	11.43	0.75644256329152415	0.11155	0.02817	0.07550	N	AEFBI	0.055207	0.10103	N	-1.07318041862596	0.07141	0.3308332	-1.01347629559088	0.09488	0.4723471	0.98303858940737	0.30494	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.82	-0.623	0.10976	0.097000	0.15007	1.444000	0.26551	0.676000	0.76740	0.001000	0.13787	0.870000	0.27582	0.848000	0.40082	0.4403:0.0:0.2844:0.2752	3.819	0.08343	783	0.47268	.;Peptide N glycanase, PAW domain|Peptide N glycanase, PAW domain;.;Peptide N glycanase, PAW domain|Peptide N glycanase, PAW domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1401.98	34	chr3	25729308	.	G	A	1401.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.262e+00;DP=764;ExcessHet=0.0000;FS=2.052;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.45;ReadPosRankSum=1.54;SOR=0.436	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1272	20	0	1	0
chr3	25783371	25783371	C	T	exonic	NGLY1	.	nonsynonymous SNV	NGLY1:NM_001145293:exon1:c.G20A:p.G7D	Congenital disorder of deglycosylation, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.322	B	0.094	B	0.000	D	0.999	D	1.1	L	1.38	T	-1.091	T	0.060	T	0.319	2.791	15.29	1.69	0.286	1.489	8.162	0.039	0.306447907773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.435e-06	1.368e-06	1.418e-06	1.452e-06	1.853e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.853e-06	0	0	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.322	0.33059	B	0.094	0.30180	B	0.000107	0.50451	D	0.078821	0.999242	0.46434	D	1.7	0.43825	L	1.33	0.35031	T	-0.44	0.18042	N	0.293	0.39457	-1.0910	0.05367	T	0.060	0.25127	T	10	0.14558926	0.27614	T	0.306448	0.91049	D	0.039	0.10176	0.103	0.01643	0.375861065471	0.37200	0.49272893511647664	0.49193	0.0424407759524	0.04572	0.878568768501	0.93767	D	0.124602	0.44975	T	-0.119476	0.33210	T	-0.409396	0.32295	T	0.86964076757431	0.51956	D	0.571043	0.27951	T	0.26190218	0.49249	0.36775404	0.62078	0.26190218	0.49249	0.36775404	0.62078	-4.937	0.38159	T	.	.	0.321	0.54609	B	.;.;.;.	.;.;.;.	3.010393	0.40256	21.1	0.99045190791513094	0.51118	0.47890	0.28084	N	AEFDBHCIJ	0.059561	0.11258	N	-0.501684269996728	0.22026	1.173202	-0.486220418856032	0.22532	1.224312	0.999999999986357	0.74766	0.468429	0.09910	2	0.504199	0.08210	0	0.47417	0.07244	0	0.241949	0.04745	2	.	.	3.54	1.69	0.23290	1.112000	0.30786	2.150000	0.30904	0.502000	0.22824	0.933000	0.32380	0.994000	0.32194	0.811000	0.38219	0.0:0.8041:0.0:0.1959	8.162	0.30365	587	0.69154	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	477.98	34	chr3	25783371	.	C	T	477.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.218e+00;DP=642;ExcessHet=0.0000;FS=1.234;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=0.289;SOR=0.511	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1047	20	0	1	0
chr3	25791687	25791687	A	T	exonic	OXSM	.	nonsynonymous SNV	OXSM:NM_001145391:exon2:c.A667T:p.I223L	.	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.863	P	0.81	P	0.000	D	1.000	D	2.295	M	.	.	-0.495	T	0.345	T	0.47	4.000	20.5	3.81	0.564	4.364	9.653	0.143	.	.	0.00279553	0.0012	0	0.0003	0.0003	0	1.498e-05	0	0.0084	0.0010931	169	154602	rs372030404	0.0006	0.0006	0.0003	0.0008	0.0084	0.0005	0.0005	0.0079	0.0077	2.987e-05	2.236e-05	0	0.0002	0	0.0002	5.396e-06	0.0012	0.0084	0.0004	0.0004	0.0002	0.0006	0.0108	0.0004	0.0003	0.0084	0.0076	2.404e-05	0	0.0007	0	0.0004	0	0	1.47e-05	0	0.0108	0.001	0.78490	D	0.026	0.67890	D	0.863	0.47474	P	0.81	0.58608	P	0.000000	0.84330	D	0.042070	1	0.81001	D	1.845	0.48678	L	.	.	.	-1.96	0.46146	N	0.497	0.54932	-0.4952	0.68822	T	0.345	0.71044	T	8	0.00834164	0.00189	T	.	.	.	0.143	0.38195	0.625	0.76028	0.336892272479	0.33291	0.9572568435362331	0.95710	0.336386006611	0.35634	0.379401683807	0.22172	T	0.298843	0.67139	T	-0.305051	0.08192	T	-0.204847	0.54187	T	0.108807511612149	0.13300	T	0.976902	0.91973	D	0.9317093	0.94408	0.7657584	0.86164	0.9317093	0.94409	0.7657584	0.86165	-5.8	0.44574	T	.	.	0.359	0.61607	A	.;.;.	.;.;.	3.351541	0.46229	22.3	0.98729626479076837	0.45333	0.89921	0.50708	D	AEBCI	0.606922	0.59708	D	-0.00375722051942801	0.41684	2.497815	0.0534405433855003	0.42239	2.551363	0.999982637627294	0.51787	0.608746	0.35421	0	0.627608	0.54475	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	6.16	3.81	0.43020	4.358000	0.59217	5.410000	0.48535	-0.070000	0.16343	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.8059:0.0:0.1941:0.0	9.653	0.39070	590	0.68897	Beta-ketoacyl synthase, N-terminal|Polyketide synthase, beta-ketoacyl synthase domain;.;Beta-ketoacyl synthase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1566.98	34	chr3	25791687	.	A	T	1566.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.97;DP=812;ExcessHet=0.0000;FS=0.659;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=-6.000e-02;SOR=0.617	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1126	20	0	1	0
chr3	27297207	27297207	T	C	exonic	NEK10	.	nonsynonymous SNV	NEK10:NM_152534:exon15:c.A1202G:p.N401S	.	.	433	1052	34	3	0	40	0.0186567	.	.	698020	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.11	T	0.011	B	0.014	B	0.006	N	1.000	D	1.155	L	0.83	T	-1.047	T	0.084	T	0.084	2.971	15.91	5.45	2.194	5.746	15.800	0.082	.	0.0094	0.00359425	0.0088	0.0036	0.0071	0.0002	0.0006	0.0133	0.0101	0.0023	0.0079559	1230	154602	rs141057699	0.0095	0.0096	0.0095	0.0095	0.0363	0.0094	0.0093	0.0322	0.0307	0.0030	0.0090	0.0556	0.0002	0.0009	0.0363	0.0096	0.0135	0.0026	0.0077	0.0077	0.0084	0.0070	0.0097	0.0074	0.0072	0.0088	0.0086	0.0029	0	0.0097	0.0602	0.0006	0.0002	0.0238	0.0094	0.0161	0.0029	0.121	0.27783	T	0.029	0.57104	D	0.011	0.15914	B	0.014	0.16862	B	0.005918	0.32413	N	0.344209	0.955034	0.37906	D	1.78	0.46185	L	0.83	0.47815	T	-2.22	0.49846	N	0.348	0.38950	-1.0467	0.15332	T	0.084	0.32900	T	10	0.005595118	0.00124	T	.	.	.	0.082	0.23913	.	.	0.677678353351	0.67494	0.3220118445769102	0.32114	0.186626053331	0.20973	0.480120301247	0.36073	T	0.003156	0.02556	T	-0.573194	0.00212	T	-0.585099	0.14094	T	0.0215633066248969	0.00860	T	0.79872	0.44736	T	0.03760478	0.04853	0.10064199	0.24069	0.03760478	0.04852	0.10064199	0.24068	-8.166	0.65063	D	.	.	0.096	0.15251	B	.;.	.;.	2.527921	0.32681	19.11	0.99135401927465194	0.53383	0.93977	0.59744	D	AEFBHCI	0.718791	0.66988	D	-0.00275865169944812	0.41732	2.501382	0.182280641476564	0.48875	3.09781	0.999984651320607	0.51787	0.554377	0.28877	0	0.573888	0.26702	0	0.615948	0.41167	0	0.567892	0.33627	0	.	.	5.45	5.45	0.79688	5.711000	0.68052	1.498000	0.26936	-0.690000	0.04136	1.000000	0.71638	0.973000	0.29867	0.551000	0.30197	0.0:0.0:0.0:1.0	15.800	0.78216	518	0.74548	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3745.08	33	chr3	27297207	.	T	C	3745.08	.	AC=2;AF=0.048;AN=42;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.96;SOR=0.882	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1267	20	1	0	0
chr3	27390041	27390041	G	A	exonic	SLC4A7	.	nonsynonymous SNV	SLC4A7:NM_001258379:exon21:c.C2866T:p.R956C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.875	H	-1.53	D	0.866	D	0.796	D	0.96	4.395	23.3	5.31	2.479	7.874	18.979	0.905	0.14159897657	.	0.000199681	8.261e-06	0	8.663e-05	0	0	0	0	0	1.29e-05	2	154602	rs529446183	2.055e-06	3.42e-06	0	4.131e-06	2.702e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.702e-06	0	0	1.314e-05	1.313e-05	2.572e-05	0	6.545e-05	2.18e-06	8.2e-07	.	.	0	0	6.545e-05	0	0	0	0	1.471e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.145	0.97549	H	-1.53	0.81559	D	-6.96	0.93544	D	0.761	0.85872	0.866	0.95222	D	0.796	0.93079	D	10	0.8766935	0.86962	D	0.141599	0.82401	D	0.905	0.97398	0.749	0.87988	0.795957356658	0.79406	0.951974660305073	0.95181	1.16929503989	0.79715	0.838315606117	0.87839	D	0.918887	0.98532	D	0.391804	0.89434	D	0.407888	0.92367	D	0.999805510044098	0.99090	D	0.994141	0.98325	D	0.8102762	0.84572	0.67338943	0.80829	0.8102762	0.84573	0.67338943	0.80830	-10.922	0.81848	D	.	.	0.977	0.93792	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	6.099518	0.94558	34	0.99933833683436968	0.99535	0.98281	0.81223	D	AEFDGBI	0.943787	0.95006	D	0.978054203241148	0.95030	13.24704	0.870917952889596	0.94175	12.56112	0.999998790241497	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.31	5.31	0.75063	6.577000	0.73916	10.008000	0.83078	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	18.979	0.92724	479	0.77495	Bicarbonate transporter, C-terminal;Bicarbonate transporter, C-terminal;Bicarbonate transporter, C-terminal;.;.;.;.;.;.;Bicarbonate transporter, C-terminal;Bicarbonate transporter, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	960.98	33	chr3	27390041	.	G	A	960.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.196;DP=774;ExcessHet=0.0000;FS=0.735;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.33;ReadPosRankSum=0.939;SOR=0.597	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1187	20	0	1	0
chr3	27484115	27484115	A	T	exonic	SLC4A7	.	nonsynonymous SNV	SLC4A7:NM_001258379:exon1:c.T12A:p.D4E	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.143	B	0.078	B	.	.	1.000	D	.	.	0.42	T	-0.972	T	0.176	T	0.06	0.724	7.850	-4.64	-0.463	-0.493	1.333	0.109	.	.	0.00159744	0.0091	0	0.0161	0	.	0	0	0.0123	0.0004657	72	154602	rs540556299	0.0004	0.0005	0.0002	0.0006	0.0084	0.0004	0.0004	0.0078	0.0076	3.884e-05	4.441e-05	0	0	0	0.0006	2.001e-06	0.0005	0.0084	0.0003	0.0003	0.0002	0.0004	0.0087	0.0002	0.0002	0.0066	0.0059	0	0	0	0	0	0	0	1.478e-05	0	0.0087	0.302	0.14400	T	0.807	0.04054	T	0.033	0.20350	B	0.005	0.11217	B	.	.	.	.	1	0.81001	D	.	.	.	-1.01	0.77206	T	-0.44	0.15782	N	0.035	0.01004	-0.9724	0.36691	T	0.176	0.52084	T	8	0.004274696	0.00086	T	.	.	.	0.109	0.30843	0.198	0.11110	0.134007934775	0.12933	0.10936974850207638	0.10865	.	.	.	.	.	.	.	.	-0.41242	0.01916	T	-0.359216	0.38143	T	0.0661104297318798	0.08095	T	0.641836	0.26051	T	.	.	.	.	.	.	.	.	-2.387	0.06695	T	.	.	0.083	0.09191	B	.;.;.;.;.;.	.;.;.;.;.;.	1.619645	0.20688	14.86	0.9147042564089195	0.20741	0.12922	0.17560	N	AEFDBHCI	0.080541	0.16287	N	-0.744187625820136	0.14792	0.7398571	-0.733978276889623	0.16116	0.8510647	0.999999898532294	0.74766	0.242642	0.04205	2	0.484254	0.07192	0	0.391439	0.06340	0	0.372554	0.06265	0	.	.	3.34	-4.64	0.03109	-0.009000	0.12703	1.320000	0.25596	0.557000	0.28285	0.988000	0.36536	1.000000	0.68203	0.046000	0.14843	0.2461:0.1845:0.3881:0.1812	1.333	0.02010	376	0.83959	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	459.98	33	chr3	27484115	.	A	T	459.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.070e-01;DP=708;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=1.31;SOR=0.784	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,937	20	0	1	0
chr3	27722024	27722024	T	G	exonic	EOMES	.	nonsynonymous SNV	EOMES:NM_001278182:exon1:c.A271C:p.S91R	.	.	345	1169	8	0	0	8	0.00341006	.	.	720389	not_provided|EOMES-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.22	T	0.001	B	0.003	B	0.009	N	0.955	D	0	N	-2.26	D	-0.743	T	0.420	T	0.082	0.837	8.380	3.95	1.655	0.502	9.145	0.254	0.726995101292	.	0.000399361	0.0029	0.0049	0	0	.	0.0048	0	0.0023	0.0003881	60	154602	rs529375594	0.0016	0.0015	0.0016	0.0016	0.0092	0.0015	0.0015	0.0071	0.0064	0.0004	0.0009	0.0059	3.055e-05	0.0004	0.0092	0.0015	0.0020	0.0024	0.0013	0.0013	0.0014	0.0012	0.0025	0.0011	0.0011	0.0016	0.0015	0.0004	0	0.0007	0.0055	0	0.0002	0.0103	0.0018	0.0038	0.0025	0.108	0.29420	T	0.573	0.10209	T	0.0	0.02946	B	0.0	0.01387	B	0.008640	0.01214	N	2.508740	0.955032	0.37906	D	-0.205	0.04094	N	-2.26	0.87433	D	-0.61	0.18042	N	0.123	0.17140	-0.7426	0.58319	T	0.420	0.76583	T	10	0.0067224205	0.00152	T	0.726995	0.97799	D	0.254	0.56428	0.314	0.28935	0.291402777868	0.28757	0.43889294874286017	0.43806	0.669915434888	0.59380	0.905077457428	0.96983	D	0.379502	0.74224	T	-0.422847	0.01641	T	-0.385715	0.35053	T	0.0163182275826269	0.00402	T	0.591441	0.21800	T	0.23035918	0.45790	0.3160335	0.57586	0.23035918	0.45790	0.3160335	0.57585	-5.267	0.39705	T	.	.	0.504	0.66441	A	.;.	.;.	2.287400	0.29252	18.06	0.95398298736680898	0.26846	0.23957	0.22242	N	ALL	0.145234	0.26839	N	-0.473406596401646	0.22955	1.229304	-0.30279825947541	0.28008	1.558316	0.999999953616338	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.606814	0.37721	0	0.603991	0.37454	0	.	.	3.95	3.95	0.44952	0.774000	0.26337	0.310000	0.17073	0.576000	0.29215	0.033000	0.20612	0.998000	0.33993	0.993000	0.69303	0.0:0.0:0.0:1.0	9.145	0.36092	906	0.23090	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	293.98	33	chr3	27722024	.	T	G	293.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.019e+00;DP=743;ExcessHet=0.0000;FS=2.709;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.44;ReadPosRankSum=-6.800e-02;SOR=0.365	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,101,1516	20	0	1	0
chr3	28340578	28340578	G	T	exonic	AZI2	.	nonsynonymous SNV	AZI2:NM_001134432:exon2:c.C40A:p.H14N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.998	D	0.995	D	0.000	D	1.000	D	1.845	L	.	.	-0.391	T	0.413	T	0.555	4.764	26.7	5.87	2.774	9.047	20.208	0.118	0.0115282889237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.0	0.92824	D	0.989	0.73220	D	0.783	0.83170	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.455	0.71248	M	.	.	.	-1.92	0.51319	N	0.797	0.79310	-0.3913	0.72301	T	0.413	0.76054	T	9	0.5455343	0.63962	D	0.011528	0.29247	T	0.118	0.32913	0.377	0.39156	0.63749958327	0.63451	0.6134447490811484	0.61276	0.462371291275	0.45773	0.76071190834	0.76034	T	0.320973	0.69211	T	0.100219	0.64316	D	-0.093819	0.63872	T	0.949539840221405	0.63135	D	0.849815	0.68653	T	0.31944692	0.54593	0.31610775	0.57594	0.31944692	0.54593	0.31610775	0.57593	-3.105	0.12665	T	.	.	0.828	0.81678	P	.;.;.;.;.;.	.;.;.;.;.;.	4.783085	0.77540	26.7	0.99210963071401848	0.55594	0.99131	0.91682	D	AEFBI	0.911322	0.87043	D	0.726410356527559	0.81363	7.504868	0.77578035571778	0.88066	9.444034	0.999999999999983	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.87	5.87	0.94266	9.169000	0.93936	11.897000	0.99249	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:1.0:0.0	20.208	0.98287	641	0.64016	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2815.08	40	chr3	28340578	.	G	T	2815.08	.	AC=2;AF=0.048;AN=42;DP=818;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.95;SOR=1.329	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	1	0	0
chr3	29880813	29880813	G	A	exonic	RBMS3	.	nonsynonymous SNV	RBMS3:NM_001177712:exon8:c.G779A:p.R260H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	.	.	1.000	N	.	.	1.77	T	-1.035	T	0.028	T	0.05	-0.594	1.342	-7.98	-3.424	-2.686	6.670	0.007	0.00207779122568	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1345436755	7.951e-06	7.525e-06	2.854e-06	1.318e-05	5.049e-05	4.27e-06	3.12e-06	1.678e-05	9.94e-06	3.168e-05	0	0	2.799e-05	0	0	4.637e-06	0	5.049e-05	6.576e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.454	0.08891	T	0.489	0.11586	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.77	0.25841	T	0.03	0.06612	N	0.041	0.01421	-1.0347	0.18951	T	0.028	0.12058	T	7	0.047828794	0.04153	T	0.002078	0.03828	T	0.007	0.00512	0.472	0.54699	0.158540857583	0.15491	.	.	.	.	.	.	.	.	.	.	-0.412588	0.01911	T	-0.81016	0.01661	T	0.0368006818978881	0.03121	T	0.386161	0.09499	T	.	.	.	.	.	.	.	.	-0.773	0.00780	T	.	.	0.090	0.12560	B	.	.	-0.823662	0.01061	0.046	0.81484133751689602	0.13708	0.00127	0.00790	N	AEFGI	0.019578	0.00693	N	-1.97695805283681	0.00237	0.01015725	-2.1327084685001	0.00158	0.006950906	0.998035306111438	0.36340	0.553676	0.25195	0	0.588015	0.36545	0	0.615948	0.41167	0	0.620846	0.47308	0	.	.	3.99	-7.98	0.01003	-2.712000	0.00888	-4.085000	0.02351	-2.772000	0.00192	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.1707:0.1996:0.5277:0.102	6.670	0.22254	969	0.06854	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2280.98	33	chr3	29880813	.	G	A	2280.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.57;DP=845;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=0.161;SOR=0.732	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1301	20	0	1	0
chr3	30728391	30728391	T	A	exonic	GADL1	.	nonsynonymous SNV	GADL1:NM_207359:exon15:c.A1417T:p.M473L,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.995	D	0.99	D	0.000	D	1.000	D	1.945	M	1.9	T	-1.008	T	0.144	T	0.795	5.408	34	6.02	2.311	7.698	16.545	0.339	0.0260842779726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.05	0.48080	T	0.995	0.67487	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	0.99998	0.54805	D	2.755	0.80505	M	1.9	0.23486	T	-2.78	0.58896	D	0.502	0.53445	-1.0077	0.27634	T	0.144	0.46587	T	10	0.5295273	0.63104	D	0.026084	0.49023	D	0.339	0.66106	0.712	0.84781	0.117506650769	0.11410	0.6983275464233277	0.69773	0.0593796571921	0.06593	0.697414040565	0.66770	T	0.15386	0.49490	T	0.108803	0.65226	D	-0.081488	0.64795	T	0.986639678478241	0.77303	D	0.908809	0.67676	D	0.76610404	0.81815	0.8243602	0.89819	0.76610404	0.81816	0.8243602	0.89820	-7.321	0.56345	T	.	.	0.415	0.60378	A	.	.	4.628858	0.73573	26.0	0.98278466786266672	0.39833	0.96990	0.72056	D	AEFHCI	0.909576	0.86638	D	0.700552038740836	0.79667	7.126614	0.721477596391144	0.84008	8.174299	0.999999999997744	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.48864	0.07692	0	0.645665	0.59343	0	.	.	6.02	6.02	0.97559	7.674000	0.83146	7.949000	0.75792	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.545	0.84275	877	0.30165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	719.98	34	chr3	30728391	.	T	A	719.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.720e-01;DP=783;ExcessHet=0.0000;FS=0.950;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=-2.038e+00;SOR=0.939	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1620	20	0	1	0
chr3	30778217	30778218	TC	-	exonic	GADL1	.	frameshift deletion	GADL1:NM_207359:exon14:c.1353_1354del:p.E451Dfs*12,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0006	0	0	0	0	0	0	0.0045	0.0005369	83	154602	rs375804706	0.0003	0.0003	0.0002	0.0005	0.0050	0.0003	0.0003	0.0046	0.0045	2.991e-05	0	0	2.521e-05	0	0.0003	5.402e-06	0.0005	0.0050	0.0002	0.0002	0.0001	0.0003	0.0058	0.0002	0.0001	0.0041	0.0036	2.407e-05	0	0.0001	0	0	0	0	0	0.0005	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	993.94	34	chr3	30778216	.	ATC	A	993.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.220;DP=772;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=-6.420e-01;SOR=0.637	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1004	20	0	1	0
chr3	30778259	30778259	C	T	exonic	GADL1	.	nonsynonymous SNV	GADL1:NM_207359:exon14:c.G1312A:p.A438T,	.	.	432	1084	6	0	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.004	B	0.001	N	1.000	D	-0.745	N	1.18	T	-1.037	T	0.020	T	0.218	0.380	6.061	3.86	1.213	3.300	9.603	0.050	0.00659389926062	0.0049	0.00199681	0.0037	0.0008	0.0017	0	0.0033	0.0054	0.0066	0.0018	0.0001921	5	26028	rs143542109	0.0052	0.0053	0.0051	0.0052	0.0056	0.0051	0.0050	0.0055	0.0054	0.0005	0.0023	0.0185	0	0.0034	0.0024	0.0056	0.0049	0.0026	0.0042	0.0042	0.0047	0.0037	0.0064	0.0039	0.0038	0.0059	0.0057	0.0010	0	0.0028	0.0202	0	0.0033	0.0034	0.0064	0.0038	0.0015	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.004	0.10090	B	0.000786	0.41772	N	0.241129	0.935291	0.26948	N	-0.15	0.04376	N	1.18	0.37746	T	1.62	0.00637	N	0.463	0.49965	-1.0374	0.18109	T	0.020	0.08593	T	10	0.010186911	0.00228	T	0.006594	0.17386	T	0.050	0.13987	.	.	0.0297737177859	0.01360	0.47175260623024184	0.47094	0.0095085458128	0.00866	0.435543239117	0.29967	T	0.008	0.07715	T	-0.540843	0.00331	T	-0.545935	0.17718	T	0.00757071028522608	0.00088	T	0.835117	0.50455	T	0.033086956	0.03459	0.07781945	0.17372	0.033086956	0.03458	0.07781945	0.17371	-2.701	0.07312	T	.	.	0.111	0.21541	B	.	.	2.551693	0.33031	19.22	0.38348791463395926	0.02581	0.77915	0.38368	D	AEFBI	0.174041	0.30115	N	-0.518554976326813	0.21480	1.140251	-0.241176085524428	0.30077	1.690382	0.98632270452313	0.31043	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	6.02	3.86	0.43689	3.394000	0.52294	3.323000	0.37562	0.597000	0.34315	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.0:0.7967:0.0:0.2033	9.603	0.38782	796	0.45353	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	696.98	34	chr3	30778259	.	C	T	696.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.280e-01;DP=771;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.25;ReadPosRankSum=-4.300e-02;SOR=0.745	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1004	20	0	1	0
chr3	30801025	30801025	C	A	exonic	GADL1	.	nonsynonymous SNV	GADL1:NM_207359:exon12:c.G1114T:p.D372Y,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	3.41	M	0.94	T	-0.144	T	0.303	T	0.357	4.753	26.6	5.47	2.571	7.487	19.317	0.561	.	0.0052	0.00439297	0.0014	0.0138	0.0011	0	0	0.0002	0.0022	6.057e-05	0.0013648	211	154602	rs61738477	0.0005	0.0005	0.0005	0.0004	0.0124	0.0005	0.0004	0.0114	0.0110	0.0124	0.0011	0.0013	0	0	0.0021	0.0001	0.0011	6.956e-05	0.0040	0.0040	0.0041	0.0039	0.0136	0.0038	0.0037	0.0126	0.0123	0.0136	0	0.0020	0.0009	0	0	0.0034	0.0002	0.0024	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.62929	D	0.052957	1	0.81001	D	3.69	0.94526	H	0.94	0.43672	T	-7.99	0.96426	D	0.965	0.97535	-0.1436	0.79076	T	0.303	0.67390	T	10	0.01490885	0.00313	T	.	.	.	0.561	0.82003	.	.	0.459729313489	0.45597	0.7278240969582181	0.72726	0.0574446770939	0.06361	0.84524166584	0.88895	D	0.227642	0.59298	T	-0.353625	0.04503	T	-0.269058	0.47914	T	0.12715553499872	0.15116	T	0.987101	0.95588	D	0.95801264	0.97080	0.918273	0.96276	0.95801264	0.97080	0.918273	0.96277	-13.758	0.92244	D	.	.	0.541	0.66419	A	.;.	.;.	5.469663	0.91256	32	0.99561973311622809	0.71831	0.98566	0.84167	D	AEFI	0.931686	0.92087	D	0.961916907303795	0.94446	12.76468	0.89364388396614	0.95290	13.48329	0.999999999899345	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.47	5.47	0.80345	7.568000	0.81546	4.932000	0.46138	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:1.0:0.0:0.0	19.317	0.94206	845	0.36510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	833.98	50	chr3	30801025	.	C	A	833.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.102e+00;DP=916;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=0.353;SOR=0.651	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr3	31615122	31615122	A	G	exonic	STT3B	.	nonsynonymous SNV	STT3B:NM_178862:exon6:c.A895G:p.I299V,	.	.	.	.	.	.	.	.	.	.	.	576105	not_specified|STT3B-congenital_disorder_of_glycosylation	MedGen:CN169374|MONDO:MONDO:0014271,MedGen:C2931007,OMIM:615597,Orphanet:370924	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.003	B	0.015	B	0.000	D	1.000	D	0.315	N	.	.	-0.998	T	0.101	T	0.615	1.156	9.706	5.42	2.063	9.339	15.457	0.334	0.00375907908595	0.0003	0.000199681	0.0003	9.737e-05	8.842e-05	0	0	0.0005	0.0011	0.0004	0.000304	47	154602	rs141238380	0.0002	0.0002	0.0002	0.0003	0.0036	0.0002	0.0002	0.0024	0.0021	0.0001	9.011e-05	0.0044	0	0	0.0036	8.657e-05	0.0005	0.0005	0.0001	0.0001	0.0002	6.729e-05	0.0002	9.162e-05	7.716e-05	0.0001	7.922e-05	0	0	6.551e-05	0.0020	0	0	0	0.0002	0	0.0002	0.829	0.02891	T	1.0	0.01155	T	0.003	0.11197	B	0.015	0.17295	B	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.115	0.04602	N	.	.	.	-0.45	0.14782	N	0.514	0.54496	-0.9976	0.30590	T	0.101	0.37316	T	9	0.017612785	0.00377	T	0.003759	0.08744	T	0.334	0.65620	.	.	0.352477664867	0.34857	0.17869378322898974	0.17788	0.746411170495	0.63544	0.832922875881	0.87010	D	0.095603	0.39655	T	-0.164939	0.26002	T	-0.156627	0.58654	T	0.102694493311986	0.12651	T	0.913109	0.69007	D	0.21388306	0.43779	0.20261052	0.44297	0.21388306	0.43779	0.20261052	0.44296	-2.661	0.06981	T	.	.	0.059	0.00780	B	.	.	3.004351	0.40157	21.1	0.85337261020628863	0.15830	0.97580	0.75684	D	AEFDGBCI	0.948813	0.96082	D	-0.181316931352221	0.33912	1.929504	0.0738886304119417	0.43241	2.629908	0.999999999996617	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.633917	0.49826	0	.	.	5.42	5.42	0.78666	9.246000	0.94587	9.275000	0.79667	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.457	0.75050	703	0.57489	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1571.98	34	chr3	31615122	.	A	G	1571.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.290e-01;DP=841;ExcessHet=0.0000;FS=2.133;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=-1.832e+00;SOR=0.764	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1323	20	0	1	0
chr3	31990403	31990403	G	A	exonic	ZNF860	.	nonsynonymous SNV	ZNF860:NM_001137674:exon2:c.G1324A:p.V442I,	.	.	406	1093	22	1	0	24	0.0108597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.956	P	0.939	D	.	.	1.000	P	1	L	2.17	T	-1.059	T	0.001	T	0.043	0.179	4.964	0.336	0.385	0.236	.	0.025	.	0.0009	0.0393371	0.0148	0.0013	0.0068	0.1224	0.0079	0.0013	0.0100	0.0331	0.013538	2093	154602	rs79295539	0.0056	0.0056	0.0048	0.0063	0.1019	0.0054	0.0054	0.0992	0.0981	0.0010	0.0055	0	0.1019	0.0083	0.0087	0.0006	0.0084	0.0283	0.0055	0.0056	0.0043	0.0066	0.0923	0.0051	0.0050	0.0849	0.0820	0.0010	0.0022	0.0050	0	0.0923	0.0081	0.0103	0.0008	0.0082	0.0279	0.126	0.27194	T	0.259	0.23097	T	0.956	0.54666	P	0.939	0.67449	D	.	.	.	.	1	0.08975	P	0.49	0.13296	N	2.17	0.19020	T	-0.75	0.21003	N	0.005	0.00034	-1.0590	0.12007	T	0.001	0.00318	T	6	0.002504468	0.00038	T	.	.	.	0.025	0.05312	.	.	.	.	0.014765551030179415	0.01433	0.144387688307	0.16313	0.29153418541	0.09145	T	0.003645	0.03050	T	-0.753551	0.00017	T	-0.768347	0.02823	T	0.0157454019745825	0.00365	T	0.454055	0.12934	T	0.07960745	0.18197	0.07611527	0.16827	0.07960745	0.18197	0.07611527	0.16827	-3.775	0.20432	T	.	.	0.109	0.20896	B	.	.	1.030601	0.14106	10.68	0.94573514009708215	0.25110	0.00465	0.02234	N	AEFBCI	0.015932	0.00328	N	-0.548754751026196	0.20522	1.082491	-0.838316985830647	0.13568	0.7046228	0.810192789762887	0.24341	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.567892	0.33627	0	.	.	0.336	0.336	0.15198	-0.504000	0.06456	-9.826000	0.00772	0.232000	0.18153	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	.	.	.	946	0.12043	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3665.98	33	chr3	31990403	.	G	A	3665.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.290e-01;DP=1785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.60;MQRankSum=-2.596e+00;QD=13.19;ReadPosRankSum=0.465;SOR=0.717	GT:AD:DP:GQ:PL	0/0:187,0:187:99:0,120,1800	20	0	1	0
chr3	31990450	31990450	T	G	exonic	ZNF860	.	nonsynonymous SNV	ZNF860:NM_001137674:exon2:c.T1371G:p.N457K,	.	.	398	1104	18	1	1	21	0.00897666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	.	.	1.000	N	-0.07	N	2.39	T	-0.953	T	0.002	T	0.041	0.222	5.197	0.336	0.327	-5.110	2.419	0.015	.	0.0177	0.0175719	0.0005	0.0066	0.0004	0	0	0	0	0	0.0011513	178	154602	rs144696614	0.0006	0.0006	0.0007	0.0005	0.0233	0.0006	0.0005	0.0219	0.0213	0.0233	0.0011	0	0	0	0.0012	1.375e-05	0.0015	2.484e-05	0.0043	0.0045	0.0047	0.0038	0.0151	0.0040	0.0039	0.0141	0.0137	0.0151	0	0.0023	0	0	0	0	8.839e-05	0.0039	0	0.121	0.27783	T	0.134	0.34241	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.05	0.04954	N	2.39	0.15724	T	-3.09	0.63438	D	0.124	0.11626	-0.9527	0.40503	T	0.002	0.00676	T	8	0.0025694072	0.00039	T	.	.	.	0.015	0.02232	0.376	0.38994	0.0666544352282	0.05500	0.02442042329240481	0.02393	0.191270352614	0.21451	0.354639679193	0.18602	T	0.005596	0.05051	T	-0.740714	0.00020	T	-0.825084	0.01352	T	0.00725243305885721	0.00083	T	0.0151985	0.00086	T	0.10068857	0.23776	0.0663581	0.13582	0.10068857	0.23776	0.0663581	0.13581	-6.77	0.52336	T	.	.	0.202	0.42706	B	.	.	0.136065	0.05307	1.800	0.502633418104522	0.04353	0.01561	0.05106	N	AEFBCI	0.034865	0.04394	N	-1.38762660372573	0.02753	0.1220231	-1.47576379948865	0.02544	0.117202	0.763878227592155	0.23556	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.567892	0.33627	0	.	.	0.336	0.336	0.15198	-2.864000	0.00793	-4.453000	0.02149	0.219000	0.18061	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.4617:0.0:1.0E-4:0.5382	2.419	0.04173	946	0.12043	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	5473.98	33	chr3	31990450	.	T	G	5473.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.770e-01;DP=1879;ExcessHet=0.0000;FS=1.884;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.89;MQRankSum=-1.459e+00;QD=17.89;ReadPosRankSum=-1.576e+00;SOR=0.810	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:187,0:187:99:.:.:0,120,1800	20	0	1	0
chr3	32239050	32239050	C	G	exonic	CMTM8	.	nonsynonymous SNV	CMTM8:NM_001320308:exon1:c.C78G:p.S26R	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.0	B	0.001	B	0.422	N	0.739	N	0	N	1.4	T	-1.109	T	0.015	T	0.175	3.015	16.06	4.68	2.138	4.862	17.195	0.056	.	.	0.00638978	0.0042	0	0	0.0650	0	0	0	0.0008	0.0018564	287	154602	rs76321736	0.0007	0.0008	0.0007	0.0008	0.0238	0.0007	0.0007	0.0225	0.0220	3.042e-05	7.094e-05	0	0.0238	0	0.0002	1.905e-05	0.0008	0.0012	0.0012	0.0013	0.0010	0.0015	0.0347	0.0011	0.0010	0.0305	0.0290	0	0	0.0001	0	0.0347	0	0	4.41e-05	0	0.0010	0.037	0.43085	D	0.088	0.40586	T	0.0	0.02946	B	0.0	0.01387	B	0.422322	0.12854	N	0.707951	0.823225	0.29750	N	0.345	0.11182	N	1.4	0.33630	T	-1.36	0.33798	N	0.332	0.37301	-1.1088	0.03174	T	0.015	0.05946	T	10	0.0025509596	0.00039	T	.	.	.	0.056	0.15993	0.252	0.19067	0.0675242888579	0.06100	0.6507230219995305	0.65008	0.211569426823	0.23658	0.673269033432	0.63304	T	0.018778	0.15081	T	-0.538248	0.00343	T	-0.515946	0.20706	T	0.0270107402315607	0.01546	T	0.611839	0.23263	T	0.36968896	0.58562	0.20763713	0.45030	0.36968896	0.58562	0.20763713	0.45029	-4.66	0.36677	T	.	.	0.471	0.63234	A	.;.	.;.	3.951328	0.57888	23.9	0.99107561876791939	0.52648	0.90413	0.51569	D	AEFDGBCI	0.630465	0.61180	D	-0.242588483749406	0.31401	1.760294	-0.0255566049744355	0.38564	2.273854	0.999999999924397	0.74766	0.72623	0.87236	0	0.491552	0.07993	0	0.594344	0.31042	0	0.372554	0.06265	0	.	.	4.68	4.68	0.58319	4.997000	0.63662	4.574000	0.43892	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	17.195	0.86772	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	452.98	33	chr3	32239050	.	C	G	452.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.364e+00;DP=764;ExcessHet=0.0000;FS=3.765;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.95;ReadPosRankSum=0.402;SOR=1.251	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1145	20	0	1	0
chr3	32441982	32441982	G	A	exonic	CMTM7	.	nonsynonymous SNV	CMTM7:NM_138410:exon2:c.G302A:p.R101H	.	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	1.0	D	0.988	D	0.003	N	0.591	N	2.19	M	1.73	T	-0.822	T	0.145	T	0.487	4.624	25.3	4.62	2.598	1.355	12.666	0.173	0.0141030235823	.	0.000998403	0.0004	9.612e-05	0	0.0030	0	7.497e-05	0	0.0007	0.0003105	48	154602	rs117098616	0.0002	0.0002	0.0002	0.0002	0.0026	0.0002	0.0002	0.0022	0.0020	0	0	0	0.0026	0	0	7.014e-05	0.0002	0.0008	0.0002	0.0002	0.0003	0.0002	0.0041	0.0002	0.0001	0.0027	0.0023	7.224e-05	0	0.0002	0	0.0041	0	0	7.351e-05	0	0.0004	0.137	0.61437	T	0.045	0.69154	D	0.972	0.57405	D	0.508	0.47889	P	0.003168	0.35330	N	0.255097	0.591321	0.31017	N	1.735	0.44892	L	1.73	0.26445	T	-2.98	0.76980	D	0.245	0.36674	-0.8222	0.53796	T	0.145	0.46895	T	10	0.007691711	0.00175	T	0.014103	0.33987	T	0.173	0.43840	.	.	0.467416895013	0.46368	0.2723671689394428	0.27149	0.683648424317	0.60180	0.394364714622	0.24283	T	0.056501	0.30306	T	-0.418102	0.01759	T	-0.373359	0.36496	T	0.122786092756153	0.14700	T	0.938306	0.76795	D	0.060439833	0.12401	0.06313402	0.12461	0.060439833	0.12400	0.06313402	0.12461	-8.375	0.63599	D	.	.	0.093	0.49969	B	.;.;.	.;.;.	4.090649	0.60926	24.3	0.9995462868072118	0.99969	0.76988	0.37806	D	AEFDBI	0.285922	0.39843	N	0.513610046158146	0.67895	5.143022	0.500281240433615	0.68012	5.161408	0.999999522487534	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.688494	0.62686	0	0.714379	0.83352	0	.	.	5.5	4.62	0.56946	1.293000	0.32959	3.885000	0.40262	0.618000	0.50648	0.925000	0.32113	1.000000	0.68203	0.815000	0.38403	0.0812:0.0:0.9188:0.0	12.666	0.56206	866	0.32446	Marvel domain|Marvel domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1205.98	34	chr3	32441982	.	G	A	1205.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.000e-03;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.31;ReadPosRankSum=-1.063e+00;SOR=0.776	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr3	33051775	33051775	T	C	exonic	GLB1	.	nonsynonymous SNV	GLB1:NM_001135602:exon6:c.A545G:p.N182S	GM1-gangliosidosis, type I, Autosomal recessive;GM1-gangliosidosis, type II, Autosomal recessive;GM1-gangliosidosis, type III, Autosomal recessive;Mucopolysaccharidosis type IVB (Morquio), Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	1881717	GM1_gangliosidosis|Mucopolysaccharidosis,_MPS-IV-B	MONDO:MONDO:0018149,MedGen:C0085131,Orphanet:354|MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010,Orphanet:309310,Orphanet:582	criteria_provided,_single_submitter	Pathogenic	.	.	.	.	.	.	.	.	0.1	T	0.999	D	0.957	D	0.000	D	1.000	D	2.065	M	-5.24	D	1.099	D	0.960	D	0.235	4.726	26.3	5.71	2.172	7.581	15.650	0.837	0.238503213061	.	.	8.317e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs781080459	1.368e-06	1.368e-06	0	2.75e-06	2.987e-05	2.3e-07	9e-08	.	.	2.987e-05	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.42199	D	0.046	0.53426	D	0.999	0.77913	D	0.957	0.69900	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-5.24	0.98905	D	-4.25	0.79316	D	0.934	0.93959	1.099	0.99607	D	0.960	0.98707	D	10	0.9799812	0.97948	D	0.238503	0.88590	D	0.837	0.94877	0.947	0.99346	0.997450325136	0.99742	0.9297148710068579	0.92949	0.472138376322	0.46452	0.577498972416	0.49734	T	0.709504	0.91702	D	0.161464	0.70337	D	-0.00584422	0.69957	D	0.956986546516418	0.64895	D	0.952005	0.94289	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.27732	B	.;.;.;.	.;.;.;.	4.197151	0.63305	24.6	0.9986227672858532	0.94093	0.99190	0.92559	D	AEFBI	0.955592	0.97354	D	0.755680592968838	0.83276	7.974788	0.752951828765005	0.86377	8.869797	0.999999999996419	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.71	5.71	0.89031	7.629000	0.82391	7.918000	0.74374	0.645000	0.52629	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.650	0.76836	762	0.50290	.;.;Glycoside hydrolase 35, catalytic domain;Glycoside hydrolase 35, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1361.98	42	chr3	33051775	.	T	C	1361.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.420e-01;DP=856;ExcessHet=0.0000;FS=0.730;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=-1.298e+00;SOR=0.822	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	20	0	1	0
chr3	33093643	33093643	C	T	exonic	TMPPE	.	nonsynonymous SNV	TMPPE:NM_001039770:exon2:c.G553A:p.A185T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.701	P	0.089	B	0.000	D	1.000	D	2.125	M	.	.	-0.920	T	0.118	T	0.375	0.757	8.008	5.17	1.542	3.595	9.928	0.158	0.0103358637783	7.7e-05	.	8.257e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs375586820	5.336e-05	5.336e-05	6.125e-05	4.538e-05	5.665e-05	4.344e-05	4.017e-05	4.525e-05	4.112e-05	2.987e-05	0	0	2.519e-05	0	0	5.665e-05	0.0002	3.478e-05	3.286e-05	3.283e-05	3.855e-05	2.69e-05	4.826e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	4.826e-05	0	0	0	0	0	0	4.41e-05	0	0	0.386	0.10980	T	0.398	0.15109	T	0.701	0.41872	P	0.089	0.29769	B	0.000011	0.62929	D	0.000000	1	0.81001	D	2.14	0.59869	M	.	.	.	-0.39	0.13611	N	0.192	0.21449	-0.9197	0.45594	T	0.118	0.41407	T	9	0.14002046	0.26618	T	0.010336	0.26763	T	0.158	0.41098	.	.	0.115124310173	0.11017	0.33267175447633673	0.33180	0.584409154258	0.54121	0.450790047646	0.32052	T	0.012612	0.11057	T	-0.0833604	0.39165	T	-0.293872	0.45367	T	0.192965358495712	0.20017	T	0.865313	0.56401	D	0.060755864	0.12503	0.07228482	0.15577	0.060755864	0.12503	0.07228482	0.15577	-2.662	0.16056	T	.	.	0.113	0.22135	B	.;.	.;.	2.653672	0.34557	19.66	0.95219739042360518	0.26438	0.85129	0.44236	D	AEFBCI	0.413587	0.48320	N	0.00246294394641658	0.41968	2.519907	0.0586765806927061	0.42492	2.571123	0.999998338301977	0.74766	0.651	0.46895	0	0.577304	0.33150	0	0.65145	0.50148	0	0.491896	0.07777	0	.	.	6.06	5.17	0.70848	3.656000	0.54207	4.917000	0.46007	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.130000	0.19568	0.1978:0.6705:0.1317:0.0	9.928	0.40672	753	0.51500	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1517.98	33	chr3	33093643	.	C	T	1517.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.978;DP=901;ExcessHet=0.0000;FS=0.661;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=0.728;SOR=0.788	GT:AD:DP:GQ:PL	0/1:72,57:129:99:1532,0,1923	20	0	1	0
chr3	33175029	33175029	T	C	exonic	SUSD5	.	nonsynonymous SNV	SUSD5:NM_015551:exon4:c.A455G:p.Q152R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.059	B	0.066	B	0.000	D	0.988	D	0.55	N	-0.12	T	-0.928	T	0.146	T	0.222	3.160	16.57	4.56	0.989	4.549	10.573	0.081	0.0359806037627	.	.	8.294e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs778940476	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	3.826e-05	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.23007	T	0.113	0.36901	T	0.059	0.23051	B	0.066	0.27432	B	0.000028	0.55875	D	0.121779	0.988429	0.40761	D	0.895	0.22405	L	-0.12	0.64630	T	-1.82	0.42763	N	0.49	0.52386	-0.9276	0.44487	T	0.146	0.47111	T	10	0.18815765	0.34358	T	0.035981	0.56695	D	0.081	0.23632	0.468	0.54052	0.431931272081	0.42809	0.7168502763282004	0.71628	0.0714642106299	0.08001	0.483111053705	0.36485	T	0.061487	0.31667	T	-0.100742	0.36302	T	-0.382485	0.35432	T	0.47034007501867	0.31543	T	0.666633	0.27564	T	0.10036485	0.23698	0.15352881	0.36072	0.10036485	0.23698	0.15352881	0.36072	-8.062	0.61492	D	.	.	0.110	0.21353	B	.	.	3.210957	0.43707	21.8	0.99458943976195435	0.65684	0.97655	0.76193	D	AEFDBI	0.644003	0.62041	D	-0.148991172746052	0.35276	2.024259	0.0359006205214932	0.41396	2.486232	0.99670565492384	0.34942	0.706548	0.73137	0	0.573888	0.26702	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.72	4.56	0.55644	4.533000	0.60328	4.117000	0.41952	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0733:0.0:0.9267	10.573	0.44404	716	0.55970	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1450.98	42	chr3	33175029	.	T	C	1450.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.510e+00;DP=922;ExcessHet=0.0000;FS=1.341;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.22;ReadPosRankSum=0.495;SOR=0.817	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1296	20	0	1	0
chr3	33865306	33865306	T	C	exonic	PDCD6IP	.	nonsynonymous SNV	PDCD6IP:NM_001162429:exon17:c.T2323C:p.S775P	.	.	429	1079	13	1	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.0	B	0.0	B	0.267	N	1.000	N	-0.49	N	3.11	T	-0.963	T	0.008	T	0.063	2.337	13.77	-5.49	-1.040	-0.203	9.024	0.034	0.00384375306974	.	0.000599042	0.0005	9.899e-05	0	0	0	0.0001	0.0011	0.0031	0.000414	64	154602	rs571028506	0.0002	0.0002	0.0001	0.0003	0.0030	0.0002	0.0002	0.0021	0.0019	0	4.795e-05	0.0002	0	1.877e-05	0.0030	4.351e-05	0.0003	0.0023	0.0001	0.0001	0.0001	0.0002	0.0025	9.141e-05	7.698e-05	0.0014	0.0011	7.216e-05	0	0	0.0006	0	0	0	5.88e-05	0	0.0025	0.382	0.11120	T	0.456	0.12740	T	0.0	0.02946	B	0.0	0.01387	B	0.266625	0.15209	N	0.643694	1	0.08975	N	0.2	0.09183	N	3.11	0.08194	T	0.29	0.04161	N	0.097	0.07811	-0.9629	0.38625	T	0.008	0.02801	T	10	0.0035126805	0.00063	T	0.003844	0.08992	T	0.034	0.08419	.	.	0.117191471859	0.11215	0.19248375286468503	0.19166	0.121399189347	0.13675	0.367700874805	0.20502	T	0.003028	0.02432	T	-0.693563	0.00040	T	-0.773335	0.02660	T	0.00718645225803834	0.00082	T	0.522848	0.17081	T	0.07473212	0.16792	0.06384683	0.12709	0.07473212	0.16791	0.06384683	0.12709	-2.674	0.07919	T	.	.	0.076	0.07985	B	.;.	.;.	0.835638	0.12070	8.626	0.97265547640877059	0.33112	0.04462	0.10069	N	AEFBI	0.175873	0.30306	N	-1.19071029038422	0.05140	0.2336036	-1.16550537404407	0.06494	0.3127728	0.774140314662092	0.23723	0.744818	0.98587	0	0.724815	0.89359	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.64	-5.49	0.02381	-0.115000	0.10713	-1.073000	0.06414	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.0:0.4318:0.2456:0.3225	9.024	0.35380	511	0.75131	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	730.98	39	chr3	33865306	.	T	C	730.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.071e+00;DP=769;ExcessHet=0.0000;FS=8.194;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=0.289;SOR=0.457	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1313	20	0	1	0
chr3	36829633	36829633	T	C	exonic	TRANK1	.	nonsynonymous SNV	TRANK1:NM_014831:exon22:c.A8608G:p.I2870V	.	.	437	1001	81	3	0	87	0.0416467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.0	B	0.0	B	0.521	N	1.000	N	0.55	N	2.0	T	-0.996	T	0.035	T	0.039	1.045	9.269	-2.89	-0.425	-0.071	10.658	0.031	.	0.0041	0.0091853	0.0086	0.0012	0.0027	0	0.0002	0.0061	0.0067	0.0353	0.0079883	1235	154602	rs147602680	0.0067	0.0067	0.0057	0.0077	0.0356	0.0066	0.0065	0.0345	0.0341	0.0009	0.0033	0.0053	2.519e-05	0.0004	0.0210	0.0053	0.0063	0.0356	0.0043	0.0043	0.0039	0.0048	0.0332	0.0041	0.0039	0.0290	0.0274	0.0010	0	0.0038	0.0049	0.0002	0.0008	0.0170	0.0052	0.0071	0.0332	0.196	0.20683	T	0.372	0.16376	T	0.0	0.02946	B	0.0	0.01387	B	0.520809	0.05201	N	1.404800	1	0.08975	N	0.69	0.16971	N	2.0	0.21473	T	0.02	0.06739	N	0.057	0.02861	-0.9958	0.31082	T	0.035	0.15074	T	10	0.0029999614	0.00049	T	.	.	.	0.031	0.07369	.	.	0.0986583533028	0.09354	0.07676767821433089	0.07612	0.145140460238	0.16409	0.310466110706	0.11977	T	0.027208	0.19973	T	-0.694287	0.00039	T	-0.744309	0.03712	T	0.00112084309542654	0.00011	T	0.558444	0.19458	T	0.047605358	0.08164	0.053054407	0.08861	0.047605358	0.08164	0.053054407	0.08861	-2.739	0.07636	T	.	.	0.071	0.04599	B	.;.	.;.	0.094974	0.04978	1.540	0.89386594739393521	0.18753	0.01778	0.05572	N	AEFDGBI	0.046980	0.07860	N	-1.01800290355481	0.08230	0.3851583	-1.02789908835854	0.09174	0.4549581	0.82360940086271	0.24567	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.17	-2.89	0.05326	-0.033000	0.12196	-3.041000	0.03115	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.927000	0.46353	0.0:0.4816:0.0:0.5184	10.658	0.44877	794	0.45591	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	5318.66	34	chr3	36829633	.	T	C	5318.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.400e-01;DP=931;ExcessHet=0.0000;FS=1.081;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=19.70;ReadPosRankSum=1.15;SOR=0.811	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1306	19	1	1	0
chr3	36856139	36856139	C	A	exonic	TRANK1	.	nonsynonymous SNV	TRANK1:NM_014831:exon12:c.G3451T:p.V1151L	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.775	P	0.557	P	0.000	D	0.998	D	2.395	M	-1.84	D	-0.123	T	0.307	T	0.665	3.458	17.71	5.36	2.688	4.408	12.787	0.635	.	.	0.00559105	0.0023	0	0	0.0231	0.0014	0.0007	0.0011	0.0012	0.0021086	326	154602	rs76739135	0.0015	0.0015	0.0014	0.0015	0.0427	0.0014	0.0014	0.0410	0.0403	0	0	0	0.0427	0.0015	0	0.0001	0.0015	0.0013	0.0011	0.0011	0.0010	0.0012	0.0238	0.0010	0.0009	0.0204	0.0191	0	0	0.0001	0	0.0238	0.0012	0	0.0003	0.0005	0.0021	0.014	0.53172	D	0.029	0.54541	D	0.775	0.44108	P	0.557	0.49454	P	0.000057	0.53742	D	0.000000	0.997832	0.44237	D	2.315	0.66250	M	-1.84	0.84195	D	-1.84	0.43149	N	0.572	0.59478	-0.1232	0.79560	T	0.307	0.67740	T	10	0.010493845	0.00233	T	.	.	.	0.635	0.86027	0.594	0.72371	0.646241729955	0.64331	0.3849234659611564	0.38407	0.632490284988	0.57180	0.782904088497	0.79367	T	0.091678	0.38846	T	-0.184683	0.23041	T	0.00983473	0.70972	D	0.0748960477702663	0.09321	T	0.90351	0.66162	D	0.24975628	0.47972	0.18368466	0.41374	0.24975628	0.47972	0.18368466	0.41373	-6.526	0.50487	T	.	.	0.452	0.62326	A	.;.	.;.	4.159476	0.62453	24.5	0.99715134815777295	0.81633	0.94068	0.60016	D	AEFBI	0.591992	0.58787	D	0.560801973233034	0.70744	5.546429	0.586147463555257	0.73946	6.054	0.983343397979028	0.30544	0.651	0.46895	0	0.633656	0.55848	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.36	5.36	0.76624	4.482000	0.59989	7.658000	0.64072	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.997000	0.79791	0.0:0.9247:0.0:0.0753	12.787	0.56891	512	0.75040	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2081.98	88	chr3	36856139	.	C	A	2081.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.305;DP=1553;ExcessHet=0.0000;FS=1.369;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.20;ReadPosRankSum=-1.670e+00;SOR=0.858	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr3	37012090	37012090	C	T	exonic	MLH1	.	nonsynonymous SNV	MLH1:NM_001354629:exon7:c.C569T:p.A190V	Colorectal cancer, hereditary nonpolyposis, type 2;Mismatch repair cancer syndrome, Autosomal recessive;Muir-Torre syndrome, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	483577	Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|Colorectal_cancer,_hereditary_nonpolyposis,_type_2	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MeSH:D003123,MedGen:C0009405|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310,Orphanet:144	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.567	P	0.366	B	0.000	D	1.000	D	2.57	M	-2.82	D	0.603	D	0.741	D	0.741	4.248	22.1	4.88	2.736	5.702	14.207	0.726	0.0749329687328	.	.	2.477e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs756045117	1.44e-05	1.71e-05	4.094e-06	2.48e-05	0.0002	9.25e-06	7.85e-06	0.0002	0.0001	0	0	0	0	0	0	0	1.658e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.17	0.38891	T	0.169	0.28678	B	0.178	0.35748	B	0.000008	0.62929	D	0.109676	1	0.81001	D	2.86	0.83026	M	-2.82	0.91192	D	-2.3	0.51157	N	0.435	0.48689	0.603	0.91943	D	0.741	0.91163	D	10	0.40252653	0.55667	T	0.074933	0.72164	D	0.726	0.90369	0.54	0.65161	0.898972531329	0.89797	0.5466586471506504	0.54591	0.102845666974	0.11638	0.612879633904	0.54722	T	0.690939	0.91013	D	0.0932745	0.63555	D	0.155885	0.80553	D	0.833164870738983	0.48778	D	0.964204	0.87634	D	0.40150243	0.60836	0.37823826	0.62906	0.40150243	0.60837	0.37823826	0.62906	-5.73	0.53181	T	0.25121524083131136	0.33995	0.096	0.16800	B	.;.	.;.	4.235274	0.64170	24.7	0.99831333125424948	0.91284	0.97837	0.77499	D	AEFBI	0.747239	0.68936	D	0.42868007069212	0.63005	4.526162	0.515356190392626	0.69022	5.301403	0.999999928680741	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.76	4.88	0.63131	5.820000	0.68932	5.832000	0.50172	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9287:0.0:0.0713	14.207	0.65281	253	0.90069	DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein family, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1868.98	39	chr3	37012090	.	C	T	1868.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.488e+00;DP=920;ExcessHet=0.0000;FS=1.834;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.84;ReadPosRankSum=-2.430e-01;SOR=0.561	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr3	37048583	37048583	A	G	exonic	MLH1	.	nonsynonymous SNV	MLH1:NM_001354625:exon14:c.A889G:p.I297V	Colorectal cancer, hereditary nonpolyposis, type 2;Mismatch repair cancer syndrome, Autosomal recessive;Muir-Torre syndrome, Autosomal dominant	YES	0	1521	1	0	0	1	0.000328623	.	.	50076	Mismatch_repair_cancer_syndrome_1|Muir-Torré_syndrome|Colorectal_cancer,_hereditary_nonpolyposis,_type_2|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|not_provided|Endometrial_carcinoma|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified	MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:252202|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:587|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310,Orphanet:144|MONDO:MONDO:0005835,MedGen:C4552100,Orphanet:144|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089|MeSH:D003123,MedGen:C0009405|MedGen:CN169374	reviewed_by_expert_panel	Likely_benign	.	.	.	.	.	.	.	.	0.77	T	0.007	B	0.016	B	0.000	D	0.999	N	0.41	N	-2.5	D	-0.861	T	0.265	T	0.517	2.111	13.02	0.59	-0.109	1.902	2.206	0.354	0.0207054543117	0.0032	0.00259585	0.0010	0.0083	0.0007	0	0	0.0005	0	0	0.0009896	153	154602	rs55907433	0.0005	0.0005	0.0006	0.0005	0.0097	0.0005	0.0005	0.0088	0.0085	0.0097	0.0007	0.0075	0	0	0.0026	7.376e-05	0.0015	5.797e-05	0.0028	0.0028	0.0029	0.0027	0.0086	0.0026	0.0025	0.0079	0.0076	0.0086	0	0.0010	0.0112	0	0	0.0034	0.0002	0.0019	0	0.74	0.48642	T	0.456	0.12740	T	0.0	0.02946	B	0.003	0.08700	B	0.000006	0.62929	D	0.169045	0.999767	0.22064	N	0.405	0.12330	N	-2.5	0.89219	D	-0.17	0.11366	N	0.821	0.81658	-0.8605	0.51227	T	0.265	0.63663	T	10	0.013260722	0.00282	T	0.020705	0.43358	T	0.354	0.67510	.	.	0.901459932798	0.90048	0.273864424661466	0.27299	0.0575164109144	0.06368	0.321152627468	0.13597	T	0.504615	0.82362	D	-0.262912	0.12561	T	-0.143467	0.59815	T	0.00240062695342619	0.00025	T	0.813119	0.46553	T	0.04714217	0.08008	0.04516058	0.06014	0.069246896	0.15154	0.030109012	0.01426	-3.305	0.25098	T	0.13712361065274772	0.15058	0.064	0.01645	B	.;.;.;.;.;.	.;.;.;.;.;.	1.662612	0.21203	15.10	0.96158690488055443	0.28890	0.78569	0.38783	D	AEFBCI	0.229315	0.35285	N	-0.800236246641248	0.13305	0.6544608	-0.630302471600393	0.18716	1.001059	0.706628753818308	0.22767	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.81	0.59	0.16642	1.917000	0.39626	0.879000	0.22379	-0.050000	0.17177	0.886000	0.31111	0.013000	0.20296	0.994000	0.71098	0.5115:0.2436:0.1279:0.1169	2.206	0.03695	154	0.93967	DNA mismatch repair protein Mlh1, C-terminal;DNA mismatch repair protein Mlh1, C-terminal;DNA mismatch repair protein Mlh1, C-terminal;DNA mismatch repair protein Mlh1, C-terminal;DNA mismatch repair protein Mlh1, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	2832.98	33	chr3	37048583	.	A	G	2832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.65;DP=908;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=1.11;SOR=0.713	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1326	20	0	1	0
chr3	37329075	37329075	A	T	exonic	GOLGA4	.	nonsynonymous SNV	GOLGA4:NM_002078:exon16:c.A6174T:p.R2058S	.	.	455	1036	27	4	0	35	0.0166113	.	.	166001	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.41	T	0.29	B	0.159	B	0.001	N	1.000	D	2.125	M	1.81	T	-1.066	T	0.038	T	0.193	1.783	11.92	5.7	2.175	2.732	11.071	0.103	.	0.0076	0.00938498	0.0070	0.0156	0.0036	0.0001	0.0002	0.0039	0.0090	0.0229	0.0066041	1021	154602	rs11924014	0.0056	0.0056	0.0049	0.0063	0.0344	0.0055	0.0054	0.0304	0.0289	0.0181	0.0038	0.0026	5.072e-05	0.0003	0.0344	0.0042	0.0061	0.0238	0.0079	0.0079	0.0078	0.0080	0.0224	0.0075	0.0074	0.0189	0.0177	0.0162	0	0.0063	0.0026	0.0004	0.0003	0.0374	0.0041	0.0076	0.0224	0.004	0.65419	D	0.006	0.70582	D	0.236	0.30770	B	0.11	0.31460	B	0.001272	0.39594	N	0.000000	0.936566	0.81001	D	2.045	0.56016	M	1.72	0.26588	T	-2.48	0.54059	N	0.445	0.48319	-1.0659	0.10339	T	0.038	0.16246	T	10	0.006607026	0.00150	T	.	.	.	0.103	0.29403	0.112	0.02175	0.346992582518	0.34303	0.341532120676236	0.34066	0.120382308291	0.13557	0.363515198231	0.19897	T	0.165586	0.51149	T	-0.498331	0.00584	T	-0.470341	0.25479	T	0.0281765396883818	0.01713	T	0.928407	0.73561	D	0.18168189	0.39350	0.18456519	0.41516	0.18168189	0.39350	0.18456519	0.41516	-3.646	0.20387	T	.	.	0.486	0.66824	A	.;.;.	.;.;.	3.224906	0.43955	21.8	0.98689621179436293	0.44738	0.92446	0.55731	D	AEFBI	0.554194	0.56514	D	-0.04092981129833	0.40009	2.368753	0.0529901764038133	0.42217	2.549674	0.999893492540626	0.45129	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.7	5.7	0.88690	2.706000	0.46803	8.014000	0.76202	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.731000	0.35132	0.928:0.0:0.072:0.0	11.071	0.47220	227	0.91186	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2783.08	39	chr3	37329075	.	A	T	2783.08	.	AC=2;AF=0.048;AN=42;DP=799;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.69;SOR=1.044	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	1	0	0
chr3	38007777	38007777	T	C	exonic	PLCD1	.	nonsynonymous SNV	PLCD1:NM_001130964:exon15:c.A2330G:p.D777G	Nail disorder, nonsyndromic congenital, 3, (leukonychia), Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.996	D	0.871	P	0.000	D	1.000	D	2.585	M	1.82	T	-0.843	T	0.146	T	0.651	3.811	19.35	5.01	2.020	4.889	10.033	0.250	0.0669384462643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.011	0.64786	D	0.996	0.68779	D	0.871	0.61869	P	0.000130	0.49741	D	0.203076	0.999939	0.51612	D	2.495	0.72670	M	1.78	0.25678	T	-3.37	0.68764	D	0.352	0.39659	-0.8428	0.52460	T	0.146	0.46967	T	10	0.3048461	0.48006	T	0.066938	0.70022	D	0.250	0.55888	0.431	0.48007	0.627195870872	0.62415	0.49758987617443856	0.49679	0.807291587251	0.66545	0.566183447838	0.48139	T	0.685537	0.90808	D	0.021851	0.54632	T	-0.206389	0.54039	T	0.985782146453857	0.76677	D	0.814719	0.46890	T	0.24314588	0.47250	0.23882036	0.49215	0.24314588	0.47250	0.23882036	0.49214	-6.15	0.47517	T	.	.	0.142	0.34427	B	.;.	.;.	4.152734	0.62308	24.4	0.99745181061800858	0.83852	0.95889	0.66590	D	AEFDBCI	0.506348	0.53711	D	0.601853758696996	0.73291	5.942306	0.561011747386206	0.72167	5.767304	0.99999998650527	0.74766	0.732398	0.92422	0	0.694456	0.67091	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.01	5.01	0.66477	5.284000	0.65431	4.231000	0.42652	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.764000	0.36293	0.0:0.0811:0.0:0.9189	10.033	0.41282	580	0.69689	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1118.98	34	chr3	38007777	.	T	C	1118.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.85;DP=787;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-2.073e+00;SOR=0.776	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1010	20	0	1	0
chr3	38016567	38016567	C	T	exonic	PLCD1	.	nonsynonymous SNV	PLCD1:NM_001130964:exon3:c.G415A:p.A139T	Nail disorder, nonsyndromic congenital, 3, (leukonychia), Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2392878	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.862	P	0.764	P	0.000	D	1.000	D	2.595	M	-0.34	T	-0.127	T	0.413	T	0.484	4.895	28.1	3.3	2.281	4.032	12.076	0.431	0.0472243517035	.	0.000199681	3.419e-05	0	0	0	0	6.144e-05	0	0	4.53e-05	7	154602	rs576674144	1.71e-05	1.71e-05	1.634e-05	1.788e-05	0.0001	1.174e-05	9.92e-06	5.396e-05	4.042e-05	0	0	0	0	0	0	1.349e-05	1.656e-05	0.0001	3.283e-05	3.281e-05	2.57e-05	4.029e-05	0.0002	1.26e-05	7.97e-06	1.972e-05	1.124e-05	0	0	0	0	0.0002	0	0	5.881e-05	0	0	0.002	0.72154	D	0.005	0.72224	D	0.565	0.38434	P	0.33	0.42079	B	0.000013	0.62929	D	0.112694	0.999862	0.51042	D	3.28	0.90206	M	-0.34	0.68474	T	-3.6	0.69357	D	0.44	0.47949	-0.1266	0.79481	T	0.413	0.76109	T	10	0.66490537	0.70370	D	0.047224	0.62824	D	0.431	0.73735	0.799	0.91874	0.832114414489	0.83052	0.5857191535782394	0.58501	0.372525074531	0.38744	0.451034426689	0.32085	T	0.789415	0.94514	D	-0.0496184	0.44507	T	-0.152684	0.59006	T	0.852343916893005	0.50369	D	0.726327	0.34071	T	0.4510655	0.64108	0.48853755	0.70404	0.4510655	0.64109	0.48853755	0.70405	-9.533	0.71064	D	0.5417880052819183	0.61135	0.182	0.53017	B	.;.	.;.	2.738956	0.35869	20.1	0.99905471450151206	0.97651	0.97580	0.75684	D	AEFBI	0.490362	0.52787	N	0.406359104145465	0.61773	4.382862	0.372748577841404	0.59888	4.170835	0.999999997853821	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.19	3.3	0.36912	4.107000	0.57547	1.438000	0.26503	0.599000	0.40250	0.999000	0.42656	0.271000	0.24048	0.842000	0.39752	0.0:0.9125:0.0:0.0875	12.076	0.52941	570	0.70478	.;Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2966.98	34	chr3	38016567	.	C	T	2966.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.365e+00;DP=897;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.76;ReadPosRankSum=0.307;SOR=0.663	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr3	38059757	38059757	G	A	exonic	DLEC1	.	nonsynonymous SNV	DLEC1:NM_001321153:exon3:c.G578A:p.R193K	Esophageal cancer, Autosomal dominant;Lung cancer, Autosomal recessive	.	9	1511	2	0	0	2	0.000661376	.	.	2827252	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.35	T	0.669	P	0.175	B	0.000	D	0.798	N	1.78	L	3.66	T	-1.064	T	0.013	T	0.55	3.148	16.53	4.09	1.261	3.298	11.016	0.087	.	0.0020	0.00279553	0.0008	0.0077	0.0014	0	0	0.0001	0.0011	0	0.0008538	132	154602	rs76603930	0.0003	0.0003	0.0004	0.0003	0.0083	0.0003	0.0003	0.0075	0.0072	0.0083	0.0010	7.653e-05	0	0	0.0023	9.083e-05	0.0008	1.159e-05	0.0020	0.0020	0.0020	0.0021	0.0067	0.0018	0.0018	0.0060	0.0058	0.0067	0	0.0010	0	0	0	0.0068	0.0001	0.0028	0	0.35	0.15717	T	0.022	0.57587	D	0.669	0.41149	P	0.122	0.35598	B	0.000485	0.43931	D	0.231910	0.797701	0.29152	N	2.365	0.68172	M	3.42	0.05507	T	-0.75	0.21644	N	0.519	0.54932	-1.0637	0.10855	T	0.013	0.04938	T	10	0.010219753	0.00228	T	.	.	.	0.087	0.25287	.	.	0.33085137897	0.32697	0.28653073296909315	0.28566	0.185099618086	0.20806	0.487592130899	0.37105	T	0.016035	0.13332	T	-0.460134	0.00981	T	-0.428319	0.30126	T	0.0215376068302143	0.00857	T	0.663534	0.27241	T	0.12221539	0.28724	0.1418799	0.33771	0.12221539	0.28724	0.1418799	0.33771	-3.372	0.14682	T	.	.	0.225	0.45617	B	.;.	.;.	3.245931	0.44328	21.9	0.98782519170558658	0.46159	0.80325	0.39993	D	AEFDI	0.497632	0.53207	N	0.0622528030188615	0.44709	2.739968	0.114043128224167	0.45265	2.792834	0.67018511718385	0.22366	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.99	4.09	0.47038	3.506000	0.53121	7.133000	0.57630	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.0:0.1879:0.8121:0.0	11.016	0.46905	620	0.66037	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1744.98	38	chr3	38059757	.	G	A	1744.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.004e+00;DP=857;ExcessHet=0.0000;FS=2.199;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=-1.123e+00;SOR=0.513	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1315	20	0	1	0
chr3	38109513	38109513	C	A	exonic	DLEC1	.	nonsynonymous SNV	DLEC1:NM_001321153:exon22:c.C3211A:p.Q1071K	Esophageal cancer, Autosomal dominant;Lung cancer, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.95	T	0.053	B	0.019	B	0.174	N	0.995	N	0.88	L	3.92	T	-0.958	T	0.011	T	0.072	-0.049	3.766	3.14	1.157	1.718	13.819	0.049	0.00390527420198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.73	0.05165	T	0.021	0.18474	B	0.012	0.16012	B	0.174173	0.17287	N	0.551536	0.995295	0.23326	N	1.01	0.25309	L	3.69	0.04114	T	0.6	0.03090	N	0.077	0.05162	-0.9581	0.39534	T	0.011	0.04088	T	10	0.055529058	0.06084	T	0.003905	0.09180	T	0.049	0.13647	0.454	0.51775	0.393927044628	0.39002	0.45866332059907416	0.45784	0.133755554543	0.15066	0.192900776863	0.00280	T	0.00553	0.04982	T	-0.347419	0.04891	T	-0.73682	0.04026	T	0.0577609166502953	0.06811	T	0.654235	0.26451	T	0.08297998	0.19140	0.07852713	0.17598	0.08297998	0.19140	0.07852713	0.17597	-4.471	0.30507	T	.	.	0.077	0.06525	B	.;.	.;.	1.293043	0.16940	12.86	0.76942930132240184	0.11672	0.45708	0.27598	N	AEFDBI	0.067414	0.13251	N	-0.609970861982123	0.18645	0.9695897	-0.417668265353115	0.24479	1.340656	0.985057769843436	0.30820	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.2	3.14	0.35196	1.163000	0.31408	2.795000	0.34819	-0.233000	0.07663	0.693000	0.28559	0.753000	0.26565	0.651000	0.32720	0.3551:0.6449:0.0:0.0	13.819	0.62798	557	0.71576	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1317.98	33	chr3	38109513	.	C	A	1317.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.68;DP=835;ExcessHet=0.0000;FS=1.367;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.62;ReadPosRankSum=-1.122e+00;SOR=0.830	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1404	20	0	1	0
chr3	38110178	38110178	C	T	exonic	DLEC1	.	nonsynonymous SNV	DLEC1:NM_001321153:exon23:c.C3349T:p.R1117C	Esophageal cancer, Autosomal dominant;Lung cancer, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.67	P	0.119	B	0.039	N	0.713	N	2.135	M	3.49	T	-1.039	T	0.016	T	0.187	1.812	12.02	-2.03	-0.656	-0.542	0.482	0.045	0.00305062194554	.	0.00139776	0.0005	0	8.642e-05	0.0062	0	8.998e-05	0	6.057e-05	0.0004398	68	154602	rs191665258	0.0002	0.0002	0.0003	0.0002	0.0055	0.0002	0.0002	0.0049	0.0047	5.974e-05	4.472e-05	0	0.0055	3.746e-05	0	8.004e-05	0.0003	3.478e-05	0.0003	0.0003	0.0003	0.0004	0.0069	0.0003	0.0002	0.0051	0.0045	7.217e-05	0	0	0	0.0069	0	0	0.0002	0	0.0004	0.051	0.39334	T	0.002	0.79402	D	0.67	0.41173	P	0.119	0.32162	B	0.038972	0.24223	N	0.426070	0.71341	0.29992	N	1.435	0.35949	L	3.24	0.06845	T	-4.64	0.79915	D	0.204	0.24385	-1.0387	0.17709	T	0.016	0.06569	T	10	0.0061564147	0.00139	T	0.003051	0.06577	T	0.045	0.12272	.	.	0.236890367714	0.23314	0.7530497539487959	0.75251	0.175439772078	0.19750	0.295730113983	0.09766	T	0.138329	0.47176	T	-0.623789	0.00104	T	-0.665777	0.07882	T	0.0928305986684289	0.11550	T	0.751925	0.37414	T	0.08528829	0.19778	0.11973679	0.28899	0.08528829	0.19778	0.11973679	0.28898	-8.849	0.68140	D	.	.	0.092	0.13690	B	.;.	.;.	1.481155	0.19065	14.07	0.97932849274159528	0.36971	0.03921	0.09309	N	AEFDBI	0.104690	0.20940	N	-0.793042451904238	0.13491	0.6649493	-0.913654119509736	0.11772	0.601744	0.974785716417774	0.29573	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.97	-2.03	0.06959	-0.323000	0.08039	-0.160000	0.11332	-1.034000	0.01683	0.000000	0.06391	0.000000	0.08366	0.691000	0.33868	0.2383:0.2959:0.2324:0.2335	0.482	0.00512	557	0.71576	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2345.98	34	chr3	38110178	.	C	T	2345.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.118;DP=919;ExcessHet=0.0000;FS=1.657;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.91;ReadPosRankSum=0.241;SOR=0.655	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,106,1512	20	0	1	0
chr3	38117238	38117238	C	T	exonic	DLEC1	.	nonsynonymous SNV	DLEC1:NM_001321153:exon31:c.C4345T:p.R1449C	Esophageal cancer, Autosomal dominant;Lung cancer, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.39	M	2.71	T	-0.903	T	0.133	T	0.702	3.725	18.92	5.07	2.353	3.075	17.206	0.321	.	.	0.00219649	0.0006	0	0.0003	0	0	4.507e-05	0	0.0038	0.0005304	82	154602	rs551341227	0.0002	0.0002	0.0002	0.0003	0.0032	0.0002	0.0002	0.0029	0.0028	0	0.0001	0	2.519e-05	0	0.0003	3.237e-05	0.0002	0.0032	0.0002	0.0002	0.0001	0.0002	0.0052	0.0001	0.0001	0.0036	0.0031	0	0	6.533e-05	0	0	0	0	2.94e-05	0	0.0052	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.76	0.80626	M	2.41	0.15492	T	-5.43	0.87380	D	0.758	0.76388	-0.9030	0.47673	T	0.133	0.44564	T	10	0.022967905	0.00588	T	.	.	.	0.321	0.64318	.	.	0.699609318542	0.69701	0.6281091794052637	0.62743	0.61369338527	0.55926	0.503478765488	0.39312	T	0.260259	0.63162	T	-0.291353	0.09501	T	-0.192441	0.55361	T	0.26602834740154	0.23576	T	0.90031	0.65351	D	0.5468871	0.69782	0.40607944	0.64991	0.5468871	0.69783	0.40607944	0.64991	-4.894	0.35667	T	.	.	0.482	0.63745	A	.;.	.;.	4.855435	0.79407	27.1	0.99929298880264061	0.99279	0.85254	0.44370	D	AEFDBCI	0.441777	0.49978	N	0.678263549955905	0.78207	6.825518	0.620820585703555	0.76453	6.493955	0.999996906498657	0.74766	0.679555	0.55442	0	0.550933	0.16991	0	0.600882	0.32295	2	0.584449	0.35598	0	.	.	5.07	5.07	0.68106	2.583000	0.45759	4.731000	0.44554	0.587000	0.30956	0.981000	0.35396	1.000000	0.68203	0.945000	0.48827	0.0:1.0:0.0:0.0	17.206	0.86800	553	0.71930	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1719.98	33	chr3	38117238	.	C	T	1719.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.424;DP=842;ExcessHet=0.0000;FS=4.181;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=-2.120e-01;SOR=1.088	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1148	20	0	1	0
chr3	38126263	38126263	G	T	exonic	ACAA1	.	nonsynonymous SNV	ACAA1:NM_001607:exon9:c.C896A:p.P299H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.946	P	0.696	P	0.000	D	1.000	D	2.385	M	-3.04	D	0.646	D	0.816	D	0.621	4.485	24.0	4.47	1.247	9.466	13.943	0.636	0.256329730355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.904	0.53363	P	0.65	0.54017	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.295	0.65404	M	-3.04	0.92357	D	-7.94	0.96294	D	0.736	0.73645	0.646	0.92487	D	0.816	0.93816	D	10	0.8276622	0.81939	D	0.25633	0.89325	D	0.793	0.93188	0.458	0.52427	0.941738089817	0.94112	0.7760704479852467	0.77557	1.10480771897	0.77858	0.714927196503	0.69308	T	0.446858	0.78934	T	0.236345	0.77315	D	0.101717	0.77020	D	0.994072735309601	0.85163	D	0.981385	0.94382	D	0.8917105	0.90654	0.79614013	0.88028	0.8917105	0.90655	0.79614013	0.88029	-11.633	0.83017	D	.	.	0.248	0.48272	B	.;.	.;.	5.056307	0.84244	28.3	0.99622647155854815	0.75533	0.97671	0.76304	D	AEFDBCI	0.942913	0.94809	D	0.481386542325793	0.66002	4.894295	0.516764575384931	0.69119	5.314876	0.999999999857887	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.34	4.47	0.53770	9.598000	0.97461	9.667000	0.81209	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0732:0.0:0.9268:0.0	13.943	0.63573	553	0.71930	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2580.98	34	chr3	38126263	.	G	T	2580.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.120;DP=881;ExcessHet=0.0000;FS=1.285;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.13;ReadPosRankSum=-2.402e+00;SOR=0.808	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1470	20	0	1	0
chr3	38274346	38274350	CACCC	-	exonic	SLC22A13	.	frameshift deletion	SLC22A13:NM_004256:exon2:c.453_457del:p.T152Hfs*36,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	707.36	39	chr3	38274345	.	GCACCC	G,GC	707.36	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-2.454e+00;DP=1432;ExcessHet=0.3300;FS=115.223;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=0.95;ReadPosRankSum=2.80;SOR=9.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0:34:99:.:.:0,99,1424,99,1424,1424	18	0	1	0
chr3	38274347	38274350	ACCC	-	exonic	SLC22A13	.	frameshift deletion	SLC22A13:NM_004256:exon2:c.454_457del:p.T152Sfs*61,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	707.36	39	chr3	38274345	.	GCACCC	G,GC	707.36	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-2.454e+00;DP=1432;ExcessHet=0.3300;FS=115.223;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=0.95;ReadPosRankSum=2.80;SOR=9.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0:34:99:.:.:0,99,1424,99,1424,1424	18	0	1	0
chr3	38274349	38274349	C	0	exonic	SLC22A13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	524.24	39	chr3	38274349	.	C	*,CTGGG	524.24	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-8.390e-01;DP=1626;ExcessHet=0.3300;FS=132.304;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=0.70;ReadPosRankSum=2.74;SOR=10.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0:34:99:.:.:0,99,1424,99,1424,1424	18	0	1	0
chr3	38274349	38274349	-	TGGG	exonic	SLC22A13	.	frameshift insertion	SLC22A13:NM_004256:exon2:c.456_457insTGGG:p.L153Wfs*38,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	524.24	39	chr3	38274349	.	C	*,CTGGG	524.24	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-8.390e-01;DP=1626;ExcessHet=0.3300;FS=132.304;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=0.70;ReadPosRankSum=2.74;SOR=10.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0:34:99:.:.:0,99,1424,99,1424,1424	18	0	1	0
chr3	38274350	38274350	-	TGGGG	exonic	SLC22A13	.	frameshift insertion	SLC22A13:NM_004256:exon2:c.457_458insTGGGG:p.M154Gfs*62,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	150.94	39	chr3	38274350	.	C	CTGGGG	150.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.244e+00;DP=1045;ExcessHet=0.0000;FS=156.789;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.52;ReadPosRankSum=3.36;SOR=7.275	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1424	20	0	1	0
chr3	38306189	38306189	C	T	exonic	SLC22A14	.	nonsynonymous SNV	SLC22A14:NM_004803:exon1:c.C163T:p.L55F	.	.	423	1076	22	1	0	24	0.0110294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.823	P	0.434	B	0.002	N	1.000	N	1.335	L	0.99	T	-1.018	T	0.058	T	0.098	2.219	13.38	-2.51	-0.342	0.063	6.796	0.051	.	0.0078	0.00599042	0.0055	0.0078	0.0019	0	0.0012	0.0061	0.0055	0.0087	0.0056856	879	154602	rs112787944	0.0068	0.0068	0.0067	0.0068	0.0123	0.0067	0.0066	0.0100	0.0092	0.0083	0.0021	0.0049	2.519e-05	0.0011	0.0123	0.0073	0.0052	0.0097	0.0066	0.0066	0.0065	0.0067	0.0106	0.0062	0.0061	0.0085	0.0082	0.0093	0.0515	0.0039	0.0046	0	0.0008	0.0306	0.0062	0.0024	0.0106	0.005	0.63226	D	0.022	0.57587	D	0.823	0.45803	P	0.434	0.45506	B	0.002119	0.37227	N	0.285900	1	0.08975	N	1.935	0.51832	L	0.99	0.41750	T	-2.13	0.48354	N	0.046	0.06720	-1.0181	0.24334	T	0.058	0.24465	T	10	0.007861435	0.00179	T	.	.	.	0.051	0.14325	.	.	0.0401082797425	0.02173	0.5053995675289253	0.50461	0.295255755646	0.31929	0.277488410473	0.07145	T	0.008921	0.08152	T	-0.625384	0.00102	T	-0.661702	0.08151	T	0.0227254980599298	0.00991	T	0.635136	0.24942	T	0.08249428	0.19006	0.087984994	0.20486	0.08249428	0.19006	0.087984994	0.20485	-6.147	0.47493	T	.	.	0.145	0.32992	B	.;.	.;.	0.602540	0.09711	6.479	0.95674332711671883	0.27524	0.07980	0.13962	N	AEFDBI	0.087905	0.17823	N	-0.91505719070562	0.10490	0.5014964	-1.07753429307434	0.08143	0.399121	0.00131760683782161	0.08437	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.62	-2.51	0.05996	-0.250000	0.08849	0.241000	0.16308	-0.136000	0.12710	0.000000	0.06391	0.000000	0.08366	0.032000	0.13371	0.4566:0.1371:0.4062:0.0	6.796	0.22911	527	0.73864	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4977.11	38	chr3	38306189	.	C	T	4977.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.94;DP=1175;ExcessHet=0.1072;FS=0.778;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.31;ReadPosRankSum=1.09;SOR=0.635	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1295	19	0	2	0
chr3	38316356	38316356	C	T	exonic	SLC22A14	.	nonsynonymous SNV	SLC22A14:NM_004803:exon9:c.C1565T:p.S522L	.	.	420	1092	10	0	0	10	0.00455789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.105	B	0.075	B	0.434	N	1.000	N	0.805	L	-0.87	T	-0.950	T	0.186	T	0.298	-0.199	3.036	-7.15	-1.571	-0.241	8.348	0.230	0.0376042779347	0.0002	0.000399361	0.0003	0	0.0003	0	0	0.0005	0	0.0002	0.0003234	50	154602	rs114208565	0.0003	0.0003	0.0003	0.0003	0.0014	0.0003	0.0003	0.0007	0.0005	0	0.0006	0.0026	0	0	0.0014	0.0002	0.0005	0.0002	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	0	0	0.0003	0.0020	0	0	0.0034	0.0003	0.0005	0.0002	0.179	0.22053	T	0.208	0.26883	T	0.105	0.25993	B	0.075	0.28327	B	0.433562	0.12717	N	0.717397	1	0.08975	N	2.395	0.69210	M	-0.87	0.74583	T	-2.08	0.47514	N	0.141	0.20528	-0.9503	0.40920	T	0.186	0.53511	T	10	0.012195647	0.00263	T	0.037604	0.57720	D	0.230	0.53062	.	.	0.126345400529	0.12197	0.5692113325808656	0.56849	0.103224085065	0.11672	0.325457215309	0.14246	T	0.072234	0.34403	T	-0.352229	0.04588	T	-0.389696	0.34587	T	0.0304590083119495	0.02061	T	0.651635	0.26249	T	0.05686059	0.11243	0.10386161	0.24930	0.05686059	0.11242	0.10386161	0.24930	-4.532	0.31305	T	.	.	0.093	0.14062	B	.;.	.;.	0.229873	0.06111	2.557	0.40562412371357626	0.02870	0.00867	0.03440	N	AEFDBI	0.026854	0.02088	N	-1.55820446275771	0.01487	0.06492294	-1.68663539190947	0.01197	0.05390796	0.965967003477489	0.28869	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.2	-7.15	0.01369	-0.154000	0.10116	-0.251000	0.10506	-1.807000	0.00617	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2372:0.4199:0.343	8.348	0.31448	557	0.71576	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	765.98	42	chr3	38316356	.	C	T	765.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.897;DP=836;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.57;ReadPosRankSum=-2.320e-01;SOR=0.686	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1325	20	0	1	0
chr3	38597917	38597917	G	T	exonic	SCN5A	.	nonsynonymous SNV	SCN5A:NM_000335:exon14:c.C2074A:p.Q692K	Atrial fibrillation, familial, 10, Autosomal dominant;Brugada syndrome 1, Autosomal dominant;Cardiomyopathy, dilated, 1E, Autosomal dominant;Heart block, nonprogressive, Autosomal dominant;Heart block, progressive, type IA, Autosomal dominant;Long QT syndrome-3, Autosomal dominant;Sick sinus syndrome 1, Autosomal recessive;Ventricular fibrillation, familial, 1	.	1	1511	10	0	0	10	0.00329815	.	.	78607	Cardiovascular_phenotype|Brugada_syndrome_1|not_provided|Long_QT_syndrome_3|Dilated_cardiomyopathy_1E|Ventricular_fibrillation,_paroxysmal_familial,_type_1|Cardiac_arrhythmia|Brugada_syndrome|Progressive_familial_heart_block,_type_1A|Sick_sinus_syndrome_1|Long_QT_syndrome|not_specified|Cardiomyopathy	MedGen:CN230736|MONDO:MONDO:0011001,MedGen:C4551804,OMIM:601144,Orphanet:130|MedGen:C3661900|MONDO:MONDO:0011377,MedGen:C1859062,OMIM:603830,Orphanet:101016,Orphanet:768|MONDO:MONDO:0011003,MedGen:C1832680,OMIM:601154,Orphanet:154|MONDO:MONDO:0011376,MedGen:C2751898,OMIM:603829,Orphanet:228140|EFO:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811|MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|MONDO:MONDO:0007240,MedGen:C1879286,OMIM:113900,Orphanet:871|MONDO:MONDO:0024562,MedGen:C1837845,OMIM:608567,Orphanet:166282|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.0	B	0.002	B	0.372	N	0.958	N	1.245	L	-3.68	D	0.062	D	0.746	D	0.711	1.417	10.67	1.95	0.211	-0.035	11.668	0.538	0.312933388748	0.0002	0.000199681	0.0003	0	0.0003	0	0	0.0005	0	0	0.000304	47	154602	rs45553235	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	0	0.0006	0.0026	0	1.873e-05	0.0014	0.0002	0.0005	6.956e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0001	0.0001	0	0	0.0003	0.0020	0	0	0.0102	0.0002	0.0009	0.0002	0.065	0.36310	T	0.677	0.06166	T	0.0	0.02946	B	0.0	0.06944	B	0.371739	0.13517	N	0.715661	0.957677	0.26253	N	0.71	0.18616	N	-3.68	0.95595	D	-1.11	0.33401	N	0.208	0.32481	0.062	0.83463	D	0.746	0.91316	D	10	0.042114347	0.02930	T	0.312933	0.91241	D	0.538	0.80664	.	.	0.976690773532	0.97644	0.8978174920946688	0.89752	0.444491301545	0.44356	0.403675973415	0.25581	T	0.429258	0.77812	T	-0.0222164	0.48538	T	0.0774827	0.75409	D	0.00775337267787807	0.00091	T	0.775922	0.40781	T	0.081142776	0.18629	0.10284355	0.24660	0.08313185	0.19182	0.11785347	0.28448	-6.135	0.47395	T	0.12970477601987612	0.13575	0.096	0.15251	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.643069	0.20970	14.99	0.93879375496908657	0.23895	0.68074	0.33666	D	AEFBI	0.316019	0.42043	N	-0.432132237670402	0.24351	1.314171	-0.33166829328936	0.27082	1.500316	0.145371832945725	0.17348	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.9	1.95	0.25130	-0.073000	0.11428	0.011000	0.13441	0.618000	0.50648	0.853000	0.30494	0.040000	0.21562	0.878000	0.41950	0.0:0.3911:0.4871:0.1217	11.668	0.50649	604	0.67577	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	2382.98	34	chr3	38597917	.	G	T	2382.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.449;DP=900;ExcessHet=0.0000;FS=1.114;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=-2.330e-01;SOR=0.587	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,101,1530	20	0	1	0
chr3	38603939	38603939	C	T	exonic	SCN5A	.	nonsynonymous SNV	SCN5A:NM_000335:exon12:c.G1663A:p.E555K	Atrial fibrillation, familial, 10, Autosomal dominant;Brugada syndrome 1, Autosomal dominant;Cardiomyopathy, dilated, 1E, Autosomal dominant;Heart block, nonprogressive, Autosomal dominant;Heart block, progressive, type IA, Autosomal dominant;Long QT syndrome-3, Autosomal dominant;Sick sinus syndrome 1, Autosomal recessive;Ventricular fibrillation, familial, 1	.	0	1521	1	0	0	1	0.000328623	.	.	78571	Brugada_syndrome_1|Cardiac_arrhythmia|Cardiovascular_phenotype|not_provided|Brugada_syndrome	MONDO:MONDO:0011001,MedGen:C4551804,OMIM:601144,Orphanet:130|EFO:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.995	D	0.040	N	1.000	D	2.755	M	-3.06	D	0.954	D	0.877	D	0.635	4.457	23.8	4.27	2.205	2.972	16.884	0.629	0.460083615958	.	0.000599042	4.995e-05	0.0004	0	0	0	0	0	0.0001	5.82e-05	9	154602	rs199473123	1.163e-05	1.163e-05	4.084e-06	1.925e-05	0.0002	7.09e-06	5.79e-06	4.579e-05	3.272e-05	5.974e-05	0	0	0	0	0.0002	4.497e-06	1.656e-05	9.275e-05	5.252e-05	5.249e-05	3.854e-05	6.714e-05	0.0002	2.555e-05	1.829e-05	6.266e-05	4.289e-05	0.0001	0	0	0	0.0002	0	0	0	0	0.0002	0.037	0.44358	D	0.083	0.42086	T	0.898	0.90584	P	0.195	0.83170	B	0.039749	0.24136	N	0.415067	0.999964	0.52935	D	2.465	0.71551	M	-3.06	0.92457	D	-3.05	0.62976	D	0.631	0.64478	0.954	0.96461	D	0.877	0.95921	D	10	0.27615353	0.45176	T	0.460084	0.94497	D	0.629	0.85718	.	.	0.75324006212	0.75100	0.8092902317948784	0.80884	0.551235762849	0.51968	0.533882558346	0.43582	T	0.69098	0.91014	D	-0.0116025	0.50042	T	0.0417496	0.73041	D	0.196749794771194	0.20235	T	0.922308	0.71764	D	0.22400846	0.45033	0.20896205	0.45220	0.26502788	0.49571	0.19445482	0.43069	-8.489	0.64396	D	.	.	0.127	0.28863	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.596498	0.50782	23.0	0.99932211864686404	0.99439	0.89287	0.49661	D	AEFDBI	0.707125	0.66196	D	0.449145083205835	0.64155	4.663737	0.40094875477072	0.61625	4.365141	0.999999999993327	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.27	4.27	0.50009	3.746000	0.54846	5.823000	0.50099	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.0:1.0:0.0:0.0	16.884	0.85936	721	0.55360	Voltage-gated Na+ ion channel, cytoplasmic domain;.;Voltage-gated Na+ ion channel, cytoplasmic domain;Voltage-gated Na+ ion channel, cytoplasmic domain;Voltage-gated Na+ ion channel, cytoplasmic domain;Voltage-gated Na+ ion channel, cytoplasmic domain;Voltage-gated Na+ ion channel, cytoplasmic domain;Voltage-gated Na+ ion channel, cytoplasmic domain;Voltage-gated Na+ ion channel, cytoplasmic domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2996.98	38	chr3	38603939	.	C	T	2996.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.75;DP=971;ExcessHet=0.0000;FS=1.618;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=0.660;SOR=0.830	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr3	38701841	38701841	G	A	exonic	SCN10A	.	nonsynonymous SNV	SCN10A:NM_001293307:exon25:c.C4361T:p.A1454V	Episodic pain syndrome, familial, 2, Autosomal dominant	.	347	1173	2	0	0	2	0.000851789	0.0006	0.096	239219	Brugada_syndrome|Cardiovascular_phenotype|Episodic_pain_syndrome,_familial,_2|not_provided	MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|MedGen:CN230736|MONDO:MONDO:0014246,MedGen:C3809893,OMIM:615551,Orphanet:306577|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.018	B	0.017	B	0.353	N	1.000	N	-0.7	N	-4.78	D	0.253	D	0.715	D	0.122	-1.942	0.007	-1.97	-0.042	0.725	9.860	0.317	0.0653395295858	.	.	4.325e-05	0	8.676e-05	0	0	3.06e-05	0	0.0002	3.23e-05	5	154602	rs756133876	4.353e-05	4.309e-05	4.937e-05	3.761e-05	0.0005	3.477e-05	3.16e-05	0.0001	7.615e-05	3.021e-05	2.301e-05	0	5.119e-05	0	0.0005	3.896e-05	0.0002	4.783e-05	5.253e-05	5.25e-05	7.709e-05	2.685e-05	0.0001	2.555e-05	1.829e-05	2.258e-05	9.06e-06	4.81e-05	0	0.0001	0	0	0	0.0034	2.94e-05	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.018	0.17786	B	0.017	0.18140	B	0.352825	0.04256	N	1.421980	1	0.08975	N	-1.035	0.01121	N	-4.78	0.98140	D	2.05	0.00383	N	0.226	0.25377	0.253	0.86800	D	0.715	0.90199	D	10	0.100078315	0.18202	T	0.06534	0.69550	D	0.317	0.63904	.	.	0.494634796122	0.49099	0.3393814706820322	0.33851	0.059770093673	0.06645	0.298433721066	0.10168	T	0.353859	0.72109	T	-0.116058	0.33770	T	-0.294427	0.45311	T	0.0197732285493768	0.00679	T	0.861414	0.55526	D	0.033112288	0.03467	0.05119859	0.08189	0.033112288	0.03467	0.05119859	0.08189	-1.448	0.01661	T	.	.	0.090	0.15296	B	.;.;.;.	.;.;.;.	2.990252	0.39923	21.1	0.17404773227477557	0.00506	0.01994	0.06016	N	AEFBI	0.063666	0.12317	N	-1.5223386615749	0.01703	0.07454712	-1.48380174020813	0.02477	0.1139795	0.00401831157916729	0.10381	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.81	-1.97	0.07091	0.912000	0.28220	-1.369000	0.05603	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.258000	0.23468	0.2784:0.24:0.4817:0.0	9.860	0.40278	807	0.43470	Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	4336.11	34	chr3	38701841	.	G	A	4336.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.80;DP=998;ExcessHet=0.1072;FS=4.388;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=0.931;SOR=0.926	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1214	19	0	2	0
chr3	39085577	39085577	C	T	exonic	WDR48	.	nonsynonymous SNV	WDR48:NM_001303402:exon13:c.C1195T:p.P399S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.187	B	0.079	B	0.000	D	1.000	D	0.455	N	1.29	T	-0.364	T	0.444	T	0.684	2.922	15.74	5.52	2.581	7.706	19.458	0.168	0.0343337019557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09048	T	0.743	0.04930	T	0.11	0.26188	B	0.079	0.28749	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.69	0.16971	N	1.29	0.35775	T	-0.6	0.17834	N	0.694	0.69913	-0.3645	0.73129	T	0.444	0.78106	T	10	0.35949832	0.52616	T	0.034334	0.55607	D	0.168	0.42943	0.203	0.11797	0.29893580763	0.29502	0.6026499381281193	0.60195	0.681907863845	0.60075	0.752926409245	0.74879	T	0.066906	0.33064	T	0.0384999	0.56849	T	-0.182474	0.56293	T	0.643223908680433	0.38174	D	0.959804	0.84855	D	0.30838647	0.53646	0.2144532	0.45996	0.30838647	0.53646	0.2144532	0.45995	-3.299	0.13724	T	.	.	0.078	0.06849	B	.	.	3.315289	0.45575	22.2	0.98063489540810356	0.37968	0.98863	0.87857	D	AEFBI	0.916700	0.88326	D	0.0230572866118074	0.42904	2.594016	0.245751948119286	0.52408	3.415821	0.999999999999992	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	7.793000	0.84418	7.709000	0.66702	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.458	0.94897	360	0.84920	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	654.98	34	chr3	39085577	.	C	T	654.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.060;DP=782;ExcessHet=0.0000;FS=2.989;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.80;ReadPosRankSum=0.018;SOR=0.645	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1256	20	0	1	0
chr3	39101071	39101071	G	A	exonic	GORASP1	.	nonsynonymous SNV	GORASP1:NM_001278789:exon2:c.C95T:p.A32V	.	.	416	1092	14	0	0	14	0.00636943	.	.	2827273	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	3.085	M	1.09	T	0.174	D	0.467	T	0.888	4.283	22.4	4.99	2.318	7.711	15.43	0.526	0.0686469416642	0.0043	0.00199681	0.0055	0.0013	0.0032	0	0.0039	0.0084	0.0056	0.0015	0.0055627	860	154602	rs61743223	0.0058	0.0058	0.0058	0.0058	0.0078	0.0057	0.0056	0.0065	0.0065	0.0006	0.0037	0.0065	2.519e-05	0.0046	0.0078	0.0066	0.0046	0.0016	0.0043	0.0043	0.0045	0.0041	0.0069	0.0041	0.0040	0.0063	0.0061	0.0011	0.0110	0.0030	0.0089	0	0.0038	0.0068	0.0069	0.0071	0.0010	0.001	0.78490	D	0.006	0.74150	D	0.998	0.90584	D	0.978	0.84481	D	0.000002	0.62929	D	0.099404	1	0.81001	D	3.575	0.93507	H	1.09	0.67011	T	-3.9	0.73788	D	0.861	0.87049	0.174	0.85466	D	0.467	0.79427	T	10	0.016513765	0.00348	T	0.068647	0.70508	D	0.526	0.79947	.	.	0.78019012614	0.77816	0.8234265704893947	0.82299	0.451247227632	0.44877	0.652100801468	0.60284	T	0.296374	0.79933	T	0.026475	0.55251	T	0.274648	0.86829	D	0.060574304240651	0.07258	T	0.992867	0.97673	D	0.7968173	0.83703	0.6958277	0.82091	0.7968173	0.83704	0.6958277	0.82092	-9.443	0.70504	D	.	.	0.875	0.82966	P	.;.;.;.;.	.;.;.;.;.	4.764593	0.77065	26.6	0.99922181327377657	0.98852	0.96283	0.68385	D	AEFDGBCI	0.930240	0.91724	D	0.672706016409155	0.77845	6.753676	0.521857658585025	0.69463	5.364013	0.999999998827916	0.74766	0.758104	0.99027	0	0.697927	0.68747	0	0.691618	0.62860	0	0.714379	0.83352	0	.	.	4.99	4.99	0.65942	7.861000	0.85420	11.726000	0.94905	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.170000	0.20979	0.0:0.139:0.861:0.0	15.43	0.74810	359	0.84979	GRASP55/65 PDZ-like domain;.;GRASP55/65 PDZ-like domain;GRASP55/65 PDZ-like domain;GRASP55/65 PDZ-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1826.98	37	chr3	39101071	.	G	A	1826.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.590e-01;DP=864;ExcessHet=0.0000;FS=2.267;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.96;ReadPosRankSum=1.43;SOR=0.487	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1274	20	0	1	0
chr3	39143393	39143393	G	A	exonic	CSRNP1	.	nonsynonymous SNV	CSRNP1:NM_001320559:exon5:c.C1492T:p.L498F	.	.	424	1051	45	2	0	49	0.0227801	.	.	166006	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.7	T	0.001	B	0.003	B	0.892	N	1.000	N	1.61	L	0.87	T	-0.992	T	0.057	T	0.024	-0.737	0.857	-1.03	-0.026	0.236	7.817	0.061	.	0.0051	0.00579073	0.0063	0.0013	0.0030	0.0002	0.0006	0.0063	0.0089	0.0167	0.0062871	972	154602	rs147162469	0.0067	0.0067	0.0063	0.0071	0.0258	0.0066	0.0066	0.0225	0.0212	0.0010	0.0032	0.0160	0.0001	0.0008	0.0258	0.0063	0.0069	0.0188	0.0048	0.0048	0.0049	0.0048	0.0147	0.0045	0.0044	0.0120	0.0109	0.0013	0.0824	0.0033	0.0196	0	0.0004	0.0170	0.0058	0.0066	0.0147	0.168	0.23007	T	0.377	0.16134	T	0.001	0.07471	B	0.003	0.08700	B	0.891722	0.08682	N	0.942455	1	0.08975	N	1.83	0.48079	L	0.87	0.46412	T	-1.18	0.30140	N	0.029	0.00666	-0.9916	0.32193	T	0.057	0.23980	T	10	0.002443254	0.00036	T	.	.	.	0.061	0.17616	.	.	0.171220215726	0.16700	0.08683155020011654	0.08617	0.275595305598	0.30031	0.320648282766	0.13520	T	0.157448	0.50005	T	-0.663042	0.00060	T	-0.710911	0.05248	T	0.00116828457777111	0.00011	T	0.60024	0.22396	T	0.045485523	0.07452	0.049600035	0.07614	0.045485523	0.07451	0.049600035	0.07614	-4.446	0.30176	T	.	.	0.066	0.02257	B	.;.	.;.	1.159448	0.15481	11.88	0.83339099341535916	0.14672	0.08042	0.14018	N	AEFDBHCI	0.097531	0.19669	N	-1.07311803704485	0.07142	0.3308889	-1.09388590543755	0.07820	0.3819119	0.999999053823196	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.37	-1.03	0.09586	0.650000	0.24544	1.896000	0.29550	-0.119000	0.14319	0.093000	0.22645	0.974000	0.29927	0.668000	0.33194	0.2303:0.2771:0.4926:0.0	7.817	0.28427	369	0.84396	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1838.98	34	chr3	39143393	.	G	A	1838.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=826;ExcessHet=0.0000;FS=3.071;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=-8.010e-01;SOR=0.989	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1099	20	0	1	0
chr3	39184021	39184021	G	A	exonic	XIRP1	.	nonsynonymous SNV	XIRP1:NM_001351377:exon2:c.C1474T:p.P492S	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.994	D	0.852	P	0.039	N	1.000	N	2.085	M	2.83	T	-0.840	T	0.238	T	0.792	1.658	11.50	3.37	1.118	2.682	7.271	0.281	0.0219274077588	.	0.000798722	0.0002	0	0.0002	0	0	0	0	0.0017	0.0002264	35	154602	rs555974071	9.721e-05	9.782e-05	5.721e-05	0.0001	0.0015	8.383e-05	7.921e-05	0.0013	0.0012	2.989e-05	2.238e-05	0	2.519e-05	0	0.0002	3.598e-06	4.974e-05	0.0015	6.563e-05	6.561e-05	2.569e-05	0.0001	0.0021	3.513e-05	2.613e-05	0.0011	0.0009	0	0	0	0	0	0	0	0	0	0.0021	0.0	0.91255	D	0.0	0.92824	D	0.994	0.66517	D	0.852	0.60758	P	0.038971	0.24223	N	0.402682	0.999736	0.48635	D	1.04	0.26193	L	2.83	0.53943	T	-3.1	0.93135	D	0.244	0.28381	-0.8396	0.52673	T	0.238	0.60523	T	10	0.011989474	0.00260	T	0.021927	0.44763	T	0.281	0.59861	0.417	0.45709	0.353336612579	0.34937	0.2484465102587459	0.24758	0.0742201116511	0.08323	0.315386533737	0.12721	T	0.51669	0.83019	D	-0.200904	0.20675	T	-0.0745907	0.65297	T	0.20402052214164	0.20636	T	0.589041	0.21605	T	0.12311175	0.28914	0.1927181	0.42801	0.15465237	0.34991	0.19955608	0.43842	-3.744	0.19970	T	.	.	0.105	0.39982	B	.;.	.;.	2.651222	0.34516	19.65	0.99758653343500525	0.84851	0.83288	0.42417	D	AEFDBHCI	0.372542	0.45815	N	0.162813634737149	0.49422	3.142656	-0.00526248135346427	0.39477	2.34128	0.999999952627651	0.74766	0.65861	0.49226	0	0.688826	0.66785	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	4.28	3.37	0.37692	2.640000	0.46245	4.105000	0.41886	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.139000	0.19909	0.0:0.1884:0.6171:0.1945	7.271	0.25432	449	0.79428	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	705.98	36	chr3	39184021	.	G	A	705.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.23;ReadPosRankSum=-1.175e+00;SOR=0.674	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1090	20	0	1	0
chr3	39184680	39184680	G	A	exonic	XIRP1	.	nonsynonymous SNV	XIRP1:NM_001351377:exon2:c.C815T:p.T272I	.	.	426	1093	3	0	0	3	0.00137049	.	.	720428	not_provided|XIRP1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.18	T	0.002	B	0.002	B	0.162	U	1.000	N	1.5	L	3.91	T	-1.027	T	0.033	T	0.063	1.460	10.82	0.452	-0.039	0.117	7.643	0.055	.	.	0.0105831	0.0056	0	0	0	0	2.997e-05	0.0022	0.0409	0.0049353	763	154602	rs367987838	0.0024	0.0024	0.0014	0.0034	0.0384	0.0023	0.0023	0.0373	0.0369	0.0002	0	0	7.557e-05	0	0.0009	2.428e-05	0.0029	0.0384	0.0014	0.0014	0.0006	0.0022	0.0428	0.0012	0.0012	0.0381	0.0362	4.811e-05	0	0	0	0	0	0	1.47e-05	0.0014	0.0428	0.007	0.59928	D	0.144	0.67890	T	0.002	0.09854	B	0.002	0.06944	B	0.162266	0.17626	U	0.562398	1	0.08975	N	1.95	0.52479	M	3.91	0.18083	T	-1.51	0.43906	N	0.037	0.01135	-1.0274	0.21299	T	0.033	0.14029	T	10	0.0019234419	0.00026	T	.	.	.	0.055	0.15663	0.328	0.31196	0.225215365344	0.22153	0.1671135550963803	0.16631	0.0729607557204	0.08176	0.301204442978	0.10581	T	0.132215	0.46217	T	-0.677721	0.00049	T	-0.716289	0.04977	T	0.0171126064956207	0.00457	T	0.40306	0.10319	T	0.069862105	0.15340	0.10463911	0.25137	0.07094698	0.15667	0.10463911	0.25136	-5.634	0.44478	T	.	.	0.140	0.35622	B	.;.	.;.	0.498979	0.08683	5.453	0.98687423878303482	0.44709	0.12249	0.17152	N	AEFBHCI	0.086322	0.17502	N	-0.764193074309983	0.14251	0.7083419	-0.786873862669531	0.14817	0.7761893	0.999953401891131	0.48110	0.525926	0.21836	0	0.615948	0.52940	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	4.37	0.452	0.15846	-0.055000	0.11763	-2.340000	0.03878	0.662000	0.56354	0.000000	0.06391	0.000000	0.08366	0.989000	0.64315	0.4888:0.0:0.5112:0.0	7.643	0.27470	455	0.79073	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2988.98	36	chr3	39184680	.	G	A	2988.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.102e+00;DP=1052;ExcessHet=0.0000;FS=0.478;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=0.045;SOR=0.635	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1090	20	0	1	0
chr3	39188811	39188811	-	G	exonic	XIRP1	.	frameshift insertion	XIRP1:NM_001198621:exon2:c.634dupC:p.Q212Pfs*16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3770.94	39	chr3	39188811	.	T	TG	3770.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.123;DP=1189;ExcessHet=0.0000;FS=4.302;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.39;ReadPosRankSum=-3.720e-01;SOR=0.903	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr3	39189094	39189094	C	T	exonic	XIRP1	.	nonsynonymous SNV	XIRP1:NM_001198621:exon2:c.G352A:p.V118M	.	.	427	1087	8	0	0	8	0.00366636	.	.	166002	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.973	D	0.011	U	0.999	N	1.1	L	3.67	T	-1.109	T	0.024	T	0.55	0.583	7.146	2.93	0.545	0.991	9.159	0.080	0.00819246268075	0.0011	0.00139776	0.0011	0.0004	0.0016	0	0	0.0017	0	0.0002	0.0011578	179	154602	rs115823205	0.0016	0.0016	0.0016	0.0016	0.0023	0.0015	0.0015	0.0017	0.0017	0.0003	0.0020	0.0026	2.519e-05	7.497e-05	0.0023	0.0018	0.0017	0.0005	0.0012	0.0012	0.0012	0.0011	0.0025	0.0010	0.0010	0.0019	0.0016	0.0003	0	0.0025	0.0017	0	0	0.0034	0.0016	0.0014	0.0006	0.002	0.72154	D	0.008	0.69154	D	1.0	0.90584	D	0.973	0.72923	D	0.010977	0.29712	U	0.271217	1	0.21117	N	1.79	0.46772	L	3.31	0.06291	T	-1.83	0.42957	N	0.442	0.48042	-1.1093	0.03130	T	0.024	0.10013	T	10	0.0061520934	0.00138	T	0.008192	0.21700	T	0.080	0.23350	.	.	0.319970858106	0.31615	0.3472835932198367	0.34642	0.351107696286	0.36959	0.407595276833	0.26123	T	0.310168	0.68214	T	-0.462163	0.00953	T	-0.443426	0.28424	T	0.0153514990771183	0.00342	T	0.80372	0.45098	T	0.1046573	0.24742	0.18562286	0.41686	0.11064026	0.26149	0.18174098	0.41056	-6.285	0.48603	T	.	.	0.131	0.32733	B	.;.	.;.	2.852507	0.37665	20.6	0.99687440656092441	0.79708	0.05955	0.11913	N	AEFDBI	0.111830	0.22127	N	-0.207499257138025	0.32826	1.855601	-0.389717538682408	0.25301	1.39064	0.999980291360488	0.51787	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.72	2.93	0.33092	1.000000	0.29371	2.163000	0.30996	0.599000	0.40250	0.116000	0.23103	0.975000	0.29991	0.006000	0.07323	0.0:0.8192:0.0:0.1808	9.159	0.36171	564	0.70960	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1914.98	39	chr3	39189094	.	C	T	1914.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.07;DP=964;ExcessHet=0.0000;FS=2.102;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=-6.020e-01;SOR=0.925	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr3	39389595	39389595	C	T	exonic	SLC25A38	.	nonsynonymous SNV	SLC25A38:NM_001354798:exon2:c.C170T:p.T57I	Anemia, sideroblastic, 2, pyridoxine-refractory, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.003	B	0.02	B	0.000	D	0.725	D	1.345	L	-1.19	T	-0.593	T	0.286	T	0.253	2.849	15.49	3.74	2.112	4.319	10.892	0.244	0.0283845753587	.	.	4.942e-05	0	0	0	0	2.997e-05	0.0011	0.0002	3.88e-05	6	154602	rs775205150	1.163e-05	1.163e-05	9.529e-06	1.375e-05	0.0002	7.08e-06	5.79e-06	8.885e-05	7.053e-05	0	0	0	0	0	0	2.698e-06	1.656e-05	0.0002	6.571e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.057	0.37966	T	0.121	0.35840	T	0.003	0.11197	B	0.02	0.19048	B	0.000033	0.55875	D	0.158228	0.724832	0.33656	D	1.005	0.25186	L	-1.19	0.78752	T	-2.32	0.51478	N	0.345	0.38643	-0.5932	0.65093	T	0.286	0.65812	T	10	0.31613728	0.49038	T	0.028385	0.51071	D	0.244	0.55061	0.541	0.65304	0.690602913374	0.68794	0.812531602802714	0.81209	0.286994345013	0.31096	0.671949386597	0.63115	T	0.171239	0.51928	T	-0.205459	0.20022	T	-0.273225	0.47493	T	0.137294475290165	0.16040	T	0.893511	0.63097	D	0.27785274	0.50842	0.19462019	0.43095	0.27785274	0.50842	0.19462019	0.43094	-9.924	0.73455	D	0.24123201788220155	0.32677	0.225	0.53648	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.028658	0.40563	21.2	0.99612461246257045	0.74873	0.92836	0.56664	D	AEFGBCI	0.543650	0.55889	D	-0.186577593640525	0.33692	1.914432	-0.0396017165835382	0.37944	2.228598	0.999999966733691	0.74766	0.67177	0.52595	0	0.685571	0.66316	0	0.702456	0.68683	0	0.662433	0.64102	0	.	.	4.63	3.74	0.42108	4.425000	0.59623	2.027000	0.30236	0.599000	0.40250	1.000000	0.71638	0.946000	0.28899	0.888000	0.42677	0.0:0.9039:0.0:0.0961	10.892	0.46207	779	0.47767	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2271.98	36	chr3	39389595	.	C	T	2271.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.557e+00;DP=892;ExcessHet=0.0000;FS=0.669;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.32;ReadPosRankSum=-2.680e-01;SOR=0.778	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,102,1299	20	0	1	0
chr3	40189855	40189855	G	A	exonic	MYRIP	.	nonsynonymous SNV	MYRIP:NM_001284426:exon8:c.G496A:p.G166R	.	.	432	1079	11	0	0	11	0.00507146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.000	D	1.000	D	1.83	L	1.56	T	-0.982	T	0.146	T	0.406	3.817	19.38	4.13	0.834	7.199	9.494	0.333	0.0505735074257	0.0002	.	0.0008	0	0.0002	0	0	0.0004	0	0.0041	0.0006598	102	154602	rs151142713	0.0004	0.0004	0.0003	0.0005	0.0066	0.0004	0.0004	0.0049	0.0044	0	8.957e-05	0	2.52e-05	3.759e-05	0.0066	0.0002	0.0006	0.0033	0.0002	0.0002	0.0002	0.0002	0.0023	0.0001	0.0001	0.0013	0.0010	0	0	0	0	0.0002	0	0	0.0002	0	0.0023	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.84330	D	0.054221	0.999707	0.48408	D	2.72	0.79541	M	1.56	0.29602	T	-4.35	0.79571	D	0.674	0.79792	-0.9821	0.34515	T	0.146	0.47038	T	9	0.022714823	0.00575	T	0.050574	0.64299	D	0.333	0.65522	0.465	0.53566	0.550717487069	0.54728	0.34709370442562215	0.34623	0.569308612202	0.53113	0.709820210934	0.68567	T	0.209256	0.56943	T	-0.363599	0.03930	T	-0.297797	0.44958	T	0.169856835708151	0.18571	T	0.90001	0.65919	D	0.591905	0.72254	0.5492331	0.73939	0.591905	0.72255	0.5492331	0.73939	-9.842	0.72960	D	.	.	0.581	0.74739	P	.;.;.;.;.	.;.;.;.;.	4.185683	0.63049	24.5	0.99867280516764223	0.94547	0.97607	0.75865	D	AEFBI	0.904244	0.85429	D	0.357511716201636	0.59138	4.090716	0.317366859466169	0.56559	3.819485	0.992772833971725	0.32963	0.651	0.46895	0	0.588066	0.40923	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.94	4.13	0.47661	7.575000	0.81761	11.742000	0.95215	-0.104000	0.15758	1.000000	0.71638	1.000000	0.68203	0.422000	0.27272	0.0747:0.0:0.7831:0.1421	9.494	0.38141	839	0.37672	Rab effector MyRIP/Melanophilin;Rab effector MyRIP/Melanophilin;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1773.98	35	chr3	40189855	.	G	A	1773.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.275;DP=865;ExcessHet=0.0000;FS=8.156;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=-1.896e+00;SOR=1.257	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1536	20	0	1	0
chr3	40462038	40462038	-	CTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTG:p.A159_K160insAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	3/3:0,0,0,72,0,0,0:72:99:3195,3197,3199,3197,3199,3199,214,216,216,0,3197,3199,3199,216,3199,3197,3199,3199,216,3199,3199,3197,3199,3199,216,3199,3199,3199	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTG:p.A159_K160insAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	3/3:0,0,0,72,0,0,0:72:99:3195,3197,3199,3197,3199,3199,214,216,216,0,3197,3199,3199,216,3199,3197,3199,3199,216,3199,3199,3197,3199,3199,216,3199,3199,3199	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTG:p.A159_K160insAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	3/3:0,0,0,72,0,0,0:72:99:3195,3197,3199,3197,3199,3199,214,216,216,0,3197,3199,3199,216,3199,3197,3199,3199,216,3199,3199,3197,3199,3199,216,3199,3199,3199	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTGCTG:p.A159_K160insAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	3/3:0,0,0,72,0,0,0:72:99:3195,3197,3199,3197,3199,3199,214,216,216,0,3197,3199,3199,216,3199,3197,3199,3199,216,3199,3199,3197,3199,3199,216,3199,3199,3199	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTGCTGCTG:p.A159_K160insAAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	3/3:0,0,0,72,0,0,0:72:99:3195,3197,3199,3197,3199,3199,214,216,216,0,3197,3199,3199,216,3199,3197,3199,3199,216,3199,3199,3197,3199,3199,216,3199,3199,3199	1	2	2	0
chr3	40488067	40488071	CTTAT	-	exonic	ZNF619	.	frameshift deletion	ZNF619:NM_001145083:exon4:c.1425_1429del:p.L476Ffs*21	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.238e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs769457170	1.026e-05	1.026e-05	1.089e-05	9.625e-06	0.0007	6.16e-06	4.89e-06	0.0002	0.0001	0	0	0	0	0	0.0007	7.194e-06	3.311e-05	1.159e-05	1.314e-05	1.313e-05	0	2.689e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3058.94	41	chr3	40488066	.	CCTTAT	C	3058.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=906;ExcessHet=0.0000;FS=1.955;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.88;ReadPosRankSum=2.16;SOR=0.714	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1314	20	0	1	0
chr3	40533016	40533016	C	T	exonic	ZNF621	.	nonsynonymous SNV	ZNF621:NM_001098414:exon5:c.C1246T:p.R416C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.939	P	0.326	B	0.825	N	1.000	N	0.55	N	3.24	T	-0.993	T	0.015	T	0.176	2.064	12.86	2.01	0.571	-1.762	3.452	0.010	0.0164194363904	.	.	0.0001	0	0	0	0	0.0001	0	0.0003	1.94e-05	3	154602	rs747015346	1.286e-05	1.231e-05	8.46e-06	1.739e-05	0.0002	8.04e-06	6.63e-06	0.0001	8.117e-05	0	0.0002	7.942e-05	0	0	0	3.707e-06	1.724e-05	3.786e-05	6.57e-06	6.566e-06	1.285e-05	0	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.007	0.78490	D	0.006	0.70582	D	0.939	0.52645	P	0.326	0.41929	B	0.824679	0.06904	N	1.121610	1	0.08975	N	0.895	0.22405	L	3.24	0.08810	T	-2.29	0.56144	N	0.076	0.06322	-0.9928	0.31880	T	0.015	0.05897	T	10	0.054667354	0.05855	T	0.016419	0.37668	T	0.010	0.01040	0.416	0.45544	0.263612267334	0.25957	0.2440493363284048	0.24318	0.245599816144	0.27083	0.237095862627	0.02535	T	0.08375	0.37125	T	-0.454767	0.01058	T	-0.606305	0.12287	T	0.0657258186810671	0.08037	T	0.90401	0.66351	D	0.08163529	0.18768	0.05802751	0.10653	0.08163529	0.18768	0.05802751	0.10653	-3.84	0.21403	T	.	.	0.134	0.33800	B	.;.;.	.;.;.	2.119683	0.26979	17.31	0.98134762212252324	0.38547	0.12288	0.17177	N	AEFBCI	0.049968	0.08687	N	-0.718814045540149	0.15493	0.7812864	-0.795771812427377	0.14599	0.7636061	0.00524035518973816	0.10872	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	3.83	2.01	0.25568	-0.504000	0.06456	0.031000	0.13732	0.577000	0.29297	0.000000	0.06391	0.000000	0.08366	0.806000	0.37994	0.202:0.5869:0.0:0.2111	3.452	0.07067	749	0.51929	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3432.98	35	chr3	40533016	.	C	T	3432.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.135e+00;DP=1007;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=1.73;SOR=0.676	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1212	20	0	1	0
chr3	41705058	41705058	G	A	exonic	ULK4	.	nonsynonymous SNV	ULK4:NM_001322501:exon26:c.C1874T:p.T625M	.	.	462	1052	7	1	0	9	0.00425935	0.9195	0.618	2366137	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.992	D	0.687	P	0.115	U	1.000	D	0.895	L	-0.18	T	-0.543	T	0.255	T	0.626	2.570	14.55	5.12	2.377	7.105	18.558	0.211	0.0271901580581	0.0003	0.000399361	0.0005	0	0	0	0.0002	0.0007	0	0.0007	0.000401	62	154602	rs201639701	0.0004	0.0004	0.0004	0.0004	0.0046	0.0004	0.0004	0.0032	0.0028	3.019e-05	6.889e-05	0	0	0.0001	0.0046	0.0004	0.0004	0.0012	0.0002	0.0002	0.0002	0.0003	0.0017	0.0002	0.0002	0.0008	0.0006	4.815e-05	0	6.536e-05	0	0	0.0004	0.0102	0.0002	0.0014	0.0017	0.038	0.42783	D	0.118	0.36233	T	0.992	0.64738	D	0.687	0.53665	P	0.114653	0.19267	U	0.452872	0.999894	0.50595	D	1.04	0.26193	L	-0.18	0.65747	T	-1.35	0.33598	N	0.675	0.68255	-0.5427	0.67062	T	0.255	0.62575	T	10	0.21222398	0.37675	T	0.02719	0.50027	D	0.211	0.50185	.	.	0.787557877294	0.78558	0.6274790581813261	0.62680	0.12484797569	0.14065	0.532669663429	0.43410	T	0.006138	0.05579	T	-0.218333	0.18221	T	-0.161811	0.58188	T	0.0873838773337145	0.10904	T	0.833117	0.50161	T	0.07644654	0.17289	0.14198221	0.33794	0.07644654	0.17288	0.14198221	0.33793	-4.293	0.28079	T	.	.	0.105	0.19073	B	.	.	5.145103	0.86152	28.8	0.99769695853680596	0.85750	0.97217	0.73382	D	AEFBI	0.734429	0.68056	D	0.418418943431622	0.62436	4.459353	0.418608260642314	0.62723	4.492773	0.990330232118494	0.32118	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.12	5.12	0.69459	7.233000	0.77589	8.450000	0.77217	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.0:1.0:0.0	18.558	0.91046	829	0.39537	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	840.98	33	chr3	41705058	.	G	A	840.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=748;ExcessHet=0.0000;FS=1.144;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.87;ReadPosRankSum=0.090;SOR=0.518	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1290	20	0	1	0
chr3	41715287	41715287	G	A	exonic	ULK4	.	stopgain	ULK4:NM_001322501:exon24:c.C1678T:p.R560X	.	.	440	1079	3	0	0	3	0.00138825	.	.	225811	ULK4-related_disorder|Intellectual_disability,_moderate	.|Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	U	1.000	D	.	.	.	.	.	.	.	.	.	12.107	46	5.62	2.647	1.711	19.657	.	.	0.0032	0.000199681	0.0027	0.0010	8.676e-05	0.0012	0.0060	0.0035	0.0033	0.0016	0.0026778	414	154602	rs199884004	0.0039	0.0039	0.0041	0.0037	0.0045	0.0038	0.0038	0.0044	0.0043	0.0006	0.0001	0.0021	0.0003	0.0054	0.0007	0.0045	0.0035	0.0018	0.0027	0.0027	0.0028	0.0026	0.0043	0.0025	0.0024	0.0039	0.0037	0.0011	0	0.0005	0.0009	0	0.0047	0	0.0043	0.0019	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	0.000001	0.84330	U	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.383	0.42443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295807	0.82628	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	10.448151	0.99748	47	0.99852155653353536	0.93102	0.88601	0.48605	D	AEFDI	0.145308	0.26849	N	0.808436302551278	0.86631	8.947759	0.692014076071162	0.81772	7.605485	0.999999997082964	0.74766	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.62	5.62	0.85714	1.913000	0.39587	9.902000	0.82357	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	19.657	0.95845	761	0.50382	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1584.98	33	chr3	41715287	.	G	A	1584.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.151e+00;DP=801;ExcessHet=0.0000;FS=2.918;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.86;ReadPosRankSum=1.28;SOR=0.400	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr3	41754410	41754410	A	G	exonic	ULK4	.	nonsynonymous SNV	ULK4:NM_001322501:exon21:c.T1366C:p.Y456H	.	.	427	1085	9	1	0	11	0.00504356	.	.	2210949	ULK4-related_disorder|not_specified	.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.48	T	0.007	B	0.004	B	0.017	U	1.000	D	0.69	N	-0.13	T	-1.018	T	0.112	T	0.38	0.278	5.505	3.97	1.914	3.895	5.164	0.090	0.0141539933439	0.0011	.	0.0006	0.0003	0.0003	0	0	0.0008	0.0011	0.0010	0.0005951	92	154602	rs200312148	0.0008	0.0008	0.0007	0.0008	0.0019	0.0007	0.0007	0.0011	0.0008	0.0002	0.0006	0	0	0	0.0019	0.0009	0.0006	0.0009	0.0005	0.0005	0.0004	0.0005	0.0010	0.0004	0.0004	0.0006	0.0005	0.0002	0	0.0004	0.0006	0	0	0	0.0008	0.0009	0.0010	0.503	0.07670	T	0.388	0.15602	T	0.007	0.14184	B	0.004	0.10090	B	0.016977	0.27840	U	0.271797	0.997665	0.22562	N	0.92	0.23413	L	-0.13	0.64818	T	-0.57	0.17210	N	0.458	0.49511	-1.0176	0.24495	T	0.112	0.40029	T	10	0.04132268	0.02778	T	0.014154	0.34071	T	0.090	0.26093	.	.	0.451213972277	0.44741	0.2544449249923426	0.25358	0.0428625080513	0.04625	0.509934425354	0.40213	T	0.005714	0.05159	T	-0.342968	0.05185	T	-0.334249	0.40994	T	0.0130988997798538	0.00230	T	0.783222	0.41972	T	0.06377514	0.13463	0.054908097	0.09533	0.06377514	0.13463	0.054908097	0.09532	-5.325	0.40190	T	.	.	0.132	0.28348	B	.	.	1.555082	0.19923	14.50	0.9079094983024093	0.20040	0.50353	0.28643	D	AEFI	0.104464	0.20901	N	-0.463199714713579	0.23293	1.249914	-0.346460815291903	0.26618	1.471486	0.0044859290616563	0.10581	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.11	3.97	0.45241	3.604000	0.53832	4.570000	0.43877	0.756000	0.94297	0.995000	0.38783	0.999000	0.35428	0.682000	0.33600	0.7394:0.0:0.2606:0.0	5.164	0.14403	706	0.57215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	740.98	33	chr3	41754410	.	A	G	740.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=830;ExcessHet=0.0000;FS=3.842;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.12;ReadPosRankSum=-2.000e-02;SOR=0.885	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,881	20	0	1	0
chr3	42210088	42210088	-	GGAGGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGAGGA:p.E624_G625insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	0/2:32,2,32,0,0:66:99:1243,1275,2809,0,1265,1250,1359,2721,1356,2794,1359,2721,1356,2794,2794	1	3	1	0
chr3	42210088	42210088	-	GGAGGAGGAGGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGAGGAGGAGGA:p.E624_G625insEEEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	0/2:32,2,32,0,0:66:99:1243,1275,2809,0,1265,1250,1359,2721,1356,2794,1359,2721,1356,2794,2794	1	3	1	0
chr3	42210088	42210088	-	GGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGA:p.E624_G625insE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	0/2:32,2,32,0,0:66:99:1243,1275,2809,0,1265,1250,1359,2721,1356,2794,1359,2721,1356,2794,2794	1	3	1	0
chr3	42223223	42223223	C	G	exonic	TRAK1	.	nonsynonymous SNV	TRAK1:NM_001349248:exon15:c.C2063G:p.P688R	.	.	421	1082	19	0	0	19	0.00870362	.	.	698084	TRAK1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	1.545	L	0.64	T	-0.692	T	0.181	T	0.478	3.601	18.33	4.45	1.271	5.805	13.001	0.236	0.0602834960965	0.0032	0.00159744	0.0040	0.0007	0.0016	0	0.0031	0.0055	0.0056	0.0038	0.0038227	591	154602	rs143591096	0.0046	0.0046	0.0046	0.0046	0.0102	0.0045	0.0045	0.0081	0.0074	0.0006	0.0025	0.0099	0	0.0046	0.0102	0.0049	0.0048	0.0037	0.0036	0.0036	0.0034	0.0037	0.0052	0.0033	0.0032	0.0043	0.0041	0.0008	0.0033	0.0052	0.0115	0	0.0044	0.0034	0.0047	0.0028	0.0025	0.105	0.63226	T	0.002	0.79402	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999772	0.48980	D	2.31	0.66127	M	0.64	0.52867	T	-4.18	0.78472	D	0.814	0.84090	-0.6917	0.60829	T	0.181	0.52798	T	10	0.014560461	0.00306	T	0.060283	0.67949	D	0.236	0.53931	.	.	0.814432940858	0.81269	0.6963725277447097	0.69578	0.93105587409	0.71815	0.663438677788	0.61900	T	0.698369	0.91292	D	-0.330531	0.06073	T	-0.246332	0.50178	T	0.0174422847877956	0.00481	T	0.953005	0.82069	D	0.25303912	0.48323	0.21788044	0.46470	0.27379662	0.50446	0.18927023	0.42263	-4.154	0.26082	T	.	.	0.693	0.72675	P	.;.;.	.;.;.	4.327590	0.66282	24.9	0.99842403403797753	0.92229	0.98629	0.84891	D	AEFDBI	0.698973	0.65648	D	0.48861473164218	0.66422	4.948293	0.4323055844489	0.63588	4.595643	0.999999758550495	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	4.45	0.53365	5.890000	0.69515	5.918000	0.51122	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.910000	0.44547	0.0:0.9221:0.0:0.0779	13.001	0.58084	667	0.61242	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2101.98	59	chr3	42223223	.	C	G	2101.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.442;DP=1054;ExcessHet=0.0000;FS=0.517;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.41;ReadPosRankSum=-9.500e-02;SOR=0.632	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr3	42397291	42397291	G	A	exonic	LYZL4	.	nonsynonymous SNV	LYZL4:NM_001304386:exon5:c.C415T:p.R139W	.	.	425	1092	5	0	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.973	D	0.389	N	0.780	N	2.175	M	0.86	T	-0.700	T	0.256	T	0.589	2.217	13.37	2.89	1.332	0.340	9.423	0.179	.	0.0002	0.00159744	0.0031	0.0006	0.0016	0	0	0.0003	0	0.0102	0.0009056	140	154602	rs138004276	0.0006	0.0006	0.0003	0.0009	0.0095	0.0006	0.0006	0.0089	0.0087	9.279e-05	0.0001	0	8.123e-05	0	0.0028	5.415e-05	0.0005	0.0095	0.0003	0.0003	0.0002	0.0004	0.0071	0.0003	0.0002	0.0052	0.0045	0.0002	0	6.538e-05	0	0	9.429e-05	0	8.82e-05	0.0005	0.0071	0.01	0.56456	D	0.027	0.55341	D	1.0	0.90584	D	0.973	0.72923	D	0.389053	0.13282	N	0.592403	0.77996	0.29344	N	2.87	0.83286	M	0.86	0.46777	T	-2.68	0.57275	D	0.715	0.71765	-0.6997	0.60453	T	0.256	0.62597	T	10	0.013158828	0.00280	T	.	.	.	0.179	0.44899	.	.	0.634904748024	0.63190	0.7144575453191662	0.71388	0.847429405182	0.68384	0.530724227428	0.43136	T	0.092617	0.39041	T	-0.393943	0.02536	T	-0.331684	0.41283	T	0.110055275520833	0.13429	T	0.724828	0.33863	T	0.07667175	0.17355	0.08060356	0.18247	0.07667175	0.17355	0.08060356	0.18247	-5.462	0.41511	T	.	.	0.289	0.52119	B	.;.	.;.	3.219503	0.43859	21.8	0.99827369673458943	0.90939	0.24294	0.22348	N	AEFDBI	0.194999	0.32205	N	0.17852302297527	0.50170	3.20952	0.0242087600576607	0.40842	2.443923	0.990863900237671	0.32294	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.9	2.89	0.32713	0.348000	0.19784	1.736000	0.28364	0.665000	0.62972	0.333000	0.25615	0.505000	0.25225	0.039000	0.14166	0.0:0.0:0.6126:0.3874	9.423	0.37724	872	0.31118	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	858.98	34	chr3	42397291	.	G	A	858.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=881;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.74;ReadPosRankSum=-3.440e-01;SOR=0.705	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr3	42637080	42637080	T	C	exonic	NKTR	.	nonsynonymous SNV	NKTR:NM_001349124:exon13:c.T1376C:p.I459T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.001	B	0.0	B	0.798	N	1.000	N	0.205	N	2.82	T	-0.953	T	0.016	T	0.028	-0.710	0.941	2.02	0.421	1.841	4.631	0.044	0.00289098595567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.578	0.10281	T	0.0	0.02946	B	0.0	0.01387	B	0.797903	0.06751	N	1.091020	1	0.08975	N	1.04	0.26193	L	2.82	0.10871	T	0.32	0.03955	N	0.026	0.02088	-0.9533	0.40398	T	0.016	0.06616	T	10	0.051080167	0.04936	T	0.002891	0.06104	T	0.044	0.11924	0.318	0.29581	0.043077524339	0.03247	0.044061209714319066	0.04350	0.182636527527	0.20529	0.440671503544	0.30668	T	0.018833	0.15112	T	-0.349114	0.04783	T	-0.739254	0.03922	T	0.0993457169052594	0.12285	T	0.60154	0.22486	T	0.048046563	0.08311	0.053824186	0.09140	0.048046563	0.08310	0.053824186	0.09139	-2.846	0.08615	T	.	.	0.110	0.21353	B	.;.	.;.	0.768406	0.11385	7.997	0.58603708594918114	0.06031	0.07460	0.13477	N	AEFBI	0.063228	0.12207	N	-1.06058826062295	0.07381	0.3427204	-1.01715573256436	0.09408	0.4679015	0.99988424441403	0.44867	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.72	2.02	0.25641	1.865000	0.39117	0.525000	0.19198	-0.120000	0.14102	0.006000	0.17386	0.000000	0.08366	0.227000	0.22653	0.0:0.2847:0.1586:0.5567	4.631	0.11886	441	0.80015	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	133.46	34	chr3	42637080	.	T	C	133.46	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.152e+00;DP=973;ExcessHet=0.1072;FS=321.100;InbreedingCoeff=-0.0588;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.97;ReadPosRankSum=-5.960e-01;SOR=8.885	GT:AD:DP:GQ:PL	0/1:49,21:70:84:84,0,982	19	0	2	0
chr3	42659204	42659204	C	G	exonic	ZBTB47	.	nonsynonymous SNV	ZBTB47:NM_145166:exon2:c.C849G:p.D283E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.053	N	1.000	D	0	N	-0.49	T	-0.847	T	0.040	T	0.024	-0.520	1.626	-6.61	-2.427	-1.185	0.077	0.118	.	.	0.00599042	0.0043	0.0326	0	0	0	0.0002	0	0	0.0002911	45	154602	rs339722	0.0009	0.0009	0.0010	0.0008	0.0311	0.0009	0.0008	0.0295	0.0288	0.0311	0.0019	0	0.0005	0	0.0013	4.711e-05	0.0019	0.0001	0.0077	0.0077	0.0079	0.0075	0.0262	0.0073	0.0072	0.0249	0.0244	0.0262	0	0.0046	0	0.0010	0	0	7.391e-05	0.0038	0.0002	1.0	0.00964	T	0.667	0.06365	T	.	.	.	.	.	.	0.052919	0.22854	N	0.434701	0.999997	0.58761	D	-0.28	0.03718	N	-0.49	0.70365	T	0.4	0.03463	N	0.068	0.04072	-0.8474	0.52148	T	0.040	0.17404	T	10	0.0023302436	0.00034	T	.	.	.	0.118	0.32913	0.225	0.14960	0.082315109003	0.07666	0.003311796078080994	0.00309	0.383668656916	0.39687	0.627155601978	0.56742	T	0.012382	0.10895	T	-0.294599	0.09179	T	-0.660947	0.08202	T	0.00432933672689897	0.00046	T	0.252875	0.03859	T	0.0238458	0.01159	0.021285662	0.00185	0.0238458	0.01159	0.021285662	0.00185	-1.221	0.01280	T	.	.	0.060	0.01011	B	.	.	-2.112783	0.00078	0.001	0.51032165693959308	0.04489	0.03176	0.08154	N	AEFDBHCI	0.024394	0.01506	N	-1.91254952012753	0.00324	0.01389453	-1.9845100870225	0.00330	0.01457393	0.999999613190071	0.74766	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	3.31	-6.61	0.01652	-1.252000	0.02990	-1.941000	0.04461	-0.822000	0.02949	0.061000	0.21800	0.207000	0.23614	0.043000	0.14563	0.2784:0.229:0.1745:0.3181	0.077	0.00025	365	0.84644	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1223.09	33	chr3	42659204	.	CGAGGAG	GGAGGAG,C	1223.09	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=3.84;DP=824;ExcessHet=0.1072;FS=3.353;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=15.10;ReadPosRankSum=0.869;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0,0:45:99:.:.:0,102,1530,102,1530,1530	19	0	1	0
chr3	42659205	42659210	GAGGAG	-	exonic	ZBTB47	.	nonframeshift deletion	ZBTB47:NM_145166:exon2:c.850_855del:p.E293_E294del,	.	.	336	1177	9	0	0	9	0.00380872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0030	0	0	0	0	0	0	0.0096	0.0003299	51	154602	rs757343130	0.0003	0.0004	0.0002	0.0005	0.0054	0.0003	0.0003	0.0050	0.0048	3.247e-05	8.644e-05	0	0	0	0.0013	3.486e-05	0.0004	0.0054	0.0002	0.0002	0.0001	0.0003	0.0038	0.0001	0.0001	0.0025	0.0020	0	0	0.0001	0	0.0002	0	0	7.391e-05	0.0005	0.0038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1223.09	33	chr3	42659204	.	CGAGGAG	GGAGGAG,C	1223.09	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=3.84;DP=824;ExcessHet=0.1072;FS=3.353;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=15.10;ReadPosRankSum=0.869;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0,0:45:99:.:.:0,102,1530,102,1530,1530	19	0	1	0
chr3	42690989	42690989	C	A	exonic	KLHL40	.	nonsynonymous SNV	KLHL40:NM_152393:exon5:c.C1738A:p.L580I,	Nemaline myopathy 8, autosomal recessive	.	418	1070	32	2	0	36	0.0165441	.	.	251129	not_specified|Nemaline_myopathy_8	MedGen:CN169374|MONDO:MONDO:0014138,MedGen:C3809209,OMIM:615348,Orphanet:171430	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.07	T	0.008	B	0.026	B	0.000	U	0.995	D	0.55	N	-1.48	T	-0.588	T	0.284	T	0.29	1.922	12.39	2.86	1.802	3.013	10.841	0.272	.	0.0004	0.00479233	0.0038	9.827e-05	0.0005	0.0001	0	0.0008	0.0047	0.0274	0.0032794	507	154602	rs149980411	0.0018	0.0018	0.0011	0.0025	0.0239	0.0017	0.0017	0.0230	0.0227	0	0.0001	0.0029	2.521e-05	0	0.0096	0.0003	0.0020	0.0239	0.0010	0.0010	0.0007	0.0013	0.0208	0.0009	0.0008	0.0175	0.0162	7.222e-05	0	0.0003	0.0014	0	0	0	0.0005	0.0014	0.0208	0.261	0.16520	T	0.215	0.26306	T	0.008	0.14655	B	0.026	0.20792	B	0.000085	0.51296	U	0.127465	0.99482	0.42431	D	1.815	0.47718	L	-1.48	0.81150	T	-0.28	0.11547	N	0.44	0.47857	-0.5877	0.65312	T	0.284	0.65635	T	10	0.009362847	0.00211	T	.	.	.	0.272	0.58758	.	.	0.738588929954	0.73624	0.2937168994251502	0.29284	0.102050073471	0.11557	0.662876725197	0.61821	T	0.205325	0.56435	T	-0.359828	0.04139	T	-0.271391	0.47679	T	0.0191029594303526	0.00618	T	0.848715	0.53056	T	0.2388014	0.46762	0.19560993	0.43247	0.29865474	0.52783	0.20800094	0.45082	-5.193	0.38871	T	.	.	0.152	0.33619	B	.	.	3.086661	0.41541	21.4	0.97551240314746535	0.34571	0.73558	0.35980	D	AEFDBI	0.271109	0.38703	N	-0.301754593104283	0.29081	1.609612	-0.158357806851571	0.33088	1.889097	0.992624007477833	0.32908	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.77	2.86	0.32427	3.036000	0.49457	5.888000	0.50725	0.537000	0.25018	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.9049:0.0:0.0951	10.841	0.45918	363	0.84772	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	774.98	34	chr3	42690989	.	C	A	774.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.590e-01;DP=762;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.36;ReadPosRankSum=0.871;SOR=0.841	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1185	20	0	1	0
chr3	42874438	42874438	T	C	exonic	CYP8B1	.	nonsynonymous SNV	CYP8B1:NM_004391:exon1:c.A1379G:p.H460R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.02	B	0.068	B	0.197	U	1.000	N	0.31	N	-0.16	T	-0.884	T	0.148	T	0.167	2.795	15.31	5.15	1.950	5.106	13.945	0.175	0.026705065501	.	.	8.241e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs759681635	2.257e-05	2.257e-05	2.859e-05	1.65e-05	2.788e-05	1.61e-05	1.416e-05	1.998e-05	1.74e-05	0	0	0	0	0	0	2.788e-05	3.311e-05	0	6.581e-06	6.569e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.169	0.22920	T	0.118	0.36233	T	0.02	0.18235	B	0.068	0.27651	B	0.196867	0.16701	U	0.518222	1	0.81001	D	0.895	0.22405	L	-0.16	0.65378	T	-3.35	0.66436	D	0.095	0.07535	-0.8841	0.49431	T	0.148	0.47362	T	10	0.27766472	0.45333	T	0.026705	0.49594	D	0.175	0.44197	0.555	0.67271	0.267299060538	0.26338	0.8353115516146772	0.83491	0.280962310309	0.30564	0.328825294971	0.14757	T	0.493171	0.81683	T	-0.212774	0.18989	T	-0.387046	0.34899	T	0.147718787193298	0.16921	T	0.554445	0.19192	T	0.21079896	0.43386	0.2953212	0.55564	0.21079896	0.43386	0.2953212	0.55563	-5.495	0.41821	T	.	.	0.121	0.24967	B	.	.	2.941138	0.39102	20.9	0.98961480721047101	0.49344	0.97829	0.77440	D	AEFDBI	0.883572	0.81260	D	-0.18021334742388	0.33958	1.93269	0.0174844776886158	0.40527	2.420067	0.999999995121134	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.15	5.15	0.70287	5.088000	0.64319	3.402000	0.38135	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.995000	0.73285	0.0:0.0:0.0:1.0	13.945	0.63589	657	0.62240	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1173.98	33	chr3	42874438	.	T	C	1173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.380e-01;DP=1287;ExcessHet=0.0000;FS=4.875;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=1.38;SOR=0.912	GT:AD:DP:GQ:PL	0/0:103,0:103:99:0,120,1800	20	0	1	0
chr3	43080822	43080822	C	T	exonic	POMGNT2	.	nonsynonymous SNV	POMGNT2:NM_032806:exon2:c.G610A:p.D204N,	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	559517	Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_a,_8	MONDO:MONDO:0013904,MedGen:C3553813,OMIM:614830,Orphanet:899	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.826	P	0.212	B	0.006	N	0.993	D	1.735	L	-1.18	T	-0.467	T	0.332	T	0.122	3.440	17.64	4.03	0.758	4.912	15.572	0.277	0.024379260285	.	.	3.312e-05	9.747e-05	0	0	0	3.017e-05	0	6.057e-05	2.59e-05	4	154602	rs761923554	3.079e-05	3.078e-05	2.723e-05	3.438e-05	0.0001	2.347e-05	2.095e-05	3.982e-05	2.373e-05	0.0001	0	0	2.519e-05	0	0	3.238e-05	3.312e-05	2.319e-05	1.315e-05	1.314e-05	2.57e-05	0	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.046	0.40573	D	0.069	0.43913	T	0.826	0.45919	P	0.212	0.37394	B	0.006458	0.32025	N	0.370048	0.992855	0.41762	D	2.62	0.76659	M	-1.18	0.78314	T	-2.03	0.46673	N	0.61	0.62696	-0.4669	0.69834	T	0.332	0.69968	T	10	0.5506404	0.64235	D	0.024379	0.47367	T	0.277	0.59375	.	.	0.78262879224	0.78061	0.8366566236348464	0.83625	0.708323350364	0.61548	0.623690247536	0.56250	T	0.316971	0.68846	T	-0.187367	0.22647	T	-0.325388	0.41980	T	0.534298598766327	0.33893	D	0.935306	0.75759	D	0.12998062	0.30342	0.1306088	0.31379	0.12998062	0.30342	0.1306088	0.31378	-8.553	0.64779	D	0.15550357097071624	0.18643	0.169	0.37350	B	.;.	.;.	3.727860	0.53306	23.3	0.99768173908323587	0.85666	0.96268	0.68313	D	AEFBI	0.540914	0.55728	D	0.232709096000669	0.52790	3.451035	0.288974001073548	0.54893	3.653291	0.533731845253646	0.21196	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.88	4.03	0.46115	4.989000	0.63600	2.664000	0.33900	0.599000	0.40250	1.000000	0.71638	0.992000	0.31684	0.998000	0.85391	0.0:0.7389:0.2611:0.0	15.572	0.76087	688	0.59122	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2320.98	38	chr3	43080822	.	C	T	2320.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.130e-01;DP=1045;ExcessHet=0.0000;FS=1.427;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.45;ReadPosRankSum=-1.680e-01;SOR=0.635	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr3	43081193	43081193	C	T	exonic	POMGNT2	.	nonsynonymous SNV	POMGNT2:NM_032806:exon2:c.G239A:p.R80H,	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, Autosomal recessive	.	0	1516	6	0	0	6	0.00197498	.	.	428186	not_specified|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_a,_8|not_provided	MedGen:CN169374|MONDO:MONDO:0013904,MedGen:C3553813,OMIM:614830,Orphanet:899|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.26	T	1.0	D	0.994	D	0.000	D	1.000	D	1.4	L	-1.13	T	-0.098	T	0.543	D	0.846	2.685	14.94	5.75	2.714	4.080	18.930	0.523	0.0683729784988	7.7e-05	0.00219649	0.0016	0	0.0010	0	0	0.0003	0.0011	0.0095	0.0013971	216	154602	rs146511234	0.0010	0.0010	0.0007	0.0014	0.0102	0.0010	0.0009	0.0096	0.0094	8.961e-05	0.0004	0.0009	0	0	0.0017	0.0004	0.0010	0.0102	0.0007	0.0007	0.0006	0.0008	0.0097	0.0006	0.0005	0.0075	0.0067	9.62e-05	0	0.0008	0.0012	0	0	0.0068	0.0005	0.0005	0.0097	0.245	0.17410	T	0.096	0.39340	T	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.245	0.31408	L	-1.13	0.77719	T	-0.83	0.22727	N	0.294	0.33250	-0.0975	0.80155	T	0.543	0.83199	D	10	0.013193697	0.00281	T	0.068373	0.70432	D	0.523	0.79765	.	.	0.810970745285	0.80919	0.6337372634800732	0.63307	0.324009235068	0.34560	0.549831688404	0.45834	T	0.022684	0.17449	T	-0.0681046	0.41629	T	0.137215	0.79364	D	0.0292454005402922	0.01874	T	0.908709	0.67605	D	0.17236485	0.37923	0.13219658	0.31728	0.17561443	0.38429	0.14412016	0.34226	-4.199	0.26737	T	0.08799753225949004	0.05229	0.091	0.13550	B	.;.	.;.	3.263657	0.44646	22.0	0.99584584847473789	0.73218	0.96685	0.70394	D	AEFDBI	0.723811	0.67331	D	0.615708035024157	0.74167	6.086976	0.640756827587087	0.77925	6.773946	0.999999999981156	0.74766	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.75	5.75	0.90390	4.149000	0.57864	4.841000	0.45285	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.930	0.92535	688	0.59122	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1570.98	38	chr3	43081193	.	C	T	1570.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=958;ExcessHet=0.0000;FS=0.671;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=-5.710e-01;SOR=0.601	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr3	43347913	43347913	C	T	exonic	SNRK	.	nonsynonymous SNV	SNRK:NM_001330750:exon5:c.C1036T:p.R346W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.167	B	0.011	B	0.000	D	1.000	D	1.7	L	0.75	T	-1.000	T	0.103	T	0.594	2.121	13.05	1.56	0.476	0.240	9.195	0.143	0.125805909852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	4.084e-06	0	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.91255	D	0.044	0.54934	D	0.167	0.28604	B	0.011	0.15521	B	0.000000	0.84330	D	0.000000	0.999898	0.50595	D	0.695	0.17993	N	0.75	0.50192	T	-2.05	0.50337	N	0.579	0.67218	-0.9998	0.29973	T	0.103	0.37894	T	10	0.243366	0.41549	T	0.125806	0.80737	D	0.143	0.38195	0.368	0.37687	0.36254010156	0.35860	0.3531533864915461	0.35229	1.54913524828	0.87873	0.900644302368	0.96512	D	0.092181	0.38950	T	-0.0631479	0.42413	T	-0.328484	0.41638	T	0.745683312416077	0.43046	D	0.952805	0.82030	D	0.20428273	0.42533	0.15704922	0.36741	0.20428273	0.42533	0.15704922	0.36740	-7.143	0.55071	T	.	.	0.563	0.83098	A	.;.;.;.	.;.;.;.	3.113416	0.42004	21.5	0.99631965338888984	0.76081	0.61112	0.31390	D	AEFBCI	0.544941	0.55966	D	-0.430598651376347	0.24403	1.317374	-0.39772133007602	0.25064	1.376203	0.999713583257747	0.42101	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.71	1.56	0.22423	0.253000	0.18066	1.692000	0.28077	-0.223000	0.07921	0.020000	0.19661	0.900000	0.27958	0.965000	0.52897	0.3939:0.494:0.1121:0.0	9.195	0.36385	509	0.75304	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2094.98	34	chr3	43347913	.	C	T	2094.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.99;DP=871;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=0.252;SOR=0.712	GT:AD:DP:GQ:PL	0/1:81,77:158:99:2109,0,1831	20	0	1	0
chr3	44243954	44243954	A	G	exonic	TOPAZ1	.	nonsynonymous SNV	TOPAZ1:NM_001145030:exon2:c.A1448G:p.Q483R,	.	.	426	1084	12	0	0	12	0.00550459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.912	N	1.000	N	0	N	3.14	T	-0.926	T	0.008	T	0.083	-1.884	0.008	-3.29	-0.504	-0.166	13.357	0.035	.	0.0028	0.00579073	0.0037	0.0089	0.0044	0	0	0.0022	0.0039	0.0051	0.0009961	154	154602	rs17076541	0.0013	0.0013	0.0012	0.0014	0.0298	0.0013	0.0012	0.0261	0.0247	0.0105	0.0023	0.0023	0	0	0.0298	0.0007	0.0029	0.0032	0.0035	0.0035	0.0033	0.0036	0.0088	0.0032	0.0031	0.0081	0.0078	0.0088	0	0.0025	0.0017	0	0	0.0170	0.0012	0.0043	0.0043	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.911959	0.07421	N	1.038110	1	0.08975	N	-0.205	0.04094	N	3.14	0.07920	T	1.27	0.00985	N	0.047	0.01911	-0.9259	0.44730	T	0.008	0.02638	T	10	0.0025490224	0.00039	T	.	.	.	0.035	0.08770	.	.	0.0482279557977	0.04254	0.21658741482236482	0.21574	.	.	0.221319049597	0.01388	T	8.32E-4	0.00412	T	-0.730454	0.00024	T	-0.814062	0.01576	T	0.0055632490905544	0.00061	T	0.524548	0.17205	T	0.039508287	0.05469	0.0520892	0.08514	0.039508287	0.05469	0.0520892	0.08514	-3.388	0.14896	T	.	.	0.067	0.02399	B	.	.	-0.212529	0.03027	0.463	0.32374395834308728	0.01872	0.01430	0.04814	N	AEFDBI	0.030791	0.03167	N	-1.35093760866715	0.03115	0.1386367	-1.27041351859735	0.04836	0.2290646	0.00976757613190134	0.11910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.55	-3.29	0.04706	-0.026000	0.12340	-0.162000	0.11313	-0.208000	0.08445	0.426000	0.26377	0.000000	0.08366	0.843000	0.39806	0.4055:0.0:0.5945:0.0	13.357	0.60075	345	0.85689	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4169.11	41	chr3	44243954	.	A	G	4169.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.320e+00;DP=1262;ExcessHet=0.1072;FS=2.671;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.80;ReadPosRankSum=-4.560e-01;SOR=0.629	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1620	19	0	2	0
chr3	44244331	44244331	A	T	exonic	TOPAZ1	.	nonsynonymous SNV	TOPAZ1:NM_001145030:exon2:c.A1825T:p.I609F,	.	.	.	.	.	.	.	.	.	.	.	2331405	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.144	B	0.071	B	0.016	N	0.999	N	0.345	N	2.58	T	-1.008	T	0.018	T	0.205	0.623	7.350	-1.31	-0.117	-0.102	7.139	0.067	0.0131499964077	.	0.000199681	9.334e-05	0.0005	0	0	0	0.0001	0	0	2.59e-05	4	154602	rs528472282	0.0002	0.0002	0.0002	0.0002	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0.0002	0	0	0	0.0004	0.0002	0.0002	0	0.0004	0.0004	0.0004	0.0003	0.0009	0.0003	0.0003	0.0006	0.0006	0.0009	0	0.0006	0	0	0	0	0.0002	0.0014	0	0.004	0.65419	D	0.01	0.65728	D	0.144	0.27697	B	0.071	0.27960	B	0.016222	0.28032	N	0.269369	0.999166	0.21555	N	0	0.06538	N	2.58	0.13434	T	-2.48	0.54059	N	0.174	0.18649	-1.0082	0.27479	T	0.018	0.07234	T	10	0.019707441	0.00443	T	0.01315	0.32325	T	0.067	0.19503	.	.	0.0297737177859	0.01360	0.1583443531446281	0.15755	.	.	0.283104032278	0.07929	T	0.009524	0.08670	T	-0.540198	0.00334	T	-0.6597	0.08287	T	0.0245109001092747	0.01210	T	0.719228	0.33234	T	0.23441327	0.46261	0.12708941	0.30598	0.23441327	0.46261	0.12708941	0.30598	-3.738	0.19880	T	.	.	0.108	0.20391	B	.	.	0.805207	0.11760	8.335	0.89429840140590144	0.18790	0.12494	0.17303	N	AEBI	0.100413	0.20191	N	-1.06923175015626	0.07216	0.3345224	-1.01497936905102	0.09455	0.4705128	0.137019809938488	0.17201	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.81	-1.31	0.08749	-0.068000	0.11519	0.410000	0.18100	-0.717000	0.03845	0.002000	0.15269	0.975000	0.29991	0.858000	0.40661	0.3778:0.1164:0.5058:0.0	7.139	0.24723	345	0.85689	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1656.98	41	chr3	44244331	.	A	T	1656.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.098e+00;DP=1064;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.41;ReadPosRankSum=1.42;SOR=0.711	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1620	20	0	1	0
chr3	44244764	44244764	C	T	exonic	TOPAZ1	.	nonsynonymous SNV	TOPAZ1:NM_001145030:exon2:c.C2258T:p.P753L,	.	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.021	B	0.013	B	.	.	1.000	N	0.695	N	2.96	T	-1.040	T	0.020	T	0.146	0.299	5.618	4.91	2.788	2.042	10.139	0.037	0.00687320239353	0.0002	.	0.0011	0	0	0	0	0.0026	0.0042	0	0.0001552	24	154602	rs201546531	0.0003	0.0003	0.0003	0.0003	0.0018	0.0003	0.0003	0.0010	0.0007	9.495e-05	2.801e-05	0.0104	0	0	0.0018	8.527e-05	0.0008	3.787e-05	0.0004	0.0004	0.0004	0.0004	0.0002	0.0003	0.0003	0.0001	7.897e-05	7.223e-05	0	0.0001	0.0130	0	0	0	0.0002	0.0005	0	0.387	0.10945	T	1.0	0.01155	T	0.021	0.18474	B	0.013	0.16460	B	.	.	.	.	0.999999	0.08975	N	1.795	0.47270	L	2.96	0.09542	T	-2.14	0.48523	N	0.209	0.23253	-1.0395	0.17465	T	0.020	0.08593	T	9	0.0041255057	0.00081	T	0.006873	0.18177	T	0.037	0.09474	.	.	0.29527378943	0.29149	0.3331639312480554	0.33229	.	.	0.280142426491	0.07511	T	0.032666	0.22587	T	-0.471672	0.00830	T	-0.641001	0.09596	T	0.016277901547158	0.00399	T	0.693531	0.30321	T	0.06319507	0.13281	0.090680405	0.21279	0.06319507	0.13281	0.090680405	0.21278	-4.412	0.29719	T	.	.	0.110	0.21239	B	.	.	3.128456	0.42264	21.5	0.97380553580819207	0.33671	0.29067	0.23723	N	AEFDBI	0.056885	0.10553	N	-0.40040127060251	0.25455	1.381935	-0.280357632934784	0.28744	1.605136	0.98037806150561	0.30129	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.89	4.91	0.63897	2.091000	0.41316	4.785000	0.44861	0.549000	0.26987	0.523000	0.27135	0.875000	0.27637	0.749000	0.35751	0.0:0.8796:0.0:0.1204	10.139	0.41902	345	0.85689	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1474.98	41	chr3	44244764	.	C	T	1474.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.855e+00;DP=1086;ExcessHet=0.0000;FS=1.346;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.39;ReadPosRankSum=0.414;SOR=0.735	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1620	20	0	1	0
chr3	44244892	44244892	A	G	exonic	TOPAZ1	.	nonsynonymous SNV	TOPAZ1:NM_001145030:exon2:c.A2386G:p.K796E,	.	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.763	P	0.242	B	.	.	1.000	N	0.695	N	2.68	T	-1.037	T	0.009	T	0.2	0.689	7.683	4.6	2.187	1.467	8.843	0.078	.	0.0083	0.0109824	0.0057	0.0281	0.0052	0	0	0.0024	0.0042	0.0051	0.0015524	240	154602	rs17076545	0.0018	0.0018	0.0018	0.0019	0.0302	0.0018	0.0018	0.0265	0.0251	0.0266	0.0034	0.0023	0	0	0.0302	0.0008	0.0042	0.0032	0.0085	0.0085	0.0087	0.0082	0.0259	0.0081	0.0079	0.0246	0.0241	0.0259	0	0.0043	0.0017	0	0	0.0204	0.0013	0.0099	0.0044	0.008	0.58626	D	0.0	0.92824	D	0.763	0.43659	P	0.242	0.38699	B	.	.	.	.	1	0.08975	N	1.795	0.47270	L	2.68	0.12371	T	-1.55	0.37566	N	0.255	0.28849	-1.0370	0.18233	T	0.009	0.03011	T	9	0.003294468	0.00057	T	.	.	.	0.078	0.22779	.	.	0.0716867268079	0.06686	0.2982062153470853	0.29733	.	.	0.336203336716	0.15869	T	0.011622	0.10346	T	-0.586762	0.00175	T	-0.593989	0.13322	T	0.0180266410121894	0.00526	T	0.639636	0.25265	T	0.20178348	0.42200	0.18954335	0.42307	0.20178348	0.42200	0.18954335	0.42306	-3.889	0.22137	T	.	.	0.083	0.09385	B	.	.	1.950725	0.24781	16.52	0.99123435050489805	0.53063	0.11872	0.16915	N	AEDBI	0.054050	0.09793	N	-0.191757305705605	0.33477	1.899678	-0.177528634749536	0.32366	1.840599	0.954957825442561	0.28161	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.74	4.6	0.56512	1.477000	0.35039	5.575000	0.48953	0.691000	0.84096	0.006000	0.17386	1.000000	0.68203	0.814000	0.38357	0.8578:0.0:0.1422:0.0	8.843	0.34314	345	0.85689	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4574.11	41	chr3	44244892	.	A	G	4574.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.41;DP=1188;ExcessHet=0.1072;FS=6.893;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=0.391;SOR=1.021	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1620	19	0	2	0
chr3	44421810	44421810	A	T	exonic	C3orf86	.	startloss	C3orf86:NM_001351480:exon2:c.T2A:p.M1?	.	.	1009	509	4	0	0	4	0.00391389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00898562	.	.	.	.	.	.	.	.	0.0036115	94	26028	rs112666989	0	8.111e-05	0	0	.	0	0	.	.	.	.	.	.	0	.	0	.	.	0.0052	0.0052	0.0050	0.0054	0.0144	0.0049	0.0048	0.0134	0.0130	0.0144	0	0.0032	0.0017	0	0	0.0204	0.0014	0.0071	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3466.11	33	chr3	44421810	.	A	T	3466.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.57;DP=938;ExcessHet=0.1072;FS=3.315;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.60;ReadPosRankSum=-2.820e-01;SOR=0.901	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1177	19	0	2	0
chr3	44499482	44499482	A	G	exonic	ZNF852	.	nonsynonymous SNV	ZNF852:NM_001287349:exon4:c.T1295C:p.I432T,	.	.	372	1149	1	0	0	1	0.000434972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	1.0	D	0.999	D	.	.	0.998	N	.	.	5.47	T	-0.929	T	0.010	T	0.093	1.064	9.346	3.59	1.591	1.970	7.029	0.116	0.00886632180788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.33753	T	0.163	0.31125	T	.	.	.	.	.	.	.	.	.	.	0.997922	0.22441	N	.	.	.	5.47	0.00949	T	-2.48	0.54059	N	0.37	0.41162	-0.9290	0.44284	T	0.010	0.03537	T	8	0.2349166	0.40542	T	0.008866	0.23390	T	0.116	0.32463	.	.	0.351180957027	0.34734	0.005035557774956674	0.00475	0.0278374496482	0.02851	0.603426933289	0.53388	T	0.079485	0.36140	T	-0.289987	0.09637	T	-0.654322	0.08654	T	0.815957188606262	0.47474	D	.	.	.	0.06578529	0.14094	0.09232431	0.21751	0.06578529	0.14094	0.09232431	0.21751	-3.356	0.14470	T	.	.	0.715	0.73558	P	.	.	1.967266	0.24989	16.60	0.99116623615554522	0.52880	0.01615	0.05224	N	AEFBHCI	0.156405	0.28175	N	0.05318487859266	0.44289	2.705666	-0.0991514343421911	0.35425	2.04941	0.020288928644898	0.13243	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.491896	0.07777	0	.	.	3.59	3.59	0.40253	3.527000	0.53272	4.483000	0.43541	-0.109000	0.15193	0.066000	0.21956	0.796000	0.26906	0.852000	0.40310	0.8882:0.0:0.1118:0.0	7.029	0.24136	323	0.86843	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2228.98	38	chr3	44499482	.	A	G	2228.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.453;DP=996;ExcessHet=0.0000;FS=6.078;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.86;ReadPosRankSum=0.169;SOR=1.160	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1620	20	0	1	0
chr3	44500208	44500208	T	C	exonic	ZNF852	.	nonsynonymous SNV	ZNF852:NM_001287349:exon4:c.A569G:p.N190S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.005	B	0.012	B	.	.	1.000	N	.	.	3.21	T	-0.941	T	0.012	T	0.04	0.941	8.838	-1.51	-0.014	-3.027	1.694	0.035	0.00212759741903	.	.	8.348e-06	0	0	0	0	1.522e-05	0	0	1.29e-05	2	154602	rs542684092	7.525e-06	7.525e-06	5.445e-06	9.625e-06	0.0002	4.04e-06	2.95e-06	3.85e-06	2.24e-06	0	0	0	0	0	0.0002	7.194e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.30800	T	0.097	0.39190	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.21	0.07125	T	-2.47	0.53898	N	0.11	0.09631	-0.9407	0.42505	T	0.012	0.04463	T	8	0.08588207	0.14543	T	0.002128	0.03962	T	0.035	0.08770	.	.	0.112648838833	0.10856	0.007488179012871869	0.00714	0.0239244096064	0.02427	0.332486927509	0.15310	T	0.061498	0.31670	T	-0.444649	0.01214	T	-0.812838	0.01602	T	0.0335013898511973	0.02554	T	.	.	.	0.07270703	0.16195	0.06651357	0.13637	0.07270703	0.16195	0.06651357	0.13636	-4.064	0.24757	T	.	.	0.080	0.07985	B	.;.	.;.	1.069593	0.14516	11.09	0.94163628293327406	0.24372	0.02528	0.07037	N	AEFGBCI	0.100135	0.20141	N	-0.88855109146911	0.11114	0.5346216	-0.909477415259426	0.11870	0.607371	0.0136381142826571	0.12491	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.27	-1.51	0.08207	-2.629000	0.00946	-0.635000	0.08105	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.987000	0.62547	0.1519:0.1042:0.3088:0.4352	1.694	0.02686	323	0.86843	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1775.98	38	chr3	44500208	.	T	C	1775.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.199;DP=928;ExcessHet=0.0000;FS=7.375;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.98;MQRankSum=-6.480e-01;QD=15.58;ReadPosRankSum=-4.110e-01;SOR=0.286	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1620	20	0	1	0
chr3	44570267	44570267	A	G	exonic	ZKSCAN7	.	nonsynonymous SNV	ZKSCAN7:NM_001288592:exon5:c.A704G:p.D235G	.	.	392	1096	31	3	0	37	0.0165994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.016	B	0.012	B	.	.	1.000	N	1.05	L	5.4	T	-0.974	T	0.017	T	0.205	1.655	11.49	1.76	0.187	-1.906	5.422	0.018	0.00254541482837	0.0012	0.00219649	0.0028	0.0003	0.0010	0	0.0021	0.0029	0.0033	0.0071	0.002639	408	154602	rs149725884	0.0022	0.0022	0.0020	0.0024	0.0114	0.0021	0.0021	0.0092	0.0084	0.0004	0.0018	0.0085	0	0.0029	0.0114	0.0017	0.0029	0.0070	0.0019	0.0019	0.0016	0.0022	0.0064	0.0017	0.0016	0.0046	0.0040	0.0003	0	0.0017	0.0081	0	0.0034	0.0204	0.0021	0.0028	0.0064	0.027	0.51248	D	0.087	0.44702	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	2.14	0.59869	M	5.4	0.07478	T	-4.08	0.75456	D	0.282	0.31925	-0.9744	0.36257	T	0.017	0.06902	T	9	0.0050780475	0.00110	T	0.002545	0.05093	T	0.018	0.03083	.	.	0.198526703765	0.19489	0.04919153974845222	0.04862	0.0997049403275	0.11260	0.230041772127	0.01971	T	0.183488	0.53585	T	-0.589298	0.00169	T	-0.615537	0.11539	T	0.0203927922993898	0.00739	T	.	.	.	0.18759097	0.40220	0.24652185	0.50163	0.18759097	0.40219	0.24652185	0.50162	-5.464	0.41530	T	.	.	0.107	0.28721	B	.;.;.	.;.;.	1.275397	0.16744	12.74	0.99518469052978487	0.69100	0.05613	0.11520	N	AEFGBI	0.086814	0.17603	N	-0.778841391921358	0.13862	0.6860513	-0.750185981825502	0.15717	0.8280359	0.0106314440060842	0.12057	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.616125	0.45549	0	.	.	4.22	1.76	0.23776	-1.488000	0.02413	0.142000	0.15184	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.595000	0.31264	0.566:0.3409:0.0931:0.0	5.422	0.15706	333	0.86326	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4802.11	33	chr3	44570267	.	A	G	4802.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.10;DP=1081;ExcessHet=0.1072;FS=0.521;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.97;MQRankSum=1.35;QD=11.95;ReadPosRankSum=0.876;SOR=0.662	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1291	19	0	2	0
chr3	44594483	44594483	G	A	exonic	ZNF660	.	nonsynonymous SNV	ZNF660:NM_173658:exon3:c.G290A:p.R97Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.001	B	.	.	0.970	D	0.125	N	1.23	T	-1.031	T	0.025	T	0.103	-0.982	0.288	-2.0	-0.211	-0.534	6.191	0.037	0.00360343388579	0.0012	0.000998403	0.0002	0.0022	0.0002	0	0	1.498e-05	0.0011	0.0001	0.0002199	34	154602	rs149108320	0.0001	0.0001	0.0001	0.0001	0.0023	0.0001	9.415e-05	0.0019	0.0017	0.0023	0.0002	0	2.519e-05	0	0.0003	4.137e-05	0.0003	0.0002	0.0007	0.0007	0.0007	0.0006	0.0022	0.0006	0.0005	0.0019	0.0017	0.0022	0	0.0003	0	0	0	0	2.941e-05	0.0009	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999986	0.18198	N	-0.125	0.04555	N	1.23	0.36872	T	1.84	0.00489	N	0.051	0.02272	-1.0314	0.20002	T	0.025	0.10910	T	8	0.0046096444	0.00096	T	0.003603	0.08247	T	0.037	0.09474	.	.	0.110078149338	0.10416	0.05019904240082232	0.04962	0.0566683192148	0.06263	0.299887597561	0.10384	T	0.014623	0.12415	T	-0.652782	0.00070	T	-0.71631	0.04976	T	0.00253289677240118	0.00026	T	.	.	.	0.027891852	0.02046	0.051016614	0.08125	0.027891852	0.02046	0.051016614	0.08124	-0.603	0.00650	T	.	.	0.077	0.06617	B	.	.	0.606621	0.09749	6.518	0.76346722087009578	0.11431	0.00996	0.03776	N	AEFBCI	0.072026	0.14360	N	-1.33551426926523	0.03277	0.1461284	-1.25783516063914	0.05016	0.2380205	0.00496458636851078	0.10779	0.553676	0.25195	0	0.588015	0.36545	0	0.575934	0.27490	0	0.620846	0.47308	0	.	.	4.46	-2.0	0.07024	-0.184000	0.09693	-2.594000	0.03569	-1.346000	0.01198	0.000000	0.06391	0.000000	0.08366	0.860000	0.40782	0.5913:0.0:0.2665:0.1422	6.191	0.19738	326	0.86709	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1517.98	35	chr3	44594483	.	G	A	1517.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.81;DP=811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.19;ReadPosRankSum=0.281;SOR=0.725	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1125	20	0	1	0
chr3	44734677	44734677	G	A	exonic	ZNF501	.	nonsynonymous SNV	ZNF501:NM_001258280:exon3:c.G256A:p.A86T	.	.	391	1126	5	0	0	5	0.00221533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.896	P	0.578	P	.	.	0.986	N	0.055	N	5.62	T	-0.776	T	0.003	T	0.308	3.128	16.45	2.18	1.717	0.253	5.257	0.078	0.0063210814903	.	.	0.0003	0	8.64e-05	0	0	8.993e-05	0	0.0016	0.0002135	33	154602	rs745487937	0.0001	0.0001	9.937e-05	0.0002	0.0017	0.0001	0.0001	0.0015	0.0014	0	2.236e-05	0	0	0	0.0016	3.957e-05	0.0001	0.0017	7.223e-05	7.218e-05	3.855e-05	0.0001	0.0012	3.968e-05	3.125e-05	0.0005	0.0004	0	0	0	0	0	0	0	7.352e-05	0	0.0012	0.108	0.29420	T	0.162	0.31225	T	0.896	0.49324	P	0.578	0.50118	P	.	.	.	.	0.985823	0.24675	N	-0.395	0.03011	N	5.62	0.00808	T	-2.41	0.52938	N	0.16	0.16725	-0.7758	0.56537	T	0.003	0.00929	T	9	0.023369193	0.00609	T	0.006321	0.16610	T	0.078	0.22779	.	.	0.141422826196	0.13715	0.009291137928946034	0.00892	0.0383201786277	0.04077	0.414821863174	0.27123	T	0.075378	0.35164	T	-0.534036	0.00364	T	-0.564509	0.15957	T	0.124086875290553	0.14824	T	.	.	.	0.13500898	0.31347	0.1833367	0.41317	0.13500898	0.31347	0.1833367	0.41317	-4.273	0.27797	T	.	.	0.154	0.34004	B	.;.	.;.	2.964728	0.39493	21.0	0.99881474803857029	0.95733	0.01331	0.04588	N	AEFDBHCI	0.095463	0.19287	N	-0.217809172301405	0.32403	1.827035	-0.240440792622668	0.30102	1.692034	0.00749894686611121	0.11479	0.554377	0.28877	0	0.588066	0.40923	0	0.463624	0.06942	0	0.491896	0.07777	0	.	.	3.07	2.18	0.26813	0.614000	0.24009	0.701000	0.20846	0.676000	0.76740	0.371000	0.25932	0.197000	0.23541	0.999000	0.91618	0.1213:0.0:0.6719:0.2067	5.257	0.14870	323	0.86843	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1368.98	41	chr3	44734677	.	G	A	1368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.107e+00;DP=884;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.11;ReadPosRankSum=0.650;SOR=0.702	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr3	44910158	44910158	C	T	exonic	TGM4	.	stopgain	TGM4:NM_003241:exon11:c.C1396T:p.R466X,	.	.	432	1085	5	0	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	.	.	.	.	0.012	U	1.000	A	.	.	.	.	.	.	.	.	.	2.374	13.90	-5.2	-1.696	-1.276	0.968	.	.	0.0003	0.000199681	0.0006	0	0.0003	0	0	0.0003	0	0.0033	0.0005304	82	154602	rs140488025	0.0003	0.0003	0.0002	0.0004	0.0034	0.0003	0.0003	0.0031	0.0029	2.987e-05	0.0002	3.826e-05	5.038e-05	1.872e-05	0.0023	0.0001	0.0005	0.0034	0.0003	0.0003	0.0002	0.0004	0.0035	0.0002	0.0002	0.0022	0.0018	0	0	0.0003	0	0	0	0.0034	0.0003	0	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	0.011705	0.01314	U	7.039270	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.016	0.00203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.204395	0.20173	T	-0.0694271	0.65667	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	5.349576	0.89743	31	0.84757834252972852	0.15480	0.00250	0.01379	N	AEFBI	0.015378	0.00290	N	-0.595360303893038	0.19084	0.9960876	-1.06098773345183	0.08479	0.4171154	0.998886083095601	0.37891	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	2.6	-5.2	0.02608	-1.114000	0.03404	-1.116000	0.06283	-0.339000	0.05715	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.2638:0.1465:0.1316:0.4581	0.968	0.01322	408	0.82256	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1703.98	34	chr3	44910158	.	C	T	1703.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=794;ExcessHet=0.0000;FS=5.845;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.56;ReadPosRankSum=-1.437e+00;SOR=1.234	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1170	20	0	1	0
chr3	45089073	45089073	T	C	exonic	CDCP1	.	nonsynonymous SNV	CDCP1:NM_022842:exon8:c.A2062G:p.I688V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.037	B	0.05	B	0.094	N	1.000	D	1.065	L	0.97	T	-1.100	T	0.066	T	0.217	0.624	7.354	3.32	1.004	0.579	7.268	0.029	0.00442728134996	.	0.000199681	5.816e-05	0	8.75e-05	0	0	0	0	0.0004	5.82e-05	9	154602	rs532733195	2.326e-05	2.326e-05	1.906e-05	2.75e-05	0.0003	1.674e-05	1.477e-05	0.0002	0.0002	0	2.236e-05	0	0	0	0	8.993e-07	4.967e-05	0.0003	6.58e-06	6.566e-06	1.287e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.754	0.03544	T	0.588	0.08273	T	0.037	0.20876	B	0.05	0.25278	B	0.093962	0.20197	N	0.561095	0.898654	0.27744	N	1.52	0.38360	L	0.97	0.42502	T	0.01	0.06868	N	0.251	0.28381	-1.0998	0.04116	T	0.066	0.27364	T	10	0.05529073	0.06020	T	0.004427	0.10844	T	0.029	0.06676	0.227	0.15257	0.409124616982	0.40530	0.3531458812777636	0.35228	0.280972310988	0.30572	0.412960290909	0.26867	T	0.076581	0.35452	T	-0.406764	0.02089	T	-0.525872	0.19702	T	0.0730817841677141	0.09077	T	0.680532	0.28920	T	0.025825538	0.01565	0.029282438	0.01249	0.025825538	0.01565	0.029282438	0.01249	-3.6	0.17857	T	.	.	0.103	0.18331	B	.	.	1.428944	0.18466	13.75	0.83548594214773642	0.14787	0.53653	0.29424	D	AEFDGBCI	0.103760	0.20780	N	-0.37568412347662	0.26338	1.436679	-0.20199198096669	0.31465	1.780946	0.999996737311292	0.74766	0.732398	0.92422	0	0.59043	0.45803	0	0.743671	0.96076	0	0.586402	0.36253	0	.	.	5.7	3.32	0.37134	0.596000	0.23744	-0.174000	0.11198	0.665000	0.62972	1.000000	0.71638	0.552000	0.25473	0.991000	0.66497	0.0:0.3193:0.0:0.6807	7.268	0.25412	567	0.70732	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1321.98	33	chr3	45089073	.	T	C	1321.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=843;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.33;ReadPosRankSum=0.471;SOR=0.655	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	20	0	1	0
chr3	45458824	45458824	G	A	exonic	LARS2	.	nonsynonymous SNV	LARS2:NM_001368263:exon7:c.G688A:p.G230R	Perrault syndrome 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.985	H	-1.46	T	0.868	D	0.805	D	0.93	5.208	33	5.41	2.711	9.420	19.557	0.878	0.289719449093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.104e-06	4.104e-06	2.723e-06	5.5e-06	0.0002	1.48e-06	9.7e-07	7.2e-07	2e-07	2.987e-05	0	0	0	0	0.0002	2.698e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.16	0.97626	H	-1.46	0.80983	T	-8.0	0.96495	D	0.955	0.96416	0.868	0.95251	D	0.805	0.93400	D	10	0.93740594	0.93069	D	0.289719	0.90521	D	0.878	0.96391	0.763	0.89133	0.910324508252	0.90943	.	.	0.911273094519	0.71074	0.782615482807	0.79322	T	0.575791	0.86028	D	0.454619	0.92687	D	0.415252	0.92597	D	0.999876737594604	0.99471	D	0.997089	0.98875	D	0.9753151	0.98733	0.9598792	0.98965	0.9753151	0.98733	0.9598792	0.98966	-11.266	0.81097	D	0.7885430232289009	0.86735	0.302	0.63514	B	.;.;.;.;.	.;.;.;.;.	5.605644	0.92493	32	0.99939593089325485	0.99734	0.99200	0.92708	D	AEFBI	0.903526	0.85271	D	0.997864454009863	0.95678	13.85426	0.879112415374974	0.94596	12.88621	0.999999999999997	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.41	5.41	0.78313	9.516000	0.97042	11.733000	0.95036	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.557	0.95343	640	0.64132	Aminoacyl-tRNA synthetase, class Ia;Aminoacyl-tRNA synthetase, class Ia;Aminoacyl-tRNA synthetase, class Ia;Aminoacyl-tRNA synthetase, class Ia;Aminoacyl-tRNA synthetase, class Ia	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1256.98	40	chr3	45458824	.	G	A	1256.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.448e+00;DP=863;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.96;ReadPosRankSum=1.22;SOR=0.716	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr3	45780053	45780053	C	T	exonic	SLC6A20	.	nonsynonymous SNV	SLC6A20:NM_001385683:exon3:c.G310A:p.V104I	Hyperglycinuria, Autosomal dominant;Iminoglycinuria, digenic, Autosomal recessive, Digenic recessive	.	2	1506	14	0	0	14	0.00462657	.	.	889029	Hyperglycinuria	Human_Phenotype_Ontology:HP:0002931,Human_Phenotype_Ontology:HP:0003108,MONDO:MONDO:0007677,MedGen:C0543541,OMIM:138500	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.2	T	0.012	B	0.026	B	0.001	N	0.842	N	1.11	L	-1.08	T	-0.745	T	0.284	T	0.258	2.837	15.45	2.77	0.454	1.190	10.523	0.121	0.015362353042	0.0012	0.000399361	0.0014	0.0002	0.0006	0	0	0.0022	0	0.0009	0.0007891	122	154602	rs139008024	0.0013	0.0013	0.0013	0.0013	0.0023	0.0013	0.0012	0.0014	0.0014	0.0003	0.0003	0.0010	2.538e-05	7.593e-05	0.0023	0.0015	0.0017	0.0008	0.0007	0.0007	0.0008	0.0006	0.0012	0.0006	0.0005	0.0010	0.0010	4.809e-05	0	0.0005	0.0012	0.0002	0	0	0.0012	0	0.0008	0.112	0.33254	T	0.171	0.33330	T	0.009	0.16265	B	0.015	0.20792	B	0.001416	0.39109	N	0.213831	0.841699	0.28622	N	1.39	0.34934	L	-1.08	0.77078	T	-0.76	0.22944	N	0.225	0.25253	-0.7446	0.58216	T	0.284	0.65577	T	10	0.027176023	0.00868	T	0.015362	0.36047	T	0.121	0.33580	.	.	0.813001838469	0.81124	0.37635393023808766	0.37549	0.201776064009	0.22587	0.268589198589	0.05957	T	0.021199	0.18811	T	-0.380556	0.03091	T	-0.344046	0.39885	T	0.0109754176623549	0.00158	T	0.845215	0.54691	T	0.113741964	0.26860	0.09941521	0.23736	0.113741964	0.26859	0.09941521	0.23735	-5.459	0.41980	T	.	.	0.092	0.19679	B	.;.;.;.	.;.;.;.	2.012610	0.25571	16.81	0.99603025257584255	0.74338	0.76868	0.37735	D	AEFDBI	0.219076	0.34400	N	-0.368754981991334	0.26589	1.452247	-0.239883327491225	0.30121	1.693288	0.992771257378965	0.32963	0.638212	0.43195	0	0.670034	0.63936	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.57	2.77	0.31614	0.915000	0.28260	0.918000	0.22682	-0.182000	0.10109	0.960000	0.33603	0.450000	0.24948	0.991000	0.66497	0.0:0.8406:0.0:0.1594	10.523	0.44119	423	0.81269	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1150.98	38	chr3	45780053	.	C	T	1150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.169e+00;DP=826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.51;ReadPosRankSum=-8.980e-01;SOR=0.773	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1057	20	0	1	0
chr3	45901638	45901638	A	G	exonic	CCR9	.	nonsynonymous SNV	CCR9:NM_006641:exon2:c.A814G:p.M272V	.	.	430	1078	14	0	0	14	0.00645161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.002	B	0.004	B	0.014	N	1.000	N	-1.18	N	-0.25	T	-1.016	T	0.036	T	0.039	-0.874	0.494	-4.77	-0.680	-0.434	2.988	0.053	.	0.0062	0.00778754	0.0035	0.0183	0.0030	0.0077	0.0002	0.0008	0.0077	0.0044	0.0032665	505	154602	rs12721497	0.0015	0.0015	0.0014	0.0016	0.0146	0.0014	0.0014	0.0136	0.0131	0.0146	0.0021	0.0024	0.0126	0.0002	0.0059	0.0004	0.0027	0.0045	0.0054	0.0054	0.0052	0.0055	0.0158	0.0051	0.0049	0.0148	0.0144	0.0158	0	0.0024	0.0029	0.0071	0	0.0068	0.0006	0.0076	0.0037	0.595	0.05918	T	0.312	0.19782	T	0.002	0.09854	B	0.004	0.10090	B	0.013612	0.01369	N	3.243540	1	0.08975	N	-0.885	0.01428	N	-0.26	0.67187	T	-0.67	0.19297	N	0.079	0.06322	-1.0158	0.25078	T	0.036	0.15553	T	10	0.002496183	0.00038	T	.	.	.	0.053	0.14996	.	.	0.475895305069	0.47218	0.23581599286968885	0.23496	0.313373988863	0.33629	0.25021725893	0.03790	T	0.055519	0.30028	T	-0.619972	0.00110	T	-0.649697	0.08975	T	0.000263014320720048	0.00002	T	0.491951	0.15143	T	0.12507184	0.29329	0.06791106	0.14112	0.12507184	0.29329	0.06791106	0.14112	-2.179	0.04103	T	.	.	0.066	0.02285	B	.;.;.	.;.;.	-0.754772	0.01199	0.059	0.4566804486985091	0.03601	0.05314	0.11164	N	AEFDBI	0.149561	0.27367	N	-1.63635492234935	0.01094	0.04747692	-1.59506241510175	0.01685	0.07654117	0.999972336386365	0.50053	0.634777	0.41761	0	0.643519	0.57511	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.96	-4.77	0.02985	-0.438000	0.06975	-1.597000	0.05092	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.931000	0.46843	0.303:0.213:0.3794:0.1047	2.988	0.05611	484	0.77165	.;GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3183.98	34	chr3	45901638	.	A	G	3183.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.856e+00;DP=993;ExcessHet=0.0000;FS=1.939;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.478;SOR=0.818	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1270	20	0	1	0
chr3	45966722	45966722	C	T	exonic	FYCO1	.	nonsynonymous SNV	FYCO1:NM_024513:exon8:c.G2612A:p.R871Q,	Cataract 18, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	889075	FYCO1-related_disorder|Cataract_18|Inborn_genetic_diseases	.|MONDO:MONDO:0012395,MedGen:C1864908,OMIM:610019,Orphanet:91492,Orphanet:98991,Orphanet:98992,Orphanet:98995|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.54	T	0.006	B	0.001	B	0.342	N	1.000	N	0.205	N	-1.02	T	-0.980	T	0.153	T	0.04	-1.367	0.026	-1.78	-0.158	-0.797	6.248	0.072	0.0198960380222	0.0017	0.00119808	0.0006	0.0063	0.0006	0	0	3.038e-05	0	0.0002	0.0005563	86	154602	rs113517878	0.0002	0.0002	0.0002	0.0002	0.0056	0.0002	0.0002	0.0050	0.0047	0.0056	0.0004	0	0	0	0.0009	4.227e-05	0.0005	4.638e-05	0.0018	0.0018	0.0019	0.0017	0.0062	0.0016	0.0016	0.0055	0.0053	0.0062	0	0.0008	0	0	0	0.0068	2.941e-05	0.0005	0.0002	0.588	0.05844	T	0.603	0.08448	T	0.006	0.13644	B	0.001	0.04355	B	0.341949	0.04193	N	1.365360	1	0.08975	N	-0.55	0.02420	N	-1.02	0.76300	T	-0.23	0.10656	N	0.033	0.01421	-0.9795	0.35117	T	0.153	0.48257	T	10	0.0045630634	0.00095	T	0.019896	0.42377	T	0.072	0.21020	.	.	0.451213972277	0.44741	0.05996950872633272	0.05936	0.182716278974	0.20537	0.197780609131	0.00395	T	0.001129	0.00635	T	-0.606105	0.00134	T	-0.641485	0.09560	T	0.00052064446957751	0.00004	T	0.542346	0.18433	T	0.016235992	0.00184	0.026035003	0.00672	0.017638182	0.00289	0.027536618	0.00913	-3.438	0.15573	T	0.11607289882147052	0.10455	0.064	0.01786	B	.;.	.;.	0.016536	0.04396	1.141	0.54843158779386214	0.05219	0.03468	0.08623	N	AEFDBCIJ	0.045147	0.07351	N	-1.34390582746202	0.03188	0.1420141	-1.35310906679687	0.03769	0.1765069	0.999962014066606	0.48965	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.94	-1.78	0.07527	-0.799000	0.04665	-2.227000	0.04029	-0.823000	0.02940	0.000000	0.06391	0.000000	0.08366	0.041000	0.14368	0.169:0.2178:0.0:0.6132	6.248	0.20042	390	0.83257	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1466.98	36	chr3	45966722	.	C	T	1466.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.58;DP=948;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.71;ReadPosRankSum=-2.590e-01;SOR=0.737	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	20	0	1	0
chr3	45967860	45967860	G	A	exonic	FYCO1	.	nonsynonymous SNV	FYCO1:NM_024513:exon8:c.C1474T:p.R492W,	Cataract 18, autosomal recessive, Autosomal recessive	.	0	1518	4	0	0	4	0.00131579	.	.	291589	FYCO1-related_disorder|not_provided|Cataract_18	.|MedGen:C3661900|MONDO:MONDO:0012395,MedGen:C1864908,OMIM:610019,Orphanet:91492,Orphanet:98991,Orphanet:98992,Orphanet:98995	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.989	D	0.431	B	0.334	N	1.000	N	1.1	L	2.02	T	-1.036	T	0.047	T	0.267	0.915	8.723	3.58	1.350	1.863	3.103	0.073	0.0186888804903	0.0026	0.00179712	0.0027	0.0002	0.0026	0.0001	0.0021	0.0039	0.0055	0.0007	0.0006274	97	154602	rs143704916	0.0025	0.0025	0.0026	0.0024	0.0029	0.0025	0.0024	0.0029	0.0028	0.0004	0.0029	0.0004	7.557e-05	0.0014	0.0016	0.0029	0.0026	0.0005	0.0026	0.0026	0.0027	0.0025	0.0077	0.0024	0.0023	0.0066	0.0062	0.0004	0	0.0077	0	0.0002	0.0008	0	0.0035	0.0028	0.0004	0.01	0.56456	D	0.011	0.64786	D	0.989	0.62824	D	0.431	0.45421	B	0.334439	0.04150	N	1.435910	1	0.08975	N	1.5	0.37844	L	2.02	0.21666	T	-2.58	0.55662	D	0.265	0.30004	-1.0365	0.18388	T	0.047	0.19998	T	10	0.004735142	0.00100	T	0.018689	0.40835	T	0.073	0.21317	.	.	0.29527378943	0.29149	0.18505202132207824	0.18423	0.383985489066	0.39712	0.178364992142	0.00080	T	0.041947	0.26023	T	-0.503996	0.00543	T	-0.496739	0.22686	T	0.0212506916887722	0.00827	T	0.787921	0.42712	T	0.0805889	0.18473	0.061113063	0.11748	0.06520861	0.13914	0.082107544	0.18712	-6.423	0.49688	T	0.3452860605667937	0.44281	0.090	0.12560	B	.;.	.;.	2.326607	0.29799	18.24	0.99770301325805177	0.85834	0.39927	0.26322	N	AEFDBCI	0.393957	0.47141	N	-0.24171235665711	0.31436	1.762635	-0.3576786001593	0.26272	1.450072	0.999989741928877	0.51787	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.55	3.58	0.40133	2.064000	0.41059	0.645000	0.20357	0.676000	0.76740	0.012000	0.18695	0.000000	0.08366	0.001000	0.02609	0.0943:0.1264:0.5164:0.2629	3.103	0.05950	390	0.83257	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1057.98	36	chr3	45967860	.	G	A	1057.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.47;DP=1135;ExcessHet=0.0000;FS=5.934;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.89;ReadPosRankSum=-7.520e-01;SOR=0.683	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	20	0	1	0
chr3	46265739	46265739	G	A	exonic	CCR3	.	nonsynonymous SNV	CCR3:NM_178329:exon2:c.G581A:p.S194N	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.001	B	0.012	B	0.405	N	1.000	N	0.165	N	1.15	T	-1.042	T	0.041	T	0.114	-1.010	0.246	-2.41	-0.118	-0.417	3.222	0.059	0.00603235670968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.608	0.05918	T	0.507	0.11115	T	0.001	0.07471	B	0.012	0.16012	B	0.405076	0.04558	N	1.385010	0.999998	0.08975	N	0.125	0.08623	N	1.15	0.38236	T	-0.31	0.12099	N	0.062	0.04547	-1.0423	0.16621	T	0.041	0.17657	T	10	0.24103743	0.41274	T	0.006032	0.15757	T	0.059	0.16972	0.39	0.41279	0.33110744837	0.32714	0.19931071565780115	0.19848	0.0564297188094	0.06233	0.253579586744	0.04154	T	0.054802	0.29828	T	-0.311346	0.07631	T	-0.685003	0.06682	T	0.0251462379289241	0.01291	T	0.286671	0.05128	T	0.04061085	0.05830	0.048394173	0.07179	0.04061085	0.05830	0.048394173	0.07179	-3.698	0.19289	T	.	.	0.120	0.27222	B	.;.;.;.	.;.;.;.	-0.155108	0.03328	0.582	0.35015567469461695	0.02174	0.06052	0.12022	N	AEFDBI	0.109823	0.21801	N	-1.17013152682792	0.05457	0.2488049	-1.17700673248806	0.06295	0.3025908	3.56815464653417E-5	0.03775	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.86	-2.41	0.06184	-0.640000	0.05537	-0.246000	0.10547	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.3688:0.3838:0.0976:0.1498	3.222	0.06320	450	0.79359	GPCR, rhodopsin-like, 7TM;.;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2470.98	33	chr3	46265739	.	G	A	2470.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.343e+00;DP=919;ExcessHet=0.0000;FS=1.119;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=-1.015e+00;SOR=0.635	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1343	20	0	1	0
chr3	46409095	46409095	A	G	exonic	CCRL2	.	nonsynonymous SNV	CCRL2:NM_001130910:exon2:c.A1052G:p.D351G	.	.	.	.	.	.	.	.	.	.	.	2398936	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.002	B	0.002	B	0.140	N	1.000	N	0.805	L	0.23	T	-1.051	T	0.114	T	0.061	1.625	11.39	-0.272	-0.197	-0.078	0.931	0.082	0.0101614318922	.	0.000399361	0.0002	0	8.649e-05	0.0016	0	6.036e-05	0.0011	0	0.0001294	20	154602	rs184378837	5.552e-05	5.541e-05	5.997e-05	5.102e-05	0.0011	4.552e-05	4.164e-05	0.0008	0.0007	0	2.246e-05	0	0.0011	0	0.0002	2.973e-05	6.635e-05	0	9.189e-05	9.186e-05	0.0001	8.054e-05	0.0015	5.522e-05	4.36e-05	0.0008	0.0006	0	0	6.538e-05	0	0.0015	0	0	7.35e-05	0	0	0.25	0.17761	T	0.248	0.24477	T	0.001	0.09854	B	0.001	0.06944	B	0.140026	0.02878	N	1.862430	1	0.08975	N	0	0.06538	N	0.23	0.59851	T	-2.16	0.48850	N	0.088	0.07125	-1.0509	0.14147	T	0.114	0.40513	T	10	0.0080550015	0.00183	T	0.010161	0.26368	T	0.082	0.23913	.	.	0.383760037723	0.37989	0.25135576522842995	0.25049	0.0357140560537	0.03767	0.222281813622	0.01446	T	0.090139	0.38521	T	-0.585622	0.00178	T	-0.64936	0.08999	T	0.289837121963501	0.24583	T	0.685431	0.29402	T	0.054218873	0.10372	0.057978764	0.10636	0.054218873	0.10372	0.057978764	0.10635	-2.682	0.07371	T	.	.	0.073	0.06571	B	.;.;.;.	.;.;.;.	0.123782	0.05206	1.718	0.92458904503659822	0.21885	0.11539	0.16700	N	AEFDBHCI	0.137682	0.25874	N	-1.18807593611134	0.05180	0.2355156	-1.21748303069996	0.05629	0.2687259	0.999999531457911	0.74766	0.51972	0.21558	0	0.588066	0.40923	0	0.615948	0.41167	0	0.678554	0.66404	0	.	.	4.95	-0.272	0.12280	0.031000	0.13598	0.177000	0.15587	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.412:0.1586:0.2756:0.1538	0.931	0.01250	423	0.81269	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1332.98	35	chr3	46409095	.	A	G	1332.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=915;ExcessHet=0.0000;FS=11.024;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=0.856;SOR=0.193	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	20	0	1	0
chr3	46438036	46438036	A	C	exonic	LTF	.	nonsynonymous SNV	LTF:NM_001199149:exon16:c.T1870G:p.C624G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.999	D	0.997	D	0.000	D	1.000	D	1.83	L	3.29	T	-1.192	T	0.047	T	0.936	3.967	20.3	4.95	2.173	7.545	11.582	0.438	0.0168416246501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.28772	T	0.012	0.63918	D	0.998	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.705	0.44259	L	3.29	0.06445	T	-10.07	0.98864	D	0.881	0.88137	-1.1921	0.00219	T	0.047	0.20077	T	10	0.8405925	0.83214	D	0.016842	0.38283	T	0.438	0.74235	0.726	0.86024	0.525664996154	0.52213	0.6559542799452452	0.65531	0.193022807787	0.21635	0.570993483067	0.48819	T	0.259248	0.63049	T	0.186819	0.72670	D	0.0305763	0.72315	D	0.998691141605377	0.94887	D	0.89491	0.63503	D	0.93723077	0.94966	0.90918726	0.95630	0.93723077	0.94966	0.90918726	0.95631	-3.865	0.25305	T	.	.	0.868	0.80734	P	.;.;.;.	.;.;.;.	4.720985	0.75937	26.4	0.98034887944037019	0.37743	0.98426	0.82655	D	AEFI	0.941267	0.94431	D	0.708283068730576	0.80175	7.23652	0.687582971387945	0.81434	7.526053	0.999998637730704	0.74766	0.516011	0.20929	0	0.59043	0.45803	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	4.95	4.95	0.64894	8.265000	0.89801	9.206000	0.79210	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	1.0:0.0:0.0:0.0	11.582	0.50153	423	0.81269	Transferrin-like domain|Transferrin-like domain|Transferrin-like domain;.;Transferrin-like domain|Transferrin-like domain|Transferrin-like domain;Transferrin-like domain|Transferrin-like domain|Transferrin-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1053.98	35	chr3	46438036	.	A	C	1053.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.08;DP=774;ExcessHet=0.0000;FS=0.764;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.65;ReadPosRankSum=0.124;SOR=0.559	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,999	20	0	1	0
chr3	46439418	46439418	C	T	exonic	LTF	.	nonsynonymous SNV	LTF:NM_001199149:exon15:c.G1654A:p.D552N	.	.	417	1104	1	0	0	1	0.000452694	.	.	3284606	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.26	T	0.369	B	0.159	B	0.000	N	0.999	D	1.84	L	2.88	T	-1.080	T	0.029	T	0.091	1.503	10.97	3.44	0.872	1.843	10.365	0.097	0.0122511592512	.	0.000199681	2.477e-05	0	0	0.0001	0	3.003e-05	0	0	3.88e-05	6	154602	rs139367879	4.583e-05	4.583e-05	4.628e-05	4.538e-05	0.0003	3.661e-05	3.347e-05	0.0002	0.0001	5.974e-05	0	0	0.0003	0	0.0002	4.317e-05	4.968e-05	1.159e-05	3.939e-05	3.937e-05	3.854e-05	4.028e-05	0.0002	1.714e-05	1.129e-05	2.847e-05	1.858e-05	0	0	0	0	0.0002	0	0	7.35e-05	0	0	0.238	0.18691	T	0.703	0.05663	T	0.369	0.34063	B	0.098	0.34693	B	0.000381	0.44960	N	0.225326	0.984441	0.45899	D	1.39	0.34934	L	2.88	0.10291	T	-3.23	0.65056	D	0.3	0.34120	-1.0799	0.07368	T	0.029	0.12541	T	10	0.12420565	0.23587	T	0.012251	0.30654	T	0.097	0.27909	.	.	0.555947139552	0.55254	0.7251976301812381	0.72463	0.0866349521193	0.09775	0.382712930441	0.22640	T	0.132977	0.46338	T	-0.426717	0.01552	T	-0.681598	0.06886	T	0.265597999095917	0.23558	T	0.90471	0.67274	D	0.37676847	0.59082	0.31935477	0.57897	0.37676847	0.59082	0.31935477	0.57896	-5.74	0.44048	T	.	.	0.118	0.27642	B	.;.;.;.	.;.;.;.	1.746098	0.22217	15.53	0.99411815944299875	0.63310	0.82753	0.41938	D	AEFDBI	0.151413	0.27589	N	-0.195862707913945	0.33306	1.888077	-0.161318073459902	0.32975	1.881447	0.99899201617685	0.38161	0.603402	0.35316	0	0.548873	0.16688	0	0.565031	0.19037	0	0.616125	0.45549	0	.	.	5.23	3.44	0.38486	1.416000	0.34366	0.809000	0.21733	0.530000	0.24713	0.704000	0.28664	0.237000	0.23824	0.031000	0.13245	0.0:0.8358:0.0:0.1642	10.365	0.43200	423	0.81269	Transferrin-like domain|Transferrin family, iron binding site|Transferrin-like domain|Transferrin-like domain;.;Transferrin-like domain|Transferrin family, iron binding site|Transferrin-like domain|Transferrin-like domain;Transferrin-like domain|Transferrin family, iron binding site|Transferrin-like domain|Transferrin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	965.98	37	chr3	46439418	.	C	T	965.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.87;DP=1554;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.50;ReadPosRankSum=-5.540e-01;SOR=0.743	GT:AD:DP:GQ:PL	0/0:115,0:115:99:0,120,1800	20	0	1	0
chr3	46446446	46446446	C	T	exonic	LTF	.	nonsynonymous SNV	LTF:NM_001199149:exon11:c.G1219A:p.V407M	.	.	427	1036	57	2	0	61	0.0285982	.	.	708874	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.08	T	0.995	D	0.891	P	0.000	N	1.000	N	1.15	L	3.21	T	-0.993	T	0.023	T	0.123	3.185	16.66	-5.27	-1.295	-1.828	1.597	0.083	.	0.0072	0.00419329	0.0084	0.0022	0.0059	0	0.0006	0.0084	0.0110	0.0217	0.007846	1213	154602	rs61739313	0.0078	0.0078	0.0072	0.0084	0.0253	0.0077	0.0076	0.0220	0.0210	0.0009	0.0051	0.0172	7.56e-05	0.0007	0.0253	0.0072	0.0085	0.0221	0.0050	0.0050	0.0053	0.0048	0.0174	0.0047	0.0046	0.0144	0.0133	0.0013	0	0.0039	0.0190	0.0002	0.0007	0.0306	0.0068	0.0104	0.0174	0.034	0.46129	D	0.129	0.36101	T	0.791	0.67487	P	0.34	0.63213	B	0.000015	0.00162	N	6.968180	1	0.08975	N	1.725	0.44537	L	3.21	0.07125	T	-0.78	0.22944	N	0.166	0.17691	-0.9927	0.31906	T	0.023	0.09604	T	10	0.0039860904	0.00077	T	.	.	.	0.083	0.24192	.	.	0.126345400529	0.12197	0.34706130118152995	0.34620	0.124778172504	0.14054	0.258332192898	0.04694	T	0.083964	0.37173	T	-0.653136	0.00069	T	-0.694704	0.06119	T	0.0155953161609467	0.00356	T	0.146985	0.01214	T	0.14808123	0.33823	0.10696175	0.25742	0.14808123	0.33823	0.10696175	0.25742	-4.658	0.33246	T	.	.	0.112	0.28116	B	.;.;.;.	.;.;.;.	0.365685	0.07381	4.005	0.98318891806542186	0.40222	0.00740	0.03091	N	AEFDGBHI	0.038641	0.05498	N	-0.703131132027061	0.15934	0.8074205	-0.893101611508219	0.12256	0.6294228	0.999592495529945	0.40745	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.41	-5.27	0.02551	-1.816000	0.01814	-2.291000	0.03942	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.970000	0.54328	0.2332:0.2655:0.3335:0.1678	1.597	0.02505	422	0.81333	Transferrin-like domain|Transferrin-like domain|Transferrin-like domain;.;Transferrin-like domain|Transferrin-like domain|Transferrin-like domain;Transferrin-like domain|Transferrin-like domain|Transferrin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1521.98	33	chr3	46446446	.	C	T	1521.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.638e+00;DP=805;ExcessHet=0.0000;FS=12.814;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=-8.560e-01;SOR=0.910	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1184	20	0	1	0
chr3	46539197	46539197	A	G	exonic	LRRC2	.	nonsynonymous SNV	LRRC2:NM_024512:exon4:c.T338C:p.L113P,	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.948	P	0.65	P	0.044	N	1.000	D	2.005	M	1.32	T	-0.854	T	0.144	T	0.777	3.971	20.3	4.9	1.981	6.558	12.798	0.380	0.0331979937429	.	.	9.064e-05	0	0	0	0	0	0	0.0007	7.12e-05	11	154602	rs779464695	5.954e-05	6.02e-05	3.132e-05	8.804e-05	0.0008	4.884e-05	4.563e-05	0.0006	0.0006	0	0	0	0	0	0.0003	1.349e-05	4.969e-05	0.0008	1.972e-05	1.97e-05	1.285e-05	2.691e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.001	0.78490	D	0.004	0.74150	D	0.948	0.53620	P	0.65	0.52463	P	0.044472	0.23635	N	0.398002	1	0.81001	D	2.63	0.76995	M	1.32	0.35219	T	-5.99	0.89401	D	0.697	0.78737	-0.8542	0.51675	T	0.144	0.46696	T	10	0.4443475	0.58300	T	0.033198	0.54812	D	0.380	0.69780	0.651	0.78858	0.612687967795	0.60956	0.8777672790471259	0.87743	1.05290775885	0.76214	0.460639059544	0.33397	T	0.051094	0.28783	T	-0.150584	0.28221	T	-0.0579024	0.66479	T	0.843385577201843	0.49606	D	0.756224	0.37950	T	0.75226873	0.81000	0.74859846	0.85140	0.75226873	0.81002	0.74859846	0.85141	-12.461	0.87024	D	.	.	0.808	0.78027	P	.;.	.;.	5.030071	0.83658	28.1	0.99894209276254342	0.96742	0.98108	0.79665	D	ALL	0.930742	0.91849	D	0.564332193753486	0.70959	5.57877	0.563184888829093	0.72321	5.79123	0.999999999999998	0.74766	0.615465	0.37627	0	0.166054	0.03914	2	0.658983	0.55881	0	0.192219	0.04218	2	.	.	4.9	4.9	0.63643	7.633000	0.82427	8.871000	0.78331	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	12.798	0.56950	411	0.82069	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1434.98	41	chr3	46539197	.	A	G	1434.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.540e-01;DP=924;ExcessHet=0.0000;FS=3.652;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.80;ReadPosRankSum=0.339;SOR=0.429	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr3	46675685	46675685	C	T	exonic	ALS2CL	.	nonsynonymous SNV	ALS2CL:NM_001190707:exon20:c.G2188A:p.G730S	.	.	418	1086	18	0	0	18	0.00821918	0.0096	0.088	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.991	D	0.784	P	0.003	N	0.998	D	1.87	L	1.54	T	-1.081	T	0.080	T	0.567	1.886	12.27	4.66	2.592	1.715	13.236	0.214	.	0.0075	0.00339457	0.0080	0.0013	0.0042	0	0.0126	0.0117	0.0122	0.0021	0.0078395	1212	154602	rs142971127	0.0092	0.0092	0.0094	0.0089	0.0105	0.0090	0.0090	0.0103	0.0103	0.0016	0.0042	0.0093	5.038e-05	0.0109	0.0055	0.0105	0.0077	0.0018	0.0070	0.0070	0.0073	0.0066	0.0110	0.0066	0.0065	0.0103	0.0101	0.0015	0.0088	0.0049	0.0086	0	0.0113	0.0136	0.0110	0.0043	0.0012	0.426	0.09658	T	0.025	0.56192	D	0.991	0.64070	D	0.784	0.57456	P	0.002863	0.35804	N	0.195229	0.996841	0.44993	D	2.24	0.63355	M	1.54	0.30133	T	-1.31	0.32791	N	0.362	0.40364	-1.0815	0.07060	T	0.080	0.31795	T	10	0.010800779	0.00239	T	.	.	.	0.214	0.50650	.	.	0.27132560031	0.26736	0.312853060060191	0.31198	0.234909903275	0.26024	0.399276971817	0.24967	T	0.031071	0.21874	T	-0.418219	0.01756	T	-0.364124	0.37575	T	0.0231025178742826	0.01036	T	0.657134	0.26688	T	0.056975026	0.11278	0.079300344	0.17840	0.056975026	0.11278	0.079300344	0.17840	-5.485	0.41728	T	.	.	0.088	0.11797	B	.;.	.;.	2.528597	0.32689	19.12	0.99072628453348799	0.51762	0.84379	0.43461	D	AEFDBI	0.536512	0.55470	D	0.235030063576579	0.52902	3.461751	0.192374759118953	0.49428	3.146122	0.999999977351035	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.658983	0.55881	0	0.699875	0.68795	0	.	.	4.66	4.66	0.57857	1.766000	0.38121	2.180000	0.31122	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.269000	0.23743	0.0:1.0:0.0:0.0	13.236	0.59397	317	0.87119	.;.	.	.	.	.	rs142971127	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	976.98	41	chr3	46675685	.	C	T	976.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.400e-02;DP=807;ExcessHet=0.0000;FS=0.890;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.38;ReadPosRankSum=1.66;SOR=0.542	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1287	20	0	1	0
chr3	46687004	46687004	G	T	exonic	ALS2CL	.	nonsynonymous SNV	ALS2CL:NM_001190707:exon5:c.C513A:p.S171R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.001	B	0.003	B	0.005	N	1.000	D	0.55	N	2.32	T	-1.019	T	0.021	T	0.406	0.852	8.445	1.2	0.539	-0.099	4.183	0.084	0.00210560055768	.	.	1.947e-05	0	0	0	0	3.391e-05	0	0	1.29e-05	2	154602	rs781336907	2.139e-05	2.531e-05	2.747e-05	1.526e-05	0.0031	1.533e-05	1.336e-05	0.0020	0.0017	0	0	0	0	2.187e-05	0.0031	3.605e-06	0.0001	0	1.316e-05	1.314e-05	2.571e-05	0	6.546e-05	2.19e-06	8.2e-07	.	.	0	0	6.546e-05	0	0	0	0	1.471e-05	0	0	0.147	0.24955	T	0.404	0.14818	T	0.001	0.07471	B	0.003	0.08700	B	0.005304	0.32910	N	0.264465	0.863438	0.28320	N	1.145	0.29067	L	2.32	0.16640	T	-0.55	0.16799	N	0.273	0.31365	-1.0188	0.24106	T	0.021	0.08639	T	10	0.14291042	0.27139	T	0.002106	0.03882	T	0.084	0.24469	0.377	0.39156	0.0920862733494	0.08535	0.1565877613015919	0.15579	0.129854084997	0.14643	0.331693798304	0.15190	T	0.033368	0.22885	T	-0.1941	0.21658	T	-0.516588	0.20640	T	0.0580311380326748	0.06855	T	0.644036	0.25562	T	0.057877537	0.11573	0.06285069	0.12361	0.057877537	0.11572	0.06285069	0.12361	-3.002	0.10202	T	.	.	0.141	0.31658	B	.;.	.;.	0.997249	0.13754	10.30	0.97034709862321622	0.32084	0.60931	0.31337	D	AEFDBI	0.179015	0.30630	N	-0.760988316449529	0.14336	0.7133154	-0.642062896578149	0.18417	0.9837625	0.999949446724112	0.47345	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	4.3	1.2	0.20181	-0.122000	0.10602	0.733000	0.21101	-0.242000	0.07441	0.949000	0.33028	0.999000	0.35428	0.804000	0.37906	0.0953:0.1565:0.588:0.1602	4.183	0.09848	310	0.87484	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1099.98	39	chr3	46687004	.	G	T	1099.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.520e-01;DP=784;ExcessHet=0.0000;FS=2.851;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=-7.120e-01;SOR=0.452	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1124	20	0	1	0
chr3	46709586	46709586	-	AAG	exonic	TMIE	.	nonframeshift insertion	TMIE:NM_001370524:exon4:c.210_211insAAG:p.K78_D79insK	Deafness, autosomal recessive 6, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	36052.73	62	chr3	46709583	.	TAAG	T,TAAGAAG	36052.73	.	AC=25,1;AF=0.595,0.024;AN=42;BaseQRankSum=-3.730e-01;DP=1535;ExcessHet=4.5793;FS=0.569;InbreedingCoeff=-0.2115;MLEAC=25,1;MLEAF=0.595,0.024;MQ=60.00;MQRankSum=0.00;QD=28.75;ReadPosRankSum=0.200;SOR=0.670	GT:AD:DP:GQ:PL	0/1:37,27,2:66:99:1009,0,1511,1038,1451,2564	2	7	11	0
chr3	46860813	46860813	G	T	exonic	MYL3	.	nonsynonymous SNV	MYL3:NM_000258:exon3:c.C170A:p.A57D,	Cardiomyopathy, hypertrophic, 8	YES	0	1519	2	0	1	3	0.000657895	.	.	52291	not_provided|Primary_familial_hypertrophic_cardiomyopathy|Long_QT_syndrome|Cardiovascular_phenotype|Hypertrophic_cardiomyopathy|Cardiomyopathy|Hypertrophic_cardiomyopathy_8	MedGen:C3661900|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:155|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012111,MedGen:C1837471,OMIM:608751	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	4.855	H	-2.07	D	1.017	D	0.874	D	0.817	4.806	27.2	4.36	2.415	7.826	14.794	0.887	0.334127719381	.	0.000199681	0.0001	0	8.64e-05	0.0003	0	7.498e-05	0	0.0003	0.0001035	16	154602	rs139794067	0.0001	0.0001	9.392e-05	0.0001	0.0016	0.0001	9.633e-05	0.0008	0.0006	2.987e-05	2.236e-05	0.0002	0.0002	1.873e-05	0.0016	6.475e-05	0.0003	0.0006	0.0001	0.0001	0.0002	0.0001	0.0005	8.665e-05	7.257e-05	0.0003	0.0002	2.408e-05	0	0.0005	0	0.0004	0	0	8.824e-05	0.0005	0.0004	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.62929	D	0.000000	1	0.81001	D	4.675	0.99424	H	-2.07	0.85943	D	-5.24	0.83967	D	0.948	0.95608	1.017	0.97484	D	0.874	0.95800	D	10	0.8601358	0.85229	D	0.334128	0.91834	D	0.887	0.96725	0.609	0.74182	0.911396127066	0.91050	0.9180211833213052	0.91778	1.37316763178	0.84586	0.740424573421	0.73036	T	0.832211	0.96005	D	0.089004	0.63078	D	0.239503	0.85124	D	0.836173832416534	0.49018	D	0.775222	0.40690	T	0.94658726	0.95918	0.8868588	0.94045	0.94786704	0.96049	0.9072095	0.95490	-14.337	0.94100	D	0.5562322403670272	0.62435	0.990	0.93538	P	.;.	.;.	5.252082	0.88183	29.5	0.99698610453873182	0.80453	0.98008	0.78831	D	AEFDBCI	0.978123	0.99754	D	1.0578397734241	0.97271	15.85376	0.901658909791623	0.95643	13.82304	0.999999999999284	0.74766	0.525926	0.21836	0	0.573078	0.20572	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	4.36	4.36	0.51643	8.154000	0.89585	11.836000	0.97677	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	14.794	0.69488	138	0.94518	EF-hand domain;EF-hand domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2797.98	34	chr3	46860813	.	G	T	2797.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.516e+00;DP=968;ExcessHet=0.0000;FS=1.029;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=0.821;SOR=0.778	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr3	46895855	46895855	G	A	exonic	PTH1R	.	nonsynonymous SNV	PTH1R:NM_001184744:exon4:c.G299A:p.G100D	Chondrodysplasia, Blomstrand type, Autosomal recessive;Eiken syndrome, Autosomal recessive;Failure of tooth eruption, primary, Autosomal dominant;Metaphyseal chondrodysplasia, Murk Jansen type, Autosomal dominant	.	2	1511	9	0	0	9	0.00296932	.	.	291687	Connective_tissue_disorder|Chondrodysplasia_Blomstrand_type|Metaphyseal_chondrodysplasia,_Jansen_type|not_specified|not_provided	MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0008970,MedGen:C1859148,OMIM:215045,Orphanet:50945|MONDO:MONDO:0007982,MedGen:C0265295,OMIM:156400,Orphanet:33067|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.67	T	0.004	B	0.006	B	.	.	0.999	D	0.69	N	0.77	T	-1.080	T	0.058	T	0.583	2.396	13.97	4.65	2.433	2.322	12.887	0.184	0.00950995395484	0.0032	0.00139776	0.0023	0.0004	0.0006	0	0.0016	0.0038	0.0034	0.0001	0.0022121	342	154602	rs41290646	0.0021	0.0021	0.0021	0.0021	0.0025	0.0020	0.0020	0.0024	0.0024	0.0003	0.0014	0.0003	0	0.0009	0.0023	0.0025	0.0018	0.0001	0.0022	0.0022	0.0023	0.0020	0.0037	0.0020	0.0019	0.0033	0.0032	0.0003	0	0.0032	0	0	0.0006	0	0.0037	0.0043	0	0.106	0.29688	T	0.144	0.35582	T	0.004	0.12183	B	0.006	0.12133	B	.	.	.	.	0.998954	0.45755	D	0.695	0.17993	N	0.75	0.50192	T	-2.3	0.51157	N	0.231	0.25989	-1.0804	0.07272	T	0.058	0.24354	T	9	0.008233696	0.00187	T	0.00951	0.24901	T	0.184	0.45763	.	.	0.706663200243	0.70410	0.638800735141887	0.63814	0.536434872759	0.50975	0.368400454521	0.20602	T	0.398897	0.75689	T	-0.400103	0.02311	T	-0.348652	0.39359	T	0.0130964946291164	0.00230	T	0.594141	0.21965	T	0.19282031	0.40967	0.30067676	0.56102	0.21036784	0.43331	0.32387984	0.58315	-4.535	0.31344	T	.	.	0.081	0.08033	B	.;.;.;.;.	.;.;.;.;.	2.433009	0.31299	18.70	0.98406969595001181	0.41126	0.76333	0.37429	D	AEFBCI	0.507579	0.53782	D	-0.29853382620254	0.29205	1.617534	-0.108034007426992	0.35065	2.024306	0.99999429640905	0.74766	0.580535	0.33130	0	0.615948	0.52940	0	0.576033	0.28219	0	0.691587	0.68394	0	.	.	4.65	4.65	0.57626	2.665000	0.46456	4.092000	0.41811	0.676000	0.76740	0.927000	0.32177	1.000000	0.68203	0.784000	0.37066	0.0:0.0:1.0:0.0	12.887	0.57440	112	0.95438	GPCR, family 2, extracellular hormone receptor domain;GPCR, family 2, extracellular hormone receptor domain;GPCR, family 2, extracellular hormone receptor domain;GPCR, family 2, extracellular hormone receptor domain;GPCR, family 2, extracellular hormone receptor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	1202.98	40	chr3	46895855	.	G	A	1202.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.780e-01;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=-1.179e+00;SOR=0.752	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr3	46898097	46898097	C	T	exonic	PTH1R	.	nonsynonymous SNV	PTH1R:NM_001184744:exon6:c.C448T:p.R150C	Chondrodysplasia, Blomstrand type, Autosomal recessive;Eiken syndrome, Autosomal recessive;Failure of tooth eruption, primary, Autosomal dominant;Metaphyseal chondrodysplasia, Murk Jansen type, Autosomal dominant	.	0	1517	5	0	0	5	0.00164528	.	.	265484	Metaphyseal_chondrodysplasia,_Jansen_type|Chondrodysplasia_Blomstrand_type|Connective_tissue_disorder|not_specified|not_provided	MONDO:MONDO:0007982,MedGen:C0265295,OMIM:156400,Orphanet:33067|MONDO:MONDO:0008970,MedGen:C1859148,OMIM:215045,Orphanet:50945|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.967	D	0.806	P	.	.	0.949	D	0.895	L	-0.06	T	-0.693	T	0.220	T	0.819	3.313	17.14	1.91	1.065	-0.043	8.194	0.414	0.0631962078726	0.0022	0.000399361	0.0019	0.0006	0.0002	0	0	0.0025	0.0011	0.0028	0.0018564	287	154602	rs121434601	0.0022	0.0022	0.0022	0.0022	0.0026	0.0022	0.0021	0.0025	0.0025	0.0002	0.0004	3.826e-05	0	0.0004	0.0007	0.0026	0.0013	0.0024	0.0016	0.0016	0.0017	0.0014	0.0029	0.0014	0.0013	0.0025	0.0024	0.0004	0	0.0008	0	0	0.0002	0	0.0029	0.0019	0.0019	0.148	0.35537	T	0.196	0.27943	T	0.967	0.56408	D	0.806	0.58437	P	.	.	.	.	0.949065	0.37636	D	1.445	0.36358	L	-0.06	0.63568	T	-1.68	0.40082	N	0.825	0.82761	-0.6930	0.60768	T	0.220	0.58345	T	9	0.015131831	0.00318	T	0.063196	0.68891	D	0.414	0.72479	.	.	0.854324078055	0.85292	0.7149756529487792	0.71440	1.1876170878	0.80188	0.360968738794	0.19527	T	0.478018	0.80802	T	-0.215914	0.18553	T	-0.0865998	0.64417	T	0.0278537265623953	0.01666	T	0.936406	0.76145	D	0.29750484	0.52679	0.27216354	0.53124	0.38859153	0.59932	0.23512307	0.48746	-8.295	0.63062	D	0.15742198140696453	0.19008	0.308	0.53579	B	.;.;.;.;.	.;.;.;.;.	4.283450	0.65264	24.8	0.99803034954086223	0.88728	0.24173	0.22310	N	AEFDBHCI	0.579242	0.58012	D	-0.0200275438860086	0.40949	2.440791	-0.080466867643009	0.36199	2.103562	0.999885050981036	0.44867	0.764865	0.99124	0	0.615948	0.52940	0	0.731555	0.93304	0	0.567892	0.33627	0	.	.	5.05	1.91	0.24841	-0.072000	0.11446	3.267000	0.37132	0.599000	0.40250	0.000000	0.06391	1.000000	0.68203	0.956000	0.50813	0.3105:0.5516:0.1379:0.0	8.194	0.30546	110	0.95498	GPCR, family 2, extracellular hormone receptor domain|GPCR, family 2, extracellular hormone receptor domain|GPCR, family 2, extracellular hormone receptor domain;GPCR, family 2, extracellular hormone receptor domain|GPCR, family 2, extracellular hormone receptor domain|GPCR, family 2, extracellular hormone receptor domain;GPCR, family 2, extracellular hormone receptor domain|GPCR, family 2, extracellular hormone receptor domain|GPCR, family 2, extracellular hormone receptor domain;GPCR, family 2, extracellular hormone receptor domain|GPCR, family 2, extracellular hormone receptor domain|GPCR, family 2, extracellular hormone receptor domain;GPCR, family 2, extracellular hormone receptor domain|GPCR, family 2, extracellular hormone receptor domain|GPCR, family 2, extracellular hormone receptor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.02381	4297.98	34	chr3	46898097	.	C	T	4297.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.05;DP=1088;ExcessHet=0.0000;FS=5.348;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=1.50;SOR=0.803	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr3	46989375	46989375	G	A	exonic	NBEAL2	.	nonsynonymous SNV	NBEAL2:NM_001365116:exon5:c.G446A:p.R149H	Gray platelet syndrome, Autosomal recessive	.	0	1511	10	1	0	12	0.00395517	.	.	734089	not_provided|Gray_platelet_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0007686,MedGen:C0272302,OMIM:139090,Orphanet:721|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.22	T	0.001	B	0.001	B	.	.	1.000	D	-0.345	N	0.5	T	-1.099	T	0.052	T	0.096	1.143	9.658	-2.16	-0.163	1.349	3.659	0.036	0.0145040141877	0.0006	0.000998403	0.0023	0.0003	0.0013	0	0	0.0027	0.0033	0.0034	0.0007956	123	154602	rs199797249	0.0007	0.0007	0.0006	0.0009	0.0037	0.0007	0.0007	0.0034	0.0033	6.13e-05	0.0004	0.0141	7.966e-05	0	0.0016	0.0002	0.0014	0.0037	0.0007	0.0007	0.0006	0.0008	0.0025	0.0006	0.0005	0.0014	0.0011	0.0001	0	0.0007	0.0144	0	0	0	0.0003	0.0024	0.0025	0.535	0.06913	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	-1.355	0.00654	N	0.5	0.55608	T	0.01	0.06868	N	0.126	0.11912	-1.0993	0.04177	T	0.052	0.22192	T	9	0.0032401085	0.00055	T	0.014504	0.34657	T	0.036	0.09122	.	.	0.102598925029	0.09809	0.11799494674644576	0.11726	0.236531920032	0.26193	0.215354144573	0.01059	T	0.021182	0.16539	T	-0.565021	0.00237	T	-0.586811	0.13943	T	0.0177228832903244	0.00502	T	0.783622	0.42065	T	0.0276266	0.01981	0.03702246	0.03269	0.03915508	0.05352	0.03297379	0.02117	-4.292	0.28065	T	.	.	0.056	0.00436	B	.	.	3.037572	0.40708	21.2	0.78254874175789135	0.12222	0.56748	0.30197	D	AEFBCI	0.072370	0.14440	N	-0.853301204120781	0.11969	0.5806503	-0.717842699980631	0.16516	0.8741012	0.999626527138235	0.41093	0.722319	0.85440	0	0.696144	0.67643	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	3.92	-2.16	0.06684	1.354000	0.33660	2.706000	0.34198	-0.116000	0.14526	0.999000	0.42656	0.955000	0.29136	0.992000	0.67800	0.2782:0.0:0.3325:0.3893	3.659	0.07770	29	0.98227	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1077.98	38	chr3	46989375	.	G	A	1077.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.102;DP=812;ExcessHet=0.0000;FS=3.855;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=1.74;SOR=1.129	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,991	20	0	1	0
chr3	46992544	46992544	G	A	exonic	NBEAL2	.	nonsynonymous SNV	NBEAL2:NM_015175:exon10:c.G1102A:p.D368N,	Gray platelet syndrome, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	889154	Gray_platelet_syndrome	MONDO:MONDO:0007686,MedGen:C0272302,OMIM:139090,Orphanet:721	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.19	T	0.049	B	0.004	B	.	.	1.000	D	1.04	L	0.32	T	-1.034	T	0.134	T	0.036	1.482	10.90	3.6	0.276	4.384	12.796	0.074	0.0137975516883	.	0.000199681	0.0001	0	0	0.0008	0	9.868e-05	0	0	8.41e-05	13	154602	rs528681375	5.464e-05	5.678e-05	4.944e-05	5.991e-05	0.0006	4.459e-05	4.127e-05	0.0004	0.0003	0	2.335e-05	3.887e-05	0.0006	0	0.0002	4.345e-05	5.016e-05	2.403e-05	6.567e-05	7.218e-05	7.71e-05	5.371e-05	0.0006	3.515e-05	2.615e-05	0.0002	8.391e-05	2.405e-05	0	0	0	0.0006	0	0	8.823e-05	0	0	0.148	0.24857	T	.	.	.	0.049	0.22227	B	0.004	0.10090	B	.	.	.	.	1	0.81001	D	1.15	0.29295	L	0.32	0.58468	T	-0.8	0.22078	N	0.3	0.33904	-1.0341	0.19141	T	0.134	0.44817	T	9	0.03793022	0.02177	T	0.013798	0.33474	T	0.074	0.21613	.	.	0.176862962021	0.17281	0.10978074502563381	0.10907	0.186497304341	0.20959	0.475858330727	0.35488	T	0.020154	0.15918	T	-0.488667	0.00661	T	-0.560218	0.16355	T	0.0202177542157609	0.00721	T	0.714629	0.32694	T	0.07238068	0.16097	0.08391725	0.19266	0.07238068	0.16097	0.08391725	0.19266	-4.688	0.33258	T	.	.	0.089	0.12323	B	.	.	3.346388	0.46131	22.2	0.93497196533824334	0.23302	0.86192	0.45426	D	AEFBCI	0.344743	0.44013	N	-0.507321752872032	0.21843	1.162146	-0.33905730757233	0.26849	1.485772	0.999971167611489	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.636168	0.56350	0	.	.	5.41	3.6	0.40374	4.490000	0.60041	8.442000	0.77197	-0.115000	0.14600	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.1524:0.0:0.8476:0.0	12.796	0.56938	28	0.98252	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1076.98	44	chr3	46992544	.	G	A	1076.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.154;DP=867;ExcessHet=0.0000;FS=0.936;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.96;ReadPosRankSum=0.152;SOR=0.510	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1458	20	0	1	0
chr3	47003251	47003251	C	G	exonic	NBEAL2	.	nonsynonymous SNV	NBEAL2:NM_001365116:exon34:c.C5560G:p.P1854A	Gray platelet syndrome, Autosomal recessive	.	0	1508	13	1	0	15	0.00494886	.	.	889194	Gray_platelet_syndrome|not_specified	MONDO:MONDO:0007686,MedGen:C0272302,OMIM:139090,Orphanet:721|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.71	T	0.0	B	0.001	B	0.013	N	1.000	N	1.245	L	1.07	T	-1.023	T	0.093	T	0.169	1.218	9.942	2.26	0.647	0.536	7.037	0.032	.	.	0.000599042	0.0016	0	0.0003	0	0	0.0003	0.0011	0.0102	0.0012872	199	154602	rs200641534	0.0008	0.0008	0.0005	0.0011	0.0099	0.0007	0.0007	0.0093	0.0091	2.987e-05	0.0004	0.0007	0.0001	0	0.0038	0.0002	0.0009	0.0099	0.0005	0.0005	0.0003	0.0008	0.0110	0.0004	0.0004	0.0086	0.0078	4.814e-05	0	0.0005	0.0006	0.0002	0	0.0034	0.0002	0.0009	0.0110	0.274	0.15823	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	0.012993	0.28987	N	0.316013	1	0.08975	N	1.78	0.46185	L	0.49	0.55775	T	-1.51	0.36787	N	0.255	0.28849	-1.0230	0.22736	T	0.093	0.35498	T	10	0.005277723	0.00115	T	.	.	.	0.064	0.18567	.	.	0.228066490088	0.22430	0.3114813273173009	0.31061	0.184002297361	0.20694	0.375576615334	0.21628	T	0.026963	0.19847	T	-0.519116	0.00445	T	-0.511911	0.21119	T	0.0108572421454539	0.00155	T	0.729627	0.34527	T	0.029273508	0.02396	0.03950321	0.04059	0.029273508	0.02395	0.03950321	0.04059	-3.967	0.23308	T	.	.	0.062	0.01367	B	.	.	1.519748	0.19514	14.30	0.91058482078549119	0.20310	0.28716	0.23630	N	AEFDGBCI	0.063515	0.12278	N	-0.394554004495757	0.25662	1.39473	-0.488080824988276	0.22480	1.221263	0.999990728773109	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.16	2.26	0.27418	0.543000	0.22945	0.233000	0.16214	0.599000	0.40250	0.002000	0.15269	0.001000	0.17328	0.827000	0.38976	0.1974:0.6117:0.1908:0.0	7.037	0.24177	25	0.98345	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1473.98	38	chr3	47003251	.	C	G	1473.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.81;DP=894;ExcessHet=0.0000;FS=9.180;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.45;ReadPosRankSum=0.066;SOR=1.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485	20	0	1	0
chr3	47004508	47004508	G	A	exonic	NBEAL2	.	nonsynonymous SNV	NBEAL2:NM_001365116:exon37:c.G6110A:p.R2037H	Gray platelet syndrome, Autosomal recessive	.	0	1517	5	0	0	5	0.00164528	.	.	720479	not_provided|NBEAL2-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.988	D	0.953	D	0.000	D	1.000	D	2.58	M	-1.12	T	-0.300	T	0.373	T	0.668	4.328	22.7	3.84	1.223	7.471	11.733	0.741	0.0574986854791	0.0002	0.000798722	0.0007	0.0001	8.666e-05	0	0	3.01e-05	0	0.0047	0.0005563	86	154602	rs200204458	0.0003	0.0003	0.0002	0.0005	0.0045	0.0003	0.0003	0.0041	0.0039	5.974e-05	2.237e-05	0	0	0	0.0005	8.095e-05	0.0003	0.0045	0.0003	0.0003	0.0002	0.0003	0.0064	0.0002	0.0002	0.0046	0.0040	4.815e-05	0	0	0	0	0	0	8.821e-05	0	0.0064	0.0	0.91255	D	.	.	.	0.988	0.62325	D	0.953	0.69275	D	0.000000	0.84330	D	0.000000	0.999985	0.58761	D	2.94	0.84723	M	-1.12	0.77593	T	-4.67	0.79571	D	0.514	0.54496	-0.2998	0.74991	T	0.373	0.73213	T	10	0.012597293	0.00270	T	0.057499	0.66989	D	0.741	0.91026	.	.	0.795362046961	0.79346	0.80506708242705	0.80460	0.889378951497	0.70148	0.745577216148	0.73793	T	0.563303	0.85418	D	-0.106266	0.35386	T	0.0740598	0.75182	D	0.22823044318075	0.21867	T	0.974503	0.90930	D	0.759966	0.81451	0.68806493	0.81651	0.759966	0.81453	0.68806493	0.81652	-10.444	0.76525	D	0.23495724238624666	0.31812	0.174	0.38080	B	.	.	4.876017	0.79927	27.2	0.99938683635474179	0.99698	0.98417	0.82562	D	AEFDGBI	0.841857	0.75902	D	0.390300205235279	0.60895	4.283766	0.396694216787195	0.61362	4.335098	0.999999999842478	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.72	3.84	0.43422	7.776000	0.84252	5.882000	0.50656	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0867:0.0:0.9133:0.0	11.733	0.51015	25	0.98345	BEACH domain|BEACH domain|BEACH domain|BEACH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2451.98	39	chr3	47004508	.	G	A	2451.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.91;DP=999;ExcessHet=0.0000;FS=3.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.72;ReadPosRankSum=-1.235e+00;SOR=1.012	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr3	47067070	47067070	T	C	exonic	SETD2	.	nonsynonymous SNV	SETD2:NM_001349370:exon12:c.A5977G:p.T1993A	Luscan-Lumish syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	0.0005	0.058	452673	Luscan-Lumish_syndrome	MONDO:MONDO:0014791,MedGen:C4085873,OMIM:616831,Orphanet:597738	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.938	N	0.924	N	-0.895	N	-2.3	D	-0.853	T	0.268	T	0.046	0.983	9.015	-1.44	-0.132	1.252	11.449	0.243	0.0424187494244	0.0007	0.000998403	0.0003	0.0029	0.0002	0	0	1.499e-05	0	0	0.0002717	42	154602	rs113798770	9.212e-05	9.235e-05	0.0001	7.458e-05	0.0034	7.93e-05	7.402e-05	0.0029	0.0027	0.0034	0.0002	0	0	0	0	9.043e-07	0.0002	0	0.0010	0.0010	0.0010	0.0009	0.0034	0.0009	0.0008	0.0030	0.0028	0.0034	0	0.0003	0	0	0	0	1.47e-05	0.0014	0	0.325	0.13349	T	0.782	0.04302	T	0.0	0.02946	B	0.0	0.01387	B	0.938463	0.08370	N	0.965558	0.92413	0.27222	N	0.14	0.08730	N	-2.3	0.87671	D	-0.3	0.11913	N	0.037	0.01135	-0.8528	0.51774	T	0.268	0.63908	T	9	0.0043290854	0.00087	T	0.042419	0.60452	D	0.243	0.54921	.	.	0.400930682813	0.39710	0.07873780371775516	0.07808	0.541343025859	0.51294	0.359603345394	0.19328	T	0.058151	0.30764	T	-0.45723	0.01023	T	-0.431662	0.29747	T	0.00753227897833161	0.00087	T	0.159884	0.01439	T	0.025431326	0.01480	0.026515406	0.00745	0.016959136	0.00235	0.025488526	0.00595	-3.465	0.15945	T	.	.	0.060	0.00919	B	.	.	1.641892	0.20951	14.99	0.82910824058319998	0.14440	0.13588	0.17941	N	AEFBI	0.061504	0.11764	N	-0.681779680916686	0.16541	0.8436792	-0.522377132657002	0.21546	1.166094	0.988608045116017	0.31570	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.5	-1.44	0.08391	1.457000	0.34822	0.264000	0.16579	0.665000	0.62972	1.000000	0.71638	0.977000	0.30130	0.998000	0.85391	0.0:0.7537:0.0:0.2463	11.449	0.49385	15	0.98792	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1033.98	33	chr3	47067070	.	T	C	1033.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.020;DP=776;ExcessHet=0.0000;FS=1.676;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=0.062;SOR=0.762	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1141	20	0	1	0
chr3	47121539	47121539	T	C	exonic	SETD2	.	nonsynonymous SNV	SETD2:NM_001349370:exon2:c.A2965G:p.T989A	Luscan-Lumish syndrome, Autosomal dominant	.	419	1093	9	1	0	11	0.00500683	.	.	138954	not_provided|Luscan-Lumish_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0014791,MedGen:C4085873,OMIM:616831,Orphanet:597738|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.13	T	0.01	B	0.002	B	0.006	N	0.991	N	0	N	1.62	T	-0.818	T	0.310	T	0.232	1.346	10.42	3.87	2.115	0.833	3.094	0.090	0.0128914804187	0.0007	0.000998403	0.0010	9.654e-05	0.0002	0	0	0.0011	0.0011	0.0028	0.0008926	138	154602	rs145759179	0.0007	0.0007	0.0006	0.0008	0.0037	0.0007	0.0007	0.0033	0.0032	2.987e-05	0.0004	0.0135	0	0	0.0017	0.0002	0.0014	0.0037	0.0007	0.0007	0.0006	0.0008	0.0025	0.0006	0.0005	0.0014	0.0011	9.619e-05	0	0.0007	0.0141	0	0	0	0.0003	0.0019	0.0025	0.156	0.24090	T	0.363	0.16815	T	0.01	0.15535	B	0.002	0.06944	B	0.006156	0.32237	N	0.218075	0.990508	0.24162	N	0.145	0.08828	N	-2.29	0.87591	D	-1.1	0.46146	N	0.077	0.05162	-0.8181	0.54053	T	0.310	0.68012	T	10	0.004057318	0.00079	T	0.012891	0.31852	T	0.090	0.26093	.	.	0.514870668196	0.51130	0.18933225162775694	0.18851	0.250755808032	0.27649	0.328769266605	0.14747	T	0.09115	0.38735	T	-0.350524	0.04694	T	-0.279016	0.46905	T	0.00928954911060886	0.00118	T	0.621638	0.24364	T	0.034744233	0.03958	0.032573316	0.02014	0.033782486	0.03665	0.027065253	0.00834	-3.247	0.13063	T	0.09114623702421147	0.05752	0.068	0.07507	B	.;.	.;.	1.675540	0.21359	15.16	0.97746549279741712	0.35714	0.26711	0.23071	N	AEFDBI	0.029261	0.02731	N	-0.42219843412744	0.24693	1.335111	-0.248005505942052	0.29840	1.675123	0.999912977257654	0.45857	0.732398	0.92422	0	0.723133	0.82719	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.03	3.87	0.43823	0.848000	0.27362	3.062000	0.36164	0.665000	0.62972	0.384000	0.26039	1.000000	0.68203	0.996000	0.76049	0.0:0.2071:0.2665:0.5264	3.094	0.05922	13	0.98894	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3001.98	43	chr3	47121539	.	T	C	3001.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.68;DP=1033;ExcessHet=0.0000;FS=2.025;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.53;ReadPosRankSum=-1.660e+00;SOR=0.874	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr3	47122647	47122647	T	G	exonic	SETD2	.	nonsynonymous SNV	SETD2:NM_001349370:exon2:c.A1857C:p.L619F	Luscan-Lumish syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.961	D	0.708	P	0.069	N	0.610	D	0.695	N	1.11	T	0.324	D	0.619	D	0.388	2.648	14.82	3.03	0.486	0.578	9.848	0.220	0.0523457504914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.08	0.41913	T	0.961	0.55431	D	0.621	0.51426	P	0.069343	0.21611	N	0.331275	0.61015	0.32614	D	0.805	0.20218	L	-2.71	0.90566	D	-0.99	0.51968	N	0.27	0.30574	0.324	0.87935	D	0.619	0.86568	D	10	0.18813914	0.34356	T	0.052346	0.65033	D	0.220	0.51569	0.252	0.19067	0.386522206555	0.38262	0.33474810973961094	0.33387	0.582462587002	0.54002	0.52076625824	0.41734	T	0.240852	0.60925	T	0.0905999	0.63257	D	-0.107636	0.62799	T	0.658206933786314	0.38817	D	0.79872	0.44372	T	0.11742104	0.27681	0.14938414	0.35274	0.11742104	0.27681	0.14938414	0.35273	-4.424	0.29880	T	0.25959012701761075	0.35063	0.089	0.36073	B	.;.	.;.	2.484343	0.32044	18.92	0.99746177316725326	0.83927	0.84539	0.43621	D	AEBI	0.099180	0.19969	N	0.124211317944405	0.47594	2.982947	0.144859445792893	0.46869	2.926038	0.995182838809271	0.33994	0.706548	0.73137	0	0.724815	0.89359	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	5.44	3.03	0.34070	0.574000	0.23416	1.826000	0.29078	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.195:0.0:0.805	9.848	0.40210	13	0.98894	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2808.98	43	chr3	47122647	.	T	G	2808.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.760e-01;DP=983;ExcessHet=0.0000;FS=4.517;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.78;ReadPosRankSum=1.25;SOR=0.533	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr3	47122861	47122861	G	T	exonic	SETD2	.	nonsynonymous SNV	SETD2:NM_001349370:exon2:c.C1643A:p.T548K	Luscan-Lumish syndrome, Autosomal dominant	.	426	1095	1	0	0	1	0.000456413	.	.	138958	not_specified|SETD2-related_disorder|Luscan-Lumish_syndrome|not_provided	MedGen:CN169374|.|MONDO:MONDO:0014791,MedGen:C4085873,OMIM:616831,Orphanet:597738|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.321	B	0.122	B	0.027	N	0.988	D	0.695	N	1.41	T	0.003	D	0.537	D	0.409	2.458	14.18	5.43	2.823	5.487	19.439	0.183	0.0331980202772	0.0012	0.00119808	0.0009	0	0.0006	0	0	0.0015	0	0.0001	0.0008538	132	154602	rs115569620	0.0007	0.0007	0.0008	0.0007	0.0017	0.0007	0.0007	0.0009	0.0007	0.0002	0.0009	0.0038	0	0.0004	0.0017	0.0007	0.0011	0.0002	0.0009	0.0009	0.0010	0.0008	0.0033	0.0008	0.0007	0.0025	0.0023	0.0002	0	0.0033	0.0035	0	9.418e-05	0	0.0009	0.0005	0	0.001	0.78490	D	0.026	0.55759	D	0.191	0.29411	B	0.076	0.28435	B	0.026824	0.25855	N	0.327930	0.988251	0.40731	D	1.905	0.50856	L	-2.41	0.88533	D	-1.64	0.66780	N	0.249	0.28146	0.003	0.82327	D	0.537	0.82892	D	10	0.0073198676	0.00166	T	0.033198	0.54812	D	0.183	0.45592	.	.	0.5421851814	0.53871	0.3380118173653461	0.33714	0.319964451716	0.34200	0.372560381889	0.21198	T	0.137073	0.46981	T	-0.189503	0.22330	T	-0.0905361	0.64122	T	0.0312066060654883	0.02178	T	0.758824	0.38273	T	0.21491124	0.43909	0.3121517	0.57218	0.2204533	0.44600	0.34064412	0.59813	-2.542	0.06075	T	0.19143732288903312	0.25117	0.146	0.39339	B	.;.	.;.	3.867983	0.56134	23.7	0.97153023177646969	0.32595	0.98241	0.80848	D	AEFGBI	0.552052	0.56387	D	0.162005472688573	0.49382	3.139213	0.341027121746346	0.57968	3.964915	0.999999999972245	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	5.43	5.43	0.79006	4.628000	0.60981	11.585000	0.93367	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.439	0.94803	13	0.98894	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1014.98	43	chr3	47122861	.	G	T	1014.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.550e-01;DP=881;ExcessHet=0.0000;FS=2.897;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=0.032;SOR=0.538	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr3	47123489	47123489	G	C	exonic	SETD2	.	nonsynonymous SNV	SETD2:NM_001349370:exon2:c.C1015G:p.L339V	Luscan-Lumish syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.146	B	0.057	B	.	.	0.995	N	0.345	N	2.44	T	-1.054	T	0.022	T	0.215	1.186	9.822	4.06	2.758	2.307	3.084	0.074	0.00266022905441	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1354211496	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.371	0.16425	T	0.146	0.27821	B	0.039	0.23607	B	.	.	.	.	0.994787	0.23443	N	1.39	0.34934	L	2.44	0.15145	T	-0.22	0.27463	N	0.188	0.20528	-1.0537	0.13386	T	0.022	0.09330	T	9	0.08811697	0.15142	T	0.00266	0.05434	T	0.074	0.21613	0.224	0.14813	0.220282294035	0.21616	0.10593293897313748	0.10523	0.280442592091	0.30528	0.39762160182	0.24737	T	0.090016	0.38496	T	-0.227334	0.17003	T	-0.564326	0.15973	T	0.164467157244467	0.18196	T	0.839116	0.51273	T	0.040376473	0.05751	0.06588037	0.13417	0.040376473	0.05751	0.06588037	0.13417	-4.534	0.31330	T	0.2664687210439594	0.35913	0.086	0.16886	B	.;.	.;.	2.830090	0.37305	20.5	0.96799024938121125	0.31142	0.90604	0.51918	D	AEFBI	0.271212	0.38711	N	-0.0947717851871296	0.37620	2.19142	0.0916981602559691	0.44129	2.700757	0.998637914057389	0.37351	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.0	4.06	0.46572	1.969000	0.40134	5.030000	0.46819	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1976:0.0:0.5613:0.2411	3.084	0.05893	13	0.98894	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1581.98	43	chr3	47123489	.	G	C	1581.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.460e-01;DP=881;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.25;ReadPosRankSum=0.603;SOR=0.701	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr3	47244807	47244807	A	C	exonic	KIF9	.	nonsynonymous SNV	KIF9:NM_001377474:exon14:c.T1273G:p.F425V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.002	B	0.008	B	0.946	N	1.000	N	0.895	L	1.01	T	-1.026	T	0.045	T	0.097	-0.756	0.799	-9.12	-1.867	-0.490	0.879	0.022	0.00351446564589	.	0.000599042	0.0003	0	0	0	0	0	0	0.0024	0.0002717	42	154602	rs565844112	0.0001	0.0001	6.126e-05	0.0001	0.0016	8.915e-05	8.4e-05	0.0014	0.0013	0	0	0	0	0	0	8.993e-07	0.0002	0.0016	5.254e-05	5.249e-05	3.855e-05	6.715e-05	0.0017	2.556e-05	1.829e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.499	0.07772	T	0.597	0.10465	T	0.001	0.09854	B	0.001	0.13708	B	0.945912	0.08321	N	0.973997	1	0.08975	N	1.87	0.49600	L	1.01	0.41058	T	-0.18	0.19509	N	0.15	0.16308	-1.0256	0.21886	T	0.045	0.19152	T	10	0.0060600042	0.00136	T	0.003514	0.07969	T	0.022	0.04323	0.111	0.02112	0.242825505644	0.23883	0.23661921599683025	0.23576	0.210139789538	0.23496	0.297239243984	0.09991	T	0.016837	0.13838	T	-0.627438	0.00099	T	-0.681311	0.06903	T	0.0300185426659477	0.01993	T	0.255674	0.15191	T	0.026117507	0.01628	0.025141405	0.00549	0.026117507	0.01628	0.025141405	0.00549	-1.843	0.03457	T	.	.	0.060	0.00876	B	.;.;.;.	.;.;.;.	-0.418819	0.02142	0.206	0.59423929262300978	0.06221	0.02295	0.06603	N	AEFDBHI	0.054008	0.09782	N	-1.62414906873818	0.01149	0.0499112	-1.74482084738038	0.00953	0.04266662	0.999999932395093	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.56	-9.12	0.00604	-0.504000	0.06456	-2.622000	0.03538	-0.186000	0.09761	0.000000	0.06391	0.000000	0.08366	0.131000	0.19607	0.1679:0.2148:0.1941:0.4231	0.879	0.01152	14	0.98855	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1412.98	39	chr3	47244807	.	A	C	1412.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.225e+00;DP=854;ExcessHet=0.0000;FS=0.778;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=-4.240e-01;SOR=0.589	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1194	20	0	1	0
chr3	47247423	47247423	T	C	exonic	KIF9	.	nonsynonymous SNV	KIF9:NM_001377474:exon11:c.A958G:p.I320V	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.281	B	0.122	B	0.000	D	1.000	N	1.23	L	0.57	T	-0.922	T	0.067	T	0.177	2.591	14.62	4.79	1.788	4.097	12.282	0.054	.	0.0035	0.0061901	0.0016	0.0131	0.0015	0	0	0.0003	0.0011	0.0010	0.0015718	243	154602	rs75653157	0.0009	0.0009	0.0009	0.0009	0.0156	0.0008	0.0008	0.0145	0.0141	0.0156	0.0020	0.0013	2.519e-05	0	0.0026	0.0004	0.0017	0.0007	0.0041	0.0041	0.0041	0.0040	0.0124	0.0038	0.0037	0.0115	0.0112	0.0124	0	0.0046	0.0009	0	0	0	0.0003	0.0052	0.0002	0.149	0.24758	T	0.31	0.23097	T	0.264	0.32101	B	0.057	0.32387	B	0.000029	0.55875	D	0.071936	0.691854	0.30184	N	2.395	0.69210	M	0.57	0.54347	T	-0.55	0.16799	N	0.497	0.53532	-0.9220	0.45279	T	0.067	0.27708	T	10	0.0068463087	0.00156	T	.	.	.	0.054	0.15330	.	.	0.478376075226	0.47469	0.20492456048297553	0.20409	0.289587884246	0.31370	0.638782858849	0.58391	T	0.027236	0.19988	T	-0.472081	0.00825	T	-0.439212	0.28898	T	0.0151413391513368	0.00330	T	0.834817	0.51273	T	0.10588383	0.25037	0.09638045	0.22898	0.10588383	0.25037	0.09638045	0.22898	-5.068	0.37569	T	.	.	0.176	0.41031	B	.;.;.;.	.;.;.;.	3.026522	0.40527	21.2	0.99457860475872573	0.65633	0.82262	0.41516	D	AEFDI	0.388535	0.46810	N	-0.0139996184260971	0.41221	2.461818	0.12249450274927	0.45701	2.828688	0.999816803131876	0.43459	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.79	4.79	0.60909	4.156000	0.57917	7.755000	0.68203	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	12.282	0.54086	14	0.98855	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	980.98	34	chr3	47247423	.	T	C	980.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.601;DP=789;ExcessHet=0.0000;FS=0.807;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=-1.000e+00;SOR=0.875	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1135	20	0	1	0
chr3	47248053	47248053	G	T	exonic	KIF9	.	nonsynonymous SNV	KIF9:NM_001377474:exon10:c.C868A:p.L290I	.	.	418	1101	3	0	0	3	0.00136054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.884	P	0.376	B	0.008	N	0.943	N	1.39	L	-0.7	T	-0.910	T	0.184	T	0.318	2.663	14.86	0.137	0.357	0.411	4.905	0.056	0.0216825233634	.	0.000998403	0.0003	0.0003	0	0	0	3.002e-05	0	0.0017	0.0002458	38	154602	rs529971026	0.0001	0.0001	6.263e-05	0.0001	0.0011	9.116e-05	8.646e-05	0.0009	0.0009	0.0001	0	0	0	0	0.0002	4.227e-05	6.624e-05	0.0011	0.0001	0.0001	0.0001	0.0002	0.0023	9.154e-05	7.708e-05	0.0013	0.0010	0.0002	0	0	0	0	0	0	2.941e-05	0	0.0023	0.408	0.10730	T	0.414	0.14369	T	0.097	0.48618	B	0.054	0.43735	B	0.007954	0.31104	N	0.215214	0.999901	0.22206	N	2.39	0.68882	M	-0.7	0.72785	T	-0.33	0.13035	N	0.394	0.43610	-0.9099	0.46867	T	0.184	0.53300	T	10	0.014291495	0.00301	T	0.021683	0.44481	T	0.056	0.15993	.	.	0.723681508034	0.72124	0.16284111919620786	0.16204	0.384670636365	0.39763	0.527569651604	0.42692	T	0.025285	0.18938	T	-0.363713	0.03924	T	-0.340777	0.40257	T	0.0498113212497627	0.05467	T	0.878012	0.59262	D	0.043945458	0.06937	0.035586335	0.02838	0.043945458	0.06937	0.035586335	0.02838	-6.957	0.54085	T	.	.	0.085	0.10014	B	.;.;.;.	.;.;.;.	2.001740	0.25432	16.76	0.98718156432374837	0.45157	0.15799	0.19087	N	AEFDI	0.120524	0.23475	N	-0.433315313138122	0.24309	1.311671	-0.427028778055204	0.24207	1.324339	0.958134907069466	0.28345	0.615465	0.37627	0	0.588066	0.40923	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	4.93	0.137	0.14085	0.516000	0.22523	1.578000	0.27457	0.618000	0.50648	0.209000	0.24412	0.879000	0.27682	0.996000	0.76049	0.3455:0.1537:0.5008:0.0	4.905	0.13147	14	0.98855	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	901.98	33	chr3	47248053	.	G	T	901.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=798;ExcessHet=0.0000;FS=1.800;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=0.246;SOR=0.968	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr3	47336729	47336729	A	G	exonic	KLHL18	.	nonsynonymous SNV	KLHL18:NM_025010:exon7:c.A1093G:p.R365G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.143	B	0.057	B	0.000	D	0.951	D	1.3	L	-1.24	T	-0.796	T	0.282	T	0.484	2.145	13.13	-2.97	-0.349	1.440	17.736	0.392	0.0772903832753	0.0005	0.000798722	0.0002	0.0024	8.661e-05	0	0	1.501e-05	0	6.059e-05	0.0002393	37	154602	rs111660522	7.935e-05	7.935e-05	9.256e-05	6.6e-05	0.0029	6.734e-05	6.267e-05	0.0024	0.0022	0.0029	0.0001	0	0	0	0.0002	2.698e-06	0.0001	2.319e-05	0.0008	0.0008	0.0008	0.0007	0.0026	0.0006	0.0006	0.0022	0.0021	0.0026	0	0.0002	0	0	0	0	1.47e-05	0.0014	0	0.365	0.11732	T	0.38	0.15988	T	0.0	0.02946	B	0.003	0.08700	B	0.000308	0.45977	D	0.194672	0.950687	0.37706	D	1.69	0.43327	L	-1.24	0.78967	T	-1.38	0.34198	N	0.523	0.55280	-0.7962	0.55368	T	0.282	0.65419	T	10	0.012426883	0.00267	T	0.07729	0.72735	D	0.392	0.70764	.	.	0.52399798419	0.52045	0.4979704387118321	0.49718	0.843942256685	0.68200	0.391779601574	0.23920	T	0.345477	0.71386	T	-0.302429	0.08432	T	-0.211186	0.53581	T	0.0201461715915864	0.00715	T	0.861714	0.55578	D	0.14357775	0.32992	0.124825425	0.30083	0.14357775	0.32992	0.124825425	0.30082	-5.218	0.39124	T	.	.	0.134	0.29004	B	.	.	2.548060	0.32975	19.20	0.97549843129695357	0.34560	0.90697	0.52091	D	AEFBI	0.474337	0.51864	N	-0.545211732344216	0.20633	1.089182	-0.465745152038679	0.23104	1.258244	0.851072282494541	0.25046	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.711	0.71501	0	.	.	5.34	-2.97	0.05195	1.101000	0.30650	0.739000	0.21146	0.674000	0.70861	0.955000	0.33325	0.805000	0.26985	0.996000	0.76049	0.2819:0.7181:0.0:0.0	17.736	0.88303	17	0.98681	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2173.98	40	chr3	47336729	.	A	G	2173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.290e-01;DP=869;ExcessHet=0.0000;FS=2.709;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=-5.220e-01;SOR=0.934	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1258	20	0	1	0
chr3	47406736	47406736	A	C	exonic	PTPN23	.	nonsynonymous SNV	PTPN23:NM_001304482:exon8:c.A415C:p.K139Q	.	.	.	.	.	.	.	.	.	.	.	1375282	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.995	D	0.855	P	0.000	D	1.000	D	1.915	M	2.11	T	-1.052	T	0.104	T	0.503	5.301	34	5.11	1.934	9.135	13.903	0.213	0.0324295997479	7.7e-05	.	8.447e-06	0	0	0	0	0	0	6.107e-05	6.5e-06	1	154602	rs142355354	1.163e-05	1.163e-05	1.225e-05	1.1e-05	0.0001	7.09e-06	5.79e-06	4.907e-05	3.165e-05	0	2.237e-05	0	0.0001	0	0	6.295e-06	1.657e-05	3.479e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.29288	T	0.002	0.79402	D	0.995	0.67487	D	0.855	0.60933	P	0.000007	0.62929	D	0.105878	1	0.81001	D	1.345	0.33447	L	2.11	0.19860	T	-3.1	0.63554	D	0.653	0.66358	-1.0522	0.13790	T	0.104	0.38292	T	10	0.673263	0.70840	D	0.03243	0.54256	D	0.213	0.50496	.	.	0.514164750395	0.51057	0.5063738269041009	0.50559	0.469675935113	0.46268	0.702721297741	0.67538	T	0.313175	0.68494	T	-0.144731	0.29139	T	-0.348819	0.39339	T	0.84099543094635	0.49409	D	0.949805	0.80758	D	0.698265	0.77961	0.3417842	0.59913	0.698265	0.77963	0.3417842	0.59913	-11.818	0.83953	D	.	.	0.378	0.58304	A	.	.	4.926677	0.81191	27.5	0.99322525247007143	0.59431	0.99149	0.91949	D	AEFDGBHCI	0.912231	0.87258	D	0.439076891784545	0.63586	4.595208	0.510956867862608	0.68727	5.260084	1.0	0.98316	0.706548	0.73137	0	0.697927	0.68747	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	5.11	5.11	0.69188	7.380000	0.78983	11.092000	0.85948	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	13.903	0.63319	19	0.98577	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1242.98	34	chr3	47406736	.	A	C	1242.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.825;DP=783;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.28;ReadPosRankSum=0.598;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1098	20	0	1	0
chr3	47411282	47411282	C	T	exonic	PTPN23	.	nonsynonymous SNV	PTPN23:NM_001304482:exon19:c.C3106T:p.R1036W	.	.	423	1093	5	1	0	7	0.00319197	.	.	1646977	Neurodevelopmental_disorder_and_structural_brain_anomalies_with_or_without_seizures_and_spasticity|PTPN23-related_disorder|not_provided	MONDO:MONDO:0030046,MedGen:C5394423,OMIM:618890|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.04	D	0.978	D	0.328	B	0.096	N	0.981	N	0.345	N	2.42	T	-1.040	T	0.021	T	0.265	2.356	13.84	3.81	2.468	2.344	4.739	0.088	0.016738907667	0.0002	0.000998403	0.0006	0.0001	0.0024	0	0	0.0006	0	6.105e-05	0.0007244	112	154602	rs147400377	0.0004	0.0004	0.0005	0.0004	0.0055	0.0004	0.0004	0.0040	0.0035	0.0001	0.0028	0.0003	0	5.896e-05	0.0055	0.0003	0.0011	0.0002	0.0005	0.0005	0.0003	0.0006	0.0027	0.0004	0.0004	0.0020	0.0018	0.0001	0	0.0027	0	0	0	0	0.0003	0.0024	0	0.01	0.56456	D	0.033	0.53072	D	0.978	0.58756	D	0.226	0.38054	B	0.096460	0.20075	N	0.501648	0.980531	0.25105	N	0.695	0.17993	N	2.42	0.15376	T	-2.19	0.49352	N	0.205	0.22742	-1.0395	0.17465	T	0.021	0.08824	T	10	0.009257555	0.00209	T	0.016739	0.38138	T	0.088	0.25558	.	.	0.182106788282	0.17826	0.4083734857680352	0.40753	0.367003839707	0.38272	0.537978053093	0.44160	T	0.234683	0.60177	T	-0.516806	0.00459	T	-0.52068	0.20226	T	0.041947418534338	0.04044	T	0.916908	0.70254	D	0.1328657	0.30924	0.08510369	0.19625	0.1328657	0.30924	0.08510369	0.19624	-7.734	0.59244	D	.	.	0.112	0.22061	B	.	.	3.798668	0.54724	23.5	0.99892422785053359	0.96589	0.88034	0.47789	D	AEFDBCI	0.434969	0.49580	N	0.09909109862296	0.46419	2.882617	0.149827379583211	0.47133	2.948156	0.999996226488679	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	4.78	3.81	0.43020	2.290000	0.43193	1.011000	0.23332	0.599000	0.40250	0.997000	0.40164	0.997000	0.33255	0.066000	0.16387	0.3445:0.5478:0.0:0.1077	4.739	0.12380	20	0.98525	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1084.98	43	chr3	47411282	.	C	T	1084.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.727;DP=982;ExcessHet=0.0000;FS=0.795;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=0.031;SOR=0.557	GT:AD:DP:GQ:PL	0/1:51,42:93:99:1099,0,1309	20	0	1	0
chr3	47412892	47412892	A	G	exonic	PTPN23	.	nonsynonymous SNV	PTPN23:NM_001304482:exon24:c.A4240G:p.I1414V	.	.	.	.	.	.	.	.	.	.	.	1211202	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.566	N	1.000	N	0	N	4.42	T	-0.935	T	0.004	T	0.086	-1.523	0.016	-1.1	-0.092	0.053	8.518	0.013	0.0019166808463	0.0012	0.000998403	0.0004	0.0042	0.0002	0	0	1.573e-05	0	0	0.0003558	55	154602	rs111852098	0.0001	0.0001	0.0001	9.927e-05	0.0046	0.0001	0.0001	0.0040	0.0038	0.0046	0.0003	0	0	0	0.0002	2.705e-06	0.0002	0	0.0011	0.0011	0.0012	0.0010	0.0038	0.0009	0.0009	0.0033	0.0031	0.0038	0	0.0003	0	0	0	0	1.475e-05	0.0014	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.566035	0.05452	N	1.274510	1	0.08975	N	0.345	0.11182	N	4.42	0.02177	T	0.21	0.04776	N	0.045	0.01740	-0.9346	0.43455	T	0.004	0.01365	T	10	0.0037618876	0.00070	T	0.001917	0.03404	T	0.013	0.01715	.	.	0.134007934775	0.12933	0.12540307473598242	0.12466	0.0522162305088	0.05745	0.431750178337	0.29448	T	0.036735	0.24216	T	-0.68088	0.00047	T	-0.750135	0.03480	T	0.00348011345274469	0.00037	T	0.346965	0.07635	T	0.024399515	0.01267	0.02484025	0.00510	0.024399515	0.01267	0.02484025	0.00510	-1.628	0.02048	T	.	.	0.058	0.00717	B	.	.	0.097903	0.04999	1.557	0.65147556465362244	0.07691	0.08494	0.14416	N	AEFDBCI	0.047983	0.08140	N	-1.36689613049696	0.02954	0.1312127	-1.31505418730076	0.04235	0.1993377	0.999955199056079	0.48110	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.2	-1.1	0.09367	-0.144000	0.10263	-0.090000	0.12069	-0.208000	0.08445	0.000000	0.06391	0.000000	0.08366	0.715000	0.34611	0.292:0.1835:0.5244:0.0	8.518	0.32420	20	0.98525	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	466.98	70	chr3	47412892	.	A	G	466.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.240e-01;DP=1124;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.98;ReadPosRankSum=-1.777e+00;SOR=0.620	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	20	0	1	0
chr3	47417407	47417407	C	A	exonic	SCAP	.	nonsynonymous SNV	SCAP:NM_001320044:exon14:c.G2099T:p.G700V	.	.	423	1086	13	0	0	13	0.00594966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.023	B	0.049	B	0.082	N	1.000	D	0.695	N	0.88	T	-0.761	T	0.280	T	0.326	1.611	11.34	3.78	1.327	2.079	8.495	0.026	0.235139173524	0.0005	0.000199681	0.0017	0.0005	0.0023	0	0	0.0013	0.0038	0.0028	0.0005692	88	154602	rs368667083	0.0005	0.0005	0.0004	0.0006	0.0028	0.0005	0.0005	0.0023	0.0022	3.084e-05	0.0005	0.0006	8.053e-05	4.04e-05	0.0028	0.0004	0.0005	0.0026	0.0005	0.0005	0.0005	0.0005	0.0025	0.0004	0.0003	0.0014	0.0011	9.66e-05	0	0.0003	0.0009	0	0	0.0034	0.0006	0.0005	0.0025	0.029	0.45756	D	0.041	0.50514	D	0.007	0.14184	B	0.009	0.14300	B	0.081655	0.20854	N	0.511250	0.99995	0.58761	D	1.245	0.31408	L	-1.31	0.79666	T	-0.66	0.19085	N	0.356	0.39760	-0.7611	0.57345	T	0.280	0.65149	T	10	0.011494696	0.00251	T	0.235139	0.88442	D	0.026	0.05648	.	.	0.781689837656	0.77967	0.3237896988971577	0.32291	0.302057614253	0.32536	0.559126377106	0.47145	T	0.304556	0.67686	T	-0.318287	0.07039	T	-0.2349	0.51294	T	0.0122834131688905	0.00199	T	0.810219	0.46129	T	0.121218935	0.28510	0.109434545	0.26374	0.121218935	0.28510	0.109434545	0.26374	-5.842	0.44939	T	.	.	0.073	0.10256	B	.;.;.	.;.;.	1.972875	0.25064	16.63	0.96176023955323708	0.28945	0.87700	0.47328	D	AEFDBCI	0.489897	0.52761	N	-0.367827771219007	0.26622	1.454346	-0.220538961092951	0.30800	1.737378	0.999998161190436	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	4.66	3.78	0.42629	1.933000	0.39783	0.952000	0.22930	0.585000	0.30472	1.000000	0.71638	0.996000	0.32793	0.359000	0.25863	0.0:0.7627:0.1543:0.0831	8.495	0.32282	20	0.98525	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1121.98	42	chr3	47417407	.	C	A	1121.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.150e+00;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.26;ReadPosRankSum=-1.467e+00;SOR=0.818	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1250	20	0	1	0
chr3	47852890	47852890	C	T	exonic	MAP4	.	nonsynonymous SNV	MAP4:NM_001384681:exon17:c.G3187A:p.D1063N	.	.	415	1105	2	0	0	2	0.000904159	.	.	3210935	MAP4-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	.	.	1.000	D	.	.	2.16	T	-0.336	T	0.283	T	0.155	4.691	26.0	4.73	2.137	5.954	16.675	0.208	.	0.0015	0.000599042	0.0037	0.0003	0	0	0.0107	0.0054	0.0106	0.0007	0.0014683	227	154602	rs149929003	0.0024	0.0024	0.0024	0.0024	0.0027	0.0024	0.0023	0.0027	0.0026	0.0004	0.0003	3.906e-05	7.731e-05	0.0043	0.0009	0.0027	0.0032	0.0003	0.0015	0.0015	0.0016	0.0015	0.0026	0.0014	0.0013	0.0023	0.0022	0.0002	0	0.0008	0	0	0.0029	0	0.0026	0.0009	0	0.017	0.59928	D	0.035	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	.	.	.	2.16	0.34841	T	-1.06	0.44284	N	0.614	0.63035	-0.3360	0.73959	T	0.283	0.65468	T	8	0.00811401	0.00184	T	.	.	.	0.208	0.49714	.	.	0.567854738105	0.56450	.	.	.	.	.	.	.	.	.	.	-0.456291	0.01036	T	-0.43251	0.29651	T	0.0529495140723534	0.06011	T	0.984402	0.94639	D	.	.	.	.	.	.	.	.	-9.208	0.69025	D	.	.	0.946	0.88107	P	.;.;.	.;.;.	2.677930	0.34927	19.76	0.99910384557276355	0.98022	0.87109	0.46551	D	AEFDBCI	0.798896	0.72531	D	0.620941121328068	0.74502	6.143385	0.600256661413865	0.74958	6.226655	0.999999999672897	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	6.014000	0.70438	7.569000	0.60664	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	16.675	0.85134	9	0.99126	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1719.98	33	chr3	47852890	.	C	T	1719.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.174e+00;DP=839;ExcessHet=0.0000;FS=5.427;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.13;ReadPosRankSum=-4.450e-01;SOR=0.382	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1199	20	0	1	0
chr3	47867325	47867325	G	A	exonic	MAP4	.	nonsynonymous SNV	MAP4:NM_001384817:exon11:c.C1403T:p.S468F	.	.	428	1074	17	3	0	23	0.0105942	.	.	3210110	MAP4-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	1.000	N	1.585	L	-3.48	D	0.339	D	0.820	D	0.512	3.805	19.32	4.29	2.413	4.121	12.216	0.672	0.295561311245	0.0032	0.00179712	0.0031	0.0009	0.0029	0	0.0006	0.0045	0.0033	0.0019	0.0032276	499	154602	rs150907099	0.0045	0.0045	0.0044	0.0045	0.0053	0.0044	0.0043	0.0052	0.0052	0.0006	0.0031	0.0007	2.519e-05	0.0004	0.0031	0.0053	0.0045	0.0016	0.0034	0.0034	0.0033	0.0035	0.0054	0.0032	0.0031	0.0048	0.0046	0.0010	0.0143	0.0054	0.0006	0.0002	0.0004	0	0.0052	0.0052	0.0019	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	1.665	0.42610	L	-3.48	0.94584	D	-4.37	0.79482	D	0.484	0.69825	0.339	0.88170	D	0.820	0.93952	D	9	0.011303484	0.00248	T	0.295561	0.90710	D	0.672	0.87868	.	.	0.616639467345	0.61354	0.6311990139498651	0.63053	0.517218207095	0.49593	0.640708565712	0.58665	T	0.739265	0.93866	D	-0.126497	0.32064	T	0.052058	0.73719	D	0.0389167667814701	0.03495	T	0.972478	0.90093	D	0.48620215	0.66275	0.563218	0.74723	0.48620215	0.66276	0.563218	0.74724	-14.682	0.96504	D	.	.	0.796	0.80786	P	.;.;.;.;.	.;.;.;.;.	5.382233	0.90195	31	0.99838993567598544	0.91972	0.95999	0.67077	D	AEFBI	0.497048	0.53173	N	0.622024777006955	0.74568	6.155068	0.603569509033206	0.75198	6.268456	0.999941365784735	0.47345	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.18	4.29	0.50359	4.186000	0.58135	9.893000	0.82289	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0817:0.0:0.9183:0.0	12.216	0.53716	9	0.99126	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	599.98	33	chr3	47867325	.	G	A	599.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=776;ExcessHet=0.0000;FS=3.270;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.69;ReadPosRankSum=-4.030e-01;SOR=1.123	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1082	20	0	1	0
chr3	47877502	47877502	C	T	exonic	MAP4	.	nonsynonymous SNV	MAP4:NM_001384817:exon5:c.G482A:p.G161E	.	.	429	1092	1	0	0	1	0.000457666	.	.	3284889	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.34	T	0.998	D	0.979	D	.	.	0.998	N	1.61	L	3.05	T	-1.019	T	0.132	T	0.401	2.468	14.21	2.03	0.910	0.394	4.035	0.094	0.0269859151082	7.7e-05	0.000199681	5.824e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs138150160	4.448e-05	4.446e-05	3.541e-05	5.365e-05	5.038e-05	3.576e-05	3.258e-05	3.978e-05	3.575e-05	0	4.474e-05	0.0003	0	0	0	5.038e-05	0	0	0.0001	0.0001	0.0001	6.716e-05	0.0002	6.509e-05	5.321e-05	0.0001	8.878e-05	0	0	6.54e-05	0.0006	0	0	0	0.0002	0	0	0.003	0.72154	D	0.46	0.46862	T	0.997	0.70673	D	0.951	0.68939	D	.	.	.	.	0.998147	0.44558	D	1.445	0.36358	L	3.01	0.20122	T	-3.88	0.75375	D	0.172	0.20395	-1.0189	0.24074	T	0.132	0.44327	T	9	0.055051148	0.05957	T	0.026986	0.49848	D	0.094	0.27141	.	.	0.423100939653	0.41925	0.05572257678198632	0.05513	0.152093685501	0.17161	0.337380170822	0.16045	T	0.039691	0.69882	T	-0.291382	0.09497	T	-0.440992	0.28697	T	0.282822378945746	0.24289	T	0.89491	0.64041	D	0.21963407	0.44500	0.23647124	0.48920	0.21963407	0.44500	0.23647124	0.48919	-2.546	0.07371	T	.	.	0.173	0.43269	B	.;.;.;.;.;.	.;.;.;.;.;.	1.985020	0.25217	16.68	0.99448168187344743	0.65122	0.09505	0.15246	N	ALL	0.082608	0.16729	N	-0.104297110342977	0.37206	2.161255	-0.180263753553964	0.32262	1.833791	0.999987355950668	0.51787	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.616919	0.45865	0	.	.	6.17	2.03	0.25714	0.462000	0.21667	1.460000	0.26674	0.599000	0.40250	0.014000	0.18986	0.258000	0.23964	0.417000	0.27162	0.2486:0.3319:0.3441:0.0754	4.035	0.09209	9	0.99126	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	960.98	33	chr3	47877502	.	C	T	960.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.67;DP=765;ExcessHet=0.0000;FS=2.156;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=1.01;SOR=1.129	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr3	47910712	47910712	C	G	exonic	MAP4	.	nonsynonymous SNV	MAP4:NM_001385664:exon8:c.G3640C:p.E1214Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517	N	.	.	2.59	T	-1.053	T	0.048	T	0.038	2.059	12.84	4.24	1.349	1.568	12.668	0.039	0.0128529258903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.769e-05	0.0009	6.039e-05	7.517e-05	0.0002	5.633e-05	5.225e-05	6.57e-05	6.053e-05	0	0	3.979e-05	0	0	0.0002	7.944e-05	8.687e-05	1.266e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.213	0.26467	T	.	.	.	.	.	.	.	.	.	.	1	0.31597	N	.	.	.	2.59	0.13317	T	-0.35	0.12847	N	0.167	0.17691	-1.0527	0.13655	T	0.048	0.20355	T	5	0.09787628	0.17658	T	0.012853	0.31779	T	0.039	0.10176	0.211	0.12923	0.19168177325	0.18762	.	.	.	.	.	.	.	0.022675	0.17443	T	-0.326119	0.06410	T	-0.706224	0.05492	T	0.305331349372864	0.25223	T	0.729327	0.34443	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.43448	B	.	.	2.347421	0.30093	18.33	0.98505090803648987	0.42264	0.24800	0.22505	N	AEFGBCI	.	.	.	-0.124211931171064	0.36340	2.099225	-0.149403042939749	0.33432	1.912276	0.999999966076043	0.74766	0.421363	0.06395	0	0.546412	0.12157	0	0.536957	0.11973	0	0.466023	0.07079	0	.	.	5.13	4.24	0.49486	0.771000	0.26294	2.677000	0.33989	0.599000	0.40250	0.001000	0.13787	0.986000	0.30841	0.956000	0.50813	0.0:0.8339:0.1661:0.0	12.668	0.56215	8	0.99202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	176.26	123	chr3	47910712	.	C	G	176.26	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-5.915e+00;DP=2381;ExcessHet=0.1072;FS=208.328;InbreedingCoeff=-0.1454;MLEAC=2;MLEAF=0.067;MQ=60.00;MQRankSum=0.00;QD=0.74;ReadPosRankSum=-5.470e-01;SOR=9.490	GT:AD:DP:GQ:PL	./.:131,0:131:0:0,0,2775	13	0	2	6
chr3	47911004	47911004	C	T	exonic	MAP4	.	nonsynonymous SNV	MAP4:NM_001385664:exon8:c.G3348A:p.M1116I	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	3.23	T	-0.936	T	0.003	T	0.095	1.348	10.43	1.43	0.361	-0.368	5.726	0.008	.	.	0.0115815	0.0017	0.0320	0.0054	0	0	0	0.0076	0.0001	0.000815	126	154602	rs72909697	0.0009	0.0009	0.0011	0.0008	0.0326	0.0009	0.0009	0.0310	0.0303	0.0326	0.0020	0	0	0	0.0023	5.191e-05	0.0022	8.835e-05	0.0093	0.0094	0.0094	0.0093	0.0325	0.0089	0.0088	0.0311	0.0305	0.0325	0	0.0029	0	0	0	0	0.0002	0.0066	0	0.173	0.22573	T	0.465	0.12421	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-0.07	0.08033	N	0.172	0.18376	-0.9358	0.43272	T	0.003	0.01026	T	5	0.0027945638	0.00044	T	.	.	.	0.008	0.00669	0.214	0.13354	0.123314135267	0.11883	.	.	.	.	.	.	.	0.014688	0.12455	T	-0.704389	0.00034	T	-0.760208	0.03105	T	0.000391851407907039	0.00003	T	0.412459	0.10726	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.48736	B	.	.	-0.217527	0.03003	0.454	0.51009645455420538	0.04485	0.02396	0.06793	N	ALL	.	.	.	-0.800057513096817	0.13309	0.6547167	-0.917331731954871	0.11685	0.5968351	1.0	0.98316	0.676195	0.55175	0	0.546412	0.12157	0	0.564498	0.18976	0	0.466023	0.07079	0	.	.	5.38	1.43	0.21585	-0.481000	0.06631	-1.611000	0.05064	-0.850000	0.02721	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1361:0.6431:0.0:0.2208	5.726	0.17280	8	0.99202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3167.98	83	chr3	47911004	.	C	T	3167.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.244;DP=1755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=0.925;SOR=0.713	GT:AD:DP:GQ:PL	0/0:107,0:107:99:0,120,1800	20	0	1	0
chr3	48174283	48174283	C	G	splicing	CDC25A	NM_201567:exon8:c.810+1G>C;NM_001789:exon9:c.930+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.93	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.391	17.44	4.72	2.632	2.205	11.513	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.872e-07	1.71e-05	0	1.381e-06	3.025e-05	0	0	.	.	3.025e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392481	0.89476	D	0.325996	0.89343	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.000131	0.82956	27.9	0.98231250675388404	0.39396	0.95833	0.66349	D	AEFBI	.	.	.	1.00404451880619	0.95868	14.04926	0.84618449324408	0.92792	11.63411	0.999998650712667	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.082826	0.02530	0	0.117559	0.03655	0	0.957114	0.64042	5.6	4.72	0.59248	2.505000	0.45084	6.999000	0.57189	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.844000	0.39860	0.0:0.9136:0.0:0.0864	11.513	0.49752	22	0.98466	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	152.25	73	chr3	48174283	.	C	G	152.25	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-3.184e+00;DP=1667;ExcessHet=0.1072;FS=139.614;InbreedingCoeff=-0.1264;MLEAC=2;MLEAF=0.063;MQ=60.00;MQRankSum=0.00;QD=0.92;ReadPosRankSum=0.704;SOR=10.723	GT:AD:DP:GQ:PL	0/0:71,23:94:12:0,12,1055	14	0	2	5
chr3	48268752	48268752	A	C	exonic	ZNF589	.	nonsynonymous SNV	ZNF589:NM_016089:exon4:c.A1061C:p.H354P,	.	.	427	1094	0	1	0	2	0.000913242	.	.	748321	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	1.000	D	3.665	H	1.58	T	-0.690	T	0.227	T	0.314	3.356	17.31	0.891	0.652	5.019	5.975	0.353	.	.	0.00978435	0.0053	0	0.0002	0	0	1.519e-05	0.0022	0.0398	0.0044825	693	154602	rs546281978	0.0021	0.0021	0.0011	0.0031	0.0339	0.0020	0.0020	0.0329	0.0325	2.987e-05	0.0002	0	7.557e-05	0	0.0003	1.799e-05	0.0017	0.0339	0.0012	0.0012	0.0007	0.0018	0.0366	0.0011	0.0010	0.0322	0.0305	4.813e-05	0	0	0	0.0004	0	0	4.41e-05	0	0.0366	0.029	0.45756	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	3.685	0.94485	H	1.58	0.29085	T	-8.77	0.97742	D	0.434	0.47301	-0.6899	0.60913	T	0.227	0.59146	T	9	0.0066658556	0.00151	T	.	.	.	0.353	0.67418	.	.	0.373173300195	0.36924	0.10573605449341555	0.10503	0.783271439671	0.65388	0.618767857552	0.55555	T	0.511265	0.82726	D	-0.43066	0.01469	T	-0.36493	0.37482	T	0.312435595150886	0.25514	T	.	.	.	0.60607225	0.73017	0.5030957	0.71276	0.60607225	0.73018	0.5030957	0.71277	-8.629	0.65280	D	.	.	0.885	0.81783	P	.	.	3.409763	0.47294	22.4	0.92645131640735756	0.22120	0.91378	0.53413	D	AEFDGBCIJ	0.662846	0.63257	D	0.361841176604096	0.59369	4.11559	0.0955585706430214	0.44324	2.716419	0.999999937251222	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	0.891	0.891	0.18359	5.349000	0.65779	3.045000	0.36097	0.540000	0.25189	1.000000	0.71638	0.052000	0.21854	0.200000	0.21896	1.0:0.0:0.0:0.0	5.975	0.18610	21	0.98493	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	982.98	33	chr3	48268752	.	A	C	982.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=841;ExcessHet=0.0000;FS=3.194;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=0.586;SOR=0.395	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr3	48423797	48423797	C	T	exonic	PLXNB1	.	nonsynonymous SNV	PLXNB1:NM_001130082:exon3:c.G815A:p.R272H	.	.	426	1067	28	1	0	30	0.0138632	.	.	3192376	PLXNB1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.24	T	0.485	P	0.034	B	0.194	N	1.000	N	0.895	L	2.79	T	-0.975	T	0.011	T	0.108	0.278	5.503	1.82	0.431	0.774	5.463	0.021	0.0542521768028	0.0052	0.00239617	0.0047	0.0008	0.0032	0	0.0027	0.0050	0.0079	0.0100	0.0046377	717	154602	rs61729213	0.0059	0.0059	0.0056	0.0061	0.0177	0.0058	0.0057	0.0149	0.0139	0.0008	0.0032	0.0081	0.0001	0.0025	0.0177	0.0059	0.0059	0.0115	0.0040	0.0040	0.0040	0.0039	0.0106	0.0037	0.0036	0.0083	0.0074	0.0007	0.0132	0.0051	0.0072	0	0.0037	0.0204	0.0051	0.0076	0.0106	0.057	0.37966	T	0.111	0.37173	T	0.016	0.36856	B	0.001	0.22546	B	0.194289	0.16764	N	0.584617	1	0.08975	N	0.975	0.24501	L	2.79	0.11189	T	-0.94	0.25118	N	0.134	0.13484	-0.9746	0.36213	T	0.011	0.03903	T	10	0.008404374	0.00191	T	0.054252	0.65786	D	0.021	0.04004	.	.	0.20808081866	0.20439	0.39216153544610566	0.39131	0.271221807874	0.29642	0.384781897068	0.22932	T	0.086828	0.37810	T	-0.61637	0.00116	T	-0.648754	0.09042	T	0.00186751405759976	0.00019	T	0.747125	0.36981	T	0.14732799	0.33685	0.06697054	0.13791	0.14732799	0.33685	0.06697054	0.13791	-3.316	0.14285	T	.	.	0.086	0.20586	B	.;.;.	.;.;.	2.502600	0.32310	19.00	0.97602923478947878	0.34859	0.28506	0.23573	N	AEFDBCI	0.184760	0.31209	N	-0.695584778456766	0.16147	0.8201088	-0.697985827993386	0.17010	0.9025726	0.999563213366153	0.40425	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	4.73	1.82	0.24209	1.091000	0.30526	-0.331000	0.09890	0.545000	0.25583	0.626000	0.27965	0.063000	0.22074	0.019000	0.11356	0.0:0.4917:0.1949:0.3134	5.463	0.15923	15	0.98792	Sema domain|Sema domain|Sema domain;Sema domain|Sema domain|Sema domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1152.98	33	chr3	48423797	.	C	T	1152.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.650e-01;DP=813;ExcessHet=0.0000;FS=1.503;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.85;ReadPosRankSum=1.44;SOR=0.843	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1473	20	0	1	0
chr3	48432952	48432952	T	G	exonic	CCDC51	.	nonsynonymous SNV	CCDC51:NM_001256964:exon4:c.A692C:p.K231T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.975	D	0.000	D	1.000	D	2.39	M	0.22	T	-0.188	T	0.392	T	0.885	3.871	19.67	5.75	2.185	3.872	15.240	0.376	0.0949561317926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.009	0.67890	D	1.0	0.90584	D	0.975	0.73362	D	0.000000	0.84330	D	0.045197	0.999995	0.58761	D	2.565	0.75005	M	0.22	0.59983	T	-4.36	0.78388	D	0.718	0.72567	-0.1876	0.77989	T	0.392	0.74604	T	10	0.8032145	0.79694	D	0.094956	0.76344	D	0.376	0.69443	0.408	0.44230	0.837392679615	0.83584	0.5693833465723468	0.56866	0.808536611605	0.66620	0.701809763908	0.67405	T	0.356388	0.72325	T	0.277224	0.81079	D	0.160436	0.80834	D	0.989926934242249	0.80142	D	0.90471	0.67793	D	0.51897585	0.68201	0.33450773	0.59275	0.51897585	0.68202	0.33450773	0.59274	-6.769	0.59049	T	.	.	0.759	0.75430	P	.;.;.;.	.;.;.;.	4.161112	0.62489	24.5	0.99784375343054377	0.87043	0.96717	0.70563	D	ALL	0.616321	0.60292	D	0.681764502458037	0.78438	6.871636	0.645153649870544	0.78248	6.838552	0.999999999999795	0.74766	0.716459	0.82106	0	0.696144	0.67643	0	0.73237	0.93354	0	0.636168	0.56350	0	.	.	5.75	5.75	0.90390	3.895000	0.55971	5.015000	0.46700	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.913000	0.44837	0.0:0.0:0.0:1.0	15.240	0.73159	15	0.98792	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1513.98	42	chr3	48432952	.	T	G	1513.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.705e+00;DP=935;ExcessHet=0.0000;FS=1.368;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.56;ReadPosRankSum=-1.031e+00;SOR=0.619	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr3	48460226	48460226	G	A	exonic	ATRIP	.	nonsynonymous SNV	ATRIP:NM_001271023:exon8:c.G893A:p.R298Q	.	.	431	1086	5	0	0	5	0.00229674	.	.	734117	not_provided|ATRIP-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	1.0	D	0.996	D	0.000	D	0.779	N	1.52	L	1.55	T	-0.853	T	0.186	T	0.646	3.818	19.39	4.92	2.767	4.484	11.297	0.133	0.0316245628926	0.0005	0.000599042	0.0008	0	0.0003	0	0.0003	0.0003	0	0.0039	0.000705	109	154602	rs142899473	0.0005	0.0005	0.0004	0.0007	0.0043	0.0005	0.0005	0.0039	0.0038	8.961e-05	0.0002	0	0	0.0001	0.0016	0.0003	0.0007	0.0043	0.0004	0.0004	0.0003	0.0006	0.0046	0.0003	0.0003	0.0031	0.0026	7.215e-05	0	6.539e-05	0	0	0.0002	0	0.0005	0.0005	0.0046	0.393	0.37750	T	0.039	0.51421	D	1.0	0.90584	D	0.996	0.84481	D	0.000070	0.52346	D	0.195617	0.778644	0.29357	N	2.77	0.80896	M	0.97	0.42502	T	-0.81	0.24026	N	0.327	0.41360	-0.8530	0.51760	T	0.186	0.53556	T	9	0.009278595	0.00210	T	0.031625	0.53663	D	0.133	0.36157	.	.	0.423360453849	0.41956	0.2351661102112964	0.23431	0.928783125732	0.71741	0.290582060814	0.09006	T	0.078342	0.35868	T	-0.31884	0.06992	T	-0.230912	0.51684	T	0.118749482938802	0.14308	T	0.914708	0.70532	D	0.067357965	0.14579	0.076467335	0.16938	0.067357965	0.14578	0.076467335	0.16938	-2.923	0.09600	T	.	.	0.113	0.22245	B	.;.;.;.	.;.;.;.	5.019412	0.83409	28.0	0.999461364681548	0.99901	0.93534	0.58479	D	AEFBI	0.625718	0.60881	D	0.589722624014539	0.72534	5.820651	0.581147360748954	0.73589	5.995233	0.999885969783384	0.44867	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.85	4.92	0.64147	4.847000	0.62565	9.733000	0.81406	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.808000	0.38083	0.0:0.0:0.7111:0.2889	11.297	0.48518	13	0.98894	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1676.98	34	chr3	48460226	.	G	A	1676.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.340e-01;DP=888;ExcessHet=0.0000;FS=0.614;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.11;ReadPosRankSum=-7.410e-01;SOR=0.624	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr3	48464906	48464906	G	A	exonic	ATRIP	.	nonsynonymous SNV	ATRIP:NM_032166:exon11:c.G2050A:p.D684N	.	.	408	1097	17	0	0	17	0.00768883	.	.	708907	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.5	T	0.003	B	0.001	B	0.680	N	1.000	N	1.39	L	1.49	T	-1.008	T	0.087	T	0.03	0.318	5.722	2.48	0.355	1.042	6.684	0.018	0.00723937868986	0.0007	0.000199681	0.0013	9.714e-05	0.0036	0	0	0.0016	0.0023	0.0008	0.0012031	186	154602	rs72556553	0.0011	0.0011	0.0011	0.0012	0.0062	0.0011	0.0011	0.0046	0.0041	0.0001	0.0029	0.0111	0	5.627e-05	0.0062	0.0009	0.0020	0.0011	0.0010	0.0010	0.0011	0.0009	0.0020	0.0009	0.0008	0.0014	0.0012	9.62e-05	0	0.0020	0.0101	0	9.411e-05	0.0034	0.0011	0.0033	0.0006	0.479	0.08310	T	0.492	0.11479	T	0.003	0.11197	B	0.001	0.04355	B	0.679752	0.06085	N	1.149250	1	0.08975	N	0.895	0.22405	L	0.9	0.45248	T	-0.37	0.13226	N	0.103	0.13484	-1.0076	0.27665	T	0.087	0.33746	T	10	0.004082948	0.00080	T	0.007239	0.19198	T	0.018	0.03083	.	.	0.334659703779	0.33074	0.11301899000864628	0.11229	0.258188672319	0.28376	0.30975189805	0.11870	T	0.039457	0.25195	T	-0.68804	0.00043	T	-0.764463	0.02955	T	0.00635914047982672	0.00071	T	0.537746	0.20399	T	0.03663581	0.04544	0.028701387	0.01131	0.03663581	0.04543	0.028701387	0.01130	-7.755	0.59389	D	.	.	0.089	0.23290	B	.;.;.;.	.;.;.;.	1.334713	0.17401	13.14	0.94526634016363031	0.25021	0.17013	0.19650	N	AEFDGBCI	0.098768	0.19895	N	-0.945492110339035	0.09794	0.4651211	-0.927572186066435	0.11445	0.5830757	0.999999851282098	0.74766	0.645754	0.44609	0	0.702456	0.74545	0	0.696144	0.63334	0	0.662433	0.64102	0	.	.	5.26	2.48	0.29194	1.295000	0.32983	2.528000	0.33154	-0.119000	0.14319	0.003000	0.16062	0.086000	0.22461	0.768000	0.36443	0.1671:0.1532:0.6797:0.0	6.684	0.22321	13	0.98894	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1740.98	38	chr3	48464906	.	G	A	1740.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.860e-01;DP=939;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=1.23;SOR=0.724	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr3	48469163	48469163	C	T	exonic	SHISA5	.	nonsynonymous SNV	SHISA5:NM_001272082:exon4:c.G358A:p.A120T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.708	P	0.087	B	0.130	N	0.599	N	0.805	L	1.46	T	-1.053	T	0.058	T	0.245	3.665	18.63	3.8	1.084	1.061	8.89	0.034	0.00787447195	.	0.000199681	3.322e-05	0	0	0.0001	0	4.536e-05	0	0	2.59e-05	4	154602	rs181812731	3.698e-05	3.899e-05	4.087e-05	3.304e-05	5.038e-05	2.897e-05	2.595e-05	3.343e-05	2.956e-05	0	0	0	5.038e-05	0	0	4.317e-05	4.969e-05	1.159e-05	6.57e-06	6.562e-06	0	1.344e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.106	0.31532	T	0.34	0.21478	T	0.584	0.38894	P	0.04	0.23831	B	0.130040	0.18674	N	0.570861	0.599	0.32518	D	1.78	0.46185	L	1.46	0.46412	T	-1.32	0.33598	N	0.207	0.25989	-1.0530	0.13574	T	0.058	0.24204	T	10	0.06577343	0.08923	T	0.007874	0.20877	T	0.034	0.08419	.	.	0.589070934736	0.58582	0.18835402619465583	0.18753	0.140115118664	0.15791	0.443482547998	0.31052	T	0.149616	0.48870	T	-0.347603	0.04880	T	-0.472656	0.25230	T	0.0725125385774479	0.08999	T	0.565243	0.19970	T	0.11858205	0.27936	0.09588489	0.22761	0.11858205	0.27935	0.09588489	0.22760	-4.651	0.35271	T	.	.	0.073	0.04599	B	.;.;.;.;.;.	.;.;.;.;.;.	2.769935	0.36358	20.2	0.99874427450750769	0.95160	0.57688	0.30442	D	AEFDBHCI	0.270211	0.38633	N	-0.259513320616983	0.30724	1.715932	-0.175027699054182	0.32459	1.846798	0.999999925986829	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.68	3.8	0.42887	1.126000	0.30958	0.034000	0.13773	0.596000	0.33519	0.770000	0.29357	0.002000	0.18203	0.856000	0.40543	0.0:0.8943:0.0:0.1057	8.89	0.34587	13	0.98894	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	630.02	34	chr3	48469163	.	C	T	630.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.92;DP=718;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=0.997;SOR=0.657	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr3	48562916	48562916	G	A	exonic	UCN2	.	nonsynonymous SNV	UCN2:NM_033199:exon2:c.C209T:p.S70L,	.	.	426	1089	7	0	0	7	0.00320366	.	.	3337909	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.659	P	0.025	B	0.424	N	1.000	N	0.345	N	.	.	-1.073	T	0.036	T	0.311	2.967	15.89	5.14	2.659	2.698	9.536	0.090	0.00211168459348	0.0004	0.000199681	0.0003	0	0.0004	0	0	0.0003	0.002	0.0005	0.0001682	26	154602	rs140823487	0.0001	0.0001	0.0001	0.0001	0.0017	0.0001	0.0001	0.0009	0.0007	0.0001	4.596e-05	0	0	0	0.0017	0.0001	0.0001	0.0005	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	8.719e-05	0.0002	0.0001	2.412e-05	0	0	0	0	0	0	0.0003	0.0009	0.0004	0.028	0.46129	D	0.06	0.45744	T	0.659	0.40886	P	0.025	0.20508	B	0.424048	0.12833	N	0.642921	1	0.08975	N	0	0.06538	N	.	.	.	-3.83	0.72120	D	0.1	0.08227	-1.0727	0.08830	T	0.036	0.15422	T	9	0.047373593	0.04046	T	0.002112	0.03908	T	0.090	0.26093	.	.	0.0482279557977	0.04254	0.06705452693425677	0.06643	0.0359813614536	0.03795	0.47079962492	0.34789	T	0.379706	0.74240	T	-0.346149	0.04973	T	-0.400845	0.33286	T	0.153763473033905	0.17399	T	0.525947	0.17303	T	0.119884774	0.28219	0.14038877	0.33465	0.119884774	0.28219	0.14038877	0.33464	-3.263	0.13265	T	.	.	0.211	0.43909	B	.	.	3.225627	0.43964	21.8	0.99685507048792343	0.79574	0.18590	0.20323	N	AEFDBCI	0.191455	0.31865	N	-0.363104665671574	0.26794	1.465055	-0.358959276164418	0.26233	1.447642	0.999999642369872	0.74766	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	5.14	5.14	0.70008	2.335000	0.43588	7.088000	0.57495	0.676000	0.76740	0.197000	0.24273	1.000000	0.68203	0.167000	0.20881	0.0932:0.0:0.9068:0.0	9.536	0.38387	12	0.98946	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1760.98	35	chr3	48562916	.	G	A	1760.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.155;DP=848;ExcessHet=0.0000;FS=3.027;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=1.29;SOR=0.599	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1502	20	0	1	0
chr3	48564798	48564798	G	A	exonic	COL7A1	.	stopgain	COL7A1:NM_000094:exon118:c.C8803T:p.Q2935X,	EBD inversa, Autosomal recessive;EBD, Bart type, Autosomal dominant;EBD, localisata variant (3);Epidermolysis bullosa dystrophica, AD, Autosomal dominant;Epidermolysis bullosa dystrophica, AR, Autosomal recessive;Epidermolysis bullosa pruriginosa, Autosomal recessive, Autosomal dominant;Epidermolysis bullosa, pretibial, Autosomal recessive, Autosomal dominant;Toenail dystrophy, isolated, Autosomal dominant;Transient bullous of the newborn, Autosomal recessive, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	985813	Epidermolysis_bullosa_pruriginosa|not_provided	MONDO:MONDO:0011398,MedGen:C1275114,OMIM:604129,Orphanet:89843|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.680	N	0.969	D	.	.	.	.	.	.	.	.	.	15.354	49	5.62	2.651	1.994	12.831	.	.	.	.	6.047e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs767051948	3.147e-05	3.147e-05	1.634e-05	4.676e-05	0.0005	2.413e-05	2.158e-05	0.0004	0.0003	0	0	0	0	0	0	2.698e-06	0	0.0005	6.571e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.679995	0.10267	N	0.809286	0.781941	0.38731	D	.	.	.	.	.	.	.	.	.	0.692	0.69737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156219	0.69849	D	0.302778	0.88324	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.596376	0.96676	36	0.98683629546127405	0.44652	0.77277	0.37977	D	AEFDGBCI	0.174612	0.30175	N	0.506190872044613	0.67454	5.083947	0.290053345780797	0.54956	3.659417	0.999999901615366	0.74766	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.620204	0.46100	0	.	.	5.62	5.62	0.85714	2.372000	0.43911	3.759000	0.39711	-0.108000	0.15293	0.873000	0.30851	1.000000	0.68203	0.008000	0.08271	0.0:0.1641:0.8358:0.0	12.831	0.57128	12	0.98946	.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	967.98	33	chr3	48564798	.	G	A	967.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.304e+00;DP=731;ExcessHet=0.0000;FS=4.138;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.60;ReadPosRankSum=0.841;SOR=1.333	GT:AD:DP:GQ:PL	0/0:31,0:31:84:0,84,1260	20	0	1	0
chr3	48576767	48576767	C	T	exonic	COL7A1	.	nonsynonymous SNV	COL7A1:NM_000094:exon68:c.G5609A:p.R1870H,	EBD inversa, Autosomal recessive;EBD, Bart type, Autosomal dominant;EBD, localisata variant (3);Epidermolysis bullosa dystrophica, AD, Autosomal dominant;Epidermolysis bullosa dystrophica, AR, Autosomal recessive;Epidermolysis bullosa pruriginosa, Autosomal recessive, Autosomal dominant;Epidermolysis bullosa, pretibial, Autosomal recessive, Autosomal dominant;Toenail dystrophy, isolated, Autosomal dominant;Transient bullous of the newborn, Autosomal recessive, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	2126274	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.3	T	0.414	B	0.038	B	0.148	N	1.000	N	0.78	N	-3.39	D	-0.404	T	0.566	D	0.06	2.313	13.69	-11.9	-2.750	-2.097	15.983	0.245	0.0282404372092	.	.	0.0002	0	0	0.0008	0	0.0002	0	0.0003	0.0001423	22	154602	rs756690615	0.0001	0.0001	0.0001	0.0001	0.0005	9.405e-05	8.887e-05	0.0002	0.0002	2.988e-05	4.483e-05	0.0002	0.0004	0.0002	0.0005	8.635e-05	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0006	8.665e-05	7.257e-05	0.0002	8.387e-05	4.825e-05	0	0.0002	0.0003	0.0006	9.416e-05	0	0.0001	0.0005	0	0.675	0.04495	T	0.547	0.09522	T	0.414	0.35185	B	0.038	0.23361	B	0.147769	0.02938	N	1.840270	1	0.20372	N	1.65	0.42232	L	-3.39	0.94210	D	-0.13	0.08971	N	0.093	0.07262	-0.4036	0.71914	T	0.566	0.84258	D	10	0.020556033	0.00476	T	0.02824	0.50944	D	0.245	0.55201	.	.	0.53787198782	0.53439	0.7921411625777206	0.79166	0.308530585448	0.33167	0.270037353039	0.06146	T	0.24246	0.61120	T	-0.396686	0.02434	T	-0.408709	0.32375	T	0.021591553891096	0.00864	T	0.639136	0.25234	T	0.0182563	0.00347	0.03693297	0.03242	0.0182563	0.00347	0.03693297	0.03241	-8.957	0.67420	D	0.20026338926010548	0.26573	0.067	0.02458	B	.	.	-0.377669	0.02298	0.242	0.86104010121582442	0.16316	0.05813	0.11751	N	AEFGBCI	0.092182	0.18665	N	-1.66683024781728	0.00966	0.04186543	-1.80300104372907	0.00749	0.03341359	0.999999988765417	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.93	-11.9	0.00018	-2.659000	0.00924	-1.943000	0.04458	-1.577000	0.00925	0.000000	0.06391	0.000000	0.08366	0.413000	0.27073	0.0:0.6195:0.2714:0.1091	15.983	0.79920	12	0.98946	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2056.98	36	chr3	48576767	.	C	T	2056.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=887;ExcessHet=0.0000;FS=0.567;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=-7.020e-01;SOR=0.645	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1265	20	0	1	0
chr3	48586607	48586607	C	T	exonic	COL7A1	.	nonsynonymous SNV	COL7A1:NM_000094:exon26:c.G3359A:p.R1120K,	EBD inversa, Autosomal recessive;EBD, Bart type, Autosomal dominant;EBD, localisata variant (3);Epidermolysis bullosa dystrophica, AD, Autosomal dominant;Epidermolysis bullosa dystrophica, AR, Autosomal recessive;Epidermolysis bullosa pruriginosa, Autosomal recessive, Autosomal dominant;Epidermolysis bullosa, pretibial, Autosomal recessive, Autosomal dominant;Toenail dystrophy, isolated, Autosomal dominant;Transient bullous of the newborn, Autosomal recessive, Autosomal dominant	.	0	1513	9	0	0	9	0.0029654	.	.	698155	not_provided|COL7A1-related_disorder|Epidermolysis_bullosa_dystrophica|Recessive_dystrophic_epidermolysis_bullosa|Transient_bullous_dermolysis_of_the_newborn|Epidermolysis_bullosa_pruriginosa|Pretibial_dystrophic_epidermolysis_bullosa|Nonsyndromic_congenital_nail_disorder_8|Dominant_dystrophic_epidermolysis_bullosa_with_absence_of_skin|Generalized_dominant_dystrophic_epidermolysis_bullosa|Epidermolysis_bullosa_dystrophica_inversa,_autosomal_recessive	MedGen:C3661900|.|MONDO:MONDO:0006543,MedGen:C0079294,Orphanet:303|MONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600,Orphanet:79408,Orphanet:79409|MONDO:MONDO:0007548,MedGen:C1851573,OMIM:131705,Orphanet:79411|MONDO:MONDO:0011398,MedGen:C1275114,OMIM:604129,Orphanet:89843|Human_Phenotype_Ontology:HP:0012221,MONDO:MONDO:0007552,MedGen:C0432321,OMIM:131850,Orphanet:79410|MONDO:MONDO:0011852,MedGen:C1843761,OMIM:607523|MONDO:MONDO:0007557,MedGen:C0268371,OMIM:132000|MONDO:MONDO:0007549,MedGen:C0432322,OMIM:131750,Orphanet:231568|MedGen:C2673612	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.129	N	1.000	N	-0.695	N	-1.64	D	-0.922	T	0.129	T	0.12	1.798	11.97	0.953	0.319	1.046	8.012	0.158	0.0428427375251	0.0036	0.000399361	0.0031	0.0010	0.0011	0	0.0008	0.0045	0.0011	0.0028	0.0031759	491	154602	rs2228563	0.0038	0.0038	0.0038	0.0037	0.0042	0.0037	0.0037	0.0041	0.0041	0.0004	0.0017	0.0108	0	0.0008	0.0014	0.0042	0.0032	0.0026	0.0028	0.0028	0.0031	0.0024	0.0046	0.0025	0.0025	0.0042	0.0040	0.0006	0	0.0017	0.0095	0	0.0008	0	0.0046	0.0033	0.0025	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.128815	0.18717	N	0.444591	0.999922	0.19486	N	-1.52	0.00491	N	-1.64	0.82533	D	-0.16	0.09460	N	0.067	0.03956	-0.9222	0.45252	T	0.129	0.43848	T	10	0.004688561	0.00099	T	0.042843	0.60676	D	0.158	0.41098	.	.	0.590580555975	0.58733	0.5209445040255901	0.52017	0.252606816246	0.27827	0.321070939302	0.13585	T	0.221373	0.58492	T	-0.462681	0.00946	T	-0.436295	0.29224	T	0.00147749710570117	0.00015	T	0.423058	0.11286	T	0.14405924	0.33084	0.110729136	0.26702	0.14405924	0.33083	0.110729136	0.26701	-5.486	0.41737	T	0.09265633509580304	0.06011	0.070	0.03301	B	.	.	1.981291	0.25168	16.67	0.85344031077056537	0.15834	0.06857	0.12882	N	AEFGBCI	0.067384	0.13243	N	-0.964036264959286	0.09380	0.4436986	-0.734259174235576	0.16110	0.8506608	0.947065137571176	0.27735	0.661447	0.50134	0	0.53679	0.11191	0	0.644132	0.48003	0	0.542086	0.14980	0	.	.	4.98	0.953	0.18714	1.051000	0.30027	3.262000	0.37098	-0.167000	0.11441	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.2569:0.0:0.7431	8.012	0.29520	11	0.98996	von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1388.98	34	chr3	48586607	.	C	T	1388.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=807;ExcessHet=0.0000;FS=5.187;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=-2.218e+00;SOR=1.227	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1071	20	0	1	0
chr3	48587045	48587045	C	T	exonic	COL7A1	.	nonsynonymous SNV	COL7A1:NM_000094:exon25:c.G3203A:p.R1068H,	EBD inversa, Autosomal recessive;EBD, Bart type, Autosomal dominant;EBD, localisata variant (3);Epidermolysis bullosa dystrophica, AD, Autosomal dominant;Epidermolysis bullosa dystrophica, AR, Autosomal recessive;Epidermolysis bullosa pruriginosa, Autosomal recessive, Autosomal dominant;Epidermolysis bullosa, pretibial, Autosomal recessive, Autosomal dominant;Toenail dystrophy, isolated, Autosomal dominant;Transient bullous of the newborn, Autosomal recessive, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	1025344	Epidermolysis_bullosa_pruriginosa|Nonsyndromic_congenital_nail_disorder_8|Recessive_dystrophic_epidermolysis_bullosa|Pretibial_dystrophic_epidermolysis_bullosa|Dominant_dystrophic_epidermolysis_bullosa_with_absence_of_skin|Transient_bullous_dermolysis_of_the_newborn|Generalized_dominant_dystrophic_epidermolysis_bullosa|Epidermolysis_bullosa_dystrophica|not_provided	MONDO:MONDO:0011398,MedGen:C1275114,OMIM:604129,Orphanet:89843|MONDO:MONDO:0011852,MedGen:C1843761,OMIM:607523|MONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600,Orphanet:79408,Orphanet:79409|Human_Phenotype_Ontology:HP:0012221,MONDO:MONDO:0007552,MedGen:C0432321,OMIM:131850,Orphanet:79410|MONDO:MONDO:0007557,MedGen:C0268371,OMIM:132000|MONDO:MONDO:0007548,MedGen:C1851573,OMIM:131705,Orphanet:79411|MONDO:MONDO:0007549,MedGen:C0432322,OMIM:131750,Orphanet:231568|MONDO:MONDO:0006543,MedGen:C0079294,Orphanet:303|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.23	T	0.039	B	0.015	B	0.166	N	1.000	N	0.345	N	-1.26	T	-0.894	T	0.222	T	0.376	-0.091	3.553	3.78	1.478	0.149	9.416	0.159	0.0438396188647	.	.	4.072e-05	0	0	0	0	4.934e-05	0	8.559e-05	1.94e-05	3	154602	rs753761607	3.09e-05	3.078e-05	1.911e-05	4.282e-05	0.0005	2.356e-05	2.103e-05	0.0001	7.546e-05	0	0	0	2.527e-05	0	0.0005	2.974e-05	8.308e-05	3.525e-05	3.943e-05	3.94e-05	3.854e-05	4.035e-05	7.243e-05	1.715e-05	1.129e-05	1.92e-05	1.032e-05	7.243e-05	0	0	0	0	0	0	4.409e-05	0	0	0.262	0.16466	T	0.178	0.29639	T	0.039	0.21116	B	0.015	0.17295	B	0.166465	0.17504	N	0.473189	1	0.08975	N	1.79	0.46772	L	-1.26	0.79176	T	0.05	0.06369	N	0.364	0.40565	-0.8936	0.48614	T	0.222	0.58537	T	10	0.14475682	0.27467	T	0.04384	0.61186	D	0.159	0.41286	0.422	0.46529	0.801463742305	0.79960	0.1513218141200641	0.15054	0.308530585448	0.33167	0.433639913797	0.29706	T	0.220102	0.58329	T	-0.097063	0.36911	T	-0.26471	0.48352	T	0.137529298663139	0.16060	T	0.807119	0.45664	T	0.04785609	0.08248	0.045483217	0.06130	0.04785609	0.08247	0.045483217	0.06129	-3.823	0.21149	T	0.09321713767617702	0.06108	0.096	0.15520	B	.	.	2.676728	0.34910	19.76	0.80287741501779075	0.13132	0.07100	0.13125	N	AEFGBCI	0.064985	0.12650	N	-0.718379452365711	0.15506	0.7819984	-0.647557305567085	0.18278	0.9757433	0.983963802125778	0.30642	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.91	3.78	0.42629	0.979000	0.29098	2.595000	0.33490	0.599000	0.40250	0.039000	0.20931	0.994000	0.32194	0.659000	0.32940	0.0:0.7253:0.0:0.2747	9.416	0.37686	11	0.98996	von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1446.98	34	chr3	48587045	.	C	T	1446.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.633;DP=858;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.96;ReadPosRankSum=-6.240e-01;SOR=0.638	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr3	48592819	48592819	G	A	exonic	COL7A1	.	nonsynonymous SNV	COL7A1:NM_000094:exon7:c.C802T:p.P268S,	EBD inversa, Autosomal recessive;EBD, Bart type, Autosomal dominant;EBD, localisata variant (3);Epidermolysis bullosa dystrophica, AD, Autosomal dominant;Epidermolysis bullosa dystrophica, AR, Autosomal recessive;Epidermolysis bullosa pruriginosa, Autosomal recessive, Autosomal dominant;Epidermolysis bullosa, pretibial, Autosomal recessive, Autosomal dominant;Toenail dystrophy, isolated, Autosomal dominant;Transient bullous of the newborn, Autosomal recessive, Autosomal dominant	.	1	1510	11	0	0	11	0.00362917	.	.	295334	COL7A1-related_disorder|not_provided|Epidermolysis_bullosa_dystrophica_inversa,_autosomal_recessive|Recessive_dystrophic_epidermolysis_bullosa|Transient_bullous_dermolysis_of_the_newborn|Generalized_dominant_dystrophic_epidermolysis_bullosa|Pretibial_dystrophic_epidermolysis_bullosa|Dominant_dystrophic_epidermolysis_bullosa_with_absence_of_skin|Nonsyndromic_congenital_nail_disorder_8|Epidermolysis_bullosa_pruriginosa|Epidermolysis_bullosa_dystrophica	.|MedGen:C3661900|MedGen:C2673612|MONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600,Orphanet:79408,Orphanet:79409|MONDO:MONDO:0007548,MedGen:C1851573,OMIM:131705,Orphanet:79411|MONDO:MONDO:0007549,MedGen:C0432322,OMIM:131750,Orphanet:231568|Human_Phenotype_Ontology:HP:0012221,MONDO:MONDO:0007552,MedGen:C0432321,OMIM:131850,Orphanet:79410|MONDO:MONDO:0007557,MedGen:C0268371,OMIM:132000|MONDO:MONDO:0011852,MedGen:C1843761,OMIM:607523|MONDO:MONDO:0011398,MedGen:C1275114,OMIM:604129,Orphanet:89843|MONDO:MONDO:0006543,MedGen:C0079294,Orphanet:303	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.999	D	0.971	D	0.001	D	0.999	D	1.71	L	0.4	T	-0.550	T	0.216	T	0.508	1.688	11.60	4.31	2.136	7.206	14.436	0.395	0.0871801708063	0.0036	0.000399361	0.0031	0.0010	0.0011	0	0.0008	0.0045	0.0011	0.0032	0.00315	487	154602	rs35623035	0.0038	0.0038	0.0039	0.0038	0.0042	0.0037	0.0037	0.0041	0.0041	0.0004	0.0017	0.0108	0	0.0008	0.0014	0.0042	0.0032	0.0030	0.0028	0.0028	0.0031	0.0023	0.0045	0.0025	0.0024	0.0041	0.0040	0.0006	0	0.0017	0.0095	0	0.0008	0	0.0045	0.0033	0.0025	0.007	0.59928	D	0.0	0.92824	D	0.999	0.77913	D	0.971	0.72444	D	0.000819	0.41658	D	0.000000	0.998648	0.45212	D	1.84	0.48285	L	0.4	0.57261	T	-2.22	0.49846	N	0.639	0.65159	-0.5503	0.66775	T	0.216	0.57836	T	10	0.011737943	0.00255	T	0.08718	0.74884	D	0.395	0.71004	.	.	0.812661891187	0.81090	0.40786196069289565	0.40702	0.252204158462	0.27787	0.490709841251	0.37537	T	0.219956	0.58310	T	-0.31148	0.07618	T	-0.219105	0.52824	T	0.0361176411465149	0.03000	T	0.79972	0.44511	T	0.30195653	0.53080	0.32302374	0.58238	0.30195653	0.53080	0.32302374	0.58237	-7.721	0.59154	D	.	.	0.184	0.39915	B	.	.	4.304214	0.65746	24.9	0.92720303940524817	0.22218	0.94845	0.62529	D	AEFDGBHCI	0.877292	0.80183	D	0.620813809540143	0.74492	6.142015	0.574933740817397	0.73149	5.923295	0.999999999699786	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	4.31	4.31	0.50718	7.325000	0.78398	11.410000	0.92689	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.1479:0.8521:0.0	14.436	0.66857	10	0.99061	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1588.98	36	chr3	48592819	.	G	A	1588.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.63;DP=870;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.39;ReadPosRankSum=2.40;SOR=0.672	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1257	20	0	1	0
chr3	48639710	48639710	G	A	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon34:c.C9875T:p.T3292M,	.	.	420	1096	6	0	0	6	0.00272975	.	.	734145	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	D	1.04	L	-0.82	T	0.003	D	0.487	T	0.636	3.436	17.62	5.55	2.600	8.610	19.508	0.323	0.328995110149	7.7e-05	0.000798722	0.0008	9.705e-05	8.657e-05	0	0	0.0001	0.0034	0.0049	0.0006533	101	154602	rs376186501	0.0003	0.0003	0.0002	0.0004	0.0040	0.0003	0.0003	0.0036	0.0035	0	0.0001	0	2.519e-05	0	0.0026	5.936e-05	0.0004	0.0040	0.0002	0.0002	0.0001	0.0003	0.0048	0.0002	0.0001	0.0033	0.0028	2.405e-05	0	6.533e-05	0	0	0	0.0034	0.0001	0.0005	0.0048	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	1	0.81001	D	1.7	0.43825	L	-0.82	0.74053	T	-1.72	0.40850	N	0.502	0.53445	0.003	0.82311	D	0.487	0.80481	T	9	0.010765284	0.00238	T	0.328995	0.91696	D	0.323	0.64522	.	.	0.608661368051	0.60551	0.4866232991085486	0.48582	0.951033788563	0.72625	0.591078996658	0.51646	T	0.283623	0.65639	T	-0.170902	0.25097	T	-0.0177241	0.69179	D	0.0871992353793437	0.10883	T	0.940406	0.77539	D	0.1502373	0.34212	0.2658032	0.52418	0.1502373	0.34212	0.2658032	0.52417	-5.823	0.44774	T	.	.	0.315	0.54138	B	.	.	4.399149	0.67958	25.2	0.99781805326212525	0.86867	0.98986	0.89571	D	AEFGBI	0.911901	0.87180	D	0.616510593054461	0.74219	6.095525	0.594074094142613	0.74514	6.149965	0.999999999999986	0.74766	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.55	5.55	0.83298	8.734000	0.91236	9.872000	0.82135	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.168000	0.20914	0.0:0.0:1.0:0.0	19.508	0.95122	4	0.99387	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2057.98	35	chr3	48639710	.	G	A	2057.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.400e-01;DP=883;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=0.499;SOR=0.655	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1153	20	0	1	0
chr3	48639758	48639758	G	A	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon34:c.C9827T:p.P3276L,	.	.	421	1052	47	2	0	51	0.0236659	.	.	698156	CELSR3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	0.058	B	0.028	B	.	.	0.999	D	0.805	L	-0.48	T	-0.888	T	0.105	T	0.172	3.094	16.33	4.49	1.233	5.017	6.267	0.128	.	0.0062	0.00359425	0.0075	0.0012	0.0074	0	0.0029	0.0104	0.0168	0.0051	0.0072767	1125	154602	rs61729242	0.0079	0.0079	0.0078	0.0079	0.0390	0.0078	0.0077	0.0348	0.0332	0.0015	0.0066	0.0499	5.038e-05	0.0041	0.0390	0.0074	0.0104	0.0060	0.0062	0.0062	0.0064	0.0059	0.0080	0.0058	0.0057	0.0074	0.0072	0.0011	0	0.0060	0.0478	0	0.0036	0.0238	0.0080	0.0085	0.0060	0.0	0.91255	D	0.0	0.92824	D	0.012	0.16265	B	0.007	0.12992	B	.	.	.	.	0.999333	0.46701	D	1.65	0.42232	L	-0.48	0.70249	T	-2.7	0.57599	D	0.464	0.50056	-0.8880	0.49105	T	0.105	0.38489	T	9	0.0051828325	0.00113	T	.	.	.	0.128	0.35103	.	.	0.467483910872	0.46373	0.30267156966905423	0.30180	0.295121419121	0.31921	0.675325274467	0.63598	T	0.343702	0.71231	T	-0.371478	0.03519	T	-0.295991	0.45146	T	0.0751808807291779	0.09360	T	0.779122	0.41282	T	0.16058633	0.36010	0.17643678	0.40178	0.16058633	0.36010	0.17643678	0.40177	-4.595	0.32109	T	.	.	0.124	0.25946	B	.	.	3.561600	0.50119	22.9	0.99799961824778272	0.88461	0.94399	0.61041	D	AEFBI	0.534837	0.55372	D	-0.125447496584212	0.36285	2.095405	0.0344376320891939	0.41326	2.480925	0.999707340005375	0.41986	0.718356	0.82227	0	0.588015	0.36545	0	0.570548	0.19454	0	0.613276	0.41899	0	.	.	5.36	4.49	0.54177	5.120000	0.64523	6.362000	0.55510	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.1537:0.0:0.6964:0.1498	6.267	0.20143	4	0.99387	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2738.11	35	chr3	48639758	.	G	A	2738.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.161;DP=962;ExcessHet=0.1072;FS=0.946;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=1.90;SOR=0.764	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1153	19	0	2	0
chr3	48639983	48639983	C	T	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon34:c.G9602A:p.R3201Q,	.	.	426	1091	5	0	0	5	0.00228624	.	.	708919	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.26	T	0.899	P	0.17	B	.	.	0.996	D	0.975	L	-0.58	T	-0.845	T	0.079	T	0.074	3.111	16.39	3.98	2.267	2.686	16.776	0.100	.	0.0108	0.00998403	0.0030	0.0339	0.0013	0	0	9.265e-05	0.0012	0	0.0028266	437	154602	rs115648137	0.0010	0.0010	0.0011	0.0009	0.0323	0.0009	0.0009	0.0307	0.0301	0.0323	0.0017	0	0	0	0.0026	9.083e-05	0.0020	2.319e-05	0.0089	0.0089	0.0093	0.0085	0.0307	0.0085	0.0084	0.0293	0.0288	0.0307	0	0.0040	0	0	0	0	0.0002	0.0052	0	0.062	0.36912	T	0.327	0.18732	T	0.71	0.42074	P	0.082	0.29098	B	.	.	.	.	0.995548	0.42740	D	1.2	0.30300	L	-0.59	0.71543	T	-0.85	0.23156	N	0.179	0.19325	-0.8453	0.52291	T	0.079	0.31496	T	9	0.0035739243	0.00065	T	.	.	.	0.100	0.28662	.	.	0.494135641928	0.49047	0.2207787255585139	0.21992	0.432164153585	0.43397	0.307514727116	0.11532	T	0.246804	0.61633	T	-0.490731	0.00644	T	-0.453992	0.27256	T	0.0170828891610625	0.00455	T	0.888611	0.61875	D	0.09437485	0.22188	0.111455224	0.26886	0.09437485	0.22188	0.111455224	0.26885	-4.715	0.33585	T	.	.	0.084	0.09917	B	.	.	3.688008	0.52528	23.2	0.99749110590954015	0.84152	0.95334	0.64316	D	AEFBI	0.614476	0.60178	D	0.0885783799344464	0.45930	2.841461	0.177850107080979	0.48636	3.076838	0.999986579004849	0.51787	0.718356	0.82227	0	0.588015	0.36545	0	0.570548	0.19454	0	0.613276	0.41899	0	.	.	4.92	3.98	0.45383	1.741000	0.37862	4.942000	0.46218	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.754000	0.35928	0.0:0.8596:0.1404:0.0	16.776	0.85412	4	0.99387	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	778.98	35	chr3	48639983	.	C	T	778.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.76;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=-3.330e-01;SOR=0.616	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1153	20	0	1	0
chr3	48645053	48645053	C	T	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon25:c.G7954A:p.V2652I,	.	.	415	1105	2	0	0	2	0.000904159	.	.	698157	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.35	T	0.946	P	0.416	B	.	.	1.000	D	0.375	N	1.17	T	-1.140	T	0.039	T	0.292	2.212	13.35	3.36	0.574	3.769	11.473	0.077	.	0.0029	0.00339457	0.0010	0.0106	0	0	0	3.233e-05	0.0013	0.0003	0.0008926	138	154602	rs147124288	0.0004	0.0004	0.0005	0.0003	0.0126	0.0004	0.0004	0.0116	0.0112	0.0126	0.0007	0	2.554e-05	0	0.0009	3.291e-05	0.0013	0.0002	0.0034	0.0034	0.0033	0.0034	0.0114	0.0031	0.0030	0.0106	0.0102	0.0114	0	0.0017	0	0	0	0.0034	7.351e-05	0.0033	0.0002	0.422	0.09776	T	0.615	0.07568	T	0.946	0.53363	P	0.416	0.44962	B	.	.	.	.	0.999838	0.49637	D	1.31	0.32734	L	1.17	0.37910	T	-0.16	0.09460	N	0.291	0.32921	-1.1401	0.01354	T	0.039	0.16849	T	9	0.014098644	0.00297	T	.	.	.	0.077	0.22490	.	.	0.494978086899	0.49132	0.3612865869876449	0.36042	0.234775008265	0.26015	0.521224856377	0.41798	T	0.073209	0.34642	T	-0.480533	0.00734	T	-0.453634	0.27296	T	0.0295971232476332	0.01927	T	0.766723	0.39447	T	0.03142369	0.02978	0.051109187	0.08157	0.03142369	0.02978	0.051109187	0.08157	-4.927	0.36037	T	.	.	0.082	0.08560	B	.	.	3.755518	0.53860	23.4	0.95307136473922072	0.26634	0.97660	0.76227	D	AEFBI	0.358999	0.44948	N	-0.295876892052055	0.29308	1.624079	-0.202023432913998	0.31463	1.780869	0.998440099464838	0.36977	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	5.15	3.36	0.37579	3.834000	0.55500	1.409000	0.26264	-0.237000	0.07570	0.998000	0.41325	0.787000	0.26830	0.968000	0.53726	0.0:0.8528:0.0:0.1472	11.473	0.49527	4	0.99387	GPCR, family 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	981.98	38	chr3	48645053	.	C	T	981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.997e+00;DP=796;ExcessHet=0.0000;FS=2.197;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.11;ReadPosRankSum=-5.390e-01;SOR=0.446	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1379	20	0	1	0
chr3	48645117	48645117	C	T	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon25:c.G7890A:p.M2630I,	.	.	415	1027	71	9	0	89	0.0415306	.	.	48715	not_provided|Variant_of_unknown_significance	MedGen:C3661900|MedGen:C2986382	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	0.987	D	0.908	P	.	.	1.000	D	2.295	M	1.29	T	-0.644	T	0.226	T	0.875	5.093	31	5.24	2.450	7.460	18.828	0.393	.	0.0009	0.00319489	0.0044	0.0002	0.0027	0	0.0002	0.0026	0.0084	0.0197	0.0036869	570	154602	rs149614835	0.0024	0.0025	0.0019	0.0030	0.0382	0.0024	0.0024	0.0341	0.0325	0.0009	0.0017	0.0094	5.072e-05	0.0003	0.0382	0.0011	0.0040	0.0181	0.0018	0.0018	0.0015	0.0020	0.0190	0.0016	0.0015	0.0159	0.0147	0.0003	0	0.0020	0.0098	0	0.0002	0.0170	0.0013	0.0024	0.0190	0.006	0.61437	D	0.005	0.72224	D	0.987	0.61912	D	0.908	0.64494	P	.	.	.	.	1	0.81001	D	2.13	0.59329	M	1.29	0.35775	T	-3.59	0.69236	D	0.812	0.80767	-0.6440	0.62974	T	0.226	0.59007	T	9	0.011453748	0.00250	T	.	.	.	0.393	0.70844	0.547	0.66156	0.808317247251	0.80651	0.8152272965699411	0.81478	0.981655826999	0.73759	0.719656050205	0.69997	T	0.370865	0.73533	T	-0.112624	0.34336	T	0.0810421	0.75648	D	0.0384281591043975	0.03409	T	0.772323	0.40326	T	0.5032531	0.67286	0.45666093	0.68420	0.5032531	0.67287	0.45666093	0.68420	-10.2	0.75100	D	.	.	0.409	0.60090	A	.	.	4.422272	0.68507	25.2	0.99749842171488468	0.84152	0.98385	0.82238	D	AEFBI	0.885987	0.81699	D	0.678335262368401	0.78214	6.826448	0.68768746655041	0.81442	7.527931	0.999999999992481	0.74766	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	5.24	5.24	0.72863	7.541000	0.81014	2.197000	0.31255	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.828	0.92093	4	0.99387	GPCR, family 2-like	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2795.11	38	chr3	48645117	.	C	T	2795.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.390e-01;DP=888;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.41;ReadPosRankSum=-1.810e-01;SOR=0.726	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1379	19	0	2	0
chr3	48646874	48646874	G	A	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon21:c.C7184T:p.P2395L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.224	B	0.096	B	.	.	1.000	N	1.1	L	-0.44	T	-0.954	T	0.183	T	0.181	0.984	9.017	3.42	1.239	1.428	8.915	0.037	0.0631592220302	.	.	2.808e-05	0	0	0	0	5.137e-05	0	0	1.94e-05	3	154602	rs750836613	4.317e-05	4.515e-05	3.877e-05	4.763e-05	0.0003	3.437e-05	3.119e-05	0.0001	0.0001	0.0003	5.166e-05	0.0001	0	0	0	3.718e-05	0.0001	1.205e-05	3.948e-05	3.941e-05	5.144e-05	2.695e-05	4.831e-05	1.717e-05	1.131e-05	1.171e-05	6.25e-06	4.831e-05	0	0	0	0	0	0	4.411e-05	0.0005	0	0.348	0.12386	T	0.357	0.17115	T	0.018	0.17786	B	0.027	0.21085	B	.	.	.	.	1	0.08975	N	1.39	0.34934	L	-0.45	0.69896	T	-0.99	0.26200	N	0.25	0.28264	-0.9543	0.40221	T	0.183	0.53057	T	9	0.09673414	0.17372	T	0.063159	0.68882	D	0.037	0.09474	0.248	0.18447	0.502596446142	0.49897	0.3632829049986184	0.36242	0.336840717658	0.35678	0.297836005688	0.10080	T	0.084278	0.37244	T	-0.227507	0.16981	T	-0.417246	0.31393	T	0.0271229864240092	0.01562	T	0.69513	0.30474	T	0.032155085	0.03187	0.03918463	0.03952	0.032155085	0.03187	0.03918463	0.03952	-4.491	0.30770	T	.	.	0.076	0.05935	B	.	.	1.742085	0.22164	15.51	0.5479992047401302	0.05210	0.28264	0.23506	N	AEFBI	0.123230	0.23873	N	-0.84283929687399	0.12227	0.5946852	-0.832401771567534	0.13711	0.7127724	0.392842749735984	0.20062	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	5.26	3.42	0.38259	1.998000	0.40415	4.732000	0.44559	-0.108000	0.15293	0.043000	0.21118	1.000000	0.68203	0.150000	0.20306	0.0:0.4578:0.4127:0.1295	8.915	0.34736	4	0.99387	GAIN domain, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1896.98	35	chr3	48646874	.	G	A	1896.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.175e+00;DP=888;ExcessHet=0.0000;FS=2.622;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.84;ReadPosRankSum=-2.303e+00;SOR=0.565	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1417	20	0	1	0
chr3	48647948	48647948	C	T	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon20:c.G7022A:p.R2341H,	.	.	420	1094	7	1	0	9	0.0040965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.004	B	0.007	B	.	.	1.000	N	1.1	L	2.95	T	-0.985	T	0.022	T	0.147	1.433	10.73	-0.954	-0.145	0.242	10.239	0.024	0.00755221132403	.	0.000399361	0.0005	0	0.0003	0.0001	0	0	0.0034	0.0034	0.0004269	66	154602	rs574354699	0.0002	0.0002	0.0001	0.0003	0.0034	0.0002	0.0002	0.0030	0.0029	0	0	0	0.0001	0	0.0024	1.169e-05	0.0002	0.0034	8.552e-05	8.533e-05	5.147e-05	0.0001	0.0021	4.963e-05	3.967e-05	0.0011	0.0009	0	0	0	0	0.0004	0	0	0	0.0005	0.0021	0.185	0.21550	T	0.14	0.33554	T	0.003	0.11197	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.945	0.23706	L	2.95	0.09635	T	-0.56	0.17003	N	0.285	0.32259	-0.9845	0.33951	T	0.022	0.09330	T	9	0.00953874	0.00215	T	0.007552	0.20033	T	0.024	0.04979	0.543	0.65589	0.223474106383	0.21959	0.4242140037484205	0.42338	0.328660908213	0.34977	0.380007535219	0.22257	T	0.115768	0.43461	T	-0.620283	0.00110	T	-0.664609	0.07959	T	0.0313450222309768	0.02201	T	0.707729	0.31835	T	0.027174663	0.01873	0.045109425	0.05996	0.027174663	0.01873	0.045109425	0.05996	-4.297	0.28135	T	.	.	0.076	0.05756	B	.	.	1.097707	0.14821	11.35	0.9343131853635136	0.23203	0.11176	0.16459	N	AEFDBI	0.072035	0.14363	N	-1.23125841025568	0.04553	0.2057063	-1.21904679233473	0.05604	0.2674812	0.127596208219731	0.17023	0.695654	0.57023	0	0.670034	0.63936	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.94	-0.954	0.09831	0.089000	0.14843	-0.553000	0.08518	-1.631000	0.00853	0.003000	0.16062	0.000000	0.08366	0.816000	0.38450	0.0:0.6151:0.0:0.3849	10.239	0.42479	4	0.99387	GAIN domain, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	375.98	36	chr3	48647948	.	C	T	375.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.227e+00;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.06;ReadPosRankSum=1.44;SOR=0.603	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1156	20	0	1	0
chr3	48662268	48662268	G	C	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon1:c.C367G:p.R123G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.001	B	0.001	B	.	.	1.000	N	0	N	-0.54	T	-0.960	T	0.146	T	0.119	0.211	5.135	-1.19	-0.091	0.539	9.003	0.183	0.0516227902453	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.082	0.41573	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	-0.55	0.71068	T	-0.9	0.24244	N	0.108	0.09349	-0.9598	0.39218	T	0.146	0.47056	T	9	0.066880584	0.09238	T	0.051623	0.64738	D	0.183	0.45592	0.168	0.07302	0.421714571039	0.41790	0.1670929949419266	0.16629	0.985944068956	0.73906	0.25840601325	0.04703	T	0.199837	0.55723	T	-0.176212	0.24302	T	-0.490893	0.23298	T	0.0539714429026635	0.06184	T	0.770923	0.40135	T	0.11712007	0.27615	0.19552003	0.43233	0.11712007	0.27615	0.19552003	0.43232	-3.27	0.13353	T	.	.	0.060	0.00979	B	.	.	1.653640	0.21093	15.05	0.95445407176075014	0.26957	0.02760	0.07451	N	AEFDGBHCI	0.119171	0.23271	N	-1.03029946650001	0.07980	0.3725731	-1.04934925088641	0.08720	0.4301531	0.999999749920934	0.74766	0.766844	0.99359	0	0.606814	0.50340	0	0.851219	0.99655	0	0.63947	0.58350	0	.	.	4.68	-1.19	0.09091	0.259000	0.18174	1.286000	0.25382	0.672000	0.70159	0.001000	0.13787	0.001000	0.17328	0.323000	0.25040	0.0:0.2372:0.2791:0.4837	9.003	0.35254	3	0.99430	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2474.98	33	chr3	48662268	.	G	C	2474.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.91;DP=920;ExcessHet=0.0000;FS=4.134;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=-3.380e-01;SOR=0.844	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1303	20	0	1	0
chr3	48678641	48678641	T	C	exonic	NCKIPSD	.	nonsynonymous SNV	NCKIPSD:NM_016453:exon12:c.A1888G:p.I630V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.536	P	0.223	B	0.000	U	0.997	D	1.745	L	0.92	T	-0.987	T	0.107	T	0.455	2.892	15.64	5.37	2.021	5.851	11.383	0.171	0.0119321600279	7.7e-05	0.000199681	0.0003	0	0	0	0	0.0002	0	0.0018	0.0002717	42	154602	rs367872973	0.0001	0.0001	8.712e-05	0.0001	0.0011	9.94e-05	9.348e-05	0.0009	0.0009	0	0	0	0	0	0	5.665e-05	9.935e-05	0.0011	8.533e-05	8.529e-05	2.569e-05	0.0001	0.0012	4.952e-05	3.959e-05	0.0005	0.0004	0	0	0	0	0	0	0	0.0001	0	0.0012	0.017	0.51248	D	0.031	0.54541	D	0.48	0.37827	P	0.143	0.37929	B	0.000016	0.62929	U	0.066668	0.996718	0.43371	D	2.085	0.57729	M	0.92	0.44461	T	-0.72	0.20358	N	0.579	0.60071	-0.9868	0.33396	T	0.107	0.38931	T	10	0.04712096	0.03989	T	0.011932	0.30037	T	0.171	0.43483	.	.	0.456462010053	0.45270	0.2212414874006189	0.22039	0.227959187337	0.25349	0.572364032269	0.49012	T	0.126572	0.45304	T	-0.371896	0.03499	T	-0.342357	0.40078	T	0.0518580872156677	0.05824	T	0.914109	0.69400	D	0.17212075	0.37884	0.08623454	0.19965	0.17212075	0.37884	0.08623454	0.19965	-4.587	0.32008	T	.	.	0.092	0.26232	B	.;.;.	.;.;.	3.359398	0.46376	22.3	0.99663832294329646	0.78138	0.97120	0.72807	D	AEFGBI	0.752593	0.69304	D	0.259554883041016	0.54113	3.577733	0.364138391700427	0.59363	4.113591	0.999999963319067	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.37	5.37	0.76949	5.832000	0.69048	6.096000	0.53498	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.1513:0.8487	11.383	0.49009	3	0.99430	.;Domain of unknown function DUF2013;Domain of unknown function DUF2013	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	948.98	33	chr3	48678641	.	T	C	948.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.067;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.31;ReadPosRankSum=-6.280e-01;SOR=0.741	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1196	20	0	1	0
chr3	48694930	48694930	T	C	exonic	IP6K2	.	nonsynonymous SNV	IP6K2:NM_001190316:exon3:c.A527G:p.H176R	.	.	390	1126	6	0	0	6	0.00265722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.011	B	0.025	B	.	.	1.000	D	0	N	0.77	T	-1.082	T	0.063	T	0.119	0.785	8.142	3.3	1.048	0.536	6.622	0.057	0.0126109212999	.	0.000199681	0.0016	0	0	0	0	0.0002	0	0.0038	0.0002652	41	154602	rs200668427	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0029	0.0028	0	0	0	0	0	0.0012	4.888e-05	0.0003	0.0032	0.0002	0.0002	0.0002	0.0002	0.0035	0.0001	0.0001	0.0022	0.0018	9.625e-05	0	6.534e-05	0	0	0	0	8.822e-05	0	0.0035	0.0	0.91255	D	0.073	0.43531	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.66	0.52416	T	-0.26	0.11185	N	0.131	0.29197	-1.0820	0.06965	T	0.063	0.26244	T	9	0.0056069493	0.00124	T	0.012611	0.31334	T	0.057	0.16321	0.088	0.00943	0.138757226776	0.13463	.	.	.	.	.	.	.	.	.	.	-0.479594	0.00743	T	-0.465044	0.26053	T	0.104573277152844	0.12852	T	0.378962	0.09121	T	.	.	.	.	.	.	.	.	-2.934	0.09967	T	.	.	0.157	0.40213	B	.;.;.;.;.;.	.;.;.;.;.;.	2.112772	0.26887	17.27	0.98038988957422435	0.37774	0.76133	0.37317	D	ALL	0.273553	0.38893	N	-0.545773530887192	0.20616	1.08812	-0.40201580517333	0.24937	1.368489	0.999999999952624	0.74766	0.730579	0.87903	0	0.577304	0.33150	0	0.749866	0.98131	0	0.654926	0.60358	0	.	.	4.46	3.3	0.36912	0.975000	0.29046	3.552000	0.39052	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.886000	0.42526	0.0:0.1054:0.0:0.8946	6.622	0.22004	2	0.99499	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1600.98	38	chr3	48694930	.	T	C	1600.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.078e+00;DP=855;ExcessHet=0.0000;FS=2.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.54;ReadPosRankSum=-9.740e-01;SOR=0.484	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1178	20	0	1	0
chr3	48752272	48752272	G	A	exonic	PRKAR2A	.	nonsynonymous SNV	PRKAR2A:NM_001321983:exon9:c.C919T:p.R307C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.91	D	0.000	D	1.000	D	3.16	M	-3.16	D	1.018	D	0.908	D	0.837	5.473	35	5.01	2.779	9.584	18.873	0.389	0.223933962239	0.0002	.	0.0002	0	0	0	0	0.0003	0	0.0004	0.0001552	24	154602	rs146193506	6.293e-05	6.293e-05	4.9e-05	7.7e-05	0.0005	5.228e-05	4.845e-05	0.0004	0.0003	0	2.237e-05	0	0	1.872e-05	0	4.047e-05	3.312e-05	0.0005	3.286e-05	3.283e-05	3.855e-05	2.69e-05	0.0002	1.261e-05	7.98e-06	4.88e-06	1.83e-06	2.413e-05	0	6.551e-05	0	0	0	0	2.94e-05	0	0.0002	0.002	0.72154	D	0.004	0.74150	D	0.999	0.77913	D	0.826	0.59373	P	0.000001	0.62929	D	0.057083	1	0.81001	D	2.505	0.72935	M	-3.16	0.92996	D	-5.47	0.85617	D	0.614	0.66787	1.018	0.97505	D	0.908	0.96949	D	10	0.78133523	0.77879	D	0.223934	0.87925	D	0.860	0.95728	.	.	0.94061181125	0.93999	0.7114633919220158	0.71088	1.38609513779	0.84885	0.360798716545	0.19502	T	0.836657	0.96152	D	0.190898	0.73046	D	0.352592	0.90419	D	0.740867078304291	0.42784	D	0.981202	0.93547	D	0.5699143	0.71056	0.4684128	0.69165	0.5699143	0.71058	0.4684128	0.69165	-10.71	0.79768	D	.	.	0.123	0.25656	B	.;.;.	.;.;.	5.899452	0.93994	33	0.99923438101637474	0.98917	0.99385	0.95344	D	AEFDBI	0.926855	0.90863	D	0.958787452701081	0.94328	12.67314	0.901269596185656	0.95627	13.80632	0.999999999999598	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.567339	0.31927	0	.	.	5.01	5.01	0.66477	8.098000	0.89376	11.742000	0.95215	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:1.0:0.0	18.873	0.92293	2	0.99499	Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain;Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain;Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1487.98	34	chr3	48752272	.	G	A	1487.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=821;ExcessHet=0.0000;FS=2.199;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=-5.650e-01;SOR=0.921	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1211	20	0	1	0
chr3	49004926	49004926	G	A	exonic	P4HTM	.	nonsynonymous SNV	P4HTM:NM_177938:exon6:c.G953A:p.R318Q	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.966	D	0.000	D	0.992	D	2.41	M	0.29	T	-0.138	T	0.411	T	0.854	5.196	33	5.29	2.491	7.596	19.017	0.300	0.0274567051725	.	.	8.259e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs775391993	1.095e-05	1.163e-05	2.723e-06	1.926e-05	0.0002	6.48e-06	5.25e-06	9.791e-05	7.838e-05	0	0	3.827e-05	0	0	0	8.993e-07	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.39097	T	0.03	0.54159	D	0.995	0.90584	D	0.794	0.71341	P	0.000001	0.84330	D	0.056420	0.992235	0.41590	D	2.585	0.75554	M	0.29	0.58897	T	-2.59	0.60188	D	0.912	0.91391	-0.1375	0.79226	T	0.411	0.75964	T	10	0.7952781	0.79014	D	0.027457	0.50267	D	0.300	0.62068	0.651	0.78858	0.72585821836	0.72343	0.7874511338284829	0.78697	0.355098685327	0.37273	0.534244120121	0.43632	T	0.22458	0.58905	T	0.104855	0.64812	D	0.115494	0.77935	D	0.964865148067474	0.67089	D	0.952605	0.81930	D	0.37138867	0.58687	0.26345894	0.52152	0.37138867	0.58687	0.26345894	0.52151	-7.774	0.59520	D	0.4062981320398548	0.49734	0.095	0.35643	B	.;.	.;.	5.292843	0.88862	29.8	0.99940902169632528	0.99797	0.94136	0.60221	D	AEFDGBCI	0.919020	0.88892	D	0.801152745674139	0.86178	8.802866	0.770141600165602	0.87653	9.296797	0.9999999999982	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	5.29	5.29	0.74430	7.710000	0.83619	7.654000	0.63860	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	19.017	0.92876	0	0.99858	Oxoglutarate/iron-dependent dioxygenase|Oxoglutarate/iron-dependent dioxygenase|Prolyl 4-hydroxylase, alpha subunit;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1406.98	33	chr3	49004926	.	G	A	1406.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=824;ExcessHet=0.0000;FS=0.727;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=-2.620e-01;SOR=0.829	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1421	20	0	1	0
chr3	49016632	49016632	T	C	exonic	DALRD3	.	nonsynonymous SNV	DALRD3:NM_001009996:exon7:c.A1043G:p.H348R	.	.	424	1097	0	1	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.006	B	0.006	B	0.001	N	0.999	N	1.61	L	0.97	T	-1.041	T	0.075	T	0.105	0.476	6.585	0.938	0.015	0.175	5.021	0.020	0.0119162365192	7.7e-05	.	8.839e-06	0	0	0	0	1.549e-05	0	0	6.5e-06	1	154602	rs372925729	6.272e-06	6.156e-06	8.284e-06	4.221e-06	0.0004	2.95e-06	2.14e-06	6.226e-05	2.571e-05	0	0	0	0	0	0.0004	3.645e-06	1.691e-05	2.444e-05	6.571e-06	6.567e-06	0	1.345e-05	6.544e-05	0	0	.	.	0	0	6.544e-05	0	0	0	0	0	0	0	0.13	0.30656	T	0.159	0.35710	T	0.002	0.13644	B	0.006	0.12133	B	0.000787	0.41772	N	0.247838	0.99908	0.21650	N	1.63	0.41750	L	0.95	0.43672	T	-2.85	0.62976	D	0.208	0.23125	-1.0411	0.16981	T	0.075	0.30117	T	10	0.05476886	0.05883	T	0.011916	0.30017	T	0.020	0.03691	.	.	0.222439326576	0.21863	0.2880071393449389	0.28713	0.219170569636	0.24457	0.363842248917	0.19944	T	0.064459	0.41501	T	-0.266127	0.12191	T	-0.620049	0.11182	T	0.060378590592364	0.07229	T	0.645735	0.25721	T	0.12000557	0.28247	0.120408945	0.29058	0.12000557	0.28247	0.120408945	0.29057	-5.875	0.50945	T	.	.	0.096	0.15385	B	.;.;.;.	.;.;.;.	1.084016	0.14671	11.23	0.79378501804716306	0.12714	0.31754	0.24417	N	AEFDGBHCI	0.144795	0.26785	N	-0.862437381965177	0.11746	0.5685227	-0.894021394274965	0.12235	0.6281724	0.999997306540112	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.81	0.938	0.18625	0.049000	0.13983	0.153000	0.15315	0.665000	0.62972	0.036000	0.20778	0.021000	0.20819	0.612000	0.31691	0.0:0.2479:0.1458:0.6062	5.021	0.13700	0	0.99858	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1398.98	49	chr3	49016632	.	T	C	1398.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.138e+00;DP=972;ExcessHet=0.0000;FS=0.611;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.33;ReadPosRankSum=-1.497e+00;SOR=0.751	GT:AD:DP:GQ:PL	0/1:91,59:150:99:1413,0,2529	20	0	1	0
chr3	49099511	49099511	G	A	exonic	QARS1	.	nonsynonymous SNV	QARS1:NM_001272073:exon16:c.C1492T:p.R498W	.	YES	436	1085	1	0	0	1	0.000460617	0.9919	0.844	500312	Diffuse_cerebral_and_cerebellar_atrophy_-_intractable_seizures_-_progressive_microcephaly_syndrome|not_provided	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760,Orphanet:404437|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.992	D	0.000	D	1.000	D	1.64	L	1.84	T	-1.007	T	0.127	T	0.775	3.987	20.4	4.54	2.770	4.242	13.668	0.227	.	.	0.00299521	0.0013	9.61e-05	0	0.0001	0	0	0	0.0093	0.0011255	174	154602	rs553194272	0.0005	0.0005	0.0003	0.0007	0.0082	0.0005	0.0005	0.0077	0.0075	2.987e-05	4.472e-05	0	5.038e-05	0	0	8.993e-06	0.0005	0.0082	0.0003	0.0003	0.0002	0.0003	0.0083	0.0002	0.0002	0.0063	0.0055	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0083	0.006	0.61437	D	0.01	0.69154	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.044597	0.99999	0.58761	D	1.705	0.44259	L	1.84	0.24656	T	-4.07	0.76822	D	0.865	0.88356	-1.0067	0.27943	T	0.127	0.43401	T	10	0.014571607	0.00306	T	.	.	.	0.227	0.52620	.	.	0.62543842953	0.62239	0.8331987719652475	0.83278	1.05892359154	0.76413	0.815172672272	0.84286	D	0.710045	0.91722	D	-0.275067	0.11199	T	-0.161494	0.58218	T	0.0841564782459829	0.10509	T	0.995834	0.98556	D	0.633909	0.74507	0.36900297	0.62179	0.62762743	0.74172	0.3628885	0.61685	-8.349	0.63825	D	.	.	0.221	0.47481	B	.;.;.;.	.;.;.;.	5.649312	0.92799	33	0.99899131172456357	0.97124	0.88858	0.48992	D	AEFBCI	0.856393	0.77362	D	0.687829418657261	0.78835	6.952282	0.679437843583526	0.80822	7.384667	0.999452224493582	0.39788	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.52	4.54	0.55220	4.268000	0.58681	4.228000	0.42634	-0.126000	0.13398	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:0.7189:0.2811	13.668	0.61883	0	0.99858	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain;Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain;.;Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2802.98	34	chr3	49099511	.	G	A	2802.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.400e-02;DP=933;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.07;ReadPosRankSum=2.25;SOR=0.732	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1342	20	0	1	0
chr3	49115902	49115902	G	A	exonic	USP19	.	nonsynonymous SNV	USP19:NM_001351102:exon10:c.C1166T:p.T389I	.	.	422	1094	6	0	0	6	0.00273473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.971	D	0.742	P	0.000	D	1.000	D	1.5	L	2.17	T	-0.983	T	0.157	T	0.404	4.253	22.2	6.17	2.941	9.319	20.474	0.168	0.00880763665752	0.0002	0.000199681	0.0003	0	0	0	0	1.546e-05	0	0.0027	0.0002458	38	154602	rs199766552	0.0002	0.0002	0.0001	0.0003	0.0025	0.0002	0.0002	0.0022	0.0021	0	0	0	0	0	0.0011	4.115e-05	0.0002	0.0025	0.0002	0.0002	0.0002	0.0002	0.0027	0.0001	9.24e-05	0.0016	0.0013	9.63e-05	0	6.539e-05	0	0	0	0	8.825e-05	0	0.0027	0.002	0.72154	D	0.01	0.69154	D	0.971	0.57185	D	0.724	0.55036	P	0.000292	0.46274	D	0.253749	0.999971	0.58761	D	0.695	0.17993	N	2.04	0.38073	T	-1.88	0.49846	N	0.53	0.58117	-0.9830	0.34305	T	0.157	0.48993	T	10	0.023425221	0.00612	T	0.008808	0.23245	T	0.168	0.42943	.	.	0.143184338766	0.13958	0.25448269893987546	0.25362	0.509059477772	0.49044	0.639447689056	0.58486	T	0.030859	0.22997	T	-0.358208	0.04232	T	-0.293794	0.45376	T	0.18055938799829	0.19270	T	0.941106	0.78031	D	0.13090499	0.30530	0.29620686	0.55652	0.13090499	0.30530	0.29620686	0.55651	-4.558	0.32347	T	.	.	0.161	0.51068	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.341309	0.66608	25.0	0.99881598818765638	0.95733	0.99571	0.97563	D	AEFDBI	0.884881	0.81493	D	0.74976070804033	0.82890	7.875722	0.82153586737776	0.91250	10.79215	0.99999999999995	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	9.446000	0.96756	11.856000	0.98202	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.474	0.99171	0	0.99858	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2697.98	34	chr3	49115902	.	G	A	2697.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.45;DP=908;ExcessHet=0.0000;FS=0.529;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.91;ReadPosRankSum=-7.000e-01;SOR=0.770	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1187	20	0	1	0
chr3	49124739	49124739	G	A	exonic	LAMB2	.	nonsynonymous SNV	LAMB2:NM_002292:exon21:c.C3071T:p.P1024L,	Nephrotic syndrome, type 5, with or without ocular abnormalities;Pierson syndrome, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	295402	LAMB2-related_infantile-onset_nephrotic_syndrome|Pierson_syndrome|not_specified	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199,Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049,Orphanet:2670|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.68	T	0.012	B	0.011	B	0.000	D	1.000	D	0.93	L	-0.05	T	-0.984	T	0.131	T	0.411	0.910	8.702	5.53	2.628	1.975	9.052	0.128	.	.	0.00319489	0.0014	0	0	0	0	1.502e-05	0	0.0101	0.0012419	192	154602	rs368506627	0.0006	0.0006	0.0003	0.0008	0.0094	0.0006	0.0005	0.0089	0.0087	2.987e-05	2.236e-05	0	0	0	0	2.698e-06	0.0006	0.0094	0.0003	0.0003	0.0002	0.0004	0.0091	0.0002	0.0002	0.0070	0.0062	2.404e-05	0	0	0	0	0	0	0	0	0.0091	0.711	0.04032	T	0.895	0.03091	T	0.012	0.16265	B	0.011	0.15521	B	0.000065	0.52346	D	0.165190	0.999938	0.51612	D	0.94	0.23649	L	-0.05	0.63403	T	-1.0	0.26422	N	0.266	0.30347	-0.9841	0.34045	T	0.131	0.44228	T	10	0.01257512	0.00270	T	.	.	.	0.128	0.35103	0.653	0.79068	0.45882554386	0.45509	0.3859293023183564	0.38507	0.181203500127	0.20376	0.471647948027	0.34907	T	0.225195	0.58986	T	-0.365939	0.03805	T	-0.290461	0.45724	T	0.0576705360473483	0.06797	T	0.69513	0.30474	T	0.09451252	0.22221	0.09022512	0.21146	0.06944576	0.15214	0.08895752	0.20772	-6.592	0.50992	T	.	.	0.081	0.08512	B	.;.	.;.	3.118183	0.42087	21.5	0.82820015082197318	0.14392	0.97568	0.75603	D	AEFGBI	0.757532	0.69646	D	-0.199456982159788	0.33157	1.877979	0.0143901021006469	0.40381	2.409072	0.999544067172778	0.40300	0.732398	0.92422	0	0.547309	0.14657	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	2.517000	0.45189	9.959000	0.82782	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0778:0.1493:0.7728:0.0	9.052	0.35545	0	0.99858	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2610.98	35	chr3	49124739	.	G	A	2610.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.47;DP=1290;ExcessHet=0.0000;FS=2.467;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=0.868;SOR=0.881	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr3	49163274	49163274	-	TGGCCC	exonic	CCDC71	.	nonframeshift insertion	CCDC71:NM_022903:exon2:c.934_935insGGGCCA:p.A311_K312insRA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1387286602	2.087e-06	2.077e-06	1.385e-06	2.795e-06	2.745e-06	5.6e-07	1.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.745e-06	0	0	6.572e-06	6.57e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2621.94	38	chr3	49163274	.	T	TTGGCCC	2621.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.780e-01;DP=1021;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.49;ReadPosRankSum=-1.280e+00;SOR=0.675	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr3	49163890	49163890	T	C	exonic	CCDC71	.	nonsynonymous SNV	CCDC71:NM_022903:exon2:c.A319G:p.M107V,	.	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.0	B	0.0	B	0.371	N	1.000	N	0	N	1.63	T	-1.032	T	0.030	T	0.055	0.166	4.892	-5.63	-0.748	-1.036	4.383	0.015	0.00325377277835	0.0003	0.000399361	0.0006	9.636e-05	0.0023	0	0	0.0007	0.0033	6.056e-05	0.0005498	85	154602	rs143414989	0.0003	0.0003	0.0003	0.0003	0.0055	0.0003	0.0003	0.0040	0.0035	0.0003	0.0016	0.0052	0	0	0.0055	0.0001	0.0009	0.0002	0.0003	0.0003	0.0003	0.0003	0.0005	0.0003	0.0002	0.0003	0.0002	2.406e-05	0	0.0005	0.0046	0	0	0.0102	0.0002	0.0028	0.0002	1.0	0.00964	T	0.872	0.03296	T	0.0	0.02946	B	0.0	0.01387	B	0.370556	0.04360	N	1.385010	1	0.08975	N	0.35	0.11930	N	1.63	0.28002	T	-0.11	0.08653	N	0.094	0.07398	-1.0325	0.19650	T	0.030	0.12848	T	10	0.0022620559	0.00033	T	0.003254	0.07177	T	0.015	0.02232	.	.	0.124217242631	0.12060	0.2156238693120016	0.21478	0.152547326704	0.17211	0.494650423527	0.38084	T	0.003564	0.02970	T	-0.66869	0.00056	T	-0.757931	0.03187	T	0.00784760214633818	0.00092	T	0.50435	0.15896	T	0.01888747	0.00412	0.037019808	0.03266	0.01888747	0.00412	0.037019808	0.03266	-2.114	0.03644	T	.	.	0.056	0.00496	B	.	.	-0.248041	0.02853	0.402	0.58741942598924879	0.06062	0.05463	0.11343	N	AEFDGBCI	0.057978	0.10842	N	-1.22022006493123	0.04707	0.2130268	-1.22720063189754	0.05476	0.2610589	0.999999757664015	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.9	-5.63	0.02276	-0.822000	0.04555	-0.948000	0.06824	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.990000	0.65344	0.1:0.3931:0.1022:0.4047	4.383	0.10736	0	0.99858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1990.98	38	chr3	49163890	.	T	C	1990.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.000e-02;DP=976;ExcessHet=0.0000;FS=1.192;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=-3.060e-01;SOR=0.833	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr3	49256446	49256446	G	A	exonic	IHO1	.	nonsynonymous SNV	IHO1:NM_001135197:exon8:c.G949A:p.E317K	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.002	B	0.006	B	0.828	N	1.000	N	0.695	N	0.81	T	-1.024	T	0.070	T	0.161	1.757	11.83	0.306	0.160	-0.041	3.493	0.007	.	.	0.00319489	0.0014	0	0	0	0	1.502e-05	0	0.0102	0.0012548	194	154602	rs375519630	0.0006	0.0006	0.0004	0.0008	0.0095	0.0006	0.0005	0.0090	0.0088	2.987e-05	2.236e-05	0	0	0	0	2.698e-06	0.0005	0.0095	0.0003	0.0003	0.0002	0.0004	0.0095	0.0002	0.0002	0.0073	0.0066	2.406e-05	0	0	0	0	0	0	0	0	0.0095	0.224	0.18691	T	0.365	0.16717	T	0.002	0.09854	B	0.006	0.12133	B	0.827878	0.09129	N	0.916709	1	0.08975	N	.	.	.	0.81	0.48460	T	-1.84	0.43149	N	0.073	0.04668	-1.0237	0.22508	T	0.070	0.28511	T	10	0.0040240884	0.00078	T	.	.	.	0.007	0.00512	0.39	0.41279	0.420544483464	0.41669	0.16926161613610496	0.16846	0.28819256759	0.31226	0.285793542862	0.08313	T	0.026537	0.19616	T	-0.552955	0.00280	T	-0.559096	0.16461	T	0.019145229216386	0.00621	T	0.650635	0.26150	T	0.11714797	0.27622	0.10006428	0.23914	0.11714797	0.27621	0.10006428	0.23913	-3.491	0.16306	T	.	.	0.086	0.10787	B	.;.;.	.;.;.	0.999871	0.13782	10.33	0.90797580317977866	0.20047	0.01443	0.04843	N	AEFDBI	0.038693	0.05512	N	-0.993132951540958	0.08749	0.4114544	-0.999874476645903	0.09788	0.4890393	0.370461386490041	0.19865	0.554377	0.28877	0	0.547309	0.14657	0	0.615948	0.41167	0	0.567892	0.33627	0	.	.	5.0	0.306	0.15053	0.101000	0.15088	1.522000	0.27099	0.618000	0.50648	0.000000	0.06391	0.016000	0.20520	0.788000	0.37229	0.4058:0.1991:0.3951:0.0	3.493	0.07208	1	0.99630	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1297.98	35	chr3	49256446	.	G	A	1297.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.21;DP=810;ExcessHet=0.0000;FS=4.540;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.82;ReadPosRankSum=-1.039e+00;SOR=0.851	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1183	20	0	1	0
chr3	49271371	49271371	C	T	exonic	C3orf62	.	nonsynonymous SNV	C3orf62:NM_198562:exon3:c.G613A:p.G205S,	.	.	434	1071	17	0	0	17	0.00787402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.051	B	0.067	B	0.079	N	1.000	N	0.625	N	0.79	T	-1.048	T	0.055	T	0.209	0.271	5.467	2.19	0.751	0.448	6.116	0.012	0.00498835903467	0.0034	0.00119808	0.0029	0.0008	0.0010	0	0.0014	0.0045	0.0022	0.0012	0.0030983	479	154602	rs150162031	0.0047	0.0047	0.0048	0.0047	0.0080	0.0046	0.0046	0.0061	0.0055	0.0011	0.0021	0.0004	0	0.0019	0.0080	0.0056	0.0047	0.0017	0.0031	0.0031	0.0033	0.0029	0.0050	0.0029	0.0028	0.0046	0.0044	0.0011	0.0011	0.0035	0.0003	0	0.0015	0.0068	0.0050	0.0038	0.0008	0.162	0.23541	T	0.297	0.20551	T	0.051	0.22415	B	0.067	0.27542	B	0.079406	0.20986	N	0.404485	0.999992	0.08975	N	1.445	0.36358	L	0.79	0.49068	T	-2.9	0.60827	D	0.115	0.10340	-1.0477	0.15045	T	0.055	0.23338	T	10	0.0040697157	0.00079	T	0.004988	0.12598	T	0.012	0.01476	.	.	0.289474373501	0.28556	0.12887484892142367	0.12812	0.0816453080078	0.09195	.	.	.	0.037492	0.24493	T	-0.52518	0.00410	T	-0.523435	0.19946	T	0.00917204199756853	0.00116	T	0.582642	0.21138	T	0.05229814	0.09735	0.06583787	0.13400	0.05229814	0.09734	0.06583787	0.13400	-2.482	0.05660	T	.	.	0.076	0.06069	B	.	.	0.841708	0.12137	8.685	0.55620872445190972	0.05380	0.03476	0.08635	N	AEFDGBI	0.033556	0.04004	N	-0.759683506032497	0.14371	0.7153474	-0.734477403460254	0.16104	0.8503523	0.725265385761274	0.22980	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.16	2.19	0.26890	0.477000	0.21906	2.023000	0.30218	0.469000	0.21855	0.314000	0.25450	0.990000	0.31317	0.130000	0.19568	0.0:0.6775:0.0:0.3225	6.116	0.19348	1	0.99630	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	870.98	37	chr3	49271371	.	C	T	870.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.340;DP=757;ExcessHet=0.0000;FS=4.860;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.20;ReadPosRankSum=0.674;SOR=1.306	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1286	20	0	1	0
chr3	49276802	49276802	A	G	exonic	C3orf62	.	nonsynonymous SNV	C3orf62:NM_198562:exon1:c.T71C:p.L24P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.001	N	1.000	D	1.04	L	-0.05	T	-0.469	T	0.297	T	0.964	3.862	19.62	4.79	2.002	4.818	10.638	0.574	0.0976643426568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	0.999	0.92359	D	0.001234	0.39743	N	0.000000	1	0.81001	D	0.695	0.17993	N	-0.05	0.63568	T	-5.92	0.90771	D	0.932	0.93723	-0.4689	0.69763	T	0.297	0.66801	T	10	0.7312801	0.74315	D	0.097664	0.76812	D	0.574	0.82742	0.513	0.61153	0.892291546352	0.89122	0.4564402211925589	0.45562	0.469151182485	0.46230	.	.	.	0.068569	0.42449	T	0.407582	0.90347	D	0.347687	0.90227	D	0.998931109905243	0.95630	D	0.670533	0.27914	T	0.9587947	0.97158	0.9549144	0.98689	0.9587947	0.97159	0.9549144	0.98689	-4.808	0.34685	T	.	.	0.995	0.97238	P	.;.	.;.	4.864225	0.79626	27.1	0.99891001499352317	0.96513	0.70662	0.34683	D	ALL	0.755165	0.69481	D	0.538289608295087	0.69370	5.347536	0.532664595835686	0.70202	5.470455	0.999999999272118	0.74766	0.242642	0.04205	2	0.484254	0.07192	0	0.391439	0.06340	0	0.249971	0.05119	0	.	.	4.79	4.79	0.60909	4.803000	0.62240	10.694000	0.83582	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	1.0:0.0:0.0:0.0	10.638	0.44765	1	0.99630	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	810.98	40	chr3	49276802	.	A	G	810.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.730e-01;DP=837;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.22;ReadPosRankSum=0.933;SOR=0.703	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr3	49292593	49292593	T	C	exonic	USP4	.	nonsynonymous SNV	USP4:NM_199443:exon14:c.A1748G:p.Y583C	.	.	.	.	.	.	.	.	.	.	.	734152	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.686	P	0.443	B	0.000	D	1.000	D	2.93	M	2.02	T	-1.017	T	0.077	T	0.399	1.067	9.359	4.26	0.974	2.573	6.339	0.187	0.0209759251913	0.0016	0.00239617	0.0009	0.0089	0.0012	0	0	0	0	0	0.0005757	89	154602	rs149131437	0.0002	0.0002	0.0002	0.0002	0.0062	0.0002	0.0002	0.0055	0.0052	0.0062	0.0004	0	0	0	0.0009	2.824e-05	0.0005	0	0.0018	0.0018	0.0019	0.0017	0.0063	0.0016	0.0015	0.0057	0.0054	0.0063	0	0.0005	0	0	0	0	1.47e-05	0.0009	0	0.01	0.56456	D	0.029	0.58613	D	0.686	0.41548	P	0.315	0.42079	B	0.000004	0.62929	D	0.109441	0.999882	0.50402	D	3.345	0.91022	M	1.88	0.23884	T	-8.15	0.97008	D	0.482	0.52208	-1.0170	0.24690	T	0.077	0.30706	T	10	0.012220681	0.00264	T	0.020976	0.43675	T	0.187	0.46274	.	.	0.699407080317	0.69680	0.6423895355781974	0.64173	0.347770780837	0.36658	0.685680091381	0.65085	T	0.274684	0.64719	T	-0.387397	0.02796	T	-0.325799	0.41935	T	0.13684565505225	0.16000	T	0.914409	0.69449	D	0.7707136	0.82091	0.7562231	0.85593	0.7707136	0.82092	0.7562231	0.85594	-10.166	0.75407	D	.	.	0.750	0.77878	P	.;.	.;.	3.726297	0.53274	23.3	0.98357840545958941	0.40608	0.91059	0.52779	D	AEFDBI	0.175176	0.30234	N	0.120337777995073	0.47412	2.967295	0.100701357467852	0.44585	2.73741	0.844612683459978	0.24930	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.44	4.26	0.49832	2.586000	0.45785	4.201000	0.42469	0.661000	0.55757	0.995000	0.38783	1.000000	0.68203	0.695000	0.33988	0.1429:0.078:0.0:0.7791	6.339	0.20517	1	0.99630	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1092.98	40	chr3	49292593	.	T	C	1092.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.56;DP=893;ExcessHet=0.0000;FS=0.716;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.67;ReadPosRankSum=1.72;SOR=0.599	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr3	49302400	49302400	T	C	exonic	USP4	.	nonsynonymous SNV	USP4:NM_199443:exon9:c.A1130G:p.N377S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.0	B	0.001	B	0.000	D	1.000	D	1.205	L	4.2	T	-0.949	T	0.010	T	0.02	2.370	13.88	4.42	0.946	2.862	10.494	0.188	0.00741437018486	0.0024	0.000798722	0.0017	0.0006	0.0004	0	0.0009	0.0026	0	0.0005	0.0016753	259	154602	rs61760236	0.0029	0.0029	0.0030	0.0027	0.0034	0.0028	0.0028	0.0033	0.0032	0.0004	0.0006	0.0049	5.038e-05	0.0010	0.0002	0.0034	0.0027	0.0005	0.0017	0.0017	0.0019	0.0016	0.0029	0.0016	0.0015	0.0025	0.0024	0.0006	0	0.0004	0.0046	0.0002	0.0010	0	0.0029	0.0024	0.0012	0.113	0.28772	T	0.14	0.33554	T	0.0	0.02946	B	0.001	0.04355	B	0.000003	0.62929	D	0.137094	0.999351	0.46766	D	1.525	0.38595	L	4.2	0.02689	T	-1.19	0.32991	N	0.109	0.09490	-0.9489	0.41160	T	0.010	0.03673	T	10	0.010833532	0.00239	T	0.007414	0.19657	T	0.188	0.46444	.	.	0.627837047935	0.62479	0.21543957155777915	0.21459	0.13872184068	0.15641	0.282271385193	0.07811	T	0.070319	0.33931	T	-0.696476	0.00038	T	-0.776581	0.02558	T	0.00725335113823611	0.00083	T	0.780122	0.42156	T	0.11124601	0.26289	0.14050235	0.33490	0.11124601	0.26288	0.14050235	0.33489	-5.026	0.37121	T	.	.	0.058	0.01577	B	.;.	.;.	2.141761	0.27274	17.41	0.98689296671829341	0.44738	0.94637	0.61818	D	AEFBI	0.312691	0.41805	N	-0.172968809401075	0.34264	1.953588	-0.00609792394453823	0.39440	2.338434	0.998294531879183	0.36710	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.58	4.42	0.52775	2.328000	0.43526	1.495000	0.26916	-0.112000	0.15009	0.949000	0.33028	0.972000	0.29809	0.987000	0.62547	0.0:0.0771:0.0:0.9229	10.494	0.43955	1	0.99630	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	801.98	39	chr3	49302400	.	T	C	801.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.68;DP=776;ExcessHet=0.0000;FS=3.348;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.30;ReadPosRankSum=-1.846e+00;SOR=1.121	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr3	49325031	49325031	C	T	exonic	USP4	.	nonsynonymous SNV	USP4:NM_001251877:exon5:c.G496A:p.E166K	.	.	427	1094	0	1	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	1.0	D	0.967	D	0.000	D	1.000	D	2.215	M	2.2	T	-0.895	T	0.185	T	0.854	3.755	19.07	5.32	2.502	7.717	17.582	0.241	0.016694402702	7.7e-05	.	4.965e-05	0	0	0	0	9.018e-05	0	0	4.53e-05	7	154602	rs375855632	4.724e-05	4.788e-05	5.313e-05	4.128e-05	0.0003	3.796e-05	3.478e-05	6.117e-05	3.838e-05	0	2.251e-05	0	0	0	0.0003	5.397e-05	6.629e-05	2.319e-05	3.945e-05	3.941e-05	3.856e-05	4.039e-05	6.556e-05	1.716e-05	1.13e-05	1.972e-05	1.124e-05	2.416e-05	0	6.556e-05	0	0	0	0	5.88e-05	0	0	0.232	0.36509	T	0.838	0.59159	T	1.0	0.90584	D	0.967	0.71530	D	0.000018	0.62929	D	0.149728	1	0.81001	D	2.875	0.83380	M	2.08	0.29342	T	-2.37	0.62976	N	0.786	0.78262	-0.8952	0.48465	T	0.185	0.53451	T	10	0.6692857	0.70615	D	0.016694	0.38065	T	0.241	0.54641	.	.	0.736438693648	0.73408	0.8182426573601649	0.81781	0.36859166617	0.38407	0.880185306072	0.93985	D	0.172217	0.52063	T	0.0773496	0.61730	D	0.0296967	0.72258	D	0.899803578853607	0.55218	D	0.988501	0.96904	D	0.37045395	0.58618	0.20828098	0.45123	0.37045395	0.58619	0.20828098	0.45122	-10.55	0.78077	D	.	.	0.520	0.68896	A	.;.;.;.	.;.;.;.	4.735734	0.76327	26.5	0.9986753646139872	0.94547	0.98989	0.89614	D	AEFDGBI	0.910945	0.86955	D	0.631039521783485	0.75147	6.254804	0.616508547350819	0.76138	6.436128	0.999999999999781	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	7.905000	0.86479	7.701000	0.66289	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:1.0:0.0:0.0	17.582	0.87870	1	0.99630	Ubiquitin-like domain, USP-type;Ubiquitin-like domain, USP-type;.;Ubiquitin-like domain, USP-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	807.98	34	chr3	49325031	.	C	T	807.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.268;DP=783;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.38;ReadPosRankSum=-1.790e-01;SOR=0.725	GT:AD:DP:GQ:PL	0/1:38,33:71:99:822,0,976	20	0	1	0
chr3	49357432	49357432	G	A	exonic	GPX1	.	nonsynonymous SNV	GPX1:NM_001329455:exon2:c.C430T:p.P144S,	Hemolytic anemia due to glutathione peroxidase deficiency, Autosomal recessive	.	2	1514	5	0	1	6	0.00164853	.	.	2367512	Gluthathione_peroxidase_deficiency|not_specified	MONDO:MONDO:0013601,MedGen:C0398747,OMIM:614164|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.055	B	0.005	B	0.742	N	0.876	D	0.83	L	3.84	T	-0.896	T	0.007	T	0.186	0.559	7.024	-1.95	-0.031	0.539	8.102	0.035	.	.	.	0.0001	0.0001	0	0	0	0.0001	0	0.0003	3.84e-05	1	26028	rs777715410	0.0001	0.0001	9.263e-05	0.0001	0.0011	9.61e-05	9.089e-05	0.0005	0.0003	8.963e-05	0.0003	0.0002	0	0.0001	0.0011	8.727e-05	0.0002	0.0002	0.0003	0.0003	0.0002	0.0003	0.0015	0.0002	0.0002	0.0010	0.0009	7.218e-05	0	0.0015	0.0003	0	9.423e-05	0.0034	0.0001	0	0	0.434	0.09430	T	0.984	0.02471	T	0.055	0.22733	B	0.005	0.11217	B	0.741591	0.09772	N	0.877132	0.876088	0.35657	D	0.415	0.12483	N	3.84	0.03675	T	-0.21	0.10308	N	0.133	0.12913	-0.8956	0.48427	T	0.007	0.02360	T	10	0.027851105	0.00925	T	.	.	.	0.035	0.08770	0.31	0.28289	0.0846915920261	0.08053	.	.	0.652490442327	0.58438	0.310011893511	0.11908	T	0.015677	0.13101	T	-0.461966	0.00956	T	-0.603799	0.12494	T	0.00947188779281449	0.00122	T	0.689031	0.35642	T	0.1167374	0.27529	0.061179016	0.11772	0.1167374	0.27529	0.061179016	0.11772	.	.	.	.	.	0.107	0.22717	B	.;.;.	.;.;.	2.120886	0.26994	17.31	0.89409051306305587	0.18771	0.36175	0.25473	N	AEFGBCI	0.564856	0.57148	D	-0.963104113492769	0.09401	0.4447446	-0.917437660833921	0.11683	0.5966925	0.999999776486528	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.638787	0.57140	0	.	.	5.1	-1.95	0.07135	0.819000	0.26965	2.430000	0.32726	0.672000	0.70159	0.627000	0.27974	1.000000	0.68203	0.975000	0.56047	0.0749:0.5016:0.3245:0.099	8.102	0.30026	1	0.99630	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	939.98	42	chr3	49357432	.	G	A	939.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.013;DP=924;ExcessHet=0.0000;FS=1.018;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=48.20;MQRankSum=1.33;QD=14.03;ReadPosRankSum=-1.031e+00;SOR=0.919	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,120,1800	20	0	1	0
chr3	49358244	49358246	GCC	-	exonic	GPX1	.	nonframeshift deletion	GPX1:NM_001329455:exon1:c.33_35del:p.A13del,	Hemolytic anemia due to glutathione peroxidase deficiency, Autosomal recessive	.	33	116	273	343	757	1716	0.805206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	62247.2	96	chr3	49358240	.	GGCCGCC	G,GGCC	62247.2	.	AC=20,13;AF=0.476,0.310;AN=42;BaseQRankSum=0.442;DP=2322;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=20,13;MLEAF=0.476,0.310;MQ=56.82;MQRankSum=-5.003e+00;QD=32.09;ReadPosRankSum=-2.300e-01;SOR=0.702	GT:AD:DP:GQ:PL	1/2:0,53,55:108:99:4459,2257,2190,2212,0,2057	0	4	6	0
chr3	49419325	49419325	C	T	exonic	AMT	.	nonsynonymous SNV	AMT:NM_001164710:exon5:c.G499A:p.E167K	Glycine encephalopathy, Autosomal recessive	.	0	1424	94	4	0	102	0.0345763	.	.	452827	not_provided|Non-ketotic_hyperglycinemia|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.83	T	0.037	B	0.063	B	0.017	N	0.921	D	0.705	N	-1.73	D	-0.999	T	0.063	T	0.694	2.566	14.54	3.64	1.300	2.511	9.263	0.077	.	0.0065	0.0071885	0.0110	0.0012	0.0059	0	0.0136	0.0125	0.0203	0.0191	0.0104591	1617	154602	rs116192290	0.0089	0.0089	0.0083	0.0095	0.0270	0.0087	0.0087	0.0236	0.0223	0.0012	0.0066	0.0194	7.557e-05	0.0116	0.0270	0.0082	0.0102	0.0182	0.0079	0.0079	0.0078	0.0081	0.0174	0.0075	0.0074	0.0144	0.0133	0.0018	0.0219	0.0074	0.0170	0	0.0131	0.0272	0.0099	0.0137	0.0174	0.661	0.13262	T	0.8	0.04142	T	0.019	0.17989	B	0.023	0.19966	B	0.016838	0.27876	N	0.416320	0.655655	0.36667	D	0.19	0.09125	N	-1.73	0.83327	D	-1.46	0.37375	N	0.179	0.30118	-0.9990	0.30199	T	0.063	0.26136	T	10	0.008803636	0.00199	T	.	.	.	0.437	0.74164	.	.	.	.	0.6177274581730304	0.61705	0.234613189541	0.26000	0.587630629539	0.51160	T	0.595225	0.86947	D	-0.199244	0.20915	T	-0.0440396	0.67427	D	0.00989505753933275	0.00131	T	0.948205	0.80130	D	0.3693229	0.58535	0.14150867	0.33697	0.3693229	0.58535	0.14150867	0.33696	-6.095	0.48405	T	0.12287218848646665	0.11830	0.133	0.35034	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.845707	0.37553	20.5	0.99527904960598856	0.69653	0.64042	0.32280	D	AEFDGBCI	0.282641	0.39593	N	0.0923306099819885	0.46106	2.856147	0.178970971326757	0.48694	3.082081	0.999999700014168	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.508809	0.08732	0	.	.	5.43	3.64	0.40864	2.567000	0.45619	3.305000	0.37415	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.827:0.0:0.173	9.263	0.36786	1	0.99630	Aminomethyltransferase, folate-binding domain;.;.;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;.;.	.	.	.	.	rs116192290	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1485.98	120	chr3	49419325	.	C	T	1485.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.41;DP=809;ExcessHet=0.0000;FS=3.539;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=0.145;SOR=0.424	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1163	20	0	1	0
chr3	49510792	49510792	G	C	exonic	DAG1	.	nonsynonymous SNV	DAG1:NM_001177639:exon2:c.G258C:p.L86F	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, Autosomal recessive	.	0	1497	25	0	0	25	0.00828089	.	.	192381	Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A9|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2P|not_specified|not_provided|DAG1-related_disorder	MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538,Orphanet:370997,Orphanet:899|MONDO:MONDO:0013440,MedGen:C4511963,OMIM:613818,Orphanet:280333|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.21	T	0.001	B	0.001	B	0.010	N	0.792	D	0.41	N	0.46	T	0.320	D	0.728	D	0.297	2.067	12.87	4.3	0.897	1.228	5.342	0.225	0.0345599240663	0.0034	0.00119808	0.0029	0.0008	0.0011	0	0.0014	0.0045	0.0022	0.0012	0.0030853	477	154602	rs145403829	0.0047	0.0047	0.0048	0.0047	0.0080	0.0046	0.0046	0.0061	0.0055	0.0011	0.0021	0.0004	2.519e-05	0.0019	0.0080	0.0056	0.0048	0.0017	0.0031	0.0031	0.0033	0.0029	0.0051	0.0029	0.0028	0.0046	0.0045	0.0010	0.0011	0.0035	0.0003	0	0.0014	0.0068	0.0051	0.0038	0.0008	0.236	0.20381	T	0.148	0.92824	T	0.001	0.07471	B	0.001	0.04355	B	0.009542	0.30309	N	0.282211	0.79151	0.34393	D	1.01	0.25309	L	-4.99	0.98507	D	-0.56	0.37759	N	0.148	0.15187	0.320	0.87869	D	0.728	0.90705	D	10	0.0061346292	0.00226	T	0.03456	0.55756	D	0.225	0.52323	0.718	0.85319	0.598950722394	0.59575	0.5055072432473939	0.50472	0.297566637379	0.32142	0.339848846197	0.16416	T	0.355552	0.72254	T	-0.249766	0.14126	T	-0.127822	0.61155	T	0.00495819392435207	0.00053	T	0.732227	0.47282	T	0.037615046	0.04856	0.042526096	0.05086	0.037615046	0.04856	0.042526096	0.05086	-5.321	0.40150	T	0.12676215551597242	0.12860	0.127	0.29283	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	1.319415	0.17233	13.04	0.97940415029161143	0.37028	0.75762	0.37112	D	AEFBI	0.262267	0.38004	N	-0.531824808102353	0.21057	1.114735	-0.322680728659568	0.27368	1.518104	0.00105108255013359	0.08159	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	4.3	0.50540	1.018000	0.29604	2.259000	0.31747	-0.116000	0.14526	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.7593:0.0:0.0858:0.1549	5.342	0.15295	1	0.99630	Dystroglycan-type cadherin-like;.;Dystroglycan-type cadherin-like;Dystroglycan-type cadherin-like;Dystroglycan-type cadherin-like;Dystroglycan-type cadherin-like;Dystroglycan-type cadherin-like;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	488.98	42	chr3	49510792	.	G	C	488.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.866;DP=997;ExcessHet=0.0000;FS=5.623;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.89;ReadPosRankSum=0.677;SOR=1.599	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	20	0	1	0
chr3	49531406	49531406	A	G	exonic	DAG1	.	nonsynonymous SNV	DAG1:NM_001177639:exon3:c.A895G:p.I299V	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.128	B	0.099	B	0.000	D	1.000	D	0.64	N	-1.05	T	-0.693	T	0.278	T	0.451	2.144	13.13	5.9	2.255	9.331	15.314	0.260	0.00720697947761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.516	0.07354	T	0.362	0.16865	T	0.128	0.27003	B	0.099	0.30579	B	0.000000	0.84330	D	0.044737	0.999999	0.58761	D	1.78	0.46185	L	-1.05	0.76690	T	0.2	0.04861	N	0.228	0.26111	-0.6931	0.60763	T	0.278	0.64977	T	10	0.24316385	0.41525	T	0.007207	0.19116	T	0.260	0.57221	0.603	0.73466	0.585711994654	0.58244	0.5763578935418062	0.57564	0.340128767297	0.35956	0.41422110796	0.27040	T	0.322071	0.69311	T	0.0405564	0.57119	T	-0.17952	0.56567	T	0.747189939022064	0.43129	D	0.974802	0.91047	D	0.09092799	0.21290	0.109521486	0.26397	0.09092799	0.21290	0.109521486	0.26396	-3.126	0.11597	T	0.18836833540800485	0.24598	0.130	0.27762	B	.;.;.;.;.;.	.;.;.;.;.;.	2.775108	0.36435	20.2	0.98905322902983706	0.48272	0.97411	0.74579	D	AEFDBCI	0.967513	0.98998	D	0.0588677162102778	0.44552	2.727111	0.283290708691222	0.54563	3.620957	0.99999999751571	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	7.452000	0.79743	11.197000	0.88883	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	15.314	0.73764	1	0.99630	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1788.98	35	chr3	49531406	.	A	G	1788.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.434e+00;DP=904;ExcessHet=0.0000;FS=2.206;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=1.23;SOR=0.525	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,120,1800	20	0	1	0
chr3	49531976	49531976	C	T	exonic	DAG1	.	nonsynonymous SNV	DAG1:NM_001177639:exon3:c.C1465T:p.R489C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	P	0.118	B	0.008	N	0.995	D	1.1	L	0.85	T	-1.048	T	0.096	T	0.706	2.299	13.65	5.76	2.728	2.545	16.887	0.120	0.0100541318785	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1227438701	6.84e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	6.571e-06	6.566e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.01	0.56456	D	0.096	0.39340	T	0.66	0.40908	P	0.118	0.32088	B	0.008203	0.30959	N	0.323222	0.995114	0.42550	D	1.245	0.31408	L	0.85	0.47130	T	-1.23	0.31170	N	0.326	0.37405	-1.0483	0.14875	T	0.096	0.36212	T	9	0.3049006	0.48011	T	0.010054	0.26124	T	0.120	0.33359	0.607	0.73945	0.736136907216	0.73378	0.6331347669512689	0.63247	0.778182672044	0.65140	0.33805218339	0.16146	T	0.386316	0.74751	T	0.0274162	0.55379	T	-0.198395	0.54798	T	0.780014634132385	0.45051	D	0.947705	0.79824	D	0.09728915	0.22930	0.06168053	0.11947	0.09728915	0.22930	0.06168053	0.11947	-7.651	0.58666	D	.	.	0.227	0.45942	B	.;.;.;.;.;.	.;.;.;.;.;.	3.960607	0.58084	23.9	0.99791732321950588	0.87750	0.90375	0.51501	D	AEFDBCI	0.521175	0.54572	D	0.189402583367697	0.50690	3.256684	0.323541493492102	0.56927	3.85685	0.996526819513342	0.34806	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.76	5.76	0.90726	3.557000	0.53487	7.661000	0.64234	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.946000	0.48989	0.0:1.0:0.0:0.0	16.887	0.85946	1	0.99630	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2532.98	35	chr3	49531976	.	C	T	2532.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.836;DP=990;ExcessHet=0.0000;FS=0.604;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.03;ReadPosRankSum=-7.320e-01;SOR=0.624	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,120,1800	20	0	1	0
chr3	49643148	49643148	T	C	exonic	BSN	.	nonsynonymous SNV	BSN:NM_003458:exon3:c.T1514C:p.V505A,	.	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.989	D	0.856	P	0.002	N	0.586	N	2.075	M	-0.97	T	-0.285	T	0.434	T	0.539	2.803	15.33	5.16	2.068	1.382	10.534	0.474	0.035044582194	7.7e-05	0.000798722	0.0005	0.0001	0	0	0	6.283e-05	0.0036	0.0037	0.0004398	68	154602	rs369804511	0.0002	0.0002	0.0001	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	0	0	0	0	0	0.0025	3.071e-05	0.0003	0.0028	0.0002	0.0002	9.003e-05	0.0003	0.0044	0.0001	0.0001	0.0029	0.0025	2.409e-05	0	0	0	0	0	0.0034	7.354e-05	0	0.0044	0.09	0.31987	T	0.296	0.20615	T	0.989	0.62824	D	0.856	0.61001	P	0.002221	0.36970	N	0.224310	0.585904	0.31061	N	1.7	0.43825	L	-0.97	0.75670	T	-1.19	0.30346	N	0.403	0.44379	-0.2852	0.75399	T	0.434	0.77478	T	10	0.015106589	0.00317	T	0.035045	0.56085	D	0.474	0.76685	.	.	0.698943199084	0.69634	0.257177841865724	0.25631	0.332449980927	0.35288	0.71161210537	0.68827	T	0.179829	0.53096	T	-0.313038	0.07483	T	-0.226425	0.52117	T	0.0637317938212484	0.07742	T	0.691931	0.30130	T	0.0611401	0.12627	0.08068026	0.18272	0.0611401	0.12627	0.08068026	0.18272	-2.904	0.09183	T	.	.	0.133	0.28750	B	.	.	3.621474	0.51253	23.1	0.9957249301295702	0.72501	0.80659	0.40240	D	AEFGBHCI	0.482729	0.52347	N	0.350403888675585	0.58761	4.050407	0.345959696740512	0.58265	3.996038	0.999984608598221	0.51787	0.533608	0.22052	0	0.547309	0.14657	0	0.685742	0.62368	0	0.542086	0.14980	0	.	.	5.16	5.16	0.70563	0.780000	0.26421	4.194000	0.42423	0.665000	0.62972	0.465000	0.26683	1.000000	0.68203	0.993000	0.69303	0.1443:0.0:0.0:0.8557	10.534	0.44180	1	0.99630	Zinc finger, piccolo-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	674.98	33	chr3	49643148	.	T	C	674.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.086e+00;DP=722;ExcessHet=0.0000;FS=1.433;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.70;ReadPosRankSum=-2.010e-01;SOR=0.446	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1187	20	0	1	0
chr3	49650850	49650850	C	T	exonic	BSN	.	nonsynonymous SNV	BSN:NM_003458:exon4:c.C1757T:p.A586V,	.	.	403	1118	1	0	0	1	0.000447027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.018	B	0.008	B	0.081	U	0.639	N	0.895	L	2.25	T	-1.097	T	0.032	T	0.194	3.255	16.92	4.61	2.411	0.809	12.805	0.031	.	.	0.00339457	0.0014	9.731e-05	0	0	0	1.507e-05	0	0.0100	0.0012354	191	154602	rs369197829	0.0006	0.0006	0.0003	0.0008	0.0091	0.0005	0.0005	0.0085	0.0083	2.987e-05	2.237e-05	0	0	0	0	2.698e-06	0.0005	0.0091	0.0003	0.0003	0.0002	0.0004	0.0093	0.0002	0.0002	0.0072	0.0064	4.808e-05	0	0	0	0	0	0	0	0	0.0093	0.103	0.30097	T	0.037	0.51737	D	0.018	0.17786	B	0.008	0.13708	B	0.080876	0.20899	U	0.352960	0.638654	0.30635	N	1.79	0.46772	L	2.25	0.17761	T	-0.33	0.12472	N	0.307	0.34659	-1.0966	0.04528	T	0.032	0.13854	T	10	0.0046046376	0.00096	T	.	.	.	0.031	0.07369	0.181	0.08877	0.298199939746	0.29431	0.07227080199447544	0.07164	0.276604005322	0.30129	0.471768319607	0.34923	T	0.126508	0.45294	T	-0.55493	0.00272	T	-0.562361	0.16155	T	0.0400244835256793	0.03695	T	0.712729	0.32446	T	0.06521259	0.13914	0.077938735	0.17409	0.06521259	0.13914	0.077938735	0.17409	-6.174	0.47712	T	.	.	0.094	0.14339	B	.	.	3.282597	0.44983	22.0	0.99770313292724389	0.85834	0.84359	0.43441	D	AEFDBI	0.210642	0.33651	N	-0.190994974425263	0.33509	1.901835	-0.0208033479271851	0.38776	2.28945	0.999994641884426	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.61	4.61	0.56724	3.836000	0.55516	1.973000	0.29997	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:1.0:0.0:0.0	12.805	0.56992	1	0.99630	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2459.98	34	chr3	49650850	.	C	T	2459.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.568e+00;DP=910;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=-4.200e-01;SOR=0.673	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1245	20	0	1	0
chr3	49655087	49655087	C	A	exonic	BSN	.	nonsynonymous SNV	BSN:NM_003458:exon5:c.C5531A:p.A1844D,	.	.	416	1105	1	0	0	1	0.000452284	.	.	2261582	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.18	T	0.181	B	0.134	B	0.035	N	0.997	N	1.735	L	2.14	T	-1.048	T	0.052	T	0.219	-0.137	3.329	3.18	1.114	0.402	10.64	0.019	0.0091235650693	0.0002	.	7.589e-05	0.0007	8.694e-05	0	0	0	0	6.106e-05	5.82e-05	9	154602	rs150712047	2.191e-05	2.189e-05	2.725e-05	1.652e-05	0.0007	1.586e-05	1.357e-05	0.0005	0.0004	0.0007	2.237e-05	0	0	0	0	0	9.937e-05	0	0.0001	0.0001	0.0001	0.0001	0.0005	8.166e-05	6.722e-05	0.0003	0.0002	0.0005	0	0	0	0	0	0	0	0	0	0.095	0.31235	T	0.014	0.62352	D	0.181	0.29111	B	0.134	0.33146	B	0.035061	0.24690	N	0.435018	0.996716	0.22926	N	1.905	0.50856	L	2.14	0.19450	T	-2.1	0.47852	N	0.31	0.34981	-1.0485	0.14818	T	0.052	0.21921	T	10	0.06847793	0.09690	T	0.009124	0.23988	T	0.019	0.03383	.	.	0.117191471859	0.11215	0.6397062632840562	0.63905	0.412731529237	0.42005	0.498981773853	0.38686	T	0.270918	0.64321	T	-0.485824	0.00685	T	-0.581595	0.14403	T	0.0132756623731546	0.00237	T	0.653235	0.26349	T	0.15131667	0.34406	0.20656244	0.44875	0.15131667	0.34405	0.20656244	0.44874	-4.422	0.29853	T	.	.	0.136	0.29615	B	.	.	2.457623	0.31654	18.81	0.9165444579588431	0.20943	0.19427	0.20656	N	AEFDBHCI	0.202765	0.32933	N	-0.480178310723572	0.22731	1.215818	-0.478313793826385	0.22752	1.237349	0.985853603469466	0.30960	0.554377	0.28877	0	0.588066	0.40923	0	0.603688	0.36954	0	0.567892	0.33627	0	.	.	5.2	3.18	0.35615	1.335000	0.33444	1.350000	0.25801	-0.253000	0.07101	0.546000	0.27314	0.779000	0.26763	0.581000	0.30918	0.0:0.6649:0.2421:0.093	10.64	0.44780	1	0.99630	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1781.98	34	chr3	49655087	.	C	A	1781.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.132;DP=980;ExcessHet=0.0000;FS=1.291;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=0.095;SOR=0.833	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	20	0	1	0
chr3	49656218	49656218	G	A	exonic	BSN	.	nonsynonymous SNV	BSN:NM_003458:exon5:c.G6662A:p.R2221H,	.	.	423	1098	1	0	0	1	0.000455166	.	.	2881382	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.167	B	0.031	B	0.000	N	1.000	D	2.135	M	1.08	T	-0.975	T	0.120	T	0.442	2.500	14.32	4.65	1.341	7.890	12.833	0.220	0.0184866301862	0.0002	.	0.0001	0.0007	8.681e-05	0	0	6.072e-05	0	6.559e-05	9.06e-05	14	154602	rs149454072	4.115e-05	4.104e-05	5.184e-05	3.034e-05	0.0007	3.253e-05	2.927e-05	0.0005	0.0004	0.0007	2.245e-05	0	7.563e-05	0	0	2.072e-05	9.961e-05	2.333e-05	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0004	0.0003	0.0005	0	6.539e-05	0	0	0	0	7.348e-05	0	0	0.0	0.91255	D	0.007	0.69154	D	0.167	0.28604	B	0.031	0.21939	B	0.000001	0.84330	N	0.053948	0.999978	0.53665	D	2.33	0.66821	M	1.08	0.39401	T	-4.41	0.77391	D	0.589	0.60918	-0.9747	0.36191	T	0.120	0.41843	T	10	0.28780967	0.46363	T	0.018487	0.40571	T	0.220	0.51569	.	.	0.554237320764	0.55083	0.6847543604121539	0.68414	0.342242573836	0.36158	0.650620102882	0.60074	T	0.599788	0.87156	D	-0.277831	0.10900	T	-0.282828	0.46515	T	0.281272768974304	0.24225	T	0.867413	0.56831	D	0.56451374	0.70759	0.42792183	0.66522	0.56451374	0.70760	0.42792183	0.66522	-2.771	0.07919	T	.	.	0.101	0.17573	B	.	.	4.888453	0.80238	27.3	0.99653437687669888	0.77442	0.98019	0.78921	D	AEFDGBI	0.759502	0.69781	D	0.0243754272846263	0.42965	2.598876	0.15649144028288	0.47486	2.978166	0.999998809188195	0.74766	0.514905	0.20481	0	0.547309	0.14657	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	5.53	4.65	0.57626	8.010000	0.88153	7.558000	0.60417	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0759:0.0:0.9241:0.0	12.833	0.57141	1	0.99630	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3871.98	34	chr3	49656218	.	G	A	3871.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.582;DP=1108;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=-7.260e-01;SOR=0.716	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	20	0	1	0
chr3	49685734	49685734	T	G	splicing	MST1	NM_020998:exon11:c.1251-2A>C	.	.	.	.	396	1048	78	0	0	78	0.0358786	0.9999	0.908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.161	13.18	4.06	0.825	2.394	5.690	.	.	.	.	0.0033	0.0022	0.0048	0.0020	0.0040	0.0032	0.0022	0.0038	0.0011902	184	154602	rs9714011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0312953	0.47230	T	-0.28273	0.46524	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.318552	0.66070	24.9	0.82760893892845555	0.14361	0.84942	0.44038	D	AEFDBCI	.	.	.	0.550271141106862	0.70098	5.451985	0.329790380301468	0.57298	3.894969	0.999999223157914	0.74766	0.199473	0.04044	0	0.09434	0.02614	0	0.215285	0.04585	0	0.109499	0.03221	0	0.244363	0.32384	5.22	4.06	0.46572	2.893000	0.48331	7.791000	0.68894	-0.114000	0.14653	0.998000	0.41325	1.000000	0.68203	0.017000	0.10941	0.1492:0.0819:0.0:0.7689	5.690	0.17097	1	0.99630	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	253.15	61	chr3	49685734	.	T	G	253.15	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.840e-01;DP=1598;ExcessHet=0.1072;FS=18.777;InbreedingCoeff=-0.0516;MLEAC=2;MLEAF=0.048;MQ=58.46;MQRankSum=-1.625e+01;QD=0.42;ReadPosRankSum=-2.929e+00;SOR=2.861	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:64,0:64:99:.:.:0,104,1800	19	0	2	0
chr3	49686750	49686750	C	G	exonic	MST1	.	nonsynonymous SNV	MST1:NM_020998:exon7:c.G781C:p.E261Q,	.	.	405	1107	10	0	0	10	0.0044964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.629	P	0.579	P	0.289	N	1.000	D	1.745	L	-0.3	T	-0.530	T	0.371	T	0.618	3.660	18.60	5.75	2.725	4.664	19.952	0.197	0.0221806078997	.	.	0.0031	0.0060	0.0034	0.0037	0	0.0027	0.0041	0.0031	0.00073	19	26028	rs201944579	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0035	0.0002	0.0002	0.0005	0.0001	0.0001	0.0002	0.0002	9.895e-05	0	0.0005	0	0	9.99e-05	0	0.0002	0.0005	0.0002	0.487	0.08067	T	0.511	0.10785	T	0.575	0.38708	P	0.443	0.45803	B	0.288530	0.14811	N	0.531760	0.993125	0.81001	D	.	.	.	-0.3	0.67874	T	-0.54	0.16598	N	0.315	0.35514	-0.5302	0.67534	T	0.371	0.73016	T	10	0.02078408	0.00485	T	0.022181	0.45042	T	0.197	0.47942	.	.	0.801712144476	0.79986	0.5736695672780171	0.57295	0.763659519793	0.64390	0.596491217613	0.52408	T	.	.	.	0.0232016	0.54813	T	-0.204449	0.54224	T	0.0514656409417245	0.05755	T	0.593441	0.21910	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.31151	B	.	.	3.652228	0.51842	23.2	0.99617675938671457	0.75233	0.77796	0.38294	D	AEFBCI	0.664682	0.63376	D	0.408728035343709	0.61901	4.397673	0.486399716992331	0.67087	5.03744	0.99999999966497	0.74766	0.766844	0.99359	0	0.851219	0.99844	0	0.391439	0.06340	0	0.56751	0.32155	0	.	.	5.75	5.75	0.90390	3.091000	0.49896	7.583000	0.61020	0.598000	0.34611	0.989000	0.36753	1.000000	0.68203	0.958000	0.51230	0.0:1.0:0.0:0.0	19.952	0.97204	1	0.99630	Kringle|Kringle, conserved site|Kringle|Kringle|Kringle	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025	243.39	114	chr3	49686750	.	C	G	243.39	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.97;DP=2002;ExcessHet=0.0000;FS=57.994;InbreedingCoeff=-0.0410;MLEAC=1;MLEAF=0.025;MQ=49.56;MQRankSum=-5.023e+00;QD=2.80;ReadPosRankSum=-8.590e-01;SOR=3.187	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	19	0	1	1
chr3	49686764	49686764	T	C	exonic	MST1	.	nonsynonymous SNV	MST1:NM_020998:exon7:c.A767G:p.N256S,	.	.	405	1111	6	0	0	6	0.002693	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.97	D	0.684	P	0.021	N	1.000	D	3.62	H	-1.18	T	0.555	D	0.653	D	0.316	5.396	34	5.75	2.201	7.789	16.066	0.716	0.123556366319	.	.	0.0007	0.0016	0.0003	0.0006	0	0.0005	0	0.0010	0.0004226	11	26028	rs200307945	6.863e-07	6.704e-05	0	1.38e-06	2.993e-05	0	0	.	.	2.993e-05	0	0	0	0	0	0	0	0	7.438e-05	0.0022	7.925e-05	6.928e-05	0.0001	4.084e-05	3.21e-05	2.373e-05	1.153e-05	7.357e-05	0	0.0001	0	0	0.0002	0	6.064e-05	0	0	0.019	0.50132	D	0.028	0.54934	D	0.919	0.50927	P	0.434	0.45506	B	0.021110	0.26899	N	0.174647	0.999999	0.81001	D	.	.	.	-1.18	0.78314	T	-4.26	0.76174	D	0.858	0.85449	0.555	0.91299	D	0.653	0.87931	D	10	0.7457582	0.75276	D	0.123556	0.80474	D	0.716	0.89922	.	.	0.948330180838	0.94778	0.8698068499494038	0.86945	0.884775936026	0.69930	0.722264707088	0.70377	T	.	.	.	0.0775077	0.61747	D	-0.126442	0.61271	T	0.449991984269792	0.30797	T	0.832017	0.49964	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.73467	P	.	.	4.487158	0.70057	25.5	0.99828707284819318	0.91112	0.95135	0.63566	D	AEFBCI	0.948508	0.96021	D	0.820820393681501	0.87389	9.201381	0.795232453656589	0.89459	9.983935	0.999999999999984	0.74766	0.766844	0.99359	0	0.851219	0.99844	0	0.391439	0.06340	0	0.56751	0.32155	0	.	.	5.75	5.75	0.90390	7.769000	0.84183	7.797000	0.69042	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.066	0.80684	1	0.99630	Kringle|Kringle, conserved site|Kringle|Kringle|Kringle	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	98.03	80	chr3	49686764	.	T	C	98.03	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.73;DP=1724;ExcessHet=0.0000;FS=41.885;InbreedingCoeff=-0.0280;MLEAC=1;MLEAF=0.024;MQ=49.14;MQRankSum=-4.277e+00;QD=1.17;ReadPosRankSum=-3.380e-01;SOR=4.972	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	20	0	1	0
chr3	49701504	49701504	C	T	exonic	RNF123	.	nonsynonymous SNV	RNF123:NM_022064:exon16:c.C1291T:p.R431C,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	1.0	D	0.993	D	0.007	N	1.000	D	0.55	N	-0.68	T	-0.245	T	0.403	T	0.892	3.167	16.59	4.82	1.376	5.530	14.972	0.392	0.245817894919	.	.	9.977e-05	0	0	0	0	0.0002	0	0	9.06e-05	14	154602	rs752231755	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	0.0001	0.0001	0.0001	0	0	0.0005	2.519e-05	0	0.0005	0.0001	0.0001	0	7.883e-05	8.536e-05	0.0001	4.034e-05	0.0001	4.496e-05	3.512e-05	7.907e-05	5.993e-05	2.413e-05	0	6.539e-05	0	0	0	0	0.0001	0	0	0.17	0.91255	T	0.001	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.006585	0.31929	N	0.328896	0.999999	0.58761	D	1.04	0.26193	L	-0.68	0.75789	T	-0.81	0.22294	N	0.861	0.87808	-0.2455	0.76480	T	0.403	0.75366	T	10	0.743267	0.75108	D	0.245818	0.88902	D	0.392	0.70764	.	.	0.801782176853	0.79993	0.6488406042146031	0.64820	1.07698736004	0.77008	0.678844571114	0.64103	T	0.019593	0.15579	T	0.129566	0.67319	D	0.227771	0.84559	D	0.431962668895721	0.30133	T	0.962604	0.86656	D	0.28575924	0.51596	0.05570694	0.09822	0.28575924	0.51596	0.05570694	0.09821	-10.448	0.76548	D	.	.	0.360	0.61203	A	.;.	.;.	4.870309	0.79777	27.2	0.99882934865705397	0.95892	0.98574	0.84258	D	AEFDGBHCI	0.815501	0.73746	D	0.18062655754346	0.50270	3.218588	0.16847448928091	0.48130	3.033068	0.999999999568851	0.74766	0.789315	0.99827	0	0.577304	0.33150	0	0.768056	0.98339	0	0.714379	0.83352	0	.	.	5.71	4.82	0.61641	5.609000	0.67343	5.931000	0.51320	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.023000	0.12082	0.1438:0.8562:0.0:0.0	14.972	0.70896	1	0.99630	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	880.98	84	chr3	49701504	.	C	T	880.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.153;DP=792;ExcessHet=0.0000;FS=0.845;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=0.662;SOR=0.897	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,111,1381	20	0	1	0
chr3	49701540	49701540	C	T	exonic	RNF123	.	nonsynonymous SNV	RNF123:NM_022064:exon16:c.C1327T:p.R443C,	.	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.993	D	0.001	D	1.000	D	0.695	N	-0.84	T	-0.104	T	0.456	T	0.925	4.369	23.0	5.56	2.618	2.143	13.487	0.416	0.21340056963	0.0008	0.000399361	0.0007	0	8.651e-05	0	0.0011	0.0011	0.0022	0.0001	0.0006339	98	154602	rs146225272	0.0008	0.0008	0.0008	0.0008	0.0019	0.0007	0.0007	0.0011	0.0008	0.0002	4.472e-05	0.0014	7.557e-05	0.0010	0.0019	0.0008	0.0008	0.0002	0.0006	0.0006	0.0006	0.0007	0.0011	0.0005	0.0005	0.0009	0.0008	0.0001	0	0.0003	0.0009	0.0006	0.0008	0.0034	0.0011	0.0005	0	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.000612	0.42945	D	0.199190	0.999998	0.58761	D	1.04	0.26193	L	-0.84	0.77466	T	-1.49	0.36385	N	0.927	0.93135	-0.1039	0.80009	T	0.456	0.78831	T	10	0.39169902	0.54938	T	0.213401	0.87404	D	0.416	0.72631	.	.	0.887479045773	0.88637	0.6207227270239724	0.62005	1.07698736004	0.77008	0.756863951683	0.75462	T	0.035191	0.23621	T	0.0233432	0.54833	T	0.236127	0.84965	D	0.0914466429840307	0.11388	T	0.965803	0.87368	D	0.22486103	0.45136	0.12259821	0.29572	0.22486103	0.45136	0.12259821	0.29572	-8.424	0.63924	D	.	.	0.677	0.72018	P	.;.	.;.	5.309389	0.89129	29.9	0.99937464969036316	0.99661	0.90928	0.52528	D	AEFDGBHCI	0.629214	0.61101	D	0.476231909942905	0.65704	4.856241	0.501614158467823	0.68099	5.173581	0.999999841782201	0.74766	0.789315	0.99827	0	0.577304	0.33150	0	0.768056	0.98339	0	0.635551	0.53088	0	.	.	5.56	5.56	0.83678	2.179000	0.42157	4.856000	0.45423	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.945000	0.48827	0.1561:0.8438:0.0:0.0	13.487	0.60824	1	0.99630	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	962.98	59	chr3	49701540	.	C	T	962.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=914;ExcessHet=0.0000;FS=3.389;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.59;ReadPosRankSum=0.960;SOR=0.982	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	20	0	1	0
chr3	49718354	49718354	A	G	exonic	AMIGO3	.	nonsynonymous SNV	AMIGO3:NM_198722:exon1:c.T1112C:p.V371A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.999	D	0.994	D	0.000	D	1.000	D	2.88	M	-2.14	D	0.705	D	0.799	D	0.806	4.872	27.9	5.4	2.046	9.284	14.238	0.706	0.274203768896	.	.	5.85e-05	0	0	0	0	0	0.0023	0.0003	4.53e-05	7	154602	rs753941544	1.643e-05	1.642e-05	5.448e-06	2.752e-05	0.0003	1.111e-05	9.34e-06	0.0002	0.0001	0	0	0	0	0	0	8.993e-07	1.656e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.131	0.34596	T	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.745	0.80253	M	-2.14	0.86415	D	-2.08	0.47514	N	0.195	0.21449	0.705	0.93237	D	0.799	0.93205	D	10	0.39506713	0.55167	T	0.274204	0.89993	D	0.706	0.89468	0.367	0.37524	0.996028997461	0.99598	0.9138165146817268	0.91356	.	.	0.697179198265	0.66737	T	0.119633	0.44130	T	0.0629192	0.59978	T	0.174569	0.81679	D	0.709342479705811	0.41168	D	0.513449	0.16474	T	0.2225498	0.44857	0.14555861	0.34518	0.2225498	0.44857	0.14555861	0.34517	-5.966	0.45994	T	.	.	0.632	0.70186	P	.	.	4.708970	0.75631	26.4	0.99836524418122485	0.91714	0.97520	0.75284	D	AEFDGBHCI	0.895645	0.83588	D	0.794147457081205	0.85737	8.666642	0.733136261851564	0.84894	8.420915	0.999999999999985	0.74766	0.741868	0.97996	0	0.702456	0.74545	0	0.774882	0.98623	0	0.664235	0.64389	0	.	.	5.4	5.4	0.77957	7.511000	0.80606	9.342000	0.80225	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.615000	0.31768	1.0:0.0:0.0:0.0	14.238	0.65484	1	0.99630	Immunoglobulin subtype	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2013.98	35	chr3	49718354	.	A	G	2013.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.057e+00;DP=866;ExcessHet=0.0000;FS=1.250;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.43;ReadPosRankSum=-6.730e-01;SOR=0.582	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1055	20	0	1	0
chr3	49721030	49721030	A	G	exonic	RNF123	.	nonsynonymous SNV	RNF123:NM_022064:exon38:c.A3749G:p.E1250G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.995	D	0.000	D	1.000	D	2.885	M	-0.44	T	0.138	D	0.509	D	0.781	4.373	23.1	4.39	1.976	8.588	13.248	0.560	0.194543327456	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	6.84e-07	1.362e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.54683	D	0.055	0.60337	T	0.999	0.77913	D	0.995	0.83170	D	0.000065	0.52346	D	0.121832	1	0.81001	D	3.07	0.87108	M	-0.44	0.69777	T	-2.5	0.65742	D	0.69	0.74735	0.138	0.84840	D	0.509	0.81551	D	10	0.6155852	0.67687	D	0.194543	0.86369	D	0.560	0.81946	0.319	0.29741	0.461122776993	0.45736	0.5826215934833041	0.58191	0.984526789669	0.73857	0.730415225029	0.71566	T	0.044523	0.26842	T	0.229125	0.76640	D	0.0913453	0.76335	D	0.983700692653656	0.75272	D	0.884611	0.60805	D	0.2063693	0.42809	0.23982549	0.49341	0.2063693	0.42809	0.23982549	0.49340	-7.942	0.60674	D	.	.	0.653	0.76474	P	.;.	.;.	5.300598	0.88993	29.8	0.99915403139896231	0.98379	0.98451	0.82913	D	AEFDGBHCI	0.938412	0.93756	D	0.823768782596189	0.87568	9.263444	0.742905481300861	0.85625	8.637093	0.999999999986239	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.39	4.39	0.52211	8.534000	0.90429	11.073000	0.85618	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	13.248	0.59465	1	0.99630	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2152.98	33	chr3	49721030	.	A	G	2152.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.597e+00;DP=910;ExcessHet=0.0000;FS=5.046;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=-2.540e-01;SOR=0.467	GT:AD:DP:GQ:PL	0/1:106,89:195:99:2167,0,2866	20	0	1	0
chr3	49808993	49808993	G	A	exonic	UBA7	.	nonsynonymous SNV	UBA7:NM_003335:exon18:c.C2330T:p.S777L,	.	.	409	1112	1	0	0	1	0.000449438	.	.	2445695	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.2	T	0.035	B	0.022	B	0.052	N	1.000	N	0.345	N	1.03	T	-1.053	T	0.047	T	0.04	2.308	13.67	-8.82	-2.878	-1.805	0.865	0.006	0.00192256730063	.	.	7.084e-05	0	0	0	0	3.205e-05	0	0.0004	5.17e-05	8	154602	rs776826132	4.79e-05	4.788e-05	4.085e-05	5.503e-05	0.0007	3.861e-05	3.541e-05	0.0003	0.0002	2.987e-05	0	3.828e-05	2.519e-05	0	0.0007	2.248e-05	0.0001	0.0003	3.285e-05	3.283e-05	2.569e-05	4.034e-05	0.0004	1.261e-05	7.98e-06	7.279e-05	3.025e-05	0	0	0	0	0	0	0	4.409e-05	0	0.0004	0.19	0.21144	T	0.299	0.20422	T	0.035	0.20614	B	0.022	0.19653	B	0.051830	0.02029	N	2.286060	1	0.08975	N	0.16	0.08945	N	1.03	0.40469	T	-1.68	0.40082	N	0.083	0.05929	-1.0534	0.13466	T	0.047	0.19998	T	10	0.024838477	0.00698	T	0.001923	0.03404	T	0.006	0.00375	0.302	0.27003	0.0551355673512	0.04727	0.1548110912903082	0.15402	0.190059995647	0.21322	0.230812847614	0.02029	T	0.146192	0.48367	T	-0.568944	0.00225	T	-0.749049	0.03523	T	0.0254621862200264	0.01334	T	0.611839	0.23263	T	0.059699934	0.12165	0.05376696	0.09118	0.059699934	0.12164	0.05376696	0.09118	-4.341	0.28748	T	.	.	0.066	0.02200	B	.	.	0.121028	0.05184	1.700	0.73734975216594745	0.10436	0.02440	0.06875	N	AEFDGBIJ	0.061396	0.11736	N	-1.60285465182563	0.01250	0.05439548	-1.69893020581312	0.01142	0.05136243	0.999999997480955	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	4.41	-8.82	0.00699	-2.355000	0.01168	-1.670000	0.04947	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.880000	0.42090	0.1918:0.1516:0.2602:0.3964	0.865	0.01124	2	0.99499	THIF-type NAD/FAD binding fold|Ubiquitin-activating enzyme, catalytic cysteine domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1025.98	43	chr3	49808993	.	G	A	1025.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.32;DP=785;ExcessHet=0.0000;FS=1.811;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=0.134;SOR=0.913	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1065	20	0	1	0
chr3	49812492	49812492	G	A	exonic	UBA7	.	nonsynonymous SNV	UBA7:NM_003335:exon6:c.C610T:p.R204C,	.	.	.	.	.	.	.	.	.	.	.	2397989	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.0	B	0.0	B	0.045	N	1.000	N	-0.41	N	1.51	T	-1.009	T	0.030	T	0.093	2.122	13.05	-10.9	-1.791	-1.011	9.124	0.050	0.00510123387456	.	.	3.295e-05	0	0	0	0.0002	4.496e-05	0	0	3.23e-05	5	154602	rs772727259	1.915e-05	1.915e-05	1.497e-05	2.338e-05	2.319e-05	1.328e-05	1.144e-05	1.46e-05	1.227e-05	0	0	0	0	0	0	2.158e-05	3.311e-05	2.319e-05	3.942e-05	3.94e-05	3.854e-05	4.035e-05	0.0001	1.715e-05	1.129e-05	2.261e-05	9.07e-06	2.413e-05	0	0.0001	0	0	0	0	2.939e-05	0.0005	0	0.077	0.34095	T	0.066	0.44501	T	0.0	0.02946	B	0.0	0.01387	B	0.044960	0.01940	N	1.802330	0.999777	0.20412	N	-0.21	0.04010	N	1.51	0.30937	T	-3.02	0.62630	D	0.087	0.06454	-1.0086	0.27354	T	0.030	0.12804	T	10	0.047828138	0.04153	T	0.005101	0.12939	T	0.050	0.13987	0.484	0.56621	0.0551355673512	0.04727	0.341284228284862	0.34041	0.286801719503	0.31071	0.182575032115	0.00120	T	0.257532	0.62858	T	-0.395052	0.02494	T	-0.741596	0.03823	T	0.17390376329422	0.18842	T	0.357564	0.08149	T	0.07812895	0.17775	0.0960494	0.22805	0.07812895	0.17774	0.0960494	0.22804	-4.536	0.31356	T	.	.	0.074	0.05231	B	.	.	0.297348	0.06730	3.243	0.82043477711143686	0.13990	0.01888	0.05800	N	AEFGBI	0.048859	0.08382	N	-1.73977463490396	0.00710	0.03065071	-1.82302744383319	0.00688	0.03064093	0.999999999980301	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.55458	0.18720	0	0.635551	0.53088	0	.	.	5.46	-10.9	0.00151	-1.757000	0.01910	-0.251000	0.10506	-0.845000	0.02763	0.000000	0.06391	0.000000	0.08366	0.070000	0.16646	0.1124:0.0808:0.6472:0.1597	9.124	0.35966	1	0.99630	THIF-type NAD/FAD binding fold|Ubiquitin-activating enzyme E1, FCCH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1263.98	36	chr3	49812492	.	G	A	1263.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.830;DP=867;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.48;ReadPosRankSum=-1.817e+00;SOR=0.657	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr3	49842483	49842483	C	T	exonic	TRAIP	.	nonsynonymous SNV	TRAIP:NM_005879:exon6:c.G473A:p.R158Q,	Seckel syndrome 9, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.211	B	0.018	B	0.000	N	1.000	D	1.355	L	-1.07	T	-0.857	T	0.253	T	0.152	1.669	11.54	1.83	0.333	0.366	9.838	0.142	0.0320850453081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs959180233	1.3e-05	1.3e-05	1.225e-05	1.375e-05	0.0002	8.31e-06	6.7e-06	9.89e-06	3.88e-06	5.974e-05	4.472e-05	0	2.519e-05	0	0.0002	9.892e-06	3.312e-05	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	2.415e-05	2.19e-06	8.2e-07	.	.	2.415e-05	0	0	0	0	0	0	1.47e-05	0	0	0.138	0.25873	T	0.013	0.63109	D	0.211	0.29987	B	0.018	0.18489	B	0.000418	0.44736	N	0.221758	0.991015	0.58761	D	0.98	0.24916	L	-1.07	0.76948	T	-0.69	0.23156	N	0.273	0.30914	-0.8574	0.51448	T	0.253	0.62292	T	10	0.11997643	0.22714	T	0.032085	0.54006	D	0.142	0.37995	0.169	0.07419	0.656813955947	0.65394	0.12307327735444547	0.12233	0.423052942413	0.42785	0.256692409515	0.04504	T	0.142602	0.47827	T	-0.24116	0.15201	T	-0.402658	0.33076	T	0.0612418373011549	0.07363	T	0.80002	0.46176	T	0.026425015	0.01698	0.047292404	0.06780	0.026425015	0.01698	0.047292404	0.06779	-5.838	0.44904	T	.	.	0.074	0.05060	B	.;.	.;.	1.570635	0.20107	14.59	0.9833885557197064	0.40418	0.25007	0.22568	N	AEFBI	0.070012	0.13882	N	-0.762697614465334	0.14291	0.7106645	-0.696865279156462	0.17039	0.9041903	0.988634223903297	0.31579	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.67	1.83	0.24279	0.298000	0.18874	-0.477000	0.08942	-0.193000	0.09282	0.045000	0.21207	0.000000	0.08366	0.865000	0.41091	0.0:0.6709:0.0:0.3291	9.838	0.40151	1	0.99630	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1749.98	41	chr3	49842483	.	C	T	1749.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.456;DP=863;ExcessHet=0.0000;FS=5.762;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=-8.910e-01;SOR=0.651	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1439	20	0	1	0
chr3	49859623	49859623	T	G	exonic	CAMKV	.	nonsynonymous SNV	CAMKV:NM_024046:exon11:c.A1201C:p.S401R	.	.	419	1100	3	0	0	3	0.00136178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.86	P	0.477	P	0.000	D	1.000	N	0.895	L	1.61	T	-0.519	T	0.262	T	0.147	2.088	12.94	5.44	2.288	0.423	13.502	0.083	0.195030138047	.	0.00179712	0.0005	0.0002	0	0	0	9.001e-05	0	0.0035	0.0004786	74	154602	rs556114266	0.0003	0.0003	0.0002	0.0004	0.0030	0.0003	0.0002	0.0027	0.0026	0.0001	6.708e-05	0	0	0	0.0007	0.0001	0.0002	0.0030	0.0002	0.0002	0.0002	0.0002	0.0031	0.0001	0.0001	0.0019	0.0015	0.0002	0	0	0	0	0	0	7.355e-05	0.0005	0.0031	0.025	0.61437	D	0.436	0.30534	T	0.005	0.40793	B	0.008	0.37471	B	0.000130	0.49741	D	0.000000	0.999882	0.50402	D	0.695	0.17993	N	0.31	0.70249	T	-0.36	0.25118	N	0.296	0.57348	-0.5193	0.67940	T	0.262	0.63264	T	10	0.003497064	0.00062	T	0.19503	0.86397	D	0.083	0.24192	0.178	0.08503	0.433638433634	0.42984	0.457790195700997	0.45697	1.94467123622	0.93298	0.611474514008	0.54524	T	0.068587	0.33494	T	-0.412861	0.01903	T	-0.370438	0.36839	T	0.0374692510630961	0.03239	T	0.747925	0.64678	T	0.13003315	0.30352	0.14038916	0.33465	0.13003315	0.30352	0.14038916	0.33464	-7.079	0.56323	T	.	.	0.378	0.71803	A	.;.;.;.;.;.	.;.;.;.;.;.	4.260774	0.64748	24.7	0.9940618972716414	0.63028	0.18565	0.20312	N	AEFBI	0.111291	0.22039	N	-0.238221747166234	0.31576	1.771949	-0.13443297127721	0.34013	1.951815	0.997067847898917	0.35242	0.732398	0.92422	0	0.59043	0.45803	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	5.44	5.44	0.79348	2.515000	0.45172	6.127000	0.53864	0.665000	0.62972	0.148000	0.23625	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	13.502	0.60917	1	0.99630	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2039.98	38	chr3	49859623	.	T	G	2039.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.656;DP=901;ExcessHet=0.0000;FS=0.532;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.97;ReadPosRankSum=1.07;SOR=0.651	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1115	20	0	1	0
chr3	49899193	49899193	G	A	exonic	MST1R	.	nonsynonymous SNV	MST1R:NM_001244937:exon2:c.C1301T:p.S434L	.	.	416	1068	37	1	0	39	0.017931	.	.	3191967	MST1R-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.63	T	0.0	B	0.004	B	0.286	N	1.000	N	-0.55	N	2.82	T	-0.976	T	0.008	T	0.114	0.254	5.373	-7.08	-1.589	-0.875	1.154	0.039	0.00297458851459	0.0008	0.00139776	0.0018	9.623e-05	0.0016	0	0.0003	0.0013	0.0077	0.0061	0.0016171	250	154602	rs2230591	0.0012	0.0012	0.0009	0.0015	0.0175	0.0012	0.0011	0.0147	0.0137	2.987e-05	0.0009	0.0024	7.557e-05	0.0002	0.0175	0.0008	0.0019	0.0068	0.0009	0.0009	0.0008	0.0010	0.0068	0.0008	0.0007	0.0050	0.0044	0.0002	0	0.0005	0.0017	0	0.0002	0.0170	0.0011	0.0028	0.0068	0.634	0.05436	T	0.631	0.07316	T	0.0	0.02946	B	0.004	0.10090	B	0.285864	0.03862	N	1.389580	1	0.08975	N	0.22	0.09567	N	2.82	0.10871	T	-1.29	0.32387	N	0.098	0.09066	-0.9762	0.35860	T	0.008	0.02926	T	10	0.0058416724	0.00130	T	0.002975	0.06339	T	0.039	0.10176	.	.	0.12205267543	0.11705	0.5909671984149649	0.59026	0.16178190297	0.18257	0.258691132069	0.04736	T	0.087701	0.37999	T	-0.686297	0.00044	T	-0.755009	0.03294	T	0.00712579600347077	0.00081	T	0.707329	0.31793	T	0.07501784	0.16873	0.06977867	0.14744	0.11437104	0.27001	0.077430174	0.17248	-6.57	0.50823	T	.	.	0.089	0.12276	B	.;.	.;.	-0.363962	0.02350	0.255	0.78777275926638135	0.12448	0.13711	0.18009	N	AEFDGBHCI	0.177437	0.30467	N	-1.74925140978968	0.00682	0.02941146	-1.7299566151157	0.01011	0.04532415	0.999999999832608	0.74766	0.656854	0.48797	0	0.588066	0.40923	0	0.67347	0.61138	0	0.604944	0.38103	0	.	.	5.82	-7.08	0.01404	-1.930000	0.01648	-0.788000	0.07426	-0.786000	0.03287	0.000000	0.06391	0.000000	0.08366	0.175000	0.21139	0.4178:0.1557:0.1291:0.2974	1.154	0.01681	1	0.99630	Sema domain|Sema domain|Sema domain|RON, Sema domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2051.98	158	chr3	49899193	.	G	A	2051.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.37;DP=924;ExcessHet=0.0000;FS=4.678;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.99;ReadPosRankSum=0.409;SOR=1.048	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr3	49903228	49903228	C	T	exonic	MST1R	.	nonsynonymous SNV	MST1R:NM_001244937:exon1:c.G382A:p.A128T	.	.	406	1115	1	0	0	1	0.000448229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.979	D	0.459	P	0.823	N	1.000	N	1.5	L	2.86	T	-1.056	T	0.031	T	0.223	0.514	6.784	4.02	2.282	0.453	10.363	0.111	0.00981177451762	.	.	8.465e-06	0	0	0	0	0	0	6.072e-05	6.5e-06	1	154602	rs769845082	3.436e-06	4.104e-06	4.104e-06	2.762e-06	1.159e-05	1.01e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	3.314e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.11156	T	0.39	0.32355	T	0.917	0.50750	P	0.18	0.35854	B	0.823413	0.09161	N	0.926907	1	0.08975	N	1.54	0.38927	L	2.86	0.10482	T	-0.91	0.27669	N	0.134	0.19325	-1.0561	0.12750	T	0.031	0.13242	T	10	0.0857507	0.14508	T	0.009812	0.25586	T	0.111	0.31313	0.318	0.29581	0.270889551736	0.26708	0.3988196515856671	0.39796	0.312029139703	0.33506	0.320726573467	0.13531	T	0.050043	0.28480	T	-0.342505	0.05217	T	-0.629131	0.10480	T	0.228234186768532	0.21867	T	0.877212	0.60027	D	0.15953326	0.35832	0.19206059	0.42700	0.15953326	0.35831	0.19206059	0.42699	-4.58	0.32372	T	.	.	0.085	0.17402	B	.;.;.;.	.;.;.;.	1.978371	0.25134	16.65	0.95796381212897763	0.27844	0.17317	0.19784	N	AEFDGBHCI	0.188299	0.31557	N	-0.292953244059772	0.29419	1.631291	-0.388290375777704	0.25345	1.39325	0.999999951714329	0.74766	0.56387	0.32371	0	0.541556	0.11502	0	0.503968	0.08637	0	0.562822	0.20929	0	.	.	4.96	4.02	0.45968	0.535000	0.22822	3.208000	0.36786	0.599000	0.40250	0.000000	0.06391	0.149000	0.23162	0.972000	0.54974	0.2335:0.6435:0.123:0.0	10.363	0.43191	1	0.99630	Sema domain|Sema domain|Sema domain|RON, Sema domain;Sema domain|Sema domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2107.98	35	chr3	49903228	.	C	T	2107.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.788;DP=838;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.17;ReadPosRankSum=0.467;SOR=0.721	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1049	20	0	1	0
chr3	49910333	49910333	T	C	exonic	MON1A	.	nonsynonymous SNV	MON1A:NM_001142501:exon3:c.A970G:p.T324A	.	.	423	1057	41	1	0	43	0.0199351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	B	0.079	B	0.000	N	0.879	D	0.55	N	.	.	-1.006	T	0.092	T	0.132	0.902	8.667	4.77	1.074	4.219	7.885	0.234	0.0122626836389	0.0019	0.00259585	0.0041	0.0004	0.0053	0.0001	0.0003	0.0046	0.0055	0.0075	0.0038227	591	154602	rs139967875	0.0034	0.0034	0.0031	0.0036	0.0154	0.0033	0.0032	0.0128	0.0119	0.0004	0.0042	0.0022	0	0.0003	0.0154	0.0032	0.0043	0.0087	0.0025	0.0025	0.0026	0.0024	0.0079	0.0023	0.0022	0.0059	0.0052	0.0006	0	0.0039	0.0009	0	0.0005	0.0102	0.0035	0.0066	0.0079	0.528	0.30235	T	0.129	0.34837	T	.	.	.	.	.	.	0.000023	0.55875	N	0.191223	0.878784	0.35708	D	1.485	0.37223	L	.	.	.	-0.28	0.11547	N	0.179	0.19325	-1.0055	0.28307	T	0.092	0.35065	T	8	0.0066067576	0.00150	T	0.012263	0.30673	T	0.234	0.53644	.	.	0.398581233421	0.39469	0.3438070955695745	0.34294	0.886748449925	0.70032	0.439069926739	0.30449	T	0.010163	0.09205	T	-0.472505	0.00820	T	-0.446089	0.28129	T	0.028436535226899	0.01751	T	0.775622	0.40735	T	0.077696264	0.17650	0.053613525	0.09065	0.077696264	0.17650	0.053613525	0.09064	-4.639	0.33920	T	.	.	0.059	0.02927	B	.;.;.;.;.	.;.;.;.;.	2.886048	0.38205	20.7	0.84069631274082601	0.15079	0.86097	0.45315	D	AEFGBCI	0.591198	0.58739	D	-0.187414585622346	0.33658	1.91204	0.0147105771458396	0.40397	2.410217	0.999999212471759	0.74766	0.72623	0.87236	0	0.724815	0.89359	0	0.594344	0.31042	0	0.714379	0.83352	0	.	.	5.92	4.77	0.60425	4.206000	0.58271	5.080000	0.47258	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0691:0.1377:0.7932	7.885	0.28809	1	0.99630	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1505.98	35	chr3	49910333	.	T	C	1505.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.600e-02;DP=847;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=-4.600e-02;SOR=0.676	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1275	20	0	1	0
chr3	49967940	49967940	C	T	exonic	RBM6	.	nonsynonymous SNV	RBM6:NM_005777:exon3:c.C515T:p.P172L,	.	.	421	1085	16	0	0	16	0.0073193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	B	0.062	B	0.001	D	1.000	D	1.245	L	1.43	T	-1.099	T	0.083	T	0.421	2.493	14.30	5.88	2.797	4.345	20.241	0.083	0.0100298902649	0.0034	0.000998403	0.0030	0.0010	0.0009	0	0.0015	0.0048	0.0022	0.0012	0.0032988	510	154602	rs142246877	0.0049	0.0049	0.0049	0.0048	0.0073	0.0048	0.0047	0.0056	0.0056	0.0011	0.0018	0.0003	0	0.0019	0.0073	0.0058	0.0045	0.0016	0.0030	0.0030	0.0031	0.0028	0.0051	0.0027	0.0027	0.0046	0.0045	0.0011	0.0011	0.0020	0.0003	0	0.0014	0.0102	0.0051	0.0038	0.0006	0.001	0.78490	D	0.021	0.64786	D	0.321	0.33029	B	0.062	0.26930	B	0.000894	0.41231	D	0.109289	0.999863	0.81001	D	1.65	0.42232	L	1.43	0.34452	T	-1.85	0.50992	N	0.486	0.52029	-1.0993	0.04177	T	0.083	0.32440	T	9	0.004526913	0.00093	T	0.01003	0.26080	T	0.083	0.24192	.	.	0.15499578495	0.15088	0.14153409268837117	0.14076	0.305705308733	0.32871	0.419859230518	0.27816	T	0.042636	0.26245	T	-0.382983	0.02983	T	-0.319179	0.42666	T	0.0381481344631312	0.03359	T	0.770723	0.40088	T	0.08188415	0.18837	0.20852245	0.45158	0.08188415	0.18837	0.20852245	0.45157	-5.356	0.40494	T	.	.	0.103	0.24599	B	.;.	.;.	3.351299	0.46229	22.3	0.99153785998759991	0.53903	0.90023	0.50882	D	AEFBI	0.339796	0.43682	N	0.143595569422062	0.48509	3.062314	0.316290365851008	0.56498	3.813063	0.999999963288483	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.88	5.88	0.94564	4.948000	0.63290	3.916000	0.40440	0.599000	0.40250	0.957000	0.33433	0.985000	0.30750	0.998000	0.85391	0.0:1.0:0.0:0.0	20.241	0.98374	1	0.99630	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2030.98	39	chr3	49967940	.	C	T	2030.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.078e+00;DP=845;ExcessHet=0.0000;FS=0.658;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.62;ReadPosRankSum=2.20;SOR=0.793	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1077	20	0	1	0
chr3	49968422	49968422	G	A	exonic	RBM6	.	nonsynonymous SNV	RBM6:NM_005777:exon3:c.G997A:p.E333K,	.	.	431	1075	16	0	0	16	0.00738689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	D	0.985	D	0.000	D	1.000	D	0.805	L	1.15	T	-0.978	T	0.157	T	0.79	3.249	16.90	6.04	2.873	4.840	13.733	0.185	0.0143845706614	0.0034	0.000998403	0.0030	0.0010	0.0009	0	0.0015	0.0048	0.0022	0.0012	0.0032988	510	154602	rs143972186	0.0049	0.0049	0.0049	0.0048	0.0073	0.0048	0.0047	0.0056	0.0056	0.0011	0.0018	0.0003	0	0.0019	0.0073	0.0058	0.0045	0.0016	0.0030	0.0030	0.0031	0.0028	0.0051	0.0028	0.0027	0.0046	0.0045	0.0011	0.0011	0.0020	0.0003	0	0.0014	0.0102	0.0051	0.0038	0.0006	0.003	0.68238	D	0.029	0.60972	D	0.997	0.70673	D	0.985	0.76457	D	0.000098	0.51296	D	0.128334	0.999955	0.81001	D	1.67	0.42885	L	1.11	0.38883	T	-0.85	0.26843	N	0.602	0.62781	-0.9783	0.35390	T	0.157	0.48976	T	9	0.009088129	0.00206	T	0.014385	0.34475	T	0.185	0.45933	.	.	0.452650218784	0.44890	0.11714516375178394	0.11642	0.724846526864	0.62416	0.580195665359	0.50113	T	0.024564	0.18538	T	-0.218656	0.18177	T	-0.0831343	0.64675	T	0.0142588193611451	0.00283	T	0.941106	0.80130	D	0.2278714	0.45495	0.30712542	0.56735	0.2278714	0.45495	0.30712542	0.56734	-5.463	0.41521	T	.	.	0.097	0.24767	B	.;.	.;.	4.537798	0.71295	25.7	0.99890397515720919	0.96436	0.96020	0.67171	D	AEFBI	0.584761	0.58345	D	0.581729494852184	0.72037	5.742766	0.632814666593863	0.77337	6.65978	0.999999901186462	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.04	6.04	0.98025	5.689000	0.67897	11.683000	0.94248	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0698:0.0:0.9302:0.0	13.733	0.62284	1	0.99630	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2026.98	39	chr3	49968422	.	G	A	2026.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.650;DP=866;ExcessHet=0.0000;FS=0.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=-2.300e-02;SOR=0.697	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1077	20	0	1	0
chr3	50187822	50187822	G	A	exonic	SEMA3F	.	nonsynonymous SNV	SEMA3F:NM_001318798:exon18:c.G1768A:p.V590I	.	.	412	1102	8	0	0	8	0.00361664	.	.	3210854	SEMA3F-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.95	T	0.39	B	0.032	B	0.001	N	0.956	D	0.695	N	4.79	T	-0.888	T	0.004	T	0.1	0.714	7.802	3.58	0.617	2.701	10.298	0.063	0.0161833697957	0.0011	0.000399361	0.0012	0.0003	0.0029	0	0.0011	0.0013	0.0023	0.0007	0.0010026	155	154602	rs141689328	0.0010	0.0010	0.0010	0.0010	0.0071	0.0010	0.0010	0.0054	0.0048	0.0008	0.0021	0.0030	0	0.0013	0.0071	0.0009	0.0015	0.0005	0.0009	0.0009	0.0009	0.0009	0.0012	0.0008	0.0007	0.0010	0.0009	0.0002	0	0.0010	0.0049	0	0.0010	0	0.0012	0.0019	0.0002	0.47	0.08483	T	0.303	0.20164	T	0.39	0.34593	B	0.032	0.22131	B	0.000545	0.43413	N	0.204155	0.928855	0.37948	D	1.525	0.38595	L	4.79	0.01539	T	0.47	0.03090	N	0.052	0.02366	-0.8880	0.49105	T	0.004	0.01192	T	10	0.005934298	0.00133	T	0.016183	0.37308	T	0.063	0.18251	.	.	0.220282294035	0.21616	0.18279266278182113	0.18198	0.175518212724	0.19754	0.437951624393	0.30298	T	0.013103	0.35868	T	-0.610742	0.00125	T	-0.656541	0.08502	T	0.00309019147921699	0.00032	T	0.828517	0.49484	T	0.011967518	0.00025	0.02595954	0.00662	0.011967518	0.00025	0.02595954	0.00662	-7.141	0.57512	T	.	.	0.071	0.09917	B	.;.;.	.;.;.	2.446189	0.31491	18.76	0.92189602201923893	0.21557	0.92422	0.55675	D	AEFDBI	0.233477	0.35639	N	-0.508233363791091	0.21813	1.160363	-0.374450260737225	0.25761	1.418685	0.999667659137361	0.41534	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.42	3.58	0.40133	1.885000	0.39312	2.518000	0.33107	0.672000	0.70159	0.979000	0.35152	0.996000	0.32793	0.557000	0.30341	0.1671:0.0:0.8329:0.0	10.298	0.42818	4	0.99387	Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1820.98	36	chr3	50187822	.	G	A	1820.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.585e+00;DP=921;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=1.10;SOR=0.693	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1394	20	0	1	0
chr3	50273405	50273405	G	C	exonic	SEMA3B	.	nonsynonymous SNV	SEMA3B:NM_001290060:exon7:c.G772C:p.G258R	.	.	413	1092	15	2	0	19	0.0086246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	1.0	D	1.0	D	0.000	D	.	.	.	.	.	.	-0.219	T	0.334	T	0.143	1.157	9.711	5.0	2.597	3.511	9.239	0.366	.	0.0002	0.000599042	0.0008	0	0.0003	0	0	0.0006	0.0011	0.0036	0.0006856	106	154602	rs148660513	0.0005	0.0005	0.0004	0.0006	0.0042	0.0005	0.0004	0.0030	0.0028	2.987e-05	0.0005	0.0027	0	0	0.0042	0.0002	0.0009	0.0033	0.0005	0.0005	0.0004	0.0006	0.0031	0.0004	0.0004	0.0019	0.0015	4.808e-05	0	0.0013	0.0037	0	0	0	0.0003	0.0028	0.0031	.	.	.	0.096	0.39340	T	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.053184	.	.	.	.	.	.	.	.	.	.	.	.	0.471	0.53181	-0.2191	0.77175	T	0.334	0.70150	T	7	0.015580356	0.00327	T	.	.	.	.	.	0.558	0.67684	0.502005994047	0.49837	0.7706683465859802	0.77015	.	.	0.614570021629	0.54961	T	0.115302	0.43378	T	-0.312711	0.07511	T	-0.22407	0.52344	T	0.241436918317453	0.22486	T	0.864713	0.56210	D	0.3951943	0.60398	0.5366691	0.73225	0.3951943	0.60399	0.5366691	0.73226	-8.129	0.61946	D	.	.	0.347	0.61414	A	.;.;.;.	.;.;.;.	5.526492	0.91831	32	0.91339233937260367	0.20602	0.87689	0.47313	D	AEFDGBCIJ	.	.	.	0.554139045670579	0.70335	5.486381	0.515404544528013	0.69026	5.301851	0.999999996992565	0.74766	0.228283	0.04149	0	0.225491	0.04819	0	0.181291	0.04369	1	0.166187	0.04126	0	0.891219	0.55852	5.0	5.0	0.66209	3.388000	0.52247	9.883000	0.82214	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.601000	0.31412	0.0959:0.0:0.9041:0.0	9.239	0.36647	3	0.99430	Sema domain|Sema domain|Sema domain;Sema domain|Sema domain|Sema domain;.;Sema domain|Sema domain|Sema domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	4580.11	222	chr3	50273405	.	G	C	4580.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.285;DP=1090;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.85;ReadPosRankSum=0.496;SOR=0.640	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1301	19	0	2	0
chr3	50276669	50276669	G	A	exonic	SEMA3B	.	nonsynonymous SNV	SEMA3B:NM_001290062:exon11:c.G1184A:p.R395H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.939	D	0.913	N	.	.	.	.	.	.	-0.357	T	0.371	T	0.158	1.508	10.99	4.38	2.412	1.783	12.615	0.105	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.55341	D	0.998	0.77913	D	0.869	0.67449	P	0.912847	0.08541	N	0.950496	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.26717	-0.3572	0.73345	T	0.371	0.73008	T	7	0.24732205	0.42011	T	.	.	.	.	.	0.279	0.23323	0.383590876969	0.37966	0.28674943076740494	0.28587	.	.	0.753298640251	0.74933	T	0.07164	0.34258	T	0.00542209	0.52399	T	-0.229988	0.51773	T	0.965000212192535	0.67129	D	0.888311	0.61778	D	0.11054497	0.26129	0.14466076	0.34337	0.11054497	0.26128	0.14466076	0.34336	-5.36	0.40910	T	.	.	0.139	0.33016	B	.;.;.;.;.;.	.;.;.;.;.;.	4.283989	0.65277	24.8	0.9100355355246259	0.20253	0.21604	0.21460	N	AEFDBCI	.	.	.	0.079050008245511	0.45485	2.804342	-0.0423019069595837	0.37825	2.220008	0.998860451549067	0.37845	0.287651	0.05010	1	0.096583	0.02683	0	0.25417	0.05116	1	0.085113	0.02366	1	0.698404	0.42826	4.38	4.38	0.52019	2.740000	0.47092	11.542000	0.93137	0.656000	0.54149	0.639000	0.28076	1.000000	0.68203	0.592000	0.31189	0.0:0.0:1.0:0.0	12.615	0.55931	3	0.99430	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	687.98	33	chr3	50276669	.	G	A	687.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.058e+00;DP=743;ExcessHet=0.0000;FS=6.065;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=-7.110e-01;SOR=1.581	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1158	20	0	1	0
chr3	50289579	50289579	T	C	exonic	IFRD2	.	nonsynonymous SNV	IFRD2:NM_006764:exon7:c.A647G:p.Y216C,	.	.	429	1072	20	1	0	22	0.010157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.026	B	0.022	B	0.001	N	0.999	D	1.195	L	-0.12	T	-0.969	T	0.116	T	0.169	-0.182	3.116	2.51	0.621	2.122	8.777	0.138	.	0.0049	0.00239617	0.0071	0.0013	0.0050	0.0004	0.0014	0.0105	0.0078	0.0045	0.0036998	572	154602	rs34364099	0.0058	0.0058	0.0058	0.0059	0.0065	0.0057	0.0057	0.0064	0.0064	0.0008	0.0023	0.0098	7.847e-05	0.0007	0.0064	0.0065	0.0060	0.0045	0.0043	0.0043	0.0045	0.0042	0.0062	0.0041	0.0040	0.0057	0.0055	0.0011	0.0768	0.0029	0.0104	0.0002	0.0007	0.0034	0.0062	0.0047	0.0044	0.183	0.21718	T	0.095	0.39492	T	0.008	0.14655	B	0.009	0.14300	B	0.000747	0.42006	N	0.283664	0.998617	0.45166	D	0.335	0.10427	N	-0.12	0.64630	T	-4.4	0.77308	D	0.11	0.09772	-0.9694	0.37324	T	0.116	0.40942	T	10	0.0038838685	0.00074	T	.	.	.	0.138	0.37187	.	.	0.695661859615	0.69303	0.12998815443157535	0.12923	.	.	0.331011980772	0.15088	T	0.197609	0.55434	T	-0.46194	0.00956	T	-0.432176	0.29688	T	0.0182960750494103	0.00548	T	0.715628	0.32820	T	0.20409873	0.42509	0.18446688	0.41501	0.20409873	0.42509	0.18446688	0.41500	-6.108	0.47174	T	.	.	0.047	0.00109	B	.;.	.;.	1.218396	0.16123	12.33	0.57756060330256087	0.05840	0.36228	0.25485	N	AEFBCI	0.083179	0.16849	N	-0.708489046188582	0.15783	0.7984209	-0.660277316162749	0.17958	0.957195	0.999834550519059	0.43792	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	2.51	0.29435	2.062000	0.41039	0.720000	0.21004	-0.218000	0.08083	0.953000	0.33222	0.168000	0.23319	0.198000	0.21837	0.0:0.7363:0.0:0.2637	8.777	0.33924	3	0.99430	Interferon-related developmental regulator, N-terminal;Interferon-related developmental regulator, N-terminal	.	.	.	.	rs34364099	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1695.98	40	chr3	50289579	.	T	C	1695.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.484;DP=867;ExcessHet=0.0000;FS=1.272;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.08;ReadPosRankSum=-1.216e+00;SOR=0.790	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1265	20	0	1	0
chr3	50295070	50295070	C	T	exonic	HYAL3	.	nonsynonymous SNV	HYAL3:NM_001200029:exon2:c.G533A:p.R178H	.	.	417	1041	59	5	0	69	0.0320781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	U	1.000	D	3.225	M	1.72	T	-0.746	T	0.140	T	0.415	4.073	20.9	2.89	1.218	0.479	9.003	0.250	.	0.0035	0.00539137	0.0053	0.0006	0.0045	0	0	0.0045	0.01	0.0171	0.004877	754	154602	rs139756596	0.0039	0.0039	0.0034	0.0044	0.0178	0.0038	0.0038	0.0170	0.0167	0.0007	0.0040	0.0331	0	7.569e-05	0.0168	0.0024	0.0061	0.0178	0.0032	0.0032	0.0030	0.0034	0.0170	0.0029	0.0028	0.0140	0.0129	0.0006	0	0.0041	0.0331	0	0.0002	0.0102	0.0027	0.0028	0.0170	0.004	0.65419	D	0.029	0.65728	D	1.0	0.90584	D	0.999	0.97372	D	0.000042	0.53742	U	0.069612	0.990805	0.81001	D	3.48	0.92553	M	1.72	0.26588	T	-3.56	0.68880	D	0.299	0.33796	-0.7459	0.58149	T	0.140	0.45922	T	10	0.006772101	0.00154	T	.	.	.	0.250	0.55888	.	.	0.104622674875	0.10061	0.7554816360088094	0.75495	0.737908363262	0.63085	0.288535296917	0.08710	T	0.446394	0.78906	T	-0.423238	0.01632	T	-0.367103	0.37227	T	0.0763690686936043	0.09517	T	0.819918	0.47811	T	0.22886135	0.45613	0.2439974	0.49856	0.22886135	0.45613	0.2439974	0.49855	-7.173	0.55288	T	.	.	0.107	0.22098	B	.;.;.;.	.;.;.;.	3.297172	0.45244	22.1	0.99949030492686874	0.99931	0.33740	0.24901	N	AEFBCI	.	.	.	0.351077098192796	0.58796	4.054184	0.17647269697279	0.48562	3.07037	0.999997892522706	0.74766	0.615465	0.37627	0	0.550933	0.16991	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.74	2.89	0.32713	0.397000	0.20608	1.098000	0.24042	-0.186000	0.09761	0.024000	0.20007	0.869000	0.27571	0.945000	0.48827	0.0:0.8124:0.0:0.1876	9.003	0.35256	3	0.99430	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1539.98	36	chr3	50295070	.	C	T	1539.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.770e-01;DP=798;ExcessHet=0.0000;FS=0.714;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.75;ReadPosRankSum=1.69;SOR=0.581	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1230	20	0	1	0
chr3	50340673	50340673	G	A	exonic	RASSF1	.	stopgain	RASSF1:NM_007182:exon1:c.C133T:p.Q45X	Lung cancer, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.033	N	1.000	A	.	.	.	.	.	.	.	.	.	5.114	32	4.33	1.147	4.270	9.622	.	.	.	0.000798722	0.0008	0	0	0	0	0	0	0.0018	0.000194	30	154602	rs587719322	6.295e-05	7.183e-05	4.299e-05	8.331e-05	0.0010	5.164e-05	4.824e-05	0.0009	0.0008	0	0	0	0	0	0	1.847e-06	3.471e-05	0.0010	5.251e-05	5.249e-05	2.569e-05	8.052e-05	0.0017	2.555e-05	1.828e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	0.032559	0.25014	N	0.382752	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.788	0.78641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24297	0.77942	D	0.551606	0.95683	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	8.409608	0.97531	37	0.99622741762353362	0.75533	0.71622	0.35093	D	AEFDGBHCI	0.183250	0.31057	N	0.686595235228624	0.78753	6.935766	0.534046074958524	0.70295	5.484301	0.999999999999314	0.74766	0.455138	0.09556	0	0.484254	0.07192	0	0.503968	0.08637	0	0.56751	0.32155	0	.	.	5.22	4.33	0.51083	3.873000	0.55806	8.281000	0.76903	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.707000	0.34357	0.0:0.1546:0.6853:0.1601	9.622	0.38894	2	0.99499	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1632.98	35	chr3	50340673	.	G	A	1632.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.901e+00;DP=829;ExcessHet=0.0000;FS=3.177;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=-9.000e-03;SOR=0.733	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1030	20	0	1	0
chr3	50341858	50341858	T	C	exonic	ZMYND10	.	nonsynonymous SNV	ZMYND10:NM_001308379:exon9:c.A1058G:p.Q353R	Ciliary dyskinesia, primary, 22, Autosomal recessive	.	426	1090	6	0	0	6	0.00274474	.	.	239243	Primary_ciliary_dyskinesia_22|Primary_ciliary_dyskinesia|not_provided	MONDO:MONDO:0014192,MedGen:C3809543,OMIM:615444,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.28	T	0.0	B	0.001	B	0.004	N	1.000	N	0	N	.	.	-1.060	T	0.012	T	0.012	0.185	4.995	-2.6	-0.340	1.208	12.954	0.047	.	0.0052	0.00579073	0.0017	0.0165	0.0008	0	0	0.0003	0.0011	0.0002	0.0017205	266	154602	rs114329675	0.0008	0.0008	0.0008	0.0007	0.0202	0.0008	0.0007	0.0189	0.0184	0.0202	0.0014	3.826e-05	0	0	0.0127	0.0002	0.0023	6.957e-05	0.0051	0.0051	0.0052	0.0049	0.0176	0.0048	0.0047	0.0165	0.0161	0.0176	0	0.0009	0	0	0	0	0.0002	0.0047	0	0.283	0.16358	T	0.282	0.22291	T	0.0	0.02946	B	0.0	0.04355	B	0.004225	0.33968	N	0.330852	0.999996	0.08975	N	0.74	0.18910	N	.	.	.	0.13	0.08033	N	0.156	0.21056	-1.0600	0.11756	T	0.012	0.04795	T	9	0.003219515	0.00055	T	.	.	.	0.047	0.12962	.	.	0.0138822411134	0.00435	0.20503829545660798	0.20420	0.172173562126	0.19387	0.227268278599	0.01772	T	0.079417	0.36123	T	-0.693055	0.00040	T	-0.754022	0.03332	T	0.00194585537918871	0.00020	T	0.494051	0.15636	T	0.05064666	0.09181	0.10757778	0.25900	0.060169525	0.12314	0.11334016	0.27351	-2.397	0.05494	T	0.0963831470771077	0.06662	0.054	0.00436	B	.;.	.;.	0.347882	0.07210	3.804	0.56244261017463215	0.05511	0.58399	0.30632	D	AEFBCI	0.245144	0.36613	N	-1.12103000856732	0.06270	0.2881754	-1.06882637179265	0.08319	0.4085287	0.999803060348905	0.43304	0.59774	0.34471	0	0.475579	0.06741	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	5.11	-2.6	0.05830	1.207000	0.31938	-1.979000	0.04399	-0.870000	0.02561	0.999000	0.42656	0.000000	0.08366	0.266000	0.23669	0.0:0.1395:0.0:0.8605	12.954	0.57815	2	0.99499	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1313.98	34	chr3	50341858	.	T	C	1313.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.035e+00;DP=844;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=-1.449e+00;SOR=0.736	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1359	20	0	1	0
chr3	50343823	50343823	C	T	exonic	ZMYND10	.	nonsynonymous SNV	ZMYND10:NM_001308379:exon3:c.G229A:p.A77T	Ciliary dyskinesia, primary, 22, Autosomal recessive	.	426	1089	7	0	0	7	0.00320366	.	.	393851	Primary_ciliary_dyskinesia_22|ZMYND10-related_disorder|Primary_ciliary_dyskinesia	MONDO:MONDO:0014192,MedGen:C3809543,OMIM:615444,Orphanet:244|.|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.28	T	0.005	B	0.003	B	0.368	N	1.000	N	1.245	L	1.58	T	-1.034	T	0.045	T	0.391	2.108	13.00	-3.87	-0.564	0.150	6.740	0.037	0.00712706899412	0.0008	0.000599042	0.0012	0.0004	0.0008	0	0	0.0016	0	0.0011	0.0012484	193	154602	rs146847253	0.0018	0.0018	0.0018	0.0017	0.0038	0.0017	0.0017	0.0026	0.0022	0.0003	0.0006	0	2.519e-05	1.872e-05	0.0038	0.0021	0.0016	0.0011	0.0013	0.0013	0.0013	0.0012	0.0020	0.0011	0.0011	0.0017	0.0016	0.0004	0.0011	0.0019	0	0	0	0.0102	0.0020	0.0019	0.0010	0.338	0.13088	T	0.44	0.13872	T	0.005	0.12996	B	0.002	0.08700	B	0.368104	0.13569	N	0.749043	1	0.08975	N	0.605	0.15622	N	1.58	0.29085	T	-0.59	0.20358	N	0.331	0.37197	-1.0344	0.19046	T	0.045	0.19152	T	10	0.011636406	0.00253	T	0.007127	0.18896	T	0.037	0.09474	.	.	0.156986980423	0.15292	0.09890056742996664	0.09821	0.154575907448	0.17459	0.263797461987	0.05351	T	0.101597	0.40851	T	-0.510755	0.00497	T	-0.513225	0.20984	T	0.00220077275298536	0.00023	T	0.673733	0.29515	T	0.03614178	0.04390	0.05513085	0.09615	0.03614178	0.04390	0.05513085	0.09614	-2.24	0.05501	T	0.09928537317409401	0.07194	0.071	0.05060	B	.;.;.	.;.;.	0.162419	0.05527	1.989	0.74155081437159531	0.10590	0.19053	0.20509	N	AEFDBI	0.109365	0.21725	N	-0.979393416882191	0.09044	0.4264509	-0.972454653425125	0.10407	0.5239344	0.999991219532478	0.74766	0.549168	0.22868	0	0.588066	0.40923	0	0.590023	0.30420	0	0.613276	0.41899	0	.	.	5.41	-3.87	0.03939	0.152000	0.16120	-1.318000	0.05730	-0.806000	0.03109	0.769000	0.29345	0.000000	0.08366	0.312000	0.24784	0.2727:0.1788:0.0:0.5485	6.740	0.22621	2	0.99499	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	855.98	35	chr3	50343823	.	C	T	855.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.281;DP=784;ExcessHet=0.0000;FS=0.974;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.03;ReadPosRankSum=-1.344e+00;SOR=0.869	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,114,1710	20	0	1	0
chr3	50577534	50577534	G	A	exonic	HEMK1	.	nonsynonymous SNV	HEMK1:NM_001317851:exon6:c.G575A:p.R192Q	.	.	420	1093	7	2	0	11	0.00500683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.001	B	0.001	B	0.109	N	1.000	N	-1.445	N	2.59	T	-1.032	T	0.010	T	0.103	0.706	7.765	-0.793	-0.357	-0.445	4.719	0.020	.	0.0091	0.00938498	0.0033	0.0277	0.0033	0.0001	0	0.0009	0	0.0006	0.0032665	505	154602	rs2232250	0.0017	0.0017	0.0018	0.0017	0.0321	0.0017	0.0017	0.0305	0.0298	0.0321	0.0040	0.0023	2.519e-05	0	0.0170	0.0007	0.0045	0.0004	0.0094	0.0095	0.0102	0.0087	0.0310	0.0090	0.0089	0.0296	0.0290	0.0310	0	0.0046	0.0020	0	0	0.0068	0.0007	0.0095	0.0004	0.404	0.10730	T	0.345	0.31326	T	0.001	0.07471	B	0.001	0.04355	B	0.109474	0.19483	N	0.548760	1	0.08975	N	-0.575	0.02294	N	2.59	0.62918	T	0.59	0.02558	N	0.091	0.06990	-1.0320	0.19809	T	0.010	0.03856	T	10	0.0021450818	0.00031	T	.	.	.	0.020	0.03691	.	.	0.341696514166	0.33777	0.32096688471079987	0.32009	0.158631535098	0.17909	0.285642117262	0.08291	T	0.041534	0.25890	T	-0.591459	0.00164	T	-0.599369	0.12864	T	0.00329256507389762	0.00035	T	0.423358	0.61998	T	0.01599901	0.00170	0.023275299	0.00342	0.01599901	0.00170	0.023275299	0.00342	-3.394	0.14976	T	.	.	0.079	0.10931	B	.;.;.;.	.;.;.;.	0.309243	0.06842	3.373	0.87978704248646156	0.17625	0.12030	0.17016	N	AEFDGBCI	0.035244	0.04504	N	-1.31211764640399	0.03535	0.1580976	-1.22492366298539	0.05512	0.2628246	0.999999944982321	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.04	-0.793	0.10370	-0.610000	0.05724	0.779000	0.21463	-0.244000	0.07312	0.601000	0.27755	0.572000	0.25577	0.329000	0.25179	0.4368:0.1574:0.4058:0.0	4.719	0.12291	10	0.99061	Methyltransferase small domain;Methyltransferase small domain;Methyltransferase small domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	968.98	38	chr3	50577534	.	G	A	968.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.506;DP=801;ExcessHet=0.0000;FS=0.778;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.42;ReadPosRankSum=1.15;SOR=0.590	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1410	20	0	1	0
chr3	51715262	51715262	G	A	exonic	GRM2	.	nonsynonymous SNV	GRM2:NM_001349116:exon3:c.G355A:p.A119T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.83	T	0.001	B	0.001	B	0.002	N	1.000	N	-1.49	N	-2.51	D	-0.783	T	0.146	T	0.024	-0.584	1.378	0.107	0.025	1.777	3.120	0.183	0.0601321390621	.	0.000599042	0.0003	0.0001	0	0.0040	0	0	0.0012	0	0.0002587	40	154602	rs199514469	7.073e-05	7.182e-05	7.372e-05	6.77e-05	0.0020	5.936e-05	5.543e-05	0.0016	0.0015	2.993e-05	0	0	0.0020	0	0	8.118e-06	0.0002	1.17e-05	0.0002	0.0002	0.0002	0.0002	0.0031	0.0001	0.0001	0.0019	0.0016	0.0002	0	0.0002	0	0.0031	0	0	4.41e-05	0	0	1.0	0.00964	T	0.669	0.06325	T	0.001	0.07471	B	0.001	0.04355	B	0.001610	0.38497	N	0.287924	1	0.08975	N	-1.925	0.00229	N	-2.51	0.89293	D	1.16	0.01136	N	0.092	0.07125	-0.7833	0.56115	T	0.146	0.47038	T	10	0.011984825	0.00259	T	0.060132	0.67899	D	0.183	0.45592	.	.	0.184605227958	0.18053	0.36521975968277925	0.36435	0.540505989267	0.51242	0.388336360455	0.23436	T	0.153778	0.49478	T	-0.531596	0.00376	T	-0.532093	0.19079	T	0.00896020389046705	0.00112	T	0.556144	0.19298	T	0.055308573	0.10732	0.044562824	0.05802	0.055308573	0.10732	0.044562824	0.05802	-4.426	0.29907	T	.	.	0.079	0.07318	B	.	.	0.839058	0.12109	8.659	0.38335217302895974	0.02579	0.27982	0.23428	N	AEFBI	0.099370	0.20005	N	-1.00676955614303	0.08462	0.3968842	-0.81627219124035	0.14102	0.7350812	0.069530655151558	0.15493	0.614807	0.35715	0	0.588015	0.36545	0	0.616094	0.41390	0	0.613276	0.41899	0	.	.	5.17	0.107	0.13849	1.461000	0.34866	0.562000	0.19521	-0.154000	0.11915	0.086000	0.22486	0.027000	0.21108	0.549000	0.30150	0.2103:0.1308:0.5439:0.1151	3.120	0.06003	8	0.99202	GPCR, family 3, nine cysteines domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2164.98	35	chr3	51715262	.	G	A	2164.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.907;DP=854;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.36;ReadPosRankSum=-2.330e-01;SOR=0.655	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,104,1393	20	0	1	0
chr3	51944495	51944495	C	T	exonic	PARP3	.	nonsynonymous SNV	PARP3:NM_001003931:exon4:c.C418T:p.R140W	.	.	422	1097	3	0	0	3	0.0013655	.	.	2365172	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	0.997	D	3.88	H	2.03	T	-0.333	T	0.227	T	0.855	1.874	12.23	2.38	0.175	0.075	15.957	0.413	0.0440982866314	0.0013	0.000199681	0.0007	0.0004	8.64e-05	0.0001	0	0.0010	0	0.0007	0.0007244	112	154602	rs201155006	0.0011	0.0011	0.0010	0.0011	0.0014	0.0010	0.0010	0.0012	0.0012	0.0001	0.0002	3.826e-05	0.0001	1.874e-05	0.0014	0.0012	0.0012	0.0008	0.0008	0.0008	0.0009	0.0006	0.0015	0.0007	0.0006	0.0013	0.0012	0.0002	0	6.534e-05	0	0	0	0.0034	0.0015	0.0005	0.0010	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.996703	0.43365	D	3.845	0.95734	H	2.03	0.20959	T	-6.6	0.94377	D	0.825	0.82057	-0.3330	0.74046	T	0.227	0.59221	T	10	0.17308825	0.32118	T	0.044098	0.61317	D	0.413	0.72404	.	.	0.680807706874	0.67809	0.8413697464088792	0.84096	0.384340615699	0.39735	0.51115167141	0.40383	T	0.118227	0.43889	T	-0.157734	0.27110	T	-0.0183643	0.69136	D	0.224244453547549	0.21673	T	0.893711	0.63503	D	0.74227446	0.80422	0.48678634	0.70298	0.74227446	0.80424	0.48678634	0.70299	-9.243	0.69248	D	.	.	0.172	0.42244	B	.;.;.;.	.;.;.;.	2.337589	0.29950	18.29	0.99768949782139627	0.85750	0.17462	0.19848	N	AEFDBI	0.453681	0.50671	N	-0.00293879338005637	0.41722	2.500746	-0.263754736763977	0.29302	1.640545	0.99969418524919	0.41870	0.706548	0.73137	0	0.724815	0.89359	0	0.577349	0.28860	0	0.755437	0.99637	0	.	.	5.23	2.38	0.28415	0.090000	0.14865	-0.144000	0.11487	-0.223000	0.07921	0.097000	0.22731	0.000000	0.08366	0.019000	0.11356	0.6395:0.3605:0.0:0.0	15.957	0.79688	266	0.89551	WGR domain|WGR domain;WGR domain|WGR domain;.;WGR domain|WGR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1671.98	41	chr3	51944495	.	C	T	1671.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.55;DP=948;ExcessHet=0.0000;FS=8.252;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.58;ReadPosRankSum=1.70;SOR=0.972	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,118,1628	20	0	1	0
chr3	51958198	51958198	C	T	exonic	PCBP4	.	nonsynonymous SNV	PCBP4:NM_020418:exon13:c.G946A:p.G316S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.999	D	0.144	N	1.000	D	0.255	N	1.37	T	-0.963	T	0.122	T	0.804	5.088	31	5.13	2.403	6.048	17.391	0.194	0.0318864786923	7.7e-05	.	8.293e-06	0	0	0	0	1.506e-05	0	0	6.5e-06	1	154602	rs146951120	6.846e-07	1.368e-06	1.362e-06	0	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.25457	T	0.117	0.36365	T	1.0	0.90584	D	0.998	0.88582	D	0.144283	0.18183	N	0.533478	1	0.81001	D	1.995	0.54099	M	1.2	0.37405	T	-1.33	0.38345	N	0.564	0.63289	-0.9627	0.38664	T	0.122	0.42399	T	9	0.4627394	0.59384	T	0.031886	0.53858	D	0.194	0.47447	.	.	0.491112125781	0.48745	0.5299313296349659	0.52917	1.28013305572	0.82499	0.810192286968	0.83522	D	0.029878	0.21310	T	0.100401	0.64336	D	-0.0935576	0.63892	T	0.830192565917969	0.48545	D	0.925008	0.72455	D	0.10606424	0.25080	0.12615275	0.30385	0.10606424	0.25080	0.12615275	0.30384	-3.192	0.14035	T	.	.	0.183	0.39630	B	.;.;.;.;.	.;.;.;.;.	5.107830	0.85376	28.6	0.99853341213444613	0.93279	0.98412	0.82510	D	AEFBI	.	.	.	0.367314317873173	0.59661	4.147249	0.451751670155274	0.64830	4.747378	0.999999999999995	0.74766	0.706548	0.73137	0	0.723109	0.82256	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.13	5.13	0.69729	6.170000	0.71810	7.638000	0.63056	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	17.391	0.87323	263	0.89692	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1204.98	36	chr3	51958198	.	C	T	1204.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=817;ExcessHet=0.0000;FS=3.993;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.54;ReadPosRankSum=1.79;SOR=0.711	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1047	20	0	1	0
chr3	51958893	51958893	G	A	exonic	PCBP4	.	nonsynonymous SNV	PCBP4:NM_020418:exon12:c.C691T:p.H231Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.99	D	0.915	D	0.000	D	1.000	D	0.915	L	1.52	T	-0.997	T	0.124	T	0.471	4.826	27.4	5.12	2.360	9.860	18.158	0.305	0.0134518418199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.46513	T	0.553	0.11515	T	0.969	0.56768	D	0.715	0.54683	P	0.000002	0.62929	D	0.059528	0.999985	0.54805	D	1.515	0.38264	L	1.52	0.30669	T	-0.88	0.32991	N	0.583	0.61256	-0.9967	0.30838	T	0.124	0.42694	T	10	0.32623082	0.49923	T	0.013452	0.32862	T	0.305	0.62620	.	.	0.393623145366	0.38971	0.4235174097411285	0.42268	1.20970672204	0.80796	0.777694761753	0.78581	T	0.043426	0.26496	T	-0.0557747	0.43564	T	-0.317893	0.42805	T	0.80117872843794	0.46433	D	0.954005	0.82493	D	0.20958991	0.43231	0.17919762	0.40639	0.20958991	0.43231	0.17919762	0.40638	-9.414	0.70323	D	.	.	0.199	0.51174	B	.;.;.;.;.;.	.;.;.;.;.;.	4.883306	0.80103	27.2	0.99720286312766515	0.81984	0.98998	0.89743	D	AEFDGBI	0.936381	0.93263	D	0.466250762734697	0.65131	4.784052	0.510404943732494	0.68690	5.254826	1.0	0.98316	0.67177	0.52595	0	0.723109	0.82256	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	5.12	5.12	0.69459	9.994000	0.99266	11.767000	0.95766	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.158	0.89632	261	0.89765	K Homology domain, type 1|K Homology domain;.;K Homology domain, type 1|K Homology domain;K Homology domain, type 1|K Homology domain;.;K Homology domain, type 1|K Homology domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1687.98	162	chr3	51958893	.	G	A	1687.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.270e-01;DP=874;ExcessHet=0.0000;FS=1.246;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.42;ReadPosRankSum=-1.152e+00;SOR=0.841	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr3	51980891	51980891	T	G	exonic	ABHD14A	.	nonsynonymous SNV	ABHD14A:NM_015407:exon5:c.T689G:p.L230R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.997	D	0.967	D	0.001	N	1.000	D	2.305	M	1.86	T	-0.920	T	0.154	T	0.619	1.665	11.53	5.41	2.056	4.048	13.687	0.099	0.120629486262	0.0033	0.00159744	0.0022	0.0006	0.0028	0	0.0006	0.0033	0	0.0001	0.0021863	338	154602	rs34149506	0.0036	0.0036	0.0038	0.0035	0.0043	0.0036	0.0035	0.0042	0.0042	0.0007	0.0036	0.0039	0	0.0004	0.0012	0.0043	0.0035	0.0001	0.0026	0.0026	0.0030	0.0023	0.0041	0.0024	0.0023	0.0037	0.0036	0.0012	0	0.0033	0.0040	0	0.0003	0	0.0041	0.0033	0	0.084	0.32929	T	0.1	0.39492	T	0.997	0.70673	D	0.967	0.71530	D	0.001295	0.39521	N	0.174780	1	0.81001	D	1.325	0.33218	L	1.86	0.24285	T	-4.4	0.77308	D	0.627	0.76111	-0.9201	0.45540	T	0.154	0.48412	T	10	0.007946104	0.00180	T	0.120629	0.80121	D	0.331	0.65325	.	.	0.413503789086	0.40968	0.7961541521886043	0.79568	0.801848852689	0.66287	0.462418675423	0.33642	T	0.053913	0.29577	T	-0.47582	0.00783	T	-0.453924	0.27263	T	0.0311500292964689	0.02170	T	0.768923	0.39853	T	0.44093218	0.63462	0.45287392	0.68176	0.44093218	0.63463	0.45287392	0.68177	-8.499	0.64423	D	.	.	0.183	0.39664	B	.;.	.;.	4.123282	0.61646	24.4	0.83215713755770793	0.14604	0.97525	0.75317	D	AEFBI	0.852827	0.76975	D	0.585638061304109	0.72278	5.780577	0.55264155527804	0.71581	5.676735	0.999999685462327	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	5.41	5.41	0.78313	4.061000	0.57199	7.834000	0.70237	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.0:0.0:0.0:1.0	13.687	0.61999	173	0.93306	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1007.98	36	chr3	51980891	.	T	G	1007.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.050e-01;DP=813;ExcessHet=0.0000;FS=2.530;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.51;ReadPosRankSum=0.076;SOR=0.763	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1260	20	0	1	0
chr3	51993843	51993843	-	CCTTGG	exonic	RPL29	.	nonframeshift insertion	RPL29:NM_000992:exon4:c.385_386insCCAAGG:p.K130_D131insAK,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	9890.36	23	chr3	51993837	.	TCCTTGG	TCCTTGGCCTTGG,T	9890.36	.	AC=10,8;AF=0.250,0.200;AN=40;BaseQRankSum=0.471;DP=604;ExcessHet=4.5531;FS=11.809;InbreedingCoeff=-0.2121;MLEAC=10,8;MLEAF=0.250,0.200;MQ=57.96;MQRankSum=0.00;QD=24.85;ReadPosRankSum=-3.600e-02;SOR=1.183	GT:AD:DP:GQ:PL	0/0:34,0,0:34:99:0,99,1267,99,1267,1267	5	0	8	1
chr3	52199248	52199248	A	G	exonic	ALAS1	.	nonsynonymous SNV	ALAS1:NM_001304443:exon2:c.A7G:p.S3G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.064	B	0.077	B	0.002	N	1.000	N	0.345	N	-4.55	D	0.182	D	0.728	D	0.047	2.563	14.53	4.86	1.813	5.337	9.400	0.404	0.0956133726745	0.0022	0.00159744	0.0004	0.0045	8.651e-05	0	0	0	0.0011	6.061e-05	0.0004269	66	154602	rs150932815	0.0002	0.0002	0.0002	0.0002	0.0053	0.0002	0.0002	0.0047	0.0044	0.0053	0.0004	0	0	0	0.0002	2.878e-05	0.0006	4.637e-05	0.0014	0.0014	0.0014	0.0013	0.0045	0.0012	0.0011	0.0040	0.0038	0.0045	0	0.0009	0	0	0	0	5.882e-05	0.0009	0	0.011	0.55530	D	0.119	0.36101	T	0.005	0.12996	B	0.016	0.17743	B	0.001665	0.38326	N	0.289300	0.999944	0.19238	N	0.695	0.17993	N	-4.55	0.97753	D	-1.36	0.33798	N	0.118	0.11483	0.182	0.85609	D	0.728	0.90690	D	10	0.006792456	0.00154	T	0.095613	0.76458	D	0.404	0.71714	.	.	0.743182372233	0.74087	0.2434379850244407	0.24257	0.199415716933	0.22337	0.639546215534	0.58500	T	0.378883	0.74176	T	-0.304859	0.08209	T	-0.209457	0.53746	T	0.0319073891757056	0.02290	T	0.732927	0.34859	T	0.12308582	0.28910	0.12964271	0.31168	0.12308582	0.28910	0.12964271	0.31168	-4.164	0.26228	T	.	.	0.078	0.06990	B	.;.;.;.	.;.;.;.	3.570519	0.50282	22.9	0.99405193313866991	0.62981	0.89008	0.49222	D	AEFDGBIJ	0.685269	0.64733	D	-0.109667468273484	0.36970	2.144362	0.0767028443693293	0.43380	2.640917	0.999999896099146	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.00508	0.00061	3	.	.	4.86	4.86	0.62624	5.533000	0.66873	9.135000	0.78888	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.913000	0.44837	0.9084:0.0:0.0916:0.0	9.400	0.37589	232	0.90957	5-aminolevulinate synthase presequence;5-aminolevulinate synthase presequence;5-aminolevulinate synthase presequence;5-aminolevulinate synthase presequence	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1652.98	43	chr3	52199248	.	A	G	1652.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.021e+00;DP=871;ExcessHet=0.0000;FS=1.319;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=0.040;SOR=0.564	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1416	20	0	1	0
chr3	52221530	52221530	C	T	exonic	TLR9	.	nonsynonymous SNV	TLR9:NM_017442:exon2:c.G2786A:p.G929D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.768	P	0.524	P	0.065	N	0.775	N	0.895	L	3.21	T	-0.994	T	0.094	T	0.491	2.358	13.84	3.7	1.315	0.093	10.645	0.063	0.0398847708698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	2.052e-06	1.363e-06	2.753e-06	3.478e-05	5.5e-07	1.5e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.22486	T	0.408	0.14633	T	0.768	0.43819	P	0.524	0.48342	P	0.065482	0.21877	N	0.331465	0.775	0.29391	N	1.415	0.35607	L	3.21	0.07125	T	-0.44	0.14588	N	0.236	0.26596	-0.9944	0.31459	T	0.094	0.35524	T	10	0.304399	0.47965	T	0.039885	0.59065	D	0.063	0.18251	0.471	0.54537	0.600825740518	0.59764	0.7506626966059605	0.75013	1.14260233996	0.78981	0.509956002235	0.40216	T	0.049047	0.28194	T	-0.173547	0.24699	T	-0.487064	0.23698	T	0.298262307070348	0.24932	T	0.864914	0.56300	D	0.093324624	0.21917	0.12687534	0.30551	0.093324624	0.21916	0.12687534	0.30551	-11.37	0.81648	D	.	.	0.158	0.34970	B	.	.	3.090093	0.41606	21.4	0.98665088957205238	0.44386	0.09359	0.15131	N	AEFDBI	0.123038	0.23846	N	-0.176254798385561	0.34126	1.944068	-0.154408157303547	0.33240	1.899299	0.998796398470899	0.37689	0.706548	0.73137	0	0.724815	0.89359	0	0.578056	0.29568	0	0.567339	0.31927	0	.	.	5.51	3.7	0.41607	0.018000	0.13315	2.427000	0.32714	0.549000	0.26987	0.001000	0.13787	0.983000	0.30585	0.981000	0.58702	0.0:0.8381:0.0:0.1619	10.645	0.44807	163	0.93656	Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3060.98	33	chr3	52221530	.	C	T	3060.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.110;DP=1016;ExcessHet=0.0000;FS=2.265;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=0.689;SOR=0.882	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1269	20	0	1	0
chr3	52247197	52247197	T	A	exonic	PPM1M	.	nonsynonymous SNV	PPM1M:NM_144641:exon3:c.T566A:p.I189N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.979	D	0.953	D	0.011	N	1.000	D	2.105	M	2.37	T	-1.033	T	0.100	T	0.389	4.425	23.5	4.35	1.813	3.651	12.238	0.154	0.0165499268516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.957	0.59044	D	0.72	0.69275	P	0.011467	0.29519	N	0.248012	0.995921	0.81001	D	2.015	0.55033	M	2.37	0.15964	T	-4.14	0.75220	D	0.677	0.68690	-1.0333	0.19395	T	0.100	0.37162	T	10	0.5878318	0.66211	D	0.01655	0.37860	T	0.154	0.40340	0.451	0.51285	0.276898752692	0.27294	.	.	.	.	0.482504665852	0.36402	T	0.023423	0.23055	T	-0.101987	0.36095	T	-0.384274	0.35222	T	0.975767970085144	0.71078	D	0.959104	0.84591	D	0.7740984	0.82294	0.6451691	0.79256	0.7740984	0.82296	0.6451691	0.79257	.	.	.	.	.	0.362	0.60318	A	.;.	.;.	4.876030	0.79927	27.2	0.99387251116345343	0.62157	0.90737	0.52166	D	AEFDGBCI	0.529485	0.55057	D	0.512336727447001	0.67819	5.132691	0.468000648592122	0.65880	4.880138	0.999999999703847	0.74766	0.660085	0.49399	0	0.662677	0.63036	0	0.654045	0.52621	0	0.662433	0.64102	0	.	.	4.35	4.35	0.51454	3.348000	0.51923	7.845000	0.70699	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.912000	0.44740	0.0:0.0:0.0:1.0	12.238	0.53838	138	0.94518	PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain;PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1072.98	34	chr3	52247197	.	T	A	1072.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.144e+00;DP=802;ExcessHet=0.0000;FS=0.785;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=0.064;SOR=0.789	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1316	20	0	1	0
chr3	52293014	52293014	A	G	exonic	GLYCTK	.	nonsynonymous SNV	GLYCTK:NM_145262:exon5:c.A1460G:p.N487S,	D-glyceric aciduria, Autosomal recessive	.	0	1514	8	0	0	8	0.00263505	.	.	246951	not_provided|not_specified|D-Glyceric_aciduria	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009070,MedGen:C0342765,OMIM:220120,Orphanet:941	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.187	B	0.192	B	0.000	N	1.000	D	1.765	L	0.38	T	-0.990	T	0.141	T	0.13	1.816	12.03	2.48	0.828	4.376	9.02	0.129	0.0422751941063	.	.	0.0004	0	0.0003	0	0	0.0004	0	0.0010	0.0003234	50	154602	rs767047161	0.0003	0.0003	0.0003	0.0003	0.0139	0.0003	0.0003	0.0114	0.0105	0.0002	0.0004	0.0005	0	1.873e-05	0.0139	0.0002	0.0009	0.0006	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0	0	0.0004	0.0006	0	0	0	0.0003	0.0009	0.0004	0.047	0.40319	D	0.097	0.39190	T	0.187	0.29285	B	0.192	0.36449	B	0.000002	0.62929	N	0.098721	0.995804	0.81001	D	2.13	0.59329	M	0.38	0.57575	T	-4.34	0.76822	D	0.22	0.24634	-0.9900	0.32601	T	0.141	0.46128	T	9	0.19232413	0.34956	T	0.042275	0.60377	D	0.129	0.35316	.	.	0.733223214259	0.73084	0.8208690277399036	0.82043	0.398029042616	0.40875	0.409190148115	0.26344	T	0.595963	0.86980	D	-0.402303	0.02236	T	-0.439811	0.28830	T	0.0983960704637639	0.12179	T	0.854015	0.53996	D	0.21738926	0.44221	0.19266301	0.42794	0.21738926	0.44221	0.19266301	0.42793	-7.605	0.58346	D	0.2640431350870357	0.35615	0.090	0.12465	B	.	.	2.087421	0.26551	17.16	0.96395010098195777	0.29668	0.91535	0.53733	D	AEFDGBHCI	0.749270	0.69076	D	-0.246931970390723	0.31225	1.748818	-0.150568729686512	0.33387	1.90925	0.999997238413112	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.22	2.48	0.29194	4.368000	0.59276	1.816000	0.29002	-0.041000	0.17446	1.000000	0.71638	0.492000	0.25158	0.987000	0.62547	0.7647:0.0:0.2353:0.0	9.02	0.35355	85	0.96447	MOFRL domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2511.98	34	chr3	52293014	.	A	G	2511.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.366;DP=920;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=0.647;SOR=0.660	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr3	52344587	52344587	C	T	exonic	DNAH1	.	nonsynonymous SNV	DNAH1:NM_015512:exon9:c.C1384T:p.P462S,	.	.	.	.	.	.	.	.	.	.	.	698204	DNAH1-related_disorder|Spermatogenic_failure_18|Ciliary_dyskinesia,_primary,_37	.|MONDO:MONDO:0054615,MedGen:C4539783,OMIM:617576|MONDO:MONDO:0033204,MedGen:C4539798,OMIM:617577	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.46	T	0.93	P	0.84	P	0.000	D	1.000	D	2.51	M	1.9	T	-0.931	T	0.153	T	0.411	2.355	13.83	5.04	2.337	6.541	18.367	0.176	0.0229136152385	0.0014	0.00139776	0.0004	0.0053	8.7e-05	0	0	0	0.0011	6.102e-05	0.0003946	61	154602	rs201341419	0.0002	0.0002	0.0002	0.0001	0.0056	0.0001	0.0001	0.0050	0.0047	0.0056	0.0003	0	0	0	0.0002	8.994e-07	0.0005	3.478e-05	0.0013	0.0013	0.0014	0.0012	0.0043	0.0011	0.0011	0.0038	0.0036	0.0043	0	0.0010	0	0	0	0	1.47e-05	0.0009	0	0.229	0.18371	T	0.375	0.16231	T	.	.	.	.	.	.	0.000100	0.51296	D	0.000000	0.999997	0.58761	D	.	.	.	1.9	0.23486	T	-4.06	0.74582	D	0.592	0.61172	-0.9315	0.43918	T	0.153	0.48188	T	10	0.0058451295	0.00130	T	0.022914	0.45849	T	0.176	0.44373	.	.	0.416707687347	0.41290	0.36134383317790886	0.36048	0.15444136996	0.17448	0.521597743034	0.41851	T	.	.	.	-0.411801	0.01934	T	-0.362658	0.37745	T	0.0871014889583181	0.10870	T	0.759324	0.38363	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.40441	B	.	.	3.528214	0.49492	22.8	0.99489398759340275	0.67347	0.97311	0.73954	D	AEFBI	0.623611	0.60749	D	0.397894355747845	0.61307	4.330076	0.393029129094129	0.61134	4.309457	0.999999981964794	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.04	5.04	0.67293	6.639000	0.74170	7.592000	0.61280	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.428000	0.27405	0.0:1.0:0.0:0.0	18.367	0.90339	81	0.96616	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1559.98	33	chr3	52344587	.	C	T	1559.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.030e-01;DP=817;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=0.434;SOR=0.736	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1307	20	0	1	0
chr3	52346503	52346503	G	A	exonic	DNAH1	.	nonsynonymous SNV	DNAH1:NM_015512:exon11:c.G1688A:p.S563N,	.	.	.	.	.	.	.	.	.	.	.	698205	DNAH1-related_disorder|Spermatogenic_failure_18|Ciliary_dyskinesia,_primary,_37	.|MONDO:MONDO:0054615,MedGen:C4539783,OMIM:617576|MONDO:MONDO:0033204,MedGen:C4539798,OMIM:617577	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.38	T	0.001	B	0.003	B	0.094	N	0.797	N	1.04	L	1.91	T	-1.031	T	0.037	T	0.033	0.529	6.867	1.8	0.074	1.199	5.486	0.044	0.00518775586216	0.0014	0.00139776	0.0005	0.0062	0.0001	0	0	0	0.0014	7.184e-05	0.000401	62	154602	rs137937801	0.0002	0.0002	0.0002	0.0001	0.0057	0.0001	0.0001	0.0050	0.0048	0.0057	0.0003	0	0	0	0.0002	8.998e-07	0.0005	3.488e-05	0.0013	0.0013	0.0014	0.0012	0.0043	0.0011	0.0011	0.0038	0.0036	0.0043	0	0.0010	0	0	0	0	1.47e-05	0.0009	0	0.527	0.07093	T	0.495	0.11371	T	.	.	.	.	.	.	0.094348	0.20177	N	0.415062	0.797381	0.29155	N	.	.	.	1.91	0.23283	T	-0.71	0.20145	N	0.199	0.21969	-1.0307	0.20227	T	0.037	0.15943	T	10	0.0050469637	0.00109	T	0.005188	0.13218	T	0.044	0.11924	.	.	0.154104182512	0.14974	0.20960119001568053	0.20876	0.115579249378	0.13036	0.436621785164	0.30116	T	.	.	.	-0.654657	0.00068	T	-0.711504	0.05219	T	0.00214018928848679	0.00022	T	0.509849	0.16238	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.15385	B	.	.	0.873863	0.12466	9.001	0.55923953878162314	0.05444	0.68832	0.33952	D	AEFDGBI	0.118486	0.23166	N	-0.765771810069293	0.14209	0.7059298	-0.624626821770243	0.18861	1.009459	0.999724752130815	0.42220	0.660377	0.49826	0	0.694456	0.67091	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.57	1.8	0.24069	1.257000	0.32536	3.947000	0.40646	-0.729000	0.03740	0.998000	0.41325	1.000000	0.68203	0.641000	0.32449	0.2738:0.2567:0.4695:0.0	5.486	0.16044	81	0.96616	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1145.98	35	chr3	52346503	.	G	A	1145.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.780e-01;DP=822;ExcessHet=0.0000;FS=0.790;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=0.505;SOR=0.550	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr3	52370511	52370511	G	A	exonic	DNAH1	.	nonsynonymous SNV	DNAH1:NM_015512:exon40:c.G6293A:p.R2098H,	.	.	434	1087	1	0	0	1	0.00045977	.	.	452953	Spermatogenic_failure_18|Ciliary_dyskinesia,_primary,_37|DNAH1-related_disorder|not_provided|Primary_ciliary_dyskinesia	MONDO:MONDO:0054615,MedGen:C4539783,OMIM:617576|MONDO:MONDO:0033204,MedGen:C4539798,OMIM:617577|.|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.22	T	0.002	B	0.002	B	0.018	N	1.000	N	0.35	N	1.87	T	-1.038	T	0.035	T	0.11	0.352	5.909	3.72	1.130	2.996	10.301	0.027	0.00399438843683	0.0002	.	0.0003	0.0001	0.0003	0	0	0.0004	0	0.0001	0.000194	30	154602	rs373906923	0.0002	0.0002	0.0002	0.0002	0.0045	0.0002	0.0002	0.0032	0.0027	0.0002	0.0003	0.0021	0	0	0.0045	0.0001	0.0004	8.115e-05	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	9.233e-05	7.907e-05	5.993e-05	2.406e-05	0	0.0001	0.0023	0	0	0	0.0001	0.0014	0	0.282	0.15406	T	0.19	0.28482	T	.	.	.	.	.	.	0.018330	0.27508	N	0.257589	0.999988	0.18198	N	.	.	.	1.87	0.24085	T	-1.8	0.42384	N	0.209	0.23253	-1.0375	0.18078	T	0.035	0.15117	T	10	0.020444632	0.00471	T	0.003994	0.09462	T	0.027	0.05988	.	.	0.229924730088	0.22615	0.3147806881512615	0.31391	0.15590108407	0.17597	0.288566231728	0.08715	T	.	.	.	-0.47583	0.00783	T	-0.619552	0.11221	T	0.0214011054486036	0.00843	T	0.771723	0.40231	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.16538	B	.	.	2.673364	0.34861	19.74	0.81713927501707229	0.13823	0.73185	0.35802	D	AEFGBI	0.176379	0.30358	N	-0.494394326367777	0.22264	1.187572	-0.372375048052936	0.25824	1.422546	0.881710019106949	0.25637	0.615465	0.37627	0	0.588066	0.40923	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.61	3.72	0.41857	3.904000	0.56038	4.976000	0.46431	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.278000	0.23967	0.1686:0.0:0.8314:0.0	10.301	0.42831	72	0.96948	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2280.98	36	chr3	52370511	.	G	A	2280.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.868;DP=864;ExcessHet=0.0000;FS=1.181;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=-8.290e-01;SOR=0.802	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1248	20	0	1	0
chr3	52372236	52372236	A	G	exonic	DNAH1	.	nonsynonymous SNV	DNAH1:NM_015512:exon43:c.A6676G:p.I2226V,	.	.	416	1093	13	0	0	13	0.00591178	.	.	453247	not_provided|Spermatogenic_failure_18|Ciliary_dyskinesia,_primary,_37	MedGen:C3661900|MONDO:MONDO:0054615,MedGen:C4539783,OMIM:617576|MONDO:MONDO:0033204,MedGen:C4539798,OMIM:617577	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.005	B	0.015	B	0.001	U	0.976	D	-0.765	N	2.33	T	-0.959	T	0.008	T	0.156	-0.728	0.882	1.88	0.213	1.351	5.862	0.017	.	0.0062	0.00199681	0.0059	0.0010	0.0014	0	0.0076	0.0079	0.0079	0.0059	0.0057632	891	154602	rs112505934	0.0071	0.0071	0.0071	0.0072	0.0079	0.0070	0.0070	0.0078	0.0077	0.0011	0.0024	0.0062	0	0.0063	0.0033	0.0079	0.0073	0.0058	0.0053	0.0053	0.0053	0.0053	0.0083	0.0050	0.0049	0.0077	0.0075	0.0012	0.0429	0.0027	0.0061	0.0002	0.0057	0	0.0083	0.0014	0.0046	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.000781	0.41888	U	0.000000	0.976029	0.39239	D	.	.	.	2.33	0.16492	T	0.15	0.05310	N	0.274	0.31027	-0.9585	0.39461	T	0.008	0.02842	T	10	0.011133552	0.00245	T	.	.	.	0.017	0.02790	.	.	0.132336055621	0.12781	0.28984887749406174	0.28897	0.10357624358	0.11719	0.292885124683	0.09345	T	.	.	.	-0.603439	0.00139	T	-0.63261	0.10218	T	3.5456228943076e-05	0.00000	T	0.820118	0.47860	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.01491	B	.	.	0.837653	0.12093	8.645	0.68054314344574773	0.08541	0.67016	0.33281	D	AEFDGBI	0.141527	0.26373	N	-0.847241378410047	0.12117	0.5887538	-0.647784528518466	0.18273	0.9754083	0.64026108865765	0.22047	0.706298	0.61202	0	0.709663	0.81188	0	0.578056	0.29568	0	0.59522	0.37078	0	.	.	4.36	1.88	0.24630	0.910000	0.28193	0.019000	0.13561	-0.113000	0.14837	0.997000	0.40164	0.000000	0.08366	0.834000	0.39329	0.7456:0.1671:0.0873:0.0	5.862	0.18004	72	0.96948	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1735.98	33	chr3	52372236	.	A	G	1735.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.942e+00;DP=819;ExcessHet=0.0000;FS=2.232;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=1.30;SOR=0.905	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1187	20	0	1	0
chr3	52375988	52375988	G	A	exonic	DNAH1	.	nonsynonymous SNV	DNAH1:NM_015512:exon46:c.G7193A:p.R2398H,	.	.	423	1093	6	0	0	6	0.00273723	.	.	452963	not_provided|Spermatogenic_failure_18|Ciliary_dyskinesia,_primary,_37	MedGen:C3661900|MONDO:MONDO:0054615,MedGen:C4539783,OMIM:617576|MONDO:MONDO:0033204,MedGen:C4539798,OMIM:617577	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.12	T	0.317	B	0.014	B	0.546	N	1.000	N	0	N	1.88	T	-1.048	T	0.033	T	0.189	4.815	27.3	4.46	1.109	2.960	12.678	0.054	0.00610339067667	0.0029	0.000599042	0.0018	0.0005	0.0012	0.0001	0	0.0027	0	0.0015	0.0020181	312	154602	rs201299120	0.0039	0.0039	0.0040	0.0038	0.0047	0.0038	0.0038	0.0046	0.0045	0.0007	0.0015	0.0002	2.528e-05	0.0001	0.0019	0.0047	0.0043	0.0015	0.0024	0.0024	0.0025	0.0022	0.0036	0.0022	0.0021	0.0032	0.0031	0.0008	0.0429	0.0020	0	0.0004	0.0005	0	0.0036	0.0005	0.0006	0.098	0.30800	T	0.066	0.44501	T	.	.	.	.	.	.	0.546381	0.11482	N	0.730499	0.999922	0.19486	N	.	.	.	1.88	0.23884	T	-0.72	0.20358	N	0.368	0.40963	-1.0477	0.15045	T	0.033	0.14117	T	10	0.0056172013	0.00125	T	0.006103	0.15964	T	0.054	0.15330	.	.	0.235038932564	0.23097	0.31096875564354204	0.31009	0.15590108407	0.17597	0.444694519043	0.31219	T	.	.	.	-0.55727	0.00263	T	-0.571751	0.15290	T	0.0209391951873376	0.00795	T	0.577942	0.20808	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12276	B	.	.	4.509627	0.70607	25.5	0.99737461346258605	0.83264	0.58311	0.30608	D	AEFDGBHCI	0.205466	0.33182	N	-0.391399962707931	0.25773	1.401675	-0.223096695330567	0.30710	1.731484	0.999975435784979	0.50053	0.615465	0.37627	0	0.633656	0.55848	0	0.616487	0.41570	0	0.620976	0.48614	0	.	.	4.46	4.46	0.53567	3.008000	0.49231	5.725000	0.49491	-0.174000	0.10959	0.997000	0.40164	1.000000	0.68203	0.914000	0.44937	0.0:0.8335:0.1665:0.0	12.678	0.56274	72	0.96948	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1093.98	34	chr3	52375988	.	G	A	1093.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.740e-01;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.94;ReadPosRankSum=-1.071e+00;SOR=0.668	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1176	20	0	1	0
chr3	52386735	52386735	A	C	exonic	DNAH1	.	nonsynonymous SNV	DNAH1:NM_015512:exon56:c.A8885C:p.K2962T,	.	.	427	1091	4	0	0	4	0.00182983	.	.	452976	Spermatogenic_failure_18|Ciliary_dyskinesia,_primary,_37|not_provided|DNAH1-related_disorder	MONDO:MONDO:0054615,MedGen:C4539783,OMIM:617576|MONDO:MONDO:0033204,MedGen:C4539798,OMIM:617577|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.984	D	0.907	P	0.007	N	1.000	D	3.045	M	-0.87	T	0.349	D	0.599	D	0.478	4.334	22.8	4.16	1.754	7.096	13.384	0.515	0.135071693243	0.0007	.	0.0010	0.0003	0.0011	0	0	0.0017	0.0035	0.0002	0.0003881	60	154602	rs199602894	0.0004	0.0004	0.0004	0.0004	0.0070	0.0004	0.0003	0.0053	0.0047	0.0010	0.0008	0.0020	0	3.876e-05	0.0070	0.0003	0.0009	0.0001	0.0005	0.0005	0.0004	0.0005	0.0017	0.0004	0.0004	0.0012	0.0010	0.0002	0	0.0017	0.0023	0	9.418e-05	0	0.0004	0.0019	0	0.005	0.63226	D	0.076	0.42614	T	.	.	.	.	.	.	0.006766	0.31811	N	0.215153	0.999997	0.58761	D	.	.	.	-0.87	0.74583	T	-5.37	0.84882	D	0.499	0.53181	0.349	0.88329	D	0.599	0.85705	D	10	0.07671729	0.12018	T	0.135072	0.81752	D	0.515	0.79279	.	.	0.617178876719	0.61408	0.7006252848366341	0.70003	0.598721334752	0.55030	0.737116992474	0.72548	T	.	.	.	-0.14962	0.28370	T	-0.0963179	0.63681	T	0.104490758152325	0.12843	T	0.927507	0.73308	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.553	0.66910	A	.	.	4.130966	0.61814	24.4	0.99746767877117237	0.83927	0.98649	0.85128	D	AEFI	0.768303	0.70391	D	0.699202303297942	0.79581	7.107781	0.611464249342642	0.75770	6.369918	0.999992688431181	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.16	4.16	0.48138	7.299000	0.78160	5.461000	0.48672	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	13.384	0.60227	70	0.97015	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1437.98	40	chr3	52386735	.	A	C	1437.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.940e-01;DP=814;ExcessHet=0.0000;FS=0.725;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.44;ReadPosRankSum=0.833;SOR=0.609	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	20	0	1	0
chr3	52392627	52392627	G	A	exonic	DNAH1	.	nonsynonymous SNV	DNAH1:NM_015512:exon64:c.G10216A:p.V3406I,	.	.	359	1145	16	2	0	20	0.00865801	.	.	452667	Spermatogenic_failure_18|Ciliary_dyskinesia,_primary,_37|not_provided	MONDO:MONDO:0054615,MedGen:C4539783,OMIM:617576|MONDO:MONDO:0033204,MedGen:C4539798,OMIM:617577|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.996	D	0.987	D	0.000	D	0.997	D	1.88	L	0.6	T	-0.392	T	0.311	T	0.345	3.529	18.01	4.5	2.345	3.972	17.374	0.191	0.0207977319322	0.0022	0.000798722	0.0031	0.0002	0.0025	0	0.0007	0.0034	0.0026	0.0060	0.0025808	399	154602	rs201752275	0.0028	0.0028	0.0027	0.0029	0.0082	0.0027	0.0027	0.0063	0.0056	0.0006	0.0030	0.0024	5.04e-05	0.0003	0.0082	0.0028	0.0037	0.0055	0.0019	0.0019	0.0016	0.0021	0.0046	0.0017	0.0016	0.0037	0.0034	0.0003	0	0.0046	0.0046	0	0	0.0102	0.0023	0.0038	0.0037	0.028	0.46129	D	0.051	0.47828	T	.	.	.	.	.	.	0.000045	0.53742	D	0.000000	0.997306	0.43782	D	.	.	.	0.6	0.53731	T	-0.59	0.17624	N	0.462	0.49874	-0.3923	0.72269	T	0.311	0.68121	T	10	0.011325091	0.00248	T	0.020798	0.43464	T	0.191	0.46948	.	.	0.617553467032	0.61445	0.5765351129843146	0.57582	0.443457838412	0.44272	0.422725081444	0.28211	T	.	.	.	-0.396013	0.02459	T	-0.340255	0.40316	T	0.0170417205810395	0.00452	T	0.929807	0.74042	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.32153	B	.	.	3.441245	0.47869	22.5	0.99767462866848722	0.85583	0.84598	0.43681	D	AEFDI	0.254721	0.37398	N	0.550914154922702	0.70138	5.457689	0.524477752706873	0.69640	5.389526	0.983722070684218	0.30605	0.706298	0.61202	0	0.709663	0.81188	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	4.5	4.5	0.54382	3.487000	0.52986	8.727000	0.78176	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	17.374	0.87277	69	0.97055	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1435.98	34	chr3	52392627	.	G	A	1435.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.074;DP=810;ExcessHet=0.0000;FS=2.418;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=-5.960e-01;SOR=0.634	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr3	52396759	52396759	A	C	exonic	DNAH1	.	nonsynonymous SNV	DNAH1:NM_015512:exon72:c.A11572C:p.K3858Q,	.	.	.	.	.	.	.	.	.	.	.	698221	DNAH1-related_disorder|Spermatogenic_failure_18|Ciliary_dyskinesia,_primary,_37	.|MONDO:MONDO:0054615,MedGen:C4539783,OMIM:617576|MONDO:MONDO:0033204,MedGen:C4539798,OMIM:617577	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.873	P	0.466	P	0.000	D	0.950	D	0.875	L	3.1	T	-1.048	T	0.017	T	0.26	0.475	6.576	4.34	1.824	1.799	10.248	0.093	0.00521088195977	0.0015	0.00159744	0.0005	0.0054	8.643e-05	0	0	0	0.0011	6.078e-05	0.000414	64	154602	rs186366418	0.0002	0.0002	0.0002	0.0001	0.0057	0.0001	0.0001	0.0050	0.0048	0.0057	0.0003	0	0	0	0.0002	8.994e-07	0.0005	3.478e-05	0.0013	0.0013	0.0014	0.0012	0.0043	0.0011	0.0011	0.0037	0.0035	0.0043	0	0.0010	0	0	0	0	1.47e-05	0.0009	0	0.211	0.19569	T	0.196	0.27943	T	.	.	.	.	.	.	0.000001	0.84330	D	0.000000	0.949766	0.37666	D	.	.	.	3.1	0.08283	T	-1.46	0.35792	N	0.233	0.26233	-1.0475	0.15102	T	0.017	0.07045	T	10	0.009002477	0.00204	T	0.005211	0.13279	T	0.093	0.26882	.	.	0.27479166964	0.27093	0.521573206832978	0.52080	0.158691904084	0.17914	0.424867331982	0.28507	T	.	.	.	-0.549925	0.00292	T	-0.561201	0.16264	T	0.0184574754071888	0.00562	T	0.851115	0.53499	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.17530	B	.	.	2.679433	0.34951	19.77	0.79354679505455339	0.12704	0.48138	0.28140	N	AEFBCI	0.115131	0.22650	N	-0.153884001609759	0.35069	2.009722	-0.0516205351973261	0.37420	2.190751	0.983822673573952	0.30620	0.634777	0.41761	0	0.643519	0.57511	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.34	4.34	0.51267	0.936000	0.28536	7.884000	0.72673	0.691000	0.84096	0.685000	0.28485	1.000000	0.68203	0.970000	0.54328	0.6943:0.3057:0.0:0.0	10.248	0.42527	68	0.97118	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2347.98	44	chr3	52396759	.	A	C	2347.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.42;DP=956;ExcessHet=0.0000;FS=1.719;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=0.172;SOR=0.576	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr3	52435925	52435925	G	T	exonic	SEMA3G	.	nonsynonymous SNV	SEMA3G:NM_020163:exon16:c.C2027A:p.A676D,	.	.	415	1090	16	1	0	18	0.00818926	.	.	3199364	SEMA3G-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.54	T	0.081	B	0.066	B	0.001	N	1.000	N	2.005	M	-1.31	T	-0.687	T	0.413	T	0.488	0.544	6.942	4.71	2.451	1.478	13.860	0.346	0.0515469133001	0.0019	0.000798722	0.0026	0.0002	0.0022	0	0.0006	0.0029	0.0022	0.0055	0.0025291	391	154602	rs149805640	0.0028	0.0028	0.0026	0.0029	0.0081	0.0027	0.0027	0.0063	0.0056	0.0006	0.0029	0.0024	5.038e-05	0.0003	0.0081	0.0027	0.0037	0.0055	0.0019	0.0019	0.0016	0.0021	0.0046	0.0017	0.0016	0.0037	0.0034	0.0003	0	0.0046	0.0046	0	0	0.0102	0.0023	0.0038	0.0037	0.474	0.08384	T	0.509	0.10857	T	0.081	0.24602	B	0.066	0.27432	B	0.001044	0.40475	N	0.156351	1	0.08975	N	1.975	0.53506	M	-1.31	0.79666	T	-0.79	0.21860	N	0.131	0.12627	-0.6867	0.61062	T	0.413	0.76081	T	10	0.0064661503	0.00146	T	0.051547	0.64705	D	0.346	0.66769	.	.	0.722918377869	0.72047	0.6304994316280946	0.62983	0.559114294219	0.52467	0.519995212555	0.41626	T	0.031853	0.22228	T	-0.31175	0.07595	T	-0.219217	0.52811	T	0.0256077404468672	0.01352	T	0.633137	0.24745	T	0.17525576	0.38374	0.19189392	0.42674	0.17525576	0.38374	0.19189392	0.42673	-5.651	0.43255	T	.	.	0.139	0.30450	B	.	.	2.734235	0.35793	19.99	0.92604600904607093	0.22068	0.16604	0.19465	N	AEFDBI	0.257935	0.37657	N	-0.445058434009325	0.23908	1.287209	-0.422965203171445	0.24325	1.331397	0.999963371953726	0.48965	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.71	4.71	0.59010	1.330000	0.33387	7.364000	0.58360	0.676000	0.76740	0.003000	0.16062	1.000000	0.68203	0.976000	0.56436	0.0:0.1996:0.8003:0.0	13.860	0.63052	68	0.97118	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1293.98	38	chr3	52435925	.	G	T	1293.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.908e+00;DP=804;ExcessHet=0.0000;FS=3.730;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=0.749;SOR=0.418	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1092	20	0	1	0
chr3	52478230	52478230	A	G	exonic	NISCH	.	nonsynonymous SNV	NISCH:NM_001276293:exon10:c.A1121G:p.H374R	.	.	435	1077	9	1	0	11	0.00508083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.867	P	0.316	B	0.018	N	0.601	D	0.03	N	2.03	T	-1.036	T	0.025	T	0.174	3.426	17.59	4.6	1.023	3.771	11.447	0.048	.	.	0.0071885	0.0045	9.612e-05	0.0003	0	0	2.998e-05	0.0022	0.0326	0.0039133	605	154602	rs201701090	0.0020	0.0020	0.0011	0.0030	0.0327	0.0020	0.0019	0.0317	0.0313	0.0001	0	0	0.0001	0	0.0024	6.295e-06	0.0017	0.0327	0.0010	0.0010	0.0006	0.0015	0.0319	0.0009	0.0008	0.0278	0.0262	2.405e-05	0	0	0	0	0	0	0	0	0.0319	0.188	0.24758	T	0.004	0.74150	D	0.867	0.47667	P	0.316	0.41603	B	0.017595	0.27685	N	0.423566	0.601193	0.32540	D	0.33	0.10399	N	2.03	0.20959	T	-1.39	0.41809	N	0.285	0.32259	-1.0357	0.18637	T	0.025	0.10866	T	10	0.0060735345	0.00136	T	.	.	.	0.048	0.13305	.	.	0.158540857583	0.15491	0.3443667779522323	0.34350	0.551776475164	0.52012	0.538968145847	0.44299	T	0.087693	0.37997	T	-0.548048	0.00300	T	-0.534942	0.18797	T	0.0534320323896949	0.06093	T	0.862414	0.65783	D	0.071406044	0.15807	0.09340457	0.22061	0.071406044	0.15807	0.09340457	0.22061	-7.808	0.59754	D	.	.	0.155	0.34227	B	.;.;.;.	.;.;.;.	3.201921	0.43545	21.8	0.99405091485288777	0.62981	0.87917	0.47625	D	AEFGBCI	0.355319	0.44709	N	-0.106391836500444	0.37113	2.154653	0.0541745912165487	0.42275	2.554097	0.994534152253947	0.33682	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.74	4.6	0.56512	3.777000	0.55071	7.131000	0.57624	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.9299:0.0:0.0701:0.0	11.447	0.49374	72	0.96948	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2024.98	34	chr3	52478230	.	A	G	2024.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.730e-01;DP=915;ExcessHet=0.0000;FS=2.504;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.71;ReadPosRankSum=-1.297e+00;SOR=0.611	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	20	0	1	0
chr3	52487749	52487749	A	G	exonic	NISCH	.	nonsynonymous SNV	NISCH:NM_007184:exon16:c.A2257G:p.I753V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.15	B	0.019	B	0.006	N	1.000	N	0.345	N	3.32	T	-0.986	T	0.011	T	0.315	2.284	13.59	4.16	2.022	2.800	7.984	0.050	0.00279735045398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.19361	T	0.132	0.34477	T	0.15	0.27995	B	0.019	0.18783	B	0.006028	0.32324	N	0.339185	0.99873	0.21949	N	0.425	0.12573	N	3.32	0.06214	T	-0.24	0.10833	N	0.204	0.24510	-0.9855	0.33711	T	0.011	0.04134	T	10	0.10483506	0.19347	T	0.002797	0.05840	T	0.050	0.13987	0.223	0.14665	0.193917141947	0.19028	0.2201109267842847	0.21927	0.356583982339	0.37398	0.555441260338	0.46625	T	0.058508	0.30862	T	-0.198028	0.21090	T	-0.52223	0.20068	T	0.178079292178154	0.19113	T	0.623938	0.24053	T	0.02545984	0.01487	0.042591594	0.05107	0.02545984	0.01486	0.042591594	0.05107	-3.028	0.10486	T	.	.	0.170	0.42678	B	.;.	.;.	2.465828	0.31770	18.84	0.99371491919624333	0.61455	0.73236	0.35826	D	AEFDBCI	0.352075	0.44496	N	-0.138440277730803	0.35728	2.055899	0.0485417247188367	0.42001	2.532959	0.780644773517117	0.23836	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.3	4.16	0.48138	2.601000	0.45912	7.004000	0.57207	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.8458:0.0:0.1542:0.0	7.984	0.29364	75	0.96833	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02632	148.72	144	chr3	52487749	.	A	G	148.72	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.760e+00;DP=1367;ExcessHet=0.0000;FS=163.184;InbreedingCoeff=-0.0500;MLEAC=1;MLEAF=0.026;MQ=60.00;MQRankSum=0.00;QD=1.00;ReadPosRankSum=1.64;SOR=7.613	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	18	0	1	2
chr3	52487938	52487938	A	G	exonic	NISCH	.	nonsynonymous SNV	NISCH:NM_007184:exon16:c.A2446G:p.M816V,	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.015	B	0.005	B	0.035	N	1.000	N	-0.205	N	3.3	T	-0.927	T	0.008	T	0.249	1.312	10.30	0.878	0.317	1.349	7.692	0.038	0.00688532994246	.	0.000199681	1.685e-05	0	0	0	0	0	0	0.0001	2.59e-05	4	154602	rs543513978	6.85e-06	6.84e-06	2.727e-06	1.102e-05	0.0001	3.46e-06	2.53e-06	5.395e-05	4.042e-05	0	0	0	0	0	0	8.993e-07	0	0.0001	1.316e-05	1.313e-05	1.287e-05	1.347e-05	0.0004	2.19e-06	8.2e-07	7.324e-05	3.041e-05	0	0	0	0	0	0	0	0	0	0.0004	0.469	0.08508	T	0.253	0.23501	T	0.015	0.17086	B	0.005	0.11217	B	0.034701	0.24738	N	0.474446	0.975664	0.25420	N	-0.345	0.03330	N	3.3	0.06368	T	-0.63	0.18459	N	0.223	0.25253	-0.9275	0.44502	T	0.008	0.02801	T	10	0.04497215	0.03514	T	0.006885	0.18205	T	0.038	0.09825	0.187	0.09646	0.200294437569	0.19612	0.3756205951108476	0.37476	0.433384082707	0.43495	0.47547775507	0.35434	T	0.069419	0.33706	T	-0.376412	0.03282	T	-0.574867	0.15006	T	0.0269995156949302	0.01544	T	0.644736	0.25622	T	0.03171753	0.03062	0.056754854	0.10197	0.03171753	0.03062	0.056754854	0.10197	-1.879	0.02755	T	.	.	0.081	0.09868	B	.;.	.;.	1.295172	0.16964	12.87	0.94284897018725011	0.24582	0.77515	0.38121	D	AEFDBCI	0.182554	0.30988	N	-0.587683497738792	0.19317	1.010083	-0.41274194299052	0.24623	1.349381	0.235619066850328	0.18515	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.04	0.878	0.18285	1.641000	0.36812	0.594000	0.19852	0.756000	0.94297	1.000000	0.71638	0.863000	0.27509	0.921000	0.45669	0.6681:0.26:0.0719:0.0	7.692	0.27739	75	0.96833	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	984.98	75	chr3	52487938	.	A	G	984.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.889e+00;DP=1123;ExcessHet=0.0000;FS=6.385;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.95;ReadPosRankSum=1.17;SOR=0.773	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	20	0	1	0
chr3	52492357	52492357	G	A	exonic	NISCH	.	nonsynonymous SNV	NISCH:NM_007184:exon21:c.G4390A:p.G1464S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.307	B	0.031	B	0.044	N	1.000	D	0.55	N	3.22	T	-1.037	T	0.012	T	0.407	2.639	14.78	4.49	2.535	3.509	5.087	0.052	0.00842049434707	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1166000318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.568e-06	6.566e-06	1.284e-05	0	6.543e-05	0	0	.	.	0	0	6.543e-05	0	0	0	0	0	0	0	0.192	0.20988	T	0.219	0.25987	T	0.307	0.32716	B	0.031	0.21939	B	0.043832	0.23700	N	0.453330	0.552476	0.32144	D	-0.345	0.03330	N	3.22	0.07024	T	-0.93	0.24898	N	0.101	0.08366	-1.0370	0.18233	T	0.012	0.04558	T	10	0.118682295	0.22443	T	0.00842	0.22282	T	0.052	0.14661	0.176	0.08257	0.259504319725	0.25562	0.20353279088494128	0.20270	1.25351651058	0.81861	0.399515002966	0.25000	T	0.059506	0.31133	T	-0.160149	0.26738	T	-0.467819	0.25751	T	0.858990728855133	0.50959	D	0.773923	0.40554	T	0.0852464	0.19765	0.07067802	0.15045	0.0852464	0.19764	0.07067802	0.15044	-3.678	0.18994	T	.	.	0.098	0.17060	B	.;.	.;.	3.565120	0.50180	22.9	0.98865492285056678	0.47545	0.90752	0.52194	D	AEFDBI	0.220611	0.34534	N	-0.0691117748420782	0.38753	2.275	0.10037400512614	0.44569	2.736075	0.999989230221593	0.51787	0.722319	0.85440	0	0.702456	0.74545	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	5.37	4.49	0.54177	4.071000	0.57275	8.613000	0.77777	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.736000	0.35301	0.2883:0.0:0.7117:0.0	5.087	0.14019	84	0.96491	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1732.98	41	chr3	52492357	.	G	A	1732.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=818;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.99;ReadPosRankSum=-6.450e-01;SOR=0.656	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1344	20	0	1	0
chr3	52519524	52519524	C	G	exonic	STAB1	.	nonsynonymous SNV	STAB1:NM_015136:exon50:c.C5195G:p.A1732G,	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	0.549	N	2.775	M	-3.01	D	0.648	D	0.763	D	0.128	4.108	21.2	5.05	2.504	3.197	11.455	0.398	.	0.0078	0.00559105	0.0019	0.0214	0.0005	0	0	0	0	0.0001	0.0018046	279	154602	rs79269239	0.0007	0.0007	0.0009	0.0005	0.0261	0.0007	0.0007	0.0247	0.0241	0.0261	0.0010	0	0	0	0.0002	7.194e-06	0.0016	4.637e-05	0.0066	0.0066	0.0066	0.0065	0.0228	0.0062	0.0061	0.0216	0.0211	0.0228	0	0.0029	0	0	0	0.0068	2.94e-05	0.0014	0	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.549063	0.31349	N	3.145	0.88303	M	-3.01	0.92208	D	-3.52	0.68412	D	0.474	0.50958	0.648	0.92524	D	0.763	0.91949	D	10	0.009762168	0.00219	T	.	.	.	0.398	0.71242	.	.	0.904890730844	0.90394	0.7682538435714594	0.76774	0.75013627348	0.63726	0.447132259607	0.31552	T	0.348674	0.71663	T	-0.276883	0.11000	T	-0.152246	0.59044	T	0.0737526934623684	0.09168	T	0.80292	0.44963	T	0.8573494	0.87885	0.6824219	0.81334	0.8573494	0.87886	0.6824219	0.81335	-9.666	0.71888	D	.	.	0.256	0.49098	B	.	.	4.017825	0.59316	24.1	0.99461791315822234	0.65840	0.80456	0.40089	D	AEFDGBCI	0.481741	0.52291	N	0.500231548449858	0.67106	5.037359	0.348579232723479	0.58421	4.012594	0.999999973548548	0.74766	0.67177	0.52595	0	0.547309	0.14657	0	0.607795	0.38427	0	0.711	0.71501	0	.	.	5.05	5.05	0.67566	5.058000	0.64127	7.407000	0.58615	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.016000	0.10718	0.0:0.9134:0.0:0.0866	11.455	0.49421	83	0.96533	FAS1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1244.98	42	chr3	52519524	.	C	G	1244.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.249;DP=858;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=0.910;SOR=0.736	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1117	20	0	1	0
chr3	52746802	52746802	G	A	exonic	NEK4	.	nonsynonymous SNV	NEK4:NM_001193533:exon8:c.C1342T:p.R448W	.	.	.	.	.	.	.	.	.	.	.	2448285	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.786	P	0.229	B	0.000	D	0.869	N	2.255	M	2.27	T	-0.675	T	0.262	T	0.191	1.419	10.68	-0.251	0.015	0.155	3.671	0.067	0.0554642479614	.	.	8.238e-06	0	0	0.0001	0	0	0	0	1.29e-05	2	154602	rs377177784	2.531e-05	2.531e-05	2.45e-05	2.613e-05	0.0002	1.868e-05	1.631e-05	6.511e-05	4.449e-05	0	4.472e-05	0	0.0002	0	0	1.889e-05	6.624e-05	4.638e-05	1.973e-05	1.971e-05	2.571e-05	1.347e-05	0.0002	5.25e-06	2.46e-06	.	.	0	0	6.551e-05	0	0.0002	0	0	1.47e-05	0	0	0.0	0.91255	D	0.002	0.79402	D	0.12	0.44460	B	0.027	0.38155	B	0.000076	0.52346	D	0.000000	0.868519	0.28244	N	1.975	0.53506	M	2.27	0.75911	T	-3.98	0.77061	D	0.227	0.29081	-0.6748	0.61611	T	0.262	0.63307	T	10	0.17551365	0.32487	T	0.055464	0.66244	D	0.067	0.19503	0.188	0.09776	0.729145954359	0.72674	0.25017898902043684	0.24931	0.148983051585	0.16801	0.408049046993	0.26187	T	0.119104	0.44040	T	-0.205738	0.19983	T	-0.351777	0.39000	T	0.359744668006897	0.27399	T	0.890411	0.62654	D	0.4041745	0.61020	0.2255773	0.47507	0.4041745	0.61021	0.2255773	0.47506	-6.113	0.47215	T	.	.	0.133	0.52929	B	.;.;.;.	.;.;.;.	2.484311	0.32044	18.92	0.96320744528310576	0.29413	0.52409	0.29125	D	AEFDGBI	0.204081	0.33055	N	-0.513525861383494	0.21643	1.150039	-0.550086924620015	0.20805	1.122538	2.68771257709041E-4	0.06244	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	-0.251	0.12361	0.041000	0.13813	4.342000	0.43061	-0.105000	0.15698	0.252000	0.24869	1.000000	0.68203	0.803000	0.37862	0.3772:0.0:0.2651:0.3577	3.671	0.07809	29	0.98227	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1141.98	33	chr3	52746802	.	G	A	1141.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=811;ExcessHet=0.0000;FS=2.407;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.76;ReadPosRankSum=0.354;SOR=0.865	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1449	20	0	1	0
chr3	52784356	52784356	C	T	exonic	ITIH1	.	nonsynonymous SNV	ITIH1:NM_001166435:exon7:c.C422T:p.P141L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.979	D	0.001	D	1.000	D	2.305	M	-1.68	D	0.432	D	0.708	D	0.607	5.172	32	5.19	2.709	4.058	18.512	0.512	0.165746574973	.	0.000998403	0.0004	0	0	0	0	4.527e-05	0	0.0028	0.0003493	54	154602	rs572622802	0.0001	0.0001	8.168e-05	0.0002	0.0020	0.0001	0.0001	0.0018	0.0017	0	0	0	2.519e-05	0	0	1.169e-05	6.623e-05	0.0020	6.565e-05	6.561e-05	3.854e-05	9.399e-05	0.0019	3.514e-05	2.614e-05	0.0010	0.0007	0	0	0	0	0	0	0	1.47e-05	0	0.0019	0.014	0.53172	D	0.235	0.48594	T	1.0	0.90584	D	0.979	0.74454	D	0.000503	0.43753	D	0.241003	0.999953	0.52396	D	2.815	0.81989	M	-1.68	0.82897	D	-3.82	0.71997	D	0.57	0.59308	0.432	0.89578	D	0.708	0.89969	D	10	0.024979323	0.00707	T	0.165747	0.84454	D	0.512	0.79094	0.598	0.72862	0.889944089641	0.88886	0.6457499296368994	0.64509	0.668619433952	0.59308	0.451307237148	0.32122	T	0.429576	0.77833	T	-0.217458	0.18342	T	-0.0903773	0.64133	T	0.356545239686966	0.27274	T	0.978802	0.92599	D	0.53712845	0.69235	0.25791636	0.51517	0.53712845	0.69236	0.25791636	0.51516	-7.802	0.66433	D	.	.	0.366	0.57610	A	.;.	.;.	5.100797	0.85226	28.5	0.99918523240592194	0.98586	0.86973	0.46378	D	AEFGBI	0.889329	0.82330	D	0.532172334715116	0.69005	5.295811	0.470011272961341	0.66011	4.896963	0.999999999914415	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.19	5.19	0.71428	3.649000	0.54157	7.671000	0.64778	0.549000	0.26987	0.076000	0.22236	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.512	0.90869	33	0.98110	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1941.98	33	chr3	52784356	.	C	T	1941.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=876;ExcessHet=0.0000;FS=1.241;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=0.257;SOR=0.581	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr3	52825968	52825968	G	A	exonic	ITIH4	.	nonsynonymous SNV	ITIH4:NM_001166449:exon6:c.C677T:p.P226L	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.956	P	0.545	P	0.268	N	1.000	N	2.195	M	-1.2	T	-0.564	T	0.398	T	0.222	2.210	13.35	2.12	0.125	1.541	4.850	0.201	0.0920307741713	.	.	8.249e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs750048478	8.209e-06	8.209e-06	2.723e-06	1.375e-05	0.0001	4.38e-06	3.46e-06	7.997e-05	6.236e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.011	0.64786	D	0.956	0.54666	P	0.545	0.49043	P	0.268173	0.15180	N	0.620056	1	0.08975	N	2.34	0.67151	M	-1.2	0.78537	T	-5.69	0.87300	D	0.155	0.18512	-0.5635	0.66270	T	0.398	0.75002	T	10	0.18412921	0.33772	T	0.092031	0.75816	D	0.201	0.48592	0.407	0.44066	0.795460141236	0.79356	0.37529849061475085	0.37443	0.291704677138	0.31578	0.225026205182	0.01620	T	0.778353	0.94126	D	-0.207065	0.19794	T	-0.332557	0.41183	T	0.302371437582827	0.25102	T	0.771723	0.40231	T	0.059889156	0.12225	0.11036187	0.26609	0.059889156	0.12224	0.11036187	0.26609	-7.404	0.56933	T	0.3568143283102216	0.45360	0.078	0.06942	B	.;.;.	.;.;.	2.711319	0.35441	19.90	0.98427161241463079	0.41354	0.12075	0.17044	N	AEFBI	0.408330	0.48005	N	-0.369999637312249	0.26543	1.449466	-0.497161894644444	0.22232	1.206534	0.999876937781125	0.44625	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.98	2.12	0.26372	1.444000	0.34679	3.409000	0.38177	-0.212000	0.08331	0.008000	0.17931	0.532000	0.25368	0.903000	0.43903	0.165:0.0:0.5296:0.3054	4.850	0.12895	91	0.96221	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2225.98	42	chr3	52825968	.	G	A	2225.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.080e-01;DP=862;ExcessHet=0.0000;FS=2.927;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.55;ReadPosRankSum=-4.900e-01;SOR=0.468	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1245	20	0	1	0
chr3	52897437	52897437	G	A	exonic	STIMATE;STIMATE-MUSTN1	.	nonsynonymous SNV	STIMATE-MUSTN1:NM_001198974:exon1:c.C14T:p.A5V	.	.	402	1107	12	1	0	14	0.00628366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.019	B	0.007	B	0.717	U	1.000	N	1.1	L	.	.	-1.015	T	0.078	T	0.206	2.828	15.42	1.59	0.191	0.397	8.140	0.050	0.110924970811	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1471661472	3.998e-05	3.899e-05	2.766e-05	5.281e-05	0.0014	3.09e-05	2.793e-05	0.0007	0.0005	0	9.919e-05	0	0	3.275e-05	0.0014	3.201e-05	0.0001	3.135e-05	3.949e-05	3.94e-05	6.431e-05	1.348e-05	8.83e-05	1.718e-05	1.131e-05	3.765e-05	2.577e-05	0	0	0	0	0	0	0	8.83e-05	0	0	0.033	0.44358	D	0.148	0.32675	T	0.005	0.17989	B	0.004	0.12992	B	0.717024	0.09966	U	0.855532	1	0.08975	N	.	.	.	.	.	.	-0.43	0.14390	N	0.1	0.13341	-1.0154	0.25207	T	0.078	0.31103	T	9	0.07762456	0.12273	T	0.110925	0.78850	D	0.050	0.13987	0.129	0.03412	0.128874641272	0.12493	0.6944985929170117	0.71643	1.6529612223	0.89812	0.843341231346	0.88604	D	0.01019	0.09221	T	-0.222267	0.17684	T	-0.302002	0.44514	T	0.11052779853344	0.13478	T	0.713629	0.32527	T	0.046445187	0.07774	0.10611412	0.25522	0.046445187	0.07774	0.10611412	0.25521	-4.539	0.31395	T	.	.	0.113	0.22354	B	.;.	.;.	1.606961	0.20540	14.80	0.99781930766642957	0.86867	0.18644	0.20344	N	ALL	0.051739	0.09171	N	-0.890029274780518	0.11079	0.532735	-0.91569996026726	0.11723	0.5990192	0.999999999775655	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.65	1.59	0.22622	0.725000	0.25638	2.635000	0.33717	0.668000	0.69082	0.035000	0.20724	0.668000	0.26052	0.006000	0.07323	0.0907:0.2993:0.6101:0.0	8.140	0.30236	139	0.94486	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	784.98	34	chr3	52897437	.	G	A	784.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.060e-01;DP=780;ExcessHet=0.0000;FS=1.003;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=0.588;SOR=0.967	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr3	53192216	53192216	G	A	exonic	PRKCD	.	nonsynonymous SNV	PRKCD:NM_001354676:exon18:c.G2038A:p.A680T	Autoimmune lymphoproliferative syndrome, type III, Autosomal recessive	.	0	224	2	0	0	2	0.00444444	.	.	519641	Autoimmune_lymphoproliferative_syndrome,_type_III_caused_by_mutation_in_PRKCD|not_provided	MONDO:MONDO:8000024,MedGen:C3809928,OMIM:615559,Orphanet:3261|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.18	T	0.216	B	0.042	B	0.372	N	1.000	N	1.65	L	0.4	T	-1.023	T	0.110	T	0.208	0.413	6.244	1.09	0.013	0.553	5.496	0.040	0.0370086485431	7.7e-05	0.000199681	5.766e-05	9.612e-05	0	0	0.0005	4.495e-05	0	0	5.17e-05	8	154602	rs149202171	6.499e-05	6.498e-05	7.214e-05	5.775e-05	0.0009	5.428e-05	5.041e-05	0.0003	0.0002	0.0005	0	0	0	0.0002	0.0009	4.676e-05	9.934e-05	3.478e-05	4.599e-05	4.594e-05	0	9.406e-05	0.0004	2.109e-05	1.527e-05	7.29e-05	3.029e-05	7.225e-05	0	0	0	0	9.443e-05	0	1.47e-05	0	0.0004	0.099	0.30656	T	0.612	0.07642	T	0.216	0.30161	B	0.042	0.24114	B	0.372308	0.13509	N	0.746982	1	0.08975	N	1.245	0.31408	L	0.4	0.57261	T	-0.28	0.11547	N	0.073	0.05162	-1.0229	0.22769	T	0.110	0.39723	T	10	0.06635514	0.09088	T	0.037009	0.57349	D	0.040	0.10527	.	.	0.528917257038	0.52539	0.5314265747859575	0.53067	0.983416448727	0.73821	0.330139040947	0.14955	T	0.137951	0.47118	T	-0.298387	0.08812	T	-0.510023	0.21312	T	0.0150590536821841	0.00325	T	0.845715	0.52486	T	0.023147728	0.01030	0.042178694	0.04962	0.023147728	0.01030	0.042178694	0.04962	-6.133	0.47379	T	.	.	.	.	.	.;.	.;.	0.728776	0.10979	7.642	0.94068580495903931	0.24209	0.14252	0.18304	N	AEFDGBCI	0.144418	0.26737	N	-0.950201903332971	0.09687	0.4596009	-1.01593997445553	0.09435	0.4693683	0.999981555782797	0.51787	0.706298	0.61202	0	0.601644	0.50151	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.06	1.09	0.19517	0.287000	0.18678	-0.161000	0.11322	-0.148000	0.12190	0.000000	0.06391	0.000000	0.08366	0.057000	0.15750	0.0761:0.3963:0.3918:0.1358	5.496	0.16093	466	0.78352	Protein kinase, C-terminal|AGC-kinase, C-terminal|AGC-kinase, C-terminal|Novel protein kinase C delta, catalytic domain;Protein kinase, C-terminal|AGC-kinase, C-terminal|AGC-kinase, C-terminal|Novel protein kinase C delta, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1915.98	33	chr3	53192216	.	G	A	1915.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.080e-01;DP=859;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=0.816;SOR=0.671	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,998	20	0	1	0
chr3	53233167	53233167	C	T	exonic	TKT	.	nonsynonymous SNV	TKT:NM_001064:exon6:c.G737A:p.R246Q	Short stature, developmental delay, and congenital heart defects, Autosomal recessive	.	431	1065	25	1	0	27	0.0125174	.	.	698251	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.981	D	0.333	B	0.000	D	1.000	D	0.445	N	1.95	T	-1.129	T	0.029	T	0.36	3.707	18.83	5.9	2.788	4.110	7.731	0.119	0.0146851353604	0.0032	0.00179712	0.0030	0.0010	0.0022	0	0.0002	0.0037	0.0022	0.0047	0.003053	472	154602	rs139694567	0.0043	0.0043	0.0043	0.0043	0.0099	0.0042	0.0042	0.0078	0.0071	0.0007	0.0026	0.0046	5.04e-05	0.0003	0.0099	0.0048	0.0044	0.0045	0.0028	0.0028	0.0029	0.0026	0.0041	0.0025	0.0025	0.0037	0.0035	0.0010	0	0.0031	0.0043	0.0002	0.0003	0.0068	0.0041	0.0066	0.0039	0.089	0.32141	T	0.055	0.48080	T	0.842	0.46562	P	0.253	0.39112	B	0.000001	0.62929	D	0.054326	0.999775	0.49394	D	0.76	0.19266	N	1.95	0.22474	T	-1.87	0.43717	N	0.518	0.57263	-1.1292	0.01821	T	0.029	0.12541	T	10	0.020147294	0.00459	T	0.014685	0.34971	T	0.119	0.33137	.	.	0.513674172182	0.51010	0.4065224521706497	0.40568	0.63453964438	0.57307	0.469364464283	0.34593	T	0.404	0.76037	T	-0.450405	0.01123	T	-0.418248	0.31276	T	0.0185645089946174	0.00571	T	0.985701	0.95103	D	0.37940398	0.59274	0.17648907	0.40186	0.5238036	0.68478	0.20858358	0.45165	-8.761	0.66145	D	0.2650634960635672	0.35741	0.090	0.17488	B	.;.;.;.	.;.;.;.	5.277650	0.88614	29.7	0.99869633706115868	0.94726	0.90007	0.50855	D	AEFGBHCI	0.616598	0.60310	D	0.320066418979664	0.57179	3.884338	0.443787975992137	0.64318	4.684352	0.999999999997967	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.9	5.9	0.94952	4.119000	0.57638	5.894000	0.50799	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.880000	0.42090	0.0:0.8106:0.0:0.1894	7.731	0.27951	476	0.77720	Transketolase, N-terminal;Transketolase, N-terminal;.;Transketolase, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1409.98	38	chr3	53233167	.	C	T	1409.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.47;DP=1103;ExcessHet=0.0000;FS=2.955;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.40;ReadPosRankSum=-1.882e+00;SOR=1.126	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,108,1620	20	0	1	0
chr3	53235012	53235012	G	T	exonic	TKT	.	nonsynonymous SNV	TKT:NM_001064:exon5:c.C600A:p.D200E	Short stature, developmental delay, and congenital heart defects, Autosomal recessive	.	435	1061	25	1	0	27	0.012564	.	.	698252	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.49	T	0.0	B	0.003	B	0.000	N	0.699	D	-0.8	N	1.0	T	-1.038	T	0.022	T	0.074	-0.014	3.944	-8.32	-1.269	-0.826	3.486	0.121	0.0099925915377	0.0032	0.00179712	0.0030	0.0010	0.0021	0	0.0002	0.0037	0.0022	0.0047	0.0030077	465	154602	rs150551962	0.0043	0.0043	0.0042	0.0043	0.0099	0.0042	0.0042	0.0078	0.0071	0.0007	0.0025	0.0046	5.038e-05	0.0003	0.0099	0.0048	0.0044	0.0045	0.0028	0.0028	0.0029	0.0026	0.0041	0.0025	0.0025	0.0037	0.0035	0.0010	0	0.0031	0.0043	0.0002	0.0003	0.0068	0.0041	0.0066	0.0039	0.58	0.06282	T	0.604	0.07842	T	0.0	0.02946	B	0.003	0.08700	B	0.000001	0.84330	N	0.091707	0.699474	0.33406	D	-0.74	0.01752	N	1.0	0.41392	T	-0.11	0.08653	N	0.075	0.22742	-1.0383	0.17832	T	0.022	0.09559	T	10	0.0050515532	0.00109	T	0.009993	0.25990	T	0.121	0.33580	0.591	0.71999	0.188950314367	0.18478	0.2628957130852342	0.26202	0.346780503942	0.36582	0.441164582968	0.30736	T	0.25233	0.62270	T	-0.668634	0.00056	T	-0.731718	0.04250	T	0.000775153748033776	0.00007	T	0.821518	0.48098	T	0.20183973	0.42208	0.04764035	0.06905	0.21242823	0.43594	0.052317426	0.08596	-2.769	0.11000	T	0.08845102626155471	0.05302	0.095	0.24157	B	.;.;.;.	.;.;.;.	-0.594179	0.01588	0.107	0.52132479713537527	0.04690	0.24686	0.22470	N	AEFGBHCI	0.270188	0.38630	N	-1.78220852389748	0.00590	0.02542901	-1.80306897735056	0.00749	0.03340434	0.999999998898184	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.47	-8.32	0.00873	-1.110000	0.03417	-2.744000	0.03406	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.5047:0.0729:0.2492:0.1733	3.486	0.07182	479	0.77495	Transketolase, N-terminal;Transketolase, N-terminal;.;Transketolase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1593.98	33	chr3	53235012	.	G	T	1593.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.084;DP=837;ExcessHet=0.0000;FS=5.874;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.28;ReadPosRankSum=0.177;SOR=0.740	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1302	20	0	1	0
chr3	53876082	53876082	-	GGGG	splicing	ACTR8	NM_022899:exon7:c.779-2->CCCC	.	.	.	.	440	839	208	22	13	265	0.13057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	9.259e-05	0	0	0	0	0	0.0001811	28	154602	rs370490982	0.0002	0.0002	0.0002	0.0001	0.0056	0.0001	0.0001	0.0049	0.0047	0.0056	0.0003	0	0	0	0.0005	6.407e-06	0.0005	3.588e-05	0.0024	0.0025	0.0023	0.0024	0.0082	0.0022	0.0021	0.0075	0.0072	0.0082	0	0.0014	0	0	0	0	1.497e-05	0.0024	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	9238.32	34	chr3	53876082	.	T	TG,TGGGG	9238.32	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=0.075;DP=1434;ExcessHet=0.9430;FS=1.872;InbreedingCoeff=0.0101;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=-6.550e-01;SOR=0.551	GT:AD:DP:GQ:PL	0/0:33,0,0:33:99:0,99,1292,99,1292,1292	13	1	6	0
chr3	53886895	53886895	T	G	exonic	SELENOK	.	unknown	UNKNOWN,	.	.	439	1070	9	4	0	17	0.00788132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.0	B	0.002	B	0.000	D	0.990	D	.	.	0.94	T	-1.099	T	0.032	T	0.511	1.979	12.58	4.15	0.850	1.527	11.530	0.250	.	0.0036	0.00978435	0.0070	0.0207	0.0856	0.0013	0.0046	0.0022	0	0.0018	0.0032794	507	154602	rs11562	0.0017	0.0018	0.0019	0.0016	0.0199	0.0017	0.0017	0.0187	0.0182	0.0130	0.0199	0	0.0008	0.0026	0.0019	0.0007	0.0021	0.0018	0.0066	0.0067	0.0057	0.0076	0.0249	0.0063	0.0062	0.0228	0.0220	0.0127	0	0.0249	0	0.0012	0.0024	0	0.0008	0.0061	0.0014	0.379	0.12109	T	0.491	0.11515	T	0.0	0.02946	B	0.002	0.06944	B	0.000003	0.62929	D	0.106439	0.990094	0.41086	D	.	.	.	0.94	0.43672	T	-0.11	0.08653	N	0.188	0.37301	-1.0989	0.04227	T	0.032	0.13592	T	9	0.0026183426	0.00040	T	.	.	.	0.250	0.55888	0.207	0.12356	0.144782658237	0.14088	.	.	0.366090419773	0.38189	0.495579183102	0.38213	T	0.005959	0.05402	T	-0.433535	0.01412	T	-0.379924	0.35731	T	0.018607332201682	0.00574	T	0.563744	0.19863	T	0.13985957	0.32291	0.108434	0.26120	0.13985957	0.32291	0.108434	0.26120	.	.	.	.	.	0.128	0.27222	B	.;.	.;.	2.653826	0.34557	19.66	0.97953524397406766	0.37122	0.88904	0.49062	D	AEFGBI	0.228308	0.35199	N	-0.3540956097411	0.27123	1.485536	-0.188308152228182	0.31964	1.813994	0.999998399160924	0.74766	0.732398	0.92422	0	0.658105	0.61773	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.33	4.15	0.47978	1.578000	0.36135	2.770000	0.34664	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.1498:0.8502	11.530	0.49859	649	0.63102	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	712.98	33	chr3	53886895	.	T	G	712.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.74;DP=758;ExcessHet=0.0000;FS=1.017;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=0.235;SOR=0.502	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1222	20	0	1	0
chr3	54888022	54888022	A	G	exonic	CACNA2D3	.	nonsynonymous SNV	CACNA2D3:NM_018398:exon24:c.A2120G:p.Y707C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	1.0	D	0.984	D	0.000	D	1.000	D	2.8	M	1.51	T	-0.695	T	0.213	T	0.913	4.173	21.6	5.53	2.106	8.957	14.266	0.554	0.0571932644178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.46910	D	0.003	0.76473	D	1.0	0.90584	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	0.99994	0.51968	D	2.49	0.72568	M	1.51	0.30937	T	-6.64	0.92217	D	0.899	0.90138	-0.6951	0.60670	T	0.213	0.57347	T	10	0.840887	0.83245	D	0.057193	0.66878	D	0.554	0.81601	0.504	0.59770	0.738098091381	0.73575	0.7907648853934576	0.79028	1.05308525132	0.76224	0.917418718338	0.98120	D	0.301791	0.67422	T	0.235	0.77172	D	0.0994972	0.76875	D	0.992926418781281	0.83541	D	0.956904	0.83579	D	0.48355144	0.66115	0.48435488	0.70150	0.48355144	0.66116	0.48435488	0.70151	-15.993	0.97750	D	.	.	0.952	0.87116	P	.;.;.;.	.;.;.;.	4.599196	0.72823	25.9	0.99808802845277933	0.89264	0.98982	0.89513	D	AEFGI	0.954570	0.97177	D	0.784792666828423	0.85144	8.489725	0.721652512139191	0.84025	8.177882	0.99999999999568	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.53	5.53	0.82530	8.942000	0.92506	11.160000	0.87621	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	1.0:0.0:0.0:0.0	14.266	0.65667	881	0.29269	Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region;Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region;Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1601.98	142	chr3	54888022	.	A	G	1601.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.439;DP=872;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.28;ReadPosRankSum=0.245;SOR=0.650	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1312	20	0	1	0
chr3	54918483	54918484	CT	-	exonic	LRTM1	.	frameshift deletion	LRTM1:NM_001304389:exon3:c.785_786del:p.E262Afs*3	.	.	435	1073	14	0	0	14	0.00648148	.	.	698260	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0036	0.00379393	0.0039	0.0064	0.0011	0.0045	0.0086	0.0028	0.0055	0.0062	0.0008068	21	26028	rs573640720	0.0024	0.0024	0.0022	0.0026	0.0070	0.0024	0.0023	0.0066	0.0064	0.0058	0.0013	0.0027	0.0053	0.0092	0.0031	0.0015	0.0034	0.0070	0.0040	0.0040	0.0033	0.0046	0.0071	0.0037	0.0036	0.0057	0.0054	0.0063	0.0011	0.0017	0.0029	0.0064	0.0105	0.0102	0.0016	0.0052	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1885.94	35	chr3	54918482	.	GCT	G	1885.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.000e-02;DP=896;ExcessHet=0.0000;FS=1.584;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.84;ReadPosRankSum=0.575;SOR=0.903	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr3	54924948	54924948	C	G	exonic	LRTM1	.	nonsynonymous SNV	LRTM1:NM_001304389:exon2:c.G47C:p.G16A	.	.	433	1080	9	0	0	9	0.00414938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.003	B	0.005	B	0.059	N	1.000	N	0.295	N	0.32	T	-1.054	T	0.080	T	0.087	-0.537	1.559	-1.95	-0.754	0.173	7.245	0.052	0.00889041164057	0.0015	0.000399361	0.0016	0.0004	0.0007	0	0.0020	0.0023	0.0011	0.0008	0.0015588	241	154602	rs141303357	0.0013	0.0013	0.0012	0.0013	0.0023	0.0012	0.0012	0.0013	0.0013	0.0002	0.0006	0.0022	0	0.0017	0.0023	0.0014	0.0012	0.0006	0.0011	0.0011	0.0009	0.0012	0.0013	0.0009	0.0009	0.0011	0.0010	0.0003	0.0011	0.0008	0.0023	0	0.0030	0.0034	0.0013	0.0024	0	0.571	0.17881	T	0.135	0.34124	T	0.003	0.11197	B	0.005	0.11217	B	0.059122	0.22347	N	0.530450	1	0.08975	N	1.405	0.35469	L	0.32	0.58468	T	-2.73	0.58085	D	0.109	0.09490	-1.0539	0.13332	T	0.080	0.31705	T	10	0.0061196685	0.00138	T	0.00889	0.23439	T	0.052	0.14661	.	.	0.419090007872	0.41522	0.3725960352696023	0.37173	0.0169315487311	0.01637	0.254844486713	0.04295	T	0.041009	0.25715	T	-0.577352	0.00200	T	-0.609367	0.12036	T	0.00429736380556554	0.00046	T	0.415458	0.16261	T	0.082700945	0.19064	0.07855556	0.17607	0.082700945	0.19063	0.07855556	0.17607	-5.132	0.38242	T	.	.	0.097	0.15788	B	.;.	.;.	-0.263049	0.02785	0.379	0.54693226151439933	0.05189	0.03713	0.08999	N	AEFI	0.061082	0.11651	N	-1.48850540022559	0.01930	0.08473331	-1.47425037255508	0.02557	0.1178209	0.999725535603872	0.42220	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.74	-1.95	0.07135	0.337000	0.19582	0.266000	0.16602	-1.101000	0.01509	0.017000	0.19353	0.001000	0.17328	0.541000	0.29961	0.0:0.2695:0.4878:0.2427	7.245	0.25290	733	0.53988	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1419.98	33	chr3	54924948	.	C	G	1419.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.07;DP=822;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=-5.100e-01;SOR=0.674	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1342	20	0	1	0
chr3	56619786	56619786	A	-	exonic	CCDC66	.	frameshift deletion	CCDC66:NM_001353151:exon16:c.2546delA:p.K850Nfs*20	.	.	436	1081	5	0	0	5	0.00230734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	.	0.0002	9.63e-05	0.0003	0	0	0.0003	0.0011	0.0002	0.000194	30	154602	rs764896167	0.0002	0.0002	0.0002	0.0002	0.0085	0.0002	0.0002	0.0066	0.0059	0.0001	0.0002	0.0014	0	0	0.0085	0.0001	0.0005	0.0003	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0	0	6.545e-05	0.0009	0	0	0.0102	0.0002	0.0024	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1910.94	34	chr3	56619785	.	CA	C	1910.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.241;DP=805;ExcessHet=0.0000;FS=0.793;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.11;ReadPosRankSum=-2.700e-01;SOR=0.537	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1311	20	0	1	0
chr3	56619792	56619792	G	C	exonic	CCDC66	.	nonsynonymous SNV	CCDC66:NM_001353151:exon16:c.G2552C:p.R851P	.	.	436	1081	5	0	0	5	0.00230734	.	.	3295906	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.0	B	0.001	B	0.269	N	1.000	N	1.175	L	1.65	T	-1.038	T	0.047	T	0.373	1.297	10.25	-1.11	-0.106	0.145	5.647	0.099	0.00691342597739	.	.	0.0002	9.621e-05	0.0003	0	0	0.0003	0.0011	0.0002	0.000194	30	154602	rs146236480	0.0002	0.0002	0.0002	0.0002	0.0085	0.0002	0.0002	0.0066	0.0059	0.0001	0.0002	0.0014	0	0	0.0085	0.0001	0.0005	0.0003	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0	0	6.539e-05	0.0009	0	0	0.0102	0.0002	0.0024	0.0004	0.019	0.50132	D	0.02	0.58613	D	0.0	0.02946	B	0.001	0.04355	B	0.269297	0.15159	N	0.595021	1	0.08975	N	1.32	0.33002	L	1.64	0.27822	T	-0.9	0.24244	N	0.328	0.39457	-1.0380	0.17924	T	0.047	0.20195	T	10	0.028132677	0.00949	T	0.006913	0.18289	T	0.099	0.28413	0.134	0.03833	0.110078149338	0.10416	0.20748871332900903	0.20664	0.0545315573649	0.06029	0.208719193935	0.00758	T	0.232915	0.59959	T	-0.396879	0.02427	T	-0.511673	0.21143	T	0.0473136437796111	0.05021	T	0.684632	0.29288	T	0.19841063	0.41743	0.15912203	0.37126	0.19841063	0.41743	0.15912203	0.37126	-3.822	0.21134	T	.	.	0.132	0.32827	B	.;.	.;.	0.961981	0.13387	9.891	0.79770417554119111	0.12893	0.11637	0.16764	N	AEFGBI	0.131063	0.24985	N	-1.26419210663798	0.04115	0.1851172	-1.32125975948523	0.04156	0.1954348	0.0116148913261676	0.12211	0.660377	0.49826	0	0.546412	0.12157	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	4.22	-1.11	0.09336	0.023000	0.13424	0.035000	0.13787	-0.704000	0.03997	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.399:0.2109:0.39:0.0	5.647	0.16871	285	0.88719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1904.98	34	chr3	56619792	.	G	C	1904.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.11;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.68;ReadPosRankSum=-3.330e-01;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1311	20	0	1	0
chr3	56633868	56633868	G	T	exonic	TASOR	.	nonsynonymous SNV	TASOR:NM_001112736:exon18:c.C2923A:p.Q975K	.	.	431	1038	48	5	0	58	0.027179	.	.	708997	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.2	B	0.051	B	.	.	1.000	D	1.1	L	2.76	T	-1.094	T	0.021	T	0.258	2.744	15.13	4.69	2.801	4.602	15.662	0.087	.	0.0012	0.00539137	0.0080	0.0008	0.0030	0	0.0007	0.0026	0.0076	0.0397	0.0051616	798	154602	rs200904014	0.0041	0.0041	0.0031	0.0050	0.0341	0.0040	0.0040	0.0330	0.0326	0.0005	0.0014	0.0007	0.0001	0.0004	0.0182	0.0023	0.0044	0.0341	0.0023	0.0023	0.0021	0.0026	0.0282	0.0021	0.0020	0.0244	0.0229	0.0003	0	0.0022	0.0006	0.0002	9.434e-05	0.0068	0.0023	0.0033	0.0282	0.109	0.29288	T	0.448	0.13030	T	0.2	0.29645	B	0.051	0.25434	B	.	.	.	.	1	0.81001	D	.	.	.	2.76	0.11515	T	-0.74	0.20791	N	0.238	0.26837	-1.0940	0.04899	T	0.021	0.08824	T	9	0.00344491	0.00061	T	.	.	.	0.087	0.25287	.	.	0.082315109003	0.07666	.	.	0.361154789686	0.37775	0.47948050499	0.35985	T	.	.	.	-0.519304	0.00444	T	-0.493653	0.23008	T	0.00853554385659028	0.00104	T	0.873313	0.58144	D	.	.	.	.	.	.	.	.	-3.72	0.19614	T	.	.	0.097	0.15966	B	.	.	3.751016	0.53764	23.4	0.98952803109616327	0.49170	0.88481	0.48429	D	AEFBCI	0.550794	0.56313	D	-0.10567149547457	0.37144	2.156905	0.102129240639342	0.44657	2.743241	0.850442536593728	0.25034	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.62	4.69	0.58546	5.023000	0.63858	9.865000	0.82085	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8623:0.1377	15.662	0.76948	283	0.88803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1167.98	40	chr3	56633868	.	G	T	1167.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.020e+00;DP=870;ExcessHet=0.0000;FS=1.753;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=-5.860e-01;SOR=0.509	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr3	56668539	56668539	T	C	exonic	TASOR	.	nonsynonymous SNV	TASOR:NM_001112736:exon6:c.A755G:p.Y252C	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.992	D	.	.	1.000	D	1.59	L	0.85	T	-0.530	T	0.230	T	0.859	3.222	16.79	5.44	2.056	3.339	10.712	0.279	0.0546928899671	.	.	0.0004	0	0	0	0	0	0	0.0009	5.17e-05	8	154602	rs756294047	6.385e-05	6.225e-05	3.822e-05	9.02e-05	0.0009	5.273e-05	4.899e-05	0.0007	0.0006	0	0	0	0	0	0.0009	1.299e-05	8.662e-05	0.0008	3.942e-05	3.94e-05	1.285e-05	6.724e-05	0.0008	1.715e-05	1.129e-05	0.0003	0.0002	0	0	0	0	0	0	0	2.94e-05	0	0.0008	0.008	0.58626	D	0.008	0.67890	D	1.0	0.90584	D	0.992	0.80445	D	.	.	.	.	0.890086	0.35933	D	.	.	.	0.85	0.47130	T	-3.48	0.67941	D	0.666	0.67477	-0.5303	0.67530	T	0.230	0.59521	T	9	0.33972576	0.51054	T	0.054693	0.65953	D	0.279	0.59619	0.424	0.46857	0.278043722374	0.27408	0.5484433043619228	0.54770	0.969771528771	0.73320	0.609489917755	0.54243	T	.	.	.	-0.100007	0.36423	T	0.0107663	0.71032	D	0.452827662229538	0.30901	T	0.934107	0.75346	D	.	.	.	.	.	.	.	.	-4.296	0.28121	T	.	.	0.092	0.27880	B	.;.	.;.	4.638214	0.73819	26.1	0.996668494608134	0.78330	0.93693	0.58922	D	AEBHCI	0.409482	0.48074	N	0.584800994546409	0.72227	5.772416	0.575911288078855	0.73218	5.934474	0.984325430006581	0.30699	0.706548	0.73137	0	0.724815	0.89359	0	0.463624	0.06942	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	3.205000	0.50792	7.694000	0.65937	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1422:0.0:0.0:0.8578	10.712	0.45187	241	0.90582	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	654.98	34	chr3	56668539	.	T	C	654.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.452;DP=730;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.10;ReadPosRankSum=0.466;SOR=0.811	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,886	20	0	1	0
chr3	57098200	57098200	C	A	exonic	IL17RD	.	nonsynonymous SNV	IL17RD:NM_017563:exon12:c.G1503T:p.M501I	Hypogonadotropic hypogonadism 18 with or without anosmia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.997	D	0.95	D	0.000	D	1.000	D	2.25	M	1.28	T	-0.697	T	0.235	T	0.905	4.309	22.6	5.54	2.606	7.276	19.48	0.423	0.0365107764805	.	.	2.484e-05	0	0	0	0	1.507e-05	0	0.0001	2.59e-05	4	154602	rs768116207	1.984e-05	1.984e-05	6.807e-06	3.301e-05	0.0003	1.392e-05	1.204e-05	0.0002	0.0002	0	0	0	0	0	0	0	1.656e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	0.997	0.70673	D	0.908	0.64494	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.79	0.81396	M	1.28	0.35960	T	-3.64	0.69835	D	0.901	0.90138	-0.6966	0.60600	T	0.235	0.60234	T	10	0.8826078	0.87577	D	0.036511	0.57034	D	0.423	0.73152	0.777	0.90235	0.506006782367	0.50240	0.6790585228477849	0.67844	0.612962466754	0.55882	0.67223495245	0.63157	T	0.84463	0.96407	D	0.100725	0.64371	D	0.143577	0.79775	D	0.90264368057251	0.55566	D	0.912709	0.68911	D	0.660246	0.75912	0.64095384	0.79023	0.660246	0.75913	0.64095384	0.79024	-9.107	0.68382	D	0.8054977396699579	0.88144	0.983	0.93296	P	.;.;.;.	.;.;.;.	4.573127	0.72174	25.8	0.9964383446418299	0.76819	0.99278	0.93852	D	AEFDBI	0.854977	0.77204	D	0.734797474111379	0.81912	7.634839	0.703998432003418	0.82682	7.828	0.999999999999999	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.586402	0.36253	0	.	.	5.54	5.54	0.82907	7.359000	0.78737	7.636000	0.62963	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:1.0:0.0:0.0	19.48	0.94997	648	0.63242	SEFIR domain|SEFIR domain;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2073.98	37	chr3	57098200	.	C	A	2073.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.242e+00;DP=974;ExcessHet=0.0000;FS=6.847;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=0.115;SOR=0.351	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr3	57114776	57114776	C	T	exonic	IL17RD	.	nonsynonymous SNV	IL17RD:NM_017563:exon3:c.G226A:p.A76T,	Hypogonadotropic hypogonadism 18 with or without anosmia, Autosomal dominant	.	422	1087	13	0	0	13	0.00594422	.	.	2124569	not_provided|IL17RD-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.867	P	0.359	B	0.000	D	1.000	N	0.345	N	2.87	T	-1.098	T	0.021	T	0.248	2.340	13.78	4.88	2.735	3.707	15.688	0.062	0.0136662428832	.	0.00159744	0.0012	0	8.717e-05	0	0	9.059e-05	0	0.0093	0.0010155	157	154602	rs541423556	0.0005	0.0005	0.0003	0.0007	0.0071	0.0005	0.0005	0.0067	0.0065	0	0.0001	0	0	0	0.0030	5.402e-05	0.0006	0.0071	0.0002	0.0002	8.994e-05	0.0004	0.0068	0.0002	0.0002	0.0050	0.0044	0	0	0	0	0	0	0.0034	2.94e-05	0	0.0068	0.159	0.23813	T	0.113	0.36901	T	0.791	0.44643	P	0.196	0.36635	B	0.000194	0.48115	D	0.211944	1	0.81001	D	0.55	0.14455	N	2.87	0.10386	T	-0.16	0.09460	N	0.341	0.38232	-1.0984	0.04290	T	0.021	0.08686	T	10	0.0066627264	0.00151	T	0.013666	0.33248	T	0.062	0.17934	.	.	0.386395597597	0.38251	0.3548117082326522	0.35395	0.427416486796	0.43086	0.478272438049	0.35819	T	0.324925	0.69569	T	-0.518681	0.00448	T	-0.51298	0.21008	T	0.0336415061716869	0.02578	T	0.919408	0.70943	D	0.053298954	0.10065	0.072218716	0.15554	0.05838379	0.11737	0.08061505	0.18250	-2.75	0.07733	T	0.22867157832615456	0.30927	0.124	0.26138	B	.	.	3.024070	0.40482	21.2	0.99356752614982946	0.60820	0.90274	0.51321	D	AEFBI	0.295255	0.40542	N	0.112147427159505	0.47030	2.934407	0.196221277179984	0.49640	3.16473	0.999998661467261	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.530356	0.10902	0	.	.	5.8	4.88	0.63131	3.543000	0.53387	3.153000	0.36534	0.599000	0.40250	1.000000	0.71638	0.997000	0.33255	0.177000	0.21203	0.1375:0.8625:0.0:0.0	15.688	0.77184	524	0.74079	Interleukin 17 receptor D, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1104.98	33	chr3	57114776	.	C	T	1104.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.494;DP=768;ExcessHet=0.0000;FS=0.831;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.31;ReadPosRankSum=0.351;SOR=0.547	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1193	20	0	1	0
chr3	57198277	57198277	G	A	exonic	HESX1	.	nonsynonymous SNV	HESX1:NM_003865:exon4:c.C478T:p.R160C	Growth hormone deficiency with pituitary anomalies, Autosomal recessive, Autosomal dominant;Pituitary hormone deficiency, combined, 5, Autosomal recessive, Autosomal dominant;Septooptic dysplasia, Autosomal recessive, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	22730	Septo-optic_dysplasia_sequence	Human_Phenotype_Ontology:HP:0100842,MONDO:MONDO:0008428,MedGen:C0338503,OMIM:182230,Orphanet:3157	no_assertion_criteria_provided	Pathogenic	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	A	5.375	H	-4.38	D	0.895	D	0.993	D	0.986	3.602	18.34	5.25	2.619	5.917	19.217	0.912	0.7185837252	.	.	8.292e-06	0	0	0	0	1.506e-05	0	0	6.5e-06	1	154602	rs28936702	1.849e-05	1.915e-05	1.635e-05	2.065e-05	3.483e-05	1.266e-05	1.085e-05	1.296e-05	1.107e-05	0	0	3.83e-05	0	0	0	1.98e-05	1.658e-05	3.483e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	A	4.12	0.97420	H	-5.73	0.99303	D	-7.53	0.95131	D	0.807	0.80278	0.895	0.95608	D	0.993	0.99830	D	9	0.990981	0.99615	D	0.718584	0.97721	D	0.912	0.97662	0.975	0.99766	0.996147397946	0.99610	0.9106944834585501	0.91043	0.412041259716	0.41953	0.709908723831	0.68580	T	0.963952	0.99555	D	0.543851	0.95526	D	0.558914	0.95934	D	0.999748647212982	0.98780	D	0.994301	0.98122	D	0.9269811	0.93935	0.8542323	0.91789	0.9364005	0.94882	0.91244334	0.95863	-12.255	0.86071	D	0.9023530054800712	0.95335	0.978	0.91023	P	.;.;.	.;.;.	5.223516	0.87673	29.3	0.99914671999741123	0.98309	0.86840	0.46210	D	AEFBI	0.701049	0.65786	D	1.10222209724316	0.98175	17.60258	0.951438426263697	0.97446	16.14431	0.999999978199531	0.74766	0.608746	0.35421	0	0.633656	0.55848	0	0.731467	0.93227	0	0.444512	0.06955	0	.	.	5.25	5.25	0.73169	5.817000	0.68907	11.803000	0.96709	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.217	0.93770	436	0.80373	Homeobox domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|Homeobox domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	766.98	33	chr3	57198277	.	G	A	766.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.030e-01;DP=778;ExcessHet=0.0000;FS=1.852;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.09;ReadPosRankSum=-2.870e-01;SOR=0.831	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1187	20	0	1	0
chr3	57278633	57278633	A	G	exonic	ASB14	.	nonsynonymous SNV	ASB14:NM_130387:exon1:c.T320C:p.I107T	.	.	.	.	.	.	.	.	.	.	.	2216487	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.918	P	0.697	P	.	.	1.000	D	1.15	L	-0.1	T	-0.439	T	0.272	T	0.571	3.759	19.08	6.07	2.326	5.895	16.641	0.218	0.0239059175957	.	0.000199681	0.0001	0	0	0.0001	0	0	0	0.0010	0.0001229	19	154602	rs577334264	4.104e-05	4.104e-05	2.995e-05	5.225e-05	0.0006	3.244e-05	2.919e-05	0.0005	0.0005	2.987e-05	0	0	0	0	0	1.799e-06	3.312e-05	0.0006	1.313e-05	1.312e-05	0	2.684e-05	0.0004	2.18e-06	8.2e-07	7.299e-05	3.032e-05	0	0	0	0	0	0	0	0	0	0.0004	0.002	0.72154	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	0.894661	0.36030	D	0.825	0.20901	L	-0.1	0.64264	T	-3.27	0.66436	D	0.759	0.75742	-0.4385	0.70780	T	0.272	0.64360	T	9	0.26298463	0.43772	T	0.023906	0.46889	T	0.218	0.51265	0.453	0.51612	0.427713192076	0.42389	0.48932684236541973	0.48852	0.0698128753947	0.07817	0.734413146973	0.72151	T	0.188611	0.54258	T	-0.244516	0.14778	T	-0.180355	0.56492	T	0.248637151846076	0.22812	T	0.947205	0.79675	D	0.47237867	0.65437	0.5661279	0.74886	0.47237867	0.65437	0.5661279	0.74887	-8.996	0.68968	D	.	.	0.439	0.61649	A	.;.	.;.	4.400792	0.67996	25.2	0.99806217021964994	0.89085	0.96038	0.67252	D	AEFDGBI	0.561516	0.56948	D	0.471319442991618	0.65424	4.820567	0.564902567320661	0.72439	5.810233	0.99560570332393	0.34219	0.676195	0.55175	0	0.379588	0.06130	0	0.564498	0.18976	0	0.633917	0.49826	0	.	.	6.07	6.07	0.98675	5.884000	0.69473	11.226000	0.89934	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	16.641	0.84955	224	0.91330	.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3639.98	33	chr3	57278633	.	A	G	3639.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.81;DP=958;ExcessHet=0.0000;FS=0.439;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=0.121;SOR=0.645	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1188	20	0	1	0
chr3	57293947	57293947	G	A	exonic	DNAH12	.	nonsynonymous SNV	DNAH12:NM_001366028:exon74:c.C11717T:p.S3906L,	.	.	444	1076	2	0	0	2	0.000928505	.	.	2333219	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.291	B	0.258	B	0.256	N	0.996	N	0.62	N	3.02	T	-0.966	T	0.018	T	0.291	0.908	8.696	1.65	0.013	2.667	7.823	0.048	0.0214323152657	.	.	0.0006	0	0.0025	0	0	0.0004	0.0043	0.0009	7.76e-05	12	154602	rs773673721	9.755e-05	0.0001	7.467e-05	0.0001	0.0014	8.341e-05	7.812e-05	0.0006	0.0005	0.0002	0.0003	0	0	2.253e-05	0.0014	6.698e-05	0.0001	0.0005	8.114e-05	7.987e-05	7.885e-05	8.357e-05	0.0002	4.619e-05	3.608e-05	6.969e-05	5.134e-05	2.485e-05	0	6.764e-05	0	0	0	0	0.0001	0	0.0002	0.031	0.45039	D	.	.	.	0.291	0.32334	B	0.258	0.39350	B	0.256476	0.15401	N	0.646401	1	0.08975	N	0.48	0.13178	N	3.02	0.08986	T	-1.52	0.36980	N	0.13	0.12484	-0.9661	0.37994	T	0.018	0.07518	T	10	0.010202736	0.00228	T	0.021432	0.44197	T	0.048	0.13305	.	.	0.403896168776	0.40002	.	.	.	.	0.415984153748	0.27283	T	0.013361	0.11574	T	-0.500794	0.00566	T	-0.568837	0.15555	T	0.02865857058335	0.01786	T	0.488051	0.17380	T	0.08239395	0.18979	0.09621834	0.22852	0.08239395	0.18978	0.09621834	0.22851	-3.125	0.11586	T	.	.	0.095	0.15115	B	.;.	.;.	2.300814	0.29439	18.12	0.78979674264889144	0.12536	0.49526	0.28453	N	AEFI	0.204708	0.33112	N	-0.555015678062506	0.20327	1.07072	-0.502235041342342	0.22092	1.198262	0.0368036811065326	0.14262	0.516011	0.20929	0	0.573888	0.26702	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.56	1.65	0.23015	2.785000	0.47470	0.582000	0.19717	0.665000	0.62972	0.155000	0.23727	0.000000	0.08366	0.994000	0.71098	0.197:0.1168:0.6863:0.0	7.823	0.28462	217	0.91564	Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	903.98	63	chr3	57293947	.	G	A	903.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.16;DP=816;ExcessHet=0.0000;FS=2.216;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.35;ReadPosRankSum=1.32;SOR=1.127	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1206	20	0	1	0
chr3	57322364	57322364	C	A	exonic	DNAH12	.	nonsynonymous SNV	DNAH12:NM_001366028:exon65:c.G10503T:p.K3501N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.024	B	0.055	B	0.621	N	1.000	N	-1.17	N	4.4	T	-0.890	T	0.007	T	0.126	1.282	10.19	-5.57	-0.638	-0.162	9.356	0.023	0.00979655850758	.	.	4.587e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs757419841	5.718e-06	5.472e-06	4.231e-06	7.247e-06	2.529e-05	2.46e-06	1.78e-06	4.2e-06	1.57e-06	0	0	0	0	0	0	4.635e-06	1.723e-05	2.529e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416	0.09958	T	.	.	.	0.024	0.19075	B	0.055	0.25995	B	0.621336	0.10775	N	0.846463	1	0.08975	N	-1.985	0.00201	N	3.06	0.08634	T	0.9	0.01618	N	0.143	0.14338	-0.8897	0.48960	T	0.007	0.02282	T	10	0.017258823	0.00367	T	0.009797	0.25563	T	0.023	0.04649	0.392	0.41606	0.0611884634855	0.05136	.	.	.	.	0.30009740591	0.10415	T	0.001283	0.00766	T	-0.45031	0.01125	T	-0.756837	0.03227	T	0.0478246808052063	0.05112	T	0.743826	0.36376	T	0.06580069	0.14097	0.052955426	0.08825	0.06580069	0.14097	0.052955426	0.08825	-0.097	0.00385	T	.	.	0.143	0.31381	B	.;.	.;.	0.448245	0.08180	4.918	0.95397306232214329	0.26843	0.02642	0.07243	N	AEFDBI	0.059615	0.11271	N	-1.27584089711767	0.03969	0.1782535	-1.22416400604738	0.05524	0.2634226	0.0110209385005413	0.12117	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.53	-5.57	0.02321	-0.447000	0.06901	-1.263000	0.05873	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.6651:0.1164:0.0:0.2186	9.356	0.37327	225	0.91282	Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	878.98	34	chr3	57322364	.	C	A	878.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.307e+00;DP=772;ExcessHet=0.0000;FS=4.368;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.72;ReadPosRankSum=0.153;SOR=0.331	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1209	20	0	1	0
chr3	57377165	57377165	T	C	exonic	DNAH12	.	nonsynonymous SNV	DNAH12:NM_001366028:exon53:c.A8281G:p.M2761V,	.	.	1164	354	4	0	0	4	0.00561798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1019166870	0	9.701e-05	.	0	.	0	0	.	.	.	.	.	.	.	.	0	.	.	0.0035	0.0035	0.0039	0.0030	0.0061	0.0032	0.0031	0.0057	0.0055	0.0013	0	0.0022	0.0003	0.0002	0.0004	0	0.0061	0.0028	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.34767	.	.	.	.	.	.	.	0.08644739	0.14696	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582561	0.86353	D	.	.	.	.	.	.	.	.	.	0.640736	0.25328	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.13456	B	.	.	2.637005	0.34303	19.59	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.771000	0.47354	2.952000	0.35717	-0.163000	0.11536	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	.	.	.	301	0.87912	Dynein heavy chain, coiled coil stalk	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2032.11	43	chr3	57377165	.	T	C	2032.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.02;DP=906;ExcessHet=0.1072;FS=2.150;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=0.509;SOR=0.521	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	19	0	2	0
chr3	57408506	57408506	G	A	exonic	DNAH12	.	nonsynonymous SNV	DNAH12:NM_001366028:exon40:c.C6050T:p.T2017M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.808	P	0.354	B	.	.	1.000	N	1.59	L	1.27	T	-1.013	T	0.098	T	0.285	1.557	11.16	4.13	2.421	3.657	14.649	0.070	0.0691018060287	.	0.000399361	0.0014	0	0	0	0	0	0	0.0041	0.0001746	27	154602	rs544442885	0.0002	0.0002	9.322e-05	0.0002	0.0021	0.0001	0.0001	0.0019	0.0018	6.348e-05	0	0	0.0001	6.098e-05	0.0004	4.083e-05	0.0002	0.0021	7.88e-05	7.874e-05	3.854e-05	0.0001	0.0019	4.494e-05	3.51e-05	0.0010	0.0007	2.407e-05	0	0	0	0	0	0	2.94e-05	0	0.0019	0.011	0.55530	D	.	.	.	0.808	0.45299	P	0.354	0.42942	B	.	.	.	.	1	0.08975	N	1.76	0.45711	L	1.27	0.36146	T	-2.88	0.60507	D	0.394	0.43514	-1.0134	0.25848	T	0.098	0.36548	T	9	0.013027817	0.00278	T	0.069102	0.70637	D	0.070	0.20419	0.405	0.43738	0.628213846089	0.62517	.	.	.	.	0.566841840744	0.48231	T	0.027439	0.20093	T	-0.47079	0.00840	T	-0.455201	0.27122	T	0.0718486649704075	0.08909	T	0.887511	0.78551	D	0.09467986	0.22265	0.21512234	0.46089	0.09467986	0.22265	0.21512234	0.46088	-8.845	0.66694	D	.	.	0.078	0.07985	B	.;.	.;.	3.621208	0.51243	23.1	0.99083841132200168	0.52027	0.71576	0.35073	D	AEFBI	0.209968	0.33590	N	0.262346950188716	0.54252	3.591278	0.29431034914405	0.55207	3.68391	1.89284175427259E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.21	4.13	0.47661	3.131000	0.50210	5.774000	0.49761	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.698000	0.34080	0.0829:0.0:0.9171:0.0	14.649	0.68385	305	0.87738	AAA+ ATPase domain;AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1214.98	37	chr3	57408506	.	G	A	1214.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.680e-01;DP=819;ExcessHet=0.0000;FS=1.963;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.29;ReadPosRankSum=0.700;SOR=0.997	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1196	20	0	1	0
chr3	57429707	57429707	T	G	exonic	DNAH12	.	nonsynonymous SNV	DNAH12:NM_001366028:exon33:c.A5048C:p.D1683A,	.	.	434	1065	21	2	0	25	0.0116009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	D	4.38	H	-2.69	D	0.921	D	0.884	D	0.882	3.611	18.38	5.6	2.118	7.673	14.954	0.902	.	0.0050	0.00399361	0.0096	0	0	0	0.0294	0.0058	0	0.0177	0.0018176	281	154602	rs145799134	0.0055	0.0053	0.0054	0.0057	0.0134	0.0054	0.0054	0.0128	0.0125	0.0005	0.0017	0.0038	0.0002	0.0159	0.0078	0.0050	0.0056	0.0134	0.0049	0.0049	0.0045	0.0052	0.0129	0.0046	0.0044	0.0103	0.0094	0.0008	0.0219	0.0036	0.0029	0.0004	0.0139	0.0170	0.0058	0.0057	0.0129	0.0	0.91255	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.961138	0.38218	D	4.165	0.97651	H	-2.69	0.90451	D	-7.38	0.94702	D	0.74	0.74007	0.921	0.95972	D	0.884	0.96165	D	9	0.0107755065	0.00238	T	.	.	.	0.902	0.97286	.	.	0.943114919463	0.94252	.	.	.	.	0.709984064102	0.68591	T	0.396212	0.75490	T	0.108633	0.65208	D	0.394298	0.91927	D	0.154586672477553	0.17462	T	0.953705	0.82322	D	0.9084812	0.92154	0.876909	0.93346	0.9084812	0.92155	0.876909	0.93346	-14.845	0.95479	D	.	.	0.937	0.86658	P	.;.	.;.	5.095529	0.85110	28.5	0.98651836581941021	0.44206	0.99180	0.92409	D	AEFBI	0.881935	0.80967	D	1.03642554495874	0.96759	15.10574	0.932269146032082	0.96831	15.20575	0.998832019403816	0.37777	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.6	5.6	0.84997	7.712000	0.83637	7.741000	0.68005	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	14.954	0.70744	288	0.88579	ATPase, dynein-related, AAA domain;ATPase, dynein-related, AAA domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	884.98	34	chr3	57429707	.	T	G	884.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.260e-01;DP=742;ExcessHet=0.0000;FS=1.048;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.26;ReadPosRankSum=0.421;SOR=0.526	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1042	20	0	1	0
chr3	57446077	57446077	A	G	exonic	DNAH12	.	nonsynonymous SNV	DNAH12:NM_001366028:exon27:c.T4133C:p.M1378T,	.	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.994	D	0.985	D	.	.	1.000	D	3.805	H	1.4	T	-0.378	T	0.113	T	0.895	3.105	16.37	5.08	1.894	8.717	14.842	0.722	.	0.0114	0.0121805	0.0046	0.0456	0.0027	0	0	0.0001	0.0084	0.0003	0.0012548	194	154602	rs138623026	0.0011	0.0011	0.0013	0.0010	0.0369	0.0011	0.0011	0.0351	0.0344	0.0369	0.0026	0	0	0	0.0030	0.0001	0.0029	0.0001	0.0100	0.0100	0.0099	0.0101	0.0332	0.0096	0.0094	0.0317	0.0311	0.0332	0	0.0072	0	0	0	0.0136	0.0002	0.0090	0.0002	0.0	0.91255	D	.	.	.	0.994	0.66517	D	0.985	0.76457	D	.	.	.	.	0.866215	0.35478	D	3.785	0.95291	H	1.4	0.33630	T	-6.0	0.89534	D	0.833	0.82862	-0.3778	0.72721	T	0.113	0.40238	T	9	0.012037545	0.00260	T	.	.	.	0.722	0.90191	.	.	0.646728458513	0.64380	.	.	.	.	0.828331232071	0.86307	D	0.181108	0.53268	T	-0.0745708	0.40594	T	0.148676	0.80100	D	0.0800500473995925	0.09994	T	0.910209	0.68156	D	0.85697854	0.87857	0.8870537	0.94058	0.85697854	0.87858	0.8870537	0.94059	-13.96	0.92926	D	.	.	0.978	0.90774	P	.;.	.;.	4.554964	0.71721	25.7	0.98346830312057909	0.40497	0.99585	0.97709	D	AEFBI	0.911641	0.87119	D	0.923991866157188	0.92885	11.688	0.829578726015096	0.91767	11.05807	0.999999931129453	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.08	5.08	0.68373	8.739000	0.91269	9.717000	0.81353	0.686000	0.82685	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.842	0.69865	270	0.89404	Dynein heavy chain, hydrolytic ATP-binding dynein motor region D1|AAA+ ATPase domain;Dynein heavy chain, hydrolytic ATP-binding dynein motor region D1|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	530.98	48	chr3	57446077	.	A	G	530.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.609e+00;DP=831;ExcessHet=0.0000;FS=2.495;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.32;ReadPosRankSum=0.464;SOR=0.384	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1145	20	0	1	0
chr3	57641683	57641683	T	C	exonic	DENND6A	.	nonsynonymous SNV	DENND6A:NM_152678:exon12:c.A1102G:p.I368V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.279	B	0.217	B	0.000	D	1.000	D	0.425	N	.	.	-0.980	T	0.130	T	0.534	2.573	14.56	5.26	2.115	7.519	15.453	0.144	0.00606356876668	.	.	2.471e-05	0	0	0	0	1.499e-05	0	0.0001	1.94e-05	3	154602	rs774938333	1.78e-05	1.779e-05	6.811e-06	2.889e-05	0.0003	1.238e-05	1.052e-05	0.0002	0.0002	0	0	0	2.522e-05	0	0	0	1.658e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.248	0.23845	T	0.279	0.32056	B	0.217	0.37636	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.635	0.41844	L	.	.	.	-0.55	0.16799	N	0.669	0.67736	-0.9798	0.35048	T	0.130	0.43907	T	9	0.43108678	0.57495	T	0.006064	0.15846	T	0.144	0.38394	0.503	0.59615	0.218628672733	0.21463	0.33210949691023434	0.33123	0.740148035637	0.63215	0.740899562836	0.73106	T	0.030909	0.21799	T	-0.133414	0.30945	T	-0.192748	0.55332	T	0.608383417129517	0.36735	D	0.882912	0.60466	D	0.13757399	0.31850	0.12853716	0.30923	0.13757399	0.31849	0.12853716	0.30923	-7.495	0.57575	T	.	.	0.106	0.19800	B	.	.	3.304217	0.45370	22.1	0.99277197726802624	0.57765	0.98302	0.81423	D	AEDBI	0.833815	0.75196	D	0.0209813119006452	0.42809	2.586454	0.208093046317925	0.50297	3.223161	0.999999921204647	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.26	5.26	0.73479	7.583000	0.81848	7.872000	0.72015	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.453	0.75018	201	0.92177	Tripartite DENN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	365.98	34	chr3	57641683	.	T	C	365.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.400e-01;DP=738;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.32;ReadPosRankSum=0.030;SOR=0.728	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1093	20	0	1	0
chr3	58123253	58123253	C	T	exonic	FLNB	.	nonsynonymous SNV	FLNB:NM_001164317:exon21:c.C3287T:p.S1096F	Atelosteogenesis, type I, Autosomal dominant;Atelosteogenesis, type III, Autosomal dominant;Boomerang dysplasia, Autosomal dominant;Larsen syndrome, Autosomal dominant;Spondylocarpotarsal synostosis syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	889499	FLNB-Related_Spectrum_Disorders|not_provided	MedGen:CN239400|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.605	H	-1.93	D	0.868	D	0.838	D	0.979	4.008	20.5	5.66	2.824	7.772	20.116	0.836	0.212334093352	.	.	1.648e-05	0	0	0	0	1.499e-05	0	6.056e-05	1.29e-05	2	154602	rs749249092	5.472e-06	5.472e-06	6.806e-06	4.125e-06	5.396e-06	2.35e-06	1.7e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	3.311e-05	0	6.567e-06	6.562e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.0	0.91255	D	0.001	0.83351	D	0.999	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.54	0.93167	H	-1.93	0.84842	D	-4.33	0.77470	D	0.879	0.89912	0.868	0.95246	D	0.838	0.94592	D	10	0.8749278	0.86778	D	0.212334	0.87350	D	0.836	0.94840	0.521	0.62368	0.971603011503	0.97129	0.663924954692608	0.66329	0.946704540343	0.72437	0.887206554413	0.94907	D	0.809667	0.95230	D	0.459366	0.92898	D	0.437557	0.93254	D	0.992561519145966	0.83076	D	0.959604	0.84807	D	0.61770636	0.73640	0.66202015	0.80193	0.61770636	0.73641	0.66202015	0.80194	-9.313	0.70853	D	0.6809258782522973	0.75729	0.458	0.65850	A	.;.;.;.;.	.;.;.;.;.	4.666417	0.74536	26.2	0.99841611973354616	0.92229	0.96067	0.67383	D	AEFDGBHCI	0.936467	0.93282	D	0.923032134360262	0.92840	11.66168	0.82028715274025	0.91168	10.75152	1.0	0.98316	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.66	5.66	0.87293	7.902000	0.86082	7.622000	0.62351	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.335000	0.25317	0.0:1.0:0.0:0.0	20.116	0.97929	416	0.81733	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1965.98	33	chr3	58123253	.	C	T	1965.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=886;ExcessHet=0.0000;FS=0.547;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.74;ReadPosRankSum=-8.740e-01;SOR=0.755	GT:AD:DP:GQ:PL	0/1:104,79:183:99:1980,0,2655	20	0	1	0
chr3	58124374	58124374	G	A	exonic	FLNB	.	nonsynonymous SNV	FLNB:NM_001164317:exon22:c.G3767A:p.R1256Q	Atelosteogenesis, type I, Autosomal dominant;Atelosteogenesis, type III, Autosomal dominant;Boomerang dysplasia, Autosomal dominant;Larsen syndrome, Autosomal dominant;Spondylocarpotarsal synostosis syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	537427	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.946	P	0.593	P	0.000	D	1.000	D	2.66	M	-2.08	D	0.493	D	0.692	D	0.802	4.848	27.6	5.69	2.696	4.541	13.065	0.608	0.0444380777435	0.0002	.	4.942e-05	0	0	0.0001	0	5.994e-05	0.0011	0	3.88e-05	6	154602	rs148506076	3.215e-05	3.215e-05	2.859e-05	3.575e-05	7.557e-05	2.478e-05	2.22e-05	2.711e-05	2.387e-05	0	0	0	7.557e-05	0	0	3.597e-05	3.311e-05	2.319e-05	3.943e-05	3.94e-05	6.423e-05	1.346e-05	9.655e-05	1.716e-05	1.13e-05	3.25e-05	1.915e-05	9.655e-05	0	0	0	0	0	0	2.939e-05	0	0	0.022	0.50676	D	0.041	0.52389	D	0.751	0.43285	P	0.468	0.46719	P	0.000000	0.84330	D	0.053652	0.999993	0.58761	D	2.85	0.82803	M	-2.08	0.86010	D	-2.81	0.59389	D	0.541	0.56833	0.493	0.90454	D	0.692	0.89371	D	10	0.5886044	0.66252	D	0.044438	0.61487	D	0.608	0.84613	.	.	0.89083720142	0.88976	0.5587694043859588	0.55803	0.293203910045	0.31741	0.35602337122	0.18805	T	0.672977	0.90315	D	0.094706	0.63715	D	0.123964	0.78497	D	0.426488190889359	0.29930	T	0.964504	0.86839	D	0.30175367	0.53061	0.18931778	0.42272	0.30175367	0.53061	0.18931778	0.42271	-8.668	0.65942	D	0.29187601086167	0.38851	0.100	0.17275	B	.;.;.;.;.	.;.;.;.;.	3.973501	0.58361	24.0	0.99946201047111849	0.99901	0.92599	0.56091	D	AEFDGBCI	0.690919	0.65109	D	0.488764183305319	0.66431	4.949428	0.511848766693466	0.68785	5.268413	0.999999999999563	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.69	5.69	0.88346	4.636000	0.61037	11.842000	0.97836	0.676000	0.76740	0.928000	0.32210	1.000000	0.68203	0.068000	0.16518	0.0733:0.0:0.9267:0.0	13.065	0.58436	415	0.81806	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1636.98	43	chr3	58124374	.	G	A	1636.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.910e-01;DP=826;ExcessHet=0.0000;FS=3.492;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.99;ReadPosRankSum=-6.100e-02;SOR=1.102	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1126	20	0	1	0
chr3	58148262	58148262	G	A	exonic	FLNB	.	nonsynonymous SNV	FLNB:NM_001164319:exon34:c.G5713A:p.D1905N	Atelosteogenesis, type I, Autosomal dominant;Atelosteogenesis, type III, Autosomal dominant;Boomerang dysplasia, Autosomal dominant;Larsen syndrome, Autosomal dominant;Spondylocarpotarsal synostosis syndrome, Autosomal recessive	.	0	1500	22	0	0	22	0.00727995	.	.	709003	FLNB-Related_Spectrum_Disorders|not_provided|Connective_tissue_disorder	MedGen:CN239400|MedGen:C3661900|MONDO:MONDO:0003900,MedGen:C0009782	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.63	T	1.0	D	0.996	D	0.000	D	1.000	D	0.255	N	-1.78	D	-0.030	T	0.619	D	0.11	4.227	22.0	6.17	2.941	6.640	20.879	0.357	.	0.0005	0.00419329	0.0023	0	0.0010	0	0	0.0003	0.0044	0.0146	0.0020051	310	154602	rs146685642	0.0012	0.0012	0.0008	0.0016	0.0161	0.0011	0.0011	0.0154	0.0151	8.961e-05	0.0005	0.0002	0	0	0.0036	0.0002	0.0013	0.0161	0.0008	0.0008	0.0004	0.0011	0.0174	0.0006	0.0006	0.0144	0.0133	4.812e-05	0	0.0005	0.0006	0	0	0.0170	0.0002	0.0009	0.0174	0.336	0.12878	T	0.597	0.08161	T	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.695	0.17993	N	-2.07	0.85943	D	-0.43	0.14390	N	0.565	0.72031	-0.0302	0.81626	T	0.619	0.86572	D	10	0.009554356	0.00215	T	.	.	.	0.357	0.67782	.	.	0.93585064125	0.93518	0.5303850714494975	0.52962	0.889866329626	0.70182	0.816300868988	0.84461	D	0.253667	0.62422	T	-0.380302	0.03102	T	-0.30673	0.44009	T	0.0605530186102167	0.07255	T	0.948505	0.80194	D	0.14024082	0.32364	0.11657075	0.28140	0.13069642	0.30487	0.12091532	0.29176	-5.871	0.46811	T	0.2299922566662045	0.31115	0.237	0.47083	B	.;.;.;.;.	.;.;.;.;.	5.047950	0.84062	28.2	0.99882865391497977	0.95892	0.95362	0.64424	D	AEFDGBCI	0.846596	0.76347	D	0.353021634451226	0.58899	4.065119	0.502649411017683	0.68169	5.183078	0.999999999998955	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.741806	0.99463	0	.	.	6.17	6.17	0.99707	6.759000	0.74730	5.905000	0.50941	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	20.879	0.99870	499	0.76092	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1071.98	33	chr3	58148262	.	G	A	1071.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.62;DP=792;ExcessHet=0.0000;FS=0.782;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=-7.960e-01;SOR=0.804	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1115	20	0	1	0
chr3	58148789	58148789	C	T	exonic	FLNB	.	nonsynonymous SNV	FLNB:NM_001164319:exon35:c.C5956T:p.R1986C	Atelosteogenesis, type I, Autosomal dominant;Atelosteogenesis, type III, Autosomal dominant;Boomerang dysplasia, Autosomal dominant;Larsen syndrome, Autosomal dominant;Spondylocarpotarsal synostosis syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	795463	not_provided|Spondylocarpotarsal_synostosis_syndrome|FLNB-Related_Spectrum_Disorders	MedGen:C3661900|MONDO:MONDO:0010094,MedGen:C1848934,OMIM:272460,Orphanet:3275|MedGen:CN239400	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.945	D	0.007	N	1.000	D	0.55	N	-1.92	D	0.300	D	0.619	D	0.498	4.389	23.2	5.99	2.840	3.231	20.478	0.481	0.0579027307783	7.7e-05	0.000199681	0.0003	0.0003	0.0003	0	0	0.0003	0.0011	0.0006	0.0002458	38	154602	rs138034708	0.0001	0.0001	0.0001	0.0002	0.0028	0.0001	0.0001	0.0017	0.0014	0.0004	0.0002	0.0003	0	0	0.0028	8.903e-05	0.0004	0.0004	0.0001	0.0001	7.71e-05	0.0002	0.0003	9.145e-05	7.701e-05	0.0001	8.282e-05	0.0001	0	0.0003	0	0	0	0	0.0001	0.0009	0	0.021	0.49117	D	0.032	0.53788	D	0.999	0.77913	D	0.849	0.63994	P	0.006517	0.31983	N	0.379586	0.999758	0.48888	D	0.895	0.22405	L	-1.92	0.84773	D	-3.6	0.70191	D	0.555	0.70966	0.300	0.87553	D	0.619	0.86559	D	10	0.33929753	0.51019	T	0.057903	0.67131	D	0.481	0.77142	.	.	0.907696214181	0.90677	0.45604988122069645	0.45522	0.932039959237	0.71862	0.553962826729	0.46416	T	0.73193	0.92504	D	-0.155314	0.27482	T	-0.132914	0.60726	T	0.112456031143665	0.13676	T	0.983402	0.94639	D	0.2090826	0.43164	0.20875661	0.45192	0.2090826	0.43164	0.20875661	0.45191	-8.529	0.65010	D	0.17818408462602342	0.22824	0.142	0.31304	B	.;.;.;.;.	.;.;.;.;.	4.855655	0.79407	27.1	0.99934517465582462	0.99535	0.88561	0.48546	D	AEFDGBCI	0.559178	0.56810	D	0.54586568376157	0.69831	5.413199	0.610959799776502	0.75734	6.363275	0.999999959245307	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.99	5.99	0.97299	3.302000	0.51557	2.689000	0.34074	0.599000	0.40250	0.988000	0.36536	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	20.478	0.99191	503	0.75780	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1595.98	37	chr3	58148789	.	C	T	1595.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.87;DP=890;ExcessHet=0.0000;FS=1.265;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.17;ReadPosRankSum=0.137;SOR=0.583	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1320	20	0	1	0
chr3	58163173	58163173	C	A	exonic	FLNB	.	nonsynonymous SNV	FLNB:NM_001164319:exon42:c.C6969A:p.F2323L	Atelosteogenesis, type I, Autosomal dominant;Atelosteogenesis, type III, Autosomal dominant;Boomerang dysplasia, Autosomal dominant;Larsen syndrome, Autosomal dominant;Spondylocarpotarsal synostosis syndrome, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	291363	FLNB-Related_Spectrum_Disorders|not_provided	MedGen:CN239400|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.989	D	0.827	P	0.000	D	1.000	D	3.64	H	-2.92	D	0.836	D	0.867	D	0.875	2.078	12.91	2.62	0.776	2.178	9.118	0.819	0.619735841105	0.0004	0.000399361	0.0006	0	0.0005	0.0001	0.0002	0.0008	0	0.0007	0.0005563	86	154602	rs139325959	0.0005	0.0005	0.0005	0.0005	0.0006	0.0005	0.0004	0.0005	0.0005	2.987e-05	0.0005	0	0	0.0002	0.0005	0.0005	0.0004	0.0006	0.0004	0.0004	0.0004	0.0003	0.0008	0.0003	0.0003	0.0005	0.0005	4.81e-05	0	0.0003	0	0	0	0	0.0007	0.0009	0.0008	0.009	0.72154	D	0.002	0.79402	D	0.343	0.35524	B	0.457	0.46994	P	0.000000	0.84330	D	0.085942	0.999964	0.81001	D	4	0.96753	H	-2.92	0.91748	D	-5.23	0.83899	D	0.795	0.86191	0.836	0.94850	D	0.867	0.95570	D	10	0.544053	0.63882	D	0.619736	0.96704	D	0.819	0.94200	0.878	0.96734	0.907146702657	0.90621	0.7181845656283848	0.71761	0.664439988566	0.59081	0.812714219093	0.83908	D	0.91636	0.98466	D	0.149337	0.69205	D	0.345485	0.90137	D	0.312008829859245	0.25497	T	0.995	0.98241	D	0.6150099	0.73497	0.505847	0.71439	0.6150099	0.73498	0.505847	0.71439	-13.405	0.90962	D	.	.	0.996	0.96223	P	.;.;.;.;.	.;.;.;.;.	3.947488	0.57808	23.9	0.99032708541698877	0.50830	0.93401	0.58119	D	AEFGBHCIJ	0.726830	0.67537	D	-0.0160203433218901	0.41130	2.454767	-0.0619533859048216	0.36978	2.158986	0.999965420133808	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.723	0.93126	0	.	.	5.39	2.62	0.30337	2.229000	0.42634	2.215000	0.31401	-0.773000	0.03420	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:0.6498:0.0:0.3502	9.118	0.35930	617	0.66297	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1690.98	36	chr3	58163173	.	C	A	1690.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.822;DP=816;ExcessHet=0.0000;FS=7.079;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=-1.717e+00;SOR=1.326	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr3	58170691	58170691	G	A	exonic	FLNB	.	nonsynonymous SNV	FLNB:NM_001164319:exon45:c.G7666A:p.D2556N	Atelosteogenesis, type I, Autosomal dominant;Atelosteogenesis, type III, Autosomal dominant;Boomerang dysplasia, Autosomal dominant;Larsen syndrome, Autosomal dominant;Spondylocarpotarsal synostosis syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1396204	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.62	T	0.236	B	0.142	B	0.002	N	1.000	D	1.455	L	-1.89	D	-0.342	T	0.463	T	0.065	0.755	7.998	3.98	1.400	5.196	15.643	0.282	0.0959621614098	.	.	3.296e-05	0	0	0	0	1.499e-05	0	0.0002	2.59e-05	4	154602	rs758182239	1.505e-05	1.505e-05	1.225e-05	1.788e-05	9.275e-05	9.85e-06	8.41e-06	4.578e-05	3.272e-05	5.974e-05	0	3.826e-05	5.038e-05	0	0	7.194e-06	1.656e-05	9.275e-05	6.572e-06	1.313e-05	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.574	0.08237	T	0.269	0.44702	T	0.102	0.25827	B	0.031	0.21939	B	0.001806	0.37945	N	0.310964	0.999967	0.81001	D	0.83	0.20963	L	-1.89	0.84557	D	-1.6	0.38540	N	0.205	0.27197	-0.3423	0.73777	T	0.463	0.79184	T	10	0.2757718	0.45137	T	0.095962	0.76519	D	0.282	0.59981	.	.	0.790952874218	0.78900	0.13980965621080677	0.13903	0.25712712835	0.28284	0.433788686991	0.29727	T	0.514585	0.82906	D	-0.223894	0.17464	T	-0.377857	0.35973	T	0.108336135745049	0.13250	T	0.924807	0.72410	D	0.05545716	0.10781	0.06778597	0.14068	0.05545716	0.10781	0.06778597	0.14068	-3.376	0.16614	T	.	.	0.078	0.16670	B	.;.;.;.;.;.	.;.;.;.;.;.	4.555924	0.71747	25.7	0.80229888073823163	0.13105	0.88191	0.48010	D	AEFGBCI	0.755039	0.69473	D	-0.432072174991402	0.24353	1.314	-0.323761931585441	0.27334	1.515962	0.99999998655143	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	4.86	3.98	0.45383	5.523000	0.66813	9.848000	0.81969	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.788000	0.37229	0.0:0.1377:0.8623:0.0	15.643	0.76778	613	0.66686	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2014.98	38	chr3	58170691	.	G	A	2014.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.300e-02;DP=895;ExcessHet=0.0000;FS=0.554;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=-1.231e+00;SOR=0.633	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1270	20	0	1	0
chr3	58205503	58205503	G	T	exonic	DNASE1L3	.	nonsynonymous SNV	DNASE1L3:NM_004944:exon3:c.C288A:p.N96K,	Systemic lupus erythematosus 16, Autosomal recessive	.	0	1515	7	0	0	7	0.00230491	.	.	1154541	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.54	T	0.002	B	0.011	B	0.000	N	0.960	N	0.47	N	0.34	T	-1.074	T	0.020	T	0.174	-0.590	1.356	-3.87	-0.693	-1.185	0.796	0.062	.	0.0024	0.0119808	0.0101	0.0018	0.0585	0.0354	0.0086	0.0023	0.0088	0.0007	0.0096506	1492	154602	rs12491947	0.0060	0.0060	0.0063	0.0057	0.0575	0.0059	0.0059	0.0556	0.0548	0.0013	0.0575	0.0042	0.0411	0.0104	0.0007	0.0031	0.0051	0.0012	0.0076	0.0076	0.0067	0.0084	0.0391	0.0072	0.0070	0.0365	0.0355	0.0015	0	0.0391	0.0029	0.0349	0.0091	0	0.0027	0.0066	0.0008	0.537	0.06869	T	0.747	0.04860	T	0.002	0.09854	B	0.005	0.11217	B	0.000213	0.47681	N	0.145914	0.999978	0.26170	N	0.94	0.23649	L	0.34	0.58176	T	0.03	0.14978	N	0.168	0.17828	-1.0740	0.08556	T	0.020	0.08360	T	10	0.0027559996	0.00043	T	.	.	.	0.062	0.17934	0.223	0.14665	.	.	0.325017992545078	0.32414	.	.	0.481785386801	0.36303	T	0.071187	0.34145	T	-0.561672	0.00248	T	-0.536322	0.18660	T	0.00174475068495326	0.00018	T	0.652235	0.35940	T	0.11605507	0.27379	0.05162217	0.08343	0.11605507	0.27378	0.05162217	0.08342	-4.602	0.32197	T	.	.	0.159	0.38516	B	.;.;.;.	.;.;.;.	0.028219	0.04481	1.194	0.42946432029465342	0.03200	0.03058	0.07960	N	AEFBI	0.303523	0.41148	N	-1.26091983491909	0.04157	0.1870961	-1.24250464811608	0.05243	0.2493488	0.999807457215722	0.43304	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.77	-3.87	0.03939	-1.369000	0.02684	-0.109000	0.11851	-0.157000	0.11712	0.000000	0.06391	0.102000	0.22686	0.954000	0.50415	0.3063:0.1501:0.3204:0.2232	0.796	0.00999	598	0.68232	Endonuclease/exonuclease/phosphatase;Endonuclease/exonuclease/phosphatase;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1188.98	33	chr3	58205503	.	G	T	1188.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.365;DP=797;ExcessHet=0.0000;FS=0.742;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=0.807;SOR=0.776	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1325	20	0	1	0
chr3	58410115	58410115	A	T	exonic	PXK	.	nonsynonymous SNV	PXK:NM_001289101:exon13:c.A1010T:p.N337I	.	.	425	1006	84	7	0	98	0.0464455	.	.	698265	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.19	T	0.873	P	0.522	P	0.091	N	0.981	N	-0.895	N	2.97	T	-1.130	T	0.037	T	0.366	2.231	13.42	4.77	2.268	3.383	3.751	0.062	.	0.0061	0.00938498	0.0100	0.0005	0.0051	0.0001	0.0005	0.0071	0.0166	0.0396	0.0090361	1397	154602	rs140203295	0.0070	0.0071	0.0058	0.0083	0.0404	0.0069	0.0069	0.0393	0.0388	0.0008	0.0048	0.0152	0.0001	0.0014	0.0397	0.0048	0.0090	0.0404	0.0052	0.0052	0.0049	0.0054	0.0402	0.0049	0.0048	0.0356	0.0338	0.0005	0	0.0062	0.0193	0.0004	0.0011	0.0408	0.0055	0.0061	0.0402	0.189	0.41915	T	0.329	0.48336	T	0.003	0.35474	B	0.002	0.41396	B	0.090595	0.20368	N	0.575787	0.980644	0.25097	N	0.805	0.20218	L	2.97	0.50976	T	-1.47	0.97995	N	0.393	0.47115	-1.1302	0.01772	T	0.037	0.15943	T	10	0.0034009814	0.00059	T	.	.	.	0.101	0.28911	.	.	0.525991642533	0.52246	0.22060369571048527	0.21975	0.33564811506	0.35560	0.551083683968	0.46010	T	0.002897	0.40318	T	-0.432092	0.01440	T	-0.36417	0.37570	T	0.0238539316806345	0.01126	T	0.865113	0.57764	D	0.083946615	0.19406	0.05076319	0.08032	0.083946615	0.19406	0.05076319	0.08031	-3.109	0.11399	T	.	.	0.091	0.38906	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.187903	0.43297	21.7	0.9717033229360339	0.32673	0.91707	0.54093	D	AEFBI	0.308053	0.41475	N	-0.17860360165214	0.34027	1.937292	0.0645200009892415	0.42780	2.593573	0.999890105895091	0.45129	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.9	4.77	0.60425	3.456000	0.52764	5.312000	0.48266	0.741000	0.86335	0.998000	0.41325	1.000000	0.68203	0.995000	0.73285	0.7798:0.0:0.2202:0.0	3.751	0.08092	335	0.86220	Protein kinase domain;Protein kinase domain;.;Protein kinase domain;Protein kinase domain;.;Protein kinase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3228.11	33	chr3	58410115	.	A	T	3228.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-8.730e-01;DP=882;ExcessHet=0.1072;FS=0.526;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.45;ReadPosRankSum=0.031;SOR=0.767	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1173	19	0	2	0
chr3	58653691	58653691	C	T	exonic	FAM3D	.	nonsynonymous SNV	FAM3D:NM_138805:exon3:c.G104A:p.R35H,	.	.	415	1089	18	0	0	18	0.00819672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.992	D	0.599	P	0.009	N	0.620	D	1.7	L	1.85	T	-0.811	T	0.115	T	0.349	3.164	16.58	3.38	1.156	1.522	9.779	0.063	.	0.0068	0.00259585	0.0071	0.0018	0.0030	0.0001	0.0057	0.0107	0.0033	0.0032	0.0067981	1051	154602	rs13097314	0.0071	0.0071	0.0071	0.0071	0.0081	0.0070	0.0069	0.0080	0.0079	0.0010	0.0047	0.0005	0.0004	0.0069	0.0042	0.0081	0.0065	0.0030	0.0054	0.0054	0.0056	0.0051	0.0085	0.0051	0.0049	0.0079	0.0077	0.0015	0	0.0062	0.0006	0.0002	0.0057	0	0.0085	0.0052	0.0027	0.105	0.47320	T	0.292	0.20877	T	0.992	0.64738	D	0.599	0.50715	P	0.008602	0.30756	N	0.262588	0.619856	0.32695	D	2.005	0.54552	M	0.6	0.53731	T	-1.2	0.40082	N	0.289	0.32701	-0.8114	0.54466	T	0.115	0.40763	T	10	0.0070091486	0.00159	T	.	.	.	0.063	0.18251	.	.	0.607205898885	0.60405	0.42217253051544185	0.42134	0.130150782498	0.14680	0.343895494938	0.17019	T	0.02659	0.20767	T	-0.42537	0.01582	T	-0.375829	0.36210	T	0.0180318163346801	0.00527	T	0.755524	0.37862	T	0.0651721	0.13902	0.05647457	0.10099	0.0651721	0.13901	0.05647457	0.10098	-3.607	0.17958	T	.	.	0.118	0.28807	B	.;.;.	.;.;.	3.421100	0.47502	22.5	0.99870505638251272	0.94815	0.76413	0.37474	D	AEFBI	0.170758	0.29769	N	0.0978670330124511	0.46363	2.877822	0.0763986621505273	0.43364	2.639726	0.00330133000668038	0.10046	0.516011	0.20929	0	0.563428	0.19063	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.26	3.38	0.37806	1.425000	0.34467	0.981000	0.23125	0.589000	0.31548	0.968000	0.34134	0.448000	0.24938	0.640000	0.32422	0.2049:0.795:0.0:0.0	9.779	0.39804	872	0.31118	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1126.98	33	chr3	58653691	.	C	T	1126.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.689;DP=806;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.72;ReadPosRankSum=0.014;SOR=0.740	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1202	20	0	1	0
chr3	58653748	58653748	A	G	exonic	FAM3D	.	nonsynonymous SNV	FAM3D:NM_138805:exon3:c.T47C:p.I16T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.001	B	0.003	B	0.924	N	1.000	N	0	N	1.93	T	-1.026	T	0.069	T	0.418	0.778	8.109	3.1	0.796	2.739	6.747	0.155	0.0102135150005	.	0.000199681	0.0001	0	0	0.0001	0	0	0	0.0008	0.0001035	16	154602	rs567619603	3.9e-05	3.899e-05	3.948e-05	3.851e-05	0.0005	3.047e-05	2.783e-05	0.0004	0.0003	0	0	3.826e-05	2.519e-05	0	0.0002	2.698e-06	0.0002	0.0005	1.313e-05	1.312e-05	2.569e-05	0	0.0004	2.18e-06	8.2e-07	7.287e-05	3.028e-05	0	0	0	0	0	0	0	0	0	0.0004	0.016	0.63226	D	0.074	0.42976	T	0.001	0.07471	B	0.003	0.08700	B	0.923968	0.08467	N	0.956622	1	0.08975	N	0	0.06538	N	0.66	0.52416	T	-1.86	0.47683	N	0.149	0.15187	-1.0259	0.21788	T	0.069	0.28313	T	10	0.04154092	0.02818	T	0.010214	0.26478	T	0.155	0.40530	0.393	0.41770	0.143124449307	0.13826	0.5103373509591925	0.50955	0.121018444823	0.13633	0.346411317587	0.17391	T	0.035991	0.24335	T	-0.35586	0.04370	T	-0.420984	0.30961	T	0.544060826301575	0.34255	D	0.430157	0.12757	T	0.06220193	0.12966	0.06822648	0.14220	0.06220193	0.12966	0.06822648	0.14219	-3.248	0.13076	T	.	.	0.098	0.16187	B	.;.;.	.;.;.	1.728057	0.21993	15.44	0.51195028100382611	0.04519	0.13685	0.17995	N	AEFDGBI	0.136032	0.25657	N	-1.08172240726726	0.06980	0.3229046	-1.04600107093841	0.08790	0.4339503	0.00673313385030301	0.11294	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.26	3.1	0.34780	2.780000	0.47429	5.842000	0.50257	-0.081000	0.16260	0.088000	0.22533	0.648000	0.25949	0.009000	0.08673	0.8917:0.0:0.1083:0.0	6.747	0.22653	872	0.31118	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1594.98	33	chr3	58653748	.	A	G	1594.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=810;ExcessHet=0.0000;FS=0.787;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.34;ReadPosRankSum=-4.300e-02;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1530	20	0	1	0
chr3	62481756	62481756	G	A	exonic	CADPS	.	nonsynonymous SNV	CADPS:NM_003716:exon22:c.C3140T:p.A1047V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.295	B	0.068	B	0.000	D	1.000	D	0.755	N	1.53	T	-0.875	T	0.204	T	0.463	2.889	15.63	5.28	2.641	9.420	19.279	0.163	0.0144582519176	.	.	8.282e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs774966536	6.865e-06	8.209e-06	6.827e-06	6.902e-06	8.105e-06	3.47e-06	2.53e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.105e-06	1.661e-05	0	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.231	0.18246	T	0.321	0.19073	T	0.295	0.32424	B	0.068	0.27651	B	0.000026	0.55875	D	0.121462	0.999992	0.81001	D	0.695	0.17993	N	1.53	0.30401	T	-0.37	0.13226	N	0.589	0.60918	-0.8750	0.50150	T	0.204	0.56114	T	10	0.358016	0.52504	T	0.014458	0.34591	T	0.163	0.42028	0.285	0.24280	0.493021045079	0.48934	0.2912655038093022	0.29039	0.943520176759	0.72310	0.766231536865	0.76860	T	0.14286	0.47867	T	-0.0916574	0.37802	T	-0.369436	0.36955	T	0.843794703483582	0.49640	D	0.888211	0.61727	D	0.16113415	0.36102	0.17036565	0.39141	0.16113415	0.36101	0.17036565	0.39140	-6.032	0.46546	T	.	.	0.189	0.40683	B	.	.	4.972734	0.82304	27.8	0.99338508198230757	0.60091	0.98888	0.88198	D	AEFI	0.955590	0.97354	D	0.415872961517509	0.62293	4.443024	0.534304323573482	0.70314	5.486898	0.999999964253427	0.74766	0.559995	0.30671	0	0.59043	0.45803	0	0.527494	0.11647	0	0.564101	0.26826	0	.	.	5.28	5.28	0.74118	9.516000	0.97042	11.893000	0.99147	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.279	0.94029	713	0.56348	Munc13 homology 1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3194.98	34	chr3	62481756	.	G	A	3194.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.768e+00;DP=920;ExcessHet=0.0000;FS=5.655;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.26;ReadPosRankSum=0.862;SOR=1.052	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1321	20	0	1	0
chr3	62481846	62481846	T	A	exonic	CADPS	.	nonsynonymous SNV	CADPS:NM_003716:exon22:c.A3050T:p.N1017I,	.	.	420	1093	8	1	0	10	0.00455373	.	.	3221763	CADPS-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.856	P	0.282	B	0.000	D	1.000	D	0.6	N	1.44	T	-1.122	T	0.046	T	0.535	2.234	13.43	4.1	0.929	5.862	11.517	0.126	0.0164449506937	0.0020	0.00139776	0.0024	0.0008	0.0014	0	0.0002	0.0027	0.0011	0.0050	0.0023092	357	154602	rs77008736	0.0035	0.0035	0.0034	0.0035	0.0049	0.0034	0.0034	0.0041	0.0039	0.0007	0.0025	0.0018	0	0.0002	0.0049	0.0039	0.0030	0.0044	0.0026	0.0026	0.0025	0.0026	0.0048	0.0023	0.0023	0.0040	0.0036	0.0008	0	0.0048	0.0029	0	0.0002	0	0.0036	0.0038	0.0033	0.003	0.68238	D	0.062	0.45318	T	0.856	0.47190	P	0.282	0.40384	B	0.000007	0.62929	D	0.107269	0.999566	0.81001	D	1.59	0.40313	L	1.44	0.32722	T	-0.97	0.25770	N	0.84	0.83576	-1.1217	0.02227	T	0.046	0.19720	T	10	0.018475682	0.00402	T	0.016445	0.37712	T	0.126	0.34673	.	.	0.590373781641	0.58713	0.30313581878288126	0.30226	1.33314862039	0.83684	0.681597173214	0.64497	T	0.141672	0.47685	T	-0.382895	0.02987	T	-0.322238	0.42329	T	0.021934881690377	0.00901	T	0.967303	0.88169	D	0.30757862	0.53576	0.30972397	0.56985	0.30757862	0.53576	0.30972397	0.56984	-9.097	0.68318	D	.	.	0.284	0.51652	B	.	.	4.399969	0.67970	25.2	0.98614384870472149	0.43691	0.94962	0.62939	D	AEFGI	0.817108	0.73867	D	0.143983525474718	0.48528	3.063921	0.233643928090761	0.51722	3.352478	0.916540553373837	0.26515	0.559995	0.30671	0	0.59043	0.45803	0	0.527494	0.11647	0	0.564101	0.26826	0	.	.	5.28	4.1	0.47196	5.820000	0.68932	6.220000	0.55115	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0715:0.0:0.9285	11.517	0.49775	714	0.56256	Munc13 homology 1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2730.98	34	chr3	62481846	.	T	A	2730.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.530e-01;DP=901;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.65;ReadPosRankSum=2.61;SOR=0.655	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1321	20	0	1	0
chr3	63912714	63912714	-	GCC	exonic	ATXN7	.	nonframeshift insertion	ATXN7:NM_001177387:exon2:c.116_117insGCC:p.P43_Q44insP	Spinocerebellar ataxia 7, Autosomal dominant	.	30	1415	44	2	31	79	0.0166782	.	.	2827531	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0151	0	0	0	0.0049	0.0169	0.125	0.0165	0.0008085	125	154602	rs770364745	0.0074	0.0063	0.0073	0.0075	0.0273	0.0072	0.0072	0.0223	0.0205	0.0021	0.0049	0.0091	0.0008	0.0031	0.0273	0.0077	0.0079	0.0069	0.0079	0.0079	0.0079	0.0079	0.0167	0.0075	0.0074	0.0150	0.0143	0.0022	0.0176	0.0167	0.0091	0.0006	0.0026	0.0350	0.0104	0.0132	0.0063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	397.94	15	chr3	63912714	.	A	AGCC	397.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.539e+00;DP=510;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.11;ReadPosRankSum=-8.170e-01;SOR=0.387	GT:AD:DP:GQ:PL	0/0:20,0:20:57:0,57,855	20	0	1	0
chr3	63912809	63912809	T	G	exonic	ATXN7	.	nonsynonymous SNV	ATXN7:NM_001177387:exon2:c.T211G:p.S71A	Spinocerebellar ataxia 7, Autosomal dominant	.	1	1517	4	0	0	4	0.00131666	.	.	205437	Abnormality_of_neuronal_migration|not_provided	Human_Phenotype_Ontology:HP:0002269,Human_Phenotype_Ontology:HP:0007317,MedGen:C1837249|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.001	B	0.002	B	0.279	N	1.000	N	0.695	N	1.41	T	-0.976	T	0.034	T	0.16	2.655	14.84	1.14	-0.069	.	5.221	0.045	0.0172955138425	0.0007	.	0.0006	0.0001	0	0	0	0.0010	0.0013	0	0.0004269	66	154602	rs201561286	0.0004	0.0004	0.0004	0.0004	0.0007	0.0003	0.0003	0.0002	0.0002	0.0001	0	0.0125	0	0	0.0007	0.0001	0.0012	2.431e-05	0.0005	0.0005	0.0005	0.0004	6.568e-05	0.0004	0.0003	1.981e-05	1.13e-05	4.84e-05	0	6.568e-05	0.0177	0	0	0	5.919e-05	0.0014	0	0.429	0.10980	T	0.114	0.38891	T	0.001	0.07471	B	0.001	0.06944	B	0.279070	0.14979	N	0.598130	0.965872	0.25919	N	0.695	0.17993	N	1.41	0.33412	T	-0.14	0.09135	N	0.174	0.19325	-0.9756	0.35993	T	0.034	0.14596	T	10	0.006044239	0.00136	T	0.017296	0.38942	T	0.045	0.12272	.	.	0.322284741503	0.31843	0.12574496820860298	0.14106	.	.	0.87267267704	0.92949	D	0.069252	0.33663	T	-0.314994	0.07315	T	-0.398095	0.33606	T	0.0604210256057831	0.07235	T	0.30037	0.05618	T	0.09729778	0.22933	0.08364016	0.19182	0.13301006	0.30952	0.093548566	0.22100	-2.814	0.08313	T	.	.	0.067	0.04041	B	.;.;.;.;.	.;.;.;.;.	2.103695	0.26765	17.23	0.96918329780256729	0.31605	0.56856	0.30225	D	AEFDGBHCI	0.084157	0.17054	N	-0.723406012256135	0.15364	0.7736977	-0.594490526011373	0.19635	1.054423	0.999999620142603	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	3.79	1.14	0.19817	0.954000	0.28772	4.183000	0.42351	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.218:0.0:0.2852:0.4968	5.221	0.14687	459	0.78817	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.02381	781.98	33	chr3	63912809	.	T	G	781.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.280e-01;DP=775;ExcessHet=0.0000;FS=1.006;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=0.951;SOR=0.887	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr3	63996449	63996449	C	G	exonic	ATXN7	.	nonsynonymous SNV	ATXN7:NM_001128149:exon8:c.C2192G:p.A731G	Spinocerebellar ataxia 7, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.493	P	0.099	B	0.000	D	0.705	N	0.69	N	0.7	T	-0.945	T	0.093	T	0.274	3.278	17.01	5.07	2.538	5.863	18.880	0.059	0.0125506405596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.44029	D	0.024	0.56640	D	0.361	0.37004	B	0.046	0.30579	B	0.000494	0.43931	D	0.224169	0.704527	0.30072	N	1.79	0.46772	L	0.7	0.51474	T	-0.49	0.15578	N	0.28	0.32259	-0.9448	0.41846	T	0.093	0.35444	T	10	0.18656996	0.34127	T	0.012551	0.31222	T	0.059	0.16972	0.169	0.07419	0.324009150485	0.32011	0.10323457362522455	0.10253	.	.	0.283824563026	0.08031	T	0.135804	0.46782	T	-0.103711	0.35810	T	-0.38675	0.34931	T	0.861159384250641	0.51157	D	0.878312	0.59406	D	0.11083249	0.26195	0.11735197	0.28330	0.11083249	0.26194	0.11735197	0.28329	-3.024	0.10920	T	.	.	0.099	0.16670	B	.;.;.;.;.;.	.;.;.;.;.;.	3.463952	0.48298	22.6	0.99623958462412243	0.75594	0.96200	0.67994	D	AEFDBCI	0.670511	0.63757	D	0.112365521362108	0.47040	2.935283	0.280205254097463	0.54384	3.603623	0.999999921202619	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.07	5.07	0.68106	5.923000	0.69769	6.009000	0.52614	0.599000	0.40250	1.000000	0.71638	0.901000	0.27973	0.998000	0.85391	0.0:1.0:0.0:0.0	18.880	0.92321	491	0.76657	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1863.98	36	chr3	63996449	.	C	G	1863.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.964e+00;DP=1088;ExcessHet=0.0000;FS=6.627;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.68;ReadPosRankSum=1.24;SOR=1.089	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1414	20	0	1	0
chr3	64541599	64541599	T	C	exonic	ADAMTS9	.	nonsynonymous SNV	ADAMTS9:NM_001318781:exon33:c.A5135G:p.K1712R	.	.	429	1075	18	0	0	18	0.00830258	.	.	1241570	not_provided|ADAMTS9-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.11	T	0.006	B	0.03	B	0.004	N	1.000	D	0.56	N	2.25	T	-1.132	T	0.010	T	0.143	0.705	7.761	3.39	0.459	1.366	5.296	0.024	.	0.0013	0.0313498	0.0204	0.0017	0.1036	0.0776	0.0030	0.0012	0.0166	0.0288	0.0194176	3002	154602	rs17070967	0.0078	0.0078	0.0075	0.0081	0.0914	0.0077	0.0077	0.0891	0.0881	0.0014	0.0914	0.0027	0.0835	0.0031	0.0026	0.0006	0.0088	0.0295	0.0099	0.0099	0.0082	0.0117	0.0773	0.0095	0.0093	0.0710	0.0686	0.0025	0	0.0452	0.0038	0.0773	0.0050	0	0.0007	0.0132	0.0361	0.242	0.17940	T	0.323	0.19421	T	0.006	0.13644	B	0.02	0.19048	B	0.004360	0.33837	N	0.318094	0.973815	0.25526	N	1.18	0.29980	L	2.25	0.17761	T	-1.38	0.34198	N	0.068	0.04072	-1.1322	0.01680	T	0.010	0.03492	T	10	0.0030217767	0.00049	T	.	.	.	0.024	0.04979	.	.	.	.	0.28727381798873325	0.28640	0.156171107073	0.17626	0.254748165607	0.04284	T	0.06255	0.31945	T	-0.641738	0.00081	T	-0.62163	0.11057	T	0.00306043882368561	0.00032	T	0.670533	0.27914	T	0.057323724	0.11395	0.073475905	0.15969	0.057323724	0.11395	0.073475905	0.15969	-3.694	0.19230	T	.	.	0.067	0.02578	B	.;.	.;.	1.426334	0.18436	13.74	0.98213520132379695	0.39237	0.68520	0.33833	D	AEFBI	0.242300	0.36377	N	-0.188898386300638	0.33596	1.907781	-0.143802682917285	0.33648	1.926929	0.0174788354325308	0.12955	0.562547	0.31514	0	0.59043	0.45803	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.75	3.39	0.37919	1.178000	0.31590	2.307000	0.32053	0.665000	0.62972	0.998000	0.41325	1.000000	0.68203	0.384000	0.26424	0.13:0.139:0.0:0.731	5.296	0.15062	839	0.37672	Peptidase M12B, GON-ADAMTSs|Peptidase M12B, GON-ADAMTSs;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1822.11	67	chr3	64541599	.	T	C	1822.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.016e+00;DP=1456;ExcessHet=0.1072;FS=2.654;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.80;ReadPosRankSum=0.391;SOR=0.511	GT:AD:DP:GQ:PL	0/1:55,51:106:99:1262,0,1433	19	0	2	0
chr3	64649715	64649715	T	G	exonic	ADAMTS9	.	nonsynonymous SNV	ADAMTS9:NM_001318781:exon9:c.A1443C:p.Q481H	.	.	.	.	.	.	.	.	.	.	.	2352939	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.983	D	0.000	D	1.000	D	2.84	M	3.9	T	-1.160	T	0.042	T	0.405	3.052	16.18	0.767	0.139	0.203	10.868	0.175	0.028682327217	7.7e-05	.	9.074e-05	0	0.0004	0	0	9e-05	0	0	7.76e-05	12	154602	rs200739198	6.499e-05	6.498e-05	7.079e-05	5.913e-05	0.0004	5.428e-05	5.042e-05	0.0003	0.0002	2.987e-05	0.0004	0.0002	0	0	0.0002	6.115e-05	1.656e-05	0	0.0001	0.0001	0.0001	0.0001	0.0003	6.513e-05	5.324e-05	0.0001	8.291e-05	4.826e-05	0	0.0003	0	0	0	0	0.0001	0	0	0.038	0.48186	D	0.066	0.44501	T	0.439	0.35873	B	0.105	0.31087	B	0.000008	0.62929	D	0.065847	0.999989	0.54805	D	2.98	0.85499	M	3.9	0.03516	T	-3.2	0.64710	D	0.712	0.71498	-1.1597	0.00763	T	0.042	0.17869	T	10	0.51364875	0.62241	D	0.028682	0.51317	D	0.175	0.44197	0.407	0.44066	0.525049811399	0.52150	0.8228237572267979	0.82239	0.659582380596	0.58814	0.578200221062	0.49833	T	0.523841	0.83397	D	-0.375631	0.03318	T	-0.461188	0.26469	T	0.503803849220276	0.32768	D	0.791221	0.44648	T	0.21842512	0.44350	0.20720683	0.44970	0.21842512	0.44349	0.20720683	0.44969	-7.571	0.59581	D	.	.	0.203	0.42806	B	.;.	.;.	2.082647	0.26487	17.14	0.99178141127117148	0.54585	0.87028	0.46447	D	AEFDBI	0.529619	0.55066	D	0.268740782375181	0.54572	3.622406	0.192825457827145	0.49452	3.148293	0.999952851907016	0.48110	0.489673	0.17934	0	0.573888	0.26702	0	0.573078	0.19857	0	0.662433	0.64102	0	.	.	5.9	0.767	0.17627	0.210000	0.17249	-0.074000	0.12261	-0.125000	0.13442	0.983000	0.35670	0.867000	0.27550	0.992000	0.67800	0.0:0.4481:0.0:0.5519	10.868	0.46073	871	0.31377	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1110.98	33	chr3	64649715	.	T	G	1110.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.272;DP=803;ExcessHet=0.0000;FS=2.460;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.19;ReadPosRankSum=1.38;SOR=0.483	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1278	20	0	1	0
chr3	64658741	64658741	A	G	exonic	ADAMTS9	.	nonsynonymous SNV	ADAMTS9:NM_001318781:exon4:c.T730C:p.W244R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.001	B	0.169	N	0.844	N	0.11	N	0.3	T	-1.036	T	0.082	T	0.247	-0.137	3.332	-0.391	-0.265	0.047	9.444	0.055	0.0148853496304	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1423412179	1.368e-06	1.368e-06	0	2.75e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	0.18956	T	0.348	0.17696	T	0.0	0.02946	B	0.0	0.01387	B	0.168753	0.17438	N	0.596536	0.943989	0.28595	N	-0.175	0.04276	N	0.3	0.61089	T	-1.33	0.33197	N	0.283	0.32037	-1.0355	0.18700	T	0.082	0.32237	T	10	0.06912777	0.09874	T	0.014885	0.35296	T	0.055	0.15663	0.403	0.43408	0.331619326243	0.32766	0.2480851996275321	0.24722	0.338253355066	0.35799	0.286027848721	0.08346	T	0.044253	0.26758	T	-0.256815	0.13276	T	-0.506044	0.21723	T	0.0304810968003591	0.02064	T	0.341266	0.07400	T	0.06304186	0.13231	0.061800756	0.11993	0.06304186	0.13230	0.061800756	0.11992	-0.323	0.00486	T	.	.	0.147	0.44293	B	.;.;.	.;.;.	0.159286	0.05500	1.965	0.49196751643335379	0.04169	0.25154	0.22613	N	AEFDBI	0.112355	0.22211	N	-1.14790889582476	0.05813	0.2660434	-1.08063686844056	0.08081	0.3958353	0.00267297194446538	0.09624	0.615465	0.37627	0	0.573888	0.26702	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	6.01	-0.391	0.11826	0.243000	0.17880	0.310000	0.17073	-0.534000	0.04951	0.016000	0.19238	0.000000	0.08366	0.025000	0.12405	0.6527:0.0:0.3473:0.0	9.444	0.37852	870	0.31527	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1526.98	35	chr3	64658741	.	A	G	1526.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.219e+00;DP=842;ExcessHet=0.0000;FS=1.398;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=0.435;SOR=0.559	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1334	20	0	1	0
chr3	65356758	65356758	A	C	exonic	MAGI1	.	nonsynonymous SNV	MAGI1:NM_001033057:exon23:c.T4009G:p.L1337V,	.	.	9	1512	1	0	0	1	0.000330579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.996	D	0.986	D	0.000	D	1.000	D	0.975	L	2.66	T	-1.231	T	0.051	T	0.352	0.736	7.906	-1.69	-0.569	0.146	13.404	0.121	0.00969858912569	0.0033	0.000798722	0.0029	0.0006	0.0010	0	0.0035	0.0041	0.0012	0.0018	0.0027619	427	154602	rs140619230	0.0036	0.0036	0.0036	0.0035	0.0042	0.0035	0.0035	0.0041	0.0041	0.0005	0.0015	3.999e-05	2.527e-05	0.0028	0.0002	0.0042	0.0030	0.0013	0.0027	0.0027	0.0029	0.0025	0.0042	0.0024	0.0024	0.0038	0.0037	0.0009	0	0.0030	0	0	0.0016	0	0.0042	0.0033	0.0019	0.0	0.91255	D	0.14	0.33554	T	0.996	0.68779	D	0.986	0.76916	D	0.000006	0.62929	D	0.000000	1	0.81001	D	.	.	.	2.66	0.12575	T	-0.8	0.22078	N	0.294	0.50237	-1.2307	0.00029	T	0.051	0.21689	T	10	0.0046604276	0.00098	T	0.009699	0.25336	T	0.121	0.33580	.	.	0.161926535498	0.15789	0.19538221134334982	0.19455	1.03353059841	0.75497	0.618499517441	0.55517	T	.	.	.	-0.482072	0.00719	T	-0.463597	0.26209	T	0.053450440512346	0.06096	T	.	.	.	.	.	.	.	.	.	.	.	-4.342	0.28761	T	.	.	0.338	0.55788	B	.;.	.;.	1.562949	0.20018	14.55	0.90726042310720245	0.19976	0.21660	0.21480	N	AEFDBHCIJ	0.188915	0.31618	N	-0.559806530667599	0.20176	1.061763	-0.734950420967932	0.16092	0.8496707	0.999995105526919	0.74766	0.651	0.46895	0	0.588015	0.36545	0	0.52208	0.10781	0	0.683762	0.67416	0	.	.	5.31	-1.69	0.07747	0.057000	0.14157	1.161000	0.24553	-0.208000	0.08445	0.054000	0.21560	0.159000	0.23246	0.934000	0.47231	0.4272:0.0:0.5728:0.0	13.404	0.60347	795	0.45444	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2560.98	33	chr3	65356758	.	A	C	2560.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.875;DP=903;ExcessHet=0.0000;FS=3.981;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=-3.775e+00;SOR=0.477	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1316	20	0	1	0
chr3	65391268	65391268	T	G	exonic	MAGI1	.	nonsynonymous SNV	MAGI1:NM_001033057:exon14:c.A2290C:p.T764P	.	.	8	1462	50	2	0	54	0.018133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.973	D	0.735	P	0.005	N	0.960	D	0.09	N	2.72	T	-1.033	T	0.034	T	0.344	1.551	11.14	0.817	-0.068	-0.215	5.872	0.032	0.00554250367539	0.0019	0.00179712	0.0025	0.0004	0.0011	0	0	0.0033	0.0022	0.0038	0.0022962	355	154602	rs61740330	0.0017	0.0017	0.0015	0.0019	0.0234	0.0017	0.0017	0.0202	0.0190	0.0004	0.0014	0.0105	2.519e-05	3.744e-05	0.0234	0.0014	0.0032	0.0038	0.0016	0.0016	0.0015	0.0017	0.0031	0.0014	0.0014	0.0019	0.0016	0.0004	0	0.0019	0.0115	0	9.413e-05	0.0102	0.0019	0.0047	0.0031	0.086	0.36709	T	0.299	0.22291	T	0.0	0.57599	B	0.001	0.55480	B	0.004631	0.33547	N	0.375437	0.959861	0.38149	D	-0.135	0.04517	N	2.25	0.18875	T	0.47	0.03090	N	0.105	0.13769	-1.0333	0.19395	T	0.034	0.14726	T	10	0.0046277046	0.00096	T	0.005543	0.14288	T	0.032	0.07718	.	.	0.23798241625	0.23396	0.13796831742168336	0.13720	0.725152338694	0.62432	0.317334890366	0.13017	T	0.041969	0.26030	T	-0.525761	0.00407	T	-0.530101	0.19277	T	0.00590482259284364	0.00065	T	.	.	.	.	.	.	.	.	.	.	.	-12.517	0.87278	D	.	.	0.065	0.02399	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.980096	0.25155	16.66	0.96601938851103708	0.30409	0.52638	0.29179	D	AEFDBI	0.231897	0.35505	N	-0.698435024602363	0.16065	0.8152945	-0.620132010009374	0.18976	1.016116	0.998471281238113	0.37033	0.562547	0.31514	0	0.573888	0.26702	0	0.26897	0.05253	2	0.635551	0.53088	0	.	.	5.98	0.817	0.17914	-0.035000	0.12156	-0.272000	0.10340	0.665000	0.62972	0.814000	0.29906	0.430000	0.24851	0.993000	0.69303	0.0:0.2598:0.1263:0.614	5.872	0.18059	839	0.37672	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1098.98	34	chr3	65391268	.	T	G	1098.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.051e+00;DP=768;ExcessHet=0.0000;FS=2.855;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=1.19;SOR=0.435	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1109	20	0	1	0
chr3	66262059	66262059	C	-	exonic	SLC25A26	.	stopgain	SLC25A26:NM_001164796:exon3:c.45delC:p.L16*	Combined oxidative phosphorylation deficiency 28, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.115e-06	2.052e-06	2.794e-06	1.423e-06	9.188e-07	5.6e-07	1.6e-07	.	.	0	0	0	0	0	0	9.188e-07	3.391e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	924.94	49	chr3	66262058	.	GC	G	924.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.151;DP=728;ExcessHet=0.0000;FS=4.041;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.88;ReadPosRankSum=-1.050e-01;SOR=0.960	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1054	20	0	1	0
chr3	66380694	66380694	A	G	exonic	LRIG1	.	nonsynonymous SNV	LRIG1:NM_001377347:exon11:c.T1936C:p.C646R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.073	B	0.076	B	0.792	N	1.000	N	0.345	N	-0.05	T	-1.022	T	0.101	T	0.204	1.454	10.80	-0.805	-0.411	0.272	0.993	0.052	0.0283514715061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.19782	T	0.38	0.16766	T	0.042	0.23930	B	0.021	0.28435	B	0.791804	0.09391	N	0.910041	0.999998	0.08975	N	0.55	0.14455	N	-0.05	0.63568	T	-1.45	0.35597	N	0.177	0.19055	-1.0225	0.22899	T	0.101	0.37366	T	10	0.053418428	0.05529	T	0.028351	0.51038	D	0.052	0.14661	0.352	0.35084	0.0934897674506	0.08844	0.10939551410755723	0.10868	0.176924702148	0.19905	0.285977184772	0.08340	T	0.129545	0.45789	T	-0.178272	0.23992	T	-0.493852	0.22988	T	0.059298362582922	0.07058	T	.	.	.	0.068434946	0.14907	0.11672285	0.28178	0.068434946	0.14907	0.11672285	0.28177	-2.317	0.04650	T	.	.	0.384	0.58674	A	.;.	.;.	0.825025	0.11966	8.523	0.55501278704533819	0.05355	0.10588	0.16052	N	AEFDBHCI	0.085658	0.17366	N	-1.24387405285415	0.04380	0.1975921	-1.24339224503414	0.05230	0.2486767	0.999966038926282	0.48965	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.76	-0.805	0.10330	0.095000	0.14966	-0.017000	0.12978	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.458:0.1205:0.1696:0.2518	0.993	0.01369	804	0.43891	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2415.98	35	chr3	66380694	.	A	G	2415.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=944;ExcessHet=0.0000;FS=2.554;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=-8.670e-01;SOR=0.925	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr3	67375808	67375808	A	G	exonic	SUCLG2	.	nonsynonymous SNV	SUCLG2:NM_003848:exon11:c.T1235C:p.I412T,	.	.	0	224	2	0	0	2	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.983	D	0.969	D	0.000	D	1.000	D	1.95	M	-0.99	T	0.096	D	0.523	D	0.918	2.723	15.06	5.38	2.161	8.039	13.200	0.794	0.0554254056359	.	.	8.458e-06	0	0	0	0	0	0	6.423e-05	6.5e-06	1	154602	rs774922481	6.842e-06	6.84e-06	4.084e-06	9.627e-06	0.0007	3.46e-06	2.52e-06	0.0002	0.0001	0	0	0	0	0	0.0007	1.799e-06	1.656e-05	3.479e-05	1.969e-05	1.968e-05	0	4.027e-05	0.0004	5.24e-06	2.45e-06	7.287e-05	3.028e-05	0	0	0	0	0	0	0.0034	0	0	0.0004	0.0	0.91255	D	0.001	0.83351	D	0.956	0.54666	P	0.939	0.67449	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.165	0.88605	M	-0.99	0.75911	T	-4.43	0.77554	D	0.924	0.92784	0.096	0.84092	D	0.523	0.82230	D	10	0.9850817	0.98740	D	0.055425	0.66229	D	0.794	0.93227	0.869	0.96265	0.932158950654	0.93146	.	.	.	.	0.555961787701	0.46698	T	0.226717	0.59181	T	0.335891	0.85558	D	0.345337	0.90131	D	0.939390420913696	0.61080	D	0.988601	0.96130	D	0.8255574	0.85597	0.77514625	0.86733	0.8255574	0.85598	0.77514625	0.86733	-9.605	0.71510	D	.	.	0.934	0.85387	P	.	.	3.545455	0.49816	22.8	0.99499792261667919	0.67973	0.97451	0.74834	D	AEFI	0.919733	0.89067	D	0.587535179252154	0.72397	5.799134	0.526769617686454	0.69796	5.411948	0.988610370424397	0.31573	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.38	5.38	0.77279	8.369000	0.90016	9.390000	0.80573	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	1.0:0.0:0.0:0.0	13.200	0.59185	911	0.21964	ATP-citrate lyase/succinyl-CoA ligase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	897.98	38	chr3	67375808	.	A	G	897.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.806;DP=843;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.85;MQRankSum=0.888;QD=9.87;ReadPosRankSum=-9.830e-01;SOR=0.743	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr3	69024072	69024072	G	A	exonic	TMF1	.	nonsynonymous SNV	TMF1:NM_001363879:exon16:c.C3130T:p.L1044F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	2.96	M	-1.74	D	0.613	D	0.740	D	0.753	3.621	18.43	5.59	2.620	3.905	12.479	0.643	0.100922410156	0.0012	0.000798722	0.0009	0.0003	0.0006	0	0	0.0014	0.0011	0	0.0009444	146	154602	rs185749329	0.0015	0.0015	0.0016	0.0015	0.0019	0.0015	0.0015	0.0018	0.0018	0.0002	0.0008	0	0	0.0001	0.0009	0.0019	0.0014	0.0002	0.0009	0.0009	0.0010	0.0009	0.0016	0.0008	0.0008	0.0013	0.0012	0.0003	0	0.0012	0	0	0	0	0.0016	0.0019	0	0.004	0.65419	D	0.042	0.50226	D	0.981	0.90584	D	0.91	0.92359	D	0.000001	0.62929	D	0.000000	0.999993	0.58761	D	3.295	0.90403	M	-1.74	0.83413	D	-2.69	0.57435	D	0.772	0.76946	0.613	0.92067	D	0.740	0.91109	D	10	0.02845183	0.00977	T	0.100922	0.77349	D	0.643	0.86435	.	.	0.801806981277	0.79995	0.5967546271295493	0.59606	0.526887597323	0.50308	0.747219204903	0.74037	T	0.618	0.87977	D	-0.0453196	0.45156	T	0.132046	0.79025	D	0.137239343210396	0.16035	T	0.908009	0.70480	D	0.43966225	0.63380	0.42288822	0.66176	0.43966225	0.63381	0.42288822	0.66176	-9.034	0.67935	D	.	.	0.277	0.51014	B	.;.;.	.;.;.	4.575919	0.72242	25.8	0.99883561677599675	0.95892	0.89045	0.49280	D	AEFBI	0.231576	0.35478	N	0.801844660377273	0.86222	8.816389	0.757103487779776	0.86685	8.96968	0.999944269161673	0.47345	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.59	5.59	0.84677	3.968000	0.56516	9.900000	0.82342	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1197:0.0:0.8803:0.0	12.479	0.55171	650	0.62973	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1760.08	33	chr3	69024072	.	G	A	1760.08	.	AC=2;AF=0.048;AN=42;DP=741;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.33;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1019	20	1	0	0
chr3	69038653	69038653	G	A	exonic	TMF1	.	nonsynonymous SNV	TMF1:NM_001363879:exon8:c.C2071T:p.R691C	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.099	B	0.014	B	0.000	D	1.000	D	1.3	L	2.11	T	-1.133	T	0.032	T	0.293	2.436	14.10	5.72	2.698	2.563	13.124	0.033	0.0068481943087	0.0050	0.00279553	0.0044	0.0007	0.0007	0	0.0032	0.0062	0.0011	0.0047	0.0044889	694	154602	rs34917634	0.0054	0.0054	0.0055	0.0054	0.0063	0.0053	0.0053	0.0062	0.0061	0.0007	0.0009	0.0006	5.039e-05	0.0039	0.0005	0.0063	0.0045	0.0047	0.0036	0.0036	0.0036	0.0035	0.0064	0.0033	0.0032	0.0059	0.0057	0.0008	0.0011	0.0024	0.0009	0	0.0016	0	0.0064	0.0005	0.0035	0.087	0.32453	T	0.148	0.32675	T	0.06	0.25639	B	0.006	0.16862	B	0.000022	0.55875	D	0.148717	0.999994	0.58761	D	1.15	0.29295	L	2.11	0.19860	T	-1.6	0.38540	N	0.226	0.25377	-1.1326	0.01662	T	0.032	0.13942	T	10	0.0043610334	0.00089	T	0.006848	0.18121	T	0.033	0.08068	.	.	0.319402600006	0.31557	0.19279652059941568	0.19197	0.137519854837	0.15505	0.285906165838	0.08330	T	0.124913	0.45026	T	-0.494125	0.00617	T	-0.471521	0.25353	T	0.0098914620896819	0.00131	T	0.938506	0.78031	D	0.13417888	0.31184	0.08848774	0.20635	0.13417888	0.31184	0.08848774	0.20635	-7.66	0.58729	D	.	.	0.078	0.06990	B	.;.	.;.	3.534594	0.49613	22.8	0.99418289423085349	0.63645	0.94297	0.60718	D	AEFBI	0.601288	0.59359	D	0.0377205204651754	0.43580	2.648031	0.222291950279276	0.51087	3.29427	0.97258571776967	0.29383	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.72	5.72	0.89380	2.631000	0.46169	5.186000	0.47881	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0732:0.0:0.9268:0.0	13.124	0.58759	503	0.75780	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1983.98	33	chr3	69038653	.	G	A	1983.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=-8.880e-01;SOR=0.730	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1175	20	0	1	0
chr3	69071536	69071536	T	C	exonic	UBA3	.	nonsynonymous SNV	UBA3:NM_001363861:exon3:c.A223G:p.R75G	.	.	.	.	.	.	.	.	.	0.9949	0.922	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.991	D	0.000	D	1.000	D	2.41	M	1.43	T	-0.738	T	0.189	T	0.947	4.038	20.7	5.57	2.248	4.257	11.550	0.505	0.0540592811444	.	.	2.837e-05	0	0.0002	0	0	1.745e-05	0	0	1.94e-05	3	154602	rs748533431	3.017e-05	3.08e-05	2.795e-05	3.238e-05	0.0016	2.244e-05	2.02e-05	0.0009	0.0006	0	0.0002	0	0	0	0.0016	2.001e-05	5.311e-05	2.645e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.13	0.59329	M	1.43	0.32958	T	-6.7	0.92476	D	0.751	0.77413	-0.7377	0.58570	T	0.189	0.54079	T	10	0.8504158	0.84217	D	0.054059	0.65709	D	0.505	0.78662	0.723	0.85761	0.796804699127	0.79491	0.8719637933063573	0.87162	0.914013942472	0.71174	0.660774946213	0.61520	T	0.194631	0.79470	T	0.0527794	0.58699	T	0.122751	0.78416	D	0.726139485836029	0.42011	D	0.982002	0.93887	D	0.90901446	0.92203	0.8033425	0.88480	0.90901446	0.92204	0.8033425	0.88481	-14.539	0.94676	D	.	.	0.872	0.80970	P	.;.;.;.	.;.;.;.	5.612395	0.92540	32	0.99905393094791828	0.97651	0.95570	0.65249	D	AEFBI	0.699871	0.65708	D	0.733308278577037	0.81815	7.611597	0.702650016789424	0.82578	7.802312	0.999999453104367	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.57	5.57	0.84021	4.265000	0.58663	6.199000	0.54868	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.266:0.734	11.550	0.49966	357	0.85079	THIF-type NAD/FAD binding fold;THIF-type NAD/FAD binding fold;.;THIF-type NAD/FAD binding fold	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	715.98	33	chr3	69071536	.	T	C	715.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.030e+00;DP=799;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.42;ReadPosRankSum=-4.000e-01;SOR=0.656	GT:AD:DP:GQ:PL	0/1:49,36:85:99:730,0,1175	20	0	1	0
chr3	69109111	69109111	G	T	exonic	LMOD3	.	nonsynonymous SNV	LMOD3:NM_198271:exon3:c.C1667A:p.P556Q	Nemaline myopathy 10, Autosomal recessive	.	435	1071	16	0	0	16	0.00741427	.	.	215293	not_specified|Nemaline_myopathy_10|not_provided	MedGen:CN169374|MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.622	P	0.11	B	.	.	1.000	D	1.935	M	2.6	T	-1.128	T	0.039	T	0.794	2.401	13.99	5.53	2.614	5.914	16.2	0.234	.	0.0003	0.00299521	0.0020	0.0002	0.0003	0	0	0.0007	0	0.0089	0.0010349	160	154602	rs201205115	0.0007	0.0007	0.0005	0.0009	0.0073	0.0007	0.0007	0.0068	0.0067	0	0.0002	0	0	1.904e-05	0.0038	0.0003	0.0010	0.0073	0.0005	0.0005	0.0004	0.0006	0.0071	0.0004	0.0004	0.0052	0.0045	4.821e-05	0	0.0001	0	0	0	0	0.0005	0.0009	0.0071	0.001	0.78490	D	0.045	0.49390	D	0.622	0.39964	P	0.11	0.31460	B	.	.	.	.	0.999999	0.58761	D	1.7	0.43825	L	2.6	0.13204	T	-5.59	0.86527	D	0.753	0.76203	-1.1277	0.01896	T	0.039	0.16849	T	9	0.009101003	0.00206	T	.	.	.	0.234	0.53644	.	.	0.441221003447	0.43743	0.4030161126887055	0.40217	0.0810768927185	0.09121	0.657460093498	0.61046	T	0.054363	0.29704	T	-0.241252	0.15189	T	-0.115872	0.62140	T	0.115575303002286	0.13992	T	0.625137	0.24143	T	0.59228265	0.72275	0.81371063	0.89136	0.59228265	0.72276	0.81371063	0.89137	-9.812	0.72778	D	.	.	0.657	0.71193	P	.;.;.	.;.;.	3.986647	0.58650	24.0	0.96878609923570203	0.31450	0.95287	0.64137	D	AEFDBHCI	0.801815	0.72742	D	0.30940619591794	0.56629	3.828033	0.390226168124508	0.60962	4.289849	0.99999999999988	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.662026	0.63922	0	.	.	5.53	5.53	0.82530	6.791000	0.74907	11.825000	0.97352	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.894000	0.43146	0.0:0.0:1.0:0.0	16.2	0.81882	349	0.85513	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	602.98	33	chr3	69109111	.	G	T	602.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.837;DP=760;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.88;ReadPosRankSum=0.751;SOR=0.747	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1151	20	0	1	0
chr3	69181256	69181256	G	C	exonic	FRMD4B	.	nonsynonymous SNV	FRMD4B:NM_015123:exon21:c.C2494G:p.Q832E,	.	.	429	1082	11	0	0	11	0.00505747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.737	P	0.237	B	0.000	D	0.999	D	1.61	L	-1.71	D	-0.019	T	0.475	T	0.321	4.024	20.6	5.83	2.757	9.476	20.114	0.434	0.0529136556972	0.0023	0.000998403	0.0025	0.0010	0.0023	0	0.0005	0.0036	0.0022	0.0010	0.0023997	371	154602	rs199706552	0.0028	0.0028	0.0028	0.0028	0.0160	0.0027	0.0027	0.0133	0.0123	0.0010	0.0027	0.0156	0	0.0004	0.0160	0.0028	0.0034	0.0011	0.0022	0.0022	0.0023	0.0020	0.0033	0.0020	0.0019	0.0026	0.0023	0.0006	0	0.0033	0.0184	0	0.0006	0.0068	0.0025	0.0057	0.0010	0.01	0.56456	D	0.186	0.37872	T	0.737	0.42882	P	0.237	0.38508	B	0.000006	0.62929	D	0.109676	0.999491	0.47278	D	2.14	0.59869	M	-1.72	0.83241	D	-0.34	0.12661	N	0.524	0.55366	-0.0192	0.81855	T	0.475	0.79847	T	10	0.009417921	0.00213	T	0.052914	0.65261	D	0.434	0.73951	.	.	0.56437525427	0.56100	0.7345578573900866	0.73400	0.0547097148445	0.06054	0.462807297707	0.33696	T	0.007676	0.16191	T	-0.239893	0.15363	T	-0.117374	0.62017	T	0.0406746991656434	0.03812	T	0.959004	0.92475	D	0.12357676	0.29014	0.239332	0.49278	0.12357676	0.29014	0.239332	0.49277	-2.821	0.08378	T	.	.	0.209	0.43585	B	.;.	.;.	3.343665	0.46082	22.2	0.99272507748993633	0.57593	0.97791	0.77159	D	AEFGBCI	0.919008	0.88890	D	0.487089455058406	0.66336	4.936884	0.614264542042888	0.75976	6.406598	1.0	0.98316	0.730579	0.87903	0	0.546412	0.12157	0	0.658983	0.55881	0	0.648885	0.59868	0	.	.	5.83	5.83	0.93059	9.602000	0.97623	9.945000	0.82685	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	20.114	0.97919	547	0.72440	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1915.98	60	chr3	69181256	.	G	C	1915.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.462;DP=1602;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.01;ReadPosRankSum=2.59;SOR=0.668	GT:AD:DP:GQ:PL	0/0:76,0:76:99:0,120,1800	20	0	1	0
chr3	69216325	69216325	G	C	exonic	FRMD4B	.	nonsynonymous SNV	FRMD4B:NM_015123:exon11:c.C814G:p.L272V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.999	D	0.994	D	0.000	D	1.000	D	1.59	L	-3.0	D	0.524	D	0.713	D	0.603	4.122	21.3	5.44	2.546	7.127	18.039	0.743	.	0.0039	0.00439297	0.0025	0.0224	0.0007	0	0	0	0	0.0001	0.0010284	159	154602	rs146672127	0.0005	0.0005	0.0005	0.0004	0.0179	0.0004	0.0004	0.0167	0.0162	0.0179	0.0005	0	0	0	0	2.773e-06	0.0009	2.455e-05	0.0050	0.0050	0.0054	0.0047	0.0177	0.0047	0.0046	0.0166	0.0162	0.0177	0	0.0013	0	0	0	0	4.413e-05	0.0028	0	0.055	0.38407	T	0.0	0.92824	D	0.972	0.57405	D	0.946	0.68276	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.49	0.37298	L	-3.0	0.92158	D	-1.98	0.49846	N	0.861	0.85766	0.524	0.90883	D	0.713	0.90159	D	10	0.012909919	0.00276	T	.	.	.	0.743	0.91112	.	.	0.839248863978	0.83771	0.5091908434849498	0.50841	0.335228643753	0.35531	0.633434653282	0.57632	T	0.353528	0.72081	T	-0.141925	0.29583	T	0.0369833	0.72731	D	0.0208648163053774	0.00787	T	0.985201	0.94902	D	0.36877158	0.58494	0.31114182	0.57122	0.36877158	0.58494	0.31114182	0.57121	-10.21	0.75159	D	.	.	0.532	0.66003	A	.;.	.;.	5.232401	0.87830	29.4	0.99808399335234654	0.89264	0.97743	0.76812	D	AEFBI	0.848464	0.76529	D	0.731054339870126	0.81668	7.576509	0.738120285851666	0.85266	8.52986	0.999999999999028	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.653264	0.51672	0	0.735409	0.98432	0	.	.	5.44	5.44	0.79348	9.343000	0.96451	11.726000	0.94905	0.606000	0.46413	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.039	0.89238	560	0.71333	FERM, C-terminal PH-like domain|FERM domain|FERM, C-terminal PH-like domain;FERM domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1410.98	50	chr3	69216325	.	G	C	1410.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.831e+00;DP=1124;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=1.20;SOR=0.734	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	20	0	1	0
chr3	70972152	70972152	T	C	exonic	FOXP1	.	nonsynonymous SNV	FOXP1:NM_001244810:exon18:c.A1559G:p.H520R,	Mental retardation with language impairment and with or without autistic features, Autosomal dominant	.	0	1518	4	0	0	4	0.00131579	.	.	363694	not_provided|FOXP1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0091853	0.0018	0	0.0167	0.0354	0	0.0015	0.0152	0.0003	0.0008215	127	154602	rs76145927	0.0023	0.0022	0.0024	0.0023	0.0561	0.0023	0.0022	0.0540	0.0532	0.0004	0.0098	0.0017	0.0561	0.0120	0.0009	0.0002	0.0033	0.0004	0.0035	0.0035	0.0027	0.0043	0.0398	0.0032	0.0032	0.0354	0.0336	0.0006	0	0.0056	0.0009	0.0398	0.0162	0	0.0005	0.0033	0.0004	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.954	0.96302	.	.	.	.	.	.	.	0.009577841	0.00216	T	.	.	.	.	.	.	.	0.805881646239	0.80406	0.9195165937247104	0.91927	.	.	.	.	.	.	.	.	0.110814	0.65437	D	0.448089	0.93529	D	.	.	.	0.964304	0.86758	D	.	.	.	.	.	.	.	.	-9.855	0.73039	D	.	.	0.999	0.98631	P	.;.	.;.	2.099985	0.26722	17.22	0.96490831351314887	0.30005	0.98453	0.82934	D	AEFBI	0.876408	0.80040	D	.	.	.	.	.	.	0.999999999998693	0.74766	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	7.756000	0.84058	3.551000	0.39048	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.576	0.84532	665	0.61472	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	815.98	34	chr3	70972152	.	T	C	815.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.637e+00;DP=775;ExcessHet=0.0000;FS=2.053;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.36;ReadPosRankSum=2.11;SOR=0.456	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1430	20	0	1	0
chr3	73062271	73062271	G	A	exonic	EBLN2	.	nonsynonymous SNV	EBLN2:NM_018029:exon1:c.G190A:p.A64T,	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.046	B	0.004	B	.	.	1.000	N	0	N	.	.	-1.027	T	0.039	T	0.114	-0.077	3.622	0.225	0.300	0.364	.	0.007	0.00175309157425	8.1e-05	.	8.058e-05	0.0001	0.0001	0	0	9.005e-05	0	7.287e-05	6.47e-05	10	154602	rs376896494	5.027e-05	4.994e-05	4.384e-05	5.677e-05	0.0005	4.086e-05	3.758e-05	0.0001	7.591e-05	6.099e-05	7.259e-05	0	0	0	0.0005	4.687e-05	8.337e-05	9.485e-05	3.945e-05	3.941e-05	3.856e-05	4.037e-05	7.244e-05	1.716e-05	1.13e-05	1.921e-05	1.032e-05	7.244e-05	0	0	0	0	0	0	4.41e-05	0	0	0.267	0.16198	T	0.314	0.19480	T	0.046	0.21875	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	-0.24	0.10833	N	0.078	0.05287	-1.0270	0.21429	T	0.039	0.16720	T	7	0.041474223	0.02807	T	0.001753	0.02960	T	0.007	0.00512	.	.	0.0806252709748	0.07271	0.010099566507114544	0.00971	0.0157190196081	0.01500	0.360490292311	0.19457	T	0.002194	0.01594	T	-0.419732	0.01717	T	-0.625357	0.10769	T	0.0103880054834482	0.00143	T	0.29867	0.05569	T	0.09149671	0.21441	0.11802871	0.28492	0.09149671	0.21441	0.11802871	0.28491	-3.763	0.20253	T	.	.	0.093	0.14062	B	.	.	0.309527	0.06847	3.376	0.5676577373514472	0.05623	0.02284	0.06582	N	AEFDBHCI	0.023972	0.01412	N	-1.22196556187569	0.04682	0.2118573	-1.31359150866858	0.04253	0.2002442	0.963295414006762	0.28681	0.562547	0.31514	0	0.653731	0.59785	0	0.486962	0.07600	0	0.635551	0.53088	0	.	.	0.225	0.225	0.14598	0.365000	0.20076	-0.096000	0.11999	0.373000	0.20310	0.006000	0.17386	0.002000	0.18203	0.004000	0.06068	.	.	.	843	0.36859	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1525.98	115	chr3	73062271	.	G	A	1525.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.79;DP=2217;ExcessHet=0.0000;FS=4.776;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=-1.367e+00;SOR=0.350	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1413	20	0	1	0
chr3	75730451	75730451	T	G	exonic	ZNF717	.	stoploss	ZNF717:NM_001324027:exon7:c.A2396C:p.X799S,	.	.	432	314	768	8	0	784	0.555241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs75952318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	49921.47	133	chr3	75730451	.	T	G	49921.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.927e+00;DP=2763;ExcessHet=51.1880;FS=6.167;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=54.60;MQRankSum=-6.357e+00;QD=18.50;ReadPosRankSum=1.68;SOR=0.393	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,47:125:99:0|1:75730450_C_T:1637,0,3103:75730450	0	0	20	1
chr3	75730602	75730602	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001324027:exon7:c.G2245A:p.E749K,	.	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1333683426	0	1.272e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0100	0.0004	0.0006	0.0044	0.0004	0.0004	0.0029	0.0024	0.0007	0	0.0004	0.0003	0.0010	0.0005	0	0.0002	0.0005	0.0044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	39.15	87	chr3	75730602	.	C	T	39.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.910e-01;DP=1634;ExcessHet=0.0000;FS=2.860;InbreedingCoeff=-0.0278;MLEAC=1;MLEAF=0.024;MQ=54.51;MQRankSum=-5.280e+00;QD=0.39;ReadPosRankSum=-1.818e+00;SOR=1.347	GT:AD:DP:GQ:PL	0/0:87,0:87:99:0,120,1800	20	0	1	0
chr3	75730611	75730611	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001324027:exon7:c.C2236A:p.L746I,	.	.	434	899	189	0	0	189	0.0951183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0330413	860	26028	rs73841587	5.455e-06	4.771e-06	3.964e-06	6.718e-06	9.364e-05	1.45e-06	4e-07	2.481e-05	1.287e-05	0	0	0	9.364e-05	0	0	0	0	0	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.418e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1725.72	84	chr3	75730611	.	G	T	1725.72	.	AC=10;AF=0.250;AN=40;BaseQRankSum=0.901;DP=1563;ExcessHet=6.1002;FS=32.590;InbreedingCoeff=-0.3415;MLEAC=10;MLEAF=0.250;MQ=56.09;MQRankSum=-5.845e+00;QD=2.20;ReadPosRankSum=-2.408e+00;SOR=8.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,7:88:50:0|1:75730591_G_A:50,0,3380:75730591	10	0	10	1
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*	.	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	13057.87	155	chr3	75736884	.	G	GA	13057.87	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.070e-01;DP=3250;ExcessHet=25.1139;FS=1.336;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=56.86;MQRankSum=-7.182e+00;QD=4.87;ReadPosRankSum=0.148;SOR=0.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:107,0:107:99:.:.:0,120,1800	4	0	17	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F	.	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.024	B	0.002	B	.	.	1.000	N	0	N	3.37	T	-0.932	T	0.010	T	0.477	1.695	11.63	-0.734	-0.244	-0.140	5.509	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	30918.43	158	chr3	75736891	.	G	A	30918.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.300e-01;DP=3330;ExcessHet=43.6797;FS=1.234;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=57.04;MQRankSum=-9.187e+00;QD=9.77;ReadPosRankSum=0.205;SOR=0.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:106,6:112:66:.:.:0,66,3372	1	0	20	0
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D	.	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.111	B	0.006	B	.	.	1.000	N	0	N	3.39	T	-0.948	T	0.010	T	0.567	0.479	6.601	-0.249	-0.078	-0.941	3.115	0.103	0.00110452594305	.	.	.	.	.	.	.	.	.	.	0.071231	1854	26028	rs111230396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-1.02	0.26843	N	0.085	0.06190	-0.9483	0.41263	T	0.010	0.03627	T	9	0.058318764	0.06838	T	0.001105	0.01312	T	0.103	0.29403	.	.	0.0138822411134	0.00435	0.0015786287646668746	0.00145	.	.	0.445909142494	0.31386	T	.	.	.	-0.17615	0.24310	T	-0.490804	0.23306	T	0.0638085464059829	0.07754	T	0.121888	0.00944	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23500	B	.	.	0.610910	0.09792	6.559	0.89825184067637265	0.19134	0.00196	0.01131	N	AEFDBCI	0.022523	0.01136	N	-1.22540343885655	0.04634	0.2095599	-1.32633955667091	0.04093	0.1923357	0.999959091878699	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	0.741	-0.249	0.12368	1.331000	0.33398	.	.	0.482000	0.22156	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.6566:0.0:0.3434	3.115	0.05989	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28820.74	164	chr3	75736920	.	C	A	28820.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.130e-01;DP=3467;ExcessHet=54.0936;FS=2.025;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.55;MQRankSum=-8.791e+00;QD=8.35;ReadPosRankSum=0.030;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,10:138:35:0|1:75736920_C_A:35,0,5324:75736920	0	0	21	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I	.	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.219	B	0.007	B	.	.	1.000	N	0	N	3.47	T	-0.947	T	0.008	T	0.512	0.877	8.556	0.364	0.148	-0.065	3.729	0.112	0.00121036639884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74593105	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0008	8.267e-05	0	8.274e-05	0	0.0026	8.845e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	0	0	0.0001	0	0.0006	0.38	0.11191	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.32	0.06214	T	0.07	0.06138	N	0.026	0.00527	-0.9474	0.41414	T	0.008	0.02926	T	9	0.09491852	0.16914	T	0.00121	0.01583	T	0.112	0.31546	.	.	0.0138822411134	0.00435	7.206520044993825E-4	0.00066	.	.	0.389449685812	0.23592	T	.	.	.	-0.217344	0.18358	T	-0.549976	0.17329	T	0.104380803558879	0.12832	T	0.0709929	0.00518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.653467	0.10217	6.957	0.91771767316116259	0.21074	0.00105	0.00673	N	AEFDBCI	0.020476	0.00813	N	-1.22446334774296	0.04648	0.2101895	-1.31163951798627	0.04279	0.2014874	0.999941810098761	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.29	0.364	0.15359	-0.265000	0.08671	.	.	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7401:0.0:0.2599	3.729	0.08012	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28464.74	166	chr3	75736928	.	C	T	28464.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.43;DP=3516;ExcessHet=54.0936;FS=0.608;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.92;MQRankSum=-9.076e+00;QD=8.18;ReadPosRankSum=-5.000e-02;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,13:144:99:0|1:75736920_C_A:152,0,5462:75736920	0	0	21	0
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R	.	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.02	B	0.004	B	.	.	1.000	N	0	N	5.46	T	-0.923	T	0.002	T	0.494	-0.366	2.277	-0.78	-0.138	-1.375	1.651	0.100	0.000733824032747	.	.	.	.	.	.	.	.	.	.	0.0486399	1266	26028	rs75085872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.06935	T	0.328	0.18675	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-0.86	0.23372	N	0.037	0.01135	-0.9235	0.45070	T	0.002	0.00526	T	9	0.048223555	0.04243	T	7.34E-4	0.00491	T	0.100	0.28662	.	.	0.0138822411134	0.00435	5.567766943860148E-4	0.00051	.	.	0.401793837547	0.25319	T	.	.	.	-0.241342	0.15177	T	-0.584447	0.14150	T	0.043195366142589	0.04273	T	0.0990901	0.00735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.45665	B	.	.	0.535899	0.09045	5.828	0.71875029535553825	0.09778	0.00552	0.02527	N	AEFDBHCI	0.039909	0.05861	N	-1.49109708187503	0.01912	0.08392857	-1.53516138275096	0.02080	0.09511815	0.999952974710247	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.0	0.00061	3	0.264475	0.05362	3	.	.	1.92	-0.78	0.10416	-4.136000	0.00326	.	.	-1.203000	0.01359	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2929:0.1901:0.0:0.5171	1.651	0.02605	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	17679.81	152	chr3	75736981	.	T	C	17679.81	.	AC=17;AF=0.500;AN=34;BaseQRankSum=-2.640e-01;DP=3565;ExcessHet=25.1139;FS=0.572;InbreedingCoeff=-0.8248;MLEAC=19;MLEAF=0.559;MQ=52.43;MQRankSum=-7.792e+00;QD=6.08;ReadPosRankSum=-1.711e+00;SOR=0.773	GT:AD:DP:GQ:PL	0/1:133,22:155:99:176,0,4037	0	0	17	4
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K	.	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.049	B	0.048	B	.	.	1.000	N	-0.705	N	2.16	T	-0.957	T	0.015	T	0.509	0.585	7.159	-0.008	0.009	-2.650	2.041	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	25498.56	170	chr3	75737012	.	C	T	25498.56	.	AC=19;AF=0.475;AN=40;BaseQRankSum=-8.280e-01;DP=3725;ExcessHet=36.0830;FS=0.550;InbreedingCoeff=-0.8529;MLEAC=19;MLEAF=0.475;MQ=53.26;MQRankSum=-5.813e+00;QD=7.76;ReadPosRankSum=-2.080e-01;SOR=0.798	GT:AD:DP:GQ:PL	0/1:114,39:153:99:735,0,3557	1	0	19	1
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P	.	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.178	B	0.056	B	.	.	1.000	N	2.8	M	3.15	T	-1.043	T	0.033	T	0.597	1.732	11.75	1.59	1.020	-3.336	7.316	0.160	0.000628152010991	.	.	.	.	.	.	.	.	.	.	0.0548256	1427	26028	rs77715040	8.282e-06	8.895e-06	4.114e-06	1.25e-05	1.183e-05	4.42e-06	3.49e-06	5.34e-06	3.9e-06	0	0	0	0	0	0	9.948e-06	0	1.183e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	-3.1	0.63554	D	0.116	0.10483	-1.0427	0.16503	T	0.033	0.14029	T	9	0.09637886	0.17284	T	6.28E-4	0.00319	T	0.160	0.41473	.	.	0.0138822411134	0.00435	0.009052444588593512	0.00868	.	.	0.566062688828	0.48122	T	.	.	.	-0.167764	0.25573	T	-0.478758	0.24578	T	0.297621607780457	0.24905	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.66781	A	.	.	2.370076	0.30412	18.43	0.98191942080542327	0.39045	0.00784	0.03216	N	AEFDBHCI	0.085768	0.17389	N	-0.771083796564405	0.14068	0.6978022	-0.955324100233036	0.10800	0.5462925	0.999957637849619	0.48110	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	-2.936000	0.00751	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	33734.43	171	chr3	75737060	.	A	G	33734.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.003e+00;DP=4296;ExcessHet=43.6797;FS=0.535;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=53.79;MQRankSum=-5.923e+00;QD=8.57;ReadPosRankSum=1.41;SOR=0.754	GT:AD:DP:GQ:PL	0/1:129,65:194:99:1174,0,4182	1	0	20	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y	.	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	.	.	1.000	N	3.55	H	-1.94	D	-0.050	T	0.770	D	0.423	2.226	13.40	0.518	0.202	3.803	5.69	0.402	0.00342039862449	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs139633377	6.975e-07	1.369e-06	1.383e-06	0	9.107e-07	0	0	.	.	0	0	0	0	0	0	9.107e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.94	0.84919	D	-7.52	0.95102	D	0.208	0.23125	-0.0500	0.81206	T	0.770	0.92171	D	9	0.30394778	0.47923	T	0.00342	0.07694	T	0.402	0.71558	.	.	0.578941962908	0.57563	0.02342305612139971	0.02294	.	.	0.721298933029	0.70236	T	.	.	.	0.128852	0.67249	D	-0.0526902	0.66838	D	0.914417432390081	0.57105	D	0.80432	0.45191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.82003	P	.	.	2.732693	0.35776	19.99	0.91222742361264963	0.20479	0.19094	0.20525	N	AEFDBHCI	0.116885	0.22922	N	0.127215796981728	0.47735	2.995096	-0.201159305983142	0.31494	1.782947	0.999998666164745	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	0.518	0.16228	4.030000	0.56971	.	.	0.487000	0.22268	0.993000	0.37899	0.000000	0.08366	0.025000	0.12405	0.0:0.7965:0.0:0.2035	5.69	0.17097	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	66693.74	186	chr3	75737092	.	C	T	66693.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.370e+00;DP=4347;ExcessHet=54.0936;FS=3.268;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.30;MQRankSum=-9.287e+00;QD=15.47;ReadPosRankSum=0.780;SOR=0.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,75:212:99:0|1:75737092_C_T:2715,0,5497:75737092	0	0	21	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S	.	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.0	B	0.003	B	.	.	0.811	N	0.185	N	2.5	T	-0.966	T	0.015	T	0.48	0.761	8.026	-1.65	-0.344	-3.350	0.098	0.187	0.00139168871644	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149660902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.08067	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.29002	N	.	.	.	2.5	0.14408	T	0.12	0.05604	N	0.171	0.18239	-0.9656	0.38092	T	0.015	0.05849	T	9	0.041348934	0.02782	T	0.001392	0.02037	T	0.187	0.46274	.	.	0.0138822411134	0.00435	0.003970010212323737	0.00371	.	.	0.350422680378	0.17984	T	.	.	.	-0.230087	0.16639	T	-0.568281	0.15607	T	0.0363333960522166	0.03039	T	0.50295	0.15803	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57473	A	.	.	0.927565	0.13027	9.531	0.78772853777929608	0.12446	0.00288	0.01547	N	AEFDBHCI	0.032938	0.03815	N	-1.56864543804847	0.01428	0.06230873	-1.65490256639135	0.01351	0.06097677	0.999968767302643	0.48965	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	-1.65	0.07849	-1.617000	0.02154	.	.	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2432:0.1819:0.2457:0.3291	0.098	0.00042	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	66461.74	187	chr3	75737094	.	T	A	66461.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.054e+00;DP=4329;ExcessHet=54.0936;FS=4.136;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.41;MQRankSum=-9.552e+00;QD=15.42;ReadPosRankSum=0.880;SOR=0.976	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,76:213:99:0|1:75737092_C_T:2757,0,5515:75737092	0	0	21	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X	.	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	6.506	37	1.59	1.020	2.954	7.316	.	.	.	.	.	.	.	.	.	.	.	.	0.0502536	1308	26028	rs113251431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.648710	0.92795	33	0.9890268774789388	0.48217	0.46426	0.27757	N	AEFDBHCI	0.042646	0.06644	N	0.188175099212538	0.50632	3.251287	-0.154561253355241	0.33234	1.898897	0.999999961661622	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	3.121000	0.50131	.	.	0.539000	0.25131	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.0:1.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	64403.74	176	chr3	75737105	.	T	A	64403.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.795e+00;DP=4269;ExcessHet=54.0936;FS=5.083;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.87;MQRankSum=-1.015e+01;QD=15.17;ReadPosRankSum=0.373;SOR=1.023	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,74:211:99:0|1:75737092_C_T:2695,0,5530:75737092	0	0	21	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q	.	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.738	P	0.672	P	.	.	1.000	N	3.595	H	-2.18	D	0.069	D	0.747	D	0.504	1.222	9.956	0.372	0.124	0.275	4.797	0.462	0.0028455442474	.	.	.	.	.	.	.	.	.	.	0.064008	1666	26028	rs79811623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-5.94	0.89093	D	0.203	0.22486	0.069	0.83596	D	0.747	0.91362	D	9	0.25438643	0.42818	T	0.002846	0.05956	T	0.462	0.75889	.	.	0.358340041657	0.35441	0.0053718602075851244	0.00508	.	.	0.740122795105	0.72990	T	.	.	.	0.0996688	0.64257	D	-0.0946091	0.63811	T	0.721620917320251	0.41781	D	0.784422	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.86443	P	.	.	1.863242	0.23667	16.11	0.75650377613460507	0.11157	0.04138	0.09621	N	AEFDBHCI	0.080253	0.16223	N	-0.306900910275906	0.28885	1.597038	-0.631394962146373	0.18688	0.9994579	0.99995045990878	0.48110	0.632932	0.41330	0	0.666794	0.63253	0	0.002978	0.00130	3	0.756233	0.99697	0	.	.	1.59	0.372	0.15405	0.061000	0.14242	.	.	0.575000	0.29119	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.8077:0.0:0.1923:0.0	4.797	0.12647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	54907.74	170	chr3	75737127	.	A	C	54907.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.246e+00;DP=4011;ExcessHet=54.0936;FS=5.236;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.48;MQRankSum=-1.090e+01;QD=13.78;ReadPosRankSum=0.018;SOR=1.116	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,65:205:99:0|1:75737092_C_T:2308,0,5683:75737092	0	0	21	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del	.	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	31686.7	129	chr3	75737163	.	CCTACATTCT	C	31686.7	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.49;DP=3384;ExcessHet=54.0936;FS=14.269;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.84;MQRankSum=-1.107e+01;QD=9.48;ReadPosRankSum=-6.730e-01;SOR=1.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,42:181:99:0|1:75737092_C_T:1345,0,5701:75737092	0	0	21	0
chr3	75737228	75737228	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2395G:p.T799A	.	.	388	1009	125	0	0	125	0.0583294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.041	B	0.015	B	.	.	1.000	N	0.2	N	2.5	T	-0.978	T	0.017	T	0.263	-0.128	3.371	0.509	0.160	-3.097	4.801	0.015	0.00065624303644	.	.	.	.	.	.	.	.	.	.	0.161595	4206	26028	rs80170761	1.428e-06	1.368e-06	1.409e-06	1.447e-06	1.852e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.852e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.08359	T	0.182	0.29249	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.5	0.14408	T	-0.37	0.13226	N	0.031	0.00770	-0.9782	0.35413	T	0.017	0.07092	T	9	0.04005146	0.02542	T	6.56E-4	0.00350	T	0.015	0.02232	.	.	0.0138822411134	0.00435	0.0025070030530107983	0.00232	.	.	0.570732712746	0.48781	T	.	.	.	-0.29288	0.09349	T	-0.658479	0.08369	T	0.0214846075820914	0.00852	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17189	B	.	.	0.201526	0.05865	2.303	0.46300880358559965	0.03698	0.00280	0.01512	N	AEFDBHCI	0.025509	0.01757	N	-1.44896954151032	0.02225	0.09801469	-1.50829558445683	0.02280	0.1046078	0.999662543695307	0.41534	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.79	0.509	0.16177	-3.477000	0.00510	.	.	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4406:0.0:0.0:0.5593	4.801	0.12662	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2374.81	109	chr3	75737228	.	T	C	2374.81	.	AC=11;AF=0.262;AN=42;BaseQRankSum=1.77;DP=2347;ExcessHet=7.7275;FS=19.670;InbreedingCoeff=-0.3588;MLEAC=11;MLEAF=0.262;MQ=57.63;MQRankSum=-9.053e+00;QD=1.98;ReadPosRankSum=-1.729e+00;SOR=2.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:127,8:135:51:.:.:0,51,5285	10	0	11	0
chr3	75737363	75737363	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2260A:p.G754R	.	.	377	1138	6	1	0	8	0.00350263	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.999	D	0.976	D	.	.	1.000	N	1.34	L	1.75	T	-1.036	T	0.096	T	0.407	2.714	15.04	0.671	0.260	3.782	6.241	0.139	.	.	0.00179712	0.0058	0	0	0	0	0.0004	0.0192	0.0199	0.0003458	9	26028	rs575574342	0.0004	0.0004	0.0002	0.0006	0.0055	0.0004	0.0004	0.0050	0.0049	0	0.0003	3.971e-05	5.592e-05	0	0.0016	8.615e-05	0.0006	0.0055	0.0003	0.0003	0.0002	0.0004	0.0052	0.0002	0.0002	0.0036	0.0031	4.814e-05	0	0.0007	0	0	0	0	0.0001	0.0005	0.0052	0.067	0.35918	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.75	0.26152	T	-5.06	0.82764	D	0.168	0.17828	-1.0355	0.18700	T	0.096	0.36133	T	9	0.0059641004	0.00134	T	.	.	.	0.139	0.37390	.	.	0.104622674875	0.10061	0.00980961737648959	0.00942	.	.	0.490419387817	0.37496	T	.	.	.	-0.136303	0.30480	T	-0.433566	0.29531	T	0.497169524431229	0.32526	T	0.310069	0.06017	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.48103	B	.	.	2.003985	0.25460	16.77	0.99586897620160397	0.73336	0.17469	0.19851	N	AEFDBHCI	0.354098	0.44629	N	-0.197768403212573	0.33227	1.882688	-0.455772624257434	0.23385	1.275013	0.999992681208829	0.74766	0.581397	0.33459	0	0.78372	0.99691	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.61	0.671	0.17097	3.019000	0.49318	.	.	0.415000	0.20742	0.034000	0.20669	0.000000	0.08366	0.001000	0.02609	0.0:0.8151:0.0:0.1849	6.241	0.20003	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1833.98	110	chr3	75737363	.	C	T	1833.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.11;DP=2668;ExcessHet=0.0000;FS=2.025;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.30;MQRankSum=3.92;QD=12.15;ReadPosRankSum=0.768;SOR=0.544	GT:AD:DP:GQ:PL	0/1:81,70:151:99:1848,0,2334	20	0	1	0
chr3	75737503	75737503	T	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2120C:p.N707T	.	.	329	1190	3	0	0	3	0.00125892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.024	B	0.009	B	.	.	0.895	N	1.785	L	3.43	T	-0.961	T	0.018	T	0.349	-0.149	3.272	-3.14	-1.749	-1.789	0.575	0.091	0.000625535279908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.051	0.47828	T	.	.	.	.	.	.	.	.	.	.	0.895327	0.36045	D	.	.	.	3.27	0.06602	T	-0.5	0.15782	N	0.117	0.10626	-0.9611	0.38974	T	0.018	0.07612	T	9	0.05207154	0.05184	T	6.26E-4	0.00303	T	0.091	0.26358	.	.	0.0138822411134	0.00435	0.007749801125605798	0.00739	.	.	0.288034617901	0.08636	T	.	.	.	-0.226952	0.17053	T	-0.563777	0.16024	T	0.0743140232152075	0.09244	T	0.0631937	0.00460	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.31931	B	.	.	0.722317	0.10914	7.584	0.62505135950074286	0.06980	0.00330	0.01723	N	AEFDBHCI	0.050091	0.08720	N	-1.39371744401217	0.02696	0.1194333	-1.5759170739318	0.01803	0.08210552	0.999999003011436	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.57	-3.14	0.04928	-2.740000	0.00869	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.053000	0.15439	0.175:0.279:0.1766:0.3694	0.575	0.00656	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	262.98	158	chr3	75737503	.	T	G	262.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.12;DP=3884;ExcessHet=0.0000;FS=10.032;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.85;MQRankSum=-3.796e+00;QD=1.68;ReadPosRankSum=0.422;SOR=1.716	GT:AD:DP:GQ:PL	0/0:200,0:200:99:0,120,1800	20	0	1	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S	.	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.588	P	0.118	B	.	.	1.000	N	0.78	N	3.45	T	-0.962	T	0.011	T	0.402	2.344	13.80	0.281	0.088	6.618	6.406	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	84334.74	182	chr3	75737519	.	G	A	84334.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.22;DP=4534;ExcessHet=54.0936;FS=3.213;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.20;MQRankSum=-6.820e+00;QD=19.56;ReadPosRankSum=0.348;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,104:205:99:.:.:3917,0,3898	0	0	21	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T	.	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.011	B	0.007	B	.	.	1.000	N	-0.05	N	3.17	T	-0.913	T	0.010	T	0.467	-0.210	2.980	-2.35	-0.437	-5.897	5.111	0.064	0.000918803670254	.	.	.	.	.	.	.	.	.	.	0.0043031	112	26028	rs79103664	2.155e-06	3.424e-06	1.417e-06	2.914e-06	1.862e-06	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	1.736e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	0.82	0.01813	N	0.035	0.01004	-0.9135	0.46415	T	0.010	0.03492	T	9	0.047419846	0.04058	T	9.19E-4	0.00889	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.020703910282481648	0.02023	.	.	0.269451141357	0.06069	T	.	.	.	-0.256687	0.13292	T	-0.606489	0.12271	T	0.0260274478999564	0.01409	T	0.0606939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30634	B	.	.	-0.571595	0.01651	0.116	0.41969334367691202	0.03062	0.00342	0.01773	N	AEFDBHCI	0.055927	0.10297	N	-1.5270329997039	0.01674	0.07322606	-1.61933844482173	0.01542	0.06986147	0.999968620109732	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-2.35	0.06302	-4.932000	0.00197	.	.	-1.902000	0.00523	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5391:0.0:0.0:0.4609	5.111	0.14145	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	93431.74	214	chr3	75737590	.	A	G	93431.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-9.450e-01;DP=4965;ExcessHet=54.0936;FS=1.090;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=53.17;MQRankSum=-1.228e+01;QD=19.03;ReadPosRankSum=0.838;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,128:266:99:0|1:75737590_A_G:4948,0,5407:75737590	0	0	21	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R	.	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.003	B	0.003	B	.	.	1.000	N	-0.66	N	3.16	T	-0.950	T	0.008	T	0.327	0.845	8.413	-3.14	-1.861	-0.144	4.750	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	99264.74	227	chr3	75737608	.	T	C	99264.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.102;DP=5151;ExcessHet=54.0936;FS=0.516;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=52.90;MQRankSum=-1.341e+01;QD=19.33;ReadPosRankSum=0.322;SOR=0.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,129:279:99:0|1:75737590_A_G:4898,0,5898:75737590	0	0	21	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S	.	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.89	P	0.451	P	.	.	1.000	N	2.965	M	2.96	T	-1.054	T	0.045	T	0.468	1.519	11.03	0.405	0.127	-1.802	5.213	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	101560.74	248	chr3	75737622	.	T	A	101560.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.388e+00;DP=5296;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=53.40;MQRankSum=-1.311e+01;QD=19.29;ReadPosRankSum=-1.560e-01;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:153,122:277:99:.:.:4626,0,5957	0	0	21	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C	.	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.994	D	0.387	B	.	.	1.000	N	1.355	L	5.42	T	-0.871	T	0.003	T	0.447	0.648	7.478	0.774	0.291	-3.025	2.500	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	104187.74	246	chr3	75737651	.	G	A	104187.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.82;DP=5303;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.27;MQRankSum=-1.184e+01;QD=19.78;ReadPosRankSum=-8.750e-01;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,116:272:99:0|1:75737651_G_A:4401,0,6201:75737651	0	0	21	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X	.	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	6.220	37	1.71	1.073	0.059	3.984	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	99202.74	235	chr3	75737676	.	A	T	99202.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.21;DP=4967;ExcessHet=54.0936;FS=1.090;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.83;MQRankSum=-9.816e+00;QD=20.18;ReadPosRankSum=-1.028e+00;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,122:265:99:0|1:75737651_G_A:4685,0,5637:75737651	0	0	21	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K	.	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.87	P	0.559	P	.	.	1.000	N	1.11	L	3.2	T	-1.016	T	0.024	T	0.38	2.298	13.64	0.993	0.389	-0.570	6.443	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.475	53271.84	236	chr3	75737840	.	C	T	53271.84	.	AC=19;AF=0.475;AN=40;BaseQRankSum=-1.867e+00;DP=4970;ExcessHet=36.0830;FS=8.679;InbreedingCoeff=-0.8667;MLEAC=20;MLEAF=0.500;MQ=58.83;MQRankSum=-4.939e+00;QD=12.52;ReadPosRankSum=-2.000e-01;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,70:244:99:0|1:75737814_C_T:2384,0,6757:75737814	1	0	19	1
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R	.	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.035	B	0.038	B	.	.	1.000	N	4.015	H	-2.18	D	0.078	D	0.691	D	0.467	1.068	9.361	0.513	0.158	2.178	5.415	0.389	0.00618583320825	.	.	.	.	.	.	.	.	.	.	0.0154833	403	26028	rs76729736	5.018e-06	5.475e-06	2.829e-06	7.267e-06	8.44e-05	2.09e-06	1.34e-06	2.237e-05	1.22e-05	3.194e-05	0	0	8.44e-05	0	0	0	0	3.792e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.031	0.45039	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-7.28	0.94430	D	0.235	0.26475	0.078	0.83778	D	0.691	0.89323	D	9	0.15374556	0.29014	T	0.006186	0.16200	T	0.389	0.70521	.	.	0.26547132957	0.26150	0.029317279208247043	0.02880	.	.	0.705122470856	0.67885	T	.	.	.	0.0863372	0.62775	D	-0.113759	0.62311	T	0.349910879008873	0.27015	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.77471	P	.	.	1.529838	0.19634	14.36	0.57541806715571575	0.05792	0.27383	0.23262	N	AEFDBHCIJ	0.135649	0.25605	N	-0.602165132605538	0.18879	0.9837148	-0.767266515667793	0.15298	0.8039007	0.999994431577383	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.76	0.513	0.16200	2.229000	0.42634	.	.	-0.220000	0.07995	1.000000	0.71638	0.067000	0.22148	0.002000	0.04165	0.0:0.1678:0.0:0.8322	5.415	0.15671	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	26024.74	185	chr3	75737881	.	T	C	26024.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.184e+00;DP=4449;ExcessHet=54.0936;FS=19.179;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.45;MQRankSum=-7.835e+00;QD=6.19;ReadPosRankSum=-4.722e+00;SOR=1.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:189,46:235:99:0|1:75737881_T_C:1138,0,7579:75737881	0	0	21	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	19918.7	193	chr3	75737891	.	G	GAAAT	19918.7	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.779;DP=4144;ExcessHet=54.0936;FS=22.520;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.28;MQRankSum=-8.489e+00;QD=4.94;ReadPosRankSum=-4.220e+00;SOR=2.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,36:222:99:0|1:75737881_T_C:850,0,7659:75737881	0	0	21	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del	.	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18824.7	191	chr3	75737893	.	A	ACTT	18824.7	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.081;DP=4075;ExcessHet=54.0936;FS=23.299;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.20;MQRankSum=-8.682e+00;QD=4.74;ReadPosRankSum=-3.534e+00;SOR=2.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:189,32:221:99:0|1:75737881_T_C:745,0,7754:75737881	0	0	21	0
chr3	75737948	75737949	CT	-	exonic	ZNF717	.	frameshift deletion	ZNF717:NM_001128223:exon5:c.1674_1675del:p.E560Kfs*4	.	.	376	813	333	0	0	333	0.169985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs74340838	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0	0.0001	0	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	7.71e-05	0.0002	0.0003	8.659e-05	7.251e-05	0.0001	8.279e-05	4.816e-05	0	0.0003	0	0	0	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3726.99	218	chr3	75737947	.	CCT	C	3726.99	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-4.750e-01;DP=3538;ExcessHet=1.7912;FS=15.802;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=57.52;MQRankSum=-1.248e+01;QD=3.68;ReadPosRankSum=0.449;SOR=1.772	GT:AD:DP:GQ:PL	0/0:185,0:185:99:0,120,1800	15	0	6	0
chr3	75738008	75738008	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1615A:p.E539K	.	.	374	899	248	1	0	250	0.12207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.236	B	0.014	B	.	.	1.000	N	0.635	N	3.2	T	-0.977	T	0.011	T	0.371	1.043	9.260	-3.59	-1.049	-1.278	0.971	0.040	0.00103100052401	.	.	0.0035	0	0	0	0	0.0041	0	0.0070	0.0381512	993	26028	rs77322475	0.0003	0.0005	0.0003	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	3.974e-05	0.0002	0	2.459e-05	0	0.0004	0.0002	0.0006	0.0003	0.0004	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	0.0001	0	0	0.0003	0	9.43e-05	0	0.0002	0.0009	0.0054	0.057	0.37966	T	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.57	0.55501	D	0.164	0.17278	-0.9770	0.35683	T	0.011	0.04042	T	9	0.006899923	0.00157	T	0.001031	0.01144	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.004688527706481307	0.00441	.	.	0.455887436867	0.32748	T	.	.	.	-0.247215	0.14443	T	-0.592883	0.13417	T	0.0202189277908029	0.00722	T	0.157184	0.01392	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.35931	B	.	.	0.663217	0.10314	7.047	0.74861509555931272	0.10855	0.00293	0.01568	N	AEFDBHCIJ	0.019046	0.00627	N	-1.65826808888533	0.01001	0.04337943	-1.78840371790065	0.00797	0.0355687	0.999985886557565	0.51787	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.8	-3.59	0.04290	-1.723000	0.01966	.	.	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1742:0.3948:0.172:0.259	0.971	0.01326	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4167	9964.28	257	chr3	75738008	.	C	T	9964.28	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-1.381e+00;DP=4529;ExcessHet=17.4423;FS=5.547;InbreedingCoeff=-0.6412;MLEAC=16;MLEAF=0.444;MQ=57.21;MQRankSum=-1.159e+01;QD=2.93;ReadPosRankSum=3.26;SOR=1.304	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:228,15:243:56:0|1:75737994_T_C:0,56,9491:75737994	3	0	15	3
chr3	75738053	75738053	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1570T:p.V524F	.	.	359	1071	92	0	0	92	0.0411817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.888	P	0.346	B	.	.	1.000	N	1.18	L	3.18	T	-1.017	T	0.014	T	0.416	0.583	7.147	-3.58	-1.068	-1.364	4.138	0.074	0.00104650146877	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75063165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	3.18	0.07478	T	-2.6	0.55983	D	0.148	0.15046	-1.0173	0.24592	T	0.014	0.05753	T	9	0.11586878	0.21842	T	0.001047	0.01191	T	0.074	0.21613	.	.	0.0138822411134	0.00435	0.0034182461744823667	0.00319	.	.	0.563414692879	0.47750	T	.	.	.	-0.246862	0.14487	T	-0.592376	0.13461	T	0.28954122460075	0.24571	T	0.0661934	0.00482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.60172	A	.	.	0.533719	0.09024	5.806	0.95230003730299473	0.26460	0.00215	0.01220	N	AEFDBHCIJ	0.026943	0.02113	N	-1.1142521379857	0.06388	0.2939498	-1.36117125995018	0.03676	0.1719606	0.99999365082094	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-3.170000	0.00633	.	.	-2.136000	0.00379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2892:0.3399:0.3708	4.138	0.09647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3611	6970.11	234	chr3	75738053	.	C	A	6970.11	.	AC=13;AF=0.361;AN=36;BaseQRankSum=-2.270e+00;DP=4323;ExcessHet=11.8493;FS=4.208;InbreedingCoeff=-0.5294;MLEAC=14;MLEAF=0.389;MQ=57.15;MQRankSum=-1.006e+01;QD=2.47;ReadPosRankSum=-1.315e+00;SOR=1.290	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:217,0:217:99:.:.:0,120,1800	5	0	13	3
chr3	75738071	75738071	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1552C:p.C518R	.	.	356	1145	20	0	1	21	0.00865801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.0	B	0.0	B	.	.	1.000	N	-0.87	N	3.21	T	-0.915	T	0.007	T	0.332	-1.903	0.008	-0.593	-0.086	-0.759	2.786	0.031	0.000738598015433	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78680336	1.676e-06	1.383e-06	1.643e-06	1.712e-06	2.128e-06	2.8e-07	1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.128e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	0.11191	T	0.621	0.07419	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.21	0.07125	T	2.23	0.00314	N	0.019	0.00279	-0.9149	0.46233	T	0.007	0.02360	T	9	0.046755195	0.03906	T	7.39E-4	0.00510	T	0.031	0.07369	.	.	0.0138822411134	0.00435	0.002225550650649705	0.00206	.	.	0.525679767132	0.42426	T	.	.	.	-0.29785	0.08864	T	-0.665617	0.07892	T	0.0535102972529573	0.06106	T	0.0253975	0.00153	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.53324	B	.	.	-1.114804	0.00623	0.016	0.37644118236720736	0.02493	0.00136	0.00836	N	AEFDBHCIJ	0.016194	0.00350	N	-1.60520409349473	0.01239	0.05388159	-1.61920287810212	0.01543	0.06989911	0.999942708847049	0.47345	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-0.593	0.11083	-1.649000	0.02095	.	.	-2.516000	0.00258	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.17:0.0:0.3549:0.4751	2.786	0.05043	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2	2892.1	214	chr3	75738071	.	A	G	2892.1	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-9.740e-01;DP=3983;ExcessHet=3.5521;FS=8.270;InbreedingCoeff=-0.2377;MLEAC=8;MLEAF=0.200;MQ=57.37;MQRankSum=-1.015e+01;QD=1.67;ReadPosRankSum=-1.907e+00;SOR=1.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:214,0:214:99:.:.:0,120,1800	12	0	8	1
chr3	75738074	75738074	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1549T:p.R517C	.	.	352	1156	14	0	0	14	0.00601892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.001	B	.	.	1.000	N	1.21	L	3.11	T	-0.989	T	0.016	T	0.343	0.147	4.790	-3.58	-1.677	-0.063	5.171	0.059	0.00168171448549	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs370022573	2.178e-05	2.351e-05	2.299e-05	2.052e-05	7.637e-05	1.515e-05	1.287e-05	2.05e-05	1.277e-05	7.382e-05	0	0	7.637e-05	0	0	1.914e-05	0	6.214e-05	1.314e-05	2.625e-05	0	2.686e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.159	0.23813	T	0.3	0.20357	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.11	0.08194	T	-0.06	0.07882	N	0.048	0.01999	-0.9892	0.32803	T	0.016	0.06569	T	9	0.03303978	0.01470	T	0.001682	0.02779	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.002613494462515561	0.00242	.	.	0.5004529953	0.38892	T	.	.	.	-0.277008	0.10988	T	-0.635679	0.09988	T	0.0130366375576749	0.00227	T	0.0907909	0.00672	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.45520	B	.	.	0.194387	0.05799	2.242	0.73132658542385853	0.10218	0.00363	0.01856	N	AEFDBHCIJ	0.023887	0.01396	N	-1.62321359239289	0.01153	0.05010462	-1.76099622892232	0.00892	0.03989968	0.999989264977476	0.51787	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-2.248000	0.01271	.	.	-5.905000	0.00006	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.629:0.1528:0.2182:0.0	5.171	0.14438	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2	1932.26	212	chr3	75738074	.	G	A	1932.26	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-9.700e-02;DP=3886;ExcessHet=3.5521;FS=8.966;InbreedingCoeff=-0.2654;MLEAC=8;MLEAF=0.200;MQ=57.53;MQRankSum=-9.911e+00;QD=1.13;ReadPosRankSum=-2.333e+00;SOR=1.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:199,0:199:99:.:.:0,120,1800	12	0	8	1
chr3	75738077	75738077	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1546G:p.F516V	.	.	351	1158	13	0	0	13	0.00558179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	N	3.56	H	0.99	T	-0.796	T	0.314	T	0.499	2.958	15.86	1.91	1.185	4.477	7.900	0.273	0.00436624551321	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78763958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.99	0.41750	T	-6.9	0.93293	D	0.254	0.28732	-0.7956	0.55403	T	0.314	0.68424	T	9	0.37955025	0.54090	T	0.004366	0.10624	T	0.273	0.58883	.	.	0.134241683229	0.13084	0.004951265273006765	0.00467	.	.	0.695522069931	0.66498	T	.	.	.	-0.0135903	0.49761	T	-0.257298	0.49093	T	0.969250798225403	0.68526	D	0.390061	0.09662	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.758	0.75417	P	.	.	2.832235	0.37339	20.5	0.96884311371509557	0.31473	0.34734	0.25137	N	AEFDBHCIJ	0.282251	0.39563	N	0.258654387862171	0.54069	3.573403	-0.0427249932617247	0.37806	2.218651	0.999999981817215	0.74766	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.91	1.91	0.24841	4.720000	0.61636	.	.	0.610000	0.48991	0.993000	0.37899	0.919000	0.28284	0.003000	0.05239	1.0:0.0:0.0:0.0	7.900	0.28894	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2	1551.64	205	chr3	75738077	.	A	C	1551.64	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-1.917e+00;DP=3863;ExcessHet=3.5521;FS=11.803;InbreedingCoeff=-0.2553;MLEAC=8;MLEAF=0.200;MQ=57.57;MQRankSum=-9.670e+00;QD=0.92;ReadPosRankSum=-2.700e+00;SOR=1.968	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:199,0:199:99:.:.:0,120,1800	12	0	8	1
chr3	75738100	75738100	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1523G:p.E508G	.	.	348	1167	7	0	0	7	0.00299018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.051	B	0.018	B	.	.	1.000	N	1.605	L	3.17	T	-0.965	T	0.018	T	0.433	2.181	13.25	-1.16	-0.196	-1.100	2.211	0.056	0.00108464547182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.383e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	7.222e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	-4.64	0.79316	D	0.093	0.07262	-0.9647	0.38270	T	0.018	0.07518	T	9	0.0837622	0.13969	T	0.001085	0.01263	T	0.056	0.15993	.	.	0.0297737177859	0.01360	0.0024874068709695107	0.00230	.	.	0.391209244728	0.23840	T	.	.	.	-0.207823	0.19686	T	-0.5363	0.18662	T	0.836542546749115	0.49048	D	0.0133987	0.00072	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	0.43721	B	.	.	1.912526	0.24293	16.34	0.99674252685792053	0.78782	0.00841	0.03370	N	AEFDBHCIJ	0.042616	0.06635	N	-0.890987982149614	0.11055	0.5315283	-0.985280104525926	0.10115	0.5074318	0.999965122713944	0.48965	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.9	-1.16	0.09181	-0.659000	0.05423	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.4643:0.1624:0.0:0.3733	2.211	0.03707	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	98.42	194	chr3	75738100	.	T	C	98.42	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.354e+00;DP=3501;ExcessHet=0.1072;FS=17.067;InbreedingCoeff=-0.0385;MLEAC=1;MLEAF=0.024;MQ=58.20;MQRankSum=-1.008e+01;QD=0.23;ReadPosRankSum=-3.737e+00;SOR=2.725	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:196,0:196:99:.:.:0,120,1800	19	0	2	0
chr3	75738346	75738346	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1277G:p.D426G	.	.	357	1164	1	0	0	1	0.000429369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.625	P	0.246	B	.	.	1.000	N	0.465	N	3.19	T	-0.970	T	0.012	T	0.387	0.829	8.344	-1.43	-0.263	-1.033	3.653	0.079	0.00157043738241	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs879020387	0.0007	0.0007	0.0004	0.0010	0.0117	0.0007	0.0007	0.0111	0.0108	0	2.849e-05	0	5.744e-05	0	0.0002	2.81e-06	0.0008	0.0117	0.0004	0.0004	0.0002	0.0007	0.0132	0.0003	0.0003	0.0106	0.0097	0	0	0	0	0	0	0	0	0	0.0132	0.096	0.31088	T	0.072	0.43344	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.19	0.07353	T	-0.93	0.24898	N	0.146	0.14763	-0.9695	0.37304	T	0.012	0.04653	T	9	0.0047684014	0.00101	T	0.00157	0.02497	T	0.079	0.23065	.	.	0.0297737177859	0.01360	0.0025789429370471208	0.00239	.	.	0.440825641155	0.30690	T	.	.	.	-0.241313	0.15182	T	-0.584406	0.14154	T	0.124967762573498	0.14909	T	0.339966	0.07337	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.37198	B	.	.	0.693887	0.10624	7.327	0.94663330734589946	0.25280	0.00604	0.02691	N	AEFDBHCI	0.027213	0.02183	N	-0.978679924300545	0.09059	0.4272455	-1.15547001181155	0.06670	0.3218333	0.999960434078766	0.48965	0.562547	0.31514	0	0.653731	0.59785	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.75	-1.43	0.08418	-1.023000	0.03718	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2216:0.0:0.4486:0.3298	3.653	0.07747	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1800.98	171	chr3	75738346	.	T	C	1800.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.937;DP=3811;ExcessHet=0.0000;FS=3.036;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.59;MQRankSum=6.36;QD=7.38;ReadPosRankSum=-8.960e-01;SOR=0.616	GT:AD:DP:GQ:PL	0/0:232,0:232:99:0,120,1800	20	0	1	0
chr3	75738862	75738862	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A761G:p.Q254R	.	.	410	1102	10	0	0	10	0.00451671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.563	P	0.264	B	.	.	1.000	N	1.32	L	3.4	T	-0.989	T	0.018	T	0.472	0.786	8.143	1.02	0.330	0.848	1.882	0.071	0.000884616217576	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1283106105	7.232e-05	0.0009	5.367e-05	9.149e-05	0.0009	6.049e-05	5.643e-05	0.0005	0.0004	0	2.805e-05	0.0002	0	2.037e-05	0.0009	3.155e-05	6.917e-05	0.0006	0.0005	0.0011	0.0005	0.0005	0.0038	0.0004	0.0004	0.0024	0.0020	9.625e-05	0	0.0002	0.0038	0	0	0.0034	0.0005	0.0005	0.0038	0.016	0.51853	D	0.329	0.18617	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.24	0.06845	T	-0.45	0.14782	N	0.064	0.03613	-0.9894	0.32753	T	0.018	0.07470	T	9	0.035342604	0.01779	T	8.85E-4	0.00800	T	0.071	0.20720	.	.	0.0138822411134	0.00435	0.005907457050966571	0.00559	.	.	0.415047764778	0.27154	T	.	.	.	-0.129762	0.31533	T	-0.42417	0.30598	T	0.219472870230675	0.21438	T	0.187481	0.01957	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.24192	B	.	.	0.025700	0.04461	1.182	0.93998594445757111	0.24092	0.03754	0.09060	N	AEFDBHCI	.	.	.	-0.679949763349119	0.16595	0.8468296	-0.835604802873844	0.13633	0.7083299	0.999996066291213	0.74766	0.372202	0.05800	0	0.546412	0.12157	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.2	1.02	0.19102	0.438000	0.21277	.	.	-1.123000	0.01469	0.006000	0.17386	0.000000	0.08366	0.000000	0.00833	0.273:0.1678:0.0:0.5592	1.882	0.03033	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	377.11	200	chr3	75738862	.	T	C	377.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.720e-01;DP=4348;ExcessHet=0.1072;FS=4.278;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.38;MQRankSum=-3.642e+00;QD=0.63;ReadPosRankSum=0.097;SOR=1.294	GT:AD:DP:GQ:PL	0/0:231,0:231:99:0,120,1800	19	0	2	0
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E	.	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.981	D	0.792	P	.	.	1.000	N	1.63	L	1.0	T	-1.005	T	0.128	T	0.5	0.800	8.209	0.059	0.039	0.285	5.008	0.131	0.00294703274024	.	.	.	.	.	.	.	.	.	.	0.0484862	1262	26028	rs79165653	3.574e-06	3.42e-06	1.411e-06	5.798e-06	0.0001	1.05e-06	7.6e-07	5.451e-05	3.56e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-2.66	0.56945	D	0.098	0.07949	-1.0050	0.28457	T	0.128	0.43625	T	9	0.097314626	0.17517	T	0.002947	0.06280	T	0.131	0.35738	.	.	0.0401082797425	0.02173	0.0035025799895356665	0.00327	.	.	0.341039121151	0.16594	T	.	.	.	-0.112133	0.34416	T	-0.398848	0.33517	T	0.425942718982697	0.29910	T	0.179282	0.01775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.873037	0.12461	8.992	0.65778472644257657	0.07869	0.01043	0.03895	N	AEFDBCI	.	.	.	-0.639186145779198	0.17776	0.9175853	-0.902737289243841	0.12029	0.6164352	0.999962026466227	0.48965	0.69289	0.55638	0	0.636889	0.57051	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.07	0.059	0.13643	0.766000	0.26225	.	.	0.439000	0.21057	0.011000	0.18532	0.000000	0.08366	0.002000	0.04165	0.0:0.638:0.2172:0.1447	5.008	0.13643	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4524	5856.69	126	chr3	75739165	.	C	T	5856.69	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-8.800e-02;DP=2841;ExcessHet=36.0830;FS=16.853;InbreedingCoeff=-0.8321;MLEAC=19;MLEAF=0.452;MQ=57.03;MQRankSum=-7.844e+00;QD=2.33;ReadPosRankSum=-1.424e+00;SOR=1.267	GT:AD:DP:GQ:PL	0/1:120,20:140:99:190,0,3671	2	0	19	0
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K	.	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.588	P	0.118	B	.	.	1.000	N	0.805	L	0.91	T	-1.039	T	0.052	T	0.501	-1.711	0.011	-0.13	-0.008	-0.013	8.996	0.115	0.00164498502106	.	.	.	.	.	.	.	.	.	.	0.0684647	1782	26028	rs4011155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.979	0.02012	T	0.602	0.07894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.44856	T	-0.17	0.09627	N	0.04	0.01347	-1.0394	0.17495	T	0.052	0.22269	T	9	0.04538721	0.03603	T	0.001645	0.02676	T	0.115	0.32236	.	.	0.0138822411134	0.00435	0.01612756142273845	0.01568	.	.	0.421879798174	0.28096	T	.	.	.	-0.0408301	0.45825	T	-0.296426	0.45101	T	0.177929786236283	0.19104	T	0.340666	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43102	B	.	.	0.246741	0.06266	2.719	0.63846773733670814	0.07333	0.00471	0.02257	N	AEFDBCI	.	.	.	-0.990502388475167	0.08805	0.414299	-1.12680793005723	0.07191	0.3488778	0.99994075275372	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.13	-0.13	0.12839	0.783000	0.26463	.	.	0.493000	0.22426	0.008000	0.17931	0.055000	0.21918	0.006000	0.07323	0.0:0.4319:0.5681:0.0	8.996	0.35214	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	13994.74	75	chr3	75739283	.	G	T	13994.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.485e+00;DP=2154;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.74;MQRankSum=-4.923e+00;QD=6.68;ReadPosRankSum=0.840;SOR=0.744	GT:AD:DP:GQ:PL	0/1:62,32:94:99:572,0,1710	0	0	21	0
chr3	75783319	75783319	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon2:c.A44G:p.K15R	.	.	435	1081	6	0	0	6	0.00276753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.94	T	0.0	B	0.0	B	.	.	1.000	N	0.345	N	5.71	T	-0.926	T	0.008	T	0.116	-1.294	0.039	-1.36	-2.651	-3.474	1.476	0.009	0.000564864142892	.	0.000599042	0.0019	0	0	0	0.0067	0.0020	0	0.0019	0.0003816	59	154602	rs200732985	0.0016	0.0016	0.0015	0.0017	0.0025	0.0016	0.0015	0.0019	0.0018	0.0001	0.0017	0.0004	0	0.0048	0.0025	0.0016	0.0013	0.0021	0.0018	0.0018	0.0014	0.0022	0.0040	0.0016	0.0015	0.0032	0.0029	0.0003	0	0.0040	0.0009	0	0.0075	0	0.0015	0.0038	0.0017	0.625	0.05229	T	0.575	0.08654	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.63	0.00800	T	0.16	0.05217	N	0.105	0.08925	-0.9263	0.44673	T	0.008	0.02638	T	9	0.0034832656	0.00062	T	5.65E-4	0.00221	T	0.009	0.00846	.	.	0.0138822411134	0.00435	.	.	.	.	0.44257286191	0.30929	T	.	.	.	-0.362653	0.03982	T	-0.758702	0.03159	T	0.000936598037175086	0.00009	T	0.117088	0.00899	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05491	B	.;.	.;.	-0.654536	0.01430	0.085	0.42003831646120476	0.03067	0.00052	0.00397	N	AEFBI	0.032541	0.03697	N	-2.46002138049039	0.00020	0.0008536196	-2.52387715534705	0.00020	0.0008998555	0.999150149960223	0.38592	0.732398	0.92422	0	0.627608	0.54475	0	0.743671	0.96076	0	0.755437	0.99637	0	.	.	0.682	-1.36	0.08610	-3.613000	0.00464	.	.	-2.122000	0.00385	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.44:0.0:0.2484:0.3115	1.476	0.02279	987	0.02648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1639.08	37	chr3	75783319	.	T	C	1639.08	.	AC=2;AF=0.048;AN=42;DP=708;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=59.06;QD=28.26;SOR=0.762	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1005	20	1	0	0
chr3	77644824	77644824	G	A	exonic	ROBO2	.	nonsynonymous SNV	ROBO2:NM_002942:exon25:c.G4055A:p.G1352D	Vesicoureteral reflux 2	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.032	B	0.022	B	0.258	N	0.977	N	0.345	N	0.08	T	-0.862	T	0.128	T	0.491	1.268	10.14	3.96	1.477	3.610	11.074	0.142	0.0221585222715	.	0.000199681	0.0001	0	0	0	0	0	0	0.0010	0.00011	17	154602	rs572241591	7.183e-05	7.182e-05	2.859e-05	0.0001	0.0012	6.047e-05	5.595e-05	0.0010	0.0009	0	0	0	0	0	0	0	3.311e-05	0.0012	1.971e-05	1.969e-05	1.285e-05	2.686e-05	0.0006	5.24e-06	2.45e-06	0.0002	9e-05	0	0	0	0	0	0	0	0	0	0.0006	0.217	0.19157	T	0.291	0.20944	T	0.019	0.20242	B	0.01	0.19653	B	0.257835	0.15376	N	0.574388	.	.	.	0.69	0.16971	N	0.04	0.62051	T	-0.4	0.13805	N	0.55	0.57604	-0.8616	0.51147	T	0.128	0.43605	T	9	0.026407957	0.00808	T	0.022159	0.45019	T	0.142	0.37995	0.254	0.19378	0.634610383517	0.63161	0.1199702226167593	0.11924	0.906306764254	0.70861	0.367698311806	0.20500	T	0.07521	0.35123	T	-0.329118	0.06178	T	-0.291083	0.45659	T	0.0761246468019623	0.09484	T	0.919908	0.71037	D	0.07709696	0.17478	0.087880485	0.20454	0.07709696	0.17478	0.087880485	0.20453	-6.877	0.53129	T	.	.	0.391	0.59171	A	.;.;.;.	.;.;.;.	3.321073	0.45673	22.2	0.98292896658502682	0.39964	0.87374	0.46894	D	AEFI	0.244250	0.36539	N	-0.346994630172498	0.27382	1.501914	-0.192624434260049	0.31806	1.803503	2.96866884556585E-4	0.06406	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.85	3.96	0.45097	3.643000	0.54109	4.948000	0.46261	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.130000	0.19568	0.0692:0.1295:0.8013:0.0	11.074	0.47240	587	0.69154	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2544.98	33	chr3	77644824	.	G	A	2544.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.120e-01;DP=878;ExcessHet=0.0000;FS=0.561;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.46;ReadPosRankSum=1.48;SOR=0.764	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1449	20	0	1	0
chr3	78635999	78635999	C	G	exonic	ROBO1	.	nonsynonymous SNV	ROBO1:NM_133631:exon21:c.G3012C:p.E1004D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.994	D	0.98	D	0.000	D	1.000	D	1.21	L	0.08	T	-0.574	T	0.323	T	0.881	3.681	18.71	4.95	2.760	1.398	15.268	0.299	0.0184739262062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.24955	T	0.285	0.22223	T	0.129	0.27048	B	0.017	0.18140	B	0.000000	0.84330	D	0.000000	0.999874	0.81001	D	1.3	0.32576	L	-0.14	0.65006	T	-0.48	0.15379	N	0.681	0.85872	-0.5740	0.65856	T	0.323	0.69212	T	9	0.51534003	0.62333	D	0.018474	0.40544	T	0.299	0.61955	0.276	0.22845	0.725575895725	0.72314	0.4363927623519087	0.43556	0.385509509165	0.39847	0.832643508911	0.86968	D	0.089484	0.38381	T	0.243285	0.77971	D	0.111685	0.77684	D	0.880515336990356	0.53053	D	0.918108	0.70532	D	0.22721666	0.45418	0.17843194	0.40511	0.22721666	0.45418	0.17843194	0.40511	-3.459	0.15863	T	.	.	0.517	0.65679	A	.;.;.;.;.	.;.;.;.;.	3.746743	0.53679	23.4	0.99791699033783055	0.87750	0.97721	0.76654	D	AEFGBI	0.518753	0.54432	D	0.324147789907383	0.57389	3.906178	0.406543260201941	0.61973	4.405	0.99979840680322	0.43153	0.693126	0.56070	0	0.670034	0.63936	0	0.643519	0.47002	0	0.564101	0.26826	0	.	.	5.83	4.95	0.64894	1.558000	0.35917	3.301000	0.37383	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.932:0.0:0.0679	15.268	0.73374	726	0.54788	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2135.98	36	chr3	78635999	.	C	G	2135.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.890e-01;DP=848;ExcessHet=0.0000;FS=2.170;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.26;ReadPosRankSum=-9.120e-01;SOR=0.947	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1261	20	0	1	0
chr3	78636022	78636022	C	G	exonic	ROBO1	.	nonsynonymous SNV	ROBO1:NM_133631:exon21:c.G2989C:p.D997H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.998	D	0.000	D	1.000	D	2.015	M	-0.03	T	-0.185	T	0.485	T	0.925	4.274	22.3	5.83	2.760	7.481	20.188	0.568	0.075943623554	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362349763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.574e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.001	0.78490	D	0.007	0.70582	D	0.964	0.55854	D	0.85	0.60657	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.66	0.77858	M	-0.42	0.69536	T	-3.83	0.72120	D	0.919	0.96984	-0.1846	0.78064	T	0.485	0.80380	T	9	0.8028444	0.79662	D	0.075944	0.72411	D	0.568	0.82403	0.401	0.43081	0.874461143817	0.87323	0.6700011757709224	0.66938	0.172477267296	0.19426	0.871970117092	0.92849	D	0.57956	0.86210	D	0.364	0.87554	D	0.285085	0.87394	D	0.98997962474823	0.80191	D	0.974303	0.90829	D	0.6686501	0.76360	0.7567971	0.85628	0.6686501	0.76361	0.7567971	0.85628	-8.551	0.64766	D	.	.	0.871	0.80976	P	.;.;.;.;.	.;.;.;.;.	4.449201	0.69149	25.3	0.99579719261836652	0.72921	0.99513	0.96930	D	AEFGBI	0.884537	0.81429	D	0.637129451586293	0.75538	6.323737	0.693572481651574	0.81888	7.633738	0.999999999917185	0.74766	0.634777	0.41761	0	0.670034	0.63936	0	0.643519	0.47002	0	0.668105	0.65232	0	.	.	5.83	5.83	0.93059	7.562000	0.81274	7.713000	0.66906	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.188	0.98225	726	0.54788	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2005.98	36	chr3	78636022	.	C	G	2005.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=834;ExcessHet=0.0000;FS=4.279;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.55;ReadPosRankSum=-1.523e+00;SOR=1.090	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1261	20	0	1	0
chr3	81499145	81499145	C	T	exonic	GBE1	.	nonsynonymous SNV	GBE1:NM_000158:exon15:c.G2017A:p.A673T,	Glycogen storage disease IV, Autosomal recessive;Polyglucosan body disease, adult form, Autosomal recessive	.	0	1516	6	0	0	6	0.00197498	.	.	237241	not_provided|not_specified|Adult_polyglucosan_body_disease|Glycogen_storage_disease,_type_IV|Glycogen_storage_disease_IV,_classic_hepatic	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009897,MedGen:C1849722,OMIM:263570,Orphanet:206583|MONDO:MONDO:0009292,MedGen:C0017923,OMIM:232500,Orphanet:367|MedGen:C1856301	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.04	B	0.063	B	0.053	N	1.000	N	0.895	L	-1.03	T	-0.944	T	0.192	T	0.082	2.224	13.39	-6.41	-1.098	-1.432	15.613	0.170	0.0209843052686	0.0051	0.00359425	0.0062	0.0027	0.0026	0	0.0026	0.0092	0.0099	0.0033	0.0053169	822	154602	rs193074572	0.0081	0.0082	0.0082	0.0080	0.0097	0.0080	0.0079	0.0096	0.0095	0.0011	0.0027	0.0014	2.526e-05	0.0033	0.0005	0.0097	0.0061	0.0029	0.0051	0.0051	0.0054	0.0048	0.0084	0.0048	0.0047	0.0078	0.0076	0.0013	0.0011	0.0065	0.0017	0.0002	0.0027	0	0.0084	0.0052	0.0025	0.14	0.29688	T	0.428	0.13792	T	0.04	0.21238	B	0.063	0.27082	B	0.053228	0.22826	N	0.447307	1	0.08975	N	0.725	0.18768	N	-1.03	0.76430	T	0.31	0.04022	N	0.133	0.17002	-0.9436	0.42041	T	0.192	0.54492	T	10	0.0044651926	0.00092	T	0.020984	0.43686	T	0.170	0.43303	.	.	0.582387198248	0.57910	0.2603481956488323	0.25948	0.0302225200915	0.03118	0.327351212502	0.14534	T	0.271486	0.64382	T	-0.51797	0.00452	T	-0.50984	0.21332	T	0.0152593911035752	0.00336	T	0.648535	0.25952	T	0.3072132	0.53543	0.2720019	0.53106	0.25094965	0.48100	0.2300308	0.48092	-2.076	0.03482	T	0.11054611392725656	0.09354	0.073	0.05360	B	.;.	.;.	1.720614	0.21908	15.40	0.96461790017494398	0.29904	0.03797	0.09124	N	AEFBI	0.115306	0.22676	N	-1.03998975745024	0.07785	0.3628444	-1.10618961208121	0.07582	0.3693311	0.997967661421841	0.36249	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.35	-6.41	0.01766	-1.198000	0.03144	-0.333000	0.09875	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.964000	0.52637	0.0:0.2238:0.6471:0.1291	15.613	0.76486	721	0.55360	Alpha-amylase/branching enzyme, C-terminal all beta;Alpha-amylase/branching enzyme, C-terminal all beta	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1221.98	33	chr3	81499145	.	C	T	1221.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.300e-02;DP=803;ExcessHet=0.0000;FS=1.582;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.64;ReadPosRankSum=-3.530e-01;SOR=0.513	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1153	20	0	1	0
chr3	81705479	81705479	G	A	exonic	GBE1	.	nonsynonymous SNV	GBE1:NM_000158:exon2:c.C278T:p.P93L,	Glycogen storage disease IV, Autosomal recessive;Polyglucosan body disease, adult form, Autosomal recessive	.	1	1517	4	0	0	4	0.00131666	.	.	1296949	Glycogen_storage_disease_IV,_classic_hepatic|Glycogen_storage_disease,_type_IV|not_provided	MedGen:C1856301|MONDO:MONDO:0009292,MedGen:C0017923,OMIM:232500,Orphanet:367|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.095	H	0.47	T	0.362	D	0.542	D	0.889	4.595	25.0	5.95	2.821	8.158	19.992	0.676	0.116309487317	0.0003	.	0.0006	0.0002	0	0	0	0.0011	0	9.47e-05	0.0003234	50	154602	rs200746350	0.0002	0.0002	0.0002	0.0002	0.0030	0.0002	0.0002	0.0019	0.0016	0.0001	7.074e-05	0.0005	5.129e-05	0.0001	0.0030	0.0002	0.0004	7.286e-05	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	9.909e-05	0.0001	0	6.577e-05	0.0006	0	0	0.0068	0.0002	0.0009	0.0002	0.007	0.61437	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.55	0.99125	H	0.4	0.57261	T	-9.38	0.98366	D	0.954	0.96302	0.362	0.88522	D	0.542	0.83127	D	10	0.87893015	0.87196	D	0.116309	0.79575	D	0.676	0.88061	.	.	0.868842128559	0.86756	0.9044751675611274	0.90420	0.24233950412	0.26745	0.635639071465	0.57945	T	0.869942	0.97182	D	0.106689	0.65007	D	0.243435	0.85308	D	0.94285124540329	0.61745	D	0.964504	0.87236	D	0.7518404	0.80975	0.7430891	0.84814	0.7518404	0.80976	0.7430891	0.84815	-11.505	0.82356	D	0.8420623431114873	0.91034	0.505	0.67004	A	.;.	.;.	5.653290	0.92823	33	0.99864189080316934	0.94276	0.98118	0.79751	D	AEFBI	0.851463	0.76833	D	1.08428805011824	0.97833	16.85521	0.996798358039505	0.98564	18.64579	0.999999983699363	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.653264	0.51672	0	0.727631	0.95156	0	.	.	5.95	5.95	0.96415	8.352000	0.89977	11.657000	0.93945	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.0:0.0:1.0:0.0	19.992	0.97369	725	0.54935	Glycoside hydrolase, family 13, N-terminal;Glycoside hydrolase, family 13, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	820.98	36	chr3	81705479	.	G	A	820.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.107;DP=768;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=-3.900e-02;SOR=0.611	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1036	20	0	1	0
chr3	81705581	81705581	A	G	exonic	GBE1	.	nonsynonymous SNV	GBE1:NM_000158:exon2:c.T176C:p.I59T,	Glycogen storage disease IV, Autosomal recessive;Polyglucosan body disease, adult form, Autosomal recessive	YES	4	1508	10	0	0	10	0.00330469	.	.	251288	Glycogen_storage_disease,_type_IV|not_provided|Glycogen_storage_disease_IV,_classic_hepatic|Adult_polyglucosan_body_disease|not_specified	MONDO:MONDO:0009292,MedGen:C0017923,OMIM:232500,Orphanet:367|MedGen:C3661900|MedGen:C1856301|MONDO:MONDO:0009897,MedGen:C1849722,OMIM:263570,Orphanet:206583|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	0.928	P	0.666	P	0.000	D	1.000	D	2.665	M	2.04	T	-0.881	T	0.103	T	0.707	3.179	16.64	5.68	2.170	7.725	15.602	0.441	.	0.0064	0.00259585	0.0097	0.0024	0.0421	0	0.0063	0.0133	0.0055	0.0010	0.0001153	3	26028	rs28763904	0.0085	0.0085	0.0088	0.0082	0.0160	0.0084	0.0083	0.0149	0.0145	0.0014	0.0160	0.0017	2.635e-05	0.0046	0.0023	0.0097	0.0080	0.0014	0.0058	0.0059	0.0060	0.0057	0.0088	0.0055	0.0054	0.0082	0.0079	0.0026	0	0.0085	0.0012	0	0.0038	0	0.0088	0.0028	0.0010	0.034	0.91255	D	0.029	0.63109	D	0.77	0.51611	P	0.635	0.52990	P	0.000001	0.62929	D	0.060137	0.999754	0.48800	D	2.81	0.81869	M	2.04	0.22881	T	-4.06	0.74582	D	0.751	0.76111	-0.8811	0.49673	T	0.103	0.37919	T	10	0.008882791	0.00201	T	.	.	.	0.441	0.74447	.	.	0.554998169399	0.55159	0.8401685403857482	0.83976	0.0776506249003	0.08735	0.550522863865	0.45930	T	0.80746	0.95153	D	-0.238304	0.15566	T	-0.100147	0.63387	T	0.0341103399524452	0.02657	T	0.80472	0.45382	T	0.55795115	0.70396	0.46722043	0.69090	0.6176909	0.73641	0.40715906	0.65069	-9.391	0.70179	D	0.4827135688746418	0.56107	0.219	0.46631	B	.;.	.;.	4.169048	0.62671	24.5	0.99722489659481284	0.82125	0.98285	0.81260	D	AEFBI	0.877212	0.80171	D	0.638303647204842	0.75615	6.337142	0.626751715871886	0.76887	6.574937	0.999992195512693	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.68	5.68	0.88021	7.792000	0.84405	11.054000	0.85340	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.753000	0.35893	1.0:0.0:0.0:0.0	15.602	0.76378	725	0.54935	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1161.98	36	chr3	81705581	.	A	G	1161.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.810e-01;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=1.34;SOR=0.675	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1036	20	0	1	0
chr3	86968949	86968949	T	A	exonic	VGLL3	.	nonsynonymous SNV	VGLL3:NM_001320493:exon3:c.A578T:p.H193L	.	.	402	1099	21	0	0	21	0.00946372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.41	B	0.071	B	0.000	D	1.000	D	2.215	M	0.88	T	-0.883	T	0.110	T	0.887	4.360	23.0	5.81	2.224	4.314	15.816	0.222	.	0.0081	0.00379393	0.0074	0.0032	0.0036	0	0.0107	0.0098	0.0067	0.0054	0.007115	1100	154602	rs79345443	0.0098	0.0098	0.0100	0.0097	0.0113	0.0097	0.0096	0.0109	0.0108	0.0021	0.0049	0.0054	5.038e-05	0.0106	0.0113	0.0111	0.0086	0.0058	0.0074	0.0074	0.0073	0.0074	0.0108	0.0070	0.0069	0.0102	0.0099	0.0020	0.0164	0.0056	0.0052	0.0002	0.0116	0.0306	0.0108	0.0099	0.0058	0.004	0.68238	D	0.359	0.23164	T	0.41	0.35064	B	0.071	0.27960	B	0.000429	0.44522	D	0.154637	0.999985	0.54805	D	2.425	0.70256	M	0.88	0.47815	T	-4.36	0.76980	D	0.511	0.54234	-0.8835	0.49480	T	0.110	0.39699	T	10	0.008695096	0.00197	T	.	.	.	0.222	0.51872	.	.	0.276065633971	0.27208	0.5476830193202381	0.54694	0.400510994764	0.41053	0.588839530945	0.51330	T	0.154338	0.49559	T	-0.118266	0.33408	T	0.0653047	0.74597	D	0.0378037034534093	0.03297	T	0.849215	0.53152	T	0.3485719	0.56956	0.3174082	0.57715	0.3485719	0.56956	0.3174082	0.57715	-2.864	0.08788	T	.	.	0.117	0.27433	B	.;.	.;.	3.321003	0.45673	22.2	0.97824064956744039	0.36213	0.97110	0.72748	D	AEFBI	0.616044	0.60276	D	0.240166363538059	0.53154	3.485651	0.351726897792337	0.58611	4.032735	0.999999999999794	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.644132	0.48003	0	0.714379	0.83352	0	.	.	5.81	5.81	0.92413	2.870000	0.48150	5.137000	0.47688	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	15.816	0.78379	606	0.67383	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	3720.68	34	chr3	86968949	.	T	A	3720.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.67;DP=910;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=0.313;SOR=0.714	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1111	18	0	3	0
chr3	88156531	88156531	A	C	exonic	C3orf38	.	nonsynonymous SNV	C3orf38:NM_173824:exon3:c.A886C:p.S296R,	.	.	432	1073	17	0	0	17	0.00785945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.903	P	0.488	P	0.000	D	1.000	D	1.59	L	.	.	-0.749	T	0.211	T	0.592	2.811	15.36	5.94	2.276	2.067	15.575	0.094	0.00771124799525	0.0008	0.00239617	0.0016	9.686e-05	0.0014	0	0	0.0010	0	0.0068	0.0015718	243	154602	rs144964842	0.0011	0.0011	0.0008	0.0013	0.0108	0.0010	0.0010	0.0086	0.0078	0.0002	0.0013	0.0002	0	0	0.0108	0.0007	0.0012	0.0060	0.0008	0.0008	0.0007	0.0009	0.0072	0.0007	0.0006	0.0054	0.0047	0.0002	0	0.0009	0.0006	0	0	0.0068	0.0008	0.0009	0.0072	0.055	0.38407	T	0.172	0.30241	T	0.903	0.49795	P	0.488	0.47288	P	0.000118	0.50451	D	0.239934	1	0.81001	D	2.095	0.58118	M	.	.	.	-1.65	0.39503	N	0.135	0.13198	-0.7493	0.57972	T	0.211	0.57161	T	9	0.005760461	0.00128	T	0.007711	0.20457	T	0.094	0.27141	0.407	0.44066	0.290590437066	0.28656	0.46539843059232	0.46458	0.421916988096	0.42699	.	.	.	0.072036	0.34354	T	-0.29569	0.09073	T	-0.195457	0.55076	T	0.045307739800619	0.04659	T	0.679032	0.28770	T	0.15625943	0.35272	0.22768274	0.47786	0.15625943	0.35271	0.22768274	0.47785	-4.038	0.24370	T	.	.	0.206	0.43200	B	.	.	2.403142	0.30876	18.57	0.99496805485098294	0.67801	0.90119	0.51049	D	AEFBI	0.227174	0.35101	N	0.266374301638923	0.54454	3.610836	0.302216373142641	0.55669	3.729846	0.99999990689436	0.74766	0.706548	0.73137	0	0.662677	0.63036	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.94	5.94	0.96165	1.793000	0.38397	3.348000	0.37762	0.756000	0.94297	0.459000	0.26636	0.986000	0.30841	0.992000	0.67800	1.0:0.0:0.0:0.0	15.575	0.76115	264	0.89640	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	887.98	37	chr3	88156531	.	A	C	887.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.933e+00;DP=772;ExcessHet=0.0000;FS=2.070;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=-1.184e+00;SOR=0.970	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,100,1331	20	0	1	0
chr3	88467137	88467137	G	C	exonic	CSNKA2IP	.	nonsynonymous SNV	CSNKA2IP:NM_001368165:exon2:c.G1780C:p.D594H	.	.	498	1020	3	1	0	5	0.00244499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs553847678	0.0003	0.0003	0.0002	0.0003	0.0087	0.0002	0.0002	0.0062	0.0054	0	0	0	4.357e-05	0	0.0030	0.0002	0.0004	0.0087	0.0003	0.0003	0.0002	0.0005	0.0091	0.0003	0.0002	0.0070	0.0062	0	0	0	0	0	0	0	7.355e-05	0	0.0091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03327939	0.01500	T	.	.	.	.	.	.	.	.	.	0.04547636252887201	0.04491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505949	0.15996	T	0.09049101	0.21175	0.19390145	0.42984	0.09049101	0.21175	0.19390145	0.42983	-3.649	0.18568	T	.	.	0.675	0.71933	P	.	.	4.143791	0.62103	24.4	0.71298972143786876	0.09582	0.78093	0.38479	D	AEFI	.	.	.	.	.	.	.	.	.	2.08141837707866E-5	0.02871	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.700406	0.42877	4.71	3.75	0.42236	1.958000	0.40027	7.218000	0.57839	0.589000	0.31548	0.978000	0.35038	1.000000	0.68203	0.989000	0.64315	0.1261:0.0:0.8739:0.0	6.989	0.23925	807	0.43470	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	31.47	3	chr3	88467137	.	G	C	31.47	.	AC=2;AF=0.056;AN=36;DP=149;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.4170;MLEAC=1;MLEAF=0.028;MQ=60.00;QD=15.73;SOR=0.693	GT:AD:DP:GQ:PL	0/0:3,0:3:9:0,9,113	17	1	0	3
chr3	93896595	93896595	G	A	exonic	PROS1	.	nonsynonymous SNV	PROS1:NM_000313:exon9:c.C946T:p.R316C	Thrombophilia due to protein S deficiency, autosomal dominant, Autosomal dominant;Thrombophilia due to protein S deficiency, autosomal recessive, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	171092	Thrombophilia_due_to_protein_S_deficiency,_autosomal_dominant	MONDO:MONDO:0012868,MedGen:C3278211,OMIM:612336,Orphanet:26349,Orphanet:743	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.994	D	0.451	P	0.000	D	0.996	D	2.39	M	-1.29	T	-0.099	T	0.458	T	0.828	3.038	16.14	3.27	0.929	2.991	9.760	0.772	0.211630375543	7.7e-05	.	8.304e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs373983977	1.986e-05	1.984e-05	1.772e-05	2.202e-05	5.986e-05	1.394e-05	1.205e-05	1.297e-05	1.107e-05	5.986e-05	0	0	2.523e-05	3.746e-05	0	1.981e-05	0	2.32e-05	1.315e-05	1.314e-05	1.285e-05	1.347e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.001	0.78490	D	0.0	0.92824	D	0.994	0.66517	D	0.451	0.46123	P	0.000345	0.45440	D	0.140326	0.996465	0.43220	D	2.455	0.71248	M	-1.29	0.79475	T	-5.55	0.86222	D	0.573	0.59563	-0.0993	0.80114	T	0.458	0.78906	T	10	0.79052854	0.78621	D	0.21163	0.87314	D	0.772	0.92336	.	.	0.884098710478	0.88296	0.840314568435197	0.83991	0.857722285798	0.68820	0.374407976866	0.21462	T	0.914914	0.98428	D	0.137353	0.68072	D	0.141049	0.79612	D	0.97763192653656	0.71938	D	0.962554	0.87544	D	0.41946554	0.62056	0.3013882	0.56171	0.42343158	0.62320	0.2826289	0.54251	-12.918	0.89022	D	0.6004163980831876	0.66741	0.168	0.42578	B	.;.;.;.;.;.	.;.;.;.;.;.	4.891198	0.80306	27.3	0.9989055907089649	0.96436	0.85839	0.45018	D	AEFI	0.703703	0.65965	D	0.315380665006207	0.56936	3.859433	0.26823352362745	0.53693	3.537079	4.95242543320642E-5	0.03989	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	4.17	3.27	0.36580	3.333000	0.51806	9.668000	0.81212	0.481000	0.22134	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:0.527:0.473	9.760	0.39691	608	0.67185	Laminin G domain;Laminin G domain;.;Laminin G domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2697.98	37	chr3	93896595	.	G	A	2697.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=914;ExcessHet=0.0000;FS=5.428;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.40;MQRankSum=2.00;QD=12.15;ReadPosRankSum=2.79;SOR=0.779	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr3	93900833	93900833	C	T	exonic	PROS1	.	nonsynonymous SNV	PROS1:NM_000313:exon7:c.G698A:p.R233K	Thrombophilia due to protein S deficiency, autosomal dominant, Autosomal dominant;Thrombophilia due to protein S deficiency, autosomal recessive, Autosomal recessive	.	79	1375	60	8	0	76	0.0268931	.	.	171093	Thrombophilia_due_to_protein_S_deficiency,_autosomal_recessive|Thrombophilia_due_to_protein_S_deficiency,_autosomal_dominant|Finnish_congenital_nephrotic_syndrome|Protein_S_deficiency_disease|PROS1-related_disorder	MONDO:MONDO:0013791,MedGen:C3281092,OMIM:614514,Orphanet:743|MONDO:MONDO:0012868,MedGen:C3278211,OMIM:612336,Orphanet:26349,Orphanet:743|MONDO:MONDO:0009732,MedGen:C0403399,OMIM:256300,Orphanet:839|MONDO:MONDO:0002304,MeSH:D018455,MedGen:C0242666|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.481	N	1.000	N	-0.44	N	-2.22	D	-0.833	T	0.221	T	0.672	-0.520	1.629	-0.333	0.110	-0.158	1.258	0.502	.	0.0020	0.00698882	0.0074	0.0006	0.0032	0	0.0024	0.0037	0.0099	0.0351	0.0066105	1022	154602	rs41267007	0.0055	0.0055	0.0047	0.0064	0.0338	0.0054	0.0054	0.0328	0.0324	0.0004	0.0025	0.0016	5.039e-05	0.0023	0.0184	0.0040	0.0056	0.0338	0.0031	0.0031	0.0026	0.0035	0.0366	0.0028	0.0027	0.0322	0.0305	0.0006	0	0.0014	0.0003	0	0.0022	0	0.0032	0.0014	0.0366	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.480529	0.12171	N	0.758803	0.999972	0.18612	N	0.58	0.15352	N	-2.22	0.87038	D	0.13	0.05503	N	0.094	0.07398	-0.8327	0.53127	T	0.221	0.58434	T	10	0.0106553435	0.00236	T	.	.	.	0.502	0.78475	.	.	0.679094201566	0.67636	0.3702398663570681	0.36937	0.232416631394	0.25783	0.252426564693	0.04027	T	0.512652	0.82801	D	-0.266576	0.12141	T	-0.13132	0.60861	T	0.00268860779094126	0.00028	T	0.672333	0.34027	T	0.22805142	0.45518	0.050635796	0.07989	0.23177832	0.45955	0.044609684	0.05819	-3.187	0.12322	T	0.09818819590687654	0.06992	0.084	0.11172	B	.;.;.;.;.;.	.;.;.;.;.;.	0.873033	0.12461	8.992	0.72373484607788618	0.09951	0.09182	0.14989	N	AEFI	0.180271	0.30757	N	-0.987964775886933	0.08860	0.4170622	-0.855430635375312	0.13157	0.6810129	1.10828034484068E-5	0.01202	0.638212	0.43195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	4.08	-0.333	0.12042	-0.162000	0.10000	0.805000	0.21696	0.434000	0.20985	0.157000	0.23755	0.999000	0.35428	0.703000	0.34233	0.1717:0.3795:0.2108:0.238	1.258	0.01874	609	0.67094	EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1737.98	33	chr3	93900833	.	C	T	1737.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=875;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.27;MQRankSum=0.855;QD=9.93;ReadPosRankSum=-1.521e+00;SOR=0.652	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1390	20	0	1	0
chr3	97864497	97864497	G	C	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon3:c.G497C:p.G166A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.176	B	0.067	B	.	.	.	.	0.55	N	.	.	-1.021	T	0.060	T	0.033	2.454	14.17	-0.74	-0.080	-0.116	7.318	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.24987	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.08088	-1.0208	0.23454	T	0.060	0.25018	T	7	0.055968434	0.06201	T	.	.	.	.	.	0.303	0.27164	0.273938319068	0.27005	0.022292894865064933	0.02181	.	.	0.236989021301	0.02526	T	0.007286	0.06705	T	-0.3578	0.04256	T	-0.751731	0.03418	T	0.085074701965501	0.10623	T	0.439356	0.12115	T	0.03425154	0.03807	0.05392461	0.09175	0.03425154	0.03806	0.05392461	0.09175	-3.511	0.16586	T	.	.	0.106	0.19598	B	.	.	0.974818	0.13522	10.04	0.95084620413448162	0.26140	0.12024	0.17012	N	AEFBI	0.055106	0.10077	N	-1.08820943550069	0.06859	0.3169777	-1.11539344402348	0.07405	0.3601082	0.0786887617552347	0.15796	0.615465	0.37627	0	0.588015	0.36545	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.93	-0.74	0.10555	-0.069000	0.11501	-0.399000	0.09423	-0.227000	0.07798	0.001000	0.13787	0.000000	0.08366	0.008000	0.08271	0.4289:0.1226:0.4484:0.0	7.318	0.25687	793	0.45818	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1359.98	33	chr3	97864497	.	G	C	1359.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.998;DP=823;ExcessHet=0.0000;FS=3.101;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.23;ReadPosRankSum=0.334;SOR=0.595	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr3	97872638	97872638	A	G	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon4:c.A1444G:p.S482G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.034	B	0.053	B	.	.	.	.	0	N	.	.	-0.945	T	0.085	T	0.08	1.641	11.45	5.54	2.253	3.642	12.382	0.063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1275720693	3.614e-06	3.42e-06	2.854e-06	4.394e-06	.	1.06e-06	7.7e-07	.	.	0	0	0.0002	0	0	0	0	0	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.202	0.27414	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.05799	-0.9452	0.41781	T	0.085	0.33157	T	7	0.05533442	0.06031	T	.	.	.	.	.	0.108	0.01928	0.318540980066	0.31459	0.03117744300148179	0.03066	.	.	0.302836418152	0.10825	T	0.002812	0.02207	T	-0.22275	0.17618	T	-0.557742	0.16589	T	0.206638440489769	0.20777	T	0.332967	0.07033	T	0.12926772	0.30197	0.19615456	0.43331	0.12926772	0.30197	0.19615456	0.43330	-4.729	0.33754	T	.	.	0.086	0.10642	B	.	.	2.424042	0.31176	18.66	0.98972277043059709	0.49560	0.88934	0.49109	D	ALL	0.283089	0.39627	N	-0.409609654799359	0.25131	1.362	-0.237916553393413	0.30190	1.69769	0.999999999999781	0.74766	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.678554	0.66404	0	.	.	5.54	5.54	0.82907	3.452000	0.52735	4.425000	0.43330	0.756000	0.94297	0.790000	0.29595	0.437000	0.24884	0.447000	0.27828	1.0:0.0:0.0:0.0	12.382	0.54639	797	0.45241	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2148.98	34	chr3	97872638	.	A	G	2148.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.702;DP=1231;ExcessHet=0.0000;FS=1.998;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=0.893;SOR=0.571	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,114,1237	20	0	1	0
chr3	97873496	97873496	C	T	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon4:c.C2302T:p.L768F,	.	.	437	1082	3	0	0	3	0.0013844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.98	D	0.868	P	.	.	.	.	0	N	.	.	-0.923	T	0.090	T	0.102	3.408	17.51	-0.227	0.101	-0.852	7.162	0.085	.	.	0.000399361	0.0025	0	0.0110	0	0	0	0.0303	0.0032	0.0002135	33	154602	rs530439999	0.0002	0.0002	0.0001	0.0003	0.0035	0.0002	0.0002	0.0032	0.0031	0	0	0	0	0	0.0002	3.801e-05	0.0002	0.0035	9.849e-05	9.843e-05	8.994e-05	0.0001	0.0021	6.002e-05	4.876e-05	0.0011	0.0009	0	0	0	0	0	0	0	7.35e-05	0	0.0021	.	.	.	0.045	0.49390	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.07535	-0.9226	0.45196	T	0.090	0.34573	T	7	0.0031359792	0.00052	T	.	.	.	.	.	0.086	0.00867	0.396494342077	0.39262	0.029264508604183646	0.02875	.	.	0.252706408501	0.04058	T	0.005386	0.04831	T	-0.602205	0.00141	T	-0.639275	0.09721	T	0.0415745136270678	0.03976	T	0.383762	0.09387	T	0.035481438	0.04184	0.05835297	0.10769	0.035481438	0.04184	0.05835297	0.10769	-4.39	0.29421	T	.	.	0.116	0.23535	B	.	.	1.010879	0.13896	10.46	0.99822679519019375	0.90502	0.02458	0.06908	N	AEFBI	0.047416	0.07982	N	-0.455476399467726	0.23554	1.265745	-0.604193542525911	0.19385	1.039807	0.999373362842815	0.39355	0.615465	0.37627	0	0.588015	0.36545	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.25	-0.227	0.12456	-0.563000	0.06034	-0.761000	0.07536	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.920000	0.45560	0.569:0.347:0.0:0.0839	7.162	0.24843	797	0.45241	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2208.98	34	chr3	97873496	.	C	T	2208.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.290e-01;DP=1302;ExcessHet=0.0000;FS=1.260;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.81;ReadPosRankSum=1.34;SOR=0.573	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,114,1237	20	0	1	0
chr3	97874311	97874311	G	C	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon4:c.G3117C:p.K1039N,	.	.	421	1095	6	0	0	6	0.00273224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.89	T	0.612	P	0.169	B	.	.	.	.	0.55	N	.	.	-1.040	T	0.037	T	0.02	0.839	8.386	1.5	0.781	0.676	3.799	0.071	.	.	0.000199681	0.0003	0	0	0	0	0.0003	0	0.0003	4.53e-05	7	154602	rs545501003	0.0001	0.0001	9.613e-05	0.0001	0.0011	0.0001	9.513e-05	0.0005	0.0003	0	9.001e-05	0	0	0	0.0011	9.751e-05	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0012	8.163e-05	6.72e-05	0.0005	0.0004	2.406e-05	0	0	0	0	0	0	0.0002	0	0.0012	.	.	.	0.382	0.15890	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.01347	-1.0399	0.17343	T	0.037	0.15770	T	7	0.016171455	0.00340	T	.	.	.	.	.	0.245	0.17984	0.285316908763	0.28143	0.04143981067802156	0.04088	.	.	0.278338164091	0.07262	T	0.006264	0.05696	T	-0.54011	0.00334	T	-0.704739	0.05570	T	0.0271983793388053	0.01573	T	0.383762	0.09387	T	0.047787875	0.08224	0.07991907	0.18035	0.047787875	0.08224	0.07991907	0.18035	-3.106	0.11365	T	.	.	0.195	0.41572	B	.	.	1.118892	0.15045	11.54	0.98103698228327851	0.38294	0.07102	0.13128	N	AEFGBI	0.072287	0.14421	N	-0.701834051002309	0.15969	0.8095747	-0.704154069798076	0.16857	0.8937132	0.298767732514436	0.19166	0.615465	0.37627	0	0.588015	0.36545	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.76	1.5	0.22029	0.709000	0.25407	0.511000	0.19080	0.676000	0.76740	0.130000	0.23345	0.410000	0.24754	0.727000	0.35000	0.3031:0.1835:0.5134:0.0	3.799	0.08267	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1898.98	34	chr3	97874311	.	G	C	1898.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.123e+00;DP=1349;ExcessHet=0.0000;FS=2.156;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.76;ReadPosRankSum=-6.560e-01;SOR=0.936	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,114,1237	20	0	1	0
chr3	97875341	97875341	C	G	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon4:c.C4147G:p.L1383V,	.	.	434	1080	8	0	0	8	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0249601	.	.	.	.	.	.	.	.	0.008414	219	26028	rs75843914	0.0046	0.0047	0.0038	0.0055	0.0702	0.0045	0.0045	0.0678	0.0669	0.0006	0.0213	0.0021	0.0702	0	0.0025	0.0002	0.0059	0.0425	0.0049	0.0050	0.0037	0.0062	0.0548	0.0046	0.0045	0.0496	0.0475	0.0009	0	0.0120	0.0014	0.0548	0	0.0034	0.0003	0.0043	0.0445	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00666	.	.	.	.	.	.	.	0.0036702454	0.00067	T	.	.	.	.	.	.	.	0.61907107664	0.61598	0.006938976387440674	0.00660	.	.	.	.	.	3.93E-4	0.00124	T	-0.592346	0.00162	T	-0.560261	0.16352	T	.	.	.	0.29697	0.05508	T	0.034461148	0.03870	0.09793139	0.23330	0.034461148	0.03870	0.09793139	0.23329	-3.433	0.15504	T	.	.	0.052	0.00239	B	.	.	-1.091764	0.00650	0.018	0.49300846330134845	0.04186	0.00533	0.02466	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00212894333082125	0.09174	0.162113	0.03585	0	0.084543	0.02171	0	0.078618	0.02440	0	0.24566	0.04862	0	0.22281	0.31441	5.54	-1.58	0.08029	-0.145000	0.10248	-0.022000	0.12912	-0.791000	0.03245	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.2729:0.1138:0.4988:0.1145	3.049	0.05790	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2620.11	34	chr3	97875341	.	C	G	2620.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.088e+00;DP=1614;ExcessHet=0.1072;FS=10.744;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.97;ReadPosRankSum=1.21;SOR=0.298	GT:AD:DP:GQ:PL	0/1:54,55:109:99:1406,0,1523	19	0	2	0
chr3	97876101	97876101	T	A	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon4:c.T4907A:p.V1636E,	.	.	550	963	7	2	0	11	0.00567888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	0.0015368	40	26028	rs563227058	0.0019	0.0014	0.0020	0.0019	0.0058	0.0019	0.0019	0.0037	0.0031	0.0003	0.0010	0.0025	0	4.646e-05	0.0058	0.0021	0.0026	0.0008	0.0014	0.0014	0.0015	0.0013	0.0023	0.0012	0.0012	0.0020	0.0018	0.0005	0	0.0010	0.0032	0	0	0.0136	0.0023	0.0014	0.0006	.	.	.	0.518	0.10536	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.47487	.	.	.	.	.	.	.	0.082324326	0.13574	T	.	.	.	.	.	.	.	0.511390160789	0.50780	0.018251165105256286	0.01779	.	.	.	.	.	0.006785	0.06218	T	-0.352112	0.04595	T	-0.283488	0.46446	T	.	.	.	0.283372	0.04986	T	0.2454906	0.47508	0.42236373	0.66140	0.2454906	0.47508	0.42236373	0.66140	-6.021	0.46455	T	.	.	0.155	0.34361	B	.	.	0.785365	0.11556	8.151	0.69355214578720015	0.08946	0.05428	0.11301	N	AEFBI	.	.	.	.	.	.	.	.	.	6.40570740953169E-5	0.04366	0.162113	0.03585	0	0.195528	0.04277	0	0.183335	0.04453	0	0.24566	0.04862	0	0.173009	0.29061	4.69	-0.601	0.11054	0.026000	0.13490	-0.205000	0.10907	0.665000	0.62972	0.001000	0.13787	0.000000	0.08366	0.082000	0.17360	0.0:0.3364:0.0:0.6636	8.498	0.32299	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2235.98	153	chr3	97876101	.	T	A	2235.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.46;DP=2709;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=-1.810e-01;SOR=0.673	GT:AD:DP:GQ:PL	0/0:140,0:140:99:0,120,1800	20	0	1	0
chr3	97876679	97876679	G	A	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon4:c.G5485A:p.V1829I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.498	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.01203	.	.	.	.	.	.	.	0.093532234	0.16559	T	.	.	.	.	.	.	.	0.649314703251	0.64640	0.02279940728365987	0.02231	.	.	.	.	.	0.002528	0.01914	T	-0.210633	0.19290	T	-0.540336	0.18263	T	.	.	.	0.630437	0.24556	T	0.0154797435	0.00141	0.0631296	0.12458	0.0154797435	0.00141	0.0631296	0.12458	-3.973	0.23398	T	.	.	0.076	0.06114	B	.	.	-0.174721	0.03221	0.538	0.62637516100819468	0.07014	0.01068	0.03958	N	AEFBI	.	.	.	.	.	.	.	.	.	6.49206290079249E-5	0.04366	0.162113	0.03585	0	0.084543	0.02171	0	0.183335	0.04453	0	0.24566	0.04862	0	0.0777541	0.17876	4.56	0.686	0.17179	-0.430000	0.07043	0.190000	0.15733	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.5109:0.0:0.4891:0.0	7.209	0.25101	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07895	73.95	40	chr3	97876679	.	G	A	73.95	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-4.141e+00;DP=2512;ExcessHet=0.3300;FS=138.063;InbreedingCoeff=-0.1030;MLEAC=2;MLEAF=0.053;MQ=60.00;MQRankSum=0.00;QD=0.16;ReadPosRankSum=1.12;SOR=8.801	GT:AD:DP:GQ:PL	0/0:178,0:178:99:0,120,1800	16	0	3	2
chr3	97943228	97943228	G	C	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon22:c.G8827C:p.G2943R,	.	.	421	1091	8	2	0	12	0.00546946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	1.855	L	0.74	T	-0.557	T	0.301	T	0.949	4.628	25.3	6.05	2.866	5.836	20.609	0.414	0.0133127964576	0.0008	0.000798722	0.0016	0	0.0040	0	0.0002	0.0013	0.0011	0.0035	0.0013842	214	154602	rs200227709	0.0009	0.0009	0.0008	0.0011	0.0041	0.0009	0.0009	0.0038	0.0036	0.0003	0.0030	0.0015	0	0.0002	0.0041	0.0006	0.0016	0.0041	0.0008	0.0008	0.0008	0.0008	0.0029	0.0007	0.0006	0.0018	0.0014	7.225e-05	0	0.0021	0.0014	0	9.42e-05	0	0.0009	0.0010	0.0029	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000002	0.62929	D	0.000000	0.999994	0.58761	D	.	.	.	.	.	.	.	.	.	0.529	0.55799	-0.5573	0.66507	T	0.301	0.67176	T	10	0.008728862	0.00198	T	0.013313	0.32613	T	0.414	0.72479	.	.	0.498323335527	0.49468	0.7809699892528092	0.78047	.	.	0.621887564659	0.55996	T	0.099996	0.40535	T	0.108382	0.65183	D	0.380486	0.91445	D	0.0675549314376714	0.08304	T	0.889511	0.62170	D	0.3247882	0.55041	0.50215834	0.71221	0.3247882	0.55041	0.50215834	0.71222	-9.378	0.70097	D	.	.	0.584	0.68218	P	.	.	4.639010	0.73833	26.1	0.99930496646971168	0.99334	0.98205	0.80520	D	AEFBIJ	0.790918	0.71966	D	0.817446058385006	0.87186	9.131236	0.826914054235287	0.91597	10.969	0.99999990056684	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.05	6.05	0.98156	5.971000	0.70140	9.846000	0.81956	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.609	0.99471	803	0.44167	Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	797.98	34	chr3	97943228	.	G	C	797.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=777;ExcessHet=0.0000;FS=1.913;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.93;ReadPosRankSum=-5.320e-01;SOR=0.930	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1143	20	0	1	0
chr3	97959143	97959143	G	A	exonic	RIOX2	.	nonsynonymous SNV	RIOX2:NM_001042533:exon4:c.C589T:p.R197C	.	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.991	D	0.000	N	1.000	D	3.12	M	1.74	T	-0.693	T	0.191	T	0.457	4.339	22.8	4.83	1.402	3.301	10.475	0.322	0.0467941150693	7.7e-05	0.000199681	7.538e-05	9.726e-05	0.0003	0	0	3.042e-05	0.0011	0.0001	7.76e-05	12	154602	rs139798076	3.626e-05	3.694e-05	4.356e-05	2.888e-05	0.0001	2.828e-05	2.565e-05	5.806e-05	3.953e-05	8.962e-05	0.0001	0	0	0	0	3.148e-05	6.624e-05	5.799e-05	5.914e-05	5.906e-05	6.427e-05	5.377e-05	0.0001	3.077e-05	2.21e-05	2.847e-05	1.858e-05	4.818e-05	0	0.0001	0	0	0	0	7.351e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	0.000007	0.62929	N	0.104471	1	0.81001	D	.	.	.	1.74	0.26301	T	-6.44	0.92863	D	0.677	0.68516	-0.6933	0.60754	T	0.191	0.54374	T	10	0.49388278	0.61152	T	0.046794	0.62625	D	0.322	0.64420	.	.	0.714182674065	0.71167	0.694416627719886	0.69382	0.157335627491	0.17763	0.527468681335	0.42678	T	0.220221	0.58345	T	-0.163076	0.26288	T	-0.268424	0.47978	T	0.95701676607132	0.64902	D	0.914809	0.77539	D	0.8947657	0.90920	0.6947757	0.82031	0.8947657	0.90922	0.6947757	0.82032	-10.007	0.74181	D	.	.	0.125	0.44910	B	.;.;.;.	.;.;.;.	5.081930	0.84817	28.4	0.99935816785145226	0.99621	0.94251	0.60575	D	AEFDBI	0.577835	0.57927	D	0.714640541929416	0.80590	7.328504	0.643502203300203	0.78127	6.814307	0.999992056326012	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.71	4.83	0.61880	3.386000	0.52232	5.090000	0.47345	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0693:0.0:0.7973:0.1334	10.475	0.43843	798	0.45050	JmjC domain|JmjC domain;JmjC domain|JmjC domain;.;JmjC domain|JmjC domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	801.98	39	chr3	97959143	.	G	A	801.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.397;DP=743;ExcessHet=0.0000;FS=3.035;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.56;ReadPosRankSum=0.750;SOR=0.330	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1106	20	0	1	0
chr3	97986930	97986930	C	-	exonic	GABRR3	.	frameshift deletion	GABRR3:NM_001105580:exon10:c.1157delG:p.C386Ffs*16,	.	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7e-05	.	8.683e-05	0	0	0	0	5.953e-05	0.0014	0.0003	6.47e-05	10	154602	rs529176049	8.838e-05	8.824e-05	8.994e-05	8.681e-05	0.0012	7.566e-05	7.112e-05	0.0006	0.0004	0	0.0002	3.836e-05	0	0	0.0012	8.282e-05	9.947e-05	0.0002	5.256e-05	5.253e-05	7.707e-05	2.69e-05	0.0001	2.557e-05	1.83e-05	5.841e-05	4.238e-05	0	0	0	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1063.94	37	chr3	97986929	.	AC	A	1063.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=791;ExcessHet=0.0000;FS=0.877;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=0.244;SOR=0.912	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1123	20	0	1	0
chr3	98025612	98025612	G	T	exonic	GABRR3	.	nonsynonymous SNV	GABRR3:NM_001105580:exon3:c.C193A:p.L65I,	.	.	435	1073	13	1	0	15	0.00694123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4e-05	0.00119808	0.0010	0.0001	0.0002	0	0	3.038e-05	0.0011	0.0071	0.0008279	128	154602	rs373571752	0.0005	0.0005	0.0003	0.0007	0.0075	0.0005	0.0005	0.0070	0.0068	0	6.722e-05	0	2.522e-05	0	0.0026	4.409e-05	0.0004	0.0075	0.0003	0.0003	0.0001	0.0004	0.0083	0.0002	0.0002	0.0063	0.0056	0	0	6.545e-05	0	0	0	0	4.411e-05	0	0.0083	.	.	.	0.066	0.44501	T	0.994	0.66517	D	0.96	0.70309	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.379	0.42050	.	.	.	.	.	.	.	0.008395404	0.00190	T	.	.	.	.	.	.	.	0.380564188046	0.37663	0.3712657671114812	0.37040	.	.	.	.	.	0.029975	0.21354	T	-0.436084	0.01364	T	-0.396152	0.33832	T	.	.	.	0.926807	0.73035	D	0.040386066	0.05755	0.10034804	0.23989	0.040386066	0.05754	0.10034804	0.23988	-5.38	0.40726	T	.	.	0.160	0.35352	B	.;.	.;.	3.592328	0.50700	23.0	0.99037997461322957	0.50962	0.90578	0.51870	D	AEFBHCI	0.325211	0.42686	N	.	.	.	.	.	.	0.459144162129251	0.20609	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.85	3.04	0.34171	3.155000	0.50398	.	.	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.382000	0.26379	0.1782:0.0:0.8218:0.0	9.468	0.37989	772	0.48957	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	935.98	34	chr3	98025612	.	G	T	935.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.810e-01;DP=779;ExcessHet=0.0000;FS=0.803;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=0.803;SOR=0.578	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1410	20	0	1	0
chr3	98025619	98025619	C	G	exonic	GABRR3	.	nonsynonymous SNV	GABRR3:NM_001105580:exon3:c.G186C:p.E62D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0011	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	0.0003	0	7.677e-05	2.526e-05	1.873e-05	0.0002	0.0004	0.0003	4.662e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.37173	T	0.029	0.19866	B	0.098	0.30479	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.22357	.	.	.	.	.	.	.	0.10471362	0.19318	T	.	.	.	.	.	.	.	0.352476196916	0.34857	0.40720103366486365	0.40636	.	.	.	.	.	0.006922	0.06344	T	-0.218202	0.18239	T	-0.551208	0.17211	T	.	.	.	0.407359	0.10471	T	0.03210559	0.03173	0.050597325	0.07975	0.03210559	0.03173	0.050597325	0.07974	-3.351	0.14404	T	.	.	0.132	0.28435	B	.;.	.;.	0.811300	0.11821	8.392	0.99029985120482455	0.50786	0.65308	0.32694	D	AEFBHCI	0.127138	0.24438	N	.	.	.	.	.	.	0.114311401285484	0.16729	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.85	-0.445	0.11631	-0.039000	0.12076	.	.	0.597000	0.34315	0.594000	0.27698	0.000000	0.08366	0.053000	0.15439	0.145:0.4054:0.0:0.4496	5.182	0.14491	772	0.48957	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	155.59	57	chr3	98025619	.	C	G,T	155.59	.	AC=1,3;AF=0.025,0.075;AN=40;BaseQRankSum=-3.105e+00;DP=1411;ExcessHet=0.6776;FS=340.609;InbreedingCoeff=-0.1204;MLEAC=1,3;MLEAF=0.025,0.075;MQ=60.00;MQRankSum=0.00;QD=0.34;ReadPosRankSum=0.606;SOR=10.823	GT:AD:DP:GQ:PL	0/0:85,20,20:125:61:0,101,2090,61,1963,2053	16	0	1	1
chr3	98132879	98132879	T	C	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.T182C:p.L61S,	.	.	440	1076	5	1	0	7	0.00324224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.447	B	0.128	B	0.195	N	1.000	N	1.255	L	7.21	T	-0.884	T	0.001	T	0.555	0.581	7.135	3.57	1.481	2.533	10.101	0.129	0.00213903153302	0.0002	.	0.0002	0	8.72e-05	0	0	0.0004	0	0.0001	7.68e-05	2	26028	rs374301921	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	2.989e-05	0.0003	0.0005	0	0	0.0014	0.0002	0.0004	0.0001	0.0003	0.0003	0.0002	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	4.815e-05	0	0.0008	0.0003	0	0	0	0.0003	0.0014	0	0.048	0.40068	D	0.042	0.50226	D	0.447	0.36006	B	0.128	0.32786	B	0.195283	0.16740	N	0.440664	0.999953	0.19072	N	1.195	0.30194	L	7.21	0.00433	T	-4.18	0.75537	D	0.451	0.48872	-0.8839	0.49448	T	0.001	0.00408	T	10	0.05077949	0.04862	T	0.002139	0.03989	T	0.129	0.35316	.	.	0.389904358541	0.38601	0.2927559015561627	0.29188	0.380299228091	0.39395	0.236000180244	0.02442	T	0.008446	0.07757	T	-0.361617	0.04039	T	-0.451238	0.27561	T	0.105943620204926	0.12998	T	0.690631	0.30012	T	0.3050177	0.53351	0.32545573	0.58461	0.3050177	0.53351	0.32545573	0.58460	-6.408	0.49572	T	.	.	0.388	0.58913	A	.;.	.;.	2.687056	0.35067	19.80	0.98003586155743949	0.37498	0.22861	0.21887	N	AEFI	0.119934	0.23385	N	-0.395874126374815	0.25616	1.391831	-0.410365089986413	0.24693	1.353641	2.96292211136304E-4	0.06406	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	3.57	0.40014	2.210000	0.42455	.	.	0.430000	0.20916	0.029000	0.20367	0.000000	0.08366	0.012000	0.09680	0.0:0.0:0.0:1.0	10.101	0.41677	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	5824.98	84	chr3	98132879	.	T	C	5824.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.97;DP=2100;ExcessHet=0.0000;FS=1.102;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.53;MQRankSum=-2.886e+00;QD=13.52;ReadPosRankSum=0.316;SOR=0.820	GT:AD:DP:GQ:PL	0/0:95,0:95:99:0,120,1800	20	0	1	0
chr3	98133456	98133460	ACCCC	-	exonic	OR5H1	.	frameshift deletion	OR5H1:NM_001005338:exon1:c.759_763del:p.P254Sfs*14,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.704e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	611.64	118	chr3	98133455	.	GACCCC	G	611.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-8.970e-01;DP=1898;ExcessHet=0.3300;FS=172.190;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=1.86;ReadPosRankSum=0.427;SOR=7.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:115,0:115:99:.:.:0,120,1800	18	0	3	0
chr3	98133457	98133460	CCCC	-	exonic	OR5H1	.	frameshift deletion	OR5H1:NM_001005338:exon1:c.760_763del:p.P254Ffs*31,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0036	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	9.04e-05	0	0	5.047e-05	0	0	0.0002	0.0001	4.649e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3836.75	118	chr3	98133456	.	ACCCC	A,*	3836.75	.	AC=6,3;AF=0.143,0.071;AN=42;BaseQRankSum=-2.885e+00;DP=2067;ExcessHet=4.7172;FS=151.643;InbreedingCoeff=-0.2727;MLEAC=6,3;MLEAF=0.143,0.071;MQ=59.98;MQRankSum=0.00;QD=3.65;ReadPosRankSum=1.72;SOR=10.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,41,0:119:99:0|1:98133456_ACCCC_A:1202,0,3069,1437,3191,4628:98133456	12	0	6	0
chr3	98133456	98133460	ACCCC	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3836.75	118	chr3	98133456	.	ACCCC	A,*	3836.75	.	AC=6,3;AF=0.143,0.071;AN=42;BaseQRankSum=-2.885e+00;DP=2067;ExcessHet=4.7172;FS=151.643;InbreedingCoeff=-0.2727;MLEAC=6,3;MLEAF=0.143,0.071;MQ=59.98;MQRankSum=0.00;QD=3.65;ReadPosRankSum=1.72;SOR=10.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,41,0:119:99:0|1:98133456_ACCCC_A:1202,0,3069,1437,3191,4628:98133456	12	0	6	0
chr3	98133457	98133457	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C760G:p.P254A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.151	B	0.232	B	0.355	N	1.000	N	0.99	L	8.7	T	-0.977	T	0.000	T	0.282	-0.269	2.712	-0.991	0.162	-0.392	0.252	0.060	0.000569954661155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.329e-05	0.0018	6.384e-05	4.27e-05	0.0002	4.354e-05	3.971e-05	8.053e-05	5.462e-05	0.0002	0	3.884e-05	0	0	0.0002	6.21e-05	1.708e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.39334	T	0.034	0.52727	D	0.151	0.28027	B	0.232	0.38314	B	0.354555	0.13763	N	0.638540	1	0.08975	N	0.41	0.12415	N	8.7	0.00113	T	-2.42	0.53096	N	0.208	0.23125	-0.9765	0.35794	T	0.000	0.00114	T	10	0.06313068	0.08178	T	5.7E-4	0.00233	T	0.060	0.17295	0.376	0.38994	0.151104730317	0.14643	0.05160260000435715	0.05102	0.305303193982	0.32830	0.232944488525	0.02193	T	0.007444	0.06846	T	-0.267429	0.12046	T	-0.62192	0.11035	T	0.254086643457413	0.23055	T	0.806719	0.45571	T	0.06336548	0.13335	0.05555225	0.09765	0.06336548	0.13334	0.05555225	0.09764	-3.319	0.13984	T	.	.	0.103	0.18331	B	.;.	.;.	1.419986	0.18368	13.70	0.79297022959657282	0.12678	0.03061	0.07965	N	AEFI	0.062772	0.12088	N	-0.896657213234765	0.10921	0.5243543	-0.985832915716643	0.10103	0.5067427	1.9149263690292E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	-0.991	0.09712	-0.193000	0.09572	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.3369:0.2611:0.1662:0.2358	0.252	0.00192	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3846	411.68	118	chr3	98133457	.	C	G,*	411.68	.	AC=1,9;AF=0.038,0.346;AN=26;BaseQRankSum=-3.267e+00;DP=1955;ExcessHet=6.1002;FS=151.643;InbreedingCoeff=-0.5000;MLEAC=1,12;MLEAF=0.038,0.462;MQ=60.00;MQRankSum=0.00;QD=0.36;ReadPosRankSum=2.36;SOR=10.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:78,0,41:119:99:0|1:98133456_ACCCC_A:1202,1437,4628,0,3191,3069:98133456	3	0	1	8
chr3	98133457	98133457	C	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3846	411.68	118	chr3	98133457	.	C	G,*	411.68	.	AC=1,9;AF=0.038,0.346;AN=26;BaseQRankSum=-3.267e+00;DP=1955;ExcessHet=6.1002;FS=151.643;InbreedingCoeff=-0.5000;MLEAC=1,12;MLEAF=0.038,0.462;MQ=60.00;MQRankSum=0.00;QD=0.36;ReadPosRankSum=2.36;SOR=10.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:78,0,41:119:99:0|1:98133456_ACCCC_A:1202,1437,4628,0,3191,3069:98133456	3	0	1	8
chr3	98133459	98133459	C	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3846	378.19	118	chr3	98133459	.	C	G,*	378.19	.	AC=1,9;AF=0.038,0.346;AN=26;BaseQRankSum=-1.973e+00;DP=1992;ExcessHet=6.1002;FS=147.603;InbreedingCoeff=-0.5184;MLEAC=1,12;MLEAF=0.038,0.462;MQ=60.00;MQRankSum=0.00;QD=0.33;ReadPosRankSum=2.40;SOR=10.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:78,0,41:119:99:0|1:98133456_ACCCC_A:1202,1437,4628,0,3191,3069:98133456	3	0	1	8
chr3	98133460	98133460	-	GGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGG:p.L255Rfs*16,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,40,0,0,0,0:117:99:0|1:98133456_ACCCC_A:1189,0,3039,1421,3158,4578,1421,3158,4578,4578,1421,3158,4578,4578,4578,1421,3158,4578,4578,4578,4578:98133456	0	0	5	10
chr3	98133460	98133460	-	GGGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGGG:p.L255Rfs*33,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,40,0,0,0,0:117:99:0|1:98133456_ACCCC_A:1189,0,3039,1421,3158,4578,1421,3158,4578,4578,1421,3158,4578,4578,4578,1421,3158,4578,4578,4578,4578:98133456	0	0	5	10
chr3	98133460	98133460	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C763G:p.L255V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	1.0	D	0.999	D	0.001	D	1.000	N	1.325	L	8.74	T	-0.730	T	0.001	T	0.254	0.426	6.315	3.57	1.818	-0.974	8.167	0.060	0.00117854807808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.962e-05	0.0018	9.935e-05	5.982e-05	0.0002	6.745e-05	6.308e-05	8.053e-05	7.118e-05	0.0002	0	0	2.539e-05	0	0	9.229e-05	6.835e-05	3.522e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.161	0.31326	T	1.0	0.90584	D	0.999	0.92359	D	0.000719	0.42254	D	0.000000	1	0.08975	N	1.055	0.26876	L	8.74	0.00084	T	-2.84	0.59873	D	0.082	0.05799	-0.7301	0.58959	T	0.001	0.00287	T	10	0.22429666	0.39230	T	0.001179	0.01509	T	0.060	0.17295	0.371	0.38176	0.298745278005	0.29478	0.048044440119727576	0.04747	0.654731206335	0.58542	0.272874593735	0.06519	T	0.007249	0.06665	T	-0.259952	0.12906	T	-0.61118	0.11889	T	0.845799565315247	0.49807	D	0.80082	0.44648	T	0.1752088	0.38366	0.14435342	0.34275	0.1752088	0.38366	0.14435342	0.34274	-3.447	0.15697	T	.	.	0.132	0.28492	B	.;.	.;.	2.299242	0.29417	18.12	0.98981953560601799	0.49760	0.02367	0.06739	N	AEFI	0.059639	0.11279	N	-0.196966090587521	0.33261	1.884947	-0.353468082146493	0.26402	1.458076	1.0108118885271E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	3.57	0.40014	-0.690000	0.05240	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.078000	0.17132	0.2395:0.7605:0.0:0.0	8.167	0.30391	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,40,0,0,0,0:117:99:0|1:98133456_ACCCC_A:1189,0,3039,1421,3158,4578,1421,3158,4578,4578,1421,3158,4578,4578,4578,1421,3158,4578,4578,4578,4578:98133456	0	0	5	10
chr3	98133460	98133460	-	GTGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGTGG:p.L255Rfs*16,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,40,0,0,0,0:117:99:0|1:98133456_ACCCC_A:1189,0,3039,1421,3158,4578,1421,3158,4578,4578,1421,3158,4578,4578,4578,1421,3158,4578,4578,4578,4578:98133456	0	0	5	10
chr3	98133460	98133460	-	GGTGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGTGG:p.L255Rfs*33,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,40,0,0,0,0:117:99:0|1:98133456_ACCCC_A:1189,0,3039,1421,3158,4578,1421,3158,4578,4578,1421,3158,4578,4578,4578,1421,3158,4578,4578,4578,4578:98133456	0	0	5	10
chr3	98133463	98133463	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C766G:p.L256V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.005	B	0.053	B	0.261	N	1.000	N	1.715	L	0.99	T	-1.004	T	0.079	T	0.179	-0.795	0.690	0.621	0.219	-0.776	1.131	0.026	0.00126498386421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.068	0.44106	T	0.005	0.12996	B	0.053	0.25678	B	0.261193	0.15311	N	0.542116	1	0.08975	N	0.915	0.23335	L	0.99	0.41750	T	-2.16	0.48850	N	0.126	0.11912	-1.0038	0.28814	T	0.079	0.31466	T	10	0.049896806	0.04644	T	0.001265	0.01708	T	0.026	0.05648	0.296	0.26041	0.128392430309	0.12331	0.03494044702375308	0.03441	0.301753269651	0.32506	0.278658390045	0.07306	T	0.006	0.05345	T	-0.262441	0.12617	T	-0.614755	0.11603	T	0.125886231660843	0.14996	T	0.469153	0.13854	T	0.1777599	0.38759	0.102822304	0.24655	0.1777599	0.38758	0.102822304	0.24654	-4.104	0.25349	T	.	.	0.129	0.31151	B	.;.	.;.	1.199857	0.15918	12.19	0.77165719573394564	0.11763	0.00876	0.03464	N	AEFI	0.031298	0.03314	N	-1.1071760963484	0.06514	0.3000934	-1.14194788532371	0.06913	0.3344078	1.71832632022719E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	0.621	0.16817	-1.594000	0.02198	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.108000	0.18652	0.1779:0.4335:0.1738:0.2148	1.131	0.01639	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	2747.51	121	chr3	98133463	.	C	G,T	2747.51	.	AC=6,1;AF=0.143,0.024;AN=42;BaseQRankSum=-4.760e+00;DP=1685;ExcessHet=2.5830;FS=151.643;InbreedingCoeff=-0.1887;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=3.50;ReadPosRankSum=2.02;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,40,0:119:99:0|1:98133456_ACCCC_A:1183,0,3035,1421,3154,4575:98133456	14	0	6	0
chr3	98133463	98133463	C	T	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C766T:p.L256F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.026	B	0.119	B	0.261	N	1.000	N	0.865	L	0.99	T	-1.030	T	0.062	T	0.114	-1.253	0.050	0.621	0.219	-0.776	1.131	0.024	0.00115650910057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.841e-07	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	0.12305	T	0.41	0.14544	T	0.026	0.19406	B	0.119	0.32162	B	0.261193	0.15311	N	0.542116	1	0.08975	N	-0.23	0.03940	N	0.99	0.41750	T	-1.08	0.28084	N	0.105	0.08925	-1.0300	0.20454	T	0.062	0.25708	T	10	0.04290554	0.03085	T	0.001157	0.01459	T	0.024	0.04979	0.375	0.38830	0.0762999501168	0.06990	0.0487108067063726	0.04814	0.321367064236	0.34338	0.290525436401	0.08999	T	0.00438	0.03788	T	-0.322622	0.06685	T	-0.701201	0.05761	T	0.424735397100449	0.29866	T	0.652935	0.26315	T	0.046653233	0.07844	0.04369084	0.05494	0.046653233	0.07844	0.04369084	0.05494	-3.928	0.22723	T	.	.	0.131	0.34004	B	.;.	.;.	0.632429	0.10007	6.762	0.62397499402890433	0.06952	0.02895	0.07685	N	AEFI	0.070478	0.13993	N	-1.21870644392077	0.04729	0.2140418	-1.22146664885687	0.05566	0.2655665	1.71832632022719E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	0.621	0.16817	-1.594000	0.02198	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.108000	0.18652	0.1779:0.4335:0.1738:0.2148	1.131	0.01639	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	2747.51	121	chr3	98133463	.	C	G,T	2747.51	.	AC=6,1;AF=0.143,0.024;AN=42;BaseQRankSum=-4.760e+00;DP=1685;ExcessHet=2.5830;FS=151.643;InbreedingCoeff=-0.1887;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=3.50;ReadPosRankSum=2.02;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,40,0:119:99:0|1:98133456_ACCCC_A:1183,0,3035,1421,3154,4575:98133456	14	0	6	0
chr3	98169297	98169297	T	C	exonic	OR5H15	.	nonsynonymous SNV	OR5H15:NM_001005515:exon1:c.T598C:p.F200L,	.	.	433	1081	7	1	0	9	0.00414556	.	.	2827588	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.28	T	0.329	B	0.327	B	0.000	D	1.000	N	0.875	L	8.84	T	-1.052	T	0.000	T	0.24	0.906	8.687	2.48	1.138	0.314	8.498	0.041	.	0.0055	0.00339457	0.0069	0.0010	0.0012	0	0.0176	0.0103	0.0045	0.0006	0.0060801	940	154602	rs147066998	0.0072	0.0072	0.0075	0.0069	0.0079	0.0071	0.0070	0.0077	0.0077	0.0011	0.0011	0.0053	2.529e-05	0.0191	0.0030	0.0079	0.0070	0.0007	0.0058	0.0058	0.0055	0.0061	0.0083	0.0055	0.0054	0.0078	0.0076	0.0014	0	0.0016	0.0052	0	0.0189	0.0068	0.0083	0.0066	0.0002	.	.	.	.	.	.	0.329	0.33227	B	0.327	0.41976	B	0.000182	0.48115	D	0.000000	1	0.08975	N	0.97	0.24054	L	.	.	.	.	.	.	.	.	-1.0522	0.13790	T	0.000	0.00114	T	10	0.004107207	0.00081	T	.	.	.	.	.	0.456	0.52102	.	.	0.09222979570973336	0.09155	.	.	0.280691593885	0.07588	T	0.012683	0.11106	T	-0.589348	0.00169	T	-0.612511	0.11783	T	0.045165754101796	0.04632	T	0.590841	0.21745	T	0.49135414	0.66583	0.34380898	0.60087	0.49135414	0.66584	0.34380898	0.60087	-4.331	0.28610	T	.	.	0.574	0.71619	P	.;.	.;.	2.170966	0.27664	17.54	0.72736061803663132	0.10077	0.02954	0.07786	N	AEI	0.044564	0.07185	N	-0.791147068565641	0.13539	0.6677436	-0.886533680681822	0.12412	0.6383249	3.82598782376753E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.48	2.48	0.29194	0.445000	0.21392	.	.	0.585000	0.30472	0.000000	0.06391	0.004000	0.18990	0.068000	0.16518	0.0:0.0:0.0:1.0	8.498	0.32302	768	0.49510	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2626.98	109	chr3	98169297	.	T	C	2626.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.236;DP=2115;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=52.81;MQRankSum=1.74;QD=15.27;ReadPosRankSum=0.365;SOR=0.719	GT:AD:DP:GQ:PL	0/0:108,0:108:99:0,120,1800	20	0	1	0
chr3	98283014	98283014	A	G	exonic	OR5H2	.	nonsynonymous SNV	OR5H2:NM_001005482:exon1:c.A127G:p.T43A,	.	.	419	1042	58	3	0	64	0.0297952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.001	U	1.000	N	1.675	L	6.94	T	-0.921	T	0.003	T	0.241	1.300	10.26	3.2	1.458	2.045	9.723	0.085	.	0.0065	0.00539137	0.0065	0.0017	0.0061	0.0001	0.0008	0.0094	0.0099	0.0037	0.0063518	982	154602	rs138288586	0.0078	0.0078	0.0076	0.0080	0.0499	0.0077	0.0076	0.0452	0.0434	0.0020	0.0086	0.0137	7.56e-05	0.0012	0.0499	0.0083	0.0099	0.0047	0.0065	0.0065	0.0068	0.0062	0.0109	0.0062	0.0060	0.0095	0.0090	0.0021	0.0033	0.0109	0.0130	0.0004	0.0010	0.0442	0.0087	0.0175	0.0060	0.005	0.63226	D	0.016	0.60972	D	1.0	0.90584	D	0.998	0.88582	D	0.000995	0.40743	U	0.000000	1	0.08975	N	1.3	0.32576	L	6.94	0.01376	T	-4.77	0.80851	D	0.348	0.38950	-0.9212	0.45390	T	0.003	0.00864	T	10	0.004910052	0.00105	T	.	.	.	0.085	0.24743	.	.	0.483082108137	0.47938	0.1894909077158087	0.18867	0.128535529483	0.14494	0.273199915886	0.06563	T	0.010184	0.09221	T	-0.537174	0.00348	T	-0.531416	0.19145	T	0.0974352649828437	0.12072	T	0.665633	0.27494	T	0.677092	0.76812	0.5844975	0.75907	0.677092	0.76814	0.5844975	0.75908	-6.724	0.51991	T	.	.	0.144	0.31832	B	.;.	.;.	3.611633	0.51069	23.0	0.98460605800049295	0.41734	0.17022	0.19654	N	AEFDGI	0.077694	0.15659	N	-0.0972181323188493	0.37514	2.183617	-0.331202449396319	0.27097	1.501209	0.00147991741085891	0.08567	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.2	3.2	0.35826	5.548000	0.66963	.	.	0.665000	0.62972	0.908000	0.31627	0.670000	0.26062	0.013000	0.09966	1.0:0.0:0.0:0.0	9.723	0.39484	756	0.51065	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2521.98	38	chr3	98283014	.	A	G	2521.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.260;DP=1556;ExcessHet=0.0000;FS=0.467;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.29;ReadPosRankSum=0.122;SOR=0.683	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1292	20	0	1	0
chr3	98354008	98354008	A	C	exonic	OR5K4	.	nonsynonymous SNV	OR5K4:NM_001005517:exon1:c.A155C:p.E52A,	.	.	429	1084	8	1	0	10	0.00459137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.403	B	0.371	B	0.006	U	1.000	N	1.61	L	5.31	T	-1.001	T	0.007	T	0.35	1.444	10.77	4.77	2.115	2.740	12.544	0.131	0.00140944196157	0.0005	0.000599042	0.0009	0.0002	0.0010	0	0	0.0013	0	0.0002	0.0008085	125	154602	rs78965394	0.0006	0.0006	0.0005	0.0006	0.0104	0.0005	0.0005	0.0083	0.0075	0.0002	0.0011	0.0035	0	0	0.0104	0.0005	0.0012	0.0002	0.0007	0.0008	0.0007	0.0008	0.0023	0.0006	0.0006	0.0017	0.0015	0.0002	0	0.0023	0.0029	0	0	0.0068	0.0007	0.0033	0.0004	0.002	0.72154	D	0.003	0.76473	D	0.403	0.34918	B	0.371	0.43568	B	0.005811	0.32491	U	0.000000	0.999999	0.08975	N	1.36	0.34107	L	5.31	0.01086	T	-4.45	0.77717	D	0.265	0.30004	-1.0006	0.29746	T	0.007	0.02598	T	10	0.00875169	0.00198	T	0.001409	0.02088	T	0.131	0.35738	.	.	0.197625483188	0.19356	0.26452313262500454	0.26365	0.0122577980049	0.01168	0.243384540081	0.03103	T	0.010821	0.09727	T	-0.45709	0.01025	T	-0.496831	0.22677	T	0.0866761713187232	0.10819	T	0.445455	0.12454	T	0.3980649	0.60598	0.36761248	0.62067	0.3980649	0.60599	0.36761248	0.62067	-6.311	0.48809	T	.	.	0.402	0.59694	A	.	.	2.566532	0.33247	19.28	0.99068172431392332	0.51645	0.32527	0.24607	N	AEFI	0.158955	0.28468	N	-0.300306574426165	0.29137	1.613155	-0.372714881764971	0.25814	1.421915	0.698546500615225	0.22669	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.77	4.77	0.60425	2.440000	0.44513	.	.	0.681000	0.82415	0.007000	0.17678	0.987000	0.30940	0.001000	0.02609	1.0:0.0:0.0:0.0	12.544	0.55536	773	0.48803	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1106.98	33	chr3	98354008	.	A	C	1106.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.023e+00;DP=819;ExcessHet=0.0000;FS=1.402;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.45;ReadPosRankSum=-7.130e-01;SOR=0.854	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1241	20	0	1	0
chr3	98354118	98354118	G	A	exonic	OR5K4	.	nonsynonymous SNV	OR5K4:NM_001005517:exon1:c.G265A:p.D89N,	.	.	431	1027	64	0	0	64	0.0302172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.09	B	0.076	B	0.004	U	1.000	N	0.06	N	4.52	T	-0.894	T	0.003	T	0.1	-1.841	0.009	2.95	0.701	-0.461	4.426	0.014	0.00145736637064	0.0068	0.00459265	0.0069	0.0011	0.0054	0	0.0018	0.0089	0.0066	0.0095	0.0064359	995	154602	rs111341876	0.0067	0.0067	0.0064	0.0071	0.0553	0.0066	0.0066	0.0503	0.0484	0.0020	0.0067	0.0172	2.519e-05	0.0010	0.0553	0.0065	0.0082	0.0104	0.0056	0.0056	0.0057	0.0055	0.0095	0.0053	0.0052	0.0074	0.0066	0.0013	0.0252	0.0080	0.0185	0.0002	0.0008	0.0816	0.0072	0.0123	0.0095	0.638	0.05031	T	0.884	0.03187	T	0.09	0.25173	B	0.076	0.28435	B	0.004471	0.33710	U	0.000000	1	0.08975	N	0.17	0.09006	N	4.52	0.01997	T	0.6	0.02518	N	0.08	0.05542	-0.8945	0.48530	T	0.003	0.00961	T	10	0.006099701	0.00137	T	0.001457	0.02215	T	0.014	0.01968	.	.	0.101711395817	0.09552	0.047128418449297244	0.04655	0.00843398898925	0.00763	0.235067754984	0.02364	T	0.001693	0.01120	T	-0.695655	0.00039	T	-0.764218	0.02963	T	0.00267305383504619	0.00028	T	0.180682	0.01803	T	0.06302451	0.13228	0.047745172	0.06944	0.06302451	0.13227	0.047745172	0.06944	-2.585	0.06390	T	.	.	0.087	0.11076	B	.	.	0.718538	0.10876	7.550	0.4185265044537046	0.03046	0.00583	0.02625	N	AEFI	0.043423	0.06864	N	-1.06198692806369	0.07353	0.3413527	-1.00721648901428	0.09626	0.4799791	4.49553108117102E-6	0.01202	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.77	2.95	0.33285	-0.281000	0.08489	.	.	-0.235000	0.07621	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.1845:0.0:0.6362:0.1794	4.426	0.10929	773	0.48803	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2810.98	33	chr3	98354118	.	G	A	2810.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=967;ExcessHet=0.0000;FS=3.886;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=0.351;SOR=0.953	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1241	20	0	1	0
chr3	98354353	98354353	C	T	exonic	OR5K4	.	nonsynonymous SNV	OR5K4:NM_001005517:exon1:c.C500T:p.T167I,	.	.	432	1082	8	0	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.091	B	0.158	B	0.083	U	1.000	N	2.32	M	8.73	T	-1.026	T	0.001	T	0.331	0.414	6.249	3.14	0.761	0.214	8.581	0.065	0.00116257791848	.	0.000798722	0.0006	0	0.0003	0	0	0.0002	0	0.0035	0.0005627	87	154602	rs200319864	0.0003	0.0003	0.0003	0.0004	0.0033	0.0003	0.0003	0.0030	0.0029	0	0.0001	0	0	0	0.0024	0.0002	0.0005	0.0033	0.0002	0.0002	0.0001	0.0003	0.0035	0.0002	0.0001	0.0022	0.0018	0	0	0	0	0.0002	0	0	0.0002	0.0009	0.0035	0.027	0.46513	D	0.093	0.39799	T	0.091	0.25247	B	0.158	0.34617	B	0.082869	0.20785	U	0.245457	1	0.08975	N	2.005	0.54552	M	8.73	0.00091	T	-4.72	0.79998	D	0.237	0.26717	-1.0255	0.21919	T	0.001	0.00255	T	10	0.011091977	0.00244	T	0.001163	0.01459	T	0.065	0.18881	.	.	0.146414634003	0.14194	0.11858389257733806	0.11785	0.0103282779288	0.00949	0.212327748537	0.00914	T	0.008401	0.07715	T	-0.542561	0.00323	T	-0.554864	0.16861	T	0.0866907032853627	0.10821	T	0.727127	0.34152	T	0.23283513	0.46078	0.3193494	0.57897	0.23283513	0.46078	0.3193494	0.57896	-6.088	0.47010	T	.	.	0.188	0.40457	B	.	.	1.762983	0.22423	15.61	0.99344118048459207	0.60291	0.11086	0.16398	N	AEFI	0.088665	0.17974	N	-0.42138307726111	0.24721	1.336837	-0.451914550562452	0.23495	1.281552	6.55504801669791E-6	0.01202	0.487112	0.14033	0	0.55458	0.17659	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.97	3.14	0.35196	0.251000	0.18025	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.236000	0.22896	0.0:0.7598:0.1543:0.0859	8.581	0.32788	773	0.48803	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2341.98	33	chr3	98354353	.	C	T	2341.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.250e-01;DP=1025;ExcessHet=0.0000;FS=3.386;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=-1.015e+00;SOR=0.657	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1241	20	0	1	0
chr3	98585475	98585475	G	C	exonic	CPOX	.	nonsynonymous SNV	CPOX:NM_000097:exon5:c.C1138G:p.Q380E,	Coproporphyria, Autosomal dominant;Harderoporphyria, Autosomal dominant	.	0	225	1	0	0	1	0.00221729	.	.	889804	Hereditary_coproporphyria|not_provided	MONDO:MONDO:0007369,MedGen:C0162531,OMIM:121300,Orphanet:79273|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.000	D	0.854	N	-0.89	N	-3.06	D	-0.659	T	0.364	T	0.112	0.147	4.792	5.03	1.484	3.634	10.132	0.242	0.0106727827972	.	.	6.642e-05	0	0	0.0003	0	7.565e-05	0	0	5.17e-05	8	154602	rs201231166	4.584e-05	4.583e-05	4.901e-05	4.263e-05	0.0005	3.662e-05	3.348e-05	0.0003	0.0003	0	2.236e-05	0.0005	0.0005	0	0.0002	2.249e-05	3.313e-05	5.797e-05	3.942e-05	3.937e-05	1.285e-05	6.719e-05	0.0004	1.715e-05	1.129e-05	6.84e-05	2.862e-05	0	0	0	0	0.0004	0	0	5.881e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.000004	0.62929	D	0.103834	0.854182	0.28452	N	-0.71	0.01811	N	-3.06	0.92457	D	0.31	0.04022	N	0.106	0.09066	-0.6593	0.62307	T	0.364	0.72522	T	10	0.052722216	0.05350	T	0.010673	0.27473	T	0.242	0.54781	0.399	0.42753	0.887633965512	0.88653	0.26210163392497643	0.26123	0.567486449142	0.53010	0.291867256165	0.09194	T	0.108485	0.42156	T	-0.29288	0.09349	T	-0.349611	0.39250	T	0.0159110594024215	0.00376	T	0.845215	0.52386	T	0.18898988	0.40421	0.123694345	0.29825	0.18898988	0.40421	0.123694345	0.29824	-1.937	0.02952	T	0.06624584877900486	0.02244	0.055	0.00382	B	.;.	.;.	1.572756	0.20133	14.60	0.83484039459108028	0.14751	0.86673	0.46004	D	ALL	0.289179	0.40089	N	-0.480809672790579	0.22711	1.214564	-0.186420702594028	0.32034	1.818615	1.0	0.98316	0.706548	0.73137	0	0.581341	0.33841	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	5.9	5.03	0.67015	3.707000	0.54568	.	.	-0.107000	0.15377	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.1481:0.6983:0.1536	10.132	0.41857	487	0.76954	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3106.98	33	chr3	98585475	.	G	C	3106.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.577e+00;DP=944;ExcessHet=0.0000;FS=5.097;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=0.505;SOR=0.994	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr3	98788435	98788435	A	G	exonic	ST3GAL6	.	nonsynonymous SNV	ST3GAL6:NM_001271148:exon5:c.A296G:p.H99R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.0	B	0.001	B	0.001	N	1.000	N	0.56	N	1.69	T	-1.030	T	0.067	T	0.182	2.181	13.25	3.69	0.992	0.538	8.136	0.062	0.00349048039997	0.0002	.	1.673e-05	0	0	0	0	3.02e-05	0	0	1.29e-05	2	154602	rs375615700	7.55e-06	8.209e-06	5.462e-06	9.66e-06	0.0002	4.05e-06	2.96e-06	3.81e-06	2.76e-06	0	0	0	0	0	0.0002	8.103e-06	1.662e-05	0	1.315e-05	1.313e-05	0	2.692e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.861	0.53900	T	0.373	0.59159	T	0.0	0.02946	B	0.001	0.04355	B	0.000884	0.41231	N	0.168221	0.781605	0.29326	N	0.16	0.08945	N	1.69	0.47130	T	-1.5	0.36586	N	0.221	0.24758	-1.0300	0.20454	T	0.067	0.27674	T	10	0.10518831	0.27235	T	0.00349	0.07908	T	0.062	0.17934	.	.	0.415947407303	0.41207	0.5784126833651109	0.57770	0.247577077221	0.27312	0.331316322088	0.15133	T	0.041733	0.25955	T	-0.231811	0.16409	T	-0.555271	0.16824	T	0.0573847692693285	0.06750	T	0.744825	0.56255	T	0.116549544	0.27489	0.07259991	0.15682	0.116549544	0.27489	0.07259991	0.15682	-3.369	0.14642	T	.	.	0.072	0.04396	B	.;.;.;.;.;.	.;.;.;.;.;.	2.053833	0.26112	17.00	0.9697151249090844	0.31819	0.66369	0.33054	D	AEFBI	0.403121	0.47694	N	-0.46221750468933	0.23326	1.251919	-0.275621410704418	0.28904	1.615177	0.999981337393734	0.51787	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.677038	0.66255	0	.	.	4.84	3.69	0.41483	0.848000	0.27362	.	.	0.756000	0.94297	1.000000	0.71638	0.998000	0.33993	1.000000	0.97212	0.9019:0.0:0.0981:0.0	8.136	0.30216	778	0.48011	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1174.98	36	chr3	98788435	.	A	G	1174.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.020e+00;DP=834;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.19;ReadPosRankSum=1.52;SOR=0.727	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1166	20	0	1	0
chr3	98817819	98817819	C	T	exonic	DCBLD2	.	nonsynonymous SNV	DCBLD2:NM_080927:exon9:c.G1162A:p.D388N,	.	.	432	1086	4	0	0	4	0.00183824	.	.	3213343	DCBLD2-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.74	T	1.0	D	0.999	D	0.000	D	1.000	D	0.81	L	-5.32	D	-0.936	T	0.150	T	0.268	2.943	15.81	5.72	2.865	7.008	17.733	0.112	0.080029994204	0.0010	0.00159744	0.0015	0.0001	0.0019	0	0.0011	0.0023	0.0011	0	0.0014748	228	154602	rs149988957	0.0013	0.0013	0.0012	0.0013	0.0017	0.0012	0.0012	0.0014	0.0014	0.0002	0.0017	0.0006	0	0.0008	0.0014	0.0015	0.0010	4.638e-05	0.0014	0.0014	0.0015	0.0014	0.0031	0.0013	0.0012	0.0024	0.0022	0.0002	0	0.0031	0.0003	0	0.0012	0	0.0021	0.0019	0.0002	0.498	0.09836	T	0.283	0.21545	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.26	0.31868	L	-5.32	0.98988	D	-1.39	0.35991	N	0.873	0.87049	-0.9362	0.43211	T	0.150	0.47681	T	10	0.058354497	0.06847	T	0.08003	0.73369	D	0.645	0.86536	.	.	0.972282103216	0.97198	0.796986005296395	0.79651	0.222960362883	0.24822	0.46647760272	0.34198	T	0.323633	0.69453	T	-0.171669	0.24982	T	-0.0252251	0.68684	D	0.0389043042269048	0.03493	T	0.868713	0.57175	D	0.2988864	0.52805	0.17662401	0.40209	0.2988864	0.52805	0.17662401	0.40209	-3.849	0.21538	T	.	.	0.079	0.09675	B	.;.	.;.	3.897991	0.56761	23.8	0.99560814760174099	0.71769	0.92252	0.55286	D	ALL	0.829174	0.74813	D	0.389832072917966	0.60871	4.280905	0.518896673247016	0.69263	5.33544	1.0	0.98316	0.743674	0.98306	0	0.688826	0.66785	0	0.630245	0.45026	0	0.723	0.93126	0	.	.	5.72	5.72	0.89380	7.092000	0.76589	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	17.733	0.88292	808	0.43318	Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1137.98	42	chr3	98817819	.	C	T	1137.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.151;DP=802;ExcessHet=0.0000;FS=1.943;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.17;ReadPosRankSum=0.457;SOR=0.480	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1207	20	0	1	0
chr3	98849544	98849544	T	C	exonic	DCBLD2	.	nonsynonymous SNV	DCBLD2:NM_080927:exon3:c.A488G:p.N163S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.101	B	0.043	B	0.000	N	0.867	N	1.87	L	1.05	T	-1.014	T	0.090	T	0.265	2.036	12.76	3.27	0.434	2.789	7.764	0.053	0.0074994288734	0.0003	.	0.0002	0.0007	0	0.0001	0	0	0	0.0009	0.0001488	23	154602	rs201626100	8.005e-05	8.003e-05	5.037e-05	0.0001	0.0007	6.802e-05	6.356e-05	0.0006	0.0005	0.0004	2.236e-05	0	0.0002	0	0	1.799e-05	0.0001	0.0007	0.0002	0.0002	0.0002	0.0003	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	6.533e-05	0	0	0	0	0	0	0.0004	0.282	0.28772	T	0.086	0.40909	T	0.013	0.25775	B	0.018	0.24256	B	0.000107	0.50451	N	0.230056	0.867316	0.28262	N	1.87	0.49600	L	1.05	0.39990	T	-2.46	0.67477	N	0.44	0.47857	-1.0136	0.25784	T	0.090	0.34491	T	10	0.058725595	0.06948	T	0.007499	0.19899	T	0.053	0.14996	.	.	0.312608672186	0.30878	0.4216157951341592	0.42077	0.0974575988704	0.11007	0.421861767769	0.28092	T	0.006754	0.26303	T	-0.42937	0.01495	T	-0.445884	0.28153	T	0.0536794854776853	0.06135	T	0.738626	0.36203	T	0.07119863	0.15745	0.06801984	0.14149	0.07119863	0.15744	0.06801984	0.14148	-5.744	0.44198	T	.	.	0.071	0.28550	B	.;.;.	.;.;.	2.339192	0.29972	18.29	0.98132154920890025	0.38530	0.63818	0.32208	D	AEFBCI	0.167633	0.29432	N	-0.207047705448752	0.32843	1.856832	-0.0772665717971298	0.36333	2.113035	0.99776236288938	0.36002	0.740787	0.97801	0	0.696367	0.67918	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.62	3.27	0.36580	3.104000	0.49998	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1762:0.0:0.8238	7.764	0.28135	779	0.47767	CUB domain|CUB domain|CUB domain|CUB domain;.;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1027.98	78	chr3	98849544	.	T	C	1027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.493e+00;DP=771;ExcessHet=0.0000;FS=6.282;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=-1.123e+00;SOR=0.279	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1125	20	0	1	0
chr3	98901130	98901130	G	C	exonic	DCBLD2	.	nonsynonymous SNV	DCBLD2:NM_080927:exon1:c.C197G:p.A66G,	.	.	373	1147	2	0	0	2	0.00087108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.002	B	0.002	B	0.006	N	0.832	N	0.345	N	-2.7	D	-0.658	T	0.348	T	0.099	3.327	17.19	2.21	0.587	1.410	7.921	0.190	0.0342321694787	0.0020	0.00279553	0.0013	0.0050	0	0	0	0.0018	0	0	0.0005304	82	154602	rs202016309	0.0009	0.0008	0.0009	0.0008	0.0084	0.0008	0.0008	0.0076	0.0073	0.0084	0.0021	0.0083	0	0.0010	0.0032	0.0004	0.0026	1.263e-05	0.0036	0.0036	0.0036	0.0035	0.0096	0.0033	0.0032	0.0088	0.0085	0.0096	0	0.0039	0.0121	0	0.0008	0	0.0004	0.0028	0	0.487	0.11478	T	0.228	0.25438	T	0.0	0.09854	B	0.001	0.06944	B	0.006171	0.32222	N	0.287002	0.831611	0.28752	N	0.805	0.20218	L	-2.7	0.90509	D	-0.87	0.23590	N	0.219	0.36779	-0.6585	0.62342	T	0.348	0.71249	T	10	0.0072111487	0.00164	T	0.034232	0.55532	D	0.190	0.46781	.	.	0.798341152803	0.79646	0.565463091107539	0.56473	0.213371676131	0.23852	0.518393456936	0.41400	T	0.002576	0.01964	T	-0.397806	0.02393	T	-0.338647	0.40496	T	0.0256572481901264	0.01359	T	0.60284	0.22604	T	0.07303424	0.16292	0.0696754	0.14711	0.07303424	0.16292	0.0696754	0.14710	-5.321	0.40464	T	.	.	0.086	0.14062	B	.;.	.;.	3.022234	0.40455	21.2	0.99595806326443526	0.73866	0.61042	0.31369	D	ALL	0.097588	0.19680	N	-0.546318801668653	0.20599	1.087102	-0.405470259331075	0.24836	1.36229	0.999999999982617	0.74766	0.441713	0.08003	0	0.218748	0.04544	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.15	2.21	0.27042	1.427000	0.34489	.	.	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.2564:0.7436:0.0	7.921	0.29010	822	0.40702	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	565.98	33	chr3	98901130	.	G	C	565.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.130e-01;DP=742;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=-5.500e-02;SOR=0.545	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1262	20	0	1	0
chr3	99790960	99790960	T	C	exonic	COL8A1	.	nonsynonymous SNV	COL8A1:NM_020351:exon3:c.T278C:p.I93T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.002	B	0.007	B	0.626	N	0.999	N	0.55	N	-2.79	D	-0.614	T	0.561	D	0.252	3.430	17.60	5.86	2.241	5.505	14.197	0.239	0.0464175628527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.534e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.024	0.56640	D	0.002	0.09854	B	0.007	0.12992	B	0.626423	0.05786	N	1.175870	0.998827	0.21877	N	1.5	0.37844	L	-2.79	0.91019	D	-4.27	0.76254	D	0.444	0.48227	-0.6140	0.64238	T	0.561	0.84031	D	10	0.18345827	0.33673	T	0.046418	0.62447	D	0.239	0.54358	0.357	0.35897	0.924347348687	0.92358	0.366193068856577	0.36533	0.285142599056	0.30925	0.492204546928	0.37745	T	0.095194	0.53627	T	0.0488784	0.58199	T	-0.167566	0.57666	T	0.802636981010437	0.46533	D	0.765923	0.40508	T	0.12284405	0.28857	0.0740384	0.16153	0.12284405	0.28857	0.0740384	0.16153	-4.304	0.28232	T	.	.	0.398	0.59970	A	.;.;.;.	.;.;.;.	3.398026	0.47076	22.4	0.99758335663458786	0.84851	0.91648	0.53968	D	AEBCI	0.380408	0.46306	N	-0.289187463698073	0.29565	1.640657	-0.0947472757979899	0.35606	2.062034	0.99999992535184	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.573888	0.23631	0	0.711	0.71501	0	.	.	5.86	5.86	0.93936	5.505000	0.66698	5.012000	0.46677	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	14.197	0.65220	290	0.88477	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2	566.96	141	chr3	99790960	.	T	C	566.96	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-3.024e+00;DP=2798;ExcessHet=3.5521;FS=92.750;InbreedingCoeff=-0.2560;MLEAC=8;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=0.44;ReadPosRankSum=0.888;SOR=10.380	GT:AD:DP:GQ:PL	0/1:103,33:136:80:80,0,1774	12	0	8	1
chr3	99848704	99848704	C	A	exonic	FILIP1L	.	nonsynonymous SNV	FILIP1L:NM_001282794:exon2:c.G2252T:p.G751V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.993	D	0.941	D	0.002	N	1.000	D	1.5	L	2.19	T	-1.059	T	0.117	T	0.616	3.005	16.02	5.3	1.631	6.091	15.376	0.221	0.0210205961072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.112	0.39954	T	0.943	0.65571	P	0.69	0.67658	P	0.001684	0.38271	N	0.116799	1	0.81001	D	2.455	0.71248	M	2.19	0.24285	T	-2.03	0.50502	N	0.383	0.46649	-1.0588	0.12058	T	0.117	0.41209	T	10	0.300	0.47512	T	0.021021	0.43722	T	0.221	0.51721	0.065	0.00293	0.494031935134	0.49039	0.30678518422876133	0.30591	0.359354229553	0.37631	0.511215090752	0.40392	T	0.040282	0.25476	T	-0.0197967	0.48883	T	-0.266213	0.48203	T	0.912601945525207	0.56857	D	0.884911	0.61727	D	0.17421028	0.38213	0.19982028	0.43883	0.17421028	0.38212	0.19982028	0.43882	-5.734	0.47574	T	.	.	0.139	0.30291	B	.;.;.;.;.;.	.;.;.;.;.;.	3.483187	0.48648	22.6	0.99350665158735429	0.60574	0.96390	0.68904	D	AEFBCI	0.859441	0.77712	D	0.538439385329591	0.69380	5.348819	0.576081475447912	0.73230	5.936443	0.999999999999946	0.74766	0.706548	0.73137	0	0.624146	0.53433	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	6.17	5.3	0.74745	6.171000	0.71829	5.999000	0.52457	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.934:0.0:0.066	15.376	0.74319	444	0.79803	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1373.98	34	chr3	99848704	.	C	A	1373.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.30;DP=801;ExcessHet=0.0000;FS=2.689;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.31;ReadPosRankSum=0.129;SOR=1.019	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr3	99848748	99848748	A	C	exonic	FILIP1L	.	nonsynonymous SNV	FILIP1L:NM_001282794:exon2:c.T2208G:p.I736M	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.141	B	0.132	B	0.246	N	0.660	N	0.69	N	2.12	T	-1.019	T	0.043	T	0.189	0.653	7.501	2.3	0.554	1.161	7.582	0.019	0.00794815588635	.	.	1.656e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs756219024	1.915e-05	1.915e-05	1.77e-05	2.063e-05	0.0005	1.328e-05	1.144e-05	0.0001	7.541e-05	0	0	0	0	0	0.0005	1.888e-05	6.623e-05	0	1.315e-05	1.314e-05	0	2.691e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.002	0.72154	D	0.018	0.59732	D	0.087	0.27581	B	0.062	0.33005	B	0.245584	0.15618	N	0.576209	0.659611	0.33039	D	1.39	0.34934	L	2.12	0.25344	T	-0.63	0.19933	N	0.295	0.40164	-1.0194	0.23910	T	0.043	0.18368	T	10	0.08914074	0.15414	T	0.007948	0.21084	T	0.019	0.03383	0.247	0.18293	0.0846915920261	0.08053	0.10925980056292132	0.10854	0.0914239616523	0.10326	0.292502045631	0.09287	T	0.019449	0.15495	T	-0.231083	0.16505	T	-0.506066	0.21721	T	0.110808881770657	0.13507	T	0.835616	0.52386	T	0.09673237	0.22789	0.11236199	0.27110	0.09673237	0.22789	0.11236199	0.27109	-5.055	0.37431	T	.	.	0.074	0.05274	B	.;.;.;.;.;.	.;.;.;.;.;.	2.514499	0.32483	19.06	0.88530710791568057	0.18049	0.66627	0.33144	D	AEBCI	0.170220	0.29711	N	-0.414222639473277	0.24970	1.35211	-0.315797303720651	0.27588	1.531912	0.999995649170888	0.74766	0.706548	0.73137	0	0.659037	0.61890	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	6.17	2.3	0.27735	1.178000	0.31590	1.433000	0.26463	0.750000	0.87069	0.999000	0.42656	0.996000	0.32793	0.986000	0.61781	0.6631:0.268:0.0689:0.0	7.582	0.27139	444	0.79803	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2874.98	34	chr3	99848748	.	A	C	2874.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=905;ExcessHet=0.0000;FS=8.393;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.13;ReadPosRankSum=-1.692e+00;SOR=0.384	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr3	100166377	100166377	C	T	exonic	CMSS1	.	nonsynonymous SNV	CMSS1:NM_001167924:exon5:c.C344T:p.S115F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.995	D	0.000	D	1.000	D	2.16	M	1.52	T	-0.841	T	0.198	T	0.917	3.949	20.2	5.6	2.629	6.217	18.174	0.408	0.0544932559133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.033	0.53072	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.051873	1	0.81001	D	2.265	0.64440	M	1.52	0.30669	T	-4.31	0.76576	D	0.698	0.71942	-0.8406	0.52607	T	0.198	0.55286	T	9	0.80531895	0.79879	D	0.054493	0.65878	D	0.408	0.72022	0.671	0.80903	0.749366424934	0.74710	0.6406780989571664	0.64002	0.196713787658	0.22038	0.661002039909	0.61553	T	0.139928	0.48854	T	0.25078	0.78674	D	0.122452	0.78397	D	0.995071709156036	0.86786	D	0.953605	0.82243	D	0.9362004	0.94861	0.8940613	0.94554	0.9362004	0.94861	0.8940613	0.94555	-11.086	0.80128	D	.	.	0.657	0.71221	P	.;.;.	.;.;.	5.208925	0.87404	29.2	0.99827948561704316	0.91026	0.96812	0.71072	D	AEFDGIJ	0.774341	0.70808	D	0.769268469231454	0.84153	8.209028	0.75987147129781	0.86892	9.037498	0.999999752633225	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.6	5.6	0.84997	6.018000	0.70464	7.570000	0.60688	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.174	0.89688	504	0.75712	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	770.98	33	chr3	100166377	.	C	T	770.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.594;DP=761;ExcessHet=0.0000;FS=0.898;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.71;ReadPosRankSum=2.01;SOR=0.624	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1093	20	0	1	0
chr3	100319089	100319089	A	G	exonic	TBC1D23	.	nonsynonymous SNV	TBC1D23:NM_018309:exon16:c.A1663G:p.M555V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.001	B	0.000	N	1.000	D	0.205	N	1.61	T	-1.083	T	0.041	T	0.258	1.999	12.64	5.01	1.146	7.014	12.186	0.061	0.00883500491593	.	.	4.173e-05	0	0	0	0	7.598e-05	0	0	3.23e-05	5	154602	rs773646253	1.477e-05	1.779e-05	1.542e-05	1.412e-05	3.689e-05	9.49e-06	8.06e-06	9.8e-06	7.8e-06	0	0	0	0	0	0	1.566e-05	1.695e-05	3.689e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	6.543e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	6.543e-05	0	0	0	0	0	0	0	0.284	0.15354	T	0.286	0.21411	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	N	0.170658	0.999984	0.58761	D	0.345	0.11182	N	1.61	0.28391	T	-0.46	0.17624	N	0.241	0.27197	-1.0828	0.06814	T	0.041	0.17785	T	9	0.09637201	0.17281	T	0.008835	0.23294	T	0.061	0.17616	0.134	0.03833	0.343101102393	0.33919	0.41618546311424287	0.41534	0.249498265086	0.27528	0.621804058552	0.55984	T	0.018408	0.14847	T	-0.281728	0.10485	T	-0.47982	0.24466	T	0.282751381397247	0.24287	T	0.857914	0.55085	D	0.20978561	0.43256	0.13901748	0.33183	0.20978561	0.43256	0.13901748	0.33182	-0.074	0.00795	T	.	.	0.058	0.01408	B	.;.;.	.;.;.	2.499370	0.32263	18.99	0.91899831121817832	0.21220	0.97378	0.74370	D	AEFGBI	0.824295	0.74422	D	-0.14059470238683	0.35637	2.04943	0.0944941071340843	0.44272	2.712137	0.999937796524508	0.46732	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	6.16	5.01	0.66477	7.002000	0.76057	9.317000	0.80010	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9339:0.0:0.0661:0.0	12.186	0.53549	507	0.75469	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	493.98	33	chr3	100319089	.	A	G	493.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=763;ExcessHet=0.0000;FS=3.374;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.86;ReadPosRankSum=-2.090e+00;SOR=1.125	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1038	20	0	1	0
chr3	100748210	100748210	A	T	exonic	TFG	.	nonsynonymous SNV	TFG:NM_001007565:exon8:c.A882T:p.Q294H	Hereditary motor and sensory neuropathy, Okinawa type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.785	P	0.26	B	0.031	N	0.954	D	0.55	N	0.81	T	-1.084	T	0.061	T	0.513	2.574	14.57	-2.09	-0.240	-0.147	7.714	0.059	0.0182829465899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.523	0.27855	T	0.679	0.41373	P	0.133	0.33073	B	0.030876	0.25247	N	0.453994	0.953588	0.37837	D	1.7	0.43825	L	0.78	0.49358	T	-1.45	0.35597	N	0.227	0.25499	-1.0837	0.06646	T	0.061	0.25492	T	10	0.20861343	0.37196	T	0.018283	0.40290	T	0.143	0.38195	0.302	0.27003	0.705356058075	0.70279	0.13123349662016123	0.13048	0.479168406073	0.46961	0.468470573425	0.34469	T	0.207467	0.56712	T	-0.00893711	0.50413	T	-0.250614	0.49757	T	0.656803965568542	0.38756	D	0.813919	0.46746	T	0.05763543	0.11495	0.076843545	0.17059	0.05763543	0.11495	0.076843545	0.17059	-6.985	0.54413	T	0.2561985296782637	0.34635	0.250	0.52043	B	.;.;.;.	.;.;.;.	2.161685	0.27541	17.50	0.98472822414162686	0.41873	0.60532	0.31222	D	AEFDBCI	0.426107	0.49060	N	-0.307870303753261	0.28849	1.594659	-0.262333787269033	0.29350	1.643614	0.988693014208035	0.31598	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.16	-2.09	0.06831	-0.149000	0.10189	0.458000	0.18589	0.750000	0.87069	0.898000	0.31380	0.720000	0.26347	0.999000	0.91618	0.5209:0.1136:0.3655:0.0	7.714	0.27860	720	0.55521	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1757.98	42	chr3	100748210	.	A	T	1757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.240e-01;DP=1061;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=1.70;SOR=0.679	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,110,1453	20	0	1	0
chr3	100748376	100748376	G	A	exonic	TFG	.	nonsynonymous SNV	TFG:NM_001007565:exon8:c.G1048A:p.A350T	Hereditary motor and sensory neuropathy, Okinawa type, Autosomal dominant	.	8	1511	3	0	0	3	0.000991736	.	.	691249	not_provided|Inborn_genetic_diseases|Hereditary_motor_and_sensory_neuropathy,_Okinawa_type|Hereditary_spastic_paraplegia_57	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011468,MedGen:C1858338,OMIM:604484,Orphanet:90117|MONDO:MONDO:0014295,MedGen:C3714897,OMIM:615658,Orphanet:431329	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.48	T	0.0	B	0.001	B	0.000	D	1.000	D	0.805	L	0.85	T	-0.847	T	0.188	T	0.29	3.716	18.87	5.29	1.623	6.556	15.427	0.055	0.0127778480349	.	0.000399361	0.0003	0	0	0	0	7.497e-05	0	0.0020	0.0002587	40	154602	rs543542721	0.0001	0.0001	6.806e-05	0.0002	0.0019	0.0001	0.0001	0.0016	0.0015	0	0	0	0	0	0.0007	1.169e-05	9.935e-05	0.0019	6.567e-05	6.562e-05	2.57e-05	0.0001	0.0015	3.515e-05	2.615e-05	0.0007	0.0005	0	0	0	0	0	0	0	4.41e-05	0	0.0015	0.0	0.91255	D	0.72	0.05345	T	0.0	0.02946	B	0.001	0.04355	B	0.000012	0.62929	D	0.065325	0.999613	0.47849	D	1.935	0.51832	L	0.85	0.47130	T	-0.4	0.13805	N	0.431	0.47487	-0.8467	0.52195	T	0.188	0.53797	T	10	0.017051578	0.00362	T	0.012778	0.31649	T	0.055	0.15663	0.315	0.29096	0.334885890373	0.33091	0.20848579130829042	0.20764	0.690270448302	0.60526	0.589789450169	0.51464	T	0.190193	0.54466	T	-0.425883	0.01570	T	-0.397758	0.33646	T	0.220616810834853	0.21495	T	0.89741	0.64114	D	0.23484482	0.46312	0.31253764	0.57255	0.23484482	0.46312	0.31253764	0.57254	-4.125	0.25658	T	.	.	0.084	0.12891	B	.;.;.;.	.;.;.;.	4.439718	0.68917	25.3	0.99881993893635046	0.95813	0.97714	0.76605	D	ALL	0.901678	0.84866	D	0.29710327685263	0.56003	3.764366	0.417503456572557	0.62654	4.484587	0.999999999993556	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.16	5.29	0.74430	6.645000	0.74198	6.695000	0.56353	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0669:0.0:0.9331:0.0	15.427	0.74780	720	0.55521	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2180.98	42	chr3	100748376	.	G	A	2180.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.391e+00;DP=1022;ExcessHet=0.0000;FS=0.533;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=-5.840e-01;SOR=0.761	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,110,1453	20	0	1	0
chr3	100775231	100775231	C	G	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.G2284C:p.V762L	.	.	428	1053	38	3	0	44	0.0204651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.605	P	0.17	B	0.254	N	1.000	N	0.69	N	2.3	T	-1.059	T	0.023	T	0.202	2.061	12.85	4.13	1.242	0.984	9.451	0.015	.	0.0024	0.00778754	0.0058	0.0001	0.0038	0.0001	0.0002	0.0030	0.0053	0.0282	0.0045924	710	154602	rs141302553	0.0036	0.0037	0.0030	0.0043	0.0235	0.0036	0.0035	0.0227	0.0223	0.0005	0.0031	0.0007	0	0.0003	0.0147	0.0025	0.0037	0.0235	0.0026	0.0026	0.0023	0.0029	0.0243	0.0024	0.0023	0.0207	0.0194	0.0004	0	0.0027	0.0003	0	0.0002	0.0068	0.0030	0.0038	0.0243	0.052	0.39097	T	0.242	0.24264	T	0.575	0.38708	P	0.17	0.35299	B	0.254282	0.15444	N	0.663319	0.999809	0.20292	N	1.01	0.25309	L	2.3	0.22067	T	-1.15	0.29525	N	0.183	0.19861	-1.0594	0.11905	T	0.023	0.09832	T	10	0.003952503	0.00076	T	.	.	.	0.015	0.02232	.	.	0.527759996296	0.52422	0.28051411292793593	0.27964	0.0954240108754	0.10779	0.301007211208	0.10550	T	0.018758	0.26335	T	-0.544653	0.00314	T	-0.536879	0.18604	T	0.0113682145057753	0.00169	T	0.855414	0.54290	D	0.087015405	0.20245	0.07827063	0.17516	0.087015405	0.20245	0.07827063	0.17516	.	.	.	.	.	0.166	0.36515	B	.;.;.	.;.;.	1.770697	0.22515	15.65	0.98556643482280593	0.42922	0.60854	0.31315	D	AEFBI	0.218867	0.34383	N	-0.345431351367633	0.27441	1.505536	-0.236779375550058	0.30228	1.700263	0.993254032926957	0.33144	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	5.0	4.13	0.47661	1.054000	0.30064	1.754000	0.28498	0.549000	0.26987	0.504000	0.26986	0.003000	0.18671	0.502000	0.29062	0.0:0.9006:0.0:0.0994	9.451	0.37891	722	0.55239	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	793.98	37	chr3	100775231	.	C	G	793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.204;DP=761;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.73;ReadPosRankSum=0.541;SOR=0.704	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1066	20	0	1	0
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.217	B	0.064	B	0.130	N	1.000	N	0.69	N	2.23	T	-0.991	T	0.069	T	0.165	-0.071	3.653	-1.84	-0.269	-0.189	9.015	0.028	0.0042577872272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40832	T	0.851	0.17064	T	0.11	0.26188	B	0.064	0.27215	B	0.129979	0.18676	N	0.542434	0.998149	0.23853	N	2.245	0.63543	M	2.23	0.22881	T	-0.36	0.13035	N	0.238	0.26837	-0.9907	0.32424	T	0.069	0.28113	T	10	0.1329661	0.25307	T	0.004258	0.10310	T	0.028	0.06331	0.178	0.08503	0.536287059136	0.53279	0.1284411164199673	0.12769	0.081923470924	0.09225	0.37267062068	0.21215	T	0.013394	0.13935	T	-0.217609	0.18322	T	-0.550357	0.17292	T	0.24375493824482	0.22591	T	0.640436	0.25296	T	0.023745567	0.01140	0.03538561	0.02781	0.023745567	0.01140	0.03538561	0.02780	.	.	.	.	.	0.112	0.22024	B	.;.;.	.;.;.	1.023665	0.14032	10.60	0.62105742636814754	0.06878	0.33788	0.24913	N	AEFDBIJ	0.088700	0.17982	N	-0.138409453698759	0.35730	2.055995	-0.25515300555331	0.29594	1.659267	0.971890519317384	0.29325	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.68	-1.84	0.07387	-0.061000	0.11650	0.266000	0.16602	-0.194000	0.09177	0.988000	0.36536	0.994000	0.32194	0.924000	0.46004	0.0:0.5259:0.0:0.4741	9.015	0.35326	722	0.55239	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4048	2827.45	43	chr3	100775333	.	T	C	2827.45	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-7.940e-01;DP=858;ExcessHet=25.1139;FS=205.111;InbreedingCoeff=-0.6641;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=4.20;ReadPosRankSum=0.283;SOR=11.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:32,11:43:8:.:.:8,0,648	4	0	17	0
chr3	100804848	100804848	C	G	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_001349332:exon20:c.G1670C:p.R557P	.	.	429	1073	19	1	0	21	0.00969082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.357	B	0.069	B	0.634	N	1.000	N	1.195	L	2.11	T	-0.999	T	0.070	T	0.475	1.844	12.13	-8.04	-1.459	-3.011	5.204	0.017	0.0369188699801	0.0008	0.000998403	0.0016	0.0001	0.0010	0	0.0002	0.0015	0.0034	0.0046	0.0013971	216	154602	rs146922324	0.0010	0.0010	0.0008	0.0011	0.0132	0.0009	0.0009	0.0108	0.0099	0.0005	0.0013	3.832e-05	0	0.0003	0.0132	0.0007	0.0012	0.0049	0.0009	0.0009	0.0008	0.0009	0.0046	0.0008	0.0007	0.0031	0.0026	0.0002	0	0.0010	0	0	0.0003	0.0068	0.0011	0.0038	0.0046	0.202	0.49117	T	0.328	0.20164	T	0.357	0.33788	B	0.069	0.27757	B	0.634394	0.05831	N	1.178940	1	0.08975	N	1.355	0.33814	L	2.11	0.58029	T	-1.68	0.40660	N	0.234	0.26354	-0.9994	0.30087	T	0.070	0.28412	T	10	0.003825426	0.00072	T	0.036919	0.57292	D	0.078	0.22779	.	.	0.606186980318	0.60303	0.1905760927735863	0.18975	0.584409154258	0.54121	0.229979485273	0.01966	T	0.024289	0.24842	T	-0.424106	0.01611	T	-0.381572	0.35538	T	0.0220031427266838	0.00909	T	0.725927	0.37153	T	0.19192603	0.40841	0.14755212	0.34913	0.19192603	0.40840	0.14755212	0.34912	.	.	.	.	.	0.162	0.39815	B	.;.;.;.	.;.;.;.	-0.830515	0.01048	0.045	0.98365049274544203	0.40689	0.01349	0.04629	N	AEFBI	0.251608	0.37144	N	-0.937752083884039	0.09970	0.4742376	-1.14110565828453	0.06929	0.3352134	0.999988366678365	0.51787	0.693126	0.56070	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.18	-8.04	0.00980	-4.111000	0.00332	-20.000000	0.00162	0.490000	0.22344	0.000000	0.06391	0.000000	0.08366	0.951000	0.49849	0.0973:0.2461:0.0962:0.5605	5.204	0.14606	725	0.54935	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2894.11	33	chr3	100804848	.	C	G	2894.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.62;DP=889;ExcessHet=0.1072;FS=1.073;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=1.00;SOR=0.804	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1399	19	0	2	0
chr3	101244073	101244073	G	A	exonic	IMPG2	.	nonsynonymous SNV	IMPG2:NM_016247:exon13:c.C2258T:p.S753L,	Macular dystrophy, vitelliform, 5, Autosomal dominant;Retinitis pigmentosa 56, Autosomal recessive	.	0	1512	10	0	0	10	0.00329598	.	.	795297	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.005	B	0.004	B	0.728	N	1.000	N	0.895	L	1.98	T	-1.042	T	0.044	T	0.201	1.035	9.229	4.09	1.496	1.287	9.364	0.060	0.00418197860985	7.7e-05	0.000199681	0.0003	0	0	0	0	0.0003	0.0011	0.0012	0.0002911	45	154602	rs200818740	0.0003	0.0003	0.0003	0.0004	0.0029	0.0003	0.0003	0.0019	0.0015	0	6.708e-05	0	0	0	0.0029	0.0003	0.0005	0.0013	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0001	0.0007	0.0005	2.405e-05	0	0.0003	0.0003	0	0	0	0.0003	0.0005	0.0014	0.004	0.65419	D	0.304	0.20100	T	0.005	0.12996	B	0.004	0.10090	B	0.727817	0.06351	N	1.155940	1	0.08975	N	0.975	0.24501	L	1.98	0.21865	T	-2.55	0.55181	D	0.174	0.18649	-1.0415	0.16860	T	0.044	0.18906	T	10	0.015675575	0.00329	T	0.004182	0.10058	T	0.060	0.17295	.	.	0.251116650651	0.24721	0.3066557227337718	0.30578	0.0631969262853	0.07035	0.322415411472	0.13786	T	0.03956	0.25230	T	-0.509833	0.00503	T	-0.555557	0.16796	T	0.0437377497545454	0.04373	T	0.746525	0.36724	T	0.078730166	0.17946	0.12932132	0.31097	0.078730166	0.17945	0.12932132	0.31096	-4.152	0.26053	T	0.28040452191622073	0.37561	0.089	0.12132	B	.	.	2.128451	0.27094	17.35	0.99117944481534981	0.52906	0.44387	0.27307	N	AEFDGBIJ	0.060563	0.11517	N	-0.525510042491082	0.21258	1.126818	-0.458526884533021	0.23307	1.270346	0.999907873422862	0.45458	0.554377	0.28877	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.88	4.09	0.47038	2.048000	0.40903	5.810000	0.50000	0.676000	0.76740	0.784000	0.29521	1.000000	0.68203	0.053000	0.15439	0.1639:0.0:0.8361:0.0	9.364	0.37377	279	0.89001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3014.98	34	chr3	101244073	.	G	A	3014.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.512e+00;DP=968;ExcessHet=0.0000;FS=0.968;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.11;ReadPosRankSum=0.055;SOR=0.624	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1060	20	0	1	0
chr3	101565080	101565080	T	C	exonic	TRMT10C	.	nonsynonymous SNV	TRMT10C:NM_017819:exon2:c.T299C:p.M100T,	Combined oxidative phosphorylation deficiency 30, Autosomal recessive	.	438	1082	2	0	0	2	0.000923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.894	P	0.314	B	0.000	N	0.999	D	1.745	L	0.79	T	-0.952	T	0.122	T	0.568	2.465	14.20	4.71	1.152	3.768	12.199	0.118	0.0146547116321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.41637	D	0.199	0.40747	T	0.894	0.49185	P	0.314	0.41528	B	0.000053	0.53742	N	0.216781	0.999354	0.46766	D	.	.	.	0.79	0.49068	T	-2.99	0.62151	D	0.282	0.31925	-0.9520	0.40625	T	0.122	0.42441	T	10	0.36608166	0.53111	T	0.014655	0.34921	T	0.118	0.32913	0.418	0.45873	0.462809833587	0.45907	0.4587298760086353	0.45790	0.20180106585	0.22587	0.579505085945	0.50017	T	0.056198	0.30219	T	-0.0435187	0.45425	T	-0.300288	0.44694	T	0.881214261054993	0.53126	D	0.562144	0.19728	T	0.1976623	0.41639	0.21658497	0.46292	0.1976623	0.41638	0.21658497	0.46291	-4.737	0.33848	T	0.2244901813620153	0.30318	0.323	0.54739	B	.;.	.;.	2.697360	0.35225	19.84	0.98456860837395654	0.41688	0.98252	0.80950	D	AEFDBI	0.555443	0.56588	D	0.304343462312157	0.56372	3.801731	0.357303344708187	0.58947	4.068827	0.9999997076676	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.87	4.71	0.59010	3.731000	0.54739	5.077000	0.47232	-0.121000	0.13915	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0666:0.0:0.9334	12.199	0.53625	491	0.76657	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	893.98	37	chr3	101565080	.	T	C	893.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.295e+00;DP=789;ExcessHet=0.0000;FS=5.417;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-5.160e-01;SOR=0.273	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1261	20	0	1	0
chr3	101726726	101726726	G	A	exonic	CEP97	.	nonsynonymous SNV	CEP97:NM_001303401:exon2:c.G176A:p.R59Q	.	.	443	1058	20	1	0	22	0.01029	.	.	697731	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.11	T	0.05	B	0.005	B	0.086	N	1.000	N	-0.08	N	2.25	T	-1.027	T	0.020	T	0.136	1.306	10.28	1.21	0.001	0.305	8.439	0.011	.	0.0062	0.00359425	0.0049	0.0018	0.0032	0	0.0021	0.0070	0.0068	0.0032	0.0049029	758	154602	rs111912421	0.0055	0.0055	0.0054	0.0055	0.0149	0.0054	0.0053	0.0123	0.0113	0.0009	0.0047	0.0101	0	0.0023	0.0149	0.0059	0.0055	0.0038	0.0043	0.0043	0.0045	0.0040	0.0061	0.0040	0.0039	0.0057	0.0055	0.0012	0	0.0055	0.0092	0	0.0018	0.0170	0.0061	0.0099	0.0041	0.488	0.08042	T	0.399	0.17217	T	0.0	0.22331	B	0.001	0.11217	B	0.086353	0.20592	N	0.522230	0.999948	0.19238	N	0.26	0.09897	N	1.85	0.24472	T	-0.43	0.15782	N	0.169	0.19190	-1.0270	0.21429	T	0.020	0.08220	T	10	0.0071690083	0.00163	T	.	.	.	0.011	0.01250	.	.	0.126345400529	0.12197	0.15193629144885137	0.15115	0.154575907448	0.17459	0.223914563656	0.01548	T	0.025059	0.18811	T	-0.608585	0.00129	T	-0.641839	0.09536	T	0.00445689653772084	0.00048	T	0.712229	0.32360	T	0.028845077	0.02286	0.029281542	0.01249	0.023598185	0.01112	0.029281542	0.01249	-8.115	0.61852	D	0.14944447779688108	0.17476	0.059	0.02927	B	.;.	.;.	1.445491	0.18657	13.86	0.96849303875392245	0.31335	0.40495	0.26449	N	AEFGBI	0.054901	0.10023	N	-0.747383033918041	0.14705	0.7347482	-0.603242862989842	0.19408	1.041218	0.999128319930685	0.38507	0.651	0.46895	0	0.685571	0.66316	0	0.65145	0.50148	0	0.563494	0.21769	0	.	.	4.82	1.21	0.20240	0.393000	0.20543	-0.639000	0.08086	-0.113000	0.14837	0.855000	0.30528	0.000000	0.08366	0.976000	0.56436	0.5956:0.0:0.4044:0.0	8.439	0.31967	788	0.46569	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1029.98	34	chr3	101726726	.	G	A	1029.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=768;ExcessHet=0.0000;FS=0.889;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.04;ReadPosRankSum=0.265;SOR=0.846	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1075	20	0	1	0
chr3	101732588	101732588	C	T	exonic	CEP97	.	nonsynonymous SNV	CEP97:NM_001303401:exon6:c.C662T:p.P221L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	1.79	L	1.16	T	-0.739	T	0.225	T	0.927	5.322	34	5.82	2.756	7.786	20.109	0.574	0.10196030905	.	.	1.649e-05	9.614e-05	0	0	0	1.5e-05	0	0	1.29e-05	2	154602	rs767825851	6.841e-06	6.84e-06	5.445e-06	8.251e-06	2.519e-05	3.46e-06	2.52e-06	3.1e-06	2.24e-06	0	0	0	2.519e-05	0	0	7.195e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.72154	D	0.006	0.70582	D	1.0	0.90584	D	0.981	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.065	0.27018	L	1.16	0.38073	T	-9.98	0.98796	D	0.735	0.82761	-0.7390	0.58504	T	0.225	0.58881	T	10	0.7872319	0.78351	D	0.10196	0.77514	D	0.574	0.82742	0.539	0.65018	0.689493914899	0.68683	0.759596545045756	0.75907	0.615807059448	0.56063	0.839955329895	0.88088	D	0.276733	0.64933	T	0.127382	0.67105	D	0.126727	0.78677	D	0.997541189193726	0.91815	D	0.968203	0.89432	D	0.5992094	0.72649	0.6533747	0.79712	0.5992094	0.72650	0.6533747	0.79713	-10.826	0.78695	D	0.8051707557438275	0.88117	0.828	0.87767	P	.;.	.;.	5.384335	0.90224	31	0.9989793759761546	0.97048	0.98972	0.89372	D	AEFGBHI	0.875290	0.79862	D	0.818282085057581	0.87235	9.14839	0.825696613854639	0.91520	10.92876	0.99999999996887	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.82	5.82	0.92740	7.876000	0.85623	7.631000	0.62734	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	20.109	0.97902	787	0.46738	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1262.98	33	chr3	101732588	.	C	T	1262.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=807;ExcessHet=0.0000;FS=5.661;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=-2.434e+00;SOR=0.786	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1333	20	0	1	0
chr3	101755512	101755512	G	A	exonic	CEP97	.	nonsynonymous SNV	CEP97:NM_001303401:exon7:c.G811A:p.A271T	.	.	431	1089	2	0	0	2	0.000917431	.	.	1930442	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.183	B	0.331	B	0.000	D	1.000	D	1.7	L	0.63	T	-0.706	T	0.213	T	0.545	4.234	22.0	5.16	1.568	6.487	15.109	0.174	0.0187824400777	.	0.000199681	0.0003	0	8.643e-05	0	0	0	0	0.0019	0.0002199	34	154602	rs567184992	0.0002	0.0002	0.0001	0.0002	0.0021	0.0001	0.0001	0.0019	0.0018	0	2.236e-05	0	0	0	0.0005	2.428e-05	0.0002	0.0021	0.0001	0.0001	0.0002	0.0001	0.0017	9.754e-05	8.267e-05	0.0008	0.0006	0	0.0121	0	0	0	0	0	4.414e-05	0	0.0017	0.049	0.39820	D	0.006	0.70582	D	0.051	0.29179	B	0.078	0.31615	B	0.000000	0.84330	D	0.050258	0.999962	0.52935	D	1.765	0.45800	L	0.51	0.55439	T	-1.29	0.35399	N	0.321	0.37301	-0.7056	0.60169	T	0.213	0.57347	T	10	0.012366354	0.00266	T	0.018782	0.40954	T	0.174	0.44019	0.499	0.58991	0.699765734033	0.69716	0.5187634475872913	0.51799	0.167373738251	0.18878	0.752485334873	0.74812	T	0.075603	0.35216	T	-0.326639	0.06369	T	-0.248446	0.49969	T	0.0863511249552458	0.10779	T	0.858514	0.55630	D	0.19113491	0.40728	0.20927566	0.45265	0.19113491	0.40728	0.20927566	0.45264	-7.976	0.60906	D	0.545717910454709	0.61485	0.385	0.62665	A	.;.	.;.	5.025538	0.83546	28.1	0.99818931546998535	0.90238	0.97929	0.78202	D	AEFBI	0.635669	0.61510	D	0.176511432356482	0.50073	3.200887	0.320324253646946	0.56736	3.83734	0.993220611874266	0.33132	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.03	5.16	0.70563	6.608000	0.74043	9.775000	0.81571	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0673:0.0:0.9327:0.0	15.109	0.72017	795	0.45444	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1815.98	34	chr3	101755512	.	G	A	1815.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.160e-01;DP=814;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.13;ReadPosRankSum=0.702;SOR=0.648	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr3	101758093	101758093	A	T	exonic	CEP97	.	nonsynonymous SNV	CEP97:NM_001303401:exon9:c.A1310T:p.D437V	.	.	425	1086	11	0	0	11	0.00503894	.	.	1930444	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.361	B	0.116	B	0.007	N	0.820	N	0.895	L	0.65	T	-1.000	T	0.091	T	0.306	0.281	5.522	2.95	0.336	0.982	4.745	0.013	0.0317981589613	.	0.000199681	0.0003	0	8.642e-05	0	0	5.994e-05	0	0.0022	0.0002717	42	154602	rs546587338	0.0002	0.0002	0.0002	0.0003	0.0025	0.0002	0.0002	0.0022	0.0021	0	0.0001	0	0	0	0.0012	6.924e-05	0.0004	0.0025	0.0002	0.0002	0.0002	0.0002	0.0025	0.0001	0.0001	0.0014	0.0011	0	0.0121	0	0	0	0	0	0.0001	0	0.0025	0.057	0.78490	T	0.113	0.36901	T	0.361	0.33905	B	0.058	0.31939	B	0.006548	0.31955	N	0.317042	0.820237	0.28891	N	2.38	0.68558	M	0.65	0.54347	T	-2.65	0.56787	D	0.216	0.24135	-1.0000	0.29917	T	0.091	0.34737	T	10	0.004094392	0.00080	T	0.031798	0.53791	D	0.013	0.01715	.	.	0.457286136841	0.45351	0.2289137162890929	0.22806	0.198422229685	0.22219	0.255104035139	0.04325	T	0.057414	0.30559	T	-0.411039	0.01956	T	-0.367821	0.37144	T	0.0576546604839948	0.06794	T	0.69663	0.32778	T	0.11778785	0.27762	0.11657826	0.28142	0.12980409	0.30306	0.10134949	0.24260	-4.347	0.28830	T	0.1827847218357728	0.23632	0.111	0.29588	B	.;.	.;.	1.434164	0.18528	13.79	0.95063863742045163	0.26096	0.22700	0.21834	N	AEFBI	0.074498	0.14935	N	-0.736324187262618	0.15006	0.752552	-0.743114838725511	0.15891	0.8380567	0.00573241819031783	0.11028	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.37	2.95	0.33285	0.517000	0.22539	5.314000	0.48272	0.691000	0.84096	0.026000	0.20160	1.000000	0.68203	0.736000	0.35301	0.7443:0.0:0.0902:0.1656	4.745	0.12408	795	0.45444	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2020.98	34	chr3	101758093	.	A	T	2020.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.078;DP=831;ExcessHet=0.0000;FS=2.097;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=-1.308e+00;SOR=0.690	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1141	20	0	1	0
chr3	105534801	105534801	G	A	exonic	ALCAM	.	nonsynonymous SNV	ALCAM:NM_001243280:exon6:c.G686A:p.G229D	.	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	1.0	D	0.000	D	1.000	D	2.445	M	-1.05	T	-0.146	T	0.343	T	0.745	2.418	14.04	5.33	2.654	6.690	19.399	0.545	0.0669838561962	0.0002	0.00199681	0.0010	0	0.0004	0.0079	0	0.0004	0.0022	0.0008	0.0008344	129	154602	rs10933819	0.0004	0.0004	0.0003	0.0004	0.0053	0.0003	0.0003	0.0047	0.0045	2.991e-05	2.238e-05	0.0020	0.0053	0	0.0003	0.0001	0.0007	0.0009	0.0005	0.0005	0.0005	0.0005	0.0081	0.0004	0.0003	0.0062	0.0055	2.41e-05	0	6.55e-05	0.0029	0.0081	0	0	0.0001	0	0.0017	0.132	0.26519	T	0.063	0.92824	T	1.0	0.90584	D	1.0	0.97372	D	0.000017	0.62929	D	0.156402	0.999995	0.58761	D	1.22	0.30592	L	-1.05	0.76690	T	-3.01	0.62518	D	0.728	0.72925	-0.1461	0.79013	T	0.343	0.70851	T	10	0.010920405	0.00241	T	0.066984	0.70034	D	0.545	0.81077	.	.	0.65520304329	0.65232	0.6153759300991104	0.61469	0.388407156696	0.40106	0.645785570145	0.59386	T	0.637296	0.88833	D	-0.14333	0.29361	T	0.0253452	0.71977	D	0.074053635919553	0.09209	T	0.937406	0.76468	D	0.5644746	0.70757	0.6662655	0.80430	0.5644746	0.70758	0.6662655	0.80431	-6.515	0.50402	T	.	.	0.293	0.52393	B	.;.;.	.;.;.	4.191632	0.63182	24.5	0.98706876660425658	0.44996	0.97708	0.76563	D	AEFBI	0.801402	0.72711	D	0.522094873493282	0.68399	5.211732	0.566680457528046	0.72565	5.83001	0.999999999995365	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.33	5.33	0.75683	6.801000	0.74958	11.706000	0.94575	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	19.399	0.94612	658	0.62094	CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain;.;CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1327.98	33	chr3	105534801	.	G	A	1327.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.570e-01;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=-1.257e+00;SOR=0.631	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1172	20	0	1	0
chr3	105552476	105552476	A	G	exonic	ALCAM	.	nonsynonymous SNV	ALCAM:NM_001243280:exon13:c.A1516G:p.R506G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.118	B	0.026	B	0.006	N	0.782	D	0	N	1.25	T	-0.954	T	0.085	T	0.424	2.590	14.62	5.76	2.200	6.125	16.061	0.082	0.0117768431271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.85e-07	6.84e-07	1.363e-06	0	9.005e-07	0	0	.	.	0	0	0	0	0	0	9.005e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.24661	T	0.164	0.32568	T	0.008	0.14655	B	0.011	0.15521	B	0.005769	0.32522	N	0.335796	0.683383	0.34277	D	1.1	0.28011	L	0.56	0.57100	T	0.0	0.31170	N	0.233	0.32481	-0.9538	0.40310	T	0.085	0.33099	T	10	0.14050311	0.26705	T	0.011777	0.29743	T	0.082	0.23913	0.303	0.27164	0.357212565759	0.35331	0.33004951540693694	0.32917	0.279963403592	0.30479	0.476844847202	0.35623	T	0.074221	0.34886	T	-0.0441981	0.45324	T	-0.301264	0.44592	T	0.470210767918184	0.31538	T	0.925507	0.72788	D	0.12800577	0.29938	0.14728814	0.34863	0.12800577	0.29938	0.14728814	0.34862	-2.865	0.08798	T	.	.	0.129	0.27463	B	.;.;.	.;.;.	3.606361	0.50966	23.0	0.98750635554457955	0.45648	0.99118	0.91490	D	AEFBI	0.869466	0.79001	D	-0.149295633491919	0.35264	2.023336	0.102050482655791	0.44654	2.742917	0.999997661545733	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.76	5.76	0.90726	6.137000	0.71462	8.037000	0.76298	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	16.061	0.80641	693	0.58582	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1689.98	38	chr3	105552476	.	A	G	1689.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.097;DP=911;ExcessHet=0.0000;FS=1.856;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.04;ReadPosRankSum=0.224;SOR=0.853	GT:AD:DP:GQ:PL	0/1:111,76:187:99:1704,0,2776	20	0	1	0
chr3	105702188	105702188	C	G	exonic	CBLB	.	nonsynonymous SNV	CBLB:NM_001321796:exon11:c.G1718C:p.S573T	.	.	426	1071	25	0	0	25	0.0115367	.	.	137562	not_provided|CBLB-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	0.004	N	1.000	N	1.67	L	-1.1	T	-0.612	T	0.301	T	0.053	-0.300	2.568	3.83	0.705	0.429	2.526	0.177	.	0.0052	0.00379393	0.0060	0.0019	0.0012	0	0.0073	0.0085	0.0088	0.0041	0.005692	880	154602	rs41302192	0.0067	0.0067	0.0066	0.0068	0.0104	0.0066	0.0066	0.0083	0.0075	0.0012	0.0017	0.0083	0	0.0091	0.0104	0.0073	0.0063	0.0053	0.0046	0.0046	0.0046	0.0046	0.0072	0.0043	0.0042	0.0067	0.0065	0.0011	0	0.0018	0.0063	0	0.0064	0.0034	0.0072	0.0085	0.0048	0.407	0.10245	T	0.337	0.18178	T	0.0	0.02946	B	0.0	0.04355	B	0.004302	0.33881	N	0.346231	1	0.08975	N	1.355	0.33814	L	-1.76	0.83737	D	-0.29	0.12283	N	0.084	0.10483	-0.6124	0.64304	T	0.301	0.67186	T	10	0.0064592063	0.00146	T	.	.	.	0.177	0.44549	.	.	0.44573540394	0.44196	.	.	0.0470032956978	0.05119	0.456803798676	0.32873	T	0.253633	0.62419	T	-0.500997	0.00564	T	-0.486875	0.23719	T	0.00121471077387261	0.00012	T	0.723828	0.33737	T	0.033285264	0.03517	0.028132526	0.01023	0.033285264	0.03517	0.028132526	0.01022	-4.025	0.24177	T	.	.	0.062	0.04198	B	.;.;.;.	.;.;.;.	1.416433	0.18325	13.67	0.71180703599064998	0.09542	0.05685	0.11604	N	AEFBI	0.022585	0.01147	N	-0.503872334760908	0.21955	1.168897	-0.45590956545705	0.23382	1.274778	0.0083881976940182	0.11666	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.67	3.83	0.43287	0.588000	0.23626	2.743000	0.34477	0.512000	0.23348	0.016000	0.19238	1.000000	0.68203	0.477000	0.28498	0.1415:0.4284:0.2742:0.1559	2.526	0.04405	953	0.10115	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1877.98	33	chr3	105702188	.	C	G	1877.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.93;DP=903;ExcessHet=0.0000;FS=2.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.32;ReadPosRankSum=-5.530e-01;SOR=0.518	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1103	20	0	1	0
chr3	107377771	107377771	G	A	exonic	CCDC54	.	nonsynonymous SNV	CCDC54:NM_032600:exon1:c.G184A:p.G62R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.17	B	0.027	B	0.130	N	1.000	N	0	N	0.84	T	-1.062	T	0.030	T	0.05	0.208	5.123	1.74	0.312	2.076	7.921	0.044	.	0.0081	0.00499201	0.0020	0.0222	0.0007	0	0	7.494e-05	0.0022	0	0.0018823	291	154602	rs116546605	0.0007	0.0007	0.0008	0.0006	0.0231	0.0006	0.0006	0.0217	0.0212	0.0231	0.0015	0	7.559e-05	1.872e-05	0.0009	3.597e-05	0.0014	0.0002	0.0064	0.0064	0.0065	0.0063	0.0219	0.0060	0.0059	0.0207	0.0203	0.0219	0	0.0025	0	0	9.434e-05	0	0.0001	0.0038	0.0004	0.096	0.31088	T	0.018	0.59732	D	0.17	0.28703	B	0.027	0.21085	B	0.130384	0.18660	N	0.441579	0.999995	0.08975	N	0	0.06538	N	0.84	0.47477	T	1.67	0.00599	N	0.201	0.22228	-1.0618	0.11312	T	0.030	0.12979	T	10	0.0035351217	0.00063	T	.	.	.	0.044	0.11924	0.162	0.06618	0.107399877778	0.10242	0.04046608837318997	0.03992	0.0465308909399	0.05060	0.295031487942	0.09662	T	0.002022	0.01432	T	-0.665765	0.00058	T	-0.711516	0.05218	T	0.0134037528383482	0.00243	T	0.284172	0.05010	T	0.028765023	0.02265	0.066893935	0.13764	0.028765023	0.02265	0.066893935	0.13764	-3.795	0.20730	T	.	.	0.095	0.14933	B	.	.	2.326665	0.29799	18.24	0.88973468746993489	0.18406	0.47105	0.27909	N	AEFDBI	0.122462	0.23761	N	-0.811495939471922	0.13016	0.6383349	-0.739208220942943	0.15987	0.8436074	0.0986880301957099	0.16311	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.54	1.74	0.23636	2.192000	0.42281	1.370000	0.25949	-0.825000	0.02924	0.987000	0.36337	0.831000	0.27213	0.000000	0.00833	0.3394:0.0:0.6606:0.0	7.921	0.29006	773	0.48803	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2115.98	35	chr3	107377771	.	G	A	2115.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.75;DP=1168;ExcessHet=0.0000;FS=4.260;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.38;ReadPosRankSum=-6.100e-01;SOR=0.858	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr3	107378225	107378225	T	C	exonic	CCDC54	.	nonsynonymous SNV	CCDC54:NM_032600:exon1:c.T638C:p.I213T,	.	.	420	1081	21	0	0	21	0.00961979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	0.037	B	0.012	B	0.597	N	1.000	N	1.265	L	0.94	T	-1.027	T	0.054	T	0.102	-2.445	0.003	1.82	0.658	-0.049	5.281	0.042	.	0.0058	0.00559105	0.0074	0.0024	0.0058	0	0.0006	0.0095	0.0044	0.0099	0.0074191	1147	154602	rs34158098	0.0084	0.0084	0.0082	0.0085	0.0196	0.0082	0.0082	0.0167	0.0156	0.0019	0.0085	0.0086	0	0.0011	0.0196	0.0091	0.0083	0.0086	0.0061	0.0061	0.0063	0.0058	0.0093	0.0057	0.0056	0.0087	0.0085	0.0019	0.0022	0.0076	0.0101	0	0.0002	0.0034	0.0093	0.0085	0.0073	0.43	0.09543	T	1.0	0.01155	T	0.037	0.20876	B	0.012	0.16012	B	0.597005	0.05624	N	1.266050	1	0.08975	N	1.245	0.31408	L	0.94	0.43672	T	-2.17	0.49018	N	0.092	0.07125	-1.0270	0.21429	T	0.054	0.22808	T	10	0.005481869	0.00121	T	.	.	.	0.042	0.11227	.	.	0.0297737177859	0.01360	0.03753949567111663	0.03699	0.0705823064649	0.07905	0.360315144062	0.19431	T	0.003405	0.02809	T	-0.648829	0.00074	T	-0.697098	0.05987	T	0.0016111737451026	0.00016	T	0.456654	0.13107	T	0.0464914	0.07790	0.07059691	0.15018	0.0464914	0.07790	0.07059691	0.15018	-2.911	0.09253	T	.	.	0.182	0.39494	B	.	.	0.570465	0.09389	6.170	0.18592314549731387	0.00591	0.03232	0.08247	N	AEFBI	0.056594	0.10474	N	-0.993376873215944	0.08745	0.4111896	-1.00403197990642	0.09696	0.4839018	0.0260931468295475	0.13691	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.57	1.82	0.24209	-0.041000	0.12036	-0.022000	0.12912	0.609000	0.47794	0.001000	0.13787	0.000000	0.08366	0.135000	0.19760	0.0:0.1031:0.177:0.7199	5.281	0.14987	773	0.48803	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1822.98	35	chr3	107378225	.	T	C	1822.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.534e+00;DP=1059;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=1.02;SOR=0.681	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr3	107798693	107798693	C	G	exonic	BBX	.	nonsynonymous SNV	BBX:NM_020235:exon15:c.C2434G:p.R812G	.	.	432	1089	1	0	0	1	0.000458926	.	.	2725478	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.997	D	0.986	D	0.000	D	1.000	D	0.805	L	1.55	T	1.083	D	0.925	D	0.848	4.696	26.0	5.96	2.826	3.598	20.401	0.330	0.30503890382	.	.	8.286e-06	0	0	0	0	1.506e-05	0	0	6.5e-06	1	154602	rs376586358	1.231e-05	1.231e-05	9.529e-06	1.513e-05	0.0009	7.7e-06	6.35e-06	0.0003	0.0002	0	4.472e-05	0	0	0	0.0009	7.194e-06	4.967e-05	0	6.582e-06	6.57e-06	0	1.348e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.001	0.78490	D	0.04	0.55341	D	0.997	0.70673	D	0.986	0.76916	D	0.000042	0.53742	D	0.166719	0.999898	0.81001	D	.	.	.	1.55	0.98020	T	-2.84	0.80851	D	0.387	0.43126	1.083	0.98967	D	0.925	0.97537	D	10	0.5337547	0.63330	D	0.305039	0.91006	D	0.330	0.65226	0.315	0.29096	0.892024225134	0.89095	0.35293404145461454	0.35207	0.724124553774	0.62372	0.681325316429	0.64458	T	0.094635	0.42112	T	0.375684	0.88430	D	0.432318	0.93115	D	0.925509572029114	0.58726	D	0.932307	0.74741	D	0.3078582	0.53600	0.4317332	0.66781	0.3078582	0.53600	0.4317332	0.66782	-3.563	0.27484	T	.	.	0.391	0.62655	A	.;.;.;.;.	.;.;.;.;.	4.355962	0.66946	25.0	0.99840094028592419	0.92057	0.94743	0.62177	D	AEFDBIJ	.	.	.	0.542734134990064	0.69642	5.385921	0.61399667313309	0.75956	6.403078	0.999999999995808	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.636	0.56748	0	.	.	5.96	5.96	0.96695	4.231000	0.58439	5.997000	0.52425	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.401	0.98992	594	0.68584	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	740.98	33	chr3	107798693	.	C	G	740.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=767;ExcessHet=0.0000;FS=2.030;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.62;ReadPosRankSum=-7.140e-01;SOR=0.473	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1228	20	0	1	0
chr3	108398765	108398765	G	A	exonic	MYH15	.	nonsynonymous SNV	MYH15:NM_014981:exon36:c.C5065T:p.R1689C,	.	.	426	1080	15	1	0	17	0.00780891	.	.	708449	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.989	D	.	.	1.000	N	3.205	M	-1.69	D	-0.105	T	0.612	D	0.38	3.087	16.31	-4.34	-0.890	-0.354	6.445	0.287	0.0175268796891	0.0071	0.00339457	0.0063	0.0019	0.0065	0.0002	0.0020	0.0091	0.0044	0.0022	0.0061254	947	154602	rs76478083	0.0079	0.0079	0.0080	0.0079	0.0111	0.0078	0.0078	0.0091	0.0090	0.0015	0.0083	0.0049	5.038e-05	0.0023	0.0111	0.0092	0.0071	0.0022	0.0063	0.0063	0.0063	0.0064	0.0123	0.0060	0.0059	0.0109	0.0103	0.0015	0.0011	0.0123	0.0066	0.0002	0.0027	0.0238	0.0091	0.0099	0.0031	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.989	0.78396	D	.	.	.	.	0.999966	0.18878	N	3.365	0.91266	M	-1.69	0.82985	D	-6.36	0.91017	D	0.386	0.42737	-0.1052	0.79980	T	0.612	0.86283	D	9	0.016058832	0.00338	T	0.017527	0.39265	T	0.287	0.60574	.	.	0.866806358766	0.86551	0.36932150361077903	0.36846	0.488437407927	0.47645	0.200001746416	0.00457	T	0.632279	0.88618	D	-0.294874	0.09152	T	-0.188951	0.55689	T	0.0747861343621406	0.09306	T	0.952305	0.81786	D	0.30293593	0.53166	0.19586208	0.43285	0.30293593	0.53166	0.19586208	0.43284	-9.033	0.67910	D	.	.	0.096	0.15296	B	.	.	2.368197	0.30382	18.42	0.99748892985188742	0.84077	0.09315	0.15096	N	AEFBI	0.212162	0.33787	N	-0.262901672864685	0.30592	1.707208	-0.60984305547541	0.19240	1.031403	0.0050881057772144	0.10822	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.5	-4.34	0.03412	-0.170000	0.09886	-1.862000	0.04593	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.245:0.0:0.2714:0.4836	6.445	0.21075	321	0.86949	Myosin tail	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2604.08	33	chr3	108398765	.	G	A	2604.08	.	AC=2;AF=0.048;AN=42;DP=795;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=27.41;SOR=0.848	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1379	20	1	0	0
chr3	108455752	108455752	C	T	exonic	MYH15	.	nonsynonymous SNV	MYH15:NM_014981:exon21:c.G2306A:p.R769Q,	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.047	B	0.037	B	.	.	1.000	N	0.605	N	-2.26	D	-0.796	T	0.415	T	0.06	2.501	14.32	-5.93	-0.864	-0.792	17.296	0.181	0.0225166297663	.	.	8.287e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs750480643	1.505e-05	1.505e-05	1.634e-05	1.375e-05	5.975e-05	9.86e-06	8.42e-06	9.9e-06	6.42e-06	5.975e-05	0	0	2.521e-05	0	0	1.349e-05	1.656e-05	3.479e-05	6.573e-06	6.568e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.242	0.17584	T	0.18	0.29442	T	0.047	0.21998	B	0.037	0.23121	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	-2.26	0.87352	D	-0.38	0.13418	N	0.162	0.17002	-0.7960	0.55380	T	0.415	0.76211	T	9	0.084920466	0.14284	T	0.022517	0.45416	T	0.181	0.45247	0.625	0.76028	0.256283259241	0.25257	0.2783958799488588	0.27752	0.0947135218268	0.10699	0.167130619287	0.00023	T	0.148389	0.48691	T	-0.32178	0.06753	T	-0.518463	0.20451	T	0.0538911074399948	0.06171	T	0.79692	0.44048	T	0.05769139	0.11514	0.112065494	0.27036	0.05769139	0.11514	0.112065494	0.27035	-6.912	0.53388	T	.	.	0.076	0.06069	B	.	.	0.295619	0.06715	3.225	0.94966601315643939	0.25890	0.00803	0.03267	N	AEFBI	0.074924	0.15031	N	-1.36717140557068	0.02951	0.1310848	-1.37189541352496	0.03555	0.1660334	0.994920723152303	0.33865	0.559995	0.30671	0	0.573888	0.26702	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	6.06	-5.93	0.02067	-0.812000	0.04602	-5.251000	0.01789	-0.826000	0.02916	0.000000	0.06391	0.000000	0.08366	0.987000	0.62547	0.0:0.763:0.0:0.237	17.296	0.87057	565	0.70868	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1303.98	33	chr3	108455752	.	C	T	1303.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=837;ExcessHet=0.0000;FS=1.700;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.17;ReadPosRankSum=2.25;SOR=0.874	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1575	20	0	1	0
chr3	109000589	109000589	C	G	exonic	MORC1	.	nonsynonymous SNV	MORC1:NM_014429:exon21:c.G2155C:p.D719H,	.	.	450	1052	18	2	0	22	0.0103481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.79	P	0.275	B	0.250	N	1.000	N	0.345	N	3.29	T	-0.964	T	0.008	T	0.143	1.023	9.179	2.52	0.471	0.306	7.210	0.040	0.00757732467962	0.0035	0.00139776	0.0035	9.621e-05	0.0032	0	0.0008	0.0050	0.0044	0.0024	0.00326	504	154602	rs35276036	0.0033	0.0035	0.0032	0.0034	0.0399	0.0032	0.0032	0.0356	0.0340	0.0013	0.0038	0.0176	0	0.0014	0.0399	0.0030	0.0045	0.0026	0.0031	0.0031	0.0030	0.0033	0.0038	0.0029	0.0028	0.0034	0.0033	0.0006	0	0.0034	0.0251	0	0.0013	0.0578	0.0038	0.0085	0.0014	0.044	0.41096	D	0.12	0.38160	T	0.79	0.44599	P	0.275	0.40079	B	0.250038	0.15529	N	0.608791	1	0.08975	N	0.69	0.16971	N	3.27	0.06602	T	-1.16	0.30964	N	0.156	0.16168	-0.9636	0.38488	T	0.008	0.02926	T	10	0.004162073	0.00082	T	0.007577	0.20113	T	0.040	0.10527	.	.	0.352048277211	0.34822	0.08158007637580966	0.08093	0.35527665299	0.37290	0.361502379179	0.19605	T	0.053147	0.29361	T	-0.636271	0.00088	T	-0.682731	0.06818	T	0.00664194794448686	0.00074	T	0.533947	0.17813	T	0.06313538	0.13262	0.072445236	0.15630	0.06313538	0.13262	0.072445236	0.15630	-5.792	0.44505	T	.	.	0.115	0.25331	B	.;.	.;.	0.692981	0.10619	7.319	0.90771240131821285	0.20020	0.09396	0.15160	N	AEFBI	0.050039	0.08706	N	-0.688465166126628	0.16348	0.8321818	-0.751292955680224	0.15690	0.8264733	2.91677122939411E-5	0.03498	0.500041	0.20204	0	0.624306	0.53593	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.25	2.52	0.29514	0.348000	0.19784	-1.067000	0.06433	0.599000	0.40250	0.047000	0.21291	0.000000	0.08366	0.019000	0.11356	0.0:0.7293:0.0:0.2707	7.210	0.25103	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1324.98	36	chr3	109000589	.	C	G	1324.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.210e-01;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=0.412;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1190	20	0	1	0
chr3	109069732	109069732	C	T	exonic	MORC1	.	nonsynonymous SNV	MORC1:NM_014429:exon9:c.G715A:p.A239T,	.	.	432	1089	1	0	0	1	0.000458926	.	.	3453852	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	1.0	D	0.996	D	0.000	D	1.000	D	3.105	M	-0.76	T	0.359	D	0.639	D	0.81	4.828	27.4	4.93	2.714	4.793	16.029	0.577	0.0926760500228	.	.	8.254e-06	0	8.672e-05	0	0	0	0	0	6.5e-06	1	154602	rs764997031	2.745e-06	2.736e-06	1.365e-06	4.138e-06	4.671e-05	6.4e-07	4.3e-07	1.59e-05	9.35e-06	0	0	0	0	0	0	0	0	4.671e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.0	0.92824	D	0.936	0.52359	P	0.903	0.64103	P	0.000194	0.48115	D	0.000000	0.999878	0.50225	D	2.925	0.84406	M	-0.76	0.73417	T	-3.73	0.70920	D	0.656	0.70000	0.359	0.88471	D	0.639	0.87383	D	10	0.8069637	0.80024	D	0.092676	0.75935	D	0.577	0.82912	0.432	0.48171	0.916894380365	0.91605	0.8407779912869563	0.84037	0.655275449907	0.58575	0.457243800163	0.32933	T	0.519186	0.83153	D	0.130757	0.67435	D	0.0506773	0.73628	D	0.980665981769562	0.73482	D	0.985801	0.95194	D	0.35183078	0.57209	0.3267241	0.58576	0.35183078	0.57209	0.3267241	0.58576	-7.563	0.58422	D	.	.	0.155	0.38025	B	.;.	.;.	4.516458	0.70779	25.6	0.99912965766637074	0.98167	0.93505	0.58400	D	AEFBI	0.509988	0.53922	D	0.801185165087113	0.86181	8.803491	0.734275130287393	0.84979	8.445459	0.999992803729126	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.93	4.93	0.64394	4.979000	0.63525	7.394000	0.58531	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:1.0:0.0:0.0	16.029	0.80362	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1193.98	41	chr3	109069732	.	C	T	1193.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.037;DP=854;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=-1.571e+00;SOR=0.706	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr3	109330583	109330583	G	A	exonic	DPPA4	.	nonsynonymous SNV	DPPA4:NM_001348928:exon5:c.C464T:p.A155V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.836	P	0.106	B	0.177	N	1.000	N	1.055	L	0.69	T	-0.914	T	0.092	T	0.155	1.545	11.12	-0.021	-0.016	0.108	13.714	0.095	0.0120361047287	.	.	7.448e-05	0	8.642e-05	0	0	0.0001	0	6.056e-05	5.82e-05	9	154602	rs201448153	9.098e-05	9.098e-05	9.801e-05	8.388e-05	0.0001	7.823e-05	7.305e-05	9.291e-05	8.698e-05	0	2.236e-05	0	5.038e-05	0	0	0.0001	0.0001	2.319e-05	1.316e-05	1.314e-05	2.572e-05	0	6.554e-05	2.19e-06	8.2e-07	.	.	0	0	6.554e-05	0	0	0	0	1.471e-05	0	0	0.028	0.46129	D	0.054	0.47097	T	0.465	0.36447	P	0.033	0.22329	B	0.176685	0.03152	N	1.657340	0.999913	0.19599	N	2.07	0.56829	M	0.69	0.51714	T	-3.17	0.64363	D	0.263	0.29774	-0.9141	0.46338	T	0.092	0.34983	T	9	0.24623531	0.41884	T	0.012036	0.30251	T	0.095	0.27398	0.444	0.50139	0.43848807779	0.43467	0.18085071281490878	0.18004	0.0924723573762	0.10434	0.414556384087	0.27086	T	0.462533	0.79885	T	-0.330652	0.06063	T	-0.487033	0.23703	T	0.186117172241211	0.19613	T	0.680032	0.28847	T	0.21373661	0.43760	0.17371295	0.39716	0.21373661	0.43760	0.17371295	0.39715	-4.702	0.33428	T	.	.	0.328	0.55067	B	.	.	2.011733	0.25564	16.81	0.98825432372745214	0.46852	0.11202	0.16476	N	AEFDBCI	0.071757	0.14298	N	-0.634524080444382	0.17914	0.9258899	-0.700686630337381	0.16943	0.8986913	0.777991148915471	0.23786	0.645754	0.44609	0	0.573888	0.26702	0	0.696144	0.63334	0	0.564101	0.26826	0	.	.	4.04	-0.021	0.13278	0.146000	0.16000	1.225000	0.25003	0.614000	0.49286	0.114000	0.23067	0.017000	0.20586	0.685000	0.33688	0.0:0.6326:0.3674:0.0	13.714	0.62166	883	0.28872	Developmental pluripotency-associated protein 2/4, central domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1301.98	36	chr3	109330583	.	G	A	1301.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.723;DP=914;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.22;ReadPosRankSum=-1.822e+00;SOR=0.635	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	20	0	1	0
chr3	111708063	111708063	A	C	exonic	PLCXD2	.	nonsynonymous SNV	PLCXD2:NM_001185106:exon2:c.A301C:p.T101P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.99	D	.	.	1.000	D	1.545	L	-0.01	T	-0.351	T	0.364	T	0.881	4.126	21.3	5.77	2.326	8.910	14.329	0.511	0.0275867424969	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1204631373	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.987e-05	2.3e-07	9e-08	.	.	2.987e-05	0	0	0	0	0	8.993e-07	0	0	6.57e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.134	0.40832	T	0.13	0.36365	T	1.0	0.90584	D	0.984	0.78936	D	.	.	.	.	0.999893	0.50595	D	1.22	0.30592	L	-0.01	0.62762	T	-2.74	0.58248	D	0.705	0.70966	-0.3506	0.73536	T	0.364	0.72506	T	9	0.8086983	0.80178	D	0.027587	0.50382	D	0.511	0.79033	0.624	0.75916	0.372993862945	0.36913	0.6382892789219197	0.63762	0.59830580156	0.55004	0.629924356937	0.57134	T	0.225463	0.59020	T	0.280105	0.81325	D	0.164575	0.81084	D	0.954455018043518	0.64269	D	0.823718	0.48487	T	0.45070395	0.64085	0.50336045	0.71291	0.45070395	0.64086	0.50336045	0.71292	-6.542	0.50770	T	.	.	0.451	0.62246	A	.;.;.	.;.;.	4.341106	0.66595	25.0	0.99511101258886447	0.68618	0.99234	0.93208	D	AEFGI	0.936138	0.93201	D	0.771812335304487	0.84315	8.253868	0.789893038765085	0.89082	9.831094	0.999999997595092	0.74766	0.651	0.46895	0	0.588066	0.40923	0	0.618467	0.43123	0	0.683762	0.67416	0	.	.	5.77	5.77	0.91077	8.911000	0.92272	11.180000	0.88279	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.329	0.66099	631	0.64944	Phosphatidylinositol-specific phospholipase C, X domain|Phosphatidylinositol-specific phospholipase C, X domain;.;Phosphatidylinositol-specific phospholipase C, X domain|Phosphatidylinositol-specific phospholipase C, X domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1696.98	35	chr3	111708063	.	A	C	1696.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.343;DP=851;ExcessHet=0.0000;FS=2.127;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=0.092;SOR=0.524	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1140	20	0	1	0
chr3	111884943	111884943	A	G	exonic	PHLDB2	.	nonsynonymous SNV	PHLDB2:NM_001134438:exon2:c.A866G:p.K289R	.	.	.	.	.	.	.	.	.	.	.	2384595	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.57	T	0.412	B	0.292	B	0.000	D	1.000	N	1.5	L	1.42	T	-1.013	T	0.080	T	0.456	2.187	13.27	4.24	0.992	2.330	9.359	0.071	0.0056147470251	7.7e-05	0.000199681	5.771e-05	0.0002	0	0	0	7.498e-05	0	0	5.17e-05	8	154602	rs201171421	5.404e-05	5.404e-05	5.037e-05	5.775e-05	0.0014	4.41e-05	4.082e-05	0.0007	0.0005	0.0006	2.236e-05	0	0	0	0.0014	3.507e-05	0.0001	4.637e-05	8.537e-05	8.53e-05	6.425e-05	0.0001	0.0002	4.955e-05	3.961e-05	0.0001	8.433e-05	0.0002	0	0	0	0	0	0	4.411e-05	0.0005	0	0.163	0.27426	T	0.912	0.45318	T	0.006	0.35138	B	0.009	0.40739	B	0.000013	0.62929	D	0.149524	0.744116	0.29705	N	1.265	0.31966	L	1.37	0.34253	T	-0.17	0.27876	N	0.28	0.31702	-1.0127	0.26070	T	0.080	0.31765	T	10	0.04632309	0.03809	T	0.005615	0.14500	T	0.071	0.20720	.	.	0.563619085548	0.56024	0.20648886737180056	0.20564	0.0754955918741	0.08473	0.384101569653	0.22836	T	0.006814	0.12902	T	-0.251836	0.13873	T	-0.396868	0.33749	T	0.0430634766817093	0.04249	T	0.80112	0.44691	T	0.025320772	0.01457	0.047346596	0.06801	0.025320772	0.01457	0.047346596	0.06801	-3.444	0.15656	T	.	.	0.103	0.18828	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.973637	0.25071	16.63	0.99507911183305142	0.68440	0.78806	0.38937	D	AEFGBCI	0.219848	0.34468	N	-0.211032873914839	0.32681	1.845692	-0.0596495867924802	0.37075	2.165994	0.999974796341369	0.50053	0.706548	0.73137	0	0.59043	0.45803	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.4	4.24	0.49486	2.321000	0.43465	6.160000	0.54327	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9166:0.0:0.0834:0.0	9.359	0.37346	587	0.69154	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1330.98	39	chr3	111884943	.	A	G	1330.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.798e+00;DP=825;ExcessHet=0.0000;FS=3.471;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=1.09;SOR=0.654	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1141	20	0	1	0
chr3	111885120	111885125	CCTGTG	-	exonic	PHLDB2	.	nonframeshift deletion	PHLDB2:NM_001134438:exon2:c.1043_1048del:p.C349_A350del	.	.	426	1041	53	2	0	57	0.026648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0029	0.0061901	0.0067	0.0003	0.0016	0.0006	0.0002	0.0036	0.0066	0.0325	0.0006916	18	26028	rs562210962	0.0051	0.0051	0.0040	0.0061	0.0357	0.0050	0.0049	0.0347	0.0342	0.0006	0.0019	0.0004	0.0002	0.0002	0.0123	0.0034	0.0056	0.0357	0.0032	0.0032	0.0026	0.0039	0.0361	0.0030	0.0029	0.0317	0.0301	0.0006	0	0.0034	0	0.0008	0.0003	0.0068	0.0033	0.0028	0.0361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3647.07	39	chr3	111885119	.	TCCTGTG	T	3647.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.14;DP=930;ExcessHet=0.1072;FS=1.633;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=16.50;ReadPosRankSum=0.375;SOR=0.809	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1141	19	0	2	0
chr3	111913569	111913569	G	C	exonic	PHLDB2	.	nonsynonymous SNV	PHLDB2:NM_001134438:exon3:c.G1586C:p.S529T	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.001	B	0.004	B	0.422	N	0.619	N	0.205	N	1.49	T	-1.031	T	0.014	T	0.231	0.558	7.020	-0.978	-0.157	-0.160	7.452	0.021	.	0.0103	0.00958466	0.0031	0.0322	0.0021	0	0	0.0002	0.0022	6.057e-05	0.0029172	451	154602	rs75096697	0.0010	0.0010	0.0011	0.0008	0.0322	0.0009	0.0009	0.0306	0.0300	0.0322	0.0018	0	0	0	0.0036	8.813e-05	0.0021	0.0002	0.0091	0.0092	0.0091	0.0091	0.0313	0.0087	0.0086	0.0299	0.0293	0.0313	0	0.0041	0	0	0	0.0034	0.0001	0.0076	0.0002	0.479	0.12961	T	0.736	0.14241	T	0.0	0.07471	B	0.003	0.10090	B	0.422002	0.04653	N	1.263880	0.999967	0.18878	N	-0.345	0.03330	N	1.46	0.33412	T	-0.63	0.21860	N	0.113	0.11769	-1.0308	0.20195	T	0.014	0.05417	T	10	0.0019050837	0.00026	T	.	.	.	0.021	0.04004	.	.	0.28722502521	0.28325	0.16873633379753655	0.16793	0.0833550312895	0.09400	0.359975218773	0.19382	T	0.005253	0.16130	T	-0.566421	0.00232	T	-0.562716	0.16123	T	0.00124588225523636	0.00012	T	0.612239	0.23293	T	0.07009185	0.15409	0.03312377	0.02156	0.07009185	0.15409	0.03312377	0.02156	-4.733	0.35214	T	.	.	0.067	0.03661	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.280500	0.06573	3.063	0.82004509776895718	0.13970	0.05786	0.11720	N	AEFDGBI	0.053999	0.09779	N	-0.996821715854038	0.08671	0.4074583	-0.918050470763418	0.11669	0.5958593	0.999912412645064	0.45857	0.741868	0.97996	0	0.563428	0.19063	0	0.774882	0.98623	0	0.714379	0.83352	0	.	.	5.64	-0.978	0.09754	-0.109000	0.10810	0.450000	0.18513	0.676000	0.76740	0.001000	0.13787	0.000000	0.08366	0.917000	0.45243	0.2454:0.4836:0.271:0.0	7.452	0.26413	586	0.69252	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2204.98	33	chr3	111913569	.	G	C	2204.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.644;DP=895;ExcessHet=0.0000;FS=4.414;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=0.805;SOR=0.778	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr3	111962226	111962226	G	C	exonic	PHLDB2	.	nonsynonymous SNV	PHLDB2:NM_145753:exon12:c.G2862C:p.K954N	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.947	P	0.95	D	0.000	D	1.000	D	1.61	L	-1.1	T	-0.094	T	0.517	D	0.348	2.149	13.14	5.1	1.496	3.728	13.759	0.232	0.0559229318279	7.7e-05	.	8.249e-06	0	0	0	0	1.5e-05	0	0	1.29e-05	2	154602	rs373362783	6.164e-05	6.225e-05	6.548e-05	5.775e-05	0.0002	5.08e-05	4.737e-05	6.463e-05	5.959e-05	0	0	0	0	0	0.0002	7.798e-05	1.694e-05	0	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.058	0.37750	T	0.442	0.13252	T	0.024	0.20876	B	0.008	0.23607	B	0.000010	0.62929	D	0.113192	0.95756	0.38030	D	0.915	0.23335	L	-1.1	0.77336	T	-0.02	0.13418	N	0.463	0.53269	-0.0938	0.80241	T	0.517	0.81908	D	10	0.20904532	0.37254	T	0.055923	0.66415	D	0.232	0.53354	0.203	0.11797	0.80904478547	0.80725	0.30902759062559415	0.30815	0.108778798742	0.12267	0.717550635338	0.69690	T	0.006793	0.10227	T	-0.0760964	0.40346	T	-0.232129	0.51566	T	0.416476011276245	0.29560	T	0.917608	0.70392	D	0.14024718	0.32365	0.14205018	0.33808	0.14024718	0.32365	0.14205018	0.33807	-12.905	0.90529	D	.	.	0.533	0.68999	A	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.033045	0.40636	21.2	0.99408767937283327	0.63169	0.93832	0.59319	D	AEFGBCI	0.654486	0.62715	D	0.0520007836491433	0.44233	2.701229	0.197084654955424	0.49685	3.168956	0.99999985985611	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.99	5.1	0.68917	4.080000	0.57342	5.734000	0.49537	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.8461:0.1539	13.759	0.62439	580	0.69689	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1918.98	33	chr3	111962226	.	G	C	1918.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.760e+00;DP=858;ExcessHet=0.0000;FS=1.883;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.97;ReadPosRankSum=0.103;SOR=0.544	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1238	20	0	1	0
chr3	112045922	112045922	A	C	exonic	TMPRSS7	.	nonsynonymous SNV	TMPRSS7:NM_001366279:exon3:c.A259C:p.M87L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.93	T	0.001	B	0.001	B	.	.	0.600	D	0	N	1.54	T	-0.992	T	0.029	T	0.284	1.266	10.13	2.62	0.450	4.469	6.836	0.083	0.00397202801934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.429e-06	1.368e-06	1.41e-06	1.449e-06	2.798e-05	2.4e-07	9e-08	.	.	0	0	0	2.798e-05	0	0	9.268e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.694	0.30515	T	1.0	0.92824	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	0.599656	0.32527	D	1.78	0.46185	L	1.54	0.30133	T	-0.63	0.42191	N	0.212	0.24385	-0.9924	0.31985	T	0.029	0.12541	T	9	0.12578726	0.23907	T	0.003972	0.09400	T	0.083	0.24192	0.438	0.49157	0.337378238328	0.33340	0.2620868025208595	0.26121	0.06861527833	0.07686	0.593830227852	0.52034	T	0.008146	0.07496	T	-0.196443	0.21319	T	-0.519953	0.20300	T	0.218978621948458	0.21413	T	0.746525	0.36724	T	0.08349301	0.19283	0.120602556	0.29105	0.08349301	0.19283	0.120602556	0.29104	-1.671	0.03997	T	.	.	0.125	0.47349	B	.;.;.;.	.;.;.;.	2.066850	0.26282	17.06	0.816708228257637	0.13801	0.95967	0.66935	D	AEFGI	0.551689	0.56366	D	-0.528437191765519	0.21165	1.121231	-0.316326976694722	0.27570	1.530826	0.0861242388140467	0.16000	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.06	2.62	0.30337	4.685000	0.61381	3.945000	0.40631	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.6953:0.1558:0.0:0.1489	6.836	0.23118	714	0.56256	SEA domain;.;.;SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1924.98	34	chr3	112045922	.	A	C	1924.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.068;DP=825;ExcessHet=0.0000;FS=2.345;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.92;ReadPosRankSum=1.79;SOR=0.480	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1270	20	0	1	0
chr3	112080982	112080982	-	A	exonic	TMPRSS7	.	frameshift insertion	TMPRSS7:NM_001042575:exon16:c.2053dupA:p.S685Kfs*27	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2101.94	116	chr3	112080982	.	T	TA	2101.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.280e-01;DP=827;ExcessHet=0.0000;FS=0.700;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.12;ReadPosRankSum=1.03;SOR=0.586	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1248	20	0	1	0
chr3	112126994	112126994	T	G	exonic	GCSAM	.	nonsynonymous SNV	GCSAM:NM_001190260:exon3:c.A138C:p.Q46H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.103	B	0.085	B	0.333	N	1.000	N	0.55	N	.	.	-1.032	T	0.028	T	0.252	2.194	13.29	-0.414	-0.050	0.025	0.853	0.039	.	0.0002	0.00399361	0.0013	0	0	0.0174	0	4.52e-05	0.0011	0.0003	0.0012354	191	154602	rs74831119	0.0006	0.0006	0.0006	0.0006	0.0195	0.0006	0.0006	0.0183	0.0179	0	0	0	0.0195	3.748e-05	0.0002	3.571e-05	0.0007	0.0003	0.0007	0.0007	0.0005	0.0009	0.0191	0.0006	0.0006	0.0160	0.0149	0	0	0	0	0.0191	0	0	4.41e-05	0.0005	0.0019	0.085	0.33254	T	0.14	0.33666	T	0.103	0.25884	B	0.085	0.29395	B	0.333358	0.04144	N	1.478470	1	0.08975	N	1.445	0.36358	L	.	.	.	-1.75	0.49352	N	0.224	0.32481	-1.0315	0.19970	T	0.028	0.11926	T	9	0.002620846	0.00040	T	.	.	.	0.039	0.10176	0.107	0.01868	0.0551355673512	0.04727	0.05094661677769747	0.05036	0.574526423145	0.53482	0.216872990131	0.01137	T	0.176057	0.52586	T	-0.494201	0.00616	T	-0.469688	0.25551	T	0.0188061930268627	0.00591	T	.	.	.	0.06024162	0.12337	0.06429073	0.12864	0.06024162	0.12337	0.06429073	0.12864	-4.414	0.30692	T	0.22054275236106247	0.29732	0.159	0.36355	B	.;.;.;.;.	.;.;.;.;.	1.076365	0.14590	11.15	0.98531162043900555	0.42595	0.08162	0.14126	N	AEFDBCI	0.070243	0.13937	N	-1.13298851662832	0.06064	0.278175	-1.17056193406193	0.06406	0.308271	0.999999492952914	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.468601	0.07175	0	0.564101	0.26826	0	.	.	4.79	-0.414	0.11743	0.017000	0.13294	-0.527000	0.08657	-0.123000	0.13640	0.001000	0.13787	0.000000	0.08366	0.156000	0.20513	0.1587:0.1767:0.1651:0.4994	0.853	0.01102	830	0.39242	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1017.98	34	chr3	112126994	.	T	G	1017.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.048;DP=791;ExcessHet=0.0000;FS=3.071;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=-9.510e-01;SOR=0.999	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,101,1470	20	0	1	0
chr3	112169290	112169290	A	T	exonic	SLC9C1	.	nonsynonymous SNV	SLC9C1:NM_001320531:exon23:c.T2814A:p.F938L	.	.	435	1084	3	0	0	3	0.00138185	.	.	697750	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.25	T	0.999	D	0.996	D	0.000	N	1.000	N	0.89	L	-2.88	D	-0.029	T	0.674	D	0.432	3.322	17.17	3.39	0.438	4.908	10.268	0.432	.	0.0047	0.00359425	0.0064	0.0012	0.0017	0	0.0059	0.0093	0.0089	0.0046	0.0064941	1004	154602	rs144423530	0.0077	0.0077	0.0077	0.0078	0.0089	0.0076	0.0076	0.0088	0.0087	0.0006	0.0035	0.0016	0	0.0076	0.0017	0.0089	0.0057	0.0048	0.0061	0.0061	0.0060	0.0063	0.0098	0.0058	0.0057	0.0092	0.0090	0.0012	0.0033	0.0072	0.0014	0.0004	0.0067	0	0.0098	0.0038	0.0039	0.011	0.55530	D	0.0	0.92824	D	0.999	0.77913	D	0.996	0.84481	D	0.000211	0.47681	N	0.093937	0.999951	0.19072	N	1.52	0.38360	L	-2.88	0.91533	D	-4.91	0.83557	D	0.694	0.69913	-0.0293	0.81645	T	0.674	0.88696	D	10	0.015887707	0.00334	T	.	.	.	0.432	0.73807	0.679	0.81691	0.589131389434	0.58588	0.4557867718362405	0.45496	0.386311765763	0.39923	0.53951561451	0.44377	T	0.53721	0.84089	D	-0.255318	0.13454	T	-0.127846	0.61154	T	0.0535679611152521	0.06117	T	.	.	.	0.38036737	0.59343	0.32286474	0.58223	0.38036737	0.59344	0.32286474	0.58222	-5.903	0.46028	T	.	.	0.742	0.76179	P	.;.	.;.	2.936961	0.39040	20.9	0.98761635769132106	0.45816	0.72887	0.35662	D	AEFI	0.479784	0.52178	N	-0.147937583161936	0.35323	2.027414	-0.232042399387118	0.30396	1.711011	4.39839553939223E-4	0.06970	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.83	3.39	0.37919	4.949000	0.63298	3.636000	0.39331	-0.118000	0.14412	0.998000	0.41325	0.993000	0.31925	0.094000	0.17991	0.6796:0.3204:0.0:0.0	10.268	0.42646	830	0.39242	Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1423.98	35	chr3	112169290	.	A	T	1423.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.735e+00;DP=842;ExcessHet=0.0000;FS=6.272;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.60;ReadPosRankSum=-9.290e-01;SOR=0.322	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr3	112231407	112231407	G	C	exonic	SLC9C1	.	nonsynonymous SNV	SLC9C1:NM_001320531:exon12:c.C1382G:p.T461S	.	.	0	225	1	0	0	1	0.00221729	.	.	2336993	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.7	T	0.013	B	0.02	B	0.887	N	1.000	N	0.345	N	-1.06	T	-0.956	T	0.184	T	0.027	-0.680	1.037	-3.51	-0.350	0.211	5.970	0.171	0.0250466349223	0.0002	.	0.0002	9.86e-05	0.0005	0	0	0.0003	0	0.0001	0.0001876	29	154602	rs199776585	0.0001	0.0001	9.942e-05	0.0001	0.0010	9.271e-05	8.735e-05	0.0005	0.0003	5.978e-05	0.0005	0	0	0	0.0010	9.625e-05	0.0002	5.801e-05	0.0002	0.0002	0.0002	0.0001	0.0005	0.0001	0.0001	0.0003	0.0002	0.0002	0	0.0005	0	0	0	0	0.0002	0	0	0.496	0.08140	T	0.046	0.49120	D	0.013	0.16609	B	0.006	0.19048	B	0.887102	0.07271	N	1.055120	1	0.08975	N	0.55	0.14455	N	-1.06	0.76948	T	-0.76	0.21860	N	0.124	0.18784	-0.9559	0.39934	T	0.184	0.53270	T	10	0.027735054	0.00914	T	0.025047	0.48032	D	0.171	0.43483	0.306	0.27646	0.180583059064	0.17676	0.13441270517842951	0.13365	0.0540331048797	0.05968	0.313136875629	0.12381	T	0.01921	0.15347	T	-0.500469	0.00568	T	-0.602632	0.12591	T	0.00289785158821794	0.00030	T	.	.	.	0.03771659	0.04888	0.03396589	0.02380	0.03771659	0.04887	0.03396589	0.02380	-3.343	0.14298	T	.	.	0.101	0.19478	B	.;.	.;.	-0.311033	0.02568	0.313	0.45610157817257957	0.03592	0.03968	0.09377	N	AEFI	0.081772	0.16550	N	-1.57558854590961	0.01391	0.06063206	-1.5483833061952	0.01987	0.090772	5.5628593511146E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.44	-3.51	0.04397	0.306000	0.19030	-0.145000	0.11477	-0.687000	0.04166	0.636000	0.28050	0.000000	0.08366	0.237000	0.22922	0.3511:0.0:0.4923:0.1566	5.970	0.18584	656	0.62345	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	991.98	40	chr3	112231407	.	G	C	991.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.160;DP=783;ExcessHet=0.0000;FS=1.739;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=-3.800e-02;SOR=0.754	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1147	20	0	1	0
chr3	112264236	112264236	T	G	exonic	SLC9C1	.	nonsynonymous SNV	SLC9C1:NM_183061:exon9:c.A986C:p.Y329S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.999	D	0.955	D	0.007	N	1.000	D	1.735	L	2.46	T	-1.112	T	0.083	T	0.634	2.847	15.48	4.8	1.050	2.594	8.873	0.243	0.0331758619903	.	.	5.203e-05	0	0	0	0	0.0001	0	0	1.29e-05	2	154602	rs779280371	1.557e-05	1.375e-05	1.201e-05	1.919e-05	0.0002	9.73e-06	8.03e-06	6.7e-06	4.69e-06	0	0	0	0	0	0.0002	1.196e-05	8.452e-05	4.043e-05	1.976e-05	1.97e-05	2.575e-05	1.349e-05	4.424e-05	5.25e-06	2.46e-06	1.175e-05	6.26e-06	0	0	0	0	0	0	0	4.424e-05	0	0	0.002	0.72154	D	0.0	0.92824	D	0.999	0.77913	D	0.955	0.69585	D	0.006681	0.31877	N	0.222293	1	0.81001	D	2.215	0.62545	M	2.46	0.14907	T	-6.49	0.91564	D	0.509	0.54059	-1.1120	0.02903	T	0.083	0.32440	T	10	0.44379628	0.58268	T	0.033176	0.54798	D	0.243	0.54921	.	.	0.356281029322	0.35234	0.5268391540145058	0.52607	0.402490943859	0.41201	0.489384591579	0.37353	T	0.199304	0.55655	T	-0.187411	0.22639	T	-0.316597	0.42946	T	0.769926249980927	0.44435	D	.	.	.	0.5979427	0.72581	0.7296259	0.84025	0.5979427	0.72582	0.7296259	0.84026	-6.693	0.51758	T	.	.	0.177	0.38729	B	.	.	3.424886	0.47571	22.5	0.98828116294160551	0.46902	0.82525	0.41740	D	AEFI	0.327366	0.42836	N	0.428138835470739	0.62974	4.522592	0.396178204800038	0.61329	4.331479	8.79508387765871E-4	0.07946	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.96	4.8	0.61157	2.432000	0.44442	4.993000	0.46541	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.743000	0.35541	0.1866:0.0:0.0:0.8134	8.873	0.34483	541	0.72942	Cation/H+ exchanger	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	681.98	35	chr3	112264236	.	T	G	681.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.017;DP=687;ExcessHet=0.0000;FS=1.114;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.64;ReadPosRankSum=0.344;SOR=0.512	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,990	20	0	1	0
chr3	112469802	112469802	T	C	exonic	BTLA	.	nonsynonymous SNV	BTLA:NM_001085357:exon3:c.A406G:p.K136E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.106	B	0.048	B	0.216	N	1.000	N	0.55	N	1.66	T	-1.046	T	0.047	T	0.128	-0.176	3.142	-1.0	-0.153	0.048	7.330	0.010	0.00527680408673	7.7e-05	0.000199681	0.0001	9.75e-05	8.666e-05	0	0	0.0002	0	0	0.0001229	19	154602	rs144502753	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	0.0001	0.0001	0.0001	0	4.482e-05	0	0	0	0.0005	0.0001	0.0002	0	7.89e-05	7.876e-05	5.147e-05	0.0001	0.0001	4.499e-05	3.514e-05	6.807e-05	5.089e-05	2.412e-05	0	6.551e-05	0	0	0	0	0.0001	0.0005	0	0.145	0.25154	T	0.279	0.21745	T	0.034	0.26037	B	0.017	0.24975	B	0.216443	0.16241	N	0.540328	0.999997	0.08975	N	0.55	0.14455	N	1.66	0.35405	T	-1.49	0.47852	N	0.088	0.09490	-1.0458	0.15592	T	0.047	0.20195	T	10	0.030996233	0.01288	T	0.005277	0.13494	T	0.010	0.01040	.	.	0.40722173914	0.40337	0.45948136135929807	0.45866	0.876777066871	0.69606	0.290274947882	0.08962	T	0.162769	0.50756	T	-0.46854	0.00868	T	-0.631366	0.10312	T	0.0124355415130347	0.00204	T	0.50065	0.15660	T	0.09857882	0.23254	0.07743742	0.17249	0.09857882	0.23253	0.07743742	0.17248	-5.208	0.39023	T	.	.	0.108	0.20313	B	.;.	.;.	0.482670	0.08519	5.283	0.57286884161336205	0.05736	0.05728	0.11653	N	AEFDBI	0.061663	0.11805	N	-1.1188603830318	0.06308	0.2900158	-1.14420036441014	0.06873	0.3323131	0.991143065403302	0.32388	0.631515	0.41029	0	0.697927	0.68747	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.12	-1.0	0.09675	0.041000	0.13813	-0.035000	0.12744	-0.133000	0.13014	0.263000	0.24978	0.004000	0.18990	0.010000	0.09038	0.0:0.3988:0.0:0.6012	7.330	0.25749	830	0.39242	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1080.98	33	chr3	112469802	.	T	C	1080.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.346e+00;DP=733;ExcessHet=0.0000;FS=2.469;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.44;ReadPosRankSum=-1.352e+00;SOR=0.391	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1062	20	0	1	0
chr3	112534243	112534243	C	A	exonic	ATG3	.	nonsynonymous SNV	ATG3:NM_001278712:exon11:c.G889T:p.V297L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.995	D	0.902	P	.	.	1.000	N	.	.	.	.	-0.961	T	0.164	T	0.074	2.109	13.01	0.141	-0.400	-1.107	3.739	0.050	0.00666316251855	0.0031	0.000798722	0.0024	0.0014	0.0025	0	0	0.0037	0.0022	0	0.0026649	412	154602	rs190048553	0.0040	0.0040	0.0041	0.0038	0.0048	0.0039	0.0039	0.0047	0.0046	0.0009	0.0035	0.0011	2.557e-05	0.0004	0.0016	0.0048	0.0040	8.579e-05	0.0029	0.0029	0.0031	0.0026	0.0045	0.0027	0.0026	0.0041	0.0039	0.0011	0.0022	0.0044	0.0014	0	0.0002	0.0034	0.0045	0.0052	0	0.026	0.46910	D	0.074	0.42976	T	0.995	0.67487	D	0.902	0.64047	P	.	.	.	.	0.99984	0.20152	N	.	.	.	.	.	.	-2.49	0.54217	N	0.06	0.03175	-0.9614	0.38916	T	0.164	0.50111	T	7	0.008049667	0.00183	T	0.006663	0.17585	T	0.050	0.13987	0.557	0.67547	0.182106788282	0.17826	.	.	.	.	.	.	.	.	.	.	-0.615134	0.00118	T	-0.653067	0.08741	T	0.028412199154227	0.01748	T	0.264174	0.04286	T	.	.	.	.	.	.	.	.	-2.785	0.08046	T	.	.	0.228	0.46061	B	.	.	0.006902	0.04328	1.100	0.91013392590306841	0.20263	0.07293	0.13315	N	AEFBI	0.064689	0.12576	N	-0.911072454221818	0.10582	0.5063705	-1.11080170109815	0.07493	0.3646823	0.0713208315776616	0.15562	0.706548	0.73137	0	0.724815	0.89359	0	0.54472	0.12158	0	0.491896	0.07777	0	.	.	5.08	0.141	0.14107	-0.275000	0.08557	-0.570000	0.08431	-1.995000	0.00452	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1071:0.5171:0.1049:0.2709	3.739	0.08047	762	0.50290	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1621.98	81	chr3	112534243	.	C	A	1621.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=1728;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=0.095;SOR=0.639	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	20	0	1	0
chr3	112638380	112638380	T	C	exonic	CCDC80	.	nonsynonymous SNV	CCDC80:NM_199511:exon2:c.A1526G:p.K509R	.	.	.	.	.	.	.	.	.	.	.	2435223	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	1.0	D	0.997	D	0.000	D	1.000	D	1.04	L	0.48	T	-0.730	T	0.239	T	0.587	4.728	26.3	5.26	2.213	7.057	15.335	0.153	0.0329026843479	7.7e-05	.	8.241e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs371056820	5.472e-06	5.472e-06	5.445e-06	5.5e-06	1.159e-05	2.35e-06	1.7e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.295e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.38633	T	0.094	0.39645	T	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	0.999951	0.58761	D	2.215	0.62545	M	0.48	0.55945	T	-1.06	0.27669	N	0.61	0.62696	-0.7303	0.58948	T	0.239	0.60679	T	10	0.59572953	0.66630	D	0.032903	0.54605	D	0.153	0.40148	.	.	0.838358248717	0.83681	0.3705774357248672	0.36971	0.607901423998	0.55585	0.443713247776	0.31084	T	0.026586	0.19643	T	0.0243844	0.54970	T	-0.20275	0.54385	T	0.844091295854072	0.49665	D	0.879412	0.59551	D	0.26210517	0.49271	0.16007654	0.37302	0.26210517	0.49271	0.16007654	0.37301	-2.954	0.09694	T	.	.	0.093	0.15070	B	.;.	.;.	3.849379	0.55755	23.6	0.99890973626045543	0.96513	0.99378	0.95249	D	AEFBI	0.867039	0.78667	D	0.584116952733648	0.72183	5.765775	0.60579194149626	0.75360	6.296732	0.999999999966134	0.74766	0.744818	0.98587	0	0.59043	0.45803	0	0.602189	0.34648	0	0.76194	0.99817	0	.	.	5.26	5.26	0.73479	7.031000	0.76223	4.910000	0.45943	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.335	0.73958	758	0.50837	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1462.98	35	chr3	112638380	.	T	C	1462.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.401e+00;DP=817;ExcessHet=0.0000;FS=1.500;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=-4.080e-01;SOR=0.681	GT:AD:DP:GQ:PL	0/1:59,54:113:99:1477,0,1671	20	0	1	0
chr3	112974799	112974801	AAG	-	exonic	CD200R1	.	nonframeshift deletion	CD200R1:NM_138806:exon1:c.57_59del:p.F19del	.	.	424	1067	30	1	0	32	0.0147738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00399361	0.0068	0.0012	0.0016	0	0.0008	0.0075	0.0078	0.0166	0.0012679	33	26028	rs564728039	0.0065	0.0066	0.0061	0.0069	0.0169	0.0064	0.0064	0.0162	0.0159	0.0007	0.0026	0.0067	0	0.0011	0.0082	0.0066	0.0053	0.0169	0.0044	0.0045	0.0045	0.0044	0.0162	0.0042	0.0041	0.0133	0.0122	0.0008	0	0.0032	0.0066	0.0002	0.0008	0.0068	0.0069	0.0043	0.0162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1271.94	34	chr3	112974798	.	TAAG	T	1271.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.090e-01;DP=779;ExcessHet=0.0000;FS=0.833;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.70;ReadPosRankSum=-5.840e-01;SOR=0.799	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1277	20	0	1	0
chr3	112991298	112991298	T	C	exonic	GTPBP8	.	nonsynonymous SNV	GTPBP8:NM_014170:exon1:c.T299C:p.V100A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.694	P	0.204	B	0.000	D	0.625	D	2.045	M	2.63	T	-0.757	T	0.120	T	0.315	1.766	11.87	2.0	0.463	1.726	10.660	0.112	0.0201593305982	7.8e-05	.	0.0001	0	0	0	0	0.0002	0	0	9.06e-05	14	154602	rs146180102	9.922e-05	9.919e-05	8.579e-05	0.0001	2.878e-05	8.581e-05	8.05e-05	2.082e-05	1.782e-05	0	0	0.0035	0	0	0	2.878e-05	0.0004	0	0.0001	0.0001	0.0002	0.0001	5.88e-05	8.666e-05	7.258e-05	1.972e-05	1.124e-05	0	0	0	0.0046	0	0	0	5.88e-05	0	0	0.094	0.31383	T	0.283	0.24987	T	0.067	0.41705	B	0.05	0.37039	B	0.000238	0.47286	D	0.188364	0.999904	0.19694	N	2.295	0.65404	M	2.63	0.48460	T	-1.23	0.31170	N	0.349	0.51851	-0.7572	0.57556	T	0.120	0.41907	T	10	0.017285138	0.00368	T	0.020159	0.42696	T	0.112	0.31546	.	.	0.208000267992	0.20380	0.48044594355313563	0.47964	0.176570686574	0.19871	0.479800283909	0.36029	T	0.011392	0.17048	T	-0.267749	0.12008	T	-0.442084	0.28576	T	0.0660219063307718	0.08081	T	0.728327	0.38135	T	0.062413707	0.13033	0.069794305	0.14751	0.062413707	0.13032	0.069794305	0.14750	-5.556	0.42388	T	.	.	0.257	0.59274	B	.;.;.	.;.;.	2.053799	0.26112	17.00	0.86335653632732845	0.16468	0.90180	0.51155	D	ALL	0.117125	0.22958	N	-0.348266825298972	0.27336	1.498963	-0.389938071970538	0.25295	1.390245	0.999999999999996	0.74766	0.468429	0.09910	2	0.093493	0.02558	3	0.504199	0.09095	0	0.372554	0.06265	0	.	.	5.93	2.0	0.25495	1.468000	0.34941	2.484000	0.32953	0.665000	0.62972	0.961000	0.33663	1.000000	0.68203	0.003000	0.05239	0.3636:0.0:0.0:0.6364	10.660	0.44890	469	0.78175	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	4782.98	34	chr3	112991298	.	T	C	4782.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.68;DP=1172;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=1.03;SOR=0.684	GT:AD:DP:GQ:PL	0/1:211,197:408:99:4797,0,5053	20	0	1	0
chr3	113011101	113011101	T	C	exonic	NEPRO	.	nonsynonymous SNV	NEPRO:NM_001319110:exon3:c.A356G:p.N119S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.01	B	0.007	B	0.151	N	1.000	N	0.315	N	2.58	T	-0.984	T	0.028	T	0.003	-0.804	0.665	-1.57	-0.422	-0.726	9.204	0.014	0.00279220141484	7.7e-05	0.000199681	2.49e-05	0.0002	0	0	0	1.504e-05	0	0	2.59e-05	4	154602	rs199710456	1.369e-06	1.368e-06	2.725e-06	0	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	6.564e-06	6.561e-06	1.285e-05	0	2.404e-05	0	0	.	.	2.404e-05	0	0	0	0	0	0	0	0	0	0.26	0.20381	T	0.688	0.05958	T	0.01	0.15535	B	0.007	0.12992	B	0.151300	0.02964	N	1.567360	1	0.08975	N	.	.	.	2.58	0.13916	T	-0.07	0.16187	N	0.034	0.03069	-0.9841	0.34045	T	0.028	0.11926	T	10	0.026838869	0.00841	T	0.002792	0.05810	T	0.014	0.01968	.	.	0.110078149338	0.10416	0.09106988901895784	0.09039	0.103715857113	0.11733	.	.	.	0.003288	0.02698	T	-0.528966	0.00389	T	-0.815453	0.01546	T	0.0565578096277274	0.06616	T	0.718628	0.33152	T	0.016445676	0.00198	0.01865127	0.00062	0.016445676	0.00198	0.01865127	0.00062	-2.688	0.07203	T	0.1561290248902674	0.18762	0.065	0.04356	B	.;.	.;.	-0.540151	0.01742	0.130	0.53159270238035905	0.04885	0.02421	0.06840	N	AEFBI	0.046487	0.07725	N	-1.29024383658742	0.03792	0.1700218	-1.31438631045495	0.04244	0.1997433	0.985492524634792	0.30897	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.05	-1.57	0.08055	-0.247000	0.08884	-2.306000	0.03922	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.0:0.4127:0.0:0.5873	9.204	0.36437	454	0.79125	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1395.98	36	chr3	113011101	.	T	C	1395.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=829;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.74;ReadPosRankSum=1.24;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr3	113017564	113017564	C	T	exonic	NEPRO	.	nonsynonymous SNV	NEPRO:NM_001319109:exon2:c.G145A:p.V49I	.	.	436	1040	46	0	0	46	0.0216369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.389	B	0.063	B	0.004	N	0.999	N	1.83	L	0.88	T	-1.035	T	0.051	T	0.041	1.869	12.21	0.682	-0.179	0.183	1.860	0.029	.	0.0075	0.00738818	0.0108	0.0045	0.0051	0	0.0030	0.0105	0.0110	0.0288	0.010278	1589	154602	rs140939168	0.0097	0.0097	0.0089	0.0104	0.0309	0.0095	0.0095	0.0299	0.0295	0.0039	0.0063	0.0081	0	0.0026	0.0158	0.0090	0.0093	0.0309	0.0077	0.0078	0.0074	0.0082	0.0280	0.0074	0.0072	0.0242	0.0227	0.0038	0	0.0098	0.0081	0.0002	0.0021	0.0136	0.0098	0.0071	0.0280	0.074	0.34621	T	0.086	0.44106	T	0.243	0.34565	B	0.028	0.27082	B	0.003932	0.34318	N	0.305787	0.999999	0.21260	N	.	.	.	0.88	0.46028	T	-0.31	0.20791	N	0.135	0.13198	-1.0347	0.18951	T	0.051	0.21728	T	10	0.0031413138	0.00052	T	.	.	.	0.029	0.06676	.	.	.	.	0.15106425446249683	0.15028	0.128662275284	0.14503	.	.	.	0.004073	0.03483	T	-0.649727	0.00073	T	-0.684435	0.06717	T	0.00022871083671684	0.00001	T	0.659934	0.27348	T	0.015662318	0.00150	0.027149944	0.00847	0.015662318	0.00150	0.027149944	0.00847	-3.423	0.15367	T	0.3366383189430692	0.43453	0.101	0.21466	B	.;.	.;.	0.941427	0.13173	9.672	0.91759287610629481	0.21059	0.03497	0.08668	N	AEFBI	0.040518	0.06036	N	-0.857832827103955	0.11858	0.574604	-0.932059885580029	0.11339	0.5770993	0.999405331751132	0.39524	0.732398	0.92422	0	0.581341	0.33841	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.61	0.682	0.17157	0.058000	0.14178	-0.567000	0.08447	-0.273000	0.06669	0.001000	0.13787	0.000000	0.08366	0.369000	0.26088	0.1224:0.3637:0.2865:0.2273	1.860	0.02993	438	0.80235	Domain of unknown function DUF4477;.	.	.	.	.	rs140939168	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1281.98	43	chr3	113017564	.	C	T	1281.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.74;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=0.466;SOR=0.660	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1143	20	0	1	0
chr3	113274584	113274584	C	T	exonic	BOC	.	nonsynonymous SNV	BOC:NM_001301861:exon9:c.C1444T:p.R482C	.	.	417	1103	2	0	0	2	0.000905797	.	.	3291370	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.997	D	0.000	D	1.000	D	1.735	L	1.54	T	-0.804	T	0.162	T	0.903	3.977	20.4	2.7	0.753	1.342	16.160	0.363	0.0723088074601	.	.	9.219e-05	0.0001	0	0	0	0.0002	0	0	7.76e-05	12	154602	rs138233485	9.854e-05	9.85e-05	0.0001	8.804e-05	0.0002	8.514e-05	7.984e-05	0.0001	9.602e-05	0.0002	0	0	0	0	0.0002	0.0001	4.968e-05	0	8.533e-05	8.529e-05	6.423e-05	0.0001	0.0001	4.952e-05	3.959e-05	5.842e-05	4.239e-05	4.808e-05	0	0.0001	0	0	0	0	0.0001	0.0005	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.995	0.54099	M	1.54	0.30133	T	-3.72	0.70793	D	0.838	0.83473	-0.8045	0.54879	T	0.162	0.49748	T	10	0.8085445	0.80164	D	0.072309	0.71498	D	0.363	0.68319	.	.	0.67965922819	0.67693	0.6591606174414062	0.65853	0.997868642895	0.74309	0.672786176205	0.63234	T	0.875932	0.97359	D	0.00582601	0.52455	T	0.0350206	0.72604	D	0.678592681884766	0.39724	D	0.979335	0.92822	D	0.48750716	0.66354	0.36910674	0.62187	0.48750716	0.66355	0.36910674	0.62187	-9.588	0.71406	D	.	.	0.486	0.65395	A	.;.;.	.;.;.	3.796256	0.54670	23.5	0.99923953285270761	0.98917	0.96760	0.70792	D	AEFDBI	0.502680	0.53499	D	0.354752965521272	0.58990	4.075001	0.292934050417172	0.55125	3.67599	0.999843513629775	0.43971	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.8	2.7	0.31007	1.361000	0.33740	0.892000	0.22480	0.599000	0.40250	0.970000	0.34288	0.258000	0.23964	0.578000	0.30845	0.3901:0.6099:0.0:0.0	16.160	0.81512	561	0.71236	Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	447.98	38	chr3	113274584	.	C	T	447.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=791;ExcessHet=0.0000;FS=1.059;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.59;ReadPosRankSum=-1.760e-01;SOR=0.939	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1236	20	0	1	0
chr3	113283465	113283465	C	G	exonic	BOC	.	nonsynonymous SNV	BOC:NM_001301861:exon16:c.C2489G:p.P830R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.017	B	0.014	B	0.000	D	1.000	D	1.67	L	0.18	T	-0.923	T	0.151	T	0.459	0.969	8.954	4.07	0.820	0.741	9.152	0.176	0.0315843737034	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1299900806	6.843e-07	6.84e-07	0	1.376e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.55530	D	0.043	0.49942	D	0.005	0.14655	B	0.006	0.16862	B	0.000076	0.52346	D	0.169981	0.908865	0.36358	D	1.845	0.48678	L	0.18	0.60361	T	-1.51	0.36787	N	0.3	0.35620	-0.9231	0.45126	T	0.151	0.47926	T	10	0.24385002	0.41606	T	0.031584	0.53633	D	0.176	0.44373	0.355	0.35571	0.682699284585	0.67999	0.6543970513681344	0.65375	0.249889110604	0.27567	0.392149984837	0.23972	T	0.412583	0.76670	T	-0.0597547	0.42946	T	-0.32361	0.42176	T	0.345845639705658	0.26855	T	0.506749	0.16047	T	0.061679024	0.12799	0.0811567	0.18421	0.061679024	0.12798	0.0811567	0.18420	-4.681	0.33173	T	.	.	0.114	0.23430	B	.;.;.	.;.;.	1.230956	0.16258	12.42	0.96691339663774234	0.30737	0.73331	0.35872	D	AEFDBI	0.209376	0.33537	N	-0.803040013380249	0.13232	0.6504248	-0.770046517314544	0.15230	0.7999831	0.999144063120877	0.38563	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.85	4.07	0.46726	0.864000	0.27581	0.620000	0.20121	-0.189000	0.09497	0.040000	0.20979	0.004000	0.18990	0.034000	0.13613	0.3128:0.6167:0.0:0.0704	9.152	0.36129	563	0.71062	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	581.98	34	chr3	113283465	.	C	G	581.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.222e+00;DP=740;ExcessHet=0.0000;FS=6.755;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.41;ReadPosRankSum=-3.210e-01;SOR=0.186	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1132	20	0	1	0
chr3	113468234	113468234	G	A	exonic	SPICE1	.	nonsynonymous SNV	SPICE1:NM_001331078:exon10:c.C1060T:p.R354C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.534	P	0.097	B	0.000	D	1.000	D	2.24	M	1.27	T	-0.939	T	0.106	T	0.736	3.712	18.85	5.01	1.495	6.774	15.191	0.314	0.0466770725869	7.7e-05	.	1.651e-05	0	0	0	0	3.005e-05	0	0	1.29e-05	2	154602	rs369719870	4.515e-05	4.515e-05	4.764e-05	4.263e-05	5.486e-05	3.641e-05	3.322e-05	4.351e-05	3.944e-05	0	2.236e-05	0	0	0	0	5.486e-05	3.312e-05	2.319e-05	2.63e-05	2.627e-05	2.57e-05	2.692e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.002	0.72154	D	0.001	0.83351	D	0.534	0.37787	P	0.097	0.30390	B	0.000351	0.45440	D	0.240541	0.999871	0.50225	D	2.765	0.80766	M	1.27	0.36146	T	-5.06	0.82764	D	0.776	0.77319	-0.9394	0.42711	T	0.106	0.38709	T	10	0.7804391	0.77808	D	0.046677	0.62568	D	0.314	0.63588	.	.	0.531245695338	0.52774	0.1304085703427057	0.12965	0.485784900578	0.47451	0.555429160595	0.46622	T	0.17396	0.52301	T	0.00187995	0.51914	T	-0.104625	0.63038	T	0.907154381275177	0.56136	D	0.929807	0.74042	D	0.27684033	0.50744	0.3239535	0.58323	0.27684033	0.50744	0.3239535	0.58323	-5.283	0.39774	T	.	.	0.3	0.52985	B	.	.	4.637521	0.73792	26.0	0.9992936386811534	0.99279	0.96213	0.68055	D	AEFGBI	0.654615	0.62724	D	0.148173529479606	0.48725	3.081322	0.177944931577063	0.48642	3.077287	0.999897413661158	0.45129	0.706298	0.61202	0	0.585951	0.33947	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.88	5.01	0.66477	6.332000	0.72889	9.951000	0.82728	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.258000	0.23468	0.0675:0.0:0.9325:0.0	15.191	0.72732	202	0.92131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2033.98	33	chr3	113468234	.	G	A	2033.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.15;DP=866;ExcessHet=0.0000;FS=2.797;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.56;ReadPosRankSum=-6.230e-01;SOR=0.477	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1227	20	0	1	0
chr3	113533141	113533141	C	G	exonic	SIDT1	.	nonsynonymous SNV	SIDT1:NM_001308350:exon1:c.C120G:p.F40L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.001	B	0.003	B	0.426	N	1.000	N	0	N	2.71	T	-0.961	T	0.014	T	0.044	-0.370	2.257	-6.15	-0.970	-0.783	6.332	0.002	0.0030883955208	.	.	1.695e-05	0	0	0	0	3.061e-05	0	0	6.5e-06	1	154602	rs757374837	4.216e-06	4.104e-06	4.184e-06	4.25e-06	4.568e-06	1.52e-06	1e-06	1.34e-06	9.7e-07	0	0	0	0	0	0	4.568e-06	1.699e-05	0	6.576e-06	1.313e-05	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.648	0.04880	T	0.68	0.06109	T	0.001	0.07471	B	0.003	0.08700	B	0.426324	0.04678	N	1.432590	1	0.08975	N	0	0.06538	N	2.71	0.12055	T	0.54	0.02764	N	0.033	0.01274	-0.9608	0.39031	T	0.014	0.05608	T	10	0.04155284	0.02822	T	0.003088	0.06696	T	0.002	0.00045	0.094	0.01195	0.0138822411134	0.00435	0.259290304781361	0.25843	0.0983236163126	0.11101	0.677603363991	0.63925	T	0.010591	0.09546	T	-0.401243	0.02272	T	-0.814134	0.01574	T	0.0288040306323357	0.01807	T	0.369563	0.08694	T	0.0364572	0.04487	0.052030653	0.08493	0.0364572	0.04487	0.052030653	0.08493	-1.337	0.01461	T	.	.	0.157	0.42390	B	.;.	.;.	-0.252203	0.02835	0.395	0.45659522456723367	0.03600	0.01597	0.05185	N	AEFDGBHCI	0.062845	0.12106	N	-1.68493597343649	0.00896	0.03880228	-1.72936287357385	0.01013	0.04543716	0.99999999997547	0.74766	0.437478	0.07067	0	0.52208	0.09955	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.67	-6.15	0.01925	-0.476000	0.06671	-0.535000	0.08614	-1.852000	0.00570	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.6229:0.1996:0.1041:0.0733	6.332	0.20481	252	0.90114	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1767.98	38	chr3	113533141	.	C	G	1767.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.899;DP=939;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=-1.531e+00;SOR=0.720	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1002	20	0	1	0
chr3	113583465	113583465	T	G	exonic	SIDT1	.	nonsynonymous SNV	SIDT1:NM_001322296:exon5:c.T618G:p.D206E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	1.0	D	0.996	D	0.001	N	0.995	D	2.125	M	1.51	T	-0.995	T	0.143	T	0.446	4.248	22.1	1.5	0.327	0.773	6.942	0.205	0.0174503919386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.048	0.48594	D	1.0	0.90584	D	0.996	0.84481	D	0.001169	0.39978	N	0.174005	0.995291	0.42627	D	2.42	0.70002	M	1.51	0.30937	T	-3.1	0.63554	D	0.924	0.92784	-0.9948	0.31352	T	0.143	0.46569	T	10	0.7736213	0.77281	D	0.01745	0.39153	T	0.205	0.49236	0.521	0.62368	0.151104730317	0.14643	0.6121225369781883	0.61144	0.450685129791	0.44834	0.712487697601	0.68954	T	0.176288	0.52617	T	-0.0778141	0.40069	T	-0.349551	0.39258	T	0.934751121189009	0.60246	D	0.938506	0.76886	D	0.25029525	0.48031	0.30774605	0.56795	0.25029525	0.48031	0.30774605	0.56794	-11.287	0.81272	D	.	.	0.834	0.87006	P	.;.	.;.	3.390697	0.46947	22.4	0.99603074271032366	0.74338	0.76681	0.37627	D	AEDBI	0.260456	0.37860	N	0.313467017532917	0.56838	3.849398	0.236352403868768	0.51876	3.366551	0.00764801129954174	0.11513	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.41	1.5	0.22029	0.952000	0.28747	-0.145000	0.11477	0.609000	0.47794	1.000000	0.71638	0.754000	0.26572	0.999000	0.91618	0.0:0.1379:0.1245:0.7376	6.942	0.23675	531	0.73574	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	911.98	34	chr3	113583465	.	T	G	911.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.518e+00;DP=759;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.03;ReadPosRankSum=0.772;SOR=0.636	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1050	20	0	1	0
chr3	113657270	113657272	TGC	-	exonic	USF3	.	nonframeshift deletion	USF3:NM_001009899:exon7:c.4410_4412del:p.Q1478del,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	2/5:0,0,28,0,0,27:55:99:2196,2220,2336,1044,1181,1210,2220,2336,1181,2336,2220,2336,1181,2336,2336,1164,1178,0,1178,1178,1085	0	4	0	0
chr3	113657267	113657272	TGCTGC	-	exonic	USF3	.	nonframeshift deletion	USF3:NM_001009899:exon7:c.4410_4415del:p.Q1477_Q1478del,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	2/5:0,0,28,0,0,27:55:99:2196,2220,2336,1044,1181,1210,2220,2336,1181,2336,2220,2336,1181,2336,2336,1164,1178,0,1178,1178,1085	0	4	0	0
chr3	113657272	113657272	-	TGC	exonic	USF3	.	nonframeshift insertion	USF3:NM_001009899:exon7:c.4409_4410insGCA:p.Q1478_A1479insQ,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	2/5:0,0,28,0,0,27:55:99:2196,2220,2336,1044,1181,1210,2220,2336,1181,2336,2220,2336,1181,2336,2336,1164,1178,0,1178,1178,1085	0	4	0	0
chr3	113657272	113657272	-	TGCTGC	exonic	USF3	.	nonframeshift insertion	USF3:NM_001009899:exon7:c.4409_4410insGCAGCA:p.Q1478_A1479insQQ,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	2/5:0,0,28,0,0,27:55:99:2196,2220,2336,1044,1181,1210,2220,2336,1181,2336,2220,2336,1181,2336,2336,1164,1178,0,1178,1178,1085	0	4	0	0
chr3	113658303	113658303	C	A	exonic	USF3	.	nonsynonymous SNV	USF3:NM_001009899:exon7:c.G3379T:p.V1127L,	.	.	431	1081	10	0	0	10	0.00460405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.022	B	0.006	B	0.441	N	1.000	N	0.345	N	2.53	T	-1.050	T	0.022	T	0.2	1.661	11.51	4.5	2.560	2.392	10.372	0.033	0.0042494338169	0.0007	0.000199681	0.0013	0.0001	0.0006	0	0.0002	0.0011	0	0.0040	0.0001035	16	154602	rs190594852	0.0008	0.0008	0.0007	0.0010	0.0049	0.0008	0.0008	0.0035	0.0034	0.0005	0.0010	0.0050	2.519e-05	9.363e-05	0.0049	0.0005	0.0011	0.0038	0.0006	0.0006	0.0005	0.0008	0.0031	0.0005	0.0005	0.0019	0.0016	4.81e-05	0	0.0005	0.0040	0.0004	0.0002	0	0.0007	0.0014	0.0031	0.1	0.30515	T	0.038	0.51421	D	.	.	.	.	.	.	0.441325	0.12623	N	0.751809	1	0.81001	D	.	.	.	2.53	0.14038	T	-0.06	0.07882	N	0.136	0.19459	-1.0498	0.14453	T	0.022	0.09421	T	10	0.0076808333	0.00175	T	0.004249	0.10278	T	0.033	0.08068	0.288	0.24761	0.043077524339	0.03247	0.16506269001789767	0.16426	0.0994875839589	0.11235	0.402110487223	0.25363	T	.	.	.	-0.560605	0.00252	T	-0.577917	0.14731	T	0.0159754041792769	0.00379	T	0.841716	0.51747	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.43693	B	.;.	.;.	2.903746	0.38494	20.7	0.9818134986408128	0.38950	0.79574	0.39457	D	AEFBI	0.093859	0.18985	N	-0.162564984188763	0.34702	1.983933	0.0447674087125668	0.41820	2.518851	0.987002273272507	0.31166	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.43	4.5	0.54382	2.416000	0.44298	3.351000	0.37785	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.987000	0.62547	0.1826:0.6966:0.1208:0.0	10.372	0.43243	439	0.80177	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2400.98	41	chr3	113658303	.	C	A	2400.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.387;DP=1567;ExcessHet=0.0000;FS=1.895;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=-2.920e-01;SOR=0.552	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,103,1800	20	0	1	0
chr3	113659707	113659707	G	T	exonic	USF3	.	nonsynonymous SNV	USF3:NM_001009899:exon7:c.C1975A:p.Q659K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.068	B	0.025	B	0.000	D	1.000	D	0.975	L	2.38	T	-1.065	T	0.032	T	0.43	2.605	14.67	5.27	2.449	4.107	12.267	0.024	0.0053989794535	.	.	8.28e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs114317459	3.42e-06	4.104e-06	2.722e-06	4.125e-06	2.236e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	0	2.236e-05	0	0	0	0	3.597e-06	0	0	6.568e-06	6.566e-06	1.284e-05	0	6.546e-05	0	0	.	.	0	0	6.546e-05	0	0	0	0	0	0	0	0.016	0.51853	D	0.313	0.19539	T	.	.	.	.	.	.	0.000395	0.44960	D	0.162990	0.998035	0.81001	D	.	.	.	2.38	0.15843	T	-1.2	0.30555	N	0.451	0.49055	-1.0647	0.10619	T	0.032	0.13898	T	10	0.14693269	0.27849	T	0.005399	0.13862	T	0.024	0.04979	0.23	0.15705	0.043077524339	0.03247	0.40523914324004845	0.40439	0.536506915969	0.50979	0.397332727909	0.24698	T	.	.	.	-0.171886	0.24948	T	-0.401813	0.33173	T	0.635149121284485	0.37832	D	0.459554	0.13284	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.40180	B	.;.	.;.	4.332318	0.66395	25.0	0.99305528457359238	0.58795	0.94010	0.59842	D	AEFBI	0.313121	0.41837	N	-0.0533215290235749	0.39453	2.326901	0.140597839537599	0.46646	2.907241	0.999995610878864	0.74766	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.27	5.27	0.73797	6.162000	0.71691	11.905000	0.99459	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0779:0.0:0.9221:0.0	12.267	0.54001	434	0.80536	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3150.98	41	chr3	113659707	.	G	T	3150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.201;DP=1632;ExcessHet=0.0000;FS=4.047;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.68;ReadPosRankSum=0.189;SOR=0.986	GT:AD:DP:GQ:PL	0/1:91,110:201:99:3165,0,2425	20	0	1	0
chr3	113904197	113904197	G	T	exonic	GRAMD1C	.	nonsynonymous SNV	GRAMD1C:NM_001172105:exon3:c.G99T:p.K33N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.18	B	0.03	B	0.026	N	1.000	D	1.895	L	1.4	T	-1.031	T	0.120	T	0.122	2.508	14.35	-1.3	-0.159	0.934	6.048	0.096	0.00894242003684	.	.	8.247e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs763142006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.41915	T	0.223	0.58613	T	0.18	0.29046	B	0.03	0.21741	B	0.026485	0.01650	N	2.250090	0.999931	0.51612	D	.	.	.	1.4	0.53088	T	-1.91	0.48850	N	0.179	0.23253	-1.0307	0.20227	T	0.120	0.41907	T	10	0.123699516	0.23486	T	0.008942	0.23559	T	0.096	0.27654	0.197	0.10975	0.306695030598	0.30287	0.18577776860932904	0.18495	0.21833863742	0.24371	0.47272670269	0.35055	T	0.013021	0.13807	T	-0.187029	0.22696	T	-0.50643	0.21683	T	0.46289125084877	0.31271	T	0.766723	0.39447	T	0.11931122	0.28096	0.10249067	0.24565	0.11931122	0.28096	0.10249067	0.24565	-3.789	0.25863	T	.	.	0.194	0.49759	B	.;.;.;.	.;.;.;.	2.630716	0.34205	19.56	0.99532164690393721	0.69963	0.50845	0.28757	D	AEFI	0.156606	0.28200	N	-0.415242632139436	0.24934	1.349937	-0.345296575005169	0.26655	1.473697	1.2324373963743E-4	0.05386	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.72	-1.3	0.08777	1.240000	0.32334	1.576000	0.27446	0.676000	0.76740	0.984000	0.35821	1.000000	0.68203	0.998000	0.85391	0.4609:0.1343:0.4048:0.0	6.048	0.18997	591	0.68823	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	766.98	35	chr3	113904197	.	G	T	766.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.100e-01;DP=798;ExcessHet=0.0000;FS=0.801;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.91;ReadPosRankSum=-8.520e-01;SOR=0.843	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1251	20	0	1	0
chr3	113938115	113938115	G	A	exonic	GRAMD1C	.	nonsynonymous SNV	GRAMD1C:NM_001172105:exon10:c.G1048A:p.V350I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.0	B	0.0	B	0.580	N	1.000	N	0	N	1.62	T	-1.053	T	0.014	T	0.162	0.171	4.920	0.525	-0.389	0.573	8.248	0.020	.	0.0069	0.00998403	0.0032	0.0281	0.0029	0	0	0.0003	0.0014	0	0.0023803	368	154602	rs79673945	0.0008	0.0008	0.0008	0.0007	0.0247	0.0007	0.0007	0.0233	0.0227	0.0247	0.0016	0	7.85e-05	0	0.0020	0.0001	0.0014	0	0.0072	0.0072	0.0074	0.0070	0.0247	0.0069	0.0067	0.0234	0.0229	0.0247	0	0.0024	0	0	0	0.0068	0.0004	0.0047	0	0.445	0.09128	T	0.691	0.10317	T	0.0	0.02946	B	0.0	0.01387	B	0.579589	0.11157	N	0.817937	1	0.08975	N	.	.	.	1.62	0.41392	T	-0.3	0.12472	N	0.06	0.05162	-1.0530	0.13574	T	0.014	0.05369	T	10	0.0031518936	0.00053	T	.	.	.	0.020	0.03691	.	.	0.0482279557977	0.04254	0.1562697881158341	0.15547	0.116920679442	0.13183	0.265746593475	0.05595	T	0.00497	0.04396	T	-0.603574	0.00139	T	-0.619496	0.11224	T	0.00173120074654155	0.00018	T	0.192681	0.02066	T	0.020510666	0.00613	0.024119506	0.00428	0.020510666	0.00612	0.024119506	0.00428	-3.421	0.15340	T	.	.	0.059	0.01011	B	.;.;.;.	.;.;.;.	-0.487300	0.01907	0.159	0.37059020758783928	0.02419	0.00209	0.01192	N	AEFDHCI	0.034610	0.04317	N	-1.75475410375871	0.00665	0.02870835	-1.69393635246143	0.01164	0.05238694	0.00451636425624444	0.10595	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.72	0.525	0.16266	0.784000	0.26477	1.202000	0.24844	-1.290000	0.01256	0.001000	0.13787	0.000000	0.08366	0.010000	0.09038	0.7792:0.0:0.1157:0.1051	8.248	0.30862	605	0.67457	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	760.98	36	chr3	113938115	.	G	A	760.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.416;DP=853;ExcessHet=0.0000;FS=3.974;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.01;ReadPosRankSum=0.363;SOR=0.481	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1235	20	0	1	0
chr3	114035126	114035126	C	T	exonic	CCDC191	.	nonsynonymous SNV	CCDC191:NM_001353767:exon4:c.G551A:p.R184H	.	.	439	1077	5	1	0	7	0.00323924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	1.0	D	0.999	D	0.000	D	1.000	D	1.78	L	0.61	T	-0.382	T	0.359	T	0.257	3.605	18.35	4.47	1.492	1.470	11.101	0.151	.	.	0.00319489	0.0020	0	0.0003	0	0	3.004e-05	0.0022	0.0139	0.0016688	258	154602	rs577503930	0.0010	0.0010	0.0006	0.0015	0.0148	0.0010	0.0010	0.0142	0.0139	3.001e-05	0.0004	0	2.519e-05	1.875e-05	0.0003	0.0002	0.0009	0.0148	0.0005	0.0005	0.0003	0.0007	0.0135	0.0004	0.0004	0.0109	0.0099	4.817e-05	0	0.0002	0	0	0	0	1.47e-05	0.0005	0.0135	0.108	0.33418	T	0.165	0.92824	T	0.76	0.43524	P	0.147	0.34014	B	0.000006	0.62929	D	0.060034	0.505077	0.35478	D	.	.	.	0.61	0.62762	T	-3.04	0.71042	D	0.236	0.26596	-0.3820	0.72589	T	0.359	0.72085	T	10	0.0050017536	0.00108	T	.	.	.	0.151	0.39764	.	.	0.594705806306	0.59149	0.28059431543265023	0.27972	0.889541350109	0.70159	0.372478812933	0.21187	T	0.035984	0.57970	T	-0.406627	0.02094	T	-0.344544	0.39829	T	0.0548650093897772	0.06334	T	0.80392	0.51127	T	0.14052325	0.32418	0.08713384	0.20234	0.14052325	0.32418	0.08713384	0.20234	-5.511	0.41971	T	.	.	0.147	0.48725	B	.;.;.	.;.;.	4.118081	0.61526	24.3	0.99937880520891087	0.99698	0.86359	0.45624	D	AEFBCI	0.168517	0.29528	N	0.212000371922998	0.51781	3.356661	0.239941950307843	0.52078	3.385269	0.999990669004541	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.35	4.47	0.53770	1.508000	0.35376	0.810000	0.21743	0.549000	0.26987	0.956000	0.33378	0.360000	0.24516	0.903000	0.43903	0.0:0.8396:0.0:0.1604	11.101	0.47397	663	0.61610	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1182.98	44	chr3	114035126	.	C	T	1182.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.43;DP=826;ExcessHet=0.0000;FS=1.921;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.43;ReadPosRankSum=0.394;SOR=1.008	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr3	114068034	114068034	C	T	exonic	QTRT2	.	nonsynonymous SNV	QTRT2:NM_001256835:exon4:c.C340T:p.P114S	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.447	B	0.069	B	0.000	D	1.000	D	1.445	L	.	.	-0.946	T	0.128	T	0.247	2.484	14.27	6.17	2.941	2.199	14.957	0.157	0.00353435843214	0.0004	0.000199681	0.0001	9.61e-05	0	0	0	0.0002	0	0	0.0001423	22	154602	rs142830266	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0003	0.0003	2.988e-05	0.0002	0	0	0	0.0002	0.0003	0.0002	0	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	0.0002	0	0.0002	0	0	0	0	0.0003	0	0	0.271	0.16903	T	0.263	0.22828	T	0.447	0.36006	B	0.069	0.27757	B	0.000027	0.55875	D	0.161122	0.99048	0.81001	D	.	.	.	.	.	.	-1.98	0.55501	N	0.405	0.45426	-0.9457	0.41698	T	0.128	0.43666	T	9	0.114577055	0.21561	T	0.003534	0.08031	T	0.157	0.40909	.	.	0.42748209135	0.42367	0.3652289036496629	0.36436	0.199299692912	0.22328	0.435592651367	0.29974	T	0.030283	0.54024	T	-0.298674	0.08785	T	-0.360824	0.37959	T	0.0572103292983167	0.06723	T	0.846715	0.52677	T	0.10966766	0.25928	0.10435969	0.25061	0.10966766	0.25927	0.10435969	0.25061	-3.443	0.15642	T	.	.	0.094	0.14660	B	.;.;.;.	.;.;.;.	2.654029	0.34565	19.66	0.98998237711439585	0.50086	0.94973	0.62978	D	AEFGBI	0.540450	0.55701	D	-0.135346213610867	0.35861	2.06521	0.0481579419395865	0.41983	2.531524	0.99995846083825	0.48110	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	2.253000	0.42859	4.083000	0.41752	0.587000	0.30956	0.824000	0.30046	0.999000	0.35428	0.708000	0.34389	0.0:0.9326:0.0:0.0674	14.957	0.70771	581	0.69614	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1230.98	107	chr3	114068034	.	C	T	1230.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.868;DP=809;ExcessHet=0.0000;FS=3.584;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=0.122;SOR=1.027	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1269	20	0	1	0
chr3	114299647	114299647	G	A	exonic	TIGIT	.	nonsynonymous SNV	TIGIT:NM_173799:exon3:c.G442A:p.A148T,	.	.	.	.	.	.	.	.	.	.	.	3335919	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.8	T	0.003	B	0.0	B	0.133	N	1.000	N	0.46	N	0.51	T	-1.000	T	0.073	T	0.253	-1.340	0.030	-8.19	-2.557	-2.907	8.674	0.068	0.00701679178193	7.7e-05	.	2.476e-05	0	8.648e-05	0	0	3.001e-05	0	0	2.59e-05	4	154602	rs369133784	9.719e-05	9.713e-05	0.0001	8.805e-05	0.0002	8.381e-05	7.919e-05	9.204e-05	8.612e-05	0.0001	4.472e-05	0	0	1.898e-05	0.0002	0.0001	0.0002	2.319e-05	4.601e-05	4.597e-05	6.424e-05	2.691e-05	7.244e-05	2.11e-05	1.527e-05	1.972e-05	1.124e-05	7.244e-05	0	0	0	0	0	0	5.879e-05	0	0	1.0	0.00964	T	0.966	0.02509	T	0.003	0.11197	B	0.0	0.01387	B	0.133134	0.02825	N	1.743640	1	0.08975	N	0.41	0.12415	N	0.51	0.56446	T	0.42	0.03579	N	0.105	0.11340	-0.9997	0.30002	T	0.073	0.29419	T	10	0.031862438	0.01327	T	0.007017	0.18594	T	0.068	0.19811	.	.	0.0482279557977	0.04254	0.29680220329941315	0.29593	0.0999092227238	0.11286	0.230759099126	0.02025	T	0.009739	0.21560	T	-0.348724	0.04808	T	-0.562848	0.16111	T	0.0323108326455219	0.02357	T	0.430757	0.11694	T	0.018187964	0.00340	0.04456372	0.05802	0.018187964	0.00340	0.04456372	0.05802	-5.379	0.40717	T	.	.	0.070	0.04517	B	.;.;.;.;.	.;.;.;.;.	-1.394029	0.00364	0.007	0.77371945262846054	0.11848	0.01552	0.05086	N	AEFDGBHCI	0.028899	0.02629	N	-1.99056846167888	0.00222	0.009499896	-2.09058998873111	0.00195	0.008597989	0.999999999999684	0.74766	0.55562	0.30534	0	0.491513	0.07743	0	0.68496	0.61776	0	0.636	0.56748	0	.	.	4.09	-8.19	0.00922	-2.928000	0.00756	-0.640000	0.08082	-0.612000	0.04583	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1485:0.0:0.5321:0.3194	8.674	0.33329	759	0.50631	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1281.98	33	chr3	114299647	.	G	A	1281.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.398e+00;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.26;ReadPosRankSum=-1.740e-01;SOR=0.618	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1149	20	0	1	0
chr3	114350760	114350760	C	T	exonic	ZBTB20	.	nonsynonymous SNV	ZBTB20:NM_001164342:exon4:c.G1318A:p.E440K	Primrose syndrome, Autosomal dominant	.	427	1046	47	2	0	51	0.0237984	.	.	697765	not_provided|not_specified|Primrose_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009798,MedGen:C0796121,OMIM:259050,Orphanet:3042	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.0	B	0.0	B	0.006	N	1.000	D	0.695	N	2.95	T	-1.034	T	0.013	T	0.201	2.240	13.45	5.41	2.546	7.271	19.198	0.085	.	0.0054	0.00479233	0.0061	0.0013	0.0034	0	0.0005	0.0077	0.0066	0.0099	0.0059249	916	154602	rs138924453	0.0062	0.0062	0.0061	0.0062	0.0192	0.0061	0.0060	0.0163	0.0153	0.0007	0.0052	0.0164	0	0.0009	0.0192	0.0062	0.0075	0.0094	0.0053	0.0053	0.0055	0.0052	0.0108	0.0050	0.0049	0.0094	0.0089	0.0010	0.0033	0.0108	0.0164	0.0002	0.0002	0.0238	0.0071	0.0095	0.0068	0.005	0.65419	D	0.908	0.03074	T	0.0	0.02946	B	0.0	0.01387	B	0.005851	0.32460	N	0.335736	0.999918	0.51042	D	0.805	0.20218	L	2.95	0.09822	T	-0.4	0.13805	N	0.462	0.50056	-1.0342	0.19109	T	0.013	0.04985	T	10	0.0055340827	0.00122	T	.	.	.	0.085	0.24743	.	.	0.273495378476	0.26946	0.35997643831087467	0.35911	1.32069806668	0.83445	0.627004861832	0.56721	T	0.106686	0.41824	T	-0.469568	0.00855	T	-0.440456	0.28757	T	0.0611467036723522	0.07347	T	0.878612	0.59406	D	0.38603228	0.59749	0.32534233	0.58450	0.3285269	0.55350	0.32534233	0.58449	-2.938	0.11102	T	.	.	0.352	0.56715	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.272020	0.44790	22.0	0.99728218537375035	0.82549	0.97136	0.72900	D	AEFBI	0.764290	0.70112	D	0.0161949265100816	0.42593	2.569172	0.22455800224508	0.51212	3.305839	0.999999922502221	0.74766	0.372202	0.05800	0	0.546412	0.12157	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	5.41	5.41	0.78313	7.350000	0.78633	7.709000	0.66702	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.198	0.93686	846	0.36215	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	7454.68	33	chr3	114350760	.	C	T	7454.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.545;DP=1193;ExcessHet=0.3300;FS=3.239;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.73;ReadPosRankSum=-3.870e-01;SOR=0.511	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1310	18	0	3	0
chr3	115676196	115676196	G	C	exonic	GAP43	.	nonsynonymous SNV	GAP43:NM_002045:exon2:c.G214C:p.A72P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.771	P	0.383	B	0.026	N	1.000	N	1.61	L	0.81	T	-0.975	T	0.114	T	0.339	1.198	9.869	3.74	1.291	2.358	6.183	0.066	0.0138723661589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.164e-06	0.0001	6.814e-06	5.506e-06	0.0002	2.9e-06	2.1e-06	2.62e-06	1.69e-06	0	0	0	0	0	0.0002	6.304e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.48186	D	0.116	0.48594	T	0.371	0.34093	B	0.27	0.39872	B	0.026388	0.25927	N	0.380184	1	0.08975	N	1.935	0.51832	L	0.81	0.48460	T	-1.44	0.36385	N	0.115	0.13055	-0.9747	0.36191	T	0.114	0.40559	T	10	0.13199726	0.25123	T	0.013872	0.33594	T	0.066	0.19193	0.401	0.43081	0.482646159919	0.47895	0.13216878396780574	0.13141	0.27922568898	0.30403	0.315461575985	0.12734	T	0.20433	0.56307	T	-0.115191	0.33911	T	-0.403241	0.33007	T	0.650220215320587	0.38471	D	0.59824	0.32735	T	0.29186904	0.52166	0.3267469	0.58579	0.29186904	0.52166	0.3267469	0.58578	-5.243	0.39376	T	.	.	0.142	0.35247	B	.;.	.;.	2.241624	0.28623	17.86	0.9963283397870325	0.76142	0.37808	0.25845	N	AEFBI	0.528119	0.54978	D	-0.309158098030579	0.28799	1.591533	-0.403764697157965	0.24886	1.36534	1.52725511360971E-4	0.05650	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.542086	0.14980	0	.	.	4.62	3.74	0.42108	2.136000	0.41744	2.479000	0.32931	0.676000	0.76740	0.127000	0.23295	0.120000	0.22892	0.064000	0.16252	0.1644:0.1547:0.6809:0.0	6.183	0.19696	935	0.14827	Neuromodulin (GAP-43), C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.125	108.87	93	chr3	115676196	.	G	C	108.87	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-3.165e+00;DP=1834;ExcessHet=1.1607;FS=178.066;InbreedingCoeff=-0.1514;MLEAC=4;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=0.25;ReadPosRankSum=0.572;SOR=11.555	GT:AD:DP:GQ:PL	0/1:71,28:105:50:50,0,1580	15	0	5	1
chr3	119191045	119191045	A	G	exonic	UPK1B	.	nonsynonymous SNV	UPK1B:NM_006952:exon5:c.A409G:p.N137D,	.	.	432	1042	45	3	0	51	0.0238876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.99	D	0.86	P	0.000	D	0.997	D	1.5	L	-1.13	T	-0.790	T	0.015	T	0.388	4.436	23.6	5.55	2.112	4.906	14.525	0.394	.	0.0041	0.0395367	0.0169	0.0012	0.0039	0.1263	0.0011	0.0059	0.0132	0.0296	0.0159894	2472	154602	rs78761311	0.0095	0.0095	0.0089	0.0102	0.1233	0.0094	0.0093	0.1204	0.1192	0.0012	0.0039	0.0189	0.1233	0.0016	0.0206	0.0040	0.0146	0.0320	0.0096	0.0096	0.0087	0.0105	0.1273	0.0092	0.0090	0.1192	0.1160	0.0013	0.0132	0.0056	0.0205	0.1273	0.0008	0.0136	0.0050	0.0132	0.0416	0.551	0.33418	T	0.473	0.13328	T	0.99	0.63424	D	0.86	0.61233	P	0.000054	0.53742	D	0.130780	0.997379	0.43837	D	1.78	0.46185	L	-1.13	0.86815	T	-1.25	0.32791	N	0.484	0.51851	-0.7897	0.55747	T	0.015	0.05946	T	10	0.0016655028	0.00020	T	.	.	.	0.394	0.70924	.	.	.	.	0.8157807269029524	0.81534	0.0496078120372	0.05439	0.483811795712	0.36581	T	0.123975	0.46565	T	-0.3391	0.05451	T	-0.152749	0.59000	T	0.0293694875918715	0.01894	T	0.756624	0.37993	T	0.18363465	0.39641	0.23165466	0.48303	0.18363465	0.39640	0.23165466	0.48302	-3.313	0.13906	T	.	.	0.108	0.26886	B	.;.;.;.;.	.;.;.;.;.	3.760625	0.53956	23.4	0.99692084973768502	0.79977	0.95921	0.66730	D	AEFBI	0.639388	0.61746	D	0.422289372913453	0.62648	4.48438	0.4541350233731	0.64982	4.766575	0.999999992247945	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.55	5.55	0.83298	4.935000	0.63199	11.235000	0.90242	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.525	0.67467	366	0.84579	.;.;.;.;.	.	.	.	.	rs78761311	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2445.11	112	chr3	119191045	.	A	G	2445.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.565e+00;DP=894;ExcessHet=0.1072;FS=0.473;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.32;ReadPosRankSum=1.28;SOR=0.648	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,109,1250	19	0	2	0
chr3	119517206	119517206	A	G	exonic	TIMMDC1	.	nonsynonymous SNV	TIMMDC1:NM_016589:exon6:c.A598G:p.T200A,	.	.	430	1091	1	0	0	1	0.000458085	0.0001	0.01	795310	Mitochondrial_complex_1_deficiency,_nuclear_type_31|not_specified|not_provided	MONDO:MONDO:0032634,MedGen:C4748838,OMIM:618251|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.004	B	0.019	B	0.478	N	0.996	N	1.175	L	1.84	T	-1.021	T	0.072	T	0.417	0.963	8.931	1.46	0.421	0.673	6.416	0.074	0.00539901731319	7.7e-05	.	9.909e-05	0	8.687e-05	0	0	0.0001	0	0.0001	8.41e-05	13	154602	rs200592275	8.132e-05	8.278e-05	8.649e-05	7.611e-05	0.0051	6.919e-05	6.468e-05	0.0036	0.0031	9.073e-05	0.0002	0	0	0	0.0051	5.713e-05	0.0001	0.0001	5.259e-05	5.251e-05	9.001e-05	1.345e-05	6.545e-05	2.558e-05	1.831e-05	1.172e-05	6.25e-06	0	0	6.545e-05	0	0	0	0.0136	4.413e-05	0	0	0.092	0.31682	T	0.269	0.22426	T	0.004	0.12183	B	0.019	0.18783	B	0.477870	0.12201	N	0.764287	0.995928	0.23238	N	1.52	0.38360	L	1.84	0.42122	T	-0.24	0.18459	N	0.239	0.28028	-1.0207	0.23486	T	0.072	0.29387	T	9	0.050963998	0.04906	T	0.005399	0.13862	T	0.074	0.21613	.	.	0.0611884634855	0.05136	0.2992644780324871	0.29839	0.161424824733	0.18220	0.37573081255	0.21650	T	0.001467	0.09336	T	-0.31335	0.07456	T	-0.451213	0.27563	T	0.0136340912431479	0.00253	T	0.578742	0.23263	T	0.027109304	0.01857	0.03192444	0.01852	0.027109304	0.01857	0.03192444	0.01852	-2.463	0.05534	T	0.13396400801182445	0.14427	0.089	0.16231	B	.;.;.	.;.;.	0.855048	0.12271	8.815	0.92459825013898134	0.21885	0.16164	0.19261	N	AEFGBI	0.051413	0.09081	N	-0.615219485031728	0.18487	0.9601618	-0.57309341207633	0.20196	1.086987	0.00884054780145815	0.11750	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.28	1.46	0.21769	0.661000	0.24706	0.462000	0.18628	0.756000	0.94297	0.195000	0.24249	0.000000	0.08366	0.352000	0.25704	0.694:0.0:0.306:0.0	6.416	0.20918	759	0.50631	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	839.98	36	chr3	119517206	.	A	G	839.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.600;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.24;ReadPosRankSum=-9.960e-01;SOR=0.610	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1126	20	0	1	0
chr3	119732348	119732348	G	A	exonic	CFAP91	.	nonsynonymous SNV	CFAP91:NM_001320318:exon7:c.G695A:p.R232K	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	1.0	D	0.997	D	0.000	D	1.000	D	2.045	M	1.68	T	-0.984	T	0.167	T	0.427	4.682	25.9	5.66	2.653	5.530	19.763	0.178	0.0129481130888	.	.	0.0003	0	8.658e-05	0	0.0006	0.0003	0.0011	0.0006	0.0002329	36	154602	rs201212862	0.0001	0.0001	0.0001	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	0	2.253e-05	0.0026	0	0.0003	0.0005	5.492e-05	0.0002	0.0006	0.0001	0.0001	8.993e-05	0.0001	8.819e-05	7.091e-05	5.748e-05	3.761e-05	2.575e-05	0	0	6.549e-05	0.0020	0	9.418e-05	0	8.819e-05	0.0010	0	0.022	0.48642	D	0.085	0.41074	T	.	.	.	.	.	.	0.000187	0.48115	D	0.174416	0.998647	0.45212	D	.	.	.	1.68	0.27184	T	-2.66	0.56945	D	0.614	0.63035	-0.9842	0.34022	T	0.167	0.50648	T	10	0.051376402	0.05011	T	0.012948	0.31963	T	0.178	0.44724	.	.	0.598062005445	0.59486	0.49077846087923155	0.48997	0.536921396512	0.51012	0.488486588001	0.37228	T	.	.	.	-0.322529	0.06693	T	-0.339156	0.40440	T	0.166420715266845	0.18333	T	0.782022	0.41734	T	0.47644678	0.65684	0.39524806	0.64197	0.47644678	0.65685	0.39524806	0.64197	-3.052	0.10752	T	0.5114308956325749	0.58513	0.187	0.40360	B	.;.	.;.	4.758050	0.76898	26.6	0.99666727195956417	0.78330	0.87369	0.46887	D	AEFBCI	0.790286	0.71922	D	0.710040071274449	0.80290	7.26183	0.709941997530029	0.83132	7.942566	0.999999986550607	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.648885	0.59868	0	.	.	5.66	5.66	0.87293	6.978000	0.75927	11.755000	0.95496	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.763	0.96324	630	0.65016	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	263.98	33	chr3	119732348	.	G	A	263.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=729;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.62;ReadPosRankSum=1.11;SOR=0.776	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1054	20	0	1	0
chr3	119812912	119812912	A	T	exonic	NR1I2	.	nonsynonymous SNV	NR1I2:NM_003889:exon5:c.A746T:p.Y249F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.999	D	0.993	D	0.010	N	1.000	D	1.455	L	-4.04	D	0.743	D	0.878	D	0.32	3.115	16.41	3.06	0.648	2.267	8.099	0.612	0.0988812856358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	3.478e-05	5.5e-07	1.5e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.26852	T	0.234	0.24840	T	0.987	0.61912	D	0.848	0.60574	P	0.009717	0.30236	N	0.351936	0.999997	0.58761	D	1.275	0.32135	L	-4.04	0.96465	D	-2.02	0.46503	N	0.262	0.34228	0.743	0.93710	D	0.878	0.95948	D	10	0.42817873	0.57314	T	0.098881	0.77015	D	0.612	0.84826	0.52	0.62217	0.821358977847	0.81967	0.45009352322635066	0.44927	0.102938581225	0.11647	0.513308465481	0.40685	T	0.648906	0.89322	D	0.130765	0.67435	D	-0.0499419	0.67026	D	0.574024021625519	0.35389	D	0.785621	0.48098	T	0.22669794	0.45356	0.17653179	0.40194	0.22669794	0.45356	0.17653179	0.40194	-7.026	0.59244	T	.	.	0.157	0.35540	B	.;.;.;.;.	.;.;.;.;.	3.646128	0.51727	23.1	0.98065162956281415	0.37983	0.76429	0.37483	D	AEFDBHCI	0.651387	0.62515	D	0.128599684399934	0.47801	3.000753	0.127179065778494	0.45943	2.848724	0.75227113293187	0.23379	0.656854	0.48797	0	0.588066	0.40923	0	0.67347	0.61138	0	0.542086	0.14980	0	.	.	4.26	3.06	0.34374	2.354000	0.43753	8.781000	0.78246	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.8194:0.0:0.0:0.1806	8.099	0.30005	684	0.59539	Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain;Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain;.;.;Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1650.98	34	chr3	119812912	.	A	T	1650.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=823;ExcessHet=0.0000;FS=6.531;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=0.943;SOR=1.214	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1153	20	0	1	0
chr3	120173425	120173425	G	A	exonic	GPR156	.	nonsynonymous SNV	GPR156:NM_001168271:exon9:c.C967T:p.R323C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	B	0.0	B	0.546	N	0.999	N	1.79	L	1.87	T	-1.015	T	0.042	T	0.135	1.592	11.28	0.255	-0.259	1.142	4.933	0.071	.	0.0027	0.00379393	0.0008	0.0081	0.0003	0	0	7.493e-05	0.0011	0	0.0007309	113	154602	rs57059149	0.0003	0.0003	0.0003	0.0003	0.0074	0.0003	0.0003	0.0067	0.0064	0.0074	0.0008	0	2.519e-05	0	0.0005	8.274e-05	0.0008	1.159e-05	0.0022	0.0022	0.0022	0.0021	0.0073	0.0020	0.0019	0.0066	0.0064	0.0073	0	0.0014	0	0	0	0	2.941e-05	0.0033	0	0.069	0.35537	T	0.014	0.62352	D	0.002	0.09854	B	0.0	0.01387	B	0.545633	0.05340	N	1.234910	0.998589	0.22057	N	0.41	0.12415	N	1.87	0.24085	T	-0.75	0.23372	N	0.201	0.22228	-1.0152	0.25272	T	0.042	0.18202	T	9	0.005952537	0.00133	T	.	.	.	0.071	0.20720	.	.	0.0401082797425	0.02173	0.28681149681973106	0.28594	0.324793968335	0.34632	0.205490723252	0.00634	T	0.003472	0.02879	T	-0.597146	0.00152	T	-0.624986	0.10798	T	0.0162358151020956	0.00396	T	0.662834	0.27173	T	0.074266344	0.16655	0.047367692	0.06808	0.074266344	0.16655	0.047367692	0.06808	-7.396	0.56876	T	.	.	0.073	0.09820	B	.;.;.	.;.;.	1.020745	0.14004	10.57	0.93372460735581286	0.23116	0.78365	0.38652	D	AEFDBIJ	0.225451	0.34954	N	-0.569834242358616	0.19865	1.043061	-0.535954460465216	0.21179	1.144541	0.999957918299885	0.48110	0.57788	0.32782	0	0.573888	0.26702	0	0.608075	0.38828	0	0.613276	0.41899	0	.	.	5.48	0.255	0.14819	1.213000	0.32011	-0.368000	0.09627	-0.681000	0.04224	1.000000	0.71638	0.000000	0.08366	0.862000	0.40904	0.3428:0.1424:0.5147:0.0	4.933	0.13280	771	0.49057	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1480.98	35	chr3	120173425	.	G	A	1480.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=915;ExcessHet=0.0000;FS=1.304;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.94;ReadPosRankSum=0.999;SOR=0.813	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1206	20	0	1	0
chr3	120633158	120633158	C	G	exonic	HGD	.	nonsynonymous SNV	HGD:NM_000187:exon13:c.G1177C:p.D393H,	Alkaptonuria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.051	B	0.067	B	0.000	D	1.000	D	2.215	M	-5.41	D	0.969	D	0.942	D	0.399	3.069	16.25	5.2	2.703	7.289	17.905	0.636	0.290516604852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	0	6.574e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.009	0.57480	D	0.065	0.44702	T	0.051	0.22415	B	0.067	0.27542	B	0.000031	0.55875	D	0.117189	0.999987	0.54805	D	2.05	0.56469	M	-5.41	0.99076	D	-3.14	0.64019	D	0.459	0.49602	0.969	0.96681	D	0.942	0.98095	D	10	0.62155443	0.68006	D	0.290517	0.90547	D	0.636	0.86078	0.463	0.53242	0.920873672342	0.92006	0.5553649567880087	0.55463	0.262288518951	0.28792	0.599573493004	0.52843	T	0.946128	0.99190	D	0.196809	0.73595	D	0.0449265	0.73250	D	0.967215578798597	0.67835	D	0.947205	0.79675	D	0.49282646	0.66671	0.48454198	0.70162	0.49282646	0.66672	0.48454198	0.70162	-8.779	0.66263	D	0.29490311392351937	0.39181	0.263	0.49778	B	.	.	4.043659	0.59881	24.2	0.98479028667530422	0.41954	0.98066	0.79310	D	AEFDBHIJ	0.960995	0.98205	D	0.195639998410276	0.50989	3.283918	0.31493684670993	0.56418	3.804967	0.999999999977076	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.2	5.2	0.71720	7.359000	0.78737	4.883000	0.45686	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	17.905	0.88835	311	0.87433	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1215.98	34	chr3	120633158	.	C	G	1215.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.313;DP=773;ExcessHet=0.0000;FS=0.876;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.79;ReadPosRankSum=0.125;SOR=0.818	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1095	20	0	1	0
chr3	121485178	121485178	G	A	exonic	POLQ	.	nonsynonymous SNV	POLQ:NM_199420:exon17:c.C5636T:p.S1879L,	.	.	450	1041	31	0	0	31	0.0146711	.	.	1037301	POLQ-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.27	T	0.013	B	0.009	B	0.479	N	1.000	N	1.085	L	0.65	T	-1.038	T	0.082	T	0.064	1.343	10.41	-1.8	-0.745	0.133	7.414	0.027	.	0.0002	0.00279553	0.0029	0.0003	0.0012	0.0001	0.0002	0.0008	0.0022	0.0169	0.0024709	382	154602	rs147121503	0.0014	0.0014	0.0009	0.0018	0.0148	0.0013	0.0013	0.0141	0.0138	0.0002	0.0017	0.0004	5.131e-05	9.422e-05	0.0055	0.0005	0.0017	0.0148	0.0013	0.0013	0.0008	0.0019	0.0129	0.0012	0.0011	0.0103	0.0094	7.22e-05	0	0.0060	0.0017	0	0	0.0068	0.0006	0.0005	0.0129	0.241	0.17643	T	0.097	0.39190	T	0.001	0.07471	B	0.002	0.06944	B	0.478985	0.12188	N	0.736603	1	0.08975	N	1.255	0.31814	L	0.65	0.52642	T	-2.91	0.60982	D	0.302	0.34120	-1.0376	0.18048	T	0.082	0.32207	T	10	0.004228592	0.00084	T	.	.	.	0.027	0.05988	.	.	0.0482279557977	0.04254	0.32733954107697144	0.32646	0.0644950670279	0.07196	0.274729400873	0.06767	T	0.197175	0.55378	T	-0.615772	0.00117	T	-0.643665	0.09404	T	0.0012855667840687	0.00013	T	0.657934	0.26722	T	0.055490706	0.10791	0.08901301	0.20790	0.055490706	0.10791	0.08901301	0.20789	-3.854	0.21614	T	0.12667760709555098	0.12833	0.061	0.01075	B	.;.	.;.	0.328249	0.07025	3.584	0.86564158235531208	0.16621	0.16206	0.19281	N	AEFBI	0.108041	0.21506	N	-1.35796408788616	0.03043	0.1353312	-1.38397721259263	0.03422	0.1595944	0.0022855965599709	0.09294	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.655142	0.61905	0	.	.	5.72	-1.8	0.07480	0.361000	0.20003	0.130000	0.15034	-0.892000	0.02379	0.005000	0.17040	0.000000	0.08366	0.188000	0.21541	0.4517:0.1062:0.4421:0.0	7.414	0.26207	274	0.89249	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1002.98	34	chr3	121485178	.	G	A	1002.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.508;DP=777;ExcessHet=0.0000;FS=0.994;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.33;ReadPosRankSum=0.976;SOR=0.900	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1281	20	0	1	0
chr3	121487389	121487389	T	A	exonic	POLQ	.	stopgain	POLQ:NM_199420:exon16:c.A5542T:p.K1848X,	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.008	N	1.000	A	.	.	.	.	.	.	.	.	.	11.716	45	4.49	2.158	1.813	7.844	.	.	.	.	3.303e-05	0	0	0	0	4.504e-05	0	6.072e-05	2.59e-05	4	154602	rs757184831	2.258e-05	2.257e-05	1.634e-05	2.888e-05	0.0003	1.61e-05	1.416e-05	6.092e-05	4.043e-05	0	0	0	0	0	0.0003	1.709e-05	4.968e-05	0.0001	6.57e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.007596	0.31308	N	0.366664	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.667	0.67564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.453337	0.92630	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	7.693518	0.96770	36	0.99608622989018281	0.74694	0.86377	0.45645	D	AEFDBI	0.249491	0.36971	N	0.616981174195137	0.74247	6.100553	0.460944737967961	0.65425	4.821929	0.0937711946008333	0.16190	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.66	4.49	0.54177	1.815000	0.38620	3.520000	0.38893	0.665000	0.62972	0.729000	0.28913	1.000000	0.68203	0.778000	0.36829	0.0:0.0707:0.1365:0.7928	7.844	0.28576	274	0.89249	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1491.98	34	chr3	121487389	.	T	A	1491.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.997e+00;DP=803;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=0.543;SOR=0.640	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1230	20	0	1	0
chr3	121487913	121487913	G	A	exonic	POLQ	.	nonsynonymous SNV	POLQ:NM_199420:exon16:c.C5018T:p.T1673I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.002	B	0.002	B	0.371	N	1.000	N	0.805	L	0.81	T	-1.053	T	0.075	T	0.034	-0.373	2.246	-2.77	-0.446	-0.678	2.369	0.039	0.0146790804662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.377e-06	1.368e-06	1.37e-06	1.384e-06	1.805e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.805e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.417	0.09927	T	0.138	0.33780	T	0.002	0.09854	B	0.002	0.06944	B	0.370944	0.04362	N	1.353580	1	0.08975	N	1.27	0.32069	L	0.81	0.48460	T	-0.68	0.19509	N	0.063	0.03502	-1.0527	0.13655	T	0.075	0.30086	T	10	0.07018611	0.10174	T	0.014679	0.34954	T	0.039	0.10176	0.23	0.15705	0.282575091529	0.27877	0.17041028566275843	0.16961	0.0757012635731	0.08499	0.216599524021	0.01123	T	0.028571	0.20668	T	-0.368764	0.03657	T	-0.767481	0.02852	T	0.0224064902320698	0.00954	T	0.433957	0.11861	T	0.029891912	0.02559	0.0275125	0.00910	0.029891912	0.02558	0.0275125	0.00910	-3.768	0.20327	T	0.10308168498915904	0.07908	0.102	0.17953	B	.;.	.;.	-0.814075	0.01079	0.048	0.90710819614450711	0.19961	0.01576	0.05139	N	AEFGBI	0.029562	0.02814	N	-1.04787393233879	0.07629	0.3550544	-1.09130711650266	0.07870	0.3846015	0.0200161316716789	0.13218	0.615465	0.37627	0	0.653731	0.59785	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.64	-2.77	0.05529	-1.142000	0.03314	-0.517000	0.08711	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.089000	0.17737	0.3465:0.0907:0.3791:0.1836	2.369	0.04061	274	0.89249	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1645.98	115	chr3	121487913	.	G	A	1645.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.770;DP=863;ExcessHet=0.0000;FS=0.692;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.31;ReadPosRankSum=0.112;SOR=0.786	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1230	20	0	1	0
chr3	121623083	121623083	G	C	exonic	FBXO40	.	nonsynonymous SNV	FBXO40:NM_016298:exon3:c.G1654C:p.E552Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.949	P	0.578	P	0.089	N	0.994	N	0.55	N	1.48	T	-1.061	T	0.045	T	0.086	1.514	11.01	5.96	2.831	1.538	11.211	0.085	.	0.0036	0.00279553	0.0009	0.0101	0.0003	0	0	0	0	0	0.0008279	128	154602	rs141908054	0.0003	0.0003	0.0003	0.0002	0.0100	0.0002	0.0002	0.0091	0.0088	0.0100	0.0002	0	0	0	0.0002	3.597e-06	0.0007	1.159e-05	0.0025	0.0025	0.0024	0.0026	0.0087	0.0023	0.0022	0.0080	0.0077	0.0087	0	0.0007	0	0	0	0	1.47e-05	0.0028	0	0.516	0.07354	T	0.6	0.07946	T	0.949	0.53761	P	0.578	0.50118	P	0.088541	0.20475	N	0.546354	0.99438	0.23529	N	1.06	0.26948	L	1.48	0.31731	T	-0.37	0.13226	N	0.148	0.15046	-1.0612	0.11459	T	0.045	0.19152	T	10	0.006739378	0.00153	T	.	.	.	0.085	0.24743	.	.	0.351180957027	0.34734	0.36548818468653804	0.36462	0.107925270574	0.12170	0.410595804453	0.26540	T	0.013702	0.11803	T	-0.62122	0.00108	T	-0.657867	0.08411	T	0.0331743226306376	0.02500	T	0.770523	0.40040	T	0.085311	0.19784	0.06405898	0.12782	0.085311	0.19783	0.06405898	0.12781	-4.211	0.26910	T	.	.	0.100	0.17016	B	.	.	3.035764	0.40681	21.2	0.99150272530680472	0.53793	0.49442	0.28434	N	AEFGBI	0.286406	0.39880	N	0.156166948403956	0.49103	3.114588	0.218040320419467	0.50849	3.272688	0.749452611316954	0.23336	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	1.271000	0.32700	11.862000	0.98348	0.676000	0.76740	0.030000	0.20431	1.000000	0.68203	0.986000	0.61781	0.0824:0.0:0.9176:0.0	11.211	0.48028	354	0.85282	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1959.98	38	chr3	121623083	.	G	C	1959.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=906;ExcessHet=0.0000;FS=3.958;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.00;ReadPosRankSum=-7.880e-01;SOR=0.448	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr3	121623199	121623199	C	G	exonic	FBXO40	.	nonsynonymous SNV	FBXO40:NM_016298:exon3:c.C1770G:p.S590R,	.	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.000	D	1.000	D	2.175	M	0.56	T	-0.478	T	0.307	T	0.981	2.180	13.24	4.07	0.950	0.431	11.202	0.511	0.0568068349495	7.7e-05	.	5.771e-05	0	0	0	0	7.501e-05	0.0011	6.058e-05	4.53e-05	7	154602	rs368217296	3.078e-05	3.078e-05	2.586e-05	3.575e-05	0.0016	2.347e-05	2.095e-05	0.0008	0.0006	0	0	0	0	0	0.0016	1.709e-05	3.311e-05	0.0002	6.571e-06	6.567e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.003	0.68238	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999701	0.48408	D	2.815	0.81989	M	0.56	0.54540	T	-3.76	0.71276	D	0.912	0.91391	-0.4781	0.69437	T	0.307	0.67759	T	10	0.91602004	0.90963	D	0.056807	0.66737	D	0.511	0.79033	0.728	0.86198	0.727196491074	0.72477	0.7715680771226404	0.77106	0.522662346704	0.49986	0.594224452972	0.52090	T	0.443571	0.78730	T	0.0651341	0.60252	T	0.0924527	0.76408	D	0.816393435001373	0.47507	D	0.878012	0.59262	D	0.68635803	0.77313	0.61243856	0.77450	0.68635803	0.77314	0.61243856	0.77451	-8.478	0.64283	D	.	.	0.972	0.89696	P	.	.	2.958762	0.39395	21.0	0.99711562716009672	0.81353	0.82995	0.42152	D	AEFGBI	0.284259	0.39717	N	0.208248487188359	0.51597	3.339797	0.181645821250187	0.48843	3.094785	0.00262568191382908	0.09584	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.16	4.07	0.46726	0.453000	0.21523	-0.323000	0.09949	-0.827000	0.02907	0.994000	0.38300	0.000000	0.08366	0.962000	0.52141	0.0:0.7754:0.0:0.2246	11.202	0.47975	354	0.85282	F-box domain|F-box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1150.98	38	chr3	121623199	.	C	G	1150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=846;ExcessHet=0.0000;FS=5.326;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=-1.717e+00;SOR=1.232	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr3	121697608	121697608	C	T	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.G2675A:p.S892N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.003	B	0.006	B	0.408	N	1.000	N	1.39	L	2.45	T	-1.002	T	0.036	T	0.11	-1.422	0.021	-1.89	-0.182	-1.460	2.032	0.010	0.0055666730905	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs778004960	6.574e-05	6.636e-05	7.359e-05	5.78e-05	8.457e-05	5.5e-05	5.112e-05	7.05e-05	6.543e-05	2.998e-05	0	0	0	0	0	8.457e-05	1.657e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.261	0.16738	T	0.371	0.16425	T	0.001	0.07471	B	0.003	0.08700	B	0.408103	0.13033	N	0.739273	1	0.08975	N	1.2	0.30300	L	2.45	0.24472	T	-0.05	0.13418	N	0.083	0.05929	-1.0015	0.29488	T	0.036	0.15334	T	10	0.038387537	0.02253	T	0.005567	0.14379	T	0.010	0.01040	.	.	0.170165803431	0.16609	0.037615456697216235	0.03707	0.0975493673825	0.11016	0.338142246008	0.16160	T	0.011343	0.10136	T	-0.518972	0.00446	T	-0.687051	0.06562	T	0.355778306722641	0.27244	T	0.69713	0.36376	T	0.025965443	0.01596	0.04456666	0.05802	0.025965443	0.01595	0.04456666	0.05802	-3.888	0.22948	T	.	.	0.068	0.03372	B	.;.;.;.	.;.;.;.	-0.165862	0.03270	0.558	0.56106229042003131	0.05481	0.03532	0.08721	N	AEFBI	0.039459	0.05734	N	-1.19125646828008	0.05132	0.2332122	-1.23530746019028	0.05352	0.2547985	0.0878450262559025	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.35	-1.89	0.07271	-2.009000	0.01544	-0.178000	0.11160	-0.176000	0.10722	0.000000	0.06391	0.020000	0.20764	0.881000	0.42162	0.1378:0.2768:0.1232:0.4621	2.032	0.03317	398	0.82839	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4118	1321.45	117	chr3	121697608	.	C	T	1321.45	.	AC=14;AF=0.412;AN=34;BaseQRankSum=-2.821e+00;DP=2409;ExcessHet=14.4320;FS=218.851;InbreedingCoeff=-0.6164;MLEAC=16;MLEAF=0.471;MQ=60.00;MQRankSum=0.00;QD=0.83;ReadPosRankSum=0.342;SOR=12.895	GT:AD:DP:GQ:PL	0/1:93,29:133:19:19,0,1690	3	0	14	4
chr3	121698889	121698889	G	C	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.C1394G:p.A465G	.	.	444	1068	10	0	0	10	0.00465983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.136	B	0.053	B	0.009	N	1.000	N	1.7	L	2.44	T	-0.990	T	0.092	T	0.229	0.952	8.881	-0.137	0.052	0.540	1.241	0.053	.	0.0002	0.00259585	0.0019	0.0002	0.0003	0	0	0.0003	0.0023	0.0129	0.0015977	247	154602	rs201931896	0.0008	0.0008	0.0005	0.0011	0.0110	0.0007	0.0007	0.0104	0.0102	6.135e-05	0.0003	0.0004	0	0	0.0027	9.958e-05	0.0008	0.0110	0.0004	0.0004	0.0003	0.0006	0.0090	0.0004	0.0003	0.0068	0.0061	9.672e-05	0	6.569e-05	0.0003	0	0	0.0034	0.0002	0.0009	0.0090	0.138	0.26965	T	0.096	0.39340	T	0.019	0.27347	B	0.033	0.25678	B	0.008537	0.01209	N	2.551320	1	0.08975	N	1.79	0.46772	L	2.44	0.24656	T	-1.23	0.31170	N	0.044	0.02759	-0.9895	0.32727	T	0.092	0.35010	T	10	0.0055116713	0.00122	T	.	.	.	0.140	0.37593	.	.	0.409800938858	0.40592	0.055963666282335456	0.05537	0.104334685682	0.11803	0.229549348354	0.01935	T	0.017607	0.14333	T	-0.540753	0.00332	T	-0.539143	0.18380	T	0.00603764417651314	0.00066	T	0.609739	0.23774	T	0.035927054	0.04322	0.05874691	0.10910	0.035927054	0.04322	0.05874691	0.10909	-3.703	0.19643	T	.	.	0.098	0.17573	B	.;.;.;.	.;.;.;.	0.824074	0.11954	8.514	0.50764531149210801	0.04442	0.19297	0.20606	N	AEFBI	0.058137	0.10885	N	-0.522569134731959	0.21351	1.132484	-0.675429195802025	0.17576	0.935173	0.0430115102109138	0.14551	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.25	-0.137	0.12811	0.717000	0.25523	1.434000	0.26471	0.676000	0.76740	0.013000	0.18845	0.001000	0.17328	0.120000	0.19168	0.1727:0.1466:0.38:0.3008	1.241	0.01845	398	0.82839	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	720.98	43	chr3	121698889	.	G	C	720.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.970e-01;DP=864;ExcessHet=0.0000;FS=1.027;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=-4.940e-01;SOR=0.932	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr3	121719669	121719669	C	A	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256486:exon7:c.G748T:p.D250Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.943	D	0.004	N	0.952	D	2.045	M	2.31	T	-1.034	T	0.108	T	0.505	2.969	15.90	5.86	2.774	2.208	15.688	0.107	0.0163554636148	.	.	2.486e-05	0	0.0002	0	0	0	0.0011	0	1.94e-05	3	154602	rs757452116	4.803e-06	4.788e-06	2.731e-06	6.896e-06	5.84e-05	2e-06	1.28e-06	2.206e-05	1.439e-05	0	0	0	0	0	0	9.01e-07	1.661e-05	5.84e-05	6.572e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.006	0.63226	D	0.009	0.66756	D	1.0	0.90584	D	0.943	0.67921	D	0.004488	0.33689	N	0.206183	0.951533	0.37744	D	2.085	0.57729	M	2.31	0.16953	T	-2.69	0.62630	D	0.662	0.67132	-1.0336	0.19300	T	0.108	0.39270	T	10	0.57409984	0.65482	D	0.016355	0.37579	T	0.107	0.30369	0.316	0.29258	0.462721901306	0.45895	0.39564635080118365	0.39479	0.570962921086	0.53239	0.553746640682	0.46385	T	0.062452	0.31919	T	-0.267034	0.12090	T	-0.384684	0.35173	T	0.631497927131454	0.37680	D	0.877412	0.59551	D	0.28463188	0.51489	0.21146107	0.45575	0.28463188	0.51489	0.21146107	0.45574	-6.861	0.56529	T	.	.	0.371	0.57866	A	.;.	.;.	4.671639	0.74675	26.2	0.98426443217967341	0.41343	0.91698	0.54074	D	AEFDGBI	0.285297	0.39795	N	0.659327093264592	0.76972	6.586227	0.652916332524011	0.78827	6.955	0.99999867636585	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	5.86	0.93936	2.412000	0.44263	7.550000	0.60255	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:1.0:0.0:0.0	15.688	0.77182	442	0.79946	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1727.98	33	chr3	121719669	.	C	A	1727.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.340e-01;DP=841;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.37;ReadPosRankSum=0.461;SOR=0.696	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1318	20	0	1	0
chr3	121872672	121872672	C	T	exonic	EAF2	.	nonsynonymous SNV	EAF2:NM_001320041:exon4:c.C230T:p.S77F	.	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.779	P	0.177	B	0.126	N	1.000	N	1.905	M	.	.	-1.009	T	0.072	T	0.209	0.762	8.030	3.86	1.186	3.332	11.145	0.086	.	.	0.00159744	0.0011	0	8.703e-05	0.0150	0	0	0	6.065e-05	0.0009573	148	154602	rs200859609	0.0004	0.0004	0.0003	0.0004	0.0117	0.0003	0.0003	0.0108	0.0105	0	0	0	0.0117	0	0	5.398e-06	0.0007	0.0002	0.0005	0.0005	0.0004	0.0005	0.0128	0.0004	0.0004	0.0103	0.0094	0	0	0.0004	0	0.0128	0	0	0	0.0009	0	0.027	0.58626	D	0.423	0.62352	T	0.779	0.44223	P	0.177	0.35687	B	0.126177	0.18814	N	0.553824	1	0.08975	N	2.78	0.81115	M	.	.	.	-1.75	0.45404	N	0.333	0.37820	-1.0092	0.27167	T	0.072	0.29098	T	9	0.0046519935	0.00097	T	.	.	.	0.086	0.25016	.	.	0.209622950755	0.20551	0.1851376496143711	0.18431	0.201334601978	0.22533	0.328157424927	0.14656	T	0.178404	0.52904	T	-0.433669	0.01409	T	-0.382738	0.35401	T	0.0665746978342997	0.08161	T	0.734227	0.35027	T	0.05003569	0.08978	0.08015399	0.18106	0.05003569	0.08978	0.08015399	0.18106	-7.395	0.56869	T	.	.	0.102	0.22171	B	.;.	.;.	3.070616	0.41274	21.3	0.98581279728790761	0.43245	0.45273	0.27502	N	AEFBI	0.124874	0.24113	N	-0.250156032301205	0.31096	1.740337	-0.339082136321548	0.26849	1.485724	0.0900319818834573	0.16099	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	4.75	3.86	0.43689	3.677000	0.54354	5.612000	0.49058	0.549000	0.26987	0.382000	0.26022	1.000000	0.68203	0.466000	0.28252	0.0:0.9077:0.0:0.0922	11.145	0.47648	668	0.61153	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1554.98	34	chr3	121872672	.	C	T	1554.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.662;DP=782;ExcessHet=0.0000;FS=1.669;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.20;ReadPosRankSum=-1.283e+00;SOR=0.533	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,950	20	0	1	0
chr3	121886372	121886372	G	A	exonic	EAF2	.	nonsynonymous SNV	EAF2:NM_001320041:exon5:c.G377A:p.S126N	.	.	.	.	.	.	.	.	.	.	.	733716	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.993	D	0.979	D	0.000	D	1.000	D	2.31	M	.	.	-0.257	T	0.346	T	0.192	4.019	20.6	5.6	2.932	3.950	15.054	0.205	0.0106571620148	0.0020	0.00119808	0.0018	0.0002	0.0005	0	0.0020	0.0029	0.0045	0.0004	0.0018952	293	154602	rs139737449	0.0027	0.0027	0.0026	0.0027	0.0032	0.0026	0.0026	0.0031	0.0031	0.0003	0.0007	4.303e-05	0	0.0018	0	0.0032	0.0019	0.0003	0.0022	0.0022	0.0023	0.0021	0.0034	0.0020	0.0020	0.0031	0.0029	0.0008	0.0515	0.0006	0	0	0.0017	0	0.0034	0.0005	0	0.0	0.91255	D	0.012	0.63918	D	0.993	0.65571	D	0.979	0.74454	D	0.000000	0.84330	D	0.000000	0.999991	0.58761	D	3.02	0.86243	M	.	.	.	-2.06	0.47175	N	0.294	0.33250	-0.2570	0.76169	T	0.346	0.71091	T	9	0.008835763	0.00200	T	0.010657	0.27451	T	0.205	0.49236	.	.	0.426904299391	0.42305	0.15620536721661477	0.15541	0.0886662407375	0.10026	0.534096479416	0.43612	T	0.379086	0.74191	T	-0.341723	0.05269	T	-0.266374	0.48185	T	0.0827573227583327	0.10336	T	0.825817	0.48860	T	0.5826488	0.71753	0.6022561	0.76888	0.5826488	0.71754	0.6022561	0.76889	-10.387	0.76195	D	.	.	0.444	0.61918	A	.	.	3.783264	0.54409	23.5	0.99497674530562974	0.67859	0.93885	0.59473	D	AEFI	0.459915	0.51032	N	0.78381610389558	0.85081	8.471639	0.763019819377114	0.87127	9.115957	0.920105505261259	0.26622	0.732398	0.92422	0	0.743671	0.97443	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.6	5.6	0.84997	4.096000	0.57463	9.776000	0.81575	0.669000	0.69127	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	15.054	0.71563	675	0.60470	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	202.0	18	chr3	121886372	.	G	A	202.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.07;DP=353;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0262;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=0.423;SOR=0.941	GT:AD:DP:GQ:PL	0/0:13,0:13:39:0,39,328	20	0	1	0
chr3	122261775	122261775	C	T	exonic	CASR	.	nonsynonymous SNV	CASR:NM_000388:exon4:c.C740T:p.S247F	Hypercalciuric hypercalcemia (3);Hyperparathyroidism, neonatal, Autosomal recessive, Autosomal dominant;Hypocalcemia, autosomal dominant, Autosomal dominant;Hypocalcemia, autosomal dominant, with Bartter syndrome, Autosomal dominant;Hypocalciuric hypercalcemia, type I, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	75403	Autosomal_dominant_hypocalcemia_1|Familial_hypocalciuric_hypercalcemia|Nephrolithiasis/nephrocalcinosis|not_provided	MONDO:MONDO:0011013,MedGen:C0342345,OMIM:601198|MONDO:MONDO:0018458,MedGen:C1809471,OMIM:PS145980,Orphanet:405|MedGen:CN580796|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.68	T	0.002	B	0.007	B	0.000	D	0.939	D	0.185	N	-1.81	D	-0.661	T	0.305	T	0.263	0.598	7.223	5.27	2.941	2.637	9.546	0.258	0.00794241573943	0.0002	.	3.295e-05	0	0	0	0.0002	4.495e-05	0	0	2.59e-05	4	154602	rs200382161	5.404e-05	5.404e-05	5.309e-05	5.5e-05	0.0003	4.41e-05	4.082e-05	6.092e-05	4.042e-05	2.987e-05	0	3.826e-05	0	0.0001	0.0003	5.036e-05	6.623e-05	0.0001	9.846e-05	9.842e-05	8.992e-05	0.0001	0.0002	6.001e-05	4.875e-05	6.803e-05	5.087e-05	2.405e-05	0	6.533e-05	0	0	0.0003	0	0.0001	0	0.0002	0.667	0.04602	T	0.687	0.05995	T	0.002	0.09854	B	0.007	0.12992	B	0.000184	0.48115	D	0.252696	0.939	0.37231	D	0.175	0.09039	N	-1.81	0.83970	D	0.25	0.04456	N	0.171	0.18239	-0.6611	0.62228	T	0.305	0.67621	T	10	0.1483809	0.28099	T	0.007942	0.21059	T	0.258	0.56959	.	.	0.849203263486	0.84775	0.7786154728644107	0.77812	0.662870960301	0.58999	0.515841424465	0.41041	T	0.307688	0.67982	T	-0.269948	0.11763	T	-0.293473	0.45411	T	0.224615469574928	0.21691	T	0.89531	0.63576	D	0.29192775	0.52171	0.12875214	0.30970	0.22490397	0.45142	0.14206739	0.33809	-4.143	0.25922	T	0.10314840728606874	0.07921	0.193	0.54324	B	.;.;.;.	.;.;.;.	2.918730	0.38741	20.8	0.76760433107383141	0.11598	0.82319	0.41564	D	AEFBI	0.409866	0.48097	N	-0.200222562687564	0.33125	1.875818	0.0598826173605014	0.42550	2.575718	0.999999277687057	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	6.17	5.27	0.73797	2.659000	0.46406	7.708000	0.66649	0.596000	0.33519	0.998000	0.41325	1.000000	0.68203	0.997000	0.79791	0.1426:0.7871:0.0:0.0704	9.546	0.38444	400	0.82730	Receptor, ligand binding region;Receptor, ligand binding region;Receptor, ligand binding region;Receptor, ligand binding region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1437.98	33	chr3	122261775	.	C	T	1437.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.120e-01;DP=828;ExcessHet=0.0000;FS=1.393;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.98;ReadPosRankSum=-4.850e-01;SOR=0.635	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1480	20	0	1	0
chr3	122407349	122407349	C	T	exonic	FAM162A	.	nonsynonymous SNV	FAM162A:NM_014367:exon4:c.C332T:p.T111M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	0.998	D	2.945	M	0.33	T	-0.044	T	0.442	T	0.754	3.195	16.70	5.48	2.861	5.148	14.735	0.434	0.024124601222	.	0.000399361	5.801e-05	0	0	0	0	5.998e-05	0	0.0002	5.82e-05	9	154602	rs192168910	2.531e-05	2.531e-05	1.77e-05	3.3e-05	0.0002	1.868e-05	1.631e-05	0.0001	0.0001	0.0001	2.236e-05	0	0	0	0	1.169e-05	0	0.0002	1.972e-05	1.969e-05	2.571e-05	1.345e-05	4.411e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.984	0.82059	D	0.000000	0.84330	D	0.000000	0.998417	0.44886	D	3.455	0.92281	M	0.33	0.58323	T	-5.65	0.87988	D	0.681	0.73195	-0.0436	0.81342	T	0.442	0.77996	T	10	0.67264986	0.70805	D	0.024125	0.47114	T	0.434	0.73951	.	.	0.847343960394	0.84588	0.9789715339772871	0.97888	0.869077786447	0.69330	0.619163870811	0.55611	T	0.22133	0.61148	T	0.036972	0.56647	T	0.0179852	0.71500	D	0.94375479221344	0.61923	D	0.941606	0.78180	D	0.8061549	0.84302	0.73819023	0.84525	0.8061549	0.84303	0.73819023	0.84526	-10.662	0.77772	D	.	.	0.365	0.57554	A	.;.;.	.;.;.	5.053819	0.84195	28.2	0.99903144242481068	0.97426	0.94132	0.60209	D	AEFGBI	0.850700	0.76754	D	0.77084504987289	0.84256	8.236882	0.684177440956802	0.81178	7.466219	0.999995492719852	0.74766	0.732398	0.92422	0	0.723133	0.82719	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.48	5.48	0.80675	4.771000	0.62011	6.019000	0.52765	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.859000	0.40722	0.0:1.0:0.0:0.0	14.735	0.69023	478	0.77585	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	959.98	33	chr3	122407349	.	C	T	959.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.24;DP=783;ExcessHet=0.0000;FS=1.688;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.11;ReadPosRankSum=-6.650e-01;SOR=0.712	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1132	20	0	1	0
chr3	122613147	122613147	C	T	exonic	PARP15	.	nonsynonymous SNV	PARP15:NM_001113523:exon4:c.C650T:p.A217V,	.	.	430	1075	15	2	0	19	0.0087598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.818	P	0.395	B	0.348	N	1.000	N	1.995	M	1.92	T	-1.066	T	0.040	T	0.247	3.899	19.82	0.533	-0.077	-0.555	3.627	0.050	.	0.0035	0.00359425	0.0052	0.0005	0.0098	0	0.0068	0.0078	0.0082	0.0033	0.0018305	283	154602	rs115391654	0.0061	0.0059	0.0062	0.0061	0.0091	0.0060	0.0060	0.0071	0.0064	0.0007	0.0061	0.0147	0	0.0096	0.0091	0.0062	0.0069	0.0038	0.0059	0.0060	0.0058	0.0060	0.0083	0.0056	0.0055	0.0071	0.0067	0.0015	0.0450	0.0083	0.0138	0	0.0105	0.0136	0.0070	0.0123	0.0019	0.237	0.17881	T	0.278	0.21812	T	.	.	.	.	.	.	0.347510	0.13867	N	0.539912	1	0.08975	N	2.35	0.67516	M	1.92	0.23082	T	-1.49	0.36385	N	0.148	0.15046	-1.0660	0.10316	T	0.040	0.17191	T	10	0.0022678673	0.00033	T	.	.	.	0.050	0.13987	.	.	0.277730125212	0.27379	0.14178615770318756	0.14101	0.0566026910345	0.06256	0.252531707287	0.04039	T	0.00353	0.02940	T	-0.529994	0.00384	T	-0.528386	0.19448	T	0.017890880099826	0.00516	T	0.687331	0.29630	T	0.0743932	0.16690	0.07561885	0.16665	0.0743932	0.16690	0.07561885	0.16665	-5.407	0.40987	T	.	.	0.119	0.24599	B	.	.	1.252682	0.16495	12.58	0.99735775136355387	0.83119	0.04654	0.10327	N	AEFBI	0.088611	0.17964	N	-0.403587424533961	0.25344	1.375038	-0.544282870239029	0.20957	1.13152	0.783110904757448	0.23880	0.722319	0.85440	0	0.698795	0.70079	0	0.547309	0.15389	0	0.566403	0.31848	0	.	.	4.61	0.533	0.16315	-0.628000	0.05611	-1.072000	0.06417	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.986000	0.61781	0.4239:0.3566:0.1379:0.0815	3.627	0.07659	498	0.76166	Macro domain|Macro domain|Macro domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2115.98	33	chr3	122613147	.	C	T	2115.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.328e+00;DP=914;ExcessHet=0.0000;FS=4.989;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=-2.870e-01;SOR=0.781	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1119	20	0	1	0
chr3	122703808	122703808	C	T	exonic	PARP14	.	nonsynonymous SNV	PARP14:NM_017554:exon7:c.C3148T:p.L1050F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.483	P	0.28	B	0.137	N	0.770	D	1.355	L	1.75	T	-1.037	T	0.042	T	0.162	0.972	8.968	-2.45	-0.308	-0.670	4.902	0.041	0.00931352590817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.19090	T	0.11	0.37310	T	0.483	0.36807	P	0.28	0.40294	B	0.137300	0.18418	N	0.477166	0.770379	0.34144	D	2.1	0.58353	M	1.75	0.26152	T	-2.42	0.53096	N	0.379	0.42050	-1.0374	0.18109	T	0.042	0.18160	T	10	0.124869645	0.23722	T	0.009314	0.24436	T	0.041	0.10877	0.62	0.75461	0.325263233342	0.32141	0.7005462941829526	0.69995	0.281082333658	0.30582	0.315888136625	0.12798	T	0.066202	0.32886	T	-0.240462	0.15289	T	-0.583184	0.14261	T	0.0645118252895291	0.07859	T	0.689031	0.29821	T	0.17443798	0.38248	0.13000214	0.31247	0.17443798	0.38248	0.13000214	0.31246	-7.71	0.59077	D	.	.	0.189	0.40746	B	.	.	1.271228	0.16702	12.71	0.97904306930612373	0.36766	0.09887	0.15539	N	AEFBCI	0.062287	0.11963	N	-0.86056323138306	0.11791	0.570989	-0.950751675013113	0.10905	0.5522981	0.991033208911203	0.32351	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.41	-2.45	0.06107	-0.565000	0.06020	-2.279000	0.03958	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.425000	0.27339	0.43:0.3284:0.0:0.2416	4.902	0.13135	852	0.35056	Macro domain|Macro domain|Macro domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1472.98	38	chr3	122703808	.	C	T	1472.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.352;DP=842;ExcessHet=0.0000;FS=1.509;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=0.740;SOR=0.517	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1407	20	0	1	0
chr3	122915494	122915494	C	A	exonic	SEMA5B	.	nonsynonymous SNV	SEMA5B:NM_001256348:exon13:c.G1760T:p.R587L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.988	D	0.888	P	0.000	N	1.000	D	1.205	L	2.3	T	-1.113	T	0.072	T	0.816	4.265	22.3	3.86	1.159	3.100	13.313	0.266	0.0271615656054	.	.	2.491e-05	0	0	0	0	4.526e-05	0	0	1.94e-05	3	154602	rs751602604	5.474e-06	6.156e-06	4.084e-06	6.877e-06	7.195e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.195e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.55530	D	0.042	0.57587	D	0.979	0.59044	D	0.776	0.57120	P	0.000000	0.84330	N	0.052661	0.999998	0.58761	D	1.455	0.36767	L	2.3	0.16953	T	-4.15	0.75297	D	0.469	0.57775	-1.1130	0.02824	T	0.072	0.29195	T	10	0.43907714	0.57984	T	0.027162	0.50001	D	0.266	0.57999	0.425	0.47021	0.546306241058	0.54285	0.5987394325557115	0.59804	1.01298021162	0.74837	0.393195450306	0.24119	T	0.426602	0.77634	T	-0.0322825	0.47085	T	-0.176491	0.56846	T	0.936541497707367	0.60563	D	0.844815	0.52285	T	0.5152668	0.67987	0.3882292	0.63672	0.5152668	0.67988	0.3882292	0.63672	-5.5	0.41868	T	.	.	0.096	0.17146	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.793859	0.54627	23.5	0.99823649383112245	0.90590	0.94583	0.61639	D	AEFDBI	0.717768	0.66917	D	0.34733662851886	0.58599	4.033122	0.336665645191031	0.57707	3.937611	0.980646401855209	0.30160	0.695654	0.57023	0	0.578056	0.33634	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	4.75	3.86	0.43689	2.722000	0.46939	1.428000	0.26422	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1591:0.8409:0.0:0.0	13.313	0.59828	699	0.57969	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1149.98	33	chr3	122915494	.	C	A	1149.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.307e+00;DP=791;ExcessHet=0.0000;FS=0.779;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=-1.373e+00;SOR=0.608	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr3	123271708	123271708	G	A	exonic	SEC22A	.	nonsynonymous SNV	SEC22A:NM_012430:exon7:c.G910A:p.D304N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.825	P	0.000	D	1.000	D	2.485	M	1.98	T	-0.914	T	0.144	T	0.104	4.960	28.9	5.84	2.765	9.476	20.139	0.199	0.0533765115749	.	.	1.661e-05	0	0.0002	0	0	0	0	0	1.94e-05	3	154602	rs763566783	1.437e-05	1.437e-05	1.225e-05	1.65e-05	0.0001	9.23e-06	7.84e-06	5.849e-05	3.758e-05	0.0001	0.0001	0	0	0	0	6.296e-06	0	4.638e-05	3.286e-05	3.283e-05	3.854e-05	2.69e-05	0.0002	1.261e-05	7.98e-06	1.92e-05	1.032e-05	7.24e-05	0	0	0	0	0	0	0	0.0005	0.0002	0.0	0.91255	D	0.329	0.18617	T	0.998	0.73220	D	0.825	0.59331	P	0.000000	0.84330	D	0.046596	1	0.81001	D	2.66	0.77858	M	1.98	0.21865	T	-1.49	0.36385	N	0.636	0.64903	-0.9145	0.46285	T	0.144	0.46605	T	10	0.41024202	0.56174	T	0.053377	0.65443	D	0.199	0.48268	0.244	0.17830	0.591365477771	0.58813	0.7519831047034059	0.75145	0.341506169282	0.36087	0.658751726151	0.61231	T	0.061	0.31643	T	-0.327694	0.06287	T	-0.453441	0.27318	T	0.532513809081598	0.33827	D	0.945605	0.79272	D	0.39972082	0.60713	0.41291514	0.65480	0.39972082	0.60713	0.41291514	0.65481	-4.374	0.29202	T	.	.	0.116	0.23360	B	.;.	.;.	5.134397	0.85931	28.8	0.99884157485778358	0.95970	0.99351	0.94882	D	AEFDGBIJ	0.903019	0.85162	D	0.890875063535803	0.91304	10.817	0.889061160171714	0.95078	13.29178	1.0	0.98316	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.84	5.84	0.93373	9.602000	0.97623	11.771000	0.95863	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:1.0:0.0	20.139	0.98050	635	0.64580	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1295.98	34	chr3	123271708	.	G	A	1295.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.73;DP=826;ExcessHet=0.0000;FS=3.850;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=0.105;SOR=1.102	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr3	123304083	123304083	G	A	exonic	ADCY5	.	nonsynonymous SNV	ADCY5:NM_001199642:exon13:c.C1493T:p.A498V	Dyskinesia, familial, with facial myokymia, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.07	B	0.007	B	0.000	D	0.877	D	-0.55	N	0.73	T	-1.040	T	0.057	T	0.379	3.038	16.14	4.57	2.359	9.649	17.547	0.164	0.00733141178599	7.7e-05	.	2.48e-05	0	8.673e-05	0	0	1.504e-05	0	6.075e-05	1.94e-05	3	154602	rs150642009	1.027e-05	1.026e-05	2.725e-06	1.789e-05	0.0003	6.17e-06	4.89e-06	6.098e-05	2.523e-05	5.976e-05	0	0	0	0	0.0003	6.3e-06	0	4.639e-05	3.292e-05	3.284e-05	5.145e-05	1.348e-05	7.258e-05	1.263e-05	7.99e-06	1.924e-05	1.033e-05	7.258e-05	0	6.555e-05	0	0	0	0	0	0.0005	0	0.259	0.28395	T	0.724	0.06071	T	0.07	0.23866	B	0.007	0.12992	B	0.000120	0.50451	D	0.083086	0.876674	0.35668	D	0.695	0.17993	N	0.73	0.50721	T	-1.45	0.35597	N	0.422	0.47395	-1.0400	0.17313	T	0.057	0.24018	T	10	0.21972695	0.38651	T	0.007331	0.19442	T	0.164	0.42212	.	.	0.422182357427	0.41838	0.7550039325943116	0.75447	0.402954233708	0.41245	0.472196340561	0.34982	T	0.443679	0.78737	T	-0.132082	0.31160	T	-0.330649	0.41398	T	0.511712074279785	0.33061	D	0.880812	0.66782	D	0.13029046	0.30405	0.13843083	0.33060	0.13029046	0.30405	0.13843083	0.33059	-10.477	0.78185	D	0.13523892028924145	0.14680	0.439	0.63057	A	.;.;.;.	.;.;.;.	4.706152	0.75561	26.4	0.99262555123546026	0.57255	0.99478	0.96523	D	AEFBI	0.948136	0.95943	D	-0.167204400031068	0.34505	1.970318	0.0796551720714635	0.43527	2.652615	0.999999807192064	0.74766	0.634777	0.41761	0	0.59043	0.45803	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	4.57	4.57	0.55860	9.995000	0.99281	11.584000	0.93361	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.676000	0.33425	0.0:0.0:1.0:0.0	17.547	0.87761	624	0.65661	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2624.98	37	chr3	123304083	.	G	A	2624.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.565;DP=947;ExcessHet=0.0000;FS=10.121;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.74;ReadPosRankSum=0.680;SOR=0.748	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr3	123528394	123528394	C	T	exonic	HACD2	.	nonsynonymous SNV	HACD2:NM_001329786:exon3:c.G40A:p.V14I	.	.	429	1091	2	0	0	2	0.000915751	.	.	2353980	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.48	T	0.613	P	0.172	B	0.000	D	1.000	D	0.585	N	1.56	T	-1.086	T	0.046	T	0.336	2.040	12.78	4.94	2.440	5.922	15.428	0.083	0.00753305947364	0.0002	.	0.0001	0.0001	0.0005	0	0	0.0001	0	0	9.06e-05	14	154602	rs202187144	0.0001	0.0001	0.0001	0.0002	0.0054	0.0001	0.0001	0.0039	0.0034	0.0001	0.0006	0	0	0	0.0054	0.0001	0.0003	4.653e-05	0.0001	0.0001	0.0001	0.0001	0.0002	8.173e-05	6.728e-05	0.0001	8.877e-05	4.828e-05	0	0.0001	0	0	0	0	0.0002	0.0005	0.0002	0.575	0.08559	T	0.581	0.08476	T	0.613	0.39753	P	0.172	0.35394	B	0.000006	0.62929	D	0.062067	0.999996	0.58761	D	0.24	0.09707	N	1.56	0.29602	T	-0.31	0.12661	N	0.369	0.41063	-1.0860	0.06227	T	0.046	0.19720	T	10	0.07929033	0.12737	T	0.007533	0.19979	T	0.083	0.24192	.	.	0.0675242888579	0.06100	0.46724219308350895	0.46643	0.660611883695	0.58878	0.628473460674	0.56928	T	0.00759	0.06987	T	-0.376745	0.03266	T	-0.444795	0.28273	T	0.0279592877366871	0.01683	T	0.788221	0.46890	T	0.065478735	0.13998	0.07296085	0.15800	0.065478735	0.13998	0.07296085	0.15800	-6.566	0.50793	T	.	.	0.135	0.29339	B	.;.	.;.	3.547479	0.49856	22.8	0.97872424511323142	0.36540	0.72571	0.35516	D	AEFBHCI	0.641725	0.61896	D	0.128755976651392	0.47808	3.001382	0.271933121642397	0.53906	3.557516	0.999999966736717	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.94	4.94	0.64645	5.805000	0.68809	5.934000	0.51367	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	15.428	0.74794	769	0.49307	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2962.08	103	chr3	123528394	.	C	T	2962.08	.	AC=2;AF=0.048;AN=42;DP=836;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.76;SOR=1.022	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,99,1485	20	1	0	0
chr3	123618692	123618692	C	T	exonic	MYLK	.	nonsynonymous SNV	MYLK:NM_053031:exon2:c.G164A:p.R55H	Aortic aneurysm, familial thoracic 7, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	224256	Aortic_aneurysm,_familial_thoracic_7|Megacystis-microcolon-intestinal_hypoperistalsis_syndrome_1|not_specified|Familial_thoracic_aortic_aneurysm_and_aortic_dissection	MONDO:MONDO:0013418,MedGen:C3151077,OMIM:613780|MONDO:MONDO:0100354,MedGen:C5542316,OMIM:249210|MedGen:CN169374|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.53	T	0.161	B	0.052	B	.	.	0.929	N	1.915	M	-0.32	T	-0.908	T	0.205	T	0.522	2.689	14.95	4.43	2.788	0.518	6.380	0.212	0.0315122723525	7.7e-05	.	1.65e-05	9.662e-05	0	0	0	1.5e-05	0	0	1.29e-05	2	154602	rs140636141	3.899e-05	3.899e-05	4.22e-05	3.575e-05	4.586e-05	3.047e-05	2.783e-05	3.545e-05	3.204e-05	2.987e-05	4.472e-05	0	0	0	0	4.586e-05	3.311e-05	1.159e-05	1.972e-05	1.97e-05	0	4.036e-05	0.0002	5.24e-06	2.45e-06	.	.	2.414e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	0.077	0.39334	T	0.204	0.30729	T	0.027	0.24142	B	0.014	0.25551	B	.	.	.	.	0.929256	0.36920	D	1.74	0.45129	L	-0.32	0.68181	T	-2.04	0.56945	N	0.401	0.44187	-0.9077	0.47133	T	0.205	0.56348	T	9	0.17343271	0.32170	T	0.031512	0.53573	D	0.212	0.50341	.	.	0.714809018452	0.71230	0.3741655613804889	0.37330	2.0033223038	0.93854	0.589194417	0.51380	T	0.311265	0.68316	T	-0.134829	0.30717	T	-0.249921	0.49825	T	0.130327085275269	0.15412	T	0.937706	0.80233	D	0.06125237	0.12662	0.066317216	0.13568	0.06125237	0.12662	0.066317216	0.13568	-4.652	0.47631	T	0.14834684009880258	0.17263	0.232	0.48968	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.780138	0.54344	23.5	0.99482758781400327	0.66959	0.47370	0.27967	N	AEFDBCIJ	0.241523	0.36313	N	-0.190924192477255	0.33511	1.902029	-0.0666920468365798	0.36776	2.144623	0.999995507622548	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.37	4.43	0.52967	0.917000	0.28286	4.169000	0.42261	0.599000	0.40250	0.695000	0.28578	1.000000	0.68203	0.975000	0.56047	0.2401:0.6683:0.0:0.0916	6.380	0.20729	639	0.64210	.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1721.98	35	chr3	123618692	.	C	T	1721.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.940e-01;DP=927;ExcessHet=0.0000;FS=0.577;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=-6.240e-01;SOR=0.746	GT:AD:DP:GQ:PL	0/1:84,76:160:99:1736,0,1931	20	0	1	0
chr3	123647309	123647309	T	C	exonic	MYLK	.	nonsynonymous SNV	MYLK:NM_001321309:exon26:c.A4006G:p.I1336V	Aortic aneurysm, familial thoracic 7, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1460591	Aortic_aneurysm,_familial_thoracic_7|Familial_thoracic_aortic_aneurysm_and_aortic_dissection	MONDO:MONDO:0013418,MedGen:C3151077,OMIM:613780|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.597	P	0.269	B	.	.	1.000	D	1.02	L	-0.18	T	-0.754	T	0.186	T	0.362	2.879	15.59	5.38	2.023	6.163	15.396	0.160	0.0161493689211	.	.	1.648e-05	0	8.643e-05	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs756490769	4.104e-06	4.104e-06	6.806e-06	1.375e-06	0.0002	1.48e-06	9.7e-07	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0.0002	2.698e-06	0	0	6.568e-06	6.567e-06	1.284e-05	0	6.54e-05	0	0	.	.	0	0	6.54e-05	0	0	0	0	0	0	0	0.004	0.68238	D	0.18	0.30339	T	0.196	0.39250	B	0.063	0.39840	B	.	.	.	.	0.999728	0.48557	D	0.555	0.15161	N	-0.18	0.65747	T	-0.79	0.22508	N	0.478	0.51851	-0.7541	0.57721	T	0.186	0.53631	T	9	0.31451458	0.48892	T	0.016149	0.37263	T	0.160	0.41473	0.669	0.80703	0.869021244668	0.86774	0.4495913349125772	0.44877	1.1300589259	0.78586	0.661642611027	0.61645	T	0.207764	0.56750	T	-0.128888	0.31676	T	-0.247068	0.50106	T	0.619846820831299	0.37200	D	0.806319	0.66280	T	0.28581187	0.51601	0.20253073	0.44286	0.28581187	0.51600	0.20253073	0.44285	-5.671	0.53343	T	0.5186741495085	0.59130	0.228	0.46596	B	.;.;.;.;.;.	.;.;.;.;.;.	3.770609	0.54161	23.5	0.99695888931622878	0.80248	0.96518	0.69540	D	AEFBI	0.852350	0.76925	D	0.158031019137023	0.49191	3.12243	0.308391460364746	0.56030	3.766117	0.99999999056206	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.38	5.38	0.77279	6.142000	0.71508	7.800000	0.69123	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.396	0.74514	551	0.72115	.;.;.;Protein kinase domain|Protein kinase domain|Protein kinase domain|Myosin Light Chain Kinase 1, Kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain|Myosin Light Chain Kinase 1, Kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1311.98	34	chr3	123647309	.	T	C	1311.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.039e+00;DP=824;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.79;ReadPosRankSum=-5.990e-01;SOR=0.752	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1440	20	0	1	0
chr3	123915489	123915489	T	C	exonic	CCDC14	.	nonsynonymous SNV	CCDC14:NM_001366336:exon9:c.A1552G:p.I518V	.	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.003	B	0.003	B	0.091	N	1.000	N	1.39	L	0.97	T	-1.092	T	0.079	T	0.039	-1.182	0.082	-0.562	-0.224	-0.131	1.234	0.012	0.00772551368973	.	.	0.0002	0	0	0	0.0005	0.0002	0	0	0.0001229	19	154602	rs199658457	5.678e-05	5.678e-05	6.398e-05	4.951e-05	0.0021	4.677e-05	4.302e-05	0.0012	0.0009	0	2.236e-05	3.826e-05	0	0.0006	0.0021	2.608e-05	0.0001	0	1.971e-05	1.97e-05	1.285e-05	2.689e-05	6.542e-05	5.24e-06	2.45e-06	.	.	0	0	6.542e-05	0	0	9.413e-05	0	1.47e-05	0	0	0.313	0.13879	T	0.352	0.18178	T	0.003	0.11197	B	0.003	0.08700	B	0.091429	0.02458	N	1.718240	1	0.08975	N	.	.	.	0.97	0.42502	T	0.12	0.05604	N	0.044	0.02272	-1.0918	0.05238	T	0.079	0.31405	T	10	0.042322814	0.02971	T	0.007726	0.20510	T	0.012	0.01476	.	.	0.126345400529	0.12197	0.06468752021759998	0.06407	0.0545018715558	0.06029	0.210254207253	0.00822	T	0.013564	0.11709	T	-0.5025	0.00553	T	-0.722915	0.04656	T	0.0469995399655386	0.04966	T	0.453455	0.12891	T	.	.	.	.	.	.	.	.	-2.679	0.07211	T	.	.	0.064	0.01715	B	.;.;.;.;.;.	.;.;.;.;.;.	0.082891	0.04883	1.470	0.18319176317038882	0.00571	0.03775	0.09092	N	AEFBI	0.048870	0.08385	N	-1.18859806791894	0.05171	0.2351344	-1.22846932344424	0.05457	0.2600742	0.0764249847978055	0.15727	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.01	-0.562	0.11192	-0.214000	0.09296	-1.294000	0.05792	-0.263000	0.06870	0.000000	0.06391	0.000000	0.08366	0.136000	0.19798	0.2205:0.1357:0.3399:0.3039	1.234	0.01831	727	0.54702	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1196.98	39	chr3	123915489	.	T	C	1196.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.837e+00;DP=902;ExcessHet=0.0000;FS=1.676;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=0.269;SOR=0.588	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1575	20	0	1	0
chr3	123955845	123955845	G	C	exonic	CCDC14	.	nonsynonymous SNV	CCDC14:NM_001366335:exon5:c.C350G:p.T117R,	.	.	.	.	.	.	.	.	.	0.0001	0.002	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.263	B	0.048	B	.	.	1.000	D	.	.	0.91	T	-1.091	T	0.059	T	0.371	1.866	12.20	1.29	0.126	0.684	3.853	0.030	0.0340101483177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.58613	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.171	0.18239	-1.0912	0.05335	T	0.059	0.24834	T	8	0.08301461	0.13765	T	0.03401	0.55380	D	0.030	0.07022	.	.	0.356897458496	0.35304	.	.	.	.	.	.	.	0.022028	0.17054	T	-0.0654578	0.42051	T	-0.331802	0.41268	T	0.0696924750473244	0.08608	T	0.531747	0.17685	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.22282	B	.	.	1.345652	0.17528	13.22	0.96071586476479354	0.28626	0.63290	0.32043	D	AEFGBI	0.182323	0.30965	N	-0.610083649503819	0.18640	0.9693889	-0.563239010380719	0.20455	1.102105	0.947279609381334	0.27745	0.706298	0.61202	0	0.633656	0.55848	0	0.65145	0.50148	0	0.613276	0.41899	0	.	.	5.08	1.29	0.20717	0.535000	0.22822	3.608000	0.39244	-0.275000	0.06596	0.832000	0.30162	0.996000	0.32793	0.410000	0.27006	0.6655:0.0:0.1785:0.1561	3.853	0.08472	823	0.40596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	736.98	33	chr3	123955845	.	G	C	736.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.600e-02;DP=783;ExcessHet=0.0000;FS=2.097;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=1.21;SOR=0.445	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1026	20	0	1	0
chr3	124227993	124227993	C	G	exonic	KALRN	.	nonsynonymous SNV	KALRN:NM_001024660:exon2:c.C71G:p.S24C	.	.	411	1108	2	1	0	4	0.0018018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.997	D	0.85	P	0.000	D	1.000	D	0.345	N	0.72	T	-0.737	T	0.208	T	0.336	2.547	14.48	5.03	2.616	2.979	18.547	0.069	0.0455498442617	.	.	8.237e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs780167418	1.916e-05	1.915e-05	8.169e-06	3.025e-05	0.0003	1.328e-05	1.144e-05	0.0002	0.0002	0	0	0	0	0	0.0002	2.698e-06	1.656e-05	0.0003	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.1	0.30800	T	0.105	0.38450	T	0.002	0.12183	B	0.004	0.14300	B	0.000006	0.62929	D	0.000000	0.990248	0.41118	D	0.695	0.17993	N	0.72	0.60854	T	-1.35	0.37759	N	0.542	0.56919	-0.7371	0.58601	T	0.208	0.56676	T	10	0.21902499	0.38560	T	0.04555	0.62032	D	0.080	0.23350	0.363	0.36874	0.473349154261	0.46962	0.9002264591533353	0.89994	1.3345040269	0.83722	0.770907640457	0.77560	T	0.023735	0.18066	T	-0.277445	0.10940	T	-0.344158	0.39873	T	0.192700389769645	0.20002	T	0.869013	0.57273	D	.	.	.	.	.	.	.	.	-4.183	0.26505	T	.	.	0.099	0.16582	B	.;.;.	.;.;.	4.811923	0.78289	26.9	0.95346242740078235	0.26724	0.94396	0.61032	D	AEFBI	0.445946	0.50221	N	0.0426262455742273	0.43803	2.666247	0.201401161042185	0.49926	3.190102	0.999987253316081	0.51787	0.516011	0.20929	0	0.573888	0.26702	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.03	5.03	0.67015	3.292000	0.51478	7.722000	0.67351	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.547	0.91003	626	0.65439	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	810.98	34	chr3	124227993	.	C	G	810.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.148;DP=811;ExcessHet=0.0000;FS=4.358;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.22;ReadPosRankSum=1.52;SOR=0.358	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,117,1500	20	0	1	0
chr3	124434406	124434406	G	A	exonic	KALRN	.	nonsynonymous SNV	KALRN:NM_001024660:exon17:c.G2923A:p.D975N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.971	D	0.666	P	0.000	D	1.000	D	0.345	N	-0.05	T	-0.851	T	0.195	T	0.085	3.821	19.41	5.08	2.644	9.411	18.664	0.248	0.0104833051279	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1188042863	4.104e-06	4.104e-06	2.722e-06	5.5e-06	0.0003	1.48e-06	9.7e-07	6.101e-05	2.525e-05	0	0	0	2.519e-05	3.744e-05	0.0003	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.31834	T	0.278	0.27855	T	0.299	0.32525	B	0.233	0.38358	B	0.000085	0.51296	D	0.128712	0.999999	0.58761	D	1.12	0.28775	L	-0.05	0.63403	T	-2.75	0.60827	D	0.242	0.31478	-0.8509	0.51905	T	0.195	0.54899	T	10	0.292915	0.46867	T	0.010483	0.27066	T	0.248	0.55615	0.734	0.86719	0.632960793232	0.62995	0.3941934791232357	0.39334	0.680550535386	0.60001	0.757168650627	0.75508	T	0.018762	0.15068	T	-0.253257	0.13701	T	-0.432435	0.29658	T	0.929276406764984	0.59324	D	0.982102	0.94028	D	.	.	.	.	.	.	.	.	-10.443	0.76519	D	.	.	0.086	0.15698	B	.;.;.	.;.;.	4.642704	0.73929	26.1	0.99841438871275534	0.92143	0.99577	0.97626	D	AEFBI	0.894755	0.83407	D	0.0441096050663226	0.43871	2.671742	0.159088239757195	0.47625	2.989986	0.999999999938808	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.08	5.08	0.68373	9.757000	0.98114	11.814000	0.97026	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.921000	0.45669	0.0:0.0:1.0:0.0	18.664	0.91442	670	0.60992	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2461.98	39	chr3	124434406	.	G	A	2461.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.640;DP=875;ExcessHet=0.0000;FS=5.392;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=-2.700e-02;SOR=0.409	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1160	20	0	1	0
chr3	124666624	124666624	G	C	exonic	KALRN	.	nonsynonymous SNV	KALRN:NM_001322998:exon12:c.G1331C:p.R444T	.	.	430	1082	10	0	0	10	0.00459982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.554	P	0.145	B	0.000	D	1.000	N	0.945	L	2.81	T	-0.992	T	0.018	T	0.408	1.412	10.66	2.33	0.333	1.320	9.861	0.077	0.00894769938932	7.7e-05	.	0.0004	0	0	0	0	0.0003	0	0.0013	0.0003363	52	154602	rs377746113	0.0002	0.0002	0.0002	0.0003	0.0033	0.0002	0.0002	0.0022	0.0018	2.988e-05	0	0.0001	0	0	0.0033	0.0001	0.0007	0.0014	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0005	0.0004	0	0	6.536e-05	0.0003	0	0	0.0034	0.0002	0.0019	0.0012	0.679	0.12511	T	0.35	0.38160	T	.	.	.	.	.	.	0.000119	0.50451	D	0.174460	0.988711	0.27154	N	.	.	.	2.81	0.10975	T	-0.97	0.54382	N	0.669	0.67736	-0.9920	0.32089	T	0.018	0.07329	T	10	0.053860247	0.05645	T	0.008948	0.23583	T	0.077	0.22490	.	.	0.399796912067	0.39594	.	.	.	.	0.513563036919	0.40721	T	0.008039	0.07400	T	-0.481088	0.00729	T	-0.523018	0.19990	T	0.0252927274991955	0.01311	T	0.952005	0.81652	D	.	.	.	.	.	.	.	.	-12.614	0.87712	D	.	.	0.659	0.81914	P	.;.	.;.	2.224631	0.28394	17.78	0.91391076135985883	0.20657	0.93012	0.57104	D	AEFBI	0.626106	0.60905	D	-0.333027978041312	0.27900	1.534514	-0.212025618532037	0.31101	1.757152	0.188877287282486	0.17973	0.581397	0.33459	0	0.588015	0.36545	0	0.565031	0.19037	0	0.620846	0.47308	0	.	.	5.04	2.33	0.27981	1.170000	0.31493	1.087000	0.23945	-0.123000	0.13640	1.000000	0.71638	0.999000	0.35428	0.985000	0.61073	0.2844:0.0:0.7156:0.0	9.861	0.40283	851	0.35303	Pleckstrin homology domain|Pleckstrin homology domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1171.98	34	chr3	124666624	.	G	C	1171.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.497e+00;DP=825;ExcessHet=0.0000;FS=0.653;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.09;ReadPosRankSum=0.929;SOR=0.625	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1089	20	0	1	0
chr3	124678258	124678258	A	C	exonic	KALRN	.	nonsynonymous SNV	KALRN:NM_001322993:exon17:c.A2168C:p.E723A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.231	B	0.081	B	0.003	N	1.000	D	0.55	N	0.52	T	-0.908	T	0.160	T	0.709	4.004	20.5	5.5	2.308	7.977	14.337	0.188	0.00852363313028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.26192	T	0.441	0.18789	T	.	.	.	.	.	.	0.002697	0.36102	N	0.237020	0.994496	0.42303	D	.	.	.	0.21	0.59983	T	-2.18	0.49187	N	0.536	0.56403	-0.9076	0.47145	T	0.160	0.49413	T	10	0.35967982	0.52630	T	0.008524	0.22532	T	0.188	0.46444	.	.	0.820359893004	0.81866	.	.	.	.	0.558271825314	0.47024	T	0.020609	0.16197	T	0.0935621	0.63589	D	-0.103381	0.63135	T	0.69426554441452	0.40446	D	0.90121	0.65680	D	.	.	.	.	.	.	.	.	-3.393	0.14963	T	.	.	0.195	0.48827	B	.;.	.;.	4.164113	0.62562	24.5	0.99230803790696565	0.56214	0.98810	0.87149	D	AEFBI	0.889077	0.82283	D	0.331911587833884	0.57792	3.948152	0.460343218329621	0.65382	4.816948	0.999998634513676	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.5	5.5	0.81386	7.958000	0.87417	9.429000	0.80790	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.337	0.66154	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1928.98	37	chr3	124678258	.	A	C	1928.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=868;ExcessHet=0.0000;FS=0.559;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=-5.160e-01;SOR=0.620	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1405	20	0	1	0
chr3	124796607	124796607	C	T	exonic	ITGB5	.	nonsynonymous SNV	ITGB5:NM_001354766:exon9:c.G1015A:p.G339S	.	.	423	1083	16	0	0	16	0.00733272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.027	B	0.032	B	0.004	N	0.985	D	2.7	M	-3.04	D	0.073	D	0.436	T	0.423	1.936	12.43	-9.34	-2.023	1.207	21.424	0.406	0.00966713533593	0.0025	0.00139776	0.0028	0.0020	0.0007	0	0.0014	0.0039	0.0022	0.0026	0.0026584	411	154602	rs146544547	0.0026	0.0026	0.0025	0.0027	0.0071	0.0026	0.0025	0.0054	0.0048	0.0024	0.0008	0.0235	7.557e-05	0.0016	0.0071	0.0023	0.0037	0.0027	0.0026	0.0026	0.0026	0.0025	0.0025	0.0023	0.0023	0.0021	0.0020	0.0025	0	0.0005	0.0239	0	0.0012	0.0068	0.0024	0.0033	0.0017	0.032	0.44694	D	0.104	0.38160	T	0.027	0.19556	B	0.032	0.22131	B	0.004342	0.33837	N	0.376550	0.985182	0.40248	D	2.19	0.61577	M	-3.04	0.92357	D	-4.36	0.76980	D	0.225	0.25253	0.073	0.83680	D	0.436	0.77580	T	10	0.009069353	0.00205	T	0.009667	0.25267	T	0.443	0.74588	.	.	0.897414439693	0.89640	0.6079610267606178	0.60728	0.231246687605	0.25667	0.314732968807	0.12622	T	0.775286	0.94018	D	-0.241278	0.15187	T	-0.123033	0.61552	T	0.0537767357385228	0.06151	T	0.867413	0.58144	D	0.15972339	0.35864	0.273749	0.53297	0.15972339	0.35864	0.273749	0.53296	-9.752	0.72414	D	.	.	0.110	0.22245	B	.;.	.;.	1.728717	0.22006	15.44	0.91700454378799534	0.20994	0.30022	0.23975	N	AEFDBHCI	0.246388	0.36715	N	-0.795015470330464	0.13439	0.6620696	-1.03859416473203	0.08945	0.4424407	0.999999999926663	0.74766	0.706548	0.73137	0	0.610034	0.51514	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	-9.34	0.00539	1.244000	0.32381	-0.209000	0.10871	-0.773000	0.03420	0.804000	0.29773	0.000000	0.08366	0.177000	0.21203	0.0:0.7953:0.0:0.2047	21.424	0.99955	883	0.28872	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1702.98	35	chr3	124796607	.	C	T	1702.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.45;DP=1096;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.20;ReadPosRankSum=-5.310e-01;SOR=0.634	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1170	20	0	1	0
chr3	124796785	124796785	G	C	exonic	ITGB5	.	nonsynonymous SNV	ITGB5:NM_001354766:exon9:c.C837G:p.S279R	.	.	424	1083	15	0	0	15	0.00687758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.014	B	0.016	B	0.000	N	1.000	D	0.415	N	-0.18	T	-0.920	T	0.143	T	0.489	1.826	12.06	4.32	2.735	4.380	14.465	0.061	0.0129158891781	0.0004	0.000399361	0.0012	0	0.0002	0	0	0.0007	0.0012	0.0063	0.0009508	147	154602	rs150312150	0.0006	0.0006	0.0004	0.0008	0.0059	0.0006	0.0006	0.0054	0.0053	0	0.0003	0.0046	0	0	0.0035	0.0002	0.0007	0.0059	0.0005	0.0005	0.0005	0.0005	0.0046	0.0004	0.0004	0.0031	0.0026	9.62e-05	0	0.0007	0.0052	0	0	0	0.0004	0	0.0046	0.052	0.39097	T	0.249	0.23776	T	0.014	0.16867	B	0.016	0.17743	B	0.000000	0.84330	N	0.086462	0.999955	0.52396	D	1.665	0.42610	L	-0.18	0.65747	T	-2.15	0.48687	N	0.457	0.49420	-0.9201	0.45540	T	0.143	0.46532	T	10	0.022109747	0.00544	T	0.012916	0.31907	T	0.148	0.39182	0.367	0.37524	0.746073329902	0.74378	0.6587996648570885	0.65816	0.744109997126	0.63423	0.430301964283	0.29249	T	0.612137	0.87723	D	-0.322596	0.06687	T	-0.234382	0.51345	T	0.0383054088154707	0.03386	T	0.831417	0.60805	T	0.3502235	0.57085	0.3172702	0.57702	0.3502235	0.57085	0.3172702	0.57702	-4.225	0.27112	T	.	.	0.333	0.55424	B	.;.	.;.	2.870006	0.37944	20.6	0.99215733822871466	0.55747	0.93104	0.57338	D	AEFDBHCI	0.797201	0.72411	D	-0.0933624009340882	0.37683	2.195936	0.100109165932602	0.44555	2.734984	0.999999973673797	0.74766	0.706548	0.73137	0	0.610034	0.51514	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	5.26	4.32	0.50899	4.672000	0.61290	4.393000	0.43220	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0811:0.0:0.9189:0.0	14.465	0.67053	878	0.29785	Integrin beta subunit, VWA domain;Integrin beta subunit, VWA domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	855.98	35	chr3	124796785	.	G	C	855.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.508e+00;DP=797;ExcessHet=0.0000;FS=1.106;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.02;ReadPosRankSum=0.193;SOR=0.467	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1170	20	0	1	0
chr3	125001863	125001863	C	T	exonic	HEG1	.	nonsynonymous SNV	HEG1:NM_020733:exon11:c.G3506A:p.R1169Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.998	D	0.811	P	0.314	U	1.000	N	0.695	N	-2.37	D	0.281	D	0.846	D	0.374	1.518	11.03	5.65	2.941	0.802	9.648	0.327	0.0651322746164	.	0.000199681	0.0002	0.0001	0	0	0	5.266e-05	0	0.0015	0.0001617	25	154602	rs528833591	6.847e-05	6.909e-05	3.269e-05	0.0001	0.0010	5.718e-05	5.331e-05	0.0008	0.0008	5.975e-05	0	0	5.042e-05	0	0	7.198e-06	3.315e-05	0.0010	4.596e-05	4.593e-05	1.285e-05	8.056e-05	0.0006	2.108e-05	1.526e-05	0.0002	8.996e-05	4.813e-05	0	6.534e-05	0	0	0	0	1.47e-05	0	0.0006	0.029	0.45756	D	0.252	0.23570	T	0.998	0.73220	D	0.811	0.58656	P	0.313777	0.14388	U	0.503050	1	0.08975	N	1.79	0.46772	L	-2.37	0.97218	D	-2.06	0.52612	N	0.273	0.30914	0.281	0.87251	D	0.846	0.94843	D	10	0.03726062	0.02070	T	0.065132	0.69487	D	0.327	0.64926	0.52	0.62217	0.901112211887	0.90013	0.42016296476931464	0.41932	0.443254346901	0.44260	0.372453123331	0.21183	T	0.076461	0.35424	T	-0.144427	0.29187	T	-0.0306773	0.68323	D	0.101276060207108	0.12496	T	0.843516	0.52087	T	0.0930566	0.21847	0.077035055	0.17122	0.0930566	0.21847	0.077035055	0.17122	-6.1	0.47109	T	.	.	0.155	0.34339	B	.;.	.;.	3.724936	0.53253	23.3	0.99292056536831141	0.58290	0.34456	0.25071	N	AEFDGBHCI	0.073364	0.14672	N	0.0764079699057364	0.45364	2.794156	0.0557014538911373	0.42349	2.559859	0.999999910933021	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	0.796000	0.26646	4.717000	0.44485	0.599000	0.40250	0.000000	0.06391	0.831000	0.27213	0.975000	0.56047	0.1568:0.6922:0.151:0.0	9.648	0.39042	496	0.76301	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1121.98	39	chr3	125001863	.	C	T	1121.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=774;ExcessHet=0.0000;FS=0.976;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.75;ReadPosRankSum=0.772;SOR=0.543	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1278	20	0	1	0
chr3	125012932	125012932	G	C	exonic	HEG1	.	nonsynonymous SNV	HEG1:NM_020733:exon6:c.C2647G:p.L883V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.015	B	0.016	B	0.970	U	1.000	N	0	N	-2.31	D	-0.799	T	0.317	T	0.122	1.039	9.243	-1.34	-0.405	0.530	1.723	0.101	0.0540352125703	.	.	1.656e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs754504666	2.052e-06	2.052e-06	1.361e-06	2.751e-06	1.159e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.26519	T	0.204	0.27235	T	0.015	0.17086	B	0.007	0.12992	B	0.969826	0.08166	U	0.978980	1	0.08975	N	0	0.06538	N	-2.31	0.87750	D	0.35	0.03761	N	0.064	0.03613	-0.7986	0.55227	T	0.317	0.68682	T	10	0.06807715	0.09577	T	0.054035	0.65701	D	0.101	0.28911	0.392	0.41606	0.731102201737	0.72871	0.28231597016125304	0.28144	0.109492478908	0.12349	0.229819193482	0.01954	T	0.025633	0.19130	T	-0.120828	0.32989	T	-0.395852	0.33867	T	0.0410198347446246	0.03876	T	0.648535	0.25952	T	0.028463203	0.02186	0.0242524	0.00442	0.028463203	0.02186	0.0242524	0.00442	-2.693	0.07245	T	.	.	0.078	0.06849	B	.	.	0.722556	0.10914	7.586	0.88864588198854055	0.18318	0.21301	0.21353	N	AEFDGBI	0.078250	0.15784	N	-1.10262571229657	0.06596	0.3041011	-1.13551541946373	0.07031	0.3405072	0.99999870263115	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	4.54	-1.34	0.08665	0.770000	0.26280	.	.	0.676000	0.76740	0.128000	0.23311	0.027000	0.21108	0.005000	0.06747	0.1567:0.1304:0.3685:0.3444	1.723	0.02740	496	0.76301	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2220.98	82	chr3	125012932	.	G	C	2220.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.859e+00;DP=1615;ExcessHet=0.0000;FS=5.220;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=0.892;SOR=0.422	GT:AD:DP:GQ:PL	0/0:73,0:73:99:0,120,1800	20	0	1	0
chr3	125313457	125313457	C	T	exonic	ZNF148	.	nonsynonymous SNV	ZNF148:NM_001348426:exon3:c.G184A:p.E62K	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	0.888	P	0.355	B	0.000	D	1.000	D	0.55	N	3.06	T	-0.955	T	0.017	T	0.687	3.932	20.1	5.0	2.589	5.845	18.492	0.209	0.0111750144969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.91255	D	0.12	0.35970	T	0.888	0.48822	P	0.355	0.42984	B	0.000001	0.62929	D	0.055187	0.999981	0.81001	D	0.805	0.20218	L	3.06	0.08634	T	-0.71	0.74051	N	0.599	0.62696	-0.9554	0.40024	T	0.017	0.06950	T	10	0.35226458	0.52058	T	0.011175	0.28518	T	0.209	0.49871	0.395	0.42099	0.402048819238	0.39823	0.3936792549253413	0.39282	1.39432601691	0.85056	0.751922249794	0.74731	T	0.306134	0.67835	T	0.010738	0.53126	T	-0.222352	0.52509	T	0.877740383148193	0.52764	D	0.936606	0.77317	D	0.51327926	0.67871	0.24910183	0.50474	0.51327926	0.67872	0.24910183	0.50473	-5.387	0.40794	T	0.2834090095311207	0.37907	0.169	0.38836	B	.;.;.;.;.;.	.;.;.;.;.;.	4.501670	0.70410	25.5	0.99807925384421115	0.89174	0.96210	0.68040	D	AEFDGBHIJ	0.730719	0.67802	D	0.204064381631029	0.51396	3.321177	0.322315676778341	0.56853	3.849418	0.999999999979493	0.74766	0.741895	0.98168	0	0.724815	0.89359	0	0.724815	0.87919	0	0.725737	0.93299	0	.	.	5.0	5.0	0.66209	6.121000	0.71321	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.492	0.90802	727	0.54702	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2221.98	33	chr3	125313457	.	C	T	2221.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.000e+00;DP=879;ExcessHet=0.0000;FS=5.989;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=0.254;SOR=1.095	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1360	20	0	1	0
chr3	125313522	125313522	C	G	exonic	ZNF148	.	nonsynonymous SNV	ZNF148:NM_001348426:exon3:c.G119C:p.G40A	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, Autosomal dominant	.	437	1078	7	0	0	7	0.00323625	.	.	747950	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.85	T	0.083	B	0.023	B	0.000	D	1.000	D	0.345	N	3.16	T	-1.007	T	0.013	T	0.328	1.754	11.82	5.0	2.582	3.854	14.262	0.080	0.00452680711872	0.0015	0.000199681	0.0010	0	8.639e-05	0	0.0002	0.0016	0.0011	0.0007	0.0008861	137	154602	rs141167020	0.0006	0.0006	0.0006	0.0007	0.0026	0.0006	0.0006	0.0016	0.0013	2.987e-05	6.708e-05	0.0144	0	3.744e-05	0.0026	0.0004	0.0013	0.0006	0.0006	0.0006	0.0007	0.0006	0.0006	0.0005	0.0005	0.0004	0.0003	2.406e-05	0	0.0003	0.0141	0	9.418e-05	0	0.0005	0.0009	0.0006	0.344	0.12920	T	0.98	0.02423	T	0.083	0.24734	B	0.023	0.19966	B	0.000083	0.51296	D	0.153256	0.993142	0.81001	D	0.695	0.17993	N	3.16	0.07711	T	-0.74	0.74661	N	0.486	0.53796	-1.0071	0.27819	T	0.013	0.05225	T	10	0.003963679	0.00076	T	0.004527	0.11157	T	0.080	0.23350	.	.	0.361733483669	0.35779	0.36470114252489105	0.36384	0.699950383056	0.61075	0.481009572744	0.36195	T	0.360498	0.72673	T	-0.435227	0.01380	T	-0.489499	0.23443	T	0.0331035304662618	0.02488	T	0.69863	0.30863	T	0.23549053	0.46386	0.101026945	0.24173	0.22669424	0.45356	0.12189725	0.29408	-3.783	0.20551	T	0.2076111086295948	0.27752	0.131	0.28290	B	.;.;.;.;.;.	.;.;.;.;.;.	2.726476	0.35675	19.96	0.93796058749341815	0.23762	0.95688	0.65734	D	AEFDGBHIJ	0.493320	0.52958	N	-0.22004660499636	0.32311	1.820905	0.00472924034520748	0.39935	2.375389	0.999999901252766	0.74766	0.741895	0.98168	0	0.724815	0.89359	0	0.608884	0.39905	0	0.725737	0.93299	0	.	.	5.0	5.0	0.66209	4.134000	0.57751	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1493:0.8507:0.0:0.0	14.262	0.65641	727	0.54702	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1443.98	33	chr3	125313522	.	C	G	1443.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.19;DP=849;ExcessHet=0.0000;FS=0.591;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.70;ReadPosRankSum=-8.790e-01;SOR=0.761	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1360	20	0	1	0
chr3	126012652	126012652	T	G	exonic	SLC41A3	.	nonsynonymous SNV	SLC41A3:NM_001008486:exon8:c.A960C:p.K320N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.737	P	0.422	B	0.330	N	1.000	N	1.24	L	1.48	T	-1.076	T	0.046	T	0.088	0.054	4.297	-10.9	-1.977	-0.716	9.376	0.029	0.0066443235357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.17761	T	0.308	0.22084	T	0.692	0.42882	P	0.297	0.45143	B	0.330184	0.14126	N	0.723471	1	0.08975	N	1.01	0.25309	L	1.48	0.32238	T	-1.06	0.27669	N	0.188	0.31814	-1.0759	0.08164	T	0.046	0.19919	T	10	0.053121477	0.05452	T	0.006644	0.17529	T	0.029	0.06676	0.432	0.48171	0.0806252709748	0.07271	0.29207502029919336	0.29120	0.183954302833	0.20688	0.312983721495	0.12358	T	0.003955	0.03363	T	-0.306145	0.08092	T	-0.677533	0.07135	T	0.39535129070282	0.28767	T	0.723528	0.34774	T	0.036109626	0.04378	0.03403971	0.02402	0.036109626	0.04378	0.03403971	0.02401	-5.811	0.46087	T	.	.	0.113	0.24088	B	.;.;.;.;.	.;.;.;.;.	-0.430489	0.02102	0.197	0.66621034791047695	0.08113	0.03110	0.08046	N	AEFBI	0.072415	0.14451	N	-1.3657198096627	0.02965	0.1317434	-1.57392783627576	0.01816	0.08271548	0.999999996148582	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.43	-10.9	0.00151	-0.620000	0.05661	-5.136000	0.01835	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.030000	0.13115	0.0:0.3859:0.191:0.4231	9.376	0.37446	900	0.24599	.;.;.;SLC41 divalent cation transporters, integral membrane domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1489.98	35	chr3	126012652	.	T	G	1489.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=799;ExcessHet=0.0000;FS=2.453;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=-8.670e-01;SOR=0.461	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1269	20	0	1	0
chr3	126112875	126112875	C	T	exonic	ALDH1L1	.	nonsynonymous SNV	ALDH1L1:NM_001270365:exon17:c.G1785A:p.M595I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.911	P	0.682	P	0.000	D	1.000	D	-1.135	N	-0.88	T	-0.582	T	0.192	T	0.689	3.142	16.51	4.51	2.331	7.393	14.733	0.500	0.0312487883954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.28148	T	0.179	0.29540	T	0.627	0.40110	P	0.367	0.43430	B	0.000000	0.84330	D	0.043059	0.999999	0.81001	D	-0.335	0.03518	N	-0.88	0.74689	T	-2.82	0.59545	D	0.835	0.84609	-0.5817	0.65550	T	0.192	0.54433	T	10	0.698828	0.72314	D	0.031249	0.53376	D	0.500	0.78350	0.52	0.62217	0.611346784744	0.60822	0.6386957034620353	0.63803	0.245996394235	0.27129	0.676244139671	0.63731	T	0.436088	0.78259	T	0.122971	0.66669	D	-0.0611372	0.66253	T	0.94145256280899	0.61472	D	0.889111	0.62070	D	0.56666	0.70876	0.52424294	0.72513	0.56666	0.70878	0.52424294	0.72513	-8.98	0.67568	D	.	.	0.577	0.70820	P	.;.;.;.	.;.;.;.	4.635996	0.73751	26.0	0.98582346708884894	0.43258	0.97037	0.72325	D	AEFBI	0.971595	0.99362	D	0.144033391075846	0.48530	3.064137	0.285847550220986	0.54712	3.635423	0.999999973642832	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.51	4.51	0.54589	7.617000	0.82227	7.415000	0.58672	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	14.733	0.69016	912	0.21483	.;Aldehyde dehydrogenase domain;.;Aldehyde dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1414.98	33	chr3	126112875	.	C	T	1414.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.620e-01;DP=855;ExcessHet=0.0000;FS=0.669;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=-7.180e-01;SOR=0.794	GT:AD:DP:GQ:PL	0/1:62,61:123:99:1429,0,1530	20	0	1	0
chr3	126131520	126131520	A	G	exonic	ALDH1L1	.	nonsynonymous SNV	ALDH1L1:NM_001270365:exon11:c.T1184C:p.M395T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.999	D	0.000	D	1.000	D	2.21	M	-1.08	T	0.009	D	0.548	D	0.758	1.741	11.78	2.91	0.719	8.322	7.734	0.708	0.0698699719056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.996	0.68779	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999978	0.81001	D	2.3	0.65703	M	-1.08	0.77078	T	-4.94	0.81835	D	0.917	0.92667	0.009	0.82433	D	0.548	0.83432	D	10	0.90523684	0.89888	D	0.06987	0.70848	D	0.708	0.89559	0.739	0.87147	0.813516064682	0.81176	0.9191638624479672	0.91892	0.374827847212	0.38942	0.818411111832	0.84785	D	0.552764	0.84886	D	0.236415	0.77323	D	0.101818	0.77028	D	0.996112942695618	0.88696	D	0.941406	0.78138	D	0.90342796	0.91692	0.8951856	0.94634	0.90342796	0.91693	0.8951856	0.94635	-9.336	0.69959	D	.	.	0.896	0.83659	P	.;.;.;.	.;.;.;.	4.907222	0.80710	27.4	0.97249180836520488	0.33033	0.98571	0.84224	D	AEFDBI	0.955214	0.97288	D	0.287628670803759	0.55521	3.716133	0.16928705174706	0.48171	3.036845	0.999998460587128	0.74766	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.08	2.91	0.32903	8.991000	0.93075	10.805000	0.83801	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.8958:0.0:0.1042:0.0	7.734	0.27969	851	0.35303	.;Aldehyde dehydrogenase domain;.;Aldehyde dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	521.98	48	chr3	126131520	.	A	G	521.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.410e-01;DP=968;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.46;ReadPosRankSum=0.828;SOR=0.596	GT:AD:DP:GQ:PL	0/0:59,0:59:99:0,120,1800	20	0	1	0
chr3	126160912	126160912	C	T	exonic	ALDH1L1	.	nonsynonymous SNV	ALDH1L1:NM_001270364:exon2:c.G98A:p.G33D	.	.	426	1086	10	0	0	10	0.00458295	.	.	708521	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.03	D	1.0	D	1.0	D	0.000	D	1.000	D	2.15	M	-1.15	T	0.155	D	0.518	D	0.911	4.529	24.4	4.76	2.466	7.399	15.309	0.781	0.0416295819544	0.0043	0.00179712	0.0045	0.0011	0.0032	0	0.0032	0.0066	0.0033	0.0018	0.0044889	694	154602	rs143122118	0.0060	0.0060	0.0061	0.0058	0.0070	0.0059	0.0058	0.0069	0.0068	0.0009	0.0043	0.0004	0	0.0039	0.0016	0.0070	0.0053	0.0021	0.0039	0.0039	0.0043	0.0036	0.0061	0.0037	0.0036	0.0056	0.0054	0.0015	0.0011	0.0044	0	0.0004	0.0032	0	0.0061	0.0043	0.0017	0.022	0.91255	D	0.044	0.52389	D	0.763	0.43659	P	0.582	0.50238	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.725	0.79712	M	-1.15	0.77964	T	-5.67	0.92260	D	0.826	0.82559	0.155	0.85145	D	0.518	0.81995	D	10	0.015886605	0.00334	T	0.04163	0.60030	D	0.781	0.92705	.	.	0.923903873739	0.92313	0.737669835758105	0.73711	0.852060836716	0.68584	0.633820593357	0.57687	T	0.639879	0.89143	D	0.0776066	0.61758	D	0.342845	0.90033	D	0.0263078130503827	0.01447	T	0.941006	0.77964	D	0.8119775	0.84684	0.6674506	0.80496	0.8119775	0.84686	0.6674506	0.80497	-10.546	0.77907	D	.	.	0.275	0.52085	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.621352	0.73381	26.0	0.99825296991257173	0.90764	0.96693	0.70437	D	AEFDBI	0.977851	0.99742	D	0.638309508098115	0.75615	6.337207	0.621937125334831	0.76537	6.509157	0.999999972988082	0.74766	0.700653	0.57754	0	0.588015	0.36545	0	0.717052	0.78885	0	0.542086	0.14980	0	.	.	4.76	4.76	0.60189	7.771000	0.84203	7.556000	0.60375	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.811000	0.38219	0.0:1.0:0.0:0.0	15.309	0.73726	789	0.46346	Formyl transferase, N-terminal;.;Formyl transferase, N-terminal;.;Formyl transferase, N-terminal;Formyl transferase, N-terminal;Formyl transferase, N-terminal;Formyl transferase, N-terminal;Formyl transferase, N-terminal;Formyl transferase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1252.98	36	chr3	126160912	.	C	T	1252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.546e+00;DP=847;ExcessHet=0.0000;FS=0.667;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.19;ReadPosRankSum=-7.750e-01;SOR=0.620	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr3	126418713	126418713	G	A	exonic	CFAP100	.	nonsynonymous SNV	CFAP100:NM_182628:exon7:c.G589A:p.A197T,	.	.	425	1080	16	1	0	18	0.00826446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.998	D	0.85	P	0.286	N	1.000	N	2.235	M	2.28	T	-1.057	T	0.050	T	0.132	1.914	12.36	0.679	-0.202	1.273	4.227	0.049	.	0.0037	0.00279553	0.0075	0.0017	0.0105	0	0.0069	0.0100	0.0053	0.0048	0.0001153	3	26028	rs149511023	0.0055	0.0055	0.0055	0.0055	0.0077	0.0054	0.0054	0.0059	0.0059	0.0009	0.0065	0.0060	7.736e-05	0.0032	0.0077	0.0061	0.0062	0.0031	0.0044	0.0044	0.0045	0.0043	0.0076	0.0041	0.0040	0.0065	0.0060	0.0015	0	0.0076	0.0049	0	0.0024	0.0102	0.0061	0.0095	0.0027	0.017	0.51248	D	0.263	0.22828	T	0.998	0.73220	D	0.85	0.60657	P	0.286082	0.14855	N	0.682987	1	0.08975	N	.	.	.	2.28	0.17271	T	-2.92	0.61129	D	0.129	0.15328	-1.0573	0.12439	T	0.050	0.21456	T	10	0.00462386	0.00096	T	.	.	.	0.049	0.13647	.	.	0.136095386433	0.13204	0.19390678271095096	0.19308	0.264256805496	0.28972	0.277752429247	0.07181	T	0.034775	0.23458	T	-0.582601	0.00186	T	-0.605777	0.12330	T	0.0173980873959202	0.00478	T	0.651635	0.26249	T	0.15988533	0.35891	0.20279093	0.44325	0.15988533	0.35890	0.20279093	0.44324	-5.184	0.38778	T	.	.	0.122	0.25462	B	.;.	.;.	2.171061	0.27664	17.54	0.99656226662988801	0.77631	0.25539	0.22729	N	AEFDBI	0.054688	0.09965	N	-0.221663362836755	0.32246	1.816489	-0.43193014310853	0.24065	1.315811	0.0580696737494289	0.15114	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.91	0.679	0.17141	1.656000	0.36971	2.110000	0.30654	0.618000	0.50648	0.255000	0.24900	0.964000	0.29435	0.005000	0.06747	0.1903:0.0:0.4686:0.3412	4.227	0.10038	864	0.32732	Domain of unknown function DUF4200;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	920.98	34	chr3	126418713	.	G	A	920.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.344;DP=760;ExcessHet=0.0000;FS=1.935;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=0.050;SOR=0.458	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,106,1147	20	0	1	0
chr3	126419767	126419767	G	C	exonic	CFAP100	.	nonsynonymous SNV	CFAP100:NM_182628:exon9:c.G862C:p.V288L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.0	B	0.001	B	0.000	N	1.000	N	0	N	1.62	T	-1.052	T	0.035	T	0.055	0.286	5.549	-5.15	-1.125	-1.068	5.451	0.014	0.00366022015649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.14303	T	0.307	0.19972	T	0.0	0.02946	B	0.0	0.04355	B	0.000238	0.00528	N	31.350500	1	0.08975	N	.	.	.	1.61	0.28391	T	-0.63	0.18459	N	0.088	0.06587	-1.0519	0.13872	T	0.035	0.14857	T	10	0.029013813	0.01029	T	0.00366	0.08433	T	0.014	0.01968	0.121	0.02793	0.0401082797425	0.02173	0.09989092514442992	0.09920	0.0929131799592	0.10492	0.245092481375	0.03269	T	0.003651	0.03060	T	-0.387468	0.02793	T	-0.794348	0.02047	T	0.191430002450943	0.19928	T	0.294271	0.05429	T	0.045217313	0.07362	0.040476706	0.04382	0.045217313	0.07362	0.040476706	0.04382	-3.221	0.12826	T	.	.	0.105	0.19919	B	.;.	.;.	-0.722638	0.01269	0.066	0.47286307294522911	0.03854	0.05282	0.11125	N	AEFDBCI	0.065663	0.12820	N	-1.77543066754252	0.00608	0.02620768	-1.81671492611919	0.00707	0.03149414	0.999930748601189	0.46732	0.615755	0.39536	0	0.573888	0.26702	0	0.618376	0.41669	0	0.562822	0.20929	0	.	.	4.44	-5.15	0.02648	-0.872000	0.04327	-1.048000	0.06492	-0.175000	0.10903	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.473:0.0:0.3038:0.2232	5.451	0.15863	864	0.32732	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	215.98	38	chr3	126419767	.	G	C	215.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.109e+00;DP=866;ExcessHet=0.0000;FS=127.969;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.39;ReadPosRankSum=3.08;SOR=7.427	GT:AD:DP:GQ:PL	0/1:115,40:155:99:230,0,2511	20	0	1	0
chr3	126420145	126420145	T	C	exonic	CFAP100	.	nonsynonymous SNV	CFAP100:NM_182628:exon11:c.T998C:p.M333T,	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.001	B	0.002	B	0.001	N	1.000	N	1.1	L	1.56	T	-1.063	T	0.027	T	0.109	-0.456	1.888	-4.46	-0.870	-0.646	6.260	0.009	.	0.0073	0.00638978	0.0028	0.0216	0.0021	0	0	0.0013	0.0057	6.089e-05	0.0026002	402	154602	rs113527043	0.0011	0.0011	0.0012	0.0010	0.0225	0.0010	0.0010	0.0212	0.0206	0.0225	0.0023	0.0140	0.0002	0	0.0025	0.0001	0.0034	9.276e-05	0.0065	0.0065	0.0070	0.0060	0.0200	0.0062	0.0061	0.0189	0.0184	0.0200	0	0.0059	0.0127	0	0	0	0.0002	0.0047	0.0002	0.726	0.03857	T	0.475	0.15059	T	0.0	0.07471	B	0.001	0.06944	B	0.000736	0.00674	N	3.044770	1	0.08975	N	.	.	.	1.56	0.29602	T	0.05	0.06369	N	0.028	0.00618	-1.0632	0.10974	T	0.027	0.11574	T	10	0.0034114122	0.00060	T	.	.	.	0.009	0.00846	.	.	0.0297737177859	0.01360	0.25060881054810563	0.24974	0.110085860378	0.12427	0.31633991003	0.12867	T	0.002054	0.01461	T	-0.687516	0.00043	T	-0.743426	0.03748	T	0.000715476860916004	0.00006	T	0.186781	0.01946	T	0.028601056	0.02222	0.0709503	0.15136	0.028601056	0.02221	0.0709503	0.15136	-1.858	0.02688	T	.	.	0.089	0.15206	B	.;.	.;.	-0.712080	0.01293	0.069	0.2643571102838152	0.01266	0.01995	0.06019	N	AEFDBCIJ	0.022316	0.01100	N	-1.28097495090901	0.03904	0.1752791	-1.39987337017152	0.03253	0.1514113	0.999774273452103	0.42865	0.487112	0.14033	0	0.573888	0.26702	0	0.607795	0.38427	0	0.562822	0.20929	0	.	.	3.37	-4.46	0.03288	-0.834000	0.04498	-2.102000	0.04210	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5396:0.179:0.2814	6.260	0.20106	864	0.32732	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	844.98	49	chr3	126420145	.	T	C	844.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.556;DP=935;ExcessHet=0.0000;FS=3.414;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=-1.270e-01;SOR=0.496	GT:AD:DP:GQ:PL	0/1:29,33:62:99:859,0,705	20	0	1	0
chr3	126420157	126420157	G	A	exonic	CFAP100	.	nonsynonymous SNV	CFAP100:NM_182628:exon11:c.G1010A:p.R337Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.043	B	0.014	B	0.000	N	1.000	N	0.69	N	1.47	T	-1.077	T	0.010	T	0.086	0.137	4.734	-4.4	-0.953	-0.172	0.902	0.016	.	0.0050	0.00698882	0.0017	0.0190	0.0006	0	0	0.0002	0	0.0002	0.0016688	258	154602	rs59283185	0.0006	0.0006	0.0007	0.0005	0.0192	0.0006	0.0006	0.0180	0.0175	0.0192	0.0016	0	5.039e-05	0	0.0009	8.903e-05	0.0009	0.0002	0.0055	0.0055	0.0054	0.0056	0.0184	0.0052	0.0051	0.0174	0.0169	0.0184	0	0.0029	0	0	0	0	0.0002	0.0047	0.0002	0.393	0.10730	T	0.446	0.21478	T	0.026	0.21573	B	0.006	0.16862	B	0.000331	0.00568	N	4.873430	1	0.08975	N	.	.	.	1.47	0.31987	T	-0.36	0.13035	N	0.034	0.00942	-1.0766	0.08023	T	0.010	0.03492	T	10	0.0031832755	0.00054	T	.	.	.	0.016	0.02506	.	.	0.0297737177859	0.01360	0.1933221059007423	0.19250	0.110544938361	0.12480	0.18778707087	0.00188	T	0.00346	0.02869	T	-0.693245	0.00040	T	-0.753639	0.03346	T	0.00295621778038212	0.00031	T	0.484552	0.14745	T	0.01828033	0.00349	0.023728842	0.00386	0.01828033	0.00349	0.023728842	0.00386	-3.883	0.22303	T	.	.	0.075	0.05447	B	.;.	.;.	-0.289409	0.02665	0.341	0.79853804633878156	0.12931	0.00778	0.03198	N	AEFDBCIJ	0.015381	0.00290	N	-1.52862334434275	0.01664	0.07278397	-1.62303548969613	0.01521	0.06888175	0.999781692627588	0.43007	0.487112	0.14033	0	0.573888	0.26702	0	0.607795	0.38427	0	0.562822	0.20929	0	.	.	3.06	-4.4	0.03349	-0.197000	0.09519	-0.169000	0.11245	-1.725000	0.00723	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.254:0.3394:0.2398:0.1668	0.902	0.01196	864	0.32732	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1055.98	49	chr3	126420157	.	G	A	1055.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.27;DP=944;ExcessHet=0.0000;FS=2.712;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=2.06;SOR=0.979	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	20	0	1	0
chr3	126436313	126436313	G	A	exonic	CFAP100	.	nonsynonymous SNV	CFAP100:NM_182628:exon17:c.G1745A:p.R582H,	.	.	426	1095	1	0	0	1	0.000456413	.	.	2437737	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.988	D	0.000	D	1.000	D	2.56	M	-0.68	T	0.162	D	0.525	D	0.832	2.833	15.44	3.94	2.193	6.423	13.852	0.561	0.245155261979	0.0002	.	5.058e-05	0	0	0	0	3.055e-05	0	0.0002	3.88e-05	6	154602	rs147792825	2.942e-05	2.942e-05	1.498e-05	4.401e-05	0.0003	2.217e-05	1.97e-05	0.0002	0.0002	2.988e-05	6.711e-05	3.827e-05	0	0	0.0002	4.497e-06	4.97e-05	0.0003	3.287e-05	3.284e-05	2.57e-05	4.037e-05	0.0002	1.261e-05	7.98e-06	1.171e-05	6.25e-06	0	0	0	0	0.0002	0	0	4.411e-05	0	0.0002	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.974	0.77976	D	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	.	.	.	-0.68	0.72994	T	-4.29	0.76414	D	0.839	0.83473	0.162	0.85266	D	0.525	0.82326	D	10	0.8658005	0.85823	D	0.245155	0.88874	D	0.561	0.82003	.	.	0.764403687969	0.76225	0.2606307772760194	0.25977	0.551235762849	0.51968	0.439786612988	0.30548	T	0.250195	0.62026	T	0.0412139	0.57204	T	0.131943	0.79019	D	0.948201656341553	0.62845	D	0.871513	0.57764	D	0.39845356	0.60625	0.2505835	0.50652	0.39845356	0.60626	0.2505835	0.50651	-8.334	0.63605	D	.	.	0.192	0.41094	B	.;.	.;.	4.720012	0.75909	26.4	0.998837771444815	0.95970	0.96230	0.68134	D	AEFBI	0.798071	0.72472	D	0.53953227357748	0.69446	5.358185	0.399331601595287	0.61523	4.353659	0.999962634805242	0.48965	0.522611	0.21652	0	0.54472	0.11627	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.94	3.94	0.44807	6.472000	0.73482	9.720000	0.81362	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.011000	0.09372	0.0:0.0:1.0:0.0	13.852	0.63001	854	0.34840	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1501.98	34	chr3	126436313	.	G	A	1501.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.970e-01;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.65;ReadPosRankSum=0.579;SOR=0.659	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr3	126496060	126496060	C	T	exonic	UROC1	.	nonsynonymous SNV	UROC1:NM_144639:exon15:c.G1487A:p.R496Q	.	.	0	1520	2	0	0	2	0.000657462	.	.	708524	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.15	T	0.126	B	0.028	B	0.000	N	1.000	D	1.225	L	0.95	T	-1.107	T	0.026	T	0.082	2.531	14.42	-1.46	-0.148	0.122	9.14	0.031	.	0.0108	0.0103834	0.0032	0.0354	0.0012	0.0001	0	4.819e-05	0	0.0011	0.002859	442	154602	rs75603988	0.0010	0.0010	0.0011	0.0009	0.0327	0.0009	0.0009	0.0310	0.0304	0.0327	0.0012	0	5.038e-05	0	0.0007	4.497e-05	0.0020	0.0011	0.0088	0.0089	0.0093	0.0084	0.0309	0.0085	0.0083	0.0295	0.0289	0.0309	0	0.0027	0	0	0	0	0.0001	0.0061	0.0004	0.119	0.28026	T	0.143	0.33780	T	0.003	0.11197	B	0.015	0.17295	B	0.000175	0.48594	N	0.178179	0.999881	0.50402	D	1.29	0.32370	L	0.95	0.43279	T	-0.83	0.34596	N	0.367	0.44857	-1.1067	0.03369	T	0.026	0.11087	T	10	0.0048895776	0.00104	T	.	.	.	0.031	0.07369	.	.	0.354610295913	0.35065	0.5314609886010813	0.53071	0.0834057925702	0.09409	0.217876136303	0.01191	T	0.034955	0.23529	T	-0.645563	0.00077	T	-0.675708	0.07248	T	0.0300500352879831	0.01997	T	0.89651	0.63872	D	0.0485886	0.08493	0.067132354	0.13846	0.043108262	0.06659	0.07351164	0.15982	-3.734	0.19821	T	0.10924386755119432	0.09098	0.076	0.08081	B	.;.	.;.	1.245685	0.16417	12.53	0.98130094394852463	0.38514	0.17583	0.19900	N	AEFBI	0.163524	0.28981	N	-0.879350919736541	0.11335	0.5464555	-0.851250136463165	0.13258	0.6867532	0.997407823595757	0.35583	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.39	-1.46	0.08338	0.205000	0.17154	-1.578000	0.05132	-1.013000	0.01759	0.007000	0.17678	0.000000	0.08366	0.213000	0.22268	0.0:0.4868:0.0:0.5132	9.14	0.36058	845	0.36510	Urocanase, C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1076.98	34	chr3	126496060	.	C	T	1076.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.62;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=-1.420e-01;SOR=0.705	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr3	126536303	126536303	C	T	exonic	CHST13	.	nonsynonymous SNV	CHST13:NM_152889:exon2:c.C130T:p.L44F,	.	.	434	1083	5	0	0	5	0.00230309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.001	B	0.002	B	0.586	N	0.999	D	0.69	N	-0.36	T	-0.959	T	0.140	T	0.087	-1.948	0.007	-0.307	-0.082	0.100	5.596	0.040	.	.	0.00638978	0.0035	9.615e-05	0.0005	0	0	0	0.0022	0.0249	0.0030013	464	154602	rs563070610	0.0015	0.0016	0.0008	0.0023	0.0245	0.0015	0.0015	0.0237	0.0233	2.987e-05	0	0	2.519e-05	0	0.0005	1.709e-05	0.0020	0.0245	0.0009	0.0009	0.0004	0.0015	0.0284	0.0008	0.0007	0.0245	0.0230	4.815e-05	0	0	0	0	0	0	0	0.0005	0.0284	0.738	0.03719	T	0.728	0.13595	T	0.001	0.07471	B	0.002	0.06944	B	0.586141	0.05565	N	1.302210	0.999885	0.19853	N	0.485	0.13215	N	-0.36	0.68754	T	-0.09	0.08340	N	0.064	0.06990	-0.9594	0.39293	T	0.140	0.45979	T	10	0.0020996034	0.00030	T	.	.	.	0.040	0.10527	.	.	0.354183961838	0.35022	0.3179856210019072	0.31711	0.740810662923	0.63252	0.392376542091	0.24004	T	0.005643	0.09998	T	-0.561158	0.00250	T	-0.560588	0.16321	T	0.00497875790134609	0.00054	T	0.439356	0.12115	T	0.042140625	0.06338	0.04485058	0.05903	0.042140625	0.06338	0.04485058	0.05903	-5.63	0.43066	T	.	.	0.087	0.14888	B	.;.	.;.	0.770130	0.11402	8.012	0.73274450521435752	0.10269	0.16647	0.19485	N	AEFBCI	0.101438	0.20374	N	-1.21528239744049	0.04777	0.2163607	-1.20707113094023	0.05795	0.2771557	0.987369287594694	0.31248	0.614807	0.35715	0	0.59043	0.45803	0	0.616094	0.41390	0	0.542086	0.14980	0	.	.	3.18	-0.307	0.12143	0.227000	0.17575	-0.483000	0.08907	-0.257000	0.07002	0.468000	0.26706	0.020000	0.20764	0.032000	0.13371	0.0:0.468:0.0:0.532	5.596	0.16611	840	0.37365	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	781.98	33	chr3	126536303	.	C	T	781.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.930e-01;DP=774;ExcessHet=0.0000;FS=4.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.71;ReadPosRankSum=0.512;SOR=1.029	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1211	20	0	1	0
chr3	126536323	126536323	C	G	exonic	CHST13	.	nonsynonymous SNV	CHST13:NM_152889:exon2:c.C150G:p.S50R,	.	.	432	1072	17	0	1	18	0.00786673	.	.	3297393	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.37	T	0.999	D	0.965	D	0.077	N	0.902	N	2.175	M	-0.4	T	-0.610	T	0.346	T	0.291	1.099	9.486	-3.62	-0.872	-0.315	9.821	0.212	0.0654933683097	0.0008	0.000798722	0.0010	0.0006	0.0004	0	0	0.0014	0.0033	0.0011	0.001022	158	154602	rs147017058	0.0014	0.0014	0.0013	0.0015	0.0153	0.0013	0.0013	0.0127	0.0117	0.0009	0.0007	0.0029	0	0	0.0153	0.0015	0.0016	0.0011	0.0011	0.0011	0.0011	0.0011	0.0015	0.0010	0.0009	0.0013	0.0012	0.0004	0	0.0009	0.0032	0	0	0.0408	0.0015	0.0024	0.0010	0.003	0.68238	D	0.02	0.60337	D	0.999	0.77913	D	0.965	0.71173	D	0.077178	0.21120	N	0.450948	0.901504	0.27691	N	2.455	0.71248	M	-0.4	0.69287	T	-1.61	0.38734	N	0.525	0.55453	-0.6095	0.64424	T	0.346	0.71060	T	10	0.014990956	0.00315	T	0.065493	0.69595	D	0.212	0.50341	0.424	0.46857	0.683872430874	0.68117	0.9055490879127142	0.90527	1.8037777233	0.91694	0.504722952843	0.39487	T	0.007551	0.17550	T	-0.371903	0.03499	T	-0.347522	0.39488	T	0.0500039741012342	0.05501	T	0.79532	0.52582	T	0.13184346	0.30719	0.11423102	0.27574	0.13184346	0.30719	0.11423102	0.27573	-3.17	0.12117	T	.	.	0.634	0.74756	P	.;.	.;.	1.723463	0.21940	15.41	0.99120887092430421	0.52985	0.36346	0.25512	N	AEFBCI	0.165964	0.29251	N	-0.484961235902419	0.22573	1.206271	-0.743055200314894	0.15893	0.8381397	0.998146440410154	0.36487	0.614807	0.35715	0	0.59043	0.45803	0	0.616094	0.41390	0	0.542086	0.14980	0	.	.	3.03	-3.62	0.04251	-0.265000	0.08671	0.014000	0.13486	-0.341000	0.05685	0.933000	0.32380	0.962000	0.29361	0.224000	0.22571	0.0:0.6675:0.0:0.3325	9.821	0.40049	840	0.37365	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1091.98	33	chr3	126536323	.	C	G	1091.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.822;DP=796;ExcessHet=0.0000;FS=0.831;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=-1.120e-01;SOR=0.838	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1211	20	0	1	0
chr3	126642109	126642109	T	A	exonic	TXNRD3	.	unknown	UNKNOWN,	.	.	432	1079	11	0	0	11	0.00507146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.565	H	0.62	T	0.008	D	0.402	T	0.703	4.340	22.8	5.57	2.141	7.495	13.731	0.663	.	.	0.000399361	0.0023	0	0	0	0	0.0002	0.0052	0.0043	0.0002717	42	154602	rs183140827	0.0003	0.0003	0.0002	0.0005	0.0045	0.0003	0.0003	0.0041	0.0039	0.0002	2.806e-05	0	0	0	0.0026	7.415e-05	0.0003	0.0045	0.0002	0.0002	0.0002	0.0002	0.0035	0.0002	0.0001	0.0022	0.0018	0	0	6.533e-05	0	0	0	0.0034	0.0002	0.0009	0.0035	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	0.000000	0.84330	D	0.089281	.	.	.	4.66	0.99393	H	.	.	.	.	.	.	0.782	0.77883	0.008	0.82421	D	0.402	0.75317	T	10	0.036937177	0.02019	T	.	.	.	0.663	0.87430	.	.	0.498194598333	0.49456	.	.	.	.	0.673499047756	0.63337	T	0.241434	0.60997	T	-0.07488	0.40543	T	0.119793	0.78222	D	0.392527883578824	0.28660	T	0.988001	0.95955	D	0.7216076	0.79251	0.3501183	0.60626	0.7216076	0.79252	0.3501183	0.60626	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.871275	0.79804	27.2	0.99594991445059777	0.73866	0.97168	0.73090	D	AEFBI	0.877424	0.80204	D	0.873724760962892	0.90415	10.39335	0.781568856875248	0.88483	9.599296	0.999999827671583	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.57	5.57	0.84021	7.832000	0.84935	7.693000	0.65888	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	13.731	0.62269	869	0.31655	.;.;.;FAD/NAD(P)-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1673.98	33	chr3	126642109	.	T	A	1673.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.579e+00;DP=830;ExcessHet=0.0000;FS=3.106;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=-2.650e-01;SOR=0.473	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1104	20	0	1	0
chr3	126988613	126988613	G	T	exonic	PLXNA1	.	nonsynonymous SNV	PLXNA1:NM_032242:exon1:c.G20T:p.S7I,	.	.	405	1105	12	0	0	12	0.00540054	.	.	697806	not_provided|PLXNA1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	0.624	U	1.000	D	0	N	2.94	T	-1.001	T	0.018	T	0.342	-0.574	1.415	1.28	0.741	2.066	4.339	0.074	0.0306953465408	0.0003	0.000599042	0.0012	0.0004	0	0	0	0.0007	0	0.0084	0.0004916	76	154602	rs375859367	0.0004	0.0004	0.0003	0.0005	0.0058	0.0003	0.0003	0.0043	0.0037	6.232e-05	5.311e-05	0.0037	5.196e-05	0	0.0058	0.0001	0.0007	0.0030	0.0003	0.0003	0.0002	0.0004	0.0035	0.0002	0.0002	0.0022	0.0018	2.405e-05	0	0.0001	0.0032	0	0	0	0.0002	0.0014	0.0035	0.026	0.46910	D	0.05	0.48080	T	.	.	.	.	.	.	0.624217	0.05774	U	1.391890	0.999962	0.52935	D	0	0.06538	N	2.94	0.09728	T	-0.93	0.24898	N	0.3	0.33904	-1.0008	0.29688	T	0.018	0.07423	T	8	0.008778155	0.00199	T	0.030695	0.52952	D	0.074	0.21613	.	.	0.229543500084	0.22568	0.5299194176901552	0.52915	0.837879280182	0.67888	0.543546915054	0.44947	T	0.137901	0.47110	T	-0.524806	0.00412	T	-0.531239	0.19162	T	0.00978345987330515	0.00129	T	0.426357	0.11459	T	0.07829908	0.17823	0.05266806	0.08721	0.07829908	0.17823	0.05266806	0.08721	-5.534	0.42185	T	.	.	0.108	0.20625	B	.	.	1.996285	0.25363	16.74	0.86886833396257601	0.16840	0.62281	0.31734	D	AEFDBCI	0.103141	0.20673	N	-0.654402605111544	0.17332	0.8909657	-0.680534052512014	0.17448	0.9277975	0.999709802540483	0.41986	0.695654	0.57023	0	0.601575	0.49859	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	3.31	1.28	0.20656	2.180000	0.42167	2.551000	0.33264	-0.826000	0.02916	0.889000	0.31176	0.662000	0.26021	0.000000	0.00833	0.2097:0.0:0.6106:0.1797	4.339	0.10539	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	841.98	37	chr3	126988613	.	G	T	841.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.900e+00;DP=849;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.52;ReadPosRankSum=1.21;SOR=0.658	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1130	20	0	1	0
chr3	126988711	126988711	C	G	exonic	PLXNA1	.	nonsynonymous SNV	PLXNA1:NM_032242:exon1:c.C118G:p.P40A,	.	.	420	1098	4	0	0	4	0.00181818	.	.	3207030	PLXNA1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.25	T	0.0	B	0.0	B	0.600	N	1.000	N	1.905	M	3.04	T	-0.961	T	0.025	T	0.077	-1.702	0.011	-4.4	-0.770	0.796	3.927	0.055	0.00428102546057	0.0002	0.00139776	0.0008	0.0001	8.843e-05	0	0	0	0	0.0082	0.0007697	119	154602	rs372314843	0.0004	0.0004	0.0002	0.0006	0.0073	0.0004	0.0004	0.0068	0.0066	0	0	0	0	0	0.0007	3.673e-06	0.0004	0.0073	0.0002	0.0002	0.0001	0.0004	0.0070	0.0002	0.0002	0.0052	0.0045	7.217e-05	0	0	0	0	0	0	0	0	0.0070	0.303	0.14352	T	0.403	0.14865	T	0.0	0.02946	B	0.0	0.01387	B	0.599590	0.05638	N	1.299200	1	0.08975	N	1.905	0.50856	L	2.99	0.09262	T	-0.61	0.18042	N	0.071	0.04426	-0.9607	0.39050	T	0.025	0.10733	T	10	0.0051888525	0.00113	T	0.004281	0.10373	T	0.055	0.15663	.	.	0.138757226776	0.13463	0.38034052077590524	0.37949	0.409882801041	0.41793	0.37333458662	0.21309	T	0.16068	0.50462	T	-0.679731	0.00048	T	-0.746274	0.03633	T	0.0264546568078447	0.01468	T	0.214479	0.02649	T	0.017260943	0.00258	0.019887466	0.00108	0.017260943	0.00258	0.019887466	0.00108	-2.929	0.09436	T	.	.	0.050	0.00136	B	.	.	-0.756008	0.01197	0.059	0.42526470373872266	0.03141	0.07777	0.13775	N	AEFBCI	0.041360	0.06278	N	-1.10121637534329	0.06622	0.3053551	-1.2325817681478	0.05394	0.256904	0.999954829086511	0.48110	0.718356	0.82227	0	0.708844	0.79440	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	3.56	-4.4	0.03349	-0.074000	0.11410	-1.499000	0.05301	-0.305000	0.06155	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.2224:0.4526:0.2342:0.0908	3.927	0.08767	946	0.12043	Sema domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1842.98	37	chr3	126988711	.	C	G	1842.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.325e+00;DP=925;ExcessHet=0.0000;FS=0.706;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.63;ReadPosRankSum=0.085;SOR=0.789	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1130	20	0	1	0
chr3	127014301	127014301	G	A	exonic	PLXNA1	.	nonsynonymous SNV	PLXNA1:NM_032242:exon11:c.G2530A:p.A844T,	.	.	409	1111	2	0	0	2	0.000899281	.	.	2350286	not_specified|PLXNA1-related_disorder	MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.5	T	0.0	B	0.003	B	0.079	N	0.995	N	0.515	N	2.37	T	-0.977	T	0.023	T	0.052	0.289	5.567	1.82	0.339	0.939	9.503	0.029	0.00602179604429	0.0002	.	0.0004	0	0	0	0	0.0002	0	0.0015	0.0002005	31	154602	rs199523740	0.0002	0.0002	0.0001	0.0002	0.0014	0.0002	0.0002	0.0012	0.0011	0	0	0	2.554e-05	0	0.0010	0.0001	8.359e-05	0.0014	0.0001	0.0001	0.0001	0.0001	0.0006	8.659e-05	7.252e-05	0.0002	8.992e-05	4.811e-05	0.0011	0	0	0.0002	0	0	0.0002	0	0.0006	0.246	0.17353	T	0.589	0.08245	T	0.0	0.02946	B	0.003	0.08700	B	0.078947	0.21013	N	0.424699	0.994545	0.23495	N	0.405	0.12330	N	2.37	0.15964	T	-0.08	0.08187	N	0.045	0.01740	-0.9774	0.35593	T	0.023	0.09923	T	10	0.013095558	0.00279	T	0.006022	0.15728	T	0.029	0.06676	.	.	0.110392049598	0.10638	0.25958679515335603	0.25872	0.410057775964	0.41802	0.567321658134	0.48299	T	0.054586	0.29766	T	-0.66416	0.00059	T	-0.756875	0.03226	T	0.0206267298002609	0.00762	T	0.165083	0.01523	T	0.025216216	0.01434	0.050659414	0.07996	0.025216216	0.01433	0.050659414	0.07995	-5.061	0.37495	T	.	.	0.071	0.03887	B	.	.	1.280722	0.16803	12.77	0.92774871779612	0.22289	0.56488	0.30130	D	AEFDBCI	0.156874	0.28229	N	-1.09709227206031	0.06696	0.3089999	-0.992626555470928	0.09950	0.4981074	0.992728753554622	0.32945	0.651	0.46895	0	0.708844	0.79440	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.64	1.82	0.24209	0.646000	0.24486	3.310000	0.37456	-1.146000	0.01433	0.888000	0.31154	0.991000	0.31484	0.048000	0.15020	0.158:0.6834:0.1586:0.0	9.503	0.38194	941	0.13089	PSI domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1107.98	36	chr3	127014301	.	G	A	1107.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.275;DP=838;ExcessHet=0.0000;FS=2.655;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=-1.111e+00;SOR=0.970	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr3	127604898	127604898	A	G	exonic	MCM2	.	nonsynonymous SNV	MCM2:NM_004526:exon4:c.A415G:p.S139G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.345	B	0.113	B	0.011	N	1.000	D	1.5	L	1.93	T	-1.101	T	0.062	T	0.37	0.631	7.392	5.29	1.997	5.950	15.242	0.056	0.0476635761141	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1159044582	5.492e-06	5.472e-06	5.462e-06	5.522e-06	1.166e-05	2.36e-06	1.71e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.308e-06	0	1.166e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.107	0.37730	T	0.345	0.33546	B	0.113	0.31689	B	0.011459	0.29527	N	0.401287	1	0.81001	D	2.36	0.67893	M	1.93	0.22881	T	-1.87	0.43717	N	0.401	0.44187	-1.1010	0.03973	T	0.062	0.25958	T	10	0.25787702	0.43209	T	0.047664	0.63025	D	0.056	0.15993	0.335	0.32329	0.55116632592	0.54773	0.16815726179835444	0.16735	0.453964407394	0.45080	0.806470870972	0.82950	D	0.101078	0.40749	T	-0.102472	0.36014	T	-0.384971	0.35141	T	0.275000214576721	0.23960	T	0.921908	0.71628	D	0.18227014	0.39437	0.13536389	0.32412	0.18227014	0.39437	0.13536389	0.32411	-5.89	0.45350	T	.	.	0.089	0.12228	B	.	.	3.001232	0.40103	21.1	0.2227580076543037	0.00888	0.90440	0.51618	D	AEFBHCI	0.729585	0.67724	D	-0.00105135954242114	0.41808	2.50736	0.129171674285912	0.46047	2.857274	0.999999999455586	0.74766	0.706548	0.73137	0	0.685571	0.66316	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.29	5.29	0.74430	5.938000	0.69885	11.075000	0.85649	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.205000	0.22041	1.0:0.0:0.0:0.0	15.242	0.73168	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	864.98	33	chr3	127604898	.	A	G	864.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.970e-01;DP=835;ExcessHet=0.0000;FS=1.788;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.72;ReadPosRankSum=-2.590e-01;SOR=0.497	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1157	20	0	1	0
chr3	128055734	128055734	T	C	exonic	SEC61A1	.	nonsynonymous SNV	SEC61A1:NM_013336:exon4:c.T203C:p.I68T,	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.813	P	0.991	D	0.000	D	1.000	D	3.135	M	.	.	0.283	D	0.586	D	0.853	4.605	25.1	5.96	2.285	8.040	16.434	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	1753.27	33	chr3	128055734	.	T	C	1753.27	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-2.562e+00;DP=1413;ExcessHet=14.4320;FS=89.774;InbreedingCoeff=-0.4973;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=0.471;SOR=10.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:51,18:69:99:.:.:168,0,929	7	0	14	0
chr3	128408210	128408210	T	G	exonic	EEFSEC	.	nonsynonymous SNV	EEFSEC:NM_021937:exon7:c.T1742G:p.F581C,	.	.	392	1129	1	0	0	1	0.000442674	.	.	720133	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.993	D	0.000	D	1.000	D	1.205	L	0.16	T	-0.759	T	0.122	T	0.255	2.863	15.54	4.95	1.859	4.875	13.191	0.313	.	0.0082	0.00958466	0.0021	0.0220	0.0013	0	0	0.0002	0.0011	0	0.0021086	326	154602	rs114096655	0.0006	0.0006	0.0007	0.0005	0.0212	0.0006	0.0006	0.0199	0.0194	0.0212	0.0012	0	0	0	0.0005	2.161e-05	0.0014	1.164e-05	0.0063	0.0063	0.0066	0.0059	0.0215	0.0059	0.0058	0.0203	0.0198	0.0215	0	0.0027	0	0	0	0	4.412e-05	0.0066	0	0.044	0.41096	D	0.12	0.35970	T	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.999309	0.81001	D	1.995	0.54099	M	0.16	0.60610	T	-5.88	0.88699	D	0.708	0.71143	-0.7591	0.57455	T	0.122	0.42441	T	10	0.009999007	0.00224	T	.	.	.	0.313	0.63482	.	.	0.785898684871	0.78391	0.7203146692391693	0.71974	0.204166068536	0.22834	0.706863880157	0.68139	T	0.422207	0.77335	T	-0.391903	0.02615	T	-0.318133	0.42779	T	0.0491669517679572	0.05352	T	.	.	.	0.7487497	0.80795	0.40914306	0.65212	0.7487497	0.80797	0.40914306	0.65212	-11.742	0.83572	D	.	.	0.920	0.84223	P	.	.	4.595664	0.72742	25.9	0.9899498630102922	0.50024	0.85892	0.45078	D	AEFDGBHCI	0.798769	0.72522	D	0.440442476643773	0.63664	4.60445	0.41230626347206	0.62329	4.446708	0.999999999982276	0.74766	0.706298	0.61202	0	0.659464	0.62310	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.95	4.95	0.64894	5.255000	0.65279	7.822000	0.69787	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.826000	0.38927	0.0:0.0:0.0:1.0	13.191	0.59132	735	0.53711	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1366.98	36	chr3	128408210	.	T	G	1366.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=843;ExcessHet=0.0000;FS=0.618;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.24;ReadPosRankSum=-1.232e+00;SOR=0.608	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1098	20	0	1	0
chr3	128462648	128462648	C	T	exonic	DNAJB8	.	nonsynonymous SNV	DNAJB8:NM_153330:exon3:c.G598A:p.V200M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.816	P	0.103	B	0.002	N	0.917	D	1.81	L	0.79	T	-1.038	T	0.080	T	0.115	0.433	6.351	1.92	0.078	1.281	5.888	0.085	0.0595181041511	0.0002	0.000199681	0.0002	0	8.64e-05	0.0009	0	0.0001	0	0.0002	0.0001423	22	154602	rs199584005	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0001	0.0011	0.0010	0	2.236e-05	0	0.0014	3.748e-05	0	0.0002	0.0001	8.115e-05	0.0002	0.0002	0.0001	0.0002	0.0014	0.0001	8.721e-05	0.0006	0.0005	0.0001	0	0	0	0.0014	9.439e-05	0	0.0001	0.0005	0	0.315	0.13789	T	0.253	0.23501	T	0.816	0.45573	P	0.103	0.30945	B	0.001893	0.37740	N	0.223015	0.917	0.36573	D	2.2	0.62015	M	0.79	0.49068	T	-1.44	0.35399	N	0.075	0.04913	-1.0380	0.17924	T	0.080	0.31675	T	10	0.017086148	0.00363	T	0.059518	0.67689	D	0.085	0.24743	.	.	0.306377322295	0.30243	0.49624636028116376	0.49545	0.127916415262	0.14423	0.528169155121	0.42776	T	0.078103	0.35813	T	-0.549406	0.00294	T	-0.57519	0.14976	T	0.0375871167618072	0.03258	T	0.788521	0.42806	T	0.051437657	0.09446	0.063033074	0.12424	0.051437657	0.09446	0.063033074	0.12423	-5.581	0.42619	T	.	.	0.090	0.14015	B	.;.	.;.	2.474018	0.31895	18.88	0.85213977534746854	0.15755	0.64023	0.32274	D	AEFBI	0.149292	0.27336	N	-0.220065701311177	0.32311	1.820852	-0.252404577424046	0.29688	1.665349	0.0118222559520045	0.12241	0.569682	0.32691	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	4.75	1.92	0.24912	1.326000	0.33341	-0.389000	0.09488	0.599000	0.40250	0.899000	0.31403	0.000000	0.08366	0.740000	0.35438	0.1235:0.5861:0.0:0.2904	5.888	0.18137	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2684.98	41	chr3	128462648	.	C	T	2684.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.466;DP=1096;ExcessHet=0.0000;FS=3.001;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.09;ReadPosRankSum=-9.450e-01;SOR=0.910	GT:AD:DP:GQ:PL	0/1:105,117:222:99:2699,0,2256	20	0	1	0
chr3	128915213	128915213	C	T	exonic	CFAP92	.	stopgain	CFAP92:NM_001348520:exon14:c.G2313A:p.W771X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	4.575	24.8	5.31	2.649	5.327	14.821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.226e-07	6.84e-07	1.427e-06	0	9.269e-07	0	0	.	.	0	0	0	0	0	0	9.269e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000262	0.46590	D	0.155080	1	0.81001	A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.528224	0.95112	D	0.520981	0.95039	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.413241	0.97535	37	0.99430643213232006	0.64227	0.98437	0.82768	D	AEFDBI	0.066606	0.13052	N	0.77148202557775	0.84294	8.248098	0.620154437761453	0.76405	6.484936	0.999960766005551	0.48965	0.562547	0.31514	0	0.379588	0.06130	0	0.608884	0.39905	0	0.508809	0.08732	0	.	.	5.31	5.31	0.75063	5.645000	0.67582	2.871000	0.35267	0.549000	0.26987	0.999000	0.42656	0.994000	0.32194	0.915000	0.45038	0.0:1.0:0.0:0.0	14.821	0.69699	600	0.68026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1191.98	33	chr3	128915213	.	C	T	1191.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.29;DP=795;ExcessHet=0.0000;FS=1.542;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.55;ReadPosRankSum=0.323;SOR=0.864	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1336	20	0	1	0
chr3	128965581	128965581	T	C	exonic	CFAP92	.	nonsynonymous SNV	CFAP92:NM_001348520:exon8:c.A410G:p.N137S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.48038	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.404	0.59783	A	.	.	3.125863	0.42218	21.5	0.92978479245851642	0.22560	0.77555	0.38145	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.985691377833118	0.30932	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.058706	0.01089	0	0.956275	0.63725	5.48	5.48	0.80675	3.841000	0.55557	7.652000	0.63756	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.858000	0.40661	0.0:0.0:0.0:1.0	11.963	0.52307	608	0.67185	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2016.98	33	chr3	128965581	.	T	C	2016.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.324;DP=861;ExcessHet=0.0000;FS=2.776;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.69;ReadPosRankSum=-1.908e+00;SOR=0.922	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1419	20	0	1	0
chr3	128965652	128965652	G	T	exonic	CFAP92	.	nonsynonymous SNV	CFAP92:NM_001348520:exon8:c.C339A:p.N113K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	.	.	.	.	.	.	.	.	0.0003458	9	26028	rs147658946	0.0017	0.0007	0.0018	0.0016	0.0020	0.0016	0.0015	0.0015	0.0014	0.0001	0	0	0.0020	0.0142	0.0008	0.0004	0.0005	0	0.0014	0.0014	0.0008	0.0020	0.0015	0.0012	0.0012	0.0008	0.0006	2.409e-05	0	6.557e-05	0	0.0015	0.0155	0	0.0005	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011046499	0.00243	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.49731	B	.	.	1.132705	0.15196	11.66	0.83600026249711112	0.14815	0.02733	0.07404	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.0342426771913618	0.14145	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.058706	0.01089	0	0.314325	0.35263	5.48	2.3	0.27735	0.363000	0.20037	0.977000	0.23099	0.618000	0.50648	0.627000	0.27974	0.187000	0.23467	0.996000	0.76049	0.1016:0.1538:0.5081:0.2366	2.631	0.04644	608	0.67185	.	.	.	.	.	rs147658946	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1616.98	33	chr3	128965652	.	G	T	1616.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=847;ExcessHet=0.0000;FS=2.286;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=0.262;SOR=0.507	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1419	20	0	1	0
chr3	128976995	128976995	C	T	exonic	CFAP92	.	nonsynonymous SNV	CFAP92:NM_001348520:exon5:c.G7A:p.D3N	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.889	P	0.012	N	1.000	N	0.695	N	.	.	-1.056	T	0.108	T	0.024	3.378	17.39	3.63	2.327	2.899	11.102	0.186	0.00586150795439	8.3e-05	0.000199681	0.0005	0	0	0	0	0.0002	0	0.0033	0.0004334	67	154602	rs368155872	0.0003	0.0003	0.0002	0.0004	0.0037	0.0003	0.0003	0.0033	0.0032	5.976e-05	0	0	0.0002	0	0.0005	7.917e-05	0.0003	0.0037	0.0002	0.0002	0.0002	0.0002	0.0025	0.0001	0.0001	0.0014	0.0011	4.813e-05	0	0	0	0	0	0	0.0002	0	0.0025	0.009	0.58626	D	0.033	0.53426	D	1.0	0.90584	D	0.889	0.63100	P	0.012237	0.29245	N	0.159885	1	0.08975	N	0.895	0.22405	L	.	.	.	-2.07	0.47344	N	0.165	0.17416	-1.0556	0.12882	T	0.108	0.39246	T	9	0.0072848797	0.00166	T	0.005862	0.15251	T	0.186	0.46104	.	.	0.0611884634855	0.05136	0.02086658751259671	0.02039	0.606121699755	0.55470	0.336169153452	0.15864	T	0.019784	0.15694	T	-0.612042	0.00123	T	-0.653089	0.08739	T	0.0800929932141362	0.09999	T	0.626737	0.24270	T	0.11398242	0.26914	0.08103384	0.18381	0.11398242	0.26913	0.08103384	0.18380	-3.675	0.19112	T	.	.	0.104	0.22609	B	.;.;.;.	.;.;.;.	3.137981	0.42432	21.5	0.99655472667420431	0.77568	0.18441	0.20261	N	AEFBI	0.114375	0.22530	N	-0.0665516235493234	0.38867	2.283013	-0.226826353503049	0.30578	1.722954	2.73897709760963E-4	0.06300	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	3.63	3.63	0.40741	2.910000	0.48464	3.831000	0.39996	0.549000	0.26987	0.196000	0.24261	0.944000	0.28851	0.003000	0.05239	0.0:1.0:0.0:0.0	11.102	0.47400	603	0.67726	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1340.98	33	chr3	128976995	.	C	T	1340.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.420e-01;DP=827;ExcessHet=0.0000;FS=0.661;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.73;ReadPosRankSum=1.55;SOR=0.624	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1245	20	0	1	0
chr3	129003845	129003845	C	G	exonic	EFCC1	.	nonsynonymous SNV	EFCC1:NM_001377500:exon2:c.C748G:p.P250A	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.004	B	0.004	B	0.466	U	1.000	N	1.155	L	0.88	T	-1.016	T	0.064	T	0.129	-2.572	0.003	0.961	-0.092	-0.002	3.96	0.011	.	.	0.00199681	0.0069	0	0.0161	0	.	0	0	0.0095	0.0004269	66	154602	rs543402046	0.0004	0.0004	0.0002	0.0007	0.0077	0.0004	0.0004	0.0072	0.0070	0	0	0	0	0	0.0002	1.922e-06	0.0004	0.0077	0.0003	0.0003	0.0002	0.0004	0.0085	0.0002	0.0002	0.0064	0.0057	0	0	0	0	0	0	0	1.472e-05	0.0005	0.0085	.	.	.	0.581	0.08476	T	0.004	0.12183	B	0.004	0.10090	B	0.466481	0.12329	U	0.690969	1	0.18198	N	1.955	0.52871	M	.	.	.	.	.	.	0.162	0.17002	-1.0160	0.25013	T	0.064	0.26632	T	10	0.0050778985	0.00110	T	.	.	.	.	.	0.235	0.16457	0.0138822411134	0.00435	0.09305492855270586	0.09237	.	.	0.65498316288	0.60693	T	0.003054	0.02453	T	-0.553681	0.00277	T	-0.563536	0.16046	T	0.014651585841956	0.00303	T	0.448055	0.12582	T	0.034890655	0.04004	0.06153909	0.11899	0.034890655	0.04004	0.06153909	0.11898	-3.255	0.13164	T	.	.	0.068	0.02702	B	.	.	-0.232321	0.02931	0.428	0.41840351940602288	0.03045	0.17708	0.19953	N	AEFDBHCI	0.043191	0.06796	N	-1.10108055061937	0.06624	0.3054783	-1.16797911403493	0.06451	0.3105707	0.999999983981336	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.01	0.961	0.18758	0.246000	0.17935	0.192000	0.15754	0.328000	0.19510	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.2544:0.606:0.0:0.1396	3.96	0.08901	599	0.68140	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	207.98	33	chr3	129003845	.	C	G	207.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.046e+00;DP=635;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=-1.140e-01;SOR=0.892	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,997	20	0	1	0
chr3	129062173	129062173	G	A	exonic	GP9	.	nonsynonymous SNV	GP9:NM_000174:exon3:c.G434A:p.R145H,	Bernard-Soulier syndrome, type C, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.0	B	0.0	B	0.182	U	1.000	N	0.69	N	-1.23	T	-0.872	T	0.185	T	0.061	-0.215	2.959	-7.84	-2.980	-0.952	0.829	0.135	0.0601575437165	.	0.000798722	0.0004	0	0	0	0	0.0001	0	0.0013	0.0001682	26	154602	rs571825199	0.0001	0.0001	7.523e-05	0.0002	0.0011	0.0001	9.596e-05	0.0010	0.0009	6.096e-05	5.002e-05	0	0	0	0.0010	4.555e-05	0.0002	0.0011	0.0002	0.0002	0.0002	0.0002	0.0027	0.0001	0.0001	0.0016	0.0013	7.212e-05	0	6.53e-05	0	0	0	0	0.0002	0	0.0027	0.68	0.04430	T	0.553	0.09329	T	0.0	0.02946	B	0.0	0.01387	B	0.181966	0.03188	U	1.868380	1	0.08975	N	-0.35	0.03145	N	-1.23	0.78860	T	1.13	0.01182	N	0.045	0.01740	-0.8721	0.50371	T	0.185	0.53421	T	10	0.006854087	0.00156	T	0.060158	0.67906	D	0.135	0.36572	0.515	0.61459	0.174091166621	0.17034	0.3539957468986322	0.35313	0.204946080272	0.22915	0.339257150888	0.16327	T	0.044913	0.26961	T	-0.536084	0.00353	T	-0.583357	0.14246	T	0.0059775862925401	0.00066	T	0.424758	0.11367	T	0.014825456	0.00109	0.020771788	0.00154	0.017810853	0.00305	0.026591022	0.00757	-4.601	0.32184	T	.	.	0.069	0.03060	B	.	.	-0.382547	0.02279	0.237	0.70137606179154632	0.09198	0.00108	0.00689	N	AEFDBIJ	0.020538	0.00821	N	-1.78244537030426	0.00589	0.02540184	-1.90667830624999	0.00475	0.02103068	0.999999854186245	0.74766	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	3.92	-7.84	0.01061	-0.135000	0.10399	-1.679000	0.04930	-0.831000	0.02872	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1807:0.2545:0.3458:0.219	0.829	0.01054	654	0.62520	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1096.98	33	chr3	129062173	.	G	A	1096.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.600e-01;DP=771;ExcessHet=0.0000;FS=2.125;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.37;ReadPosRankSum=0.277;SOR=1.101	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1297	20	0	1	0
chr3	129408852	129408852	T	C	exonic	EFCAB12	.	nonsynonymous SNV	EFCAB12:NM_207307:exon6:c.A1042G:p.I348V,	.	.	430	1091	1	0	0	1	0.000458085	.	.	3441669	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.58	T	0.017	B	0.011	B	0.774	N	1.000	N	0.46	N	4.02	T	-0.893	T	0.006	T	0.079	0.687	7.672	-2.04	-0.377	-0.789	5.766	0.016	0.00537636822171	.	.	3.344e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs770510976	8.478e-06	8.209e-06	1.118e-05	5.717e-06	0.0002	4.52e-06	3.57e-06	4.14e-06	1.55e-06	0	0	0	0	0	0.0002	5.513e-06	5.108e-05	2.493e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.371	0.11514	T	0.744	0.04912	T	0.017	0.17573	B	0.011	0.15521	B	0.774071	0.09524	N	0.874550	1	0.08975	N	1.04	0.26193	L	4.02	0.03178	T	-0.33	0.12472	N	0.093	0.07262	-0.8927	0.48696	T	0.006	0.02206	T	10	0.045945823	0.03725	T	0.005376	0.13771	T	0.016	0.02506	0.181	0.08877	0.0716867268079	0.06686	0.061248493552112475	0.06064	0.0628155014901	0.06995	0.361789137125	0.19647	T	0.002804	0.02196	T	-0.450075	0.01128	T	-0.761734	0.03051	T	0.0161887045211994	0.00394	T	0.533147	0.17760	T	0.03001001	0.02591	0.028975792	0.01186	0.03001001	0.02590	0.028975792	0.01186	-3.126	0.11597	T	.	.	0.108	0.20313	B	.;.	.;.	-0.294394	0.02641	0.334	0.464825021729045	0.03726	0.02214	0.06449	N	AEFI	0.078015	0.15730	N	-1.21506327561668	0.04780	0.2165044	-1.25019364870402	0.05128	0.2436221	0.0241611880309818	0.13560	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.82	-2.04	0.06937	-0.663000	0.05398	-0.076000	0.12237	0.665000	0.62972	0.001000	0.13787	0.002000	0.18203	0.025000	0.12405	0.0:0.1724:0.4306:0.397	5.766	0.17496	439	0.80177	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	809.08	25	chr3	129408852	.	T	C	809.08	.	AC=2;AF=0.048;AN=42;DP=637;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.36;SOR=3.528	GT:AD:DP:GQ:PL	0/0:38,0:38:90:0,90,1350	20	1	0	0
chr3	129478141	129478141	C	T	exonic	IFT122	.	nonsynonymous SNV	IFT122:NM_052990:exon9:c.C940T:p.R314W	Cranioectodermal dysplasia 1, Autosomal recessive	YES	0	1502	19	1	0	21	0.00694215	.	.	272572	Connective_tissue_disorder|Cranioectodermal_dysplasia_1|not_provided|not_specified	MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330,Orphanet:1515|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.988	D	0.004	N	1.000	D	2.925	M	-1.45	T	0.490	D	0.641	D	0.731	4.068	20.9	4.66	1.330	4.394	15.756	0.188	0.289353280779	0.0044	0.00139776	0.0048	0.0004	0.0005	0	0.0039	0.0069	0.0066	0.0045	0.0046118	713	154602	rs61744639	0.0048	0.0048	0.0045	0.0050	0.0047	0.0047	0.0046	0.0046	0.0045	0.0004	0.0009	0.0319	0	0.0039	0.0035	0.0047	0.0049	0.0039	0.0045	0.0045	0.0047	0.0042	0.0070	0.0042	0.0041	0.0065	0.0063	0.0004	0.0011	0.0007	0.0343	0	0.0030	0.0034	0.0070	0.0038	0.0027	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.984	0.76113	D	0.003868	0.34390	N	0.279446	0.999825	0.50225	D	2.63	0.76995	M	-1.45	0.80899	T	-5.98	0.91353	D	0.522	0.61341	0.490	0.90412	D	0.641	0.87450	D	10	0.009804696	0.00220	T	0.289353	0.90509	D	0.672	0.87868	.	.	0.952316176623	0.95181	0.5983418352486869	0.59765	0.780735406293	0.65281	0.546192884445	0.45320	T	0.715232	0.91908	D	-0.10792	0.35113	T	0.0815987	0.75685	D	0.0235890455863366	0.01094	T	0.989001	0.96320	D	0.49027917	0.66520	0.41508797	0.65633	0.43143672	0.62846	0.3999957	0.64548	-13.616	0.91742	D	0.6785857272398503	0.75465	0.189	0.47305	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.060131	0.84340	28.3	0.99913342734031829	0.98238	0.95229	0.63916	D	AEFDBI	0.799403	0.72567	D	0.67669343027995	0.78107	6.805063	0.607564439379775	0.75490	6.31943	0.999987175815797	0.51787	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.54	4.66	0.57857	4.700000	0.61489	2.750000	0.34528	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.1377:0.8623:0.0:0.0	15.756	0.77793	496	0.76301	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1150.98	34	chr3	129478141	.	C	T	1150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.740e-01;DP=810;ExcessHet=0.0000;FS=0.745;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=-4.590e-01;SOR=0.811	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1205	20	0	1	0
chr3	129528885	129528885	G	C	exonic	RHO	.	nonsynonymous SNV	RHO:NM_000539:exon1:c.G152C:p.G51A,	Night blindness, congenital stationary, autosomal dominant 1;Retinitis pigmentosa 4, autosomal dominant or recessive, Autosomal recessive, Autosomal dominant;Retinitis punctata albescens, Autosomal recessive, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	288724	not_provided|Congenital_stationary_night_blindness_autosomal_dominant_1|Retinitis_pigmentosa	MedGen:C3661900|MONDO:MONDO:0012498,MedGen:C1864869,OMIM:610445,Orphanet:215|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.997	D	0.000	D	1.000	D	2.285	M	0.77	T	-0.581	T	0.193	T	0.325	4.059	20.9	5.52	2.609	4.386	19.038	0.430	.	0.0025	0.00459265	0.0011	0.0118	0.0003	0	0	8.99e-05	0.0011	0	0.0011125	172	154602	rs149079952	0.0003	0.0003	0.0004	0.0003	0.0103	0.0003	0.0003	0.0094	0.0091	0.0103	0.0005	0	0	0	0.0019	5.396e-05	0.0010	0.0001	0.0028	0.0028	0.0029	0.0028	0.0095	0.0026	0.0025	0.0087	0.0084	0.0095	0	0.0015	0	0	0	0	7.349e-05	0.0028	0.0002	0.044	0.41096	D	0.127	0.35082	T	1.0	0.90584	D	0.997	0.86255	D	0.000006	0.62929	D	0.106321	1	0.81001	D	2.07	0.56829	M	0.77	0.49642	T	-4.13	0.75139	D	0.69	0.69562	-0.5806	0.65593	T	0.193	0.54637	T	10	0.016246676	0.00342	T	.	.	.	0.430	0.73662	.	.	0.892792565662	0.89173	0.9371479934239455	0.93694	0.896665118415	0.70483	0.61914741993	0.55609	T	0.784792	0.94351	D	-0.390064	0.02688	T	-0.325114	0.42012	T	0.0311814557097529	0.02175	T	0.959504	0.84742	D	0.58510035	0.71886	0.7095899	0.82871	0.6781824	0.76872	0.7453305	0.84948	-5.973	0.46053	T	0.2255041211503992	0.30468	0.491	0.64183	A	.	.	3.875245	0.56290	23.7	0.99797263957725646	0.88283	0.93457	0.58268	D	AEFDBI	0.604454	0.59554	D	0.751740995433971	0.83018	7.908503	0.727711915576057	0.84482	8.304422	0.999998064372123	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.52	5.52	0.82153	4.489000	0.60035	9.958000	0.82775	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.038	0.92968	511	0.75131	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	2077.98	34	chr3	129528885	.	G	C	2077.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=942;ExcessHet=0.0000;FS=1.269;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=0.027;SOR=0.564	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	20	0	1	0
chr3	129533669	129533669	C	T	exonic	RHO	.	nonsynonymous SNV	RHO:NM_000539:exon5:c.C998T:p.A333V,	Night blindness, congenital stationary, autosomal dominant 1;Retinitis pigmentosa 4, autosomal dominant or recessive, Autosomal recessive, Autosomal dominant;Retinitis punctata albescens, Autosomal recessive, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	1584851	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.0	B	0.0	B	0.001	D	0.974	D	0.6	N	1.2	T	-1.098	T	0.064	T	0.425	2.575	14.57	4.3	1.167	0.967	15.450	0.116	0.14850341924	.	.	0.0001	0	0.0002	0	0	3.003e-05	0.0011	0.0007	0.0001035	16	154602	rs760792843	3.968e-05	3.967e-05	1.225e-05	6.738e-05	0.0006	3.113e-05	2.847e-05	0.0005	0.0005	0	0	0	0	0	0	2.698e-06	0	0.0006	2.627e-05	2.625e-05	1.285e-05	4.03e-05	0.0006	8.14e-06	5.14e-06	0.0002	9.011e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.151	0.24564	T	0.315	0.19421	T	0.0	0.02946	B	0.0	0.01387	B	0.000554	0.43413	D	0.227900	0.973808	0.39053	D	0.035	0.08059	N	1.2	0.37405	T	-0.61	0.18042	N	0.03	0.00717	-1.0978	0.04367	T	0.064	0.26632	T	10	0.031240612	0.01257	T	0.148503	0.83041	D	0.116	0.32463	0.267	0.21418	0.62478398535	0.62173	0.6335245147686495	0.63286	0.23281924886	0.25818	0.33363083005	0.15482	T	0.372513	0.73668	T	-0.374564	0.03369	T	-0.396317	0.33812	T	0.0698098997465096	0.08625	T	0.882812	0.60417	D	0.17720231	0.38673	0.240196	0.49388	0.17720231	0.38673	0.240196	0.49387	-8.23	0.62627	D	.	.	0.102	0.17869	B	.	.	1.852331	0.23531	16.05	0.99575593341443169	0.72682	0.39308	0.26184	N	AEFBI	0.209424	0.33541	N	-0.478999468250493	0.22771	1.218174	-0.353044172191121	0.26414	1.458874	0.999995961814473	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.18	4.3	0.50540	1.369000	0.33832	1.947000	0.29863	0.599000	0.40250	0.019000	0.19563	1.000000	0.68203	0.701000	0.34172	0.0:0.8521:0.1478:0.0	15.450	0.74993	511	0.75131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2197.98	34	chr3	129533669	.	C	T	2197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.283e+00;DP=925;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.57;ReadPosRankSum=-2.644e+00;SOR=0.717	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1330	20	0	1	0
chr3	129547417	129547417	G	A	exonic	H1-8	.	nonsynonymous SNV	H1-8:NM_153833:exon2:c.G115A:p.G39R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.271	B	0.073	B	0.054	N	1.000	N	0.695	N	0.93	T	-1.074	T	0.061	T	0.141	1.177	9.786	-0.86	-0.180	-0.027	0.324	0.052	0.011049000587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.521	0.07235	T	0.526	0.10245	T	0.271	0.31796	B	0.073	0.28123	B	0.053864	0.02055	N	2.808710	1	0.08975	N	0	0.06538	N	0.93	0.44065	T	0.56	0.02680	N	0.101	0.08366	-1.0737	0.08619	T	0.061	0.25492	T	10	0.04049161	0.02622	T	0.011049	0.28270	T	0.052	0.14661	0.189	0.09907	0.134241683229	0.13084	0.3688756663700294	0.36801	0.0664251731897	0.07407	0.460333019495	0.33356	T	0.027348	0.20046	T	-0.29333	0.09304	T	-0.659125	0.08325	T	0.116801382502882	0.14114	T	0.310069	0.06017	T	0.03421154	0.03795	0.051912967	0.08450	0.03421154	0.03794	0.051912967	0.08450	-3.137	0.11726	T	.	.	0.144	0.31808	B	.	.	0.007997	0.04336	1.105	0.8768098372509604	0.17404	0.00710	0.03005	N	AEFDI	0.032018	0.03537	N	-1.10869240173283	0.06487	0.2987872	-1.22504100536658	0.05510	0.2627332	0.964561030649586	0.28769	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	2.33	-0.86	0.10140	0.221000	0.17463	-0.948000	0.06824	0.098000	0.17617	0.003000	0.16062	0.000000	0.08366	0.008000	0.08271	0.2763:0.203:0.3154:0.2054	0.324	0.00286	514	0.74853	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2	58.84	39	chr3	129547417	.	G	A	58.84	.	AC=2;AF=0.200;AN=10;BaseQRankSum=-8.070e-01;DP=656;ExcessHet=0.1128;FS=2.520;InbreedingCoeff=-0.3113;MLEAC=4;MLEAF=0.400;MQ=60.00;MQRankSum=0.00;QD=1.47;ReadPosRankSum=2.33;SOR=1.244	GT:AD:DP:GQ:PL	./.:34,0:34:0:0,0,601	3	0	2	16
chr3	129560431	129560431	G	T	exonic	PLXND1	.	nonsynonymous SNV	PLXND1:NM_015103:exon31:c.C5032A:p.L1678M,	.	.	409	1105	8	0	0	8	0.00360685	.	.	720149	PLXND1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.977	D	0.000	D	1.000	D	1.735	L	2.7	T	-1.127	T	0.077	T	0.364	2.721	15.06	3.94	0.975	3.529	12.263	0.082	.	.	0.00199681	0.0015	0	0	0	0	8.035e-05	0	0.0103	0.0012031	186	154602	rs200252007	0.0006	0.0006	0.0004	0.0009	0.0094	0.0006	0.0006	0.0089	0.0087	2.995e-05	0	0	2.521e-05	0	0.0021	2.797e-05	0.0007	0.0094	0.0002	0.0003	0.0001	0.0004	0.0070	0.0002	0.0002	0.0052	0.0045	0	0	6.532e-05	0	0	0	0	2.94e-05	0	0.0070	0.173	0.22573	T	0.171	0.30339	T	0.998	0.73220	D	0.977	0.73820	D	0.000402	0.44736	D	0.090405	0.99973	0.48635	D	1.445	0.36358	L	2.7	0.12162	T	-0.23	0.10656	N	0.53	0.55886	-1.1273	0.01916	T	0.077	0.30676	T	10	0.015358686	0.00322	T	.	.	.	0.109	0.30843	0.404	0.43573	0.403154071476	0.39927	0.23408618568868378	0.23323	1.59034253558	0.88517	0.57325220108	0.49137	T	0.135491	0.46734	T	-0.482775	0.00713	T	-0.458287	0.26785	T	0.0586171622835817	0.06948	T	0.830517	0.49623	T	0.10721294	0.25350	0.081668586	0.18579	0.10721294	0.25350	0.081668586	0.18579	-5.925	0.45647	T	.	.	0.104	0.18910	B	.	.	3.790264	0.54550	23.5	0.99334023082782341	0.59895	0.97888	0.77885	D	AEFDBI	0.739431	0.68399	D	0.240604195838506	0.53176	3.487708	0.186416695521506	0.49101	3.117522	0.999999694555698	0.74766	0.722319	0.85440	0	0.547309	0.14657	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	4.85	3.94	0.44807	3.460000	0.52793	3.992000	0.40997	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.264000	0.23619	0.0862:0.0:0.9138:0.0	12.263	0.53977	517	0.74620	Plexin, cytoplasmic RasGAP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	456.98	32	chr3	129560431	.	G	T	456.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=714;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=-1.143e+00;SOR=0.653	GT:AD:DP:GQ:PL	0/0:33,0:33:96:0,96,1440	20	0	1	0
chr3	129571192	129571192	C	A	exonic	PLXND1	.	nonsynonymous SNV	PLXND1:NM_015103:exon18:c.G3448T:p.V1150L,	.	.	404	1109	8	1	0	10	0.00448833	.	.	733778	PLXND1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.011	B	0.01	B	0.231	N	1.000	N	0	N	1.4	T	-1.033	T	0.038	T	0.035	-1.196	0.074	-0.484	-0.094	-0.022	4.603	0.013	0.01238062834	0.0005	0.00119808	0.0015	9.643e-05	0.0005	0	0.0002	0.0008	0.0055	0.0067	0.0014036	217	154602	rs143564778	0.0011	0.0011	0.0008	0.0014	0.0082	0.0011	0.0011	0.0077	0.0075	0.0002	0.0009	0.0049	0	0.0001	0.0033	0.0006	0.0015	0.0082	0.0009	0.0009	0.0007	0.0010	0.0068	0.0008	0.0007	0.0050	0.0044	7.213e-05	0	0.0006	0.0060	0	0	0.0034	0.0010	0.0005	0.0068	0.727	0.03846	T	0.415	0.14326	T	0.011	0.15914	B	0.01	0.14941	B	0.231031	0.03518	N	1.572440	1	0.08975	N	-0.725	0.01781	N	1.4	0.33630	T	-0.44	0.14588	N	0.062	0.03392	-1.0330	0.19490	T	0.038	0.16333	T	10	0.0039209127	0.00075	T	0.012381	0.30901	T	0.013	0.01715	0.365	0.37199	0.267718591433	0.26370	0.4351068644668284	0.43427	0.284960885881	0.30907	0.431636363268	0.29432	T	0.046897	0.27563	T	-0.684087	0.00045	T	-0.751415	0.03431	T	8.65619440446608e-05	0.00001	T	0.472453	0.14032	T	0.03807716	0.05002	0.031896103	0.01845	0.03807716	0.05002	0.031896103	0.01845	-2.932	0.09467	T	.	.	0.081	0.08417	B	.	.	0.696240	0.10651	7.349	0.34656427979356147	0.02132	0.10482	0.15977	N	AEFDBCI	0.106629	0.21269	N	-1.52946612558314	0.01659	0.07255437	-1.49431515977113	0.02390	0.1098558	0.99855896386275	0.37186	0.67177	0.52595	0	0.588066	0.40923	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.91	-0.484	0.11469	0.182000	0.16710	0.837000	0.22005	-0.291000	0.06292	0.000000	0.06391	0.010000	0.20010	0.080000	0.17246	0.2188:0.2011:0.4946:0.0855	4.603	0.11756	538	0.73119	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1372.98	38	chr3	129571192	.	C	A	1372.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.670e-01;DP=1174;ExcessHet=0.0000;FS=1.487;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=0.453;SOR=0.515	GT:AD:DP:GQ:PL	0/0:115,0:115:99:0,120,1800	20	0	1	0
chr3	129574473	129574473	C	T	exonic	PLXND1	.	nonsynonymous SNV	PLXND1:NM_015103:exon12:c.G2548A:p.A850T,	.	.	408	1103	11	0	0	11	0.00496166	.	.	747981	PLXND1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.27	T	0.728	P	0.196	B	0.008	N	1.000	D	1.87	L	1.39	T	-1.012	T	0.090	T	0.405	2.902	15.67	4.32	2.102	3.313	17.170	0.059	0.0325043448813	0.0002	0.000998403	0.0016	0	0.0006	0	0	0.0006	0.0024	0.0085	0.0012613	195	154602	rs199793511	0.0008	0.0008	0.0005	0.0011	0.0088	0.0007	0.0007	0.0083	0.0081	2.987e-05	0.0004	0.0039	2.519e-05	1.907e-05	0.0038	0.0002	0.0010	0.0088	0.0004	0.0004	0.0004	0.0005	0.0066	0.0003	0.0003	0.0048	0.0042	2.404e-05	0	0.0003	0.0023	0	0	0.0034	0.0002	0.0014	0.0066	0.104	0.29959	T	0.125	0.35330	T	0.728	0.42542	P	0.196	0.36635	B	0.007602	0.31297	N	0.324362	0.997777	0.44180	D	0.895	0.22405	L	1.39	0.33842	T	-1.16	0.29727	N	0.525	0.55453	-1.0118	0.26353	T	0.090	0.34518	T	10	0.007889956	0.00179	T	0.032504	0.54314	D	0.059	0.16972	.	.	0.259504319725	0.25562	0.4460281072872651	0.44520	0.628086612755	0.56883	0.539982438087	0.44442	T	0.122388	0.44602	T	-0.438278	0.01324	T	-0.396924	0.33741	T	0.0259121548729908	0.01394	T	0.920008	0.71084	D	0.099070564	0.23375	0.10527839	0.25303	0.099070564	0.23375	0.10527839	0.25303	-6.499	0.50278	T	.	.	0.107	0.20117	B	.	.	3.794154	0.54627	23.5	0.99824862212431575	0.90764	0.86648	0.45973	D	AEFBI	0.260899	0.37896	N	0.114203387211714	0.47125	2.94263	0.140330951946635	0.46632	2.906072	0.999888048646305	0.44867	0.67177	0.52595	0	0.588066	0.40923	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.32	4.32	0.50899	3.377000	0.52156	5.898000	0.50850	0.580000	0.29708	0.976000	0.34826	1.000000	0.68203	0.929000	0.46594	0.0:1.0:0.0:0.0	17.170	0.86707	543	0.72751	PSI domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1129.98	35	chr3	129574473	.	C	T	1129.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.136e+00;DP=877;ExcessHet=0.0000;FS=0.809;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.99;ReadPosRankSum=0.901;SOR=0.813	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1288	20	0	1	0
chr3	129586616	129586616	C	A	exonic	PLXND1	.	nonsynonymous SNV	PLXND1:NM_015103:exon3:c.G1592T:p.G531V,	.	.	419	1102	1	0	0	1	0.000453515	.	.	733787	not_provided|PLXND1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.22	T	0.536	P	0.118	B	0.011	N	0.999	D	0.895	L	3.49	T	-0.858	T	0.009	T	0.558	1.552	11.14	3.76	0.943	1.960	8.516	0.107	.	0.0006	0.00339457	0.0048	0.0003	0	0.0242	0.0510	0.0047	0.0041	0.0007	0.0019405	300	154602	rs117182497	0.0013	0.0013	0.0013	0.0013	0.0141	0.0013	0.0012	0.0131	0.0128	3.027e-05	0.0005	0.0103	0.0141	0.0099	0.0003	0.0004	0.0020	0.0005	0.0018	0.0018	0.0013	0.0022	0.0160	0.0016	0.0015	0.0133	0.0122	9.63e-05	0	0.0005	0.0072	0.0160	0.0085	0	0.0007	0.0014	0.0012	0.131	0.26629	T	0.163	0.58613	T	0.536	0.37827	P	0.118	0.32088	B	0.010664	0.29831	N	0.344703	0.999377	0.46831	D	0.345	0.11182	N	3.49	0.05071	T	-1.6	0.48523	N	0.435	0.47395	-0.8575	0.51441	T	0.009	0.03140	T	10	0.0061834455	0.00139	T	.	.	.	0.107	0.30369	.	.	0.282416095408	0.27849	0.6408337116466017	0.64018	0.38299773621	0.39630	0.375565797091	0.21627	T	0.213901	0.57534	T	-0.472195	0.00824	T	-0.436115	0.29244	T	0.0107850423097429	0.00153	T	0.911709	0.68653	D	0.142255	0.32745	0.11675826	0.28185	0.142255	0.32744	0.11675826	0.28184	-6.901	0.53306	T	.	.	0.256	0.49117	B	.;.	.;.	3.057364	0.41045	21.3	0.98019374290208461	0.37620	0.51770	0.28973	D	AEFGBHCI	0.194609	0.32168	N	-0.489005837721391	0.22440	1.198262	-0.498418451991287	0.22197	1.204477	0.999999999946181	0.74766	0.67177	0.52595	0	0.588066	0.40923	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.64	3.76	0.42368	2.120000	0.41591	3.928000	0.40516	0.580000	0.29708	0.423000	0.26353	0.237000	0.23824	0.712000	0.34516	0.0:0.6331:0.28:0.0868	8.516	0.32407	548	0.72362	Sema domain;Sema domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2031.98	34	chr3	129586616	.	C	A	2031.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=852;ExcessHet=0.0000;FS=0.595;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=1.37;SOR=0.598	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1429	20	0	1	0
chr3	129606618	129606618	C	T	exonic	PLXND1	.	nonsynonymous SNV	PLXND1:NM_015103:exon1:c.G22A:p.G8S,	.	.	.	.	.	.	.	.	.	.	.	3366192	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.46	T	0.597	P	0.022	B	0.094	U	1.000	N	0	N	1.25	T	-1.022	T	0.042	T	0.232	0.559	7.025	1.39	0.804	0.507	11.179	0.065	0.114412736595	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1303859961	2.3e-05	2.463e-05	2.077e-05	2.552e-05	0.0010	1.532e-05	1.279e-05	0.0007	0.0006	0.0010	0	0	0	0	0.0004	0	5.266e-05	0	0.0003	0.0002	0.0002	0.0003	0.0009	0.0002	0.0002	0.0006	0.0006	0.0009	0	6.722e-05	0	0	0	0	0	0.0005	0	0.614	0.05404	T	0.57	0.08808	T	0.597	0.39250	P	0.022	0.19653	B	0.093744	0.02480	U	4.030550	0.99205	0.23944	N	0	0.06538	N	1.25	0.36512	T	-0.35	0.12847	N	0.232	0.26111	-1.0225	0.22899	T	0.042	0.18035	T	10	0.13003933	0.24745	T	0.114413	0.79326	D	0.065	0.18881	0.208	0.12497	0.457489361034	0.45375	0.43600970725727733	0.43517	1.13396224435	0.78722	0.851289987564	0.89809	D	0.058496	0.30857	T	-0.52257	0.00425	T	-0.553491	0.16992	T	0.091150313615799	0.11354	T	0.49515	0.15352	T	0.08332486	0.19237	0.110687606	0.26692	0.08332486	0.19237	0.110687606	0.26691	-3.768	0.20327	T	.	.	0.232	0.46447	B	.	.	3.241715	0.44252	21.9	0.91238119098252835	0.20496	0.67976	0.33629	D	AEFDBHCIJ	0.489624	0.52745	N	-0.428300058713345	0.24482	1.322186	-0.366257287214484	0.26011	1.434007	0.999999996494331	0.74766	0.56387	0.32371	0	0.491552	0.07993	0	0.503968	0.08637	0	0.249971	0.05119	0	.	.	1.39	1.39	0.21325	0.772000	0.26309	4.503000	0.43617	0.249000	0.18320	0.885000	0.31090	1.000000	0.68203	0.957000	0.51019	0.0:1.0:0.0:0.0	11.179	0.47843	554	0.71839	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	393.41	9	chr3	129606618	.	C	T	393.41	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.87;DP=293;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0420;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=19.67;ReadPosRankSum=-7.700e-02;SOR=1.179	GT:AD:DP:GQ:PL	0/0:10,0:10:30:0,30,296	19	0	1	1
chr3	129880382	129880382	C	T	exonic	TMCC1	.	nonsynonymous SNV	TMCC1:NM_001349271:exon2:c.G131A:p.G44E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	0.0010758	28	26028	rs189828511	.	3.817e-05	.	.	.	0	0	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0010	0.0011	0.0008	0.0015	0.0009	0.0008	0.0013	0.0012	0.0004	0	0.0005	0.0037	0	0	0.0068	0.0015	0.0014	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3636.08	114	chr3	129880382	.	C	T	3636.08	.	AC=2;AF=0.048;AN=42;DP=818;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.90;SOR=0.802	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1147	20	1	0	0
chr3	129976735	129976735	G	A	exonic	TRH	.	nonsynonymous SNV	TRH:NM_007117:exon3:c.G248A:p.R83H,	Thyrotropin-releasing hormone deficiency, Autosomal recessive	.	10	1510	2	0	0	2	0.000661813	.	.	439244	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	2.725	M	-0.14	T	-0.265	T	0.236	T	0.886	4.311	22.6	4.98	2.471	4.457	14.101	0.662	.	0.0110	0.0101837	0.0032	0.0299	0.0032	0	0	0.0005	0.0044	0.0005	0.0031759	491	154602	rs61740106	0.0012	0.0012	0.0013	0.0011	0.0319	0.0012	0.0012	0.0303	0.0297	0.0319	0.0036	0.0016	0	0	0.0040	0.0002	0.0033	0.0005	0.0092	0.0092	0.0098	0.0086	0.0298	0.0088	0.0087	0.0284	0.0279	0.0298	0	0.0072	0.0029	0.0002	0	0	0.0003	0.0109	0.0002	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	3.02	0.86243	M	-0.14	0.65006	T	-4.55	0.78553	D	0.668	0.67908	-0.2651	0.75948	T	0.236	0.60319	T	10	0.01296562	0.00276	T	.	.	.	0.662	0.87381	.	.	0.90926522634	0.90835	0.22992747099110933	0.22907	0.52095588289	0.49879	0.628373265266	0.56914	T	0.638808	0.88897	D	-0.0281134	0.47691	T	0.209838	0.83656	D	0.0276696057880088	0.01641	T	0.871513	0.58386	D	0.68795	0.77400	0.5851145	0.75942	0.68795	0.77402	0.5851145	0.75942	-10.522	0.76973	D	.	.	0.312	0.53951	B	.;.	.;.	5.059652	0.84328	28.3	0.99937857556804743	0.99698	0.88173	0.47984	D	AEFDBI	0.452767	0.50618	N	0.743382019163356	0.82472	7.771286	0.674293892333898	0.80431	7.297386	0.999999897570892	0.74766	0.582742	0.33608	0	0.563428	0.19063	0	0.61531	0.40942	0	0.530356	0.10902	0	.	.	4.98	4.98	0.65679	5.041000	0.63995	7.246000	0.57915	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.901000	0.43729	0.0:0.0:1.0:0.0	14.101	0.64581	849	0.35778	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1032.98	63	chr3	129976735	.	G	A	1032.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.865;DP=1391;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.13;ReadPosRankSum=0.206;SOR=0.660	GT:AD:DP:GQ:PL	0/1:58,44:102:99:1047,0,1387	20	0	1	0
chr3	129977080	129977080	G	A	exonic	TRH	.	nonsynonymous SNV	TRH:NM_007117:exon3:c.G593A:p.G198E,	Thyrotropin-releasing hormone deficiency, Autosomal recessive	.	10	1511	1	0	0	1	0.000330797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.016	B	0.045	B	0.000	N	1.000	N	0.55	N	1.14	T	-1.043	T	0.046	T	0.167	-1.197	0.074	1.63	0.605	0.448	5.824	0.033	0.00717964593594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.914e-07	6.841e-07	0	1.393e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.681e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	0.16038	T	1.0	0.01155	T	0.016	0.17332	B	0.045	0.24526	B	0.000407	0.44736	N	0.225099	0.999837	0.20152	N	1.285	0.32305	L	1.14	0.38397	T	-0.11	0.08653	N	0.109	0.10198	-1.0429	0.16443	T	0.046	0.19720	T	10	0.08925909	0.15446	T	0.00718	0.19034	T	0.033	0.08068	0.606	0.73825	0.330589388543	0.32661	0.03230142106334254	0.03178	0.135011463616	0.15216	0.521457314491	0.41832	T	0.162366	0.50700	T	-0.222216	0.17692	T	-0.556975	0.16663	T	0.0621857866644859	0.07508	T	0.583942	0.21221	T	0.04781679	0.08234	0.072394714	0.15614	0.04781679	0.08234	0.072394714	0.15613	-4.698	0.33380	T	.	.	0.103	0.18331	B	.;.	.;.	1.234977	0.16299	12.45	0.33112039275101424	0.01955	0.14104	0.18224	N	AEFDBI	0.041820	0.06409	N	-0.973706409188998	0.09168	0.4327923	-0.928157764123229	0.11431	0.582307	0.394938627063158	0.20080	0.582742	0.33608	0	0.563428	0.19063	0	0.61531	0.40942	0	0.530356	0.10902	0	.	.	4.94	1.63	0.22882	0.801000	0.26716	2.276000	0.31865	-0.127000	0.13314	0.724000	0.28861	0.974000	0.29927	0.020000	0.11549	0.3808:0.0:0.6192:0.0	5.824	0.17800	849	0.35778	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1487.98	63	chr3	129977080	.	G	A	1487.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.614;DP=1441;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=0.288;SOR=0.638	GT:AD:DP:GQ:PL	0/0:85,0:85:99:0,120,1800	20	0	1	0
chr3	129977182	129977182	G	A	exonic	TRH	.	nonsynonymous SNV	TRH:NM_007117:exon3:c.G695A:p.R232Q,	Thyrotropin-releasing hormone deficiency, Autosomal recessive	.	9	1510	3	0	0	3	0.000992392	.	.	733790	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.05	D	0.913	P	0.198	B	0.004	N	1.000	N	1.545	L	0.44	T	-0.954	T	0.111	T	0.333	0.953	8.889	3.51	1.146	1.356	9.421	0.088	.	0.0002	0.0107827	0.0032	0	0.0003	0.0002	0	6.507e-05	0.0013	0.0364	0.0032276	499	154602	rs199889071	0.0018	0.0019	0.0010	0.0026	0.0321	0.0018	0.0017	0.0310	0.0306	0.0002	0.0002	0	0.0003	2.01e-05	0.0027	7.959e-05	0.0022	0.0321	0.0013	0.0013	0.0008	0.0018	0.0386	0.0012	0.0011	0.0341	0.0323	7.217e-05	0	6.533e-05	0	0.0008	0	0	7.352e-05	0.0005	0.0386	0.084	0.33091	T	0.043	0.50809	D	0.913	0.50474	P	0.198	0.36766	B	0.003517	0.34847	N	0.302445	0.999999	0.08975	N	2.365	0.68172	M	0.44	0.56772	T	-2.7	0.57599	D	0.186	0.20262	-0.9542	0.40238	T	0.111	0.39794	T	10	0.003676027	0.00067	T	.	.	.	0.088	0.25558	.	.	0.519514513453	0.51594	0.13597089772795282	0.13521	0.115387954298	0.13013	0.424249410629	0.28421	T	0.88847	0.97715	D	-0.449013	0.01145	T	-0.391293	0.34400	T	0.0365849733857474	0.03083	T	0.736326	0.35642	T	0.071399294	0.15804	0.09796933	0.23341	0.071399294	0.15804	0.09796933	0.23340	-8.578	0.64944	D	.	.	0.185	0.40015	B	.;.	.;.	2.180005	0.27787	17.58	0.98451662555366426	0.41631	0.24434	0.22392	N	AEFDBI	0.067634	0.13304	N	-0.248510343005741	0.31162	1.744669	-0.347352998728708	0.26591	1.469767	0.941983378027235	0.27502	0.549168	0.22868	0	0.563428	0.19063	0	0.590023	0.30420	0	0.530356	0.10902	0	.	.	4.42	3.51	0.39297	1.916000	0.39617	2.569000	0.33354	0.676000	0.76740	0.988000	0.36536	0.406000	0.24735	0.008000	0.08271	0.0:0.0:0.7781:0.2219	9.421	0.37716	850	0.35610	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1250.98	88	chr3	129977182	.	G	A	1250.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.678;DP=1684;ExcessHet=0.0000;FS=3.809;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.31;ReadPosRankSum=2.13;SOR=1.085	GT:AD:DP:GQ:PL	0/0:82,0:82:99:0,120,1800	20	0	1	0
chr3	130379796	130379796	C	T	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon4:c.C1046T:p.P349L	.	.	428	1044	47	3	0	53	0.0247548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.696	P	0.283	B	.	.	1.000	N	1.79	L	-1.69	D	-0.446	T	0.458	T	0.173	2.298	13.64	5.34	2.503	1.076	12.876	0.228	.	.	0.00199681	0.0131	0.0005	0.0049	0	0	0.0039	0.0158	0.0279	0.0021539	333	154602	rs142949552	0.0030	0.0028	0.0023	0.0037	0.0240	0.0029	0.0029	0.0231	0.0227	0.0006	0.0015	0.0040	5.597e-05	0.0002	0.0226	0.0016	0.0043	0.0240	0.0021	0.0021	0.0019	0.0024	0.0204	0.0019	0.0019	0.0171	0.0159	0.0004	0	0.0015	0.0063	0	0.0005	0.0170	0.0021	0.0047	0.0204	0.017	0.51248	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.69	0.82985	D	-3.96	0.73579	D	0.058	0.02964	-0.4461	0.70529	T	0.458	0.78901	T	9	0.005708158	0.00127	T	.	.	.	0.228	0.52768	.	.	.	.	0.41726518107133853	0.41642	0.188780204204	0.21197	0.303890168667	0.10984	T	0.18915	0.54328	T	-0.378357	0.03190	T	-0.297336	0.45005	T	0.0376475582209328	0.03269	T	0.787421	0.42665	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.26545	B	.	.	2.481712	0.32005	18.91	0.99593865867800668	0.73748	0.12434	0.17266	N	AEFDBI	0.155089	0.28022	N	-0.088144379818127	0.37910	2.212591	-0.0915332530468588	0.35738	2.071255	0.999450908489858	0.39788	0.742599	0.98188	0	0.588764	0.42986	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.34	5.34	0.75982	0.554000	0.23113	4.837000	0.45250	0.599000	0.40250	0.000000	0.06391	0.542000	0.25421	0.150000	0.20306	0.163:0.8369:0.0:0.0	12.876	0.57381	402	0.82617	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.09524	8044.92	39	chr3	130379796	.	C	T	8044.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-1.680e+00;DP=1213;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=14.44;ReadPosRankSum=-7.440e-01;SOR=0.692	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1575	17	0	4	0
chr3	130388984	130388984	G	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon6:c.G2266A:p.V756M	.	.	419	1093	8	2	0	12	0.00545951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	.	.	0.955	N	2.995	M	-2.16	D	0.155	D	0.792	D	0.483	2.114	13.03	3.67	1.305	2.061	9.589	0.524	0.0195653090711	0.0004	0.000399361	0.0025	0	0	0	0	0.0032	0	0.0028	0.0003752	58	154602	rs377358492	0.0005	0.0005	0.0004	0.0006	0.0024	0.0005	0.0004	0.0021	0.0020	3.176e-05	0.0002	0.0086	2.8e-05	4.071e-05	0.0019	0.0002	0.0010	0.0024	0.0005	0.0005	0.0006	0.0005	0.0031	0.0004	0.0004	0.0019	0.0015	4.813e-05	0	6.544e-05	0.0098	0	0	0.0068	0.0004	0.0005	0.0031	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.955082	0.26346	N	.	.	.	-2.16	0.86549	D	-2.67	0.57110	D	0.393	0.43417	0.155	0.85138	D	0.792	0.92959	D	9	0.009914666	0.00222	T	0.019565	0.41966	T	0.524	0.79825	.	.	0.716472666699	0.71398	0.3207367982669869	0.31986	0.237652843906	0.26305	0.44507342577	0.31271	T	0.453123	0.79318	T	-0.223272	0.17547	T	-0.0999667	0.63400	T	0.136437611826697	0.15965	T	0.79512	0.43772	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.57969	A	.	.	4.027593	0.59527	24.1	0.99658042523168722	0.77757	0.79873	0.39667	D	AEFGBCI	0.302856	0.41098	N	0.475063636275797	0.65638	4.847744	0.332550711983892	0.57460	3.912014	0.999996764386553	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.48	3.67	0.41236	1.255000	0.32512	5.214000	0.47976	0.676000	0.76740	0.459000	0.26636	1.000000	0.68203	0.785000	0.37106	0.2299:0.0:0.7701:0.0	9.589	0.38699	403	0.82567	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1630.98	37	chr3	130388984	.	G	A	1630.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.006e+00;DP=834;ExcessHet=0.0000;FS=1.430;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=1.46;SOR=0.554	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1260	20	0	1	0
chr3	130389041	130389041	A	T	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon6:c.A2323T:p.S775C	.	.	418	1098	6	0	0	6	0.0027248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	.	.	0.939	D	2.98	M	-1.24	T	0.474	D	0.643	D	0.613	2.414	14.03	5.48	2.071	4.306	9.137	0.602	0.0558982563132	.	.	7.537e-05	0	0.0030	0	0	0	0	0	2.59e-05	4	154602	rs767687973	6.979e-05	6.909e-05	5.625e-05	8.384e-05	0.0011	5.829e-05	5.414e-05	0.0005	0.0003	0	0.0003	4.345e-05	0	0	0.0011	6.124e-05	0.0001	0.0001	9.194e-05	9.186e-05	7.71e-05	0.0001	0.0002	5.525e-05	4.362e-05	6.806e-05	5.089e-05	0	0.0011	6.539e-05	0.0003	0	0	0.0034	0.0001	0	0.0002	0.003	0.68238	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.939273	0.37255	D	.	.	.	-1.24	0.78967	T	-3.84	0.72240	D	0.357	0.39861	0.474	0.90185	D	0.643	0.87528	D	9	0.07914257	0.12696	T	0.055898	0.66404	D	0.602	0.84291	0.635	0.77142	0.712809657963	0.71029	0.4005490180935694	0.39969	0.23887650308	0.26443	0.496764540672	0.38377	T	0.354452	0.72160	T	-0.10781	0.35129	T	-0.0477003	0.67180	D	0.467352825145303	0.31434	T	0.894111	0.63286	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.491	0.64155	A	.	.	4.685943	0.75034	26.3	0.96283732649369735	0.29289	0.91545	0.53754	D	AEFGBCI	0.740940	0.68503	D	0.703211432937609	0.79844	7.164133	0.620114996494954	0.76401	6.484406	0.999999984571809	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.48	5.48	0.80675	5.958000	0.70050	11.294000	0.92114	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.836000	0.39433	0.9173:0.0:0.0827:0.0	9.137	0.36041	403	0.82567	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1113.98	37	chr3	130389041	.	A	T	1113.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.670e-01;DP=814;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.37;ReadPosRankSum=1.29;SOR=0.654	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1260	20	0	1	0
chr3	130397612	130397612	G	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon9:c.G3598A:p.D1200N	.	.	416	1096	10	0	0	10	0.00454133	.	.	2434131	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	1.0	D	1.0	D	.	.	0.975	D	2.125	M	-0.63	T	0.115	D	0.528	D	0.188	3.023	16.08	5.25	2.439	4.881	17.625	0.344	0.0253041525398	.	.	0.0004	0	0	0	0	0.0006	0	0.0003	7.12e-05	11	154602	rs756549440	0.0002	0.0002	0.0002	0.0002	0.0043	0.0002	0.0002	0.0030	0.0025	0	0.0004	3.985e-05	5.597e-05	0	0.0043	0.0002	0.0003	0.0005	0.0003	0.0003	0.0003	0.0003	0.0007	0.0002	0.0002	0.0004	0.0003	4.833e-05	0	0.0007	0	0	0	0	0.0004	0.0005	0.0004	0.008	0.58626	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.974656	0.39123	D	.	.	.	-0.63	0.72011	T	-4.38	0.77143	D	0.308	0.34767	0.115	0.84440	D	0.528	0.82468	D	9	0.26076612	0.43529	T	0.025304	0.48284	D	0.344	0.66582	.	.	0.575545942349	0.57224	0.12056601265177987	0.11983	0.085913155872	0.09707	0.522419929504	0.41967	T	0.338649	0.70789	T	-0.317562	0.07100	T	-0.339898	0.40355	T	0.160137083676557	0.17882	T	0.914909	0.69682	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.451	0.62276	A	.	.	3.444845	0.47939	22.5	0.99696422554642572	0.80316	0.95215	0.63864	D	AEFI	0.708356	0.66279	D	0.592435550281159	0.72701	5.847416	0.523854329330069	0.69600	5.38345	0.999999989657726	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.25	5.25	0.73169	5.037000	0.63964	7.550000	0.60255	-0.111000	0.15049	1.000000	0.71638	1.000000	0.68203	0.010000	0.09038	0.0:0.0:1.0:0.0	17.625	0.87994	376	0.83959	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1082.98	33	chr3	130397612	.	G	A	1082.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=785;ExcessHet=0.0000;FS=4.847;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.31;ReadPosRankSum=0.479;SOR=1.002	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1347	20	0	1	0
chr3	130421334	130421337	GGAT	-	exonic	COL6A5	.	frameshift deletion	COL6A5:NM_001278298:exon27:c.5011_5014del:p.G1671Sfs*28	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	50.94	34	chr3	130421333	.	AGGAT	A	50.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.593e+00;DP=884;ExcessHet=0.0000;FS=30.925;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.68;ReadPosRankSum=1.15;SOR=5.135	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485	20	0	1	0
chr3	130421334	130421334	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5011C:p.G1671R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	0.746	D	2.525	M	-6.29	D	1.094	D	0.984	D	0.953	2.043	12.79	5.29	2.648	4.837	14.806	0.797	0.164375721412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.145e-06	2.052e-06	0	4.35e-06	2.783e-06	5.7e-07	1.6e-07	7.4e-07	2.1e-07	0	0	0	0	0	0	2.783e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.745532	0.33870	D	.	.	.	-6.29	0.99632	D	-5.91	0.88904	D	0.939	0.94550	1.094	0.99422	D	0.984	0.99521	D	9	0.9844847	0.98645	D	0.164376	0.84350	D	0.797	0.93346	0.939	0.99156	0.586235444834	0.58297	0.9414209663944619	0.94123	0.243824273026	0.26889	0.697831511497	0.66831	T	0.415688	0.76886	T	0.521084	0.94919	D	0.510724	0.94844	D	0.997076034545898	0.90711	D	0.905809	0.66782	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.859	0.80266	P	.	.	5.150285	0.86261	28.9	0.99794094919957821	0.87928	0.95070	0.63328	D	AEFBI	0.711476	0.66491	D	0.700525877457095	0.79667	7.126234	0.630267782049677	0.77149	6.623992	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	739.91	44	chr3	130421334	.	G	C,*	739.91	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-3.709e+00;DP=1024;ExcessHet=1.7912;FS=120.026;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=1.94;ReadPosRankSum=0.653;SOR=8.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0,0:39:72:.:.:0,72,832,72,832,832	15	0	5	0
chr3	130421334	130421334	G	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	739.91	44	chr3	130421334	.	G	C,*	739.91	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-3.709e+00;DP=1024;ExcessHet=1.7912;FS=120.026;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=1.94;ReadPosRankSum=0.653;SOR=8.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0,0:39:72:.:.:0,72,832,72,832,832	15	0	5	0
chr3	130421335	130421335	G	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012A:p.G1671E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	0.724	D	2.525	M	-6.28	D	1.094	D	0.984	D	0.964	2.130	13.08	5.29	2.648	4.837	14.806	0.794	0.167130559847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.723514	0.33642	D	.	.	.	-6.28	0.99614	D	-5.87	0.88630	D	0.94	0.94668	1.094	0.99395	D	0.984	0.99521	D	9	0.985523	0.98809	D	0.167131	0.84557	D	0.794	0.93227	0.951	0.99428	0.644124591191	0.64118	0.9735298133118696	0.97341	0.262336419958	0.28795	0.683480918407	0.64769	T	0.416298	0.76929	T	0.521063	0.94919	D	0.510694	0.94844	D	0.997076034545898	0.90711	D	0.920008	0.71084	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.836	0.79050	P	.	.	5.173918	0.86733	29.0	0.99152888611040157	0.53875	0.94007	0.59833	D	AEFBI	0.669031	0.63661	D	0.704442869841399	0.79923	7.181635	0.635508156860711	0.77535	6.698256	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	5242.03	42	chr3	130421335	.	G	A,C,*	5242.03	.	AC=4,10,1;AF=0.133,0.333,0.033;AN=30;BaseQRankSum=-1.383e+00;DP=1214;ExcessHet=18.9861;FS=227.116;InbreedingCoeff=-0.7500;MLEAC=5,12,1;MLEAF=0.167,0.400,0.033;MQ=60.00;MQRankSum=0.00;QD=5.72;ReadPosRankSum=0.500;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:35,0,0,0:35:0:.:.:0,0,512,0,512,512,0,512,512,512	0	0	4	6
chr3	130421335	130421335	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012C:p.G1671A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	.	.	0.511	D	2.525	M	-6.27	D	1.074	D	0.984	D	0.872	2.027	12.73	5.29	2.648	4.837	14.806	0.734	0.176336760823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0050	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	4.02e-05	5.624e-05	0	0	0.0002	0.0001	5.098e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	0.511236	0.31821	D	.	.	.	-6.27	0.99601	D	-4.41	0.77391	D	0.838	0.83371	1.074	0.98698	D	0.984	0.99524	D	9	0.9859581	0.98878	D	0.176337	0.85213	D	0.734	0.90721	0.961	0.99598	0.862445812811	0.86111	0.899606335700418	0.89932	0.247077292364	0.27244	0.620524644852	0.55803	T	0.407117	0.76282	T	0.482482	0.93793	D	0.455275	0.93714	D	0.994999051094055	0.86650	D	0.931207	0.74412	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.63186	A	.	.	5.124875	0.85741	28.7	0.99596083398483337	0.73925	0.95070	0.63328	D	AEFBI	0.655440	0.62778	D	0.702238441851499	0.79779	7.150365	0.633624628633071	0.77398	6.671322	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	5242.03	42	chr3	130421335	.	G	A,C,*	5242.03	.	AC=4,10,1;AF=0.133,0.333,0.033;AN=30;BaseQRankSum=-1.383e+00;DP=1214;ExcessHet=18.9861;FS=227.116;InbreedingCoeff=-0.7500;MLEAC=5,12,1;MLEAF=0.167,0.400,0.033;MQ=60.00;MQRankSum=0.00;QD=5.72;ReadPosRankSum=0.500;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:35,0,0,0:35:0:.:.:0,0,512,0,512,512,0,512,512,512	0	0	4	6
chr3	130421335	130421335	G	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5242.03	42	chr3	130421335	.	G	A,C,*	5242.03	.	AC=4,10,1;AF=0.133,0.333,0.033;AN=30;BaseQRankSum=-1.383e+00;DP=1214;ExcessHet=18.9861;FS=227.116;InbreedingCoeff=-0.7500;MLEAC=5,12,1;MLEAF=0.167,0.400,0.033;MQ=60.00;MQRankSum=0.00;QD=5.72;ReadPosRankSum=0.500;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:35,0,0,0:35:0:.:.:0,0,512,0,512,512,0,512,512,512	0	0	4	6
chr3	130421337	130421337	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.T5014C:p.F1672L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.916	P	0.583	P	.	.	0.994	N	2.525	M	-3.16	D	-0.023	T	0.759	D	0.237	2.052	12.82	1.49	0.394	1.106	3.899	0.345	0.0596216124172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0065	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0007	0.0006	0	0.0001	0.0002	0	0	0.0008	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	0.994102	0.23586	N	.	.	.	-3.21	0.93291	D	-4.25	0.76094	D	0.346	0.38746	-0.0234	0.81768	T	0.759	0.91798	D	9	0.33778954	0.50895	T	0.059622	0.67727	D	0.345	0.66676	0.293	0.25560	0.772553812157	0.77047	0.6545526502865353	0.65391	0.0445941632002	0.04821	0.518319308758	0.41390	T	0.066183	0.32881	T	0.0586812	0.59446	T	-0.153485	0.58935	T	0.887333691120148	0.53783	D	0.69513	0.30474	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.73446	P	.	.	3.513518	0.49220	22.7	0.9944396451167653	0.64921	0.69566	0.34238	D	AEFBI	0.198693	0.32554	N	0.0829394031833179	0.45667	2.819489	0.0156810835164205	0.40442	2.413623	1.72206950552093E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	1.49	0.21966	0.820000	0.26979	1.068000	0.23780	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.1594:0.1801:0.0:0.6605	3.899	0.08653	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	5430.93	51	chr3	130421337	.	T	C,*	5430.93	.	AC=14,1;AF=0.467,0.033;AN=30;BaseQRankSum=0.613;DP=1245;ExcessHet=17.4423;FS=223.593;InbreedingCoeff=-0.7500;MLEAC=17,1;MLEAF=0.567,0.033;MQ=60.00;MQRankSum=0.00;QD=5.88;ReadPosRankSum=0.198;SOR=11.312	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:37,0,0:37:0:.:.:0,0,374,0,374,374	0	0	14	6
chr3	130421337	130421337	T	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5430.93	51	chr3	130421337	.	T	C,*	5430.93	.	AC=14,1;AF=0.467,0.033;AN=30;BaseQRankSum=0.613;DP=1245;ExcessHet=17.4423;FS=223.593;InbreedingCoeff=-0.7500;MLEAC=17,1;MLEAF=0.567,0.033;MQ=60.00;MQRankSum=0.00;QD=5.88;ReadPosRankSum=0.198;SOR=11.312	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:37,0,0:37:0:.:.:0,0,374,0,374,374	0	0	14	6
chr3	130421338	130421338	-	CACC	exonic	COL6A5	.	frameshift insertion	COL6A5:NM_001278298:exon27:c.5015_5016insCACC:p.P1673Tfs*10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3235	2256.56	51	chr3	130421338	.	T	C,TCACC	2256.56	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=-1.635e+00;DP=1199;ExcessHet=7.7275;FS=148.515;InbreedingCoeff=-0.4684;MLEAC=12,1;MLEAF=0.353,0.029;MQ=60.00;MQRankSum=0.00;QD=3.34;ReadPosRankSum=0.071;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0,0:42:7:.:.:0,7,861,7,861,861	6	0	10	4
chr3	130565072	130565072	A	G	exonic	COL6A6	.	nonsynonymous SNV	COL6A6:NM_001102608:exon3:c.A740G:p.Y247C,	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.828	P	0.52	P	0.356	N	1.000	N	1.585	L	-1.7	D	-0.550	T	0.432	T	0.403	-0.126	3.385	-0.673	-0.262	0.416	6.766	0.396	0.0341706164559	0.0003	0.000399361	0.0001	0.0007	0	0	0	1.5e-05	0	0.0003	0.0001035	16	154602	rs187765736	8.484e-05	8.482e-05	6.807e-05	0.0001	0.0005	7.21e-05	6.797e-05	0.0004	0.0004	0.0004	0	0	0	0	0.0003	4.857e-05	0.0001	0.0005	0.0002	0.0002	0.0002	0.0001	0.0005	0.0001	9.695e-05	0.0004	0.0003	0.0005	0	0	0	0	0	0	0	0.0009	0.0002	0.162	0.23541	T	0.002	0.79402	D	0.828	0.46021	P	0.52	0.48197	P	0.356386	0.13737	N	0.662431	1	0.08975	N	2.585	0.75554	M	-1.7	0.83072	D	-2.66	0.56945	D	0.381	0.42247	-0.5496	0.66802	T	0.432	0.77355	T	10	0.09465328	0.16848	T	0.034171	0.55491	D	0.396	0.71084	.	.	0.260249123532	0.25628	0.4042719208634835	0.40343	0.27678225461	0.30148	0.352663248777	0.18313	T	0.210184	0.57060	T	-0.258224	0.13108	T	-0.254664	0.49354	T	0.10632034801284	0.13039	T	0.678032	0.28700	T	0.31761444	0.54437	0.28182268	0.54166	0.31761444	0.54437	0.28182268	0.54165	-7.044	0.54354	T	.	.	0.120	0.24733	B	.	.	1.385912	0.17977	13.48	0.79853184302477787	0.12930	0.22349	0.21716	N	AEFBI	0.145927	0.26926	N	-0.973294173072837	0.09177	0.4332482	-1.12853218820765	0.07159	0.3471937	1.33274751317059E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.09	-0.673	0.10802	0.421000	0.20999	2.369000	0.32418	-0.729000	0.03740	0.000000	0.06391	0.001000	0.17328	0.011000	0.09372	0.3174:0.3471:0.0:0.3354	6.766	0.22755	671	0.60868	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1153.98	46	chr3	130565072	.	A	G	1153.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.119;DP=865;ExcessHet=0.0000;FS=2.854;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=0.465;SOR=0.409	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1228	20	0	1	0
chr3	130565302	130565302	A	G	exonic	COL6A6	.	nonsynonymous SNV	COL6A6:NM_001102608:exon3:c.A970G:p.N324D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.183	B	0.085	B	0.204	N	1.000	N	0.55	N	-1.73	D	-0.833	T	0.307	T	0.033	-0.349	2.353	-1.69	-0.208	-0.049	5.426	0.117	0.0219298283181	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.16144	T	0.661	0.06490	T	0.183	0.29179	B	0.085	0.29395	B	0.203673	0.03337	N	1.524160	1	0.08975	N	1.32	0.33002	L	-1.73	0.83327	D	-1.21	0.30762	N	0.062	0.03392	-0.8331	0.53100	T	0.307	0.67759	T	10	0.1610119	0.30213	T	0.02193	0.44763	T	0.117	0.32689	0.474	0.55020	0.303453137403	0.29957	0.5830405772068503	0.58233	0.0845240444545	0.09546	0.311166584492	0.12082	T	0.069369	0.33693	T	-0.2123	0.19057	T	-0.54273	0.18029	T	0.25602975487709	0.23141	T	0.277072	0.04771	T	0.10605072	0.25075	0.07188411	0.15443	0.10605072	0.25075	0.07188411	0.15442	-5.126	0.38180	T	.	.	0.092	0.13409	B	.	.	0.954371	0.13308	9.808	0.73079507606796457	0.10199	0.03817	0.09155	N	AEFBHCI	0.041440	0.06300	N	-1.03606136876118	0.07864	0.3667513	-1.07255110280011	0.08244	0.4044801	1.40037635229007E-4	0.05486	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.01	-1.69	0.07747	0.014000	0.13228	0.744000	0.21184	-0.095000	0.16041	0.000000	0.06391	0.000000	0.08366	0.371000	0.26133	0.3912:0.2848:0.324:0.0	5.426	0.15725	658	0.62094	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1461.98	46	chr3	130565302	.	A	G	1461.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.978e+00;DP=947;ExcessHet=0.0000;FS=2.409;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=0.049;SOR=0.500	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1228	20	0	1	0
chr3	130571225	130571225	C	T	exonic	COL6A6	.	nonsynonymous SNV	COL6A6:NM_001102608:exon6:c.C2809T:p.R937W,	.	.	431	1084	7	0	0	7	0.00321839	.	.	438256	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.987	D	0.000	D	1.000	N	2.78	M	-1.48	T	-0.171	T	0.630	D	0.748	2.976	15.92	-0.348	0.130	0.228	9.841	0.502	0.0780525447816	0.0033	0.000798722	0.0027	0.0009	0.0022	0	0.0014	0.0041	0.0034	0.0006	0.0006015	93	154602	rs111457392	0.0034	0.0034	0.0035	0.0032	0.0061	0.0033	0.0032	0.0045	0.0039	0.0010	0.0029	0.0024	0	0.0009	0.0061	0.0039	0.0031	0.0010	0.0022	0.0022	0.0022	0.0021	0.0050	0.0020	0.0019	0.0041	0.0037	0.0006	0	0.0050	0.0020	0	0.0009	0	0.0030	0.0024	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.987	0.77487	D	0.000067	0.52346	D	0.000000	1	0.08975	N	3.23	0.89537	M	-1.48	0.81150	T	-7.42	0.94814	D	0.759	0.75742	-0.1707	0.78411	T	0.630	0.87021	D	10	0.09041521	0.15750	T	0.078053	0.72915	D	0.502	0.78475	.	.	0.65729183307	0.65442	0.852140444280563	0.85176	0.352803517232	0.37101	0.565125703812	0.47990	T	0.538262	0.84143	D	-0.149589	0.28376	T	0.0146844	0.71286	D	0.104826968530216	0.12878	T	0.954105	0.82551	D	0.760357	0.81474	0.43731967	0.67155	0.760357	0.81476	0.43731967	0.67156	-10.675	0.77845	D	.	.	0.255	0.48998	B	.	.	3.833933	0.55435	23.6	0.99891192713163335	0.96513	0.09176	0.14984	N	AEFBI	0.406518	0.47897	N	0.139886643783906	0.48332	3.046928	-0.0528989722998284	0.37364	2.186816	1.17220063802798E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.82	-0.348	0.11987	-0.020000	0.12466	-0.580000	0.08381	0.599000	0.40250	0.206000	0.24378	0.004000	0.18990	0.519000	0.29452	0.682:0.2126:0.1054:0.0	9.841	0.40164	597	0.68309	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1775.98	36	chr3	130571225	.	C	T	1775.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=926;ExcessHet=0.0000;FS=0.686;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.18;ReadPosRankSum=-5.310e-01;SOR=0.782	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr3	130649254	130649254	G	A	exonic	COL6A6	.	nonsynonymous SNV	COL6A6:NM_001102608:exon32:c.G5425A:p.A1809T,	.	.	.	.	.	.	.	.	.	.	.	733794	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.001	B	0.002	B	.	.	1.000	N	-1.305	N	2.41	T	-0.939	T	0.005	T	0.057	-1.262	0.047	-4.93	-0.831	0.047	11.797	0.120	.	0.0002	0.00259585	0.0018	0	0.0004	0.0211	0.0014	0.0003	0.002	0.0009	0.0011384	176	154602	rs143290812	0.0009	0.0009	0.0009	0.0008	0.0259	0.0008	0.0008	0.0246	0.0241	0	0.0001	0	0.0259	0.0015	0.0002	6.611e-05	0.0005	0.0004	0.0007	0.0007	0.0006	0.0009	0.0156	0.0006	0.0006	0.0129	0.0119	0	0	6.546e-05	0	0.0156	0.0014	0	0.0002	0.0005	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.955	0.01252	N	2.41	0.15492	T	3.07	0.00131	N	0.043	0.01577	-0.9392	0.42743	T	0.005	0.01725	T	9	0.0073356032	0.00167	T	.	.	.	0.120	0.33359	.	.	0.18995819373	0.18626	0.3092756620404162	0.30840	0.0559409974053	0.06180	0.253213167191	0.04113	T	0.027178	0.19957	T	-0.742106	0.00020	T	-0.827729	0.01303	T	0.0105776826829217	0.00147	T	0.342966	0.07460	T	0.024146242	0.01219	0.083224975	0.19055	0.024146242	0.01218	0.083224975	0.19055	-0.496	0.00581	T	.	.	0.069	0.02993	B	.	.	-0.109094	0.03587	0.699	0.20859680298263159	0.00769	0.02617	0.07198	N	AEFI	0.068812	0.13590	N	-1.49888863544461	0.01858	0.08149647	-1.43898419102173	0.02871	0.1328853	0.00493012904604098	0.10764	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.45	-4.93	0.02839	-0.048000	0.11898	-2.061000	0.04272	-0.772000	0.03442	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.7862:0.1112:0.1026:0.0	11.797	0.51378	451	0.79296	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1034.98	37	chr3	130649254	.	G	A	1034.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=1040;ExcessHet=0.0000;FS=8.349;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.01;ReadPosRankSum=-5.330e-01;SOR=0.435	GT:AD:DP:GQ:PL	0/1:52,42:94:99:1049,0,1294	20	0	1	0
chr3	130661991	130661991	G	A	exonic	COL6A6	.	nonsynonymous SNV	COL6A6:NM_001102608:exon34:c.G6185A:p.G2062D,	.	.	427	1094	1	0	0	1	0.00045683	.	.	2284897	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	1.0	D	1.0	D	.	.	0.932	D	2.725	M	-2.03	D	0.721	D	0.756	D	0.651	3.417	17.55	5.17	1.571	4.340	11.924	0.644	0.047430954349	8.3e-05	.	8.286e-05	0	0	0	0	7.494e-05	0	0.0003	6.47e-05	10	154602	rs372431409	4.994e-05	4.994e-05	4.492e-05	5.501e-05	0.0010	4.059e-05	3.734e-05	0.0005	0.0003	0	0	0.0001	0	0	0.0010	2.428e-05	9.938e-05	0.0004	5.257e-05	5.254e-05	6.425e-05	4.035e-05	0.0004	2.557e-05	1.83e-05	7.29e-05	3.029e-05	2.414e-05	0	0	0	0	9.429e-05	0	5.88e-05	0	0.0004	0.001	0.78490	D	0.0	0.92824	D	0.998	0.73220	D	0.986	0.76916	D	.	.	.	.	0.931995	0.37007	D	3.155	0.88459	M	-2.03	0.85613	D	-5.95	0.89152	D	0.913	0.91505	0.721	0.93438	D	0.756	0.91675	D	9	0.9451467	0.93839	D	0.047431	0.62920	D	0.644	0.86485	.	.	0.665750352487	0.66293	0.5739850754486059	0.57327	0.409156735794	0.41733	0.550466656685	0.45923	T	0.447486	0.78973	T	-0.0188773	0.49012	T	0.0396552	0.72905	D	0.824996829032898	0.48146	D	0.941906	0.78301	D	0.7146814	0.78866	0.7352693	0.84354	0.7146814	0.78867	0.7352693	0.84355	-12.831	0.88654	D	.	.	0.916	0.83930	P	.	.	4.695326	0.75284	26.3	0.99725833786828255	0.82406	0.87275	0.46765	D	AEFBI	0.498742	0.53272	N	0.5554910787063	0.70419	5.498476	0.455725821692303	0.65087	4.779376	0.462217057372942	0.20634	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	6.04	5.17	0.70848	4.711000	0.61570	11.820000	0.97208	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.163000	0.20749	0.0679:0.13:0.8021:0.0	11.924	0.52089	448	0.79501	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2582.98	33	chr3	130661991	.	G	A	2582.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.326;DP=892;ExcessHet=0.0000;FS=1.761;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.38;ReadPosRankSum=0.421;SOR=0.757	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1407	20	0	1	0
chr3	130662194	130662194	G	A	exonic	COL6A6	.	nonsynonymous SNV	COL6A6:NM_001102608:exon34:c.G6388A:p.E2130K,	.	.	435	1078	9	0	0	9	0.00415704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.174	B	0.309	B	.	.	0.649	N	2.165	M	-1.66	D	-0.207	T	0.514	D	0.295	0.995	9.062	4.78	1.375	1.281	7.112	0.373	0.0611815695593	0.0002	0.000599042	0.0011	0	0.0003	0	0	0.0003	0.0033	0.0065	0.0008926	138	154602	rs200429976	0.0006	0.0006	0.0004	0.0008	0.0077	0.0006	0.0006	0.0072	0.0070	0	0.0003	0.0012	0	0	0.0033	0.0001	0.0007	0.0077	0.0004	0.0004	0.0003	0.0005	0.0066	0.0003	0.0003	0.0048	0.0042	0	0	0.0006	0.0014	0	0	0.0068	0.0002	0	0.0066	0.088	0.32296	T	0.082	0.41573	T	0.039	0.21116	B	0.058	0.26451	B	.	.	.	.	0.649219	0.30548	N	2.48	0.72069	M	-1.66	0.82715	D	-2.28	0.50830	N	0.498	0.53093	-0.2070	0.77491	T	0.514	0.81758	D	9	0.01188013	0.00258	T	0.061182	0.68248	D	0.373	0.69188	.	.	0.406531046227	0.40268	0.4079324959314167	0.40709	0.0806668327485	0.09078	0.52365309	0.42141	T	0.114709	0.43274	T	-0.338567	0.05488	T	-0.254539	0.49367	T	0.0531989376292782	0.06054	T	0.872413	0.57909	D	0.11866565	0.27955	0.18451215	0.41509	0.098672666	0.23276	0.1712546	0.39294	-3.643	0.18481	T	.	.	0.113	0.22171	B	.	.	3.429545	0.47660	22.5	0.9830423841511623	0.40078	0.74050	0.36220	D	AEFBI	0.147713	0.27145	N	-0.165391378672198	0.34582	1.975645	-0.0918761058173602	0.35725	2.070279	0.136304898275317	0.17188	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.66	4.78	0.60666	1.505000	0.35344	9.930000	0.82573	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.060000	0.15972	0.2898:0.0:0.7102:0.0	7.112	0.24574	448	0.79501	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1236.98	33	chr3	130662194	.	G	A	1236.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.480e-01;DP=819;ExcessHet=0.0000;FS=2.454;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=-3.870e-01;SOR=0.548	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1407	20	0	1	0
chr3	131025266	131025266	C	G	exonic	ASTE1	.	nonsynonymous SNV	ASTE1:NM_001288950:exon3:c.G41C:p.S14T	.	.	.	.	.	.	.	.	.	.	.	3477247	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.35	T	0.684	P	0.197	B	0.079	N	1.000	N	1.63	L	0.48	T	-1.047	T	0.099	T	0.179	0.899	8.654	1.66	0.275	0.564	4.778	0.048	0.0118738989364	0.0002	.	0.0002	0	8.658e-05	0	0	9.156e-05	0.0033	0.0006	0.0001423	22	154602	rs150834933	0.0001	0.0001	0.0001	0.0002	0.0009	0.0001	0.0001	0.0006	0.0005	8.961e-05	4.473e-05	0	0	0	0.0009	0.0001	9.936e-05	0.0007	9.19e-05	9.186e-05	7.708e-05	0.0001	0.0008	5.523e-05	4.361e-05	0.0003	0.0002	0	0	0	0	0	0	0	0.0001	0	0.0008	0.205	0.38407	T	0.15	0.32461	T	0.684	0.41517	P	0.138	0.36707	B	0.078874	0.21018	N	0.565755	1	0.08975	N	1.935	0.51832	L	0.48	0.55945	T	-0.95	0.25770	N	0.24	0.27077	-1.0467	0.15332	T	0.099	0.37034	T	10	0.029616952	0.01088	T	0.011874	0.29919	T	0.048	0.13305	.	.	0.32471235697	0.32085	0.4795721576454043	0.47877	0.300778704188	0.32432	0.358532011509	0.19171	T	0.017111	0.17733	T	-0.409167	0.02013	T	-0.446021	0.28136	T	0.014252508340214	0.00282	T	0.678632	0.28733	T	0.059057523	0.11956	0.045283347	0.06059	0.059057523	0.11956	0.045283347	0.06059	-9.088	0.68261	D	.	.	0.09	0.15025	B	.;.;.;.	.;.;.;.	1.719862	0.21895	15.39	0.89076386620100656	0.18491	0.21840	0.21542	N	AEFGBCI	0.186919	0.31422	N	-0.492034288372447	0.22342	1.192272	-0.567629012849817	0.20339	1.09539	0.999913137193669	0.45857	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.605231	0.38476	0	.	.	5.44	1.66	0.23081	0.607000	0.23906	1.440000	0.26519	0.599000	0.40250	0.046000	0.21249	0.005000	0.19230	0.772000	0.36596	0.1403:0.5671:0.0:0.2926	4.778	0.12559	627	0.65350	XPG N-terminal;XPG N-terminal;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1172.98	33	chr3	131025266	.	C	G	1172.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.699e+00;DP=867;ExcessHet=0.0000;FS=5.018;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.39;ReadPosRankSum=1.70;SOR=0.365	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,114,1710	20	0	1	0
chr3	131669683	131669683	G	A	exonic	CPNE4	.	nonsynonymous SNV	CPNE4:NM_001289112:exon7:c.C727T:p.R243W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.967	D	0.717	P	0.000	D	0.997	D	1.665	L	1.05	T	-0.889	T	0.155	T	0.851	3.367	17.35	3.77	0.657	0.919	11.701	0.254	0.0184835758497	.	.	3.325e-05	0	0	0.0004	0	0	0	6.077e-05	3.23e-05	5	154602	rs774900370	1.99e-05	2.121e-05	2.048e-05	1.931e-05	0.0004	1.396e-05	1.207e-05	0.0002	0.0002	0	0	0	0.0004	0	0	9.013e-06	3.32e-05	3.515e-05	1.315e-05	1.313e-05	2.571e-05	0	2.415e-05	2.19e-06	8.2e-07	.	.	2.415e-05	0	0	0	0	0	0	1.47e-05	0	0	0.009	0.58626	D	0.003	0.76473	D	0.967	0.56408	D	0.717	0.54739	P	0.000028	0.55875	D	0.157146	0.996525	0.43255	D	2.19	0.61577	M	1.05	0.39990	T	-2.79	0.59059	D	0.759	0.75834	-0.8891	0.49012	T	0.155	0.48670	T	10	0.68760407	0.71657	D	0.018484	0.40558	T	0.254	0.56428	0.644	0.78117	0.401208672323	0.39738	0.43545538180702575	0.43462	0.475146259266	0.46692	0.79273557663	0.80859	T	0.368199	0.73314	T	-0.0821481	0.39364	T	-0.0636277	0.66078	T	0.578229427337646	0.35550	D	0.984801	0.94749	D	0.17530163	0.38382	0.16661713	0.38482	0.17530163	0.38381	0.16661713	0.38482	-8.958	0.68670	D	.	.	0.219	0.44973	B	.;.;.;.;.;.	.;.;.;.;.;.	4.275636	0.65092	24.8	0.99914135896755196	0.98238	0.70065	0.34438	D	AEFBI	0.497160	0.53180	N	0.323319979134797	0.57346	3.901731	0.313956596982226	0.56360	3.799136	7.58350878974214E-5	0.04552	0.490419	0.18000	1	0.573888	0.26702	0	0.667716	0.60424	0	0.564101	0.26826	0	.	.	5.66	3.77	0.42499	1.150000	0.31250	2.708000	0.34213	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.5202:0.4798	11.701	0.50833	885	0.28214	C2 domain|C2 domain|C2 domain|Copine, C2B domain;.;C2 domain|C2 domain|C2 domain|Copine, C2B domain;.;C2 domain|C2 domain|C2 domain|Copine, C2B domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	6826.08	218	chr3	131669683	.	G	A	6826.08	.	AC=2;AF=0.048;AN=42;DP=898;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.31;SOR=1.402	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	1	0	0
chr3	132342614	132342626	GAGTAAAGTCTAC	-	exonic	ACP3	.	frameshift deletion	ACP3:NM_001292037:exon5:c.519_531del:p.S174Tfs*22	.	.	437	1082	3	0	0	3	0.0013844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	.	0.0012	0.0003	0.0004	0	0	0.0017	0	0.0012	0.0001153	3	26028	rs751367677	0.0008	0.0009	0.0007	0.0009	0.0014	0.0008	0.0007	0.0008	0.0007	5.996e-05	0.0007	0.0212	0	0	0.0014	0.0003	0.0019	0.0010	0.0010	0.0010	0.0011	0.0009	0.0006	0.0008	0.0008	0.0005	0.0004	2.409e-05	0	0.0005	0.0259	0	0	0	0.0006	0.0024	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1626.94	34	chr3	132342613	.	GGAGTAAAGTCTAC	G	1626.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.340e-01;DP=815;ExcessHet=0.0000;FS=1.550;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.40;ReadPosRankSum=1.80;SOR=0.860	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1112	20	0	1	0
chr3	132528316	132528316	T	G	exonic	DNAJC13	.	nonsynonymous SNV	DNAJC13:NM_015268:exon54:c.T6509G:p.L2170W	.	.	433	1087	2	0	0	2	0.000919118	.	.	2824943	not_provided|DNAJC13-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.992	D	0.001	D	1.000	D	2.475	M	2.1	T	-0.833	T	0.155	T	0.798	4.368	23.0	5.45	2.073	7.607	15.518	0.388	0.0642920073911	0.0028	.	0.0023	0.0012	0.0004	0	0.0009	0.0038	0.0044	6.058e-05	0.002348	363	154602	rs140537885	0.0043	0.0043	0.0044	0.0041	0.0051	0.0042	0.0042	0.0050	0.0050	0.0010	0.0007	0.0037	0	0.0012	0.0029	0.0051	0.0053	5.797e-05	0.0027	0.0027	0.0030	0.0025	0.0049	0.0025	0.0024	0.0045	0.0043	0.0008	0	0.0008	0.0032	0	0.0019	0.0034	0.0049	0.0014	0.0002	0.003	0.68238	D	0.002	0.79402	D	0.999	0.77913	D	0.992	0.80445	D	0.000859	0.41440	D	0.164616	0.999998	0.58761	D	2.75	0.80375	M	2.1	0.19990	T	-4.11	0.74980	D	0.771	0.76853	-0.8327	0.53127	T	0.155	0.48670	T	10	0.05158782	0.05064	T	0.064292	0.69232	D	0.388	0.70440	.	.	0.31506500091	0.31122	0.5111324767180695	0.51035	1.04644929279	0.75967	0.767448782921	0.77043	T	0.27713	0.64974	T	-0.216797	0.18432	T	-0.0822719	0.64736	T	0.0248581010235035	0.01254	T	0.950905	0.81262	D	0.37538135	0.58979	0.58415097	0.75888	0.37538135	0.58980	0.58415097	0.75889	-7.268	0.55967	T	.	.	0.575	0.67840	P	.	.	4.956911	0.81928	27.7	0.95880162325879781	0.28073	0.98330	0.81695	D	AEFBI	0.934912	0.92899	D	0.772175829522432	0.84339	8.260327	0.737239104847383	0.85200	8.510329	0.999999864566023	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.45	5.45	0.79688	7.648000	0.82647	7.862000	0.71495	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	15.518	0.75577	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	657.98	34	chr3	132528316	.	T	G	657.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.138e+00;DP=742;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-5.270e-01;SOR=0.610	GT:AD:DP:GQ:PL	0/1:28,29:57:99:672,0,752	20	0	1	0
chr3	132579529	132579529	T	C	exonic	ACAD11	.	nonsynonymous SNV	ACAD11:NM_032169:exon14:c.A1651G:p.I551V,	.	.	432	1075	15	0	0	15	0.00692841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.003	B	0.018	B	.	.	1.000	D	0.88	L	-3.6	D	-0.464	T	0.615	D	0.186	1.104	9.503	-1.38	-0.479	0.566	6.231	0.221	0.0533793123298	0.0008	0.000998403	0.0013	9.699e-05	0.0005	0	0	0.0011	0.0033	0.0042	0.001119	173	154602	rs145935457	0.0008	0.0008	0.0007	0.0010	0.0089	0.0008	0.0008	0.0069	0.0062	2.992e-05	0.0005	0.0107	0	0	0.0089	0.0004	0.0017	0.0042	0.0009	0.0009	0.0008	0.0010	0.0064	0.0008	0.0007	0.0046	0.0040	7.218e-05	0	0.0008	0.0107	0.0002	0	0.0274	0.0006	0.0019	0.0064	0.386	0.10980	T	0.338	0.18125	T	0.003	0.11197	B	0.018	0.18489	B	.	.	.	.	0.984071	0.40097	D	0.78	0.19475	N	-3.6	0.95009	D	-0.65	0.18877	N	0.192	0.21056	-0.4637	0.69944	T	0.615	0.86405	D	9	0.00823307	0.00187	T	0.053379	0.65443	D	0.221	0.51721	.	.	0.259272394797	0.25527	0.5479051598771657	0.54716	0.138649771766	0.15636	.	.	.	0.327657	0.69814	T	-0.309363	0.07805	T	-0.217299	0.52996	T	0.00530825462553219	0.00057	T	0.884611	0.60805	D	0.039101075	0.05337	0.096476026	0.22923	0.039101075	0.05336	0.096476026	0.22923	-6.449	0.49891	T	.	.	0.058	0.00717	B	.	.	1.120952	0.15069	11.56	0.83646762694468668	0.14841	0.72327	0.35405	D	AEFBCI	0.178518	0.30579	N	-0.728291780588858	0.15229	0.7656956	-0.666587281659472	0.17798	0.9480021	0.734480457036703	0.23107	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.54	-1.38	0.08554	0.695000	0.25205	-2.528000	0.03645	0.609000	0.47794	0.999000	0.42656	0.000000	0.08366	0.959000	0.51448	0.0:0.2757:0.122:0.6023	6.231	0.19947	834	0.38640	Acyl-CoA oxidase/dehydrogenase, central domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	525.98	43	chr3	132579529	.	T	C	525.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.435e+00;DP=768;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.41;ReadPosRankSum=1.36;SOR=0.675	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1238	20	0	1	0
chr3	132619490	132619490	G	C	exonic	ACAD11	.	nonsynonymous SNV	ACAD11:NM_032169:exon10:c.C1253G:p.P418R,	.	.	527	990	4	1	0	6	0.00302115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	1.0	D	1.0	D	.	.	1.000	D	2.265	M	1.81	T	1.049	D	0.985	D	0.767	3.132	16.47	4.92	1.399	4.814	14.945	0.735	.	0.0003	0.00259585	0.0019	9.69e-05	0.0010	0	0	0.0006	0.0056	0.0101	0.0016753	259	154602	rs148899232	0.0008	0.0009	0.0005	0.0010	0.0106	0.0008	0.0007	0.0084	0.0077	0.0004	0.0011	0.0008	2.592e-05	0	0.0106	0.0002	0.0013	0.0082	0.0008	0.0008	0.0005	0.0012	0.0100	0.0007	0.0007	0.0077	0.0069	0.0001	0	0.0023	0.0003	0	0	0.0102	0.0005	0.0014	0.0100	0.087	0.43085	T	0.109	0.37449	T	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999913	0.81001	D	3.43	0.92015	M	-6.42	0.99687	D	-4.2	0.75695	D	0.72	0.72209	1.049	0.98105	D	0.985	0.99561	D	9	0.00976187	0.00219	T	.	.	.	0.735	0.90764	.	.	0.987481040417	0.98734	0.7004209777693364	0.69983	0.641984679815	0.57776	.	.	.	0.62002	0.88076	D	0.0493975	0.58265	T	0.302745	0.88321	D	0.159044825812494	0.17801	T	0.765923	0.39447	T	0.6625053	0.76033	0.6638716	0.80295	0.6625053	0.76034	0.6638716	0.80296	-7.753	0.59375	D	.	.	0.372	0.64449	A	.;.	.;.	4.374519	0.67375	25.1	0.99674530769926195	0.78846	0.93991	0.59785	D	AEFGBI	0.620963	0.60583	D	0.616820060762509	0.74236	6.098817	0.583016148027399	0.73721	6.017323	0.985536609772924	0.30904	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.82	4.92	0.64147	5.228000	0.65139	9.890000	0.82266	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.8558:0.1442	14.945	0.70675	845	0.36510	Acyl-CoA dehydrogenase/oxidase, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	253.98	33	chr3	132619490	.	G	C	253.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.946;DP=748;ExcessHet=0.0000;FS=2.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.10;ReadPosRankSum=-1.242e+00;SOR=1.173	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1124	20	0	1	0
chr3	133380888	133380888	T	G	exonic	TMEM108	.	nonsynonymous SNV	TMEM108:NM_001136469:exon4:c.T1177G:p.S393A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.663	P	0.269	B	0.860	N	1.000	N	1.935	M	0.64	T	-0.994	T	0.133	T	0.074	2.188	13.27	0.083	0.158	0.076	6.119	0.047	0.01095572054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1335973324	4.104e-06	4.104e-06	5.445e-06	2.75e-06	0.0002	1.48e-06	9.7e-07	8.4e-07	5.7e-07	0	0	0	0	0	0.0002	3.597e-06	1.656e-05	0	1.315e-05	1.313e-05	2.57e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.017	0.51248	D	0.365	0.16717	T	0.341	0.40973	B	0.058	0.39840	B	0.859622	0.08904	N	0.907724	1	0.81001	D	2.255	0.64187	M	0.64	0.55266	T	-1.32	0.32991	N	0.278	0.31478	-0.9944	0.31459	T	0.133	0.44564	T	10	0.09692907	0.17421	T	0.010956	0.28083	T	0.047	0.12962	0.247	0.18293	0.193917141947	0.19028	0.09674129676818885	0.09606	0.217102352539	0.24225	0.337239980698	0.16025	T	0.04938	0.28290	T	-0.217659	0.18314	T	-0.550429	0.17286	T	0.194440945982933	0.20103	T	0.529847	0.18203	T	0.070333496	0.15484	0.07259949	0.15682	0.070333496	0.15484	0.07259949	0.15682	-4.024	0.24162	T	.	.	0.077	0.11701	B	.;.;.	.;.;.	1.512683	0.19433	14.26	0.98442237862072457	0.41519	0.25982	0.22860	N	AEFDBI	.	.	.	-0.523785449776109	0.21312	1.130141	-0.592472872836828	0.19687	1.057461	0.999076915703893	0.38370	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	3.66	0.083	0.13741	-0.062000	0.11631	0.220000	0.16063	0.665000	0.62972	0.000000	0.06391	0.084000	0.22431	0.564000	0.30507	0.0:0.5695:0.0:0.4305	6.119	0.19362	482	0.77288	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1914.98	39	chr3	133380888	.	T	G	1914.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.279e+00;DP=922;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-1.400e+00;SOR=0.658	GT:AD:DP:GQ:PL	0/1:86,80:166:99:1929,0,2221	20	0	1	0
chr3	133755410	133755410	A	G	exonic	TF	.	nonsynonymous SNV	TF:NM_001354704:exon4:c.A169G:p.T57A	Atransferrinemia, Autosomal recessive	.	0	1517	5	0	0	5	0.00164528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.0	B	0.001	B	0.001	N	1.000	N	0.2	N	1.45	T	-1.069	T	0.033	T	0.262	-0.850	0.551	-5.24	-0.990	-0.414	2.133	0.021	0.00326488060213	0.0002	.	0.0001	0	0	0	0	0.0001	0.0011	0.0002	0.0001229	19	154602	rs139768770	0.0001	0.0001	0.0001	0.0001	0.0028	9.535e-05	9.016e-05	0.0017	0.0014	0.0001	6.708e-05	0	0	0	0.0028	8.813e-05	0.0003	0.0002	7.887e-05	7.876e-05	7.716e-05	8.065e-05	0.0001	4.498e-05	3.513e-05	6.808e-05	5.09e-05	2.409e-05	0	0	0	0	0	0.0068	0.0001	0	0	0.845	0.03421	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.001292	0.00765	N	2.689380	1	0.08975	N	0.085	0.08345	N	1.41	0.33412	T	-0.46	0.25986	N	0.077	0.05162	-1.0688	0.09679	T	0.033	0.14334	T	10	0.046634704	0.03879	T	0.003265	0.07207	T	0.021	0.04004	.	.	0.328222422547	0.32431	0.2771193050541101	0.27624	0.323898823088	0.34546	0.283423185349	0.07975	T	0.167887	0.51469	T	-0.482985	0.00711	T	-0.631227	0.10322	T	0.0234889401534138	0.01082	T	0.0833917	0.00613	T	0.09220246	0.21625	0.064453356	0.12920	0.09220246	0.21625	0.064453356	0.12919	-3.27	0.13353	T	0.14629473629009465	0.16864	0.059	0.03811	B	.;.	.;.	0.372419	0.07448	4.081	0.52412828812209722	0.04743	0.04875	0.10616	N	AEFDBHCI	0.586333	0.58441	D	-1.48264100118082	0.01972	0.08661279	-1.52597865567741	0.02146	0.09824755	0.999998960201071	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.96	-5.24	0.02576	-0.037000	0.12116	0.011000	0.13441	-0.208000	0.08445	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.3797:0.1283:0.3674:0.1246	2.133	0.03526	900	0.24599	Transferrin-like domain|Transferrin-like domain|Transferrin-like domain;Transferrin-like domain|Transferrin-like domain|Transferrin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1477.98	34	chr3	133755410	.	A	G	1477.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.020e-01;DP=1000;ExcessHet=0.0000;FS=0.578;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.80;ReadPosRankSum=-1.711e+00;SOR=0.763	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr3	133777188	133777188	G	A	exonic	TF	.	nonsynonymous SNV	TF:NM_001354704:exon15:c.G1631A:p.G544E	Atransferrinemia, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	27655	not_provided|not_specified|TF-related_disorder|Atransferrinemia|Transferrin_variant_B2	MedGen:C3661900|MedGen:CN169374|.|Human_Phenotype_Ontology:HP:0012239,MONDO:MONDO:0008846,MedGen:C0521802,OMIM:209300,Orphanet:1195|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	A	4.135	H	0.94	T	0.042	D	0.340	T	0.856	3.987	20.4	5.46	2.847	5.636	16.328	0.386	0.0907658880166	0.0037	0.00179712	0.0025	0.0014	0.0023	0	0.0008	0.0037	0.0011	0.0004	0.0028137	435	154602	rs121918677	0.0039	0.0040	0.0040	0.0039	0.0049	0.0039	0.0038	0.0047	0.0047	0.0007	0.0020	0.0006	2.519e-05	0.0008	0.0002	0.0049	0.0029	0.0003	0.0029	0.0029	0.0033	0.0026	0.0051	0.0027	0.0026	0.0046	0.0045	0.0010	0.0175	0.0018	0.0020	0	0.0009	0.0034	0.0051	0	0	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000005	0.62929	D	0.108637	0.999999	0.81001	A	4.45	0.98819	H	0.94	0.43672	T	-6.85	0.93097	D	0.625	0.63968	0.042	0.83080	D	0.340	0.70600	T	9	0.01994747	0.00452	T	0.090766	0.75580	D	0.386	0.70276	.	.	0.864093604746	0.86278	0.8328172867685449	0.83240	1.24056810101	0.81556	0.538030028343	0.44168	T	0.41875	0.77099	T	-0.117032	0.33611	T	0.0635406	0.74479	D	0.15387307904342	0.17408	T	0.946705	0.79569	D	0.94268596	0.95521	0.909482	0.95652	0.94758284	0.96020	0.9281765	0.96969	-9.534	0.71070	D	0.8508024073670438	0.91699	0.774	0.76107	P	.	.	5.125082	0.85741	28.7	0.99692900305673782	0.80044	0.95906	0.66665	D	AEFDBHCI	0.942817	0.94787	D	0.968827136500522	0.94703	12.969	0.858226409787106	0.93487	12.07555	0.999999999953318	0.74766	0.533608	0.22052	0	0.61073	0.52368	0	0.615948	0.41167	0	0.530356	0.10902	0	.	.	5.46	5.46	0.80021	5.209000	0.65041	11.831000	0.97525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.282000	0.24066	0.0:0.0:1.0:0.0	16.328	0.82826	875	0.30485	Transferrin-like domain|Transferrin-like domain|Transferrin-like domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	970.98	36	chr3	133777188	.	G	A	970.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=796;ExcessHet=0.0000;FS=0.735;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.07;ReadPosRankSum=-7.700e-02;SOR=0.609	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1293	20	0	1	0
chr3	133811164	133811164	G	C	exonic	SRPRB	.	nonsynonymous SNV	SRPRB:NM_001379313:exon4:c.G375C:p.R125S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.999	D	0.060	N	1.000	D	1.98	M	1.67	T	-0.981	T	0.142	T	0.992	3.877	19.70	2.24	0.505	0.421	7.683	0.365	0.0395363560954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	4.788e-06	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.059867	0.22291	N	0.419105	0.999998	0.58761	D	2.7	0.79018	M	1.67	0.27331	T	-5.99	0.89401	D	0.975	0.98563	-0.9814	0.34678	T	0.142	0.46386	T	10	0.9769599	0.97506	D	0.039536	0.58866	D	0.365	0.68495	0.885	0.97081	0.513448892127	0.50984	0.6556272041057072	0.65498	0.850424933985	0.68512	0.70716047287	0.68180	T	0.301519	0.67397	T	0.214912	0.75294	D	0.0709292	0.74972	D	0.98602956533432	0.76852	D	0.926607	0.72946	D	0.7467684	0.80681	0.6180993	0.77761	0.7467684	0.80682	0.6180993	0.77762	-14.899	0.95611	D	.	.	0.993	0.94496	P	.	.	4.289479	0.65400	24.8	0.99740139576912379	0.83409	0.92031	0.54792	D	AEFBI	0.540829	0.55723	D	0.357132536362098	0.59118	4.088559	0.289358020393427	0.54918	3.65547	0.877412702490473	0.25545	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	2.24	0.27264	0.441000	0.21325	2.252000	0.31695	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.999000	0.91618	0.2987:0.0:0.7013:0.0	7.683	0.27690	817	0.41665	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.08333	33.3	121	chr3	133811164	.	G	C	33.3	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-1.169e+00;DP=2243;ExcessHet=0.3300;FS=109.461;InbreedingCoeff=-0.1346;MLEAC=2;MLEAF=0.056;MQ=60.00;MQRankSum=0.00;QD=0.07;ReadPosRankSum=0.524;SOR=9.250	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:145,0:145:91:.:.:0,91,3003	15	0	3	3
chr3	133947398	133947398	T	C	exonic	SLCO2A1	.	nonsynonymous SNV	SLCO2A1:NM_005630:exon9:c.A1153G:p.I385V,	Hypertrophic osteoarthropathy, primary, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.515	P	0.214	B	0.000	D	0.999	D	0.485	N	0.34	T	-1.034	T	0.088	T	0.14	-0.133	3.349	5.58	2.116	1.120	12.297	0.103	0.0135174260585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.287e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06992	T	0.278	0.32022	B	0.214	0.37471	B	0.000082	0.51296	D	0.172856	0.998569	0.45092	D	1.025	0.25523	L	0.34	0.58176	T	-0.08	0.09297	N	0.286	0.32370	-1.0337	0.19268	T	0.088	0.33913	T	10	0.1741527	0.32279	T	0.013517	0.32986	T	0.103	0.29403	0.552	0.66856	0.456368778954	0.45261	0.17417772395812692	0.17336	0.180607798138	0.20310	0.483463734388	0.36534	T	0.058665	0.30903	T	-0.178178	0.24006	T	-0.493717	0.23001	T	0.238408386707306	0.22346	T	0.763624	0.39028	T	0.072592154	0.16160	0.090469114	0.21215	0.072592154	0.16159	0.090469114	0.21214	-2.945	0.09600	T	0.1471760560640755	0.17034	0.085	0.18122	B	.;.	.;.	1.737092	0.22105	15.48	0.72376456997053173	0.09952	0.69810	0.34336	D	AEFDBI	0.285429	0.39806	N	-0.239153582156905	0.31538	1.769466	-0.054687819197049	0.37289	2.181248	0.999827058612655	0.43622	0.740787	0.97801	0	0.59043	0.45803	0	0.658983	0.55881	0	0.673998	0.66042	0	.	.	5.58	5.58	0.84361	1.446000	0.34701	2.941000	0.35666	-0.715000	0.03906	0.917000	0.31872	0.999000	0.35428	0.795000	0.37519	0.0:0.0:0.1413:0.8587	12.297	0.54172	713	0.56348	Major facilitator superfamily domain|Major facilitator superfamily domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	41.22	34	chr3	133947398	.	T	C	41.22	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.838e+00;DP=1467;ExcessHet=0.3300;FS=122.093;InbreedingCoeff=-0.0725;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.17;ReadPosRankSum=0.287;SOR=10.352	GT:AD:DP:GQ:PL	0/0:74,12:86:63:0,63,1713	18	0	3	0
chr3	133955008	133955008	C	T	exonic	SLCO2A1	.	nonsynonymous SNV	SLCO2A1:NM_005630:exon4:c.G583A:p.V195M,	Hypertrophic osteoarthropathy, primary, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.995	D	0.000	D	1.000	D	1.225	L	1.09	T	-0.753	T	0.195	T	0.548	2.579	14.58	5.02	1.504	2.928	15.082	0.314	0.067379731123	.	.	4.123e-05	0	0	0	0.0008	0	0	0	3.23e-05	5	154602	rs758784301	6.157e-06	6.156e-06	9.529e-06	2.75e-06	.	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0001	0	0	3.312e-05	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	.	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0.0002	0	0	0	0	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.995	0.83170	D	0.000001	0.62929	D	0.056075	0.999998	0.81001	D	2.05	0.56469	M	1.09	0.39223	T	-1.98	0.45769	N	0.728	0.72925	-0.7528	0.57789	T	0.195	0.54913	T	10	0.71671367	0.73394	D	0.06738	0.70150	D	0.314	0.63588	0.761	0.88972	0.39619538035	0.39233	0.7821353079601289	0.78164	0.536128822372	0.50953	0.665987491608	0.62266	T	0.170067	0.51768	T	-0.0306994	0.47314	T	-0.281874	0.46612	T	0.495661199092865	0.32471	T	0.958204	0.84269	D	0.4868763	0.66316	0.48913142	0.70440	0.4868763	0.66317	0.48913142	0.70441	-8.348	0.63418	D	0.30333367949773443	0.40082	0.613	0.69407	P	.	.	4.583924	0.72443	25.8	0.99848218779777209	0.92750	0.81169	0.40630	D	AEFDBI	0.327265	0.42829	N	0.21072002682775	0.51717	3.350868	0.181642707625011	0.48843	3.094773	0.976521420220361	0.29733	0.651	0.46895	0	0.588015	0.36545	0	0.618467	0.43123	0	0.683762	0.67416	0	.	.	5.89	5.02	0.66742	2.842000	0.47931	6.007000	0.52582	0.599000	0.40250	0.991000	0.37257	1.000000	0.68203	0.991000	0.66497	0.0:0.9322:0.0:0.0678	15.082	0.71794	713	0.56348	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1177.98	35	chr3	133955008	.	C	T	1177.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.703;DP=777;ExcessHet=0.0000;FS=3.473;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.14;ReadPosRankSum=0.746;SOR=0.347	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1221	20	0	1	0
chr3	134029726	134029726	G	A	exonic	SLCO2A1	.	nonsynonymous SNV	SLCO2A1:NM_005630:exon1:c.C77T:p.S26L,	Hypertrophic osteoarthropathy, primary, autosomal recessive 2, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	720195	SLCO2A1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.15	T	0.994	D	0.553	P	1.000	U	1.000	N	0	N	1.06	T	-1.023	T	0.105	T	0.422	4.000	20.5	3.02	1.680	3.469	9.639	0.123	0.196217567825	0.0025	0.000399361	0.0042	0.0006	0.0028	0	0.0082	0.0067	0	0.0004	0.0018952	293	154602	rs201797879	0.0041	0.0040	0.0041	0.0040	0.0048	0.0040	0.0039	0.0047	0.0047	0.0005	0.0012	0.0001	0	0.0030	0.0013	0.0048	0.0040	0.0006	0.0027	0.0027	0.0028	0.0027	0.0051	0.0025	0.0024	0.0047	0.0045	0.0006	0.0011	0.0010	0	0	0.0017	0	0.0051	0.0014	0.0004	0.036	0.43393	D	0.016	0.60972	D	0.414	0.66517	B	0.062	0.49313	B	1.000000	0.07966	U	1.719030	0.999878	0.19925	N	0.55	0.14455	N	1.06	0.54149	T	-2.24	0.50175	N	0.317	0.43995	-1.0230	0.22736	T	0.105	0.38341	T	10	0.007827938	0.00178	T	0.196218	0.86466	D	0.123	0.34020	.	.	0.728633293707	0.72622	0.3192763800621531	0.31840	0.0953066022556	0.10761	0.711259007454	0.68776	T	0.205528	0.56461	T	-0.398498	0.02369	T	-0.340486	0.40289	T	0.0206827890633618	0.00768	T	0.832417	0.50060	T	0.094091475	0.22114	0.1427364	0.33947	0.074492924	0.16719	0.12384023	0.29856	-5.16	0.38533	T	0.2327777085538905	0.31507	0.187	0.40295	B	.;.	.;.	4.512297	0.70673	25.6	0.99717830681296304	0.81843	0.63582	0.32134	D	AEFDBCI	0.164066	0.29042	N	-0.310952779650803	0.28730	1.587168	-0.270338171797216	0.29081	1.62644	0.999670257315734	0.41644	0.65757	0.49021	0	0.563428	0.19063	0	0.606814	0.37721	0	0.604282	0.37693	0	.	.	3.02	3.02	0.33970	4.304000	0.58899	8.643000	0.77902	0.500000	0.22704	0.997000	0.40164	1.000000	0.68203	0.562000	0.30459	0.0:0.0:1.0:0.0	9.639	0.38993	883	0.28872	Major facilitator superfamily domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	433.98	35	chr3	134029726	.	G	A	433.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.322e+00;DP=749;ExcessHet=0.0000;FS=3.965;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.04;ReadPosRankSum=1.12;SOR=0.997	GT:AD:DP:GQ:PL	0/0:43,0:43:92:0,92,1101	20	0	1	0
chr3	134537191	134537191	C	T	exonic	CEP63	.	nonsynonymous SNV	CEP63:NM_001042383:exon6:c.C478T:p.R160C	.	.	.	.	.	.	.	.	.	.	.	3163537	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	1.0	D	1.0	D	0.000	D	1.000	D	2.135	M	1.94	T	-0.721	T	0.241	T	0.893	4.332	22.8	5.7	2.673	2.577	19.842	0.221	0.0216134560464	.	.	2.473e-05	0	0	0.0003	0	0	0	0	1.94e-05	3	154602	rs147553684	6.158e-06	6.841e-06	6.808e-06	5.501e-06	0.0002	2.9e-06	2.1e-06	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.498e-06	4.969e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.42	0.70002	M	1.94	0.37405	T	-5.39	0.87300	D	0.598	0.61764	-0.7207	0.59429	T	0.241	0.60941	T	10	0.4937149	0.61142	T	0.021613	0.44401	T	0.221	0.51721	0.299	0.26522	0.717097244813	0.71461	0.36918821376820865	0.36832	0.248968393867	0.27470	0.780515313148	0.79005	T	0.176956	0.69652	T	0.0357391	0.56484	T	0.105709	0.77287	D	0.85416179895401	0.50528	D	0.980402	0.95926	D	0.6686819	0.76362	0.5396241	0.73393	0.6686819	0.76363	0.5396241	0.73394	-8.742	0.67368	D	0.5245315512075456	0.59630	0.251	0.53959	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.526969	0.91835	32	0.99931911437267462	0.99439	0.87951	0.47673	D	AEFBI	0.576500	0.57847	D	0.693494983763843	0.79205	7.029021	0.677115797936079	0.80644	7.344972	0.999999982594055	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.7	5.7	0.88690	2.520000	0.45215	3.340000	0.37699	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.842	0.96691	921	0.19240	.;.;Centrosomal protein Cep63/Deup1, N-terminal;.;.;Centrosomal protein Cep63/Deup1, N-terminal;Centrosomal protein Cep63/Deup1, N-terminal;Centrosomal protein Cep63/Deup1, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	654.98	34	chr3	134537191	.	C	T	654.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.336e+00;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.73;ReadPosRankSum=-7.480e-01;SOR=0.706	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1180	20	0	1	0
chr3	134604015	134604015	C	T	exonic	KY	.	nonsynonymous SNV	KY:NM_001350859:exon10:c.G1502A:p.R501Q	Myopathy, myofibrillar, 7, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3455977	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.27	T	0.663	P	0.087	B	0.075	N	1.000	D	0.895	L	.	.	-1.023	T	0.097	T	0.101	2.080	12.91	5.63	2.659	2.379	13.903	0.046	0.00251291165416	0.0002	.	1.66e-05	0.0001	0	0	0	1.502e-05	0	0	1.29e-05	2	154602	rs372438078	3.284e-05	3.283e-05	3.812e-05	2.751e-05	5.974e-05	2.544e-05	2.249e-05	2.54e-05	2.224e-05	5.974e-05	4.472e-05	0	0	0	0	3.418e-05	4.969e-05	3.478e-05	5.256e-05	5.253e-05	2.569e-05	8.069e-05	0.0002	2.557e-05	1.83e-05	3.249e-05	1.915e-05	9.651e-05	0	0	0	0	0	0	2.94e-05	0.0005	0.0002	0.433	0.11882	T	0.243	0.24193	T	0.466	0.40973	P	0.029	0.29615	B	0.075271	0.21233	N	0.446636	1	0.81001	D	0.945	0.23706	L	.	.	.	-0.5	0.15782	N	0.131	0.15749	-1.0233	0.22638	T	0.097	0.36367	T	9	0.13053986	0.24844	T	0.002513	0.05009	T	0.046	0.12618	.	.	0.659689046486	0.65684	0.39230434107349016	0.39145	0.18743966345	0.21061	0.250509858131	0.03821	T	.	.	.	-0.347744	0.04870	T	-0.555758	0.16777	T	0.080533042550087	0.10055	T	0.824718	0.48674	T	.	.	.	.	.	.	.	.	-3.779	0.20491	T	.	.	0.079	0.07365	B	.;.	.;.	2.806027	0.36928	20.4	0.99682677611055959	0.79373	0.72274	0.35381	D	AEFBI	0.258350	0.37690	N	0.0541782496962781	0.44335	2.709451	0.199801988735559	0.49835	3.18221	0.998718572811228	0.37518	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	5.63	5.63	0.86108	2.434000	0.44460	2.250000	0.31680	0.599000	0.40250	0.944000	0.32806	0.031000	0.21272	0.870000	0.41412	0.0:0.9273:0.0:0.0727	13.903	0.63323	891	0.26808	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2097.98	81	chr3	134604015	.	C	T	2097.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.05;DP=1915;ExcessHet=0.0000;FS=5.180;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.43;ReadPosRankSum=0.310;SOR=0.936	GT:AD:DP:GQ:PL	0/0:102,0:102:99:0,120,1800	20	0	1	0
chr3	134647435	134647435	C	T	exonic	KY	.	nonsynonymous SNV	KY:NM_001350859:exon2:c.G199A:p.G67R	Myopathy, myofibrillar, 7, Autosomal recessive	.	423	1098	1	0	0	1	0.000455166	1.0000	0.998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	B	0.028	B	0.032	N	1.000	N	0	N	.	.	-0.972	T	0.117	T	0.133	1.744	11.79	5.85	2.767	3.761	15.658	0.046	0.0228634671289	.	.	5.744e-05	0	0	0	0	6.298e-05	0	0.0002	3.23e-05	5	154602	rs780340911	2.546e-05	2.531e-05	2.054e-05	3.042e-05	0.0002	1.878e-05	1.64e-05	0.0001	9.542e-05	0	0	0	0.0001	0	0.0002	1.266e-05	1.665e-05	0.0002	1.971e-05	1.97e-05	2.569e-05	1.345e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.039	0.49613	D	0.601	0.08870	T	0.188	0.29318	B	0.028	0.21332	B	0.031548	0.25152	N	0.376195	0.903405	0.36227	D	0	0.06538	N	.	.	.	0.43	0.04161	N	0.281	0.31814	-0.9718	0.36819	T	0.117	0.41209	T	8	0.16821852	0.31361	T	0.022863	0.45784	T	0.046	0.12618	0.435	0.48664	0.566443977814	0.56308	0.31659495308663005	0.31572	0.183051395071	0.20588	0.362455189228	0.19743	T	0.00621	0.05647	T	-0.358433	0.04219	T	-0.515972	0.20704	T	0.102305824485931	0.12609	T	0.808019	0.45805	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.03301	B	.;.	.;.	5.582386	0.92314	32	0.99283437557976051	0.58008	0.91346	0.53348	D	AEFBI	0.698083	0.65588	D	0.379058225370518	0.60288	4.216196	0.425789498433905	0.63175	4.546311	0.999385742501355	0.39415	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	5.85	5.85	0.93663	4.068000	0.57252	7.692000	0.65839	0.599000	0.40250	0.994000	0.38300	1.000000	0.68203	0.485000	0.28678	0.0:1.0:0.0:0.0	15.658	0.76910	922	0.19044	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	826.98	34	chr3	134647435	.	C	T	826.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.030e-01;DP=777;ExcessHet=0.0000;FS=1.968;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=-1.437e+00;SOR=0.431	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1047	20	0	1	0
chr3	136151262	136151262	C	T	exonic	MSL2	.	nonsynonymous SNV	MSL2:NM_001145417:exon2:c.G1397A:p.S466N	.	.	426	1087	8	1	0	10	0.00457875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.879	P	0.306	B	0.000	D	1.000	D	1.1	L	.	.	-0.864	T	0.125	T	0.189	2.319	13.71	5.92	2.809	5.094	19.303	0.091	.	0.0065	0.00279553	0.0055	0.0012	0.0010	0	0.0154	0.0072	0.0055	0.0033	0.0054786	847	154602	rs137871177	0.0077	0.0077	0.0078	0.0077	0.0086	0.0076	0.0075	0.0085	0.0084	0.0011	0.0015	0.0026	7.557e-05	0.0142	0.0023	0.0086	0.0065	0.0037	0.0063	0.0063	0.0066	0.0060	0.0090	0.0060	0.0059	0.0084	0.0082	0.0019	0.0406	0.0033	0.0012	0	0.0140	0	0.0090	0.0066	0.0033	0.022	0.48642	D	0.178	0.29639	T	0.879	0.48338	P	0.306	0.41250	B	0.000005	0.62929	D	0.140129	0.999787	0.49076	D	0	0.06538	N	.	.	.	-0.99	0.26200	N	0.281	0.31814	-0.8644	0.50944	T	0.125	0.43028	T	9	0.0052244663	0.00114	T	.	.	.	0.091	0.26358	.	.	0.168254554758	0.16434	0.6944731440453235	0.69388	0.45666871823	0.45319	0.831970691681	0.86864	D	0.026569	0.19633	T	-0.447555	0.01167	T	-0.407839	0.32475	T	0.0224987702871604	0.00965	T	0.605039	0.22725	T	0.1581806	0.35601	0.18659426	0.41841	0.1581806	0.35601	0.18659426	0.41840	-4.373	0.29188	T	.	.	0.243	0.49596	B	.;.	.;.	4.154492	0.62344	24.4	0.99015273023445427	0.50463	0.95387	0.64521	D	AEFGBI	0.534980	0.55380	D	0.409758714844747	0.61959	4.404224	0.518309631908159	0.69223	5.329768	0.999999998742545	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	5.178000	0.64875	7.727000	0.67598	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.303	0.94139	313	0.87327	.;.	.	.	.	.	rs137871177	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2583.98	33	chr3	136151262	.	C	T	2583.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.703e+00;DP=876;ExcessHet=0.0000;FS=0.556;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.44;ReadPosRankSum=-7.300e-01;SOR=0.774	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1284	20	0	1	0
chr3	136422543	136422543	G	A	exonic	STAG1	.	nonsynonymous SNV	STAG1:NM_005862:exon19:c.C1904T:p.A635V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.225	B	0.168	B	0.000	D	1.000	D	2.015	M	1.21	T	-0.969	T	0.131	T	0.781	4.995	29.3	5.49	2.592	9.869	19.442	0.304	0.0146574774674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.014	0.66756	D	0.225	0.30426	B	0.168	0.35187	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.995	0.54099	M	1.21	0.37230	T	-2.24	0.50175	N	0.628	0.65159	-0.9693	0.37345	T	0.131	0.44108	T	10	0.4628582	0.59391	T	0.014657	0.34921	T	0.304	0.62510	0.634	0.77032	0.311241185304	0.30733	0.5067826476042132	0.50600	0.970847484119	0.73358	0.862622082233	0.91497	D	0.100957	0.40726	T	0.126636	0.67031	D	-0.0558725	0.66620	D	0.950470268726349	0.63341	D	0.965953	0.88585	D	0.60286915	0.72845	0.37111586	0.62348	0.60286915	0.72846	0.37111586	0.62347	-5.786	0.44452	T	.	.	0.272	0.55508	B	.;.;.	.;.;.	4.385858	0.67640	25.1	0.9991144502044691	0.98095	0.99083	0.90974	D	AEFBI	0.873358	0.79567	D	0.385558471933788	0.60639	4.255037	0.523958598013349	0.69607	5.384463	0.999999979250268	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.49	5.49	0.81022	10.003000	0.99689	11.845000	0.97913	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.442	0.94816	416	0.81733	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1355.98	34	chr3	136422543	.	G	A	1355.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.170;DP=803;ExcessHet=0.0000;FS=0.697;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=0.226;SOR=0.574	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1127	20	0	1	0
chr3	136855578	136855578	A	G	exonic	SLC35G2	.	nonsynonymous SNV	SLC35G2:NM_001097599:exon2:c.A1118G:p.Y373C	.	.	419	1087	14	2	0	18	0.00821168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.941	P	0.814	P	0.000	D	1.000	D	1.79	L	0.65	T	-0.776	T	0.209	T	0.929	1.464	10.84	4.75	1.033	5.899	11.600	0.261	.	0.0016	0.00299521	0.0024	0.0002	0.0014	0	0.0002	0.0016	0.0033	0.0096	0.0021798	337	154602	rs140456008	0.0015	0.0015	0.0013	0.0018	0.0098	0.0015	0.0015	0.0092	0.0090	0.0002	0.0013	0.0036	2.519e-05	0.0001	0.0040	0.0010	0.0017	0.0098	0.0013	0.0013	0.0013	0.0014	0.0089	0.0012	0.0011	0.0068	0.0061	0.0001	0	0.0022	0.0035	0.0004	0.0004	0.0034	0.0015	0.0009	0.0089	0.109	0.29288	T	0.176	0.29843	T	0.941	0.52883	P	0.814	0.58796	P	0.000113	0.50451	D	0.138683	1	0.81001	D	1.25	0.31749	L	0.65	0.52642	T	-1.83	0.42957	N	0.311	0.35194	-0.7761	0.56520	T	0.209	0.56879	T	10	0.008176893	0.00185	T	.	.	.	0.261	0.57352	.	.	0.41337360676	0.40951	0.8087693011032003	0.80831	0.168846747841	0.19038	0.659198641777	0.61294	T	0.142953	0.47881	T	-0.0766298	0.40262	T	0.124257	0.78516	D	0.0505479880015484	0.05596	T	0.892511	0.62902	D	0.093904436	0.22065	0.10239552	0.24541	0.093904436	0.22065	0.10239552	0.24541	-6.292	0.48658	T	.	.	0.074	0.05979	B	.;.	.;.	2.998979	0.40067	21.1	0.95649811999670209	0.27461	0.96100	0.67533	D	AEFDBI	0.800336	0.72635	D	0.508805458413673	0.67608	5.104481	0.515525171385735	0.69034	5.303036	0.999997934410551	0.74766	0.732398	0.92422	0	0.601575	0.49859	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.93	4.75	0.59954	5.888000	0.69501	8.069000	0.76432	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.8666:0.0:0.0:0.1334	11.600	0.50254	713	0.56348	EamA domain;EamA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2818.98	123	chr3	136855578	.	A	G	2818.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.272;DP=2319;ExcessHet=0.0000;FS=2.258;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=-1.671e+00;SOR=0.858	GT:AD:DP:GQ:PL	0/0:85,0:85:99:0,120,1800	20	0	1	0
chr3	138023699	138023699	G	A	exonic	CLDN18	.	nonsynonymous SNV	CLDN18:NM_001002026:exon2:c.G262A:p.V88I	.	.	419	1083	20	0	0	20	0.00914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.998	D	0.907	P	0.000	D	1.000	D	0.795	N	-2.12	D	-0.031	T	0.553	D	0.483	2.952	15.84	5.6	2.644	5.487	19.620	0.371	0.0238044773396	0.0017	0.00279553	0.0023	0.0003	0.0022	0	0.0002	0.0025	0.0033	0.0050	0.0021927	339	154602	rs114998965	0.0022	0.0022	0.0020	0.0024	0.0111	0.0021	0.0021	0.0089	0.0081	0.0006	0.0017	3.826e-05	0	0.0002	0.0111	0.0021	0.0023	0.0065	0.0018	0.0018	0.0018	0.0019	0.0060	0.0016	0.0016	0.0043	0.0037	0.0004	0	0.0044	0	0	9.422e-05	0.0068	0.0022	0.0052	0.0060	0.186	0.22224	T	0.728	0.05203	T	0.998	0.73220	D	0.907	0.64423	P	0.000048	0.53742	D	0.072088	0.999845	0.49770	D	1.165	0.29723	L	-2.12	0.86283	D	0.24	0.04533	N	0.349	0.40665	-0.0308	0.81613	T	0.553	0.83640	D	10	0.014335632	0.00302	T	0.023804	0.46785	T	0.371	0.69016	.	.	0.795177276677	0.79327	0.5745959723084327	0.57388	0.684914073292	0.60249	0.72128111124	0.70234	T	0.162044	0.50655	T	-0.255887	0.13385	T	-0.138559	0.60244	T	0.0182757972591564	0.00546	T	0.866613	0.56692	D	0.18001181	0.39101	0.2198649	0.46741	0.18001181	0.39100	0.2198649	0.46740	-3.312	0.13893	T	.	.	0.103	0.19559	B	.;.	.;.	4.180481	0.62926	24.5	0.9973037581348364	0.82690	0.94983	0.63014	D	AEFDGBCI	0.463214	0.51222	N	0.435514676815602	0.63387	4.571382	0.472779387171074	0.66192	4.920189	0.999999999557706	0.74766	0.553676	0.25195	0	0.232529	0.04832	2	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.6	5.6	0.84997	5.621000	0.67420	4.759000	0.44704	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.899000	0.43558	0.0:0.0:1.0:0.0	19.620	0.95647	495	0.76383	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1472.98	34	chr3	138023699	.	G	A	1472.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.94;DP=829;ExcessHet=0.0000;FS=1.513;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=1.71;SOR=0.554	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1419	20	0	1	0
chr3	138084237	138084237	T	C	exonic	DZIP1L	.	nonsynonymous SNV	DZIP1L:NM_173543:exon8:c.A1079G:p.Q360R	.	.	.	.	.	.	.	.	.	.	.	733826	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.097	B	0.023	B	0.260	N	1.000	N	0	N	1.0	T	-1.046	T	0.036	T	0.055	0.792	8.170	2.01	0.102	1.756	6.165	0.029	0.011472724657	0.0003	0.00179712	0.0008	0.0002	0.0066	0	0	3.009e-05	0.0011	0.0012	0.0008279	128	154602	rs148073431	0.0003	0.0003	0.0003	0.0003	0.0057	0.0002	0.0002	0.0052	0.0049	0.0002	0.0057	0	2.519e-05	0	0.0002	1.079e-05	0.0003	0.0011	0.0007	0.0007	0.0006	0.0008	0.0054	0.0006	0.0005	0.0044	0.0041	0.0002	0	0.0054	0	0.0010	0	0	8.819e-05	0	0.0004	0.002	0.72154	D	0.16	0.74150	T	0.097	0.25541	B	0.016	0.19966	B	0.260495	0.15325	N	0.639528	1	0.08975	N	0	0.06538	N	1.0	0.41392	T	-1.55	0.38151	N	0.17	0.18103	-1.0459	0.15563	T	0.036	0.15422	T	10	0.004087031	0.00080	T	0.011473	0.29127	T	0.029	0.06676	.	.	0.0666544352282	0.05500	0.014507853662267528	0.01407	0.0847022139416	0.09572	0.286505460739	0.08416	T	0.020301	0.16009	T	-0.596845	0.00152	T	-0.627769	0.10584	T	0.0219184689871532	0.00900	T	0.731327	0.34859	T	0.120817825	0.28422	0.11329842	0.27342	0.11420692	0.26965	0.1386463	0.33104	-2.554	0.06161	T	.	.	0.070	0.03336	B	.;.	.;.	2.893261	0.38328	20.7	0.9433706316981304	0.24675	0.71187	0.34906	D	AEFBI	0.059732	0.11303	N	-0.676598126989997	0.16690	0.8525361	-0.60049394399175	0.19480	1.04535	0.999754776635191	0.42595	0.651	0.46895	0	0.563428	0.19063	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.81	2.01	0.25568	1.956000	0.40007	2.524000	0.33135	0.665000	0.62972	0.982000	0.35529	0.283000	0.24120	0.927000	0.46353	0.0:0.081:0.3116:0.6074	6.165	0.19604	574	0.70151	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	823.98	40	chr3	138084237	.	T	C	823.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.489e+00;DP=766;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=-7.410e-01;SOR=0.708	GT:AD:DP:GQ:PL	0/1:27,37:64:99:838,0,693	20	0	1	0
chr3	138301683	138301683	G	A	exonic	NME9	.	nonsynonymous SNV	NME9:NM_001349020:exon9:c.C761T:p.A254V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.002	B	0.001	B	0.169	N	1.000	N	.	.	1.07	T	-1.029	T	0.043	T	0.067	0.774	8.088	-5.68	-1.718	-2.723	5.503	0.002	0.00294028734583	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs746163857	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0	0	0	0	0	0	0.0002	5.181e-05	2.524e-05	1.972e-05	1.97e-05	2.57e-05	1.345e-05	2.941e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.941e-05	0	0	0.3	0.14497	T	1.0	0.01155	T	0.002	0.09854	B	0.001	0.04355	B	0.169100	0.03097	N	1.759760	1	0.08975	N	-0.345	0.03330	N	1.07	0.39586	T	0.95	0.01509	N	0.092	0.07125	-1.0294	0.20649	T	0.043	0.18535	T	9	0.042090833	0.02926	T	0.00294	0.06250	T	0.002	0.00045	0.265	0.21103	0.0482279557977	0.04254	0.16696378132555736	0.16616	.	.	.	.	.	0.00219	0.01594	T	-0.508272	0.00513	T	-0.795416	0.02020	T	0.0510511072006611	0.05684	T	0.447055	0.12542	T	0.022347074	0.00891	0.035006262	0.02670	0.022347074	0.00890	0.035006262	0.02670	-4.602	0.32197	T	.	.	0.074	0.05017	B	.	.	-1.015106	0.00750	0.023	0.78020817689089572	0.12121	0.00321	0.01686	N	AEFI	0.036567	0.04893	N	-1.79661899566071	0.00553	0.02383157	-1.90498473980395	0.00479	0.02120179	0.940991862411001	0.27457	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.03	-5.68	0.02240	-2.733000	0.00874	-3.284000	0.02907	-0.118000	0.14412	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3643:0.0:0.4097:0.226	5.503	0.16131	434	0.80536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1621.98	33	chr3	138301683	.	G	A	1621.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=795;ExcessHet=0.0000;FS=3.676;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.30;ReadPosRankSum=-1.126e+00;SOR=0.694	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1424	20	0	1	0
chr3	138474353	138474353	G	T	splicing	ESYT3	NM_001322834:exon20:c.2468+1G>T;NM_001322831:exon20:c.2468+1G>T;NM_031913:exon20:c.2468+1G>T	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.241	22.1	4.98	2.579	8.525	15.788	.	.	.	.	8.594e-06	0	8.666e-05	0	0	0	0	0	1.29e-05	2	154602	rs201503175	2.02e-05	1.984e-05	1.247e-05	2.803e-05	0.0021	1.417e-05	1.225e-05	0.0012	0.0010	0	5.418e-05	4.1e-05	0	0	0.0021	1.177e-05	1.692e-05	0	6.57e-06	6.566e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.306212	0.83458	D	0.389887	0.91775	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.941619	0.94132	33	0.995599547332089	0.71707	0.98585	0.84383	D	AEFDBIJ	.	.	.	1.18893261641864	0.99442	22.75722	1.02981241683123	0.99124	20.793	0.999999999984642	0.74766	0.078448	0.01964	0	0.059962	0.00310	0	0.083675	0.02720	0	0.062806	0.01542	0	0.987779	0.96337	4.98	4.98	0.65679	8.943000	0.92528	11.545000	0.93151	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.0:1.0:0.0	15.788	0.78097	355	0.85216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2144.98	38	chr3	138474353	.	G	T	2144.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=1016;ExcessHet=0.0000;FS=4.723;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.41;ReadPosRankSum=1.68;SOR=0.425	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr3	138495055	138495055	A	G	exonic	CEP70	.	nonsynonymous SNV	CEP70:NM_001288967:exon14:c.T1298C:p.I433T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.982	D	0.821	P	0.000	D	1.000	D	2.095	M	0.9	T	-0.473	T	0.270	T	0.816	3.237	16.85	3.77	1.006	4.862	7.378	0.354	0.0587594150774	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1435476654	1.991e-05	2.807e-05	1.563e-05	2.42e-05	3.116e-05	1.381e-05	1.189e-05	1.268e-05	1.076e-05	3.116e-05	0	0	2.538e-05	5.652e-05	0	1.974e-05	1.708e-05	1.191e-05	1.314e-05	1.313e-05	2.569e-05	0	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	9.411e-05	0	0	0	0	0.002	0.72154	D	0.005	0.74150	D	0.982	0.60036	D	0.821	0.59116	P	0.000052	0.53742	D	0.073583	0.913458	0.36473	D	1.845	0.48678	L	0.88	0.58468	T	-2.7	0.61722	D	0.853	0.88027	-0.4726	0.69634	T	0.270	0.64141	T	10	0.73471093	0.74540	D	0.058759	0.67431	D	0.354	0.67510	0.491	0.57732	0.801582363574	0.79972	0.6971864922787324	0.69659	0.33083165783	0.35164	0.665916740894	0.62256	T	0.299223	0.67176	T	0.150058	0.69274	D	-0.0222287	0.68882	D	0.875778377056122	0.52565	D	0.839216	0.51320	T	0.34439278	0.56626	0.34236175	0.59963	0.34439278	0.56626	0.34236175	0.59962	-7.504	0.57638	D	.	.	0.734	0.75762	P	.;.;.;.	.;.;.;.	4.608571	0.73068	25.9	0.99844497586487435	0.92489	0.92940	0.56923	D	AEFBI	0.522609	0.54655	D	0.49961552342615	0.67067	5.032607	0.458941105923913	0.65295	4.805535	0.999674814648336	0.41644	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.93	3.77	0.42499	4.900000	0.62939	9.055000	0.78649	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.9022:0.0:0.0978:0.0	7.378	0.26012	382	0.83637	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1061.98	36	chr3	138495055	.	A	G	1061.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.841;DP=829;ExcessHet=0.0000;FS=1.665;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.06;ReadPosRankSum=-1.345e+00;SOR=0.917	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr3	139527326	139527326	C	T	exonic	RBP1	.	nonsynonymous SNV	RBP1:NM_001130992:exon3:c.G455A:p.R152H,	.	.	451	1069	0	2	0	4	0.00186741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.987	D	0.202	B	.	.	1.000	N	0	N	2.33	T	-0.998	T	0.008	T	0.061	0.274	5.483	-0.59	-0.364	-1.250	.	0.063	.	.	0.00379393	0	0	.	0	.	0	.	0	0.001191	31	26028	rs150559313	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0026	0.0026	0.0025	0.0027	0.0075	0.0024	0.0023	0.0068	0.0066	0.0075	0	0.0041	0	0	0	0.0034	0.0002	0.0043	0.0002	0.037	0.43085	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.33	0.16492	T	0.6	0.02518	N	0.05	0.02179	-0.9980	0.30479	T	0.008	0.02679	T	8	0.004828453	0.00103	T	.	.	.	0.063	0.18251	.	.	0.270889551736	0.26708	.	.	.	.	.	.	.	.	.	.	-0.731113	0.00023	T	-0.819244	0.01468	T	0.129788410471853	0.15363	T	0.419058	0.11093	T	.	.	.	.	.	.	.	.	-4.146	0.25966	T	.	.	0.115	0.22897	B	.	.	-0.164711	0.03276	0.560	0.90745678347320557	0.19995	0.00201	0.01154	N	AEFBI	0.039301	0.05688	N	-1.0777630857632	0.07055	0.3265894	-1.27954728735126	0.04707	0.2226854	0.786164548938878	0.23933	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.427	-0.59	0.11093	-1.412000	0.02582	0.000000	0.13247	-0.575000	0.04770	0.000000	0.06391	0.005000	0.19230	0.003000	0.05239	.	.	.	912	0.21483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	325.37	20	chr3	139527326	.	C	T	325.37	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-7.340e-01;DP=416;ExcessHet=0.0000;FS=1.657;InbreedingCoeff=-0.0276;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=12.51;ReadPosRankSum=0.643;SOR=0.368	GT:AD:DP:GQ:PL	0/0:30,0:30:48:0,48,880	19	0	1	1
chr3	140448648	140448648	T	A	exonic	CLSTN2	.	nonsynonymous SNV	CLSTN2:NM_022131:exon6:c.T917A:p.I306N,	.	.	425	1091	6	0	0	6	0.00274223	.	.	697859	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.896	P	0.000	D	1.000	D	2.985	M	0.72	T	-0.362	T	0.248	T	0.78	4.419	23.5	5.2	1.965	7.997	13.034	0.493	0.0978105766652	0.0048	0.00239617	0.0033	0.0016	0.0015	0	0.0014	0.0047	0.0022	0.0024	0.0034282	530	154602	rs41265459	0.0054	0.0054	0.0055	0.0053	0.0063	0.0053	0.0053	0.0062	0.0062	0.0010	0.0014	0.0081	0	0.0016	0.0040	0.0063	0.0039	0.0022	0.0036	0.0036	0.0039	0.0033	0.0057	0.0033	0.0032	0.0052	0.0050	0.0014	0.0033	0.0024	0.0109	0	0.0009	0	0.0057	0.0043	0.0015	0.0	0.91255	D	0.001	0.83351	D	0.998	0.73220	D	0.896	0.63555	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.74	0.80084	M	0.72	0.50976	T	-5.71	0.87457	D	0.914	0.91621	-0.3619	0.73207	T	0.248	0.61751	T	10	0.033489287	0.01527	T	0.097811	0.76836	D	0.493	0.77910	.	.	0.895227171874	0.89419	0.7803292918744039	0.77983	0.966996163592	0.73223	0.712702155113	0.68984	T	0.696357	0.91217	D	-0.172031	0.24929	T	-0.0165804	0.69254	D	0.0299720670178695	0.01985	T	0.979902	0.93196	D	0.8626946	0.88291	0.75548524	0.85550	0.8626946	0.88292	0.75548524	0.85550	-13.688	0.91999	D	.	.	0.726	0.74038	P	.	.	5.029218	0.83633	28.1	0.99418079785669466	0.63645	0.98108	0.79665	D	AEFBI	0.932384	0.92266	D	0.796845758482005	0.85907	8.718929	0.737815365233439	0.85245	8.523132	0.999999984462586	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.2	5.2	0.71720	8.017000	0.88732	7.846000	0.70742	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.921000	0.45669	0.0:0.0:0.0:1.0	13.034	0.58269	829	0.39537	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	788.98	33	chr3	140448648	.	T	A	788.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.633;DP=783;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.62;ReadPosRankSum=1.48;SOR=0.734	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1202	20	0	1	0
chr3	140678379	140678379	C	G	exonic	TRIM42	.	nonsynonymous SNV	TRIM42:NM_152616:exon1:c.C150G:p.C50W,	.	.	423	1092	7	0	0	7	0.00319489	.	.	2336128	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.999	D	0.887	P	0.101	N	1.000	D	0	N	1.04	T	-1.041	T	0.097	T	0.687	2.858	15.52	3.76	0.710	1.442	8.257	0.234	0.0157483482268	0.0005	.	0.0006	0	0.0007	0	0	0.0008	0.0011	0.0003	0.0004657	72	154602	rs141361028	0.0005	0.0005	0.0005	0.0005	0.0064	0.0004	0.0004	0.0048	0.0042	0.0001	0.0009	0.0046	0	0	0.0064	0.0004	0.0010	0.0004	0.0008	0.0008	0.0007	0.0009	0.0029	0.0007	0.0006	0.0022	0.0020	0.0002	0	0.0029	0.0043	0	0	0.0068	0.0007	0.0009	0.0002	0.069	0.35537	T	0.222	0.25748	T	0.999	0.77913	D	0.887	0.62952	P	0.101498	0.19837	N	0.511513	0.999946	0.51968	D	1.04	0.26193	L	1.04	0.40218	T	-1.85	0.43334	N	0.785	0.78167	-1.0414	0.16890	T	0.097	0.36315	T	10	0.08149922	0.13349	T	0.015748	0.36654	T	0.234	0.53644	.	.	0.502878934189	0.49925	0.8091116214778893	0.80866	0.961546008612	0.73030	0.723027408123	0.70487	T	0.005089	0.04527	T	-0.300767	0.08588	T	-0.268186	0.48002	T	0.0547075814622254	0.06308	T	0.679332	0.28809	T	0.19993033	0.41950	0.16060242	0.37398	0.19993033	0.41950	0.16060242	0.37397	-6.701	0.51818	T	.	.	0.927	0.84804	P	.	.	3.700671	0.52779	23.3	0.99298717592739283	0.58541	0.80023	0.39774	D	AEFI	0.499204	0.53299	N	0.172065467400196	0.49862	3.181898	0.213339131662549	0.50586	3.249167	1.32045791463176E-4	0.05486	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.53	3.76	0.42368	1.477000	0.35039	0.821000	0.21853	-0.182000	0.10109	1.000000	0.71638	0.999000	0.35428	0.927000	0.46353	0.0:0.8191:0.0:0.1809	8.257	0.30923	564	0.70960	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3894.98	36	chr3	140678379	.	C	G	3894.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.050;DP=1014;ExcessHet=0.0000;FS=6.195;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.29;ReadPosRankSum=-9.720e-01;SOR=1.034	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1327	20	0	1	0
chr3	141445053	141445053	C	T	exonic	ZBTB38	.	nonsynonymous SNV	ZBTB38:NM_001376164:exon3:c.C2665T:p.L889F	.	.	421	1095	6	0	0	6	0.00273224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	B	0.034	B	0.312	N	1.000	N	1.5	L	2.99	T	-1.010	T	0.018	T	0.308	0.161	4.868	1.58	1.332	-0.023	1.959	0.037	0.00958863474124	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1395462877	5.472e-06	5.472e-06	2.722e-06	8.25e-06	2.236e-05	2.35e-06	1.7e-06	8.4e-07	5.7e-07	0	2.236e-05	0	0	0	0	3.597e-06	4.967e-05	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.641	0.04987	T	0.173	0.30143	T	0.257	0.31412	B	0.034	0.22546	B	0.312074	0.14416	N	0.667655	1	0.08975	N	2.25	0.63811	M	2.99	0.09262	T	0.18	0.05035	N	0.111	0.10911	-1.0098	0.26981	T	0.018	0.07565	T	9	0.049340725	0.04509	T	0.009589	0.25085	T	0.037	0.09474	0.37	0.38013	0.409069985131	0.40521	0.2582712482310762	0.25741	0.449858098868	0.44764	0.274273306131	0.06705	T	0.016363	0.13540	T	-0.285449	0.10098	T	-0.564939	0.15916	T	0.0668242584099924	0.08197	T	0.574643	0.20620	T	0.028731646	0.02255	0.032535486	0.02003	0.028731646	0.02255	0.032535486	0.02003	-4.948	0.36270	T	.	.	0.099	0.16626	B	.;.;.;.	.;.;.;.	0.921494	0.12966	9.471	0.9630937340664607	0.29377	0.17929	0.20047	N	AEFDBIJ	0.120527	0.23475	N	-0.625280639648341	0.18188	0.9422322	-0.657433068924809	0.18029	0.961336	0.999955914185527	0.48110	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.54	1.58	0.22557	-0.014000	0.12594	1.726000	0.28294	0.599000	0.40250	0.000000	0.06391	0.906000	0.28050	0.320000	0.24970	0.4803:0.2435:0.157:0.1192	1.959	0.03178	821	0.40814	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3057.98	35	chr3	141445053	.	C	T	3057.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.864;DP=961;ExcessHet=0.0000;FS=0.945;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=1.20;SOR=0.759	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1243	20	0	1	0
chr3	142493223	142493223	A	G	exonic	ATR	.	nonsynonymous SNV	ATR:NM_001354579:exon34:c.T5795C:p.M1932T	Seckel syndrome 1, Autosomal recessive	.	2	1490	29	1	0	31	0.0102956	.	.	293044	Familial_cutaneous_telangiectasia_and_oropharyngeal_predisposition_cancer_syndrome|Seckel_syndrome_1|not_provided	MONDO:MONDO:0013806,MedGen:C3281203,OMIM:614564,Orphanet:313846|MONDO:MONDO:0008869,MedGen:C4551474,OMIM:210600,Orphanet:808|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.7	T	0.004	B	0.021	B	0.027	N	0.506	D	0.345	N	-0.17	T	-1.007	T	0.093	T	0.123	0.503	6.728	1.09	0.345	1.648	5.932	0.046	.	0.0005	0.00239617	0.0023	0	0.0005	0	0.0002	0.0013	0.0011	0.0112	0.0020828	322	154602	rs150339560	0.0014	0.0014	0.0011	0.0017	0.0105	0.0013	0.0013	0.0100	0.0097	0.0002	0.0006	7.655e-05	2.521e-05	0.0003	0.0069	0.0009	0.0014	0.0105	0.0010	0.0010	0.0011	0.0010	0.0081	0.0009	0.0008	0.0061	0.0054	0.0001	0	0.0005	0	0	0.0003	0.0068	0.0014	0.0009	0.0081	0.522	0.07211	T	0.673	0.06245	T	0.004	0.12183	B	0.021	0.19346	B	0.026712	0.25874	N	0.453074	0.506061	0.31781	D	0.345	0.11182	N	-0.17	0.65563	T	-0.34	0.12661	N	0.156	0.16168	-1.0067	0.27943	T	0.093	0.35390	T	10	0.0055253804	0.00122	T	.	.	.	0.046	0.12618	.	.	0.573967493499	0.57064	0.16067797887374585	0.15988	0.72376401681	0.62348	0.415606826544	0.27231	T	0.043643	0.26566	T	-0.482922	0.00711	T	-0.457065	0.26919	T	0.0114550716298242	0.00172	T	0.772623	0.40374	T	0.036460824	0.04490	0.045311764	0.06070	0.036460824	0.04490	0.045311764	0.06069	-2.316	0.04644	T	.	.	0.066	0.02228	B	.	.	1.776277	0.22588	15.68	0.77247482962935432	0.11797	0.94128	0.60197	D	AEFGBI	0.271006	0.38695	N	-0.549658756175477	0.20494	1.080785	-0.371449425263281	0.25852	1.424278	0.352174036091183	0.19694	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.5	1.09	0.19517	1.857000	0.39038	3.644000	0.39356	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.5014:0.0:0.0847:0.4138	5.932	0.18380	379	0.83778	PIK-related kinase, FAT|PIK-related kinase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1884.98	34	chr3	142493223	.	A	G	1884.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.150e-01;DP=864;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=7.000e-03;SOR=0.714	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1450	20	0	1	0
chr3	142512361	142512361	A	G	exonic	ATR	.	nonsynonymous SNV	ATR:NM_001354579:exon26:c.T4559C:p.M1520T	Seckel syndrome 1, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	3386121	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.39	T	0.049	B	0.024	B	0.000	D	1.000	D	1.95	M	2.04	T	-1.102	T	0.058	T	0.797	3.101	16.36	5.24	1.984	9.228	15.149	0.250	0.0221766420099	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1170027837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.574e-06	6.567e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.096	0.31088	T	0.02	0.58613	D	0.049	0.22227	B	0.024	0.20255	B	0.000000	0.84330	D	0.038763	1	0.81001	D	1.85	0.49092	L	2.04	0.20808	T	-2.79	0.59059	D	0.86	0.85660	-1.1018	0.03880	T	0.058	0.24317	T	10	0.7230263	0.73789	D	0.022177	0.45042	T	0.250	0.55888	0.606	0.73825	0.750970900688	0.74872	0.6499890120916018	0.64934	0.950379308058	0.72598	0.786912500858	0.79972	T	0.427948	0.77725	T	0.0778523	0.61789	D	-0.125947	0.61310	T	0.9235919713974	0.58433	D	0.861114	0.55479	D	0.5651057	0.70791	0.38472828	0.63406	0.5651057	0.70792	0.38472828	0.63406	-5.678	0.43497	T	.	.	0.527	0.65802	A	.	.	3.691622	0.52601	23.3	0.98146958940082862	0.38655	0.99615	0.98010	D	AEFBI	0.849461	0.76627	D	0.109093825817655	0.46887	2.92227	0.271030057021448	0.53856	3.552509	0.999999632738063	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	8.985000	0.93048	11.090000	0.85912	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.149	0.72364	379	0.83778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1093.98	46	chr3	142512361	.	A	G	1093.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.028;DP=920;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.77;ReadPosRankSum=1.08;SOR=0.633	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1228	20	0	1	0
chr3	142560393	142560393	C	G	exonic	ATR	.	nonsynonymous SNV	ATR:NM_001184:exon6:c.G1411C:p.E471Q,	Seckel syndrome 1, Autosomal recessive	.	6	1492	23	1	0	25	0.00830841	.	.	781576	Malignant_tumor_of_breast|ATR-related_disorder|Seckel_syndrome_1|not_provided	MONDO:MONDO:0007254,MedGen:C0006142|.|MONDO:MONDO:0008869,MedGen:C4551474,OMIM:210600,Orphanet:808|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.966	D	0.462	P	0.001	D	1.000	D	0.895	L	3.89	T	-0.948	T	0.013	T	0.222	3.676	18.68	5.71	2.694	2.705	14.666	0.069	0.00418965340868	0.0002	0.000399361	0.0003	9.615e-05	0.0002	0.0001	0	0.0002	0	0.0016	0.0002911	45	154602	rs371350410	0.0002	0.0002	0.0002	0.0003	0.0047	0.0002	0.0002	0.0033	0.0028	0	0.0001	3.828e-05	0	0	0.0047	7.555e-05	0.0003	0.0019	0.0002	0.0002	0.0001	0.0002	0.0021	0.0001	0.0001	0.0011	0.0009	4.815e-05	0	0.0003	0	0	0	0	0.0001	0.0009	0.0021	0.04	0.42199	D	0.252	0.23570	T	0.966	0.56202	D	0.462	0.46509	P	0.000542	0.43413	D	0.194598	0.890296	0.81001	D	1.935	0.51832	L	3.89	0.03544	T	-0.4	0.13805	N	0.248	0.28028	-0.9477	0.41364	T	0.013	0.05321	T	10	0.020540774	0.00475	T	0.00419	0.10089	T	0.069	0.20116	.	.	0.481513848221	0.47781	0.1754174062515484	0.17460	0.258986536561	0.28452	0.32993337512	0.14924	T	0.067634	0.33252	T	-0.508172	0.00514	T	-0.509515	0.21366	T	0.0289342957624609	0.01827	T	0.781822	0.41691	T	0.17641845	0.38553	0.060204253	0.11427	0.1776186	0.38737	0.08973996	0.21003	-4.032	0.24281	T	.	.	0.103	0.18580	B	.	.	3.916840	0.57157	23.8	0.99569225907474168	0.72258	0.93136	0.57420	D	AEFBI	0.388594	0.46814	N	0.399765759058681	0.61409	4.341674	0.483359412086924	0.66890	5.01099	0.997645339739618	0.35855	0.732398	0.92422	0	0.653731	0.59785	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.71	5.71	0.89031	3.349000	0.51931	7.704000	0.66446	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1453:0.8547:0.0:0.0	14.666	0.68517	636	0.64483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1469.98	34	chr3	142560393	.	C	G	1469.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.010e-01;DP=822;ExcessHet=0.0000;FS=4.390;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=-4.690e-01;SOR=1.099	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1131	20	0	1	0
chr3	142838869	142838869	C	T	exonic	PCOLCE2	.	nonsynonymous SNV	PCOLCE2:NM_013363:exon5:c.G611A:p.R204Q,	.	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.136	B	0.038	B	0.000	D	1.000	D	0.745	N	2.24	T	-1.067	T	0.029	T	0.286	2.992	15.98	4.71	2.726	5.759	15.691	0.059	0.00839284958611	7.7e-05	.	0.0001	0	0.0003	0.0001	0	0.0001	0	0.0002	0.0001035	16	154602	rs149199107	0.0001	0.0001	9.673e-05	0.0001	0.0017	0.0001	9.422e-05	0.0009	0.0007	8.967e-05	0.0003	0	0	0	0.0017	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	8.163e-05	6.72e-05	7.909e-05	5.994e-05	4.812e-05	0	0.0002	0	0	0	0.0068	0.0001	0.0009	0	0.356	0.12070	T	0.606	0.07894	T	0.136	0.27347	B	0.038	0.23361	B	0.000001	0.84330	D	0.051894	0.999918	0.51042	D	0.43	0.12624	N	2.24	0.17923	T	-0.88	0.24460	N	0.481	0.51583	-1.0671	0.10062	T	0.029	0.12585	T	10	0.14994812	0.28369	T	0.008393	0.22206	T	0.059	0.16972	.	.	0.216624796971	0.21254	0.5540030565637254	0.55327	0.178059495125	0.20030	0.644383072853	0.59187	T	0.034441	0.23322	T	-0.412133	0.01924	T	-0.501817	0.22159	T	0.0585156232118607	0.06932	T	0.889911	0.62289	D	0.34581095	0.56739	0.23281237	0.48452	0.34581095	0.56739	0.23281237	0.48451	-6.917	0.53425	T	.	.	0.135	0.45074	B	.;.;.	.;.;.	3.852931	0.55822	23.7	0.99682876395865105	0.79373	0.95354	0.64393	D	AEFBI	0.762546	0.69992	D	-0.0476920201111781	0.39705	2.345831	0.166030138022003	0.47999	3.021786	0.475038361892501	0.20739	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	5.77	4.71	0.59010	5.832000	0.69048	4.796000	0.44934	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9235:0.0:0.0765	15.691	0.77211	643	0.63827	CUB domain|CUB domain|CUB domain|CUB domain;.;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1315.98	35	chr3	142838869	.	C	T	1315.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=795;ExcessHet=0.0000;FS=2.539;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=-1.476e+00;SOR=0.954	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1180	20	0	1	0
chr3	146073298	146073298	T	C	exonic	PLOD2	.	nonsynonymous SNV	PLOD2:NM_000935:exon15:c.A1669G:p.I557V	Bruck syndrome 2, Autosomal recessive	.	886	631	5	0	0	5	0.00394633	.	.	289056	not_provided|Osteogenesis_imperfecta|Bruck_syndrome_2	MedGen:C3661900|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666|MONDO:MONDO:0012217,MedGen:C1836602,OMIM:609220,Orphanet:2771	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.57	T	0.025	B	0.021	B	0.013	N	0.811	D	0.04	N	-2.0	D	-0.881	T	0.256	T	0.129	0.694	7.708	0.202	-0.119	0.172	6.820	0.131	0.0248813343551	.	0.000199681	0.0009	0	0.0005	0	0	0.0004	0.0029	0.0028	0.0002329	36	154602	rs558336915	0.0002	0.0002	0.0001	0.0002	0.0022	0.0001	0.0001	0.0013	0.0011	0	5.319e-05	0	0	0	0.0022	6.231e-05	0.0004	0.0014	0.0001	0.0001	9.025e-05	0.0002	0.0023	8.192e-05	6.744e-05	0.0013	0.0010	0	0	0	0	0	0	0	0.0001	0	0.0023	0.579	0.07969	T	0.53	0.10103	T	0.0	0.19245	B	0.003	0.19346	B	0.013160	0.28935	N	0.411904	0.810866	0.34639	D	0.27	0.09956	N	-2.0	0.85393	D	-0.46	0.14978	N	0.269	0.30461	-0.8813	0.49657	T	0.256	0.62688	T	10	0.0077029765	0.00175	T	0.024881	0.47865	T	0.131	0.35738	.	.	0.383256108077	0.37933	0.4864992220880342	0.48569	0.0589295892916	0.06543	0.372450530529	0.21183	T	0.029318	0.21033	T	-0.421952	0.01662	T	-0.386145	0.35002	T	0.00719214286059132	0.00082	T	0.839116	0.51273	T	0.015042608	0.00119	0.019788636	0.00104	0.01868779	0.00391	0.020859445	0.00159	-3.577	0.17525	T	0.13744580842452422	0.15124	0.060	0.00949	B	.;.;.;.	.;.;.;.	2.044838	0.25992	16.96	0.81002638433277785	0.13472	0.83168	0.42308	D	AEFGBI	0.369065	0.45594	N	-0.918062255154669	0.10419	0.4978312	-0.749717490316742	0.15729	0.8286949	0.999901494445736	0.45458	0.732398	0.92422	0	0.573888	0.26702	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.68	0.202	0.14468	0.080000	0.14657	3.944000	0.40624	-0.242000	0.07441	0.523000	0.27135	1.000000	0.68203	0.991000	0.66497	0.3105:0.0:0.1815:0.508	6.820	0.23036	934	0.15400	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	595.98	33	chr3	146073298	.	T	C	595.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.272e+00;DP=740;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.46;ReadPosRankSum=1.91;SOR=0.780	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1109	20	0	1	0
chr3	146533479	146533479	C	T	exonic	PLSCR1	.	nonsynonymous SNV	PLSCR1:NM_001363872:exon2:c.G64A:p.A22T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.998	D	.	.	0.954	D	0.895	L	2.27	T	-1.054	T	0.088	T	0.279	2.017	12.70	2.67	1.049	0.414	8.899	0.075	0.0094325331685	0.0012	0.000399361	0.0014	0.0005	0.0008	0	0.0005	0.0021	0	0.0006	0.0013195	204	154602	rs41267859	0.0019	0.0019	0.0019	0.0018	0.0022	0.0018	0.0018	0.0022	0.0021	0.0003	0.0009	0.0023	0	0.0003	0.0004	0.0022	0.0016	0.0006	0.0012	0.0012	0.0015	0.0009	0.0020	0.0011	0.0010	0.0018	0.0017	0.0005	0	0.0007	0.0023	0	9.452e-05	0	0.0020	0.0009	0.0002	0.125	0.29420	T	0.521	0.17115	T	1.0	0.90584	D	0.992	0.80445	D	.	.	.	.	0.548581	0.37852	D	1.21	0.30464	L	2.23	0.23486	T	-0.54	0.18877	N	0.179	0.24260	-1.0543	0.13225	T	0.088	0.34078	T	9	0.009585679	0.00216	T	0.009433	0.24716	T	0.075	0.21907	.	.	0.436780212511	0.43300	0.28453310670984566	0.28366	0.155488872836	0.17549	0.327294737101	0.14526	T	0.089678	0.38424	T	-0.507863	0.00516	T	-0.509071	0.21410	T	0.0135204284049666	0.00248	T	0.656934	0.27277	T	0.03942368	0.05440	0.07433328	0.16250	0.03942368	0.05440	0.07433328	0.16249	-4.083	0.25039	T	.	.	0.083	0.12512	B	.;.;.;.	.;.;.;.	0.864268	0.12365	8.906	0.99343536175983627	0.60291	0.09430	0.15187	N	AEFBI	0.072883	0.14561	N	-0.164370050700881	0.34626	1.978648	-0.344711960885394	0.26673	1.474818	0.978018461769159	0.29878	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.58	2.67	0.30756	0.258000	0.18156	0.012000	0.13456	0.599000	0.40250	0.127000	0.23295	0.001000	0.17328	0.297000	0.24428	0.0:0.7712:0.2288:0.0	8.899	0.34638	780	0.47616	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	447.98	34	chr3	146533479	.	C	T	447.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.940e-01;DP=738;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.30;ReadPosRankSum=1.01;SOR=0.723	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1163	20	0	1	0
chr3	148741765	148741765	G	T	exonic	AGTR1	.	nonsynonymous SNV	AGTR1:NM_001382736:exon2:c.G730T:p.A244S	Renal tubular dysgenesis, Autosomal recessive	.	0	1495	27	0	0	27	0.00894929	.	.	697877	Renal_tubular_dysgenesis|not_provided	Human_Phenotype_Ontology:HP:0008660,MONDO:MONDO:0017609,MedGen:C0266313,Orphanet:3033|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.02	D	0.995	D	0.971	D	0.000	D	1.000	D	2.22	M	1.35	T	-0.718	T	0.179	T	0.709	4.561	24.7	5.48	2.572	6.739	19.387	0.203	.	0.0035	0.00259585	0.0041	0.0006	0.0009	0	0.0005	0.0045	0.0067	0.0099	0.0037386	578	154602	rs12721225	0.0039	0.0039	0.0036	0.0042	0.0095	0.0038	0.0038	0.0089	0.0087	0.0004	0.0009	0.0121	0	0.0011	0.0068	0.0037	0.0041	0.0095	0.0026	0.0026	0.0027	0.0025	0.0088	0.0024	0.0023	0.0067	0.0059	0.0007	0	0.0008	0.0135	0	0.0004	0.0136	0.0037	0.0033	0.0088	0.0	0.91255	D	0.028	0.58089	D	0.995	0.67487	D	0.971	0.72444	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.25	0.63811	M	1.35	0.34648	T	-2.45	0.53577	N	0.335	0.39558	-0.7182	0.59551	T	0.179	0.52536	T	10	0.008590668	0.00195	T	.	.	.	0.203	0.48915	.	.	0.76893090584	0.76681	0.41110278085935276	0.41026	.	.	0.634834647179	0.57830	T	0.616481	0.87918	D	-0.258494	0.13077	T	-0.137263	0.60356	T	0.0268276710647454	0.01519	T	0.840916	0.51656	T	0.78755105	0.83120	0.6933731	0.81951	0.86457974	0.88438	0.6971618	0.82167	-4.317	0.28414	T	.	.	0.197	0.43734	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.336420	0.66495	25.0	0.99690017490504323	0.79842	0.99212	0.92884	D	AEFI	0.951920	0.96692	D	0.816296992742933	0.87116	9.107697	0.796776669456628	0.89570	10.02896	0.999999999890723	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.48	5.48	0.80675	6.859000	0.75265	8.655000	0.77949	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.387	0.94551	489	0.76795	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1832.98	37	chr3	148741765	.	G	T	1832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.109e+00;DP=926;ExcessHet=0.0000;FS=1.304;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=0.846;SOR=0.621	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,108,1620	20	0	1	0
chr3	148844485	148844485	G	A	exonic	CPB1	.	nonsynonymous SNV	CPB1:NM_001871:exon7:c.G584A:p.R195H,	.	.	433	1075	14	0	0	14	0.0064695	.	.	3185057	not_provided|CPB1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.19	T	0.953	P	0.469	P	0.286	N	1.000	N	1.095	L	2.8	T	-1.047	T	0.019	T	0.287	1.304	10.27	3.98	1.457	2.452	10.128	0.061	.	0.0078	0.00399361	0.0092	0.0023	0.0042	0	0.0037	0.0144	0.0067	0.0032	0.009256	1431	154602	rs145346983	0.0098	0.0098	0.0100	0.0095	0.0189	0.0096	0.0096	0.0160	0.0150	0.0020	0.0049	0.0102	7.559e-05	0.0062	0.0189	0.0113	0.0080	0.0029	0.0074	0.0074	0.0076	0.0071	0.0117	0.0070	0.0069	0.0110	0.0108	0.0024	0.0044	0.0066	0.0081	0	0.0044	0.0238	0.0117	0.0090	0.0035	0.177	0.34621	T	0.195	0.36233	T	0.953	0.54283	P	0.469	0.46748	P	0.285761	0.14861	N	0.704595	1	0.08975	N	1.57	0.39626	L	2.8	0.11082	T	-1.05	0.36189	N	0.124	0.11626	-1.0470	0.15246	T	0.019	0.08126	T	10	0.007977992	0.00181	T	.	.	.	0.061	0.17616	.	.	0.476908202251	0.47319	0.7227306319833432	0.72217	0.474896107639	0.46669	0.34563690424	0.17278	T	0.030627	0.21663	T	-0.559001	0.00257	T	-0.562769	0.16117	T	0.0155491078151295	0.00353	T	0.746025	0.36642	T	0.08427297	0.19497	0.06251268	0.12243	0.08427297	0.19497	0.06251268	0.12242	-3.658	0.18700	T	.	.	0.104	0.19598	B	.;.;.	.;.;.	4.503074	0.70449	25.5	0.9900136409777327	0.50148	0.17718	0.19958	N	AEFI	0.320493	0.42358	N	-0.0196586563048347	0.40967	2.442081	-0.0468730179508484	0.37626	2.205591	1.15598487584629E-4	0.05269	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.78	3.98	0.45383	2.049000	0.40912	2.232000	0.31540	0.676000	0.76740	0.013000	0.18845	0.033000	0.21346	0.824000	0.38829	0.218:0.0:0.782:0.0	10.128	0.41837	521	0.74284	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase B, carboxypeptidase domain;Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase B, carboxypeptidase domain;Peptidase M14, carboxypeptidase A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	827.98	37	chr3	148844485	.	G	A	827.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=784;ExcessHet=0.0000;FS=1.878;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.63;ReadPosRankSum=-1.800e-01;SOR=0.953	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1265	20	0	1	0
chr3	148865549	148865549	G	A	splicing	CPA3	NM_001870:exon2:c.144+1G>A	.	.	.	.	432	1088	2	0	0	2	0.000918274	1.0000	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.503	17.91	6.17	2.941	5.154	19.651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1468239691	2.739e-06	2.736e-06	4.088e-06	1.376e-06	0.0002	6.4e-07	4.3e-07	.	.	0	2.242e-05	0	0	0	0.0002	9e-07	0	1.162e-05	6.577e-06	6.569e-06	0	1.347e-05	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387591	0.89184	D	0.401837	0.92172	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.232334	0.87830	29.4	0.99487275681122156	0.67235	0.98313	0.81530	D	AEFBIJ	.	.	.	1.1433532171453	0.98859	19.647	1.00541625640445	0.98730	19.17642	0.999932430513101	0.46732	0.06567	0.01388	0	0.085267	0.02369	0	0.060301	0.00762	0	0.075334	0.01956	0	0.979767	0.84597	6.17	6.17	0.99707	5.224000	0.65119	8.367000	0.77040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.878000	0.41950	0.0:0.0:1.0:0.0	19.651	0.95800	543	0.72751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1306.98	38	chr3	148865549	.	G	A	1306.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=847;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=-1.282e+00;SOR=0.685	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1132	20	0	1	0
chr3	148883652	148883652	G	C	exonic	CPA3	.	nonsynonymous SNV	CPA3:NM_001870:exon9:c.G818C:p.R273P,	.	.	442	1072	7	1	0	9	0.00418021	.	.	720246	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.17	T	0.979	D	0.8	P	0.000	D	0.669	N	1.145	L	2.63	T	-1.114	T	0.023	T	0.072	3.563	18.17	2.88	1.205	1.792	9.504	0.120	.	0.0077	0.00379393	0.0063	0.0020	0.0074	0	0.0039	0.0086	0.0066	0.0033	0.0063324	979	154602	rs143184657	0.0089	0.0089	0.0090	0.0088	0.0103	0.0088	0.0087	0.0102	0.0101	0.0012	0.0073	0.0078	0	0.0028	0.0021	0.0103	0.0089	0.0028	0.0069	0.0069	0.0074	0.0064	0.0126	0.0066	0.0064	0.0112	0.0106	0.0016	0.0186	0.0126	0.0078	0	0.0041	0	0.0098	0.0119	0.0023	0.024	0.47745	D	0.048	0.48594	D	0.979	0.59044	D	0.8	0.58175	P	0.000123	0.49741	D	0.176841	0.668884	0.30382	N	1.69	0.43327	L	2.63	0.12884	T	-0.69	0.19720	N	0.205	0.22742	-1.1139	0.02755	T	0.023	0.09650	T	10	0.024446815	0.00673	T	.	.	.	0.120	0.33359	.	.	0.505826522194	0.50221	0.5931420028036174	0.59244	0.128944065121	0.14542	0.222938448191	0.01486	T	0.052759	0.29251	T	-0.630723	0.00095	T	-0.668379	0.07712	T	0.0359230033210683	0.02967	T	0.560444	0.19591	T	0.3036503	0.53230	0.28608027	0.54614	0.3036503	0.53230	0.28608027	0.54613	-5.667	0.43399	T	.	.	0.217	0.44720	B	.	.	2.399741	0.30830	18.56	0.98346845897002477	0.40497	0.90399	0.51544	D	AEFBI	0.522596	0.54654	D	-0.0217027367971859	0.40875	2.43498	-0.123594230243295	0.34441	1.981173	0.676360530176365	0.22430	0.632932	0.41330	0	0.573888	0.26702	0	0.573888	0.23631	0	0.755437	0.99637	0	.	.	4.77	2.88	0.32617	1.934000	0.39793	-0.241000	0.10591	0.618000	0.50648	0.943000	0.32764	0.000000	0.08366	0.018000	0.11154	0.0829:0.1437:0.7733:0.0	9.504	0.38201	545	0.72614	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase B, carboxypeptidase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1214.98	35	chr3	148883652	.	G	C	1214.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.80;DP=791;ExcessHet=0.0000;FS=3.667;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=-1.602e+00;SOR=1.126	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1260	20	0	1	0
chr3	148883682	148883682	C	T	exonic	CPA3	.	nonsynonymous SNV	CPA3:NM_001870:exon9:c.C848T:p.T283M,	.	.	443	1077	2	0	0	2	0.000927644	.	.	697880	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.997	D	0.000	D	0.999	D	2.86	M	2.54	T	-0.906	T	0.094	T	0.723	2.840	15.46	4.77	2.493	2.917	16.708	0.262	.	0.0052	0.00299521	0.0050	0.0013	0.0010	0	0.0106	0.0074	0.0066	0.0005	0.0049611	767	154602	rs140470073	0.0060	0.0060	0.0062	0.0058	0.0069	0.0059	0.0059	0.0068	0.0068	0.0011	0.0016	0.0005	0	0.0104	0.0007	0.0069	0.0054	0.0006	0.0047	0.0047	0.0046	0.0049	0.0069	0.0044	0.0043	0.0064	0.0061	0.0012	0	0.0050	0	0	0.0115	0	0.0069	0.0024	0.0006	0.004	0.65419	D	0.01	0.65728	D	1.0	0.90584	D	0.997	0.86255	D	0.000139	0.49741	D	0.177723	0.998632	0.45197	D	2.86	0.83026	M	2.54	0.13916	T	-2.78	0.58896	D	0.656	0.66615	-0.9062	0.47308	T	0.094	0.35631	T	10	0.012537181	0.00269	T	.	.	.	0.262	0.57482	.	.	0.519460762563	0.51590	0.7035755361759154	0.70298	0.172313707353	0.19406	0.500486969948	0.38897	T	0.228787	0.59443	T	-0.324975	0.06498	T	-0.233607	0.51421	T	0.0290821585606453	0.01850	T	0.979152	0.92740	D	0.4448134	0.63711	0.40351567	0.64804	0.4448134	0.63712	0.40351567	0.64804	-7.59	0.58241	D	.	.	0.214	0.44319	B	.	.	4.346290	0.66720	25.0	0.99905004022820387	0.97576	0.86085	0.45301	D	AEFBI	0.552100	0.56390	D	0.603474900339483	0.73395	5.958985	0.497893870671693	0.67851	5.139551	0.997490318381651	0.35680	0.632932	0.41330	0	0.573888	0.26702	0	0.573888	0.23631	0	0.755437	0.99637	0	.	.	4.77	4.77	0.60425	1.050000	0.30014	7.138000	0.57644	0.549000	0.26987	0.038000	0.20882	1.000000	0.68203	0.845000	0.39915	0.0:1.0:0.0:0.0	16.708	0.85237	545	0.72614	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase B, carboxypeptidase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1429.98	35	chr3	148883682	.	C	T	1429.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.049e+00;DP=814;ExcessHet=0.0000;FS=0.665;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.00;ReadPosRankSum=-7.540e-01;SOR=0.825	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1260	20	0	1	0
chr3	148994180	148994180	G	A	exonic	GYG1	.	nonsynonymous SNV	GYG1:NM_001184720:exon2:c.G46A:p.A16T	Polyglucosan body myopathy 2, Autosomal recessive	.	0	1505	16	1	0	18	0.00594452	.	.	1630958	not_provided|Inborn_genetic_diseases|Polyglucosan_body_myopathy_type_2|Glycogen_storage_disease_XV	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014526,MedGen:C4015452,OMIM:616199,Orphanet:456369|MONDO:MONDO:0013291,MedGen:C3150754,OMIM:613507,Orphanet:263297	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	0.674	P	0.182	B	0.000	D	1.000	D	1.85	L	0.85	T	-0.852	T	0.141	T	0.476	3.914	19.90	5.29	2.466	6.292	18.942	0.125	0.0189551669034	.	0.000798722	0.0009	9.632e-05	0.0006	0	0	4.504e-05	0	0.0063	0.0007762	120	154602	rs200947378	0.0005	0.0005	0.0003	0.0007	0.0071	0.0005	0.0004	0.0066	0.0064	8.962e-05	4.472e-05	0	0	0	0.0021	4.407e-05	0.0006	0.0071	0.0002	0.0002	5.15e-05	0.0003	0.0052	0.0001	0.0001	0.0036	0.0031	2.417e-05	0	0	0	0	0	0	4.414e-05	0	0.0052	0.086	0.34621	T	0.066	0.48080	T	0.14	0.41239	B	0.039	0.35926	B	0.000007	0.62929	D	0.109289	1	0.81001	D	2.55	0.74443	M	0.85	0.47130	T	-1.7	0.40468	N	0.414	0.45803	-0.8518	0.51844	T	0.141	0.46054	T	10	0.01212883	0.00262	T	0.018955	0.41188	T	0.125	0.34456	0.607	0.73945	0.656629922374	0.65376	0.554284495195052	0.55355	0.105508220992	0.11931	0.639343380928	0.58471	T	0.251625	0.62190	T	-0.372465	0.03471	T	-0.304768	0.44219	T	0.0903793995208192	0.11263	T	0.768423	0.39947	T	0.45805606	0.64550	0.3739901	0.62575	0.539859	0.69390	0.3447308	0.60165	-5.834	0.46036	T	0.2348835315590937	0.31801	0.158	0.35013	B	.;.;.;.;.;.	.;.;.;.;.;.	3.692126	0.52612	23.3	0.99801614418373552	0.88639	0.95900	0.66639	D	AEFGBCI	0.844488	0.76145	D	0.283108905397718	0.55290	3.693315	0.404740604957056	0.61858	4.392114	0.999999999999998	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.29	5.29	0.74430	6.403000	0.73186	6.629000	0.56146	-0.119000	0.14319	1.000000	0.71638	1.000000	0.68203	0.922000	0.45779	0.0:0.0:1.0:0.0	18.942	0.92584	906	0.23090	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1705.11	34	chr3	148994180	.	G	A	1705.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=6.000e-03;DP=858;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.70;ReadPosRankSum=2.02;SOR=0.712	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1185	19	0	2	0
chr3	149040122	149040122	A	G	exonic	HLTF	.	nonsynonymous SNV	HLTF:NM_001318934:exon21:c.T2408C:p.I803T	.	.	430	1088	4	0	0	4	0.00183486	.	.	3199681	HLTF-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.732	P	0.264	B	.	.	1.000	D	2.07	M	-1.91	D	0.060	D	0.454	T	0.566	3.350	17.28	5.5	2.100	7.487	15.293	0.563	0.114512013242	0.0027	0.00199681	0.0028	0.0006	0.0018	0	0.0012	0.0044	0.0022	0.0006	0.0027684	428	154602	rs61750365	0.0034	0.0034	0.0034	0.0033	0.0040	0.0033	0.0033	0.0039	0.0038	0.0007	0.0025	0.0026	0	0.0014	0.0016	0.0040	0.0028	0.0007	0.0027	0.0027	0.0028	0.0026	0.0043	0.0025	0.0024	0.0037	0.0035	0.0008	0.0044	0.0043	0.0020	0	0.0016	0	0.0041	0.0028	0.0004	0.006	0.61437	D	0.022	0.57587	D	0.732	0.42714	P	0.264	0.39629	B	.	.	.	.	0.999555	0.47544	D	2.93	0.84523	M	-1.91	0.84701	D	-3.1	0.67589	D	0.419	0.47022	0.060	0.83429	D	0.454	0.78709	T	9	0.009617865	0.00217	T	0.114512	0.79339	D	0.563	0.82118	.	.	0.902178378249	0.90120	0.580098946535143	0.57938	0.285657866325	0.30974	0.573764562607	0.49209	T	0.090357	0.38568	T	-0.165557	0.25908	T	-0.0100464	0.69682	D	0.0446388796703812	0.04537	T	0.846115	0.52631	T	0.24728315	0.47704	0.32273155	0.58210	0.24728315	0.47704	0.32273155	0.58210	-10.591	0.77369	D	.	.	0.682	0.78008	P	.;.;.;.;.	.;.;.;.;.	4.170564	0.62707	24.5	0.99623845455794413	0.75594	0.98708	0.85845	D	AEFBI	0.781809	0.71328	D	0.443251018824958	0.63820	4.623415	0.518710669634527	0.69249	5.333682	0.99999997995652	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.5	5.5	0.81386	7.563000	0.81293	11.115000	0.86412	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	15.293	0.73585	912	0.21483	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1114.98	34	chr3	149040122	.	A	G	1114.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.061;DP=780;ExcessHet=0.0000;FS=9.446;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=-2.336e+00;SOR=1.662	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	20	0	1	0
chr3	149527888	149527888	T	A	exonic	WWTR1	.	nonsynonymous SNV	WWTR1:NM_001168280:exon5:c.A853T:p.T285S	.	.	427	1016	74	5	0	84	0.0396975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.190	N	0.946	N	0.455	N	1.05	T	-1.021	T	0.025	T	0.072	2.398	13.98	3.92	2.046	2.609	7.488	0.114	.	0.0048	0.0195687	0.0145	0.0044	0.0047	0.0013	0.0020	0.0079	0.0088	0.0668	0.0130529	2018	154602	rs28763914	0.0095	0.0095	0.0078	0.0113	0.0648	0.0094	0.0093	0.0633	0.0628	0.0043	0.0057	0.0320	0.0009	0.0018	0.0288	0.0055	0.0118	0.0648	0.0082	0.0083	0.0070	0.0095	0.0685	0.0079	0.0077	0.0624	0.0600	0.0045	0	0.0105	0.0334	0.0012	0.0009	0.0340	0.0061	0.0099	0.0685	1.0	0.00964	T	1.0	0.03945	T	0.0	0.02946	B	0.001	0.04355	B	0.189626	0.16881	N	0.622461	0.945773	0.26651	N	0.405	0.12330	N	1.05	0.39990	T	0.6	0.02853	N	0.277	0.32481	-1.0210	0.23389	T	0.025	0.10866	T	10	0.0015960932	0.00018	T	.	.	.	0.114	0.32008	0.065	0.00293	.	.	0.290718380610075	0.28984	0.42995996695	0.43261	0.481068134308	0.36204	T	0.214331	0.57588	T	-0.644689	0.00078	T	-0.650148	0.08944	T	0.0179148183194432	0.00518	T	0.476852	0.14330	T	0.07942054	0.18144	0.04499123	0.05953	0.07942054	0.18143	0.04499123	0.05953	-4.436	0.30042	T	0.1702844105836142	0.21400	0.074	0.10545	B	.;.;.;.	.;.;.;.	2.307038	0.29529	18.15	0.87434686040373133	0.17225	0.89995	0.50835	D	ALL	0.790365	0.71928	D	-0.400604213907978	0.25447	1.381	-0.180672069225818	0.32247	1.832765	0.999999999898381	0.74766	0.758104	0.99027	0	0.588066	0.40923	0	0.691618	0.62860	0	0.648885	0.59868	0	.	.	5.09	3.92	0.44525	2.685000	0.46626	3.438000	0.38361	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0762:0.1435:0.7804	7.488	0.26617	695	0.58372	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	894.98	39	chr3	149527888	.	T	A	894.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.347;DP=758;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.21;ReadPosRankSum=-1.411e+00;SOR=0.704	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,934	20	0	1	0
chr3	149741679	149741679	C	T	exonic	COMMD2	.	nonsynonymous SNV	COMMD2:NM_016094:exon5:c.G442A:p.V148M,	.	.	438	1079	5	0	0	5	0.0023116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.363	B	0.117	B	0.001	D	1.000	D	1.395	L	2.83	T	-1.053	T	0.017	T	0.327	2.459	14.18	3.6	1.394	2.138	9.022	0.068	0.010334818708	0.0036	0.000998403	0.0032	0.0013	0.0026	0	0.0002	0.0048	0.0022	0.0018	0.0002305	6	26028	rs148182261	0.0045	0.0045	0.0046	0.0044	0.0053	0.0044	0.0044	0.0052	0.0052	0.0010	0.0031	0.0012	0	0.0004	0.0050	0.0053	0.0048	0.0019	0.0034	0.0034	0.0038	0.0029	0.0055	0.0031	0.0030	0.0050	0.0048	0.0012	0	0.0044	0.0006	0	0.0005	0	0.0055	0.0033	0.0015	0.107	0.29554	T	0.085	0.41074	T	0.363	0.33965	B	0.117	0.32014	B	0.000750	0.42006	D	0.236824	1.000	0.50806	D	1.925	0.51371	L	2.83	0.10771	T	-1.38	0.34198	N	0.235	0.26475	-1.0534	0.13466	T	0.017	0.06998	T	10	0.009713143	0.00218	T	0.010335	0.26741	T	0.068	0.19811	.	.	0.206339911435	0.20273	0.4787639907168906	0.47796	0.663642696589	0.59027	0.540998578072	0.44585	T	0.071297	0.34172	T	-0.509788	0.00503	T	-0.49709	0.22650	T	0.00915085435720111	0.00115	T	0.859914	0.55237	D	0.055687983	0.10857	0.09599147	0.22788	0.055687983	0.10856	0.09599147	0.22787	-8.17	0.62223	D	.	.	0.126	0.26794	B	.	.	3.391021	0.46947	22.4	0.99018905064779783	0.50527	0.91585	0.53837	D	AEFBI	0.141364	0.26351	N	0.0136838314858404	0.42478	2.560067	0.128448531586511	0.46011	2.854192	5.21368158721951E-4	0.07225	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.76	3.6	0.40374	1.565000	0.35993	2.656000	0.33848	0.599000	0.40250	0.885000	0.31090	0.993000	0.31925	1.000000	0.97212	0.0:0.7284:0.1328:0.1388	9.022	0.35368	743	0.52768	COMM domain|COMM domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1189.98	41	chr3	149741679	.	C	T	1189.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.210e-01;DP=924;ExcessHet=0.0000;FS=3.188;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.06;ReadPosRankSum=1.63;SOR=0.398	GT:AD:DP:GQ:PL	0/1:33,46:79:99:1204,0,823	20	0	1	0
chr3	149780310	149780310	T	C	exonic	ANKUB1	.	nonsynonymous SNV	ANKUB1:NM_001144960:exon3:c.A380G:p.Y127C	.	.	428	1076	18	0	0	18	0.00829493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.99	D	0.694	P	0.037	N	0.627	N	1.15	L	1.62	T	-0.980	T	0.059	T	0.355	2.473	14.23	2.57	0.955	1.505	9.733	0.059	.	0.0096	0.00259585	0.0065	0.0028	0.0048	0	0.0074	0.0109	0.0164	0.0028	0.002238	346	154602	rs62622807	0.0092	0.0088	0.0093	0.0090	0.0104	0.0090	0.0090	0.0103	0.0102	0.0017	0.0051	0.0059	5.596e-05	0.0085	0.0028	0.0104	0.0079	0.0038	0.0071	0.0071	0.0075	0.0066	0.0110	0.0067	0.0066	0.0104	0.0101	0.0017	0.0164	0.0069	0.0061	0	0.0078	0.0034	0.0110	0.0076	0.0033	0.006	0.61437	D	0.003	0.76473	D	.	.	.	.	.	.	0.036746	0.24484	N	0.344622	0.626684	0.30734	N	1.845	0.48678	L	1.59	0.28836	T	-4.27	0.77308	D	0.535	0.60241	-0.9800	0.35002	T	0.059	0.24871	T	10	0.009616643	0.00217	T	.	.	.	0.059	0.16972	.	.	0.16115917748	0.15686	0.6313377433510485	0.63067	.	.	0.464682281017	0.33951	T	0.119024	0.44027	T	-0.479141	0.00748	T	-0.449998	0.27697	T	0.0280924054870064	0.01701	T	0.824917	0.49388	T	0.1765746	0.38577	0.19020109	0.42409	0.1765746	0.38577	0.19020109	0.42408	-6.139	0.48165	T	.	.	0.345	0.57261	A	.;.	.;.	4.040737	0.59821	24.1	0.99617837872995507	0.75233	0.65854	0.32878	D	AEFGBI	0.259308	0.37768	N	0.110943789790052	0.46974	2.929609	0.0792487679677218	0.43505	2.650986	0.999044745899756	0.38290	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.35	2.57	0.29928	1.470000	0.34963	5.183000	0.47871	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.678000	0.33484	0.4138:0.0:0.0:0.5862	9.733	0.39540	802	0.44336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1405.98	33	chr3	149780310	.	T	C	1405.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.28;DP=789;ExcessHet=0.0000;FS=5.338;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.35;ReadPosRankSum=-7.330e-01;SOR=1.296	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1349	20	0	1	0
chr3	149982425	149982425	A	C	exonic	TMEM183B	.	nonsynonymous SNV	TMEM183B:NM_001079809:exon1:c.T884G:p.L295R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.648e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs778931455	1.231e-05	1.231e-05	8.169e-06	1.65e-05	0.0001	7.7e-06	6.35e-06	7.998e-05	6.236e-05	0	0	0	0	0	0	4.497e-06	1.656e-05	0.0001	6.569e-06	1.313e-05	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	2899.33	35	chr3	149982425	.	A	C	2899.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.689e+00;DP=927;ExcessHet=0.0000;FS=2.758;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=57.79;MQRankSum=0.179;QD=11.37;ReadPosRankSum=0.710;SOR=0.832	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	19	0	1	1
chr3	149982710	149982710	C	T	exonic	TMEM183B	.	nonsynonymous SNV	TMEM183B:NM_001079809:exon1:c.G599A:p.R200Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.942e-05	0	0	0	0	8.99e-05	0	0	3.84e-05	1	26028	rs775775405	1.368e-05	1.368e-05	1.225e-05	1.513e-05	3.478e-05	8.94e-06	7.26e-06	9.24e-06	5.72e-06	0	0	0	2.519e-05	0	0	1.259e-05	3.312e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	2975.33	35	chr3	149982710	.	C	T	2975.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=4.24;DP=899;ExcessHet=0.0000;FS=4.562;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=56.66;MQRankSum=-5.450e-01;QD=13.34;ReadPosRankSum=1.42;SOR=0.506	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	19	0	1	1
chr3	150568244	150568244	A	C	exonic	EIF2A	.	nonsynonymous SNV	EIF2A:NM_001319044:exon7:c.A580C:p.T194P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.972	D	0.000	D	1.000	D	2.505	M	3.26	T	-0.366	T	0.323	T	0.97	4.363	23.0	5.95	2.272	8.904	16.407	0.534	0.0213425064669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.53900	D	0.056	0.47097	T	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.73	0.79844	M	1.41	0.33630	T	-3.0	0.62343	D	0.65	0.71232	-0.3658	0.73089	T	0.323	0.69221	T	10	0.70100224	0.72443	D	0.021343	0.44093	T	0.553	0.81544	0.699	0.83592	0.784700991407	0.78271	0.743168788842752	0.74262	0.616629423173	0.56118	0.708202362061	0.68333	T	0.485356	0.81229	T	0.267661	0.80231	D	0.147	0.79975	D	0.947994828224182	0.62800	D	0.933407	0.75038	D	0.7038058	0.78265	0.74330014	0.84827	0.7038058	0.78267	0.74330014	0.84827	-13.337	0.92037	D	.	.	0.918	0.84045	P	.;.;.;.	.;.;.;.	4.822277	0.78552	26.9	0.9964849368424693	0.77130	0.99682	0.98627	D	AEFBI	0.969621	0.99199	D	0.668070418135055	0.77542	6.694877	0.58825442757094	0.74097	6.079336	0.999999805332197	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	5.95	0.96415	8.887000	0.92083	11.231000	0.90101	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	1.0:0.0:0.0:0.0	16.407	0.83516	928	0.17405	.;Translation initiation factor, beta propellor-like domain;.;Translation initiation factor, beta propellor-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04545	104.89	55	chr3	150568244	.	A	C	104.89	.	AC=1;AF=0.045;AN=22;BaseQRankSum=-5.330e-01;DP=901;ExcessHet=0.0000;FS=101.470;InbreedingCoeff=-0.1667;MLEAC=2;MLEAF=0.091;MQ=59.96;MQRankSum=0.00;QD=3.09;ReadPosRankSum=1.05;SOR=5.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:23,1:24:51:0|1:150568241_C_A:0,51,757:150568241	10	0	1	10
chr3	151436721	151436721	C	T	exonic	IGSF10	.	nonsynonymous SNV	IGSF10:NM_001178145:exon2:c.G1777A:p.D593N	.	.	426	1058	35	3	0	41	0.0190079	.	.	720252	IGSF10-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.09	T	1.0	D	1.0	D	0.000	D	1.000	D	1.32	L	-0.28	T	-0.341	T	0.336	T	0.199	4.699	26.0	5.29	2.627	7.398	19.288	0.416	.	0.0050	0.00658946	0.0081	0.0007	0.0023	0	0.0014	0.0075	0.0069	0.0280	0.0075549	1168	154602	rs112889898	0.0063	0.0063	0.0056	0.0071	0.0249	0.0062	0.0062	0.0240	0.0236	0.0010	0.0018	0.0097	2.519e-05	0.0018	0.0139	0.0055	0.0065	0.0249	0.0042	0.0042	0.0041	0.0043	0.0239	0.0039	0.0038	0.0203	0.0190	0.0010	0	0.0020	0.0086	0	0.0009	0.0034	0.0059	0.0047	0.0239	0.008	0.58626	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000236	0.47286	D	0.000000	1	0.81001	D	1.66	0.42513	L	-0.28	0.67543	T	-4.54	0.78472	D	0.472	0.50778	-0.3405	0.73829	T	0.336	0.70273	T	10	0.0074222684	0.00169	T	.	.	.	0.416	0.72631	.	.	0.852122049203	0.85070	0.5972429066985149	0.59655	0.181282988831	0.20385	0.47312232852	0.35109	T	0.229476	0.59530	T	-0.391988	0.02612	T	-0.316916	0.42911	T	0.0139233739256959	0.00266	T	0.840716	0.51609	T	0.74920493	0.80822	0.69958293	0.82302	0.74920493	0.80824	0.69958293	0.82303	-7.282	0.56067	T	.	.	0.230	0.46308	B	.	.	4.461008	0.69433	25.4	0.99910330546703607	0.98022	0.98755	0.86437	D	AEFDBI	0.935322	0.93002	D	0.644550737710421	0.76017	6.409421	0.625740768626065	0.76816	6.561028	0.999999999999983	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	7.520000	0.80737	4.851000	0.45376	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	19.288	0.94072	819	0.41190	Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1079.98	33	chr3	151436721	.	C	T	1079.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.79;DP=794;ExcessHet=0.0000;FS=4.629;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.67;ReadPosRankSum=-5.490e-01;SOR=1.308	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,120,1447	20	0	1	0
chr3	151437050	151437050	T	C	exonic	IGSF10	.	nonsynonymous SNV	IGSF10:NM_001178145:exon2:c.A1448G:p.Y483C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.001	D	1.000	D	4.06	H	-3.39	D	1.096	D	0.933	D	0.988	3.297	17.08	5.3	2.131	7.606	15.550	0.931	0.125302229035	.	0.000599042	0.0005	0	0	0	0	2.997e-05	0	0.0035	0.0004334	67	154602	rs561757162	0.0002	0.0002	0.0001	0.0003	0.0038	0.0002	0.0002	0.0035	0.0034	0	0	0	0	0	0	9.893e-06	0.0002	0.0038	0.0001	0.0001	8.992e-05	0.0002	0.0039	9.14e-05	7.697e-05	0.0026	0.0021	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0.0039	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000552	0.43413	D	0.000000	1	0.81001	D	4.535	0.99082	H	-3.39	0.94210	D	-8.6	0.97464	D	0.881	0.87917	1.096	0.99490	D	0.933	0.97795	D	10	0.3360586	0.50752	T	0.125302	0.80680	D	0.931	0.98378	0.904	0.97943	0.958833883477	0.95839	0.9297953489322615	0.92957	0.193693053295	0.21702	0.576709508896	0.49621	T	0.391779	0.75162	T	0.201023	0.73987	D	0.515141	0.94945	D	0.39209023091698	0.28643	T	0.908809	0.67676	D	0.8915941	0.90644	0.909611	0.95661	0.8915941	0.90645	0.909611	0.95661	-11.336	0.81469	D	.	.	0.912	0.83593	P	.	.	4.855959	0.79421	27.1	0.99659012786796486	0.77820	0.99560	0.97447	D	AEFDBI	.	.	.	0.799659007982722	0.86085	8.77338	0.633928590357299	0.77418	6.675689	0.999999999995704	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.3	5.3	0.74745	7.626000	0.82344	7.855000	0.71153	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.0:0.0:1.0	15.550	0.75883	819	0.41190	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2382.98	119	chr3	151437050	.	T	C	2382.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.95;DP=2669;ExcessHet=0.0000;FS=6.845;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.35;ReadPosRankSum=-1.105e+00;SOR=1.139	GT:AD:DP:GQ:PL	0/0:124,0:124:99:0,120,1800	20	0	1	0
chr3	151437075	151437075	-	TTCT	exonic	IGSF10	.	frameshift insertion	IGSF10:NM_001178145:exon2:c.1422_1423insAGAA:p.A475Rfs*6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.766e-05	0	8.637e-05	0	0	8.992e-05	0	0	4.53e-05	7	154602	rs757939873	4.788e-05	4.788e-05	5.173e-05	4.4e-05	5.755e-05	3.86e-05	3.54e-05	4.612e-05	4.197e-05	2.987e-05	4.472e-05	0	2.519e-05	0	0	5.755e-05	1.656e-05	1.159e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.412e-05	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4577.94	119	chr3	151437075	.	C	CTTCT	4577.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.831;DP=2720;ExcessHet=0.0000;FS=3.651;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.65;ReadPosRankSum=-1.173e+00;SOR=0.929	GT:AD:DP:GQ:PL	0/0:124,0:124:99:0,120,1800	20	0	1	0
chr3	151446956	151446956	G	A	exonic	IGSF10	.	nonsynonymous SNV	IGSF10:NM_001385061:exon5:c.C3025T:p.R1009C	.	.	428	1086	8	0	0	8	0.00366972	.	.	2099438	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.13	T	0.999	D	0.642	P	0.038	N	0.701	D	0.895	L	-0.4	T	-0.438	T	0.246	T	0.496	2.852	15.50	5.37	2.513	4.968	13.412	0.225	.	7.7e-05	0.00459265	0.0034	9.654e-05	0.0003	0	0	0.0002	0.0022	0.0242	0.0029366	454	154602	rs140953154	0.0016	0.0016	0.0009	0.0022	0.0240	0.0015	0.0015	0.0232	0.0228	0	4.472e-05	0	2.519e-05	0	0.0016	8.363e-05	0.0015	0.0240	0.0008	0.0008	0.0004	0.0012	0.0228	0.0006	0.0006	0.0193	0.0180	9.625e-05	0	0	0	0	0	0	2.94e-05	0	0.0228	0.003	0.68238	D	0.031	0.53788	D	0.999	0.77913	D	0.642	0.52168	P	0.038104	0.24322	N	0.293803	0.701021	0.33421	D	2.3	0.65703	M	-0.4	0.69287	T	-2.81	0.59389	D	0.352	0.39356	-0.4376	0.70810	T	0.246	0.61459	T	10	0.005230248	0.00114	T	.	.	.	0.225	0.52323	.	.	0.808982704999	0.80719	0.4857493066353003	0.48494	0.13870021875	0.15641	0.190077885985	0.00226	T	0.010772	0.09688	T	-0.30806	0.07919	T	-0.197029	0.54929	T	0.107509240820821	0.13164	T	0.744226	0.36418	T	0.22701162	0.45394	0.14243293	0.33884	0.22701162	0.45394	0.14243293	0.33883	-8.708	0.65798	D	.	.	0.127	0.27039	B	.	.	4.911271	0.80804	27.4	0.99908697256026691	0.97875	0.96516	0.69530	D	AEFBI	0.657212	0.62892	D	0.335311030475802	0.57968	3.966632	0.345015051504374	0.58209	3.990014	0.999996484416945	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.37	5.37	0.76949	5.065000	0.64175	6.360000	0.55506	0.509000	0.23192	1.000000	0.71638	0.999000	0.35428	0.539000	0.29915	0.0759:0.0:0.9241:0.0	13.412	0.60394	813	0.42397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2583.98	41	chr3	151446956	.	G	A	2583.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.38;DP=914;ExcessHet=0.0000;FS=2.354;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=1.90;SOR=0.542	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr3	151447055	151447055	T	C	exonic	IGSF10	.	nonsynonymous SNV	IGSF10:NM_001385061:exon5:c.A2926G:p.I976V	.	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.002	B	0.004	B	0.272	N	1.000	N	0	N	-0.25	T	-1.042	T	0.107	T	0.067	0.435	6.362	-0.31	-0.294	0.913	5.766	0.023	0.0189283022976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	5.038e-05	2.3e-07	9e-08	8.35e-06	3.12e-06	0	0	0	5.038e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	0.15770	T	0.374	0.16280	T	0.002	0.09854	B	0.004	0.10090	B	0.272479	0.15101	N	0.577006	1	0.08975	N	0	0.06538	N	-0.25	0.67011	T	0.24	0.04533	N	0.06	0.03175	-1.0425	0.16562	T	0.107	0.38955	T	10	0.044204533	0.03351	T	0.018928	0.41149	T	0.023	0.04649	0.211	0.12923	0.289474373501	0.28556	0.1223707893444032	0.12164	0.0206115458999	0.02030	0.239484012127	0.02744	T	4.13E-4	0.00135	T	-0.232447	0.16326	T	-0.57167	0.15296	T	0.141550481319427	0.16408	T	0.313269	0.06152	T	0.030888712	0.02832	0.030916944	0.01610	0.030888712	0.02831	0.030916944	0.01610	-3.336	0.14206	T	.	.	0.090	0.12512	B	.	.	0.680013	0.10487	7.201	0.276515095094792	0.01383	0.10650	0.16096	N	AEBI	0.122713	0.23798	N	-1.27651850434886	0.03960	0.1778595	-1.26723369852315	0.04880	0.2312981	0.779418275438989	0.23814	0.632932	0.41330	0	0.573888	0.26702	0	0.601832	0.32385	0	0.542086	0.14980	0	.	.	5.03	-0.31	0.12132	1.095000	0.30575	0.073000	0.14287	-0.236000	0.07595	0.136000	0.23442	0.000000	0.08366	0.032000	0.13371	0.0:0.1928:0.242:0.5653	5.766	0.17496	813	0.42397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2414.98	41	chr3	151447055	.	T	C	2414.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.638;DP=990;ExcessHet=0.0000;FS=7.738;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.08;ReadPosRankSum=-2.436e+00;SOR=1.174	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr3	151449185	151449185	C	T	exonic	IGSF10	.	nonsynonymous SNV	IGSF10:NM_001385061:exon5:c.G796A:p.G266S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.18	B	0.044	B	0.007	N	0.886	D	2.9	M	0.55	T	-0.715	T	0.192	T	0.106	1.769	11.87	4.5	1.273	2.449	11.023	0.106	0.0315729772146	.	.	.	.	.	.	.	.	.	.	.	.	.	rs979960604	4.789e-06	4.788e-06	2.722e-06	6.876e-06	6.295e-06	1.99e-06	1.28e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.295e-06	0	0	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.164	0.23360	T	0.135	0.34124	T	0.18	0.29046	B	0.044	0.24394	B	0.006972	0.31682	N	0.143558	0.88612	0.35852	D	2.39	0.68882	M	0.55	0.54728	T	-0.91	0.24460	N	0.195	0.21449	-0.7149	0.59712	T	0.192	0.54506	T	10	0.11080611	0.20725	T	0.031573	0.53626	D	0.106	0.30130	0.205	0.12076	0.72024247472	0.71777	0.438842147396725	0.43801	0.0312905223843	0.03243	0.310707658529	0.12013	T	0.065466	0.32696	T	-0.212672	0.19005	T	-0.527779	0.19508	T	0.311687797307968	0.25484	T	0.629237	0.24427	T	0.069557264	0.15247	0.083015196	0.18992	0.069557264	0.15247	0.083015196	0.18992	-5.663	0.43363	T	.	.	0.126	0.26731	B	.	.	2.812964	0.37040	20.4	0.9879614685179785	0.46381	0.83941	0.43030	D	AEFDBI	0.236845	0.35923	N	0.00545307198755172	0.42102	2.530547	0.0641059176471127	0.42758	2.591962	0.997758850775621	0.35989	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.37	4.5	0.54382	2.495000	0.44997	1.735000	0.28356	0.599000	0.40250	0.927000	0.32177	0.161000	0.23262	0.942000	0.48361	0.0:0.8504:0.0:0.1496	11.023	0.46942	813	0.42397	Cysteine-rich flanking region, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1573.98	37	chr3	151449185	.	C	T	1573.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=926;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.81;ReadPosRankSum=1.07;SOR=0.693	GT:AD:DP:GQ:PL	0/1:57,57:114:99:1588,0,1456	20	0	1	0
chr3	151740821	151740821	G	A	exonic	AADACL2	.	nonsynonymous SNV	AADACL2:NM_207365:exon2:c.G314A:p.R105Q,	.	.	425	1096	1	0	0	1	0.000455996	.	.	2680772	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.917	P	0.298	B	0.000	D	0.971	N	2.435	M	0.3	T	-0.766	T	0.184	T	0.493	3.943	20.2	-0.969	-0.370	1.619	13.735	0.250	0.00633583175765	.	0.000199681	8.243e-05	0	8.657e-05	0	0	0.0001	0.0022	0	0.0001035	16	154602	rs183697499	7.594e-05	7.593e-05	7.76e-05	7.426e-05	0.0003	6.424e-05	6.005e-05	0.0001	9.194e-05	0	0.0002	0.0007	0	0	0.0003	5.666e-05	0.0002	9.275e-05	0.0002	0.0002	0.0002	0.0002	0.0011	0.0001	0.0001	0.0007	0.0006	4.811e-05	0	0.0011	0.0006	0	0	0	5.882e-05	0.0014	0.0002	0.039	0.42487	D	0.097	0.39190	T	0.917	0.50750	P	0.298	0.40966	B	0.000016	0.62929	D	0.110868	0.970879	0.25682	N	2.11	0.58565	M	0.3	0.58755	T	-1.89	0.44094	N	0.42	0.45992	-0.7658	0.57088	T	0.184	0.53225	T	10	0.07541293	0.11651	T	0.006336	0.16639	T	0.250	0.55888	.	.	0.170165803431	0.16609	0.46107983418462656	0.46025	0.0788922733876	0.08879	0.427628099918	0.28884	T	0.126802	0.45342	T	-0.238552	0.15533	T	-0.295726	0.45173	T	0.177709594368935	0.19089	T	.	.	.	0.33980507	0.56264	0.29472706	0.55503	0.33980507	0.56264	0.29472706	0.55502	-8.762	0.66152	D	.	.	0.172	0.37820	B	.	.	3.602805	0.50895	23.0	0.99782560645226437	0.86955	0.57846	0.30484	D	AEFDBI	0.100413	0.20191	N	-0.151453583896419	0.35174	2.016955	-0.280314946276236	0.28746	1.605228	0.0102155809037505	0.11986	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.49	-0.969	0.09783	2.028000	0.40709	0.197000	0.15809	0.618000	0.50648	1.000000	0.71638	0.000000	0.08366	0.916000	0.45140	0.0637:0.5446:0.3917:0.0	13.735	0.62295	868	0.31772	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	376.98	34	chr3	151740821	.	G	A	376.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=749;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.69;ReadPosRankSum=-1.024e+00;SOR=0.622	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1121	20	0	1	0
chr3	154122017	154122017	T	A	exonic	ARHGEF26	.	nonsynonymous SNV	ARHGEF26:NM_001251962:exon2:c.T25A:p.F9I	.	.	427	1033	57	5	0	67	0.0314112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.001	B	0.003	B	0.000	D	0.559	D	0.695	N	2.04	T	-1.012	T	0.071	T	0.153	3.503	17.90	2.38	0.653	0.634	5.602	0.024	.	0.0067	0.00738818	0.0098	0.0017	0.0036	0	0.0062	0.0101	0.0129	0.0262	0.0091267	1411	154602	rs139430962	0.0097	0.0097	0.0091	0.0104	0.0245	0.0096	0.0095	0.0237	0.0233	0.0012	0.0043	0.0010	5.11e-05	0.0066	0.0212	0.0097	0.0089	0.0245	0.0067	0.0067	0.0064	0.0070	0.0278	0.0064	0.0062	0.0240	0.0225	0.0013	0.0011	0.0061	0.0020	0.0002	0.0045	0.0136	0.0098	0.0076	0.0278	0.0	0.91255	D	0.096	0.52060	T	0.001	0.07471	B	0.001	0.04355	B	0.000190	0.48115	D	0.140928	0.558637	0.32194	D	1.78	0.46185	L	0.23	0.64630	T	-0.91	0.30762	N	0.233	0.38438	-1.0122	0.26228	T	0.071	0.28871	T	10	0.003982842	0.00077	T	.	.	.	0.024	0.04979	.	.	0.459818148978	0.45609	0.13923310431093144	0.13846	0.121683234402	0.13713	0.574688792229	0.49339	T	0.002676	0.02065	T	-0.420583	0.01696	T	-0.359329	0.38131	T	0.0941204471095192	0.11697	T	0.592841	0.22456	T	0.54745376	0.69814	0.28995273	0.55016	0.54745376	0.69815	0.28995273	0.55015	-3.511	0.16600	T	.	.	0.076	0.37159	B	.;.;.;.	.;.;.;.	2.139647	0.27245	17.40	0.98046948600260686	0.37835	0.71905	0.35217	D	AEFDGBCIJ	0.150255	0.27451	N	-0.463189237740392	0.23295	1.249935	-0.320018905430494	0.27452	1.523414	0.999999999235656	0.74766	0.72623	0.87236	0	0.596491	0.49125	0	0.594344	0.31042	0	0.618803	0.45993	0	.	.	4.79	2.38	0.28415	0.882000	0.27824	-0.375000	0.09580	0.665000	0.62972	0.997000	0.40164	0.000000	0.08366	0.967000	0.53440	0.1533:0.0862:0.0:0.7605	5.602	0.16638	758	0.50837	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	5680.68	35	chr3	154122017	.	T	A	5680.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.523e+00;DP=1115;ExcessHet=0.3300;FS=0.517;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=-2.990e-01;SOR=0.655	GT:AD:DP:GQ:PL	0/1:74,71:145:99:1654,0,1980	18	0	3	0
chr3	154122651	154122651	T	A	exonic	ARHGEF26	.	nonsynonymous SNV	ARHGEF26:NM_001251962:exon2:c.T659A:p.L220Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.983	D	0.799	P	0.020	N	1.000	N	0.805	L	2.11	T	-0.978	T	0.151	T	0.373	1.738	11.77	5.04	1.878	0.898	7.605	0.130	0.046036142641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.589	0.08594	T	0.983	0.60381	D	0.694	0.53938	P	0.019636	0.27215	N	0.298102	1	0.08975	N	1.935	0.51832	L	0.34	0.62459	T	-1.12	0.34795	N	0.187	0.27792	-0.9777	0.35526	T	0.151	0.47926	T	10	0.16086826	0.30189	T	0.046036	0.62267	D	0.130	0.35528	0.209	0.12639	0.514299272149	0.51072	0.35687861656628456	0.35601	0.105421430859	0.11918	0.451393961906	0.32134	T	0.001575	0.01012	T	-0.0336616	0.46883	T	-0.286129	0.46174	T	0.616129398345947	0.37048	D	0.719828	0.34112	T	0.27985018	0.51034	0.24820176	0.50366	0.27985018	0.51034	0.24820176	0.50365	-2.852	0.10508	T	.	.	0.073	0.28057	B	.;.;.;.	.;.;.;.	2.639800	0.34344	19.60	0.98399974122908818	0.41052	0.47622	0.28024	N	AEFBCI	0.097924	0.19743	N	0.0129925985260795	0.42445	2.557575	-0.0232631298153767	0.38666	2.281353	0.999986849368868	0.51787	0.652421	0.48094	0	0.563428	0.19063	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	5.04	5.04	0.67293	0.629000	0.24229	2.254000	0.31710	0.665000	0.62972	0.952000	0.33172	1.000000	0.68203	0.937000	0.47636	0.0:0.1633:0.0:0.8367	7.605	0.27267	758	0.50837	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1429.98	37	chr3	154122651	.	T	A	1429.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.030e-01;DP=920;ExcessHet=0.0000;FS=1.341;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.51;ReadPosRankSum=-1.585e+00;SOR=0.766	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr3	154225872	154225872	C	T	exonic	ARHGEF26	.	nonsynonymous SNV	ARHGEF26:NM_001251962:exon11:c.C1952T:p.S651F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.997	D	0.000	D	1.000	D	3.005	M	-0.19	T	0.166	D	0.525	D	0.812	4.580	24.9	5.54	2.580	7.707	19.485	0.633	0.183099752464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.879e-07	6.84e-07	0	1.383e-06	2.544e-05	0	0	.	.	0	0	0	2.544e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	0.999	0.77913	D	0.997	0.86255	D	0.000001	0.62929	D	0.060094	1	0.81001	D	3.115	0.87836	M	-0.19	0.65931	T	-5.55	0.86222	D	0.815	0.85449	0.166	0.85335	D	0.525	0.82312	D	10	0.86479807	0.85717	D	0.183	0.85663	D	0.633	0.85924	0.483	0.56462	0.837653044268	0.83610	0.584576873811577	0.58387	0.444389301464	0.44348	0.796256542206	0.81393	T	0.395	0.75370	T	0.241025	0.77758	D	0.108439	0.77469	D	0.998419046401978	0.94084	D	0.961904	0.88706	D	0.7883239	0.83168	0.74892443	0.85159	0.7883239	0.83170	0.74892443	0.85160	-13.85	0.92560	D	.	.	0.996	0.96223	P	.;.;.	.;.;.	5.334446	0.89519	30	0.99800882374201971	0.88550	0.99001	0.89785	D	AEFBI	0.927146	0.90936	D	0.935908050485537	0.93406	12.01751	0.888429138375487	0.95047	13.26558	0.9999999999392	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.54	5.54	0.82907	7.794000	0.84430	7.574000	0.60786	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.485	0.95018	886	0.28090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1495.98	35	chr3	154225872	.	C	T	1495.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.05;DP=816;ExcessHet=0.0000;FS=0.792;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.98;ReadPosRankSum=0.539;SOR=0.811	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1620	20	0	1	0
chr3	155482091	155482091	G	C	exonic	PLCH1	.	nonsynonymous SNV	PLCH1:NM_001130960:exon23:c.C3959G:p.T1320S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.0	B	0.003	B	0.370	N	1.000	N	0.695	N	-1.05	T	-0.937	T	0.242	T	0.1	1.175	9.781	-1.38	-0.196	0.382	9.166	0.135	0.0168936645182	7.7e-05	.	6.602e-05	0	0	0	0	0.0001	0	0	7.76e-05	12	154602	rs143608009	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	5.974e-05	0	3.826e-05	0	0	0.0002	0.0002	0.0001	0	3.286e-05	3.284e-05	2.57e-05	4.036e-05	5.881e-05	1.261e-05	7.98e-06	1.972e-05	1.125e-05	2.413e-05	0	0	0	0	0	0	5.881e-05	0	0	0.446	0.09101	T	0.794	0.04155	T	0.0	0.02946	B	0.001	0.08700	B	0.369596	0.04354	N	1.387750	1	0.08975	N	0.69	0.16971	N	-1.05	0.76690	T	-0.49	0.15578	N	0.068	0.04072	-0.9374	0.43025	T	0.242	0.61000	T	10	0.05170071	0.05091	T	0.016894	0.38356	T	0.135	0.36572	0.159	0.06287	0.828372505549	0.82674	0.13168003618366847	0.13093	0.0412759212422	0.04428	0.212326183915	0.00914	T	0.029744	0.21243	T	-0.351583	0.04629	T	-0.506133	0.21712	T	0.0135514363646507	0.00249	T	0.448055	0.12582	T	0.026054442	0.01615	0.024807606	0.00507	0.026054442	0.01615	0.024807606	0.00507	-2.76	0.08221	T	.	.	0.090	0.12512	B	.;.;.	.;.;.	-0.357842	0.02376	0.261	0.66869101108231066	0.08185	0.07738	0.13738	N	AEFBI	0.141305	0.26344	N	-1.06061737892279	0.07380	0.3426916	-1.04526359759286	0.08806	0.434785	0.122750728016999	0.16921	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.49	-1.38	0.08554	0.352000	0.19851	0.379000	0.17760	-0.161000	0.11593	0.002000	0.15269	0.000000	0.08366	0.280000	0.24017	0.0:0.2733:0.1581:0.5686	9.166	0.36211	742	0.52873	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2235.98	33	chr3	155482091	.	G	C	2235.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=851;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=-9.600e-01;SOR=0.699	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1136	20	0	1	0
chr3	155828301	155828301	A	G	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001363883:exon4:c.T1253C:p.I418T	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	49	1468	5	0	0	5	0.0017001	.	.	1025070	Hereditary_spastic_paraplegia_42|Spastic_paraplegia|Hereditary_spastic_paraplegia	MONDO:MONDO:0012928,MedGen:C2675528,OMIM:612539,Orphanet:171863|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.924	P	0.776	P	0.000	D	1.000	D	2.435	M	-0.75	T	0.095	D	0.531	D	0.596	4.417	23.4	5.78	2.213	9.194	16.147	0.573	0.0589906039522	.	.	0.0003	0	0	0	0.0003	0.0001	0	0.0017	3.84e-05	1	26028	rs777143987	0.0002	0.0002	0.0001	0.0002	0.0016	0.0001	0.0001	0.0014	0.0013	0	0	0.0004	0	5.617e-05	0.0003	5.522e-05	0.0002	0.0016	0.0001	0.0001	8.998e-05	0.0001	0.0012	7.574e-05	6.279e-05	0.0005	0.0004	2.406e-05	0	6.54e-05	0.0006	0.0002	0.0002	0	7.352e-05	0	0.0012	0.006	0.61437	D	0.01	0.69154	D	0.924	0.51285	P	0.776	0.57120	P	0.000012	0.62929	D	0.151423	0.999995	0.58761	D	3.06	0.86941	M	-0.75	0.73311	T	-3.42	0.69236	D	0.343	0.62866	0.095	0.84088	D	0.531	0.82583	D	10	0.17611331	0.32579	T	0.058991	0.67511	D	0.573	0.82686	.	.	0.954973333196	0.95449	0.6529530620074152	0.65231	1.0569488423	0.76337	0.564400911331	0.47888	T	0.473844	0.80554	T	-0.181594	0.23500	T	-0.0526382	0.66841	D	0.324891849586662	0.26019	T	0.865813	0.57527	D	0.3343199	0.55823	0.42749006	0.66493	0.3343199	0.55823	0.42749006	0.66493	-7.392	0.56848	T	0.557821285537123	0.62581	0.103	0.33481	B	.;.;.;.;.	.;.;.;.;.	4.555415	0.71734	25.7	0.99845598202370622	0.92576	0.97535	0.75383	D	AEFGBCI	0.891394	0.82732	D	0.784201918926261	0.85109	8.478733	0.790676131676835	0.89136	9.853294	0.999999999998371	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.608884	0.39905	0	0.727631	0.95156	0	.	.	5.78	5.78	0.91418	9.181000	0.94000	11.264000	0.91177	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	16.147	0.81393	852	0.35056	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1187.98	34	chr3	155828301	.	A	G	1187.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.273e+00;DP=764;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.91;MQRankSum=-2.600e-02;QD=13.35;ReadPosRankSum=-1.160e-01;SOR=0.760	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1237	20	0	1	0
chr3	155853645	155853645	G	A	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353T:p.P118L	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2825036	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.69	H	-1.41	T	0.779	D	0.787	D	0.924	5.278	33	5.57	2.788	7.646	19.982	0.916	0.180330631785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-9.7	0.98602	D	0.933	0.93841	0.779	0.94149	D	0.787	0.92761	D	10	0.9592407	0.95314	D	0.180331	0.85482	D	0.916	0.97814	0.831	0.94042	0.971361032142	0.97104	0.9490389787202539	0.94886	2.26454559714	0.96209	0.848731040955	0.89423	D	0.814515	0.95400	D	0.434457	0.91756	D	0.386291	0.91653	D	0.999908089637756	0.99629	D	0.999721	0.99933	D	0.9729656	0.98529	0.93255115	0.97270	0.9729656	0.98529	0.93255115	0.97270	-13.696	0.92027	D	0.9927983798285628	0.99830	0.978	0.91951	P	.;.;.;.	.;.;.;.	5.608546	0.92513	32	0.9991421996857478	0.98309	0.83916	0.43007	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3235	3698.37	37	chr3	155853645	.	G	A,C	3698.37	.	AC=2,9;AF=0.059,0.265;AN=34;BaseQRankSum=-3.879e+00;DP=2059;ExcessHet=7.7275;FS=226.061;InbreedingCoeff=-0.4474;MLEAC=2,10;MLEAF=0.059,0.294;MQ=60.00;MQRankSum=0.00;QD=2.91;ReadPosRankSum=1.31;SOR=11.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:78,14,38:130:99:.:.:693,200,2278,0,2049,2076	6	0	2	4
chr3	155853645	155853645	G	C	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353G:p.P118R	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1016191	Hereditary_spastic_paraplegia_42	MONDO:MONDO:0012928,MedGen:C2675528,OMIM:612539,Orphanet:171863	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.69	H	-1.41	T	0.779	D	0.787	D	0.955	4.886	28.0	5.57	2.788	7.646	19.982	0.936	0.221168805032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0016	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0009	0	0.0003	0.0002	0	0.0002	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-8.72	0.97670	D	0.955	0.96416	0.779	0.94149	D	0.787	0.92761	D	10	0.9656291	0.96041	D	0.221169	0.87793	D	0.936	0.98563	0.852	0.95318	0.981310105081	0.98110	0.9652344313428964	0.96510	2.3006740423	0.96469	0.845638930798	0.88955	D	0.814515	0.95400	D	0.434482	0.91756	D	0.386327	0.91654	D	0.999483108520508	0.97590	D	0.999658	0.99877	D	0.97771263	0.98930	0.9704348	0.99484	0.97771263	0.98930	0.9704348	0.99484	-15.861	0.97545	D	0.9924786288168476	0.99821	0.997	0.97160	P	.;.;.;.	.;.;.;.	5.657968	0.92855	33	0.99869421297510097	0.94726	0.91924	0.54558	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3235	3698.37	37	chr3	155853645	.	G	A,C	3698.37	.	AC=2,9;AF=0.059,0.265;AN=34;BaseQRankSum=-3.879e+00;DP=2059;ExcessHet=7.7275;FS=226.061;InbreedingCoeff=-0.4474;MLEAC=2,10;MLEAF=0.059,0.294;MQ=60.00;MQRankSum=0.00;QD=2.91;ReadPosRankSum=1.31;SOR=11.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:78,14,38:130:99:.:.:693,200,2278,0,2049,2076	6	0	2	4
chr3	155853646	155853646	G	A	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C352T:p.P118S	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.345	M	-1.38	T	0.736	D	0.747	D	0.921	4.706	26.1	4.67	1.443	9.529	16.551	0.884	0.26441884066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	3.19	0.88972	M	-1.38	0.80301	T	-7.83	0.96005	D	0.908	0.90932	0.736	0.93619	D	0.747	0.91359	D	10	0.9726635	0.96917	D	0.264419	0.89636	D	0.884	0.96614	0.878	0.96734	0.965889320013	0.96552	0.9090685925036052	0.90880	2.253141148	0.96121	0.804085373878	0.82587	D	0.791811	0.94599	D	0.429981	0.91531	D	0.379861	0.91426	D	0.999662041664124	0.98390	D	0.999705	0.99908	D	0.9068161	0.92000	0.9047807	0.95316	0.9068161	0.92001	0.9047807	0.95317	-12.527	0.87323	D	0.973445658806593	0.99205	0.989	0.94165	P	.;.;.;.	.;.;.;.	5.407850	0.90534	31	0.99921391491893274	0.98787	0.94332	0.60828	D	AEFDBCI	.	.	.	0.924929507467059	0.92926	11.71334	0.845487219852171	0.92750	11.60935	0.999999999962498	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	4.67	0.58089	9.628000	0.97812	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.1307:0.8693:0.0	16.551	0.84321	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	636.11	37	chr3	155853646	.	G	A	636.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.810e+00;DP=1180;ExcessHet=0.1072;FS=236.570;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=2.78;ReadPosRankSum=1.31;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:113,0:113:52:.:.:0,52,2202	19	0	2	0
chr3	157045559	157045559	G	A	exonic	LEKR1	.	nonsynonymous SNV	LEKR1:NM_001004316:exon13:c.G1888A:p.G630R,	.	.	434	1087	1	0	0	1	0.00045977	.	.	2377738	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.29	T	0.105	B	0.148	B	0.073	N	1.000	N	1.01	L	0.57	T	-0.995	T	0.116	T	0.162	2.421	14.06	2.16	0.142	1.128	9.742	0.044	0.01846712278	7.7e-05	0.000199681	0.0001	9.61e-05	0	0	0	0.0003	0	0	0.0001229	19	154602	rs200609443	9.645e-05	9.645e-05	0.0001	9.076e-05	0.0033	8.309e-05	7.849e-05	0.0022	0.0018	5.974e-05	4.473e-05	0	0	0	0.0033	7.194e-05	0.0004	0.0002	8.54e-05	8.531e-05	8.998e-05	8.061e-05	0.0004	4.956e-05	3.962e-05	7.301e-05	3.34e-05	2.407e-05	0	6.543e-05	0	0	0	0.0068	0.0001	0	0.0004	0.225	0.19430	T	0.365	0.16717	T	0.105	0.25993	B	0.148	0.34065	B	0.072951	0.21377	N	0.398080	1	0.08975	N	1.26	0.31868	L	0.57	0.55090	T	-1.63	0.43906	N	0.139	0.13769	-0.9945	0.31432	T	0.116	0.40986	T	10	0.039067954	0.02369	T	0.018467	0.40544	T	0.044	0.11924	0.142	0.04556	0.279776271856	0.27574	.	.	.	.	0.247266665101	0.03485	T	0.009596	0.08729	T	-0.387762	0.02781	T	-0.504627	0.21868	T	0.0553374625742435	0.06413	T	0.579842	0.20971	T	0.04246965	0.06447	0.08236295	0.18792	0.04246965	0.06447	0.08236295	0.18791	.	.	.	.	.	0.114	0.22500	B	.;.	.;.	0.951541	0.13275	9.778	0.9885719628058085	0.47407	0.25341	0.22669	N	AEFDBI	0.086745	0.17589	N	-0.717458118748436	0.15531	0.7835195	-0.730121612085992	0.16212	0.8565729	0.999887518585434	0.44867	0.541725	0.22260	1	0.573888	0.26702	0	0.459889	0.06779	1	0.530356	0.10902	0	.	.	4.94	2.16	0.26663	1.228000	0.32190	3.118000	0.36388	-0.111000	0.15049	0.079000	0.22314	0.551000	0.25468	0.517000	0.29406	0.2329:0.0:0.7671:0.0	9.742	0.39589	675	0.60470	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2435.98	34	chr3	157045559	.	G	A	2435.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.913;DP=855;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.50;ReadPosRankSum=-7.820e-01;SOR=0.689	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	20	0	1	0
chr3	157381267	157381267	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1016G:p.S339C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.016	B	0.006	B	0.008	N	1.000	D	1.1	L	3.02	T	-1.085	T	0.025	T	0.19	1.903	12.32	5.47	2.569	1.889	10.655	0.047	0.00405651869442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.706e-05	0.0015	3.271e-05	2.14e-05	3.398e-05	2.012e-05	1.762e-05	2.487e-05	2.207e-05	3.089e-05	0	0	0	0	0	3.398e-05	1.71e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.094	0.39799	T	0.016	0.17332	B	0.006	0.12133	B	0.007582	0.31308	N	0.359250	0.787702	0.29261	N	1.43	0.35840	L	3.01	0.09075	T	-1.91	0.46337	N	0.318	0.36674	-1.0854	0.06335	T	0.025	0.10464	T	10	0.14302394	0.27159	T	0.004057	0.09681	T	0.047	0.12962	0.413	0.45052	0.203808441222	0.19973	0.21481885595038	0.21397	0.0389899136919	0.04147	0.438936650753	0.30431	T	0.149031	0.48786	T	-0.240838	0.15241	T	-0.583723	0.14213	T	0.213982076796247	0.21159	T	0.79972	0.44511	T	0.09153386	0.21449	0.07893088	0.17725	0.09153386	0.21449	0.07893088	0.17725	-7.287	0.56309	T	.	.	0.085	0.11269	B	.;.;.	.;.;.	3.162719	0.42862	21.6	0.91500678835389826	0.20774	0.88574	0.48565	D	AEFDBI	0.301950	0.41033	N	-0.0840343711138489	0.38093	2.225797	0.083874411417393	0.43736	2.669398	0.99938992129566	0.39415	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	1.981000	0.40250	9.905000	0.82381	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.848000	0.40082	0.0:0.1414:0.7122:0.1463	10.655	0.44865	734	0.53889	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	6359.01	153	chr3	157381267	.	G	C	6359.01	.	AC=8;AF=0.250;AN=32;BaseQRankSum=-4.595e+00;DP=3537;ExcessHet=3.5521;FS=96.014;InbreedingCoeff=-0.3383;MLEAC=10;MLEAF=0.313;MQ=60.00;MQRankSum=0.00;QD=3.69;ReadPosRankSum=1.96;SOR=11.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,47:214:99:0|1:157381266_G_C:1380,0,6784:157381266	8	0	8	5
chr3	157381269	157381269	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1014G:p.F338L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.986	D	0.716	P	0.000	D	1.000	D	1.78	L	2.87	T	-1.157	T	0.050	T	0.611	2.725	15.07	4.6	1.319	7.223	13.320	0.234	0.00696849747109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.197e-05	0.0013	1.98e-05	2.414e-05	2.814e-05	1.574e-05	1.372e-05	1.996e-05	1.733e-05	0	0	0	0	0	0	2.814e-05	1.703e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.075	0.43344	T	0.986	0.61523	D	0.716	0.54713	P	0.000000	0.84330	D	0.052188	0.999883	0.50402	D	1.79	0.46772	L	2.8	0.11082	T	-2.64	0.60827	D	0.629	0.64308	-1.1573	0.00823	T	0.050	0.21300	T	10	0.65501356	0.69822	D	0.006968	0.18458	T	0.234	0.53644	0.566	0.68768	0.380052290102	0.37618	0.540766503490007	0.54001	0.0497134926514	0.05451	0.693336129189	0.66186	T	0.39328	0.75273	T	-0.0694684	0.41412	T	-0.337563	0.40622	T	0.937143862247467	0.60670	D	0.890411	0.63503	D	0.3446262	0.56645	0.22055541	0.46835	0.3446262	0.56645	0.22055541	0.46834	-10.426	0.76421	D	.	.	0.981	0.91639	P	.;.;.	.;.;.	4.365249	0.67160	25.1	0.99181655721304818	0.54701	0.98496	0.83394	D	AEFDBI	0.895770	0.83615	D	0.298767961957114	0.56086	3.772896	0.29353445057777	0.55160	3.679457	0.999999819584022	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	4.6	0.56512	7.371000	0.78858	5.894000	0.50799	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.814000	0.38357	0.0755:0.0:0.9245:0.0	13.320	0.59864	734	0.53889	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2353	6222.97	159	chr3	157381269	.	G	C	6222.97	.	AC=8;AF=0.235;AN=34;BaseQRankSum=-6.295e+00;DP=3622;ExcessHet=3.5521;FS=94.732;InbreedingCoeff=-0.3126;MLEAC=9;MLEAF=0.265;MQ=60.00;MQRankSum=0.00;QD=3.60;ReadPosRankSum=1.96;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,47:217:99:0|1:157381266_G_C:1371,0,6918:157381266	9	0	8	4
chr3	157381272	157381276	GGTGT	-	exonic	VEPH1	.	frameshift deletion	VEPH1:NM_001167911:exon7:c.1007_1011del:p.D336Vfs*24	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	5793.21	203	chr3	157381271	.	AGGTGT	A,AT	5793.21	.	AC=5,3;AF=0.119,0.071;AN=42;BaseQRankSum=-3.886e+00;DP=4123;ExcessHet=3.5521;FS=94.048;InbreedingCoeff=-0.2353;MLEAC=5,3;MLEAF=0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=3.32;ReadPosRankSum=2.17;SOR=11.277	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:172,47,0:219:99:0|1:157381266_G_C:1364,0,6997,1882,7138,9020:157381266	13	0	5	0
chr3	157381272	157381275	GGTG	-	exonic	VEPH1	.	frameshift deletion	VEPH1:NM_001167911:exon7:c.1008_1011del:p.T337Sfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	0.0002	1.363e-06	2.754e-06	2.702e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.702e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	5793.21	203	chr3	157381271	.	AGGTGT	A,AT	5793.21	.	AC=5,3;AF=0.119,0.071;AN=42;BaseQRankSum=-3.886e+00;DP=4123;ExcessHet=3.5521;FS=94.048;InbreedingCoeff=-0.2353;MLEAC=5,3;MLEAF=0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=3.32;ReadPosRankSum=2.17;SOR=11.277	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:172,47,0:219:99:0|1:157381266_G_C:1364,0,6997,1882,7138,9020:157381266	13	0	5	0
chr3	157381275	157381275	G	0	exonic	VEPH1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1191.7	160	chr3	157381275	.	G	*,GCCCC	1191.7	.	AC=3,3;AF=0.107,0.107;AN=28;BaseQRankSum=-1.117e+00;DP=3156;ExcessHet=1.7912;FS=101.214;InbreedingCoeff=-0.3105;MLEAC=4,4;MLEAF=0.143,0.143;MQ=60.00;MQRankSum=0.00;QD=0.88;ReadPosRankSum=0.952;SOR=10.970	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:172,47,0:219:99:0|1:157381266_G_C:1364,0,6997,1882,7138,9020:157381266	8	0	3	7
chr3	157381275	157381275	-	CCCC	exonic	VEPH1	.	frameshift insertion	VEPH1:NM_001167911:exon7:c.1007_1008insGGGG:p.D336Efs*27	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1191.7	160	chr3	157381275	.	G	*,GCCCC	1191.7	.	AC=3,3;AF=0.107,0.107;AN=28;BaseQRankSum=-1.117e+00;DP=3156;ExcessHet=1.7912;FS=101.214;InbreedingCoeff=-0.3105;MLEAC=4,4;MLEAF=0.143,0.143;MQ=60.00;MQRankSum=0.00;QD=0.88;ReadPosRankSum=0.952;SOR=10.970	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:172,47,0:219:99:0|1:157381266_G_C:1364,0,6997,1882,7138,9020:157381266	8	0	3	7
chr3	157381276	157381276	-	CCCCC	exonic	VEPH1	.	frameshift insertion	VEPH1:NM_001167911:exon7:c.1006_1007insGGGGG:p.D336Gfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1389	3552.87	37	chr3	157381276	.	T	TCCCCC	3552.87	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-4.087e+00;DP=2099;ExcessHet=1.1607;FS=91.920;InbreedingCoeff=-0.1831;MLEAC=6;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=3.43;ReadPosRankSum=2.44;SOR=10.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,47:215:99:0|1:157381266_G_C:1376,0,6836:157381266	13	0	5	3
chr3	157413962	157413962	C	T	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon6:c.G825A:p.M275I	.	.	429	1082	11	0	0	11	0.00505747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.002	B	0.005	B	0.225	N	0.859	D	0	N	1.34	T	-1.067	T	0.045	T	0.277	1.455	10.81	2.64	0.808	0.047	9.641	0.013	0.00594174699308	0.0002	0.000599042	0.0005	9.612e-05	0.0012	0.0001	0	0.0006	0	0.0002	0.0005175	80	154602	rs138076442	0.0003	0.0003	0.0003	0.0003	0.0071	0.0003	0.0003	0.0054	0.0048	0.0004	0.0018	0.0025	2.52e-05	0	0.0071	0.0002	0.0008	0.0002	0.0005	0.0005	0.0004	0.0006	0.0023	0.0004	0.0004	0.0017	0.0015	0	0	0.0023	0.0020	0	0	0.0068	0.0004	0.0028	0	0.179	0.22053	T	0.184	0.29153	T	0.001	0.09854	B	0.005	0.11217	B	0.225333	0.16042	N	0.688594	0.999945	0.19238	N	1.5	0.37844	L	1.34	0.34841	T	-1.08	0.29323	N	0.205	0.22742	-1.0671	0.10062	T	0.045	0.19478	T	10	0.010435283	0.00232	T	0.005942	0.15490	T	0.013	0.01715	0.357	0.35897	0.154104182512	0.14974	0.19820049485936922	0.19737	0.04113773009	0.04411	0.252716243267	0.04059	T	0.047387	0.27709	T	-0.50255	0.00553	T	-0.501919	0.22148	T	0.00991216866297663	0.00132	T	0.732927	0.35246	T	0.062552586	0.13077	0.11330097	0.27344	0.062552586	0.13076	0.11330097	0.27344	-2.927	0.10052	T	.	.	0.169	0.38836	B	.;.;.	.;.;.	1.026808	0.14066	10.64	0.934377816066846	0.23214	0.06946	0.12972	N	AEFBI	0.071730	0.14291	N	-0.693150065981131	0.16216	0.8241944	-0.571294722468184	0.20243	1.089731	0.120924650400634	0.16880	0.706548	0.73137	0	0.573888	0.26702	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.8	2.64	0.30504	0.063000	0.14285	0.297000	0.16936	0.549000	0.26987	0.016000	0.19238	0.023000	0.20922	0.979000	0.57723	0.0:0.6919:0.0:0.3081	9.641	0.39002	778	0.48011	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	829.98	33	chr3	157413962	.	C	T	829.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.332e+00;DP=781;ExcessHet=0.0000;FS=1.705;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.02;ReadPosRankSum=0.896;SOR=0.510	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1217	20	0	1	0
chr3	157437630	157437630	G	C	exonic	PTX3	.	nonsynonymous SNV	PTX3:NM_002852:exon2:c.G248C:p.G83A,	.	.	429	1049	42	2	0	46	0.0214552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.001	B	0.001	B	0.035	N	1.000	N	-0.145	N	3.21	T	-0.985	T	0.012	T	0.019	0.237	5.281	1.06	0.855	1.515	7.024	0.080	.	0.0003	0.00459265	0.0132	0	0.0021	0	0	0.0056	0.0060	0.0248	0.00326	504	154602	rs148943471	0.0031	0.0032	0.0024	0.0038	0.0239	0.0030	0.0030	0.0230	0.0227	0.0003	0.0011	0.0084	2.762e-05	0.0003	0.0177	0.0017	0.0047	0.0239	0.0023	0.0023	0.0018	0.0029	0.0209	0.0021	0.0021	0.0176	0.0164	0.0005	0	0.0014	0.0081	0.0002	9.413e-05	0.0170	0.0025	0.0033	0.0209	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.035426	0.01802	N	2.026420	0.99764	0.58761	N	2.105	0.58435	M	3.21	0.07125	T	0.02	0.06739	N	0.055	0.02658	-0.9854	0.33735	T	0.012	0.04605	T	10	0.0038408637	0.00073	T	.	.	.	0.080	0.23350	.	.	0.190952846119	0.18690	0.4614426320875624	0.46062	0.247234570018	0.27269	0.649283289909	0.59884	T	0.04848	0.28029	T	-0.715397	0.00029	T	-0.78147	0.02409	T	0.00553688543206395	0.00060	T	0.592841	0.21881	T	0.030456103	0.02712	0.05540971	0.09715	0.030456103	0.02712	0.05540971	0.09714	-3.097	0.11262	T	.	.	0.088	0.11654	B	.	.	2.130164	0.27123	17.35	0.86441003015604689	0.16538	0.59410	0.30907	D	ALL	0.181830	0.30915	N	-0.680120344081012	0.16590	0.8465395	-0.518097625390096	0.21662	1.172889	0.999999997809444	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	4.18	1.06	0.19341	1.529000	0.35602	1.344000	0.25758	0.618000	0.50648	0.978000	0.35038	0.791000	0.26863	0.939000	0.47918	0.0:0.3428:0.2557:0.4015	7.024	0.24111	778	0.48011	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1599.11	38	chr3	157437630	.	G	C	1599.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.51;DP=847;ExcessHet=0.1072;FS=3.505;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.91;ReadPosRankSum=0.703;SOR=0.429	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1100	19	0	2	0
chr3	157442738	157442738	T	C	exonic	PTX3	.	nonsynonymous SNV	PTX3:NM_002852:exon3:c.T905C:p.V302A,	.	.	426	1095	0	1	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.969	D	0.832	P	0.000	D	1.000	D	2.845	M	2.89	T	-1.000	T	0.092	T	0.17	3.599	18.33	5.86	2.241	7.587	16.248	0.381	0.0268136438354	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.022	0.57587	D	0.969	0.56768	D	0.832	0.59730	P	0.000367	0.45194	D	0.198841	0.995121	0.81001	D	2.43	0.70455	M	2.89	0.10196	T	-3.19	0.64593	D	0.341	0.38232	-0.9998	0.29973	T	0.092	0.35228	T	10	0.45706624	0.59055	T	0.026814	0.49694	D	0.381	0.69863	0.725	0.85937	0.61513531927	0.61202	0.771251246932743	0.77075	0.664077401662	0.59052	0.384255051613	0.22858	T	0.202573	0.56079	T	-0.164931	0.26005	T	-0.474688	0.25012	T	0.962833523750305	0.66483	D	0.840916	0.51656	T	0.36167428	0.57964	0.3791893	0.62980	0.36167428	0.57964	0.3791893	0.62980	-8.138	0.62006	D	.	.	0.683	0.72250	P	.	.	4.531872	0.71148	25.6	0.99634010860210587	0.76203	0.96158	0.67799	D	AEFGBCI	0.815904	0.73777	D	0.581646817757659	0.72030	5.741953	0.475410305670346	0.66363	4.942557	0.999999999999814	0.74766	0.645754	0.44609	0	0.563428	0.19063	0	0.696353	0.63694	0	0.723	0.93126	0	.	.	5.86	5.86	0.93936	7.565000	0.81337	7.924000	0.74674	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.923000	0.45890	0.0:0.0:0.0:1.0	16.248	0.82278	778	0.48011	LamG-like jellyroll fold	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2119.98	40	chr3	157442738	.	T	C	2119.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.809;DP=860;ExcessHet=0.0000;FS=1.198;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=1.74;SOR=0.599	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1036	20	0	1	0
chr3	158105910	158105910	C	G	exonic	SHOX2	.	nonsynonymous SNV	SHOX2:NM_001163678:exon1:c.G115C:p.E39Q	.	.	.	.	.	.	.	.	.	.	.	2770381	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.56	T	0.996	D	0.986	D	0.003	N	1.000	D	0.345	N	1.4	T	0.405	D	0.774	D	0.55	3.921	19.94	3.51	1.963	2.734	14.328	0.190	0.587066116969	.	.	4.073e-05	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs772067593	1.517e-05	1.505e-05	4.115e-06	2.633e-05	0.0002	9.93e-06	8.48e-06	0.0002	0.0001	0	0	0	0	0	0	0	1.67e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.44694	D	0.218	0.37037	T	0.993	0.68779	D	0.968	0.76916	D	0.002738	0.36034	N	0.000000	1	0.81001	D	1.32	0.33002	L	1.4	0.33630	T	-0.51	0.15986	N	0.304	0.34336	0.405	0.89176	D	0.774	0.92321	D	10	0.27449846	0.45003	T	0.587066	0.96319	D	0.190	0.46781	0.146	0.04941	0.63898869166	0.63601	0.3559326842089999	0.35507	1.02930837497	0.75367	0.83667832613	0.87588	D	0.116592	0.43604	T	-0.246364	0.14547	T	-0.312226	0.43420	T	0.64603465795517	0.38293	D	0.784922	0.42712	T	0.1997356	0.41923	0.24640633	0.50149	0.1997356	0.41923	0.24640633	0.50148	-5.203	0.39074	T	.	.	0.150	0.40602	B	.;.;.	.;.;.	4.214477	0.63694	24.6	0.99138638595500195	0.53464	0.89536	0.50063	D	AEFDBHCIJ	0.627093	0.60967	D	0.149135960083515	0.48772	3.085343	0.17207572695832	0.48324	3.049777	0.999999999999789	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.51	3.51	0.39297	2.888000	0.48292	7.309000	0.58118	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	14.328	0.66091	554	0.71839	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1473.98	33	chr3	158105910	.	C	G	1473.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.18;DP=838;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.31;ReadPosRankSum=-7.560e-01;SOR=0.751	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1114	20	0	1	0
chr3	158665380	158665380	G	-	exonic	GFM1	.	frameshift deletion	GFM1:NM_001374358:exon9:c.965delG:p.R322Kfs*78	Combined oxidative phosphorylation deficiency 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	985200	not_provided|Hepatoencephalopathy_due_to_combined_oxidative_phosphorylation_defect_type_1|See_cases	MedGen:C3661900|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060,Orphanet:137681|.	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-06	1.368e-06	1.365e-06	1.378e-06	4.475e-05	2.3e-07	9e-08	7.42e-06	2.78e-06	0	4.475e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1161.94	34	chr3	158665379	.	AG	A	1161.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.454e+00;DP=798;ExcessHet=0.0000;FS=0.753;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=-1.009e+00;SOR=0.565	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1220	20	0	1	0
chr3	160225705	160225705	C	G	exonic	C3orf80	.	nonsynonymous SNV	C3orf80:NM_001168214:exon1:c.C70G:p.L24V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	.	.	.	.	.	.	0.991	N	0	N	.	.	-1.023	T	0.058	T	0.238	3.564	18.17	3.27	1.663	1.273	12.053	0.041	0.0218717596954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.763	0.04587	T	.	.	.	.	.	.	.	.	.	.	0.990732	0.24132	N	0	0.06538	N	.	.	.	-0.37	0.13226	N	0.315	0.35514	-1.0231	0.22704	T	0.058	0.24502	T	6	0.13441387	0.25581	T	0.021872	0.44695	T	0.041	0.10877	0.324	0.30549	0.0762999501168	0.06990	0.2609191014245777	0.26004	.	.	.	.	.	0.012616	0.11057	T	-0.0918245	0.37774	T	-0.369676	0.36927	T	0.490506115068833	0.32283	T	0.447055	0.12542	T	0.3604581	0.57871	0.6267781	0.78241	0.3604581	0.57871	0.6267781	0.78242	-6.727	0.52013	T	.	.	0.106	0.19478	B	.	.	2.452556	0.31584	18.78	0.99506101185463103	0.68322	0.79242	0.39229	D	ALL	0.236854	0.35923	N	-0.12314067541791	0.36385	2.102525	-0.0596456270733717	0.37075	2.166007	0.999999999999989	0.74766	0.437478	0.07067	0	0.491552	0.07993	0	0.503968	0.08637	0	0.603991	0.37454	0	.	.	3.27	3.27	0.36580	0.717000	0.25523	0.179000	0.15609	0.303000	0.18983	0.152000	0.23684	0.984000	0.30665	0.932000	0.46971	0.0:1.0:0.0:0.0	12.053	0.52817	353	0.85335	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	671.98	37	chr3	160225705	.	C	G	671.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.697e+00;DP=765;ExcessHet=0.0000;FS=1.249;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.00;ReadPosRankSum=-1.646e+00;SOR=0.431	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1192	20	0	1	0
chr3	160226363	160226363	G	A	exonic	C3orf80	.	nonsynonymous SNV	C3orf80:NM_001168214:exon1:c.G728A:p.R243H,	.	.	417	1088	17	0	0	17	0.00775194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.016	U	0.990	N	0.55	N	.	.	-1.008	T	0.084	T	0.304	3.214	16.77	3.61	2.018	3.317	10.027	0.206	0.151605206099	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs779121195	0.0002	0.0002	0.0002	0.0003	0.0050	0.0002	0.0002	0.0035	0.0030	7.216e-05	0.0009	0	0	0	0.0050	0.0002	0.0003	0.0013	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0004	0.0003	4.813e-05	0	0.0007	0	0	0	0	0.0002	0.0009	0.0006	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.016099	0.28070	U	0.000000	0.990121	0.24211	N	0.695	0.17993	N	.	.	.	-2.39	0.52612	N	0.204	0.22614	-1.0077	0.27634	T	0.084	0.32957	T	7	0.0732674	0.11046	T	0.151605	0.83313	D	0.206	0.49396	.	.	0.0806252709748	0.07271	0.254974724230215	0.25411	.	.	.	.	.	0.076348	0.35396	T	-0.329495	0.06150	T	-0.296514	0.45091	T	0.0890177861056498	0.11101	T	0.671933	0.28057	T	0.31470525	0.54189	0.39911166	0.64482	0.31470525	0.54189	0.39911166	0.64482	-4.961	0.36414	T	.	.	0.104	0.18950	B	.	.	3.367080	0.46514	22.3	0.99877966519008476	0.95491	0.85611	0.44762	D	AEFDBCI	0.203752	0.33024	N	0.0670250979098948	0.44930	2.758149	0.101940144588578	0.44648	2.742463	0.999492229685924	0.40007	0.455138	0.09556	0	0.491552	0.07993	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	3.61	3.61	0.40494	3.213000	0.50855	4.541000	0.43764	0.561000	0.28422	1.000000	0.71638	1.000000	0.68203	0.400000	0.26782	0.0:0.3492:0.6507:0.0	10.027	0.41249	353	0.85335	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	530.98	40	chr3	160226363	.	G	A	530.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.935e+00;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.35;ReadPosRankSum=0.549;SOR=0.600	GT:AD:DP:GQ:PL	0/0:40,0:40:90:0,90,1350	20	0	1	0
chr3	160279203	160279203	C	T	exonic	IFT80	.	nonsynonymous SNV	IFT80:NM_001190242:exon15:c.G1415A:p.R472H	Short-rib thoracic dysplasia 2 with or without polydactyly, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1506664	Asphyxiating_thoracic_dystrophy_2|Jeune_thoracic_dystrophy|Inborn_genetic_diseases	MONDO:MONDO:0012644,MedGen:C1970005,OMIM:611263,Orphanet:474|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.999	D	0.828	P	0.000	U	1.000	D	2.99	M	-1.65	D	0.580	D	0.743	D	0.628	5.402	34	6.16	2.937	6.572	20.860	0.488	0.0466046143903	.	0.000399361	0.0002	0	0	0	0	6.024e-05	0	0.0015	0.000194	30	154602	rs540494495	0.0001	0.0001	5.859e-05	0.0002	0.0012	9.543e-05	9.023e-05	0.0010	0.0010	0	0.0003	0	0	3.746e-05	0.0002	1.44e-05	0.0004	0.0012	0.0002	0.0002	9.006e-05	0.0003	0.0017	0.0002	0.0001	0.0012	0.0010	0	0	0.0017	0	0	0	0	1.471e-05	0	0.0010	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.828	0.59497	P	0.000013	0.62929	U	0.000000	1	0.81001	D	3.145	0.88303	M	-1.65	0.82625	D	-4.79	0.80595	D	0.452	0.50056	0.580	0.91633	D	0.743	0.91234	D	10	0.09273207	0.16354	T	0.046605	0.62536	D	0.488	0.77592	0.608	0.74063	0.973651426202	0.97337	0.7351218363354969	0.73457	0.709233933603	0.61606	0.680535495281	0.64345	T	0.656945	0.89657	D	-0.110427	0.34697	T	0.0553734	0.73938	D	0.249197751955647	0.22837	T	0.956054	0.86917	D	0.5505063	0.69984	0.53923684	0.73371	0.59452665	0.72396	0.53239524	0.72981	-10.814	0.78628	D	0.6112148087879712	0.67882	0.168	0.44656	B	.;.;.	.;.;.	5.640140	0.92738	33	0.9993809597529355	0.99698	0.97181	0.73167	D	AEFBI	0.797111	0.72404	D	0.919338230292754	0.92674	11.56134	0.904705048149724	0.95774	13.95488	0.999999258883939	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	6.16	6.16	0.99302	6.651000	0.74224	7.607000	0.61769	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.860	0.99763	354	0.85282	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	372.98	33	chr3	160279203	.	C	T	372.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.400e-02;DP=733;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.10;ReadPosRankSum=0.440;SOR=0.683	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1096	20	0	1	0
chr3	160366074	160366074	T	G	exonic	IFT80	.	nonsynonymous SNV	IFT80:NM_001190242:exon5:c.A107C:p.K36T	Short-rib thoracic dysplasia 2 with or without polydactyly, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.954	P	0.638	P	0.000	U	1.000	D	2.98	M	5.06	T	-0.073	T	0.430	T	0.849	4.642	25.5	5.42	2.059	7.512	15.475	0.438	0.0979167527197	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1263231149	8.899e-06	8.893e-06	5.449e-06	1.238e-05	0.0002	4.97e-06	3.83e-06	8.887e-05	7.055e-05	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.007	0.92824	D	0.954	0.54400	P	0.638	0.52030	P	0.000022	0.55875	U	0.000000	1	0.81001	D	3.11	0.87757	M	1.62	0.66652	T	-4.41	0.85617	D	0.727	0.74189	-0.0735	0.80698	T	0.430	0.77225	T	10	0.7981738	0.79259	D	0.097917	0.76854	D	0.438	0.74235	0.66	0.79791	0.844352737425	0.84286	0.5147304624343669	0.51396	0.674420272795	0.59643	0.790977120399	0.80592	T	0.607817	0.87526	D	0.14149	0.68466	D	0.202132	0.83246	D	0.885138332843781	0.53543	D	0.959604	0.92647	D	0.54508364	0.69681	0.46281505	0.68812	0.54508364	0.69682	0.46281505	0.68813	-13.56	0.91538	D	0.9090531324842362	0.95781	0.856	0.80112	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.102205	0.85261	28.5	0.99810630918327414	0.89442	0.98217	0.80630	D	AEGBIJ	0.898494	0.84185	D	0.718680782715046	0.80856	7.388184	0.702455216274892	0.82566	7.798621	0.999999997887043	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.42	5.42	0.78666	7.535000	0.80919	7.881000	0.72509	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.475	0.75199	690	0.58899	WD40-repeat-containing domain;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	619.98	33	chr3	160366074	.	T	G	619.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.642;DP=768;ExcessHet=0.0000;FS=0.900;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.27;ReadPosRankSum=3.21;SOR=0.873	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1164	20	0	1	0
chr3	160404347	160404347	T	C	exonic	SMC4	.	nonsynonymous SNV	SMC4:NM_005496:exon4:c.T530C:p.V177A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.992	D	0.91	D	0.000	D	1.000	D	2.34	M	3.32	T	-0.453	T	0.329	T	0.668	4.788	27.0	6.16	2.367	8.004	16.806	0.278	0.0229069441454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0054	0.0001	0.0001	0.0001	9.927e-05	9.386e-05	0.0001	0.0001	9.415e-05	0	3.915e-05	7.617e-05	0	0	0.0001	8.551e-05	2.42e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.032	0.54934	D	0.992	0.64738	D	0.91	0.64641	D	0.000001	0.62929	D	0.056395	1	0.81001	D	2.34	0.67151	M	2.91	0.55945	T	-3.7	0.71157	D	0.795	0.79214	-0.4533	0.70291	T	0.329	0.69682	T	9	0.70917594	0.72932	D	0.022907	0.45838	T	0.278	0.59497	0.521	0.62368	0.709883084589	0.70734	0.460518375338523	0.45969	0.58308373772	0.54039	0.600413441658	0.52963	T	0.47436	0.80584	T	0.112874	0.65647	D	-0.0756403	0.65220	T	0.978100121021271	0.72158	D	0.926107	0.81930	D	0.41292104	0.61618	0.4092579	0.65219	0.41292104	0.61618	0.4092579	0.65219	-9.197	0.69057	D	.	.	0.198	0.63267	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.808997	0.78220	26.9	0.99886819405452432	0.96204	0.99167	0.92217	D	AEFDGBIJ	0.937139	0.93449	D	0.746699790061011	0.82689	7.825052	0.770386729956323	0.87669	9.303158	0.999999999999999	0.74766	0.736574	0.97449	0	0.672317	0.65289	0	0.732669	0.93749	0	0.273489	0.05413	2	.	.	6.16	6.16	0.99302	7.982000	0.87742	7.911000	0.74030	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.806	0.85530	744	0.52588	RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;.;.;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	66.6	38	chr3	160404347	.	T	C	66.6	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.900e+00;DP=960;ExcessHet=0.1072;FS=231.547;InbreedingCoeff=-0.0435;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.41;ReadPosRankSum=0.843;SOR=7.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,102,1530	19	0	2	0
chr3	160425021	160425022	TA	-	splicing	SMC4	NM_001288753:exon16:r.spl;NM_001002800:exon16:r.spl;NM_005496:exon15:r.spl	.	.	.	.	738	782	1	0	1	2	0.000638978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0058	.	0.0004	0	0.0002	0.0020	0.0006	0.0002	0	0.0005	0.0002458	38	154602	rs749856363	0.0001	0.0004	0.0001	0.0001	0.0010	0.0001	0.0001	0.0008	0.0007	9.027e-05	0.0002	0.0004	0.0010	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	6.117e-05	0	0.0004	0.0003	0	0	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	605.94	37	chr3	160425020	.	GTA	G	605.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.370e-01;DP=776;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=24.24;ReadPosRankSum=2.36;SOR=0.551	GT:AD:DP:GQ:PL	0/0:38,0:38:87:0,87,1305	20	0	1	0
chr3	160677917	160677917	C	T	exonic	ARL14	.	stopgain	ARL14:NM_025047:exon1:c.C571T:p.Q191X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.762	U	0.925	N	.	.	.	.	.	.	.	.	.	5.588	35	5.75	2.716	0.670	14.971	.	.	.	.	1.724e-05	0	8.777e-05	0	0	1.545e-05	0	0	1.29e-05	2	154602	rs771563756	1.098e-05	1.094e-05	1.364e-05	8.283e-06	9.016e-05	6.5e-06	5.26e-06	3.001e-05	1.815e-05	0	9.016e-05	0	0	0	0	9.917e-06	1.662e-05	0	3.29e-05	3.284e-05	3.858e-05	2.695e-05	0.0003	1.262e-05	7.99e-06	0.0001	8.29e-05	0	0	0.0003	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.761877	0.06544	U	1.205560	0.925479	0.27191	N	.	.	.	.	.	.	.	.	.	0.037	0.01135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34709	0.86311	D	0.486496	0.94335	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.208983	0.97298	37	0.99620114775872926	0.75353	0.35339	0.25279	N	AEFDGBCI	0.172098	0.29911	N	0.97375554759375	0.94880	13.11734	0.822576317194873	0.91318	10.82606	0.999999999928181	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.607795	0.38427	0	0.635259	0.50027	0	.	.	5.75	5.75	0.90390	0.614000	0.24009	3.952000	0.40682	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.980000	0.58198	0.0:0.8566:0.1434:0.0	14.971	0.70884	702	0.57624	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	952.98	44	chr3	160677917	.	C	T	952.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.017e+00;DP=822;ExcessHet=0.0000;FS=2.035;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=0.592;SOR=0.412	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1208	20	0	1	0
chr3	161246391	161246391	A	C	exonic	NMD3	.	nonsynonymous SNV	NMD3:NM_001320227:exon12:c.A1073C:p.Q358P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.976	D	0.559	P	0.000	D	1.000	D	1.355	L	0.91	T	-1.023	T	0.119	T	0.875	3.398	17.47	5.01	2.187	8.322	14.607	0.266	0.0183799101804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.14546	T	0.313	0.21745	T	0.976	0.58310	D	0.559	0.49531	P	0.000000	0.84330	D	0.053698	1	0.81001	D	1.455	0.36767	L	0.91	0.45248	T	-1.93	0.45769	N	0.89	0.88909	-1.0233	0.22638	T	0.119	0.41799	T	10	0.54836357	0.64113	D	0.01838	0.40424	T	0.266	0.57999	0.378	0.39319	0.535584383668	0.53208	0.785705820462672	0.78521	0.0974444906657	0.11007	0.558967232704	0.47123	T	0.064465	0.32442	T	0.199398	0.73835	D	0.0486445	0.73494	D	0.886904776096344	0.53736	D	0.90031	0.65351	D	0.38685918	0.59808	0.42186168	0.66105	0.38685918	0.59808	0.42186168	0.66105	-6.061	0.46786	T	.	.	0.294	0.52500	B	.;.;.	.;.;.	3.847412	0.55711	23.6	0.99086284374863576	0.52100	0.98686	0.85574	D	AEFGBI	0.955470	0.97334	D	0.214421364156788	0.51898	3.367608	0.34811362888256	0.58395	4.009648	0.999999815005728	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.01	5.01	0.66477	8.456000	0.90210	11.181000	0.88313	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.607	0.68083	772	0.48957	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	357.33	35	chr3	161246391	.	A	C	357.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.775;DP=666;ExcessHet=0.0000;FS=6.186;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=14.29;ReadPosRankSum=-6.580e-01;SOR=1.718	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1115	19	0	1	1
chr3	165023746	165023746	A	G	exonic	SI	.	nonsynonymous SNV	SI:NM_001041:exon26:c.T2923C:p.Y975H,	Sucrase-isomaltase deficiency, congenital, Autosomal recessive	.	1	1489	31	1	0	33	0.0109598	.	.	293673	Sucrase-isomaltase_deficiency|SI-related_disorder|not_provided	MONDO:MONDO:0009114,MedGen:C1283620,OMIM:222900,Orphanet:35122|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	0.999	D	2.63	M	-0.08	T	-0.076	T	0.381	T	0.498	3.511	17.94	5.23	2.324	4.266	15.247	0.506	.	0.0040	0.00319489	0.0040	0.0010	0.0039	0	0.0011	0.0058	0.0077	0.0020	0.0041267	638	154602	rs146785675	0.0050	0.0050	0.0049	0.0051	0.0153	0.0049	0.0048	0.0127	0.0118	0.0013	0.0062	0.0055	0	0.0011	0.0153	0.0056	0.0054	0.0018	0.0048	0.0048	0.0052	0.0044	0.0118	0.0045	0.0044	0.0104	0.0098	0.0014	0.0099	0.0118	0.0058	0	0.0013	0.0204	0.0063	0.0081	0.0012	0.014	0.53172	D	0.015	0.61642	D	1.0	0.90584	D	0.998	0.88582	D	0.000007	0.62929	D	0.066286	0.998642	0.45212	D	3.7	0.94612	H	-0.08	0.63911	T	-4.46	0.77798	D	0.644	0.65587	-0.0764	0.80633	T	0.381	0.73759	T	10	0.025785983	0.00762	T	.	.	.	0.506	0.78724	.	.	0.945111871398	0.94453	0.7485530980654919	0.74801	0.237281895606	0.26271	0.464577972889	0.33937	T	0.535424	0.83998	D	-0.295817	0.09060	T	-0.190306	0.55562	T	0.0514766366932002	0.05757	T	0.680832	0.28956	T	0.42258286	0.62263	0.36152923	0.61575	0.42258286	0.62264	0.36152923	0.61574	-8.426	0.63938	D	0.2563194530862008	0.34651	0.238	0.47206	B	.	.	4.046501	0.59952	24.2	0.9985915946282129	0.93820	0.98485	0.83276	D	AEFDI	0.614813	0.60199	D	0.660584470686298	0.77054	6.601703	0.581449699235702	0.73612	5.998803	0.384761113783112	0.19992	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.23	5.23	0.72570	3.702000	0.54532	8.876000	0.78337	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.794000	0.37478	1.0:0.0:0.0:0.0	15.247	0.73205	852	0.35056	P-type trefoil domain|P-type trefoil domain|P-type trefoil domain|P-type trefoil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	647.98	34	chr3	165023746	.	A	G	647.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.776e+00;DP=742;ExcessHet=0.0000;FS=4.250;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=0.486;SOR=0.284	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1290	20	0	1	0
chr3	165055221	165055221	T	G	exonic	SI	.	nonsynonymous SNV	SI:NM_001041:exon13:c.A1485C:p.Q495H,	Sucrase-isomaltase deficiency, congenital, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.062	B	0.033	B	0.008	N	1.000	N	1.395	L	-2.84	D	-0.417	T	0.512	D	0.174	0.107	4.577	-2.17	0.013	-0.130	6.590	0.131	0.0706221938404	.	0.000199681	1.651e-05	0	0	0.0002	0	0	0	0	1.94e-05	3	154602	rs202203549	2.058e-06	2.052e-06	4.098e-06	0	0.0002	5.5e-07	1.5e-07	8.39e-06	3.14e-06	0	0	0	5.065e-05	0	0.0002	0	0	0	1.314e-05	1.312e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	6.835e-05	2.86e-05	0	0	0	0	0.0004	0	0	0	0	0	0.031	0.45039	D	0.021	0.58089	D	0.062	0.23277	B	0.033	0.22329	B	0.007723	0.31228	N	0.349110	1	0.08975	N	1.87	0.49600	L	-2.84	0.91305	D	-1.4	0.34596	N	0.28	0.31702	-0.4169	0.71491	T	0.512	0.81661	D	10	0.07877353	0.12594	T	0.070622	0.71052	D	0.131	0.35738	0.451	0.51285	0.717204867021	0.71472	0.32240982747289976	0.32153	0.0308911193806	0.03197	0.329716086388	0.14891	T	0.301536	0.67398	T	-0.189953	0.22265	T	-0.341502	0.40174	T	0.0607203206308665	0.07282	T	0.441356	0.12220	T	0.30579627	0.53419	0.13783306	0.32935	0.30579627	0.53419	0.13783306	0.32934	-5.759	0.44215	T	0.17649837106103228	0.22524	0.147	0.32493	B	.	.	0.850487	0.12226	8.770	0.89667258479284606	0.18995	0.05353	0.11211	N	AEFI	0.110414	0.21896	N	-1.09128507563054	0.06802	0.3142079	-1.16509779583374	0.06501	0.313136	2.40352704155868E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.13	-2.17	0.06663	-0.632000	0.05587	-3.425000	0.02797	-0.795000	0.03215	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.3194:0.2292:0.4514	6.590	0.21839	878	0.29785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	325.98	33	chr3	165055221	.	T	G	325.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.063e+00;DP=865;ExcessHet=0.0000;FS=2.709;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.95;ReadPosRankSum=-1.025e+00;SOR=0.747	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	20	0	1	0
chr3	165062441	165062441	G	T	exonic	SI	.	nonsynonymous SNV	SI:NM_001041:exon9:c.C950A:p.T317N,	Sucrase-isomaltase deficiency, congenital, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.975	D	0.843	P	0.001	D	0.977	N	2.67	M	-1.98	D	0.203	D	0.676	D	0.139	3.715	18.87	-4.73	-0.843	-0.059	16.385	0.439	0.120812794583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.88e-07	2.052e-06	1.37e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.001	0.83351	D	0.975	0.58077	D	0.843	0.60313	P	0.000504	0.43753	D	0.259005	0.976719	0.25357	N	2.295	0.65404	M	-1.98	0.85247	D	-2.73	0.58085	D	0.44	0.47857	0.203	0.85955	D	0.676	0.88796	D	10	0.44495952	0.58338	T	0.120813	0.80144	D	0.439	0.74306	0.494	0.58206	0.889044093412	0.88795	0.5485015696087371	0.54776	0.212884074802	0.23798	0.380171895027	0.22281	T	0.187125	0.54063	T	-0.0721487	0.40984	T	-0.341413	0.40184	T	0.986967265605927	0.77558	D	0.919208	0.70896	D	0.79327613	0.83479	0.6850933	0.81484	0.79327613	0.83480	0.6850933	0.81485	-7.865	0.60146	D	.	.	0.476	0.63476	A	.	.	1.777882	0.22607	15.69	0.98603282728866282	0.43533	0.69331	0.34146	D	AEFI	0.366056	0.45401	N	-0.205142121343498	0.32921	1.862084	-0.40146809721185	0.24953	1.369474	1.32395717046154E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.45	-4.73	0.03022	-0.000000	0.12910	-3.397000	0.02818	-0.169000	0.11342	0.356000	0.25809	0.000000	0.08366	0.980000	0.58198	0.8194:0.0:0.1806:0.0	16.385	0.83337	898	0.25240	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	413.98	34	chr3	165062441	.	G	T	413.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.201;DP=701;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.78;ReadPosRankSum=1.82;SOR=0.914	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,931	20	0	1	0
chr3	167621610	167621610	A	C	exonic	WDR49	.	nonsynonymous SNV	WDR49:NM_001348951:exon4:c.T640G:p.F214V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.998	D	0.991	D	.	.	1.000	D	.	.	1.91	T	-1.019	T	0.130	T	0.483	4.182	21.7	5.41	2.043	6.397	14.418	0.344	0.0395840456917	.	0.000199681	0.0006	0	0	0	0	0	0	0.0012	6.47e-05	10	154602	rs201439202	5.788e-05	5.472e-05	3.713e-05	7.918e-05	0.0010	4.735e-05	4.386e-05	0.0008	0.0008	0	0	0	0	0	0	0	1.729e-05	0.0010	4.597e-05	4.593e-05	1.285e-05	8.058e-05	0.0015	2.108e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.016	0.54683	D	0.0	0.92824	D	0.998	0.73220	D	0.991	0.79672	D	.	.	.	.	1	0.81001	D	.	.	.	1.91	0.23283	T	-4.27	0.76254	D	0.663	0.67218	-1.0189	0.24074	T	0.130	0.43989	T	8	0.25358284	0.42727	T	0.039584	0.58894	D	0.344	0.66582	0.73	0.86373	0.235038932564	0.23097	.	.	.	.	.	.	.	.	.	.	-0.37532	0.03333	T	-0.35745	0.38348	T	0.328140104219546	0.26150	T	0.741726	0.40508	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	0.62543	A	.;.;.;.	.;.;.;.	4.253203	0.64575	24.7	0.99078946641913146	0.51906	0.95565	0.65228	D	AEFI	0.752898	0.69325	D	0.573250996541392	0.71509	5.66164	0.586662230965021	0.73981	6.06042	0.320308920355644	0.19378	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.41	5.41	0.78313	5.944000	0.69931	9.290000	0.79784	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.418	0.66737	842	0.36989	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1403.98	37	chr3	167621610	.	A	C	1403.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.225;DP=871;ExcessHet=0.0000;FS=2.733;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.47;ReadPosRankSum=0.272;SOR=1.034	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1267	20	0	1	0
chr3	167627286	167627286	G	C	exonic	WDR49	.	nonsynonymous SNV	WDR49:NM_001348951:exon3:c.C172G:p.Q58E	.	.	435	1061	25	1	0	27	0.012564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	T	0.0	B	0.0	B	.	.	1.000	D	.	.	1.01	T	-1.094	T	0.016	T	0.005	0.553	6.994	5.1	1.287	3.412	14.996	0.125	.	.	0.0135783	0.0012	0.0159	0	0	0	0	0	0.025	0.0009508	147	154602	rs77319753	0.0014	0.0014	0.0014	0.0015	0.0269	0.0014	0.0014	0.0252	0.0245	0.0269	0.0032	0	7.53e-05	9.303e-05	0.0090	0.0004	0.0041	0.0141	0.0085	0.0085	0.0084	0.0085	0.0262	0.0081	0.0079	0.0250	0.0244	0.0262	0.0022	0.0037	0	0.0012	0	0.0068	0.0008	0.0071	0.0127	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	.	.	.	1.01	0.41058	T	0.51	0.02898	N	0.048	0.01999	-1.0941	0.04884	T	0.016	0.06425	T	8	0.0038439333	0.00073	T	.	.	.	0.125	0.34456	.	.	0.144782658237	0.14088	.	.	.	.	.	.	.	.	.	.	-0.674961	0.00051	T	-0.723387	0.04633	T	0.00859171539074002	0.00105	T	0.174383	0.01678	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.00142	B	.;.	.;.	1.165256	0.15545	11.93	0.79373966206559421	0.12713	0.01533	0.05044	N	AEFI	0.056392	0.10421	N	-0.676723383152416	0.16687	0.8523274	-0.584740273411319	0.19891	1.069224	0.0113295462184001	0.12167	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.1	5.1	0.68917	3.438000	0.52634	3.927000	0.40510	-0.174000	0.10959	1.000000	0.71638	1.000000	0.68203	0.275000	0.23893	0.0:0.8562:0.1438:0.0	14.996	0.71087	805	0.43675	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3094.11	33	chr3	167627286	.	G	C	3094.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.64;DP=878;ExcessHet=0.1072;FS=0.539;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.53;ReadPosRankSum=0.936;SOR=0.622	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	19	0	2	0
chr3	167790410	167790410	G	A	exonic	SERPINI1	.	nonsynonymous SNV	SERPINI1:NM_001122752:exon3:c.G289A:p.V97I	Encephalopathy, familial, with neuroserpin inclusion bodies, Autosomal dominant	.	3	1479	38	2	0	42	0.014	.	.	293333	SERPINI1-related_disorder|Familial_encephalopathy_with_neuroserpin_inclusion_bodies|not_provided	.|MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218,Orphanet:85110|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.073	N	1.000	D	-0.81	N	-1.76	D	-0.882	T	0.118	T	0.176	-1.831	0.009	3.38	1.277	1.211	3.431	0.128	0.0328983958797	0.0045	0.00219649	0.0047	0.0004	0.0028	0	0.0009	0.0060	0.0088	0.0070	0.0046571	720	154602	rs61750375	0.0052	0.0052	0.0050	0.0054	0.0113	0.0051	0.0051	0.0091	0.0083	0.0009	0.0035	0.0067	2.521e-05	0.0010	0.0113	0.0054	0.0060	0.0082	0.0036	0.0036	0.0039	0.0033	0.0060	0.0033	0.0032	0.0051	0.0050	0.0007	0.0044	0.0037	0.0075	0	0.0008	0.0102	0.0056	0.0047	0.0060	1.0	0.00964	T	1.0	0.06033	T	0.0	0.02946	B	0.0	0.01387	B	0.072584	0.21399	N	0.510004	0.997854	0.22475	N	-0.96	0.01244	N	-1.76	0.83578	D	0.72	0.02442	N	0.118	0.10769	-0.8820	0.49601	T	0.118	0.41538	T	10	0.003496945	0.00062	T	0.032898	0.54598	D	0.128	0.35103	.	.	0.349806870941	0.34587	0.12769553884308935	0.12695	0.0739654645064	0.08289	0.265640407801	0.05581	T	0.066618	0.41999	T	-0.418963	0.01736	T	-0.370023	0.36887	T	0.000506542078013656	0.00004	T	0.513049	0.16451	T	0.0813746	0.18693	0.034470256	0.02519	0.099284485	0.23429	0.027892668	0.00977	-3.401	0.15070	T	0.07746155032237506	0.03632	0.101	0.17700	B	.;.;.;.	.;.;.;.	0.245951	0.06257	2.711	0.1125454455996657	0.00164	0.58987	0.30791	D	AEFDHCI	0.196709	0.32367	N	-0.97674131696484	0.09102	0.4294178	-0.769956646674864	0.15233	0.8001048	0.00303427363349803	0.09882	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.45	3.38	0.37806	1.259000	0.32559	1.149000	0.24466	-0.154000	0.11915	0.801000	0.29734	0.536000	0.25389	0.361000	0.25909	0.0975:0.1414:0.4717:0.2893	3.431	0.07000	805	0.43675	Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	2102.98	35	chr3	167790410	.	G	A	2102.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.844;DP=853;ExcessHet=0.0000;FS=0.600;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=-1.442e+00;SOR=0.627	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1287	20	0	1	0
chr3	169116511	169116511	G	A	exonic	MECOM	.	nonsynonymous SNV	MECOM:NM_001105078:exon7:c.C797T:p.T266M	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2679223	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.983	D	0.674	P	0.001	D	1.000	D	0.345	N	3.54	T	-1.068	T	0.024	T	0.508	3.457	17.71	6.03	2.861	9.476	20.557	0.255	0.0237021468509	.	.	1.648e-05	0	0	0.0001	0	1.499e-05	0	0	1.29e-05	2	154602	rs768521397	8.893e-06	8.893e-06	9.529e-06	8.25e-06	0.0002	4.96e-06	3.82e-06	8.198e-05	5.784e-05	0	2.236e-05	0	0.0002	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.015	0.61642	D	0.969	0.56768	D	0.584	0.50293	P	0.000506	0.43753	D	0.198423	0.999815	0.49394	D	.	.	.	3.44	0.05778	T	-0.56	0.19085	N	0.695	0.70000	-1.0677	0.09926	T	0.024	0.10374	T	10	0.28256	0.45834	T	0.023702	0.46671	T	0.255	0.56562	0.321	0.30064	0.043077524339	0.03247	0.31438643720561144	0.31351	0.671313577095	0.59453	0.669498860836	0.62767	T	0.026135	0.19403	T	-0.27452	0.11258	T	-0.339956	0.40350	T	0.500829756259918	0.32660	D	0.984602	0.94707	D	0.08557166	0.19855	0.14054151	0.33498	0.08557166	0.19854	0.14054151	0.33497	-4.663	0.34905	T	.	.	0.111	0.27069	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.649806	0.92802	33	0.99821852418882506	0.90502	0.99365	0.95074	D	AEFDBI	0.942760	0.94774	D	0.583192421077753	0.72125	5.756913	0.705074564456488	0.82764	7.848516	1.0	0.98316	0.722319	0.85440	0	0.573888	0.26702	0	0.602189	0.34648	0	0.735409	0.98432	0	.	.	6.03	6.03	0.97798	9.602000	0.97623	11.936000	0.99985	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.557	0.99307	705	0.57330	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2031.98	36	chr3	169116511	.	G	A	2031.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.49;DP=852;ExcessHet=0.0000;FS=2.879;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.28;ReadPosRankSum=0.513;SOR=0.933	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1065	20	0	1	0
chr3	169143748	169143748	C	A	exonic	MECOM	.	nonsynonymous SNV	MECOM:NM_001105077:exon3:c.G88T:p.A30S	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, Autosomal dominant	.	436	1039	45	2	0	49	0.0230371	.	.	3221779	MECOM-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.12	T	0.548	P	0.089	B	.	.	1.000	D	1.795	L	2.93	T	-0.430	T	0.301	T	0.423	4.026	20.6	6.07	2.885	5.423	20.659	0.161	.	0.0032	0.00678914	0.0047	0.0037	0.0029	0	0.0003	0.0032	0.0168	0.0159	0.0043725	676	154602	rs116535717	0.0030	0.0030	0.0025	0.0035	0.0203	0.0029	0.0029	0.0173	0.0162	0.0041	0.0026	0.0066	5.06e-05	7.505e-05	0.0203	0.0020	0.0041	0.0157	0.0040	0.0040	0.0037	0.0044	0.0170	0.0038	0.0037	0.0140	0.0129	0.0035	0.0581	0.0051	0.0104	0.0004	9.427e-05	0.0136	0.0029	0.0057	0.0170	0.003	0.68238	D	0.133	0.37449	T	0.548	0.38076	P	0.089	0.29769	B	.	.	.	.	0.529527	0.81001	D	.	.	.	2.93	0.76948	T	-1.11	0.31778	N	0.623	0.63798	-0.4302	0.71060	T	0.301	0.67195	T	9	0.007782936	0.00177	T	.	.	.	0.161	0.41658	.	.	0.597383033342	0.59418	0.343292361843405	0.34242	0.922736141103	0.71521	0.65283703804	0.60388	T	.	.	.	-0.282396	0.10415	T	-0.165445	0.57859	T	0.0180087818442308	0.00525	T	0.817418	0.47426	T	0.17458437	0.38271	0.17883569	0.40579	0.18525617	0.39879	0.21110153	0.45524	-7.376	0.56735	T	.	.	0.138	0.30264	B	.;.	.;.	4.257225	0.64674	24.7	0.99621839617057428	0.75473	0.97359	0.74250	D	AEFDBI	0.833764	0.75192	D	0.30786349462989	0.56551	3.820003	0.420312686123832	0.62833	4.505449	0.999999999992753	0.74766	0.627647	0.40530	0	0.59043	0.45803	0	0.563428	0.18855	0	0.657601	0.63696	0	.	.	6.07	6.07	0.98675	5.602000	0.67298	7.728000	0.67649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.846000	0.39970	0.0:1.0:0.0:0.0	20.659	0.99629	714	0.56256	.;SET domain|SET domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2633.11	35	chr3	169143748	.	C	A	2633.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.949;DP=864;ExcessHet=0.1072;FS=1.684;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=-2.810e-01;SOR=0.554	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1260	19	0	2	0
chr3	169806873	169806873	C	T	exonic	LRRC34	.	nonsynonymous SNV	LRRC34:NM_001172779:exon5:c.G503A:p.G168E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	0.674	N	2.76	M	0.65	T	-0.283	T	0.318	T	0.605	3.699	18.79	3.48	1.241	3.411	13.171	0.265	0.0455186919057	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1213880857	6.875e-07	6.841e-07	0	1.381e-06	1.171e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.171e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.008	0.69154	D	0.991	0.64070	D	0.881	0.62579	P	0.000078	0.52346	D	0.167364	0.674216	0.30337	N	.	.	.	0.65	0.52642	T	-3.88	0.72710	D	0.661	0.71321	-0.2828	0.75464	T	0.318	0.68717	T	10	0.75907004	0.76206	D	0.045519	0.62018	D	0.265	0.57870	.	.	0.669029919475	0.66624	0.8409553897529126	0.84055	0.413300811433	0.42045	0.509241223335	0.40115	T	.	.	.	-0.0549936	0.43685	T	-0.216141	0.53108	T	0.978346168994904	0.72280	D	0.89951	0.67561	D	0.5146963	0.67953	0.5896118	0.76191	0.5146963	0.67954	0.5896118	0.76192	-13.996	0.93043	D	.	.	0.725	0.80161	P	.;.;.	.;.;.	4.396656	0.67894	25.2	0.99694369254691806	0.80180	0.94545	0.61513	D	AEFBI	0.650831	0.62480	D	0.581571992359402	0.72026	5.741215	0.506046175541306	0.68398	5.214334	0.0108635152878121	0.12094	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.43	3.48	0.38946	3.838000	0.55532	3.302000	0.37391	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.5376:0.4624:0.0	13.171	0.59017	381	0.83684	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	448.98	33	chr3	169806873	.	C	T	448.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.938;DP=747;ExcessHet=0.0000;FS=5.443;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.48;ReadPosRankSum=0.698;SOR=1.453	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1152	20	0	1	0
chr3	169828831	169828831	C	T	exonic	LRRIQ4	.	nonsynonymous SNV	LRRIQ4:NM_001080460:exon2:c.C1093T:p.P365S,	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.998	D	0.000	D	1.000	D	2.775	M	1.55	T	-0.595	T	0.247	T	0.611	3.187	16.67	5.77	2.723	5.132	19.587	0.369	0.0337454600544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	0.998	0.88582	D	0.000003	0.62929	D	0.000000	0.999943	0.51968	D	3.045	0.86684	M	1.55	0.29866	T	-7.47	0.94958	D	0.746	0.74553	-0.5953	0.65008	T	0.247	0.61658	T	10	0.944898	0.93814	D	0.033745	0.55199	D	0.369	0.68844	0.797	0.91729	0.342631996419	0.33872	0.7385333209320578	0.73798	0.533223111865	0.50761	0.43634814024	0.30079	T	0.102127	0.40955	T	0.0600881	0.59625	T	-0.151464	0.59114	T	0.999426484107971	0.97351	D	0.745225	0.36553	T	0.8344004	0.86210	0.8173323	0.89368	0.8344004	0.86212	0.8173323	0.89368	-10.399	0.76265	D	.	.	0.531	0.65959	A	.	.	4.653191	0.74191	26.1	0.99907604626518132	0.97801	0.94069	0.60019	D	AEFGBI	0.528067	0.54975	D	0.732194286057841	0.81743	7.594186	0.652231741593344	0.78778	6.945028	0.999999990151675	0.74766	0.369785	0.05700	0	0.475579	0.06741	0	0.547309	0.15389	0	0.651492	0.60203	0	.	.	5.77	5.77	0.91077	5.254000	0.65274	7.687000	0.65600	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.812000	0.38265	0.0:1.0:0.0:0.0	19.587	0.95487	374	0.84073	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1408.98	34	chr3	169828831	.	C	T	1408.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.369;DP=802;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=0.671;SOR=0.660	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr3	169840103	169840103	G	A	exonic	LRRC31	.	nonsynonymous SNV	LRRC31:NM_001277128:exon8:c.C1370T:p.P457L	.	.	436	1082	4	0	0	4	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.986	D	0.73	P	0.000	D	1.000	D	0.975	L	2.93	T	-1.133	T	0.030	T	0.485	2.228	13.41	4.46	2.031	4.749	17.122	0.245	0.00981651177608	0.0012	0.00159744	0.0011	0.0004	0.0015	0	0.0002	0.0016	0	0.0002	0.0011384	176	154602	rs187788865	0.0014	0.0014	0.0014	0.0014	0.0023	0.0014	0.0014	0.0017	0.0016	0.0003	0.0021	0.0003	0	3.744e-05	0.0023	0.0017	0.0011	0.0003	0.0013	0.0013	0.0014	0.0011	0.0026	0.0011	0.0011	0.0020	0.0018	0.0008	0	0.0026	0.0012	0	0	0	0.0016	0.0014	0	0.006	0.63226	D	0.01	0.66756	D	0.986	0.61523	D	0.655	0.55268	P	0.000133	0.49741	D	0.177966	1	0.81001	D	2.135	0.59519	M	2.83	0.10771	T	-3.46	0.71639	D	0.22	0.29197	-1.1333	0.01631	T	0.030	0.13067	T	10	0.00619027	0.00139	T	0.009817	0.25608	T	0.245	0.55201	.	.	0.374076547971	0.37021	0.34966647793922967	0.34880	0.186288168603	0.20939	0.387393712997	0.23302	T	0.046135	0.27331	T	-0.414757	0.01849	T	-0.381776	0.35516	T	0.173187047243118	0.18794	T	0.841416	0.51702	T	0.22461128	0.45106	0.29310688	0.55338	0.22461128	0.45106	0.29310688	0.55338	-10.317	0.77283	D	.	.	0.113	0.22282	B	.;.	.;.	3.449170	0.48019	22.5	0.99413612032898813	0.63405	0.92199	0.55166	D	AEFBI	0.514225	0.54169	D	0.136888881416615	0.48190	3.034607	0.0471080861996934	0.41933	2.52761	0.996108358689384	0.34527	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.46	4.46	0.53567	4.849000	0.62580	5.894000	0.50799	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.054000	0.15518	0.0:0.0:1.0:0.0	17.122	0.86580	378	0.83833	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1447.98	42	chr3	169840103	.	G	A	1447.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.230e-01;DP=918;ExcessHet=0.0000;FS=0.789;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.24;ReadPosRankSum=-1.007e+00;SOR=0.570	GT:AD:DP:GQ:PL	0/0:87,0:87:99:0,120,1800	20	0	1	0
chr3	169869677	169869677	G	A	exonic	LRRC31	.	nonsynonymous SNV	LRRC31:NM_001277127:exon1:c.C131T:p.S44F	.	.	434	1083	4	0	1	5	0.00184332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.0	B	0.001	B	0.616	N	1.000	N	0	N	3.48	T	-0.938	T	0.013	T	0.109	-0.106	3.481	-2.23	-0.814	-0.151	6.563	0.012	0.0024671868124	0.0013	0.000399361	0.0016	0.0003	8.666e-05	0	0.0009	0.0024	0.0011	0.0015	0.0015394	238	154602	rs190983691	0.0018	0.0018	0.0018	0.0018	0.0020	0.0017	0.0017	0.0020	0.0019	0.0004	0.0003	0.0002	2.529e-05	0.0009	0.0009	0.0020	0.0019	0.0015	0.0013	0.0013	0.0014	0.0012	0.0021	0.0012	0.0011	0.0018	0.0017	0.0003	0.0011	0.0016	0	0	0.0007	0	0.0021	0.0024	0.0010	0.786	0.04107	T	0.909	0.04416	T	0.0	0.02946	B	0.001	0.04355	B	0.616187	0.05729	N	1.231350	1	0.08975	N	0.455	0.12820	N	3.06	0.09635	T	-0.18	0.19085	N	0.079	0.06059	-0.9380	0.42932	T	0.013	0.04938	T	10	0.0061742663	0.00139	T	0.002467	0.04896	T	0.012	0.01476	.	.	0.0716867268079	0.06686	0.08705450324807751	0.08639	0.0308292728912	0.03189	0.228200078011	0.01837	T	0.003763	0.03171	T	-0.680137	0.00048	T	-0.752168	0.03402	T	0.00681099691094371	0.00077	T	0.534647	0.17878	T	0.04189775	0.06254	0.05905598	0.11019	0.04189775	0.06254	0.05905598	0.11018	-5.287	0.40977	T	.	.	0.071	0.05103	B	.;.;.	.;.;.	-0.450547	0.02032	0.183	0.24405598254519567	0.01077	0.01614	0.05222	N	AEFDBIJ	0.041875	0.06423	N	-1.32334111164713	0.03409	0.1522516	-1.34660816940294	0.03845	0.1802358	0.201713573702428	0.18131	0.446893	0.09132	0	0.491513	0.07743	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.4	-2.23	0.06539	-0.030000	0.12257	-0.049000	0.12570	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.3316:0.1528:0.5156:0.0	6.563	0.21691	422	0.81333	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	507.98	33	chr3	169869677	.	G	A	507.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.725;DP=694;ExcessHet=0.0000;FS=1.193;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=0.092;SOR=0.919	GT:AD:DP:GQ:PL	0/0:31,0:31:93:0,93,1000	20	0	1	0
chr3	170390318	170390318	G	A	exonic	SKIL	.	nonsynonymous SNV	SKIL:NM_001145097:exon4:c.G1387A:p.V463I	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.022	B	0.036	B	0.436	N	1.000	N	0	N	-2.73	D	-0.514	T	0.493	T	0.085	0.914	8.722	5.66	2.838	2.188	12.614	0.239	.	.	0.00858626	0.0060	9.614e-05	0.0003	0.0001	0	1.498e-05	0.0033	0.0434	0.005084	786	154602	rs555227200	0.0026	0.0026	0.0014	0.0039	0.0423	0.0026	0.0025	0.0412	0.0407	8.961e-05	6.708e-05	0	7.558e-05	0	0.0026	9.892e-06	0.0025	0.0423	0.0014	0.0014	0.0007	0.0022	0.0439	0.0013	0.0012	0.0391	0.0372	9.633e-05	0	6.543e-05	0	0	0	0.0034	2.941e-05	0	0.0439	0.227	0.52492	T	0.459	0.13103	T	0.008	0.18677	B	0.022	0.22909	B	0.436475	0.12682	N	0.764973	1	0.08975	N	0	0.06538	N	-2.74	0.90735	D	-0.23	0.10656	N	0.086	0.10483	-0.5143	0.68128	T	0.493	0.80757	T	10	0.0030667186	0.00051	T	.	.	.	0.239	0.54358	0.4	0.42917	0.826835386655	0.82519	0.04690176099306565	0.04633	0.149256190456	0.16829	0.295313179493	0.09703	T	0.274296	0.64678	T	-0.429866	0.01485	T	-0.357392	0.38353	T	0.0300697229585	0.02001	T	0.657134	0.27986	T	0.03594847	0.04328	0.043122385	0.05293	0.03594847	0.04328	0.043122385	0.05293	-4.403	0.31084	T	.	.	0.087	0.16363	B	.;.;.;.	.;.;.;.	1.545064	0.19810	14.45	0.92811412567743035	0.22337	0.19403	0.20647	N	AEFBI	0.056160	0.10360	N	-0.630599898754659	0.18030	0.9327873	-0.542562058118746	0.21003	1.134198	0.980502808707806	0.30144	0.706548	0.73137	0	0.614415	0.52539	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	2.254000	0.42868	8.501000	0.77359	0.604000	0.46097	0.028000	0.20300	1.000000	0.68203	0.006000	0.07323	0.0763:0.0:0.9237:0.0	12.614	0.55923	845	0.36510	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1484.98	34	chr3	170390318	.	G	A	1484.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.271e+00;DP=791;ExcessHet=0.0000;FS=1.520;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=-6.340e-01;SOR=0.540	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1119	20	0	1	0
chr3	170998046	170998046	G	C	exonic	SLC2A2	.	nonsynonymous SNV	SLC2A2:NM_001278658:exon10:c.C1075G:p.L359V	Fanconi-Bickel syndrome, Autosomal recessive	.	1	1511	10	0	0	10	0.00329815	.	.	293779	SLC2A2-related_disorder|not_provided|Fanconi-Bickel_syndrome|Type_2_diabetes_mellitus	.|MedGen:C3661900|MONDO:MONDO:0009216,MedGen:C3495427,OMIM:227810,Orphanet:2088|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.49	T	0.043	B	0.04	B	0.010	N	0.928	D	-0.35	N	-0.96	T	-1.061	T	0.132	T	0.136	1.197	9.862	1.36	-0.028	0.191	6.334	0.090	0.00890319125531	0.0011	0.000399361	0.0010	0.0002	0	0	0.0018	0.0011	0.0011	0.0023	0.0009508	147	154602	rs5397	0.0013	0.0013	0.0013	0.0013	0.0022	0.0012	0.0012	0.0019	0.0018	0.0002	0.0001	0	0	0.0011	0.0005	0.0014	0.0013	0.0022	0.0009	0.0009	0.0008	0.0010	0.0025	0.0008	0.0007	0.0014	0.0011	0.0002	0	0.0004	0	0	0.0013	0	0.0014	0.0005	0.0025	0.357	0.12032	T	0.737	0.05036	T	0.043	0.21573	B	0.04	0.23831	B	0.009530	0.30318	N	0.345965	0.928115	0.36885	D	0.49	0.13296	N	-0.96	0.75553	T	-0.28	0.11547	N	0.075	0.04913	-1.0613	0.11434	T	0.132	0.44425	T	10	0.010517448	0.00234	T	0.008903	0.23463	T	0.090	0.26093	.	.	0.516162830352	0.51260	0.4817847910657274	0.48098	0.166197381552	0.18754	0.449450194836	0.31869	T	0.238634	0.60658	T	-0.486422	0.00680	T	-0.477655	0.24696	T	0.00428323383558468	0.00046	T	0.813419	0.46649	T	0.0684418	0.14910	0.040046085	0.04240	0.05942514	0.12074	0.051368464	0.08253	-3.233	0.12888	T	0.10844219643555432	0.08941	0.066	0.02173	B	.	.	0.835277	0.12070	8.622	0.95680526812552436	0.27539	0.43429	0.27096	N	ALL	0.734619	0.68069	D	-0.912838903687013	0.10541	0.5041921	-0.809780062119685	0.14259	0.7441296	0.999999981263485	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.648885	0.59868	0	.	.	6.17	1.36	0.21139	0.127000	0.15617	0.142000	0.15184	0.676000	0.76740	0.029000	0.20367	0.001000	0.17328	0.992000	0.67800	0.2423:0.2193:0.5384:0.0	6.334	0.20493	917	0.20147	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1758.98	36	chr3	170998046	.	G	C	1758.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.299e+00;DP=877;ExcessHet=0.0000;FS=6.420;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=-6.280e-01;SOR=1.111	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1395	20	0	1	0
chr3	171014539	171014539	C	T	exonic	SLC2A2	.	nonsynonymous SNV	SLC2A2:NM_000340:exon3:c.G301A:p.V101I,	Fanconi-Bickel syndrome, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	251005	Monogenic_diabetes|not_specified|Fanconi-Bickel_syndrome|not_provided	MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:CN169374|MONDO:MONDO:0009216,MedGen:C3495427,OMIM:227810,Orphanet:2088|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.997	D	0.000	D	1.000	D	3.375	M	-1.15	T	0.344	D	0.580	D	0.548	5.585	35	6.08	2.894	7.369	20.274	0.464	.	0.0002	0.00319489	0.0014	0	0.0008	0.0148	0	0.0004	0.0011	0.0005	0.0013195	204	154602	rs1800572	0.0009	0.0009	0.0009	0.0009	0.0236	0.0009	0.0009	0.0223	0.0218	0	0.0010	0.0059	0.0236	7.488e-05	0.0007	6.655e-05	0.0012	0.0005	0.0009	0.0009	0.0009	0.0008	0.0158	0.0007	0.0007	0.0130	0.0120	0	0	0.0009	0.0063	0.0158	0	0	8.82e-05	0.0019	0.0006	0.001	0.78490	D	0.035	0.52389	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.045	0.86684	M	-1.15	0.77964	T	-0.89	0.24026	N	0.545	0.57177	0.344	0.88250	D	0.580	0.84867	D	10	0.01395154	0.00294	T	.	.	.	0.464	0.76023	.	.	0.921795024414	0.92100	0.7767031994767668	0.77620	0.564363956281	0.52821	0.548998773098	0.45716	T	0.414483	0.76802	T	-0.213721	0.18859	T	-0.0680951	0.65762	T	0.0910943406524676	0.11347	T	0.971803	0.89778	D	0.68906474	0.77461	0.7248556	0.83749	0.79933816	0.83864	0.8225538	0.89703	-11.285	0.81198	D	0.6984168083227051	0.77706	0.150	0.33063	B	.	.	4.771730	0.77247	26.7	0.99845895340126201	0.92576	0.96802	0.71018	D	AEFBHCI	0.954597	0.97181	D	1.02276450458692	0.96401	14.65175	0.977051219509457	0.98132	17.50214	1.0	0.98316	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.08	6.08	0.98982	7.538000	0.80960	7.619000	0.62229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.274	0.98485	917	0.20147	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1729.98	38	chr3	171014539	.	C	T	1729.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.893e+00;DP=868;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.01;ReadPosRankSum=-1.192e+00;SOR=0.686	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1309	20	0	1	0
chr3	171644995	171644995	C	T	exonic	PLD1	.	nonsynonymous SNV	PLD1:NM_001130081:exon21:c.G2344A:p.V782M	.	.	431	1084	7	0	0	7	0.00321839	.	.	1249448	PLD1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.13	T	0.999	D	0.984	D	0.000	D	1.000	D	2.635	M	1.73	T	-1.020	T	0.049	T	0.842	2.976	15.92	5.72	2.717	4.608	12.052	0.207	.	0.0010	0.0145767	0.0161	0.0012	0.1347	0.0355	0	0.0006	0.0066	0.0017	0.014657	2266	154602	rs2287579	0.0051	0.0051	0.0057	0.0045	0.1137	0.0050	0.0050	0.1111	0.1100	0.0007	0.1137	0.0025	0.0397	0	0.0014	0.0003	0.0039	0.0018	0.0076	0.0075	0.0062	0.0090	0.0576	0.0072	0.0070	0.0544	0.0532	0.0007	0	0.0576	0.0029	0.0351	0	0.0034	0.0004	0.0043	0.0019	0.001	0.78490	D	0.067	0.76473	T	0.999	0.77913	D	0.984	0.76113	D	0.000024	0.55875	D	0.121075	0.999999	0.81001	D	2.735	0.79925	M	1.73	0.26445	T	-2.01	0.48354	N	0.39	0.43126	-1.0198	0.23780	T	0.049	0.20868	T	10	0.003019631	0.00049	T	.	.	.	0.207	0.49555	.	.	.	.	0.8767826776250683	0.87645	0.401222737018	0.41108	0.589160323143	0.51375	T	0.097496	0.40037	T	-0.227545	0.16976	T	0.00749337	0.70820	D	0.0473070720988677	0.05019	T	0.962704	0.86103	D	0.6387032	0.74762	0.47847182	0.69789	0.6180685	0.73661	0.47847182	0.69790	-5.737	0.44022	T	0.5171357077631028	0.58998	0.35	0.66168	A	.;.	.;.	4.136035	0.61934	24.4	0.99855161698190731	0.93368	0.92408	0.55643	D	AEFDBI	0.564673	0.57137	D	0.638965671318064	0.75658	6.344784	0.572680239577176	0.72987	5.897474	0.999999999852445	0.74766	0.67177	0.52595	0	0.588066	0.40923	0	0.618467	0.43123	0	0.711	0.71501	0	.	.	5.72	5.72	0.89380	4.996000	0.63655	4.816000	0.45080	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.319000	0.24947	0.0:0.9206:0.0:0.0794	12.052	0.52808	949	0.11373	.;Phospholipase D-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	859.98	33	chr3	171644995	.	C	T	859.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=784;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.12;ReadPosRankSum=-4.850e-01;SOR=0.774	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1282	20	0	1	0
chr3	172295450	172295450	C	A	exonic	FNDC3B	.	nonsynonymous SNV	FNDC3B:NM_001135095:exon8:c.C937A:p.P313T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.839	P	0.754	P	0.000	D	1.000	D	0.66	N	0.43	T	-0.980	T	0.134	T	0.156	3.345	17.26	5.06	2.835	1.190	4.643	0.116	0.00810622615147	.	0.000399361	0.0007	0	0	0.0001	0	2.997e-05	0	0.0046	0.0005239	81	154602	rs555695775	0.0003	0.0003	0.0001	0.0004	0.0045	0.0003	0.0003	0.0041	0.0040	0	2.236e-05	0	0	0	0.0003	6.296e-06	0.0002	0.0045	0.0002	0.0002	8.994e-05	0.0002	0.0046	0.0001	9.231e-05	0.0031	0.0026	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0.0046	0.092	0.31682	T	0.113	0.36901	T	0.221	0.30336	B	0.246	0.38861	B	0.000001	0.84330	D	0.097214	0.838426	0.35027	D	0.235	0.09667	N	0.43	0.56772	T	-2.35	0.51968	N	0.181	0.21969	-0.9801	0.34979	T	0.134	0.44700	T	10	0.008096218	0.00184	T	0.008106	0.21495	T	0.116	0.32463	0.443	0.49975	0.171220215726	0.16700	0.4019756284087958	0.40113	0.761476978541	0.64281	0.574085831642	0.49255	T	0.098924	0.40322	T	-0.476345	0.00777	T	-0.45606	0.27030	T	0.149171564207564	0.17037	T	0.755224	0.37818	T	0.20746177	0.42952	0.13956109	0.33296	0.19216152	0.40875	0.14004917	0.33395	-5.331	0.40249	T	.	.	0.248	0.48624	B	.;.;.	.;.;.	3.100322	0.41782	21.4	0.99677429846915178	0.79043	0.62573	0.31823	D	AEFBHCI	0.081810	0.16559	N	0.155143756783092	0.49056	3.110297	0.290316180966948	0.54972	3.660936	0.999999819556546	0.74766	0.67177	0.52595	0	0.653731	0.59785	0	0.67347	0.61138	0	0.711	0.71501	0	.	.	5.98	5.06	0.67838	0.975000	0.29046	3.892000	0.40300	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.982000	0.59238	0.1581:0.6102:0.1522:0.0795	4.643	0.11947	929	0.16858	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	643.98	36	chr3	172295450	.	C	A	643.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.300e-02;DP=787;ExcessHet=0.0000;FS=1.785;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.24;ReadPosRankSum=-4.500e-01;SOR=0.936	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	20	0	1	0
chr3	172341158	172341158	C	T	exonic	FNDC3B	.	nonsynonymous SNV	FNDC3B:NM_001135095:exon17:c.C1898T:p.T633I	.	.	434	1087	1	0	0	1	0.00045977	.	.	2731592	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	0.001	B	0.014	B	0.001	N	0.999	D	1.635	L	0.15	T	-0.918	T	0.158	T	0.461	0.327	5.770	3.68	1.124	2.703	11.180	0.158	0.0160633689192	0.0004	.	0.0001	0	0	0	0	0.0002	0	0	9.7e-05	15	154602	rs145680877	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0	8.944e-05	0	0	0	0	0.0002	0.0001	0	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.241e-05	0.0002	0.0002	0	0	0.0001	0	0	0	0	0.0003	0	0	0.171	0.22746	T	0.179	0.29540	T	0.001	0.07471	B	0.014	0.16862	B	0.001110	0.40219	N	0.308632	0.689119	0.33309	D	1.8	0.47472	L	0.15	0.60734	T	0.64	0.02368	N	0.665	0.68777	-0.9183	0.45783	T	0.158	0.49145	T	10	0.40743524	0.55990	T	0.016063	0.37127	T	0.158	0.41098	.	.	0.612009523599	0.60888	0.2363999260440365	0.23554	0.298929906386	0.32271	0.398632824421	0.24878	T	0.071735	0.34281	T	-0.26947	0.11815	T	-0.327292	0.41769	T	0.0803468301892281	0.10031	T	0.79532	0.43818	T	0.038448144	0.05124	0.05298204	0.08836	0.038448144	0.05124	0.05298204	0.08836	-6.351	0.49125	T	.	.	0.171	0.37577	B	.;.;.	.;.;.	1.911625	0.24279	16.34	0.89302401820733535	0.18681	0.87086	0.46521	D	AEFGBI	0.170829	0.29776	N	-0.417151524497013	0.24867	1.345824	-0.37133620137722	0.25855	1.424492	0.99940403625193	0.39524	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.88	3.68	0.41359	2.174000	0.42109	4.092000	0.41811	0.599000	0.40250	0.960000	0.33603	0.999000	0.35428	0.016000	0.10718	0.0:0.824:0.0:0.176	11.180	0.47847	860	0.33753	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	843.98	34	chr3	172341158	.	C	T	843.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=780;ExcessHet=0.0000;FS=1.812;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.17;ReadPosRankSum=0.903;SOR=0.984	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1232	20	0	1	0
chr3	172633486	172633486	G	C	exonic	NCEH1	.	nonsynonymous SNV	NCEH1:NM_001146278:exon4:c.C817G:p.Q273E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.006	B	0.330	N	0.984	N	-0.965	N	0.47	T	-1.039	T	0.052	T	0.15	-2.187	0.005	3.09	0.358	-0.133	13.269	0.083	0.00630731294736	.	0.000199681	2.527e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs529279009	1.3e-05	1.3e-05	9.532e-06	1.651e-05	0.0002	8.32e-06	6.7e-06	0.0001	0.0001	0	0	0	0	0	0.0002	0	0	0.0002	6.57e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.330241	0.14126	N	0.705695	0.98405	0.24834	N	.	.	.	0.47	0.56114	T	1.12	0.01297	N	0.056	0.04307	-1.0388	0.17678	T	0.052	0.22076	T	10	0.026589513	0.00822	T	0.006307	0.16580	T	0.083	0.24192	.	.	0.346315397577	0.34243	0.542419000083535	0.54166	0.370578501582	0.38572	0.274562954903	0.06745	T	0.020632	0.16209	T	-0.412533	0.01913	T	-0.538203	0.18474	T	0.0185841137795435	0.00573	T	0.724828	0.37065	T	.	.	.	.	.	.	.	.	-2.976	0.09925	T	.	.	0.059	0.00861	B	.;.;.	.;.;.	0.330877	0.07050	3.613	0.11949088186527559	0.00194	0.59547	0.30945	D	AEFBI	0.114574	0.22561	N	-1.10691480924843	0.06519	0.3003208	-0.891354302889135	0.12299	0.6318017	0.179374892368713	0.17849	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	6.01	3.09	0.34677	0.043000	0.13855	3.860000	0.40132	-0.244000	0.07312	0.954000	0.33273	1.000000	0.68203	0.053000	0.15439	0.0:0.4713:0.4164:0.1123	13.269	0.59583	729	0.54495	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1222.98	35	chr3	172633486	.	G	C	1222.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.311e+00;DP=779;ExcessHet=0.0000;FS=1.826;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.90;ReadPosRankSum=0.591;SOR=1.009	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1217	20	0	1	0
chr3	174280537	174280537	G	A	exonic	NLGN1	.	nonsynonymous SNV	NLGN1:NM_001365929:exon6:c.G1706A:p.R569H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.954	D	0.000	D	1.000	D	2.435	M	-0.27	T	0.039	D	0.506	D	0.915	4.592	25.0	5.67	2.666	9.869	19.771	0.625	0.130973069767	.	.	6.633e-05	0	0	0.0003	0.0006	0	0	6.11e-05	5.17e-05	8	154602	rs769241191	3.833e-05	3.899e-05	4.495e-05	3.165e-05	0.0002	3.027e-05	2.721e-05	8.201e-05	5.786e-05	2.994e-05	0	3.834e-05	0.0002	0.0003	0	2.069e-05	1.658e-05	5.8e-05	5.267e-05	6.565e-05	2.576e-05	8.083e-05	1.473e-05	2.562e-05	1.833e-05	.	.	0	0	0	0	0	0.0007	0	1.473e-05	0	0	0.001	0.78490	D	0.008	0.67890	D	1.0	0.90584	D	0.954	0.69447	D	0.000009	0.62929	D	0.108897	1	0.81001	D	.	.	.	-0.27	0.68474	T	-3.8	0.71762	D	0.528	0.56145	0.039	0.83036	D	0.506	0.81396	D	10	0.5914162	0.66402	D	0.130973	0.81318	D	0.625	0.85511	0.432	0.48171	0.797248073371	0.79536	0.7454142524092356	0.74487	1.24129770132	0.81574	0.895406723022	0.95915	D	0.409218	0.76431	T	0.152459	0.69498	D	0.281544	0.87207	D	0.509085540549553	0.32963	D	0.957704	0.84069	D	.	.	.	.	.	.	.	.	-9.552	0.71182	D	.	.	0.975	0.90137	P	.;.;.	.;.;.	5.873416	0.93903	33	0.99935358591187828	0.99579	0.96350	0.68709	D	AEFHCI	0.923811	0.90086	D	0.946440990653104	0.93842	12.31535	0.92906608948499	0.96719	15.05471	0.99999999123321	0.74766	0.693126	0.56070	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.67	5.67	0.87673	10.003000	0.99689	11.936000	0.99985	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.771	0.96363	968	0.07033	.;.;Carboxylesterase, type B	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2162.98	34	chr3	174280537	.	G	A	2162.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=852;ExcessHet=0.0000;FS=2.819;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=0.617;SOR=0.503	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1063	20	0	1	0
chr3	175755275	175755275	T	A	exonic	NAALADL2	.	nonsynonymous SNV	NAALADL2:NM_207015:exon13:c.T2046A:p.S682R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.933	P	0.386	B	0.013	N	1.000	N	0.345	N	1.51	T	-1.022	T	0.037	T	0.219	1.830	12.08	-1.01	-0.399	-1.178	7.139	0.088	0.0105425088211	.	.	8.329e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs759085686	2.737e-06	2.736e-06	0	5.503e-06	4.643e-05	6.4e-07	4.3e-07	1.584e-05	9.3e-06	0	0	0	0	0	0	0	0	4.643e-05	6.59e-06	6.572e-06	1.288e-05	0	2.423e-05	0	0	.	.	2.423e-05	0	0	0	0	0	0	0	0	0	0.127	0.27080	T	0.115	0.36630	T	0.933	0.52105	P	0.386	0.44011	B	0.012698	0.29088	N	0.347044	0.99999	0.08975	N	1.6	0.40776	L	1.51	0.30937	T	-1.47	0.35991	N	0.165	0.17416	-1.0216	0.23195	T	0.037	0.15943	T	10	0.07001817	0.10129	T	0.010543	0.27195	T	0.088	0.25558	0.442	0.49811	0.180583059064	0.17676	0.7862139440922992	0.78573	0.00523147958414	0.00463	0.382173538208	0.22564	T	0.001218	0.00709	T	-0.387567	0.02789	T	-0.612961	0.11746	T	0.312164783477783	0.25503	T	.	.	.	0.0941607	0.22132	0.10972279	0.26447	0.0941607	0.22132	0.10972279	0.26446	-5.735	0.44004	T	.	.	0.384	0.58640	A	.	.	-0.197316	0.03103	0.492	0.97910099946511597	0.36808	0.24640	0.22456	N	AEFI	0.149792	0.27395	N	-0.753175404998671	0.14547	0.7255598	-0.832951615271267	0.13698	0.7120081	1.84675998159491E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.71	-1.01	0.09650	-1.400000	0.02610	-5.731000	0.01615	-0.186000	0.09761	0.003000	0.16062	0.000000	0.08366	0.958000	0.51230	0.0:0.3494:0.1144:0.5362	7.139	0.24723	947	0.11584	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1589.98	36	chr3	175755275	.	T	A	1589.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.468;DP=959;ExcessHet=0.0000;FS=0.702;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=1.85;SOR=0.777	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr3	178842768	178842768	G	A	exonic	KCNMB2	.	nonsynonymous SNV	KCNMB2:NM_001278911:exon5:c.G539A:p.G180E	.	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.017	B	0.027	B	0.000	D	1.000	D	-0.865	N	3.11	T	-0.894	T	0.011	T	0.338	1.488	10.92	5.96	2.832	3.687	20.422	0.156	0.0135044039846	.	.	0.0002	0	0	0	0	0	0	0.0014	0.0001488	23	154602	rs781033629	8.826e-05	8.824e-05	4.765e-05	0.0001	0.0014	7.556e-05	7.102e-05	0.0012	0.0011	0	0	0	0	0	0	3.598e-06	6.624e-05	0.0014	3.94e-05	3.937e-05	2.57e-05	5.373e-05	0.0010	1.715e-05	1.129e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.47e-05	0	0.0010	0.376	0.11334	T	1.0	0.01155	T	0.017	0.17573	B	0.027	0.21085	B	0.000011	0.62929	D	0.154746	0.999832	0.49637	D	-0.05	0.04954	N	3.11	0.08194	T	0.09	0.05917	N	0.142	0.23884	-0.8943	0.48549	T	0.011	0.04321	T	10	0.0176996	0.00379	T	0.013504	0.32951	T	0.156	0.40720	0.463	0.53242	0.043077524339	0.03247	0.6878217481705801	0.68722	1.03228781939	0.75458	0.641217827797	0.58737	T	0.031822	0.22214	T	-0.488675	0.00661	T	-0.504804	0.21850	T	0.0582015658936055	0.06883	T	0.864914	0.56300	D	0.1584665	0.35649	0.2963199	0.55664	0.1584665	0.35649	0.2963199	0.55663	-1.632	0.02058	T	.	.	0.160	0.38693	B	.;.;.;.;.;.	.;.;.;.;.;.	2.719362	0.35566	19.93	0.92681095845324502	0.22167	0.96382	0.68865	D	AEFBI	0.572029	0.57577	D	-0.278118862439741	0.29995	1.668428	0.0254582013448706	0.40901	2.448394	0.991004451670188	0.32341	0.693126	0.56070	0	0.659464	0.62310	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.96	5.96	0.96695	3.364000	0.52052	11.895000	0.99196	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.422	0.99051	527	0.73864	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1460.98	34	chr3	178842768	.	G	A	1460.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.940e-01;DP=830;ExcessHet=0.0000;FS=1.438;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=1.50;SOR=0.523	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1083	20	0	1	0
chr3	179240022	179240022	T	C	exonic	KCNMB3	.	nonsynonymous SNV	KCNMB3:NM_001163677:exon4:c.A496G:p.T166A,	.	.	763	722	33	4	0	41	0.0276094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.899	P	0.395	B	.	.	1.000	D	0	N	2.26	T	-1.014	T	0.024	T	0.203	2.513	14.36	4.35	1.922	2.333	11.973	0.061	.	0.0035	0.00698882	0.0188	0	0.0122	0.0032	0.0006	0.0105	0	0.0389	0.0034088	527	154602	rs184550595	0.0073	0.0071	0.0063	0.0084	0.0414	0.0072	0.0072	0.0402	0.0397	0.0008	0.0041	0.0289	0.0003	0.0011	0.0301	0.0050	0.0094	0.0414	0.0056	0.0056	0.0049	0.0064	0.0441	0.0053	0.0052	0.0393	0.0374	0.0013	0	0.0071	0.0326	0.0004	0.0011	0.0170	0.0047	0.0133	0.0441	0.157	0.23997	T	0.038	0.51421	D	.	.	.	.	.	.	.	.	.	.	0.99799	0.81001	N	.	.	.	2.26	0.17596	T	-0.81	0.22294	N	0.111	0.09772	-1.0142	0.25593	T	0.024	0.10374	T	9	0.0035863519	0.00065	T	.	.	.	0.061	0.17616	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.562205	0.00246	T	-0.551777	0.17155	T	0.012226413319391	0.00197	T	0.29997	0.05606	T	.	.	.	.	.	.	.	.	-3.779	0.20491	T	.	.	0.137	0.29941	B	.	.	1.620727	0.20700	14.87	0.9940360828791398	0.62934	0.83452	0.42568	D	AEFGI	0.206643	0.33289	N	-0.0184429246067715	0.41021	2.446306	0.0663263132403697	0.42868	2.60055	0.677897955158269	0.22446	0.643511	0.44296	0	0.688494	0.66719	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.35	4.35	0.51454	3.584000	0.53680	4.174000	0.42293	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:0.0:1.0	11.973	0.52364	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	2702.68	37	chr3	179240022	.	T	C	2702.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.814;DP=872;ExcessHet=0.3300;FS=3.961;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=59.38;MQRankSum=0.00;QD=12.63;ReadPosRankSum=0.251;SOR=0.482	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1444	18	0	3	0
chr3	179250780	179250780	A	C	exonic	KCNMB3	.	nonsynonymous SNV	KCNMB3:NM_171830:exon1:c.T211G:p.L71V	.	.	429	1039	54	0	0	54	0.0253283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.117	B	0.106	B	0.004	N	0.740	D	0.755	N	2.99	T	-0.966	T	0.004	T	0.214	1.602	11.31	0.942	-0.050	0.473	5.147	0.017	.	0.0019	0.0223642	0.0146	0.0008	0.0032	0.0395	0	0.0034	0.0077	0.0700	0.0129817	2007	154602	rs2276802	0.0072	0.0072	0.0051	0.0092	0.0684	0.0070	0.0070	0.0670	0.0664	0.0010	0.0031	0.0127	0.0326	9.36e-05	0.0218	0.0019	0.0093	0.0684	0.0053	0.0053	0.0040	0.0067	0.0642	0.0050	0.0049	0.0584	0.0561	0.0005	0	0.0055	0.0144	0.0357	0.0002	0.0102	0.0022	0.0038	0.0642	0.439	0.09291	T	0.738	0.08161	T	0.096	0.26519	B	0.038	0.31143	B	0.004138	0.34080	N	0.282759	0.617331	0.33807	D	1.295	0.32453	L	2.99	0.09262	T	-0.14	0.11366	N	0.059	0.07398	-0.9656	0.38092	T	0.004	0.01400	T	10	0.0046563745	0.00097	T	.	.	.	0.017	0.02790	.	.	.	.	0.4353581307616459	0.43452	0.226695250779	0.25215	0.263702362776	0.05340	T	0.001194	0.00692	T	-0.628976	0.00097	T	-0.625206	0.10781	T	0.00568234835327469	0.00062	T	0.693531	0.30321	T	0.03342323	0.03559	0.027471302	0.00903	0.03342323	0.03558	0.027471302	0.00903	-5.274	0.54223	T	.	.	0.122	0.27968	B	.;.;.;.;.	.;.;.;.;.	1.193052	0.15847	12.14	0.95592976965032206	0.27316	0.52621	0.29175	D	AEFBCI	0.095312	0.19259	N	-0.470201504834976	0.23062	1.235759	-0.326274033879087	0.27252	1.51095	0.999465146575166	0.39843	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.94	0.942	0.18648	0.476000	0.21890	0.513000	0.19097	0.658000	0.54486	0.997000	0.40164	0.896000	0.27899	0.989000	0.64315	0.6203:0.1436:0.2361:0.0	5.147	0.14320	808	0.43318	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	5235.68	34	chr3	179250780	.	A	C	5235.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.132e+00;DP=1125;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.93;ReadPosRankSum=-7.530e-01;SOR=0.661	GT:AD:DP:GQ:PL	0/1:66,77:143:99:1945,0,1631	18	0	3	0
chr3	179250934	179250934	C	T	exonic	KCNMB3	.	startloss	KCNMB3:NM_171829:exon2:c.G3A:p.M1?,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.011	B	0.043	B	.	.	1.000	D	.	.	3.05	T	-1.100	T	0.025	T	.	2.963	15.88	5.2	1.582	2.667	13.467	0.169	0.0311850595628	.	.	8.237e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs200675679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.011	0.15914	B	0.043	0.24256	B	.	.	.	.	1	0.81001	D	.	.	.	3.05	0.08721	T	-0.57	0.17210	N	0.362	0.40364	-1.0996	0.04140	T	0.025	0.10866	T	8	0.8110125	0.80385	D	0.031185	0.53330	D	0.169	0.43123	0.966	0.99667	0.551838628669	0.54841	.	.	.	.	.	.	.	.	.	.	-0.0993981	0.36525	T	-0.380555	0.35657	T	0.538355231285095	0.34043	D	.	.	.	.	.	.	.	.	.	.	.	-7.494	0.57568	T	.	.	.	.	.	.	.	1.871266	0.23769	16.14	0.99443555653142057	0.64921	0.82262	0.41516	D	AEFDBCI	0.271555	0.38738	N	0.384827699892244	0.60598	4.250638	0.395840345935359	0.61309	4.329117	0.999999939280448	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.463624	0.06942	0	0.491896	0.07777	0	.	.	6.07	5.2	0.71720	2.384000	0.44017	2.097000	0.30581	0.599000	0.40250	0.998000	0.41325	0.994000	0.32194	0.948000	0.49324	0.0:0.9244:0.0:0.0756	13.467	0.60713	803	0.44167	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	804.98	38	chr3	179250934	.	C	T	804.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=847;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.15;ReadPosRankSum=-1.514e+00;SOR=0.709	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr3	179333305	179333305	G	A	exonic	ZNF639	.	nonsynonymous SNV	ZNF639:NM_001375803:exon5:c.G341A:p.C114Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.995	D	0.974	D	0.000	D	0.998	D	1.04	L	4.38	T	-1.184	T	0.037	T	0.867	3.112	16.40	5.87	2.941	4.778	20.583	0.283	0.00653095386155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.011	0.92824	D	0.995	0.67487	D	0.974	0.73157	D	0.000000	0.84330	D	0.000000	0.998283	0.44722	D	1.04	0.26193	L	3.71	0.04046	T	-0.56	0.99072	N	0.775	0.79214	-1.1839	0.00315	T	0.037	0.15899	T	10	0.5321286	0.63243	D	0.006531	0.17215	T	0.283	0.60100	0.535	0.64439	0.666472316455	0.66366	0.2011543955227833	0.20032	0.867762679245	0.69277	0.750545442104	0.74527	T	0.016813	0.48256	T	0.15504	0.69740	D	-0.0150719	0.69354	D	0.83831399679184	0.49190	D	0.793221	0.44280	T	0.6495259	0.75338	0.62037164	0.77886	0.6495259	0.75339	0.62037164	0.77887	-2.609	0.06572	T	.	.	0.161	0.47027	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.659630	0.51986	23.2	0.99595059477394743	0.73866	0.87451	0.46995	D	AEFBHCI	0.745795	0.68836	D	0.679670836047894	0.78300	6.843895	0.718759423085798	0.83802	8.118763	0.784569897708645	0.23906	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	4.907000	0.62996	9.864000	0.82078	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.583	0.99411	687	0.59234	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1403.98	35	chr3	179333305	.	G	A	1403.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.140e-01;DP=804;ExcessHet=0.0000;FS=6.408;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=0.852;SOR=0.317	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1104	20	0	1	0
chr3	179604915	179604915	A	C	exonic	NDUFB5	.	nonsynonymous SNV	NDUFB5:NM_001199957:exon1:c.A100C:p.T34P	.	.	427	1059	36	0	0	36	0.0167131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.994	D	0.925	D	0.017	N	1.000	N	2.38	M	0.88	T	-0.932	T	0.145	T	0.605	4.032	20.7	2.03	0.504	0.465	4.583	0.202	.	0.0075	0.00479233	0.0103	0.0011	0.0075	0	0.0215	0.0136	0.0184	0.0048	0.0086545	1338	154602	rs35399127	0.0092	0.0092	0.0093	0.0091	0.0415	0.0091	0.0090	0.0372	0.0355	0.0028	0.0066	0.0255	5.081e-05	0.0176	0.0415	0.0092	0.0105	0.0041	0.0080	0.0080	0.0073	0.0087	0.0099	0.0076	0.0075	0.0090	0.0088	0.0017	0.0044	0.0099	0.0234	0	0.0199	0.0408	0.0096	0.0105	0.0025	0.079	0.55530	T	0.136	0.44702	T	0.994	0.66517	D	0.925	0.65999	D	0.017428	0.27726	N	0.392684	0.999622	0.20843	N	2.74	0.80084	M	0.88	0.53731	T	-1.85	0.45769	N	0.353	0.56231	-0.9317	0.43889	T	0.145	0.46859	T	10	0.009079367	0.00205	T	.	.	.	0.202	0.48754	.	.	0.534814951121	0.53131	0.7674110700333394	0.76690	0.646346701716	0.58049	0.545248329639	0.45187	T	0.081848	0.36692	T	-0.35028	0.04709	T	-0.266534	0.48170	T	0.0529844322233862	0.06016	T	0.70273	0.32446	T	0.33476305	0.55858	0.3759712	0.62729	0.33476305	0.55858	0.3759712	0.62729	-2.545	0.10887	T	.	.	0.083	0.15160	B	.;.;.;.	.;.;.;.	3.385467	0.46848	22.4	0.99351467137641836	0.60615	0.02986	0.07840	N	ALL	0.174802	0.30195	N	0.084213362616481	0.45728	2.824432	0.0279185460009141	0.41016	2.457187	0.999999999957909	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.75	2.03	0.25714	0.473000	0.21843	0.748000	0.21214	-0.053000	0.16966	0.458000	0.26628	0.000000	0.08366	0.993000	0.69303	0.5101:0.323:0.1668:0.0	4.583	0.11663	698	0.58074	.;.;.;.	.	.	.	.	rs35399127	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1251.11	36	chr3	179604915	.	A	C	1251.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.406;DP=798;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.17;ReadPosRankSum=0.00;SOR=0.687	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1339	19	0	2	0
chr3	179875393	179875393	T	C	exonic	PEX5L	.	nonsynonymous SNV	PEX5L:NM_001349404:exon2:c.A14G:p.K5R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.455	P	0.069	B	0.000	D	0.833	D	0.145	N	-2.32	D	-0.070	T	0.405	T	0.407	3.124	16.44	5.88	2.250	2.889	12.983	0.243	0.0495455773261	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1168289704	6.843e-07	6.841e-07	1.362e-06	0	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	6.573e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.159	0.54683	T	0.5	0.17014	T	0.001	0.09854	B	0.001	0.10090	B	0.000131	0.49741	D	0.208224	0.833021	0.34947	D	-0.285	0.03692	N	-2.41	0.88533	D	-0.58	0.62151	N	0.149	0.28028	-0.0705	0.80769	T	0.405	0.75480	T	10	0.17771786	0.32821	T	0.049546	0.63858	D	0.243	0.54921	0.177	0.08379	0.850612038419	0.84917	0.052743420041366534	0.05216	0.332146085643	0.35272	0.558086872101	0.46998	T	0.14757	0.48571	T	-0.0127884	0.49874	T	-0.159292	0.58416	T	0.355630586668074	0.27238	T	0.924308	0.87805	D	0.09883906	0.23318	0.102368966	0.24533	0.09883906	0.23318	0.102368966	0.24533	-2.884	0.13290	T	.	.	0.068	0.15832	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.443452	0.31453	18.75	0.98374719373518138	0.40791	0.83854	0.42947	D	AEFI	0.526466	0.54881	D	-0.115640796306405	0.36710	2.125712	0.10890525433459	0.45004	2.771324	0.74846796713477	0.23321	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.88	5.88	0.94564	2.924000	0.48572	5.082000	0.47276	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:0.1434:0.8566	12.983	0.57974	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	652.74	158	chr3	179875393	.	T	C	652.74	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-5.375e+00;DP=2194;ExcessHet=0.3300;FS=111.995;InbreedingCoeff=-0.0784;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=1.15;ReadPosRankSum=1.70;SOR=10.986	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485	18	0	3	0
chr3	180616670	180616670	C	T	exonic	CCDC39	.	nonsynonymous SNV	CCDC39:NM_181426:exon18:c.G2432A:p.R811H,	Ciliary dyskinesia, primary, 14	.	91	1397	29	5	0	39	0.0137663	.	.	173761	not_provided|not_specified|Primary_ciliary_dyskinesia_14|Primary_ciliary_dyskinesia	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013434,MedGen:C3151136,OMIM:613807,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.992	D	0.562	P	.	.	1.000	D	2.645	M	-1.25	T	-0.379	T	0.187	T	0.431	4.032	20.7	5.14	2.671	3.227	10.436	0.388	.	0.0033	0.0125799	0.0102	0.0021	0.0078	0.0672	0.0013	0.0052	0.0039	0.0091	0.0068046	1052	154602	rs61733583	0.0050	0.0050	0.0049	0.0051	0.0440	0.0049	0.0048	0.0423	0.0416	0.0016	0.0057	0.0069	0.0440	0.0004	0.0180	0.0035	0.0075	0.0068	0.0051	0.0052	0.0049	0.0054	0.0512	0.0048	0.0047	0.0462	0.0442	0.0018	0	0.0077	0.0063	0.0512	0.0006	0.0034	0.0038	0.0047	0.0068	0.005	0.63226	D	0.064	0.44905	T	0.992	0.64738	D	0.562	0.49608	P	.	.	.	.	0.992986	0.81001	D	2.565	0.75005	M	-1.25	0.79072	T	-3.12	0.63782	D	0.429	0.46835	-0.3785	0.72698	T	0.187	0.53707	T	8	0.005194932	0.00113	T	.	.	.	0.388	0.70440	.	.	0.798611091458	0.79673	.	.	0.321630559139	0.34361	0.318488717079	0.13191	T	0.041716	0.25949	T	-0.295907	0.09051	T	-0.152264	0.59042	T	0.0232063556498541	0.01047	T	0.819518	0.47762	T	0.1524037	0.34598	0.14279647	0.33959	0.13467056	0.31280	0.124521025	0.30012	-5.357	0.40504	T	.	.	.	.	.	.	.	4.940641	0.81535	27.6	0.99947000166715183	0.99913	0.83296	0.42424	D	AEFGBCI	0.380059	0.46284	N	0.528086855526089	0.68757	5.261348	0.517918607435478	0.69197	5.326065	0.998145951419719	0.36487	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	5.14	5.14	0.70008	3.277000	0.51358	4.829000	0.45183	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7886:0.1367:0.0747	10.436	0.43621	605	0.67457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2509.11	36	chr3	180616670	.	C	T	2509.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.90;DP=896;ExcessHet=0.1072;FS=2.388;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=0.429;SOR=0.864	GT:AD:DP:GQ:PL	0/1:50,52:102:99:1338,0,1144	19	0	2	0
chr3	182836065	182836065	G	A	exonic	ATP11B	.	nonsynonymous SNV	ATP11B:NM_014616:exon5:c.G346A:p.D116N,	.	.	437	1081	4	0	0	4	0.00184672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.015	H	-2.04	D	0.991	D	0.854	D	0.35	5.137	32	5.13	2.366	9.476	18.578	0.823	0.431456452617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	1.362e-06	2.751e-06	3.48e-05	5.5e-07	1.5e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	0	3.48e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.245	0.98026	H	-2.04	0.85703	D	-4.61	0.82341	D	0.721	0.81857	0.991	0.97035	D	0.854	0.95125	D	10	0.8559871	0.84795	D	0.431456	0.93990	D	0.823	0.94353	0.56	0.67958	0.97858501267	0.97835	0.944116660161689	0.94393	1.74758098799	0.90959	0.834270119667	0.87217	D	0.437916	0.81818	T	0.17251	0.71354	D	0.0100217	0.70983	D	0.999798953533173	0.99036	D	1.000	0.99817	D	0.8422391	0.86769	0.70177823	0.82426	0.8422391	0.86770	0.70177823	0.82427	-15.053	0.95975	D	.	.	0.983	0.91748	P	.;.	.;.	5.467314	0.91233	32	0.99929202942555928	0.99279	0.99398	0.95516	D	AEFBI	0.885299	0.81571	D	1.00086923171394	0.95771	13.94834	0.903843728286837	0.95739	13.91697	0.999999999613245	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.653264	0.51672	0	0.727631	0.95156	0	.	.	5.13	5.13	0.69729	9.602000	0.97623	8.581000	0.77646	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.578	0.91117	763	0.50172	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1938.98	33	chr3	182836065	.	G	A	1938.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.809e+00;DP=866;ExcessHet=0.0000;FS=1.206;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-9.390e-01;SOR=0.563	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1242	20	0	1	0
chr3	183379378	183379378	G	A	exonic	MCF2L2	.	nonsynonymous SNV	MCF2L2:NM_015078:exon3:c.C194T:p.T65M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.993	D	0.001	D	0.692	D	2.675	M	-0.05	T	0.237	D	0.446	T	0.658	3.453	17.69	4.59	1.439	4.603	13.180	0.314	0.042092774022	0.0003	.	0.0003	0	0.0003	0	0	0.0005	0	0	0.0002458	38	154602	rs200353022	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0003	0.0003	0.0001	0.0005	0.0040	0	9.368e-05	0.0002	0.0002	0.0005	0	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0001	0.0002	0.0001	0	0	0.0004	0.0029	0	9.422e-05	0	0.0002	0.0005	0	0.001	0.78490	D	0.007	0.74150	D	1.0	0.90584	D	0.993	0.81110	D	0.000721	0.42129	D	0.214818	0.692141	0.33337	D	2.75	0.80375	M	-0.05	0.63403	T	-4.02	0.80340	D	0.808	0.81957	0.237	0.86537	D	0.446	0.78209	T	10	0.034393996	0.01646	T	0.042093	0.60282	D	0.314	0.63588	.	.	0.863614663845	0.86229	0.8776161832569945	0.87728	0.714357934396	0.61881	0.595325767994	0.52245	T	0.077352	0.35633	T	-0.0926492	0.37638	T	-0.0807176	0.64851	T	0.294734567403793	0.24786	T	0.983302	0.94582	D	0.2013564	0.42143	0.25767472	0.51488	0.2013564	0.42143	0.25767472	0.51487	-9.737	0.72480	D	.	.	0.228	0.46037	B	.;.;.;.;.;.	.;.;.;.;.;.	4.741089	0.76452	26.5	0.99901175500161477	0.97275	0.87529	0.47098	D	AEFBI	0.454476	0.50717	N	0.673489635596879	0.77896	6.763797	0.603698854282559	0.75210	6.27009	0.919846800638901	0.26614	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.47	4.59	0.56297	5.080000	0.64267	8.706000	0.78122	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0786:0.0:0.9214:0.0	13.180	0.59069	506	0.75555	CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain;.;.;.;CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1821.98	35	chr3	183379378	.	G	A	1821.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.866;DP=878;ExcessHet=0.0000;FS=2.815;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.85;ReadPosRankSum=-1.162e+00;SOR=0.479	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1293	20	0	1	0
chr3	183389769	183389769	C	T	exonic	MCF2L2	.	nonsynonymous SNV	MCF2L2:NM_015078:exon2:c.G87A:p.M29I,	.	.	427	1068	24	3	0	30	0.0138504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.983	D	0.885	P	0.000	D	1.000	D	2.625	M	4.59	T	-0.439	T	0.269	T	0.425	4.211	21.9	4.79	2.353	6.267	16.956	0.211	0.0232574772145	0.0013	0.00119808	0.0027	0	0.0022	0	0	0.0030	0.0044	0.0059	0.0023932	370	154602	rs61752076	0.0017	0.0017	0.0015	0.0019	0.0116	0.0017	0.0016	0.0094	0.0086	0.0005	0.0023	0.0206	0	1.872e-05	0.0116	0.0009	0.0036	0.0063	0.0018	0.0018	0.0017	0.0018	0.0069	0.0016	0.0015	0.0050	0.0044	0.0002	0	0.0024	0.0213	0	0	0.0170	0.0015	0.0047	0.0069	0.006	0.63226	D	0.013	0.92824	D	0.164	0.60381	B	0.036	0.62825	B	0.000000	0.84330	D	0.000000	0.999583	0.47691	D	2.61	0.76335	M	4.56	0.44461	T	-2.34	0.59389	N	0.57	0.59308	-0.4387	0.70774	T	0.269	0.64066	T	10	0.0058627725	0.00225	T	0.023257	0.46211	T	0.211	0.50185	0.354	0.35408	0.699295303354	0.69669	0.7719261515607554	0.77142	0.364487451993	0.38064	0.625366687775	0.56489	T	0.084621	0.37319	T	-0.390272	0.02679	T	-0.330764	0.41383	T	0.0727788167714638	0.09036	T	0.961204	0.90223	D	0.47927946	0.65856	0.42337087	0.66210	0.47927946	0.65857	0.42337087	0.66210	-6.157	0.51463	T	.	.	0.550	0.70227	A	.;.;.;.;.;.	.;.;.;.;.;.	3.971847	0.58326	24.0	0.99787139048263984	0.87308	0.94675	0.61946	D	AEFDBI	0.691986	0.65180	D	0.570421412318507	0.71333	5.63512	0.571583180467694	0.72910	5.885064	0.999999990934825	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.79	4.79	0.60909	6.673000	0.74320	3.464000	0.38534	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	16.956	0.86131	506	0.75555	CRAL-TRIO lipid binding domain;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1803.98	33	chr3	183389769	.	C	T	1803.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.527e+00;DP=842;ExcessHet=0.0000;FS=3.856;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=1.07;SOR=0.446	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1220	20	0	1	0
chr3	183758886	183758886	C	T	exonic	YEATS2	.	nonsynonymous SNV	YEATS2:NM_001351369:exon13:c.C1577T:p.T526M	.	.	.	.	.	.	.	.	.	.	.	2210910	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.99	D	0.27	B	0.075	N	0.991	N	0.345	N	1.51	T	-1.044	T	0.033	T	0.107	2.644	14.80	3.29	1.182	0.550	3.882	0.109	0.0113442877462	8.5e-05	.	9.116e-05	0	0	0	0	0.0002	0	0	8.41e-05	13	154602	rs373289746	8.593e-05	9.304e-05	8.958e-05	8.223e-05	0.0002	7.302e-05	6.885e-05	8.345e-05	7.76e-05	3.093e-05	0.0002	0	0	0	0	9.855e-05	6.695e-05	3.681e-05	3.943e-05	3.94e-05	2.57e-05	5.38e-05	6.55e-05	1.715e-05	1.129e-05	1.171e-05	6.25e-06	4.826e-05	0	6.55e-05	0	0	0	0	4.409e-05	0	0	0.011	0.55530	D	0.072	0.43344	T	0.99	0.63424	D	0.27	0.39872	B	0.074841	0.21260	N	0.453535	0.990567	0.24154	N	0.55	0.14455	N	1.51	0.30937	T	-1.57	0.37955	N	0.253	0.28616	-1.0435	0.16265	T	0.033	0.14160	T	10	0.112817526	0.21175	T	0.011344	0.28865	T	0.109	0.30843	.	.	0.043077524339	0.03247	0.11601260633545254	0.11529	0.192475934994	0.21576	0.354830294847	0.18631	T	0.022156	0.17132	T	-0.420323	0.01702	T	-0.61584	0.11515	T	0.0722622731742594	0.08965	T	0.805819	0.45382	T	0.024664551	0.01321	0.040314913	0.04329	0.024664551	0.01321	0.040314913	0.04329	-4.525	0.31214	T	.	.	0.082	0.08948	B	.	.	2.678451	0.34935	19.76	0.99289152717998108	0.58184	0.70967	0.34812	D	AEFBI	0.064829	0.12610	N	0.0369714838670608	0.43544	2.645267	0.102327946882138	0.44668	2.744054	0.0108805896736687	0.12096	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.22	3.29	0.36801	0.579000	0.23490	0.590000	0.19811	0.549000	0.26987	0.988000	0.36536	0.000000	0.08366	0.980000	0.58198	0.1313:0.4433:0.3317:0.0936	3.882	0.08587	644	0.63734	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	647.98	34	chr3	183758886	.	C	T	647.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.063;DP=764;ExcessHet=0.0000;FS=1.943;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.76;ReadPosRankSum=1.53;SOR=0.988	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1069	20	0	1	0
chr3	183833522	183833522	G	A	exonic	PARL	.	nonsynonymous SNV	PARL:NM_001324437:exon7:c.C746T:p.A249V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.985	D	0.842	P	0.000	D	1.000	D	1.9	L	2.75	T	-0.494	T	0.359	T	0.899	5.428	35	5.63	2.814	9.869	18.224	0.256	0.023301261884	7.7e-05	0.000399361	4.123e-05	9.641e-05	0	0.0003	0	0	0	6.063e-05	4.53e-05	7	154602	rs200914846	2.123e-05	2.121e-05	1.771e-05	2.477e-05	0.0004	1.521e-05	1.325e-05	0.0003	0.0002	0	0	0	0.0004	0	0	7.202e-06	4.972e-05	4.638e-05	1.971e-05	1.969e-05	2.571e-05	1.344e-05	0.0002	5.24e-06	2.45e-06	.	.	2.408e-05	0	0	0	0.0002	0	0	0	0	0.0002	0.0	0.91255	D	0.052	0.47581	T	0.964	0.61118	D	0.749	0.60272	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.15	0.60148	M	2.52	0.14160	T	-3.83	0.72120	D	0.893	0.89242	-0.4945	0.68847	T	0.359	0.72108	T	10	0.5411979	0.63729	D	0.023301	0.46253	T	0.440	0.74377	.	.	0.806639463257	0.80482	0.9212983865608144	0.92105	0.174593514633	0.19662	0.738117814064	0.72695	T	0.188691	0.57049	T	0.105263	0.64856	D	0.094955	0.76574	D	0.837149977684021	0.49096	D	0.90461	0.80130	D	0.87109786	0.88948	0.83844185	0.90735	0.87109786	0.88949	0.83844185	0.90736	-11.5	0.83002	D	.	.	0.481	0.75966	A	.;.;.;.;.	.;.;.;.;.	5.834744	0.93754	33	0.99897262271100851	0.96971	0.99621	0.98069	D	AEFDBI	0.923384	0.89980	D	0.600037503795509	0.73178	5.923791	0.685204867481171	0.81256	7.484157	0.999999999997461	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	10.003000	0.99689	11.797000	0.96542	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.224	0.89849	604	0.67577	.;Peptidase S54, rhomboid domain;Peptidase S54, rhomboid domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1811.98	33	chr3	183833522	.	G	A	1811.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.800e-01;DP=826;ExcessHet=0.0000;FS=0.762;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.04;ReadPosRankSum=0.337;SOR=0.592	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1018	20	0	1	0
chr3	184038270	184038270	C	T	exonic	HTR3D	.	stopgain	HTR3D:NM_182537:exon4:c.C391T:p.R131X	.	.	415	1103	3	1	0	5	0.00226142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	1.634	11.42	-3.69	-0.626	-0.261	0.144	.	.	.	0.000199681	6.596e-05	0	0	0	0	0.0001	0	6.063e-05	6.47e-05	10	154602	rs187259526	7.115e-05	7.114e-05	6.943e-05	7.289e-05	0.0003	5.981e-05	5.589e-05	7.136e-05	6.627e-05	2.987e-05	2.236e-05	0	0	0	0.0003	8.544e-05	6.624e-05	1.159e-05	5.255e-05	5.25e-05	5.14e-05	5.374e-05	0.0001	2.556e-05	1.83e-05	4.766e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.129	0.12341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.565067	0.00237	T	-0.844905	0.01028	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	6.606353	0.95474	35	0.90526566090908256	0.19783	0.06071	0.12043	N	AEFDBCI	0.044392	0.07137	N	-1.10758490258489	0.06507	0.2997444	-1.31684360719839	0.04212	0.1982077	0.205389087088299	0.18174	0.603402	0.35316	0	0.59043	0.45803	0	0.547309	0.15389	0	0.663205	0.64265	0	.	.	3.52	-3.69	0.04162	-0.194000	0.09559	-2.442000	0.03749	-2.974000	0.00147	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3019:0.2414:0.1491:0.3076	0.144	0.00080	238	0.90711	Neurotransmitter-gated ion-channel transmembrane domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	811.98	58	chr3	184038270	.	C	T	811.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.705;DP=1246;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.92;ReadPosRankSum=0.126;SOR=0.579	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	20	0	1	0
chr3	184187749	184187749	C	T	exonic	ABCF3	.	nonsynonymous SNV	ABCF3:NM_001351298:exon5:c.C416T:p.T139I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.005	B	0.019	B	0.016	N	1.000	D	0.345	N	-2.91	D	-0.064	T	0.574	D	0.109	3.002	16.01	4.57	2.098	5.612	16.356	0.233	0.0561618225424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.23095	T	0.16	0.31427	T	0.003	0.12996	B	0.009	0.18783	B	0.015694	0.28177	N	0.370552	1	0.81001	D	0.55	0.14455	N	-2.91	0.91748	D	-1.18	0.30140	N	0.221	0.26354	-0.0642	0.80904	T	0.574	0.84595	D	10	0.17629325	0.32606	T	0.056162	0.66504	D	0.233	0.53499	0.28	0.23483	0.915065264479	0.91420	0.1954715853570167	0.19464	0.285556785333	0.30958	0.480643033981	0.36146	T	0.079707	0.36192	T	-0.0193114	0.48951	T	-0.265516	0.48272	T	0.716307699680328	0.41513	D	0.79772	0.44184	T	0.116875015	0.27560	0.08444595	0.19427	0.116875015	0.27560	0.08444595	0.19427	-4.678	0.33137	T	.	.	0.080	0.27791	B	.;.	.;.	3.046993	0.40872	21.2	0.99403666593351847	0.62934	0.94129	0.60200	D	AEFDBCI	0.704277	0.66005	D	-0.138936142963524	0.35706	2.054394	0.0553265969558257	0.42331	2.558462	0.999999999998707	0.74766	0.732398	0.92422	0	0.662677	0.63036	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	4.57	4.57	0.55860	5.691000	0.67911	3.993000	0.41005	0.599000	0.40250	0.963000	0.33788	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	16.356	0.83067	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1027.98	40	chr3	184187749	.	C	T	1027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.645e+00;DP=839;ExcessHet=0.0000;FS=0.731;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.18;ReadPosRankSum=1.74;SOR=0.793	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1252	20	0	1	0
chr3	184233342	184233342	C	G	exonic	VWA5B2	.	nonsynonymous SNV	VWA5B2:NM_138345:exon3:c.C475G:p.L159V,	.	.	411	1108	3	0	0	3	0.00135196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.767	P	0.344	B	.	.	1.000	D	0.895	L	0.56	T	-1.085	T	0.098	T	0.288	0.437	6.373	4.24	2.357	0.975	8.172	0.059	0.0140745481934	.	.	0.0003	0	0	0	0	0.0008	0	0	5.82e-05	9	154602	rs756695116	0.0001	0.0001	0.0001	0.0001	0.0050	9.853e-05	9.308e-05	0.0035	0.0030	3.193e-05	0	0.0025	0	0.0002	0.0050	2.889e-05	0.0004	3.9e-05	0.0002	0.0002	0.0001	0.0002	4.411e-05	0.0001	8.712e-05	1.171e-05	6.25e-06	0	0	0	0.0052	0	0	0.0068	4.411e-05	0	0	0.42	0.09836	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	1.78	0.46185	L	0.56	0.54540	T	-0.37	0.13226	N	0.268	0.30347	-1.0846	0.06480	T	0.098	0.36780	T	9	0.014487684	0.00305	T	0.014075	0.33954	T	0.059	0.16972	0.212	0.13066	0.316494231283	0.31262	0.41719280051419944	0.41635	0.883172336007	0.69846	0.52714073658	0.42632	T	0.00172	0.01148	T	-0.235239	0.15962	T	-0.431272	0.29791	T	0.0331031200435844	0.02488	T	0.680232	0.28883	T	0.07713111	0.17487	0.1138383	0.27476	0.07713111	0.17487	0.1138383	0.27475	-3.623	0.18190	T	.	.	0.088	0.11845	B	.	.	2.917028	0.38715	20.8	0.89469559176289826	0.18823	0.75066	0.36738	D	AEFDBI	0.344483	0.43995	N	-0.12121776389236	0.36470	2.108435	-0.0868420942782797	0.35934	2.084877	0.38794376313017	0.20020	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	4.24	4.24	0.49486	1.125000	0.30946	3.320000	0.37537	0.599000	0.40250	0.641000	0.28093	0.998000	0.33993	0.816000	0.38450	0.0:0.8917:0.0:0.1083	8.172	0.30421	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1301.98	36	chr3	184233342	.	C	G	1301.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.460e-01;DP=784;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.69;ReadPosRankSum=-7.750e-01;SOR=0.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1337	20	0	1	0
chr3	184236371	184236371	T	C	exonic	VWA5B2	.	nonsynonymous SNV	VWA5B2:NM_001320373:exon7:c.T584C:p.I195T	.	.	.	.	.	.	.	.	.	.	.	2367648	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.001	B	0.007	B	0.612	N	1.000	N	1.905	M	2.8	T	-1.017	T	0.031	T	0.281	1.592	11.28	1.45	0.354	1.103	8.171	0.065	0.00574901864483	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1337694929	1.506e-05	1.436e-05	2.119e-05	8.734e-06	0.0004	9.68e-06	8.21e-06	9.131e-05	6.518e-05	0	0.0002	0	0	0	0.0004	9.296e-06	0	2.527e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	0.0002	5.24e-06	2.45e-06	2.26e-05	9.07e-06	0	0	0.0001	0	0.0002	0	0	0	0	0	0.054	0.38633	T	0.006	0.70582	D	0.001	0.07471	B	0.007	0.12992	B	0.611585	0.10861	N	0.763914	0.999999	0.08975	N	.	.	.	2.8	0.11082	T	-3.42	0.67241	D	0.319	0.35938	-1.0173	0.24592	T	0.031	0.13504	T	10	0.08947706	0.15504	T	0.005749	0.14922	T	0.065	0.18881	.	.	0.0716867268079	0.06686	0.6679094244911182	0.66728	0.79444620701	0.65975	0.318302154541	0.13163	T	0.073733	0.34768	T	-0.362894	0.03969	T	-0.49462	0.22907	T	0.0860626399517059	0.10744	T	0.659134	0.26825	T	0.24305838	0.47240	0.33125335	0.58986	0.24305838	0.47240	0.33125335	0.58986	-6.457	0.49953	T	.	.	0.102	0.17827	B	.;.	.;.	1.293432	0.16946	12.86	0.9038397965736894	0.19646	0.02714	0.07370	N	AEFDBI	0.084136	0.17050	N	-0.630478915328007	0.18033	0.9330001	-0.648028614369728	0.18266	0.9750513	0.0589459519340923	0.15144	0.403107	0.06075	0	0.547309	0.14657	0	0.056198	0.00348	3	0.562822	0.20929	0	.	.	5.09	1.45	0.21708	1.508000	0.35376	1.873000	0.29400	0.665000	0.62972	0.008000	0.17931	0.025000	0.21018	0.758000	0.36073	0.0:0.2118:0.0:0.7882	8.171	0.30414	884	0.28482	von Willebrand factor, type A;von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1309.98	33	chr3	184236371	.	T	C	1309.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.370e-01;DP=889;ExcessHet=0.0000;FS=2.247;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.00;ReadPosRankSum=-7.300e-02;SOR=0.663	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1067	20	0	1	0
chr3	184240010	184240010	G	A	exonic	VWA5B2	.	nonsynonymous SNV	VWA5B2:NM_001320373:exon13:c.G2060A:p.G687E	.	.	429	1087	6	0	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.003	B	0.003	B	0.278	N	1.000	N	0.695	N	3.11	T	-0.991	T	0.020	T	0.192	-0.441	1.954	3.04	1.387	1.817	5.483	0.037	0.003542182129	.	0.000199681	0.0007	0	0	0	0	0	0	0.0017	6.47e-05	10	154602	rs553549547	0.0001	9.577e-05	3.534e-05	0.0002	0.0016	8.636e-05	8.154e-05	0.0014	0.0013	0	0	0	0	0	0.0011	4.641e-06	1.729e-05	0.0016	3.94e-05	3.937e-05	1.285e-05	6.713e-05	0.0010	1.714e-05	1.129e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.47e-05	0	0.0010	1.0	0.00964	T	0.906	0.02996	T	0.003	0.11197	B	0.003	0.08700	B	0.278242	0.14994	N	0.553652	1	0.81001	D	.	.	.	3.11	0.15376	T	0.15	0.05310	N	0.105	0.15328	-0.9912	0.32295	T	0.020	0.08593	T	10	0.008846343	0.00200	T	0.003542	0.08062	T	0.037	0.09474	.	.	0.144782658237	0.14088	0.4314779903202297	0.43064	0.796211368406	0.66052	0.519026637077	0.41489	T	0.010766	0.09688	T	-0.538744	0.00341	T	-0.592197	0.13476	T	0.0301680326296846	0.02016	T	0.656534	0.26618	T	0.042423517	0.06430	0.073265545	0.15901	0.042423517	0.06430	0.073265545	0.15901	-3.404	0.15110	T	.	.	0.094	0.20078	B	.;.	.;.	2.542118	0.32887	19.18	0.77056614838713156	0.11718	0.21009	0.21248	N	AEFDBCI	0.248379	0.36879	N	-0.452705771982135	0.23648	1.271405	-0.265096833274056	0.29256	1.637664	0.797930697821738	0.24134	0.569682	0.32691	0	0.550933	0.16991	0	0.578056	0.29568	0	0.567339	0.31927	0	.	.	4.85	3.04	0.34171	2.692000	0.46685	5.133000	0.47665	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.2833:0.0:0.7167:0.0	5.483	0.16026	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	605.98	36	chr3	184240010	.	G	A	605.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.95;DP=743;ExcessHet=0.0000;FS=3.641;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.54;ReadPosRankSum=-3.810e-01;SOR=1.638	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1218	20	0	1	0
chr3	184291090	184291090	T	A	exonic	ECE2;EEF1AKMT4-ECE2	.	nonsynonymous SNV	ECE2:NM_001037324:exon16:c.T1798A:p.S600T	.	.	427	1086	9	0	0	9	0.00412655	.	.	2783350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.46	T	0.988	D	0.998	D	0.000	D	1.000	D	0.095	N	-1.69	D	-0.215	T	0.474	T	0.611	2.672	14.89	4.94	1.855	6.139	13.448	0.534	0.0871343172307	0.0029	0.000798722	0.0023	0.0004	0.0012	0	0.0005	0.0033	0	0.0024	0.0021798	337	154602	rs149515968	0.0034	0.0034	0.0034	0.0033	0.0072	0.0033	0.0033	0.0055	0.0049	0.0005	0.0009	0.0027	0	0.0004	0.0072	0.0039	0.0035	0.0025	0.0018	0.0018	0.0021	0.0015	0.0031	0.0016	0.0016	0.0028	0.0026	0.0005	0	0.0007	0.0052	0	0	0.0102	0.0031	0.0009	0.0021	0.287	0.15149	T	0.604	0.07842	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-1.69	0.82985	D	0.41	0.03579	N	0.547	0.57348	-0.2147	0.77292	T	0.474	0.79831	T	10	0.011590838	0.00253	T	0.087134	0.74874	D	0.534	0.80426	.	.	0.804903237259	0.80307	0.8139329294986658	0.81349	0.722573599317	0.62293	0.653385102749	0.60466	T	0.220363	0.58363	T	-0.235899	0.15875	T	-0.113418	0.62337	T	0.0466854950948604	0.04907	T	0.931907	0.74652	D	0.27490404	0.50555	0.3827862	0.63257	0.27490404	0.50555	0.3827862	0.63257	-3.222	0.18016	T	.	.	0.228	0.50343	B	.;.;.;.;.	.;.;.;.;.	3.721270	0.53179	23.3	0.98275703925586155	0.39805	0.91222	0.53100	D	AEFDBCI	0.807601	0.73160	D	0.248822874876129	0.53580	3.526317	0.314346358214065	0.56382	3.801448	0.999999999938906	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.550215	0.18615	0	0.542086	0.14980	0	.	.	4.94	4.94	0.64645	6.118000	0.71287	3.524000	0.38916	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.773000	0.36634	0.0:0.0:0.0:1.0	13.448	0.60605	724	0.55085	Peptidase M13, C-terminal domain;.;.;Peptidase M13, C-terminal domain;Peptidase M13, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	590.98	39	chr3	184291090	.	T	A	590.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.49;DP=752;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.55;ReadPosRankSum=-2.190e-01;SOR=0.910	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1271	20	0	1	0
chr3	184306114	184306114	G	A	exonic	PSMD2	.	nonsynonymous SNV	PSMD2:NM_001278708:exon12:c.G1373A:p.R458H	.	.	413	1106	3	0	0	3	0.0013544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.998	D	0.976	D	0.000	D	1.000	D	2.455	M	1.89	T	-0.884	T	0.191	T	0.92	5.867	36	6.0	2.855	9.371	20.495	0.469	0.0566363054021	7.7e-05	.	4.942e-05	0	8.637e-05	0	0	7.492e-05	0	0	5.17e-05	8	154602	rs370492527	5.404e-05	5.404e-05	5.173e-05	5.638e-05	6.956e-05	4.41e-05	4.082e-05	5.161e-05	4.738e-05	0	2.236e-05	0	0	0	0	6.385e-05	1.656e-05	6.956e-05	3.286e-05	3.283e-05	3.855e-05	2.69e-05	7.35e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0	0	0.094	0.41637	T	0.059	0.49390	T	0.998	0.73220	D	0.976	0.73562	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	1.88	0.23884	T	-2.2	0.49519	N	0.684	0.69474	-0.8844	0.49406	T	0.191	0.54301	T	10	0.672343	0.70787	D	0.056636	0.66676	D	0.469	0.76355	.	.	0.811863487749	0.81009	0.6537252452228763	0.65308	1.73630748658	0.90807	0.819635391235	0.84972	D	0.245519	0.61483	T	0.105433	0.64874	D	0.11727	0.78053	D	0.498622417449951	0.32579	T	0.974203	0.90777	D	0.32086882	0.54713	0.16856319	0.38825	0.32086882	0.54713	0.16856319	0.38824	-7.975	0.66648	D	.	.	0.329	0.60936	B	.;.;.	.;.;.	5.202127	0.87272	29.2	0.99932334987297422	0.99439	0.97881	0.77832	D	AEFBCI	0.961694	0.98302	D	0.889574296025712	0.91241	10.78418	0.89943426548446	0.95547	13.72789	0.999999999999827	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.0	6.0	0.97371	9.496000	0.96952	9.930000	0.82573	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.495	0.99210	775	0.48401	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3716.98	33	chr3	184306114	.	G	A	3716.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.481e+00;DP=918;ExcessHet=0.0000;FS=3.591;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.36;ReadPosRankSum=-3.420e-01;SOR=0.876	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1149	20	0	1	0
chr3	184327364	184327364	C	T	exonic	EIF4G1	.	nonsynonymous SNV	EIF4G1:NM_004953:exon17:c.C2992T:p.R998W	.	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.96	D	0.005	N	1.000	D	1.1	L	3.81	T	-1.110	T	0.028	T	0.912	4.445	23.7	4.33	1.422	3.386	8.863	0.158	0.0256710619792	7.7e-05	.	5.85e-05	0	0	0	0	0.0001	0	0	4.53e-05	7	154602	rs369412977	2.19e-05	2.257e-05	1.089e-05	3.301e-05	5.797e-05	1.585e-05	1.356e-05	2.194e-05	1.43e-05	0	0	0	5.038e-05	0	0	2.068e-05	3.312e-05	5.797e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.005	0.68238	D	0.021	0.58613	D	1.0	0.90584	D	0.96	0.70309	D	0.004598	0.33588	N	0.316936	1	0.81001	D	2.52	0.73523	M	3.81	0.04544	T	-3.72	0.71519	D	0.814	0.89020	-1.1097	0.03096	T	0.028	0.11795	T	10	0.6008295	0.66902	D	0.025671	0.48627	D	0.158	0.41098	.	.	0.723952196353	0.72151	0.4572162327556008	0.45639	1.1607949559	0.79478	0.773794054985	0.77992	T	0.414285	0.76789	T	0.0817194	0.62242	D	0.0611357	0.74321	D	0.846909761428833	0.49901	D	0.943106	0.78979	D	0.24188359	0.47109	0.15485674	0.36326	0.24188359	0.47109	0.15485674	0.36325	-6.254	0.50869	T	.	.	0.222	0.52068	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	5.451585	0.91058	32	0.99917022725408644	0.98449	0.94579	0.61626	D	AEFDGBHCI	0.822999	0.74320	D	0.473064210996152	0.65524	4.833196	0.467314169389021	0.65838	4.874425	0.999999987135547	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.2	4.33	0.51083	3.436000	0.52619	4.826000	0.45158	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1826:0.7382:0.0:0.0792	8.863	0.34428	912	0.21483	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1214.98	34	chr3	184327364	.	C	T	1214.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.466;DP=789;ExcessHet=0.0000;FS=4.326;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.82;ReadPosRankSum=-4.350e-01;SOR=0.338	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr3	184328723	184328723	A	G	exonic	EIF4G1	.	nonsynonymous SNV	EIF4G1:NM_004953:exon20:c.A3461G:p.Q1154R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.003	B	0.025	B	0.000	D	1.000	D	0.49	N	1.58	T	-1.054	T	0.036	T	0.31	1.886	12.26	2.92	0.952	2.747	4.217	0.069	0.00655465067624	.	.	8.237e-06	0	0	0	0	0	0	6.056e-05	1.29e-05	2	154602	rs765574482	1.231e-05	1.231e-05	8.167e-06	1.65e-05	9.275e-05	7.7e-06	6.35e-06	4.578e-05	3.272e-05	0	0	0	0	0	0	6.295e-06	4.967e-05	9.275e-05	1.314e-05	1.313e-05	0	2.691e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.286	0.15823	T	0.746	0.04877	T	0.001	0.07471	B	0.013	0.16460	B	0.000290	0.46274	D	0.229760	1	0.81001	D	0.805	0.20218	L	1.58	0.29085	T	-0.45	0.14782	N	0.11	0.15469	-1.0536	0.13413	T	0.036	0.15726	T	10	0.122048944	0.23146	T	0.006555	0.17272	T	0.069	0.20116	0.465	0.53566	0.362142726121	0.35819	0.415085171231659	0.41424	0.427668763586	0.43109	0.410621345043	0.26543	T	0.06084	0.31495	T	-0.221574	0.17779	T	-0.459198	0.26686	T	0.29082202911377	0.24624	T	0.79772	0.44184	T	0.12667994	0.29665	0.072110675	0.15518	0.12667994	0.29665	0.072110675	0.15518	-4.507	0.30980	T	.	.	0.061	0.04119	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	3.002863	0.40130	21.1	0.9784697186978607	0.36372	0.90266	0.51306	D	AEFDGBCI	0.675672	0.64097	D	-0.340746676252011	0.27613	1.516449	-0.148517385275505	0.33466	1.914577	0.999997214130452	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.69	2.92	0.32998	3.273000	0.51326	6.143000	0.54081	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.6709:0.1289:0.0756:0.1246	4.217	0.09995	911	0.21964	Initiation factor eIF-4 gamma, MA3|Initiation factor eIF-4 gamma, MA3|Initiation factor eIF-4 gamma, MA3;.;.;.;.;.;Initiation factor eIF-4 gamma, MA3|Initiation factor eIF-4 gamma, MA3|Initiation factor eIF-4 gamma, MA3;.;.;Initiation factor eIF-4 gamma, MA3|Initiation factor eIF-4 gamma, MA3|Initiation factor eIF-4 gamma, MA3;Initiation factor eIF-4 gamma, MA3|Initiation factor eIF-4 gamma, MA3|Initiation factor eIF-4 gamma, MA3;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1792.98	41	chr3	184328723	.	A	G	1792.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.927e+00;DP=982;ExcessHet=0.0000;FS=0.664;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.34;ReadPosRankSum=-5.820e-01;SOR=0.768	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,105,1575	20	0	1	0
chr3	184383641	184383641	C	T	exonic	CHRD	.	nonsynonymous SNV	CHRD:NM_001304472:exon12:c.C1439T:p.T480M	.	.	426	1070	25	1	0	27	0.0124596	0.0002	0.432	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.075	B	0.021	B	0.501	N	0.856	N	0.205	N	0.91	T	-1.054	T	0.032	T	0.106	-1.876	0.008	-8.54	-2.917	-1.808	11.140	0.053	.	0.0009	0.00259585	0.0033	0.0003	0.0014	0	0	0.0015	0.0060	0.0194	0.0028201	436	154602	rs148110430	0.0023	0.0023	0.0018	0.0028	0.0182	0.0022	0.0022	0.0175	0.0172	0.0004	0.0014	0.0084	0	1.887e-05	0.0082	0.0011	0.0034	0.0182	0.0017	0.0017	0.0014	0.0019	0.0168	0.0015	0.0014	0.0138	0.0127	0.0004	0	0.0025	0.0095	0	0	0	0.0011	0.0019	0.0168	0.299	0.14595	T	0.195	0.28032	T	0.005	0.15914	B	0.008	0.16460	B	0.500723	0.11953	N	0.775315	1	0.28427	N	-0.895	0.01383	N	0.91	0.44856	T	0.16	0.05217	N	0.145	0.15046	-1.0543	0.13225	T	0.032	0.13635	T	10	0.005623102	0.00125	T	.	.	.	0.053	0.14996	.	.	0.3349148499	0.33108	0.267500168626317	0.26663	0.329577118065	0.35066	0.27541744709	0.06861	T	0.154211	0.49540	T	-0.670204	0.00055	T	-0.721198	0.04738	T	0.00852393164526867	0.00104	T	0.548145	0.18826	T	0.017565088	0.00283	0.05225572	0.08571	0.017565088	0.00283	0.05225572	0.08571	-7.487	0.57519	T	.	.	0.059	0.00904	B	.;.	.;.	-1.893159	0.00128	0.002	0.66460612514951911	0.08065	0.00100	0.00648	N	AEFDGBI	0.117417	0.23003	N	-2.28030372182783	0.00050	0.002165339	-2.35579059314567	0.00050	0.002186274	0.999999987198871	0.74766	0.580535	0.33130	0	0.563428	0.19063	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.27	-8.54	0.00794	-2.386000	0.01139	-6.623000	0.01348	-1.848000	0.00574	0.010000	0.18352	0.000000	0.08366	0.015000	0.10482	0.0:0.5354:0.1039:0.3607	11.140	0.47622	901	0.24189	CHRD|CHRD|CHRD;CHRD|CHRD|CHRD	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1564.98	42	chr3	184383641	.	C	T	1564.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=992;ExcessHet=0.0000;FS=0.625;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.94;ReadPosRankSum=1.31;SOR=0.772	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,114,1800	20	0	1	0
chr3	184386715	184386715	C	T	exonic	CHRD	.	nonsynonymous SNV	CHRD:NM_001304472:exon16:c.C2156T:p.A719V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.872	P	0.218	B	0.000	D	1.000	D	0.205	N	-0.59	T	-0.939	T	0.143	T	0.109	3.214	16.76	3.86	1.124	6.980	11.959	0.198	0.0598464350122	.	.	9.366e-05	0	0.0002	0.0007	0	1.717e-05	0	6.33e-05	6.47e-05	10	154602	rs368217568	4.178e-05	4.241e-05	3.407e-05	4.957e-05	0.0006	3.315e-05	3.005e-05	0.0004	0.0003	0	6.723e-05	0	0.0006	0	0	1.439e-05	3.317e-05	0.0002	1.314e-05	1.313e-05	1.284e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	0	0	0.0002	0.188	0.21467	T	0.329	0.18959	T	0.872	0.47902	P	0.218	0.37679	B	0.000002	0.62929	D	0.058209	0.993706	0.81001	D	1.045	0.26769	L	-0.59	0.71543	T	-1.7	0.44284	N	0.434	0.49237	-0.9391	0.42759	T	0.143	0.46569	T	10	0.25634682	0.43038	T	0.059846	0.67801	D	0.198	0.48105	0.678	0.81594	0.844637047116	0.84314	0.4174696809331187	0.41662	0.937855584435	0.72103	0.675249099731	0.63588	T	0.228	0.59318	T	-0.374113	0.03391	T	-0.404079	0.32910	T	0.0910724348585424	0.11345	T	0.869413	0.62852	D	0.1453266	0.33318	0.24061337	0.49439	0.1453266	0.33317	0.24061337	0.49438	-8.761	0.69337	D	.	.	0.159	0.48787	B	.;.;.	.;.;.	4.145059	0.62127	24.4	0.99707076710239806	0.81074	0.92600	0.56093	D	AEFDBHCI	0.856807	0.77410	D	-0.00396218213635874	0.41677	2.497096	0.105603523925658	0.44834	2.75761	0.999930023967538	0.46732	0.59774	0.34471	0	0.59043	0.45803	0	0.61531	0.40942	0	0.63947	0.58350	0	.	.	4.73	3.86	0.43689	7.113000	0.76730	5.934000	0.51367	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.9136:0.0:0.0864	11.959	0.52285	908	0.22609	VWFC domain|VWFC domain|VWFC domain;VWFC domain|VWFC domain|VWFC domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1316.98	37	chr3	184386715	.	C	T	1316.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.288e+00;DP=860;ExcessHet=0.0000;FS=0.705;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=-9.060e-01;SOR=0.796	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1148	20	0	1	0
chr3	184581383	184581383	G	C	exonic	EPHB3	.	nonsynonymous SNV	EPHB3:NM_004443:exon15:c.G2863C:p.D955H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.028	B	0.039	B	0.001	D	1.000	D	1.405	L	0.59	T	-0.908	T	0.135	T	0.278	1.758	11.84	4.23	2.309	6.528	12.411	0.140	0.03349267303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.566e-06	1.284e-05	0	6.543e-05	0	0	.	.	0	0	6.543e-05	0	0	0	0	0	0	0	0.035	0.43708	D	0.018	0.59732	D	0.028	0.19712	B	0.039	0.23607	B	0.000836	0.41547	D	0.218372	0.999998	0.81001	D	1.455	0.36767	L	0.59	0.53943	T	-3.28	0.65627	D	0.336	0.37717	-0.9080	0.47097	T	0.135	0.44991	T	10	0.2975844	0.47319	T	0.033493	0.55023	D	0.140	0.37593	0.61	0.74300	0.494737054661	0.49108	0.7224606370816556	0.72190	0.88970380947	0.70172	0.827126979828	0.86123	D	0.34654	0.71478	T	-0.0998896	0.36441	T	-0.381261	0.35573	T	0.956603169441223	0.64799	D	0.883212	0.60517	D	0.24393499	0.47337	0.28604928	0.54611	0.24393499	0.47337	0.28604928	0.54610	-8.962	0.67452	D	.	.	0.550	0.66790	A	.	.	4.185713	0.63049	24.5	0.98499815772854094	0.42204	0.98469	0.83105	D	AEFDGBI	0.763703	0.70072	D	0.0376009686659179	0.43572	2.647586	0.171608553668698	0.48298	3.047626	0.999999976730848	0.74766	0.549168	0.22868	0	0.610034	0.51514	0	0.590023	0.30420	0	0.562822	0.20929	0	.	.	4.23	4.23	0.49319	6.644000	0.74193	11.881000	0.98835	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.837000	0.39485	0.0:0.1698:0.8302:0.0	12.411	0.54802	513	0.74941	Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3090.98	46	chr3	184581383	.	G	C	3090.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=1128;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=-1.439e+00;SOR=0.665	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1320	20	0	1	0
chr3	184886122	184886122	G	A	exonic	VPS8	.	nonsynonymous SNV	VPS8:NM_001349296:exon20:c.G1708A:p.V570I	.	.	437	1071	14	0	0	14	0.00649351	.	.	720328	VPS8-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.44	T	0.865	P	0.421	B	0.002	N	1.000	D	1.04	L	2.07	T	-1.043	T	0.025	T	0.16	3.369	17.36	2.1	0.112	2.131	6.117	0.061	0.00888207575459	0.0043	0.000998403	0.0040	0.0015	0.0015	0	0.0002	0.0062	0.0086	0.0020	0.0028784	445	154602	rs61742617	0.0038	0.0038	0.0038	0.0038	0.0052	0.0037	0.0037	0.0044	0.0044	0.0006	0.0012	0.0017	2.527e-05	0.0004	0.0052	0.0045	0.0032	0.0018	0.0026	0.0026	0.0030	0.0021	0.0045	0.0024	0.0023	0.0041	0.0039	0.0011	0	0.0014	0.0003	0	0.0002	0.0068	0.0045	0.0052	0.0019	0.038	0.42783	D	0.122	0.35710	T	0.865	0.47557	P	0.421	0.45113	B	0.001579	0.38612	N	0.257927	0.990834	0.81001	D	1.79	0.46772	L	2.07	0.20387	T	-0.37	0.13226	N	0.261	0.31590	-1.0432	0.16354	T	0.025	0.10598	T	10	0.011211127	0.00246	T	0.008882	0.23415	T	0.061	0.17616	.	.	0.354610295913	0.35065	0.35082575116241993	0.34996	.	.	0.336408913136	0.15899	T	0.016591	0.13686	T	-0.516923	0.00458	T	-0.511994	0.21110	T	0.0160576871120795	0.00385	T	0.860314	0.55333	D	0.047003925	0.07961	0.052382987	0.08618	0.047003925	0.07961	0.052382987	0.08617	-6.081	0.46952	T	.	.	0.078	0.07412	B	.;.;.	.;.;.	1.785745	0.22700	15.73	0.99558418248310299	0.71583	0.90107	0.51028	D	AEFBI	0.183403	0.31073	N	-0.0418415516867627	0.39967	2.365649	0.013562200068986	0.40343	2.406199	2.565026486874E-4	0.06190	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.83	2.1	0.26226	2.102000	0.41421	0.130000	0.15034	0.656000	0.54149	0.997000	0.40164	0.001000	0.17328	0.999000	0.91618	0.2366:0.0:0.6434:0.1201	6.117	0.19354	744	0.52588	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1377.98	35	chr3	184886122	.	G	A	1377.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.390e-01;DP=803;ExcessHet=0.0000;FS=5.562;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=0.862;SOR=0.556	GT:AD:DP:GQ:PL	0/1:57,63:120:99:1392,0,1260	20	0	1	0
chr3	184957468	184957468	G	A	exonic	VPS8	.	nonsynonymous SNV	VPS8:NM_001349296:exon35:c.G3091A:p.V1031I	.	.	433	1085	4	0	0	4	0.00183993	.	.	804998	Flexion_contracture	Human_Phenotype_Ontology:HP:0001371,Human_Phenotype_Ontology:HP:0001372,Human_Phenotype_Ontology:HP:0001381,Human_Phenotype_Ontology:HP:0005053,Human_Phenotype_Ontology:HP:0005189,Human_Phenotype_Ontology:HP:0005660,MedGen:C0333068	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.635	P	0.227	B	0.000	D	1.000	D	2.445	M	1.06	T	-0.862	T	0.137	T	0.474	3.047	16.17	4.72	1.349	5.598	13.754	0.180	0.0167234269749	.	0.000199681	7.868e-05	0	0.0001	0	0	8.863e-05	0	0.0001	5.82e-05	9	154602	rs566967979	6.3e-05	6.293e-05	3.27e-05	9.362e-05	0.0021	5.233e-05	4.85e-05	0.0012	0.0009	2.988e-05	0	0	0	0	0.0021	3.959e-05	0.0001	0.0003	1.313e-05	1.312e-05	0	2.686e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.093	0.31834	T	0.227	0.25514	T	0.521	0.40310	P	0.111	0.38084	B	0.000069	0.52346	D	0.127025	0.996713	0.43371	D	2.485	0.72352	M	1.06	0.39781	T	-0.65	0.18877	N	0.655	0.66529	-0.8617	0.51140	T	0.137	0.45318	T	10	0.21170217	0.37606	T	0.016723	0.38109	T	0.180	0.45073	0.463	0.53242	0.267299060538	0.26338	0.31093084398566456	0.31006	.	.	0.438448250294	0.30365	T	0.067224	0.33148	T	-0.25627	0.13340	T	-0.313742	0.43255	T	0.101022997347651	0.12469	T	0.837116	0.50934	T	0.044799224	0.07223	0.055745754	0.09836	0.044799224	0.07222	0.055745754	0.09836	-8.35	0.64030	D	.	.	0.126	0.26576	B	.;.;.;.	.;.;.;.	3.082211	0.41468	21.4	0.98918993946324763	0.48527	0.93261	0.57746	D	AEFBI	0.278942	0.39310	N	0.154748971832413	0.49035	3.10865	0.22558713515716	0.51271	3.311145	0.0178508517183418	0.12995	0.732398	0.92422	0	0.709663	0.81188	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.61	4.72	0.59248	5.927000	0.69800	9.823000	0.81815	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.1543:0.8457:0.0	13.754	0.62410	699	0.57969	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2713.11	48	chr3	184957468	.	G	A	2713.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.955;DP=1066;ExcessHet=0.1072;FS=0.432;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.26;ReadPosRankSum=0.881;SOR=0.640	GT:AD:DP:GQ:PL	0/1:82,49:131:99:1061,0,1915	19	0	2	0
chr3	185192284	185192284	C	T	exonic	EHHADH	.	nonsynonymous SNV	EHHADH:NM_001166415:exon7:c.G1826A:p.G609E	.	.	429	1091	2	0	0	2	0.000915751	.	.	2205623	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.02	H	-2.14	D	0.995	D	0.867	D	0.724	3.810	19.35	5.04	1.505	7.411	15.056	0.872	0.133481035702	.	.	8.255e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs756205658	1.779e-05	1.779e-05	2.178e-05	1.375e-05	0.0010	1.237e-05	1.051e-05	0.0005	0.0003	0	0	0	0	0	0.0010	1.529e-05	4.967e-05	0	2.629e-05	2.627e-05	1.285e-05	4.037e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.8	0.95404	H	-2.14	0.86415	D	-6.32	0.90852	D	0.62	0.67822	0.995	0.97104	D	0.867	0.95563	D	10	0.88089013	0.87399	D	0.133481	0.81586	D	0.872	0.96170	.	.	0.772181008189	0.77009	0.7878781047520177	0.78739	0.488340668734	0.47638	0.659101843834	0.61280	T	0.618133	0.87992	D	0.246585	0.78279	D	0.180072	0.82000	D	0.998794913291931	0.95188	D	0.821518	0.48098	T	0.88792497	0.90330	0.8893797	0.94223	0.88792497	0.90331	0.8893797	0.94223	-6.357	0.49173	T	0.4635004436433333	0.54526	0.206	0.44501	B	.;.	.;.	4.344390	0.66670	25.0	0.99718419724658347	0.81843	0.98695	0.85684	D	AEFBI	0.963939	0.98596	D	0.930589691440089	0.93175	11.86943	0.823182291133371	0.91357	10.84565	0.999438668646207	0.39683	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.91	5.04	0.67293	7.492000	0.80315	5.930000	0.51304	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.864000	0.41028	0.0:0.9324:0.0:0.0676	15.056	0.71584	666	0.61362	3-hydroxyacyl-CoA dehydrogenase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1238.98	35	chr3	185192284	.	C	T	1238.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.524;DP=828;ExcessHet=0.0000;FS=4.796;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=-6.110e-01;SOR=1.201	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1150	20	0	1	0
chr3	185254016	185254016	C	A	exonic	EHHADH	.	stopgain	EHHADH:NM_001966:exon1:c.G7T:p.E3X,	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	.	.	.	.	0.002	N	1.000	A	.	.	.	.	.	.	.	.	.	6.362	37	4.85	2.674	1.306	13.658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002088	0.37271	N	0.303092	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.529	0.56662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.567668	0.96476	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	8.246944	0.97341	37	0.99533333375611421	0.70025	0.80449	0.40084	D	ALL	0.218205	0.34323	N	0.779319782442578	0.84795	8.388935	0.622112593625657	0.76549	6.511524	1.0	0.98316	0.685219	0.55550	0	0.484254	0.07192	0	0.674405	0.61402	0	0.372554	0.06265	0	.	.	4.85	4.85	0.62375	1.316000	0.33226	1.695000	0.28095	0.599000	0.40250	0.863000	0.30666	0.910000	0.28117	0.952000	0.50033	0.0:1.0:0.0:0.0	13.658	0.61824	679	0.60090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1052.98	33	chr3	185254016	.	C	A	1052.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.671;DP=773;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=-2.370e-01;SOR=0.696	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1045	20	0	1	0
chr3	185473330	185473330	G	A	exonic	MAP3K13	.	nonsynonymous SNV	MAP3K13:NM_001242317:exon10:c.G1378A:p.A460T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.994	D	0.723	P	0.000	D	1.000	D	0.695	N	2.52	T	-1.107	T	0.042	T	0.695	3.601	18.33	4.59	1.275	6.585	16.264	0.230	0.0103814971554	.	0.000199681	8.238e-06	0	0	0	0	0	0	6.056e-05	1.29e-05	2	154602	rs564401067	3.42e-06	3.42e-06	5.445e-06	1.375e-06	4.496e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	0	0	6.568e-06	6.563e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.023	0.48642	D	0.232	0.30828	T	0.994	0.66517	D	0.723	0.54990	P	0.000118	0.50451	D	0.132994	1	0.81001	D	2.505	0.72935	M	2.52	0.14160	T	-1.0	0.29933	N	0.336	0.43610	-1.1065	0.03388	T	0.042	0.17869	T	10	0.25680017	0.43089	T	0.010381	0.26850	T	0.230	0.53062	0.456	0.52102	0.439749870471	0.43592	0.5981172159055558	0.59742	0.236333348273	0.26171	0.582455396652	0.50431	T	0.034621	0.23393	T	-0.0780641	0.40029	T	-0.253056	0.49516	T	0.66992449760437	0.39334	D	0.744226	0.36553	T	0.07174946	0.15907	0.13698144	0.32754	0.07174946	0.15907	0.13698144	0.32753	-3.472	0.16195	T	.	.	0.639	0.70483	P	.;.;.;.	.;.;.;.	3.291544	0.45147	22.1	0.99803525434769669	0.88817	0.93791	0.59201	D	AEFGBCI	0.680770	0.64435	D	0.0894741811099624	0.45974	2.845002	0.121520214530351	0.45650	2.824554	0.999999995210059	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.47	4.59	0.56297	6.705000	0.74467	3.039000	0.36073	-0.681000	0.04224	1.000000	0.71638	0.999000	0.35428	0.971000	0.54645	0.0:0.1329:0.867:0.0	16.264	0.82389	739	0.53257	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3119.98	33	chr3	185473330	.	G	A	3119.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.541;DP=890;ExcessHet=0.0000;FS=0.531;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.76;ReadPosRankSum=1.79;SOR=0.624	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1321	20	0	1	0
chr3	185692707	185692707	T	A	exonic	IGF2BP2	.	nonsynonymous SNV	IGF2BP2:NM_001291872:exon4:c.A225T:p.E75D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.949	P	0.696	P	0.000	D	0.999	D	1.52	L	2.56	T	-1.119	T	0.041	T	0.294	3.823	19.42	3.05	0.912	0.153	4.097	0.093	0.0122991695903	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1457354273	2.738e-06	2.736e-06	0	5.504e-06	0.0002	6.4e-07	4.3e-07	9.26e-06	4.57e-06	0	0	0	0	0	0.0002	0	0	3.487e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.58626	D	0.016	0.61642	D	0.949	0.53761	P	0.696	0.54017	P	0.000004	0.62929	D	0.103502	0.99912	0.46125	D	2.395	0.69210	M	2.56	0.13673	T	-1.88	0.44094	N	0.432	0.50958	-1.1189	0.02402	T	0.041	0.17488	T	10	0.27385628	0.44937	T	0.012299	0.30749	T	0.093	0.26882	0.391	0.41443	0.565673053519	0.56230	0.5888513891379533	0.58815	1.20213456134	0.80570	0.457493901253	0.32967	T	0.125203	0.45075	T	-0.332922	0.05894	T	-0.512396	0.21068	T	0.725201368331909	0.41963	D	0.952605	0.83071	D	0.1980711	0.41696	0.20343755	0.44420	0.1980711	0.41696	0.20343755	0.44419	-8.539	0.67781	D	.	.	0.315	0.65519	B	.;.;.;.	.;.;.;.	3.787156	0.54485	23.5	0.99806818674854914	0.89085	0.97436	0.74738	D	AEFDBI	0.593472	0.58878	D	0.158210558240417	0.49202	3.123184	0.159188938697006	0.47631	2.990443	0.986420897110761	0.31061	0.706548	0.73137	0	0.586423	0.34054	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	3.05	0.34272	0.182000	0.16710	3.371000	0.37932	0.665000	0.62972	0.986000	0.36153	1.000000	0.68203	0.998000	0.85391	0.0:0.2434:0.1826:0.574	4.097	0.09468	848	0.35897	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1263.98	37	chr3	185692707	.	T	A	1263.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.303e+00;DP=803;ExcessHet=0.0000;FS=2.499;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=2.73;SOR=0.461	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1275	20	0	1	0
chr3	185824793	185824793	C	A	exonic	IGF2BP2	.	nonsynonymous SNV	IGF2BP2:NM_001007225:exon1:c.G168T:p.E56D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.049	B	0.101	B	0.000	U	1.000	D	0.2	N	2.33	T	-1.042	T	0.023	T	0.283	2.653	14.83	2.03	1.433	2.468	8.347	0.058	0.107458676212	.	.	5.886e-05	0	0	0	0	0	0	0.0002	6.5e-06	1	154602	rs757420056	1.254e-05	1.71e-05	1.537e-05	9.596e-06	1.536e-05	7.42e-06	6.01e-06	7.22e-06	5.56e-06	0	0	0	0	0	0	1.294e-05	3.924e-05	1.536e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	0.14400	T	0.358	0.17804	T	0.049	0.22227	B	0.101	0.30765	B	0.000007	0.62929	U	0.000000	0.99994	0.51968	D	0.125	0.08623	N	2.33	0.16492	T	-0.8	0.24898	N	0.179	0.25377	-1.0419	0.16741	T	0.023	0.09878	T	10	0.116971284	0.22079	T	0.107459	0.78354	D	0.058	0.16647	0.362	0.36711	0.463073977797	0.45932	0.5191828995260093	0.51841	1.27893692603	0.82478	0.841317653656	0.88295	D	0.120	0.44124	T	-0.214772	0.18711	T	-0.546282	0.17685	T	0.521910548210144	0.33435	D	0.943306	0.78847	D	0.2830885	0.51343	0.21207848	0.45663	0.2830885	0.51343	0.21207848	0.45662	-4.306	0.28260	T	.	.	0.557	0.73033	A	.;.;.	.;.;.	3.743725	0.53625	23.4	0.98428270711208687	0.41364	0.97445	0.74795	D	ALL	0.491603	0.52859	N	-0.425730451092234	0.24571	1.327602	-0.310026009586554	0.27773	1.543557	0.999999998665459	0.74766	0.441713	0.08003	0	0.491552	0.07993	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	2.03	2.03	0.25714	0.850000	0.27389	4.374000	0.43159	0.445000	0.21165	0.997000	0.40164	1.000000	0.68203	0.992000	0.67800	0.0:0.7534:0.2466:0.0	8.347	0.31439	678	0.60190	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|IGF2BP2, RNA recognition motif 1;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|IGF2BP2, RNA recognition motif 1;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1080.98	35	chr3	185824793	.	C	A	1080.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.334;DP=823;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.80;MQRankSum=0.00;QD=11.62;ReadPosRankSum=0.070;SOR=0.773	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1065	20	0	1	0
chr3	186150149	186150149	C	T	exonic	DGKG	.	nonsynonymous SNV	DGKG:NM_001080744:exon24:c.G2242A:p.G748R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.98	D	0.000	D	1.000	D	1.63	L	1.08	T	0.305	D	0.635	D	0.898	3.407	17.51	5.17	2.890	3.552	14.714	0.507	0.0756191474403	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.257	0.24767	T	0.999	0.77913	D	0.98	0.74843	D	0.000000	0.84330	D	0.053784	0.999971	0.53665	D	2.055	0.56616	M	-1.5	0.82897	D	-3.88	0.72710	D	0.593	0.61256	0.305	0.87639	D	0.635	0.87238	D	10	0.5520634	0.64311	D	0.075619	0.72333	D	0.507	0.78786	0.249	0.18602	0.933017780686	0.93233	0.7102962554381471	0.70971	0.459601170167	0.45536	0.678146123886	0.64003	T	0.346763	0.71497	T	0.357325	0.87049	D	0.275496	0.86880	D	0.992500960826874	0.83000	D	0.962804	0.86152	D	0.67087865	0.76480	0.65142685	0.79603	0.67087865	0.76481	0.65142685	0.79604	-11.673	0.83222	D	.	.	0.984	0.91905	P	.;.;.	.;.;.	4.983760	0.82574	27.8	0.99841132767212915	0.92143	0.84579	0.43662	D	AEFBI	0.591343	0.58748	D	0.639881009863553	0.75714	6.355309	0.668990091756446	0.80033	7.209598	0.991175241475773	0.32398	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.07	5.17	0.70848	3.314000	0.51653	6.028000	0.52885	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.856:0.144:0.0	14.714	0.68872	925	0.17918	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	260.64	22	chr3	186150149	.	C	T,G	260.64	.	AC=2,1;AF=0.050,0.025;AN=40;BaseQRankSum=-2.888e+00;DP=691;ExcessHet=0.3300;FS=108.433;InbreedingCoeff=-0.0946;MLEAC=2,1;MLEAF=0.050,0.025;MQ=60.00;MQRankSum=0.00;QD=2.17;ReadPosRankSum=0.361;SOR=6.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:26,0,5:31:99:0|1:186150149_C_G:104,182,1238,0,1056,1041:186150149	17	0	2	1
chr3	186150149	186150149	C	G	exonic	DGKG	.	nonsynonymous SNV	DGKG:NM_001080744:exon24:c.G2242C:p.G748R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.98	D	0.000	D	1.000	D	1.63	L	1.08	T	0.305	D	0.635	D	0.898	3.284	17.03	5.17	2.890	3.552	14.714	0.509	0.0722433925333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.257	0.24767	T	0.999	0.77913	D	0.98	0.74843	D	0.000000	0.84330	D	0.053784	0.999972	0.53665	D	2.055	0.56616	M	-1.5	0.82897	D	-3.88	0.72710	D	0.593	0.61256	0.305	0.87639	D	0.635	0.87238	D	10	0.541586	0.63750	D	0.072243	0.71480	D	0.509	0.78910	0.249	0.18602	0.933017780686	0.93233	0.710296282980216	0.70971	0.459601170167	0.45536	0.678146123886	0.64003	T	0.346763	0.71497	T	0.357322	0.87049	D	0.275492	0.86879	D	0.992132842540741	0.82542	D	0.962804	0.86152	D	0.67087865	0.76480	0.65142685	0.79603	0.67087865	0.76481	0.65142685	0.79604	-11.673	0.83222	D	.	.	0.984	0.91905	P	.;.;.	.;.;.	4.940221	0.81522	27.6	0.99863309659222388	0.94184	0.83581	0.42689	D	AEFBI	0.486162	0.52545	N	0.639881009863553	0.75714	6.355309	0.668990091756446	0.80033	7.209598	0.991175241475773	0.32398	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.07	5.17	0.70848	3.314000	0.51653	6.028000	0.52885	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.856:0.144:0.0	14.714	0.68872	925	0.17918	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.075	260.64	22	chr3	186150149	.	C	T,G	260.64	.	AC=2,1;AF=0.050,0.025;AN=40;BaseQRankSum=-2.888e+00;DP=691;ExcessHet=0.3300;FS=108.433;InbreedingCoeff=-0.0946;MLEAC=2,1;MLEAF=0.050,0.025;MQ=60.00;MQRankSum=0.00;QD=2.17;ReadPosRankSum=0.361;SOR=6.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:26,0,5:31:99:0|1:186150149_C_G:104,182,1238,0,1056,1041:186150149	17	0	2	1
chr3	186150150	186150150	C	G	exonic	DGKG	.	nonsynonymous SNV	DGKG:NM_001080744:exon24:c.G2241C:p.M747I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.103	B	0.083	B	0.000	D	0.595	N	1.935	M	1.14	T	-0.851	T	0.122	T	0.548	2.696	14.98	5.19	2.890	3.560	12.944	0.123	0.0085120324625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.156e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.48186	D	0.119	0.37589	T	0.103	0.25884	B	0.034	0.25434	B	0.000053	0.53742	D	0.171825	0.594779	0.30990	N	1.23	0.30720	L	1.07	0.39586	T	-1.95	0.45222	N	0.261	0.35727	-0.8513	0.51878	T	0.122	0.42272	T	10	0.17578414	0.32528	T	0.008512	0.22507	T	0.123	0.34020	0.255	0.19533	0.533276065955	0.52977	0.1464589451172773	0.14567	0.117119508686	0.13201	0.534925818443	0.43728	T	0.116513	0.43590	T	-0.0731769	0.40820	T	-0.34289	0.40017	T	0.780353784561157	0.45072	D	0.923208	0.72041	D	0.3366612	0.56012	0.30383834	0.56414	0.3366612	0.56012	0.30383834	0.56413	-6.908	0.53358	T	.	.	0.370	0.59948	A	.;.;.	.;.;.	3.868216	0.56145	23.7	0.99043586559296637	0.51073	0.88944	0.49124	D	AEFBI	0.615783	0.60259	D	0.181705937295168	0.50321	3.223196	0.343357321105073	0.58108	3.979573	0.991815421124812	0.32618	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.07	5.19	0.71428	3.320000	0.51702	5.982000	0.52185	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9229:0.0:0.0771	12.944	0.57756	925	0.17918	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1071	277.02	22	chr3	186150150	.	C	G	277.02	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-1.574e+00;DP=616;ExcessHet=0.3300;FS=108.433;InbreedingCoeff=-0.1922;MLEAC=4;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=2.31;ReadPosRankSum=0.292;SOR=6.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,5:31:99:0|1:186150149_C_G:104,0,1041:186150149	11	0	3	7
chr3	186150151	186150151	A	G	exonic	DGKG	.	nonsynonymous SNV	DGKG:NM_001080744:exon24:c.T2240C:p.M747T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.945	P	0.652	P	0.000	D	0.650	N	1.59	L	1.05	T	-0.791	T	0.136	T	0.768	2.004	12.66	4.9	2.330	4.437	10.270	0.143	0.0148488252476	.	.	9.186e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs764536140	0	3.426e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.577e-06	6.569e-06	1.286e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.025	0.47320	D	0.128	0.34959	T	0.945	0.53279	P	0.652	0.52532	P	0.000053	0.53742	D	0.171825	0.649523	0.30545	N	1.43	0.35840	L	1.05	0.42122	T	-3.04	0.62863	D	0.333	0.40665	-0.7914	0.55648	T	0.136	0.45068	T	10	0.20008764	0.36043	T	0.014849	0.35231	T	0.143	0.38195	.	.	0.672509336206	0.66973	0.306322739120449	0.30545	0.213405914334	0.23852	0.605171561241	0.53635	T	0.326708	0.69729	T	-0.0883631	0.38348	T	-0.182557	0.56287	T	0.235707968511018	0.22221	T	0.868613	0.57103	D	0.31741124	0.54420	0.39021182	0.63821	0.31741124	0.54420	0.39021182	0.63821	-8.677	0.67737	D	.	.	0.402	0.59694	A	.;.;.	.;.;.	4.251704	0.64538	24.7	0.9490986179220593	0.25771	0.83225	0.42360	D	AEFBI	0.477544	0.52049	N	0.334716964098364	0.57937	3.963371	0.433533912674598	0.63668	4.605017	0.945156828995575	0.27648	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.07	4.9	0.63643	4.150000	0.57871	7.078000	0.57462	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9229:0.0:0.0771:0.0	10.270	0.42656	925	0.17918	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1364	283.21	22	chr3	186150151	.	A	G	283.21	.	AC=3;AF=0.136;AN=22;BaseQRankSum=0.482;DP=674;ExcessHet=0.3300;FS=108.433;InbreedingCoeff=-0.2522;MLEAC=5;MLEAF=0.227;MQ=60.00;MQRankSum=0.00;QD=2.36;ReadPosRankSum=0.400;SOR=6.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,5:31:99:0|1:186150149_C_G:104,0,1041:186150149	8	0	3	10
chr3	186150153	186150153	C	T	exonic	DGKG	.	nonsynonymous SNV	DGKG:NM_001080744:exon24:c.G2238A:p.M746I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.203	B	0.103	B	0.000	D	0.686	D	0.345	N	1.14	T	-0.940	T	0.073	T	0.621	2.956	15.85	5.15	2.890	2.509	14.119	0.147	0.00716069773726	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1316598159	4.106e-06	4.788e-06	2.723e-06	5.503e-06	4.646e-05	1.48e-06	9.7e-07	1.585e-05	9.31e-06	0	0	0	0	0	0	1.799e-06	0	4.646e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.047	0.49942	D	0.129	0.29776	B	0.048	0.30945	B	0.000000	0.84330	D	0.054506	0.685643	0.33277	D	0	0.06538	N	1.12	0.38718	T	-0.49	0.15578	N	0.358	0.43706	-0.9400	0.42616	T	0.073	0.29451	T	10	0.20374998	0.36542	T	0.007161	0.18979	T	0.147	0.38986	0.471	0.54537	0.50231727954	0.49869	0.22313296652622322	0.22228	0.117119508686	0.13201	0.541229844093	0.44619	T	0.101549	0.40842	T	-0.117391	0.33552	T	-0.305771	0.44111	T	0.632440745830536	0.37719	D	0.942106	0.78341	D	0.3923809	0.60201	0.370535	0.62301	0.3923809	0.60201	0.370535	0.62301	-6.384	0.50533	T	.	.	0.623	0.69824	P	.;.;.	.;.;.	3.760810	0.53956	23.4	0.99145279129296304	0.53655	0.78554	0.38773	D	AEFBI	0.426090	0.49059	N	0.0128850235206089	0.42440	2.557199	0.226490686576771	0.51322	3.315765	0.987021974713628	0.31170	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.07	5.15	0.70287	3.276000	0.51350	5.962000	0.51841	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8496:0.1504:0.0	14.119	0.64705	925	0.17918	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	44.98	23	chr3	186150153	.	C	T	44.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.691e+00;DP=713;ExcessHet=0.0000;FS=29.340;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=1.15;SOR=4.163	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:82:.:.:0,82,992	20	0	1	0
chr3	186150154	186150154	A	G	exonic	DGKG	.	nonsynonymous SNV	DGKG:NM_001080744:exon24:c.T2237C:p.M746T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.846	P	0.429	B	0.000	D	0.875	D	0.345	N	0.98	T	-0.918	T	0.083	T	0.854	2.797	15.31	6.07	2.330	6.079	14.151	0.267	0.0113897253496	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.761	0.46778	P	0.247	0.45365	B	0.000000	0.84330	D	0.054506	0.874822	0.35633	D	0	0.06538	N	0.98	0.44065	T	-2.52	0.54702	D	0.59	0.61087	-0.9179	0.45837	T	0.083	0.32700	T	10	0.59664446	0.66679	D	0.01139	0.28966	T	0.267	0.58126	0.467	0.53891	0.725794833255	0.72336	0.5775988565414328	0.57688	0.213405914334	0.23852	0.628588140011	0.56944	T	0.406797	0.76259	T	0.145356	0.68831	D	-0.0289822	0.68437	D	0.751048252518951	0.43343	D	0.929107	0.73907	D	0.7295813	0.79700	0.7470182	0.85047	0.7295813	0.79701	0.7470182	0.85048	-10.436	0.78984	D	.	.	0.953	0.87226	P	.;.;.	.;.;.	3.929375	0.57419	23.9	0.98771675618457933	0.45986	0.94939	0.62857	D	AEFBI	0.760448	0.69847	D	0.332478347119631	0.57823	3.951226	0.476932083560534	0.66463	4.955535	0.999886462381541	0.44867	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.07	6.07	0.98675	5.752000	0.68375	11.256000	0.90911	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.151	0.64919	925	0.17918	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	44.98	31	chr3	186150154	.	A	G	44.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.920e+00;DP=784;ExcessHet=0.0000;FS=29.340;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=1.26;SOR=4.163	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:90:.:.:0,90,1083	20	0	1	0
chr3	186251809	186251809	C	T	exonic	DGKG	.	nonsynonymous SNV	DGKG:NM_001080744:exon18:c.G1636A:p.G546R	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.985	D	0.000	D	1.000	D	2.205	M	0.6	T	-0.358	T	0.334	T	0.913	3.855	19.58	4.74	2.645	7.579	17.022	0.451	0.035765125741	.	.	4.128e-05	0	0	0	0	1.501e-05	0	0.0002	3.23e-05	5	154602	rs79928844	3.352e-05	3.42e-05	3.54e-05	3.163e-05	0.0002	2.566e-05	2.312e-05	0.0002	0.0001	5.975e-05	2.237e-05	0	7.56e-05	0	0.0002	1.799e-05	1.656e-05	0.0002	2.628e-05	2.627e-05	0	5.379e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0.0002	0	0	2.94e-05	0	0	0.01	0.58626	D	0.01	0.65728	D	0.999	0.90584	D	0.952	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.78	0.46185	L	0.6	0.54540	T	-5.79	0.88065	D	0.77	0.76760	-0.3579	0.73325	T	0.334	0.70101	T	10	0.7538474	0.75834	D	0.035765	0.56560	D	0.451	0.75143	0.277	0.23004	0.88496615109	0.88383	0.6973716162950228	0.69678	0.463572617837	0.45859	0.733421444893	0.72006	T	0.371873	0.73616	T	0.086979	0.62847	D	0.146842	0.79983	D	0.861284852027893	0.51168	D	0.962204	0.86689	D	0.49472776	0.66784	0.4131499	0.65496	0.49472776	0.66785	0.4131499	0.65496	-10.06	0.79675	D	.	.	0.608	0.69202	P	.;.;.	.;.;.	5.248700	0.88117	29.5	0.9987160441080144	0.94902	0.99077	0.90888	D	AEFDBI	0.967388	0.98986	D	0.759226325055771	0.83506	8.034875	0.71744485843587	0.83703	8.092018	0.999999999999936	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.74	4.74	0.59717	7.905000	0.86479	7.719000	0.67224	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	17.022	0.86309	573	0.70213	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1681.98	35	chr3	186251809	.	C	T	1681.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.400;DP=840;ExcessHet=0.0000;FS=2.941;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=-1.808e+00;SOR=0.798	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1008	20	0	1	0
chr3	186564152	186564152	T	A	exonic	TBCCD1	.	nonsynonymous SNV	TBCCD1:NM_001134415:exon2:c.A178T:p.I60F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.944	D	0.000	D	1.000	D	2.14	M	-0.84	T	0.150	D	0.540	D	0.656	4.854	27.7	5.75	2.196	5.813	13.998	0.578	0.164145886734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.007	0.92824	D	0.997	0.70673	D	0.944	0.68059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.65	0.77586	M	-0.84	0.74265	T	-2.4	0.70314	N	0.909	0.91047	0.150	0.85059	D	0.540	0.83056	D	10	0.6040953	0.67076	D	0.164146	0.84332	D	0.578	0.82968	0.511	0.60846	0.775400501834	0.77333	0.7466056534558287	0.74606	0.713192987955	0.61806	0.631625235081	0.57376	T	0.283072	0.65583	T	0.150616	0.69326	D	-0.0214273	0.68935	D	0.935144603252411	0.60314	D	0.906409	0.67021	D	0.42050147	0.62125	0.48524758	0.70205	0.42050147	0.62126	0.48524758	0.70205	-3.613	0.18045	T	.	.	0.394	0.74760	A	.;.;.;.	.;.;.;.	4.273020	0.65030	24.8	0.98915821851861052	0.48454	0.99057	0.90596	D	AEFGBI	0.716190	0.66810	D	0.722665942790203	0.81118	7.448024	0.71303107920468	0.83367	8.003413	0.999999999994703	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.75	5.75	0.90390	5.780000	0.68607	6.121000	0.53786	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.0:0.0:1.0	13.998	0.63929	850	0.35610	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1369.98	33	chr3	186564152	.	T	A	1369.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.31;DP=797;ExcessHet=0.0000;FS=7.329;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.12;ReadPosRankSum=-8.330e-01;SOR=1.193	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1202	20	0	1	0
chr3	186651237	186651237	G	T	exonic	FETUB	.	nonsynonymous SNV	FETUB:NM_001308079:exon4:c.G521T:p.G174V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	0.999	D	2.74	M	1.83	T	-0.751	T	0.176	T	0.948	2.822	15.40	4.06	2.554	4.162	12.031	0.430	0.0335160885958	.	.	8.428e-06	0	0	0	0	1.537e-05	0	0	1.29e-05	2	154602	rs770529330	2.054e-05	2.052e-05	2.043e-05	2.064e-05	2.61e-05	1.457e-05	1.264e-05	1.831e-05	1.583e-05	0	0	0	0	0	0	2.61e-05	0	1.16e-05	3.287e-05	3.284e-05	2.571e-05	4.036e-05	4.828e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	4.828e-05	0	0	0	0	0	0	4.411e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000023	0.55875	D	0.000000	0.999207	0.46326	D	2.815	0.81989	M	1.83	0.24841	T	-7.45	0.94899	D	0.812	0.84505	-0.7515	0.57857	T	0.176	0.52006	T	10	0.87403154	0.86684	D	0.033516	0.55037	D	0.430	0.73662	0.674	0.81200	0.436780212511	0.43300	0.7325139466840079	0.73196	0.244918179632	0.27014	0.3945132792	0.24303	T	0.034155	0.23210	T	0.185268	0.72527	D	0.091994	0.76378	D	0.991795361042023	0.82143	D	0.819218	0.47714	T	0.9362835	0.94869	0.8679035	0.92721	0.9362835	0.94869	0.8679035	0.92722	-10.323	0.75823	D	.	.	0.735	0.78339	P	.;.;.;.;.	.;.;.;.;.	3.521905	0.49371	22.8	0.98915913897072261	0.48454	0.80749	0.40308	D	AEFDBI	0.789434	0.71862	D	0.493889103722969	0.66732	4.98833	0.321786936938468	0.56824	3.84622	0.984359270908701	0.30704	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	4.06	4.06	0.46572	3.045000	0.49528	9.792000	0.81650	0.676000	0.76740	0.989000	0.36753	1.000000	0.68203	0.046000	0.14843	0.0:0.0:1.0:0.0	12.031	0.52694	930	0.16408	Cystatin domain|Fetuin-B-type cystatin domain|Cystatin domain|Cystatin domain;Cystatin domain|Fetuin-B-type cystatin domain|Cystatin domain|Cystatin domain;Cystatin domain|Fetuin-B-type cystatin domain|Cystatin domain|Cystatin domain;Cystatin domain|Fetuin-B-type cystatin domain|Cystatin domain|Cystatin domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1779.98	34	chr3	186651237	.	G	T	1779.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.918;DP=857;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.19;ReadPosRankSum=-6.520e-01;SOR=0.721	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1208	20	0	1	0
chr3	186677539	186677539	C	T	exonic	HRG	.	stopgain	HRG:NM_000412:exon7:c.C1234T:p.Q412X,	Thrombophilia due to HRG deficiency, Autosomal dominant;Thrombophilia due to elevated HRG, Autosomal dominant	.	0	1518	4	0	0	4	0.00131579	.	.	85879	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.3	T	.	.	.	.	0.455	N	1.000	D	.	.	.	.	.	.	.	.	.	2.185	13.26	1.37	0.160	-0.099	6.219	.	.	.	0.00259585	0.0026	0	0.0002	0	0	1.641e-05	0.0025	0.0186	0.0019857	307	154602	rs201151195	0.0010	0.0010	0.0006	0.0014	0.0156	0.0009	0.0009	0.0149	0.0146	5.98e-05	4.479e-05	0	2.528e-05	0	0.0002	4.502e-06	0.0011	0.0156	0.0004	0.0004	0.0002	0.0007	0.0133	0.0004	0.0003	0.0107	0.0097	2.407e-05	0	0	0	0.0004	0	0	0	0.0005	0.0133	.	.	.	.	.	.	.	.	.	.	.	.	0.454542	0.12466	N	0.713268	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.529	0.55799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0204881	0.54449	T	0.270279	0.86589	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.960130	0.94190	33	0.9571053085637391	0.27618	0.02230	0.06479	N	AEFDBI	0.140269	0.26212	N	0.107984497227115	0.46836	2.917878	-0.259473230554054	0.29446	1.649812	1.18559266363039E-4	0.05269	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.51	1.37	0.21200	-0.042000	0.12016	-2.577000	0.03589	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.240000	0.23001	0.0:0.5409:0.3507:0.1084	6.219	0.19881	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3242.98	33	chr3	186677539	.	C	T	3242.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.096e+00;DP=2194;ExcessHet=0.0000;FS=3.300;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.38;ReadPosRankSum=-1.167e+00;SOR=0.521	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1293	20	0	1	0
chr3	186717715	186717715	G	A	exonic	KNG1	.	nonsynonymous SNV	KNG1:NM_000893:exon1:c.G173A:p.R58H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.993	D	0.017	N	0.920	D	2.39	M	1.6	T	-0.634	T	0.200	T	0.891	3.081	16.29	5.22	2.614	1.351	14.660	0.297	0.0415473796426	.	.	1.67e-05	0	0	0	0	3.053e-05	0	0	1.29e-05	2	154602	rs781268489	2.465e-05	2.531e-05	2.18e-05	2.753e-05	5.038e-05	1.805e-05	1.602e-05	1.999e-05	1.741e-05	0	0	0	5.038e-05	0	0	2.789e-05	3.314e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.57480	D	0.007	0.74150	D	1.0	0.90584	D	0.977	0.81110	D	0.016962	0.27840	N	0.180388	0.911949	0.36640	D	2.75	0.80375	M	1.6	0.28604	T	-3.31	0.67014	D	0.389	0.58458	-0.6339	0.63405	T	0.200	0.55541	T	10	0.6918235	0.71903	D	0.041547	0.59986	D	0.297	0.61730	0.687	0.82462	0.640709723699	0.63774	0.47091271083832464	0.47010	0.424832099764	0.42900	0.322512745857	0.13801	T	0.44934	0.79088	T	0.0489989	0.58214	T	0.0017353	0.70449	D	0.910855174064636	0.56622	D	0.940006	0.77317	D	0.1344912	0.31245	0.13819128	0.33010	0.1344912	0.31245	0.13819128	0.33009	-8.619	0.66681	D	.	.	0.142	0.31125	B	.;.;.;.;.	.;.;.;.;.	4.297697	0.65597	24.9	0.99913872321187125	0.98238	0.74708	0.36553	D	AEFDBI	.	.	.	0.507654482476868	0.67541	5.095437	0.417056574437163	0.62627	4.481328	0.999999914179463	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.22	5.22	0.72285	1.960000	0.40046	4.808000	0.45020	0.676000	0.76740	0.978000	0.35038	1.000000	0.68203	0.481000	0.28588	0.0:0.0:1.0:0.0	14.660	0.68467	940	0.13648	.;Cystatin domain|Kininogen-type cystatin domain|Cystatin domain|Cystatin domain;.;.;Cystatin domain|Kininogen-type cystatin domain|Cystatin domain|Cystatin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	923.98	72	chr3	186717715	.	G	A	923.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.164e+00;DP=849;ExcessHet=0.0000;FS=1.056;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=0.293;SOR=0.504	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1209	20	0	1	0
chr3	186741585	186741585	A	C	exonic	KNG1	.	nonsynonymous SNV	KNG1:NM_001166451:exon9:c.A1081C:p.K361Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.707	P	0.299	B	0.202	N	1.000	N	1.04	L	2.35	T	-0.953	T	0.053	T	0.044	-0.533	1.576	-7.34	-1.406	-0.302	15.123	0.060	0.00318795038732	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.35537	T	0.138	0.48855	T	0.707	0.42016	P	0.299	0.41006	B	0.201627	0.03324	N	1.585020	1	0.08975	N	1.67	0.42885	L	2.35	0.25678	T	-1.0	0.35991	N	0.056	0.10911	-0.9532	0.40416	T	0.053	0.22462	T	10	0.118202835	0.22342	T	0.003188	0.06996	T	0.060	0.17295	0.314	0.28935	0.268660756437	0.26461	0.3954710042193623	0.39462	0.0737171720781	0.08266	0.213217824697	0.00955	T	0.276541	0.64913	T	-0.355837	0.04371	T	-0.748911	0.03529	T	0.13101558985902	0.15476	T	0.646135	0.26583	T	0.08316409	0.19193	0.07316507	0.15868	0.08316409	0.19193	0.07316507	0.15868	-3.838	0.21373	T	.	.	0.102	0.17869	B	.;.;.;.;.	.;.;.;.;.	0.280167	0.06573	3.060	0.39860921061931748	0.02777	0.08700	0.14591	N	AEBI	0.761657	0.69930	D	-1.18455178337909	0.05233	0.2380878	-1.35766372336836	0.03716	0.1739217	0.999999697123509	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.18	-7.34	0.01280	-0.305000	0.08227	-0.390000	0.09482	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.3161:0.0:0.6839:0.0	15.123	0.72133	934	0.15400	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	759.98	35	chr3	186741585	.	A	C	759.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.218e+00;DP=743;ExcessHet=0.0000;FS=1.311;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.89;ReadPosRankSum=0.440;SOR=1.098	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,104,1120	20	0	1	0
chr3	187199976	187199976	G	T	exonic	RTP1	.	nonsynonymous SNV	RTP1:NM_153708:exon2:c.G698T:p.G233V,	.	.	436	1079	6	1	0	8	0.00369344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.18	B	0.031	B	0.000	D	1.000	D	0.895	L	-0.3	T	-0.797	T	0.195	T	0.538	2.874	15.57	5.74	2.723	3.170	15.418	0.133	.	.	0.00638978	0.0035	0	0	0	0	0	0.0012	0.0363	0.0034734	537	154602	rs370018432	0.0019	0.0020	0.0010	0.0028	0.0316	0.0019	0.0018	0.0306	0.0302	0	2.411e-05	0	2.538e-05	0	0.0016	3.007e-05	0.0020	0.0316	0.0009	0.0009	0.0004	0.0013	0.0268	0.0007	0.0007	0.0230	0.0216	2.405e-05	0	6.533e-05	0	0	0	0	0	0	0.0268	0.055	0.38407	T	0.06	0.45744	T	0.18	0.29046	B	0.031	0.21939	B	0.000198	0.48115	D	0.092841	0.999936	0.51612	D	1.35	0.33515	L	-0.3	0.67874	T	-1.1	0.28497	N	0.278	0.31478	-0.7975	0.55292	T	0.195	0.54869	T	10	0.0046980083	0.00099	T	.	.	.	0.133	0.36157	0.522	0.62518	0.314436011497	0.31061	0.6390223661705394	0.63836	0.407534205699	0.41611	0.523221313953	0.42080	T	0.110935	0.42602	T	-0.338232	0.05511	T	-0.234939	0.51292	T	0.0296429253467967	0.01935	T	0.620638	0.23835	T	0.1320763	0.30765	0.14924471	0.35246	0.1320763	0.30765	0.14924471	0.35246	-4.086	0.25083	T	.	.	0.111	0.21503	B	.	.	3.479220	0.48577	22.6	0.99117563973487954	0.52906	0.75778	0.37120	D	AEFDBI	0.402485	0.47655	N	0.0779929302952618	0.45437	2.800282	0.266265302954435	0.53580	3.526248	0.995349558969859	0.34076	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.74	5.74	0.90070	3.455000	0.52757	6.669000	0.56273	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	15.418	0.74711	904	0.23766	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2010.98	34	chr3	187199976	.	G	T	2010.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.300;DP=928;ExcessHet=0.0000;FS=2.722;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=-1.652e+00;SOR=0.794	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	20	0	1	0
chr3	187251713	187251713	T	C	exonic	MASP1	.	nonsynonymous SNV	MASP1:NM_001031849:exon7:c.A932G:p.K311R	3MC syndrome 1, Autosomal recessive	.	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.08	B	0.045	B	0.001	D	0.995	D	1.095	L	-0.13	T	-0.955	T	0.156	T	0.22	2.168	13.21	4.71	1.013	3.638	12.332	0.051	0.0189355565512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	0.10378	T	0.367	0.16619	T	0.001	0.24543	B	0.003	0.24526	B	0.000681	0.42516	D	0.269431	0.969216	0.42360	D	0.605	0.15622	N	-0.13	0.64818	T	-0.77	0.24676	N	0.196	0.29313	-0.9553	0.40042	T	0.156	0.48772	T	10	0.22169787	0.38901	T	0.018936	0.41162	T	0.051	0.14325	0.408	0.44230	0.692104265246	0.68945	0.2760759288569631	0.27520	0.09617487162	0.10851	0.46939688921	0.34597	T	0.072929	0.34574	T	-0.109428	0.34863	T	-0.394962	0.33971	T	0.592507719993591	0.36105	D	0.835616	0.50622	T	0.22806554	0.45519	0.101064116	0.24184	0.22806554	0.45519	0.101064116	0.24183	-3.946	0.31318	T	0.4187090048607781	0.50781	0.078	0.15115	B	.;.;.;.;.	.;.;.;.;.	2.535471	0.32792	19.15	0.99383363925917478	0.61979	0.93531	0.58471	D	AEFDBIJ	0.807283	0.73136	D	-0.243797094026076	0.31350	1.757067	-0.0516562535302869	0.37418	2.190638	0.999751806722253	0.42595	0.696267	0.57585	0	0.563428	0.19063	0	0.691665	0.62940	0	0.620846	0.47308	0	.	.	5.9	4.71	0.59010	3.625000	0.53979	5.109000	0.47498	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:0.1414:0.8586	12.332	0.54368	947	0.11584	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;.;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1116.98	33	chr3	187251713	.	T	C	1116.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.100e-02;DP=791;ExcessHet=0.0000;FS=5.538;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.99;ReadPosRankSum=-3.810e-01;SOR=0.972	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1056	20	0	1	0
chr3	188609351	188609351	C	T	exonic	LPP	.	nonsynonymous SNV	LPP:NM_001167672:exon5:c.C620T:p.P207L	Leukemia, acute myeloid, Autosomal dominant;Lipoma (3)	.	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.999	D	0.991	D	0.000	D	1.000	D	1.04	L	1.3	T	-0.420	T	0.340	T	0.797	4.988	29.2	5.54	2.779	6.880	18.829	0.277	0.0710325614279	0.0006	0.000199681	0.0005	0.0005	8.64e-05	0	0	0.0007	0	0.0001	0.0004981	77	154602	rs142287153	0.0008	0.0008	0.0009	0.0008	0.0010	0.0008	0.0008	0.0010	0.0009	8.961e-05	0.0001	0	0	3.744e-05	0.0002	0.0010	0.0008	0.0002	0.0006	0.0006	0.0006	0.0006	0.0011	0.0005	0.0004	0.0009	0.0008	0.0003	0	6.542e-05	0	0	0	0.0138	0.0011	0.0005	0	0.002	0.91255	D	0.139	0.69154	T	0.957	0.55692	D	0.612	0.52216	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.31	0.66127	M	1.3	0.41750	T	-6.29	0.94249	D	0.856	0.85238	-0.4203	0.71383	T	0.340	0.70632	T	10	0.1419073	0.26958	T	0.071033	0.71161	D	0.277	0.59375	.	.	0.302481332339	0.29867	0.436927106031154	0.43609	.	.	0.746054470539	0.73864	T	0.257104	0.82637	T	-0.163748	0.26185	T	-0.0535403	0.66780	D	0.188260033726692	0.19741	T	0.960404	0.85096	D	0.35955316	0.57802	0.40526414	0.64931	0.35955316	0.57802	0.40526414	0.64931	-6.403	0.49533	T	.	.	0.413	0.63138	A	.;.;.;.;.	.;.;.;.;.	4.823996	0.78594	26.9	0.99884225847155284	0.95970	0.99098	0.91196	D	AEFBI	0.792352	0.72067	D	0.633185884699484	0.75284	6.278943	0.685153606881795	0.81252	7.483265	0.999999999999982	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	6.931000	0.75678	7.723000	0.67399	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	18.829	0.92098	793	0.45818	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2821.98	33	chr3	188609351	.	C	T	2821.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.314e+00;DP=1337;ExcessHet=0.0000;FS=2.469;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.18;ReadPosRankSum=-1.600e+00;SOR=0.521	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	20	0	1	0
chr3	189808420	189808420	C	T	exonic	TP63	.	nonsynonymous SNV	TP63:NM_001114980:exon2:c.C191T:p.A64V	ADULT syndrome, Autosomal dominant;Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, Autosomal dominant;Hay-Wells syndrome, Autosomal dominant;Limb-mammary syndrome, Autosomal dominant;Orofacial cleft 8, Autosomal dominant;Rapp-Hodgkin syndrome, Autosomal dominant;Split-hand/foot malformation 4, Autosomal dominant	.	1	1515	6	0	0	6	0.00197628	.	.	1381315	TP63-Related_Spectrum_Disorders	MedGen:CN239305	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.958	D	0.699	P	0.000	D	1.000	D	0.895	L	-0.62	T	1.097	D	0.962	D	0.634	4.160	21.5	5.71	2.701	7.818	18.837	0.502	0.341569745041	.	.	1.648e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs767384779	5.472e-06	5.472e-06	5.445e-06	5.5e-06	0.0003	2.35e-06	1.7e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	4.496e-06	0	1.159e-05	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.125	0.52492	T	0.153	0.52389	T	0.877	0.54977	P	0.447	0.54128	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.385	0.34509	L	-6.05	0.99651	D	-0.33	0.17624	N	0.783	0.80964	1.097	0.99529	D	0.962	0.98776	D	9	0.46449924	0.59487	T	0.34157	0.92029	D	0.502	0.78475	0.103	0.01643	0.769586968014	0.76747	0.4757759378880075	0.47496	0.660132741455	0.58851	0.896643042564	0.96058	D	0.368243	0.73317	T	0.232764	0.76980	D	0.160219	0.80821	D	0.367647923862448	0.27707	T	0.927007	0.90930	D	0.1006322	0.23764	0.13800938	0.32971	0.1006322	0.23764	0.13800938	0.32970	-6.5	0.63008	T	0.10412123833100943	0.08107	0.262	0.51094	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.853090	0.79340	27.1	0.99907876811144514	0.97801	0.98240	0.80839	D	AEFDGBI	0.930791	0.91862	D	0.390370722974065	0.60901	4.284204	0.449055174347416	0.64656	4.72585	0.999999999999971	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.563428	0.18855	0	0.564101	0.26826	0	.	.	5.71	5.71	0.89031	7.905000	0.86479	7.696000	0.66036	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.266000	0.23669	0.0:1.0:0.0:0.0	18.837	0.92136	916	0.20744	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2365.98	42	chr3	189808420	.	C	T	2365.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.560e-01;DP=909;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=1.25;SOR=0.666	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1203	20	0	1	0
chr3	189995368	189995368	C	A	exonic	P3H2	.	nonsynonymous SNV	P3H2:NM_001134418:exon2:c.G12T:p.Q4H	Myopia, high, with cataract and vitreoretinal degeneration, Autosomal recessive	YES	1	1507	14	0	0	14	0.00462351	.	.	538358	not_provided|Myopia,_high,_with_cataract_and_vitreoretinal_degeneration	MedGen:C3661900|MONDO:MONDO:0013670,MedGen:C3280346,OMIM:614292	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.994	D	0.885	P	0.000	D	0.917	D	1.24	L	1.58	T	-0.856	T	0.102	T	0.343	3.531	18.02	2.39	0.843	-0.018	8.420	0.145	.	0.0002	0.00359425	0.0012	9.61e-05	0.0006	0	0	0.0006	0.0022	0.0061	0.0011902	184	154602	rs117688924	0.0009	0.0009	0.0007	0.0010	0.0062	0.0008	0.0008	0.0058	0.0056	0.0003	0.0006	0.0029	2.519e-05	0	0.0059	0.0004	0.0015	0.0062	0.0008	0.0008	0.0007	0.0009	0.0093	0.0007	0.0006	0.0072	0.0064	7.224e-05	0	0.0009	0.0020	0.0002	0	0.0068	0.0007	0.0019	0.0093	0.011	0.63226	D	0.029	0.58089	D	0.994	0.66517	D	0.885	0.62825	P	0.000254	0.46924	D	0.197028	0.916514	0.36554	D	1.775	0.45938	L	1.58	0.40218	T	-1.58	0.42001	N	0.415	0.45520	-0.8560	0.51548	T	0.102	0.37618	T	9	0.00795579	0.00181	T	.	.	.	0.145	0.38592	0.358	0.36060	0.324161360171	0.32030	0.532962182838961	0.53221	0.283057473856	0.30755	0.451816797256	0.32192	T	0.111784	0.42754	T	-0.464984	0.00914	T	-0.43822	0.29007	T	0.0554225582295242	0.06428	T	0.929107	0.73907	D	0.083130576	0.19182	0.10408253	0.24988	0.083130576	0.19182	0.10408253	0.24988	-8.052	0.61424	D	0.27357052326696946	0.36761	0.308	0.59274	B	.;.;.;.	.;.;.;.	3.415466	0.47403	22.5	0.99700674420012203	0.80591	0.66466	0.33088	D	ALL	0.169292	0.29612	N	0.213103086037382	0.51834	3.361646	0.18438217101127	0.48991	3.107842	0.999999996362235	0.74766	0.75658	0.98901	0	0.693117	0.66813	0	0.858454	0.99976	0	0.613276	0.41899	0	.	.	5.34	2.39	0.28492	-0.085000	0.11215	0.840000	0.22034	0.599000	0.40250	0.711000	0.28732	0.999000	0.35428	0.998000	0.85391	0.1356:0.7138:0.0:0.1505	8.420	0.31856	810	0.42761	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1293.98	33	chr3	189995368	.	C	A	1293.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.211e+00;DP=824;ExcessHet=0.0000;FS=0.698;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.45;ReadPosRankSum=-1.117e+00;SOR=0.734	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr3	190855735	190855735	C	T	exonic	GMNC	.	nonsynonymous SNV	GMNC:NM_001146686:exon5:c.G565A:p.V189I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	2.045	M	.	.	-0.154	T	0.438	T	0.327	4.613	25.2	5.72	2.716	4.428	18.882	0.140	0.0105144432234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.147e-07	6.84e-07	0	1.449e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000001	0.84330	D	0.000000	0.999935	0.51612	D	2.565	0.75005	M	.	.	.	-0.41	0.14000	N	0.193	0.21188	-0.1542	0.78813	T	0.438	0.77733	T	9	0.35496604	0.52269	T	0.010514	0.27131	T	0.140	0.37593	0.275	0.22687	0.149567049428	0.14543	0.3138135346298689	0.31294	.	.	0.434287399054	0.29796	T	0.02556	0.19086	T	0.00817127	0.52774	T	-0.226039	0.52155	T	0.942868947982788	0.61747	D	0.831417	0.49863	T	0.38119924	0.59403	0.3582548	0.61305	0.38119924	0.59403	0.3582548	0.61304	-4.565	0.31729	T	.	.	0.147	0.32420	B	.	.	3.331981	0.45876	22.2	0.99851449352055133	0.93102	0.96632	0.70119	D	AEFDBI	0.630061	0.61154	D	0.768139982329335	0.84079	8.188984	0.758077983575033	0.86758	8.993407	0.999651602027734	0.41424	0.582742	0.33608	0	0.573888	0.26702	0	0.61531	0.40942	0	0.564101	0.26826	0	.	.	5.72	5.72	0.89380	4.493000	0.60061	4.920000	0.46033	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.882	0.92329	969	0.06854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1820.98	36	chr3	190855735	.	C	T	1820.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.852;DP=835;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.49;ReadPosRankSum=1.21;SOR=0.719	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr3	191380871	191380871	A	G	exonic	CCDC50	.	nonsynonymous SNV	CCDC50:NM_174908:exon8:c.A653G:p.K218R	.	.	1	1468	50	3	0	56	0.0187166	.	.	173908	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.75	T	0.705	P	0.439	B	0.000	D	0.654	N	1.7	L	1.54	T	-1.010	T	0.096	T	0.429	3.138	16.49	5.7	2.168	3.980	12.366	0.092	.	0.0035	0.00499201	0.0065	0.0011	0.0016	0	0.0002	0.0050	0.0101	0.0252	0.0061901	957	154602	rs114502673	0.0065	0.0065	0.0057	0.0073	0.0258	0.0064	0.0063	0.0249	0.0245	0.0007	0.0016	0.0058	0.0001	0.0004	0.0106	0.0059	0.0065	0.0258	0.0038	0.0039	0.0040	0.0037	0.0230	0.0036	0.0035	0.0195	0.0182	0.0009	0.0066	0.0018	0.0049	0	9.413e-05	0.0068	0.0056	0.0038	0.0230	.	.	.	.	.	.	0.705	0.41986	P	0.439	0.45685	B	0.000050	0.53742	D	0.132805	0.653512	0.30512	N	2.225	0.63025	M	.	.	.	.	.	.	.	.	-1.0102	0.26854	T	0.096	0.36159	T	10	0.006295413	0.00142	T	.	.	.	0.092	0.26621	.	.	0.394837016283	0.39092	0.018683176227404726	0.01822	0.45893775672	0.45492	0.605645656586	0.53701	T	0.005	0.04113	T	-0.427499	0.01535	T	-0.368595	0.37053	T	0.0189041882867734	0.00600	T	0.80202	0.45053	T	0.11414416	0.26949	0.0980237	0.23354	0.11414416	0.26949	0.0980237	0.23354	-7.596	0.58283	D	0.12031312152752395	0.11301	0.088	0.11654	B	.;.	.;.	3.501968	0.48999	22.7	0.99859256809670549	0.93820	0.91605	0.53878	D	AEFBI	0.620857	0.60576	D	0.0902555239688302	0.46009	2.84803	0.217124440906525	0.50797	3.268055	0.999999986345712	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.7	5.7	0.88690	3.090000	0.49888	5.306000	0.48250	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	12.366	0.54558	971	0.05719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	372.98	33	chr3	191380871	.	A	G	372.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.25;DP=756;ExcessHet=0.0000;FS=2.733;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.46;ReadPosRankSum=-1.467e+00;SOR=1.150	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1068	20	0	1	0
chr3	193454207	193454207	T	C	exonic	ATP13A4	.	nonsynonymous SNV	ATP13A4:NM_032279:exon17:c.A1921G:p.T641A,	.	.	.	.	.	.	.	.	.	.	.	708739	not_provided|ATP13A4-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.68	T	0.0	B	0.003	B	0.081	N	1.000	D	0.445	N	-0.37	T	-1.079	T	0.087	T	0.157	0.582	7.140	2.44	0.184	-0.520	6.083	0.044	.	0.0041	0.00219649	0.0010	0.0117	0.0002	0	0	0	0	6.086e-05	0.0009573	148	154602	rs78695718	0.0003	0.0003	0.0004	0.0003	0.0130	0.0003	0.0003	0.0120	0.0116	0.0130	0.0003	0	0	0	0.0010	4.516e-06	0.0006	8.123e-05	0.0033	0.0033	0.0034	0.0032	0.0116	0.0031	0.0030	0.0108	0.0105	0.0116	0	0.0007	0	0	0	0	0	0.0033	0	0.695	0.04602	T	0.734	0.05292	T	0.0	0.02946	B	0.003	0.08700	B	0.081123	0.20883	N	0.467714	0.98232	0.24973	N	0.275	0.09989	N	-0.37	0.68892	T	-0.99	0.26200	N	0.133	0.12913	-1.0789	0.07563	T	0.087	0.33774	T	10	0.0051034093	0.00110	T	.	.	.	0.044	0.11924	.	.	0.322786055943	0.31880	0.17129873772219323	0.17049	0.112406469208	0.12689	0.283146083355	0.07935	T	0.305277	0.67754	T	-0.505589	0.00532	T	-0.488632	0.23535	T	0.0057492412558202	0.00063	T	0.139686	0.01117	T	0.08801399	0.20517	0.06347887	0.12582	0.08801399	0.20517	0.06347887	0.12581	-4.568	0.31767	T	.	.	0.053	0.00286	B	.;.	.;.	0.300740	0.06766	3.280	0.73087979775685907	0.10202	0.18971	0.20476	N	AEFI	0.122806	0.23811	N	-0.757587358547143	0.14427	0.7186126	-0.610424866891958	0.19224	1.030536	3.75384104283E-5	0.03775	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	6.17	2.44	0.28875	-0.814000	0.04593	0.082000	0.14403	0.665000	0.62972	0.000000	0.06391	0.014000	0.20376	0.970000	0.54328	0.0:0.1456:0.1378:0.7166	6.083	0.19175	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	804.98	35	chr3	193454207	.	T	C	804.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.809e+00;DP=854;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.75;ReadPosRankSum=1.06;SOR=0.619	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1217	20	0	1	0
chr3	193614733	193614733	C	A	exonic	OPA1	.	nonsynonymous SNV	OPA1:NM_015560:exon2:c.C43A:p.Q15K	Behr syndrome, Autosomal recessive;Optic atrophy 1, Autosomal dominant;Optic atrophy plus syndrome, Autosomal dominant	.	4	1458	55	5	0	65	0.0218048	.	.	101623	Optic_atrophy_with_or_without_deafness,_ophthalmoplegia,_myopathy,_ataxia,_and_neuropathy|Autosomal_dominant_optic_atrophy_classic_form|not_specified|not_provided|Mitochondrial_DNA_depletion_syndrome_14_(cardioencephalomyopathic_type)|Abortive_cerebellar_ataxia	MONDO:MONDO:0007429,MedGen:C3276549,OMIM:125250|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500,Orphanet:98673|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014820,MedGen:C4225163,OMIM:616896|MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000,Orphanet:1239	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.27	T	0.0	B	0.0	B	0.012	N	0.894	N	0.755	N	-2.09	D	-0.680	T	0.227	T	0.392	2.273	13.56	5.08	2.835	3.160	14.894	0.220	.	0.0032	0.00758786	0.0068	0.0008	0.0033	0.0177	0.0015	0.0034	0.0143	0.0223	0.0060413	934	154602	rs75414918	0.0043	0.0043	0.0035	0.0051	0.0238	0.0042	0.0041	0.0230	0.0226	0.0008	0.0023	0.0067	0.0236	0.0017	0.0186	0.0022	0.0050	0.0238	0.0031	0.0031	0.0027	0.0034	0.0168	0.0028	0.0027	0.0139	0.0128	0.0006	0	0.0028	0.0075	0.0162	0.0015	0.0136	0.0025	0.0066	0.0168	0.304	0.16738	T	0.351	0.25827	T	0.0	0.02946	B	0.0	0.01387	B	0.011971	0.29336	N	0.406211	0.893937	0.27830	N	0.695	0.17993	N	-2.09	0.86077	D	-0.17	0.14000	N	0.493	0.53972	-0.6798	0.61382	T	0.227	0.59183	T	10	0.0065462887	0.00148	T	.	.	.	0.220	0.51569	.	.	0.738843076146	0.73650	0.40007050218803836	0.39922	0.124045915619	0.13968	0.514264643192	0.40819	T	0.006467	0.47579	T	-0.296459	0.08997	T	-0.180366	0.56490	T	0.00525513114829355	0.00057	T	0.909409	0.69109	D	0.33606395	0.55964	0.09377326	0.22166	0.2908037	0.52067	0.085395366	0.19714	-4.335	0.29312	T	.	.	0.078	0.07036	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.023176	0.40473	21.2	0.96827769634480831	0.31252	0.85399	0.44528	D	AEFDGBI	0.188928	0.31620	N	-0.0500170846285696	0.39602	2.33801	0.171200702642791	0.48277	3.045737	0.999996167017284	0.74766	0.741868	0.97996	0	0.724815	0.89359	0	0.743671	0.96076	0	0.662026	0.63922	0	.	.	5.98	5.08	0.68373	3.421000	0.52501	4.905000	0.45897	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2512:0.7488:0.0:0.0	14.894	0.70271	937	0.14592	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1522.98	36	chr3	193614733	.	C	A	1522.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=852;ExcessHet=0.0000;FS=0.701;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=-1.466e+00;SOR=0.780	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1426	20	0	1	0
chr3	193658970	193658970	G	T	exonic	OPA1	.	nonsynonymous SNV	OPA1:NM_130831:exon21:c.G2142T:p.E714D	Behr syndrome, Autosomal recessive;Optic atrophy 1, Autosomal dominant;Optic atrophy plus syndrome, Autosomal dominant	.	1	1520	1	0	0	1	0.000328839	.	.	3152463	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.35	T	0.002	B	0.003	B	0.000	D	1.000	D	-0.11	N	-3.16	D	-0.559	T	0.513	D	0.212	1.650	11.48	0.165	0.068	0.411	6.431	0.281	0.0655121152827	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1274466249	2.053e-06	2.736e-06	0	4.127e-06	1.159e-05	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	8.999e-07	1.657e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.418	0.11334	T	0.592	0.08419	T	0.0	0.07471	B	0.001	0.08700	B	0.000000	0.84330	D	0.045056	0.999502	0.47320	D	0.665	0.16292	N	-3.17	0.94940	D	-0.88	0.25118	N	0.296	0.33469	-0.5592	0.66434	T	0.513	0.81710	D	10	0.14803845	0.28040	T	0.065512	0.69601	D	0.281	0.59861	0.316	0.29258	0.621472958635	0.61840	0.5443422902987497	0.54360	0.505707526682	0.48801	0.662784218788	0.61807	T	0.013371	0.55373	T	-0.0516918	0.44191	T	-0.215174	0.53200	T	0.0714368908214978	0.08851	T	0.920308	0.71541	D	0.08368083	0.19335	0.09391985	0.22208	0.08368083	0.19335	0.09391985	0.22208	-6.033	0.46555	T	0.1109835030460008	0.09439	0.100	0.21163	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.155569	0.27462	17.47	0.97253942970799945	0.33057	0.83662	0.42764	D	AEFDBI	0.120845	0.23522	N	-0.588560608628122	0.19290	1.008471	-0.406303768339849	0.24811	1.360827	0.997191424366456	0.35363	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.89	0.165	0.14282	0.439000	0.21293	1.744000	0.28423	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.3731:0.0:0.5087:0.1181	6.431	0.20999	953	0.10115	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1744.98	42	chr3	193658970	.	G	T	1744.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.284e+00;DP=860;ExcessHet=0.0000;FS=2.187;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=0.280;SOR=0.501	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1314	20	0	1	0
chr3	194341081	194341081	C	A	exonic	CPN2	.	nonsynonymous SNV	CPN2:NM_001080513:exon2:c.G1622T:p.R541L	.	.	422	1080	20	0	0	20	0.00917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.001	B	0.001	B	0.299	N	1.000	N	0.205	N	0.56	T	-1.052	T	0.062	T	0.087	1.162	9.731	-11.4	-3.601	-4.824	5.067	0.063	0.00681108974781	0.0015	0.00179712	0.0019	0.0005	0.0025	0	0.0002	0.0019	0.0054	0.0046	0.0015459	239	154602	rs150510546	0.0013	0.0013	0.0011	0.0014	0.0121	0.0012	0.0012	0.0097	0.0088	0.0005	0.0018	0.0004	0	0.0001	0.0121	0.0011	0.0018	0.0040	0.0011	0.0010	0.0010	0.0011	0.0050	0.0009	0.0009	0.0034	0.0029	0.0001	0	0.0015	0.0006	0	0	0.0068	0.0014	0.0033	0.0050	0.276	0.15717	T	0.254	0.23433	T	0.001	0.07471	B	0.001	0.04355	B	0.298552	0.03939	N	1.739800	1	0.08975	N	0.345	0.11182	N	0.56	0.54540	T	0.96	0.01488	N	0.092	0.07125	-1.0525	0.13709	T	0.062	0.25780	T	10	0.0036023557	0.00065	T	0.006811	0.18010	T	0.063	0.18251	.	.	0.388653054685	0.38476	0.3873093252239935	0.38645	0.225813559586	0.25129	0.217184200883	0.01154	T	0.133804	0.46469	T	-0.630927	0.00094	T	-0.681481	0.06894	T	0.0484604067682386	0.05227	T	0.39926	0.10144	T	0.040326152	0.05735	0.06738721	0.13933	0.040326152	0.05735	0.06738721	0.13933	-3.187	0.12322	T	.	.	0.081	0.09917	B	.;.	.;.	-1.873188	0.00134	0.002	0.71189580806832742	0.09545	0.01507	0.04986	N	AEFBI	0.185067	0.31239	N	-2.19234984836467	0.00080	0.003417943	-2.30214911587398	0.00066	0.002882801	0.999999999999937	0.74766	0.437478	0.07067	0	0.59043	0.45803	0	0.606814	0.37721	0	0.542086	0.14980	0	.	.	5.7	-11.4	0.00070	-5.139000	0.00174	-11.910000	0.00565	-1.399000	0.01142	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5269:0.0872:0.0625:0.3235	5.067	0.13925	889	0.27310	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	968.98	35	chr3	194341081	.	C	A	968.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.919;DP=763;ExcessHet=0.0000;FS=2.035;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=-9.730e-01;SOR=0.990	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1113	20	0	1	0
chr3	194359659	194359659	T	C	exonic	LRRC15	.	nonsynonymous SNV	LRRC15:NM_130830:exon2:c.A1385G:p.Q462R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	0.974	D	0.647	P	0.111	N	0.809	N	0.825	L	1.88	T	-1.115	T	0.049	T	0.482	0.807	8.244	5.24	2.119	1.968	7.451	0.125	0.00793838058317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.666	0.04616	T	0.298	0.20877	T	0.073	0.57829	B	0.018	0.52336	B	0.111020	0.19418	N	0.432525	0.808681	0.29027	N	1.275	0.32135	L	1.88	0.23884	T	-1.08	0.28084	N	0.06	0.04790	-1.1151	0.02666	T	0.049	0.20711	T	10	0.089279175	0.15451	T	0.007938	0.21059	T	0.125	0.34456	0.482	0.56302	0.583271498735	0.57999	0.4353675914623222	0.43453	.	.	0.39610940218	0.24527	T	0.084218	0.37230	T	-0.146738	0.28825	T	-0.448556	0.27857	T	0.0803407551278317	0.10031	T	0.678032	0.28700	T	0.076330125	0.17254	0.08296396	0.18977	0.076330125	0.17254	0.08296396	0.18976	-4.467	0.31408	T	.	.	0.131	0.33596	B	.;.	.;.	1.641987	0.20957	14.99	0.97418837887845855	0.33865	0.94397	0.61035	D	AEFDGBI	0.358129	0.44891	N	-0.0981434917095693	0.37473	2.180651	0.0315914193963158	0.41189	2.470542	0.99542265638408	0.34119	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.24	5.24	0.72863	1.138000	0.31103	6.156000	0.54269	0.665000	0.62972	0.233000	0.24675	1.000000	0.68203	0.652000	0.32748	0.1398:0.0:0.1458:0.7143	7.451	0.26411	845	0.36510	Cysteine-rich flanking region, C-terminal;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	87.98	33	chr3	194359659	.	T	C	87.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.874e+00;DP=1665;ExcessHet=0.0000;FS=206.977;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.33;ReadPosRankSum=1.87;SOR=8.189	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1066	20	0	1	0
chr3	194447922	194447922	A	G	exonic	ATP13A3	.	nonsynonymous SNV	ATP13A3:NM_001374836:exon12:c.T1157C:p.F386S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.515	H	-2.78	D	1.024	D	0.892	D	0.983	4.853	27.7	5.69	2.147	8.660	15.943	0.887	0.316784851064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.985	0.96662	H	-2.78	0.90962	D	-7.9	0.96191	D	0.985	0.99481	1.024	0.97602	D	0.892	0.96418	D	10	0.851599	0.84340	D	0.316785	0.91353	D	0.887	0.96725	0.484	0.56621	0.964892286882	0.96451	0.9622963260560118	0.96215	1.56154988129	0.88046	0.783826172352	0.79505	T	0.768064	0.93770	D	0.511706	0.94636	D	0.497254	0.94557	D	0.999905228614807	0.99629	D	0.89651	0.80969	D	0.9411674	0.95366	0.9455981	0.98128	0.9411674	0.95366	0.9455981	0.98128	-12.395	0.86722	D	.	.	0.994	0.95290	P	.;.;.;.;.	.;.;.;.;.	5.300961	0.88993	29.8	0.99889264843255465	0.96359	0.83454	0.42570	D	AEFBCI	0.897498	0.83974	D	0.976994022004308	0.94993	13.21475	0.909529092398064	0.95975	14.16587	0.999999998623458	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.69	5.69	0.88346	8.647000	0.90819	11.237000	0.90306	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	15.943	0.79559	940	0.13648	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	544.98	37	chr3	194447922	.	A	G	544.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.297;DP=735;ExcessHet=0.0000;FS=1.093;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=0.310;SOR=0.639	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1316	20	0	1	0
chr3	194459887	194459887	T	C	exonic	ATP13A3	.	nonsynonymous SNV	ATP13A3:NM_024524:exon4:c.A310G:p.N104D	.	.	430	1090	1	1	0	3	0.00137426	.	.	1546322	not_provided|ATP13A3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.61	T	0.047	B	0.158	B	0.244	N	1.000	N	0.69	N	1.98	T	-0.947	T	0.030	T	0.019	-1.208	0.068	-1.64	-0.182	0.894	7.301	0.047	0.00882089260961	0.0013	0.000399361	0.0020	0.0002	0.0008	0	0.0068	0.0027	0.0044	0.0005	0.0019211	297	154602	rs201046053	0.0018	0.0018	0.0018	0.0017	0.0061	0.0017	0.0017	0.0045	0.0039	0.0003	0.0006	0.0067	2.526e-05	0.0059	0.0061	0.0017	0.0015	0.0008	0.0016	0.0016	0.0013	0.0019	0.0018	0.0014	0.0014	0.0015	0.0015	0.0002	0	0.0007	0.0075	0	0.0067	0	0.0018	0.0019	0.0006	0.649	0.04864	T	0.627	0.07267	T	0.047	0.21998	B	0.158	0.34617	B	0.243855	0.15653	N	0.663319	0.999999	0.08975	N	1.04	0.26193	L	1.98	0.21865	T	-0.19	0.09965	N	0.114	0.12198	-0.9472	0.41448	T	0.030	0.12717	T	10	0.004317045	0.00087	T	0.008821	0.23269	T	0.047	0.12962	.	.	0.427830603989	0.42401	0.1523551650041218	0.15157	0.408458707236	0.41687	0.309772014618	0.11873	T	0.017298	0.14140	T	-0.685608	0.00044	T	-0.763462	0.02990	T	0.00426944132734161	0.00046	T	0.521748	0.17009	T	0.03535607	0.04144	0.048189342	0.07105	0.03535607	0.04144	0.048189342	0.07105	-3.631	0.18306	T	.	.	0.058	0.00754	B	.;.;.;.	.;.;.;.	0.617033	0.09856	6.617	0.33803126674027884	0.02033	0.31916	0.24457	N	AEFGBI	0.052004	0.09241	N	-1.35627723303869	0.03061	0.1361214	-1.33762126201401	0.03954	0.1855094	0.956074506005864	0.28226	0.706298	0.61202	0	0.724815	0.89359	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.38	-1.64	0.07874	0.914000	0.28246	0.644000	0.20348	-1.283000	0.01266	0.603000	0.27772	0.988000	0.31051	0.255000	0.23391	0.0:0.3705:0.3624:0.2671	7.301	0.25591	945	0.12563	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1405.98	34	chr3	194459887	.	T	C	1405.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.950e-01;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=1.07;SOR=0.741	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr3	194652863	194652863	G	A	exonic	LSG1	.	nonsynonymous SNV	LSG1:NM_018385:exon8:c.C1039T:p.R347W,	.	.	418	1087	16	1	0	18	0.00821168	.	.	708746	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.288	B	0.013	B	0.191	N	1.000	N	0	N	2.47	T	-1.024	T	0.023	T	0.321	2.654	14.84	5.05	2.818	2.910	14.296	0.063	0.00562252498956	0.0008	0.00179712	0.0018	0	0.0004	0.0053	0.0003	0.0008	0.0022	0.0068	0.0016041	248	154602	rs114485048	0.0013	0.0013	0.0011	0.0016	0.0125	0.0013	0.0012	0.0116	0.0112	0.0003	0.0006	0.0007	0.0125	0.0001	0.0017	0.0007	0.0012	0.0064	0.0009	0.0009	0.0008	0.0009	0.0050	0.0007	0.0007	0.0034	0.0029	0.0001	0	0.0008	0	0.0044	0.0004	0	0.0009	0.0014	0.0050	0.018	0.50676	D	0.035	0.52389	D	0.288	0.32258	B	0.013	0.16460	B	0.191137	0.16843	N	0.629990	1	0.08975	N	0	0.06538	N	2.47	0.14783	T	-1.91	0.44471	N	0.145	0.14622	-1.0241	0.22377	T	0.023	0.09832	T	10	0.004511744	0.00093	T	0.005623	0.14530	T	0.063	0.18251	.	.	0.199424873507	0.19547	0.2702288715631526	0.26935	0.111146524575	0.12538	0.187256425619	0.00180	T	0.011915	0.10560	T	-0.512927	0.00483	T	-0.506114	0.21714	T	0.021339974902978	0.00837	T	0.735426	0.35200	T	0.09848784	0.23231	0.11134898	0.26859	0.09848784	0.23231	0.11134898	0.26858	-6.078	0.46927	T	.	.	0.075	0.05360	B	.	.	2.509451	0.32405	19.03	0.99308237146486011	0.58906	0.71099	0.34868	D	AEFDGBI	0.245212	0.36619	N	-0.45538030160156	0.23558	1.265935	-0.379516748495026	0.25608	1.409328	0.953167897630978	0.28058	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.93	5.05	0.67566	2.970000	0.48932	2.038000	0.30286	0.618000	0.50648	0.124000	0.23245	0.016000	0.20520	0.019000	0.11356	0.0733:0.0:0.9267:0.0	14.296	0.65869	921	0.19240	Circularly permuted (CP)-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2935.98	36	chr3	194652863	.	G	A	2935.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=957;ExcessHet=0.0000;FS=3.763;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=0.364;SOR=0.481	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1238	20	0	1	0
chr3	194653109	194653109	T	G	exonic	LSG1	.	nonsynonymous SNV	LSG1:NM_018385:exon8:c.A793C:p.T265P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.0	B	0.001	B	0.080	N	1.000	N	1.04	L	0.93	T	-1.075	T	0.071	T	0.098	1.039	9.244	-0.653	-0.102	-0.087	0.613	0.051	0.00367043453226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.27	0.22359	T	0.0	0.02946	B	0.001	0.04355	B	0.079780	0.02341	N	1.727610	1	0.08975	N	2.075	0.57047	M	0.93	0.44065	T	-0.16	0.09460	N	0.074	0.04790	-1.0754	0.08266	T	0.071	0.28839	T	10	0.04971406	0.04600	T	0.00367	0.08464	T	0.051	0.14325	0.204	0.11936	0.130388298395	0.12655	0.21414746293615586	0.21330	0.135197303917	0.15242	0.285057544708	0.08207	T	0.005151	0.04592	T	-0.302829	0.08394	T	-0.67277	0.07432	T	0.064114409503839	0.07799	T	0.383062	0.09347	T	0.041734353	0.06202	0.048587486	0.07247	0.041734353	0.06201	0.048587486	0.07247	-3.653	0.18627	T	.	.	0.071	0.03887	B	.	.	0.446170	0.08165	4.896	0.72923412262145371	0.10144	0.07343	0.13364	N	AEFBI	0.096516	0.19482	N	-1.03745515036295	0.07836	0.3653749	-1.09759992729531	0.07747	0.3780736	0.0025014401785571	0.09486	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.34	-0.653	0.10872	0.011000	0.13162	-0.428000	0.09240	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.171000	0.21011	0.1686:0.192:0.1752:0.4643	0.613	0.00715	922	0.19044	Circularly permuted (CP)-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1143.98	43	chr3	194653109	.	T	G	1143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=915;ExcessHet=0.0000;FS=1.888;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=-8.120e-01;SOR=1.012	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,99,1485	20	0	1	0
chr3	195226828	195226828	G	A	exonic	XXYLT1	.	nonsynonymous SNV	XXYLT1:NM_001308069:exon2:c.C95T:p.T32M	.	.	.	.	.	.	.	.	.	.	.	2361911	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.989	D	0.000	D	1.000	D	0.895	L	1.94	T	-1.071	T	0.092	T	0.814	3.224	16.80	4.61	2.491	7.746	17.325	0.275	0.0730530561351	8e-05	0.000199681	0.0003	0	0.0003	0.0001	0	9.069e-05	0	0.0012	0.0002005	31	154602	rs201345395	0.0002	0.0002	0.0002	0.0003	0.0013	0.0002	0.0002	0.0011	0.0010	2.987e-05	0.0001	0	0	0	0	0.0002	0.0001	0.0013	0.0002	0.0002	0.0002	0.0001	0.0008	0.0001	8.735e-05	0.0003	0.0002	7.245e-05	0	6.556e-05	0	0.0002	0	0	0.0002	0	0.0008	0.003	0.68238	D	0.009	0.66756	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.049690	1	0.81001	D	2.08	0.57402	M	1.94	0.22678	T	-2.8	0.59226	D	0.772	0.79022	-1.0707	0.09260	T	0.092	0.35119	T	10	0.2741147	0.44964	T	0.073053	0.71690	D	0.275	0.59130	.	.	0.166414681773	0.16258	0.6545145458341753	0.65387	1.4176628768	0.85560	0.826894760132	0.86086	D	0.024403	0.24656	T	-0.185391	0.22936	T	-0.0796105	0.64933	T	0.269157439470291	0.23711	T	0.927207	0.73169	D	0.3243168	0.55002	0.3051823	0.56546	0.3243168	0.55002	0.3051823	0.56545	-9.839	0.72942	D	.	.	0.219	0.44923	B	.;.	.;.	4.745459	0.76578	26.5	0.99871465090002087	0.94902	0.94402	0.61051	D	AEFGBCI	0.850009	0.76683	D	0.460528063903487	0.64804	4.743219	0.420232810467616	0.62826	4.504836	0.999999999999996	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.61	4.61	0.56724	7.843000	0.85133	8.451000	0.77220	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.099000	0.18236	0.0:0.0:1.0:0.0	17.325	0.87131	912	0.21483	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1390.98	35	chr3	195226828	.	G	A	1390.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.500e-01;DP=804;ExcessHet=0.0000;FS=0.731;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=-1.144e+00;SOR=0.810	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1471	20	0	1	0
chr3	195579418	195579418	A	G	exonic	APOD	.	nonsynonymous SNV	APOD:NM_001647:exon2:c.T44C:p.F15S,	.	.	407	1092	23	0	0	23	0.0104214	.	.	697996	not_provided|APOD-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.03	D	0.002	B	0.002	B	0.392	N	1.000	N	1.15	L	2.03	T	-1.029	T	0.027	T	0.633	1.845	12.13	1.61	0.434	1.338	7.376	0.191	0.0106765433329	0.0046	0.00139776	0.0042	0.0008	0.0042	0	0.0083	0.0058	0.0056	0.0005	0.0040556	627	154602	rs5952	0.0047	0.0047	0.0048	0.0046	0.0071	0.0046	0.0045	0.0054	0.0051	0.0007	0.0046	0.0007	0	0.0071	0.0071	0.0052	0.0044	0.0007	0.0042	0.0042	0.0040	0.0044	0.0063	0.0039	0.0038	0.0053	0.0051	0.0011	0.0044	0.0063	0.0020	0	0.0068	0.0102	0.0058	0.0066	0.0012	0.004	0.72154	D	0.248	0.23845	T	0.002	0.09854	B	0.002	0.06944	B	0.391946	0.13243	N	0.701798	1	0.08975	N	1.5	0.37844	L	2.03	0.20959	T	-1.66	0.44852	N	0.312	0.35194	-1.0289	0.20811	T	0.027	0.11707	T	10	0.0046077073	0.00096	T	0.010677	0.27493	T	0.191	0.46948	.	.	0.332386209738	0.32853	0.39952335144674217	0.39867	0.231353726995	0.25683	0.335872769356	0.15819	T	0.143503	0.47964	T	-0.392143	0.02606	T	-0.333867	0.41038	T	0.0362776724728635	0.03028	T	0.433257	0.15733	T	0.14031689	0.32379	0.15112346	0.35612	0.14031689	0.32378	0.15112346	0.35611	-4.849	0.35157	T	.	.	0.103	0.26978	B	.;.;.	.;.;.	1.724349	0.21947	15.42	0.96601951292706412	0.30409	0.04721	0.10415	N	AEFDBI	0.089882	0.18217	N	-0.778734682236333	0.13865	0.6862076	-0.791428063803516	0.14705	0.7697434	0.111814176163366	0.16668	0.623552	0.39893	0	0.610034	0.51514	0	0.547309	0.15389	0	0.579976	0.35079	0	.	.	5.68	1.61	0.22752	2.306000	0.43333	5.925000	0.51226	0.756000	0.94297	0.488000	0.26863	1.000000	0.68203	0.014000	0.10232	0.7035:0.0:0.2965:0.0	7.376	0.26004	835	0.38313	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	760.98	36	chr3	195579418	.	A	G	760.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.260e-01;DP=760;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.28;ReadPosRankSum=1.55;SOR=0.710	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1174	20	0	1	0
chr3	195724763	195724763	G	A	exonic	MUC20	.	nonsynonymous SNV	MUC20:NM_001282506:exon2:c.G160A:p.A54T	.	.	624	882	15	1	0	17	0.0095452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99	T	0.006	B	0.002	B	0.349	N	1.000	N	0.205	N	3.14	T	-0.973	T	0.012	T	0.044	0.193	5.038	-8.05	-2.462	-1.639	0.815	0.008	.	.	.	0.0233	0	0	0	.	0.0357	0	0.05	0.0003074	8	26028	rs775202820	0.0114	0.0098	0.0109	0.0118	0.0198	0.0111	0.0110	0.0188	0.0184	0.0015	0.0027	0.0193	9.239e-05	0.0096	0.0160	0.0122	0.0102	0.0198	0.0047	0.0068	0.0050	0.0044	0.0071	0.0043	0.0042	0.0064	0.0061	0.0013	0.0018	0.0029	0.0145	0	0.0054	0	0.0071	0.0042	0.0040	0.656	0.08237	T	1.0	0.01155	T	0.006	0.13644	B	0.002	0.06944	B	0.348811	0.04232	N	1.519900	1	0.19072	N	0.55	0.14455	N	2.97	0.13673	T	0.12	0.07008	N	0.017	0.01347	-0.9730	0.36562	T	0.012	0.04510	T	10	0.0033717155	0.00059	T	.	.	.	0.008	0.00669	.	.	0.0138822411134	0.00435	0.06336625831601786	0.06275	.	.	0.208039224148	0.00730	T	0.001548	0.07080	T	-0.42744	0.01536	T	-0.851764	0.00938	T	2.32968649078946e-05	0.00000	T	0.419058	0.11093	T	0.03023063	0.02650	0.047634337	0.06905	0.03023063	0.02649	0.047634337	0.06905	-3.439	0.15587	T	.	.	0.148	0.32780	B	.;.;.;.	.;.;.;.	-0.125449	0.03493	0.655	0.76233360432774233	0.11386	0.00438	0.02140	N	AEFDI	0.030502	0.03083	N	-2.28448563316595	0.00049	0.002117648	-2.34791405332045	0.00052	0.002280591	0.998763131798839	0.37623	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.02	-8.05	0.00976	-1.603000	0.02181	-2.292000	0.03941	-1.754000	0.00685	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4327:0.1326:0.1931:0.2416	0.815	0.01030	851	0.35303	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	215.42	19	chr3	195724763	.	G	A	215.42	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.83;DP=269;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0307;MLEAC=1;MLEAF=0.025;MQ=27.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=1.02;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:11,0:11:33:.:.:0,33,380	19	0	1	1
chr3	195725046	195725046	G	T	exonic	MUC20	.	nonsynonymous SNV	MUC20:NM_001282506:exon2:c.G443T:p.S148I	.	.	437	1047	37	1	0	39	0.0182841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.992	D	0.000	D	1.000	N	1.15	L	2.26	T	-0.874	T	0.115	T	0.673	2.661	14.86	3.63	1.225	2.223	8.898	0.161	0.0218980790304	.	.	8.293e-06	0.0001	0	0	0	0	0	0	0.0026894	70	26028	rs369019587	0.0003	0.0024	0.0003	0.0003	0.0063	0.0003	0.0003	0.0056	0.0053	0.0063	0.0005	0.0002	0.0004	0.0002	0.0016	6.594e-05	0.0003	0.0010	0.0010	0.0073	0.0009	0.0012	0.0016	0.0009	0.0008	0.0009	0.0008	0.0008	0.0012	0.0011	0.0006	0.0011	0.0015	0	0.0011	0	0.0016	0.021	0.50132	D	0.015	0.61642	D	1.0	0.90584	D	0.992	0.80445	D	0.000069	0.52346	D	0.000000	1	0.81001	D	1.895	0.50365	L	2.11	0.27486	T	-2.07	0.78046	N	0.511	0.60241	-0.8738	0.50241	T	0.115	0.40740	T	10	0.009695768	0.00218	T	0.021898	0.44729	T	0.161	0.41658	0.375	0.38830	0.0401082797425	0.02173	0.38443668743494736	0.38358	.	.	0.296985238791	0.09953	T	0.051845	0.48691	T	-0.0104339	0.50204	T	-0.252764	0.49543	T	0.0180324871293138	0.00527	T	0.522848	0.17081	T	0.18034686	0.39151	0.17408364	0.39779	0.18034686	0.39151	0.17408364	0.39778	-3.878	0.21973	T	.	.	0.198	0.45593	B	.;.;.;.	.;.;.;.	3.182996	0.43212	21.7	0.99587376711661724	0.73395	0.85805	0.44979	D	AEFDI	0.070631	0.14029	N	0.31139379516342	0.56734	3.838514	0.253520388367582	0.52850	3.457138	0.00138654049803063	0.08495	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.52	3.63	0.40741	1.468000	0.34941	5.911000	0.51023	0.670000	0.69193	0.999000	0.42656	1.000000	0.68203	0.848000	0.40082	0.1045:0.0:0.8955:0.0	8.898	0.34636	851	0.35303	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05263	370.56	155	chr3	195725046	.	G	T	370.56	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.05;DP=3216;ExcessHet=0.1128;FS=91.877;InbreedingCoeff=-0.0670;MLEAC=2;MLEAF=0.053;MQ=38.88;MQRankSum=-4.058e+00;QD=1.54;ReadPosRankSum=-2.877e+00;SOR=8.086	GT:AD:DP:GQ:PL	0/1:137,22:159:99:185,0,3127	17	0	2	2
chr3	195725265	195725265	C	T	exonic	MUC20	.	nonsynonymous SNV	MUC20:NM_001282506:exon2:c.C662T:p.P221L	.	.	1227	268	12	15	0	42	0.0726644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	.	.	.	.	.	.	1.000	N	0	N	3.15	T	-0.948	T	0.016	T	0.091	1.132	9.616	.	0.119	0.856	.	0.012	0.0279939078184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1178367301	0.0039	0.0022	0.0035	0.0042	0.0229	0.0036	0.0034	0.0194	0.0181	0	0.0229	0.0016	0.0004	0.0035	0	0.0017	0.0016	0.0098	0.0909	0.0077	0	0.1667	0.2500	0.0162	0.0068	.	.	.	.	0.2500	.	0	0.5000	.	0	.	.	0.935	0.05501	T	0.009	0.67890	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.97	0.13795	T	-0.71	0.20145	N	0.071	0.04426	-0.9482	0.41279	T	0.016	0.06473	T	5	0.0043722987	0.00089	T	0.027994	0.50737	D	0.012	0.01476	0.268	0.21576	.	.	0.08169079549289465	0.08104	.	.	.	.	.	0.002482	0.09657	T	-0.314255	0.07379	T	-0.689182	0.06436	T	0.0349274069218366	0.02795	T	.	.	.	0.046044763	0.07641	0.13236813	0.31765	0.046044763	0.07640	0.13236813	0.31764	-7.122	0.54919	T	.	.	0.357	0.69288	A	.;.;.	.;.;.	0.983081	0.13607	10.14	0.97336882581047512	0.33452	0.00384	0.01939	N	AEFI	0.051030	0.08975	N	-0.961609506576599	0.09433	0.4464343	-1.14477772820503	0.06862	0.3317746	1.15960121852374E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	1.090000	0.30514	0.659000	0.20486	0.196000	0.17891	0.011000	0.18532	0.001000	0.17328	0.019000	0.11356	.	.	.	851	0.35303	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2812	1276.28	7	chr3	195725265	.	C	T	1276.28	.	AC=9;AF=0.281;AN=32;BaseQRankSum=2.03;DP=174;ExcessHet=0.2102;FS=9.661;InbreedingCoeff=0.1472;MLEAC=11;MLEAF=0.344;MQ=27.87;MQRankSum=0.329;QD=17.02;ReadPosRankSum=-4.050e-01;SOR=3.729	GT:AD:DP:GQ:PL	0/0:14,0:14:30:0,30,450	9	2	5	5
chr3	195725627	195725797	TCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCTCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCC	-	exonic	MUC20	.	nonframeshift deletion	MUC20:NM_001282506:exon2:c.1024_1194del:p.R343_L536delinsWSPGSDVTLLAEALVTVTNIEVINCSITEIETTTSSIPGASDTDLIPTEGVKASSTSDPPALPDSTEAKPHITEVTASAETLSTAGTTESAAPDATVGTPLPTNSATEREVTAPGATTLSGALVTVSRNPLEETSALSVETPSYVKVSGAAPVSIEAGSAVGKTTSFAGSSASSYSPSEAALKNFTPSETPTMDIATKGPFPTSRDPLPSVPPTTTNSSRGTNSTLAKITTSAKTTMKPPTATPTTARTRPTTDVSAGENGGFLLLRLSVASPEDLTDPRVAERLMQQLHRELHAHAPHFQVSLLRVRRG*	.	.	1235	281	6	0	0	6	0.0105634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0117	0.0037	0.0117	0.0118	0.1099	0.0113	0.0111	0.0939	0.0879	0.1099	0.0072	0.0131	0.0182	0.0187	0.0136	0.0115	0.0163	0.0023	0.1786	0.0027	0.2083	0.1500	0.3393	0.1320	0.1159	0.2222	0.1847	0.3393	0	0.1250	0.2500	0.0556	0.0312	0	0.1923	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	1362.06	11	chr3	195725626	.	GTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCTCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCC	G	1362.06	.	AC=1;AF=0.031;AN=32;BaseQRankSum=2.12;DP=463;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0689;MLEAC=1;MLEAF=0.031;MQ=37.49;MQRankSum=0.342;QD=4.05;ReadPosRankSum=2.10;SOR=0.730	GT:AD:DP:GQ:PL	0/0:8,0:8:9:0,9,193	15	0	1	5
chr3	195725634	195725635	CC	-	exonic	MUC20	.	frameshift deletion	MUC20:NM_001282506:exon2:c.1031_1032del:p.A344Vfs*61,	.	.	1216	292	5	0	9	14	0.00848896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1203696921	0.0308	0.0076	0.0327	0.0293	0.1476	0.0300	0.0297	0.1285	0.1212	0.1476	0.0214	0.0717	0.0385	0.0200	0.0412	0.0309	0.0378	0.0218	0.0147	0.0018	0.0312	0	0.0455	0.0040	0.0021	0.0044	0.0019	0.0455	0	0	0	0	0	0	0.0250	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	3238.86	14	chr3	195725633	.	GCC	G,*	3238.86	.	AC=2,1;AF=0.059,0.029;AN=34;DP=339;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.4302;MLEAC=3,1;MLEAF=0.088,0.029;MQ=36.17;QD=17.14;SOR=1.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:8,0,0:8:24:.:.:0,24,233,24,233,233	15	0	1	4
chr3	195725633	195725635	GCC	0	exonic	MUC20	.	.	.	.	.	1216	292	5	0	9	14	0.00848896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	3238.86	14	chr3	195725633	.	GCC	G,*	3238.86	.	AC=2,1;AF=0.059,0.029;AN=34;DP=339;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.4302;MLEAC=3,1;MLEAF=0.088,0.029;MQ=36.17;QD=17.14;SOR=1.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:8,0,0:8:24:.:.:0,24,233,24,233,233	15	0	1	4
chr3	195725636	195725748	TCAGAGAGCAGCGCCTCTTCCGACGGCCTCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGC	0	exonic	MUC20	.	.	.	.	.	1183	326	9	0	4	13	0.0136157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	2552.58	14	chr3	195725636	.	TCAGAGAGCAGCGCCTCTTCCGACGGCCTCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGC	*,T	2552.58	.	AC=2,2;AF=0.059,0.059;AN=34;DP=570;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6985;MLEAC=3,3;MLEAF=0.088,0.088;MQ=37.63;QD=13.36;SOR=1.185	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:8,0,0:8:24:.:.:0,24,233,24,233,233	15	0	0	4
chr3	195725637	195725748	CAGAGAGCAGCGCCTCTTCCGACGGCCTCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGC	-	exonic	MUC20	.	frameshift deletion	MUC20:NM_001282506:exon2:c.1034_1145del:p.E346Qfs*32	.	.	1183	326	9	0	4	13	0.0136157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0202	0.0050	0.0209	0.0196	0.0718	0.0195	0.0193	0.0591	0.0545	0.0718	0.0127	0.0488	0.0280	0.0132	0.0281	0.0199	0.0246	0.0154	0.0430	0.0010	0.0571	0.0309	0.1562	0.0255	0.0202	0.0616	0.0400	0.1562	0	0.0208	0.1667	0	0	0	0.0469	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	2552.58	14	chr3	195725636	.	TCAGAGAGCAGCGCCTCTTCCGACGGCCTCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGC	*,T	2552.58	.	AC=2,2;AF=0.059,0.059;AN=34;DP=570;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6985;MLEAC=3,3;MLEAF=0.088,0.088;MQ=37.63;QD=13.36;SOR=1.185	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:8,0,0:8:24:.:.:0,24,233,24,233,233	15	0	0	4
chr3	195725704	195725704	C	0	exonic	MUC20	.	.	.	.	.	572	884	39	0	27	66	0.0215827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	53.89	38	chr3	195725704	.	C	T,*	53.89	.	AC=1,4;AF=0.033,0.133;AN=30;BaseQRankSum=-3.213e+00;DP=1678;ExcessHet=0.0000;FS=40.690;InbreedingCoeff=0.3516;MLEAC=1,5;MLEAF=0.033,0.167;MQ=40.34;MQRankSum=0.190;QD=0.27;ReadPosRankSum=-3.371e+00;SOR=0.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0,0:40:99:.:.:0,109,1407,109,1407,1407	12	0	1	6
chr3	195733202	195733202	G	A	exonic	MUC20	.	nonsynonymous SNV	MUC20:NM_001282506:exon4:c.G2114A:p.R705H	.	.	420	1091	11	0	0	11	0.00501596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.73	P	0.144	B	0.606	N	0.997	N	0.625	N	2.72	T	-1.023	T	0.022	T	0.286	0.740	7.927	1.46	0.538	0.288	5.816	0.028	.	0.0013	0.000998403	0.0046	0.0011	0.0004	0	0.0165	0.0046	0.0049	0.0055	0.0020569	318	154602	rs140657826	0.0026	0.0026	0.0026	0.0026	0.0040	0.0025	0.0025	0.0036	0.0035	0.0005	0.0002	0.0002	7.882e-05	0.0142	0.0021	0.0022	0.0027	0.0040	0.0026	0.0027	0.0023	0.0030	0.0033	0.0024	0.0023	0.0025	0.0023	0.0007	0	6.532e-05	0.0003	0	0.0154	0	0.0028	0.0005	0.0033	0.173	0.22573	T	0.133	0.34359	T	0.73	0.42641	P	0.144	0.33818	B	0.606453	0.10908	N	0.774714	0.999986	0.22840	N	1.355	0.33814	L	2.69	0.17596	T	-1.25	0.43149	N	0.161	0.25130	-1.0228	0.22802	T	0.022	0.09421	T	10	0.004782319	0.00101	T	.	.	.	0.028	0.06331	.	.	0.0138822411134	0.00435	0.056067761531843605	0.05547	.	.	0.3369795084	0.15985	T	0.010568	0.21799	T	-0.565819	0.00234	T	-0.58568	0.14043	T	0.0124333312482588	0.00204	T	0.646635	0.25786	T	0.031904172	0.03116	0.03558535	0.02838	0.031904172	0.03116	0.03558535	0.02838	-7.262	0.55925	T	.	.	0.126	0.26825	B	.;.;.	.;.;.	1.723419	0.21940	15.41	0.96356972786076622	0.29537	0.03308	0.08369	N	AEFDBHIJ	0.044540	0.07179	N	-0.564749849478855	0.20023	1.052514	-0.630300346832089	0.18716	1.001062	0.13784193717457	0.17216	0.549168	0.22868	0	0.588015	0.36545	0	0.573078	0.19857	0	0.616125	0.45549	0	.	.	4.24	1.46	0.21769	0.578000	0.23476	-0.924000	0.06908	0.663000	0.56723	0.200000	0.24308	0.000000	0.08366	0.025000	0.12405	0.3335:0.0:0.6665:0.0	5.816	0.17756	846	0.36215	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1144.98	35	chr3	195733202	.	G	A	1144.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.742;DP=884;ExcessHet=0.0000;FS=3.683;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.12;ReadPosRankSum=-1.080e-01;SOR=0.996	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1193	20	0	1	0
chr3	195778828	195778828	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12752A:p.T4251K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.975	D	0.766	P	0.420	N	1.000	N	1.15	L	1.33	T	-1.017	T	0.116	T	0.314	1.052	9.295	1.77	0.680	1.176	5.494	0.090	0.00475767157269	0.0005	.	0.0005	0	0.0002	0	0.0005	0.0007	0.0013	6.99e-05	0.0003881	60	154602	rs199497023	0.0006	0.0006	0.0006	0.0007	0.0008	0.0006	0.0006	0.0007	0.0007	0.0001	0.0002	0	0	0.0005	0	0.0008	0.0006	3.488e-05	0.0005	0.0005	0.0005	0.0005	0.0009	0.0004	0.0004	0.0007	0.0006	0.0001	0	0.0005	0.0003	0	0.0003	0	0.0009	0.0005	0.0002	0.0	0.91255	D	0.253	0.23501	T	.	.	.	.	.	.	0.420162	0.04643	N	1.458510	1	0.08975	N	.	.	.	1.33	0.35775	T	-1.98	0.56301	N	0.439	0.47765	-1.0171	0.24657	T	0.116	0.40919	T	9	0.061296016	0.07663	T	0.004758	0.11879	T	0.090	0.26093	.	.	0.0297737177859	0.01360	0.0625038059696498	0.06190	.	.	0.291265189648	0.09107	T	.	.	.	-0.146862	0.28804	T	-0.448734	0.27837	T	0.0612032674927412	0.07357	T	0.491551	0.15120	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.37951	B	.;.	.;.	1.451275	0.18725	13.89	0.88919214187006324	0.18362	0.06709	0.12730	N	AEFBI	0.096552	0.19490	N	-0.52786862249801	0.21184	1.12231	-0.716129884946913	0.16559	0.87658	3.77048271317003E-5	0.03775	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.66	1.77	0.23848	1.584000	0.36199	0.783000	0.21499	-0.140000	0.12423	0.033000	0.20612	0.001000	0.17328	0.001000	0.02609	0.1615:0.0:0.8385:0.0	5.494	0.16083	597	0.68309	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	5070.98	263	chr3	195778828	.	G	T	5070.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.160e+00;DP=5628;ExcessHet=0.0000;FS=3.043;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.70;ReadPosRankSum=-1.455e+00;SOR=0.547	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:265,0:265:99:.:.:0,117,1800	20	0	1	0
chr3	195778848	195778848	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12732G:p.S4244R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	P	0.244	B	.	.	1.000	N	0	N	1.34	T	-1.063	T	0.045	T	0.233	-0.622	1.237	0.884	0.287	0.047	5.245	0.022	0.001674397991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.851e-07	6.84e-07	1.363e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.26852	T	0.083	0.41573	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	1.34	0.40218	T	-1.4	0.41046	N	0.145	0.14622	-1.0635	0.10902	T	0.045	0.19152	T	8	0.09230414	0.16243	T	0.001674	0.02753	T	0.022	0.04323	.	.	0.0138822411134	0.00435	0.03665769502132762	0.03612	.	.	0.276885211468	0.07062	T	.	.	.	-0.243001	0.14968	T	-0.58683	0.13941	T	0.155504221895699	0.17533	T	0.715328	0.32778	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	0.56825	A	.;.	.;.	0.623142	0.09915	6.675	0.37993338942710736	0.02536	0.03384	0.08490	N	AEFBI	0.078138	0.15761	N	-0.971185810290453	0.09223	0.4356208	-1.07755433378981	0.08143	0.399099	1.43074782780278E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.85	0.884	0.18317	-0.012000	0.12637	0.749000	0.21222	-0.993000	0.01841	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.6596:0.3404	5.245	0.14808	597	0.68309	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	5028.98	263	chr3	195778848	.	G	C	5028.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.350e-01;DP=5699;ExcessHet=0.0000;FS=0.812;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.35;MQRankSum=-5.545e+00;QD=13.70;ReadPosRankSum=2.03;SOR=0.627	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:265,0:265:99:.:.:0,117,1800	20	0	1	0
chr3	195778964	195778964	C	0	exonic	MUC4	.	.	.	.	.	456	799	118	0	149	267	0.0687646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2692	1929.74	302	chr3	195778964	.	C	*,T	1929.74	.	AC=5,2;AF=0.192,0.077;AN=26;BaseQRankSum=1.84;DP=7379;ExcessHet=2.9153;FS=0.592;InbreedingCoeff=-0.2440;MLEAC=7,3;MLEAF=0.269,0.115;MQ=57.13;MQRankSum=-5.602e+00;QD=0.71;ReadPosRankSum=-4.412e+00;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:154,0,0:154:60:.:.:0,60,3135,60,3135,3135	6	0	5	8
chr3	195778967	195778967	G	0	exonic	MUC4	.	.	.	.	.	444	848	112	0	118	230	0.0619469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2083	1663.5	302	chr3	195778967	.	G	C,*	1663.5	.	AC=2,3;AF=0.083,0.125;AN=24;BaseQRankSum=2.58;DP=7152;ExcessHet=1.3830;FS=0.614;InbreedingCoeff=-0.1308;MLEAC=3,5;MLEAF=0.125,0.208;MQ=58.02;MQRankSum=0.102;QD=0.77;ReadPosRankSum=-1.159e+00;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:146,0,0:146:2:.:.:0,2,2944,2,2944,2944	7	0	2	9
chr3	195779036	195779036	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3667	73.76	280	chr3	195779036	.	T	*,G	73.76	.	AC=10,3;AF=0.333,0.100;AN=30;BaseQRankSum=-1.320e+00;DP=7021;ExcessHet=0.4264;FS=3.231;InbreedingCoeff=0.0544;MLEAC=13,4;MLEAF=0.433,0.133;MQ=54.24;MQRankSum=-3.656e+00;QD=0.02;ReadPosRankSum=-2.400e+00;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:102,0,19:121:32:.:.:32,327,2497,0,2170,2116	5	1	6	6
chr3	195779136	195779136	G	0	exonic	MUC4	.	.	.	.	.	440	961	82	1	38	122	0.0418744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	483.6	299	chr3	195779136	.	G	A,*	483.6	.	AC=1,1;AF=0.029,0.029;AN=34;BaseQRankSum=-1.404e+00;DP=6736;ExcessHet=0.1128;FS=0.000;InbreedingCoeff=-0.0959;MLEAC=1,1;MLEAF=0.029,0.029;MQ=49.00;MQRankSum=-4.360e+00;QD=0.83;ReadPosRankSum=-6.603e+00;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:339,0,0:339:0:.:.:0,0,5140,0,5140,5140	15	0	1	4
chr3	195779151	195779151	C	0	exonic	MUC4	.	.	.	.	.	427	1007	1	0	87	88	0.000496278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	123.42	299	chr3	195779151	.	C	G,*	123.42	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=2.19;DP=6404;ExcessHet=0.1128;FS=0.000;InbreedingCoeff=-0.0526;MLEAC=1,1;MLEAF=0.025,0.025;MQ=46.74;MQRankSum=-1.703e+00;QD=0.71;ReadPosRankSum=-1.954e+00;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:311,0,0:311:99:.:.:0,120,1800,120,1800,1800	18	0	1	1
chr3	195779166	195779166	G	0	exonic	MUC4	.	.	.	.	.	685	574	152	54	57	317	0.184659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	4306.89	387	chr3	195779166	.	G	T,*	4306.89	.	AC=2,1;AF=0.167,0.083;AN=12;BaseQRankSum=-9.300e-02;DP=7279;ExcessHet=0.0000;FS=2.157;InbreedingCoeff=0.2023;MLEAC=4,2;MLEAF=0.333,0.167;MQ=56.28;MQRankSum=-1.198e+01;QD=11.07;ReadPosRankSum=4.03;SOR=0.811	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:302,0,0:302:0:.:.:0,0,0,0,0,0	4	0	1	15
chr3	195779220	195779220	A	0	exonic	MUC4	.	.	.	.	.	729	613	71	27	82	207	0.0925241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	4281.86	308	chr3	195779220	.	A	C,*	4281.86	.	AC=3,1;AF=0.214,0.071;AN=14;BaseQRankSum=0.534;DP=5938;ExcessHet=0.0193;FS=0.533;InbreedingCoeff=0.1614;MLEAC=6,2;MLEAF=0.429,0.143;MQ=57.49;MQRankSum=-7.676e+00;QD=5.92;ReadPosRankSum=-3.394e+00;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:150,0,0:150:0:.:.:0,0,0,0,0,0	4	0	2	14
chr3	195779228	195779228	T	0	exonic	MUC4	.	.	.	.	.	740	633	67	26	56	175	0.0859206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2707.89	298	chr3	195779228	.	T	C,*	2707.89	.	AC=2,1;AF=0.167,0.083;AN=12;BaseQRankSum=2.43;DP=5664;ExcessHet=0.0000;FS=1.088;InbreedingCoeff=0.2023;MLEAC=4,2;MLEAF=0.333,0.167;MQ=57.42;MQRankSum=-1.212e+01;QD=6.70;ReadPosRankSum=-5.159e+00;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:139,0,0:139:0:.:.:0,0,0,0,0,0	4	0	1	15
chr3	195779335	195779335	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12245A:p.P4082H,	.	.	490	1018	7	3	4	17	0.00634456	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	B	0.012	B	.	.	1.000	N	0.55	N	1.58	T	-1.006	T	0.037	T	0.049	-0.126	3.381	.	0.064	-0.137	5.844	0.002	0.00180689246163	.	.	0.0009	0	0	0	0	0.0009	0	0.0013	.	.	.	.	0.0007	0.0012	0.0006	0.0008	0.0027	0.0007	0.0006	0.0024	0.0022	8.981e-05	0.0001	0.0045	0	0	0.0021	0.0005	0.0010	0.0027	4.457e-05	0.0002	0	9.163e-05	7.161e-05	1.441e-05	9.01e-06	1.899e-05	1.026e-05	4.107e-05	0	0	0	0	0	0	7.161e-05	0	0	0.072	0.42199	T	0.057	0.46406	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.55	0.29866	T	-0.18	0.09796	N	0.075	0.04913	-1.0064	0.28034	T	0.037	0.16160	T	7	0.025258154	0.00726	T	0.001807	0.03115	T	0.002	0.00045	0.164	0.06842	0.0138822411134	0.00435	0.006124461012039382	0.00581	.	.	0.525325775146	0.42376	T	.	.	.	-0.33395	0.05817	T	-0.717472	0.04918	T	0.0169262058219215	0.00443	T	0.470053	0.13899	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.31177	B	.;.	.;.	2.130127	0.27116	17.35	0.84023736791277071	0.15053	0.00538	0.02482	N	AEFBI	0.074869	0.15020	N	-1.22839780153285	0.04592	0.2075884	-1.35039577409552	0.03801	0.1780501	1.53857166002041E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	2.549000	0.45464	0.829000	0.21929	0.173000	0.17773	0.081000	0.22364	0.001000	0.17328	0.021000	0.11733	9.0E-4:0.0:0.9991:0.0	5.844	0.17905	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	66.34	193	chr3	195779335	.	G	T	66.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-6.250e-01;DP=3318;ExcessHet=0.0000;FS=15.164;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=57.57;MQRankSum=-1.579e+01;QD=0.26;ReadPosRankSum=-4.068e+00;SOR=1.947	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:18,0:18:54:.:.:0,54,436	19	0	1	1
chr3	195779344	195779344	C	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12236C:p.S4079T,	.	.	518	988	7	3	6	19	0.00653595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	B	0.042	B	.	.	0.582	N	0	N	1.39	T	-1.009	T	0.035	T	0.06	-1.145	0.106	.	-1.707	-0.590	5.400	0.023	0.00354025192197	.	0.00259585	0.0008	0.0043	0	0	0	0.0008	0	0.0002	0.0006916	18	26028	rs201606843	0.0010	0.0047	0.0007	0.0012	0.0042	0.0009	0.0009	0.0037	0.0036	0.0014	0.0008	0.0074	0.0017	0.0003	0.0008	0.0006	0.0017	0.0042	0.0012	0.0035	0.0014	0.0009	0.0028	0.0009	0.0008	0.0021	0.0018	0.0028	0	0.0008	0	0	0.0004	0.0156	0.0007	0	0	1.0	0.00964	T	0.458	0.12668	T	.	.	.	.	.	.	.	.	.	.	1	0.31088	N	.	.	.	1.29	0.35775	T	-0.22	0.10480	N	0.055	0.03956	-1.0089	0.27261	T	0.035	0.15074	T	7	0.010114998	0.00226	T	0.00354	0.08062	T	0.023	0.04649	.	.	0.0138822411134	0.00435	0.0010827751267465356	0.00100	.	.	0.597083687782	0.52493	T	.	.	.	-0.337964	0.05531	T	-0.723239	0.04641	T	0.000837459423592235	0.00008	T	0.49605	0.15399	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07745	B	.;.	.;.	-0.779922	0.01146	0.054	0.2084108579602908	0.00768	0.00091	0.00603	N	AEFBI	0.062084	0.11912	N	-1.85706924428011	0.00420	0.01806415	-1.94315667313069	0.00401	0.01773408	1.71647384336543E-4	0.05786	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	0.386000	0.20429	-0.460000	0.09044	-2.225000	0.00346	0.024000	0.20007	0.000000	0.08366	0.008000	0.08271	0.0:0.7312:0.0:0.2688	5.400	0.15591	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	606.34	193	chr3	195779344	.	C	G	606.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.507e+00;DP=3357;ExcessHet=0.0000;FS=16.284;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=57.32;MQRankSum=-1.620e+01;QD=2.29;ReadPosRankSum=-4.960e+00;SOR=1.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:18,0:18:54:.:.:0,54,446	19	0	1	1
chr3	195779348	195779348	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A12232G:p.T4078A,	.	.	497	1010	7	3	5	18	0.00639449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	B	0.0	B	.	.	1.000	N	0.55	N	1.53	T	-1.031	T	0.036	T	0.069	-1.252	0.050	.	-2.652	-0.600	0.133	0.116	0.00558112130345	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs867000502	0.0008	0.0024	0.0005	0.0010	0.0038	0.0007	0.0007	0.0034	0.0032	9.228e-05	0.0002	0.0068	0.0005	0.0001	0.0007	0.0005	0.0016	0.0038	6.432e-05	0.0005	4.996e-05	7.957e-05	0.0001	2.479e-05	1.564e-05	3.594e-05	2.179e-05	4.781e-05	0	0	0	0	0	0	0.0001	0	0	0.399	0.10517	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.53	0.34050	T	-0.2	0.10656	N	0.025	0.01135	-1.0312	0.20066	T	0.036	0.15378	T	7	0.032523215	0.01406	T	0.005581	0.14409	T	0.116	0.32463	0.141	0.04462	0.0138822411134	0.00435	0.0016348145852771723	0.00151	.	.	0.513516902924	0.40715	T	.	.	.	-0.330307	0.06089	T	-0.71224	0.05180	T	0.0395774206418778	0.03613	T	0.445855	0.12478	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05231	B	.;.	.;.	0.063231	0.04735	1.364	0.15367596653047688	0.00373	0.00120	0.00751	N	AEFBI	0.062070	0.11907	N	-1.89793912134882	0.00347	0.01488908	-2.00956016551023	0.00292	0.01290975	2.42342441530431E-4	0.06141	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	0.450000	0.21475	-3.779000	0.02542	0.085000	0.17582	0.002000	0.15269	0.000000	0.08366	0.016000	0.10718	0.2464:0.2537:0.2463:0.2535	0.133	0.00070	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	876.34	193	chr3	195779348	.	T	C	876.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=3.93;DP=3359;ExcessHet=0.0000;FS=14.518;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=56.92;MQRankSum=-1.594e+01;QD=3.31;ReadPosRankSum=-4.970e+00;SOR=1.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:18,0:18:54:.:.:0,54,435	19	0	1	1
chr3	195779351	195779351	C	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12229C:p.D4077H,	.	.	505	1001	7	3	6	19	0.00645161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.932	P	0.19	B	.	.	1.000	N	0.55	N	1.49	T	-1.061	T	0.028	T	0.046	-1.702	0.011	.	-2.006	0.400	2.748	0.128	0.00220071018002	.	0.00259585	0	0	0	0	0	0	0	0	0.0005379	14	26028	rs571574310	0.0008	0.0021	0.0005	0.0010	0.0038	0.0007	0.0007	0.0034	0.0032	0.0001	0.0002	0.0068	0.0004	3.314e-05	0.0007	0.0005	0.0016	0.0038	9.644e-05	0.0008	0.0001	8.559e-05	0.0001	4.498e-05	3.167e-05	3.837e-05	2.276e-05	0.0001	0	0.0001	0	0	0	0	0.0001	0	0	0.3	0.16091	T	0.106	0.38160	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.49	0.31731	T	-0.38	0.15379	N	0.065	0.03841	-1.0614	0.11410	T	0.028	0.11882	T	7	0.0069993734	0.00159	T	0.002201	0.04151	T	0.128	0.35103	0.151	0.05441	0.0138822411134	0.00435	0.002611084531484482	0.00242	.	.	0.556186378002	0.46729	T	.	.	.	-0.363594	0.03931	T	-0.760054	0.03111	T	0.0268409512829791	0.01522	T	0.605039	0.22725	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.24260	B	.;.	.;.	0.228750	0.06102	2.547	0.1122228957335428	0.00163	0.00416	0.02058	N	AEFBI	0.080898	0.16362	N	-1.54262066526545	0.01577	0.06894808	-1.74102727225216	0.00968	0.04333797	1.43075145935211E-4	0.05573	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-0.108000	0.10827	-5.597000	0.01661	0.078000	0.17572	0.001000	0.13787	0.000000	0.08366	0.017000	0.10941	0.2996:0.4006:0.2998:0.0	2.748	0.04947	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	1203.33	193	chr3	195779351	.	C	G	1203.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.38;DP=3375;ExcessHet=0.0000;FS=12.866;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=56.36;MQRankSum=-1.604e+01;QD=4.38;ReadPosRankSum=-4.987e+00;SOR=1.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:18,0:18:54:.:.:0,54,435	19	0	1	1
chr3	195779372	195779372	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12208A:p.P4070T,	.	.	482	1018	7	6	9	28	0.00924574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	B	0.0	B	.	.	1.000	N	0.345	N	1.57	T	-1.008	T	0.031	T	0.057	-1.684	0.012	.	-0.833	-0.028	2.167	0.033	0.0196441212856	.	.	5.894e-05	0	0	0	0	0.0001	0	0	.	.	.	rs867543975	0.0008	0.0008	0.0006	0.0009	0.0035	0.0007	0.0007	0.0031	0.0030	4.355e-05	0.0001	0.0064	0	0	0.0021	0.0005	0.0014	0.0035	0.0001	0.0006	9.96e-05	0.0001	0.0006	5.096e-05	3.673e-05	7.037e-05	4.828e-05	0	0	0	0	0.0006	0.0002	0	0.0002	0	0	0.29	0.14996	T	0.199	0.27943	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.57	0.29602	T	-0.37	0.15782	N	0.017	0.00226	-1.0077	0.27634	T	0.031	0.13418	T	7	0.034207344	0.01621	T	0.019644	0.42054	T	0.033	0.08068	.	.	0.0138822411134	0.00435	0.004583564881801972	0.00431	.	.	0.555163383484	0.46585	T	.	.	.	-0.372528	0.03468	T	-0.772887	0.02674	T	0.0338267409433816	0.02608	T	0.59684	0.22194	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.01534	B	.;.	.;.	-0.246798	0.02861	0.404	0.72364385229519168	0.09947	0.00065	0.00468	N	AEFBI	0.046793	0.07810	N	-1.3404336947986	0.03225	0.1436975	-1.45104001981547	0.02761	0.1275674	1.18676957427108E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-0.340000	0.07868	-8.022000	0.01043	-2.279000	0.00328	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.3306:0.3412:0.3282	2.167	0.03603	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02778	1760.1	193	chr3	195779372	.	G	T	1760.1	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-8.950e-01;DP=3465;ExcessHet=0.0000;FS=15.550;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.028;MQ=55.92;MQRankSum=-1.574e+01;QD=6.38;ReadPosRankSum=-9.870e-01;SOR=1.384	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:22,0:22:66:.:.:0,66,575	17	0	1	3
chr3	195779374	195779374	C	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12206T:p.S4069I,	.	.	684	807	3	3	25	34	0.00554529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	B	0.004	B	.	.	0.000	P	0.55	N	0.95	T	-0.996	T	0.000	T	0.084	0.133	4.718	.	0.488	-0.936	3.451	0.014	.	.	0.00299521	0.0003	0.0015	0	0.0119	0	0.0002	0	0	0.0184801	481	26028	rs150394536	0.0009	0.0027	0.0008	0.0009	0.0072	0.0008	0.0008	0.0061	0.0057	0.0004	0.0022	0.0025	0.0072	0.0010	0	0.0005	0.0013	0.0019	0.0003	0.0061	0.0002	0.0004	0.0011	0.0002	0.0002	0.0002	0.0002	0.0002	0	0.0003	0.0009	0	0.0006	0	0.0004	0	0.0011	0.002	0.72154	D	0.056	0.46862	T	.	.	.	.	.	.	.	.	.	.	0.997681	0.58761	P	.	.	.	0.95	0.51474	T	-0.92	0.24676	N	0.054	0.03841	-0.9961	0.31001	T	0.000	0.00011	T	6	0.0044411123	0.00091	T	.	.	.	0.014	0.01968	.	.	0.0806252709748	0.07271	0.003929468286863758	0.00367	.	.	0.550907731056	0.45985	T	.	.	.	-0.721069	0.00027	T	-0.664722	0.07951	T	0.00241374731233886	0.00025	T	0.549445	0.18903	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.26855	B	.;.	.;.	1.302655	0.17048	12.93	0.9065680457689167	0.19908	0.00254	0.01397	N	AEFBI	0.066007	0.12904	N	-1.23915372028269	0.04444	0.2005883	-1.34796285310444	0.03830	0.1794608	1.1905244374725E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-3.401000	0.00537	-5.477000	0.01704	-1.810000	0.00613	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4478:0.552:1.0E-4:1.0E-4	3.451	0.07067	601	0.67921	.;.	.	.	.	.	rs150394536	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.08333	1896.92	193	chr3	195779374	.	C	A,T	1896.92	.	AC=1,1;AF=0.042,0.042;AN=24;BaseQRankSum=-3.165e+00;DP=3512;ExcessHet=0.1639;FS=4.062;InbreedingCoeff=0.2768;MLEAC=2,2;MLEAF=0.083,0.083;MQ=57.65;MQRankSum=-1.405e+01;QD=3.82;ReadPosRankSum=2.94;SOR=1.060	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:23,0,0:23:0:.:.:0,0,0,0,0,0	10	0	1	9
chr3	195779374	195779374	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12206A:p.S4069N,	.	.	684	807	3	3	25	34	0.00554529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.797	P	0.183	B	.	.	1.000	N	0.55	N	0.97	T	-1.073	T	0.057	T	0.053	0.183	4.983	.	0.488	-0.936	3.451	0.043	0.0128577008312	.	.	7.978e-05	0	0	0	0	0.0002	0	0	.	.	.	rs150394536	0.0013	0.0011	0.0011	0.0015	0.0041	0.0012	0.0012	0.0037	0.0035	5.063e-05	0.0001	0.0083	0	0	0.0008	0.0010	0.0019	0.0041	0.0001	0.0004	6.219e-05	0.0002	0.0002	5.226e-05	3.671e-05	0.0001	7.961e-05	0	0	0	0	0	0	0	0.0002	0	0	0.05	0.39575	D	0.145	0.33109	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.97	0.50976	T	-0.38	0.13418	N	0.027	0.01347	-1.0732	0.08724	T	0.057	0.23980	T	7	0.04491505	0.03503	T	0.012858	0.31797	T	0.043	0.11576	0.132	0.03662	0.0138822411134	0.00435	0.0015149652723430009	0.00140	.	.	0.555448949337	0.46625	T	.	.	.	-0.340207	0.05374	T	-0.72646	0.04489	T	0.0234442759583474	0.01076	T	0.524548	0.17205	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.32827	B	.;.	.;.	-0.337979	0.02454	0.282	0.57510427609479231	0.05785	0.00260	0.01424	N	AEFBI	0.098906	0.19920	N	-0.957344642240742	0.09529	0.4513623	-1.15047258852807	0.06760	0.3264632	1.1905244374725E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-3.401000	0.00537	-5.477000	0.01704	-1.810000	0.00613	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4478:0.552:1.0E-4:1.0E-4	3.451	0.07067	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1896.92	193	chr3	195779374	.	C	A,T	1896.92	.	AC=1,1;AF=0.042,0.042;AN=24;BaseQRankSum=-3.165e+00;DP=3512;ExcessHet=0.1639;FS=4.062;InbreedingCoeff=0.2768;MLEAC=2,2;MLEAF=0.083,0.083;MQ=57.65;MQRankSum=-1.405e+01;QD=3.82;ReadPosRankSum=2.94;SOR=1.060	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:23,0,0:23:0:.:.:0,0,0,0,0,0	10	0	1	9
chr3	195779375	195779375	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A12205G:p.S4069G,	.	.	488	1019	3	3	9	18	0.00439668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.618	P	0.128	B	.	.	1.000	N	0.55	N	1.03	T	-1.069	T	0.057	T	0.081	-0.351	2.343	.	0.408	0.477	3.255	0.063	0.0128824445826	.	.	5.854e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs747726297	0.0007	0.0007	0.0005	0.0009	0.0034	0.0007	0.0007	0.0031	0.0029	4.264e-05	0.0001	0.0063	0	0	0.0007	0.0004	0.0014	0.0034	3.763e-05	0.0003	2.444e-05	5.152e-05	8.032e-05	9.99e-06	4.77e-06	2.129e-05	1.09e-05	0	0	0	0	0	0	0	8.032e-05	0	0	0.035	0.43708	D	0.112	0.37310	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.03	0.46777	T	-1.1	0.28497	N	0.019	0.00618	-1.0692	0.09590	T	0.057	0.24055	T	7	0.055978596	0.06203	T	0.012882	0.31834	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.0018607697187511334	0.00172	.	.	0.519302546978	0.41528	T	.	.	.	-0.32519	0.06481	T	-0.70489	0.05562	T	0.0232069504183903	0.01047	T	0.720928	0.33404	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.26638	B	.;.	.;.	0.266663	0.06444	2.919	0.30910586073570662	0.01715	0.00752	0.03125	N	AEFBI	0.114220	0.22507	N	-0.993415001990743	0.08743	0.4111488	-1.165294542488	0.06497	0.3129581	1.16204050497744E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-0.880000	0.04291	-4.866000	0.01950	-1.782000	0.00650	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	1.0E-4:1.0E-4:0.4478:0.552	3.255	0.06426	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	1749.1	193	chr3	195779375	.	T	C	1749.1	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.595e+00;DP=3487;ExcessHet=0.0000;FS=15.438;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.028;MQ=55.85;MQRankSum=-1.583e+01;QD=6.27;ReadPosRankSum=-2.100e-01;SOR=1.388	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:24,0:24:72:.:.:0,72,623	17	0	1	3
chr3	195779390	195779390	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12190A:p.P4064T,	.	.	455	1056	3	3	5	14	0.00424328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347	B	0.043	B	.	.	1.000	N	0.55	N	1.21	T	-1.050	T	0.047	T	0.05	-0.440	1.957	.	-0.417	-1.594	4.395	0.002	0.00216979468948	.	.	5.885e-05	0	0	0	0	0.0001	0	0	.	.	.	rs377680835	0.0006	0.0006	0.0005	0.0008	0.0032	0.0006	0.0006	0.0028	0.0027	0	9.694e-05	0.0059	0	0	0.0006	0.0004	0.0012	0.0032	3.747e-05	0.0002	2.434e-05	5.132e-05	8.215e-05	9.95e-06	4.76e-06	2.177e-05	1.103e-05	0	0	0	0	0	0	0	8.215e-05	0	0	0.01	0.56456	D	0.81	0.04079	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.21	0.39223	T	1.13	0.01949	N	0.017	0.00372	-1.0497	0.14481	T	0.047	0.20275	T	7	0.05192232	0.05146	T	0.00217	0.04071	T	0.002	0.00045	0.173	0.07894	0.0138822411134	0.00435	0.0015594181715905598	0.00143	.	.	0.556219995022	0.46734	T	.	.	.	-0.278186	0.10861	T	-0.637371	0.09863	T	0.0664544471469562	0.08144	T	0.813419	0.46649	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.02458	B	.;.	.;.	0.653005	0.10212	6.953	0.80725508010237279	0.13339	0.00023	0.00238	N	AEFBI	0.040914	0.06150	N	-1.22252448038688	0.04675	0.2114811	-1.37461058520955	0.03525	0.1645831	1.93577006927337E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	0.208000	0.17212	-4.246000	0.02259	0.086000	0.17587	0.669000	0.28339	0.000000	0.08366	0.023000	0.12082	0.3325:0.0:0.6675:0.0	4.395	0.10790	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	1749.04	193	chr3	195779390	.	G	T	1749.04	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-6.450e-01;DP=3630;ExcessHet=0.0000;FS=13.954;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.031;MQ=56.33;MQRankSum=-1.557e+01;QD=6.36;ReadPosRankSum=4.00;SOR=1.404	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,101,822	15	0	1	5
chr3	195779392	195779392	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12188G:p.T4063S,	.	.	456	1055	3	3	5	14	0.00424729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	B	0.003	B	.	.	0.998	N	0.55	N	1.59	T	-1.006	T	0.040	T	0.084	0.146	4.783	.	0.488	0.775	6.707	0.024	0.00169975901753	.	.	5.896e-05	0	0	0	0	0.0002	0	0	.	.	.	rs549946968	0.0006	0.0006	0.0005	0.0007	0.0030	0.0006	0.0006	0.0027	0.0026	0	9.241e-05	0.0052	0	0	0.0006	0.0004	0.0011	0.0030	3.657e-05	0.0001	2.373e-05	5.014e-05	8.106e-05	9.71e-06	4.69e-06	2.149e-05	1.095e-05	0	0	0	0	0	0	0	8.106e-05	0	0	0.139	0.28646	T	0.257	0.23231	T	.	.	.	.	.	.	.	.	.	.	1	0.22150	N	.	.	.	1.59	0.31205	T	-0.52	0.18248	N	0.054	0.02559	-1.0065	0.28004	T	0.040	0.17191	T	7	0.053790867	0.05627	T	0.002	0.02830	T	0.024	0.04979	0.094	0.01195	0.0138822411134	0.00435	0.0020188336523209852	0.00186	.	.	0.523128151894	0.42066	T	.	.	.	-0.291532	0.09483	T	-0.656542	0.08502	T	0.0377629015682616	0.03290	T	0.466053	0.13673	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.26669	B	.;.	.;.	1.256625	0.16543	12.61	0.46672847949078178	0.03756	0.01261	0.04425	N	AEFBI	0.072068	0.14370	N	-1.18907812038378	0.05165	0.2347855	-1.29624405083705	0.04481	0.2114758	8.37637314344522E-5	0.04703	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-0.083000	0.11250	0.943000	0.22867	0.086000	0.17587	0.333000	0.25615	0.001000	0.17328	0.022000	0.11911	2.0E-4:0.0:0.9998:0.0	6.707	0.22443	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	1748.54	193	chr3	195779392	.	G	C	1748.54	.	AC=1;AF=0.029;AN=34;BaseQRankSum=3.27;DP=3632;ExcessHet=0.0000;FS=14.093;InbreedingCoeff=-0.0667;MLEAC=1;MLEAF=0.029;MQ=56.44;MQRankSum=-1.554e+01;QD=6.38;ReadPosRankSum=4.46;SOR=1.392	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,101,822	16	0	1	4
chr3	195779396	195779396	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12184A:p.A4062T,	.	.	721	773	10	13	5	41	0.022756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	B	0.0	B	.	.	1.000	P	0.55	N	1.1	T	-1.022	T	0.049	T	0.041	-1.082	0.160	.	-0.417	-0.026	2.145	0.018	.	.	0.00658946	0.0004	0.0016	0	0.0122	0	0.0006	0	0	0.0087214	227	26028	rs1045994646	0.0023	0.0034	0.0020	0.0026	0.0070	0.0022	0.0021	0.0059	0.0057	0.0012	0.0023	0.0127	0.0070	0.0009	0.0018	0.0015	0.0033	0.0065	0.0005	0.0066	0.0005	0.0006	0.0018	0.0004	0.0003	0.0005	0.0003	0.0004	0	0.0002	0.0010	0	0.0010	0	0.0006	0	0.0018	0.381	0.11156	T	0.32	0.19421	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	1.09	0.39223	T	0.15	0.05310	N	0.027	0.01911	-1.0217	0.23162	T	0.049	0.20947	T	6	0.004883051	0.00104	T	.	.	.	0.018	0.03083	.	.	0.0138822411134	0.00435	8.859181890935445E-4	0.00081	.	.	0.561056256294	0.47417	T	.	.	.	-0.33961	0.05414	T	-0.725603	0.04530	T	0.00650792362145855	0.00073	T	0.644935	0.25655	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04356	B	.;.	.;.	-0.182403	0.03181	0.522	0.11935079734247947	0.00193	0.00048	0.00378	N	AEFBI	0.042374	0.06568	N	-1.28913511390244	0.03805	0.1706414	-1.40577124198539	0.03194	0.1484848	1.87232314028135E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-0.704000	0.05160	-4.490000	0.02130	-1.810000	0.00613	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.3304:0.3444:0.3251	2.145	0.03553	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.1364	1870.85	193	chr3	195779396	.	C	T	1870.85	.	AC=3;AF=0.136;AN=22;BaseQRankSum=-2.859e+00;DP=3676;ExcessHet=0.5115;FS=4.062;InbreedingCoeff=0.1600;MLEAC=5;MLEAF=0.227;MQ=57.91;MQRankSum=-1.311e+01;QD=2.58;ReadPosRankSum=3.40;SOR=1.058	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:34,0:34:0:.:.:0,0,0	8	0	3	10
chr3	195779399	195779399	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12181G:p.H4061D,	.	.	479	819	90	122	12	346	0.169371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	B	0.0	B	.	.	1.000	N	0.55	N	1.55	T	-1.006	T	0.036	T	0.079	-1.535	0.016	.	-0.833	-0.021	4.708	0.013	0.00218180284521	.	0.000199681	0.0001	0	0	0	0	0.0002	0	0.0002	1.29e-05	2	154602	rs547257415	0.0006	0.0007	0.0004	0.0007	0.0030	0.0005	0.0005	0.0027	0.0026	4.2e-05	9.345e-05	0.0046	3.482e-05	0	0.0006	0.0004	0.0010	0.0030	3.88e-05	0.0004	2.522e-05	5.311e-05	8.501e-05	1.03e-05	4.86e-06	2.253e-05	1.224e-05	0	0	0	0	0	0	0	8.501e-05	0	0	1.0	0.00964	T	0.564	0.08991	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.49	0.31470	T	-0.08	0.10480	N	0.275	0.33578	-1.0061	0.28126	T	0.036	0.15422	T	7	0.036696404	0.01982	T	0.002182	0.04098	T	0.013	0.01715	.	.	0.0138822411134	0.00435	0.0021866061651874694	0.00202	.	.	0.568512201309	0.48467	T	.	.	.	-0.315178	0.07299	T	-0.690508	0.06360	T	0.0220143818898419	0.00910	T	0.528747	0.17479	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08802	B	.;.	.;.	1.068807	0.14510	11.08	0.47329398998956096	0.03861	0.00301	0.01603	N	AEFBI	0.072871	0.14556	N	-1.32045032849468	0.03442	0.1537419	-1.44176183161681	0.02845	0.1316572	1.19772475481673E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-0.326000	0.08008	-1.290000	0.05802	0.086000	0.17587	0.000000	0.06391	0.007000	0.19602	0.022000	0.11911	1.0E-4:0.0:0.6463:0.3536	4.708	0.12239	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.225	36608.93	193	chr3	195779399	.	GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC	G,CACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC	36608.93	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=1.51;DP=4301;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=57.38;MQRankSum=-7.921e+00;QD=16.79;ReadPosRankSum=0.561;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0:34:84:.:.:0,84,800,84,800,800	13	2	4	1
chr3	195779400	195779400	A	0	exonic	MUC4	.	.	.	.	.	692	592	97	123	18	361	0.224623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	159.86	193	chr3	195779400	.	A	T,*	159.86	.	AC=2,9;AF=0.071,0.321;AN=28;BaseQRankSum=-3.875e+00;DP=4316;ExcessHet=1.5306;FS=0.000;InbreedingCoeff=0.0793;MLEAC=3,12;MLEAF=0.107,0.429;MQ=58.96;MQRankSum=-1.218e+01;QD=0.07;ReadPosRankSum=3.26;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:34,0,0:34:0:.:.:0,0,0,0,0,0	5	0	2	7
chr3	195779404	195779404	G	0	exonic	MUC4	.	.	.	.	.	476	823	94	122	7	345	0.170363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	2388.95	193	chr3	195779404	.	G	*,C	2388.95	.	AC=7,1;AF=0.184,0.026;AN=38;BaseQRankSum=-3.053e+00;DP=4001;ExcessHet=0.0354;FS=0.000;InbreedingCoeff=0.3277;MLEAC=8,1;MLEAF=0.211,0.026;MQ=56.64;MQRankSum=-1.569e+01;QD=1.40;ReadPosRankSum=6.49;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0:34:99:.:.:0,101,830,101,830,830	13	2	3	2
chr3	195779404	195779404	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12176G:p.T4059R,	.	.	476	823	94	122	7	345	0.170363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	B	0.007	B	.	.	1.000	N	0.55	N	1.17	T	-1.030	T	0.056	T	0.05	0.115	4.621	.	0.488	0.295	6.707	0.009	0.00182528942992	.	.	7.262e-05	0	0	0	0	0.0002	0	0	.	.	.	rs776979023	0.0009	0.0009	0.0007	0.0011	0.0040	0.0009	0.0009	0.0036	0.0035	0.0001	0.0001	0.0070	0	0	0.0009	0.0006	0.0016	0.0040	4.891e-05	0.0002	3.186e-05	6.678e-05	0.0001	1.298e-05	6.6e-06	3.471e-05	1.834e-05	0	0	0	0	0	0	0	0.0001	0	0	0.027	0.49613	D	0.119	0.36101	T	.	.	.	.	.	.	.	.	.	.	1	0.19363	N	.	.	.	1.12	0.38718	T	-0.72	0.20358	N	0.076	0.05037	-1.0299	0.20487	T	0.056	0.23639	T	7	0.042829275	0.03071	T	0.001825	0.03141	T	0.009	0.00846	0.264	0.20946	0.0401082797425	0.02173	0.010072051980256853	0.00969	.	.	0.559079825878	0.47139	T	.	.	.	-0.273447	0.11375	T	-0.630564	0.10373	T	0.0419996122301424	0.04055	T	0.784022	0.42156	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.30920	B	.;.	.;.	1.950288	0.24774	16.52	0.74889682782063816	0.10865	0.00529	0.02453	N	AEFBI	0.067654	0.13309	N	-1.1883514193745	0.05176	0.2353132	-1.30398640180941	0.04378	0.2063858	3.08878075065964E-5	0.03498	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	0.997000	0.29333	0.217000	0.16029	0.086000	0.17587	0.024000	0.20007	0.001000	0.17328	0.023000	0.12082	2.0E-4:0.0:0.9998:0.0	6.707	0.22443	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2105	2388.95	193	chr3	195779404	.	G	*,C	2388.95	.	AC=7,1;AF=0.184,0.026;AN=38;BaseQRankSum=-3.053e+00;DP=4001;ExcessHet=0.0354;FS=0.000;InbreedingCoeff=0.3277;MLEAC=8,1;MLEAF=0.211,0.026;MQ=56.64;MQRankSum=-1.569e+01;QD=1.40;ReadPosRankSum=6.49;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0:34:99:.:.:0,101,830,101,830,830	13	2	3	2
chr3	195779410	195779410	A	0	exonic	MUC4	.	.	.	.	.	5	164	3	1	53	58	0.015015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2377.19	193	chr3	195779410	.	A	*,G	2377.19	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=3.77;DP=4183;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.71;MQRankSum=-1.575e+01;QD=1.14;ReadPosRankSum=7.26;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0:34:99:.:.:0,101,830,101,830,830	13	2	4	1
chr3	195779411	195779411	A	0	exonic	MUC4	.	.	.	.	.	505	777	88	120	32	360	0.174283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2371.19	193	chr3	195779411	.	A	*,C	2371.19	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=3.15;DP=4177;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.77;MQRankSum=-1.575e+01;QD=1.14;ReadPosRankSum=7.43;SOR=0.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0:34:99:.:.:0,101,830,101,830,830	13	2	4	1
chr3	195779418	195779418	A	0	exonic	MUC4	.	.	.	.	.	494	812	89	120	7	336	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2367.15	193	chr3	195779418	.	A	*,AGG	2367.15	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=1.52;DP=4182;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.77;MQRankSum=-1.581e+01;QD=1.14;ReadPosRankSum=7.93;SOR=0.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0:34:99:.:.:0,101,830,101,830,830	13	2	4	1
chr3	195779418	195779418	-	GG	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.12161_12162insCC:p.S4055Lfs*205,	.	.	494	812	89	120	7	336	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.195e-05	0	0	0	0	0.0002	0	0	.	.	.	rs760455429	0.0011	0.0014	0.0008	0.0014	0.0041	0.0010	0.0010	0.0037	0.0035	0.0010	0.0002	0.0067	0.0001	6.627e-05	0.0009	0.0007	0.0018	0.0041	0.0004	0.0009	0.0004	0.0003	0.0005	0.0002	0.0002	0.0003	0.0002	0.0005	0	0	0	0	0	0	0.0004	0.0027	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2367.15	193	chr3	195779418	.	A	*,AGG	2367.15	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=1.52;DP=4182;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.77;MQRankSum=-1.581e+01;QD=1.14;ReadPosRankSum=7.93;SOR=0.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0:34:99:.:.:0,101,830,101,830,830	13	2	4	1
chr3	195779420	195779422	CAT	0	exonic	MUC4	.	.	.	.	.	7	164	1	0	54	55	0.00303951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2367.15	193	chr3	195779420	.	CAT	*,C	2367.15	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=1.02;DP=4192;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.85;MQRankSum=-1.604e+01;QD=1.13;ReadPosRankSum=7.58;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0:34:99:.:.:0,101,830,101,830,830	13	2	4	1
chr3	195779421	195779422	AT	-	exonic;splicing	MUC4;MUC4	NM_001322468:exon17:r.spl	frameshift deletion	MUC4:NM_018406:exon2:c.12158_12159del:p.N4053Sfs*24,	.	.	537	766	92	121	6	340	0.178992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0321	.	0.0002	0.0007	0	0	0	0.0002	0	0	.	.	.	rs749974981	0.0014	0.0014	0.0011	0.0017	0.0050	0.0013	0.0013	0.0045	0.0043	0.0013	0.0003	0.0108	0.0002	9.483e-05	0.0012	0.0009	0.0024	0.0050	0.0008	0.0015	0.0008	0.0007	0.0011	0.0005	0.0004	0.0006	0.0004	0.0011	0	0	0	0	0	0	0.0009	0.0049	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2367.15	193	chr3	195779420	.	CAT	*,C	2367.15	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=1.02;DP=4192;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.85;MQRankSum=-1.604e+01;QD=1.13;ReadPosRankSum=7.58;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0:34:99:.:.:0,101,830,101,830,830	13	2	4	1
chr3	195779431	195779431	G	0	exonic	MUC4	.	.	.	.	.	490	812	89	120	11	340	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2367.19	193	chr3	195779431	.	G	*,T	2367.19	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=-4.960e-01;DP=4177;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.82;MQRankSum=-1.595e+01;QD=1.14;ReadPosRankSum=6.18;SOR=0.650	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0,0:35:99:.:.:0,99,1485,99,1485,1485	13	2	4	1
chr3	195779431	195779431	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12149A:p.P4050H	.	.	490	812	89	120	11	340	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	B	0.018	B	.	.	1.000	N	0.55	N	1.36	T	-1.020	T	0.047	T	0.061	0.033	4.183	.	0.488	-2.428	6.707	0.007	0.00258057017812	.	.	0.0021	0.0021	0	0	0	0.0008	0	0.0039	0.0001537	4	26028	rs1480550642	0.0014	0.0013	0.0011	0.0018	0.0074	0.0014	0.0013	0.0059	0.0057	0.0014	0.0005	0.0098	0	3.45e-05	0.0074	0.0008	0.0021	0.0064	0.0011	0.0013	0.0013	0.0009	0.0051	0.0009	0.0008	0.0029	0.0022	0.0012	0	0.0006	0.0039	0	0	0	0.0011	0	0.0051	0.012	0.54683	D	0.122	0.35970	T	.	.	.	.	.	.	.	.	.	.	1	0.18612	N	.	.	.	1.31	0.35405	T	0.9	0.01787	N	0.056	0.02759	-1.0196	0.23845	T	0.047	0.20235	T	7	0.0064422786	0.00146	T	0.002581	0.05206	T	0.007	0.00512	.	.	0.0138822411134	0.00435	0.004172141456176176	0.00391	.	.	0.549387454987	0.45772	T	.	.	.	-0.287244	0.09915	T	-0.650382	0.08927	T	0.00760233881679783	0.00088	T	0.528347	0.17454	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.33732	B	.;.	.;.	2.089554	0.26580	17.17	0.83398739857595916	0.14704	0.00137	0.00841	N	AEFI	0.045525	0.07454	N	-1.25857930923118	0.04188	0.1885301	-1.38017546312345	0.03463	0.1616229	3.49615975115454E-5	0.03775	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-0.111000	0.10778	0.000000	0.13247	0.086000	0.17587	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	2.0E-4:0.0:0.9998:0.0	6.707	0.22443	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2367.19	193	chr3	195779431	.	G	*,T	2367.19	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=-4.960e-01;DP=4177;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.82;MQRankSum=-1.595e+01;QD=1.14;ReadPosRankSum=6.18;SOR=0.650	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0,0:35:99:.:.:0,99,1485,99,1485,1485	13	2	4	1
chr3	195779444	195779444	T	0	exonic	MUC4	.	.	.	.	.	6	161	4	0	55	59	0.0122699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	7517.42	193	chr3	195779444	.	T	*,C	7517.42	.	AC=8,2;AF=0.200,0.050;AN=40;BaseQRankSum=2.08;DP=4116;ExcessHet=0.0120;FS=0.515;InbreedingCoeff=0.4558;MLEAC=8,2;MLEAF=0.200,0.050;MQ=56.17;MQRankSum=-1.262e+01;QD=3.54;ReadPosRankSum=3.57;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:3,0,0:3:9:0|1:195779435_GAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAC_G:0,9,114,9,114,114:195779435	13	2	3	1
chr3	195779444	195779444	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A12136G:p.T4046A	.	.	504	767	103	128	20	379	0.189646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	B	0.039	B	0.380	N	1.000	N	0.55	N	1.64	T	-1.044	T	0.031	T	0.04	0.334	5.814	0.613	0.522	0.338	3.482	0.013	.	.	0.112021	0.0077	0.0014	0.0112	0.0580	0.0013	0.0092	0	0.0064	0.0053557	828	154602	rs62282465	0.0047	0.0064	0.0042	0.0052	0.0253	0.0046	0.0045	0.0229	0.0220	0.0027	0.0042	0.0154	0.0253	0.0049	0.0090	0.0034	0.0065	0.0109	0.0014	0.0045	0.0013	0.0016	0.0029	0.0011	0.0010	0.0022	0.0020	0.0029	0	0.0012	0	0.0011	0.0009	0	0.0006	0.0020	0	0.626	0.05214	T	0.108	0.37730	T	.	.	.	.	.	.	0.380396	0.13397	N	0.326178	1	0.08975	N	.	.	.	1.55	0.29866	T	-0.58	0.23156	N	0.034	0.01421	-1.0441	0.16089	T	0.031	0.13504	T	9	0.0028693974	0.00046	T	.	.	.	0.013	0.01715	.	.	0.0138822411134	0.00435	0.0021228600466568154	0.00196	.	.	0.553730368614	0.46383	T	.	.	.	-0.697436	0.00038	T	-0.745319	0.03671	T	0.00237689495200028	0.00025	T	0.49795	0.15494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.04889	B	.;.	.;.	0.837442	0.12093	8.643	0.76492952725263341	0.11490	0.00494	0.02336	N	AEFI	0.061456	0.11751	N	-1.04182487498206	0.07748	0.3609991	-1.16911237340214	0.06431	0.3095628	1.23786745538616E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	0.613	0.613	0.16773	-0.356000	0.07711	-0.898000	0.07002	0.085000	0.17582	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	1.0E-4:0.0:0.427:0.5729	3.482	0.07171	601	0.67921	.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.225	7517.42	193	chr3	195779444	.	T	*,C	7517.42	.	AC=8,2;AF=0.200,0.050;AN=40;BaseQRankSum=2.08;DP=4116;ExcessHet=0.0120;FS=0.515;InbreedingCoeff=0.4558;MLEAC=8,2;MLEAF=0.200,0.050;MQ=56.17;MQRankSum=-1.262e+01;QD=3.54;ReadPosRankSum=3.57;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:3,0,0:3:9:0|1:195779435_GAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAC_G:0,9,114,9,114,114:195779435	13	2	3	1
chr3	195779447	195779447	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	7448.07	193	chr3	195779447	.	C	G,*	7448.07	.	AC=3,8;AF=0.075,0.200;AN=40;BaseQRankSum=1.25;DP=4112;ExcessHet=0.0419;FS=0.515;InbreedingCoeff=0.3622;MLEAC=3,8;MLEAF=0.075,0.200;MQ=55.88;MQRankSum=1.93;QD=3.49;ReadPosRankSum=2.57;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:3,0,0:3:9:0|1:195779435_GAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAC_G:0,9,114,9,114,114:195779435	12	0	2	1
chr3	195779467	195779467	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12113T:p.T4038I	.	.	489	991	27	9	6	51	0.0222003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	B	0.008	B	0.612	U	1.000	N	0.345	N	1.35	T	-1.010	T	0.045	T	0.055	-0.968	0.311	0.613	0.625	.	7.140	0.016	.	.	0.00559105	0.0014	0.0018	0	0.0541	0	0	0.0056	0.0005	0.0004075	63	154602	rs547189907	0.0015	0.0045	0.0014	0.0016	0.0097	0.0014	0.0014	0.0086	0.0082	0.0012	0.0038	0.0036	0.0097	0.0019	0	0.0011	0.0027	0.0018	0.0006	0.0066	0.0007	0.0006	0.0012	0.0005	0.0005	0.0004	0.0004	0.0007	0.0022	0.0002	0.0007	0.0006	0.0018	0	0.0005	0	0.0012	0.172	0.22660	T	0.035	0.52389	D	.	.	.	.	.	.	0.612157	0.10856	U	0.442567	1	0.08975	N	.	.	.	1.35	0.35405	T	-0.95	0.25332	N	0.047	0.07811	-1.0103	0.26823	T	0.045	0.19152	T	9	0.005048692	0.00109	T	.	.	.	0.016	0.02506	0.155	0.05858	0.0138822411134	0.00435	0.001401808682157997	0.00129	.	.	0.539510130882	0.44377	T	.	.	.	-0.302753	0.08403	T	-0.67266	0.07439	T	0.00595385338034555	0.00065	T	0.759324	0.38363	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.38977	B	.;.	.;.	1.228466	0.16229	12.40	0.20074522284626742	0.00706	0.00279	0.01508	N	AEFI	0.053462	0.09634	N	-1.18517779585514	0.05224	0.2376333	-1.27035857702595	0.04837	0.2291049	1.20437607759513E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	0.613	0.613	0.16773	0.461000	0.21651	-0.387000	0.09501	0.174000	0.17776	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	1.0E-4:0.0:0.9999:0.0	7.140	0.24729	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.0625	91.98	193	chr3	195779467	.	G	A	91.98	.	AC=2;AF=0.063;AN=32;DP=3685;ExcessHet=0.0000;FS=2.783;InbreedingCoeff=0.4955;MLEAC=1;MLEAF=0.031;MQ=45.49;QD=30.66;SOR=0.851	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,3:3:9:1|1:195779435_GAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAC_G:112,9,0:195779435	15	1	0	5
chr3	195779507	195779554	CTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTAGATA	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.12026_12073del:p.V4009_S4024del	.	.	467	1038	5	5	7	22	0.0071736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0026	0.0028	0	0	0.0005	0	0.0011	.	.	.	.	0.0024	0.0054	0.0025	0.0024	0.0067	0.0023	0.0023	0.0046	0.0039	0.0006	0.0034	0.0027	0.0003	0.0012	0.0067	0.0025	0.0025	0.0020	0.0003	0.0006	0.0002	0.0004	0.0011	0.0002	0.0002	0.0004	0.0003	8.399e-05	0	0.0008	0	0	0	0	0.0003	0.0016	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	7119.34	193	chr3	195779506	.	GCTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTAGATA	G	7119.34	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.500;DP=3348;ExcessHet=0.0000;FS=2.307;InbreedingCoeff=-0.0558;MLEAC=1;MLEAF=0.028;MQ=53.41;MQRankSum=5.07;QD=20.46;ReadPosRankSum=2.42;SOR=0.566	GT:AD:DP:GQ:PL	./.	17	0	1	3
chr3	195779779	195779779	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C11801T:p.A3934V,	.	.	600	874	3	9	36	57	0.0118711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	B	0.0	B	.	.	0.974	N	0.55	N	1.42	T	-1.015	T	0.043	T	0.063	0.664	7.557	.	-0.535	0.207	.	0.018	0.00327910076655	.	.	6.677e-05	0	0	0	0.0009	0	0	0	.	.	.	rs112027608	0.0007	0.0022	0.0006	0.0008	0.0028	0.0007	0.0006	0.0022	0.0020	0.0002	0.0003	0.0014	0.0028	0.0041	0.0003	0.0005	0.0009	0.0006	5.906e-05	0.0003	0.0001	0	9.035e-05	2.326e-05	1.453e-05	1.979e-05	1.048e-05	9.035e-05	0	0	0	0	0	0	7.465e-05	0	0	0.423	0.09746	T	0.393	0.15746	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.25515	N	.	.	.	1.33	0.35031	T	-0.53	0.16393	N	0.035	0.01999	-1.0151	0.25304	T	0.043	0.18576	T	6	0.029459447	0.01072	T	0.003279	0.07268	T	0.018	0.03083	0.205	0.12076	0.0138822411134	0.00435	0.0017600896857898872	0.00163	.	.	0.509031713009	0.40087	T	.	.	.	-0.324223	0.06558	T	-0.703501	0.05636	T	0.0235782377466411	0.01093	T	0.686031	0.29438	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.25331	B	.;.	.;.	0.060896	0.04720	1.352	0.93910929547238409	0.23946	0.00624	0.02752	N	AEFBI	0.059095	0.11135	N	-1.3016471889903	0.03657	0.1637367	-1.42224578363642	0.03030	0.1405921	1.54978405088282E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	1.321000	0.33283	0.221000	0.16075	0.178000	0.17791	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	.	.	.	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.03333	99.5	193	chr3	195779779	.	G	A	99.5	.	AC=1;AF=0.033;AN=30;BaseQRankSum=1.15;DP=3665;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.1084;MLEAC=1;MLEAF=0.033;MQ=37.54;MQRankSum=1.29;QD=12.44;ReadPosRankSum=0.319;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:17,0:17:0:.:.:0,0,166	14	0	1	6
chr3	195779882	195779882	G	0	exonic	MUC4	.	.	.	.	.	827	38	93	396	168	1053	0.920916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8462	75722.94	215	chr3	195779882	.	G	C,*	75722.94	.	AC=18,8;AF=0.692,0.308;AN=26;BaseQRankSum=0.967;DP=4540;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5960;MLEAC=26,12;MLEAF=1.00,0.462;MQ=59.69;MQRankSum=-2.320e-01;QD=23.33;ReadPosRankSum=-5.600e-02;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:90,0,0:90:0:.:.:0,0,0,0,0,0	0	7	0	8
chr3	195780043	195780043	G	0	exonic	MUC4	.	.	.	.	.	6	91	2	1	126	130	0.0215054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	3773.39	467	chr3	195780043	.	G	A,*	3773.39	.	AC=1,10;AF=0.036,0.357;AN=28;DP=6744;ExcessHet=0.5777;FS=0.000;InbreedingCoeff=-0.0638;MLEAC=1,13;MLEAF=0.036,0.464;MQ=57.07;QD=1.27;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:8,0,169:177:99:1|1:195780016_ATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG_A:7294,7318,7523,346,551,0:195780016	5	0	1	7
chr3	195780046	195780046	A	0	exonic	MUC4	.	.	.	.	.	13	85	2	1	125	129	0.0229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	3773.39	467	chr3	195780046	.	A	C,*	3773.39	.	AC=1,10;AF=0.036,0.357;AN=28;DP=6719;ExcessHet=0.5777;FS=0.000;InbreedingCoeff=-0.0638;MLEAC=1,13;MLEAF=0.036,0.464;MQ=56.80;QD=1.27;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:8,0,169:177:99:1|1:195780016_ATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG_A:7294,7318,7523,346,551,0:195780016	5	0	1	7
chr3	195780069	195780069	G	0	exonic	MUC4	.	.	.	.	.	10	98	2	0	116	118	0.010101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3462	2997.68	313	chr3	195780069	.	G	C,*	2997.68	.	AC=1,8;AF=0.038,0.308;AN=26;DP=6315;ExcessHet=0.1204;FS=0.000;InbreedingCoeff=0.0503;MLEAC=1,11;MLEAF=0.038,0.423;MQ=56.31;QD=1.57;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:8,0,169:177:99:1|1:195780016_ATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG_A:7294,7318,7523,346,551,0:195780016	6	0	1	8
chr3	195780075	195780075	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2647	1468.72	313	chr3	195780075	.	T	G,*	1468.72	.	AC=1,8;AF=0.029,0.235;AN=34;DP=6273;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.1606;MLEAC=1,9;MLEAF=0.029,0.265;MQ=56.27;QD=0.77;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:8,0,169:177:99:1|1:195780016_ATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG_A:7294,7318,7523,346,551,0:195780016	10	0	1	4
chr3	195780092	195780092	C	0	exonic	MUC4	.	.	.	.	.	13	97	2	0	114	116	0.0102041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	3139.55	313	chr3	195780092	.	C	T,*	3139.55	.	AC=1,7;AF=0.042,0.292;AN=24;DP=6174;ExcessHet=0.0419;FS=4.756;InbreedingCoeff=0.0684;MLEAC=1,10;MLEAF=0.042,0.417;MQ=55.82;QD=2.32;SOR=0.437	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:8,0,169:177:99:1|1:195780016_ATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG_A:7294,7318,7523,346,551,0:195780016	6	0	1	9
chr3	195780215	195780215	C	0	exonic	MUC4	.	.	.	.	.	2	157	43	0	24	67	0.120448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1389	424.47	497	chr3	195780215	.	C	G,*	424.47	.	AC=1,5;AF=0.028,0.139;AN=36;BaseQRankSum=-2.227e+00;DP=10160;ExcessHet=0.1217;FS=18.125;InbreedingCoeff=0.1067;MLEAC=1,6;MLEAF=0.028,0.167;MQ=54.84;MQRankSum=-1.380e+00;QD=0.31;ReadPosRankSum=-1.645e+00;SOR=1.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:448,0,0:448:99:.:.:0,120,1800,120,1800,1800	13	0	0	3
chr3	195780494	195780494	G	0	exonic	MUC4	.	.	.	.	.	694	424	90	25	289	429	0.1417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	5548.65	401	chr3	195780494	.	G	*,A	5548.65	.	AC=7,1;AF=0.350,0.050;AN=20;BaseQRankSum=5.01;DP=8569;ExcessHet=1.8394;FS=1.262;InbreedingCoeff=0.0278;MLEAC=12,2;MLEAF=0.600,0.100;MQ=54.69;MQRankSum=-3.824e+00;QD=1.83;ReadPosRankSum=9.34;SOR=0.574	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:570,0,0:570:0:.:.:0,0,0,0,0,0	3	1	5	11
chr3	195780499	195780499	G	0	exonic	MUC4	.	.	.	.	.	0	114	53	2	57	114	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	55203.73	406	chr3	195780499	.	G	A,*	55203.73	.	AC=12,7;AF=0.300,0.175;AN=40;BaseQRankSum=-3.310e-01;DP=8546;ExcessHet=0.5442;FS=0.529;InbreedingCoeff=0.0726;MLEAC=12,7;MLEAF=0.300,0.175;MQ=54.22;MQRankSum=-2.440e-01;QD=9.13;ReadPosRankSum=-4.044e+00;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:7,345,0:352:99:1|1:195780452_T_C:12944,499,0,9006,1445,11233:195780452	6	1	7	1
chr3	195780501	195780501	C	0	exonic	MUC4	.	.	.	.	.	741	294	218	40	229	527	0.336343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4667	51505.37	393	chr3	195780501	.	C	*,G	51505.37	.	AC=7,10;AF=0.233,0.333;AN=30;BaseQRankSum=-5.880e-01;DP=8384;ExcessHet=0.9330;FS=0.000;InbreedingCoeff=0.1350;MLEAC=9,13;MLEAF=0.300,0.433;MQ=54.00;MQRankSum=-3.340e-01;QD=9.32;ReadPosRankSum=-1.345e+00;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:7,0,581:588:99:.:.:24781,19077,18370,1453,1738,0	3	1	2	6
chr3	195780510	195780510	G	0	exonic	MUC4	.	.	.	.	.	1	126	41	1	57	100	0.145763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	36875.28	349	chr3	195780510	.	G	A,*	36875.28	.	AC=9,5;AF=0.265,0.147;AN=34;BaseQRankSum=0.680;DP=8180;ExcessHet=0.1645;FS=1.137;InbreedingCoeff=0.2695;MLEAC=11,6;MLEAF=0.324,0.176;MQ=53.29;MQRankSum=3.36;QD=8.07;ReadPosRankSum=-2.570e+00;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:10,306,0:316:99:1|1:195780452_T_C:11025,246,0,7025,1371,9643:195780452	7	2	3	4
chr3	195780514	195780514	G	0	exonic	MUC4	.	.	.	.	.	30	98	40	1	57	99	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	22106.14	349	chr3	195780514	.	G	*,A	22106.14	.	AC=7,7;AF=0.233,0.233;AN=30;BaseQRankSum=0.605;DP=8615;ExcessHet=0.3357;FS=1.883;InbreedingCoeff=0.2178;MLEAC=9,9;MLEAF=0.300,0.300;MQ=53.69;MQRankSum=2.63;QD=4.78;ReadPosRankSum=-2.700e+00;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:10,0,297:307:99:1|1:195780452_T_C:10795,6805,9495,299,1440,0:195780452	5	1	3	6
chr3	195780525	195780527	GTC	0	exonic	MUC4	.	.	.	.	.	583	681	21	3	234	261	0.0194384	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	5946.85	349	chr3	195780525	.	GTC	*,G	5946.85	.	AC=9,2;AF=0.321,0.071;AN=28;BaseQRankSum=-5.320e-01;DP=7947;ExcessHet=0.0073;FS=2.130;InbreedingCoeff=0.4634;MLEAC=13,3;MLEAF=0.464,0.107;MQ=52.96;MQRankSum=5.01;QD=1.90;ReadPosRankSum=1.98;SOR=0.532	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:13,0,281:294:99:1|1:195780452_T_C:9929,5964,8827,119,1407,0:195780452	7	3	3	7
chr3	195780526	195780529	TCCG	0	exonic	MUC4	.	.	.	.	.	603	642	21	1	255	278	0.0175976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	5700.23	349	chr3	195780526	.	TCCG	*,T	5700.23	.	AC=11,1;AF=0.423,0.038;AN=26;BaseQRankSum=2.59;DP=7969;ExcessHet=0.0661;FS=2.096;InbreedingCoeff=0.3651;MLEAC=16,1;MLEAF=0.615,0.038;MQ=52.99;MQRankSum=5.89;QD=1.65;ReadPosRankSum=2.36;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:14,281,0:295:99:1|1:195780526_TCCG_*:23389,1226,0,11752,754,11186:195780526	5	4	3	8
chr3	195780530	195780623	TGACAGGAAGACGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGCGTC	0	exonic	MUC4	.	.	.	.	.	570	703	20	0	229	249	0.0140252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	5271.15	349	chr3	195780530	.	TGACAGGAAGACGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGCGTC	T,*	5271.15	.	AC=1,3;AF=0.056,0.167;AN=18;BaseQRankSum=3.31;DP=7644;ExcessHet=1.8123;FS=1.101;InbreedingCoeff=0.1822;MLEAC=2,6;MLEAF=0.111,0.333;MQ=52.75;MQRankSum=-3.954e+00;QD=2.95;ReadPosRankSum=-3.480e+00;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:532,0,0:532:0:.:.:0,0,0,0,0,0	5	0	1	12
chr3	195780562	195780562	G	0	exonic	MUC4	.	.	.	.	.	634	632	242	5	9	261	0.166227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	950.16	349	chr3	195780562	.	G	*,A	950.16	.	AC=4,1;AF=0.250,0.063;AN=16;BaseQRankSum=-1.598e+00;DP=7247;ExcessHet=2.8389;FS=0.524;InbreedingCoeff=0.0278;MLEAC=8,2;MLEAF=0.500,0.125;MQ=52.35;MQRankSum=5.43;QD=0.47;ReadPosRankSum=4.24;SOR=0.633	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:532,0,0:532:0:.:.:0,0,0,0,0,0	3	0	4	13
chr3	195780575	195780575	C	0	exonic	MUC4	.	.	.	.	.	839	407	22	0	254	276	0.0263158	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	12264.56	349	chr3	195780575	.	C	*,T	12264.56	.	AC=6,1;AF=0.300,0.050;AN=20;BaseQRankSum=0.071;DP=7349;ExcessHet=6.0611;FS=0.558;InbreedingCoeff=-0.0832;MLEAC=10,2;MLEAF=0.500,0.100;MQ=51.21;MQRankSum=8.32;QD=3.68;ReadPosRankSum=3.24;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:532,0,0:532:0:.:.:0,0,0,0,0,0	3	0	6	11
chr3	195780583	195780583	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C10997T:p.P3666L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	B	0.002	B	.	.	1.000	N	0	N	1.57	T	-0.988	T	0.032	T	0.104	0.265	5.434	0.743	0.088	1.518	6.905	0.022	0.000701446879571	.	.	0.0024	0	0	0	0	0	0	0.0049	0.0001617	25	154602	rs767764512	0.0001	8.518e-05	7.656e-05	0.0001	0.0013	8.864e-05	8.166e-05	0.0010	0.0009	0.0001	0	0	8.872e-05	0	0.0005	3.457e-05	6.574e-05	0.0013	9.867e-05	0.0002	5.089e-05	0.0001	0.0020	3.299e-05	1.948e-05	0.0004	0.0002	0.0001	0	0	0	0	0	0	5.043e-05	0	0.0020	0.016	0.51853	D	0.187	0.28860	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.57	0.30133	T	-1.03	0.27052	N	0.107	0.09207	-0.9884	0.33002	T	0.032	0.13898	T	8	0.0077109635	0.00175	T	7.01E-4	0.00435	T	0.022	0.04323	.	.	0.0920862733494	0.08535	0.004806063485625643	0.00452	.	.	0.490108907223	0.37453	T	.	.	.	-0.321772	0.06753	T	-0.699979	0.05827	T	0.00728160681488316	0.00083	T	0.753225	0.37546	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.21390	B	.;.	.;.	2.001965	0.25439	16.76	0.73253195466699128	0.10261	0.00307	0.01628	N	AEFBI	0.057882	0.10819	N	-1.2268818149776	0.04613	0.2085847	-1.29709374232406	0.04470	0.2109179	1.33794269631254E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.743	0.743	0.17496	-0.528000	0.06280	-0.833000	0.07248	0.187000	0.17834	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0E-4:0.0:0.9999:0.0	6.905	0.23486	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	1811.04	349	chr3	195780583	.	G	A,*	1811.04	.	AC=1,2;AF=0.063,0.125;AN=16;BaseQRankSum=4.18;DP=7369;ExcessHet=0.9691;FS=1.814;InbreedingCoeff=0.2533;MLEAC=2,4;MLEAF=0.125,0.250;MQ=50.12;MQRankSum=5.62;QD=1.39;ReadPosRankSum=1.68;SOR=0.537	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:532,0,0:532:0:.:.:0,0,0,0,0,0	5	0	1	13
chr3	195780583	195780583	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	1811.04	349	chr3	195780583	.	G	A,*	1811.04	.	AC=1,2;AF=0.063,0.125;AN=16;BaseQRankSum=4.18;DP=7369;ExcessHet=0.9691;FS=1.814;InbreedingCoeff=0.2533;MLEAC=2,4;MLEAF=0.125,0.250;MQ=50.12;MQRankSum=5.62;QD=1.39;ReadPosRankSum=1.68;SOR=0.537	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:532,0,0:532:0:.:.:0,0,0,0,0,0	5	0	1	13
chr3	195780604	195780604	G	0	exonic	MUC4	.	.	.	.	.	455	714	336	0	17	353	0.190476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	49349.11	404	chr3	195780604	.	G	C,*	49349.11	.	AC=12,1;AF=0.333,0.028;AN=36;BaseQRankSum=1.02;DP=8148;ExcessHet=12.7758;FS=0.000;InbreedingCoeff=-0.5385;MLEAC=13,1;MLEAF=0.361,0.028;MQ=49.37;MQRankSum=2.50;QD=8.15;ReadPosRankSum=-1.380e-01;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:443,151,0:594:99:.:.:3075,0,15550,4650,13177,18234	5	0	12	3
chr3	195780620	195780620	C	0	exonic	MUC4	.	.	.	.	.	808	314	377	7	16	407	0.38371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	185617.17	454	chr3	195780620	.	C	T,*	185617.17	.	AC=14,1;AF=0.389,0.028;AN=36;BaseQRankSum=7.26;DP=8709;ExcessHet=23.1855;FS=1.891;InbreedingCoeff=-0.6027;MLEAC=16,1;MLEAF=0.444,0.028;MQ=48.79;MQRankSum=6.09;QD=25.34;ReadPosRankSum=-4.997e+00;SOR=0.543	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,510,0:614:99:1|0:195780526_TCCG_*:20193,0,2671,16913,4201,20463:195780526	3	0	14	3
chr3	195780623	195780623	C	0	exonic	MUC4	.	.	.	.	.	801	322	379	4	16	403	0.375364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	180902.17	451	chr3	195780623	.	C	T,*	180902.17	.	AC=14,1;AF=0.389,0.028;AN=36;BaseQRankSum=7.87;DP=8655;ExcessHet=23.1855;FS=2.624;InbreedingCoeff=-0.6027;MLEAC=16,1;MLEAF=0.444,0.028;MQ=48.54;MQRankSum=5.61;QD=25.01;ReadPosRankSum=-4.462e+00;SOR=0.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,505,0:610:99:1|0:195780526_TCCG_*:20098,0,2700,16847,4235,20481:195780526	3	0	14	3
chr3	195781112	195781159	GAAGAGGGGTGGTGTGACCTGTAGATGCTGAGGAAGGGCTGGTGACAG	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.10421_10468del:p.P3474_L3489del	.	.	437	1059	15	0	11	26	0.00703235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0008	0	0	0	0.0039	0.0083	0.0017	7.68e-05	2	26028	.	0.0031	0.0030	0.0031	0.0030	0.0035	0.0030	0.0029	0.0034	0.0034	0.0011	0.0007	4.82e-05	3.482e-05	0.0008	0.0009	0.0035	0.0032	0.0016	0.0052	0.0053	0.0058	0.0047	0.0078	0.0047	0.0044	0.0068	0.0065	0.0034	0	0.0022	0	0.0014	0.0009	0	0.0078	0.0036	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	5897.3	484	chr3	195781111	.	TGAAGAGGGGTGGTGTGACCTGTAGATGCTGAGGAAGGGCTGGTGACAG	T	5897.3	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.03;DP=8549;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=59.46;MQRankSum=-7.539e+00;QD=12.01;ReadPosRankSum=0.546;SOR=0.647	GT:AD:DP:GQ:PL	0/0:368,0:368:99:0,120,1800	19	0	1	1
chr3	195781134	195781134	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	33200.29	498	chr3	195781134	.	A	G,*	33200.29	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=6.18;DP=8525;ExcessHet=15.6281;FS=5.345;InbreedingCoeff=-0.5385;MLEAC=14,1;MLEAF=0.350,0.025;MQ=57.71;MQRankSum=-1.307e+01;QD=5.24;ReadPosRankSum=-7.680e-01;SOR=1.207	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:285,88,0:373:99:0|1:195781128_A_T:2713,0,11366,3570,11631,15201:195781128	6	0	13	1
chr3	195781149	195781154	GCTGGT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.10426_10431del:p.T3476_S3477del	.	.	429	865	216	1	11	229	0.11191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0145	0	0	0.0029	0	0	0	0.0351	3.84e-05	1	26028	.	0.0025	0.0021	0.0015	0.0035	0.0389	0.0024	0.0023	0.0375	0.0369	0.0001	4.844e-05	0	7.76e-05	5.404e-05	0.0012	0.0002	0.0034	0.0389	0.0031	0.0027	0.0012	0.0050	0.0817	0.0026	0.0025	0.0699	0.0654	0.0003	0	0	0	0	0	0	0.0002	0.0017	0.0817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	3997.56	481	chr3	195781148	.	GGCTGGT	G,*	3997.56	.	AC=1,12;AF=0.026,0.316;AN=38;BaseQRankSum=5.06;DP=8191;ExcessHet=12.7758;FS=8.141;InbreedingCoeff=-0.5094;MLEAC=1,13;MLEAF=0.026,0.342;MQ=56.16;MQRankSum=-1.509e+01;QD=0.72;ReadPosRankSum=-2.317e+00;SOR=1.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:288,0,72:360:99:0|1:195781128_A_T:2157,3023,14899,0,11876,11659:195781128	6	0	1	2
chr3	195781148	195781154	GGCTGGT	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	3997.56	481	chr3	195781148	.	GGCTGGT	G,*	3997.56	.	AC=1,12;AF=0.026,0.316;AN=38;BaseQRankSum=5.06;DP=8191;ExcessHet=12.7758;FS=8.141;InbreedingCoeff=-0.5094;MLEAC=1,13;MLEAF=0.026,0.342;MQ=56.16;MQRankSum=-1.509e+01;QD=0.72;ReadPosRankSum=-2.317e+00;SOR=1.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:288,0,72:360:99:0|1:195781128_A_T:2157,3023,14899,0,11876,11659:195781128	6	0	1	2
chr3	195781150	195781150	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	17655.6	472	chr3	195781150	.	C	CAT,*	17655.6	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=6.87;DP=8110;ExcessHet=11.8493;FS=8.427;InbreedingCoeff=-0.4911;MLEAC=13,1;MLEAF=0.325,0.025;MQ=57.14;MQRankSum=-1.618e+01;QD=3.26;ReadPosRankSum=-2.268e+00;SOR=1.431	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:283,68,0:351:99:0|1:195781128_A_T:1986,0,11461,2838,11666,14504:195781128	7	0	12	1
chr3	195781157	195781246	CAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTAGATGCTGAGGAAGTGC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.10334_10423del:p.S3445_V3475delinsI	.	.	423	1077	14	1	7	23	0.00737327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0106	0	0	0.0015	0	0	0	0.0308	3.84e-05	1	26028	.	0.0007	0.0016	0.0004	0.0009	0.0108	0.0006	0.0006	0.0102	0.0100	0	0	0	2.997e-05	0	0.0005	4.8e-05	0.0007	0.0108	0.0007	0.0009	0.0003	0.0012	0.0217	0.0006	0.0006	0.0183	0.0170	8.556e-05	0	0	0	0	0	0	1.519e-05	0.0005	0.0217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5859.2	431	chr3	195781156	.	ACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTAGATGCTGAGGAAGTGC	A,*	5859.2	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.334;DP=8293;ExcessHet=0.1072;FS=0.593;InbreedingCoeff=-0.0584;MLEAC=1,1;MLEAF=0.024,0.024;MQ=56.18;MQRankSum=2.96;QD=4.09;ReadPosRankSum=1.72;SOR=0.747	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:335,0,0:335:99:.:.:0,120,1800,120,1800,1800	19	0	1	0
chr3	195781156	195781246	ACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTAGATGCTGAGGAAGTGC	0	exonic	MUC4	.	.	.	.	.	423	1077	14	1	7	23	0.00737327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5859.2	431	chr3	195781156	.	ACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTAGATGCTGAGGAAGTGC	A,*	5859.2	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.334;DP=8293;ExcessHet=0.1072;FS=0.593;InbreedingCoeff=-0.0584;MLEAC=1,1;MLEAF=0.024,0.024;MQ=56.18;MQRankSum=2.96;QD=4.09;ReadPosRankSum=1.72;SOR=0.747	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:335,0,0:335:99:.:.:0,120,1800,120,1800,1800	19	0	1	0
chr3	195781220	195781220	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	54979.33	431	chr3	195781220	.	T	C,*	54979.33	.	AC=9,1;AF=0.250,0.028;AN=36;BaseQRankSum=-1.386e+00;DP=9310;ExcessHet=0.2410;FS=0.000;InbreedingCoeff=0.1444;MLEAC=10,1;MLEAF=0.278,0.028;MQ=59.26;MQRankSum=4.32;QD=12.97;ReadPosRankSum=0.556;SOR=0.710	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:546,0,0:546:0:.:.:0,0,10727,0,10727,10727	10	2	5	3
chr3	195781230	195781230	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2409.01	431	chr3	195781230	.	A	G,*	2409.01	.	AC=1,1;AF=0.036,0.036;AN=28;BaseQRankSum=-8.100e-02;DP=8763;ExcessHet=0.1128;FS=2.971;InbreedingCoeff=-0.0370;MLEAC=1,1;MLEAF=0.036,0.036;MQ=56.96;MQRankSum=3.37;QD=4.28;ReadPosRankSum=4.55;SOR=0.560	GT:AD:DP:GQ:PL	./.:523,0,0:523:0:0,0,2127,0,2127,2127	12	0	1	7
chr3	195781237	195781237	G	0	exonic	MUC4	.	.	.	.	.	457	758	281	0	26	307	0.156372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	57049.74	510	chr3	195781237	.	G	GAGGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATGCTA,*	57049.74	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=-8.550e-01;DP=9994;ExcessHet=6.1794;FS=2.732;InbreedingCoeff=-0.3292;MLEAC=13,1;MLEAF=0.325,0.025;MQ=57.80;MQRankSum=-1.148e+01;QD=9.95;ReadPosRankSum=-6.049e+00;SOR=0.922	GT:AD:DP:GQ:PL	0/1:224,187,0:411:99:6823,0,8343,7504,8905,16409	7	0	12	1
chr3	195781275	195781323	GGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCGTGACCT	0	exonic	MUC4	.	.	.	.	.	0	194	26	0	6	32	0.0628019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	12425.48	492	chr3	195781275	.	GGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCGTGACCT	G,*	12425.48	.	AC=2,3;AF=0.050,0.075;AN=40;BaseQRankSum=2.28;DP=10510;ExcessHet=1.1607;FS=0.000;InbreedingCoeff=-0.1570;MLEAC=2,3;MLEAF=0.050,0.075;MQ=58.75;MQRankSum=-3.642e+00;QD=4.35;ReadPosRankSum=0.454;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:395,0,0:395:99:.:.:0,120,1800,120,1800,1800	15	0	2	1
chr3	195781532	195781532	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A10048G:p.T3350A	.	.	431	1085	3	0	3	6	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	B	0.004	B	.	.	0.982	N	0	N	1.54	T	-1.008	T	0.027	T	0.036	0.412	6.240	-2.05	-0.835	-4.603	1.494	0.009	0.000725946276263	.	.	0.0010	0.0019	0	0	0	0.0007	0	0.0015	0.0001488	23	154602	rs867758585	0.0001	0.0012	0.0001	0.0001	0.0009	0.0001	0.0001	0.0006	0.0005	0.0009	0.0002	0.0006	2.991e-05	0	0	9.244e-05	0.0003	0.0005	0.0005	0.0018	0.0005	0.0004	0.0011	0.0004	0.0003	0.0008	0.0007	0.0011	0.0024	7.614e-05	0.0013	0.0005	0.0001	0	0.0002	0.0006	0.0005	0.314	0.13834	T	0.06	0.45961	T	.	.	.	.	.	.	.	.	.	.	1	0.24980	N	.	.	.	1.48	0.31731	T	-0.15	0.12283	N	0.019	0.01068	-1.0084	0.27416	T	0.027	0.11441	T	8	0.013838172	0.00292	T	7.26E-4	0.00472	T	0.009	0.00846	0.17	0.07536	0.0138822411134	0.00435	0.0021138951032212017	0.00195	.	.	0.448088556528	0.31683	T	.	.	.	-0.407904	0.02052	T	-0.823703	0.01379	T	0.0101871406395545	0.00138	T	0.451055	0.12757	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05060	B	.;.	.;.	-0.133928	0.03444	0.634	0.6098911255849867	0.06598	0.00081	0.00551	N	AEFBI	0.048871	0.08385	N	-1.53079940919829	0.01650	0.0721803	-1.63912756346584	0.01433	0.06479881	1.89733686392635E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.03	-2.05	0.06916	-5.582000	0.00134	-3.256000	0.02930	-1.846000	0.00576	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.3112:0.2552:0.0:0.4337	1.494	0.02314	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	992.33	461	chr3	195781532	.	T	C	992.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-9.880e-01;DP=9385;ExcessHet=0.0000;FS=25.929;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=59.31;MQRankSum=-1.424e+01;QD=1.41;ReadPosRankSum=-3.841e+00;SOR=2.533	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:348,0:348:99:.:.:0,120,1800	19	0	1	1
chr3	195781535	195781582	CGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.9998_10045del:p.S3333_D3349delinsN	.	.	432	1084	3	0	3	6	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0005	0	0.0037	0	0.0017	0	0.0003	.	.	.	rs773375978	4.072e-05	0.0059	4.243e-05	3.896e-05	0.0003	3.176e-05	2.88e-05	2.611e-05	2.317e-05	0	3.061e-05	0.0002	9.239e-05	0.0001	0.0003	3.566e-05	5.609e-05	0	0.0005	0.0035	0.0005	0.0005	0.0015	0.0004	0.0004	0.0007	0.0005	0.0002	0	0.0008	0.0009	0.0015	0.0006	0	0.0005	0.0016	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	5407.27	461	chr3	195781534	.	TCGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC	T	5407.27	.	AC=5;AF=0.125;AN=40;BaseQRankSum=3.69;DP=9800;ExcessHet=1.2264;FS=4.369;InbreedingCoeff=-0.1429;MLEAC=5;MLEAF=0.125;MQ=56.16;MQRankSum=-7.992e+00;QD=1.81;ReadPosRankSum=-4.233e+00;SOR=1.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:311,53:364:99:0|1:195781522_A_G:1070,0,12537:195781522	15	0	5	1
chr3	195781543	195781543	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C10037T:p.P3346L	.	.	434	1074	8	0	6	14	0.00371058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.972	D	.	.	0.977	N	0.55	N	1.53	T	-1.037	T	0.086	T	0.191	0.535	6.897	1.03	0.494	0.798	7.588	0.036	.	.	0.00698882	0.0008	0	0	0	0	0.0008	0	0.0012	0.0013447	35	26028	rs879761890	4.884e-05	0.0007	4.984e-05	4.781e-05	0.0004	3.831e-05	3.503e-05	0.0002	0.0002	0.0002	0	0.0001	0.0004	0	0	2.839e-05	0.0002	4.234e-05	0.0002	0.0010	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0001	0.0003	0.0011	0.0001	0.0009	0	0	0	0.0002	0	0.0002	0.665	0.31383	T	0.122	0.35840	T	.	.	.	.	.	.	.	.	.	.	1	0.25345	N	.	.	.	1.47	0.31987	T	-1.13	0.29933	N	0.131	0.12627	-1.0370	0.18233	T	0.086	0.33522	T	8	0.0051679015	0.00112	T	.	.	.	0.036	0.09122	.	.	0.218845423259	0.21516	0.0020738489350019015	0.00192	.	.	0.483528077602	0.36542	T	.	.	.	-0.243883	0.14857	T	-0.588097	0.13831	T	0.0705799747923548	0.08732	T	0.69863	0.30863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.17657	B	.;.	.;.	1.897897	0.24102	16.27	0.74117152090629812	0.10576	0.00893	0.03509	N	AEFBI	0.071891	0.14328	N	-0.569821765808249	0.19867	1.043086	-0.822359589483566	0.13954	0.726643	3.68951057704334E-5	0.03775	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.03	1.03	0.19161	0.680000	0.24986	0.730000	0.21079	0.093000	0.17603	0.024000	0.20007	0.004000	0.18990	0.012000	0.09680	0.0:0.0:1.0:0.0	7.588	0.27174	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.1579	471.15	461	chr3	195781543	.	G	A,*	471.15	.	AC=1,5;AF=0.026,0.132;AN=38;BaseQRankSum=4.39;DP=9702;ExcessHet=1.8958;FS=7.620;InbreedingCoeff=-0.1940;MLEAC=1,5;MLEAF=0.026,0.132;MQ=59.22;MQRankSum=-1.633e+01;QD=0.13;ReadPosRankSum=-4.132e+00;SOR=1.560	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:311,0,53:364:99:0|1:195781522_A_G:1070,2005,14701,0,12696,12537:195781522	13	0	1	2
chr3	195781543	195781543	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	471.15	461	chr3	195781543	.	G	A,*	471.15	.	AC=1,5;AF=0.026,0.132;AN=38;BaseQRankSum=4.39;DP=9702;ExcessHet=1.8958;FS=7.620;InbreedingCoeff=-0.1940;MLEAC=1,5;MLEAF=0.026,0.132;MQ=59.22;MQRankSum=-1.633e+01;QD=0.13;ReadPosRankSum=-4.132e+00;SOR=1.560	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:311,0,53:364:99:0|1:195781522_A_G:1070,2005,14701,0,12696,12537:195781522	13	0	1	2
chr3	195781545	195781545	C	0	exonic	MUC4	.	.	.	.	.	447	984	72	8	11	99	0.0428016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	214.85	461	chr3	195781545	.	C	*,A	214.85	.	AC=5,2;AF=0.132,0.053;AN=38;BaseQRankSum=0.229;DP=9525;ExcessHet=2.7391;FS=7.747;InbreedingCoeff=-0.2163;MLEAC=5,1;MLEAF=0.132,0.026;MQ=58.15;MQRankSum=-1.237e+01;QD=0.06;ReadPosRankSum=-2.465e+00;SOR=1.629	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:251,46,4:301:99:0|1:195781545_C_*:1061,0,10332,1662,10202,12093:195781545	12	0	5	2
chr3	195781547	195781547	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	199.21	461	chr3	195781547	.	C	G,*	199.21	.	AC=2,5;AF=0.056,0.139;AN=36;BaseQRankSum=-4.040e-01;DP=9369;ExcessHet=2.7391;FS=9.360;InbreedingCoeff=-0.2500;MLEAC=2,6;MLEAF=0.056,0.167;MQ=57.24;MQRankSum=-1.314e+01;QD=0.06;ReadPosRankSum=-4.481e+00;SOR=1.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:236,4,46:286:99:0|1:195781545_C_*:1106,1662,11641,0,9742,9771:195781545	11	0	2	3
chr3	195781570	195781666	GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	.	441	758	314	1	8	324	0.172489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	16107.51	556	chr3	195781570	.	GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	G,*	16107.51	.	AC=11,2;AF=0.306,0.056;AN=36;BaseQRankSum=2.83;DP=10262;ExcessHet=5.0857;FS=9.641;InbreedingCoeff=-0.3187;MLEAC=12,2;MLEAF=0.333,0.056;MQ=55.78;MQRankSum=-1.803e+00;QD=2.85;ReadPosRankSum=-4.685e+00;SOR=1.416	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:4,124,46:174:99:0|1:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:6686,1538,1286,5031,0,7159:195781570	6	0	10	3
chr3	195781578	195781579	AG	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	3970.88	556	chr3	195781578	.	AG	A,*	3970.88	.	AC=1,10;AF=0.031,0.313;AN=32;BaseQRankSum=3.87;DP=10171;ExcessHet=8.9063;FS=8.836;InbreedingCoeff=-0.4349;MLEAC=1,12;MLEAF=0.031,0.375;MQ=55.69;MQRankSum=-5.260e-01;QD=0.73;ReadPosRankSum=-6.913e+00;SOR=1.454	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:192,0,0:192:0:.:.:0,0,0,0,0,0	5	0	1	5
chr3	195781580	195781580	G	0	exonic	MUC4	.	.	.	.	.	463	722	319	1	17	338	0.18187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	4520.74	556	chr3	195781580	.	G	*,C	4520.74	.	AC=12,1;AF=0.333,0.028;AN=36;BaseQRankSum=0.179;DP=9815;ExcessHet=5.0857;FS=8.513;InbreedingCoeff=-0.3187;MLEAC=13,1;MLEAF=0.361,0.028;MQ=56.01;MQRankSum=-2.278e+00;QD=0.86;ReadPosRankSum=-1.693e+00;SOR=1.267	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,170,0:174:99:1|1:195781545_C_*:7426,484,0,7500,568,7934:195781545	6	1	10	3
chr3	195781580	195781580	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C10000G:p.P3334A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	B	0.02	B	.	.	1.000	N	0	N	1.6	T	-1.029	T	0.025	T	0.055	-2.642	0	-0.846	-1.978	-4.124	.	0.002	0.00306801804481	.	.	.	.	.	.	.	.	.	.	.	.	.	rs201933946	2.584e-05	3.087e-05	2.108e-05	3.081e-05	0.0009	1.477e-05	1.088e-05	0.0002	0.0001	0	0	0	0.0009	0	0	1.631e-05	5.502e-05	7.572e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.39	0.10838	T	0.225	0.25670	T	.	.	.	.	.	.	.	.	.	.	1	0.20745	N	.	.	.	1.6	0.29085	T	-0.92	0.25332	N	0.04	0.03613	-1.0294	0.20649	T	0.025	0.10866	T	7	0.049262732	0.04492	T	0.003068	0.06636	T	0.002	0.00045	0.155	0.05858	0.0138822411134	0.00435	7.891078168164878E-4	0.00072	.	.	0.422586500645	0.28193	T	.	.	.	-0.383899	0.02944	T	-0.789221	0.02186	T	0.0408006180140352	0.03836	T	0.581242	0.21054	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.01215	B	.;.	.;.	0.478526	0.08482	5.240	0.48788944872141277	0.04100	0.00070	0.00494	N	AEFBI	0.046739	0.07794	N	-1.9141490975778	0.00321	0.01379166	-2.02320338169732	0.00274	0.01206826	9.80237534810795E-4	0.08079	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.423	-0.846	0.10190	-0.579000	0.05927	-4.712000	0.02021	-2.820000	0.00180	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	4520.74	556	chr3	195781580	.	G	*,C	4520.74	.	AC=12,1;AF=0.333,0.028;AN=36;BaseQRankSum=0.179;DP=9815;ExcessHet=5.0857;FS=8.513;InbreedingCoeff=-0.3187;MLEAC=13,1;MLEAF=0.361,0.028;MQ=56.01;MQRankSum=-2.278e+00;QD=0.86;ReadPosRankSum=-1.693e+00;SOR=1.267	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,170,0:174:99:1|1:195781545_C_*:7426,484,0,7500,568,7934:195781545	6	1	10	3
chr3	195781581	195781581	G	0	exonic	MUC4	.	.	.	.	.	457	734	318	1	12	332	0.178971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	3967.27	556	chr3	195781581	.	G	T,*	3967.27	.	AC=1,9;AF=0.033,0.300;AN=30;BaseQRankSum=4.80;DP=9779;ExcessHet=6.9875;FS=11.398;InbreedingCoeff=-0.4055;MLEAC=1,11;MLEAF=0.033,0.367;MQ=55.48;MQRankSum=-3.960e-01;QD=0.82;ReadPosRankSum=-7.208e+00;SOR=1.457	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:165,0,0:165:0:.:.:0,0,0,0,0,0	5	0	1	6
chr3	195781583	195781583	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	13584.69	556	chr3	195781583	.	T	*,TGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTC,TC	13584.69	.	AC=8,2,1;AF=0.267,0.067,0.033;AN=30;BaseQRankSum=5.10;DP=9593;ExcessHet=2.8258;FS=8.879;InbreedingCoeff=-0.2455;MLEAC=10,2,1;MLEAF=0.333,0.067,0.033;MQ=56.45;MQRankSum=-1.210e-01;QD=3.10;ReadPosRankSum=-1.456e+00;SOR=1.309	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:165,0,0,0:165:0:.:.:0,0,0,0,0,0,0,0,0,0	5	0	7	6
chr3	195781591	195781591	T	0	exonic	MUC4	.	.	.	.	.	449	750	25	2	296	325	0.0189666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	3997.07	404	chr3	195781591	.	T	*,G,A	3997.07	.	AC=10,2,1;AF=0.294,0.059,0.029;AN=34;BaseQRankSum=2.81;DP=8640;ExcessHet=5.0857;FS=10.247;InbreedingCoeff=-0.3523;MLEAC=11,2,1;MLEAF=0.324,0.059,0.029;MQ=55.21;MQRankSum=-4.300e+00;QD=0.78;ReadPosRankSum=-4.302e+00;SOR=1.382	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:1,124,44,0:169:99:1|0:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:6797,1694,1360,5062,0,4980,6800,1734,5109,6843:195781570	5	0	9	4
chr3	195781604	195781604	-	GTGACCTGTGGATGCTGAGGAAGTGTCGGTGACATGAAGAGGGGTGGT	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.9975_9976insACCACCCCTCTTCATGTCACCGACACTTCCTCAGCATCCACAGGTCAC:p.H3325_A3326insTTPLHVTDTSSASTGH,	.	.	455	772	278	1	16	296	0.153509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0	0	0.0003	0	0.0008	.	.	.	.	0.0004	0.0003	0.0003	0.0004	0.0051	0.0003	0.0003	0.0029	0.0022	0	0.0027	0.0013	0	0	0.0051	0.0002	0.0007	0.0012	0.0004	0.0005	0.0003	0.0005	0.0010	0.0003	0.0002	0.0004	0.0003	5.202e-05	0	0.0010	0.0009	0	0	0	0.0005	0.0013	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	6595.46	368	chr3	195781604	.	C	T,CGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACATGAAGAGGGGTGGT,*	6595.46	.	AC=1,1,1;AF=0.056,0.056,0.056;AN=18;BaseQRankSum=5.02;DP=8353;ExcessHet=0.3672;FS=4.421;InbreedingCoeff=-0.1948;MLEAC=2,2,2;MLEAF=0.111,0.111,0.111;MQ=56.46;MQRankSum=-1.429e+00;QD=4.51;ReadPosRankSum=-3.433e+00;SOR=1.068	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:144,0,0,0:144:0:.:.:0,0,0,0,0,0,0,0,0,0	6	0	1	12
chr3	195781604	195781604	C	0	exonic	MUC4	.	.	.	.	.	455	772	278	1	16	296	0.153509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	6595.46	368	chr3	195781604	.	C	T,CGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACATGAAGAGGGGTGGT,*	6595.46	.	AC=1,1,1;AF=0.056,0.056,0.056;AN=18;BaseQRankSum=5.02;DP=8353;ExcessHet=0.3672;FS=4.421;InbreedingCoeff=-0.1948;MLEAC=2,2,2;MLEAF=0.111,0.111,0.111;MQ=56.46;MQRankSum=-1.429e+00;QD=4.51;ReadPosRankSum=-3.433e+00;SOR=1.068	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:144,0,0,0:144:0:.:.:0,0,0,0,0,0,0,0,0,0	6	0	1	12
chr3	195781605	195781605	G	0	exonic	MUC4	.	.	.	.	.	455	789	2	0	276	278	0.00126582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	635.74	381	chr3	195781605	.	G	*,C	635.74	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=5.00;DP=8538;ExcessHet=2.5338;FS=10.499;InbreedingCoeff=-0.2218;MLEAC=12,1;MLEAF=0.353,0.029;MQ=54.42;MQRankSum=-3.177e+00;QD=0.16;ReadPosRankSum=-4.833e+00;SOR=1.436	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:2,124,25:151:99:0|1:195781522_A_G:6030,933,642,5020,0,5037:195781522	7	0	9	4
chr3	195781605	195781605	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9975G:p.H3325Q,	.	.	455	789	2	0	276	278	0.00126582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	B	0.0	B	.	.	1.000	N	0	N	1.64	T	-0.994	T	0.028	T	0.045	0.133	4.714	-1.18	0.494	-0.453	3.491	0.026	0.000701924505054	.	.	0.0038	0.0092	0.0027	0.0065	0.0074	0.0033	0.0060	0.0021	0.0005757	89	154602	rs368202391	0.0002	0.0009	0.0002	0.0002	0.0019	0.0002	0.0002	0.0012	0.0009	0.0005	0.0002	0.0001	0.0019	0.0010	0.0008	0.0002	0.0002	0.0007	0.0015	0.0080	0.0013	0.0018	0.0040	0.0013	0.0013	0.0022	0.0017	0.0008	0	0.0024	0.0027	0.0040	0.0035	0	0.0012	0.0025	0.0038	0.359	0.11957	T	0.549	0.09457	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.64	0.28002	T	-0.58	0.20358	N	0.126	0.14054	-0.9936	0.31670	T	0.028	0.12103	T	8	0.0067867637	0.00154	T	7.02E-4	0.00435	T	0.026	0.05648	0.259	0.20159	0.0138822411134	0.00435	0.0013358041139753607	0.00123	.	.	0.487636059523	0.37111	T	.	.	.	-0.38784	0.02778	T	-0.794882	0.02034	T	0.00525087148980338	0.00057	T	0.549445	0.18903	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.24566	B	.;.	.;.	0.541304	0.09098	5.882	0.71700136203587272	0.09718	0.00069	0.00489	N	AEFBI	0.058666	0.11023	N	-1.28472862471283	0.03858	0.1731374	-1.36847136025834	0.03593	0.1679022	1.34692826708022E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.03	-1.18	0.09122	-0.199000	0.09493	-3.178000	0.02995	-1.076000	0.01581	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	0.0:0.0:0.5572:0.4428	3.491	0.07201	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	635.74	381	chr3	195781605	.	G	*,C	635.74	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=5.00;DP=8538;ExcessHet=2.5338;FS=10.499;InbreedingCoeff=-0.2218;MLEAC=12,1;MLEAF=0.353,0.029;MQ=54.42;MQRankSum=-3.177e+00;QD=0.16;ReadPosRankSum=-4.833e+00;SOR=1.436	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:2,124,25:151:99:0|1:195781522_A_G:6030,933,642,5020,0,5037:195781522	7	0	9	4
chr3	195781607	195781607	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	348.15	360	chr3	195781607	.	G	C,*	348.15	.	AC=1,1;AF=0.063,0.063;AN=16;BaseQRankSum=3.02;DP=8139;ExcessHet=0.1190;FS=7.268;InbreedingCoeff=-0.1703;MLEAC=2,2;MLEAF=0.125,0.125;MQ=54.49;MQRankSum=-2.322e+00;QD=0.31;ReadPosRankSum=-7.355e+00;SOR=1.458	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:141,0,0:141:0:.:.:0,0,0,0,0,0	6	0	1	13
chr3	195781618	195781666	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	.	469	535	446	20	52	538	0.312339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	64803.77	402	chr3	195781618	.	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	*,G	64803.77	.	AC=5,12;AF=0.147,0.353;AN=34;BaseQRankSum=0.785;DP=8138;ExcessHet=1.0760;FS=0.000;InbreedingCoeff=-0.0359;MLEAC=6,14;MLEAF=0.176,0.412;MQ=54.52;MQRankSum=-7.229e+00;QD=12.85;ReadPosRankSum=0.031;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:138,0,0:138:0:.:.:0,0,0,0,0,0	4	0	1	4
chr3	195781620	195781620	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	317.18	402	chr3	195781620	.	T	*,C	317.18	.	AC=15,3;AF=0.441,0.088;AN=34;BaseQRankSum=0.368;DP=7754;ExcessHet=0.4630;FS=2.515;InbreedingCoeff=0.0667;MLEAC=17,3;MLEAF=0.500,0.088;MQ=54.29;MQRankSum=-9.995e+00;QD=0.07;ReadPosRankSum=-1.613e+00;SOR=0.884	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:1,124,14:139:99:0|1:195781522_A_G:5644,546,215,5062,0,5070:195781522	4	2	8	4
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.725	58454.87	402	chr3	195781628	.	C	T,*	58454.87	.	AC=10,20;AF=0.250,0.500;AN=40;BaseQRankSum=2.39;DP=7718;ExcessHet=6.5132;FS=0.581;InbreedingCoeff=-0.3333;MLEAC=10,21;MLEAF=0.250,0.525;MQ=55.94;MQRankSum=-1.348e+00;QD=8.67;ReadPosRankSum=0.131;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,7,124:131:79:1|1:195781522_A_G:5474,5182,5170,373,79,0:195781522	0	3	3	1
chr3	195781639	195781639	A	0	exonic	MUC4	.	.	.	.	.	521	546	50	5	400	460	0.0520833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	8196.5	402	chr3	195781639	.	A	T,*	8196.5	.	AC=1,6;AF=0.056,0.333;AN=18;BaseQRankSum=-1.301e+00;DP=5813;ExcessHet=1.1475;FS=1.742;InbreedingCoeff=0.0793;MLEAC=2,11;MLEAF=0.111,0.611;MQ=56.14;MQRankSum=-9.244e+00;QD=3.89;ReadPosRankSum=-1.029e+00;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:124,0,0:124:0:.:.:0,0,0,0,0,0	3	0	1	12
chr3	195781645	195781645	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9935A:p.P3312H,	.	.	536	587	364	31	4	430	0.26625	.	.	2840494	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.969	D	0.707	P	.	.	1.000	N	0.55	N	1.5	T	-1.044	T	0.056	T	0.065	0.255	5.379	-1.49	0.088	-1.535	3.617	0.028	.	.	0.00299521	0.0087	0	0.0068	0	0	0.0099	0	0.0117	0.0005886	91	154602	rs62282476	0.0087	0.0069	0.0083	0.0092	0.0137	0.0085	0.0084	0.0125	0.0120	0.0016	0.0008	0.0433	0	0	0.0088	0.0087	0.0111	0.0137	0.0022	0.0024	0.0023	0.0022	0.0088	0.0019	0.0018	0.0058	0.0049	0.0004	0.0185	0.0008	0.0177	0	0	0	0.0030	0.0019	0.0088	0.001	0.78490	D	0.065	0.44905	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.5	0.31205	T	-0.55	0.21644	N	0.075	0.04913	-1.0436	0.16236	T	0.056	0.23488	T	8	0.0050420463	0.00109	T	.	.	.	0.028	0.06331	.	.	0.0401082797425	0.02173	0.006791750257993445	0.00646	.	.	0.461181938648	0.33473	T	.	.	.	-0.319438	0.06943	T	-0.696627	0.06012	T	0.0200654981272231	0.00707	T	0.79532	0.43818	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.34361	B	.;.	.;.	1.995519	0.25356	16.73	0.87079188851090572	0.16974	0.00182	0.01064	N	AEFBI	0.056229	0.10378	N	-0.819753390612407	0.12806	0.6266146	-1.08128031475341	0.08069	0.3951516	1.5455898311315E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.743	-1.49	0.08259	-0.147000	0.10218	0.176000	0.15576	0.178000	0.17791	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.4971:0.5029:0.0	3.617	0.07624	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.375	9999.09	402	chr3	195781645	.	G	T,*	9999.09	.	AC=1,5;AF=0.063,0.313;AN=16;BaseQRankSum=-3.990e-01;DP=5790;ExcessHet=0.4981;FS=0.000;InbreedingCoeff=0.1231;MLEAC=2,10;MLEAF=0.125,0.625;MQ=56.29;MQRankSum=12.92;QD=5.33;ReadPosRankSum=1.70;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:124,0,0:124:0:.:.:0,0,0,0,0,0	3	0	1	13
chr3	195781645	195781645	G	0	exonic	MUC4	.	.	.	.	.	536	587	364	31	4	430	0.26625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	9999.09	402	chr3	195781645	.	G	T,*	9999.09	.	AC=1,5;AF=0.063,0.313;AN=16;BaseQRankSum=-3.990e-01;DP=5790;ExcessHet=0.4981;FS=0.000;InbreedingCoeff=0.1231;MLEAC=2,10;MLEAF=0.125,0.625;MQ=56.29;MQRankSum=12.92;QD=5.33;ReadPosRankSum=1.70;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:124,0,0:124:0:.:.:0,0,0,0,0,0	3	0	1	13
chr3	195781647	195781647	A	0	exonic	MUC4	.	.	.	.	.	611	468	62	7	374	450	0.0750988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	8091.5	402	chr3	195781647	.	A	G,*	8091.5	.	AC=1,6;AF=0.056,0.333;AN=18;BaseQRankSum=-9.110e-01;DP=5805;ExcessHet=1.1475;FS=1.742;InbreedingCoeff=0.0793;MLEAC=2,11;MLEAF=0.111,0.611;MQ=55.79;MQRankSum=-9.225e+00;QD=3.82;ReadPosRankSum=-1.318e+00;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:124,0,0:124:0:.:.:0,0,0,0,0,0	3	0	1	12
chr3	195781666	195781666	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	6369.68	402	chr3	195781666	.	A	*,G	6369.68	.	AC=6,1;AF=0.300,0.050;AN=20;BaseQRankSum=1.86;DP=5542;ExcessHet=1.1475;FS=3.216;InbreedingCoeff=0.1231;MLEAC=10,2;MLEAF=0.500,0.100;MQ=54.75;MQRankSum=-7.719e+00;QD=3.17;ReadPosRankSum=-7.700e-01;SOR=0.830	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:124,0,0:124:0:.:.:0,0,0,0,0,0	4	1	4	11
chr3	195781727	195781727	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G9853A:p.D3285N	.	.	459	1061	2	0	0	2	0.00094162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	B	0.004	B	.	.	1.000	N	0	N	1.5	T	-1.003	T	0.029	T	0.019	0.344	5.864	0.423	0.494	-0.452	4.212	0.021	0.000773422716589	.	.	0.0003	0.0030	0	0	0	0	0	0.0001	.	.	.	rs1217189945	0.0001	0.0007	0.0002	0.0001	0.0062	0.0001	0.0001	0.0054	0.0051	0.0062	9.154e-05	0	0.0001	0	0.0003	1.536e-05	0.0001	2.687e-05	0.0001	0.0007	0.0001	0.0001	0.0005	6.831e-05	5.35e-05	0.0001	9.894e-05	0.0003	0	0.0003	0	0.0005	0	0	1.774e-05	0	0	0.207	0.19854	T	0.46	0.12668	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.5	0.31731	T	-0.12	0.08809	N	0.056	0.02759	-1.0032	0.28992	T	0.029	0.12365	T	8	0.011815995	0.00257	T	7.73E-4	0.00568	T	0.021	0.04004	.	.	0.0138822411134	0.00435	2.743603196124897E-4	0.00024	.	.	0.540704369545	0.44544	T	.	.	.	-0.401285	0.02271	T	-0.814195	0.01573	T	0.0193586512932325	0.00641	T	0.670833	0.27951	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.15921	B	.;.	.;.	2.066037	0.26275	17.06	0.92174777314428225	0.21539	0.00078	0.00535	N	AEFBI	0.051815	0.09190	N	-1.24298654278773	0.04392	0.198147	-1.33118792865804	0.04032	0.1893627	1.24445491729759E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.423	0.423	0.15679	-1.178000	0.03203	-0.090000	0.12069	0.084000	0.17577	0.001000	0.13787	0.000000	0.08366	0.023000	0.12082	1.0E-4:0.5559:0.444:1.0E-4	4.212	0.09970	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	2828.33	186	chr3	195781727	.	C	T	2828.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.084e+00;DP=3022;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=47.23;MQRankSum=9.18;QD=10.88;ReadPosRankSum=-1.060e+00;SOR=0.667	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	19	0	1	1
chr3	195781748	195781748	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A9832G:p.T3278A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.886	P	0.176	B	.	.	1.000	N	0	N	1.45	T	-1.029	T	0.024	T	0.066	-0.923	0.393	-2.05	-0.808	-1.357	3.577	0.009	.	.	0.0307508	0.0042	0.0703	0.0052	0	0	0	0.0045	0.0001	0.006032	157	26028	rs541419189	0.0015	0.0024	0.0016	0.0013	0.0614	0.0014	0.0014	0.0589	0.0578	0.0614	0.0015	8.508e-05	3.023e-05	0	0.0020	0.0002	0.0028	2.774e-05	0.0021	0.0089	0.0020	0.0021	0.0090	0.0019	0.0018	0.0080	0.0076	0.0090	0	0.0012	0	0	0	0	0.0002	0.0019	0	0.552	0.13003	T	0.147	0.33000	T	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	.	.	.	1.45	0.32482	T	-0.13	0.08971	N	0.034	0.00942	-1.0291	0.20746	T	0.024	0.10284	T	8	0.0031976998	0.00054	T	.	.	.	0.009	0.00846	.	.	0.0138822411134	0.00435	0.001344080505687809	0.00124	.	.	0.492879897356	0.37837	T	.	.	.	-0.337474	0.05565	T	-0.722534	0.04674	T	0.00936026636761931	0.00120	T	0.547645	0.18800	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.06663	B	.;.	.;.	0.239728	0.06198	2.651	0.17752387154549229	0.00530	0.00152	0.00917	N	AEFBI	0.055550	0.10197	N	-1.13196010183875	0.06082	0.279025	-1.32536630651263	0.04105	0.192924	4.47209026539178E-5	0.03989	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.03	-2.05	0.06916	0.192000	0.16902	-6.333000	0.01428	0.091000	0.17597	0.002000	0.15269	0.000000	0.08366	0.006000	0.07323	0.0:0.0:0.4048:0.5952	3.577	0.07489	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	249.7	186	chr3	195781748	.	T	C	249.7	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.350e-01;DP=2928;ExcessHet=0.0000;FS=14.589;InbreedingCoeff=-0.0390;MLEAC=1;MLEAF=0.026;MQ=49.75;MQRankSum=-4.649e+00;QD=2.40;ReadPosRankSum=1.08;SOR=3.418	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:49,0:49:99:.:.:0,120,1800	18	0	1	2
chr3	195781751	195781751	C	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G9829C:p.D3277H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	B	0.002	B	.	.	1.000	N	0	N	1.33	T	-1.027	T	0.033	T	0.045	-1.303	0.037	-2.05	-1.454	-0.001	2.363	0.029	.	.	0.0303514	0.0043	0.0697	0.0053	0	0	0.0001	0.0045	0.0001	0.0006404	99	154602	rs553152463	0.0013	0.0025	0.0014	0.0011	0.0533	0.0012	0.0012	0.0509	0.0500	0.0533	0.0014	4.41e-05	3.293e-05	0	0.0020	0.0001	0.0026	7.288e-05	0.0022	0.0099	0.0023	0.0022	0.0098	0.0020	0.0019	0.0087	0.0083	0.0098	0	0.0014	0	0	0	0.0079	0.0002	0.0022	0	0.062	0.38185	T	0.117	0.36365	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.33	0.35219	T	-0.92	0.24676	N	0.09	0.06854	-1.0274	0.21299	T	0.033	0.14203	T	8	0.0029769838	0.00048	T	.	.	.	0.029	0.06676	.	.	0.0138822411134	0.00435	0.0012307999761926357	0.00114	.	.	0.517246603966	0.41238	T	.	.	.	-0.379132	0.03155	T	-0.782374	0.02383	T	0.0090048668370308	0.00113	T	0.705629	0.31596	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.35808	B	.;.	.;.	0.200861	0.05855	2.297	0.19096536874908887	0.00629	0.00262	0.01432	N	AEFBI	0.077916	0.15707	N	-1.82932703235201	0.00477	0.02054576	-1.90990811054609	0.00468	0.02072211	1.84092776329315E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.03	-2.05	0.06916	-3.213000	0.00614	-5.720000	0.01619	-1.986000	0.00458	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.3978:0.3285:0.2737	2.363	0.04049	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02632	246.7	186	chr3	195781751	.	C	G	246.7	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.79;DP=2926;ExcessHet=0.0000;FS=14.555;InbreedingCoeff=-0.0390;MLEAC=1;MLEAF=0.026;MQ=49.66;MQRankSum=-4.631e+00;QD=2.35;ReadPosRankSum=1.01;SOR=3.390	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:49,0:49:99:.:.:0,120,1800	18	0	1	2
chr3	195781789	195781789	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9791G:p.S3264C	.	.	.	.	.	.	.	.	.	.	.	2825223	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.994	D	0.962	D	.	.	1.000	N	0.345	N	1.35	T	-1.046	T	0.089	T	0.101	0.205	5.105	1.03	0.494	0.294	5.394	0.028	.	.	.	0.0028	0.0335	0.0047	0	0	0.0003	0	0.0002	.	.	.	rs1260213383	0.0004	0.0009	0.0004	0.0003	0.0075	0.0003	0.0003	0.0066	0.0062	0.0075	0.0006	0.0003	9.515e-05	0	0.0026	0.0001	0.0009	1.93e-05	0.0011	0.0056	0.0013	0.0010	0.0037	0.0010	0.0009	0.0031	0.0028	0.0037	0	0.0008	0.0006	0	0	0	0.0001	0.0018	0	0.036	0.43393	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.20152	N	.	.	.	1.35	0.35960	T	-0.52	0.20358	N	0.058	0.03392	-1.0464	0.15418	T	0.089	0.34325	T	8	0.0056270957	0.00125	T	.	.	.	0.028	0.06331	0.229	0.15556	0.0297737177859	0.01360	0.001013548136499485	0.00093	.	.	0.469768941402	0.34648	T	.	.	.	-0.293953	0.09243	T	-0.660019	0.08265	T	0.0111137903727331	0.00162	T	0.822818	0.48291	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.45918	B	.;.	.;.	1.908544	0.24238	16.32	0.59381222538087186	0.06211	0.00993	0.03770	N	AEFBI	0.089943	0.18228	N	-0.609396956545462	0.18661	0.9706224	-0.852740611599318	0.13221	0.6847116	1.65442328437548E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.03	1.03	0.19161	-0.438000	0.06975	0.729000	0.21072	0.093000	0.17603	0.000000	0.06391	0.001000	0.17328	0.005000	0.06747	0.0:0.0:1.0:0.0	5.394	0.15560	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.35	154.67	235	chr3	195781789	.	G	C,*	154.67	.	AC=1,13;AF=0.025,0.325;AN=40;BaseQRankSum=-1.930e+00;DP=3748;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5385;MLEAC=1,14;MLEAF=0.025,0.350;MQ=46.98;MQRankSum=-3.240e+00;QD=0.05;ReadPosRankSum=-3.910e-01;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:55,0,45:100:99:.:.:1481,1646,3878,0,2232,2104	6	0	1	1
chr3	195781789	195781789	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	154.67	235	chr3	195781789	.	G	C,*	154.67	.	AC=1,13;AF=0.025,0.325;AN=40;BaseQRankSum=-1.930e+00;DP=3748;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5385;MLEAC=1,14;MLEAF=0.025,0.350;MQ=46.98;MQRankSum=-3.240e+00;QD=0.05;ReadPosRankSum=-3.910e-01;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:55,0,45:100:99:.:.:1481,1646,3878,0,2232,2104	6	0	1	1
chr3	195781790	195781790	A	0	exonic	MUC4	.	.	.	.	.	585	525	41	5	366	417	0.0463215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	155.03	235	chr3	195781790	.	A	G,*	155.03	.	AC=1,13;AF=0.026,0.342;AN=38;BaseQRankSum=-5.110e-01;DP=3742;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5686;MLEAC=1,14;MLEAF=0.026,0.368;MQ=46.98;MQRankSum=-3.240e+00;QD=0.05;ReadPosRankSum=-5.390e-01;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:55,0,45:100:99:.:.:1481,1646,3878,0,2232,2104	5	0	1	2
chr3	195781809	195781809	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	98.03	235	chr3	195781809	.	T	A,*	98.03	.	AC=1,13;AF=0.026,0.342;AN=38;BaseQRankSum=1.65;DP=3716;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5686;MLEAC=1,14;MLEAF=0.026,0.368;MQ=39.50;MQRankSum=-7.910e-01;QD=0.03;ReadPosRankSum=-1.770e+00;SOR=0.526	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:55,0,45:100:99:.:.:1481,1646,3878,0,2232,2104	5	0	1	2
chr3	195781829	195781829	C	0	exonic	MUC4	.	.	.	.	.	519	603	37	10	353	410	0.0451306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	1756.67	235	chr3	195781829	.	C	T,*	1756.67	.	AC=1,13;AF=0.025,0.325;AN=40;BaseQRankSum=-5.383e+00;DP=3592;ExcessHet=15.6281;FS=2.445;InbreedingCoeff=-0.5385;MLEAC=1,14;MLEAF=0.025,0.350;MQ=41.70;MQRankSum=-4.776e+00;QD=0.57;ReadPosRankSum=1.90;SOR=0.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:55,0,45:100:99:.:.:1481,1646,3878,0,2232,2104	6	0	1	1
chr3	195781996	195781996	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9584T:p.T3195I,	.	.	438	1073	11	0	0	11	0.00509968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	B	0.003	B	.	.	1.000	N	0.55	N	1.18	T	-1.015	T	0.044	T	0.072	0.165	4.886	0.743	0.088	0.510	3.255	0.012	0.000680715796675	.	0.000199681	0.0029	0	0	0	0	0.0003	0	0.0064	1.29e-05	2	154602	rs553359649	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0	0.0002	0	0	0	0.0015	6.178e-05	0.0002	0.0027	5.911e-05	0.0001	8.658e-05	3.029e-05	0.0002	2.938e-05	2.133e-05	4.1e-05	2.731e-05	2.976e-05	0	0	0	0	0	0	9.485e-05	0	0.0002	0.032	0.63226	D	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	1.16	0.38073	T	-1.42	0.34992	N	0.087	0.06454	-1.0154	0.25207	T	0.044	0.18989	T	8	0.0055933893	0.00124	T	6.81E-4	0.00400	T	0.012	0.01476	.	.	0.0138822411134	0.00435	7.689607933966678E-4	0.00070	.	.	0.521981835365	0.41905	T	.	.	.	-0.307992	0.07926	T	-0.680186	0.06972	T	0.0172104104395593	0.00464	T	0.851115	0.53499	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464	0.62898	A	.;.	.;.	1.295274	0.16964	12.88	0.78818462309405501	0.12466	0.00247	0.01365	N	AEFI	0.047472	0.07999	N	-1.19717036555302	0.05043	0.2289773	-1.28932571266452	0.04573	0.2160548	1.23697505538687E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.743	0.743	0.17496	0.260000	0.18192	-0.467000	0.09002	-1.176000	0.01393	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	0.3579:0.0:0.6421:0.0	3.255	0.06425	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	2565.33	106	chr3	195781996	.	G	A	2565.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.469e+00;DP=3183;ExcessHet=0.0000;FS=10.588;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=38.18;MQRankSum=2.47;QD=8.85;ReadPosRankSum=-7.200e-01;SOR=1.260	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:219,0:219:99:.:.:0,120,1800	19	0	1	1
chr3	195782155	195782155	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9425T:p.T3142I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.824	P	0.507	P	.	.	1.000	N	0.345	N	1.54	T	-1.053	T	0.054	T	0.052	-0.115	3.435	.	-0.000	0.644	4.660	0.054	0.00335105933604	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs1348096244	1.716e-05	3.087e-05	1.28e-05	2.171e-05	0.0003	1.103e-05	9.36e-06	0.0001	8.554e-05	0	0	0	0.0003	0	0	7.171e-06	0	0.0001	7.197e-06	0.0002	1.407e-05	0	1.552e-05	0	0	.	.	0	0	0	0	0	0	0	1.552e-05	0	0	0.01	0.56456	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.35	0.34648	T	-1.72	0.40850	N	0.094	0.07398	-1.0534	0.13466	T	0.054	0.22921	T	7	0.10524678	0.19445	T	0.003351	0.07482	T	0.054	0.15330	0.171	0.07655	0.0138822411134	0.00435	3.3087664504990663E-4	0.00030	.	.	0.546682417393	0.45389	T	.	.	.	-0.301902	0.08481	T	-0.671438	0.07516	T	0.072042804472789	0.08935	T	0.812519	0.46414	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.43544	B	.;.	.;.	1.724386	0.21953	15.42	0.74155796043252709	0.10590	0.00584	0.02629	N	AEFBI	0.085834	0.17401	N	-0.89444982236402	0.10973	0.5271463	-1.11700416147729	0.07375	0.3584931	1.18828869086884E-5	0.02871	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	1.933000	0.39783	-0.183000	0.11113	0.190000	0.17853	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	4.660	0.12022	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	524.33	408	chr3	195782155	.	G	A	524.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.100e-01;DP=7447;ExcessHet=0.0000;FS=9.077;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=51.99;MQRankSum=-8.781e+00;QD=2.15;ReadPosRankSum=-3.830e+00;SOR=1.450	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:652,0:652:99:.:.:0,120,1800	19	0	1	1
chr3	195782321	195782416	TGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGCGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.9164_9259del:p.N3055_A3086del	.	.	422	1044	54	0	2	56	0.0252101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020	0.0042	0.0019	0.0021	0.0048	0.0019	0.0019	0.0042	0.0040	0.0044	0.0026	0.0060	0.0048	0.0042	0.0026	0.0016	0.0037	0.0007	0.0036	0.0085	0.0036	0.0036	0.0049	0.0034	0.0033	0.0039	0.0037	0.0021	0.0022	0.0036	0.0056	0.0049	0.0045	0	0.0043	0.0034	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	571.3	408	chr3	195782320	.	GTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGCGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGT	G	571.3	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.96;DP=7734;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=54.86;MQRankSum=-3.930e+00;QD=1.04;ReadPosRankSum=-1.559e+00;SOR=0.685	GT:AD:DP:GQ:PL	0/0:363,0:363:99:0,120,1800	19	0	1	1
chr3	195782324	195782324	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	5562.79	408	chr3	195782324	.	C	*,T	5562.79	.	AC=1,1;AF=0.026,0.026;AN=38;BaseQRankSum=-1.690e+00;DP=7542;ExcessHet=0.0000;FS=1.808;InbreedingCoeff=0.8799;MLEAC=1,1;MLEAF=0.026,0.026;MQ=55.31;MQRankSum=9.24;QD=15.20;ReadPosRankSum=1.94;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:363,0,0:363:99:.:.:0,120,1800,120,1800,1800	18	0	0	2
chr3	195782324	195782324	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G9256A:p.A3086T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.901	P	0.097	B	.	.	1.000	N	0	N	1.42	T	-1.016	T	0.027	T	0.068	-0.434	1.980	.	-0.889	0.702	5.383	0.044	0.00233228865413	.	.	0.0002	0	0	0.0015	0	0.0001	0	0.0003	3.84e-05	1	26028	rs71321824	0.0001	0.0001	0.0001	0.0001	0.0022	9.562e-05	9.009e-05	0.0018	0.0017	0.0003	0.0002	0	0.0022	6.387e-05	0.0005	3.692e-05	0.0001	8.998e-05	0.0002	0.0002	0.0002	0.0002	0.0015	0.0001	8.904e-05	0.0007	0.0005	0.0003	0	0	0	0.0015	0	0	4.655e-05	0	0	0.21	0.19639	T	0.281	0.22016	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.42	0.34050	T	-0.07	0.08033	N	0.026	0.01203	-1.0159	0.25045	T	0.027	0.11663	T	7	0.016028374	0.00337	T	0.002332	0.04507	T	0.044	0.11924	.	.	0.0138822411134	0.00435	1.8866317214732265E-4	0.00016	.	.	0.559282898903	0.47168	T	.	.	.	-0.363377	0.03943	T	-0.759743	0.03121	T	0.00589901928956647	0.00065	T	0.673133	0.28166	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05447	B	.;.	.;.	0.398040	0.07692	4.368	0.22581552185435536	0.00915	0.00043	0.00351	N	AEFBI	0.045854	0.07545	N	-0.9690251751249	0.09271	0.4380587	-1.12326613866754	0.07257	0.3523199	3.12243890607817E-5	0.03775	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-2.022000	0.01527	-5.852000	0.01575	-2.610000	0.00233	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.441:0.559:0.0:0.0	5.383	0.15501	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	5562.79	408	chr3	195782324	.	C	*,T	5562.79	.	AC=1,1;AF=0.026,0.026;AN=38;BaseQRankSum=-1.690e+00;DP=7542;ExcessHet=0.0000;FS=1.808;InbreedingCoeff=0.8799;MLEAC=1,1;MLEAF=0.026,0.026;MQ=55.31;MQRankSum=9.24;QD=15.20;ReadPosRankSum=1.94;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:363,0,0:363:99:.:.:0,120,1800,120,1800,1800	18	0	0	2
chr3	195782331	195782331	T	0	exonic;splicing	MUC4;MUC4	NM_001322468:exon10:c.8387-2A>0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	5332.79	408	chr3	195782331	.	T	*,G	5332.79	.	AC=1,1;AF=0.026,0.026;AN=38;BaseQRankSum=-4.814e+00;DP=7552;ExcessHet=0.0000;FS=0.515;InbreedingCoeff=0.8799;MLEAC=1,1;MLEAF=0.026,0.026;MQ=55.01;MQRankSum=9.83;QD=14.45;ReadPosRankSum=2.59;SOR=0.753	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:363,0,0:363:99:.:.:0,120,1800,120,1800,1800	18	0	0	2
chr3	195782411	195782411	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9169G:p.L3057V,	.	.	433	1031	56	0	2	58	0.02644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.784	P	0.092	B	.	.	1.000	N	0.55	N	1.51	T	-1.038	T	0.029	T	0.096	0.106	4.572	.	-0.414	-0.389	3.379	0.010	0.0018974840316	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1158136848	0.0004	0.0010	0.0004	0.0004	0.0004	0.0004	0.0004	0.0003	0.0003	7.625e-05	0.0004	0.0015	3.796e-05	0.0015	0	0.0004	0.0006	0	0.0016	0.0052	0.0017	0.0014	0.0022	0.0014	0.0013	0.0019	0.0018	0.0006	0.0086	0.0011	0.0031	0	0.0015	0	0.0022	0.0005	0.0004	0.371	0.22660	T	0.666	0.06427	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.51	0.32482	T	-0.02	0.07299	N	0.043	0.01577	-1.0380	0.17924	T	0.029	0.12278	T	7	0.009854794	0.00221	T	0.001897	0.03351	T	0.010	0.01040	.	.	0.0297737177859	0.01360	1.492367004788712E-4	0.00012	.	.	0.472234934568	0.34987	T	.	.	.	-0.305642	0.08138	T	-0.67681	0.07180	T	0.0302767216235338	0.02032	T	0.807619	0.45757	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.28377	B	.;.	.;.	0.701192	0.10700	7.393	0.7859687701517204	0.12370	0.00224	0.01258	N	AEFBI	0.046021	0.07594	N	-1.07037780474094	0.07194	0.3334489	-1.266179450805	0.04896	0.2320322	1.15922054809651E-5	0.02871	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	0.360000	0.19987	-4.502000	0.02124	0.093000	0.17603	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.6539:0.0:0.3461:0.0	3.379	0.06826	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05263	174.8	408	chr3	195782411	.	G	C,*	174.8	.	AC=1,1;AF=0.026,0.026;AN=38;BaseQRankSum=2.25;DP=7351;ExcessHet=0.1190;FS=0.777;InbreedingCoeff=0.1592;MLEAC=1,1;MLEAF=0.026,0.026;MQ=57.85;MQRankSum=-8.603e+00;QD=0.20;ReadPosRankSum=-5.540e+00;SOR=0.921	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:186,0,0:186:99:.:.:0,120,1800,120,1800,1800	17	0	1	2
chr3	195782411	195782411	G	0	exonic	MUC4	.	.	.	.	.	433	1031	56	0	2	58	0.02644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	174.8	408	chr3	195782411	.	G	C,*	174.8	.	AC=1,1;AF=0.026,0.026;AN=38;BaseQRankSum=2.25;DP=7351;ExcessHet=0.1190;FS=0.777;InbreedingCoeff=0.1592;MLEAC=1,1;MLEAF=0.026,0.026;MQ=57.85;MQRankSum=-8.603e+00;QD=0.20;ReadPosRankSum=-5.540e+00;SOR=0.921	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:186,0,0:186:99:.:.:0,120,1800,120,1800,1800	17	0	1	2
chr3	195782416	195782416	T	0	exonic	MUC4	.	.	.	.	.	469	990	7	0	56	63	0.0035229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	132.11	477	chr3	195782416	.	T	G,*	132.11	.	AC=1,1;AF=0.071,0.071;AN=14;BaseQRankSum=2.85;DP=7833;ExcessHet=0.1259;FS=1.711;InbreedingCoeff=-0.1274;MLEAC=2,2;MLEAF=0.143,0.143;MQ=57.61;MQRankSum=-8.694e+00;QD=0.15;ReadPosRankSum=-6.190e+00;SOR=0.963	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:189,0,0:189:0:.:.:0,0,0,0,0,0	5	0	1	14
chr3	195782507	195782507	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	3617.11	473	chr3	195782507	.	G	C,*	3617.11	.	AC=1,8;AF=0.025,0.200;AN=40;BaseQRankSum=0.608;DP=8469;ExcessHet=0.1022;FS=1.731;InbreedingCoeff=0.2832;MLEAC=1,8;MLEAF=0.025,0.200;MQ=55.87;MQRankSum=-1.046e+01;QD=1.40;ReadPosRankSum=1.53;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:327,0,0:327:99:.:.:0,120,1800,120,1800,1800	13	0	1	1
chr3	195782517	195782517	G	0	exonic	MUC4	.	.	.	.	.	464	935	5	4	114	127	0.00690388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2353	782.1	473	chr3	195782517	.	G	A,*	782.1	.	AC=1,7;AF=0.029,0.206;AN=34;BaseQRankSum=2.28;DP=8484;ExcessHet=0.0354;FS=1.107;InbreedingCoeff=0.2407;MLEAC=1,8;MLEAF=0.029,0.235;MQ=52.14;MQRankSum=-7.400e+00;QD=0.36;ReadPosRankSum=3.01;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:379,49,0:428:99:0|1:195782517_G_A:794,0,15707,1921,15741,17643:195782517	11	0	1	4
chr3	195782558	195782558	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3667	57440.95	642	chr3	195782558	.	A	G,*	57440.95	.	AC=9,4;AF=0.300,0.133;AN=30;BaseQRankSum=-2.341e+00;DP=9169;ExcessHet=0.9330;FS=0.571;InbreedingCoeff=0.1246;MLEAC=12,5;MLEAF=0.400,0.167;MQ=56.40;MQRankSum=-5.591e+00;QD=11.79;ReadPosRankSum=1.28;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:49,220,225:494:99:.:.:13553,5677,6814,4342,0,7516	5	1	5	6
chr3	195782572	195782572	A	0	exonic	MUC4	.	.	.	.	.	613	867	19	6	17	48	0.0175637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	4722.96	605	chr3	195782572	.	A	*,G	4722.96	.	AC=4,2;AF=0.182,0.091;AN=22;BaseQRankSum=5.52;DP=8908;ExcessHet=2.2993;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=6,3;MLEAF=0.273,0.136;MQ=55.81;MQRankSum=-1.087e+01;QD=1.68;ReadPosRankSum=-9.100e-01;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:245,225,36:506:99:0|1:195782517_G_A:6675,0,9082,6037,7778,16950:195782517	5	0	4	10
chr3	195782605	195782605	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	11928.07	612	chr3	195782605	.	A	*,AGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAG	11928.07	.	AC=4,3;AF=0.182,0.136;AN=22;BaseQRankSum=-3.569e+00;DP=8646;ExcessHet=0.4362;FS=1.176;InbreedingCoeff=-0.0256;MLEAC=6,5;MLEAF=0.273,0.227;MQ=55.03;MQRankSum=-9.332e+00;QD=5.50;ReadPosRankSum=-3.846e+00;SOR=0.586	GT:AD:DP:GQ:PL	1/2:0,259,151:418:99:14977,7869,14834,7420,0,6734	5	0	3	10
chr3	195782885	195782885	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C8695G:p.L2899V	.	.	441	1001	71	3	6	83	0.037037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	B	0.002	B	.	.	0.827	N	0	N	1.48	T	-0.997	T	0.029	T	0.052	0.090	4.487	.	-0.000	-3.385	3.442	0.025	0.00300548804343	.	.	9.549e-05	0	0	0	0	0	0	0.0003	0.0016521	43	26028	rs28750097	0.0009	0.0041	0.0010	0.0008	0.0040	0.0009	0.0008	0.0032	0.0029	0.0040	0.0002	0.0003	0.0004	0.0006	0.0031	0.0009	0.0012	0.0002	0.0020	0.0064	0.0023	0.0017	0.0052	0.0017	0.0016	0.0042	0.0038	0.0052	0.0023	0.0012	0.0005	0.0016	0.0014	0	0.0014	0	0.0020	1.0	0.00964	T	0.239	0.24549	T	.	.	.	.	.	.	.	.	.	.	1	0.28805	N	.	.	.	1.48	0.31731	T	0.12	0.06026	N	0.041	0.01421	-0.9966	0.30865	T	0.029	0.12453	T	7	0.018572211	0.00405	T	0.003005	0.06427	T	0.025	0.05312	.	.	0.0138822411134	0.00435	3.044775719837448E-5	0.00003	.	.	0.465785056353	0.34102	T	.	.	.	-0.391543	0.02629	T	-0.800201	0.01897	T	0.0372411984655896	0.03198	T	0.614539	0.23442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00949	B	.;.	.;.	-0.394630	0.02232	0.226	0.80108681051515207	0.13048	0.00125	0.00780	N	AEFBI	0.068702	0.13564	N	-1.42677761699849	0.02406	0.1061872	-1.52815469191101	0.02130	0.09750297	1.15675074745198E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-1.437000	0.02525	-2.218000	0.04042	-1.118000	0.01477	0.000000	0.06391	0.008000	0.19753	0.005000	0.06747	0.6613:0.0:0.3387:0.0	3.442	0.07038	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09091	8904.68	577	chr3	195782885	.	G	GAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGAC,C	8904.68	.	AC=1,1;AF=0.045,0.045;AN=22;BaseQRankSum=-1.141e+00;DP=13631;ExcessHet=0.1128;FS=0.000;InbreedingCoeff=-0.1940;MLEAC=2,2;MLEAF=0.091,0.091;MQ=57.07;MQRankSum=-1.545e+01;QD=7.58;ReadPosRankSum=-4.713e+00;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:786,0,0:786:0:.:.:0,0,12961,0,12961,12961	9	0	1	10
chr3	195782946	195782946	G	0	exonic	MUC4	.	.	.	.	.	509	947	38	4	24	70	0.0237113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	3805.22	528	chr3	195782946	.	G	*,A	3805.22	.	AC=1,1;AF=0.056,0.056;AN=18;BaseQRankSum=-1.966e+00;DP=10786;ExcessHet=0.1128;FS=5.738;InbreedingCoeff=-0.2308;MLEAC=2,2;MLEAF=0.111,0.111;MQ=55.77;MQRankSum=2.60;QD=7.23;ReadPosRankSum=7.98;SOR=0.480	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:626,0,0:626:0:.:.:0,0,12026,0,12026,12026	7	0	1	12
chr3	195782949	195782949	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6111	89047.24	581	chr3	195782949	.	A	G,*	89047.24	.	AC=11,1;AF=0.611,0.056;AN=18;BaseQRankSum=0.195;DP=11733;ExcessHet=5.3821;FS=0.000;InbreedingCoeff=0.0111;MLEAC=20,2;MLEAF=1.00,0.111;MQ=56.70;MQRankSum=-8.626e+00;QD=21.07;ReadPosRankSum=0.379;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:678,0,0:678:0:.:.:0,0,0,0,0,0	0	2	6	12
chr3	195782990	195782990	A	0	exonic	MUC4	.	.	.	.	.	482	988	29	6	17	58	0.0203272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5209.43	568	chr3	195782990	.	A	G,*	5209.43	.	AC=1,2;AF=0.056,0.111;AN=18;BaseQRankSum=-8.000e-03;DP=9903;ExcessHet=0.3672;FS=4.247;InbreedingCoeff=-0.1947;MLEAC=2,4;MLEAF=0.111,0.222;MQ=55.34;MQRankSum=0.946;QD=5.26;ReadPosRankSum=9.61;SOR=0.471	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:621,0,0:621:0:.:.:0,0,15516,0,15516,15516	6	0	1	12
chr3	195783008	195783008	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	8929.47	518	chr3	195783008	.	A	G,*	8929.47	.	AC=3,5;AF=0.107,0.179;AN=28;BaseQRankSum=-9.100e-01;DP=10671;ExcessHet=3.7745;FS=0.000;InbreedingCoeff=-0.3793;MLEAC=4,6;MLEAF=0.143,0.214;MQ=56.37;MQRankSum=-4.251e+00;QD=2.12;ReadPosRankSum=0.842;SOR=0.660	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:656,0,0:656:0:.:.:0,0,6057,0,6057,6057	6	0	3	7
chr3	195783009	195783009	C	0	exonic	MUC4	.	.	.	.	.	474	974	47	0	27	74	0.0235589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	8931.46	521	chr3	195783009	.	C	*,T	8931.46	.	AC=5,3;AF=0.179,0.107;AN=28;BaseQRankSum=-4.990e-01;DP=10668;ExcessHet=3.7745;FS=0.000;InbreedingCoeff=-0.3793;MLEAC=7,4;MLEAF=0.250,0.143;MQ=56.37;MQRankSum=-4.434e+00;QD=2.12;ReadPosRankSum=1.05;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:656,0,0:656:0:.:.:0,0,6057,0,6057,6057	6	0	5	7
chr3	195783015	195783015	G	0	exonic	MUC4	.	.	.	.	.	1	211	4	0	10	14	0.00938967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1364	1248.83	612	chr3	195783015	.	G	*,C	1248.83	.	AC=2,1;AF=0.091,0.045;AN=22;BaseQRankSum=-6.830e-01;DP=10246;ExcessHet=0.3672;FS=2.211;InbreedingCoeff=-0.1458;MLEAC=3,2;MLEAF=0.136,0.091;MQ=55.31;MQRankSum=3.39;QD=0.83;ReadPosRankSum=2.96;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:647,0,0:647:0:.:.:0,0,14042,0,14042,14042	8	0	2	10
chr3	195783018	195783020	AGC	0	exonic	MUC4	.	.	.	.	.	441	1022	49	0	10	59	0.0234114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	2034.02	612	chr3	195783018	.	AGC	*,A	2034.02	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=5.41;DP=9542;ExcessHet=0.1190;FS=2.100;InbreedingCoeff=0.0402;MLEAC=1,1;MLEAF=0.031,0.031;MQ=55.31;MQRankSum=1.16;QD=1.36;ReadPosRankSum=0.612;SOR=0.786	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:578,0,0:578:99:.:.:0,120,1800,120,1800,1800	14	0	1	5
chr3	195783019	195783020	GC	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.8560_8561del:p.A2854Ffs*55	.	.	441	1022	49	0	10	59	0.0234114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0036	0.0005	0	0	0.0102	0.0045	0	0.0025	0.0001537	4	26028	rs1454491239	0.0052	0.0051	0.0051	0.0053	0.0058	0.0051	0.0051	0.0047	0.0046	0.0010	0.0054	0.0039	0.0042	0.0203	0.0058	0.0047	0.0060	0.0047	0.0045	0.0053	0.0041	0.0050	0.0067	0.0042	0.0041	0.0055	0.0051	0.0009	0	0.0067	0.0031	0.0018	0.0082	0	0.0058	0.0050	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	2034.02	612	chr3	195783018	.	AGC	*,A	2034.02	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=5.41;DP=9542;ExcessHet=0.1190;FS=2.100;InbreedingCoeff=0.0402;MLEAC=1,1;MLEAF=0.031,0.031;MQ=55.31;MQRankSum=1.16;QD=1.36;ReadPosRankSum=0.612;SOR=0.786	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:578,0,0:578:99:.:.:0,120,1800,120,1800,1800	14	0	1	5
chr3	195783022	195783116	TCGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGC	0	exonic	MUC4	.	.	.	.	.	440	1025	47	0	10	57	0.022413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	1782.02	612	chr3	195783022	.	TCGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGC	*,T	1782.02	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=3.08;DP=9820;ExcessHet=0.1190;FS=2.100;InbreedingCoeff=0.0402;MLEAC=1,1;MLEAF=0.031,0.031;MQ=56.45;MQRankSum=-3.280e-01;QD=1.02;ReadPosRankSum=0.492;SOR=0.737	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:578,0,0:578:99:.:.:0,120,1800,120,1800,1800	14	0	1	5
chr3	195783023	195783116	CGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGC	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.8464_8557del:p.A2822Tfs*151,	.	.	440	1025	47	0	10	57	0.022413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0039	0.0005	0	0	0.0102	0.0050	0	0.0026	0.0001537	4	26028	.	0.0035	0.0047	0.0034	0.0035	0.0043	0.0034	0.0033	0.0034	0.0032	0.0007	0.0040	0.0026	0.0026	0.0139	0.0043	0.0031	0.0044	0.0027	0.0040	0.0049	0.0036	0.0045	0.0060	0.0037	0.0036	0.0049	0.0045	0.0009	0	0.0060	0.0028	0.0010	0.0086	0	0.0049	0.0047	0.0038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	1782.02	612	chr3	195783022	.	TCGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGC	*,T	1782.02	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=3.08;DP=9820;ExcessHet=0.1190;FS=2.100;InbreedingCoeff=0.0402;MLEAC=1,1;MLEAF=0.031,0.031;MQ=56.45;MQRankSum=-3.280e-01;QD=1.02;ReadPosRankSum=0.492;SOR=0.737	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:578,0,0:578:99:.:.:0,120,1800,120,1800,1800	14	0	1	5
chr3	195783068	195783068	G	0	exonic	MUC4	.	.	.	.	.	442	900	103	29	48	209	0.082101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3214	13824.02	469	chr3	195783068	.	G	T,*	13824.02	.	AC=6,3;AF=0.214,0.107;AN=28;BaseQRankSum=1.62;DP=9197;ExcessHet=5.7770;FS=6.457;InbreedingCoeff=-0.2980;MLEAC=8,4;MLEAF=0.286,0.143;MQ=56.56;MQRankSum=-1.160e+01;QD=4.34;ReadPosRankSum=-2.209e+00;SOR=1.099	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:528,0,0:528:99:.:.:0,120,1800,120,1800,1800	5	0	6	7
chr3	195783070	195783070	A	0	exonic	MUC4	.	.	.	.	.	2	173	30	8	13	59	0.117347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	14051.12	468	chr3	195783070	.	A	C,*	14051.12	.	AC=6,4;AF=0.200,0.133;AN=30;BaseQRankSum=1.87;DP=9244;ExcessHet=6.9875;FS=3.367;InbreedingCoeff=-0.3690;MLEAC=8,5;MLEAF=0.267,0.167;MQ=56.95;MQRankSum=-9.607e+00;QD=3.58;ReadPosRankSum=-2.103e+00;SOR=0.952	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:528,0,0:528:99:.:.:0,120,1800,120,1800,1800	5	0	6	6
chr3	195783071	195783119	TGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGCGTC	0	exonic	MUC4	.	.	.	.	.	430	1001	39	9	43	100	0.0276833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	7527.28	575	chr3	195783071	.	TGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGCGTC	*,T	7527.28	.	AC=4,2;AF=0.133,0.067;AN=30;BaseQRankSum=-6.540e-01;DP=9679;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.0911;MLEAC=5,3;MLEAF=0.167,0.100;MQ=57.61;MQRankSum=-9.008e+00;QD=2.31;ReadPosRankSum=2.20;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:365,0,39:404:99:0|1:195783071_TGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGCGTC_T:438,1534,16004,0,14470,14341:195783071	9	0	4	6
chr3	195783084	195783084	A	0	exonic	MUC4	.	.	.	.	.	29	112	61	14	10	99	0.284345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	76734.88	472	chr3	195783084	.	A	C,*	76734.88	.	AC=14,3;AF=0.368,0.079;AN=38;BaseQRankSum=-3.116e+00;DP=9201;ExcessHet=0.8299;FS=0.000;InbreedingCoeff=0.0328;MLEAC=15,3;MLEAF=0.395,0.079;MQ=57.96;MQRankSum=-8.050e-01;QD=13.77;ReadPosRankSum=-5.900e-01;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,256,39:295:99:1|0:195783071_TGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGCGTC_T:11822,1527,837,9939,0,9799:195783071	6	2	8	2
chr3	195783086	195783086	A	0	exonic	MUC4	.	.	.	.	.	490	879	93	33	27	186	0.0829421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	10418.23	479	chr3	195783086	.	A	*,G	10418.23	.	AC=5,7;AF=0.179,0.250;AN=28;BaseQRankSum=0.783;DP=8967;ExcessHet=1.0583;FS=3.282;InbreedingCoeff=-0.1323;MLEAC=7,9;MLEAF=0.250,0.321;MQ=57.34;MQRankSum=-1.078e+01;QD=2.74;ReadPosRankSum=-4.326e+00;SOR=0.864	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:293,0,0:293:0:.:.:0,0,6312,0,6312,6312	4	0	4	7
chr3	195783093	195783093	A	0	exonic	MUC4	.	.	.	.	.	83	60	55	21	7	104	0.447005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	99636.6	482	chr3	195783093	.	A	G,*	99636.6	.	AC=15,2;AF=0.469,0.063;AN=32;BaseQRankSum=-2.015e+00;DP=8944;ExcessHet=1.9072;FS=0.000;InbreedingCoeff=-0.0323;MLEAC=18,2;MLEAF=0.563,0.063;MQ=58.06;MQRankSum=-9.630e-01;QD=17.76;ReadPosRankSum=0.012;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:1,263,39:303:99:1|0:195783071_TGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGCGTC_T:12045,1494,704,10220,0,10694:195783071	3	2	9	5
chr3	195783103	195783103	A	0	exonic	MUC4	.	.	.	.	.	690	605	177	26	24	253	0.159138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	4587.88	506	chr3	195783103	.	A	G,*	4587.88	.	AC=6,4;AF=0.300,0.200;AN=20;BaseQRankSum=4.06;DP=8924;ExcessHet=0.4906;FS=4.240;InbreedingCoeff=-0.0371;MLEAC=10,6;MLEAF=0.500,0.300;MQ=58.00;MQRankSum=-1.052e+01;QD=1.60;ReadPosRankSum=-4.436e+00;SOR=0.851	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:297,0,0:297:0:.:.:0,0,5302,0,5302,5302	2	1	3	11
chr3	195783105	195783105	C	0	exonic	MUC4	.	.	.	.	.	522	914	37	26	23	112	0.0464267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2812	2897.01	506	chr3	195783105	.	C	T,*	2897.01	.	AC=6,4;AF=0.188,0.125;AN=32;BaseQRankSum=1.38;DP=7813;ExcessHet=0.3364;FS=4.620;InbreedingCoeff=0.1275;MLEAC=7,5;MLEAF=0.219,0.156;MQ=57.99;MQRankSum=-1.166e+01;QD=1.02;ReadPosRankSum=-5.051e+00;SOR=0.973	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:297,0,0:297:0:.:.:0,0,5302,0,5302,5302	8	1	3	5
chr3	195783106	195783106	A	0	exonic	MUC4	.	.	.	.	.	522	916	35	26	23	110	0.0453361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2812	2727.94	506	chr3	195783106	.	A	*,G	2727.94	.	AC=4,6;AF=0.125,0.188;AN=32;BaseQRankSum=5.87;DP=7812;ExcessHet=0.3364;FS=3.688;InbreedingCoeff=0.1275;MLEAC=5,7;MLEAF=0.156,0.219;MQ=57.97;MQRankSum=-1.105e+01;QD=0.96;ReadPosRankSum=-4.100e+00;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:297,0,0:297:0:.:.:0,0,5302,0,5302,5302	8	0	3	5
chr3	195783108	195783108	T	0	exonic	MUC4	.	.	.	.	.	516	925	32	26	23	107	0.0434333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1538	1867.95	571	chr3	195783108	.	T	C,*	1867.95	.	AC=4,1;AF=0.154,0.038;AN=26;BaseQRankSum=-2.420e-01;DP=7503;ExcessHet=0.0568;FS=11.270;InbreedingCoeff=0.1651;MLEAC=6,1;MLEAF=0.231,0.038;MQ=57.87;MQRankSum=-1.176e+01;QD=2.39;ReadPosRankSum=-3.756e+00;SOR=1.387	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:297,0,0:297:0:.:.:0,0,5302,0,5302,5302	9	0	3	8
chr3	195783115	195783115	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C8465T:p.A2822V,	.	.	518	942	16	23	23	85	0.0318602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.784	P	0.235	B	.	.	1.000	N	0.345	N	1.54	T	-1.043	T	0.034	T	0.078	1.475	10.88	.	-0.000	0.527	5.818	0.055	0.00808758064807	.	.	9.747e-05	0	0	0	0	0.0002	0	0	3.88e-05	6	154602	rs779130828	0.0006	0.0075	0.0006	0.0007	0.0014	0.0006	0.0006	0.0010	0.0009	0.0001	0.0003	0.0008	0.0014	0.0011	0.0007	0.0006	0.0009	0.0001	0.0005	0.0090	0.0006	0.0005	0.0009	0.0004	0.0004	0.0007	0.0006	0.0002	0	0.0005	0.0003	0	0.0002	0	0.0009	0.0006	0	0.024	0.47745	D	0.018	0.59732	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.54	0.30133	T	-0.32	0.12283	N	0.091	0.06990	-1.0429	0.16443	T	0.034	0.14509	T	7	0.057775825	0.06688	T	0.008088	0.21444	T	0.055	0.15663	0.112	0.02175	0.0138822411134	0.00435	4.332367442156766E-5	0.00003	.	.	0.49801659584	0.38551	T	.	.	.	-0.322191	0.06720	T	-0.700582	0.05794	T	0.0232126214171904	0.01049	T	0.561544	0.19673	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.28550	B	.;.	.;.	1.043626	0.14243	10.82	0.97275147961025843	0.33153	0.04537	0.10171	N	AEFBI	0.111671	0.22101	N	-0.87767777179361	0.11376	0.5485977	-1.04387443529792	0.08835	0.4363716	0.00134275207830979	0.08462	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	0.054000	0.14087	0.088000	0.14478	0.193000	0.17869	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.001:0.0:0.999:0.0	5.818	0.17765	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07692	865.72	571	chr3	195783115	.	G	A,*	865.72	.	AC=2,1;AF=0.077,0.038;AN=26;BaseQRankSum=2.60;DP=7423;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3186;MLEAC=3,1;MLEAF=0.115,0.038;MQ=56.27;MQRankSum=-1.761e+00;QD=3.92;ReadPosRankSum=-5.110e-01;SOR=1.039	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:297,0,0:297:0:.:.:0,0,5302,0,5302,5302	11	0	1	8
chr3	195783115	195783115	G	0	exonic	MUC4	.	.	.	.	.	518	942	16	23	23	85	0.0318602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	865.72	571	chr3	195783115	.	G	A,*	865.72	.	AC=2,1;AF=0.077,0.038;AN=26;BaseQRankSum=2.60;DP=7423;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3186;MLEAC=3,1;MLEAF=0.115,0.038;MQ=56.27;MQRankSum=-1.761e+00;QD=3.92;ReadPosRankSum=-5.110e-01;SOR=1.039	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:297,0,0:297:0:.:.:0,0,5302,0,5302,5302	11	0	1	8
chr3	195783119	195783119	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G8461A:p.D2821N,	.	.	523	945	13	20	21	74	0.0272774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	B	0.0	B	.	.	0.967	N	0.345	N	1.63	T	-0.998	T	0.034	T	0.028	0.684	7.659	.	-0.000	-0.466	4.544	0.017	0.00361977304785	.	.	0.0001	0	0	0	0.0006	0.0002	0	0	2.59e-05	4	154602	rs868560707	0.0003	0.0058	0.0003	0.0002	0.0007	0.0002	0.0002	0.0004	0.0003	0.0004	0.0003	0.0003	0.0006	0.0005	0.0007	0.0002	0.0006	8.471e-05	0.0004	0.0066	0.0005	0.0003	0.0005	0.0003	0.0002	0.0004	0.0003	0.0002	0	0.0005	0.0007	0	0.0001	0	0.0005	0.0007	0	0.046	0.40573	D	0.092	0.40110	T	.	.	.	.	.	.	.	.	.	.	1	0.25888	N	.	.	.	1.63	0.28002	T	-0.65	0.18877	N	0.074	0.04790	-0.9984	0.30367	T	0.034	0.14639	T	7	0.04676366	0.03908	T	0.00362	0.08309	T	0.017	0.02790	0.218	0.13932	0.0138822411134	0.00435	4.811599441479893E-5	0.00003	.	.	0.538040757179	0.44169	T	.	.	.	-0.406046	0.02112	T	-0.821033	0.01432	T	0.0261067225224835	0.01420	T	0.627737	0.24333	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.16886	B	.;.	.;.	1.127292	0.15138	11.62	0.96387718866879646	0.29640	0.00081	0.00551	N	AEFBI	0.043696	0.06939	N	-1.31332560996001	0.03522	0.1574579	-1.42243953303557	0.03029	0.1405056	1.19599416723631E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-2.089000	0.01445	-2.543000	0.03628	0.174000	0.17776	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5833:0.4166:0.0	4.544	0.11475	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1562	635.54	526	chr3	195783119	.	C	T,*	635.54	.	AC=2,4;AF=0.063,0.125;AN=32;BaseQRankSum=2.58;DP=7561;ExcessHet=0.1688;FS=2.903;InbreedingCoeff=0.1971;MLEAC=2,5;MLEAF=0.063,0.156;MQ=57.40;MQRankSum=-2.830e+00;QD=0.31;ReadPosRankSum=0.652;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:297,0,0:297:0:.:.:0,0,5302,0,5302,5302	11	0	1	5
chr3	195783119	195783119	C	0	exonic	MUC4	.	.	.	.	.	523	945	13	20	21	74	0.0272774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	635.54	526	chr3	195783119	.	C	T,*	635.54	.	AC=2,4;AF=0.063,0.125;AN=32;BaseQRankSum=2.58;DP=7561;ExcessHet=0.1688;FS=2.903;InbreedingCoeff=0.1971;MLEAC=2,5;MLEAF=0.063,0.156;MQ=57.40;MQRankSum=-2.830e+00;QD=0.31;ReadPosRankSum=0.652;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:297,0,0:297:0:.:.:0,0,5302,0,5302,5302	11	0	1	5
chr3	195783242	195783242	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G8338A:p.G2780S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.618	P	0.063	B	.	.	1.000	N	0.55	N	1.47	T	-1.042	T	0.029	T	0.081	0.622	7.348	-0.144	0.489	.	1.611	0.022	0.00122809884465	.	.	0.0008	0	0	0	0	9.664e-05	0.0038	0.0021	0.0001358	21	154602	rs536238818	0.0001	0.0001	6.115e-05	0.0002	0.0019	0.0001	0.0001	0.0016	0.0015	3.759e-05	8.763e-05	0	0	0	0.0005	6.861e-06	0.0001	0.0019	1.429e-05	5.481e-05	1.396e-05	1.464e-05	7.019e-05	2.38e-06	8.9e-07	.	.	0	0	7.019e-05	0	0	0	0	1.593e-05	0	0	0.169	0.22920	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.47	0.33412	T	0.33	0.04613	N	0.093	0.07262	-1.0419	0.16741	T	0.029	0.12278	T	8	0.009252012	0.00209	T	0.001228	0.01633	T	0.022	0.04323	0.153	0.05648	0.0138822411134	0.00435	3.0227420646961545E-5	0.00003	.	.	0.506970524788	0.39799	T	.	.	.	-0.345355	0.05026	T	-0.733855	0.04155	T	0.0441426576477864	0.04446	T	0.890111	0.62362	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.27161	B	.;.	.;.	1.095771	0.14797	11.34	0.90486419032875898	0.19744	0.00123	0.00769	N	AEFBI	0.065956	0.12892	N	-0.962626784614436	0.09410	0.4452841	-1.10170593931989	0.07667	0.3738782	1.17643254487232E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.02	-0.144	0.12783	-3.121000	0.00656	-3.164000	0.03006	0.182000	0.17807	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.3349:0.3894:0.0:0.2756	1.611	0.02531	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	6339.26	451	chr3	195783242	.	C	T	6339.26	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.19;DP=5559;ExcessHet=0.0000;FS=9.239;InbreedingCoeff=0.9037;MLEAC=2;MLEAF=0.048;MQ=56.70;MQRankSum=2.87;QD=28.81;ReadPosRankSum=0.756;SOR=0.490	GT:AD:DP:GQ:PL	0/0:474,0:474:99:0,120,1800	20	1	0	0
chr3	195783263	195783263	-	GGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTC	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.8316_8317insGACACTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCCTGTCACCAACACTTCCTCAGTATCCACAGGTCACGCCACCCCTCTTCCTGTCACC:p.T2772_N2773insDTSSASTGHATPLPVTNTSSVSTGHATPLPVT,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.522e-06	6.603e-06	3.558e-06	5.519e-06	0.0002	1.33e-06	9.6e-07	6.887e-05	4.053e-05	0.0002	0	0	0	0	0	0	2.297e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	765.16	451	chr3	195783263	.	T	TGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTC	765.16	.	AC=1;AF=0.028;AN=36;DP=5617;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0687;MLEAC=1;MLEAF=0.028;MQ=53.09;QD=27.81;SOR=3.258	GT:AD:DP:GQ:PL	./.:633,0:633:0:0,0,14462	17	0	1	3
chr3	195783308	195783308	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A8272G:p.T2758A,	.	.	428	1075	2	1	16	20	0.00185701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	B	0.001	B	.	.	1.000	N	0	N	1.58	T	-1.014	T	0.028	T	0.048	0.284	5.535	-1.37	-1.634	-0.220	2.229	0.010	0.00116770125284	.	.	0.0005	0.0024	0.0023	0	0	0.0004	0	0.0004	3.84e-05	1	26028	rs1219089535	0.0002	0.0010	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	6.351e-05	0.0001	0.0002	4.578e-05	0.0003	0.0002	0.0002	4.172e-05	0.0004	0.0023	0.0003	0.0005	0.0008	0.0003	0.0002	0.0005	0.0004	0.0008	0	0.0004	0	0.0004	0	0.0104	0.0003	0	0	0.329	0.13175	T	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.54	0.30133	T	-0.18	0.13418	N	0.013	0.00142	-1.0140	0.25656	T	0.028	0.12014	T	8	0.012935221	0.00276	T	0.001168	0.01484	T	0.010	0.01040	.	.	0.0138822411134	0.00435	2.5889544791019455E-5	0.00002	.	.	0.527253031731	0.42647	T	.	.	.	-0.42796	0.01525	T	-0.852512	0.00928	T	0.0107283737386794	0.00151	T	0.375462	0.08961	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.02829	B	.;.	.;.	0.203188	0.05879	2.317	0.6578800018455504	0.07872	0.00109	0.00694	N	AEFBI	0.039047	0.05616	N	-1.84724035622617	0.00440	0.01890782	-1.9207615658682	0.00445	0.01969931	1.52227916298095E-4	0.05650	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.02	-1.37	0.08582	-5.463000	0.00144	-6.340000	0.01426	-1.678000	0.00790	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2384:0.3308:0.0:0.4308	2.229	0.03747	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	48.52	349	chr3	195783308	.	T	C	48.52	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.041e+00;DP=4459;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0449;MLEAC=1;MLEAF=0.025;MQ=57.13;MQRankSum=-8.664e+00;QD=0.36;ReadPosRankSum=0.929;SOR=0.803	GT:AD:DP:GQ:PL	0/0:517,0:517:99:0,120,1800	19	0	1	1
chr3	195783319	195783319	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C8261T:p.P2754L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	B	0.002	B	.	.	1.000	N	0.55	N	1.52	T	-1.004	T	0.036	T	0.042	0.147	4.788	.	0.073	0.391	3.251	0.007	0.00248915785875	.	.	5.116e-05	0.0007	0	0	0	0	0	0	0.0001537	4	26028	rs377218971	3.941e-05	0.0003	3.813e-05	4.072e-05	0.0003	3.046e-05	2.754e-05	0.0002	0.0001	6.959e-05	0.0003	8.772e-05	3.298e-05	4.486e-05	0.0003	2.789e-05	7.567e-05	1.341e-05	8.02e-05	0.0008	6.954e-05	9.141e-05	9.672e-05	4.165e-05	3.124e-05	3.779e-05	2.449e-05	6.957e-05	0	9.111e-05	0	0	0.0001	0	9.672e-05	0	0	0.01	0.56456	D	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.52	0.31731	T	0.03	0.13226	N	0.036	0.07673	-1.0044	0.28636	T	0.036	0.15683	T	7	0.03291303	0.01453	T	0.002489	0.04953	T	0.007	0.00512	.	.	0.0954503805726	0.09146	2.5352474446950437E-5	0.00002	.	.	0.540446281433	0.44508	T	.	.	.	-0.349383	0.04766	T	-0.739641	0.03906	T	0.0293901517083702	0.01897	T	0.756024	0.37907	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.22464	B	.;.	.;.	1.984700	0.25217	16.68	0.68429454157064806	0.08656	0.00354	0.01821	N	AEFBI	0.057268	0.10653	N	-1.23382303094891	0.04517	0.2040384	-1.34455204611901	0.03870	0.1814309	1.44252550070371E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	0.275000	0.18461	1.159000	0.24539	0.133000	0.17659	0.000000	0.06391	0.001000	0.17328	0.029000	0.12982	0.3592:0.0:0.6408:0.0	3.251	0.06413	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.075	1408.99	349	chr3	195783319	.	GGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAA	G,AGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAA	1408.99	.	AC=2,1;AF=0.050,0.025;AN=40;BaseQRankSum=2.84;DP=4474;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.4738;MLEAC=2,1;MLEAF=0.050,0.025;MQ=53.04;MQRankSum=-1.680e+00;QD=29.35;ReadPosRankSum=1.74;SOR=1.421	GT:AD:DP:GQ:PL	0/0:517,0,0:517:99:0,120,1800,120,1800,1800	18	1	0	1
chr3	195783321	195783321	A	0	exonic	MUC4	.	.	.	.	.	442	1046	17	2	15	36	0.00993848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1538	2018.88	349	chr3	195783321	.	A	C,*	2018.88	.	AC=1,3;AF=0.038,0.115;AN=26;BaseQRankSum=-6.330e-01;DP=4536;ExcessHet=0.0090;FS=0.891;InbreedingCoeff=0.1362;MLEAC=1,3;MLEAF=0.038,0.115;MQ=56.98;MQRankSum=1.48;QD=4.67;ReadPosRankSum=-7.920e-01;SOR=0.754	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:510,0,0:510:0:.:.:0,0,2221,0,2221,2221	10	0	1	8
chr3	195783323	195783323	G	0	exonic	MUC4	.	.	.	.	.	0	218	3	0	5	8	0.00683371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1538	2117.88	340	chr3	195783323	.	G	C,*	2117.88	.	AC=1,3;AF=0.038,0.115;AN=26;BaseQRankSum=-4.523e+00;DP=4466;ExcessHet=0.0090;FS=0.000;InbreedingCoeff=0.1362;MLEAC=1,3;MLEAF=0.038,0.115;MQ=57.00;MQRankSum=1.65;QD=4.87;ReadPosRankSum=0.527;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:498,0,0:498:0:.:.:0,0,2401,0,2401,2401	10	0	1	8
chr3	195783326	195783470	GGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATGATGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGTGTCACCTGTGTATGCTGAGGAAGTGTCGGTGACAGGAAGAGA	0	exonic	MUC4	.	.	.	.	.	434	1017	25	28	18	99	0.0382979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1673.38	262	chr3	195783326	.	GGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATGATGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGTGTCACCTGTGTATGCTGAGGAAGTGTCGGTGACAGGAAGAGA	G,*	1673.38	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=0.756;DP=3915;ExcessHet=0.0082;FS=28.612;InbreedingCoeff=0.3997;MLEAC=1,3;MLEAF=0.024,0.071;MQ=54.54;MQRankSum=1.49;QD=8.16;ReadPosRankSum=4.44;SOR=2.081	GT:AD:DP:GQ:PL	0/0:425,0,0:425:99:0,120,1800,120,1800,1800	18	0	1	0
chr3	195783327	195783327	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	108.87	262	chr3	195783327	.	G	*,A	108.87	.	AC=4,1;AF=0.100,0.025;AN=40;BaseQRankSum=0.136;DP=3801;ExcessHet=0.0000;FS=25.966;InbreedingCoeff=0.6901;MLEAC=4,1;MLEAF=0.100,0.025;MQ=54.18;MQRankSum=2.52;QD=0.43;ReadPosRankSum=1.79;SOR=1.790	GT:AD:DP:GQ:PL	0/0:425,0,0:425:99:0,120,1800,120,1800,1800	17	1	1	1
chr3	195783332	195783332	T	0	exonic	MUC4	.	.	.	.	.	445	998	16	0	63	79	0.00795229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	240.71	262	chr3	195783332	.	T	*,C	240.71	.	AC=4,1;AF=0.111,0.028;AN=36;BaseQRankSum=-1.199e+00;DP=3639;ExcessHet=0.0000;FS=34.661;InbreedingCoeff=0.6077;MLEAC=5,1;MLEAF=0.139,0.028;MQ=52.86;MQRankSum=0.066;QD=0.96;ReadPosRankSum=-1.151e+00;SOR=1.972	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:425,0,0:425:99:.:.:0,120,1800,120,1800,1800	15	1	1	3
chr3	195783335	195783335	C	0	exonic	MUC4	.	.	.	.	.	452	969	39	0	62	101	0.0197269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	159.71	262	chr3	195783335	.	C	G,*	159.71	.	AC=1,4;AF=0.028,0.111;AN=36;BaseQRankSum=0.00;DP=3593;ExcessHet=0.0000;FS=18.458;InbreedingCoeff=0.6077;MLEAC=1,5;MLEAF=0.028,0.139;MQ=52.45;MQRankSum=1.21;QD=0.49;ReadPosRankSum=1.07;SOR=1.399	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:425,0,0:425:99:.:.:0,120,1800,120,1800,1800	15	0	0	3
chr3	195783346	195783346	A	0	exonic	MUC4	.	.	.	.	.	1082	70	139	167	64	537	0.771615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	13623.42	256	chr3	195783346	.	A	*,G	13623.42	.	AC=4,7;AF=0.286,0.500;AN=14;BaseQRankSum=1.28;DP=3337;ExcessHet=1.1394;FS=1.217;InbreedingCoeff=0.2429;MLEAC=9,15;MLEAF=0.643,1.00;MQ=53.18;MQRankSum=1.23;QD=15.80;ReadPosRankSum=1.52;SOR=1.069	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:420,0,0:420:0:.:.:0,0,0,0,0,0	0	1	1	14
chr3	195783357	195783357	C	0	exonic	MUC4	.	.	.	.	.	804	505	66	83	64	296	0.186795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	9429.56	210	chr3	195783357	.	C	G,*	9429.56	.	AC=5,4;AF=0.357,0.286;AN=14;BaseQRankSum=-3.000e-03;DP=3094;ExcessHet=0.0000;FS=5.746;InbreedingCoeff=0.3636;MLEAC=10,8;MLEAF=0.714,0.571;MQ=49.14;MQRankSum=1.46;QD=23.75;ReadPosRankSum=-1.441e+00;SOR=1.550	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:395,0,0:395:0:.:.:0,0,3537,0,3537,3537	2	2	1	14
chr3	195783367	195783367	A	0	exonic	MUC4	.	.	.	.	.	717	615	72	57	61	247	0.131356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6902.99	178	chr3	195783367	.	A	G,*	6902.99	.	AC=5,2;AF=0.357,0.143;AN=14;BaseQRankSum=1.84;DP=2929;ExcessHet=0.0000;FS=11.888;InbreedingCoeff=0.3056;MLEAC=10,4;MLEAF=0.714,0.286;MQ=46.46;MQRankSum=1.24;QD=30.54;ReadPosRankSum=1.51;SOR=1.789	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:362,0,0:362:0:.:.:0,0,5164,0,5164,5164	3	2	1	14
chr3	195783415	195783415	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C8165A:p.P2722H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	0.345	N	1.48	T	-1.002	T	0.032	T	0.054	-0.998	0.263	-1.38	0.489	-0.253	1.629	0.014	0.000511194972926	.	.	0.0003	0	0	0.0029	0	0.0004	0	0	.	.	.	rs757915947	0.0003	0.0003	0.0003	0.0003	0.0033	0.0003	0.0003	0.0027	0.0025	0	0	0.0010	0.0033	0.0008	0.0006	7.44e-05	0.0006	0.0002	3.194e-05	0.0004	0	6.51e-05	0.0006	0	0	.	.	0	0	0	0	0.0006	0	0	0	0	0	0.189	0.23997	T	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.20292	N	.	.	.	1.48	0.31987	T	-0.42	0.20358	N	0.096	0.07673	-1.0016	0.29459	T	0.032	0.13898	T	6	0.010089844	0.00226	T	5.11E-4	0.00163	T	0.014	0.01968	0.19	0.10039	0.0297737177859	0.01360	8.704670884257128E-5	0.00007	.	.	0.542042016983	0.44734	T	.	.	.	-0.341949	0.05253	T	-0.728962	0.04374	T	0.0409642838981407	0.03865	T	0.587141	0.21465	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.33319	B	.;.	.;.	1.363002	0.17722	13.33	0.3891870080358984	0.02654	0.00088	0.00587	N	AEFBI	0.034961	0.04420	N	-0.933277390823719	0.10070	0.4795295	-1.12522507782047	0.07221	0.3504127	1.81192519909741E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.02	-1.38	0.08554	-3.524000	0.00493	-1.108000	0.06307	0.061000	0.17545	0.000000	0.06391	0.001000	0.17328	0.013000	0.09966	0.2797:0.0:0.3924:0.3279	1.629	0.02564	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.06667	577.51	37	chr3	195783415	.	G	T	577.51	.	AC=2;AF=0.067;AN=30;BaseQRankSum=2.55;DP=1250;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.7044;MLEAC=3;MLEAF=0.100;MQ=44.25;MQRankSum=0.829;QD=23.10;ReadPosRankSum=0.150;SOR=0.749	GT:AD:DP:GQ:PL	0/0:116,0:116:99:0,120,1800	14	1	0	6
chr3	195783456	195783599	GGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.7981_8124del:p.S2661_T2708del,	.	.	589	869	23	27	14	91	0.0424242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0246	0.0067	0.0367	0.0512	0.0233	0.0302	0.0205	0.0203	.	.	.	.	0.0078	0.0085	0.0073	0.0084	0.0160	0.0077	0.0076	0.0125	0.0120	0.0045	0.0137	0.0177	0.0116	0.0067	0.0160	0.0069	0.0107	0.0117	0.0011	0.0014	0.0007	0.0015	0.0043	0.0005	0.0003	0.0006	0.0004	0	0	0	0	0.0043	0	0	0.0016	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2109.73	37	chr3	195783455	.	CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT	C,*	2109.73	.	AC=1,2;AF=0.028,0.056;AN=36;BaseQRankSum=3.04;DP=860;ExcessHet=0.0000;FS=7.159;InbreedingCoeff=0.5173;MLEAC=1,2;MLEAF=0.028,0.056;MQ=46.14;MQRankSum=1.82;QD=12.06;ReadPosRankSum=-4.328e+00;SOR=0.317	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:53,97,0:150:99:.:.:2122,0,1778,2283,1992,4275	16	0	1	3
chr3	195783455	195783599	CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT	0	exonic	MUC4	.	.	.	.	.	589	869	23	27	14	91	0.0424242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2109.73	37	chr3	195783455	.	CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT	C,*	2109.73	.	AC=1,2;AF=0.028,0.056;AN=36;BaseQRankSum=3.04;DP=860;ExcessHet=0.0000;FS=7.159;InbreedingCoeff=0.5173;MLEAC=1,2;MLEAF=0.028,0.056;MQ=46.14;MQRankSum=1.82;QD=12.06;ReadPosRankSum=-4.328e+00;SOR=0.317	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:53,97,0:150:99:.:.:2122,0,1778,2283,1992,4275	16	0	1	3
chr3	195783613	195783613	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C7967T:p.P2656L,	.	.	732	788	2	0	0	2	0.00126743	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	0	N	1.43	T	-1.014	T	0.037	T	0.053	-0.600	1.318	1.02	0.489	-0.045	4.284	0.011	0.00039800219104	.	.	0	0	0	0	0	0	0	0	.	.	.	rs780266523	0.0011	0.0008	0.0005	0.0016	0.0099	0.0010	0.0010	0.0091	0.0088	0	0	8.413e-05	0	0	0	9.728e-06	0.0006	0.0099	0	5.902e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.079	0.33753	T	0.063	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.43	0.33630	T	-0.17	0.13226	N	0.049	0.03956	-1.0143	0.25561	T	0.037	0.15986	T	6	0.0345397	0.01665	T	3.98E-4	0.00071	T	0.011	0.01250	0.159	0.06287	0.144782658237	0.14088	4.947519551632745E-4	0.00045	.	.	0.511744916439	0.40465	T	.	.	.	-0.356871	0.04309	T	-0.750397	0.03470	T	0.0429514167564585	0.04229	T	0.689931	0.29934	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.29995	B	.;.	.;.	1.443564	0.18632	13.84	0.27821969667128038	0.01399	0.00497	0.02345	N	AEFBI	0.062114	0.11920	N	-0.905250438721098	0.10718	0.5135698	-1.05993834615037	0.08501	0.4182759	1.56210366471235E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.02	1.02	0.19102	-0.811000	0.04607	0.900000	0.22542	0.061000	0.17545	0.001000	0.13787	0.008000	0.19753	0.023000	0.12082	0.0:0.0:0.6095:0.3905	4.284	0.10294	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	340.57	7	chr3	195783613	.	G	A	340.57	.	AC=1;AF=0.031;AN=32;BaseQRankSum=3.38;DP=195;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.0006;MLEAC=1;MLEAF=0.031;MQ=39.43;MQRankSum=0.069;QD=16.22;ReadPosRankSum=-3.065e+00;SOR=0.610	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:91:.:.:0,91,1441	15	0	1	5
chr3	195783655	195783655	A	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.T7925A:p.L2642H,	.	.	790	731	1	0	0	1	0.000683527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	0	N	1.42	T	-1.040	T	0.032	T	0.082	-0.780	0.732	-1.7	-1.773	0.094	2.530	0.024	0.000303125970761	.	.	0	0	.	.	0	0	.	.	3.84e-05	1	26028	rs192630598	0.0015	0.0004	0.0009	0.0020	0.0092	0.0013	0.0012	0.0078	0.0073	0	0.0002	0	0	0	0	4.682e-05	0.0013	0.0092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.24183	T	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.42	0.34253	T	-0.27	0.11913	N	0.107	0.11626	-1.0398	0.17374	T	0.032	0.13767	T	6	0.0053348243	0.00117	T	3.03E-4	0.00024	T	0.024	0.04979	.	.	0.0666544352282	0.05500	2.908993320029229E-4	0.00026	.	.	0.534727215767	0.43700	T	.	.	.	-0.348029	0.04853	T	-0.737696	0.03988	T	0.0181695993951375	0.00538	T	0.522848	0.17081	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.18080	B	.;.	.;.	0.650107	0.10185	6.926	0.3021077997740888	0.01641	0.00267	0.01455	N	AEFBI	0.068812	0.13590	N	-1.53575144487756	0.01619	0.07080196	-1.7098600917551	0.01094	0.04916396	7.18889605311784E-5	0.04552	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.02	-1.7	0.07721	-1.313000	0.02826	-0.767000	0.07511	-1.316000	0.01230	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5002:0.2749:0.2248:0.0	2.530	0.04416	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05	85.97	5	chr3	195783655	.	A	T	85.97	.	AC=1;AF=0.050;AN=20;BaseQRankSum=-1.138e+00;DP=142;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1538;MLEAC=2;MLEAF=0.100;MQ=39.21;MQRankSum=0.696;QD=6.14;ReadPosRankSum=-2.185e+00;SOR=0.105	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:92:.:.:0,92,1568	9	0	1	11
chr3	195783855	195783902	GGTGGCGTGACCTGTGGATGCTGCGGAAGTGTCGGTGACAGGAAGAGA	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.7678_7725del:p.S2560_T2575del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0031	0.0330	0	0	0.0006	0.0003	0.0042	0	3.84e-05	1	26028	rs763999230	4.332e-05	8.04e-05	5.219e-05	3.421e-05	0.0015	3.411e-05	3.123e-05	0.0012	0.0011	0.0015	5.88e-05	0	5.86e-05	0	0	4.747e-06	7.095e-05	0	0.0003	0.0017	0.0003	0.0003	0.0009	0.0002	0.0002	0.0007	0.0006	0.0009	0	0.0004	0	0	0	0	4.467e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	5427.29	398	chr3	195783854	.	GGGTGGCGTGACCTGTGGATGCTGCGGAAGTGTCGGTGACAGGAAGAGA	G	5427.29	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.90;DP=8369;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=49.93;MQRankSum=-6.836e+00;QD=27.41;ReadPosRankSum=0.340;SOR=0.747	GT:AD:DP:GQ:PL	0/0:524,0:524:99:0,120,1800	19	0	1	1
chr3	195783860	195783860	C	0	exonic	MUC4	.	.	.	.	.	448	1004	55	12	3	82	0.0378534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	7916.98	398	chr3	195783860	.	C	T,*	7916.98	.	AC=2,1;AF=0.050,0.025;AN=40;BaseQRankSum=2.35;DP=8280;ExcessHet=0.0000;FS=1.126;InbreedingCoeff=0.6396;MLEAC=2,1;MLEAF=0.050,0.025;MQ=54.70;MQRankSum=5.03;QD=19.79;ReadPosRankSum=0.856;SOR=0.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:524,0,0:524:99:.:.:0,120,1800,120,1800,1800	18	1	0	1
chr3	195783861	195783861	G	0	exonic	MUC4	.	.	.	.	.	560	460	486	7	9	509	0.352113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4333	81944.7	385	chr3	195783861	.	G	A,*	81944.7	.	AC=12,1;AF=0.400,0.033;AN=30;BaseQRankSum=1.06;DP=8683;ExcessHet=15.1749;FS=1.128;InbreedingCoeff=-0.5646;MLEAC=15,1;MLEAF=0.500,0.033;MQ=54.05;MQRankSum=-8.970e-01;QD=13.98;ReadPosRankSum=0.513;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:330,131,0:461:99:0|1:195783836_T_G:4529,0,13355,5522,13857,19379:195783836	2	0	12	6
chr3	195783874	195783874	G	0	exonic	MUC4	.	.	.	.	.	665	374	471	9	3	492	0.395311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	83273.27	394	chr3	195783874	.	G	A,*	83273.27	.	AC=12,1;AF=0.353,0.029;AN=34;BaseQRankSum=-2.313e+00;DP=8997;ExcessHet=13.8672;FS=1.132;InbreedingCoeff=-0.5289;MLEAC=14,1;MLEAF=0.412,0.029;MQ=54.92;MQRankSum=-5.830e-01;QD=13.63;ReadPosRankSum=3.00;SOR=0.792	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:337,127,0:464:99:0|1:195783836_T_G:4407,0,13628,5421,14151,19572:195783836	4	0	12	4
chr3	195783878	195783878	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5278	158236.0	363	chr3	195783878	.	C	A,CGGAAGTGTCGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGA,*,CGGAAGTGTTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGA	158236.0	.	AC=12,7,1,1;AF=0.333,0.194,0.028,0.028;AN=36;BaseQRankSum=1.84;DP=9624;ExcessHet=8.7202;FS=1.793;InbreedingCoeff=-0.4053;MLEAC=13,7,1,1;MLEAF=0.361,0.194,0.028,0.028;MQ=55.02;MQRankSum=-2.778e+00;QD=22.89;ReadPosRankSum=-4.840e-01;SOR=0.836	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:213,196,0,0,0:409:99:.:.:16273,0,7382,14655,8656,22865,14655,8656,22865,22865,14655,8656,22865,22865,22865	1	1	9	3
chr3	195783889	195783889	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	6244.38	434	chr3	195783889	.	G	*,GT	6244.38	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=-9.770e-01;DP=9025;ExcessHet=0.1128;FS=0.000;InbreedingCoeff=-0.0526;MLEAC=1,1;MLEAF=0.025,0.025;MQ=55.94;MQRankSum=3.33;QD=8.45;ReadPosRankSum=2.72;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:624,0,0:624:99:.:.:0,120,1800,120,1800,1800	18	0	1	1
chr3	195783889	195783889	-	T	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.7690dupA:p.T2564Nfs*26	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0005	0	0	0.0017	0.0001	0	0	3.88e-05	6	154602	rs775414158	0.0001	0.0002	0.0001	0.0001	0.0016	0.0001	0.0001	0.0012	0.0011	0	2.937e-05	0	0.0016	0.0010	0.0005	6.342e-05	0.0002	0.0002	0.0001	0.0001	6.709e-05	0.0002	8.849e-05	6.771e-05	5.533e-05	3.772e-05	2.582e-05	0	0	0	0	0	0.0009	0	8.849e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	6244.38	434	chr3	195783889	.	G	*,GT	6244.38	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=-9.770e-01;DP=9025;ExcessHet=0.1128;FS=0.000;InbreedingCoeff=-0.0526;MLEAC=1,1;MLEAF=0.025,0.025;MQ=55.94;MQRankSum=3.33;QD=8.45;ReadPosRankSum=2.72;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:624,0,0:624:99:.:.:0,120,1800,120,1800,1800	18	0	1	1
chr3	195783891	195783891	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	105790.68	446	chr3	195783891	.	G	A,*	105790.68	.	AC=14,1;AF=0.368,0.026;AN=38;BaseQRankSum=-3.408e+00;DP=9538;ExcessHet=18.9861;FS=1.113;InbreedingCoeff=-0.6327;MLEAC=15,1;MLEAF=0.395,0.026;MQ=55.85;MQRankSum=1.36;QD=13.99;ReadPosRankSum=1.52;SOR=0.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:452,216,0:668:99:1|0:195783836_T_G:7479,0,18251,8839,18901,27741:195783836	4	0	14	2
chr3	195783896	195783896	-	AAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGAGGAAGTGTCGGTGACAGA	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.7683_7684insTCTGTCACCGACACTTCCTCAGTATCCACAGGTCATGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACCGGTCACGCCACCCCTCTT:p.L2561_P2562insSVTDTSSVSTGHATPLHVTSPSSASTGHATPL	.	.	442	951	27	0	102	129	0.0139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0034	0.0029	0.0045	0	0	0.0049	0.0090	0.0027	0.0004916	76	154602	.	0.0040	0.0071	0.0039	0.0042	0.0239	0.0039	0.0039	0.0196	0.0180	0.0026	0.0060	0.0070	0	0.0071	0.0239	0.0037	0.0065	0.0041	0.0018	0.0063	0.0021	0.0015	0.0024	0.0016	0.0015	0.0021	0.0020	0.0010	0.0026	0.0024	0.0003	0	0.0015	0	0.0024	0.0012	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	9982.69	409	chr3	195783896	.	G	GAAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGAGGAAGTGTCGGTGACAGA,*	9982.69	.	AC=2,1;AF=0.053,0.026;AN=38;BaseQRankSum=-2.121e+00;DP=9293;ExcessHet=0.3476;FS=2.026;InbreedingCoeff=-0.0959;MLEAC=2,1;MLEAF=0.053,0.026;MQ=55.57;MQRankSum=-7.121e+00;QD=9.97;ReadPosRankSum=-6.922e+00;SOR=0.889	GT:AD:DP:GQ:PL	0/1:451,17,0:468:99:1790,0,18576,2278,18807,24950	16	0	2	2
chr3	195783896	195783896	G	0	exonic	MUC4	.	.	.	.	.	442	951	27	0	102	129	0.0139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	9982.69	409	chr3	195783896	.	G	GAAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGAGGAAGTGTCGGTGACAGA,*	9982.69	.	AC=2,1;AF=0.053,0.026;AN=38;BaseQRankSum=-2.121e+00;DP=9293;ExcessHet=0.3476;FS=2.026;InbreedingCoeff=-0.0959;MLEAC=2,1;MLEAF=0.053,0.026;MQ=55.57;MQRankSum=-7.121e+00;QD=9.97;ReadPosRankSum=-6.922e+00;SOR=0.889	GT:AD:DP:GQ:PL	0/1:451,17,0:468:99:1790,0,18576,2278,18807,24950	16	0	2	2
chr3	195783902	195783902	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	124896.55	459	chr3	195783902	.	A	G,*	124896.55	.	AC=15,1;AF=0.417,0.028;AN=36;BaseQRankSum=-2.830e-01;DP=9618;ExcessHet=25.4433;FS=0.524;InbreedingCoeff=-0.7101;MLEAC=17,1;MLEAF=0.472,0.028;MQ=56.37;MQRankSum=0.323;QD=15.45;ReadPosRankSum=-3.430e-01;SOR=0.640	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:390,220,0:610:99:1|0:195783836_T_G:7977,0,15585,9151,16247,25398:195783836	2	0	15	3
chr3	195784025	195784025	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C7555T:p.P2519S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	B	0.0	B	.	.	1.000	N	-0.55	N	1.49	T	-0.980	T	0.025	T	0.065	0.517	6.803	.	0.406	-2.238	4.826	0.048	0.0038402644759	.	.	4.36e-05	0	0	0	0	0.0001	0	0	0.0001537	4	26028	rs747010184	4.51e-05	0.0006	3.62e-05	5.423e-05	0.0007	3.551e-05	3.252e-05	0.0005	0.0004	0.0004	0.0002	0	0.0007	0	0	1.471e-05	5.64e-05	6.768e-05	0.0014	0.0095	0.0014	0.0013	0.0036	0.0011	0.0010	0.0016	0.0015	0.0021	0.0034	0.0009	0	0.0031	0.0019	0.0104	0.0006	0.0011	0.0036	0.84	0.03764	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.20950	N	.	.	.	1.49	0.31987	T	-0.23	0.13805	N	0.086	0.06322	-0.9804	0.34909	T	0.025	0.10553	T	7	0.022705257	0.00574	T	0.00384	0.08992	T	0.048	0.13305	.	.	0.0138822411134	0.00435	1.6979685493259037E-5	0.00001	.	.	0.528413772583	0.42810	T	.	.	.	-0.379433	0.03142	T	-0.782805	0.02370	T	0.00959062460587228	0.00124	T	0.694731	0.30434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00114	B	.;.	.;.	0.263569	0.06420	2.887	0.95936805272340686	0.28230	0.00271	0.01473	N	AEFBHCI	0.040527	0.06039	N	-1.42781015136646	0.02397	0.1057987	-1.50061931998053	0.02340	0.107472	1.16301632010338E-5	0.02871	0.615465	0.37627	0	0.657636	0.61667	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-4.333000	0.00287	-0.470000	0.08985	-1.958000	0.00478	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.3981:0.6019:0.0	4.826	0.12782	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.03125	89.16	477	chr3	195784025	.	G	A	89.16	.	AC=1;AF=0.031;AN=32;BaseQRankSum=6.05;DP=10211;ExcessHet=0.0000;FS=17.136;InbreedingCoeff=-0.0966;MLEAC=1;MLEAF=0.031;MQ=58.37;MQRankSum=-1.516e+01;QD=0.22;ReadPosRankSum=-5.553e+00;SOR=2.619	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:687,0:687:0:.:.:0,0,16048	15	0	1	5
chr3	195784027	195784027	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C7553T:p.T2518I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.959	N	0.55	N	1.59	T	-1.002	T	0.044	T	0.062	0.331	5.794	.	0.406	2.106	.	0.025	0.00215793287382	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1448957081	2.182e-06	1.174e-05	2.871e-06	1.474e-06	0.0002	5.8e-07	1.6e-07	.	.	0	2.866e-05	0	0	0	0.0002	9.397e-07	0	0	6.834e-06	0.0003	1.341e-05	0	1.475e-05	0	0	.	.	0	0	0	0	0	0	0	1.475e-05	0	0	0.011	0.55530	D	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.26200	N	.	.	.	1.48	0.31731	T	-0.18	0.15379	N	0.193	0.21188	-1.0021	0.29313	T	0.044	0.19111	T	4	0.07086381	0.10367	T	0.002158	0.04043	T	0.025	0.05312	0.152	0.05544	0.0297737177859	0.01360	4.191902890631022E-5	0.00003	.	.	0.557074069977	0.46855	T	.	.	.	-0.315136	0.07304	T	-0.690447	0.06363	T	0.0737741203433262	0.09171	T	0.818818	0.47619	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.25882	B	.;.	.;.	1.856150	0.23579	16.07	0.82942276593910702	0.14457	0.02268	0.06552	N	AEFBHCI	0.090879	0.18412	N	-0.855805620920088	0.11908	0.5773473	-1.0589282935245	0.08521	0.4193998	1.27526553995138E-5	0.02871	0.615465	0.37627	0	0.657636	0.61667	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	0.869000	0.27648	-1.682000	0.04924	0.061000	0.17545	0.001000	0.13787	0.000000	0.08366	0.006000	0.07323	.	.	.	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	66.42	477	chr3	195784027	.	G	A	66.42	.	AC=1;AF=0.025;AN=40;BaseQRankSum=4.77;DP=10221;ExcessHet=0.0000;FS=17.246;InbreedingCoeff=-0.0422;MLEAC=1;MLEAF=0.025;MQ=58.43;MQRankSum=-1.529e+01;QD=0.16;ReadPosRankSum=-5.737e+00;SOR=2.616	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:687,0:687:0:.:.:0,0,16048	19	0	1	1
chr3	195784028	195784028	T	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A7552C:p.T2518P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.951	N	0.55	N	1.47	T	-1.002	T	0.040	T	0.093	0.549	6.969	.	0.000	-3.351	4.476	0.034	0.00187458634169	.	.	.	.	.	.	.	.	.	.	.	.	.	rs769237222	0	1.255e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.236e-05	0.0007	2.779e-05	5.742e-05	4.534e-05	1.125e-05	6.12e-06	.	.	4.534e-05	0	0	0	0	0.0003	0	3.22e-05	0	0	0.022	0.48642	D	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	0.999999	0.26487	N	.	.	.	1.43	0.32958	T	-0.25	0.12847	N	0.19	0.20793	-1.0024	0.29226	T	0.040	0.17362	T	5	0.09326932	0.16492	T	0.001875	0.03272	T	0.034	0.08419	.	.	0.0138822411134	0.00435	9.570868951999214E-6	0.00000	.	.	0.545766234398	0.45260	T	.	.	.	-0.331828	0.05974	T	-0.714424	0.05069	T	0.0608508865891481	0.07302	T	0.459554	0.13284	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.15609	B	.;.	.;.	1.225052	0.16193	12.38	0.50344893599565799	0.04368	0.01288	0.04488	N	AEFBHCI	0.154413	0.27944	N	-1.05168543983753	0.07554	0.3513302	-1.26713363319745	0.04882	0.2313715	1.36265087646247E-5	0.02871	0.615465	0.37627	0	0.657636	0.61667	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-2.063000	0.01476	-2.785000	0.03363	-2.498000	0.00264	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:8.0E-4:0.0:0.9992	4.476	0.11155	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	33.79	477	chr3	195784028	.	T	G	33.79	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.76;DP=10232;ExcessHet=0.0000;FS=17.192;InbreedingCoeff=-0.0553;MLEAC=1;MLEAF=0.026;MQ=58.43;MQRankSum=-1.560e+01;QD=0.08;ReadPosRankSum=-5.404e+00;SOR=2.540	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:687,0:687:0:.:.:0,0,16048	18	0	1	2
chr3	195784187	195784187	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C7393T:p.L2465F	.	.	407	1114	1	0	0	1	0.000448632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.797	P	0.177	B	.	.	1.000	N	0.55	N	1.17	T	-1.060	T	0.044	T	0.059	0.470	6.552	.	-0.893	-0.217	2.745	0.030	0.00235125423738	.	.	0.0005	0.0014	0	0.0048	0	9.416e-05	0	0.0005	7.76e-05	12	154602	rs775924996	6.158e-05	0.0001	6.363e-05	5.947e-05	0.0003	5.083e-05	4.679e-05	0.0002	0.0001	0.0003	0.0001	4.094e-05	8.698e-05	0	0.0002	4.072e-05	0.0002	0.0001	0.0003	0.0004	0.0002	0.0003	0.0008	0.0002	0.0002	0.0005	0.0005	0.0008	0	0.0001	0.0003	0.0002	0	0	5.898e-05	0.0005	0.0006	0.179	0.31834	T	0.054	0.47097	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.17	0.39223	T	0.03	0.07444	N	0.031	0.00770	-1.0601	0.11731	T	0.044	0.18865	T	7	0.007906616	0.00179	T	0.002351	0.04562	T	0.030	0.07022	.	.	0.0138822411134	0.00435	1.8935172387048806E-5	0.00001	.	.	0.52158677578	0.41849	T	.	.	.	-0.321129	0.06806	T	-0.699056	0.05878	T	0.00450663274780922	0.00048	T	0.765923	0.39354	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.38782	B	.;.	.;.	2.026731	0.25760	16.88	0.88633212630738822	0.18131	0.00505	0.02373	N	AEFDGBHCI	0.036412	0.04848	N	-1.07350490141364	0.07135	0.3305295	-1.28187521989257	0.04675	0.2210905	8.31363268938329E-5	0.04703	0.713056	0.82018	0	0.546412	0.12157	0	0.608524	0.38960	0	0.613276	0.41899	0	.	.	.	.	.	-0.821000	0.04560	-6.495000	0.01383	0.061000	0.17545	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.0:0.4482:0.2987:0.2531	2.745	0.04940	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3721.06	477	chr3	195784187	.	G	A	3721.06	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.242e+00;DP=12348;ExcessHet=0.0000;FS=0.562;InbreedingCoeff=-0.0294;MLEAC=1;MLEAF=0.024;MQ=59.65;MQRankSum=-1.920e+00;QD=6.35;ReadPosRankSum=0.319;SOR=0.755	GT:AD:DP:GQ:PL	0/0:835,0:835:99:0,120,1800	20	0	1	0
chr3	195784245	195784245	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2788.17	477	chr3	195784245	.	A	G,*	2788.17	.	AC=1,1;AF=0.042,0.042;AN=24;BaseQRankSum=1.65;DP=15335;ExcessHet=0.1190;FS=0.000;InbreedingCoeff=-0.0010;MLEAC=2,2;MLEAF=0.083,0.083;MQ=58.21;MQRankSum=-1.971e+01;QD=1.31;ReadPosRankSum=2.48;SOR=0.678	GT:AD:DP:GQ:PL	0/1:716,137,0:853:99:2798,0,28592,3389,29164,32802	10	0	1	9
chr3	195784260	195784260	C	0	exonic	MUC4	.	.	.	.	.	446	1044	8	0	24	32	0.00381679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	2249.06	800	chr3	195784260	.	C	T,*	2249.06	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=4.87;DP=15677;ExcessHet=0.1128;FS=0.000;InbreedingCoeff=-0.1111;MLEAC=1,1;MLEAF=0.031,0.031;MQ=58.04;MQRankSum=-1.876e+01;QD=1.07;ReadPosRankSum=5.00;SOR=0.662	GT:AD:DP:GQ:PL	0/1:716,113,0:829:99:2261,0,18658,3301,20894,29379	14	0	1	5
chr3	195784295	195784318	CACCTGTGGAAGCTGAGGAAAGGC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.7262_7285del:p.G2421_G2428del	.	.	416	1086	7	0	13	20	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0003	0	0	3.84e-05	1	26028	rs775224465	0.0022	0.0088	0.0022	0.0023	0.0151	0.0022	0.0021	0.0121	0.0110	0.0032	0.0043	0.0049	0	0.0030	0.0151	0.0020	0.0034	0.0026	0.0001	0.0014	9.675e-05	0.0001	0.0003	6.433e-05	5.217e-05	0.0001	8.824e-05	8.575e-05	0	0.0003	0.0003	0	0	0	9.109e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	1205.5	878	chr3	195784294	.	TCACCTGTGGAAGCTGAGGAAAGGC	T	1205.5	.	AC=1;AF=0.029;AN=34;BaseQRankSum=2.92;DP=17545;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0667;MLEAC=1;MLEAF=0.029;MQ=58.51;MQRankSum=-1.729e+01;QD=1.40;ReadPosRankSum=3.31;SOR=0.815	GT:AD:DP:GQ:PL	0/0:948,0:948:99:0,120,1800	16	0	1	4
chr3	195784299	195784299	T	0	exonic	MUC4	.	.	.	.	.	418	1069	19	1	15	36	0.00972673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	3166.6	878	chr3	195784299	.	T	G,*	3166.6	.	AC=1,1;AF=0.029,0.029;AN=34;BaseQRankSum=-3.583e+00;DP=17640;ExcessHet=0.1128;FS=0.000;InbreedingCoeff=-0.0959;MLEAC=1,1;MLEAF=0.029,0.029;MQ=59.59;MQRankSum=2.22;QD=1.81;ReadPosRankSum=-1.026e+00;SOR=0.731	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:948,0,0:948:99:.:.:0,120,1800,120,1800,1800	15	0	1	4
chr3	195784343	195784343	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C7237G:p.H2413D	.	.	428	1009	55	7	23	92	0.0330618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	B	0.0	B	.	.	1.000	N	0.55	N	1.58	T	-1.007	T	0.036	T	0.101	-0.403	2.114	.	-0.914	-1.963	4.69	0.025	0.00480540183533	.	.	0.0002	0	0	0	0	0.0005	0	0	3.84e-05	1	26028	rs202190300	0.0030	0.0072	0.0028	0.0032	0.0156	0.0029	0.0028	0.0125	0.0114	0.0034	0.0055	0.0056	0	0.0057	0.0156	0.0026	0.0040	0.0037	0.0002	0.0031	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0	0.0003	0.0010	0	0	0	0.0003	0.0006	0	1.0	0.02017	T	0.195	0.28300	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.58	0.29342	T	-0.17	0.09627	N	0.166	0.17553	-1.0072	0.27789	T	0.036	0.15334	T	7	0.046534777	0.03856	T	0.004805	0.12004	T	0.025	0.05312	.	.	0.0138822411134	0.00435	6.529260570088327E-4	0.00060	.	.	0.507045388222	0.39809	T	.	.	.	-0.348596	0.04816	T	-0.738511	0.03953	T	0.0315731556165468	0.02238	T	0.566543	0.20051	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07697	B	.;.	.;.	-0.449607	0.02034	0.183	0.84245075148163384	0.15179	0.00328	0.01715	N	AEFBCI	0.042811	0.06688	N	-1.40519715015048	0.02593	0.1147022	-1.53226286008654	0.02100	0.09610031	1.84639979935336E-5	0.02871	0.447487	0.09398	2	0.546412	0.12157	0	0.49644	0.08281	0	0.613276	0.41899	0	.	.	.	.	.	-3.341000	0.00560	-1.066000	0.06436	-2.392000	0.00297	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	1.0E-4:0.0:0.6456:0.3543	4.69	0.12158	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	10852.67	901	chr3	195784343	.	G	C,GACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTC	10852.67	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-7.630e-01;DP=18490;ExcessHet=0.3300;FS=2.986;InbreedingCoeff=-0.0825;MLEAC=2,1;MLEAF=0.048,0.024;MQ=57.79;MQRankSum=-1.200e+01;QD=8.33;ReadPosRankSum=-9.950e-01;SOR=1.265	GT:AD:DP:GQ:PL	0/1:385,26,0:411:99:2757,0,29698,386,13129,16003	18	0	2	0
chr3	195784445	195784445	A	0	exonic	MUC4	.	.	.	.	.	409	1087	13	0	13	26	0.00594422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	108.94	903	chr3	195784445	.	A	T,*	108.94	.	AC=1,1;AF=0.036,0.036;AN=28;BaseQRankSum=0.524;DP=21993;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.1507;MLEAC=1,1;MLEAF=0.036,0.036;MQ=58.95;MQRankSum=-1.645e+00;QD=0.11;ReadPosRankSum=3.85;SOR=0.788	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:1582,0,0:1582:0:.:.:0,0,34633,0,34633,34633	12	0	1	7
chr3	195784556	195784603	GGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAA	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.6977_7024del:p.L2326_S2341del	.	.	508	1002	8	0	4	12	0.00397614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1125	.	0.0079	0.0319	0.0070	0	0.0036	0.0102	0.0043	0.0028	0.0006147	16	26028	.	0.0020	0.0030	0.0019	0.0020	0.0068	0.0019	0.0019	0.0049	0.0042	0.0039	0.0021	0.0043	0.0001	0.0029	0.0068	0.0018	0.0033	0.0018	0.0060	0.0073	0.0061	0.0059	0.0094	0.0057	0.0055	0.0086	0.0082	0.0094	0.0033	0.0053	0.0058	0.0012	0.0029	0	0.0057	0.0054	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	13126.38	504	chr3	195784555	.	GGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAA	G	13126.38	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.62;DP=11413;ExcessHet=0.0000;FS=1.094;InbreedingCoeff=-0.0422;MLEAC=1;MLEAF=0.025;MQ=53.80;MQRankSum=-2.840e-01;QD=17.98;ReadPosRankSum=-3.525e+00;SOR=0.720	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:758,0:758:99:.:.:0,120,1800	19	0	1	1
chr3	195784560	195784560	A	0	exonic	MUC4	.	.	.	.	.	21	200	1	1	3	6	0.00744417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	118.35	499	chr3	195784560	.	A	G,*	118.35	.	AC=2,1;AF=0.167,0.083;AN=12;DP=11366;ExcessHet=0.0000;FS=1.094;InbreedingCoeff=0.0221;MLEAC=3,2;MLEAF=0.250,0.167;MQ=60.00;QD=0.16;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:747,0,0:747:0:.:.:0,0,0,0,0,0	4	1	0	15
chr3	195784574	195784575	GC	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	59833.56	472	chr3	195784574	.	GC	G,*	59833.56	.	AC=4,1;AF=0.100,0.025;AN=40;BaseQRankSum=2.18;DP=11527;ExcessHet=0.0454;FS=2.301;InbreedingCoeff=0.3313;MLEAC=4,1;MLEAF=0.100,0.025;MQ=56.15;MQRankSum=1.54;QD=17.87;ReadPosRankSum=2.75;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:598,0,0:598:0:.:.:0,0,0,0,0,0	16	0	3	1
chr3	195784575	195784575	C	0	exonic	MUC4	.	.	.	.	.	813	569	58	6	76	146	0.057947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	77.83	457	chr3	195784575	.	C	G,*	77.83	.	AC=2,5;AF=0.125,0.313;AN=16;BaseQRankSum=2.15;DP=11392;ExcessHet=0.0295;FS=1.452;InbreedingCoeff=0.1763;MLEAC=2,10;MLEAF=0.125,0.625;MQ=56.55;MQRankSum=8.88;QD=0.03;ReadPosRankSum=5.23;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:598,0,0:598:0:.:.:0,0,0,0,0,0	3	1	0	13
chr3	195784576	195784719	GTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGA	0	exonic	MUC4	.	.	.	.	.	534	906	66	8	8	90	0.0432946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	57691.6	410	chr3	195784576	.	GTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGA	G,*	57691.6	.	AC=4,1;AF=0.100,0.025;AN=40;BaseQRankSum=7.19;DP=12602;ExcessHet=0.0454;FS=0.560;InbreedingCoeff=0.3313;MLEAC=4,1;MLEAF=0.100,0.025;MQ=56.89;MQRankSum=1.55;QD=14.10;ReadPosRankSum=3.14;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:598,0,0:598:0:.:.:0,0,0,0,0,0	16	0	3	1
chr3	195784580	195784580	T	0	exonic	MUC4	.	.	.	.	.	527	898	72	9	16	106	0.04772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	71.44	410	chr3	195784580	.	T	C,*	71.44	.	AC=2,5;AF=0.056,0.139;AN=36;DP=12589;ExcessHet=0.0090;FS=0.560;InbreedingCoeff=0.3872;MLEAC=1,6;MLEAF=0.028,0.167;MQ=60.00;QD=0.02;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:598,0,0:598:0:.:.:0,0,0,0,0,0	13	1	0	3
chr3	195784583	195784583	C	0	exonic	MUC4	.	.	.	.	.	522	904	72	9	15	105	0.0474183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	71.59	410	chr3	195784583	.	C	G,*	71.59	.	AC=2,5;AF=0.056,0.139;AN=36;DP=12544;ExcessHet=0.0090;FS=0.560;InbreedingCoeff=0.3654;MLEAC=1,6;MLEAF=0.028,0.167;MQ=60.00;QD=0.02;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:598,0,0:598:0:.:.:0,0,0,0,0,0	13	1	0	3
chr3	195784652	195784652	C	0	exonic	MUC4	.	.	.	.	.	842	358	133	132	57	454	0.356694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5294	123606.13	363	chr3	195784652	.	C	G,*	123606.13	.	AC=16,4;AF=0.471,0.118;AN=34;BaseQRankSum=1.37;DP=11220;ExcessHet=2.7716;FS=0.566;InbreedingCoeff=-0.1110;MLEAC=19,5;MLEAF=0.559,0.147;MQ=55.09;MQRankSum=-1.168e+01;QD=15.32;ReadPosRankSum=-3.180e-01;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,445,0:446:99:.:.:25530,1875,0,23450,1621,23215	2	3	8	4
chr3	195784654	195784654	T	0	exonic	MUC4	.	.	.	.	.	811	382	134	136	59	465	0.347009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	117318.88	370	chr3	195784654	.	T	C,*	117318.88	.	AC=16,3;AF=0.471,0.088;AN=34;BaseQRankSum=1.41;DP=11323;ExcessHet=1.4183;FS=0.000;InbreedingCoeff=-0.0051;MLEAC=19,4;MLEAF=0.559,0.118;MQ=54.70;MQRankSum=-1.241e+01;QD=16.09;ReadPosRankSum=-3.410e-01;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,445,0:445:99:1|1:195784654_T_C:19366,1351,0,15470,1599,16463:195784654	3	3	8	4
chr3	195784655	195784655	C	0	exonic	MUC4	.	.	.	.	.	812	379	133	136	62	467	0.348237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4706	108863.73	369	chr3	195784655	.	C	*,T	108863.73	.	AC=4,15;AF=0.118,0.441;AN=34;BaseQRankSum=2.58;DP=11307;ExcessHet=1.4183;FS=0.000;InbreedingCoeff=-0.0051;MLEAC=5,17;MLEAF=0.147,0.500;MQ=54.71;MQRankSum=-1.230e+01;QD=14.80;ReadPosRankSum=-4.320e-01;SOR=0.673	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,164,222:386:99:0|1:195784654_T_C:24229,9533,11985,6161,0,4805:195784654	3	0	1	4
chr3	195784719	195784719	A	0	exonic	MUC4	.	.	.	.	.	956	119	187	211	49	658	0.719008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6333	181902.03	501	chr3	195784719	.	A	G,*	181902.03	.	AC=18,3;AF=0.600,0.100;AN=30;BaseQRankSum=-5.120e-01;DP=14927;ExcessHet=7.4688;FS=0.000;InbreedingCoeff=-0.1407;MLEAC=23,4;MLEAF=0.767,0.133;MQ=57.00;MQRankSum=-5.969e+00;QD=19.43;ReadPosRankSum=-2.732e+00;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,764,0:764:99:.:.:31040,2411,0,31033,2411,31030	0	4	8	6
chr3	195784844	195784844	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C6736A:p.L2246I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.784	P	0.092	B	.	.	0.986	N	0.55	N	1.38	T	-1.065	T	0.029	T	0.135	0.231	5.246	.	-2.619	-2.676	.	0.040	0.00356071409399	.	.	3.947e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs757417777	3.534e-05	0.0003	4.272e-05	2.776e-05	0.0004	2.705e-05	2.437e-05	0.0002	0.0002	0.0004	0	0	0	0	0	3.271e-05	3.479e-05	1.271e-05	6.98e-05	0.0008	8.191e-05	5.713e-05	0.0001	3.723e-05	2.866e-05	5.517e-05	3.604e-05	0.0001	0	6.839e-05	0	0	9.69e-05	0	4.477e-05	0	0	0.065	0.36310	T	0.331	0.18560	T	.	.	.	.	.	.	.	.	.	.	1	0.24637	N	.	.	.	1.38	0.36330	T	-0.1	0.08495	N	0.099	0.08088	-1.0650	0.10549	T	0.029	0.12322	T	6	0.053164303	0.05464	T	0.003561	0.08123	T	0.040	0.10527	0.138	0.04187	0.0138822411134	0.00435	2.3547091828810728E-4	0.00021	.	.	0.510082602501	0.40234	T	.	.	.	-0.302889	0.08389	T	-0.672855	0.07427	T	0.0843988419440803	0.10540	T	0.759324	0.38363	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.25560	B	.;.	.;.	0.552030	0.09206	5.989	0.92255376197663097	0.21636	0.00042	0.00346	N	AEFDBI	0.041751	0.06389	N	-1.76110933178723	0.00648	0.02793257	-1.94796613980057	0.00392	0.01734401	1.80447474822864E-4	0.05786	0.615465	0.37627	0	0.601575	0.49859	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-3.270000	0.00589	-14.750000	0.00388	-2.378000	0.00301	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1324.06	764	chr3	195784844	.	G	T	1324.06	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=18684;ExcessHet=0.0000;FS=5.055;InbreedingCoeff=-0.0294;MLEAC=1;MLEAF=0.024;MQ=58.06;MQRankSum=-1.215e+01;QD=1.13;ReadPosRankSum=-8.900e-01;SOR=1.360	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1463,0:1463:99:.:.:0,120,1800	20	0	1	0
chr3	195784867	195784867	-	CGTGT	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6712_6713insACACG:p.A2238Dfs*768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	5171.38	764	chr3	195784867	.	G	GCGTGT	5171.38	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.66;DP=18656;ExcessHet=0.0000;FS=3.029;InbreedingCoeff=-0.0422;MLEAC=1;MLEAF=0.025;MQ=58.04;MQRankSum=-1.752e+01;QD=4.76;ReadPosRankSum=-4.596e+00;SOR=0.936	GT:AD:DP:GQ:PL	0/0:1463,0:1463:99:0,120,1800	19	0	1	1
chr3	195785266	195785266	A	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.T6314C:p.V2105A	.	.	404	1107	10	1	0	12	0.00539084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.613	P	0.058	B	.	.	1.000	N	-0.55	N	1.47	T	-1.033	T	0.021	T	0.148	-0.568	1.441	.	0.408	1.239	5.200	0.025	.	.	.	0.0052	0.0108	0.0017	0	0.0005	0.0025	0.0068	0.0095	0	0	154602	rs766863695	0.0003	0.0021	0.0003	0.0003	0.0017	0.0003	0.0002	0.0013	0.0012	0.0017	0.0002	0.0003	0	6.103e-05	0.0010	0.0002	0.0004	0.0005	0.0021	0.0081	0.0022	0.0020	0.0058	0.0019	0.0018	0.0051	0.0049	0.0058	0	0.0015	0.0003	0	0.0001	0.0049	0.0010	0.0022	0.0023	0.407	0.14743	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.47	0.33189	T	-0.1	0.09627	N	0.024	0.00445	-1.0333	0.19395	T	0.021	0.08778	T	7	0.004711926	0.00099	T	.	.	.	0.025	0.05312	.	.	0.0138822411134	0.00435	1.9919801351175342E-4	0.00017	.	.	0.490076959133	0.37449	T	.	.	.	-0.282386	0.10417	T	-0.643404	0.09422	T	0.00738721061497927	0.00085	T	0.492951	0.15215	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.27131	B	.;.	.;.	0.932911	0.13084	9.585	0.2986851452695114	0.01605	0.00136	0.00836	N	AEFBCI	0.026922	0.02108	N	-1.10974213961851	0.06469	0.2978798	-1.23127551893087	0.05414	0.2579215	1.16741367255487E-5	0.02871	0.615465	0.37627	0	0.601575	0.49859	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-0.141000	0.10308	-2.174000	0.04104	-1.124000	0.01467	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.9998:0.0:2.0E-4:0.0	5.200	0.14580	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	431.98	704	chr3	195785266	.	A	G	431.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.19;DP=14598;ExcessHet=0.0000;FS=0.926;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.16;MQRankSum=-1.674e+01;QD=0.53;ReadPosRankSum=-4.256e+00;SOR=0.833	GT:AD:DP:GQ:PL	0/0:686,0:686:99:0,120,1800	20	0	1	0
chr3	195785275	195785293	GCGTCGGTGACAAGAAGAG	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.6287_6305del:p.S2096Ffs*902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.901e-06	2.138e-05	1.431e-06	4.41e-06	2.82e-06	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.82e-06	1.751e-05	0	0	8.594e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	279.94	704	chr3	195785274	.	AGCGTCGGTGACAAGAAGAG	A	279.94	.	AC=1;AF=0.024;AN=42;DP=14583;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.10;QD=0.38;SOR=0.679	GT:AD:DP:GQ:PL	0/0:686,0:686:99:0,120,1800	20	0	1	0
chr3	195785314	195785314	-	C	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6265_6266insG:p.I2089Sfs*27	.	.	482	1018	3	1	18	23	0.00244978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0004	0	0	0	8.29e-05	0	0.0001	.	.	.	rs764936489	0.0004	0.0014	0.0003	0.0005	0.0021	0.0004	0.0004	0.0016	0.0015	0.0021	0.0005	0.0004	0.0002	0.0011	0.0005	0.0003	0.0007	0.0003	0.0006	0.0014	0.0006	0.0007	0.0015	0.0005	0.0005	0.0011	0.0010	0.0015	0	0.0002	0	0	0.0002	0	0.0005	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	2900.14	742	chr3	195785314	.	A	AC	2900.14	.	AC=2;AF=0.059;AN=34;BaseQRankSum=2.27;DP=14707;ExcessHet=0.1072;FS=5.464;InbreedingCoeff=-0.1062;MLEAC=2;MLEAF=0.059;MQ=57.83;MQRankSum=-1.068e+00;QD=2.36;ReadPosRankSum=-2.790e-01;SOR=1.313	GT:AD:DP:GQ:PL	0/0:686,0:686:99:0,120,1800	15	0	2	4
chr3	195785315	195785315	-	GAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6264_6265insGTGTCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTC:p.I2089Vfs*931	.	.	542	16	26	927	11	1891	0.983264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.337e-05	0	0	0	0.0005	7.837e-05	0	0	1.29e-05	2	154602	rs751858617	0.0001	0.0010	0.0001	0.0002	0.0009	0.0001	0.0001	0.0006	0.0006	0.0009	8.604e-05	0	2.823e-05	0.0005	0.0002	9.85e-05	0.0002	7.712e-05	0.0004	0.0010	0.0004	0.0004	0.0009	0.0003	0.0003	0.0007	0.0006	0.0009	0	7.172e-05	0	0	0.0001	0	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	501656.58	740	chr3	195785315	.	T	C,TGAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	501656.58	.	AC=40,2;AF=0.952,0.048;AN=42;BaseQRankSum=1.87;DP=15694;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=57.82;MQRankSum=-3.320e-01;QD=34.25;ReadPosRankSum=-4.420e-01;SOR=0.107	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,696,0:696:99:.:.:24784,2088,0,24784,2088,24784	0	19	0	0
chr3	195785363	195785410	CTGAGGAAGGGTTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATA	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.6170_6217del:p.V2057_S2072del	.	.	439	1067	8	0	8	16	0.00373483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1038	.	0.0026	0.0034	0.0020	0	0.0050	0.0036	0.0039	0.0009	.	.	.	rs779281839	4.13e-05	0.0003	3.778e-05	4.493e-05	0.0007	3.262e-05	2.932e-05	0.0002	0.0001	6.538e-05	2.942e-05	0	0	2.118e-05	0.0007	3.809e-05	7.157e-05	6.563e-05	6.181e-05	0.0007	7.557e-05	4.743e-05	0.0002	3.054e-05	2.216e-05	6.249e-05	4.057e-05	0.0002	0	7.759e-05	0	0	0	0	3.253e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	2079.52	834	chr3	195785362	.	GCTGAGGAAGGGTTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATA	G	2079.52	.	AC=1;AF=0.029;AN=34;BaseQRankSum=4.04;DP=14185;ExcessHet=0.0000;FS=1.000;InbreedingCoeff=-0.0786;MLEAC=1;MLEAF=0.029;MQ=56.74;MQRankSum=-1.048e+01;QD=2.31;ReadPosRankSum=-5.843e+00;SOR=0.820	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:683,0:683:99:.:.:0,120,1800	16	0	1	4
chr3	195785364	195785364	T	0	exonic	MUC4	.	.	.	.	.	441	974	97	0	10	107	0.0474328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	27392.49	834	chr3	195785364	.	T	C,*	27392.49	.	AC=5,1;AF=0.147,0.029;AN=34;BaseQRankSum=-9.670e-01;DP=14266;ExcessHet=1.7912;FS=2.937;InbreedingCoeff=-0.2375;MLEAC=6,1;MLEAF=0.176,0.029;MQ=57.01;MQRankSum=0.620;QD=7.11;ReadPosRankSum=-2.844e+00;SOR=0.971	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:683,0,0:683:99:.:.:0,120,1800,120,1800,1800	11	0	5	4
chr3	195785371	195785371	G	0	exonic	MUC4	.	.	.	.	.	5	198	22	0	1	23	0.0526316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	25396.43	834	chr3	195785371	.	G	A,*	25396.43	.	AC=7,1;AF=0.194,0.028;AN=36;BaseQRankSum=1.36;DP=14123;ExcessHet=0.5418;FS=3.054;InbreedingCoeff=-0.0202;MLEAC=7,1;MLEAF=0.194,0.028;MQ=56.87;MQRankSum=0.044;QD=6.67;ReadPosRankSum=-2.969e+00;SOR=1.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:683,0,0:683:99:.:.:0,120,1800,120,1800,1800	11	1	5	3
chr3	195785372	195785372	G	0	exonic	MUC4	.	.	.	.	.	529	885	99	0	9	108	0.0529695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	24926.62	834	chr3	195785372	.	G	C,*	24926.62	.	AC=5,1;AF=0.139,0.028;AN=36;BaseQRankSum=0.029;DP=14105;ExcessHet=1.7912;FS=3.806;InbreedingCoeff=-0.2213;MLEAC=6,1;MLEAF=0.167,0.028;MQ=56.89;MQRankSum=0.150;QD=6.36;ReadPosRankSum=-3.052e+00;SOR=1.011	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:683,0,0:683:99:.:.:0,120,1800,120,1800,1800	12	0	5	3
chr3	195785374	195785374	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8571	431121.8	754	chr3	195785374	.	T	C,*	431121.8	.	AC=36,1;AF=0.857,0.024;AN=42;BaseQRankSum=1.92;DP=14531;ExcessHet=1.1607;FS=1.262;InbreedingCoeff=-0.1351;MLEAC=36,1;MLEAF=0.857,0.024;MQ=56.84;MQRankSum=-6.000e-01;QD=31.27;ReadPosRankSum=1.39;SOR=0.348	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,709,0:711:99:.:.:25172,2099,0,25177,2128,25206	0	15	5	0
chr3	195785391	195785391	C	0	exonic	MUC4	.	.	.	.	.	459	975	85	2	1	90	0.0436488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	14855.56	802	chr3	195785391	.	C	*,G	14855.56	.	AC=1,5;AF=0.029,0.147;AN=34;BaseQRankSum=5.87;DP=13422;ExcessHet=1.8958;FS=4.251;InbreedingCoeff=-0.2308;MLEAC=1,6;MLEAF=0.029,0.176;MQ=56.41;MQRankSum=-2.403e+00;QD=4.45;ReadPosRankSum=-6.536e+00;SOR=1.060	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:655,0,0:655:99:.:.:0,120,1800,120,1800,1800	11	0	1	4
chr3	195785431	195785574	GGAAGAGGGGTGTCCTGACCTGTGGATGCTGAGGAAGTATCGGTGACAGGAAGCGGCGTGGTGTCACCAGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTGTCCTGTAGATACTGAGGAAGTGTCGGTGACC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.6006_6149del:p.D2005_T2052del	.	.	.	.	.	.	.	.	.	.	.	2822232	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0010	0.0020	0	0.0011	0.0016	0.0039	0.0006	.	.	.	.	3.88e-05	5.795e-05	4.041e-05	3.714e-05	0.0012	3.026e-05	2.744e-05	0.0005	0.0003	0	2.871e-05	0	0	0	0.0012	3.6e-05	8.862e-05	5.158e-05	2.036e-05	0.0002	2.654e-05	1.389e-05	4.523e-05	5.41e-06	2.5e-06	1.201e-05	6.33e-06	0	0	0	0	0	0	0	4.523e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	68.5	800	chr3	195785430	.	AGGAAGAGGGGTGTCCTGACCTGTGGATGCTGAGGAAGTATCGGTGACAGGAAGCGGCGTGGTGTCACCAGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTGTCCTGTAGATACTGAGGAAGTGTCGGTGACC	A	68.5	.	AC=1;AF=0.029;AN=34;BaseQRankSum=1.12;DP=13155;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0667;MLEAC=1;MLEAF=0.029;MQ=57.74;MQRankSum=-1.146e+01;QD=0.05;ReadPosRankSum=-3.813e+00;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:714,0:714:99:.:.:0,120,1800	16	0	1	4
chr3	195785437	195785437	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C6143A:p.P2048H	.	.	447	1069	0	2	4	8	0.00186741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	B	0.003	B	.	.	1.000	N	0	N	1.47	T	-1.006	T	0.030	T	0.078	-0.151	3.261	.	0.488	-0.267	.	0.019	0.00201068428208	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781754499	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	6.429e-05	0	8.323e-05	0	0.0023	0	0.0001	0.0002	0.0002	0.0002	0.0008	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	2.519e-05	0	0	0	0	0.0010	0	0.0003	0	0.0002	0.0	0.91255	D	0.107	0.37872	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.47	0.31987	T	-0.2	0.10136	N	0.107	0.09207	-1.0058	0.28216	T	0.030	0.12848	T	6	0.055903792	0.06182	T	0.002011	0.03642	T	0.019	0.03383	.	.	0.0138822411134	0.00435	1.2924115843814766E-4	0.00011	.	.	0.52127122879	0.41805	T	.	.	.	-0.277298	0.10956	T	-0.636096	0.09957	T	0.0474089427526406	0.05038	T	0.548745	0.18852	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.25785	B	.;.	.;.	1.440292	0.18595	13.82	0.88505193980125174	0.18029	0.01029	0.03860	N	AEFBCI	0.051259	0.09038	N	-1.24720308106973	0.04336	0.1955305	-1.35179852953206	0.03785	0.1772574	1.17531293679699E-5	0.02871	0.554377	0.28877	0	0.550933	0.16991	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	1.408000	0.34277	1.170000	0.24618	0.061000	0.17545	0.007000	0.17678	0.001000	0.17328	0.023000	0.12082	.	.	.	604	0.67577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.03125	3407.04	800	chr3	195785437	.	G	T	3407.04	.	AC=1;AF=0.031;AN=32;BaseQRankSum=2.54;DP=12522;ExcessHet=0.0000;FS=0.419;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.031;MQ=56.41;MQRankSum=-6.271e+00;QD=8.85;ReadPosRankSum=-6.373e+00;SOR=0.645	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:714,0:714:99:.:.:0,120,1800	15	0	1	5
chr3	195785443	195785443	T	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A6137C:p.D2046A	.	.	450	1058	12	1	1	15	0.00657277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	B	0.0	B	.	.	1.000	N	0	N	1.54	T	-1.020	T	0.025	T	0.125	0.288	5.558	.	-2.142	-2.267	.	0.015	0.003604254882	.	.	0.0012	0.0017	0	0	0.0023	0.0012	0	0.0009	0.0002393	37	154602	rs202129397	0.0003	0.0008	0.0003	0.0003	0.0008	0.0003	0.0003	0.0007	0.0006	0.0006	0	0.0003	0.0002	0.0024	0.0003	0.0002	0.0004	0.0008	0.0015	0.0030	0.0015	0.0016	0.0023	0.0014	0.0013	0.0017	0.0015	0.0021	0	0.0006	0.0007	0.0018	0.0017	0.0081	0.0014	0.0013	0.0023	0.318	0.13654	T	0.091	0.40426	T	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	.	.	.	1.53	0.30401	T	-0.2	0.10136	N	0.063	0.03502	-1.0198	0.23780	T	0.025	0.10509	T	6	0.007986397	0.00181	T	0.003604	0.08247	T	0.015	0.02232	.	.	0.0138822411134	0.00435	1.8720344249421197E-4	0.00016	.	.	0.493286401033	0.37895	T	.	.	.	-0.334697	0.05763	T	-0.718545	0.04867	T	0.00152941396766075	0.00015	T	0.531747	0.17685	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00229	B	.;.	.;.	0.397842	0.07692	4.366	0.94009402321113822	0.24110	0.00248	0.01370	N	AEFBCI	0.018914	0.00612	N	-2.0308230204244	0.00181	0.007772685	-2.11456447948871	0.00173	0.007623546	1.15454920013229E-5	0.02871	0.554377	0.28877	0	0.550933	0.16991	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-0.621000	0.05655	-5.708000	0.01623	-2.415000	0.00290	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	604	0.67577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.03125	3566.04	800	chr3	195785443	.	T	G	3566.04	.	AC=1;AF=0.031;AN=32;BaseQRankSum=6.24;DP=12514;ExcessHet=0.0000;FS=2.463;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.031;MQ=56.72;MQRankSum=-4.961e+00;QD=9.46;ReadPosRankSum=-5.003e+00;SOR=0.752	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:714,0:714:99:.:.:0,120,1800	15	0	1	5
chr3	195785445	195785445	C	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G6135C:p.Q2045H	.	.	476	1040	4	1	1	7	0.00287632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	B	0.003	B	.	.	1.000	N	0	N	1.29	T	-1.042	T	0.028	T	0.102	-0.781	0.728	.	-2.075	-2.609	.	0.019	0.00230392183033	.	.	0.0001	0	0	0	0	0.0003	0	0	3.88e-05	6	154602	rs778025830	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	6.49e-05	0	8.501e-05	2.92e-05	0.0023	0	0.0001	0.0003	0.0002	0.0002	0.0005	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0.0011	0	0.0003	0	0.0002	0.166	0.23183	T	0.01	0.65728	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.29	0.37578	T	-0.27	0.11366	N	0.053	0.04668	-1.0418	0.16770	T	0.028	0.11971	T	6	0.025753945	0.00760	T	0.002304	0.04424	T	0.019	0.03383	0.186	0.09517	0.0138822411134	0.00435	2.668964189333766E-4	0.00023	.	.	0.553018987179	0.46284	T	.	.	.	-0.329979	0.06113	T	-0.711769	0.05204	T	0.0250923404852311	0.01285	T	0.618838	0.23746	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.21503	B	.;.	.;.	-0.175811	0.03215	0.536	0.271917780216337	0.01338	0.00112	0.00708	N	AEFBCI	0.022193	0.01079	N	-1.97504517995062	0.00239	0.01025281	-2.07382485738277	0.00212	0.00935824	4.04866484404787E-4	0.06860	0.554377	0.28877	0	0.550933	0.16991	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-5.284000	0.00160	-3.091000	0.03069	-2.484000	0.00269	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	604	0.67577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.03125	3475.04	800	chr3	195785445	.	C	G	3475.04	.	AC=1;AF=0.031;AN=32;BaseQRankSum=2.04;DP=12502;ExcessHet=0.0000;FS=3.097;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.031;MQ=57.37;MQRankSum=-4.193e+00;QD=9.14;ReadPosRankSum=-4.270e+00;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:714,0:714:99:.:.:0,120,1800	15	0	1	5
chr3	195785644	195785644	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C5936G:p.T1979R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.898	P	0.134	B	.	.	0.995	N	0.55	N	1.12	T	-1.070	T	0.046	T	0.071	0.666	7.567	.	0.488	2.743	6.707	0.022	0.0040481072639	.	.	0.0001	0	0	0	0	0.0002	0	0	3.88e-05	6	154602	rs779935183	4.554e-05	0.0003	5.851e-05	3.222e-05	5.516e-05	3.637e-05	3.306e-05	4.343e-05	3.977e-05	0	0	0	0	0	0	5.516e-05	5.274e-05	1.278e-05	1.982e-05	8.564e-05	2.586e-05	1.352e-05	0.0002	5.27e-06	2.46e-06	4.9e-06	1.83e-06	0	0	0	0	0	0	0	2.951e-05	0	0.0002	0.011	0.63226	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.23389	N	.	.	.	1.12	0.39586	T	-0.67	0.19297	N	0.036	0.05287	-1.0702	0.09370	T	0.046	0.19760	T	7	0.08384368	0.13991	T	0.004048	0.09650	T	0.022	0.04323	0.242	0.17524	0.0297737177859	0.01360	7.400691630926471E-4	0.00068	.	.	0.525035858154	0.42335	T	.	.	.	-0.287393	0.09900	T	-0.650596	0.08912	T	0.0507102076503475	0.05625	T	0.840116	0.51512	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.50799	B	.;.	.;.	1.972713	0.25058	16.62	0.88710950449380832	0.18194	0.14712	0.18546	N	AEFDBCI	0.112585	0.22248	N	-0.735209427202321	0.15038	0.7543554	-0.901548046224119	0.12057	0.6180414	8.41618344391763E-5	0.04703	0.615465	0.37627	0	0.550933	0.16991	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	0.526000	0.22680	0.049000	0.13974	0.177000	0.17786	0.004000	0.16614	0.000000	0.08366	0.028000	0.12845	2.0E-4:0.0:0.9998:0.0	6.707	0.22443	604	0.67577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1420.06	769	chr3	195785644	.	G	C	1420.06	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.895e+00;DP=12563;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0292;MLEAC=1;MLEAF=0.024;MQ=58.98;MQRankSum=-4.331e+00;QD=1.22;ReadPosRankSum=3.14;SOR=0.730	GT:AD:DP:GQ:PL	0/0:620,0:620:99:0,120,1800	20	0	1	0
chr3	195785809	195785809	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C5771G:p.T1924S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.784	P	0.307	B	.	.	1.000	N	0.55	N	1.43	T	-1.065	T	0.050	T	0.082	-0.286	2.634	.	0.488	1.633	.	0.040	0.00305888533958	.	.	0.0003	0	0	0.0049	0	9.316e-05	0	0.0003	7.12e-05	11	154602	rs759653308	5.841e-05	0.0001	5.331e-05	6.365e-05	0.0017	4.778e-05	4.426e-05	0.0013	0.0012	0	0	0	0.0017	2.063e-05	0.0005	1.228e-05	7.1e-05	5.11e-05	3.975e-05	7.895e-05	1.297e-05	6.771e-05	0.0006	1.727e-05	1.137e-05	0.0002	8.404e-05	0	0	0	0	0.0006	0	0	4.421e-05	0	0	0.195	0.31987	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	.	.	.	1.33	0.35031	T	-0.1	0.08495	N	0.063	0.04790	-1.0654	0.10456	T	0.050	0.21456	T	6	0.008261412	0.00187	T	0.003059	0.06606	T	0.040	0.10527	0.107	0.01868	0.0138822411134	0.00435	2.776378258147571E-4	0.00024	.	.	0.533043444157	0.43464	T	.	.	.	-0.302946	0.08384	T	-0.672937	0.07421	T	0.0394965610797001	0.03599	T	0.763224	0.38939	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.37063	B	.;.	.;.	0.555582	0.09243	6.024	0.48423294783827697	0.04040	0.02115	0.06256	N	AEFBCI	0.073002	0.14589	N	-0.856859245280861	0.11882	0.5759168	-1.05940999564053	0.08512	0.4188642	1.23434099824135E-5	0.02871	0.554377	0.28877	0	0.446627	0.06534	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	1.375000	0.33900	-0.360000	0.09681	-1.633000	0.00850	0.005000	0.17040	0.000000	0.08366	0.001000	0.02609	.	.	.	604	0.67577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2249.06	689	chr3	195785809	.	G	C	2249.06	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.09;DP=12319;ExcessHet=0.0000;FS=0.696;InbreedingCoeff=-0.0294;MLEAC=1;MLEAF=0.024;MQ=59.45;MQRankSum=2.71;QD=2.29;ReadPosRankSum=-1.312e+00;SOR=0.789	GT:AD:DP:GQ:PL	0/0:715,0:715:99:0,120,1800	20	0	1	0
chr3	195786289	195786289	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C5291A:p.T1764N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.659	P	0.403	B	.	.	0.999	N	0.55	N	1.49	T	-1.030	T	0.048	T	0.027	0.633	7.400	.	0.088	0.669	5.868	0.096	0.00288369811063	.	.	.	.	.	.	.	.	.	.	.	.	.	rs762639759	7.305e-07	4.13e-06	0	1.481e-06	9.443e-07	0	0	.	.	0	0	0	0	0	0	9.443e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	0.23631	T	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	0.998872	0.45601	D	.	.	.	1.43	0.32958	T	-0.17	0.09627	N	0.066	0.08786	-1.0304	0.20325	T	0.048	0.20355	T	7	0.075591594	0.11701	T	0.002884	0.06074	T	0.096	0.27654	0.098	0.01383	0.0138822411134	0.00435	1.9107310317840158E-4	0.00017	.	.	0.574587523937	0.49325	T	.	.	.	-0.350662	0.04686	T	-0.741478	0.03829	T	0.196937739849091	0.20246	T	0.864413	0.56163	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.43640	B	.;.	.;.	1.199011	0.15912	12.19	0.69880203458573376	0.09114	0.04616	0.10276	N	AEFDBCI	0.082889	0.16788	N	-0.924947611451403	0.10260	0.4894898	-1.13182017946414	0.07099	0.3440407	6.09737466362473E-4	0.07437	0.569682	0.32691	0	0.446627	0.06534	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	.	.	.	1.860000	0.39068	-0.632000	0.08120	0.167000	0.17740	0.010000	0.18352	0.000000	0.08366	0.008000	0.08271	8.0E-4:0.0:0.9992:0.0	5.868	0.18034	604	0.67577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	6355.74	562	chr3	195786289	.	G	T	6355.74	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.195e+00;DP=11242;ExcessHet=0.0000;FS=3.501;InbreedingCoeff=-0.0529;MLEAC=1;MLEAF=0.026;MQ=59.86;MQRankSum=1.81;QD=8.84;ReadPosRankSum=0.666;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:699,0:699:99:.:.:0,120,1800	18	0	1	2
chr3	195786670	195786670	-	TGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGC	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.4909_4910insGCCCTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCCTGTCACCA:p.T1636_N1637insSPSSASTGHATPLPVT	.	.	422	1036	34	8	22	72	0.0235627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0004	0.0020	0.0059	0	0.0009	0	0.0003	3.84e-05	1	26028	.	0.0025	0.0082	0.0023	0.0027	0.0528	0.0024	0.0024	0.0502	0.0491	0.0008	0.0039	0.0075	0.0528	0.0022	0.0021	0.0011	0.0037	0.0048	0.0039	0.0067	0.0034	0.0043	0.0358	0.0035	0.0034	0.0295	0.0271	0.0010	0	0.0085	0.0060	0.0358	0.0045	0	0.0027	0.0069	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	2848.29	442	chr3	195786670	.	T	TTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGC	2848.29	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.294;DP=9009;ExcessHet=0.0000;FS=5.401;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=57.48;MQRankSum=-1.393e+01;QD=6.44;ReadPosRankSum=0.536;SOR=1.025	GT:AD:DP:GQ:PL	0/0:383,0:383:99:0,120,1800	19	0	1	1
chr3	195786730	195786730	A	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.T4850G:p.L1617R	.	.	422	1082	17	0	1	18	0.00779459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.995	D	0.987	D	.	.	1.000	N	0.55	N	0.94	T	-1.031	T	0.110	T	0.145	-0.225	2.912	.	0.077	-0.265	2.841	0.051	.	.	.	0.0101	0.0013	0.0068	0	0.0132	0.0100	0.0159	0.0120	0.0015653	242	154602	rs773515840	0.0008	0.0010	0.0008	0.0009	0.0036	0.0008	0.0008	0.0022	0.0018	0.0003	0.0003	0.0022	0	0.0033	0.0036	0.0007	0.0010	0.0007	0.0025	0.0033	0.0027	0.0024	0.0049	0.0023	0.0022	0.0034	0.0032	0.0005	0	0.0016	0.0047	0	0.0035	0.0035	0.0037	0.0039	0.0049	0.042	0.47745	D	0.097	0.39340	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.94	0.44065	T	-0.2	0.10136	N	0.205	0.31365	-1.0307	0.20227	T	0.110	0.39723	T	7	0.005106479	0.00110	T	.	.	.	0.051	0.14325	.	.	0.0920862733494	0.08535	0.006603376277569852	0.00628	.	.	0.481438726187	0.36255	T	.	.	.	-0.280231	0.10642	T	-0.640309	0.09647	T	0.00882367733843768	0.00109	T	0.840516	0.51562	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.49295	B	.;.	.;.	2.219817	0.28328	17.76	0.78396116738620603	0.12283	0.00183	0.01069	N	AEFBI	0.051955	0.09228	N	-0.680219889845733	0.16587	0.8463703	-0.967042621438655	0.10530	0.5309426	2.07341824094782E-5	0.02871	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-1.551000	0.02282	-3.923000	0.02450	0.183000	0.17812	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.5024:0.497:2.0E-4:3.0E-4	2.841	0.05190	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.05263	7616.55	486	chr3	195786730	.	A	C	7616.55	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.443e+00;DP=9736;ExcessHet=0.1128;FS=0.546;InbreedingCoeff=-0.0667;MLEAC=2;MLEAF=0.053;MQ=58.70;MQRankSum=0.419;QD=4.69;ReadPosRankSum=-2.640e-01;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:786,0:786:0:.:.:0,0,16490	17	0	2	2
chr3	195786813	195786908	GTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTAGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.4672_4767del:p.A1558_D1589del	.	.	441	1076	2	0	3	5	0.000928505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0	0	0	0	0.0012	3.84e-05	1	26028	.	1.477e-05	3.366e-05	1.311e-05	1.648e-05	0.0005	9.65e-06	7.84e-06	8.14e-05	3.407e-05	0.0001	6.227e-05	0	0	0	0.0005	3.795e-06	5.397e-05	6.603e-05	3.685e-05	8.153e-05	1.804e-05	5.647e-05	0.0006	1.161e-05	6.8e-06	0.0001	4.251e-05	8.469e-05	0	0	0	0	0	0	0	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1866.66	490	chr3	195786812	.	TGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTAGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGC	T	1866.66	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.66;DP=9347;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0390;MLEAC=1;MLEAF=0.026;MQ=55.81;MQRankSum=-1.163e+01;QD=1.92;ReadPosRankSum=3.16;SOR=0.793	GT:AD:DP:GQ:PL	./.:836,0:836:0:0,0,18172	18	0	1	2
chr3	195786836	195786836	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A4744G:p.T1582A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	B	0.414	B	.	.	1.000	N	-0.55	N	1.5	T	-0.952	T	0.035	T	0.072	0.024	4.137	.	0.077	-0.860	4.518	0.022	.	.	.	0.0015	0.0186	0	0	0	0.0002	0	0	.	.	.	rs767721533	2.643e-05	0.0001	2.753e-05	2.53e-05	0.0005	1.935e-05	1.717e-05	0.0003	0.0003	0.0005	0	0.0002	0	0	0	8.51e-06	5.389e-05	6.45e-05	0.0004	0.0012	0.0005	0.0003	0.0014	0.0003	0.0003	0.0010	0.0009	0.0014	0.0013	0.0002	0.0006	0.0003	0	0	3.369e-05	0	0.0006	0.427	0.10245	T	0.017	0.60337	D	.	.	.	.	.	.	.	.	.	.	1	0.20864	N	.	.	.	1.5	0.31205	T	-0.1	0.08495	N	0.025	0.00527	-0.9522	0.40590	T	0.035	0.14943	T	7	0.0063316226	0.00143	T	.	.	.	0.022	0.04323	.	.	0.0138822411134	0.00435	2.5633403550001925E-4	0.00023	.	.	0.463001132011	0.33722	T	.	.	.	-0.37565	0.03317	T	-0.777372	0.02533	T	0.034463220526396	0.02716	T	0.532847	0.17735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.03773	B	.;.	.;.	0.267129	0.06449	2.924	0.57728693465169711	0.05833	0.00351	0.01809	N	AEFBI	0.053201	0.09565	N	-1.17603786426683	0.05363	0.2443288	-1.31433640132482	0.04244	0.1997721	1.16378297766622E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-6.511000	0.00078	-6.858000	0.01288	-1.217000	0.01344	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:7.0E-4:0.0:0.9993	4.518	0.11349	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.05	2734.42	490	chr3	195786836	.	T	C,*	2734.42	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=5.49;DP=9341;ExcessHet=0.1128;FS=3.626;InbreedingCoeff=-0.0526;MLEAC=1,1;MLEAF=0.025,0.025;MQ=57.26;MQRankSum=-1.092e+01;QD=2.19;ReadPosRankSum=-8.680e-01;SOR=1.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:819,0,0:819:99:.:.:0,120,1800,120,1800,1800	18	0	1	1
chr3	195786836	195786836	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2734.42	490	chr3	195786836	.	T	C,*	2734.42	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=5.49;DP=9341;ExcessHet=0.1128;FS=3.626;InbreedingCoeff=-0.0526;MLEAC=1,1;MLEAF=0.025,0.025;MQ=57.26;MQRankSum=-1.092e+01;QD=2.19;ReadPosRankSum=-8.680e-01;SOR=1.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:819,0,0:819:99:.:.:0,120,1800,120,1800,1800	18	0	1	1
chr3	195786837	195786837	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C4743G:p.H1581Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	P	0.394	B	.	.	1.000	N	0.55	N	1.77	T	-0.987	T	0.042	T	0.043	-0.257	2.764	.	0.088	1.076	5.868	0.051	0.0018022909023	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433967173	2.9e-06	6.849e-06	0	5.882e-06	5.132e-05	6.8e-07	4.6e-07	1.698e-05	1.007e-05	0	0	0	0	0	0	0	0	5.132e-05	2.013e-05	0.0001	0	4.112e-05	0.0002	5.35e-06	2.49e-06	.	.	2.52e-05	0	0	0	0	0	0	1.487e-05	0	0.0002	0.033	0.44358	D	0.047	0.49120	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.77	0.26445	T	-0.3	0.11913	N	0.06	0.05037	-0.9870	0.33347	T	0.042	0.18202	T	7	0.0676651	0.09461	T	0.001802	0.03089	T	0.051	0.14325	0.185	0.09388	0.0138822411134	0.00435	9.078141338902045E-4	0.00083	.	.	0.477809727192	0.35755	T	.	.	.	-0.377128	0.03248	T	-0.779495	0.02468	T	0.0961095467209816	0.11924	T	0.552145	0.19060	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.41480	B	.;.	.;.	0.881260	0.12544	9.074	0.65028823967065863	0.07658	0.01111	0.04064	N	AEFBI	0.067318	0.13228	N	-0.966786020209137	0.09319	0.4405873	-1.15569419400416	0.06666	0.3216276	1.17720544703296E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-1.554000	0.02276	-4.346000	0.02205	0.167000	0.17740	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	8.0E-4:0.0:0.9992:0.0	5.868	0.18034	604	0.67577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05	2734.42	490	chr3	195786837	.	G	C,*	2734.42	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=2.93;DP=9337;ExcessHet=0.1128;FS=3.626;InbreedingCoeff=-0.0526;MLEAC=1,1;MLEAF=0.025,0.025;MQ=57.22;MQRankSum=-1.092e+01;QD=2.19;ReadPosRankSum=-1.082e+00;SOR=1.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:819,0,0:819:99:.:.:0,120,1800,120,1800,1800	18	0	1	1
chr3	195786837	195786837	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2734.42	490	chr3	195786837	.	G	C,*	2734.42	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=2.93;DP=9337;ExcessHet=0.1128;FS=3.626;InbreedingCoeff=-0.0526;MLEAC=1,1;MLEAF=0.025,0.025;MQ=57.22;MQRankSum=-1.092e+01;QD=2.19;ReadPosRankSum=-1.082e+00;SOR=1.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:819,0,0:819:99:.:.:0,120,1800,120,1800,1800	18	0	1	1
chr3	195786846	195786846	A	0	exonic	MUC4	.	.	.	.	.	557	954	6	0	5	11	0.0031348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2385.42	490	chr3	195786846	.	A	G,*	2385.42	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=4.04;DP=9324;ExcessHet=0.1128;FS=3.754;InbreedingCoeff=-0.0526;MLEAC=1,1;MLEAF=0.025,0.025;MQ=57.23;MQRankSum=-1.114e+01;QD=1.93;ReadPosRankSum=-2.126e+00;SOR=1.059	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:819,0,0:819:99:.:.:0,120,1800,120,1800,1800	18	0	1	1
chr3	195786859	195786860	GG	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.4720_4721del:p.P1574Ffs*23	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.793e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.333e-05	4.622e-05	0	2.728e-05	0.0002	2.22e-06	8.3e-07	.	.	0	0	0	0	0	0	0	1.483e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1708.38	490	chr3	195786858	.	AGG	A,*	1708.38	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=3.20;DP=9310;ExcessHet=0.1128;FS=3.943;InbreedingCoeff=-0.0526;MLEAC=1,1;MLEAF=0.025,0.025;MQ=57.10;MQRankSum=-1.212e+01;QD=1.40;ReadPosRankSum=-3.568e+00;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:819,0,0:819:99:.:.:0,120,1800,120,1800,1800	18	0	1	1
chr3	195786858	195786860	AGG	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1708.38	490	chr3	195786858	.	AGG	A,*	1708.38	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=3.20;DP=9310;ExcessHet=0.1128;FS=3.943;InbreedingCoeff=-0.0526;MLEAC=1,1;MLEAF=0.025,0.025;MQ=57.10;MQRankSum=-1.212e+01;QD=1.40;ReadPosRankSum=-3.568e+00;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:819,0,0:819:99:.:.:0,120,1800,120,1800,1800	18	0	1	1
chr3	195786862	195786862	-	A	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.4717_4718insT:p.S1573Mfs*25	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.795e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	7.291e-06	4.177e-05	0	1.492e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1579.66	490	chr3	195786862	.	C	CA	1579.66	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.18;DP=8807;ExcessHet=0.0000;FS=30.376;InbreedingCoeff=-0.0390;MLEAC=1;MLEAF=0.026;MQ=57.08;MQRankSum=-1.177e+01;QD=6.37;ReadPosRankSum=-3.998e+00;SOR=2.207	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:819,0:819:99:.:.:0,120,1800	18	0	1	2
chr3	195786863	195786863	-	C	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.4716_4717insG:p.S1573Efs*25	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.794e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.947e-06	4.061e-05	0	1.42e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1579.66	490	chr3	195786863	.	T	TC	1579.66	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.91;DP=8808;ExcessHet=0.0000;FS=30.376;InbreedingCoeff=-0.0390;MLEAC=1;MLEAF=0.026;MQ=57.03;MQRankSum=-1.177e+01;QD=6.37;ReadPosRankSum=-3.744e+00;SOR=2.207	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:819,0:819:99:.:.:0,120,1800	18	0	1	2
chr3	195786871	195786871	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C4709A:p.P1570H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.992	D	0.893	P	.	.	1.000	N	-0.55	N	1.5	T	-1.038	T	0.049	T	0.137	0.628	7.377	.	0.088	1.629	5.868	0.086	0.00507056142917	.	.	8.894e-05	0.0005	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs773124584	3.632e-06	1.922e-05	4.299e-06	2.947e-06	8.63e-05	1.06e-06	7.7e-07	2.287e-05	1.234e-05	3.304e-05	0	0	8.63e-05	0	0	0	1.76e-05	0	8.782e-05	0.0004	6.615e-05	0.0001	0.0004	5.19e-05	4.065e-05	0.0001	8.932e-05	0.0002	0	6.699e-05	0	0	0	0	1.488e-05	0	0.0004	0.012	0.54683	D	0.036	0.52060	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.5	0.31205	T	-0.2	0.10136	N	0.135	0.13198	-1.0378	0.17985	T	0.049	0.20868	T	7	0.05948651	0.07159	T	0.005071	0.12846	T	0.086	0.25016	.	.	0.0401082797425	0.02173	4.3537125455748944E-4	0.00039	.	.	0.468236267567	0.34438	T	.	.	.	-0.244634	0.14764	T	-0.589176	0.13737	T	0.130622121584514	0.15440	T	0.586341	0.21412	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27613	B	.;.	.;.	1.490374	0.19171	14.13	0.90064103766213732	0.19349	0.07333	0.13354	N	AEFBI	0.120060	0.23405	N	-0.764604173434575	0.14239	0.7077127	-0.996809924664428	0.09856	0.4928598	2.08741482897962E-4	0.05948	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	2.665000	0.46456	-0.422000	0.09278	0.177000	0.17786	0.072000	0.22128	0.000000	0.08366	0.003000	0.05239	8.0E-4:0.0:0.9992:0.0	5.868	0.18034	604	0.67577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	1002.7	490	chr3	195786871	.	G	T	1002.7	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=8787;ExcessHet=0.0000;FS=46.552;InbreedingCoeff=-0.0390;MLEAC=1;MLEAF=0.026;MQ=56.78;MQRankSum=-1.224e+01;QD=4.46;ReadPosRankSum=-4.490e+00;SOR=3.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:819,0:819:99:.:.:0,120,1800	18	0	1	2
chr3	195787238	195787238	C	0	exonic	MUC4	.	.	.	.	.	932	298	197	67	28	359	0.357066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	3246.35	24	chr3	195787238	.	C	A,*	3246.35	.	AC=16,3;AF=0.421,0.079;AN=38;BaseQRankSum=1.49;DP=300;ExcessHet=2.6629;FS=47.055;InbreedingCoeff=-0.1962;MLEAC=18,3;MLEAF=0.474,0.079;MQ=37.84;MQRankSum=1.47;QD=13.47;ReadPosRankSum=-3.110e-01;SOR=1.282	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:2,0,6:8:60:0|1:195787233_TGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC_T:246,252,331,0,79,60:195787233	4	2	10	2
chr3	195787273	195787273	T	0	exonic	MUC4	.	.	.	.	.	903	371	151	74	23	322	0.287224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2873.59	19	chr3	195787273	.	T	*,C	2873.59	.	AC=4,15;AF=0.100,0.375;AN=40;BaseQRankSum=-3.190e-01;DP=324;ExcessHet=0.7352;FS=61.659;InbreedingCoeff=-0.0399;MLEAC=5,17;MLEAF=0.125,0.425;MQ=37.78;MQRankSum=1.27;QD=11.54;ReadPosRankSum=-6.730e-01;SOR=0.049	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,6,1:7:24:.:.:289,39,24,252,0,249	6	0	1	1
chr3	195787579	195787579	G	0	exonic	MUC4	.	.	.	.	.	46	100	18	19	43	99	0.21875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5357	1237.73	147	chr3	195787579	.	G	A,*	1237.73	.	AC=2,13;AF=0.071,0.464;AN=28;DP=1766;ExcessHet=0.0393;FS=10.568;InbreedingCoeff=0.2243;MLEAC=3,17;MLEAF=0.107,0.607;MQ=51.08;QD=1.06;SOR=1.344	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:1,0,43:44:99:1|1:195787508_T_C:1926,1929,1935,123,129,0:195787508	4	1	0	7
chr3	195787584	195787584	A	0	exonic	MUC4	.	.	.	.	.	854	418	49	62	139	312	0.171457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5769	923.51	147	chr3	195787584	.	A	G,*	923.51	.	AC=2,13;AF=0.077,0.500;AN=26;DP=1759;ExcessHet=0.0610;FS=9.265;InbreedingCoeff=0.2100;MLEAC=3,18;MLEAF=0.115,0.692;MQ=48.44;QD=0.79;SOR=1.346	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:1,0,43:44:99:1|1:195787508_T_C:1926,1929,1935,123,129,0:195787508	3	1	0	8
chr3	195787599	195787601	CAT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3979_3981del:p.M1327del	.	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1355836000	0.0028	0.0097	0.0026	0.0030	0.0064	0.0027	0.0026	0.0058	0.0056	0.0041	0.0014	0.0050	0.0059	0.0033	0.0007	0.0022	0.0031	0.0064	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	291.59	147	chr3	195787598	.	GCAT	G,*	291.59	.	AC=2,13;AF=0.067,0.433;AN=30;DP=1745;ExcessHet=0.0261;FS=9.236;InbreedingCoeff=0.2448;MLEAC=2,17;MLEAF=0.067,0.567;MQ=43.03;QD=0.25;SOR=1.314	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:1,0,43:44:99:1|1:195787508_T_C:1926,1929,1935,123,129,0:195787508	5	1	0	6
chr3	195787598	195787601	GCAT	0	exonic	MUC4	.	.	.	.	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	291.59	147	chr3	195787598	.	GCAT	G,*	291.59	.	AC=2,13;AF=0.067,0.433;AN=30;DP=1745;ExcessHet=0.0261;FS=9.236;InbreedingCoeff=0.2448;MLEAC=2,17;MLEAF=0.067,0.567;MQ=43.03;QD=0.25;SOR=1.314	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:1,0,43:44:99:1|1:195787508_T_C:1926,1929,1935,123,129,0:195787508	5	1	0	6
chr3	195787606	195787606	T	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A3974T:p.D1325V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.618	P	0.063	B	.	.	1.000	N	0.55	N	1.38	T	-1.052	T	0.035	T	0.11	-0.198	3.040	-0.624	-0.525	0.027	2.146	0.013	0.000655979915957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.629e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.38	0.34253	T	-0.3	0.11913	N	0.123	0.17966	-1.0518	0.13899	T	0.035	0.14900	T	8	0.093527794	0.16559	T	6.56E-4	0.00350	T	0.013	0.01715	0.28	0.23483	0.0297737177859	0.01360	0.001541378116443626	0.00142	.	.	0.48179396987	0.36304	T	.	.	.	-0.289584	0.09678	T	-0.653744	0.08694	T	0.0826538188049675	0.10323	T	0.857114	0.54640	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.46881	B	.;.	.;.	1.459843	0.18824	13.94	0.59291013908831258	0.06190	0.00314	0.01657	N	AEFI	0.054323	0.09869	N	-1.11385691208119	0.06395	0.2942896	-1.29352653674177	0.04517	0.2132571	1.2593949137403E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.312	-0.624	0.10972	-1.272000	0.02933	-8.260000	0.01000	0.060000	0.17535	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.0:0.3267:0.3426:0.3306	2.146	0.03555	604	0.67577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05556	114.43	147	chr3	195787606	.	T	A	114.43	.	AC=2;AF=0.056;AN=36;DP=620;ExcessHet=0.0000;FS=4.450;InbreedingCoeff=0.6303;MLEAC=1;MLEAF=0.028;MQ=33.75;QD=31.55;SOR=1.192	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:2,0:2:6:.:.:0,6,82	17	1	0	3
chr3	195787651	195787651	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C3929T:p.A1310V	.	.	677	844	1	0	0	1	0.000592066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	B	0.0	B	.	.	1.000	N	0.55	N	1.59	T	-1.002	T	0.036	T	0.084	0.551	6.979	-0.624	-0.514	-0.243	3.746	0.007	0.000987050074551	.	.	.	.	.	.	.	.	.	.	0.0016521	43	26028	rs369467782	3.43e-05	0.0002	2.508e-05	4.323e-05	0.0004	2.353e-05	1.989e-05	0.0001	8.902e-05	0	3.514e-05	0	0	3.206e-05	0.0004	1.547e-05	6.183e-05	0.0002	0	1.069e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.473	0.08408	T	0.037	0.52060	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.59	0.29085	T	-0.13	0.08971	N	0.143	0.14338	-1.0020	0.29342	T	0.036	0.15596	T	8	0.006201923	0.00140	T	9.87E-4	0.01050	T	0.007	0.00512	0.187	0.09646	0.0138822411134	0.00435	2.6768136789778523E-4	0.00023	.	.	0.474425941706	0.35290	T	.	.	.	-0.352028	0.04601	T	-0.74344	0.03747	T	0.00168162824946241	0.00017	T	0.69993	0.30971	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.21163	B	.;.	.;.	0.290615	0.06670	3.171	0.96924675166215379	0.31632	0.00200	0.01150	N	AEFI	0.041652	0.06360	N	-1.3137078862287	0.03517	0.1572585	-1.43402867846011	0.02918	0.1351418	1.26513995383553E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.312	-0.624	0.10972	-0.350000	0.07769	-7.353000	0.01175	0.177000	0.17786	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.661:0.0:0.339:0.0	3.746	0.08074	604	0.67577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.0625	73.23	45	chr3	195787651	.	G	A	73.23	.	AC=2;AF=0.063;AN=32;DP=463;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5482;MLEAC=1;MLEAF=0.031;MQ=36.67;QD=28.12;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	./.	15	1	0	5
chr3	195787858	195787905	GCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3675_3722del:p.D1228_T1243del	.	.	845	542	82	39	14	174	0.128617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0016	8.86e-05	0.0001	0.0002	8.685e-05	7.777e-05	7.503e-05	6.47e-05	0.0002	0.0001	0.0002	0.0001	0.0002	0	0.0001	0.0002	2.234e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	3048.65	24	chr3	195787857	.	TGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	T,AGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	3048.65	.	AC=2,12;AF=0.059,0.353;AN=34;BaseQRankSum=1.44;DP=324;ExcessHet=0.6984;FS=37.858;InbreedingCoeff=0.0268;MLEAC=2,14;MLEAF=0.059,0.412;MQ=36.04;MQRankSum=0.122;QD=17.13;ReadPosRankSum=0.506;SOR=4.512	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,4:4:12:1|1:195787857_T_A:180,180,180,12,12,0:195787857	6	0	1	4
chr3	195787858	195787858	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C3722T:p.A1241V	.	.	754	726	24	4	14	46	0.0215633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.805	P	0.483	P	.	.	1.000	N	0.55	N	1.56	T	-1.063	T	0.045	T	0.178	0.458	6.489	.	-1.696	-0.727	5.179	0.057	0.00310099407166	.	.	0.0027	0.0060	0	0	0	0.0019	0	0.0043	2.59e-05	4	154602	rs200470030	0.0005	0.0029	0.0005	0.0004	0.0012	0.0004	0.0004	0.0005	0.0004	0.0006	0.0004	0.0005	0.0007	0.0004	0.0012	0.0004	0.0006	0.0004	0.0003	0.0014	0.0004	0.0002	0.0015	7.729e-05	4.082e-05	0.0003	0.0001	0	0	0.0015	0	0	0	0	0.0002	0	0	0.011	0.55530	D	0.075	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.19694	N	.	.	.	1.56	0.29866	T	-0.13	0.08971	N	0.1	0.08227	-1.0627	0.11093	T	0.045	0.19152	T	7	0.004917234	0.00105	T	0.003101	0.06726	T	0.057	0.16321	0.128	0.03331	0.0138822411134	0.00435	5.679174612668311E-5	0.00004	.	.	0.449930310249	0.31934	T	.	.	.	-0.280489	0.10615	T	-0.64068	0.09619	T	0.0155058956420158	0.00350	T	0.634936	0.24909	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.16099	B	.;.	.;.	-0.403259	0.02200	0.219	0.97017531814541358	0.32010	0.00104	0.00666	N	AEFI	0.027497	0.02257	N	-1.45731490531687	0.02160	0.09506899	-1.67235334149452	0.01265	0.05701407	1.15719927465646E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-1.222000	0.03074	-10.294000	0.00717	-1.958000	0.00478	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.2757:0.0:0.7243:0.0	5.179	0.14479	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.1562	258.65	24	chr3	195787858	.	G	A,*	258.65	.	AC=2,3;AF=0.063,0.094;AN=32;BaseQRankSum=-1.668e+00;DP=327;ExcessHet=1.3000;FS=32.558;InbreedingCoeff=-0.1252;MLEAC=2,4;MLEAF=0.063,0.125;MQ=36.65;MQRankSum=-8.500e-02;QD=3.45;ReadPosRankSum=-4.920e-01;SOR=5.247	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:4,0,0:4:12:.:.:0,12,165,12,165,165	11	0	2	5
chr3	195787858	195787858	G	0	exonic	MUC4	.	.	.	.	.	754	726	24	4	14	46	0.0215633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	258.65	24	chr3	195787858	.	G	A,*	258.65	.	AC=2,3;AF=0.063,0.094;AN=32;BaseQRankSum=-1.668e+00;DP=327;ExcessHet=1.3000;FS=32.558;InbreedingCoeff=-0.1252;MLEAC=2,4;MLEAF=0.063,0.125;MQ=36.65;MQRankSum=-8.500e-02;QD=3.45;ReadPosRankSum=-4.920e-01;SOR=5.247	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:4,0,0:4:12:.:.:0,12,165,12,165,165	11	0	2	5
chr3	195787862	195787862	C	0	exonic	MUC4	.	.	.	.	.	915	430	100	76	1	253	0.226619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4667	2681.94	24	chr3	195787862	.	C	A,*	2681.94	.	AC=13,2;AF=0.433,0.067;AN=30;BaseQRankSum=-2.400e-01;DP=304;ExcessHet=0.3122;FS=39.025;InbreedingCoeff=0.0321;MLEAC=16,3;MLEAF=0.533,0.100;MQ=35.60;MQRankSum=-7.000e-02;QD=16.16;ReadPosRankSum=0.623;SOR=4.592	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,4,0:4:12:1|1:195787857_T_A:180,12,0,180,12,180:195787857	4	3	6	6
chr3	195787867	195787867	-	CATC	exonic	MUC4	.	stopgain	MUC4:NM_018406:exon2:c.3712_3713insGATG:p.P1238Rfs*41	.	.	681	826	12	2	1	17	0.00959233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.935e-05	0.0010	4.972e-05	0.0001	0.0002	5.977e-05	5.261e-05	0.0001	8.347e-05	9.055e-05	7.944e-05	0	0.0002	6.932e-05	0	5.024e-05	0.0002	0.0002	0	9.717e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	179.75	24	chr3	195787867	.	G	GCATC,*	179.75	.	AC=1,1;AF=0.029,0.029;AN=34;BaseQRankSum=1.57;DP=317;ExcessHet=0.1190;FS=7.531;InbreedingCoeff=-0.1062;MLEAC=1,1;MLEAF=0.029,0.029;MQ=37.04;MQRankSum=-1.910e-01;QD=5.14;ReadPosRankSum=-1.225e+00;SOR=2.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:4,0,0:4:12:.:.:0,12,152,12,152,152	15	0	1	4
chr3	195787867	195787867	G	0	exonic	MUC4	.	.	.	.	.	681	826	12	2	1	17	0.00959233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	179.75	24	chr3	195787867	.	G	GCATC,*	179.75	.	AC=1,1;AF=0.029,0.029;AN=34;BaseQRankSum=1.57;DP=317;ExcessHet=0.1190;FS=7.531;InbreedingCoeff=-0.1062;MLEAC=1,1;MLEAF=0.029,0.029;MQ=37.04;MQRankSum=-1.910e-01;QD=5.14;ReadPosRankSum=-1.225e+00;SOR=2.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:4,0,0:4:12:.:.:0,12,152,12,152,152	15	0	1	4
chr3	195787871	195787871	T	0	exonic	MUC4	.	.	.	.	.	729	783	3	6	1	16	0.00948767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	62.06	24	chr3	195787871	.	T	*,C	62.06	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=0.228;DP=321;ExcessHet=0.1336;FS=5.195;InbreedingCoeff=-0.1159;MLEAC=1,1;MLEAF=0.031,0.031;MQ=34.40;MQRankSum=0.208;QD=1.41;ReadPosRankSum=-3.100e-01;SOR=1.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:4,0,0:4:12:.:.:0,12,142,12,142,142	14	0	1	5
chr3	195787897	195787897	T	0	exonic	MUC4	.	.	.	.	.	830	484	108	98	2	306	0.238994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4090.56	24	chr3	195787897	.	T	*,C	4090.56	.	AC=2,16;AF=0.059,0.471;AN=34;BaseQRankSum=-3.270e-01;DP=455;ExcessHet=0.3330;FS=31.908;InbreedingCoeff=0.0493;MLEAC=2,18;MLEAF=0.059,0.529;MQ=36.91;MQRankSum=-3.460e-01;QD=16.17;ReadPosRankSum=0.153;SOR=4.157	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,7:7:21:1|1:195787857_T_A:292,292,292,21,21,0:195787857	4	0	1	4
chr3	195788016	195788016	-	GTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGCAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGCATCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTG	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.3563_3564insCAGCCTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCTTGTCACCGATGCTTCCTCAGCATCCACAGGTCAGGCCACCCCTCTGCCTGTCACTAGCCCTTCCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGTCAC:p.S1189_P1190insLSSVSTGDTTPLLVTDASSASTGQATPLPVTSPSSASTGDTTPLPVTS	.	.	584	914	19	4	1	28	0.0145553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0621	0.0037	0	0.0008	0.0019	0	0	.	.	.	.	0.0004	0.0015	0.0005	0.0003	0.0049	0.0003	0.0003	0.0038	0.0034	0.0049	0.0004	0.0012	0	0.0002	0.0013	0.0003	0.0010	7.675e-05	2.706e-05	0.0006	0	5.548e-05	.	0	0	.	.	0	0	0	0.0009	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	1247.51	48	chr3	195788016	.	A	AGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGCAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGCATCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTG	1247.51	.	AC=1;AF=0.029;AN=34;DP=1319;ExcessHet=0.0000;FS=1.710;InbreedingCoeff=0.1592;MLEAC=1;MLEAF=0.029;MQ=38.93;MQRankSum=-1.207e+00;QD=16.63;ReadPosRankSum=-7.555e+00;SOR=0.408	GT:AD:DP:GQ:PL	./.:102,0:102:0:0,0,0	16	0	1	4
chr3	195788086	195788277	TGACCTGTGGATGCTGAGGAAGCATCAGTGACATGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCG	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3303_3494del:p.H1101_G1164del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.379e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	1523.5	190	chr3	195788085	.	CTGACCTGTGGATGCTGAGGAAGCATCAGTGACATGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCG	C	1523.5	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.238e+00;DP=3365;ExcessHet=0.0000;FS=7.739;InbreedingCoeff=-0.0668;MLEAC=1;MLEAF=0.029;MQ=55.87;MQRankSum=-6.883e+00;QD=2.12;ReadPosRankSum=-4.201e+00;SOR=1.468	GT:AD:DP:GQ:PL	./.:92,0:92:0:0,0,2350	16	0	1	4
chr3	195788132	195788132	T	0	exonic	MUC4	.	.	.	.	.	595	698	124	3	102	232	0.08519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	6578.57	769	chr3	195788132	.	T	C,*	6578.57	.	AC=7,3;AF=0.219,0.094;AN=32;BaseQRankSum=4.36;DP=5689;ExcessHet=7.5380;FS=5.019;InbreedingCoeff=-0.3295;MLEAC=9,4;MLEAF=0.281,0.125;MQ=54.21;MQRankSum=-8.605e+00;QD=1.86;ReadPosRankSum=1.06;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:614,0,153:767:99:0|1:195788077_G_A:3177,5023,30174,0,25151,24747:195788077	6	0	7	5
chr3	195788137	195788137	C	0	exonic	MUC4	.	.	.	.	.	502	872	56	8	84	156	0.0396476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1538	1689.47	769	chr3	195788137	.	C	*,G	1689.47	.	AC=3,2;AF=0.115,0.077;AN=26;BaseQRankSum=1.29;DP=5207;ExcessHet=0.0568;FS=3.338;InbreedingCoeff=0.0920;MLEAC=4,3;MLEAF=0.154,0.115;MQ=52.67;MQRankSum=3.15;QD=0.89;ReadPosRankSum=0.759;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:2,145,52:199:99:.:.:6400,1576,2037,4892,0,4782	9	0	2	8
chr3	195788146	195788146	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3077	5085.53	769	chr3	195788146	.	A	G,*	5085.53	.	AC=6,2;AF=0.231,0.077;AN=26;BaseQRankSum=5.31;DP=5652;ExcessHet=4.3158;FS=6.139;InbreedingCoeff=-0.2994;MLEAC=8,3;MLEAF=0.308,0.115;MQ=54.57;MQRankSum=-9.562e+00;QD=1.82;ReadPosRankSum=-6.330e-01;SOR=1.197	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:189,0,0:189:0:.:.:0,0,0,0,0,0	5	0	6	8
chr3	195788160	195788160	G	0	exonic	MUC4	.	.	.	.	.	491	837	111	0	83	194	0.0621849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3337.77	769	chr3	195788160	.	G	A,*	3337.77	.	AC=6,2;AF=0.188,0.063;AN=32;BaseQRankSum=4.67;DP=6056;ExcessHet=4.3158;FS=5.294;InbreedingCoeff=-0.2121;MLEAC=7,2;MLEAF=0.219,0.063;MQ=55.72;MQRankSum=-1.019e+01;QD=1.10;ReadPosRankSum=-3.087e+00;SOR=1.145	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:189,0,0:189:0:.:.:0,0,0,0,0,0	8	0	6	5
chr3	195788174	195788174	-	GGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGG	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.3405_3406insCCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTCACGCCACC:p.T1135_S1136insPLPVTDTSSASTGHAT	.	.	488	888	63	0	83	146	0.0342577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.555e-05	0.0009	0	0	0	0	0	0	.	.	.	rs771837975	2.281e-05	3.548e-05	2.724e-05	1.804e-05	0.0009	1.466e-05	1.244e-05	0.0005	0.0004	0.0009	0.0002	0	0	0	0	0	9.08e-05	2.878e-05	0.0006	0.0007	0.0009	0.0003	0.0030	0.0003	0.0002	0.0016	0.0012	0.0030	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	4342.47	769	chr3	195788174	.	A	AGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGG,G,*	4342.47	.	AC=1,1,2;AF=0.031,0.031,0.063;AN=32;BaseQRankSum=-2.450e-01;DP=6545;ExcessHet=0.8031;FS=4.477;InbreedingCoeff=0.0186;MLEAC=1,1,2;MLEAF=0.031,0.031,0.063;MQ=56.80;MQRankSum=-7.739e+00;QD=2.23;ReadPosRankSum=-3.187e+00;SOR=1.027	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:189,0,0,0:189:0:.:.:0,0,0,0,0,0,0,0,0,0	12	0	1	5
chr3	195788174	195788174	A	0	exonic	MUC4	.	.	.	.	.	488	888	63	0	83	146	0.0342577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	4342.47	769	chr3	195788174	.	A	AGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGG,G,*	4342.47	.	AC=1,1,2;AF=0.031,0.031,0.063;AN=32;BaseQRankSum=-2.450e-01;DP=6545;ExcessHet=0.8031;FS=4.477;InbreedingCoeff=0.0186;MLEAC=1,1,2;MLEAF=0.031,0.031,0.063;MQ=56.80;MQRankSum=-7.739e+00;QD=2.23;ReadPosRankSum=-3.187e+00;SOR=1.027	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:189,0,0,0:189:0:.:.:0,0,0,0,0,0,0,0,0,0	12	0	1	5
chr3	195788251	195788251	G	0	exonic	MUC4	.	.	.	.	.	489	878	72	7	76	162	0.0466884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	14334.43	769	chr3	195788251	.	G	C,*	14334.43	.	AC=2,1;AF=0.059,0.029;AN=34;BaseQRankSum=-1.805e+00;DP=7394;ExcessHet=0.3892;FS=1.795;InbreedingCoeff=0.1217;MLEAC=2,1;MLEAF=0.059,0.029;MQ=58.66;MQRankSum=1.54;QD=8.37;ReadPosRankSum=-1.017e+00;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:189,0,0:189:0:.:.:0,0,0,0,0,0	14	0	2	4
chr3	195788517	195788564	GTGACCTGTGGATACTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3016_3063del:p.A1006_H1021del	.	.	448	1065	6	0	3	9	0.00280899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0015	0.0042	0.0017	0.0022	0.0042	0	0.0004	.	.	.	rs757424802	0.0008	0.0029	0.0009	0.0008	0.0030	0.0008	0.0008	0.0016	0.0012	0.0004	0.0014	0.0005	0.0016	0.0004	0.0030	0.0008	0.0007	0.0006	0.0004	0.0009	0.0004	0.0005	0.0014	0.0003	0.0003	0.0004	0.0003	0.0006	0	0.0010	0	0.0014	0	0	0.0002	0.0013	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5331.07	399	chr3	195788516	.	TGTGACCTGTGGATACTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGC	T,*	5331.07	.	AC=1,2;AF=0.056,0.111;AN=18;BaseQRankSum=2.15;DP=7802;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=2,3;MLEAF=0.111,0.167;MQ=59.18;MQRankSum=-5.023e+00;QD=4.78;ReadPosRankSum=0.456;SOR=0.693	GT:AD:DP:GQ:PL	./.:485,0,0:485:0:0,0,8823,0,8823,8823	6	0	1	12
chr3	195788516	195788564	TGTGACCTGTGGATACTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGC	0	exonic	MUC4	.	.	.	.	.	448	1065	6	0	3	9	0.00280899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5331.07	399	chr3	195788516	.	TGTGACCTGTGGATACTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGC	T,*	5331.07	.	AC=1,2;AF=0.056,0.111;AN=18;BaseQRankSum=2.15;DP=7802;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=2,3;MLEAF=0.111,0.167;MQ=59.18;MQRankSum=-5.023e+00;QD=4.78;ReadPosRankSum=0.456;SOR=0.693	GT:AD:DP:GQ:PL	./.:485,0,0:485:0:0,0,8823,0,8823,8823	6	0	1	12
chr3	195788539	195788541	GGG	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3039_3041del:p.P1014del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.009e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.099e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	58.2	384	chr3	195788538	.	AGGG	A,*	58.2	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=-1.508e+00;DP=8339;ExcessHet=0.6776;FS=0.531;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=0.05;ReadPosRankSum=-1.431e+00;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:569,0,0:569:99:.:.:0,120,1800,120,1800,1800	17	0	1	0
chr3	195788538	195788541	AGGG	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	58.2	384	chr3	195788538	.	AGGG	A,*	58.2	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=-1.508e+00;DP=8339;ExcessHet=0.6776;FS=0.531;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=0.05;ReadPosRankSum=-1.431e+00;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:569,0,0:569:99:.:.:0,120,1800,120,1800,1800	17	0	1	0
chr3	195788543	195788543	-	GTC	exonic;splicing	MUC4;MUC4	NM_001322468:exon3:c.3035+2->GAC	nonframeshift insertion	MUC4:NM_018406:exon2:c.3036_3037insGAC:p.T1012_S1013insD	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.099e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	3.619e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	65.42	350	chr3	195788543	.	T	TGTC,*	65.42	.	AC=1,3;AF=0.071,0.214;AN=14;BaseQRankSum=-3.210e-01;DP=7567;ExcessHet=0.6776;FS=0.531;InbreedingCoeff=-0.3548;MLEAC=2,6;MLEAF=0.143,0.429;MQ=60.00;MQRankSum=0.00;QD=0.06;ReadPosRankSum=-1.811e+00;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:461,0,0:461:0:.:.:0,0,3317,0,3317,3317	3	0	1	14
chr3	195788543	195788543	T	0	exonic;splicing	MUC4;MUC4	NM_001322468:exon3:c.3035+2A>0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	65.42	350	chr3	195788543	.	T	TGTC,*	65.42	.	AC=1,3;AF=0.071,0.214;AN=14;BaseQRankSum=-3.210e-01;DP=7567;ExcessHet=0.6776;FS=0.531;InbreedingCoeff=-0.3548;MLEAC=2,6;MLEAF=0.143,0.429;MQ=60.00;MQRankSum=0.00;QD=0.06;ReadPosRankSum=-1.811e+00;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:461,0,0:461:0:.:.:0,0,3317,0,3317,3317	3	0	1	14
chr3	195788677	195788677	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C2903T:p.T968M	.	.	417	1085	20	0	0	20	0.00913242	.	.	2822249	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.005	B	0.0	B	0.120	N	1.000	N	0	N	1.24	T	-1.030	T	0.034	T	0.213	-0.137	3.330	0.249	-0.015	0.564	3.446	0.034	.	0.0022	0.00499201	0.0032	0.0006	0.0008	0	0	0.0030	0.0052	0.0094	0.0025226	390	154602	rs62282503	0.0027	0.0027	0.0025	0.0029	0.0076	0.0026	0.0026	0.0072	0.0070	0.0007	0.0004	0.0165	5.04e-05	0	0.0057	0.0023	0.0043	0.0076	0.0020	0.0020	0.0021	0.0019	0.0104	0.0018	0.0017	0.0081	0.0073	0.0004	0.0088	0.0009	0.0173	0	0	0.0034	0.0022	0.0014	0.0104	0.0	0.91255	D	0.006	0.70582	D	.	.	.	.	.	.	0.119835	0.02715	N	2.069380	1	0.08975	N	.	.	.	1.24	0.36691	T	-0.6	0.17834	N	0.13	0.26233	-1.0296	0.20583	T	0.034	0.14769	T	10	0.0057825744	0.00129	T	.	.	.	0.034	0.08419	.	.	0.0138822411134	0.00435	0.0031421507045275004	0.00293	.	.	0.356689542532	0.18903	T	.	.	.	-0.546085	0.00308	T	-0.551922	0.17142	T	0.0117893886558595	0.00182	T	0.574643	0.20620	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.18247	B	.;.	.;.	1.057089	0.14384	10.96	0.24927879123083707	0.01125	0.01512	0.04997	N	AEFBI	0.058391	0.10953	N	-1.31518238147632	0.03500	0.1564828	-1.36173198250375	0.03669	0.1716494	1.67131872455135E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567339	0.31927	0	.	.	2.22	0.249	0.14790	0.934000	0.28510	0.036000	0.13800	-0.325000	0.05822	0.005000	0.17040	0.000000	0.08366	0.000000	0.00833	0.1593:0.0:0.5729:0.2679	3.446	0.07050	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	4989.98	199	chr3	195788677	.	G	A	4989.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.57;DP=4138;ExcessHet=0.0000;FS=0.451;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.94;MQRankSum=1.00;QD=18.35;ReadPosRankSum=-9.470e-01;SOR=0.640	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:205,0:205:99:.:.:0,120,1800	20	0	1	0
chr3	195788680	195788680	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C2900G:p.T967S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.004	B	0.0	B	0.002	N	1.000	N	-0.345	N	1.26	T	-1.090	T	0.009	T	0.181	-0.165	3.196	-4.0	-1.465	-1.389	0.755	0.028	.	0.0028	0.00658946	0.0012	0.0134	0.0006	0	0	0	0.0025	0	0.0011319	175	154602	rs145639187	0.0004	0.0004	0.0004	0.0003	0.0128	0.0004	0.0003	0.0118	0.0114	0.0128	0.0008	0	0	0	0.0012	1.529e-05	0.0011	3.484e-05	0.0036	0.0037	0.0036	0.0037	0.0118	0.0034	0.0033	0.0110	0.0106	0.0118	0	0.0037	0	0	0	0	5.881e-05	0.0014	0	0.0	0.91255	D	0.672	0.06265	T	.	.	.	.	.	.	0.001991	0.00848	N	3.753960	1	0.08975	N	.	.	.	1.26	0.36330	T	-0.4	0.13805	N	0.042	0.05162	-1.0904	0.05466	T	0.009	0.03054	T	10	0.0033913255	0.00059	T	.	.	.	0.028	0.06331	0.139	0.04277	0.0138822411134	0.00435	7.562914416904242E-4	0.00069	.	.	0.377678513527	0.21926	T	.	.	.	-0.585277	0.00179	T	-0.603098	0.12552	T	0.0136110763049243	0.00252	T	0.370463	0.08742	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23395	B	.;.	.;.	-1.455710	0.00322	0.006	0.1516783364105285	0.00361	0.00374	0.01900	N	AEFBI	0.050932	0.08950	N	-1.98259026424939	0.00230	0.009881876	-2.03641208469831	0.00256	0.01129737	3.37610804113138E-4	0.06583	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567339	0.31927	0	.	.	2.34	-4.0	0.03787	-1.250000	0.02995	-5.751000	0.01608	-3.702000	0.00065	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1933:0.1479:0.2203:0.4385	0.755	0.00933	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	5140.98	199	chr3	195788680	.	G	C	5140.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.444;DP=4059;ExcessHet=0.0000;FS=3.347;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.97;ReadPosRankSum=0.850;SOR=0.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:205,0:205:99:.:.:0,120,1800	20	0	1	0
chr3	195788852	195788852	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A2728G:p.T910A	.	.	415	1065	42	0	0	42	0.019337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.888	P	0.32	B	0.278	N	1.000	N	0.55	N	0.97	T	-1.105	T	0.018	T	0.081	0.372	6.022	2.78	1.529	0.120	4.692	0.034	.	0.0075	0.0155751	0.0096	0.0194	0.0042	0.0001	0.0002	0.0040	0.0102	0.0390	0.0090232	1395	154602	rs56943541	0.0062	0.0062	0.0051	0.0073	0.0404	0.0061	0.0060	0.0393	0.0388	0.0192	0.0040	0.0082	0.0002	0.0004	0.0156	0.0035	0.0080	0.0404	0.0092	0.0093	0.0089	0.0096	0.0391	0.0088	0.0087	0.0346	0.0328	0.0191	0.0011	0.0060	0.0075	0.0008	0.0003	0.0238	0.0039	0.0128	0.0391	0.0	0.91255	D	0.321	0.19073	T	.	.	.	.	.	.	0.277752	0.15003	N	0.551928	1	0.18198	N	.	.	.	0.96	0.42888	T	-0.5	0.15782	N	0.187	0.41853	-1.1053	0.03507	T	0.018	0.07565	T	10	0.0030997694	0.00051	T	.	.	.	0.034	0.08419	.	.	0.0138822411134	0.00435	0.005676888620947402	0.00537	.	.	0.379200518131	0.22144	T	.	.	.	-0.610085	0.00126	T	-0.619845	0.11197	T	0.0369301723646151	0.03144	T	0.491951	0.15143	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.22208	B	.;.	.;.	1.041610	0.14225	10.80	0.46889329741341601	0.03791	0.01682	0.05369	N	AEFBI	0.057494	0.10715	N	-0.773186617132331	0.14011	0.6945784	-0.859506745960561	0.13059	0.6753832	5.42944761998302E-5	0.04171	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	2.78	2.78	0.31702	1.293000	0.32959	-0.008000	0.13101	0.588000	0.31329	0.010000	0.18352	0.000000	0.08366	0.004000	0.06068	0.0:0.145:0.0:0.855	4.692	0.12168	604	0.67577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	5146.11	67	chr3	195788852	.	T	C	5146.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.19;DP=1580;ExcessHet=0.1072;FS=7.401;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=18.99;ReadPosRankSum=-6.000e-02;SOR=0.852	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:72,0:72:99:.:.:0,120,1800	19	0	2	0
chr3	195867585	195867585	C	T	exonic	TNK2	.	nonsynonymous SNV	TNK2:NM_001308046:exon12:c.G2764A:p.V922M	.	.	.	.	.	.	.	.	.	.	.	251073	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.306	B	0.22	B	0.990	N	0.994	D	0.895	L	2.9	T	-0.810	T	0.231	T	0.155	1.060	9.327	4.74	1.375	0.998	10.545	0.046	.	0.0064	0.000998403	0.0067	0.0025	0.0043	0	0.0019	0.0104	0	0.0008	0.0052069	805	154602	rs148323328	0.0089	0.0088	0.0093	0.0085	0.0110	0.0088	0.0087	0.0108	0.0108	0.0016	0.0020	0.0006	0	0.0018	0.0014	0.0110	0.0055	0.0005	0.0053	0.0053	0.0060	0.0046	0.0098	0.0050	0.0049	0.0092	0.0089	0.0020	0.0121	0.0012	0.0012	0	0.0017	0	0.0098	0.0043	0.0002	0.007	0.63226	D	0.238	0.49120	T	0.141	0.30086	B	0.201	0.36881	B	0.990313	0.08035	N	0.994226	1	0.08975	N	0.69	0.16971	N	2.9	0.74477	T	-0.56	0.21215	N	0.398	0.43899	-0.8102	0.54538	T	0.231	0.59694	T	10	0.0059280396	0.00133	T	.	.	.	0.046	0.12618	.	.	0.839251179855	0.83771	0.5117350421020459	0.51095	0.00655855936216	0.00574	0.616378307343	0.55216	T	0.012358	0.37999	T	-0.43179	0.01446	T	-0.385051	0.35131	T	0.0109015442779047	0.00156	T	0.910609	0.68297	D	0.05792122	0.11589	0.061412994	0.11853	0.05792122	0.11589	0.061412994	0.11852	-4.663	0.32953	T	.	.	0.093	0.22897	B	.;.;.;.	.;.;.;.	1.216411	0.16100	12.32	0.99058566750143018	0.51436	0.04840	0.10571	N	AEFBI	0.076297	0.15345	N	-0.507055904363682	0.21852	1.162671	-0.478743039744065	0.22740	1.236635	0.981114739439646	0.30219	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.61	4.74	0.59717	0.866000	0.27608	0.453000	0.18541	-0.189000	0.09497	0.104000	0.22875	0.000000	0.08366	0.126000	0.19410	0.0:0.9108:0.0:0.0892	10.545	0.44247	889	0.27310	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	462.98	36	chr3	195867585	.	C	T	462.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.275;DP=793;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.85;ReadPosRankSum=1.50;SOR=0.700	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr3	195868011	195868011	G	A	exonic	TNK2	.	nonsynonymous SNV	TNK2:NM_001308046:exon12:c.C2338T:p.R780W	.	.	401	1120	1	0	0	1	0.000446229	.	.	2020807	TNK2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	1.955	M	-0.44	T	-0.216	T	0.416	T	0.58	2.823	15.40	4.1	1.035	3.788	10.986	0.365	0.66346687593	0.0002	0.000399361	0.0008	0	0	0.0005	0	0.0013	0	0.0004	0.0003428	53	154602	rs202015088	0.0004	0.0004	0.0004	0.0004	0.0018	0.0004	0.0004	0.0014	0.0013	6.085e-05	0.0003	0.0086	0.0018	2.478e-05	0.0009	0.0002	0.0009	0.0003	0.0005	0.0005	0.0005	0.0005	0.0006	0.0004	0.0004	0.0002	0.0002	0.0002	0	0.0005	0.0101	0.0006	0	0	0.0003	0.0009	0.0004	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000005	0.62929	D	0.061434	0.999734	0.48635	D	2.05	0.56469	M	-0.44	0.69777	T	-5.43	0.85323	D	0.565	0.58883	-0.2165	0.77245	T	0.416	0.76299	T	10	0.013443083	0.00285	T	0.663467	0.97178	D	0.365	0.68495	.	.	0.92906767235	0.92833	0.38608878466847596	0.38523	0.0325248027016	0.03398	0.836178481579	0.87511	D	0.268049	0.84189	T	-0.149685	0.28361	T	-0.14041	0.60082	T	0.284063249826431	0.24342	T	0.974103	0.90741	D	0.36661342	0.58334	0.29224676	0.55251	0.36661342	0.58334	0.29224676	0.55250	-10.297	0.75671	D	.	.	0.397	0.59415	A	.;.;.;.	.;.;.;.	4.000828	0.58953	24.0	0.99898999595798899	0.97124	0.97124	0.72830	D	AEFDBI	0.792571	0.72083	D	0.436182356871003	0.63423	4.575795	0.361901410264534	0.59228	4.098875	0.997822298415989	0.36074	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.01	4.1	0.47196	2.778000	0.47412	2.393000	0.32551	0.669000	0.69127	1.000000	0.71638	0.997000	0.33255	0.275000	0.23893	0.0:0.0:0.6045:0.3955	10.986	0.46737	884	0.28482	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	759.98	59	chr3	195868011	.	G	A	759.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.56;DP=976;ExcessHet=0.0000;FS=8.349;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.86;ReadPosRankSum=-4.290e-01;SOR=1.402	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr3	195868026	195868026	C	T	exonic	TNK2	.	nonsynonymous SNV	TNK2:NM_001308046:exon12:c.G2323A:p.V775I	.	.	404	1115	3	0	0	3	0.00134348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.987	D	0.718	P	0.000	D	1.000	D	1.085	L	0.02	T	-0.790	T	0.224	T	0.202	0.790	8.164	5.01	2.336	3.118	10.606	0.066	.	.	0.00199681	0.0024	0	0.0006	0	0	6.561e-05	0	0.0113	0.0010673	165	154602	rs374516264	0.0006	0.0006	0.0004	0.0009	0.0098	0.0006	0.0006	0.0093	0.0091	3.015e-05	0	0	0	0	0	4.528e-06	0.0007	0.0098	0.0003	0.0003	0.0001	0.0006	0.0100	0.0003	0.0002	0.0077	0.0069	2.41e-05	0	6.544e-05	0	0	0	0	0	0	0.0100	0.255	0.20988	T	0.383	0.15842	T	0.1	0.40310	B	0.038	0.38015	B	0.000100	0.51296	D	0.132319	0.605194	0.30907	N	1.09	0.27330	L	0.02	0.62318	T	-0.42	0.14193	N	0.254	0.28965	-0.7898	0.55741	T	0.224	0.58830	T	10	0.008366138	0.00190	T	.	.	.	0.066	0.19193	0.325	0.30711	0.892865083199	0.89180	0.07277636421169242	0.07214	0.0273910062881	0.02796	0.697601079941	0.66798	T	0.010425	0.37623	T	-0.444379	0.01219	T	-0.403135	0.33020	T	0.050120169936457	0.05522	T	0.90061	0.65471	D	0.052386805	0.09761	0.042214483	0.04976	0.052386805	0.09761	0.042214483	0.04976	-6.235	0.48205	T	.	.	0.099	0.18206	B	.;.;.;.	.;.;.;.	2.282722	0.29193	18.04	0.95765105423950136	0.27762	0.93491	0.58361	D	AEFDBI	0.258221	0.37681	N	-0.0399630058004559	0.40051	2.372041	0.0396837988985944	0.41576	2.500129	0.999487585662999	0.39952	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.01	5.01	0.66477	3.202000	0.50769	3.994000	0.41014	0.593000	0.32247	0.988000	0.36536	0.999000	0.35428	0.086000	0.17578	0.0:0.9106:0.0:0.0894	10.606	0.44586	884	0.28482	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1182.98	59	chr3	195868026	.	C	T	1182.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.544e+00;DP=992;ExcessHet=0.0000;FS=1.017;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.48;ReadPosRankSum=-1.588e+00;SOR=0.764	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr3	195868217	195868217	G	A	exonic	TNK2	.	nonsynonymous SNV	TNK2:NM_001308046:exon12:c.C2132T:p.P711L	.	.	.	.	.	.	.	.	.	.	.	2030693	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.37	T	0.0	B	0.0	B	0.371	N	1.000	N	0.55	N	0.9	T	-1.065	T	0.051	T	0.109	0.415	6.251	-5.12	-0.724	-0.289	1.692	0.024	0.0122304283028	.	.	6.712e-05	0	0.0003	0.0003	0	3.511e-05	0	0	5.17e-05	8	154602	rs769773996	7.357e-05	7.456e-05	7.117e-05	7.598e-05	0.0008	6.212e-05	5.771e-05	0.0006	0.0005	2.992e-05	0.0002	0.0002	0.0008	0	0.0002	4.41e-05	0.0002	3.485e-05	7.893e-05	7.881e-05	5.143e-05	0.0001	0.0001	4.501e-05	3.515e-05	3.252e-05	1.917e-05	9.664e-05	0	0.0001	0.0003	0	0	0	5.887e-05	0.0005	0	0.816	0.04657	T	0.409	0.14588	T	0.0	0.02946	B	0.0	0.01387	B	0.371347	0.04364	N	1.384520	1	0.08975	N	1.1	0.28011	L	0.9	0.45248	T	-1.02	0.26843	N	0.216	0.25867	-1.0650	0.10549	T	0.051	0.21650	T	10	0.05894807	0.07011	T	0.01223	0.30616	T	0.024	0.04979	0.237	0.16760	0.560228584591	0.55684	0.1033322515726728	0.10263	0.00631938553498	0.00551	0.445383250713	0.31313	T	0.020902	0.49759	T	-0.534931	0.00359	T	-0.704446	0.05585	T	0.0147406577131667	0.00308	T	0.589941	0.21689	T	0.017419519	0.00271	0.022636848	0.00284	0.017419519	0.00271	0.022636848	0.00284	-4.773	0.34275	T	.	.	0.053	0.00658	B	.;.;.;.	.;.;.;.	-0.876202	0.00966	0.038	0.80454241376430957	0.13210	0.00929	0.03605	N	AEFDBI	0.030196	0.02993	N	-1.35591913788508	0.03064	0.1362935	-1.38742416817054	0.03385	0.1577993	0.927413608727467	0.26888	0.706548	0.73137	0	0.724815	0.89359	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	5.08	-5.12	0.02674	-1.762000	0.01902	-0.614000	0.08207	-1.915000	0.00511	0.000000	0.06391	0.000000	0.08366	0.040000	0.14268	0.1501:0.3485:0.2725:0.2288	1.692	0.02682	884	0.28482	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1685.98	59	chr3	195868217	.	G	A	1685.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=1565;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.88;ReadPosRankSum=-1.611e+00;SOR=0.648	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr3	195868688	195868688	C	A	exonic	TNK2	.	nonsynonymous SNV	TNK2:NM_001308046:exon12:c.G1661T:p.S554I	.	.	412	1109	1	0	0	1	0.000450653	.	.	1479861	not_provided|TNK2-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	0.995	D	0.854	P	0.001	N	1.000	D	0.55	N	2.88	T	-0.470	T	0.322	T	0.321	1.275	10.16	4.24	1.115	1.124	7.901	0.019	0.193329591814	0.0014	0.000599042	0.0010	0.0005	0.0007	0	0	0.0015	0	0.0004	0.000912	141	154602	rs143787673	0.0016	0.0016	0.0016	0.0016	0.0020	0.0016	0.0016	0.0019	0.0019	0.0003	0.0009	0.0002	0	5.33e-05	0.0011	0.0020	0.0017	0.0002	0.0010	0.0010	0.0010	0.0010	0.0016	0.0009	0.0008	0.0014	0.0013	0.0005	0	0.0011	0.0003	0	0	0	0.0016	0.0009	0.0004	0.048	0.65419	D	0.395	0.23164	T	0.169	0.43819	B	0.021	0.32896	B	0.001334	0.39379	N	0.277928	0.991875	0.25813	N	1.245	0.31408	L	2.88	0.74689	T	-1.21	0.42763	N	0.529	0.55799	-0.4703	0.69714	T	0.322	0.69099	T	10	0.01833117	0.00398	T	0.19333	0.86297	D	0.056	0.15993	.	.	0.931693638153	0.93099	0.27595788354954365	0.27508	0.00615469793322	0.00540	0.569695830345	0.48634	T	0.021808	0.38417	T	-0.343328	0.05160	T	-0.279173	0.46889	T	0.0158065043264269	0.00369	T	0.918208	0.70605	D	0.081235856	0.18654	0.073514126	0.15982	0.081235856	0.18654	0.073514126	0.15982	-6.361	0.49204	T	.	.	0.135	0.34449	B	.;.;.;.;.	.;.;.;.;.	2.941767	0.39120	20.9	0.98559044924875805	0.42948	0.88124	0.47915	D	AEFDBI	0.411784	0.48212	N	-0.13815450014847	0.35739	2.056738	-0.0634576475732439	0.36913	2.154436	0.901399826277156	0.26100	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.15	4.24	0.49486	1.233000	0.32250	5.907000	0.50968	0.547000	0.25779	0.327000	0.25564	1.000000	0.68203	0.892000	0.42986	0.0:0.7492:0.1643:0.0865	7.901	0.28898	884	0.28482	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1635.98	72	chr3	195868688	.	C	A	1635.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.806e+00;DP=1414;ExcessHet=0.0000;FS=8.461;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.30;ReadPosRankSum=-3.140e-01;SOR=0.271	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr3	196198306	196198306	C	T	exonic	ZDHHC19	.	nonsynonymous SNV	ZDHHC19:NM_001039617:exon7:c.G919A:p.G307R,	.	.	429	1077	16	0	0	16	0.00737327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.0	B	0.0	B	.	.	1.000	N	0.895	L	1.42	T	-1.036	T	0.013	T	0.151	0.312	5.693	-0.586	0.025	-1.915	7.313	0.014	.	0.0008	0.0223642	0.0121	0.0004	0.0010	0.0387	0	0.0007	0.0126	0.0980	0.0013648	211	154602	rs74579410	0.0062	0.0064	0.0044	0.0081	0.0837	0.0061	0.0060	0.0819	0.0811	0.0002	0.0002	0.0152	0.0424	2.025e-05	0.0026	0.0003	0.0081	0.0837	0.0046	0.0047	0.0030	0.0064	0.0814	0.0044	0.0042	0.0747	0.0721	0.0002	0	0.0005	0.0153	0.0400	0	0	0.0005	0.0024	0.0814	0.912	0.02355	T	0.183	0.29153	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.42	0.33189	T	-1.65	0.39503	N	0.027	0.00571	-1.0365	0.18388	T	0.013	0.04890	T	9	0.0017765462	0.00023	T	.	.	.	0.014	0.01968	0.256	0.19689	.	.	0.08470183217829699	0.08404	0.336499639747	0.35643	0.330107808113	0.14950	T	0.007665	0.07062	T	-0.667585	0.00057	T	-0.657862	0.08411	T	0.00213412758097204	0.00022	T	0.30057	0.05631	T	0.043942064	0.06937	0.0614835	0.11881	0.043942064	0.06937	0.0614835	0.11881	-4.02	0.24102	T	.	.	0.073	0.04477	B	.	.	-1.052306	0.00700	0.020	0.75964672640293796	0.11280	0.00041	0.00340	N	AEFDBI	0.035798	0.04666	N	-1.19617617547025	0.05058	0.2296897	-1.22752703612585	0.05471	0.2608102	0.996808356190673	0.35023	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.51	-0.586	0.11108	-1.971000	0.01593	-0.597000	0.08290	-0.682000	0.04210	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.4102:0.0:0.5898	7.313	0.25661	749	0.51929	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2635.98	40	chr3	196198306	.	C	T	2635.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.25;DP=1000;ExcessHet=0.0000;FS=0.723;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.54;ReadPosRankSum=0.657;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:70,0:70:99:.:.:0,120,1800	20	0	1	0
chr3	196198312	196198312	T	A	exonic	ZDHHC19	.	nonsynonymous SNV	ZDHHC19:NM_001039617:exon7:c.A913T:p.T305S,	.	.	429	1077	16	0	0	16	0.00737327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-0.69	N	1.55	T	-1.090	T	0.004	T	0.032	-0.814	0.639	-9.02	-4.301	-4.706	3.010	0.012	.	0.0008	0.0223642	0.0121	0.0003	0.0010	0.0386	0	0.0007	0.0126	0.0980	0.0103556	1601	154602	rs117210533	0.0062	0.0064	0.0044	0.0082	0.0862	0.0061	0.0061	0.0844	0.0836	0.0002	0.0002	0.0153	0.0429	2.037e-05	0.0031	0.0003	0.0083	0.0862	0.0047	0.0047	0.0030	0.0064	0.0822	0.0044	0.0043	0.0755	0.0729	0.0002	0	0.0005	0.0153	0.0403	0	0	0.0004	0.0024	0.0822	0.816	0.02989	T	0.288	0.21144	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.55	0.29866	T	0.28	0.04233	N	0.004	0.00025	-1.0903	0.05482	T	0.004	0.01400	T	9	0.0015642345	0.00018	T	.	.	.	0.012	0.01476	0.19	0.10039	.	.	0.109454151172302	0.10874	0.254192981874	0.27987	0.282581090927	0.07855	T	0.001755	0.01176	T	-0.798994	0.00008	T	-0.845723	0.01016	T	0.007664451515336	0.00089	T	0.10429	0.00775	T	0.026184881	0.01644	0.02233805	0.00260	0.026184881	0.01644	0.02233805	0.00260	-2.351	0.04841	T	.	.	0.066	0.02118	B	.	.	-2.319859	0.00048	0.001	0.54108827479105737	0.05072	0.00122	0.00764	N	AEFDBI	0.035220	0.04495	N	-2.62481864043458	0.00008	0.0003536526	-2.67194240623829	0.00009	0.000405702	0.999999999998443	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.51	-9.02	0.00635	-5.107000	0.00177	-1.733000	0.04826	-3.497000	0.00081	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1107:0.3272:0.3183:0.2438	3.010	0.05675	749	0.51929	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2632.98	40	chr3	196198312	.	T	A	2632.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.35;DP=1004;ExcessHet=0.0000;FS=1.538;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.10;ReadPosRankSum=1.16;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:70,0:70:99:.:.:0,120,1800	20	0	1	0
chr3	196207406	196207406	T	C	exonic	ZDHHC19	.	nonsynonymous SNV	ZDHHC19:NM_001039617:exon5:c.A679G:p.K227E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.003	B	0.007	N	0.978	N	-2.345	N	1.73	T	-0.957	T	0.010	T	0.169	-0.769	0.763	3.1	0.681	0.820	7.388	0.028	0.00465815371381	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1390549744	7.093e-07	1.368e-06	1.402e-06	0	1.252e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.252e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.007000	0.31670	N	0.221905	0.978163	0.25266	N	-2.235	0.00114	N	1.73	0.26445	T	3.07	0.00131	N	0.16	0.16725	-0.9566	0.39807	T	0.010	0.03765	T	10	0.023443997	0.00613	T	0.004658	0.11566	T	0.028	0.06331	0.433	0.48336	0.0716867268079	0.06686	0.3247992672046973	0.32392	0.392499206088	0.40429	0.359470307827	0.19309	T	0.001883	0.01299	T	-0.250563	0.14027	T	-0.597693	0.13006	T	0.0474387966096401	0.05044	T	0.430157	0.11673	T	0.062239677	0.12979	0.07419979	0.16208	0.062239677	0.12978	0.07419979	0.16208	1.364	0.00094	T	.	.	0.071	0.03887	B	.	.	1.269021	0.16678	12.69	0.57628217712522767	0.05811	0.06643	0.12660	N	AEFDBHCIJ	0.080297	0.16232	N	-1.17503869544345	0.05379	0.2450901	-0.903696433502946	0.12007	0.61515	0.999999999859486	0.74766	0.72623	0.87236	0	0.475579	0.06741	0	0.594344	0.31042	0	0.554799	0.18163	0	.	.	4.97	3.1	0.34780	0.598000	0.23774	3.674000	0.39446	-0.379000	0.05400	0.059000	0.21734	1.000000	0.68203	0.061000	0.16044	0.0:0.8016:0.0:0.1984	7.388	0.26069	749	0.51929	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	549.98	34	chr3	196207406	.	T	C	549.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.931;DP=764;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=-7.270e-01;SOR=0.765	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1093	20	0	1	0
chr3	196211279	196211279	C	T	exonic	ZDHHC19	.	nonsynonymous SNV	ZDHHC19:NM_001039617:exon1:c.G37A:p.E13K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.675	P	0.173	B	0.381	N	0.996	N	1.935	M	1.46	T	-1.056	T	0.068	T	0.419	2.857	15.52	3.87	1.223	1.260	8.882	0.085	0.00445066047541	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866271851	6.842e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.36509	T	0.02	0.58613	D	0.675	0.41275	P	0.173	0.35463	B	0.381000	0.13389	N	0.660654	0.996113	0.23111	N	1.75	0.45442	L	1.46	0.32238	T	-1.2	0.30555	N	0.139	0.13769	-1.0560	0.12776	T	0.068	0.27980	T	10	0.1071417	0.19888	T	0.004451	0.10906	T	0.085	0.24743	0.431	0.48007	0.0482279557977	0.04254	0.5652425204485402	0.56451	0.322246003001	0.34417	0.370652854443	0.20926	T	0.003289	0.02698	T	-0.158809	0.26943	T	-0.465895	0.25959	T	0.262571901082993	0.23427	T	0.481352	0.14557	T	0.041258603	0.06044	0.08430319	0.19382	0.041258603	0.06043	0.08430319	0.19382	-3.549	0.17125	T	.	.	0.082	0.08512	B	.	.	1.040003	0.14208	10.78	0.99595472678834862	0.73866	0.71609	0.35087	D	AEFDGBI	0.075964	0.15271	N	-0.266751713767635	0.30440	1.697355	-0.333639749818991	0.27020	1.496435	0.999960430037467	0.48965	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.75	3.87	0.43823	0.965000	0.28916	0.651000	0.20416	-0.825000	0.02924	0.296000	0.25288	0.000000	0.08366	0.005000	0.06747	0.0:0.8989:0.0:0.1011	8.882	0.34537	749	0.51929	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	932.98	49	chr3	196211279	.	C	T	932.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=966;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.38;ReadPosRankSum=-1.739e+00;SOR=0.725	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1150	20	0	1	0
chr3	196472505	196472505	C	T	exonic	RNF168	.	nonsynonymous SNV	RNF168:NM_152617:exon6:c.G1030A:p.A344T,	RIDDLE syndrome, Autosomal recessive	.	0	1509	13	0	0	13	0.00428901	.	.	1154427	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.04	D	0.024	B	0.008	B	0.542	N	1.000	N	2.3	M	2.93	T	-1.011	T	0.022	T	0.112	2.265	13.53	0.563	-0.075	-0.329	4.917	0.029	.	7.7e-05	0.0201677	0.0101	0.0003	0.0007	0.0102	0	0	0.0066	0.0681	0.0089197	1379	154602	rs143837151	0.0044	0.0044	0.0026	0.0063	0.0657	0.0043	0.0043	0.0642	0.0637	0.0002	0.0001	0	0.0095	0	0.0023	5.126e-05	0.0051	0.0657	0.0028	0.0028	0.0016	0.0040	0.0704	0.0025	0.0024	0.0642	0.0618	0.0002	0	0.0001	0	0.0123	0	0	5.881e-05	0.0009	0.0704	0.09	0.31987	T	0.17	0.30436	T	0.024	0.19075	B	0.008	0.13708	B	0.542405	0.11522	N	0.782596	1	0.08975	N	1.585	0.39878	L	2.93	0.09822	T	-0.55	0.16799	N	0.08	0.05542	-1.0109	0.26635	T	0.022	0.09421	T	10	0.0034058094	0.00060	T	.	.	.	0.029	0.06676	.	.	.	.	0.10308734749577732	0.10238	0.067048045344	0.07489	0.19515812397	0.00330	T	0.001958	0.01365	T	-0.675578	0.00051	T	-0.692146	0.06266	T	0.00279983423963199	0.00029	T	0.542646	0.18460	T	0.02367948	0.01129	0.033994835	0.02388	0.02367948	0.01129	0.033994835	0.02388	-3.536	0.16940	T	.	.	0.075	0.05579	B	.	.	0.236985	0.06174	2.625	0.97013527114413256	0.31993	0.06090	0.12064	N	AEFDGBI	0.035513	0.04585	N	-0.776778590308673	0.13917	0.6891587	-0.862733429440971	0.12982	0.6709204	0.00192574776603112	0.09011	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.46	0.563	0.16481	-0.283000	0.08467	-0.412000	0.09340	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.1392:0.5775:0.0:0.2833	4.917	0.13205	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	2337.98	35	chr3	196472505	.	C	T	2337.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.060e+00;DP=990;ExcessHet=0.0000;FS=1.151;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=-1.770e-01;SOR=0.587	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr3	196508180	196508180	C	T	exonic	SMCO1	.	nonsynonymous SNV	SMCO1:NM_001077657:exon3:c.G352A:p.V118I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	.	.	1.000	N	-0.625	N	1.64	T	-0.978	T	0.024	T	0.096	-0.684	1.025	-0.038	-0.239	-0.651	8.348	0.019	0.00516792365247	.	.	4.14e-05	0	0	0	0	4.495e-05	0	0.0001	3.88e-05	6	154602	rs753888428	3.762e-05	3.762e-05	3.675e-05	3.85e-05	0.0002	2.959e-05	2.655e-05	9.75e-05	6.95e-05	0.0002	0	0	2.519e-05	3.744e-05	0.0002	2.788e-05	4.967e-05	0.0001	7.886e-05	7.88e-05	5.139e-05	0.0001	7.349e-05	4.497e-05	3.513e-05	2.846e-05	1.858e-05	4.826e-05	0	6.549e-05	0	0	0.0003	0	7.349e-05	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999735	0.20548	N	-1.255	0.00759	N	1.64	0.27822	T	0.6	0.02518	N	0.093	0.07262	-0.9781	0.35435	T	0.024	0.10058	T	9	0.017122835	0.00364	T	0.005168	0.13156	T	0.019	0.03383	0.156	0.05964	0.0401082797425	0.02173	0.02746058571569705	0.02696	0.179331777554	0.20176	.	.	.	0.001863	0.01280	T	-0.477075	0.00770	T	-0.741534	0.03826	T	0.0114550638215996	0.00172	T	0.379762	0.09155	T	0.022508953	0.00919	0.052838717	0.08786	0.022508953	0.00919	0.052838717	0.08785	-3.64	0.18437	T	.	.	0.056	0.00505	B	.	.	-1.173510	0.00558	0.013	0.68934550315838006	0.08812	0.00580	0.02616	N	AEFBI	0.029558	0.02811	N	-1.29323237480109	0.03756	0.168353	-1.15292777822022	0.06716	0.3241799	0.99958126067677	0.40607	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	-0.0385	0.13208	-0.652000	0.05465	-2.361000	0.03851	-0.126000	0.13398	0.000000	0.06391	0.000000	0.08366	0.471000	0.28363	0.0:0.3453:0.0:0.6547	8.348	0.31450	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2780.98	36	chr3	196508180	.	C	T	2780.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.11;DP=900;ExcessHet=0.0000;FS=1.783;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=0.775;SOR=0.554	GT:AD:DP:GQ:PL	0/1:102,103:205:99:2795,0,2324	20	0	1	0
chr3	196508236	196508236	A	G	exonic	SMCO1	.	nonsynonymous SNV	SMCO1:NM_001077657:exon3:c.T296C:p.V99A	.	.	434	1076	12	0	0	12	0.00554529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	.	.	0.985	N	1.04	L	1.06	T	-1.002	T	0.034	T	0.099	1.077	9.398	-1.7	0.319	-0.465	0.916	0.116	.	.	0.0247604	0.0137	0.0002	0.0008	0.0102	0	1.498e-05	0.0078	0.0934	0.011908	1841	154602	rs118152136	0.0060	0.0060	0.0035	0.0085	0.0912	0.0059	0.0059	0.0895	0.0888	0.0003	0.0002	0	0.0096	0	0.0024	6.835e-05	0.0071	0.0912	0.0036	0.0035	0.0019	0.0053	0.0949	0.0033	0.0032	0.0878	0.0849	0.0002	0	0.0001	0	0.0124	0	0	5.88e-05	0.0014	0.0949	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.98502	0.24748	N	1.95	0.52479	M	1.06	0.39781	T	0.67	0.02263	N	0.019	0.00279	-1.0016	0.29459	T	0.034	0.14813	T	9	0.0012427568	0.00014	T	.	.	.	0.116	0.32463	.	.	.	.	0.047299551094572775	0.04672	0.269601559135	0.29478	.	.	.	0.00203	0.01442	T	-0.669071	0.00056	T	-0.66267	0.08086	T	0.00748855217213379	0.00087	T	0.387861	0.09571	T	0.028127715	0.02105	0.058714386	0.10896	0.028127715	0.02104	0.058714386	0.10895	-3.203	0.12517	T	.	.	0.139	0.30450	B	.	.	0.060417	0.04716	1.350	0.86693008397666127	0.16708	0.03899	0.09275	N	AEFDBIJ	0.046932	0.07849	N	-0.860176934644316	0.11800	0.5714887	-0.776231268759997	0.15079	0.7912207	0.999957956758676	0.48110	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	-1.7	0.07721	-0.470000	0.06717	0.153000	0.15315	-0.045000	0.17359	0.000000	0.06391	0.000000	0.08366	0.959000	0.51448	0.2974:0.3144:0.2361:0.1521	0.916	0.01223	824	0.40336	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1833.98	36	chr3	196508236	.	A	G	1833.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=856;ExcessHet=0.0000;FS=4.098;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=0.486;SOR=1.051	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,111,1665	20	0	1	0
chr3	196508294	196508294	C	T	exonic	SMCO1	.	nonsynonymous SNV	SMCO1:NM_001077657:exon3:c.G238A:p.V80I	.	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.265	B	0.03	B	.	.	1.000	N	1.04	L	1.16	T	-1.088	T	0.058	T	0.099	2.123	13.06	4.39	2.550	0.906	8.507	0.029	.	.	0.00399361	0.0015	0	8.661e-05	0	0	0	0.0022	0.0108	0.0013066	202	154602	rs560795170	0.0006	0.0006	0.0003	0.0009	0.0093	0.0006	0.0005	0.0087	0.0085	2.994e-05	0	7.665e-05	0	0	0	8.997e-06	0.0007	0.0093	0.0004	0.0004	0.0002	0.0006	0.0121	0.0003	0.0003	0.0096	0.0087	7.226e-05	0	0	0	0	0	0	1.47e-05	0	0.0121	0.265	0.16305	T	0.375	0.16231	T	0.265	0.31634	B	0.03	0.21741	B	.	.	.	.	1	0.08975	N	2.47	0.71715	M	1.16	0.38073	T	-0.5	0.15782	N	0.08	0.05542	-1.0880	0.05873	T	0.058	0.24502	T	9	0.003527522	0.00063	T	.	.	.	0.029	0.06676	0.184	0.09259	0.0716867268079	0.06686	0.03840676787954685	0.03786	0.189881570677	0.21310	.	.	.	0.007025	0.06451	T	-0.55744	0.00263	T	-0.565538	0.15860	T	0.0390924983810011	0.03527	T	0.59464	0.22023	T	0.036171447	0.04399	0.069208935	0.14551	0.036171447	0.04399	0.069208935	0.14551	-3.518	0.16685	T	.	.	0.117	0.23640	B	.	.	1.968923	0.25009	16.61	0.99763673500591499	0.85254	0.15924	0.19147	N	AEFDBI	0.057108	0.10612	N	-0.454446699847426	0.23589	1.267849	-0.415682043791093	0.24537	1.344176	0.999997262597745	0.74766	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.46	4.39	0.52211	0.934000	0.28510	0.542000	0.19343	0.594000	0.32500	0.374000	0.25957	0.077000	0.22320	0.230000	0.22734	0.0:0.8398:0.0:0.1602	8.507	0.32356	824	0.40336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1088.98	36	chr3	196508294	.	C	T	1088.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.92;DP=790;ExcessHet=0.0000;FS=7.278;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=1.56;SOR=1.714	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,111,1665	20	0	1	0
chr3	196661697	196661697	G	A	exonic	NRROS	.	nonsynonymous SNV	NRROS:NM_198565:exon3:c.G2054A:p.R685H,	.	.	.	.	.	.	.	.	.	.	.	2207482	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.959	D	0.000	D	1.000	D	2.075	M	0.75	T	-0.518	T	0.302	T	0.846	4.002	20.5	5.66	2.831	4.805	20.122	0.271	0.0158104583267	7.7e-05	0.000399361	0.0001	0.0003	0.0004	0	0	7.913e-05	0	6.777e-05	0.0001811	28	154602	rs140011218	0.0001	0.0001	0.0001	0.0001	0.0016	0.0001	0.0001	0.0013	0.0012	5.993e-05	0.0016	0	2.533e-05	0	0	0.0001	0.0002	3.486e-05	0.0004	0.0004	0.0003	0.0005	0.0030	0.0003	0.0003	0.0023	0.0021	0.0002	0	0.0030	0	0	0	0	5.882e-05	0.0005	0.0002	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.959	0.70163	D	0.000006	0.62929	D	0.061993	0.99898	0.45816	D	.	.	.	0.75	0.50192	T	-2.1	0.47852	N	0.484	0.51851	-0.5185	0.67970	T	0.302	0.67288	T	10	0.07957786	0.12817	T	0.01581	0.36746	T	0.271	0.58633	.	.	0.608796909167	0.60565	0.34433850601847915	0.34347	1.30130239228	0.83020	0.343048930168	0.16894	T	0.167085	0.51357	T	-0.10278	0.35965	T	0.0442085	0.73203	D	0.0734686255455017	0.09130	T	0.865313	0.56401	D	0.23873466	0.46754	0.15032052	0.35457	0.23873466	0.46754	0.15032052	0.35456	-5.268	0.39625	T	.	.	0.113	0.22245	B	.	.	5.119734	0.85627	28.7	0.99950587712921812	0.99944	0.85688	0.44848	D	AEFDGBHCI	0.739819	0.68425	D	0.773829300032457	0.84445	8.289929	0.765546607943791	0.87312	9.179408	0.999999999999804	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.67347	0.61138	0	0.699875	0.68795	0	.	.	5.66	5.66	0.87293	5.431000	0.66245	9.932000	0.82588	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:1.0:0.0	20.122	0.97967	509	0.75304	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	905.98	39	chr3	196661697	.	G	A	905.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.269;DP=764;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=0.846;SOR=0.828	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr3	196707772	196707772	C	G	exonic	CEP19	.	nonsynonymous SNV	CEP19:NM_001379468:exon2:c.G166C:p.E56Q	Morbid obesity and spermatogenic failure, Autosomal recessive	.	435	1086	1	0	0	1	0.000460193	.	.	763792	not_provided|CEP19-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.14	T	0.003	B	0.007	B	0.000	N	1.000	D	1.995	M	.	.	-0.648	T	0.213	T	0.084	1.904	12.33	4.67	1.423	3.102	11.712	0.046	.	8.3e-05	0.00259585	0.0021	0.0001	0	0.0043	0	5.994e-05	0	0.0128	0.0018111	280	154602	rs139813132	0.0008	0.0008	0.0005	0.0012	0.0110	0.0008	0.0008	0.0105	0.0102	2.987e-05	8.944e-05	0	0.0044	0	0.0005	3.147e-05	0.0011	0.0110	0.0005	0.0005	0.0003	0.0006	0.0101	0.0004	0.0003	0.0079	0.0071	4.813e-05	0	0	0	0.0035	0	0	1.47e-05	0.0005	0.0101	0.162	0.23541	T	0.401	0.17217	T	.	.	.	.	.	.	0.000254	0.46924	N	0.247626	0.775292	0.34200	D	.	.	.	.	.	.	-1.03	0.28290	N	0.085	0.06190	-0.6481	0.62797	T	0.213	0.57347	T	9	0.0044844747	0.00092	T	.	.	.	0.046	0.12618	.	.	0.544260415555	0.54080	0.2359136708171371	0.23506	0.0722551291623	0.08109	0.38592222333	0.23093	T	.	.	.	-0.524764	0.00412	T	-0.517169	0.20581	T	0.0210804538782471	0.00810	T	0.722228	0.33571	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.10979	B	.;.	.;.	2.038422	0.25908	16.93	0.98276774102695175	0.39814	0.97882	0.77839	D	AEFDGBIJ	0.626242	0.60914	D	-0.0283542450733666	0.40574	2.41189	0.111324431330111	0.45126	2.781436	0.999999988186644	0.74766	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.649648	0.60094	0	.	.	5.56	4.67	0.58089	3.147000	0.50335	1.420000	0.26356	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.8069:0.1245:0.0686	11.712	0.50893	867	0.32089	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	2198.98	42	chr3	196707772	.	C	G	2198.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.82;DP=913;ExcessHet=0.0000;FS=1.128;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=-1.132e+00;SOR=0.791	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1218	20	0	1	0
chr3	196728103	196728103	A	G	exonic	PIGX	.	nonsynonymous SNV	PIGX:NM_001166304:exon4:c.A499G:p.N167D	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.622	P	0.217	B	0.061	N	0.968	N	1.5	L	1.56	T	-1.061	T	0.053	T	0.065	0.517	6.804	2.91	0.322	0.954	6.209	0.028	0.00864220318613	.	.	0.0002	0	0	0	0	6.024e-05	0.0011	0.0012	0.0001552	24	154602	rs771213420	9.577e-05	9.577e-05	5.581e-05	0.0001	0.0010	8.242e-05	7.783e-05	0.0008	0.0007	2.987e-05	0	0	0	0	0	4.766e-05	6.623e-05	0.0010	2.628e-05	2.627e-05	1.285e-05	4.035e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.271	0.22224	T	0.123	0.35582	T	0.229	0.39964	B	0.091	0.37636	B	0.060726	0.22226	N	0.504996	0.967769	0.25833	N	1.79	0.46772	L	1.56	0.29602	T	-1.35	0.34198	N	0.086	0.06322	-1.0606	0.11607	T	0.053	0.22423	T	10	0.034826428	0.01705	T	0.008642	0.22829	T	0.028	0.06331	0.4	0.42917	0.235038932564	0.23097	0.20817024182459817	0.20733	.	.	0.331576287746	0.15173	T	0.016673	0.13737	T	-0.580207	0.00192	T	-0.656645	0.08494	T	0.0391866675829578	0.03543	T	0.581942	0.21082	T	0.0909612	0.21301	0.13840911	0.33055	0.0909612	0.21301	0.13840911	0.33055	-2.731	0.12082	T	.	.	0.089	0.18206	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.432348	0.18510	13.77	0.90265720656328841	0.19535	0.62042	0.31662	D	AEFGBI	0.223851	0.34815	N	-0.402431215629411	0.25384	1.377534	-0.387078035584405	0.25381	1.395464	0.974360197253637	0.29536	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.36	2.91	0.32903	0.839000	0.27239	2.868000	0.35247	0.756000	0.94297	0.860000	0.30612	0.851000	0.27392	0.281000	0.24041	0.7538:0.1618:0.0845:0.0	6.209	0.19833	840	0.37365	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1080.98	33	chr3	196728103	.	A	G	1080.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.836;DP=772;ExcessHet=0.0000;FS=1.976;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=0.306;SOR=0.982	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1381	20	0	1	0
chr3	196886088	196886088	C	T	exonic	SENP5	.	nonsynonymous SNV	SENP5:NM_001308045:exon2:c.C907T:p.H303Y	.	.	430	1072	20	0	0	20	0.00924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99	T	0.894	P	0.276	B	0.069	N	1.000	D	0.345	N	1.37	T	-1.071	T	0.029	T	0.262	2.086	12.93	4.49	1.381	2.003	11.261	0.055	.	0.0055	0.00239617	0.0057	0.0011	0.0029	0	0.0014	0.0086	0.0055	0.0036	0.005595	865	154602	rs151102982	0.0057	0.0057	0.0057	0.0058	0.0144	0.0056	0.0056	0.0119	0.0110	0.0010	0.0046	0.0344	2.519e-05	0.0021	0.0144	0.0057	0.0063	0.0035	0.0053	0.0053	0.0055	0.0050	0.0062	0.0050	0.0048	0.0058	0.0056	0.0011	0.0713	0.0053	0.0360	0	0.0018	0.0136	0.0062	0.0085	0.0041	0.042	0.44358	D	0.398	0.15746	T	0.167	0.28604	B	0.04	0.23831	B	0.068702	0.21654	N	0.432451	1	0.81001	D	1.61	0.41143	L	1.37	0.34253	T	-0.92	0.25551	N	0.309	0.34874	-1.0706	0.09282	T	0.029	0.12673	T	10	0.0035499334	0.00064	T	.	.	.	0.055	0.15663	.	.	0.147330786459	0.14319	0.07654943486015639	0.07590	0.21552537	0.24085	0.307926267385	0.11594	T	0.008107	0.07462	T	-0.476606	0.00775	T	-0.453663	0.27293	T	0.0100612664167618	0.00135	T	0.716128	0.32863	T	0.07624217	0.17231	0.07669731	0.17011	0.07624217	0.17231	0.07669731	0.17011	-4.136	0.25819	T	.	.	0.09	0.12607	B	.;.	.;.	2.062754	0.26225	17.04	0.99077901006632374	0.51882	0.51476	0.28904	D	AEFBCI	0.103206	0.20683	N	-0.368203577258762	0.26609	1.453498	-0.238555164470753	0.30168	1.696263	0.999997713252263	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.37	4.49	0.54177	2.051000	0.40932	3.367000	0.37903	0.599000	0.40250	0.505000	0.26994	0.263000	0.23997	0.910000	0.44547	0.0:0.9096:0.0:0.0904	11.261	0.48315	600	0.68026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2048.98	33	chr3	196886088	.	C	T	2048.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.415e+00;DP=834;ExcessHet=0.0000;FS=2.211;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.18;ReadPosRankSum=0.479;SOR=0.505	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1249	20	0	1	0
chr3	196886230	196886230	G	A	exonic	SENP5	.	nonsynonymous SNV	SENP5:NM_001308045:exon2:c.G1049A:p.G350D	.	.	429	1046	46	1	0	48	0.0224299	.	.	698002	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.994	D	0.852	P	0.041	N	1.000	D	0.975	L	1.33	T	-0.958	T	0.135	T	0.885	3.577	18.23	5.4	2.691	4.337	15.055	0.176	.	0.0032	0.00339457	0.0053	0.0009	0.0016	0	0.0021	0.0048	0.0088	0.0165	0.0049999	773	154602	rs34326043	0.0052	0.0052	0.0049	0.0056	0.0177	0.0051	0.0051	0.0169	0.0166	0.0008	0.0017	0.0050	0	0.0032	0.0083	0.0048	0.0051	0.0177	0.0032	0.0032	0.0032	0.0032	0.0135	0.0029	0.0028	0.0108	0.0099	0.0008	0	0.0027	0.0063	0.0002	0.0013	0.0034	0.0043	0.0052	0.0135	0.001	0.78490	D	0.006	0.70582	D	0.986	0.61523	D	0.674	0.53247	P	0.041470	0.23946	N	0.433434	0.999835	0.81001	D	2.215	0.62545	M	1.33	0.35031	T	-0.81	0.25551	N	0.795	0.79118	-0.9580	0.39552	T	0.135	0.44914	T	10	0.005043119	0.00109	T	.	.	.	0.176	0.44373	.	.	0.525266285433	0.52174	0.28638960740791314	0.28551	0.641594467787	0.57746	0.427772462368	0.28904	T	0.009012	0.08229	T	-0.104752	0.35636	T	0.0897279	0.76226	D	0.0123640726748312	0.00202	T	0.868713	0.57175	D	0.35352296	0.57340	0.3804287	0.63075	0.35352296	0.57340	0.3804287	0.63075	-3.584	0.18641	T	.	.	0.223	0.45446	B	.;.	.;.	3.994106	0.58801	24.0	0.99785734057949749	0.87219	0.95368	0.64448	D	AEFDBCI	0.539764	0.55661	D	0.558107321876487	0.70576	5.522001	0.599793899831518	0.74926	6.220836	0.999999997546957	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	4.489000	0.60035	9.937000	0.82626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	15.055	0.71577	600	0.68026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1520.98	39	chr3	196886230	.	G	A	1520.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.120e-01;DP=882;ExcessHet=0.0000;FS=3.749;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.45;ReadPosRankSum=1.61;SOR=0.764	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr3	196886331	196886333	ACC	-	exonic	SENP5	.	nonframeshift deletion	SENP5:NM_001308045:exon2:c.1150_1152del:p.T384del	.	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00339457	0.0011	0	0	0.0146	0	0	0	0.0002	0.0009508	147	154602	rs144853607	0.0011	0.0011	0.0011	0.0010	0.0369	0.0010	0.0010	0.0354	0.0347	0	6.716e-05	0	0.0369	0	0.0005	1.619e-05	0.0007	9.283e-05	0.0006	0.0006	0.0005	0.0008	0.0185	0.0005	0.0005	0.0155	0.0144	0	0	0	0	0.0185	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3145.94	39	chr3	196886330	.	TACC	T	3145.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.839e+00;DP=897;ExcessHet=0.0000;FS=9.124;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.84;ReadPosRankSum=0.187;SOR=0.604	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr3	196948448	196948448	G	A	exonic	PIGZ	.	nonsynonymous SNV	PIGZ:NM_025163:exon3:c.C449T:p.P150L,	.	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.0	B	0.001	B	0.264	N	1.000	N	-1.78	N	0.18	T	-1.001	T	0.013	T	0.066	-0.906	0.426	-4.74	-1.455	-0.545	5.876	0.061	.	0.0002	0.00798722	0.0027	0.0001	0.0002	0.0220	0	4.624e-05	0	0.0075	0.0025161	389	154602	rs75314175	0.0013	0.0013	0.0012	0.0015	0.0278	0.0013	0.0013	0.0264	0.0259	8.961e-05	0.0002	0	0.0278	0	0.0005	7.914e-05	0.0016	0.0075	0.0012	0.0013	0.0011	0.0014	0.0247	0.0011	0.0010	0.0212	0.0199	0.0002	0	0.0007	0	0.0247	0	0	0.0001	0.0009	0.0072	0.966	0.02070	T	0.769	0.04492	T	0.0	0.02946	B	0.001	0.04355	B	0.263799	0.15262	N	0.534734	1	0.18612	N	-2.075	0.00166	N	0.18	0.60361	T	2.04	0.00388	N	0.044	0.01658	-1.0008	0.29688	T	0.013	0.05129	T	10	0.002756685	0.00043	T	.	.	.	0.061	0.17616	.	.	0.362361684037	0.35846	0.11748832415957511	0.11676	0.127361370349	0.14354	0.301235377789	0.10584	T	0.001209	0.00701	T	-0.643389	0.00079	T	-0.682024	0.06860	T	0.00767491012867851	0.00089	T	0.121488	0.00940	T	0.026495904	0.01714	0.03658137	0.03134	0.026495904	0.01713	0.03658137	0.03134	-1.702	0.02234	T	.	.	0.057	0.00563	B	.	.	-0.406378	0.02190	0.216	0.81154015780439503	0.13545	0.03598	0.08824	N	AEFDGBHCI	.	.	.	-1.70104703746559	0.00838	0.03624282	-1.65807512292433	0.01334	0.06023607	0.999999999982899	0.74766	0.533608	0.22052	0	0.61073	0.52368	0	0.505578	0.09266	0	0.638833	0.57524	0	.	.	5.25	-4.74	0.03013	-0.343000	0.07838	0.747000	0.21206	-0.051000	0.17024	0.000000	0.06391	0.001000	0.17328	0.274000	0.23868	0.2346:0.541:0.1245:0.0999	5.876	0.18076	650	0.62973	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2354.98	34	chr3	196948448	.	G	A	2354.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.61;DP=1174;ExcessHet=0.0000;FS=5.834;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.19;ReadPosRankSum=-9.580e-01;SOR=0.802	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,102,1530	20	0	1	0
chr3	197003946	197003946	C	G	exonic	MELTF	.	nonsynonymous SNV	MELTF:NM_005929:exon15:c.G2092C:p.V698L,	.	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	0.007	B	0.019	B	0.001	N	1.000	D	0.11	N	2.63	T	-1.007	T	0.010	T	0.111	2.120	13.04	3.83	0.727	0.554	5.175	0.045	0.00538293912762	0.0010	0.00179712	0.0004	0.0040	0.0005	0	0	0	0	0	0.0003687	57	154602	rs148977686	0.0001	0.0001	0.0001	0.0001	0.0032	0.0001	9.701e-05	0.0027	0.0025	0.0032	0.0006	0	0	0	0.0002	1.799e-06	0.0004	9.275e-05	0.0012	0.0012	0.0013	0.0012	0.0040	0.0011	0.0010	0.0035	0.0033	0.0040	0	0.0012	0	0	0	0	1.47e-05	0.0014	0	0.328	0.13219	T	0.38	0.15988	T	0.007	0.14184	B	0.019	0.18783	B	0.001340	0.39379	N	0.269079	0.590611	0.31023	N	0.46	0.12951	N	2.63	0.12884	T	-1.03	0.27052	N	0.183	0.19861	-1.0067	0.27943	T	0.010	0.03673	T	10	0.0050616562	0.00109	T	0.005383	0.13801	T	0.045	0.12272	0.563	0.68364	0.134241683229	0.13084	0.5015848808143132	0.50080	0.205735905422	0.22999	0.563387155533	0.47745	T	0.038661	0.24916	T	-0.624871	0.00103	T	-0.670505	0.07577	T	0.00929418853884423	0.00118	T	0.779322	0.41328	T	0.15397328	0.34874	0.084794596	0.19532	0.15397328	0.34874	0.084794596	0.19532	-3.723	0.19658	T	.	.	0.109	0.20702	B	.	.	1.497174	0.19252	14.17	0.9559062949913022	0.27312	0.74845	0.36624	D	ALL	0.352440	0.44520	N	-0.584033332860683	0.19429	1.016811	-0.366542966408597	0.26001	1.433479	0.999999999917502	0.74766	0.685219	0.55550	0	0.52208	0.09955	0	0.674405	0.61402	0	0.56751	0.32155	0	.	.	5.62	3.83	0.43287	0.283000	0.18605	0.427000	0.18283	0.599000	0.40250	0.994000	0.38300	0.005000	0.19230	0.910000	0.44547	0.1649:0.6635:0.0:0.1716	5.175	0.14456	678	0.60190	Transferrin-like domain|Transferrin-like domain|Transferrin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	937.98	82	chr3	197003946	.	C	G	937.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.230;DP=779;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=-1.591e+00;SOR=0.722	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1265	20	0	1	0
chr3	197017123	197017123	G	A	exonic	MELTF	.	nonsynonymous SNV	MELTF:NM_005929:exon7:c.C880T:p.R294W,	.	.	411	1087	24	0	0	24	0.010919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.809	P	0.018	N	1.000	D	2.43	M	2.47	T	-1.162	T	0.014	T	0.49	4.252	22.2	4.81	1.384	1.921	12.890	0.230	.	0.0018	0.0283546	0.0208	0.0013	0.0509	0.0581	0.0005	0.0024	0.0198	0.0754	0.0156854	2425	154602	rs2276790	0.0078	0.0079	0.0063	0.0093	0.0634	0.0077	0.0077	0.0620	0.0614	0.0010	0.0336	0.0112	0.0504	0.0003	0.0029	0.0014	0.0102	0.0634	0.0071	0.0071	0.0062	0.0080	0.0615	0.0067	0.0066	0.0558	0.0535	0.0014	0	0.0176	0.0133	0.0567	0.0003	0.0034	0.0013	0.0109	0.0615	0.006	0.61437	D	0.008	0.67890	D	0.998	0.73220	D	0.809	0.58564	P	0.017625	0.27675	N	0.419477	0.997883	0.22461	N	2.495	0.72670	M	2.47	0.14783	T	-3.89	0.72820	D	0.388	0.42931	-1.1619	0.00712	T	0.014	0.05369	T	10	0.0073421896	0.00167	T	.	.	.	0.230	0.53062	.	.	.	.	0.6055100167337348	0.60482	0.69199338216	0.60632	0.250929236412	0.03866	T	0.18354	0.53591	T	-0.473058	0.00814	T	-0.404397	0.32872	T	0.0268563781333905	0.01524	T	0.89971	0.64861	D	0.48027325	0.65917	0.4018112	0.64681	0.48027325	0.65918	0.4018112	0.64681	-8.093	0.61703	D	.	.	0.093	0.13830	B	.	.	4.998958	0.82931	27.9	0.99926407414701635	0.99103	0.89370	0.49794	D	AEFBCI	0.847238	0.76409	D	0.512766042721571	0.67842	5.13614	0.480715062957765	0.66714	4.988075	0.0814494892959752	0.15873	0.634777	0.41761	0	0.643519	0.57511	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	5.69	4.81	0.61401	1.325000	0.33330	7.498000	0.59452	0.676000	0.76740	0.906000	0.31575	1.000000	0.68203	0.943000	0.48514	0.0:0.0:0.704:0.296	12.890	0.57461	677	0.60274	Transferrin-like domain|Transferrin-like domain|Transferrin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1299.98	33	chr3	197017123	.	G	A	1299.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=792;ExcessHet=0.0000;FS=1.640;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=-3.180e-01;SOR=0.908	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1293	20	0	1	0
chr3	197019703	197019703	C	T	exonic	MELTF	.	nonsynonymous SNV	MELTF:NM_033316:exon7:c.G811A:p.G271R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.006	B	0.004	B	.	.	1.000	N	0	N	3.79	T	-0.900	T	0.006	T	0.064	1.482	10.90	1.05	0.265	-0.552	3.331	0.034	0.00203860225708	.	.	.	.	.	.	.	.	.	.	.	.	.	rs907877398	1.026e-05	1.026e-05	8.168e-06	1.238e-05	4.472e-05	6.16e-06	4.89e-06	7.41e-06	4.55e-06	0	4.472e-05	0	0	0	0	1.079e-05	1.656e-05	0	1.314e-05	1.313e-05	1.284e-05	1.344e-05	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.02	0.58613	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.79	0.03809	T	0.39	0.03521	N	0.132	0.12770	-0.8999	0.48003	T	0.006	0.02168	T	9	0.07609102	0.11842	T	0.002039	0.03721	T	0.034	0.08419	0.498	0.58835	0.0297737177859	0.01360	.	.	.	.	.	.	.	.	.	.	-0.476048	0.00780	T	-0.745739	0.03655	T	0.0274792284956587	0.01613	T	0.417158	0.10968	T	.	.	.	.	.	.	.	.	-3.568	0.17395	T	.	.	0.125	0.26388	B	.	.	0.070618	0.04792	1.403	0.91123755297199227	0.20377	0.02348	0.06703	N	AEFBI	0.054567	0.09932	N	-1.22301137903879	0.04668	0.2111566	-1.23989912769164	0.05283	0.2513143	0.110330126263892	0.16630	0.634777	0.41761	0	0.643519	0.57511	0	0.658983	0.55881	0	0.620976	0.48614	0	.	.	2.96	1.05	0.19280	-0.528000	0.06280	0.279000	0.16745	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2554:0.6024:0.0:0.1421	3.331	0.06669	677	0.60274	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	878.98	34	chr3	197019703	.	C	T	878.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.260e-01;DP=824;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.25;ReadPosRankSum=-1.210e-01;SOR=0.763	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1308	20	0	1	0
chr3	197130607	197130607	G	C	exonic	DLG1	.	nonsynonymous SNV	DLG1:NM_001204387:exon7:c.C836G:p.S279C	.	.	10	1511	1	0	0	1	0.000330797	.	.	3207074	DLG1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.08	T	0.996	D	0.926	D	0.000	D	1.000	D	1.815	L	2.19	T	-1.060	T	0.124	T	0.49	4.125	21.3	5.65	2.667	9.420	18.704	0.269	.	.	0.00259585	0.0008	0	0	0	0	0	0	0.0058	0.0007115	110	154602	rs571186311	0.0003	0.0003	0.0002	0.0004	0.0049	0.0003	0.0003	0.0045	0.0044	0	0	0	2.53e-05	1.9e-05	0	2.7e-06	0.0006	0.0049	0.0003	0.0003	0.0001	0.0004	0.0079	0.0002	0.0002	0.0059	0.0052	0	0	0	0	0	0	0	1.471e-05	0	0.0079	0.084	0.65419	T	0.096	0.69154	T	0.99	0.63424	D	0.831	0.59664	P	0.000003	0.62929	D	0.061993	0.999993	0.58761	D	1.65	0.42232	L	2.19	0.18724	T	-3.04	0.68298	D	0.514	0.54584	-1.0599	0.11781	T	0.124	0.42757	T	10	0.011205822	0.00246	T	.	.	.	0.269	0.58381	0.686	0.82367	0.406955170226	0.40314	0.49549592152912025	0.49470	0.771509722046	0.64789	0.749972820282	0.74442	T	0.363751	0.72945	T	-0.379006	0.03160	T	-0.316102	0.43000	T	0.172093573885788	0.18721	T	0.933007	0.74900	D	0.5979317	0.72580	0.33805218	0.59588	0.5979317	0.72581	0.33805218	0.59587	-9.199	0.69833	D	.	.	0.125	0.27762	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.823076	0.78580	26.9	0.9876398297851281	0.45862	0.99339	0.94716	D	AEFGBI	0.902620	0.85073	D	0.703083808345824	0.79833	7.162342	0.745578975528683	0.85825	8.698109	0.999999999941709	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	7.736000	0.83883	11.757000	0.95541	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.704	0.91594	933	0.16026	.;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;.;.;PDZ domain|PDZ domain|PDZ domain;.;.;.;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	886.98	35	chr3	197130607	.	G	C	886.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.820e-01;DP=770;ExcessHet=0.0000;FS=1.661;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.24;ReadPosRankSum=-1.698e+00;SOR=0.822	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1207	20	0	1	0
chr3	197681306	197681306	G	C	exonic	RUBCN	.	nonsynonymous SNV	RUBCN:NM_014687:exon16:c.C2253G:p.H751Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.735	H	.	.	0.337	D	0.531	D	0.771	3.637	18.50	-8.09	-1.223	-1.625	15.588	0.446	0.129816234728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.000000	0.999223	0.46379	D	3.56	0.93364	H	.	.	.	-7.67	0.95542	D	0.702	0.70615	0.337	0.88140	D	0.531	0.82607	D	9	0.9448689	0.93811	D	0.129816	0.81191	D	0.607	0.84559	0.84	0.94602	0.215109475489	0.21095	0.9220348752549467	0.92180	1.12822586205	0.78511	0.708673357964	0.68401	T	0.43157	0.77964	T	0.183789	0.72391	D	0.0262231	0.72032	D	0.997006595134735	0.90554	D	0.950305	0.81406	D	0.92434514	0.93673	0.85907114	0.92116	0.92434514	0.93674	0.85907114	0.92116	-15.299	0.96515	D	.	.	0.993	0.95832	P	.;.	.;.	0.077222	0.04842	1.439	0.9905971034995763	0.51459	0.20519	0.21071	N	AEFDBHCI	0.139095	0.26059	N	-0.594740207269827	0.19104	0.9972066	-0.811127481019648	0.14226	0.7422378	0.999835742168422	0.43792	0.67177	0.52595	0	0.702456	0.74545	0	0.779548	0.98927	0	0.635551	0.53088	0	.	.	4.95	-8.09	0.00961	-1.600000	0.02186	-4.642000	0.02055	-1.539000	0.00983	0.000000	0.06391	0.000000	0.08366	0.954000	0.50415	0.4367:0.0:0.5633:0.0	15.588	0.76243	764	0.49969	.;Putative zinc-RING and/or ribbon|Putative zinc-RING and/or ribbon	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1617.98	35	chr3	197681306	.	G	C	1617.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.819e+00;DP=808;ExcessHet=0.0000;FS=6.019;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.07;ReadPosRankSum=0.111;SOR=0.335	GT:AD:DP:GQ:PL	0/1:47,68:115:99:1632,0,1214	20	0	1	0
chr3	197839362	197839362	A	C	exonic	LRCH3	.	nonsynonymous SNV	LRCH3:NM_001363887:exon10:c.A1293C:p.K431N	.	.	434	1076	11	1	0	13	0.00600462	.	.	3190643	LRCH3-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.26	T	0.921	P	0.675	P	0.000	D	0.950	N	0.895	L	2.31	T	-0.967	T	0.132	T	0.261	3.431	17.60	5.74	2.323	3.668	10.523	0.059	0.0153412023487	0.0020	0.000798722	0.0015	0.0005	0.0013	0	0.0006	0.0023	0.0044	0.0001	0.0015071	233	154602	rs148665137	0.0015	0.0015	0.0014	0.0015	0.0119	0.0014	0.0014	0.0096	0.0088	0.0005	0.0018	0.0003	0	0.0004	0.0119	0.0016	0.0018	0.0002	0.0016	0.0016	0.0015	0.0016	0.0029	0.0014	0.0013	0.0023	0.0020	0.0005	0	0.0029	0	0	0.0003	0.0204	0.0023	0.0043	0.0004	0.018	0.52492	D	0.118	0.47581	T	0.835	0.49920	P	0.466	0.53279	P	0.000015	0.62929	D	0.138084	0.965625	0.26534	N	1.15	0.29295	L	2.06	0.31987	T	-1.72	0.41428	N	0.241	0.31478	-0.9672	0.37774	T	0.132	0.44307	T	10	0.0074974895	0.00170	T	0.015341	0.36015	T	0.059	0.16972	0.324	0.30549	0.381409048467	0.37754	0.2559485291612534	0.25508	0.291397255534	0.31546	0.526741325855	0.42575	T	0.026482	0.19590	T	-0.458273	0.01008	T	-0.436602	0.29188	T	0.0257361292577392	0.01370	T	0.957604	0.84033	D	0.21015398	0.43303	0.19592808	0.43296	0.21015398	0.43303	0.19592808	0.43295	-3.433	0.16445	T	.	.	0.395	0.63267	A	.;.;.;.;.;.	.;.;.;.;.;.	3.406218	0.47225	22.4	0.99806354933162489	0.89085	0.95075	0.63346	D	AEFBI	0.339824	0.43684	N	0.237764321041102	0.53037	3.474513	0.358728232761598	0.59036	4.078101	0.994467855849204	0.33649	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	3.654000	0.54193	7.872000	0.72015	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8866:0.0:0.1134:0.0	10.523	0.44117	856	0.34373	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1389.98	34	chr3	197839362	.	A	C	1389.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.460e-01;DP=789;ExcessHet=0.0000;FS=2.580;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.49;ReadPosRankSum=0.200;SOR=0.472	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1030	20	0	1	0
chr3	197889703	197889703	C	T	exonic	IQCG	.	stopgain	IQCG:NM_001134435:exon11:c.G1209A:p.W403X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	6.447	37	5.21	2.881	5.061	18.967	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	7.525e-06	7.524e-06	1.089e-05	4.125e-06	9.892e-06	4.04e-06	2.95e-06	5.31e-06	3.88e-06	0	0	0	0	0	0	9.892e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.254	0.28849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607496	0.97860	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	10.313150	0.99690	46	0.99677000735091126	0.78977	0.95587	0.65318	D	AEFDBI	0.063357	0.12237	N	0.905321614779977	0.92018	11.18859	0.784242223949771	0.88676	9.672697	0.99999999997174	0.74766	0.566229	0.32551	0	0.633656	0.55848	0	0.338622	0.05889	2	0.674467	0.66132	0	.	.	5.21	5.21	0.72005	5.043000	0.64012	7.581000	0.60964	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	18.967	0.92676	895	0.25842	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site;IQ motif, EF-hand binding site|IQ motif, EF-hand binding site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2287.98	33	chr3	197889703	.	C	T	2287.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.410e-01;DP=863;ExcessHet=0.0000;FS=0.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.54;ReadPosRankSum=-2.251e+00;SOR=0.763	GT:AD:DP:GQ:PL	0/1:78,91:169:99:2302,0,1914	20	0	1	0
chr3	197938619	197938619	A	T	exonic	IQCG	.	nonsynonymous SNV	IQCG:NM_001134435:exon4:c.T444A:p.D148E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	1.0	D	0.999	D	0.023	N	0.999	N	2.32	M	1.08	T	-0.880	T	0.194	T	0.214	3.254	16.92	0.539	0.142	-0.102	3.665	0.096	0.00687161201847	.	.	1.647e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs771570790	6.156e-06	6.156e-06	0	1.238e-05	0.0001	2.9e-06	2.1e-06	5.395e-05	4.042e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.54683	T	0.101	0.41913	T	0.984	0.90584	D	0.53	0.92359	P	0.022535	0.26616	N	0.410753	0.999945	0.21827	N	.	.	.	0.85	0.47815	T	-1.56	0.45042	N	0.196	0.21839	-0.8804	0.49730	T	0.194	0.54768	T	10	0.11957675	0.22631	T	0.006872	0.18177	T	0.096	0.27654	0.429	0.47680	0.581280949539	0.57799	0.08692749299722241	0.08626	0.245701231888	0.27094	0.411923706532	0.26723	T	0.015613	0.13063	T	-0.361559	0.04042	T	-0.520462	0.20248	T	0.153271421790123	0.17362	T	0.689731	0.29897	T	0.06851242	0.14931	0.051122412	0.08164	0.06851242	0.14931	0.051122412	0.08164	-3.349	0.14378	T	.	.	0.198	0.43748	B	.;.;.;.	.;.;.;.	0.934623	0.13100	9.603	0.98381276348200242	0.40853	0.03523	0.08707	N	AEFBI	0.055201	0.10103	N	-0.552725000507971	0.20398	1.075014	-0.739090145589927	0.15990	0.8437716	0.00182215591040596	0.08920	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.5	0.539	0.16348	0.050000	0.14004	-1.270000	0.05855	-0.091000	0.16156	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	0.5841:0.0:0.2603:0.1556	3.665	0.07788	917	0.20147	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2166.98	34	chr3	197938619	.	A	T	2166.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.867;DP=900;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.35;ReadPosRankSum=-1.441e+00;SOR=0.717	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1260	20	0	1	0
chr4	60102	60102	A	G	exonic	ZNF595	.	nonsynonymous SNV	ZNF595:NM_182524:exon3:c.A175G:p.I59V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.0	B	0.0	B	.	.	1.000	N	.	.	5.61	T	-0.926	T	0.003	T	0.035	0.590	7.184	0.681	0.549	0.232	.	0.039	0.00314259354943	.	.	0.0003	0.0031	0.0002	0	0	2.997e-05	0	0	.	.	.	rs1211858640	1.59e-05	3.98e-05	2.397e-05	8.63e-06	0.0005	6.61e-06	5.25e-06	0.0002	0.0001	0.0005	0	0	0	0	0	0	3.945e-05	0	0.0001	0.0004	0.0001	9.878e-05	0.0004	6.24e-05	5.064e-05	0.0002	0.0002	0.0004	0	0	0	0.0002	0	0	0	0	0	0.051	0.39334	T	0.198	0.46862	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.59	0.00834	T	0.27	0.04306	N	0.131	0.12627	-0.9262	0.44688	T	0.003	0.00929	T	7	0.010288149	0.00230	T	0.003143	0.06845	T	0.039	0.10176	.	.	0.0551355673512	0.04727	0.018109461160628844	0.01764	.	.	0.375459849834	0.21612	T	0.011459	0.10219	T	-0.386626	0.02828	T	-0.793138	0.02079	T	0.0108471274160358	0.00154	T	0.135686	0.01072	T	0.112428285	0.26562	0.17038237	0.39143	0.112428285	0.26561	0.17038237	0.39142	-3.444	0.15656	T	.	.	0.087	0.18663	B	.;.	.;.	0.456358	0.08259	5.005	0.80280555790844776	0.13129	0.01519	0.05013	N	AEFDBCI	0.032141	0.03572	N	-0.838718963461223	0.12329	0.6002975	-0.939436184053443	0.11169	0.5673672	0.999994706620072	0.74766	0.751926	0.98777	0	0.386843	0.06301	2	0.639134	0.45391	0	0.765956	0.99894	0	.	.	0.681	0.681	0.17152	-0.026000	0.12340	.	.	0.413000	0.20698	0.063000	0.21864	0.000000	0.08366	0.177000	0.21203	.	.	.	976	0.04745	Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1877.98	135	chr4	60102	.	A	G	1877.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.515;DP=2422;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.97;ReadPosRankSum=0.878;SOR=0.688	GT:AD:DP:GQ:PL	0/0:114,0:114:99:0,120,1800	20	0	1	0
chr4	271406	271406	A	C	exonic	ZNF732	.	stopgain	ZNF732:NM_001137608:exon4:c.T1451G:p.L484X,	.	.	404	1084	24	1	9	35	0.0118505	.	.	3226488	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.4	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	0.940	8.833	-0.708	-0.820	-3.671	1.39	.	.	.	0.00339457	0.0029	0.0001	0.0016	0	0.0002	0.0013	0.0016	0.0123	0.0018434	285	154602	rs201614981	0.0010	0.0012	0.0008	0.0013	0.0091	0.0010	0.0010	0.0081	0.0079	0.0001	0.0003	0.0033	0	5.673e-05	0.0091	0.0005	0.0015	0.0086	0.0006	0.0009	0.0005	0.0007	0.0057	0.0005	0.0005	0.0039	0.0033	0.0001	0	0.0003	0.0031	0	0	0.0092	0.0006	0.0011	0.0057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.012	0.00125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.04705	0.44894	T	0.164626	0.81088	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	4.302147	0.65697	24.9	0.91691167450629085	0.20983	0.00005	0.00104	N	AEFBCI	0.015142	0.00275	N	-0.564371121544503	0.20035	1.053224	-1.03427728681279	0.09038	0.4474421	0.00118406226132509	0.08314	0.660377	0.49826	0	0.573888	0.26702	0	0.696353	0.63694	0	0.567892	0.33627	0	.	.	0.354	-0.708	0.10675	-5.919000	0.00110	.	.	-1.776000	0.00658	0.000000	0.06391	.	.	0.000000	0.00833	0.3417:0.0:0.3148:0.3435	1.39	0.02113	958	0.09170	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	400.98	67	chr4	271406	.	A	C	400.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=842;ExcessHet=0.0000;FS=4.095;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.69;MQRankSum=-1.750e+00;QD=5.98;ReadPosRankSum=-1.115e+00;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485	20	0	1	0
chr4	271433	271433	C	T	exonic	ZNF732	.	nonsynonymous SNV	ZNF732:NM_001137608:exon4:c.G1424A:p.R475K,	.	.	405	1089	18	1	9	29	0.00909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-1.5	N	2.6	T	-0.980	T	0.006	T	0.221	-1.931	0.008	-1.95	-0.826	-1.600	0.084	0.060	0.000961781392394	.	.	0.0001	0	0	0	0	2.303e-05	0	0.0006	5.17e-05	8	154602	rs374403050	6.146e-05	0.0007	3.155e-05	9.178e-05	0.0009	5.075e-05	4.716e-05	0.0004	0.0004	3.012e-05	2.336e-05	0.0002	0	0	0.0009	2.171e-05	0.0001	0.0005	0.0001	0.0004	0.0001	0.0001	0.0011	8.317e-05	6.848e-05	0.0004	0.0003	2.461e-05	0	0.0001	0	0	0	0.0037	0.0001	0	0.0011	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.81	0.01558	N	2.6	0.13204	T	2.5	0.00234	N	0.03	0.00717	-0.9802	0.34955	T	0.006	0.02131	T	9	0.02215287	0.00546	T	9.62E-4	0.00980	T	0.060	0.17295	.	.	0.0138822411134	0.00435	0.012645996031793793	0.01223	0.00525268096969	0.00466	0.225211679935	0.01633	T	0.00146	0.00916	T	-0.581619	0.00188	T	-0.723801	0.04614	T	0.0225976975388551	0.00976	T	0.00909909	0.00045	T	0.02746189	0.01942	0.032192603	0.01918	0.02746189	0.01942	0.032192603	0.01918	-0.488	0.00576	T	.	.	0.074	0.05188	B	.;.	.;.	-1.694881	0.00197	0.003	0.44969411326617498	0.03496	0.00007	0.00120	N	AEFBCI	0.014611	0.00240	N	-1.91823074996728	0.00315	0.01352591	-1.90989752353302	0.00468	0.02072324	4.07066924592212E-4	0.06860	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	0.977	-1.95	0.07135	-2.981000	0.00727	.	.	-1.657000	0.00818	0.000000	0.06391	0.002000	0.18203	0.001000	0.02609	0.2404:0.2319:0.2403:0.2874	0.084	0.00031	958	0.09170	Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	159.98	61	chr4	271433	.	C	T	159.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.51;DP=835;ExcessHet=0.0000;FS=1.547;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.66;MQRankSum=-2.525e+00;QD=2.62;ReadPosRankSum=-3.272e+00;SOR=0.323	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485	20	0	1	0
chr4	271437	271437	A	G	exonic	ZNF732	.	nonsynonymous SNV	ZNF732:NM_001137608:exon4:c.T1420C:p.Y474H,	.	.	396	1100	14	1	11	27	0.00722022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.996	D	0.913	D	.	.	0.998	N	0.77	N	1.99	T	-1.065	T	0.061	T	0.141	2.103	12.99	0.977	0.338	2.026	5.732	0.079	0.00150168128592	.	.	8.666e-05	0	0	0	0	2.27e-05	0	0.0005	.	.	.	rs781922657	2.691e-05	0.0006	8.225e-06	4.584e-05	0.0004	2.015e-05	1.769e-05	0.0002	0.0002	0	2.326e-05	7.803e-05	0	0	0.0004	7.231e-06	3.34e-05	0.0003	7.929e-05	0.0003	9.042e-05	6.763e-05	0.0004	4.52e-05	3.53e-05	7.488e-05	3.35e-05	0	0	0.0001	0.0003	0	0	0	0.0001	0	0.0004	0.029	0.45756	D	0.058	0.46182	T	0.996	0.68779	D	0.913	0.64886	D	.	.	.	.	0.998474	0.22131	N	1.26	0.31868	L	1.99	0.21666	T	-4.34	0.76822	D	0.172	0.18376	-1.0648	0.10596	T	0.061	0.25528	T	9	0.09361702	0.16583	T	0.001502	0.02318	T	0.079	0.23065	.	.	0.0401082797425	0.02173	0.02592215460062857	0.02543	0.00655855936216	0.00574	0.309396147728	0.11816	T	0.05521	0.29943	T	-0.244394	0.14794	T	-0.588832	0.13767	T	0.251482155534244	0.22939	T	0.679032	0.28770	T	0.12090002	0.28441	0.10232704	0.24522	0.12090002	0.28441	0.10232704	0.24522	-6.625	0.51244	T	.	.	0.383	0.58843	A	.;.	.;.	1.776610	0.22588	15.68	0.99342460835587676	0.60251	0.00107	0.00683	N	AEFBCI	0.032061	0.03548	N	-0.38852001634399	0.25877	1.40801	-0.630956480852967	0.18699	1.000103	0.00111409298172605	0.08239	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	0.977	0.977	0.18853	2.065000	0.41068	.	.	0.384000	0.20435	0.004000	0.16614	0.003000	0.18671	0.005000	0.06747	1.0:0.0:0.0:0.0	5.732	0.17314	958	0.09170	Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	35.98	58	chr4	271437	.	A	G	35.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.116;DP=832;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.64;MQRankSum=-3.194e+00;QD=0.62;ReadPosRankSum=-2.744e+00;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485	20	0	1	0
chr4	272166	272166	T	C	exonic	ZNF732	.	nonsynonymous SNV	ZNF732:NM_001137608:exon4:c.A691G:p.I231V,	.	.	419	1096	5	2	0	9	0.00408905	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.016	B	0.015	B	.	.	1.000	N	-0.915	N	2.34	T	-0.981	T	0.013	T	0.06	-0.351	2.339	-0.308	0.339	-0.973	3.942	0.072	0.000764672128026	0.0015	0.000998403	0.0016	0.0002	0.0013	0	0	0.0021	0.0012	0.0023	0.0014489	224	154602	rs144919218	0.0020	0.0020	0.0020	0.0021	0.0024	0.0020	0.0020	0.0022	0.0022	0.0002	0.0012	0.0017	2.523e-05	0.0001	0.0024	0.0023	0.0022	0.0021	0.0013	0.0013	0.0015	0.0011	0.0023	0.0011	0.0011	0.0020	0.0019	0.0003	0	0.0007	0.0009	0	9.464e-05	0	0.0023	0.0014	0.0019	0.222	0.18823	T	0.123	0.35582	T	0.016	0.17332	B	0.015	0.17295	B	.	.	.	.	1	0.08975	N	-0.335	0.03518	N	2.34	0.16351	T	0.61	0.02480	N	0.051	0.02272	-0.9812	0.34724	T	0.013	0.05273	T	9	0.012317002	0.00265	T	7.65E-4	0.00549	T	0.072	0.21020	.	.	0.0138822411134	0.00435	0.00204553568814534	0.00189	0.018289461423	0.01786	0.287587076426	0.08571	T	0.001919	0.01337	T	-0.724101	0.00026	T	-0.819373	0.01465	T	0.00118991917286493	0.00012	T	0.131687	0.01039	T	0.024258869	0.01240	0.04367557	0.05487	0.024258869	0.01240	0.04367557	0.05487	-2.575	0.06315	T	.	.	0.076	0.05979	B	.;.	.;.	-0.468614	0.01970	0.171	0.76111669369923041	0.11337	0.00669	0.02886	N	AEFGBCI	0.032875	0.03794	N	-1.28412719342455	0.03866	0.1734751	-1.32394777230922	0.04123	0.1937903	0.00193757712823218	0.09019	0.460665	0.09802	0	0.573888	0.26702	0	0.575934	0.27490	0	0.613276	0.41899	0	.	.	0.946	-0.308	0.12139	-2.502000	0.01042	.	.	-0.581000	0.04707	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.2852:0.0:0.7148	3.942	0.08827	958	0.09170	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	952.98	43	chr4	272166	.	T	C	952.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.660e-01;DP=863;ExcessHet=0.0000;FS=2.916;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=-1.160e+00;SOR=0.602	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr4	295462	295462	G	A	exonic	ZNF732	.	nonsynonymous SNV	ZNF732:NM_001137608:exon3:c.C202T:p.H68Y,	.	.	480	1013	25	4	0	33	0.0160272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.867	P	0.337	B	.	.	1.000	N	1.23	L	3.41	T	-0.966	T	0.015	T	0.171	0.345	5.872	0.225	0.300	0.364	.	0.037	.	0.0015	0.00239617	0.0050	0.0007	0.0024	0.0002	0.0009	0.0031	0.0063	0.0196	0.0030983	479	154602	rs138314261	0.0027	0.0027	0.0023	0.0031	0.0147	0.0026	0.0026	0.0140	0.0137	0.0004	0.0021	0.0018	2.525e-05	0.0004	0.0109	0.0020	0.0032	0.0147	0.0019	0.0019	0.0018	0.0020	0.0137	0.0017	0.0016	0.0110	0.0101	0.0004	0	0.0020	0.0012	0.0002	0.0003	0.0068	0.0023	0.0024	0.0137	0.019	0.50132	D	0.259	0.23097	T	0.867	0.47667	P	0.337	0.42281	B	.	.	.	.	1	0.08975	N	1.595	0.40691	L	3.41	0.05574	T	-4.3	0.76496	D	0.283	0.32037	-0.9661	0.37994	T	0.015	0.05946	T	8	0.004892677	0.00104	T	.	.	.	0.037	0.09474	.	.	0.0297737177859	0.01360	0.008887082006758107	0.00851	0.00617594443748	0.00540	0.462571084499	0.33664	T	0.028374	0.20569	T	-0.583913	0.00182	T	-0.598554	0.12934	T	0.0382727865918116	0.03381	T	0.00488285	0.00016	T	0.18124768	0.39286	0.25665975	0.51369	0.18124768	0.39286	0.25665975	0.51368	-7.339	0.56473	T	.	.	0.083	0.11701	B	.;.	.;.	0.778245	0.11484	8.086	0.83627085447851301	0.14830	0.00662	0.02865	N	AEFBI	0.037922	0.05288	N	-0.641975677530967	0.17694	0.9126882	-0.849602537774039	0.13297	0.6890182	0.0801743627968419	0.15838	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	0.225	0.225	0.14598	0.919000	0.28312	.	.	0.373000	0.20310	0.005000	0.17040	0.000000	0.08366	0.031000	0.13245	.	.	.	958	0.09170	Krueppel-associated box;Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1084.98	37	chr4	295462	.	G	A	1084.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.240e-01;DP=812;ExcessHet=0.0000;FS=1.595;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.74;ReadPosRankSum=-8.100e-01;SOR=0.534	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1201	20	0	1	0
chr4	442975	442975	C	T	exonic	ZNF721	.	nonsynonymous SNV	ZNF721:NM_133474:exon3:c.G1492A:p.E498K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.902	P	0.254	B	.	.	1.000	D	1.145	L	1.86	T	-0.990	T	0.039	T	0.229	3.027	16.10	0.71	0.677	0.577	7.268	0.025	0.00194310787568	7.9e-05	.	2.485e-05	0	0	0	0	4.497e-05	0	0	1.94e-05	3	154602	rs199837561	3.353e-05	3.352e-05	3.54e-05	3.163e-05	4.317e-05	2.566e-05	2.312e-05	3.343e-05	2.956e-05	0	0	0	0	0	0	4.317e-05	1.656e-05	0	4.603e-05	4.598e-05	5.142e-05	4.039e-05	7.351e-05	2.111e-05	1.528e-05	2.847e-05	1.858e-05	2.416e-05	0	6.551e-05	0	0	0	0	7.351e-05	0	0	0.033	0.52492	D	0.019	0.67890	D	0.902	0.49745	P	0.226	0.38054	B	.	.	.	.	0.841829	0.81001	D	1.64	0.41913	L	1.86	0.24285	T	-3.31	0.65972	D	0.217	0.32812	-0.9897	0.32677	T	0.039	0.16849	T	9	0.099103004	0.17963	T	0.001943	0.03456	T	0.025	0.05312	.	.	0.0954503805726	0.09146	0.026854729054483804	0.02635	0.0956328157147	0.10801	0.331679582596	0.15189	T	0.071035	0.34108	T	-0.276592	0.11032	T	-0.527425	0.19545	T	0.698785006999969	0.40661	D	0.253675	0.05202	T	0.07479271	0.16809	0.09369634	0.22143	0.07479271	0.16809	0.09369634	0.22143	-8.04	0.61343	D	.	.	0.208	0.44319	B	.;.	.;.	1.440796	0.18602	13.83	0.99766270097812904	0.85500	0.00001	0.00044	N	AEFGBHCI	0.064894	0.12628	N	-0.706321666963897	0.15843	0.8020834	-0.904934590799817	0.11977	0.6134689	0.962363262649852	0.28618	0.732398	0.92422	0	0.743671	0.97443	0	0.643519	0.47002	0	0.592323	0.36904	0	.	.	0.71	0.71	0.17313	0.682000	0.25015	.	.	-0.663000	0.04345	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.0:0.9999:0.0:1.0E-4	7.268	0.25416	912	0.21483	Zinc finger C2H2-type;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2026.98	105	chr4	442975	.	C	T	2026.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.96;DP=959;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.95;MQRankSum=0.927;QD=11.99;ReadPosRankSum=-4.340e-01;SOR=0.726	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1315	20	0	1	0
chr4	443515	443515	C	T	exonic	ZNF721	.	nonsynonymous SNV	ZNF721:NM_133474:exon3:c.G952A:p.A318T,	.	.	.	.	.	.	.	.	.	.	.	2674956	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.998	D	0.901	P	.	.	1.000	N	-0.4	N	5.43	T	-0.867	T	0.003	T	0.024	-1.574	0.014	-1.5	-3.444	-1.637	2.817	0.055	0.000757735717285	.	.	1.657e-05	0	8.639e-05	0	0	1.5e-05	0	0	1.29e-05	2	154602	rs781880801	1.71e-05	1.779e-05	2.042e-05	1.375e-05	0.0005	1.174e-05	9.92e-06	0.0001	7.546e-05	2.988e-05	2.236e-05	0	0	0	0.0005	1.349e-05	4.968e-05	2.319e-05	2.06e-05	3.357e-05	1.342e-05	2.812e-05	6.805e-05	5.48e-06	2.52e-06	.	.	2.556e-05	0	6.805e-05	0	0	0	0	1.513e-05	0	0	0.03	0.45393	D	0.126	0.38450	T	0.998	0.73220	D	0.901	0.63994	P	.	.	.	.	1	0.08975	N	0.7	0.18542	N	5.43	0.00989	T	0.18	0.05035	N	0.038	0.10056	-0.8665	0.50790	T	0.003	0.01059	T	9	0.06101346	0.07585	T	7.58E-4	0.00549	T	0.055	0.15663	.	.	0.0297737177859	0.01360	0.003351787162162441	0.00313	0.0149161566634	0.01420	0.311741888523	0.12170	T	9.11E-4	0.00471	T	-0.469083	0.00861	T	-0.828716	0.01285	T	0.0508044813320901	0.05640	T	0.772623	0.40374	T	0.027471723	0.01945	0.046243798	0.06402	0.027471723	0.01945	0.046243798	0.06402	-6.42	0.49821	T	.	.	0.190	0.42273	B	.;.	.;.	0.567603	0.09362	6.142	0.3657403069978723	0.02360	0.00000	0.00017	N	AEFDGBHCI	0.012219	0.00128	N	-1.83914680447585	0.00456	0.01962858	-2.0238592508699	0.00273	0.01202801	0.999766247500046	0.42728	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	0.75	-1.5	0.08233	-3.522000	0.00494	.	.	-2.532000	0.00253	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2997:0.356:0.0:0.3443	2.817	0.05123	912	0.21483	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1419.98	105	chr4	443515	.	C	T	1419.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.805;DP=948;ExcessHet=0.0000;FS=2.106;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.82;MQRankSum=1.21;QD=9.86;ReadPosRankSum=-1.271e+00;SOR=0.791	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1315	20	0	1	0
chr4	443773	443773	G	A	exonic	ZNF721	.	nonsynonymous SNV	ZNF721:NM_133474:exon3:c.C694T:p.H232Y,	.	.	402	1118	2	0	0	2	0.000893655	.	.	2364021	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.6	T	0.076	B	0.031	B	.	.	1.000	N	0.4	N	3.29	T	-0.899	T	0.010	T	0.074	-1.313	0.035	0.349	-0.118	-6.419	5.573	0.005	0.000634465812214	0.0002	0.000399361	0.0007	0.0002	0.0012	0	0.0005	0.0010	0	0.0002	0.0006533	101	154602	rs200907568	0.0006	0.0006	0.0006	0.0007	0.0043	0.0006	0.0006	0.0030	0.0026	0.0003	0.0012	0.0039	0	0.0004	0.0043	0.0006	0.0011	0.0002	0.0006	0.0006	0.0007	0.0004	0.0012	0.0005	0.0004	0.0008	0.0007	7.232e-05	0	0.0012	0.0049	0	0.0004	0.0102	0.0006	0.0010	0	0.95	0.02146	T	0.553	0.09329	T	0.076	0.24253	B	0.031	0.21939	B	.	.	.	.	1	0.08975	N	0.45	0.12780	N	3.29	0.06445	T	-0.53	0.16598	N	0.157	0.29313	-0.8988	0.48115	T	0.010	0.03537	T	9	0.009424478	0.00213	T	6.34E-4	0.00319	T	0.005	0.00259	.	.	0.0401082797425	0.02173	0.0051104171182992176	0.00482	0.0152685826195	0.01452	0.33679831028	0.15957	T	3.74E-4	0.00113	T	-0.669392	0.00055	T	-0.805798	0.01762	T	0.0026587422027729	0.00028	T	0.0683932	0.00498	T	0.016760569	0.00220	0.026666738	0.00768	0.016760569	0.00220	0.026666738	0.00768	-5.609	0.42874	T	.	.	0.095	0.17317	B	.;.	.;.	-0.957051	0.00835	0.028	0.22323602717531357	0.00892	0.00000	0.00017	N	AEFDBHCI	0.023901	0.01398	N	-1.71615433637951	0.00786	0.03395638	-1.7829476745723	0.00815	0.03639876	0.0167396678200236	0.12866	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	1.29	0.349	0.15269	-2.952000	0.00742	.	.	-0.396000	0.05320	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2107:0.0:0.7893:0.0	5.573	0.16490	912	0.21483	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1697.98	105	chr4	443773	.	G	A	1697.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.365e+00;DP=999;ExcessHet=0.0000;FS=0.714;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.16;ReadPosRankSum=-5.470e-01;SOR=0.832	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1315	20	0	1	0
chr4	444400	444400	G	A	exonic	ZNF721	.	nonsynonymous SNV	ZNF721:NM_133474:exon3:c.C67T:p.P23S,	.	.	470	1043	8	1	0	10	0.00477099	.	.	2344554	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.983	D	0.718	P	.	.	1.000	N	2.07	M	6.13	T	-1.054	T	0.031	T	0.103	1.503	10.97	1.16	0.585	1.675	5.560	0.060	0.00326301347572	0.0009	0.000798722	0.0007	0.0001	8.703e-05	0	0	0.0011	0	0.0007	0.0006662	103	154602	rs147101943	0.0006	0.0006	0.0006	0.0006	0.0066	0.0006	0.0005	0.0049	0.0043	0.0002	0.0003	0.0016	2.536e-05	7.547e-05	0.0066	0.0006	0.0009	0.0007	0.0005	0.0005	0.0006	0.0005	0.0008	0.0004	0.0004	0.0007	0.0006	7.234e-05	0	0.0003	0.0014	0	0	0.0034	0.0008	0.0019	0.0006	0.061	0.91255	T	0.105	0.44905	T	0.983	0.60381	D	0.718	0.54779	P	.	.	.	.	1	0.08975	N	2.1	0.58353	M	5.43	0.06291	T	-6.36	0.91017	D	0.1	0.27316	-1.0535	0.13440	T	0.031	0.13418	T	9	0.02060613	0.00478	T	0.003263	0.07207	T	0.060	0.17295	.	.	0.101711395817	0.09552	0.07780660636734625	0.07716	0.01598515972	0.01529	0.382494032383	0.22611	T	0.004171	0.03581	T	-0.575627	0.00205	T	-0.66438	0.07973	T	0.0777166149479617	0.09692	T	0.139386	0.17685	T	0.061232716	0.12656	0.1436463	0.34131	0.061232716	0.12655	0.1436463	0.34130	-5.359	0.40523	T	.	.	0.233	0.46666	B	.;.;.;.	.;.;.;.	1.600118	0.20457	14.76	0.98539848925130369	0.42707	0.00000	0.00017	N	AEFBCI	0.019397	0.00670	N	-0.571103290643361	0.19827	1.040719	-0.706724771515294	0.16793	0.8900453	0.00296184709884871	0.09834	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	1.16	1.16	0.19936	-0.449000	0.06885	.	.	-0.469000	0.05095	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.0:1.0:0.0	5.560	0.16425	912	0.21483	Krueppel-associated box|Krueppel-associated box;.;.;Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1936.98	38	chr4	444400	.	G	A	1936.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.080e-01;DP=895;ExcessHet=0.0000;FS=1.948;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.74;ReadPosRankSum=2.04;SOR=0.753	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1315	20	0	1	0
chr4	516050	516050	C	G	exonic	PIGG	.	nonsynonymous SNV	PIGG:NM_001289052:exon4:c.C580G:p.P194A	Mental retardation, autosomal recessive 53, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	520207	Intellectual_disability,_autosomal_recessive_53	MONDO:MONDO:0014832,MedGen:C4310794,OMIM:616917,Orphanet:488635	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.997	D	0.972	D	0.000	D	0.999	D	2.095	M	1.03	T	-0.692	T	0.218	T	0.594	2.354	13.83	4.6	2.551	2.147	11.242	0.239	0.013545391243	.	.	8.237e-05	0	0	0.0012	0	0	0	0	6.47e-05	10	154602	rs773467896	2.052e-05	2.052e-05	1.906e-05	2.2e-05	0.0007	1.456e-05	1.264e-05	0.0005	0.0005	0	0	0	0.0007	0	0	0	1.656e-05	0	5.256e-05	5.91e-05	6.423e-05	4.035e-05	0.0015	2.557e-05	1.83e-05	0.0008	0.0006	0	0	0	0	0.0015	0	0	0	0	0	0.016	0.53900	D	0.025	0.66756	D	0.936	0.70673	P	0.846	0.72692	P	0.000003	0.62929	D	0.109676	0.999263	0.46490	D	3.415	0.91848	M	1.03	0.40469	T	-5.44	0.85765	D	0.456	0.50327	-0.6918	0.60824	T	0.218	0.58111	T	10	0.13165218	0.25056	T	0.013545	0.33021	T	0.239	0.54358	0.642	0.77903	0.594397571648	0.59118	0.6477673586437052	0.64711	0.441137883739	0.44109	0.426054120064	0.28669	T	0.327949	0.75862	T	-0.326056	0.06414	T	-0.244498	0.50358	T	0.432587260663728	0.30156	T	0.982002	0.93887	D	0.2646036	0.49527	0.15967026	0.37227	0.2646036	0.49527	0.15967026	0.37226	-10.816	0.79642	D	0.9282744627795948	0.97027	0.253	0.52144	B	.;.;.;.;.;.	.;.;.;.;.;.	3.432818	0.47720	22.5	0.99219856976840892	0.55870	0.82359	0.41598	D	AEFBCI	0.209409	0.33539	N	0.446876586132851	0.64025	4.648163	0.385953512534942	0.60697	4.260346	0.865312882196312	0.25307	0.719381	0.83141	0	0.697927	0.68747	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.45	4.6	0.56512	2.170000	0.42071	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.111000	0.18785	0.0:0.9118:0.0:0.0882	11.242	0.48203	769	0.49307	.;GPI ethanolamine phosphate transferase 2, N-terminal;GPI ethanolamine phosphate transferase 2, N-terminal;.;.;GPI ethanolamine phosphate transferase 2, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1663.98	34	chr4	516050	.	C	G	1663.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.76;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.51;ReadPosRankSum=0.481;SOR=0.705	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1204	20	0	1	0
chr4	539187	539187	G	A	exonic	PIGG	.	nonsynonymous SNV	PIGG:NM_001289052:exon11:c.G2371A:p.A791T	Mental retardation, autosomal recessive 53, Autosomal recessive	.	438	1081	3	0	0	3	0.00138568	.	.	1396550	Intellectual_disability,_autosomal_recessive_53	MONDO:MONDO:0014832,MedGen:C4310794,OMIM:616917,Orphanet:488635	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.45	T	1.0	D	0.939	D	0.000	D	1.000	D	2.535	M	1.89	T	-0.960	T	0.166	T	0.723	4.256	22.2	5.91	2.813	6.716	17.790	0.236	0.0128602314542	.	.	2.472e-05	0	8.643e-05	0	0	0	0.0011	6.062e-05	1.94e-05	3	154602	rs771098011	3.697e-05	4.036e-05	2.997e-05	4.403e-05	0.0001	2.896e-05	2.594e-05	5.853e-05	3.761e-05	0.0001	4.472e-05	0	0	0	0	3.78e-05	6.629e-05	1.16e-05	2.628e-05	2.627e-05	2.569e-05	2.69e-05	6.543e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.543e-05	0	0	0	0	4.409e-05	0	0	0.016	0.51853	D	0.263	0.22962	T	1.0	0.90584	D	0.921	0.67449	D	0.000000	0.84330	D	0.052785	1	0.81001	D	1.6	0.40776	L	1.89	0.23688	T	-2.33	0.51646	N	0.668	0.67650	-0.9596	0.39255	T	0.166	0.50469	T	10	0.7502786	0.75586	D	0.01286	0.31797	T	0.236	0.53931	0.513	0.61153	0.389904358541	0.38601	0.4975092880807593	0.49671	0.619018765651	0.56272	0.487798929214	0.37134	T	0.022471	0.24224	T	-0.0230395	0.48421	T	-0.174017	0.57075	T	0.83707070350647	0.49090	D	0.920308	0.71149	D	0.2546722	0.48497	0.2553335	0.51214	0.2546722	0.48497	0.2553335	0.51213	-5.669	0.43417	T	0.6552967462771384	0.72800	0.119	0.24901	B	.;.;.;.	.;.;.;.	4.740155	0.76438	26.5	0.99914214941967339	0.98309	0.97619	0.75946	D	AEFBI	0.801403	0.72712	D	0.688091156168018	0.78853	6.955769	0.661239366376219	0.79450	7.085046	0.999992539546888	0.74766	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.91	5.91	0.95240	6.828000	0.75100	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.708000	0.34389	0.0:0.0:1.0:0.0	17.790	0.88460	788	0.46569	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1123.98	40	chr4	539187	.	G	A	1123.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.741e+00;DP=786;ExcessHet=0.0000;FS=7.809;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-9.180e-01;SOR=0.231	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1093	20	0	1	0
chr4	653934	653934	G	A	exonic	PDE6B	.	nonsynonymous SNV	PDE6B:NM_000283:exon4:c.G794A:p.R265Q	Night blindness, congenital stationary, autosomal dominant 2, Autosomal dominant;Retinitis pigmentosa-40, Autosomal recessive	.	0	1514	8	0	0	8	0.00263505	.	.	194288	not_provided|Retinitis_pigmentosa|Congenital_stationary_night_blindness_autosomal_dominant_2	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0008099,MedGen:C1876182,OMIM:163500,Orphanet:215	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.4	T	1.0	D	0.999	D	0.000	D	1.000	D	1.78	L	-0.47	T	-0.291	T	0.466	T	0.898	4.982	29.2	5.26	2.449	9.447	16.361	0.577	0.0871653649265	0.0009	0.000599042	0.0012	0.0002	0.0007	0	0	0.0014	0.0011	0.0024	0.0011449	177	154602	rs144562730	0.0011	0.0011	0.0010	0.0012	0.0029	0.0010	0.0010	0.0022	0.0020	2.987e-05	0.0006	0.0003	0	1.882e-05	0.0029	0.0011	0.0011	0.0024	0.0008	0.0008	0.0008	0.0009	0.0014	0.0007	0.0007	0.0012	0.0011	0.0002	0	0.0005	0.0012	0	0	0.0034	0.0014	0	0.0012	0.158	0.23905	T	0.314	0.19539	T	1.0	0.90584	D	0.998	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	1.76	0.45711	L	-0.47	0.70133	T	-2.12	0.48184	N	0.898	0.90363	-0.2915	0.75223	T	0.466	0.79394	T	10	0.16307157	0.30545	T	0.087165	0.74882	D	0.577	0.82912	.	.	0.907322125651	0.90639	0.6271360079418107	0.62646	0.638029974731	0.57550	0.719041347504	0.69907	T	0.682089	0.90675	D	0.00553052	0.52414	T	0.22931	0.84636	D	0.0421555607017681	0.04083	T	0.971203	0.89615	D	0.25590616	0.48628	0.1802327	0.40809	0.22691232	0.45381	0.18985724	0.42355	-10.332	0.75875	D	0.3592111516918084	0.45579	0.331	0.60415	B	.;.	.;.	5.511426	0.91687	32	0.99944450236363702	0.99868	0.99109	0.91358	D	AEFDBI	0.932479	0.92291	D	0.727626993757273	0.81445	7.523435	0.729338854430165	0.84606	8.339105	0.999999999928149	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.562822	0.20929	0	.	.	5.26	5.26	0.73479	9.578000	0.97357	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.915000	0.45038	0.0:0.0:1.0:0.0	16.361	0.83100	799	0.44747	.;GAF domain|GAF domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.04762	2973.11	33	chr4	653934	.	G	A	2973.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.56;DP=936;ExcessHet=0.1072;FS=0.954;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=-4.710e-01;SOR=0.762	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1168	19	0	2	0
chr4	681921	681921	T	C	exonic	MYL5	.	nonsynonymous SNV	MYL5:NM_002477:exon7:c.T449C:p.I150T	.	.	416	1078	28	0	0	28	0.0128205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.004	B	0.004	B	0.129	U	1.000	N	1.75	L	-1.15	T	-0.765	T	0.231	T	0.262	0.927	8.777	1.42	0.096	0.923	5.271	0.178	.	0.0059	0.00479233	0.0075	0.0018	0.0021	0	0.0017	0.0093	0.0070	0.0191	0.0059766	924	154602	rs141317789	0.0093	0.0085	0.0091	0.0095	0.0173	0.0091	0.0091	0.0161	0.0156	0.0013	0.0024	0.0012	3.283e-05	0.0014	0.0056	0.0102	0.0080	0.0173	0.0058	0.0058	0.0059	0.0057	0.0137	0.0055	0.0054	0.0111	0.0101	0.0019	0.0044	0.0033	0.0009	0.0002	0.0018	0.0034	0.0096	0.0043	0.0137	0.106	0.38633	T	0.121	0.36233	T	0.004	0.12183	B	0.004	0.10090	B	0.128701	0.18721	U	0.267510	0.999874	0.19925	N	2.295	0.65404	M	-1.15	0.77964	T	-1.77	0.50012	N	0.215	0.24010	-0.7649	0.57138	T	0.231	0.59694	T	10	0.009002179	0.00204	T	.	.	.	0.178	0.44724	.	.	0.411133732114	0.40725	0.25061042175913784	0.24975	0.0390873116171	0.04159	0.476215779781	0.35536	T	0.242099	0.61076	T	-0.394905	0.02500	T	-0.327056	0.41796	T	0.0069959243115661	0.00079	T	0.673433	0.28201	T	0.08375943	0.19357	0.06451452	0.12940	0.08375943	0.19356	0.06451452	0.12940	-8.27	0.62895	D	.	.	0.122	0.37577	B	.;.;.;.	.;.;.;.	1.121668	0.15074	11.57	0.87845361960388701	0.17525	0.06850	0.12875	N	AEFDBHCIJ	0.131200	0.25005	N	-0.76872521194048	0.14130	0.7013712	-0.830459363689203	0.13758	0.7154632	0.999999199229797	0.74766	0.789315	0.99827	0	0.606735	0.50208	0	0.768056	0.98339	0	0.699875	0.68795	0	.	.	4.0	1.42	0.21524	0.010000	0.13140	.	.	0.656000	0.54149	0.000000	0.06391	0.000000	0.08366	0.388000	0.26514	0.0:0.1008:0.1794:0.7199	5.271	0.14937	814	0.42100	.;.;.;EF-hand domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1552.11	33	chr4	681921	.	T	C	1552.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.840e-01;DP=821;ExcessHet=0.1072;FS=2.887;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.70;ReadPosRankSum=1.65;SOR=0.471	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1077	19	0	2	0
chr4	689091	689091	C	T	exonic	SLC49A3	.	nonsynonymous SNV	SLC49A3:NM_001294341:exon1:c.G37A:p.E13K	.	.	414	1093	15	0	0	15	0.00681508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.976	D	0.253	B	0.005	N	0.850	N	0	N	-2.89	D	-0.102	T	0.506	D	0.135	2.445	14.14	1.95	0.491	-0.697	7.618	0.266	.	0.0025	0.0103834	0.0169	0.0006	0.0046	0.0103	0.0035	0.0084	0.0225	0.0444	0.0061513	951	154602	rs200792845	0.0059	0.0058	0.0053	0.0065	0.0287	0.0058	0.0057	0.0277	0.0273	0.0007	0.0026	0.0050	0.0050	0.0007	0.0147	0.0046	0.0068	0.0287	0.0038	0.0038	0.0035	0.0041	0.0292	0.0035	0.0034	0.0253	0.0238	0.0007	0.0044	0.0032	0.0052	0.0054	0.0004	0.0034	0.0042	0.0057	0.0292	0.041	0.41915	D	0.117	0.46862	T	0.976	0.58310	D	0.253	0.39112	B	0.005448	0.01079	N	3.018490	1	0.08975	N	.	.	.	-3.65	0.95179	D	-1.24	0.33998	N	0.351	0.39254	-0.1020	0.80052	T	0.506	0.81387	D	10	0.0037614107	0.00070	T	.	.	.	0.266	0.57999	.	.	.	.	0.4377719039113401	0.43694	0.18652948801	0.20965	0.67194545269	0.63115	T	0.054875	0.29848	T	-0.375784	0.03311	T	-0.286802	0.46105	T	0.0159443126777954	0.00378	T	0.562444	0.19755	T	0.033334464	0.03532	0.045078054	0.05985	0.033334464	0.03532	0.045078054	0.05985	-5.478	0.42045	T	.	.	0.131	0.34316	B	.;.;.;.;.	.;.;.;.;.	1.022861	0.14027	10.59	0.97768630504944953	0.35857	0.06768	0.12791	N	AEFDBHCI	0.064944	0.12640	N	-0.772653516134243	0.14025	0.6953962	-0.882613018244024	0.12505	0.6436769	0.999999326871293	0.74766	0.65757	0.49021	0	0.616935	0.53198	0	0.619478	0.44681	0	0.492483	0.08430	1	.	.	2.85	1.95	0.25130	-0.052000	0.11821	.	.	-1.093000	0.01529	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7347:0.2653:0.0	7.618	0.27336	900	0.24599	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1292.98	40	chr4	689091	.	C	T	1292.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.683;DP=812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.43;ReadPosRankSum=-6.060e-01;SOR=0.638	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1255	20	0	1	0
chr4	893910	893910	G	A	exonic	GAK	.	nonsynonymous SNV	GAK:NM_001318134:exon5:c.C604T:p.H202Y	.	.	407	1089	25	1	0	27	0.0122449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.777	P	0.359	B	0.008	N	1.000	N	0.605	N	2.1	T	-1.035	T	0.028	T	0.277	1.357	10.46	-2.3	-0.723	0.822	6.293	0.056	0.00840757660108	0.0017	0.000399361	0.0017	0.0003	0.0004	0	0.0002	0.0022	0.0024	0.0037	0.0014748	228	154602	rs143895569	0.0012	0.0013	0.0011	0.0014	0.0087	0.0012	0.0012	0.0068	0.0061	0.0003	0.0007	0.0098	2.519e-05	0.0002	0.0087	0.0009	0.0019	0.0043	0.0011	0.0011	0.0010	0.0011	0.0037	0.0009	0.0009	0.0024	0.0020	0.0003	0	0.0008	0.0086	0	0.0002	0.0204	0.0011	0.0033	0.0037	0.004	0.65419	D	0.02	0.67890	D	0.371	0.34093	B	0.359	0.43123	B	0.008363	0.30877	N	0.376802	1	0.08975	N	0.175	0.09039	N	2.1	0.19990	T	-1.93	0.44852	N	0.36	0.43029	-1.0348	0.18920	T	0.028	0.11882	T	10	0.010140032	0.00227	T	0.008408	0.22257	T	0.056	0.15993	.	.	0.267718591433	0.26370	0.5013010322519555	0.50052	0.178406829687	0.20072	0.278040200472	0.07221	T	0.072032	0.34354	T	-0.533078	0.00368	T	-0.541242	0.18174	T	0.00960197410962139	0.00125	T	0.950605	0.81406	D	0.2469717	0.47671	0.2177819	0.46456	0.2469717	0.47671	0.2177819	0.46455	-6.874	0.53314	T	.	.	0.078	0.07412	B	.;.	.;.	0.688373	0.10569	7.277	0.97481198633332877	0.34188	0.10332	0.15868	N	AEFBCI	0.062690	0.12068	N	-1.01510527271143	0.08289	0.3881664	-1.13499864470885	0.07040	0.3410092	0.12266499852928	0.16919	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.85	-2.3	0.06399	0.952000	0.28747	.	.	-0.140000	0.12423	0.107000	0.22934	0.000000	0.08366	0.003000	0.05239	0.0:0.1826:0.1226:0.6949	6.293	0.20277	779	0.47767	Protein kinase domain|Protein kinase domain|Protein kinase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1223.98	33	chr4	893910	.	G	A	1223.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.045e+00;DP=838;ExcessHet=0.0000;FS=1.445;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.87;ReadPosRankSum=-2.046e+00;SOR=0.607	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1410	20	0	1	0
chr4	967750	967750	C	G	exonic	DGKQ	.	nonsynonymous SNV	DGKQ:NM_001347:exon7:c.G864C:p.E288D,	.	.	400	1120	2	0	0	2	0.000892061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.002	B	0.002	B	0.332	N	1.000	N	0	N	-1.43	T	-1.013	T	0.019	T	0.122	1.211	9.917	-0.105	-0.050	0.201	1.354	0.015	0.100381384939	0.0002	0.00139776	0.0005	0	0	0.0026	0	0.0003	0.0045	0.0004	0.0003493	54	154602	rs199893491	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0002	0.0015	0.0014	0.0003	0	0.0004	0.0019	3.861e-05	0.0005	9.631e-05	0.0005	0.0004	0.0002	0.0002	0.0001	0.0002	0.0031	0.0001	9.698e-05	0.0020	0.0016	0	0	0	0.0006	0.0031	0	0	7.353e-05	0	0.0004	0.271	0.15984	T	0.31	0.19721	T	0.001	0.07471	B	0.002	0.06944	B	0.331732	0.14102	N	0.709161	0.99999	0.08975	N	0.615	0.15706	N	-1.43	0.80730	T	-0.59	0.17624	N	0.155	0.16028	-1.0134	0.25848	T	0.019	0.08126	T	10	0.00444448	0.00091	T	0.100381	0.77262	D	0.131	0.35738	0.088	0.00943	0.636509788131	0.63352	0.2809234431563233	0.28005	0.111139760548	0.12538	0.717511892319	0.69683	T	0.042174	0.26097	T	-0.458757	0.01001	T	-0.444979	0.28253	T	0.00236147041178611	0.00024	T	0.374163	0.08891	T	0.04737121	0.08085	0.038558327	0.03751	0.04737121	0.08084	0.038558327	0.03751	-3.994	0.23714	T	.	.	0.087	0.11269	B	.	.	0.914773	0.12892	9.404	0.89919946322771782	0.19219	0.11996	0.16994	N	AEFDBCI	0.070472	0.13991	N	-0.929817800963356	0.10149	0.4836547	-1.03129673983873	0.09100	0.4509339	0.999940823255344	0.47345	0.660377	0.49826	0	0.694456	0.67091	0	0.619478	0.44681	0	0.635551	0.53088	0	.	.	3.74	-0.105	0.12938	-0.038000	0.12096	.	.	-0.181000	0.10308	0.000000	0.06391	0.034000	0.21380	0.088000	0.17685	0.1777:0.4633:0.1734:0.1856	1.354	0.02048	759	0.50631	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1253.98	52	chr4	967750	.	C	G	1253.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.384e+00;DP=870;ExcessHet=0.0000;FS=1.537;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=0.746;SOR=0.518	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr4	1004343	1004343	T	C	exonic	IDUA	.	nonsynonymous SNV	IDUA:NM_001363576:exon13:c.T1516C:p.Y506H	Mucopolysaccharidosis Ih, Autosomal recessive;Mucopolysaccharidosis Ih/s, Autosomal recessive;Mucopolysaccharidosis Is, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.98	D	0.000	D	0.993	D	1.91	M	-1.03	T	0.090	D	0.557	D	0.646	2.368	13.88	5.55	2.133	1.710	12.124	0.395	0.241561300844	.	.	8.387e-06	0	0	0	0	0	0	6.068e-05	6.5e-06	1	154602	rs747181335	1.37e-06	1.368e-06	1.363e-06	1.377e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.657e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.30097	T	0.0	0.92824	D	1.0	0.90584	D	0.98	0.74843	D	0.000010	0.62929	D	0.068291	0.992757	0.41734	D	2.3	0.65703	M	-1.03	0.76430	T	-2.34	0.53577	N	0.366	0.40765	0.090	0.83998	D	0.557	0.83845	D	10	0.46915224	0.59755	T	0.241561	0.88722	D	0.395	0.71004	.	.	0.818986813389	0.81727	0.8529289048587597	0.85254	0.862198414937	0.69012	0.634007573128	0.57713	T	0.477364	0.80763	T	-0.0371229	0.46376	T	-0.109573	0.62647	T	0.746490776538849	0.43090	D	0.727827	0.34232	T	0.37884805	0.59233	0.18747589	0.41982	0.37884805	0.59234	0.18747589	0.41982	-4.37	0.29147	T	0.5075353242325261	0.58176	0.270	0.50389	B	.;.	.;.	3.022640	0.40463	21.2	0.99200245068054749	0.55261	0.80170	0.39880	D	AEFBI	0.096763	0.19528	N	0.0384888411291798	0.43615	2.650882	-0.0259251952680616	0.38547	2.272652	0.945695808373697	0.27672	0.706298	0.61202	0	0.709663	0.81188	0	0.673471	0.61138	0	0.63947	0.58350	0	.	.	5.55	5.55	0.83298	2.365000	0.43849	.	.	0.661000	0.55757	0.246000	0.24809	0.732000	0.26423	0.002000	0.04165	0.0:0.0:0.0:1.0	12.124	0.53207	856	0.34373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	795.98	37	chr4	1004343	.	T	C	795.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.700e-02;DP=779;ExcessHet=0.0000;FS=2.276;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=-1.157e+00;SOR=0.402	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr4	1023652	1023652	C	T	exonic	FGFRL1	.	nonsynonymous SNV	FGFRL1:NM_021923:exon3:c.C364T:p.P122S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.004	B	0.129	N	1.000	N	-0.205	N	-0.23	T	-1.015	T	0.089	T	0.117	-1.675	0.012	0.884	0.183	-1.205	1.460	0.042	0.0778039417912	.	.	0.0002	0	0	0	0	0	0	0.0012	8.41e-05	13	154602	rs755924836	4.065e-05	4.241e-05	1.643e-05	6.518e-05	0.0007	3.201e-05	2.931e-05	0.0005	0.0005	0	0	0	0	0	0	0	5.01e-05	0.0007	2.63e-05	2.627e-05	0	5.383e-05	0.0008	8.15e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.944	0.05198	T	0.57	0.08808	T	0.002	0.09854	B	0.004	0.10090	B	0.128964	0.18712	N	0.558118	1	0.08975	N	1.01	0.25309	L	-0.69	0.72678	T	-0.38	0.42763	N	0.13	0.12484	-1.0151	0.25304	T	0.089	0.34408	T	10	0.016295314	0.00343	T	0.077804	0.72856	D	0.042	0.11227	0.385	0.40460	0.514671000977	0.51109	0.278262011722841	0.27739	0.142493270988	0.16072	0.470772385597	0.34786	T	0.084	0.37114	T	-0.451244	0.01111	T	-0.507687	0.21552	T	0.0463060066103935	0.04839	T	0.707729	0.31835	T	0.028111288	0.02100	0.035514608	0.02818	0.028111288	0.02099	0.035514608	0.02818	-4.262	0.27641	T	.	.	0.082	0.25034	B	.;.;.;.;.	.;.;.;.;.	0.033021	0.04515	1.216	0.72230356182970623	0.09901	0.01760	0.05534	N	AEFBI	0.045220	0.07371	N	-1.23291456558128	0.04530	0.2046269	-1.17518457114161	0.06326	0.3041856	0.0159818765905392	0.12778	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.24	0.884	0.18317	-0.910000	0.04163	0.063000	0.14158	0.584000	0.30380	0.000000	0.06391	0.000000	0.08366	0.587000	0.31065	0.151:0.4129:0.1508:0.2852	1.460	0.02248	878	0.29785	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	675.98	34	chr4	1023652	.	C	T	675.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.215;DP=754;ExcessHet=0.0000;FS=2.316;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=-1.398e+00;SOR=0.689	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1368	20	0	1	0
chr4	1025268	1025268	-	CACA	exonic	FGFRL1	.	frameshift insertion	FGFRL1:NM_021923:exon6:c.1436_1437insCACA:p.S486Tfs*67	.	.	414	774	328	1	5	335	0.175719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	734.34	34	chr4	1025266	.	CCA	C,CCACACA	734.34	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-9.200e-02;DP=1325;ExcessHet=4.7172;FS=1.630;InbreedingCoeff=-0.2727;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=1.06;ReadPosRankSum=0.069;SOR=0.760	GT:AD:DP:GQ:PL	0/0:79,0,0:79:99:0,120,1800,120,1800,1800	12	0	8	0
chr4	1081428	1081428	G	C	exonic	RNF212	.	nonsynonymous SNV	RNF212:NM_001131034:exon7:c.C455G:p.A152G	Recombination rate QTL 1	.	28	1449	43	2	0	47	0.0159593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.13	B	0.05	B	.	.	1.000	N	1.1	L	0.79	T	-1.023	T	0.076	T	0.031	0.011	4.069	1.28	0.113	0.404	3.029	0.023	.	0.0008	0.00379393	0.0033	9.614e-05	0.0006	0	0	0.0011	0.0044	0.0187	0.0028978	448	154602	rs149485506	0.0018	0.0018	0.0012	0.0023	0.0182	0.0017	0.0017	0.0175	0.0172	0.0001	0.0010	0.0028	2.519e-05	0	0.0080	0.0006	0.0021	0.0182	0.0011	0.0011	0.0009	0.0014	0.0135	0.0010	0.0010	0.0109	0.0099	7.218e-05	0	0.0017	0.0032	0	0	0.0034	0.0009	0.0024	0.0135	0.108	0.38633	T	0.419	0.14158	T	0.13	0.27095	B	0.034	0.25278	B	.	.	.	.	1	0.08975	N	0.46	0.12951	N	0.79	0.49068	T	-1.15	0.29525	N	0.098	0.07949	-1.0234	0.22606	T	0.076	0.30397	T	9	0.003075391	0.00051	T	.	.	.	0.023	0.04649	.	.	0.43912465853	0.43530	0.032708534155181324	0.03218	0.140165736158	0.15799	0.294128298759	0.09529	T	0.010434	0.09426	T	-0.669486	0.00055	T	-0.720167	0.04788	T	0.00264690105387411	0.00028	T	0.155984	0.01369	T	0.040004596	0.05631	0.03641426	0.03083	0.040004596	0.05631	0.03641426	0.03083	-3.383	0.14829	T	.	.	0.101	0.22208	B	.;.	.;.	0.524532	0.08933	5.714	0.48703724421198052	0.04086	0.12890	0.17541	N	ALL	0.067024	0.13154	N	-1.10675219334992	0.06522	0.3004596	-1.15003070414155	0.06767	0.3268699	0.99999999999825	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.586402	0.36253	0	.	.	4.07	1.28	0.20656	0.240000	0.17822	3.753000	0.39691	-0.126000	0.13398	0.000000	0.06391	0.984000	0.30665	0.000000	0.00833	0.2406:0.0:0.545:0.2144	3.029	0.05732	883	0.28872	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1261.11	33	chr4	1081428	.	G	C	1261.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.620;DP=751;ExcessHet=0.1072;FS=1.860;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=1.67;SOR=0.493	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1192	19	0	2	0
chr4	1093984	1093984	G	A	exonic	RNF212	.	nonsynonymous SNV	RNF212:NM_001193318:exon4:c.C277T:p.L93F,	Recombination rate QTL 1	.	9	1472	40	1	0	42	0.0140656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.991	D	0.934	D	0.312	U	1.000	N	0	N	.	.	-1.061	T	0.060	T	0.028	0.659	7.532	0.637	0.608	0.349	.	0.061	.	.	0.00898562	0.0077	0.0226	0.0111	0	0	0.0117	0.0183	0.0056	0.0013389	207	154602	rs150642883	0.0033	0.0032	0.0033	0.0034	0.0188	0.0032	0.0032	0.0164	0.0159	0.0176	0.0071	0.0188	0	0.0001	0.0188	0.0023	0.0066	0.0045	0.0076	0.0076	0.0078	0.0075	0.0174	0.0073	0.0071	0.0164	0.0160	0.0174	0	0.0081	0.0164	0	9.427e-05	0.0442	0.0028	0.0142	0.0044	0.02	0.49613	D	0.149	0.32568	T	.	.	.	.	.	.	0.311924	0.14418	U	0.551000	1	0.08975	N	.	.	.	.	.	.	-0.19	0.09965	N	0.078	0.05287	-1.0608	0.11557	T	0.060	0.24945	T	8	0.0044107735	0.00090	T	.	.	.	0.061	0.17616	.	.	0.195762928549	0.19159	.	.	.	.	.	.	.	.	.	.	-0.661055	0.00062	T	-0.707399	0.05431	T	0.00554193375632146	0.00060	T	0.267673	0.04439	T	.	.	.	.	.	.	.	.	-4.994	0.36775	T	.	.	0.196	0.41693	B	.	.	0.619360	0.09878	6.639	0.91043257399491551	0.20295	0.01393	0.04730	N	AEFDBI	0.045506	0.07451	N	-0.549557935187204	0.20498	1.080975	-0.796138755774919	0.14590	0.7630941	1.07826579291847E-4	0.05123	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.637	0.637	0.16907	0.461000	0.21651	0.411000	0.18111	0.591000	0.32079	0.003000	0.16062	0.003000	0.18671	0.016000	0.10718	.	.	.	883	0.28872	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	819.98	45	chr4	1093984	.	G	A	819.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=881;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=0.528;SOR=0.603	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1100	20	0	1	0
chr4	1351818	1351818	C	T	exonic	UVSSA	.	nonsynonymous SNV	UVSSA:NM_001317934:exon4:c.C533T:p.A178V	UV-sensitive syndrome 3, Autosomal recessive	.	0	1512	10	0	0	10	0.00329598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.968	D	0.403	B	0.000	D	1.000	D	1.44	L	1.48	T	-1.072	T	0.083	T	0.583	3.154	16.55	5.11	2.389	4.523	18.527	0.139	0.0266340579345	.	.	0.0002	0	8.718e-05	0	0	0	0.0011	0.0016	0.0001876	29	154602	rs373828028	0.0001	0.0001	6.537e-05	0.0002	0.0013	9.945e-05	9.354e-05	0.0011	0.0010	0	0	0	0	0	0.0012	2.879e-05	0.0003	0.0013	3.938e-05	3.937e-05	1.284e-05	6.711e-05	0.0008	1.714e-05	1.128e-05	0.0003	0.0002	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0008	0.025	0.47320	D	0.008	0.67890	D	0.968	0.56581	D	0.403	0.44588	B	0.000003	0.62929	D	0.102838	0.999998	0.58761	D	1.99	0.53851	M	1.48	0.31731	T	-2.13	0.48354	N	0.497	0.53357	-1.0722	0.08936	T	0.083	0.32499	T	10	0.043649048	0.03237	T	0.026634	0.49530	D	0.139	0.37390	.	.	0.144782658237	0.14088	0.060773034816232294	0.06017	0.106089494125	0.11996	0.402099132538	0.25362	T	0.02497	0.18762	T	-0.37026	0.03581	T	-0.334708	0.40943	T	0.088393822312355	0.11025	T	0.656934	0.26653	T	0.2069696	0.42889	0.1725506	0.39518	0.19224231	0.40886	0.17018466	0.39107	-7.897	0.60366	D	0.4450468896175523	0.52987	0.216	0.44501	B	.;.;.	.;.;.	4.113866	0.61441	24.3	0.99766147989002574	0.85500	0.93557	0.58542	D	AEFDGBCIJ	0.393382	0.47105	N	0.217886088990928	0.52066	3.383255	0.205512522432261	0.50152	3.210364	0.999999999999987	0.74766	0.631981	0.41245	0	0.26897	0.04874	2	0.779548	0.98927	0	0.683535	0.66460	0	.	.	5.11	5.11	0.69188	4.608000	0.60847	3.786000	0.39810	0.599000	0.40250	0.999000	0.42656	0.999000	0.35428	0.139000	0.19909	0.0:1.0:0.0:0.0	18.527	0.90928	795	0.45444	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3174.11	35	chr4	1351818	.	C	T	3174.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.64;DP=921;ExcessHet=0.1072;FS=1.605;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=-9.810e-01;SOR=0.572	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1269	19	0	2	0
chr4	1353161	1353161	C	T	exonic	UVSSA	.	nonsynonymous SNV	UVSSA:NM_001317934:exon5:c.C682T:p.R228C	UV-sensitive syndrome 3, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	3348684	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	0.143	B	0.001	B	0.001	N	1.000	N	-1.1	N	1.46	T	-1.029	T	0.022	T	0.119	0.784	8.134	-5.46	-2.966	-0.546	2.002	0.027	0.00241278864434	7.7e-05	0.000399361	0.0001	0	0	0.0004	0	0	0	0.0007	0.00011	17	154602	rs148799777	8.147e-05	8.14e-05	6.948e-05	9.359e-05	0.0007	6.94e-05	6.492e-05	0.0005	0.0005	5.974e-05	2.236e-05	0	0.0007	0	0	2.878e-05	4.969e-05	0.0006	6.563e-05	6.561e-05	6.421e-05	6.711e-05	0.0006	3.513e-05	2.613e-05	0.0002	8.996e-05	4.809e-05	0	0	0	0.0006	0	0	2.94e-05	0	0.0006	0.201	0.20306	T	0.086	0.40909	T	0.143	0.27649	B	0.001	0.04355	B	0.000780	0.00685	N	13.948400	1	0.08975	N	-1.1	0.00987	N	1.46	0.32238	T	0.03	0.06612	N	0.118	0.10769	-1.0288	0.20843	T	0.022	0.09284	T	10	0.011076987	0.00244	T	0.002413	0.04729	T	0.027	0.05988	.	.	0.0401082797425	0.02173	0.12945316351371028	0.12870	0.0158928069181	0.01516	0.26249229908	0.05190	T	0.013159	0.11431	T	-0.59925	0.00147	T	-0.722712	0.04666	T	0.0148329291967063	0.00313	T	0.459554	0.13284	T	0.02256554	0.00928	0.02446993	0.00467	0.035620913	0.04226	0.024876708	0.00515	-4.14	0.25877	T	.	.	0.068	0.02797	B	.;.;.	.;.;.	0.510644	0.08794	5.572	0.82927630832110855	0.14449	0.01247	0.04392	N	AEFDBI	0.021942	0.01037	N	-1.94673286640403	0.00275	0.01177799	-2.02036070107632	0.00277	0.01223784	0.999914520133142	0.45857	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	2.73	-5.46	0.02404	-0.528000	0.06280	-3.577000	0.02683	-1.078000	0.01575	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1266:0.1683:0.3843:0.3208	2.002	0.03258	796	0.45353	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3286.98	277	chr4	1353161	.	C	T	3286.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.12;DP=1010;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=-6.730e-01;SOR=0.718	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1345	20	0	1	0
chr4	1380225	1380225	-	TGAAGG	exonic	UVSSA	.	nonframeshift insertion	UVSSA:NM_001317934:exon11:c.1747_1748insTGAAGG:p.K584_C585insVK	UV-sensitive syndrome 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.717e-05	0	0	0	0	0	0.0013	0.0001	1.94e-05	3	154602	rs764483492	1.577e-05	1.573e-05	1.5e-05	1.655e-05	0.0003	1.05e-05	8.77e-06	0.0002	0.0001	0.0003	0	0	0	0	0.0002	0	4.982e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1284.94	36	chr4	1380225	.	C	CTGAAGG	1284.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.766;DP=774;ExcessHet=0.0000;FS=1.076;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.78;ReadPosRankSum=-1.830e-01;SOR=0.876	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr4	1383837	1383837	A	G	exonic	UVSSA	.	nonsynonymous SNV	UVSSA:NM_001317934:exon13:c.A1933G:p.S645G	UV-sensitive syndrome 3, Autosomal recessive	.	0	1503	18	1	0	20	0.00660939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.001	B	0.004	B	0.710	N	1.000	N	1.21	L	1.56	T	-1.015	T	0.058	T	0.046	-1.222	0.062	-4.12	-0.950	-0.063	1.532	0.010	0.0037136444809	0.0002	0.000599042	0.0005	0	0.0002	0.0003	0	0.0003	0	0.0026	0.0004528	70	154602	rs201318732	0.0003	0.0003	0.0002	0.0004	0.0026	0.0003	0.0003	0.0022	0.0021	2.987e-05	0.0002	0.0015	7.557e-05	1.894e-05	0.0026	0.0001	0.0006	0.0025	0.0003	0.0003	0.0002	0.0003	0.0015	0.0002	0.0002	0.0007	0.0005	0	0	0.0001	0.0014	0	0	0	0.0004	0.0009	0.0015	0.573	0.10020	T	0.286	0.23845	T	0.001	0.07471	B	0.004	0.10090	B	0.710106	0.10021	N	0.896444	1	0.08975	N	0.805	0.20218	L	1.56	0.42502	T	-0.5	0.24460	N	0.099	0.08088	-1.0154	0.25207	T	0.058	0.24204	T	10	0.005978614	0.00134	T	0.003714	0.08589	T	0.010	0.01040	.	.	0.0297737177859	0.01360	0.1538222070765325	0.15304	0.0152523105094	0.01452	0.272158384323	0.06424	T	0.036624	0.24175	T	-0.67779	0.00049	T	-0.751301	0.03435	T	0.00574786982365525	0.00063	T	0.374863	0.08927	T	0.022671392	0.00946	0.023782352	0.00391	0.022422122	0.00904	0.02780293	0.00961	-2.727	0.07532	T	0.09284901968223057	0.06045	0.055	0.00412	B	.;.;.;.;.	.;.;.;.;.	-1.197671	0.00533	0.012	0.39955257370670688	0.02790	0.02627	0.07216	N	AEFBI	0.037822	0.05260	N	-1.5382268697818	0.01604	0.07012771	-1.60868813775984	0.01603	0.07272763	5.41867196343739E-4	0.07273	0.660377	0.49826	0	0.694456	0.67091	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.75	-4.12	0.03650	-0.275000	0.08557	-1.970000	0.04414	-1.514000	0.01012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3667:0.2436:0.2718:0.1179	1.532	0.02384	836	0.38045	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1494.98	39	chr4	1383837	.	A	G	1494.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.353e+00;DP=901;ExcessHet=0.0000;FS=4.868;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=-1.727e+00;SOR=0.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1530	20	0	1	0
chr4	1403186	1403186	C	A	exonic	NKX1-1	.	nonsynonymous SNV	NKX1-1:NM_001290079:exon2:c.G1093T:p.G365C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	.	.	.	.	.	.	-2.66	D	0.579	D	0.711	D	0.33	2.818	15.39	2.53	1.248	2.953	8.319	0.276	0.940381915828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.989e-06	1.523e-05	0	7.265e-06	3.515e-05	6.6e-07	2.5e-07	5.83e-06	2.18e-06	0	0	0	0	0	0	0	0	3.515e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.66	0.90272	D	-1.44	0.35399	N	0.231	0.25989	0.579	0.91621	D	0.711	0.90072	D	5	0.35078844	0.51943	T	0.940382	0.99578	D	0.276	0.59253	0.17	0.07536	0.815788755872	0.81405	0.5530436285926666	0.55230	2.3366587761	0.96723	.	.	.	0.098576	0.40252	T	0.0666899	0.60443	T	-0.141981	0.59946	T	0.889991223812103	0.54076	D	0.589541	0.21661	T	0.30523652	0.53370	0.32575473	0.58488	0.30523652	0.53370	0.32575473	0.58487	-13.047	0.89556	D	.	.	0.253	0.48756	B	.	.	3.724591	0.53242	23.3	0.99632649569196241	0.76142	0.64616	0.32465	D	AEFDBCI	0.315567	0.42010	N	-0.0964382645586347	0.37548	2.186098	-0.164044181450269	0.32870	1.874487	0.995434014086103	0.34125	0.59774	0.34471	0	0.547309	0.14657	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	2.53	2.53	0.29594	2.338000	0.43614	4.419000	0.43309	0.439000	0.21057	0.271000	0.25055	1.000000	0.68203	0.145000	0.20128	0.0:1.0:0.0:0.0	8.319	0.31276	866	0.32446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2650.98	36	chr4	1403186	.	C	A	2650.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.65;DP=954;ExcessHet=0.0000;FS=1.712;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=-8.320e-01;SOR=0.858	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1150	20	0	1	0
chr4	1403786	1403786	C	A	exonic	NKX1-1	.	nonsynonymous SNV	NKX1-1:NM_001290079:exon2:c.G493T:p.A165S,	.	.	356	1160	5	1	0	7	0.00300817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	.	.	.	.	.	.	.	.	.	.	-2.42	D	-0.427	T	0.459	T	0.123	1.080	9.407	0.089	0.494	-1.018	5.274	0.120	.	.	0.00479233	0.0055	0.0088	0	0	0	0.0089	0	0.0044	0.0034217	529	154602	rs532356178	0.0098	0.0090	0.0104	0.0094	0.0136	0.0096	0.0095	0.0132	0.0131	0.0030	0.0062	0.0016	3.591e-05	0.0058	0.0023	0.0136	0.0092	0.0044	0.0089	0.0089	0.0096	0.0082	0.0149	0.0085	0.0084	0.0142	0.0138	0.0028	0.0022	0.0077	0.0012	0	0.0061	0	0.0149	0.0076	0.0048	0.098	0.30800	T	0.819	0.03840	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.42	0.88611	D	0.12	0.05604	N	0.089	0.06720	-0.4274	0.71150	T	0.459	0.79004	T	5	0.004193127	0.00083	T	.	.	.	0.120	0.33359	.	.	0.660021366681	0.65717	0.09096303956255702	0.09029	1.00729817364	0.74630	.	.	.	0.008981	0.08204	T	-0.456665	0.01031	T	-0.414464	0.31711	T	0.00158348724991542	0.00016	T	0.275872	0.04729	T	0.044643436	0.07173	0.063569166	0.12613	0.044643436	0.07172	0.063569166	0.12612	-4.149	0.26009	T	.	.	0.080	0.07937	B	.	.	0.960583	0.13370	9.876	0.97423002471614917	0.33885	0.04022	0.09455	N	AEFDBCI	0.029227	0.02720	N	-0.559413893944103	0.20190	1.062508	-0.680684683238406	0.17444	0.9275808	0.964911884077596	0.28794	0.59774	0.34471	0	0.547309	0.14657	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	3.67	0.089	0.13766	-2.091000	0.01443	1.390000	0.26108	-0.336000	0.05739	0.000000	0.06391	0.824000	0.27153	0.003000	0.05239	0.4386:0.4433:0.0:0.1181	5.274	0.14954	866	0.32446	.	MAEA|MAEA	Nerve_Tibial|Thyroid	MAEA	Lung	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1690.98	35	chr4	1403786	.	C	A	1690.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.110e+00;DP=982;ExcessHet=0.0000;FS=0.613;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=-3.640e-01;SOR=0.773	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1150	20	0	1	0
chr4	1655460	1655460	G	A	exonic	FAM53A	.	nonsynonymous SNV	FAM53A:NM_001013622:exon4:c.C400T:p.R134W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	B	0.048	B	0.131	N	0.991	D	2.24	M	0.44	T	-1.034	T	0.118	T	0.319	0.911	8.706	1.19	-0.086	0.887	2.369	0.137	0.127120705543	7.9e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374163438	2.64e-05	3.283e-05	1.97e-05	3.33e-05	6.536e-05	1.948e-05	1.701e-05	1.884e-05	1.628e-05	6.536e-05	2.795e-05	0	0	0	0	2.685e-05	8.71e-05	0	3.941e-05	3.94e-05	5.138e-05	2.689e-05	9.647e-05	1.715e-05	1.129e-05	3.248e-05	1.914e-05	9.647e-05	0	0	0	0	0	0	2.94e-05	0	0	0.033	0.48642	D	0.002	0.79402	D	0.35	0.33644	B	0.048	0.24975	B	0.131370	0.18625	N	0.421653	0.991435	0.41387	D	2.435	0.70606	M	0.44	0.56609	T	-5.85	0.88495	D	0.365	0.40665	-1.0336	0.19300	T	0.118	0.41538	T	9	0.18391407	0.33741	T	0.127121	0.80888	D	0.137	0.36984	.	.	0.284539287134	0.28064	0.28032314999303326	0.27945	0.0995600239955	0.11238	0.512915253639	0.40630	T	0.133739	0.46458	T	-0.11228	0.34391	T	-0.399059	0.33492	T	0.0950866694406165	0.11807	T	0.468753	0.13831	T	0.0876286	0.20412	0.10369	0.24886	0.0876286	0.20412	0.10369	0.24885	-5.717	0.43845	T	.	.	0.103	0.18539	B	.;.;.;.	.;.;.;.	0.895407	0.12690	9.213	0.97299397695589296	0.33271	0.85858	0.45040	D	AEFDBI	0.524916	0.54791	D	-0.749509924811342	0.14647	0.7313761	-0.810788023992361	0.14235	0.7427045	0.062329294305774	0.15260	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.94	1.19	0.20120	0.938000	0.28562	-0.096000	0.11999	-3.613000	0.00071	0.999000	0.42656	0.000000	0.08366	0.000000	0.00833	0.1697:0.1491:0.5275:0.1537	2.369	0.04062	906	0.23090	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	990.98	57	chr4	1655460	.	G	A	990.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.71;DP=1213;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.77;ReadPosRankSum=-6.860e-01;SOR=0.679	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	20	0	1	0
chr4	1737293	1737293	G	A	exonic	TACC3	.	nonsynonymous SNV	TACC3:NM_006342:exon9:c.G1801A:p.V601M,	.	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.999	D	0.915	D	0.835	N	1.000	N	1.845	L	2.84	T	-1.041	T	0.055	T	0.333	2.112	13.02	0.354	0.100	0.511	6.943	0.074	0.012362974314	.	.	8.287e-06	0	8.67e-05	0	0	0	0	0	6.5e-06	1	154602	rs761464132	6.157e-06	6.156e-06	5.445e-06	6.876e-06	0.0009	2.9e-06	2.1e-06	0.0003	0.0002	0	2.236e-05	0	2.519e-05	0	0.0009	8.993e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.31235	T	0.114	0.36765	T	0.999	0.77913	D	0.915	0.65091	D	0.834767	0.09079	N	0.894418	1	0.08975	N	1.625	0.41611	L	2.84	0.10674	T	-1.21	0.30762	N	0.351	0.39254	-1.0411	0.16981	T	0.055	0.23186	T	10	0.21548584	0.38102	T	0.012363	0.30863	T	0.074	0.21613	0.174	0.08014	0.270889551736	0.26708	0.12797299764545608	0.12722	0.33828758877	0.35804	0.538798868656	0.44276	T	0.104869	0.41482	T	-0.26886	0.11884	T	-0.527121	0.19576	T	0.125419646501541	0.14953	T	0.771423	0.40183	T	0.04516151	0.07345	0.040789634	0.04489	0.04516151	0.07345	0.040789634	0.04489	-4.816	0.34777	T	.	.	0.225	0.45690	B	.	.	2.469455	0.31825	18.86	0.99333801204231231	0.59895	0.44909	0.27422	N	AEFDBCI	0.038984	0.05599	N	-0.409006094837244	0.25153	1.363301	-0.582944636572218	0.19938	1.071969	0.999911772277787	0.45857	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.54	0.354	0.15300	0.404000	0.20722	3.061000	0.36160	0.671000	0.69459	0.514000	0.27064	0.999000	0.35428	0.025000	0.12405	0.0:0.334:0.3517:0.3143	6.943	0.23684	799	0.44747	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3176.11	33	chr4	1737293	.	G	A	3176.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.524e+00;DP=931;ExcessHet=0.1072;FS=2.023;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=0.242;SOR=0.572	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1195	19	0	2	0
chr4	1841697	1841697	T	C	exonic	LETM1	.	nonsynonymous SNV	LETM1:NM_012318:exon3:c.A244G:p.I82V,	.	.	417	1073	30	2	0	34	0.0155963	.	.	720866	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.0	B	0.068	N	1.000	N	-0.55	N	.	.	-1.028	T	0.015	T	0.028	-0.918	0.401	-9.21	-1.907	-0.730	0.331	0.032	.	0.0028	0.00958466	0.0072	0.0002	0.0027	0.0001	0.0005	0.0037	0.01	0.0351	0.0065135	1007	154602	rs61759826	0.0047	0.0047	0.0037	0.0056	0.0344	0.0046	0.0045	0.0333	0.0329	0.0004	0.0037	0.0191	2.519e-05	0.0002	0.0097	0.0025	0.0055	0.0344	0.0034	0.0034	0.0033	0.0036	0.0269	0.0032	0.0031	0.0232	0.0217	0.0005	0.0011	0.0046	0.0219	0.0002	0.0004	0.0170	0.0030	0.0052	0.0269	0.529	0.07048	T	0.719	0.05363	T	0.0	0.02946	B	0.0	0.01387	B	0.068130	0.02219	N	1.895890	1	0.08975	N	0	0.06538	N	.	.	.	0.1	0.05810	N	0.129	0.12341	-1.0283	0.21005	T	0.015	0.05897	T	9	0.0027911067	0.00044	T	.	.	.	0.032	0.07718	.	.	0.128392430309	0.12331	0.14344038944705798	0.14267	0.344413011726	0.36371	0.312982559204	0.12358	T	0.001278	0.00758	T	-0.731799	0.00023	T	-0.798192	0.01948	T	0.00574088410594277	0.00063	T	0.152285	0.01295	T	0.01566273	0.00150	0.018345192	0.00053	0.011207705	0.00014	0.018345192	0.00053	-1.792	0.02485	T	.	.	0.059	0.00834	B	.	.	-1.964256	0.00110	0.002	0.22841734596420277	0.00938	0.02851	0.07609	N	AEFDBI	0.028796	0.02603	N	-1.79425779469062	0.00559	0.02409108	-1.86422658997944	0.00575	0.02551325	0.999999960001115	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.61	-9.21	0.00578	-1.176000	0.03209	-6.055000	0.01510	-0.119000	0.14319	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2198:0.2521:0.2046:0.3235	0.331	0.00296	641	0.64016	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3039.11	41	chr4	1841697	.	T	C	3039.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.47;DP=989;ExcessHet=0.1072;FS=0.912;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.82;ReadPosRankSum=1.48;SOR=0.617	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1416	19	0	2	0
chr4	1841793	1841793	C	T	exonic	LETM1	.	nonsynonymous SNV	LETM1:NM_012318:exon3:c.G148A:p.V50I,	.	.	.	.	.	.	.	.	.	.	.	709258	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.39	T	0.004	B	0.006	B	0.623	N	1.000	N	1.59	L	.	.	-1.019	T	0.052	T	0.014	1.181	9.802	-1.36	-0.001	-0.127	2.760	0.003	.	0.0048	0.00459265	0.0016	0.0171	0.0007	0	0	1.865e-05	0	0	0.0011772	182	154602	rs116034211	0.0005	0.0005	0.0005	0.0004	0.0164	0.0004	0.0004	0.0152	0.0148	0.0164	0.0006	0	0	0	0.0012	4.414e-05	0.0008	1.162e-05	0.0044	0.0044	0.0043	0.0045	0.0155	0.0041	0.0040	0.0145	0.0142	0.0155	0	0.0014	0	0	0	0	0	0.0009	0.0002	0.119	0.28026	T	0.389	0.15554	T	0.0	0.02946	B	0.001	0.04355	B	0.623355	0.10756	N	0.819604	1	0.08975	N	0.74	0.18910	N	.	.	.	-0.28	0.11547	N	0.128	0.12198	-1.0189	0.24074	T	0.052	0.22037	T	9	0.0031474829	0.00053	T	.	.	.	0.003	0.00094	.	.	0.326074293725	0.32213	0.1616753322737165	0.16088	0.336783852735	0.35672	0.279425472021	0.07412	T	0.002041	0.01452	T	-0.668086	0.00056	T	-0.719462	0.04822	T	0.000831243842782092	0.00008	T	0.383762	0.09387	T	0.030250018	0.02655	0.03210785	0.01896	0.022462754	0.00911	0.030055009	0.01413	-4.358	0.28982	T	.	.	0.071	0.03964	B	.	.	0.066677	0.04760	1.382	0.86446427021772965	0.16541	0.05893	0.11843	N	AEFDBI	0.036474	0.04866	N	-1.14286078619419	0.05898	0.2701184	-1.20608993202707	0.05811	0.27796	0.997968120104015	0.36249	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.75	-1.36	0.08610	0.179000	0.16653	-2.869000	0.03278	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.1109:0.431:0.1156:0.3425	2.760	0.04978	641	0.64016	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	323.98	33	chr4	1841793	.	C	T	323.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.688e+00;DP=772;ExcessHet=0.0000;FS=2.694;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.00;ReadPosRankSum=-6.360e-01;SOR=1.678	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1416	20	0	1	0
chr4	2129194	2129194	T	C	exonic	POLN	.	nonsynonymous SNV	POLN:NM_181808:exon18:c.A1852G:p.T618A,	.	.	437	1082	3	0	0	3	0.0013844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.987	D	0.715	P	0.003	N	0.805	D	1.81	L	-4.14	D	0.702	D	0.846	D	0.417	1.149	9.678	3.45	0.717	2.736	8.451	0.582	0.0491420649085	0.0007	.	0.0005	0.0004	0.0006	0	0	0.0007	0.0011	0.0002	0.0005045	78	154602	rs150570640	0.0009	0.0009	0.0009	0.0008	0.0014	0.0008	0.0008	0.0010	0.0009	0.0002	0.0005	0.0012	0	7.495e-05	0.0014	0.0010	0.0011	0.0003	0.0005	0.0005	0.0005	0.0005	0.0009	0.0004	0.0004	0.0007	0.0006	0.0002	0	0.0003	0.0012	0	0	0	0.0009	0	0	0.126	0.27194	T	0.018	0.59732	D	0.082	0.24665	B	0.105	0.31087	B	0.003458	0.34930	N	0.266517	0.804641	0.34557	D	1.835	0.48228	L	-4.14	0.96772	D	-2.69	0.57435	D	0.391	0.43320	0.702	0.93195	D	0.846	0.94850	D	10	0.14179578	0.26939	T	0.049142	0.63685	D	0.582	0.83193	.	.	0.878594844158	0.87740	0.3809208872523269	0.38007	0.361251029565	0.37780	0.331634283066	0.15181	T	0.315472	0.68708	T	-0.133025	0.31008	T	-0.0366622	0.67926	D	0.0441607442788288	0.04450	T	0.760024	0.38453	T	0.47060472	0.65327	0.43482643	0.66989	0.47060472	0.65327	0.43482643	0.66989	-6.297	0.48698	T	.	.	0.097	0.15966	B	.;.	.;.	3.089495	0.41597	21.4	0.95360912203456516	0.26758	0.81620	0.40987	D	AEFI	0.338352	0.43585	N	0.0425245702060478	0.43798	2.665864	0.0817568729796907	0.43632	2.660933	8.20106826295543E-4	0.07857	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.67	3.45	0.38602	2.886000	0.48276	2.701000	0.34161	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.451000	0.27917	0.0:0.0:0.1981:0.8019	8.451	0.32032	791	0.46100	DNA-directed DNA polymerase, family A, palm domain|DNA-directed DNA polymerase, family A, palm domain;DNA-directed DNA polymerase, family A, palm domain|DNA-directed DNA polymerase, family A, palm domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	476.98	34	chr4	2129194	.	T	C	476.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.04;DP=772;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.95;ReadPosRankSum=0.230;SOR=0.728	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,103,1191	20	0	1	0
chr4	2208153	2208153	C	A	exonic	POLN	.	nonsynonymous SNV	POLN:NM_181808:exon5:c.G548T:p.G183V,	.	.	439	1076	7	0	0	7	0.00324224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.002	B	0.004	B	0.037	N	1.000	N	0	N	3.67	T	-0.958	T	0.009	T	0.192	1.178	9.791	1.55	-0.039	-0.018	4.525	0.011	0.00486440235815	0.0002	0.000399361	0.0005	0	0.0004	0	0	0.0007	0.0022	0.0003	0.0004851	75	154602	rs145476355	0.0003	0.0003	0.0003	0.0004	0.0061	0.0003	0.0003	0.0045	0.0039	0.0005	0.0004	0.0055	0	0	0.0061	0.0002	0.0005	0.0004	0.0004	0.0004	0.0004	0.0003	0.0004	0.0003	0.0003	0.0002	0.0002	7.218e-05	0	0.0004	0.0055	0	0	0.0136	0.0003	0.0005	0.0004	0.022	0.48642	D	0.224	0.25591	T	0.002	0.09854	B	0.002	0.06944	B	0.037286	0.01831	N	1.961470	1	0.08975	N	0	0.06538	N	3.67	0.04188	T	0.28	0.04233	N	0.109	0.09490	-0.9578	0.39589	T	0.009	0.03403	T	10	0.0064322352	0.00146	T	0.004864	0.12192	T	0.011	0.01250	.	.	0.213573922156	0.20996	0.2078983465201546	0.20705	0.0941472671673	0.10632	0.219302907586	0.01270	T	0.001787	0.01205	T	-0.5354	0.00357	T	-0.666293	0.07848	T	0.0106703783804796	0.00150	T	0.304969	0.05824	T	0.047347385	0.08078	0.062223263	0.12138	0.047347385	0.08078	0.062223263	0.12138	-3.459	0.15863	T	.	.	0.076	0.07272	B	.;.	.;.	0.380614	0.07526	4.173	0.84431217527668567	0.15288	0.01763	0.05540	N	AEFI	0.060293	0.11448	N	-1.21011174215368	0.04852	0.2198662	-1.18068658858636	0.06232	0.2993641	1.23107835998426E-4	0.05386	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.27	1.55	0.22356	0.035000	0.13685	0.858000	0.22201	-0.229000	0.07765	0.001000	0.13787	0.230000	0.23777	0.058000	0.15825	0.0819:0.3097:0.4678:0.1406	4.525	0.11382	618	0.66225	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	905.98	34	chr4	2208153	.	C	A	905.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=790;ExcessHet=0.0000;FS=0.843;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=-2.290e-01;SOR=0.651	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1061	20	0	1	0
chr4	2304695	2304695	G	A	exonic	ZFYVE28	.	nonsynonymous SNV	ZFYVE28:NM_001172656:exon7:c.C1555T:p.P519S	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.002	B	0.132	N	1.000	D	-1.155	N	0.52	T	-0.929	T	0.036	T	0.056	-0.021	3.906	-7.02	-1.634	0.061	3.471	0.108	0.0318257990511	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1173469192	9.587e-06	9.577e-06	1.499e-05	4.13e-06	1.16e-05	5.56e-06	4.35e-06	5.76e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.483	0.11795	T	0.001	0.12183	B	0.001	0.06944	B	0.131522	0.02812	N	1.787970	1	0.08975	N	-1.795	0.00292	N	0.49	0.55775	T	-1.22	0.30964	N	0.045	0.01740	-0.9291	0.44270	T	0.036	0.15334	T	10	0.018920451	0.00416	T	0.031826	0.53814	D	0.108	0.30607	0.083	0.00760	0.158540857583	0.15491	0.22120886381997534	0.22035	0.0446812176792	0.04828	0.238459214568	0.02653	T	0.003428	0.02839	T	-0.310239	0.07727	T	-0.683413	0.06777	T	0.0761929930526001	0.09493	T	0.654235	0.26451	T	0.021792248	0.00802	0.041105717	0.04597	0.021792248	0.00802	0.041105717	0.04597	-3.303	0.14285	T	.	.	0.057	0.05360	B	.;.;.	.;.;.	-0.894172	0.00935	0.036	0.90709433690000707	0.19960	0.02981	0.07832	N	AEFBI	0.062020	0.11895	N	-1.63602413402654	0.01095	0.04753957	-1.63931461358868	0.01432	0.06475107	0.998889715486014	0.37891	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.01	-7.02	0.01433	-0.031000	0.12237	-0.227000	0.10711	-0.169000	0.11342	0.002000	0.15269	0.000000	0.08366	0.046000	0.14843	0.5852:0.107:0.102:0.2058	3.471	0.07132	862	0.33134	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1641.98	37	chr4	2304695	.	G	A	1641.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.994;DP=1265;ExcessHet=0.0000;FS=4.145;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=-1.414e+00;SOR=0.490	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr4	2305231	2305231	G	A	exonic	ZFYVE28	.	nonsynonymous SNV	ZFYVE28:NM_001172656:exon7:c.C1019T:p.A340V	.	.	406	1106	10	0	0	10	0.00450045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.997	D	0.000	D	1.000	D	2.095	M	-0.19	T	-0.053	T	0.480	T	0.539	3.681	18.70	5.56	2.634	8.870	18.555	0.308	0.222669102875	.	0.00119808	0.0009	0	0	0	0	7.816e-05	0.0035	0.0061	0.0007309	113	154602	rs573489493	0.0004	0.0004	0.0002	0.0006	0.0058	0.0004	0.0004	0.0054	0.0052	5.982e-05	0	3.836e-05	0	0	0.0014	5.493e-05	0.0003	0.0058	0.0003	0.0003	0.0002	0.0004	0.0070	0.0002	0.0002	0.0052	0.0045	2.404e-05	0	6.53e-05	0.0006	0	0	0	0.0001	0	0.0070	0.0	0.91255	D	0.153	0.39040	T	1.0	0.90584	D	0.997	0.86255	D	0.000020	0.62929	D	0.155307	1	0.81001	D	0.975	0.24501	L	-0.19	0.66652	T	-2.64	0.56630	D	0.534	0.65416	-0.0530	0.81143	T	0.480	0.80134	T	10	0.0087275505	0.00198	T	0.222669	0.87865	D	0.308	0.62947	.	.	0.301078425253	0.29709	0.5189431871291065	0.51817	0.275773141277	0.30057	0.812836289406	0.83927	D	0.136232	0.46849	T	-0.273606	0.11358	T	-0.163458	0.58039	T	0.0984204919618052	0.12183	T	0.940606	0.77652	D	0.47369534	0.65517	0.42079395	0.66031	0.47369534	0.65518	0.42079395	0.66032	-4.864	0.35328	T	.	.	0.254	0.55781	B	.;.;.	.;.;.	3.687881	0.52528	23.2	0.99911936320710293	0.98095	0.99405	0.95607	D	AEFDBI	0.922223	0.89687	D	0.534735445931743	0.69160	5.317517	0.422768040461784	0.62987	4.523736	0.999999999998593	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.56	5.56	0.83678	6.051000	0.70697	8.310000	0.76945	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.016000	0.10718	0.0:0.0:1.0:0.0	18.555	0.91032	862	0.33134	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1421.98	37	chr4	2305231	.	G	A	1421.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.510e-01;DP=1170;ExcessHet=0.0000;FS=2.814;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.63;ReadPosRankSum=0.377;SOR=0.791	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr4	2596279	2596279	C	T	exonic	FAM193A	.	nonsynonymous SNV	FAM193A:NM_001366316:exon2:c.C280T:p.R94C	.	.	482	1039	1	0	0	1	0.000481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0019	0	0	0	0	0.0008	0	0.0026	0.0004722	73	154602	rs565661033	0.0018	0.0016	0.0019	0.0018	0.0026	0.0018	0.0017	0.0024	0.0024	0.0005	0.0003	9.985e-05	0	0.0009	0	0.0026	0.0015	0.0016	0.0014	0.0014	0.0015	0.0013	0.0023	0.0012	0.0012	0.0020	0.0019	0.0004	0.0121	0.0005	0	0	0.0008	0.0034	0.0023	0.0024	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012891263	0.00275	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.824508428574	0.85721	D	.	.	.	.	.	.	.	.	.	.	.	.	0.957071	0.83814	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.60988	A	.	.	5.045990	0.84013	28.2	0.84919650053503104	0.15576	0.96794	0.70974	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999998611077249	0.74766	0.156188	0.03335	0	0.082207	0.02014	0	0.090035	0.02915	2	0.221052	0.04502	0	0.279683	0.34040	5.59	4.74	0.59717	1.970000	0.40144	2.091000	0.30548	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.2722:0.7278:0.0:0.0	14.098	0.64564	652	0.62785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	80.06	16	chr4	2596279	.	C	T	80.06	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.64;DP=218;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0298;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.01;ReadPosRankSum=0.210;SOR=0.223	GT:AD:DP:GQ:PL	0/1:7,3:10:94:94,0,211	20	0	1	0
chr4	2662992	2662992	G	C	splicing	FAM193A	NM_001366316:exon11:c.1728+1G>C;NM_001366318:exon11:c.1899+1G>C;NM_001256666:exon9:c.1026+1G>C;NM_001256667:exon10:c.1092+1G>C;NM_003704:exon9:c.1026+1G>C;NM_001256668:exon9:c.1026+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.076	16.27	5.94	2.820	8.776	19.362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.192e-06	0.0001	4.102e-06	8.307e-06	8.147e-06	2.91e-06	2.11e-06	3.83e-06	2.78e-06	0	0	0	0	0	0	8.147e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278694	0.81204	D	0.162548	0.80963	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.228451	0.87761	29.4	0.99446033122521582	0.65021	0.97690	0.76437	D	AEFBCI	.	.	.	1.17962989754767	0.99342	22.03292	1.0229923532359	0.99025	20.32474	0.999999999999954	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.128073	0.03558	0	0.087121	0.02386	0	0.975606	0.78585	5.94	5.94	0.96165	8.898000	0.92168	11.640000	0.93781	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.585000	0.31016	0.0:0.0:1.0:0.0	19.362	0.94432	624	0.65661	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	531.26	142	chr4	2662992	.	G	C	531.26	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-3.826e+00;DP=2064;ExcessHet=1.7912;FS=200.882;InbreedingCoeff=-0.2447;MLEAC=7;MLEAF=0.206;MQ=60.00;MQRankSum=0.00;QD=0.77;ReadPosRankSum=0.827;SOR=11.598	GT:AD:DP:GQ:PL	0/0:104,28:132:52:0,52,2055	11	0	6	4
chr4	2693858	2693858	C	T	exonic	FAM193A	.	nonsynonymous SNV	FAM193A:NM_001256666:exon14:c.C2203T:p.P735S	.	.	433	1066	22	1	0	24	0.0111317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.999	D	0.859	P	0.000	D	1.000	D	1.59	L	-0.49	T	-0.506	T	0.327	T	0.522	3.825	19.43	5.59	2.619	4.225	16.740	0.198	0.0678277264793	0.0008	0.000798722	0.0013	0.0002	0.0016	0.0001	0	0.0018	0.0057	0.0006	0.0012031	186	154602	rs139214890	0.0011	0.0011	0.0010	0.0011	0.0208	0.0010	0.0010	0.0178	0.0166	0.0006	0.0019	0.0005	7.559e-05	0.0003	0.0208	0.0010	0.0019	0.0007	0.0013	0.0013	0.0012	0.0013	0.0018	0.0011	0.0011	0.0015	0.0014	0.0004	0	0.0017	0.0009	0	0.0008	0.0306	0.0018	0.0024	0.0008	0.049	0.49117	D	0.205	0.35205	T	0.999	0.77913	D	0.859	0.61184	P	0.000116	0.50451	D	0.135564	0.999867	0.50061	D	2.42	0.70002	M	-0.49	0.70365	T	-1.58	0.50830	N	0.59	0.63204	-0.5063	0.68421	T	0.327	0.69495	T	10	0.018695384	0.00409	T	0.067828	0.70279	D	0.198	0.48105	.	.	0.198222871337	0.19423	0.3136851748176364	0.31281	0.688528760148	0.60443	0.617394924164	0.55361	T	0.018791	0.23537	T	-0.279349	0.10735	T	-0.180826	0.56447	T	0.0403142075760497	0.03747	T	0.928807	0.80429	D	0.06190003	0.12868	0.10532623	0.25316	0.06190003	0.12868	0.10532623	0.25315	-7.022	0.54724	T	.	.	0.134	0.33063	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.217311	0.63767	24.6	0.99918345789017771	0.98586	0.89684	0.50307	D	AEFDBHCI	0.482098	0.52311	N	0.550391955460599	0.70105	5.453044	0.570903561061429	0.72864	5.877395	0.99999709983949	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.59	5.59	0.84677	4.316000	0.58970	5.917000	0.51107	0.594000	0.32500	0.999000	0.42656	1.000000	0.68203	0.943000	0.48514	0.0:1.0:0.0:0.0	16.740	0.85318	628	0.65206	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1137.98	34	chr4	2693858	.	C	T	1137.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.33;DP=776;ExcessHet=0.0000;FS=3.093;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.39;ReadPosRankSum=0.862;SOR=1.064	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1267	20	0	1	0
chr4	2696483	2696483	G	A	exonic	FAM193A	.	nonsynonymous SNV	FAM193A:NM_001256666:exon16:c.G2524A:p.V842I	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.153	B	0.017	B	0.000	D	1.000	D	1.59	L	1.73	T	-1.075	T	0.082	T	0.091	2.674	14.90	4.42	1.225	7.189	12.719	0.039	0.00839883582262	.	.	2.472e-05	0	0	0	0	4.496e-05	0	0	1.94e-05	3	154602	rs758641625	2.326e-05	2.326e-05	2.178e-05	2.475e-05	4.472e-05	1.674e-05	1.477e-05	1.83e-05	1.582e-05	2.987e-05	4.472e-05	0	0	1.872e-05	0	2.608e-05	0	1.159e-05	3.285e-05	3.283e-05	2.569e-05	4.034e-05	0.0001	1.261e-05	7.98e-06	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	2.94e-05	0.0005	0	0.059	0.41364	T	0.196	0.29843	T	0.066	0.28093	B	0.017	0.18140	B	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.935	0.51832	L	1.32	0.35590	T	-0.72	0.20358	N	0.306	0.38541	-1.0748	0.08390	T	0.082	0.32148	T	10	0.13361701	0.25430	T	0.008399	0.22231	T	0.039	0.10176	0.23	0.15705	0.0675242888579	0.06100	0.2853525383445503	0.28448	1.07010202158	0.76782	0.449056863785	0.31815	T	0.015864	0.19191	T	-0.324509	0.06535	T	-0.518008	0.20497	T	0.228325967701328	0.21872	T	0.794021	0.43594	T	0.09696867	0.22850	0.080216736	0.18127	0.09696867	0.22850	0.080216736	0.18127	-7.863	0.60838	D	.	.	0.091	0.13221	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.901048	0.38450	20.7	0.99163263419850356	0.54155	0.91682	0.54040	D	ALL	0.778285	0.71083	D	-0.168476162308607	0.34452	1.966605	-0.0985241867208637	0.35452	2.051217	1.0	0.98316	0.706548	0.73137	0	0.52208	0.09955	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	4.42	0.52775	7.304000	0.78201	5.841000	0.50249	0.649000	0.52879	1.000000	0.71638	1.000000	0.68203	0.922000	0.45779	0.0792:0.0:0.9207:0.0	12.719	0.56503	628	0.65206	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1518.98	34	chr4	2696483	.	G	A	1518.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=0.451;SOR=0.723	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1177	20	0	1	0
chr4	2822952	2822952	A	G	exonic	SH3BP2	.	nonsynonymous SNV	SH3BP2:NM_001122681:exon3:c.A154G:p.I52V	Cherubism, Autosomal dominant	.	0	1515	7	0	0	7	0.00230491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.009	B	0.032	B	0.000	N	0.988	D	-0.02	N	3.29	T	-0.921	T	0.009	T	0.286	2.271	13.55	3.04	0.510	6.497	9.192	0.099	0.0120964230425	.	.	1.696e-05	0	8.909e-05	0	0	1.529e-05	0	0	1.29e-05	2	154602	rs757132275	5.473e-06	5.472e-06	2.723e-06	8.251e-06	0.0002	2.35e-06	1.7e-06	1.32e-06	9.6e-07	2.987e-05	2.236e-05	0	0	0	0.0002	4.497e-06	0	0	6.577e-06	6.568e-06	0	1.347e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.142	0.27544	T	0.06	0.50514	T	0.002	0.09854	B	0.011	0.15521	B	0.000002	0.62929	N	0.057699	0.988473	0.40770	D	0.09	0.08384	N	3.29	0.06445	T	-0.23	0.14782	N	0.342	0.39962	-0.9213	0.45376	T	0.009	0.03315	T	10	0.15025672	0.28422	T	0.012096	0.30367	T	0.099	0.28413	0.428	0.47515	0.48087575253	0.47718	.	.	0.137031374961	0.15456	0.519187808037	0.41512	T	0.258743	0.62993	T	-0.239157	0.15456	T	-0.498443	0.22508	T	0.327389299869537	0.26120	T	0.833117	0.51562	T	0.046104364	0.07661	0.062299185	0.12166	0.046104364	0.07660	0.062299185	0.12166	-2.982	0.21523	T	0.25122325436606685	0.33997	0.077	0.08754	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.454497	0.31607	18.79	0.98893251830068862	0.48037	0.96065	0.67374	D	AEFBI	0.841402	0.75860	D	-0.437821390363016	0.24155	1.302272	-0.244690951949038	0.29954	1.682486	0.999942724305003	0.47345	0.719381	0.83141	0	0.702456	0.74545	0	0.723109	0.80598	0	0.733575	0.97253	0	.	.	4.24	3.04	0.34171	6.773000	0.74802	3.380000	0.37995	0.686000	0.82685	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.9102:0.0:0.0898:0.0	9.192	0.36368	745	0.52414	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1302.98	35	chr4	2822952	.	A	G	1302.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.270e+00;DP=835;ExcessHet=0.0000;FS=4.447;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.95;ReadPosRankSum=-2.058e+00;SOR=0.945	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1206	20	0	1	0
chr4	2827265	2827265	C	T	exonic	SH3BP2	.	nonsynonymous SNV	SH3BP2:NM_001122681:exon6:c.C464T:p.A155V	Cherubism, Autosomal dominant	.	0	1501	21	0	0	21	0.00694674	.	.	298178	Fibrous_dysplasia_of_jaw|not_specified|not_provided	MONDO:MONDO:0007315,MedGen:C0008029,OMIM:118400,Orphanet:184|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.998	D	0.994	D	0.006	N	1.000	D	1.79	L	2.09	T	-0.145	T	0.413	T	0.184	2.793	15.30	4.09	1.091	2.734	11.931	0.092	.	0.0056	0.00399361	0.0056	0.0012	0.0024	0	0.0011	0.0088	0.0022	0.0029	0.0055497	858	154602	rs35313240	0.0070	0.0070	0.0071	0.0070	0.0142	0.0069	0.0069	0.0117	0.0108	0.0014	0.0030	0.0051	0	0.0011	0.0142	0.0083	0.0064	0.0025	0.0044	0.0044	0.0049	0.0040	0.0075	0.0041	0.0040	0.0070	0.0068	0.0013	0	0.0031	0.0049	0	0.0012	0.0034	0.0075	0.0066	0.0027	0.009	0.59928	D	0.183	0.51737	T	0.457	0.36287	P	0.223	0.37929	B	0.006187	0.32207	N	0.333978	0.568238	0.32271	D	1.935	0.51832	L	-1.28	0.79571	T	-2.03	0.47514	N	0.215	0.28381	-0.1450	0.79041	T	0.413	0.76074	T	10	0.006905973	0.00157	T	.	.	.	0.092	0.26621	.	.	0.902085970072	0.90110	.	.	0.182245956989	0.20488	0.39841324091	0.24847	T	0.368239	0.73317	T	-0.368846	0.03652	T	-0.294637	0.45289	T	0.0107835674924491	0.00153	T	0.968303	0.89432	D	0.06393285	0.13513	0.09659818	0.22959	0.07389554	0.16544	0.101601526	0.24326	-8.227	0.66771	D	0.12766259741121452	0.13107	0.094	0.18539	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.888414	0.38249	20.7	0.99824003079150081	0.90677	0.85164	0.44274	D	AEFBCI	0.384671	0.46571	N	-0.0690292221457046	0.38758	2.274867	-0.136070640989203	0.33949	1.947432	0.999921016605919	0.46280	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.94	4.09	0.47038	3.252000	0.51162	2.611000	0.33577	0.535000	0.24933	0.868000	0.30757	0.992000	0.31684	0.364000	0.25977	0.0:0.9138:0.0:0.0862	11.931	0.52133	740	0.53092	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1027.98	34	chr4	2827265	.	C	T	1027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.030e-01;DP=900;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.79;ReadPosRankSum=0.968;SOR=0.732	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,106,1555	20	0	1	0
chr4	2908581	2908581	G	A	exonic	ADD1	.	nonsynonymous SNV	ADD1:NM_001119:exon12:c.G1582A:p.V528M	.	.	420	1091	10	1	0	12	0.00546946	.	.	720947	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.997	D	0.000	N	1.000	D	2.125	M	1.94	T	-1.092	T	0.085	T	0.136	3.320	17.16	3.18	0.365	3.072	8.874	0.089	.	0.0065	0.0061901	0.0038	0.0103	0.0021	0	0.0003	0.0037	0.0044	0.0050	0.003661	566	154602	rs146536048	0.0030	0.0030	0.0029	0.0030	0.0112	0.0029	0.0029	0.0103	0.0099	0.0112	0.0026	0.0003	0	0.0005	0.0092	0.0028	0.0040	0.0049	0.0048	0.0048	0.0049	0.0048	0.0108	0.0045	0.0044	0.0099	0.0096	0.0108	0	0.0042	0.0003	0.0002	0.0004	0.0136	0.0027	0.0038	0.0037	0.073	0.34982	T	0.096	0.53072	T	0.2	0.68779	B	0.094	0.73820	B	0.000050	0.53742	N	0.163531	0.999976	0.53665	D	1.935	0.51832	L	1.94	0.22678	T	-1.02	0.53577	N	0.129	0.15469	-1.0920	0.05207	T	0.085	0.33099	T	10	0.008142978	0.00185	T	.	.	.	0.089	0.25827	.	.	0.572330523689	0.56900	0.31456091621226157	0.31369	0.413558589206	0.42056	0.579176902771	0.49969	T	0.033772	0.78911	T	-0.546135	0.00308	T	-0.546874	0.17627	T	0.0272561461115573	0.01580	T	0.906109	0.66926	D	0.04028646	0.05722	0.06579984	0.13387	0.04028646	0.05722	0.06579984	0.13386	-5.416	0.58276	T	0.17262431964768926	0.21827	0.074	0.44885	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.765689	0.22456	15.63	0.99659472759474665	0.77820	0.97963	0.78469	D	AEFBI	0.492124	0.52889	N	0.152081181517446	0.48911	3.097578	0.19337981832247	0.49482	3.150952	0.99683286330942	0.35047	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.91	3.18	0.35615	3.222000	0.50925	1.268000	0.25273	0.676000	0.76740	1.000000	0.71638	0.696000	0.26205	1.000000	0.97212	0.1372:0.1239:0.7389:0.0	8.874	0.34493	581	0.69614	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2796.11	98	chr4	2908581	.	G	A	2796.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.34;DP=866;ExcessHet=0.1072;FS=1.077;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.64;ReadPosRankSum=0.772;SOR=0.781	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1256	19	0	2	0
chr4	2928309	2928309	C	G	exonic	ADD1	.	nonsynonymous SNV	ADD1:NM_001119:exon15:c.C2000G:p.P667R	.	.	411	1110	1	0	0	1	0.000450248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.009	B	0.022	B	0.862	N	1.000	N	0	N	3.58	T	-0.922	T	0.009	T	0.196	-0.462	1.866	3.13	1.132	1.950	9.123	0.032	0.0135968238702	0.0002	.	0.0004	0	0	0	0	3.001e-05	0	0.0030	0.0003299	51	154602	rs371284874	0.0002	0.0002	9.529e-05	0.0003	0.0032	0.0002	0.0002	0.0029	0.0027	2.987e-05	0	0	0	0	0	1.169e-05	0.0002	0.0032	0.0002	0.0002	0.0001	0.0002	0.0040	0.0001	9.239e-05	0.0026	0.0022	2.407e-05	0	0	0	0	0	0	5.881e-05	0	0.0040	0.377	0.12109	T	0.442	0.13365	T	0.009	0.15093	B	0.022	0.19653	B	0.861705	0.08889	N	0.933189	1	0.08975	N	1.355	0.33814	L	3.57	0.04645	T	0.34	0.04233	N	0.197	0.21969	-0.9218	0.45307	T	0.009	0.03140	T	10	0.0047896504	0.00101	T	0.013597	0.33126	T	0.032	0.07718	.	.	0.161926535498	0.15789	0.10565043997215717	0.10495	0.241297701315	0.26655	0.349070340395	0.17785	T	0.171145	0.51916	T	-0.593645	0.00159	T	-0.62981	0.10430	T	0.0204978199015859	0.00749	T	0.626337	0.24237	T	0.015146667	0.00124	0.032485303	0.01991	0.015146667	0.00124	0.032485303	0.01990	-5.945	0.45816	T	.	.	0.075	0.05979	B	.;.	.;.	2.452853	0.31584	18.79	0.50342391645723783	0.04367	0.40727	0.26501	N	AEFDBI	0.250112	0.37021	N	-1.09737526691969	0.06691	0.3087528	-1.03510123399584	0.09019	0.4464846	0.996820225634412	0.35039	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.0	3.13	0.35090	1.986000	0.40299	1.577000	0.27452	-0.313000	0.06017	0.023000	0.19925	0.006000	0.19429	0.175000	0.21139	0.0:0.7484:0.0:0.2516	9.123	0.35958	609	0.67094	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2015.98	42	chr4	2928309	.	C	G	2015.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.153;DP=960;ExcessHet=0.0000;FS=2.765;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.52;ReadPosRankSum=1.11;SOR=0.514	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,102,1530	20	0	1	0
chr4	2931463	2931463	G	A	exonic	MFSD10	.	nonsynonymous SNV	MFSD10:NM_001363679:exon9:c.C917T:p.P306L,	.	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.012	B	0.027	B	.	.	1.000	D	.	.	0.69	T	-1.016	T	0.069	T	.	0.821	8.305	3.09	0.582	0.341	4.180	0.030	0.00941737385725	0.0002	.	0.0009	0	0.0013	0	0	0.0008	0	0.0015	0.0002652	41	154602	rs376864708	0.0003	0.0003	0.0003	0.0003	0.0016	0.0003	0.0003	0.0008	0.0008	6.195e-05	0.0002	0	0	0	0.0016	0.0003	0.0005	0.0010	0.0001	0.0001	0.0001	0.0001	0.0002	7.086e-05	5.743e-05	0.0001	9.9e-05	0	0	0	0	0	0	0.0034	0.0002	0.0005	0.0002	0.244	0.17468	T	0.255	0.23365	T	0.012	0.16265	B	0.027	0.21085	B	.	.	.	.	0.616782	0.81001	D	.	.	.	0.69	0.51714	T	2.06	0.00379	N	0.348	0.38950	-1.0158	0.25078	T	0.069	0.28180	T	8	0.025450379	0.00739	T	0.009417	0.24693	T	0.030	0.07022	.	.	0.378322506985	0.37446	.	.	.	.	.	.	.	0.104746	0.41459	T	-0.332062	0.05957	T	-0.300201	0.44703	T	0.0234668268359589	0.01079	T	0.509649	0.16214	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.22098	B	.	.	1.060873	0.14425	11.00	0.94479724319400959	0.24934	0.67338	0.33397	D	AEFDBCI	0.090740	0.18385	N	-0.093152188924336	0.37692	2.196594	-0.168484838900721	0.32704	1.863232	0.999995433595738	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	3.99	3.09	0.34677	0.550000	0.23052	2.065000	0.30414	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.686000	0.33718	0.1783:0.0:0.4843:0.3374	4.180	0.09830	609	0.67094	Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	814.98	42	chr4	2931463	.	G	A	814.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.68;DP=788;ExcessHet=0.0000;FS=1.264;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.90;ReadPosRankSum=-7.360e-01;SOR=0.766	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1353	20	0	1	0
chr4	2932391	2932391	A	G	exonic	MFSD10	.	nonsynonymous SNV	MFSD10:NM_001120:exon5:c.T653C:p.I218T	.	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.237	B	0.292	B	0.000	D	1.000	D	1.735	L	0.36	T	-0.763	T	0.183	T	0.514	3.517	17.97	4.41	1.849	5.646	12.746	0.184	0.0299553150878	0.0015	0.000599042	0.0020	0.0004	0.0004	0	0.0004	0.0033	0.0012	0.0004	0.0020763	321	154602	rs146978897	0.0027	0.0027	0.0027	0.0027	0.0034	0.0027	0.0026	0.0033	0.0032	0.0006	0.0005	0.0003	0	0.0004	0.0010	0.0034	0.0022	0.0004	0.0019	0.0019	0.0019	0.0019	0.0031	0.0017	0.0017	0.0027	0.0026	0.0006	0.0537	0.0004	0	0	9.42e-05	0	0.0031	0.0005	0.0002	0.076	0.40832	T	0.013	0.63109	D	0.237	0.30795	B	0.292	0.40739	B	0.000214	0.47681	D	0.214007	0.999998	0.58761	D	1.65	0.42232	L	0.36	0.57880	T	-3.56	0.71639	D	0.662	0.70527	-0.7633	0.57226	T	0.183	0.53194	T	10	0.008955151	0.00203	T	0.029955	0.52367	D	0.184	0.45763	.	.	0.478905595755	0.47518	0.6563920335887649	0.65575	0.0398385821601	0.04256	0.419799029827	0.27808	T	0.41007	0.80565	T	-0.31173	0.07597	T	-0.216829	0.53041	T	0.0386092120555743	0.03441	T	0.924208	0.72277	D	0.47656068	0.65691	0.29334262	0.55362	0.47656068	0.65692	0.29334262	0.55362	-9.708	0.72145	D	.	.	0.496	0.64993	A	.;.;.;.;.	.;.;.;.;.	3.719165	0.53136	23.3	0.99560241288367479	0.71707	0.85847	0.45027	D	AEFDGBCIJ	0.919692	0.89057	D	0.113643044707078	0.47099	2.940394	0.212761846686038	0.50556	3.246299	0.999999999997214	0.74766	0.722319	0.85440	0	0.52208	0.09955	0	0.779548	0.98927	0	0.735409	0.98432	0	.	.	4.41	4.41	0.52588	7.162000	0.77088	7.864000	0.71599	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	1.0:0.0:0.0:0.0	12.746	0.56658	614	0.66605	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	869.98	78	chr4	2932391	.	A	G	869.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.480e-01;DP=799;ExcessHet=0.0000;FS=0.940;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=2.42;SOR=0.540	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1182	20	0	1	0
chr4	2932709	2932709	G	A	exonic	MFSD10	.	nonsynonymous SNV	MFSD10:NM_001120:exon4:c.C422T:p.A141V	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.437	B	0.165	B	0.013	N	1.000	N	0.61	N	-1.45	T	-0.938	T	0.209	T	0.273	2.609	14.69	1.87	0.397	1.116	2.158	0.130	0.022539371501	.	.	2.644e-05	9.968e-05	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs754994254	1.035e-05	1.368e-05	1.235e-05	8.326e-06	0.0003	6.21e-06	4.93e-06	6.133e-05	2.536e-05	0	2.315e-05	0	5.043e-05	0	0.0003	1.807e-06	3.342e-05	7.122e-05	6.573e-06	6.567e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.104	0.29959	T	0.165	0.30926	T	0.437	0.35811	B	0.163	0.35019	B	0.013306	0.28882	N	0.403070	0.999947	0.19238	N	1.39	0.34934	L	-1.45	0.80899	T	-1.5	0.39887	N	0.445	0.51940	-0.9384	0.42869	T	0.209	0.56826	T	10	0.11511102	0.21678	T	0.022539	0.45438	T	0.130	0.35528	.	.	0.376216005999	0.37235	0.43753453259029607	0.43670	0.0265829955864	0.02714	0.328746020794	0.14745	T	0.164284	0.54966	T	-0.168803	0.25415	T	-0.294978	0.45252	T	0.0368688552349653	0.03133	T	0.940506	0.77585	D	0.08562965	0.19871	0.06408031	0.12789	0.08562965	0.19870	0.06408031	0.12788	-10.407	0.76311	D	.	.	0.118	0.23986	B	.;.;.;.;.	.;.;.;.;.	2.286312	0.29238	18.06	0.99523778476790425	0.69407	0.15106	0.18747	N	AEFDBCIJ	0.314989	0.41969	N	-0.687225187867526	0.16385	0.8343098	-0.657210151278053	0.18034	0.9616542	0.999966334829895	0.48965	0.741868	0.97996	0	0.672317	0.65289	0	0.774882	0.98623	0	0.735409	0.98432	0	.	.	4.73	1.87	0.24559	1.670000	0.37118	2.542000	0.33220	-0.117000	0.14459	0.405000	0.26210	0.070000	0.22201	0.883000	0.42306	0.1021:0.2977:0.3421:0.2581	2.158	0.03585	614	0.66605	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	865.98	34	chr4	2932709	.	G	A	865.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.948e+00;DP=869;ExcessHet=0.0000;FS=5.962;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.31;ReadPosRankSum=2.11;SOR=0.282	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr4	2939269	2939269	C	A	exonic	NOP14	.	nonsynonymous SNV	NOP14:NM_001291978:exon17:c.G2393T:p.R798L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.975	D	0.000	D	1.000	D	3.07	M	1.28	T	-0.425	T	0.270	T	0.573	4.514	24.3	4.59	2.837	3.046	14.799	0.276	0.0370842099886	.	0.000399361	0.0001	0	0	0	0	0	0.0011	0.0008	0.00011	17	154602	rs148382749	6.363e-05	6.362e-05	3.676e-05	9.077e-05	0.0010	5.295e-05	4.911e-05	0.0009	0.0008	0	0	0	0	0	0	0	4.968e-05	0.0010	3.938e-05	3.937e-05	1.284e-05	6.71e-05	0.0012	1.714e-05	1.128e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.004	0.65419	D	0.006	0.70582	D	0.999	0.77913	D	0.975	0.73362	D	0.000011	0.62929	D	0.066852	0.999996	0.81001	D	3.625	0.93960	H	1.28	0.35960	T	-5.0	0.82341	D	0.705	0.70878	-0.4253	0.71219	T	0.270	0.64151	T	10	0.2474204	0.42022	T	0.037084	0.57399	D	0.276	0.59253	0.51	0.60693	0.596902567841	0.59370	0.4492451448772041	0.44842	0.477294101993	0.46845	0.623506903648	0.56225	T	0.142319	0.47785	T	-0.272317	0.11500	T	-0.236746	0.51116	T	0.975561082363129	0.70990	D	0.90391	0.66280	D	0.50196344	0.67210	0.44563764	0.67705	0.50196344	0.67211	0.44563764	0.67705	-11.441	0.82021	D	.	.	0.614	0.69501	P	.;.	.;.	4.912417	0.80831	27.4	0.99849896491152001	0.92925	0.94615	0.61745	D	AEFBCI	0.534674	0.55362	D	0.771482244969588	0.84294	8.248098	0.694119312694823	0.81933	7.643681	0.999999984494812	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.44	4.59	0.56297	3.754000	0.54903	4.770000	0.44768	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.989000	0.64315	0.0:0.9296:0.0:0.0704	14.799	0.69523	641	0.64016	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2506.98	35	chr4	2939269	.	C	A	2506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.81;DP=941;ExcessHet=0.0000;FS=0.504;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=1.20;SOR=0.622	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr4	2939339	2939339	C	T	exonic	NOP14	.	nonsynonymous SNV	NOP14:NM_001291978:exon17:c.G2323A:p.E775K	.	.	.	.	.	.	.	.	.	.	.	2337013	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.998	D	0.866	P	0.000	D	1.000	D	2.34	M	1.53	T	-0.760	T	0.169	T	0.389	4.531	24.4	4.61	1.537	6.620	14.340	0.208	0.0577518247276	.	.	0.0002	9.671e-05	0.0005	0	0	0.0002	0	0	0.0001746	27	154602	rs145832505	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	2.987e-05	0.0004	0.0021	0	0	0	0.0002	0.0003	1.159e-05	0.0001	0.0001	0.0002	0.0001	0.0004	9.739e-05	8.254e-05	0.0002	0.0001	2.406e-05	0	0.0004	0.0009	0	0	0	0.0002	0	0	0.014	0.53172	D	0.161	0.31326	T	0.998	0.73220	D	0.866	0.61580	P	0.000001	0.62929	D	0.056782	0.999946	0.81001	D	2.8	0.81625	M	1.53	0.30401	T	-2.49	0.54217	N	0.642	0.65416	-0.7598	0.57416	T	0.169	0.50842	T	10	0.30424243	0.47950	T	0.057752	0.67077	D	0.208	0.49714	.	.	0.647459595057	0.64453	0.3355958821632411	0.33472	0.443937874564	0.44312	0.670407116413	0.62896	T	0.016615	0.13699	T	-0.29483	0.09157	T	-0.327129	0.41789	T	0.40052729845047	0.28962	T	0.905909	0.66829	D	0.32739422	0.55257	0.26518616	0.52347	0.32739422	0.55257	0.26518616	0.52346	-9.118	0.68453	D	.	.	0.677	0.72018	P	.;.	.;.	4.435335	0.68814	25.3	0.99876810534798632	0.95328	0.98951	0.89073	D	AEFDGBCI	0.773365	0.70740	D	0.681310829378171	0.78408	6.865586	0.641515126506563	0.77982	6.785092	0.999999999983443	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.44	4.61	0.56724	6.524000	0.73700	7.536000	0.59999	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.732000	0.35165	0.0:0.9292:0.0:0.0708	14.340	0.66179	641	0.64016	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2102.98	35	chr4	2939339	.	C	T	2102.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.173;DP=901;ExcessHet=0.0000;FS=3.869;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.66;ReadPosRankSum=0.013;SOR=1.038	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr4	3004284	3004284	G	T	exonic	GRK4	.	nonsynonymous SNV	GRK4:NM_001004056:exon4:c.G297T:p.L99F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.679	P	0.446	B	0.625	U	1.000	N	1.7	L	4.53	T	-0.963	T	0.010	T	0.097	1.441	10.76	-0.17	0.019	0.047	4.116	0.037	0.00372910822303	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1438445075	6.842e-07	6.841e-07	0	1.375e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.45393	D	0.194	0.28120	T	0.004	0.41373	B	0.006	0.45959	B	0.624687	0.10744	U	0.774008	1	0.08975	N	2.14	0.59869	M	4.53	0.01980	T	-0.43	0.14390	N	0.079	0.16864	-0.9633	0.38547	T	0.010	0.03811	T	10	0.09915581	0.17975	T	0.003729	0.08651	T	0.037	0.09474	0.361	0.36548	0.564948366329	0.56158	0.16420081605497705	0.16340	0.160582675934	0.18125	0.220410421491	0.01334	T	0.142324	0.47785	T	-0.318087	0.07056	T	-0.694687	0.06121	T	0.0480153933167458	0.05146	T	0.275672	0.04719	T	0.3134006	0.54078	0.35175318	0.60764	0.3134006	0.54078	0.35175318	0.60764	-6.259	0.48603	T	.	.	0.096	0.15520	B	.;.;.;.	.;.;.;.	0.974226	0.13511	10.04	0.98065333725154946	0.37983	0.19918	0.20845	N	AEFDBIJ	0.106917	0.21317	N	-0.800636302531212	0.13294	0.6538818	-0.937112183391586	0.11224	0.5704404	0.0155694073131632	0.12729	0.516011	0.20929	0	0.59043	0.45803	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	4.65	-0.17	0.12681	0.422000	0.21016	1.275000	0.25315	-0.135000	0.12811	0.000000	0.06391	0.028000	0.21151	0.000000	0.00833	0.3298:0.3319:0.3384:0.0	4.116	0.09553	628	0.65206	.;RGS domain|RGS domain|RGS domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1152.98	35	chr4	3004284	.	G	T	1152.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.930e-01;DP=850;ExcessHet=0.0000;FS=1.582;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.98;ReadPosRankSum=-2.330e-01;SOR=0.847	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1138	20	0	1	0
chr4	3074882	3074882	-	CAGCAGCAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAGCAGCAG:p.Q38_P39insQQQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	3/4:0,0,0,20,19,0,0:39:99:.:.:1284,1341,1454,1341,1454,1454,659,751,751,760,698,759,759,0,741,1341,1454,1454,751,759,1454,1341,1454,1454,751,759,1454,1454	3	1	1	0
chr4	3074880	3074882	CAG	-	exonic	HTT	.	nonframeshift deletion	HTT:NM_002111:exon1:c.55_57del:p.Q38del,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	3/4:0,0,0,20,19,0,0:39:99:.:.:1284,1341,1454,1341,1454,1454,659,751,751,760,698,759,759,0,741,1341,1454,1454,751,759,1454,1341,1454,1454,751,759,1454,1454	3	1	1	0
chr4	3074882	3074882	-	CAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAG:p.Q38_P39insQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	3/4:0,0,0,20,19,0,0:39:99:.:.:1284,1341,1454,1341,1454,1454,659,751,751,760,698,759,759,0,741,1341,1454,1454,751,759,1454,1341,1454,1454,751,759,1454,1454	3	1	1	0
chr4	3074882	3074882	-	CAGCAGCAGCAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAGCAGCAGCAG:p.Q38_P39insQQQQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	3/4:0,0,0,20,19,0,0:39:99:.:.:1284,1341,1454,1341,1454,1454,659,751,751,760,698,759,759,0,741,1341,1454,1454,751,759,1454,1341,1454,1454,751,759,1454,1454	3	1	1	0
chr4	3074882	3074882	-	CAGCAGCAGCAGCAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAGCAGCAGCAGCAG:p.Q38_P39insQQQQQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	3/4:0,0,0,20,19,0,0:39:99:.:.:1284,1341,1454,1341,1454,1454,659,751,751,760,698,759,759,0,741,1341,1454,1454,751,759,1454,1341,1454,1454,751,759,1454,1454	3	1	1	0
chr4	3074909	3074910	GC	-	exonic	HTT	.	frameshift deletion	HTT:NM_002111:exon1:c.84_85del:p.Q29Afs*53,	Huntington disease, Autosomal dominant	.	3	1504	11	3	1	18	0.00561983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0	0	0.0003	0.0003074	8	26028	rs767553699	0.0013	0.0019	0.0012	0.0015	0.0037	0.0013	0.0013	0.0026	0.0025	0.0006	0.0015	0.0065	0	0.0008	0.0037	0.0011	0.0028	0.0029	0.0037	0.0039	0.0041	0.0034	0.0051	0.0035	0.0034	0.0046	0.0045	0.0015	0	0.0043	0.0109	0.0012	0.0011	0.0035	0.0051	0.0069	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	963.1	26	chr4	3074908	.	AGC	A	963.1	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-9.900e-01;DP=1061;ExcessHet=0.3300;FS=0.896;InbreedingCoeff=-0.0723;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.26;ReadPosRankSum=1.87;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,102,1530	18	0	3	0
chr4	3074912	3074927	GCAGCAGCAGCAGCAG	-	exonic	HTT	.	frameshift deletion	HTT:NM_002111:exon1:c.87_102del:p.Q29Hfs*67,	Huntington disease, Autosomal dominant	.	3	1503	11	3	2	19	0.00562355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0	0	0.0003	0.0003074	8	26028	rs760691860	0.0013	0.0019	0.0012	0.0014	0.0034	0.0013	0.0012	0.0026	0.0025	0.0005	0.0015	0.0064	0	0.0008	0.0034	0.0011	0.0025	0.0030	0.0036	0.0039	0.0040	0.0032	0.0050	0.0034	0.0033	0.0046	0.0044	0.0015	0	0.0041	0.0109	0.0010	0.0009	0.0035	0.0050	0.0064	0.0032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	963.1	26	chr4	3074911	.	AGCAGCAGCAGCAGCAG	A	963.1	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.455e+00;DP=1057;ExcessHet=0.3300;FS=0.896;InbreedingCoeff=-0.0723;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.26;ReadPosRankSum=1.78;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,102,1530	18	0	3	0
chr4	3074923	3074925	AGC	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	1002.47	26	chr4	3074923	.	AGC	A,*	1002.47	.	AC=2,3;AF=0.048,0.071;AN=42;BaseQRankSum=0.00;DP=1062;ExcessHet=1.1607;FS=3.015;InbreedingCoeff=-0.1290;MLEAC=2,2;MLEAF=0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=5.28;ReadPosRankSum=3.05;SOR=0.964	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0,0:43:99:.:.:0,102,1530,102,1530,1530	16	0	2	0
chr4	3074926	3074930	AGCAG	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	.	0	201	8	1	16	26	0.0242718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	996.46	26	chr4	3074926	.	AGCAG	A,ACAG,*	996.46	.	AC=1,1,3;AF=0.024,0.024,0.071;AN=42;BaseQRankSum=-1.289e+00;DP=1053;ExcessHet=1.1607;FS=3.015;InbreedingCoeff=-0.1290;MLEAC=1,1,2;MLEAF=0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=5.24;ReadPosRankSum=3.07;SOR=0.964	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0,0,0:43:99:.:.:0,102,1530,102,1530,1530,102,1530,1530,1530	16	0	1	0
chr4	3074927	3074927	G	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	.	4	1369	54	4	91	153	0.0221429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	957.88	16	chr4	3074927	.	G	GCAA,*	957.88	.	AC=3,5;AF=0.071,0.119;AN=42;BaseQRankSum=-8.410e-01;DP=1050;ExcessHet=0.5418;FS=3.188;InbreedingCoeff=0.0867;MLEAC=3,4;MLEAF=0.071,0.095;MQ=59.47;MQRankSum=2.60;QD=4.01;ReadPosRankSum=3.51;SOR=0.920	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0,0:43:99:.:.:0,102,1530,102,1530,1530	14	0	2	0
chr4	3130311	3130311	A	G	exonic	HTT	.	nonsynonymous SNV	HTT:NM_002111:exon14:c.A1874G:p.Q625R,	Huntington disease, Autosomal dominant	.	1	1492	26	3	0	32	0.0106101	.	.	1582210	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.002	B	0.003	B	0.000	D	0.572	N	1.61	L	3.5	T	-1.127	T	0.015	T	0.187	2.316	13.70	5.06	2.128	3.601	14.974	0.079	0.00307469766437	0.0060	0.00279553	0.0059	0.0009	0.0029	0	0.0006	0.0078	0.0080	0.0090	0.0056597	875	154602	rs151106561	0.0059	0.0059	0.0058	0.0060	0.0080	0.0058	0.0058	0.0071	0.0069	0.0010	0.0035	0.0182	2.569e-05	0.0010	0.0080	0.0061	0.0074	0.0076	0.0039	0.0039	0.0042	0.0036	0.0057	0.0036	0.0035	0.0053	0.0051	0.0010	0	0.0048	0.0118	0.0002	0.0010	0.0068	0.0057	0.0061	0.0044	0.327	0.13262	T	0.026	0.55759	D	0.002	0.09854	B	0.003	0.08700	B	0.000050	0.53742	D	0.167936	0.571816	0.31172	N	1.1	0.28011	L	3.5	0.05014	T	-1.11	0.28703	N	0.159	0.16586	-1.1266	0.01952	T	0.015	0.06282	T	10	0.0044893026	0.00092	T	0.003075	0.06636	T	0.079	0.23065	.	.	0.302481332339	0.29867	0.14526518922379095	0.14449	0.176767326265	0.19889	0.343192756176	0.16915	T	0.156359	0.49850	T	-0.569926	0.00222	T	-0.584897	0.14111	T	0.0155558761070371	0.00353	T	0.761424	0.52631	T	0.13567653	0.31481	0.16072819	0.37421	0.14039071	0.32392	0.16072819	0.37421	-3.741	0.19925	T	0.09116276268044496	0.05754	0.093	0.16582	B	.;.	.;.	1.891908	0.24027	16.24	0.99241762718833137	0.56565	0.91378	0.53413	D	AEFDBI	0.228202	0.35191	N	-0.0599764683322441	0.39158	2.304722	0.0926252157069326	0.44176	2.704542	0.999986357448469	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.617000	0.53923	2.734000	0.34411	0.756000	0.94297	0.998000	0.41325	0.929000	0.28499	0.997000	0.79791	1.0:0.0:0.0:0.0	14.974	0.70906	456	0.79013	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.07143	2557.68	73	chr4	3130311	.	A	G	2557.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.863e+00;DP=876;ExcessHet=0.3300;FS=3.717;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=-1.034e+00;SOR=0.482	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1202	18	0	3	0
chr4	3430503	3430503	G	A	exonic	RGS12	.	nonsynonymous SNV	RGS12:NM_198227:exon15:c.G1718A:p.R573H	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.891	P	0.287	B	0.000	D	1.000	D	2.33	M	1.09	T	-0.717	T	0.158	T	0.707	4.353	22.9	4.76	2.193	5.975	16.774	0.172	0.018911028987	.	.	8.263e-06	9.649e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs746987803	1.642e-05	1.642e-05	1.906e-05	1.375e-05	0.0001	1.111e-05	9.34e-06	5.849e-05	3.758e-05	0.0001	0	0	2.519e-05	0	0	1.169e-05	3.312e-05	3.478e-05	3.285e-05	3.283e-05	3.854e-05	2.69e-05	0.0001	1.261e-05	7.98e-06	4.739e-05	3.053e-05	0.0001	0	0	0	0	0	0	0	0	0	0.046	0.42199	D	0.071	0.46632	T	0.891	0.49025	P	0.15	0.36167	B	0.000004	0.62929	D	0.063289	0.999999	0.81001	D	2.295	0.65404	M	1.09	0.49358	T	-2.6	0.57599	D	0.369	0.44761	-0.7174	0.59590	T	0.158	0.49027	T	10	0.22675204	0.39538	T	0.018911	0.41124	T	0.172	0.43662	.	.	0.634262326541	0.63126	0.2943784048366297	0.29350	0.249637812395	0.27546	0.586432218552	0.50992	T	0.124795	0.45006	T	-0.0605727	0.42817	T	-0.143257	0.59834	T	0.868280053138733	0.51825	D	0.90141	0.65732	D	0.182916	0.39534	0.116366915	0.28092	0.182916	0.39534	0.116366915	0.28091	-7.161	0.58757	T	.	.	0.098	0.32469	B	.;.;.;.	.;.;.;.	4.478039	0.69836	25.4	0.99582082592530752	0.73040	0.98393	0.82318	D	AEFBI	0.709162	0.66334	D	0.227645082564665	0.52541	3.427774	0.194204833116932	0.49530	3.154977	0.999992908993909	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.76	4.76	0.60189	6.185000	0.71948	11.424000	0.92722	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:0.0:1.0:0.0	16.774	0.85408	830	0.39242	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1429.98	34	chr4	3430503	.	G	A	1429.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=803;ExcessHet=0.0000;FS=0.721;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=-7.860e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1152	20	0	1	0
chr4	3430742	3430742	A	T	exonic	RGS12	.	nonsynonymous SNV	RGS12:NM_198227:exon15:c.A1957T:p.T653S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.005	B	0.007	B	0.163	N	1.000	N	0.55	N	1.72	T	-1.031	T	0.037	T	0.052	0.316	5.714	-7.16	-1.860	-0.266	6.140	0.021	0.0113003704937	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	0.08813	T	0.934	0.03685	T	0.005	0.12996	B	0.005	0.11217	B	0.163333	0.03056	N	1.693160	1	0.08975	N	-0.205	0.04094	N	1.7	0.33189	T	0.02	0.08340	N	0.112	0.09914	-1.0311	0.20099	T	0.037	0.15813	T	10	0.03320551	0.01491	T	0.011	0.28784	T	0.021	0.04004	0.106	0.01810	0.181679512989	0.17746	0.10274242439557484	0.10204	0.160620575462	0.18125	0.446763634682	0.31502	T	0.020442	0.16093	T	-0.361833	0.04027	T	-0.757524	0.03202	T	0.0432695322914033	0.04288	T	0.424758	0.11367	T	0.03126138	0.02934	0.02145941	0.00196	0.03126138	0.02933	0.02145941	0.00196	-2.382	0.05024	T	.	.	0.069	0.06617	B	.;.;.;.	.;.;.;.	-0.430160	0.02102	0.198	0.62006987010516457	0.06853	0.02359	0.06724	N	AEFDBI	0.097285	0.19624	N	-1.49274623438003	0.01901	0.08340659	-1.61371898052021	0.01574	0.07136447	0.999640243170653	0.41316	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	3.58	-7.16	0.01364	-0.542000	0.06180	-2.265000	0.03977	0.740000	0.86194	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.2081:0.1027:0.5868:0.1024	6.140	0.19471	830	0.39242	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	582.98	34	chr4	3430742	.	A	T	582.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.618;DP=765;ExcessHet=0.0000;FS=1.054;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.00;ReadPosRankSum=1.26;SOR=0.806	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1152	20	0	1	0
chr4	3442889	3442889	C	G	exonic	HGFAC	.	nonsynonymous SNV	HGFAC:NM_001297439:exon2:c.C275G:p.S92W	.	.	422	1074	26	0	0	26	0.0119595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.947	P	0.367	B	0.860	U	1.000	N	0.695	N	-2.53	D	-0.527	T	0.424	T	0.408	0.588	7.172	-0.856	-0.283	0.550	2.897	0.368	0.298130451809	7.7e-05	0.00159744	0.0016	0	0.0019	0.0004	0	0.0004	0.0025	0.0098	0.0014489	224	154602	rs199767749	0.0008	0.0009	0.0006	0.0011	0.0090	0.0008	0.0008	0.0084	0.0082	6.48e-05	0.0011	4.251e-05	0.0001	0	0.0074	0.0003	0.0009	0.0090	0.0007	0.0007	0.0006	0.0008	0.0100	0.0006	0.0006	0.0077	0.0069	9.63e-05	0	0.0008	0	0	0	0.0068	0.0005	0.0043	0.0100	0.185	0.21550	T	0.015	0.61642	D	0.947	0.53479	P	0.367	0.43430	B	0.860091	0.08901	U	0.882545	0.999967	0.18878	N	0.805	0.20218	L	-2.55	0.89561	D	-0.33	0.12472	N	0.509	0.54059	-0.5275	0.67635	T	0.424	0.76816	T	10	0.005494565	0.00121	T	0.29813	0.90791	D	0.368	0.68757	.	.	0.504968073517	0.50134	0.43640903971464434	0.43557	0.210624317738	0.23558	0.569095015526	0.48549	T	0.047731	0.27809	T	-0.324838	0.06509	T	-0.234116	0.51373	T	0.0241400113216677	0.01163	T	0.649135	0.25986	T	0.033651676	0.03627	0.040767018	0.04483	0.033651676	0.03627	0.040767018	0.04482	-5.755	0.44180	T	.	.	0.134	0.40937	B	.;.	.;.	1.431416	0.18497	13.77	0.86557852664696322	0.16616	0.13757	0.18035	N	AEFDBHCI	0.441084	0.49938	N	-1.20330469427619	0.04951	0.2246092	-1.38654132267877	0.03394	0.158255	0.999998942615482	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	1.99	-0.856	0.10155	0.326000	0.19391	0.779000	0.21463	-1.329000	0.01219	0.001000	0.13787	0.000000	0.08366	0.013000	0.09966	0.0:0.4418:0.2409:0.3173	2.897	0.05343	862	0.33134	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1182.98	35	chr4	3442889	.	C	G	1182.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.000e-01;DP=928;ExcessHet=0.0000;FS=2.515;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=0.263;SOR=0.476	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,111,1665	20	0	1	0
chr4	3444042	3444057	CCCTGGATCCCTGTGC	-	exonic	HGFAC	.	frameshift deletion	HGFAC:NM_001297439:exon5:c.479_494del:p.L161Pfs*81	.	.	395	1072	55	0	0	55	0.0250114	.	.	2822368	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0037	0.0003	0.0019	0	0.0038	0.0038	0.0096	0.0094	0.0005379	14	26028	rs562047823	0.0024	0.0026	0.0020	0.0028	0.0232	0.0023	0.0023	0.0200	0.0187	0.0003	0.0024	0.0083	5.055e-05	0.0039	0.0232	0.0016	0.0042	0.0086	0.0023	0.0023	0.0020	0.0026	0.0081	0.0021	0.0021	0.0061	0.0054	0.0003	0	0.0046	0.0066	0	0.0042	0.0238	0.0022	0.0038	0.0081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	479.94	27	chr4	3444041	.	GCCCTGGATCCCTGTGC	G	479.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.611;DP=667;ExcessHet=0.0000;FS=5.946;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.14;ReadPosRankSum=-8.440e-01;SOR=1.942	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,960	20	0	1	0
chr4	3449399	3449399	C	T	exonic	HGFAC	.	nonsynonymous SNV	HGFAC:NM_001528:exon14:c.C1948T:p.R650W	.	.	367	1154	1	0	0	1	0.000433088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.93	D	0.150	N	1.000	N	0.205	N	-2.49	D	-0.382	T	0.559	D	0.319	2.577	14.58	2.01	0.990	0.485	5.057	0.291	0.121636242201	.	.	1.804e-05	0	0	0	0	3.178e-05	0	0	1.94e-05	3	154602	rs577434025	1.913e-05	2.257e-05	2.238e-05	1.579e-05	0.0002	1.31e-05	1.123e-05	1.122e-05	9.04e-06	6.283e-05	0	0	2.683e-05	0	0.0002	1.755e-05	3.448e-05	2.494e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	9.411e-05	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.929	0.66466	D	0.149986	0.18000	N	0.411149	1	0.08975	N	1.995	0.54099	M	-2.52	0.89363	D	-1.91	0.44471	N	0.312	0.35408	-0.3818	0.72595	T	0.559	0.83924	D	10	0.36144453	0.52764	T	0.121636	0.80244	D	0.291	0.61040	0.431	0.48007	0.883169510536	0.88202	0.6087004624561252	0.60802	0.284174339516	0.30844	0.395103514194	0.24386	T	0.252221	0.62257	T	-0.0584449	0.43150	T	-0.199184	0.54724	T	0.54727840423584	0.34375	D	0.632437	0.24680	T	0.095194824	0.22398	0.10236728	0.24533	0.095194824	0.22398	0.10236728	0.24533	-6.302	0.48738	T	.	.	0.144	0.31658	B	.;.	.;.	3.979676	0.58499	24.0	0.9964594220349875	0.76943	0.01194	0.04265	N	AEFDBI	0.466015	0.51384	N	-0.458687355735767	0.23447	1.259152	-0.615938302427897	0.19084	1.022342	0.173922126948433	0.17776	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	3.91	2.01	0.25568	0.632000	0.24273	0.274000	0.16691	-0.203000	0.08628	0.315000	0.25459	0.983000	0.30585	0.015000	0.10482	0.0:0.6675:0.214:0.1185	5.057	0.13878	873	0.30802	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1049.98	34	chr4	3449399	.	C	T	1049.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.297;DP=877;ExcessHet=0.0000;FS=3.316;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.20;ReadPosRankSum=-1.520e+00;SOR=0.507	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1388	20	0	1	0
chr4	3473439	3473439	C	T	exonic	DOK7	.	nonsynonymous SNV	DOK7:NM_001164673:exon3:c.C134T:p.S45L	Myasthenic syndrome, congenital, 10, Autosomal recessive	.	0	1501	20	1	0	22	0.00727513	.	.	193758	not_provided|Fetal_akinesia_deformation_sequence_1|not_specified|Congenital_myasthenic_syndrome_10	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994|MedGen:CN169374|MONDO:MONDO:0009690,MedGen:C1850792,OMIM:254300,Orphanet:590	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.44	T	0.382	B	0.064	B	0.204	N	1.000	N	1.43	L	-0.89	T	-0.958	T	0.187	T	0.323	1.485	10.91	2.82	0.727	1.561	11.748	0.175	0.0624901798016	0.0053	0.00199681	0.0052	0.0022	0.0014	0.0020	0.0006	0.0076	0.0046	0.0039	0.0050323	778	154602	rs62272670	0.0055	0.0055	0.0055	0.0055	0.0050	0.0054	0.0053	0.0049	0.0048	0.0017	0.0013	0.0503	0.0014	0.0012	0.0041	0.0050	0.0076	0.0050	0.0046	0.0046	0.0049	0.0044	0.0052	0.0044	0.0042	0.0048	0.0046	0.0020	0.0526	0.0008	0.0461	0.0031	0.0008	0	0.0052	0.0043	0.0031	0.668	0.05325	T	0.042	0.50226	D	0.382	0.34403	B	0.064	0.27215	B	0.204107	0.16526	N	0.579443	1	0.08975	N	1.5	0.37844	L	-0.89	0.74793	T	-3.6	0.69357	D	0.538	0.74371	-0.9580	0.39552	T	0.187	0.53691	T	10	0.0065547824	0.00149	T	0.06249	0.68670	D	0.175	0.44197	.	.	0.78300725631	0.78100	0.23450212601361356	0.23365	0.00535340168782	0.00472	0.495576709509	0.38211	T	0.433107	0.78065	T	-0.411266	0.01950	T	-0.358405	0.38238	T	0.0303045756909654	0.02036	T	0.865113	0.56350	D	0.115241185	0.27197	0.18905671	0.42231	0.110617764	0.26144	0.21030135	0.45410	-10.065	0.76680	D	0.5248874870876927	0.59660	0.114	0.22537	B	.;.	.;.	2.934284	0.38996	20.9	0.98852417109926549	0.47322	0.26343	0.22966	N	AEFDBIJ	0.172434	0.29947	N	-0.595213771903651	0.19089	0.9963593	-0.625632798723542	0.18835	1.007964	0.925807394480531	0.26828	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	3.7	2.82	0.32061	0.707000	0.25379	2.745000	0.34492	0.537000	0.25018	0.000000	0.06391	0.040000	0.21562	0.630000	0.32157	0.0:0.8124:0.1876:0.0	11.748	0.51097	889	0.27310	.;Pleckstrin homology domain|Pleckstrin homology domain|Dok-7, PH domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.04762	2191.11	61	chr4	3473439	.	C	T	2191.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.83;DP=848;ExcessHet=0.1072;FS=8.124;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.99;ReadPosRankSum=-6.860e-01;SOR=1.339	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,971	19	0	2	0
chr4	3500319	3500319	G	A	exonic	DOK7	.	nonsynonymous SNV	DOK7:NM_001363811:exon7:c.G1177A:p.V393M	Myasthenic syndrome, congenital, 10, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.847	P	0.133	B	0.041	U	1.000	N	.	.	-0.63	T	-0.845	T	0.141	T	0.012	0.642	7.446	0.060	-0.130	2.270	3.249	0.145	0.0043573498316	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs992134227	1.59e-05	1.505e-05	1.855e-05	1.318e-05	0.0002	1.041e-05	8.89e-06	1.043e-05	8.6e-06	0	2.802e-05	0	0	0	0.0002	1.669e-05	1.727e-05	1.262e-05	3.286e-05	3.283e-05	5.139e-05	1.346e-05	7.351e-05	1.261e-05	7.98e-06	2.847e-05	1.858e-05	0	0	0	0	0	0	0	7.351e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.040639	0.24037	U	0.308282	0.585395	0.31065	N	.	.	.	.	.	.	.	.	.	.	.	-0.8448	0.52325	T	0.141	0.46072	T	9	0.1537332	0.29012	T	0.004357	0.10624	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.846915	0.52723	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.53324	B	.	.	1.824976	0.23188	15.92	0.95418497305744232	0.26894	0.71179	0.34902	D	AEFDBCI	0.140776	0.26276	N	-0.39464798831115	0.25659	1.394527	-0.526605972514418	0.21432	1.159364	0.967096509383019	0.28952	0.59774	0.34471	0	0.514364	0.08380	0	0.596491	0.31596	0	0.562822	0.20929	0	.	.	3.19	0.060	0.13649	2.633000	0.46185	0.538000	0.19308	-0.103000	0.15852	0.996000	0.39380	0.001000	0.17328	0.195000	0.21750	0.2938:0.2221:0.4841:0.0	3.249	0.06403	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1238.98	33	chr4	3500319	.	G	A	1238.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=825;ExcessHet=0.0000;FS=0.685;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=0.644;SOR=0.607	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1148	20	0	1	0
chr4	3767694	3767694	C	A	exonic	ADRA2C	.	nonsynonymous SNV	ADRA2C:NM_000683:exon1:c.C1088A:p.A363E,	.	.	12	1508	2	0	0	2	0.000662691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.452	B	0.23	B	.	.	1.000	N	1.065	L	1.18	T	-1.053	T	0.059	T	0.202	2.163	13.19	2.38	1.696	2.741	7.956	0.036	0.0320237160473	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1026515425	1.036e-05	1.163e-05	1.236e-05	8.34e-06	1.356e-05	6.22e-06	4.94e-06	8.14e-06	6.45e-06	0	0	0	0	0	0	1.356e-05	0	0	1.975e-05	1.97e-05	2.573e-05	1.348e-05	4.416e-05	5.25e-06	2.46e-06	1.172e-05	6.25e-06	0	0	0	0	0	0	0	4.416e-05	0	0	0.077	0.34095	T	0.318	0.19246	T	0.452	0.36118	B	0.23	0.38212	B	.	.	.	.	1	0.81001	D	0.345	0.11182	N	1.18	0.37746	T	-0.99	0.26200	N	0.21	0.23380	-1.0527	0.13655	T	0.059	0.24908	T	9	0.16465777	0.30798	T	0.032024	0.53962	D	0.036	0.09122	0.445	0.50302	0.602697383572	0.59952	0.5848415117808583	0.58414	.	.	0.92745256424	0.98837	D	0.036881	0.24268	T	-0.181843	0.23461	T	-0.498981	0.22455	T	0.262099281807264	0.23406	T	0.625537	0.24174	T	0.34386763	0.56585	0.29112843	0.55137	0.34386763	0.56585	0.29112843	0.55136	-5.399	0.40910	T	.	.	0.201	0.42506	B	.	.	2.902407	0.38477	20.7	0.9784575037721579	0.36358	0.29060	0.23721	N	AEFDBHCIJ	0.077411	0.15597	N	-0.168854409628834	0.34436	1.965475	-0.0926082926701887	0.35695	2.068154	0.999951991292813	0.48110	0.789315	0.99827	0	0.596491	0.49125	0	0.768056	0.98339	0	0.63947	0.58350	0	.	.	3.35	2.38	0.28415	1.495000	0.35236	4.712000	0.44461	0.498000	0.22619	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.4728:0.5272:0.0:0.0	7.956	0.29202	982	0.03397	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2350.98	33	chr4	3767694	.	C	A	2350.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.786e+00;DP=850;ExcessHet=0.0000;FS=3.609;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.91;ReadPosRankSum=-8.230e-01;SOR=0.425	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1197	20	0	1	0
chr4	4302773	4302773	A	G	exonic	ZBTB49	.	nonsynonymous SNV	ZBTB49:NM_001330625:exon3:c.A937G:p.N313D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.992	D	0.911	D	0.011	N	1.000	D	2.255	M	2.75	T	-1.047	T	0.112	T	0.091	4.763	26.7	5.57	2.247	6.621	16.032	0.232	0.0150300786139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.029	0.54541	D	0.962	0.55554	D	0.687	0.53665	P	0.011477	0.29519	N	0.290039	0.999266	0.81001	D	2.75	0.80375	M	2.75	0.11622	T	-2.05	0.47008	N	0.355	0.39659	-1.0474	0.15130	T	0.112	0.40006	T	10	0.3653257	0.53054	T	0.01503	0.35522	T	0.232	0.53354	0.491	0.57732	0.505151966591	0.50154	0.18602022144209007	0.18520	0.649115808177	0.58234	0.510459184647	0.40288	T	0.010249	0.09270	T	-0.221937	0.17730	T	-0.556574	0.16700	T	0.975922226905823	0.71150	D	0.828517	0.49290	T	0.28373015	0.51403	0.44000277	0.67333	0.28373015	0.51403	0.44000277	0.67334	-8.62	0.65222	D	.	.	0.415	0.60378	A	.	.	3.486207	0.48708	22.7	0.99765237661056405	0.85417	0.99443	0.96093	D	AEFDBI	0.592022	0.58789	D	0.517689363150007	0.68135	5.175865	0.463322604695812	0.65576	4.841379	0.999999998801097	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.508809	0.08732	0	.	.	5.57	5.57	0.84021	6.841000	0.75168	11.122000	0.86574	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	1.0:0.0:0.0:0.0	16.032	0.80384	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1516.98	130	chr4	4302773	.	A	G	1516.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.120e+00;DP=1409;ExcessHet=0.0000;FS=4.192;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=1.25;SOR=1.061	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr4	4315944	4315944	A	C	exonic	ZBTB49	.	nonsynonymous SNV	ZBTB49:NM_001330625:exon7:c.A1595C:p.E532A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.99	D	0.005	N	1.000	D	2.09	M	1.66	T	-0.854	T	0.167	T	0.446	4.478	24.0	4.38	0.959	7.062	11.156	0.281	0.0295891861205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	0.999	0.77913	D	0.99	0.78936	D	0.005497	0.32753	N	0.212294	0.999994	0.81001	D	1.01	0.25309	L	1.66	0.27486	T	-4.57	0.78721	D	0.387	0.42834	-0.8538	0.51703	T	0.167	0.50567	T	10	0.37761143	0.53951	T	0.029589	0.52069	D	0.281	0.59861	0.398	0.42590	0.582138334438	0.57886	0.3645971436726242	0.36373	0.660971587601	0.58894	0.760999679565	0.76077	T	0.149647	0.48874	T	-0.0474172	0.44840	T	-0.305888	0.44100	T	0.997125685214996	0.90826	D	0.815918	0.47089	T	0.40837026	0.61308	0.31128767	0.57136	0.40837026	0.61308	0.31128767	0.57135	-13.145	0.89951	D	.	.	0.703	0.73099	P	.	.	4.281146	0.65215	24.8	0.99711601250943294	0.81353	0.98966	0.89286	D	AEFDGBI	0.758124	0.69687	D	0.614540166275983	0.74094	6.074582	0.576037335329102	0.73226	5.935941	0.999999687996599	0.74766	0.740787	0.97801	0	0.546412	0.12157	0	0.767554	0.98243	0	0.635551	0.53088	0	.	.	5.56	4.38	0.52019	7.299000	0.78160	6.873000	0.56793	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9281:0.0:0.0719:0.0	11.156	0.47717	862	0.33134	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	595.98	27	chr4	4315944	.	A	C	595.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.401e+00;DP=727;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=-5.310e-01;SOR=0.557	GT:AD:DP:GQ:PL	0/0:40,0:40:96:0,96,1440	20	0	1	0
chr4	4387705	4387705	C	T	exonic	NSG1	.	nonsynonymous SNV	NSG1:NM_001040101:exon2:c.C76T:p.P26S	.	.	408	1091	20	3	0	26	0.0117754	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.25	M	.	.	-0.043	T	0.424	T	0.707	4.421	23.5	3.58	1.720	6.636	15.563	0.836	0.260044410684	0.0022	0.00139776	0.0037	0.0006	0.0016	0	0.0009	0.0042	0.0055	0.0082	0.0031824	492	154602	rs142822048	0.0034	0.0034	0.0032	0.0035	0.0073	0.0033	0.0032	0.0069	0.0067	0.0007	0.0013	0.0036	0	0.0015	0.0066	0.0034	0.0030	0.0073	0.0026	0.0026	0.0027	0.0024	0.0064	0.0024	0.0023	0.0047	0.0040	0.0008	0	0.0016	0.0055	0	0.0015	0.0034	0.0038	0.0047	0.0064	0.005	0.91255	D	0.012	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000260	0.46924	D	0.087374	0.999962	0.52935	D	2.625	0.76847	M	.	.	.	-6.93	0.93404	D	0.944	0.95139	-0.0432	0.81350	T	0.424	0.76829	T	9	0.03500849	0.01730	T	0.260044	0.89470	D	0.836	0.94840	.	.	0.208000267992	0.20380	0.6917166098478376	0.69111	0.649512840078	0.58260	0.744388818741	0.73619	T	0.342433	0.71121	T	-0.106336	0.35373	T	0.0791848	0.75523	D	0.0520396232938029	0.05854	T	0.972903	0.90223	D	0.67425513	0.76661	0.66174376	0.80178	0.67425513	0.76662	0.66174376	0.80179	-3.226	0.12800	T	.	.	0.980	0.91161	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.799676	0.77971	26.8	0.99908833821645204	0.97875	0.95846	0.66404	D	AEFDBHIJ	0.839233	0.75667	D	0.633910298586321	0.75329	6.287108	0.548753122361123	0.71312	5.635457	0.999999999984736	0.74766	0.766844	0.99359	0	0.541168	0.11318	0	0.851219	0.99655	0	0.604282	0.37693	0	.	.	3.58	3.58	0.40133	6.811000	0.75010	7.169000	0.57721	0.456000	0.21511	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	15.563	0.76003	982	0.03397	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1116.98	33	chr4	4387705	.	C	T	1116.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.88;DP=872;ExcessHet=0.0000;FS=2.143;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.25;ReadPosRankSum=0.081;SOR=0.879	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1136	20	0	1	0
chr4	5563024	5563024	C	T	exonic	EVC2	.	nonsynonymous SNV	EVC2:NM_001166136:exon22:c.G3511A:p.E1171K	Ellis-van Creveld syndrome, Autosomal recessive;Weyers acrofacial dysostosis, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.84	P	0.129	B	0.150	N	1.000	N	0.895	L	-0.84	T	-0.918	T	0.178	T	0.279	2.303	13.66	2.29	0.545	1.321	7.199	0.102	0.0219637780548	.	.	2.471e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs769520928	2.736e-05	2.736e-05	1.361e-05	4.125e-05	0.0003	2.062e-05	1.816e-05	0.0002	0.0001	0	0	0	0	0	0.0002	1.529e-05	0	0.0003	1.314e-05	1.313e-05	0	2.69e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.469e-05	0	0.0002	0.241	0.17643	T	0.101	0.38891	T	0.84	0.46486	P	0.129	0.32841	B	0.150072	0.17997	N	0.572654	1	0.08975	N	1.845	0.48678	L	-0.85	0.74371	T	-1.32	0.34795	N	0.197	0.21710	-0.9182	0.45797	T	0.178	0.52365	T	10	0.10088503	0.18399	T	0.021964	0.44807	T	0.102	0.29158	0.317	0.29419	0.695568829229	0.69294	0.12977325743877544	0.12902	0.0750409668972	0.08422	0.38676148653	0.23212	T	0.027367	0.20056	T	-0.266121	0.12194	T	-0.345741	0.39693	T	0.292006820440292	0.24673	T	0.70223	0.31206	T	0.043670982	0.06848	0.0638812	0.12719	0.043670982	0.06848	0.0638812	0.12719	-3.837	0.21358	T	.	.	0.084	0.09820	B	.;.	.;.	2.169246	0.27642	17.53	0.98693975072475137	0.44809	0.06904	0.12930	N	AEFDBI	0.088524	0.17946	N	-0.554289258456578	0.20349	1.072083	-0.587046486016439	0.19830	1.06573	1.89895771657727E-4	0.05844	0.651	0.46895	0	0.588015	0.36545	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.17	2.29	0.27658	1.713000	0.37570	0.321000	0.17185	-0.872000	0.02536	0.133000	0.23395	0.001000	0.17328	0.657000	0.32885	0.0:0.5817:0.3268:0.0916	7.199	0.25047	958	0.09170	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4023.98	346	chr4	5563024	.	C	T	4023.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.016;DP=1039;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=-6.300e-02;SOR=0.674	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr4	5618536	5618536	G	A	exonic	EVC2	.	nonsynonymous SNV	EVC2:NM_001166136:exon15:c.C2408T:p.A803V	Ellis-van Creveld syndrome, Autosomal recessive;Weyers acrofacial dysostosis, Autosomal dominant	.	1	1519	2	0	0	2	0.000657895	.	.	698563	not_provided|Curry-Hall_syndrome|Ellis-van_Creveld_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0008673,MedGen:C0457013,OMIM:193530,Orphanet:952|MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500,Orphanet:289|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.21	T	0.97	D	0.265	B	0.000	D	1.000	N	0.695	N	-1.04	T	-0.822	T	0.168	T	0.311	2.833	15.44	4.37	2.488	1.943	9.876	0.228	.	0.0027	0.00179712	0.0040	0.0006	0.0008	0	0.0164	0.0049	0.0022	0.0019	0.0037322	577	154602	rs140951974	0.0034	0.0034	0.0034	0.0033	0.0033	0.0033	0.0032	0.0032	0.0031	0.0004	0.0011	0.0014	2.519e-05	0.0156	0	0.0033	0.0030	0.0021	0.0031	0.0031	0.0029	0.0034	0.0037	0.0029	0.0028	0.0033	0.0032	0.0008	0	0.0024	0.0012	0	0.0126	0	0.0037	0.0024	0.0019	0.02	0.49613	D	0.042	0.50226	D	0.97	0.56973	D	0.265	0.39681	B	0.000026	0.55875	D	0.070344	0.999998	0.08975	N	2.4	0.69460	M	-1.04	0.76561	T	-1.97	0.45587	N	0.424	0.46928	-0.8220	0.53809	T	0.168	0.50810	T	10	0.009963959	0.00223	T	.	.	.	0.228	0.52768	.	.	0.751584923666	0.74933	0.09146586134391581	0.09079	0.0858429565508	0.09703	0.393966376781	0.24227	T	0.07057	0.33993	T	-0.35005	0.04724	T	-0.274646	0.47349	T	0.03326945179004	0.02516	T	0.653735	0.26383	T	0.07926738	0.18099	0.106496006	0.25622	0.06676561	0.14395	0.10454909	0.25113	-4.807	0.34673	T	.	.	0.128	0.27222	B	.;.	.;.	2.819753	0.37142	20.4	0.9986761278234797	0.94547	0.16462	0.19400	N	AEFBI	0.099576	0.20041	N	-0.180453971305093	0.33949	1.932	-0.215210126344091	0.30989	1.749722	0.996215378126325	0.34598	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.3	4.37	0.51830	2.092000	0.41326	2.967000	0.35781	0.676000	0.76740	0.141000	0.23520	0.562000	0.25526	0.372000	0.26156	0.0:0.0:0.6587:0.3413	9.876	0.40373	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	871.98	34	chr4	5618536	.	G	A	871.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.162e+00;DP=776;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=0.761;SOR=0.708	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1038	20	0	1	0
chr4	5640776	5640776	C	T	exonic	EVC2	.	nonsynonymous SNV	EVC2:NM_001166136:exon10:c.G968A:p.S323N	Ellis-van Creveld syndrome, Autosomal recessive;Weyers acrofacial dysostosis, Autosomal dominant	.	0	1501	21	0	0	21	0.00694674	.	.	721018	not_provided|Ellis-van_Creveld_syndrome|Curry-Hall_syndrome	MedGen:C3661900|MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500,Orphanet:289|MONDO:MONDO:0008673,MedGen:C0457013,OMIM:193530,Orphanet:952	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.55	T	0.998	D	0.943	D	0.000	D	0.611	N	2.015	M	-1.13	T	-0.589	T	0.051	T	0.301	3.207	16.74	4.25	2.074	2.183	16.006	0.224	0.0411983010116	.	0.00159744	0.0009	9.623e-05	0.0002	0	0.0002	0.0001	0.0011	0.0058	0.0007891	122	154602	rs202093384	0.0005	0.0005	0.0003	0.0007	0.0054	0.0005	0.0005	0.0050	0.0048	5.974e-05	6.708e-05	0	0	0	0.0035	0.0002	0.0007	0.0054	0.0003	0.0003	0.0003	0.0004	0.0066	0.0003	0.0002	0.0048	0.0042	2.406e-05	0	0	0	0	0	0	0.0002	0.0005	0.0066	0.267	0.16198	T	0.083	0.42086	T	0.998	0.73220	D	0.943	0.67921	D	0.000027	0.55875	D	0.068846	0.611081	0.30860	N	2.39	0.68882	M	-1.13	0.77719	T	-1.07	0.27876	N	0.505	0.53708	-0.5889	0.65264	T	0.051	0.21806	T	10	0.009762138	0.00219	T	0.041198	0.59795	D	0.224	0.52174	.	.	0.859301265328	0.85794	0.24030642424541548	0.23944	0.16723517785	0.18862	0.449978023767	0.31940	T	0.403872	0.76050	T	-0.352491	0.04572	T	-0.277048	0.47106	T	0.0594543888086458	0.07082	T	0.786321	0.43180	T	0.18487015	0.39822	0.16306011	0.37845	0.19000372	0.40566	0.1558746	0.36518	-6.123	0.47297	T	.	.	0.327	0.56185	B	.;.	.;.	3.898939	0.56784	23.8	0.99347238664740978	0.60412	0.84233	0.43316	D	AEFBI	0.289735	0.40130	N	0.361466890216439	0.59348	4.113422	0.302342201556127	0.55676	3.731	0.999999986085553	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.25	4.25	0.49658	1.811000	0.38580	5.582000	0.48972	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.735000	0.35267	0.0:1.0:0.0:0.0	16.006	0.80158	964	0.07719	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	951.98	44	chr4	5640776	.	C	T	951.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.07;DP=887;ExcessHet=0.0000;FS=4.006;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.70;ReadPosRankSum=2.24;SOR=1.121	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	20	0	1	0
chr4	5663212	5663212	G	A	exonic	EVC2	.	nonsynonymous SNV	EVC2:NM_001166136:exon9:c.C800T:p.P267L	Ellis-van Creveld syndrome, Autosomal recessive;Weyers acrofacial dysostosis, Autosomal dominant	.	0	1519	2	1	0	4	0.00131492	.	.	698573	EVC2-related_disorder|Ellis-van_Creveld_syndrome|Curry-Hall_syndrome	.|MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500,Orphanet:289|MONDO:MONDO:0008673,MedGen:C0457013,OMIM:193530,Orphanet:952	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.04	D	0.008	B	0.002	B	0.089	N	0.993	D	1.1	L	-0.97	T	-0.893	T	0.215	T	0.093	0.729	7.873	1.19	0.028	0.434	4.552	0.086	.	0.0002	0.00139776	0.0018	0.0002	8.637e-05	0	0	1.499e-05	0.0011	0.0128	0.0014683	227	154602	rs199708349	0.0007	0.0007	0.0004	0.0010	0.0114	0.0007	0.0007	0.0108	0.0105	2.987e-05	0	0	0	0	0	3.507e-05	0.0008	0.0114	0.0004	0.0004	0.0002	0.0006	0.0108	0.0003	0.0003	0.0085	0.0076	7.221e-05	0	0	0	0	0	0	4.41e-05	0	0.0108	0.063	0.36709	T	0.369	0.18395	T	0.008	0.14655	B	0.002	0.06944	B	0.088712	0.20466	N	0.510671	0.993193	0.41864	D	0.715	0.18665	N	-0.97	0.75670	T	-1.13	0.29114	N	0.173	0.18512	-0.8926	0.48705	T	0.215	0.57626	T	10	0.009178281	0.00207	T	.	.	.	0.086	0.25016	.	.	0.677650614841	0.67491	0.1420078438159779	0.14123	0.0206719541989	0.02037	0.25815141201	0.04673	T	0.16913	0.51640	T	-0.506659	0.00524	T	-0.490169	0.23372	T	0.0259829375531896	0.01403	T	0.710329	0.32403	T	0.037136674	0.04704	0.038101792	0.03606	0.03212981	0.03181	0.039632358	0.04101	-6.029	0.46522	T	.	.	0.065	0.01960	B	.;.	.;.	0.954684	0.13308	9.812	0.72428005301053711	0.09970	0.09718	0.15411	N	AEFBI	0.032069	0.03552	N	-0.880601135276297	0.11305	0.544845	-0.850741493258517	0.13269	0.6874434	0.00270880720851673	0.09647	0.693126	0.56070	0	0.588066	0.40923	0	0.659464	0.59346	0	0.635551	0.53088	0	.	.	5.27	1.19	0.20120	0.345000	0.19720	1.143000	0.24420	-0.688000	0.04154	0.268000	0.25027	0.807000	0.27003	0.023000	0.12082	0.2038:0.0:0.3927:0.4035	4.552	0.11516	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	1493.98	36	chr4	5663212	.	G	A	1493.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.583;DP=834;ExcessHet=0.0000;FS=0.646;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=0.725;SOR=0.769	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1308	20	0	1	0
chr4	5731513	5731513	C	G	exonic	EVC	.	nonsynonymous SNV	EVC:NM_001306090:exon4:c.C473G:p.S158C	Ellis-van Creveld syndrome, Autosomal recessive;Weyers acrodental dysostosis, Autosomal dominant	.	0	1506	14	2	0	18	0.00594059	.	.	194543	Curry-Hall_syndrome|Ellis-van_Creveld_syndrome|not_specified|not_provided	MONDO:MONDO:0008673,MedGen:C0457013,OMIM:193530,Orphanet:952|MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500,Orphanet:289|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.02	D	0.009	B	0.016	B	0.091	N	0.938	N	1.5	L	0.33	T	-0.897	T	0.149	T	0.23	0.693	7.698	3.09	0.980	1.288	8.359	0.033	.	0.0002	0.00579073	0.0048	0.0004	8.642e-05	0.0001	0	0.0001	0.0055	0.0341	0.0040556	627	154602	rs150284356	0.0019	0.0019	0.0011	0.0028	0.0308	0.0019	0.0019	0.0298	0.0294	0.0001	2.236e-05	0	0	1.872e-05	0.0009	5.575e-05	0.0019	0.0308	0.0009	0.0010	0.0004	0.0015	0.0272	0.0008	0.0008	0.0234	0.0220	0.0002	0	6.541e-05	0	0.0002	0	0	4.411e-05	0	0.0272	0.045	0.40832	D	0.066	0.52727	T	0.009	0.15093	B	0.016	0.17743	B	0.090662	0.20364	N	0.506151	0.937537	0.26888	N	1.905	0.50856	L	0.23	0.59717	T	-2.46	0.53736	N	0.307	0.34659	-0.8971	0.48283	T	0.149	0.47487	T	10	0.006228596	0.00140	T	.	.	.	0.033	0.08068	.	.	0.695384053018	0.69276	0.20101062592298638	0.20018	.	.	0.372153639793	0.21140	T	0.37217	0.73641	T	-0.463818	0.00930	T	-0.413952	0.31771	T	0.0108419928448518	0.00154	T	0.740526	0.36724	T	0.10484914	0.24787	0.10847149	0.26130	0.11693055	0.27573	0.12203861	0.29440	-4.95	0.36292	T	0.25129089514443764	0.34006	0.077	0.06479	B	.;.	.;.	2.217135	0.28292	17.75	0.90625967589876466	0.19878	0.78038	0.38444	D	AEFBI	0.111050	0.22000	N	-0.3497750540183	0.27279	1.495471	-0.286488499668075	0.28543	1.592284	0.941644116218326	0.27486	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	3.95	3.09	0.34677	1.310000	0.33156	1.060000	0.23712	0.599000	0.40250	0.996000	0.39380	0.997000	0.33255	0.858000	0.40661	0.1765:0.6528:0.1707:0.0	8.359	0.31512	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1550.98	41	chr4	5731513	.	C	G	1550.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.320;DP=909;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.20;ReadPosRankSum=-1.162e+00;SOR=0.648	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr4	5752984	5752984	G	A	exonic	EVC	.	nonsynonymous SNV	EVC:NM_001306090:exon9:c.G1247A:p.R416Q	Ellis-van Creveld syndrome, Autosomal recessive;Weyers acrodental dysostosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	272096	Ellis-van_Creveld_syndrome|Curry-Hall_syndrome|not_provided	MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500,Orphanet:289|MONDO:MONDO:0008673,MedGen:C0457013,OMIM:193530,Orphanet:952|MedGen:CN517202	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.38	T	0.18	B	0.019	B	0.002	N	1.000	N	1.04	L	0.61	T	-1.067	T	0.077	T	0.088	1.788	11.94	1.29	-0.078	-0.056	2.443	0.040	0.00715693749466	.	.	9.363e-06	0	0	0	0	1.708e-05	0	0	6.5e-06	1	154602	rs745640537	6.844e-06	8.209e-06	6.809e-06	6.879e-06	8.961e-05	3.46e-06	2.52e-06	2.375e-05	1.258e-05	8.961e-05	0	0	0	0	0	4.497e-06	1.658e-05	1.16e-05	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.208	0.24564	T	0.171	0.30339	T	0.18	0.29046	B	0.019	0.18783	B	0.002222	0.36970	N	0.256670	0.999985	0.18198	N	0.625	0.15840	N	0.54	0.54911	T	-1.35	0.35399	N	0.128	0.12198	-1.0672	0.10039	T	0.077	0.30676	T	10	0.068280935	0.09633	T	0.007157	0.18979	T	0.040	0.10527	.	.	0.385743280973	0.38186	0.05149396031347612	0.05091	.	.	0.232880175114	0.02188	T	0.186774	0.54018	T	-0.264613	0.12364	T	-0.602389	0.12611	T	0.203258320689201	0.20594	T	0.813219	0.49484	T	0.060595926	0.12452	0.06178851	0.11986	0.060595926	0.12452	0.06178851	0.11985	-3.511	0.16586	T	0.1842624282864778	0.23892	0.070	0.07177	B	.;.	.;.	0.936298	0.13117	9.620	0.99410419013903617	0.63263	0.12415	0.17255	N	AEFDBCIJ	0.074811	0.15006	N	-0.817973342212896	0.12852	0.6291468	-0.817801985258196	0.14065	0.7329607	0.999953795466575	0.48110	0.538715	0.22204	0	0.577304	0.33150	0	0.338622	0.05889	2	0.563494	0.21769	0	.	.	5.32	1.29	0.20717	0.118000	0.15436	-0.897000	0.07005	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.493000	0.28859	0.1848:0.1435:0.5236:0.1481	2.443	0.04225	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	789.98	34	chr4	5752984	.	G	A	789.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.700e-01;DP=866;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.26;ReadPosRankSum=-2.780e-01;SOR=0.749	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr4	5988873	5988873	G	A	exonic	C4orf50	.	nonsynonymous SNV	C4orf50:NM_001364690:exon5:c.C2636T:p.T879I	.	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	.	.	.	.	.	.	1.000	N	.	.	1.82	T	-0.998	T	0.048	T	0.02	1.525	11.05	-1.65	-0.478	-0.329	5.561	0.008	0.0173933740653	.	0.00139776	0.0002	0.0018	0	0	0	0	0	0.0001	5.82e-05	9	154602	rs537830288	0.0002	0.0002	0.0002	0.0002	0.0044	0.0002	0.0002	0.0038	0.0036	0.0044	0.0010	0	0	0	0.0012	4.449e-05	0.0005	6.311e-05	0.0011	0.0011	0.0011	0.0011	0.0037	0.0010	0.0009	0.0033	0.0031	0.0037	0	0.0005	0	0	0	0.0034	5.88e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9984	0.30367	T	0.048	0.20474	T	6	0.008507282	0.00193	T	0.017393	0.39069	T	0.008	0.00669	.	.	0.0806252709748	0.07271	0.018592989722704522	0.01813	0.0259154320765	0.02646	.	.	.	.	.	.	-0.732093	0.00023	T	-0.824898	0.01356	T	0.00312078845783918	0.00033	T	0.342666	0.07446	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.31355	B	.	.	0.294555	0.06705	3.213	0.94789219642571254	0.25527	0.03373	0.08472	N	AEFDBI	.	.	.	-0.962138520602753	0.09421	0.4458361	-1.11284842759607	0.07454	0.3626402	1.76118036808667E-5	0.02871	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.47	-1.65	0.07849	-0.302000	0.08259	-0.701000	0.07794	-0.740000	0.03671	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.312:0.3923:0.2957:0.0	5.561	0.16429	988	0.01987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1959.98	187	chr4	5988873	.	G	A	1959.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=3386;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.00;ReadPosRankSum=-6.880e-01;SOR=0.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:166,0:166:99:.:.:0,120,1800	20	0	1	0
chr4	5992880	5992880	C	A	exonic	C4orf50	.	nonsynonymous SNV	C4orf50:NM_001364690:exon4:c.G607T:p.A203S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.361e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.10410553	0.19174	T	.	.	.	.	.	.	.	.	.	0.02420613222512127	0.02371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.371963	0.08817	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.17445	B	.	.	0.570423	0.09389	6.169	0.70297180590517439	0.09250	0.03592	0.08815	N	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.00479043309594622	0.10711	0.078448	0.01964	0	0.066906	0.01782	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0757357	0.17567	2.98	1.23	0.20358	-0.140000	0.10323	-1.163000	0.06147	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.7223:0.0:0.2777	5.224	0.14704	988	0.01987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	36.99	5	chr4	5992880	.	C	A	36.99	.	AC=2;AF=0.083;AN=24;DP=59;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2818;MLEAC=2;MLEAF=0.083;MQ=60.00;QD=18.50;SOR=0.693	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,34	11	1	0	9
chr4	6080248	6080248	G	A	exonic	JAKMIP1	.	nonsynonymous SNV	JAKMIP1:NM_001306134:exon6:c.C671T:p.T224M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.993	D	0.742	P	0.000	D	0.993	D	1.59	L	1.86	T	-0.967	T	0.089	T	0.325	3.929	19.99	4.34	2.144	4.922	16.235	0.087	0.0212130256957	7.7e-05	0.00139776	0.0004	9.735e-05	0.0007	0.0036	0	3.016e-05	0	0.0002	0.0003428	53	154602	rs144030215	0.0002	0.0002	0.0002	0.0002	0.0050	0.0002	0.0002	0.0044	0.0042	0.0001	0.0003	3.826e-05	0.0050	0	0.0003	4.496e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0033	0.0001	0.0001	0.0021	0.0017	9.623e-05	0	0	0	0.0033	0	0	7.351e-05	0	0.0002	0.005	0.63226	D	0.02	0.70582	D	0.98	0.60381	D	0.742	0.55764	P	0.000112	0.50451	D	0.084010	0.992511	0.41666	D	1.5	0.37844	L	1.86	0.32722	T	-2.12	0.48184	N	0.44	0.51761	-0.9671	0.37794	T	0.089	0.34160	T	10	0.0069595277	0.00158	T	0.021213	0.43943	T	0.087	0.25287	.	.	0.158540857583	0.15491	0.22879965081063333	0.22794	1.50609361847	0.87140	0.671338021755	0.63029	T	0.098856	0.40309	T	-0.440665	0.01282	T	-0.409439	0.32290	T	0.132059431744726	0.15571	T	0.979152	0.93285	D	0.0902595	0.21114	0.12899402	0.31025	0.0902595	0.21114	0.12899402	0.31024	-10.388	0.77517	D	0.18818698134785544	0.24565	0.215	0.44488	B	.;.;.;.;.	.;.;.;.;.	4.974719	0.82356	27.8	0.99887936106446118	0.96281	0.95123	0.63522	D	AEFBI	0.755810	0.69526	D	0.456381951444637	0.64566	4.714058	0.440509165652815	0.64110	4.658758	0.996804307513611	0.35023	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.34	4.34	0.51267	4.313000	0.58952	7.291000	0.58055	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.631000	0.32184	0.0:0.0:1.0:0.0	16.235	0.82189	988	0.01987	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	959.98	35	chr4	6080248	.	G	A	959.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.73;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.11;ReadPosRankSum=0.148;SOR=0.634	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1175	20	0	1	0
chr4	6080291	6080291	C	T	exonic	JAKMIP1	.	nonsynonymous SNV	JAKMIP1:NM_001306134:exon6:c.G628A:p.A210T	.	.	434	1077	10	1	0	12	0.00554017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.228	B	0.085	B	0.012	N	0.994	N	0.895	L	1.91	T	-1.053	T	0.046	T	0.219	0.611	7.292	3.59	0.998	0.819	5.203	0.027	0.00722571738236	7.7e-05	0.000199681	0.0005	0	0.0002	0	0	9.025e-05	0	0.0031	0.0004075	63	154602	rs138699844	0.0002	0.0002	0.0001	0.0003	0.0029	0.0002	0.0002	0.0026	0.0025	0	8.947e-05	0	2.519e-05	0	0.0019	3.507e-05	0.0002	0.0029	0.0001	0.0001	8.991e-05	0.0001	0.0015	7.085e-05	5.742e-05	0.0007	0.0005	0	0	0	0	0	0	0.0102	0.0001	0	0.0015	0.092	0.31987	T	0.325	0.36101	T	0.004	0.30509	B	0.015	0.29395	B	0.011833	0.29386	N	0.287918	0.994168	0.23574	N	0	0.06538	N	1.91	0.31470	T	-0.77	0.25332	N	0.159	0.21710	-1.0534	0.13466	T	0.046	0.19640	T	10	0.008037627	0.00182	T	0.007226	0.19171	T	0.027	0.05988	.	.	0.261638197198	0.25763	0.1321002317582474	0.13135	0.630853255338	0.57057	0.455531328917	0.32700	T	0.037801	0.24608	T	-0.540661	0.00332	T	-0.554014	0.16943	T	0.0181557738384515	0.00537	T	0.727427	0.34191	T	0.03467473	0.03937	0.054701712	0.09458	0.03467473	0.03936	0.054701712	0.09457	-3.421	0.17153	T	0.11350665606208556	0.09941	0.079	0.07083	B	.;.;.;.;.	.;.;.;.;.	2.226791	0.28424	17.79	0.97744274823842625	0.35702	0.75837	0.37153	D	AEFBI	0.221552	0.34617	N	-0.553831344486567	0.20364	1.072944	-0.504843009408668	0.22021	1.19406	0.0115834230930867	0.12207	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.44	3.59	0.40253	0.636000	0.24333	1.013000	0.23346	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.460000	0.28118	0.0:0.6223:0.1866:0.1911	5.203	0.14601	988	0.01987	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1070.98	35	chr4	6080291	.	C	T	1070.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.399e+00;DP=778;ExcessHet=0.0000;FS=4.246;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=0.109;SOR=1.216	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1175	20	0	1	0
chr4	6112788	6112788	C	T	exonic	JAKMIP1	.	nonsynonymous SNV	JAKMIP1:NM_001099433:exon2:c.G63A:p.M21I	.	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.003	B	0.004	B	0.001	D	0.879	N	0	N	1.58	T	-1.053	T	0.037	T	0.262	2.145	13.13	3.94	2.041	0.570	9.264	0.039	0.00779733033995	.	.	0.0002	0	0	0	0	1.5e-05	0.0011	0.0014	0.0001617	25	154602	rs771507170	8.62e-05	8.687e-05	2.995e-05	0.0001	0.0013	7.354e-05	6.903e-05	0.0011	0.0011	0	0	0	0	0	0.0003	6.295e-06	4.968e-05	0.0013	6.564e-05	6.561e-05	1.284e-05	0.0001	0.0019	3.513e-05	2.614e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0.0005	0.0019	0.026	0.46910	D	0.015	0.61642	D	0.001	0.11197	B	0.001	0.10090	B	0.000751	0.42006	D	0.160941	0.879297	0.28077	N	0	0.06538	N	1.58	0.29085	T	-0.69	0.19720	N	0.239	0.28732	-1.0533	0.13493	T	0.037	0.15943	T	10	0.015848577	0.00333	T	0.007797	0.20694	T	0.039	0.10176	0.17	0.07536	0.292942362817	0.28906	0.12401586335035553	0.12327	0.730299924381	0.62702	0.513253033161	0.40678	T	0.055062	0.29901	T	-0.487104	0.00674	T	-0.518019	0.20495	T	0.0641444451767835	0.07803	T	0.967503	0.88224	D	0.14706887	0.33638	0.16117856	0.37504	0.20515357	0.42648	0.15562008	0.36470	-3.508	0.16543	T	0.097980507310446	0.06955	0.145	0.43935	B	.;.;.;.;.	.;.;.;.;.	2.924542	0.38838	20.8	0.9912410665730812	0.53063	0.61249	0.31430	D	AEFDBI	0.174034	0.30114	N	-0.33471367790272	0.27837	1.530558	-0.154643630471496	0.33230	1.898689	0.991355568499298	0.32460	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	3.94	3.94	0.44807	0.637000	0.24348	2.517000	0.33102	0.549000	0.26987	0.999000	0.42656	1.000000	0.68203	0.942000	0.48361	0.3481:0.6518:0.0:0.0	9.264	0.36792	994	0.00715	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1649.98	39	chr4	6112788	.	C	T	1649.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.26;DP=907;ExcessHet=0.0000;FS=0.635;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=0.703;SOR=0.602	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1156	20	0	1	0
chr4	6300948	6300948	G	A	exonic	WFS1	.	nonsynonymous SNV	WFS1:NM_001145853:exon8:c.G1153A:p.E385K	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	.	0	1507	14	1	0	16	0.00528053	.	.	173964	WFS1-related_disorder|Monogenic_diabetes|WFS1-Related_Spectrum_Disorders|not_specified|not_provided|Autosomal_dominant_nonsyndromic_hearing_loss_6	.|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:CN239410|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.1	T	0.96	D	0.403	B	0.000	D	1.000	D	1.59	L	-3.02	D	0.467	D	0.692	D	0.721	4.464	23.8	4.84	2.240	9.067	16.940	0.769	0.565146094024	0.0007	0.000399361	0.0014	9.61e-05	0.0007	0	0.0033	0.0017	0.0011	0.0013	0.0011643	180	154602	rs71524353	0.0007	0.0007	0.0007	0.0007	0.0028	0.0007	0.0007	0.0017	0.0014	8.962e-05	0.0009	0.0053	0	0.0028	0.0028	0.0005	0.0012	0.0013	0.0008	0.0008	0.0008	0.0009	0.0009	0.0007	0.0007	0.0006	0.0005	9.631e-05	0	0.0009	0.0092	0.0002	0.0025	0	0.0007	0.0019	0.0002	0.077	0.34095	T	0.01	0.65728	D	0.96	0.55278	D	0.403	0.44588	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.83	0.82355	M	-3.02	0.92258	D	-1.87	0.43717	N	0.838	0.83371	0.467	0.90083	D	0.692	0.89360	D	10	0.056906283	0.06453	T	0.565146	0.96046	D	0.769	0.92212	.	.	0.994968230274	0.99491	0.9385606399102261	0.93837	.	.	0.60305249691	0.53335	T	0.314574	0.68624	T	-0.00549336	0.50895	T	0.173781	0.81633	D	0.0855371755511185	0.10679	T	0.969903	0.89155	D	0.31824198	0.54491	0.2654629	0.52379	0.31824198	0.54491	0.2654629	0.52378	-3.653	0.18627	T	0.7691234597975248	0.85027	0.866	0.80659	P	.;.	.;.	4.047326	0.59964	24.2	0.99918686388327771	0.98586	0.98879	0.88076	D	AEFBI	0.942720	0.94765	D	0.540693790863653	0.69516	5.368209	0.583132595327909	0.73729	6.018697	0.99999999944049	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.84	4.84	0.62125	9.341000	0.96446	8.570000	0.77602	0.670000	0.69193	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	16.940	0.86085	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	3150.98	213	chr4	6300948	.	G	A	3150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.67;DP=4708;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=-5.190e-01;SOR=0.661	GT:AD:DP:GQ:PL	0/0:272,0:272:99:0,120,1800	20	0	1	0
chr4	6301953	6301953	A	G	exonic	WFS1	.	nonsynonymous SNV	WFS1:NM_001145853:exon8:c.A2158G:p.I720V	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	.	0	1511	11	0	0	11	0.00362677	.	.	141622	not_specified|WFS1-Related_Spectrum_Disorders|Diabetes_mellitus|Wolfram_syndrome_1|Wolfram-like_syndrome|Cataract_41|Autosomal_dominant_nonsyndromic_hearing_loss_6|Type_2_diabetes_mellitus|not_provided|Monogenic_diabetes	MedGen:CN169374|MedGen:CN239410|Human_Phenotype_Ontology:HP:0000819,Human_Phenotype_Ontology:HP:0004908,Human_Phenotype_Ontology:HP:0008217,Human_Phenotype_Ontology:HP:0008234,Human_Phenotype_Ontology:HP:0008260,MONDO:MONDO:0005015,MedGen:C0011849|MONDO:MONDO:0009101,MedGen:C4551693,OMIM:222300,Orphanet:3463|MONDO:MONDO:0013673,MedGen:C3280358,OMIM:614296,Orphanet:411590|MONDO:MONDO:0007287,MedGen:C3805412,OMIM:116400,Orphanet:91492,Orphanet:98991,Orphanet:98992,Orphanet:98995|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.3	T	0.004	B	0.014	B	0.000	N	0.740	D	1.5	L	-4.15	D	-0.287	T	0.280	T	0.445	1.481	10.90	0.341	-0.136	3.808	8.843	0.433	.	0.0003	0.014976	0.0074	0.0001	0	0.0599	0.0186	0.0027	0.0219	0.0029	0.0065394	1011	154602	rs1805070	0.0036	0.0036	0.0036	0.0036	0.0698	0.0035	0.0035	0.0676	0.0667	8.962e-05	0.0001	0.0011	0.0698	0.0224	0.0010	0.0006	0.0060	0.0027	0.0045	0.0045	0.0032	0.0059	0.0642	0.0042	0.0041	0.0585	0.0563	9.619e-05	0	0.0003	0.0006	0.0642	0.0203	0	0.0013	0.0038	0.0052	0.201	0.20306	T	0.224	0.25591	T	0.004	0.12183	B	0.014	0.16862	B	0.000003	0.62929	N	0.100429	0.740196	0.33814	D	1.39	0.34934	L	-4.15	0.96798	D	-0.57	0.17210	N	0.186	0.20262	-0.2873	0.75340	T	0.280	0.65149	T	10	0.0034231544	0.00060	T	.	.	.	0.433	0.73879	.	.	0.92911295316	0.92838	0.5829553482745569	0.58224	.	.	0.468299537897	0.34447	T	0.145148	0.48213	T	-0.211243	0.19203	T	-0.0119817	0.69556	D	0.0144258577593717	0.00291	T	0.813919	0.46746	T	0.035162937	0.04086	0.0638598	0.12712	0.04181572	0.06228	0.05910474	0.11036	-3.417	0.15286	T	0.15401895742049693	0.18365	0.068	0.03026	B	.;.	.;.	1.359349	0.17679	13.31	0.96611758788161461	0.30445	0.93496	0.58375	D	AEFDBI	0.494324	0.53017	N	-0.349017230391587	0.27307	1.497231	-0.236204943316298	0.30249	1.701557	0.0881872003004449	0.16054	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.49	0.341	0.15229	3.912000	0.56099	0.906000	0.22588	0.653000	0.53440	1.000000	0.71638	0.453000	0.24963	0.946000	0.48989	0.7098:0.0:0.2902:0.0	8.843	0.34310	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	2101.98	68	chr4	6301953	.	A	G	2101.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.612e+00;DP=2271;ExcessHet=0.0000;FS=2.428;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=-5.320e-01;SOR=0.580	GT:AD:DP:GQ:PL	0/1:106,93:199:99:2116,0,2805	20	0	1	0
chr4	6576651	6576651	G	A	exonic	MAN2B2	.	nonsynonymous SNV	MAN2B2:NM_001292038:exon2:c.G212A:p.R71Q	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.945	D	0.002	N	0.990	N	2.845	M	1.77	T	-1.027	T	0.105	T	0.307	2.639	14.79	1.67	0.587	1.984	5.624	0.081	0.00180859945428	.	0.00159744	0.0007	0	8.645e-05	0.0090	0	1.507e-05	0	0.0003	0.0006662	103	154602	rs200793789	0.0002	0.0002	0.0002	0.0002	0.0044	0.0002	0.0002	0.0039	0.0036	2.987e-05	6.709e-05	0	0.0044	1.879e-05	0	2.698e-05	0.0011	0.0004	0.0003	0.0003	0.0003	0.0004	0.0066	0.0002	0.0002	0.0048	0.0042	4.81e-05	0	0.0001	0	0.0066	0	0	1.47e-05	0.0005	0.0017	0.008	0.58626	D	0.012	0.63918	D	0.999	0.77913	D	0.945	0.68163	D	0.002380	0.36688	N	0.237913	0.989543	0.24283	N	3.26	0.89945	M	1.77	0.25841	T	-2.57	0.55501	D	0.597	0.61596	-1.0271	0.21396	T	0.105	0.38366	T	10	0.027827084	0.00922	T	0.001809	0.03115	T	0.157	0.40909	.	.	0.341226946553	0.33730	0.6103165071214288	0.60963	0.5857386282	0.54202	0.4026709795	0.25440	T	0.397389	0.75577	T	-0.435445	0.01376	T	-0.39229	0.34284	T	0.148234518622691	0.16962	T	0.933007	0.74900	D	0.31264737	0.54014	0.2783642	0.53796	0.31264737	0.54013	0.2783642	0.53795	-9.874	0.73154	D	.	.	0.111	0.38080	B	.;.	.;.	3.563994	0.50160	22.9	0.9990457603215398	0.97576	0.48481	0.28217	N	AEFDBCI	0.060974	0.11626	N	0.129188396590925	0.47829	3.003143	-0.103899567068048	0.35233	2.035945	0.999971990035211	0.50053	0.706298	0.61202	0	0.643519	0.57511	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	3.89	1.67	0.23149	2.398000	0.44140	2.666000	0.33914	0.676000	0.76740	1.000000	0.71638	0.074000	0.22270	0.106000	0.18562	0.4203:0.0:0.5797:0.0	5.624	0.16750	982	0.03397	Glycoside hydrolase family 38, N-terminal domain;Glycoside hydrolase family 38, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1244.98	33	chr4	6576651	.	G	A	1244.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.250;DP=830;ExcessHet=0.0000;FS=0.740;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=0.766;SOR=0.790	GT:AD:DP:GQ:PL	0/1:47,54:101:99:1259,0,1022	20	0	1	0
chr4	6594610	6594611	AT	-	exonic	MAN2B2	.	frameshift deletion	MAN2B2:NM_015274:exon7:c.935_936del:p.H312Rfs*109,	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0002	0	0	0	0	0	0	0.0013	0.0001552	24	154602	rs556252784	8.828e-05	8.825e-05	2.996e-05	0.0001	0.0014	7.557e-05	7.104e-05	0.0012	0.0011	0	0	0	0	0	0	0	9.937e-05	0.0014	4.595e-05	4.593e-05	1.285e-05	8.054e-05	0.0014	2.107e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2102.94	35	chr4	6594609	.	CAT	C	2102.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.349e+00;DP=841;ExcessHet=0.0000;FS=0.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.69;ReadPosRankSum=-7.700e-01;SOR=0.785	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1121	20	0	1	0
chr4	6598201	6598201	C	A	exonic	MAN2B2	.	nonsynonymous SNV	MAN2B2:NM_001292038:exon9:c.C1099A:p.Q367K	.	.	426	1085	11	0	0	11	0.00504356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.99	D	0.000	D	1.000	D	3.9	H	-2.3	D	0.927	D	0.848	D	0.876	3.403	17.49	3.98	2.219	4.410	13.184	0.814	0.0318218013203	0.0032	0.000399361	0.0022	0.0006	0.0006	0	0	0.0034	0.0033	0.0014	0.002238	346	154602	rs73209757	0.0026	0.0026	0.0026	0.0026	0.0099	0.0025	0.0025	0.0078	0.0071	0.0004	0.0006	0.0273	0	0	0.0099	0.0023	0.0041	0.0015	0.0027	0.0027	0.0030	0.0024	0.0029	0.0025	0.0024	0.0025	0.0024	0.0005	0.0724	0.0003	0.0277	0	0	0.0136	0.0029	0.0057	0.0027	0.0	0.91255	D	0.013	0.63918	D	0.997	0.90584	D	0.97	0.78936	D	0.000002	0.62929	D	0.059654	0.999996	0.58761	D	4.36	0.98503	H	-2.3	0.87671	D	-3.56	0.68880	D	0.645	0.67736	0.927	0.96065	D	0.848	0.94933	D	10	0.020321548	0.00466	T	0.031822	0.53806	D	0.814	0.94008	.	.	0.966712483379	0.96635	0.8988753416490367	0.89859	0.636032066748	0.57400	0.630196332932	0.57173	T	0.661523	0.89849	D	0.0911385	0.63317	D	0.355087	0.90515	D	0.161712482138268	0.17997	T	0.794321	0.43637	T	0.9814844	0.99221	0.94754326	0.98249	0.9814844	0.99221	0.94754326	0.98250	-15.757	0.97375	D	.	.	0.806	0.77589	P	.;.	.;.	4.303993	0.65734	24.9	0.99468662534823149	0.66207	0.85630	0.44783	D	AEFDGBCI	0.596530	0.59067	D	0.766031118815598	0.83945	8.152115	0.616605386185802	0.76146	6.437414	0.999980532570158	0.51787	0.706548	0.73137	0	0.577304	0.33150	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.86	3.98	0.45383	4.711000	0.61570	6.655000	0.56228	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.818000	0.38543	0.16:0.8399:0.0:0.0	13.184	0.59096	970	0.06235	Glycoside hydrolase family 38, central domain|Glycoside hydrolase family 38, central domain;Glycoside hydrolase family 38, central domain|Glycoside hydrolase family 38, central domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	789.98	33	chr4	6598201	.	C	A	789.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.812e+00;DP=752;ExcessHet=0.0000;FS=1.975;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=-4.550e-01;SOR=0.484	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1135	20	0	1	0
chr4	6605319	6605319	A	G	exonic	MAN2B2	.	nonsynonymous SNV	MAN2B2:NM_001292038:exon11:c.A1651G:p.I551V	.	.	423	1083	15	1	0	17	0.00778745	.	.	2822392	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.48	T	0.27	B	0.09	B	0.001	N	0.990	D	1.05	L	-1.47	T	-0.984	T	0.113	T	0.163	1.520	11.03	0.622	-0.120	2.522	7.555	0.154	.	0.0091	0.00499201	0.0077	0.0016	0.0065	0	0.0023	0.0120	0.0057	0.0011	0.0077813	1203	154602	rs144650979	0.0094	0.0094	0.0096	0.0093	0.0112	0.0093	0.0092	0.0110	0.0110	0.0013	0.0074	0.0026	2.53e-05	0.0032	0.0063	0.0112	0.0095	0.0009	0.0075	0.0075	0.0083	0.0066	0.0119	0.0071	0.0070	0.0112	0.0110	0.0020	0.0263	0.0099	0.0023	0.0002	0.0028	0.0068	0.0119	0.0123	0.0002	0.111	0.29029	T	0.071	0.43531	T	0.27	0.31762	B	0.09	0.29851	B	0.000761	0.41888	N	0.234730	0.990054	0.41078	D	0.955	0.23872	L	-1.47	0.81067	T	-0.74	0.20791	N	0.111	0.13341	-0.9836	0.34164	T	0.113	0.40238	T	10	0.0066870153	0.00152	T	.	.	.	0.154	0.40340	.	.	0.466991082792	0.46324	0.3733498616961238	0.37248	0.119050824519	0.13409	0.351123154163	0.18087	T	0.081218	0.36545	T	-0.39365	0.02548	T	-0.325903	0.41923	T	0.00872580814296442	0.00107	T	0.656934	0.26653	T	0.023538275	0.01101	0.040781256	0.04486	0.023538275	0.01101	0.040781256	0.04486	-4.285	0.27966	T	.	.	0.092	0.13969	B	.;.	.;.	0.753606	0.11232	7.864	0.93925048968883906	0.23970	0.63510	0.32112	D	AEFDBHCI	0.172032	0.29904	N	-0.686962103285726	0.16392	0.8347589	-0.597490105363637	0.19558	1.049898	0.00447346563001248	0.10576	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.46	0.622	0.16822	2.600000	0.45904	-0.622000	0.08169	-0.274000	0.06627	1.000000	0.71638	0.000000	0.08366	0.831000	0.39176	0.7377:0.0:0.2623:0.0	7.555	0.26986	976	0.04745	Glycosyl hydrolase family 38, C-terminal;Glycosyl hydrolase family 38, C-terminal	.	.	MAN2B2	Stomach	rs144650979	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	301.98	39	chr4	6605319	.	A	G	301.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.650e-01;DP=802;ExcessHet=0.0000;FS=1.729;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.95;ReadPosRankSum=-1.109e+00;SOR=0.330	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	20	0	1	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.01	B	0.01	B	0.003	N	0.997	D	1.87	L	.	.	-0.870	T	0.178	T	0.274	3.086	16.31	1.7	0.426	3.325	6.857	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	7325.55	151	chr4	6862306	.	T	C	7325.55	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.348e+00;DP=3019;ExcessHet=54.0936;FS=242.021;InbreedingCoeff=-0.9914;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.50;ReadPosRankSum=0.996;SOR=13.535	GT:AD:DP:GQ:PL	0/1:100,40:140:99:439,0,2177	0	0	21	0
chr4	7061167	7061167	C	T	exonic	GRPEL1	.	nonsynonymous SNV	GRPEL1:NM_025196:exon4:c.G349A:p.V117I,	.	.	431	1089	2	0	0	2	0.000917431	.	.	2822397	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.33	T	0.002	B	0.005	B	0.000	N	0.846	N	-0.645	N	.	.	-1.051	T	0.024	T	0.089	-0.666	1.084	3.29	0.448	3.112	8.392	0.194	0.00215472065373	0.0028	0.00219649	0.0010	0.0077	0.0003	0.0013	0	0.0004	0	6.426e-05	0.0008797	136	154602	rs146608974	0.0005	0.0005	0.0005	0.0004	0.0093	0.0004	0.0004	0.0084	0.0081	0.0093	0.0005	0.0052	0.0008	0	0.0002	7.915e-05	0.0010	0.0002	0.0024	0.0024	0.0024	0.0023	0.0079	0.0022	0.0021	0.0072	0.0069	0.0079	0	0.0006	0.0026	0.0008	0	0	8.819e-05	0.0028	0	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.005	0.11217	B	0.000002	0.62929	N	0.099846	0.845621	0.28569	N	-0.78	0.01655	N	.	.	.	0.4	0.03463	N	0.047	0.01911	-1.0507	0.14203	T	0.024	0.10419	T	9	0.011043102	0.00243	T	0.002155	0.04016	T	0.194	0.47447	.	.	0.123314135267	0.11883	0.18344846698503278	0.18263	0.183386769954	0.20629	0.313295125961	0.12405	T	0.008995	0.08221	T	-0.557441	0.00263	T	-0.567529	0.15677	T	0.000377325581395349	0.00003	T	0.714629	0.32694	T	0.02086908	0.00663	0.027620196	0.00929	0.02086908	0.00662	0.027620196	0.00928	-0.927	0.00922	T	.	.	0.078	0.06849	B	.	.	1.064295	0.14465	11.03	0.72926837353344776	0.10145	0.58623	0.30692	D	AEFGBCI	0.035441	0.04561	N	-0.771954297293717	0.14044	0.6964602	-0.570176307906574	0.20272	1.091452	0.999906993208208	0.45458	0.719381	0.83141	0	0.702456	0.74545	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.65	3.29	0.36801	3.137000	0.50257	0.668000	0.20568	-0.185000	0.09859	1.000000	0.71638	1.000000	0.68203	0.828000	0.39026	0.0:0.2269:0.0:0.7731	8.392	0.31691	872	0.31118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1993.98	33	chr4	7061167	.	C	T	1993.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=834;ExcessHet=0.0000;FS=2.053;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.29;ReadPosRankSum=-9.170e-01;SOR=0.919	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1326	20	0	1	0
chr4	7192956	7192956	C	G	exonic	SORCS2	.	nonsynonymous SNV	SORCS2:NM_020777:exon1:c.C310G:p.P104A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	T	0.001	B	0.0	B	0.521	N	1.000	N	1.1	L	2.63	T	-0.959	T	0.024	T	0.121	0.371	6.015	2.36	1.722	-0.052	5.096	0.064	0.0423510533335	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.362e-07	6.84e-07	1.632e-06	0	1.009e-06	0	0	.	.	0	0	0	0	0	0	1.009e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.12511	T	0.808	0.03968	T	0.001	0.07471	B	0.0	0.01387	B	0.521500	0.05205	N	4.110080	1	0.08975	N	0	0.06538	N	2.63	0.12884	T	-0.6	0.17834	N	0.141	0.14054	-0.9585	0.39461	T	0.024	0.10329	T	10	0.064643115	0.08604	T	0.042351	0.60420	D	0.064	0.18567	0.193	0.10437	0.251639045875	0.24756	0.13872086314199977	0.13795	1.79847734347	0.91603	0.770042002201	0.77431	T	0.003379	0.02788	T	-0.341709	0.05270	T	-0.728618	0.04390	T	0.0702445169975531	0.08685	T	0.377362	0.09032	T	0.053338576	0.10078	0.077946186	0.17413	0.053338576	0.10078	0.077946186	0.17412	-4.018	0.24072	T	.	.	0.062	0.01197	B	.	.	1.462623	0.18854	13.96	0.89422869294878937	0.18783	0.03896	0.09272	N	AEFDBHCI	0.021067	0.00898	N	-1.03770124081369	0.07831	0.3651266	-1.04857870003191	0.08737	0.4310187	0.99999935140306	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	3.34	2.36	0.28258	-0.228000	0.09119	1.122000	0.24252	0.419000	0.20781	0.000000	0.06391	1.000000	0.68203	0.032000	0.13371	0.2521:0.5383:0.2096:0.0	5.096	0.14069	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	541.98	28	chr4	7192956	.	C	G	541.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.668;DP=646;ExcessHet=0.0000;FS=5.447;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.49;ReadPosRankSum=-8.950e-01;SOR=0.195	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,1041	20	0	1	0
chr4	7193083	7193083	C	G	exonic	SORCS2	.	nonsynonymous SNV	SORCS2:NM_020777:exon1:c.C437G:p.T146R,	.	.	418	1099	5	0	0	5	0.00226963	.	.	2360995	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.988	D	0.781	P	.	.	1.000	D	1.245	L	1.95	T	-1.128	T	0.068	T	0.36	3.059	16.21	3.88	1.716	2.903	9.417	0.119	0.484258923036	.	0.000199681	0.0003	0	0.0007	0	0	0.0001	0	0.0012	0.0001358	21	154602	rs558449809	0.0001	0.0001	9.46e-05	0.0002	0.0009	0.0001	0.0001	0.0007	0.0007	3.354e-05	0.0003	0	0	0	0.0004	8.219e-05	0.0002	0.0009	0.0002	0.0002	0.0002	0.0003	0.0012	0.0002	0.0001	0.0008	0.0006	4.811e-05	0	0.0012	0	0	0	0	0.0001	0.0005	0.0008	0.012	0.54683	D	0.017	0.60337	D	0.988	0.62325	D	0.781	0.57337	P	.	.	.	.	0.973567	0.39034	D	1.59	0.40313	L	1.95	0.22474	T	-1.53	0.37178	N	0.175	0.18784	-1.1283	0.01865	T	0.068	0.27845	T	9	0.06800559	0.09557	T	0.484259	0.94893	D	0.119	0.33137	.	.	0.680186721519	0.67746	0.37767319533967264	0.37682	0.432164153585	0.43397	0.918384432793	0.98198	D	0.008714	0.07985	T	-0.399525	0.02332	T	-0.432171	0.29690	T	0.496945381164551	0.32518	T	0.80032	0.44603	T	0.23133607	0.45903	0.377693	0.62863	0.23133607	0.45903	0.377693	0.62863	-14.21	0.93718	D	.	.	0.590	0.68470	P	.	.	4.134838	0.61910	24.4	0.98771779273222993	0.45986	0.74224	0.36307	D	AEFDBCI	0.299431	0.40849	N	0.292352461185745	0.55761	3.740162	0.259828042500006	0.53211	3.491134	0.999999995935469	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	3.88	3.88	0.43959	2.617000	0.46049	7.097000	0.57524	0.441000	0.21086	0.020000	0.19661	1.000000	0.68203	0.991000	0.66497	0.0:0.8908:0.0:0.1092	9.417	0.37693	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1253.98	34	chr4	7193083	.	C	G	1253.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.470;DP=788;ExcessHet=0.0000;FS=0.760;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=-5.430e-01;SOR=0.598	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1044	20	0	1	0
chr4	7434284	7434284	C	T	exonic	PSAPL1	.	nonsynonymous SNV	PSAPL1:NM_001085382:exon1:c.G596A:p.R199Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.006	B	0.0	B	.	.	1.000	N	1.7	L	-0.26	T	-0.915	T	0.199	T	0.027	1.405	10.63	-2.78	-0.549	-0.130	9.153	0.065	0.00816420900877	0.0002	0.000399361	0.0002	0.0002	9.513e-05	0.0001	0	9.856e-05	0	0.0006	0.0001423	22	154602	rs201914640	8.49e-05	8.551e-05	5.45e-05	0.0001	0.0007	7.215e-05	6.802e-05	0.0005	0.0005	0	0	3.828e-05	2.52e-05	0.0001	0.0003	4.947e-05	3.314e-05	0.0007	4.594e-05	4.593e-05	5.138e-05	4.026e-05	0.0006	2.107e-05	1.525e-05	0.0002	8.992e-05	4.809e-05	0	6.533e-05	0	0	0	0	1.47e-05	0	0.0006	0.106	0.29688	T	0.44	0.13328	T	0.006	0.13644	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	-0.26	0.67187	T	-1.54	0.37375	N	0.044	0.01658	-0.9148	0.46246	T	0.199	0.55428	T	9	0.015075266	0.00316	T	0.008164	0.21623	T	0.065	0.18881	.	.	0.243398259712	0.23965	0.29679104876149787	0.29592	0.0282787632889	0.02904	0.26060166955	0.04963	T	0.006162	0.05598	T	-0.557134	0.00264	T	-0.680577	0.06948	T	0.0058777065342926	0.00064	T	0.351965	0.07883	T	0.03715103	0.04707	0.044231616	0.05683	0.03715103	0.04707	0.044231616	0.05683	-3.164	0.12046	T	.	.	0.067	0.02518	B	.	.	0.628836	0.09975	6.728	0.92402171228265961	0.21815	0.01007	0.03804	N	AEFBI	0.034806	0.04376	N	-1.35193499269304	0.03105	0.138168	-1.45968237978319	0.02684	0.1238862	0.969912602143163	0.29166	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.61	-2.78	0.05512	-0.302000	0.08259	-0.636000	0.08101	-1.560000	0.00949	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3005:0.0:0.6995	9.153	0.36140	994	0.00715	Saposin B type domain|Saposin B type domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1999.98	70	chr4	7434284	.	C	T	1999.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=2046;ExcessHet=0.0000;FS=5.192;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=-1.930e-01;SOR=1.045	GT:AD:DP:GQ:PL	0/0:162,0:162:99:0,120,1800	20	0	1	0
chr4	7838592	7838592	T	C	exonic	AFAP1	.	nonsynonymous SNV	AFAP1:NM_001371090:exon5:c.A658G:p.T220A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.282	B	0.17	B	0.011	N	0.954	N	1.67	L	2.61	T	-1.052	T	0.032	T	0.104	2.251	13.49	3.18	0.735	1.491	6.074	0.074	0.00272488449021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.106	0.38450	T	0.282	0.32132	B	0.17	0.35299	B	0.010893	0.29744	N	0.382449	0.954039	0.26383	N	1.485	0.37223	L	2.61	0.13095	T	-1.91	0.44471	N	0.312	0.41063	-1.0520	0.13845	T	0.032	0.13942	T	10	0.19347855	0.35119	T	0.002725	0.05608	T	0.074	0.21613	0.552	0.66856	0.17948927462	0.17512	0.15503540767068102	0.15424	0.097110365055	0.10970	0.512639820576	0.40591	T	0.330546	0.70072	T	-0.273766	0.11340	T	-0.631022	0.10338	T	0.181670005007532	0.19340	T	0.79482	0.43725	T	0.08175725	0.18801	0.1029768	0.24694	0.08175725	0.18801	0.1029768	0.24694	-5.956	0.46762	T	.	.	0.076	0.06896	B	.;.;.;.	.;.;.;.	1.896223	0.24081	16.26	0.9734578609355371	0.33496	0.74100	0.36245	D	AEFDBHCI	0.081028	0.16390	N	-0.355583756544022	0.27067	1.482145	-0.326875673570454	0.27233	1.509752	0.99999985608968	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	4.37	3.18	0.35615	1.224000	0.32142	1.348000	0.25786	0.609000	0.47794	1.000000	0.71638	0.996000	0.32793	0.965000	0.52897	0.1532:0.0833:0.0:0.7635	6.074	0.19131	970	0.06235	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1488.98	33	chr4	7838592	.	T	C	1488.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.123;DP=781;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.35;ReadPosRankSum=0.487;SOR=0.643	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1369	20	0	1	0
chr4	7939481	7939481	C	T	exonic	LOC389199	.	nonsynonymous SNV	LOC389199:NM_203423:exon1:c.C316T:p.R106C,	.	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	.	.	.	.	-0.970	T	0.096	T	0.121	0.831	8.351	0.393	0.263	0.480	3.857	0.049	0.00760539530555	.	.	.	.	.	.	.	.	.	.	.	.	.	rs767410134	7.334e-05	4.93e-05	5.041e-05	8.841e-05	0.0031	4.028e-05	3.169e-05	0.0005	0.0002	0	0	0	0	0	0.0031	6.62e-05	0	8.674e-05	5.262e-05	5.251e-05	2.574e-05	8.073e-05	0.0004	2.56e-05	1.832e-05	7.29e-05	3.029e-05	4.816e-05	0	6.542e-05	0	0	0	0	4.417e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	293.98	38	chr4	7939481	.	C	T	293.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.749;DP=732;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.65;ReadPosRankSum=-2.100e-01;SOR=0.646	GT:AD:DP:GQ:PL	0/0:29,0:29:74:0,74,734	20	0	1	0
chr4	8029661	8029661	C	T	exonic	ABLIM2	.	nonsynonymous SNV	ABLIM2:NM_001286688:exon7:c.G467A:p.R156H	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.002	N	1.000	N	2.6	M	0.84	T	-0.486	T	0.382	T	0.505	4.506	24.2	4.64	2.128	4.787	17.512	0.230	0.040815550353	8.4e-05	.	0.0001	0	0	0	0	0.0002	0	0.0001	2.59e-05	4	154602	rs377709298	9.672e-05	9.645e-05	9.384e-05	9.968e-05	0.0005	8.325e-05	7.771e-05	0.0001	8.859e-05	0	0	0	0	0	0.0005	0.0001	8.724e-05	8.98e-05	0.0001	0.0001	0.0002	6.806e-05	0.0002	7.155e-05	5.8e-05	5.85e-05	4.245e-05	2.439e-05	0.0066	6.595e-05	0	0	0	0	0.0001	0	0.0002	0.073	0.78490	T	0.009	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.001522	0.38731	N	0.199391	0.999889	0.50402	D	3.245	0.89746	M	0.84	0.54149	T	-4.35	0.81107	D	0.542	0.72120	-0.4858	0.69158	T	0.382	0.73862	T	10	0.25787663	0.43209	T	0.040816	0.59586	D	0.230	0.53062	.	.	0.537605644208	0.53412	0.5936082762595105	0.59290	0.353181267281	0.37131	0.807459354401	0.83103	D	0.254649	0.62533	T	-0.126444	0.32073	T	-0.193703	0.55242	T	0.916919708251953	0.57453	D	0.886911	0.93342	D	0.41349077	0.61656	0.32711694	0.58612	0.41349077	0.61656	0.32711694	0.58611	-10.035	0.78884	D	.	.	0.139	0.49028	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.486457	0.91438	32	0.99959618424726249	0.99994	0.93642	0.58778	D	AEFBI	0.822369	0.74271	D	0.700101232661928	0.79638	7.120269	0.635729409607025	0.77551	6.70142	0.999999998115371	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.586402	0.36253	0	.	.	4.64	4.64	0.57399	5.047000	0.64042	3.805000	0.39885	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.970000	0.54328	0.0:1.0:0.0:0.0	17.512	0.87658	988	0.01987	.;.;.;Putative adherens-junction anchoring domain;.;.;Putative adherens-junction anchoring domain;.;.;Putative adherens-junction anchoring domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	574.98	43	chr4	8029661	.	C	T	574.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=823;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=0.414;SOR=0.906	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1177	20	0	1	0
chr4	8214523	8214532	GTGGTGACGT	-	exonic	SH3TC1	.	frameshift deletion	SH3TC1:NM_001318480:exon5:c.196_205del:p.V66Lfs*54	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1205.94	34	chr4	8214522	.	CGTGGTGACGT	C	1205.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=831;ExcessHet=0.0000;FS=1.578;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.28;ReadPosRankSum=-7.580e-01;SOR=0.927	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,116,1420	20	0	1	0
chr4	8214523	8214523	G	A	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon5:c.G196A:p.V66M	.	.	429	1090	3	0	0	3	0.00137426	.	.	3318184	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.99	D	0.757	P	0.054	N	1.000	N	1.445	L	-1.18	T	-0.593	T	0.393	T	0.336	3.466	17.75	2.52	0.425	0.728	5.239	0.281	0.0237374566327	7.7e-05	.	7.426e-05	0	0	0	0	0.0001	0	6.058e-05	8.41e-05	13	154602	rs200132766	8.688e-05	8.687e-05	7.896e-05	9.489e-05	0.0047	7.421e-05	6.97e-05	0.0033	0.0028	0.0003	0.0003	0	0	0	0.0047	5.756e-05	0.0002	3.478e-05	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0006	0.0005	2.406e-05	0	0.0010	0	0	0	0	7.351e-05	0.0014	0.0004	0.017	0.51248	D	0.033	0.53072	D	0.99	0.63424	D	0.757	0.56292	P	0.053720	0.22785	N	0.371121	0.991322	0.24050	N	2.34	0.67151	M	-1.22	0.78752	T	-1.24	0.31778	N	0.403	0.44379	-0.5926	0.65117	T	0.393	0.74685	T	10	0.13891798	0.26417	T	0.023737	0.46713	T	0.281	0.59861	.	.	0.637288232684	0.63431	0.26691754370024334	0.26604	0.0512075118454	0.05634	0.715992033482	0.69463	T	0.065852	0.32796	T	-0.21003	0.19374	T	-0.237748	0.51019	T	0.0863715158960548	0.10782	T	0.805419	0.45334	T	0.0729317	0.16260	0.079522744	0.17908	0.0729317	0.16260	0.079522744	0.17908	-8.515	0.64528	D	.	.	0.098	0.23848	B	.;.	.;.	2.912210	0.38636	20.8	0.99873951637034364	0.95160	0.38362	0.25971	N	AEFGBCI	0.082931	0.16796	N	0.116318572554302	0.47225	2.951119	0.0428579711456983	0.41729	2.511808	0.995610432670052	0.34224	0.67177	0.52595	0	0.702456	0.74545	0	0.576033	0.28219	0	0.711	0.71501	0	.	.	4.32	2.52	0.29514	0.377000	0.20282	0.386000	0.17834	0.672000	0.70159	0.218000	0.24513	0.016000	0.20520	0.995000	0.73285	0.1899:0.1717:0.6384:0.0	5.239	0.14782	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1301.06	34	chr4	8214523	.	G	A,*	1301.06	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.612;DP=926;ExcessHet=0.1072;FS=3.656;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=5.23;ReadPosRankSum=-1.427e+00;SOR=0.828	GT:AD:DP:GQ:PL	0/0:39,0,0:39:99:0,116,1420,116,1420,1420	19	0	1	0
chr4	8214523	8214523	G	0	exonic	SH3TC1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1301.06	34	chr4	8214523	.	G	A,*	1301.06	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.612;DP=926;ExcessHet=0.1072;FS=3.656;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=5.23;ReadPosRankSum=-1.427e+00;SOR=0.828	GT:AD:DP:GQ:PL	0/0:39,0,0:39:99:0,116,1420,116,1420,1420	19	0	1	0
chr4	8227486	8227486	T	C	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon12:c.T1564C:p.F522L	.	.	397	1121	4	0	0	4	0.00178094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.022	B	0.022	B	0.236	N	1.000	N	1.175	L	0.05	T	-1.017	T	0.126	T	0.202	-0.585	1.374	1.41	0.129	1.608	5.733	0.072	0.0257577058946	0.0007	0.000199681	0.0005	0	0.0004	0	0	0.0007	0.0013	0.0001	0.0004786	74	154602	rs146105309	0.0005	0.0005	0.0004	0.0005	0.0239	0.0004	0.0004	0.0206	0.0194	0.0004	0.0005	0.0122	0	0	0.0239	0.0001	0.0012	3.876e-05	0.0007	0.0007	0.0007	0.0008	0.0024	0.0006	0.0006	0.0017	0.0015	0.0002	0	0.0024	0.0104	0	0	0.0068	0.0003	0.0019	0.0008	0.645	0.04928	T	0.621	0.07419	T	0.022	0.18677	B	0.022	0.19653	B	0.235970	0.15817	N	0.662296	1	0.08975	N	1.725	0.44537	L	0.05	0.61923	T	-2.11	0.48020	N	0.173	0.18512	-1.0166	0.24819	T	0.126	0.43194	T	10	0.0074889064	0.00170	T	0.025758	0.48712	D	0.072	0.21020	0.532	0.64002	0.434825671192	0.43100	0.16459802777303673	0.16379	0.030042904158	0.03099	0.583178520203	0.50533	T	0.006265	0.05696	T	-0.352976	0.04543	T	-0.428646	0.30089	T	0.0129742181183722	0.00225	T	0.651635	0.26249	T	0.071747236	0.15907	0.06976249	0.14741	0.071747236	0.15907	0.06976249	0.14740	-8.072	0.61560	D	.	.	0.538	0.66286	A	.	.	0.957641	0.13342	9.844	0.65296955756202024	0.07733	0.17998	0.20076	N	AEFDBCI	0.114487	0.22547	N	-0.882751606797281	0.11253	0.5420424	-0.876736388918016	0.12646	0.651722	0.99996562747028	0.48965	0.722319	0.85440	0	0.698795	0.70079	0	0.576033	0.28219	0	0.711	0.71501	0	.	.	4.47	1.41	0.21461	1.207000	0.31938	-0.744000	0.07606	0.578000	0.29377	0.011000	0.18532	0.000000	0.08366	0.074000	0.16894	0.0:0.1085:0.1637:0.7278	5.733	0.17322	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1038.98	44	chr4	8227486	.	T	C	1038.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.200e-01;DP=1073;ExcessHet=0.0000;FS=0.721;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.19;ReadPosRankSum=-4.980e-01;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,111,1665	20	0	1	0
chr4	8228514	8228514	G	T	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon12:c.G2592T:p.E864D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.007	B	0.026	B	0.921	N	0.809	N	0.935	L	-0.05	T	-1.002	T	0.164	T	0.143	0.433	6.352	3.21	0.911	-0.018	13.650	0.080	0.00395228342147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-06	2.052e-06	1.364e-06	1.378e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	0.14159	T	0.416	0.14284	T	0.007	0.14184	B	0.026	0.20792	B	0.920735	0.08489	N	0.963342	1	0.08975	N	1.375	0.34280	L	-0.05	0.63403	T	-0.89	0.24026	N	0.171	0.18239	-1.0024	0.29226	T	0.164	0.50078	T	10	0.1215803	0.23050	T	0.003952	0.09337	T	0.080	0.23350	0.487	0.57098	0.606697734199	0.60354	0.15495340116045203	0.15416	0.0259321086645	0.02646	0.345671653748	0.17283	T	0.002077	0.01480	T	-0.167851	0.25559	T	-0.478883	0.24565	T	0.0760370269417763	0.09472	T	0.651635	0.26249	T	0.055627692	0.10837	0.048025053	0.07045	0.055627692	0.10837	0.048025053	0.07044	-4.539	0.31395	T	.	.	0.105	0.19398	B	.	.	0.675499	0.10439	7.160	0.9735323569782447	0.33534	0.06720	0.12741	N	ALL	0.165100	0.29156	N	-0.820226127721544	0.12795	0.6259518	-0.785001865011242	0.14862	0.7787987	0.999999999999962	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.056198	0.00348	3	0.756233	0.99697	0	.	.	4.06	3.21	0.35933	0.089000	0.14843	0.490000	0.18893	0.676000	0.76740	0.015000	0.19116	0.003000	0.18671	0.657000	0.32885	0.0:0.3157:0.6843:0.0	13.650	0.61777	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	804.98	39	chr4	8228514	.	G	T	804.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.137;DP=1054;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.37;ReadPosRankSum=-7.460e-01;SOR=0.588	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:47,0:47:99:.:.:0,120,1800	20	0	1	0
chr4	8233493	8233493	C	A	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon14:c.C3034A:p.L1012M	.	.	426	1063	30	3	0	36	0.0166512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.997	D	0.009	N	1.000	D	2.31	M	-1.06	T	0.031	D	0.482	T	0.472	2.773	15.24	2.52	1.846	3.280	11.389	0.562	.	0.0067	0.00359425	0.0063	0.0017	0.0062	0	0.0056	0.0080	0.0105	0.0052	0.0061254	947	154602	rs111285143	0.0075	0.0075	0.0076	0.0075	0.0182	0.0074	0.0074	0.0153	0.0142	0.0021	0.0064	0.0197	0	0.0033	0.0182	0.0081	0.0092	0.0042	0.0061	0.0061	0.0061	0.0061	0.0083	0.0058	0.0056	0.0077	0.0075	0.0017	0.0011	0.0083	0.0204	0	0.0048	0.0442	0.0083	0.0080	0.0037	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.009500	0.30337	N	0.214876	0.984639	0.40172	D	3.07	0.87108	M	-1.06	0.76819	T	-1.77	0.41809	N	0.562	0.58629	0.031	0.82878	D	0.482	0.80240	T	10	0.00982511	0.00221	T	.	.	.	0.562	0.82061	.	.	0.66790570697	0.66510	0.48965828362288266	0.48885	0.205887312537	0.23014	0.611424803734	0.54517	T	0.061114	0.31566	T	-0.247542	0.14401	T	-0.123508	0.61512	T	0.0373146239023212	0.03211	T	0.834417	0.50357	T	0.24364713	0.47305	0.19951475	0.43837	0.24364713	0.47305	0.19951475	0.43836	-8.123	0.61906	D	.	.	0.342	0.56011	A	.	.	3.625542	0.51325	23.1	0.99607614849214077	0.74575	0.85457	0.44591	D	AEFGBCI	0.562189	0.56988	D	0.462205096856012	0.64898	4.75514	0.345910970456002	0.58262	3.995731	0.999996743542569	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.711	0.71501	0	.	.	3.49	2.52	0.29514	3.509000	0.53143	3.098000	0.36308	0.576000	0.29215	1.000000	0.71638	1.000000	0.68203	0.736000	0.35301	0.0:0.8912:0.0:0.1088	11.389	0.49045	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1628.98	94	chr4	8233493	.	C	A	1628.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.410e-01;DP=784;ExcessHet=0.0000;FS=0.838;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.33;ReadPosRankSum=1.06;SOR=0.852	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1490	20	0	1	0
chr4	8233514	8233514	G	A	splicing	SH3TC1	NM_018986:exon14:c.3282+1G>A;NM_001318480:exon14:c.3054+1G>A	.	.	.	.	425	1070	26	1	0	28	0.0129151	1.0000	0.926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.602	18.34	3.49	1.846	8.802	15.367	.	.	0.0044	0.00239617	0.0057	0.0009	0.0057	0	0.0011	0.0066	0.0048	0.0107	0.0052005	804	154602	rs62286463	0.0060	0.0060	0.0059	0.0061	0.0153	0.0059	0.0059	0.0126	0.0116	0.0014	0.0043	0.0150	0	0.0014	0.0153	0.0059	0.0078	0.0108	0.0040	0.0040	0.0041	0.0039	0.0108	0.0037	0.0036	0.0084	0.0076	0.0008	0.0143	0.0031	0.0121	0	0.0008	0.0136	0.0059	0.0057	0.0108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0158123	0.49447	T	0.212472	0.83792	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.165318	0.86564	28.9	0.99380838904050006	0.61891	0.98041	0.79102	D	AEFGBCI	.	.	.	1.0172895395832	0.96252	14.47503	0.801970913417976	0.89929	10.18212	0.999999999999901	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.060301	0.00762	0	0.195515	0.04268	0	0.887185	0.55460	3.49	3.49	0.39065	9.134000	0.93746	7.080000	0.57469	0.629000	0.51854	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:1.0:0.0	15.367	0.74244	988	0.01987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1241.98	39	chr4	8233514	.	G	A	1241.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.263e+00;DP=787;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.65;ReadPosRankSum=0.914;SOR=0.687	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1490	20	0	1	0
chr4	8237515	8237515	G	A	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon17:c.G3370A:p.A1124T	.	.	413	1105	4	0	0	4	0.00180668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.014	B	0.006	B	0.994	N	1.000	N	-0.405	N	-0.97	T	-0.978	T	0.118	T	0.217	-0.544	1.531	-1.18	-0.183	-0.337	10.040	0.111	0.00918524207338	0.0008	0.000599042	0.0007	0	0.0007	0	0	0.0010	0.0017	0.0003	0.0005239	81	154602	rs149203434	0.0005	0.0005	0.0005	0.0005	0.0191	0.0005	0.0005	0.0161	0.0149	0.0003	0.0008	0.0130	5.096e-05	0	0.0191	0.0001	0.0014	0.0001	0.0007	0.0007	0.0006	0.0007	0.0025	0.0006	0.0005	0.0019	0.0016	0.0001	0	0.0025	0.0104	0	0	0.0068	0.0002	0.0019	0.0006	1.0	0.00964	T	0.781	0.04316	T	0.014	0.16867	B	0.006	0.12133	B	0.994193	0.07922	N	1.002860	1	0.08975	N	-0.075	0.04822	N	-1.01	0.76168	T	0.99	0.01428	N	0.139	0.13769	-0.9781	0.35435	T	0.118	0.41407	T	10	0.0046999454	0.00099	T	0.009185	0.24130	T	0.111	0.31313	.	.	0.395143324098	0.39128	0.06861941220652927	0.06799	0.0283681979024	0.02914	0.35799908638	0.19094	T	8.03E-4	0.00390	T	-0.382824	0.02990	T	-0.449284	0.27775	T	0.0117859446057927	0.00182	T	0.70183	0.31167	T	0.02138212	0.00737	0.05477785	0.09486	0.02138212	0.00737	0.05477785	0.09485	-4.85	0.35168	T	.	.	0.070	0.03625	B	.	.	0.608785	0.09770	6.539	0.82643270396600221	0.14299	0.08830	0.14700	N	AEFBCI	0.083049	0.16822	N	-1.29142965012314	0.03778	0.1693634	-1.1793929219866	0.06255	0.3005019	0.999709741529201	0.41986	0.67177	0.52595	0	0.697927	0.68747	0	0.576033	0.28219	0	0.711	0.71501	0	.	.	4.32	-1.18	0.09122	-0.553000	0.06104	-2.370000	0.03839	-0.264000	0.06851	0.000000	0.06391	0.000000	0.08366	0.388000	0.26514	0.4928:0.0:0.5072:0.0	10.040	0.41323	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1465.98	35	chr4	8237515	.	G	A	1465.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.163e+00;DP=832;ExcessHet=0.0000;FS=1.728;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.76;ReadPosRankSum=-1.060e+00;SOR=0.945	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1339	20	0	1	0
chr4	8291466	8291466	G	A	exonic	HTRA3	.	nonsynonymous SNV	HTRA3:NM_001297559:exon4:c.G805A:p.V269M	.	.	408	1098	16	0	0	16	0.00723327	.	.	2822419	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.99	D	0.000	U	1.000	D	2.34	M	-2.64	D	0.721	D	0.780	D	0.283	4.161	21.5	4.19	1.911	7.303	16.549	0.731	.	0.0099	0.00439297	0.0082	0.0012	0.0032	0	0.0066	0.0130	0.0135	0.0019	0.0085833	1327	154602	rs111620813	0.0100	0.0100	0.0101	0.0100	0.0106	0.0099	0.0098	0.0105	0.0104	0.0014	0.0057	0.0481	0	0.0083	0.0090	0.0106	0.0111	0.0014	0.0083	0.0083	0.0084	0.0082	0.0112	0.0079	0.0077	0.0105	0.0102	0.0015	0.0241	0.0088	0.0490	0	0.0078	0.0068	0.0112	0.0104	0.0012	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.99	0.78936	D	0.000001	0.84330	U	0.000000	1	0.81001	D	2.36	0.67893	M	-2.64	0.90147	D	-2.73	0.58085	D	0.84	0.83678	0.721	0.93432	D	0.780	0.92512	D	10	0.017561316	0.00376	T	.	.	.	0.731	0.90589	.	.	0.941047437047	0.94043	0.740400631892179	0.73985	0.858628955192	0.68869	0.88312792778	0.94378	D	0.720854	0.92110	D	-0.219818	0.18017	T	-0.078142	0.65041	T	0.0263363693481378	0.01451	T	0.880212	0.59782	D	0.772048	0.82171	0.6876555	0.81628	0.772048	0.82172	0.6876555	0.81629	-10.308	0.79532	D	.	.	0.849	0.82593	P	.;.	.;.	4.707669	0.75589	26.4	0.99896376243441309	0.96895	0.97326	0.74046	D	AEFDBI	0.925113	0.90416	D	0.628621912607215	0.74992	6.227842	0.543227703696764	0.70928	5.577823	0.99999999521474	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.19	4.19	0.48645	9.302000	0.95261	8.349000	0.77009	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.065000	0.16320	0.0:0.0:1.0:0.0	16.549	0.84312	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1975.11	34	chr4	8291466	.	G	A	1975.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.42;DP=835;ExcessHet=0.1072;FS=1.186;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=-1.177e+00;SOR=0.803	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1205	19	0	2	0
chr4	8302499	8302499	C	T	exonic	HTRA3	.	nonsynonymous SNV	HTRA3:NM_053044:exon7:c.C1088T:p.T363M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.977	D	0.000	D	1.000	D	3.165	M	2.0	T	-0.620	T	0.174	T	0.761	3.414	17.54	3.68	1.619	5.721	13.215	0.381	.	7.7e-05	0.000798722	0.0005	9.617e-05	0	0	0	0.0002	0	0.0029	0.0004269	66	154602	rs377229386	0.0002	0.0002	0.0001	0.0004	0.0037	0.0002	0.0002	0.0034	0.0032	0	0	0	2.519e-05	0	0	2.428e-05	0.0002	0.0037	0.0001	0.0001	6.426e-05	0.0002	0.0035	9.147e-05	7.703e-05	0.0022	0.0018	4.816e-05	0	0	0	0.0002	0	0	1.47e-05	0	0.0035	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.08	0.57402	M	2.0	0.21473	T	-3.3	0.65858	D	0.776	0.77319	-0.6203	0.63976	T	0.174	0.51753	T	10	0.08578205	0.14516	T	.	.	.	0.381	0.69863	.	.	0.563505421885	0.56014	0.7886034251372002	0.78812	0.888811034104	0.70124	0.724115729332	0.70647	T	0.259794	0.63110	T	-0.244935	0.14726	T	-0.128287	0.61115	T	0.50348162651062	0.32757	D	0.885811	0.61165	D	0.4126436	0.61599	0.3445055	0.60147	0.4126436	0.61599	0.3445055	0.60146	-9.681	0.71980	D	.	.	0.249	0.48417	B	.	.	4.848548	0.79229	27.1	0.99894585086333076	0.96819	0.95365	0.64436	D	AEFDBI	0.812407	0.73515	D	0.63778480094902	0.75580	6.331206	0.501348175916973	0.68081	5.171142	0.999999999965697	0.74766	0.695654	0.57023	0	0.573888	0.26702	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	3.68	3.68	0.41359	6.144000	0.71525	7.352000	0.58300	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.463000	0.28185	0.0:1.0:0.0:0.0	13.215	0.59277	988	0.01987	PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1604.98	35	chr4	8302499	.	C	T	1604.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.198;DP=947;ExcessHet=0.0000;FS=1.234;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.61;ReadPosRankSum=-4.960e-01;SOR=0.837	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr4	8441412	8441412	C	G	exonic	TRMT44	.	nonsynonymous SNV	TRMT44:NM_152544:exon1:c.C590G:p.T197R,	.	.	427	1009	83	3	0	89	0.0422402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	.	.	.	.	0.122	N	1.000	N	0.55	N	2.2	T	-1.011	T	0.027	T	0.287	0.850	8.439	1.29	0.110	0.256	7.467	0.019	.	.	0.00858626	0.0287	0.0080	0.0065	0.0058	0.0031	0.0195	0.0260	0.0450	0.0037839	585	154602	rs112997829	0.0105	0.0100	0.0098	0.0112	0.0346	0.0104	0.0103	0.0335	0.0331	0.0047	0.0060	0.0151	0.0001	0.0019	0.0304	0.0095	0.0109	0.0346	0.0085	0.0085	0.0080	0.0090	0.0288	0.0081	0.0080	0.0249	0.0234	0.0056	0.0493	0.0099	0.0127	0.0002	0.0012	0.0204	0.0094	0.0118	0.0288	0.447	0.09075	T	0.378	0.16086	T	.	.	.	.	.	.	0.121706	0.02731	N	1.885000	1	0.08975	N	0.955	0.23872	L	2.2	0.18570	T	-1.36	0.33798	N	0.043	0.01577	-1.0113	0.26510	T	0.027	0.11574	T	8	0.002782017	0.00044	T	.	.	.	0.028	0.06331	.	.	.	.	0.3895442264070437	0.38869	0.0237363171192	0.02403	0.470437943935	0.34740	T	0.006277	0.05717	T	-0.596178	0.00154	T	-0.604077	0.12471	T	0.00130142170890971	0.00013	T	0.359464	0.08250	T	0.03544278	0.04172	0.06397814	0.12754	0.03544278	0.04171	0.06397814	0.12754	-4.308	0.28288	T	.	.	0.087	0.11220	B	.	.	0.493478	0.08624	5.396	0.77617184845155829	0.11951	0.02881	0.07661	N	AEFDBCI	0.028691	0.02576	N	-0.716175274960565	0.15567	0.7856458	-0.836457000307403	0.13614	0.7071644	0.999956225536474	0.48110	0.542737	0.22433	0	0.484254	0.07192	0	0.685571	0.62057	0	0.627883	0.49187	0	.	.	4.1	1.29	0.20717	0.469000	0.21779	0.422000	0.18230	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.567:0.3378:0.0952	7.467	0.26500	949	0.11373	.	RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|ACOX3|RP11-774O3.3|RP11-774O3.3	Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Lung|Nerve_Tibial|Pancreas|Pituitary|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid	.	.	rs112997829	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1346.98	36	chr4	8441412	.	C	G	1346.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.331;DP=844;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=1.43;SOR=0.772	GT:AD:DP:GQ:PL	0/1:52,52:104:99:1361,0,1288	20	0	1	0
chr4	8475841	8475841	C	T	exonic	TRMT44	.	nonsynonymous SNV	TRMT44:NM_001350233:exon11:c.C1391T:p.A464V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.135	B	0.011	B	0.140	N	1.000	N	1.81	L	2.25	T	-0.999	T	0.034	T	0.09	1.793	11.95	2.63	0.227	0.433	6.502	0.031	0.00441609078812	.	0.00159744	0.0009	0	0	0	0	3e-05	0	0.0063	0.0007438	115	154602	rs571853951	0.0004	0.0004	0.0002	0.0006	0.0060	0.0004	0.0004	0.0056	0.0054	0	2.236e-05	0.0001	0	0	0.0003	2.698e-05	0.0004	0.0060	0.0002	0.0002	0.0001	0.0003	0.0058	0.0001	0.0001	0.0041	0.0036	0	0	0	0	0	0	0	1.47e-05	0	0.0058	0.295	0.14743	T	0.312	0.19599	T	0.135	0.27304	B	0.011	0.15521	B	0.140247	0.18315	N	0.528820	1	0.08975	N	1.605	0.40863	L	2.25	0.17761	T	-1.24	0.31375	N	0.043	0.01577	-0.9987	0.30283	T	0.034	0.14509	T	10	0.004200518	0.00084	T	0.004416	0.10781	T	0.031	0.07369	.	.	0.0482279557977	0.04254	0.23124681871890104	0.23039	0.0243839190157	0.02475	0.309274017811	0.11798	T	0.006379	0.05814	T	-0.652293	0.00070	T	-0.707554	0.05422	T	0.0242981679095647	0.01183	T	0.494051	0.15283	T	0.027809083	0.02027	0.03583002	0.02910	0.027809083	0.02027	0.03583002	0.02909	-4.489	0.30744	T	.	.	0.089	0.11989	B	.	.	0.413374	0.07843	4.538	0.98067752076030268	0.37999	0.05533	0.11426	N	AEFDBI	0.035034	0.04443	N	-0.788180795192711	0.13618	0.672135	-0.833665618112507	0.13681	0.711019	0.984160794603849	0.30674	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.32	2.63	0.30420	0.259000	0.18174	0.022000	0.13604	-0.189000	0.09497	0.001000	0.13787	0.018000	0.20648	0.001000	0.02609	0.0:0.6209:0.1362:0.2428	6.502	0.21371	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1389.98	33	chr4	8475841	.	C	T	1389.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.380;DP=868;ExcessHet=0.0000;FS=2.035;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.80;ReadPosRankSum=0.128;SOR=0.908	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1019	20	0	1	0
chr4	8604114	8604114	G	A	exonic	CPZ	.	nonsynonymous SNV	CPZ:NM_003652:exon3:c.G602A:p.S201N	.	.	422	1078	21	1	0	23	0.0105553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.988	D	0.585	P	0.000	D	1.000	D	2.03	M	2.71	T	-1.082	T	0.055	T	0.443	3.144	16.51	3.86	1.973	5.347	15.937	0.102	.	0.0007	0.000599042	0.0016	0.0002	0.0020	0.0002	0	0.0020	0.0119	0.0015	0.0010284	159	154602	rs143281934	0.0012	0.0012	0.0012	0.0012	0.0247	0.0012	0.0011	0.0214	0.0201	0.0008	0.0010	0.0005	2.557e-05	0	0.0247	0.0012	0.0026	0.0009	0.0009	0.0009	0.0009	0.0009	0.0016	0.0008	0.0007	0.0011	0.0010	0.0004	0	0.0016	0.0009	0	0	0.0136	0.0011	0.0052	0.0012	0.146	0.26519	T	0.137	0.36233	T	0.384	0.62325	B	0.175	0.50320	B	0.000000	0.84330	D	0.045184	0.999989	0.81001	D	2.325	0.66631	M	2.71	0.12055	T	-1.73	0.41046	N	0.717	0.77319	-1.0816	0.07041	T	0.055	0.23224	T	10	0.049276263	0.04494	T	.	.	.	0.102	0.29158	.	.	0.12205267543	0.11705	0.7750065254046804	0.77450	0.0119562494759	0.01133	0.662676036358	0.61792	T	0.053015	0.29325	T	-0.401507	0.02263	T	-0.384891	0.35148	T	0.196342617273331	0.20211	T	0.758124	0.38180	T	0.52383	0.68479	0.47627032	0.69653	0.52383	0.68480	0.47627032	0.69654	-9.192	0.68924	D	0.2593065449522952	0.35027	0.317	0.55978	B	.;.;.	.;.;.	3.651758	0.51831	23.2	0.99622072563463493	0.75473	0.81987	0.41287	D	AEFDBHCI	0.784555	0.71520	D	0.293067813208489	0.55797	3.743764	0.311107533820842	0.56190	3.782178	0.999999838434281	0.74766	0.718356	0.82227	0	0.547309	0.14657	0	0.570548	0.19454	0	0.613276	0.41899	0	.	.	3.86	3.86	0.43689	5.780000	0.68607	8.162000	0.76739	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:1.0:0.0	15.937	0.79512	982	0.03397	Peptidase M14, carboxypeptidase A|Metallocarboxypeptidase Z, carboxypeptidase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2378.11	34	chr4	8604114	.	G	A	2378.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.171;DP=994;ExcessHet=0.1072;FS=3.283;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=1.20;SOR=0.929	GT:AD:DP:GQ:PL	0/1:47,48:95:99:1191,0,1117	19	0	2	0
chr4	8612077	8612077	G	A	exonic	CPZ	.	nonsynonymous SNV	CPZ:NM_003652:exon7:c.G1245A:p.M415I	.	.	.	.	.	.	.	.	.	.	.	3245848	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.26	T	0.905	P	0.495	P	0.000	U	1.000	N	0.49	N	4.03	T	-1.037	T	0.019	T	0.385	0.809	8.252	4.19	2.056	0.369	6.522	0.093	0.00621327799994	7.7e-05	.	8.391e-05	0	0	0	0	0.0002	0	0	6.47e-05	10	154602	rs372498180	4.721e-05	4.72e-05	4.629e-05	4.814e-05	6.957e-05	3.794e-05	3.476e-05	4.092e-05	3.742e-05	0	6.711e-05	0	0	1.878e-05	0	5.216e-05	1.656e-05	6.957e-05	3.289e-05	3.283e-05	3.857e-05	2.693e-05	5.882e-05	1.262e-05	7.99e-06	1.973e-05	1.125e-05	2.417e-05	0	0	0	0	0	0	5.882e-05	0	0	0.375	0.17584	T	0.363	0.29540	T	0.797	0.49920	P	0.495	0.47504	P	0.000260	0.46924	U	0.186485	0.970054	0.26478	N	1.355	0.33814	L	4.03	0.03149	T	-1.41	0.34795	N	0.523	0.56662	-1.0368	0.18295	T	0.019	0.07893	T	10	0.22585219	0.39426	T	0.006213	0.16288	T	0.093	0.26882	0.566	0.68768	0.126345400529	0.12197	0.6772398649524226	0.67662	0.0058838960761	0.00512	0.638489961624	0.58349	T	0.031535	0.22084	T	-0.317133	0.07136	T	-0.488765	0.23519	T	0.112010814249516	0.13630	T	0.868913	0.59601	D	0.3028536	0.53159	0.27214602	0.53122	0.3028536	0.53159	0.27214602	0.53121	-7.344	0.58917	T	0.1422246703628874	0.16066	0.312	0.53951	B	.;.;.	.;.;.	3.781369	0.54376	23.5	0.97640193863092029	0.35074	0.42783	0.26954	N	AEFBCI	0.177074	0.30430	N	-0.0484090459784448	0.39673	2.343442	-0.0287955153054137	0.38419	2.263285	0.675291197919005	0.22419	0.650006	0.45971	0	0.573888	0.26702	0	0.606735	0.37207	0	0.562822	0.20929	0	.	.	4.19	4.19	0.48645	0.413000	0.20869	6.027000	0.52873	0.618000	0.50648	0.994000	0.38300	1.000000	0.68203	0.991000	0.66497	0.1481:0.1646:0.6872:0.0	6.522	0.21476	982	0.03397	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Metallocarboxypeptidase Z, carboxypeptidase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	5139.98	34	chr4	8612077	.	G	A	5139.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.69;DP=1131;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.85;ReadPosRankSum=2.89;SOR=0.699	GT:AD:DP:GQ:PL	0/1:182,218:400:99:5154,0,3201	20	0	1	0
chr4	8614433	8614433	C	G	exonic	CPZ	.	nonsynonymous SNV	CPZ:NM_003652:exon8:c.C1405G:p.P469A	.	.	427	1067	28	0	0	28	0.012951	.	.	3214362	CPZ-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.47	T	0.042	B	0.01	B	0.001	D	1.000	N	0.65	N	3.6	T	-0.994	T	0.014	T	0.615	0.252	5.362	4.75	2.178	0.082	6.247	0.228	0.00259388436412	0.0073	0.00299521	0.0051	0.0089	0.0045	0	0	0.0063	0.0066	0.0030	0.0048253	746	154602	rs144878756	0.0049	0.0049	0.0049	0.0049	0.0276	0.0048	0.0048	0.0241	0.0227	0.0101	0.0069	0.0251	0	0.0001	0.0276	0.0045	0.0062	0.0033	0.0067	0.0067	0.0069	0.0066	0.0104	0.0064	0.0062	0.0091	0.0086	0.0089	0	0.0104	0.0265	0	0	0.0476	0.0052	0.0090	0.0029	0.375	0.11882	T	0.514	0.10930	T	0.042	0.21471	B	0.01	0.14941	B	0.000602	0.42945	D	0.238755	1	0.08975	N	1.68	0.43186	L	3.6	0.04494	T	-4.04	0.75615	D	0.381	0.44570	-0.9944	0.31459	T	0.014	0.05561	T	10	0.010112196	0.00226	T	0.002594	0.05235	T	0.228	0.52768	.	.	0.466991082792	0.46324	0.5021876389927722	0.50140	0.00390315856912	0.00340	0.433511316776	0.29689	T	0.151591	0.49161	T	-0.472502	0.00820	T	-0.440462	0.28757	T	0.0101249365468774	0.00136	T	0.775922	0.40781	T	0.15195194	0.34517	0.12209534	0.29454	0.18366434	0.39645	0.12209534	0.29454	-5.791	0.46431	T	0.10332189919655888	0.07954	0.070	0.03443	B	.;.;.	.;.;.	1.263735	0.16619	12.66	0.92042564288634698	0.21384	0.10239	0.15801	N	AEFDBCI	0.205368	0.33172	N	-0.573136651120873	0.19764	1.036938	-0.46347791261759	0.23167	1.262043	0.0602294326409206	0.15190	0.634777	0.41761	0	0.588015	0.36545	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.75	4.75	0.59954	0.132000	0.15716	3.098000	0.36308	0.596000	0.33519	0.000000	0.06391	0.992000	0.31684	0.359000	0.25863	0.163:0.6972:0.0:0.1399	6.247	0.20033	982	0.03397	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Metallocarboxypeptidase Z, carboxypeptidase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1645.98	165	chr4	8614433	.	C	G	1645.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.790e-01;DP=3305;ExcessHet=0.0000;FS=0.573;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.98;ReadPosRankSum=-6.540e-01;SOR=0.631	GT:AD:DP:GQ:PL	0/0:191,0:191:99:0,120,1800	20	0	1	0
chr4	8868292	8868292	C	A	exonic	HMX1	.	nonsynonymous SNV	HMX1:NM_018942:exon2:c.G448T:p.A150S,	Oculoauricular syndrome, Autosomal recessive	.	2	1516	4	0	0	4	0.00131752	.	.	1154854	not_provided|HMX1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.6	T	0.037	B	0.031	B	.	.	1.000	N	0.895	L	-2.64	D	-0.677	T	0.465	T	0.101	0.791	8.169	2.0	0.568	0.573	2.957	0.108	.	.	0.0119808	0.0309	0	0.0294	0	.	0	0.0227	0.042	0.0016947	262	154602	rs376695621	0.0017	0.0018	0.0010	0.0024	0.0308	0.0017	0.0016	0.0297	0.0292	0.0001	8.781e-05	0	7.179e-05	0	0.0002	4.539e-05	0.0023	0.0308	0.0014	0.0014	0.0008	0.0020	0.0396	0.0013	0.0012	0.0350	0.0332	0.0001	0	0.0007	0	0.0002	0	0	2.942e-05	0.0014	0.0396	0.598	0.05668	T	0.725	0.05256	T	0.037	0.20876	B	0.031	0.21939	B	.	.	.	.	0.999814	0.20249	N	0.895	0.22405	L	-2.64	0.90147	D	-0.33	0.12472	N	0.057	0.02861	-0.6767	0.61525	T	0.465	0.79312	T	9	0.0023578107	0.00035	T	.	.	.	0.108	0.30607	0.281	0.23642	.	.	0.19568230972637424	0.19485	0.848130207505	0.68413	0.86288946867	0.91536	D	0.035581	0.23773	T	-0.456617	0.01032	T	-0.410421	0.32175	T	0.00379685780776241	0.00040	T	0.451655	0.12799	T	0.04390943	0.06928	0.074783474	0.16396	0.048895363	0.08596	0.074783474	0.16396	-4.893	0.35656	T	.	.	0.079	0.07365	B	.	.	1.486981	0.19133	14.11	0.93525937421470606	0.23346	0.50288	0.28628	D	AEFDBHCI	0.103372	0.20713	N	-0.80880801377346	0.13085	0.6421646	-0.77101187273303	0.15207	0.7986188	0.837101607605085	0.24799	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	3.81	2.0	0.25495	0.045000	0.13898	0.118000	0.14877	-0.303000	0.06174	0.000000	0.06391	0.696000	0.26205	0.220000	0.22462	0.1848:0.5312:0.1798:0.1042	2.957	0.05520	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1038.98	41	chr4	8868292	.	C	A	1038.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.05;DP=879;ExcessHet=0.0000;FS=3.753;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.39;ReadPosRankSum=-7.700e-02;SOR=1.072	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1090	20	0	1	0
chr4	9210768	9210768	C	G	exonic	USP17L10	.	nonsynonymous SNV	USP17L10:NM_001256852:exon1:c.C112G:p.P38A,	.	.	677	833	12	0	0	12	0.00715137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	0.864	U	1.000	N	0.895	L	2.44	T	-0.971	T	0.036	T	0.156	0.353	5.915	0.337	0.444	1.378	.	0.045	0.0015459483867	.	.	.	.	.	.	.	.	.	.	.	.	.	rs754133272	0.0004	0.0014	0.0004	0.0004	0.0014	0.0003	0.0003	0.0003	0.0003	0.0004	0.0004	0.0010	0	0.0013	0.0014	0.0004	0.0004	0.0004	0	0.0009	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.048	0.41915	D	0.011	0.65728	D	.	.	.	.	.	.	0.864414	0.08871	U	0.896444	1	0.08975	N	2.115	0.58683	M	2.41	0.15492	T	-3.47	0.67824	D	0.205	0.23125	-0.9713	0.36925	T	0.036	0.15553	T	7	0.13079363	0.24892	T	0.001546	0.02420	T	0.045	0.12272	0.208	0.12497	0.110078149338	0.10416	0.020390398911889974	0.01992	.	.	0.469341129065	0.34589	T	0.062536	0.31943	T	-0.279078	0.10765	T	-0.638653	0.09767	T	0.200948345136473	0.20468	T	0.732227	0.34774	T	0.09496307	0.22339	0.15532763	0.36414	0.09496307	0.22339	0.15532763	0.36413	-3.727	0.19717	T	.	.	0.082	0.08705	B	.;.	.;.	0.587323	0.09560	6.333	0.75078402490821039	0.10937	0.01658	0.05317	N	AEFI	0.025428	0.01739	N	-0.724146622873609	0.15345	0.772478	-0.928985853526401	0.11412	0.5812106	3.04856071153045E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	0.337	0.15206	-0.237000	0.09007	.	.	0.397000	0.20528	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	124.11	34	chr4	9210768	.	C	G	124.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=5.26;DP=855;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=21.78;MQRankSum=2.60;QD=1.27;ReadPosRankSum=0.670;SOR=0.041	GT:AD:DP:GQ:PL	0/0:43,0:43:46:0,46,1570	19	0	2	0
chr4	9210956	9210956	C	G	exonic	USP17L10	.	stopgain	USP17L10:NM_001256852:exon1:c.C300G:p.Y100X,	.	.	1294	226	0	2	0	4	0.00877193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.382	13.92	0.337	0.444	2.408	6.567	.	.	.	.	0.0069	0	0	0	0	0	0	0.0351	0.001022	158	154602	rs759637493	0.0036	0.0012	0.0020	0.0053	0.0383	0.0034	0.0034	0.0362	0.0353	0	0	0	0.0003	0	0	6.404e-05	0.0031	0.0383	0.0018	0.0023	0.0009	0.0028	0.0329	0.0014	0.0012	0.0247	0.0218	0	0	0	0	0	0	0	8.532e-05	0	0.0329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.044	0.01658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.549544	0.95746	D	0.551606	0.95683	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.	High;.	5.826322	0.93719	33	0.99040729024750107	0.51028	0.42175	0.26820	N	AEFI	0.066284	0.12973	N	0.35928050468064	0.59231	4.100852	-0.00552036264661723	0.39465	2.340404	0.0017258734649051	0.08818	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	0.337	0.15206	1.411000	0.34311	.	.	0.397000	0.20528	1.000000	0.71638	0.617000	0.25797	0.213000	0.22268	0.0:0.9998:0.0:2.0E-4	6.567	0.21715	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.1667	4464.35	478	chr4	9210956	.	C	G	4464.35	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-1.120e-01;DP=478;ExcessHet=0.0000;FS=0.381;MLEAC=3;MLEAF=0.500;MQ=59.74;MQRankSum=0.954;QD=12.54;ReadPosRankSum=-2.240e-01;SOR=0.717	GT:AD:DP:GQ:PL	./.	2	0	1	18
chr4	9211056	9211056	A	T	exonic	USP17L10	.	nonsynonymous SNV	USP17L10:NM_001256852:exon1:c.A400T:p.R134W,	.	.	1305	216	0	1	0	2	0.00460829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	3.305	M	1.47	T	-0.881	T	0.143	T	0.204	0.502	6.724	0.337	-1.343	2.332	.	0.197	0.00476448385388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.102e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.18823	T	0.198	0.29945	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	1.845	0.48678	L	1.47	0.31987	T	-2.91	0.62747	D	0.31	0.34981	-0.8812	0.49665	T	0.143	0.46514	T	5	0.3090926	0.48399	T	0.004764	0.11879	T	0.197	0.47942	0.726	0.86024	0.306377322295	0.30243	0.0788658054830916	0.07821	.	.	0.605834960938	0.53728	T	0.017172	0.14057	T	-0.233373	0.16206	T	-0.573	0.15176	T	0.227295238371596	0.21822	T	0.125887	0.00981	T	0.07114274	0.15727	0.08547437	0.19738	0.07114274	0.15727	0.08547437	0.19738	-7.867	0.60160	D	.	.	0.109	0.20819	B	.;.	.;.	1.733157	0.22059	15.46	0.63011913879780612	0.07111	0.16385	0.19364	N	AEFI	0.275719	0.39061	N	-0.869138354620251	0.11581	0.5597085	-1.10491363396401	0.07606	0.3706144	2.40306645994285E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	0.337	0.15206	2.656000	0.46380	.	.	-0.487000	0.05053	0.976000	0.34826	0.000000	0.08366	0.002000	0.04165	.	.	.	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.25	86.11	435	chr4	9211056	.	A	T	86.11	.	AC=2;AF=0.250;AN=8;DP=435;ExcessHet=0.0000;FS=0.000;MLEAC=3;MLEAF=0.375;MQ=45.83;QD=21.14;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	./.	3	1	0	17
chr4	9211057	9211057	G	A	exonic	USP17L10	.	nonsynonymous SNV	USP17L10:NM_001256852:exon1:c.G401A:p.R134K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	0.89	L	1.68	T	-0.998	T	0.044	T	0.079	0.722	7.842	0.337	0.444	1.412	.	0.086	0.00543050194452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.437e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.26965	T	0.375	0.17217	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	0.69	0.16971	N	1.68	0.27184	T	-0.93	0.25118	N	0.153	0.16864	-0.9984	0.30367	T	0.044	0.19029	T	5	0.15810168	0.29738	T	0.005431	0.13954	T	0.086	0.25016	0.569	0.69167	0.0551355673512	0.04727	0.04405893749363262	0.04349	.	.	0.607675909996	0.53987	T	0.004322	0.03729	T	-0.309827	0.07763	T	-0.682822	0.06812	T	0.111281596124172	0.13556	T	0.0862914	0.00633	T	0.09286387	0.21795	0.10602055	0.25498	0.09286387	0.21795	0.10602055	0.25498	-6.918	0.53432	T	.	.	0.128	0.27283	B	.;.	.;.	1.525127	0.19577	14.33	0.77909286419949186	0.12074	0.01265	0.04434	N	AEFI	0.030333	0.03031	N	-0.599603371885282	0.18957	0.9884032	-0.75484656617767	0.15604	0.8214607	1.8234855900376E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	0.337	0.15206	2.108000	0.41478	.	.	-0.455000	0.05132	0.998000	0.41325	0.000000	0.08366	0.003000	0.05239	.	.	.	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.25	86.11	435	chr4	9211057	.	G	A	86.11	.	AC=2;AF=0.250;AN=8;DP=435;ExcessHet=0.0000;FS=0.000;MLEAC=3;MLEAF=0.375;MQ=45.83;QD=26.05;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	./.	3	1	0	17
chr4	9211059	9211059	G	C	exonic	USP17L10	.	nonsynonymous SNV	USP17L10:NM_001256852:exon1:c.G403C:p.A135P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	1.675	L	3.4	T	-0.996	T	0.023	T	0.404	1.928	12.41	0.337	0.444	2.162	.	0.161	0.00340347822481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.568e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.68238	D	0.013	0.65728	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	2.89	0.83701	M	3.4	0.05642	T	-3.69	0.72594	D	0.286	0.35832	-0.9955	0.31164	T	0.023	0.09604	T	5	0.42796576	0.57301	T	0.003403	0.07633	T	0.161	0.41658	0.763	0.89133	0.112648838833	0.10856	0.1009747330987612	0.10028	.	.	0.645808935165	0.59390	T	0.019659	0.15622	T	-0.136938	0.30378	T	-0.434478	0.29428	T	0.985820293426514	0.76706	D	0.878412	0.59357	D	0.75448453	0.81130	0.5634881	0.74739	0.75448453	0.81131	0.5634881	0.74740	-13.841	0.92529	D	.	.	0.352	0.56715	A	.;.	.;.	3.030063	0.40581	21.2	0.99396544934084852	0.62610	0.44721	0.27380	N	AEFI	0.170593	0.29750	N	-0.497238674986116	0.22171	1.181979	-0.682924728730024	0.17388	0.9243311	2.25147003155833E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	0.337	0.15206	3.470000	0.52864	.	.	0.443000	0.21123	0.997000	0.40164	0.004000	0.18990	0.011000	0.09372	.	.	.	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.25	86.11	435	chr4	9211059	.	G	C	86.11	.	AC=2;AF=0.250;AN=8;DP=435;ExcessHet=0.0000;FS=0.000;MLEAC=3;MLEAF=0.375;MQ=45.83;QD=29.51;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	./.	3	1	0	17
chr4	9211077	9211077	C	A	exonic	USP17L10	.	nonsynonymous SNV	USP17L10:NM_001256852:exon1:c.C421A:p.H141N,	.	.	1298	219	0	5	0	10	0.0223214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	-0.47	N	3.51	T	-0.922	T	0.006	T	0.086	-1.727	0.011	-0.674	-0.782	0.979	.	0.034	.	.	0.00119808	0.0092	0	0.0007	0	0	0	0	0.0449	0.0012936	200	154602	rs568922052	0.0042	0.0014	0.0024	0.0060	0.0433	0.0040	0.0039	0.0410	0.0401	0	0	0.0002	0	0	0.0034	0.0002	0.0040	0.0433	0.0017	0.0021	0.0008	0.0026	0.0269	0.0013	0.0011	0.0194	0.0168	0.0012	0	0	0	0	0	0	0.0003	0	0.0269	0.338	0.12796	T	0.782	0.04302	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	-1.045	0.01074	N	3.51	0.04959	T	1.55	0.00694	N	0.244	0.27554	-0.9219	0.45293	T	0.006	0.02093	T	5	0.0031163692	0.00052	T	.	.	.	0.034	0.08419	0.336	0.32491	0.0482279557977	0.04254	0.005254710017405761	0.00496	.	.	0.638035655022	0.58284	T	0.001	0.00865	T	-0.380993	0.03071	T	-0.785046	0.02304	T	0.0282142295791235	0.01719	T	0.0892911	0.00660	T	0.056557078	0.11142	0.07489258	0.16432	0.056557078	0.11141	0.07489258	0.16431	-5.395	0.40871	T	.	.	0.089	0.11989	B	.;.	.;.	0.164240	0.05541	2.002	0.67709135495991879	0.08436	0.00649	0.02827	N	AEFI	0.021847	0.01021	N	-0.90907497246602	0.10628	0.5088357	-1.04189882986195	0.08876	0.4386377	1.1710982475576E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	-0.674	0.10797	-0.016000	0.12550	.	.	-1.710000	0.00744	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	.	.	.	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.125	4410.58	452	chr4	9211077	.	C	A	4410.58	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-9.040e-01;DP=452;ExcessHet=0.0000;FS=0.398;MLEAC=3;MLEAF=0.375;MQ=59.82;MQRankSum=-1.750e-01;QD=13.45;ReadPosRankSum=-2.830e-01;SOR=0.666	GT:AD:DP:GQ:PL	./.	3	0	1	17
chr4	9211747	9211747	G	C	exonic	USP17L10	.	nonsynonymous SNV	USP17L10:NM_001256852:exon1:c.G1091C:p.S364T,	.	.	1174	336	2	10	0	22	0.0317003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	N	1.000	N	1.315	L	1.44	T	-1.051	T	0.063	T	0.105	1.410	10.65	0.337	0.444	0.791	.	0.081	0.00494424693079	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs767608503	0.0002	0.0082	0.0003	0.0002	0.0078	0.0002	0.0001	0.0034	0.0023	0.0078	0	0	0.0002	0	0.0031	0.0001	0	0.0006	5.137e-05	0.0033	0.0001	0	9.074e-05	0	0	.	.	0	0	0	0	0	0	0	9.074e-05	0	0	0.076	0.34269	T	0.054	0.48855	T	.	.	.	.	.	.	0.028604	0.25577	N	0.364420	1	0.81001	D	1.835	0.48228	L	1.44	0.32722	T	-1.96	0.45404	N	0.159	0.16586	-1.0508	0.14175	T	0.063	0.26244	T	6	0.003203094	0.00054	T	0.004944	0.12442	T	0.081	0.23632	.	.	0.115124310173	0.11017	0.003919566913084639	0.00366	.	.	0.562705755234	0.47649	T	0.008268	0.07601	T	-0.704426	0.00034	T	-0.640815	0.09609	T	0.0273817175275639	0.01599	T	0.671133	0.27986	T	0.13559984	0.31465	0.17054746	0.39172	0.13559984	0.31465	0.17054746	0.39171	-6.914	0.53403	T	.	.	0.119	0.24430	B	.;.	.;.	2.086132	0.26537	17.15	0.96272064017356607	0.29254	0.17629	0.19919	N	AEFI	0.075364	0.15131	N	-0.536111108855572	0.20921	1.106491	-0.696549762316435	0.17046	0.9046486	1.109225597663E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	0.337	0.15206	0.028000	0.13533	.	.	-0.732000	0.03721	0.048000	0.21332	0.000000	0.08366	0.226000	0.22626	.	.	.	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1818	81.76	150	chr4	9211747	.	G	C	81.76	.	AC=4;AF=0.182;AN=22;DP=150;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5367;MLEAC=4;MLEAF=0.182;MQ=41.27;QD=20.44;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	9	2	0	10
chr4	9211783	9211783	G	C	exonic	USP17L10	.	nonsynonymous SNV	USP17L10:NM_001256852:exon1:c.G1127C:p.S376T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.850	N	1.000	N	0.295	N	3.35	T	-0.900	T	0.011	T	0.065	-1.181	0.083	0.337	0.444	-0.194	.	0.056	0.0124024376797	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs756141121	2.562e-05	0.0002	3.759e-05	1.565e-05	4.458e-05	6.81e-06	2.89e-06	1.183e-05	6.28e-06	0	0	0	0	0	0	4.458e-05	0	0	0.0001	0.0001	0	0.0002	0.0002	1.774e-05	7.26e-06	3.161e-05	1.305e-05	0	0	0	0	0	0	0	0.0002	0	0	0.805	0.03077	T	0.872	0.04555	T	.	.	.	.	.	.	0.849761	0.08971	N	0.910081	1	0.81001	D	0.44	0.12706	N	3.35	0.05989	T	-0.63	0.18459	N	0.135	0.13198	-0.9004	0.47952	T	0.011	0.04181	T	6	0.0704132	0.10239	T	0.012402	0.30939	T	0.056	0.15993	0.33	0.31519	0.0666544352282	0.05500	0.0059664934757107735	0.00565	.	.	0.598369896412	0.52675	T	0.004958	0.04384	T	-0.390642	0.02665	T	-0.798907	0.01930	T	0.0374626223042551	0.03237	T	0.469153	0.13854	T	0.088377655	0.20615	0.07714865	0.17157	0.088377655	0.20614	0.07714865	0.17157	-2.916	0.09304	T	.	.	0.083	0.08997	B	.;.	.;.	0.327108	0.07015	3.571	0.84254257214202888	0.15185	0.11799	0.16869	N	AEFI	0.061657	0.11802	N	-0.643566182376852	0.17647	0.9098934	-0.754462909669441	0.15613	0.821994	4.41687917960166E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	0.337	0.15206	-1.018000	0.03737	.	.	-0.518000	0.04984	0.013000	0.18845	0.000000	0.08366	0.016000	0.10718	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.08333	36.48	147	chr4	9211783	.	G	C	36.48	.	AC=2;AF=0.083;AN=24;DP=147;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3279;MLEAC=2;MLEAF=0.083;MQ=40.00;QD=18.24;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	11	1	0	9
chr4	9211832	9211832	A	T	exonic	USP17L10	.	nonsynonymous SNV	USP17L10:NM_001256852:exon1:c.A1176T:p.R392S,	.	.	1163	356	1	2	0	5	0.0069735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	N	1.000	N	0.14	N	1.06	T	-1.047	T	0.058	T	0.091	-0.751	0.814	0.337	0.373	1.047	.	0.048	.	.	.	0.0025	0.1053	0	0	0	0.0026	0	0	3.84e-05	1	26028	rs772527028	0.0003	0.0029	0.0003	0.0002	0.0032	0.0002	0.0002	0.0011	0.0006	0.0032	0.0002	0	0	0.0002	0	0.0003	0	0.0002	0	0.0012	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.594	0.05737	T	0.711	0.05506	T	.	.	.	.	.	.	0.017419	0.01465	N	2.715260	0.999997	0.08975	N	-0.305	0.03614	N	1.06	0.39781	T	0.51	0.04091	N	0.167	0.17691	-1.0474	0.15130	T	0.058	0.24279	T	6	0.0042978525	0.00086	T	.	.	.	0.048	0.13305	0.285	0.24280	0.0954503805726	0.09146	0.007080721645171505	0.00675	.	.	0.442511886358	0.30920	T	0.002047	0.01452	T	-0.311873	0.07584	T	-0.68576	0.06637	T	0.00190084663201817	0.00019	T	0.413759	0.10783	T	0.11266872	0.26616	0.08962535	0.20969	0.11266872	0.26616	0.08962535	0.20968	-3.599	0.17842	T	.	.	0.149	0.32874	B	.;.	.;.	0.334718	0.07086	3.657	0.71546181859456126	0.09666	0.03471	0.08627	N	AEFI	0.037047	0.05032	N	-0.82370369791333	0.12706	0.6210558	-0.984100776170731	0.10142	0.5089458	2.19530635383511E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	0.337	0.15206	0.544000	0.22960	.	.	-0.492000	0.05042	0.011000	0.18532	0.000000	0.08366	0.004000	0.06068	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.1	38.91	141	chr4	9211832	.	A	T	38.91	.	AC=2;AF=0.100;AN=20;DP=141;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3183;MLEAC=2;MLEAF=0.100;MQ=42.00;QD=19.46;SOR=0.693	GT:AD:DP:GQ:PL	./.	9	1	0	11
chr4	9243884	9243884	G	C	exonic	USP17L17	.	nonsynonymous SNV	USP17L17:NM_001256857:exon1:c.G6C:p.E2D,	.	.	490	1019	13	0	0	13	0.00633837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	.	.	.	.	.	.	1.000	N	0.695	N	2.69	T	-0.945	T	0.021	T	0.181	0.315	5.707	0.37	0.450	0.501	.	0.018	0.785207235613	.	.	0.0034	0	0.0099	0	0	0.0046	0	0	0.0004657	72	154602	rs746198002	0.0020	0.0075	0.0020	0.0019	0.0022	0.0019	0.0019	0.0021	0.0021	0.0004	0.0018	0.0038	0	0.0027	0.0019	0.0022	0.0015	0.0005	0.0003	0.0015	0.0002	0.0004	0.0004	0.0002	0.0002	0.0003	0.0003	9.674e-05	0	0.0003	0	0	0.0002	0	0.0004	0	0	0.123	0.27544	T	0.315	0.22627	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.69	0.12268	T	0.15	0.05310	N	0.15	0.15328	-0.9454	0.41748	T	0.021	0.08963	T	6	0.03258398	0.01413	T	0.785207	0.98310	D	0.018	0.03083	0.246	0.18139	0.0401082797425	0.02173	0.020831925818852563	0.02036	.	.	0.541121840477	0.44603	T	0.00744	0.06846	T	-0.62805	0.00098	T	-0.66782	0.07749	T	0.00538380027744191	0.00058	T	0.390461	0.09684	T	0.08194392	0.18854	0.09321036	0.22005	0.08194392	0.18853	0.09321036	0.22004	-3.994	0.23714	T	.	.	0.121	0.25133	B	.;.	.;.	0.735441	0.11045	7.701	0.96409607182053592	0.29720	0.01105	0.04049	N	AEFI	0.030943	0.03210	N	-0.870095447995878	0.11559	0.558448	-1.05359465695228	0.08632	0.4253761	1.14241020842926E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.37	0.37	0.15392	0.094000	0.14946	.	.	0.304000	0.19002	0.121000	0.23193	0.000000	0.08366	0.002000	0.04165	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	446.98	397	chr4	9243884	.	G	C	446.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.657e+00;DP=9347;ExcessHet=0.0000;FS=3.882;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=34.78;MQRankSum=-7.420e-01;QD=0.73;ReadPosRankSum=-4.250e-01;SOR=0.438	GT:AD:DP:GQ:PL	0/0:480,0:480:99:0,120,1800	20	0	1	0
chr4	9248848	9248848	G	C	exonic	USP17L11;USP17L18	.	nonsynonymous SNV	USP17L11:NM_001256854:exon1:c.G219C:p.R73S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.342	B	0.057	B	0.234	N	1.000	N	0.345	N	2.69	T	-1.003	T	0.020	T	0.122	0.762	8.034	-0.739	-0.750	0.184	5.486	0.033	0.00156763815977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.353e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.604e-06	1.314e-05	0	1.353e-05	6.581e-05	0	0	.	.	0	0	6.581e-05	0	0	0	0	0	0	0	0.201	0.20306	T	0.118	0.36233	T	0.342	0.33490	B	0.057	0.26280	B	0.234436	0.03540	N	1.715750	1	0.08975	N	0.55	0.14455	N	2.69	0.12268	T	-0.88	0.23808	N	0.055	0.02658	-1.0032	0.28992	T	0.020	0.08593	T	10	0.056633443	0.06380	T	0.001568	0.02497	T	0.033	0.08068	0.397	0.42426	0.0482279557977	0.04254	0.04217937031283907	0.04162	.	.	0.554081678391	0.46432	T	0.013839	0.11891	T	-0.317671	0.07090	T	-0.694089	0.06155	T	0.0898734703660011	0.11203	T	0.694731	0.30434	T	0.09141517	0.21421	0.07284794	0.15764	0.09141517	0.21420	0.07284794	0.15763	-5.97	0.46028	T	.	.	0.160	0.35456	B	.;.	.;.	1.563910	0.20031	14.55	0.91703446166957425	0.20998	0.00112	0.00708	N	AEFI	0.021880	0.01028	N	-1.06731250889533	0.07252	0.3363253	-1.19177051066268	0.06047	0.2898772	1.46787719424772E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.37	-0.739	0.10560	1.028000	0.29734	.	.	0.297000	0.18867	0.002000	0.15269	0.000000	0.08366	0.301000	0.24523	0.0:0.6432:0.3567:1.0E-4	5.486	0.16042	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	81.98	46	chr4	9248848	.	G	C	81.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=7.09;DP=1803;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0248;MLEAC=1;MLEAF=0.024;MQ=20.44;MQRankSum=-8.030e-01;QD=0.69;ReadPosRankSum=0.752;SOR=0.035	GT:AD:DP:GQ:PL	0/0:181,0:181:99:0,120,1800	20	0	1	0
chr4	9249857	9249857	A	G	exonic	USP17L11;USP17L18	.	nonsynonymous SNV	USP17L11:NM_001256854:exon1:c.A1228G:p.R410G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.037	B	0.032	B	0.110	U	1.000	N	0.69	N	1.07	T	-1.038	T	0.072	T	0.079	0.050	4.272	-0.739	-0.468	-0.292	.	0.001	0.00305649019989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.875e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.15876	T	0.261	0.23845	T	0.037	0.20876	B	0.032	0.22131	B	0.109895	0.02628	U	2.313150	1	0.08975	N	0.6	0.15550	N	1.07	0.39586	T	-1.24	0.31375	N	0.074	0.05037	-1.0379	0.17954	T	0.072	0.29227	T	9	0.067789376	0.09495	T	0.003056	0.06577	T	0.001	0.00016	0.238	0.16912	0.263140351381	0.25927	0.011678153958678028	0.01127	.	.	0.447811961174	0.31646	T	0.018937	0.15180	T	-0.31143	0.07623	T	-0.685124	0.06676	T	0.222021639347076	0.21564	T	0.470053	0.13899	T	0.13180117	0.30709	0.119795635	0.28913	0.13180117	0.30709	0.119795635	0.28912	-4.072	0.24876	T	.	.	0.061	0.01179	B	.;.	.;.	0.735822	0.11051	7.705	0.74414780221818511	0.10687	0.00053	0.00405	N	AEFI	0.021792	0.01013	N	-1.22066005812331	0.04701	0.2127285	-1.35018625206933	0.03804	0.1781689	1.37642099307455E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.37	-0.739	0.10560	-0.081000	0.11285	.	.	0.327000	0.19478	0.001000	0.13787	0.000000	0.08366	0.041000	0.14368	.	.	.	.	.	Hyaluronan/mRNA-binding protein;Hyaluronan/mRNA-binding protein	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.125	40.23	114	chr4	9249857	.	A	G	40.23	.	AC=2;AF=0.125;AN=16;DP=114;ExcessHet=0.0000;FS=0.000;MLEAC=3;MLEAF=0.188;MQ=42.50;QD=20.11;SOR=0.693	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,11	7	1	0	13
chr4	9268691	9268691	G	C	exonic	USP17L20;USP17L22	.	nonsynonymous SNV	USP17L20:NM_001256861:exon1:c.G1073C:p.S358T	.	.	1201	286	32	3	0	38	0.0622951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.002	B	0.026	B	0.273	N	1.000	N	-0.255	N	3.35	T	-0.960	T	0.008	T	0.041	0.106	4.572	-0.674	-0.463	0.939	.	0.047	0.00252801589494	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1190046545	0.0162	0.0048	0.0141	0.0180	0.0925	0.0152	0.0149	0.0834	0.0799	0.0013	0.0668	0.0042	0.0153	0.0084	0.0085	0.0099	0.0112	0.0925	0.0167	0.0016	0	0.0357	0.0217	0.0030	0.0012	.	.	0	.	0	0	.	0.0357	.	0.0217	.	0	0.003	0.68238	D	0.008	0.67890	D	0.002	0.09854	B	0.026	0.20792	B	0.272848	0.15094	N	0.530180	0.999999	0.08975	N	0.23	0.09627	N	3.35	0.05989	T	-1.09	0.28290	N	0.042	0.01825	-0.9598	0.39218	T	0.008	0.02842	T	9	0.001774013	0.00023	T	0.002528	0.05065	T	0.047	0.12962	.	.	.	.	0.010295473243389567	0.00990	.	.	0.555411934853	0.46620	T	0.012805	0.11189	T	-0.374487	0.03373	T	-0.775701	0.02586	T	0.00945624223669672	0.00122	T	0.440756	0.12177	T	0.23182844	0.45961	0.15108691	0.35605	0.23182844	0.45961	0.15108691	0.35604	-7.752	0.59368	D	.	.	0.109	0.20896	B	.;.	.;.	1.406614	0.18215	13.61	0.86885054519545457	0.16839	0.08602	0.14508	N	AEFI	0.043507	0.06886	N	-1.09628047717139	0.06711	0.309726	-1.13963482210736	0.06956	0.3365952	1.15120976389251E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	-0.674	0.10797	0.616000	0.24038	.	.	0.297000	0.18867	0.057000	0.21666	0.000000	0.08366	0.001000	0.02609	.	.	.	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04167	278.44	28	chr4	9268691	.	G	C	278.44	.	AC=1;AF=0.042;AN=24;BaseQRankSum=0.363;DP=814;ExcessHet=0.0000;FS=2.551;InbreedingCoeff=0.2428;MLEAC=2;MLEAF=0.083;MQ=30.78;MQRankSum=2.35;QD=7.14;ReadPosRankSum=-5.680e-01;SOR=1.700	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1,0:1:3:.:.:0,3,43	11	0	1	9
chr4	9782215	9782215	C	A	exonic	DRD5	.	stopgain	DRD5:NM_000798:exon1:c.C186A:p.C62X,	Dystonia, primary cervical (3)	.	386	1130	5	1	0	7	0.00308778	.	.	3203358	DRD5-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.87	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	4.512	24.3	-1.98	-0.688	-0.758	11.832	.	.	.	0.00159744	0.0010	0	8.94e-05	0	0	4.796e-05	0	0.0077	0.0007891	122	154602	rs570059380	0.0004	0.0004	0.0002	0.0006	0.0066	0.0004	0.0004	0.0062	0.0060	2.991e-05	0	3.848e-05	0	0	0.0012	6.3e-06	0.0004	0.0066	0.0002	0.0002	0.0001	0.0003	0.0056	0.0002	0.0001	0.0039	0.0034	7.212e-05	0	0	0	0	0	0	2.94e-05	0	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.721	0.72299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.148637	0.28526	T	0.017443	0.71465	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	4.717760	0.75853	26.4	0.97854186248083119	0.36418	0.47422	0.27979	N	AEFDBI	0.223850	0.34815	N	-0.593673650128095	0.19135	0.9991522	-0.941836232594827	0.11113	0.5641793	0.84216131042656	0.24887	0.437478	0.07067	0	0.59043	0.45803	0	0.606814	0.37721	0	0.562822	0.20929	0	.	.	3.87	-1.98	0.07070	-0.838000	0.04480	.	.	-1.150000	0.01427	0.002000	0.15269	0.000000	0.08366	0.622000	0.31948	0.0:0.5591:0.0:0.4409	11.832	0.51576	917	0.20147	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	593.98	35	chr4	9782215	.	C	A	593.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.13;DP=727;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.20;ReadPosRankSum=1.16;SOR=0.628	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1063	20	0	1	0
chr4	9782252	9782252	A	G	exonic	DRD5	.	nonsynonymous SNV	DRD5:NM_000798:exon1:c.A223G:p.M75V,	Dystonia, primary cervical (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.012	B	0.003	B	0.000	D	1.000	D	-2.435	N	1.36	T	-1.001	T	0.013	T	0.123	-0.945	0.351	4.01	1.685	7.090	4.668	0.139	0.00130551320981	.	.	1.671e-05	0	0	0	0	3.043e-05	0	0	1.29e-05	2	154602	rs745775968	7.527e-06	7.524e-06	5.447e-06	9.629e-06	8.994e-06	4.04e-06	2.95e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.994e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.012	0.16265	B	0.003	0.08700	B	0.000002	0.62929	D	0.057916	0.781303	0.34270	D	-2.12	0.00150	N	1.36	0.34452	T	1.47	0.00765	N	0.062	0.03392	-1.0012	0.29574	T	0.013	0.05273	T	10	0.10661745	0.19766	T	0.001306	0.01809	T	0.139	0.37390	0.508	0.60386	0.0611884634855	0.05136	0.4239581103860233	0.42312	0.241051324156	0.26636	0.697599947453	0.66797	T	0.077168	0.35591	T	-0.207852	0.19683	T	-0.536342	0.18658	T	0.180571534420127	0.19271	T	0.917708	0.70434	D	0.31113243	0.53884	0.26914346	0.52791	0.31113243	0.53885	0.26914346	0.52790	0.979	0.00135	T	.	.	0.067	0.02488	B	.	.	1.159840	0.15487	11.89	0.79253100906617779	0.12658	0.76640	0.37604	D	AEFDBI	0.436538	0.49671	N	-0.714127520554493	0.15624	0.7890179	-0.40824832799867	0.24755	1.357388	0.999955560894419	0.48110	0.437478	0.07067	0	0.59043	0.45803	0	0.606814	0.37721	0	0.562822	0.20929	0	.	.	4.01	4.01	0.45821	7.064000	0.76416	.	.	0.686000	0.82685	1.000000	0.71638	1.000000	0.68203	0.859000	0.40722	0.7718:0.0:0.2282:0.0	4.668	0.12061	917	0.20147	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1334.98	35	chr4	9782252	.	A	G	1334.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.770e-01;DP=867;ExcessHet=0.0000;FS=2.047;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.92;MQRankSum=0.00;QD=8.96;ReadPosRankSum=-1.920e-01;SOR=0.590	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1063	20	0	1	0
chr4	9782253	9782253	T	C	exonic	DRD5	.	nonsynonymous SNV	DRD5:NM_000798:exon1:c.T224C:p.M75T,	Dystonia, primary cervical (3)	.	370	1146	6	0	0	6	0.00261097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.729	P	0.236	B	0.000	D	1.000	D	-0.165	N	1.3	T	-1.045	T	0.040	T	0.229	1.934	12.43	2.83	0.609	4.667	8.379	0.124	0.00274293057261	0.0009	.	0.0011	0.0005	0.0003	0	0.0008	0.0018	0.0011	0.0001	0.0009767	151	154602	rs151282040	0.0010	0.0010	0.0011	0.0010	0.0061	0.0010	0.0010	0.0045	0.0039	0.0001	0.0003	0.0016	0	0.0009	0.0061	0.0012	0.0013	0.0003	0.0008	0.0008	0.0007	0.0009	0.0013	0.0007	0.0006	0.0011	0.0010	0.0002	0	0.0004	0.0014	0	0.0006	0.0068	0.0013	0.0005	0.0002	0.067	0.35918	T	0.003	0.76473	D	0.729	0.42602	P	0.236	0.38470	B	0.000002	0.62929	D	0.057916	0.901392	0.36180	D	0.03	0.08032	N	1.3	0.35590	T	-1.37	0.33998	N	0.131	0.12627	-1.0454	0.15709	T	0.040	0.17362	T	10	0.035781264	0.01843	T	0.002743	0.05665	T	0.124	0.34239	.	.	0.307016933798	0.30308	0.5923767464184914	0.59167	0.274372190121	0.29930	0.803236782551	0.82457	D	0.154997	0.49654	T	-0.460837	0.00972	T	-0.459365	0.26669	T	0.0768838287611642	0.09584	T	0.771723	0.40231	T	0.5722798	0.71186	0.60634446	0.77113	0.5722798	0.71187	0.60634446	0.77114	-6.197	0.47898	T	.	.	0.129	0.27553	B	.	.	2.414654	0.31037	18.62	0.97237641563409605	0.32978	0.97552	0.75497	D	AEFDBI	0.628644	0.61065	D	-0.155471923634549	0.35002	2.005032	-0.0750056452285149	0.36427	2.119762	0.999413293634864	0.39577	0.437478	0.07067	0	0.59043	0.45803	0	0.606814	0.37721	0	0.562822	0.20929	0	.	.	4.01	2.83	0.32150	4.725000	0.61673	.	.	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.899000	0.43558	0.0:0.0944:0.0:0.9056	8.379	0.31619	917	0.20147	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	420.98	35	chr4	9782253	.	T	C	420.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.975;DP=767;ExcessHet=0.0000;FS=1.219;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.74;MQRankSum=0.00;QD=10.52;ReadPosRankSum=0.304;SOR=0.941	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1063	20	0	1	0
chr4	9834936	9834936	C	T	exonic	SLC2A9	.	nonsynonymous SNV	SLC2A9:NM_020041:exon11:c.G1364A:p.G455D	Hypouricemia, renal, 2, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.275	M	0.98	T	-0.140	T	0.351	T	0.942	3.917	19.93	5.27	2.451	7.139	16.369	0.645	0.051637097559	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1223347018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.314e-05	1.313e-05	2.57e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999992	0.58761	D	3.615	0.93875	H	0.98	0.42122	T	-6.57	0.91912	D	0.991	0.99776	-0.1395	0.79177	T	0.351	0.71494	T	10	0.97263867	0.96913	D	0.051637	0.64742	D	0.645	0.86536	0.777	0.90235	0.572106025898	0.56878	0.948593100166401	0.94842	0.59470734098	0.54777	0.697117865086	0.66728	T	0.572315	0.85859	D	0.284373	0.81688	D	0.170705	0.81453	D	0.998738467693329	0.95007	D	0.957038	0.83775	D	0.9806002	0.99155	0.9671815	0.99337	0.9806002	0.99155	0.9671815	0.99338	-11.367	0.82538	D	0.8852627039888439	0.94173	0.987	0.92685	P	.;.;.	.;.;.	4.465838	0.69550	25.4	0.9983365438646572	0.91542	0.97779	0.77072	D	AEFBI	0.934921	0.92899	D	0.818567810558031	0.87252	9.154346	0.714087190170896	0.83449	8.024212	0.999999976532322	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.27	5.27	0.73797	7.491000	0.80296	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.090000	0.17789	0.0:1.0:0.0:0.0	16.369	0.83178	883	0.28872	Major facilitator superfamily domain|Major facilitator superfamily domain;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2439.98	40	chr4	9834936	.	C	T	2439.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.120e-01;DP=910;ExcessHet=0.0000;FS=10.768;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.58;ReadPosRankSum=0.787;SOR=1.096	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1419	20	0	1	0
chr4	10087915	10087915	T	C	exonic	WDR1	.	nonsynonymous SNV	WDR1:NM_005112:exon5:c.A323G:p.H108R	.	.	425	1049	46	2	0	50	0.0232775	.	.	1154593	not_provided|Lazy_leukocyte_syndrome	MedGen:C3661900|MONDO:MONDO:0007883,MedGen:C0272174,OMIM:150550,Orphanet:652522	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.41	T	0.001	B	0.002	B	0.000	N	0.991	D	-0.245	N	0.23	T	-1.086	T	0.060	T	0.226	1.471	10.87	4.46	0.969	4.651	10.835	0.067	.	0.0048	0.00678914	0.0124	0.0022	0.0056	0	0.0167	0.0109	0.02	0.0185	0.0050452	780	154602	rs41268387	0.0070	0.0070	0.0066	0.0075	0.0216	0.0069	0.0069	0.0185	0.0173	0.0010	0.0034	0.0088	0.0001	0.0166	0.0216	0.0063	0.0064	0.0167	0.0053	0.0053	0.0048	0.0057	0.0168	0.0050	0.0048	0.0138	0.0127	0.0013	0	0.0035	0.0098	0.0010	0.0168	0.0204	0.0056	0.0047	0.0168	0.817	0.08534	T	0.554	0.24334	T	0.0	0.07471	B	0.002	0.06944	B	0.000190	0.48115	N	0.182612	0.99051	0.41175	D	0.09	0.08384	N	0.23	0.59717	T	0.92	0.05125	N	0.361	0.40565	-1.0858	0.06263	T	0.060	0.25237	T	10	0.0067503154	0.00153	T	.	.	.	0.067	0.19503	.	.	0.218628672733	0.21463	0.31849216096257105	0.31762	0.507810000154	0.48961	0.509267151356	0.40119	T	0.076434	0.35419	T	-0.45722	0.01023	T	-0.415916	0.31544	T	0.00694049655315045	0.00079	T	0.781022	0.45098	T	0.114508115	0.27032	0.09213647	0.21697	0.114508115	0.27032	0.09213647	0.21697	-5.521	0.42064	T	.	.	0.081	0.15430	B	.;.;.;.	.;.;.;.	2.535099	0.32784	19.15	0.91713494636780124	0.21009	0.95272	0.64079	D	AEFBCI	0.666365	0.63485	D	-0.392156960646774	0.25748	1.400014	-0.167274809422776	0.32748	1.866268	0.999999980427769	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.64	4.46	0.53567	4.560000	0.60512	2.236000	0.31572	0.665000	0.62972	1.000000	0.71638	0.997000	0.33255	0.996000	0.76049	0.0:0.074:0.0:0.926	10.835	0.45886	784	0.47045	WD40-repeat-containing domain;.;WD40-repeat-containing domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5643.08	36	chr4	10087915	.	T	C	5643.08	.	AC=2;AF=0.048;AN=42;DP=906;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.09;SOR=0.944	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1070	20	1	0	0
chr4	10443571	10443571	C	T	exonic	ZNF518B	.	nonsynonymous SNV	ZNF518B:NM_001375817:exon2:c.G2758A:p.A920T	.	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.016	B	0.017	B	0.001	N	0.983	N	1.245	L	4.71	T	-0.946	T	0.005	T	0.183	2.794	15.30	1.15	0.132	1.403	4.863	0.053	0.0063009351165	.	0.00119808	0.0012	0	8.648e-05	0	0	0	0	0.0086	0.0009702	150	154602	rs558440989	0.0006	0.0006	0.0003	0.0008	0.0092	0.0005	0.0005	0.0087	0.0084	2.987e-05	0	0	2.519e-05	0	0.0003	1.169e-05	0.0006	0.0092	0.0002	0.0002	0.0001	0.0003	0.0073	0.0002	0.0002	0.0054	0.0047	2.407e-05	0	0	0	0	0	0	0	0	0.0073	0.001	0.78490	D	0.012	0.63918	D	0.016	0.17332	B	0.017	0.18140	B	0.001354	0.39310	N	0.177133	0.982945	0.24924	N	1.67	0.42885	L	4.71	0.01655	T	-1.0	0.26422	N	0.117	0.10626	-0.9459	0.41665	T	0.005	0.01833	T	10	0.0072772503	0.00166	T	0.006301	0.16551	T	0.053	0.14996	0.353	0.35246	0.043077524339	0.03247	0.13928643952740785	0.13851	0.0164635354854	0.01586	0.433574855328	0.29698	T	0.024311	0.18392	T	-0.529978	0.00384	T	-0.528222	0.19465	T	0.0466878070736073	0.04909	T	0.610139	0.23115	T	0.12458756	0.29228	0.11380789	0.27469	0.12458756	0.29228	0.11380789	0.27468	-2.818	0.08350	T	.	.	0.106	0.19478	B	.	.	1.884488	0.23939	16.21	0.9923633490160173	0.56405	0.80831	0.40370	D	AEFBCI	0.080062	0.16180	N	-0.482131183637459	0.22667	1.211916	-0.420606333599121	0.24394	1.335498	0.994403072892731	0.33622	0.722319	0.85440	0	0.643519	0.57511	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	6.01	1.15	0.19876	1.653000	0.36940	0.588000	0.19789	0.599000	0.40250	0.872000	0.30832	0.073000	0.22253	0.992000	0.67800	0.2544:0.5405:0.0:0.2051	4.863	0.12953	584	0.69381	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1846.98	34	chr4	10443571	.	C	T	1846.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.705e+00;DP=894;ExcessHet=0.0000;FS=2.122;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=0.345;SOR=0.527	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	20	0	1	0
chr4	10445589	10445589	T	C	exonic	ZNF518B	.	nonsynonymous SNV	ZNF518B:NM_001375817:exon2:c.A740G:p.N247S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.0	B	0.0	B	0.201	N	1.000	N	0	N	4.92	T	-0.902	T	0.003	T	0.001	-0.601	1.314	-5.2	-0.969	-1.847	10.957	0.018	0.0172550426581	0.0004	.	0.0001	0.0009	0	0	0	1.499e-05	0.0011	0.0001	8.41e-05	13	154602	rs141835884	5.336e-05	5.336e-05	5.717e-05	4.95e-05	0.0005	4.344e-05	4.017e-05	0.0003	0.0003	0.0005	0	0	0	3.747e-05	0	3.957e-05	8.279e-05	0.0001	0.0001	0.0001	0.0002	6.721e-05	0.0003	8.167e-05	6.723e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	8.819e-05	0.0005	0	1.0	0.00964	T	0.804	0.04017	T	0.0	0.02946	B	0.0	0.01387	B	0.200520	0.03316	N	1.718550	1	0.08975	N	-0.44	0.02835	N	4.92	0.01404	T	0.5	0.02945	N	0.018	0.00252	-0.9017	0.47814	T	0.003	0.01026	T	10	0.014219165	0.00299	T	0.017255	0.38885	T	0.018	0.03083	.	.	0.043077524339	0.03247	0.1654196490022211	0.16461	0.0148348681945	0.01408	0.191409409046	0.00251	T	8.94E-4	0.00456	T	-0.661718	0.00061	T	-0.872132	0.00722	T	0.00871194060891867	0.00107	T	0.534247	0.17838	T	0.009438572	0.00002	0.02056652	0.00143	0.009438572	0.00002	0.02056652	0.00143	-2.562	0.06220	T	.	.	0.061	0.01109	B	.	.	-1.826448	0.00148	0.002	0.18652673913574616	0.00596	0.04530	0.10162	N	AEFBCI	0.023610	0.01340	N	-1.7066635036072	0.00818	0.03538125	-1.71084387363074	0.01090	0.04896189	0.819483310481879	0.24498	0.706548	0.73137	0	0.724815	0.89359	0	0.463624	0.06942	0	0.711	0.71501	0	.	.	6.17	-5.2	0.02608	-0.996000	0.03819	-4.419000	0.02166	-0.767000	0.03477	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.0:0.2369:0.1006:0.6626	10.957	0.46577	576	0.70006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2072.98	38	chr4	10445589	.	T	C	2072.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.270e-01;DP=1181;ExcessHet=0.0000;FS=1.799;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=-7.320e-01;SOR=0.830	GT:AD:DP:GQ:PL	0/1:101,84:185:99:2087,0,2684	20	0	1	0
chr4	11399730	11399730	C	A	exonic	HS3ST1	.	nonsynonymous SNV	HS3ST1:NM_005114:exon2:c.G276T:p.W92C,	.	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.964	D	0.000	D	1.000	D	1.995	M	-1.52	D	0.233	D	0.609	D	0.838	3.398	17.47	4.97	1.466	5.920	13.837	0.690	0.160803197647	.	.	5.807e-05	0	0	0	0	9.085e-05	0	6.056e-05	7.12e-05	11	154602	rs202149392	3.763e-05	3.762e-05	3.676e-05	3.851e-05	0.0003	2.96e-05	2.656e-05	6.094e-05	2.522e-05	0	8.944e-05	0.0005	0	0	0.0003	2.428e-05	0.0001	3.478e-05	4.595e-05	4.593e-05	2.569e-05	6.712e-05	0.0002	2.107e-05	1.526e-05	7.97e-06	2.98e-06	4.81e-05	0	0	0.0006	0	0	0	2.94e-05	0	0.0002	0.02	0.49613	D	0.081	0.41742	T	1.0	0.90584	D	0.964	0.71005	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.35	0.67516	M	-1.52	0.81478	D	-3.18	0.64478	D	0.721	0.72299	0.233	0.86467	D	0.609	0.86136	D	10	0.8476702	0.83936	D	0.160803	0.84072	D	0.690	0.88726	0.524	0.62818	0.821454175931	0.81977	0.92974560795578	0.92952	1.64781049961	0.89498	0.772499322891	0.77799	T	0.641823	0.89026	D	0.148961	0.69171	D	0.162099	0.80935	D	0.64268684387207	0.38151	D	0.974503	0.90930	D	0.6129793	0.73387	0.4833681	0.70090	0.6129793	0.73389	0.4833681	0.70090	-5.428	0.41188	T	.	.	0.888	0.81990	P	.	.	4.803935	0.78081	26.8	0.98987295505445816	0.49861	0.94325	0.60806	D	AEFDBCI	0.871866	0.79346	D	0.66424658148627	0.77293	6.647125	0.645850448634753	0.78301	6.849052	0.965177577117284	0.28813	0.553676	0.25195	0	0.588066	0.40923	0	0.576033	0.28219	0	0.620846	0.47308	0	.	.	5.81	4.97	0.65419	5.999000	0.70334	4.883000	0.45686	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9273:0.0:0.0727	13.837	0.62910	884	0.28482	Sulfotransferase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2528.98	33	chr4	11399730	.	C	A	2528.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=889;ExcessHet=0.0000;FS=2.700;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.62;ReadPosRankSum=-2.570e-01;SOR=0.506	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1205	20	0	1	0
chr4	13614399	13614399	T	C	exonic	BOD1L1	.	nonsynonymous SNV	BOD1L1:NM_148894:exon4:c.A971G:p.K324R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.992	D	0.000	D	0.551	N	2.045	M	2.86	T	-0.986	T	0.079	T	0.171	4.097	21.1	5.45	2.186	2.561	15.464	0.082	0.00735380402915	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1355826672	1.406e-06	2.052e-06	1.392e-06	1.42e-06	9.176e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.176e-07	1.698e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.067	0.44302	T	1.0	0.90584	D	0.992	0.80445	D	0.000228	0.47286	D	0.000000	0.551368	0.31331	N	2.515	0.73286	M	2.86	0.10482	T	-1.18	0.30140	N	0.214	0.23884	-0.9858	0.33639	T	0.079	0.31496	T	10	0.24181888	0.41367	T	0.007354	0.19496	T	0.082	0.23913	0.31	0.28289	0.307950594193	0.30395	0.028999306022489256	0.02848	0.298107270243	0.32188	0.491870820522	0.37698	T	0.02019	0.15942	T	-0.179387	0.23827	T	-0.495454	0.22820	T	0.935526490211487	0.60381	D	0.711729	0.32279	T	0.27239996	0.50309	0.3525207	0.60828	0.27239996	0.50309	0.3525207	0.60827	-5.309	0.40032	T	.	.	0.091	0.13127	B	.	.	3.463984	0.48298	22.6	0.99904595771504012	0.97576	0.84406	0.43488	D	AEFGBI	0.420022	0.48701	N	0.600785261589283	0.73226	5.931419	0.581555243737057	0.73616	6.000053	0.999981642308232	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.45	5.45	0.79688	1.380000	0.33958	6.173000	0.54519	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.464	0.75113	604	0.67577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	811.98	34	chr4	13614399	.	T	C	811.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.800e-01;DP=783;ExcessHet=0.0000;FS=1.912;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.83;ReadPosRankSum=-1.948e+00;SOR=0.808	GT:AD:DP:GQ:PL	0/1:42,33:75:99:826,0,1097	20	0	1	0
chr4	15003171	15003171	C	A	exonic	CPEB2	.	nonsynonymous SNV	CPEB2:NM_001177381:exon1:c.C498A:p.F166L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	.	.	.	.	.	.	1.000	N	0	N	0.8	T	-1.035	T	0.072	T	0.234	2.889	15.63	2.86	1.618	0.302	9.350	0.046	0.64443606595	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1054294649	2.894e-06	4.104e-06	1.428e-06	4.398e-06	0.0004	6.8e-07	4.6e-07	6.173e-05	2.551e-05	0	0	0	0	0	0.0004	9.274e-07	0	1.263e-05	6.59e-06	6.569e-06	0	1.35e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.0	0.91255	D	0.789	0.04207	T	.	.	.	.	.	.	.	.	.	.	0.990359	0.24182	N	.	.	.	0.78	0.49358	T	-0.68	0.19509	N	0.127	0.12198	-1.0353	0.18762	T	0.072	0.29323	T	7	0.14563066	0.27622	T	0.644436	0.96977	D	0.046	0.12618	0.131	0.03577	0.216943180021	0.21308	0.010066571108540456	0.00968	0.369964310443	0.38527	0.782397091389	0.79289	T	.	.	.	-0.142543	0.29486	T	-0.44253	0.28526	T	0.793429434299469	0.45914	D	.	.	.	.	.	.	.	.	.	.	.	-3.032	0.14589	T	.	.	0.763	0.83876	P	.;.	.;.	2.696483	0.35208	19.84	0.99444880525502455	0.64971	0.00909	0.03552	N	AEFDGBHCI	0.069504	0.13760	N	-0.297549843075845	0.29243	1.619952	-0.27755873792579	0.28839	1.611087	0.999999999811948	0.74766	0.623204	0.39778	0	0.166054	0.03914	2	0.378051	0.06126	2	0.56214	0.19341	0	.	.	2.86	2.86	0.32427	1.028000	0.29734	2.573000	0.33375	0.413000	0.20698	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	9.350	0.37294	588	0.69043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1105.98	41	chr4	15003171	.	C	A	1105.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.002e+00;DP=906;ExcessHet=0.0000;FS=2.128;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.26;ReadPosRankSum=0.552;SOR=1.022	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,100,1212	20	0	1	0
chr4	15003254	15003254	-	GCC	exonic	CPEB2	.	nonframeshift insertion	CPEB2:NM_001177381:exon1:c.581_582insGCC:p.L202_G682delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRMDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNARSYGRRRGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*	.	.	0	191	27	1	7	36	0.0705596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0142	0.0111	0.0222	0.0224	0	0.0065	0.0192	0.0167	0.0002305	6	26028	rs560468327	0.0034	0.0034	0.0029	0.0038	0.0285	0.0033	0.0032	0.0269	0.0262	0.0285	0.0034	0.0094	0.0107	0.0001	0.0136	0.0013	0.0056	0.0155	0.0097	0.0097	0.0098	0.0096	0.0256	0.0093	0.0091	0.0244	0.0238	0.0256	0	0.0049	0.0095	0.0097	0	0.0140	0.0021	0.0101	0.0185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1112.05	34	chr4	15003254	.	A	AGCCGCC,AGCC	1112.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-1.420e-01;DP=783;ExcessHet=0.1072;FS=0.810;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=16.60;ReadPosRankSum=0.263;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0,0:39:99:.:.:0,100,1212,100,1212,1212	19	0	1	0
chr4	15003452	15003452	C	A	exonic	CPEB2	.	nonsynonymous SNV	CPEB2:NM_001177381:exon1:c.C779A:p.P260Q	.	.	404	1115	3	0	0	3	0.00134348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	.	.	.	.	.	.	1.000	N	0	N	0.58	T	-1.038	T	0.067	T	0.107	-1.406	0.022	-0.107	-0.227	-0.595	2.858	0.026	.	.	0.000798722	0.0104	0	0	.	.	0.0333	0.1	0.0067	0.0005045	78	154602	rs537061668	0.0065	0.0059	0.0065	0.0066	0.0071	0.0064	0.0064	0.0070	0.0069	0.0009	0.0022	0.0059	0	0.0097	0.0014	0.0071	0.0053	0.0021	0.0057	0.0057	0.0059	0.0054	0.0093	0.0054	0.0052	0.0087	0.0085	0.0018	0.0099	0.0014	0.0049	0	0.0082	0.0034	0.0093	0.0028	0.0027	0.278	0.15613	T	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.999784	0.20372	N	.	.	.	0.56	0.54540	T	-0.38	0.14000	N	0.115	0.11912	-1.0375	0.18078	T	0.067	0.27468	T	7	0.0047171116	0.00099	T	.	.	.	0.026	0.05648	.	.	0.151262610727	0.14761	0.16694878466902682	0.16614	0.296207634344	0.32004	0.813390254974	0.84013	D	.	.	.	-0.601185	0.00143	T	-0.625306	0.10773	T	0.00839786589639127	0.00101	T	.	.	.	.	.	.	.	.	.	.	.	-4.36	0.29010	T	.	.	0.067	0.13127	B	.;.	.;.	1.827806	0.23222	15.93	0.92489614042115387	0.21923	0.00749	0.03116	N	ALL	0.042349	0.06559	N	-0.707538709865783	0.15809	0.8000295	-0.788237943674239	0.14783	0.7742541	0.99999972090335	0.74766	0.623204	0.39778	0	0.218748	0.04544	0	0.378051	0.06126	2	0.249971	0.05119	0	.	.	2.09	-0.107	0.12930	-0.723000	0.05056	1.575000	0.27440	-0.584000	0.04686	0.000000	0.06391	1.000000	0.68203	0.794000	0.37478	0.4712:0.3624:0.0:0.1664	2.858	0.05235	579	0.69780	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	292.98	34	chr4	15003452	.	C	A	292.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=798;ExcessHet=0.0000;FS=1.617;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=-4.150e-01;SOR=0.340	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1171	20	0	1	0
chr4	15003544	15003544	G	T	exonic	CPEB2	.	nonsynonymous SNV	CPEB2:NM_001177381:exon1:c.G871T:p.G291C	.	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	N	0	N	0.44	T	-1.023	T	0.079	T	0.167	2.169	13.21	2.23	1.252	1.065	4.872	0.023	0.49066394509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	0.995894	0.23172	N	.	.	.	0.42	0.56937	T	-1.54	0.38345	N	0.196	0.27435	-1.0233	0.22638	T	0.079	0.31466	T	7	0.17611933	0.32579	T	0.490664	0.94993	D	0.023	0.04649	0.312	0.28612	0.250512400709	0.24649	0.40058756321903216	0.39973	0.338184895751	0.35792	0.868773818016	0.92392	D	.	.	.	-0.106782	0.35302	T	-0.391162	0.34415	T	0.843504011631012	0.49616	D	.	.	.	.	.	.	.	.	.	.	.	-6.052	0.47010	T	.	.	0.175	0.51592	B	.;.	.;.	3.542729	0.49765	22.8	0.99275153735101374	0.57696	0.25403	0.22688	N	AEFDBHCIJ	0.208079	0.33419	N	-0.253573131990415	0.30961	1.731397	-0.252200553237577	0.29695	1.665794	0.999999906504315	0.74766	0.437478	0.07067	0	0.218748	0.04544	0	0.606814	0.37721	0	0.249971	0.05119	0	.	.	2.23	2.23	0.27189	1.453000	0.34778	6.976000	0.57108	0.465000	0.21702	0.006000	0.17386	1.000000	0.68203	0.949000	0.49496	0.1873:0.0:0.8127:0.0	4.872	0.12993	579	0.69780	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1500.98	88	chr4	15003544	.	G	T	1500.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=897;ExcessHet=0.0000;FS=1.777;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.06;ReadPosRankSum=-8.430e-01;SOR=0.967	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1171	20	0	1	0
chr4	15003545	15003545	G	A	exonic	CPEB2	.	nonsynonymous SNV	CPEB2:NM_001177381:exon1:c.G872A:p.G291D	.	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	N	0	N	0.49	T	-0.980	T	0.094	T	0.275	2.388	13.94	2.23	1.252	1.022	10.066	0.039	0.428652719078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.779e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.465	0.28669	T	.	.	.	.	.	.	.	.	.	.	0.997591	0.22593	N	.	.	.	0.46	0.56281	T	-1.07	0.28703	N	0.137	0.22614	-0.9798	0.35048	T	0.094	0.35524	T	7	0.16893393	0.31473	T	0.428653	0.93937	D	0.039	0.10176	0.194	0.10571	0.372491666437	0.36864	0.4038894716943685	0.40304	0.411933081622	0.41941	0.877690434456	0.93648	D	.	.	.	-0.106938	0.35274	T	-0.391385	0.34390	T	0.707441031932831	0.41075	D	.	.	.	.	.	.	.	.	.	.	.	-4.767	0.34204	T	.	.	0.130	0.43517	B	.;.	.;.	3.250144	0.44406	21.9	0.99144971648526192	0.53655	0.19222	0.20576	N	AEFDBHCIJ	0.147924	0.27170	N	-0.247741181233483	0.31192	1.746676	-0.244493984650068	0.29962	1.682926	0.999999868095438	0.74766	0.437478	0.07067	0	0.218748	0.04544	0	0.606814	0.37721	0	0.249971	0.05119	0	.	.	2.23	2.23	0.27189	0.406000	0.20754	5.920000	0.51151	0.465000	0.21702	0.002000	0.15269	1.000000	0.68203	0.949000	0.49496	0.0:0.0:1.0:0.0	10.066	0.41479	579	0.69780	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1500.98	88	chr4	15003545	.	G	A	1500.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=901;ExcessHet=0.0000;FS=1.777;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.06;ReadPosRankSum=-6.190e-01;SOR=0.967	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1171	20	0	1	0
chr4	15003812	15003812	G	C	exonic	CPEB2	.	nonsynonymous SNV	CPEB2:NM_001177381:exon1:c.G1139C:p.G380A	.	.	551	948	18	5	0	28	0.014553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	.	.	.	.	.	.	1.000	N	0	N	0.85	T	-0.994	T	0.073	T	0.057	0.805	8.232	1.45	0.796	3.139	8.433	0.044	.	.	0.0119808	0.1152	0.1	0.2	0	.	0.0357	0.0714	0.1228	0.0020116	311	154602	rs572958953	0.0079	0.0069	0.0075	0.0082	0.0465	0.0077	0.0076	0.0440	0.0430	0.0009	0.0046	0.0052	0	0.0027	0.0196	0.0073	0.0097	0.0465	0.0071	0.0069	0.0063	0.0079	0.0510	0.0067	0.0066	0.0457	0.0436	0.0013	0.0144	0.0087	0.0068	0.0002	0.0006	0.0492	0.0082	0.0059	0.0510	0.0	0.91255	D	0.515	0.21947	T	.	.	.	.	.	.	.	.	.	.	0.845602	0.28570	N	.	.	.	0.8	0.48769	T	-0.21	0.12472	N	0.067	0.17691	-0.9936	0.31670	T	0.073	0.29483	T	7	0.0017962456	0.00024	T	.	.	.	0.044	0.11924	.	.	.	.	0.4029871108901258	0.40214	0.342334712265	0.36172	0.784202933311	0.79562	T	.	.	.	-0.565046	0.00237	T	-0.558664	0.16501	T	0.133774850907415	0.15726	T	.	.	.	.	.	.	.	.	.	.	.	-3.859	0.21884	T	.	.	0.287	0.69497	B	.;.	.;.	3.220641	0.43878	21.8	0.86073891809344205	0.16296	0.51470	0.28903	D	AEFDBHCI	0.328139	0.42889	N	-0.293961584911156	0.29379	1.628797	-0.307236041630183	0.27864	1.549253	0.999999996077333	0.74766	0.437478	0.07067	0	0.166054	0.03914	2	0.606814	0.37721	0	0.621717	0.48901	0	.	.	1.45	1.45	0.21708	2.813000	0.47701	6.620000	0.56116	0.208000	0.17961	0.998000	0.41325	1.000000	0.68203	0.803000	0.37862	0.0:0.0:1.0:0.0	8.433	0.31932	579	0.69780	.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.025	56.62	5	chr4	15003812	.	G	C	56.62	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.108;DP=244;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0441;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=8.09;ReadPosRankSum=0.00;SOR=0.446	GT:AD:DP:GQ:PL	0/0:8,0:8:24:0,24,252	19	0	1	1
chr4	15003927	15003927	-	CCGCAC	exonic	CPEB2	.	nonframeshift insertion	CPEB2:NM_001177381:exon1:c.1254_1255insCCGCAC:p.P420_G682delinsHPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRMDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNARSYGRRRGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	263.94	33	chr4	15003927	.	G	GCCGCAC	263.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=733;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=-3.960e-01;SOR=0.653	GT:AD:DP:GQ:PL	0/1:16,9:25:99:278,0,545	20	0	1	0
chr4	15004125	15004125	-	GGGGGGGGGGGGG	exonic	CPEB2	.	frameshift insertion	CPEB2:NM_001177381:exon1:c.1452_1453insGGGGGGGGGGGGG:p.F488Gfs*68	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.416e-05	0.0011	7.738e-05	7.09e-05	0.0003	6.203e-05	5.787e-05	0.0001	0.0001	0.0003	2.912e-05	0.0002	3.182e-05	4.243e-05	0	7.362e-05	0.0001	1.291e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	385.35	44	chr4	15004125	.	C	CGGGGGGGGGGGGG,CGGGGGGGGGGGGGGGG,CGGGGGGGGGGG,CGGGGGGGGGGGGGGGGGGG	385.35	.	AC=1,2,1,1;AF=0.024,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.707e+00;DP=1071;ExcessHet=1.1607;FS=130.157;InbreedingCoeff=-0.1383;MLEAC=1,2,1,1;MLEAF=0.024,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=1.75;ReadPosRankSum=-2.336e+00;SOR=7.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:53,0,0,0,0:53:99:.:.:0,120,1800,120,1800,1800,120,1800,1800,1800,120,1800,1800,1800,1800	16	0	1	0
chr4	15004125	15004125	-	GGGGGGGGGGGGGGGG	exonic	CPEB2	.	frameshift insertion	CPEB2:NM_001177381:exon1:c.1452_1453insGGGGGGGGGGGGGGGG:p.F488Gfs*69	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.54e-05	0.0002	1.458e-05	1.623e-05	0.0001	9.9e-06	8.4e-06	2.879e-05	1.498e-05	0.0001	0	4.257e-05	3.181e-05	2.121e-05	0	1.319e-05	1.792e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	385.35	44	chr4	15004125	.	C	CGGGGGGGGGGGGG,CGGGGGGGGGGGGGGGG,CGGGGGGGGGGG,CGGGGGGGGGGGGGGGGGGG	385.35	.	AC=1,2,1,1;AF=0.024,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.707e+00;DP=1071;ExcessHet=1.1607;FS=130.157;InbreedingCoeff=-0.1383;MLEAC=1,2,1,1;MLEAF=0.024,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=1.75;ReadPosRankSum=-2.336e+00;SOR=7.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:53,0,0,0,0:53:99:.:.:0,120,1800,120,1800,1800,120,1800,1800,1800,120,1800,1800,1800,1800	16	0	1	0
chr4	15004125	15004125	-	GGGGGGGGGGG	exonic	CPEB2	.	frameshift insertion	CPEB2:NM_001177381:exon1:c.1452_1453insGGGGGGGGGGG:p.F488Gfs*22	.	.	373	1134	5	0	10	15	0.00219974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0031	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0004	8.738e-05	0.0004	0.0002	0.0001	0.0002	0.0002	0.0001	2.584e-05	6.656e-06	0.0001	1.299e-05	0	2.421e-05	0	0	.	.	2.421e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	385.35	44	chr4	15004125	.	C	CGGGGGGGGGGGGG,CGGGGGGGGGGGGGGGG,CGGGGGGGGGGG,CGGGGGGGGGGGGGGGGGGG	385.35	.	AC=1,2,1,1;AF=0.024,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.707e+00;DP=1071;ExcessHet=1.1607;FS=130.157;InbreedingCoeff=-0.1383;MLEAC=1,2,1,1;MLEAF=0.024,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=1.75;ReadPosRankSum=-2.336e+00;SOR=7.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:53,0,0,0,0:53:99:.:.:0,120,1800,120,1800,1800,120,1800,1800,1800,120,1800,1800,1800,1800	16	0	1	0
chr4	15004125	15004125	-	GGGGGGGGGGGGGGGGGGG	exonic	CPEB2	.	frameshift insertion	CPEB2:NM_001177381:exon1:c.1452_1453insGGGGGGGGGGGGGGGGGGG:p.F488Gfs*70	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.666e-06	5.542e-05	4.373e-06	2.951e-06	3.623e-05	1.07e-06	7.8e-07	3.1e-07	1.2e-07	3.623e-05	0	4.257e-05	0	0	0	1.885e-06	1.792e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	385.35	44	chr4	15004125	.	C	CGGGGGGGGGGGGG,CGGGGGGGGGGGGGGGG,CGGGGGGGGGGG,CGGGGGGGGGGGGGGGGGGG	385.35	.	AC=1,2,1,1;AF=0.024,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.707e+00;DP=1071;ExcessHet=1.1607;FS=130.157;InbreedingCoeff=-0.1383;MLEAC=1,2,1,1;MLEAF=0.024,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=1.75;ReadPosRankSum=-2.336e+00;SOR=7.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:53,0,0,0,0:53:99:.:.:0,120,1800,120,1800,1800,120,1800,1800,1800,120,1800,1800,1800,1800	16	0	1	0
chr4	15004134	15004137	CTTC	-	exonic	CPEB2	.	frameshift deletion	CPEB2:NM_001177381:exon1:c.1461_1464del:p.F488Afs*17	.	.	374	1147	1	0	0	1	0.00043573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0025	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	8.687e-05	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0001	0.0003	0	1.999e-05	0.0003	2.604e-05	1.365e-05	6.581e-05	5.32e-06	2.47e-06	.	.	0	0	6.581e-05	0	0	9.682e-05	0	1.495e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	157.16	64	chr4	15004133	.	GCTTC	G	157.16	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.030e-01;DP=1268;ExcessHet=0.0000;FS=86.640;InbreedingCoeff=-0.0342;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=3.27;ReadPosRankSum=-2.566e+00;SOR=5.546	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:68,0:68:99:.:.:0,120,1800	20	0	1	0
chr4	15004137	15004137	-	GGGG	exonic	CPEB2	.	frameshift insertion	CPEB2:NM_001177381:exon1:c.1464_1465insGGGG:p.P491Rfs*62	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.402e-05	0.0002	1.364e-05	1.442e-05	6.864e-05	2.33e-06	8.7e-07	.	.	0	0	6.864e-05	0	0	0	0	1.553e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04545	77.89	34	chr4	15004137	.	C	CGGGG	77.89	.	AC=1;AF=0.045;AN=22;DP=787;ExcessHet=0.0000;FS=76.152;InbreedingCoeff=-0.1723;MLEAC=2;MLEAF=0.091;MQ=60.00;MQRankSum=0.00;QD=1.69;ReadPosRankSum=-3.295e+00;SOR=5.279	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:42:.:.:0,42,1100	10	0	1	10
chr4	15540994	15540994	C	T	exonic	CC2D2A	.	nonsynonymous SNV	CC2D2A:NM_001378617:exon15:c.C2014T:p.P672S	COACH syndrome, Autosomal recessive;Joubert syndrome 9, Autosomal recessive;Meckel syndrome 6, Autosomal recessive	.	3	1500	16	3	0	22	0.00727995	.	.	191984	Meckel-Gruber_syndrome|Familial_aplasia_of_the_vermis|Joubert_syndrome_1|not_specified|not_provided|Meckel_syndrome,_type_6	MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012848,MedGen:C2676790,OMIM:612284,Orphanet:564	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.61	M	-2.14	D	0.797	D	0.808	D	0.981	4.823	27.3	4.94	2.451	7.578	18.528	0.955	.	0.0003	0.00399361	0.0053	0	0.0026	0	0	0.0032	0.0048	0.0120	0.0011966	185	154602	rs199768782	0.0017	0.0016	0.0014	0.0019	0.0099	0.0016	0.0016	0.0093	0.0091	0.0003	0.0005	0.0080	2.8e-05	2.03e-05	0.0060	0.0011	0.0022	0.0099	0.0011	0.0011	0.0010	0.0013	0.0127	0.0010	0.0009	0.0101	0.0092	0.0001	0	0.0009	0.0078	0	0	0	0.0009	0.0019	0.0127	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.695	0.78878	M	-2.14	0.86415	D	-6.12	0.90060	D	0.98	0.99015	0.797	0.94374	D	0.808	0.93515	D	10	0.033253044	0.01496	T	.	.	.	0.955	0.99221	.	.	0.971080275067	0.97077	0.7533763064890243	0.75284	0.304595107868	0.32764	0.565320968628	0.48018	T	0.727191	0.92335	D	0.110485	0.65404	D	0.39389	0.91911	D	0.0673970474467973	0.08280	T	0.90041	0.65400	D	0.79635006	0.83673	0.80519795	0.88596	0.8174664	0.85051	0.7884969	0.87553	-12.273	0.86155	D	0.5879459662494746	0.65473	0.954	0.87349	P	.;.	.;.	4.698320	0.75353	26.3	0.99922440006476421	0.98852	0.94860	0.62581	D	AEFBHCI	0.876338	0.80028	D	0.842543671979608	0.88679	9.669978	0.789894522278762	0.89082	9.831114	0.999999999266972	0.74766	0.624846	0.39970	0	0.588015	0.36545	0	0.650271	0.49498	0	0.635551	0.53088	0	.	.	4.94	4.94	0.64645	7.641000	0.82513	7.549000	0.60236	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	18.528	0.90930	609	0.67094	CC2D2A, N-terminal, C2 domain;CC2D2A, N-terminal, C2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1109.98	37	chr4	15540994	.	C	T	1109.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.96;DP=769;ExcessHet=0.0000;FS=4.511;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.60;ReadPosRankSum=2.81;SOR=1.221	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1197	20	0	1	0
chr4	15688136	15688136	C	T	exonic	FAM200B	.	nonsynonymous SNV	FAM200B:NM_001145191:exon2:c.C1159T:p.R387C,	.	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	.	.	0.950	N	2.25	M	0.5	T	-0.873	T	0.216	T	0.829	1.736	11.77	1.76	0.669	-0.315	5.178	0.274	0.00660427240239	.	0.000399361	0.0008	0	0.0024	0.0016	0	0.0002	0	0.0015	0.0001035	16	154602	rs188407400	0.0003	0.0003	0.0003	0.0004	0.0062	0.0003	0.0003	0.0045	0.0040	0.0006	0.0010	0.0005	0.0002	2.03e-05	0.0062	0.0002	0.0007	0.0013	0.0004	0.0004	0.0004	0.0003	0.0020	0.0003	0.0003	0.0015	0.0013	0.0001	0	0.0020	0.0003	0.0006	0	0.0034	0.0002	0.0009	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.949795	0.26525	N	2.825	0.82220	M	0.5	0.55608	T	-7.37	0.94674	D	0.255	0.30118	-0.8729	0.50310	T	0.216	0.57745	T	8	0.034727782	0.01691	T	0.006604	0.17415	T	0.274	0.59007	.	.	0.229924730088	0.22615	0.4268844138963729	0.42605	.	.	0.298779249191	0.10220	T	0.102556	0.41040	T	-0.150828	0.28183	T	-0.0349821	0.68037	D	0.209553130412703	0.20930	T	0.890911	0.62511	D	0.46962094	0.65266	0.36781144	0.62083	0.46962094	0.65267	0.36781144	0.62083	-6.374	0.49307	T	.	.	0.097	0.18622	B	.;.	.;.	2.626712	0.34148	19.55	0.99891639898632456	0.96589	0.02065	0.06157	N	AEFDGBIJ	.	.	.	-0.00445208269225672	0.41654	2.495326	-0.211078748797485	0.31136	1.759358	0.999992373768661	0.74766	0.562547	0.31514	0	0.601575	0.49859	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	2.62	1.76	0.23776	-0.682000	0.05286	-2.822000	0.03326	0.545000	0.25583	0.002000	0.15269	0.000000	0.08366	0.984000	0.60418	0.0:0.8317:0.0:0.1683	5.178	0.14471	542	0.72843	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2160.98	35	chr4	15688136	.	C	T	2160.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=1318;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=0.085;SOR=0.727	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1125	20	0	1	0
chr4	15707565	15707565	C	T	exonic	BST1	.	nonsynonymous SNV	BST1:NM_004334:exon3:c.C370T:p.R124C,	.	.	426	1095	1	0	0	1	0.000456413	.	.	748785	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.893	P	0.000	D	1.000	N	2.445	M	2.29	T	-1.056	T	0.070	T	0.665	2.313	13.69	3.8	0.683	2.176	9.032	0.185	.	0.0002	0.00379393	0.0011	0.0002	8.637e-05	0.0121	0	4.495e-05	0	0.0012	0.0010479	162	154602	rs78449217	0.0005	0.0005	0.0004	0.0005	0.0085	0.0004	0.0004	0.0078	0.0075	5.974e-05	6.708e-05	0	0.0085	0	0	0.0001	0.0017	0.0011	0.0006	0.0006	0.0005	0.0007	0.0110	0.0005	0.0005	0.0087	0.0079	7.231e-05	0	0.0002	0	0.0110	0	0	0.0001	0.0019	0.0029	0.004	0.65419	D	0.007	0.70582	D	1.0	0.90584	D	0.893	0.63340	P	0.000100	0.51296	D	0.179398	0.999591	0.20909	N	2.67	0.78151	M	2.29	0.17113	T	-5.32	0.86222	D	0.589	0.60918	-1.0561	0.12750	T	0.070	0.28412	T	10	0.007687807	0.00175	T	.	.	.	0.185	0.45933	.	.	0.295623431141	0.29171	0.4096348298986675	0.40879	0.761930771013	0.64304	0.355303823948	0.18701	T	0.298655	0.67121	T	-0.358798	0.04198	T	-0.277777	0.47030	T	0.0880196955693085	0.10981	T	0.872413	0.58632	D	0.55357164	0.70154	0.47671518	0.69681	0.55357164	0.70155	0.47671518	0.69681	-4.16	0.26170	T	.	.	0.257	0.56449	B	.;.	.;.	3.546677	0.49836	22.8	0.99880830426995759	0.95733	0.08290	0.14238	N	ALL	0.192850	0.31999	N	0.100854153002482	0.46501	2.889625	-0.0857863271747508	0.35977	2.08796	0.999999930865036	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.53	3.8	0.42887	2.244000	0.42775	3.938000	0.40583	0.599000	0.40250	0.052000	0.21487	0.237000	0.23824	0.174000	0.21107	0.1674:0.6716:0.161:0.0	9.032	0.35429	634	0.64659	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1699.98	35	chr4	15707565	.	C	T	1699.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.230e-01;DP=863;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.06;ReadPosRankSum=-1.326e+00;SOR=0.709	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1070	20	0	1	0
chr4	15962801	15962801	G	A	exonic	FGFBP2	.	nonsynonymous SNV	FGFBP2:NM_031950:exon1:c.C329T:p.P110L,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.613	P	0.17	B	0.021	U	1.000	N	0.345	N	2.56	T	-1.014	T	0.016	T	0.178	0.601	7.238	2.98	1.175	0.471	3.970	0.021	0.00344296337646	0.0002	0.000199681	0.0005	0	0	0	0.0033	0.0006	0	8.723e-05	0.0004204	65	154602	rs201297539	0.0003	0.0003	0.0003	0.0003	0.0002	0.0003	0.0003	0.0002	0.0002	3.058e-05	2.382e-05	0	2.545e-05	0.0031	0.0002	0.0002	0.0003	6.04e-05	0.0004	0.0004	0.0003	0.0006	0.0005	0.0003	0.0003	0.0004	0.0003	2.405e-05	0	0	0	0	0.0026	0	0.0005	0.0005	0	0.16	0.23721	T	0.0	0.92824	D	0.613	0.39753	P	0.17	0.35299	B	0.020847	0.26953	U	0.292468	1	0.08975	N	0.55	0.14455	N	2.56	0.13673	T	-2.08	0.47514	N	0.124	0.11626	-1.0137	0.25752	T	0.016	0.06329	T	10	0.010526866	0.00234	T	0.003443	0.07755	T	0.021	0.04004	.	.	0.232513804876	0.22884	0.1453532549891838	0.14458	0.186762890968	0.20985	0.328131169081	0.14652	T	0.00354	0.02950	T	-0.558605	0.00259	T	-0.641294	0.09575	T	0.0246854217146879	0.01231	T	0.533547	0.17787	T	0.04332228	0.06732	0.05741088	0.10430	0.04332228	0.06731	0.05741088	0.10430	-3.833	0.21298	T	.	.	0.129	0.27672	B	.	.	1.219670	0.16134	12.34	0.98251154422596076	0.39576	0.03024	0.07904	N	AEFDBCI	0.044576	0.07187	N	-0.608600677885278	0.18686	0.972068	-0.666841463206051	0.17791	0.9476232	0.981533446236117	0.30276	0.553676	0.25195	0	0.588015	0.36545	0	0.574621	0.27300	0	0.542086	0.14980	0	.	.	2.98	2.98	0.33575	0.558000	0.23174	0.946000	0.22888	0.662000	0.56354	0.001000	0.13787	0.005000	0.19230	0.015000	0.10482	0.1351:0.0:0.6061:0.2589	3.970	0.08940	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1726.98	48	chr4	15962801	.	G	A	1726.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.65;DP=1343;ExcessHet=0.0000;FS=6.577;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=1.00;SOR=0.348	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	20	0	1	0
chr4	16226370	16226370	C	T	exonic	TAPT1	.	nonsynonymous SNV	TAPT1:NM_153365:exon1:c.G88A:p.E30K,	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type, Autosomal recessive	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	T	0.817	P	0.345	B	0.510	U	1.000	D	0.69	N	1.61	T	-1.118	T	0.047	T	0.261	1.781	11.91	3.4	1.441	0.229	11.682	0.044	0.087459002675	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1322095852	3.021e-05	2.531e-05	1.966e-05	4.21e-05	0.0013	2.119e-05	1.832e-05	0.0009	0.0008	0	0	0	0	0	0.0004	2.371e-06	5.721e-05	0.0013	3.366e-05	3.297e-05	1.314e-05	5.523e-05	0.0010	1.284e-05	8.15e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.518	0.07307	T	0.882	0.03205	T	0.025	0.19245	B	0.003	0.08700	B	0.510174	0.11853	U	0.746692	1	0.81001	D	0.345	0.11182	N	1.61	0.28391	T	-0.2	0.10136	N	0.097	0.07811	-1.1177	0.02482	T	0.047	0.19998	T	10	0.061424315	0.07699	T	0.087459	0.74940	D	0.044	0.11924	0.265	0.21103	0.117191471859	0.11215	0.37500536037516485	0.37414	0.355003799051	0.37268	0.82734644413	0.86156	D	0.031144	0.21906	T	-0.222346	0.17674	T	-0.557161	0.16644	T	0.0913135076906388	0.11373	T	0.589341	0.21633	T	0.1263552	0.29597	0.11690993	0.28223	0.1263552	0.29597	0.11690993	0.28222	-6.234	0.48197	T	.	.	0.116	0.23360	B	.	.	2.379202	0.30541	18.47	0.95536599229780828	0.27178	0.01253	0.04406	N	ALL	0.118536	0.23174	N	-0.671145535965272	0.16848	0.8619307	-0.65511341039063	0.18087	0.9647204	0.999999998674074	0.74766	0.524318	0.21684	1	0.218748	0.04544	0	0.239995	0.05000	1	0.492483	0.08430	1	.	.	3.4	3.4	0.38031	0.149000	0.16062	4.620000	0.44072	0.422000	0.20808	0.001000	0.13787	1.000000	0.68203	0.016000	0.10718	0.0:1.0:0.0:0.0	11.682	0.50729	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	360.99	30	chr4	16226370	.	C	T	360.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.815;DP=543;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0252;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=-1.470e-01;SOR=0.895	GT:AD:DP:GQ:PL	0/0:28,0:28:69:0,69,1035	20	0	1	0
chr4	17652971	17652971	G	A	exonic	FAM184B	.	nonsynonymous SNV	FAM184B:NM_015688:exon11:c.C2050T:p.R684C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.01	B	0.003	B	0.211	N	1.000	N	0.945	L	1.27	T	-1.046	T	0.043	T	0.211	2.993	15.98	3.07	0.606	1.369	7.666	0.028	.	.	0.000998403	0.0013	0	0	0	0.0208	0.0025	0	0.0003	0.0003428	53	154602	rs191859569	0.0012	0.0011	0.0011	0.0012	0.0010	0.0011	0.0011	0.0010	0.0010	6.33e-05	0	0	2.798e-05	0.0092	0	0.0010	0.0007	3.786e-05	0.0015	0.0015	0.0013	0.0016	0.0020	0.0013	0.0012	0.0017	0.0016	9.622e-05	0	0	0	0	0.0078	0	0.0020	0	0.0002	0.076	0.34269	T	0.042	0.50226	D	0.01	0.15535	B	0.003	0.08700	B	0.211294	0.16359	N	0.616100	0.999961	0.18878	N	1.9	0.50570	L	1.27	0.36146	T	-3.89	0.72820	D	0.144	0.14480	-1.0461	0.15505	T	0.043	0.18701	T	10	0.0043787956	0.00089	T	.	.	.	0.028	0.06331	.	.	0.242825505644	0.23883	0.2874959723166953	0.28662	.	.	0.32935500145	0.14837	T	0.360953	0.72711	T	-0.528582	0.00392	T	-0.530957	0.19191	T	0.0471548276628772	0.04992	T	0.785621	0.42343	T	0.10337242	0.24434	0.1275654	0.30704	0.10337242	0.24434	0.1275654	0.30704	-8.506	0.64469	D	.	.	0.104	0.18787	B	.	.	3.731058	0.53370	23.4	0.99877269315745776	0.95410	0.22063	0.21619	N	AEFBI	0.086007	0.17438	N	-0.511480135395555	0.21708	1.154039	-0.430397308921925	0.24111	1.318464	3.92250247432376E-4	0.06820	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.83	3.07	0.34476	1.558000	0.35917	4.110000	0.41913	0.676000	0.76740	0.404000	0.26202	0.895000	0.27885	0.990000	0.65344	0.2838:0.0:0.7162:0.0	7.666	0.27595	697	0.58201	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	880.98	34	chr4	17652971	.	G	A	880.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.900e-01;DP=769;ExcessHet=0.0000;FS=1.834;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.88;ReadPosRankSum=0.312;SOR=0.954	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1113	20	0	1	0
chr4	18021696	18021707	GCGGCGGCGGCA	-	exonic	LCORL	.	nonframeshift deletion	LCORL:NM_001166139:exon1:c.45_56del:p.A19_A22del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1406435357	1.448e-05	1.369e-05	1.143e-05	1.761e-05	0.0002	9.46e-06	7.69e-06	1.115e-05	4.17e-06	6.733e-05	3.14e-05	4.111e-05	5.746e-05	0	0.0002	1.025e-05	0	2.571e-05	3.294e-05	3.287e-05	0	6.745e-05	7.251e-05	1.263e-05	8e-06	1.923e-05	1.033e-05	7.251e-05	0	0	0	0	0	0	2.946e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2025.94	33	chr4	18021695	.	GGCGGCGGCGGCA	G	2025.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.80;DP=831;ExcessHet=0.0000;FS=3.637;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.67;ReadPosRankSum=0.418;SOR=1.066	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1078	20	0	1	0
chr4	20617635	20617635	G	C	exonic	SLIT2	.	nonsynonymous SNV	SLIT2:NM_001289135:exon35:c.G4321C:p.D1441H	.	.	444	1068	10	0	0	10	0.00465983	.	.	2128524	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.1	T	0.736	P	0.372	B	0.000	D	1.000	D	1.14	L	-1.35	T	-0.227	T	0.418	T	0.391	3.931	20.0	5.61	2.643	7.682	19.656	0.410	0.0654419089756	0.0011	.	0.0011	0	0.0004	0	0	0.0019	0.0027	0.0003	0.0008409	130	154602	rs141897818	0.0006	0.0006	0.0006	0.0007	0.0027	0.0006	0.0006	0.0016	0.0012	5.986e-05	0.0002	0.0167	0	0	0.0027	0.0003	0.0015	0.0008	0.0005	0.0005	0.0005	0.0006	0.0004	0.0004	0.0004	0.0002	0.0002	0	0	0.0001	0.0132	0	0	0.0068	0.0004	0.0005	0.0004	0.054	0.38633	T	0.036	0.52389	D	0.003	0.42845	B	0.012	0.43610	B	0.000005	0.62929	D	0.140695	0.999994	0.58761	D	1.39	0.34934	L	-1.42	0.80730	T	-1.21	0.30762	N	0.578	0.59986	-0.2269	0.76969	T	0.418	0.76408	T	10	0.011024505	0.00243	T	0.065442	0.69580	D	0.410	0.72176	.	.	0.566278572614	0.56292	0.3901267687069106	0.38927	0.673258825652	0.59583	0.396597802639	0.24595	T	0.24698	0.61654	T	-0.193066	0.21808	T	-0.145188	0.59667	T	0.0817507681222078	0.10211	T	0.778722	0.44372	T	0.10534025	0.24906	0.18189037	0.41081	0.10534025	0.24906	0.18189037	0.41080	-10.27	0.75513	D	.	.	0.174	0.38318	B	.;.;.;.;.	.;.;.;.;.	3.957423	0.58015	23.9	0.99615558765476209	0.75112	0.98392	0.82308	D	AEFBI	0.903494	0.85264	D	0.285743037775079	0.55424	3.706601	0.438347105495638	0.63972	4.642092	0.999999999266142	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.61	5.61	0.85347	7.806000	0.84575	10.040000	0.83183	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.850000	0.40195	0.0:0.0:1.0:0.0	19.656	0.95833	817	0.41665	.;EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like domain;EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like domain;EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	904.98	70	chr4	20617635	.	G	C	904.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.700e-02;DP=773;ExcessHet=0.0000;FS=2.164;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=-7.700e-02;SOR=1.085	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1304	20	0	1	0
chr4	22747325	22747325	G	A	exonic	GBA3	.	unknown	UNKNOWN,	.	.	422	1027	68	5	0	78	0.0365854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0059	0.00898562	0.0097	0.0015	0.0022	0.0001	0.0064	0.0082	0.0136	0.0333	0.0089844	1389	154602	rs187070546	0.0078	0.0078	0.0068	0.0088	0.0298	0.0076	0.0076	0.0288	0.0285	0.0007	0.0032	0.0192	0.0002	0.0070	0.0229	0.0064	0.0085	0.0298	0.0062	0.0062	0.0056	0.0068	0.0299	0.0059	0.0058	0.0259	0.0244	0.0010	0.0077	0.0040	0.0150	0.0002	0.0067	0.0170	0.0081	0.0071	0.0299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416	0.45615	.	.	.	.	.	.	.	0.0077457726	0.00176	T	.	.	.	.	.	.	.	0.590936018357	0.58769	.	.	.	.	0.394991517067	0.24370	T	.	.	.	-0.538857	0.00340	T	-0.525178	0.19772	T	.	.	.	0.965953	0.87464	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.20663	B	.	.	2.545635	0.32935	19.19	0.99581465725826057	0.73040	0.87301	0.46799	D	AEFI	0.690707	0.65095	D	.	.	.	.	.	.	2.13531608868602E-4	0.05997	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.62	5.62	0.85714	2.773000	0.47370	6.605000	0.56069	0.676000	0.76740	0.977000	0.34929	1.000000	0.68203	0.984000	0.60418	0.188:0.0:0.812:0.0	9.88	0.40396	836	0.38045	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	368.98	33	chr4	22747325	.	G	A	368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.423e+00;DP=736;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.58;ReadPosRankSum=-9.680e-01;SOR=0.684	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1157	20	0	1	0
chr4	23813780	23813780	C	T	exonic	PPARGC1A	.	nonsynonymous SNV	PPARGC1A:NM_001330753:exon7:c.G1322A:p.R441H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.923	P	0.197	B	0.000	D	1.000	D	2.28	M	0.99	T	-0.842	T	0.125	T	0.486	3.251	16.90	5.32	1.611	3.493	17.664	0.101	0.0106794832021	.	.	1.651e-05	0	8.661e-05	0	0	1.501e-05	0	0	1.29e-05	2	154602	rs767722215	2.122e-05	2.257e-05	2.315e-05	1.926e-05	2.52e-05	1.521e-05	1.325e-05	1.747e-05	1.504e-05	0	2.236e-05	0	2.52e-05	0	0	2.519e-05	1.656e-05	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	2.414e-05	2.19e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	1.47e-05	0	0	0.037	0.43085	D	0.012	0.63918	D	0.923	0.51194	P	0.197	0.36707	B	0.000013	0.62929	D	0.151171	0.999993	0.58761	D	2.045	0.56016	M	0.99	0.41750	T	-2.04	0.46842	N	0.219	0.29429	-0.8423	0.52493	T	0.125	0.42903	T	10	0.2892067	0.46502	T	0.010679	0.27493	T	0.101	0.28911	0.244	0.17830	0.473786764527	0.47009	0.1914486806013194	0.19062	0.268764524174	0.29397	0.464526027441	0.33930	T	0.471349	0.80408	T	-0.197063	0.21228	T	-0.351715	0.39008	T	0.698980331420898	0.40670	D	0.965803	0.87368	D	0.1701599	0.37575	0.12542795	0.30221	0.1701599	0.37574	0.12542795	0.30221	-6.742	0.52126	T	.	.	0.112	0.23500	B	.;.	.;.	5.410074	0.90561	31	0.9970831713007382	0.81143	0.94721	0.62102	D	AEFBI	0.699247	0.65665	D	0.405720027305195	0.61736	4.378818	0.459821592983369	0.65351	4.812705	0.999998618468188	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.16	5.32	0.75377	4.489000	0.60035	3.342000	0.37715	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.8771:0.1229:0.0	17.664	0.88104	505	0.75648	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1380.98	35	chr4	23813780	.	C	T	1380.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.013;DP=859;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.54;ReadPosRankSum=0.610;SOR=0.722	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1139	20	0	1	0
chr4	25664312	25664312	G	A	exonic	SLC34A2	.	nonsynonymous SNV	SLC34A2:NM_001177998:exon4:c.G358A:p.A120T	Pulmonary alveolar microlithiasis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1487913	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.999	D	0.981	D	0.000	D	1.000	D	2.79	M	-2.1	D	0.789	D	0.816	D	0.949	4.991	29.3	5.35	2.678	9.640	19.440	0.927	0.142610414761	.	0.000199681	2.471e-05	0.0002	0	0	0	1.498e-05	0	0	2.59e-05	4	154602	rs565847214	8.893e-06	8.893e-06	5.445e-06	1.238e-05	0.0002	4.96e-06	3.82e-06	9.89e-06	3.7e-06	5.974e-05	0	0	0	7.488e-05	0.0002	3.597e-06	1.656e-05	1.159e-05	4.6e-05	4.594e-05	6.428e-05	2.689e-05	9.638e-05	2.11e-05	1.527e-05	3.246e-05	1.913e-05	9.638e-05	0	0	0	0	0	0	1.47e-05	0.0009	0	0.002	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.958	0.75168	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.43	0.70455	M	-2.1	0.86146	D	-3.82	0.71997	D	0.926	0.93018	0.789	0.94276	D	0.816	0.93790	D	10	0.94741523	0.94070	D	0.14261	0.82498	D	0.927	0.98229	0.843	0.94784	0.982156109564	0.98196	0.8008649063447094	0.80040	0.852694544068	0.68618	0.488183408976	0.37186	T	0.792446	0.94622	D	0.228844	0.76612	D	0.370377	0.91088	D	0.904381453990936	0.55784	D	0.881212	0.75104	D	0.73592055	0.80059	0.7985064	0.88175	0.73592055	0.80061	0.7985064	0.88176	-9.743	0.72359	D	0.7540178067066432	0.83604	0.334	0.69791	B	.;.;.;.;.;.	.;.;.;.;.;.	4.850508	0.79284	27.1	0.99897273828797384	0.96971	0.99406	0.95621	D	AEFBI	0.918709	0.88816	D	0.939488826527691	0.93555	12.11786	0.888332605070558	0.95042	13.26146	0.999999999999979	0.74766	0.559995	0.30671	0	0.547309	0.14657	0	0.527494	0.11647	0	0.542086	0.14980	0	.	.	5.35	5.35	0.76297	9.805000	0.98252	7.447000	0.58926	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.687000	0.33748	0.0:0.0:1.0:0.0	19.440	0.94805	929	0.16858	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1079.98	38	chr4	25664312	.	G	A	1079.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.421e+00;DP=799;ExcessHet=0.0000;FS=0.754;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=-8.600e-01;SOR=0.810	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1183	20	0	1	0
chr4	25822001	25822001	C	T	exonic	SEL1L3	.	nonsynonymous SNV	SEL1L3:NM_001297592:exon7:c.G1180A:p.A394T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.0	B	0.0	B	0.895	N	1.000	N	0.84	L	2.29	T	-0.952	T	0.018	T	0.08	0.359	5.949	0.124	-0.335	0.036	5.793	0.012	0.00627201170531	0.0004	0.000998403	0.0002	0.0023	0.0002	0	0	3.313e-05	0	0	0.0002005	31	154602	rs115625644	7.255e-05	7.319e-05	7.763e-05	6.743e-05	0.0017	6.118e-05	5.703e-05	0.0014	0.0012	0.0017	0.0001	0	0	0	0.0004	3.329e-05	6.63e-05	0	0.0005	0.0005	0.0005	0.0005	0.0016	0.0004	0.0004	0.0013	0.0012	0.0016	0	0.0003	0	0	0	0	5.881e-05	0	0	0.212	0.19500	T	0.237	0.24621	T	0.0	0.02946	B	0.0	0.01387	B	0.894549	0.08663	N	0.956909	1	0.08975	N	-0.145	0.04423	N	2.29	0.17113	T	-0.23	0.11185	N	0.037	0.03069	-0.9523	0.40573	T	0.018	0.07565	T	10	0.0055663288	0.00123	T	0.006272	0.16464	T	0.012	0.01476	.	.	0.0675242888579	0.06100	0.482423174910343	0.48162	0.175824266689	0.19791	0.279352009296	0.07402	T	0.00486	0.04280	T	-0.676122	0.00051	T	-0.751243	0.03437	T	0.00395257405195869	0.00042	T	0.652235	0.26282	T	0.033795282	0.03668	0.036620162	0.03146	0.033795282	0.03668	0.036620162	0.03145	-2.736	0.08739	T	.	.	0.068	0.05317	B	.;.;.	.;.;.	1.453306	0.18743	13.90	0.81964385836383902	0.13949	0.03209	0.08210	N	AEFDBCI	0.027526	0.02265	N	-1.25037491042577	0.04294	0.1935561	-1.22049069993413	0.05582	0.2663356	0.998327150528943	0.36758	0.741868	0.97996	0	0.709663	0.81188	0	0.774882	0.98623	0	0.714379	0.83352	0	.	.	5.81	0.124	0.14016	0.252000	0.18046	-0.352000	0.09737	-0.974000	0.01926	0.001000	0.13787	0.000000	0.08366	0.102000	0.18378	0.0:0.5196:0.1245:0.356	5.793	0.17635	873	0.30802	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	731.98	35	chr4	25822001	.	C	T	731.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.705;DP=743;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.91;ReadPosRankSum=-4.190e-01;SOR=0.628	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1102	20	0	1	0
chr4	25862787	25862789	TGC	-	exonic	SEL1L3	.	nonframeshift deletion	SEL1L3:NM_015187:exon1:c.48_50del:p.Q17del,	.	.	477	1035	9	0	1	10	0.004329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1370347220	1.832e-05	0.0004	1.097e-05	2.651e-05	2.015e-05	1.171e-05	9.44e-06	1.259e-05	1.039e-05	0	0	0	0	0	0	2.015e-05	2.485e-05	0	6.712e-06	1.979e-05	1.309e-05	0	.	0	0	.	.	0	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	40.01	12	chr4	25862786	.	TTGC	T	40.01	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.970e-01;DP=255;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0288;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=3.33;ReadPosRankSum=0.646;SOR=0.693	GT:AD:DP:GQ:PL	0/0:12,0:12:36:0,36,328	20	0	1	0
chr4	26673793	26673793	A	G	exonic	TBC1D19	.	nonsynonymous SNV	TBC1D19:NM_001292054:exon8:c.A526G:p.S176G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.001	B	0.001	B	0.000	D	1.000	D	1.43	L	1.5	T	-1.097	T	0.029	T	0.236	2.564	14.53	5.1	2.056	5.570	15.189	0.090	.	0.0077	0.00798722	0.0021	0.0246	0.0003	0	0	3.173e-05	0.0012	6.595e-05	0.0019469	301	154602	rs16878555	0.0006	0.0006	0.0007	0.0005	0.0234	0.0006	0.0006	0.0220	0.0215	0.0234	0.0007	0	0	0	0.0005	1.535e-05	0.0012	6.97e-05	0.0064	0.0065	0.0067	0.0062	0.0226	0.0061	0.0060	0.0214	0.0209	0.0226	0	0.0019	0	0	0	0	2.942e-05	0.0047	0.0002	0.118	0.34982	T	0.211	0.35205	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.84330	D	0.039134	0.999995	0.58761	D	2.045	0.56016	M	0.91	0.46028	T	-0.72	0.22944	N	0.184	0.19995	-1.0974	0.04420	T	0.029	0.12497	T	10	0.0053832233	0.00118	T	.	.	.	0.090	0.26093	.	.	0.553913597673	0.55050	0.47403113405047187	0.47322	0.269854934135	0.29508	0.493964850903	0.37989	T	0.03936	0.25161	T	-0.51212	0.00488	T	-0.489477	0.23448	T	0.0120411407257514	0.00190	T	0.835616	0.50622	T	0.21552318	0.43987	0.17673543	0.40228	0.21552318	0.43987	0.17673543	0.40227	-4.639	0.32658	T	.	.	0.219	0.54761	B	.;.;.;.	.;.;.;.	2.884514	0.38179	20.7	0.99223959344419965	0.55994	0.97786	0.77123	D	AEFBI	0.488156	0.52660	N	0.00515367208645484	0.42089	2.529473	0.172264828668429	0.48332	3.050654	0.990472750754274	0.32165	0.615465	0.37627	0	0.588015	0.36545	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.1	5.1	0.68917	5.144000	0.64675	7.978000	0.76064	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	15.189	0.72714	751	0.51694	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2015.11	33	chr4	26673793	.	A	G	2015.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.33;DP=849;ExcessHet=0.1072;FS=2.612;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=-1.020e-01;SOR=0.506	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1181	19	0	2	0
chr4	30722771	30722771	G	A	exonic	PCDH7	.	nonsynonymous SNV	PCDH7:NM_001173523:exon1:c.G1349A:p.R450Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.984	D	.	.	0.994	D	1.465	L	0.64	T	-0.595	T	0.260	T	0.61	4.378	23.1	5.48	2.569	7.876	19.349	0.284	0.0174301157975	.	.	8.366e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs745880446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.566e-06	0	1.345e-05	2.411e-05	0	0	.	.	2.411e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.026	0.55759	D	1.0	0.90584	D	0.984	0.76113	D	.	.	.	.	0.994151	0.42180	D	1.575	0.39704	L	0.64	0.52867	T	-2.39	0.54546	N	0.564	0.60664	-0.5946	0.65036	T	0.260	0.63099	T	9	0.5881454	0.66228	D	0.01743	0.39125	T	0.284	0.60219	0.483	0.56462	0.581788271231	0.57850	0.6674010942959742	0.66678	.	.	0.770366609097	0.77480	T	0.064372	0.32416	T	0.00933874	0.52935	T	-0.224362	0.52315	T	0.920169174671173	0.57921	D	0.972203	0.89922	D	0.31691182	0.54378	0.2786529	0.53827	0.31691182	0.54378	0.2786529	0.53826	-6.725	0.51999	T	.	.	0.196	0.41738	B	.;.	.;.	4.919259	0.81005	27.4	0.99914431487748112	0.98309	0.92590	0.56070	D	AEFDGBCI	0.876994	0.80134	D	0.772639158315068	0.84368	8.268638	0.782213220073283	0.88531	9.616945	0.999999999998238	0.74766	0.65757	0.49021	0	0.59043	0.45803	0	0.619478	0.44681	0	0.372554	0.06265	0	.	.	5.48	5.48	0.80675	6.775000	0.74812	11.895000	0.99196	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.349	0.94365	488	0.76887	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2932.98	38	chr4	30722771	.	G	A	2932.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=979;ExcessHet=0.0000;FS=1.589;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=-6.560e-01;SOR=0.768	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,978	20	0	1	0
chr4	36082273	36082273	C	T	exonic	ARAP2	.	nonsynonymous SNV	ARAP2:NM_015230:exon30:c.G4522A:p.A1508T,	.	.	.	.	.	.	.	.	.	.	.	2338588	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.924	P	0.207	B	0.000	D	0.998	N	1.79	L	1.54	T	-0.937	T	0.074	T	0.586	3.288	17.04	5.96	2.826	4.050	15.901	0.117	0.00538946994197	0.0003	0.000199681	0.0004	0.0001	9.271e-05	0.0001	0	0.0005	0	0.0006	0.0003752	58	154602	rs141152965	0.0005	0.0006	0.0006	0.0005	0.0010	0.0005	0.0005	0.0006	0.0006	0.0001	0.0002	0	0	3.752e-05	0.0010	0.0006	0.0005	0.0006	0.0003	0.0003	0.0005	0.0002	0.0006	0.0003	0.0002	0.0005	0.0004	9.643e-05	0	6.561e-05	0	0.0004	0	0	0.0006	0.0005	0.0004	0.231	0.18246	T	0.191	0.28391	T	0.924	0.51285	P	0.207	0.37187	B	0.000056	0.53742	D	0.125719	0.997692	0.22549	N	2.075	0.57047	M	1.54	0.30133	T	-1.01	0.26639	N	0.546	0.57263	-0.9374	0.43025	T	0.074	0.29960	T	10	0.078894794	0.12630	T	0.005389	0.13832	T	0.117	0.32689	.	.	0.32082282376	0.31691	0.2867408789550032	0.28587	0.0288828046489	0.02972	0.529231250286	0.42926	T	0.177995	0.52849	T	-0.361284	0.04058	T	-0.390294	0.34516	T	0.130667992027455	0.15444	T	0.889511	0.62800	D	0.1324498	0.30841	0.12001981	0.28967	0.1324498	0.30840	0.12001981	0.28966	-5.94	0.45775	T	.	.	0.215	0.48177	B	.;.	.;.	4.335655	0.66470	25.0	0.99665323044157905	0.78202	0.73378	0.35894	D	AEFBI	0.256651	0.37553	N	0.330465135050144	0.57718	3.940291	0.367643179085011	0.59579	4.136799	0.999928269726338	0.46280	0.487112	0.14033	0	0.546412	0.12157	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.96	5.96	0.96695	4.120000	0.57646	7.683000	0.65396	0.530000	0.24713	0.670000	0.28348	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	15.901	0.79162	781	0.47532	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1024.98	34	chr4	36082273	.	C	T	1024.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.521;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=0.296;SOR=0.699	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1298	20	0	1	0
chr4	36229139	36229139	G	C	exonic	ARAP2	.	nonsynonymous SNV	ARAP2:NM_015230:exon2:c.C348G:p.S116R,	.	.	430	1045	44	3	0	50	0.0233645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.744	P	0.289	B	0.152	N	1.000	N	0.695	N	-0.16	T	-0.990	T	0.104	T	0.119	0.584	7.151	3.86	1.370	0.301	9.748	0.086	.	0.0031	0.00399361	0.0063	0.0010	0.0010	0	0.0074	0.0058	0.0154	0.0179	0.0058925	911	154602	rs34482185	0.0060	0.0060	0.0054	0.0067	0.0184	0.0059	0.0059	0.0176	0.0173	0.0008	0.0016	0.0134	2.519e-05	0.0095	0.0092	0.0053	0.0064	0.0184	0.0046	0.0046	0.0044	0.0048	0.0156	0.0043	0.0042	0.0127	0.0117	0.0007	0	0.0014	0.0161	0	0.0128	0.0034	0.0055	0.0047	0.0156	0.016	0.51853	D	0.29	0.21011	T	0.475	0.36638	P	0.188	0.36237	B	0.152104	0.17933	N	0.570963	1	0.08975	N	2.125	0.59049	M	-0.16	0.65378	T	-0.85	0.23156	N	0.199	0.21969	-0.9897	0.32677	T	0.104	0.38243	T	10	0.0038110316	0.00072	T	.	.	.	0.086	0.25016	0.116	0.02439	0.388495093706	0.38465	0.2546789361809776	0.25381	0.0264438352101	0.02702	0.278621405363	0.07301	T	0.010713	0.09649	T	-0.50069	0.00567	T	-0.477046	0.24761	T	0.00423517355016059	0.00045	T	0.608739	0.23025	T	0.09569906	0.22528	0.13272984	0.31843	0.09569906	0.22527	0.13272984	0.31842	-5.549	0.42324	T	.	.	0.140	0.30765	B	.	.	0.661489	0.10298	7.031	0.97686457425309436	0.35346	0.14229	0.18292	N	AEFGBI	0.059383	0.11212	N	-0.491741756843137	0.22351	1.192846	-0.539032563047357	0.21097	1.139682	0.999906336411245	0.45458	0.562547	0.31514	0	0.653731	0.59785	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.6	3.86	0.43689	0.504000	0.22335	0.387000	0.17845	0.672000	0.70159	0.007000	0.17678	0.000000	0.08366	0.018000	0.11154	0.1604:0.0:0.8396:0.0	9.748	0.39629	726	0.54788	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1707.98	35	chr4	36229139	.	G	C	1707.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.630e-01;DP=857;ExcessHet=0.0000;FS=0.606;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=0.214;SOR=0.635	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,101,1274	20	0	1	0
chr4	36229221	36229221	G	A	exonic	ARAP2	.	nonsynonymous SNV	ARAP2:NM_015230:exon2:c.C266T:p.P89L,	.	.	434	1056	30	2	0	34	0.0158434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.0	B	0.0	B	0.251	N	1.000	N	0.205	N	-0.06	T	-1.031	T	0.065	T	0.016	1.293	10.23	2.77	0.807	0.516	4.300	0.095	.	0.0110	0.00559105	0.0086	0.0098	0.0030	0.0001	0.0115	0.0117	0.0110	0.0025	0.0087062	1346	154602	rs35822395	0.0098	0.0098	0.0099	0.0097	0.0154	0.0096	0.0096	0.0129	0.0119	0.0117	0.0053	0.0047	0.0001	0.0122	0.0154	0.0109	0.0082	0.0023	0.0096	0.0096	0.0096	0.0095	0.0111	0.0092	0.0090	0.0104	0.0102	0.0103	0.0121	0.0062	0.0040	0	0.0105	0.0102	0.0111	0.0128	0.0027	0.094	0.31383	T	0.429	0.13752	T	0.0	0.02946	B	0.0	0.01387	B	0.251344	0.03649	N	1.525240	1	0.08975	N	0	0.06538	N	-0.06	0.63568	T	-0.94	0.25118	N	0.061	0.03283	-1.0306	0.20260	T	0.065	0.26948	T	10	0.0031697154	0.00053	T	.	.	.	0.095	0.27398	.	.	0.18995819373	0.18626	0.22016445479524357	0.21932	0.0250879662362	0.02552	0.228219985962	0.01839	T	0.003592	0.03000	T	-0.606973	0.00132	T	-0.63362	0.10141	T	0.00335767895251557	0.00035	T	0.79622	0.43953	T	0.036733206	0.04575	0.042625476	0.05121	0.036733206	0.04575	0.042625476	0.05120	-2.329	0.04716	T	.	.	0.063	0.01512	B	.	.	1.312951	0.17162	13.00	0.87722954674072384	0.17433	0.11363	0.16584	N	AEFGBI	0.068065	0.13411	N	-0.786696905977772	0.13656	0.6743126	-0.697816327164889	0.17015	0.902815	0.998985095291289	0.38135	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.94	2.77	0.31614	0.525000	0.22664	1.428000	0.26422	0.672000	0.70159	0.000000	0.06391	0.001000	0.17328	0.870000	0.41412	0.0782:0.1297:0.4379:0.3542	4.300	0.10364	726	0.54788	.	.	.	.	.	rs35822395	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1346.98	104	chr4	36229221	.	G	A	1346.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=814;ExcessHet=0.0000;FS=0.737;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=-1.106e+00;SOR=0.574	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,101,1274	20	0	1	0
chr4	36229459	36229459	C	T	exonic	ARAP2	.	nonsynonymous SNV	ARAP2:NM_015230:exon2:c.G28A:p.D10N,	.	.	441	1056	21	4	0	29	0.0135451	.	.	2822473	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.896	P	0.721	P	0.046	N	0.998	N	2.395	M	-0.05	T	-0.507	T	0.356	T	0.02	3.957	20.2	5.58	2.630	2.854	12.906	0.345	0.0190945144254	0.0014	0.00219649	0.0021	0.0001	0.0007	0	0	0.0023	0.0023	0.0057	0.0018176	281	154602	rs147255071	0.0016	0.0016	0.0014	0.0018	0.0156	0.0016	0.0016	0.0130	0.0121	0.0003	0.0008	0.0020	5.046e-05	9.38e-05	0.0156	0.0014	0.0026	0.0051	0.0016	0.0016	0.0017	0.0014	0.0081	0.0014	0.0013	0.0061	0.0054	0.0002	0	0.0018	0.0014	0	0	0.0102	0.0022	0.0028	0.0081	0.01	0.61437	D	0.041	0.58089	D	0.896	0.49324	P	0.721	0.54900	P	0.046460	0.23438	N	0.439072	0.998027	0.22390	N	2.415	0.69758	M	-0.05	0.63403	T	-1.54	0.71157	N	0.177	0.19055	-0.5071	0.68392	T	0.356	0.71897	T	10	0.009949297	0.00223	T	0.019095	0.41369	T	0.345	0.66676	.	.	0.645408611234	0.64247	0.5151473116475712	0.51437	0.0827273509579	0.09334	0.630742430687	0.57251	T	0.016557	0.13660	T	-0.525967	0.00406	T	-0.527201	0.19567	T	0.0417767271637241	0.04013	T	0.864914	0.56300	D	0.12813233	0.29965	0.093509234	0.22089	0.12813233	0.29965	0.093509234	0.22089	-5.079	0.37685	T	.	.	0.086	0.16800	B	.;.	.;.	3.387903	0.46888	22.4	0.99904591426530143	0.97576	0.81189	0.40646	D	AEFBI	0.173637	0.30072	N	0.584390645449768	0.72200	5.768433	0.571800366175148	0.72925	5.888	0.999998576847307	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.58	5.58	0.84361	2.913000	0.48487	6.004000	0.52535	0.599000	0.40250	0.990000	0.36992	1.000000	0.68203	0.973000	0.55318	0.0:0.9259:0.0:0.0741	12.906	0.57547	726	0.54788	Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	901.98	39	chr4	36229459	.	C	T	901.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.950e-01;DP=775;ExcessHet=0.0000;FS=3.675;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.32;ReadPosRankSum=-4.500e-01;SOR=0.333	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,101,1274	20	0	1	0
chr4	36281955	36281955	C	T	exonic	DTHD1	.	nonsynonymous SNV	DTHD1:NM_001170700:exon1:c.C197T:p.S66L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.644e-07	1.368e-06	1.499e-06	0	9.689e-07	0	0	.	.	0	0	0	0	0	0	9.689e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998829	0.21877	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13528085	0.25743	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.457954	0.13172	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.33412	B	.	.	2.229312	0.28453	17.80	0.75885232088475441	0.11249	0.08174	0.14135	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999969990169048	0.48965	0.053691	0.00478	0	0.060609	0.00678	0	0.063197	0.01477	0	0.057018	0.00518	0	0.722056	0.43501	5.54	3.71	0.41733	0.710000	0.25421	1.363000	0.25896	0.599000	0.40250	0.015000	0.19116	0.011000	0.20116	0.003000	0.05239	0.0:0.7823:0.1414:0.0763	9.871	0.40343	686	0.59327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	430.98	37	chr4	36281955	.	C	T	430.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.502;DP=735;ExcessHet=0.0000;FS=1.137;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.58;ReadPosRankSum=2.17;SOR=0.519	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1125	20	0	1	0
chr4	36339145	36339146	AA	-	exonic	DTHD1	.	frameshift deletion	DTHD1:NM_001136536:exon8:c.1504_1505del:p.R503Sfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.433e-06	1.368e-06	0	2.905e-06	2.534e-05	2.4e-07	9e-08	4.21e-06	1.57e-06	0	0	0	0	0	0	0	0	2.534e-05	6.575e-06	6.568e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	6306.05	36	chr4	36339144	.	CAA	C	6306.05	.	AC=2;AF=0.048;AN=42;DP=1100;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=27.43;SOR=0.956	GT:AD:DP:GQ:PL	0/0:109,0:109:99:0,120,1800	20	1	0	0
chr4	37443522	37443522	A	G	exonic	NWD2	.	nonsynonymous SNV	NWD2:NM_001144990:exon7:c.A1534G:p.I512V,	.	.	425	1079	16	2	0	20	0.00918274	.	.	709342	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.004	B	0.007	B	.	.	1.000	D	0	N	-1.09	T	-0.860	T	0.184	T	0.22	2.172	13.22	4.9	2.323	3.387	11.671	0.184	.	0.0031	0.00479233	0.0082	0.0018	0.0048	0	0.0037	0.0046	0.0164	0.0158	0.0020375	315	154602	rs142523381	0.0052	0.0050	0.0048	0.0056	0.0176	0.0051	0.0051	0.0169	0.0166	0.0004	0.0040	0.0021	0	0.0027	0.0063	0.0048	0.0054	0.0176	0.0031	0.0031	0.0031	0.0032	0.0156	0.0029	0.0028	0.0127	0.0117	0.0009	0	0.0020	0.0014	0.0002	0.0021	0	0.0044	0.0043	0.0156	0.223	0.18757	T	0.388	0.15602	T	0.004	0.12183	B	0.007	0.12992	B	.	.	.	.	0.999858	0.49910	D	1.24	0.30952	L	-1.09	0.77206	T	-0.67	0.19297	N	0.282	0.31925	-0.8602	0.51249	T	0.184	0.53300	T	9	0.005728036	0.00128	T	.	.	.	0.184	0.45763	.	.	0.148003135375	0.14442	0.3334378922076684	0.33256	.	.	0.442216396332	0.30881	T	0.03827	0.24778	T	-0.414398	0.01859	T	-0.355057	0.38625	T	0.0159306943670325	0.00377	T	0.792821	0.43457	T	0.07329088	0.16366	0.08466118	0.19493	0.07329088	0.16365	0.08466118	0.19492	-4.192	0.26635	T	.	.	0.092	0.13690	B	.	.	2.201175	0.28072	17.68	0.98659946700863277	0.44317	0.85918	0.45108	D	AEBI	0.191013	0.31823	N	-0.35675028507783	0.27025	1.479511	-0.0900062375073974	0.35801	2.075695	0.900204061452854	0.26070	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.06	4.9	0.63643	3.391000	0.52271	7.110000	0.57563	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.9316:0.0:0.0684:0.0	11.671	0.50665	934	0.15400	NACHT nucleoside triphosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1829.98	41	chr4	37443522	.	A	G	1829.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.821;DP=838;ExcessHet=0.0000;FS=3.076;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=-5.530e-01;SOR=0.746	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1309	20	0	1	0
chr4	38051978	38051978	C	T	exonic	TBC1D1	.	nonsynonymous SNV	TBC1D1:NM_001253912:exon12:c.C1990T:p.P664S,	.	.	411	1094	16	1	0	18	0.00815956	.	.	777448	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.43	T	0.635	P	0.122	B	.	.	1.000	D	.	.	3.62	T	-0.708	T	0.004	T	0.184	2.003	12.66	5.65	2.664	2.969	12.993	0.087	.	.	0.00838658	0.0077	0.0052	0.0068	0.0205	0	0.0007	0.0097	0.0140	0.0013648	211	154602	rs117452860	0.0023	0.0022	0.0020	0.0026	0.0278	0.0022	0.0022	0.0264	0.0258	0.0029	0.0099	0.0021	0.0278	0	0.0082	0.0002	0.0036	0.0153	0.0027	0.0027	0.0028	0.0026	0.0151	0.0025	0.0024	0.0123	0.0113	0.0038	0	0.0051	0.0017	0.0147	0	0	0.0003	0.0024	0.0151	0.299	0.14546	T	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	0.999335	0.81001	D	.	.	.	3.62	0.04399	T	-0.32	0.12283	N	0.774	0.77132	-0.7079	0.60056	T	0.004	0.01192	T	8	0.0065568388	0.00149	T	.	.	.	0.087	0.25287	.	.	0.269111216191	0.26524	.	.	.	.	.	.	.	.	.	.	-0.5521	0.00283	T	-0.554154	0.16929	T	0.0100619775686471	0.00135	T	0.835616	0.50622	T	.	.	.	.	.	.	.	.	-3.455	0.15807	T	.	.	0.155	0.34339	B	.	.	2.873209	0.37996	20.6	0.98515519287653175	0.42398	0.86718	0.46059	D	AEFBIJ	0.386185	0.46665	N	0.19164663519664	0.50798	3.266462	0.312551521042106	0.56277	3.79076	0.999999949810211	0.74766	0.744818	0.98587	0	0.546412	0.12157	0	0.732433	0.93434	0	0.447301	0.06993	0	.	.	5.65	5.65	0.86881	5.203000	0.65009	5.994000	0.52377	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.9261:0.0:0.0739	12.993	0.58033	772	0.48957	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	800.98	35	chr4	38051978	.	C	T	800.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=820;ExcessHet=0.0000;FS=0.769;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.43;ReadPosRankSum=-2.569e+00;SOR=0.608	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1142	20	0	1	0
chr4	38773195	38773195	C	T	exonic	TLR10	.	nonsynonymous SNV	TLR10:NM_001017388:exon2:c.G2396A:p.R799Q	.	.	429	1047	46	0	0	46	0.0214953	.	.	2822487	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.35	T	0.007	B	0.002	B	0.264	N	1.000	N	0.345	N	2.68	T	-0.986	T	0.014	T	0.094	1.138	9.637	-1.62	-0.307	-0.532	5.535	0.014	0.00187015817586	0.0045	0.00339457	0.0048	0.0005	0.0047	0	0.0009	0.0060	0.0088	0.0080	0.0047735	738	154602	rs4129008	0.0035	0.0036	0.0033	0.0038	0.0134	0.0034	0.0034	0.0109	0.0100	0.0005	0.0040	0.0166	0	0.0007	0.0134	0.0031	0.0055	0.0084	0.0037	0.0037	0.0038	0.0036	0.0108	0.0034	0.0033	0.0084	0.0076	0.0004	0	0.0040	0.0173	0.0002	0.0002	0.0170	0.0050	0.0099	0.0108	0.287	0.15149	T	0.771	0.04461	T	0.007	0.14184	B	0.002	0.06944	B	0.263916	0.03727	N	1.716230	1	0.08975	N	1.245	0.31408	L	2.68	0.12371	T	-0.27	0.11366	N	0.066	0.07398	-0.9860	0.33590	T	0.014	0.05561	T	10	0.0044157505	0.00090	T	0.00187	0.03272	T	0.014	0.01968	.	.	0.18995819373	0.18626	0.1451211992874426	0.14435	0.0599924990014	0.06676	0.165198862553	0.00018	T	0.018991	0.15211	T	-0.679565	0.00048	T	-0.745059	0.03682	T	0.00263097535739466	0.00027	T	0.683132	0.29138	T	0.025159713	0.01423	0.028046945	0.01006	0.025159713	0.01423	0.028046945	0.01006	-3.703	0.19363	T	.	.	0.071	0.03964	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.189900	0.03142	0.507	0.66708251931569984	0.08138	0.00969	0.03707	N	AEFBCI	0.042094	0.06485	N	-1.28919650298075	0.03804	0.1706082	-1.30982611816678	0.04303	0.2026425	0.173269479786867	0.17767	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.99	-1.62	0.07926	-0.865000	0.04358	-6.751000	0.01315	-0.182000	0.10109	0.001000	0.13787	0.000000	0.08366	0.013000	0.09966	0.1917:0.2908:0.0:0.5175	5.535	0.16296	735	0.53711	.;.;.;.;.;.	.	.	.	.	rs4129008	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1009.98	37	chr4	38773195	.	C	T	1009.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.197;DP=932;ExcessHet=0.0000;FS=0.762;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.41;ReadPosRankSum=0.926;SOR=0.786	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,120,1344	20	0	1	0
chr4	38827207	38827207	G	A	exonic	TLR6	.	nonsynonymous SNV	TLR6:NM_006068:exon2:c.C2267T:p.T756M,	.	.	424	1017	74	7	0	88	0.0414703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.153	B	0.104	B	0.497	N	1.000	N	0.205	N	-1.71	D	-0.791	T	0.226	T	0.035	0.020	4.117	2.33	0.302	0.322	5.462	0.179	.	0.0077	0.00958466	0.0115	0.0018	0.0068	0.0002	0.0027	0.0112	0.0231	0.0308	0.0109313	1690	154602	rs5743820	0.0094	0.0094	0.0082	0.0105	0.0548	0.0092	0.0092	0.0498	0.0479	0.0028	0.0080	0.0265	0.0001	0.0021	0.0548	0.0077	0.0119	0.0326	0.0078	0.0078	0.0077	0.0078	0.0267	0.0074	0.0072	0.0230	0.0216	0.0030	0.0011	0.0086	0.0286	0	0.0031	0.0816	0.0089	0.0166	0.0267	0.033	0.44358	D	0.015	0.70582	D	0.153	0.28093	B	0.104	0.31021	B	0.497084	0.11992	N	0.750305	1	0.08975	N	0	0.06538	N	-1.71	0.83157	D	-1.13	0.29114	N	0.03	0.07398	-0.7909	0.55677	T	0.226	0.59121	T	10	0.0028704405	0.00046	T	.	.	.	0.179	0.44899	.	.	.	.	0.1746402654636805	0.17383	0.193594903952	0.21691	0.278119981289	0.07232	T	0.058549	0.30873	T	-0.534823	0.00360	T	-0.518016	0.20495	T	0.00559374194311265	0.00061	T	0.29847	0.15517	T	0.03610745	0.04378	0.04778994	0.06959	0.03610745	0.04378	0.04778994	0.06958	-5.872	0.46737	T	.	.	0.086	0.10931	B	.;.;.	.;.;.	1.386434	0.17983	13.48	0.97477809307597563	0.34172	0.21857	0.21548	N	AEFBCI	0.204685	0.33110	N	-1.35961097335748	0.03026	0.1345516	-1.34051892723374	0.03918	0.1837954	0.181631973287945	0.17880	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.94	2.33	0.27981	0.841000	0.27267	1.795000	0.28833	-2.553000	0.00247	0.000000	0.06391	0.007000	0.19602	0.002000	0.04165	0.2233:0.0:0.6384:0.1383	5.462	0.15915	674	0.60593	Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain;Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	4307.68	99	chr4	38827207	.	G	A	4307.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.701;DP=920;ExcessHet=0.3300;FS=0.935;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=15.33;ReadPosRankSum=-2.360e-01;SOR=0.765	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1620	18	0	3	0
chr4	38827466	38827466	-	TA	exonic	TLR6	.	frameshift insertion	TLR6:NM_006068:exon2:c.2007_2008insTA:p.Q670Yfs*63,	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	.	5.767e-05	0.0005	0.0002	0	0	0	0	0	4.53e-05	7	154602	rs760930964	3.078e-05	3.078e-05	2.995e-05	3.163e-05	0.0012	2.347e-05	2.095e-05	0.0009	0.0008	0.0012	2.236e-05	0	0	0	0.0002	0	4.967e-05	1.159e-05	0.0003	0.0003	0.0002	0.0003	0.0009	0.0002	0.0002	0.0007	0.0006	0.0009	0	6.546e-05	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5949.05	92	chr4	38827466	.	G	GTA	5949.05	.	AC=2;AF=0.048;AN=42;DP=1015;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=27.12;SOR=0.707	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1620	20	1	0	0
chr4	38827598	38827598	G	A	exonic	TLR6	.	nonsynonymous SNV	TLR6:NM_006068:exon2:c.C1876T:p.R626C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.874	P	0.301	B	0.705	N	1.000	N	2.36	M	2.95	T	-1.049	T	0.041	T	0.244	1.707	11.67	3.45	1.033	3.260	11.861	0.191	0.0102259169423	.	.	4.942e-05	0	0	0.0001	0	4.495e-05	0	0.0001	3.88e-05	6	154602	rs778712154	3.762e-05	3.831e-05	3.539e-05	3.988e-05	5.797e-05	2.959e-05	2.655e-05	3.171e-05	2.836e-05	2.987e-05	0	0	5.038e-05	0	0	4.137e-05	1.656e-05	5.797e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.001	0.78490	D	0.004	0.74150	D	0.874	0.48047	P	0.301	0.41090	B	0.705435	0.10058	N	0.861964	0.830654	0.28764	N	2.655	0.77738	M	2.95	0.09635	T	-4.29	0.76414	D	0.219	0.30687	-1.0489	0.14705	T	0.041	0.17785	T	10	0.34923333	0.51821	T	0.010226	0.26522	T	0.191	0.46948	0.579	0.70476	0.420570264827	0.41677	0.4596369051935611	0.45881	0.575392335939	0.53539	0.213695436716	0.00978	T	0.384649	0.74623	T	-0.320225	0.06878	T	-0.495103	0.22857	T	0.564520359039307	0.35026	D	0.967103	0.88031	D	0.14232925	0.32760	0.13779625	0.32927	0.14232925	0.32759	0.13779625	0.32926	-8.123	0.61906	D	.	.	0.105	0.19235	B	.;.	.;.	2.601557	0.33767	19.44	0.99736132439018288	0.83119	0.90924	0.52520	D	AEFGBCI	0.528627	0.55007	D	-0.142515175724436	0.35555	2.043656	-0.239334838206252	0.30141	1.694513	0.999980806377863	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.59522	0.37078	0	.	.	4.29	3.45	0.38602	3.531000	0.53302	4.095000	0.41830	-0.800000	0.03169	0.921000	0.31989	0.840000	0.27292	0.002000	0.04165	0.0871:0.0:0.9129:0.0	11.861	0.51745	670	0.60992	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3134.98	92	chr4	38827598	.	G	A	3134.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.025e+00;DP=1803;ExcessHet=0.0000;FS=2.332;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.90;MQRankSum=1.08;QD=14.58;ReadPosRankSum=-1.218e+00;SOR=0.568	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1620	20	0	1	0
chr4	38828710	38828710	G	A	exonic	TLR6	.	nonsynonymous SNV	TLR6:NM_006068:exon2:c.C764T:p.T255I,	.	.	421	1097	4	0	0	4	0.00181984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.213	B	0.094	B	0.000	D	1.000	D	2.75	M	1.28	T	-0.797	T	0.130	T	0.777	1.113	9.540	5.56	2.638	2.647	12.885	0.188	0.0117312037557	0.0018	0.000798722	0.0015	0.0004	0.0012	0	0.0002	0.0022	0.0011	0.0004	0.0015265	236	154602	rs5743811	0.0013	0.0013	0.0013	0.0013	0.0036	0.0013	0.0012	0.0024	0.0021	0.0004	0.0016	0.0120	5.04e-05	3.745e-05	0.0036	0.0012	0.0019	0.0003	0.0010	0.0010	0.0011	0.0009	0.0018	0.0009	0.0008	0.0012	0.0011	0.0002	0.0088	0.0018	0.0089	0	0	0	0.0011	0.0009	0.0006	0.116	0.28395	T	0.131	0.34596	T	0.213	0.30041	B	0.094	0.30180	B	0.000046	0.53742	D	0.077324	0.83249	0.34939	D	3.23	0.89537	M	1.28	0.35960	T	-3.4	0.67014	D	0.283	0.35832	-0.7974	0.55298	T	0.130	0.43989	T	10	0.010984778	0.00242	T	0.011731	0.29644	T	0.188	0.46444	.	.	0.616389152107	0.61328	0.6445321019751712	0.64388	0.199283120582	0.22328	0.407116144896	0.26058	T	0.255357	0.62613	T	-0.246674	0.14510	T	-0.133582	0.60669	T	0.0711740972690485	0.08814	T	0.814918	0.46941	T	0.15862079	0.35676	0.15597034	0.36538	0.15862079	0.35676	0.15597034	0.36537	-5.938	0.49891	T	.	.	0.192	0.43311	B	.;.;.	.;.;.	2.436781	0.31353	18.72	0.98598469641978814	0.43467	0.92276	0.55340	D	AEFBI	0.332296	0.43175	N	0.109882624268639	0.46922	2.925355	0.177980449806451	0.48642	3.07746	0.998228128738114	0.36603	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.56	5.56	0.83678	2.001000	0.40444	7.565000	0.60571	0.618000	0.50648	0.340000	0.25675	1.000000	0.68203	0.351000	0.25682	0.0746:0.0:0.9254:0.0	12.885	0.57431	648	0.63242	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1858.98	128	chr4	38828710	.	G	A	1858.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.590e-01;DP=1736;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.19;ReadPosRankSum=-7.200e-02;SOR=0.720	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1620	20	0	1	0
chr4	39103370	39103370	G	A	exonic	KLHL5	.	nonsynonymous SNV	KLHL5:NM_199039:exon6:c.G1201A:p.G401S	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	1.43	L	-1.4	T	-0.649	T	0.318	T	0.925	5.558	35	5.66	2.832	9.869	20.125	0.283	0.0671321524532	.	0.000399361	0.0002	9.617e-05	0.0006	0	0	0.0001	0	0.0002	0.0001552	24	154602	rs34646863	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	9.833e-05	0.0003	0.0002	2.987e-05	0.0004	0	7.559e-05	0	0.0005	0.0001	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0004	7.091e-05	5.748e-05	0.0001	8.879e-05	0	0	0.0001	0	0	0	0	0.0002	0	0.0004	0.015	0.58626	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.2	0.30300	L	-1.4	0.80474	T	-5.79	0.88839	D	0.831	0.83167	-0.6495	0.62736	T	0.318	0.68709	T	10	0.47912934	0.60325	T	0.067132	0.70078	D	0.687	0.88585	.	.	0.873080159417	0.87184	0.7736518274314215	0.77315	1.09819229049	0.77641	0.885159254074	0.94644	D	0.583226	0.86385	D	0.158753	0.70085	D	0.324411	0.89276	D	0.346248745918274	0.26871	T	0.979882	0.93166	D	0.74068207	0.80331	0.79862654	0.88183	0.74068207	0.80333	0.79862654	0.88184	-10.477	0.79317	D	.	.	0.880	0.84837	P	.;.;.;.;.	.;.;.;.;.	5.698040	0.93098	33	0.99905181012605559	0.97576	0.95468	0.64841	D	AEFDGBHCI	0.929480	0.91530	D	0.548153182228521	0.69972	5.433318	0.650989047861216	0.78684	6.92598	0.999999999999975	0.74766	0.743674	0.98306	0	0.630245	0.54622	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.66	5.66	0.87293	10.003000	0.99689	11.750000	0.95386	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	20.125	0.97977	511	0.75131	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2173.98	37	chr4	39103370	.	G	A	2173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.778;DP=906;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=0.386;SOR=0.732	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1241	20	0	1	0
chr4	39115178	39115178	A	T	exonic	KLHL5	.	nonsynonymous SNV	KLHL5:NM_199039:exon9:c.A1738T:p.M580L	.	.	431	1089	2	0	0	2	0.000917431	.	.	2672435	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.003	B	0.016	B	0.000	D	0.529	N	0.305	N	-1.07	T	-0.782	T	0.220	T	0.384	2.695	14.97	-0.504	-0.055	0.138	11.421	0.049	0.0140531668623	0.0009	0.000199681	0.0013	0.0003	0.0009	0	0.0014	0.0019	0	0.0005	0.0012354	191	154602	rs148371989	0.0014	0.0014	0.0015	0.0014	0.0018	0.0014	0.0013	0.0015	0.0015	0.0003	0.0018	0.0015	0	0.0010	0.0010	0.0016	0.0014	0.0002	0.0014	0.0014	0.0014	0.0014	0.0041	0.0013	0.0012	0.0032	0.0030	0.0004	0	0.0041	0.0003	0	0.0009	0	0.0018	0.0019	0	0.012	0.54683	D	0.125	0.35330	T	0.001	0.11197	B	0.016	0.17743	B	0.000071	0.52346	D	0.254899	0.529093	0.31506	N	0.49	0.13296	N	-1.07	0.76948	T	-0.86	0.23372	N	0.285	0.39356	-0.7817	0.56206	T	0.220	0.58345	T	10	0.024781168	0.00694	T	0.014053	0.33902	T	0.264	0.57741	0.338	0.32816	0.680885744014	0.67817	0.09243696715219937	0.09175	0.321520750167	0.34353	0.493598252535	0.37938	T	0.202333	0.56048	T	-0.339865	0.05397	T	-0.257243	0.49099	T	0.0211525635329985	0.00817	T	0.877212	0.60417	D	0.12230421	0.28743	0.16655299	0.38472	0.12230421	0.28743	0.16655299	0.38471	-3.894	0.22212	T	.	.	0.100	0.17953	B	.;.;.;.;.	.;.;.;.;.	2.179954	0.27787	17.58	0.90757521411027398	0.20007	0.31527	0.24360	N	AEFDBI	0.200631	0.32735	N	-0.689612233884166	0.16316	0.8302106	-0.58485393658787	0.19887	1.069054	0.997569780044731	0.35763	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	6.06	-0.504	0.11398	0.289000	0.18713	2.947000	0.35694	0.756000	0.94297	0.018000	0.19461	0.963000	0.29397	1.000000	0.97212	0.541:0.0:0.459:0.0	11.421	0.49223	494	0.76445	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	774.98	61	chr4	39115178	.	A	T	774.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.11;DP=1062;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=-3.760e-01;SOR=0.830	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1800	20	0	1	0
chr4	39268001	39268001	A	C	exonic	WDR19	.	nonsynonymous SNV	WDR19:NM_001317924:exon29:c.A2788C:p.K930Q	Nephronophthisis 13, Autosomal recessive;Senior-Loken syndrome 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	698516	Senior-Loken_syndrome_8|Asphyxiating_thoracic_dystrophy_5	MONDO:MONDO:0014579,MedGen:C4225376,OMIM:616307,Orphanet:3156|MONDO:MONDO:0013717,MedGen:C3280598,OMIM:614376,Orphanet:474	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.08	T	0.38	B	0.087	B	0.000	D	1.000	D	2.67	M	-0.19	T	-0.536	T	0.264	T	0.735	3.702	18.80	5.21	1.960	9.022	15.083	0.367	0.0308754207767	0.0011	0.000599042	0.0005	0.0046	0.0007	0	0	3.892e-05	0	0	0.0002458	38	154602	rs147302274	8.692e-05	8.824e-05	0.0001	5.836e-05	0.0024	7.415e-05	6.961e-05	0.0020	0.0018	0.0024	0.0003	0	0	0	0.0007	8.138e-06	0.0003	3.587e-05	0.0010	0.0011	0.0011	0.0010	0.0036	0.0009	0.0009	0.0031	0.0029	0.0036	0	0.0003	0	0	0	0	8.821e-05	0	0	0.009	0.57480	D	0.017	0.60337	D	0.38	0.34363	B	0.087	0.29615	B	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.46	0.71463	M	-0.19	0.65931	T	-2.5	0.54382	D	0.657	0.66700	-0.5359	0.67319	T	0.264	0.63534	T	10	0.017853022	0.00384	T	0.030875	0.53091	D	0.367	0.68670	.	.	0.774502914159	0.77242	0.5853813225607856	0.58467	0.244669740564	0.26975	0.671730279922	0.63084	T	0.520733	0.83234	D	-0.152807	0.27874	T	0.00467629	0.70639	D	0.0882366437244235	0.11006	T	0.912209	0.68770	D	0.4635574	0.64892	0.34530306	0.60215	0.4635574	0.64893	0.34530306	0.60215	-8.923	0.67200	D	.	.	0.212	0.44069	B	.	.	3.900595	0.56818	23.8	0.99262541874016796	0.57255	0.98947	0.89017	D	AEFDBI	0.871505	0.79294	D	0.376489887698926	0.60149	4.200915	0.464221042923314	0.65636	4.848751	0.999999990529229	0.74766	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.21	5.21	0.72005	9.010000	0.93142	11.219000	0.89698	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	15.083	0.71797	388	0.83355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2989.08	35	chr4	39268001	.	A	C	2989.08	.	AC=2;AF=0.048;AN=42;DP=802;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.59;SOR=0.753	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1255	20	1	0	0
chr4	39447053	39447055	TCT	-	exonic	KLB	.	nonframeshift deletion	KLB:NM_175737:exon4:c.2327_2329del:p.F777del,	.	.	412	1108	2	0	0	2	0.000901713	.	.	589202	not_provided|KLB-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0048	0.00139776	0.0023	0.0009	0.0013	0	0.0002	0.0037	0	0.0002	0.0005763	15	26028	rs549659598	0.0059	0.0059	0.0062	0.0055	0.0073	0.0058	0.0057	0.0071	0.0071	0.0007	0.0015	0.0029	0	0.0004	0.0002	0.0073	0.0048	0.0002	0.0031	0.0031	0.0037	0.0025	0.0056	0.0029	0.0028	0.0052	0.0050	0.0013	0	0.0016	0.0029	0	9.413e-05	0	0.0056	0.0028	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4407.05	38	chr4	39447052	.	CTCT	C	4407.05	.	AC=2;AF=0.048;AN=42;DP=912;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.60;SOR=0.713	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	20	1	0	0
chr4	39448439	39448439	G	A	exonic	KLB	.	nonsynonymous SNV	KLB:NM_175737:exon5:c.G2888A:p.S963N,	.	.	429	1092	1	0	0	1	0.000457666	.	.	2395954	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.61	T	0.011	B	0.037	B	0.047	N	0.988	N	1.215	L	1.45	T	-1.010	T	0.047	T	0.068	1.209	9.909	2.05	0.348	1.829	5.124	0.014	0.0035801091504	.	0.000199681	5.779e-05	0	0	0	0	0	0	0.0004	5.17e-05	8	154602	rs201588988	3.42e-05	3.42e-05	2.042e-05	4.813e-05	0.0004	2.631e-05	2.375e-05	0.0003	0.0003	0	0	0	0	0	0.0002	1.169e-05	1.656e-05	0.0004	1.313e-05	1.312e-05	0	2.685e-05	0.0004	2.18e-06	8.2e-07	7.287e-05	3.028e-05	0	0	0	0	0	0	0	0	0	0.0004	0.399	0.10517	T	0.201	0.27503	T	0.011	0.15914	B	0.037	0.23121	B	0.046760	0.23409	N	0.542364	0.988029	0.24455	N	1.565	0.39561	L	1.45	0.32482	T	-0.61	0.18042	N	0.136	0.13341	-1.0095	0.27074	T	0.047	0.20037	T	10	0.02849403	0.00981	T	0.00358	0.08185	T	0.014	0.01968	0.387	0.40788	0.305410167561	0.30157	0.3618697765261315	0.36100	0.00690958607625	0.00608	0.31577116251	0.12780	T	0.017379	0.14191	T	-0.493926	0.00618	T	-0.6253	0.10773	T	0.0759809911251068	0.09466	T	0.475952	0.14261	T	0.27434805	0.50501	0.1158091	0.27956	0.27434805	0.50501	0.1158091	0.27955	-5.548	0.42315	T	.	.	0.094	0.14293	B	.	.	1.743707	0.22184	15.52	0.92039662772659703	0.21381	0.79884	0.39675	D	AEFDBHCI	0.210004	0.33594	N	-0.647117020359188	0.17544	0.9036885	-0.560121176051145	0.20537	1.106941	0.999999589464487	0.74766	0.421363	0.06395	0	0.514364	0.08380	0	0.536957	0.11973	0	0.645665	0.59343	0	.	.	5.78	2.05	0.25860	1.165000	0.31432	3.290000	0.37298	-0.165000	0.11486	0.393000	0.26112	0.997000	0.33255	0.481000	0.28588	0.1308:0.1246:0.6294:0.1152	5.124	0.14206	543	0.72751	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1745.98	34	chr4	39448439	.	G	A	1745.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.227;DP=824;ExcessHet=0.0000;FS=0.647;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.33;ReadPosRankSum=0.325;SOR=0.788	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,110,1272	20	0	1	0
chr4	39922750	39922750	-	AG	splicing	PDS5A	NM_001100399:exon6:c.528-2->CT;NM_001100400:exon6:c.528-2->CT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	76.94	31	chr4	39922750	.	T	TAG	76.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.322e+00;DP=725;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=3.50;ReadPosRankSum=2.00;SOR=0.586	GT:AD:DP:GQ:PL	0/0:26,0:26:54:0,54,810	20	0	1	0
chr4	40120090	40120090	A	G	exonic	N4BP2	.	nonsynonymous SNV	N4BP2:NM_018177:exon9:c.A1979G:p.K660R	.	.	439	1082	1	0	0	1	0.000461894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.005	B	0.004	B	0.458	N	1.000	N	1.06	L	2.17	T	-0.965	T	0.022	T	0.152	1.145	9.665	-2.96	-0.343	0.357	1.033	0.026	0.00421583919928	0.0002	0.000199681	0.0009	0	0	0.0005	0.0042	0.0008	0.0011	0.0012	0.0007244	112	154602	rs201855506	0.0005	0.0005	0.0005	0.0005	0.0011	0.0004	0.0004	0.0009	0.0008	3.006e-05	0	0	0.0002	0.0044	0.0002	0.0003	0.0006	0.0011	0.0005	0.0005	0.0004	0.0007	0.0019	0.0004	0.0004	0.0010	0.0008	2.404e-05	0	6.534e-05	0	0.0019	0.0037	0	0.0004	0	0.0004	0.55	0.06585	T	0.566	0.08930	T	0.003	0.11197	B	0.002	0.06944	B	0.458411	0.12421	N	0.743446	1	0.08975	N	1.575	0.39704	L	2.17	0.19020	T	0.12	0.05604	N	0.059	0.03069	-0.9651	0.38191	T	0.022	0.09559	T	10	0.0036215186	0.00066	T	0.004216	0.10153	T	0.026	0.05648	.	.	0.255777322467	0.25185	0.18782101830575348	0.18700	0.0646895154567	0.07223	0.229418337345	0.01925	T	4.25E-4	0.00140	T	-0.560522	0.00252	T	-0.623479	0.10915	T	0.0131910982242928	0.00234	T	0.568143	0.20156	T	0.030810237	0.02810	0.030518966	0.01517	0.030810237	0.02810	0.030518966	0.01517	-4.414	0.29746	T	.	.	0.078	0.06849	B	.	.	1.844236	0.23430	16.01	0.96051178970474482	0.28564	0.34480	0.25077	N	AEFDGBI	0.070152	0.13915	N	-0.882513882120914	0.11258	0.5423517	-0.824471733964072	0.13903	0.72371	0.998419164721216	0.36924	0.653281	0.48532	0	0.633656	0.55848	0	0.675528	0.61593	0	0.567892	0.33627	0	.	.	5.93	-2.96	0.05212	0.184000	0.16748	3.140000	0.36479	0.756000	0.94297	0.981000	0.35396	1.000000	0.68203	0.939000	0.47918	0.3555:0.1198:0.303:0.2217	1.033	0.01446	428	0.80967	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1749.98	59	chr4	40120090	.	A	G	1749.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.354;DP=1088;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.80;ReadPosRankSum=-3.540e-01;SOR=0.687	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,99,1485	20	0	1	0
chr4	40432704	40432704	C	T	exonic	RBM47	.	nonsynonymous SNV	RBM47:NM_019027:exon4:c.G1282A:p.A428T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.068	B	0.01	B	0.000	D	0.998	N	1.5	L	2.06	T	-1.035	T	0.035	T	0.297	0.876	8.552	0.468	0.488	1.300	.	0.084	0.0338051837333	.	.	0.0001	0	8.772e-05	0	0	3.097e-05	0	0.0006	7.76e-05	12	154602	rs780492136	6.043e-05	6.018e-05	4.286e-05	7.819e-05	0.0007	4.958e-05	4.632e-05	0.0003	0.0003	0	2.325e-05	0	2.564e-05	0	0.0007	3.644e-05	5.045e-05	0.0005	2.653e-05	2.649e-05	3.892e-05	1.357e-05	0.0004	8.2e-06	5.18e-06	6.879e-05	2.876e-05	0	0	0	0	0.0004	0	0	1.487e-05	0	0.0002	0.114	0.59928	T	0.439	0.13365	T	0.019	0.23728	B	0.002	0.14941	B	0.000002	0.62929	D	0.101238	0.999268	0.22137	N	0.345	0.11182	N	1.95	0.22474	T	0.4	0.08187	N	0.305	0.43029	-1.0346	0.18983	T	0.035	0.15247	T	9	0.06024596	0.07370	T	0.033805	0.55241	D	0.084	0.24469	0.279	0.23323	0.0934897674506	0.08844	0.7611333511787579	0.76061	0.290742149187	0.31481	0.493936300278	0.37985	T	0.07052	0.33980	T	-0.409371	0.02007	T	-0.509654	0.21350	T	0.0459646010103354	0.04777	T	0.80472	0.45238	T	0.13334163	0.31017	0.12158392	0.29335	0.13334163	0.31017	0.12158392	0.29334	-8.314	0.63190	D	.	.	0.115	0.25364	B	.;.;.;.	.;.;.;.	2.917392	0.38715	20.8	0.93638592852220792	0.23516	0.89551	0.50087	D	AEFDBI	0.229964	0.35341	N	-0.801491282774851	0.13272	0.652648	-0.893717353325239	0.12242	0.6285868	0.485778628991534	0.20822	0.787689	0.99735	0	0.71359	0.82159	0	0.0	0.00061	3	0.562822	0.20929	0	.	.	0.468	0.468	0.15943	1.323000	0.33307	1.739000	0.28386	0.531000	0.24825	0.993000	0.37899	0.026000	0.21063	0.002000	0.04165	.	.	.	835	0.38313	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1817.98	33	chr4	40432704	.	C	T	1817.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.688;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.15;ReadPosRankSum=-2.570e-01;SOR=0.676	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1251	20	0	1	0
chr4	40432716	40432716	C	T	exonic	RBM47	.	nonsynonymous SNV	RBM47:NM_019027:exon4:c.G1270A:p.A424T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.999	D	0.99	D	0.107	N	1.000	D	0	N	2.05	T	-1.065	T	0.074	T	0.498	4.464	23.8	5.43	2.553	3.956	18.847	0.213	0.0403908792523	.	.	2.526e-05	0.0001	0	0.0001	0	1.536e-05	0	0	1.94e-05	3	154602	rs748134090	1.166e-05	1.232e-05	9.556e-06	1.379e-05	1.351e-05	7.1e-06	5.81e-06	8.11e-06	6.43e-06	0	0	0	0	0	0	1.351e-05	1.662e-05	1.163e-05	3.286e-05	3.282e-05	2.571e-05	4.034e-05	0.0006	1.261e-05	7.98e-06	0.0002	8.404e-05	4.816e-05	0	0	0	0.0006	0	0	0	0	0	0.123	0.48186	T	0.31	0.25135	T	0.999	0.77913	D	0.985	0.78936	D	0.106626	0.19606	N	0.571278	0.99999	0.58761	D	1.32	0.33002	L	2.02	0.23082	T	-0.12	0.08809	N	0.482	0.57263	-1.0645	0.10666	T	0.074	0.29928	T	10	0.34846124	0.51760	T	0.040391	0.59348	D	0.213	0.50496	0.259	0.20159	0.082315109003	0.07666	0.7154601592543018	0.71489	0.844674069954	0.68227	0.532006144524	0.43317	T	0.079094	0.36047	T	-0.224262	0.17414	T	-0.377146	0.36056	T	0.29628776645464	0.24850	T	0.860614	0.55382	D	0.08241198	0.18984	0.09916821	0.23668	0.08241198	0.18984	0.09916821	0.23668	-8.328	0.63284	D	.	.	0.128	0.27702	B	.;.;.;.	.;.;.;.	2.792500	0.36715	20.3	0.9954274494061357	0.70586	0.98499	0.83426	D	AEFDBI	0.661377	0.63162	D	0.185922827236151	0.50524	3.241498	0.231537752755156	0.51606	3.341662	0.99999999997597	0.74766	0.787689	0.99735	0	0.71359	0.82159	0	0.0	0.00061	3	0.562822	0.20929	0	.	.	5.43	5.43	0.79006	4.013000	0.56850	5.381000	0.48456	0.531000	0.24825	0.998000	0.41325	0.989000	0.31174	0.026000	0.12556	0.0:1.0:0.0:0.0	18.847	0.92179	835	0.38313	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1014.98	33	chr4	40432716	.	C	T	1014.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.050e+00;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.31;ReadPosRankSum=-1.398e+00;SOR=0.743	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1251	20	0	1	0
chr4	40827150	40827150	G	C	exonic	APBB2	.	nonsynonymous SNV	APBB2:NM_001166051:exon3:c.C67G:p.L23V	.	.	434	1085	3	0	0	3	0.00138058	.	.	3289580	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.34	T	0.999	D	0.998	D	0.000	D	1.000	D	-1.265	N	2.57	T	-0.959	T	0.069	T	0.261	0.646	7.470	5.89	2.797	6.297	20.256	0.213	0.0257987342774	.	.	0.0002	0	0.0005	0	0	0.0002	0	0.0002	0.0001552	24	154602	rs111676334	0.0001	0.0001	9.801e-05	0.0002	0.0007	0.0001	0.0001	0.0005	0.0005	0	0.0003	0.0025	0	0	0.0007	1.889e-05	0.0003	0.0007	0.0001	0.0001	8.992e-05	0.0001	0.0003	7.09e-05	5.747e-05	8.876e-05	5.385e-05	0	0	0.0003	0.0020	0	0	0	5.879e-05	0.0005	0.0002	0.862	0.04685	T	0.783	0.41239	T	0.999	0.77913	D	0.996	0.88582	D	0.000029	0.55875	D	0.123991	0.999969	0.52935	D	1.01	0.25309	L	2.52	0.42888	T	0.29	0.10308	N	0.562	0.60579	-0.9591	0.39349	T	0.069	0.28147	T	10	0.030318528	0.01158	T	0.025799	0.48750	D	0.308	0.62947	.	.	0.565757058302	0.56239	0.3790187906591514	0.37816	1.05166733854	0.76173	0.403711229563	0.25586	T	0.092781	0.39074	T	-0.381117	0.03065	T	-0.448965	0.27811	T	0.120380663994677	0.14467	T	0.890111	0.62362	D	0.048354752	0.08413	0.062025122	0.12069	0.048354752	0.08413	0.062025122	0.12068	-4.487	0.44435	T	.	.	0.072	0.04640	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.461325	0.48248	22.6	0.85760951317924805	0.16095	0.98914	0.88555	D	AEFDBI	0.826625	0.74608	D	-0.152740674938611	0.35118	2.01312	-0.0463122777255258	0.37651	2.207343	0.999999488107589	0.74766	0.719381	0.83141	0	0.653731	0.59785	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.89	5.89	0.94758	6.113000	0.71239	9.903000	0.82365	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.0:0.0:1.0:0.0	20.256	0.98421	670	0.60992	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	614.98	33	chr4	40827150	.	G	C	614.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.220e-01;DP=758;ExcessHet=0.0000;FS=1.007;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.42;ReadPosRankSum=1.27;SOR=0.950	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr4	41982378	41982378	G	A	exonic	DCAF4L1	.	nonsynonymous SNV	DCAF4L1:NM_001029955:exon1:c.G586A:p.A196T,	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.898	P	0.137	B	0.001	D	0.634	D	1.995	M	-0.47	T	-0.755	T	0.173	T	0.115	1.900	12.31	0.688	0.635	1.082	3.039	0.204	0.00982608711377	0.0017	0.000399361	0.0011	0.0005	0.0003	0	0	0.0016	0.0022	0.0005	0.0011837	183	154602	rs139209766	0.0017	0.0017	0.0017	0.0017	0.0021	0.0017	0.0016	0.0021	0.0020	0.0004	0.0005	0	0	3.744e-05	0.0021	0.0021	0.0009	0.0004	0.0010	0.0010	0.0011	0.0009	0.0019	0.0009	0.0008	0.0016	0.0015	0.0003	0	0.0002	0.0003	0	9.423e-05	0	0.0019	0.0014	0.0008	0.096	0.31088	T	0.289	0.21078	T	0.898	0.49442	P	0.137	0.33328	B	0.000784	0.41772	D	0.277345	0.633685	0.32813	D	1.905	0.50856	L	-0.47	0.70133	T	-1.46	0.35792	N	0.2	0.22098	-0.7554	0.57651	T	0.173	0.51579	T	10	0.011575431	0.00252	T	0.009826	0.25631	T	0.204	0.49076	.	.	0.134007934775	0.12933	0.2227637100081241	0.22191	0.855463859066	0.68732	0.322410464287	0.13786	T	0.049877	0.28434	T	-0.472268	0.00823	T	-0.464387	0.26123	T	0.0265638361312182	0.01483	T	0.90061	0.65471	D	0.05825504	0.11696	0.07129384	0.15251	0.05825504	0.11696	0.07129384	0.15251	-4.398	0.29530	T	.	.	0.110	0.21087	B	.	.	1.372553	0.17831	13.39	0.99227718504538742	0.56120	0.23523	0.22103	N	AEFDI	0.045072	0.07329	N	-0.396045955405243	0.25610	1.391463	-0.56531784014552	0.20400	1.098904	0.743928072783988	0.23255	0.516011	0.20929	0	0.573888	0.26702	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	0.688	0.688	0.17190	1.173000	0.31529	3.504000	0.38797	0.373000	0.20310	1.000000	0.71638	1.000000	0.68203	0.161000	0.20682	0.3493:0.0:0.6507:0.0	3.039	0.05762	598	0.68232	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	899.98	39	chr4	41982378	.	G	A	899.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=869;ExcessHet=0.0000;FS=2.114;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.06;ReadPosRankSum=-9.880e-01;SOR=1.061	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	20	0	1	0
chr4	42039011	42039011	T	C	exonic	SLC30A9	.	nonsynonymous SNV	SLC30A9:NM_006345:exon8:c.T695C:p.F232S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.645	P	0.25	B	0.000	D	1.000	D	1.04	L	1.84	T	-1.098	T	0.043	T	0.786	2.544	14.47	5.37	2.257	5.378	11.696	0.115	0.0125198680169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.174	0.30045	T	0.645	0.40526	P	0.25	0.39011	B	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	2.2	0.62015	M	1.84	0.24656	T	-1.09	0.28290	N	0.568	0.59138	-1.0981	0.04328	T	0.043	0.18410	T	10	0.4951425	0.61222	T	0.01252	0.31165	T	0.115	0.32236	0.439	0.49321	0.437527004654	0.43370	0.7668586174437748	0.76634	0.78260429612	0.65368	0.686023592949	0.65134	T	0.052087	0.29062	T	0.0662583	0.60391	T	-0.142601	0.59892	T	0.878836452960968	0.52878	D	0.835616	0.50622	T	0.1819227	0.39387	0.1431733	0.34035	0.1819227	0.39386	0.1431733	0.34034	-9.755	0.72432	D	.	.	0.516	0.65319	A	.	.	4.172668	0.62756	24.5	0.99184322878632047	0.54789	0.94376	0.60968	D	AEFBI	0.579767	0.58044	D	0.1077341592006	0.46823	2.916879	0.236566473119768	0.51888	3.367644	0.205327170916829	0.18173	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.633917	0.49826	0	.	.	5.37	5.37	0.76949	4.870000	0.62730	7.785000	0.68758	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.869000	0.41347	0.0:0.0:0.0:1.0	11.696	0.50808	513	0.74941	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	292.98	34	chr4	42039011	.	T	C	292.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.70;DP=720;ExcessHet=0.0000;FS=5.347;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.62;ReadPosRankSum=0.325;SOR=1.700	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,973	20	0	1	0
chr4	42143789	42143789	T	C	exonic	BEND4	.	nonsynonymous SNV	BEND4:NM_001159547:exon3:c.A693G:p.I231M	.	.	430	1082	10	0	0	10	0.00459982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.259	B	0.064	B	0.079	N	0.806	D	0	N	.	.	-1.116	T	0.044	T	0.274	1.470	10.86	-3.9	-0.200	0.654	3.259	0.046	0.00465492384018	0.0012	0.00119808	0.0017	0.0012	0.0014	0	0.0005	0.0019	0.0012	0.0028	0.0016235	251	154602	rs146288414	0.0020	0.0020	0.0019	0.0020	0.0030	0.0019	0.0019	0.0022	0.0021	0.0014	0.0018	0.0003	0	0.0005	0.0030	0.0021	0.0022	0.0025	0.0017	0.0017	0.0018	0.0015	0.0025	0.0015	0.0014	0.0016	0.0015	0.0018	0	0.0018	0.0003	0	9.411e-05	0.0068	0.0019	0.0024	0.0025	0.042	0.41637	D	0.077	0.45961	T	0.053	0.22573	B	0.029	0.21540	B	0.078888	0.21017	N	0.487974	0.805516	0.34569	D	0	0.06538	N	.	.	.	-0.62	0.22078	N	0.334	0.43995	-1.1156	0.02630	T	0.044	0.18742	T	9	0.004888147	0.00104	T	0.004655	0.11534	T	0.046	0.12618	.	.	0.043077524339	0.03247	0.07599990172989807	0.07535	0.2788373971	0.30363	0.271804660559	0.06378	T	0.018804	0.15093	T	-0.440935	0.01277	T	-0.4092	0.32318	T	0.0233211625925542	0.01062	T	0.79872	0.44372	T	0.043015942	0.06629	0.051964298	0.08468	0.043015942	0.06629	0.051964298	0.08468	-3.004	0.10224	T	.	.	0.066	0.03925	B	.;.;.	.;.;.	0.657439	0.10261	6.994	0.98443850149149592	0.41542	0.67824	0.33574	D	AEFDBI	0.152034	0.27663	N	-0.920931246388658	0.10354	0.4943356	-0.868503493122846	0.12844	0.6630264	0.109037892330663	0.16597	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.52	-3.9	0.03904	0.761000	0.26154	0.039000	0.13841	-0.133000	0.13014	1.000000	0.71638	0.843000	0.27318	0.008000	0.08271	0.2021:0.0631:0.2852:0.4496	3.259	0.06436	624	0.65661	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2742.98	33	chr4	42143789	.	T	C	2742.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.250e-01;DP=925;ExcessHet=0.0000;FS=1.065;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=-1.106e+00;SOR=0.642	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1117	20	0	1	0
chr4	44690732	44690732	G	A	exonic	GUF1	.	nonsynonymous SNV	GUF1:NM_001345869:exon11:c.G379A:p.E127K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.483	P	0.084	B	0.000	D	1.000	D	1.2	L	-0.44	T	-0.765	T	0.198	T	0.573	3.193	16.69	5.51	2.746	5.230	15.891	0.106	0.027228511779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.21634	T	0.151	0.32355	T	0.483	0.36807	P	0.084	0.29270	B	0.000000	0.84330	D	0.044648	0.999997	0.58761	D	1.425	0.35738	L	-0.44	0.69777	T	-1.02	0.26843	N	0.678	0.68516	-0.7650	0.57132	T	0.198	0.55343	T	10	0.44480088	0.58328	T	0.027229	0.50063	D	0.106	0.30130	0.438	0.49157	0.842945499789	0.84144	0.7515191998654405	0.75098	0.132474847726	0.14931	0.59063744545	0.51583	T	0.084903	0.37382	T	0.0267813	0.55294	T	-0.199307	0.54712	T	0.888736486434937	0.53936	D	0.928407	0.73561	D	0.27672786	0.50733	0.27259743	0.53172	0.27672786	0.50733	0.27259743	0.53171	-5.787	0.44461	T	0.25379783692869345	0.34329	0.178	0.38924	B	.	.	3.892468	0.56649	23.8	0.99677755678728241	0.79043	0.98934	0.88834	D	AEFGBI	0.692350	0.65204	D	0.241992807260551	0.53243	3.494207	0.388038753990774	0.60825	4.274781	0.999999999721605	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.51	5.51	0.81769	5.334000	0.65697	11.725000	0.94886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1353:0.8647:0.0	15.891	0.79076	612	0.66786	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	774.98	33	chr4	44690732	.	G	A	774.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.640e-01;DP=760;ExcessHet=0.0000;FS=1.990;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.92;ReadPosRankSum=-6.300e-02;SOR=0.479	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr4	46041205	46041205	A	G	exonic	GABRG1	.	nonsynonymous SNV	GABRG1:NM_173536:exon9:c.T1181C:p.I394T,	.	.	416	1098	8	0	0	8	0.00362976	.	.	2301097	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.44	T	0.129	B	0.071	B	0.013	N	1.000	N	0.55	N	-1.75	D	-0.843	T	0.299	T	0.15	-1.267	0.046	4.28	0.899	1.672	7.902	0.134	0.0391511694492	0.0005	0.000199681	0.0006	9.8e-05	0.0004	0	0	0.0010	0.0011	0	0.0001035	16	154602	rs149632298	0.0005	0.0005	0.0004	0.0005	0.0017	0.0004	0.0004	0.0009	0.0007	2.992e-05	0.0005	0.0087	0	0	0.0017	0.0003	0.0010	5.798e-05	0.0005	0.0005	0.0006	0.0004	0.0007	0.0004	0.0004	0.0004	0.0003	0.0001	0	0.0007	0.0095	0	0	0.0034	0.0004	0.0014	0	0.474	0.08384	T	0.488	0.11621	T	0.129	0.27048	B	0.071	0.27960	B	0.012528	0.29142	N	0.399125	1	0.08975	N	1.245	0.31408	L	-1.75	0.83495	D	-0.1	0.08495	N	0.075	0.04913	-0.8426	0.52473	T	0.299	0.67036	T	10	0.0060000718	0.00135	T	0.039151	0.58640	D	0.134	0.36365	.	.	0.701312467069	0.69872	0.3620877995437546	0.36122	0.163159783007	0.18410	0.443791747093	0.31094	T	0.012746	0.11148	T	-0.336539	0.05632	T	-0.36261	0.37750	T	0.0368895156013577	0.03137	T	0.773323	0.40460	T	0.06268956	0.13121	0.07037647	0.14946	0.06268956	0.13120	0.07037647	0.14945	-4.126	0.25672	T	.	.	0.149	0.32851	B	.	.	1.434764	0.18534	13.79	0.28744069994211219	0.01491	0.06429	0.12434	N	AEI	0.097066	0.19584	N	-0.776771555542693	0.13917	0.6891687	-0.739253547129441	0.15986	0.8435446	1.78531025203102E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.46	4.28	0.50183	1.606000	0.36437	7.743000	0.68032	0.691000	0.84096	0.002000	0.15269	1.000000	0.68203	0.037000	0.13953	0.8407:0.0:0.1593:0.0	7.902	0.28902	693	0.58582	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1270.11	35	chr4	46041205	.	A	G	1270.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.170;DP=802;ExcessHet=0.1072;FS=1.388;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.01;ReadPosRankSum=-1.173e+00;SOR=0.576	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1257	19	0	2	0
chr4	47569072	47569072	G	A	exonic	ATP10D	.	nonsynonymous SNV	ATP10D:NM_020453:exon16:c.G3089A:p.R1030Q,	.	.	.	.	.	.	.	.	.	.	.	3301062	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.906	P	0.000	D	1.000	D	3.26	M	-1.27	T	0.425	D	0.657	D	0.957	4.924	28.5	6.04	2.873	4.830	12.748	0.750	0.0507218193156	0.0002	.	0.0003	9.796e-05	0.0007	0	0	0.0005	0	0	0.0002975	46	154602	rs138541186	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	2.987e-05	0.0003	0.0058	0	0	0.0002	6.655e-05	0.0006	1.159e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	8.72e-05	0.0001	8.292e-05	2.413e-05	0	0.0003	0.0043	0	0	0	1.47e-05	0.0005	0	0.039	0.42487	D	0.033	0.53072	D	0.999	0.77913	D	0.906	0.64351	P	0.000011	0.62929	D	0.066766	0.990542	0.41182	D	2.64	0.77224	M	-1.27	0.79277	T	-3.5	0.68178	D	0.231	0.25989	0.425	0.89464	D	0.657	0.88073	D	10	0.02076003	0.00484	T	0.050722	0.64362	D	0.750	0.91413	.	.	0.931863963041	0.93116	0.7989112234564344	0.79844	0.300015251806	0.32365	0.365988492966	0.20255	T	0.416919	0.76972	T	0.136972	0.68034	D	0.27513	0.86857	D	0.150250017642975	0.17124	T	0.959004	0.84537	D	0.27346942	0.50414	0.18042809	0.40841	0.27346942	0.50414	0.18042809	0.40840	-10.913	0.79179	D	.	.	0.082	0.08899	B	.	.	4.341024	0.66595	25.0	0.99958184922363646	0.99986	0.97658	0.76213	D	AEFDBI	0.644748	0.62089	D	0.859448875205673	0.89638	10.055	0.814092329962937	0.90757	10.55399	0.999999990512614	0.74766	0.706548	0.73137	0	0.615513	0.52658	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	6.04	6.04	0.98025	4.930000	0.63163	4.573000	0.43888	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.0817:0.0:0.9183:0.0	12.748	0.56666	473	0.77910	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2555.98	36	chr4	47569072	.	G	A	2555.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=925;ExcessHet=0.0000;FS=0.526;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=-1.493e+00;SOR=0.629	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1298	20	0	1	0
chr4	47643044	47643044	G	A	exonic	CORIN	.	nonsynonymous SNV	CORIN:NM_001278586:exon14:c.C2059T:p.H687Y,	Preeclampsia/eclampsia 5	.	1	1508	13	0	0	13	0.00429185	.	.	1687522	not_provided|CORIN-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	1	T	0.001	B	0.003	B	.	.	1.000	N	.	.	-3.1	D	-0.753	T	0.291	T	0.037	0.437	6.376	2.73	0.500	2.864	8.694	0.213	.	.	0.00439297	0.0264	0.0043	0.0254	0	0.0790	0.0414	0.0338	0.0022	0.0093013	1438	154602	rs55932196	0.0099	0.0100	0.0101	0.0097	0.0109	0.0098	0.0097	0.0107	0.0106	0.0012	0.0051	0.0083	0	0.0224	0.0051	0.0109	0.0078	0.0027	0.0089	0.0089	0.0086	0.0093	0.0128	0.0085	0.0084	0.0121	0.0118	0.0023	0.0154	0.0066	0.0107	0	0.0207	0.0136	0.0128	0.0071	0.0008	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-3.1	0.92667	D	-0.48	0.15379	N	0.097	0.07811	-0.7534	0.57757	T	0.291	0.66230	T	8	0.004630983	0.00097	T	.	.	.	0.213	0.50496	.	.	0.63021950896	0.62719	.	.	.	.	.	.	.	0.23038	0.59643	T	-0.43095	0.01463	T	-0.38013	0.35707	T	0.0780477859281067	0.09736	T	0.267673	0.04439	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.09336	B	.	.	1.123995	0.15098	11.59	0.46540044281047255	0.03735	0.69705	0.34294	D	AEFGBCI	0.181985	0.30930	N	-0.847287756427463	0.12116	0.5886915	-0.786794312970389	0.14819	0.7762992	0.999973057912888	0.50053	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.35	2.73	0.31266	1.699000	0.37423	1.226000	0.25010	-0.106000	0.15538	0.948000	0.32982	0.011000	0.20116	0.006000	0.07323	0.2404:0.0:0.7596:0.0	8.694	0.33443	417	0.81662	.	.	.	.	.	rs55932196	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2156.98	34	chr4	47643044	.	G	A	2156.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.820e-01;DP=872;ExcessHet=0.0000;FS=2.671;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=-9.620e-01;SOR=0.644	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1158	20	0	1	0
chr4	48067638	48067638	C	G	exonic	TXK	.	stoploss	TXK:NM_003328:exon15:c.G1583C:p.X528S,	.	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	-0.205	3.005	3.21	0.383	0.494	12.452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.082	0.05799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.29294	0.09343	T	-0.658565	0.08363	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	0.584058	0.09523	6.302	0.66881994369223285	0.08189	0.82640	0.41840	D	AEFDBI	.	.	.	0.245509567436155	0.53418	3.51065	0.0102926123987032	0.40192	2.394748	0.341507473387616	0.19588	0.162113	0.03585	0	0.097471	0.02872	0	0.063197	0.01477	0	0.24566	0.04862	0	0.268177	0.33586	4.95	3.21	0.35933	0.375000	0.20248	0.305000	0.17021	-0.190000	0.09434	0.937000	0.32526	0.988000	0.31051	0.147000	0.20199	0.0:0.8491:0.0:0.1509	12.452	0.55022	442	0.79946	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1079.98	33	chr4	48067638	.	C	G	1079.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.024e+00;DP=801;ExcessHet=0.0000;FS=3.528;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.82;ReadPosRankSum=-1.621e+00;SOR=0.428	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1377	20	0	1	0
chr4	48382889	48382889	A	G	exonic	SLAIN2	.	nonsynonymous SNV	SLAIN2:NM_020846:exon5:c.A1184G:p.H395R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.996	D	0.000	D	1.000	D	1.845	L	.	.	-0.240	T	0.399	T	0.866	3.859	19.60	5.75	2.192	8.476	16.062	0.364	0.00874731198867	.	.	9.391e-06	0	0	0	0	0	0	6.854e-05	6.5e-06	1	154602	rs764840594	1.37e-06	1.368e-06	0	2.754e-06	1.162e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9e-07	0	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.40832	D	0.259	0.23097	T	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.045	0.56016	M	.	.	.	-2.5	0.59710	D	0.862	0.85872	-0.2398	0.76631	T	0.399	0.75116	T	9	0.68695265	0.71620	D	0.008747	0.23099	T	0.364	0.68407	0.235	0.16457	0.413450081142	0.40960	0.40028690022359475	0.39943	0.876304150873	0.69580	0.741021037102	0.73123	T	0.20737	0.56699	T	0.30814	0.83604	D	0.305475	0.88449	D	0.52733333324472	0.33635	D	0.959804	0.84855	D	0.46804908	0.65170	0.36138508	0.61564	0.46804908	0.65171	0.36138508	0.61563	-2.146	0.03787	T	.	.	0.284	0.55103	B	.;.	.;.	3.781050	0.54365	23.5	0.99642324545540328	0.76756	0.99368	0.95115	D	AEFGBI	0.903628	0.85295	D	0.784053674943071	0.85098	8.475948	0.783944652109089	0.88656	9.664472	0.999999999974511	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.75	5.75	0.90390	8.470000	0.90251	9.308000	0.79934	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	16.062	0.80648	280	0.88949	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1509.98	35	chr4	48382889	.	A	G	1509.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.326;DP=800;ExcessHet=0.0000;FS=1.985;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.25;ReadPosRankSum=0.196;SOR=0.961	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1224	20	0	1	0
chr4	48490325	48490325	T	C	exonic	ZAR1	.	nonsynonymous SNV	ZAR1:NM_175619:exon1:c.T34C:p.Y12H,	.	.	366	1155	1	0	0	1	0.000432713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.049	B	0.019	B	0.002	N	1.000	N	1.79	L	.	.	-1.012	T	0.082	T	0.138	2.866	15.55	-0.149	-0.184	3.240	4.306	0.103	0.415445901089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.469e-06	2.736e-06	0	2.973e-06	1.871e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.871e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.022	0.57587	D	0.049	0.22227	B	0.019	0.18783	B	0.001748	0.38106	N	0.175427	1	0.08975	N	2.175	0.60977	M	.	.	.	-2.39	0.52612	N	0.171	0.18239	-1.0121	0.26259	T	0.082	0.32353	T	9	0.16826475	0.31368	T	0.415446	0.93685	D	0.103	0.29403	0.627	0.76254	0.0482279557977	0.04254	0.5457809778112004	0.54504	0.972122514001	0.73403	0.741523265839	0.73197	T	0.232589	0.59919	T	-0.193308	0.21775	T	-0.51545	0.20757	T	0.19837760925293	0.20326	T	0.485951	0.14839	T	0.08181205	0.18818	0.11414228	0.27552	0.08181205	0.18818	0.11414228	0.27551	-4.948	0.36270	T	.	.	0.241	0.47470	B	.	.	2.442409	0.31438	18.74	0.9869867940577417	0.44866	0.13029	0.17622	N	AEFDGBCI	0.115957	0.22778	N	-0.764641020074571	0.14238	0.707653	-0.839284012981558	0.13546	0.7032645	0.999809925675199	0.43304	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.79	-0.149	0.12764	1.470000	0.34963	0.884000	0.22419	0.485000	0.22221	0.013000	0.18845	0.001000	0.17328	0.029000	0.12982	0.0:0.2039:0.1723:0.6237	4.306	0.10388	187	0.92701	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	556.98	53	chr4	48490325	.	T	C	556.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.440e-01;DP=794;ExcessHet=0.0000;FS=1.099;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.51;ReadPosRankSum=1.65;SOR=0.446	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	20	0	1	0
chr4	48494114	48494114	C	T	exonic	ZAR1	.	nonsynonymous SNV	ZAR1:NM_175619:exon4:c.C1145T:p.T382M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.999	D	0.841	P	0.000	D	0.954	D	1.245	L	1.91	T	-1.040	T	0.092	T	0.232	1.258	10.10	3.97	0.764	3.782	11.922	0.142	0.0206475132881	.	0.000199681	2.485e-05	9.679e-05	8.711e-05	0	0	1.505e-05	0	0	2.59e-05	4	154602	rs149279464	6.159e-06	6.156e-06	4.085e-06	8.255e-06	4.476e-05	2.9e-06	2.1e-06	7.42e-06	2.78e-06	2.988e-05	4.476e-05	0	0	0	0	4.498e-06	1.656e-05	0	1.313e-05	1.312e-05	1.285e-05	1.343e-05	6.537e-05	2.18e-06	8.2e-07	.	.	2.407e-05	0	6.537e-05	0	0	0	0	0	0	0	0.032	0.44694	D	0.041	0.50514	D	0.999	0.77913	D	0.841	0.60228	P	0.000010	0.62929	D	0.065510	0.953586	0.37837	D	0.695	0.17993	N	1.91	0.23283	T	-3.93	0.73267	D	0.176	0.18920	-1.0403	0.17223	T	0.092	0.35146	T	10	0.22831538	0.39733	T	0.020648	0.43286	T	0.142	0.37995	.	.	0.15556083564	0.15200	0.23048999020686656	0.22963	0.957206127568	0.72872	0.401137888432	0.25226	T	0.292654	0.66537	T	-0.338968	0.05460	T	-0.543152	0.17989	T	0.487845897674561	0.32185	T	0.589341	0.21633	T	0.09322739	0.21891	0.20888872	0.45210	0.09322739	0.21891	0.20888872	0.45209	-12.631	0.87787	D	.	.	0.189	0.40714	B	.	.	3.367260	0.46514	22.3	0.9693469805169721	0.31672	0.87792	0.47454	D	AEFDBCI	0.366319	0.45418	N	0.0982133758493643	0.46378	2.879174	-0.00244710865352052	0.39606	2.350827	0.999999924145421	0.74766	0.549168	0.22868	0	0.547309	0.14657	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	5.69	3.97	0.45241	3.848000	0.55612	2.752000	0.34542	-0.171000	0.11205	0.998000	0.41325	0.994000	0.32194	0.045000	0.14751	0.0:0.8598:0.0:0.1402	11.922	0.52078	177	0.93145	Zinc-binding domain|Zinc-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1373.98	34	chr4	48494114	.	C	T	1373.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=798;ExcessHet=0.0000;FS=5.106;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.34;ReadPosRankSum=-2.211e+00;SOR=1.220	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr4	48551524	48551524	T	A	exonic	FRYL	.	nonsynonymous SNV	FRYL:NM_015030:exon37:c.A4490T:p.N1497I,	.	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.09	B	0.139	B	0.016	N	1.000	D	0.345	N	1.86	T	-1.098	T	0.083	T	0.212	1.196	9.859	0.472	0.083	-0.005	5.769	0.026	0.0288995810983	0.0019	0.000599042	0.0014	0.0008	8.646e-05	0	0	0.0021	0.0011	0.0010	0.0015006	232	154602	rs190941081	0.0029	0.0030	0.0031	0.0028	0.0036	0.0029	0.0028	0.0035	0.0034	0.0004	0.0004	3.83e-05	0	0.0001	0.0003	0.0036	0.0030	0.0013	0.0017	0.0017	0.0018	0.0015	0.0032	0.0015	0.0014	0.0028	0.0027	0.0005	0	0.0007	0	0	9.422e-05	0	0.0032	0.0014	0.0008	0.013	0.54683	D	0.029	0.54541	D	0.041	0.21357	B	0.051	0.25434	B	0.016449	0.27975	N	0.432595	1	0.81001	D	1.245	0.31408	L	1.86	0.43672	T	-2.14	0.56301	N	0.335	0.43223	-1.0976	0.04394	T	0.083	0.32642	T	10	0.006642282	0.00150	T	0.029	0.51501	D	0.026	0.05648	.	.	0.082315109003	0.07666	0.36760052366286494	0.36674	0.317509848706	0.33995	0.293152570724	0.09383	T	0.041994	0.30351	T	-0.539444	0.00338	T	-0.548171	0.17501	T	0.00733656859589523	0.00084	T	0.743726	0.36333	T	0.13688141	0.31716	0.08163126	0.18567	0.13688141	0.31715	0.08163126	0.18567	-3.168	0.12094	T	.	.	0.074	0.08705	B	.;.;.	.;.;.	0.848980	0.12210	8.756	0.96707101073293611	0.30795	0.94897	0.62709	D	AEFDBIJ	0.303260	0.41128	N	-0.510454599053876	0.21742	1.156019	-0.548048858230182	0.20858	1.125689	0.997614102880942	0.35820	0.744818	0.98587	0	0.708844	0.79440	0	0.658983	0.55881	0	0.76194	0.99817	0	.	.	5.62	0.472	0.15969	-0.258000	0.08754	-0.704000	0.07781	0.609000	0.47794	0.504000	0.26986	0.000000	0.08366	0.275000	0.23893	0.0:0.3035:0.1364:0.5601	5.769	0.17509	130	0.94779	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1704.98	34	chr4	48551524	.	T	A	1704.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.100e-01;DP=813;ExcessHet=0.0000;FS=2.336;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.86;ReadPosRankSum=0.092;SOR=0.528	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr4	48557067	48557067	C	A	exonic	FRYL	.	nonsynonymous SNV	FRYL:NM_015030:exon35:c.G4177T:p.A1393S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.992	D	0.989	D	0.000	D	1.000	D	1.79	L	1.61	T	-0.540	T	0.364	T	0.801	5.364	34	6.03	2.854	7.818	20.567	0.261	0.039772941585	0.0002	.	0.0001	0	0	0	0	0.0002	0	0	0.0001035	16	154602	rs200588184	8.776e-05	8.893e-05	8.596e-05	8.958e-05	0.0003	7.505e-05	7.051e-05	9.631e-05	8.977e-05	0	0	0	0	0	0.0003	0.0001	1.661e-05	0	9.376e-05	9.206e-05	7.827e-05	0.0001	0.0002	5.63e-05	4.444e-05	0.0001	8.934e-05	0	0	6.725e-05	0	0	0	0	0.0002	0	0	0.032	0.44694	D	0.014	0.62352	D	0.228	0.64738	B	0.25	0.78396	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.995	0.54099	M	1.61	0.53731	T	-1.16	0.34596	N	0.819	0.81758	-0.5403	0.67152	T	0.364	0.72498	T	10	0.647606	0.69417	D	0.039773	0.59002	D	0.261	0.57352	.	.	0.357212565759	0.35331	0.4959369664498766	0.49514	0.847282011839	0.68377	0.86942255497	0.92486	D	0.051941	0.29019	T	-0.0340555	0.46826	T	-0.0173951	0.69200	D	0.492427438497543	0.32353	T	0.965953	0.89563	D	0.22835131	0.45553	0.20958145	0.45309	0.22835131	0.45553	0.20958145	0.45308	-5.081	0.37706	T	.	.	0.295	0.52565	B	.;.;.	.;.;.	4.004249	0.59023	24.0	0.99791053127295493	0.87661	0.99189	0.92544	D	AEFBI	0.869887	0.79061	D	0.537111695609569	0.69301	5.33751	0.630756087700776	0.77185	6.630883	1.0	0.98316	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	7.905000	0.86479	7.626000	0.62520	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:1.0:0.0:0.0	20.567	0.99354	131	0.94738	Cell morphogenesis central region;Cell morphogenesis central region;Cell morphogenesis central region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	812.98	34	chr4	48557067	.	C	A	812.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.210e-01;DP=774;ExcessHet=0.0000;FS=1.866;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.42;ReadPosRankSum=-1.200e-01;SOR=0.644	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,100,1137	20	0	1	0
chr4	48581520	48581520	G	A	exonic	FRYL	.	nonsynonymous SNV	FRYL:NM_015030:exon21:c.C2072T:p.A691V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.939	D	0.000	U	1.000	D	2.595	M	3.64	T	-0.430	T	0.274	T	0.962	5.119	32	5.87	2.941	9.420	20.583	0.523	.	.	0.00379393	0.0011	0	0	0.0153	0	1.505e-05	0	0.0004	0.0011449	177	154602	rs148840944	0.0004	0.0004	0.0004	0.0004	0.0104	0.0003	0.0003	0.0096	0.0093	0	4.472e-05	0	0.0104	0	0	8.094e-06	0.0011	0.0003	0.0006	0.0006	0.0005	0.0007	0.0147	0.0005	0.0004	0.0120	0.0110	4.816e-05	0	0.0004	0	0.0147	0	0	2.941e-05	0	0.0006	0.0	0.91255	D	0.003	0.76473	D	0.999	0.77913	D	0.932	0.67449	D	0.000000	0.84330	U	0.000000	1	0.81001	D	2.14	0.59869	M	3.64	0.50721	T	-3.64	0.72120	D	0.966	0.98065	-0.4303	0.71057	T	0.274	0.64525	T	10	0.01181224	0.00257	T	.	.	.	0.523	0.79765	.	.	0.536878667166	0.53338	0.68550832454902	0.68489	0.871174705938	0.69399	0.6046615839	0.53563	T	0.371877	0.73617	T	-0.0445434	0.45271	T	0.17752	0.81853	D	0.0773460631130135	0.09643	T	0.995367	0.98413	D	0.7267098	0.79538	0.6359496	0.78745	0.7267098	0.79539	0.6359496	0.78746	-8.998	0.67685	D	.	.	0.597	0.78953	P	.;.;.;.	.;.;.;.	5.569991	0.92213	32	0.99912327824777447	0.98167	0.99380	0.95276	D	AEFBI	0.857231	0.77456	D	0.91980801143144	0.92697	11.57438	0.886506896457297	0.94957	13.18641	0.999999999990455	0.74766	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.87	5.87	0.94266	9.602000	0.97623	11.844000	0.97886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.854000	0.40426	0.0:0.0:1.0:0.0	20.583	0.99411	139	0.94486	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1544.98	44	chr4	48581520	.	G	A	1544.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.839e+00;DP=839;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.79;ReadPosRankSum=0.914;SOR=0.655	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1297	20	0	1	0
chr4	51994584	51994584	G	A	exonic	LRRC66	.	nonsynonymous SNV	LRRC66:NM_001024611:exon5:c.C2438T:p.P813L,	.	.	421	1087	13	1	0	15	0.00685244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.197	B	0.052	B	0.969	N	1.000	N	0.255	N	1.58	T	-0.989	T	0.035	T	0.097	1.120	9.566	1.91	0.256	0.243	4.407	0.107	0.00747068174486	8.3e-05	0.00119808	0.0007	0	8.657e-05	0	0	0.0003	0	0.004	0.0006209	96	154602	rs201852965	0.0004	0.0004	0.0003	0.0005	0.0043	0.0003	0.0003	0.0039	0.0038	2.987e-05	0.0001	0.0016	2.52e-05	0	0.0023	7.014e-05	0.0005	0.0043	0.0003	0.0003	0.0002	0.0003	0.0046	0.0002	0.0002	0.0031	0.0026	0	0	0.0001	0.0023	0	0	0.0034	0.0001	0.0009	0.0046	0.542	0.06757	T	0.575	0.08654	T	0.197	0.29559	B	0.052	0.25551	B	0.968726	0.08174	N	0.983285	1	0.08975	N	1.65	0.42232	L	1.58	0.29085	T	-2.07	0.47344	N	0.053	0.02462	-0.9894	0.32753	T	0.035	0.14900	T	10	0.0047828853	0.00101	T	0.007471	0.19819	T	0.107	0.30369	.	.	0.154104182512	0.14974	0.03317373347038634	0.03265	0.0439505018323	0.04735	0.272894084454	0.06521	T	0.007813	0.07192	T	-0.640599	0.00083	T	-0.69296	0.06219	T	0.0188849794227172	0.00598	T	0.570643	0.20320	T	0.017936166	0.00316	0.037262455	0.03343	0.017936166	0.00316	0.037262455	0.03342	-3.237	0.12938	T	.	.	0.078	0.06990	B	.	.	0.655049	0.10233	6.972	0.53703547576644117	0.04992	0.03606	0.08836	N	AEFDBI	0.044990	0.07306	N	-0.9850956713548	0.08921	0.4201849	-0.996025679668643	0.09874	0.493841	0.00363253125332423	0.10212	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.67	1.91	0.24841	0.495000	0.22191	0.190000	0.15733	-0.105000	0.15698	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.2106:0.187:0.6024:0.0	4.407	0.10843	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2368.98	150	chr4	51994584	.	G	A	2368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.45;DP=858;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.79;ReadPosRankSum=1.84;SOR=0.688	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1227	20	0	1	0
chr4	52017250	52017250	G	A	exonic	LRRC66	.	nonsynonymous SNV	LRRC66:NM_001024611:exon2:c.C364T:p.H122Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.031	B	0.052	B	0.695	N	1.000	N	1.015	L	0.36	T	-1.013	T	0.096	T	0.061	-0.754	0.805	1.81	0.019	0.024	4.957	0.081	0.0208903117602	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868418571	2.736e-06	2.736e-06	1.361e-06	4.125e-06	0.0005	6.4e-07	4.3e-07	0.0001	7.541e-05	0	2.236e-05	0	0	0	0.0005	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.312	0.13925	T	0.325	0.18846	T	0.031	0.20130	B	0.052	0.25551	B	0.694682	0.06167	N	1.175850	1	0.08975	N	2.825	0.82220	M	0.36	0.57880	T	-1.69	0.40274	N	0.176	0.18920	-1.0129	0.26007	T	0.096	0.36159	T	10	0.07040846	0.10239	T	0.02089	0.43570	T	0.081	0.23632	0.384	0.40298	0.0806252709748	0.07271	0.2604314277811286	0.25956	0.0275862687904	0.02819	0.232048809528	0.02123	T	0.010797	0.09711	T	-0.30676	0.08037	T	-0.59555	0.13189	T	0.0883232787418227	0.11016	T	0.439156	0.12095	T	0.03570449	0.04255	0.049820412	0.07692	0.03570449	0.04254	0.049820412	0.07692	-4.445	0.30162	T	.	.	0.080	0.07602	B	.	.	0.272827	0.06504	2.983	0.59036084375043485	0.06130	0.07258	0.13282	N	AEFBI	0.078255	0.15784	N	-1.02451844222113	0.08097	0.3784695	-1.01171264354645	0.09527	0.4744973	0.140787562507384	0.17269	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.52698	0.09003	0	.	.	5.54	1.81	0.24139	0.047000	0.13941	0.594000	0.19852	0.676000	0.76740	0.000000	0.06391	0.024000	0.20971	0.121000	0.19209	0.3102:0.0:0.5552:0.1346	4.957	0.13397	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1927.98	33	chr4	52017250	.	G	A	1927.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.943;DP=822;ExcessHet=0.0000;FS=2.155;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.07;ReadPosRankSum=-7.170e-01;SOR=0.519	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr4	52038237	52038239	GCC	-	exonic	SGCB	.	nonframeshift deletion	SGCB:NM_000232:exon1:c.21_23del:p.A9del,	Muscular dystrophy, limb-girdle, type 2E, Autosomal recessive	.	446	1068	7	1	0	9	0.0041958	.	.	966831	not_specified|Primary_dilated_cardiomyopathy	MedGen:CN169374|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0143	0	0	0	.	0.0225	0.1429	0.0117	3.84e-05	1	26028	rs768838951	0.0004	0.0029	0.0003	0.0005	0.0034	0.0004	0.0004	0.0029	0.0027	0.0004	0.0029	0.0011	0.0002	0.0012	0.0010	0.0002	0.0005	0.0034	0	3.947e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	39.99	23	chr4	52038236	.	AGCC	A	39.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.070e-01;DP=381;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0277;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=3.33;ReadPosRankSum=0.215;SOR=0.693	GT:AD:DP:GQ:PL	0/0:20,0:20:18:0,18,453	20	0	1	0
chr4	52743993	52743993	G	A	exonic	ERVMER34-1	.	nonsynonymous SNV	ERVMER34-1:NM_001242690:exon3:c.C1528T:p.R510C	.	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0015	0	0	0.0110	0	0	0.0114	0.0027	0.0002587	40	154602	rs573078217	0.0004	0.0003	0.0003	0.0005	0.0023	0.0004	0.0004	0.0020	0.0019	0	5.755e-05	0	0.0010	0	0.0017	0.0002	0.0002	0.0023	0.0003	0.0003	0.0003	0.0003	0.0023	0.0002	0.0002	0.0013	0.0010	0.0001	0	0	0	0.0023	0	0	0.0002	0.0005	0.0021	.	.	.	0.0	0.92824	D	0.975	0.58077	D	0.162	0.34839	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	.	.	.	0.196	0.21580	.	.	.	.	.	.	.	0.0060370564	0.00136	T	.	.	.	.	.	.	.	0.191931220699	0.18833	0.1859452106173684	0.18512	.	.	0.245777726173	0.03336	T	8.21E-4	0.00404	T	-0.469292	0.00859	T	-0.45243	0.27429	T	.	.	.	0.541746	0.18406	T	0.1466098	0.33555	0.09206829	0.21678	0.1466098	0.33554	0.09206829	0.21677	-1.074	0.01084	T	.	.	0.238	0.47228	B	.;.	.;.	1.939792	0.24637	16.47	0.99643812846126434	0.76819	0.00708	0.02999	N	AEFBHCI	0.056407	0.10426	N	.	.	.	.	.	.	0.00481535567771994	0.10723	0.732398	0.92422	0	0.547309	0.14657	0	0.743671	0.96076	0	0.616125	0.45549	0	.	.	2.42	-0.706	0.10682	-0.323000	0.08039	0.771000	0.21396	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1689:0.5045:0.3266:0.0	4.677	0.12101	333	0.86326	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1721.98	158	chr4	52743993	.	G	A	1721.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=857;ExcessHet=0.0000;FS=2.008;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.90;ReadPosRankSum=1.73;SOR=0.900	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1130	20	0	1	0
chr4	52744874	52744874	C	T	exonic	ERVMER34-1	.	nonsynonymous SNV	ERVMER34-1:NM_001242690:exon3:c.G647A:p.R216Q	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00795220505035	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1213190127	2.718e-05	2.386e-05	4.345e-05	1.339e-05	0.0002	1.631e-05	1.293e-05	0.0001	8.99e-05	0	8.642e-05	0	0.0002	0	0	9.464e-06	3.266e-05	0	2.631e-05	2.628e-05	2.572e-05	2.693e-05	5.882e-05	8.15e-06	5.15e-06	1.973e-05	1.125e-05	0	0	0	0	0	0	0	5.882e-05	0	0	.	.	.	.	.	.	0.016	0.17332	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	.	.	.	0.067	0.03956	.	.	.	.	.	.	.	0.036430657	0.01941	T	0.007952	0.21084	T	.	.	.	.	0.119812018005	0.11559	0.21336084767657723	0.21252	.	.	0.21949121356	0.01281	T	7.8E-5	0.00006	T	-0.423229	0.01632	T	-0.723171	0.04644	T	.	.	.	0.565643	0.19997	T	0.03233449	0.03238	0.06062532	0.11577	0.03233449	0.03238	0.06062532	0.11576	-3.478	0.16125	T	.	.	0.078	0.14201	B	.;.	.;.	0.989676	0.13675	10.21	0.98572567103399411	0.43128	0.00512	0.02396	N	AEFBHCI	0.020654	0.00838	N	.	.	.	.	.	.	8.46296129746789E-4	0.07902	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.530356	0.10902	0	.	.	1.03	-0.0802	0.13041	-0.663000	0.05398	-0.320000	0.09971	-0.339000	0.05715	0.040000	0.20979	0.000000	0.08366	0.700000	0.34141	0.0:0.3881:0.0:0.6119	2.728	0.04896	333	0.86326	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1358.98	92	chr4	52744874	.	C	T	1358.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.547;DP=1256;ExcessHet=0.0000;FS=0.719;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=-9.700e-02;SOR=0.738	GT:AD:DP:GQ:PL	0/0:88,0:88:99:0,120,1800	20	0	1	0
chr4	52744925	52744925	G	A	exonic	ERVMER34-1	.	nonsynonymous SNV	ERVMER34-1:NM_001242690:exon3:c.C596T:p.A199V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00531231985256	0.0022	0.00179712	0.0010	0.0075	0	0	0	0	0	0	0.0002135	33	154602	rs114652979	0.0003	0.0003	0.0004	0.0002	0.0075	0.0003	0.0002	0.0064	0.0060	0.0075	0.0004	0	0	0	0.0012	6.31e-06	0.0006	0	0.0022	0.0022	0.0022	0.0022	0.0079	0.0020	0.0019	0.0072	0.0069	0.0079	0	0.0006	0	0	0	0	0	0.0009	0	.	.	.	.	.	.	0.121	0.26708	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	.	.	.	0.059	0.03069	.	.	.	.	.	.	.	0.004546076	0.00094	T	0.005312	0.13587	T	.	.	.	.	0.0551355673512	0.04727	0.15176474567254195	0.15098	.	.	0.289976269007	0.08920	T	0.003975	0.03383	T	-0.555969	0.00268	T	-0.564564	0.15950	T	.	.	.	0.442956	0.12306	T	0.03846434	0.05127	0.10875088	0.26201	0.03846434	0.05127	0.10875088	0.26200	-3.036	0.10574	T	.	.	0.126	0.26855	B	.;.	.;.	0.398096	0.07692	4.369	0.7472273421477531	0.10802	0.06433	0.12439	N	AEFBCI	0.051618	0.09136	N	.	.	.	.	.	.	2.10239964520362E-4	0.05948	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.530356	0.10902	0	.	.	1.22	1.22	0.20300	1.415000	0.34355	0.435000	0.18365	0.509000	0.23192	0.003000	0.16062	0.000000	0.08366	0.056000	0.15673	0.0:0.0:1.0:0.0	5.892	0.18163	333	0.86326	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1497.98	92	chr4	52744925	.	G	A	1497.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=1285;ExcessHet=0.0000;FS=0.680;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=2.66;SOR=0.800	GT:AD:DP:GQ:PL	0/0:88,0:88:99:0,120,1800	20	0	1	0
chr4	52745123	52745123	C	G	exonic	ERVMER34-1	.	nonsynonymous SNV	ERVMER34-1:NM_001242690:exon3:c.G398C:p.S133T	.	.	431	1075	16	0	0	16	0.00738689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00231220863941	0.0004	0.00159744	0.0044	0.0004	0	0	0	0.0011	0	0.0090	0.000705	109	154602	rs185720967	0.0016	0.0014	0.0011	0.0020	0.0093	0.0015	0.0015	0.0087	0.0084	0	0.0020	9.985e-05	0	0	0.0052	0.0005	0.0021	0.0093	0.0008	0.0008	0.0005	0.0012	0.0070	0.0007	0.0007	0.0052	0.0045	0.0002	0	0.0038	0	0	0	0.0102	0.0003	0.0009	0.0070	.	.	.	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	.	.	.	0.019	0.00372	.	.	.	.	.	.	.	0.004608065	0.00096	T	0.002312	0.04452	T	.	.	.	.	0.0762999501168	0.06990	0.26040103510806806	0.25953	.	.	0.557054758072	0.46852	T	9.97E-4	0.00532	T	-0.643556	0.00079	T	-0.689238	0.06433	T	.	.	.	0.178782	0.01763	T	0.019858886	0.00526	0.061603524	0.11923	0.019858886	0.00526	0.061603524	0.11923	-3.0	0.10181	T	.	.	0.051	0.00286	B	.;.	.;.	0.054012	0.04668	1.317	0.87021243432755879	0.16933	0.00018	0.00208	N	AEFBI	0.012793	0.00150	N	.	.	.	.	.	.	9.41297695948815E-5	0.04910	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.530356	0.10902	0	.	.	1.22	0.352	0.15287	0.403000	0.20706	0.410000	0.18100	-1.251000	0.01302	0.025000	0.20085	0.000000	0.08366	0.002000	0.04165	0.0:0.3657:0.6343:0.0	5.340	0.15282	333	0.86326	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2134.98	92	chr4	52745123	.	C	G	2134.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.600e-02;DP=1296;ExcessHet=0.0000;FS=2.509;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=-2.110e-01;SOR=0.889	GT:AD:DP:GQ:PL	0/0:88,0:88:99:0,120,1800	20	0	1	0
chr4	53145477	53145477	T	C	exonic	SCFD2	.	nonsynonymous SNV	SCFD2:NM_152540:exon5:c.A1417G:p.I473V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.500	N	1.000	N	0.11	N	-1.0	T	-0.935	T	0.210	T	0.088	-2.061	0.006	-1.83	-0.366	-0.114	13.716	0.220	0.0383539863136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.159e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.721	0.07645	T	1.0	0.02320	T	0.0	0.02946	B	0.002	0.06944	B	0.500149	0.11959	N	0.763345	0.999999	0.08975	N	0	0.06538	N	-1.0	0.79475	T	0.17	0.05503	N	0.062	0.03392	-0.9355	0.43318	T	0.210	0.56987	T	10	0.06979209	0.10064	T	0.038354	0.58173	D	0.220	0.51569	0.277	0.23004	0.218112801441	0.21410	0.08298338610072416	0.08233	0.143220915427	0.16158	0.389911532402	0.23657	T	0.060098	0.31295	T	-0.183051	0.23284	T	-0.500716	0.22273	T	0.0229056347161531	0.01012	T	0.688631	0.29780	T	0.024906462	0.01370	0.035201468	0.02727	0.024906462	0.01369	0.035201468	0.02726	-1.847	0.02653	T	.	.	0.071	0.05756	B	.;.	.;.	0.110711	0.05102	1.635	0.20966396445076937	0.00778	0.02623	0.07209	N	AEFBI	0.039849	0.05844	N	-1.39337633456026	0.02699	0.1195753	-1.34234769508233	0.03896	0.182715	0.00250006729755947	0.09478	0.706298	0.61202	0	0.724815	0.89359	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	4.81	-1.83	0.07410	-0.112000	0.10762	-0.809000	0.07342	-0.716000	0.03877	0.218000	0.24513	0.000000	0.08366	0.164000	0.20782	0.0:0.6067:0.0:0.3933	13.716	0.62173	591	0.68823	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	733.66	116	chr4	53145477	.	T	C	733.66	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-4.026e+00;DP=1805;ExcessHet=2.5830;FS=148.015;InbreedingCoeff=-0.1887;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=0.79;ReadPosRankSum=0.708;SOR=11.035	GT:AD:DP:GQ:PL	0/0:111,0:111:92:0,92,2660	14	0	7	0
chr4	53352667	53352667	G	A	exonic	SCFD2	.	nonsynonymous SNV	SCFD2:NM_152540:exon2:c.C938T:p.A313V,	.	.	435	1048	36	3	0	42	0.0196445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.008	B	0.008	B	0.000	D	1.000	N	0	N	-2.01	D	-0.790	T	0.318	T	0.271	1.165	9.740	4.15	0.849	3.548	11.600	0.244	.	0.0018	0.0127796	0.0081	0.0003	0.0021	0	0	0.0025	0.0155	0.0472	0.0072121	1115	154602	rs147606542	0.0044	0.0044	0.0029	0.0059	0.0484	0.0043	0.0043	0.0472	0.0467	0.0007	0.0010	0.0102	7.557e-05	0	0.0165	0.0013	0.0057	0.0484	0.0029	0.0030	0.0023	0.0037	0.0483	0.0027	0.0026	0.0432	0.0412	0.0003	0	0.0012	0.0153	0	9.422e-05	0.0102	0.0018	0.0033	0.0483	0.161	0.34621	T	0.007	0.69154	D	0.005	0.14655	B	0.003	0.13708	B	0.000005	0.62929	D	0.060828	0.999646	0.20796	N	0.345	0.11182	N	-2.01	0.85468	D	-1.22	0.32387	N	0.333	0.37613	-0.7904	0.55706	T	0.318	0.68779	T	10	0.0073967874	0.00168	T	.	.	.	0.244	0.55061	.	.	0.80504618492	0.80322	0.24291852783345025	0.24205	0.195167961447	0.21852	0.373945266008	0.21396	T	0.185283	0.53820	T	-0.361719	0.04034	T	-0.256591	0.49163	T	0.0184760098629361	0.00563	T	0.852615	0.53799	D	0.039329845	0.05411	0.056673326	0.10169	0.039329845	0.05410	0.056673326	0.10169	-4.853	0.38408	T	.	.	0.145	0.31980	B	.;.;.;.	.;.;.;.	1.982650	0.25189	16.67	0.94545149459678823	0.25056	0.74740	0.36570	D	AEFDBI	0.137870	0.25899	N	-0.668099569290839	0.16934	0.8671762	-0.498975521825984	0.22182	1.203574	0.99253700277276	0.32874	0.732398	0.92422	0	0.724815	0.89359	0	0.608884	0.39905	0	0.727631	0.95156	0	.	.	5.33	4.15	0.47978	3.576000	0.53622	3.493000	0.38728	-0.166000	0.11466	1.000000	0.71638	1.000000	0.68203	0.008000	0.08271	0.0:0.0:0.1497:0.8503	11.600	0.50254	611	0.66908	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1271.11	41	chr4	53352667	.	G	A	1271.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.586;DP=824;ExcessHet=0.1072;FS=0.627;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.89;ReadPosRankSum=1.08;SOR=0.759	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1037	19	0	2	0
chr4	53478601	53478601	C	T	exonic	LNX1	.	nonsynonymous SNV	LNX1:NM_032622:exon7:c.G1339A:p.G447R	.	.	435	1081	6	0	0	6	0.00276753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.996	D	0.936	D	0.000	D	1.000	D	2.325	M	1.02	T	-0.793	T	0.241	T	0.489	4.123	21.3	4.92	2.715	5.065	18.671	0.244	.	0.0002	0.00279553	0.0023	9.621e-05	0.0005	0	0	0.0004	0.0022	0.0148	0.001934	299	154602	rs376500430	0.0011	0.0011	0.0006	0.0016	0.0159	0.0011	0.0011	0.0152	0.0150	2.987e-05	0.0002	3.829e-05	5.04e-05	0	0.0023	0.0002	0.0015	0.0159	0.0007	0.0007	0.0003	0.0010	0.0147	0.0006	0.0005	0.0120	0.0110	0	0	0.0006	0	0	0	0	0.0003	0	0.0147	0.093	0.31532	T	0.125	0.35330	T	0.996	0.68779	D	0.766	0.67150	P	0.000012	0.62929	D	0.119366	1	0.81001	D	2.59	0.75718	M	1.02	0.40749	T	-1.55	0.39314	N	0.558	0.58287	-0.7933	0.55537	T	0.241	0.60953	T	10	0.015095741	0.00317	T	.	.	.	0.244	0.55061	0.897	0.97640	0.675902767571	0.67315	0.4400213059936803	0.43919	0.415149338559	0.42179	0.596617400646	0.52427	T	0.137294	0.47015	T	-0.382521	0.03003	T	-0.309917	0.43667	T	0.0690486747686438	0.08518	T	0.925707	0.72678	D	0.27302185	0.50371	0.20425473	0.44541	0.27302185	0.50370	0.20425473	0.44540	-8.04	0.64798	D	.	.	0.255	0.48998	B	.;.	.;.	4.566505	0.72014	25.8	0.99926548202128795	0.99103	0.88238	0.48077	D	AEFBCI	0.696865	0.65506	D	0.617818607716982	0.74303	6.109544	0.59868830631613	0.74844	6.20698	0.999999997720379	0.74766	0.653281	0.48532	0	0.588015	0.36545	0	0.675528	0.61593	0	0.655142	0.61905	0	.	.	4.92	4.92	0.64147	5.220000	0.65099	7.709000	0.66702	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.806000	0.37994	0.0:1.0:0.0:0.0	18.671	0.91468	419	0.81524	.;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2140.98	35	chr4	53478601	.	C	T	2140.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=890;ExcessHet=0.0000;FS=3.682;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=0.748;SOR=0.449	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1372	20	0	1	0
chr4	53481842	53481842	G	A	exonic	LNX1	.	nonsynonymous SNV	LNX1:NM_032622:exon6:c.C1075T:p.R359C	.	.	421	1051	49	1	0	51	0.0236879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.539	P	0.105	B	0.000	D	1.000	D	1.875	L	1.66	T	-1.104	T	0.058	T	0.279	0.971	8.964	3.19	0.668	3.416	7.047	0.096	.	0.0015	0.00439297	0.0049	0.0003	0.0023	0.0002	0	0.0024	0.0024	0.0285	0.004269	660	154602	rs116172001	0.0028	0.0028	0.0021	0.0036	0.0251	0.0027	0.0027	0.0242	0.0238	0.0003	0.0015	0.0059	0.0001	0.0002	0.0143	0.0013	0.0037	0.0251	0.0019	0.0019	0.0016	0.0022	0.0257	0.0017	0.0016	0.0220	0.0206	0.0002	0	0.0008	0.0069	0.0006	0.0002	0.0102	0.0015	0.0033	0.0257	0.046	0.46910	D	0.104	0.39954	T	0.539	0.37887	P	0.105	0.31087	B	0.000295	0.46274	D	0.225845	1	0.81001	D	1.63	0.41750	L	1.66	0.27486	T	-4.73	0.80767	D	0.432	0.47115	-1.1036	0.03683	T	0.058	0.24204	T	10	0.01123631	0.00246	T	.	.	.	0.096	0.27654	.	.	0.546217525997	0.54276	0.4752584774970142	0.47444	0.423205552803	0.42792	0.447529733181	0.31607	T	0.228087	0.59354	T	-0.49627	0.00600	T	-0.46738	0.25800	T	0.0415929108249104	0.03980	T	0.90031	0.65351	D	0.19297038	0.40988	0.16346437	0.37918	0.19297038	0.40987	0.16346437	0.37918	-12.214	0.85878	D	.	.	0.105	0.19357	B	.;.	.;.	3.751756	0.53785	23.4	0.98007074674155337	0.37521	0.89332	0.49733	D	AEFDBI	0.394525	0.47175	N	-0.222784782840169	0.32199	1.813438	-0.192843332856844	0.31798	1.802972	0.99824575610858	0.36633	0.653281	0.48532	0	0.588015	0.36545	0	0.675528	0.61593	0	0.567892	0.33627	0	.	.	4.91	3.19	0.35720	2.918000	0.48526	4.018000	0.41224	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.044000	0.14658	0.1514:0.1406:0.708:0.0	7.047	0.24227	418	0.81602	.;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1187.11	28	chr4	53481842	.	G	A	1187.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.957;DP=729;ExcessHet=0.1072;FS=2.819;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.34;ReadPosRankSum=0.483;SOR=0.445	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	19	0	2	0
chr4	53573978	53573978	C	T	exonic	LNX1	.	nonsynonymous SNV	LNX1:NM_001126328:exon2:c.G25A:p.D9N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.384	B	0.038	B	0.130	N	1.000	N	1.61	L	4.62	T	-1.012	T	0.024	T	0.065	1.039	9.245	3.36	0.433	1.762	7.252	0.024	.	0.0054	0.00658946	0.0020	0.0237	0.0009	0	0.0002	4.632e-05	0.0012	0.0001	0.0018628	288	154602	rs116744860	0.0006	0.0006	0.0007	0.0005	0.0211	0.0006	0.0006	0.0198	0.0193	0.0211	0.0014	0	2.521e-05	7.493e-05	0.0009	5.22e-05	0.0014	9.311e-05	0.0058	0.0059	0.0060	0.0057	0.0201	0.0055	0.0054	0.0190	0.0185	0.0201	0	0.0026	0	0	9.436e-05	0.0034	0.0001	0.0028	0	0.382	0.11120	T	0.225	0.25514	T	0.384	0.34453	B	0.038	0.23361	B	0.129698	0.02798	N	1.654820	0.999997	0.08975	N	2.08	0.57402	M	4.62	0.19020	T	-0.09	0.82341	N	0.134	0.13055	-1.0116	0.26416	T	0.024	0.10284	T	10	0.0038034618	0.00071	T	.	.	.	0.024	0.04979	.	.	0.323342291347	0.31936	0.28733084384244584	0.28646	0.0724097737162	0.08119	0.28898152709	0.08775	T	0.065477	0.32698	T	-0.664839	0.00059	T	-0.710852	0.05252	T	0.00502954329613607	0.00054	T	0.385761	0.09460	T	0.029050965	0.02339	0.024796732	0.00506	0.029050965	0.02339	0.024796732	0.00506	-4.621	0.32435	T	.	.	0.083	0.09433	B	.;.;.;.;.	.;.;.;.;.	0.810282	0.11810	8.382	0.71303862364798853	0.09584	0.07244	0.13268	N	AEFDBHI	0.116156	0.22809	N	-0.809693794849597	0.13062	0.6408906	-0.835950823376246	0.13625	0.7078652	0.999989190710251	0.51787	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.662026	0.63922	0	.	.	5.98	3.36	0.37579	1.625000	0.36639	0.930000	0.22772	-0.230000	0.07744	0.001000	0.13787	0.095000	0.22593	0.002000	0.04165	0.0:0.7019:0.1473:0.1507	7.252	0.25329	524	0.74079	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3498.98	33	chr4	53573978	.	C	T	3498.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.26;DP=993;ExcessHet=0.0000;FS=1.394;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=-6.020e-01;SOR=0.801	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1269	20	0	1	0
chr4	54010140	54010140	G	C	exonic	CHIC2	.	nonsynonymous SNV	CHIC2:NM_012110:exon6:c.C453G:p.I151M,	.	.	464	1056	2	0	0	2	0.000946074	.	.	3297032	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.956	P	0.671	P	0.000	D	1.000	D	1.905	M	.	.	-0.537	T	0.326	T	0.778	2.749	15.15	5.75	2.701	2.179	14.137	0.131	0.0101022180117	7.7e-05	.	0.0002	0	8.924e-05	0	0	0.0003	0	0	0.0001552	24	154602	rs372598321	0.0001	0.0001	0.0001	0.0001	0.0005	9.727e-05	9.203e-05	0.0001	7.57e-05	0	4.485e-05	0.0020	0	0	0.0005	8.507e-05	0.0002	0	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	0	0	6.563e-05	0.0017	0	0	0	0.0003	0	0	0.011	0.57480	D	0.03	0.54934	D	0.956	0.54666	P	0.671	0.53151	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.67	0.42885	L	.	.	.	-1.17	0.29933	N	0.741	0.81261	-0.5373	0.67266	T	0.326	0.69461	T	9	0.16647601	0.31087	T	0.010102	0.26235	T	0.247	0.55478	.	.	0.681951388522	0.67924	0.5978692133459061	0.59717	1.5162887928	0.87322	0.861303806305	0.91303	D	0.199137	0.55633	T	-0.0171252	0.49262	T	0.0324592	0.72438	D	0.122984938323498	0.14719	T	0.946705	0.79569	D	0.3291348	0.55400	0.28072757	0.54049	0.3291348	0.55400	0.28072757	0.54048	-3.82	0.21104	T	.	.	0.697	0.72836	P	.;.	.;.	4.424417	0.68558	25.3	0.99662822401717588	0.78074	0.95531	0.65092	D	AEFBI	0.416914	0.48517	N	0.359303483399902	0.59231	4.10099	0.439016316251181	0.64013	4.647249	0.467339828100099	0.20677	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.75	5.75	0.90390	1.817000	0.38640	9.944000	0.82678	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0715:0.0:0.9285:0.0	14.137	0.64830	683	0.59664	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	975.98	32	chr4	54010140	.	G	C	975.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.130e-01;DP=684;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.38;ReadPosRankSum=-7.040e-01;SOR=0.710	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,905	20	0	1	0
chr4	55095651	55095651	T	C	exonic	KDR	.	nonsynonymous SNV	KDR:NM_002253:exon20:c.A2743G:p.I915V,	Hemangioma, capillary infantile, somatic	.	.	.	.	.	.	.	.	.	.	683638	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.998	D	0.000	D	1.000	D	0.195	N	-1.37	T	0.105	D	0.490	T	0.677	4.740	26.5	5.98	2.285	6.243	16.461	0.498	0.0519535719946	7.7e-05	.	0.0002	0	0	0	0	0.0003	0	0	0.0001488	23	154602	rs140228618	0.0001	0.0001	0.0001	0.0001	0.0001	9.541e-05	9.021e-05	0.0001	0.0001	0	0	0.0007	0	5.617e-05	0	0.0001	3.314e-05	0	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.245e-05	0.0002	0.0002	0	0	0	0.0006	0	9.432e-05	0	0.0003	0	0	0.032	0.44694	D	0.137	0.33894	T	0.999	0.77913	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.29	0.10111	N	-1.37	0.80214	T	-0.83	0.22727	N	0.409	0.44952	0.105	0.84272	D	0.490	0.80639	T	10	0.33789206	0.50903	T	0.051954	0.64874	D	0.498	0.78226	.	.	0.429154209284	0.42533	0.5306005881388483	0.52984	0.618409321082	0.56233	0.804474115372	0.82646	D	0.280509	0.65322	T	-0.050998	0.44296	T	-0.00790233	0.69822	D	0.181882159360227	0.19354	T	0.911709	0.68653	D	0.42006734	0.62096	0.26408666	0.52223	0.42006734	0.62096	0.26408666	0.52222	-5.368	0.40611	T	.	.	0.153	0.33755	B	.;.	.;.	4.516397	0.70779	25.6	0.99895218845461531	0.96819	0.98491	0.83340	D	AEFBI	0.837921	0.75550	D	0.568054884393165	0.71188	5.613048	0.636175990789648	0.77583	6.707767	0.999999999961409	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.98	5.98	0.97147	6.223000	0.72203	7.923000	0.74625	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	16.461	0.83899	698	0.58074	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1065.98	33	chr4	55095651	.	T	C	1065.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.183e+00;DP=788;ExcessHet=0.0000;FS=1.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=-1.644e+00;SOR=0.497	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1218	20	0	1	0
chr4	55098698	55098698	C	T	exonic	KDR	.	nonsynonymous SNV	KDR:NM_002253:exon16:c.G2372A:p.R791Q,	Hemangioma, capillary infantile, somatic	.	.	.	.	.	.	.	.	0.9797	0.586	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.97	D	0.3	B	0.000	D	1.000	D	0.825	L	-1.16	T	-0.420	T	0.307	T	0.639	3.933	20.1	5.97	2.831	4.571	20.406	0.431	0.0568527894096	.	.	1.653e-05	0	0	0.0002	0	0	0	0	1.94e-05	3	154602	rs758102038	1.648e-05	1.847e-05	2.051e-05	1.242e-05	0.0005	1.115e-05	9.37e-06	0.0003	0.0002	0	0	0	0.0005	0	0	5.419e-06	0	0	1.973e-05	2.627e-05	0	4.039e-05	0.0002	5.25e-06	2.46e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.941e-05	0	0	0.035	0.43708	D	0.067	0.44302	T	0.97	0.56973	D	0.3	0.41053	B	0.000139	0.49741	D	0.134191	0.999993	0.58761	D	1.5	0.37844	L	-1.16	0.78082	T	-2.4	0.52776	N	0.784	0.78072	-0.4205	0.71376	T	0.307	0.67768	T	10	0.41706958	0.56612	T	0.056853	0.66755	D	0.431	0.73735	0.535	0.64439	0.379559396232	0.37572	0.6643408950175378	0.66371	0.450419126629	0.44807	0.5437297225	0.44972	T	0.533778	0.83913	D	-0.0954843	0.37170	T	-0.0827843	0.64700	T	0.525377600069686	0.33563	D	0.954705	0.82752	D	0.312546	0.54005	0.39742497	0.64358	0.312546	0.54005	0.39742497	0.64358	-6.202	0.47939	T	.	.	0.113	0.22171	B	.;.	.;.	5.122464	0.85684	28.7	0.99930586709580149	0.99334	0.96370	0.68806	D	AEFBI	0.776443	0.70955	D	0.42637032692368	0.62877	4.511022	0.536533606400716	0.70467	5.509415	0.999988907132498	0.51787	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	4.708000	0.61548	7.727000	0.67598	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.406	0.99010	699	0.57969	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	442.98	34	chr4	55098698	.	C	T	442.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.090e-01;DP=758;ExcessHet=0.0000;FS=2.208;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.92;ReadPosRankSum=1.03;SOR=0.441	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1043	20	0	1	0
chr4	55098774	55098774	T	A	exonic	KDR	.	nonsynonymous SNV	KDR:NM_002253:exon16:c.A2296T:p.I766F,	Hemangioma, capillary infantile, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.993	D	0.839	P	0.000	D	1.000	D	1.63	L	-1.24	T	-0.055	T	0.477	T	0.594	2.748	15.15	4.8	2.283	4.223	11.511	0.507	0.2150493001	.	.	3.305e-05	0	8.726e-05	0	0	0	0.0022	6.066e-05	2.59e-05	4	154602	rs141493431	7.529e-06	7.524e-06	5.448e-06	9.631e-06	0.0002	4.04e-06	2.95e-06	4.579e-05	3.273e-05	0	0	0	0	0	0.0002	0	3.314e-05	9.277e-05	6.569e-06	6.562e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.72154	D	0.005	0.72224	D	0.993	0.65571	D	0.839	0.60107	P	0.000171	0.48594	D	0.179902	1	0.81001	D	2.475	0.71894	M	-1.24	0.78967	T	-3.2	0.64710	D	0.586	0.60664	-0.0546	0.81108	T	0.477	0.79976	T	10	0.7390729	0.74828	D	0.215049	0.87488	D	0.507	0.78786	0.472	0.54699	0.19168177325	0.18762	0.7395255652782425	0.73897	0.762294146699	0.64330	0.581488251686	0.50295	T	0.545221	0.84501	D	-0.103063	0.35918	T	-0.0936708	0.63884	T	0.805408656597137	0.46725	D	0.954605	0.82717	D	0.6768797	0.76801	0.43152794	0.66768	0.6768797	0.76803	0.43152794	0.66768	-6.481	0.50140	T	.	.	0.375	0.58144	A	.;.	.;.	3.621383	0.51253	23.1	0.98536523714634261	0.42657	0.95957	0.66890	D	AEFGBI	0.802545	0.72794	D	0.445876558438516	0.63969	4.641371	0.412624606222634	0.62349	4.449029	0.99953586469023	0.40238	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.97	4.8	0.61157	2.319000	0.43447	5.113000	0.47528	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.027000	0.12703	0.0:0.0696:0.0:0.9304	11.511	0.49746	700	0.57880	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1104.98	34	chr4	55098774	.	T	A	1104.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.110e-01;DP=785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=-5.830e-01;SOR=0.776	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1043	20	0	1	0
chr4	55102484	55102484	C	T	exonic	KDR	.	nonsynonymous SNV	KDR:NM_002253:exon14:c.G2012A:p.G671E,	Hemangioma, capillary infantile, somatic	.	2	1513	7	0	0	7	0.00230795	.	.	920724	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.4	B	0.243	B	0.005	N	0.994	D	-0.705	N	-0.18	T	-0.915	T	0.096	T	0.486	0.878	8.563	5.17	1.522	2.058	16.946	0.219	0.0235904900503	0.0002	0.000399361	0.0002	9.612e-05	0	0	0	0.0003	0.0011	0.0005	0.0002264	35	154602	rs149740758	0.0001	0.0001	0.0001	0.0002	0.0026	0.0001	0.0001	0.0016	0.0013	8.969e-05	0.0005	3.828e-05	0	0	0.0026	9.175e-05	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	2.406e-05	0	0.0004	0.0003	0	0	0.0068	0.0002	0.0005	0.0004	0.318	0.13654	T	0.257	0.23231	T	0.4	0.34852	B	0.243	0.38752	B	0.004804	0.33369	N	0.332281	0.994303	0.42233	D	-0.265	0.03777	N	-0.18	0.65747	T	0.34	0.03824	N	0.285	0.32259	-0.9149	0.46233	T	0.096	0.36133	T	10	0.0712392	0.10474	T	0.02359	0.46557	T	0.219	0.51417	.	.	0.134007934775	0.12933	0.7559511456578014	0.75543	0.210862529731	0.23587	0.547307491302	0.45478	T	0.07849	0.35903	T	-0.271478	0.11593	T	-0.291477	0.45618	T	0.034966227377001	0.02802	T	0.765923	0.39354	T	0.19775377	0.41652	0.114104606	0.27542	0.19775377	0.41652	0.114104606	0.27541	-0.419	0.00536	T	.	.	0.096	0.15341	B	.;.	.;.	2.371955	0.30435	18.44	0.87929882265626835	0.17588	0.93549	0.58520	D	AEFBI	0.370170	0.45664	N	-0.532072375761519	0.21050	1.114243	-0.374925991644683	0.25746	1.417808	0.999977652612898	0.50053	0.722319	0.85440	0	0.573888	0.26702	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	6.02	5.17	0.70848	1.603000	0.36404	4.225000	0.42617	0.599000	0.40250	0.637000	0.28059	0.999000	0.35428	0.182000	0.21359	0.0:0.8719:0.1281:0.0	16.946	0.86101	709	0.56835	Immunoglobulin I-set|Immunoglobulin-like domain;Immunoglobulin I-set|Immunoglobulin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1188.98	33	chr4	55102484	.	C	T	1188.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.040e-01;DP=801;ExcessHet=0.0000;FS=0.873;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=-8.450e-01;SOR=0.914	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr4	55864320	55864320	A	G	exonic	EXOC1	.	nonsynonymous SNV	EXOC1:NM_001024924:exon4:c.A349G:p.K117E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.999	D	0.996	D	0.000	D	1.000	D	2.35	M	.	.	-0.117	T	0.441	T	0.893	4.866	27.8	5.28	2.117	8.910	15.489	0.415	0.0126112862705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.012	0.63918	D	0.952	0.77913	P	0.829	0.84481	P	0.000000	0.84330	D	0.089061	1	0.81001	D	2.31	0.66127	M	.	.	.	-2.58	0.55662	D	0.854	0.87590	-0.1166	0.79714	T	0.441	0.77928	T	9	0.83472383	0.82630	D	0.012611	0.31334	T	0.415	0.72555	0.482	0.56302	0.906822451116	0.90589	0.6183190342715053	0.61764	0.679222454985	0.59926	0.83840918541	0.87852	D	0.416574	0.76948	T	0.428361	0.91451	D	0.377535	0.91345	D	0.987091779708862	0.77660	D	0.957954	0.84201	D	0.58183545	0.71708	0.5667625	0.74922	0.58183545	0.71709	0.5667625	0.74922	-11.787	0.84227	D	.	.	0.978	0.92404	P	.;.;.	.;.;.	4.929267	0.81258	27.5	0.99898347336834525	0.97048	0.98467	0.83083	D	AEGBI	0.921638	0.89544	D	0.771775303428171	0.84315	8.253221	0.751222830809216	0.86247	8.828958	0.999999999948835	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.28	5.28	0.74118	8.867000	0.91934	11.247000	0.90615	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.489	0.75320	904	0.23766	Exocyst complex component Sec3, PIP2-binding N-terminal domain|Exocyst complex component Sec3, PIP2-binding N-terminal domain;Exocyst complex component Sec3, PIP2-binding N-terminal domain|Exocyst complex component Sec3, PIP2-binding N-terminal domain;Exocyst complex component Sec3, PIP2-binding N-terminal domain|Exocyst complex component Sec3, PIP2-binding N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	865.98	34	chr4	55864320	.	A	G	865.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.432;DP=748;ExcessHet=0.0000;FS=0.896;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.20;ReadPosRankSum=-1.044e+00;SOR=0.748	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,825	20	0	1	0
chr4	55959703	55959703	A	C	exonic	CEP135	.	nonsynonymous SNV	CEP135:NM_025009:exon6:c.A636C:p.E212D,	.	.	.	.	.	.	.	.	.	.	.	207122	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.35	T	0.997	D	0.885	P	0.000	D	0.996	D	2.54	M	0.6	T	-0.632	T	0.282	T	0.443	2.271	13.55	3.53	0.723	2.238	10.819	0.175	.	0.0002	0.00139776	0.0018	0	0	0.0023	0.0165	0.0012	0.0088	0.0003	0.0014812	229	154602	rs76941356	0.0008	0.0008	0.0008	0.0008	0.0042	0.0008	0.0008	0.0037	0.0035	0	2.236e-05	0	0.0042	0.0145	0.0002	0.0001	0.0013	0.0006	0.0015	0.0015	0.0007	0.0024	0.0037	0.0014	0.0013	0.0024	0.0020	0	0	0	0	0.0037	0.0182	0	0.0002	0	0.0014	0.116	0.29029	T	0.251	0.23638	T	0.997	0.70673	D	0.885	0.62825	P	0.000000	0.84330	D	0.052714	0.955715	0.43003	D	1.745	0.45235	L	0.6	0.53731	T	-2.0	0.46146	N	0.113	0.28732	-0.6319	0.63490	T	0.282	0.65350	T	10	0.00460732	0.00096	T	.	.	.	0.175	0.44197	0.099	0.01433	0.646850752827	0.64392	0.6351119569953729	0.63445	0.251755120529	0.27752	0.488244026899	0.37194	T	0.023593	0.17984	T	-0.396993	0.02423	T	-0.346394	0.39619	T	0.04095710092542	0.03863	T	0.80472	0.45334	T	0.17123732	0.37746	0.17740516	0.40340	0.16657594	0.37001	0.18162265	0.41036	-6.3	0.48722	T	.	.	0.182	0.39596	B	.;.	.;.	2.141521	0.27274	17.41	0.99129589597126089	0.53222	0.76127	0.37314	D	AEFBCI	0.184522	0.31185	N	0.176201410251694	0.50057	3.199559	0.17120673194429	0.48277	3.045764	0.016922862607621	0.12891	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.78	3.53	0.39533	2.252000	0.42849	3.563000	0.39095	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.9234:0.0:0.0766:0.0	10.819	0.45795	756	0.51065	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	951.98	33	chr4	55959703	.	A	C	951.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.449e+00;DP=805;ExcessHet=0.0000;FS=2.462;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.14;ReadPosRankSum=-4.210e-01;SOR=0.454	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1230	20	0	1	0
chr4	55965813	55965815	AAG	-	exonic	CEP135	.	nonframeshift deletion	CEP135:NM_025009:exon8:c.998_1000del:p.E335del,	.	.	3	1480	38	1	0	40	0.0133333	.	.	207124	not_specified|not_provided|CEP135-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.000998403	0.0026	0.0003	0.0012	0	0.0065	0.0033	0.0057	0.0015	0.0002689	7	26028	rs1269311613	0.0021	0.0021	0.0021	0.0021	0.0168	0.0020	0.0020	0.0141	0.0131	0.0010	0.0018	0.0074	0	0.0073	0.0168	0.0017	0.0035	0.0014	0.0021	0.0021	0.0018	0.0024	0.0024	0.0019	0.0018	0.0021	0.0020	0.0004	0	0.0018	0.0092	0	0.0063	0.0034	0.0024	0.0057	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1731.94	34	chr4	55965812	.	AAAG	A	1731.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.675e+00;DP=811;ExcessHet=0.0000;FS=1.821;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.15;ReadPosRankSum=0.675;SOR=0.481	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr4	56020725	56020725	T	A	exonic	CEP135	.	nonsynonymous SNV	CEP135:NM_025009:exon24:c.T3265A:p.L1089I,	.	.	2	1518	2	0	0	2	0.000658328	.	.	207132	CEP135-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.07	T	0.944	P	0.719	P	0.000	D	0.998	N	2.255	M	2.47	T	-1.106	T	0.032	T	0.307	3.480	17.81	0.646	0.499	1.030	3.596	0.094	0.00904420094222	0.0017	0.00259585	0.0007	0.0070	0.0004	0	0	1.499e-05	0.0011	0	0.0006404	99	154602	rs76659072	0.0002	0.0002	0.0003	0.0002	0.0085	0.0002	0.0002	0.0076	0.0073	0.0085	0.0003	0	0	0	0.0003	3.598e-06	0.0005	2.32e-05	0.0023	0.0023	0.0024	0.0022	0.0082	0.0021	0.0020	0.0075	0.0072	0.0082	0	0.0004	0	0	0	0	2.94e-05	0.0014	0	0.018	0.50676	D	0.054	0.47097	T	0.944	0.53183	P	0.719	0.54822	P	0.000258	0.46924	D	0.144743	0.999457	0.21167	N	2.65	0.77586	M	2.47	0.14783	T	-1.29	0.32387	N	0.401	0.44187	-1.1062	0.03417	T	0.032	0.13548	T	10	0.0075767636	0.00172	T	0.009044	0.23797	T	0.094	0.27141	.	.	0.321108458156	0.31720	0.2772393747035957	0.27636	0.18944392901	0.21264	0.49319922924	0.37883	T	0.112009	0.42795	T	-0.50034	0.00569	T	-0.485789	0.23833	T	0.0458121193649831	0.04749	T	0.873313	0.58144	D	0.083641894	0.19324	0.07414592	0.16188	0.083641894	0.19324	0.07414592	0.16188	-5.729	0.43950	T	.	.	0.108	0.20313	B	.	.	3.192534	0.43383	21.7	0.99252316636306448	0.56924	0.65738	0.32838	D	AEFBI	0.062901	0.12121	N	0.0630162764093904	0.44744	2.742858	-0.0618350651204212	0.36982	2.159333	0.00159027978579459	0.08668	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.96	0.646	0.16961	1.076000	0.30340	1.498000	0.26936	-0.115000	0.14600	0.999000	0.42656	0.971000	0.29754	0.836000	0.39433	0.291:0.3614:0.0:0.3476	3.596	0.07554	872	0.31118	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	1311.98	34	chr4	56020725	.	T	A	1311.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.86;ReadPosRankSum=-3.180e-01;SOR=0.668	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1248	20	0	1	0
chr4	56307569	56307569	G	A	exonic	CRACD	.	nonsynonymous SNV	CRACD:NM_020722:exon5:c.G155A:p.R52Q,	.	.	.	.	.	.	.	.	.	.	.	3242427	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.35	T	0.766	P	0.113	B	.	.	0.998	N	1.445	L	2.64	T	-1.013	T	0.023	T	0.135	1.515	11.02	1.06	0.129	0.504	9.569	0.026	0.012797496782	0.0004	0.000599042	0.0003	0.0001	0.0006	0.0003	0	0.0003	0	0.0002	0.0002717	42	154602	rs201101039	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0	0.0004	1.872e-05	0.0003	0.0002	0.0003	0.0002	0.0002	0.0002	0.0003	0.0001	0.0010	0.0001	0.0001	0.0004	0.0002	4.815e-05	0	0.0001	0	0.0010	0	0.0034	0.0002	0	0.0008	0.341	0.12673	T	0.357	0.17115	T	0.766	0.43754	P	0.113	0.31689	B	.	.	.	.	0.998119	0.22343	N	1.955	0.52871	M	2.62	0.12988	T	-0.14	0.15986	N	0.159	0.20262	-1.0132	0.25912	T	0.023	0.09923	T	9	0.012897223	0.00275	T	0.012797	0.31686	T	0.026	0.05648	.	.	0.0762999501168	0.06990	0.2201372019180407	0.21929	0.916642512623	0.71263	0.221367523074	0.01390	T	0.00639	0.13603	T	-0.528674	0.00391	T	-0.667179	0.07791	T	0.0344381725003906	0.02713	T	0.635836	0.24975	T	0.021241428	0.00716	0.044221558	0.05680	0.021241428	0.00716	0.044221558	0.05679	-2.01	0.03219	T	.	.	0.077	0.12797	B	.;.;.;.;.	.;.;.;.;.	2.272685	0.29051	18.00	0.92345345630362541	0.21745	0.27892	0.23403	N	AEFDBHCIJ	0.157506	0.28302	N	-0.684630364140613	0.16459	0.8387822	-0.699588235326289	0.16970	0.9002615	0.998383670434922	0.36869	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.59522	0.37078	0	.	.	5.84	1.06	0.19341	0.536000	0.22838	0.997000	0.23233	-0.667000	0.04321	0.058000	0.21700	1.000000	0.68203	0.276000	0.23917	0.2875:0.2598:0.4526:0.0	9.569	0.38583	286	0.88678	Domain of unknown function DUF4592;Domain of unknown function DUF4592;Domain of unknown function DUF4592;Domain of unknown function DUF4592;Domain of unknown function DUF4592	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1313.98	33	chr4	56307569	.	G	A	1313.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.080e-01;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=-5.440e-01;SOR=0.694	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr4	56313237	56313237	C	T	exonic	CRACD	.	nonsynonymous SNV	CRACD:NM_020722:exon7:c.C395T:p.S132F,	.	.	430	1088	3	1	0	5	0.00229253	.	.	3242469	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.991	D	.	.	1.000	D	2.39	M	2.32	T	-0.831	T	0.162	T	0.677	4.248	22.1	5.37	2.518	4.543	19.107	0.213	0.025375443972	.	0.000199681	0.0002	0	0.0002	0	0	4.5e-05	0	0.0012	0.0001617	25	154602	rs562669866	0.0001	0.0001	7.214e-05	0.0002	0.0016	0.0001	0.0001	0.0013	0.0013	0	6.708e-05	0	0	0	0.0007	5.036e-05	0.0002	0.0016	8.535e-05	8.53e-05	7.709e-05	9.398e-05	0.0015	4.953e-05	3.96e-05	0.0007	0.0005	0	0	6.536e-05	0	0	0	0	5.879e-05	0.0005	0.0015	0.001	0.78490	D	0.008	0.67890	D	1.0	0.90584	D	0.988	0.77976	D	.	.	.	.	0.999963	0.52935	D	2.71	0.79292	M	2.32	0.20122	T	-4.66	0.79482	D	0.533	0.70263	-0.8306	0.53263	T	0.162	0.49781	T	9	0.04098326	0.02713	T	0.025375	0.48351	D	0.213	0.50496	0.294	0.25720	0.419713421852	0.41588	0.34044394730397987	0.33957	1.01061259862	0.74754	0.512296557426	0.40543	T	0.103	0.51290	T	-0.258007	0.13134	T	-0.188938	0.55689	T	0.279984670019244	0.24171	T	0.883312	0.60567	D	0.59319025	0.72323	0.6231493	0.78040	0.59319025	0.72325	0.6231493	0.78041	-11.727	0.83497	D	.	.	0.222	0.48603	B	.;.;.;.;.	.;.;.;.;.	4.456122	0.69317	25.4	0.99738496537946264	0.83337	0.98961	0.89215	D	AEFDBI	0.735383	0.68122	D	0.754657953260534	0.83208	7.957497	0.721237978563622	0.83992	8.169375	0.99999999917722	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.37	5.37	0.76949	4.613000	0.60880	7.633000	0.62825	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.107	0.93284	283	0.88803	Domain of unknown function DUF4592;Domain of unknown function DUF4592;Domain of unknown function DUF4592;Domain of unknown function DUF4592;Domain of unknown function DUF4592	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1939.98	33	chr4	56313237	.	C	T	1939.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.226;DP=840;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.59;ReadPosRankSum=1.37;SOR=0.652	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1265	20	0	1	0
chr4	56314535	56314535	A	G	exonic	CRACD	.	nonsynonymous SNV	CRACD:NM_020722:exon8:c.A1033G:p.R345G,	.	.	356	1124	39	3	0	45	0.0196249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.96	D	0.643	P	.	.	1.000	N	0.695	N	4.52	T	-0.885	T	0.005	T	0.229	2.125	13.06	1.2	-0.012	0.488	8.674	0.050	.	0.0033	0.00678914	0.0128	0.0012	0.0152	0	0.02	0.0157	0.0147	0.0141	0.003758	581	154602	rs181288707	0.0101	0.0097	0.0100	0.0101	0.0316	0.0099	0.0099	0.0271	0.0254	0.0025	0.0093	0.0059	0	0.0023	0.0316	0.0112	0.0099	0.0071	0.0085	0.0085	0.0083	0.0087	0.0159	0.0081	0.0080	0.0142	0.0136	0.0023	0.0518	0.0159	0.0081	0	0.0013	0.0621	0.0114	0.0162	0.0077	0.012	0.54683	D	0.247	0.23984	T	0.96	0.55278	D	0.643	0.52216	P	.	.	.	.	1	0.08975	N	0.895	0.22405	L	4.52	0.01997	T	-2.69	0.58407	D	0.076	0.06990	-0.8846	0.49390	T	0.005	0.01506	T	9	0.004870236	0.00104	T	.	.	.	0.050	0.13987	.	.	0.193865811164	0.18958	0.04833071238415083	0.04776	0.351719312492	0.37009	0.401592552662	0.25290	T	0.013176	0.25379	T	-0.607411	0.00131	T	-0.634249	0.10094	T	0.0371497133714363	0.03182	T	0.513749	0.25428	T	0.15109834	0.34367	0.23682012	0.48963	0.15109834	0.34366	0.23682012	0.48962	-8.088	0.61669	D	.	.	0.164	0.48837	B	.;.;.;.;.	.;.;.;.;.	0.432212	0.08027	4.745	0.8199269451612442	0.13964	0.38591	0.26023	N	AEFDBCI	0.196794	0.32375	N	-0.471405951265528	0.23022	1.23333	-0.612543006750399	0.19170	1.027386	0.999877986188953	0.44625	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.97	1.2	0.20181	-1.893000	0.01700	-5.867000	0.01570	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7855:0.0:0.2145:0.0	8.674	0.33327	283	0.88803	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	626.11	17	chr4	56314535	.	A	G	626.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.456e+00;DP=510;ExcessHet=0.1072;FS=4.237;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.61;ReadPosRankSum=2.67;SOR=0.285	GT:AD:DP:GQ:PL	0/1:7,11:18:99:290,0,225	19	0	2	0
chr4	56378148	56378148	C	A	exonic	AASDH	.	nonsynonymous SNV	AASDH:NM_001286668:exon3:c.G368T:p.R123L	.	.	424	1095	3	0	0	3	0.00136799	0.9973	0.65	2822532	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.989	D	0.891	P	0.011	N	1.000	D	1.745	L	1.06	T	-0.912	T	0.173	T	0.535	2.946	15.82	1.16	0.107	0.551	13.021	0.243	0.0492750021301	0.0028	0.00119808	0.0027	9.664e-05	0.0005	0	0.0053	0.0039	0.0012	0.0017	0.0026649	412	154602	rs73240543	0.0038	0.0038	0.0039	0.0038	0.0044	0.0037	0.0037	0.0043	0.0042	0.0004	0.0004	3.991e-05	0	0.0054	0.0044	0.0044	0.0042	0.0013	0.0024	0.0023	0.0025	0.0022	0.0037	0.0022	0.0021	0.0033	0.0032	0.0005	0.0197	0.0003	0	0	0.0049	0	0.0037	0.0028	0.0010	0.007	0.68238	D	0.009	0.66756	D	0.959	0.62824	D	0.678	0.63213	P	0.011013	0.29696	N	0.344624	1	0.81001	D	2.02	0.55341	M	1.06	0.39781	T	-4.52	0.78302	D	0.572	0.59478	-0.9117	0.46645	T	0.173	0.51579	T	9	0.016572744	0.00350	T	0.049275	0.63741	D	0.243	0.54921	.	.	0.525205403968	0.52167	0.7784720199984064	0.77797	0.36845708657	0.38399	0.20993205905	0.00808	T	0.072765	0.35927	T	-0.400759	0.02289	T	-0.34652	0.39604	T	0.0453639667436107	0.04668	T	0.90311	0.66162	D	0.24539839	0.47498	0.27441525	0.53370	0.24539839	0.47498	0.27441525	0.53369	-11.702	0.85897	D	.	.	0.288	0.51985	B	.;.;.;.;.	.;.;.;.;.	3.313958	0.45546	22.1	0.98978681704468419	0.49680	0.93278	0.57791	D	AEFBI	0.641784	0.61899	D	-0.240262257991727	0.31494	1.766498	-0.293620820487855	0.28309	1.577459	0.694675189892409	0.22627	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.82	1.16	0.19936	0.601000	0.23818	-0.027000	0.12846	-1.682000	0.00784	0.993000	0.37899	0.716000	0.26323	0.203000	0.21983	0.0:0.6926:0.0:0.3074	13.021	0.58190	323	0.86843	AMP-dependent synthetase/ligase;.;.;AMP-dependent synthetase/ligase;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1616.98	33	chr4	56378148	.	C	A	1616.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.600e-01;DP=826;ExcessHet=0.0000;FS=2.489;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.06;ReadPosRankSum=1.37;SOR=0.460	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr4	56476680	56476680	G	A	exonic	SRP72	.	nonsynonymous SNV	SRP72:NM_001267722:exon6:c.G620A:p.R207H	Bone marrow failure syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	40335	not_provided|Autosomal_dominant_aplasia_and_myelodysplasia	MedGen:C3661900|MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675,Orphanet:314399	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.509	P	0.168	B	0.000	D	1.000	N	3.03	M	-1.07	T	0.492	D	0.828	D	0.806	1.673	11.55	5.28	2.477	7.534	14.406	0.680	0.117873569897	.	.	3.302e-05	0	0	0	0	3.004e-05	0.0022	0	2.59e-05	4	154602	rs387907189	2.192e-05	2.326e-05	2.181e-05	2.203e-05	4.649e-05	1.586e-05	1.358e-05	1.585e-05	1.227e-05	2.992e-05	4.49e-05	0	0	0	0	2.159e-05	1.658e-05	4.649e-05	3.942e-05	3.937e-05	5.141e-05	2.688e-05	9.63e-05	1.715e-05	1.129e-05	3.244e-05	1.911e-05	9.63e-05	0	0	0	0	0	0	2.941e-05	0	0	0.002	0.72154	D	0.005	0.74150	D	0.509	0.37289	P	0.051	0.25434	B	0.000000	0.84330	D	0.045615	0.999992	0.58761	D	2.09	0.57893	M	-3.42	0.94348	D	-3.7	0.70553	D	0.925	0.92901	0.492	0.90440	D	0.828	0.94221	D	10	0.7457602	0.75276	D	0.117874	0.79776	D	0.680	0.88252	.	.	0.915879114771	0.91503	0.4211507886134367	0.42031	0.355989253825	0.37353	0.468293309212	0.34446	T	0.253907	0.62449	T	0.233648	0.77063	D	0.279371	0.87092	D	0.339340006253446	0.26597	T	0.859314	0.63166	D	0.40712798	0.61223	0.3940971	0.64112	0.42941508	0.62714	0.32980445	0.58855	-7.492	0.57554	T	0.6498720031910183	0.72184	0.182	0.39511	B	.;.;.	.;.;.	4.354741	0.66921	25.0	0.99140040068806112	0.53518	0.98939	0.88905	D	AEFBI	0.879698	0.80583	D	0.371765926985898	0.59897	4.173136	0.39827899243769	0.61459	4.346217	0.999179337736757	0.38651	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.28	5.28	0.74118	7.735000	0.83874	9.908000	0.82404	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.668000	0.33194	0.0:0.0:1.0:0.0	14.406	0.66651	534	0.73357	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	930.98	39	chr4	56476680	.	G	A	930.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.543e+00;DP=755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.02;ReadPosRankSum=0.625;SOR=0.646	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr4	56486329	56486329	T	G	exonic	SRP72	.	nonsynonymous SNV	SRP72:NM_001267722:exon9:c.T908G:p.F303C	Bone marrow failure syndrome 1, Autosomal dominant	.	291	1228	3	0	0	3	0.00122001	.	.	2877906	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.999	D	0.956	D	0.000	D	1.000	D	1.91	M	1.2	T	-0.915	T	0.168	T	0.842	3.606	18.36	4.29	0.884	4.492	8.701	0.231	0.0391354439411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.02	0.61642	D	0.999	0.77913	D	0.956	0.69739	D	0.000002	0.62929	D	0.138728	1	0.81001	D	2.505	0.72935	M	1.2	0.37405	T	-4.67	0.79571	D	0.746	0.74553	-0.9147	0.46259	T	0.168	0.50697	T	10	0.6710621	0.70715	D	0.039135	0.58635	D	0.231	0.53208	0.475	0.55182	0.648095352874	0.64517	0.5288104087427561	0.52805	0.918765570636	0.71367	0.791393280029	0.80654	T	0.242373	0.61110	T	0.170903	0.71206	D	0.00771379	0.70834	D	0.995098054409027	0.86821	D	0.965003	0.87031	D	0.45226026	0.64184	0.25779724	0.51502	0.45226026	0.64185	0.25779724	0.51501	-8.992	0.67897	D	0.2656447897738771	0.35812	0.625	0.70394	P	.;.;.	.;.;.	4.028007	0.59538	24.1	0.99204865245010843	0.55412	0.98729	0.86106	D	AEFBI	0.696259	0.65466	D	0.460849591294881	0.64819	4.745496	0.443817502823094	0.64322	4.684586	0.998853541526757	0.37823	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.5	4.29	0.50359	4.300000	0.58876	4.437000	0.43372	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.1693:0.0:0.0:0.8306	8.701	0.33484	571	0.70397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1059.98	33	chr4	56486329	.	T	G	1059.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.141;DP=791;ExcessHet=0.0000;FS=3.570;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.72;ReadPosRankSum=-1.530e+00;SOR=1.046	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1199	20	0	1	0
chr4	56601061	56601061	A	C	exonic	THEGL	.	nonsynonymous SNV	THEGL:NM_001256475:exon8:c.A1235C:p.H412P,	.	.	422	1042	53	5	0	63	0.0293433	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00399361	0.0170	0	0.0109	0	.	0.0181	0	0.0176	0.0020569	318	154602	rs189562677	0.0058	0.0055	0.0052	0.0065	0.0194	0.0057	0.0057	0.0186	0.0183	0.0009	0.0022	0.0198	2.799e-05	0.0008	0.0183	0.0050	0.0073	0.0194	0.0040	0.0040	0.0040	0.0039	0.0164	0.0037	0.0036	0.0135	0.0124	0.0006	0.0011	0.0014	0.0196	0	0.0012	0.0136	0.0056	0.0057	0.0164	0.036	0.43393	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	2.015	0.55033	M	1.54	0.30133	T	-4.5	0.78135	D	0.172	0.18376	.	.	.	.	.	.	.	0.005950302	0.00133	T	.	.	.	.	.	.	.	.	.	0.4504680127375459	0.44964	.	.	0.425163269043	0.28547	T	0.043975	0.26670	T	-0.446262	0.01188	T	-0.398205	0.33593	T	.	.	.	0.419858	0.11135	T	0.41277054	0.61608	0.3506432	0.60670	0.41277054	0.61608	0.3506432	0.60669	-6.935	0.53558	T	.	.	0.371	0.57902	A	.	.	2.684197	0.35026	19.79	0.84540003119271534	0.15351	0.51585	0.28930	D	AEFBI	0.193064	0.32019	N	.	.	.	.	.	.	0.0167546444620353	0.12869	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	5.14	5.14	0.70008	2.789000	0.47504	4.571000	0.43881	0.750000	0.87069	0.767000	0.29322	0.995000	0.32472	0.005000	0.06747	1.0:0.0:0.0:0.0	11.264	0.48329	864	0.32732	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1828.98	34	chr4	56601061	.	A	C	1828.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=822;ExcessHet=0.0000;FS=1.441;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.07;ReadPosRankSum=-7.690e-01;SOR=0.558	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1168	20	0	1	0
chr4	56963503	56963503	G	A	exonic	NOA1	.	nonsynonymous SNV	NOA1:NM_032313:exon7:c.C2044T:p.P682S,	.	.	7	1495	17	3	0	23	0.00763359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.861	P	0.000	D	1.000	D	2.585	M	1.1	T	-0.540	T	0.211	T	0.246	3.875	19.69	5.41	2.681	5.124	19.159	0.163	.	0.0019	0.00379393	0.0031	0.0005	0.0025	0.0001	0.0005	0.0026	0	0.0099	0.0030918	478	154602	rs61747375	0.0037	0.0037	0.0035	0.0039	0.0093	0.0037	0.0036	0.0088	0.0086	0.0005	0.0031	0.0013	5.038e-05	0.0003	0.0023	0.0038	0.0034	0.0093	0.0024	0.0024	0.0026	0.0023	0.0085	0.0022	0.0021	0.0064	0.0057	0.0006	0.0252	0.0029	0.0009	0	0.0004	0.0034	0.0033	0.0024	0.0085	0.01	0.56456	D	0.02	0.58613	D	0.997	0.70673	D	0.861	0.61279	P	0.000132	0.49741	D	0.177605	1	0.81001	D	3.105	0.87672	M	1.1	0.39050	T	-2.96	0.61722	D	0.426	0.46555	-0.5400	0.67163	T	0.211	0.57134	T	10	0.0073290765	0.00167	T	.	.	.	0.163	0.42028	.	.	0.631970868704	0.62895	0.7423886184273022	0.74184	0.37369969626	0.38833	0.306570768356	0.11389	T	0.404834	0.76118	T	-0.408862	0.02022	T	-0.352116	0.38963	T	0.0540768489422514	0.06201	T	0.805919	0.45429	T	0.112257406	0.26521	0.17708229	0.40285	0.112257406	0.26520	0.17708229	0.40285	-5.863	0.45119	T	.	.	0.173	0.37858	B	.	.	4.088366	0.60867	24.3	0.99903686811470538	0.97502	0.97277	0.73745	D	AEFBI	0.464368	0.51289	N	0.639699020071097	0.75703	6.353225	0.56227660753155	0.72255	5.781155	0.999999997713301	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.41	5.41	0.78313	5.607000	0.67330	8.454000	0.77227	0.664000	0.56970	1.000000	0.71638	1.000000	0.68203	0.766000	0.36367	0.0:0.0:1.0:0.0	19.159	0.93507	853	0.34956	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	841.98	36	chr4	56963503	.	G	A	841.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.850e-01;DP=770;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.91;ReadPosRankSum=-4.320e-01;SOR=0.606	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1144	20	0	1	0
chr4	57110341	57110341	G	C	exonic	IGFBP7	.	nonsynonymous SNV	IGFBP7:NM_001253835:exon1:c.C11G:p.P4R	Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.207	B	0.135	B	0.420	N	0.935	N	0	N	1.17	T	-1.031	T	0.052	T	0.155	1.479	10.89	3.14	1.760	0.225	9.729	0.045	0.331772312011	.	.	.	.	.	.	.	.	.	.	.	.	.	rs896347160	9.77e-06	1.094e-05	9.584e-06	9.963e-06	3.752e-05	5.21e-06	4.12e-06	5.92e-06	4.33e-06	0	0	0	3.752e-05	0	0	1.103e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.0	0.92824	D	0.207	0.29891	B	0.135	0.33210	B	0.420302	0.12879	N	0.633028	0.934887	0.26958	N	0	0.06538	N	1.17	0.37910	T	-1.21	0.30762	N	0.093	0.08506	-1.0310	0.20131	T	0.052	0.21921	T	10	0.097117364	0.17469	T	0.331772	0.91771	D	0.045	0.12272	0.25	0.18757	0.265929055128	0.26215	0.6513117474938714	0.65067	0.448149957111	0.44654	0.812288403511	0.83843	D	0.024864	0.18706	T	-0.498102	0.00586	T	-0.56497	0.15912	T	0.0735557552729562	0.09141	T	0.471453	0.13989	T	0.18977407	0.40533	0.1740872	0.39779	0.18977407	0.40533	0.1740872	0.39778	-3.641	0.18452	T	.	.	0.063	0.01534	B	.;.	.;.	2.331096	0.29859	18.26	0.97204134685139687	0.32824	0.08232	0.14188	N	AEFDBHCIJ	0.276644	0.39134	N	-0.645046212690911	0.17604	0.9073113	-0.599036373857066	0.19518	1.047541	0.999999820446656	0.74766	0.56387	0.32371	0	0.475579	0.06741	0	0.503968	0.08637	0	0.56214	0.19341	0	.	.	4.01	3.14	0.35196	-0.257000	0.08765	2.553000	0.33274	0.497000	0.22564	0.000000	0.06391	0.283000	0.24120	0.331000	0.25224	0.1066:0.0:0.8934:0.0	9.729	0.39516	921	0.19240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.04762	383.56	10	chr4	57110341	.	G	C	383.56	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.733;DP=380;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.8906;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.19;ReadPosRankSum=0.066;SOR=0.804	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,587	20	1	0	0
chr4	64280080	64280080	T	G	exonic	TECRL	.	nonsynonymous SNV	TECRL:NM_001010874:exon12:c.A1084C:p.I362L,	Ventricular tachycardia, catecholaminergic polymorphic, 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.98	T	0.001	B	0.01	B	0.000	D	1.000	N	0.275	N	1.48	T	-0.993	T	0.028	T	0.23	-1.227	0.060	1.17	0.033	0.522	3.461	0.057	0.00449581025668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	0.02671	T	0.817	0.03863	T	0.001	0.07471	B	0.01	0.14941	B	0.000099	0.51296	D	0.166576	0.999931	0.51612	D	0.58	0.15352	N	1.48	0.31731	T	-0.02	0.07299	N	0.247	0.27910	-0.9933	0.31749	T	0.028	0.11971	T	10	0.11408955	0.21454	T	0.004496	0.11031	T	0.057	0.16321	0.566	0.68768	0.163833314356	0.15978	0.4406120558300872	0.43978	0.013703828924	0.01312	0.632058918476	0.57437	T	0.144335	0.48091	T	-0.234878	0.16008	T	-0.575163	0.14980	T	0.0658993777362252	0.08064	T	0.39686	0.10010	T	0.0642043	0.13597	0.05133139	0.08240	0.0642043	0.13596	0.05133139	0.08239	-3.718	0.19584	T	0.09668303696673697	0.06719	0.067	0.02488	B	.	.	0.477201	0.08466	5.226	0.26949164658168973	0.01315	0.75193	0.36805	D	AEFI	0.190816	0.31804	N	-0.895672893606641	0.10945	0.5256045	-0.785676238295269	0.14846	0.7778514	1.32774891396336E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.09	1.17	0.19998	0.766000	0.26225	.	.	0.663000	0.56723	0.878000	0.30948	0.901000	0.27973	0.524000	0.29567	0.166:0.1855:0.0:0.6485	3.461	0.07098	968	0.07033	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	735.98	36	chr4	64280080	.	T	G	735.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.383;DP=750;ExcessHet=0.0000;FS=0.972;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=-5.560e-01;SOR=0.554	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1025	20	0	1	0
chr4	67754019	67754019	T	C	exonic	GNRHR	.	nonsynonymous SNV	GNRHR:NM_000406:exon1:c.A317G:p.Q106R	Hypogonadotropic hypogonadism 7 without anosmia, Autosomal recessive	YES	0	1506	16	0	0	16	0.00528402	.	.	31062	GNRHR-related_disorder|Gonadotropin_deficiency|Hypogonadotropic_hypogonadism|Inborn_genetic_diseases|Infertility_disorder|Hypogonadotropic_hypogonadism_7_with_or_without_anosmia|Isolated_congenital_hypogonadotropic_hypogonadism|not_provided	.|Human_Phenotype_Ontology:HP:0008213,MedGen:C4552011,Orphanet:181387|Human_Phenotype_Ontology:HP:0000044,Human_Phenotype_Ontology:HP:0003335,Human_Phenotype_Ontology:HP:0008224,MONDO:MONDO:0018555,MedGen:C0271623,OMIM:PS147950,Orphanet:432|MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0000789,MONDO:MONDO:0005047,MedGen:C0021359|MONDO:MONDO:0007794,MedGen:C0342384,OMIM:146110,Orphanet:432|MONDO:MONDO:0016553,MedGen:C5679849,Orphanet:238666|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.18	T	0.997	D	0.992	D	0.000	D	1.000	A	1.055	L	-0.54	T	-0.320	T	0.323	T	0.955	2.437	14.11	6.17	2.371	7.775	14.774	0.606	0.0502223929218	0.0025	0.00119808	0.0025	0.0005	0.0009	0	0.0018	0.0040	0.0022	0.0007	0.0028137	435	154602	rs104893836	0.0037	0.0037	0.0037	0.0036	0.0054	0.0036	0.0035	0.0041	0.0041	0.0006	0.0025	0.0060	5.038e-05	0.0019	0.0054	0.0042	0.0029	0.0008	0.0023	0.0023	0.0025	0.0022	0.0035	0.0021	0.0021	0.0032	0.0030	0.0005	0	0.0029	0.0078	0	0.0012	0.0034	0.0035	0.0019	0.0008	0.001	0.78490	D	0.059	0.61642	T	0.997	0.70673	D	0.992	0.80445	D	0.000008	0.62929	D	0.000000	0.999894	0.50595	A	1.28	0.32218	L	-0.54	0.70950	T	-3.66	0.72120	D	0.871	0.86833	-0.3199	0.74424	T	0.323	0.69160	T	9	0.02444002	0.00672	T	0.050222	0.64151	D	0.606	0.84506	.	.	0.865565913474	0.86426	0.6508790891331032	0.65023	0.349769851821	0.36824	0.576106905937	0.49537	T	0.712316	0.91804	D	0.00964354	0.52975	T	0.246203	0.85441	D	0.0515199182516294	0.05765	T	0.772023	0.50934	T	0.78127015	0.82732	0.73259306	0.84197	0.75044835	0.80896	0.7223215	0.83603	-11.423	0.84384	D	0.2930875649712104	0.38984	0.359	0.57129	A	.;.	.;.	4.030639	0.59597	24.1	0.99576257528734025	0.72742	0.97816	0.77344	D	AEFGI	0.923474	0.90001	D	0.453357316500366	0.64394	4.692888	0.423272155502814	0.63018	4.527529	0.999999996378592	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.17	6.17	0.99707	7.946000	0.87231	7.865000	0.71651	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.670000	0.33251	0.0:0.0:0.0:1.0	14.774	0.69335	930	0.16408	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2173.98	33	chr4	67754019	.	T	C	2173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.983e+00;DP=901;ExcessHet=0.0000;FS=6.210;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=0.811;SOR=0.469	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr4	67931993	67931993	G	A	exonic	TMPRSS11A	.	nonsynonymous SNV	TMPRSS11A:NM_001114387:exon4:c.C320T:p.T107I	.	.	429	1088	5	0	0	5	0.00229253	0.0175	0.194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	B	0.101	B	0.000	D	0.798	D	2.2	M	1.05	T	-0.909	T	0.106	T	0.323	2.298	13.64	4.37	0.903	1.525	9.472	0.127	0.0182138175605	7.7e-05	.	0.0005	0	0.0002	0	0	7.509e-05	0.0022	0.0030	0.0003881	60	154602	rs151094571	0.0003	0.0003	0.0002	0.0004	0.0031	0.0003	0.0002	0.0028	0.0027	0	8.969e-05	0	2.527e-05	1.878e-05	0.0007	0.0001	0.0001	0.0031	0.0002	0.0002	0.0002	0.0003	0.0021	0.0002	0.0001	0.0011	0.0009	4.819e-05	0.0121	0	0	0	9.47e-05	0	0.0002	0	0.0021	0.054	0.38633	T	0.053	0.48080	T	.	.	.	.	.	.	0.000018	0.62929	D	0.000000	0.798486	0.34479	D	.	.	.	1.05	0.39990	T	-3.01	0.64478	D	0.47	0.50598	-0.9094	0.46928	T	0.106	0.38636	T	9	0.012391746	0.00266	T	0.018214	0.40197	T	0.127	0.34888	.	.	0.431712495121	0.42787	0.3987622539140241	0.39791	0.128422897595	0.14478	0.491270422935	0.37615	T	.	.	.	-0.460983	0.00969	T	-0.438311	0.28997	T	0.126962312563578	0.15098	T	0.525248	0.17252	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.21201	B	.;.;.	.;.;.	2.358701	0.30252	18.38	0.9958055083326286	0.72980	0.70469	0.34603	D	AEFBI	0.194504	0.32159	N	0.0800884749148915	0.45534	2.808366	0.165303739972639	0.47958	3.018427	0.634030320901188	0.21994	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.08	4.37	0.51830	1.616000	0.36543	0.628000	0.20199	-0.105000	0.15698	1.000000	0.71638	0.997000	0.33255	0.919000	0.45453	0.1625:0.0:0.8375:0.0	9.472	0.38009	797	0.45241	.;SEA domain|SEA domain;SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1267.98	33	chr4	67931993	.	G	A	1267.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.590;DP=773;ExcessHet=0.0000;FS=1.752;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.41;ReadPosRankSum=1.33;SOR=0.587	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1237	20	0	1	0
chr4	68064747	68064747	G	A	exonic	TMPRSS11F	.	nonsynonymous SNV	TMPRSS11F:NM_207407:exon8:c.C953T:p.S318F,	.	.	433	1072	17	0	0	17	0.00786673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.919	P	0.407	B	0.004	N	0.992	D	0.835	L	-2.55	D	-0.007	T	0.429	T	0.13	2.642	14.79	4.0	1.488	1.369	12.357	0.374	.	0.0082	0.00259585	0.0086	0.0013	0.0022	0	0.0089	0.0136	0.0055	0.0024	0.0085445	1321	154602	rs143544573	0.0088	0.0088	0.0088	0.0088	0.0104	0.0087	0.0086	0.0102	0.0102	0.0012	0.0028	0.0039	5.04e-05	0.0076	0.0071	0.0104	0.0072	0.0018	0.0069	0.0069	0.0071	0.0067	0.0113	0.0065	0.0064	0.0107	0.0104	0.0016	0	0.0056	0.0035	0.0002	0.0076	0	0.0113	0.0104	0.0014	0.001	0.78490	D	0.002	0.79402	D	0.919	0.50927	P	0.407	0.44712	B	0.003800	0.34487	N	0.207319	0.992056	0.41543	D	1.565	0.39561	L	-2.55	0.89561	D	-4.65	0.79399	D	0.247	0.27910	-0.0072	0.82107	T	0.429	0.77120	T	10	0.0052728355	0.00115	T	.	.	.	0.374	0.69273	.	.	0.860412130432	0.85906	0.6030460757054907	0.60235	0.0744376115572	0.08353	0.428454965353	0.28998	T	0.344002	0.71257	T	-0.38425	0.02928	T	-0.311099	0.43541	T	0.059439575268213	0.07080	T	0.727827	0.34232	T	0.44317266	0.63607	0.4944546	0.70761	0.44317266	0.63607	0.4944546	0.70762	-7.215	0.55589	T	.	.	0.120	0.24666	B	.	.	1.890388	0.24013	16.24	0.99747241083990501	0.84002	0.76726	0.37653	D	AEFI	0.169536	0.29637	N	0.156847973713837	0.49137	3.117465	0.204558714955639	0.50100	3.205632	1.28248467279848E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.92	4.0	0.45673	1.089000	0.30501	.	.	0.676000	0.76740	0.308000	0.25396	0.972000	0.29809	0.913000	0.44837	0.0:0.0:0.6819:0.3181	12.357	0.54509	931	0.16308	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2399.11	38	chr4	68064747	.	G	A	2399.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.555;DP=884;ExcessHet=0.1072;FS=0.515;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=0.493;SOR=0.618	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1209	19	0	2	0
chr4	68068744	68068744	C	T	exonic	TMPRSS11F	.	nonsynonymous SNV	TMPRSS11F:NM_207407:exon7:c.G629A:p.R210K,	.	.	340	1171	11	0	0	11	0.00467488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.047	B	0.061	B	0.004	N	1.000	N	-0.655	N	-2.36	D	-0.814	T	0.210	T	0.312	-0.320	2.478	3.1	0.807	0.138	3.419	0.181	.	0.0011	0.00359425	0.0028	0	0.0002	0	0	0.0019	0.0044	0.0123	0.0026002	402	154602	rs146652094	0.0026	0.0026	0.0023	0.0028	0.0118	0.0025	0.0025	0.0112	0.0109	0.0002	0.0002	3.826e-05	2.519e-05	0.0003	0.0033	0.0023	0.0023	0.0118	0.0016	0.0016	0.0016	0.0016	0.0101	0.0014	0.0014	0.0079	0.0071	0.0004	0.0121	0.0003	0	0	0.0002	0	0.0023	0.0014	0.0101	0.972	0.02043	T	0.36	0.16964	T	0.047	0.21998	B	0.061	0.26820	B	0.003580	0.34767	N	0.197117	1	0.08975	N	0.46	0.12951	N	-2.36	0.88143	D	-0.43	0.14390	N	0.232	0.26111	-0.8141	0.54300	T	0.210	0.57041	T	10	0.005112022	0.00111	T	.	.	.	0.181	0.45247	.	.	0.617224619168	0.61412	0.560962303913896	0.56023	0.123739431826	0.13926	0.320051193237	0.13429	T	0.117911	0.43834	T	-0.361966	0.04020	T	-0.281685	0.46630	T	0.00811350242353398	0.00097	T	0.30297	0.05734	T	0.066040516	0.14171	0.05269963	0.08732	0.066040516	0.14170	0.05269963	0.08731	-3.159	0.11986	T	.	.	0.073	0.04558	B	.	.	1.184490	0.15755	12.08	0.58894590845279449	0.06098	0.04668	0.10345	N	AEFDI	0.093650	0.18946	N	-0.85174137210942	0.12007	0.5827035	-0.687720839081708	0.17268	0.9173849	0.0704932711147111	0.15530	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.82	3.1	0.34780	0.974000	0.29033	.	.	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.932000	0.46971	0.1526:0.5352:0.2178:0.0944	3.419	0.06960	922	0.19044	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1320.98	34	chr4	68068744	.	C	T	1320.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.167;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.91;ReadPosRankSum=-4.500e-02;SOR=0.650	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr4	68476303	68476303	G	A	exonic	TMPRSS11E	.	nonsynonymous SNV	TMPRSS11E:NM_014058:exon7:c.G572A:p.R191K,	.	.	432	1073	16	1	0	18	0.00831793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.856	P	0.388	B	0.000	D	0.735	N	0	N	-0.01	T	-0.999	T	0.026	T	0.61	1.882	12.25	4.71	1.329	5.569	13.582	0.317	.	0.0015	0.0191693	0.0099	0.0034	0.0025	0.0350	0.0192	0.0022	0.0132	0.0332	0.0089326	1381	154602	rs138883861	0.0048	0.0048	0.0040	0.0056	0.0541	0.0047	0.0047	0.0522	0.0514	0.0027	0.0024	0.0001	0.0541	0.0187	0.0030	0.0004	0.0072	0.0318	0.0051	0.0051	0.0036	0.0067	0.0434	0.0048	0.0047	0.0388	0.0370	0.0030	0	0.0014	0	0.0434	0.0166	0	0.0008	0.0043	0.0362	0.214	0.19361	T	0.225	0.25514	T	0.856	0.47190	P	0.388	0.44086	B	0.000140	0.49741	D	0.000000	0.734502	0.29796	N	0	0.06538	N	-0.01	0.62762	T	-2.1	0.47852	N	0.801	0.79696	-0.9988	0.30255	T	0.026	0.11220	T	10	0.009520739	0.00215	T	.	.	.	0.317	0.63904	.	.	0.814305628724	0.81256	0.8757017065038365	0.87537	0.347502600648	0.36640	0.473449975252	0.35155	T	0.241795	0.61040	T	-0.367462	0.03724	T	-0.244723	0.50336	T	0.0446611687074535	0.04540	T	0.692831	0.30243	T	0.22197078	0.44786	0.2519904	0.50820	0.22197078	0.44786	0.2519904	0.50819	-5.974	0.46062	T	.	.	0.253	0.48746	B	.	.	2.265371	0.28947	17.96	0.9759299570249157	0.34803	0.93170	0.57508	D	AEFDIJ	0.687624	0.64890	D	-0.000828758884280856	0.41818	2.508163	0.0516300828608658	0.42151	2.544544	0.957410023018017	0.28302	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.56	4.71	0.59010	7.072000	0.76466	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.001000	0.02609	0.0:0.0:0.8432:0.1568	13.582	0.61376	759	0.50631	Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3134.98	33	chr4	68476303	.	G	A	3134.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.040;DP=933;ExcessHet=0.0000;FS=1.077;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=1.55;SOR=0.597	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1270	20	0	1	0
chr4	68567787	68567787	C	G	exonic	UGT2B17	.	nonsynonymous SNV	UGT2B17:NM_001077:exon2:c.G698C:p.W233S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	0.159	U	1.000	N	2.455	M	0.09	T	-0.725	T	0.287	T	0.428	1.533	11.08	2.66	1.516	2.050	11.121	0.290	0.00372444849759	0.0018	.	0.0008	0.0004	0.0002	0	0.0006	0.0012	0	0	0.0005627	87	154602	rs148958723	0.0006	0.0006	0.0006	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	3.386e-05	0.0004	9.432e-05	0	0.0005	0	0.0007	0.0007	0	0.0007	0.0007	0.0007	0.0008	0.0012	0.0006	0.0005	0.0009	0.0009	0.0001	0	0.0010	0	0	0.0005	0	0.0012	0	0	0.0	0.91255	D	0.022	0.57587	D	.	.	.	.	.	.	0.158603	0.17735	U	0.478331	0.999997	0.08975	N	3.02	0.86243	M	0.09	0.61443	T	-13.27	0.99915	D	0.396	0.43706	-0.7246	0.59234	T	0.287	0.65909	T	8	0.19285858	0.35032	T	0.003724	0.08620	T	0.290	0.60924	.	.	0.442054744378	0.43824	0.5425100954765099	0.54176	0.568803844307	0.53079	0.433032393456	0.29623	T	0.185821	0.53891	T	-0.00863776	0.50457	T	-0.250184	0.49799	T	0.426961064338684	0.29948	T	0.775622	0.40735	T	0.5198194	0.68249	0.62725055	0.78267	0.5198194	0.68250	0.62725055	0.78268	-10.897	0.79090	D	.	.	0.808	0.77645	P	.	.	4.069473	0.60449	24.2	0.88787150381572633	0.18254	0.51801	0.28981	D	AEFGI	0.166400	0.29298	N	-0.119215824126853	0.36556	2.114645	-0.276571421792451	0.28871	1.613162	1.13411964937834E-4	0.05269	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.66	2.66	0.30672	3.263000	0.51248	.	.	0.481000	0.22134	0.979000	0.35152	1.000000	0.68203	0.020000	0.11549	0.0:1.0:0.0:0.0	11.121	0.47509	564	0.70960	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03333	3616.55	832	chr4	68567787	.	C	G	3616.55	.	AC=1;AF=0.033;AN=30;BaseQRankSum=0.719;DP=832;ExcessHet=0.0000;FS=0.847;InbreedingCoeff=-0.0345;MLEAC=1;MLEAF=0.033;MQ=59.97;MQRankSum=0.928;QD=11.23;ReadPosRankSum=-1.115e+00;SOR=0.765	GT:AD:DP:GQ:PL	./.	14	0	1	6
chr4	68647370	68647370	C	T	exonic	UGT2B15	.	nonsynonymous SNV	UGT2B15:NM_001076:exon6:c.G1327A:p.V443I,	.	.	2	1506	14	0	0	14	0.00462657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.98	T	0.0	B	0.0	B	0.416	N	1.000	N	0.87	L	0.03	T	-1.004	T	0.117	T	0.176	-1.655	0.012	2.11	0.448	-0.438	7.697	0.118	0.00611392601341	0.0006	0.000399361	0.0005	0	0.0003	0	0	0.0007	0.0022	0.0003	0.0004528	70	154602	rs138592773	0.0004	0.0004	0.0004	0.0004	0.0129	0.0004	0.0004	0.0105	0.0096	0.0002	0.0007	0.0039	0	0	0.0129	0.0003	0.0011	0.0003	0.0004	0.0004	0.0004	0.0003	0.0004	0.0003	0.0003	0.0003	0.0002	0.0001	0	0.0002	0.0043	0	0	0.0034	0.0004	0.0014	0	0.345	0.12511	T	0.775	0.04402	T	0.0	0.02946	B	0.0	0.01387	B	0.415921	0.12934	N	0.675279	0.999997	0.08975	N	-0.23	0.03940	N	0.03	0.62183	T	-0.89	0.24026	N	0.085	0.06190	-1.0042	0.28696	T	0.117	0.41253	T	10	0.0070631504	0.00161	T	0.006114	0.15993	T	0.118	0.32913	.	.	0.258283824007	0.25425	0.07614621897107073	0.07550	0.0180437409846	0.01760	0.248619198799	0.03624	T	0.011913	0.10560	T	-0.482896	0.00712	T	-0.559159	0.16457	T	0.00891369008388993	0.00111	T	0.585341	0.21331	T	0.08366342	0.19330	0.0486009	0.07254	0.08366342	0.19329	0.0486009	0.07254	-2.633	0.06758	T	.	.	0.106	0.19478	B	.	.	0.208088	0.05921	2.360	0.14492955580601063	0.00322	0.05700	0.11621	N	AEFGI	0.184231	0.31156	N	-1.07670622988102	0.07074	0.327575	-1.07925495378616	0.08110	0.3972948	1.09038223899078E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.96	2.11	0.26299	-0.892000	0.04239	.	.	-0.207000	0.08511	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.8673:0.0:0.1327	7.697	0.27766	828	0.39726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2494.98	39	chr4	68647370	.	C	T	2494.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.523e+00;DP=986;ExcessHet=0.0000;FS=3.120;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.88;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-2.291e+00;SOR=0.510	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr4	68945392	68945392	A	C	exonic	UGT2A3	.	nonsynonymous SNV	UGT2A3:NM_024743:exon2:c.T778G:p.W260G,	.	.	1	1406	110	5	0	120	0.0409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.977	D	0.000	D	1.000	D	3.515	H	0.11	T	-0.005	T	0.447	T	0.662	2.807	15.35	3.23	1.465	5.405	9.770	0.429	.	0.0028	0.00698882	0.0073	0.0005	0.0013	0	0	0.0036	0.0145	0.0372	0.00641	991	154602	rs62641705	0.0041	0.0041	0.0028	0.0053	0.0384	0.0040	0.0039	0.0373	0.0369	0.0003	0.0010	0.0215	7.576e-05	5.629e-05	0.0172	0.0014	0.0057	0.0384	0.0030	0.0030	0.0030	0.0030	0.0359	0.0027	0.0027	0.0315	0.0298	0.0002	0	0.0015	0.0239	0.0002	0.0003	0.0102	0.0022	0.0033	0.0359	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.986033	0.81001	D	3.65	0.94181	H	0.11	0.61208	T	-12.01	0.99630	D	0.741	0.74098	-0.0049	0.82155	T	0.447	0.78252	T	10	0.012360334	0.00266	T	.	.	.	0.429	0.73590	.	.	0.758552508207	0.75635	0.49207756518636214	0.49128	0.0192299428785	0.01881	0.445290029049	0.31300	T	0.210524	0.57104	T	-0.218644	0.18177	T	-0.0596829	0.66354	T	0.126290748303984	0.15035	T	.	.	.	0.91043717	0.92336	0.72808266	0.83935	0.91043717	0.92337	0.72808266	0.83936	-10.86	0.78884	D	.	.	0.635	0.70300	P	.	.	3.289622	0.45108	22.1	0.97635165120610046	0.35046	0.95821	0.66297	D	AEFBI	0.805579	0.73012	D	0.596173627938472	0.72934	5.884708	0.424873680903011	0.63117	4.539405	0.998945740685995	0.38034	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.23	3.23	0.36150	5.361000	0.65845	.	.	0.572000	0.28966	1.000000	0.71638	1.000000	0.68203	0.008000	0.08271	1.0:0.0:0.0:0.0	9.770	0.39750	644	0.63734	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.09524	3725.92	38	chr4	68945392	.	A	C	3725.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.18;DP=994;ExcessHet=0.6776;FS=0.758;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=9.31;ReadPosRankSum=0.591;SOR=0.746	GT:AD:DP:GQ:PL	0/1:63,54:117:99:1149,0,1458	17	0	4	0
chr4	69018306	69018306	T	G	exonic	UGT2B10	.	nonsynonymous SNV	UGT2B10:NM_001290091:exon3:c.A56C:p.H19P,	.	.	425	1077	20	0	0	20	0.00919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0023	9.812e-05	0.0003	0	0	0.0015	0.0022	0.0100	0.0019922	308	154602	rs200086061	0.0012	0.0012	0.0009	0.0015	0.0100	0.0011	0.0011	0.0094	0.0092	5.986e-05	0.0002	0.0192	0	0	0.0033	0.0002	0.0023	0.0100	0.0010	0.0010	0.0011	0.0009	0.0081	0.0009	0.0008	0.0061	0.0054	7.218e-05	0	0.0004	0.0219	0	0	0	0.0003	0.0014	0.0081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	6689.11	40	chr4	69018306	.	T	G	6689.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.22;DP=1256;ExcessHet=0.1072;FS=0.519;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.93;MQRankSum=0.562;QD=11.51;ReadPosRankSum=0.158;SOR=0.761	GT:AD:DP:GQ:PL	0/1:150,135:285:99:3219,0,3615	19	0	2	0
chr4	69020087	69020087	T	C	exonic;splicing	UGT2B10;UGT2B10	NM_001075:exon2:c.263+2A>G;NM_001144767:exon2:c.263+2A>G	unknown	UNKNOWN,	.	.	428	1082	11	0	1	12	0.00505747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0005	0.0002	0	0.0001	0	6.251e-05	0.0045	0.0029	0.0001153	3	26028	rs374850441	0.0003	0.0003	0.0002	0.0004	0.0028	0.0002	0.0002	0.0025	0.0024	0.0001	4.488e-05	0	2.534e-05	1.877e-05	0.0005	7.936e-05	0.0004	0.0028	0.0001	0.0001	9.317e-05	0.0002	0.0023	9.933e-05	8.419e-05	0.0013	0.0010	0.0002	0	0	0	0	0	0	6.078e-05	0	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3099.98	42	chr4	69020087	.	T	C	3099.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.800e-02;DP=1181;ExcessHet=0.0000;FS=3.562;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=1.56;SOR=0.930	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1244	20	0	1	0
chr4	69107190	69107190	G	C	exonic	UGT2B7	.	nonsynonymous SNV	UGT2B7:NM_001074:exon4:c.G1018C:p.D340H	.	.	451	1070	1	0	0	1	0.000467071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.988	D	0.928	D	0.020	U	0.995	N	2.37	M	0.12	T	-0.753	T	0.330	T	0.146	1.812	12.02	1.14	0.559	1.056	4.501	0.125	0.00979825427496	.	0.000599042	0.0003	0	0.0002	0	0	7.498e-05	0.0022	0.0018	0.0002781	43	154602	rs569519019	0.0002	0.0002	9.837e-05	0.0002	0.0020	0.0001	0.0001	0.0018	0.0017	0	2.265e-05	0	0	0	0.0007	4.148e-05	0.0002	0.0020	7.885e-05	7.875e-05	6.427e-05	9.409e-05	0.0017	4.497e-05	3.512e-05	0.0008	0.0006	0	0	0	0	0	0	0	5.883e-05	0	0.0017	0.024	0.53900	D	0.083	0.48855	T	0.067	0.62325	B	0.028	0.66279	B	0.019897	0.27158	U	0.333380	0.995139	0.23364	N	2.825	0.82220	M	0.12	0.62318	T	-3.99	0.73893	D	0.307	0.38541	-0.7532	0.57768	T	0.330	0.69758	T	9	0.030247599	0.01151	T	0.009798	0.25563	T	0.125	0.34456	0.565	0.68633	0.250039746154	0.24611	0.30195788580799326	0.30108	0.100278492739	0.11331	0.404002577066	0.25626	T	0.418577	0.77087	T	-0.44293	0.01243	T	-0.422245	0.30818	T	0.183908380198549	0.19478	T	0.535046	0.24680	T	0.2869687	0.51709	0.24282393	0.49712	0.2869687	0.51709	0.24282393	0.49711	-8.659	0.65478	D	.	.	0.226	0.45847	B	.;.;.	.;.;.	2.138755	0.27230	17.39	0.99209691328429361	0.55533	0.59278	0.30871	D	AEFI	0.764126	0.70102	D	-0.270146558331409	0.30306	1.688631	-0.343704543306464	0.26704	1.47676	0.0153704420608047	0.12705	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.93	1.14	0.19817	0.834000	0.27171	.	.	0.368000	0.20244	0.165000	0.23867	0.000000	0.08366	0.532000	0.29753	0.4363:0.0:0.5637:0.0	4.501	0.11275	679	0.60090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1892.98	56	chr4	69107190	.	G	C	1892.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.919;DP=1086;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.61;ReadPosRankSum=1.45;SOR=0.706	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	20	0	1	0
chr4	69214601	69214601	G	T	exonic	UGT2B11	.	nonsynonymous SNV	UGT2B11:NM_001073:exon1:c.C122A:p.T41K,	.	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.02	B	0.071	B	0.049	U	1.000	N	1.37	L	0.14	T	-1.030	T	0.115	T	0.225	-1.088	0.154	1.02	0.131	-0.675	3.995	0.046	.	.	0.00199681	0.0009	0	0	0	0	1.5e-05	0	0.0064	0.0007503	116	154602	rs536264814	0.0003	0.0003	0.0002	0.0005	0.0056	0.0003	0.0003	0.0052	0.0050	0	0	0	0	0	0.0002	2.699e-06	0.0003	0.0056	0.0003	0.0003	0.0002	0.0004	0.0081	0.0002	0.0002	0.0061	0.0054	2.408e-05	0	0	0	0	0	0	0	0	0.0081	0.069	0.35537	T	0.553	0.09329	T	0.02	0.18235	B	0.071	0.27960	B	0.048528	0.23243	U	0.343302	1	0.08975	N	2.085	0.57729	M	0.14	0.60854	T	-3.49	0.68056	D	0.147	0.14905	-1.0300	0.20454	T	0.115	0.40831	T	10	0.010556012	0.00234	T	.	.	.	0.046	0.12618	.	.	0.500113493057	0.49646	0.18687939628225586	0.18605	0.0643857280339	0.07174	0.396722584963	0.24612	T	0.021986	0.17030	T	-0.513293	0.00481	T	-0.506919	0.21632	T	0.0407751439886418	0.03831	T	0.689031	0.29821	T	0.23873067	0.46754	0.3228257	0.58220	0.23873067	0.46754	0.3228257	0.58219	-8.001	0.61077	D	.	.	0.243	0.47697	B	.	.	1.166856	0.15563	11.94	0.71820518029952085	0.09760	0.02699	0.07344	N	AEFI	0.087525	0.17747	N	-1.09274235343558	0.06776	0.3129011	-1.17806392294003	0.06278	0.3016654	1.56304191367909E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.96	1.02	0.19102	-1.552000	0.02280	.	.	0.603000	0.45986	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.4377:0.0:0.5623:0.0	3.995	0.09043	550	0.72197	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	5004.98	42	chr4	69214601	.	G	T	5004.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.115;DP=1162;ExcessHet=0.0000;FS=1.221;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.52;MQRankSum=-7.220e-01;QD=13.49;ReadPosRankSum=0.272;SOR=0.613	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1381	20	0	1	0
chr4	69842016	69842016	A	C	exonic	SULT1E1	.	nonsynonymous SNV	SULT1E1:NM_005420:exon8:c.T863G:p.L288R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.002	N	1.000	N	3.495	M	4.41	T	-1.076	T	0.040	T	0.778	3.104	16.37	4.23	1.904	7.364	11.617	0.212	0.0047219538079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.375e-06	1.368e-06	2.735e-06	0	0.0003	2.3e-07	9e-08	6.107e-05	2.527e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.002350	0.36727	N	0.117626	0.999999	0.08975	N	3.3	0.90472	M	4.41	0.02196	T	-5.49	0.85765	D	0.792	0.78832	-1.0764	0.08063	T	0.040	0.17319	T	10	0.8882585	0.88160	D	0.004722	0.11753	T	0.212	0.50341	0.594	0.72371	0.387689773709	0.38380	0.8907127399943588	0.89041	0.660683800646	0.58883	0.379432141781	0.22176	T	0.802549	0.94981	D	0.0848565	0.62605	D	-0.115886	0.62138	T	0.967458009719849	0.67914	D	0.920308	0.71149	D	0.8168399	0.85008	0.65578926	0.79846	0.8168399	0.85009	0.65578926	0.79847	-10.296	0.75665	D	.	.	0.634	0.70263	P	.	.	4.063040	0.60307	24.2	0.99575268976395659	0.72682	0.95328	0.64293	D	AEFI	0.726199	0.67494	D	0.488636950981953	0.66425	4.948462	0.261578746361498	0.53310	3.500621	0.999956781891744	0.48110	0.554377	0.28877	0	0.547309	0.14657	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	4.23	4.23	0.49319	7.939000	0.87144	.	.	0.691000	0.84096	0.881000	0.31008	1.000000	0.68203	0.738000	0.35369	1.0:0.0:0.0:0.0	11.617	0.50350	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	673.98	36	chr4	69842016	.	A	C	673.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.672;DP=799;ExcessHet=0.0000;FS=2.846;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.02;ReadPosRankSum=-1.945e+00;SOR=1.054	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1097	20	0	1	0
chr4	69849488	69849488	G	C	exonic	SULT1E1	.	nonsynonymous SNV	SULT1E1:NM_005420:exon5:c.C445G:p.P149A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.99	D	0.000	D	1.000	D	2.585	M	4.5	T	-1.163	T	0.029	T	0.453	2.377	13.91	2.93	1.162	6.079	10.867	0.193	0.0131373881031	.	0.000798722	0.0004	0	0	0.0035	0	0	0	0.0008	0.000304	47	154602	rs201072711	9.797e-05	9.783e-05	9.543e-05	0.0001	0.0009	8.456e-05	7.933e-05	0.0007	0.0007	2.995e-05	0	0	0.0009	0	0	1.801e-06	0.0004	0.0009	0.0002	0.0002	0.0002	0.0002	0.0031	0.0001	0.0001	0.0019	0.0016	4.818e-05	0	0	0	0.0031	0	0	0	0.0005	0.0017	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.99	0.78936	D	0.000008	0.62929	D	0.000000	0.999758	0.48800	D	2.56	0.74772	M	4.5	0.02032	T	-7.66	0.95511	D	0.414	0.45426	-1.1633	0.00680	T	0.029	0.12278	T	10	0.020682633	0.00481	T	0.013137	0.32307	T	0.193	0.47281	.	.	0.39619538035	0.39233	0.38764159274352417	0.38679	0.545111410704	0.51550	0.423236250877	0.28281	T	0.776179	0.94050	D	-0.41072	0.01966	T	-0.368295	0.37088	T	0.262163618598239	0.23409	T	0.671533	0.28021	T	0.8186462	0.85129	0.6211235	0.77927	0.8186462	0.85130	0.6211235	0.77928	-8.403	0.63785	D	.	.	0.261	0.49606	B	.	.	4.019595	0.59363	24.1	0.99151870470984527	0.53848	0.96038	0.67252	D	AEFDGBIJ	0.576458	0.57844	D	0.490731577995309	0.66546	4.964323	0.335662405669005	0.57649	3.931366	0.995972194732428	0.34444	0.487112	0.14033	0	0.491513	0.07743	0	0.573888	0.23631	0	0.649648	0.60094	0	.	.	3.78	2.93	0.33092	6.251000	0.72393	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.593000	0.31214	0.0:0.0:0.8103:0.1897	10.867	0.46069	940	0.13648	Sulfotransferase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	881.98	33	chr4	69849488	.	G	C	881.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.885;DP=754;ExcessHet=0.0000;FS=1.926;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=-1.363e+00;SOR=0.534	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1033	20	0	1	0
chr4	70158722	70158722	-	GCCTGCTGCAGAGGCACCTGT	exonic	PRR27	.	nonframeshift insertion	PRR27:NM_214711:exon3:c.470_471insGCCTGCTGCAGAGGCACCTGT:p.V164_G165insPAAEAPV,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.092e-06	2.091e-06	1.386e-06	2.807e-06	0.0002	5.6e-07	1.5e-07	3.1e-07	1.1e-07	0	0	0	0	0	0.0002	1.834e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1582.11	79	chr4	70158722	.	A	AGCCTGCTGCAGAGGCACCTGT,*	1582.11	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-1.141e+00;DP=1077;ExcessHet=0.3300;FS=2.767;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=5.93;ReadPosRankSum=-1.805e+00;SOR=0.544	GT:AD:DP:GQ:PL	0/0:35,0,0:35:99:0,99,1222,99,1222,1222	18	0	1	0
chr4	70158722	70158722	A	0	exonic	PRR27	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1582.11	79	chr4	70158722	.	A	AGCCTGCTGCAGAGGCACCTGT,*	1582.11	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-1.141e+00;DP=1077;ExcessHet=0.3300;FS=2.767;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=5.93;ReadPosRankSum=-1.805e+00;SOR=0.544	GT:AD:DP:GQ:PL	0/0:35,0,0:35:99:0,99,1222,99,1222,1222	18	0	1	0
chr4	70688902	70688902	-	GAG	exonic	UTP3	.	nonframeshift insertion	UTP3:NM_020368:exon1:c.225_226insGAG:p.E81_V82insE,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	.	0.0003	0.0001	0.0002	0	0	0.0004	0	0	0.0001876	29	154602	rs781599293	0.0005	0.0005	0.0005	0.0005	0.0007	0.0005	0.0004	0.0005	0.0005	0.0003	0.0002	3.835e-05	7.565e-05	1.874e-05	0.0007	0.0006	0.0004	3.488e-05	0.0004	0.0004	0.0004	0.0003	0.0007	0.0003	0.0003	0.0005	0.0005	0.0001	0	0	0	0	9.625e-05	0.0034	0.0007	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1497.94	38	chr4	70688902	.	C	CGAG	1497.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=810;ExcessHet=0.0000;FS=0.882;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.49;ReadPosRankSum=-3.780e-01;SOR=0.877	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1206	20	0	1	0
chr4	70705091	70705091	C	A	exonic	RUFY3	.	nonsynonymous SNV	RUFY3:NM_001130709:exon1:c.C155A:p.A52D,	.	.	429	1084	9	0	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.0	B	0.0	B	.	.	1.000	N	.	.	2.47	T	-0.963	T	0.021	T	0.102	3.697	18.78	-0.336	0.366	-0.334	5.308	0.020	.	.	.	0.0052	0	0	0	.	0.04	0	0	0.00011	17	154602	rs770623744	0.0013	0.0012	0.0014	0.0013	0.0045	0.0013	0.0013	0.0028	0.0022	0.0001	0.0003	0.0043	0	0.0005	0.0045	0.0014	0.0014	0.0007	0.0008	0.0008	0.0009	0.0007	0.0013	0.0007	0.0007	0.0011	0.0010	0.0002	0	0.0003	0.0029	0	0.0004	0	0.0013	0.0014	0.0006	0.06	0.37326	T	0.197	0.56640	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	2.47	0.14783	T	-5.25	0.84035	D	0.1	0.08227	-0.9631	0.38586	T	0.021	0.08824	T	8	0.005218327	0.00114	T	.	.	.	0.020	0.03691	.	.	0.0675242888579	0.06100	.	.	.	.	.	.	.	0.06855	0.33487	T	-0.545158	0.00312	T	-0.580485	0.14501	T	0.159272780133707	0.17818	T	0.492351	0.15167	T	.	.	.	.	.	.	.	.	-5.209	0.39033	T	.	.	0.144	0.31658	B	.;.	.;.	2.093206	0.26629	17.18	0.98873818688796178	0.47702	0.00400	0.02002	N	AEFDBHCIJ	0.040379	0.05997	N	-0.770890031319576	0.14072	0.6980951	-0.768609918459942	0.15266	0.8020189	0.999998198596944	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.492483	0.08430	1	.	.	2.86	-0.336	0.12030	-1.091000	0.03480	1.303000	0.25487	0.442000	0.21104	0.000000	0.06391	0.063000	0.22074	0.317000	0.24900	0.2172:0.3553:0.4275:0.0	5.308	0.15124	850	0.35610	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	344.98	24	chr4	70705091	.	C	A	344.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.491;DP=552;ExcessHet=0.0000;FS=1.289;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.32;ReadPosRankSum=-6.200e-02;SOR=0.684	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,960	20	0	1	0
chr4	70839692	70839692	G	T	exonic	GRSF1	.	nonsynonymous SNV	GRSF1:NM_002092:exon1:c.C136A:p.R46S,	.	.	394	1123	4	1	0	6	0.0026643	.	.	2340855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.59	T	0.0	B	0.001	B	.	.	1.000	D	0	N	2.24	T	-1.010	T	0.017	T	0.375	1.779	11.91	2.34	0.666	.	5.375	0.050	0.134165418943	.	.	0.0003	0	0	0	.	0	0	0.0003	1.29e-05	2	154602	rs769022123	0.0001	0.0001	0.0001	0.0001	0.0034	0.0001	0.0001	0.0020	0.0016	3.916e-05	0.0003	0	3.509e-05	0	0.0034	0.0001	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0007	0.0001	8.722e-05	0.0004	0.0003	4.812e-05	0	0.0007	0	0	0	0	0.0001	0.0005	0	0.345	0.12511	T	0.848	0.03527	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999908	0.19694	N	0.345	0.11182	N	2.24	0.17923	T	-0.53	0.16393	N	0.264	0.29889	-1.0102	0.26854	T	0.017	0.07092	T	9	0.06259611	0.08026	T	0.134165	0.81658	D	0.050	0.13987	0.431	0.48007	0.148003135375	0.14442	0.2884030428147245	0.28753	0.213979805848	0.23928	0.911752820015	0.97633	D	0.013991	0.11998	T	-0.362619	0.03984	T	-0.498975	0.22455	T	0.146461375667103	0.16818	T	0.540746	0.18332	T	0.12519787	0.29355	0.1296727	0.31175	0.12519787	0.29354	0.1296727	0.31174	-4.028	0.24221	T	.	.	0.792	0.76920	P	.	.	3.084554	0.41513	21.4	0.97830627535876613	0.36259	0.15944	0.19156	N	ALL	0.074218	0.14871	N	-0.795393601741868	0.13429	0.6615061	-0.710108440125152	0.16709	0.8851896	0.999999999999839	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.19	2.34	0.28071	3.997000	0.56729	10.676000	0.83558	0.587000	0.30956	0.992000	0.37556	1.000000	0.68203	0.013000	0.09966	0.2673:0.0:0.7327:0.0	5.375	0.15464	871	0.31377	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	652.98	38	chr4	70839692	.	G	T	652.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.343;DP=656;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.18;ReadPosRankSum=0.880;SOR=0.852	GT:AD:DP:GQ:PL	0/0:17,0:17:51:0,51,486	20	0	1	0
chr4	71486986	71486986	G	A	exonic	SLC4A4	.	nonsynonymous SNV	SLC4A4:NM_003759:exon12:c.G1810A:p.E604K	Renal tubular acidosis, proximal, with ocular abnormalities, Autosomal recessive	.	4	1510	8	0	0	8	0.00264201	.	.	299374	Autosomal_recessive_proximal_renal_tubular_acidosis|SLC4A4-related_disorder|not_provided	MONDO:MONDO:0011422,MedGen:C1970309,OMIM:604278,Orphanet:93607|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.92	T	0.007	B	0.003	B	0.219	N	1.000	N	0.55	N	-0.73	T	-0.972	T	0.141	T	0.287	-1.156	0.099	3.43	1.448	1.744	4.874	0.106	0.0298721423589	0.0010	0.000798722	0.0006	0.0003	0.0004	0	0	0.0008	0.0055	0	0.0005369	83	154602	rs145378038	0.0005	0.0005	0.0005	0.0005	0.0084	0.0005	0.0004	0.0065	0.0058	0.0007	0.0012	0.0049	2.534e-05	1.876e-05	0.0084	0.0003	0.0010	0.0001	0.0010	0.0010	0.0009	0.0010	0.0046	0.0008	0.0008	0.0037	0.0034	0.0002	0	0.0046	0.0075	0	0	0	0.0005	0.0024	0.0002	0.82	0.03696	T	0.833	0.03863	T	0.0	0.14184	B	0.001	0.08700	B	0.219375	0.16175	N	0.600177	1	0.08975	N	0.345	0.11182	N	-1.1	0.77336	T	-0.82	0.22508	N	0.471	0.50778	-0.9720	0.36776	T	0.141	0.46091	T	10	0.006279379	0.00142	T	0.029872	0.52294	D	0.106	0.30130	.	.	0.310597465726	0.30670	0.7448526558527874	0.74431	0.591792601973	0.54603	0.371115744114	0.20992	T	0.329032	0.69938	T	-0.384934	0.02899	T	-0.371259	0.36743	T	0.00713112017665689	0.00081	T	0.826217	0.48957	T	0.07781478	0.17684	0.073392235	0.15944	0.06422923	0.13606	0.054041848	0.09218	-4.556	0.31932	T	.	.	0.083	0.09288	B	.;.;.;.;.	.;.;.;.;.	1.642277	0.20957	14.99	0.50640343450788738	0.04420	0.04691	0.10376	N	AEFBI	0.096412	0.19464	N	-0.797935580826612	0.13364	0.6577997	-0.706285726043816	0.16803	0.890665	0.0202894808128293	0.13243	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.33	3.43	0.38372	1.838000	0.38851	7.212000	0.57825	0.676000	0.76740	0.027000	0.20232	1.000000	0.68203	0.082000	0.17360	0.1364:0.2187:0.6449:0.0	4.874	0.13006	703	0.57489	Bicarbonate transporter, C-terminal;Bicarbonate transporter, C-terminal;Bicarbonate transporter, C-terminal;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	506.98	33	chr4	71486986	.	G	A	506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.785e+00;DP=728;ExcessHet=0.0000;FS=1.177;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=0.681;SOR=1.085	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1008	20	0	1	0
chr4	72128857	72128857	T	A	exonic	NPFFR2	.	nonsynonymous SNV	NPFFR2:NM_004885:exon2:c.T266A:p.I89K	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.986	D	0.000	D	1.000	D	3.725	H	0.95	T	-0.003	T	0.381	T	0.754	4.704	26.1	5.9	2.251	7.892	15.994	0.605	0.0547274034075	.	.	8.24e-06	0	0	0	0	0	0	6.06e-05	6.5e-06	1	154602	rs773354770	7.53e-06	7.526e-06	2.725e-06	1.238e-05	8.118e-05	4.04e-06	2.95e-06	3.766e-05	2.662e-05	0	0	0	0	0	0	2.7e-06	1.657e-05	8.118e-05	1.315e-05	1.314e-05	1.285e-05	1.345e-05	6.553e-05	2.18e-06	8.2e-07	.	.	0	0	6.553e-05	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.986	0.76916	D	0.000029	0.55875	D	0.000000	1	0.81001	D	4.15	0.97575	H	0.95	0.43279	T	-5.11	0.83092	D	0.746	0.77883	-0.0032	0.82190	T	0.381	0.73751	T	10	0.9021411	0.89576	D	0.054727	0.65965	D	0.605	0.84452	0.765	0.89293	0.94654867403	0.94598	0.8174305243737258	0.81700	0.268094114089	0.29338	0.640053808689	0.58571	T	0.329833	0.70009	T	-0.0236972	0.48323	T	-0.0691619	0.65685	T	0.993349611759186	0.84107	D	0.964804	0.88325	D	0.7506211	0.80904	0.88012445	0.93570	0.7506211	0.80906	0.88012445	0.93571	-15.412	0.96743	D	.	.	0.880	0.83071	P	.;.;.	.;.;.	4.864309	0.79626	27.1	0.9665040308232965	0.30589	0.94850	0.62546	D	AEFDHCI	0.903712	0.85313	D	0.983987794198021	0.95231	13.42708	0.916923502971081	0.96268	14.49468	0.999988326699474	0.51787	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.9	5.9	0.94952	7.898000	0.85965	7.598000	0.61467	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.993000	0.69303	0.0:0.0:0.0:1.0	15.994	0.80019	717	0.55835	GPCR, rhodopsin-like, 7TM;.;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2685.98	33	chr4	72128857	.	T	A	2685.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.732;DP=905;ExcessHet=0.0000;FS=3.292;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.10;ReadPosRankSum=-2.320e+00;SOR=0.486	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1206	20	0	1	0
chr4	73412006	73412006	C	T	exonic	ALB	.	nonsynonymous SNV	ALB:NM_000477:exon7:c.C724T:p.R242C,	Analbuminemia	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.952	N	1.000	N	2.48	M	-0.88	T	-0.939	T	0.153	T	0.598	2.857	15.52	1.34	0.885	-0.626	4.512	0.120	0.0510634799615	.	.	2.473e-05	0	8.675e-05	0	0	1.499e-05	0	6.056e-05	1.94e-05	3	154602	rs754953092	2.873e-05	2.873e-05	2.042e-05	3.713e-05	0.0005	2.151e-05	1.908e-05	0.0001	7.838e-05	0	6.708e-05	0	0	0	0.0005	1.709e-05	4.968e-05	0.0002	1.315e-05	1.313e-05	1.285e-05	1.346e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.001	0.91255	D	0.003	0.79402	D	1.0	0.90584	D	0.981	0.86255	D	0.951509	0.08284	N	0.979822	0.999989	0.18198	N	2.915	0.84231	M	-0.88	0.74689	T	-4.42	0.79659	D	0.466	0.56748	-0.9390	0.42774	T	0.153	0.48291	T	10	0.6966975	0.72188	D	0.051063	0.64505	D	0.543	0.80960	0.744	0.87570	0.89305311408	0.89199	0.6057388224713427	0.60504	0.920899058271	0.71449	0.285074472427	0.08209	T	0.432448	0.78021	T	-0.110649	0.34662	T	-0.160048	0.58349	T	0.721924600769641	0.41796	D	0.950605	0.81304	D	0.47771606	0.65761	0.39684358	0.64315	0.47771606	0.65762	0.39684358	0.64315	-10.735	0.78185	D	0.8360328783640325	0.90570	0.486	0.70803	A	.;.;.;.;.	.;.;.;.;.	3.957315	0.58015	23.9	0.99871158872341326	0.94902	0.17158	0.19715	N	AEFBHCI	0.779026	0.71135	D	-0.264167414730531	0.30543	1.703957	-0.382332727050436	0.25524	1.404163	0.999992854498552	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	6.02	1.34	0.21018	-0.238000	0.08995	0.062000	0.14145	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.924000	0.46004	0.4984:0.297:0.0:0.2046	4.512	0.11325	814	0.42100	Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal;Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal;Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal;Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal;Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1866.98	35	chr4	73412006	.	C	T	1866.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.079;DP=837;ExcessHet=0.0000;FS=2.157;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=-3.550e-01;SOR=0.501	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1407	20	0	1	0
chr4	73442372	73442372	A	C	exonic	AFP	.	nonsynonymous SNV	AFP:NM_001134:exon5:c.A559C:p.K187Q	Alpha-fetoprotein deficiency, Autosomal recessive	.	0	1434	86	2	0	90	0.030426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.79	P	0.541	P	0.000	D	0.645	D	2.3	M	0.85	T	-0.776	T	0.090	T	0.215	2.514	14.37	4.11	2.250	0.772	8.108	0.090	.	0.0085	0.00579073	0.0107	0.0015	0.0046	0	0.0056	0.0148	0.0111	0.0120	0.0102198	1580	154602	rs35765619	0.0100	0.0100	0.0099	0.0101	0.0473	0.0098	0.0098	0.0427	0.0409	0.0021	0.0061	0.0598	0.0001	0.0062	0.0473	0.0092	0.0150	0.0114	0.0086	0.0086	0.0084	0.0089	0.0122	0.0082	0.0081	0.0108	0.0102	0.0018	0.0351	0.0122	0.0614	0	0.0041	0.0340	0.0095	0.0208	0.0122	0.205	0.20078	T	0.33	0.19721	T	0.79	0.44599	P	0.49	0.47330	P	0.000023	0.55875	D	0.114545	0.645196	0.32912	D	1.83	0.48079	L	0.85	0.47130	T	-0.26	0.11185	N	0.149	0.15187	-0.7760	0.56526	T	0.090	0.34683	T	10	0.0028496683	0.00045	T	.	.	.	0.090	0.26093	.	.	.	.	0.10880772504355984	0.10809	0.243530582748	0.26857	0.423839718103	0.28365	T	0.111791	0.42756	T	-0.543176	0.00321	T	-0.542623	0.18039	T	0.0308828407571469	0.02127	T	0.712529	0.32403	T	0.2085064	0.43089	0.17459998	0.39867	0.18125178	0.39286	0.17459998	0.39866	-3.377	0.14748	T	.	.	0.099	0.18828	B	.;.	.;.	2.461662	0.31716	18.82	0.98290296841271174	0.39945	0.67771	0.33554	D	AEFDBHCI	0.226950	0.35082	N	0.188298087251018	0.50637	3.251831	0.186493612588919	0.49107	3.117882	0.999999999849649	0.74766	0.516011	0.20929	0	0.59043	0.45803	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.33	4.11	0.47350	0.459000	0.21619	3.047000	0.36105	0.691000	0.84096	0.075000	0.22209	0.992000	0.31684	0.953000	0.50222	0.9082:0.0:0.0918:0.0	8.108	0.30059	783	0.47268	Serum albumin, N-terminal|Serum albumin, conserved site|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal;Serum albumin, N-terminal|Serum albumin, conserved site|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal	.	.	.	.	rs35765619	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.04762	2852.11	40	chr4	73442372	.	A	C	2852.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.699;DP=868;ExcessHet=0.1072;FS=1.092;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=0.632;SOR=0.793	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	19	0	2	0
chr4	73854066	73854066	T	A	exonic	PF4V1	.	nonsynonymous SNV	PF4V1:NM_002620:exon3:c.T259A:p.L87M,	.	.	430	1076	16	0	0	16	0.00738007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.004	N	0.883	N	3.51	H	3.3	T	-1.079	T	0.046	T	0.334	2.802	15.33	0.245	-0.006	-0.194	3.625	0.132	0.00724580577093	0.0021	0.000998403	0.0020	0.0003	0.0025	0	0	0.0030	0.0055	0.0004	0.0018823	291	154602	rs144390629	0.0016	0.0016	0.0016	0.0016	0.0198	0.0015	0.0015	0.0168	0.0157	0.0004	0.0033	0.0295	2.519e-05	1.872e-05	0.0198	0.0009	0.0042	0.0004	0.0019	0.0019	0.0020	0.0018	0.0037	0.0017	0.0016	0.0030	0.0027	0.0004	0.0099	0.0037	0.0334	0	0	0.0136	0.0010	0.0066	0.0004	0.001	0.78490	D	0.008	0.67890	D	1.0	0.90584	D	0.999	0.92359	D	0.003562	0.34767	N	0.188546	0.883479	0.28008	N	3.63	0.94006	H	3.3	0.06368	T	-1.88	0.43906	N	0.524	0.55366	-1.0788	0.07582	T	0.046	0.19760	T	10	0.014979571	0.00314	T	0.007246	0.19225	T	0.132	0.35948	.	.	0.104622674875	0.10061	0.16905330169777852	0.16825	0.746937198462	0.63572	0.373347193003	0.21310	T	0.200484	0.55809	T	-0.481996	0.00720	T	-0.469122	0.25611	T	0.135686137053521	0.15898	T	0.754325	0.37688	T	0.49823883	0.66992	0.20690052	0.44925	0.49823883	0.66993	0.20690052	0.44924	-7.41	0.56975	T	.	.	0.280	0.51341	B	.	.	1.981298	0.25168	16.67	0.98963948329266327	0.49383	0.65773	0.32850	D	AEFDBCI	0.141555	0.26375	N	0.066160601643259	0.44889	2.754864	-0.160980490301472	0.32988	1.88232	0.96470685480027	0.28779	0.559995	0.30671	0	0.563428	0.19063	0	0.527494	0.11647	0	0.444512	0.06955	0	.	.	4.01	0.245	0.14772	-0.128000	0.10508	0.338000	0.17353	-0.866000	0.02592	0.964000	0.33853	0.964000	0.29435	0.005000	0.06747	0.0:0.4725:0.1899:0.3377	3.625	0.07654	707	0.57054	Chemokine interleukin-8-like domain|CXC chemokine, conserved site|Chemokine interleukin-8-like domain|CXC Chemokine domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1479.98	36	chr4	73854066	.	T	A	1479.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.799;DP=888;ExcessHet=0.0000;FS=4.145;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.13;ReadPosRankSum=-1.800e-02;SOR=1.053	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr4	73869681	73869681	C	T	exonic	CXCL1	.	nonsynonymous SNV	CXCL1:NM_001511:exon2:c.C113T:p.A38V,	.	.	413	1104	5	0	0	5	0.00225938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.001	B	0.019	B	0.671	N	1.000	N	0.245	N	1.55	T	-0.963	T	0.033	T	0.056	1.237	10.02	-7.71	-1.321	-2.137	12.871	0.034	0.00479082268789	7.7e-05	0.000399361	0.0002	0	0.0002	0	0	0.0001	0	0.0004	0.0001358	21	154602	rs201091698	0.0001	0.0001	6.126e-05	0.0001	0.0035	9.115e-05	8.645e-05	0.0023	0.0019	0	0.0002	0	0	0	0.0035	3.777e-05	0.0002	0.0008	9.846e-05	9.841e-05	6.422e-05	0.0001	0.0014	6.001e-05	4.875e-05	0.0007	0.0005	0	0	0.0002	0.0003	0	0	0	5.879e-05	0	0.0014	0.523	0.07187	T	0.629	0.07220	T	0.001	0.07471	B	0.019	0.18783	B	0.671169	0.10340	N	0.868290	1	0.08975	N	0.165	0.08973	N	1.55	0.29866	T	-0.69	0.19720	N	0.134	0.13055	-0.9630	0.38606	T	0.033	0.14117	T	10	0.0109891	0.00242	T	0.004791	0.11973	T	0.034	0.08419	.	.	0.126345400529	0.12197	0.12080034057420752	0.12007	0.123718543078	0.13920	0.448503553867	0.31739	T	0.115297	0.43378	T	-0.652804	0.00070	T	-0.811321	0.01635	T	0.771503388881683	0.44530	D	0.160084	0.01443	T	0.03503785	0.04047	0.037996657	0.03572	0.03503785	0.04047	0.037996657	0.03571	-4.08	0.24994	T	.	.	0.082	0.08948	B	.	.	-1.203186	0.00527	0.012	0.83055295649272098	0.14518	0.01912	0.05850	N	ALL	0.051918	0.09217	N	-1.82293793063761	0.00491	0.02114847	-1.88660079610653	0.00520	0.02306572	0.999999999996476	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.503968	0.08637	0	0.56214	0.19341	0	.	.	5.05	-7.71	0.01116	-1.837000	0.01782	-8.333000	0.00987	-0.802000	0.03151	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.7225:0.1246:0.153	12.871	0.57354	429	0.80881	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1847.98	35	chr4	73869681	.	C	T	1847.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=964;ExcessHet=0.0000;FS=0.548;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.53;ReadPosRankSum=-1.365e+00;SOR=0.641	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1135	20	0	1	0
chr4	73998577	73998577	C	T	exonic	CXCL5	.	nonsynonymous SNV	CXCL5:NM_002994:exon1:c.G5A:p.S2N,	.	.	378	1141	2	1	0	4	0.00174978	.	.	3243225	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.19	T	0.608	P	0.202	B	0.999	N	1.000	N	1.95	M	.	.	-1.026	T	0.077	T	0.056	2.587	14.61	0.638	-0.100	0.598	3.446	0.049	0.00313136025525	.	.	2.405e-05	0	0	0	0	4.728e-05	0	0	1.29e-05	2	154602	rs200226758	3.769e-05	3.694e-05	3.321e-05	4.224e-05	0.0002	2.952e-05	2.644e-05	3.504e-05	3.162e-05	0	0	0	0	0	0.0002	4.555e-05	5.058e-05	0	4.6e-05	4.597e-05	5.139e-05	4.035e-05	0.0001	2.109e-05	1.527e-05	4.765e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0	0	0.005	0.63226	D	0.129	0.34837	T	0.608	0.39540	P	0.202	0.36942	B	0.998762	0.07951	N	1.000590	1	0.08975	N	2.39	0.68882	M	.	.	.	-0.82	0.22508	N	0.183	0.19861	-1.0260	0.21756	T	0.077	0.30889	T	9	0.14011005	0.26634	T	0.003131	0.06815	T	0.049	0.13647	.	.	0.231231049324	0.22751	0.23375044786846833	0.23290	0.186424899803	0.20951	0.537691831589	0.44119	T	0.102693	0.41065	T	-0.349067	0.04786	T	-0.545538	0.17756	T	0.0991052538156509	0.12258	T	0.389061	0.09624	T	0.12929508	0.30203	0.17316453	0.39624	0.12929508	0.30203	0.17316453	0.39623	-5.64	0.43156	T	.	.	0.114	0.22573	B	.	.	1.038850	0.14191	10.77	0.97755761419083931	0.35776	0.05412	0.11282	N	ALL	0.034772	0.04364	N	-0.612804017205834	0.18559	0.9644808	-0.751556335991391	0.15684	0.8260976	0.999999990443367	0.74766	0.437478	0.07067	0	0.563428	0.19063	0	0.52208	0.10781	0	0.603991	0.37454	0	.	.	3.51	0.638	0.16913	0.691000	0.25147	0.015000	0.13501	0.454000	0.21428	0.077000	0.22263	0.000000	0.08366	0.080000	0.17246	0.0:0.5264:0.2164:0.2572	3.446	0.07050	238	0.90711	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1439.98	37	chr4	73998577	.	C	T	1439.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.540e-01;DP=927;ExcessHet=0.0000;FS=3.976;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.29;ReadPosRankSum=-2.141e+00;SOR=1.022	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	20	0	1	0
chr4	74180815	74180819	TCCTG	-	exonic	MTHFD2L	.	stopgain	MTHFD2L:NM_001351314:exon5:c.19_23del:p.C8*,	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs778332609	0.0011	0.0005	0.0012	0.0009	0.0026	0.0009	0.0009	0.0011	0.0008	0	0.0002	0.0174	0	0	0.0026	0.0004	0.0018	0.0003	0.0010	0.0010	0.0009	0.0011	0.0006	0.0008	0.0008	0.0005	0.0004	7.216e-05	0.0099	6.543e-05	0.0259	0	0	0	0.0006	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	924.94	34	chr4	74180814	.	CTCCTG	C	924.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.860e-01;DP=788;ExcessHet=0.0000;FS=1.742;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.55;ReadPosRankSum=0.341;SOR=0.334	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr4	74445374	74445374	C	T	exonic	AREG	.	nonsynonymous SNV	AREG:NM_001657:exon1:c.C29T:p.P10L,	.	.	430	1080	11	1	0	13	0.00598251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.098	B	0.01	B	0.366	N	0.943	N	0.6	N	2.7	T	-0.958	T	0.014	T	0.238	2.037	12.77	1.03	0.061	0.213	2.345	0.015	0.00103404968731	7.7e-05	0.0109824	0.0085	0.0007	0.0003	0	0	4.613e-05	0.0182	0.0538	0.0048447	749	154602	rs376784024	0.0024	0.0025	0.0014	0.0035	0.0387	0.0024	0.0023	0.0376	0.0371	0.0002	0	0	2.522e-05	0	0.0011	0.0001	0.0020	0.0387	0.0015	0.0016	0.0008	0.0023	0.0443	0.0014	0.0013	0.0395	0.0376	0.0002	0	0	0	0	0	0	0.0002	0.0005	0.0443	1.0	0.14843	T	0.147	0.41742	T	0.098	0.25584	B	0.01	0.14941	B	0.365883	0.13600	N	0.695263	0.94284	0.26739	N	1.7	0.43825	L	2.57	0.13552	T	-0.14	0.09135	N	0.125	0.28028	-0.9579	0.39571	T	0.014	0.05608	T	10	0.0018948913	0.00026	T	.	.	.	0.015	0.02232	.	.	0.251679625132	0.24793	0.18960787888254005	0.18878	1.87222697468	0.92530	0.636447370052	0.58060	T	0.151918	0.49209	T	-0.616399	0.00116	T	-0.628914	0.10497	T	0.0171175684071168	0.00457	T	0.742826	0.36203	T	0.026477609	0.01709	0.027198391	0.00856	0.026477609	0.01709	0.027198391	0.00855	-0.577	0.00632	T	.	.	0.121	0.26855	B	.;.	.;.	1.796215	0.22833	15.78	0.97939868409903441	0.37021	0.06763	0.12785	N	ALL	0.020406	0.00803	N	-0.968971064225336	0.09272	0.4381197	-0.916639232025245	0.11702	0.5977641	0.998970322747863	0.38110	0.487112	0.14033	0	0.573888	0.26702	0	0.0	0.00061	3	0.564101	0.26826	0	.	.	3.89	1.03	0.19161	0.152000	0.16120	1.274000	0.25309	0.549000	0.26987	0.015000	0.19116	0.806000	0.26994	0.307000	0.24666	0.1978:0.4994:0.1919:0.111	2.345	0.04008	579	0.69780	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1199.98	89	chr4	74445374	.	C	T	1199.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.870;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.48;ReadPosRankSum=-3.340e-01;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,979	20	0	1	0
chr4	74446570	74446570	A	G	exonic	AREG	.	nonsynonymous SNV	AREG:NM_001657:exon2:c.A98G:p.Y33C,	.	.	433	1077	11	1	0	13	0.00599908	.	.	709457	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.19	T	.	.	.	.	0.224	N	1.000	N	.	.	2.47	T	-1.016	T	0.030	T	0.148	-0.317	2.493	-5.68	-1.400	-1.030	5.448	0.026	.	0.0004	0.00858626	0.0013	0.0007	0	0	0	0	0.0025	0.0102	0.0062418	965	154602	rs201209086	0.0025	0.0025	0.0015	0.0036	0.0390	0.0024	0.0024	0.0379	0.0374	0.0006	0.0001	0	2.519e-05	0	0.0010	0.0001	0.0023	0.0390	0.0017	0.0017	0.0010	0.0024	0.0445	0.0015	0.0015	0.0396	0.0378	0.0007	0	0.0003	0	0	0	0	0.0001	0.0019	0.0445	0.108	0.29420	T	0.177	0.31936	T	0.961	0.55431	D	0.42	0.45080	B	0.223832	0.03473	N	1.550240	1	0.08975	N	0.665	0.16292	N	2.47	0.14783	T	-0.58	0.17417	N	0.182	0.19728	-0.9791	0.35208	T	0.026	0.11309	T	10	0.0028220117	0.00045	T	.	.	.	0.131	0.35738	.	.	0.151262610727	0.14761	0.14238437144027366	0.14161	2.19856283561	0.95671	0.294216394424	0.09542	T	0.179641	0.53070	T	-0.65469	0.00068	T	-0.699567	0.05849	T	0.0337499164163251	0.02596	T	0.646635	0.25786	T	0.034641616	0.03928	0.040164653	0.04279	0.034641616	0.03927	0.040164653	0.04279	-7.363	0.56643	T	.	.	0.084	0.13690	B	.;.	.;.	-0.462999	0.01987	0.174	0.56612482229642103	0.05590	0.02257	0.06531	N	AEFGBI	0.040767	0.06108	N	-1.23317617574155	0.04527	0.2044577	-1.47280400056617	0.02570	0.1184181	0.978259194570649	0.29903	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	-10.2	0.00305	-1.012000	0.03759	-0.252000	0.10498	-0.156000	0.11795	0.000000	0.06391	0.000000	0.08366	0.146000	0.20164	0.2225:0.6401:0.1375:0.0	11.585	0.50168	578	0.69858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	760.98	53	chr4	74446570	.	A	G	760.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.630e-01;DP=780;ExcessHet=0.0000;FS=1.083;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.36;ReadPosRankSum=1.17;SOR=0.465	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1401	20	0	1	0
chr4	75516961	75516961	T	G	exonic	THAP6	.	nonsynonymous SNV	THAP6:NM_001317791:exon3:c.T270G:p.D90E	.	.	441	1080	1	0	0	1	0.000462749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	B	0.012	B	0.003	N	0.998	N	0.265	N	-3.88	D	-0.432	T	0.557	D	0.104	0.907	8.687	-0.446	-0.112	0.358	2.389	0.227	0.0256727871315	.	.	.	.	.	.	.	.	.	.	.	.	.	rs143920365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.576e-06	6.568e-06	1.286e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.238	0.19710	T	0.317	0.21011	T	0.002	0.09854	B	0.012	0.16012	B	0.003199	0.35300	N	0.196550	0.998727	0.22567	N	0.77	0.19370	N	-3.88	0.95953	D	-0.93	0.24898	N	0.207	0.29889	-0.4320	0.71001	T	0.557	0.83854	D	9	0.11737943	0.22166	T	0.025673	0.48627	D	0.227	0.52620	0.415	0.45380	0.286081765059	0.28222	0.07958313866828533	0.07893	0.178201552963	0.20047	0.449294269085	0.31847	T	0.20593	0.68011	T	-0.037707	0.46287	T	-0.29194	0.45571	T	0.105341888964176	0.12934	T	0.650435	0.32820	T	0.06105311	0.12599	0.043948464	0.05585	0.06105311	0.12598	0.043948464	0.05585	-4.801	0.37463	T	.	.	0.121	0.34049	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.099034	0.14832	11.37	0.87865257005689446	0.17539	0.44410	0.27312	N	AEFBI	0.097878	0.19733	N	-0.650967224095488	0.17432	0.8969746	-0.528689769911561	0.21375	1.156033	0.999385585773059	0.39415	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.09	-0.446	0.11627	0.346000	0.19737	1.028000	0.23458	0.665000	0.62972	0.869000	0.30776	1.000000	0.68203	0.998000	0.85391	0.1432:0.0833:0.2972:0.4763	2.389	0.04107	939	0.14249	.;.;THAP-type zinc finger|THAP-type zinc finger;.;.;.;.;.;THAP-type zinc finger|THAP-type zinc finger	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	802.98	33	chr4	75516961	.	T	G	802.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.038;DP=747;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=0.295;SOR=0.646	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1162	20	0	1	0
chr4	75564323	75564323	T	C	exonic	ODAPH	.	nonsynonymous SNV	ODAPH:NM_178497:exon2:c.T277C:p.S93P,	.	.	9	1495	18	0	0	18	0.00598404	.	.	709460	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.245	N	1.000	N	0	N	1.54	T	-1.006	T	0.023	T	.	1.064	9.346	2.51	0.539	1.231	6.291	0.023	.	0.0091	0.00299521	0.0062	0.0012	0.0027	0.0002	0.0071	0.0090	0.0066	0.0035	0.0064488	997	154602	rs140756390	0.0092	0.0092	0.0094	0.0090	0.0107	0.0091	0.0090	0.0105	0.0105	0.0013	0.0044	0.0060	2.519e-05	0.0061	0.0045	0.0107	0.0079	0.0034	0.0067	0.0067	0.0069	0.0066	0.0102	0.0064	0.0062	0.0096	0.0094	0.0015	0.0011	0.0088	0.0040	0.0002	0.0075	0.0068	0.0102	0.0090	0.0029	0.978	0.02017	T	0.687	0.05976	T	0.0	0.02946	B	0.0	0.01387	B	0.244876	0.15633	N	0.530450	1	0.08975	N	.	.	.	1.54	0.30133	T	2.5	0.00234	N	0.062	0.03392	-1.0065	0.28004	T	0.023	0.09741	T	9	0.0036925077	0.00068	T	.	.	.	0.023	0.04649	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	3.92E-4	0.00124	T	-0.496481	0.00598	T	-0.47426	0.25058	T	0.000306451671654251	0.00002	T	0.251175	0.03802	T	0.05880656	0.11876	0.094854295	0.22470	0.061065245	0.12601	0.094854295	0.22469	-2.003	0.03192	T	0.029427085984377505	0.00071	0.059	0.00834	B	.	.	1.256510	0.16537	12.60	0.90067394681347235	0.19352	0.00037	0.00318	N	AEFI	0.009759	0.00060	N	-1.11947166504721	0.06297	0.2895017	-1.09129166011743	0.07871	0.3846185	0.0118062988804829	0.12238	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	4.27	2.51	0.29435	1.239000	0.32322	0.844000	0.22071	-0.201000	0.08892	0.016000	0.19238	0.000000	0.08366	0.222000	0.22517	0.0:0.762:0.0:0.238	6.291	0.20269	938	0.14419	.	NUP54	Thyroid	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	2646.98	39	chr4	75564323	.	T	C	2646.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.021e+00;DP=926;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.43;ReadPosRankSum=-1.494e+00;SOR=0.676	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr4	75860903	75860903	C	T	exonic	PPEF2	.	nonsynonymous SNV	PPEF2:NM_006239:exon17:c.G2026A:p.E676K,	.	.	.	.	.	.	.	.	.	.	.	2331643	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.54	M	-0.22	T	0.058	D	0.524	D	0.937	5.256	33	6.07	2.884	5.619	18.138	0.532	0.185721498854	0.0002	.	0.0002	9.612e-05	8.639e-05	0	0	0.0003	0	6.065e-05	0.0001617	25	154602	rs138073376	0.0003	0.0003	0.0003	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	0.0008	0.0002	0	2.519e-05	7.488e-05	0.0002	0.0003	0.0004	3.478e-05	0.0002	0.0002	0.0003	0.0001	0.0003	0.0001	0.0001	0.0002	0.0001	0.0001	0	0.0003	0	0	9.411e-05	0	0.0002	0.0014	0	0.003	0.68238	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.051093	0.999995	0.58761	D	2.99	0.85699	M	-0.22	0.66474	T	-3.64	0.69835	D	0.873	0.87049	0.058	0.83401	D	0.524	0.82273	D	10	0.8612442	0.85345	D	0.185721	0.85830	D	0.532	0.80307	.	.	0.932986529702	0.93230	0.9184839727054792	0.91824	0.686946815041	0.60353	0.713418602943	0.69089	T	0.61793	0.87983	D	0.123622	0.66734	D	0.241519	0.85219	D	0.410692984053093	0.29344	T	0.989851	0.96764	D	0.6884318	0.77426	0.656627	0.79894	0.6884318	0.77428	0.656627	0.79895	-9.366	0.70022	D	.	.	0.590	0.68454	P	.	.	4.799474	0.77971	26.8	0.99885647183186654	0.96049	0.96549	0.69696	D	AEFBI	0.796889	0.72389	D	0.869105619843096	0.90168	10.28242	0.846321536304119	0.92798	11.63896	0.999999999797832	0.74766	0.603402	0.35316	0	0.573888	0.26702	0	0.618467	0.43123	0	0.663205	0.64265	0	.	.	6.07	6.07	0.98675	5.695000	0.67940	5.713000	0.49433	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:1.0:0.0:0.0	18.138	0.89558	903	0.23940	EF-hand domain|EF-Hand 1, calcium-binding site|EF-hand domain|EF-hand domain|EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	736.98	33	chr4	75860903	.	C	T	736.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.941;DP=780;ExcessHet=0.0000;FS=2.321;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.10;ReadPosRankSum=0.224;SOR=0.427	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1196	20	0	1	0
chr4	75866203	75866203	G	T	exonic	PPEF2	.	nonsynonymous SNV	PPEF2:NM_006239:exon15:c.C1906A:p.Q636K,	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.002	B	0.002	B	0.004	U	1.000	N	0.295	N	1.0	T	-1.044	T	0.055	T	0.116	-1.304	0.037	3.82	1.168	1.612	11.922	0.028	0.00509222113903	.	0.00159744	0.0006	0	0	0	0	1.514e-05	0.0011	0.0049	0.0005433	84	154602	rs539493453	0.0003	0.0003	0.0002	0.0005	0.0052	0.0003	0.0003	0.0048	0.0046	0	0	0	0	0	0.0002	9e-06	0.0002	0.0052	0.0002	0.0002	6.424e-05	0.0004	0.0066	0.0002	0.0001	0.0048	0.0042	0	0	0	0	0	0	0	0	0	0.0066	0.712	0.04020	T	0.841	0.03600	T	0.002	0.09854	B	0.002	0.06944	B	0.003910	0.34342	U	0.237586	0.999988	0.18198	N	0.755	0.19153	N	1.0	0.41392	T	-0.53	0.16393	N	0.137	0.13484	-1.0439	0.16148	T	0.055	0.23148	T	10	0.0052017868	0.00113	T	0.005092	0.12908	T	0.028	0.06331	.	.	0.466740653422	0.46302	0.4958766630899618	0.49508	0.190758179281	0.21387	0.351088702679	0.18081	T	0.036421	0.24096	T	-0.596656	0.00153	T	-0.62929	0.10469	T	0.0183623006063382	0.00554	T	0.566043	0.20025	T	0.12984602	0.30314	0.08722335	0.20261	0.12984602	0.30314	0.08722335	0.20260	-8.238	0.62680	D	.	.	0.071	0.04002	B	.	.	0.833657	0.12054	8.606	0.24112015898190514	0.01051	0.48457	0.28211	N	AEFBI	0.169204	0.29602	N	-0.730667140065841	0.15164	0.7618034	-0.611382151137117	0.19201	1.029114	0.691355817831795	0.22592	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.67	3.82	0.43153	1.980000	0.40241	3.223000	0.36864	0.618000	0.50648	0.623000	0.27939	0.917000	0.28245	0.239000	0.22975	0.0:0.0:0.8249:0.1751	11.922	0.52081	902	0.24074	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	607.98	35	chr4	75866203	.	G	T	607.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=767;ExcessHet=0.0000;FS=6.674;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.13;ReadPosRankSum=0.399;SOR=1.916	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1344	20	0	1	0
chr4	75975768	75975768	A	G	exonic	SDAD1	.	nonsynonymous SNV	SDAD1:NM_001288983:exon5:c.T443C:p.I148T	.	.	444	1076	1	1	0	3	0.00139211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.556	P	0.403	B	0.000	D	1.000	D	1.355	L	2.72	T	-1.115	T	0.030	T	0.505	3.052	16.19	5.2	2.081	5.009	13.288	0.074	0.00935520828947	0.0002	0.00139776	0.0005	0	8.637e-05	0.0059	0	0.0001	0	0.0003	0.0005239	81	154602	rs140040693	0.0004	0.0004	0.0004	0.0004	0.0098	0.0004	0.0003	0.0090	0.0087	0	2.236e-05	0	0.0098	0	0.0002	0.0001	0.0001	0.0002	0.0003	0.0003	0.0003	0.0003	0.0064	0.0002	0.0002	0.0047	0.0041	0	0	0	0	0.0064	0	0	0.0001	0.0005	0.0002	0.021	0.53900	D	0.039	0.51112	D	0.556	0.38244	P	0.338	0.44588	B	0.000002	0.62929	D	0.101163	0.999931	0.51612	D	2.125	0.59049	M	2.69	0.12268	T	-4.08	0.74742	D	0.521	0.55106	-1.1153	0.02651	T	0.030	0.12804	T	10	0.013062209	0.00278	T	0.009355	0.24530	T	0.074	0.21613	.	.	0.397540356873	0.39371	0.4243354505013524	0.42350	0.06861527833	0.07686	0.591746628284	0.51740	T	0.176925	0.52704	T	-0.421693	0.01668	T	-0.376175	0.36169	T	0.120280908326679	0.14458	T	0.778122	0.41194	T	0.33969858	0.56255	0.34732798	0.60388	0.33969858	0.56255	0.34732798	0.60388	-10.405	0.76299	D	.	.	0.086	0.11893	B	.;.	.;.	3.698224	0.52727	23.3	0.9948059827349659	0.66850	0.98438	0.82779	D	AEFGBI	0.534139	0.55330	D	0.253165358972408	0.53794	3.547028	0.349640544857432	0.58487	4.019346	0.999998872655622	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	5.000000	0.63685	9.205000	0.79205	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	13.288	0.59690	804	0.43891	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1139.98	36	chr4	75975768	.	A	G	1139.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=797;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=0.481;SOR=0.745	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1150	20	0	1	0
chr4	75981403	75981403	T	A	exonic	SDAD1	.	nonsynonymous SNV	SDAD1:NM_001288983:exon3:c.A263T:p.N88I	.	.	427	1094	1	0	0	1	0.00045683	.	.	3480307	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.841	P	0.532	P	0.000	D	0.856	D	2.07	M	2.59	T	-1.032	T	0.057	T	0.41	4.369	23.0	5.36	2.016	7.264	13.306	0.168	0.0179162479236	.	0.000599042	9.064e-05	0	0	0	0	0	0	0.0007	9.06e-05	14	154602	rs150774938	5.61e-05	5.609e-05	3.131e-05	8.114e-05	0.0009	4.611e-05	4.237e-05	0.0008	0.0007	0	0	0	0	0	0	0	4.969e-05	0.0009	7.221e-05	7.218e-05	1.285e-05	0.0001	0.0023	3.968e-05	3.125e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.005	0.63226	D	0.003	0.76473	D	0.841	0.46518	P	0.532	0.48601	P	0.000007	0.62929	D	0.141089	0.855867	0.35301	D	2.625	0.76847	M	2.59	0.13317	T	-2.66	0.56945	D	0.618	0.63459	-1.0320	0.19809	T	0.057	0.23866	T	10	0.1422495	0.27021	T	0.017916	0.39803	T	0.168	0.42943	0.637	0.77361	0.428976297845	0.42518	0.43920713489414054	0.43837	0.150631875348	0.16989	0.535908162594	0.43868	T	0.167482	0.51413	T	-0.37503	0.03347	T	-0.372079	0.36647	T	0.187377121310227	0.19689	T	0.962504	0.86559	D	0.36879066	0.58495	0.26846153	0.52715	0.36879066	0.58495	0.26846153	0.52714	-11.317	0.81368	D	.	.	0.214	0.47150	B	.;.	.;.	3.920273	0.57225	23.8	0.99208115576207045	0.55503	0.98375	0.82137	D	AEFBI	0.816658	0.73833	D	0.552911808860178	0.70258	5.475442	0.58251921208654	0.73686	6.011457	0.999906449252612	0.45458	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	5.36	0.76624	7.085000	0.76547	7.862000	0.71495	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.836000	0.39433	0.0:0.0:0.0:1.0	13.306	0.59789	900	0.24599	Uncharacterised domain NUC130/133, N-terminal;Uncharacterised domain NUC130/133, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1662.98	34	chr4	75981403	.	T	A	1662.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=832;ExcessHet=0.0000;FS=2.018;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=1.15;SOR=0.868	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1231	20	0	1	0
chr4	76163299	76163299	T	C	exonic	SCARB2	.	nonsynonymous SNV	SCARB2:NM_001204255:exon8:c.A895G:p.I299V	Epilepsy, progressive myoclonic 4, with or without renal failure, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.092	B	0.03	B	0.003	N	0.808	D	0.65	N	-0.57	T	-0.943	T	0.158	T	0.098	2.445	14.13	-1.24	-0.464	0.143	11.207	0.084	0.0163561709268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.2	0.27591	T	0.001	0.07471	B	0.014	0.16862	B	0.003161	0.35359	N	0.340549	0.808271	0.34605	D	1.215	0.30540	L	-0.57	0.71307	T	-0.56	0.17003	N	0.18	0.21319	-0.9428	0.42169	T	0.158	0.49161	T	10	0.12013167	0.22748	T	0.016356	0.37579	T	0.084	0.24469	0.581	0.70733	0.558735321446	0.55534	0.6026462612619176	0.60195	0.207193284958	0.23165	0.39371034503	0.24192	T	0.151643	0.49168	T	-0.160665	0.26657	T	-0.46856	0.25671	T	0.164366632699966	0.18188	T	0.80392	0.46941	T	0.028097594	0.02097	0.05270045	0.08736	0.028097594	0.02097	0.05270045	0.08735	-3.513	0.16614	T	0.1675145725765002	0.20893	0.092	0.14933	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.333185	0.17389	13.13	0.97052108408720261	0.32155	0.55485	0.29876	D	AEFBI	0.096940	0.19561	N	-0.615103842216773	0.18490	0.9603645	-0.488416892107476	0.22472	1.220722	0.0637386808472868	0.15306	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.87	-1.24	0.08948	0.426000	0.21081	-0.621000	0.08173	0.651000	0.53179	0.998000	0.41325	0.000000	0.08366	0.985000	0.61073	0.0:0.1946:0.0:0.8054	11.207	0.48001	883	0.28872	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	56.98	33	chr4	76163299	.	T	C	56.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.230e+00;DP=908;ExcessHet=0.0000;FS=54.076;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.59;ReadPosRankSum=0.136;SOR=5.547	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1218	20	0	1	0
chr4	76166260	76166260	T	A	exonic	SCARB2	.	nonsynonymous SNV	SCARB2:NM_001204255:exon7:c.A800T:p.Y267F	Epilepsy, progressive myoclonic 4, with or without renal failure, Autosomal recessive	.	1	1518	3	0	0	3	0.000987167	.	.	520502	Progressive_myoclonic_epilepsy	MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.013	B	0.058	B	0.000	D	1.000	D	1.47	L	-0.61	T	-0.695	T	0.279	T	0.523	3.045	16.16	6.07	2.326	3.550	14.164	0.225	0.0181889289597	.	.	8.238e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs777270813	1.231e-05	1.231e-05	1.633e-05	8.25e-06	0.0003	7.7e-06	6.35e-06	0.0001	0.0001	0	0	0	0.0003	0	0	5.396e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	0.11050	T	0.551	0.12848	T	0.002	0.09854	B	0.03	0.21741	B	0.000005	0.62929	D	0.110934	0.999934	0.51612	D	1.235	0.30780	L	-0.61	0.71779	T	-1.3	0.34992	N	0.427	0.47765	-0.6951	0.60670	T	0.279	0.65109	T	10	0.43326747	0.57629	T	0.018189	0.40170	T	0.225	0.52323	0.797	0.91729	0.193865811164	0.18958	0.826242829663348	0.82582	0.223792437189	0.24896	0.517915844917	0.41332	T	0.234883	0.60201	T	-0.104615	0.35662	T	-0.218921	0.52840	T	0.376824302184032	0.28060	T	0.889011	0.67973	D	0.657118	0.75744	0.38668182	0.63554	0.657118	0.75746	0.38668182	0.63554	-4.131	0.25980	T	0.14011160077437554	0.15652	0.123	0.30920	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.252396	0.28770	17.91	0.96955385019923512	0.31755	0.93632	0.58750	D	AEFBI	0.475317	0.51921	N	0.0415018028291463	0.43753	2.66205	0.23485268371034	0.51793	3.358746	0.999999241073093	0.74766	0.744818	0.98587	0	0.732433	0.95613	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	3.760000	0.54947	4.155000	0.42174	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	14.164	0.65000	884	0.28482	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1270.98	33	chr4	76166260	.	T	A	1270.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.300e-01;DP=792;ExcessHet=0.0000;FS=3.720;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=-8.320e-01;SOR=0.406	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1229	20	0	1	0
chr4	76175822	76175822	C	T	exonic	SCARB2	.	nonsynonymous SNV	SCARB2:NM_001204255:exon3:c.G364A:p.V122I	Epilepsy, progressive myoclonic 4, with or without renal failure, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.001	B	0.007	B	0.278	N	1.000	N	0.455	N	-0.6	T	-0.976	T	0.176	T	0.04	1.765	11.86	-2.31	-0.439	-0.540	6.751	0.059	0.0225789332828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.209e-06	8.209e-06	9.529e-06	6.876e-06	1.079e-05	4.38e-06	3.46e-06	5.75e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.18889	T	0.236	0.27855	T	0.0	0.02946	B	0.002	0.06944	B	0.277640	0.03813	N	1.421770	0.999989	0.18198	N	0.735	0.18861	N	-0.6	0.71662	T	-0.39	0.15379	N	0.049	0.02088	-0.9761	0.35882	T	0.176	0.51990	T	10	0.10623419	0.19677	T	0.022579	0.45482	T	0.059	0.16972	0.433	0.48336	0.0884992946249	0.08302	0.41588603951190717	0.41504	0.191856434136	0.21512	0.302244067192	0.10736	T	0.146522	0.48417	T	-0.241394	0.15170	T	-0.584522	0.14143	T	0.0925009733836551	0.11511	T	0.663034	0.27879	T	0.071047485	0.15700	0.09018572	0.21134	0.071047485	0.15700	0.09018572	0.21134	-2.906	0.09203	T	0.08682732990898344	0.05038	0.073	0.06069	B	.;.;.;.;.;.	.;.;.;.;.;.	0.339546	0.07133	3.711	0.87735514052747121	0.17443	0.03248	0.08272	N	AEFBI	0.053492	0.09642	N	-0.859181918228057	0.11824	0.5728104	-0.805989154224796	0.14351	0.7493687	0.093703580052252	0.16188	0.736574	0.97449	0	0.743671	0.97443	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.34	-2.31	0.06380	-0.060000	0.11669	-1.623000	0.05040	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.952000	0.50033	0.0:0.2996:0.1253:0.5751	6.751	0.22674	890	0.26919	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1256.98	37	chr4	76175822	.	C	T	1256.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.380e-01;DP=810;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=-2.030e-01;SOR=0.624	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1122	20	0	1	0
chr4	76179654	76179654	T	C	exonic	SCARB2	.	nonsynonymous SNV	SCARB2:NM_005506:exon4:c.A475G:p.M159V,	Epilepsy, progressive myoclonic 4, with or without renal failure, Autosomal recessive	.	0	1483	38	1	0	40	0.0133067	.	.	201793	not_provided|Action_myoclonus-renal_failure_syndrome|Focal_segmental_glomerulosclerosis|not_specified|Inborn_genetic_diseases|Progressive_myoclonic_epilepsy	MedGen:C3661900|MONDO:MONDO:0009699,MeSH:D020191,MedGen:C0751779,OMIM:254900,Orphanet:163696|Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.46	T	0.0	B	0.002	B	0.128	N	1.000	N	0.345	N	-0.5	T	-1.072	T	0.081	T	0.028	0.565	7.056	-2.68	-0.036	-0.367	1.306	0.126	.	0.0086	0.00379393	0.0090	0.0021	0.0079	0	0.0089	0.0134	0.0121	0.0008	0.0084734	1310	154602	rs143655258	0.0093	0.0093	0.0093	0.0094	0.0255	0.0092	0.0091	0.0221	0.0209	0.0024	0.0081	0.0132	0.0001	0.0107	0.0255	0.0102	0.0104	0.0014	0.0084	0.0084	0.0085	0.0082	0.0126	0.0080	0.0078	0.0119	0.0116	0.0021	0	0.0091	0.0133	0.0002	0.0093	0.0238	0.0126	0.0137	0.0012	0.453	0.08917	T	0.312	0.19599	T	0.0	0.02946	B	0.002	0.06944	B	0.127953	0.18749	N	0.614874	1	0.19363	N	0.98	0.24916	L	-0.5	0.70480	T	-0.43	0.14390	N	0.107	0.09207	-1.0722	0.08936	T	0.081	0.31913	T	10	0.0043855906	0.00177	T	.	.	.	0.126	0.34673	.	.	0.398872588132	0.39498	0.5319715221617395	0.53122	0.241270319172	0.26655	0.28708845377	0.08500	T	0.117228	0.43716	T	-0.594187	0.00158	T	-0.614608	0.11613	T	0.000357449097651677	0.00003	T	0.644935	0.65058	T	0.094704784	0.22273	0.0792257	0.17815	0.1321169	0.30773	0.058689523	0.10888	-2.279	0.04441	T	0.09772531433022907	0.06908	0.077	0.07272	B	.;.;.;.;.;.	.;.;.;.;.;.	0.956027	0.13325	9.826	0.55732400439372587	0.05403	0.18572	0.20315	N	AEFDBHCI	0.108169	0.21528	N	-1.08282382720702	0.06960	0.3218974	-1.07108497941447	0.08273	0.4060693	0.999997896059296	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.688494	0.62686	0	0.714379	0.83352	0	.	.	5.95	-2.68	0.05686	-0.140000	0.10323	1.090000	0.23972	0.665000	0.62972	0.004000	0.16614	0.996000	0.32793	0.944000	0.48669	0.2969:0.0835:0.2595:0.3601	1.306	0.01963	892	0.26670	.;.;.;.;.;.	.	.	.	.	rs143655258	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.04762	2192.11	33	chr4	76179654	.	T	C	2192.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.110e-01;DP=914;ExcessHet=0.1072;FS=1.602;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.17;ReadPosRankSum=0.359;SOR=0.570	GT:AD:DP:GQ:PL	0/1:64,48:112:99:1086,0,1605	19	0	2	0
chr4	76179684	76179684	C	T	exonic	SCARB2	.	nonsynonymous SNV	SCARB2:NM_005506:exon4:c.G445A:p.V149M,	Epilepsy, progressive myoclonic 4, with or without renal failure, Autosomal recessive	.	2	1517	3	0	0	3	0.000987817	.	.	201794	SCARB2-related_disorder|Action_myoclonus-renal_failure_syndrome|Progressive_myoclonic_epilepsy|not_provided|Inborn_genetic_diseases|not_specified	.|MONDO:MONDO:0009699,MeSH:D020191,MedGen:C0751779,OMIM:254900,Orphanet:163696|MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.11	T	0.047	B	0.029	B	0.000	N	1.000	N	0	N	-0.59	T	-0.940	T	0.113	T	0.077	2.451	14.15	-6.54	-1.657	-0.906	8.422	0.082	0.0114500858662	0.0025	0.000998403	0.0021	0.0008	0.0016	0	0.0002	0.0031	0.0066	0.0004	0.001934	299	154602	rs147159813	0.0029	0.0029	0.0029	0.0028	0.0034	0.0028	0.0028	0.0033	0.0033	0.0005	0.0027	3.827e-05	0	0.0002	0.0026	0.0034	0.0032	0.0004	0.0022	0.0022	0.0022	0.0021	0.0052	0.0020	0.0019	0.0042	0.0039	0.0005	0	0.0052	0	0	0.0003	0.0102	0.0032	0.0033	0.0002	0.141	0.25560	T	0.227	0.25362	T	0.047	0.21998	B	0.029	0.21540	B	0.000037	0.00348	N	4.113450	1	0.08975	N	-0.345	0.03330	N	-0.59	0.71543	T	0.43	0.03297	N	0.192	0.21056	-0.9402	0.42584	T	0.113	0.40307	T	10	0.0034089088	0.00060	T	0.01145	0.29087	T	0.082	0.23913	.	.	0.248417906384	0.24464	0.2700136440655256	0.26914	0.238332228865	0.26378	0.287140756845	0.08508	T	0.081393	0.36587	T	-0.566851	0.00231	T	-0.586066	0.14009	T	0.00189818317467253	0.00019	T	0.672833	0.28129	T	0.118628524	0.27946	0.12776202	0.30749	0.118628524	0.27946	0.12776202	0.30748	-4.589	0.32033	T	0.09611518049538707	0.06615	0.128	0.29724	B	.;.;.;.;.	.;.;.;.;.	0.076011	0.04833	1.432	0.95104874609117007	0.26185	0.18012	0.20082	N	AEFBHCI	0.060632	0.11535	N	-1.43665833772221	0.02323	0.1024735	-1.49079410842702	0.02419	0.1112351	0.999999978334428	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.688494	0.62686	0	0.714379	0.83352	0	.	.	5.95	-6.54	0.01692	-0.696000	0.05205	-0.104000	0.11907	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.087000	0.17632	0.0:0.2281:0.2193:0.5526	8.422	0.31871	892	0.26670	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	1257.98	33	chr4	76179684	.	C	T	1257.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.365e+00;DP=805;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=-1.196e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr4	76213464	76213464	C	T	exonic	SCARB2	.	nonsynonymous SNV	SCARB2:NM_001204255:exon1:c.G80A:p.R27Q	Epilepsy, progressive myoclonic 4, with or without renal failure, Autosomal recessive	.	0	1515	7	0	0	7	0.00230491	.	.	201798	not_provided|Inborn_genetic_diseases|Progressive_myoclonic_epilepsy|Childhood_epilepsy_with_centrotemporal_spikes|not_specified	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261|MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.31	T	0.998	D	0.988	D	0.141	N	0.870	N	0.09	N	-0.58	T	-0.735	T	0.299	T	0.748	2.893	15.64	4.62	2.411	1.530	12.822	0.370	0.0900206137417	7.7e-05	.	0.0002	0	0	0	0	0.0002	0.0032	0.0002	0.0001294	20	154602	rs368906199	0.0002	0.0002	0.0002	0.0002	0.0120	0.0002	0.0002	0.0097	0.0089	5.984e-05	6.779e-05	0.0020	0	0	0.0120	8.376e-05	0.0005	0.0002	9.196e-05	9.192e-05	6.421e-05	0.0001	0.0002	5.526e-05	4.363e-05	5.841e-05	4.238e-05	2.412e-05	0	0	0.0012	0	0	0	0.0001	0	0.0002	0.679	0.05121	T	0.692	0.08332	T	0.568	0.38507	P	0.083	0.29179	B	0.141406	0.18277	N	0.580589	0.870411	0.35552	D	0.675	0.16386	N	-0.58	0.71425	T	0.07	0.06138	N	0.326	0.49420	-0.7352	0.58700	T	0.299	0.67036	T	10	0.077613324	0.12270	T	0.090021	0.75438	D	0.370	0.68930	.	.	0.69196344514	0.68931	0.16489523423882382	0.16409	0.321751381085	0.34373	0.448234736919	0.31703	T	0.08167	0.36652	T	-0.0556206	0.43588	T	-0.0810031	0.64830	T	0.134703749527047	0.15810	T	0.907809	0.70989	D	0.16476555	0.36705	0.15431039	0.36221	0.16476555	0.36705	0.15431039	0.36220	-2.935	0.14936	T	0.08221634980531804	0.04322	0.112	0.26451	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.070587	0.41274	21.3	0.99713872933179437	0.81563	0.43081	0.27019	N	ALL	0.284224	0.39714	N	0.10683354842216	0.46782	2.913309	0.20332395547603	0.50031	3.19952	0.999999999830712	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.62	4.62	0.56946	1.119000	0.30872	3.825000	0.39969	0.596000	0.33519	0.960000	0.33603	0.999000	0.35428	0.998000	0.85391	0.0:1.0:0.0:0.0	12.822	0.57079	891	0.26808	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	805.98	34	chr4	76213464	.	C	T	805.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.42;DP=810;ExcessHet=0.0000;FS=1.779;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.98;ReadPosRankSum=1.27;SOR=0.991	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1045	20	0	1	0
chr4	76741208	76741208	C	A	exonic	SHROOM3	.	nonsynonymous SNV	SHROOM3:NM_020859:exon5:c.C3035A:p.T1012N,	.	.	416	1072	30	4	0	38	0.0174152	.	.	1195967	SHROOM3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.984	D	0.773	P	0.042	N	1.000	N	2.705	M	0.34	T	-0.855	T	0.143	T	0.186	1.623	11.39	0.952	-0.166	3.059	5.749	0.164	.	0.0053	0.00399361	0.0108	0.0029	0.0116	0	0.0073	0.0157	0.0091	0.0025	0.0058085	898	154602	rs147732653	0.0079	0.0079	0.0079	0.0078	0.0182	0.0078	0.0077	0.0154	0.0143	0.0022	0.0061	0.0106	2.538e-05	0.0035	0.0182	0.0089	0.0076	0.0027	0.0069	0.0069	0.0072	0.0065	0.0102	0.0065	0.0064	0.0096	0.0093	0.0019	0.0910	0.0062	0.0101	0	0.0029	0.0068	0.0102	0.0057	0.0031	0.001	0.78490	D	0.012	0.63918	D	0.984	0.60733	D	0.773	0.56974	P	0.041546	0.23937	N	0.340109	0.999994	0.08975	N	3.185	0.88900	M	0.34	0.58176	T	-3.84	0.72240	D	0.192	0.21056	-0.8547	0.51641	T	0.143	0.46404	T	10	0.0043590963	0.00089	T	.	.	.	0.164	0.42212	.	.	0.637225044583	0.63424	0.512869637631478	0.51208	0.411460119026	0.41898	0.801779985428	0.82234	T	0.488677	0.81421	T	-0.414511	0.01856	T	-0.358798	0.38191	T	0.0948631797115012	0.11782	T	0.668933	0.27951	T	0.53986067	0.69389	0.3622313	0.61632	0.53986067	0.69390	0.3622313	0.61632	-10.292	0.75642	D	.	.	0.202	0.42606	B	.;.	.;.	2.691383	0.35134	19.82	0.95082975117599788	0.26136	0.89839	0.50567	D	AEFDBI	0.232881	0.35589	N	0.056243779734306	0.44431	2.717215	-0.150118930678099	0.33403	1.910418	0.999976932169537	0.50053	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.74	0.952	0.18708	3.170000	0.50516	1.998000	0.30109	0.522000	0.23927	0.991000	0.37257	0.959000	0.29258	0.798000	0.37648	0.136:0.6392:0.0:0.2248	5.749	0.17404	583	0.69484	Apx/Shrm Domain 1|Apx/Shrm Domain 1;Apx/Shrm Domain 1|Apx/Shrm Domain 1	.	.	.	.	rs147732653	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1381.98	43	chr4	76741208	.	C	A	1381.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.90;DP=955;ExcessHet=0.0000;FS=2.868;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.88;ReadPosRankSum=3.16;SOR=1.029	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1416	20	0	1	0
chr4	76755002	76755002	G	A	exonic	SHROOM3	.	nonsynonymous SNV	SHROOM3:NM_020859:exon7:c.G4519A:p.E1507K,	.	.	386	1135	1	0	0	1	0.000440335	.	.	721071	not_provided|SHROOM3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.734	P	0.000	D	0.994	D	1.845	L	1.8	T	-1.024	T	0.115	T	0.352	2.959	15.86	5.49	2.865	5.847	17.744	0.231	0.0231409880972	0.0012	0.000199681	0.0017	9.636e-05	0.0002	0	0.0015	0.0028	0.0011	0.0003	0.0016623	257	154602	rs141646361	0.0018	0.0018	0.0019	0.0017	0.0021	0.0017	0.0017	0.0020	0.0020	0.0002	0.0003	0	2.521e-05	0.0027	0.0007	0.0021	0.0017	0.0002	0.0014	0.0014	0.0014	0.0013	0.0023	0.0012	0.0012	0.0020	0.0019	0.0004	0	0.0004	0	0	0.0022	0.0034	0.0023	0	0.0008	0.002	0.72154	D	0.054	0.47097	T	0.999	0.77913	D	0.734	0.55432	P	0.000206	0.47681	D	0.142715	0.993924	0.42100	D	1.935	0.51832	L	1.8	0.25344	T	-1.93	0.44852	N	0.271	0.30687	-1.0244	0.22279	T	0.115	0.40853	T	10	0.012893945	0.00275	T	0.023141	0.46083	T	0.231	0.53208	.	.	0.2338531098	0.23012	0.38068514091334954	0.37983	0.978205654084	0.73632	0.373410224915	0.21320	T	0.142335	0.47786	T	-0.418471	0.01749	T	-0.371546	0.36708	T	0.057432938440988	0.06758	T	0.839916	0.51465	T	0.26734295	0.49806	0.26779518	0.52641	0.26734295	0.49805	0.26779518	0.52640	-4.07	0.24846	T	.	.	0.264	0.53308	B	.;.	.;.	3.315145	0.45565	22.2	0.99706015052941466	0.81005	0.95491	0.64932	D	AEFBCI	0.672876	0.63912	D	0.422916619046015	0.62685	4.488469	0.342149706222128	0.58037	3.971978	0.999999999537614	0.74766	0.67177	0.52595	0	0.610034	0.51514	0	0.702456	0.68683	0	0.669	0.65921	0	.	.	5.49	5.49	0.81022	5.928000	0.69808	9.925000	0.82535	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.003000	0.05239	0.0:0.0:1.0:0.0	17.744	0.88325	735	0.53711	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3602.98	42	chr4	76755002	.	G	A	3602.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.90;DP=1053;ExcessHet=0.0000;FS=8.961;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=-5.080e-01;SOR=1.188	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr4	76778813	76778813	C	G	exonic	SHROOM3	.	nonsynonymous SNV	SHROOM3:NM_020859:exon11:c.C5627G:p.S1876C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	2.08	M	1.39	T	-0.662	T	0.229	T	0.454	3.199	16.71	5.1	2.664	4.313	18.710	0.273	0.0319539014024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	2.052e-06	2.726e-06	1.377e-06	.	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	0	4.981e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.997	0.86255	D	0.000125	0.49741	D	0.087556	0.999771	0.48980	D	2.375	0.68372	M	1.39	0.33842	T	-4.06	0.74582	D	0.4	0.44090	-0.6620	0.62188	T	0.229	0.59447	T	10	0.59825563	0.66765	D	0.031954	0.53910	D	0.273	0.58883	0.578	0.70347	0.289027227714	0.28505	0.3124690685352161	0.31159	1.02529329724	0.75255	0.562951624393	0.47684	T	0.29403	0.66672	T	-0.0405544	0.45866	T	-0.29603	0.45141	T	0.994166374206543	0.85300	D	0.920008	0.71084	D	0.48425344	0.66157	0.3684818	0.62137	0.48425344	0.66158	0.3684818	0.62137	-8.359	0.63491	D	.	.	0.114	0.24934	B	.;.	.;.	3.834066	0.55435	23.6	0.99139464395587895	0.53491	0.98914	0.88555	D	AEFBI	0.731266	0.67840	D	0.547794251636959	0.69948	5.430169	0.483533915266744	0.66900	5.012524	0.999999997574727	0.74766	0.732398	0.92422	0	0.610034	0.51514	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.1	5.1	0.68917	4.557000	0.60491	3.991000	0.40989	0.549000	0.26987	0.868000	0.30757	0.999000	0.35428	0.482000	0.28611	0.0:1.0:0.0:0.0	18.710	0.91617	769	0.49307	Apx/Shrm Domain 2|Apx/Shrm Domain 2;Apx/Shrm Domain 2|Apx/Shrm Domain 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1441.98	36	chr4	76778813	.	C	G	1441.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.360e-01;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=0.369;SOR=0.722	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1246	20	0	1	0
chr4	78237592	78237592	G	A	exonic	FRAS1	.	nonsynonymous SNV	FRAS1:NM_001166133:exon3:c.G191A:p.R64K	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3159883	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.59	T	0.008	B	0.007	B	0.027	N	0.986	N	0	N	-0.09	T	-1.047	T	0.090	T	0.089	1.846	12.13	3.19	1.365	0.799	7.027	0.089	0.00911734882839	.	.	0.0001	0	0	0	0	0	0	0.0010	9.7e-05	15	154602	rs775743730	3.84e-05	3.899e-05	1.501e-05	6.204e-05	0.0006	3.033e-05	2.726e-05	0.0005	0.0004	0	0	0	0	0	0.0002	0	3.32e-05	0.0006	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.393	0.10730	T	0.877	0.03250	T	.	.	.	.	.	.	0.027064	0.25817	N	0.407010	0.98555	0.24700	N	0.38	0.12130	N	-0.09	0.64086	T	-0.36	0.13035	N	0.129	0.12913	-1.0474	0.15130	T	0.090	0.34546	T	10	0.038788795	0.02321	T	0.009117	0.23988	T	0.089	0.25827	0.487	0.57098	0.426084969639	0.42228	0.6420185852228593	0.64136	.	.	0.423288553953	0.28289	T	.	.	.	-0.46735	0.00883	T	-0.532038	0.19083	T	0.037186639842617	0.03188	T	0.519248	0.20051	T	.	.	.	.	.	.	.	.	-1.76	0.02392	T	.	.	0.088	0.11893	B	.;.	.;.	2.176812	0.27743	17.57	0.95945232398814939	0.28256	0.49649	0.28481	N	AEFDBHCI	0.092737	0.18770	N	-0.477040211253998	0.22836	1.222079	-0.260856194041463	0.29399	1.646803	0.999801765529348	0.43304	0.736574	0.97449	0	0.573888	0.26702	0	0.732669	0.93749	0	0.564101	0.26826	0	.	.	5.35	3.19	0.35720	0.148000	0.16042	4.740000	0.44601	0.618000	0.50648	0.994000	0.38300	1.000000	0.68203	0.999000	0.91618	0.3078:0.0:0.6922:0.0	7.027	0.24126	912	0.21483	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	780.98	33	chr4	78237592	.	G	A	780.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.896;DP=765;ExcessHet=0.0000;FS=0.971;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.80;ReadPosRankSum=-1.821e+00;SOR=0.656	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1128	20	0	1	0
chr4	78317466	78317466	C	T	exonic	FRAS1	.	nonsynonymous SNV	FRAS1:NM_001166133:exon17:c.C1918T:p.R640C	Fraser syndrome, Autosomal recessive	.	1	1513	8	0	0	8	0.00263678	.	.	892241	not_provided|not_specified|FRAS1-related_disorder|Fraser_syndrome_1	MedGen:C3661900|MedGen:CN169374|.|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000,Orphanet:2052	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.96	D	0.411	B	0.796	N	1.000	N	0.465	N	-1.01	T	-0.826	T	0.228	T	0.491	1.582	11.24	-1.2	-0.133	0.622	5.827	0.201	0.0699068688237	0.0009	0.000798722	0.0008	0.0001	0.0003	0.0002	0	0.0012	0.0011	0.0003	0.0007827	121	154602	rs147869493	0.0010	0.0010	0.0010	0.0010	0.0043	0.0010	0.0009	0.0030	0.0026	0.0001	0.0007	0	0.0004	5.627e-05	0.0043	0.0012	0.0009	0.0003	0.0008	0.0008	0.0009	0.0007	0.0014	0.0007	0.0006	0.0012	0.0011	0.0001	0	0.0005	0	0.0010	9.411e-05	0	0.0014	0.0005	0.0004	0.047	0.40319	D	0.057	0.47097	T	.	.	.	.	.	.	0.796378	0.09358	N	0.918385	1	0.08975	N	0.295	0.10161	N	-1.01	0.76168	T	-1.89	0.44094	N	0.199	0.25622	-0.8256	0.53582	T	0.228	0.59271	T	10	0.03279987	0.01440	T	0.069907	0.70860	D	0.326	0.64826	.	.	0.544870321563	0.54141	0.4253693797688576	0.42453	.	.	0.209402009845	0.00786	T	.	.	.	-0.326085	0.06412	T	-0.276553	0.47157	T	0.043810415816658	0.04386	T	0.505249	0.17709	T	.	.	.	.	.	.	.	.	-6.595	0.51015	T	.	.	0.224	0.45569	B	.;.	.;.	2.432255	0.31291	18.70	0.9933660751448754	0.60012	0.02420	0.06838	N	AEFBI	0.050154	0.08739	N	-0.80201424346308	0.13258	0.6518903	-0.915746567136476	0.11722	0.5989557	0.0639358085333228	0.15312	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.71	-1.2	0.09062	0.550000	0.23052	0.871000	0.22313	-0.218000	0.08083	0.000000	0.06391	0.000000	0.08366	0.084000	0.17470	0.2208:0.5064:0.2728:0.0	5.827	0.17814	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	842.98	36	chr4	78317466	.	C	T	842.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.958;DP=823;ExcessHet=0.0000;FS=1.736;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.37;ReadPosRankSum=-5.390e-01;SOR=0.495	GT:AD:DP:GQ:PL	0/1:52,38:90:99:857,0,1203	20	0	1	0
chr4	78374165	78374165	A	C	exonic	FRAS1	.	nonsynonymous SNV	FRAS1:NM_001166133:exon25:c.A3065C:p.K1022T	Fraser syndrome, Autosomal recessive	.	1	1511	9	1	0	11	0.00362677	.	.	691609	FRAS1-related_disorder|Inborn_genetic_diseases|Fraser_syndrome_1|not_provided	.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000,Orphanet:2052|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.15	T	0.005	B	0.016	B	0.000	D	1.000	D	0.18	N	-1.04	T	-0.730	T	0.261	T	0.29	2.009	12.68	5.94	2.275	6.413	16.069	0.302	0.0174386683802	0.0002	0.000998403	0.0009	0	0.0008	0	0	0.0005	0.0022	0.0038	0.0007827	121	154602	rs201252328	0.0005	0.0005	0.0004	0.0007	0.0042	0.0005	0.0005	0.0038	0.0037	5.986e-05	0.0005	0.0008	0	1.882e-05	0.0028	0.0003	0.0005	0.0042	0.0004	0.0004	0.0004	0.0004	0.0035	0.0003	0.0003	0.0022	0.0018	2.406e-05	0	0.0005	0.0020	0	0	0.0068	0.0004	0	0.0035	0.183	0.21718	T	0.02	0.58613	D	.	.	.	.	.	.	0.000009	0.62929	D	0.112241	0.995851	0.23183	N	0.545	0.13751	N	-1.04	0.76561	T	-1.5	0.36586	N	0.211	0.23506	-0.7302	0.58953	T	0.261	0.63219	T	10	0.006578952	0.00149	T	0.017439	0.39139	T	0.302	0.62290	.	.	0.648203075438	0.64528	0.3444606550941687	0.34360	.	.	0.391649365425	0.23902	T	.	.	.	-0.350747	0.04680	T	-0.279336	0.46872	T	0.040619998903745	0.03803	T	0.324568	0.07588	T	.	.	.	.	.	.	.	.	-3.732	0.19791	T	.	.	0.124	0.26700	B	.;.	.;.	3.120494	0.42125	21.5	0.98598656484140901	0.43480	0.98705	0.85807	D	AEFBI	0.659654	0.63049	D	-0.185918385445342	0.33719	1.916303	0.010065567058872	0.40182	2.393944	0.99999999714086	0.74766	0.67177	0.52595	0	0.59043	0.45803	0	0.702456	0.68683	0	0.620846	0.47308	0	.	.	5.94	5.94	0.96165	6.582000	0.73941	8.080000	0.76477	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.144000	0.20092	1.0:0.0:0.0:0.0	16.069	0.80716	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1329.98	33	chr4	78374165	.	A	C	1329.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.055e+00;DP=829;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.39;ReadPosRankSum=-6.700e-02;SOR=0.645	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr4	78421883	78421883	C	G	exonic	FRAS1	.	nonsynonymous SNV	FRAS1:NM_001166133:exon34:c.C4561G:p.H1521D	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.033	B	0.021	B	0.012	N	1.000	D	0.205	N	0.96	T	-1.085	T	0.060	T	0.116	1.860	12.18	4.89	2.746	5.522	11.353	0.047	0.0048832159345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.003	0.79402	D	.	.	.	.	.	.	0.011870	0.29372	N	0.370050	0.922299	0.27264	N	0.345	0.11182	N	0.96	0.42888	T	-2.3	0.51157	N	0.197	0.21710	-1.0852	0.06371	T	0.060	0.24981	T	10	0.18576771	0.34012	T	0.004883	0.12255	T	0.047	0.12962	0.247	0.18293	0.533179623451	0.52966	0.362556992458954	0.36169	.	.	0.22927890718	0.01915	T	.	.	.	-0.223453	0.17525	T	-0.558751	0.16493	T	0.521083891391754	0.33405	D	0.764923	0.46649	T	.	.	.	.	.	.	.	.	-3.893	0.32147	T	.	.	0.145	0.32079	B	.;.	.;.	2.430959	0.31276	18.69	0.98311203731865371	0.40144	0.90728	0.52149	D	AEFBI	0.674669	0.64031	D	-0.19537441121222	0.33327	1.889465	-0.00219818898038289	0.39616	2.351646	0.718570249897726	0.22904	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.564101	0.26826	0	.	.	5.81	4.89	0.63387	4.505000	0.60141	1.786000	0.28758	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.369000	0.26088	0.3748:0.6252:0.0:0.0	11.353	0.48837	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	33.98	84	chr4	78421883	.	C	G	33.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.060e+00;DP=985;ExcessHet=0.0000;FS=40.296;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.37;ReadPosRankSum=1.54;SOR=5.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1323	20	0	1	0
chr4	78499901	78499901	G	A	exonic	FRAS1	.	nonsynonymous SNV	FRAS1:NM_025074:exon61:c.G9296A:p.R3099Q,	Fraser syndrome, Autosomal recessive	YES	0	1490	30	2	0	34	0.0112807	.	.	691618	FRAS1-related_disorder|Fraser_syndrome_1|Inborn_genetic_diseases|not_provided|not_specified	.|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000,Orphanet:2052|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.997	D	0.000	D	1.000	D	0.765	N	1.72	T	-1.058	T	0.117	T	0.882	4.200	21.8	5.91	2.802	9.727	20.298	0.303	0.0257026602405	0.0006	0.00119808	0.0014	0	0.0012	0.0001	0.0002	0.0013	0.0011	0.0042	0.0012484	193	154602	rs149692526	0.0008	0.0008	0.0007	0.0009	0.0123	0.0008	0.0007	0.0100	0.0091	9.146e-05	0.0010	0.0061	2.572e-05	3.809e-05	0.0123	0.0004	0.0015	0.0036	0.0009	0.0009	0.0008	0.0009	0.0046	0.0008	0.0007	0.0031	0.0026	7.216e-05	0	0.0011	0.0098	0	0	0.0238	0.0007	0.0024	0.0046	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000001	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.811	0.80669	-1.0577	0.12337	T	0.117	0.41253	T	10	0.020795912	0.00485	T	0.025703	0.48656	D	.	.	.	.	0.760667659914	0.75848	0.39087212594723714	0.39002	.	.	0.711399674416	0.68796	T	.	.	.	0.0934964	0.63581	D	0.35816	0.90632	D	0.0831080965044587	0.10380	T	0.914509	0.69499	D	.	.	.	.	.	.	.	.	-7.028	0.54238	T	.	.	0.087	0.11076	B	.	.	5.329954	0.89445	30	0.99936628813346795	0.99621	0.99074	0.90844	D	AEFBI	0.879822	0.80603	D	0.476479058648868	0.65720	4.858043	0.561012832698401	0.72167	5.767316	0.999999999143538	0.74766	0.732398	0.92422	0	0.547309	0.14657	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	5.91	5.91	0.95240	9.860000	0.98420	9.886000	0.82236	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.682000	0.33600	0.0:0.0:1.0:0.0	20.298	0.98571	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	574.98	36	chr4	78499901	.	G	A	574.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=773;ExcessHet=0.0000;FS=2.843;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.74;ReadPosRankSum=0.268;SOR=1.201	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr4	78507550	78507550	C	T	exonic	FRAS1	.	nonsynonymous SNV	FRAS1:NM_025074:exon62:c.C9446T:p.T3149M,	Fraser syndrome, Autosomal recessive	.	0	1490	30	2	0	34	0.0112807	.	.	691619	not_specified|not_provided|Fraser_syndrome_1|FRAS1-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000,Orphanet:2052|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.965	D	0.000	D	1.000	D	1.1	L	-1.26	T	-0.025	T	0.486	T	0.88	3.142	16.51	5.11	2.552	3.096	13.238	0.557	0.0343286975373	0.0006	0.00119808	0.0014	0.0003	0.0012	0	0.0002	0.0013	0.0011	0.0038	0.0012872	199	154602	rs150680111	0.0008	0.0008	0.0007	0.0009	0.0122	0.0008	0.0008	0.0099	0.0090	0.0005	0.0009	0.0062	0	1.874e-05	0.0122	0.0005	0.0015	0.0037	0.0009	0.0009	0.0009	0.0010	0.0044	0.0008	0.0008	0.0029	0.0024	0.0003	0	0.0011	0.0098	0	0	0.0172	0.0007	0.0028	0.0044	.	.	.	0.003	0.76473	D	.	.	.	.	.	.	0.000047	0.53742	D	0.123342	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.624	0.63883	-0.0249	0.81738	T	0.486	0.80431	T	10	0.014242351	0.00300	T	0.034329	0.55601	D	.	.	.	.	0.492475246742	0.48882	0.44849865841205155	0.44767	.	.	0.508672654629	0.40037	T	.	.	.	0.0373262	0.56693	T	0.277162	0.86970	D	0.0955655127763748	0.11862	T	0.940906	0.77861	D	.	.	.	.	.	.	.	.	-6.48	0.50132	T	.	.	0.083	0.09045	B	.	.	4.239587	0.64268	24.7	0.99857658900140112	0.93639	0.90348	0.51452	D	AEFBI	0.428277	0.49187	N	0.396309557505898	0.61221	4.320375	0.381480110657096	0.60424	4.229774	0.999997224973728	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	5.11	5.11	0.69188	3.140000	0.50281	4.019000	0.41233	0.549000	0.26987	0.989000	0.36753	0.989000	0.31174	0.385000	0.26447	0.0:0.9231:0.0:0.0769	13.238	0.59410	906	0.23090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1350.98	40	chr4	78507550	.	C	T	1350.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.579;DP=841;ExcessHet=0.0000;FS=2.346;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.26;ReadPosRankSum=-3.500e-01;SOR=0.941	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1195	20	0	1	0
chr4	78579081	78579081	G	A	exonic	ANXA3	.	nonsynonymous SNV	ANXA3:NM_005139:exon4:c.G158A:p.R53Q,	.	.	434	1082	6	0	0	6	0.00276498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.978	D	0.001	D	1.000	D	3.885	H	3.75	T	-0.928	T	0.077	T	0.57	3.137	16.49	3.61	1.504	3.654	11.272	0.215	0.0123753934756	0.0013	0.000399361	0.0014	0.0003	0.0004	0	0.0006	0.0023	0	6.067e-05	0.0013066	202	154602	rs146728751	0.0018	0.0018	0.0019	0.0017	0.0050	0.0017	0.0017	0.0036	0.0031	0.0002	0.0008	0.0046	0	0.0014	0.0050	0.0020	0.0019	0.0002	0.0015	0.0015	0.0016	0.0014	0.0024	0.0014	0.0013	0.0021	0.0020	0.0003	0	0.0009	0.0058	0	0.0016	0.0034	0.0024	0.0019	0	0.001	0.78490	D	0.013	0.79402	D	0.999	0.77913	D	0.978	0.74104	D	0.000537	0.43581	D	0.136023	0.999893	0.50595	D	4.005	0.96783	H	3.75	0.03922	T	-3.45	0.73267	D	0.619	0.63544	-0.9279	0.44444	T	0.077	0.30798	T	10	0.017667234	0.00379	T	0.012375	0.30882	T	0.215	0.50805	.	.	0.580574400314	0.57728	0.8900163800946528	0.88971	0.554809453222	0.52205	0.343256652355	0.16924	T	0.256375	0.62728	T	-0.380628	0.03088	T	-0.324138	0.42119	T	0.123285253386105	0.14747	T	0.991801	0.97673	D	0.92436403	0.93675	0.8403524	0.90861	0.92436403	0.93676	0.8403524	0.90862	-11.623	0.82967	D	.	.	0.56	0.67458	A	.;.;.;.;.;.	.;.;.;.;.;.	4.175347	0.62817	24.5	0.99946160671355	0.99901	0.90413	0.51569	D	AEFBI	0.408327	0.48005	N	0.641288225760987	0.75806	6.371536	0.479600356199018	0.66638	4.978411	0.999498450890488	0.40007	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.36	3.61	0.40494	3.113000	0.50069	9.402000	0.80650	0.618000	0.50648	0.948000	0.32982	1.000000	0.68203	0.207000	0.22098	0.1542:0.0:0.8458:0.0	11.272	0.48377	848	0.35897	Annexin repeat, conserved site;.;.;Annexin repeat, conserved site;Annexin repeat, conserved site;Annexin repeat, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	612.98	33	chr4	78579081	.	G	A	612.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.608;DP=746;ExcessHet=0.0000;FS=2.047;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.15;ReadPosRankSum=-2.397e+00;SOR=0.985	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1090	20	0	1	0
chr4	78847258	78847258	G	A	exonic	BMP2K	.	nonsynonymous SNV	BMP2K:NM_017593:exon6:c.G739A:p.A247T	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.994	D	0.000	D	1.000	D	1.205	L	2.01	T	-1.035	T	0.111	T	0.817	4.822	27.3	5.19	2.588	7.731	18.728	0.415	0.0308610240097	.	0.000199681	4.196e-05	9.879e-05	0	0	0	0	0.0011	0.0002	3.88e-05	6	154602	rs560393905	2.917e-05	2.941e-05	2.075e-05	3.767e-05	0.0004	2.184e-05	1.937e-05	0.0002	0.0001	3.089e-05	0	0	0	0	0.0004	1.364e-05	3.384e-05	0.0003	3.303e-05	3.284e-05	1.292e-05	5.406e-05	0.0002	1.266e-05	8.02e-06	1.981e-05	1.13e-05	0	0	0	0	0	0	0	5.918e-05	0	0.0002	0.002	0.78490	D	0.003	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000003	0.62929	D	0.058964	1	0.81001	D	0.56	0.15190	N	2.01	0.21291	T	-3.72	0.71882	D	0.935	0.95841	-1.0352	0.18794	T	0.111	0.39794	T	10	0.71877545	0.73522	D	0.030861	0.53076	D	0.415	0.72555	0.624	0.75916	0.327952845175	0.32413	0.8136626316342199	0.81322	0.416527251118	0.42292	0.852106571198	0.89932	D	0.063152	0.32101	T	-0.0771398	0.40177	T	-0.0841541	0.64598	T	0.60280139358676	0.36511	D	0.948605	0.80233	D	0.7957907	0.83638	0.6959665	0.82098	0.7957907	0.83640	0.6959665	0.82099	-13.745	0.93840	D	.	.	0.465	0.62951	A	.;.;.	.;.;.	5.309198	0.89129	29.9	0.99902071293364358	0.97350	0.98849	0.87668	D	AEFBI	0.862669	0.78101	D	0.71849890757168	0.80845	7.385478	0.729986470586417	0.84655	8.352973	0.999999765864302	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	7.836000	0.85003	11.746000	0.95299	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.728	0.91686	533	0.73433	.;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	247.98	29	chr4	78847258	.	G	A	247.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.700e-02;DP=553;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=1.08;SOR=0.551	GT:AD:DP:GQ:PL	0/0:18,0:18:54:0,54,497	20	0	1	0
chr4	78887246	78887246	A	G	exonic	BMP2K	.	nonsynonymous SNV	BMP2K:NM_198892:exon15:c.A2024G:p.E675G,	.	.	429	1077	15	1	0	17	0.00783049	.	.	2367501	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.42	T	0.998	D	0.82	P	0.003	N	1.000	D	1.52	L	2.26	T	-1.132	T	0.072	T	0.474	3.589	18.28	5.79	2.223	6.128	16.144	0.205	0.0245590713657	0.0007	0.000199681	0.0012	0	0.0002	0	0	0.0018	0.0029	0.0017	0.0008538	132	154602	rs200263125	0.0006	0.0006	0.0005	0.0007	0.0068	0.0006	0.0006	0.0051	0.0045	2.99e-05	0.0009	0.0023	2.527e-05	0	0.0068	0.0005	0.0012	0.0013	0.0008	0.0008	0.0007	0.0010	0.0033	0.0007	0.0007	0.0026	0.0023	7.217e-05	0	0.0033	0.0023	0	0	0	0.0008	0.0014	0.0015	0.024	0.47745	D	0.125	0.35330	T	0.998	0.73220	D	0.82	0.59072	P	0.002806	0.35900	N	0.235974	0.999898	0.81001	D	1.1	0.28011	L	2.26	0.17596	T	-2.54	0.55025	D	0.363	0.40465	-1.1317	0.01703	T	0.072	0.29323	T	10	0.021440357	0.00513	T	0.024559	0.47547	T	0.205	0.49236	.	.	0.301789629655	0.29801	0.22425452088601844	0.22340	0.0933479579245	0.10547	0.49670124054	0.38368	T	0.092704	0.39060	T	-0.406056	0.02112	T	-0.396581	0.33782	T	0.0695041567087173	0.08581	T	0.632437	0.24680	T	0.19723512	0.41580	0.28775573	0.54789	0.19723512	0.41580	0.28775573	0.54788	-7.551	0.57968	D	.	.	0.161	0.35519	B	.	.	3.805334	0.54855	23.5	0.99666813080586869	0.78330	0.98762	0.86525	D	AEFBI	0.612027	0.60026	D	0.533700047762684	0.69097	5.308727	0.572181772952192	0.72952	5.891761	0.999999958919782	0.74766	0.562547	0.31514	0	0.588066	0.40923	0	0.566861	0.19136	0	0.635551	0.53088	0	.	.	5.79	5.79	0.91751	6.162000	0.71691	8.070000	0.76436	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	16.144	0.81367	551	0.72115	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1315.98	33	chr4	78887246	.	A	G	1315.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.640e-01;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.97;ReadPosRankSum=-1.840e-01;SOR=0.630	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,108,1620	20	0	1	0
chr4	78912028	78912028	C	T	exonic	BMP2K	.	stopgain	BMP2K:NM_198892:exon16:c.C3481T:p.Q1161X,	.	.	428	1064	29	0	1	30	0.0134446	.	.	215303	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.395	T	0.385	T	.	5.896	36	5.51	2.586	7.114	19.420	0.572	.	0.0024	0.000599042	0.0031	0.0006	0.0036	0	0.0002	0.0041	0.0048	0.0027	0.0027296	422	154602	rs138262352	0.0022	0.0022	0.0021	0.0024	0.0336	0.0022	0.0021	0.0297	0.0282	0.0008	0.0030	0.0255	0	0.0002	0.0336	0.0016	0.0044	0.0021	0.0021	0.0021	0.0022	0.0019	0.0022	0.0019	0.0018	0.0020	0.0018	0.0005	0	0.0014	0.0254	0	0.0003	0.0442	0.0022	0.0047	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	0.739903	0.06422	N	1.150280	0.894372	0.81001	D	.	.	.	.	.	.	.	.	.	0.224	0.25130	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238782	0.77546	D	0.566539	0.96104	D	0.0855147993546638	0.10677	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.353860	0.98814	40	0.99572507971229229	0.72501	0.98535	0.83821	D	AEFBCI	0.210611	0.33648	N	1.01349220129095	0.96145	14.35152	0.820984657983906	0.91211	10.77427	0.999999990763139	0.74766	0.634777	0.41761	0	0.577304	0.33150	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	5.51	5.51	0.81769	7.195000	0.77321	7.711000	0.66806	0.511000	0.23309	1.000000	0.71638	1.000000	0.68203	0.014000	0.10232	0.0:1.0:0.0:0.0	19.420	0.94711	553	0.71930	BMP-2-inducible protein kinase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	2506.98	34	chr4	78912028	.	C	T	2506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.361e+00;DP=913;ExcessHet=0.0000;FS=0.510;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.11;ReadPosRankSum=-6.700e-01;SOR=0.739	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1148	20	0	1	0
chr4	79406943	79406943	G	T	exonic	GK2	.	nonsynonymous SNV	GK2:NM_033214:exon1:c.C1258A:p.R420S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.003	B	0.088	N	1.000	N	-0.935	N	-2.51	D	-0.794	T	0.263	T	0.102	-1.160	0.096	1.61	0.358	1.743	9.549	0.156	0.0289387437388	.	.	.	.	.	.	.	.	.	.	.	.	.	rs267600273	3.42e-06	3.42e-06	2.722e-06	4.125e-06	4.496e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.818	0.02974	T	0.63	0.07196	T	0.0	0.02946	B	0.003	0.08700	B	0.088495	0.20477	N	0.550372	0.999882	0.19853	N	-0.785	0.01646	N	-2.51	0.89293	D	1.34	0.00900	N	0.066	0.03841	-0.7943	0.55479	T	0.263	0.63448	T	10	0.039512217	0.02447	T	0.028939	0.51534	D	0.156	0.40720	0.264	0.20946	0.416202232284	0.41236	0.3066418690731017	0.30577	0.0821195563771	0.09255	0.213878333569	0.00987	T	0.007909	0.07283	T	-0.16848	0.25466	T	-0.41614	0.31519	T	0.0192136468561549	0.00628	T	0.508649	0.16166	T	0.053194243	0.10031	0.06244699	0.12219	0.053194243	0.10031	0.06244699	0.12218	-0.366	0.00508	T	.	.	0.137	0.29860	B	.	.	0.297864	0.06735	3.249	0.28410582345910529	0.01457	0.10805	0.16204	N	AEFDBI	0.055828	0.10272	N	-1.09074914009527	0.06812	0.3146908	-0.896897424501546	0.12167	0.6242973	0.0319207634900736	0.14028	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.09	1.61	0.22752	1.629000	0.36683	0.063000	0.14158	-0.265000	0.06832	0.750000	0.29133	0.002000	0.18203	0.395000	0.26670	0.0:0.0:0.3595:0.6405	9.549	0.38464	427	0.81056	Carbohydrate kinase, FGGY, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	634.98	36	chr4	79406943	.	G	T	634.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.171;DP=761;ExcessHet=0.0000;FS=5.150;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.92;ReadPosRankSum=-1.369e+00;SOR=1.004	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1164	20	0	1	0
chr4	80362752	80362752	A	G	splicing	CFAP299	NM_001206997:exon2:c.112-2A>G;NM_152770:exon2:c.112-2A>G	.	.	.	.	440	1079	3	0	0	3	0.00138825	1.0000	0.93	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.982	12.58	5.21	2.091	6.253	14.350	.	.	0.0005	0.000599042	0.0005	0.0005	0.0003	0	0	0.0006	0.0034	0.0003	0.000414	64	154602	rs150478667	0.0004	0.0004	0.0004	0.0004	0.0078	0.0003	0.0003	0.0060	0.0053	0.0005	0.0005	0.0030	0	0	0.0078	0.0003	0.0009	0.0001	0.0004	0.0004	0.0004	0.0005	0.0006	0.0003	0.0003	0.0003	0.0002	0.0005	0	0.0003	0.0037	0	0	0	0.0003	0.0014	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.17953	0.23805	T	-0.15072	0.59181	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.942349	0.81574	27.6	0.98920456754617714	0.48546	0.85623	0.44775	D	ALL	.	.	.	0.955428154937149	0.94199	12.57484	0.761661282205913	0.87026	9.081965	0.999999997009881	0.74766	0.049104	0.00279	0	0.068659	0.01829	0	0.065574	0.01856	0	0.057841	0.00900	0	0.960074	0.65334	5.21	5.21	0.72005	6.212000	0.72128	10.992000	0.84691	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.310000	0.24737	1.0:0.0:0.0:0.0	14.350	0.66255	809	0.43032	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	572.98	33	chr4	80362752	.	A	G	572.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.71;DP=722;ExcessHet=0.0000;FS=1.491;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.85;ReadPosRankSum=-5.300e-02;SOR=1.201	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1239	20	0	1	0
chr4	81046456	81046456	G	C	exonic	BMP3	.	nonsynonymous SNV	BMP3:NM_001201:exon2:c.G1035C:p.K345N,	.	.	432	1078	11	1	0	13	0.00599355	.	.	698649	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.997	D	0.000	N	1.000	D	2.545	M	-0.98	T	-0.436	T	0.265	T	0.054	2.090	12.94	1.03	0.186	1.516	5.969	0.332	.	0.0114	0.00878594	0.0049	0.0289	0.0037	0	0.0014	0.0029	0	0.0033	0.0049353	763	154602	rs61729826	0.0037	0.0037	0.0038	0.0036	0.0277	0.0036	0.0035	0.0262	0.0256	0.0277	0.0034	0.0008	0	0.0010	0.0059	0.0032	0.0052	0.0036	0.0100	0.0100	0.0100	0.0100	0.0284	0.0096	0.0094	0.0271	0.0266	0.0284	0	0.0052	0.0014	0	0.0009	0.0102	0.0032	0.0071	0.0033	0.06	0.37326	T	0.014	0.62352	D	1.0	0.90584	D	0.997	0.86255	D	0.000003	0.62929	N	0.136724	0.999979	0.53665	D	2.62	0.76659	M	-0.98	0.75789	T	-2.38	0.52451	N	0.34	0.38129	-0.4361	0.70860	T	0.265	0.63598	T	10	0.008763164	0.00198	T	.	.	.	0.332	0.65424	0.306	0.27646	0.810575280841	0.80879	0.5417158097507352	0.54096	0.239339673074	0.26486	0.705370545387	0.67921	T	0.664076	0.89954	D	-0.498629	0.00582	T	-0.467392	0.25798	T	0.0608154745942052	0.07296	T	0.616438	0.23595	T	0.15154265	0.34444	0.125605	0.30262	0.15154265	0.34444	0.125605	0.30261	-4.058	0.24668	T	.	.	0.192	0.41094	B	.	.	2.478871	0.31965	18.90	0.99804420559195162	0.88906	0.97138	0.72912	D	AEFBI	0.492403	0.52906	N	0.268471135075821	0.54558	3.621068	0.117626247270571	0.45451	2.807995	2.22081899481336E-5	0.03498	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.16	1.03	0.19161	1.154000	0.31299	1.289000	0.25400	-0.104000	0.15758	1.000000	0.71638	1.000000	0.68203	0.228000	0.22680	0.2965:0.0:0.5707:0.1328	5.969	0.18577	855	0.34697	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1557.98	37	chr4	81046456	.	G	C	1557.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.407;DP=892;ExcessHet=0.0000;FS=6.766;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.23;ReadPosRankSum=1.04;SOR=1.348	GT:AD:DP:GQ:PL	0/1:41,55:96:99:1572,0,1041	20	0	1	0
chr4	81447569	81447569	T	C	exonic	RASGEF1B	.	nonsynonymous SNV	RASGEF1B:NM_001300736:exon5:c.A538G:p.N180D	.	.	.	.	.	.	.	.	.	.	.	3191854	RASGEF1B-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.24	T	0.009	B	0.045	B	0.000	D	1.000	D	0.83	L	1.56	T	-1.106	T	0.042	T	0.109	2.963	15.88	5.01	2.106	5.721	14.552	0.051	.	0.0006	0.00119808	0.0035	0	0	0	0.0381	0.0026	0.0056	0	0.0028201	436	154602	rs111863430	0.0020	0.0021	0.0022	0.0019	0.0006	0.0020	0.0020	0.0006	0.0006	2.988e-05	2.236e-05	0	0	0.0412	0	0.0006	0.0016	0	0.0040	0.0040	0.0024	0.0057	0.0017	0.0037	0.0036	0.0014	0.0013	0	0	0	0.0003	0	0.0467	0	0.0017	0.0005	0	0.013	0.55530	D	0.012	0.63918	D	0.008	0.15093	B	0.016	0.24526	B	0.000000	0.84330	D	0.046294	0.999658	0.48079	D	1.515	0.38264	L	1.56	0.29602	T	-1.61	0.38734	N	0.519	0.54932	-1.1062	0.03417	T	0.042	0.18202	T	10	0.0074291527	0.00169	T	.	.	.	0.051	0.14325	.	.	0.238096912614	0.23440	0.29126952495136554	0.29039	0.341207361243	0.36058	0.664999008179	0.62125	T	0.057791	0.30665	T	-0.547525	0.00302	T	-0.55858	0.16509	T	0.0593631181837364	0.07068	T	0.940206	0.77472	D	0.43433934	0.63035	0.47577834	0.69623	0.43433934	0.63036	0.47577834	0.69624	-11.369	0.81642	D	.	.	0.193	0.44174	B	.;.;.;.;.	.;.;.;.;.	3.679872	0.52371	23.2	0.99554541496685911	0.71335	0.99315	0.94380	D	AEFBI	0.690367	0.65072	D	-0.116393222436982	0.36679	2.123376	0.0570749965767764	0.42415	2.565055	0.999972882735648	0.50053	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.01	5.01	0.66477	5.940000	0.69902	4.058000	0.41564	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:0.0:1.0	14.552	0.67663	801	0.44448	.;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1138.98	35	chr4	81447569	.	T	C	1138.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.175;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=0.067;SOR=0.648	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	20	0	1	0
chr4	82429365	82429365	C	G	exonic	HNRNPDL	.	nonsynonymous SNV	HNRNPDL:NM_001207000:exon1:c.G326C:p.R109P	Muscular dystrophy, limb-girdle, type 1G, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	632479	not_specified|Autosomal_dominant_limb-girdle_muscular_dystrophy_type_1G	MedGen:CN169374|MONDO:MONDO:0012193,MedGen:C1836765,OMIM:609115,Orphanet:55596	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.23	T	0.831	P	0.087	B	0.000	D	1.000	D	0	N	-0.51	T	-0.848	T	0.129	T	0.68	4.160	21.5	4.74	2.469	1.907	14.735	0.268	0.813455548222	.	.	2.499e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs780878669	8.896e-06	8.893e-06	6.809e-06	1.1e-05	0.0001	4.96e-06	3.83e-06	5.396e-05	4.042e-05	0	0	0	0	0	0	3.598e-06	0	0.0001	6.578e-06	6.57e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.196	0.31936	T	0.831	0.46109	P	0.087	0.29615	B	0.000478	0.44119	D	0.000000	0.761133	0.81001	D	0	0.06538	N	-0.51	0.70597	T	-0.34	0.12661	N	0.261	0.29544	-0.8484	0.52079	T	0.129	0.43848	T	10	0.27249962	0.44794	T	0.813456	0.98547	D	0.268	0.58254	0.256	0.19689	0.76921942964	0.76711	0.32677003994674136	0.32590	0.911059692479	0.71063	0.718757688999	0.69866	T	0.049241	0.28249	T	-0.060837	0.42776	T	-0.0884961	0.64275	T	0.347404956817627	0.26916	T	0.694431	0.30396	T	0.35908878	0.57766	0.6212509	0.77934	0.35908878	0.57766	0.6212509	0.77935	-3.017	0.10365	T	.	.	0.143	0.31482	B	.;.;.	.;.;.	4.133887	0.61886	24.4	0.99707569809078989	0.81074	0.64935	0.32570	D	ALL	0.460527	0.51067	N	-0.0507988476497762	0.39565	2.335367	0.0830048279186588	0.43695	2.665916	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.74	4.74	0.59717	1.534000	0.35656	3.142000	0.36487	-0.347000	0.05626	1.000000	0.71638	1.000000	0.68203	0.692000	0.33898	0.0:1.0:0.0:0.0	14.735	0.69026	912	0.21483	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1238.98	106	chr4	82429365	.	C	G	1238.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.599;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=0.442;SOR=0.769	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1171	20	0	1	0
chr4	82485718	82485718	G	C	exonic	TMEM150C	.	stopgain	TMEM150C:NM_001080506:exon8:c.C543G:p.Y181X	.	.	.	.	.	.	.	.	.	0.0001	0.182	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.931	20.0	-0.524	-0.063	0.904	10.727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.197	0.35620	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554516	0.95935	D	0.558747	0.95874	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	7.551913	0.96631	36	0.99231645482670716	0.56246	0.84936	0.44032	D	AEFBI	0.672136	0.63864	D	0.313603425530097	0.56846	3.850099	0.0790961557728284	0.43499	2.650366	0.0045372004880548	0.10604	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.41	-0.524	0.11325	0.925000	0.28392	2.468000	0.32884	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.5775:0.0:0.4225:0.0	10.727	0.45273	936	0.14734	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1053	421.18	37	chr4	82485718	.	G	C	421.18	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-8.010e-01;DP=774;ExcessHet=0.6776;FS=135.841;InbreedingCoeff=-0.1537;MLEAC=4;MLEAF=0.105;MQ=60.00;MQRankSum=0.00;QD=2.73;ReadPosRankSum=0.439;SOR=7.761	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:33,0:33:0:.:.:0,0,540	15	0	4	2
chr4	82857715	82857715	C	T	exonic	SEC31A	.	nonsynonymous SNV	SEC31A:NM_001300744:exon13:c.G1559A:p.G520E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.022	B	0.015	B	0.365	N	0.549	N	0.205	N	3.23	T	-1.031	T	0.047	T	0.225	1.365	10.49	5.01	1.476	1.817	7.196	0.027	0.00722142938881	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1299691420	0	3.421e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.27904	T	0.194	0.42614	T	0.0	0.18677	B	0.002	0.17295	B	0.364694	0.13617	N	0.739451	0.54891	0.32116	D	-0.46	0.02758	N	1.39	0.37405	T	-0.95	0.30346	N	0.138	0.16586	-1.0309	0.20163	T	0.047	0.19998	T	10	0.105351955	0.19468	T	0.007221	0.19143	T	0.027	0.05988	0.356	0.35734	0.388812400583	0.38497	0.2845976790904441	0.28372	0.201426189278	0.22544	0.490566432476	0.37517	T	0.030175	0.21449	T	-0.184982	0.22997	T	-0.50349	0.21987	T	0.134642779827118	0.15804	T	0.882412	0.61002	D	0.0582937	0.11709	0.06487686	0.13067	0.0582937	0.11709	0.06487686	0.13067	-4.968	0.42416	T	.	.	0.081	0.08851	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.512387	0.32452	19.05	0.961338932891461	0.28814	0.81300	0.40733	D	AEFBI	0.176226	0.30343	N	-0.378738582245893	0.26229	1.429835	-0.178408093620939	0.32331	1.838385	0.711181933749235	0.22822	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.85	5.01	0.66477	1.853000	0.38998	2.515000	0.33093	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.776000	0.36750	0.0:0.6809:0.1349:0.1841	7.196	0.25028	921	0.19240	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1167.98	34	chr4	82857715	.	C	T	1167.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=866;ExcessHet=0.0000;FS=1.481;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.65;ReadPosRankSum=-3.750e-01;SOR=0.909	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1151	20	0	1	0
chr4	82863371	82863371	G	A	exonic	SEC31A	.	nonsynonymous SNV	SEC31A:NM_001191049:exon11:c.C1441T:p.R481C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	3.38	M	2.79	T	-0.557	T	0.255	T	0.891	5.253	33	5.23	2.614	9.813	19.170	0.553	0.0756461852381	.	.	1.658e-05	0	0	0	0	3.014e-05	0	0	1.94e-05	3	154602	rs780801269	9.142e-06	1.095e-05	8.401e-06	9.89e-06	9.108e-06	5.1e-06	3.93e-06	4.61e-06	3.36e-06	0	0	0	0	0	0	9.108e-06	5.1e-05	0	3.298e-05	3.287e-05	3.866e-05	2.703e-05	5.889e-05	1.265e-05	8.01e-06	1.974e-05	1.126e-05	2.425e-05	0	0	0	0	0	0	5.889e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.979	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.485	0.92608	M	0.95	0.58613	T	-7.78	0.96317	D	0.945	0.95374	-0.5575	0.66500	T	0.255	0.62541	T	10	0.7906233	0.78628	D	0.075646	0.72338	D	0.664	0.87479	0.542	0.65446	0.620499027837	0.61742	0.7524725823523698	0.75194	0.716206577235	0.61982	0.767452478409	0.77043	T	0.656642	0.89645	D	0.307879	0.83585	D	0.28071	0.87162	D	0.997347712516785	0.91335	D	0.975102	0.91818	D	0.8741414	0.89192	0.75437224	0.85483	0.8741414	0.89193	0.75437224	0.85484	-10.195	0.75194	D	.	.	0.855	0.80085	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.878754	0.93922	33	0.999288650200436	0.99222	0.99876	0.99923	D	AEFBI	0.956732	0.97546	D	0.668595563849586	0.77578	6.701491	0.686710440778711	0.81367	7.510533	0.999999999999768	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.23	5.23	0.72570	9.917000	0.98722	11.672000	0.94114	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.170	0.93561	918	0.19598	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	563.98	33	chr4	82863371	.	G	A	563.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=776;ExcessHet=0.0000;FS=1.986;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.05;ReadPosRankSum=0.590;SOR=1.051	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,111,1260	20	0	1	0
chr4	82984252	82984252	A	C	exonic	LIN54	.	nonsynonymous SNV	LIN54:NM_001288996:exon2:c.T593G:p.I198S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.275	B	0.07	B	0.009	N	1.000	D	0.345	N	.	.	-1.000	T	0.113	T	0.626	2.693	14.96	5.62	2.266	6.263	16.117	0.131	0.00360518778759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.518	0.46862	T	0.18	0.31898	B	0.032	0.27859	B	0.009239	0.30456	N	0.382470	0.999775	0.81001	D	0.55	0.14455	N	.	.	.	-0.75	0.25770	N	0.498	0.53445	-1.0004	0.29803	T	0.113	0.40238	T	9	0.17180333	0.31919	T	0.003605	0.08247	T	0.131	0.35738	0.272	0.22210	0.102598925029	0.09809	0.6039389758090572	0.60324	0.296570310644	0.32047	0.628779411316	0.56971	T	0.034797	0.23466	T	0.124985	0.66869	D	-0.0582444	0.66455	T	0.638748380310257	0.37984	D	0.915408	0.69775	D	0.46584243	0.65035	0.34167713	0.59904	0.46584243	0.65035	0.34167713	0.59903	-2.168	0.03888	T	.	.	0.277	0.61531	B	.;.;.	.;.;.	4.001230	0.58965	24.0	0.98887384262687084	0.47930	0.97535	0.75383	D	AEFBI	0.806412	0.73073	D	-0.00590302813105012	0.41587	2.490203	0.207633933936122	0.50270	3.220875	0.999999999773133	0.74766	0.643511	0.44296	0	0.615513	0.52658	0	0.658983	0.55881	0	0.631631	0.49550	0	.	.	5.62	5.62	0.85714	8.054000	0.89239	11.198000	0.88920	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.117	0.81124	895	0.25842	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	935.98	38	chr4	82984252	.	A	C	935.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.067e+00;DP=866;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.67;ReadPosRankSum=0.137;SOR=0.706	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1165	20	0	1	0
chr4	83295427	83295427	G	A	exonic	HPSE	.	nonsynonymous SNV	HPSE:NM_001166498:exon11:c.C1327T:p.R443W	.	.	430	1086	4	2	0	8	0.00366972	.	.	2355865	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.841	P	0.129	N	0.993	N	2.045	M	0.88	T	-0.876	T	0.185	T	0.241	3.093	16.33	3.5	1.482	0.157	2.851	0.101	0.0196557752655	.	0.000199681	0.0001	9.617e-05	0	0.0013	0	2.998e-05	0	0.0002	0.0001229	19	154602	rs200924614	6.776e-05	6.772e-05	5.993e-05	7.567e-05	0.0009	5.673e-05	5.264e-05	0.0007	0.0006	0.0002	0	0	0.0009	0	0.0003	1.44e-05	0.0002	0.0003	7.88e-05	7.875e-05	6.425e-05	9.401e-05	0.0015	4.494e-05	3.51e-05	0.0008	0.0006	2.407e-05	0	0	0	0.0015	0	0	0	0	0.0006	0.096	0.40068	T	0.018	0.59732	D	0.997	0.70673	D	0.517	0.48105	P	0.128609	0.18724	N	0.611242	0.994618	0.23822	N	2.595	0.75868	M	0.85	0.47130	T	-3.28	0.67705	D	0.18	0.36884	-0.8765	0.50036	T	0.185	0.53481	T	10	0.026233643	0.00795	T	0.019656	0.42079	T	0.101	0.28911	.	.	0.394837016283	0.39092	0.5806748098832951	0.57996	0.296062648585	0.31993	0.267074882984	0.05762	T	0.807378	0.95150	D	-0.455078	0.01054	T	-0.472016	0.25300	T	0.204982529697773	0.20688	T	0.924208	0.73726	D	0.22994377	0.45740	0.168974	0.38898	0.22994377	0.45740	0.168974	0.38897	-6.56	0.50747	T	.	.	0.107	0.28892	B	.;.;.;.	.;.;.;.	4.062378	0.60295	24.2	0.99818157903624316	0.90150	0.12602	0.17368	N	AEFI	0.350268	0.44377	N	0.169678926810169	0.49746	3.171634	0.0946756179637461	0.44280	2.712865	0.340013422276003	0.19574	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.39	3.5	0.39181	0.157000	0.16219	4.513000	0.43656	0.616000	0.49467	0.573000	0.27530	1.000000	0.68203	0.970000	0.54328	0.0903:0.1585:0.4223:0.3289	2.851	0.05215	798	0.45050	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1232.98	36	chr4	83295427	.	G	A	1232.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.89;DP=810;ExcessHet=0.0000;FS=0.695;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.63;ReadPosRankSum=-7.360e-01;SOR=0.579	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1217	20	0	1	0
chr4	83310866	83310866	G	C	exonic	HPSE	.	nonsynonymous SNV	HPSE:NM_001199830:exon4:c.C524G:p.A175G	.	.	436	1074	11	1	0	13	0.00601573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.983	D	0.771	P	0.001	D	1.000	D	2.35	M	1.53	T	-1.130	T	0.017	T	0.256	3.633	18.48	5.2	2.706	6.749	18.537	0.140	.	0.0008	0.0109824	0.0108	0.0018	0.0909	0.0006	0	0.0004	0.0088	0.0118	0.0101034	1562	154602	rs12512551	0.0037	0.0037	0.0037	0.0037	0.0825	0.0036	0.0036	0.0803	0.0794	0.0007	0.0825	0	0.0006	0.0002	0.0023	0.0003	0.0033	0.0128	0.0060	0.0060	0.0056	0.0063	0.0451	0.0056	0.0055	0.0423	0.0412	0.0019	0.0263	0.0451	0	0.0002	9.432e-05	0	0.0004	0.0109	0.0133	0.304	0.23007	T	0.337	0.18449	T	0.983	0.60381	D	0.771	0.56890	P	0.000898	0.41231	D	0.243454	0.999955	0.52396	D	2.615	0.76484	M	1.53	0.30401	T	-1.85	0.45042	N	0.055	0.17002	-1.1300	0.01782	T	0.017	0.07045	T	10	0.0030927062	0.00051	T	.	.	.	0.140	0.37593	.	.	.	.	0.5450426713405191	0.54430	0.117441942622	0.13232	0.311771512032	0.12174	T	0.290437	0.66321	T	-0.503193	0.00548	T	-0.428771	0.30074	T	0.0320085691398385	0.02308	T	0.787921	0.43272	T	0.47603473	0.65659	0.3964563	0.64287	0.47603473	0.65659	0.3964563	0.64287	-4.514	0.31072	T	.	.	0.140	0.39134	B	.;.;.;.	.;.;.;.	4.472295	0.69705	25.4	0.99716232022710227	0.81703	0.98323	0.81627	D	AEFBI	0.806700	0.73094	D	0.600026262302336	0.73178	5.923686	0.609252135412674	0.75613	6.341247	0.999999999871765	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.2	5.2	0.71720	7.075000	0.76485	9.443000	0.80834	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.903000	0.43903	0.0:0.0:1.0:0.0	18.537	0.90965	824	0.40336	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	984.98	36	chr4	83310866	.	G	C	984.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.037e+00;DP=802;ExcessHet=0.0000;FS=1.772;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.26;ReadPosRankSum=0.809;SOR=0.479	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1236	20	0	1	0
chr4	85972140	85972140	C	T	exonic	ARHGAP24	.	nonsynonymous SNV	ARHGAP24:NM_001346093:exon3:c.C125T:p.A42V	.	.	411	1109	1	1	0	3	0.00135074	.	.	3282742	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.981	D	0.856	P	0.000	D	1.000	D	1.555	L	0.95	T	-0.840	T	0.203	T	0.735	4.282	22.4	5.48	2.567	7.685	19.351	0.190	0.0203155919161	.	.	7.43e-05	0	0	0	0	3.003e-05	0	0.0004	5.82e-05	9	154602	rs760970265	4.242e-05	4.241e-05	2.859e-05	5.638e-05	0.0006	3.377e-05	3.065e-05	0.0005	0.0004	2.987e-05	2.236e-05	0	2.519e-05	0	0	4.497e-06	6.623e-05	0.0006	5.933e-05	5.916e-05	7.726e-05	4.052e-05	0.0005	3.086e-05	2.217e-05	0.0003	0.0002	0	0	0.0005	0	0	0	0	0	0.0005	0	0.002	0.78490	D	0.008	0.72224	D	0.907	0.59675	P	0.665	0.61001	P	0.000060	0.53742	D	0.169713	1	0.81001	D	1.315	0.32790	L	0.95	0.43279	T	-3.2	0.66206	D	0.697	0.70175	-0.8404	0.52620	T	0.203	0.56073	T	10	0.35636705	0.52377	T	0.020316	0.42890	T	0.190	0.46781	0.57	0.69299	0.660676212287	0.65783	0.35592191526004957	0.35506	0.381722051695	0.39521	0.743844091892	0.73539	T	0.164641	0.51018	T	-0.165473	0.25922	T	-0.126035	0.61303	T	0.392708957195282	0.28667	T	0.988564	0.96090	D	0.436703	0.63189	0.4725988	0.69426	0.436703	0.63189	0.4725988	0.69427	-12.443	0.86942	D	.	.	0.548	0.67564	A	.;.;.;.;.;.	.;.;.;.;.;.	4.256745	0.64661	24.7	0.99797405919036553	0.88283	0.98589	0.84429	D	AEFBI	0.908430	0.86373	D	0.608431182495738	0.73706	6.010331	0.643035414532747	0.78095	6.807407	1.0	0.98316	0.706548	0.73137	0	0.588015	0.36545	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.772000	0.84213	4.748000	0.44643	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:1.0:0.0:0.0	19.351	0.94373	445	0.79730	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.;.;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1040.98	37	chr4	85972140	.	C	T	1040.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.81;DP=807;ExcessHet=0.0000;FS=3.598;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.55;ReadPosRankSum=0.245;SOR=0.409	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1078	20	0	1	0
chr4	86693648	86693648	G	A	exonic	PTPN13	.	nonsynonymous SNV	PTPN13:NM_006264:exon6:c.G608A:p.R203Q	.	.	0	1521	1	0	0	1	0.000328623	.	.	2683608	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.002	N	1.000	D	2.215	M	1.35	T	-0.633	T	0.243	T	0.468	5.398	34	5.55	2.617	8.127	19.507	0.354	0.120391421668	.	.	7.954e-05	0	0	0	0	8.873e-05	0	0.0001	5.17e-05	8	154602	rs567152948	7.703e-05	8.756e-05	6.904e-05	8.522e-05	0.0002	6.514e-05	6.054e-05	9.667e-05	7.654e-05	0	2.714e-05	0	0	0	0.0002	8.161e-05	8.627e-05	0.0002	5.26e-05	5.254e-05	5.142e-05	5.384e-05	0.0002	2.559e-05	1.831e-05	2.847e-05	1.858e-05	0	0	0.0001	0	0	0	0	7.351e-05	0	0.0002	0.003	0.72154	D	0.007	0.70582	D	1.0	0.90584	D	1.0	0.97372	D	0.002000	0.37503	N	0.000000	0.999993	0.58761	D	2.885	0.83555	M	1.35	0.34648	T	-2.9	0.60827	D	0.609	0.66700	-0.6331	0.63439	T	0.243	0.61166	T	10	0.5519866	0.64307	D	0.120391	0.80092	D	0.354	0.67510	0.438	0.49157	0.527908583987	0.52438	0.5641292700225263	0.56339	0.272485104061	0.29758	0.58894944191	0.51346	T	0.62221	0.88174	D	0.00210623	0.51945	T	-0.234751	0.51309	T	0.853504657745361	0.50471	D	0.988801	0.96179	D	0.31853807	0.54515	0.32706577	0.58608	0.31853807	0.54515	0.32706577	0.58607	-4.237	0.28079	T	.	.	0.577	0.67932	P	.;.;.;.;.	.;.;.;.;.	4.983147	0.82561	27.8	0.99960478404196518	0.99997	0.98782	0.86783	D	AEFBI	0.874557	0.79750	D	0.857141594639473	0.89510	10.00189	0.839668652592876	0.92398	11.40369	0.999998005779922	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	5.55	5.55	0.83298	8.222000	0.89729	11.861000	0.98322	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	19.507	0.95116	778	0.48011	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1098.98	35	chr4	86693648	.	G	A	1098.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.699;DP=787;ExcessHet=0.0000;FS=5.328;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.08;ReadPosRankSum=-5.080e-01;SOR=0.404	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1276	20	0	1	0
chr4	86753030	86753030	G	A	exonic	PTPN13	.	nonsynonymous SNV	PTPN13:NM_080683:exon20:c.G3188A:p.G1063E	.	.	4	1450	65	3	0	71	0.0238977	.	.	709495	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.24	T	0.897	P	0.624	P	0.001	U	1.000	D	1.78	L	0.75	T	-0.936	T	0.118	T	0.163	0.725	7.854	4.12	1.220	3.343	9.523	0.075	.	0.0051	0.00599042	0.0072	0.0016	0.0023	0.0001	0.0014	0.0058	0.0046	0.0257	0.0067593	1045	154602	rs61757792	0.0076	0.0077	0.0070	0.0081	0.0249	0.0074	0.0074	0.0240	0.0237	0.0012	0.0022	0.0079	7.603e-05	0.0018	0.0101	0.0071	0.0075	0.0249	0.0048	0.0049	0.0046	0.0050	0.0264	0.0045	0.0044	0.0226	0.0212	0.0014	0	0.0044	0.0069	0	0.0014	0	0.0064	0.0052	0.0264	0.072	0.34982	T	0.015	0.61642	D	0.897	0.49385	P	0.624	0.51529	P	0.001153	0.40056	U	0.000000	0.97235	0.81001	D	1.935	0.51832	L	0.75	0.51228	T	-2.13	0.48354	N	0.375	0.41952	-0.9357	0.43288	T	0.118	0.41451	T	10	0.007902771	0.00179	T	.	.	.	0.075	0.21907	.	.	0.631643887469	0.62863	0.36882168391493325	0.36796	0.0557682884687	0.06166	0.54100227356	0.44587	T	0.089488	0.38383	T	-0.472092	0.00825	T	-0.433318	0.29558	T	0.0327344485482899	0.02427	T	0.778122	0.41194	T	0.12600833	0.29525	0.18099791	0.40935	0.12600833	0.29525	0.18099791	0.40935	-3.895	0.22227	T	.	.	0.150	0.39477	B	.;.;.	.;.;.	4.097530	0.61070	24.3	0.86576947811205285	0.16629	0.82451	0.41677	D	AEFGBI	0.211529	0.33731	N	0.0797420084746258	0.45518	2.807024	0.0835819587956253	0.43722	2.66822	0.00666001195444328	0.11274	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.620846	0.47308	0	.	.	4.96	4.12	0.47504	3.392000	0.52279	11.824000	0.97325	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.889000	0.42754	0.1714:0.0:0.8286:0.0	9.523	0.38314	856	0.34373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3408.11	34	chr4	86753030	.	G	A	3408.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.05;DP=985;ExcessHet=0.1072;FS=1.903;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=0.791;SOR=0.615	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	19	0	2	0
chr4	86771343	86771343	G	A	exonic	PTPN13	.	nonsynonymous SNV	PTPN13:NM_080684:exon28:c.G4403A:p.G1468E	.	.	0	1509	12	1	0	14	0.00461741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.999	D	0.951	D	0.000	D	1.000	D	1.795	L	0.88	T	-0.718	T	0.266	T	0.512	3.852	19.57	5.32	2.659	5.125	19.364	0.141	0.0328492028547	0.0014	0.000399361	0.0023	0.0002	0.0040	0	0.0003	0.0028	0	0.0025	0.0012872	199	154602	rs200197835	0.0013	0.0013	0.0012	0.0013	0.0092	0.0012	0.0012	0.0072	0.0065	0.0003	0.0010	0.0019	0	0.0004	0.0092	0.0013	0.0015	0.0019	0.0010	0.0010	0.0011	0.0009	0.0023	0.0009	0.0008	0.0013	0.0011	0.0002	0	0.0012	0.0023	0.0002	9.42e-05	0.0068	0.0015	0.0024	0.0023	0.005	0.68238	D	0.286	0.22895	T	0.804	0.77913	P	0.47	0.68939	P	0.000191	0.48115	D	0.000000	0.999602	0.50402	D	2.455	0.71248	M	0.77	0.49642	T	-2.07	0.47344	N	0.511	0.62442	-0.7178	0.59570	T	0.266	0.63749	T	10	0.01038003	0.00231	T	0.032849	0.54562	D	0.141	0.37795	.	.	0.681325144492	0.67861	0.2853051659859966	0.28443	0.278121461351	0.30303	0.417560070753	0.27501	T	0.093703	0.39266	T	-0.336813	0.05612	T	-0.262443	0.48579	T	0.0693340315687065	0.08557	T	0.874113	0.58433	D	0.23569645	0.46409	0.40093648	0.64617	0.23569645	0.46409	0.40093648	0.64617	-1.796	0.02772	T	.	.	0.163	0.40457	B	.;.;.;.;.	.;.;.;.;.	3.804592	0.54844	23.5	0.99735981128536155	0.83119	0.93422	0.58175	D	AEFGBI	0.510755	0.53967	D	0.612841366270738	0.73986	6.056534	0.630994193505769	0.77201	6.634192	0.998790007182274	0.37689	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	5.32	5.32	0.75377	5.425000	0.66208	6.502000	0.55786	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.364	0.94445	863	0.32847	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1944.98	33	chr4	86771343	.	G	A	1944.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.774;DP=861;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=-4.780e-01;SOR=0.670	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,111,1665	20	0	1	0
chr4	86784491	86784491	A	G	exonic	PTPN13	.	nonsynonymous SNV	PTPN13:NM_080684:exon35:c.A5478G:p.I1826M	.	.	5	1513	4	0	0	4	0.00132013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.308	B	0.193	B	0.177	N	1.000	N	0.69	N	0.77	T	-1.017	T	0.091	T	0.047	-0.619	1.248	-0.402	-0.211	-0.149	3.812	0.008	0.0128030466797	.	.	1.855e-05	0	0	0	0	3.341e-05	0	0	1.29e-05	2	154602	rs758069511	1.306e-05	1.3e-05	1.094e-05	1.52e-05	0.0005	8.35e-06	6.73e-06	0.0001	7.56e-05	0	0	0	0	1.874e-05	0.0005	8.11e-06	8.32e-05	1.18e-05	6.574e-06	6.566e-06	1.285e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.049	0.43708	D	0.053	0.47336	T	0.308	0.32740	B	0.193	0.36509	B	0.177255	0.03156	N	1.749480	1	0.08975	N	0.345	0.11182	N	0.66	0.52416	T	-0.55	0.16799	N	0.109	0.14622	-1.0166	0.24819	T	0.091	0.34847	T	10	0.049948543	0.04656	T	0.012803	0.31686	T	0.008	0.00669	0.154	0.05752	0.180583059064	0.17676	0.45129868153637265	0.45047	0.0605159012677	0.06728	0.30800190568	0.11605	T	0.083686	0.37110	T	-0.35597	0.04363	T	-0.685457	0.06655	T	0.0238005939937022	0.01120	T	0.851115	0.53499	D	0.04864847	0.08512	0.0525489	0.08678	0.04864847	0.08512	0.0525489	0.08678	-4.266	0.27697	T	.	.	0.089	0.19639	B	.;.;.;.;.	.;.;.;.;.	0.360671	0.07334	3.949	0.18488048481698152	0.00583	0.03065	0.07972	N	AEBI	0.051899	0.09214	N	-1.2885701379635	0.03812	0.17096	-1.33053698673032	0.04041	0.1897668	0.00241271301798474	0.09408	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.12	-0.402	0.11786	-0.269000	0.08626	0.751000	0.21237	-1.676000	0.00793	0.000000	0.06391	0.366000	0.24545	0.033000	0.13494	0.1527:0.2693:0.0:0.578	3.812	0.08316	852	0.35056	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1780.98	35	chr4	86784491	.	A	G	1780.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=841;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.13;ReadPosRankSum=0.414;SOR=0.683	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1203	20	0	1	0
chr4	87114434	87114434	C	T	exonic	AFF1	.	nonsynonymous SNV	AFF1:NM_001313960:exon9:c.C494T:p.A165V	.	.	11	1499	11	1	0	13	0.0043175	.	.	734754	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.55	T	0.0	B	0.001	B	0.978	N	1.000	N	-0.515	N	0.03	T	-1.001	T	0.069	T	0.081	0.489	6.651	-8.4	-1.387	-0.774	8.726	0.027	0.0200897194494	0.0006	0.00219649	0.0013	0.0030	0.0004	0.0003	0	0.0009	0	0.0034	0.001009	156	154602	rs201993229	0.0007	0.0007	0.0007	0.0008	0.0031	0.0007	0.0007	0.0028	0.0027	0.0018	0.0002	0.0032	0.0002	0	0.0016	0.0005	0.0008	0.0031	0.0011	0.0011	0.0011	0.0010	0.0023	0.0009	0.0009	0.0017	0.0015	0.0020	0	0.0003	0.0043	0.0002	0	0	0.0007	0.0005	0.0023	1.0	0.24372	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.978139	0.07822	N	1.010520	1	0.08975	N	-0.59	0.02258	N	0.03	0.64086	T	0.03	0.42575	N	0.067	0.10483	-1.0012	0.29574	T	0.069	0.28147	T	10	0.0035907328	0.00065	T	0.02009	0.42610	T	0.027	0.05988	.	.	0.243398259712	0.23965	0.06372221201482546	0.06311	0.049690005848	0.05445	0.319151550531	0.13293	T	0.078648	0.35941	T	-0.606319	0.00133	T	-0.645502	0.09272	T	0.002194123681064	0.00023	T	0.40306	0.11673	T	0.017148348	0.00250	0.03160284	0.01773	0.017148348	0.00249	0.03160284	0.01772	-4.74	0.34369	T	.	.	0.059	0.00847	B	.;.;.	.;.;.	-1.090542	0.00652	0.018	0.52902382881995713	0.04836	0.06513	0.12523	N	AEFDBHCI	0.030058	0.02955	N	-1.82267421312906	0.00492	0.02117562	-1.84736744974942	0.00619	0.0275136	0.99999977705542	0.74766	0.624846	0.39970	0	0.653731	0.59785	0	0.650271	0.49498	0	0.635551	0.53088	0	.	.	5.89	-8.4	0.00843	-0.417000	0.07153	-4.616000	0.02068	-1.823000	0.00598	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0922:0.3703:0.0:0.5375	8.726	0.33630	761	0.50382	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1033.98	33	chr4	87114434	.	C	T	1033.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.048;DP=770;ExcessHet=0.0000;FS=0.942;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.99;ReadPosRankSum=-7.120e-01;SOR=0.719	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1051	20	0	1	0
chr4	87114755	87114755	C	T	exonic	AFF1	.	nonsynonymous SNV	AFF1:NM_001313960:exon9:c.C815T:p.S272F	.	.	9	1479	34	0	0	34	0.0113636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.759	P	0.181	B	0.882	N	1.000	N	1.01	L	-0.16	T	-1.017	T	0.105	T	0.299	0.223	5.201	3.16	0.374	1.540	6.780	0.172	.	0.0035	0.00299521	0.0042	0.0010	0.0047	0	0.0153	0.0048	0.0045	0.0012	0.0037774	584	154602	rs61734705	0.0033	0.0033	0.0033	0.0032	0.0198	0.0032	0.0032	0.0168	0.0157	0.0012	0.0043	0.0080	0	0.0138	0.0198	0.0028	0.0041	0.0013	0.0037	0.0037	0.0031	0.0043	0.0039	0.0034	0.0033	0.0031	0.0029	0.0008	0	0.0039	0.0118	0	0.0166	0.0170	0.0034	0.0047	0.0010	0.062	0.36912	T	0.72	0.05345	T	0.759	0.43487	P	0.181	0.35894	B	0.882298	0.08747	N	0.949291	1	0.08975	N	2.17	0.60663	M	-0.16	0.65378	T	-2.06	0.47175	N	0.348	0.42149	-1.0172	0.24625	T	0.105	0.38513	T	10	0.006207943	0.00140	T	.	.	.	0.172	0.43662	.	.	0.562879358496	0.55950	0.19588485410126055	0.19505	0.0532509764265	0.05870	0.425953328609	0.28655	T	0.232717	0.59934	T	-0.418167	0.01757	T	-0.367754	0.37152	T	0.0066038834103697	0.00074	T	0.810019	0.46084	T	0.07412139	0.16611	0.08228966	0.18771	0.07412139	0.16611	0.08228966	0.18770	-7.231	0.55703	T	.	.	0.110	0.31558	B	.;.;.	.;.;.	1.278152	0.16773	12.76	0.6391828850066581	0.07352	0.22897	0.21899	N	AEFDBHCIJ	0.096527	0.19484	N	-0.670679487230267	0.16860	0.8627298	-0.73702708724918	0.16042	0.8467487	0.999938047868116	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	5.82	3.16	0.35406	1.390000	0.34072	1.398000	0.26172	-0.218000	0.08083	0.001000	0.13787	0.001000	0.17328	0.003000	0.05239	0.2521:0.6073:0.0:0.1406	6.780	0.22823	761	0.50382	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2551.11	33	chr4	87114755	.	C	T	2551.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.48;DP=884;ExcessHet=0.1072;FS=1.072;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=0.859;SOR=0.668	GT:AD:DP:GQ:PL	0/1:39,59:98:99:1612,0,1013	19	0	2	0
chr4	87125047	87125047	A	C	exonic	AFF1	.	nonsynonymous SNV	AFF1:NM_001313960:exon10:c.A1370C:p.E457A	.	.	16	1504	2	0	0	2	0.000664452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.972	D	0.817	P	0.012	N	0.999	D	2.125	M	-0.2	T	-0.382	T	0.341	T	0.536	2.996	15.99	5.32	2.016	3.261	10.505	0.263	0.0290905656334	.	.	0.0002	0	0.0003	0	0.0002	0.0003	0	0	0.0001035	16	154602	rs200278451	0.0001	0.0001	0.0001	0.0001	0.0041	0.0001	0.0001	0.0028	0.0023	0.0002	0.0004	0.0004	0	1.886e-05	0.0041	0.0001	0.0002	1.18e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.692e-05	0.0001	9.896e-05	4.81e-05	0	0.0003	0.0003	0	0	0.0102	0.0002	0.0005	0	0.011	0.55530	D	0.027	0.55341	D	0.972	0.57405	D	0.817	0.58928	P	0.011733	0.29422	N	0.291697	0.998858	0.45564	D	1.94	0.52218	M	-0.2	0.66113	T	-3.81	0.71997	D	0.38	0.44666	-0.3822	0.72583	T	0.341	0.70656	T	10	0.24142894	0.41320	T	0.029091	0.51659	D	0.263	0.57612	.	.	0.754003673566	0.75177	0.2391500980236004	0.23829	0.0521099391984	0.05734	0.408450305462	0.26242	T	0.572408	0.85864	D	-0.177408	0.24123	T	-0.186634	0.55905	T	0.148684471845627	0.16998	T	0.820618	0.48098	T	0.1447447	0.33211	0.141533	0.33701	0.1447447	0.33211	0.141533	0.33700	-7.739	0.60599	D	.	.	0.161	0.40730	B	.;.;.	.;.;.	3.887627	0.56547	23.7	0.99372876865250204	0.61541	0.96244	0.68199	D	AEFBI	0.189727	0.31698	N	0.550420787036767	0.70108	5.453309	0.538875354038259	0.70627	5.533094	0.998236851560776	0.36618	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	4.247000	0.58542	9.372000	0.80454	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.9224:0.0:0.0776:0.0	10.505	0.44015	758	0.50837	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	425.98	34	chr4	87125047	.	A	C	425.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=729;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.83;ReadPosRankSum=-3.660e-01;SOR=0.627	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1194	20	0	1	0
chr4	87126176	87126176	C	T	exonic	AFF1	.	nonsynonymous SNV	AFF1:NM_001313960:exon11:c.C1544T:p.P515L	.	.	9	1499	14	0	0	14	0.00464807	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.969	D	0.839	P	0.019	N	1.000	D	1.67	L	-0.08	T	-0.422	T	0.285	T	0.298	3.504	17.91	5.47	2.569	2.682	18.928	0.212	0.031354613247	0.0039	0.00239617	0.0039	0.0009	0.0071	0	0.0023	0.0051	0.0077	0.0013	0.003771	583	154602	rs144038967	0.0042	0.0042	0.0043	0.0040	0.0071	0.0041	0.0040	0.0064	0.0062	0.0008	0.0071	0.0042	0	0.0024	0.0042	0.0045	0.0044	0.0017	0.0040	0.0040	0.0039	0.0042	0.0144	0.0038	0.0037	0.0128	0.0122	0.0007	0.0011	0.0144	0.0029	0.0002	0.0025	0.0068	0.0044	0.0123	0.0006	0.01	0.56456	D	0.008	0.67890	D	0.946	0.53363	P	0.839	0.60107	P	0.019188	0.27313	N	0.317510	1	0.81001	D	1.985	0.53793	M	-0.08	0.63911	T	-4.24	0.76015	D	0.17	0.25989	-0.4224	0.71313	T	0.285	0.65724	T	10	0.006706327	0.00152	T	0.031355	0.53460	D	0.212	0.50341	.	.	0.727231234461	0.72481	0.2872403681460219	0.28637	0.0505304490514	0.05550	0.3721152246	0.21135	T	0.595426	0.86956	D	-0.3689	0.03650	T	-0.299368	0.44792	T	0.0199449092445223	0.00695	T	0.937606	0.76517	D	0.13919996	0.32163	0.16814873	0.38752	0.13919996	0.32163	0.16814873	0.38751	-5.565	0.42471	T	.	.	0.110	0.21315	B	.;.;.	.;.;.	3.591476	0.50680	23.0	0.99715031766378337	0.81633	0.91416	0.53489	D	AEFDBCI	0.286492	0.39886	N	0.529922966550973	0.68869	5.276787	0.52408829931624	0.69614	5.385736	0.999999864991586	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	3.068000	0.49716	4.047000	0.41475	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.806000	0.37994	0.0:1.0:0.0:0.0	18.928	0.92525	758	0.50837	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1534.98	33	chr4	87126176	.	C	T	1534.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.872;DP=818;ExcessHet=0.0000;FS=3.271;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.48;ReadPosRankSum=-1.565e+00;SOR=0.462	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1217	20	0	1	0
chr4	87131833	87131833	C	T	exonic	AFF1	.	nonsynonymous SNV	AFF1:NM_001313960:exon15:c.C2035T:p.P679S	.	.	17	1500	4	1	0	6	0.00199601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	T	0.01	B	0.018	B	0.193	N	0.821	D	0.975	L	0.05	T	-0.995	T	0.119	T	0.119	-0.264	2.733	2.8	1.014	0.839	5.597	0.031	0.0193035631981	7.7e-05	0.000798722	0.0009	9.97e-05	0.0003	0	0	0.0006	0	0.0039	0.0006986	108	154602	rs144598701	0.0005	0.0005	0.0004	0.0006	0.0030	0.0005	0.0004	0.0026	0.0025	9.421e-05	0.0002	0.0032	0	0	0.0016	0.0003	0.0006	0.0030	0.0003	0.0003	0.0003	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	2.407e-05	0	0.0002	0.0043	0	0	0	0.0003	0	0.0021	0.352	0.12226	T	0.699	0.05825	T	0.006	0.13644	B	0.018	0.18489	B	0.192508	0.16809	N	0.595565	0.820572	0.34770	D	0.835	0.21042	L	0.05	0.61923	T	-1.11	0.28906	N	0.092	0.09631	-0.9952	0.31245	T	0.119	0.41735	T	10	0.005586982	0.00124	T	0.019304	0.41626	T	0.031	0.07369	.	.	0.41921206133	0.41539	0.09670454187720627	0.09602	0.0501717393775	0.05505	0.377047836781	0.21837	T	0.103695	0.41259	T	-0.52469	0.00413	T	-0.528247	0.19463	T	0.0058071732486809	0.00063	T	0.759024	0.38317	T	0.01781661	0.00305	0.027865482	0.00973	0.01781661	0.00305	0.027865482	0.00973	-4.943	0.36325	T	.	.	0.076	0.05890	B	.;.;.	.;.;.	0.477986	0.08477	5.234	0.67065876134187585	0.08243	0.42523	0.26896	N	AEFDBI	0.033835	0.04085	N	-0.864244922444833	0.11701	0.5661341	-0.763781323556238	0.15385	0.8088325	0.817548039090179	0.24465	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.68	2.8	0.31881	0.382000	0.20364	0.246000	0.16368	-0.313000	0.06017	0.099000	0.22773	0.025000	0.21018	0.131000	0.19607	0.1496:0.6006:0.0:0.2498	5.597	0.16613	760	0.50470	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	955.98	36	chr4	87131833	.	C	T	955.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.483;DP=783;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=0.847;SOR=0.648	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr4	87318349	87318353	TCTCT	-	exonic	HSD17B13	.	frameshift deletion	HSD17B13:NM_178135:exon2:c.294_298del:p.E98Dfs*14,	.	.	437	1083	2	0	0	2	0.000922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0077	0.00139776	0.0005	9.612e-05	0.0011	0	0	0.0007	0.0011	0.0002	0.0003074	8	26028	rs540096704	0.0004	0.0004	0.0005	0.0004	0.0068	0.0004	0.0004	0.0051	0.0045	0.0005	0.0014	0.0005	0	3.744e-05	0.0068	0.0004	0.0008	0.0002	0.0007	0.0007	0.0006	0.0008	0.0030	0.0006	0.0005	0.0023	0.0021	0.0002	0	0.0030	0	0	0.0002	0.0102	0.0006	0.0028	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2147.94	33	chr4	87318348	.	ATCTCT	A	2147.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.56;DP=822;ExcessHet=0.0000;FS=2.197;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.03;ReadPosRankSum=0.297;SOR=0.857	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1219	20	0	1	0
chr4	87340560	87340560	G	A	exonic	HSD17B11	.	nonsynonymous SNV	HSD17B11:NM_016245:exon6:c.C742T:p.H248Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.0	B	0.0	B	0.268	N	1.000	N	0.55	N	0.83	T	-0.738	T	0.316	T	0.075	0.732	7.887	-3.48	-0.866	-0.856	6.877	0.144	0.0405090570995	0.0022	0.000599042	0.0017	0.0005	0.0009	0	0.0005	0.0028	0	6.067e-05	0.0016235	251	154602	rs145655841	0.0026	0.0026	0.0027	0.0025	0.0032	0.0025	0.0025	0.0031	0.0030	0.0004	0.0013	0.0007	2.522e-05	0.0001	0.0002	0.0032	0.0025	8.14e-05	0.0018	0.0018	0.0022	0.0014	0.0032	0.0016	0.0016	0.0029	0.0027	0.0005	0	0.0018	0.0009	0	0.0002	0	0.0032	0.0014	0	0.076	0.34269	T	0.004	0.76473	D	.	.	.	.	.	.	0.267646	0.15190	N	0.671775	0.999629	0.20843	N	.	.	.	-2.41	0.88533	D	-2.04	0.46842	N	0.1	0.10626	-0.7381	0.58550	T	0.316	0.68611	T	10	0.012391686	0.00266	T	0.040509	0.59414	D	0.144	0.38394	.	.	0.224531998449	0.22054	0.44628402819173124	0.44546	0.349652693418	0.36813	0.271529942751	0.06341	T	.	.	.	-0.471999	0.00826	T	-0.454135	0.27241	T	0.00286297266085967	0.00030	T	0.109589	0.00821	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.20274	B	.;.	.;.	0.065658	0.04751	1.377	0.83370032424748375	0.14689	0.03163	0.08134	N	AEFBI	0.095258	0.19248	N	-1.41790170922715	0.02482	0.1096439	-1.42741692156388	0.02981	0.138187	0.260164062967663	0.18780	0.732398	0.92422	0	0.743671	0.97443	0	0.653264	0.51672	0	0.727631	0.95156	0	.	.	5.64	-3.48	0.04438	-1.035000	0.03674	-1.693000	0.04903	-0.988000	0.01860	0.006000	0.17386	0.000000	0.08366	0.397000	0.26714	0.0:0.3414:0.3999:0.2587	6.877	0.23335	660	0.61921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	840.98	33	chr4	87340560	.	G	A	840.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=776;ExcessHet=0.0000;FS=2.815;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.45;ReadPosRankSum=0.197;SOR=1.015	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1097	20	0	1	0
chr4	87391031	87391031	G	C	exonic	HSD17B11	.	nonsynonymous SNV	HSD17B11:NM_016245:exon1:c.C40G:p.L14V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.91	T	0.702	P	0.116	B	0.002	N	1.000	N	1.285	L	-1.76	D	-0.630	T	0.347	T	0.251	0.527	6.853	5.98	2.838	1.399	11.381	0.284	0.0575445918238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.592	0.05772	T	0.541	0.11004	T	.	.	.	.	.	.	0.001551	0.38671	N	0.118405	1	0.08975	N	.	.	.	-1.97	0.85173	D	-0.23	0.10656	N	0.302	0.45426	-0.6303	0.63558	T	0.347	0.71194	T	10	0.14816457	0.28063	T	0.057545	0.67003	D	0.284	0.60219	0.46	0.52753	0.629359936291	0.62633	0.32608351256564205	0.32521	0.988129650574	0.73979	0.299627125263	0.10345	T	.	.	.	-0.0208096	0.48738	T	-0.267668	0.48054	T	0.285143670621333	0.24387	T	0.489851	0.15048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.26451	B	.;.	.;.	1.933040	0.24553	16.44	0.59807352564377148	0.06311	0.82609	0.41813	D	AEFDGBCIJ	0.270598	0.38663	N	-0.281281118777013	0.29871	1.660422	-0.242358349179818	0.30036	1.68772	0.999999999896917	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.98	5.98	0.97147	1.032000	0.29786	2.944000	0.35680	0.676000	0.76740	0.022000	0.19841	0.999000	0.35428	0.184000	0.21420	0.0:0.1355:0.7243:0.1403	11.381	0.49000	600	0.68026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	684.98	36	chr4	87391031	.	G	C	684.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.676;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.38;ReadPosRankSum=-2.710e-01;SOR=0.711	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1144	20	0	1	0
chr4	87435021	87435021	G	C	exonic	NUDT9	.	nonsynonymous SNV	NUDT9:NM_001248011:exon2:c.G148C:p.V50L	.	.	439	1078	5	0	0	5	0.00231374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.0	B	0.001	B	0.737	N	1.000	N	-0.69	N	2.56	T	-1.013	T	0.102	T	0.274	0.237	5.282	2.43	0.341	0.941	7.858	0.039	0.0228534642955	0.0002	0.00119808	0.0004	9.919e-05	0.0010	0	0	0.0005	0.0011	0.0002	0.0005175	80	154602	rs141228147	0.0003	0.0003	0.0003	0.0003	0.0073	0.0003	0.0003	0.0055	0.0049	0.0006	0.0012	0.0004	0	0	0.0073	0.0003	0.0007	0.0001	0.0006	0.0006	0.0005	0.0006	0.0024	0.0005	0.0004	0.0017	0.0015	0.0002	0	0.0024	0	0	0	0.0102	0.0005	0.0028	0	0.653	0.04802	T	0.389	0.16717	T	0.0	0.02946	B	0.0	0.01387	B	0.736857	0.09809	N	0.885835	1	0.08975	N	0.46	0.12951	N	-0.84	0.74265	T	-0.14	0.09135	N	0.089	0.06720	-1.0128	0.26038	T	0.102	0.37593	T	10	0.006555438	0.00149	T	0.022853	0.45774	T	0.039	0.10176	.	.	0.654317289335	0.65143	0.45189807958242256	0.45107	0.345455903003	0.36457	0.232745677233	0.02177	T	0.042964	0.31460	T	-0.389007	0.02730	T	-0.387906	0.34798	T	0.00068576936610043	0.00006	T	0.608739	0.23025	T	0.022162935	0.00861	0.02771605	0.00946	0.022162935	0.00861	0.02771605	0.00946	-3.298	0.13712	T	.	.	0.071	0.13690	B	.;.	.;.	0.712251	0.10810	7.493	0.7571153815000442	0.11181	0.05151	0.10964	N	AEFBI	0.082736	0.16756	N	-1.17057822566775	0.05449	0.2484709	-1.04006251116599	0.08915	0.4407539	0.176535377636151	0.17812	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.05	2.43	0.28797	1.478000	0.35050	3.955000	0.40703	-0.194000	0.09177	0.003000	0.16062	0.316000	0.24298	0.610000	0.31640	0.7478:0.0:0.2522:0.0	7.858	0.28657	548	0.72362	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1019.98	40	chr4	87435021	.	G	C	1019.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.171;DP=850;ExcessHet=0.0000;FS=2.740;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.20;ReadPosRankSum=-2.670e-01;SOR=0.454	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr4	87614674	87614674	G	A	exonic	DSPP	.	nonsynonymous SNV	DSPP:NM_014208:exon5:c.G2012A:p.S671N,	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	838	678	6	0	0	6	0.00440529	.	.	981478	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.44	T	0.97	D	0.696	P	.	.	0.950	N	1.385	L	-2.29	D	-0.315	T	0.575	D	0.121	-0.301	2.566	2.54	1.385	0.525	11.287	0.223	.	.	0.00419329	0.0046	0.0013	0.0024	0	0	0.0096	0	0.0005	0.0013325	206	154602	rs200839637	0.0097	0.0094	0.0099	0.0095	0.0114	0.0096	0.0095	0.0112	0.0111	0.0017	0.0091	0.0023	5.639e-05	0.0054	0.0083	0.0114	0.0087	0.0011	0.0075	0.0076	0.0080	0.0070	0.0122	0.0072	0.0070	0.0115	0.0112	0.0020	0	0.0115	0.0017	0	0.0035	0	0.0122	0.0047	0.0006	.	.	.	0.02	0.58613	D	0.97	0.56973	D	0.696	0.54017	P	.	.	.	.	0.949938	0.26521	N	0	0.06538	N	-2.29	0.87591	D	-0.62	0.18248	N	0.151	0.15469	-0.3154	0.74551	T	0.575	0.84639	D	9	0.0046225786	0.00096	T	.	.	.	0.223	0.52023	.	.	0.695313823607	0.69269	4.7231894002254537E-4	0.00043	.	.	.	.	.	0.077034	0.35561	T	-0.445753	0.01196	T	-0.402682	0.33073	T	0.024889325772433	0.01258	T	0.289271	0.05243	T	0.21238178	0.43588	0.23768647	0.49073	0.21238178	0.43588	0.23768647	0.49071	-6.484	0.50163	T	.	.	.	.	.	.	.	1.327723	0.17323	13.10	0.54694675023959471	0.05189	0.16020	0.19193	N	AEFGBCI	0.066007	0.12904	N	-0.299982378011202	0.29150	1.613941	-0.44165611348653	0.23787	1.299006	0.411513737354503	0.20216	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.567339	0.31927	0	.	.	2.54	2.54	0.29674	0.290000	0.18731	3.319000	0.37529	0.292000	0.18798	0.001000	0.13787	0.476000	0.25077	0.082000	0.17360	0.0:0.0:1.0:0.0	11.287	0.48462	500	0.76024	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	896.98	39	chr4	87614674	.	G	A	896.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.693e+00;DP=1053;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=0.239;SOR=0.723	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1246	20	0	1	0
chr4	87615117	87615117	G	A	exonic	DSPP	.	nonsynonymous SNV	DSPP:NM_014208:exon5:c.G2455A:p.D819N,	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1086	435	1	0	0	1	0.00114811	.	.	799370	not_provided|Inborn_genetic_diseases|not_specified	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.37	T	0.084	B	0.003	B	.	.	1.000	N	1.385	L	-2.36	D	-0.742	T	0.458	T	0.06	-0.909	0.420	-2.22	-1.420	0.356	5.794	0.178	0.213223610074	0.0002	.	0.0004	0	0	0	0	0.0009	0	0	7.12e-05	11	154602	rs371825362	0.0002	0.0002	0.0002	0.0002	0.0037	0.0002	0.0002	0.0025	0.0021	0.0001	0.0008	0.0032	0	0	0.0037	9.395e-05	0.0004	1.264e-05	0.0004	0.0004	0.0004	0.0004	0.0015	0.0003	0.0003	0.0010	0.0008	0.0002	0	0.0015	0.0036	0.0002	0	0.0061	0.0002	0.0005	0	.	.	.	0.229	0.25210	T	0.084	0.24799	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	-2.36	0.88143	D	-0.85	0.23156	N	0.05	0.02179	-0.7423	0.58334	T	0.458	0.78935	T	9	0.013437867	0.00285	T	0.213224	0.87395	D	0.178	0.44724	.	.	0.31411915649	0.31020	9.608739296773312E-4	0.00089	.	.	.	.	.	0.097175	0.39973	T	-0.383836	0.02946	T	-0.480263	0.24418	T	0.0112056434772244	0.00164	T	0.339066	0.07293	T	0.095233865	0.22408	0.047771994	0.06955	0.095233865	0.22408	0.047771994	0.06954	-4.522	0.31175	T	.	.	.	.	.	.	.	1.069395	0.14516	11.09	0.53407163892213028	0.04934	0.02924	0.07735	N	AEFGBCI	0.027941	0.02371	N	-1.61053318700251	0.01213	0.05273635	-1.75182523373402	0.00926	0.04144969	3.92953757532465E-4	0.06820	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.567339	0.31927	0	.	.	1.11	-2.22	0.06560	0.023000	0.13424	2.568000	0.33349	-0.726000	0.03757	0.000000	0.06391	0.580000	0.25617	0.000000	0.00833	0.517:0.0:0.483:0.0	5.794	0.17641	500	0.76024	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	475.98	40	chr4	87615117	.	G	A	475.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.483;DP=769;ExcessHet=0.0000;FS=6.990;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=0.394;SOR=0.556	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,871	20	0	1	0
chr4	87615398	87615398	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1101	241	102	25	53	205	0.239748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	8813.52	57	chr4	87615398	.	T	C,*	8813.52	.	AC=13,3;AF=0.310,0.071;AN=42;BaseQRankSum=-1.140e-01;DP=1014;ExcessHet=1.5101;FS=0.523;InbreedingCoeff=-0.0096;MLEAC=13,3;MLEAF=0.310,0.071;MQ=59.94;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-8.740e-01;SOR=0.624	GT:AD:DP:GQ:PL	0/0:46,0,0:46:99:0,120,1800,120,1800,1800	8	3	7	0
chr4	87615730	87615733	ATAG	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	983	222	100	33	184	350	0.272131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	6438.4	35	chr4	87615730	.	ATAG	A,*	6438.4	.	AC=12,23;AF=0.286,0.548;AN=42;BaseQRankSum=2.60;DP=1174;ExcessHet=2.5830;FS=1.919;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=57.85;MQRankSum=-3.073e+00;QD=6.83;ReadPosRankSum=1.06;SOR=0.767	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,13,12:25:99:0|1:87615730_ATAG_A:1673,547,459,560,0,555:87615730	0	2	2	0
chr4	87615734	87615767	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1008	200	99	33	182	347	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	5806.96	35	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	C,*	5806.96	.	AC=12,23;AF=0.286,0.548;AN=42;BaseQRankSum=1.10;DP=1195;ExcessHet=2.5830;FS=1.919;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=57.82;MQRankSum=-3.073e+00;QD=6.42;ReadPosRankSum=0.870;SOR=0.774	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,13,12:25:99:0|1:87615730_ATAG_A:1656,533,486,558,0,710:87615730	0	2	2	0
chr4	87615804	87615812	AGCAGTGAC	-	exonic	DSPP	.	nonframeshift deletion	DSPP:NM_014208:exon5:c.3142_3150del:p.D1053_S1055del,	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0	0	0	0	0	0	0.0017	3.84e-05	1	26028	rs771137605	0.0001	0.0001	7.532e-05	0.0002	0.0015	9.862e-05	9.248e-05	0.0012	0.0012	0	6.412e-05	0	6.61e-05	0	0.0004	2.452e-05	0.0001	0.0015	0.0002	0.0003	0.0001	0.0003	0.0020	0.0001	9.893e-05	0.0008	0.0005	0.0004	0	0.0001	0	0.0004	0	0	2.222e-05	0.0008	0.0020	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	795.94	42	chr4	87615803	.	TAGCAGTGAC	T	795.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.462;DP=905;ExcessHet=0.0000;FS=4.240;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.67;MQRankSum=-1.443e+00;QD=17.69;ReadPosRankSum=-1.916e+00;SOR=0.458	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1620	20	0	1	0
chr4	87615936	87615936	A	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1110	191	63	131	27	352	0.459689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7083	4716.91	13	chr4	87615936	.	A	G,*	4716.91	.	AC=11,7;AF=0.458,0.292;AN=24;BaseQRankSum=1.09;DP=703;ExcessHet=0.4078;FS=6.971;InbreedingCoeff=0.0517;MLEAC=16,10;MLEAF=0.667,0.417;MQ=57.27;MQRankSum=-3.640e+00;QD=9.93;ReadPosRankSum=0.431;SOR=1.090	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,26:26:76:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1101,1101,1101,76,76,0:87615920	0	3	4	9
chr4	87615956	87615956	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7083	3111.82	11	chr4	87615956	.	T	C,*	3111.82	.	AC=11,6;AF=0.458,0.250;AN=24;BaseQRankSum=1.06;DP=620;ExcessHet=2.6845;FS=12.079;InbreedingCoeff=-0.0149;MLEAC=17,9;MLEAF=0.708,0.375;MQ=57.02;MQRankSum=-4.168e+00;QD=7.06;ReadPosRankSum=-1.842e+00;SOR=1.055	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,26:26:76:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1101,1101,1101,76,76,0:87615920	0	3	5	9
chr4	87615962	87615962	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1185	208	24	81	24	210	0.30897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6923	3076.15	8	chr4	87615962	.	C	T,*	3076.15	.	AC=12,6;AF=0.462,0.231;AN=26;BaseQRankSum=0.443;DP=591;ExcessHet=0.7589;FS=9.385;InbreedingCoeff=0.0947;MLEAC=17,8;MLEAF=0.654,0.308;MQ=56.96;MQRankSum=-4.002e+00;QD=7.24;ReadPosRankSum=-1.720e+00;SOR=0.974	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,26:26:76:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1101,1101,1101,76,76,0:87615920	1	4	4	8
chr4	87615971	87615971	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1193	243	20	43	23	129	0.179054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7083	1753.25	7	chr4	87615971	.	C	T,*	1753.25	.	AC=11,6;AF=0.458,0.250;AN=24;BaseQRankSum=0.430;DP=572;ExcessHet=0.9330;FS=12.644;InbreedingCoeff=-0.0283;MLEAC=16,9;MLEAF=0.667,0.375;MQ=57.48;MQRankSum=-4.485e+00;QD=4.26;ReadPosRankSum=-1.839e+00;SOR=1.150	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,26:26:76:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1101,1101,1101,76,76,0:87615920	0	3	5	9
chr4	87615999	87616080	GATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGTGATAGCAGTGACAGCAGCA	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1069	426	12	14	1	41	0.044843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	2282.15	5	chr4	87615999	.	GATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGTGATAGCAGTGACAGCAGCA	G,*	2282.15	.	AC=4,2;AF=0.118,0.059;AN=34;BaseQRankSum=2.41;DP=492;ExcessHet=0.0022;FS=0.000;InbreedingCoeff=0.4539;MLEAC=5,3;MLEAF=0.147,0.088;MQ=59.19;MQRankSum=-2.624e+00;QD=15.42;ReadPosRankSum=0.297;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,24,0:24:73:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1079,73,0,1079,73,1080:87615920	13	1	2	4
chr4	87616001	87616001	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1074	417	12	15	4	46	0.0479452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	71.45	5	chr4	87616001	.	T	A,*	71.45	.	AC=2,6;AF=0.050,0.150;AN=40;DP=491;ExcessHet=0.0003;FS=0.000;InbreedingCoeff=0.5399;MLEAC=1,7;MLEAF=0.025,0.175;MQ=59.50;QD=0.48;SOR=0.692	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,24:24:73:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1079,1079,1080,73,73,0:87615920	15	1	0	1
chr4	87616007	87616007	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1058	432	2	4	26	36	0.0114416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	105.75	7	chr4	87616007	.	T	C,*	105.75	.	AC=4,6;AF=0.095,0.143;AN=42;DP=498;ExcessHet=0.0001;FS=0.000;InbreedingCoeff=0.6744;MLEAC=2,6;MLEAF=0.048,0.143;MQ=53.79;QD=0.70;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,24:24:73:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1079,1079,1080,73,73,0:87615920	15	2	0	0
chr4	87616008	87616008	G	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1045	447	12	14	4	44	0.0428266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	71.22	7	chr4	87616008	.	G	A,*	71.22	.	AC=2,4;AF=0.050,0.100;AN=40;DP=501;ExcessHet=0.0011;FS=0.642;InbreedingCoeff=0.4327;MLEAC=1,4;MLEAF=0.025,0.100;MQ=59.50;QD=0.52;SOR=0.800	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,24:24:73:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1079,1079,1080,73,73,0:87615920	16	1	0	1
chr4	87616019	87616028	CAGCAGCAAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	693.18	7	chr4	87616019	.	CAGCAGCAAT	C,*	693.18	.	AC=2,4;AF=0.050,0.100;AN=40;DP=533;ExcessHet=0.0013;FS=0.000;InbreedingCoeff=0.4839;MLEAC=2,4;MLEAF=0.050,0.100;MQ=50.57;QD=4.59;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,24:24:73:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1079,1079,1080,73,73,0:87615920	16	1	0	1
chr4	87616046	87616046	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1014	481	12	14	1	41	0.0399202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	641.05	17	chr4	87616046	.	C	A,*	641.05	.	AC=2,4;AF=0.059,0.118;AN=34;BaseQRankSum=-1.937e+00;DP=586;ExcessHet=0.0015;FS=0.000;InbreedingCoeff=0.3914;MLEAC=2,5;MLEAF=0.059,0.147;MQ=50.53;MQRankSum=1.39;QD=4.19;ReadPosRankSum=0.892;SOR=0.669	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,24:24:73:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1079,1079,1080,73,73,0:87615920	13	1	0	4
chr4	87616061	87616061	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	693.45	18	chr4	87616061	.	T	C,*	693.45	.	AC=2,4;AF=0.200,0.400;AN=10;BaseQRankSum=-1.239e+00;DP=595;ExcessHet=0.0096;FS=0.595;InbreedingCoeff=0.1523;MLEAC=5,9;MLEAF=0.500,0.900;MQ=54.88;MQRankSum=2.78;QD=4.50;ReadPosRankSum=2.08;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,24:24:73:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1079,1079,1080,73,73,0:87615920	1	1	0	16
chr4	87616064	87616109	TAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGACAGCAGTGAA	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	679.13	18	chr4	87616064	.	TAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGACAGCAGTGAA	T,*	679.13	.	AC=2,4;AF=0.071,0.143;AN=28;BaseQRankSum=-1.920e-01;DP=586;ExcessHet=0.0018;FS=0.595;InbreedingCoeff=0.3428;MLEAC=3,5;MLEAF=0.107,0.179;MQ=54.88;MQRankSum=2.78;QD=4.41;ReadPosRankSum=2.13;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,24:24:73:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1079,1079,1080,73,73,0:87615920	10	1	0	7
chr4	87616233	87616241	GACAGCAGC	-	exonic	DSPP	.	nonframeshift deletion	DSPP:NM_014208:exon5:c.3571_3579del:p.S1229_S1231del,	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	633	805	61	19	4	103	0.0579286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0138	.	0.0013	0.0102	0	0	0	0.0002	0	0	0.0001552	24	154602	rs779559161	0.0006	0.0005	0.0006	0.0005	0.0126	0.0005	0.0005	0.0116	0.0111	0.0126	0.0007	0.0008	0	0.0002	0.0037	0.0002	0.0016	4.211e-05	0.0035	0.0035	0.0036	0.0034	0.0109	0.0032	0.0031	0.0099	0.0096	0.0109	0	0.0011	0.0004	0	0.0004	0.0058	0.0003	0.0037	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	5326.02	10	chr4	87616232	.	TGACAGCAGC	CGACAGCAGC,T	5326.02	.	AC=7,1;AF=0.219,0.031;AN=32;BaseQRankSum=1.16;DP=1033;ExcessHet=0.0004;FS=3.054;InbreedingCoeff=0.5011;MLEAC=7,1;MLEAF=0.219,0.031;MQ=58.86;MQRankSum=0.680;QD=29.26;ReadPosRankSum=0.832;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:62,0,0:62:99:.:.:0,107,1800,107,1800,1800	11	3	1	5
chr4	87662593	87662593	G	A	exonic	DMP1	.	nonsynonymous SNV	DMP1:NM_001079911:exon5:c.G767A:p.R256H	Hypophosphatemic rickets, AR, Autosomal recessive	.	0	1507	14	1	0	16	0.00528053	.	.	299765	Hypophosphatemic_rickets,_autosomal_recessive,_1|DMP1-related_disorder|not_provided	MONDO:MONDO:0009430,MedGen:C4551495,OMIM:241520,Orphanet:289176|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.39	T	0.104	B	0.126	B	0.076	N	1.000	N	0.75	N	0.74	T	-1.035	T	0.057	T	0.147	-0.308	2.534	1.02	0.226	-0.144	6.963	0.025	0.014905615757	0.0022	0.00119808	0.0018	0.0004	0.0031	0.0001	0.0002	0.0026	0.0022	0.0002	0.0019146	296	154602	rs145237146	0.0019	0.0019	0.0019	0.0019	0.0069	0.0019	0.0018	0.0052	0.0046	0.0004	0.0045	0.0014	2.519e-05	0.0001	0.0069	0.0021	0.0023	0.0004	0.0020	0.0020	0.0019	0.0021	0.0078	0.0018	0.0017	0.0066	0.0062	0.0006	0	0.0078	0.0017	0	0	0.0034	0.0021	0.0019	0.0002	0.158	0.23905	T	0.309	0.20680	T	0.104	0.25941	B	0.126	0.32692	B	0.076101	0.21182	N	0.441060	1	0.08975	N	1.865	0.49290	L	0.74	0.50459	T	-3.44	0.67477	D	0.047	0.05037	-1.0346	0.18983	T	0.057	0.23866	T	10	0.005351305	0.00117	T	0.014906	0.35329	T	0.025	0.05312	.	.	0.454145904683	0.45038	0.07994858060983814	0.07929	0.0685784815088	0.07678	0.183100283146	0.00126	T	0.078318	0.35863	T	-0.579956	0.00193	T	-0.600152	0.12799	T	0.00803769021244275	0.00095	T	0.765223	0.39255	T	0.05139111	0.09430	0.052140538	0.08532	0.04348404	0.06785	0.05318207	0.08907	-4.42	0.29827	T	0.21188146941761274	0.28418	0.078	0.07224	B	.;.	.;.	0.406359	0.07776	4.461	0.85806136556211543	0.16124	0.02404	0.06808	N	AEFBI	0.048499	0.08283	N	-1.18915488753358	0.05163	0.2347304	-1.19036473884939	0.06070	0.2910689	1.31514151134682E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.3	1.02	0.19102	0.065000	0.14336	-1.625000	0.05036	-2.236000	0.00342	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3191:0.1216:0.5593:0.0	6.963	0.23789	419	0.81524	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1806.98	33	chr4	87662593	.	G	A	1806.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.094;DP=894;ExcessHet=0.0000;FS=6.843;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.34;ReadPosRankSum=0.751;SOR=0.317	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1025	20	0	1	0
chr4	87662622	87662622	C	A	exonic	DMP1	.	nonsynonymous SNV	DMP1:NM_001079911:exon5:c.C796A:p.L266I	Hypophosphatemic rickets, AR, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	299863	not_provided|Hypophosphatemic_rickets,_autosomal_recessive,_1	MedGen:C3661900|MONDO:MONDO:0009430,MedGen:C4551495,OMIM:241520,Orphanet:289176	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.19	T	0.576	P	0.588	P	0.506	N	1.000	N	1.7	L	0.3	T	-0.891	T	0.185	T	0.065	0.522	6.830	3.21	0.584	-0.153	9.802	0.109	.	0.0032	0.00259585	0.0044	0.0005	0.0025	0	0.0241	0.0049	0.01	0	0.0042043	650	154602	rs141979823	0.0039	0.0039	0.0040	0.0038	0.0047	0.0038	0.0038	0.0041	0.0039	0.0005	0.0047	0.0061	0	0.0273	0.0012	0.0032	0.0037	2.319e-05	0.0052	0.0052	0.0040	0.0065	0.0098	0.0049	0.0048	0.0085	0.0080	0.0006	0	0.0098	0.0072	0	0.0319	0	0.0036	0.0071	0	0.019	0.50132	D	0.299	0.20422	T	0.576	0.38723	P	0.588	0.50402	P	0.505532	0.11901	N	0.737565	1	0.08975	N	3.285	0.90273	M	0.3	0.58755	T	-1.74	0.41239	N	0.132	0.21839	-0.8911	0.48837	T	0.185	0.53421	T	10	0.004522145	0.00093	T	.	.	.	0.109	0.30843	.	.	0.690806697088	0.68815	0.01764701605231649	0.01719	0.206409230335	0.23064	0.29542696476	0.09720	T	0.221601	0.58522	T	-0.552925	0.00280	T	-0.556627	0.16696	T	0.0511700083911253	0.05705	T	0.837416	0.50983	T	0.093170755	0.21876	0.08520188	0.19655	0.08358851	0.19308	0.08520188	0.19654	-4.185	0.26534	T	0.6558238984111158	0.72859	0.087	0.11269	B	.;.	.;.	0.968861	0.13460	9.967	0.97279916230936747	0.33177	0.04475	0.10087	N	AEFBI	0.060164	0.11414	N	-0.797716863531307	0.13370	0.6581273	-0.899042177149242	0.12116	0.6214026	3.625620895247E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.17	3.21	0.35933	0.322000	0.19323	2.750000	0.34528	-0.276000	0.06580	0.000000	0.06391	0.031000	0.21272	0.000000	0.00833	0.1258:0.7207:0.0:0.1535	9.802	0.39940	419	0.81524	.;.	.	.	.	.	rs141979823	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1367.98	33	chr4	87662622	.	C	A	1367.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.590e+00;DP=897;ExcessHet=0.0000;FS=3.170;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.52;ReadPosRankSum=-2.220e-01;SOR=0.999	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1025	20	0	1	0
chr4	88046767	88046767	T	G	exonic	PKD2	.	nonsynonymous SNV	PKD2:NM_000297:exon6:c.T1445G:p.F482C,	Polycystic kidney disease 2	YES	4	1474	41	3	0	47	0.0156928	.	.	221477	not_specified|Autosomal_dominant_polycystic_kidney_disease|Polycystic_kidney_disease|Polycystic_kidney_disease_2|not_provided	MedGen:CN169374|MONDO:MONDO:0004691,MedGen:C0085413,Orphanet:730|Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900|MONDO:MONDO:0013131,MedGen:C2751306,OMIM:613095|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.519	P	0.586	P	0.001	D	1.000	D	0.895	L	-0.47	T	-0.359	T	0.340	T	0.444	3.759	19.08	5.61	2.130	6.099	15.800	0.185	0.174648661368	0.0024	0.000998403	0.0021	0.0002	0.0018	0	0.0005	0.0032	0.0022	0.0010	0.0020698	320	154602	rs75762896	0.0022	0.0022	0.0022	0.0022	0.0311	0.0021	0.0021	0.0274	0.0259	0.0007	0.0019	0.0095	0	0.0002	0.0311	0.0021	0.0034	0.0012	0.0018	0.0018	0.0020	0.0017	0.0025	0.0017	0.0016	0.0021	0.0020	0.0005	0	0.0025	0.0095	0	0.0002	0.0170	0.0024	0.0057	0.0014	0.005	0.63226	D	0.012	0.63918	D	0.519	0.37512	P	0.586	0.50343	P	0.000986	0.40743	D	0.256644	0.937535	0.81001	D	1.39	0.34934	L	-0.47	0.70133	T	-1.31	0.32791	N	0.366	0.40765	-0.3586	0.73305	T	0.340	0.70575	T	10	0.013403147	0.00284	T	0.174649	0.85097	D	0.185	0.45933	.	.	0.275349458131	0.27150	0.7992809757317741	0.79881	0.628865736307	0.56943	0.429157376289	0.29093	T	0.284679	0.65746	T	-0.300048	0.08654	T	-0.209322	0.53761	T	0.0306232327871647	0.02086	T	0.80282	0.44919	T	0.22798562	0.45510	0.15149388	0.35683	0.32848933	0.55347	0.19268322	0.42796	-7.815	0.59802	D	0.23977873573515104	0.32479	0.088	0.11749	B	.	.	4.653233	0.74191	26.1	0.99382475913230373	0.61935	0.97013	0.72187	D	AEFBI	0.775507	0.70890	D	0.341962011717758	0.58317	4.003165	0.450285093661695	0.64736	4.73565	0.999999796872556	0.74766	0.706548	0.73137	0	0.601575	0.49859	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.61	5.61	0.85347	6.082000	0.70966	7.856000	0.71202	0.663000	0.56723	0.996000	0.39380	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.800	0.78216	489	0.76795	Polycystin cation channel, PKD1/PKD2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.04762	2244.11	102	chr4	88046767	.	T	G	2244.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-9.200e-02;DP=888;ExcessHet=0.1072;FS=5.382;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.67;ReadPosRankSum=1.76;SOR=0.708	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1223	19	0	2	0
chr4	88075542	88075542	G	A	exonic	PKD2	.	nonsynonymous SNV	PKD2:NM_000297:exon15:c.G2755A:p.D919N,	Polycystic kidney disease 2	.	.	.	.	.	.	.	.	.	.	1377951	Autosomal_dominant_polycystic_kidney_disease|Polycystic_kidney_disease_2	MONDO:MONDO:0004691,MedGen:C0085413,Orphanet:730|MONDO:MONDO:0013131,MedGen:C2751306,OMIM:613095	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.991	D	0.627	P	0.000	D	1.000	D	1.905	M	-0.55	T	0.798	D	0.815	D	0.125	5.524	35	5.2	2.409	7.352	18.727	0.422	0.1011472711	7.7e-05	0.000199681	4.942e-05	9.61e-05	0	0.0001	0	2.997e-05	0	0.0001	4.53e-05	7	154602	rs370489860	4.994e-05	4.994e-05	4.356e-05	5.638e-05	0.0008	4.059e-05	3.734e-05	0.0006	0.0005	0.0002	0	0	0.0008	0	0	2.158e-05	1.656e-05	0.0001	3.94e-05	3.937e-05	1.285e-05	6.714e-05	0.0004	1.715e-05	1.129e-05	6.84e-05	2.862e-05	4.811e-05	0	0	0	0.0004	0	0	2.94e-05	0	0	0.003	0.68238	D	0.011	0.64786	D	0.991	0.64070	D	0.627	0.51631	P	0.000000	0.84330	D	0.050327	1	0.81001	D	1.955	0.52871	M	-0.55	0.92938	T	-2.28	0.50830	N	0.258	0.43514	0.798	0.94391	D	0.815	0.93754	D	10	0.21788475	0.38414	T	0.101147	0.77386	D	0.422	0.73078	.	.	0.865583387868	0.86428	0.31310858160465765	0.31223	0.548579291965	0.51791	0.646223843098	0.59449	T	0.469354	0.80292	T	-0.130924	0.31346	T	-0.161412	0.58226	T	0.317460864782333	0.25719	T	0.939006	0.77019	D	0.28936866	0.51933	0.3255371	0.58468	0.29991817	0.52897	0.28330585	0.54322	-5.563	0.42453	T	.	.	0.115	0.22969	B	.;.;.	.;.;.	4.746627	0.76605	26.5	0.99921602758183004	0.98787	0.98566	0.84167	D	AEFDBIJ	0.896156	0.83692	D	0.643890330190432	0.75975	6.401713	0.653675570966984	0.78884	6.967105	0.999999999999948	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	7.468000	0.79953	11.517000	0.93029	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.727	0.91682	616	0.66398	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2144.98	33	chr4	88075542	.	G	A	2144.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=875;ExcessHet=0.0000;FS=1.843;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=0.774;SOR=0.844	GT:AD:DP:GQ:PL	0/1:91,87:178:99:2159,0,2143	20	0	1	0
chr4	88423879	88423879	G	A	exonic	HERC6	.	nonsynonymous SNV	HERC6:NM_001165136:exon14:c.G1733A:p.R578Q	.	.	.	.	.	.	.	.	.	.	.	721112	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.41	T	0.009	B	0.002	B	0.761	N	1.000	N	-0.345	N	1.2	T	-1.010	T	0.012	T	0.036	1.037	9.237	-6.47	-1.369	-2.341	8.243	0.032	.	0.0084	0.0115815	0.0067	0.0601	0.0034	0	0	0.0003	0	0.0001	0.0026196	405	154602	rs61734924	0.0008	0.0009	0.0009	0.0007	0.0308	0.0008	0.0008	0.0292	0.0285	0.0308	0.0016	0	0	0	0.0014	4.738e-05	0.0024	5.318e-05	0.0094	0.0094	0.0098	0.0089	0.0323	0.0090	0.0088	0.0309	0.0303	0.0323	0	0.0040	0	0	0	0.0034	8.826e-05	0.0066	0	0.513	0.07425	T	0.789	0.04207	T	0.009	0.15093	B	0.002	0.06944	B	0.761299	0.06541	N	1.146940	1	0.08975	N	-0.155	0.04359	N	1.2	0.38236	T	0.22	0.06138	N	0.077	0.05162	-1.0096	0.27043	T	0.012	0.04558	T	10	0.0015139878	0.00017	T	.	.	.	0.032	0.07718	.	.	0.107399877778	0.10242	0.09467319035455814	0.09399	0.17690109213	0.19905	0.217533454299	0.01172	T	6.4E-4	0.00278	T	-0.709457	0.00032	T	-0.767487	0.02852	T	0.00261547141016889	0.00027	T	0.691931	0.30130	T	0.02655087	0.01727	0.033303693	0.02203	0.02655087	0.01727	0.033303693	0.02202	-4.299	0.39456	T	.	.	0.074	0.05060	B	.;.	.;.	-0.509373	0.01836	0.146	0.88112122945250526	0.17725	0.00293	0.01568	N	AEFI	0.025156	0.01678	N	-1.34486097178169	0.03178	0.1415541	-1.3510666506596	0.03793	0.177672	0.020511544084308	0.13265	0.638212	0.43195	0	0.633656	0.55848	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	4.77	-6.47	0.01731	-2.228000	0.01292	-2.632000	0.03527	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.985000	0.61073	0.2403:0.0:0.6293:0.1305	8.243	0.30833	723	0.55174	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1071.98	34	chr4	88423879	.	G	A	1071.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.520e-01;DP=775;ExcessHet=0.0000;FS=0.822;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=-2.500e-02;SOR=0.846	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1071	20	0	1	0
chr4	88442296	88442296	C	T	exonic	HERC6	.	nonsynonymous SNV	HERC6:NM_001165136:exon22:c.C2797T:p.R933C	.	.	434	1086	1	1	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.068	B	0.028	B	0.451	N	0.591	N	0.465	N	0.31	T	-0.985	T	0.094	T	0.17	0.929	8.786	0.802	0.310	-0.186	5.490	0.056	0.0104113690788	8.4e-05	.	4.512e-05	0	0	0	0	3.244e-05	0	0.0002	5.82e-05	9	154602	rs370325778	7.117e-05	7.114e-05	6.536e-05	7.704e-05	0.0002	5.982e-05	5.59e-05	0.0001	0.0001	0	2.239e-05	0	0	0	0.0002	7.286e-05	3.313e-05	0.0002	2.629e-05	3.284e-05	1.285e-05	4.036e-05	4.409e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.413e-05	0	0	0	0	0	0	4.409e-05	0	0	0.111	0.29029	T	0.131	0.34959	T	0.055	0.23728	B	0.016	0.21332	B	0.451489	0.12502	N	0.719558	0.972295	0.25608	N	0.33	0.10399	N	0.31	0.58613	T	-0.49	0.36385	N	0.164	0.17278	-0.9854	0.33735	T	0.094	0.35658	T	10	0.07416275	0.11300	T	0.010411	0.26915	T	0.056	0.15993	.	.	0.564208378351	0.56084	0.3973146840843445	0.39646	0.253572842962	0.27933	0.314834088087	0.12639	T	0.02155	0.16761	T	-0.392503	0.02592	T	-0.505388	0.21790	T	0.0386554961563793	0.03448	T	0.69903	0.30897	T	0.35824966	0.57702	0.18033119	0.40825	0.35824966	0.57702	0.18033119	0.40824	-3.898	0.23878	T	.	.	0.093	0.13969	B	.;.	.;.	1.703691	0.21698	15.31	0.9237057149246326	0.21776	0.04167	0.09661	N	AEFBI	0.046447	0.07714	N	-0.867638875325537	0.11619	0.5616765	-0.793454965072147	0.14655	0.7668724	0.990671121663583	0.32232	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.69	0.802	0.17828	-0.217000	0.09258	-6.233000	0.01457	-0.947000	0.02050	0.001000	0.13787	0.000000	0.08366	0.492000	0.28837	0.0:0.5373:0.14:0.3228	5.490	0.16063	734	0.53889	.;HECT domain|HECT domain|HECT domain|HECT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1205.98	34	chr4	88442296	.	C	T	1205.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.636;DP=810;ExcessHet=0.0000;FS=3.417;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.42;ReadPosRankSum=0.260;SOR=0.429	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1309	20	0	1	0
chr4	88479413	88479413	C	T	exonic	HERC5	.	nonsynonymous SNV	HERC5:NM_016323:exon13:c.C1643T:p.T548I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.014	B	0.017	B	0.293	N	1.000	N	0.805	L	1.23	T	-1.011	T	0.061	T	0.101	1.462	10.83	-2.94	-0.589	-0.937	7.553	0.022	0.00639344397141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	0	1.376e-06	1.161e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.21801	T	0.223	0.35082	T	0.014	0.16867	B	0.017	0.18140	B	0.293017	0.03906	N	1.509860	1	0.08975	N	0.75	0.19020	N	1.18	0.37746	T	-3.17	0.66436	D	0.118	0.10769	-1.0110	0.26604	T	0.061	0.25599	T	10	0.07989028	0.12903	T	0.006393	0.16812	T	0.022	0.04323	0.492	0.57890	0.317378411342	0.31341	0.14304162160210399	0.14227	0.289108693638	0.31315	0.325938999653	0.14320	T	0.29077	0.66354	T	-0.294502	0.09188	T	-0.660808	0.08212	T	0.0649893581867218	0.07930	T	0.351965	0.10319	T	0.05585981	0.10912	0.09094519	0.21356	0.05585981	0.10912	0.09094519	0.21356	-4.604	0.32222	T	.	.	0.166	0.40328	B	.;.	.;.	-0.247997	0.02853	0.402	0.97375867339527744	0.33647	0.00977	0.03727	N	AEFDBI	0.028562	0.02539	N	-1.28226001168528	0.03889	0.1745493	-1.33546604418693	0.03980	0.1867894	0.989836303408735	0.31950	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	4.82	-2.94	0.05245	-1.189000	0.03170	-0.426000	0.09253	-0.376000	0.05418	0.000000	0.06391	0.000000	0.08366	0.333000	0.25271	0.2412:0.4996:0.2592:0.0	7.553	0.26978	812	0.42537	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1062.98	39	chr4	88479413	.	C	T	1062.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=872;ExcessHet=0.0000;FS=1.771;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.51;ReadPosRankSum=0.528;SOR=0.572	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr4	88697328	88697328	C	T	exonic	NAP1L5	.	nonsynonymous SNV	NAP1L5:NM_153757:exon1:c.G427A:p.E143K,	.	.	397	1108	16	1	0	18	0.0080573	.	.	698679	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.41	T	0.862	P	0.278	B	.	.	1.000	N	1.15	L	0.95	T	-1.071	T	0.046	T	0.256	2.185	13.26	0.937	0.313	1.389	5.200	0.044	0.00233030565102	.	0.00119808	0.0021	0.0004	0.0010	0	0	0.0031	0.0055	0.0013	0.0019469	301	154602	rs187220478	0.0020	0.0020	0.0019	0.0021	0.0099	0.0019	0.0019	0.0078	0.0071	0.0007	0.0019	0.0041	0	1.873e-05	0.0099	0.0021	0.0025	0.0012	0.0024	0.0024	0.0026	0.0022	0.0027	0.0022	0.0021	0.0024	0.0023	0.0005	0.1162	0.0020	0.0035	0	0	0.0034	0.0027	0.0038	0.0006	0.319	0.13610	T	0.0	0.92824	D	0.862	0.47435	P	0.278	0.40236	B	.	.	.	.	0.999996	0.08975	N	1.585	0.39878	L	0.95	0.43279	T	-1.3	0.32590	N	0.226	0.25377	-1.0706	0.09282	T	0.046	0.19680	T	9	0.0035840273	0.00065	T	0.00233	0.04507	T	0.044	0.11924	.	.	0.213499824651	0.20940	0.20617337297224617	0.20534	0.295038771139	0.31913	0.719996213913	0.70046	T	0.081148	0.36528	T	-0.495407	0.00607	T	-0.497624	0.22594	T	0.00865093068815162	0.00106	T	0.467953	0.13790	T	0.11509076	0.27164	0.12094661	0.29184	0.11509076	0.27163	0.12094661	0.29183	-10.481	0.76738	D	.	.	0.260	0.49499	B	.	.	2.233190	0.28512	17.82	0.97476942295010238	0.34167	0.02751	0.07435	N	AEFDGBHCI	0.032526	0.03691	N	-0.564380455674891	0.20035	1.053207	-0.715274310773102	0.16580	0.8777976	0.999998883342712	0.74766	0.652421	0.48094	0	0.516746	0.08562	0	0.64067	0.45733	0	0.665054	0.64577	0	.	.	1.88	0.937	0.18618	2.747000	0.47151	-0.043000	0.12644	0.539000	0.25131	0.141000	0.23520	0.000000	0.08366	0.962000	0.52141	0.343:0.657:0.0:0.0	5.200	0.14584	785	0.46916	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	533.98	34	chr4	88697328	.	C	T	533.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=770;ExcessHet=0.0000;FS=0.966;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.12;ReadPosRankSum=0.00;SOR=0.558	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1136	20	0	1	0
chr4	89248684	89248684	C	A	exonic	GPRIN3	.	nonsynonymous SNV	GPRIN3:NM_198281:exon2:c.G1427T:p.C476F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.075	B	0.053	B	0.310	N	1.000	N	0.345	N	2.92	T	-0.923	T	0.013	T	0.129	1.473	10.87	0.554	0.097	-0.782	5.598	0.031	0.00775043867878	7.7e-05	.	2.471e-05	0	0	0	0	4.495e-05	0	0	1.94e-05	3	154602	rs367974814	6.156e-06	6.156e-06	1.361e-06	1.1e-05	0.0002	2.9e-06	2.1e-06	2.62e-06	1.68e-06	0	0	0	0	0	0.0002	6.295e-06	1.656e-05	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.014	0.53172	D	0.694	0.05844	T	0.075	0.24198	B	0.053	0.25678	B	0.309817	0.14453	N	0.513841	1	0.08975	N	0.345	0.11182	N	2.92	0.09915	T	-1.54	0.37375	N	0.102	0.08646	-0.9234	0.45084	T	0.013	0.05129	T	10	0.06233555	0.07953	T	0.00775	0.20563	T	0.031	0.07369	.	.	0.0297737177859	0.01360	0.09735385992318572	0.09666	0.0510779051135	0.05618	0.2378911376	0.02603	T	0.034425	0.23318	T	-0.349789	0.04741	T	-0.724738	0.04570	T	0.0310574043542147	0.02155	T	0.354964	0.08031	T	0.14437054	0.33141	0.10704653	0.25763	0.14437054	0.33141	0.10704653	0.25762	-4.0	0.23804	T	.	.	0.076	0.06525	B	.;.	.;.	0.355930	0.07288	3.895	0.94099124561589387	0.24261	0.12446	0.17274	N	AEFDBI	0.197615	0.32453	N	-1.09692292559889	0.06699	0.309151	-1.09801680005186	0.07739	0.3776583	0.999596949778468	0.40745	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.31	0.554	0.16430	-0.587000	0.05874	-1.100000	0.06331	-0.188000	0.09543	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.122:0.5317:0.0:0.3463	5.598	0.16621	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1839.98	86	chr4	89248684	.	C	A	1839.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.479e+00;DP=1696;ExcessHet=0.0000;FS=0.641;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.73;ReadPosRankSum=-4.030e-01;SOR=0.754	GT:AD:DP:GQ:PL	0/0:83,0:83:99:0,120,1800	20	0	1	0
chr4	89248723	89248723	A	G	exonic	GPRIN3	.	nonsynonymous SNV	GPRIN3:NM_198281:exon2:c.T1388C:p.L463P,	.	.	432	1086	3	1	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.012	B	0.006	B	0.784	N	1.000	N	0.345	N	2.65	T	-0.960	T	0.016	T	0.096	1.543	11.11	-3.02	-0.341	-0.529	1.080	0.015	.	0.0002	0.00698882	0.0042	0	0.0004	0.0005	0	0.0001	0.0044	0.0297	0.0036739	568	154602	rs151231128	0.0018	0.0018	0.0010	0.0026	0.0278	0.0018	0.0017	0.0269	0.0265	8.961e-05	8.944e-05	0	0.0004	1.872e-05	0.0026	8.004e-05	0.0021	0.0278	0.0009	0.0009	0.0005	0.0013	0.0257	0.0008	0.0007	0.0220	0.0207	4.813e-05	0	0	0	0.0010	0	0	5.88e-05	0.0009	0.0257	0.108	0.29420	T	0.323	0.18959	T	0.012	0.16265	B	0.006	0.12133	B	0.783641	0.06669	N	1.183400	0.999985	0.18198	N	0.975	0.24501	L	2.65	0.12676	T	-0.67	0.19297	N	0.106	0.10198	-0.9602	0.39143	T	0.016	0.06711	T	10	0.0023795068	0.00035	T	.	.	.	0.015	0.02232	.	.	0.0138822411134	0.00435	0.10690090498556341	0.10620	0.0600706684607	0.06680	0.278780698776	0.07323	T	0.003473	0.02879	T	-0.693168	0.00040	T	-0.746152	0.03638	T	0.00469239226640054	0.00050	T	0.335866	0.07168	T	0.047295425	0.08062	0.076753885	0.17030	0.047295425	0.08061	0.076753885	0.17030	-3.361	0.14537	T	.	.	0.075	0.07460	B	.;.	.;.	0.473282	0.08429	5.185	0.90898581102564713	0.20147	0.02745	0.07425	N	AEFDBI	0.062074	0.11910	N	-1.12306451680512	0.06234	0.2864517	-1.16467511038423	0.06509	0.3135067	0.999978954908935	0.50053	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.89	-3.02	0.05116	-0.508000	0.06426	0.350000	0.17468	0.756000	0.94297	0.031000	0.20493	0.006000	0.19429	0.023000	0.12082	0.1894:0.1341:0.3172:0.3593	1.080	0.01539	906	0.23090	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2058.98	86	chr4	89248723	.	A	G	2058.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.055e+00;DP=1739;ExcessHet=0.0000;FS=2.073;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=-6.350e-01;SOR=0.925	GT:AD:DP:GQ:PL	0/0:83,0:83:99:0,120,1800	20	0	1	0
chr4	89912002	89912002	G	A	exonic	MMRN1	.	nonsynonymous SNV	MMRN1:NM_007351:exon3:c.G802A:p.D268N	.	.	.	.	.	.	.	.	.	.	.	2335860	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.435	B	0.185	B	0.015	N	0.980	N	0.55	N	0.98	T	-0.942	T	0.134	T	0.259	3.128	16.46	3.37	0.794	2.916	9.267	0.021	0.0252644475801	0.0008	0.000599042	0.0008	9.762e-05	0.0006	0	0.0002	0.0014	0	0.0001	0.0008538	132	154602	rs142127543	0.0015	0.0015	0.0015	0.0014	0.0018	0.0014	0.0014	0.0017	0.0017	0.0003	0.0006	0.0028	0	5.63e-05	0	0.0018	0.0011	3.524e-05	0.0012	0.0012	0.0014	0.0010	0.0020	0.0011	0.0010	0.0017	0.0016	0.0003	0	0.0013	0.0038	0	0	0.0034	0.0020	0.0033	0	0.003	0.68238	D	0.019	0.65728	D	0.285	0.32186	B	0.185	0.36047	B	0.015169	0.28322	N	0.334685	0.99076	0.25139	N	1.15	0.29295	L	0.98	0.65378	T	-1.51	0.36787	N	0.54	0.56748	-0.9415	0.42378	T	0.134	0.44720	T	10	0.02394855	0.00643	T	0.025264	0.48245	D	0.021	0.04004	.	.	0.629969601443	0.62694	0.2765121263735884	0.27564	0.0216506402081	0.02158	0.44044393301	0.30636	T	0.09991	0.43057	T	-0.369475	0.03621	T	-0.322516	0.42298	T	0.0177909948238896	0.00508	T	0.881612	0.60121	D	0.17925742	0.38987	0.15039742	0.35470	0.17925742	0.38987	0.15039742	0.35470	-4.531	0.31292	T	.	.	0.158	0.47827	B	.;.;.	.;.;.	3.372122	0.46602	22.3	0.99771566314384019	0.85918	0.87578	0.47163	D	AEFBI	0.344255	0.43980	N	-0.176085917725651	0.34133	1.944545	-0.0718243907107429	0.36561	2.12923	0.597770625437228	0.21700	0.67177	0.52595	0	0.573888	0.26702	0	0.618467	0.43123	0	0.711	0.71501	0	.	.	5.15	3.37	0.37692	2.974000	0.48964	7.590000	0.61220	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.075:0.0:0.7812:0.1438	9.267	0.36810	871	0.31377	EMI domain|EMI domain;EMI domain|EMI domain;EMI domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1246.98	34	chr4	89912002	.	G	A	1246.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=816;ExcessHet=0.0000;FS=0.719;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=-2.459e+00;SOR=0.703	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1106	20	0	1	0
chr4	89953411	89953411	G	T	exonic	MMRN1	.	nonsynonymous SNV	MMRN1:NM_007351:exon8:c.G3680T:p.R1227L	.	.	435	1079	8	0	0	8	0.00369344	.	.	2820033	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	D	0.999	D	1.735	L	-2.05	D	0.400	D	0.633	D	0.789	3.194	16.69	5.14	2.763	6.293	17.651	0.704	.	0.0048	0.00459265	0.0034	0.0092	0.0048	0	0.0002	0.0036	0.0108	0.0006	0.0033893	524	154602	rs147451161	0.0023	0.0024	0.0023	0.0023	0.0182	0.0023	0.0022	0.0154	0.0143	0.0066	0.0065	0.0270	0	0.0002	0.0182	0.0015	0.0066	0.0005	0.0048	0.0048	0.0048	0.0048	0.0092	0.0045	0.0044	0.0080	0.0075	0.0075	0	0.0092	0.0302	0	0.0002	0.0204	0.0021	0.0090	0.0002	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000010	0.62929	D	0.000000	0.977947	0.46733	D	1.5	0.37844	L	-2.05	0.85799	D	-3.89	0.73579	D	0.704	0.87265	0.400	0.89097	D	0.633	0.87131	D	10	0.010451436	0.00232	T	.	.	.	0.704	0.89376	.	.	0.928513143006	0.92778	0.723997401901554	0.72343	0.0867948037447	0.09792	0.685833334923	0.65106	T	0.437702	0.78363	T	-0.0756161	0.40425	T	0.124297	0.78519	D	0.0235939277011258	0.01094	T	0.89481	0.64041	D	0.52166826	0.68355	0.4430225	0.67533	0.52166826	0.68356	0.4430225	0.67533	-6.173	0.47704	T	.	.	0.890	0.84549	P	.;.;.	.;.;.	4.504053	0.70476	25.5	0.99760481233316733	0.85011	0.98264	0.81063	D	AEFDBI	0.819297	0.74035	D	0.611869349107216	0.73923	6.046213	0.555673810495086	0.71794	5.709302	0.98018772161836	0.30108	0.706548	0.73137	0	0.588015	0.36545	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	5.14	5.14	0.70008	6.367000	0.73038	10.909000	0.84175	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.292000	0.24309	0.0:0.0:1.0:0.0	17.651	0.88066	871	0.31377	C1q domain|C1q domain;C1q domain|C1q domain;C1q domain|C1q domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	812.98	34	chr4	89953411	.	G	T	812.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.066;DP=761;ExcessHet=0.0000;FS=1.110;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.78;ReadPosRankSum=-1.190e-01;SOR=0.456	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1114	20	0	1	0
chr4	90308304	90308304	G	A	exonic	CCSER1	.	nonsynonymous SNV	CCSER1:NM_001145065:exon2:c.G20A:p.R7K	.	.	435	1056	28	3	0	34	0.0158434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	0.869	D	1.525	L	0.38	T	-0.155	T	0.386	T	0.58	5.157	32	5.14	2.789	9.121	19.574	0.250	.	0.0012	0.00179712	0.0041	0.0002	0.0029	0	0.0010	0.0033	0.0056	0.0150	0.0015718	243	154602	rs199614921	0.0014	0.0014	0.0012	0.0017	0.0097	0.0014	0.0013	0.0076	0.0069	0.0002	0.0010	0.0003	0	0.0002	0.0097	0.0011	0.0020	0.0073	0.0012	0.0012	0.0011	0.0014	0.0083	0.0011	0.0010	0.0063	0.0055	0.0003	0	0.0016	0.0003	0	0.0002	0.0068	0.0015	0.0024	0.0083	0.0	0.91255	D	0.0	0.92824	D	0.998	0.90584	D	0.99	0.84481	D	0.000000	0.84330	D	0.000000	0.869434	0.35535	D	0.975	0.24501	L	0.38	0.63240	T	-1.74	0.41239	N	0.756	0.75466	-0.1550	0.78793	T	0.386	0.74172	T	10	0.009298861	0.00210	T	.	.	.	0.250	0.55888	.	.	0.529861178392	0.52634	0.4101270892965929	0.40928	0.3886121274	0.40126	0.821383595467	0.85240	D	0.15335	0.49416	T	-0.267719	0.12012	T	-0.15389	0.58899	T	0.0490782486433415	0.05338	T	0.915508	0.71859	D	0.68549484	0.77266	0.68796575	0.81645	0.68549484	0.77268	0.68796575	0.81646	-6.656	0.58436	T	.	.	0.315	0.56291	B	.;.	.;.	4.726994	0.76090	26.4	0.99709133527626459	0.81213	0.99785	0.99449	D	AEFI	0.910022	0.86741	D	0.821701050646659	0.87442	9.21981	0.821121723663698	0.91222	10.779	0.999995562841401	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.14	5.14	0.70008	9.224000	0.94368	11.091000	0.85930	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.574	0.95428	928	0.17405	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	474.98	37	chr4	90308304	.	G	A	474.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.420e-01;DP=758;ExcessHet=0.0000;FS=2.561;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.79;ReadPosRankSum=-3.870e-01;SOR=0.366	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1275	20	0	1	0
chr4	93224750	93224750	G	A	exonic	GRID2	.	nonsynonymous SNV	GRID2:NM_001286838:exon6:c.G815A:p.R272H	Spinocerebellar ataxia, autosomal recessive 18, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3081725	Autosomal_recessive_spinocerebellar_ataxia_18	MONDO:MONDO:0014530,MedGen:C4015505,OMIM:616204,Orphanet:363432	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.53	T	0.998	D	0.89	P	0.002	N	0.946	D	0.55	N	-1.71	D	-0.154	T	0.517	D	0.46	2.861	15.53	5.53	2.596	3.378	19.489	0.359	0.0793314892116	.	.	4.979e-05	0	0	0	0	3.017e-05	0	0.0002	4.53e-05	7	154602	rs575224950	9.107e-05	9.303e-05	8.313e-05	9.909e-05	0.0003	7.831e-05	7.312e-05	0.0002	0.0002	2.992e-05	2.242e-05	0	0	0	0.0002	9.272e-05	6.631e-05	0.0003	5.919e-05	7.221e-05	9.007e-05	2.691e-05	0.0002	3.08e-05	2.212e-05	4.767e-05	3.34e-05	2.411e-05	0	0	0	0	0	0	0.0001	0	0.0002	0.287	0.33091	T	0.129	0.35582	T	0.984	0.60733	D	0.621	0.51426	P	0.001684	0.38271	N	0.208640	0.94577	0.37501	D	0.55	0.14455	N	-1.71	0.83157	D	-0.68	0.56144	N	0.366	0.42834	-0.1536	0.78827	T	0.517	0.81932	D	10	0.20381647	0.36550	T	0.079331	0.73209	D	0.359	0.67962	0.504	0.59770	0.762629469593	0.76046	0.3884049074127909	0.38755	0.299294864135	0.32296	0.617617249489	0.55392	T	0.164234	0.50961	T	-0.162522	0.26374	T	-0.175036	0.56981	T	0.144015564036604	0.16616	T	0.965803	0.87368	D	0.20078054	0.42065	0.13366981	0.32047	0.20078054	0.42065	0.13366981	0.32047	-6.998	0.58792	T	0.14192313816769106	0.16008	0.118	0.26357	B	.;.;.;.	.;.;.;.	3.864215	0.56056	23.7	0.99857909279775448	0.93639	0.71018	0.34834	D	AEFI	0.273811	0.38914	N	0.225479262513881	0.52437	3.417823	0.273229292387004	0.53981	3.564667	0.93478684228662	0.27186	0.650006	0.45971	0	0.573888	0.26702	0	0.606735	0.37207	0	0.564101	0.26826	0	.	.	5.53	5.53	0.82530	2.885000	0.48269	11.883000	0.98886	0.676000	0.76740	0.165000	0.23867	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.489	0.95036	887	0.27948	Receptor, ligand binding region;.;Receptor, ligand binding region;Receptor, ligand binding region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	578.98	37	chr4	93224750	.	G	A	578.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.030;DP=749;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=-6.360e-01;SOR=0.533	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1068	20	0	1	0
chr4	93829637	93829637	C	A	exonic	ATOH1	.	nonsynonymous SNV	ATOH1:NM_005172:exon1:c.C711A:p.H237Q,	.	.	425	1075	21	1	0	23	0.0105844	.	.	698688	ATOH1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.37	T	0.001	B	0.001	B	0.001	N	0.992	N	0.805	L	-4.35	D	-0.197	T	0.644	D	0.201	1.623	11.38	1.4	0.075	-0.940	4.598	0.325	.	0.0063	0.00399361	0.0071	0.0012	0.0087	0	0.0063	0.0094	0.0062	0.0037	0.0066817	1033	154602	rs35182771	0.0082	0.0082	0.0083	0.0082	0.0116	0.0081	0.0081	0.0098	0.0095	0.0014	0.0106	0.0011	0	0.0055	0.0116	0.0093	0.0074	0.0034	0.0066	0.0066	0.0063	0.0070	0.0127	0.0063	0.0062	0.0113	0.0107	0.0012	0.0044	0.0127	0.0017	0.0002	0.0039	0.0068	0.0100	0.0085	0.0031	0.002	0.72154	D	0.053	0.47336	T	0.001	0.07471	B	0.001	0.04355	B	0.001280	0.39594	N	0.208089	0.991875	0.23969	N	1.39	0.34934	L	-4.35	0.97292	D	-0.67	0.19297	N	0.132	0.12770	-0.1969	0.77751	T	0.644	0.87567	D	10	0.0044317245	0.00091	T	.	.	.	0.325	0.64725	0.09	0.01023	0.459478837667	0.45574	0.418617840931497	0.41777	0.612297111466	0.55827	0.617522954941	0.55378	T	0.236662	0.60418	T	-0.314767	0.07334	T	-0.211943	0.53509	T	0.00555091533502853	0.00060	T	0.427357	0.11519	T	0.121332094	0.28533	0.15615295	0.36572	0.121332094	0.28533	0.15615295	0.36571	-3.967	0.23308	T	.	.	0.112	0.21950	B	.	.	1.243424	0.16394	12.51	0.97474135352584845	0.34152	0.42687	0.26933	N	AEFBCI	0.094156	0.19042	N	-0.990739029818487	0.08800	0.4140448	-0.926947542374852	0.11459	0.583909	0.991395253971463	0.32474	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.06	1.4	0.21393	-0.611000	0.05718	0.170000	0.15507	-0.263000	0.06870	0.000000	0.06391	0.962000	0.29361	0.770000	0.36519	0.1507:0.5956:0.0:0.2538	4.598	0.11730	886	0.28090	.	BMPR1B-AS1	Brain_Anterior_cingulate_cortex_BA24	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1689.98	41	chr4	93829637	.	C	A	1689.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.73;DP=962;ExcessHet=0.0000;FS=1.421;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.80;ReadPosRankSum=-1.111e+00;SOR=0.537	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1107	20	0	1	0
chr4	94302198	94302198	A	G	exonic	HPGDS	.	nonsynonymous SNV	HPGDS:NM_014485:exon5:c.T383C:p.M128T,	.	.	435	1047	40	0	0	40	0.0187441	.	.	709531	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.1	T	0.013	B	0.07	B	0.022	N	0.768	N	0	N	4.43	T	-0.989	T	0.003	T	0.138	2.197	13.30	5.49	2.084	5.395	14.402	0.137	.	0.0074	0.00658946	0.0047	0.0127	0.0045	0.0001	0.0024	0.0043	0.0132	0.0044	0.0044954	695	154602	rs34124298	0.0032	0.0032	0.0031	0.0033	0.0432	0.0031	0.0031	0.0388	0.0371	0.0143	0.0056	0.0067	2.526e-05	0.0022	0.0432	0.0024	0.0056	0.0047	0.0065	0.0065	0.0062	0.0068	0.0127	0.0062	0.0061	0.0118	0.0114	0.0127	0	0.0087	0.0072	0.0002	0.0017	0.0544	0.0032	0.0156	0.0056	0.008	0.58626	D	0.03	0.54159	D	0.013	0.16609	B	0.07	0.27859	B	0.022287	0.26663	N	0.262459	0.767667	0.29471	N	0.14	0.08730	N	4.43	0.02158	T	-2.16	0.48850	N	0.509	0.54059	-0.9886	0.32953	T	0.003	0.01026	T	10	0.0071651638	0.00163	T	.	.	.	0.137	0.36984	.	.	0.195762928549	0.19159	0.6785771150250166	0.67796	0.0136227670334	0.01305	0.417279392481	0.27462	T	0.072961	0.34582	T	-0.550537	0.00289	T	-0.551908	0.17142	T	0.078524000242963	0.09797	T	0.70423	0.31438	T	0.71224767	0.78731	0.6873759	0.81612	0.71224767	0.78732	0.6873759	0.81613	-6.636	0.51327	T	.	.	0.597	0.68735	P	.	.	3.770089	0.54150	23.5	0.98240332546882192	0.39476	0.95083	0.63375	D	AEFDIJ	0.625085	0.60841	D	-0.152657908466863	0.35122	2.013369	0.061273277222279	0.42620	2.581076	0.999999937179927	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.49	5.49	0.81022	5.755000	0.68406	11.128000	0.86723	0.756000	0.94297	0.997000	0.40164	1.000000	0.68203	0.952000	0.50033	1.0:0.0:0.0:0.0	14.402	0.66626	856	0.34373	Glutathione S-transferase, C-terminal|Glutathione S-transferase, C-terminal-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1252.98	33	chr4	94302198	.	A	G	1252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.820e-01;DP=800;ExcessHet=0.0000;FS=1.484;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.90;ReadPosRankSum=0.255;SOR=0.542	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1138	20	0	1	0
chr4	94308699	94308699	T	C	exonic	HPGDS	.	nonsynonymous SNV	HPGDS:NM_014485:exon4:c.A271G:p.I91V,	.	.	431	1052	38	1	0	40	0.0186567	.	.	709532	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.001	B	0.095	N	1.000	N	0.895	L	4.42	T	-0.899	T	0.001	T	0.057	0.751	7.982	-0.922	-0.145	0.306	5.485	0.065	.	0.0099	0.00898562	0.0053	0.0196	0.0048	0	0.0024	0.0043	0.0121	0.0044	0.0051875	802	154602	rs61752528	0.0034	0.0034	0.0033	0.0034	0.0446	0.0033	0.0033	0.0401	0.0383	0.0223	0.0057	0.0067	2.53e-05	0.0022	0.0446	0.0024	0.0062	0.0047	0.0086	0.0087	0.0084	0.0089	0.0199	0.0082	0.0081	0.0187	0.0183	0.0199	0	0.0095	0.0072	0	0.0017	0.0544	0.0033	0.0170	0.0056	0.301	0.14449	T	0.368	0.16570	T	0.0	0.02946	B	0.001	0.04355	B	0.094540	0.20168	N	0.495251	1	0.08975	N	1.135	0.28956	L	4.42	0.02177	T	-0.35	0.12847	N	0.269	0.30461	-0.8993	0.48064	T	0.001	0.00438	T	10	0.008059353	0.00183	T	.	.	.	0.065	0.18881	.	.	0.0762999501168	0.06990	0.40017604339616514	0.39932	0.00903241899957	0.00816	0.283205896616	0.07943	T	0.045405	0.27111	T	-0.726177	0.00025	T	-0.798959	0.01929	T	0.000171278209201209	0.00001	T	0.685431	0.29402	T	0.08271221	0.19066	0.053289402	0.08947	0.08271221	0.19066	0.053289402	0.08946	-3.971	0.23368	T	.	.	0.077	0.06250	B	.	.	0.760583	0.11303	7.926	0.74893722661542117	0.10867	0.05650	0.11563	N	AEFI	0.063106	0.12172	N	-0.903011566583042	0.10771	0.5163775	-0.869607243925074	0.12817	0.6615129	0.744778617640696	0.23268	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.43	-0.922	0.09936	0.342000	0.19669	-0.548000	0.08544	0.587000	0.30956	0.506000	0.27002	0.000000	0.08366	0.984000	0.60418	0.1575:0.4554:0.0:0.3871	5.485	0.16038	840	0.37365	Glutathione S-transferase, C-terminal-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1020.98	33	chr4	94308699	.	T	C	1020.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=795;ExcessHet=0.0000;FS=1.678;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.86;ReadPosRankSum=-9.570e-01;SOR=0.913	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr4	94662433	94662433	C	G	exonic	PDLIM5	.	nonsynonymous SNV	PDLIM5:NM_001256425:exon11:c.C622G:p.L208V	.	.	424	1090	8	0	0	8	0.00365631	.	.	2679121	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.996	D	0.968	D	0.000	D	1.000	D	2.495	M	-2.39	D	0.650	D	0.785	D	0.653	3.923	19.96	4.96	2.768	1.564	9.230	0.610	0.0943881906345	.	0.000199681	6.593e-05	9.61e-05	0	0	0	5.997e-05	0	0.0002	6.47e-05	10	154602	rs114255444	7.619e-05	7.257e-05	7.499e-05	7.738e-05	0.0032	6.404e-05	5.984e-05	0.0021	0.0017	0.0002	6.726e-05	0	0	0	0.0032	4.493e-05	0.0003	0.0002	4.599e-05	4.594e-05	5.14e-05	4.032e-05	0.0001	2.109e-05	1.527e-05	2.847e-05	1.858e-05	0	0	0.0001	0	0	0	0	7.351e-05	0	0	0.002	0.72154	D	0.037	0.74150	D	0.948	0.67487	P	0.812	0.67560	P	0.000041	0.55875	D	0.077207	1	0.81001	D	2.765	0.80766	M	-2.39	0.88377	D	-2.07	0.50012	N	0.654	0.67564	0.650	0.92549	D	0.785	0.92708	D	10	0.5017696	0.61590	D	0.094388	0.76243	D	0.610	0.84719	.	.	0.928294165333	0.92756	0.5240608340404989	0.52330	0.530212423702	0.50563	0.565879702568	0.48096	T	0.083596	0.86098	T	0.0178459	0.54090	T	0.047537	0.73421	D	0.499638348817825	0.32616	T	0.970103	0.90356	D	0.4697714	0.65276	0.42369685	0.66232	0.4697714	0.65276	0.42369685	0.66232	-11.3	0.81278	D	.	.	0.313	0.58611	B	.;.;.;.;.;.	.;.;.;.;.;.	4.670575	0.74647	26.2	0.99812836718519138	0.89620	0.96118	0.67615	D	AEFGBI	0.632619	0.61316	D	0.692393778031861	0.79133	7.01398	0.663576961320819	0.79625	7.122133	0.999999948087747	0.74766	0.706298	0.61202	0	0.53679	0.11191	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.85	4.96	0.65153	2.034000	0.40767	5.839000	0.50231	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.971000	0.54645	0.1463:0.7817:0.0:0.072	9.230	0.36596	872	0.31118	Zinc finger, LIM-type|Zinc finger, LIM-type;.;Zinc finger, LIM-type|Zinc finger, LIM-type;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1261.98	33	chr4	94662433	.	C	G	1261.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.395;DP=806;ExcessHet=0.0000;FS=0.678;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.52;ReadPosRankSum=-1.937e+00;SOR=0.781	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	20	0	1	0
chr4	94664051	94664051	A	G	exonic	PDLIM5	.	nonsynonymous SNV	PDLIM5:NM_001256425:exon12:c.A800G:p.H267R	.	.	427	1084	11	0	0	11	0.00504819	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	1.0	D	1.0	D	0.000	D	1.000	D	1.925	M	0.65	T	-0.631	T	0.213	T	0.424	4.495	24.1	5.78	2.198	9.339	16.103	0.446	.	0.0074	0.00399361	0.0079	0.0018	0.0026	0.0001	0.0230	0.0099	0.0077	0.0052	0.0077295	1195	154602	rs76352571	0.0098	0.0098	0.0097	0.0099	0.0107	0.0097	0.0096	0.0106	0.0105	0.0011	0.0022	0.0008	0	0.0230	0.0012	0.0107	0.0086	0.0054	0.0076	0.0076	0.0073	0.0079	0.0114	0.0072	0.0071	0.0107	0.0105	0.0016	0	0.0020	0.0006	0.0006	0.0230	0.0034	0.0114	0.0061	0.0039	0.007	0.59928	D	0.014	0.92824	D	0.992	0.90584	D	0.989	0.97372	D	0.000005	0.62929	D	0.105778	1	0.81001	D	0.1	0.08449	N	0.65	0.58029	T	-5.47	0.89152	D	0.608	0.69037	-0.6314	0.63511	T	0.213	0.57388	T	10	0.00881511	0.00200	T	.	.	.	0.446	0.74797	.	.	0.836370529571	0.83480	0.6732097579457009	0.67258	0.5818623181	0.53964	0.7609770298	0.76073	T	0.083552	0.87510	T	-0.339443	0.05426	T	-0.249332	0.49882	T	0.0225501479514637	0.00971	T	0.940606	0.77652	D	0.6682194	0.76337	0.6900932	0.81766	0.6682194	0.76339	0.6900932	0.81767	-10.267	0.75957	D	.	.	0.351	0.79163	A	.;.;.;.;.	.;.;.;.;.	4.724063	0.76021	26.4	0.9981425809924922	0.89797	0.99372	0.95168	D	AEFBI	.	.	.	0.744661387980843	0.82558	7.792073	0.752460654985872	0.86340	8.857948	0.999999999999896	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.78	5.78	0.91418	7.342000	0.78550	11.221000	0.89777	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.103	0.81002	872	0.31118	Zinc finger, LIM-type;.;Zinc finger, LIM-type;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1273.98	36	chr4	94664051	.	A	G	1273.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.26;DP=850;ExcessHet=0.0000;FS=0.751;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=0.954;SOR=0.790	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1153	20	0	1	0
chr4	95123905	95123905	C	T	exonic	BMPR1B	.	nonsynonymous SNV	BMPR1B:NM_001256792:exon5:c.C445T:p.R149W	Acromesomelic dysplasia, Demirhan type, Autosomal recessive;Brachydactyly, type A1, D, Autosomal dominant;Brachydactyly, type A2, Autosomal dominant	.	16	1486	19	1	0	21	0.00701637	0.0066	0.07	299981	BMPR1B-related_disorder|Type_A2_brachydactyly|Acromesomelic_dysplasia_3|Brachydactyly|not_provided	.|Human_Phenotype_Ontology:HP:0009372,MONDO:MONDO:0007216,MedGen:C1832702,OMIM:112600,Orphanet:93396|MONDO:MONDO:0012274,MedGen:C4225404,OMIM:609441|Human_Phenotype_Ontology:HP:0001156,Human_Phenotype_Ontology:HP:0001189,Human_Phenotype_Ontology:HP:0001201,Human_Phenotype_Ontology:HP:0005630,Human_Phenotype_Ontology:HP:0005657,Human_Phenotype_Ontology:HP:0005727,Human_Phenotype_Ontology:HP:0006017,Human_Phenotype_Ontology:HP:0006128,Human_Phenotype_Ontology:HP:0100667,MONDO:MONDO:0021004,MedGen:C0221357|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.09	T	0.996	D	0.84	P	0.000	D	1.000	D	2.425	M	-1.78	D	0.298	D	0.648	D	0.979	3.087	16.31	4.51	0.995	6.608	12.858	0.627	.	0.0006	0.00259585	0.0020	0.0002	0.0003	0.0003	0	0.0004	0.0011	0.0126	0.0017788	275	154602	rs34231464	0.0011	0.0011	0.0007	0.0015	0.0136	0.0011	0.0010	0.0130	0.0127	0.0001	8.955e-05	0	0.0001	0	0.0044	0.0003	0.0014	0.0136	0.0006	0.0006	0.0005	0.0008	0.0131	0.0005	0.0005	0.0105	0.0096	0.0001	0	6.557e-05	0	0	0	0	0.0004	0.0009	0.0131	0.029	0.46129	D	0.112	0.37037	T	0.996	0.68779	D	0.84	0.60170	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.945	0.84822	M	-1.79	0.83815	D	-1.56	0.46673	N	0.947	0.95491	0.298	0.87526	D	0.648	0.87727	D	10	0.012114406	0.00262	T	.	.	.	0.627	0.85615	.	.	0.9414837919	0.94087	0.6406858933626726	0.64003	0.252841091345	0.27850	0.784736335278	0.79644	T	0.453342	0.79332	T	0.0536441	0.58811	T	0.315956	0.88921	D	0.0508546990591108	0.05649	T	0.973003	0.90263	D	0.21071686	0.43376	0.12677509	0.30527	0.2615601	0.49215	0.13505195	0.32345	-5.663	0.43363	T	.	.	0.212	0.45507	B	.;.;.;.;.	.;.;.;.;.	4.789539	0.77707	26.8	0.98830489648652331	0.46952	0.93889	0.59485	D	AEFI	0.713869	0.66653	D	0.456309832186313	0.64563	4.713541	0.433110006652386	0.63640	4.601784	0.999999120202935	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.68	4.51	0.54589	6.600000	0.74011	9.268000	0.79613	-0.136000	0.12710	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.8579:0.1421:0.0:0.0	12.858	0.57287	573	0.70213	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	589.98	34	chr4	95123905	.	C	T	589.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=753;ExcessHet=0.0000;FS=1.034;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.35;ReadPosRankSum=1.03;SOR=0.978	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1068	20	0	1	0
chr4	95185093	95185093	T	C	exonic	UNC5C	.	nonsynonymous SNV	UNC5C:NM_003728:exon13:c.A2240G:p.D747G,	.	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.983	D	0.982	D	0.000	D	1.000	D	2.78	M	0.57	T	-0.153	T	0.391	T	0.802	4.289	22.4	5.87	2.251	6.114	16.332	0.383	0.067400837264	7.7e-05	0.000399361	0.0002	0.0002	0.0003	0	0	0.0002	0	6.063e-05	0.0001811	28	154602	rs146792764	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	0.0001	0.0006	0	0	0	0.0014	0.0002	0.0006	4.639e-05	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0003	0.0003	4.813e-05	0	0.0005	0	0	0	0.0034	0.0004	0.0009	0	0.001	0.78490	D	0.007	0.70582	D	0.983	0.60381	D	0.982	0.75477	D	0.000000	0.84330	D	0.048289	0.999996	0.58761	D	2.845	0.82663	M	0.57	0.54347	T	-5.65	0.86988	D	0.889	0.88798	-0.1526	0.78852	T	0.391	0.74517	T	10	0.27719885	0.45286	T	0.067401	0.70155	D	0.383	0.70029	.	.	0.891278910096	0.89020	0.7245738436331536	0.72401	0.57921107327	0.53804	0.736917853355	0.72519	T	0.21512	0.85897	T	-0.0997327	0.36469	T	-0.0157363	0.69309	D	0.760437190532684	0.43876	D	0.993401	0.97840	D	0.79295325	0.83458	0.75371444	0.85443	0.79295325	0.83460	0.75371444	0.85444	-11.878	0.84251	D	.	.	0.766	0.75904	P	.;.	.;.	4.349881	0.66808	25.0	0.99819055112437272	0.90238	0.97673	0.76317	D	AEFBI	0.787862	0.71752	D	0.397484161621529	0.61287	4.327566	0.393957635748178	0.61191	4.315884	0.999998490061302	0.74766	0.516011	0.20929	0	0.573888	0.26702	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.87	5.87	0.94266	6.142000	0.71508	7.893000	0.73158	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.889000	0.42754	0.0:0.0:0.0:1.0	16.332	0.82871	477	0.77662	UPA domain;UPA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2174.98	33	chr4	95185093	.	T	C	2174.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.190e-01;DP=852;ExcessHet=0.0000;FS=5.853;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.79;ReadPosRankSum=0.511;SOR=0.377	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1298	20	0	1	0
chr4	95841007	95841007	G	C	exonic	PDHA2	.	nonsynonymous SNV	PDHA2:NM_005390:exon1:c.G857C:p.R286P,	.	.	259	1180	76	7	0	90	0.0367347	.	.	2736164	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.685	H	-6.13	D	0.850	D	0.988	D	0.493	3.384	17.42	3.17	0.785	3.345	8.906	0.837	.	0.0072	0.00479233	0.0091	0.0013	0.0039	0	0.0018	0.0103	0.0122	0.0205	0.0087644	1355	154602	rs147966234	0.0089	0.0089	0.0083	0.0094	0.0291	0.0088	0.0087	0.0255	0.0242	0.0015	0.0043	0.0293	2.519e-05	0.0026	0.0291	0.0083	0.0102	0.0217	0.0065	0.0065	0.0064	0.0066	0.0207	0.0061	0.0060	0.0174	0.0162	0.0013	0.0022	0.0059	0.0254	0.0002	0.0015	0.0272	0.0090	0.0085	0.0207	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	4.415	0.98701	H	-6.13	0.99538	D	-6.77	0.92782	D	0.682	0.68863	0.850	0.95025	D	0.988	0.99644	D	10	0.019148856	0.00424	T	.	.	.	0.837	0.94877	.	.	0.992494906561	0.99240	0.9509457850072159	0.95078	0.758613918606	0.64132	0.350653082132	0.18018	T	0.90863	0.98262	D	-0.0689159	0.41501	T	0.144487	0.79834	D	0.171731782637727	0.18697	T	0.972603	0.90144	D	0.97855526	0.98997	0.94133365	0.97855	0.97077864	0.98332	0.94133365	0.97855	-14.866	0.95531	D	0.8323588741810592	0.90287	0.984	0.91951	P	.	.	4.374370	0.67375	25.1	0.99635093215139092	0.76264	0.91787	0.54262	D	AEFI	0.551425	0.56350	D	0.704312212544012	0.79916	7.179797	0.518303780275318	0.69223	5.329706	0.00490781993713498	0.10757	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	4.91	3.17	0.35510	3.625000	0.53979	7.265000	0.57972	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0835:0.1496:0.7669:0.0	8.906	0.34685	875	0.30485	Dehydrogenase, E1 component	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3913.11	37	chr4	95841007	.	G	C	3913.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.71;DP=973;ExcessHet=0.1072;FS=18.240;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=0.588;SOR=1.439	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1295	19	0	2	0
chr4	97981252	97981252	T	C	exonic	STPG2	.	nonsynonymous SNV	STPG2:NM_174952:exon6:c.A679G:p.K227E,	.	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.015	B	0.010	N	1.000	N	-0.405	N	2.8	T	-0.950	T	0.003	T	0.044	-1.280	0.042	1.6	0.332	0.483	2.427	0.017	.	0.0055	0.00678914	0.0018	0.0180	0.0015	0	0	0.0002	0.0011	0.0002	0.0018111	280	154602	rs76740552	0.0007	0.0007	0.0008	0.0007	0.0219	0.0007	0.0007	0.0206	0.0201	0.0219	0.0013	0.0007	0	0	0.0057	0.0001	0.0017	0.0002	0.0059	0.0059	0.0062	0.0056	0.0200	0.0056	0.0054	0.0189	0.0184	0.0200	0	0.0023	0	0	0	0.0068	0.0002	0.0057	0	1.0	0.00964	T	1.0	0.01155	T	0.004	0.12183	B	0.015	0.17295	B	0.009707	0.30236	N	0.284305	0.999964	0.18878	N	0	0.06538	N	2.8	0.11082	T	0.58	0.02598	N	0.098	0.07949	-0.9500	0.40972	T	0.003	0.00961	T	10	0.0029162765	0.00047	T	.	.	.	0.017	0.02790	.	.	0.0401082797425	0.02173	0.21351012569015948	0.21267	0.0153228273901	0.01459	0.286774337292	0.08454	T	0.001139	0.00643	T	-0.724735	0.00026	T	-0.798871	0.01931	T	0.00186094577679754	0.00019	T	0.454655	0.12977	T	0.08253378	0.19017	0.05749236	0.10462	0.08253378	0.19017	0.05749236	0.10462	3.716	0.00011	T	.	.	0.099	0.16670	B	.	.	1.348434	0.17559	13.23	0.25910763634928974	0.01217	0.20121	0.20923	N	AEFHCI	0.053152	0.09551	N	-1.09393135313587	0.06754	0.3118344	-0.988994963681917	0.10032	0.5027321	2.19626724844983E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.41	1.6	0.22686	0.507000	0.22383	1.667000	0.27933	0.665000	0.62972	0.530000	0.27189	0.983000	0.30585	0.858000	0.40661	0.2322:0.378:0.0:0.3898	2.427	0.04189	913	0.21160	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	547.98	47	chr4	97981252	.	T	C	547.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.462;DP=816;ExcessHet=0.0000;FS=0.990;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.98;ReadPosRankSum=-9.560e-01;SOR=0.870	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr4	97981290	97981290	G	A	exonic	STPG2	.	nonsynonymous SNV	STPG2:NM_174952:exon6:c.C641T:p.P214L,	.	.	435	1085	2	0	0	2	0.00092081	.	.	2361222	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.425	M	1.63	T	-0.667	T	0.218	T	0.837	3.526	18.00	5.47	2.549	6.140	18.098	0.551	0.0226797584763	0.0002	0.000199681	0.0002	9.741e-05	8.642e-05	0	0	0.0001	0	0.0006	0.0001617	25	154602	rs139988382	7.799e-05	7.798e-05	4.901e-05	0.0001	0.0012	6.6e-05	6.143e-05	0.0006	0.0004	0	0.0001	0	0	0	0.0012	6.116e-05	0.0002	0.0002	7.226e-05	7.219e-05	7.712e-05	6.718e-05	0.0002	3.97e-05	3.127e-05	4.766e-05	3.339e-05	2.408e-05	0	0.0001	0	0	0	0	0.0001	0	0.0002	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	2.955	0.85029	M	1.63	0.28002	T	-7.64	0.95455	D	0.871	0.86833	-0.6672	0.61955	T	0.218	0.58033	T	10	0.7336893	0.74473	D	0.02268	0.45590	T	0.551	0.81427	.	.	0.337621943819	0.33374	0.7691421166074461	0.76863	0.111911538942	0.12625	0.533803462982	0.43571	T	0.037316	0.24431	T	-0.0554803	0.43611	T	-0.0069515	0.69883	D	0.906542122364044	0.56059	D	0.737326	0.35372	T	0.826549	0.85664	0.7274938	0.83900	0.826549	0.85665	0.7274938	0.83901	-7.954	0.60755	D	.	.	0.377	0.58263	A	.	.	4.667903	0.74577	26.2	0.99855695841666758	0.93458	0.92875	0.56761	D	AEFCI	0.629835	0.61140	D	0.740008859865463	0.82254	7.717219	0.683417812207133	0.81121	7.453048	0.602475548478395	0.21737	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.47	5.47	0.80345	6.268000	0.72526	9.584000	0.81034	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	18.098	0.89426	912	0.21483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	325.98	47	chr4	97981290	.	G	A	325.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=743;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.19;ReadPosRankSum=0.461;SOR=0.793	GT:AD:DP:GQ:PL	0/1:19,13:32:99:340,0,510	20	0	1	0
chr4	98421272	98421272	T	G	exonic	RAP1GDS1	.	nonsynonymous SNV	RAP1GDS1:NM_001100430:exon10:c.T1045G:p.L349V	Lymphocytic leukemia, acute T-cell (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.932	P	0.671	P	0.000	D	1.000	D	2.125	M	2.53	T	-0.806	T	0.203	T	0.693	3.680	18.70	3.77	1.440	2.292	11.242	0.245	0.0308383279193	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200577608	1.098e-05	1.094e-05	8.196e-06	1.38e-05	1.352e-05	6.5e-06	5.26e-06	8.12e-06	6.44e-06	0	0	0	0	0	0	1.352e-05	1.664e-05	0	6.566e-06	6.562e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.65419	D	0.009	0.67890	D	0.787	0.44504	P	0.322	0.41795	B	0.000002	0.62929	D	0.000000	0.999965	0.52935	D	2.275	0.64647	M	0.51	0.55439	T	-2.09	0.49352	N	0.588	0.61680	-0.8056	0.54813	T	0.203	0.56003	T	10	0.403409	0.55726	T	0.030838	0.53060	D	0.245	0.55201	.	.	0.543415583544	0.53994	0.33578268624573593	0.33491	0.347118109405	0.36606	0.779404878616	0.78838	T	0.12738	0.45437	T	0.0674056	0.60531	T	-0.140953	0.60036	T	0.782395601272583	0.45200	D	0.971903	0.89805	D	0.5341842	0.69069	0.32115975	0.58066	0.5341842	0.69070	0.32115975	0.58065	-5.01	0.36948	T	.	.	0.214	0.46949	B	.;.;.;.;.;.	.;.;.;.;.;.	3.470223	0.48408	22.6	0.99694287388600411	0.80180	0.94850	0.62546	D	AEFDGBIJ	0.562419	0.57002	D	-0.103322887100947	0.37247	2.164339	-0.00209985163061462	0.39621	2.351988	0.99994972624286	0.47345	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.79	3.77	0.42499	2.336000	0.43597	2.696000	0.34125	-0.173000	0.11020	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.7837:0.0:0.2163	11.242	0.48205	895	0.25842	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	948.98	35	chr4	98421272	.	T	G	948.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=764;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=0.138;SOR=0.737	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1326	20	0	1	0
chr4	99034284	99034284	A	G	exonic	METAP1	.	nonsynonymous SNV	METAP1:NM_015143:exon3:c.A221G:p.N74S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.003	B	0.000	D	1.000	D	0.625	N	.	.	-1.005	T	0.120	T	0.207	1.879	12.24	5.24	1.990	7.471	13.749	0.053	0.00545622157831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.721e-06	5.472e-06	5.645e-06	5.799e-06	6.493e-06	2.46e-06	1.78e-06	2.7e-06	1.74e-06	0	0	0	0	0	0	6.493e-06	1.724e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.10412	T	0.642	0.06925	T	0.0	0.02946	B	0.003	0.08700	B	0.000000	0.84330	D	0.046048	0.999997	0.58761	D	0.6	0.15550	N	.	.	.	-0.69	0.19720	N	0.387	0.42834	-1.0052	0.28397	T	0.120	0.41950	T	8	0.18173268	0.33419	T	0.005456	0.14015	T	0.053	0.14996	0.243	0.17677	0.433491693731	0.42969	0.43917266599487886	0.43834	0.310035681446	0.33317	0.671293318272	0.63022	T	0.067812	0.33298	T	-0.0937612	0.37456	T	-0.372458	0.36601	T	0.672861874103546	0.39465	D	0.909509	0.67973	D	0.15240751	0.34598	0.08225409	0.18758	0.15240751	0.34597	0.08225409	0.18758	-3.426	0.15408	T	.	.	0.072	0.04080	B	.	.	2.930466	0.38935	20.8	0.96302867075564658	0.29354	0.98028	0.78995	D	AEBI	0.898575	0.84201	D	-0.0392189079115047	0.40086	2.37461	0.170022735223955	0.48213	3.04027	0.999999998139214	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.500000	0.80424	9.085000	0.78728	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	13.749	0.62381	796	0.45353	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1216.98	40	chr4	99034284	.	A	G	1216.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.38;DP=853;ExcessHet=0.0000;FS=3.229;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.36;ReadPosRankSum=-8.500e-02;SOR=0.796	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1416	20	0	1	0
chr4	99139071	99139071	C	T	exonic	ADH4	.	nonsynonymous SNV	ADH4:NM_000670:exon4:c.G340A:p.G114R	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.594	P	0.136	B	0.592	N	1.000	N	1.15	L	3.99	T	-0.941	T	0.010	T	0.405	1.202	9.882	-0.112	-0.168	-0.766	5.981	0.062	0.00511261266127	.	.	2.576e-05	9.895e-05	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs763541504	1.233e-05	1.231e-05	5.452e-06	1.927e-05	0.0002	7.71e-06	6.36e-06	0.0001	9.473e-05	0	0	0	0	0	0	1.801e-06	0	0.0002	4.598e-05	4.593e-05	2.571e-05	6.717e-05	0.0015	2.109e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.596	0.36912	T	0.484	0.12176	T	0.594	0.39171	P	0.136	0.33270	B	0.591945	0.05597	N	1.376800	0.999998	0.08975	N	0.27	0.09956	N	3.99	0.03268	T	0.53	0.19720	N	0.33	0.37820	-0.9411	0.42442	T	0.010	0.03765	T	10	0.055310756	0.06026	T	0.005113	0.12970	T	0.062	0.17934	0.256	0.19689	0.295974979623	0.29207	0.49021192052141105	0.48941	0.0888396925731	0.10049	0.307934731245	0.11595	T	0.006828	0.15712	T	-0.418552	0.01747	T	-0.579318	0.14605	T	0.0415604308308766	0.03974	T	0.733627	0.85835	T	0.095760666	0.22543	0.0740422	0.16156	0.095760666	0.22543	0.0740422	0.16156	-2.906	0.09203	T	.	.	0.18	0.50618	B	.;.;.;.;.;.	.;.;.;.;.;.	0.672547	0.10411	7.133	0.82176856960057754	0.14057	0.09077	0.14904	N	AEFCI	0.405713	0.47849	N	-0.773518718982259	0.14002	0.6940676	-0.844497403718412	0.13420	0.696055	0.103589725518257	0.16451	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.0	-0.112	0.12910	-0.972000	0.03912	-1.915000	0.04503	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.963000	0.52385	0.0:0.4246:0.3087:0.2667	5.981	0.18641	762	0.50290	.;Alcohol dehydrogenase, N-terminal|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Polyketide synthase, enoylreductase domain;.;Alcohol dehydrogenase, N-terminal;Alcohol dehydrogenase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	893.98	34	chr4	99139071	.	C	T	893.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.451e+00;DP=767;ExcessHet=0.0000;FS=0.908;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=0.264;SOR=0.571	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr4	99141663	99141663	C	T	exonic	ADH4	.	nonsynonymous SNV	ADH4:NM_000670:exon3:c.G140A:p.C47Y	.	.	425	1092	5	0	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	5.125	H	0.78	T	0.639	D	0.555	D	0.979	4.128	21.3	4.01	2.228	4.605	16.713	0.595	0.0420887837377	0.0002	0.000399361	0.0003	0	0	0	0	0.0005	0.0011	0.0001	0.0003558	55	154602	rs61734620	0.0004	0.0004	0.0004	0.0004	0.0009	0.0004	0.0004	0.0004	0.0004	0.0001	0.0002	7.659e-05	0	0	0.0009	0.0005	0.0004	0.0003	0.0004	0.0004	0.0004	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	0.0001	0	0.0001	0	0	0	0	0.0007	0.0009	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.225	0.97935	H	0.78	0.49358	T	-10.2	0.99005	D	0.81	0.85554	0.639	0.92407	D	0.555	0.83729	D	10	0.8964087	0.88995	D	0.042089	0.60276	D	0.595	0.83911	.	.	0.893372886602	0.89232	0.8615769767913727	0.86121	0.338207714323	0.35799	0.710891723633	0.68722	T	0.338332	0.70761	T	0.0217789	0.54622	T	0.164593	0.81085	D	0.967545092105865	0.67944	D	0.993421	0.98113	D	0.9687103	0.98139	0.9139523	0.95970	0.9687103	0.98139	0.9139523	0.95970	-8.52	0.65504	D	.	.	0.983	0.91683	P	.;.;.;.;.;.	.;.;.;.;.;.	3.967556	0.58234	24.0	0.99116997418320396	0.52880	0.91156	0.52970	D	AEFBCI	0.887588	0.81996	D	0.842981407116138	0.88705	9.679801	0.620033471494984	0.76397	6.483289	0.999999997280766	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.01	4.01	0.45821	4.822000	0.62377	4.802000	0.44976	0.525000	0.24333	1.000000	0.71638	1.000000	0.68203	0.507000	0.29175	0.0:1.0:0.0:0.0	16.713	0.85248	762	0.50290	.;Alcohol dehydrogenase, N-terminal|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Polyketide synthase, enoylreductase domain;.;Alcohol dehydrogenase, N-terminal;Alcohol dehydrogenase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	665.98	34	chr4	99141663	.	C	T	665.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.402e+00;DP=889;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.57;ReadPosRankSum=-7.400e-01;SOR=0.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485	20	0	1	0
chr4	99307859	99307859	C	T	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon9:c.G1109A:p.R370H	.	.	418	1078	25	1	0	27	0.0123683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.944	D	0.000	D	1.000	D	3.99	H	3.38	T	-0.920	T	0.063	T	0.414	3.939	20.1	3.08	1.641	4.361	10.315	0.218	0.0231445045486	0.0041	0.00259585	0.0032	0.0037	0.0015	0.0007	0.0002	0.0037	0.0077	0.0042	0.0029624	458	154602	rs75967634	0.0031	0.0031	0.0029	0.0033	0.0049	0.0030	0.0030	0.0045	0.0043	0.0032	0.0011	0.0011	0.0006	0.0006	0.0049	0.0033	0.0026	0.0048	0.0032	0.0032	0.0033	0.0032	0.0044	0.0030	0.0029	0.0038	0.0036	0.0034	0.0033	0.0012	0.0006	0.0008	0.0010	0	0.0042	0.0024	0.0044	0.0	0.91255	D	0.006	0.70582	D	.	.	.	.	.	.	0.000034	0.55875	D	0.068332	1	0.81001	D	.	.	.	3.38	0.05778	T	-4.29	0.76414	D	0.362	0.69825	-0.9198	0.45581	T	0.063	0.26314	T	10	0.014936537	0.00314	T	0.023145	0.46094	T	0.218	0.51265	.	.	0.491248951702	0.48758	0.7890051812966327	0.78852	0.783653125193	0.65405	0.413478672504	0.26938	T	0.09467	0.39463	T	-0.408097	0.02047	T	-0.358987	0.38171	T	0.102206649897578	0.12598	T	0.89971	0.64861	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.75992	P	.;.;.;.	.;.;.;.	4.038986	0.59786	24.1	0.99854316575898061	0.93368	0.95068	0.63321	D	AEFI	0.877816	0.80268	D	0.423228588699053	0.62703	4.490509	0.189106407762688	0.49249	3.130397	0.00271159252284801	0.09654	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.08	3.08	0.34576	4.824000	0.62391	2.694000	0.34110	0.520000	0.23804	1.000000	0.71638	0.993000	0.31925	0.045000	0.14751	0.0:1.0:0.0:0.0	10.315	0.42911	622	0.65860	Polyketide synthase, enoylreductase domain;.;.;Polyketide synthase, enoylreductase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3045.98	40	chr4	99307859	.	C	T	3045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.267;DP=976;ExcessHet=0.0000;FS=0.935;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=0.976;SOR=0.611	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1328	20	0	1	0
chr4	99318097	99318097	C	G	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.G208C:p.A70P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.973	D	0.964	D	0.274	N	0.986	N	1.745	L	3.67	T	-1.090	T	0.040	T	0.61	3.658	18.60	2.36	0.190	4.136	8.164	0.203	0.00535122917252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	.	.	.	.	.	.	0.274284	0.15067	N	0.646799	0.986388	0.24621	N	.	.	.	3.67	0.04188	T	-2.9	0.60827	D	0.403	0.44379	-1.0901	0.05515	T	0.040	0.17404	T	10	0.78878886	0.78477	D	0.005351	0.13710	T	0.203	0.48915	0.793	0.91438	0.298403945805	0.29456	0.868512317625715	0.86816	0.674296566844	0.59635	0.391434371471	0.23871	T	0.010873	0.09774	T	-0.116403	0.33711	T	-0.404982	0.32804	T	0.962773263454437	0.66465	D	0.949205	0.80472	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.85099	P	.;.;.;.	.;.;.;.	3.508601	0.49119	22.7	0.99207734913482859	0.55472	0.90290	0.51349	D	AEFDGBI	0.896173	0.83696	D	-0.172128327332495	0.34298	1.956007	-0.333588702841019	0.27021	1.496536	0.828569575732975	0.24652	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.17	2.36	0.28258	3.367000	0.52075	3.858000	0.40123	-0.233000	0.07663	0.778000	0.29449	0.208000	0.23622	0.125000	0.19370	0.168:0.7474:0.0:0.0847	8.164	0.30373	624	0.65661	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.45	6049.22	166	chr4	99318097	.	C	G	6049.22	.	AC=18;AF=0.450;AN=40;BaseQRankSum=-2.037e+00;DP=3479;ExcessHet=30.0624;FS=302.606;InbreedingCoeff=-0.7873;MLEAC=19;MLEAF=0.475;MQ=59.97;MQRankSum=0.00;QD=2.22;ReadPosRankSum=-1.750e-01;SOR=13.960	GT:AD:DP:GQ:PL	0/1:95,74:169:99:695,0,1241	2	0	18	1
chr4	99318127	99318127	T	A	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.A178T:p.T60S	.	.	419	1084	19	0	0	19	0.0086877	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.0	B	0.011	B	0.264	N	1.000	N	-0.265	N	3.57	T	-0.941	T	0.003	T	0.076	-0.618	1.251	-8.83	-2.727	-3.247	2.290	0.017	.	0.0038	0.00419329	0.0066	0.0010	0.0033	0	0.0426	0.0067	0.0110	0.0008	0.0063195	977	154602	rs6413413	0.0074	0.0074	0.0076	0.0072	0.0125	0.0073	0.0073	0.0102	0.0093	0.0015	0.0031	0.0029	0	0.0357	0.0125	0.0072	0.0068	0.0019	0.0071	0.0071	0.0055	0.0088	0.0071	0.0068	0.0066	0.0066	0.0063	0.0009	0	0.0046	0.0014	0	0.0437	0	0.0071	0.0066	0.0023	0.741	0.03685	T	0.327	0.18732	T	.	.	.	.	.	.	0.264414	0.03730	N	1.685470	1	0.08975	N	.	.	.	3.57	0.04645	T	0.01	0.06868	N	0.06	0.03841	-0.9406	0.42521	T	0.003	0.01026	T	10	0.0034271777	0.00060	T	.	.	.	0.017	0.02790	0.233	0.16155	0.130388298395	0.12655	0.25660200605964073	0.25574	0.151826184999	0.17133	0.269030928612	0.06014	T	0.007529	0.06930	T	-0.74619	0.00019	T	-0.83978	0.01102	T	0.00319479584988876	0.00034	T	0.232977	0.03169	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.28976	B	.;.;.;.	.;.;.;.	-1.877619	0.00133	0.002	0.22109662835778326	0.00874	0.03795	0.09121	N	AEFDBI	0.593127	0.58857	D	-1.94434961552967	0.00278	0.01191705	-2.04151613840292	0.00250	0.01101121	0.99961030143705	0.40981	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.41	-8.83	0.00696	-4.830000	0.00210	-20.000000	0.00162	-0.779000	0.03363	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1555:0.3814:0.2252:0.2379	2.290	0.03883	624	0.65661	Alcohol dehydrogenase, N-terminal|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal;Alcohol dehydrogenase, N-terminal;Alcohol dehydrogenase, N-terminal|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2453.98	131	chr4	99318127	.	T	A	2453.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.31;DP=2970;ExcessHet=0.0000;FS=4.131;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.85;ReadPosRankSum=0.651;SOR=0.833	GT:AD:DP:GQ:PL	0/0:190,0:190:99:0,120,1800	20	0	1	0
chr4	99345014	99345014	G	A	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon5:c.C415T:p.H139Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.000798722	0.0001	0.0012	0.0002	0	0	0	0	0	0.0001229	19	154602	rs371660994	5.951e-05	5.951e-05	6.67e-05	5.225e-05	0.0019	4.882e-05	4.561e-05	0.0016	0.0014	0.0019	0.0002	0	0	0	0.0003	0	0.0002	0	0.0005	0.0005	0.0005	0.0006	0.0018	0.0004	0.0004	0.0015	0.0014	0.0018	0	0.0004	0	0	0	0	0	0	0	.	.	.	1.0	0.01155	T	0.001	0.07471	B	0.005	0.11217	B	.	.	.	.	.	.	.	-1.365	0.00641	N	.	.	.	.	.	.	0.07	0.04307	.	.	.	.	.	.	.	0.012416273	0.00267	T	.	.	.	.	.	.	.	0.284539287134	0.28064	0.4128988542581953	0.41205	.	.	0.290951907635	0.09061	T	0.021915	0.16988	T	-0.392664	0.02585	T	-0.350041	0.39201	T	.	.	.	0.864713	0.87759	D	0.21729632	0.44210	0.20465514	0.44598	0.21729632	0.44210	0.20465514	0.44597	-1.507	0.01778	T	.	.	0.076	0.13737	B	.;.;.	.;.;.	-1.298892	0.00439	0.009	0.26994769242927336	0.01319	0.01801	0.05620	N	AEFI	0.449060	0.50403	N	.	.	.	.	.	.	1.2549270797779E-5	0.02871	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	4.14	-4.08	0.03696	-1.915000	0.01669	-8.586000	0.00945	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.501:0.0:0.2795:0.2196	5.494	0.16085	624	0.65661	Alcohol dehydrogenase, N-terminal|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal;Alcohol dehydrogenase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4037.98	34	chr4	99345014	.	G	A	4037.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.284e+00;DP=1930;ExcessHet=0.0000;FS=1.974;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.99;MQRankSum=0.00;QD=14.22;ReadPosRankSum=1.34;SOR=0.579	GT:AD:DP:GQ:PL	0/0:167,0:167:99:0,120,1800	20	0	1	0
chr4	99347057	99347057	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G208C:p.A70P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	0.987	0.61912	D	0.964	0.71005	D	.	.	.	.	.	.	.	1.585	0.39878	L	.	.	.	.	.	.	0.553	0.57860	.	.	.	.	.	.	.	0.45086047	0.58689	T	.	.	.	.	.	.	.	0.456647468687	0.45291	0.8867280223172282	0.88641	.	.	0.398606598377	0.24874	T	0.025436	0.35537	T	0.163225	0.70500	D	-0.00331565	0.70121	D	.	.	.	0.937806	0.78939	D	0.76270866	0.81614	0.69800264	0.82213	0.76270866	0.81615	0.69800264	0.82214	-9.592	0.71430	D	.	.	0.950	0.86857	P	.;.;.	.;.;.	3.454651	0.48119	22.6	0.99707451619795451	0.81074	0.77981	0.38408	D	AEFI	0.799589	0.72581	D	.	.	.	.	.	.	2.3174768173114E-5	0.03498	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	2.86	0.32427	2.765000	0.47304	4.616000	0.44056	0.549000	0.26987	0.378000	0.25989	0.437000	0.24884	0.144000	0.20092	0.0:0.9091:0.0:0.0909	11.418	0.49207	625	0.65529	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4	6153.33	123	chr4	99347057	.	C	G	6153.33	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-8.170e-01;DP=2885;ExcessHet=20.9642;FS=293.864;InbreedingCoeff=-0.6783;MLEAC=17;MLEAF=0.425;MQ=59.97;MQRankSum=0.00;QD=3.24;ReadPosRankSum=-6.350e-01;SOR=13.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,65:126:99:.:.:804,0,654	4	0	16	1
chr4	99347058	99347058	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G207C:p.E69D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.83351	D	0.994	0.66517	D	0.929	0.66367	D	.	.	.	.	.	.	.	1.565	0.39561	L	.	.	.	.	.	.	0.851	0.84713	.	.	.	.	.	.	.	0.5626589	0.64875	D	.	.	.	.	.	.	.	0.427139414373	0.42328	0.8914061528926898	0.89110	.	.	0.513031244278	0.40645	T	0.026211	0.58974	T	0.22255	0.76017	D	0.0819005	0.75705	D	.	.	.	0.975102	0.94195	D	0.6913734	0.77585	0.5877092	0.76085	0.6913734	0.77587	0.5877092	0.76086	-12.015	0.84925	D	.	.	0.959	0.87947	P	.;.;.	.;.;.	2.789522	0.36664	20.3	0.99424627263076804	0.63935	0.54002	0.29509	D	AEFI	0.672285	0.63874	D	.	.	.	.	.	.	1.82240512729962E-6	0.01202	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	0.955	0.18725	0.069000	0.14419	-0.861000	0.07140	0.549000	0.26987	0.372000	0.25940	0.002000	0.18203	0.136000	0.19798	0.0:0.4777:0.0:0.5223	7.455	0.26434	625	0.65529	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05	529.85	45	chr4	99347058	.	C	G	529.85	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-4.228e+00;DP=1847;ExcessHet=0.1072;FS=137.080;InbreedingCoeff=-0.0651;MLEAC=2;MLEAF=0.050;MQ=59.97;MQRankSum=0.00;QD=2.46;ReadPosRankSum=-7.240e-01;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:104,31:135:25:.:.:0,25,2157	18	0	2	1
chr4	99420769	99420769	C	T	exonic	ADH7	.	nonsynonymous SNV	ADH7:NM_000673:exon6:c.G625A:p.V209I	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.734	P	0.116	B	0.000	D	1.000	D	1.945	M	1.54	T	-1.095	T	0.051	T	0.283	1.859	12.18	2.93	1.935	1.179	8.328	0.117	0.0025705988209	7.7e-05	.	7.466e-05	0.0002	0	0.0001	0	9.047e-05	0	0	8.41e-05	13	154602	rs377699817	0.0001	0.0001	0.0001	9.49e-05	0.0005	9.051e-05	8.534e-05	0.0001	0.0001	8.966e-05	0	0	7.558e-05	0	0.0005	0.0001	6.625e-05	1.159e-05	5.912e-05	5.906e-05	6.426e-05	5.374e-05	9.626e-05	3.076e-05	2.209e-05	3.243e-05	1.911e-05	9.626e-05	0	0	0	0	0	0	7.352e-05	0	0	0.209	0.19710	T	0.408	0.16619	T	0.734	0.42776	P	0.116	0.31939	B	0.000000	0.84330	D	0.000000	0.999647	0.51968	D	1.955	0.52871	M	1.54	0.30133	T	-0.63	0.18459	N	0.222	0.24883	-1.0954	0.04695	T	0.051	0.21611	T	10	0.18441615	0.33814	T	0.002571	0.05178	T	0.117	0.32689	.	.	0.213573922156	0.20996	0.3190842190472521	0.31821	0.143767449936	0.16234	0.313936144114	0.12502	T	0.086749	0.37793	T	-0.40375	0.02188	T	-0.538301	0.18463	T	0.0737037745330752	0.09161	T	0.782222	0.41780	T	0.1143288	0.26992	0.08647369	0.20036	0.1143288	0.26992	0.08647369	0.20036	-5.296	0.40948	T	.	.	0.100	0.18869	B	.;.;.;.	.;.;.;.	2.096652	0.26672	17.20	0.9819945657012904	0.39105	0.70288	0.34529	D	AEFI	0.138623	0.25997	N	-0.26490971178167	0.30513	1.702061	-0.308105768584674	0.27835	1.547466	3.86967251927081E-4	0.06781	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.8	2.93	0.33092	0.945000	0.28654	0.619000	0.20111	-0.171000	0.11205	0.335000	0.25632	0.049000	0.21787	0.786000	0.37147	0.0:0.7419:0.0:0.2581	8.328	0.31330	929	0.16858	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1534.98	40	chr4	99420769	.	C	T	1534.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.22;DP=845;ExcessHet=0.0000;FS=1.796;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.50;ReadPosRankSum=-1.074e+00;SOR=0.931	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr4	99542101	99542101	C	T	exonic	C4orf17	.	nonsynonymous SNV	C4orf17:NM_032149:exon9:c.C1072T:p.R358W,	.	.	435	1083	4	0	0	4	0.00184332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.993	D	0.533	P	0.009	N	1.000	N	0.345	N	2.15	T	-1.075	T	0.037	T	0.204	2.586	14.61	0.095	0.070	0.182	1.857	0.126	.	0.0008	0.00359425	0.0021	0.0003	0.0003	0.0001	0.0008	0.0009	0.0033	0.0111	0.0019857	307	154602	rs149137653	0.0012	0.0012	0.0010	0.0015	0.0105	0.0012	0.0012	0.0099	0.0097	0.0001	8.95e-05	3.828e-05	0	0.0004	0.0005	0.0007	0.0016	0.0105	0.0008	0.0008	0.0008	0.0008	0.0104	0.0007	0.0006	0.0081	0.0073	0.0003	0	6.544e-05	0	0.0002	9.441e-05	0	0.0008	0.0009	0.0104	0.014	0.53172	D	0.046	0.49120	D	0.993	0.65571	D	0.533	0.48638	P	0.008809	0.01219	N	2.760680	1	0.08975	N	0.345	0.11182	N	2.15	0.19311	T	-0.94	0.25118	N	0.159	0.16586	-1.0752	0.08307	T	0.037	0.16029	T	10	0.006217152	0.00140	T	.	.	.	0.126	0.34673	.	.	0.397838977388	0.39401	0.10969800865057826	0.10898	0.370849021101	0.38592	.	.	.	8.84E-4	0.00449	T	-0.607423	0.00131	T	-0.634909	0.10045	T	0.0314695977740869	0.02221	T	0.481652	0.14579	T	0.05403122	0.10310	0.033223383	0.02182	0.05403122	0.10310	0.033223383	0.02182	-4.754	0.34050	T	.	.	0.092	0.13783	B	.	.	2.091905	0.26615	17.18	0.99273845141387262	0.57661	0.02857	0.07619	N	AEFI	0.060991	0.11628	N	-0.691733510031647	0.16256	0.8265938	-0.836452262251772	0.13614	0.7071709	9.30415824701304E-5	0.04910	0.500041	0.20204	0	0.573888	0.26702	0	0.573888	0.23631	0	0.503917	0.08554	0	.	.	4.95	0.095	0.13792	-0.006000	0.12769	0.186000	0.15687	-0.214000	0.08267	0.001000	0.13787	0.003000	0.18671	0.015000	0.10482	0.1535:0.3749:0.2987:0.173	1.857	0.02988	945	0.12563	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	538.98	34	chr4	99542101	.	C	T	538.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.93;DP=729;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.57;ReadPosRankSum=0.919;SOR=0.675	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1037	20	0	1	0
chr4	99574939	99574939	C	G	exonic	MTTP	.	nonsynonymous SNV	MTTP:NM_000253:exon2:c.C30G:p.C10W,	Abetalipoproteinemia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	1.78	L	1.72	T	-0.404	T	0.384	T	0.896	2.841	15.46	2.23	0.102	2.084	9.148	0.482	0.184976027276	.	.	8.238e-06	9.614e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs753522604	6.24e-05	0.0014	7.047e-05	5.427e-05	0.0001	5.163e-05	4.779e-05	5.688e-05	5.193e-05	0.0001	0	0	0	0	0	6.946e-05	6.693e-05	6.985e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000003	0.62929	D	0.142496	0.999977	0.81001	D	2.455	0.71248	M	-0.22	0.66474	T	-3.08	0.91141	D	0.933	0.93841	-0.4035	0.71917	T	0.384	0.74010	T	10	0.8792747	0.87232	D	0.184976	0.85783	D	0.482	0.77206	0.698	0.83499	0.674874776785	0.67211	.	.	0.686564950529	0.60336	0.859764039516	0.91076	D	0.746103	0.93006	D	0.171064	0.71221	D	0.189473	0.82539	D	0.958944082260132	0.65404	D	0.730127	0.34567	T	0.81693834	0.85014	0.6753535	0.80938	0.81693834	0.85016	0.6753535	0.80939	-6.389	0.49424	T	.	.	0.710	0.77883	P	.;.;.	.;.;.	4.020674	0.59386	24.1	0.98889789545306861	0.47984	0.98218	0.80639	D	AEFGBHCI	0.914315	0.87751	D	0.239856040374876	0.53138	3.484213	0.193583207845389	0.49494	3.151944	0.999998888004483	0.74766	0.600919	0.35232	0	0.405561	0.06353	1	0.640751	0.46059	0	0.530356	0.10902	0	.	.	5.85	2.23	0.27189	2.277000	0.43076	1.393000	0.26132	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.6463:0.0:0.3537	9.148	0.36106	924	0.18029	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	49.22	59	chr4	99574939	.	C	G	49.22	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.695e+00;DP=1354;ExcessHet=0.1072;FS=411.604;InbreedingCoeff=-0.0542;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.27;ReadPosRankSum=1.52;SOR=8.862	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1265	19	0	2	0
chr4	99589739	99589739	A	G	exonic	MTTP	.	nonsynonymous SNV	MTTP:NM_001300785:exon4:c.A571G:p.T191A	Abetalipoproteinemia, Autosomal recessive	YES	1	1519	2	0	0	2	0.000657895	.	.	294774	Inborn_genetic_diseases|Abetalipoproteinaemia|not_provided	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0008181,MONDO:MONDO:0008692,MedGen:C0000744,OMIM:200100,Orphanet:14|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.66	T	0.454	P	0.266	B	0.004	N	1.000	N	1.87	L	3.57	T	-1.004	T	0.103	T	0.139	2.091	12.95	5.35	2.034	2.370	9.832	0.116	.	.	0.00219649	0.0012	0	8.658e-05	0.0001	0	0	0.0011	0.0083	0.0010414	161	154602	rs563558722	0.0005	0.0005	0.0003	0.0007	0.0075	0.0005	0.0004	0.0070	0.0068	0	0	0	5.082e-05	0	0.0005	2.783e-06	0.0009	0.0075	0.0002	0.0002	0.0001	0.0003	0.0068	0.0002	0.0001	0.0050	0.0044	0	0	0	0	0	0	0	0	0	0.0068	0.049	0.39820	D	0.026	0.55759	D	0.32	0.36182	B	0.248	0.39732	B	0.003931	0.34318	N	0.350500	1	0.08975	N	2.595	0.75868	M	3.57	0.40218	T	-0.71	0.20145	N	0.066	0.03841	-1.0043	0.28666	T	0.103	0.37994	T	10	0.008355707	0.00189	T	.	.	.	0.116	0.32463	0.74	0.87232	0.729283302134	0.72687	0.25658072981139496	0.25572	0.234622177888	0.26005	0.372658371925	0.21212	T	0.024116	0.48360	T	-0.529612	0.00386	T	-0.527272	0.19561	T	0.0474630555498203	0.05047	T	0.710029	0.32075	T	0.07242822	0.16112	0.10499231	0.25231	0.06801668	0.14780	0.085958354	0.19882	-3.595	0.17785	T	0.1761429023048341	0.22461	0.097	0.15966	B	.;.;.;.	.;.;.;.	2.839999	0.37468	20.5	0.99253279257682203	0.56957	0.38372	0.25973	N	AEFI	0.262441	0.38019	N	-0.083355452921953	0.38122	2.227979	-0.0019902160931826	0.39626	2.35236	0.0085393129545243	0.11694	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.35	5.35	0.76297	1.860000	0.39068	6.938000	0.56982	0.756000	0.94297	0.229000	0.24633	1.000000	0.68203	0.998000	0.85391	0.7341:0.0:0.0:0.2658	9.832	0.40114	925	0.17918	.;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	517.98	34	chr4	99589739	.	A	G	517.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.170e-01;DP=823;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.16;ReadPosRankSum=0.580;SOR=0.746	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	20	0	1	0
chr4	99591235	99591235	G	A	exonic	MTTP	.	nonsynonymous SNV	MTTP:NM_001300785:exon5:c.G583A:p.V195I	Abetalipoproteinemia, Autosomal recessive	YES	0	1475	46	1	0	48	0.0160107	0.7313	0.39	294778	not_specified|not_provided|Abetalipoproteinaemia	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0008181,MONDO:MONDO:0008692,MedGen:C0000744,OMIM:200100,Orphanet:14	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.98	D	0.825	P	0.000	D	1.000	D	2.2	M	1.96	T	-0.785	T	0.114	T	0.074	4.510	24.2	5.07	1.519	4.075	13.015	0.123	.	0.0078	0.00778754	0.0102	0.0020	0.0086	0.0118	0.0045	0.0117	0.0077	0.0118	0.0099093	1532	154602	rs61750974	0.0097	0.0097	0.0095	0.0099	0.0176	0.0096	0.0095	0.0148	0.0138	0.0017	0.0083	0.0304	0.0103	0.0061	0.0176	0.0092	0.0120	0.0133	0.0079	0.0079	0.0080	0.0079	0.0129	0.0075	0.0074	0.0105	0.0095	0.0021	0	0.0084	0.0337	0.0129	0.0035	0.0170	0.0099	0.0123	0.0124	0.0	0.91255	D	0.0	0.92824	D	0.967	0.59353	D	0.761	0.59331	P	0.000254	0.46924	D	0.221763	0.950724	0.37708	D	2.75	0.80375	M	1.96	0.41750	T	-0.44	0.14588	N	0.114	0.11054	-0.7853	0.56002	T	0.114	0.40536	T	9	0.009104729	0.00291	T	.	.	.	0.123	0.34020	.	.	.	.	0.1991287038952996	0.19829	0.239867016436	0.26532	0.383642137051	0.22772	T	0.022931	0.43860	T	-0.542262	0.00325	T	-0.538724	0.18423	T	0.064671118824304	0.07882	T	0.652235	0.30204	T	0.045035552	0.07302	0.063721694	0.12664	0.037605893	0.04852	0.063721694	0.12664	-4.065	0.24772	T	0.2709707601705125	0.36454	0.084	0.09772	B	.;.;.;.	.;.;.;.	3.787366	0.54495	23.5	0.9976857270100743	0.85666	0.80525	0.40140	D	AEFI	0.722971	0.67273	D	0.448519150340318	0.64118	4.659456	0.44791500378416	0.64582	4.716802	0.387949059409406	0.20020	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.9	5.07	0.68106	4.279000	0.58747	3.962000	0.40756	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0749:0.0:0.9251:0.0	13.015	0.58159	918	0.19598	.;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	853.98	36	chr4	99591235	.	G	A	853.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.023;DP=733;ExcessHet=0.0000;FS=1.231;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.79;ReadPosRankSum=-3.130e-01;SOR=0.408	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1151	20	0	1	0
chr4	99650604	99650604	C	T	exonic	C4orf54	.	nonsynonymous SNV	C4orf54:NM_001354435:exon2:c.G4045A:p.A1349T,	.	.	420	1044	54	4	0	62	0.0288372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	.	.	.	.	.	.	.	.	-0.145	N	1.41	T	-1.030	T	0.024	T	0.017	-1.325	0.032	-8.69	-3.019	-3.390	6.006	0.021	.	.	0.00179712	0.0219	0.0018	0.0106	0	0	0.0301	0.0152	0.0205	0.0028784	445	154602	rs578237898	0.0078	0.0074	0.0072	0.0084	0.0200	0.0077	0.0076	0.0191	0.0188	0.0010	0.0018	0.0485	0.0001	0.0099	0.0153	0.0064	0.0100	0.0200	0.0074	0.0074	0.0072	0.0075	0.0149	0.0070	0.0068	0.0121	0.0111	0.0014	0.0592	0.0029	0.0430	0	0.0096	0.0034	0.0092	0.0057	0.0149	0.634	0.05091	T	0.191	0.28391	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.41	0.33412	T	-0.33	0.12472	N	0.003	0.00016	-1.0305	0.20292	T	0.024	0.10284	T	6	0.001952678	0.00027	T	.	.	.	0.021	0.04004	.	.	.	.	0.16156227208077273	0.16077	.	.	.	.	.	0.002784	0.02176	T	-0.757066	0.00016	T	-0.844654	0.01031	T	0.00761506947138638	0.00088	T	0.423058	0.11286	T	0.02955128	0.02469	0.043511447	0.05428	0.02955128	0.02468	0.043511447	0.05428	-3.841	0.21418	T	.	.	0.064	0.01645	B	.	.	-1.237357	0.00495	0.011	0.4261979673845796	0.03154	0.00836	0.03355	N	AEFBI	0.062861	0.12112	N	-1.44376705273793	0.02266	0.09988632	-1.59410947096352	0.01691	0.07681173	0.999992599705002	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	4.34	-8.69	0.00741	-3.446000	0.00521	-6.698000	0.01329	-1.792000	0.00636	0.000000	0.06391	0.000000	0.08366	0.684000	0.33659	0.3552:0.1775:0.0:0.4673	6.006	0.18778	926	0.17793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4666.11	35	chr4	99650604	.	C	T	4666.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.03;DP=1301;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.67;ReadPosRankSum=0.235;SOR=0.706	GT:AD:DP:GQ:PL	0/0:66,0:66:99:0,120,1800	19	0	2	0
chr4	99652058	99652058	C	G	exonic	C4orf54	.	nonsynonymous SNV	C4orf54:NM_001354435:exon2:c.G2591C:p.R864T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	.	.	0.895	L	0.57	T	-0.576	T	0.191	T	0.395	3.061	16.22	4.47	2.310	6.635	17.332	0.133	0.176392343732	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs568216375	8.672e-06	8.209e-06	8.56e-06	8.787e-06	0.0002	4.62e-06	3.65e-06	5.45e-05	3.559e-05	0	0	0	0.0001	0	0.0002	9.269e-07	6.908e-05	1.262e-05	1.969e-05	1.968e-05	1.285e-05	2.685e-05	0.0004	5.24e-06	2.45e-06	6.85e-05	2.865e-05	0	0	0	0	0.0004	0	0	1.47e-05	0	0	0.0	0.91255	D	0.562	0.09052	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	0.54347	T	-1.01	0.26639	N	0.626	0.64052	-0.5759	0.65780	T	0.191	0.54315	T	6	0.40609443	0.55903	T	0.176392	0.85217	D	0.133	0.36157	0.218	0.13932	0.518254980372	0.51468	0.4925434668243248	0.49175	.	.	.	.	.	0.069277	0.33668	T	-0.0527624	0.44026	T	-0.313566	0.43274	T	0.725982468824248	0.42003	D	0.634537	0.24876	T	0.355565	0.57497	0.34902453	0.60533	0.355565	0.57497	0.34902453	0.60533	-6.484	0.50163	T	.	.	0.759	0.75438	P	.	.	4.256619	0.64649	24.7	0.97361541884013081	0.33573	0.99323	0.94492	D	AEFDBI	0.795508	0.72290	D	0.260739819583018	0.54173	3.583487	0.304591408394096	0.55809	3.743729	0.999999999810996	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.47	4.47	0.53770	3.777000	0.55071	4.661000	0.44237	0.599000	0.40250	1.000000	0.71638	0.974000	0.29927	0.355000	0.25773	0.0:1.0:0.0:0.0	17.332	0.87157	926	0.17793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1522.98	35	chr4	99652058	.	C	G	1522.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.899e+00;DP=1306;ExcessHet=0.0000;FS=0.633;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.65;ReadPosRankSum=-2.860e-01;SOR=0.623	GT:AD:DP:GQ:PL	0/0:66,0:66:99:0,120,1800	20	0	1	0
chr4	99652474	99652474	C	A	exonic	C4orf54	.	nonsynonymous SNV	C4orf54:NM_001354435:exon2:c.G2175T:p.E725D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	.	.	.	.	.	.	.	.	0.345	N	2.28	T	-1.011	T	0.022	T	0.087	2.542	14.46	1.7	0.578	-0.142	2.589	0.033	0.00438324797833	.	.	8.203e-05	0	0	0	0	0	0.0077	0	2.59e-05	4	154602	rs565917055	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	6.331e-05	0.0001	0	0	0.0002	0	0.0003	0.0005	0.0003	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	7.218e-05	0	0	0	0.0006	0.0002	0.0034	0.0005	0	0.0010	0.227	0.18498	T	0.544	0.09621	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.28	0.17271	T	-0.31	0.12099	N	0.11	0.09631	-1.0108	0.26666	T	0.022	0.09330	T	6	0.06921783	0.09899	T	0.004383	0.10687	T	0.033	0.08068	0.222	0.14518	0.101711395817	0.09552	0.2161820368808684	0.21534	.	.	.	.	.	0.011177	0.10005	T	-0.586027	0.00177	T	-0.734626	0.04120	T	0.0528122447431087	0.05987	T	0.452755	0.12846	T	0.05726467	0.11375	0.049784932	0.07678	0.05726467	0.11375	0.049784932	0.07678	-3.394	0.14976	T	.	.	0.204	0.42891	B	.	.	2.191653	0.27947	17.63	0.99532744176648891	0.69963	0.74011	0.36201	D	AEFBI	0.207985	0.33410	N	-0.165697794737922	0.34568	1.974751	-0.110709881615865	0.34958	2.016789	0.999695332595845	0.41870	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.66	1.7	0.23359	-0.141000	0.10308	-0.396000	0.09442	0.599000	0.40250	0.855000	0.30528	0.083000	0.22416	0.998000	0.85391	0.1955:0.5112:0.118:0.1753	2.589	0.04543	927	0.17636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3207.98	35	chr4	99652474	.	C	A	3207.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.490e-01;DP=1525;ExcessHet=0.0000;FS=3.151;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.95;ReadPosRankSum=-1.390e-01;SOR=0.622	GT:AD:DP:GQ:PL	0/0:66,0:66:99:0,120,1800	20	0	1	0
chr4	100475106	100475106	G	A	exonic	EMCN	.	nonsynonymous SNV	EMCN:NM_001159694:exon3:c.C191T:p.T64I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.548	P	0.192	B	0.409	N	1.000	N	0.895	L	.	.	-1.059	T	0.053	T	0.104	1.147	9.670	1.58	0.430	0.115	4.235	0.014	0.00359542585754	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866956563	8.325e-06	1.507e-05	9.037e-06	7.605e-06	0.0002	4.47e-06	3.27e-06	4.98e-06	3.63e-06	0	0	0	0	0	0.0002	9.849e-06	0	0	6.579e-06	6.568e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.069	0.68238	T	0.167	0.36630	T	0.548	0.38076	P	0.192	0.36449	B	0.409181	0.13020	N	0.629834	1	0.08975	N	0.625	0.15840	N	.	.	.	-1.75	0.58248	N	0.071	0.05414	-1.0589	0.12032	T	0.053	0.22307	T	9	0.07266083	0.10878	T	0.003595	0.08216	T	0.014	0.01968	0.485	0.56780	0.0297737177859	0.01360	0.40604538222373726	0.40520	0.0526180103936	0.05794	0.271687507629	0.06363	T	0.047654	0.27785	T	-0.209043	0.19513	T	-0.538052	0.18489	T	0.0771750780552585	0.09621	T	0.649435	0.26018	T	0.029478999	0.02450	0.039687444	0.04118	0.029478999	0.02450	0.039687444	0.04118	-4.266	0.29298	T	.	.	0.114	0.34580	B	.;.;.;.	.;.;.;.	1.568807	0.20088	14.58	0.97205216725449162	0.32829	0.02933	0.07750	N	AEFI	0.052326	0.09328	N	-0.948556229486688	0.09725	0.4615381	-0.99671274983922	0.09859	0.4929804	8.98781860106781E-5	0.04703	0.732398	0.92422	0	0.573888	0.26702	0	0.573888	0.23631	0	0.727631	0.95156	0	.	.	3.3	1.58	0.22557	0.123000	0.15536	-0.106000	0.11884	-0.114000	0.14653	0.041000	0.21027	0.000000	0.08366	0.431000	0.27472	0.1205:0.0:0.6543:0.2252	4.235	0.10073	581	0.69614	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	577.98	57	chr4	100475106	.	G	A	577.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.040;DP=739;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=0.970;SOR=0.832	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,923	20	0	1	0
chr4	101196010	101196010	C	G	exonic	PPP3CA	.	nonsynonymous SNV	PPP3CA:NM_000944:exon2:c.G165C:p.R55S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.982	D	0.000	D	1.000	D	3.525	H	3.38	T	0.145	D	0.589	D	0.953	2.042	12.78	2.0	-0.059	-0.164	10.653	0.542	0.353534218001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.017	0.83351	D	0.998	0.73220	D	0.966	0.71341	D	0.000004	0.62929	D	0.056881	0.999911	0.81001	D	3.325	0.90780	M	3.38	0.70365	T	-3.07	0.88065	D	0.939	0.94550	0.145	0.84969	D	0.589	0.85259	D	10	0.5369051	0.63499	D	0.353534	0.92331	D	0.542	0.80901	0.434	0.48500	0.966502697184	0.96614	0.9224824476460386	0.92225	2.40020819914	0.97175	0.78887450695	0.80271	T	0.798026	0.94820	D	0.316579	0.84226	D	0.216967	0.84021	D	0.9861741065979	0.76962	D	0.997517	0.98983	D	0.96387434	0.97668	0.8698088	0.92852	0.96387434	0.97668	0.8698088	0.92853	-3.337	0.99288	T	0.927214547401517	0.96958	0.982	0.97319	P	.;.;.;.;.;.	.;.;.;.;.;.	2.607304	0.33856	19.46	0.98219283723808459	0.39281	0.55150	0.29792	D	AEFBI	0.165597	0.29210	N	0.14515803016552	0.48582	3.068794	0.0200804544599741	0.40649	2.429266	0.99974081000684	0.42466	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.65	2.0	0.25495	-0.541000	0.06187	0.576000	0.19656	-0.172000	0.11096	0.180000	0.24064	0.998000	0.33993	0.994000	0.71098	0.0:0.5748:0.0:0.4252	10.653	0.44850	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	197.31	173	chr4	101196010	.	C	G	197.31	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-3.836e+00;DP=1770;ExcessHet=0.1072;FS=168.437;InbreedingCoeff=-0.0910;MLEAC=2;MLEAF=0.056;MQ=60.00;MQRankSum=0.00;QD=0.62;ReadPosRankSum=0.644;SOR=9.129	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:173,0:173:81:.:.:0,81,3220	16	0	2	3
chr4	101196011	101196011	C	G	exonic	PPP3CA	.	nonsynonymous SNV	PPP3CA:NM_000944:exon2:c.G164C:p.R55T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.988	D	0.000	D	1.000	D	3.525	H	3.41	T	0.511	D	0.660	D	0.889	3.815	19.37	5.65	2.824	7.496	19.084	0.561	0.243660755304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.021	0.79402	D	0.998	0.73220	D	0.975	0.73362	D	0.000004	0.62929	D	0.056881	0.999999	0.81001	D	3.325	0.90780	M	3.41	0.70365	T	-3.5	0.88148	D	0.874	0.87157	0.511	0.90696	D	0.660	0.88193	D	10	0.82876897	0.82046	D	0.243661	0.88811	D	0.561	0.82003	0.413	0.45052	0.874410110515	0.87318	0.9160898921350675	0.91583	2.69341285729	0.98560	0.813101530075	0.83969	D	0.783131	0.94293	D	0.365848	0.87692	D	0.287739	0.87534	D	0.98066520690918	0.73482	D	0.997593	0.99042	D	0.93468946	0.94708	0.8180235	0.89412	0.93468946	0.94709	0.8180235	0.89413	-3.957	0.99447	T	0.7273859440343144	0.80888	0.972	0.95832	P	.;.;.;.;.;.	.;.;.;.;.;.	4.473321	0.69731	25.4	0.96904989471550151	0.31554	0.98495	0.83383	D	AEFBI	0.911333	0.87045	D	0.976696518006935	0.94982	13.20586	0.918319001961986	0.96323	14.55806	1.0	0.98316	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.65	5.65	0.86881	7.624000	0.82310	7.603000	0.61629	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.084	0.93179	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	534.79	173	chr4	101196011	.	C	G	534.79	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.373e+00;DP=2716;ExcessHet=1.1607;FS=204.564;InbreedingCoeff=-0.4002;MLEAC=9;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=0.64;ReadPosRankSum=1.07;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:142,0:142:0:.:.:0,0,2278	2	0	5	14
chr4	101196015	101196015	C	T	exonic	PPP3CA	.	nonsynonymous SNV	PPP3CA:NM_000944:exon2:c.G160A:p.G54R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.555	H	3.36	T	0.428	D	0.620	D	0.913	3.976	20.4	5.65	2.824	7.496	19.084	0.546	0.357644531789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000059	0.53742	D	0.123284	0.998229	0.81001	D	3.34	0.90961	M	3.36	0.69287	T	-3.81	0.95842	D	0.816	0.81261	0.428	0.89507	D	0.620	0.86597	D	10	0.8419089	0.83347	D	0.357645	0.92431	D	0.546	0.81135	0.377	0.39156	0.864176412091	0.86286	0.9159854526096978	0.91573	2.47311793574	0.97507	0.874480307102	0.93203	D	0.801841	0.94956	D	0.38785	0.89198	D	0.319343	0.89062	D	0.996576365644164	0.89629	D	0.999394	0.99801	D	0.9461721	0.95876	0.856816	0.91963	0.9461721	0.95876	0.856816	0.91963	-3.186	0.92607	T	0.8000097979291737	0.87694	0.993	0.98907	P	.;.;.;.;.;.	.;.;.;.;.;.	4.625357	0.73491	26.0	0.99886075615728065	0.96126	0.97928	0.78194	D	AEFBI	0.904937	0.85584	D	1.01926601861206	0.96308	14.53905	0.951211567613319	0.97440	16.13271	1.0	0.98316	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.65	5.65	0.86881	7.624000	0.82310	7.603000	0.61629	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	19.084	0.93179	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02941	120.14	37	chr4	101196015	.	C	T	120.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-4.324e+00;DP=1755;ExcessHet=0.0000;FS=187.820;InbreedingCoeff=-0.0769;MLEAC=1;MLEAF=0.029;MQ=60.00;MQRankSum=0.00;QD=1.04;ReadPosRankSum=1.71;SOR=7.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:168,0:168:82:.:.:0,82,3875	16	0	1	4
chr4	102632140	102632140	T	C	exonic	MANBA	.	nonsynonymous SNV	MANBA:NM_005908:exon17:c.A2557G:p.I853V,	Mannosidosis, beta, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.005	B	0.027	N	1.000	N	-1.155	N	-0.27	T	-0.955	T	0.064	T	0.028	-1.103	0.141	-2.65	-0.533	0.833	11.824	0.151	0.00563030375109	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1448619062	6.844e-06	8.209e-06	8.172e-06	5.502e-06	8.997e-06	3.46e-06	2.52e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.997e-06	0	0	1.314e-05	1.313e-05	1.284e-05	1.344e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.005	0.11217	B	0.026568	0.25897	N	0.407520	1	0.08975	N	-0.85	0.01485	N	-0.27	0.67367	T	0.11	0.05706	N	0.036	0.07262	-0.9551	0.40078	T	0.064	0.26562	T	10	0.035478115	0.01799	T	0.00563	0.14560	T	0.151	0.39764	0.538	0.64874	0.458554320643	0.45480	0.19161018729350507	0.19079	0.0643675075442	0.07174	0.286051988602	0.08350	T	0.223309	0.58742	T	-0.277945	0.10887	T	-0.637025	0.09888	T	0.0234456345567771	0.01076	T	0.658334	0.26756	T	0.010921787	0.00011	0.018927403	0.00071	0.010921787	0.00011	0.018927403	0.00071	-0.591	0.00642	T	0.033849461633612805	0.00153	0.064	0.01960	B	.;.;.;.	.;.;.;.	0.063057	0.04735	1.363	0.34557342801114366	0.02120	0.01614	0.05222	N	AEFDGBI	0.042080	0.06482	N	-1.46678783331584	0.02088	0.09184995	-1.35160855741443	0.03787	0.1773629	0.998752978576264	0.37602	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.678554	0.66404	0	.	.	5.15	-2.65	0.05739	0.867000	0.27621	-2.240000	0.04011	-0.194000	0.09177	0.307000	0.25387	0.000000	0.08366	0.950000	0.49671	0.0:0.4832:0.0:0.5168	11.824	0.51530	957	0.09725	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3164.98	44	chr4	102632140	.	T	C	3164.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.10;DP=1284;ExcessHet=0.0000;FS=4.114;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=1.31;SOR=0.939	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1800	20	0	1	0
chr4	102634907	102634907	G	A	exonic	MANBA	.	nonsynonymous SNV	MANBA:NM_005908:exon16:c.C2296T:p.R766W,	Mannosidosis, beta, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	291854	Beta-D-mannosidosis|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0009562,MedGen:C4048196,OMIM:248510,Orphanet:118|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	0.999	D	2.785	M	-0.51	T	0.217	D	0.552	D	0.956	3.105	16.37	2.16	0.427	1.902	15.394	0.533	0.124544311761	0.0003	0.000199681	0.0003	0.0005	0.0002	0	0	0.0005	0	0	0.0002781	43	154602	rs147428514	0.0001	0.0001	0.0001	0.0001	0.0012	0.0001	9.415e-05	0.0006	0.0004	5.974e-05	8.944e-05	3.826e-05	2.519e-05	0	0.0012	0.0001	0.0003	2.319e-05	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0003	0.0002	0.0005	0	0.0002	0	0	0	0	0.0002	0.0009	0	0.001	0.78490	D	0.006	0.70582	D	1.0	0.90584	D	0.965	0.86255	D	0.000000	0.84330	D	0.000000	0.995607	0.45122	D	3.355	0.91145	M	-0.51	0.70597	T	-5.12	0.83157	D	0.916	0.92667	0.217	0.86196	D	0.552	0.83616	D	10	0.7362776	0.74643	D	0.124544	0.80592	D	0.533	0.80367	.	.	0.720089310777	0.71761	0.6554703107100668	0.65483	0.443486916412	0.44272	0.498697578907	0.38646	T	0.790166	0.94541	D	0.108927	0.65240	D	0.232948	0.84813	D	0.8449387550354	0.49735	D	0.953205	0.83962	D	0.36352092	0.58102	0.28924838	0.54944	0.36352092	0.58103	0.28924838	0.54943	-9.659	0.71845	D	0.8075268823737142	0.88311	0.278	0.51174	B	.;.;.;.;.	.;.;.;.;.	4.419521	0.68443	25.2	0.99778411737452199	0.86519	0.86489	0.45780	D	AEFBI	0.540676	0.55714	D	0.17838079553596	0.50162	3.208901	-0.034381710879648	0.38173	2.245276	0.877093896365432	0.25539	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.655142	0.61905	0	.	.	5.3	2.16	0.26663	1.925000	0.39705	4.347000	0.43075	0.676000	0.76740	0.973000	0.34540	1.000000	0.68203	0.002000	0.04165	0.0:0.0:0.3928:0.6072	15.394	0.74501	957	0.09725	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2619.98	39	chr4	102634907	.	G	A	2619.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=964;ExcessHet=0.0000;FS=3.551;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.06;ReadPosRankSum=-8.980e-01;SOR=0.991	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr4	102690717	102690717	C	G	exonic	MANBA	.	nonsynonymous SNV	MANBA:NM_005908:exon6:c.G728C:p.S243T,	Mannosidosis, beta, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.081	B	0.021	B	0.010	N	0.843	N	1.75	L	0.27	T	-0.978	T	0.150	T	0.278	1.076	9.392	4.19	1.347	2.035	11.824	0.072	0.0137621659089	.	0.000199681	8.241e-06	0	0	0	0	0	0	6.058e-05	1.29e-05	2	154602	rs558147078	1.376e-06	1.368e-06	0	2.764e-06	2.344e-05	2.3e-07	9e-08	3.89e-06	1.46e-06	0	0	0	0	0	0	0	0	2.344e-05	6.581e-06	6.565e-06	1.287e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.207	0.21066	T	0.469	0.12386	T	0.047	0.24602	B	0.021	0.19346	B	0.009867	0.30165	N	0.413619	0.843134	0.28602	N	2.22	0.62911	M	0.27	0.59176	T	-0.99	0.26200	N	0.17	0.18512	-0.9775	0.35571	T	0.150	0.47822	T	10	0.09206352	0.16180	T	0.013762	0.33405	T	0.072	0.21020	0.321	0.30064	0.51721326083	0.51363	0.47725334954936904	0.47645	0.0983236163126	0.11101	0.478397965431	0.35836	T	0.250217	0.62029	T	-0.170914	0.25095	T	-0.382652	0.35411	T	0.198115110397339	0.20311	T	0.727427	0.34274	T	0.04006255	0.05647	0.0598956	0.11318	0.04006255	0.05647	0.0598956	0.11318	-5.81	0.44661	T	0.3237990493885038	0.42195	0.089	0.22208	B	.;.;.;.;.	.;.;.;.;.	3.020774	0.40428	21.2	0.8993972450031017	0.19237	0.86297	0.45550	D	AEFBI	0.194528	0.32160	N	-0.401493736842382	0.25417	1.379584	-0.271589689182837	0.29039	1.623755	0.999915741779016	0.45857	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.668105	0.65232	0	.	.	5.02	4.19	0.48645	2.108000	0.41478	3.297000	0.37352	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.904000	0.43992	0.0:0.9195:0.0:0.0805	11.824	0.51530	952	0.10565	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1507.98	58	chr4	102690717	.	C	G	1507.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.821e+00;DP=1066;ExcessHet=0.0000;FS=3.630;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=1.68;SOR=0.424	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,105,1575	20	0	1	0
chr4	103123040	103123040	G	C	exonic	CENPE	.	nonsynonymous SNV	CENPE:NM_001286734:exon41:c.C6611G:p.S2204C	.	.	440	1031	46	5	0	56	0.02644	.	.	363639	not_provided|CENPE-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.001	B	0.001	B	.	.	1.000	N	0.14	N	-0.0	T	-1.035	T	0.078	T	0.156	1.297	10.25	1.88	0.397	0.256	6.601	0.066	.	0.0053	0.00599042	0.0071	0.0009	0.0032	0	0.0008	0.0070	0.0165	0.0202	0.0067658	1046	154602	rs61751592	0.0069	0.0069	0.0062	0.0075	0.0205	0.0067	0.0067	0.0197	0.0194	0.0011	0.0030	0.0191	5.043e-05	0.0007	0.0146	0.0063	0.0080	0.0205	0.0055	0.0055	0.0057	0.0054	0.0185	0.0052	0.0051	0.0154	0.0142	0.0011	0	0.0055	0.0245	0.0002	0.0006	0.0171	0.0074	0.0095	0.0185	0.289	0.25457	T	0.229	0.25210	T	0.0	0.07471	B	0.0	0.04355	B	.	.	.	.	1	0.08975	N	-0.06	0.04898	N	-0.0	0.62762	T	2.46	0.00478	N	0.214	0.24010	-1.0353	0.18762	T	0.078	0.31012	T	9	0.0037833452	0.00071	T	.	.	.	0.066	0.19193	.	.	0.27715347029	0.27323	0.10530451158643887	0.10460	0.0379199756883	0.04027	0.339432835579	0.16352	T	0.029523	0.21136	T	-0.521914	0.00429	T	-0.506213	0.21705	T	0.00245141748632163	0.00025	T	0.589341	0.22547	T	0.03519231	0.04095	0.044902492	0.05921	0.036797013	0.04597	0.05709746	0.10320	-4.187	0.26563	T	.	.	0.091	0.16973	B	.;.;.	.;.;.	0.848608	0.12204	8.752	0.96871932267467953	0.31423	0.01065	0.03951	N	AEFBI	0.035227	0.04498	N	-0.922340630374555	0.10321	0.4926205	-0.873426888120818	0.12725	0.6562592	0.00249431243295335	0.09478	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.71	1.88	0.24630	0.103000	0.15128	0.725000	0.21043	0.509000	0.23192	0.000000	0.06391	0.001000	0.17328	0.889000	0.42754	0.1106:0.4497:0.4397:0.0	6.601	0.21892	917	0.20147	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1000.98	39	chr4	103123040	.	G	C	1000.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.330e-01;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.35;ReadPosRankSum=1.48;SOR=0.757	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1058	20	0	1	0
chr4	103153047	103153047	C	T	exonic	CENPE	.	nonsynonymous SNV	CENPE:NM_001286734:exon24:c.G3162A:p.M1054I	.	.	644	877	1	0	0	1	0.000569801	1.0000	0.99	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.451	B	0.077	B	.	.	0.960	D	1.995	M	-3.35	D	0.317	D	0.682	D	0.294	1.704	11.66	4.53	2.330	2.568	10.524	0.264	0.0911568878496	0.0002	0.000199681	0.0002	0	0.0002	0	0	0.0002	0.0012	7.222e-05	0.0001423	22	154602	rs150907416	8.122e-05	8.14e-05	7.259e-05	8.994e-05	0.0028	6.91e-05	6.46e-05	0.0018	0.0014	0	0.0002	0.0003	0	0	0.0028	6.864e-05	0.0001	5.899e-05	6.571e-05	6.563e-05	7.713e-05	5.376e-05	0.0001	3.516e-05	2.616e-05	2.847e-05	1.859e-05	4.816e-05	0	0.0001	0	0	0	0	7.353e-05	0.0005	0	0.001	0.91255	D	0.105	0.38016	T	0.451	0.36091	B	0.07	0.28532	B	.	.	.	.	0.959934	0.38153	D	2.52	0.73523	M	-3.35	0.94022	D	-1.64	0.42763	N	0.398	0.43899	0.317	0.87828	D	0.682	0.89018	D	8	0.07596052	0.11805	T	0.091157	0.75654	D	0.264	0.57741	0.19	0.10039	0.591028040172	0.58780	0.21279998098495562	0.21195	0.0643614342175	0.07174	0.563201487064	0.47719	T	0.057053	0.30459	T	-0.0461918	0.45023	T	-0.0396994	0.67721	D	0.109775996960493	0.13400	T	0.813219	0.46599	T	0.49649844	0.66889	0.4579249	0.68500	0.49649844	0.66890	0.4579249	0.68501	-3.092	0.11205	T	0.7502024438304232	0.83228	0.641	0.73066	P	.;.;.;.	.;.;.;.	4.565926	0.71987	25.8	0.95725093176073117	0.27656	0.86780	0.46136	D	AEFBI	0.289828	0.40137	N	0.144032716023555	0.48530	3.064133	0.222730288136605	0.51111	3.296526	0.9998562892501	0.44174	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.53	4.53	0.55009	3.667000	0.54283	6.789000	0.56601	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:0.9059:0.0:0.0941	10.524	0.44121	911	0.21964	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	804.98	34	chr4	103153047	.	C	T	804.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.15;ReadPosRankSum=0.193;SOR=0.720	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,105,1575	20	0	1	0
chr4	103161453	103161453	C	A	exonic	CENPE	.	nonsynonymous SNV	CENPE:NM_001286734:exon18:c.G1772T:p.S591I	.	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.008	B	0.004	B	.	.	1.000	N	0.345	N	0.5	T	-1.012	T	0.108	T	0.346	-0.130	3.362	-7.91	-0.971	-0.326	4.205	0.063	0.0199999303879	0.0002	.	1.66e-05	0	0	0	0	3.008e-05	0	0	1.94e-05	3	154602	rs144782566	4.063e-05	4.036e-05	3.342e-05	4.794e-05	0.0009	3.188e-05	2.915e-05	0.0004	0.0002	0	0	0	0	0	0.0009	3.454e-05	0.0001	8.942e-05	2.631e-05	2.627e-05	2.571e-05	2.694e-05	5.886e-05	8.15e-06	5.14e-06	1.973e-05	1.125e-05	0	0	0	0	0	0	0	5.886e-05	0	0	0.003	0.68238	D	0.21	0.27235	T	0.008	0.14655	B	0.001	0.10090	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	0.5	0.67874	T	-0.77	0.40660	N	0.136	0.21969	-1.0122	0.26228	T	0.108	0.39075	T	9	0.043705106	0.03248	T	0.02	0.42500	T	0.063	0.18251	.	.	0.576539395642	0.57322	0.04023553371420526	0.03969	0.0431053341588	0.04645	0.346014976501	0.17333	T	0.037303	0.24427	T	-0.191963	0.21971	T	-0.377607	0.36003	T	0.0287682600764864	0.01803	T	0.525647	0.17968	T	0.1252473	0.29365	0.09330758	0.22033	0.1252473	0.29365	0.09330758	0.22032	-4.671	0.33051	T	0.2152650057572829	0.28938	0.084	0.12938	B	.;.;.;.	.;.;.;.	0.644785	0.10131	6.877	0.68445240213857128	0.08660	0.02491	0.06969	N	AEFBI	0.036820	0.04968	N	-1.45543978445712	0.02174	0.09572169	-1.53238438647964	0.02100	0.09605534	0.999798190606738	0.43153	0.706298	0.61202	0	0.724815	0.89359	0	0.608884	0.39905	0	0.613276	0.41899	0	.	.	5.32	-7.91	0.01031	-0.397000	0.07329	0.118000	0.14877	-0.341000	0.05685	0.000000	0.06391	0.489000	0.25143	0.333000	0.25271	0.2139:0.4803:0.1141:0.1916	4.205	0.09942	906	0.23090	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1203.98	37	chr4	103161453	.	C	A	1203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.159;DP=948;ExcessHet=0.0000;FS=0.630;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.79;ReadPosRankSum=-2.860e-01;SOR=0.633	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,105,1575	20	0	1	0
chr4	105645150	105645221	TATGTTTGTGAAACTGATATTATTTATCTGTATTGTAGAGGCAAACCAAACTTATTGGACATGGGCTCTTTG	-	exonic	ARHGEF38	.	stopgain	ARHGEF38:NM_001242729:exon6:c.675_708del:p.G226*,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0001	6.131e-05	0.0003	0.0050	0.0001	0.0001	0.0044	0.0041	0	0	0	0	0	0	3.301e-06	8.776e-05	0.0050	7.889e-05	8.543e-05	2.573e-05	0.0001	0.0025	4.499e-05	3.514e-05	0.0014	0.0011	0	0	0	0	0	0	0	0	0	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1186.94	34	chr4	105645149	.	ATATGTTTGTGAAACTGATATTATTTATCTGTATTGTAGAGGCAAACCAAACTTATTGGACATGGGCTCTTTG	A	1186.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.26;DP=920;ExcessHet=0.0000;FS=5.694;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.35;ReadPosRankSum=-1.735e+00;SOR=1.129	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1392	20	0	1	0
chr4	105667692	105667692	G	C	exonic	ARHGEF38	.	nonsynonymous SNV	ARHGEF38:NM_001242729:exon13:c.G2137C:p.V713L,	.	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.001	B	0.001	B	.	.	1.000	N	0	N	0.62	T	-1.071	T	0.062	T	0.073	1.484	10.91	4.89	2.699	1.383	11.099	0.077	.	.	0.00359425	0.0002	0.0017	0	0	0	0	0.0054	0.0001	0.0002005	31	154602	rs143852501	0.0003	0.0002	0.0003	0.0002	0.0083	0.0002	0.0002	0.0075	0.0072	0.0083	0.0008	0	0	0	0.0011	2.781e-06	0.0009	0.0001	0.0021	0.0021	0.0021	0.0021	0.0074	0.0019	0.0018	0.0067	0.0064	0.0074	0	0.0005	0	0	0	0	0	0.0009	0	0.73	0.03811	T	0.737	0.05036	T	.	.	.	.	.	.	.	.	.	.	0.966394	0.25896	N	0	0.06538	N	0.62	0.53302	T	-0.72	0.20358	N	0.139	0.13769	-1.0714	0.09108	T	0.062	0.25708	T	9	0.0043308735	0.00088	T	.	.	.	0.077	0.22490	0.381	0.39807	0.117506650769	0.11410	0.13155079502523032	0.13080	0.0435161349197	0.04688	0.384368628263	0.22874	T	0.004008	0.03423	T	-0.620249	0.00110	T	-0.659296	0.08315	T	0.0055342682780892	0.00060	T	0.586341	0.21412	T	0.08279595	0.19091	0.10641788	0.25601	0.08279595	0.19091	0.10641788	0.25601	-3.201	0.12493	T	.	.	0.094	0.14568	B	.	.	2.000965	0.25425	16.76	0.95652076718299128	0.27468	0.58953	0.30782	D	AEFI	0.217637	0.34274	N	-0.480064563289934	0.22734	1.216048	-0.270255500592711	0.29083	1.626617	0.517411670111624	0.21068	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.73	4.89	0.63387	1.887000	0.39332	4.392000	0.43217	0.676000	0.76740	0.227000	0.24611	1.000000	0.68203	0.982000	0.59238	0.1425:0.0:0.8575:0.0	11.099	0.47380	855	0.34697	SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2064.98	41	chr4	105667692	.	G	C	2064.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.744;DP=933;ExcessHet=0.0000;FS=2.714;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.08;ReadPosRankSum=-3.180e-01;SOR=0.904	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,101,1199	20	0	1	0
chr4	105718019	105718019	T	A	exonic	GSTCD	.	nonsynonymous SNV	GSTCD:NM_001031720:exon2:c.T406A:p.C136S	.	.	437	1051	30	4	0	38	0.017757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.999	D	0.000	D	1.000	D	2.39	M	.	.	-0.221	T	0.361	T	0.935	4.348	22.9	5.55	2.122	7.458	15.692	0.625	0.00853760859311	0.0032	0.00379393	0.0044	0.0003	0.0020	0	0.0012	0.0051	0.0057	0.0096	0.0040491	626	154602	rs61736388	0.0040	0.0040	0.0039	0.0042	0.0086	0.0039	0.0039	0.0078	0.0076	0.0006	0.0019	0.0208	0	0.0016	0.0086	0.0036	0.0059	0.0083	0.0031	0.0031	0.0031	0.0031	0.0077	0.0029	0.0028	0.0057	0.0050	0.0006	0.0241	0.0017	0.0202	0	0.0008	0.0102	0.0040	0.0047	0.0077	0.087	0.91255	T	0.103	0.92824	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.71	0.79292	M	.	.	.	-5.9	0.93135	D	0.881	0.91047	-0.2212	0.77119	T	0.361	0.72269	T	9	0.013461858	0.00285	T	0.008538	0.22581	T	0.625	0.85511	0.868	0.96212	0.759368345555	0.75718	0.7117710643739951	0.71119	0.465067503905	0.45958	0.781764149666	0.79193	T	0.596905	0.87024	D	0.130843	0.67442	D	0.42072	0.92767	D	0.0257122164237303	0.01367	T	0.849815	0.60169	T	0.571717	0.71155	0.73034966	0.84067	0.571717	0.71156	0.73034966	0.84068	-6.404	0.49540	T	.	.	0.679	0.72466	P	.;.;.;.;.	.;.;.;.;.	3.946728	0.57785	23.9	0.99242258726319921	0.56597	0.98587	0.84406	D	AEFBI	0.930556	0.91804	D	0.784242927495699	0.85109	8.479491	0.760767139453527	0.86961	9.059617	0.999999999883866	0.74766	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.55	5.55	0.83298	7.437000	0.79579	7.771000	0.68472	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.692	0.77222	940	0.13648	Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;.;.;Glutathione S-transferase, C-terminal-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1026.98	35	chr4	105718019	.	T	A	1026.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.63;DP=768;ExcessHet=0.0000;FS=0.916;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=-4.630e-01;SOR=0.899	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1273	20	0	1	0
chr4	105927351	105927351	G	A	exonic	NPNT	.	nonsynonymous SNV	NPNT:NM_001033047:exon3:c.G188A:p.R63Q	.	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.001	B	0.002	B	0.203	N	1.000	N	-0.55	N	-0.22	T	-1.017	T	0.081	T	0.245	0.575	7.104	-1.61	-0.079	2.960	6.643	0.181	0.0146728784017	.	0.000998403	0.0006	0	0	0	0	1.512e-05	0	0.0045	0.0005433	84	154602	rs533479092	0.0003	0.0003	0.0002	0.0004	0.0037	0.0002	0.0002	0.0033	0.0032	0	4.496e-05	0	0	0	0.0009	4.954e-05	0.0002	0.0037	0.0002	0.0002	7.714e-05	0.0002	0.0041	0.0001	9.241e-05	0.0027	0.0023	2.409e-05	0	0	0	0	0	0	4.411e-05	0	0.0041	0.369	0.16198	T	0.181	0.35840	T	0.001	0.07471	B	0.0	0.06944	B	0.202849	0.16556	N	0.623147	1	0.08975	N	-1.245	0.00777	N	-0.22	0.66474	T	-0.22	0.12099	N	0.167	0.20395	-1.0167	0.24787	T	0.081	0.32002	T	10	0.016810298	0.00356	T	0.014673	0.34938	T	0.181	0.45247	0.541	0.65304	0.282575091529	0.27877	0.11749829438852655	0.11677	0.0599564255343	0.06670	0.202513605356	0.00533	T	0.060436	0.31388	T	-0.443118	0.01240	T	-0.409566	0.32275	T	0.0196754608650993	0.00670	T	0.871813	0.62362	D	0.029502943	0.02456	0.033401653	0.02229	0.029502943	0.02455	0.033401653	0.02229	-3.053	0.10763	T	.	.	0.056	0.00625	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.230224	0.28468	17.81	0.84472278409091095	0.15312	0.54462	0.29622	D	AEFBI	0.111430	0.22062	N	-1.08137897728246	0.06986	0.3232254	-0.988335456868793	0.10047	0.5035776	0.00426606430783798	0.10480	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.77	-1.61	0.07951	3.032000	0.49425	2.819000	0.34952	-0.148000	0.12190	1.000000	0.71638	1.000000	0.68203	0.245000	0.23132	0.1914:0.445:0.3636:0.0	6.643	0.22113	903	0.23940	EGF-like domain|EGF-like domain;.;.;.;.;.;EGF-like domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1826.98	35	chr4	105927351	.	G	A	1826.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.00;DP=852;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.94;ReadPosRankSum=-2.450e-01;SOR=0.724	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr4	105938318	105938318	A	T	exonic	NPNT	.	nonsynonymous SNV	NPNT:NM_001033047:exon5:c.A403T:p.M135L	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.024	B	0.025	B	0.000	N	0.959	D	0.195	N	2.16	T	-0.610	T	0.381	T	0.308	3.157	16.56	2.6	0.327	1.919	11.900	0.019	0.0180770075221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.24277	T	0.479	0.21011	T	0.008	0.16867	B	0.023	0.20508	B	0.000000	0.84330	N	0.144262	0.959056	0.38107	D	0.78	0.19475	N	-2.14	0.86415	D	-2.06	0.47175	N	0.393	0.50688	-0.6096	0.64420	T	0.381	0.73796	T	10	0.19107583	0.34779	T	0.018077	0.40021	T	0.165	0.42395	0.657	0.79482	0.673246092709	0.67048	0.3311572849612344	0.33028	0.0513843106545	0.05653	0.479988306761	0.36054	T	0.048059	0.45107	T	0.00905053	0.52895	T	-0.224776	0.52276	T	0.71270889043808	0.41333	D	0.809419	0.45992	T	0.3282018	0.55324	0.28014573	0.53988	0.3282018	0.55324	0.28014573	0.53987	-4.986	0.36720	T	.	.	0.079	0.26669	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.781806	0.36545	20.3	0.96485587991984123	0.29988	0.82974	0.42134	D	AEFBI	0.319311	0.42275	N	-0.43139598834648	0.24375	1.31571	-0.255617919699153	0.29577	1.658253	0.996836027561439	0.35047	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.22	2.6	0.30173	2.550000	0.45472	4.552000	0.43807	0.756000	0.94297	0.996000	0.39380	1.000000	0.68203	0.997000	0.79791	0.7232:0.2768:0.0:0.0	11.900	0.51959	898	0.25240	.;EGF-like domain;.;.;.;.;.;EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1528.98	34	chr4	105938318	.	A	T	1528.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.29;DP=815;ExcessHet=0.0000;FS=4.213;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=-6.920e-01;SOR=1.050	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1150	20	0	1	0
chr4	106095633	106095633	C	G	exonic	TBCK	.	nonsynonymous SNV	TBCK:NM_033115:exon23:c.G2231C:p.R744P	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, Autosomal recessive	.	438	1080	4	0	0	4	0.00184843	.	.	1016350	not_provided|Inborn_genetic_diseases|Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_3	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014823,MedGen:C5567480,OMIM:616900,Orphanet:488632	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.963	D	0.000	D	1.000	D	2.845	M	1.69	T	-0.617	T	0.210	T	0.938	4.628	25.3	5.41	2.541	6.444	19.224	0.491	0.0573226821713	.	.	0.0002	0	0	0	0	0.0001	0	0.0009	0.0001488	23	154602	rs767308208	8.633e-05	8.619e-05	6.817e-05	0.0001	0.0009	7.365e-05	6.914e-05	0.0008	0.0007	0	2.253e-05	0.0002	0	0	0.0002	3.331e-05	4.974e-05	0.0009	3.289e-05	3.284e-05	5.143e-05	1.347e-05	5.882e-05	1.262e-05	7.99e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.882e-05	0.0005	0	0.005	0.65419	D	0.02	0.60337	D	0.995	0.73220	D	0.963	0.70837	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.98	0.85499	M	1.69	0.27032	T	-4.32	0.76900	D	0.773	0.91047	-0.6173	0.64100	T	0.210	0.57027	T	10	0.60560703	0.67156	D	0.057323	0.66924	D	0.491	0.77783	.	.	0.599340405529	0.59615	0.8619260174308797	0.86156	0.495246887071	0.48067	0.642485022545	0.58917	T	0.082936	0.36940	T	-0.0270628	0.47842	T	0.112936	0.77768	D	0.664440751075745	0.39090	D	0.950705	0.81197	D	0.81326807	0.84770	0.74857193	0.85139	0.81326807	0.84771	0.74857193	0.85140	-12.771	0.88955	D	0.6017755914367349	0.66883	0.952	0.90360	P	.;.;.;.;.	.;.;.;.;.	5.571477	0.92222	32	0.99739527035648423	0.83409	0.97595	0.75784	D	AEFDBI	0.910251	0.86793	D	0.817555428722142	0.87192	9.133472	0.760782168029906	0.86961	9.060004	0.999999995888727	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.688494	0.62686	0	0.699875	0.68795	0	.	.	5.41	5.41	0.78313	6.579000	0.73923	7.539000	0.60051	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	19.224	0.93797	687	0.59234	Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;.;.;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	806.98	34	chr4	106095633	.	C	G	806.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.00;DP=749;ExcessHet=0.0000;FS=2.462;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=1.21;SOR=0.416	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1217	20	0	1	0
chr4	106367285	106367285	G	A	exonic	GIMD1	.	nonsynonymous SNV	GIMD1:NM_001195138:exon2:c.C151T:p.R51C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs867045299	6.504e-06	7.525e-06	7.133e-06	5.858e-06	0.0002	3.06e-06	2.22e-06	1.048e-05	3.92e-06	6.33e-05	0	0	2.799e-05	0	0.0002	3.708e-06	1.727e-05	0	5.921e-05	5.911e-05	2.572e-05	9.428e-05	0.0002	3.081e-05	2.212e-05	0.0001	8.464e-05	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.74	0.80084	M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15334386	0.28947	T	.	.	.	.	.	.	.	.	.	0.3493486424638165	0.34848	.	.	0.326490879059	0.14404	T	0.017001	0.13947	T	.	.	.	.	.	.	.	.	.	0.842916	0.51943	T	0.14123097	0.32552	0.15933697	0.37165	0.14123097	0.32551	0.15933697	0.37164	-5.382	0.40746	T	.	.	0.110	0.21125	B	.;.	.;.	2.342580	0.30025	18.31	0.67559866290113502	0.08391	0.24441	0.22394	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999594950859971	0.40745	0.065574	0.01310	0	0.063388	0.01293	0	0.078125	0.02361	0	0.062806	0.01542	0	0.377919	0.37042	4.97	3.25	0.36363	0.573000	0.23401	3.738000	0.39641	0.676000	0.76740	0.117000	0.23121	1.000000	0.68203	0.504000	0.29107	0.1469:0.0:0.8531:0.0	11.383	0.49009	787	0.46738	AIG1-type guanine nucleotide-binding (G) domain|AIG1-type guanine nucleotide-binding (G) domain;AIG1-type guanine nucleotide-binding (G) domain|AIG1-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2038.98	39	chr4	106367285	.	G	A	2038.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.13;DP=861;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=-3.760e-01;SOR=0.694	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1189	20	0	1	0
chr4	106925843	106925843	C	T	exonic	DKK2	.	nonsynonymous SNV	DKK2:NM_014421:exon2:c.G329A:p.C110Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.47	M	-0.26	T	0.412	D	0.664	D	0.981	4.876	27.9	5.42	2.704	7.410	19.578	0.827	0.176637981399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.654e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.955	0.85029	M	-1.1	0.77336	T	-9.32	0.98533	D	0.932	0.94314	0.412	0.89282	D	0.664	0.88336	D	10	0.98750603	0.99120	D	0.176638	0.85234	D	0.827	0.94503	0.93	0.98900	0.885162981381	0.88403	0.9789097433456503	0.97881	1.10494106084	0.77866	0.885924994946	0.94743	D	0.85182	0.96635	D	0.396691	0.89724	D	0.332043	0.89595	D	0.999862909317017	0.99418	D	0.89791	0.64303	D	0.95217484	0.96487	0.9381204	0.97644	0.95217484	0.96487	0.9381204	0.97644	-13.914	0.92774	D	.	.	0.997	0.96936	P	.;.;.	.;.;.	5.043277	0.83952	28.2	0.99769904833187384	0.85834	0.98670	0.85379	D	AEFBI	0.952747	0.96846	D	0.846721317432968	0.88920	9.763857	0.817088242842445	0.90956	10.64858	0.999999544324329	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	7.526000	0.80815	7.598000	0.61467	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.578	0.95446	856	0.34373	Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	1269.88	119	chr4	106925843	.	C	T	1269.88	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-3.410e+00;DP=2366;ExcessHet=2.5830;FS=168.069;InbreedingCoeff=-0.2387;MLEAC=8;MLEAF=0.211;MQ=60.00;MQRankSum=0.00;QD=1.25;ReadPosRankSum=0.981;SOR=11.937	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1295	12	0	7	2
chr4	108165124	108165124	C	T	exonic	LEF1	.	nonsynonymous SNV	LEF1:NM_001130713:exon2:c.G253A:p.D85N	Sebaceous tumors, somatic (3)	.	432	1045	42	3	0	48	0.0224509	.	.	698331	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.33	T	0.91	P	0.285	B	0.000	D	0.996	D	1.355	L	-5.51	D	0.801	D	0.883	D	0.095	4.992	29.3	5.8	2.758	5.325	20.069	0.486	.	0.0052	0.00579073	0.0084	0.0018	0.0110	0.0021	0.0103	0.0077	0.0066	0.0161	0.00815	1260	154602	rs61752607	0.0086	0.0086	0.0084	0.0087	0.0167	0.0085	0.0084	0.0160	0.0157	0.0018	0.0098	0.0014	0.0070	0.0095	0.0099	0.0083	0.0085	0.0167	0.0062	0.0063	0.0065	0.0059	0.0123	0.0059	0.0058	0.0098	0.0089	0.0018	0.0121	0.0088	0.0006	0.0027	0.0087	0.0068	0.0079	0.0104	0.0123	0.301	0.78490	T	0.258	0.64786	T	0.165	0.49442	B	0.028	0.37187	B	0.000000	0.84330	D	0.049443	0.994903	0.43008	D	1.385	0.34509	L	-5.56	0.99392	D	-2.18	0.55662	N	0.536	0.61002	0.801	0.94421	D	0.883	0.96129	D	10	0.010001779	0.00224	T	.	.	.	0.486	0.77464	.	.	0.802756854265	0.80091	0.26479490399013794	0.26392	0.279026521573	0.30382	0.602982640266	0.53325	T	0.495556	0.81823	T	-0.262121	0.12654	T	-0.136322	0.60436	T	0.0226908288392035	0.00987	T	0.981302	0.95706	D	0.21579985	0.44022	0.3188588	0.57851	0.21579985	0.44022	0.3188588	0.57850	-4.164	0.31356	T	.	.	0.104	0.24294	B	.;.;.;.;.;.	.;.;.;.;.;.	4.467721	0.69589	25.4	0.99902625920476185	0.97426	0.97734	0.76747	D	AEFDBI	0.791559	0.72011	D	0.268939013737371	0.54580	3.623	0.409850153705389	0.62176	4.428918	0.999999999997982	0.74766	0.625279	0.40028	0	0.60822	0.50512	0	0.590023	0.30420	0	0.530356	0.10902	0	.	.	5.8	5.8	0.92081	5.399000	0.66059	7.658000	0.64072	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	20.069	0.97712	943	0.12886	CTNNB1 binding, N-teminal;.;.;.;CTNNB1 binding, N-teminal;CTNNB1 binding, N-teminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2140.11	33	chr4	108165124	.	C	T	2140.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.01;DP=872;ExcessHet=0.1072;FS=4.724;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.91;ReadPosRankSum=-1.099e+00;SOR=1.002	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1074	19	0	2	0
chr4	108889244	108889244	C	G	exonic	COL25A1	.	nonsynonymous SNV	COL25A1:NM_001256074:exon16:c.G940C:p.E314Q	Fibrosis of extraocular muscles, congenital, 5, Autosomal recessive	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.996	D	0.986	D	0.000	D	0.804	D	0.99	L	1.84	T	-0.971	T	0.117	T	0.38	3.567	18.18	5.64	2.660	5.773	18.672	0.150	0.0185163256039	.	.	0.0003	0	8.651e-05	0.0017	0	0.0002	0	0	0.0002135	33	154602	rs202026836	0.0001	0.0001	0.0001	0.0001	0.0013	8.985e-05	8.468e-05	0.0010	0.0009	0	0	0.0011	0.0013	1.872e-05	0.0002	4.318e-05	0.0003	6.958e-05	7.227e-05	7.218e-05	0.0001	4.031e-05	0.0010	3.971e-05	3.127e-05	0.0004	0.0002	0	0	0	0.0006	0.0010	0	0	5.883e-05	0	0	0.592	0.26519	T	0.575	0.14725	T	0.924	0.68779	P	0.706	0.76916	P	0.000008	0.62929	D	0.062827	0.804483	0.34555	D	1.185	0.30054	L	1.84	0.24656	T	-1.35	0.33598	N	0.402	0.48504	-0.9707	0.37052	T	0.117	0.41165	T	9	0.062003434	0.07861	T	0.018516	0.40611	T	0.150	0.39571	0.319	0.29741	0.785142519441	0.78315	0.6013103194375976	0.60062	1.00295307303	0.74474	0.673310518265	0.63310	T	0.028298	0.74793	T	-0.423154	0.01633	T	-0.405236	0.32777	T	0.123119649304905	0.14732	T	0.945205	0.79148	D	0.20698465	0.42890	0.144906	0.34387	0.20698465	0.42890	0.144906	0.34386	-6.4	0.49509	T	0.19707651206488025	0.26052	0.207	0.43666	B	.;.;.;.;.;.	.;.;.;.;.;.	4.280801	0.65203	24.8	0.99756916455641631	0.84694	0.97931	0.78218	D	AEFBI	0.805554	0.73011	D	0.554458165547455	0.70355	5.489226	0.606948454231074	0.75442	6.311505	0.999999999882753	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.64	5.64	0.86480	5.098000	0.64382	7.711000	0.66806	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.672	0.91474	763	0.50172	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	878.98	33	chr4	108889244	.	C	G	878.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=749;ExcessHet=0.0000;FS=4.642;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=-1.220e+00;SOR=1.352	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1105	20	0	1	0
chr4	109660210	109660210	A	G	exonic	MCUB	.	nonsynonymous SNV	MCUB:NM_017918:exon3:c.A191G:p.Y64C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.000	U	1.000	D	1.885	L	0.7	T	-0.554	T	0.268	T	0.922	3.582	18.25	5.28	1.996	5.816	15.217	0.581	0.0234963862855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.212e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000022	0.55875	U	0.000000	0.999983	0.54805	D	2.98	0.85499	M	0.7	0.51474	T	-7.29	0.94457	D	0.932	0.93723	-0.5540	0.66634	T	0.268	0.63960	T	10	0.96422625	0.95876	D	0.023496	0.46463	T	0.581	0.83137	0.902	0.97858	0.740646738012	0.73832	0.7531181133638718	0.75258	0.503899149776	0.48693	0.678067326546	0.63991	T	0.150207	0.48957	T	0.311575	0.83864	D	0.20978	0.83653	D	0.998927772045135	0.95599	D	0.90141	0.65732	D	0.7741031	0.82294	0.6932214	0.81942	0.7741031	0.82296	0.6932214	0.81943	-7.047	0.54376	T	.	.	0.108	0.20391	B	.	.	4.442489	0.68981	25.3	0.99735133230615836	0.83047	0.97634	0.76048	D	AEFBI	0.652235	0.62570	D	0.574643804236024	0.71594	5.674811	0.517679024185223	0.69179	5.323774	0.994983117754374	0.33894	0.732398	0.92422	0	0.709663	0.81188	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.28	5.28	0.74118	5.941000	0.69909	8.971000	0.78474	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	15.217	0.72964	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1094.98	43	chr4	109660210	.	A	G	1094.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.82;DP=817;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.41;ReadPosRankSum=0.120;SOR=0.786	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1129	20	0	1	0
chr4	109684611	109684611	A	G	exonic	MCUB	.	nonsynonymous SNV	MCUB:NM_017918:exon6:c.A781G:p.M261V,	.	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.859	P	0.609	P	0.000	N	0.999	D	2.335	M	1.43	T	-1.062	T	0.065	T	0.387	3.284	17.03	4.4	0.945	4.229	11.184	0.103	0.0106443592674	0.0012	0.00159744	0.0009	0.0006	0.0013	0	0	0.0010	0	0.0008	0.0008279	128	154602	rs79405119	0.0008	0.0008	0.0007	0.0008	0.0018	0.0007	0.0007	0.0010	0.0008	0.0007	0.0011	0.0005	0	0.0001	0.0018	0.0008	0.0010	0.0008	0.0008	0.0008	0.0007	0.0008	0.0018	0.0006	0.0006	0.0012	0.0011	0.0005	0	0.0018	0.0014	0.0002	0	0	0.0008	0.0009	0.0008	0.005	0.63226	D	0.072	0.43344	T	0.859	0.47319	P	0.609	0.51053	P	0.000019	0.62929	N	0.187833	0.998717	0.45323	D	2.19	0.61577	M	1.43	0.32958	T	-3.11	0.63669	D	0.347	0.38848	-1.0618	0.11312	T	0.065	0.27017	T	10	0.011704028	0.00255	T	0.010644	0.27409	T	0.103	0.29403	.	.	0.455173453901	0.45141	0.7485670205813343	0.74802	0.118582671518	0.13357	0.423137962818	0.28268	T	0.022555	0.17371	T	-0.37082	0.03553	T	-0.355874	0.38531	T	0.0402197153895296	0.03731	T	0.680032	0.28847	T	0.4717879	0.65400	0.48925057	0.70447	0.4717879	0.65400	0.48925057	0.70448	-9.16	0.68721	D	.	.	0.111	0.21503	B	.	.	3.632068	0.51459	23.1	0.98747373813244066	0.45602	0.96388	0.68895	D	AEFBI	0.729070	0.67690	D	0.402176006907151	0.61542	4.356761	0.401422910756283	0.61652	4.368507	0.985384455933843	0.30878	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.57	4.4	0.52402	4.222000	0.58378	7.960000	0.76000	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.9283:0.0:0.0717:0.0	11.184	0.47871	906	0.23090	Calcium uniporter protein, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1180.98	36	chr4	109684611	.	A	G	1180.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=827;ExcessHet=0.0000;FS=3.276;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.34;ReadPosRankSum=0.787;SOR=1.183	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1195	20	0	1	0
chr4	109749528	109749528	G	A	exonic	CFI	.	stopgain	CFI:NM_001375283:exon7:c.C958T:p.R320X	Complement factor I deficiency, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	1309746	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	4.294	22.5	1.72	-0.005	1.490	15.293	.	.	.	.	2.472e-05	0	0	0	0	4.497e-05	0	0	1.94e-05	3	154602	rs762761680	1.711e-05	1.71e-05	4.086e-06	3.026e-05	9.277e-05	1.174e-05	9.93e-06	4.579e-05	3.273e-05	0	0	0	5.038e-05	0	0	1.35e-05	0	9.277e-05	1.315e-05	1.313e-05	1.286e-05	1.345e-05	0.0004	2.19e-06	8.2e-07	7.307e-05	3.035e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.924	0.92901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.460917	0.92965	D	0.65	0.98035	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive;.;.	.;.;High;.;.	7.131361	0.96178	35	0.99366729949989818	0.61240	0.86924	0.46316	D	AEFBI	0.307090	0.41406	N	0.185182148233765	0.50487	3.238278	-0.0951576283744062	0.35591	2.060857	0.00402280271521477	0.10385	0.638212	0.43195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.668105	0.65232	0	.	.	5.59	1.72	0.23498	1.535000	0.35667	3.447000	0.38420	0.595000	0.32841	0.998000	0.41325	1.000000	0.68203	0.004000	0.06068	0.0:0.0:0.3746:0.6254	15.293	0.73588	839	0.37672	.;Serine proteases, trypsin domain;Serine proteases, trypsin domain;.;Serine proteases, trypsin domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1399.98	52	chr4	109749528	.	G	A	1399.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.184;DP=820;ExcessHet=0.0000;FS=3.431;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-1.700e-02;SOR=0.750	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1502	20	0	1	0
chr4	109867776	109867776	T	C	exonic	LRIT3	.	nonsynonymous SNV	LRIT3:NM_198506:exon3:c.T725C:p.L242S,	Night blindness, congenital stationary (complete), 1F, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	943738	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.24	T	0.128	B	0.067	B	0.732	N	1.000	N	0.77	N	0.7	T	-0.974	T	0.102	T	0.08	1.161	9.724	-11.5	-1.870	-0.049	19.958	0.110	0.0429668487042	.	.	8.241e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs749730956	1.573e-05	1.573e-05	1.497e-05	1.65e-05	0.0009	1.048e-05	8.75e-06	0.0003	0.0002	0	2.236e-05	0	0	0	0.0009	1.529e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	0.11406	T	0.414	0.14369	T	.	.	.	.	.	.	0.731945	0.06375	N	1.132580	1	0.08975	N	1.46	0.36832	L	0.7	0.56937	T	-1.67	0.39887	N	0.218	0.24385	-0.9742	0.36301	T	0.102	0.37718	T	10	0.06643906	0.09113	T	0.042967	0.60739	D	0.110	0.31079	.	.	0.110078149338	0.10416	0.6324083173412606	0.63174	0.0596258916329	0.06628	0.286824285984	0.08462	T	0.009662	0.08780	T	-0.321632	0.06765	T	-0.616913	0.11429	T	0.0397407950480442	0.03644	T	0.566943	0.20077	T	0.06923224	0.15152	0.17727186	0.40318	0.06923224	0.15151	0.17727186	0.40318	-7.067	0.54522	T	.	.	0.090	0.17060	B	.;.	.;.	-0.725884	0.01262	0.066	0.76866286182804933	0.11641	0.08003	0.13983	N	AEFI	0.105443	0.21067	N	-1.51565343222763	0.01746	0.07646881	-1.64430755940914	0.01405	0.06353385	0.996098717036343	0.34520	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.88	-11.5	0.00057	-0.053000	0.11802	-4.860000	0.01953	-0.278000	0.06506	0.000000	0.06391	0.000000	0.08366	0.576000	0.30797	0.0:0.6251:0.0:0.3749	19.958	0.97233	801	0.44448	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1886.98	33	chr4	109867776	.	T	C	1886.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.585;DP=880;ExcessHet=0.0000;FS=2.872;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=1.22;SOR=0.970	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1231	20	0	1	0
chr4	109870407	109870407	G	T	exonic	LRIT3	.	nonsynonymous SNV	LRIT3:NM_198506:exon4:c.G1658T:p.C553F,	Night blindness, congenital stationary (complete), 1F, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	943742	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.35	M	1.61	T	-0.633	T	0.219	T	0.979	4.469	23.9	5.16	2.398	9.378	18.660	0.656	0.0814854432084	.	0.000199681	4.945e-05	0	0	0.0007	0	0	0	0	4.53e-05	7	154602	rs551139098	1.915e-05	1.915e-05	2.042e-05	1.788e-05	0.0007	1.328e-05	1.144e-05	0.0005	0.0004	0	0	0	0.0007	0	0	8.993e-07	1.656e-05	0	3.284e-05	3.281e-05	2.57e-05	4.03e-05	0.0010	1.26e-05	7.98e-06	0.0004	0.0002	0	0	0	0	0.0010	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	1.61	0.28391	T	-9.51	0.98460	D	0.811	0.83167	-0.6335	0.63422	T	0.219	0.58189	T	10	0.72051966	0.73631	D	0.081485	0.73691	D	0.656	0.87085	.	.	0.48896698758	0.48531	0.7950547003391227	0.79458	0.300025700996	0.32365	0.561561703682	0.47488	T	0.253365	0.62388	T	-0.002715	0.51281	T	0.14921	0.80133	D	0.98773604631424	0.78174	D	0.776522	0.41780	T	0.6983099	0.77964	0.66689056	0.80465	0.6983099	0.77966	0.66689056	0.80466	-16.731	0.98664	D	.	.	0.685	0.72360	P	.;.	.;.	5.155057	0.86359	28.9	0.9911974924637954	0.52958	0.99514	0.96941	D	AEFI	0.943365	0.94912	D	0.889006625753088	0.91210	10.76977	0.852937110123984	0.93187	11.87923	0.999999606249554	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.16	5.16	0.70563	9.503000	0.96975	11.678000	0.94186	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	18.660	0.91427	809	0.43032	Fibronectin type III;Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2124.98	46	chr4	109870407	.	G	T	2124.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.300e-02;DP=964;ExcessHet=0.0000;FS=1.267;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=-7.060e-01;SOR=0.572	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr4	109913381	109913381	A	C	exonic	EGF	.	nonsynonymous SNV	EGF:NM_001178130:exon1:c.A46C:p.S16R	Hypomagnesemia 4, renal	.	0	1518	4	0	0	4	0.00131579	.	.	296718	not_provided|Renal_hypomagnesemia_4	MedGen:C3661900|MONDO:MONDO:0012717,MedGen:C2673648,OMIM:611718,Orphanet:34527	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.958	D	0.483	P	0.924	N	1.000	N	1.95	M	-1.98	D	-0.332	T	0.392	T	0.388	2.162	13.18	-5.45	-0.941	0.384	4.644	0.403	.	0.0002	0.00499201	0.0040	0.0002	0	0.0262	0.0257	0.0012	0.0100	0	0.003454	534	154602	rs11568849	0.0018	0.0018	0.0019	0.0017	0.0277	0.0017	0.0017	0.0263	0.0258	0.0001	4.475e-05	0.0005	0.0277	0.0230	0.0003	0.0001	0.0016	8.115e-05	0.0032	0.0032	0.0020	0.0045	0.0257	0.0030	0.0029	0.0221	0.0208	0.0002	0	0.0001	0.0006	0.0257	0.0276	0	0.0007	0.0019	0.0002	0.015	0.55530	D	0.061	0.45530	T	0.958	0.54977	D	0.483	0.47159	P	0.923541	0.07491	N	1.031290	1	0.08975	N	2.125	0.59049	M	-2.4	0.88455	D	-1.94	0.45222	N	0.234	0.42247	-0.3315	0.74090	T	0.392	0.74546	T	10	0.0047091246	0.00099	T	.	.	.	0.403	0.71636	0.571	0.69431	0.864559840526	0.86324	0.4843813884689565	0.48358	0.584107567837	0.54097	0.29645305872	0.09874	T	0.48488	0.81201	T	-0.325441	0.06462	T	-0.219978	0.52739	T	0.0177113371884191	0.00502	T	0.785921	0.42389	T	0.12246675	0.28777	0.09459789	0.22398	0.1449291	0.33244	0.07587441	0.16747	-5.066	0.37548	T	.	.	0.426	0.62212	A	.;.;.	.;.;.	0.573167	0.09416	6.196	0.92642156612491477	0.22116	0.10276	0.15827	N	AEFDBCIJ	0.103925	0.20808	N	-0.81727621626747	0.12868	0.6301164	-1.0591138308805	0.08517	0.4191907	0.999998456995477	0.74766	0.497415	0.19182	0	0.491513	0.07743	0	0.654281	0.52657	0	0.542086	0.14980	0	.	.	5.09	-5.45	0.02411	0.423000	0.21032	0.351000	0.17477	-0.103000	0.15852	0.000000	0.06391	0.004000	0.18990	0.025000	0.12405	0.3045:0.0:0.3513:0.3442	4.644	0.11949	881	0.29269	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	903.98	35	chr4	109913381	.	A	C	903.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.240e+00;DP=795;ExcessHet=0.0000;FS=2.826;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.27;ReadPosRankSum=0.603;SOR=0.686	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1173	20	0	1	0
chr4	109999721	109999721	C	A	exonic	EGF	.	nonsynonymous SNV	EGF:NM_001357021:exon18:c.C2679A:p.D893E	Hypomagnesemia 4, renal	.	.	.	.	.	.	.	.	.	.	2119501	not_provided|EGF-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.886	P	0.449	P	0.000	N	0.999	D	1.905	M	2.81	T	-1.125	T	0.032	T	0.15	2.832	15.43	3.12	0.524	0.962	5.868	0.112	0.00398943144332	.	0.000599042	0.0003	0	0	0	0	1.498e-05	0	0.0021	0.0002652	41	154602	rs564898318	0.0001	0.0001	6.125e-05	0.0002	0.0017	9.603e-05	9.082e-05	0.0015	0.0014	0	0	0	5.038e-05	0	0	3.597e-06	9.934e-05	0.0017	5.914e-05	5.906e-05	3.857e-05	8.063e-05	0.0015	3.077e-05	2.21e-05	0.0007	0.0005	0	0	0	0	0	0	0	2.941e-05	0	0.0015	0.04	0.42487	D	0.004	0.92824	D	0.886	0.48745	P	0.449	0.46066	P	0.000000	0.84330	N	0.048442	0.999032	0.45921	D	1.78	0.46185	L	2.81	0.10975	T	-2.5	0.54382	D	0.142	0.14196	-1.1252	0.02026	T	0.032	0.13854	T	10	0.016393512	0.00345	T	0.003989	0.09462	T	0.112	0.31546	0.553	0.66995	0.682504492806	0.67979	0.9294380043589731	0.92921	0.301124267467	0.32458	0.371694982052	0.21075	T	0.653294	0.89506	D	-0.571362	0.00217	T	-0.599665	0.12839	T	0.121959302554955	0.14620	T	0.761424	0.38756	T	0.5810959	0.71668	0.24258804	0.49683	0.5810959	0.71669	0.24258804	0.49682	-10.761	0.78331	D	.	.	0.465	0.62960	A	.;.;.	.;.;.	1.654739	0.21106	15.05	0.99073967876220703	0.51786	0.45557	0.27565	N	AEFBCI	0.100585	0.20221	N	-0.100432955930145	0.37373	2.173456	-0.170975860288847	0.32610	1.856978	0.965591990491341	0.28842	0.554377	0.28877	0	0.491513	0.07743	0	0.602189	0.34648	0	0.567339	0.31927	0	.	.	4.93	3.12	0.34986	0.830000	0.27115	0.718000	0.20989	0.599000	0.40250	0.366000	0.25891	0.167000	0.23311	0.994000	0.71098	0.2187:0.6828:0.0:0.0985	5.868	0.18037	881	0.29269	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	798.98	34	chr4	109999721	.	C	A	798.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.100e-02;DP=757;ExcessHet=0.0000;FS=0.891;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=6.000e-03;SOR=0.811	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1160	20	0	1	0
chr4	110542868	110542868	C	T	exonic	ENPEP	.	nonsynonymous SNV	ENPEP:NM_001379611:exon12:c.C1925T:p.A642V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.022	B	0.014	B	0.205	N	1.000	N	0.995	L	3.24	T	-0.970	T	0.013	T	0.099	1.047	9.274	-5.51	-0.881	-0.442	0.690	0.043	0.00486380669583	.	.	6.619e-05	0	8.732e-05	0	0	3.004e-05	0	0.0003	5.17e-05	8	154602	rs778486245	2.396e-05	2.394e-05	1.907e-05	2.89e-05	0.0003	1.74e-05	1.54e-05	0.0002	0.0002	0	6.718e-05	0	0	1.873e-05	0	7.198e-06	0	0.0003	6.575e-06	6.567e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.282	0.15406	T	0.279	0.21745	T	0.022	0.18677	B	0.014	0.16862	B	0.205433	0.03349	N	1.460060	1	0.08975	N	0.955	0.23872	L	3.24	0.06845	T	-0.66	0.19085	N	0.178	0.19190	-0.9702	0.37157	T	0.013	0.05177	T	10	0.08621544	0.14634	T	0.004864	0.12192	T	0.043	0.11576	0.544	0.65731	0.0551355673512	0.04727	0.3043719481494112	0.30350	0.113425222859	0.12803	0.27333983779	0.06580	T	0.071236	0.34157	T	-0.581699	0.00188	T	-0.777155	0.02540	T	0.0229719098896361	0.01020	T	0.154585	0.01346	T	0.09887266	0.23325	0.05674032	0.10190	0.09887266	0.23325	0.05674032	0.10189	-5.564	0.42462	T	.	.	0.082	0.08657	B	.	.	-0.596327	0.01582	0.106	0.81848729841552226	0.13891	0.02065	0.06157	N	AEFI	0.069521	0.13765	N	-1.57618066651451	0.01388	0.06049268	-1.63523440634907	0.01454	0.06577495	0.999789195504703	0.43007	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.633917	0.49826	0	.	.	5.52	-5.51	0.02366	-0.307000	0.08206	-1.881000	0.04560	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2373:0.2006:0.3046:0.2575	0.690	0.00833	840	0.37365	ERAP1-like C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1304.98	42	chr4	110542868	.	C	T	1304.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=823;ExcessHet=0.0000;FS=5.620;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.36;ReadPosRankSum=-1.631e+00;SOR=1.197	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1168	20	0	1	0
chr4	110618572	110618574	GTC	-	exonic	PITX2	.	nonframeshift deletion	PITX2:NM_000325:exon3:c.526_528del:p.D176del	Anterior segment dysgenesis 4, Autosomal dominant;Axenfeld-Rieger syndrome, type 1, Autosomal dominant;Ring dermoid of cornea, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1406823176	1.37e-06	1.368e-06	1.362e-06	1.377e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	6.576e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2347.94	36	chr4	110618571	.	TGTC	T	2347.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.700e-02;DP=839;ExcessHet=0.0000;FS=2.306;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.52;ReadPosRankSum=1.35;SOR=0.937	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1031	20	0	1	0
chr4	112265042	112265042	C	T	exonic	AP1AR	.	nonsynonymous SNV	AP1AR:NM_001128426:exon6:c.C316T:p.P106S	.	.	438	1070	14	0	0	14	0.00649954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.01	B	0.033	B	0.002	N	1.000	N	1.245	L	1.03	T	-1.028	T	0.054	T	0.094	1.480	10.89	3.31	0.407	0.496	7.785	0.065	.	0.0059	0.00239617	0.0062	0.0011	0.0035	0	0.0104	0.0089	0.0044	0.0019	0.0060737	939	154602	rs116585845	0.0072	0.0073	0.0073	0.0070	0.0083	0.0070	0.0070	0.0081	0.0081	0.0012	0.0029	0.0022	0	0.0077	0.0070	0.0083	0.0064	0.0023	0.0053	0.0053	0.0055	0.0050	0.0087	0.0050	0.0049	0.0081	0.0079	0.0017	0	0.0024	0.0009	0	0.0088	0	0.0087	0.0038	0.0012	0.565	0.16574	T	0.061	0.45530	T	0.01	0.15535	B	0.017	0.22329	B	0.001918	0.37691	N	0.248358	1	0.08975	N	.	.	.	1.01	0.41058	T	-1.09	0.32991	N	0.086	0.14905	-1.0279	0.21136	T	0.054	0.22808	T	10	0.0026318133	0.00040	T	.	.	.	0.065	0.18881	.	.	0.187035705434	0.18338	0.06650656370192728	0.06588	0.370222164933	0.38549	0.234661504626	0.02330	T	0.059302	0.31079	T	-0.598193	0.00150	T	-0.624933	0.10801	T	0.0049647755144774	0.00053	T	0.69563	0.34774	T	0.042428195	0.06434	0.040625643	0.04433	0.042428195	0.06433	0.040625643	0.04432	-1.739	0.02566	T	.	.	0.072	0.04356	B	.;.	.;.	1.390817	0.18038	13.51	0.94894397029463051	0.25739	0.20612	0.21105	N	AEFBI	0.071261	0.14179	N	-0.700667595112341	0.16003	0.8115374	-0.643502138256319	0.18380	0.9816589	0.812912584671656	0.24387	0.732398	0.92422	0	0.633656	0.55848	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.99	3.31	0.37025	0.527000	0.22695	2.314000	0.32094	0.599000	0.40250	0.000000	0.06391	0.015000	0.20450	0.942000	0.48361	0.0:0.6146:0.2471:0.1383	7.785	0.28249	953	0.10115	.;.	AP1AR|AP1AR|AP1AR|AP1AR|AP1AR|AP1AR|AP1AR	Artery_Tibial|Cells_Cultured_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1620.98	38	chr4	112265042	.	C	T	1620.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.64;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.05;ReadPosRankSum=0.099;SOR=0.704	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1152	20	0	1	0
chr4	112278361	112278361	G	A	exonic	TIFA	.	nonsynonymous SNV	TIFA:NM_052864:exon2:c.C56T:p.T19M,	.	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.992	D	0.000	D	0.999	D	2.215	M	0.81	T	-0.671	T	0.145	T	0.356	4.121	21.2	5.92	2.822	3.253	20.334	0.211	.	0.0108	0.0113818	0.0032	0.0337	0.0019	0.0001	0	0.0003	0	0.0002	0.0030077	465	154602	rs6834237	0.0010	0.0010	0.0011	0.0009	0.0313	0.0009	0.0009	0.0297	0.0291	0.0313	0.0022	0	2.523e-05	0	0.0051	8.672e-05	0.0026	7.098e-05	0.0094	0.0094	0.0098	0.0090	0.0322	0.0090	0.0088	0.0307	0.0302	0.0322	0	0.0033	0	0.0002	0	0.0034	0.0003	0.0100	0.0002	0.011	0.55530	D	0.006	0.70582	D	1.0	0.90584	D	0.992	0.80445	D	0.000001	0.62929	D	0.097241	0.999431	0.47043	D	2.75	0.80375	M	0.81	0.48460	T	-3.21	0.64826	D	0.229	0.29889	-0.6714	0.61765	T	0.145	0.46786	T	10	0.0067516863	0.00153	T	.	.	.	0.211	0.50185	.	.	0.724680275035	0.72224	0.6335347604182903	0.63287	1.18544460508	0.80128	0.505062520504	0.39533	T	0.197802	0.55458	T	-0.400934	0.02283	T	-0.324316	0.42100	T	0.0295651626667107	0.01922	T	0.835117	0.50455	T	0.23997004	0.46894	0.1895631	0.42310	0.23997004	0.46894	0.1895631	0.42310	-5.982	0.46129	T	.	.	0.107	0.20235	B	.;.	.;.	4.601672	0.72891	25.9	0.99913413061629464	0.98238	0.89611	0.50186	D	AEFDGBCI	0.418177	0.48591	N	0.7543497403034	0.83187	7.952312	0.740233992652113	0.85425	8.57691	0.999999999573468	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	3.947000	0.56362	7.406000	0.58608	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:1.0:0.0	20.334	0.98733	939	0.14249	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	708.98	35	chr4	112278361	.	G	A	708.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.575;DP=827;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.28;ReadPosRankSum=-2.790e-01;SOR=0.728	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1203	20	0	1	0
chr4	112382406	112382406	C	G	exonic	ALPK1	.	nonsynonymous SNV	ALPK1:NM_001102406:exon4:c.C130G:p.P44A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.901	P	0.475	P	0.001	N	1.000	D	2.14	M	1.41	T	-0.989	T	0.103	T	0.489	2.088	12.94	3.89	0.708	1.838	12.435	0.128	0.0194258024851	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.184	0.29056	T	0.717	0.42239	P	0.18	0.35854	B	0.001351	0.39310	N	0.249457	0.983319	0.81001	D	1.845	0.48678	L	1.41	0.33412	T	-2.61	0.56144	D	0.44	0.48689	-0.9894	0.32753	T	0.103	0.37944	T	10	0.22064155	0.38766	T	0.019426	0.41790	T	0.128	0.35103	0.242	0.17524	0.374970422459	0.37104	.	.	0.241361599698	0.26659	0.454678177834	0.32583	T	0.158246	0.50119	T	-0.0751227	0.40504	T	-0.345685	0.39698	T	0.946207046508789	0.62421	D	0.846915	0.52723	T	0.18790884	0.40266	0.12896559	0.31018	0.18790884	0.40265	0.12896559	0.31017	-1.239	0.01307	T	0.6965863003661017	0.77501	0.168	0.36889	B	.;.	.;.	2.457496	0.31654	18.81	0.98519611846547295	0.42447	0.95345	0.64359	D	AEFBI	0.381249	0.46359	N	0.24523883490056	0.53404	3.509368	0.266211184757234	0.53577	3.525954	0.611986003912558	0.21812	0.638212	0.43195	0	0.653731	0.59785	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.63	3.89	0.44098	1.875000	0.39214	1.375000	0.25987	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.8658:0.0:0.1342	12.435	0.54929	849	0.35778	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1484.98	39	chr4	112382406	.	C	G	1484.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=972;ExcessHet=0.0000;FS=2.149;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.46;ReadPosRankSum=0.654;SOR=0.921	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,105,1575	20	0	1	0
chr4	112382476	112382476	A	G	exonic	ALPK1	.	nonsynonymous SNV	ALPK1:NM_001102406:exon4:c.A200G:p.Q67R	.	.	424	1084	14	0	0	14	0.00641613	.	.	698340	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	2.38	M	1.76	T	-0.807	T	0.135	T	0.931	4.491	24.1	5.63	2.130	8.406	15.839	0.408	.	0.0065	0.00439297	0.0053	0.0014	0.0029	0	0.0020	0.0067	0.0077	0.0076	0.0053363	825	154602	rs33943680	0.0081	0.0081	0.0082	0.0080	0.0090	0.0080	0.0079	0.0089	0.0088	0.0011	0.0034	0.0082	0	0.0020	0.0038	0.0090	0.0089	0.0086	0.0052	0.0052	0.0057	0.0047	0.0081	0.0049	0.0048	0.0076	0.0073	0.0014	0	0.0044	0.0138	0.0002	0.0019	0	0.0081	0.0024	0.0081	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999899	0.81001	D	2.215	0.62545	M	1.76	0.25996	T	-1.53	0.37178	N	0.779	0.78641	-0.8075	0.54701	T	0.135	0.44991	T	10	0.010697663	0.00237	T	.	.	.	0.408	0.72022	.	.	0.455816718377	0.45207	.	.	0.48814725497	0.47630	0.632347464561	0.57478	T	0.148086	0.48647	T	-0.0732763	0.40801	T	0.12879	0.78812	D	0.0201152932207112	0.00712	T	0.880912	0.59977	D	0.9132768	0.92602	0.7321437	0.84171	0.901852	0.91550	0.7321437	0.84172	-2.915	0.09294	T	0.8506680338392812	0.91690	0.683	0.72557	P	.;.	.;.	4.290327	0.65424	24.8	0.99840825432422586	0.92143	0.98172	0.80226	D	AEFBI	0.906729	0.85987	D	0.844450735495492	0.88791	9.712662	0.819938707806375	0.91143	10.74026	0.999998906393931	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.624306	0.44879	0	0.620846	0.47308	0	.	.	5.63	5.63	0.86108	8.399000	0.90081	9.173000	0.79043	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.839	0.78608	849	0.35778	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2228.98	39	chr4	112382476	.	A	G	2228.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.487e+00;DP=958;ExcessHet=0.0000;FS=1.302;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.76;ReadPosRankSum=-9.670e-01;SOR=0.838	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,105,1575	20	0	1	0
chr4	112438645	112438645	T	C	exonic	ALPK1	.	nonsynonymous SNV	ALPK1:NM_001253884:exon12:c.T3116C:p.L1039P	.	.	432	1083	5	2	0	9	0.00413793	0.8979	0.82	709131	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	1.53	L	2.36	T	-1.100	T	0.070	T	0.53	4.268	22.3	5.37	2.036	7.604	15.361	0.429	.	0.0088	0.00359425	0.0073	0.0021	0.0038	0	0.0119	0.0108	0.0033	0.0004	0.0074837	1157	154602	rs35756863	0.0100	0.0100	0.0103	0.0097	0.0119	0.0099	0.0098	0.0117	0.0116	0.0015	0.0043	0.0026	2.52e-05	0.0111	0.0024	0.0119	0.0079	0.0005	0.0076	0.0076	0.0081	0.0071	0.0118	0.0072	0.0071	0.0111	0.0108	0.0026	0.0242	0.0073	0.0014	0.0002	0.0082	0.0136	0.0118	0.0076	0.0008	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.000000	1	0.81001	D	2.81	0.81869	M	2.36	0.16089	T	-2.46	0.53736	N	0.967	0.98065	-1.0999	0.04103	T	0.070	0.28445	T	10	0.014673233	0.00308	T	.	.	.	0.429	0.73590	.	.	0.54351673446	0.54005	.	.	0.598181219092	0.54992	0.659662127495	0.61361	T	0.144918	0.48178	T	-0.363675	0.03926	T	-0.284139	0.46379	T	0.0152199683013924	0.00334	T	0.865513	0.56452	D	0.80445546	0.84192	0.8646585	0.92498	0.8653628	0.88499	0.8646585	0.92499	-15.323	0.96564	D	0.8576460359881409	0.92203	0.982	0.91469	P	.;.;.	.;.;.	5.219620	0.87595	29.3	0.99914917463294939	0.98309	0.98625	0.84843	D	AEFBI	0.971011	0.99317	D	0.655612135686672	0.76734	6.541156	0.648756628216427	0.78519	6.892431	0.999856749232754	0.44174	0.693126	0.56070	0	0.659464	0.62310	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.37	5.37	0.76949	7.584000	0.81862	7.477000	0.59216	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.361	0.74187	801	0.44448	.;MHCK/EF2 kinase|MHCK/EF2 kinase|MHCK/EF2 kinase;MHCK/EF2 kinase|MHCK/EF2 kinase|MHCK/EF2 kinase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1462.98	40	chr4	112438645	.	T	C	1462.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.970e-01;DP=1075;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=-1.110e-01;SOR=0.710	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	20	0	1	0
chr4	112587428	112587428	T	C	exonic	ZGRF1	.	nonsynonymous SNV	ZGRF1:NM_001350397:exon11:c.A3455G:p.Y1152C	.	.	429	1086	7	0	0	7	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.004	B	0.002	B	0.276	N	1.000	N	0.55	N	-1.58	D	-0.844	T	0.326	T	0.149	1.217	9.939	0.458	-0.120	-0.508	5.205	0.220	0.0275272883703	0.0008	0.000599042	0.0005	0.0009	0	0	0	0.0005	0	0.0010	0.0004463	69	154602	rs113454162	0.0004	0.0004	0.0004	0.0005	0.0132	0.0004	0.0004	0.0108	0.0099	0.0017	0.0003	0.0002	0	0	0.0132	0.0003	0.0008	0.0014	0.0005	0.0005	0.0005	0.0004	0.0014	0.0004	0.0003	0.0007	0.0005	0.0007	0	0.0003	0.0003	0	0	0.0102	0.0003	0.0014	0.0014	0.202	0.20230	T	0.184	0.29056	T	.	.	.	.	.	.	0.276403	0.03804	N	1.579890	1	0.08975	N	1.04	0.26193	L	-1.58	0.81987	D	-1.8	0.42384	N	0.158	0.16447	-0.8436	0.52406	T	0.326	0.69444	T	10	0.0081373155	0.00185	T	0.027527	0.50329	D	0.220	0.51569	.	.	0.235664433957	0.23186	0.04063770300467171	0.04008	0.0852435337803	0.09637	.	.	.	0.021849	0.16945	T	-0.409487	0.02003	T	-0.396354	0.33810	T	0.00230126592471505	0.00024	T	0.525248	0.17252	T	0.06310179	0.13250	0.08280405	0.18928	0.06310179	0.13249	0.08280405	0.18928	-3.079	0.11056	T	.	.	0.064	0.02173	B	.;.	.;.	0.932100	0.13072	9.577	0.938225337158623	0.23804	0.01307	0.04533	N	AEFDBI	0.051349	0.09062	N	-0.89567901842934	0.10945	0.5255962	-0.853759088420445	0.13198	0.68332	0.0379007458933801	0.14320	0.706298	0.61202	0	0.601575	0.49859	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.59	0.458	0.15882	-0.498000	0.06502	-1.510000	0.05277	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.1517:0.4382:0.0:0.4101	5.205	0.14610	866	0.32446	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1253.98	34	chr4	112587428	.	T	C	1253.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.100e-02;DP=825;ExcessHet=0.0000;FS=2.432;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=0.562;SOR=0.950	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1129	20	0	1	0
chr4	112587447	112587447	T	G	exonic	ZGRF1	.	nonsynonymous SNV	ZGRF1:NM_001350397:exon11:c.A3436C:p.M1146L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.023	B	0.009	B	0.471	N	1.000	N	0.975	L	-1.59	D	-0.683	T	0.371	T	0.198	2.296	13.63	5.59	2.128	1.481	8.140	0.168	0.0342918704817	.	.	8.239e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs752061178	1.71e-05	1.71e-05	2.042e-05	1.375e-05	0.0004	1.174e-05	9.92e-06	0.0003	0.0002	0.0004	0	0	0	0	0.0003	0	0.0001	1.159e-05	1.314e-05	1.313e-05	1.285e-05	1.344e-05	4.825e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.825e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.092	0.39954	T	.	.	.	.	.	.	0.470601	0.12283	N	0.749331	1	0.08975	N	2.125	0.59049	M	-1.59	0.82076	D	-1.04	0.27259	N	0.299	0.33796	-0.6833	0.61220	T	0.371	0.73053	T	10	0.11739528	0.22170	T	0.034292	0.55573	D	0.168	0.42943	0.295	0.25881	0.432266382184	0.42845	0.055242146702664884	0.05465	0.0684681097478	0.07664	.	.	.	0.026508	0.19600	T	-0.101308	0.36209	T	-0.286444	0.46141	T	0.571868538856506	0.35306	D	0.576042	0.20701	T	0.3186381	0.54525	0.2687608	0.52748	0.3186381	0.54525	0.2687608	0.52747	-2.845	0.08605	T	.	.	0.146	0.44267	B	.;.	.;.	1.845379	0.23444	16.02	0.95690960615839915	0.27567	0.32660	0.24640	N	AEFDBI	0.078600	0.15862	N	-0.317052230803037	0.28500	1.572507	-0.17946046974295	0.32292	1.835767	0.781491384872651	0.23851	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.59	5.59	0.84677	1.484000	0.35116	0.340000	0.17371	0.609000	0.47794	0.548000	0.27330	0.046000	0.21717	0.979000	0.57723	0.1327:0.0:0.1386:0.7287	8.140	0.30236	866	0.32446	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1852.98	34	chr4	112587447	.	T	G	1852.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.63;DP=862;ExcessHet=0.0000;FS=0.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=-1.336e+00;SOR=0.789	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1129	20	0	1	0
chr4	112657309	112657309	A	T	exonic	LARP7	.	nonsynonymous SNV	LARP7:NM_001370974:exon13:c.A1770T:p.R590S	Alazami syndrome, Autosomal recessive	.	146	1375	1	0	0	1	0.000363504	.	.	1896016	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.969	D	0.691	P	0.000	D	1.000	D	0.805	L	1.95	T	-1.016	T	0.035	T	0.783	3.983	20.4	-5.05	-0.411	-0.042	3.581	0.263	0.00958926074955	7.7e-05	0.000199681	0.0001	0	0	0	0	0	0	0.0009	9.7e-05	15	154602	rs374867509	6.019e-05	6.296e-05	2.924e-05	9.148e-05	0.0008	4.989e-05	4.6e-05	0.0007	0.0006	0	0	0	0	0	0	1.374e-05	5.078e-05	0.0008	4.616e-05	4.6e-05	1.288e-05	8.103e-05	0.0010	2.116e-05	1.531e-05	0.0004	0.0003	4.84e-05	0	0	0	0	0	0	0	0	0.0010	0.004	0.65419	D	0.013	0.63109	D	0.969	0.56768	D	0.691	0.53831	P	0.000000	0.84330	D	0.000000	0.999954	0.52396	D	0.805	0.20218	L	1.95	0.22678	T	-2.58	0.55662	D	0.605	0.62781	-1.0156	0.25143	T	0.035	0.15247	T	10	0.07439554	0.11365	T	0.009589	0.25085	T	0.263	0.57612	0.37	0.38013	0.344251166708	0.34027	0.5117142340689719	0.51093	0.309992911721	0.33310	0.552654027939	0.46231	T	.	.	.	-0.259369	0.12973	T	-0.224603	0.52293	T	0.318342119455338	0.25754	T	0.847515	0.52873	T	0.4683241	0.65188	0.2511518	0.50721	0.43413705	0.63023	0.20444964	0.44569	-7.725	0.59181	D	0.5057288860391432	0.58023	0.748	0.76179	P	.;.;.	.;.;.	3.046352	0.40863	21.2	0.99129562604261667	0.53222	0.59687	0.30984	D	AEFBI	0.118915	0.23232	N	-0.38620518094572	0.25960	1.413178	-0.480764548168716	0.22684	1.233316	0.23533555404089	0.18512	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.42	-5.05	0.02733	0.032000	0.13620	-0.203000	0.10926	-0.065000	0.16512	0.726000	0.28882	0.002000	0.18203	0.990000	0.65344	0.3755:0.1618:0.3701:0.0925	3.581	0.07502	772	0.48957	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	575.98	33	chr4	112657309	.	A	T	575.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.130e-01;DP=792;ExcessHet=0.0000;FS=0.979;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.29;ReadPosRankSum=0.392;SOR=0.892	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,101,978	20	0	1	0
chr4	113353453	113353453	C	T	exonic	ANK2	.	nonsynonymous SNV	ANK2:NM_001148:exon38:c.C4835T:p.T1612I,	Cardiac arrhythmia, ankyrin-B-related, Autosomal dominant;Long QT syndrome 4, Autosomal dominant	.	0	1518	4	0	0	4	0.00131579	.	.	188391	Cardiac_arrhythmia,_ankyrin-B-related|not_specified|not_provided|Long_QT_syndrome	MONDO:MONDO:0010958,MedGen:C1970119,OMIM:600919,Orphanet:101016,Orphanet:768|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.2	T	0.261	B	0.029	B	0.916	N	1.000	N	0.895	L	0.01	T	-0.997	T	0.152	T	0.165	0.032	4.179	1.51	0.192	0.806	5.334	0.052	0.00853604784637	.	.	3.313e-05	0	0	0	0	6.022e-05	0	0	2.59e-05	4	154602	rs765274871	3.215e-05	3.215e-05	2.723e-05	3.713e-05	0.0045	2.478e-05	2.221e-05	0.0032	0.0027	0	0	0	0	0	0.0045	1.349e-05	9.935e-05	0	3.942e-05	3.937e-05	0	8.062e-05	0.0001	1.715e-05	1.129e-05	2.261e-05	9.07e-06	2.408e-05	0	0.0001	0	0	0	0	2.941e-05	0.0005	0	0.126	0.28646	T	0.224	0.26306	T	.	.	.	.	.	.	0.916476	0.08517	N	0.957023	1	0.08975	N	1.905	0.50856	L	0.01	0.67011	T	-1.41	0.40082	N	0.045	0.01740	-0.9971	0.30728	T	0.152	0.48084	T	10	0.07478729	0.11477	T	0.008536	0.22581	T	0.052	0.14661	.	.	0.371749281113	0.36790	0.22980360053611187	0.22895	0.0841933520624	0.09501	0.286879897118	0.08470	T	0.292698	0.66542	T	-0.267531	0.12033	T	-0.44177	0.28610	T	0.0188347601722691	0.00594	T	0.680232	0.30012	T	0.1392568	0.32175	0.09019861	0.21137	0.1392568	0.32174	0.09019861	0.21137	-3.74	0.19910	T	0.13059851143727447	0.13753	0.106	0.19559	B	.;.;.;.	.;.;.;.	1.110219	0.14954	11.47	0.9309487935157662	0.22720	0.30326	0.24053	N	AEFBI	0.264846	0.38210	N	-0.734172762471051	0.15066	0.7560341	-0.731596293770594	0.16175	0.854443	0.993234356860721	0.33136	0.57788	0.32782	0	0.593476	0.48661	0	0.670488	0.60580	0	0.542086	0.14980	0	.	.	5.4	1.51	0.22094	0.917000	0.28286	0.851000	0.22138	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.962000	0.52141	0.3622:0.4543:0.1172:0.0663	5.334	0.15255	648	0.63242	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1646.98	34	chr4	113353453	.	C	T	1646.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.170e-01;DP=957;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=2.40;SOR=0.664	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1031	20	0	1	0
chr4	113353858	113353858	C	G	exonic	ANK2	.	nonsynonymous SNV	ANK2:NM_001148:exon38:c.C5240G:p.P1747R,	Cardiac arrhythmia, ankyrin-B-related, Autosomal dominant;Long QT syndrome 4, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	258341	not_provided|Cardiovascular_phenotype|Cardiac_arrhythmia,_ankyrin-B-related|Long_QT_syndrome|not_specified	MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0010958,MedGen:C1970119,OMIM:600919,Orphanet:101016,Orphanet:768|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.878	P	0.424	B	0.039	N	0.918	N	1.87	L	-0.23	T	-0.615	T	0.264	T	0.239	1.322	10.33	5.7	2.683	1.322	12.634	0.140	0.0215633166082	.	0.000199681	0.0002	0	0.0020	0	0	7.558e-05	0.0011	6.081e-05	0.0002005	31	154602	rs200628845	0.0001	0.0001	0.0001	0.0001	0.0017	9.335e-05	8.818e-05	0.0014	0.0013	0	0.0017	0.0007	0	0	0.0002	4.047e-05	0.0001	0.0001	0.0002	0.0002	0.0002	0.0002	0.0018	0.0001	0.0001	0.0012	0.0011	0	0	0.0018	0	0	0	0	2.94e-05	0.0005	0	0.006	0.61437	D	0.198	0.27767	T	.	.	.	.	.	.	0.039322	0.24182	N	0.348043	1	0.27360	N	1.905	0.50856	L	-0.23	0.66834	T	-2.32	0.51478	N	0.126	0.14480	-0.6151	0.64192	T	0.264	0.63534	T	9	0.010430962	0.00232	T	0.021563	0.44345	T	0.140	0.37593	.	.	0.462418993973	0.45867	0.05522447846544846	0.05463	0.184026296614	0.20700	0.302124679089	0.10718	T	0.38973	0.75008	T	-0.405801	0.02120	T	-0.380309	0.35687	T	0.0496480958751536	0.05439	T	0.852615	0.53799	D	0.10066825	0.23771	0.15748623	0.36822	0.10066825	0.23771	0.15748623	0.36822	-4.931	0.36082	T	0.6127210455026947	0.68044	0.16	0.35372	B	.;.	.;.	3.270452	0.44761	22.0	0.97928640310640747	0.36942	0.23166	0.21987	N	AEFBI	0.269277	0.38559	N	0.0039700780187214	0.42034	2.525247	-0.0184779111414744	0.38881	2.29712	0.999981308195428	0.51787	0.562547	0.31514	0	0.491513	0.07743	0	0.608884	0.39905	0	0.542086	0.14980	0	.	.	5.7	5.7	0.88690	1.043000	0.29926	6.000000	0.52472	0.599000	0.40250	0.000000	0.06391	0.821000	0.27127	0.980000	0.58198	0.1289:0.7466:0.1245:0.0	12.634	0.56035	648	0.63242	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2118.98	34	chr4	113353858	.	C	G	2118.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.090e-01;DP=961;ExcessHet=0.0000;FS=2.941;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=-8.900e-02;SOR=0.990	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1031	20	0	1	0
chr4	113365098	113365098	G	C	exonic	ANK2	.	nonsynonymous SNV	ANK2:NM_001354278:exon19:c.G2221C:p.E741Q	Cardiac arrhythmia, ankyrin-B-related, Autosomal dominant;Long QT syndrome 4, Autosomal dominant	.	1	1520	1	0	0	1	0.000328839	.	.	188400	Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin-B-related|Cardiovascular_phenotype|not_provided	MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MONDO:MONDO:0010958,MedGen:C1970119,OMIM:600919,Orphanet:101016,Orphanet:768|MedGen:CN230736|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.012	N	0.998	D	2.585	M	-1.96	D	-0.230	T	0.397	T	0.793	4.893	28.1	4.46	1.242	6.242	13.889	0.169	0.0647824733808	.	.	1.649e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs746987182	2.805e-05	2.805e-05	3.539e-05	2.063e-05	8.945e-05	2.087e-05	1.878e-05	2.985e-05	2.022e-05	0	8.945e-05	0	0	0	0	3.148e-05	3.312e-05	0	5.919e-05	5.911e-05	3.858e-05	8.076e-05	0.0001	3.08e-05	2.212e-05	4.766e-05	3.339e-05	0	0	6.551e-05	0	0	0	0	0.0001	0.0005	0	0.052	0.72154	T	0.142	0.70582	T	0.999	0.77913	D	0.998	0.88582	D	0.012406	0.29184	N	0.233665	0.997647	0.44063	D	2.66	0.77858	M	-1.96	0.85091	D	-0.61	0.58733	N	0.312	0.41754	-0.2301	0.76885	T	0.397	0.74923	T	10	0.56864035	0.65193	D	0.064782	0.69382	D	0.694	0.88913	0.386	0.40624	0.828232658422	0.82660	0.4294400424720736	0.42861	0.381822959478	0.39529	0.478410691023	0.35837	T	0.497164	0.96160	T	0.152096	0.69463	D	0.156546	0.80593	D	0.455002371823956	0.30981	T	0.908809	0.77964	D	0.41477168	0.61742	0.3254056	0.58456	0.41477168	0.61742	0.3254056	0.58455	-11.508	0.82372	D	0.16366731299911888	0.20181	0.268	0.52401	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.508166	0.70568	25.5	0.99783662158133613	0.87043	0.98373	0.82117	D	AEFBI	0.841014	0.75824	D	0.387982213936239	0.60770	4.269693	0.410425418929245	0.62213	4.433082	0.999970313135306	0.50053	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.3	4.46	0.53567	6.379000	0.73086	7.474000	0.59184	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0739:0.0:0.9261:0.0	13.889	0.63231	626	0.65439	.;.;Death domain|Death domain|Death domain;Death domain|Death domain|Death domain;Death domain|Death domain|Death domain;.;Death domain|Death domain|Death domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1466.98	33	chr4	113365098	.	G	C	1466.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=817;ExcessHet=0.0000;FS=1.381;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=1.27;SOR=0.544	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1379	20	0	1	0
chr4	113365126	113365126	G	T	exonic	ANK2	.	nonsynonymous SNV	ANK2:NM_001354278:exon19:c.G2249T:p.R750L	Cardiac arrhythmia, ankyrin-B-related, Autosomal dominant;Long QT syndrome 4, Autosomal dominant	.	1	1519	2	0	0	2	0.000657895	.	.	367810	Long_QT_syndrome|not_specified|ANK2-related_disorder|Cardiovascular_phenotype|not_provided	MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN169374|.|MedGen:CN230736|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.33	T	0.344	B	0.11	B	0.011	N	1.000	N	1.445	L	-3.05	D	-0.404	T	0.579	D	0.395	2.487	14.28	3.54	0.598	2.612	5.425	0.257	0.401575544266	.	0.000399361	0.0002	0	0	0	0	8.999e-05	0	0.0010	0.0001682	26	154602	rs556640912	9.988e-05	9.987e-05	6.262e-05	0.0001	0.0008	8.646e-05	8.134e-05	0.0006	0.0006	0	2.236e-05	0	0	0	0.0007	5.126e-05	0.0002	0.0008	5.259e-05	5.252e-05	5.145e-05	5.378e-05	0.0006	2.558e-05	1.831e-05	0.0002	9.025e-05	2.41e-05	0	0	0	0	0	0.0034	4.413e-05	0	0.0006	0.067	0.45756	T	0.32	0.41573	T	0.029	0.33532	B	0.068	0.31087	B	0.011438	0.29535	N	0.238980	0.999998	0.19238	N	2.215	0.62545	M	-3.05	0.92407	D	0.99	0.65512	N	0.221	0.73285	-0.4037	0.71911	T	0.579	0.84849	D	10	0.04315573	0.03135	T	0.401576	0.93409	D	0.257	0.56827	0.371	0.38176	0.837322791105	0.83577	0.3072072113509239	0.30633	0.101454333348	0.11481	0.285079956055	0.08211	T	0.417125	0.76987	T	-0.176717	0.24226	T	-0.0872165	0.64372	T	0.0536300245162474	0.06127	T	0.890411	0.62583	D	0.083070025	0.19166	0.08085652	0.18325	0.09092116	0.21290	0.08189752	0.18649	-2.674	0.24460	T	0.4928774191658802	0.56943	0.229	0.46109	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.890472	0.38275	20.7	0.99130752144940593	0.53249	0.77416	0.38061	D	AEFBI	0.390653	0.46940	N	-0.216510003835822	0.32457	1.830594	-0.0940333591062437	0.35635	2.064092	0.418669609232242	0.20273	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.3	3.54	0.39650	2.674000	0.46532	1.378000	0.26011	0.676000	0.76740	0.994000	0.38300	0.832000	0.27222	0.984000	0.60418	0.2047:0.0:0.6375:0.1577	5.425	0.15720	626	0.65439	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1227.98	33	chr4	113365126	.	G	T	1227.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.13;DP=834;ExcessHet=0.0000;FS=2.451;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.96;ReadPosRankSum=0.241;SOR=0.968	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1379	20	0	1	0
chr4	113902463	113902463	G	-	exonic	ARSJ	.	frameshift deletion	ARSJ:NM_001354210:exon2:c.1611delC:p.D539Tfs*119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1270.94	41	chr4	113902462	.	TG	T	1270.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=-7.810e-01;SOR=0.618	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1280	20	0	1	0
chr4	115076687	115076687	A	G	exonic	NDST4	.	nonsynonymous SNV	NDST4:NM_022569:exon2:c.T350C:p.I117T,	.	.	435	1086	0	1	0	2	0.000919963	.	.	2699708	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.233	B	0.266	B	0.000	D	1.000	D	0.41	N	1.22	T	-1.012	T	0.079	T	0.485	3.473	17.78	5.04	1.886	9.278	14.804	0.251	0.016738460781	.	.	9.917e-05	0	0	0	0	0	0	0.0007	7.76e-05	12	154602	rs778348193	3.9e-05	3.899e-05	1.089e-05	6.739e-05	0.0006	3.048e-05	2.783e-05	0.0005	0.0004	0	0	0	0	0	0	3.597e-06	0	0.0006	1.313e-05	1.312e-05	0	2.685e-05	0.0004	2.18e-06	8.2e-07	7.287e-05	3.028e-05	0	0	0	0	0	0	0	0	0	0.0004	0.032	0.44694	D	0.04	0.50809	D	0.233	0.30696	B	0.266	0.39732	B	0.000001	0.62929	D	0.093843	0.999996	0.58761	D	1.61	0.41143	L	1.22	0.37052	T	-1.93	0.44852	N	0.583	0.60410	-1.0119	0.26322	T	0.079	0.31254	T	10	0.21667084	0.38256	T	0.016738	0.38138	T	0.251	0.56024	0.467	0.53891	0.795487217394	0.79358	0.5660048022902222	0.56528	0.3353759794	0.35546	0.584713339806	0.50749	T	0.134638	0.46599	T	-0.309647	0.07778	T	-0.314971	0.43122	T	0.231518792299729	0.22024	T	0.958204	0.84269	D	0.26175338	0.49234	0.26219177	0.52007	0.26175338	0.49234	0.26219177	0.52006	-7.322	0.56352	T	.	.	0.448	0.62107	A	.	.	3.863018	0.56034	23.7	0.99792930225203069	0.87839	0.98910	0.88498	D	AEFI	0.917501	0.88521	D	0.146174661672104	0.48631	3.073009	0.308642277483094	0.56046	3.767601	0.999380354732521	0.39415	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.04	5.04	0.67293	9.264000	0.94788	11.037000	0.85129	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.804	0.69565	926	0.17793	Heparan sulphate-N-deacetylase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1609.98	35	chr4	115076687	.	A	G	1609.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.940e-01;DP=878;ExcessHet=0.0000;FS=3.130;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=0.574;SOR=0.528	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1095	20	0	1	0
chr4	117084757	117084757	A	C	exonic	TRAM1L1	.	nonsynonymous SNV	TRAM1L1:NM_152402:exon1:c.T637G:p.L213V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.977	D	0.951	D	0.000	D	0.834	D	2.41	M	-1.94	D	0.295	D	0.656	D	0.448	0.869	8.523	-5.02	-1.076	-0.091	11.384	0.478	0.0900372469944	.	.	4.944e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs753941185	2.941e-05	2.941e-05	1.361e-05	4.538e-05	0.0005	2.216e-05	1.97e-05	0.0003	0.0003	0	0	0	0	0	0	0	4.967e-05	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.46910	D	0.039	0.51112	D	0.977	0.58535	D	0.951	0.68939	D	0.000002	0.62929	D	0.000000	0.834429	0.34968	D	2.91	0.84121	M	-1.94	0.84919	D	-2.18	0.49187	N	0.439	0.47765	0.295	0.87476	D	0.656	0.88046	D	10	0.48046285	0.60399	T	0.090037	0.75442	D	0.478	0.76946	0.639	0.77579	0.633585262028	0.63058	0.12914456840242203	0.12839	0.876777066871	0.69606	0.433916509151	0.29745	T	0.495748	0.81834	T	-0.207659	0.19710	T	-0.219908	0.52745	T	0.661491274833679	0.38961	D	0.967253	0.88140	D	0.13906237	0.32138	0.1519059	0.35763	0.13906237	0.32138	0.1519059	0.35762	-7.239	0.55761	T	.	.	0.325	0.54854	B	.	.	1.951046	0.24781	16.52	0.97569212834111629	0.34670	0.09758	0.15441	N	AEFBCI	0.059458	0.11232	N	-0.739117081982676	0.14930	0.748025	-1.06778028820492	0.08341	0.409664	0.99988768476575	0.44867	0.487112	0.14033	0	0.573888	0.26702	0	0.507148	0.09336	0	0.651492	0.60203	0	.	.	3.88	-5.02	0.02759	-0.328000	0.07988	-1.270000	0.05855	-0.576000	0.04747	0.000000	0.06391	0.000000	0.08366	0.165000	0.20815	0.3058:0.0:0.6942:0.0	11.384	0.49015	958	0.09170	TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2272.98	35	chr4	117084757	.	A	C	2272.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.381e+00;DP=878;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.96;ReadPosRankSum=-2.260e-01;SOR=0.694	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1168	20	0	1	0
chr4	117084992	117084992	A	C	exonic	TRAM1L1	.	nonsynonymous SNV	TRAM1L1:NM_152402:exon1:c.T402G:p.I134M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.843	P	0.873	P	0.079	N	0.984	N	1.75	L	-2.06	D	-0.208	T	0.552	D	0.279	1.163	9.734	-6.19	-1.316	-0.772	7.006	0.385	0.0865422546552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.028	0.54934	D	0.843	0.46605	P	0.873	0.61978	P	0.078778	0.21024	N	0.526393	0.983664	0.24866	N	2.39	0.68882	M	-2.06	0.85875	D	-1.34	0.33401	N	0.312	0.35194	-0.2078	0.77471	T	0.552	0.83593	D	10	0.30985647	0.48469	T	0.086542	0.74757	D	0.385	0.70194	0.377	0.39156	0.541194085853	0.53772	0.1707560074829598	0.16995	0.599866105322	0.55088	0.345022648573	0.17186	T	0.417555	0.77017	T	-0.0399243	0.45961	T	-0.295125	0.45236	T	0.362650573253632	0.27513	T	0.787321	0.42620	T	0.13944669	0.32211	0.121666946	0.29353	0.13944669	0.32211	0.121666946	0.29353	-7.166	0.55237	T	.	.	0.084	0.09772	B	.	.	1.598618	0.20438	14.75	0.9568524711822417	0.27552	0.05261	0.11099	N	AEFDBCI	0.058693	0.11030	N	-0.964344624043748	0.09373	0.4433518	-1.25069369129323	0.05121	0.2432473	0.99999661129349	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.507148	0.09336	0	0.650387	0.60102	1	.	.	4.29	-6.19	0.01900	-0.495000	0.06524	-2.494000	0.03685	-0.651000	0.04387	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4983:0.35:0.1517:0.0	7.006	0.24014	958	0.09170	TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2190.98	35	chr4	117084992	.	A	C	2190.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.100e-02;DP=868;ExcessHet=0.0000;FS=2.665;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=-7.700e-02;SOR=0.879	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1168	20	0	1	0
chr4	118054114	118054114	G	A	exonic	NDST3	.	nonsynonymous SNV	NDST3:NM_004784:exon2:c.G204A:p.M68I,	.	.	427	1081	14	0	0	14	0.00643382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.039	B	0.014	B	0.820	N	1.000	N	0.55	N	1.35	T	-1.019	T	0.056	T	0.06	0.286	5.550	-0.893	-0.576	-0.329	5.668	0.030	0.00562235872519	0.0032	0.00159744	0.0033	0.0005	0.0032	0	0.0005	0.0049	0.0055	0.0014	0.0032406	501	154602	rs78812192	0.0034	0.0034	0.0035	0.0033	0.0045	0.0033	0.0033	0.0036	0.0036	0.0004	0.0029	0.0106	2.52e-05	0.0008	0.0045	0.0037	0.0036	0.0017	0.0025	0.0025	0.0023	0.0027	0.0052	0.0023	0.0022	0.0043	0.0039	0.0005	0	0.0052	0.0136	0	0.0004	0	0.0032	0.0014	0.0004	0.37	0.11550	T	0.526	0.10245	T	0.0	0.02946	B	0.0	0.01387	B	0.820185	0.09184	N	0.924715	1	0.08975	N	1.04	0.26193	L	1.35	0.34648	T	0.58	0.02598	N	0.088	0.06587	-1.0192	0.23975	T	0.056	0.23413	T	10	0.0044923723	0.00092	T	0.005622	0.14530	T	0.030	0.07022	0.348	0.34436	0.372446077551	0.36852	0.38611961801463934	0.38526	0.509347028412	0.49074	0.231498658657	0.02081	T	0.162128	0.50666	T	-0.66809	0.00056	T	-0.731626	0.04254	T	0.000752385890629979	0.00007	T	0.149285	0.01243	T	0.05689058	0.11252	0.061674606	0.11947	0.05689058	0.11252	0.061674606	0.11947	-3.47	0.16014	T	.	.	0.115	0.22933	B	.	.	0.136099	0.05307	1.800	0.88002510401254874	0.17643	0.04083	0.09542	N	AEFI	0.069767	0.13823	N	-0.967093789489084	0.09313	0.4402422	-0.941043674313456	0.11131	0.5652214	0.989493441080729	0.31844	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.478617	0.07155	0	.	.	5.53	-0.893	0.10031	-0.547000	0.06145	-1.319000	0.05727	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.989000	0.64315	0.4642:0.2501:0.2857:0.0	5.668	0.16979	952	0.10565	Heparan sulphate-N-deacetylase	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1506.98	34	chr4	118054114	.	G	A	1506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.860e-01;DP=868;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.66;ReadPosRankSum=0.336;SOR=0.666	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1267	20	0	1	0
chr4	118138160	118138160	T	C	exonic	NDST3	.	nonsynonymous SNV	NDST3:NM_004784:exon5:c.T1331C:p.I444T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.587	P	0.531	P	0.000	D	1.000	D	2.725	M	0.83	T	-0.174	T	0.296	T	0.922	4.359	23.0	5.39	2.037	7.969	15.402	0.644	0.0364321548474	.	.	1.649e-05	0	8.682e-05	0	0	0	0	6.058e-05	1.29e-05	2	154602	rs754599126	4.789e-06	4.788e-06	0	9.626e-06	6.956e-05	1.99e-06	1.28e-06	2.995e-05	2.038e-05	0	2.236e-05	0	0	0	0	0	0	6.956e-05	6.574e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.002	0.79402	D	0.368	0.34048	B	0.531	0.48577	P	0.000000	0.84330	D	0.045294	0.999981	0.54805	D	2.815	0.81989	M	0.83	0.47815	T	-4.02	0.74269	D	0.898	0.89800	-0.1739	0.78333	T	0.296	0.66754	T	10	0.844771	0.83639	D	0.036432	0.56990	D	0.644	0.86485	0.583	0.70990	0.860234439383	0.85888	0.9441432382582032	0.94396	1.38980543874	0.84956	0.688610494137	0.65506	T	0.828204	0.95870	D	0.155098	0.69745	D	0.166539	0.81202	D	0.966246366500854	0.67521	D	0.994301	0.98122	D	0.77792645	0.82527	0.75842047	0.85725	0.77792645	0.82528	0.75842047	0.85726	-11.206	0.80775	D	.	.	0.871	0.80959	P	.	.	4.533118	0.71188	25.6	0.99871251919847526	0.94902	0.97817	0.77351	D	AEI	0.938361	0.93743	D	0.503294711551749	0.67282	5.06115	0.554577418095898	0.71718	5.697462	0.999996328342865	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.39	5.39	0.77615	7.990000	0.87862	7.625000	0.62478	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.402	0.74570	951	0.11083	Heparan sulphate-N-deacetylase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	948.98	37	chr4	118138160	.	T	C	948.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.310e-01;DP=809;ExcessHet=0.0000;FS=0.738;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.71;ReadPosRankSum=1.11;SOR=0.839	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1155	20	0	1	0
chr4	118282880	118282880	C	G	exonic	PRSS12	.	nonsynonymous SNV	PRSS12:NM_003619:exon12:c.G2271C:p.R757S,	Mental retardation, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.984	D	0.88	P	0.000	D	0.985	D	0.26	N	-2.31	D	-0.170	T	0.517	D	0.602	3.565	18.17	3.21	0.832	0.444	9.451	0.528	0.0791151522307	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.26519	T	0.03	0.54159	D	0.984	0.60733	D	0.88	0.62516	P	0.000001	0.84330	D	0.092640	0.985025	0.40226	D	0.165	0.08973	N	-2.31	0.87750	D	-1.34	0.33401	N	0.442	0.48042	-0.1698	0.78433	T	0.517	0.81903	D	10	0.38958955	0.54793	T	0.079115	0.73159	D	0.528	0.80067	0.537	0.64730	0.801236475193	0.79937	0.8055341132898387	0.80508	0.418444487779	0.42431	0.412324309349	0.26778	T	0.16079	0.50477	T	0.0687046	0.60691	T	-0.139087	0.60197	T	0.832176685333252	0.48700	D	0.737326	0.35372	T	0.2765532	0.50716	0.15489325	0.36332	0.2765532	0.50716	0.15489325	0.36331	-6.977	0.53866	T	.	.	0.426	0.60983	A	.	.	3.379174	0.46730	22.3	0.99479091863968205	0.66795	0.90523	0.51769	D	ALL	0.540864	0.55725	D	0.148132273511903	0.48725	3.081158	0.186802457122497	0.49122	3.119396	1.0	0.98316	0.634777	0.41761	0	0.0	0.00010	3	0.643519	0.47002	0	0.592323	0.36904	0	.	.	5.88	3.21	0.35933	0.460000	0.21635	-0.140000	0.11527	0.549000	0.26987	0.997000	0.40164	0.038000	0.21505	0.999000	0.91618	0.0:0.6465:0.0:0.3535	9.451	0.37889	952	0.10565	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	761.98	34	chr4	118282880	.	C	G	761.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.580e-01;DP=781;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.29;ReadPosRankSum=-1.964e+00;SOR=0.664	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1227	20	0	1	0
chr4	118338294	118338294	C	T	exonic	PRSS12	.	nonsynonymous SNV	PRSS12:NM_003619:exon2:c.G523A:p.G175S,	Mental retardation, autosomal recessive 1, Autosomal recessive	.	0	1504	18	0	0	18	0.00594845	.	.	207102	PRSS12-related_disorder|Intellectual_disability,_autosomal_recessive_1|not_specified|not_provided	.|MONDO:MONDO:0009580,MedGen:C1855304,OMIM:249500,Orphanet:88616|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.14	T	0.955	P	0.506	P	0.000	D	0.871	D	2.195	M	0.39	T	-0.647	T	0.148	T	0.257	3.714	18.86	4.51	1.255	2.227	12.535	0.257	0.0576085909179	0.0021	0.00279553	0.0021	0.0061	0.0024	0	0.0003	0.0020	0.0045	0.0016	0.0020116	311	154602	rs145151396	0.0015	0.0015	0.0015	0.0016	0.0085	0.0015	0.0015	0.0066	0.0059	0.0051	0.0025	0.0003	0	0.0004	0.0085	0.0014	0.0021	0.0026	0.0027	0.0027	0.0029	0.0025	0.0047	0.0025	0.0024	0.0041	0.0039	0.0047	0	0.0037	0.0006	0	0.0004	0.0102	0.0019	0.0085	0.0015	0.135	0.26192	T	0.153	0.32144	T	0.955	0.54515	P	0.506	0.47823	P	0.000000	0.84330	D	0.043981	0.871458	0.35571	D	1.94	0.52218	M	0.39	0.57419	T	-3.32	0.66085	D	0.459	0.49602	-0.6475	0.62823	T	0.148	0.47451	T	10	0.010552824	0.00234	T	0.057609	0.67028	D	0.257	0.56827	.	.	0.701269253602	0.69868	0.7165600655479207	0.71599	0.541306599398	0.51292	0.339531034231	0.16368	T	0.195372	0.55143	T	-0.436281	0.01360	T	-0.397683	0.33653	T	0.0364894784524041	0.03067	T	0.743426	0.36288	T	0.24946946	0.47941	0.17024039	0.39118	0.21671711	0.44137	0.16610642	0.38390	-6.266	0.48453	T	.	.	0.090	0.12418	B	.	.	2.795842	0.36766	20.3	0.99489805958635746	0.67403	0.79352	0.39305	D	AEFDBCI	0.372233	0.45796	N	-0.06526069059704	0.38923	2.287261	-0.148774829113755	0.33455	1.913908	0.999999920958629	0.74766	0.740787	0.97801	0	0.588015	0.36545	0	0.709663	0.75317	0	0.673998	0.66042	0	.	.	5.35	4.51	0.54589	2.086000	0.41268	0.488000	0.18872	-0.249000	0.07183	0.999000	0.42656	0.070000	0.22201	0.099000	0.18236	0.0:0.9219:0.0:0.0781	12.535	0.55483	944	0.12746	SRCR domain|SRCR domain|SRCR-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2864.11	33	chr4	118338294	.	C	T	2864.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.754;DP=881;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.77;ReadPosRankSum=1.10;SOR=0.724	GT:AD:DP:GQ:PL	0/1:41,64:105:99:1599,0,930	19	0	2	0
chr4	119031018	119031018	G	T	exonic	SYNPO2	.	nonsynonymous SNV	SYNPO2:NM_001128933:exon4:c.G2243T:p.S748I	.	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	B	0.018	B	0.730	N	1.000	N	0.805	L	2.96	T	-0.972	T	0.019	T	0.254	-0.402	2.119	3.57	1.284	1.780	6.047	0.030	0.015349795521	.	0.000399361	0.0001	0	8.64e-05	0	0	0	0	0.0010	0.00011	17	154602	rs537882356	6.772e-05	6.772e-05	3.131e-05	0.0001	0.0011	5.67e-05	5.26e-05	0.0009	0.0009	0	0	0	0	0	0	8.993e-07	4.967e-05	0.0011	5.914e-05	5.907e-05	3.858e-05	8.063e-05	0.0017	3.078e-05	2.21e-05	0.0008	0.0006	0	0	0	0	0	0	0	1.471e-05	0	0.0017	0.108	0.29420	T	0.11	0.41074	T	0.065	0.23521	B	0.018	0.18489	B	0.729853	0.09864	N	0.873486	0.999999	0.20249	N	0.625	0.15840	N	2.96	0.09542	T	-2.12	0.48184	N	0.128	0.13911	-0.9722	0.36734	T	0.019	0.07939	T	9	0.0074926615	0.00170	T	0.01535	0.36031	T	0.030	0.07022	0.255	0.19533	0.0675242888579	0.06100	0.2504468631828171	0.24958	0.094583282972	0.10679	0.449157118797	0.31828	T	0.023989	0.18210	T	-0.535247	0.00358	T	-0.592062	0.13488	T	0.0229257125004156	0.01014	T	0.718228	0.36937	T	0.09335439	0.21924	0.116317995	0.28080	0.09335439	0.21924	0.116317995	0.28080	-9.726	0.72541	D	.	.	0.156	0.35931	B	.;.;.;.	.;.;.;.	1.667511	0.21262	15.12	0.79334927266339106	0.12695	0.22424	0.21741	N	AEFBI	0.329347	0.42972	N	-0.720909159265025	0.15435	0.7778142	-0.698848725545541	0.16989	0.9013395	0.999977825286422	0.50053	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.41	3.57	0.40014	1.838000	0.38851	4.945000	0.46240	0.676000	0.76740	0.027000	0.20232	0.991000	0.31484	0.414000	0.27095	0.0769:0.2666:0.5442:0.1123	6.047	0.18990	577	0.69927	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1275.98	36	chr4	119031018	.	G	T	1275.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.574;DP=1214;ExcessHet=0.0000;FS=4.522;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=1.73;SOR=0.679	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr4	119271640	119271640	G	A	exonic	USP53	.	nonsynonymous SNV	USP53:NM_001371396:exon13:c.G1627A:p.D543N	.	.	430	1089	3	0	0	3	0.00137552	.	.	2269080	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.999	D	0.000	D	1.000	D	2.28	M	1.87	T	-0.853	T	0.180	T	0.159	5.382	34	5.7	2.684	9.184	18.012	0.289	0.0185352585575	.	.	8.381e-06	0	0	0	0	0	0	6.098e-05	6.5e-06	1	154602	rs748278992	9.579e-06	9.577e-06	8.169e-06	1.1e-05	0.0002	5.56e-06	4.35e-06	3.85e-06	2.76e-06	0	0	0	0	0	0.0002	8.094e-06	3.312e-05	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999649	0.48019	D	3.175	0.88760	M	1.87	0.24085	T	-3.77	0.71397	D	0.843	0.97426	-0.8533	0.51739	T	0.180	0.52629	T	10	0.8430111	0.83460	D	0.018535	0.40637	T	0.289	0.60808	0.404	0.43573	0.913352281024	0.91248	0.4721300014297088	0.47131	0.604286070432	0.55376	0.60260784626	0.53273	T	0.173703	0.52267	T	-0.141768	0.29610	T	-0.340786	0.40255	T	0.993717789649963	0.84629	D	0.939306	0.77145	D	0.759889	0.81446	0.6659668	0.80413	0.759889	0.81448	0.6659668	0.80414	-7.192	0.55424	T	0.9669684756440228	0.98953	0.761	0.75547	P	.;.	.;.	4.987418	0.82664	27.8	0.9993191752488142	0.99439	0.99613	0.97991	D	AEFDGBI	0.899098	0.84310	D	0.914353333171289	0.92445	11.42724	0.90085709822688	0.95610	13.78865	0.999999999999885	0.74766	0.730579	0.87903	0	0.588015	0.36545	0	0.608884	0.39905	0	0.648885	0.59868	0	.	.	5.7	5.7	0.88690	9.310000	0.95328	11.831000	0.97525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.012	0.89148	546	0.72524	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1457.98	35	chr4	119271640	.	G	A	1457.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.498e+00;DP=840;ExcessHet=0.0000;FS=0.681;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.25;ReadPosRankSum=1.02;SOR=0.602	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1186	20	0	1	0
chr4	119271709	119271709	C	T	exonic	USP53	.	nonsynonymous SNV	USP53:NM_001371396:exon13:c.C1696T:p.P566S	.	.	436	1068	18	0	0	18	0.00835655	.	.	720732	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.96	T	0.003	B	0.003	B	0.395	N	1.000	N	0.39	N	2.46	T	-0.961	T	0.016	T	0.05	-1.130	0.117	-1.71	-0.270	-0.426	2.575	0.032	.	0.0035	0.00159744	0.0040	0.0008	0.0067	0	0.0006	0.0050	0.0123	0.0029	0.0038421	594	154602	rs147140509	0.0045	0.0045	0.0045	0.0045	0.0113	0.0044	0.0044	0.0091	0.0083	0.0010	0.0038	0.0056	0	0.0014	0.0113	0.0049	0.0050	0.0034	0.0029	0.0029	0.0032	0.0026	0.0044	0.0027	0.0026	0.0040	0.0039	0.0009	0	0.0022	0.0058	0	0.0013	0.0411	0.0044	0.0038	0.0031	0.41	0.10148	T	0.959	0.02555	T	0.003	0.11197	B	0.003	0.08700	B	0.395286	0.13199	N	0.719952	1	0.08975	N	1.12	0.28775	L	2.46	0.14907	T	-1.24	0.31375	N	0.055	0.02658	-0.9613	0.38936	T	0.016	0.06425	T	10	0.0031200051	0.00052	T	.	.	.	0.032	0.07718	.	.	0.307332253619	0.30352	0.07958141728897741	0.07893	0.138693011679	0.15641	0.240512296557	0.02837	T	0.00409	0.03502	T	-0.68941	0.00042	T	-0.761975	0.03042	T	0.000688057911694963	0.00006	T	0.584642	0.21276	T	0.01913809	0.00439	0.023445774	0.00358	0.01913809	0.00439	0.023445774	0.00357	-2.689	0.07211	T	.	.	0.077	0.06433	B	.;.	.;.	-0.276737	0.02721	0.359	0.57365281913069399	0.05753	0.10011	0.15632	N	AEFBI	0.078094	0.15749	N	-1.25241476748835	0.04267	0.1922847	-1.2491995289293	0.05143	0.2443526	0.944076082587791	0.27599	0.730579	0.87903	0	0.588015	0.36545	0	0.65145	0.50148	0	0.648885	0.59868	0	.	.	5.58	-1.71	0.07696	0.011000	0.13162	0.378000	0.17749	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.551000	0.30197	0.108:0.4076:0.2139:0.2705	2.575	0.04513	546	0.72524	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1856.98	35	chr4	119271709	.	C	T	1856.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=954;ExcessHet=0.0000;FS=1.275;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=0.648;SOR=0.732	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1186	20	0	1	0
chr4	119271801	119271801	G	C	exonic	USP53	.	nonsynonymous SNV	USP53:NM_001371396:exon13:c.G1788C:p.K596N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.82	P	0.035	N	0.786	D	2.015	M	0.48	T	-0.407	T	0.243	T	0.062	4.042	20.7	3.71	1.263	1.359	9.652	0.112	0.0273671481651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.025	0.56192	D	0.998	0.73220	D	0.82	0.59072	P	0.035464	0.24640	N	0.405874	0.786313	0.34330	D	2.585	0.75554	M	0.48	0.55945	T	-1.65	0.39503	N	0.403	0.44379	-0.4066	0.71818	T	0.243	0.61142	T	10	0.2934904	0.46923	T	0.027367	0.50187	D	0.112	0.31546	0.179	0.08626	0.68695168648	0.68427	0.14079476716113953	0.14002	0.636712139675	0.57440	0.475926458836	0.35496	T	0.095754	0.39686	T	-0.159747	0.26799	T	-0.467242	0.25814	T	0.965206325054169	0.67194	D	0.876112	0.58827	D	0.22674352	0.45361	0.18983121	0.42352	0.22674352	0.45362	0.18983121	0.42351	-6.968	0.53800	T	.	.	0.529	0.65890	A	.;.	.;.	3.288410	0.45089	22.1	0.99870641327622545	0.94815	0.94427	0.61130	D	AEFDBI	0.426737	0.49097	N	0.437979510911287	0.63525	4.587841	0.405475257690823	0.61905	4.397378	0.999808580347288	0.43304	0.730579	0.87903	0	0.588015	0.36545	0	0.65145	0.50148	0	0.648885	0.59868	0	.	.	5.47	3.71	0.41733	1.781000	0.38274	2.576000	0.33390	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.2234:0.0:0.7766:0.0	9.652	0.39066	546	0.72524	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1923	286.74	129	chr4	119271801	.	G	C	286.74	.	AC=5;AF=0.192;AN=26;BaseQRankSum=-3.983e+00;DP=2647;ExcessHet=1.1607;FS=242.086;InbreedingCoeff=-0.2765;MLEAC=7;MLEAF=0.269;MQ=60.00;MQRankSum=0.00;QD=0.45;ReadPosRankSum=1.51;SOR=10.248	GT:AD:DP:GQ:PL	./.:118,0:118:0:0,0,2089	8	0	5	8
chr4	119519045	119519045	C	T	exonic	PDE5A	.	nonsynonymous SNV	PDE5A:NM_001083:exon14:c.G2000A:p.R667Q	.	.	.	.	.	.	.	.	.	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.964	D	0.383	B	0.000	D	1.000	D	-0.075	N	-1.33	T	-0.558	T	0.266	T	0.734	5.466	35	5.46	2.573	5.727	17.502	0.096	0.128632462537	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1438005042	5.519e-06	8.212e-06	8.246e-06	2.771e-06	7.266e-06	2.37e-06	1.72e-06	3.13e-06	2.26e-06	0	0	0	0	0	0	7.266e-06	0	0	2.63e-05	2.627e-05	0	5.386e-05	4.831e-05	8.15e-06	5.14e-06	8.01e-06	3e-06	4.831e-05	0	0	0	0	9.455e-05	0	1.47e-05	0	0	0.024	0.47745	D	0.029	0.55341	D	0.66	0.55854	P	0.347	0.43945	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.59	0.15444	N	-1.33	0.79854	T	-1.41	0.34795	N	0.817	0.81261	-0.5584	0.66465	T	0.266	0.63727	T	9	0.8241513	0.81603	D	0.128632	0.81059	D	0.499	0.78288	0.597	0.72739	0.868008026345	0.86672	0.6488821514255788	0.64824	1.12963522393	0.78567	0.68768876791	0.65374	T	0.217588	0.63501	T	0.174969	0.71580	D	0.0135541	0.71212	D	0.75016987323761	0.43294	D	0.976402	0.91778	D	0.6789609	0.76913	0.3792777	0.62987	0.6789609	0.76914	0.3792777	0.62987	-5.399	0.40910	T	.	.	0.300	0.56311	B	.;.;.	.;.;.	7.424385	0.96503	36	0.99949242761778856	0.99931	0.96400	0.68952	D	AEFDBI	0.779668	0.71180	D	0.308506955214112	0.56584	3.823347	0.443158200743879	0.64280	4.679463	0.999999999761809	0.74766	0.643511	0.44296	0	0.588066	0.40923	0	0.688494	0.62686	0	0.655142	0.61905	0	.	.	5.46	5.46	0.80021	5.805000	0.68809	7.531000	0.59918	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:1.0:0.0:0.0	17.502	0.87630	643	0.63827	3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|HD/PDEase domain|HD/PDEase domain;3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|HD/PDEase domain|HD/PDEase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1023.98	34	chr4	119519045	.	C	T	1023.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.131e+00;DP=774;ExcessHet=0.0000;FS=4.032;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.13;ReadPosRankSum=0.348;SOR=0.351	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1285	20	0	1	0
chr4	119607011	119607011	C	G	exonic	PDE5A	.	nonsynonymous SNV	PDE5A:NM_001083:exon2:c.G439C:p.D147H	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.976	D	0.348	N	1.000	D	2.19	M	-0.61	T	0.071	D	0.555	D	0.943	4.225	22.0	5.64	2.659	6.050	19.719	0.456	0.094103799757	.	.	.	.	.	.	.	.	.	.	.	.	.	rs759447201	2.736e-06	2.736e-06	1.361e-06	4.125e-06	0.0002	6.4e-07	4.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	8.993e-07	0	2.319e-05	6.572e-06	6.567e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.002	0.78490	D	0.006	0.72224	D	1.0	0.90584	D	0.976	0.73562	D	0.347690	0.13865	N	0.689962	1	0.81001	D	2.865	0.83145	M	-0.61	0.71779	T	-2.47	0.53898	N	0.921	0.92433	0.071	0.83648	D	0.555	0.83729	D	10	0.68441355	0.71474	D	0.094104	0.76193	D	0.456	0.75483	0.343	0.33626	0.895448096461	0.89441	0.6068002662657056	0.60611	1.13603457078	0.78791	0.559072256088	0.47137	T	0.423336	0.77412	T	0.363716	0.87533	D	0.284676	0.87372	D	0.884145265140447	0.53437	D	0.950905	0.81262	D	0.34724998	0.56853	0.2671396	0.52568	0.34724998	0.56853	0.2671396	0.52567	-9.604	0.73184	D	.	.	0.240	0.51480	B	.;.;.;.	.;.;.;.	4.746593	0.76605	26.5	0.99620744278639717	0.75413	0.98103	0.79624	D	AEFBI	0.874328	0.79716	D	0.80606056984058	0.86486	8.900232	0.790120509720419	0.89097	9.83755	0.999999999756761	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.64	5.64	0.86480	6.131000	0.71411	7.563000	0.60525	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.719	0.96128	575	0.70088	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2316.98	33	chr4	119607011	.	C	G	2316.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.49;DP=869;ExcessHet=0.0000;FS=0.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=-4.680e-01;SOR=0.792	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1344	20	0	1	0
chr4	121037369	121037369	G	C	exonic	NDNF	.	nonsynonymous SNV	NDNF:NM_024574:exon4:c.C602G:p.T201S,	.	.	436	1077	9	0	0	9	0.00416089	.	.	2820144	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.5	T	0.997	D	0.994	D	0.000	D	1.000	D	1.525	L	0.65	T	-0.871	T	0.244	T	0.744	2.641	14.79	5.84	2.765	7.993	20.135	0.204	0.0216872234593	0.0005	0.000199681	0.0010	0	0.0011	0	0	0.0013	0.0011	0.0007	0.0008667	134	154602	rs200466645	0.0007	0.0007	0.0007	0.0007	0.0146	0.0007	0.0007	0.0121	0.0111	0.0002	0.0012	0.0096	0	5.616e-05	0.0146	0.0004	0.0014	0.0005	0.0007	0.0007	0.0008	0.0006	0.0012	0.0006	0.0006	0.0008	0.0007	9.622e-05	0	0.0012	0.0112	0	0	0.0068	0.0005	0.0047	0.0002	0.276	0.15717	T	0.507	0.10930	T	0.997	0.70673	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.695	0.17993	N	0.65	0.52642	T	-0.44	0.14588	N	0.455	0.49237	-0.8705	0.50491	T	0.244	0.61319	T	10	0.008491099	0.00192	T	0.021687	0.44492	T	0.204	0.49076	0.196	0.10839	0.763780976484	0.76162	0.2937056347189592	0.29283	0.254108365317	0.27978	0.424705028534	0.28483	T	0.020045	0.15851	T	-0.203961	0.20235	T	-0.111304	0.62506	T	0.0608263988505474	0.07298	T	0.829717	0.49530	T	0.1737543	0.38141	0.15245628	0.35868	0.1737543	0.38141	0.15245628	0.35868	-2.469	0.05573	T	.	.	0.109	0.20780	B	.	.	2.484811	0.32052	18.93	0.987535742626932	0.45694	0.99237	0.93252	D	AEFBI	0.955310	0.97306	D	0.707482115093681	0.80125	7.225069	0.73993664393508	0.85405	8.570237	0.99999999998645	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.84	5.84	0.93373	8.119000	0.89444	8.655000	0.77949	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.135	0.98019	827	0.39843	Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2358.98	108	chr4	121037369	.	G	C	2358.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=2189;ExcessHet=0.0000;FS=1.182;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=-1.259e+00;SOR=0.789	GT:AD:DP:GQ:PL	0/0:97,0:97:99:0,120,1800	20	0	1	0
chr4	121045705	121045705	C	T	exonic	NDNF	.	nonsynonymous SNV	NDNF:NM_024574:exon2:c.G133A:p.V45I,	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.043	B	0.025	B	0.000	D	1.000	D	1.385	L	.	.	-0.924	T	0.177	T	0.332	2.572	14.56	4.87	2.717	5.562	15.126	0.280	0.00263107353969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	0.12837	T	0.887	0.92824	T	0.043	0.21573	B	0.025	0.20508	B	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.835	0.48228	L	.	.	.	-0.18	0.12283	N	0.364	0.40565	-0.9237	0.45041	T	0.177	0.52209	T	9	0.25368458	0.42738	T	0.002631	0.05349	T	0.280	0.59740	0.174	0.08014	0.537125817887	0.53363	0.18076615866330406	0.17995	0.136887808909	0.15440	0.648438453674	0.59764	T	0.028273	0.20519	T	-0.0436997	0.45400	T	-0.300548	0.44667	T	0.785098791122437	0.45371	D	0.775222	0.40690	T	0.11365236	0.26840	0.07460096	0.16336	0.11365236	0.26840	0.07460096	0.16336	-3.705	0.19392	T	.	.	0.073	0.07554	B	.;.;.	.;.;.	2.464038	0.31747	18.83	0.98914586170109975	0.48436	0.95866	0.66491	D	AEFI	0.604146	0.59536	D	0.0135445330183992	0.42470	2.559568	0.20223544383437	0.49971	3.194165	0.999962910084428	0.48965	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.72	4.87	0.62877	5.608000	0.67336	2.144000	0.30864	0.599000	0.40250	1.000000	0.71638	0.975000	0.29991	0.992000	0.67800	0.0:0.9313:0.0:0.0687	15.126	0.72162	836	0.38045	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1399.98	42	chr4	121045705	.	C	T	1399.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.340e-01;DP=903;ExcessHet=0.0000;FS=4.574;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=1.67;SOR=0.649	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr4	121670000	121670000	C	T	exonic	ANXA5	.	nonsynonymous SNV	ANXA5:NM_001154:exon11:c.G734A:p.R245Q,	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.999	D	0.711	P	0.000	D	1.000	D	1.76	L	2.76	T	-1.179	T	0.052	T	0.861	4.027	20.7	5.52	2.584	6.086	18.198	0.239	0.00814331002882	0.0012	0.000199681	0.0010	0	0.0009	0	0	0.0015	0.0033	0.0003	0.0008603	133	154602	rs145513784	0.0006	0.0007	0.0006	0.0007	0.0026	0.0006	0.0006	0.0016	0.0013	9.164e-05	0.0006	0.0145	2.533e-05	5.623e-05	0.0026	0.0004	0.0013	0.0005	0.0007	0.0007	0.0008	0.0006	0.0012	0.0006	0.0006	0.0008	0.0006	7.227e-05	0	0.0012	0.0130	0	9.457e-05	0.0034	0.0005	0.0009	0.0002	0.076	0.38407	T	0.36	0.29249	T	0.999	0.77913	D	0.711	0.54536	P	0.000025	0.55875	D	0.113115	0.999994	0.58761	D	1.955	0.52871	M	2.76	0.11515	T	-2.93	0.64593	D	0.529	0.55799	-1.1791	0.00383	T	0.052	0.22114	T	10	0.0099906325	0.00224	T	0.008143	0.21572	T	0.239	0.54358	.	.	0.64992776045	0.64702	0.7287318009238326	0.72817	0.600742330255	0.55147	0.472031742334	0.34959	T	0.363	0.72864	T	-0.127122	0.31964	T	-0.0504644	0.66991	D	0.177510887384415	0.19077	T	0.956004	0.83260	D	0.493785	0.66728	0.28685826	0.54695	0.493785	0.66729	0.28685826	0.54695	-6.312	0.48817	T	.	.	0.273	0.54250	B	.;.;.	.;.;.	5.566614	0.92182	32	0.99848833101050494	0.92838	0.97867	0.77726	D	AEFBI	0.735570	0.68134	D	0.499319450162693	0.67051	5.030303	0.564963731177956	0.72447	5.810905	0.999999999997475	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	4.614000	0.60886	7.568000	0.60641	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.198	0.89762	802	0.44336	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	431.98	35	chr4	121670000	.	C	T	431.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.736;DP=753;ExcessHet=0.0000;FS=4.201;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.19;ReadPosRankSum=1.43;SOR=0.860	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr4	121678413	121678413	A	G	splicing	ANXA5	NM_001154:exon7:c.474+2T>C	.	.	.	.	.	.	.	.	.	.	.	0.9923	0.646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.060	16.22	4.93	1.984	7.533	14.527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1287473011	6.848e-06	6.841e-06	5.451e-06	8.26e-06	5.821e-05	3.46e-06	2.53e-06	2.201e-05	1.435e-05	0	0	0	0	0	0	2.7e-06	3.315e-05	5.821e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254533	0.79023	D	0.228472	0.84594	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.977330	0.82420	27.8	0.99287808151970469	0.58149	0.98089	0.79505	D	AEFBI	0.833309	0.75154	D	1.04017889420868	0.96852	15.233	0.858452926694614	0.93500	12.084	0.999999999233473	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.93	4.93	0.64394	7.526000	0.80815	11.092000	0.85948	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.821000	0.38685	1.0:0.0:0.0:0.0	14.527	0.67483	781	0.47532	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1077.98	98	chr4	121678413	.	A	G	1077.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.799;DP=810;ExcessHet=0.0000;FS=3.929;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.00;ReadPosRankSum=2.79;SOR=1.123	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr4	121764985	121764985	C	T	exonic	SMIM43	.	nonsynonymous SNV	SMIM43:NM_001384332:exon1:c.G121A:p.G41R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1343404033	0	4.771e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.569e-06	6.566e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2973375	0.47295	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.49235	B	.	.	4.081666	0.60724	24.3	0.75329312785104041	0.11033	0.72831	0.35636	D	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999999573021053	0.74766	0.11394	0.02926	0	0.166317	0.03975	0	0.183864	0.04481	0	0.166187	0.04126	0	0.934145	0.59467	4.27	4.27	0.50009	1.966000	0.40105	7.305000	0.58104	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.402000	0.26827	0.0:1.0:0.0:0.0	12.397	0.54723	794	0.45591	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	34.48	76	chr4	121764985	.	C	T	34.48	.	AC=2;AF=0.071;AN=28;DP=76;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3573;MLEAC=2;MLEAF=0.071;MQ=60.00;QD=17.24;SOR=0.693	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,54	13	1	0	7
chr4	121801465	121801465	T	C	exonic	EXOSC9	.	nonsynonymous SNV	EXOSC9:NM_001034194:exon1:c.T41C:p.L14P	.	YES	433	1088	1	0	0	1	0.000459348	.	.	540570	not_provided|Pontocerebellar_hypoplasia,_type_1D|Cerebral_atrophy	MedGen:C3661900|MONDO:MONDO:0054844,MedGen:C4748058,OMIM:618065|Human_Phenotype_Ontology:HP:0002059,Human_Phenotype_Ontology:HP:0002422,Human_Phenotype_Ontology:HP:0006890,MedGen:C0235946	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.52	M	0.79	T	-0.341	T	0.325	T	0.859	4.831	27.4	5.83	2.224	6.955	15.197	0.606	0.204437684395	0.0002	0.000199681	4.947e-05	0.0006	0	0	0	0	0	0	4.53e-05	7	154602	rs139632595	2.805e-05	2.805e-05	3.948e-05	1.65e-05	0.0011	2.086e-05	1.878e-05	0.0008	0.0007	0.0011	2.236e-05	0	0	0	0	0	6.623e-05	0	0.0002	0.0002	0.0002	0.0003	0.0009	0.0002	0.0002	0.0006	0.0006	0.0009	0	6.534e-05	0	0	0	0	0	0	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.88582	D	0.000025	0.55875	D	0.072740	1	0.81001	D	2.905	0.84014	M	0.79	0.49068	T	-4.15	0.76655	D	0.871	0.87373	-0.3410	0.73814	T	0.325	0.69376	T	10	0.632215	0.68581	D	0.204438	0.86931	D	0.606	0.84506	.	.	0.718868093771	0.71639	0.9487137895124373	0.94854	0.489470635686	0.47710	0.872409939766	0.92911	D	0.41022	0.76503	T	-0.0233605	0.48372	T	0.116963	0.78033	D	0.88196849822998	0.53205	D	0.893011	0.66210	D	0.97871554	0.99010	0.9496481	0.98378	0.9802476	0.99129	0.9345446	0.97405	-13.708	0.92069	D	0.8318251000657702	0.90245	0.987	0.92791	P	.;.;.	.;.;.	5.347467	0.89711	31	0.99903382997254697	0.97502	0.89794	0.50492	D	AEFGBHCIJ	0.858075	0.77553	D	0.793359652612978	0.85689	8.651431	0.753850488408733	0.86442	8.891298	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.83	5.83	0.93059	6.931000	0.75678	7.769000	0.68436	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.463000	0.28185	0.0:0.0:0.0:1.0	15.197	0.72782	825	0.40060	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	4401.08	34	chr4	121801465	.	T	C	4401.08	.	AC=2;AF=0.048;AN=42;DP=854;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.94;SOR=0.912	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1273	20	1	0	0
chr4	121813268	121813268	A	G	exonic	EXOSC9	.	nonsynonymous SNV	EXOSC9:NM_001034194:exon9:c.A862G:p.I288V	.	.	.	.	.	.	.	.	.	.	.	1360153	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.37	T	0.0	B	0.001	B	0.000	N	0.999	D	1.155	L	1.87	T	-1.067	T	0.042	T	0.073	2.061	12.85	4.72	1.057	2.789	5.880	0.042	0.00576734358985	0.0003	0.000199681	0.0001	0	0	0	0	0.0002	0	6.057e-05	0.00011	17	154602	rs34457380	9.51e-05	9.508e-05	8.033e-05	0.0001	0.0002	8.203e-05	7.718e-05	9.613e-05	8.96e-05	5.975e-05	2.236e-05	0	7.564e-05	0	0.0002	0.0001	6.625e-05	3.479e-05	0.0001	0.0001	0.0002	9.396e-05	0.0002	8.658e-05	7.251e-05	0.0002	0.0001	2.405e-05	0	0	0	0.0002	0	0	0.0002	0.0005	0	0.239	0.29420	T	0.595	0.08419	T	0.0	0.02946	B	0.0	0.04355	B	0.000147	0.49130	N	0.258364	0.999001	0.45857	D	0.975	0.24501	L	1.87	0.25018	T	-0.37	0.13226	N	0.22	0.24634	-1.0673	0.10017	T	0.042	0.17910	T	10	0.05305022	0.05434	T	0.005767	0.14982	T	0.042	0.11227	.	.	0.173771789658	0.16945	0.19315542129959842	0.19233	0.0549176576499	0.06084	0.342042416334	0.16744	T	0.012731	0.11141	T	-0.485094	0.00691	T	-0.649867	0.08963	T	0.0886996622977503	0.11062	T	0.823718	0.48487	T	0.07847878	0.17874	0.06680852	0.13738	0.07847878	0.17874	0.06680852	0.13737	-3.227	0.12813	T	0.11029195706250744	0.09305	0.061	0.02200	B	.;.;.	.;.;.	2.395845	0.30777	18.54	0.98832433358636629	0.46985	0.82022	0.41316	D	AEFBCI	0.255146	0.37432	N	-0.212169926200213	0.32634	1.842535	-0.0228684581405713	0.38683	2.282644	0.999240855674848	0.38873	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.9	4.72	0.59248	2.788000	0.47495	7.096000	0.57520	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.7172:0.1408:0.142:0.0	5.880	0.18095	824	0.40336	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	896.98	33	chr4	121813268	.	A	G	896.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.40;DP=796;ExcessHet=0.0000;FS=0.930;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=-1.026e+00;SOR=0.843	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1110	20	0	1	0
chr4	122316514	122316514	A	G	exonic	KIAA1109	.	nonsynonymous SNV	KIAA1109:NM_001384125:exon62:c.A10706G:p.H3569R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	.	.	.	.	.	.	1.000	D	.	.	1.59	T	-0.862	T	0.160	T	0.523	2.491	14.29	5.27	2.108	7.102	15.480	0.156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.669e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.12796	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.59	0.28836	T	0.3	0.04091	N	.	.	-0.8618	0.51133	T	0.160	0.49463	T	6	0.2771085	0.45276	T	.	.	.	0.156	0.40720	0.231	0.15855	0.545173277474	0.54172	.	.	.	.	.	.	.	0.002105	0.01509	T	-0.076939	0.40210	T	-0.348294	0.39400	T	0.617290539001975	0.37095	D	0.390061	0.09662	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.16973	B	.;.	.;.	2.262371	0.28910	17.95	0.97995682254424743	0.37438	0.99262	0.93620	D	AEFBI	0.798408	0.72496	D	0.411702957054516	0.62064	4.416458	0.486254321042019	0.67079	5.036178	0.99996692957306	0.48965	0.615465	0.37627	0	0.446627	0.06534	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	5.27	5.27	0.73797	7.417000	0.79365	6.100000	0.53542	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.480	0.75253	877	0.30165	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1285.98	34	chr4	122316514	.	A	G	1285.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.000e-02;DP=785;ExcessHet=0.0000;FS=0.789;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=-1.008e+00;SOR=0.610	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1409	20	0	1	0
chr4	122336911	122336911	A	G	exonic	KIAA1109	.	nonsynonymous SNV	KIAA1109:NM_015312:exon69:c.A12041G:p.H4014R	.	.	444	1075	3	0	0	3	0.0013934	.	.	3294725	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.54	T	0.013	B	0.025	B	0.010	N	1.000	D	0.895	L	2.59	T	-0.860	T	0.191	T	0.231	1.853	12.15	5.39	2.045	7.232	15.398	0.050	0.0051969754824	.	.	8.328e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs747274944	4.807e-06	4.788e-06	2.732e-06	6.905e-06	0.0007	2e-06	1.29e-06	0.0002	0.0001	0	0	0	0	0	0.0007	0	4.982e-05	0	6.572e-06	6.567e-06	0	1.346e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.352	0.12345	T	0.054	0.47097	T	0.002	0.09854	B	0.007	0.12992	B	0.010222	0.30012	N	0.348186	0.993635	0.42003	D	0.345	0.11182	N	2.59	0.29085	T	-1.18	0.37375	N	0.348	0.38950	-0.8597	0.51284	T	0.191	0.54359	T	10	0.22510254	0.39332	T	0.005197	0.13248	T	0.050	0.13987	0.215	0.13498	0.488266720666	0.48458	0.5063155891993556	0.50553	0.799598274206	0.66178	0.528191030025	0.42779	T	0.025389	0.20950	T	-0.175708	0.24377	T	-0.490169	0.23372	T	0.214378878474236	0.21179	T	0.913309	0.69449	D	0.13907705	0.32140	0.12816769	0.30839	0.13907705	0.32140	0.12816769	0.30838	-3.803	0.20849	T	.	.	0.133	0.28750	B	.;.;.	.;.;.	2.761562	0.36222	20.2	0.95366332178034185	0.26772	0.97472	0.74969	D	AEBI	0.878207	0.80332	D	0.292646536960567	0.55775	3.741637	0.403235880106808	0.61767	4.38144	0.999842087040871	0.43971	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.39	5.39	0.77615	7.221000	0.77505	11.264000	0.91177	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.398	0.74537	883	0.28872	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1033.98	34	chr4	122336911	.	A	G	1033.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.230e-01;DP=783;ExcessHet=0.0000;FS=0.757;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=-5.860e-01;SOR=0.798	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1150	20	0	1	0
chr4	122743751	122743751	A	G	exonic	BBS12	.	nonsynonymous SNV	BBS12:NM_152618:exon2:c.A1859G:p.Q620R	Bardet-Biedl syndrome 12, Autosomal recessive	.	0	1511	11	0	0	11	0.00362677	.	.	428273	not_specified|Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|BBS12-related_disorder|not_provided|Bardet-Biedl_syndrome_12	MedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|.|MedGen:C3661900|MONDO:MONDO:0014440,MedGen:C1859570,OMIM:615989,Orphanet:110	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.33	T	0.934	P	0.643	P	0.035	N	1.000	N	1.95	M	-0.39	T	-0.611	T	0.339	T	0.458	2.396	13.97	5.81	2.217	4.744	16.177	0.222	0.0271584996118	0.0008	.	0.0006	9.645e-05	0.0004	0	0	0.0009	0	0.0002	0.0006209	96	154602	rs139278612	0.0006	0.0006	0.0006	0.0006	0.0026	0.0005	0.0005	0.0016	0.0013	0.0001	0.0007	0.0007	0	0	0.0026	0.0006	0.0008	0.0003	0.0005	0.0005	0.0005	0.0004	0.0009	0.0004	0.0003	0.0007	0.0007	4.826e-05	0	0.0004	0.0003	0	0	0	0.0009	0	0	0.031	0.45039	D	0.062	0.45318	T	0.934	0.52202	P	0.643	0.52216	P	0.034628	0.24746	N	0.442058	1	0.08975	N	2.655	0.77738	M	-0.39	0.69158	T	-1.25	0.31576	N	0.245	0.27792	-0.6108	0.64370	T	0.339	0.70486	T	10	0.10503021	0.19394	T	0.027158	0.50001	D	0.222	0.51872	.	.	0.809745172812	0.80795	0.27689204167236214	0.27602	0.412975415952	0.42019	0.273145258427	0.06555	T	0.068718	0.33527	T	-0.268843	0.11886	T	-0.227773	0.51986	T	0.0926866150619246	0.11532	T	0.624837	0.24114	T	0.17414626	0.38202	0.17718011	0.40302	0.17414626	0.38201	0.17718011	0.40301	-4.108	0.25408	T	0.7717832519587529	0.85269	0.091	0.14797	B	.;.	.;.	3.546639	0.49836	22.8	0.99720394747942087	0.81984	0.84716	0.43803	D	AEFDBCI	0.282756	0.39602	N	0.285092142865061	0.55391	3.703323	0.250903061445806	0.52702	3.443181	0.999997528288319	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.81	5.81	0.92413	4.142000	0.57810	5.248000	0.48084	0.691000	0.84096	0.983000	0.35670	1.000000	0.68203	0.967000	0.53440	1.0:0.0:0.0:0.0	16.177	0.81677	461	0.78683	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1099.98	33	chr4	122743751	.	A	G	1099.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.515e+00;DP=1199;ExcessHet=0.0000;FS=5.965;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.09;ReadPosRankSum=0.701;SOR=0.581	GT:AD:DP:GQ:PL	0/1:60,49:109:99:1114,0,1631	20	0	1	0
chr4	122743906	122743906	G	A	exonic	BBS12	.	nonsynonymous SNV	BBS12:NM_152618:exon2:c.G2014A:p.A672T	Bardet-Biedl syndrome 12, Autosomal recessive	.	0	1499	22	1	0	24	0.00794176	.	.	683621	Bardet-Biedl_syndrome_12|Bardet-Biedl_syndrome|not_provided	MONDO:MONDO:0014440,MedGen:C1859570,OMIM:615989,Orphanet:110|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.14	T	1.0	D	1.0	D	0.000	D	1.000	D	2.295	M	-0.62	T	-0.020	T	0.554	D	0.82	5.308	34	5.91	2.793	8.766	20.299	0.569	0.0482037783086	7.7e-05	0.000798722	0.0012	0	8.648e-05	0	0	0.0001	0.0022	0.0091	0.0010414	161	154602	rs140895713	0.0006	0.0006	0.0003	0.0009	0.0086	0.0006	0.0005	0.0081	0.0079	0	2.299e-05	0	0	0	0.0024	6.046e-05	0.0007	0.0086	0.0003	0.0003	0.0001	0.0004	0.0066	0.0002	0.0002	0.0048	0.0042	0	0	0.0001	0	0	0	0	0.0001	0.0005	0.0066	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.785	0.81254	M	-0.62	0.71895	T	-2.69	0.57435	D	0.811	0.80669	-0.0197	0.81845	T	0.554	0.83714	D	10	0.018981725	0.00419	T	0.048204	0.63269	D	0.569	0.82460	.	.	0.885391180531	0.88426	0.6774444198983406	0.67683	0.457058569676	0.45352	0.500383377075	0.38882	T	0.386616	0.74774	T	-0.0648053	0.42154	T	0.139967	0.79542	D	0.140191160512219	0.16292	T	0.807619	0.45757	T	0.6702086	0.76444	0.6674952	0.80499	0.6690924	0.76385	0.6767098	0.81015	-8.019	0.61199	D	0.9670926834415642	0.98958	0.292	0.52712	B	.;.	.;.	4.704194	0.75506	26.3	0.9994709427655859	0.99913	0.99088	0.91048	D	AEFBI	0.868321	0.78839	D	0.90273562238733	0.91893	11.12072	0.897381362830219	0.95458	13.64052	0.999999999999998	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.91	5.91	0.95240	8.990000	0.93072	9.830000	0.81856	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.299	0.98594	461	0.78683	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1461.98	33	chr4	122743906	.	G	A	1461.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.259;DP=901;ExcessHet=0.0000;FS=1.384;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=1.81;SOR=0.744	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr4	122927693	122927693	A	G	exonic	SPATA5	.	nonsynonymous SNV	SPATA5:NM_001317799:exon2:c.A220G:p.M74V	Epilepsy, hearing loss, and mental retardation syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	631917	Microcephaly-intellectual_disability-sensorineural_hearing_loss-epilepsy-abnormal_muscle_tone_syndrome	MONDO:MONDO:0014698,MedGen:C4225276,OMIM:616577,Orphanet:457351	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.99	D	0.979	D	0.000	D	0.998	D	1.185	L	-1.76	D	0.232	D	0.581	D	0.751	3.579	18.24	4.38	1.992	7.210	12.66	0.735	0.0839197821799	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1311055750	2.053e-06	2.052e-06	4.086e-06	0	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.657e-05	0	1.314e-05	1.313e-05	0	2.689e-05	4.825e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.825e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.009	0.66756	D	0.982	0.60036	D	0.952	0.69102	D	0.000000	0.84330	D	0.000000	0.997863	0.44266	D	.	.	.	-1.76	0.83578	D	-1.89	0.44094	N	0.683	0.68950	0.232	0.86443	D	0.581	0.84933	D	10	0.7550568	0.75920	D	0.08392	0.74217	D	0.735	0.90764	0.523	0.62668	0.917826350143	0.91699	0.7289398399414698	0.72837	0.366881939327	0.38250	0.471251100302	0.34853	T	0.039895	0.25345	T	0.245506	0.78179	D	0.114876	0.77896	D	0.978622496128082	0.72419	D	0.861114	0.55479	D	0.7053616	0.78351	0.76279837	0.85986	0.7053616	0.78352	0.76279837	0.85987	-8.124	0.61912	D	.	.	0.284	0.51686	B	.	.	4.020819	0.59386	24.1	0.99308998380676783	0.58943	0.98613	0.84704	D	AEFBI	0.765780	0.70216	D	0.595678882717445	0.72903	5.879732	0.58207538019271	0.73655	6.006202	0.999999985751549	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.553451	0.17756	0	.	.	4.38	4.38	0.52019	7.193000	0.77307	7.650000	0.63651	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	12.66	0.56172	759	0.50631	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	871.98	37	chr4	122927693	.	A	G	871.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.265;DP=788;ExcessHet=0.0000;FS=11.848;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.08;ReadPosRankSum=0.498;SOR=1.583	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1235	20	0	1	0
chr4	122934357	122934357	A	G	exonic	SPATA5	.	nonsynonymous SNV	SPATA5:NM_001317799:exon5:c.A763G:p.I255V	Epilepsy, hearing loss, and mental retardation syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	453718	not_provided|AFG2A-related_disorder|Microcephaly-intellectual_disability-sensorineural_hearing_loss-epilepsy-abnormal_muscle_tone_syndrome	MedGen:C3661900|.|MONDO:MONDO:0014698,MedGen:C4225276,OMIM:616577,Orphanet:457351	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.41	T	0.0	B	0.0	B	0.951	N	1.000	N	-1.1	N	-3.28	D	-0.604	T	0.358	T	0.035	-3.101	0.001	1.87	0.268	-0.043	7.706	0.137	0.0316436383778	0.0007	0.00219649	0.0003	0.0030	8.648e-05	0	0	0	0	6.057e-05	0.0003299	51	154602	rs143384152	8.893e-05	8.893e-05	0.0001	7.563e-05	0.0031	7.622e-05	7.167e-05	0.0026	0.0024	0.0031	0.0002	0	0	0	0	7.194e-06	9.934e-05	2.319e-05	0.0011	0.0011	0.0013	0.0009	0.0039	0.0009	0.0009	0.0034	0.0032	0.0039	0	6.537e-05	0	0	0	0	0	0.0009	0	0.767	0.03412	T	0.73	0.05165	T	0.0	0.02946	B	0.0	0.01387	B	0.950718	0.07654	N	1.021630	1	0.08975	N	.	.	.	-3.28	0.93691	D	0.1	0.05810	N	0.011	0.00110	-0.6040	0.64652	T	0.358	0.72069	T	10	0.0043099523	0.00087	T	0.031644	0.53678	D	0.137	0.36984	.	.	0.620522651735	0.61745	0.06366506222180272	0.06305	0.119119713132	0.13412	0.244962960482	0.03256	T	0.008203	0.07540	T	-0.490605	0.00645	T	-0.478653	0.24590	T	0.00650175021044853	0.00073	T	0.381762	0.09261	T	0.023030862	0.01009	0.025889365	0.00652	0.023030862	0.01009	0.025889365	0.00652	-2.775	0.07955	T	0.06560879939647159	0.02176	0.053	0.00269	B	.	.	-0.601015	0.01569	0.104	0.2268321421761462	0.00924	0.01251	0.04401	N	AEFGBHCI	0.014428	0.00229	N	-1.45218740047816	0.02199	0.09685469	-1.37650435715067	0.03504	0.1635765	0.999994438509772	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	4.58	1.87	0.24559	0.021000	0.13381	0.874000	0.22338	-0.756000	0.03544	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.3362:0.0:0.6638:0.0	7.706	0.27814	758	0.50837	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2167.98	34	chr4	122934357	.	A	G	2167.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=853;ExcessHet=0.0000;FS=9.468;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=0.675;SOR=1.297	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1154	20	0	1	0
chr4	123256160	123256160	G	T	exonic	SPATA5	.	nonsynonymous SNV	SPATA5:NM_001345856:exon15:c.G2482T:p.D828Y	Epilepsy, hearing loss, and mental retardation syndrome, Autosomal recessive	.	434	1061	26	1	0	28	0.0130233	.	.	428275	Microcephaly-intellectual_disability-sensorineural_hearing_loss-epilepsy-abnormal_muscle_tone_syndrome|not_provided|not_specified	MONDO:MONDO:0014698,MedGen:C4225276,OMIM:616577,Orphanet:457351|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	0.489	P	0.313	B	0.002	N	0.784	N	1.615	L	-3.57	D	0.242	D	0.638	D	0.596	0.355	5.928	3.08	0.608	1.687	15.582	0.512	.	0.0042	0.0071885	0.0102	0.0021	0.0492	0.0030	0.0023	0.0069	0.0066	0.0086	0.0094759	1465	154602	rs35206443	0.0078	0.0078	0.0080	0.0077	0.0420	0.0077	0.0077	0.0404	0.0397	0.0019	0.0420	0.0084	0.0025	0.0029	0.0198	0.0069	0.0080	0.0091	0.0063	0.0063	0.0065	0.0061	0.0186	0.0060	0.0059	0.0168	0.0161	0.0024	0	0.0186	0.0072	0.0042	0.0027	0.0442	0.0062	0.0118	0.0083	0.001	0.78490	D	0.003	0.76473	D	0.489	0.36925	P	0.313	0.41496	B	0.002152	0.37138	N	0.163302	0.783887	0.29302	N	.	.	.	-3.57	0.94904	D	-5.03	0.82575	D	0.665	0.67391	0.242	0.86605	D	0.638	0.87336	D	10	0.0061918497	0.00139	T	.	.	.	0.512	0.79094	.	.	.	.	0.5655072548150628	0.56477	0.347071527529	0.36602	0.335899531841	0.15823	T	0.229589	0.59544	T	-0.155933	0.27387	T	0.0360934	0.72673	D	0.0574242337123736	0.06757	T	0.956304	0.83415	D	0.71545744	0.78909	0.61800754	0.77756	0.71545744	0.78911	0.61800754	0.77757	-8.504	0.64456	D	0.38576921051272656	0.47959	0.115	0.23005	B	.	.	2.707522	0.35383	19.88	0.81853234395700014	0.13893	0.69723	0.34301	D	AEFDBI	0.118458	0.23162	N	-0.283515088858939	0.29784	1.654859	-0.341584590906976	0.26770	1.480833	0.444252778732634	0.20480	0.693126	0.56070	0	0.633656	0.55848	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	4.87	3.08	0.34576	1.284000	0.32855	6.572000	0.55971	0.676000	0.76740	0.930000	0.32276	1.000000	0.68203	0.064000	0.16252	0.0:0.4705:0.5295:0.0	15.582	0.76195	127	0.94899	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	2619.98	33	chr4	123256160	.	G	T	2619.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.098;DP=891;ExcessHet=0.0000;FS=6.552;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.40;ReadPosRankSum=-3.490e-01;SOR=1.143	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr4	124671643	124671643	C	T	exonic	ANKRD50	.	nonsynonymous SNV	ANKRD50:NM_001167882:exon3:c.G1097A:p.G366E	.	.	431	1068	22	1	0	24	0.0111111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.96	D	0.000	D	1.000	D	2.545	M	1.67	T	-0.633	T	0.215	T	0.985	3.628	18.45	4.98	2.590	7.164	18.448	0.636	0.158767906107	.	0.000199681	0.0004	0	8.685e-05	0	0	2.998e-05	0	0.0029	0.0003363	52	154602	rs200427768	0.0003	0.0003	0.0002	0.0004	0.0036	0.0003	0.0003	0.0033	0.0032	0	0.0003	7.655e-05	0	0	0.0017	4.947e-05	0.0003	0.0036	0.0002	0.0002	0.0002	0.0001	0.0029	0.0001	8.72e-05	0.0018	0.0014	0	0	0	0	0.0002	0	0	0.0001	0.0005	0.0029	0.067	0.40068	T	0.003	0.76473	D	0.999	0.77913	D	0.96	0.70309	D	0.000004	0.62929	D	0.060049	1	0.81001	D	3.115	0.87836	M	1.67	0.27331	T	-4.57	0.78721	D	0.942	0.95256	-0.6334	0.63426	T	0.215	0.57679	T	10	0.13570702	0.25823	T	0.158768	0.83910	D	0.636	0.86078	.	.	0.773968156545	0.77189	0.7598854751198307	0.75936	0.788452715211	0.65643	0.889455974102	0.95193	D	0.200385	0.55795	T	-0.0749454	0.40534	T	0.117464	0.78066	D	0.237247473583348	0.22292	T	0.935306	0.75759	D	0.4090051	0.61350	0.53907555	0.73363	0.4090051	0.61351	0.53907555	0.73363	-7.949	0.61125	D	.	.	0.714	0.73550	P	.;.	.;.	4.603536	0.72932	25.9	0.99753849789489613	0.84460	0.98707	0.85832	D	AEFBI	0.871796	0.79336	D	0.792809154617797	0.85654	8.640904	0.737730294685214	0.85237	8.521269	0.999999999972484	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.98	4.98	0.65679	7.232000	0.77582	7.460000	0.59046	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.295000	0.24381	0.0:1.0:0.0:0.0	18.448	0.90638	933	0.16026	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	6667.11	34	chr4	124671643	.	C	T	6667.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.39;DP=1241;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=0.454;SOR=0.724	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	19	0	2	0
chr4	124671884	124671884	G	T	exonic	ANKRD50	.	nonsynonymous SNV	ANKRD50:NM_001167882:exon3:c.C856A:p.Q286K	.	.	429	1085	8	0	0	8	0.00367309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.037	B	0.023	B	0.000	D	1.000	D	1.24	L	-0.16	T	-0.921	T	0.182	T	0.489	1.124	9.581	5.39	2.809	7.238	15.718	0.136	0.00695152934178	.	.	.	.	.	.	.	.	.	.	.	.	.	rs755206068	6.157e-06	6.156e-06	5.446e-06	6.876e-06	0.0002	2.9e-06	2.1e-06	2.995e-05	2.038e-05	0	0	0	0	0	0.0002	0	3.312e-05	6.957e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.02652	T	0.831	0.03706	T	0.037	0.20876	B	0.023	0.19966	B	0.000043	0.53742	D	0.126866	0.999945	0.51968	D	1.61	0.41143	L	-0.19	0.65931	T	-0.43	0.14390	N	0.342	0.38335	-0.9215	0.45348	T	0.182	0.53041	T	10	0.22738245	0.39616	T	0.006952	0.18402	T	0.136	0.36778	0.508	0.60386	0.597428956802	0.59422	0.6609207071271961	0.66029	0.317064055996	0.33956	0.723753333092	0.70595	T	0.02675	0.19729	T	-0.0642555	0.42239	T	-0.233221	0.51459	T	0.502197504043579	0.32710	D	0.89791	0.64303	D	0.09215165	0.21612	0.084877744	0.19559	0.09215165	0.21612	0.084877744	0.19559	-3.607	0.17958	T	.	.	0.117	0.23848	B	.;.	.;.	2.588667	0.33574	19.38	0.92808585665269028	0.22333	0.98824	0.87336	D	AEFBI	0.880662	0.80747	D	0.0976461744779218	0.46353	2.87694	0.291034202552886	0.55013	3.665067	0.999999729386279	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.39	5.39	0.77615	7.343000	0.78559	8.606000	0.77748	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.397000	0.26714	0.0:0.0:0.8632:0.1368	15.718	0.77447	933	0.16026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3027.98	34	chr4	124671884	.	G	T	3027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.086;DP=988;ExcessHet=0.0000;FS=2.269;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.58;ReadPosRankSum=0.554;SOR=0.622	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr4	125449070	125449070	G	A	exonic	FAT4	.	nonsynonymous SNV	FAT4:NM_001291285:exon10:c.G8060A:p.R2687Q	Hennekam lymphangiectasia-lymphedema syndrome 2, Autosomal recessive;Van Maldergem syndrome 2, Autosomal recessive	YES	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.117	B	0.019	B	0.011	U	0.986	D	-0.155	N	0.75	T	-1.065	T	0.054	T	0.046	1.590	11.27	5.02	1.407	4.895	9.541	0.083	0.00690139784479	.	.	5.799e-05	0	0	0.0005	0	3.002e-05	0	6.058e-05	4.53e-05	7	154602	rs777764521	1.505e-05	1.505e-05	1.77e-05	1.238e-05	0.0003	9.85e-06	8.41e-06	0.0001	0.0001	2.988e-05	0	0	0.0003	0	0.0003	5.396e-06	0	3.479e-05	6.583e-06	1.314e-05	0	1.348e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.38	0.11191	T	1.0	0.01155	T	0.046	0.26519	B	0.019	0.18783	B	0.010980	0.29712	U	0.000000	0.985788	0.40334	D	0.255	0.09829	N	0.75	0.50192	T	0.42	0.03352	N	0.121	0.11197	-1.0651	0.10526	T	0.054	0.22883	T	10	0.050094992	0.04692	T	0.006901	0.18261	T	0.083	0.24192	.	.	0.151262610727	0.14761	0.24804494689379583	0.24718	0.180123895676	0.20259	0.211375027895	0.00871	T	0.025595	0.19108	T	-0.478548	0.00754	T	-0.605168	0.12380	T	0.0575297231732835	0.06774	T	0.89651	0.63872	D	0.04999956	0.08965	0.040714867	0.04463	0.04999956	0.08964	0.040714867	0.04463	-3.396	0.15003	T	.	.	0.075	0.05579	B	.;.	.;.	2.442620	0.31438	18.74	0.96928588378928715	0.31648	0.91722	0.54125	D	AEFBI	0.324508	0.42638	N	-0.308482173063226	0.28824	1.593177	-0.0684486543051126	0.36704	2.139369	0.497572572461711	0.20915	0.732398	0.92422	0	0.573888	0.26702	0	0.618467	0.43123	0	0.727631	0.95156	0	.	.	5.9	5.02	0.66742	4.924000	0.63118	9.892000	0.82281	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0805:0.1421:0.7773:0.0	9.541	0.38416	922	0.19044	Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	3732.98	144	chr4	125449070	.	G	A	3732.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.77;DP=2750;ExcessHet=0.0000;FS=2.977;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=1.21;SOR=0.575	GT:AD:DP:GQ:PL	0/1:166,155:321:99:3747,0,3873	20	0	1	0
chr4	125450146	125450146	G	A	exonic	FAT4	.	nonsynonymous SNV	FAT4:NM_001291285:exon10:c.G9136A:p.A3046T	Hennekam lymphangiectasia-lymphedema syndrome 2, Autosomal recessive;Van Maldergem syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.945	P	0.582	P	0.114	U	1.000	D	1.09	L	0.81	T	-1.052	T	0.133	T	0.436	2.908	15.69	5.81	2.746	5.234	15.745	0.097	0.0097811890529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.14497	T	0.003	0.76473	D	0.92	0.51019	P	0.582	0.50238	P	0.114002	0.19292	U	0.268989	0.999641	0.48019	D	0.985	0.24966	L	0.81	0.48460	T	-1.49	0.38540	N	0.429	0.49237	-1.0516	0.13954	T	0.133	0.44661	T	10	0.27152833	0.44691	T	0.009781	0.25518	T	0.097	0.27909	0.436	0.48828	0.260580752073	0.25663	0.4072337811848174	0.40639	0.350990176469	0.36944	0.44729244709	0.31575	T	0.079482	0.36140	T	-0.0856307	0.38796	T	-0.360779	0.37964	T	0.53413745406617	0.33887	D	0.89801	0.64352	D	0.09152507	0.21449	0.10410685	0.24996	0.09152507	0.21449	0.10410685	0.24995	-4.692	0.33307	T	.	.	0.084	0.09723	B	.;.	.;.	2.974956	0.39663	21.0	0.99778197859703555	0.86519	0.95142	0.63592	D	AEFBI	0.434717	0.49565	N	0.334696669842401	0.57937	3.963259	0.445197975597489	0.64409	4.695434	0.868095149753161	0.25359	0.706548	0.73137	0	0.573888	0.26702	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.81	5.81	0.92413	5.329000	0.65670	9.921000	0.82504	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:0.8554:0.1446	15.745	0.77702	922	0.19044	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1896.98	144	chr4	125450146	.	G	A	1896.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.425e+00;DP=2583;ExcessHet=0.0000;FS=0.588;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=-1.903e+00;SOR=0.614	GT:AD:DP:GQ:PL	0/0:123,0:123:99:0,120,1800	20	0	1	0
chr4	125451034	125451034	A	C	exonic	FAT4	.	nonsynonymous SNV	FAT4:NM_001291285:exon10:c.A10024C:p.N3342H	Hennekam lymphangiectasia-lymphedema syndrome 2, Autosomal recessive;Van Maldergem syndrome 2, Autosomal recessive	.	416	1104	2	0	0	2	0.000904977	.	.	1190153	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.963	D	0.663	P	0.003	U	1.000	N	-0.08	N	0.72	T	-1.057	T	0.078	T	0.192	1.389	10.57	1.75	0.357	3.695	5.619	0.136	0.0296691248183	.	.	4.128e-05	9.748e-05	8.643e-05	0	0	4.501e-05	0	0	3.88e-05	6	154602	rs772182074	5.199e-05	5.199e-05	5.581e-05	4.813e-05	0.0017	4.258e-05	3.888e-05	0.0009	0.0007	0	0.0001	3.826e-05	0	0	0.0017	4.766e-05	4.968e-05	4.637e-05	6.574e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.011	0.55530	D	0.023	0.57104	D	0.948	0.53620	P	0.663	0.52893	P	0.002537	0.36389	U	0.000000	0.999997	0.08975	N	0.385	0.12166	N	0.72	0.50976	T	-2.18	0.49187	N	0.32	0.40364	-1.0572	0.12465	T	0.078	0.30982	T	10	0.2959405	0.47161	T	0.029669	0.52133	D	0.136	0.36778	0.641	0.77795	0.265735104816	0.26182	0.2442197253378193	0.24335	0.419640191628	0.42511	0.276857018471	0.07059	T	0.341067	0.71001	T	-0.29266	0.09371	T	-0.476634	0.24805	T	0.25275182723999	0.22996	T	0.836716	0.50835	T	0.05806631	0.11635	0.054728124	0.09468	0.05806631	0.11634	0.054728124	0.09468	-5.673	0.44163	T	.	.	0.080	0.07650	B	.;.	.;.	2.517420	0.32523	19.07	0.9901376813529299	0.50420	0.66562	0.33122	D	AEFBI	0.215979	0.34128	N	-0.264004418281061	0.30547	1.704391	-0.329957664756686	0.27136	1.503672	0.0125812159060634	0.12348	0.706548	0.73137	0	0.573888	0.26702	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.42	1.75	0.23707	3.696000	0.54489	1.245000	0.25132	0.756000	0.94297	0.632000	0.28016	0.000000	0.08366	0.500000	0.29017	0.685:0.1539:0.1611:0.0	5.619	0.16729	922	0.19044	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	2378.98	144	chr4	125451034	.	A	C	2378.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.83;DP=2398;ExcessHet=0.0000;FS=2.666;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=-6.690e-01;SOR=0.947	GT:AD:DP:GQ:PL	0/0:123,0:123:99:0,120,1800	20	0	1	0
chr4	127704250	127704250	G	C	exonic	INTU	.	nonsynonymous SNV	INTU:NM_015693:exon10:c.G1526C:p.R509T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	2.28	M	1.53	T	-0.710	T	0.210	T	0.865	4.782	26.9	5.14	2.672	9.131	18.401	0.586	0.028113303493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.057e-06	2.052e-06	0	4.136e-06	2.702e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.702e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.74	0.80084	M	1.53	0.30401	T	-4.06	0.74582	D	0.921	0.92433	-0.7100	0.59952	T	0.210	0.56933	T	10	0.910342	0.90399	D	0.028113	0.50841	D	0.586	0.83416	0.685	0.82271	0.675445021942	0.67269	0.7804156638025578	0.77992	0.662293056713	0.58963	0.714659333229	0.69269	T	0.849206	0.96552	D	0.208191	0.74660	D	0.0612757	0.74330	D	0.997202515602112	0.91010	D	0.935406	0.75832	D	0.54776746	0.69831	0.38335246	0.63301	0.54776746	0.69832	0.38335246	0.63301	-13.879	0.92657	D	0.7325577997116286	0.81429	0.848	0.79668	P	.	.	4.810719	0.78262	26.9	0.98569775045103225	0.43089	0.99344	0.94786	D	AEFI	0.872518	0.79441	D	0.873817251556548	0.90420	10.396	0.84368298210705	0.92643	11.54514	0.999999617710239	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.14	5.14	0.70008	9.249000	0.94640	11.731000	0.94998	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.401	0.90461	897	0.25382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	208.91	41	chr4	127704250	.	G	C	208.91	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.952e+00;DP=972;ExcessHet=0.6776;FS=194.263;InbreedingCoeff=-0.1052;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.89;ReadPosRankSum=0.184;SOR=8.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1073	17	0	4	0
chr4	127704251	127704251	G	C	exonic	INTU	.	nonsynonymous SNV	INTU:NM_015693:exon10:c.G1527C:p.R509S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.28	M	1.53	T	-0.921	T	0.161	T	0.943	3.733	18.96	1.26	-0.003	2.018	9.093	0.422	0.0294672289301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.861e-07	6.84e-07	0	1.38e-06	2.522e-05	0	0	.	.	0	0	0	2.522e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.74	0.80084	M	1.53	0.30401	T	-3.69	0.70432	D	0.946	0.95374	-0.9212	0.45390	T	0.161	0.49581	T	10	0.8873946	0.88071	D	0.029467	0.51971	D	0.422	0.73078	0.632	0.76810	0.600287769981	0.59710	0.7881439270302629	0.78766	0.561931678665	0.52692	0.684287190437	0.64885	T	0.802902	0.94994	D	0.206707	0.74521	D	0.0591445	0.74188	D	0.99298083782196	0.83620	D	0.931307	0.74459	D	0.6339207	0.74507	0.4426484	0.67508	0.6339207	0.74508	0.4426484	0.67508	-12.454	0.86992	D	0.7346386116156443	0.81645	0.919	0.84130	P	.	.	3.328126	0.45808	22.2	0.99730259453219516	0.82690	0.92757	0.56471	D	AEFI	0.467728	0.51483	N	0.374202189461738	0.60026	4.18743	0.274963314411494	0.54081	3.574282	3.07637346592026E-5	0.03498	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.14	1.26	0.20534	2.073000	0.41144	2.000000	0.30117	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.553:0.0:0.447:0.0	9.093	0.35784	897	0.25382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.125	374.38	39	chr4	127704251	.	G	C	374.38	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-1.953e+00;DP=1018;ExcessHet=1.1607;FS=220.307;InbreedingCoeff=-0.1538;MLEAC=5;MLEAF=0.125;MQ=60.00;MQRankSum=0.00;QD=1.03;ReadPosRankSum=0.794;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:27,0:27:63:.:.:0,63,719	15	0	5	1
chr4	128077953	128077953	C	T	exonic	LARP1B	.	nonsynonymous SNV	LARP1B:NM_001278604:exon4:c.C208T:p.R70C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.992	D	0.002	N	1.000	D	1.735	L	1.78	T	-0.901	T	0.154	T	0.513	2.520	14.38	-3.15	-0.485	0.822	1.821	0.104	0.0186906797683	.	.	1.66e-05	9.656e-05	0	0	0	1.51e-05	0	0	1.29e-05	2	154602	rs760387513	1.974e-05	2.121e-05	2.241e-05	1.704e-05	3.18e-05	1.369e-05	1.179e-05	1.399e-05	1.169e-05	3.18e-05	2.8e-05	0	0	0	0	2.102e-05	5.129e-05	0	4.602e-05	4.597e-05	7.711e-05	1.346e-05	0.0002	2.11e-05	1.527e-05	5.291e-05	2.837e-05	2.414e-05	0	0.0002	0	0	0	0	4.41e-05	0	0	0.0	0.91255	D	0.002	0.83351	D	1.0	0.90584	D	0.912	0.80445	D	0.001709	0.38216	N	0.215683	0.964655	0.50061	D	2.38	0.68558	M	1.78	0.49642	T	-4.37	0.79998	D	0.484	0.53796	-0.9014	0.47846	T	0.154	0.48498	T	10	0.24465543	0.41700	T	0.018691	0.40835	T	0.185	0.45933	.	.	0.401185642668	0.39728	0.2590669661444351	0.25820	0.742370381414	0.63329	0.683520197868	0.64775	T	0.055063	0.36627	T	-0.157977	0.27072	T	-0.280683	0.46735	T	0.973253726959229	0.70022	D	0.963904	0.87464	D	0.2587261	0.48922	0.1490309	0.35204	0.2587261	0.48922	0.1490309	0.35203	-11.468	0.88406	D	.	.	0.235	0.57884	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.548127	0.92026	32	0.99765642088297124	0.85417	0.39605	0.26250	N	AEFBI	0.334718	0.43339	N	-0.445704214074863	0.23886	1.285873	-0.573047012529577	0.20196	1.087057	0.00556065081244477	0.10975	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	3.88	-3.15	0.04912	1.140000	0.31128	-0.062000	0.12412	0.539000	0.25131	0.994000	0.38300	0.000000	0.08366	0.264000	0.23619	0.4904:0.2198:0.1134:0.1764	1.821	0.02922	860	0.33753	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	888.98	35	chr4	128077953	.	C	T	888.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.620e+00;DP=776;ExcessHet=0.0000;FS=0.847;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.71;ReadPosRankSum=-1.153e+00;SOR=0.880	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1201	20	0	1	0
chr4	128272421	128272421	A	G	exonic	PGRMC2	.	nonsynonymous SNV	PGRMC2:NM_006320:exon2:c.T515C:p.L172P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	4.08	H	-1.24	T	0.818	D	0.758	D	0.948	4.331	22.8	4.96	2.083	8.420	14.791	0.938	0.389992908171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.95e-07	3.42e-06	1.383e-06	0	9.076e-07	0	0	.	.	0	0	0	0	0	0	9.076e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.275	0.98156	H	-1.24	0.78967	T	-6.13	0.90100	D	0.975	0.98563	0.818	0.94630	D	0.758	0.91753	D	10	0.92150235	0.91503	D	0.389993	0.93166	D	0.938	0.98636	0.716	0.85141	0.979537770849	0.97931	0.9816803928534611	0.98160	2.22499519009	0.95887	0.858329415321	0.90864	D	0.73604	0.92650	D	0.451241	0.92536	D	0.410	0.92443	D	0.999816119670868	0.99146	D	0.964804	0.86967	D	0.946707	0.95930	0.9258574	0.96807	0.946707	0.95930	0.9258574	0.96808	-11.997	0.86276	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	4.391557	0.67780	25.1	0.99922659335074959	0.98852	0.99035	0.90275	D	AEFBI	0.963309	0.98517	D	0.973588556116703	0.94874	13.11236	0.863417675253139	0.93773	12.27152	0.999999999979601	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	4.96	4.96	0.65153	8.608000	0.90676	11.046000	0.85237	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	14.791	0.69471	845	0.36510	.;Cytochrome b5-like heme/steroid binding domain|Cytochrome b5-like heme/steroid binding domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	143.98	34	chr4	128272421	.	A	G	143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.310e+00;DP=822;ExcessHet=0.0000;FS=72.953;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.13;ReadPosRankSum=2.64;SOR=5.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1109	20	0	1	0
chr4	128272425	128272425	C	T	exonic	PGRMC2	.	nonsynonymous SNV	PGRMC2:NM_006320:exon2:c.G511A:p.D171N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.997	D	0.000	D	1.000	D	2.72	M	-1.16	T	0.437	D	0.670	D	0.266	5.295	34	4.96	2.578	7.039	18.394	0.687	0.144165496498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.007	0.76473	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.865	0.83145	M	-1.16	0.78082	T	-4.49	0.78046	D	0.823	0.81857	0.437	0.89646	D	0.670	0.88564	D	10	0.80763197	0.80083	D	0.144165	0.82644	D	0.687	0.88585	0.568	0.69034	0.984673971449	0.98450	0.8766725506624653	0.87634	1.74234144677	0.90877	0.819935142994	0.85017	D	0.690469	0.90995	D	0.0640723	0.60121	T	-0.145741	0.59619	T	0.994382977485657	0.85642	D	0.963304	0.87416	D	0.7020724	0.78170	0.6033157	0.76947	0.7020724	0.78171	0.6033157	0.76948	-8.778	0.66485	D	.	.	0.953	0.87181	P	.;.;.;.	.;.;.;.	5.153366	0.86327	28.9	0.99926691055734718	0.99103	0.98511	0.83558	D	AEFBI	0.825998	0.74557	D	0.834872037855927	0.88231	9.50117	0.780529470324524	0.88408	9.570917	0.99999999999997	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	4.96	4.96	0.65153	7.286000	0.78031	7.559000	0.60438	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	18.394	0.90437	845	0.36510	.;Cytochrome b5-like heme/steroid binding domain|Cytochrome b5-like heme/steroid binding domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	147.03	41	chr4	128272425	.	C	T	147.03	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.362e+00;DP=1148;ExcessHet=0.0000;FS=121.708;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.17;ReadPosRankSum=3.03;SOR=6.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:73,0:73:94:.:.:0,94,1610	20	0	1	0
chr4	128959662	128959662	C	G	exonic	SCLT1	.	nonsynonymous SNV	SCLT1:NM_144643:exon12:c.G985C:p.A329P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.999	D	0.000	D	1.000	D	2.095	M	2.91	T	-1.125	T	0.084	T	0.933	3.123	16.44	5.05	2.337	5.625	18.047	0.238	0.0271346558209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	2.052e-06	1.363e-06	0	9.003e-07	0	0	.	.	0	0	0	0	0	0	9.003e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.019	0.59159	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.89	0.83701	M	2.91	0.10008	T	-2.83	0.59710	D	0.898	0.89800	-1.1254	0.02016	T	0.084	0.32872	T	9	0.78856647	0.78460	D	0.027135	0.49983	D	0.238	0.54217	0.274	0.22528	0.546693616777	0.54325	0.751990389580637	0.75146	0.460371396877	0.45595	0.490226864815	0.37469	T	0.433536	0.78093	T	0.196568	0.73572	D	0.04458	0.73228	D	0.985214054584503	0.76274	D	0.80302	0.45008	T	0.81712574	0.85026	0.7704095	0.86444	0.81712574	0.85028	0.7704095	0.86445	-15.801	0.97448	D	.	.	0.912	0.83630	P	.	.	3.845978	0.55678	23.6	0.99800040371157073	0.88461	0.95766	0.66063	D	AEFBI	0.751646	0.69239	D	0.530553789898404	0.68905	5.282067	0.462705299233699	0.65537	4.836318	0.999999780221931	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.05	5.05	0.67566	5.803000	0.68791	5.745000	0.49595	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.010000	0.09038	0.0:1.0:0.0:0.0	18.047	0.89261	459	0.78817	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02632	75.01	34	chr4	128959662	.	C	G	75.01	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-9.240e-01;DP=1402;ExcessHet=0.0000;FS=167.321;InbreedingCoeff=-0.0618;MLEAC=1;MLEAF=0.026;MQ=60.00;MQRankSum=0.00;QD=0.59;ReadPosRankSum=1.74;SOR=7.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1182	18	0	1	2
chr4	128959663	128959663	C	G	exonic	SCLT1	.	nonsynonymous SNV	SCLT1:NM_144643:exon12:c.G984C:p.E328D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	B	0.074	B	0.000	D	1.000	D	1.7	L	3.0	T	-1.025	T	0.023	T	0.102	0.717	7.817	1.14	0.028	0.314	4.321	0.067	0.00680759020067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.17643	T	0.136	0.34009	T	0.085	0.24868	B	0.074	0.28220	B	0.000007	0.62929	D	0.105878	0.998181	0.81001	D	2.11	0.58565	M	3.0	0.09167	T	-1.1	0.28497	N	0.081	0.05670	-1.0248	0.22148	T	0.023	0.09650	T	9	0.04894221	0.04413	T	0.006808	0.18010	T	0.067	0.19503	0.342	0.33464	0.32580497728	0.32196	0.0783725683417193	0.07773	0.237752420551	0.26321	0.414651274681	0.27100	T	0.028078	0.20418	T	-0.298842	0.08770	T	-0.667042	0.07799	T	0.358061403036118	0.27333	T	0.678032	0.28700	T	0.069728285	0.15302	0.06307916	0.12441	0.069728285	0.15301	0.06307916	0.12441	-3.703	0.19363	T	.	.	0.122	0.25429	B	.	.	0.508506	0.08773	5.551	0.98789090798183143	0.46253	0.58481	0.30653	D	AEFBI	0.120065	0.23406	N	-0.476882436029218	0.22841	1.222388	-0.433494643259965	0.24021	1.313097	0.277278108199118	0.18952	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.05	1.14	0.19817	0.372000	0.20199	0.053000	0.14027	0.549000	0.26987	0.999000	0.42656	0.959000	0.29258	0.011000	0.09372	0.2474:0.1746:0.0:0.578	4.321	0.10457	459	0.78817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	45.33	34	chr4	128959663	.	C	G	45.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-3.013e+00;DP=935;ExcessHet=0.0000;FS=62.461;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=0.36;ReadPosRankSum=-8.020e-01;SOR=5.890	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1182	19	0	1	1
chr4	134199956	134199956	C	T	exonic	PABPC4L	.	nonsynonymous SNV	PABPC4L:NM_001114734:exon2:c.G1064A:p.R355H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0226665779072	0.0004	0.000399361	0.0001	0.0009	0	0	0	0	0	0	2.59e-05	4	154602	rs373992035	1.929e-05	2.052e-05	1.833e-05	2.028e-05	0.0005	1.321e-05	1.133e-05	0.0003	0.0002	0.0005	0.0003	0	0	0	0	9.268e-07	1.724e-05	0	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0	0.0002	0	0	0	0	1.47e-05	0	0	.	.	.	0.224	0.25591	T	0.998	0.73220	D	0.88	0.62516	P	.	.	.	.	0.991522	0.41409	D	0.285	0.10073	N	2.32	0.16640	T	.	.	.	0.199	0.21969	.	.	.	.	.	.	.	0.05079794	0.04867	T	0.022667	0.45580	T	.	.	.	.	0.51469891142	0.51112	0.6826217229310281	0.68201	.	.	0.299932777882	0.10391	T	0.027708	0.20231	T	-0.407889	0.02053	T	-0.442953	0.28477	T	.	.	.	0.886911	0.61435	D	0.039127454	0.05343	0.10066907	0.24077	0.039127454	0.05343	0.10066907	0.24077	-5.902	0.45453	T	.	.	0.091	0.13080	B	.	.	3.358538	0.46356	22.3	0.7332315674579476	0.10286	0.91001	0.52667	D	AEFDBI	0.409572	0.48080	N	.	.	.	.	.	.	0.999999733153597	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.18	2.46	0.29032	3.201000	0.50761	-0.019000	0.12951	-0.285000	0.06363	0.995000	0.38783	0.000000	0.08366	0.848000	0.40082	0.0:0.8086:0.0:0.1914	8.564	0.32688	921	0.19240	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2812	729.72	57	chr4	134199956	.	C	T	729.72	.	AC=9;AF=0.281;AN=32;BaseQRankSum=-2.043e+00;DP=1459;ExcessHet=4.7172;FS=120.348;InbreedingCoeff=-0.3900;MLEAC=11;MLEAF=0.344;MQ=60.00;MQRankSum=0.00;QD=1.10;ReadPosRankSum=-2.920e-01;SOR=8.830	GT:AD:DP:GQ:PL	0/0:86,0:86:7:0,7,1395	7	0	9	5
chr4	134200395	134200395	C	G	exonic	PABPC4L	.	nonsynonymous SNV	PABPC4L:NM_001114734:exon2:c.G625C:p.V209L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0763880608207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.011	0.15914	B	0.019	0.18783	B	.	.	.	.	1	0.08975	N	-0.54	0.02511	N	-1.99	0.85320	D	.	.	.	0.043	0.01577	.	.	.	.	.	.	.	0.047787547	0.04144	T	0.076388	0.72520	D	.	.	.	.	0.886996762563	0.88588	0.2895462314696616	0.28867	.	.	0.353734135628	0.18471	T	0.002578	0.01964	T	-0.13623	0.30492	T	-0.433461	0.29544	T	.	.	.	0.812919	0.46506	T	0.029770393	0.02527	0.09160769	0.21547	0.029770393	0.02526	0.09160769	0.21546	-2.251	0.04295	T	.	.	0.101	0.17402	B	.	.	0.072384	0.04805	1.413	0.78418176329880218	0.12292	0.02313	0.06637	N	AEFDBI	0.081983	0.16595	N	.	.	.	.	.	.	0.997287692517554	0.35456	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.18	-0.609	0.11026	-0.371000	0.07569	-1.799000	0.04705	-0.262000	0.06890	0.000000	0.06391	0.000000	0.08366	0.525000	0.29590	0.1598:0.3182:0.1558:0.3663	0.873	0.01141	921	0.19240	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	140.02	148	chr4	134200395	.	C	G	140.02	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-6.021e+00;DP=2662;ExcessHet=0.3300;FS=188.251;InbreedingCoeff=-0.0749;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.23;ReadPosRankSum=1.83;SOR=10.021	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	3	0
chr4	138223241	138223241	T	C	exonic	SLC7A11	.	nonsynonymous SNV	SLC7A11:NM_014331:exon4:c.A604G:p.I202V,	.	.	428	1069	25	0	0	25	0.011558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.418	B	0.304	B	0.000	D	1.000	D	1.225	L	-2.68	D	0.041	D	0.481	T	0.478	3.184	16.66	5.57	2.117	5.316	15.726	0.406	.	0.0080	0.00439297	0.0089	0.0014	0.0055	0	0.0070	0.0131	0.0088	0.0042	0.0086804	1342	154602	rs111500641	0.0097	0.0097	0.0096	0.0098	0.0114	0.0096	0.0095	0.0102	0.0102	0.0010	0.0061	0.0345	2.52e-05	0.0065	0.0114	0.0104	0.0104	0.0042	0.0078	0.0078	0.0082	0.0074	0.0109	0.0074	0.0073	0.0102	0.0100	0.0017	0	0.0081	0.0383	0	0.0062	0.0238	0.0109	0.0099	0.0048	0.002	0.72154	D	0.006	0.70582	D	0.418	0.35279	B	0.304	0.41178	B	0.000004	0.62929	D	0.078407	0.999564	0.47592	D	1.21	0.30464	L	-2.68	0.90391	D	-0.97	0.25770	N	0.802	0.79792	0.041	0.83065	D	0.481	0.80175	T	10	0.010551393	0.00234	T	.	.	.	0.406	0.71869	.	.	0.687896883233	0.68522	0.5049593626412712	0.50417	0.281763093226	0.30648	0.63954025507	0.58498	T	0.454831	0.79422	T	-0.189567	0.22322	T	-0.0346882	0.68056	D	0.0264413687447743	0.01466	T	0.884712	0.60854	D	0.3489142	0.56982	0.28546408	0.54549	0.3489142	0.56982	0.28546408	0.54548	-4.733	0.33801	T	.	.	0.125	0.26482	B	.	.	3.174172	0.43060	21.7	0.99684746465731477	0.79507	0.92448	0.55735	D	AEFDBCIJ	0.650362	0.62450	D	0.223736691890772	0.52351	3.409849	0.353894292728746	0.58743	4.04672	0.999999999991661	0.74766	0.730579	0.87903	0	0.708844	0.79440	0	0.459711	0.06710	0	0.648885	0.59868	0	.	.	5.57	5.57	0.84021	6.696000	0.74423	7.671000	0.64778	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.726	0.77519	954	0.10045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	940.98	35	chr4	138223241	.	T	C	940.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.332;DP=758;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.25;ReadPosRankSum=-7.170e-01;SOR=0.743	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1066	20	0	1	0
chr4	139071944	139071944	T	C	exonic	ELF2	.	nonsynonymous SNV	ELF2:NM_001276457:exon3:c.A268G:p.T90A	.	.	454	1060	6	2	0	10	0.00469484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	B	0.026	B	0.000	D	1.000	D	0.255	N	2.88	T	-1.003	T	0.025	T	0.325	2.106	13.00	5.87	2.371	4.285	12.407	0.057	0.00824658575127	0.0017	0.000399361	0.0013	9.61e-05	0.0008	0.0001	0.0009	0.0016	0.0022	0.0015	0.0011578	179	154602	rs146233495	0.0011	0.0011	0.0010	0.0011	0.0066	0.0010	0.0010	0.0049	0.0044	0.0002	0.0015	0.0058	0	0.0012	0.0066	0.0010	0.0016	0.0011	0.0010	0.0010	0.0011	0.0010	0.0012	0.0009	0.0009	0.0010	0.0009	0.0002	0	0.0012	0.0055	0.0002	0.0015	0.0068	0.0012	0.0024	0.0012	0.23	0.25560	T	0.507	0.10930	T	0.031	0.20130	B	0.026	0.20792	B	0.000000	0.84330	D	0.045696	0.999205	0.48079	D	1.095	0.27400	L	2.87	0.15376	T	-1.91	0.44471	N	0.194	0.28028	-1.0032	0.28992	T	0.025	0.10643	T	9	0.00868234	0.00197	T	0.008247	0.21853	T	0.057	0.16321	.	.	0.38058745637	0.37675	0.3834123978915665	0.38256	0.353098606377	0.37124	0.600565314293	0.52984	T	0.043746	0.26598	T	-0.487595	0.00670	T	-0.470839	0.25425	T	0.0136714726376095	0.00255	T	0.821218	0.48050	T	0.23002402	0.45750	0.10494853	0.25217	0.23002402	0.45750	0.10494853	0.25217	-3.81	0.22182	T	0.450391610052816	0.53430	0.513	0.65497	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.089190	0.41587	21.4	0.97264002051389442	0.33102	0.98406	0.82449	D	AEFBI	0.485034	0.52480	N	-0.0982246818786425	0.37468	2.180398	0.14168004404787	0.46703	2.912016	0.999999701500362	0.74766	0.732398	0.92422	0	0.723133	0.82719	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.87	5.87	0.94266	4.248000	0.58549	7.924000	0.74674	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.898000	0.43474	0.0:0.0671:0.0:0.9329	12.407	0.54779	646	0.63441	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	642.98	34	chr4	139071944	.	T	C	642.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.550e-01;DP=781;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.32;ReadPosRankSum=-2.127e+00;SOR=0.674	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr4	139719756	139719756	G	A	exonic	MAML3	.	nonsynonymous SNV	MAML3:NM_018717:exon5:c.C2984T:p.P995L,	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.943	P	0.267	B	0.000	D	1.000	D	1.495	L	1.88	T	-1.069	T	0.044	T	0.797	0.664	7.560	4.0	1.139	6.082	14.890	0.233	0.0140511211993	.	0.00119808	0.0002	0	0.0002	0.0011	0	0.0001	0	0.0004	0.000207	32	154602	rs185593153	0.0001	0.0001	0.0001	0.0001	0.0010	0.0001	0.0001	0.0008	0.0007	0	6.71e-05	7.653e-05	0.0010	0	0.0005	8.994e-05	0.0003	0.0002	0.0001	0.0001	0.0001	0.0001	0.0015	9.141e-05	7.697e-05	0.0008	0.0006	0	0	6.533e-05	0	0.0015	0	0	7.35e-05	0	0.0014	0.319	0.13610	T	0.057	0.46406	T	.	.	.	.	.	.	0.000017	0.62929	D	0.067334	1	0.81001	D	.	.	.	1.88	0.23884	T	-1.83	0.42957	N	0.581	0.60241	-1.0689	0.09657	T	0.044	0.19070	T	10	0.02591914	0.00772	T	0.014051	0.33902	T	0.233	0.53499	.	.	0.354822389136	0.35094	0.4773321474085681	0.47653	0.595511303939	0.54823	0.720179080963	0.70072	T	0.358814	0.72531	T	-0.239519	0.15411	T	-0.174604	0.57021	T	0.0632406426787925	0.07669	T	0.90041	0.65400	D	0.15150985	0.34439	0.160812	0.37438	0.15150985	0.34439	0.160812	0.37437	-6.71	0.51886	T	.	.	0.226	0.45835	B	.	.	3.884962	0.56491	23.7	0.88157637700104319	0.17760	0.91275	0.53206	D	AEFDGBHCI	0.692993	0.65247	D	0.099823655313912	0.46455	2.885516	0.165676764105981	0.47978	3.020167	0.999999999208606	0.74766	0.562547	0.31514	0	0.547309	0.14657	0	0.566861	0.19136	0	0.635551	0.53088	0	.	.	4.86	4.0	0.45673	6.451000	0.73398	7.470000	0.59142	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8559:0.1441	14.890	0.70247	947	0.11584	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2146.98	34	chr4	139719756	.	G	A	2146.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.88;DP=897;ExcessHet=0.0000;FS=5.683;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.17;ReadPosRankSum=1.13;SOR=0.403	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1278	20	0	1	0
chr4	139730437	139730439	CTG	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon3:c.2308_2310del:p.Q772del,	.	.	0	0	0	225	1	451	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	76395.26	66	chr4	139730430	.	TCTGCTGCTG	TCTGCTG,T	76395.26	.	AC=41,1;AF=0.976,0.024;AN=42;BaseQRankSum=-1.573e+00;DP=1994;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;MQRankSum=0.00;QD=28.49;ReadPosRankSum=0.778;SOR=0.141	GT:AD:DP:GQ:PL	1/1:0,101,0:103:99:4530,304,0,4547,319,4635	0	20	0	0
chr4	139730431	139730439	CTGCTGCTG	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon3:c.2308_2316del:p.Q770_Q772del,	.	.	0	0	0	225	1	451	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0003	0	0	1.94e-05	3	154602	rs760330670	0.0001	0.0002	0.0001	0.0001	0.0001	9.839e-05	9.263e-05	0.0001	0.0001	0.0001	0	0	0	0	0	0.0001	5.542e-05	4.047e-05	0.0001	0.0001	0.0002	0.0001	0.0002	9.181e-05	7.731e-05	0.0001	0.0001	0.0001	0	0	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	76395.26	66	chr4	139730430	.	TCTGCTGCTG	TCTGCTG,T	76395.26	.	AC=41,1;AF=0.976,0.024;AN=42;BaseQRankSum=-1.573e+00;DP=1994;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;MQRankSum=0.00;QD=28.49;ReadPosRankSum=0.778;SOR=0.141	GT:AD:DP:GQ:PL	1/1:0,101,0:103:99:4530,304,0,4547,319,4635	0	20	0	0
chr4	139889919	139889924	TGCTGC	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon2:c.1512_1517del:p.Q509_Q510del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	10519.75	95	chr4	139889909	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	10519.75	.	AC=3,2,3,1;AF=0.071,0.048,0.071,0.024;AN=42;BaseQRankSum=-8.600e-02;DP=2737;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=3,2,3,1;MLEAF=0.071,0.048,0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=1.23;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:109,0,0,0,0:109:99:.:.:0,120,1800,120,1800,1800,120,1800,1800,1800,120,1800,1800,1800,1800	12	0	3	0
chr4	139889910	139889924	TGCTGCTGCTGCTGC	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon2:c.1512_1526del:p.Q506_Q510del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369025793	0.0004	0.0005	0.0004	0.0004	0.0082	0.0004	0.0004	0.0063	0.0057	0.0029	0.0007	3.924e-05	0.0003	1.908e-05	0.0082	0.0003	0.0008	0.0002	0.0029	0.0029	0.0033	0.0025	0.0035	0.0025	0.0024	0.0025	0.0023	0.0029	0	0.0022	0	0.0026	0	0.0233	0.0035	0.0093	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	10519.75	95	chr4	139889909	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	10519.75	.	AC=3,2,3,1;AF=0.071,0.048,0.071,0.024;AN=42;BaseQRankSum=-8.600e-02;DP=2737;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=3,2,3,1;MLEAF=0.071,0.048,0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=1.23;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:109,0,0,0,0:109:99:.:.:0,120,1800,120,1800,1800,120,1800,1800,1800,120,1800,1800,1800,1800	12	0	3	0
chr4	139889922	139889924	TGC	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon2:c.1512_1514del:p.Q510del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	10519.75	95	chr4	139889909	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	10519.75	.	AC=3,2,3,1;AF=0.071,0.048,0.071,0.024;AN=42;BaseQRankSum=-8.600e-02;DP=2737;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=3,2,3,1;MLEAF=0.071,0.048,0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=1.23;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:109,0,0,0,0:109:99:.:.:0,120,1800,120,1800,1800,120,1800,1800,1800,120,1800,1800,1800,1800	12	0	3	0
chr4	139889924	139889924	-	TGC	exonic	MAML3	.	nonframeshift insertion	MAML3:NM_018717:exon2:c.1511_1512insGCA:p.Q510_H511insQ,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	10519.75	95	chr4	139889909	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	10519.75	.	AC=3,2,3,1;AF=0.071,0.048,0.071,0.024;AN=42;BaseQRankSum=-8.600e-02;DP=2737;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=3,2,3,1;MLEAF=0.071,0.048,0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=1.23;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:109,0,0,0,0:109:99:.:.:0,120,1800,120,1800,1800,120,1800,1800,1800,120,1800,1800,1800,1800	12	0	3	0
chr4	140389226	140389226	A	C	exonic	CLGN	.	stoploss	CLGN:NM_004362:exon15:c.T1831G:p.X611E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	2.458	14.18	5.22	2.089	7.692	15.390	.	.	.	.	8.281e-06	0	0	0	0	1.505e-05	0	0	3.84e-05	1	26028	rs746754021	2.056e-06	2.052e-06	2.728e-06	1.377e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	0	1.66e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.05	0.02179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0792294	0.39841	T	-0.351584	0.39022	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	2.058065	0.26169	17.02	0.81511834985883636	0.13722	0.99586	0.97719	D	AEFI	.	.	.	0.98929881636542	0.95405	13.58921	0.793887925018119	0.89363	9.944962	0.999981855595218	0.51787	0.162113	0.03585	0	0.195528	0.04277	0	0.175069	0.04249	0	0.101684	0.03063	0	0.94286	0.60513	5.22	5.22	0.72285	7.656000	0.82725	11.169000	0.87908	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.596000	0.31288	1.0:0.0:0.0:0.0	15.390	0.74458	449	0.79428	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	380.98	33	chr4	140389226	.	A	C	380.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.550e-01;DP=709;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.78;ReadPosRankSum=0.448;SOR=0.681	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1049	20	0	1	0
chr4	140464980	140464980	A	G	exonic	MGAT4D	.	nonsynonymous SNV	MGAT4D:NM_001277353:exon6:c.T602C:p.L201S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	.	.	.	.	.	.	1.000	D	.	.	0.45	T	-0.395	T	0.278	T	0.861	3.953	20.2	5.36	2.007	5.198	14.323	0.464	0.0615373783018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	0.917061	0.81001	D	.	.	.	0.45	0.56446	T	-5.46	0.86608	D	0.804	0.82057	-0.3953	0.72175	T	0.278	0.65027	T	6	0.9327965	0.92615	D	0.061537	0.68362	D	0.464	0.76023	0.815	0.92992	0.582701273649	0.57942	0.6558759089881145	0.65523	.	.	0.383704960346	0.22781	T	0.339967	0.70905	T	0.262189	0.79731	D	0.13884	0.79468	D	0.993910431861877	0.84922	D	0.620138	0.23804	T	0.6921496	0.77628	0.80953187	0.88871	0.6921496	0.77629	0.80953187	0.88871	-12.04	0.85045	D	.	.	0.850	0.84623	P	.;.;.	.;.;.	4.771992	0.77261	26.7	0.99866968982202131	0.94457	0.92451	0.55742	D	AEFBI	0.400452	0.47533	N	0.301820736202572	0.56242	3.788608	0.354710342508624	0.58793	4.052024	0.997157049480512	0.35326	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.36	5.36	0.76624	5.815000	0.68892	10.712000	0.83609	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	14.323	0.66060	711	0.56613	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	486.98	35	chr4	140464980	.	A	G	486.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=733;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.53;ReadPosRankSum=-6.810e-01;SOR=0.919	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1048	20	0	1	0
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.949	P	0.761	P	0.009	N	1.000	N	2.97	M	-1.23	T	-0.477	T	0.493	T	0.582	1.307	10.28	0.338	-0.014	1.889	3.693	0.377	0.0293953235492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.759e-05	0.0002	3.296e-05	2.218e-05	3.267e-05	2.08e-05	1.831e-05	2.392e-05	2.122e-05	3.018e-05	0	0	0	0	0	3.267e-05	1.667e-05	2.335e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.203	0.27325	T	0.949	0.53761	P	0.761	0.56482	P	0.008935	0.30598	N	0.367111	1	0.08975	N	3.205	0.89189	M	-1.23	0.78860	T	-2.05	0.47008	N	0.643	0.65501	-0.4766	0.69490	T	0.493	0.80757	T	10	0.76555115	0.76675	D	0.029395	0.51914	D	0.377	0.69527	0.425	0.47021	0.867737003841	0.86645	0.8997779227898309	0.89949	0.733378337434	0.62839	0.275326251984	0.06849	T	0.503659	0.82306	D	0.0583213	0.59402	T	-0.154002	0.58889	T	0.917825281620026	0.57582	D	0.40366	0.10339	T	0.28733265	0.51744	0.26873308	0.52745	0.28733265	0.51744	0.26873308	0.52744	-7.449	0.57250	T	.	.	0.826	0.78531	P	.	.	2.363669	0.30321	18.40	0.99216242249267406	0.55747	0.70984	0.34819	D	AEFBI	0.260905	0.37897	N	-0.150634784784455	0.35206	2.019386	-0.344403961495631	0.26682	1.475416	0.680793574183654	0.22476	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.22	0.338	0.15214	1.750000	0.37956	-0.150000	0.11428	-0.176000	0.10722	0.930000	0.32276	0.000000	0.08366	0.270000	0.23768	0.1804:0.289:0.0:0.5306	3.693	0.07887	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	8657.43	102	chr4	140563137	.	C	G	8657.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.013e+00;DP=2157;ExcessHet=43.6797;FS=230.561;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=4.52;ReadPosRankSum=-6.060e-01;SOR=13.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,44:106:99:0|1:140563137_C_G:689,0,1629:140563137	1	0	20	0
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.004	B	0.007	B	0.003	N	1.000	N	0.365	N	-1.27	T	-1.011	T	0.158	T	0.095	-1.272	0.044	-1.38	-0.574	-0.505	2.216	0.090	0.0146202776725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	2.052e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.05137	T	0.791	0.04181	T	0.004	0.12183	B	0.007	0.12992	B	0.003241	0.35241	N	0.324932	0.999999	0.08975	N	0.56	0.15190	N	-1.27	0.79277	T	-0.52	0.16187	N	0.133	0.12913	-1.0108	0.26666	T	0.158	0.49027	T	10	0.05424103	0.05744	T	0.01462	0.34856	T	0.090	0.26093	0.368	0.37687	0.494433119893	0.49078	0.5936266468194845	0.59292	0.149167586053	0.16817	0.271067947149	0.06281	T	0.121596	0.44467	T	-0.194226	0.21639	T	-0.516769	0.20622	T	0.0746878460049629	0.09294	T	0.60264	0.22576	T	0.06687306	0.14429	0.04191142	0.04870	0.06687306	0.14429	0.04191142	0.04870	-4.395	0.29489	T	.	.	0.106	0.19720	B	.	.	0.547365	0.09157	5.942	0.36715842428115708	0.02377	0.06566	0.12580	N	AEFBI	0.061408	0.11738	N	-1.30471918549485	0.03621	0.1620578	-1.29537821251235	0.04493	0.2120394	0.729658486604041	0.23029	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-1.38	0.08554	-1.260000	0.02967	-2.964000	0.03187	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.312000	0.24784	0.2442:0.2523:0.3582:0.1453	2.216	0.03717	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	8407.43	102	chr4	140563138	.	C	G	8407.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.724e+00;DP=2172;ExcessHet=43.6797;FS=230.605;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=4.60;ReadPosRankSum=-5.480e-01;SOR=12.975	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,44:106:99:0|1:140563137_C_G:689,0,1629:140563137	1	0	20	0
chr4	143186034	143186034	T	C	exonic	USP38	.	nonsynonymous SNV	USP38:NM_001290325:exon1:c.T584C:p.V195A	.	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.874	P	0.395	B	0.000	D	1.000	D	0.695	N	-0.18	T	-0.872	T	0.170	T	0.819	3.656	18.59	5.12	2.163	7.868	15.102	0.364	.	.	0.00658946	0.0029	0.0002	0	0	0	0	0.0011	0.0213	0.0026002	402	154602	rs61760235	0.0013	0.0013	0.0007	0.0019	0.0210	0.0013	0.0012	0.0202	0.0199	5.974e-05	2.236e-05	0	2.519e-05	0	0.0009	1.978e-05	0.0012	0.0210	0.0008	0.0008	0.0004	0.0012	0.0245	0.0007	0.0006	0.0209	0.0196	2.407e-05	0	6.535e-05	0	0.0004	0	0	0	0	0.0245	0.348	0.12386	T	0.298	0.20486	T	0.874	0.48047	P	0.395	0.44317	B	0.000001	0.62929	D	0.000000	1	0.81001	D	1.79	0.46772	L	-0.18	0.68181	T	-1.86	0.43524	N	0.575	0.62866	-0.8717	0.50401	T	0.170	0.51149	T	10	0.006545782	0.00148	T	.	.	.	0.364	0.68407	0.271	0.22052	0.782634291771	0.78062	0.6663086519030345	0.66568	0.363373720586	0.37968	0.711527645588	0.68814	T	0.063462	0.32181	T	-0.150534	0.28227	T	0.0272484	0.72100	D	0.0384476313676004	0.03411	T	0.666933	0.27600	T	0.5186442	0.68182	0.22596592	0.47558	0.5186442	0.68183	0.22596592	0.47557	-6.747	0.52745	T	.	.	0.683	0.72254	P	.;.	.;.	3.775237	0.54247	23.5	0.99698366845082997	0.80453	0.93657	0.58820	D	AEFGBCI	0.922362	0.89722	D	0.202199421100256	0.51306	3.312866	0.322579870917851	0.56869	3.851015	0.999999999999731	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.672317	0.60874	0	0.657601	0.63696	0	.	.	5.12	5.12	0.69459	7.835000	0.84986	7.854000	0.71106	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.102	0.71960	804	0.43891	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2401.98	33	chr4	143186034	.	T	C	2401.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.950e-01;DP=929;ExcessHet=0.0000;FS=0.998;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.93;ReadPosRankSum=-1.000e+00;SOR=0.616	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1202	20	0	1	0
chr4	143214872	143214872	A	G	exonic	USP38	.	nonsynonymous SNV	USP38:NM_001290325:exon9:c.A2896G:p.I966V	.	.	426	1086	10	0	0	10	0.00458295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.002	N	0.990	N	-1.78	N	3.32	T	-0.953	T	0.005	T	0.015	-1.065	0.178	5.0	1.406	1.786	12.481	0.099	0.00388176495288	7.7e-05	0.00219649	0.0013	0	0.0004	0	0.0002	0.0005	0.0022	0.0074	0.0011966	185	154602	rs34511898	0.0007	0.0007	0.0005	0.0009	0.0097	0.0006	0.0006	0.0077	0.0070	0.0002	0.0004	0	5.043e-05	0	0.0097	0.0003	0.0010	0.0063	0.0004	0.0004	0.0003	0.0005	0.0041	0.0003	0.0003	0.0027	0.0023	9.62e-05	0	0.0004	0	0	0	0.0034	0.0004	0.0014	0.0041	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.002323	0.36766	N	0.266852	0.990221	0.24198	N	-1.87	0.00254	N	3.3	0.06368	T	0.22	0.04694	N	0.034	0.00942	-0.9532	0.40416	T	0.005	0.01615	T	10	0.0028949678	0.00046	T	0.003882	0.09117	T	0.099	0.28413	.	.	0.208000267992	0.20380	0.07072708280217306	0.07009	0.100027882419	0.11303	0.287045925856	0.08494	T	0.018406	0.14841	T	-0.714274	0.00030	T	-0.795196	0.02025	T	0.00843170338910793	0.00102	T	0.679332	0.28809	T	0.031801905	0.03088	0.028243097	0.01043	0.031801905	0.03087	0.028243097	0.01043	-3.337	0.16812	T	.	.	0.064	0.01645	B	.;.	.;.	1.087629	0.14711	11.26	0.41531138822335889	0.03002	0.56177	0.30051	D	AEFBI	0.060810	0.11582	N	-0.659996962292792	0.17169	0.8812293	-0.332924558462829	0.27042	1.497827	0.987969778514954	0.31385	0.706548	0.73137	0	0.724815	0.89359	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.88	5.0	0.66209	1.853000	0.38998	3.928000	0.40516	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0837:0.0:0.9163:0.0	12.481	0.55184	825	0.40060	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1295.98	37	chr4	143214872	.	A	G	1295.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.351e+00;DP=1299;ExcessHet=0.0000;FS=4.553;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.80;ReadPosRankSum=-1.960e-01;SOR=0.385	GT:AD:DP:GQ:PL	0/0:78,0:78:99:0,120,1800	20	0	1	0
chr4	143697457	143697457	G	-	exonic	FREM3	.	frameshift deletion	FREM3:NM_001168235:exon1:c.3219delC:p.F1073Lfs*16,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.166e-06	2.052e-06	1.425e-06	2.927e-06	0.0002	5.8e-07	1.6e-07	.	.	0	0	0	0	0	0.0002	0	1.727e-05	1.262e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1751.94	90	chr4	143697456	.	CG	C	1751.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.72;DP=1943;ExcessHet=0.0000;FS=10.553;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.64;ReadPosRankSum=-3.027e+00;SOR=1.118	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:103,0:103:99:.:.:0,120,1800	20	0	1	0
chr4	143697457	143697457	G	0	exonic	FREM3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	94707.57	120	chr4	143697457	.	G	C,*	94707.57	.	AC=41,1;AF=0.976,0.024;AN=42;DP=2969;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;QD=32.86;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,148,0:148:99:.:.:4582,444,0,4582,444,4582	0	20	0	0
chr4	143697978	143697978	C	T	exonic	FREM3	.	nonsynonymous SNV	FREM3:NM_001168235:exon1:c.G2698A:p.V900I,	.	.	.	.	.	.	.	.	.	.	.	3250984	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.71	T	.	.	.	.	0.006	N	0.593	D	-0.035	N	1.39	T	-1.008	T	0.034	T	0.061	-0.004	3.992	1.36	0.038	-0.417	5.280	0.048	0.00772691413677	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1287081786	2.887e-06	2.736e-06	1.425e-06	4.389e-06	0.0002	6.8e-07	4.6e-07	.	.	0	0	0	0	0	0.0002	9.268e-07	3.447e-05	0	6.568e-06	6.562e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.515	0.07378	T	0.853	0.03477	T	.	.	.	.	.	.	0.005813	0.32491	N	0.246709	0.593175	0.32474	D	0.835	0.21042	L	1.39	0.33842	T	0.08	0.06026	N	0.031	0.00770	-1.0077	0.27634	T	0.034	0.14552	T	8	0.04080358	0.02679	T	0.007727	0.20510	T	0.048	0.13305	0.307	0.27806	0.0846915920261	0.08053	0.11635838323979175	0.11563	.	.	0.30161690712	0.10642	T	0.006424	0.05852	T	-0.344682	0.05070	T	-0.732888	0.04198	T	0.0291537570446211	0.01861	T	0.459554	0.13284	T	0.0207166	0.00640	0.022792123	0.00298	0.0207166	0.00640	0.022792123	0.00298	-3.497	0.16389	T	.	.	0.065	0.02012	B	.	.	0.415810	0.07864	4.565	0.78431631740621077	0.12298	0.08363	0.14302	N	AEFDBI	0.087093	0.17658	N	-0.545540321114246	0.20623	1.088568	-0.521491103802175	0.21570	1.167491	0.128573954751829	0.17043	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.33	1.36	0.21139	-0.517000	0.06360	-3.363000	0.02844	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.993000	0.69303	0.0:0.4827:0.3077:0.2096	5.280	0.14982	810	0.42761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2778.98	65	chr4	143697978	.	C	T	2778.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.681e+00;DP=1452;ExcessHet=0.0000;FS=1.179;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.79;ReadPosRankSum=-5.530e-01;SOR=0.587	GT:AD:DP:GQ:PL	0/0:71,0:71:99:0,120,1800	20	0	1	0
chr4	143699849	143699849	C	T	exonic	FREM3	.	nonsynonymous SNV	FREM3:NM_001168235:exon1:c.G827A:p.G276D,	.	.	406	1108	8	0	0	8	0.00359712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	.	.	.	.	0.416	N	1.000	N	0.455	N	2.09	T	-1.017	T	0.014	T	0.044	-0.484	1.773	-2.96	-0.848	0.512	5.010	0.014	.	0.0048	0.00379393	0.0027	0.0164	0.0051	0.0046	0.0021	0.0002	0	0.0022	0.0005821	90	154602	rs149219650	0.0009	0.0009	0.0009	0.0009	0.0148	0.0009	0.0008	0.0137	0.0133	0.0148	0.0012	0	0	0.0006	0.0091	0.0004	0.0015	0.0020	0.0043	0.0043	0.0044	0.0042	0.0140	0.0041	0.0039	0.0130	0.0126	0.0140	0	0.0017	0	0	0.0008	0.0034	0.0005	0.0038	0.0008	0.274	0.15823	T	0.442	0.13252	T	.	.	.	.	.	.	0.415924	0.04619	N	1.523810	1	0.08975	N	0.635	0.15989	N	2.09	0.20122	T	-1.34	0.33401	N	0.039	0.01274	-1.0169	0.24722	T	0.014	0.05513	T	8	0.003322959	0.00057	T	.	.	.	0.014	0.01968	.	.	0.0716867268079	0.06686	0.48528482341388735	0.48448	.	.	0.400290727615	0.25109	T	0.004599	0.04008	T	-0.698169	0.00037	T	-0.763971	0.02972	T	0.00202375306204244	0.00021	T	0.256074	0.03980	T	0.058401812	0.11744	0.10194784	0.24420	0.058401812	0.11744	0.10194784	0.24419	-4.535	0.31344	T	.	.	0.065	0.01810	B	.	.	0.253005	0.06321	2.781	0.76798391799292676	0.11613	0.03969	0.09378	N	AEFBCI	0.047292	0.07948	N	-1.0443728789965	0.07699	0.3585176	-1.19809405267896	0.05942	0.2845646	0.999024258173435	0.38237	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.05	-2.96	0.05212	1.251000	0.32465	-1.195000	0.06058	-0.176000	0.10722	0.007000	0.17678	0.000000	0.08366	0.001000	0.02609	0.0:0.2833:0.2957:0.421	5.010	0.13647	811	0.42639	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1998.98	64	chr4	143699849	.	C	T	1998.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.720e+00;DP=1355;ExcessHet=0.0000;FS=0.607;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=-9.580e-01;SOR=0.762	GT:AD:DP:GQ:PL	0/0:72,0:72:99:0,120,1800	20	0	1	0
chr4	144734742	144734742	C	T	exonic	HHIP	.	nonsynonymous SNV	HHIP:NM_022475:exon12:c.C1762T:p.P588S,	.	.	422	1093	7	0	0	7	0.00319197	0.6620	0.636	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.377	B	0.073	B	0.000	D	1.000	D	1.935	M	3.38	T	-1.087	T	0.023	T	0.263	4.306	22.6	5.21	1.575	5.749	15.095	0.127	0.0175110847862	7.7e-05	.	0.0003	0	8.669e-05	0	0.0002	0.0003	0	0.0013	0.0003105	48	154602	rs201997512	0.0002	0.0002	0.0002	0.0003	0.0050	0.0002	0.0002	0.0035	0.0030	0.0001	6.805e-05	0	0	3.796e-05	0.0050	0.0001	0.0004	0.0012	0.0002	0.0002	0.0001	0.0002	0.0015	0.0001	0.0001	0.0007	0.0005	9.629e-05	0	0.0001	0	0	0	0.0034	0.0002	0.0005	0.0015	0.154	0.24277	T	0.057	0.46406	T	0.377	0.34270	B	0.073	0.28123	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.955	0.52871	M	3.38	0.05778	T	-0.59	0.17624	N	0.455	0.49237	-1.0874	0.05978	T	0.023	0.09650	T	10	0.04935059	0.04511	T	0.017511	0.39237	T	0.127	0.34888	.	.	0.184605227958	0.18053	0.6301005949279682	0.62944	0.213602836398	0.23874	0.558486282825	0.47054	T	0.124724	0.44995	T	-0.461432	0.00963	T	-0.486032	0.23808	T	0.024490787006417	0.01207	T	0.933407	0.75038	D	0.3447048	0.56651	0.18329765	0.41311	0.3447048	0.56651	0.18329765	0.41310	-4.29	0.28037	T	.	.	0.196	0.41723	B	.	.	3.985731	0.58627	24.0	0.99881691966790742	0.95733	0.95880	0.66551	D	AEFDGBCIJ	0.771535	0.70614	D	0.183673156082811	0.50416	3.231722	0.300325785443623	0.55558	3.718835	0.99999999999773	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.48864	0.07692	0	0.711	0.71501	0	.	.	6.05	5.21	0.72005	5.827000	0.68989	3.304000	0.37407	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.910000	0.44547	0.0:0.9327:0.0:0.0673	15.095	0.71900	887	0.27948	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2399.98	45	chr4	144734742	.	C	T	2399.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.80;DP=973;ExcessHet=0.0000;FS=6.491;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.04;ReadPosRankSum=-2.130e+00;SOR=1.133	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr4	145870404	145870404	T	C	exonic	ZNF827	.	nonsynonymous SNV	ZNF827:NM_001306215:exon5:c.A1822G:p.T608A	.	.	433	1082	7	0	0	7	0.00322432	.	.	3361854	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.63	T	0.0	B	0.0	B	0.087	N	1.000	N	0	N	3.42	T	-0.923	T	0.007	T	0.04	-0.050	3.759	-0.743	0.107	0.604	3.996	0.011	0.00427768501054	0.0002	0.000199681	0.0003	0	0.0002	0	0	0.0002	0	0.0011	0.0002458	38	154602	rs143420805	0.0002	0.0002	0.0001	0.0003	0.0013	0.0002	0.0002	0.0011	0.0011	0	0.0002	0	0	1.872e-05	0.0010	0.0001	0.0003	0.0013	0.0002	0.0002	0.0001	0.0002	0.0015	0.0001	8.715e-05	0.0007	0.0005	0	0	0.0002	0	0	0	0	0.0002	0	0.0015	0.535	0.09836	T	0.002	0.79402	D	0.0	0.02946	B	0.0	0.01387	B	0.087031	0.20555	N	0.540054	1	0.08975	N	-0.345	0.03330	N	3.38	0.06291	T	-0.15	0.09297	N	0.111	0.10198	-0.9226	0.45196	T	0.007	0.02399	T	10	0.007955313	0.00181	T	0.004278	0.10373	T	0.011	0.01250	.	.	0.043077524339	0.03247	0.09548686569685717	0.09480	0.464639868286	0.45926	0.282848834991	0.07893	T	0.026276	0.19479	T	-0.692551	0.00040	T	-0.808111	0.01708	T	0.0107446096729269	0.00152	T	0.506149	0.16021	T	0.02191936	0.00821	0.019498346	0.00092	0.02191936	0.00821	0.019498346	0.00092	-3.53	0.16926	T	.	.	0.063	0.01534	B	.;.;.	.;.;.	0.533833	0.09024	5.807	0.52599763977462621	0.04778	0.18506	0.20288	N	AEFDGBHI	0.029784	0.02875	N	-1.1783017829962	0.05328	0.2426602	-1.09298666651606	0.07837	0.3828457	0.999987965621657	0.51787	0.706298	0.61202	0	0.696144	0.67643	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.14	-0.743	0.10545	0.666000	0.24779	-0.315000	0.10009	-0.884000	0.02433	0.998000	0.41325	0.000000	0.08366	0.058000	0.15825	0.3457:0.2475:0.0:0.4068	3.996	0.09050	245	0.90404	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1744.98	33	chr4	145870404	.	T	C	1744.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.275e+00;DP=837;ExcessHet=0.0000;FS=5.154;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=-3.290e-01;SOR=1.140	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1277	20	0	1	0
chr4	146230289	146230289	A	G	exonic	REELD1	.	nonsynonymous SNV	REELD1:NM_001371071:exon7:c.A1357G:p.T453A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0103834	.	.	.	.	.	.	.	.	0.0064162	167	26028	rs77205054	0.0046	0.0019	0.0048	0.0045	0.0395	0.0044	0.0043	0.0358	0.0344	0.0006	0.0395	0	0.0331	4.802e-05	0	0.0002	0.0034	0.0007	0.0031	0.0031	0.0029	0.0034	0.0207	0.0029	0.0028	0.0188	0.0181	0.0007	0	0.0207	0	0.0199	0	0	0.0001	0.0066	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0038356185	0.00072	T	.	.	.	.	.	.	.	.	.	0.08587838804973866	0.08521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239076	0.03406	T	0.037881546	0.04942	0.10580671	0.25442	0.037881546	0.04941	0.10580671	0.25442	-3.142	0.11785	T	.	.	0.077	0.06571	B	.	.	-0.182387	0.03181	0.522	0.66680353389787728	0.08130	0.01253	0.04406	N	AEFBI	.	.	.	.	.	.	.	.	.	0.98472601553049	0.30765	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.164407	0.28455	5.53	-5.34	0.02496	0.606000	0.23891	-0.134000	0.11587	-0.065000	0.16512	0.000000	0.06391	0.000000	0.08366	0.367000	0.26044	0.2792:0.1124:0.6084:0.0	12.043	0.52760	894	0.26265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09091	85.34	55	chr4	146230289	.	A	G	85.34	.	AC=2;AF=0.091;AN=22;DP=55;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3691;MLEAC=3;MLEAF=0.136;MQ=60.00;QD=21.33;SOR=0.693	GT:AD:DP:GQ:PL	./.	10	1	0	10
chr4	146639314	146639314	-	GGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGC:p.G68_R69insG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772231658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	0/1:25,14,0,0,0:39:99:412,0,876,488,918,1406,488,918,1406,1406,488,918,1406,1406,1406	0	10	4	0
chr4	146639314	146639314	-	GGCGGCGGCGGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGCGGCGGCGGC:p.G68_R69insGGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	0/1:25,14,0,0,0:39:99:412,0,876,488,918,1406,488,918,1406,1406,488,918,1406,1406,1406	0	10	4	0
chr4	146639314	146639314	-	GGCGGCGGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGCGGCGGC:p.G68_R69insGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	0/1:25,14,0,0,0:39:99:412,0,876,488,918,1406,488,918,1406,1406,488,918,1406,1406,1406	0	10	4	0
chr4	146640129	146640129	C	A	exonic	POU4F2	.	nonsynonymous SNV	POU4F2:NM_004575:exon2:c.C551A:p.P184Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.924	P	0.313	B	0.001	D	1.000	D	1.04	L	-1.46	T	-0.613	T	0.301	T	0.642	2.213	13.36	4.79	1.390	4.755	11.458	0.442	0.103857832961	.	.	4.228e-05	0	0	0	0	7.615e-05	0	0	2.59e-05	4	154602	rs772758327	2.351e-05	2.463e-05	2.34e-05	2.362e-05	0.0002	1.692e-05	1.493e-05	1.629e-05	1.384e-05	0	0	0	0	0.0001	0.0002	2.342e-05	1.661e-05	0	1.971e-05	1.97e-05	2.569e-05	1.345e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.011	0.55530	D	0.263	0.22828	T	0.924	0.51285	P	0.313	0.41496	B	0.000957	0.40932	D	0.277132	0.999997	0.58761	D	1.32	0.33002	L	-1.46	0.80983	T	-0.62	0.18248	N	0.521	0.55106	-0.6130	0.64279	T	0.301	0.67251	T	10	0.37631056	0.53858	T	0.103858	0.77812	D	0.442	0.74518	0.293	0.25560	0.950249938627	0.94972	0.4556529586943605	0.45483	1.33609069953	0.83747	0.641975164413	0.58846	T	0.185303	0.53823	T	0.0258643	0.55172	T	-0.0619224	0.66199	T	0.370436012744904	0.27814	T	0.379762	0.09155	T	0.11671908	0.27527	0.16847357	0.38809	0.11671908	0.27527	0.16847357	0.38809	-2.205	0.04064	T	.	.	0.132	0.28348	B	.	.	3.494294	0.48858	22.7	0.97849149568746363	0.36385	0.98199	0.80466	D	AEFDBCI	0.667726	0.63575	D	0.136507165899062	0.48172	3.033041	0.219700214270297	0.50940	3.281116	0.999937274709856	0.46732	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	5.63	4.79	0.60909	4.829000	0.62427	7.595000	0.61372	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0:0.8515:0.0:0.1485	11.458	0.49439	849	0.35778	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1963.98	33	chr4	146640129	.	C	A	1963.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.44;DP=805;ExcessHet=0.0000;FS=1.436;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.23;ReadPosRankSum=0.320;SOR=0.833	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1118	20	0	1	0
chr4	147683948	147683948	C	A	exonic	PRMT9	.	nonsynonymous SNV	PRMT9:NM_138364:exon1:c.G40T:p.G14C,	.	.	1	1505	15	1	0	17	0.00561612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.832	P	0.286	B	0.884	N	0.000	P	0	N	1.84	T	-1.034	T	0.001	T	0.324	2.121	13.05	-0.475	-0.346	0.306	6.455	0.059	.	0.0002	0.0277556	0.0123	0	8.908e-05	0.1584	0.0002	0.0005	0.0048	0.0021	0.0108084	1671	154602	rs78226695	0.0042	0.0042	0.0042	0.0041	0.1239	0.0041	0.0041	0.1210	0.1198	8.963e-05	0.0002	0.0036	0.1239	0.0003	0.0007	0.0002	0.0096	0.0032	0.0053	0.0053	0.0046	0.0060	0.1379	0.0050	0.0049	0.1295	0.1261	9.62e-05	0	0.0012	0.0026	0.1379	0.0002	0	0.0003	0.0033	0.0064	0.032	0.44694	D	0.094	0.39645	T	0.832	0.46138	P	0.286	0.40541	B	0.884321	0.08733	N	0.949451	0.994962	0.58761	P	1.1	0.28011	L	1.84	0.24656	T	-0.9	0.24244	N	0.124	0.11626	-1.0338	0.19236	T	0.001	0.00188	T	9	0.0016796291	0.00021	T	.	.	.	0.059	0.16972	.	.	.	.	0.25848887188869984	0.25762	0.306489444402	0.32949	0.470564365387	0.34758	T	0.025072	0.18822	T	-0.590469	0.00167	T	-0.478666	0.24588	T	0.0237076036852353	0.01108	T	0.508249	0.16142	T	0.14936388	0.34055	0.10195227	0.24422	0.14936388	0.34055	0.10195227	0.24422	-6.921	0.53455	T	.	.	0.136	0.29670	B	.	.	2.231159	0.28483	17.81	0.96751402512545792	0.30961	0.17794	0.19990	N	AEFDGBHCI	0.133641	0.25337	N	-0.659841267066006	0.17174	0.8815018	-0.748459377526711	0.15760	0.8304671	0.999999999801245	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.74	-0.475	0.11501	0.401000	0.20673	-0.258000	0.10450	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.658000	0.32913	0.0:0.5878:0.1343:0.2779	6.455	0.21128	768	0.49510	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	392.98	33	chr4	147683948	.	C	A	392.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=715;ExcessHet=0.0000;FS=1.452;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.92;ReadPosRankSum=-6.170e-01;SOR=0.386	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1075	20	0	1	0
chr4	148436413	148436413	G	A	exonic	NR3C2	.	nonsynonymous SNV	NR3C2:NM_000901:exon2:c.C448T:p.R150C	Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy;Pseudohypoaldosteronism type I, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3159506	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.002	B	0.001	B	0.385	N	1.000	N	0.41	N	-2.15	D	-0.745	T	0.391	T	0.251	0.601	7.238	3.66	0.562	1.542	2.556	0.170	0.0318135780953	.	0.000199681	8.241e-05	0	0	0	0	0	0	0.0006	7.76e-05	12	154602	rs533962812	2.121e-05	2.121e-05	1.497e-05	2.75e-05	0.0003	1.52e-05	1.324e-05	0.0002	0.0002	0	0	0	0	0	0	1.799e-06	4.967e-05	0.0003	6.567e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.105	0.30097	T	0.037	0.52389	D	.	.	.	.	.	.	0.385269	0.13332	N	0.738987	0.999985	0.18198	N	0.92	0.23413	L	-2.57	0.89692	D	-0.51	0.19509	N	0.147	0.17966	-0.7451	0.58190	T	0.391	0.74539	T	9	0.029973239	0.01124	T	0.031814	0.53806	D	0.170	0.43303	0.616	0.75000	0.387159634733	0.38326	0.21448832358119166	0.21364	0.185155760088	0.20815	0.227866187692	0.01814	T	0.381734	0.74398	T	-0.278513	0.10825	T	-0.301582	0.44557	T	0.0737837371396058	0.09172	T	0.893511	0.63097	D	0.07277163	0.16213	0.034218945	0.02451	0.07277163	0.16212	0.034218945	0.02450	-3.482	0.16181	T	0.0614734155390769	0.01757	0.074	0.07083	B	.;.;.;.;.	.;.;.;.;.	2.489016	0.32106	18.94	0.94951674421874988	0.25859	0.02093	0.06213	N	AEFBI	0.141521	0.26371	N	-0.622462271721669	0.18270	0.9472259	-0.499575623859311	0.22166	1.202611	0.953013470349845	0.28049	0.562547	0.31514	0	0.573888	0.26702	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	5.56	3.66	0.41111	1.406000	0.34254	6.486000	0.55748	0.618000	0.50648	0.249000	0.24839	1.000000	0.68203	0.996000	0.76049	0.1816:0.1375:0.5304:0.1505	2.556	0.04471	870	0.31527	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2975.98	39	chr4	148436413	.	G	A	2975.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.529;DP=1208;ExcessHet=0.0000;FS=2.126;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=-3.470e-01;SOR=0.568	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	20	0	1	0
chr4	150798139	150798139	A	G	exonic	LRBA	.	nonsynonymous SNV	LRBA:NM_001199282:exon34:c.T5522C:p.L1841P	Immunodeficiency, common variable, 8, with autoimmunity, Autosomal recessive	.	32	1488	2	0	0	2	0.000671592	.	.	795540	Combined_immunodeficiency_due_to_LRBA_deficiency|not_provided	MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700,Orphanet:445018|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.695	M	0.48	T	-0.087	T	0.444	T	0.906	4.423	23.5	5.83	2.217	8.730	16.189	0.548	0.141384192322	.	.	8.284e-05	0	0	0	0	0	0	0.0006	6.47e-05	10	154602	rs752995422	5.324e-05	5.473e-05	3.445e-05	7.217e-05	0.0008	4.324e-05	3.995e-05	0.0007	0.0006	0	0	0	0	0	0.0003	9.108e-07	5.01e-05	0.0008	3.286e-05	3.283e-05	2.57e-05	4.036e-05	0.0010	1.261e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.001	0.78490	D	0.001	0.83351	D	0.999	0.90584	D	0.988	0.88582	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.545	0.74286	M	0.48	0.64818	T	-5.89	0.88767	D	0.907	0.90818	-0.0869	0.80397	T	0.444	0.78100	T	10	0.63678205	0.68827	D	0.141384	0.82380	D	0.707	0.89514	0.636	0.77251	0.739204777061	0.73687	0.8403094318393423	0.83990	0.709716781131	0.61650	0.911393404007	0.97600	D	0.410668	0.76534	T	0.0892889	0.63110	D	0.266326	0.86393	D	0.706447303295135	0.41027	D	0.90021	0.65783	D	0.9354386	0.94784	0.9453803	0.98114	0.9354386	0.94784	0.9453803	0.98115	-12.264	0.86113	D	0.7485056125763362	0.83060	0.985	0.92330	P	.;.;.	.;.;.	4.804923	0.78109	26.8	0.99920708975892514	0.98721	0.99267	0.93693	D	AEFI	0.958992	0.97908	D	0.590135192316925	0.72558	5.824742	0.644851798171547	0.78228	6.834123	0.999965326588942	0.48965	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.83	5.83	0.93059	8.718000	0.91150	11.202000	0.89070	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.189	0.81791	826	0.39940	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	611.98	34	chr4	150798139	.	A	G	611.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.690e-01;DP=765;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.74;ReadPosRankSum=0.360;SOR=0.650	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1152	20	0	1	0
chr4	150852576	150852576	G	A	exonic	LRBA	.	nonsynonymous SNV	LRBA:NM_001199282:exon23:c.C3134T:p.A1045V	Immunodeficiency, common variable, 8, with autoimmunity, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1463990	Combined_immunodeficiency_due_to_LRBA_deficiency	MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700,Orphanet:445018	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.28	T	0.0	B	0.001	B	0.724	N	1.000	N	0.55	N	1.08	T	-1.050	T	0.083	T	0.133	0.456	6.477	2.87	1.524	0.398	3.253	0.086	0.0119894247133	.	.	4.124e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs779195284	7.526e-06	7.524e-06	2.723e-06	1.238e-05	0.0001	4.04e-06	2.95e-06	7.124e-05	5.482e-05	0	0	0	0	0	0	0	0	0.0001	1.313e-05	1.312e-05	0	2.685e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.206	0.20759	T	0.346	0.17696	T	0.0	0.02946	B	0.001	0.04355	B	0.723919	0.09911	N	0.874861	1	0.08975	N	0.695	0.17993	N	1.08	0.55439	T	-0.94	0.25551	N	0.049	0.02272	-1.0497	0.14481	T	0.083	0.32470	T	10	0.0502958	0.04741	T	0.011989	0.30154	T	0.086	0.25016	0.157	0.06070	0.369682402691	0.36581	0.1941193110858232	0.19329	0.114562253734	0.12917	0.193006560206	0.00283	T	0.017764	0.14435	T	-0.412824	0.01904	T	-0.57109	0.15349	T	0.0284736672102037	0.01757	T	0.654634	0.26482	T	0.023715004	0.01135	0.0357198	0.02878	0.023715004	0.01135	0.0357198	0.02878	-3.209	0.12640	T	0.10518970017499224	0.08311	0.076	0.14247	B	.;.;.	.;.;.	0.778707	0.11490	8.090	0.97148143244268359	0.32573	0.08520	0.14438	N	AEFDGBI	0.052384	0.09344	N	-0.659855519076932	0.17174	0.8814787	-0.575433525963395	0.20135	1.083414	0.992704654476209	0.32938	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.602482	0.37289	1	.	.	5.69	2.87	0.32523	0.156000	0.16200	2.028000	0.30240	0.676000	0.76740	0.000000	0.06391	0.026000	0.21063	0.632000	0.32210	0.1524:0.1159:0.5363:0.1954	3.253	0.06418	874	0.30607	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2292.98	34	chr4	150852576	.	G	A	2292.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.000e-03;DP=875;ExcessHet=0.0000;FS=3.562;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.65;ReadPosRankSum=-2.500e-02;SOR=0.638	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1199	20	0	1	0
chr4	151226083	151226083	C	T	exonic	SH3D19	.	nonsynonymous SNV	SH3D19:NM_001378121:exon2:c.G116A:p.R39H	.	.	1197	315	6	4	0	14	0.0217391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0485224	.	.	.	.	.	.	.	.	0.0024321	376	154602	rs371652018	0.0045	0.0035	0.0041	0.0050	0.2094	0.0044	0.0044	0.2041	0.2019	0.0007	0.0002	0.0007	0.0003	0	0.0089	0.0003	0.0115	0.2094	0.0074	0.0074	0.0039	0.0110	0.2154	0.0070	0.0068	0.2045	0.2001	0.0009	0	0.0002	0.0003	0.0008	9.43e-05	0.0034	0.0004	0.0028	0.2154	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1.60554e-35	0.81001	P	.	.	.	.	.	.	.	.	.	0.151	0.15469	.	.	.	.	.	.	.	0.0015856624	0.00018	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.680532	0.28920	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.44397	B	.	.	3.147079	0.42591	21.6	0.94374952466773865	0.24744	0.84785	0.43874	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999999959241	0.74766	0.262962	0.04601	0	0.063388	0.01293	0	0.292756	0.05521	0	0.159066	0.04077	0	0.98146	0.87219	5.92	5.92	0.95557	2.389000	0.44060	2.202000	0.31296	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.094	0.89410	449	0.79428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	5138.44	37	chr4	151226083	.	C	T	5138.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=0.368;DP=1017;ExcessHet=1.1607;FS=0.000;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=-1.150e+00;SOR=0.709	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1120	16	0	5	0
chr4	152770376	152770376	C	T	exonic	TIGD4	.	nonsynonymous SNV	TIGD4:NM_145720:exon2:c.G629A:p.C210Y,	.	.	426	1076	19	1	0	21	0.00966406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.0	B	0.002	B	0.005	N	0.732	D	0.895	L	1.01	T	-1.004	T	0.072	T	0.193	1.326	10.35	2.91	0.815	1.291	9.793	0.074	0.00454715539605	0.0007	0.000599042	0.0010	0.0002	0.0004	0	0	0.0007	0.0033	0.0042	0.0009056	140	154602	rs139871778	0.0009	0.0009	0.0006	0.0011	0.0055	0.0008	0.0008	0.0051	0.0049	0.0003	0.0003	0	0	0	0.0050	0.0006	0.0008	0.0055	0.0005	0.0005	0.0005	0.0006	0.0035	0.0004	0.0004	0.0022	0.0018	7.213e-05	0	0.0003	0	0	0	0.0034	0.0008	0.0009	0.0035	0.052	0.39097	T	0.7	0.05727	T	0.0	0.02946	B	0.002	0.06944	B	0.004761	0.33426	N	0.140441	0.732273	0.33732	D	1.15	0.29295	L	1.01	0.41058	T	-1.29	0.32387	N	0.122	0.11340	-1.0045	0.28607	T	0.072	0.29387	T	10	0.0074849427	0.00170	T	0.004547	0.11220	T	0.074	0.21613	.	.	0.17258766438	0.16869	0.521447656311776	0.52067	0.0239299429718	0.02427	0.58555328846	0.50868	T	0.013863	0.11911	T	-0.529666	0.00386	T	-0.532927	0.18995	T	0.0165530710946136	0.00417	T	0.668933	0.27772	T	0.22484085	0.45133	0.27387723	0.53311	0.22484085	0.45133	0.27387723	0.53310	-4.999	0.36829	T	.	.	0.244	0.47816	B	.	.	3.009436	0.40238	21.1	0.95841116343085175	0.27965	0.56844	0.30222	D	AEFBI	0.109532	0.21752	N	-0.271591532776732	0.30250	1.684948	-0.106650180999005	0.35120	2.028177	0.999944710502599	0.47345	0.553676	0.25195	0	0.588015	0.36545	0	0.514364	0.09456	0	0.564101	0.26826	0	.	.	5.7	2.91	0.32903	1.622000	0.36608	2.138000	0.30825	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.999000	0.91618	0.0:0.7699:0.0:0.2301	9.793	0.39887	810	0.42761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	4649.11	41	chr4	152770376	.	C	T	4649.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.448e+00;DP=1107;ExcessHet=0.1072;FS=3.130;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.22;ReadPosRankSum=0.394;SOR=0.882	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	19	0	2	0
chr4	152974687	152974687	C	T	exonic	FHDC1	.	nonsynonymous SNV	FHDC1:NM_033393:exon11:c.C1396T:p.R466W	.	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.825	M	-0.04	T	0.088	D	0.472	T	0.83	2.144	13.13	3.95	1.413	1.582	14.206	0.467	.	7.7e-05	0.00698882	0.0028	0	0.0003	0.0014	0	7.889e-05	0.0052	0.0318	0.0025291	391	154602	rs142586053	0.0015	0.0015	0.0009	0.0020	0.0252	0.0014	0.0014	0.0242	0.0238	0.0001	6.957e-05	0.0005	0.0010	0	0.0018	9.044e-05	0.0019	0.0252	0.0010	0.0010	0.0007	0.0013	0.0251	0.0008	0.0008	0.0215	0.0201	4.811e-05	0	6.533e-05	0.0003	0.0031	0	0	5.881e-05	0.0009	0.0251	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000010	0.62929	D	0.112779	0.999998	0.58761	D	2.895	0.83812	M	-0.04	0.63240	T	-8.0	0.96495	D	0.79	0.78737	0.088	0.83950	D	0.472	0.79690	T	10	0.0065909326	0.00149	T	.	.	.	0.467	0.76222	.	.	0.452072420954	0.44828	0.7129211247751294	0.71234	0.565826034323	0.52905	0.407651245594	0.26132	T	0.180972	0.53249	T	-0.134735	0.30732	T	0.0566835	0.74025	D	0.166214714258909	0.18318	T	0.946205	0.79443	D	0.7856834	0.83005	0.44014558	0.67343	0.7856834	0.83006	0.44014558	0.67343	-8.697	0.65726	D	.	.	0.294	0.53198	B	.;.	.;.	4.091796	0.60950	24.3	0.99795064828813373	0.88017	0.89766	0.50444	D	AEFDBCI	0.766168	0.70243	D	0.196848174771789	0.51047	3.289249	0.0548129973503038	0.42304	2.556529	0.999994436607044	0.74766	0.634777	0.41761	0	0.59043	0.45803	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	5.75	3.95	0.44952	1.624000	0.36629	2.252000	0.31695	-0.224000	0.07868	0.877000	0.30928	0.982000	0.30508	0.005000	0.06747	0.5035:0.4965:0.0:0.0	14.206	0.65274	869	0.31655	Formin, FH2 domain|Formin, FH2 domain;Formin, FH2 domain|Formin, FH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	748.98	35	chr4	152974687	.	C	T	748.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.34;DP=750;ExcessHet=0.0000;FS=5.536;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=2.00;SOR=1.470	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1214	20	0	1	0
chr4	152975105	152975105	C	T	exonic	FHDC1	.	nonsynonymous SNV	FHDC1:NM_033393:exon11:c.C1814T:p.S605L	.	.	409	1110	3	0	0	3	0.00134953	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.111	B	0.019	B	0.909	N	1.000	N	1.32	L	1.32	T	-1.012	T	0.022	T	0.022	1.782	11.92	-1.92	-0.033	0.251	1.852	0.028	.	0.0091	0.00938498	0.0039	0.0297	0.0007	0.0002	0	7.859e-05	0.0011	0.0100	0.0035381	547	154602	rs113529553	0.0013	0.0013	0.0012	0.0015	0.0269	0.0013	0.0013	0.0255	0.0249	0.0269	0.0008	0	5.038e-05	0	0.0012	2.788e-05	0.0023	0.0095	0.0076	0.0076	0.0078	0.0074	0.0258	0.0072	0.0071	0.0245	0.0240	0.0258	0	0.0014	0	0.0004	0	0.0034	5.88e-05	0.0033	0.0104	0.385	0.11015	T	0.147	0.32783	T	0.111	0.26235	B	0.019	0.18783	B	0.909486	0.07406	N	1.045190	0.999994	0.08975	N	1.745	0.45235	L	1.32	0.35219	T	-0.8	0.22078	N	0.083	0.05929	-1.0125	0.26133	T	0.022	0.09238	T	10	0.002305895	0.00034	T	.	.	.	0.028	0.06331	.	.	0.149567049428	0.14543	0.21829054750961446	0.21745	0.103562949394	0.11719	0.26503098011	0.05504	T	0.00431	0.03719	T	-0.683218	0.00046	T	-0.734575	0.04122	T	0.0025808515160708	0.00027	T	0.524548	0.17205	T	0.027238326	0.01887	0.02869339	0.01131	0.027238326	0.01887	0.02869339	0.01130	-3.687	0.19127	T	.	.	0.080	0.07937	B	.;.	.;.	0.592235	0.09609	6.381	0.96555025139822359	0.30240	0.19836	0.20814	N	AEFDBCI	0.121380	0.23600	N	-0.882518830915389	0.11258	0.5423457	-0.946638297000928	0.11000	0.5577707	0.993534371747732	0.33253	0.634777	0.41761	0	0.59043	0.45803	0	0.643519	0.47002	0	0.586402	0.36253	0	.	.	5.37	-1.92	0.07203	0.110000	0.15273	-0.520000	0.08695	-0.172000	0.11096	0.000000	0.06391	0.000000	0.08366	0.192000	0.21661	0.2002:0.4328:0.2002:0.1668	1.852	0.02978	871	0.31377	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1881.11	35	chr4	152975105	.	C	T	1881.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.05;DP=859;ExcessHet=0.1072;FS=0.579;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.26;ReadPosRankSum=2.34;SOR=0.778	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,114,1710	19	0	2	0
chr4	153397308	153397308	T	G	exonic	MND1	.	nonsynonymous SNV	MND1:NM_032117:exon6:c.T441G:p.C147W,	.	.	435	1073	12	2	0	16	0.00740056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.987	D	0.865	P	0.000	D	1.000	D	2.725	M	.	.	-0.545	T	0.324	T	0.776	1.857	12.17	2.94	0.416	2.811	8.238	0.720	.	0.0004	0.00219649	0.0019	0	0.0002	0	0	0.0004	0.0026	0.0125	0.0014553	225	154602	rs34155513	0.0009	0.0009	0.0005	0.0013	0.0120	0.0009	0.0009	0.0114	0.0112	5.979e-05	0.0002	0	0	0	0.0050	0.0002	0.0011	0.0120	0.0006	0.0006	0.0003	0.0010	0.0124	0.0005	0.0005	0.0099	0.0090	2.405e-05	0	0.0003	0	0	0	0	0.0004	0.0005	0.0124	0.098	0.40573	T	0.18	0.29442	T	0.987	0.61912	D	0.865	0.61524	P	0.000000	0.84330	D	0.041461	1	0.81001	D	3.37	0.91327	M	.	.	.	-6.4	0.96218	D	0.748	0.74735	-0.5454	0.66960	T	0.324	0.69255	T	9	0.012475997	0.00268	T	.	.	.	0.720	0.90101	.	.	0.361758802978	0.35793	0.6569080204790706	0.65627	0.511586276825	0.49235	0.618680477142	0.55543	T	0.26077	0.63218	T	-0.109848	0.34792	T	0.078829	0.75499	D	0.159456358214955	0.17831	T	0.911709	0.72366	D	0.54064786	0.69433	0.54937625	0.73947	0.54064786	0.69434	0.54937625	0.73947	-11.202	0.80754	D	.	.	0.452	0.65185	A	.;.	.;.	4.259806	0.64723	24.7	0.99216729701269402	0.55777	0.92021	0.54770	D	AEFGBI	0.652997	0.62619	D	0.341669177866107	0.58299	4.001551	0.244616661895043	0.52343	3.409832	0.0457380989113274	0.14663	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.44	2.94	0.33188	2.929000	0.48610	4.131000	0.42030	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:0.1629:0.0:0.8371	8.238	0.30798	600	0.68026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1045.98	100	chr4	153397308	.	T	G	1045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.58;DP=795;ExcessHet=0.0000;FS=3.825;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.46;ReadPosRankSum=-3.136e+00;SOR=1.165	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1283	20	0	1	0
chr4	154270010	154270010	G	A	exonic	DCHS2	.	nonsynonymous SNV	DCHS2:NM_001358235:exon14:c.C6467T:p.T2156I,	.	.	13	1476	33	0	0	33	0.0110553	.	.	3210773	DCHS2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.07	T	0.76	P	0.484	P	0.000	D	1.000	D	2.795	M	0.35	T	-0.646	T	0.226	T	0.464	1.447	10.78	3.78	1.286	2.520	9.152	0.239	.	0.0018	0.0071885	0.0061	0.0004	0.0012	0.0005	0.0005	0.0022	0.0112	0.0337	0.0053557	828	154602	rs146032523	0.0040	0.0040	0.0031	0.0048	0.0352	0.0039	0.0038	0.0342	0.0337	0.0004	0.0017	0.0003	0.0002	0.0008	0.0091	0.0021	0.0042	0.0352	0.0025	0.0025	0.0021	0.0028	0.0357	0.0023	0.0022	0.0313	0.0296	0.0003	0.0208	0.0013	0	0.0004	9.468e-05	0	0.0021	0.0033	0.0357	.	.	.	.	.	.	.	.	.	.	.	.	0.000110	0.50451	D	0.080919	0.951162	0.37727	D	.	.	.	.	.	.	.	.	.	.	.	-0.6460	0.62887	T	0.226	0.59007	T	10	0.006926775	0.00157	T	.	.	.	0.239	0.54358	.	.	.	.	0.4371462445025686	0.43631	0.421972331622	0.42701	0.428028941154	0.28939	T	.	.	.	-0.315099	0.07307	T	-0.198234	0.54814	T	0.051825111248953	0.05817	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.37577	B	.	.	3.602285	0.50884	23.0	0.99540912594671249	0.70523	0.75788	0.37126	D	AEFI	0.170320	0.29722	N	0.240908584627223	0.53192	3.489131	0.180325613610028	0.48768	3.088515	1.91105380058075E-4	0.05898	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.55	3.78	0.42629	2.683000	0.46609	6.501000	0.55783	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.819000	0.38590	0.0806:0.1454:0.774:0.0	9.152	0.36131	683	0.59664	Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	626.98	33	chr4	154270010	.	G	A	626.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.874e+00;DP=741;ExcessHet=0.0000;FS=5.166;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.80;ReadPosRankSum=0.357;SOR=0.295	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1109	20	0	1	0
chr4	154320585	154320585	G	C	exonic	DCHS2	.	nonsynonymous SNV	DCHS2:NM_001358235:exon9:c.C4814G:p.T1605R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.927	P	0.419	B	0.883	N	1.000	N	2.77	M	0.02	T	-0.811	T	0.263	T	0.215	2.405	14.00	0.53	0.096	2.655	10.004	0.296	0.0128995631933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.882562	0.08745	N	0.946206	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.8115	0.54460	T	0.263	0.63372	T	10	0.32522473	0.49836	T	0.013	0.31871	T	0.296	0.61616	.	.	.	.	0.4970587962303611	0.49626	0.306765287981	0.32982	0.2259953022	0.01685	T	.	.	.	-0.129387	0.31594	T	-0.423632	0.30660	T	0.775707244873047	0.44785	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04396	B	.	.	2.349552	0.30123	18.34	0.98586336137661656	0.43310	0.82348	0.41589	D	AEFI	0.441131	0.49941	N	-0.21865526324956	0.32369	1.824713	-0.312135520435471	0.27705	1.539318	0.00290506406406706	0.09788	0.594549	0.33734	0	0.573888	0.26702	0	0.597571	0.31856	0	0.564101	0.26826	0	.	.	5.59	0.53	0.16296	2.706000	0.46803	1.914000	0.29665	-0.116000	0.14526	0.995000	0.38783	0.000000	0.08366	0.986000	0.61781	0.5267:0.0:0.4733:0.0	10.004	0.41120	737	0.53483	Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3265.98	43	chr4	154320585	.	G	C	3265.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.590e-01;DP=1034;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.61;ReadPosRankSum=1.16;SOR=0.692	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	20	0	1	0
chr4	154366329	154366329	G	A	exonic	DCHS2	.	nonsynonymous SNV	DCHS2:NM_001142552:exon3:c.C2357T:p.P786L	.	.	11	1492	19	0	0	19	0.00632701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.461	P	0.335	B	0.000	D	1.000	D	1.475	L	0.23	T	-0.755	T	0.203	T	0.31	3.139	16.49	4.98	1.472	6.993	14.610	0.252	0.022935540165	.	.	0.0003	0	0	0.0001	0	0.0001	0	0.0016	0.0002458	38	154602	rs776121940	0.0001	0.0001	7.215e-05	0.0002	0.0017	0.0001	0.0001	0.0013	0.0013	0	6.709e-05	0	2.52e-05	1.872e-05	0.0017	2.248e-05	0.0002	0.0016	7.237e-05	7.224e-05	3.858e-05	0.0001	0.0012	3.976e-05	3.131e-05	0.0005	0.0004	0	0	6.551e-05	0	0	9.43e-05	0	4.412e-05	0	0.0012	0.056	0.38185	T	0.47	0.12246	T	.	.	.	.	.	.	0.000025	0.55875	D	0.000000	0.994405	0.58761	D	.	.	.	0.23	0.59717	T	-7.39	0.94729	D	0.257	0.29081	-0.7546	0.57694	T	0.203	0.56073	T	10	0.04729852	0.04030	T	0.022936	0.45870	T	0.252	0.56159	.	.	0.572487460518	0.56915	0.14732694719053407	0.14654	0.083602548592	0.09429	0.418002486229	0.27562	T	.	.	.	-0.363034	0.03962	T	-0.324328	0.42098	T	0.211391301806368	0.21026	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.09917	B	.;.	.;.	3.680329	0.52381	23.2	0.99692421900675798	0.80044	0.97921	0.78139	D	AEFI	0.761082	0.69891	D	0.0879980630607209	0.45905	2.839226	0.164841798287514	0.47934	3.016299	0.999999974898402	0.74766	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.82	4.98	0.65679	6.911000	0.75569	7.540000	0.60069	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0705:0.0:0.9295:0.0	14.610	0.68104	849	0.35778	Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1485.98	35	chr4	154366329	.	G	A	1485.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.643;DP=814;ExcessHet=0.0000;FS=4.965;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.57;ReadPosRankSum=-1.380e-01;SOR=0.817	GT:AD:DP:GQ:PL	0/1:45,57:102:99:1500,0,1056	20	0	1	0
chr4	154545846	154545846	G	A	exonic	PLRG1	.	nonsynonymous SNV	PLRG1:NM_001201564:exon6:c.C455T:p.A152V	.	.	432	1082	7	1	0	9	0.00414174	.	.	2761857	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.22	T	0.01	B	0.001	B	0.152	N	1.000	N	0.55	N	0.12	T	-1.051	T	0.088	T	0.209	2.332	13.75	-3.73	-0.505	0.103	8.843	0.048	0.0314313700788	.	0.000199681	0.0001	0	0	0	0	1.522e-05	0.0011	0.0006	9.7e-05	15	154602	rs547768914	8.824e-05	9.1e-05	4.944e-05	0.0001	0.0012	7.546e-05	7.09e-05	0.0009	0.0008	3.017e-05	4.52e-05	0	0	0	0.0012	2.176e-05	6.67e-05	0.0010	5.253e-05	5.249e-05	3.855e-05	6.714e-05	0.0006	2.556e-05	1.829e-05	0.0002	8.996e-05	0	0	0	0	0	9.418e-05	0	5.881e-05	0	0.0006	0.138	0.25873	T	0.124	0.35455	T	0.006	0.15535	B	0.001	0.04355	B	0.151683	0.17947	N	0.616647	1	0.08975	N	0.55	0.14455	N	0.11	0.61208	T	-0.46	0.23372	N	0.097	0.07811	-1.0512	0.14064	T	0.088	0.34050	T	10	0.022129625	0.00545	T	0.031431	0.53513	D	0.048	0.13305	0.205	0.12076	0.430026717358	0.42623	0.16524014356799185	0.16444	0.259652544966	0.28522	0.281900525093	0.07759	T	0.208412	0.56833	T	-0.484524	0.00697	T	-0.527953	0.19491	T	0.0185975898749166	0.00574	T	0.622538	0.24427	T	0.01537073	0.00135	0.035014383	0.02673	0.01537073	0.00135	0.035014383	0.02672	-3.77	0.20357	T	.	.	0.076	0.08609	B	.;.;.	.;.;.	1.501485	0.19302	14.19	0.92421041423423622	0.21838	0.12564	0.17345	N	AEFBHCI	0.256450	0.37537	N	-1.25347909439514	0.04254	0.1916351	-1.29340018613211	0.04519	0.2133408	0.994346798759741	0.33595	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.35	-3.73	0.04112	0.017000	0.13294	-0.054000	0.12508	-0.106000	0.15538	0.030000	0.20431	0.000000	0.08366	0.106000	0.18562	0.3609:0.4764:0.1627:0.0	8.843	0.34312	878	0.29785	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	673.98	36	chr4	154545846	.	G	A	673.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.153e+00;DP=844;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.23;ReadPosRankSum=1.30;SOR=0.646	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1164	20	0	1	0
chr4	155352626	155352631	TTTATC	-	exonic	MAP9	.	nonframeshift deletion	MAP9:NM_001039580:exon13:c.1786_1791del:p.D596_K597del,	.	.	593	926	3	0	0	3	0.00161725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0097	0.000998403	0.0050	0.0012	0.0018	0	0.0009	0.0079	0.0034	0.0027	0.0010758	28	26028	rs574972280	0.0074	0.0077	0.0074	0.0073	0.0089	0.0072	0.0072	0.0087	0.0086	0.0011	0.0026	0.0001	0	0.0018	0.0005	0.0089	0.0078	0.0020	0.0045	0.0045	0.0052	0.0037	0.0082	0.0042	0.0041	0.0076	0.0074	0.0015	0	0.0027	0	0	0.0011	0	0.0082	0.0033	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	990.94	37	chr4	155352625	.	GTTTATC	G	990.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=810;ExcessHet=0.0000;FS=0.937;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.25;ReadPosRankSum=-1.968e+00;SOR=0.570	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1171	20	0	1	0
chr4	155722150	155722150	G	A	exonic	GUCY1A1	.	nonsynonymous SNV	GUCY1A1:NM_001130684:exon8:c.G1829A:p.C610Y	.	.	.	.	.	.	.	.	.	.	.	2188620	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.43	T	0.992	D	0.892	P	0.000	D	1.000	D	0.805	L	-1.42	T	-0.227	T	0.500	D	0.888	4.587	25.0	5.62	2.647	9.869	19.654	0.696	0.0840132406053	0.0005	.	0.0003	9.612e-05	8.669e-05	0	0.0002	0.0004	0	0.0003	0.0003234	50	154602	rs201913028	0.0005	0.0005	0.0005	0.0005	0.0006	0.0005	0.0005	0.0006	0.0006	8.974e-05	0.0002	0	0	7.489e-05	0	0.0006	0.0003	0.0003	0.0004	0.0004	0.0004	0.0003	0.0006	0.0003	0.0003	0.0005	0.0004	0.0001	0	0	0	0	0.0003	0.0032	0.0006	0.0005	0.0004	0.034	0.44029	D	0.507	0.25438	T	0.992	0.64738	D	0.892	0.63276	P	0.000003	0.62929	D	0.000000	1	0.81001	D	.	.	.	-1.42	0.80645	T	-1.92	0.50992	N	0.827	0.86511	-0.2271	0.76963	T	0.500	0.81120	D	10	0.54244393	0.63796	D	0.084013	0.74236	D	0.696	0.89007	.	.	0.954707308441	0.95422	0.9164316203552745	0.91618	0.552000415259	0.52022	0.853103339672	0.90082	D	0.224446	0.58889	T	0.0789006	0.61912	D	0.240858	0.85188	D	0.0844153463840485	0.10542	T	0.90081	0.70348	D	0.48779836	0.66371	0.63715625	0.78812	0.48779836	0.66372	0.63715625	0.78813	-7.282	0.56067	T	0.27660573507660124	0.37121	0.233	0.51139	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.630352	0.73614	26.0	0.99800048628625182	0.88461	0.99214	0.92914	D	AEFBI	0.977216	0.99712	D	0.640063827288165	0.75728	6.357396	0.705307407055248	0.82781	7.85303	0.999999999999967	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.62	5.62	0.85714	10.003000	0.99689	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.654	0.95824	558	0.71484	Adenylyl cyclase class-3/4/guanylyl cyclase|Adenylyl cyclase class-3/4/guanylyl cyclase;Adenylyl cyclase class-3/4/guanylyl cyclase|Adenylyl cyclase class-3/4/guanylyl cyclase;.;Adenylyl cyclase class-3/4/guanylyl cyclase|Adenylyl cyclase class-3/4/guanylyl cyclase;Adenylyl cyclase class-3/4/guanylyl cyclase|Adenylyl cyclase class-3/4/guanylyl cyclase;Adenylyl cyclase class-3/4/guanylyl cyclase|Adenylyl cyclase class-3/4/guanylyl cyclase;Adenylyl cyclase class-3/4/guanylyl cyclase|Adenylyl cyclase class-3/4/guanylyl cyclase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1691.98	43	chr4	155722150	.	G	A	1691.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.210e-01;DP=959;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=1.47;SOR=0.687	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr4	155789900	155789900	A	G	exonic	GUCY1B1	.	nonsynonymous SNV	GUCY1B1:NM_001291955:exon4:c.A280G:p.I94V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.015	B	0.036	B	0.000	D	0.999	D	-1.2	N	0.98	T	-1.004	T	0.037	T	0.24	0.176	4.949	5.67	2.288	7.458	16.215	0.124	0.00583722670017	.	.	4.249e-05	0	0	0	0	7.624e-05	0	0	4.53e-05	7	154602	rs759468592	5.158e-05	5.336e-05	5.066e-05	5.251e-05	1.085e-05	4.214e-05	3.844e-05	5.78e-06	4.57e-06	0	0	0.0021	0	0	0	1.085e-05	0.0001	0	1.971e-05	1.97e-05	0	4.034e-05	1.47e-05	5.24e-06	2.45e-06	.	.	0	0	0	0.0006	0	0	0	1.47e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.008	0.16265	B	0.016	0.22909	B	0.000000	0.84330	D	0.000000	0.999094	0.46054	D	-1.13	0.00936	N	0.98	0.42122	T	0.61	0.02480	N	0.22	0.28849	-1.0035	0.28903	T	0.037	0.16116	T	10	0.024088204	0.00651	T	0.005837	0.15191	T	0.124	0.34239	0.552	0.66856	0.130388298395	0.12655	0.5722551718703596	0.57153	0.0115580955069	0.01086	0.797086119652	0.81519	T	0.003024	0.38657	T	-0.235725	0.15899	T	-0.493514	0.23024	T	0.104799075159805	0.12876	T	0.770523	0.40040	T	0.22475775	0.45124	0.23865443	0.49194	0.22475775	0.45124	0.23865443	0.49193	-3.996	0.23744	T	.	.	0.127	0.27433	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.315865	0.29649	18.19	0.58140307382118761	0.05926	0.98229	0.80739	D	AEFBI	0.897987	0.84077	D	-0.351286048934141	0.27225	1.491996	-0.0319349399927973	0.38281	2.253139	0.999999965565775	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.67	5.67	0.87673	7.425000	0.79444	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.215	0.82026	917	0.20147	Heme NO-binding;Heme NO-binding;.;Heme NO-binding;Heme NO-binding;.;Heme NO-binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1196.98	34	chr4	155789900	.	A	G	1196.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.90;DP=814;ExcessHet=0.0000;FS=0.743;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.73;ReadPosRankSum=-7.480e-01;SOR=0.841	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1291	20	0	1	0
chr4	157170619	157170619	C	T	exonic	GLRB	.	nonsynonymous SNV	GLRB:NM_000824:exon10:c.C1385T:p.A462V	Hyperekplexia 2, autosomal recessive	.	1	1517	3	0	1	4	0.000987817	.	.	292647	GLRB-related_disorder|Hyperekplexia_2	.|MONDO:MONDO:0013828,MedGen:C3553291,OMIM:614619,Orphanet:3197	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.25	T	0.107	B	0.075	B	0.000	D	1.000	D	0	N	-1.67	D	-0.595	T	0.339	T	0.253	3.181	16.65	5.8	2.740	7.818	20.043	0.391	0.0517827576685	.	0.000798722	0.0013	0	0.0003	0	0	3.001e-05	0	0.0090	0.0010349	160	154602	rs148031091	0.0006	0.0006	0.0003	0.0009	0.0097	0.0006	0.0006	0.0092	0.0090	2.992e-05	0.0001	0	0	1.872e-05	0.0002	1.26e-05	0.0008	0.0097	0.0002	0.0002	7.714e-05	0.0003	0.0064	0.0002	0.0001	0.0047	0.0040	2.407e-05	0	0	0	0	0	0	0	0	0.0064	0.262	0.16466	T	0.341	0.17964	T	0.107	0.26081	B	0.075	0.28327	B	0.000001	0.84330	D	0.097855	0.999978	0.81001	D	0.775	0.19437	N	-1.67	0.82806	D	0.44	0.03243	N	0.109	0.30118	-0.5952	0.65012	T	0.339	0.70559	T	10	0.008450478	0.00192	T	0.051783	0.64804	D	0.391	0.70684	0.457	0.52265	0.813012797388	0.81126	0.40569893053870937	0.40485	0.208181691083	0.23289	0.635487914085	0.57923	T	0.25951	0.63079	T	-0.318262	0.07040	T	-0.222262	0.52518	T	0.0243163255904742	0.01184	T	0.966703	0.87848	D	0.11641875	0.27458	0.17332523	0.39651	0.1315157	0.30653	0.14442214	0.34288	-3.201	0.12493	T	0.13733096572369805	0.15100	0.079	0.07083	B	.;.	.;.	3.761770	0.53977	23.4	0.99355867477352877	0.60779	0.98436	0.82758	D	AEFDIJ	0.912298	0.87273	D	0.0395249090428382	0.43663	2.654757	0.272902987272577	0.53962	3.562871	0.999999999997718	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.8	5.8	0.92081	7.905000	0.86479	7.647000	0.63496	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.894000	0.43146	0.0:1.0:0.0:0.0	20.043	0.97600	955	0.09969	Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1550.98	33	chr4	157170619	.	C	T	1550.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.413;DP=820;ExcessHet=0.0000;FS=0.657;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=-4.300e-02;SOR=0.773	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1074	20	0	1	0
chr4	158170954	158170954	C	T	exonic	GASK1B	.	nonsynonymous SNV	GASK1B:NM_001031700:exon2:c.G422A:p.G141E	.	.	429	1078	15	0	0	15	0.00690926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.956	P	0.564	P	0.914	N	1.000	N	1.245	L	1.64	T	-0.983	T	0.060	T	0.109	0.399	6.165	-0.115	-0.261	1.400	10.999	0.079	.	0.0072	0.00379393	0.0069	0.0015	0.0041	0	0.0054	0.0105	0.0088	0.0021	0.0068175	1054	154602	rs147697286	0.0084	0.0084	0.0085	0.0084	0.0099	0.0083	0.0083	0.0097	0.0097	0.0013	0.0035	0.0031	0	0.0077	0.0064	0.0099	0.0077	0.0020	0.0065	0.0065	0.0070	0.0060	0.0113	0.0062	0.0060	0.0106	0.0104	0.0016	0.0033	0.0033	0.0052	0	0.0053	0.0034	0.0113	0.0076	0.0015	0.063	0.37118	T	0.842	0.22223	T	.	.	.	.	.	.	0.914439	0.07436	N	1.040310	1	0.08975	N	.	.	.	1.64	0.27822	T	-1.34	0.33401	N	0.168	0.25377	-0.9831	0.34281	T	0.060	0.24981	T	10	0.0036983788	0.00068	T	.	.	.	0.079	0.23065	.	.	0.245101548738	0.24120	0.415537053956538	0.41469	0.726907967018	0.62539	0.404081493616	0.25637	T	.	.	.	-0.621282	0.00108	T	-0.653529	0.08709	T	0.0180847529048615	0.00531	T	0.764624	0.39166	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.15698	B	.;.;.;.	.;.;.;.	0.723194	0.10925	7.592	0.82697138627709676	0.14327	0.40026	0.26345	N	AEFDBCI	0.314170	0.41911	N	-0.727053110721069	0.15264	0.7677369	-0.834160244315512	0.13669	0.7103327	0.999999903827991	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.615948	0.41167	0	0.56214	0.19341	0	.	.	4.96	-0.115	0.12899	0.836000	0.27198	0.000000	0.13247	0.599000	0.40250	0.000000	0.06391	0.098000	0.22634	0.011000	0.09372	0.0:0.36:0.5634:0.0766	10.999	0.46810	640	0.64132	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2393.98	37	chr4	158170954	.	C	T	2393.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.600e-01;DP=945;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=0.855;SOR=0.701	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,999	20	0	1	0
chr4	158608039	158608039	A	-	exonic	RXFP1	.	frameshift deletion	RXFP1:NM_001253728:exon5:c.433delA:p.K145Nfs*9	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0	0	0.0022	0.0002329	36	154602	rs756658609	0.0001	0.0001	5.112e-05	0.0002	0.0017	9.236e-05	8.76e-05	0.0015	0.0014	0	0	0	0	0	0.0002	9.125e-07	5.022e-05	0.0017	3.283e-05	3.281e-05	1.285e-05	5.371e-05	0.0010	1.26e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1847.94	34	chr4	158608038	.	TA	T	1847.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.060e+00;DP=854;ExcessHet=0.0000;FS=1.497;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.35;ReadPosRankSum=1.33;SOR=0.855	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1201	20	0	1	0
chr4	158645088	158645088	A	T	exonic	RXFP1	.	nonsynonymous SNV	RXFP1:NM_001253729:exon13:c.A1151T:p.Y384F	.	.	430	1051	39	2	0	43	0.0200466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.001	B	0.01	B	0.000	D	1.000	D	-0.54	N	1.27	T	-1.078	T	0.025	T	0.491	1.836	12.10	4.57	0.997	6.131	11.844	0.187	.	0.0018	0.00379393	0.0024	0.0006	0.0022	0	0.0005	0.0024	0.0022	0.0060	0.0024579	380	154602	rs76517567	0.0028	0.0028	0.0026	0.0029	0.0087	0.0027	0.0027	0.0068	0.0061	0.0006	0.0015	0.0004	0	0.0004	0.0087	0.0028	0.0025	0.0066	0.0021	0.0021	0.0019	0.0022	0.0071	0.0019	0.0018	0.0052	0.0046	0.0005	0	0.0017	0	0	0.0004	0.0136	0.0033	0.0019	0.0071	0.678	0.04713	T	1.0	0.02471	T	0.0	0.07471	B	0.001	0.14941	B	0.000000	0.84330	D	0.055071	0.998881	0.45620	D	0.125	0.08623	N	1.27	0.36146	T	-0.14	0.10656	N	0.347	0.38950	-1.0780	0.07741	T	0.025	0.10777	T	10	0.00875029	0.00198	T	.	.	.	0.187	0.46274	.	.	0.42828666871	0.42450	0.4035505940782954	0.40271	0.134654301779	0.15172	0.440155625343	0.30598	T	0.003769	0.33668	T	-0.439762	0.01297	T	-0.401852	0.33168	T	0.0134647964104998	0.00245	T	0.885211	0.61002	D	0.17550364	0.38412	0.10294074	0.24686	0.17550364	0.38412	0.10294074	0.24686	-4.574	0.32134	T	.	.	0.088	0.13174	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.035924	0.25880	16.92	0.91066534062621174	0.20318	0.97637	0.76068	D	AEFDBI	0.862811	0.78119	D	-0.397811946846213	0.25546	1.387581	-0.132525958353084	0.34088	1.956928	0.999999948736557	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.76	4.57	0.55860	5.168000	0.64817	1.582000	0.27480	0.756000	0.94297	1.000000	0.71638	0.231000	0.23784	0.998000	0.85391	0.9314:0.0:0.0686:0.0	11.844	0.51644	927	0.17636	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1762.98	34	chr4	158645088	.	A	T	1762.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.09;DP=830;ExcessHet=0.0000;FS=1.455;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=-2.100e-02;SOR=0.905	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1264	20	0	1	0
chr4	159353588	159353588	C	T	exonic	RAPGEF2	.	nonsynonymous SNV	RAPGEF2:NM_014247:exon22:c.C3710T:p.A1237V	.	.	426	1088	7	1	0	9	0.00411899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.01	B	0.004	B	0.000	D	1.000	D	-0.46	N	1.34	T	-1.029	T	0.042	T	0.143	-0.441	1.951	5.8	2.741	3.688	20.054	0.138	.	0.0002	0.00539137	0.0027	0.0004	0.0003	0.0001	0	0	0	0.0276	0.0023932	370	154602	rs201405934	0.0014	0.0014	0.0007	0.0021	0.0229	0.0013	0.0013	0.0221	0.0217	6.179e-05	2.48e-05	0	0.0001	0	0.0004	9.063e-06	0.0012	0.0229	0.0009	0.0009	0.0004	0.0013	0.0264	0.0007	0.0007	0.0227	0.0213	4.817e-05	0	0	0	0	0	0	1.47e-05	0.0005	0.0264	1.0	0.00964	T	0.915	0.02917	T	0.01	0.15535	B	0.004	0.10090	B	0.000000	0.84330	D	0.052754	0.999684	0.48270	D	-0.235	0.03917	N	1.34	0.34841	T	-0.34	0.12661	N	0.133	0.12913	-1.0292	0.20713	T	0.042	0.17952	T	10	0.0050828457	0.00110	T	.	.	.	0.138	0.37187	.	.	0.171220215726	0.16700	0.20072392675649475	0.19989	0.196474976537	0.22011	0.685498595238	0.65058	T	0.072291	0.34418	T	-0.559852	0.00254	T	-0.560708	0.16311	T	0.0295655141126503	0.01922	T	0.89801	0.64352	D	0.06763808	0.14664	0.12388532	0.29868	0.06763808	0.14664	0.12388532	0.29867	-4.521	0.31162	T	.	.	0.196	0.42346	B	.;.;.	.;.;.	2.564744	0.33223	19.28	0.11703427839285747	0.00183	0.92334	0.55472	D	AEFDBIJ	0.274240	0.38947	N	-0.588917354232447	0.19280	1.007815	-0.389115920902321	0.25319	1.391733	0.999999998777403	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	3.735000	0.54767	2.239000	0.31595	0.599000	0.40250	0.998000	0.41325	0.975000	0.29991	0.082000	0.17360	0.0:1.0:0.0:0.0	20.054	0.97644	862	0.33134	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1494.98	37	chr4	159353588	.	C	T	1494.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.345e+00;DP=841;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.91;ReadPosRankSum=-2.350e-01;SOR=0.669	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,108,1620	20	0	1	0
chr4	159356096	159356096	C	T	exonic	RAPGEF2	.	nonsynonymous SNV	RAPGEF2:NM_014247:exon23:c.C4412T:p.P1471L	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.0	B	0.001	B	0.001	N	1.000	D	0.295	N	1.25	T	-1.095	T	0.051	T	0.287	-1.284	0.041	4.39	1.200	3.264	13.574	0.076	0.0234134488884	.	.	1.664e-05	0	0	0	0	3.01e-05	0	0	1.29e-05	2	154602	rs762752578	2.941e-05	2.941e-05	2.859e-05	3.025e-05	0.0002	2.216e-05	1.97e-05	2.711e-05	2.387e-05	0	2.236e-05	0	0	0	0.0002	3.597e-05	0	1.159e-05	1.972e-05	1.97e-05	1.285e-05	2.691e-05	2.939e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.939e-05	0	0	1.0	0.00964	T	0.278	0.21812	T	0.0	0.02946	B	0.001	0.04355	B	0.000666	0.42516	N	0.206645	0.999988	0.54805	D	0.715	0.18665	N	1.25	0.36512	T	-0.62	0.18248	N	0.304	0.34336	-1.0952	0.04723	T	0.051	0.21883	T	10	0.07304591	0.10985	T	0.023413	0.46369	T	0.076	0.22200	0.115	0.02372	0.193917141947	0.19028	0.3464820363878654	0.34562	0.201043316276	0.22505	0.472830832005	0.35069	T	0.085817	0.37587	T	-0.248187	0.14323	T	-0.511414	0.21170	T	0.206459298729897	0.20767	T	0.878612	0.62362	D	0.03248665	0.03285	0.04009738	0.04256	0.03248665	0.03284	0.04009738	0.04256	-3.557	0.17239	T	.	.	0.165	0.36673	B	.;.;.	.;.;.	3.056357	0.41027	21.3	0.14846467403215174	0.00342	0.95889	0.66590	D	AEFBI	0.307210	0.41415	N	-0.648442521165067	0.17506	0.9013942	-0.542066259230344	0.21016	1.134973	0.999999401593746	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.23	4.39	0.52211	2.571000	0.45654	5.823000	0.50099	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.014000	0.10232	0.0:0.9251:0.0:0.0749	13.574	0.61328	862	0.33134	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1673.98	33	chr4	159356096	.	C	T	1673.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.676;DP=793;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.91;ReadPosRankSum=0.234;SOR=0.727	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1072	20	0	1	0
chr4	162111346	162111346	C	G	exonic	FSTL5	.	nonsynonymous SNV	FSTL5:NM_001128427:exon2:c.G51C:p.E17D	.	.	432	1073	14	3	0	20	0.00923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.0	B	0.001	B	0.504	N	1.000	N	0	N	-0.65	T	-1.046	T	0.083	T	0.121	-0.414	2.069	-2.26	-0.753	-0.188	4.400	0.090	0.0171719240118	0.0040	0.000798722	0.0035	0.0007	0.0016	0	0.0008	0.0056	0.0066	0.0008	0.0034928	540	154602	rs140747357	0.0046	0.0046	0.0046	0.0045	0.0092	0.0045	0.0044	0.0072	0.0065	0.0005	0.0014	0.0004	7.573e-05	0.0011	0.0092	0.0055	0.0039	0.0014	0.0029	0.0029	0.0031	0.0028	0.0049	0.0027	0.0026	0.0045	0.0043	0.0008	0	0.0028	0	0	0.0011	0.0034	0.0049	0.0038	0.0031	0.593	0.05755	T	0.622	0.07394	T	0.0	0.02946	B	0.0	0.01387	B	0.503598	0.11922	N	0.753644	1	0.08975	N	-0.69	0.01958	N	-0.66	0.72568	T	-0.28	0.11547	N	0.125	0.18784	-1.0464	0.15418	T	0.083	0.32671	T	10	0.008194953	0.00186	T	0.017172	0.38759	T	0.090	0.26093	0.314	0.28935	0.624128296751	0.62107	0.3279983060525927	0.32712	0.0521985134838	0.05745	0.384419053793	0.22881	T	0.001312	0.00791	T	-0.558622	0.00259	T	-0.571473	0.15314	T	0.00988444441220362	0.00131	T	0.574842	0.20648	T	0.034992523	0.04035	0.039569393	0.04079	0.034992523	0.04034	0.039569393	0.04078	-4.205	0.26824	T	.	.	0.096	0.20625	B	.;.;.	.;.;.	-0.366743	0.02340	0.252	0.91303730862581245	0.20564	0.29548	0.23851	N	AEFDGHCI	0.124515	0.24061	N	-1.49883974374761	0.01859	0.08151322	-1.40741372545032	0.03177	0.1476865	0.00105930023220377	0.08170	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.51	-2.26	0.06478	-0.097000	0.11010	-0.780000	0.07458	-1.150000	0.01427	0.929000	0.32243	0.000000	0.08366	0.012000	0.09680	0.2402:0.3205:0.0:0.4394	4.400	0.10810	958	0.09170	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	891.98	35	chr4	162111346	.	C	G	891.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=812;ExcessHet=0.0000;FS=2.600;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.50;ReadPosRankSum=0.062;SOR=0.996	GT:AD:DP:GQ:PL	0/1:64,41:105:99:906,0,1459	20	0	1	0
chr4	163128904	163128904	T	G	exonic	NAF1	.	nonsynonymous SNV	NAF1:NM_138386:exon8:c.A1478C:p.Y493S,	.	.	464	1055	3	0	0	3	0.00141978	.	.	1328047	not_specified|NAF1-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.991	D	0.766	P	0.020	N	1.000	D	0.975	L	1.0	T	-0.816	T	0.090	T	0.799	3.294	17.07	4.04	2.054	1.936	9.691	0.153	.	0.0007	0.00179712	0.0015	0.0001	0.0016	0	0	0.0020	0	0.0010	0.0011837	183	154602	rs143001503	0.0018	0.0018	0.0018	0.0018	0.0025	0.0018	0.0017	0.0020	0.0020	0.0004	0.0020	0.0008	0	0.0004	0.0025	0.0021	0.0014	0.0013	0.0016	0.0015	0.0015	0.0016	0.0051	0.0014	0.0013	0.0040	0.0036	0.0003	0	0.0051	0.0012	0	0.0002	0	0.0020	0.0023	0.0012	0.0	0.91255	D	0.124	0.35455	T	0.991	0.64070	D	0.766	0.56676	P	0.019652	0.27210	N	0.310366	0.644787	0.81001	D	2.3	0.65703	M	1.0	0.41392	T	-0.83	0.22727	N	0.611	0.62781	-0.8159	0.54189	T	0.090	0.34683	T	10	0.010709286	0.00237	T	.	.	.	0.153	0.40148	.	.	0.81742776106	0.81570	0.47445367070090955	0.47364	0.536272819218	0.50962	0.65680706501	0.60953	T	0.036118	0.23981	T	-0.209505	0.19447	T	-0.0795738	0.64935	T	0.0463365780933892	0.04844	T	0.485551	0.14815	T	0.22657369	0.45341	0.24215792	0.49630	0.22657369	0.45341	0.24215792	0.49628	-2.843	0.08586	T	.	.	0.164	0.36275	B	.	.	4.388635	0.67704	25.1	0.98948520044590937	0.49093	0.76833	0.37715	D	AEFBI	0.139077	0.26056	N	0.337784106014441	0.58097	3.980187	0.333176705790393	0.57499	3.915922	0.00863548147809964	0.11712	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	4.04	4.04	0.46262	2.019000	0.40620	3.662000	0.39410	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	9.691	0.39293	971	0.05719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1317.98	34	chr4	163128904	.	T	G	1317.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=809;ExcessHet=0.0000;FS=0.768;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=1.50;SOR=0.565	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1186	20	0	1	0
chr4	163140244	163140244	A	G	exonic	NAF1	.	nonsynonymous SNV	NAF1:NM_001128931:exon5:c.T857C:p.I286T	.	.	.	.	.	.	.	.	.	.	.	2087793	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.896	P	0.654	P	0.000	D	1.000	D	2.14	M	1.32	T	-0.825	T	0.162	T	0.799	3.728	18.93	5.68	2.175	7.991	15.113	0.373	0.0329276939841	.	.	1.652e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs749825432	1.378e-06	1.368e-06	0	2.772e-06	2.395e-05	2.3e-07	9e-08	3.98e-06	1.49e-06	0	0	0	0	0	0	0	0	2.395e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.004	0.74150	D	0.855	0.47121	P	0.58	0.50189	P	0.000255	0.46924	D	0.211210	0.998999	0.47641	D	2.43	0.70455	M	1.32	0.35775	T	-3.95	0.74269	D	0.918	0.92084	-0.8245	0.53651	T	0.162	0.49781	T	10	0.9031539	0.89679	D	0.032928	0.54619	D	0.373	0.69188	0.766	0.89373	0.444421179237	0.44065	0.5447801127974417	0.54404	0.403537357299	0.41286	0.511040985584	0.40369	T	0.165647	0.57681	T	-0.000921721	0.51528	T	-0.053828	0.66760	D	0.836382269859314	0.49035	D	0.90351	0.67223	D	0.33605447	0.55963	0.33591774	0.59400	0.33605447	0.55963	0.33591774	0.59399	-11.289	0.81219	D	.	.	0.747	0.82830	P	.;.;.	.;.;.	4.627726	0.73545	26.0	0.99823586688262222	0.90590	0.99110	0.91373	D	AEBI	0.879489	0.80547	D	0.653327818214026	0.76585	6.513605	0.68165149352608	0.80986	7.42257	0.999969037723791	0.48965	0.706298	0.61202	0	0.708844	0.79440	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	7.773000	0.84224	11.173000	0.88038	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	15.113	0.72054	972	0.05671	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1084.98	35	chr4	163140244	.	A	G	1084.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.846;DP=761;ExcessHet=0.0000;FS=2.228;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.50;ReadPosRankSum=-5.030e-01;SOR=0.399	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1108	20	0	1	0
chr4	163350321	163350321	G	T	exonic	NPY5R	.	nonsynonymous SNV	NPY5R:NM_001317091:exon4:c.G48T:p.E16D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.031	B	0.01	B	0.042	N	0.740	D	0.345	N	1.16	T	-1.028	T	0.050	T	0.254	1.031	9.210	4.51	1.396	2.423	10.357	0.026	0.00723154167847	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1320973552	2.061e-06	2.052e-06	1.366e-06	2.764e-06	2.709e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.709e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.196	0.27943	T	0.031	0.20130	B	0.01	0.14941	B	0.042022	0.23885	N	0.283113	0.740387	0.33816	D	0.55	0.14455	N	1.16	0.38073	T	-1.36	0.33798	N	0.347	0.40864	-1.0285	0.20940	T	0.050	0.21417	T	10	0.17128772	0.31839	T	0.007232	0.19171	T	0.026	0.05648	0.229	0.15556	0.583710156576	0.58043	0.4376065000164013	0.43677	0.40742714432	0.41602	0.381389856339	0.22453	T	0.145576	0.48277	T	-0.167208	0.25659	T	-0.477959	0.24664	T	0.42228701710701	0.29775	T	0.564244	0.19889	T	0.1272237	0.29776	0.1191614	0.28763	0.1272237	0.29776	0.1191614	0.28763	-3.685	0.19097	T	.	.	0.088	0.12607	B	.;.;.	.;.;.	1.490442	0.19171	14.13	0.99239269204467206	0.56501	0.93178	0.57529	D	AEFBI	0.359637	0.44989	N	-0.396064619801121	0.25608	1.391421	-0.237807766973251	0.30194	1.697937	0.999965082149045	0.48965	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.35	4.51	0.54589	3.010000	0.49246	5.174000	0.47839	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.830000	0.39126	0.1498:0.0:0.8502:0.0	10.357	0.43154	988	0.01987	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1470.98	40	chr4	163350321	.	G	T	1470.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.328;DP=829;ExcessHet=0.0000;FS=6.073;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=-2.491e+00;SOR=1.302	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1273	20	0	1	0
chr4	163350482	163350482	G	A	exonic	NPY5R	.	nonsynonymous SNV	NPY5R:NM_001317091:exon4:c.G209A:p.R70H	.	.	.	.	.	.	.	.	.	.	.	2337219	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	0.957	D	0.523	P	0.000	D	0.998	D	1.96	M	1.01	T	-0.943	T	0.136	T	0.164	3.909	19.88	4.48	1.327	2.994	13.528	0.143	0.00506260334773	.	.	0.0002	0	0	0	0.0002	5.995e-05	0.0011	0.0008	0.0001294	20	154602	rs80086880	6.909e-05	6.909e-05	4.356e-05	9.488e-05	0.0008	5.78e-05	5.391e-05	0.0006	0.0006	2.987e-05	2.236e-05	0	2.519e-05	7.488e-05	0.0005	1.529e-05	8.279e-05	0.0008	2.627e-05	2.625e-05	1.285e-05	4.029e-05	0.0006	8.14e-06	5.14e-06	0.0002	9.007e-05	2.407e-05	0	0	0	0	0	0	0	0	0.0006	0.023	0.48186	D	0.233	0.24913	T	0.957	0.54824	D	0.523	0.48316	P	0.000415	0.44736	D	0.096043	0.99839	0.44860	D	2.09	0.57893	M	1.01	0.41058	T	-2.21	0.49684	N	0.107	0.10056	-0.9433	0.42089	T	0.136	0.45145	T	10	0.17855021	0.32945	T	0.005063	0.12815	T	0.143	0.38195	0.729	0.86286	0.777722146878	0.77567	0.2563984150861352	0.25553	0.258236123232	0.28380	0.301701128483	0.10654	T	0.379825	0.74249	T	-0.435895	0.01367	T	-0.488064	0.23594	T	0.125847831202895	0.14993	T	0.845215	0.52386	T	0.101546936	0.23988	0.111050606	0.26784	0.101546936	0.23988	0.111050606	0.26784	-4.844	0.35100	T	.	.	0.081	0.08176	B	.;.;.	.;.;.	3.750856	0.53764	23.4	0.99914270335025446	0.98309	0.94057	0.59983	D	AEFBI	0.427747	0.49156	N	0.366998084505813	0.59643	4.145402	0.377497324532059	0.60181	4.202826	0.999999493227168	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.35	4.48	0.53973	3.005000	0.49208	7.601000	0.61564	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.998000	0.85391	0.0785:0.0:0.9215:0.0	13.528	0.61061	988	0.01987	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2574.98	40	chr4	163350482	.	G	A	2574.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=1013;ExcessHet=0.0000;FS=1.656;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=2.70;SOR=0.636	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1273	20	0	1	0
chr4	163473665	163473665	G	A	exonic	TKTL2	.	nonsynonymous SNV	TKTL2:NM_032136:exon1:c.C70T:p.R24W,	.	.	.	.	.	.	.	.	.	.	.	3346088	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	U	1.000	D	4.25	H	0.38	T	0.102	D	0.467	T	0.664	3.096	16.34	3.37	2.353	1.626	9.822	0.509	0.0701822757132	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs548015097	1.642e-05	1.642e-05	1.361e-05	1.925e-05	0.0002	1.111e-05	9.33e-06	9.928e-05	7.224e-05	0	2.236e-05	0	0.0002	0	0	3.597e-06	0.0002	0	1.969e-05	1.968e-05	1.284e-05	2.685e-05	0.0002	5.24e-06	2.45e-06	7.97e-06	2.98e-06	4.809e-05	0	0	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000005	0.62929	U	0.000000	0.999992	0.58761	D	4.23	0.97958	H	0.38	0.57575	T	-6.5	0.91609	D	0.871	0.86833	0.102	0.84215	D	0.467	0.79422	T	10	0.88778913	0.88111	D	0.070182	0.70933	D	0.509	0.78910	0.692	0.82938	0.853839970193	0.85243	0.8624926679569759	0.86213	0.571060429895	0.53246	0.466013371944	0.34134	T	0.465227	0.80046	T	0.0992084	0.64207	D	-0.0952704	0.63762	T	0.99931001663208	0.96929	D	0.995	0.98241	D	0.69116503	0.77574	0.5135843	0.71893	0.69116503	0.77576	0.5135843	0.71894	-9.815	0.72796	D	.	.	0.217	0.44682	B	.	.	4.411107	0.68239	25.2	0.99905669574810263	0.97651	0.76575	0.37566	D	AEFDBCI	0.354506	0.44656	N	0.735387586306904	0.81951	7.644	0.571636829832932	0.72914	5.885657	0.997583903122956	0.35786	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.22	3.37	0.37692	1.352000	0.33637	0.968000	0.23038	0.618000	0.50648	1.000000	0.71638	0.011000	0.20116	0.163000	0.20749	0.1051:0.0:0.8949:0.0	9.822	0.40056	987	0.02648	Transketolase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1392.98	35	chr4	163473665	.	G	A	1392.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.100e-01;DP=829;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.01;ReadPosRankSum=-6.760e-01;SOR=0.674	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr4	164197531	164197531	G	T	exonic	ANP32C	.	nonsynonymous SNV	ANP32C:NM_012403:exon1:c.C181A:p.P61T,	.	.	435	1072	15	0	0	15	0.00694766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0071885	0.0048	9.619e-05	0.0003	0	0	5.993e-05	0.0022	0.0348	0.004075	630	154602	rs571268743	0.0021	0.0021	0.0011	0.0031	0.0338	0.0020	0.0020	0.0328	0.0324	5.982e-05	6.714e-05	0	2.521e-05	0	0.0012	3.239e-05	0.0017	0.0338	0.0010	0.0010	0.0004	0.0016	0.0308	0.0009	0.0008	0.0267	0.0252	0	0	0.0002	0	0	0	0	0	0	0.0308	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2598.98	177	chr4	164197531	.	G	T	2598.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.000e-01;DP=2977;ExcessHet=0.0000;FS=0.478;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.06;ReadPosRankSum=-7.200e-01;SOR=0.717	GT:AD:DP:GQ:PL	0/1:131,104:235:99:2613,0,3565	20	0	1	0
chr4	165041118	165041118	G	A	exonic	TRIM60	.	nonsynonymous SNV	TRIM60:NM_152620:exon3:c.G1046A:p.R349Q	.	.	433	1082	6	1	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.001	U	1.000	N	2.14	M	-0.5	T	-0.576	T	0.441	T	0.408	2.941	15.80	1.64	0.607	3.638	7.390	0.275	0.010229271144	0.0014	0.000399361	0.0011	0.0005	0.0006	0	0	0.0017	0.0022	0.0004	0.0010349	160	154602	rs148636261	0.0013	0.0013	0.0012	0.0013	0.0028	0.0012	0.0012	0.0017	0.0014	0.0003	0.0005	0.0073	0	3.744e-05	0.0028	0.0014	0.0012	0.0002	0.0010	0.0010	0.0011	0.0009	0.0015	0.0009	0.0008	0.0013	0.0012	0.0003	0	0.0003	0.0072	0	9.42e-05	0	0.0015	0.0014	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000764	0.41888	U	0.000000	1	0.08975	N	2.735	0.79925	M	-0.5	0.70480	T	-3.83	0.72120	D	0.27	0.31365	-0.5764	0.65760	T	0.441	0.77915	T	10	0.01705432	0.00362	T	0.010229	0.26522	T	0.275	0.59130	.	.	0.682399439722	0.67969	0.14601736312617686	0.14523	0.293245057848	0.31747	0.43987184763	0.30558	T	0.154913	0.49641	T	-0.298052	0.08844	T	-0.230987	0.51678	T	0.0648823815176911	0.07914	T	0.786621	0.42528	T	0.48437026	0.66164	0.3826736	0.63248	0.48437026	0.66165	0.3826736	0.63248	-7.236	0.55739	T	.	.	0.288	0.52010	B	.;.;.;.	.;.;.;.	3.029861	0.40581	21.2	0.99736941757356723	0.83192	0.37174	0.25702	N	AEFBI	0.158287	0.28392	N	-0.162315962413317	0.34711	1.984671	-0.42242944969685	0.24340	1.332336	0.0014323904647785	0.08535	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.49	1.64	0.22949	2.827000	0.47813	4.377000	0.43168	-0.185000	0.09859	0.135000	0.23427	0.817000	0.27092	0.513000	0.29313	0.1423:0.0:0.8577:0.0	7.390	0.26076	969	0.06854	SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain|TRIM60, PRY/SPRY domain;SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain|TRIM60, PRY/SPRY domain;SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain|TRIM60, PRY/SPRY domain;SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain|TRIM60, PRY/SPRY domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1899.98	33	chr4	165041118	.	G	A	1899.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.71;DP=850;ExcessHet=0.0000;FS=2.071;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=1.08;SOR=0.908	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1118	20	0	1	0
chr4	165497573	165497573	A	G	exonic	CPE	.	nonsynonymous SNV	CPE:NM_001873:exon9:c.A1394G:p.E465G,	.	.	432	1088	2	0	0	2	0.000918274	.	.	3192556	CPE-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.799	P	0.214	B	0.000	D	1.000	D	0.895	L	2.54	T	-1.120	T	0.029	T	0.475	3.711	18.85	6.08	2.330	8.232	16.643	0.140	0.0107086443392	0.0003	0.000599042	0.0007	0	0	0	0	0.0008	0.0011	0.0020	0.0006339	98	154602	rs140816537	0.0004	0.0004	0.0003	0.0005	0.0018	0.0004	0.0004	0.0015	0.0014	0	0.0001	0.0017	0	0.0001	0.0004	0.0003	0.0006	0.0018	0.0003	0.0003	0.0002	0.0003	0.0017	0.0002	0.0002	0.0008	0.0006	2.405e-05	0	6.536e-05	0.0012	0	0.0002	0	0.0004	0	0.0017	0.002	0.72154	D	0.013	0.63109	D	0.799	0.44910	P	0.214	0.37471	B	0.000068	0.52346	D	0.166096	1	0.81001	D	1.32	0.33002	L	2.54	0.13916	T	-1.25	0.31576	N	0.242	0.27316	-1.1198	0.02344	T	0.029	0.12409	T	10	0.018993288	0.00419	T	0.010709	0.27557	T	0.140	0.37593	.	.	0.165150595986	0.16160	0.8576098171831829	0.85723	0.666500385418	0.59201	0.721552371979	0.70273	T	0.288121	0.66092	T	-0.385288	0.02884	T	-0.34523	0.39752	T	0.06687017300602	0.08205	T	0.883612	0.60617	D	0.20898059	0.43151	0.26297233	0.52096	0.20898059	0.43150	0.26297233	0.52095	-4.24	0.27327	T	.	.	0.144	0.31683	B	.	.	4.236662	0.64195	24.7	0.99654900755156828	0.77568	0.98216	0.80621	D	AEFBI	0.944763	0.95224	D	0.421605563874999	0.62611	4.47992	0.555866312360574	0.71805	5.711389	0.999999482510968	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	6.08	6.08	0.98982	8.514000	0.90373	11.164000	0.87745	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.643	0.84991	982	0.03397	Peptidase M14, carboxypeptidase A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	534.98	33	chr4	165497573	.	A	G	534.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.049e+00;DP=735;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=-1.659e+00;SOR=0.776	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1137	20	0	1	0
chr4	168378476	168378476	C	T	splicing	DDX60L	NM_001378072:exon34:c.4367-1G>A;NM_001012967:exon33:c.4364-1G>A;NM_001345927:exon33:c.4367-1G>A	.	.	.	.	579	939	4	0	0	4	0.0021254	1.0000	0.684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.773	D	.	.	.	.	.	.	.	.	.	0.148	4.797	1.43	0.011	1.357	7.137	.	.	0.0002	0.000399361	0.0012	0.0002	0.0010	0	0	0.0021	0	0.0004	0.0005175	80	154602	rs192148683	0.0005	0.0005	0.0005	0.0005	0.0184	0.0005	0.0005	0.0155	0.0145	0.0004	0.0006	0.0068	0	0	0.0184	0.0003	0.0014	0.0003	0.0006	0.0006	0.0006	0.0005	0.0009	0.0005	0.0004	0.0006	0.0004	4.818e-05	0	0.0009	0.0061	0	0	0.0136	0.0005	0.0019	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.772807	0.34171	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.626705	0.00100	T	-0.76573	0.02911	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.000160	0.40085	21.1	0.6230697411326791	0.06929	0.10863	0.16245	N	AEFBI	.	.	.	0.181864671150474	0.50329	3.223884	-0.202082298553919	0.31461	1.780731	0.95301948726754	0.28049	0.106106	0.02776	0	0.063388	0.01293	0	0.063197	0.01477	0	0.109871	0.03346	0	0.0966614	0.21662	3.36	1.43	0.21585	1.377000	0.33923	1.786000	0.28758	0.454000	0.21428	0.446000	0.26534	0.996000	0.32793	0.014000	0.10232	0.1816:0.7213:0.0:0.0971	7.137	0.24710	976	0.04745	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	316.98	36	chr4	168378476	.	C	T	316.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.135;DP=856;ExcessHet=0.0000;FS=1.309;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.13;ReadPosRankSum=0.563;SOR=0.452	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1049	20	0	1	0
chr4	168421789	168421789	C	T	exonic	DDX60L	.	nonsynonymous SNV	DDX60L:NM_001012967:exon17:c.G2365A:p.G789R	.	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	1.0	D	0.002	U	0.659	D	2.11	M	2.5	T	-0.865	T	0.092	T	0.552	2.364	13.86	3.96	1.753	2.241	15.611	0.243	0.0166254589882	.	.	7.422e-05	0	8.639e-05	0	0	0.0001	0	6.058e-05	5.82e-05	9	154602	rs375977740	6.567e-05	6.567e-05	6.534e-05	6.6e-05	0.0014	5.495e-05	5.107e-05	0.0007	0.0005	2.987e-05	6.708e-05	0	0	0	0.0014	6.385e-05	0.0001	5.797e-05	5.911e-05	5.906e-05	6.425e-05	5.373e-05	0.0002	3.076e-05	2.209e-05	1.972e-05	1.124e-05	7.218e-05	0	0	0	0	9.43e-05	0	5.88e-05	0	0.0002	0.005	0.72154	D	0.003	0.92824	D	.	.	.	.	.	.	0.001619	0.38497	U	0.000000	0.658597	0.33030	D	.	.	.	2.5	0.14408	T	-6.13	0.92173	D	0.59	0.62357	-0.8646	0.50930	T	0.092	0.35119	T	10	0.39681447	0.55285	T	0.016625	0.37977	T	0.243	0.54921	0.621	0.75576	0.163833314356	0.15978	0.31295354729866975	0.31208	0.193922154726	0.21726	0.499893784523	0.38813	T	0.069889	0.33824	T	-0.232354	0.16338	T	-0.366987	0.37240	T	0.731299996376038	0.42277	D	0.969303	0.88939	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.67877	A	.;.;.;.	.;.;.;.	3.052641	0.40963	21.3	0.99833107683497135	0.91456	0.03827	0.09170	N	ALL	0.292228	0.40315	N	0.173487452203899	0.49930	3.188009	-0.00115636148338605	0.39665	2.355187	1.0	0.98316	0.730579	0.87903	0	0.588015	0.36545	0	0.550215	0.18615	0	0.648885	0.59868	0	.	.	3.96	3.96	0.45097	2.295000	0.43236	1.275000	0.25315	0.433000	0.20966	0.606000	0.27796	0.002000	0.18203	0.008000	0.08271	0.0:1.0:0.0:0.0	15.611	0.76461	975	0.05339	.;.;.;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1700.98	34	chr4	168421789	.	C	T	1700.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.990e-01;DP=830;ExcessHet=0.0000;FS=0.643;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=-3.270e-01;SOR=0.770	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1309	20	0	1	0
chr4	168685497	168685497	A	T	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001166109:exon5:c.A127T:p.T43S	.	.	423	1068	30	1	0	32	0.0147601	.	.	133552	not_provided|not_specified|Pancreatic_cancer,_susceptibility_to,_1	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011739,MedGen:C1847351,OMIM:606856,Orphanet:1333	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.11	T	0.992	D	0.784	P	0.006	U	1.000	N	2.24	M	0.07	T	0.256	D	0.705	D	0.507	3.524	18.00	4.59	1.025	4.535	11.751	0.406	.	0.0041	0.000998403	0.0045	0.0005	0.0014	0	0.0003	0.0052	0.0055	0.0104	0.0043078	666	154602	rs140454899	0.0045	0.0046	0.0042	0.0048	0.0151	0.0044	0.0044	0.0125	0.0116	0.0006	0.0014	0.0171	0	0.0002	0.0151	0.0042	0.0046	0.0117	0.0033	0.0033	0.0033	0.0033	0.0122	0.0031	0.0030	0.0097	0.0088	0.0006	0	0.0012	0.0170	0	0.0003	0.0136	0.0048	0.0033	0.0122	0.045	0.56456	D	0.214	0.51421	T	.	.	.	.	.	.	0.005513	0.32736	U	0.000000	0.99029	0.41128	D	2.52	0.73523	M	-0.2	0.90679	T	-2.06	0.63438	N	0.483	0.52563	0.256	0.86843	D	0.705	0.89845	D	10	0.008006901	0.00182	T	.	.	.	0.406	0.71869	0.395	0.42099	0.730755731289	0.72836	0.32164990047811104	0.32077	0.224784248059	0.25013	0.341352850199	0.16640	T	0.037637	0.43041	T	-0.19593	0.21392	T	-0.0438291	0.67442	D	0.0487915056048183	0.05286	T	0.638236	0.40827	T	.	.	.	.	.	.	.	.	-6.342	0.53380	T	.	.	0.132	0.35972	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.119230	0.42106	21.5	0.99499971366976614	0.67973	0.98482	0.83244	D	AEFGBCI	0.620054	0.60526	D	0.378125725395134	0.60238	4.210615	0.368675571032923	0.59639	4.143637	0.999999989579635	0.74766	0.638212	0.43195	0	0.48864	0.07623	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.77	4.59	0.56297	4.575000	0.60619	7.045000	0.57350	0.686000	0.82685	1.000000	0.71638	1.000000	0.68203	0.677000	0.33454	0.9313:0.0:0.0687:0.0	11.751	0.51117	968	0.07033	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	2608.98	38	chr4	168685497	.	A	T	2608.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.150e-01;DP=897;ExcessHet=0.0000;FS=3.234;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.04;ReadPosRankSum=0.260;SOR=0.497	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1292	20	0	1	0
chr4	168898668	168898668	T	C	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.T254C:p.M85T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.979	D	0.777	P	0.002	U	1.000	D	-0.545	N	1.65	T	-0.694	T	0.210	T	0.766	-0.222	2.926	5.55	2.107	6.186	15.690	0.279	0.0397687347451	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs781250247	2.07e-06	2.056e-06	4.124e-06	0	2.726e-06	5.5e-07	1.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.726e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.12428	T	0.463	0.23707	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999968	0.81001	D	.	.	.	-0.55	0.71068	T	-2.21	0.72594	N	0.834	0.82964	-0.6935	0.60745	T	0.210	0.56933	T	10	0.30150113	0.47692	T	0.039769	0.58997	D	0.279	0.59619	.	.	0.641199583376	0.63823	0.5348204186873708	0.53407	0.808502915327	0.66620	0.717784404755	0.69723	T	0.08085	0.36460	T	0.141406	0.68459	D	-0.0346559	0.68059	D	0.576772583678845	0.35494	D	0.686731	0.31793	T	.	.	.	.	.	.	.	.	-8.267	0.67607	D	.	.	0.751	0.78309	P	.;.;.;.;.;.	.;.;.;.;.;.	4.050325	0.60035	24.2	0.84874175254793893	0.15549	0.97797	0.77204	D	AEFBI	0.776798	0.70979	D	0.146184386989402	0.48631	3.07305	0.269934385284283	0.53793	3.546451	0.99999999424337	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	6.167000	0.71757	6.181000	0.54632	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.742000	0.35507	0.0:0.0:0.0:1.0	15.690	0.77200	949	0.11373	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	209.61	37	chr4	168898668	.	T	C	209.61	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.488e+00;DP=1274;ExcessHet=0.6776;FS=85.472;InbreedingCoeff=-0.0993;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.59;ReadPosRankSum=0.512;SOR=9.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,18:88:99:0|1:168898668_T_C:129,0,2366:168898668	17	0	4	0
chr4	168898669	168898669	G	A	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.G255A:p.M85I	.	.	.	.	.	.	.	.	.	.	.	1845107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.476	P	0.223	B	0.002	U	1.000	D	1.65	L	1.58	T	-0.539	T	0.308	T	0.638	1.750	11.81	5.55	2.607	7.876	19.497	0.201	0.0305366275154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.21801	T	0.479	0.55759	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999973	0.81001	D	.	.	.	-0.62	0.71895	T	-1.59	0.56787	N	0.698	0.70263	-0.5390	0.67201	T	0.308	0.67867	T	10	0.359553	0.52621	T	0.030537	0.52827	D	0.201	0.48592	.	.	0.711221558017	0.70869	0.507454384894299	0.50667	0.790969623184	0.65777	0.635476946831	0.57922	T	0.084931	0.37388	T	0.0964953	0.63912	D	-0.0991676	0.63462	T	0.720881402492523	0.41743	D	0.822018	0.50309	T	.	.	.	.	.	.	.	.	-9.058	0.70411	D	.	.	0.834	0.80161	P	.;.;.;.;.;.	.;.;.;.;.;.	4.080126	0.60688	24.2	0.96356890166856102	0.29537	0.98354	0.81929	D	AEFBI	0.905065	0.85613	D	0.294826853967169	0.55886	3.752753	0.408467051562211	0.62091	4.418906	0.999999980908939	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	8.002000	0.88029	11.829000	0.97466	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.714000	0.34579	0.0:0.0:1.0:0.0	19.497	0.95071	949	0.11373	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	845.61	55	chr4	168898669	.	G	A	845.61	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.973e+00;DP=1311;ExcessHet=0.6776;FS=114.106;InbreedingCoeff=-0.0993;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=2.24;ReadPosRankSum=0.566;SOR=9.624	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,18:88:99:0|1:168898668_T_C:129,0,2366:168898668	17	0	4	0
chr4	169400346	169400346	T	G	exonic	NEK1	.	nonsynonymous SNV	NEK1:NM_001374421:exon30:c.A3243C:p.E1081D	Short-rib thoracic dysplasia 6 with or without polydactyly, Autosomal recessive, Digenic recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.998	D	0.000	D	1.000	D	2.125	M	0.4	T	-0.615	T	0.281	T	0.436	3.756	19.07	2.1	0.461	0.832	8.711	0.162	0.0248832996097	.	0.000199681	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs561314669	5.845e-06	5.474e-06	7.192e-06	4.454e-06	0.0002	2.51e-06	1.82e-06	2.04e-06	1.34e-06	0	2.876e-05	0	0	0	0.0002	5.681e-06	0	0	6.563e-06	6.561e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.048	0.40573	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.88582	D	0.000018	0.62929	D	0.000000	0.999568	0.47592	D	2.42	0.70002	M	0.4	0.57261	T	-1.55	0.37759	N	0.617	0.69125	-0.6150	0.64196	T	0.281	0.65299	T	10	0.32100427	0.49469	T	0.024883	0.47865	T	0.162	0.41843	0.221	0.14371	0.511848488485	0.50826	0.3341048784908643	0.33323	0.342150454951	0.36147	0.645237386227	0.59309	T	0.156201	0.49827	T	-0.128448	0.31748	T	-0.29714	0.45026	T	0.851715683937073	0.50314	D	0.96937	0.89015	D	0.13965441	0.32251	0.10849201	0.26135	0.13965441	0.32251	0.10849201	0.26135	-4.958	0.37791	T	0.7045821333029897	0.78402	0.609	0.76654	P	.;.;.;.;.	.;.;.;.;.	3.561856	0.50119	22.9	0.99843109568648181	0.92316	0.93169	0.57505	D	AEFGBHCI	0.454928	0.50743	N	0.385912399145286	0.60657	4.257159	0.316895504317818	0.56533	3.816671	0.999991317548279	0.74766	0.651	0.46895	0	0.522029	0.08744	0	0.618467	0.43123	0	0.683762	0.67416	0	.	.	5.73	2.1	0.26226	0.824000	0.27034	1.445000	0.26559	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.2196:0.0:0.7804	8.711	0.33543	963	0.08280	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	515.98	49	chr4	169400346	.	T	G	515.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.076e+00;DP=738;ExcessHet=0.0000;FS=2.424;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=-8.920e-01;SOR=0.552	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,942	20	0	1	0
chr4	169433624	169433624	C	T	exonic	NEK1	.	nonsynonymous SNV	NEK1:NM_001374421:exon24:c.G2323A:p.G775R	Short-rib thoracic dysplasia 6 with or without polydactyly, Autosomal recessive, Digenic recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.008	B	0.005	B	0.695	N	1.000	N	0.41	N	-0.27	T	-0.979	T	0.156	T	0.053	1.157	9.711	-4.06	-0.705	0.602	13.557	0.117	0.0249401505495	.	.	8.305e-06	0	0	0	0	1.503e-05	0	0	6.5e-06	1	154602	rs752830071	1.3e-05	1.3e-05	1.498e-05	1.101e-05	0.0003	8.32e-06	6.7e-06	6.099e-05	2.524e-05	0	2.236e-05	0	0	0	0.0003	1.349e-05	1.658e-05	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	1.47e-05	0	0	0.343	0.13834	T	0.501	0.11153	T	0.001	0.14655	B	0.002	0.11217	B	0.695417	0.06171	N	1.161110	1	0.08975	N	0.375	0.12094	N	-0.27	0.67712	T	-0.32	0.13611	N	0.026	0.06454	-0.9787	0.35299	T	0.156	0.48807	T	10	0.06366277	0.08326	T	0.02494	0.47924	T	0.117	0.32689	0.052	0.00113	0.558342666981	0.55495	0.023906102697269175	0.02341	0.062132196771	0.06914	0.236442580819	0.02479	T	0.038653	0.24916	T	-0.30317	0.08363	T	-0.590394	0.13631	T	0.02988499095839	0.01971	T	0.737626	0.35462	T	0.07507729	0.16890	0.06736327	0.13927	0.07507729	0.16890	0.06736327	0.13926	-4.27	0.28093	T	0.12679892857863995	0.12867	0.067	0.06942	B	.;.;.;.;.	.;.;.;.;.	0.776407	0.11463	8.069	0.53384445741817477	0.04929	0.00534	0.02469	N	AEFI	0.028899	0.02629	N	-1.15316192700333	0.05728	0.2618932	-1.20080478017383	0.05898	0.2823223	0.983745138953857	0.30608	0.638212	0.43195	0	0.633656	0.55848	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.65	-4.06	0.03718	0.505000	0.22352	-0.235000	0.10642	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:0.2921:0.0:0.7079	13.557	0.61225	907	0.22727	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1344.98	35	chr4	169433624	.	C	T	1344.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.930e-01;DP=806;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=0.430;SOR=0.760	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1273	20	0	1	0
chr4	173314153	173314153	C	A	exonic	GALNT7	.	nonsynonymous SNV	GALNT7:NM_001375601:exon6:c.C1204A:p.P402T	.	.	429	1066	26	1	0	28	0.012963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.932	P	0.472	P	0.000	U	1.000	D	2.275	M	-1.14	T	-0.382	T	0.334	T	0.81	4.767	26.7	5.6	2.635	6.079	19.605	0.185	0.0424557106276	0.0020	0.00139776	0.0026	0.0009	0.0053	0	0.0012	0.0028	0.0044	0.0029	0.0025744	398	154602	rs144873913	0.0025	0.0025	0.0024	0.0025	0.0125	0.0024	0.0024	0.0102	0.0093	0.0006	0.0035	0.0033	0	0.0020	0.0125	0.0024	0.0030	0.0031	0.0023	0.0023	0.0024	0.0022	0.0029	0.0021	0.0020	0.0026	0.0025	0.0006	0.0417	0.0027	0.0026	0	0.0013	0.0204	0.0029	0.0043	0.0021	0.003	0.68238	D	0.116	0.36497	T	0.932	0.51990	P	0.472	0.46817	P	0.000002	0.62929	U	0.000000	1	0.81001	D	2.565	0.75005	M	-1.14	0.77843	T	-6.37	0.91058	D	0.649	0.66016	-0.3823	0.72580	T	0.334	0.70076	T	10	0.012086481	0.00261	T	0.042456	0.60473	D	0.552	0.81485	.	.	0.910025004601	0.90912	0.628387726119353	0.62771	1.05970399513	0.76441	0.590584754944	0.51576	T	0.122745	0.44663	T	-0.0765548	0.40274	T	0.121263	0.78317	D	0.0585426611486209	0.06937	T	0.953005	0.82069	D	0.73707664	0.80125	0.50029296	0.71110	0.73707664	0.80127	0.50029296	0.71110	-7.207	0.55532	T	.	.	0.208	0.43435	B	.	.	4.037918	0.59763	24.1	0.99769056150810109	0.85750	0.98353	0.81919	D	AEFBI	0.751586	0.69235	D	0.514766814019681	0.67962	5.152233	0.577936793563378	0.73361	5.957862	0.999999999999998	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.6	5.6	0.84997	6.159000	0.71664	4.031000	0.41338	0.596000	0.33519	1.000000	0.71638	0.999000	0.35428	0.998000	0.85391	0.0:1.0:0.0:0.0	19.605	0.95572	912	0.21483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	480.98	35	chr4	173314153	.	C	A	480.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.595;DP=770;ExcessHet=0.0000;FS=1.012;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.52;ReadPosRankSum=0.742;SOR=0.512	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1072	20	0	1	0
chr4	174259787	174259787	T	C	exonic	FBXO8	.	nonsynonymous SNV	FBXO8:NM_012180:exon3:c.A368G:p.N123S,	.	.	441	1040	41	0	0	41	0.0193305	.	.	709238	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.69	T	0.044	B	0.018	B	0.000	D	1.000	D	1.445	L	0.62	T	-1.023	T	0.082	T	0.175	2.796	15.31	5.3	2.140	5.384	15.552	0.067	.	0.0031	0.00399361	0.0048	0.0006	0.0030	0.0002	0.0012	0.0051	0.0099	0.0115	0.0046248	715	154602	rs61748174	0.0046	0.0046	0.0043	0.0049	0.0252	0.0045	0.0045	0.0219	0.0206	0.0011	0.0026	0.0128	2.525e-05	0.0010	0.0252	0.0041	0.0055	0.0126	0.0035	0.0035	0.0036	0.0033	0.0118	0.0032	0.0031	0.0094	0.0085	0.0010	0	0.0023	0.0124	0.0004	0.0009	0.0068	0.0048	0.0057	0.0118	0.176	0.22312	T	0.825	0.09425	T	0.044	0.21686	B	0.011	0.15521	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	1.355	0.33814	L	0.62	0.53302	T	0.44	0.14000	N	0.333	0.37405	-1.0227	0.22834	T	0.082	0.32178	T	10	0.00788039	0.00179	T	.	.	.	0.067	0.19503	.	.	0.597428956802	0.59422	0.5794341773884957	0.57872	0.47075830879	0.46345	0.559513449669	0.47200	T	0.056233	0.30230	T	-0.466853	0.00890	T	-0.433983	0.29485	T	0.0275765039054513	0.01626	T	0.887111	0.61484	D	0.22652934	0.45335	0.11510894	0.27788	0.22652934	0.45335	0.11510894	0.27787	-2.551	0.08711	T	.	.	0.076	0.15966	B	.;.;.;.	.;.;.;.	2.360029	0.30268	18.38	0.99134769933955058	0.53356	0.91582	0.53830	D	AEFDGBHCI	0.645724	0.62152	D	-0.0812770085505523	0.38214	2.234735	0.108946617168113	0.45004	2.771491	0.999999999999955	0.74766	0.743674	0.98306	0	0.724815	0.89359	0	0.618467	0.43123	0	0.584449	0.35598	0	.	.	5.3	5.3	0.74745	5.347000	0.65768	5.095000	0.47387	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.552	0.75899	637	0.64373	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1397.11	35	chr4	174259787	.	T	C	1397.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.276;DP=786;ExcessHet=0.1072;FS=2.255;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=0.901;SOR=0.914	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,985	19	0	2	0
chr4	174493176	174493176	T	C	exonic	HPGD	.	nonsynonymous SNV	HPGD:NM_001256306:exon4:c.A433G:p.M145V	Cranioosteoarthropathy, Autosomal recessive;Digital clubbing, isolated congenital, Autosomal recessive;Hypertrophic osteoarthropathy, primary, autosomal recessive 1, Autosomal recessive	.	62	1459	1	0	0	1	0.000342583	.	.	1365592	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.55	T	0.105	B	0.015	B	0.000	D	1.000	D	1.245	L	-1.29	T	-0.691	T	0.318	T	0.687	1.478	10.89	4.54	0.977	2.747	12.019	0.349	0.0349172108352	7.7e-05	.	3.326e-05	0	0	0	0	6.43e-05	0	0	2.59e-05	4	154602	rs370867205	4.902e-05	4.857e-05	5.087e-05	4.716e-05	0.0042	3.962e-05	3.638e-05	0.0029	0.0025	0	0	0	0	0	0.0042	3.632e-05	6.676e-05	3.501e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	1.471e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.471e-05	0.0005	0	0.296	0.35537	T	0.603	0.14456	T	0.0	0.02946	B	0.0	0.01387	B	0.000001	0.84330	D	0.128541	0.995348	0.81001	D	1.33	0.33268	L	-1.29	0.79475	T	-0.64	0.22508	N	0.64	0.67304	-0.6911	0.60857	T	0.318	0.68787	T	10	0.21078235	0.37484	T	0.034917	0.55999	D	0.349	0.67049	.	.	0.525973692452	0.52243	0.5075757903341275	0.50679	0.0274467866167	0.02809	0.43360131979	0.29701	T	0.215206	0.57701	T	0.0503598	0.58390	T	-0.0553796	0.66653	D	0.0932510919556834	0.11599	T	0.809319	0.45944	T	0.41012442	0.61427	0.2785896	0.53821	0.41012442	0.61427	0.2785896	0.53820	-3.761	0.35735	T	.	.	0.199	0.42433	B	.;.;.;.;.;.	.;.;.;.;.;.	1.852702	0.23538	16.05	0.9091638005888999	0.20165	0.81029	0.40522	D	AEFI	0.576449	0.57844	D	-0.257970298445316	0.30787	1.719906	-0.0802910782846611	0.36206	2.104076	0.999986842006005	0.51787	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.73	4.54	0.55220	3.467000	0.52842	2.481000	0.32940	0.665000	0.62972	1.000000	0.71638	0.998000	0.33993	0.989000	0.64315	0.1295:0.0:0.0:0.8705	12.019	0.52627	905	0.23532	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	683.98	34	chr4	174493176	.	T	C	683.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=821;ExcessHet=0.0000;FS=3.010;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.34;ReadPosRankSum=1.99;SOR=1.044	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1097	20	0	1	0
chr4	174495613	174495613	C	T	exonic	HPGD	.	nonsynonymous SNV	HPGD:NM_001256306:exon3:c.G229A:p.V77I	Cranioosteoarthropathy, Autosomal recessive;Digital clubbing, isolated congenital, Autosomal recessive;Hypertrophic osteoarthropathy, primary, autosomal recessive 1, Autosomal recessive	.	2	1517	3	0	0	3	0.000987817	.	.	273624	Hypertrophic_osteoarthropathy,_primary,_autosomal_recessive,_1|Isolated_congenital_digital_clubbing|not_provided	MONDO:MONDO:0024546,MedGen:C4551679,OMIM:259100,Orphanet:1525,Orphanet:2796|MONDO:MONDO:0007343,MedGen:C0345408,OMIM:119900,Orphanet:217059|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.41	T	0.01	B	0.004	B	0.017	N	1.000	D	0.075	N	-1.33	T	-0.846	T	0.259	T	0.287	0.652	7.496	3.08	0.772	1.310	8.829	0.111	0.0900749673212	0.0005	0.000399361	0.0004	0.0002	0.0010	0.0005	0	0.0003	0.0011	0.0002	0.0003234	50	154602	rs139715202	0.0003	0.0003	0.0003	0.0003	0.0013	0.0003	0.0003	0.0010	0.0009	5.983e-05	0.0009	7.656e-05	0.0013	1.874e-05	0.0009	0.0003	0.0004	0.0002	0.0003	0.0003	0.0003	0.0002	0.0008	0.0002	0.0002	0.0003	0.0002	9.624e-05	0	0.0002	0	0.0008	9.429e-05	0	0.0004	0.0009	0	0.521	0.09346	T	0.481	0.15157	T	0.001	0.07471	B	0.001	0.04355	B	0.016697	0.27912	N	0.388831	1	0.81001	D	-0.35	0.03145	N	-1.6	0.82165	D	-0.1	0.08495	N	0.177	0.19055	-0.8456	0.52270	T	0.259	0.62944	T	10	0.02402851	0.00647	T	0.090075	0.75450	D	0.111	0.31313	.	.	0.548145191872	0.54469	0.6093699688386278	0.60868	0.0241015122764	0.02450	0.351416379213	0.18130	T	0.303	0.67547	T	-0.335822	0.05682	T	-0.314353	0.43190	T	0.01064647176652	0.00149	T	0.738826	0.55431	T	0.1840397	0.39701	0.07600441	0.16789	0.1840397	0.39700	0.07600441	0.16788	-4.304	0.28232	T	.	.	0.14	0.30686	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.797592	0.22847	15.79	0.86989229354742137	0.16911	0.72269	0.35379	D	AEFI	0.249437	0.36967	N	-0.586590569438627	0.19350	1.012079	-0.420673637113784	0.24390	1.335382	0.989887810267839	0.31965	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.77	3.08	0.34576	1.074000	0.30315	1.446000	0.26567	0.547000	0.25779	0.908000	0.31627	0.319000	0.24313	0.042000	0.14466	0.1212:0.7465:0.0:0.1323	8.829	0.34231	915	0.20917	Short-chain dehydrogenase/reductase, conserved site;.;.;.;.;Short-chain dehydrogenase/reductase, conserved site;Short-chain dehydrogenase/reductase, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	543.98	33	chr4	174495613	.	C	T	543.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.85;DP=732;ExcessHet=0.0000;FS=2.477;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.71;ReadPosRankSum=-5.390e-01;SOR=1.232	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1171	20	0	1	0
chr4	174977728	174977728	T	C	exonic	ADAM29	.	nonsynonymous SNV	ADAM29:NM_001278127:exon2:c.T2203C:p.W735R	.	.	430	1082	8	0	2	10	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	.	.	1.000	N	0	N	4.68	T	-0.920	T	0.002	T	0.026	-2.714	0	-4.26	-2.393	0.161	0.256	0.027	.	0.0038	0.00319489	0.0001	0	8.706e-05	0	0.0003	0.0002	0	0.0002	0.0008344	129	154602	rs113482601	0.0005	0.0008	0.0005	0.0005	0.0034	0.0004	0.0004	0.0022	0.0019	0.0002	0.0002	0.0008	2.519e-05	0	0.0034	0.0005	0.0006	6.992e-05	7.251e-05	0.0002	5.159e-05	9.437e-05	0.0002	3.984e-05	3.136e-05	2.266e-05	1.128e-05	4.827e-05	0.0011	0.0001	0	0.0002	0	0.0034	5.903e-05	0	0	0.871	0.02600	T	0.621	0.07419	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	4.68	0.01715	T	0.34	0.03824	N	0.041	0.01421	-0.9202	0.45527	T	0.002	0.00615	T	8	0.0067432225	0.00153	T	.	.	.	0.027	0.05988	0.257	0.19845	0.0846915920261	0.08053	0.07628895574328291	0.07564	0.128444013849	0.14485	0.228466108441	0.01857	T	0.001444	0.00900	T	-0.779423	0.00011	T	-0.891273	0.00566	T	0.0317340626870637	0.02263	T	0.236776	0.03305	T	0.033284824	0.03517	0.040831354	0.04502	0.033284824	0.03517	0.040831354	0.04502	0.343	0.00248	T	.	.	0.074	0.06250	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.457493	0.02008	0.178	0.35562432872122884	0.02239	0.00093	0.00613	N	AEFBI	0.025223	0.01693	N	-1.72470029829658	0.00758	0.03272598	-1.82886559869969	0.00671	0.02985405	0.00180758349572003	0.08901	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.13	-4.26	0.03497	-0.592000	0.05841	-2.033000	0.04315	-1.573000	0.00930	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2496:0.1593:0.25:0.341	0.256	0.00196	960	0.08626	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	9615.98	38	chr4	174977728	.	T	C	9615.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=1240;ExcessHet=0.0000;FS=2.244;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.44;MQRankSum=0.00;QD=18.74;ReadPosRankSum=-5.757e+00;SOR=0.410	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1248	20	0	1	0
chr4	174977762	174977762	C	T	exonic	ADAM29	.	nonsynonymous SNV	ADAM29:NM_001278127:exon2:c.C2237T:p.T746M	.	.	436	1072	14	0	0	14	0.00648749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.991	D	0.5	P	.	.	1.000	N	0	N	4.5	T	-0.850	T	0.005	T	0.236	0.866	8.511	0.582	-0.059	-0.798	6.178	0.053	0.00347788547916	.	.	0.0007	0	0.0004	0	0	0.0005	0.0022	0.0026	7.76e-05	12	154602	rs142711835	0.0004	0.0004	0.0002	0.0005	0.0065	0.0003	0.0003	0.0048	0.0042	0	0.0004	0.0007	0	1.874e-05	0.0065	0.0001	0.0008	0.0029	0.0002	0.0003	0.0002	0.0003	0.0031	0.0002	0.0002	0.0019	0.0016	2.415e-05	0	0.0004	0.0003	0	0	0.0035	0.0002	0.0010	0.0031	0.138	0.25873	T	0.009	0.66756	D	0.991	0.64070	D	0.5	0.47649	P	.	.	.	.	1	0.08975	N	0	0.06538	N	4.5	0.02032	T	-0.17	0.09627	N	0.24	0.27077	-0.8499	0.51975	T	0.005	0.01651	T	8	0.0114863515	0.00251	T	0.003478	0.07878	T	0.053	0.14996	.	.	0.209622950755	0.20551	0.09652196550229174	0.09584	0.0750720904169	0.08422	0.265156507492	0.05521	T	0.002436	0.01826	T	-0.613562	0.00120	T	-0.659663	0.08290	T	0.0399643401919718	0.03683	T	0.585041	0.21304	T	0.016273126	0.00187	0.029660968	0.01328	0.016273126	0.00187	0.029660968	0.01328	-4.435	0.30028	T	.	.	0.077	0.06663	B	.;.;.;.;.;.	.;.;.;.;.;.	0.610561	0.09792	6.556	0.96266335432899974	0.29234	0.00393	0.01973	N	AEFBI	0.024951	0.01629	N	-0.783625961754949	0.13736	0.6788855	-0.979396958444803	0.10248	0.5149442	2.33857128395381E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.54	0.582	0.16594	-0.240000	0.08970	-4.095000	0.02345	0.437000	0.21030	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.802:0.0:0.198	6.178	0.19672	960	0.08626	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05	16340.8	38	chr4	174977762	.	C	T	16340.8	.	AC=2;AF=0.050;AN=40;BaseQRankSum=1.23;DP=2474;ExcessHet=0.1072;FS=1.108;InbreedingCoeff=-0.0633;MLEAC=2;MLEAF=0.050;MQ=59.99;MQRankSum=0.00;QD=12.66;ReadPosRankSum=0.833;SOR=0.613	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1248	18	0	2	1
chr4	174977778	174977778	T	A	exonic	ADAM29	.	nonsynonymous SNV	ADAM29:NM_001278127:exon2:c.T2253A:p.H751Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	.	.	1.000	N	0	N	4.62	T	-0.909	T	0.003	T	0.025	-2.108	0.006	-1.07	-1.677	-1.668	0.106	0.056	0.00187006743468	0.0016	.	1.66e-05	0	0	0	0	3.029e-05	0	0	0.0007684	20	26028	rs111234222	4.162e-06	0.0007	4.141e-06	4.183e-06	2.338e-05	1.5e-06	9.8e-07	3.88e-06	1.45e-06	0	0	0	0	0	0	2.738e-06	1.685e-05	2.338e-05	0.0005	0.0038	0.0006	0.0005	0.0008	0.0004	0.0004	0.0005	0.0004	0.0007	0.0015	0.0006	0	0.0008	0.0005	0	0.0003	0.0012	0.0006	0.79	0.03201	T	0.697	0.05786	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	4.62	0.01834	T	0.32	0.03955	N	0.057	0.03283	-0.9088	0.47001	T	0.003	0.00929	T	8	0.046648234	0.03881	T	0.00187	0.03272	T	0.056	0.15993	0.169	0.07419	0.115124310173	0.11017	0.04506352068669649	0.04450	0.0722180226617	0.08101	0.261078834534	0.05020	T	0.00192	0.01337	T	-0.782421	0.00011	T	-0.901286	0.00493	T	0.0517716041947937	0.05808	T	0.372463	0.08834	T	0.036840193	0.04610	0.03608086	0.02983	0.036840193	0.04609	0.03608086	0.02983	1.15	0.00114	T	.	.	0.077	0.07224	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.812023	0.01084	0.048	0.46229898147531445	0.03687	0.00082	0.00556	N	AEFBI	0.015759	0.00316	N	-1.71976647479546	0.00774	0.0334342	-1.81650627003924	0.00708	0.03152275	1.60248621860255E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.537	-1.07	0.09459	-2.934000	0.00752	-2.235000	0.04018	-0.545000	0.04923	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.2526:0.2542:0.2353:0.2579	0.106	0.00048	960	0.08626	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	595.04	38	chr4	174977778	.	T	A	595.04	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.89;DP=2599;ExcessHet=0.0000;FS=30.747;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.43;MQRankSum=0.526;QD=1.86;ReadPosRankSum=-2.988e+00;SOR=1.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1248	20	0	1	0
chr4	174977783	174977783	A	G	exonic	ADAM29	.	nonsynonymous SNV	ADAM29:NM_001278127:exon2:c.A2258G:p.Q753R	.	.	431	1068	11	0	12	23	0.00512343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	.	.	1.000	N	0	N	4.58	T	-0.916	T	0.002	T	0.038	-1.384	0.025	-1.07	-2.089	-3.817	3.277	0.000	.	0.0035	0.00499201	0.0001	0	8.684e-05	0	0.0005	0.0002	0	0	0.000925	143	154602	rs111721161	0.0011	0.0020	0.0011	0.0011	0.0011	0.0010	0.0010	0.0010	0.0010	0.0002	0.0009	0.0014	0	0.0038	0.0011	0.0011	0.0015	0.0004	0.0017	0.0026	0.0017	0.0017	0.0027	0.0015	0.0015	0.0020	0.0018	0.0004	0.0398	0.0027	0.0018	0.0002	0.0040	0	0.0017	0.0005	0.0002	1.0	0.00964	T	0.805	0.04005	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	4.58	0.01901	T	-0.51	0.15986	N	0.046	0.01911	-0.9159	0.46103	T	0.002	0.00615	T	8	0.0055652857	0.00123	T	.	.	.	0.000	0.00003	.	.	0.119812018005	0.11559	0.04266793907352832	0.04211	0.0916761220119	0.10349	0.223081022501	0.01495	T	0.002696	0.02085	T	-0.779153	0.00011	T	-0.889364	0.00580	T	0.00680666097123284	0.00077	T	0.19908	0.02235	T	0.020996671	0.00681	0.029644376	0.01326	0.020996671	0.00681	0.029644376	0.01326	-4.268	0.27726	T	.	.	0.077	0.06341	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.389947	0.00367	0.007	0.29665368449142121	0.01584	0.00091	0.00603	N	AEFBI	0.027174	0.02172	N	-2.14064058520922	0.00104	0.004456205	-2.22129631152412	0.00100	0.004402878	5.00070531849664E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.537	-1.07	0.09459	-5.159000	0.00172	-10.974000	0.00647	-3.234000	0.00106	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4854:0.2753:0.2393:0.0	3.277	0.06494	960	0.08626	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	578.04	38	chr4	174977783	.	A	G	578.04	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.030e-01;DP=2617;ExcessHet=0.0000;FS=32.807;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.32;MQRankSum=0.521;QD=1.77;ReadPosRankSum=-2.657e+00;SOR=2.032	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1248	20	0	1	0
chr4	176126922	176126922	C	G	exonic	WDR17	.	stopgain	WDR17:NM_001350727:exon6:c.C807G:p.Y269X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00419329	.	.	.	.	.	.	.	.	0.0015752	41	26028	rs558795637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0042	0.0042	0.0042	0.0042	0.0132	0.0040	0.0038	0.0123	0.0120	0.0132	0	0.0031	0.0006	0	0.0005	0.0170	0.0003	0.0061	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02632	142.79	3	chr4	176126922	.	C	G	142.79	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=79;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0829;MLEAC=1;MLEAF=0.026;MQ=60.00;MQRankSum=0.00;QD=28.56;ReadPosRankSum=-5.240e-01;SOR=0.693	GT:AD:DP:GQ:PL	./.	18	0	1	2
chr4	176160948	176160948	C	T	exonic	WDR17	.	nonsynonymous SNV	WDR17:NM_001378105:exon19:c.C2531T:p.S844F	.	.	442	1077	3	0	0	3	0.00139082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.005	B	0.007	B	0.016	N	0.968	N	1.01	L	0.2	T	-0.959	T	0.103	T	0.366	1.813	12.02	3.88	2.606	3.893	13.792	0.076	0.0151065851596	0.0037	0.000798722	0.0027	0.0008	0.0007	0	0.0045	0.0041	0	0.0004	0.0029236	452	154602	rs147272076	0.0047	0.0047	0.0048	0.0046	0.0056	0.0046	0.0046	0.0055	0.0055	0.0006	0.0010	0.0002	2.527e-05	0.0042	0.0016	0.0056	0.0042	0.0004	0.0033	0.0033	0.0035	0.0032	0.0056	0.0031	0.0030	0.0051	0.0050	0.0010	0.0011	0.0015	0	0	0.0058	0.0034	0.0056	0.0009	0	0.097	0.32141	T	0.171	0.30436	T	0.005	0.12996	B	0.007	0.12992	B	0.016386	0.27990	N	0.373166	0.968317	0.25807	N	1.745	0.45235	L	0.16	0.60854	T	-2.48	0.54059	N	0.271	0.33687	-0.9592	0.39330	T	0.103	0.37994	T	10	0.005960971	0.00134	T	0.015107	0.35650	T	0.076	0.22200	.	.	0.891060594775	0.88998	0.37475044475621455	0.37389	0.114889616539	0.12965	0.376848697662	0.21809	T	0.021153	0.16521	T	-0.379643	0.03132	T	-0.315078	0.43111	T	0.0120658571521454	0.00191	T	0.807619	0.45757	T	0.12978336	0.30302	0.14031762	0.33451	0.12978336	0.30302	0.14031762	0.33450	-7.584	0.59022	D	.	.	0.107	0.20196	B	.;.;.	.;.;.	2.779414	0.36502	20.3	0.89495736102731338	0.18846	0.83866	0.42959	D	AEFI	0.241124	0.36279	N	-0.371410943146938	0.26492	1.446293	-0.312986849446991	0.27679	1.537601	0.992070369991738	0.32709	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	4.73	3.88	0.43959	4.187000	0.58142	3.980000	0.40897	0.599000	0.40250	0.802000	0.29747	0.281000	0.24108	0.228000	0.22680	0.0:0.9213:0.0:0.0787	13.792	0.62637	970	0.06235	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1255.98	33	chr4	176160948	.	C	T	1255.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.673;DP=853;ExcessHet=0.0000;FS=1.403;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=-3.330e-01;SOR=0.775	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr4	176192761	176192761	G	A	exonic	SPATA4	.	nonsynonymous SNV	SPATA4:NM_144644:exon4:c.C554T:p.S185L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.994	D	0.000	D	0.832	D	2.445	M	1.89	T	-0.632	T	0.176	T	0.68	3.441	17.65	5.27	2.622	6.063	16.159	0.274	0.0351034252102	.	.	8.25e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs757850312	1.3e-05	1.3e-05	1.089e-05	1.513e-05	6.708e-05	8.31e-06	6.7e-06	1.779e-05	8.93e-06	0	6.708e-05	0	0	1.872e-05	0	1.259e-05	1.656e-05	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.003	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000071	0.52346	D	0.079784	0.832452	0.34939	D	3.055	0.86842	M	1.89	0.23688	T	-5.27	0.86149	D	0.619	0.73105	-0.6320	0.63485	T	0.176	0.52115	T	10	0.7589535	0.76197	D	0.035103	0.56125	D	0.274	0.59007	0.627	0.76254	0.50466331119	0.50103	0.7873723497403182	0.78689	0.447679925496	0.44623	0.450667560101	0.32036	T	0.194486	0.55027	T	-0.0959267	0.37099	T	-0.178597	0.56653	T	0.976261854171753	0.71301	D	0.849315	0.54589	T	0.71285784	0.78765	0.67117494	0.80705	0.71285784	0.78766	0.67117494	0.80706	-3.59	0.17713	T	.	.	0.454	0.67894	A	.;.	.;.	5.019819	0.83422	28.0	0.99902261830418337	0.97350	0.86265	0.45512	D	AEFBI	0.556432	0.56647	D	0.623561123392	0.74665	6.171817	0.516443356632906	0.69096	5.311816	0.999999996002805	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.635259	0.50027	0	.	.	5.27	5.27	0.73797	6.292000	0.72712	11.676000	0.94162	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.794000	0.37478	0.0:0.0:1.0:0.0	16.159	0.81494	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1176.98	83	chr4	176192761	.	G	A	1176.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.60;DP=1139;ExcessHet=0.0000;FS=2.566;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-3.070e-01;SOR=0.890	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	20	0	1	0
chr4	176687380	176687380	C	T	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon6:c.G952A:p.V318I,	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.76	P	0.386	B	0.000	D	1.000	D	2.05	M	.	.	-0.704	T	0.211	T	0.341	4.474	23.9	5.87	2.778	3.535	11.172	0.204	0.00231278425509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.37872	T	0.76	0.43524	P	0.386	0.44011	B	0.000018	0.62929	D	0.069095	0.999977	0.53665	D	2.315	0.66250	M	.	.	.	.	.	.	0.182	0.19728	-0.7040	0.60246	T	0.211	0.57174	T	9	0.3161506	0.49038	T	0.002313	0.04452	T	.	.	0.148	0.05138	0.355242300401	0.35136	0.18871810480379678	0.18789	.	.	0.43244600296	0.29543	T	0.269827	0.64205	T	-0.0186083	0.49052	T	-0.264506	0.48373	T	0.80973881483078	0.47028	D	0.80342	0.45053	T	0.052827142	0.09910	0.133227	0.31951	0.052827142	0.09909	0.133227	0.31950	-6.108	0.47174	T	.	.	0.075	0.05404	B	.	.	3.126869	0.42236	21.5	0.99827373430134869	0.90939	0.94310	0.60759	D	AEFDBI	0.541709	0.55775	D	0.489497978566348	0.66476	4.954932	0.559728119406497	0.72076	5.753299	0.999999742895371	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	3.592000	0.53740	2.741000	0.34462	0.594000	0.32500	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.8901:0.0:0.1099	11.172	0.47804	915	0.20917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1729.98	34	chr4	176687380	.	C	T	1729.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.074e+00;DP=853;ExcessHet=0.0000;FS=3.771;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=-1.980e+00;SOR=0.994	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1215	20	0	1	0
chr4	176711629	176711629	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C574G:p.L192V,	Lymphedema, hereditary, ID, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.018	B	0.016	B	0.000	D	1.000	D	1.085	L	.	.	-0.916	T	0.201	T	0.066	2.388	13.94	5.98	2.843	4.695	20.437	0.389	0.00457388535514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.36233	T	0.018	0.17786	B	0.016	0.17743	B	0.000002	0.62929	D	0.060984	0.999978	0.53665	D	1.445	0.36358	L	.	.	.	.	.	.	0.211	0.23506	-0.9162	0.46063	T	0.201	0.55723	T	9	0.21782258	0.38406	T	0.004574	0.11283	T	.	.	0.338	0.32816	0.258283824007	0.25425	0.20722753188937795	0.20638	.	.	0.476231843233	0.35538	T	0.511562	0.82742	D	-0.225602	0.17235	T	-0.561838	0.16204	T	0.975354909896851	0.70898	D	0.818018	0.47523	T	0.68111783	0.77030	0.5560567	0.74322	0.68111783	0.77031	0.5560567	0.74323	-3.092	0.11205	T	.	.	0.149	0.32898	B	.	.	2.846774	0.37571	20.5	0.99481528693655874	0.66904	0.93293	0.57830	D	AEFDGBIJ	0.738481	0.68334	D	0.0495151208025927	0.44120	2.691901	0.265583808111138	0.53542	3.522512	0.999999999071338	0.74766	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	4.780000	0.62075	7.388000	0.58495	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1206.97	34	chr4	176711629	.	G	C	1206.97	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-5.125e+00;DP=1382;ExcessHet=4.7172;FS=102.363;InbreedingCoeff=-0.2644;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=1.63;ReadPosRankSum=0.755;SOR=10.330	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:73,11:84:16:0|1:176711629_G_C:0,16,2668:176711629	12	0	9	0
chr4	176711631	176711631	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C572G:p.P191R,	Lymphedema, hereditary, ID, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	1678376	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.988	D	0.000	D	1.000	D	1.52	L	.	.	-0.325	T	0.394	T	0.926	4.430	23.6	5.98	2.843	9.466	20.437	0.573	0.0164080950575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0079	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0004	0.0001	0.0006	0.0005	0.0003	0.0004	0.0007	0.0006	0.0001	0	1.318e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.004	0.74150	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	.	.	.	.	.	.	0.909	0.91047	-0.3248	0.74287	T	0.394	0.74735	T	9	0.8736812	0.86647	D	0.016408	0.37653	T	.	.	0.546	0.66015	0.51627217869	0.51271	0.670927250296511	0.67030	.	.	0.735086381435	0.72250	T	0.838317	0.96206	D	0.453469	0.92634	D	0.414	0.92543	D	0.994541704654694	0.85897	D	0.888611	0.61875	D	0.8869157	0.90244	0.57547873	0.75406	0.8869157	0.90246	0.57547873	0.75407	-14.113	0.93418	D	.	.	0.912	0.83607	P	.	.	5.440469	0.90928	32	0.99696376373392925	0.80316	0.99228	0.93120	D	AEFDGBIJ	0.929678	0.91581	D	0.858986860426177	0.89613	10.04438	0.885812039272356	0.94923	13.15767	1.0	0.98316	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	9.591000	0.97403	11.818000	0.97148	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3235	1555.83	65	chr4	176711631	.	G	C	1555.83	.	AC=11;AF=0.324;AN=34;BaseQRankSum=-1.679e+00;DP=1803;ExcessHet=7.7275;FS=101.631;InbreedingCoeff=-0.4496;MLEAC=12;MLEAF=0.353;MQ=60.00;MQRankSum=0.00;QD=1.71;ReadPosRankSum=0.695;SOR=10.970	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:73,11:84:16:0|1:176711629_G_C:0,16,2668:176711629	6	0	11	4
chr4	176727966	176727966	T	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon3:c.A364G:p.I122V,	Lymphedema, hereditary, ID, Autosomal dominant	.	441	1068	12	1	0	14	0.00651163	.	.	981454	Lymphatic_malformation_4	MONDO:MONDO:0014393,MedGen:C4747769,OMIM:615907,Orphanet:79452	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.09	T	0.001	B	0.002	B	0.000	D	1.000	D	2.365	M	.	.	-0.724	T	0.240	T	0.217	1.818	12.04	4.32	1.033	5.941	11.375	0.131	.	.	0.00559105	0.0048	0.0001	0.0003	0	0	0.0001	0.0080	0.0370	0.0039262	607	154602	rs202135883	0.0020	0.0020	0.0010	0.0030	0.0326	0.0019	0.0019	0.0316	0.0312	0	6.833e-05	0	0	1.877e-05	0.0023	3.257e-05	0.0019	0.0326	0.0011	0.0011	0.0006	0.0016	0.0325	0.0009	0.0009	0.0283	0.0267	7.227e-05	0	6.554e-05	0	0	0	0	1.471e-05	0.0005	0.0325	.	.	.	0.027	0.55341	D	0.001	0.07471	B	0.002	0.06944	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.93	0.51437	L	.	.	.	.	.	.	0.402	0.44283	-0.7244	0.59244	T	0.240	0.60774	T	9	0.0046599507	0.00098	T	.	.	.	.	.	0.604	0.73586	0.262175524916	0.25828	0.5995756648524614	0.59888	.	.	0.455484390259	0.32692	T	0.345083	0.71351	T	-0.42664	0.01553	T	-0.361241	0.37908	T	0.0446057844431485	0.04530	T	0.751525	0.37371	T	0.40105188	0.60805	0.20008624	0.43923	0.40105188	0.60805	0.20008624	0.43922	-6.479	0.50124	T	.	.	0.114	0.22644	B	.	.	2.673226	0.34853	19.74	0.99000334636836484	0.50127	0.90773	0.52233	D	AEFBCI	0.810069	0.73341	D	-0.0402052900268502	0.40041	2.371215	0.0552113342501253	0.42325	2.558021	0.999999966167736	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.5	4.32	0.50899	5.897000	0.69569	6.217000	0.55081	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.789000	0.37270	0.0:0.0709:0.0:0.9291	11.375	0.48960	837	0.37933	PDGF/VEGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	948.98	34	chr4	176727966	.	T	C	948.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.48;DP=766;ExcessHet=0.0000;FS=0.953;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=0.213;SOR=0.907	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1295	20	0	1	0
chr4	176729619	176729619	T	A	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon2:c.A275T:p.H92L,	Lymphedema, hereditary, ID, Autosomal dominant	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.0	B	0.0	B	0.326	N	1.000	N	0.55	N	.	.	-1.032	T	0.058	T	0.163	-1.718	0.011	2.23	0.757	2.008	7.584	0.044	0.00193043535559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.21e-06	8.209e-06	1.089e-05	5.501e-06	0.0002	4.38e-06	3.46e-06	4.55e-06	3.32e-06	0	0	0	0	0	0.0002	8.994e-06	1.656e-05	0	6.57e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.375	0.16231	T	0.0	0.02946	B	0.0	0.01387	B	0.325728	0.14197	N	0.700873	1	0.08975	N	1.32	0.33002	L	.	.	.	.	.	.	0.382	0.42345	-1.0316	0.19937	T	0.058	0.24279	T	9	0.11282721	0.21177	T	0.00193	0.03430	T	.	.	0.442	0.49811	0.535584383668	0.53208	0.5922790684710431	0.59157	.	.	0.273353427649	0.06582	T	0.28374	0.65650	T	-0.150118	0.28294	T	-0.45341	0.27320	T	0.0261473948040094	0.01425	T	0.707329	0.31793	T	0.049458697	0.08786	0.04933003	0.07515	0.049458697	0.08786	0.04933003	0.07514	-3.519	0.16699	T	.	.	0.092	0.13409	B	.	.	0.896856	0.12707	9.227	0.59325546937721907	0.06198	0.41401	0.26649	N	AEFDBIJ	0.146871	0.27042	N	-0.83074745089238	0.12528	0.6112747	-0.786506417302096	0.14826	0.7767097	0.998836107901651	0.37777	0.732398	0.92422	0	0.573888	0.26702	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.69	2.23	0.27189	1.205000	0.31914	0.955000	0.22950	0.609000	0.47794	0.746000	0.29090	0.715000	0.26317	0.090000	0.17789	0.0:0.1728:0.0:0.8272	7.584	0.27150	832	0.38914	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1221.98	37	chr4	176729619	.	T	A	1221.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.91;DP=814;ExcessHet=0.0000;FS=2.360;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.27;ReadPosRankSum=0.249;SOR=0.782	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1051	20	0	1	0
chr4	177335804	177335804	A	T	exonic	NEIL3	.	nonsynonymous SNV	NEIL3:NM_018248:exon3:c.A395T:p.D132V,	.	.	432	1085	5	0	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.996	D	0.935	D	0.000	D	1.000	D	2.125	M	1.69	T	-0.869	T	0.150	T	0.983	3.290	17.05	5.14	2.155	8.191	14.297	0.644	0.037109093594	7.7e-05	.	0.0006	0.0001	0.0007	0	0	0.0008	0.0023	0.0003	0.0005304	82	154602	rs200055050	0.0005	0.0005	0.0005	0.0005	0.0166	0.0004	0.0004	0.0137	0.0127	0.0002	0.0009	0.0028	0	0	0.0166	0.0004	0.0009	0.0003	0.0003	0.0003	0.0005	0.0002	0.0003	0.0003	0.0002	0.0002	0.0002	9.632e-05	0	0.0003	0.0032	0	0	0.0306	0.0003	0.0009	0	0.008	0.58626	D	0.008	0.67890	D	0.996	0.68779	D	0.935	0.67021	D	0.000001	0.62929	D	0.097167	1	0.81001	D	2.745	0.80253	M	1.69	0.27032	T	-3.39	0.66896	D	0.751	0.75009	-0.8685	0.50642	T	0.150	0.47752	T	10	0.16765869	0.31273	T	0.037109	0.57411	D	0.644	0.86485	.	.	0.682620645307	0.67991	0.8046698844800249	0.80420	0.660132741455	0.58851	0.486539304256	0.36960	T	0.20589	0.56508	T	-0.00477988	0.50993	T	0.128808	0.78814	D	0.0891745110324831	0.11118	T	0.868313	0.57032	D	0.48030865	0.65919	0.30659926	0.56684	0.48030865	0.65920	0.30659926	0.56683	-12.045	0.85069	D	.	.	0.500	0.64572	A	.	.	4.718524	0.75881	26.4	0.99165876776245965	0.54241	0.99251	0.93458	D	AEFBI	0.858044	0.77550	D	0.744800952342921	0.82565	7.794299	0.719934546279451	0.83893	8.142577	0.9999999565011	0.74766	0.638212	0.43195	0	0.633656	0.55848	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.14	5.14	0.70008	8.168000	0.89620	7.859000	0.71346	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.297	0.65872	970	0.06235	Formamidopyrimidine-DNA glycosylase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1427.98	38	chr4	177335804	.	A	T	1427.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.300e-01;DP=761;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=24.20;ReadPosRankSum=0.567;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,99,1485	20	0	1	0
chr4	177335805	177335805	C	G	exonic	NEIL3	.	nonsynonymous SNV	NEIL3:NM_018248:exon3:c.C396G:p.D132E,	.	.	432	1084	6	0	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.689	P	0.155	B	0.000	D	0.995	D	1.435	L	1.62	T	-1.083	T	0.045	T	0.838	0.277	5.500	3.33	0.672	0.034	4.353	0.191	0.00505511049699	7.7e-05	.	0.0006	0.0001	0.0007	0	0	0.0008	0.0023	0.0003	0.0005304	82	154602	rs201212443	0.0005	0.0005	0.0005	0.0005	0.0164	0.0004	0.0004	0.0135	0.0125	0.0002	0.0009	0.0028	0	0	0.0164	0.0004	0.0009	0.0003	0.0003	0.0003	0.0005	0.0002	0.0003	0.0003	0.0002	0.0002	0.0002	9.632e-05	0	0.0003	0.0032	0	0	0.0306	0.0003	0.0009	0	0.378	0.11262	T	0.466	0.12386	T	0.689	0.41609	P	0.155	0.34417	B	0.000001	0.62929	D	0.097167	0.995499	0.42717	D	2.05	0.56469	M	1.62	0.28189	T	-0.67	0.19297	N	0.147	0.14905	-1.0831	0.06758	T	0.045	0.19275	T	10	0.012093812	0.00261	T	0.005055	0.12784	T	0.191	0.46948	0.475	0.55182	0.405560941015	0.40167	0.6035131891944862	0.60282	0.143388446236	0.16189	0.515238523483	0.40957	T	0.098497	0.40237	T	-0.19237	0.21912	T	-0.140652	0.60062	T	0.0232583975305247	0.01055	T	0.59684	0.22194	T	0.099990234	0.23604	0.06502534	0.13119	0.099990234	0.23604	0.06502534	0.13119	-5.844	0.44956	T	.	.	0.286	0.51874	B	.	.	1.831043	0.23262	15.95	0.92639290159364795	0.22113	0.81945	0.41252	D	AEFBI	0.156562	0.28194	N	-0.123365963126992	0.36375	2.101837	-0.0578855628404897	0.37151	2.171	0.90159403409518	0.26105	0.638212	0.43195	0	0.633656	0.55848	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.14	3.33	0.37245	0.047000	0.13941	1.015000	0.23361	0.599000	0.40250	0.952000	0.33172	1.000000	0.68203	0.988000	0.63387	0.0:0.42:0.2896:0.2904	4.353	0.10598	970	0.06235	Formamidopyrimidine-DNA glycosylase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1427.98	38	chr4	177335805	.	C	G	1427.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.344e+00;DP=761;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=24.20;ReadPosRankSum=0.297;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,99,1485	20	0	1	0
chr4	177438816	177438816	A	C	exonic	AGA	.	nonsynonymous SNV	AGA:NM_000027:exon4:c.T436G:p.L146V	Aspartylglucosaminuria, Autosomal recessive	.	1	1511	9	1	0	11	0.00362677	.	.	414968	Intellectual_disability|Aspartylglucosaminuria|not_provided	Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|Human_Phenotype_Ontology:HP:0012068,MONDO:MONDO:0008830,MedGen:C0268225,OMIM:208400,Orphanet:93|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.998	D	0.996	D	0.000	D	1.000	D	3.27	M	-2.27	D	0.797	D	0.815	D	0.649	3.027	16.10	5.65	2.146	4.595	15.552	0.738	0.274625033147	0.0028	0.00139776	0.0009	0.0039	0.0010	0	0	0.0008	0.0022	0.0006	0.0008667	134	154602	rs146381591	0.0007	0.0008	0.0007	0.0007	0.0047	0.0007	0.0007	0.0037	0.0034	0.0042	0.0016	0.0010	2.52e-05	7.489e-05	0.0047	0.0006	0.0014	0.0011	0.0018	0.0018	0.0018	0.0017	0.0037	0.0016	0.0015	0.0032	0.0030	0.0037	0	0.0023	0.0012	0	0	0.0034	0.0009	0.0038	0.0019	0.002	0.72154	D	0.003	0.76473	D	0.998	0.73220	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.33	0.90841	M	-2.44	0.88767	D	-2.74	0.60827	D	0.512	0.54322	0.797	0.94369	D	0.815	0.93776	D	10	0.020604104	0.00478	T	0.274625	0.90008	D	0.738	0.90895	.	.	0.964155382141	0.96377	0.6346534917160205	0.63399	0.459209030653	0.45513	0.450321495533	0.31987	T	0.926547	0.98725	D	-0.0892466	0.38200	T	0.0985068	0.76810	D	0.79264372587204	0.45863	D	0.867613	0.56877	D	0.908475	0.92153	0.79925746	0.88223	0.9338456	0.94624	0.80734366	0.88732	-9.687	0.72017	D	0.7223833655274617	0.80355	0.323	0.61254	B	.;.	.;.	3.347657	0.46161	22.3	0.9982557451165236	0.90764	0.95774	0.66097	D	AEFBI	0.588661	0.58584	D	0.738165755648275	0.82133	7.687813	0.643458948439878	0.78123	6.813661	0.99046434075123	0.32162	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.65	5.65	0.86881	4.054000	0.57146	5.424000	0.48574	0.728000	0.85494	1.000000	0.71638	1.000000	0.68203	0.893000	0.43066	1.0:0.0:0.0:0.0	15.552	0.75902	960	0.08626	.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2293.98	40	chr4	177438816	.	A	C	2293.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.120e-01;DP=1024;ExcessHet=0.0000;FS=2.192;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.68;ReadPosRankSum=0.870;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,107:237:99:0|1:177438806_G_C:2308,0,3043:177438806	20	0	1	0
chr4	182773536	182773536	G	A	exonic	TENM3	.	nonsynonymous SNV	TENM3:NM_001080477:exon23:c.G4957A:p.G1653R,	Microphthalmia, isolated, with coloboma 9, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.917	P	0.421	B	.	.	1.000	D	-0.74	N	-2.0	D	-0.449	T	0.306	T	0.692	2.822	15.40	5.26	2.733	3.462	19.075	0.476	0.0274089538049	.	.	8.282e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs762748213	1.368e-06	1.368e-06	0	2.751e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303	0.14352	T	0.319	0.19188	T	0.917	0.50750	P	0.421	0.45113	B	.	.	.	.	0.999707	0.48408	D	0	0.06538	N	-2.0	0.85393	D	-0.63	0.18459	N	0.453	0.49055	-0.4494	0.70420	T	0.306	0.67694	T	9	0.22815627	0.39713	T	0.027409	0.50222	D	0.476	0.76816	0.447	0.50629	0.260580752073	0.25663	0.6704695424240541	0.66984	0.367028223889	0.38272	0.690092921257	0.65719	T	0.045427	0.27120	T	0.253115	0.78892	D	0.125806	0.78618	D	0.413473364928087	0.29447	T	0.873813	0.58316	D	0.1366303	0.31667	0.22479966	0.47403	0.1366303	0.31666	0.22479966	0.47402	-3.547	0.17096	T	0.18616930833788087	0.24219	0.391	0.59045	A	.	.	4.750526	0.76703	26.6	0.96291833613261257	0.29318	0.92252	0.55286	D	AEFGBI	0.362128	0.45149	N	0.0829722116189971	0.45670	2.819617	0.244559422937701	0.52340	3.409538	0.999992709067219	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.26	5.26	0.73479	2.380000	0.43982	8.646000	0.77914	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.075	0.93139	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1246.98	41	chr4	182773536	.	G	A	1246.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=819;ExcessHet=0.0000;FS=1.495;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=1.09;SOR=0.555	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1318	20	0	1	0
chr4	183284277	183284277	C	T	exonic	WWC2	.	nonsynonymous SNV	WWC2:NM_024949:exon19:c.C2935T:p.R979C,	.	.	433	1082	7	0	0	7	0.00322432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.81	M	0.16	T	-0.068	T	0.374	T	0.921	3.630	18.46	5.02	2.607	2.615	18.537	0.370	.	0.0056	0.00299521	0.0038	0.0019	0.0050	0.0001	0.0015	0.0050	0.0055	0.0016	0.0041397	640	154602	rs45470696	0.0059	0.0059	0.0061	0.0058	0.0071	0.0058	0.0058	0.0069	0.0069	0.0007	0.0037	0.0013	2.519e-05	0.0018	0.0010	0.0071	0.0053	0.0019	0.0039	0.0039	0.0042	0.0035	0.0069	0.0036	0.0035	0.0064	0.0062	0.0014	0.0011	0.0018	0.0009	0	0.0012	0	0.0069	0.0043	0.0019	0.02	0.49613	D	0.015	0.70582	D	0.036	0.90584	B	0.009	0.97372	B	0.000003	0.62929	D	0.000000	1	0.81001	D	2.28	0.64929	M	0.16	0.60610	T	-3.94	0.79743	D	0.711	0.71765	-0.0676	0.80832	T	0.374	0.73242	T	10	0.010034293	0.00225	T	.	.	.	0.370	0.68930	.	.	0.646674526982	0.64375	0.473353654239015	0.47254	0.0374402184528	0.03967	0.527586698532	0.42694	T	0.191139	0.54588	T	-0.0451608	0.45178	T	0.169318	0.81369	D	0.041765206130299	0.04011	T	0.846715	0.55187	T	0.29202786	0.52181	0.20193098	0.44197	0.29202786	0.52180	0.20193098	0.44196	-7.445	0.57933	T	.	.	0.168	0.36947	B	.;.;.;.;.	.;.;.;.;.	4.131474	0.61826	24.4	0.99830634558388909	0.91198	0.96740	0.70685	D	AEFGBI	0.738303	0.68322	D	0.463519525745586	0.64974	4.764554	0.477470166128155	0.66499	4.960144	0.999999999996464	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	2.799000	0.47586	4.584000	0.43931	0.596000	0.33519	0.988000	0.36536	1.000000	0.68203	0.926000	0.46234	0.0:1.0:0.0:0.0	18.537	0.90966	968	0.07033	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2800.11	41	chr4	183284277	.	C	T	2800.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.60;DP=887;ExcessHet=0.1072;FS=3.018;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.73;ReadPosRankSum=0.170;SOR=0.926	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	19	0	2	0
chr4	183666271	183666271	G	C	exonic	TRAPPC11	.	nonsynonymous SNV	TRAPPC11:NM_021942:exon3:c.G219C:p.E73D	Muscular dystrophy, limb-girdle, type 2S, Autosomal recessive	.	429	1073	20	0	0	20	0.00923361	.	.	251413	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_R18|not_specified|not_provided	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356,Orphanet:369840|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.36	T	0.884	P	0.361	B	0.000	D	1.000	D	0.785	N	.	.	-0.880	T	0.093	T	0.733	2.957	15.86	-8.23	-1.570	-0.198	20.646	0.438	.	0.0006	0.00519169	0.0043	0.0004	0.0004	0	0	0.0011	0.0078	0.0268	0.0037192	575	154602	rs138760818	0.0021	0.0021	0.0014	0.0028	0.0237	0.0020	0.0020	0.0228	0.0225	0.0002	0.0004	0.0094	7.562e-05	0	0.0059	0.0005	0.0027	0.0237	0.0012	0.0012	0.0009	0.0016	0.0213	0.0011	0.0010	0.0180	0.0167	9.623e-05	0	0.0005	0.0084	0.0002	0	0.0034	0.0006	0.0009	0.0213	0.332	0.13045	T	0.313	0.19782	T	0.816	0.48618	P	0.268	0.43233	B	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	0.72	0.18721	N	.	.	.	-1.65	0.39503	N	0.83	0.82559	-0.8796	0.49793	T	0.093	0.35309	T	9	0.008832902	0.00200	T	.	.	.	0.438	0.74235	0.507	0.60232	0.297718772494	0.29385	0.6762822272158442	0.67567	0.242449313092	0.26752	0.895344734192	0.95908	D	0.056148	0.30204	T	-0.266217	0.12181	T	-0.136255	0.60441	T	0.0358278396197127	0.02951	T	0.936706	0.76258	D	0.13100906	0.30552	0.16336662	0.37900	0.15270379	0.34650	0.21760593	0.46431	-4.695	0.33367	T	0.271994395201674	0.36576	0.534	0.66116	A	.;.	.;.	0.259165	0.06380	2.843	0.97681234374604287	0.35317	0.66952	0.33258	D	AEFBI	0.191362	0.31856	N	-0.860169371462993	0.11800	0.5714975	-0.946028042817449	0.11016	0.5585789	0.999723583915953	0.42220	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.61	-8.23	0.00907	-0.179000	0.09761	-1.286000	0.05813	-0.281000	0.06419	0.457000	0.26620	0.000000	0.08366	0.992000	0.67800	0.2921:0.0:0.7079:0.0	20.646	0.99595	798	0.45050	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.04762	1660.11	39	chr4	183666271	.	G	C	1660.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.959;DP=798;ExcessHet=0.1072;FS=2.039;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=1.26;SOR=0.545	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1294	19	0	2	0
chr4	183674771	183674771	G	A	exonic	TRAPPC11	.	nonsynonymous SNV	TRAPPC11:NM_021942:exon6:c.G619A:p.V207M	Muscular dystrophy, limb-girdle, type 2S, Autosomal recessive	.	449	1071	2	0	0	2	0.000932836	.	.	563623	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_R18	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356,Orphanet:369840	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.999	D	0.958	D	0.000	D	1.000	D	2.485	M	.	.	-0.104	T	0.515	D	0.86	5.449	35	5.94	2.807	7.846	20.359	0.642	0.0085678916885	.	0.000199681	8.285e-06	0	0	0	0	0	0	6.058e-05	1.29e-05	2	154602	rs201181808	1.456e-05	1.573e-05	1.793e-05	1.115e-05	1.809e-05	9.36e-06	7.94e-06	1.182e-05	9.6e-06	0	0	0	0	0	0	1.809e-05	0	1.217e-05	6.567e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.002	0.72154	D	0.006	0.70582	D	0.998	0.77913	D	0.858	0.70027	P	0.000010	0.62929	D	0.109669	1	0.81001	D	2.215	0.62545	M	.	.	.	-2.42	0.53096	N	0.81	0.81162	-0.1042	0.80002	T	0.515	0.81835	D	9	0.7756665	0.77438	D	0.008568	0.22655	T	0.642	0.86384	.	.	0.565975473979	0.56261	0.6224218247981242	0.62175	0.458982957277	0.45497	0.868730247021	0.92386	D	0.244772	0.61396	T	0.314946	0.84109	D	0.32468	0.89288	D	0.869926571846008	0.51985	D	0.968003	0.88371	D	0.32241523	0.54843	0.4253463	0.66346	0.32241523	0.54843	0.4253463	0.66346	-10.134	0.74710	D	0.8403159146604614	0.90899	0.823	0.78398	P	.;.	.;.	4.803346	0.78067	26.8	0.99893749757741279	0.96742	0.97910	0.78054	D	AEFGBI	0.869602	0.79021	D	0.856438079296105	0.89471	9.985738	0.853800972483739	0.93237	11.91123	0.99999999999831	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.94	5.94	0.96165	7.972000	0.87634	11.687000	0.94301	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.359	0.98850	793	0.45818	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	809.98	33	chr4	183674771	.	G	A	809.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=788;ExcessHet=0.0000;FS=2.805;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.00;ReadPosRankSum=-6.420e-01;SOR=0.439	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1344	20	0	1	0
chr4	184010627	184010627	A	G	exonic	STOX2	.	nonsynonymous SNV	STOX2:NM_020225:exon3:c.A1789G:p.T597A,	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.0	B	0.0	B	0.910	N	1.000	N	-0.55	N	0.04	T	-1.012	T	0.142	T	0.046	-2.275	0.004	-1.24	-0.335	-0.044	11.355	0.083	0.0178164260612	.	.	8.304e-05	0	0	0	0	0	0	0.0006	6.47e-05	10	154602	rs762394859	3.284e-05	3.283e-05	1.225e-05	5.364e-05	0.0005	2.543e-05	2.249e-05	0.0004	0.0004	0	0	0	0	0	0	0	1.656e-05	0.0005	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0004	2.18e-06	8.2e-07	7.29e-05	3.029e-05	0	0	0	0	0	0	0	0	0	0.0004	0.508	0.07545	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.910412	0.07411	N	1.037240	1	0.08975	N	-1.355	0.00654	N	0.04	0.62051	T	-0.34	0.12661	N	0.028	0.00618	-1.0117	0.26385	T	0.142	0.46294	T	10	0.0148284435	0.00311	T	0.017816	0.39666	T	0.083	0.24192	0.118	0.02577	0.0675242888579	0.06100	0.08876920360427633	0.08809	0.247938390981	0.27351	0.286605864763	0.08430	T	0.004815	0.04227	T	-0.542882	0.00322	T	-0.668158	0.07726	T	0.0246302078723163	0.01225	T	0.70113	0.31087	T	0.031189656	0.02914	0.035123624	0.02704	0.031189656	0.02914	0.035123624	0.02704	-3.354	0.14444	T	.	.	0.056	0.00505	B	.	.	-0.617028	0.01526	0.098	0.29728766208075702	0.01591	0.02591	0.07151	N	AEFBI	0.053538	0.09655	N	-1.42375357375538	0.02431	0.1073495	-1.3820650720746	0.03443	0.1606097	0.00540280402795225	0.10928	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.45	-1.24	0.08948	-0.041000	0.12036	-0.395000	0.09449	-0.065000	0.16512	0.000000	0.06391	0.000000	0.08366	0.118000	0.19084	0.4779:0.0:0.5221:0.0	11.355	0.48852	859	0.33891	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1153.98	90	chr4	184010627	.	A	G	1153.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.000e-01;DP=1859;ExcessHet=0.0000;FS=3.435;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.21;ReadPosRankSum=-8.440e-01;SOR=0.596	GT:AD:DP:GQ:PL	0/0:70,0:70:99:0,120,1800	20	0	1	0
chr4	184678353	184678353	C	A	exonic	PRIMPOL	.	nonsynonymous SNV	PRIMPOL:NM_001345900:exon6:c.C441A:p.D147E	Myopia 22, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.292	N	0.983	N	-2.015	N	1.67	T	-0.985	T	0.013	T	0.029	1.546	11.12	2.11	0.135	0.080	2.311	0.023	0.00210208368243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.291985	0.14751	N	0.691663	0.983459	0.24883	N	-1.97	0.00207	N	1.67	0.27486	T	1.67	0.00794	N	0.098	0.12770	-0.9848	0.33879	T	0.013	0.04938	T	10	0.028689742	0.00999	T	0.002102	0.03882	T	0.026	0.05648	0.191	0.10171	0.139678290688	0.13603	0.10890438393445781	0.10819	0.0286086447257	0.02943	0.244153410196	0.03177	T	1.84E-4	0.00031	T	-0.385533	0.02874	T	-0.791568	0.02122	T	0.0467233450015724	0.04915	T	0.158484	0.01410	T	0.1488832	0.33968	0.07322685	0.15888	0.1488832	0.33968	0.07322685	0.15888	-1.855	0.03099	T	0.030985694838268095	0.00096	0.065	0.02200	B	.;.;.;.	.;.;.;.	-0.661037	0.01414	0.083	0.87702225452178462	0.17419	0.28979	0.23700	N	AEFI	0.048124	0.08179	N	-0.715003863197069	0.15600	0.7875869	-0.568580952848274	0.20315	1.093935	0.674552636988709	0.22411	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.95	2.11	0.26299	0.094000	0.14946	1.125000	0.24277	-0.644000	0.04415	0.849000	0.30428	0.994000	0.32194	0.183000	0.21389	0.5939:0.1328:0.1496:0.1237	2.311	0.03931	909	0.22467	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	509.98	39	chr4	184678353	.	C	A	509.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.400e+00;DP=798;ExcessHet=0.0000;FS=2.273;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.64;ReadPosRankSum=0.315;SOR=0.405	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1046	20	0	1	0
chr4	185210142	185210142	C	A	exonic	SNX25	.	nonsynonymous SNV	SNX25:NM_001378032:exon1:c.C316A:p.L106M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	35.55	2	chr4	185210142	.	C	A	35.55	.	AC=2;AF=0.071;AN=28;DP=62;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2375;MLEAC=2;MLEAF=0.071;MQ=60.00;QD=17.77;SOR=0.693	GT:AD:DP:GQ:PL	./.	13	1	0	7
chr4	185312576	185312576	G	T	exonic	SNX25	.	nonsynonymous SNV	SNX25:NM_001378038:exon8:c.G1377T:p.M459I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	79.6	19	chr4	185312576	.	G	T	79.6	.	AC=2;AF=0.083;AN=24;DP=19;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.1879;MLEAC=2;MLEAF=0.083;MQ=60.00;QD=28.28;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:3,0:3:9:.:.:0,9,73	11	1	0	9
chr4	185346597	185346597	A	G	exonic	SNX25	.	nonsynonymous SNV	SNX25:NM_001317781:exon13:c.A1756G:p.I586V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.002	B	0.014	B	0.021	N	0.937	N	0.665	N	1.11	T	-1.046	T	0.042	T	0.039	-0.167	3.187	-5.36	-0.806	-0.239	16.115	0.063	.	.	0.00119808	0.0010	0	0	0.0127	0	1.501e-05	0	0.0004	0.0008021	124	154602	rs3756275	0.0003	0.0003	0.0003	0.0003	0.0101	0.0003	0.0003	0.0093	0.0090	0	0	0	0.0101	1.876e-05	0	1.175e-05	0.0002	0.0004	0.0004	0.0004	0.0004	0.0004	0.0100	0.0003	0.0003	0.0079	0.0071	0	0	6.537e-05	0	0.0100	9.418e-05	0	1.47e-05	0	0.0004	0.702	0.04148	T	0.42	0.19908	T	0.001	0.07471	B	0.014	0.16862	B	0.020551	0.27016	N	0.429763	0.937129	0.26899	N	0.77	0.19370	N	1.11	0.38883	T	-0.11	0.08653	N	0.09	0.06854	-1.0457	0.15621	T	0.042	0.17952	T	10	0.006334424	0.00143	T	.	.	.	0.063	0.18251	.	.	0.17258766438	0.16869	0.13737349135907523	0.13661	0.14544047076	0.16437	0.344366461039	0.17088	T	0.005339	0.04790	T	-0.649457	0.00073	T	-0.695288	0.06087	T	0.00391087823129396	0.00041	T	0.829517	0.49484	T	0.0316539	0.03045	0.042542018	0.05090	0.0316539	0.03045	0.042542018	0.05089	-3.982	0.24654	T	.	.	0.055	0.00361	B	.;.;.	.;.;.	0.001921	0.04295	1.079	0.48618540235496155	0.04072	0.12014	0.17006	N	AEFBI	0.068552	0.13528	N	-1.12345285230424	0.06228	0.2861271	-1.07918459535527	0.08111	0.3973716	0.999983264029797	0.51787	0.732398	0.92422	0	0.698795	0.70079	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.28	-5.36	0.02480	-0.241000	0.08958	-0.374000	0.09587	-0.065000	0.16512	0.007000	0.17678	0.000000	0.08366	0.994000	0.71098	0.3932:0.0:0.6068:0.0	16.115	0.81112	940	0.13648	.;Phox homologous domain|Phox homologous domain|Phox homologous domain|SNX25, PX domain;Phox homologous domain|Phox homologous domain|Phox homologous domain|SNX25, PX domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	562.98	38	chr4	185346597	.	A	G	562.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.81;DP=739;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=0.868;SOR=0.580	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr4	185399736	185399736	G	A	exonic	ANKRD37	.	nonsynonymous SNV	ANKRD37:NM_181726:exon4:c.G439A:p.G147R,	.	.	433	1049	40	0	0	40	0.0187091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.301	B	0.03	B	0.048	N	0.999	N	0.255	N	-0.83	T	-0.993	T	0.160	T	0.219	0.011	4.073	3.71	1.435	0.637	10.193	0.113	.	0.0005	0.00459265	0.0027	0.0004	0.0009	0.0002	0	0.0009	0.0067	0.0150	0.0023738	367	154602	rs144479244	0.0016	0.0016	0.0011	0.0021	0.0163	0.0016	0.0015	0.0156	0.0153	0.0003	0.0011	0.0024	5.039e-05	1.873e-05	0.0057	0.0006	0.0019	0.0163	0.0013	0.0013	0.0010	0.0015	0.0232	0.0011	0.0011	0.0197	0.0184	9.627e-05	0	0.0005	0.0035	0.0004	0	0.0034	0.0007	0.0019	0.0232	0.881	0.02538	T	0.754	0.04737	T	0.301	0.32572	B	0.03	0.21741	B	0.047665	0.23323	N	0.434279	.	.	.	1.75	0.45442	L	-0.83	0.74159	T	0.17	0.05125	N	0.187	0.20395	-0.9931	0.31801	T	0.160	0.49380	T	10	0.0044575334	0.00091	T	.	.	.	0.113	0.31778	0.484	0.56621	0.760790476081	0.75861	0.592442007350813	0.59174	0.151662793544	0.17117	0.287187337875	0.08514	T	0.002771	0.02166	T	-0.446435	0.01185	T	-0.401075	0.33258	T	0.00725189279590941	0.00083	T	0.664234	0.27311	T	0.024822954	0.01353	0.0420305	0.04911	0.024822954	0.01353	0.0420305	0.04911	-4.343	0.28775	T	.	.	0.079	0.07507	B	.	.	0.633257	0.10018	6.769	0.75396565598438292	0.11059	0.12125	0.17075	N	AEFDGBCI	0.077032	0.15511	N	-0.598303254044455	0.18997	0.9907638	-0.496319994490441	0.22255	1.207891	0.999997905329658	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.273489	0.05413	2	.	.	5.78	3.71	0.41733	0.788000	0.26533	1.398000	0.26172	0.596000	0.33519	0.002000	0.15269	0.005000	0.19230	0.100000	0.18284	0.1907:0.0:0.8093:0.0	10.193	0.42213	937	0.14592	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1338.98	36	chr4	185399736	.	G	A	1338.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=1055;ExcessHet=0.0000;FS=1.554;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=-3.860e-01;SOR=0.883	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr4	185415786	185415786	C	T	exonic	UFSP2	.	nonsynonymous SNV	UFSP2:NM_018359:exon5:c.G415A:p.G139R,	.	.	.	.	.	.	.	.	.	.	.	3491276	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.52	T	0.003	B	0.001	B	0.121	N	1.000	N	1.355	L	1.6	T	-1.016	T	0.103	T	0.325	0.835	8.370	4.38	1.315	2.009	6.951	0.035	0.0112985912673	7.7e-05	.	1.649e-05	9.63e-05	8.652e-05	0	0	0	0	0	1.94e-05	3	154602	rs368418190	1.026e-05	1.026e-05	1.362e-05	6.877e-06	4.473e-05	6.16e-06	4.89e-06	7.41e-06	5.03e-06	0	4.473e-05	0	0	0	0	1.169e-05	0	0	1.972e-05	1.97e-05	2.57e-05	1.345e-05	2.941e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.941e-05	0	0	0.528	0.07071	T	0.534	0.09965	T	0.003	0.11197	B	0.001	0.04355	B	0.120840	0.19019	N	0.564644	1	0.08975	N	0.69	0.16971	N	1.6	0.28604	T	1.05	0.01314	N	0.252	0.28498	-1.0160	0.25013	T	0.103	0.37869	T	10	0.042892963	0.03083	T	0.011299	0.28784	T	0.065	0.18881	0.32	0.29902	0.251639045875	0.24756	0.2662064763357304	0.26533	0.0856962128083	0.09686	0.338303357363	0.16183	T	0.003426	0.02829	T	-0.317353	0.07117	T	-0.512104	0.21099	T	0.0650418102741241	0.07937	T	0.782522	0.41827	T	0.022897625	0.00986	0.03717971	0.03315	0.022897625	0.00986	0.03717971	0.03315	-3.739	0.19895	T	.	.	0.097	0.15743	B	.	.	2.123456	0.27030	17.32	0.82843262029878006	0.14404	0.05337	0.11192	N	AEFBI	0.055984	0.10313	N	-0.0756945678816477	0.38461	2.252959	-0.0780193410086855	0.36301	2.110804	0.989599887989064	0.31876	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.22	4.38	0.52019	2.016000	0.40591	2.720000	0.34304	0.599000	0.40250	0.029000	0.20367	0.903000	0.28003	0.806000	0.37994	0.0:0.6983:0.0:0.3017	6.951	0.23726	945	0.12563	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1271.98	33	chr4	185415786	.	C	T	1271.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=807;ExcessHet=0.0000;FS=0.743;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=-2.000e-01;SOR=0.803	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1246	20	0	1	0
chr4	185508522	185508522	G	A	exonic	PDLIM3	.	nonsynonymous SNV	PDLIM3:NM_014476:exon5:c.C439T:p.R147C,	.	.	.	.	.	.	.	.	.	.	.	632122	not_specified|Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy	MedGen:CN169374|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	1.0	D	0.993	D	0.000	D	1.000	D	0.69	N	1.28	T	-0.964	T	0.154	T	0.775	4.585	24.9	5.97	2.833	7.573	20.432	0.331	0.0166630286097	.	.	2.483e-05	0	0	0	0	4.507e-05	0	0	1.94e-05	3	154602	rs769851440	9.577e-06	9.577e-06	9.529e-06	9.626e-06	2.987e-05	5.56e-06	4.35e-06	5.31e-06	3.88e-06	2.987e-05	2.236e-05	0	0	0	0	9.893e-06	0	1.159e-05	2.629e-05	2.627e-05	3.855e-05	1.345e-05	6.55e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.55e-05	0	0	0	0	4.411e-05	0	0	.	.	.	.	.	.	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.905	0.50856	L	.	.	.	.	.	.	.	.	-0.9639	0.38428	T	0.154	0.48395	T	10	0.57157737	0.65349	D	0.016663	0.38021	T	.	.	0.29	0.25081	.	.	0.5668708901896886	0.56615	.	.	0.582495212555	0.50436	T	0.078622	0.35935	T	0.022222	0.54682	T	-0.109002	0.62691	T	0.853280067443848	0.50451	D	0.918608	0.70760	D	0.23833428	0.46710	0.20783187	0.45059	0.23833428	0.46710	0.20783187	0.45058	-6.33	0.48959	T	0.3078358442861302	0.40559	0.145	0.32030	B	.	.	5.150502	0.86261	28.9	0.99925071405511312	0.99042	0.97725	0.76683	D	AEFDGBI	0.947496	0.95810	D	0.683916971154635	0.78577	6.900051	0.744828437971687	0.85772	8.68084	0.999999999999823	0.74766	0.581397	0.33459	0	0.573888	0.26702	0	0.573888	0.23631	0	0.622129	0.49086	0	.	.	5.97	5.97	0.96935	7.694000	0.83480	11.863000	0.98373	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.432	0.99087	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1152.98	33	chr4	185508522	.	G	A	1152.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.000e-03;DP=765;ExcessHet=0.0000;FS=0.997;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.78;ReadPosRankSum=-1.650e-01;SOR=0.566	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1353	20	0	1	0
chr4	186083613	186083613	C	A	exonic	TLR3	.	nonsynonymous SNV	TLR3:NM_003265:exon4:c.C1927A:p.R643S,	.	.	0	1515	6	1	0	8	0.00263331	.	.	453492	Herpes_simplex_encephalitis,_susceptibility_to,_1	MONDO:MONDO:0024563,MedGen:C2750180,OMIM:610551,Orphanet:1930	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.68	T	0.011	B	0.015	B	0.095	N	0.998	N	-1.185	N	2.06	T	-0.939	T	0.002	T	0.041	-0.134	3.345	-12.1	-2.494	0.034	24.883	0.089	.	0.0095	0.0117812	0.0030	0.0333	0.0009	0	0	0.0002	0.0011	0.0001	0.0028848	446	154602	rs73025939	0.0010	0.0010	0.0011	0.0009	0.0336	0.0010	0.0009	0.0320	0.0313	0.0336	0.0018	0.0015	2.524e-05	0	0.0023	4.059e-05	0.0029	9.476e-05	0.0096	0.0096	0.0100	0.0091	0.0335	0.0092	0.0090	0.0321	0.0315	0.0335	0	0.0027	0.0017	0	0	0	0.0001	0.0028	0.0004	0.489	0.09209	T	0.545	0.09588	T	0.011	0.15914	B	0.015	0.17295	B	0.095024	0.20143	N	0.604731	0.998752	0.22230	N	-0.775	0.01662	N	2.06	0.20523	T	0.31	0.04022	N	0.072	0.04547	-0.9388	0.42806	T	0.002	0.00615	T	10	0.00221923	0.00032	T	.	.	.	0.089	0.25827	.	.	0.258779203287	0.25495	0.44212070019761157	0.44129	0.152145718627	0.17166	0.285702139139	0.08299	T	0.039018	0.25043	T	-0.717872	0.00028	T	-0.778882	0.02487	T	0.00361463509861913	0.00038	T	0.877212	0.59013	D	0.2215778	0.44738	0.17228302	0.39472	0.28676358	0.51690	0.11280833	0.27221	-2.928	0.09426	T	.	.	0.141	0.30817	B	.;.	.;.	-1.328160	0.00415	0.008	0.4835942687860289	0.04029	0.31804	0.24429	N	AEFDBI	.	.	.	-1.707113192441	0.00817	0.03531506	-1.69041041148899	0.01180	0.05311539	0.999897812532885	0.45129	0.615465	0.37627	0	0.59043	0.45803	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	6.03	-12.1	0.00008	0.050000	0.14004	-3.496000	0.02742	-0.233000	0.07663	0.771000	0.29368	0.000000	0.08366	0.205000	0.22041	0.0871:0.8404:0.0725:0.0	24.883	0.99992	648	0.63242	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3425.98	77	chr4	186083613	.	C	A	3425.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.86;DP=1680;ExcessHet=0.0000;FS=4.715;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=-5.980e-01;SOR=0.629	GT:AD:DP:GQ:PL	0/0:79,0:79:99:0,120,1800	20	0	1	0
chr4	186149654	186149654	A	G	exonic	FAM149A	.	nonsynonymous SNV	FAM149A:NM_001367768:exon3:c.A739G:p.T247A,	.	.	435	1062	24	1	0	26	0.012093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	.	.	.	.	0.000	N	1.000	D	.	.	2.6	T	-1.044	T	0.029	T	0.138	0.773	8.085	3.0	0.462	2.391	9.377	0.039	0.00990703676183	.	0.000399361	0.0031	0	0	0	0	0.0096	0	0.0007	0.0004916	76	154602	rs201889401	0.0013	0.0010	0.0013	0.0013	0.0243	0.0012	0.0012	0.0206	0.0192	0.0009	0.0007	0.0181	0	0.0002	0.0243	0.0009	0.0033	0.0007	0.0011	0.0011	0.0011	0.0012	0.0009	0.0010	0.0009	0.0007	0.0007	0.0003	0	0.0008	0.0190	0	9.418e-05	0.0408	0.0009	0.0028	0.0002	0.204	0.20078	T	0.115	0.36630	T	.	.	.	.	.	.	0.000294	0.46274	N	0.090016	0.546147	0.81001	D	1.525	0.38595	L	2.6	0.13204	T	-1.56	0.37759	N	0.179	0.19325	-1.0438	0.16177	T	0.029	0.12541	T	7	0.0049763024	0.00107	T	0.009907	0.25811	T	0.039	0.10176	.	.	0.297718772494	0.29385	.	.	.	.	.	.	.	0.011487	0.10242	T	-0.581265	0.00189	T	-0.648256	0.09077	T	0.0354920643922334	0.02892	T	0.537046	0.18049	T	0.09970784	0.23535	0.10389788	0.24941	0.09970784	0.23535	0.10389788	0.24940	-3.579	0.17553	T	.	.	0.067	0.02548	B	.	.	0.988500	0.13663	10.20	0.83580940745577437	0.14805	0.72601	0.35530	D	AEFDBCI	0.285858	0.39839	N	-0.202842861560968	0.33017	1.868527	-0.218034726811474	0.30889	1.743183	0.995565874947447	0.34196	0.533608	0.22052	0	0.61073	0.52368	0	0.26897	0.05253	2	0.584449	0.35598	0	.	.	5.41	3.0	0.33773	2.482000	0.44883	1.511000	0.27024	0.751000	0.87719	0.988000	0.36536	0.377000	0.24597	0.007000	0.07825	0.8536:0.0:0.1464:0.0	9.377	0.37448	689	0.59000	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1252.98	34	chr4	186149654	.	A	G	1252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.700e-01;DP=810;ExcessHet=0.0000;FS=1.431;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.19;ReadPosRankSum=-1.387e+00;SOR=0.804	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1167	20	0	1	0
chr4	186165466	186165466	T	C	splicing	FAM149A	NM_001367768:exon11:c.2010+2T>C;NM_001006655:exon11:c.1164+2T>C;NM_001350179:exon11:c.1164+2T>C;NM_001350178:exon11:c.1164+2T>C;NM_015398:exon11:c.1164+2T>C	.	.	.	.	.	.	.	.	.	.	.	0.9997	0.838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.510	11.00	5.55	2.333	4.237	13.317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1300674529	6.841e-07	6.84e-07	0	1.375e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118039	0.66175	D	0.0324083	0.72435	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.	.;.;.;.;.;.	4.151745	0.62284	24.4	0.98534522004825054	0.42632	0.90056	0.50939	D	AEFBI	.	.	.	0.937517340343304	0.93473	12.06262	0.750471313692876	0.86190	8.811363	0.972080066470527	0.29341	0.078448	0.01964	0	0.059962	0.00310	0	0.083675	0.02720	0	0.057018	0.00518	0	0.972276	0.74602	5.55	5.55	0.83298	4.243000	0.58516	7.795000	0.68990	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.107000	0.18608	0.0:0.0:0.0:1.0	13.317	0.59849	690	0.58899	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1578.98	33	chr4	186165466	.	T	C	1578.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.86;DP=821;ExcessHet=0.0000;FS=0.680;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.27;ReadPosRankSum=1.92;SOR=0.778	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1169	20	0	1	0
chr4	186250273	186250273	C	A	exonic	KLKB1	.	nonsynonymous SNV	KLKB1:NM_000892:exon7:c.C629A:p.A210E	Fletcher factor (prekallikrein) deficiency, Autosomal recessive	.	1	1514	7	0	0	7	0.00230643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.991	D	0.935	D	0.002	N	1.000	N	1.14	L	-2.33	D	-1.085	T	0.019	T	0.546	1.128	9.598	3.43	0.719	-0.500	8.632	0.010	.	0.0002	0.00638978	0.0043	0	0.0003	0.0371	0.0174	0.0010	0.0033	0.0007	0.0037192	575	154602	rs2278542	0.0021	0.0021	0.0021	0.0021	0.0463	0.0020	0.0020	0.0445	0.0438	0	0.0001	0	0.0463	0.0168	0.0010	0.0001	0.0026	0.0004	0.0027	0.0027	0.0018	0.0036	0.0334	0.0025	0.0024	0.0293	0.0278	0	0	0.0002	0	0.0334	0.0174	0	0.0006	0.0014	0.0008	0.21	0.19639	T	0.365	0.16717	T	.	.	.	.	.	.	0.002266	0.36887	N	0.179366	1	0.08975	N	.	.	.	-2.33	0.87910	D	-0.8	0.22078	N	0.118	0.10769	-1.0845	0.06498	T	0.019	0.07753	T	10	0.008751869	0.00198	T	.	.	.	0.388	0.70440	.	.	0.788275746721	0.78631	0.5364819353084724	0.53573	0.160567517049	0.18118	0.33969950676	0.16393	T	0.223368	0.58750	T	-0.296551	0.08990	T	-0.158525	0.58484	T	0.0351577803083767	0.02834	T	0.542746	0.18485	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.33133	B	.;.	.;.	-0.038594	0.04024	0.923	0.61457150814241379	0.06714	0.01066	0.03953	N	ALL	0.271477	0.38732	N	-0.520552436457076	0.21416	1.136399	-0.620235656550866	0.18973	1.015965	0.999999999114724	0.74766	0.730579	0.87903	0	0.573888	0.26702	0	0.749866	0.98131	0	0.564101	0.26826	0	.	.	5.21	3.43	0.38372	-0.358000	0.07692	-0.013000	0.13032	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.5028:0.4265:0.0:0.0706	8.632	0.33085	625	0.65529	.;PAN/Apple domain|PAN/Apple domain|Apple domain|Apple domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2830.98	41	chr4	186250273	.	C	A	2830.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.800;DP=1010;ExcessHet=0.0000;FS=2.542;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.15;ReadPosRankSum=-2.970e-01;SOR=0.895	GT:AD:DP:GQ:PL	0/1:90,110:200:99:2845,0,2112	20	0	1	0
chr4	186258152	186258152	C	G	exonic	KLKB1	.	nonsynonymous SNV	KLKB1:NM_000892:exon15:c.C1857G:p.D619E	Fletcher factor (prekallikrein) deficiency, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.977	D	0.798	P	0.000	D	1.000	D	0.78	N	-3.36	D	-0.907	T	0.170	T	0.574	3.945	20.2	4.56	1.500	3.848	13.998	0.030	0.0290297429403	0.0002	.	3.304e-05	0	0	0	0	6.006e-05	0	0	3.88e-05	6	154602	rs145347307	5.336e-05	5.336e-05	4.356e-05	6.325e-05	0.0007	4.344e-05	4.017e-05	0.0002	0.0001	0	2.236e-05	0	0	0	0.0007	5.935e-05	9.935e-05	1.159e-05	5.257e-05	5.254e-05	5.14e-05	5.381e-05	0.0003	2.557e-05	1.83e-05	8.883e-05	5.39e-05	0	0	0.0003	0	0	0	0	5.879e-05	0	0	0.086	0.32610	T	0.041	0.50514	D	.	.	.	.	.	.	0.000008	0.62929	D	0.065936	0.999957	0.81001	D	.	.	.	-3.36	0.94067	D	-2.65	0.56787	D	0.161	0.16864	-0.9073	0.47180	T	0.170	0.51133	T	10	0.44959038	0.58614	T	0.02903	0.51609	D	0.739	0.90939	0.525	0.62967	0.92718707363	0.92644	0.6797947361212279	0.67918	0.243512233698	0.26853	0.386242538691	0.23139	T	.	.	.	0.0490678	0.58224	T	0.0130021	0.71176	D	0.397827118635178	0.28860	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.44822	B	.	.	2.957299	0.39368	20.9	0.99685347370648913	0.79574	0.98793	0.86927	D	AEFDBI	0.894859	0.83428	D	0.127688396272716	0.47756	2.997046	0.214207548815467	0.50635	3.253541	0.999637476241604	0.41205	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.564101	0.26826	0	.	.	5.41	4.56	0.55644	3.936000	0.56280	1.403000	0.26213	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.754000	0.35928	0.0:0.9278:0.0:0.0722	13.998	0.63932	617	0.66297	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3498.98	144	chr4	186258152	.	C	G	3498.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.113;DP=2693;ExcessHet=0.0000;FS=2.794;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=-1.955e+00;SOR=0.535	GT:AD:DP:GQ:PL	0/0:126,0:126:99:0,120,1800	20	0	1	0
chr4	186609920	186609920	C	T	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon15:c.G9949A:p.D3317N,	.	.	434	1084	4	0	0	4	0.00184162	.	.	709287	FAT1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.34	T	1.0	D	1.0	D	0.000	D	1.000	D	0.455	N	4.67	T	-0.568	T	0.013	T	0.091	3.267	16.96	5.22	2.721	7.590	18.975	0.349	0.0962073401596	0.0002	0.000199681	0.0006	0.0002	0.0003	0.0001	0	0.0003	0.0022	0.0025	0.0004722	73	154602	rs199989457	0.0006	0.0006	0.0005	0.0007	0.0026	0.0006	0.0005	0.0023	0.0022	0.0001	0.0003	0	5.038e-05	1.873e-05	0.0007	0.0005	0.0005	0.0026	0.0004	0.0004	0.0005	0.0002	0.0027	0.0003	0.0003	0.0016	0.0013	0.0001	0	0	0	0	0	0	0.0005	0.0005	0.0027	0.041	0.41915	D	0.248	0.23914	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.4	0.35362	L	4.67	0.01735	T	-1.53	0.37178	N	0.759	0.75742	-0.5681	0.66090	T	0.013	0.05081	T	10	0.05082819	0.04874	T	0.096207	0.76563	D	0.349	0.67049	.	.	0.432154444652	0.42834	0.519538591575162	0.51876	0.49701952007	0.48195	0.648297071457	0.59744	T	0.117551	0.43771	T	-0.554586	0.00274	T	-0.574638	0.15027	T	0.0596797902304094	0.07118	T	0.60154	0.22486	T	0.19423354	0.41165	0.115783885	0.27951	0.19423354	0.41165	0.115783885	0.27950	-3.675	0.18950	T	.	.	0.242	0.47665	B	.;.	.;.	3.890713	0.56604	23.8	0.99435982602710948	0.64522	0.98907	0.88457	D	AEFBI	0.942213	0.94651	D	0.412761421925094	0.62121	4.423162	0.403800005964557	0.61800	4.385445	0.999999999999777	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.668105	0.65232	0	.	.	5.22	5.22	0.72285	7.844000	0.85149	5.924000	0.51211	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.003000	0.05239	0.0:1.0:0.0:0.0	18.975	0.92708	864	0.32732	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1157.98	37	chr4	186609920	.	C	T	1157.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=805;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.01;ReadPosRankSum=0.731;SOR=0.643	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1314	20	0	1	0
chr4	186618051	186618051	C	T	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon10:c.G8535A:p.M2845I,	.	.	437	1076	8	1	0	10	0.00462535	.	.	709288	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.39	T	0.0	B	0.003	B	0.110	N	0.991	N	-0.45	N	0.74	T	-1.070	T	0.043	T	0.066	0.139	4.748	2.97	1.383	0.340	3.139	0.043	0.00525293207678	0.0031	0.000599042	0.0027	0.0005	0.0019	0	0.0005	0.0041	0.0056	0.0012	0.0026067	403	154602	rs138948513	0.0029	0.0029	0.0028	0.0029	0.0038	0.0028	0.0028	0.0026	0.0025	0.0001	0.0019	0.0317	0	0.0003	0.0038	0.0026	0.0044	0.0013	0.0026	0.0026	0.0027	0.0025	0.0031	0.0024	0.0023	0.0025	0.0024	0.0006	0	0.0031	0.0328	0	0.0003	0.0034	0.0028	0.0033	0.0006	0.047	0.40319	D	0.219	0.25987	T	0.0	0.02946	B	0.003	0.08700	B	0.110024	0.19459	N	0.595450	0.990862	0.24114	N	-0.415	0.02918	N	0.74	0.50459	T	-0.75	0.21003	N	0.078	0.06059	-1.0695	0.09523	T	0.043	0.18576	T	10	0.011210442	0.00246	T	0.005253	0.13402	T	0.043	0.11576	0.43	0.47843	0.27132560031	0.26736	0.12022670813363842	0.11949	0.106771979007	0.12062	0.312404096127	0.12270	T	0.09343	0.39209	T	-0.599756	0.00146	T	-0.638276	0.09796	T	0.00361396936645843	0.00038	T	0.637336	0.25103	T	0.123832844	0.29069	0.12070323	0.29128	0.12337377	0.28971	0.11619297	0.28049	-2.084	0.03516	T	.	.	0.159	0.35098	B	.;.	.;.	1.350602	0.17583	13.25	0.9571054709978154	0.27618	0.55025	0.29761	D	AEFDBCI	0.117762	0.23056	N	-0.660860733478906	0.17144	0.8797289	-0.510065658348824	0.21879	1.185729	0.999979589567119	0.50053	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.668105	0.65232	0	.	.	4.86	2.97	0.33479	0.222000	0.17482	0.239000	0.16284	0.599000	0.40250	0.966000	0.33990	0.267000	0.24023	0.234000	0.22842	0.2112:0.4363:0.2644:0.0881	3.139	0.06063	878	0.29785	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5783.08	125	chr4	186618051	.	C	T	5783.08	.	AC=2;AF=0.048;AN=42;DP=1870;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.76;SOR=0.876	GT:AD:DP:GQ:PL	0/0:163,0:163:99:0,120,1800	20	1	0	0
chr4	186618560	186618560	C	G	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon10:c.G8026C:p.V2676L,	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.01	B	0.018	B	0.007	N	1.000	N	1.19	L	0.72	T	-1.027	T	0.089	T	0.185	0.222	5.196	1.12	0.058	0.245	10.379	0.043	0.00733828304228	.	0.000199681	3.314e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs557631884	9.578e-06	9.577e-06	2.723e-06	1.65e-05	0.0002	5.56e-06	4.35e-06	7.997e-05	6.236e-05	0	0	0	0	0	0.0002	0	1.656e-05	0.0001	6.563e-06	6.561e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.167	0.23095	T	0.162	0.31225	T	0.01	0.15535	B	0.018	0.18489	B	0.007045	0.31632	N	0.341183	1	0.08975	N	0.985	0.24966	L	0.72	0.50976	T	-0.64	0.18670	N	0.264	0.29889	-1.0270	0.21429	T	0.089	0.34298	T	10	0.09311214	0.16451	T	0.007338	0.19469	T	0.043	0.11576	0.664	0.80199	0.149567049428	0.14543	0.23989042883634787	0.23903	0.0990663541488	0.11194	0.234075695276	0.02283	T	0.080837	0.36457	T	-0.408768	0.02025	T	-0.532795	0.19008	T	0.023543945489451	0.01088	T	0.905909	0.66829	D	0.026692702	0.01759	0.04272596	0.05155	0.026692702	0.01759	0.04272596	0.05155	-4.78	0.34357	T	.	.	0.114	0.22680	B	.;.	.;.	0.662593	0.10309	7.041	0.86493663700079793	0.16573	0.24148	0.22303	N	AEFBCI	0.178402	0.30567	N	-1.01412642813013	0.08310	0.3891959	-0.9720319844962	0.10417	0.5244832	0.989236500070531	0.31763	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.668105	0.65232	0	.	.	5.09	1.12	0.19700	0.305000	0.19006	0.266000	0.16602	-0.898000	0.02344	0.001000	0.13787	0.001000	0.17328	0.552000	0.30221	0.0:0.505:0.0:0.495	10.379	0.43284	878	0.29785	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1133.98	125	chr4	186618560	.	C	G	1133.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.820e-01;DP=1747;ExcessHet=0.0000;FS=0.823;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.34;ReadPosRankSum=-1.308e+00;SOR=0.551	GT:AD:DP:GQ:PL	0/0:158,0:158:99:0,120,1800	20	0	1	0
chr4	186618941	186618941	A	G	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon10:c.T7645C:p.F2549L,	.	.	.	.	.	.	.	.	.	.	.	2098706	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.65	T	0.107	B	0.078	B	0.000	N	1.000	D	1.3	L	4.7	T	-0.865	T	0.006	T	0.219	1.167	9.749	4.02	1.108	7.290	10.987	0.135	0.0198749686404	8.5e-05	0.000399361	0.0002	0.0001	0.0006	0	0.0002	0.0002	0.0011	0	0.0002135	33	154602	rs183730071	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0005	0.0004	0.0001	0.0007	0	0	3.748e-05	0.0010	0.0003	0.0007	1.159e-05	0.0002	0.0002	0.0003	0.0002	0.0003	0.0002	0.0001	0.0002	0.0001	0.0002	0	0.0003	0	0.0002	0	0	0.0002	0.0009	0	0.565	0.06282	T	0.22	0.25907	T	0.107	0.26081	B	0.078	0.28627	B	0.000004	0.62929	N	0.115606	1	0.81001	D	0.21	0.09513	N	4.7	0.01673	T	-0.56	0.17003	N	0.254	0.28732	-0.8646	0.50930	T	0.006	0.02093	T	10	0.06730673	0.09359	T	0.019875	0.42352	T	0.135	0.36572	0.465	0.53566	0.221019684889	0.21715	0.5092797905965483	0.50849	0.12580541079	0.14181	0.618342876434	0.55494	T	0.095962	0.39728	T	-0.477598	0.00764	T	-0.558514	0.16515	T	0.0220766165133416	0.00917	T	0.643236	0.25495	T	0.068656236	0.14976	0.08548176	0.19741	0.068656236	0.14976	0.08548176	0.19741	-5.911	0.45528	T	.	.	0.814	0.77955	P	.;.	.;.	2.129326	0.27108	17.35	0.92679349111561515	0.22164	0.96353	0.68724	D	AEFBCI	0.898266	0.84136	D	-0.173520523395453	0.34241	1.951973	-0.0347326224371773	0.38157	2.244139	0.999999438474763	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.668105	0.65232	0	.	.	5.2	4.02	0.45968	5.320000	0.65621	2.684000	0.34038	0.756000	0.94297	1.000000	0.71638	0.965000	0.29475	0.912000	0.44740	0.9272:0.0:0.0728:0.0	10.987	0.46743	879	0.29470	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2444.98	125	chr4	186618941	.	A	G	2444.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.790e-01;DP=1786;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=0.876;SOR=0.678	GT:AD:DP:GQ:PL	0/0:158,0:158:99:0,120,1800	20	0	1	0
chr4	186620755	186620755	A	G	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon10:c.T5831C:p.L1944S,	.	.	.	.	.	.	.	.	.	.	.	2779164	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.49	T	1.0	D	1.0	D	0.000	D	1.000	D	0.015	N	0.72	T	-0.921	T	0.142	T	0.854	2.455	14.17	5.26	2.212	9.139	15.335	0.446	0.0217550202205	.	.	.	.	.	.	.	.	.	.	.	.	.	rs752610003	7.525e-06	7.524e-06	8.168e-06	6.876e-06	8.994e-06	4.04e-06	2.95e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.994e-06	1.656e-05	0	1.314e-05	1.313e-05	1.285e-05	1.346e-05	4.828e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	0	0	0	0.293	0.14843	T	1.0	0.01155	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.135	0.08676	N	0.72	0.50976	T	-2.48	0.54059	N	0.831	0.82660	-0.9215	0.45348	T	0.142	0.46349	T	10	0.76633495	0.76733	D	0.021755	0.44572	T	0.446	0.74797	0.724	0.85850	0.495172024023	0.49151	0.5195307007724146	0.51876	0.590995487374	0.54545	0.699218571186	0.67031	T	0.302517	0.67492	T	0.182352	0.72259	D	0.0241601	0.71900	D	0.706141373382883	0.41012	D	0.964304	0.86758	D	0.31763086	0.54438	0.270825	0.52977	0.31763086	0.54438	0.270825	0.52976	-8.477	0.64277	D	.	.	0.889	0.82041	P	.;.	.;.	3.487465	0.48728	22.7	0.99438499693600735	0.64621	0.97291	0.73831	D	AEFBCI	0.894707	0.83397	D	0.410892030037746	0.62019	4.411359	0.461672737925845	0.65471	4.827871	0.999999999999328	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.668105	0.65232	0	.	.	5.26	5.26	0.73479	7.521000	0.80758	8.121000	0.76624	0.756000	0.94297	1.000000	0.71638	0.973000	0.29867	0.888000	0.42677	1.0:0.0:0.0:0.0	15.335	0.73955	896	0.25515	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3038.98	125	chr4	186620755	.	A	G	3038.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=1820;ExcessHet=0.0000;FS=1.043;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=-9.620e-01;SOR=0.610	GT:AD:DP:GQ:PL	0/0:169,0:169:99:0,120,1800	20	0	1	0
chr4	186628247	186628247	C	G	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon9:c.G4717C:p.E1573Q,	.	.	.	.	.	.	.	.	.	.	.	709292	not_provided|FAT1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.999	D	0.000	D	1.000	D	3.465	M	-0.98	T	0.378	D	0.615	D	0.826	3.611	18.38	5.49	2.865	7.651	19.576	0.554	0.0347001670828	0.0021	0.00139776	0.0006	0.0072	0.0004	0	0	0	0.0011	6.261e-05	0.0005692	88	154602	rs138797966	0.0002	0.0002	0.0002	0.0001	0.0061	0.0002	0.0002	0.0054	0.0052	0.0061	0.0005	0	0	0	0.0003	4.497e-06	0.0008	8.118e-05	0.0018	0.0018	0.0015	0.0020	0.0059	0.0016	0.0015	0.0053	0.0051	0.0059	0	0.0008	0	0	0	0	1.47e-05	0.0028	0.0002	0.054	0.38633	T	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.435	0.92070	M	-0.98	0.75789	T	-2.38	0.52451	N	0.953	0.96187	0.378	0.88766	D	0.615	0.86401	D	10	0.025452375	0.00739	T	0.035	0.55851	D	0.554	0.81601	.	.	0.79768132952	0.79579	0.6574459583983108	0.65681	0.500835448666	0.48483	0.656650841236	0.60930	T	0.405744	0.76184	T	-0.0358607	0.46561	T	0.178324	0.81900	D	0.123471878412756	0.14766	T	0.970803	0.89535	D	0.47953004	0.65872	0.25412813	0.51072	0.47953004	0.65872	0.25412813	0.51071	-7.131	0.54984	T	.	.	0.368	0.57714	A	.;.	.;.	3.949705	0.57854	23.9	0.99733668833449707	0.82975	0.99219	0.92988	D	AEFDBI	0.931713	0.92095	D	0.752541029791365	0.83069	7.922056	0.603455757739156	0.75190	6.267006	1.0	0.98316	0.719381	0.83141	0	0.573888	0.26702	0	0.723133	0.82415	0	0.668105	0.65232	0	.	.	5.49	5.49	0.81022	7.905000	0.86479	7.699000	0.66186	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.018000	0.11154	0.0:1.0:0.0:0.0	19.576	0.95436	913	0.21160	Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1718.98	34	chr4	186628247	.	C	G	1718.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.185e+00;DP=860;ExcessHet=0.0000;FS=4.597;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.55;ReadPosRankSum=-5.020e-01;SOR=0.745	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1325	20	0	1	0
chr4	186636653	186636653	T	C	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon5:c.A3904G:p.I1302V,	.	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.996	D	0.994	D	0.000	D	1.000	D	1.69	L	-0.22	T	-0.255	T	0.418	T	0.47	2.563	14.53	5.31	2.236	7.868	15.430	0.343	0.0187553311187	.	.	0.0002	0	0	0	0	1.499e-05	0	0.0012	0.0001294	20	154602	rs752677928	7.252e-05	7.251e-05	3.403e-05	0.0001	0.0010	6.115e-05	5.7e-05	0.0008	0.0007	0	0	0	0	0	0.0005	1.079e-05	0.0001	0.0010	3.283e-05	3.281e-05	3.854e-05	2.686e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.0	0.91255	D	0.0	0.92824	D	0.996	0.68779	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.245	0.63543	M	-0.22	0.66474	T	-0.98	0.25986	N	0.617	0.77132	-0.2549	0.76227	T	0.418	0.76449	T	10	0.42757428	0.57276	T	0.018755	0.40927	T	0.343	0.66488	0.679	0.81691	0.628150982837	0.62511	0.24711120190201122	0.24625	0.46188562205	0.45726	0.4225705266	0.28190	T	0.126023	0.45212	T	-0.227579	0.16971	T	-0.14523	0.59664	T	0.208072431874858	0.20852	T	0.905509	0.66687	D	0.53347015	0.69028	0.4680823	0.69145	0.53347015	0.69029	0.4680823	0.69145	-6.161	0.47607	T	.	.	0.136	0.29642	B	.;.	.;.	3.585813	0.50577	23.0	0.99786248202535333	0.87219	0.96300	0.68467	D	AEFBCI	0.928320	0.91236	D	0.50207774608034	0.67212	5.051711	0.426096497527748	0.63196	4.548615	0.999999722172978	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.31	5.31	0.75063	8.017000	0.88732	6.123000	0.53812	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.050000	0.15192	0.0:0.0:0.0:1.0	15.430	0.74818	897	0.25382	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2930.98	38	chr4	186636653	.	T	C	2930.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.890e-01;DP=944;ExcessHet=0.0000;FS=2.344;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=-2.460e-01;SOR=0.542	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1295	20	0	1	0
chr4	186707187	186707187	G	A	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon2:c.C2641T:p.R881C,	.	.	425	1066	28	3	0	34	0.0156971	.	.	438286	not_provided|FAT1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.04	D	0.989	D	0.606	P	0.115	N	1.000	N	2.385	M	0.56	T	-0.852	T	0.212	T	0.255	1.321	10.33	-2.2	-0.204	1.097	3.585	0.167	0.0338106689535	0.0015	0.000998403	0.0017	0.0003	0.0015	0	0	0.0018	0.0033	0.0035	0.0015847	245	154602	rs201450896	0.0015	0.0015	0.0014	0.0017	0.0097	0.0015	0.0015	0.0077	0.0069	0.0002	0.0018	0.0008	2.519e-05	0	0.0097	0.0014	0.0021	0.0044	0.0011	0.0011	0.0011	0.0012	0.0054	0.0010	0.0009	0.0038	0.0032	0.0002	0	0.0010	0.0003	0	0	0.0102	0.0015	0.0043	0.0054	0.009	0.57480	D	0.025	0.56192	D	0.989	0.62824	D	0.606	0.50970	P	0.114532	0.02670	N	1.883110	1	0.08975	N	2.23	0.63091	M	0.56	0.54540	T	-1.87	0.43717	N	0.182	0.22098	-0.8518	0.51844	T	0.212	0.57267	T	10	0.008993685	0.00203	T	0.033811	0.55241	D	0.167	0.42761	.	.	0.243972157842	0.24002	0.3319725439724967	0.33110	0.351578093821	0.36998	0.195696264505	0.00343	T	0.333072	0.70296	T	-0.454046	0.01069	T	-0.424441	0.30566	T	0.0364767739484458	0.03063	T	0.89491	0.63503	D	0.19746956	0.41612	0.12527846	0.30188	0.17900121	0.38948	0.098410204	0.23459	-6.26	0.48405	T	.	.	0.091	0.13221	B	.;.	.;.	2.316829	0.29664	18.19	0.99753863442376001	0.84460	0.19149	0.20547	N	AEFBCI	0.277295	0.39184	N	-0.389765607521063	0.25832	1.405275	-0.657358439277049	0.18031	0.9614473	0.999753829792286	0.42595	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.668105	0.65232	0	.	.	4.6	-2.2	0.06601	1.237000	0.32298	0.309000	0.17063	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1191:0.4227:0.3403:0.1179	3.585	0.07518	950	0.11238	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	5028.11	121	chr4	186707187	.	G	A	5028.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.31;DP=3134;ExcessHet=0.1072;FS=5.722;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.33;ReadPosRankSum=1.64;SOR=0.777	GT:AD:DP:GQ:PL	0/0:158,0:158:99:0,120,1800	19	0	2	0
chr4	186707265	186707265	C	T	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon2:c.G2563A:p.G855R,	.	.	434	1081	7	0	0	7	0.00322729	.	.	413677	not_provided|FAT1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	3.025	M	0.94	T	-0.326	T	0.258	T	0.961	3.127	16.45	4.85	2.518	4.779	18.143	0.584	0.0376923304128	0.0022	0.000798722	0.0022	0.0004	0.0029	0.0001	0.0003	0.0033	0.0022	0	0.0021216	328	154602	rs180820128	0.0024	0.0024	0.0024	0.0024	0.0073	0.0023	0.0023	0.0055	0.0049	0.0004	0.0034	0.0030	0	0.0002	0.0073	0.0028	0.0022	0.0001	0.0022	0.0022	0.0023	0.0020	0.0048	0.0020	0.0019	0.0039	0.0036	0.0004	0	0.0048	0.0035	0	0.0003	0	0.0032	0.0038	0.0004	0.034	0.44029	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	0.94	0.43672	T	-5.56	0.86296	D	0.599	0.63798	-0.3257	0.74260	T	0.258	0.62900	T	10	0.030697048	0.01198	T	0.037692	0.57774	D	0.584	0.83305	0.796	0.91657	0.523185410202	0.51965	0.6732314886380841	0.67261	0.266950008478	0.29230	0.568442583084	0.48457	T	0.415076	0.76844	T	-0.0902377	0.38037	T	0.0958137	0.76631	D	0.0699919507460246	0.08650	T	0.904909	0.66542	D	0.6330527	0.74461	0.43370086	0.66914	0.5659745	0.70840	0.48331788	0.70087	-11.123	0.80328	D	.	.	0.518	0.65390	A	.;.	.;.	4.233787	0.64133	24.7	0.99878646372380731	0.95491	0.95969	0.66943	D	AEFBCI	0.771009	0.70577	D	0.522314213594677	0.68412	5.213571	0.356659250097138	0.58911	4.064649	0.999999999999998	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.668105	0.65232	0	.	.	4.85	4.85	0.62375	5.003000	0.63708	7.654000	0.63860	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.185000	0.21450	0.0:1.0:0.0:0.0	18.143	0.89578	951	0.11083	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3327.98	112	chr4	186707265	.	C	T	3327.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.969;DP=2955;ExcessHet=0.0000;FS=4.091;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.31;ReadPosRankSum=0.689;SOR=0.461	GT:AD:DP:GQ:PL	0/0:139,0:139:99:0,120,1800	20	0	1	0
chr4	186709230	186709230	T	C	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon2:c.A598G:p.T200A,	.	.	.	.	.	.	.	.	.	.	.	2015272	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.47	T	0.619	P	0.442	B	0.000	D	1.000	D	1.205	L	0.76	T	-1.012	T	0.133	T	0.442	3.816	19.38	5.2	2.183	7.868	14.875	0.213	0.0139204021409	.	.	8.281e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs759289718	2.052e-06	2.052e-06	1.361e-06	2.751e-06	2.987e-05	5.5e-07	1.5e-07	.	.	2.987e-05	0	0	0	0	0	8.994e-07	0	1.159e-05	2.628e-05	2.627e-05	3.855e-05	1.345e-05	9.655e-05	8.14e-06	5.14e-06	3.25e-05	1.915e-05	9.655e-05	0	0	0	0	0	0	0	0	0	0.02	0.72154	D	0.025	0.56192	D	0.619	0.39896	P	0.442	0.45773	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.74	0.45129	L	0.76	0.49919	T	-3.32	0.76496	D	0.778	0.77507	-1.0117	0.26385	T	0.133	0.44642	T	10	0.3749842	0.53762	T	0.01392	0.33681	T	0.213	0.50496	0.391	0.41443	0.607915438731	0.60477	0.35044020351055066	0.34958	0.1757065281	0.19779	0.38082292676	0.22373	T	0.417799	0.77033	T	-0.179012	0.23883	T	-0.258246	0.49000	T	0.454565449942856	0.30965	T	0.865913	0.59309	D	0.35197732	0.57220	0.26765698	0.52625	0.35197732	0.57220	0.26765698	0.52624	-7.453	0.57279	T	.	.	0.091	0.14751	B	.;.;.	.;.;.	3.999305	0.58918	24.0	0.99806934635467981	0.89085	0.96153	0.67775	D	AEFBCI	0.931924	0.92150	D	0.281637925661167	0.55216	3.68599	0.381661247129713	0.60434	4.230999	0.999999999954201	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.668105	0.65232	0	.	.	5.2	5.2	0.71720	8.017000	0.88732	5.097000	0.47403	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.885000	0.42453	0.0:0.0:0.0:1.0	14.875	0.70125	945	0.12563	Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2841.98	40	chr4	186709230	.	T	C	2841.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=1977;ExcessHet=0.0000;FS=1.759;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.73;ReadPosRankSum=0.640;SOR=0.831	GT:AD:DP:GQ:PL	0/0:147,0:147:99:0,120,1800	20	0	1	0
chr4	188139649	188139649	T	A	exonic	TRIML1	.	nonsynonymous SNV	TRIML1:NM_178556:exon1:c.T91A:p.C31S,	.	.	430	1071	19	2	0	23	0.0106236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	4.22	H	0.57	T	0.257	D	0.428	T	0.373	4.692	26.0	5.59	2.263	7.353	14.037	0.541	.	0.0083	0.00299521	0.0072	0.0024	0.0042	0	0.0035	0.0107	0.0078	0.0035	0.0072379	1119	154602	rs62618670	0.0097	0.0097	0.0097	0.0097	0.0113	0.0096	0.0095	0.0111	0.0111	0.0020	0.0053	0.0068	5.04e-05	0.0039	0.0109	0.0113	0.0089	0.0039	0.0075	0.0075	0.0081	0.0070	0.0120	0.0072	0.0070	0.0113	0.0110	0.0019	0.0263	0.0096	0.0072	0	0.0028	0.0102	0.0120	0.0052	0.0023	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000027	0.55875	D	0.000000	0.999839	0.49637	D	4.42	0.98718	H	0.57	0.54347	T	-9.34	0.98340	D	0.952	0.96072	0.257	0.86855	D	0.428	0.77055	T	10	0.018459052	0.00402	T	.	.	.	0.541	0.80842	0.96	0.99583	0.735379351521	0.73301	0.6699191004055212	0.66929	0.283721209908	0.30810	0.642670512199	0.58944	T	0.18462	0.53733	T	-0.311884	0.07584	T	-0.211381	0.53562	T	0.121879094384851	0.14612	T	0.979302	0.92791	D	0.9858612	0.99523	0.9732791	0.99600	0.9858612	0.99523	0.9732791	0.99600	-8.917	0.67161	D	.	.	0.924	0.84533	P	.	.	4.688179	0.75090	26.3	0.99441462626623878	0.64770	0.98736	0.86194	D	AEFI	0.876536	0.80060	D	1.02061756839301	0.96344	14.58287	0.923185732623559	0.96505	14.77977	0.999213322290424	0.38775	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.59	5.59	0.84677	7.131000	0.76850	3.822000	0.39956	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	14.037	0.64172	985	0.02828	Zinc finger, RING-type, conserved site|Zinc finger, RING-type|Zinc finger, RING-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1290.11	33	chr4	188139649	.	T	A	1290.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.08;DP=837;ExcessHet=0.1072;FS=23.094;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=7.87;ReadPosRankSum=-4.700e-02;SOR=0.813	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1348	19	0	2	0
chr4	189953067	189953067	G	-	splicing	FRG1	NM_004477:exon4:c.260-1G>-	.	.	.	.	163	1297	62	0	0	62	0.0233434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1265231392	9.088e-05	0.0008	7.134e-05	0.0001	0.0010	7.78e-05	7.313e-05	0.0007	0.0006	0.0010	0.0007	0.0001	0.0002	0	0.0005	9.121e-06	5.156e-05	0.0006	0.0002	0.0035	0.0002	0.0003	0.0009	0.0002	0.0002	0.0006	0.0005	0.0009	0	6.595e-05	0	0	0	0	2.945e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	777.73	8	chr4	189953066	.	AG	A	777.73	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.00;DP=498;ExcessHet=0.3300;FS=2.572;InbreedingCoeff=-0.0692;MLEAC=2;MLEAF=0.048;MQ=52.25;MQRankSum=-3.324e+00;QD=5.33;ReadPosRankSum=1.01;SOR=0.911	GT:AD:DP:GQ:PL	0/0:24,0:24:72:0,72,613	18	0	3	0
chr4	189953101	189953101	C	T	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon4:c.C293T:p.T98M,	.	.	169	1019	334	0	0	334	0.140809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.952	P	0.4	B	0.000	D	1.000	D	.	.	1.78	T	-0.892	T	0.126	T	0.825	3.426	17.58	3.71	2.022	4.314	13.859	0.267	.	.	.	0.4080	0.3423	0.3991	0.3531	0.3948	0.4099	0.4323	0.4613	0.0003816	59	154602	rs201275486	7.611e-05	0.0007	8.045e-05	7.169e-05	0.0003	6.427e-05	5.97e-05	0.0002	0.0002	6.318e-05	0.0003	0.0001	2.682e-05	0.0001	0.0003	5.437e-05	5.221e-05	0.0003	7.555e-05	0.0010	4.012e-05	0.0001	5.02e-05	4.146e-05	3.255e-05	8.32e-06	3.11e-06	5.02e-05	0	0	0	0	0.0007	0	3.052e-05	0	0	0.04	0.42199	D	0.067	0.44302	T	0.952	0.54136	P	0.4	0.44481	B	0.000001	0.84330	D	0.093692	1	0.81001	D	.	.	.	1.78	0.52642	T	-4.29	0.76414	D	0.333	0.37405	-0.8920	0.48758	T	0.126	0.43174	T	9	0.005040586	0.00109	T	.	.	.	0.267	0.58126	.	.	.	.	0.7086331413770478	0.70805	0.761265370882	0.64277	0.643288969994	0.59033	T	0.592736	0.86832	D	0.145454	0.68842	D	-0.0288412	0.68446	D	0.0610726985776521	0.07336	T	.	.	.	0.11254749	0.26589	0.23484966	0.48713	0.11254749	0.26589	0.23484966	0.48712	-9.66	0.71851	D	.	.	0.172	0.47039	B	.;.	.;.	3.588897	0.50628	23.0	0.99818926167319089	0.90238	0.93303	0.57857	D	AEFBI	0.649950	0.62423	D	0.332693509411821	0.57835	3.952406	0.333491443171521	0.57519	3.917869	0.999999999185946	0.74766	0.732398	0.92422	0	0.644132	0.57912	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	3.71	3.71	0.41733	4.481000	0.59983	3.605000	0.39235	-0.252000	0.07121	1.000000	0.71638	0.999000	0.35428	0.157000	0.20547	0.0:1.0:0.0:0.0	13.859	0.63048	991	0.01385	.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.09524	305.29	14	chr4	189953101	.	C	T	305.29	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-6.690e-01;DP=450;ExcessHet=0.6776;FS=1.232;InbreedingCoeff=-0.1117;MLEAC=4;MLEAF=0.095;MQ=53.46;MQRankSum=-2.187e+00;QD=4.49;ReadPosRankSum=1.26;SOR=0.454	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:27,0:27:81:.:.:0,81,684	17	0	4	0
chr4	189953126	189953126	G	T	splicing	FRG1	NM_004477:exon4:c.317+1G>T	.	.	.	.	183	1055	284	0	0	284	0.11863	1.0000	0.936	794301	CIC-rearranged_sarcoma	MONDO:MONDO:0956989,MedGen:C3899764	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.168	16.60	3.53	1.917	8.872	13.458	.	.	.	.	0.0016	0.0032	0.0014	0.0010	0.0009	0.0020	0	0.0006	0.0001153	3	26028	rs770433406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281809	0.81469	D	0.167022	0.81231	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.592813	0.92394	32	0.99300431696382707	0.58613	0.97908	0.78038	D	AEFBI	.	.	.	1.05490941371048	0.97203	15.74775	0.843458885629421	0.92630	11.53725	0.999999998414614	0.74766	0.258101	0.04556	0	0.375	0.05954	0	0.083675	0.02720	0	0.109871	0.03346	0	0.829964	0.49773	3.53	3.53	0.39533	8.827000	0.91663	11.037000	0.85129	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.327000	0.25133	0.0:0.0:1.0:0.0	13.458	0.60660	991	0.01385	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	320.37	17	chr4	189953126	.	G	T	320.37	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-6.690e-01;DP=417;ExcessHet=0.6776;FS=2.758;InbreedingCoeff=-0.1133;MLEAC=4;MLEAF=0.095;MQ=52.68;MQRankSum=-2.362e+00;QD=5.09;ReadPosRankSum=1.34;SOR=0.358	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:27,0:27:72:.:.:0,72,1080	17	0	4	0
chr4	189955087	189955087	G	A	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon5:c.G368A:p.G123E,	.	.	13	1487	22	0	0	22	0.00734312	.	.	3193452	FRG1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.158	B	0.231	B	0.000	D	1.000	D	.	.	1.33	T	-0.785	T	0.174	T	0.971	3.358	17.31	4.04	1.964	7.413	14.145	0.472	.	.	.	0.4897	0.4582	0.4997	0.4997	0.4998	0.4878	0.4923	0.5	0.0016429	254	154602	rs1061653	9.094e-05	0.0011	0.0001	7.779e-05	0.0002	7.786e-05	7.318e-05	8.68e-05	8.16e-05	0	0	0	2.555e-05	3.785e-05	0.0002	0.0001	0.0002	5.919e-05	6.639e-06	0.0002	1.296e-05	0	2.442e-05	0	0	.	.	2.442e-05	0	0	0	0	0	0	0	0	0	0.114	0.28646	T	0.13	0.34716	T	0.158	0.28271	B	0.231	0.38266	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.33	0.54347	T	-3.0	0.62343	D	0.348	0.38950	-0.7850	0.56019	T	0.174	0.51785	T	9	0.0034416318	0.00061	T	.	.	.	0.472	0.76554	.	.	.	.	0.8116664237915222	0.81122	0.792136211062	0.65854	0.799077749252	0.81822	T	0.523964	0.83404	D	0.283353	0.81602	D	0.169241	0.81364	D	0.0412919193036066	0.03925	T	.	.	.	0.52535343	0.68566	0.4884381	0.70398	0.52535343	0.68567	0.4884381	0.70399	-12.406	0.86772	D	.	.	0.511	0.65101	A	.;.	.;.	3.676936	0.52319	23.2	0.9910179582551597	0.52496	0.97190	0.73220	D	AEFDBIJ	0.891775	0.82806	D	0.151171549660446	0.48867	3.093769	0.249610940291554	0.52628	3.436328	0.999999999622262	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	4.04	4.04	0.46262	7.759000	0.84086	8.039000	0.76306	-0.305000	0.06155	1.000000	0.71638	1.000000	0.68203	0.057000	0.15750	0.0:0.0:1.0:0.0	14.145	0.64878	990	0.01402	.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.02381	38.01	35	chr4	189955087	.	G	A	38.01	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.064e+00;DP=882;ExcessHet=0.0000;FS=1.778;InbreedingCoeff=-0.0268;MLEAC=1;MLEAF=0.024;MQ=57.36;MQRankSum=-6.432e+00;QD=0.88;ReadPosRankSum=-1.876e+00;SOR=0.954	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1265	20	0	1	0
chr4	189957422	189957422	A	G	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon6:c.A457G:p.N153D,	.	.	0	1406	116	0	0	116	0.0396175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.481	P	0.6	P	0.000	D	1.000	D	2.93	M	1.75	T	-0.731	T	0.247	T	0.482	3.097	16.34	2.99	0.593	9.035	8.215	0.284	.	.	.	0.0034	0.0111	0.0022	0.0049	0.0016	0.0035	0.0030	0.0014	.	.	.	rs75883191	6.849e-07	6.84e-07	1.363e-06	0	2.238e-05	0	0	.	.	0	2.238e-05	0	0	0	0	0	0	0	1.314e-05	1.313e-05	0	2.689e-05	0.0001	2.18e-06	8.2e-07	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	0.004	0.65419	D	0.07	0.57587	T	0.481	0.36761	P	0.6	0.50752	P	0.000000	0.84330	D	0.000000	0.999994	0.58761	D	.	.	.	1.75	0.50459	T	-4.0	0.76900	D	0.695	0.70000	-0.7313	0.58898	T	0.247	0.61612	T	10	0.013607591	0.00288	T	.	.	.	0.284	0.60219	.	.	0.704975094451	0.70241	0.7640813165263183	0.76356	0.838637053971	0.67932	0.781378507614	0.79136	T	0.42077	0.77238	T	-0.0161202	0.49404	T	-0.260932	0.48731	T	0.0720136476709602	0.08931	T	.	.	.	0.8752744	0.89283	0.81120354	0.88976	0.8752744	0.89284	0.81120354	0.88977	-10.66	0.77761	D	.	.	0.624	0.69861	P	.;.;.	.;.;.	4.011073	0.59175	24.1	0.992698776368236	0.57525	0.98165	0.80163	D	AEDGBI	0.835604	0.75348	D	0.0948467970167196	0.46223	2.865952	0.0540996136826596	0.42270	2.553819	0.999760246770189	0.42728	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.683672	0.66515	0	.	.	4.19	2.99	0.33673	7.501000	0.80435	10.407000	0.83325	-0.208000	0.08445	1.000000	0.71638	1.000000	0.68203	0.290000	0.24260	0.9006:0.0:0.0994:0.0	8.215	0.30667	991	0.01385	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	54.21	63	chr4	189957422	.	A	G	54.21	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.609;DP=1767;ExcessHet=0.1072;FS=3.745;InbreedingCoeff=-0.0535;MLEAC=2;MLEAF=0.048;MQ=47.97;MQRankSum=-1.120e+00;QD=0.29;ReadPosRankSum=-6.380e-01;SOR=1.022	GT:AD:DP:GQ:PL	0/0:78,0:78:99:0,120,1800	19	0	2	0
chr4	189957425	189957425	A	G	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon6:c.A460G:p.S154G,	.	.	1	846	675	0	0	675	0.285171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.047	B	0.081	B	0.000	D	1.000	D	0.485	N	2.6	T	-1.080	T	0.058	T	0.714	-0.181	3.117	4.19	1.677	5.001	11.575	0.185	0.011311376018	.	.	.	.	.	.	.	.	.	.	.	.	.	rs189762674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05061	T	1.0	0.03232	T	0.047	0.21998	B	0.081	0.28987	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	2.6	0.41750	T	0.43	0.08971	N	0.459	0.49602	-1.0801	0.07330	T	0.058	0.24391	T	10	0.2421839	0.41410	T	0.011311	0.28804	T	0.185	0.45933	0.71	0.84601	0.556105722742	0.55269	0.4529120959340938	0.45209	0.26085393997	0.28643	0.762159407139	0.76251	T	0.040046	0.25396	T	0.00380976	0.52179	T	-0.232304	0.51549	T	0.277109354734421	0.24049	T	.	.	.	0.28638732	0.51655	0.3411275	0.59856	0.28638732	0.51655	0.3411275	0.59855	-6.244	0.48277	T	.	.	0.080	0.07937	B	.;.;.	.;.;.	3.090452	0.41606	21.4	0.25288622774737562	0.01159	0.90585	0.51883	D	AEDGBI	0.513229	0.54111	D	-0.436064510326238	0.24215	1.305949	-0.265167819402356	0.29255	1.637516	0.999920515020144	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.683672	0.66515	0	.	.	4.19	4.19	0.48645	5.243000	0.65217	7.387000	0.58489	-0.212000	0.08331	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	1.0:0.0:0.0:0.0	11.575	0.50111	991	0.01385	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	2047.95	100	chr4	189957425	.	A	G	2047.95	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-4.170e-01;DP=2475;ExcessHet=4.7172;FS=2.456;InbreedingCoeff=-0.2675;MLEAC=9;MLEAF=0.214;MQ=47.50;MQRankSum=-1.662e+00;QD=1.66;ReadPosRankSum=-7.240e-01;SOR=0.943	GT:AD:DP:GQ:PL	0/0:85,0:85:74:0,74,2248	12	0	9	0
chr5	140060	140060	-	G	exonic	PLEKHG4B	.	frameshift insertion	PLEKHG4B:NM_052909:exon3:c.822dupG:p.S276Kfs*28,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	45.72	7	chr5	140060	.	T	TG	45.72	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-9.670e-01;DP=92;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0994;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=15.24;ReadPosRankSum=0.00;SOR=0.223	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,26	19	0	1	1
chr5	163346	163346	G	A	exonic	PLEKHG4B	.	nonsynonymous SNV	PLEKHG4B:NM_052909:exon13:c.G3274A:p.D1092N,	.	.	416	1103	3	0	0	3	0.00135808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.913	P	0.12	B	.	.	1.000	N	0.695	N	1.47	T	-1.030	T	0.031	T	0.052	0.148	4.797	0.086	-0.474	4.100	5.254	0.168	0.0018484280449	0.0002	0.000998403	0.0007	9.703e-05	0.0003	0.0005	0.0002	0.0005	0.0011	0.0029	0.0007374	114	154602	rs115564310	0.0005	0.0005	0.0005	0.0006	0.0033	0.0005	0.0005	0.0030	0.0029	0.0003	0.0005	3.826e-05	0.0003	0.0002	0.0002	0.0004	0.0005	0.0033	0.0004	0.0004	0.0003	0.0005	0.0031	0.0003	0.0003	0.0019	0.0015	0.0004	0	0.0003	0	0.0008	9.409e-05	0	0.0003	0.0005	0.0031	0.005	0.63226	D	0.322	0.19016	T	0.913	0.50474	P	0.12	0.32230	B	.	.	.	.	0.999694	0.20667	N	1.04	0.26193	L	1.47	0.31987	T	-1.62	0.38924	N	0.099	0.08088	-1.0302	0.20390	T	0.031	0.13286	T	9	0.008468837	0.00192	T	0.001848	0.03219	T	0.168	0.42943	.	.	0.202086224978	0.19791	0.30481180876120373	0.30394	0.252953588297	0.27862	0.441431999207	0.30773	T	0.016338	0.13527	T	-0.605138	0.00136	T	-0.646942	0.09171	T	0.0555186064451544	0.06445	T	0.606739	0.22845	T	0.06872205	0.14994	0.056140784	0.09978	0.06872205	0.14994	0.056140784	0.09978	-4.019	0.24087	T	.	.	0.129	0.27702	B	.;.	.;.	1.382081	0.17934	13.45	0.9277858803814264	0.22294	0.64416	0.32400	D	AEFDGBCI	0.246821	0.36750	N	-0.882564931066548	0.11257	0.5422848	-0.959273630952297	0.10708	0.541073	0.99738141751726	0.35561	0.660377	0.49826	0	0.573888	0.26702	0	0.696353	0.63694	0	0.613276	0.41899	0	.	.	3.14	0.086	0.13755	4.258000	0.58617	0.538000	0.19308	-1.070000	0.01595	1.000000	0.71638	0.000000	0.08366	0.023000	0.12082	0.1274:0.4048:0.4678:0.0	5.254	0.14855	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	981.98	82	chr5	163346	.	G	A	981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=995;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.63;ReadPosRankSum=0.929;SOR=0.641	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,117,1755	20	0	1	0
chr5	169474	169474	A	G	exonic	PLEKHG4B	.	nonsynonymous SNV	PLEKHG4B:NM_052909:exon14:c.A3611G:p.H1204R,	.	.	424	1090	7	1	0	9	0.00411147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.03	B	0.02	B	.	.	0.990	N	-1.805	N	0.08	T	-0.999	T	0.027	T	0.078	-2.354	0.004	0.437	-0.341	5.201	6.780	0.218	.	0.0016	0.0091853	0.0064	0.0042	0.0008	0.0020	0	7.5e-05	0.0033	0.0426	0.0055239	854	154602	rs61750331	0.0027	0.0027	0.0015	0.0039	0.0398	0.0026	0.0026	0.0387	0.0383	0.0032	0.0007	0	0.0017	0	0.0009	8.543e-05	0.0036	0.0398	0.0025	0.0025	0.0018	0.0032	0.0421	0.0023	0.0022	0.0374	0.0355	0.0039	0	0.0004	0	0.0012	0	0	8.819e-05	0	0.0421	1.0	0.00964	T	1.0	0.01155	T	0.03	0.20002	B	0.02	0.19048	B	.	.	.	.	0.989976	0.24230	N	-2.07	0.00169	N	0.08	0.61559	T	1.37	0.00867	N	0.16	0.16725	-0.9985	0.30339	T	0.027	0.11397	T	9	0.0026985705	0.00042	T	.	.	.	0.218	0.51265	.	.	0.225902525712	0.22197	0.32225822215449323	0.32138	0.0999883255849	0.11303	0.264199435711	0.05401	T	0.040859	0.25665	T	-0.550711	0.00289	T	-0.533848	0.18904	T	0.00788626651126651	0.00093	T	0.815518	0.47040	T	0.028916806	0.02304	0.042368334	0.05031	0.028916806	0.02303	0.042368334	0.05030	-0.158	0.00410	T	.	.	0.075	0.05360	B	.;.	.;.	0.794125	0.11644	8.231	0.29920102873735588	0.01611	0.13629	0.17964	N	AEFDBHCIJ	0.045823	0.07537	N	-1.17976520588638	0.05306	0.2415864	-1.0481916977212	0.08745	0.4314519	0.999999987070736	0.74766	0.718356	0.82227	0	0.573888	0.26702	0	0.570548	0.19454	0	0.562822	0.20929	0	.	.	3.41	0.437	0.15767	5.306000	0.65546	0.080000	0.14378	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.052000	0.15357	0.361:0.0:0.639:0.0	6.780	0.22827	912	0.21483	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3579.11	36	chr5	169474	.	A	G	3579.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.272e+00;DP=1005;ExcessHet=0.1072;FS=6.094;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.01;ReadPosRankSum=0.016;SOR=1.008	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1153	19	0	2	0
chr5	173948	173948	G	A	exonic	PLEKHG4B	.	nonsynonymous SNV	PLEKHG4B:NM_052909:exon18:c.G4252A:p.G1418R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	1.0	D	0.993	D	.	.	0.988	D	1.715	L	1.47	T	-1.033	T	0.130	T	0.377	2.519	14.38	2.5	0.407	6.239	8.330	0.253	0.00852496346074	7.7e-05	.	3.491e-05	0.0002	9.065e-05	0	0	1.576e-05	0	0	2.59e-05	4	154602	rs373173703	3.626e-05	3.625e-05	4.084e-05	3.163e-05	0.0003	2.828e-05	2.565e-05	0.0001	0.0001	0.0003	0.0001	0	0	0	0.0003	2.338e-05	8.28e-05	6.96e-05	9.879e-05	9.853e-05	7.722e-05	0.0001	0.0005	6.02e-05	4.891e-05	0.0002	0.0002	0.0002	0	0.0005	0	0	0	0	1.471e-05	0	0	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	.	.	.	.	0.988364	0.40750	D	2.015	0.55033	M	1.47	0.31987	T	-7.73	0.95732	D	0.495	0.52829	-1.0331	0.19459	T	0.130	0.44048	T	9	0.4651409	0.59524	T	0.008525	0.22532	T	0.253	0.56294	0.459	0.52590	0.520535218364	0.51697	0.5762730777405467	0.57556	0.493399900735	0.47940	0.77119654417	0.77604	T	0.280686	0.65340	T	-0.267427	0.12046	T	-0.325725	0.41945	T	0.441020485031084	0.30467	T	0.880812	0.61581	D	0.45656085	0.64456	0.43590772	0.67061	0.45656085	0.64457	0.43590772	0.67061	-8.089	0.61676	D	.	.	0.645	0.79505	P	.;.	.;.	4.507818	0.70568	25.5	0.99837032096498435	0.91800	0.88946	0.49127	D	AEFDGBI	0.751257	0.69212	D	0.150275452480005	0.48826	3.090051	-0.0177800273562211	0.38912	2.29939	0.999987664222092	0.51787	0.67177	0.52595	0	0.59043	0.45803	0	0.702456	0.68683	0	0.562822	0.20929	0	.	.	3.38	2.5	0.29355	6.352000	0.72973	3.209000	0.36791	0.505000	0.23025	1.000000	0.71638	0.999000	0.35428	0.357000	0.25818	0.124:0.0:0.876:0.0	8.330	0.31343	900	0.24599	Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1591.98	38	chr5	173948	.	G	A	1591.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.61;DP=829;ExcessHet=0.0000;FS=0.674;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=1.23;SOR=0.579	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr5	194979	194979	C	T	exonic	LRRC14B	.	nonsynonymous SNV	LRRC14B:NM_001080478:exon2:c.C1171T:p.R391C,	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.017	B	0.005	B	0.014	N	0.528	N	1.2	L	2.75	T	-1.087	T	0.023	T	0.154	1.325	10.35	3.82	0.702	0.457	8.166	0.059	0.00323093107424	8e-05	.	1.764e-05	0	0	0	0	3.212e-05	0	0	6.5e-06	1	154602	rs372575884	2.122e-05	2.121e-05	2.044e-05	2.202e-05	2.519e-05	1.521e-05	1.325e-05	1.663e-05	1.425e-05	0	2.237e-05	0	2.519e-05	0	0	2.429e-05	0	2.319e-05	6.568e-06	6.566e-06	0	1.344e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.11	0.29158	T	0.17	0.30436	T	0.017	0.17573	B	0.005	0.11217	B	0.014420	0.28541	N	0.403365	0.528269	0.31512	N	1.805	0.47535	L	2.75	0.11622	T	-4.69	0.79743	D	0.21	0.23380	-1.0868	0.06084	T	0.023	0.09832	T	10	0.118094325	0.22319	T	0.003231	0.07117	T	0.059	0.16972	.	.	0.119812018005	0.11559	0.4417343675967779	0.44090	0.284890240175	0.30903	0.279442101717	0.07415	T	0.211254	0.57197	T	-0.388972	0.02732	T	-0.637031	0.09887	T	0.110599334511887	0.13485	T	0.772923	0.40417	T	0.11123336	0.26286	0.0948312	0.22464	0.11123336	0.26286	0.0948312	0.22464	-6.826	0.52752	T	.	.	0.122	0.25462	B	.	.	2.067726	0.26296	17.07	0.98458559199221218	0.41711	0.35914	0.25412	N	AEFDGBI	0.380772	0.46329	N	-0.700118057031412	0.16019	0.8124731	-0.679270650559781	0.17480	0.9296387	0.999995065742356	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.65	3.82	0.43153	0.512000	0.22461	1.707000	0.28170	0.599000	0.40250	0.110000	0.22992	0.003000	0.18671	0.019000	0.11356	0.1556:0.7584:0.0:0.0859	8.166	0.30391	862	0.33134	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1735.98	111	chr5	194979	.	C	T	1735.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.412;DP=830;ExcessHet=0.0000;FS=0.731;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.64;ReadPosRankSum=-5.400e-02;SOR=0.846	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1194	20	0	1	0
chr5	251002	251002	A	C	exonic	SDHA	.	nonsynonymous SNV	SDHA:NM_001294332:exon11:c.A1418C:p.N473T	Cardiomyopathy, dilated, 1GG;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial respiratory chain complex II deficiency, Autosomal recessive;Paragangliomas 5, Autosomal dominant	.	122	1399	1	0	0	1	0.00035727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.001	B	0.006	B	0.430	U	0.997	N	0.51	N	-1.37	T	-0.929	T	0.215	T	0.036	-1.051	0.193	-3.93	-0.640	-3.282	6.318	0.121	0.0321821890739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.571	0.06164	T	0.68	0.06427	T	0.0	0.02946	B	0.005	0.11217	B	0.430370	0.12755	U	0.704674	0.996534	0.22984	N	0.575	0.15311	N	-1.37	0.80214	T	-0.74	0.24676	N	0.244	0.30118	-0.9287	0.44328	T	0.215	0.57599	T	10	0.06045893	0.07429	T	0.032182	0.54073	D	0.121	0.33580	0.359	0.36222	0.187945064343	0.18414	0.14770715168103155	0.14692	0.493090115459	0.47924	0.434868484735	0.29876	T	0.276804	0.72511	T	-0.227938	0.16923	T	-0.565194	0.15892	T	0.0283496560596192	0.01740	T	0.860114	0.55285	D	0.04512853	0.07335	0.035629217	0.02852	0.04512853	0.07335	0.035629217	0.02852	-6.741	0.52118	T	0.1268683878391736	0.12887	0.089	0.12037	B	.;.;.	.;.;.	-0.801465	0.01104	0.050	0.52610568719877004	0.04780	0.01833	0.05688	N	AEFBI	0.237466	0.35974	N	-1.28566560021281	0.03847	0.173	-1.314204038057	0.04246	0.1998549	0.313482540187262	0.19311	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	3.69	-3.93	0.03868	-3.018000	0.00707	-2.514000	0.03662	0.670000	0.69193	0.000000	0.06391	0.000000	0.08366	0.974000	0.55675	0.6561:0.1548:0.1891:0.0	6.318	0.20407	846	0.36215	Fumarate reductase/succinate dehydrogenase flavoprotein-like, C-terminal;Fumarate reductase/succinate dehydrogenase flavoprotein-like, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	838.98	34	chr5	251002	.	A	C	838.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.690e+00;DP=751;ExcessHet=0.0000;FS=1.960;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=0.756;SOR=0.976	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1126	20	0	1	0
chr5	427907	427907	C	T	exonic	AHRR	.	nonsynonymous SNV	AHRR:NM_001377236:exon8:c.C809T:p.A270V	.	.	420	1090	10	2	0	14	0.00638104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.001	B	0.003	B	0.005	N	1.000	N	-0.345	N	1.95	T	-1.002	T	0.027	T	0.201	-1.104	0.140	-0.028	-0.144	0.208	8.451	0.040	0.00240243416526	0.0003	0.00159744	0.0011	0.0001	0.0006	0.0020	0	0.0012	0.0045	0.0014	0.0009961	154	154602	rs183151904	0.0007	0.0007	0.0007	0.0008	0.0212	0.0007	0.0007	0.0181	0.0170	0.0006	0.0011	0.0041	0.0034	0	0.0212	0.0004	0.0017	0.0012	0.0007	0.0007	0.0007	0.0008	0.0024	0.0006	0.0006	0.0017	0.0015	7.214e-05	0	0.0024	0.0043	0.0015	0	0.0136	0.0005	0.0033	0.0006	0.781	0.03344	T	0.611	0.08134	T	0.001	0.07471	B	0.001	0.08700	B	0.004711	0.33466	N	0.315721	0.958544	0.27007	N	-0.65	0.02095	N	1.94	0.28189	T	-1.11	0.28703	N	0.272	0.34336	-1.0025	0.29197	T	0.027	0.11441	T	10	0.006665617	0.00151	T	0.002402	0.04701	T	0.040	0.10527	.	.	0.136095386433	0.13204	0.5347177831675158	0.56247	0.0815505204476	0.09179	0.417280197144	0.27462	T	0.203534	0.56204	T	-0.566491	0.00232	T	-0.62188	0.11039	T	0.00426728844502535	0.00045	T	0.686431	0.33152	T	0.1173866	0.27675	0.05553307	0.09758	0.1173866	0.27674	0.05553307	0.09757	-4.797	0.34556	T	.	.	0.06	0.03162	B	.;.;.;.	.;.;.;.	-0.273862	0.02733	0.363	0.35238395493284119	0.02200	0.19260	0.20591	N	AEFDGBCI	0.065166	0.12696	N	-1.24601403725839	0.04352	0.1962666	-1.1875601520838	0.06117	0.2934515	0.998212962903759	0.36589	0.67177	0.52595	0	0.702456	0.74545	0	0.578056	0.29568	0	0.699875	0.68795	0	.	.	4.88	-0.0277	0.13251	0.422000	0.21016	-0.832000	0.07252	-1.049000	0.01645	0.964000	0.33853	0.000000	0.08366	0.000000	0.00833	0.0:0.4625:0.0:0.5375	8.451	0.32030	856	0.34373	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1108.98	35	chr5	427907	.	C	T	1108.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.401;DP=911;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=0.246;SOR=0.743	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1146	20	0	1	0
chr5	434169	434169	C	T	exonic	AHRR	.	nonsynonymous SNV	AHRR:NM_001377236:exon11:c.C1429T:p.H477Y	.	.	423	1086	13	0	0	13	0.00594966	.	.	721468	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.962	D	0.573	P	0.041	N	1.000	N	0.805	L	2.22	T	-0.957	T	0.069	T	0.169	2.167	13.20	1.2	0.479	0.459	3.633	0.073	.	0.0048	0.00359425	0.0056	0.0011	0.0009	0	0.0055	0.0069	0.0074	0.0109	0.0053492	827	154602	rs147880563	0.0062	0.0062	0.0059	0.0064	0.0095	0.0061	0.0060	0.0089	0.0087	0.0009	0.0012	0.0020	0	0.0058	0.0039	0.0067	0.0050	0.0095	0.0045	0.0045	0.0044	0.0046	0.0108	0.0042	0.0041	0.0084	0.0076	0.0010	0	0.0011	0.0020	0	0.0042	0.0034	0.0076	0.0028	0.0108	0.085	0.34982	T	1.0	0.92824	T	0.936	0.55554	P	0.369	0.49966	B	0.040595	0.01880	N	2.218850	1	0.08975	N	1.32	0.33002	L	2.22	0.47815	T	-1.27	0.56301	N	0.267	0.30233	-0.9571	0.39717	T	0.069	0.28280	T	10	0.004255086	0.00085	T	.	.	.	0.073	0.21317	.	.	0.5578725173	0.55448	0.10124153312045334	0.10055	0.256332669702	0.28213	0.307414442301	0.11517	T	0.090414	0.38581	T	-0.545108	0.00312	T	-0.54868	0.17453	T	0.00415152301803067	0.00044	T	0.459554	0.19889	T	0.045080632	0.07319	0.04458364	0.05809	0.045080632	0.07318	0.04458364	0.05809	-4.13	0.25730	T	.	.	0.076	0.22753	B	.;.;.;.;.	.;.;.;.;.	0.049266	0.04632	1.294	0.99219875278581615	0.55870	0.10502	0.15991	N	AEFDGBCI	0.048226	0.08206	N	-0.84675744340036	0.12129	0.5893974	-0.927115032470097	0.11455	0.583682	0.999992285977103	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.576033	0.28219	0	0.655142	0.61905	0	.	.	4.69	1.2	0.20181	0.424000	0.21049	0.581000	0.19707	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1982:0.5557:0.146:0.1001	3.633	0.07680	851	0.35303	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1560.98	51	chr5	434169	.	C	T	1560.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.189e+00;DP=1075;ExcessHet=0.0000;FS=9.083;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=-1.063e+00;SOR=1.497	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	20	0	1	0
chr5	434466	434466	C	G	exonic	AHRR	.	nonsynonymous SNV	AHRR:NM_001377236:exon11:c.C1726G:p.P576A	.	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.972	D	0.612	P	0.008	N	1.000	N	0.975	L	2.0	T	-1.079	T	0.047	T	0.146	2.216	13.37	3.77	1.069	0.718	7.627	0.054	0.0108327159803	0.0011	0.000399361	0.0010	0.0001	0.0003	0	0	0.0013	0.0035	0.0013	0.0008538	132	154602	rs200762873	0.0010	0.0010	0.0010	0.0011	0.0021	0.0010	0.0010	0.0012	0.0011	0.0001	0.0006	0	2.519e-05	0	0.0021	0.0012	0.0011	0.0010	0.0008	0.0008	0.0009	0.0007	0.0013	0.0007	0.0006	0.0011	0.0010	0.0002	0	0.0007	0	0.0002	0	0.0068	0.0013	0.0014	0.0008	0.31	0.19361	T	1.0	0.01155	T	0.952	0.57405	P	0.612	0.51145	P	0.007839	0.31171	N	0.305062	0.962396	0.26068	N	1.495	0.37439	L	1.99	0.27032	T	-1.79	0.47008	N	0.43	0.46928	-1.0785	0.07641	T	0.047	0.19958	T	10	0.014721662	0.00309	T	0.010833	0.27810	T	0.054	0.15330	.	.	0.655203476522	0.65232	0.16223611633913132	0.16143	0.308626499717	0.33177	0.314988851547	0.12661	T	0.078795	0.35977	T	-0.533377	0.00367	T	-0.563563	0.16044	T	0.019222533734538	0.00628	T	0.768323	0.39714	T	0.08676331	0.20179	0.06434267	0.12881	0.08676331	0.20178	0.06434267	0.12881	-5.491	0.42792	T	.	.	0.074	0.19760	B	.;.;.;.	.;.;.;.	2.300862	0.29439	18.12	0.99337809931630383	0.60051	0.46747	0.27828	N	AEFDGBCI	0.086726	0.17585	N	-0.265430544617488	0.30491	1.700728	-0.256381256520332	0.29551	1.656577	0.9999988038402	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.576033	0.28219	0	0.655142	0.61905	0	.	.	4.64	3.77	0.42499	1.077000	0.30353	2.035000	0.30272	0.599000	0.40250	0.657000	0.28234	0.974000	0.29927	0.426000	0.27362	0.0:0.8033:0.0:0.1966	7.627	0.27383	851	0.35303	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1559.98	51	chr5	434466	.	C	G	1559.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.306;DP=1104;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.33;ReadPosRankSum=-3.000e-02;SOR=0.665	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	20	0	1	0
chr5	434581	434581	C	G	exonic	AHRR	.	nonsynonymous SNV	AHRR:NM_001377236:exon11:c.C1841G:p.A614G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.763	P	0.366	B	0.063	N	0.819	N	0.695	N	2.13	T	-0.995	T	0.059	T	0.141	1.782	11.92	3.88	1.117	0.303	10.844	0.045	0.00740132644651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.402e-06	1.368e-06	0	2.831e-06	9.137e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.137e-07	1.694e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.31682	T	0.324	0.18903	T	0.651	0.43659	P	0.15	0.43381	B	0.062645	0.02158	N	2.037110	1	0.08975	N	1.24	0.30952	L	2.13	0.25018	T	-1.1	0.34397	N	0.236	0.26596	-0.9953	0.31218	T	0.059	0.24760	T	10	0.09944296	0.18047	T	0.007401	0.19630	T	0.045	0.12272	0.275	0.22687	0.444102476654	0.44032	0.08704438153774698	0.08638	0.216955615391	0.24212	0.405323177576	0.25808	T	0.106057	0.41707	T	-0.254168	0.13591	T	-0.602871	0.12572	T	0.28731444478035	0.24477	T	0.675632	0.28448	T	0.10975059	0.25946	0.070184916	0.14880	0.10975059	0.25946	0.070184916	0.14879	-3.103	0.11330	T	.	.	0.094	0.25166	B	.;.;.;.	.;.;.;.	0.903565	0.12774	9.293	0.96366413413184671	0.29570	0.34353	0.25047	N	AEFDGBCI	0.068185	0.13440	N	-0.575793876995246	0.19682	1.031988	-0.644486031585379	0.18356	0.9802229	0.999999882348898	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	4.75	3.88	0.43959	0.423000	0.21032	1.529000	0.27146	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.0:0.9065:0.0:0.0935	10.844	0.45938	851	0.35303	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1107.98	51	chr5	434581	.	C	G	1107.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.230e+00;DP=1066;ExcessHet=0.0000;FS=3.637;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=1.44;SOR=0.422	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	20	0	1	0
chr5	484604	484604	C	T	exonic	SLC9A3	.	nonsynonymous SNV	SLC9A3:NM_001284351:exon5:c.G848A:p.R283H	Diarrhea 8, secretory sodium, congenital, Autosomal recessive	.	417	1101	4	0	0	4	0.00181324	.	.	1026658	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.022	N	0.853	D	2.455	M	2.28	T	-0.847	T	0.113	T	0.265	3.938	20.1	3.29	0.733	1.269	11.408	0.095	0.0233850214586	0.0003	0.000399361	0.0003	0	8.678e-05	0.0008	0	0.0004	0	0.0005	0.0002846	44	154602	rs146899318	0.0002	0.0002	0.0002	0.0002	0.0023	0.0002	0.0002	0.0013	0.0011	5.974e-05	6.708e-05	0.0003	0.0007	1.902e-05	0.0023	0.0002	0.0003	0.0007	0.0002	0.0002	0.0002	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	4.812e-05	0	0.0002	0	0.0004	9.416e-05	0	0.0003	0.0014	0.0004	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.022015	0.26719	N	0.388074	0.853253	0.35258	D	2.49	0.72568	M	2.28	0.17271	T	-3.85	0.72353	D	0.334	0.39962	-0.8467	0.52195	T	0.113	0.40445	T	10	0.050900668	0.04891	T	0.023385	0.46348	T	0.095	0.27398	.	.	0.641949208653	0.63899	0.35933213292143984	0.35847	1.56596094729	0.88112	0.463921755552	0.33848	T	0.290448	0.66322	T	-0.457765	0.01015	T	-0.475876	0.24885	T	0.141273689064633	0.16384	T	0.939506	0.77539	D	0.5140862	0.67918	0.46029967	0.68653	0.5140862	0.67919	0.46029967	0.68653	-7.297	0.57765	T	.	.	0.105	0.45786	B	.;.;.	.;.;.	4.509838	0.70607	25.5	0.99943923138679147	0.99868	0.67166	0.33334	D	AEFDGBI	0.293932	0.40443	N	0.391361608157656	0.60954	4.290212	0.278267660470065	0.54274	3.592769	0.530787217229501	0.21173	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.16	3.29	0.36801	1.475000	0.35017	2.512000	0.33079	0.599000	0.40250	0.837000	0.30238	0.995000	0.32472	0.987000	0.62547	0.0:0.9095:0.0:0.0905	11.408	0.49148	895	0.25842	Cation/H+ exchanger;Cation/H+ exchanger;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1884.98	39	chr5	484604	.	C	T	1884.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=875;ExcessHet=0.0000;FS=2.914;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=0.382;SOR=0.496	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1176	20	0	1	0
chr5	484656	484656	C	T	exonic	SLC9A3	.	nonsynonymous SNV	SLC9A3:NM_001284351:exon5:c.G796A:p.V266M	Diarrhea 8, secretory sodium, congenital, Autosomal recessive	YES	421	1078	21	2	0	25	0.0114626	.	.	1072823	SLC9A3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.942	P	0.826	P	0.217	N	1.000	N	2.065	M	2.22	T	-1.078	T	0.071	T	0.2	2.093	12.96	2.31	0.871	-0.087	4.255	0.053	0.0213898244609	0.0006	0.000399361	0.0012	0.0002	0.0011	0	0	0.0014	0.0034	0.0019	0.0010155	157	154602	rs140474355	0.0009	0.0009	0.0008	0.0009	0.0085	0.0008	0.0008	0.0066	0.0059	5.974e-05	0.0011	0.0055	2.519e-05	3.817e-05	0.0085	0.0007	0.0015	0.0019	0.0008	0.0008	0.0007	0.0008	0.0016	0.0006	0.0006	0.0011	0.0009	4.809e-05	0	0.0016	0.0063	0	0	0.0068	0.0009	0	0.0012	0.002	0.72154	D	0.008	0.67890	D	0.942	0.52977	P	0.826	0.59373	P	0.216980	0.16229	N	0.617305	1	0.08975	N	2.085	0.57729	M	2.22	0.18248	T	-1.53	0.37759	N	0.328	0.37301	-1.0776	0.07821	T	0.071	0.29066	T	10	0.01545018	0.00324	T	0.02139	0.44151	T	0.053	0.14996	.	.	0.292942362817	0.28906	0.4457684819745284	0.44494	1.85953752139	0.92388	0.435315996408	0.29936	T	0.135649	0.46757	T	-0.553641	0.00277	T	-0.574828	0.15009	T	0.0364475923392912	0.03058	T	0.865513	0.57764	D	0.15742323	0.35472	0.1525973	0.35895	0.15742323	0.35471	0.1525973	0.35894	-7.097	0.55445	T	.	.	0.121	0.25166	B	.;.;.	.;.;.	1.897887	0.24102	16.27	0.99775695929055008	0.86346	0.02601	0.07169	N	AEFDGBI	0.098318	0.19814	N	-0.162198626822734	0.34716	1.985005	-0.314998690435138	0.27615	1.533542	0.108151430030521	0.16575	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.45	2.31	0.27816	-0.588000	0.05867	-0.950000	0.06817	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.725000	0.34934	0.0:0.5039:0.1909:0.3051	4.255	0.10164	895	0.25842	Cation/H+ exchanger;Cation/H+ exchanger;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1325.98	39	chr5	484656	.	C	T	1325.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.179;DP=838;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=-5.940e-01;SOR=0.768	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1176	20	0	1	0
chr5	751153	751153	C	A	exonic	ZDHHC11B	.	nonsynonymous SNV	ZDHHC11B:NM_001351303:exon7:c.G608T:p.R203L,	.	.	519	1002	1	0	0	1	0.000498753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	.	.	.	.	0.006	N	1.000	D	.	.	1.88	T	-1.030	T	0.047	T	0.437	2.624	14.73	1.59	0.097	2.192	5.309	0.219	0.00729784261961	.	.	0.0009	0	0.0003	0	0	0.0015	0	0	0.0005821	90	154602	rs746401975	0.0007	0.0008	0.0007	0.0008	0.0006	0.0007	0.0007	0.0006	0.0006	3.716e-05	0.0001	0.0127	0	2.511e-05	0.0005	0.0006	0.0009	0	0.0002	0.0005	0.0003	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	7.406e-05	0	0	0.0040	0	0	0	0.0003	0	0	0.148	0.24857	T	0.057	0.46406	T	.	.	.	.	.	.	0.005624	0.01087	N	8.645720	1	0.81001	D	1.97	0.53315	M	1.88	0.23884	T	-5.97	0.89272	D	0.508	0.53972	-1.0297	0.20551	T	0.047	0.19958	T	7	0.01323989	0.00282	T	0.007298	0.19361	T	0.219	0.51417	0.538	0.64874	0.31077124679	0.30691	.	.	0.0944986486558	0.10674	.	.	.	0.039617	0.25250	T	-0.400883	0.02284	T	-0.450584	0.27632	T	0.0609102088946176	0.07311	T	0.725627	0.33984	T	0.12185714	0.28647	0.2367683	0.48957	0.12185714	0.28646	0.2367683	0.48956	-8.512	0.64508	D	.	.	0.238	0.47161	B	.;.	.;.	2.724290	0.35642	19.95	0.98561208997130412	0.42973	0.69873	0.34361	D	AEFGI	0.090215	0.18283	N	-0.71867628791125	0.15498	0.7815157	-0.81310169063064	0.14178	0.7394998	1.24605108616444E-4	0.05386	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	3.48	1.59	0.22622	1.759000	0.38049	-0.038000	0.12706	-1.148000	0.01430	0.993000	0.37899	0.002000	0.18203	0.002000	0.04165	0.1996:0.687:0.0:0.1134	5.309	0.15126	964	0.07719	Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	706.98	36	chr5	751153	.	C	A	706.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.080e-01;DP=904;ExcessHet=0.0000;FS=3.555;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=46.40;MQRankSum=-6.251e+00;QD=6.26;ReadPosRankSum=-1.880e-01;SOR=0.715	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr5	840546	840546	A	G	exonic	ZDHHC11	.	nonsynonymous SNV	ZDHHC11:NM_024786:exon5:c.T733C:p.F245L,	.	.	396	1053	73	0	0	73	0.0335016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.0	B	0.002	B	.	.	1.000	N	-0.235	N	1.96	T	-1.058	T	0.035	T	0.468	-1.931	0.008	-5.47	-2.822	-1.604	3.145	0.099	0.00104621411682	.	.	0.0014	0.0052	0.0006	0.0024	0	0.0009	0.0033	0.0016	1.29e-05	2	154602	rs201008730	0.0002	0.0040	0.0002	0.0002	0.0021	0.0002	0.0002	0.0012	0.0010	0.0003	0.0004	3.833e-05	0.0005	1.883e-05	0.0021	0.0002	0.0004	0.0005	0.0008	0.0098	0.0009	0.0007	0.0031	0.0007	0.0006	0.0019	0.0015	0.0017	0	0.0005	0	0.0031	0	0	0.0003	0.0020	0.0008	1.0	0.10802	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.09	0.08384	N	1.96	0.38556	T	1.6	0.33197	N	0.112	0.09914	-1.0577	0.12337	T	0.035	0.15074	T	9	0.0083985925	0.00191	T	0.001046	0.01167	T	0.099	0.28413	0.536	0.64585	0.149567049428	0.14543	0.32164779350983813	0.32077	0.066022613777	0.07365	0.213868185878	0.00987	T	0.002805	0.02196	T	-0.181055	0.23578	T	-0.49785	0.22571	T	0.00374376377463194	0.00040	T	0.242976	0.05020	T	0.03805676	0.04996	0.03860824	0.03767	0.03805676	0.04996	0.03860824	0.03767	-0.686	0.01569	T	.	.	0.157	0.42678	B	.;.;.	.;.;.	-1.027763	0.00732	0.022	0.082392823127223083	0.00061	0.00186	0.01083	N	AEFDGBI	0.019948	0.00741	N	-2.1408184491181	0.00104	0.004452357	-2.2138367864308	0.00104	0.004581189	0.998039345530398	0.36340	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	2.74	-5.47	0.02396	-0.923000	0.04109	-7.847000	0.01075	-0.595000	0.04637	0.000000	0.06391	0.000000	0.08366	0.065000	0.16320	0.0968:0.231:0.1463:0.5259	3.145	0.06079	946	0.12043	Palmitoyltransferase, DHHC domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.09524	1920.92	353	chr5	840546	.	A	G	1920.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-1.560e-01;DP=2431;ExcessHet=0.6776;FS=5.180;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=58.12;MQRankSum=-1.789e+01;QD=1.22;ReadPosRankSum=-1.968e+00;SOR=1.411	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485	17	0	4	0
chr5	1037960	1037960	C	T	exonic	NKD2	.	nonsynonymous SNV	NKD2:NM_033120:exon10:c.C943T:p.R315W,	.	.	425	1060	35	2	0	39	0.0180639	.	.	709550	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	N	1.87	L	0.77	T	-0.891	T	0.164	T	0.333	1.148	9.677	-0.100	0.068	-0.438	9.954	0.115	.	0.0083	0.00379393	0.0091	0.0024	0.0054	0.0001	0.0018	0.0135	0.0099	0.0051	0.0073673	1139	154602	rs35433301	0.0096	0.0095	0.0095	0.0096	0.0332	0.0094	0.0094	0.0293	0.0278	0.0023	0.0049	0.0433	0.0001	0.0015	0.0332	0.0100	0.0118	0.0041	0.0076	0.0076	0.0076	0.0076	0.0101	0.0073	0.0071	0.0094	0.0092	0.0019	0.0274	0.0086	0.0472	0.0002	0.0022	0.0238	0.0101	0.0095	0.0050	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.998	0.88582	D	0.000030	0.55875	D	0.000000	0.999908	0.19694	N	2.135	0.59519	M	0.77	0.49642	T	-4.62	0.79143	D	0.469	0.50508	-0.8906	0.48881	T	0.164	0.50160	T	10	0.006133914	0.00138	T	.	.	.	0.115	0.32236	.	.	0.457377140028	0.45363	0.2829412715231285	0.28207	0.300538019554	0.32405	0.621095120907	0.55884	T	0.543633	0.84418	D	-0.456211	0.01037	T	-0.42013	0.31060	T	0.0627240683940684	0.07590	T	0.747625	0.36808	T	0.310553	0.53834	0.1938994	0.42984	0.310553	0.53834	0.1938994	0.42983	-5.409	0.41006	T	.	.	0.143	0.31381	B	.	.	2.911736	0.38627	20.8	0.99506249474795516	0.68322	0.08312	0.14257	N	AEFBCI	0.112808	0.22283	N	-0.557253112866003	0.20257	1.066543	-0.81538513277936	0.14123	0.7363064	0.0651303777871885	0.15351	0.653496	0.48692	0	0.588066	0.40923	0	0.596874	0.31795	0	0.562822	0.20929	0	.	.	3.73	-0.0997	0.12960	-0.051000	0.11840	0.646000	0.20366	-0.252000	0.07121	0.000000	0.06391	0.156000	0.23222	0.006000	0.07323	0.5464:0.4536:0.0:0.0	9.954	0.40823	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	4171.68	35	chr5	1037960	.	C	T	4171.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.517;DP=932;ExcessHet=0.3300;FS=3.783;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.77;ReadPosRankSum=0.385;SOR=0.911	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,998	18	0	3	0
chr5	1037973	1037973	C	T	exonic	NKD2	.	nonsynonymous SNV	NKD2:NM_033120:exon10:c.C956T:p.T319M,	.	.	426	1076	20	0	0	20	0.0092081	.	.	2820347	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.19	T	0.005	B	0.0	B	0.156	N	1.000	N	-0.345	N	0.95	T	-1.046	T	0.030	T	0.086	-0.732	0.872	-7.03	-1.763	-0.679	6.048	0.016	.	0.0039	0.00319489	0.0050	0.0013	0.0038	0.0001	0.0044	0.0061	0.0034	0.0061	0.0041397	640	154602	rs185789971	0.0060	0.0060	0.0060	0.0060	0.0143	0.0059	0.0058	0.0118	0.0108	0.0012	0.0029	0.0045	2.53e-05	0.0036	0.0143	0.0066	0.0054	0.0055	0.0040	0.0040	0.0044	0.0036	0.0061	0.0037	0.0036	0.0056	0.0054	0.0014	0	0.0033	0.0049	0	0.0029	0.0103	0.0061	0.0043	0.0058	0.188	0.21304	T	0.229	0.25210	T	0.005	0.12996	B	0.0	0.01387	B	0.155611	0.02998	N	2.011550	1	0.08975	N	-0.695	0.01866	N	0.95	0.43279	T	0.47	0.03090	N	0.09	0.06854	-1.0464	0.15418	T	0.030	0.13111	T	10	0.0040747225	0.00080	T	.	.	.	0.016	0.02506	.	.	0.0920862733494	0.08535	0.08148479458835803	0.08083	0.0430301591875	0.04638	0.470398753881	0.34735	T	0.10385	0.41288	T	-0.672273	0.00053	T	-0.734305	0.04135	T	0.00115115326246585	0.00011	T	0.168783	0.01571	T	0.013951637	0.00075	0.032009598	0.01872	0.013951637	0.00075	0.032009598	0.01871	-5.449	0.41388	T	.	.	0.059	0.00861	B	.	.	-0.300285	0.02615	0.327	0.86537736169544699	0.16603	0.02210	0.06441	N	AEFBCI	0.047936	0.08126	N	-1.71657489953935	0.00784	0.03389608	-1.80186283245875	0.00753	0.03357648	0.991844927304227	0.32628	0.653496	0.48692	0	0.588066	0.40923	0	0.596874	0.31795	0	0.562822	0.20929	0	.	.	3.52	-7.03	0.01428	-0.964000	0.03943	-1.457000	0.05396	-0.254000	0.07082	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4569:0.3029:0.2402	6.048	0.18997	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	678.98	79	chr5	1037973	.	C	T	678.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.750e-01;DP=824;ExcessHet=0.0000;FS=1.871;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.59;ReadPosRankSum=-4.820e-01;SOR=0.814	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,998	20	0	1	0
chr5	1038305	1038305	C	T	exonic	NKD2	.	nonsynonymous SNV	NKD2:NM_033120:exon10:c.C1288T:p.R430W,	.	.	440	1078	3	0	1	4	0.00138953	.	.	3362195	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	U	1.000	N	0.55	N	0.26	T	-0.818	T	0.200	T	0.471	1.724	11.72	-0.942	-0.356	0.168	10.155	0.064	0.0417665895515	.	0.000199681	0.0004	0	0	0	0	0	0	0.0011	7.12e-05	11	154602	rs550078185	0.0001	0.0001	0.0001	0.0002	0.0009	0.0001	0.0001	0.0007	0.0007	6.232e-05	8.157e-05	0	2.741e-05	0	0.0004	8.395e-05	0.0002	0.0009	0.0001	0.0001	0.0001	0.0001	0.0015	6.509e-05	5.321e-05	0.0007	0.0005	0	0	0.0002	0	0	0	0	8.823e-05	0	0.0015	0.043	0.41364	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000005	0.62929	U	0.000000	0.998365	0.81001	D	2.085	0.57729	M	0.26	0.59314	T	-4.65	0.79399	D	0.298	0.33687	-0.8179	0.54065	T	0.200	0.55625	T	10	0.06571761	0.08907	T	0.041767	0.60104	D	0.256	0.56694	0.37	0.38013	0.651212884413	0.64831	0.42757223575471176	0.42674	0.300067500273	0.32371	0.587402582169	0.51128	T	0.538501	0.84155	D	-0.34805	0.04851	T	-0.308105	0.43861	T	0.512789070606232	0.33100	D	0.538446	0.18153	T	0.17342444	0.38090	0.12964079	0.31166	0.17342444	0.38090	0.12964079	0.31165	-11.405	0.81832	D	.	.	0.317	0.54309	B	.	.	3.184585	0.43240	21.7	0.99708233406217994	0.81143	0.42382	0.26865	N	AEFGBI	0.281190	0.39483	N	-0.352948940419374	0.27163	1.488173	-0.499674856150576	0.22163	1.202453	0.227744558569149	0.18430	0.700653	0.57754	0	0.588066	0.40923	0	0.717052	0.78885	0	0.567892	0.33627	0	.	.	3.59	-0.942	0.09869	-0.033000	0.12196	0.716000	0.20974	-0.223000	0.07921	0.918000	0.31901	0.983000	0.30585	0.749000	0.35751	0.7758:0.2242:0.0:0.0	10.155	0.41991	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1029.98	49	chr5	1038305	.	C	T	1029.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=838;ExcessHet=0.0000;FS=1.811;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.72;ReadPosRankSum=1.20;SOR=0.586	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,998	20	0	1	0
chr5	1073770	1073770	C	T	exonic	SLC12A7	.	nonsynonymous SNV	SLC12A7:NM_006598:exon17:c.G2104A:p.A702T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.019	B	0.001	B	0.092	N	1.000	N	0.95	L	-1.86	D	-1.018	T	0.054	T	0.048	0.764	8.043	0.125	0.230	-0.736	2.160	0.014	0.0105773570123	.	.	7.717e-05	0.0001	0	0	0	1.579e-05	0	0.0004	5.82e-05	9	154602	rs748476541	3.614e-05	4.72e-05	1.639e-05	5.631e-05	0.0005	2.799e-05	2.475e-05	0.0004	0.0004	0	0	0	2.999e-05	0	0.0004	7.668e-06	1.869e-05	0.0005	4.598e-05	4.596e-05	3.853e-05	5.379e-05	0.0006	2.109e-05	1.526e-05	0.0002	8.981e-05	7.235e-05	0	0	0	0	0	0	1.47e-05	0	0.0006	0.258	0.16683	T	0.626	0.07292	T	0.019	0.17989	B	0.001	0.04355	B	0.092393	0.20277	N	0.508719	1	0.08975	N	1.04	0.26193	L	-1.86	0.84341	D	-0.51	0.15986	N	0.145	0.14622	-1.0175	0.24528	T	0.054	0.22997	T	10	0.026814789	0.00840	T	0.010577	0.27281	T	0.057	0.16321	0.313	0.28774	0.674760430698	0.67200	0.17233955250693006	0.17153	0.299493112566	0.32315	0.580085635185	0.50099	T	0.149405	0.48840	T	-0.458034	0.01011	T	-0.56156	0.16230	T	0.0186764984963503	0.00580	T	0.373163	0.08852	T	0.04965257	0.08849	0.030092806	0.01422	0.04965257	0.08849	0.030092806	0.01422	-3.783	0.20551	T	.	.	0.067	0.02399	B	.	.	0.465283	0.08349	5.100	0.97108027307929357	0.32396	0.03968	0.09377	N	AEFDGBI	0.052119	0.09273	N	-0.819636850065578	0.12809	0.6267858	-0.935505210025329	0.11260	0.5725556	0.00279500412814813	0.09712	0.839682	0.99964	0	0.633656	0.55848	0	0.736553	0.94036	0	0.635551	0.53088	0	.	.	4.04	0.125	0.14020	-1.064000	0.03572	-6.372000	0.01417	-0.985000	0.01878	0.000000	0.06391	0.000000	0.08366	0.075000	0.16954	0.4595:0.2971:0.133:0.1104	2.160	0.03590	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1239.98	33	chr5	1073770	.	C	T	1239.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.82;DP=868;ExcessHet=0.0000;FS=1.719;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=-1.161e+00;SOR=0.470	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr5	1083865	1083865	C	T	exonic	SLC12A7	.	nonsynonymous SNV	SLC12A7:NM_006598:exon8:c.G1009A:p.A337T,	.	.	424	1084	14	0	0	14	0.00641613	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.003	B	0.001	B	0.989	N	1.000	N	1.245	L	-0.02	T	-1.003	T	0.138	T	0.037	0.198	5.069	1.63	0.657	-0.070	3.329	0.040	0.0120447086386	0.0004	0.000599042	0.0005	0.0003	0.0002	0	0	0.0005	0	0.0015	0.0004075	63	154602	rs140054338	0.0004	0.0004	0.0003	0.0004	0.0028	0.0003	0.0003	0.0018	0.0014	0.0001	0.0005	0.0044	2.526e-05	0	0.0028	0.0002	0.0009	0.0014	0.0004	0.0004	0.0004	0.0004	0.0008	0.0003	0.0003	0.0005	0.0004	0.0001	0	0.0008	0.0058	0	0	0.0034	0.0002	0.0019	0.0006	0.575	0.06086	T	0.572	0.08746	T	0.003	0.11197	B	0.001	0.04355	B	0.989428	0.08040	N	0.995188	1	0.08975	N	0.895	0.22405	L	-0.02	0.62918	T	-0.37	0.13226	N	0.099	0.08088	-1.0027	0.29139	T	0.138	0.45508	T	10	0.009790659	0.00220	T	0.012045	0.30251	T	0.040	0.10527	.	.	0.381916209588	0.37799	0.7172251238862917	0.71665	0.299493112566	0.32315	0.50070476532	0.38926	T	0.104547	0.41421	T	-0.600419	0.00145	T	-0.680788	0.06936	T	0.00439147579536579	0.00047	T	0.0336966	0.00222	T	0.02900809	0.02327	0.040754575	0.04476	0.02900809	0.02326	0.040754575	0.04476	-4.967	0.36479	T	.	.	0.074	0.05274	B	.	.	0.608214	0.09765	6.533	0.81511094854553279	0.13721	0.02140	0.06305	N	AEFGBI	0.041504	0.06318	N	-1.15469746675839	0.05703	0.2606895	-1.1844235802697	0.06169	0.2961284	0.902212495718761	0.26121	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.67	1.63	0.22882	-0.121000	0.10618	-13.249000	0.00470	-0.970000	0.01946	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.459:0.2063:0.3346	3.329	0.06661	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2295.11	33	chr5	1083865	.	C	T	2295.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.06;DP=875;ExcessHet=0.1072;FS=1.104;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.83;ReadPosRankSum=-2.350e-01;SOR=0.612	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1327	19	0	2	0
chr5	1085296	1085296	C	T	exonic	SLC12A7	.	nonsynonymous SNV	SLC12A7:NM_006598:exon7:c.G853A:p.V285M,	.	.	419	1101	2	0	0	2	0.000907441	.	.	3477112	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.846	P	0.768	P	0.001	N	0.986	D	1.165	L	-5.32	D	0.830	D	0.917	D	0.192	3.172	16.61	2.08	1.566	3.310	3.328	0.541	0.944129005856	.	.	0.0001	0	9.019e-05	0.0001	0	7.989e-05	0	0.0004	8.41e-05	13	154602	rs747293398	4.657e-05	4.788e-05	3.679e-05	5.645e-05	0.0010	3.732e-05	3.415e-05	0.0005	0.0003	0	4.477e-05	0	2.521e-05	0	0.0010	1.889e-05	6.626e-05	0.0004	2.628e-05	2.627e-05	1.284e-05	4.034e-05	0.0004	8.14e-06	5.14e-06	7.293e-05	3.03e-05	0	0	0	0	0	0	0	2.939e-05	0	0.0004	0.001	0.78490	D	0.053	0.47336	T	0.846	0.46778	P	0.768	0.56752	P	0.001125	0.40136	N	0.208085	0.985976	0.40362	D	1.295	0.32453	L	-5.32	0.98988	D	-1.97	0.45587	N	0.337	0.37820	0.830	0.94784	D	0.917	0.97264	D	10	0.55867946	0.64664	D	0.944129	0.99608	D	0.541	0.80842	.	.	0.740130705384	0.73780	0.7483029196823969	0.74776	0.962890128784	0.73069	0.816245436668	0.84452	D	0.641902	0.89029	D	-0.111731	0.34484	T	-0.0877514	0.64331	T	0.228951871395111	0.21901	T	0.975436	0.91320	D	0.18993297	0.40556	0.22167252	0.46986	0.18993297	0.40556	0.22167252	0.46985	-9.357	0.69965	D	.	.	0.145	0.31906	B	.	.	4.049971	0.60023	24.2	0.99879866768067938	0.95653	0.42887	0.26977	N	AEFGBI	0.106355	0.21223	N	0.180772214695227	0.50278	3.219224	0.140656824565054	0.46649	2.907496	0.989901975119698	0.31972	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.31	2.08	0.26079	2.770000	0.47346	-6.026000	0.01519	0.597000	0.34315	0.996000	0.39380	0.000000	0.08366	0.871000	0.41478	0.0:0.5243:0.0:0.4757	3.328	0.06660	976	0.04745	Amino acid permease/ SLC12A domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1446.98	34	chr5	1085296	.	C	T	1446.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.218e+00;DP=859;ExcessHet=0.0000;FS=6.026;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.58;ReadPosRankSum=-9.940e-01;SOR=1.147	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1101	20	0	1	0
chr5	1210503	1210503	T	G	exonic	SLC6A19	.	nonsynonymous SNV	SLC6A19:NM_001003841:exon3:c.T403G:p.W135G,	Hartnup disorder, Autosomal recessive;Hyperglycinuria, Autosomal dominant;Iminoglycinuria, digenic, Autosomal recessive, Digenic recessive	.	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.99	D	0.000	D	1.000	D	3.865	H	-1.43	T	0.785	D	0.764	D	0.843	2.889	15.63	4.13	1.642	4.908	13.445	0.770	0.444267094548	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1292124668	6.159e-06	6.156e-06	6.809e-06	5.503e-06	7.194e-06	2.9e-06	2.1e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	1.656e-05	0	6.569e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.0	0.92824	D	0.999	0.77913	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	0.999994	0.58761	D	4.875	0.99749	H	-1.43	0.80730	T	-12.03	0.99635	D	0.797	0.79310	0.785	0.94230	D	0.764	0.91981	D	10	0.9823771	0.98314	D	0.444267	0.94223	D	0.770	0.92253	0.83	0.93978	0.908206165211	0.90729	0.9216210694403587	0.92138	1.01568644223	0.74939	0.69039028883	0.65762	T	0.800598	0.94911	D	0.378143	0.88590	D	0.305	0.88446	D	0.999729812145233	0.98678	D	0.924807	0.72410	D	0.97508633	0.98714	0.95999336	0.98971	0.97508633	0.98714	0.95999336	0.98972	-16.079	0.97877	D	0.8782388216067427	0.93681	0.579	0.67990	P	.	.	4.661671	0.74412	26.2	0.97220022090961211	0.32896	0.92448	0.55735	D	AEFDGBHCI	0.810570	0.73378	D	0.655025948857499	0.76696	6.534163	0.487875945987827	0.67187	5.050357	0.999999999838303	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.13	4.13	0.47661	6.034000	0.70575	4.666000	0.44258	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.849000	0.40138	0.0:0.0:0.0:1.0	13.445	0.60589	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1654.98	35	chr5	1210503	.	T	G	1654.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.309e+00;DP=857;ExcessHet=0.0000;FS=3.721;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=0.475;SOR=0.937	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1316	20	0	1	0
chr5	1216868	1216868	C	T	exonic	SLC6A19	.	nonsynonymous SNV	SLC6A19:NM_001003841:exon8:c.C1096T:p.R366W,	Hartnup disorder, Autosomal recessive;Hyperglycinuria, Autosomal dominant;Iminoglycinuria, digenic, Autosomal recessive, Digenic recessive	.	0	1520	2	0	0	2	0.000657462	.	.	2021948	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.24	T	0.0	B	0.002	B	0.708	N	1.000	N	-1.01	N	-0.85	T	-0.973	T	0.141	T	0.135	-0.275	2.682	3.58	0.690	0.137	7.215	0.119	0.072145016178	7.7e-05	.	1.652e-05	9.628e-05	0	0	0	1.505e-05	0	0	1.29e-05	2	154602	rs371553611	3.011e-05	3.01e-05	3.404e-05	2.614e-05	8.961e-05	2.282e-05	2.033e-05	2.455e-05	2.143e-05	8.961e-05	2.236e-05	0	2.519e-05	0	0	3.327e-05	3.312e-05	0	3.284e-05	3.283e-05	2.568e-05	4.033e-05	7.234e-05	1.26e-05	7.98e-06	1.918e-05	1.032e-05	7.234e-05	0	0	0	0	0	0	2.939e-05	0	0	0.226	0.18562	T	0.194	0.28120	T	0.0	0.02946	B	0.002	0.06944	B	0.707702	0.06240	N	1.119860	1	0.08975	N	-1	0.01172	N	-0.85	0.74371	T	1.04	0.01332	N	0.212	0.23632	-0.9734	0.36474	T	0.141	0.46016	T	10	0.12520134	0.23789	T	0.072145	0.71454	D	0.119	0.33137	.	.	0.295974979623	0.29207	0.46599499180527054	0.46518	0.210598802773	0.23551	0.298747777939	0.10214	T	0.072603	0.34494	T	-0.332203	0.05946	T	-0.533435	0.18944	T	0.0510780614880742	0.05689	T	0.378362	0.09086	T	0.17095008	0.37701	0.05543475	0.09722	0.17095008	0.37700	0.05543475	0.09721	-8.299	0.63089	D	.	.	0.057	0.00533	B	.	.	1.275947	0.16750	12.74	0.57214529390518343	0.05720	0.00777	0.03195	N	AEFGBI	0.150316	0.27458	N	-1.30132610538646	0.03660	0.1639041	-1.21143796625086	0.05725	0.2736108	0.994297367744793	0.33572	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.85	3.58	0.40133	0.166000	0.16400	0.784000	0.21507	-0.982000	0.01892	0.000000	0.06391	0.003000	0.18671	0.000000	0.00833	0.0:0.1994:0.0:0.8006	7.215	0.25131	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2736.98	46	chr5	1216868	.	C	T	2736.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=1260;ExcessHet=0.0000;FS=2.299;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=0.019;SOR=0.879	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1530	20	0	1	0
chr5	1219618	1219618	G	A	exonic	SLC6A19	.	nonsynonymous SNV	SLC6A19:NM_001003841:exon10:c.G1492A:p.A498T,	Hartnup disorder, Autosomal recessive;Hyperglycinuria, Autosomal dominant;Iminoglycinuria, digenic, Autosomal recessive, Digenic recessive	.	.	.	.	.	.	.	.	.	.	1497764	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.987	D	0.73	P	0.000	D	1.000	D	2.795	M	-1.03	T	0.374	D	0.591	D	0.523	4.309	22.6	4.83	2.221	9.590	17.902	0.619	0.319502544955	.	.	1.658e-05	0	0	0.0001	0	1.513e-05	0	0	1.29e-05	2	154602	rs768027310	2.196e-05	2.463e-05	2.322e-05	2.068e-05	0.0005	1.589e-05	1.36e-05	0.0001	7.541e-05	2.987e-05	0	0	0.0002	0	0.0005	1.799e-05	1.657e-05	0	1.314e-05	1.313e-05	2.57e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	0.003	0.68238	D	0.006	0.70582	D	0.987	0.61912	D	0.73	0.55268	P	0.000038	0.55875	D	0.156215	0.999999	0.58761	D	2.94	0.84723	M	-1.03	0.76430	T	-3.25	0.65283	D	0.632	0.64563	0.374	0.88704	D	0.591	0.85386	D	10	0.803235	0.79696	D	0.319503	0.91431	D	0.619	0.85196	0.59	0.71874	0.817938731251	0.81622	0.7926223500639376	0.79215	0.752232820691	0.63832	0.608774781227	0.54143	T	0.478554	0.80832	T	-0.103341	0.35872	T	-0.0940698	0.63853	T	0.937600314617157	0.60751	D	0.965203	0.87125	D	0.68819857	0.77414	0.6781067	0.81092	0.68819857	0.77415	0.6781067	0.81093	-9.326	0.69770	D	0.34255454008449604	0.44022	0.566	0.67484	P	.	.	5.116896	0.85570	28.6	0.99878811461485728	0.95572	0.98722	0.86019	D	AEFBI	0.946808	0.95666	D	0.641284231116063	0.75806	6.371489	0.551821057242069	0.71524	5.667985	0.999999999999976	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.83	4.83	0.61880	9.722000	0.98003	9.806000	0.81721	0.606000	0.46413	1.000000	0.71638	1.000000	0.68203	0.876000	0.41813	0.0:0.0:1.0:0.0	17.902	0.88826	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1049.98	45	chr5	1219618	.	G	A	1049.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.990e-01;DP=806;ExcessHet=0.0000;FS=4.440;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.64;ReadPosRankSum=1.00;SOR=0.352	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1229	20	0	1	0
chr5	1221218	1221218	G	A	exonic	SLC6A19	.	nonsynonymous SNV	SLC6A19:NM_001003841:exon11:c.G1606A:p.V536M,	Hartnup disorder, Autosomal recessive;Hyperglycinuria, Autosomal dominant;Iminoglycinuria, digenic, Autosomal recessive, Digenic recessive	.	1	1516	5	0	0	5	0.00164636	.	.	984670	Neutral_1_amino_acid_transport_defect|not_provided	MONDO:MONDO:0009324,MedGen:C0018609,OMIM:234500,Orphanet:2116|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.988	D	0.816	P	0.001	D	0.876	D	3.105	M	-0.93	T	0.425	D	0.579	D	0.318	1.471	10.86	2.98	0.432	1.185	15.6	0.419	0.112026900132	0.0004	0.000798722	0.0003	0.0009	0.0004	0	0.0002	0.0002	0	0.0002	0.0002393	37	154602	rs145250153	0.0001	0.0001	0.0001	0.0001	0.0035	0.0001	0.0001	0.0023	0.0019	0.0006	0.0003	3.826e-05	2.519e-05	5.618e-05	0.0035	8.363e-05	0.0002	0.0002	0.0003	0.0003	0.0004	0.0003	0.0008	0.0003	0.0002	0.0006	0.0005	0.0008	0	0.0002	0	0.0002	0	0.0034	0.0002	0.0009	0.0004	0.143	0.25355	T	0.05	0.48080	T	0.988	0.62325	D	0.816	0.58888	P	0.000796	0.41772	D	0.197004	0.875544	0.35647	D	3.435	0.92070	M	-0.93	0.75215	T	-1.06	0.27669	N	0.35	0.39153	0.425	0.89465	D	0.579	0.84840	D	10	0.13770604	0.26194	T	0.112027	0.79002	D	0.419	0.72855	.	.	0.653542758682	0.65065	0.7271567388570918	0.72659	0.674123437688	0.59625	0.331592530012	0.15175	T	0.310985	0.68290	T	-0.30294	0.08386	T	-0.284633	0.46328	T	0.062564495471079	0.07567	T	0.971803	0.89778	D	0.30336052	0.53204	0.26478866	0.52303	0.30336052	0.53204	0.26478866	0.52302	-9.136	0.68568	D	0.6552753228967908	0.72798	0.141	0.31023	B	.	.	3.263963	0.44646	22.0	0.99633316047666143	0.76203	0.81657	0.41017	D	AEFGBI	0.375907	0.46026	N	0.263913042730704	0.54332	3.598887	0.111475274824766	0.45135	2.782076	0.99251740830081	0.32867	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.81	2.98	0.33575	0.724000	0.25624	5.701000	0.49379	-0.171000	0.11205	0.891000	0.31220	1.000000	0.68203	0.006000	0.07323	0.0:0.3891:0.6109:0.0	15.6	0.76362	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3458.11	33	chr5	1221218	.	G	A	3458.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.12;DP=1029;ExcessHet=0.1072;FS=3.310;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=2.07;SOR=0.795	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	19	0	2	0
chr5	1221252	1221254	TCT	-	exonic	SLC6A19	.	nonframeshift deletion	SLC6A19:NM_001003841:exon11:c.1640_1642del:p.F550del,	Hartnup disorder, Autosomal recessive;Hyperglycinuria, Autosomal dominant;Iminoglycinuria, digenic, Autosomal recessive, Digenic recessive	.	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.123e-05	0.0002	0	0	0	1.511e-05	0.0011	0.0004	6.5e-06	1	154602	rs760474536	5.541e-05	5.541e-05	4.22e-05	6.875e-05	0.0003	4.543e-05	4.155e-05	0.0002	0.0002	2.987e-05	4.473e-05	0	0	0	0.0003	3.777e-05	8.279e-05	0.0003	8.536e-05	8.53e-05	0.0001	4.029e-05	0.0002	4.954e-05	3.96e-05	9.544e-05	6.947e-05	0.0002	0	0	0	0	0	0	4.41e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2753.94	33	chr5	1221251	.	CTCT	C	2753.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.81;DP=938;ExcessHet=0.0000;FS=7.574;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.39;ReadPosRankSum=2.31;SOR=1.321	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr5	1294282	1294282	C	T	exonic	TERT	.	nonsynonymous SNV	TERT:NM_001193376:exon2:c.G604A:p.A202T	.	.	0	1514	8	0	0	8	0.00263505	.	.	27768	not_specified|Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_1|TERT-related_disorder|Dyskeratosis_congenita|Dyskeratosis_congenita,_autosomal_dominant_2|Idiopathic_Pulmonary_Fibrosis|not_provided|Aplastic_anemia	MedGen:CN169374|MONDO:MONDO:0013878,MedGen:C3553617,OMIM:614742,Orphanet:88|.|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775|MONDO:MONDO:0013521,MedGen:C3151443,OMIM:613989|MeSH:D054990,MedGen:C1800706|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135,Orphanet:182040,Orphanet:88	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.62	T	0.277	B	0.154	B	0.000	N	1.000	N	0	N	-3.96	D	0.105	D	0.671	D	0.66	1.123	9.579	0.896	0.313	-0.127	3.154	0.549	0.121653376767	0.0002	0.000199681	0.0003	0.0006	0.0020	0	0	0.0002	0	0	0.0001876	29	154602	rs121918661	0.0001	0.0002	0.0001	0.0002	0.0059	0.0001	0.0001	0.0044	0.0038	0.0003	0.0009	0.0003	0	0	0.0059	5.864e-05	0.0007	0.0002	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	0.0001	0.0003	0.0002	9.617e-05	0	0.0005	0	0	0	0.0103	0.0002	0	0.0004	0.556	0.06461	T	0.615	0.07568	T	0.182	0.31978	B	0.074	0.34351	B	0.000001	0.00162	N	10.840000	1	0.08975	N	0	0.06538	N	-4.05	0.96496	D	0.23	0.04613	N	0.497	0.53006	0.105	0.84258	D	0.671	0.88598	D	10	0.01952967	0.00437	T	0.121653	0.80246	D	0.549	0.81310	.	.	0.984026434131	0.98385	0.7070260341131108	0.70644	1.00927309204	0.74700	0.624305009842	0.56337	T	0.309758	0.68176	T	-0.13286	0.31032	T	-0.0377342	0.67854	D	0.00706015160306881	0.00080	T	0.528747	0.17479	T	0.04688395	0.07921	0.05480215	0.09493	0.04297317	0.06616	0.0626218	0.12280	-4.341	0.28748	T	0.1458833443905361	0.16783	0.075	0.12797	B	.;.	.;.	0.216213	0.05992	2.432	0.97283983038489508	0.33195	0.04223	0.09740	N	AEFDBCI	0.052098	0.09267	N	-1.15232331376474	0.05742	0.2625607	-1.21948073743397	0.05597	0.2671362	0.999616111389078	0.40981	0.652421	0.48094	0	0.541556	0.11502	0	0.64067	0.45733	0	0.562822	0.20929	0	.	.	1.83	0.896	0.18385	-1.972000	0.01592	-1.153000	0.06175	-1.150000	0.01427	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2579:0.5683:0.0:0.1738	3.154	0.06109	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1579.98	39	chr5	1294282	.	C	T	1579.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.618e+00;DP=897;ExcessHet=0.0000;FS=1.449;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.17;ReadPosRankSum=0.804;SOR=0.874	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1160	20	0	1	0
chr5	2749704	2749704	C	G	exonic	IRX2	.	nonsynonymous SNV	IRX2:NM_001134222:exon2:c.G333C:p.Q111H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.997	D	0.95	D	0.000	D	1.000	D	1.995	M	-0.22	T	-0.338	T	0.384	T	0.657	2.454	14.17	3.95	0.974	0.841	8.775	0.282	0.0439001546422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.038	0.51421	D	0.997	0.70673	D	0.95	0.68788	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.2	0.62015	M	-0.3	0.67874	T	-2.99	0.62151	D	0.826	0.95374	-0.3383	0.73893	T	0.384	0.74010	T	10	0.7670542	0.76786	D	0.044	0.61216	D	0.282	0.59981	0.348	0.34436	0.789219341485	0.78727	0.8151916020486122	0.81475	2.56847412068	0.98003	0.801670312881	0.82218	T	0.437744	0.78365	T	0.0917855	0.63389	D	-0.105933	0.62934	T	0.975854218006134	0.71118	D	0.868913	0.57225	D	0.413645	0.61666	0.23726499	0.49019	0.413645	0.61667	0.23726499	0.49018	-10.999	0.79653	D	.	.	0.504	0.64835	A	.;.	.;.	4.016829	0.59304	24.1	0.99405502220932718	0.63028	0.78751	0.38901	D	ALL	0.483247	0.52377	N	0.43701717578164	0.63470	4.581412	0.380756334460075	0.60380	4.22482	0.999999487030143	0.74766	0.733237	0.96898	0	0.573888	0.26702	0	0.600757	0.32118	0	0.63947	0.58350	0	.	.	4.85	3.95	0.44952	0.886000	0.27878	1.396000	0.26156	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8206:0.0:0.1794	8.775	0.33912	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1921.98	34	chr5	2749704	.	C	G	1921.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.540e-01;DP=920;ExcessHet=0.0000;FS=5.847;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.39;ReadPosRankSum=-9.350e-01;SOR=1.123	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1132	20	0	1	0
chr5	7802241	7802241	C	G	exonic	ADCY2	.	nonsynonymous SNV	ADCY2:NM_020546:exon21:c.C2652G:p.D884E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.002	B	0.017	B	0.000	N	0.818	D	0.16	N	-1.49	T	-0.923	T	0.205	T	0.137	0.871	8.531	1.23	-0.074	0.309	7.217	0.235	0.0213026087819	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.09291	T	0.639	0.06992	T	0.001	0.07471	B	0.01	0.14941	B	0.000126	0.49741	N	0.171365	0.579165	0.34735	D	0.475	0.13142	N	-1.49	0.81235	T	-1.75	0.41428	N	0.152	0.15609	-0.9227	0.45182	T	0.205	0.56362	T	10	0.17686766	0.32692	T	0.021303	0.44047	T	0.235	0.53788	0.568	0.69034	0.58691828604	0.58366	0.8238682626487709	0.82343	1.27695066836	0.82430	0.617125332355	0.55322	T	0.338812	0.70804	T	-0.11883	0.33316	T	-0.408468	0.32402	T	0.511260449886322	0.33044	D	0.715328	0.32778	T	0.058896944	0.11905	0.061727434	0.11965	0.058896944	0.11904	0.061727434	0.11964	-2.252	0.04300	T	.	.	0.093	0.14201	B	.	.	1.506295	0.19358	14.22	0.94609705565612956	0.25178	0.84526	0.43608	D	AEFBI	0.225295	0.34940	N	-0.674830025897799	0.16740	0.8555798	-0.504235882927044	0.22037	1.195033	0.993558463280871	0.33262	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.24	1.23	0.20358	0.172000	0.16518	-0.137000	0.11557	0.549000	0.26987	0.973000	0.34540	0.401000	0.24711	0.986000	0.61781	0.2412:0.626:0.0:0.1328	7.217	0.25141	923	0.18507	Adenylyl cyclase class-3/4/guanylyl cyclase|Adenylyl cyclase class-3/4/guanylyl cyclase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1189.98	34	chr5	7802241	.	C	G	1189.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.510e-01;DP=778;ExcessHet=0.0000;FS=3.031;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.87;ReadPosRankSum=1.10;SOR=1.051	GT:AD:DP:GQ:PL	0/1:30,50:80:99:1204,0,667	20	0	1	0
chr5	7862999	7862999	-	A	splicing	FASTKD3	NM_024091:exon4:c.1525-2->T	.	.	.	.	430	1067	24	1	0	26	0.012037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0070	0.00219649	0.0050	0.0019	0.0027	0	0.0011	0.0066	0.0066	0.0059	0.000207	32	154602	rs546325772	0.0072	0.0072	0.0072	0.0071	0.0116	0.0071	0.0070	0.0094	0.0086	0.0013	0.0029	0.0020	0	0.0027	0.0116	0.0082	0.0069	0.0066	0.0047	0.0047	0.0048	0.0046	0.0075	0.0044	0.0043	0.0070	0.0068	0.0013	0	0.0037	0.0020	0	0.0035	0.0272	0.0075	0.0076	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1116.07	28	chr5	7862999	.	T	TA	1116.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.47;DP=626;ExcessHet=0.1072;FS=2.799;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=0.438;SOR=1.022	GT:AD:DP:GQ:PL	0/0:29,0:29:81:0,81,1215	19	0	2	0
chr5	9054122	9054122	G	A	exonic	SEMA5A	.	nonsynonymous SNV	SEMA5A:NM_003966:exon19:c.C2654T:p.T885I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.995	D	0.000	D	1.000	D	1	L	0.62	T	-0.737	T	0.221	T	0.803	4.674	25.8	5.59	2.793	9.353	17.449	0.436	0.0275185815176	.	.	.	.	.	.	.	.	.	.	.	.	.	rs976131455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.572e-06	6.566e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.172	0.22660	T	0.052	0.47581	T	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.94	0.23649	L	0.62	0.53302	T	-3.08	0.63323	D	0.896	0.89577	-0.7365	0.58632	T	0.221	0.58459	T	10	0.84380054	0.83540	D	0.027519	0.50320	D	0.436	0.74093	0.493	0.58048	0.787995792498	0.78603	0.4452405969104464	0.44442	1.1161536407	0.78175	0.865262031555	0.91885	D	0.339289	0.70845	T	0.124056	0.66777	D	-0.0595788	0.66362	T	0.980482459068298	0.73384	D	0.827017	0.49049	T	0.29226592	0.52203	0.24130934	0.49526	0.29226592	0.52203	0.24130934	0.49525	-8.063	0.61499	D	.	.	0.633	0.70247	P	.	.	4.866842	0.79695	27.2	0.99881580555215566	0.95733	0.99010	0.89916	D	AEFBI	0.889899	0.82442	D	0.756566811027686	0.83333	7.98988	0.787497486132696	0.88911	9.763551	0.999999999999937	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.59	5.59	0.84677	9.500000	0.96964	11.602000	0.93483	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	17.449	0.87480	833	0.38804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	790.98	34	chr5	9054122	.	G	A	790.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.588e+00;DP=756;ExcessHet=0.0000;FS=1.124;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.92;ReadPosRankSum=0.763;SOR=0.479	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1282	20	0	1	0
chr5	10450015	10450015	C	A	exonic	ROPN1L	.	nonsynonymous SNV	ROPN1L:NM_031916:exon3:c.C319A:p.P107T	.	.	424	1096	2	0	0	2	0.000911577	.	.	2470013	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	1.0	D	1.0	D	0.000	D	1.000	D	2.52	M	2.04	T	-0.846	T	0.156	T	0.818	2.891	15.63	5.07	2.509	6.294	15.735	0.415	0.0174519625133	.	.	8.237e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs754500671	1.095e-05	1.094e-05	1.225e-05	9.628e-06	0.0005	6.48e-06	5.25e-06	0.0001	7.544e-05	0	0	0	0	0	0.0005	5.397e-06	6.624e-05	3.479e-05	6.574e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.004	0.65419	D	0.009	0.66756	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.055461	1	0.81001	D	3.305	0.90531	M	2.04	0.20808	T	-5.0	0.82341	D	0.849	0.84505	-0.8458	0.52256	T	0.156	0.48704	T	10	0.8679031	0.86043	D	0.017452	0.39153	T	0.415	0.72555	0.621	0.75576	0.450152462452	0.44640	0.5169805806104991	0.51621	0.776489147222	0.65059	0.531082510948	0.43187	T	0.173545	0.52245	T	0.0484929	0.58149	T	-0.0674897	0.65805	T	0.956490159034729	0.64768	D	0.753225	0.37546	T	0.49103764	0.66565	0.35589966	0.61109	0.49103764	0.66566	0.35589966	0.61109	-6.222	0.48101	T	.	.	0.546	0.66635	A	.;.	.;.	4.137197	0.61958	24.4	0.99717049602679519	0.81773	0.97779	0.77072	D	AEFDIJ	0.657795	0.62930	D	0.66209094006564	0.77153	6.620265	0.56875668404686	0.72711	5.853277	0.999999999999057	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.514364	0.09456	0	0.567892	0.33627	0	.	.	5.07	5.07	0.68106	6.927000	0.75657	7.561000	0.60481	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.502000	0.29062	0.0:1.0:0.0:0.0	15.735	0.77599	711	0.56613	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	778.98	34	chr5	10450015	.	C	A	778.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.840e-01;DP=758;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-2.240e-01;SOR=0.622	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1146	20	0	1	0
chr5	13717389	13717389	C	T	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon73:c.G12631A:p.E4211K,	Ciliary dyskinesia, primary, 3, with or without situs inversus	YES	.	.	.	.	.	.	.	.	.	300985	Primary_ciliary_dyskinesia|Primary_ciliary_dyskinesia_3	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.000	D	1.000	D	3.925	H	2.77	T	-0.627	T	0.142	T	0.925	5.129	32	4.58	1.301	7.798	13.858	0.436	0.0750671609156	.	.	8.283e-06	0	8.688e-05	0	0	0	0	0	1.94e-05	3	154602	rs762673561	2.189e-05	2.189e-05	2.178e-05	2.2e-05	4.472e-05	1.584e-05	1.356e-05	1.83e-05	1.582e-05	0	4.472e-05	0	2.521e-05	0	0	2.608e-05	0	0	6.575e-06	6.568e-06	0	1.346e-05	6.551e-05	0	0	.	.	0	0	6.551e-05	0	0	0	0	0	0	0	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.000003	0.62929	D	0.101878	1	0.81001	D	3.74	0.94936	H	2.77	0.11407	T	-3.89	0.72820	D	0.926	0.93018	-0.6273	0.63685	T	0.142	0.46367	T	10	0.9391374	0.93241	D	0.075067	0.72198	D	0.436	0.74093	0.801	0.92017	0.761866617869	0.75969	0.8710966450372373	0.87075	0.33534197443	0.35541	0.884870409966	0.94606	D	0.427957	0.77726	T	0.128602	0.67224	D	0.122798	0.78418	D	0.996972441673279	0.90488	D	0.994301	0.98122	D	0.93213123	0.94450	0.8975616	0.94803	0.93213123	0.94451	0.8975616	0.94803	-12.754	0.88324	D	0.6823698243470959	0.75891	0.934	0.85360	P	.	.	4.884074	0.80130	27.3	0.99908412351395515	0.97875	0.98002	0.78783	D	AEFDGI	0.910485	0.86846	D	0.902120392630885	0.91863	11.10466	0.789155649470289	0.89028	9.810334	0.999999774027614	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.45	4.58	0.56077	7.905000	0.86479	7.647000	0.63496	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9268:0.0:0.0732	13.858	0.63035	807	0.43470	Dynein heavy chain domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1772.98	37	chr5	13717389	.	C	T	1772.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.328;DP=855;ExcessHet=0.0000;FS=0.626;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.57;ReadPosRankSum=1.21;SOR=0.768	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1240	20	0	1	0
chr5	13776582	13776582	C	A	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon55:c.G9230T:p.R3077L,	Ciliary dyskinesia, primary, 3, with or without situs inversus	.	1	1517	4	0	0	4	0.00131666	.	.	455368	Primary_ciliary_dyskinesia|not_provided|Primary_ciliary_dyskinesia_3	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900|MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.988	D	0.968	D	0.000	D	1.000	D	2.845	M	0.71	T	-0.233	T	0.373	T	0.913	5.469	35	5.79	2.726	7.684	20.022	0.605	0.104392129228	.	0.000399361	0.0002	0	0	0	0	0.0001	0.0022	0.0009	0.0002135	33	154602	rs113742238	0.0001	0.0001	7.76e-05	0.0002	0.0014	0.0001	0.0001	0.0009	0.0008	2.989e-05	0	0	0	0	0.0014	6.656e-05	0.0002	0.0011	0.0001	0.0001	0.0001	9.403e-05	0.0008	7.089e-05	5.746e-05	0.0003	0.0002	2.407e-05	0	0.0002	0	0	0	0.0034	0.0001	0	0.0008	0.001	0.78490	D	.	.	.	0.988	0.62325	D	0.968	0.71741	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.72	0.94773	H	0.71	0.51228	T	-6.97	0.93544	D	0.908	0.90932	-0.2326	0.76819	T	0.373	0.73167	T	10	0.64469194	0.69257	D	0.104392	0.77895	D	0.605	0.84452	.	.	0.842632066669	0.84112	0.9010516608514801	0.90077	0.325037413155	0.34658	0.669851720333	0.62816	T	0.641229	0.89001	D	-0.00321967	0.51211	T	0.177047	0.81824	D	0.837896227836609	0.49156	D	0.957904	0.84151	D	0.9044249	0.91781	0.924828	0.96735	0.9044249	0.91782	0.924828	0.96736	-12.525	0.87314	D	0.4893990552088194	0.56657	0.531	0.65985	A	.	.	4.171729	0.62732	24.5	0.99856428801667285	0.93548	0.98727	0.86082	D	AEFI	0.879832	0.80605	D	0.93884481928231	0.93528	12.09985	0.906761164549199	0.95860	14.04432	0.999999999999618	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.79	5.79	0.91751	6.081000	0.70951	7.579000	0.60911	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	20.022	0.97507	687	0.59234	Dynein heavy chain, AAA module D4	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1189.98	33	chr5	13776582	.	C	A	1189.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.983;DP=837;ExcessHet=0.0000;FS=1.526;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=-9.000e-01;SOR=0.512	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1259	20	0	1	0
chr5	13862657	13862657	C	T	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon29:c.G4687A:p.G1563S,	Ciliary dyskinesia, primary, 3, with or without situs inversus	.	0	1521	1	0	0	1	0.000328623	.	.	229265	not_specified|Primary_ciliary_dyskinesia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.75	T	0.0	B	0.002	B	0.002	N	0.796	N	-0.68	N	0.24	T	-1.009	T	0.057	T	0.161	0.191	5.028	0.966	-0.116	1.716	8.822	0.038	0.0234755585125	0.0004	.	5.767e-05	0.0005	0	0	0	2.997e-05	0	0	5.17e-05	8	154602	rs147567352	8.141e-05	8.14e-05	7.895e-05	8.388e-05	0.0068	6.935e-05	6.487e-05	0.0051	0.0045	0.0003	2.236e-05	0	2.52e-05	0	0.0068	4.766e-05	0.0002	2.319e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	8.726e-05	0.0002	0.0001	0.0003	0	6.546e-05	0	0	0	0.0034	0.0001	0.0005	0	0.716	0.03972	T	.	.	.	0.0	0.02946	B	0.002	0.06944	B	0.001716	0.38216	N	0.283508	0.796114	0.29169	N	-0.58	0.02282	N	0.24	0.59583	T	0.44	0.03243	N	0.232	0.26111	-1.0086	0.27354	T	0.057	0.23942	T	10	0.037656754	0.02134	T	0.023476	0.46442	T	0.038	0.09825	.	.	0.328222422547	0.32431	0.502698902418257	0.50191	0.47428696601	0.46618	0.302898943424	0.10834	T	0.089	0.38279	T	-0.433589	0.01410	T	-0.503113	0.22025	T	0.0293180822220719	0.01886	T	0.79872	0.44372	T	0.042985447	0.06620	0.065260574	0.13202	0.042985447	0.06619	0.065260574	0.13201	-3.437	0.15559	T	0.07093658895953635	0.02780	0.061	0.01161	B	.	.	1.446857	0.18675	13.86	0.83270078422978444	0.14634	0.80308	0.39980	D	AEFGI	0.281707	0.39521	N	-1.08533447782627	0.06913	0.3195997	-0.946294029932052	0.11009	0.558227	0.0163847638224937	0.12825	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.22	0.966	0.18786	1.763000	0.38090	0.319000	0.17164	-0.172000	0.11096	0.925000	0.32113	0.020000	0.20764	0.654000	0.32802	0.0:0.6529:0.0:0.3471	8.822	0.34191	756	0.51065	Dynein heavy chain, domain-2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0.02381	1093.98	41	chr5	13862657	.	C	T	1093.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.392;DP=814;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.95;ReadPosRankSum=1.15;SOR=0.642	GT:AD:DP:GQ:PL	0/1:60,50:110:99:1108,0,1332	20	0	1	0
chr5	13917246	13917246	T	C	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon8:c.A986G:p.E329G,	Ciliary dyskinesia, primary, 3, with or without situs inversus	YES	0	1521	1	0	0	1	0.000328623	.	.	1828850	not_provided|Primary_ciliary_dyskinesia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.12	T	0.003	B	0.03	B	0.046	N	0.677	D	2.545	M	0.45	T	-0.678	T	0.179	T	0.26	1.831	12.08	5.54	2.107	2.187	7.796	0.205	0.0642683957276	.	.	4.974e-05	0	0	0	0	9.046e-05	0	0	3.88e-05	6	154602	rs483353127	1.574e-05	1.573e-05	1.362e-05	1.788e-05	0.0026	1.048e-05	8.76e-06	0.0016	0.0013	0	4.472e-05	3.827e-05	0	0	0.0026	0	8.283e-05	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	5.291e-05	2.837e-05	0	0	0.0002	0	0	0	0	1.47e-05	0	0	0.113	0.28772	T	.	.	.	0.003	0.11197	B	0.03	0.21741	B	0.046493	0.23434	N	0.469068	0.676849	0.33196	D	3.3	0.90472	M	0.45	0.56446	T	-5.13	0.83224	D	0.455	0.49237	-0.6779	0.61469	T	0.179	0.52504	T	10	0.44156352	0.58133	T	0.064268	0.69226	D	0.205	0.49236	0.561	0.68093	0.685124276654	0.68243	0.4798316727898653	0.47903	0.386324511951	0.39923	0.292774915695	0.09328	T	0.504224	0.82340	D	-0.218958	0.18134	T	-0.376448	0.36137	T	0.308433926030992	0.25350	T	0.838616	0.51177	T	0.21079993	0.43386	0.4376821	0.67179	0.21079993	0.43386	0.4376821	0.67179	-8.005	0.61105	D	0.2454908806116993	0.33249	0.093	0.14201	B	.	.	2.899917	0.38433	20.7	0.99470775478835638	0.66312	0.97340	0.74132	D	AEFDIJ	0.457864	0.50913	N	-0.0220795721846033	0.40858	2.43365	0.0843888682915284	0.43763	2.671408	0.997568617948589	0.35763	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.54	5.54	0.82907	2.182000	0.42186	6.184000	0.54674	0.665000	0.62972	0.985000	0.35982	1.000000	0.68203	0.038000	0.14061	0.1288:0.0:0.151:0.7202	7.796	0.28312	733	0.53988	Dynein heavy chain, domain-1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1507.98	34	chr5	13917246	.	T	C	1507.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.790e-01;DP=826;ExcessHet=0.0000;FS=2.442;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=0.412;SOR=0.474	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1328	20	0	1	0
chr5	14397101	14397101	T	C	exonic	TRIO	.	nonsynonymous SNV	TRIO:NM_007118:exon29:c.T4370C:p.M1457T,	Mental retardation, autosomal dominant 44, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.995	D	0.986	D	0.000	D	1.000	D	3.405	M	-0.15	T	0.311	D	0.546	D	0.96	3.782	19.20	5.65	2.279	7.927	16.178	0.803	0.607880101629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.0	0.92824	D	0.995	0.67487	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.62	0.93917	H	-0.15	0.65192	T	-5.22	0.85103	D	0.933	0.93841	0.311	0.87728	D	0.546	0.83298	D	10	0.91930556	0.91287	D	0.60788	0.96567	D	0.803	0.93582	0.768	0.89530	0.770173575234	0.76806	0.8865844041988105	0.88627	2.08621322631	0.94675	0.935062050819	0.99249	D	0.461553	0.79828	T	0.385551	0.89062	D	0.316041	0.88925	D	0.99721485376358	0.91033	D	0.994516	0.98171	D	0.8800467	0.89670	0.8839668	0.93840	0.8800467	0.89671	0.8839668	0.93840	-12.877	0.88850	D	0.8126676643583495	0.88728	0.993	0.96223	P	.;.;.	.;.;.	4.517657	0.70805	25.6	0.98558679360083823	0.42948	0.96380	0.68855	D	AEFBHCI	0.913403	0.87534	D	0.886268292424851	0.91070	10.701	0.841236870122834	0.92495	11.45868	0.999999999999891	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.723	0.93126	0	.	.	5.65	5.65	0.86881	7.949000	0.87258	7.838000	0.70402	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	16.178	0.81689	700	0.57880	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	75.1	38	chr5	14397101	.	T	C	75.1	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-9.350e-01;DP=862;ExcessHet=0.1072;FS=66.961;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.49;ReadPosRankSum=-1.800e-01;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,100,1344	19	0	2	0
chr5	14397102	14397102	G	A	exonic	TRIO	.	nonsynonymous SNV	TRIO:NM_007118:exon29:c.G4371A:p.M1457I,	Mental retardation, autosomal dominant 44, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.979	D	0.97	D	0.000	D	1.000	D	2.125	M	0.19	T	-0.482	T	0.387	T	0.884	4.715	26.2	5.65	2.824	9.725	20.096	0.445	0.0409430656795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.91255	D	0.013	0.63109	D	0.979	0.59044	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.245	0.63543	M	0.19	0.60236	T	-3.48	0.69357	D	0.82	0.81559	-0.4822	0.69288	T	0.387	0.74187	T	10	0.7300097	0.74233	D	0.040943	0.59658	D	0.445	0.74727	0.603	0.73466	0.508882987362	0.50527	0.8542333247851932	0.85386	2.03962625952	0.94218	0.903453052044	0.96813	D	0.394776	0.75383	T	0.315296	0.84136	D	0.215124	0.83929	D	0.961490571498871	0.66098	D	0.997445	0.98962	D	0.7682298	0.81942	0.7615341	0.85911	0.7682298	0.81943	0.7615341	0.85912	-11.132	0.80376	D	0.7776095063335766	0.85790	0.993	0.96282	P	.;.;.	.;.;.	4.666563	0.74536	26.2	0.99449286284606386	0.65172	0.97759	0.76927	D	AEFBHCI	0.904397	0.85465	D	0.618858874204644	0.74370	6.120863	0.693219286210317	0.81863	7.627383	1.0	0.98316	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.723	0.93126	0	.	.	5.65	5.65	0.86881	9.914000	0.98694	11.752000	0.95431	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	20.096	0.97848	700	0.57880	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	92.68	38	chr5	14397102	.	G	A	92.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.650e+00;DP=917;ExcessHet=0.3300;FS=156.957;InbreedingCoeff=-0.0768;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.43;ReadPosRankSum=1.44;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,100,1344	18	0	3	0
chr5	14741832	14741832	G	A	exonic	ANKH	.	nonsynonymous SNV	ANKH:NM_054027:exon8:c.C1006T:p.L336F,	Chondrocalcinosis 2, Autosomal dominant;Craniometaphyseal dysplasia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1471871	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.029	B	0.022	B	0.000	D	1.000	D	1.525	L	-3.99	D	0.305	D	0.768	D	0.579	3.680	18.70	4.33	2.526	1.823	7.289	0.566	0.137256698389	.	.	7.477e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs762016447	2.191e-05	2.189e-05	2.317e-05	2.064e-05	0.0031	1.586e-05	1.357e-05	0.0020	0.0017	0	0.0001	3.827e-05	0	0	0.0031	4.501e-06	4.97e-05	0	5.258e-05	5.253e-05	6.427e-05	4.035e-05	0.0003	2.558e-05	1.831e-05	8.88e-05	5.388e-05	0	0	0.0003	0	0	0	0	5.88e-05	0	0	0.146	0.25055	T	0.017	0.60337	D	0.029	0.19866	B	0.022	0.19653	B	0.000021	0.55875	D	0.070231	0.999995	0.58761	D	0.695	0.17993	N	-3.99	0.96308	D	-1.26	0.31778	N	0.307	0.34659	0.305	0.87632	D	0.768	0.92094	D	10	0.26463753	0.43952	T	0.137257	0.81974	D	0.566	0.82289	.	.	0.917837007993	0.91701	0.8456879847696765	0.84529	0.964527887201	0.73131	0.810363471508	0.83548	D	0.596001	0.86982	D	0.00826967	0.52790	T	-0.000195872	0.70323	D	0.105439379811287	0.12945	T	0.886611	0.61335	D	0.08640544	0.20082	0.08930949	0.20877	0.08640544	0.20082	0.08930949	0.20876	-3.759	0.20194	T	0.09333357031326674	0.06128	0.133	0.28807	B	.	.	2.732860	0.35776	19.99	0.99846565644867302	0.92663	0.80034	0.39782	D	AEFDGBI	0.177490	0.30474	N	-0.116048989075874	0.36693	2.12444	0.0204100021419068	0.40664	2.430431	0.999998648420105	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.459711	0.06710	0	0.613276	0.41899	0	.	.	5.39	4.33	0.51083	1.866000	0.39127	4.740000	0.44601	0.676000	0.76740	0.963000	0.33788	1.000000	0.68203	0.908000	0.44358	0.2252:0.0:0.7747:0.0	7.289	0.25530	883	0.28872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1006.98	33	chr5	14741832	.	G	A	1006.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.580e-01;DP=797;ExcessHet=0.0000;FS=0.861;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=-2.250e-01;SOR=0.569	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1143	20	0	1	0
chr5	14751207	14751207	G	C	exonic	ANKH	.	nonsynonymous SNV	ANKH:NM_054027:exon5:c.C549G:p.H183Q,	Chondrocalcinosis 2, Autosomal dominant;Craniometaphyseal dysplasia, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.0	B	0.001	B	0.000	D	1.000	D	1.245	L	-3.39	D	-0.176	T	0.624	D	0.211	1.964	12.52	2.72	0.276	2.182	5.945	0.251	0.0589460882439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.27544	T	0.418	0.14200	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.044864	0.999929	0.81001	D	0.55	0.14455	N	-3.39	0.94210	D	-0.94	0.25118	N	0.612	0.62866	-0.1765	0.78268	T	0.624	0.86771	D	10	0.4264186	0.57204	T	0.058946	0.67493	D	0.251	0.56024	0.491	0.57732	0.860750592439	0.85940	0.46764186981673755	0.46683	1.07263255866	0.76850	0.749699652195	0.74402	T	0.620904	0.88116	D	0.0312862	0.55895	T	-0.192836	0.55324	T	0.428377896547318	0.30001	T	0.89551	0.63622	D	0.10753674	0.25428	0.115656085	0.27920	0.10753674	0.25428	0.115656085	0.27919	-3.688	0.19141	T	0.1557935486570135	0.18698	0.131	0.28086	B	.	.	2.614903	0.33970	19.49	0.94966174490112354	0.25888	0.95382	0.64502	D	AEFDBI	0.347542	0.44198	N	-0.247696541944797	0.31195	1.746794	-0.107228856194465	0.35099	2.026568	0.99987993412238	0.44625	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.51	2.72	0.31179	2.254000	0.42868	4.389000	0.43207	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.2201:0.1371:0.6428:0.0	5.945	0.18453	883	0.28872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1622.98	34	chr5	14751207	.	G	C	1622.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.68;DP=823;ExcessHet=0.0000;FS=2.291;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.09;ReadPosRankSum=0.622;SOR=0.850	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1377	20	0	1	0
chr5	16481072	16481072	C	T	exonic	RETREG1	.	nonsynonymous SNV	RETREG1:NM_019000:exon3:c.G184A:p.V62M	Neuropathy, hereditary sensory and autonomic, type IIB, Autosomal recessive	.	1	1502	19	0	0	19	0.00628515	.	.	244479	Inborn_genetic_diseases|Neuropathy,_hereditary_sensory_and_autonomic,_type_2B|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013142,MedGen:C2751092,OMIM:613115,Orphanet:970|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.999	D	0.981	D	0.000	D	0.964	D	0.695	N	0.83	T	-0.768	T	0.178	T	0.21	3.397	17.47	5.08	1.520	0.217	12.951	0.170	.	0.0033	0.00159744	0.0033	0.0009	0.0051	0	0.0018	0.0042	0.0045	0.0023	0.0034411	532	154602	rs143878016	0.0048	0.0048	0.0049	0.0047	0.0055	0.0047	0.0046	0.0054	0.0053	0.0008	0.0032	0.0004	0	0.0031	0.0024	0.0055	0.0045	0.0029	0.0030	0.0030	0.0031	0.0028	0.0050	0.0027	0.0027	0.0045	0.0044	0.0007	0	0.0033	0.0006	0	0.0015	0.0034	0.0050	0.0019	0.0027	0.066	0.36113	T	0.109	0.37449	T	0.996	0.77913	D	0.923	0.75168	D	0.000098	0.51296	D	0.135280	0.963721	0.38365	D	.	.	.	0.74	0.50459	T	-1.19	0.30346	N	0.267	0.30233	-0.7685	0.56940	T	0.178	0.52412	T	10	0.011584997	0.00253	T	.	.	.	0.170	0.43303	.	.	0.472023113445	0.46832	0.4008687952848419	0.40001	1.01671924767	0.74975	0.599503755569	0.52834	T	0.022619	0.17407	T	-0.518749	0.00447	T	-0.514616	0.20843	T	0.0150975185188845	0.00327	T	0.919808	0.70989	D	0.12491093	0.29296	0.14568304	0.34542	0.14728221	0.33676	0.16377048	0.37972	-7.131	0.54984	T	0.3694394751555748	0.46511	0.132	0.36455	B	.;.	.;.	3.980073	0.58499	24.0	0.99853363774972514	0.93279	0.31720	0.24408	N	AEFDGBI	0.162037	0.28817	N	0.229326786743082	0.52624	3.435491	0.225926690679091	0.51292	3.312884	0.999990147161625	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	5.95	5.08	0.68373	0.214000	0.17331	4.055000	0.41540	0.599000	0.40250	0.097000	0.22731	0.999000	0.35428	0.997000	0.79791	0.0:0.8662:0.0:0.1338	12.951	0.57797	697	0.58201	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.04762	2016.11	41	chr5	16481072	.	C	T	2016.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.620e-01;DP=875;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=0.758;SOR=0.725	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1510	19	0	2	0
chr5	16666729	16666729	G	A	exonic	MYO10	.	nonsynonymous SNV	MYO10:NM_012334:exon41:c.C6140T:p.T2047M,	.	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.976	D	0.451	P	.	.	1.000	D	0.69	N	-2.2	D	0.153	D	0.517	D	0.31	2.979	15.93	5.55	2.603	3.311	19.518	0.331	.	7.8e-05	0.00399361	0.0029	0	0	0.0002	0	7.046e-05	0	0.0193	0.0017982	278	154602	rs367593755	0.0010	0.0010	0.0006	0.0013	0.0152	0.0009	0.0009	0.0145	0.0142	0	2.261e-05	0	5.047e-05	0	0.0005	3.513e-05	0.0009	0.0152	0.0006	0.0006	0.0004	0.0008	0.0172	0.0005	0.0004	0.0142	0.0131	2.406e-05	0	0	0	0	0	0	0	0.0005	0.0172	0.006	0.61437	D	0.047	0.57104	D	0.976	0.58310	D	0.451	0.46123	P	.	.	.	.	0.984109	0.41145	D	1.245	0.31408	L	-2.22	0.87512	D	-1.16	0.37759	N	0.285	0.38848	0.153	0.85107	D	0.517	0.81922	D	9	0.0048452616	0.00103	T	.	.	.	0.331	0.65325	.	.	0.835573057445	0.83400	0.4412495170153938	0.44041	0.186795094325	0.20992	0.413193106651	0.26899	T	0.027146	0.46224	T	-0.294035	0.09234	T	-0.182813	0.56262	T	0.0511502807134386	0.05701	T	0.927207	0.74506	D	0.065808944	0.14100	0.18460608	0.41523	0.065808944	0.14100	0.18460608	0.41522	-5.758	0.44207	T	.	.	0.127	0.26917	B	.;.;.;.	.;.;.;.	4.392214	0.67793	25.1	0.99816057574149164	0.89973	0.86936	0.46331	D	AEFDGBCI	0.336769	0.43479	N	0.354494260471025	0.58978	4.073523	0.450025473087453	0.64718	4.733574	0.999999902261986	0.74766	0.706548	0.73137	0	0.615948	0.52940	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	3.410000	0.52417	9.767000	0.81536	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:1.0:0.0	19.518	0.95167	799	0.44747	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1277.98	34	chr5	16666729	.	G	A	1277.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.000e-02;DP=900;ExcessHet=0.0000;FS=0.644;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.19;ReadPosRankSum=-4.640e-01;SOR=0.585	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1207	20	0	1	0
chr5	16681966	16681966	T	C	exonic	MYO10	.	nonsynonymous SNV	MYO10:NM_012334:exon31:c.A4094G:p.N1365S,	.	.	437	1075	10	0	0	10	0.00462963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.999	D	0.98	D	.	.	1.000	D	1.79	L	0.12	T	-0.601	T	0.326	T	0.173	4.304	22.5	5.82	2.225	6.167	16.188	0.111	0.0203314300148	0.0005	0.00119808	0.0014	0.0002	0.0016	0.0001	0.0002	0.0013	0.0056	0.0032	0.0012419	192	154602	rs143433432	0.0013	0.0013	0.0011	0.0015	0.0139	0.0013	0.0012	0.0114	0.0105	0.0005	0.0017	0.0011	2.519e-05	3.749e-05	0.0139	0.0011	0.0016	0.0038	0.0011	0.0011	0.0009	0.0012	0.0044	0.0009	0.0009	0.0029	0.0025	0.0002	0	0.0010	0.0012	0	0	0.0102	0.0015	0.0043	0.0044	0.118	0.32296	T	0.149	0.44302	T	0.999	0.77913	D	0.91	0.64641	D	.	.	.	.	0.99996	0.53665	D	1.79	0.46772	L	0.12	0.61089	T	-1.41	0.36787	N	0.672	0.73285	-0.6006	0.64792	T	0.326	0.69461	T	9	0.014236093	0.00300	T	0.020331	0.42902	T	0.111	0.31313	.	.	0.787469884799	0.78549	0.46553543861419544	0.46472	0.630271690741	0.57025	0.80445587635	0.82643	D	0.028389	0.37928	T	-0.405973	0.02115	T	-0.358979	0.38171	T	0.0158370255733259	0.00371	T	0.978652	0.92496	D	0.1084692	0.25647	0.116809905	0.28199	0.1084692	0.25647	0.116809905	0.28198	-10.463	0.76634	D	.	.	0.100	0.17317	B	.;.;.;.	.;.;.;.	4.231042	0.64072	24.7	0.99889993147554623	0.96436	0.97775	0.77043	D	AEFDGBI	0.851346	0.76820	D	0.485487071961841	0.66241	4.924924	0.545534013226667	0.71085	5.601767	0.999999999469786	0.74766	0.67177	0.52595	0	0.588015	0.36545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.82	5.82	0.92740	6.145000	0.71533	6.143000	0.54081	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.188	0.81779	756	0.51065	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1639.98	35	chr5	16681966	.	T	C	1639.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.976;DP=874;ExcessHet=0.0000;FS=3.241;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=0.181;SOR=1.052	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr5	16818109	16818109	G	A	exonic	MYO10	.	nonsynonymous SNV	MYO10:NM_012334:exon3:c.C179T:p.T60M,	.	.	435	1085	2	0	0	2	0.00092081	.	.	721370	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.916	P	0.346	B	.	.	1.000	N	2.495	M	-0.61	T	0.341	D	0.775	D	0.2	1.084	9.425	-9.35	-2.296	0.100	16.566	0.349	0.213938589877	0.0020	.	0.0018	0.0006	0	0.0001	0.0006	0.0030	0	0	0.0017335	268	154602	rs201115810	0.0027	0.0027	0.0028	0.0025	0.0033	0.0026	0.0026	0.0032	0.0032	0.0003	0.0004	3.831e-05	0	0.0006	0.0017	0.0033	0.0016	8.145e-05	0.0016	0.0016	0.0019	0.0014	0.0032	0.0015	0.0014	0.0028	0.0027	0.0003	0.0088	0.0004	0	0	0.0004	0	0.0032	0.0014	0	0.077	0.40319	T	0.011	0.66756	D	0.916	0.50672	P	0.346	0.42645	B	.	.	.	.	1	0.08975	N	1.355	0.33814	L	-0.61	0.95179	T	-2.34	0.63669	N	0.154	0.16864	0.341	0.88199	D	0.775	0.92353	D	9	0.0059529245	0.00133	T	0.213939	0.87432	D	0.349	0.67049	.	.	0.445711490874	0.44190	0.16138815112101867	0.16059	0.187189779373	0.21033	0.20991641283	0.00808	T	0.083917	0.74897	T	-0.318262	0.07040	T	-0.232674	0.51511	T	0.0244160400845385	0.01197	T	0.189581	0.03081	T	0.029104732	0.02352	0.06978827	0.14747	0.029104732	0.02352	0.06978827	0.14747	-5.406	0.40977	T	.	.	0.072	0.12891	B	.;.;.;.;.	.;.;.;.;.	-0.707789	0.01303	0.070	0.87801014169234648	0.17492	0.05842	0.11785	N	AEFGBI	0.081642	0.16523	N	-1.23228982416853	0.04539	0.2050365	-1.4611115625026	0.02671	0.1232865	0.999999994227375	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	6.08	-9.35	0.00536	0.131000	0.15696	-1.412000	0.05500	-1.750000	0.00690	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.0928:0.1867:0.7205:0.0	16.566	0.84437	938	0.14419	Myosin head, motor domain;Myosin head, motor domain;Myosin head, motor domain;Myosin head, motor domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1040.98	36	chr5	16818109	.	G	A	1040.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.730e-01;DP=762;ExcessHet=0.0000;FS=4.290;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=-9.900e-01;SOR=0.635	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1139	20	0	1	0
chr5	17275352	17275352	G	A	exonic	BASP1	.	nonsynonymous SNV	BASP1:NM_001271606:exon2:c.G136A:p.A46T	.	.	399	1121	2	0	0	2	0.000891266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.031	B	0.039	B	0.089	N	1.000	N	1.175	L	0.93	T	-1.073	T	0.019	T	0.094	1.294	10.23	2.7	0.871	2.069	7.430	0.029	.	0.0094	0.0123802	0.0048	0.0441	0.0029	0.0024	0	0.0017	0.0018	0.0003	0.003247	502	154602	rs149655189	0.0013	0.0014	0.0014	0.0012	0.0299	0.0013	0.0013	0.0283	0.0277	0.0299	0.0024	0.0120	0.0008	0	0.0022	0.0003	0.0032	0.0003	0.0095	0.0095	0.0100	0.0091	0.0313	0.0091	0.0090	0.0298	0.0293	0.0313	0	0.0038	0.0121	0.0029	0	0.0034	0.0003	0.0095	0.0002	0.105	0.29823	T	0.241	0.24334	T	0.031	0.20130	B	0.039	0.23607	B	0.089467	0.20426	N	0.400890	1	0.08975	N	1.2	0.30300	L	0.93	0.44065	T	-2.59	0.55821	D	0.099	0.08227	-1.0733	0.08702	T	0.019	0.08173	T	10	0.002618432	0.00040	T	.	.	.	0.029	0.06676	.	.	0.0934897674506	0.08844	0.044748040058176564	0.04418	0.423247183127	0.42795	0.471216410398	0.34848	T	0.222334	0.58615	T	-0.599275	0.00147	T	-0.609218	0.12048	T	0.0114163136919421	0.00170	T	0.494051	0.15283	T	0.09669692	0.22779	0.12291796	0.29645	0.09669692	0.22779	0.12291796	0.29644	-5.584	0.42646	T	.	.	0.072	0.04356	B	.;.	.;.	2.315801	0.29649	18.19	0.97834758293880641	0.36285	0.19337	0.20621	N	AEFDGBHCI	0.124533	0.24064	N	-0.730770831120503	0.15161	0.7616325	-0.720347453278196	0.16454	0.8705294	0.999999950461352	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.5	2.7	0.31007	2.669000	0.46490	4.192000	0.42410	0.586000	0.30580	0.310000	0.25414	0.986000	0.30841	0.856000	0.40543	0.2758:0.0:0.7242:0.0	7.430	0.26292	922	0.19044	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	898.98	35	chr5	17275352	.	G	A	898.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.761;DP=746;ExcessHet=0.0000;FS=2.274;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.50;ReadPosRankSum=0.679;SOR=0.397	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1121	20	0	1	0
chr5	17655153	17655153	C	T	exonic	H3Y1	.	nonsynonymous SNV	H3Y1:NM_001355258:exon1:c.G386A:p.R129H,	.	.	933	584	5	0	0	5	0.00426257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00339457	.	.	.	.	.	.	.	.	0.0058399	152	26028	rs139670564	0.0078	0.0062	0.0075	0.0080	0.0101	0.0075	0.0074	0.0082	0.0080	0.0008	0.0059	0.0041	0	0.0141	0.0101	0.0085	0.0053	0.0100	0.0058	0.0058	0.0058	0.0058	0.0115	0.0055	0.0053	0.0091	0.0082	0.0007	0	0.0036	0.0014	0	0.0146	0.0068	0.0083	0.0052	0.0115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011746377	0.00255	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.923508	0.72088	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.49769	B	.	.	1.646546	0.21009	15.01	0.89699310346711458	0.19023	0.51438	0.28895	D	AEFDGI	.	.	.	.	.	.	.	.	.	0.0413807614660387	0.14481	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.103547	0.22722	0.547	-0.473	0.11508	4.108000	0.57555	-0.502000	0.08796	-0.251000	0.07141	1.000000	0.71638	0.002000	0.18203	0.053000	0.15439	0.3309:0.669:0.0:0.0	5.332	0.15246	986	0.02773	Histone H2A/H2B/H3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	322.98	14	chr5	17655153	.	C	T	322.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=539;ExcessHet=0.0000;FS=5.781;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.99;MQRankSum=1.66;QD=11.14;ReadPosRankSum=0.592;SOR=1.535	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,593	20	0	1	0
chr5	19571795	19571795	T	G	exonic	CDH18	.	nonsynonymous SNV	CDH18:NM_001167667:exon8:c.A1037C:p.N346T	.	.	434	1076	12	0	0	12	0.00554529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	B	0.038	B	0.000	N	0.998	D	-0.16	N	0.89	T	-1.094	T	0.051	T	0.242	2.612	14.69	4.01	0.923	3.851	11.304	0.040	0.00808449363578	0.0007	.	0.0006	0.0002	8.655e-05	0	0.0002	0.0009	0	0.0004	0.0005498	85	154602	rs150989071	0.0006	0.0006	0.0006	0.0007	0.0035	0.0006	0.0006	0.0023	0.0019	0.0003	0.0005	0.0065	2.52e-05	0.0001	0.0035	0.0005	0.0011	0.0006	0.0007	0.0007	0.0006	0.0007	0.0015	0.0006	0.0005	0.0007	0.0005	0.0002	0	0.0007	0.0069	0	0	0.0102	0.0006	0.0014	0.0015	0.083	0.35918	T	0.202	0.27414	T	0.027	0.19556	B	0.038	0.23361	B	0.000002	0.62929	N	0.099811	0.998287	0.44722	D	-0.585	0.02270	N	0.89	0.45636	T	-1.63	0.39119	N	0.181	0.26596	-1.0940	0.04899	T	0.051	0.21844	T	9	0.014262378	0.00300	T	0.008084	0.21418	T	0.040	0.10527	.	.	0.602933245068	0.59976	0.2640124338119328	0.26314	0.127789886917	0.14414	0.653760254383	0.60520	T	0.071764	0.34288	T	-0.454016	0.01069	T	-0.532455	0.19043	T	0.280897378921509	0.24209	T	0.718928	0.33194	T	0.12301191	0.28893	0.15382247	0.36129	0.12301191	0.28893	0.15382247	0.36128	-6.571	0.51705	T	.	.	0.091	0.28290	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.857260	0.37744	20.6	0.98749338834504785	0.45633	0.91655	0.53983	D	AEFI	0.548506	0.56176	D	-0.325614555395689	0.28179	1.552092	-0.114986403952836	0.34785	2.004899	0.0767323530381463	0.15737	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.17	4.01	0.45821	2.671000	0.46507	4.312000	0.42972	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.163:0.837	11.304	0.48559	894	0.26265	Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1424.98	33	chr5	19571795	.	T	G	1424.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.249e+00;DP=811;ExcessHet=0.0000;FS=5.058;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=0.580;SOR=0.338	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1181	20	0	1	0
chr5	23526453	23526453	G	T	exonic	PRDM9	.	nonsynonymous SNV	PRDM9:NM_001310214:exon11:c.G1365T:p.E455D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.462	P	0.173	B	0.437	N	1.000	N	1.63	L	2.94	T	-0.985	T	0.020	T	0.103	0.803	8.221	0.626	0.112	-2.403	3.092	0.032	0.00069067742938	.	.	8.312e-06	0	0	0	0	0	0	6.06e-05	6.5e-06	1	154602	rs769758225	9.577e-06	9.577e-06	8.167e-06	1.1e-05	0.0002	5.56e-06	4.35e-06	8.885e-05	7.053e-05	0	0	0	0	0	0	0	1.656e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.023	0.57104	D	0.462	0.36386	P	0.173	0.35463	B	0.437047	0.12674	N	0.646368	1	0.08975	N	1.555	0.39373	L	2.94	0.09728	T	-1.03	0.27052	N	0.126	0.11912	-0.9845	0.33951	T	0.020	0.08407	T	10	0.06980398	0.10067	T	6.91E-4	0.00418	T	0.032	0.07718	0.118	0.02577	0.260735089382	0.25697	0.014594831515937783	0.01416	0.110990978607	0.12528	0.336108922958	0.15855	T	0.03987	0.25335	T	-0.414647	0.01852	T	-0.736534	0.04038	T	0.117522902786732	0.14185	T	0.565643	0.19997	T	0.065552026	0.14020	0.054643895	0.09436	0.065552026	0.14019	0.054643895	0.09436	-3.993	0.23699	T	.	.	0.081	0.20274	B	.;.	.;.	0.437425	0.08075	4.802	0.97522652703586699	0.34411	0.00994	0.03770	N	AEFGI	0.017426	0.00456	N	-1.0214089281431	0.08160	0.3816465	-1.15077499080005	0.06754	0.3261853	0.00101898719304889	0.08126	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	2.71	0.626	0.16843	-0.999000	0.03808	0.075000	0.14313	-0.206000	0.08541	0.001000	0.13787	0.000000	0.08366	0.017000	0.10941	0.32:0.226:0.454:0.0	3.092	0.05917	984	0.02857	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2862.98	34	chr5	23526453	.	G	T	2862.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.113e+00;DP=894;ExcessHet=0.0000;FS=2.763;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.80;MQRankSum=0.566;QD=16.65;ReadPosRankSum=-5.770e-01;SOR=0.918	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1380	20	0	1	0
chr5	24537491	24537491	G	C	exonic	CDH10	.	nonsynonymous SNV	CDH10:NM_001317224:exon3:c.C415G:p.P139A	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.113	B	0.089	B	0.000	D	0.994	D	0.685	N	0.51	T	-0.988	T	0.132	T	0.337	2.779	15.25	5.82	2.758	6.166	19.080	0.171	0.0126616123945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	2.052e-06	1.362e-06	2.752e-06	0.0003	5.5e-07	1.5e-07	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.27783	T	0.322	0.19016	T	0.113	0.26349	B	0.089	0.29769	B	0.000007	0.62929	D	0.107767	0.994282	0.42226	D	1.345	0.33447	L	0.51	0.55439	T	-5.6	0.86608	D	0.237	0.26717	-0.9879	0.33126	T	0.132	0.44406	T	10	0.24970314	0.42286	T	0.012662	0.31427	T	0.171	0.43483	0.467	0.53891	0.657421573829	0.65455	0.3352004469086272	0.33433	1.21055628116	0.80829	0.684688329697	0.64942	T	0.216898	0.57919	T	-0.0909905	0.37913	T	-0.368478	0.37066	T	0.971937298774719	0.69505	D	0.874613	0.58533	D	0.29825673	0.52748	0.3812111	0.63135	0.29825673	0.52747	0.3812111	0.63135	-5.656	0.43300	T	.	.	0.125	0.26388	B	.	.	4.147594	0.62187	24.4	0.98174099968490525	0.38882	0.94283	0.60675	D	AEFI	0.655665	0.62792	D	0.111964081183095	0.47020	2.933682	0.321063892368563	0.56778	3.84183	0.999921944581713	0.46280	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.82	5.82	0.92740	5.305000	0.65541	11.852000	0.98107	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.080	0.93160	783	0.47268	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1263.98	33	chr5	24537491	.	G	C	1263.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.995;DP=823;ExcessHet=0.0000;FS=1.514;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.45;ReadPosRankSum=-1.361e+00;SOR=0.527	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1235	20	0	1	0
chr5	26885688	26885688	T	C	exonic	CDH9	.	nonsynonymous SNV	CDH9:NM_016279:exon11:c.A1808G:p.E603G,	.	.	436	1056	30	0	0	30	0.0140056	.	.	699060	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.559	P	0.451	P	0.000	D	1.000	D	2.28	M	0.39	T	-0.757	T	0.181	T	0.507	3.942	20.2	5.89	2.257	8.002	15.135	0.307	.	0.0052	0.00559105	0.0069	0.0009	0.0049	0.0002	0.0014	0.0083	0.0145	0.0114	0.0066429	1027	154602	rs34490509	0.0070	0.0070	0.0068	0.0073	0.0146	0.0069	0.0069	0.0121	0.0111	0.0007	0.0056	0.0046	7.56e-05	0.0024	0.0146	0.0075	0.0060	0.0115	0.0059	0.0059	0.0057	0.0060	0.0094	0.0055	0.0054	0.0082	0.0080	0.0015	0.0011	0.0094	0.0035	0.0004	0.0018	0.0034	0.0088	0.0081	0.0077	0.045	0.40832	D	0.156	0.31833	T	0.384	0.34453	B	0.451	0.46123	P	0.000079	0.52346	D	0.198141	0.999973	0.53665	D	2.295	0.65404	M	0.39	0.57419	T	-5.79	0.88065	D	0.736	0.73645	-0.7572	0.57556	T	0.181	0.52858	T	9	0.0105982125	0.00235	T	.	.	.	0.307	0.62838	.	.	0.49019323153	0.48651	0.7201756368752278	0.71960	0.604623075721	0.55391	0.440794110298	0.30685	T	0.160275	0.50405	T	-0.316683	0.07173	T	-0.216639	0.53061	T	0.0607416384655104	0.07285	T	0.859214	0.55036	D	0.3318728	0.55624	0.36143115	0.61567	0.3318728	0.55624	0.36143115	0.61567	-9.676	0.71950	D	.	.	0.259	0.49334	B	.	.	3.902883	0.56863	23.8	0.99848921927984158	0.92838	0.98369	0.82077	D	AEFGI	0.949439	0.96208	D	0.24730265959893	0.53504	3.51911	0.262897908325892	0.53386	3.507883	0.99998222151497	0.51787	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.89	5.89	0.94758	7.980000	0.87715	6.206000	0.54953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.669000	0.33223	0.0:0.0:0.0:1.0	15.135	0.72233	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1167.98	35	chr5	26885688	.	T	C	1167.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.738;DP=786;ExcessHet=0.0000;FS=6.933;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=-7.570e-01;SOR=1.418	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1018	20	0	1	0
chr5	31526196	31526196	G	C	exonic	DROSHA	.	nonsynonymous SNV	DROSHA:NM_013235:exon4:c.C737G:p.S246C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.998	D	0.896	P	0.002	N	0.622	N	0.345	N	1.27	T	-0.778	T	0.161	T	0.355	2.704	15.00	5.01	2.327	4.937	18.348	0.091	0.021355343066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	1.873e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.36509	T	0.031	0.70582	D	0.983	0.60381	D	0.431	0.45421	B	0.002478	0.36499	N	0.240977	0.622081	0.30771	N	1.39	0.34934	L	1.27	0.52642	T	-1.65	0.60029	N	0.587	0.60749	-0.7779	0.56420	T	0.161	0.49581	T	10	0.23630837	0.40709	T	0.021355	0.44116	T	0.091	0.26358	0.311	0.28451	0.347992687056	0.34409	0.22275663169640994	0.22190	0.302425210963	0.32575	0.622460842133	0.56077	T	0.207898	0.56768	T	-0.0730544	0.40837	T	-0.342714	0.40037	T	0.871081054210663	0.52098	D	0.856914	0.59406	D	0.14708985	0.33641	0.10399679	0.24967	0.14708985	0.33641	0.10399679	0.24967	-11.186	0.82595	D	.	.	0.094	0.41109	B	.;.;.;.;.	.;.;.;.;.	5.040248	0.83892	28.2	0.97739193215136333	0.35671	0.96934	0.71741	D	AEFGBI	0.497188	0.53181	N	0.366410420585315	0.59611	4.14197	0.439894576547549	0.64072	4.654016	0.999999776750253	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	5.243000	0.65217	11.610000	0.93539	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.348	0.90272	728	0.54609	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1970.98	37	chr5	31526196	.	G	C	1970.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.900e-02;DP=918;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.00;ReadPosRankSum=0.140;SOR=0.676	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1273	20	0	1	0
chr5	32107974	32107974	G	A	exonic	PDZD2	.	nonsynonymous SNV	PDZD2:NM_178140:exon25:c.G8359A:p.A2787T,	.	.	439	1078	5	0	0	5	0.00231374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	1.0	D	0.000	D	1.000	D	2.5	M	1.18	T	-0.603	T	0.258	T	0.617	3.988	20.4	5.88	2.778	4.675	17.722	0.271	0.0407713434352	.	.	1.65e-05	0	0	0	0	1.501e-05	0	6.074e-05	1.29e-05	2	154602	rs199744862	2.056e-05	2.052e-05	1.5e-05	2.616e-05	2.612e-05	1.458e-05	1.266e-05	1.833e-05	1.584e-05	0	0	0	0	0	0	2.612e-05	0	1.163e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000030	0.55875	D	0.000000	0.999586	0.47691	D	2.91	0.84121	M	1.18	0.37746	T	-1.89	0.44094	N	0.629	0.64308	-0.6026	0.64710	T	0.258	0.62889	T	10	0.7725844	0.77202	D	0.040771	0.59558	D	0.271	0.58633	0.695	0.83219	0.738404825437	0.73606	0.5793246563514091	0.57861	0.628954868064	0.56951	0.455772340298	0.32732	T	0.148903	0.48767	T	-0.0715521	0.41076	T	-0.232899	0.51490	T	0.837026476860046	0.49086	D	0.928707	0.73770	D	0.22850057	0.45571	0.3602107	0.61467	0.22850057	0.45571	0.3602107	0.61466	-8.958	0.67426	D	.	.	0.336	0.55617	B	.	.	4.644480	0.73970	26.1	0.99878603018792478	0.95491	0.94996	0.63061	D	AEFBI	0.527606	0.54948	D	0.768437782597368	0.84100	8.194321	0.725217139910356	0.84293	8.251943	0.999999987047749	0.74766	0.475973	0.10046	0	0.54472	0.11627	0	0.536957	0.11973	0	0.528226	0.09195	0	.	.	5.88	5.88	0.94564	4.820000	0.62361	8.704000	0.78116	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.528000	0.29660	0.0:0.0:1.0:0.0	17.722	0.88260	654	0.62520	PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	486.98	33	chr5	32107974	.	G	A	486.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.385e+00;DP=763;ExcessHet=0.0000;FS=1.633;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=3.80;ReadPosRankSum=-6.620e-01;SOR=0.887	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1199	20	0	1	0
chr5	32786307	32786307	C	T	exonic	NPR3	.	nonsynonymous SNV	NPR3:NM_001364460:exon7:c.C817T:p.R273W	.	.	426	1093	3	0	0	3	0.00137049	.	.	1570732	Inborn_genetic_diseases|NPR3-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	0.805	L	0.75	T	-0.636	T	0.205	T	0.922	3.773	19.16	4.2	1.583	1.803	17.039	0.355	0.0615222187363	0.0006	0.000399361	0.0011	0	0.0010	0.0002	0.0029	0.0013	0.0032	0.0009	0.0008991	139	154602	rs142228984	0.0012	0.0013	0.0012	0.0013	0.0014	0.0012	0.0012	0.0013	0.0012	0.0001	0.0004	0	2.543e-05	0.0021	0.0003	0.0013	0.0013	0.0014	0.0009	0.0009	0.0010	0.0008	0.0023	0.0008	0.0007	0.0013	0.0011	0.0001	0	0.0002	0	0	0.0018	0	0.0014	0.0005	0.0023	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999961	0.52935	D	2.045	0.56016	M	0.75	0.50192	T	-1.91	0.44471	N	0.699	0.83371	-0.6361	0.63312	T	0.205	0.56279	T	10	0.051540524	0.05051	T	0.061522	0.68359	D	0.355	0.67600	.	.	0.904445790692	0.90349	0.7448816576513672	0.74434	.	.	0.79996573925	0.81957	T	0.098695	0.65041	T	-0.0835324	0.39138	T	0.101068	0.76978	D	0.0681145236514431	0.08384	T	0.977602	0.92086	D	0.40438634	0.61035	0.32918283	0.58800	0.40438634	0.61035	0.32918283	0.58799	-6.689	0.68382	T	.	.	0.343	0.64159	A	.;.;.;.	.;.;.;.	4.721183	0.75951	26.4	0.99922296390473664	0.98852	0.72224	0.35359	D	AEFGBHCIJ	0.743746	0.68695	D	0.450440138550749	0.64226	4.672654	0.469376118130757	0.65969	4.891647	0.999999016305163	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.17	4.2	0.48814	2.331000	0.43552	1.391000	0.26116	0.599000	0.40250	1.000000	0.71638	0.974000	0.29927	0.997000	0.79791	0.2425:0.7575:0.0:0.0	17.039	0.86359	610	0.67008	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2346.11	37	chr5	32786307	.	C	T	2346.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.40;DP=949;ExcessHet=0.1072;FS=0.547;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=0.321;SOR=0.647	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,107,1648	19	0	2	0
chr5	33448686	33448686	C	A	exonic	TARS1	.	nonsynonymous SNV	TARS1:NM_001258438:exon3:c.C284A:p.A95E	.	.	435	1081	6	0	0	6	0.00276753	.	.	2827684	not_provided|TARS1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.01	D	0.991	D	0.924	D	0.000	D	1.000	D	1.875	L	0.9	T	-0.618	T	0.197	T	0.655	3.883	19.73	5.06	1.505	1.363	16.495	0.259	.	0.0075	0.00259585	0.0052	0.0024	0.0022	0	0.0012	0.0082	0.0044	0.0015	0.0055627	860	154602	rs141305584	0.0086	0.0086	0.0088	0.0084	0.0106	0.0084	0.0084	0.0105	0.0104	0.0013	0.0023	0.0020	0	0.0015	0.0014	0.0106	0.0056	0.0011	0.0060	0.0060	0.0065	0.0054	0.0110	0.0056	0.0055	0.0103	0.0101	0.0020	0.0011	0.0024	0.0017	0	0.0013	0.0068	0.0110	0.0047	0.0012	0.001	0.78490	D	0.038	0.83351	D	0.984	0.60733	D	0.924	0.65913	D	0.000001	0.84330	D	0.094242	0.999919	0.81001	D	2.48	0.72069	M	0.9	0.49358	T	-2.81	0.64478	D	0.473	0.66101	-0.6176	0.64088	T	0.197	0.55187	T	10	0.007931799	0.00180	T	.	.	.	0.259	0.57090	.	.	0.629843413301	0.62682	0.8895043868043414	0.88920	0.708483902855	0.61559	0.489626407623	0.37386	T	0.141935	0.47725	T	-0.290506	0.09585	T	-0.172483	0.57216	T	0.0215080306690214	0.00855	T	0.960654	0.85269	D	0.94583714	0.95841	0.9155547	0.96084	0.94583714	0.95841	0.9155547	0.96084	-14.13	0.95378	D	0.43071947520518894	0.51789	0.931	0.93759	P	.;.;.;.;.	.;.;.;.;.	3.548233	0.49866	22.8	0.98770609151442046	0.45971	0.89403	0.49846	D	AEFDBCI	0.311890	0.41749	N	0.189382198052293	0.50690	3.256598	0.146604358279109	0.46964	2.93378	0.999999774766515	0.74766	0.732398	0.92422	0	0.581341	0.33841	0	0.698795	0.65105	0	0.727631	0.95156	0	.	.	5.94	5.06	0.67838	1.414000	0.34344	3.343000	0.37723	0.549000	0.26987	0.752000	0.29155	0.998000	0.33993	0.994000	0.71098	0.1322:0.8678:0.0:0.0	16.495	0.84083	731	0.54177	TGS;TGS;TGS;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	978.98	33	chr5	33448686	.	C	A	978.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.356;DP=799;ExcessHet=0.0000;FS=2.689;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.20;ReadPosRankSum=1.02;SOR=0.458	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1352	20	0	1	0
chr5	33984568	33984568	C	T	exonic	SLC45A2	.	nonsynonymous SNV	SLC45A2:NM_001012509:exon1:c.G16A:p.G6R	Albinism, oculocutaneous, type IV	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.952	P	0.438	B	0.468	N	0.729	N	0.695	N	2.23	T	-1.068	T	0.082	T	0.321	3.177	16.63	3.85	2.465	0.716	13.324	0.049	0.0199858649812	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1290322631	2.743e-06	2.736e-06	2.73e-06	2.757e-06	0.0002	6.4e-07	4.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0.0002	0	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.72154	D	0.007	0.74150	D	0.498	0.54136	P	0.178	0.45631	B	0.467932	0.12313	N	0.775620	0.728725	0.29851	N	2.31	0.66127	M	2.23	0.31470	T	-0.88	0.30762	N	0.262	0.33796	-1.0681	0.09836	T	0.082	0.32324	T	10	0.0977515	0.17626	T	0.019986	0.42488	T	0.049	0.13647	0.263	0.20788	0.263140351381	0.25927	0.5728708748212141	0.57215	0.0428393888348	0.04621	0.346671551466	0.17431	T	0.237133	0.60475	T	-0.190441	0.22193	T	-0.414477	0.31711	T	0.780915677547455	0.45107	D	0.805819	0.45382	T	0.14603458	0.33449	0.22626188	0.47597	0.14603458	0.33449	0.22626188	0.47596	-3.504	0.16826	T	.	.	0.101	0.17488	B	.;.;.	.;.;.	2.342601	0.30025	18.31	0.99916895899516722	0.98449	0.38261	0.25948	N	AEFDBI	.	.	.	-0.219443216607906	0.32336	1.82256	-0.212170384258014	0.31098	1.756815	0.999999990972312	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.74	3.85	0.43556	0.510000	0.22430	0.526000	0.19207	0.589000	0.31548	0.000000	0.06391	0.000000	0.08366	0.641000	0.32449	0.0:0.9219:0.0:0.0781	13.324	0.59887	821	0.40814	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2076.98	36	chr5	33984568	.	C	T	2076.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.095e+00;DP=873;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=0.788;SOR=0.741	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1312	20	0	1	0
chr5	34757524	34757524	T	G	exonic	RAI14	.	nonsynonymous SNV	RAI14:NM_001145523:exon2:c.T69G:p.D23E	.	.	432	1089	1	0	0	1	0.000458926	.	.	699071	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.23	T	1.0	D	0.998	D	.	.	0.996	N	2.23	M	-0.24	T	-0.138	T	0.287	T	0.254	2.010	12.68	-10.8	-2.841	-0.146	25.218	0.296	.	0.0035	0.00519169	0.0010	0.0100	0.0007	0	0	3.005e-05	0.0011	0	0.0009832	152	154602	rs114642247	0.0003	0.0003	0.0003	0.0003	0.0093	0.0003	0.0003	0.0084	0.0081	0.0093	0.0006	0	0	0	0.0016	3.327e-05	0.0007	1.159e-05	0.0026	0.0026	0.0026	0.0027	0.0091	0.0024	0.0023	0.0084	0.0081	0.0091	0	0.0010	0	0	0	0.0068	4.41e-05	0.0014	0.0002	0.284	0.25768	T	0.372	0.20811	T	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.996091	0.23116	N	.	.	.	-0.24	0.68474	T	-2.03	0.58085	N	0.145	0.18784	-0.1377	0.79221	T	0.287	0.65890	T	9	0.0054365396	0.00120	T	.	.	.	0.296	0.61616	0.343	0.33626	0.440077040801	0.43627	0.16409418693512764	0.16329	0.651973173108	0.58407	0.482592046261	0.36414	T	0.193648	0.54919	T	-0.441705	0.01264	T	-0.400999	0.33269	T	0.0258881618739978	0.01391	T	0.943306	0.79334	D	0.071022294	0.15692	0.09533454	0.22605	0.071022294	0.15691	0.09533454	0.22605	-5.024	0.37505	T	.	.	0.345	0.60014	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	-0.066150	0.03848	0.829	0.94491671920696363	0.24956	0.15531	0.18957	N	AEFBCI	0.152875	0.27763	N	-1.11673836189263	0.06345	0.2918265	-1.42492367745883	0.03004	0.1393423	0.999999999876074	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.42	-10.8	0.00171	-0.144000	0.10263	-8.002000	0.01046	-1.097000	0.01519	0.005000	0.17040	0.000000	0.08366	0.233000	0.22815	0.0:0.1492:0.0:0.8508	25.218	0.99993	885	0.28214	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1739.98	34	chr5	34757524	.	T	G	1739.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.170e-01;DP=953;ExcessHet=0.0000;FS=0.699;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.50;ReadPosRankSum=0.137;SOR=0.819	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,117,1755	20	0	1	0
chr5	34868920	34868920	G	A	exonic	TTC23L	.	nonsynonymous SNV	TTC23L:NM_001317949:exon8:c.G883A:p.V295I	.	.	426	1084	11	1	0	13	0.00596057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.994	D	0.875	P	0.386	N	0.999	N	2.175	M	2.57	T	-1.104	T	0.079	T	0.085	3.072	16.26	3.1	0.760	2.033	4.288	0.095	.	8.2e-05	0.00219649	0.0020	0	0.0007	0	0	0.0005	0.0036	0.0109	0.0010867	168	154602	rs148933690	0.0006	0.0006	0.0004	0.0008	0.0077	0.0005	0.0005	0.0072	0.0070	2.992e-05	0.0003	0	2.528e-05	0	0.0043	7.663e-05	0.0010	0.0077	0.0005	0.0005	0.0004	0.0006	0.0068	0.0004	0.0004	0.0050	0.0044	2.407e-05	0	0.0020	0	0	0	0	0.0001	0.0024	0.0068	0.301	0.14449	T	0.057	0.46406	T	0.994	0.66517	D	0.875	0.62107	P	0.386136	0.04450	N	1.440130	0.999487	0.21117	N	2.05	0.56469	M	2.57	0.13552	T	-0.37	0.13226	N	0.125	0.11769	-1.1044	0.03598	T	0.079	0.31344	T	10	0.0075268745	0.00171	T	.	.	.	0.095	0.27398	.	.	0.220303561663	0.21668	0.0426212552666977	0.04207	0.0981529004897	0.11081	0.417615860701	0.27510	T	0.010888	0.09781	T	-0.620682	0.00109	T	-0.660618	0.08224	T	0.0720239998466924	0.08932	T	0.665133	0.27420	T	0.03708324	0.04685	0.042754248	0.05165	0.03708324	0.04685	0.042754248	0.05165	-3.141	0.11773	T	.	.	0.085	0.14108	B	.;.;.	.;.;.	2.861198	0.37805	20.6	0.99631159585110041	0.76020	0.59415	0.30909	D	AEFGBCI	0.083085	0.16830	N	0.399067535779151	0.61371	4.337377	0.338805786792019	0.57834	3.950984	0.999969831962187	0.48965	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.89	3.1	0.34780	1.606000	0.36437	3.547000	0.39031	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2702:0.1699:0.5598:0.0	4.288	0.10311	576	0.70006	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1958.98	35	chr5	34868920	.	G	A	1958.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.930e-01;DP=857;ExcessHet=0.0000;FS=1.970;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=0.595;SOR=0.873	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1340	20	0	1	0
chr5	34911629	34911629	C	T	exonic	RAD1	.	nonsynonymous SNV	RAD1:NM_002853:exon4:c.G491A:p.R164H,	.	.	.	.	.	.	.	.	.	.	.	2696018	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.019	B	0.007	B	0.000	N	0.999	D	0.63	N	2.35	T	-1.105	T	0.033	T	0.196	3.238	16.86	4.76	1.397	5.472	14.437	0.088	0.0080840482025	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs764156346	9.577e-06	9.577e-06	1.225e-05	6.875e-06	1.169e-05	5.56e-06	4.35e-06	6.52e-06	5.03e-06	0	0	0	0	0	0	1.169e-05	1.656e-05	0	1.315e-05	1.314e-05	2.57e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.006	0.61437	D	0.083	0.41405	T	0.019	0.17989	B	0.007	0.12992	B	0.000024	0.55875	N	0.151874	0.998786	0.45440	D	1.37	0.34214	L	2.35	0.16217	T	-2.88	0.60507	D	0.463	0.49965	-1.1046	0.03578	T	0.033	0.14334	T	10	0.23659143	0.40743	T	0.008084	0.21418	T	0.088	0.25558	.	.	0.255270683199	0.25152	0.5746098948242752	0.57389	0.0971038161414	0.10970	0.588239073753	0.51246	T	0.093258	0.39174	T	-0.19766	0.21144	T	-0.521702	0.20123	T	0.784476041793823	0.45332	D	0.874313	0.58483	D	0.45678058	0.64470	0.282886	0.54279	0.45678058	0.64471	0.282886	0.54278	-6.296	0.48690	T	.	.	0.259	0.49950	B	.;.	.;.	3.600276	0.50854	23.0	0.99160794470926572	0.54099	0.89206	0.49532	D	AEFBCI	0.532304	0.55222	D	-0.228601575858741	0.31965	1.797732	-0.0219360057908971	0.38727	2.285746	0.999999779741731	0.74766	0.744818	0.98587	0	0.732433	0.95613	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.63	4.76	0.60189	5.525000	0.66826	4.940000	0.46203	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9293:0.0:0.0707	14.437	0.66865	515	0.74782	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1097.98	37	chr5	34911629	.	C	T	1097.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=802;ExcessHet=0.0000;FS=2.549;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.36;ReadPosRankSum=1.16;SOR=1.002	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1256	20	0	1	0
chr5	34914757	34914757	T	C	exonic	RAD1	.	nonsynonymous SNV	RAD1:NM_002853:exon2:c.A136G:p.K46E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.002	N	1.000	N	-0.2	N	2.56	T	-0.934	T	0.011	T	0.284	0.022	4.127	1.99	0.100	0.994	5.5	0.037	0.00390725684627	0.0002	.	4.119e-05	0	0	0	0	7.493e-05	0	0	3.88e-05	6	154602	rs369787157	7.593e-05	7.593e-05	5.445e-05	9.763e-05	9.532e-05	6.423e-05	6.004e-05	8.036e-05	7.491e-05	2.987e-05	4.472e-05	0	0	0	0	9.532e-05	1.656e-05	1.159e-05	5.255e-05	5.253e-05	2.569e-05	8.066e-05	0.0001	2.556e-05	1.83e-05	4.764e-05	3.338e-05	2.412e-05	0	0	0	0	0	0	0.0001	0	0	1.0	0.00964	T	1.0	0.04636	T	0.0	0.02946	B	0.0	0.01387	B	0.001802	0.37945	N	0.293362	0.999879	0.19925	N	-0.795	0.01629	N	2.56	0.13673	T	1.37	0.00867	N	0.265	0.30004	-0.9341	0.43530	T	0.011	0.04369	T	10	0.061638147	0.07758	T	0.003907	0.09211	T	0.037	0.09474	.	.	0.209622950755	0.20551	0.37596155215312466	0.37510	0.10617641788	0.12004	0.36910545826	0.20703	T	0.015526	0.13004	T	-0.382073	0.03023	T	-0.571263	0.15333	T	0.030154219428794	0.02013	T	0.868313	0.62218	D	0.28496101	0.51520	0.09931071	0.23706	0.28496101	0.51519	0.09931071	0.23705	-5.328	0.40219	T	.	.	0.072	0.35540	B	.;.;.	.;.;.	1.495859	0.19233	14.16	0.80047578070939263	0.13020	0.55061	0.29770	D	ALL	0.088857	0.18012	N	-0.926583109834809	0.10224	0.4875305	-0.781462253426156	0.14950	0.7838173	0.999999999999707	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.638787	0.57140	0	.	.	5.83	1.99	0.25423	0.997000	0.29333	2.247000	0.31658	0.665000	0.62972	0.708000	0.28703	0.997000	0.33255	0.842000	0.39752	0.0:0.1525:0.2762:0.5713	5.5	0.16114	517	0.74620	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1399.98	33	chr5	34914757	.	T	C	1399.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.830e-01;DP=829;ExcessHet=0.0000;FS=0.654;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.77;ReadPosRankSum=-1.549e+00;SOR=0.585	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1393	20	0	1	0
chr5	34925437	34925437	G	A	exonic	BRIX1	.	nonsynonymous SNV	BRIX1:NM_018321:exon10:c.G1004A:p.R335Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.716	P	0.042	B	0.001	D	0.965	D	0.6	N	0.94	T	-1.070	T	0.042	T	0.313	2.348	13.81	3.69	1.423	2.522	6.312	0.064	0.00329284717092	.	.	2.512e-05	0	0	0	0	4.574e-05	0	0	1.94e-05	3	154602	rs774372093	1.3e-05	1.368e-05	1.906e-05	6.878e-06	2.988e-05	8.32e-06	6.7e-06	8.1e-06	6.42e-06	2.988e-05	0	0	0	0	0	1.349e-05	4.969e-05	0	6.577e-06	6.569e-06	0	1.347e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.051	0.39334	T	0.226	0.25438	T	0.716	0.42206	P	0.042	0.24114	B	0.000551	0.43413	D	0.251536	0.964674	0.38421	D	0.55	0.14455	N	0.94	0.43672	T	-0.14	0.09135	N	0.167	0.17691	-1.0695	0.09523	T	0.042	0.18035	T	10	0.08402088	0.14040	T	0.003293	0.07298	T	0.064	0.18567	0.248	0.18447	0.288221626996	0.28429	0.2089216170069852	0.20808	0.26873535438	0.29393	0.370015501976	0.20833	T	0.030872	0.21780	T	-0.163172	0.26274	T	-0.456676	0.26962	T	0.182131856679916	0.19369	T	0.869013	0.57273	D	0.04728374	0.08058	0.06562688	0.13328	0.04728374	0.08058	0.06562688	0.13328	-4.502	0.30915	T	.	.	0.136	0.29670	B	.	.	2.898309	0.38406	20.7	0.99096758629382631	0.52371	0.88231	0.48067	D	AEFBI	0.162378	0.28854	N	-0.053262783424513	0.39455	2.327105	0.0822432320743241	0.43657	2.66287	0.999986279534929	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.72	3.69	0.41483	2.561000	0.45567	2.900000	0.35444	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.3264:0.0:0.6736:0.0	6.312	0.20378	520	0.74355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	568.98	35	chr5	34925437	.	G	A	568.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.589;DP=775;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.38;ReadPosRankSum=1.30;SOR=0.727	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,950	20	0	1	0
chr5	35025765	35025765	C	A	exonic	AGXT2	.	stopgain	AGXT2:NM_001306173:exon9:c.G961T:p.E321X	.	.	.	.	.	.	.	.	.	0.1942	0.536	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	7.469	39	4.74	1.323	6.384	16.092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455883443	2.736e-06	2.736e-06	2.723e-06	2.75e-06	0.0003	6.4e-07	4.3e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.044710	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.339	0.38027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.540069	0.95463	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	10.502858	0.99768	48	0.99777704542382495	0.86519	0.96312	0.68525	D	AEFBI	0.816471	0.73819	D	1.03861379400437	0.96813	15.179	0.875071645309083	0.94393	12.72497	0.999999934829284	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.62	4.74	0.59717	6.588000	0.73964	7.561000	0.60481	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.8655:0.1345:0.0	16.092	0.80903	720	0.55521	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1963.98	33	chr5	35025765	.	C	A	1963.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.547e+00;DP=918;ExcessHet=0.0000;FS=4.211;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.34;ReadPosRankSum=-1.480e-01;SOR=1.082	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr5	35646682	35646682	A	G	exonic	SPEF2	.	nonsynonymous SNV	SPEF2:NM_024867:exon5:c.A601G:p.R201G	.	.	436	1032	52	2	0	56	0.0264151	.	.	3185083	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.991	D	0.000	D	1.000	D	1.935	M	3.29	T	-0.972	T	0.104	T	0.772	3.738	18.98	5.76	2.209	4.892	11.533	0.128	.	0.0058	0.00878594	0.0089	0.0011	0.0049	0.0003	0.0018	0.0066	0.0122	0.0331	0.0081694	1263	154602	rs80010329	0.0081	0.0082	0.0073	0.0090	0.0339	0.0080	0.0080	0.0328	0.0324	0.0011	0.0066	0.0021	2.524e-05	0.0020	0.0295	0.0071	0.0077	0.0339	0.0059	0.0059	0.0057	0.0061	0.0312	0.0055	0.0054	0.0272	0.0256	0.0012	0.0033	0.0092	0.0023	0.0008	0.0011	0.0102	0.0075	0.0071	0.0312	0.007	0.61437	D	0.011	0.69154	D	0.999	0.77913	D	0.936	0.79672	D	0.000010	0.62929	D	0.106914	0.975574	0.39200	D	2.585	0.75554	M	2.44	0.23082	T	-4.01	0.76576	D	0.669	0.69125	-0.9723	0.36712	T	0.104	0.38144	T	10	0.0059509277	0.00133	T	.	.	.	0.128	0.35103	.	.	0.280181792013	0.27631	0.34883728264109054	0.34797	0.0598001417922	0.06652	0.390581935644	0.23751	T	0.126954	0.67848	T	-0.279306	0.10741	T	-0.149605	0.59278	T	0.0231520665780728	0.01041	T	0.890711	0.64723	D	0.26254478	0.49316	0.36515856	0.61870	0.26254478	0.49316	0.36515856	0.61870	-7.081	0.55796	T	.	.	0.324	0.58942	B	.;.;.;.;.;.	.;.;.;.;.;.	4.926798	0.81191	27.5	0.99854414740950403	0.93368	0.93860	0.59400	D	AEFI	0.746136	0.68860	D	0.686472731394631	0.78746	6.934124	0.683200252497875	0.81105	7.449289	0.988114933324361	0.31422	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.76	5.76	0.90726	5.017000	0.63813	11.264000	0.91177	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.8504:0.1496:0.0:0.0	11.533	0.49870	581	0.69614	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.09524	5285.9	33	chr5	35646682	.	A	G	5285.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.343;DP=929;ExcessHet=0.0082;FS=0.963;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=18.16;ReadPosRankSum=3.29;SOR=0.774	GT:AD:DP:GQ:PL	0/1:46,49:95:99:1186,0,1072	18	1	2	0
chr5	35654710	35654710	C	T	exonic	SPEF2	.	nonsynonymous SNV	SPEF2:NM_024867:exon7:c.C962T:p.A321V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.994	D	0.000	D	1.000	D	1.74	L	2.25	T	-1.102	T	0.100	T	0.71	4.720	26.3	5.42	2.704	3.623	15.111	0.127	0.029998944285	.	.	8.378e-06	0	0	0	0	1.512e-05	0	0	1.29e-05	2	154602	rs201211066	3.578e-05	3.625e-05	4.38e-05	2.767e-05	0.0037	2.778e-05	2.516e-05	0.0025	0.0021	0	0	0.0007	0	0	0.0037	4.504e-06	0.0001	0	4.604e-05	4.598e-05	5.142e-05	4.041e-05	.	2.111e-05	1.528e-05	.	.	0	0	0	0.0014	0	0	0	0	0.0010	0	0.003	0.68238	D	0.01	0.67890	D	1.0	0.90584	D	0.976	0.82059	D	0.000000	0.84330	D	0.000000	0.99696	0.43535	D	2.72	0.79541	M	2.25	0.17761	T	-3.56	0.68880	D	0.494	0.55193	-1.1024	0.03813	T	0.100	0.37290	T	10	0.18849248	0.34407	T	0.029999	0.52399	D	0.127	0.34888	0.249	0.18602	0.744421343069	0.74212	0.2626146049587347	0.26174	0.231603588215	0.25714	0.700866937637	0.67268	T	0.182767	0.68672	T	0.0167154	0.53937	T	-0.213766	0.53335	T	0.937848031520844	0.60797	D	0.888711	0.61924	D	0.47023186	0.65304	0.5109304	0.71738	0.47023186	0.65305	0.5109304	0.71739	-11.055	0.79959	D	.	.	0.365	0.66876	A	.;.;.;.;.	.;.;.;.;.	4.806150	0.78137	26.8	0.99932648458003792	0.99439	0.96157	0.67794	D	AEFI	0.509968	0.53921	D	0.691130525341345	0.79050	6.996847	0.684415032730814	0.81195	7.470381	0.999903038425471	0.45458	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.42	5.42	0.78666	3.546000	0.53409	7.687000	0.65600	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8589:0.1411:0.0	15.111	0.72032	580	0.69689	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	362.98	27	chr5	35654710	.	C	T	362.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.53;DP=643;ExcessHet=0.0000;FS=1.775;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.52;ReadPosRankSum=-1.041e+00;SOR=1.352	GT:AD:DP:GQ:PL	0/0:32,0:32:90:0,90,1350	20	0	1	0
chr5	35740214	35740214	G	T	exonic	SPEF2	.	nonsynonymous SNV	SPEF2:NM_024867:exon23:c.G3277T:p.D1093Y,	.	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.961	D	0.002	N	1.000	D	1.825	L	3.16	T	-1.212	T	0.069	T	0.551	4.606	25.1	5.83	2.770	5.474	20.134	0.238	0.0437317954748	.	.	5.797e-05	0	0	0	0	1.498e-05	0.0011	0.0003	4.53e-05	7	154602	rs751322523	2.257e-05	2.257e-05	1.361e-05	3.163e-05	0.0003	1.61e-05	1.416e-05	9.791e-05	7.838e-05	0	0	0	0	0	0.0003	1.349e-05	3.312e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.001	0.83351	D	0.998	0.90584	D	0.87	0.70482	P	0.001535	0.38731	N	0.279156	0.998001	0.44406	D	2.615	0.76484	M	3.16	0.07711	T	-4.02	0.74269	D	0.551	0.57690	-1.2118	0.00081	T	0.069	0.28080	T	10	0.29617023	0.47183	T	0.043732	0.61136	D	0.238	0.54217	0.293	0.25560	0.614488361678	0.61137	0.31452597909782815	0.31365	0.219951956105	0.24538	0.40111336112	0.25224	T	0.156794	0.79023	T	-0.273232	0.11399	T	-0.355956	0.38521	T	0.900831341743469	0.55344	D	0.862614	0.55864	D	0.4989921	0.67037	0.7059621	0.82665	0.4989921	0.67037	0.7059621	0.82666	-10.07	0.75024	D	.	.	0.217	0.44745	B	.;.;.	.;.;.	5.040090	0.83879	28.2	0.9956237815127692	0.71831	0.98039	0.79086	D	AEFBI	0.773550	0.70753	D	0.757193006447374	0.83372	8.000419	0.767394663633383	0.87449	9.22636	0.999999999995025	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.83	5.83	0.93059	5.580000	0.67161	11.817000	0.97118	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	20.134	0.98010	591	0.68823	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1393.98	40	chr5	35740214	.	G	T	1393.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.054e+00;DP=910;ExcessHet=0.0000;FS=5.566;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.32;ReadPosRankSum=1.48;SOR=1.288	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr5	35876347	35876347	C	T	exonic	IL7R	.	nonsynonymous SNV	IL7R:NM_002185:exon8:c.C1241T:p.T414M,	Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, Autosomal recessive	.	0	1425	89	8	0	105	0.035533	.	.	138275	Immunodeficiency_104|not_specified	MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971|MedGen:CN169374	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.07	T	0.987	D	0.548	P	0.218	N	1.000	N	1.7	L	1.78	T	-1.047	T	0.027	T	0.38	1.110	9.529	-1.06	-0.218	-0.672	3.165	0.111	.	0.0039	0.013778	0.0107	0.0012	0.0020	0.0271	0.0086	0.0056	0.0155	0.0359	0.0098252	1519	154602	rs2229232	0.0071	0.0071	0.0061	0.0082	0.0372	0.0070	0.0069	0.0362	0.0357	0.0017	0.0023	0.0135	0.0358	0.0085	0.0239	0.0037	0.0088	0.0372	0.0059	0.0059	0.0052	0.0066	0.0326	0.0055	0.0054	0.0284	0.0268	0.0010	0.0011	0.0043	0.0147	0.0301	0.0068	0.0102	0.0047	0.0100	0.0326	0.015	0.52492	D	0.031	0.53788	D	0.987	0.61912	D	0.548	0.49136	P	0.217605	0.03431	N	1.447760	1	0.08975	N	1.83	0.48079	L	1.78	0.25678	T	-1.11	0.28703	N	0.047	0.01911	-1.0472	0.15188	T	0.027	0.11663	T	10	0.0026548505	0.00041	T	.	.	.	0.111	0.31313	.	.	.	.	0.4007483538174258	0.39989	0.0171820885831	0.01662	0.229907736182	0.01961	T	0.363134	0.72893	T	-0.511019	0.00495	T	-0.481058	0.24334	T	0.0202699972013287	0.00727	T	0.692831	0.30243	T	0.020204129	0.00571	0.035991907	0.02956	0.024279028	0.01243	0.034701396	0.02585	-5.001	0.36851	T	0.3171601064527724	0.41522	0.087	0.10979	B	.	.	0.676186	0.10444	7.166	0.99348098151366837	0.60452	0.04635	0.10302	N	AEFGBCI	0.066404	0.13002	N	-0.644685924130409	0.17615	0.9079335	-0.840010357948379	0.13527	0.7022545	0.999916113977116	0.45857	0.653281	0.48532	0	0.681609	0.65952	0	0.573888	0.23631	0	0.669	0.65921	0	.	.	5.6	-1.06	0.09491	-0.111000	0.10778	-1.445000	0.05423	-1.021000	0.01731	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2999:0.3346:0.0:0.3655	3.165	0.06143	645	0.63593	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.04762	3081.11	38	chr5	35876347	.	C	T	3081.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.97;DP=1012;ExcessHet=0.1072;FS=8.376;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=1.57;SOR=0.423	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1235	19	0	2	0
chr5	36976312	36976312	G	C	exonic	NIPBL	.	nonsynonymous SNV	NIPBL:NM_015384:exon9:c.G1405C:p.V469L	Cornelia de Lange syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.073	B	0.025	B	0.000	D	1.000	D	0.695	N	-3.35	D	0.043	D	0.661	D	0.555	3.882	19.73	5.58	2.641	9.439	19.567	0.343	0.0406808251233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	6.568e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.011	0.55530	D	0.283	0.36365	T	0.043	0.24078	B	0.011	0.20508	B	0.000063	0.52346	D	0.128294	0.999708	0.48408	D	1.61	0.41143	L	-3.35	0.94022	D	-0.52	0.16187	N	0.585	0.60579	0.043	0.83110	D	0.661	0.88235	D	10	0.32050586	0.49425	T	0.040681	0.59509	D	0.343	0.66488	0.25	0.18757	0.879801803537	0.87862	0.410959878834727	0.41011	0.237173385282	0.26261	0.753291904926	0.74932	T	0.18814	0.54196	T	0.196373	0.73552	D	0.0442995	0.73208	D	0.69907339231432	0.40675	D	0.947805	0.79866	D	0.13591537	0.31528	0.17231335	0.39477	0.13591537	0.31527	0.17231335	0.39476	-4.229	0.27169	T	.	.	0.624	0.70897	P	.;.	.;.	4.008901	0.59128	24.1	0.99731517772583023	0.82833	0.99456	0.96256	D	AEFBI	0.873692	0.79619	D	0.100524658377244	0.46485	2.888287	0.32136463555838	0.56798	3.843655	0.999999999999868	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	9.567000	0.97303	11.883000	0.98886	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.567	0.95391	130	0.94779	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	663.75	81	chr5	36976312	.	G	C	663.75	.	AC=8;AF=0.333;AN=24;BaseQRankSum=-3.011e+00;DP=2556;ExcessHet=3.5521;FS=235.068;InbreedingCoeff=-0.4165;MLEAC=11;MLEAF=0.458;MQ=60.00;MQRankSum=0.00;QD=0.62;ReadPosRankSum=0.981;SOR=11.906	GT:AD:DP:GQ:PL	0/1:92,39:131:21:21,0,1436	4	0	8	9
chr5	37058991	37058991	G	A	exonic	NIPBL	.	nonsynonymous SNV	NIPBL:NM_015384:exon44:c.G7511A:p.R2504Q	Cornelia de Lange syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.918	P	0.275	B	0.000	D	0.998	D	1.1	L	-1.25	T	0.213	D	0.663	D	0.454	2.839	15.46	5.85	2.767	4.633	20.154	0.103	0.0787099837387	.	0.000399361	8.238e-06	0	0	0	0	0	0	6.056e-05	1.94e-05	3	154602	rs578001374	6.841e-06	6.84e-06	4.084e-06	9.625e-06	5.797e-05	3.46e-06	2.52e-06	2.194e-05	1.43e-05	0	2.236e-05	0	2.519e-05	0	0	2.698e-06	0	5.797e-05	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	7.293e-05	3.03e-05	0	0	0	0	0	0	0	0	0	0.0004	0.361	0.55530	T	0.402	0.46862	T	0.867	0.50838	P	0.142	0.40079	B	0.000002	0.62929	D	0.055126	0.998479	0.44966	D	1.995	0.54099	M	-3.15	0.92938	D	0.2	0.23156	N	0.451	0.48872	0.213	0.86130	D	0.663	0.88306	D	10	0.13634625	0.25942	T	0.07871	0.73068	D	0.378	0.69612	0.227	0.15257	0.779907992592	0.77787	0.29460288646941607	0.29373	1.47017039982	0.86521	0.670656859875	0.62932	T	0.098875	0.40313	T	0.0248485	0.55033	T	-0.0205554	0.68992	D	0.213399135300346	0.21130	T	0.90061	0.65471	D	0.103698164	0.24510	0.11813455	0.28518	0.103698164	0.24510	0.11813455	0.28517	-5.36	0.40833	T	0.3153050473217691	0.41333	0.114	0.49167	B	.;.;.	.;.;.	4.709483	0.75645	26.4	0.99451374972602435	0.65274	0.94701	0.62033	D	AEFBI	0.516410	0.54295	D	0.259744446841759	0.54124	3.578652	0.391168580316059	0.61019	4.296419	0.999994949390538	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.85	5.85	0.93663	4.686000	0.61388	11.896000	0.99222	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.154	0.98100	128	0.94857	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1627.98	33	chr5	37058991	.	G	A	1627.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.15;DP=853;ExcessHet=0.0000;FS=3.100;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=-1.280e-01;SOR=1.003	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1188	20	0	1	0
chr5	37120282	37120282	A	T	exonic	CPLANE1	.	nonsynonymous SNV	CPLANE1:NM_023073:exon49:c.T9082A:p.S3028T	.	.	0	1521	1	0	0	1	0.000328623	.	.	1657961	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.04	D	0.664	P	0.131	B	0.717	N	1.000	N	2.075	M	0.83	T	-1.006	T	0.093	T	0.094	2.387	13.94	-1.99	-0.276	0.123	3.192	0.051	0.0108716918207	.	0.00139776	0.0005	0	0	0	0	0	0	0.0039	0.0004722	73	154602	rs545791930	0.0002	0.0002	0.0001	0.0003	0.0035	0.0002	0.0002	0.0031	0.0030	0	2.408e-05	0	0	0	0	0	0.0003	0.0035	0.0001	0.0001	0.0001	0.0002	0.0043	9.735e-05	8.251e-05	0.0029	0.0024	0	0	0	0	0	0	0	0	0.0005	0.0043	0.018	0.53172	D	0.067	0.44302	T	.	.	.	.	.	.	0.716876	0.09968	N	0.859817	1	0.08975	N	.	.	.	0.83	0.47815	T	-1.06	0.31170	N	0.17	0.18103	-1.0056	0.28277	T	0.093	0.35498	T	10	0.0061656535	0.00139	T	0.010872	0.27894	T	0.051	0.14325	.	.	0.314417295294	0.31040	0.27357749138738846	0.27270	0.111390099725	0.12571	.	.	.	0.014212	0.17609	T	-0.576666	0.00202	T	-0.603538	0.12516	T	0.0254323790180098	0.01330	T	0.222078	0.02867	T	0.09497794	0.22342	0.049800336	0.07685	0.09497794	0.22342	0.049800336	0.07685	-3.869	0.21839	T	0.2638972943447867	0.35596	0.095	0.15115	B	.;.;.	.;.;.	0.697193	0.10657	7.357	0.62999096245703545	0.07108	0.03923	0.09312	N	AEFBCI	0.035491	0.04577	N	-0.927111906876468	0.10211	0.486894	-1.05628892616923	0.08576	0.4223316	0.98064689851648	0.30160	0.651	0.46895	0	0.588066	0.40923	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.21	-1.99	0.07047	0.195000	0.16960	-0.053000	0.12521	-0.050000	0.17177	0.003000	0.16062	0.000000	0.08366	0.002000	0.04165	0.4314:0.0:0.2601:0.3084	3.192	0.06226	146	0.94180	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	951.98	34	chr5	37120282	.	A	T	951.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.010e+00;DP=800;ExcessHet=0.0000;FS=1.675;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=0.960;SOR=0.603	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1248	20	0	1	0
chr5	37125321	37125321	T	C	exonic	CPLANE1	.	nonsynonymous SNV	CPLANE1:NM_023073:exon46:c.A8719G:p.R2907G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	0.971	D	2.395	M	0.23	T	-0.257	T	0.368	T	0.91	4.512	24.3	4.9	1.096	2.431	10.181	0.474	0.0834906531228	.	.	8.237e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs756716882	1.163e-05	1.163e-05	9.529e-06	1.375e-05	0.0002	7.09e-06	5.79e-06	7.998e-05	6.236e-05	2.988e-05	0	0	0	0	0.0002	8.993e-07	3.312e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.970623	0.38812	D	.	.	.	0.23	0.59717	T	-4.19	0.76900	D	0.805	0.83678	-0.2567	0.76177	T	0.368	0.72818	T	10	0.6389713	0.68946	D	0.083491	0.74126	D	0.474	0.76685	.	.	0.700665027766	0.69807	0.3080678734628117	0.30719	0.646601930215	0.58067	.	.	.	0.245975	0.61537	T	0.12146	0.66518	D	0.173361	0.81608	D	0.95480865240097	0.64353	D	0.812919	0.46506	T	0.6454134	0.75119	0.47922027	0.69835	0.6454134	0.75120	0.47922027	0.69836	-7.173	0.55288	T	0.8597731284399424	0.92356	0.637	0.70410	P	.;.;.	.;.;.	4.086436	0.60831	24.3	0.99817722653068097	0.90061	0.76644	0.37606	D	AEFBI	0.296553	0.40637	N	0.575694659893251	0.71658	5.684699	0.530840927984652	0.70075	5.452253	0.999853877691833	0.44174	0.732398	0.92422	0	0.633656	0.55848	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	6.07	4.9	0.63643	2.435000	0.44469	2.463000	0.32863	0.665000	0.62972	1.000000	0.71638	0.998000	0.33993	0.918000	0.45347	0.0:0.0:0.1745:0.8255	10.181	0.42144	144	0.94257	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2025.98	33	chr5	37125321	.	T	C	2025.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.040e-01;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=0.349;SOR=0.643	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr5	37170046	37170046	C	T	exonic	CPLANE1	.	nonsynonymous SNV	CPLANE1:NM_001384732:exon33:c.G6457A:p.V2153I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.003	B	0.036	N	1.000	N	0.345	N	2.12	T	-0.986	T	0.018	T	0.025	0.947	8.861	-10.5	-2.744	-3.747	1.463	0.023	0.00349692539366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.731	0.05567	T	0.581	0.08476	T	.	.	.	.	.	.	0.035872	0.01809	N	2.443350	1	0.08975	N	.	.	.	2.1	0.19990	T	0.01	0.06868	N	0.025	0.00485	-0.9855	0.33711	T	0.018	0.07282	T	10	0.041775078	0.02864	T	0.003497	0.07939	T	0.023	0.04649	.	.	0.139678290688	0.13603	0.10105176826554894	0.10036	0.0968223062356	0.10928	.	.	.	0.003661	0.03070	T	-0.438668	0.01317	T	-0.867892	0.00762	T	0.0333228002209516	0.02524	T	0.347965	0.07682	T	0.01828383	0.00349	0.021377595	0.00191	0.01828383	0.00349	0.021377595	0.00191	-3.336	0.14206	T	0.08680809753495826	0.05035	0.067	0.02609	B	.;.;.	.;.;.	-2.677233	0.00021	0.001	0.3893574839801196	0.02656	0.00386	0.01946	N	AEFGBI	0.019330	0.00662	N	-1.95466604694145	0.00264	0.01133542	-2.05500373447474	0.00233	0.01028304	0.99999871181578	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	5.25	-10.5	0.00234	-3.487000	0.00506	-3.229000	0.02952	-2.859000	0.00171	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1281:0.3175:0.2132:0.3413	1.463	0.02254	138	0.94518	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1355.98	34	chr5	37170046	.	C	T	1355.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.000e-03;DP=824;ExcessHet=0.0000;FS=0.795;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=0.170;SOR=0.586	GT:AD:DP:GQ:PL	0/1:53,52:105:99:1370,0,1404	20	0	1	0
chr5	37183388	37183388	G	T	exonic	CPLANE1	.	nonsynonymous SNV	CPLANE1:NM_001384732:exon26:c.C4793A:p.T1598K	.	.	1	1495	26	0	0	26	0.00862069	.	.	501350	not_provided|Joubert_syndrome_17|CPLANE1-related_disorder	MedGen:C3661900|MONDO:MONDO:0013824,MedGen:C3553264,OMIM:614615,Orphanet:475|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.99	D	0.004	N	1.000	D	0.695	N	-0.54	T	-0.170	T	0.403	T	0.625	5.551	35	5.44	2.551	8.359	19.265	0.372	0.0807419754689	0.0002	0.000998403	0.0016	0	0.0005	0	0	0.0011	0.0033	0.0068	0.0013583	210	154602	rs147588579	0.0009	0.0009	0.0008	0.0011	0.0142	0.0009	0.0009	0.0117	0.0108	0	0.0007	0.0078	5.046e-05	0	0.0142	0.0004	0.0014	0.0060	0.0007	0.0006	0.0006	0.0007	0.0056	0.0005	0.0005	0.0040	0.0034	4.816e-05	0	0.0005	0.0069	0	0	0.0034	0.0005	0.0024	0.0056	0.006	0.65419	D	0.0	0.92824	D	.	.	.	.	.	.	0.004142	0.34057	N	0.135348	0.999693	0.48338	D	.	.	.	-0.54	0.70950	T	-2.66	0.56945	D	0.604	0.62188	-0.1695	0.78440	T	0.403	0.75381	T	10	0.008908778	0.00202	T	0.080742	0.73527	D	0.372	0.69102	.	.	0.719862766231	0.71739	0.5803039146120949	0.57959	0.567737995331	0.53022	.	.	.	0.261604	0.63310	T	-0.221754	0.17756	T	-0.0888375	0.64248	T	0.0432307516442965	0.04280	T	0.70313	0.31322	T	0.37255535	0.58773	0.46635535	0.69036	0.3774249	0.59129	0.46336356	0.68847	-2.85	0.08653	T	0.7843215179378638	0.86376	0.260	0.54961	B	.;.;.	.;.;.	4.583986	0.72443	25.8	0.9920629401552864	0.55442	0.98763	0.86538	D	AEFDGBI	0.866011	0.78530	D	0.702834520102275	0.79819	7.158825	0.741159903415864	0.85495	8.597776	0.999999999955175	0.74766	0.562547	0.31514	0	0.588066	0.40923	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.44	5.44	0.79348	8.872000	0.91982	11.891000	0.99093	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.265	0.93969	139	0.94486	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2740.98	34	chr5	37183388	.	G	T	2740.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=962;ExcessHet=0.0000;FS=1.082;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.50;ReadPosRankSum=8.000e-03;SOR=0.757	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,102,1530	20	0	1	0
chr5	37227803	37227803	G	A	exonic	CPLANE1	.	nonsynonymous SNV	CPLANE1:NM_001384732:exon10:c.C1136T:p.T379M	.	.	5	1513	4	0	0	4	0.00132013	.	.	721448	CPLANE1-related_disorder|Joubert_syndrome_17|not_provided	.|MONDO:MONDO:0013824,MedGen:C3553264,OMIM:614615,Orphanet:475|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.239	B	0.023	B	0.410	U	1.000	N	1.355	L	1.96	T	-1.011	T	0.037	T	0.115	-0.411	2.079	0.784	0.204	1.793	1.386	0.027	.	.	0.00399361	0.0042	0	0	0	0	0.0001	0	0.0110	0.0007374	114	154602	rs373606997	0.0006	0.0006	0.0004	0.0009	0.0106	0.0006	0.0006	0.0100	0.0097	3.169e-05	0	0	0	0	0.0007	6.491e-06	0.0008	0.0106	0.0005	0.0005	0.0003	0.0007	0.0139	0.0004	0.0003	0.0112	0.0102	2.406e-05	0	0	0	0	0	0	2.941e-05	0	0.0139	0.165	0.23271	T	0.153	0.32144	T	.	.	.	.	.	.	0.410227	0.04586	U	1.421320	1	0.08975	N	.	.	.	1.96	0.22270	T	-0.91	0.24460	N	0.106	0.11483	-1.0111	0.26573	T	0.037	0.15943	T	10	0.0038154721	0.00072	T	.	.	.	0.027	0.05988	0.429	0.47680	0.132336055621	0.12781	0.1286853044030707	0.12793	0.134475830949	0.15141	.	.	.	0.013456	0.11635	T	-0.609343	0.00128	T	-0.63866	0.09767	T	0.0125311965811966	0.00208	T	0.532447	0.17709	T	0.013490253	0.00061	0.03347047	0.02247	0.019916056	0.00534	0.041449927	0.04714	-4.88	0.35509	T	0.3861854195403421	0.47995	0.077	0.06387	B	.;.	.;.	1.703970	0.21705	15.31	0.69766548933479	0.09078	0.01611	0.05216	N	AEFGBI	0.035599	0.04609	N	-0.819936223646867	0.12802	0.626364	-0.839993574486302	0.13528	0.7022745	0.25113244534607	0.18681	0.615465	0.37627	0	0.633656	0.55848	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	5.27	0.784	0.17723	1.908000	0.39537	2.737000	0.34433	-0.169000	0.11342	0.040000	0.20979	0.674000	0.26083	0.903000	0.43903	0.3866:0.1404:0.3313:0.1416	1.386	0.02107	153	0.93993	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1056.98	34	chr5	37227803	.	G	A	1056.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.840e-01;DP=797;ExcessHet=0.0000;FS=0.869;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=1.72;SOR=0.532	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr5	37333593	37333593	G	A	exonic	NUP155	.	nonsynonymous SNV	NUP155:NM_001278312:exon13:c.C1388T:p.A463V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.113	B	0.096	B	0.000	D	1.000	D	0.69	N	-1.05	T	-0.683	T	0.288	T	0.523	3.374	17.38	5.52	2.596	7.455	15.088	0.262	0.0181801424549	.	.	0.0001	9.623e-05	0.0003	0	0	0.0001	0	0.0001	9.7e-05	15	154602	rs751958347	8.759e-05	8.961e-05	0.0001	7.428e-05	0.0002	7.49e-05	7.037e-05	7.401e-05	6.8e-05	8.966e-05	8.944e-05	0.0002	0	0	0.0002	8.816e-05	0.0002	6.957e-05	5.922e-05	5.913e-05	7.715e-05	4.043e-05	0.0001	3.081e-05	2.213e-05	2.847e-05	1.859e-05	4.832e-05	0	0.0001	0	0	0	0	7.352e-05	0	0	0.119	0.29554	T	0.096	0.39340	T	0.064	0.26349	B	0.096	0.30313	B	0.000004	0.62929	D	0.103777	0.999917	0.51042	D	1.12	0.28775	L	-1.06	0.76819	T	-1.07	0.27876	N	0.338	0.49055	-0.6831	0.61229	T	0.288	0.65968	T	10	0.17908818	0.33026	T	0.01818	0.40156	T	0.262	0.57482	0.663	0.80098	0.525810096056	0.52226	0.34488207629081485	0.34402	0.159469905242	0.17994	0.668800055981	0.62667	T	0.366325	0.73159	T	-0.107786	0.35135	T	-0.137558	0.60329	T	0.052560068666935	0.05944	T	0.940606	0.77652	D	0.10859211	0.25675	0.11384736	0.27479	0.10859211	0.25675	0.11384736	0.27478	-2.872	0.12554	T	.	.	0.124	0.32804	B	.;.;.	.;.;.	4.615986	0.73244	26.0	0.99594077592543861	0.73807	0.98970	0.89343	D	AEFBI	0.821312	0.74190	D	0.0651177343902202	0.44841	2.750865	0.274639429885081	0.54062	3.572472	0.999999443394343	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.52	5.52	0.82153	7.631000	0.82408	11.575000	0.93308	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.8577:0.1423	15.088	0.71843	174	0.93268	Nucleoporin, Nup133/Nup155-like, N-terminal;.;Nucleoporin, Nup133/Nup155-like, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	905.98	33	chr5	37333593	.	G	A	905.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.598e+00;DP=771;ExcessHet=0.0000;FS=7.417;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=-1.142e+00;SOR=0.200	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1259	20	0	1	0
chr5	37605231	37605231	A	G	exonic	WDR70	.	nonsynonymous SNV	WDR70:NM_001345999:exon9:c.A1019G:p.N340S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.993	D	0.823	P	0.000	D	1.000	D	0.085	N	5.05	T	-0.068	T	0.512	D	0.164	3.767	19.13	4.36	0.938	7.175	11.171	0.136	0.0679611442409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.777e-06	4.104e-06	0	5.592e-06	4.93e-05	6.5e-07	4.4e-07	1.651e-05	9.76e-06	0	0	0	0	0	0	0	0	4.93e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.51248	T	0.169	0.45318	T	0.956	0.65571	P	0.366	0.59197	B	0.000000	0.84330	D	0.000000	0.999985	0.54805	D	-0.06	0.04898	N	5.05	0.86888	T	-1.8	0.43334	N	0.456	0.49328	-0.0684	0.80815	T	0.512	0.81690	D	10	0.3150022	0.48936	T	0.067961	0.70316	D	0.136	0.36778	0.441	0.49648	0.292174397486	0.28832	0.38983816913766306	0.38898	0.348342674058	0.36705	0.622508764267	0.56083	T	0.041915	0.26014	T	0.00638977	0.52532	T	-0.228598	0.51907	T	0.943423748016357	0.61857	D	0.884712	0.60854	D	0.09134641	0.21402	0.061993863	0.12058	0.09134641	0.21402	0.061993863	0.12058	-5.191	0.38850	T	.	.	0.094	0.33504	B	.;.	.;.	3.458602	0.48198	22.6	0.99830556222590283	0.91198	0.99147	0.91920	D	AEI	0.835460	0.75336	D	0.257551704401013	0.54012	3.568059	0.338559426253824	0.57821	3.949417	0.351482451811869	0.19687	0.732398	0.92422	0	0.659464	0.62310	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.51	4.36	0.51643	7.160000	0.77072	6.179000	0.54604	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.9278:0.0:0.0722:0.0	11.171	0.47800	356	0.85138	WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1442.98	38	chr5	37605231	.	A	G	1442.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.174e+00;DP=799;ExcessHet=0.0000;FS=1.823;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.35;ReadPosRankSum=2.04;SOR=0.488	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1189	20	0	1	0
chr5	38407879	38407879	G	T	exonic	EGFLAM	.	nonsynonymous SNV	EGFLAM:NM_182798:exon4:c.G520T:p.A174S	.	.	426	1083	13	0	0	13	0.00596604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	T	0.004	B	0.006	B	0.000	N	1.000	D	-1.01	N	-1.18	T	-1.023	T	0.107	T	0.09	0.982	9.011	2.62	0.619	3.060	2.748	0.180	0.0162415949113	0.0008	0.000399361	0.0004	0	0.0004	0.0001	0	0.0006	0	0.0003	0.0004463	69	154602	rs144280109	0.0004	0.0004	0.0003	0.0004	0.0108	0.0004	0.0004	0.0086	0.0078	0.0004	0.0003	0.0023	0	0	0.0108	0.0003	0.0009	0.0006	0.0004	0.0004	0.0004	0.0003	0.0006	0.0003	0.0003	0.0003	0.0002	4.816e-05	0	0.0006	0.0032	0	0	0.0136	0.0004	0.0009	0.0002	0.634	0.05091	T	0.654	0.06713	T	0.002	0.12183	B	0.003	0.12133	B	0.000052	0.53742	N	0.162320	0.503064	0.81001	D	-0.79	0.01637	N	-1.18	0.78314	T	0.77	0.01949	N	0.259	0.31027	-1.0231	0.22704	T	0.107	0.38979	T	10	0.010558546	0.00234	T	0.016242	0.37399	T	0.180	0.45073	.	.	0.3349148499	0.33108	0.2054628426780773	0.20463	0.083793042556	0.09449	0.48125243187	0.36230	T	0.086423	0.37720	T	-0.391856	0.02617	T	-0.457919	0.26827	T	0.0431086848799144	0.04258	T	0.80472	0.45238	T	0.056799863	0.11223	0.07393864	0.16121	0.056799863	0.11223	0.07393864	0.16121	-7.767	0.63102	D	.	.	0.088	0.11797	B	.;.;.	.;.;.	1.851629	0.23525	16.05	0.82680945385347615	0.14319	0.86212	0.45450	D	AEFBI	0.430607	0.49324	N	-0.610719799446432	0.18622	0.9682474	-0.355318616066524	0.26346	1.454564	0.981228701734756	0.30234	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.53	2.62	0.30337	2.879000	0.48220	3.275000	0.37188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2061:0.0:0.3535:0.4404	2.748	0.04947	845	0.36510	Laminin G domain|Laminin G domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2080.98	34	chr5	38407879	.	G	T	2080.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.105e+00;DP=872;ExcessHet=0.0000;FS=1.888;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=1.01;SOR=0.860	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr5	38418209	38418209	C	A	exonic	EGFLAM	.	nonsynonymous SNV	EGFLAM:NM_182798:exon7:c.C936A:p.D312E	.	.	431	1068	22	1	0	24	0.0111111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.998	D	0.962	D	0.000	D	1.000	D	1.755	L	-1.59	D	0.181	D	0.636	D	0.905	4.489	24.1	5.78	2.718	1.707	15.178	0.645	.	0.0012	0.00219649	0.0030	0	0.0018	0	0.0011	0.0021	0.0055	0.0113	0.0027555	426	154602	rs146754357	0.0016	0.0016	0.0013	0.0020	0.0120	0.0016	0.0015	0.0100	0.0098	5.974e-05	0.0013	0.0057	5.038e-05	0.0009	0.0120	0.0009	0.0021	0.0106	0.0016	0.0016	0.0012	0.0021	0.0125	0.0015	0.0014	0.0099	0.0090	0.0001	0	0.0034	0.0055	0.0002	0.0009	0.0068	0.0014	0.0019	0.0125	0.178	0.50132	T	0.01	0.65728	D	0.987	0.73220	D	0.946	0.70672	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	1.89	0.50145	L	-1.59	0.82076	D	-1.58	0.38151	N	0.934	0.95608	0.181	0.85585	D	0.636	0.87270	D	10	0.012768745	0.00273	T	.	.	.	0.645	0.86536	0.674	0.81200	0.715032251236	0.71253	0.4969246938967574	0.49613	0.471409030193	0.46407	0.60979115963	0.54286	T	0.192579	0.54778	T	-0.00602708	0.50820	T	0.228954	0.84621	D	0.0328081791101915	0.02440	T	0.776822	0.40920	T	0.20550063	0.42694	0.21532542	0.46116	0.20550063	0.42694	0.21532542	0.46115	-5.949	0.45935	T	.	.	0.545	0.66579	A	.;.;.	.;.;.	2.667700	0.34770	19.72	0.99802575147595984	0.88728	0.93766	0.59130	D	AEFDGBI	0.726788	0.67534	D	0.439899094466457	0.63633	4.600774	0.469198159260859	0.65958	4.890156	0.999999999983834	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.78	5.78	0.91418	1.749000	0.37946	1.384000	0.26059	0.595000	0.32841	0.999000	0.42656	0.807000	0.27003	0.574000	0.30748	0.0:0.9307:0.0:0.0693	15.178	0.72618	878	0.29785	Laminin G domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2016.98	38	chr5	38418209	.	C	A	2016.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.510e-01;DP=866;ExcessHet=0.0000;FS=3.705;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=-1.101e+00;SOR=1.009	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1292	20	0	1	0
chr5	38482082	38482082	C	A	exonic	LIFR	.	nonsynonymous SNV	LIFR:NM_001127671:exon20:c.G2807T:p.R936L	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.029	B	0.018	B	0.266	N	1.000	N	0.69	N	0.49	T	-1.027	T	0.093	T	0.141	1.824	12.06	4.29	0.882	0.377	7.936	0.040	0.0153743323694	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781371324	2.761e-06	4.104e-06	2.742e-06	2.78e-06	0.0002	6.5e-07	4.4e-07	3.97e-06	1.48e-06	0	0	0	0	0	0.0002	0	1.673e-05	2.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.25154	T	0.06	0.45744	T	0.029	0.19866	B	0.018	0.18489	B	0.266356	0.15214	N	0.711514	1	0.08975	N	0	0.06538	N	0.49	0.55775	T	0.08	0.06026	N	0.069	0.08646	-1.0274	0.21299	T	0.093	0.35255	T	10	0.048627675	0.04339	T	0.015374	0.36062	T	0.040	0.10527	0.215	0.13498	0.497280371566	0.49363	0.3082765734901032	0.30740	0.10995767528	0.12399	0.210096478462	0.00815	T	0.242494	0.61125	T	-0.288225	0.09815	T	-0.544135	0.17893	T	0.476381212472916	0.31764	T	0.740126	0.35895	T	0.094943166	0.22334	0.07416786	0.16195	0.094943166	0.22334	0.07416786	0.16195	-2.161	0.03855	T	.	.	0.079	0.07697	B	.;.	.;.	1.654865	0.21113	15.05	0.99257719727275473	0.57088	0.12925	0.17561	N	AEFBI	0.141031	0.26309	N	-0.70105733007777	0.15991	0.8108829	-0.619427163182567	0.18994	1.017166	0.989360895067248	0.31802	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	6.06	4.29	0.50359	0.404000	0.20722	-0.071000	0.12298	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.599000	0.31363	0.1312:0.7375:0.0:0.1313	7.936	0.29091	465	0.78421	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1746.98	34	chr5	38482082	.	C	A	1746.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=843;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.20;ReadPosRankSum=1.36;SOR=0.666	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1168	20	0	1	0
chr5	38918993	38918993	G	A	exonic	OSMR	.	nonsynonymous SNV	OSMR:NM_001323505:exon11:c.G1516A:p.V506I	Amyloidosis, primary localized cutaneous, 1, Autosomal dominant	.	0	1519	3	0	0	3	0.000986518	.	.	735103	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.29	T	0.64	P	0.033	B	0.086	N	1.000	N	1.185	L	-0.02	T	-1.016	T	0.103	T	0.194	0.623	7.351	-1.28	-0.209	-0.352	8.750	0.083	0.0174722814501	0.0015	0.000998403	0.0015	0.0009	0.0004	0.0001	0	0.0013	0.0055	0.0041	0.0013519	209	154602	rs147042111	0.0019	0.0019	0.0018	0.0019	0.0048	0.0018	0.0018	0.0044	0.0043	0.0004	0.0003	7.653e-05	5.038e-05	0.0001	0.0014	0.0019	0.0020	0.0048	0.0012	0.0012	0.0014	0.0011	0.0040	0.0011	0.0010	0.0026	0.0022	0.0006	0	0.0007	0	0.0004	0	0.0068	0.0019	0.0009	0.0040	0.427	0.18371	T	0.621	0.41074	T	0.64	0.40395	P	0.033	0.22329	B	0.086384	0.20590	N	0.516722	1	0.08975	N	1.15	0.29295	L	-0.02	0.62918	T	-0.47	0.15178	N	0.205	0.22742	-1.0163	0.24916	T	0.103	0.37994	T	10	0.0042425394	0.00085	T	0.017472	0.39181	T	0.083	0.24192	.	.	0.144782658237	0.14088	0.21885969059294852	0.21801	0.0823980233098	0.09297	0.309908300638	0.11894	T	0.119857	0.44168	T	-0.518608	0.00448	T	-0.51663	0.20636	T	0.00201253571662779	0.00021	T	0.580242	0.21938	T	0.022232696	0.00872	0.021530759	0.00202	0.022232696	0.00872	0.021530759	0.00202	-4.081	0.25009	T	0.11689148382822652	0.10618	0.075	0.11366	B	.;.	.;.	0.000160	0.04284	1.072	0.63398414196313269	0.07213	0.03030	0.07914	N	AEFBI	0.050437	0.08815	N	-0.993391616751877	0.08745	0.4111739	-1.10397046464138	0.07624	0.371582	0.700232167030638	0.22690	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.82	-1.28	0.08834	-0.176000	0.09802	-1.258000	0.05887	-0.822000	0.02949	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.5759:0.0:0.4241:0.0	8.750	0.33769	662	0.61715	Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2002.98	33	chr5	38918993	.	G	A	2002.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.15;DP=876;ExcessHet=0.0000;FS=9.420;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=-2.310e-01;SOR=0.308	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1423	20	0	1	0
chr5	38933380	38933380	C	G	exonic	OSMR	.	nonsynonymous SNV	OSMR:NM_001323505:exon18:c.C2876G:p.P959R	Amyloidosis, primary localized cutaneous, 1, Autosomal dominant	.	1	1361	149	11	0	171	0.0591082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.845	P	0.467	P	0.397	N	1.000	N	1.355	L	1.06	T	-1.018	T	0.066	T	0.191	1.719	11.71	2.64	0.790	0.641	8.229	0.053	.	0.0052	0.00838658	0.0113	0.0013	0.0119	0.0001	0.0029	0.0081	0.0198	0.0388	0.0100775	1558	154602	rs34080825	0.0081	0.0081	0.0068	0.0095	0.0468	0.0080	0.0079	0.0422	0.0404	0.0009	0.0093	0.0258	0.0001	0.0022	0.0468	0.0056	0.0099	0.0408	0.0065	0.0065	0.0060	0.0071	0.0330	0.0062	0.0060	0.0289	0.0273	0.0011	0	0.0092	0.0248	0.0004	0.0040	0.0646	0.0070	0.0095	0.0330	0.061	0.37118	T	0.099	0.38891	T	0.845	0.46707	P	0.467	0.46683	P	0.396557	0.04509	N	1.368040	1	0.08975	N	1.78	0.46185	L	1.06	0.39781	T	-1.96	0.45404	N	0.081	0.05670	-1.0181	0.24334	T	0.066	0.27052	T	10	0.0029414892	0.00047	T	.	.	.	0.053	0.14996	.	.	.	.	0.14100321930981063	0.14023	0.237616639877	0.26298	0.225426003337	0.01647	T	0.135175	0.46684	T	-0.569761	0.00222	T	-0.56263	0.16131	T	0.0126930513815079	0.00213	T	0.326967	0.06756	T	0.039785415	0.05556	0.073263034	0.15901	0.035993196	0.04343	0.073263034	0.15901	-4.86	0.35282	T	.	.	0.086	0.10835	B	.	.	1.366445	0.17758	13.35	0.93641793816937802	0.23520	0.23376	0.22056	N	AEFDGBI	0.077479	0.15610	N	-0.35203401344841	0.27197	1.490269	-0.476864511363895	0.22792	1.23975	0.99880471190545	0.37711	0.614807	0.35715	0	0.588015	0.36545	0	0.616094	0.41390	0	0.636168	0.56350	0	.	.	5.79	2.64	0.30504	0.371000	0.20182	0.714000	0.20960	-0.175000	0.10903	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.7212:0.0:0.2788	8.229	0.30746	261	0.89765	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3718.11	37	chr5	38933380	.	C	G	3718.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.91;DP=1014;ExcessHet=0.1072;FS=8.925;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=0.934;SOR=1.091	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1271	19	0	2	0
chr5	38947281	38947281	T	C	exonic	RICTOR	.	nonsynonymous SNV	RICTOR:NM_001285440:exon32:c.A3442G:p.I1148V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.005	B	0.000	D	1.000	D	0.975	L	0.56	T	-0.957	T	0.118	T	0.192	2.540	14.45	4.69	2.228	5.831	11.333	0.082	0.0170925678962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.428e-06	3.42e-06	4.094e-06	2.755e-06	4.505e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.505e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.482	0.08559	T	0.843	0.03579	T	0.0	0.02946	B	0.005	0.11217	B	0.000000	0.84330	D	0.044001	0.999991	0.58761	D	1.21	0.30464	L	0.55	0.54728	T	-0.44	0.14588	N	0.241	0.27197	-0.9565	0.39825	T	0.118	0.41538	T	10	0.14503619	0.27517	T	0.017093	0.38644	T	0.082	0.23913	0.363	0.36874	0.123314135267	0.11883	0.4418484881593754	0.44101	0.322719168632	0.34454	0.678290426731	0.64023	T	0.060768	0.31476	T	-0.129136	0.31636	T	-0.423272	0.30702	T	0.768729686737061	0.44362	D	0.90321	0.68443	D	0.11075876	0.26176	0.062235177	0.12145	0.11075876	0.26176	0.062235177	0.12145	-3.495	0.16628	T	.	.	0.076	0.06571	B	.;.	.;.	2.853322	0.37674	20.6	0.98652150399654537	0.44206	0.96785	0.70926	D	AEBI	0.611421	0.59988	D	0.0252201160382862	0.43003	2.60195	0.220661417202987	0.50995	3.285987	0.999969899223352	0.48965	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.84	4.69	0.58546	5.813000	0.68876	6.182000	0.54646	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0703:0.0:0.9297	11.333	0.48723	226	0.91233	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1297.98	34	chr5	38947281	.	T	C	1297.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.493e+00;DP=808;ExcessHet=0.0000;FS=2.654;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=1.52;SOR=0.465	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1128	20	0	1	0
chr5	38962920	38962920	G	A	exonic	RICTOR	.	nonsynonymous SNV	RICTOR:NM_001285439:exon17:c.C1522T:p.R508W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.928	D	0.000	D	1.000	D	2.195	M	0.78	T	-0.607	T	0.253	T	0.741	4.548	24.6	4.78	2.880	2.799	11.772	0.251	0.0256190176955	.	.	8.244e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs763305312	3.423e-06	3.42e-06	4.087e-06	2.752e-06	2.523e-05	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	2.523e-05	0	0	2.7e-06	0	1.16e-05	6.579e-06	6.568e-06	1.286e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.004	0.68238	D	0.008	0.67890	D	0.996	0.77913	D	0.777	0.66279	P	0.000000	0.84330	D	0.090092	0.999743	0.50225	D	0.895	0.22405	L	0.78	0.49358	T	-2.43	0.53258	N	0.787	0.80473	-0.6070	0.64528	T	0.253	0.62337	T	10	0.7195091	0.73568	D	0.025619	0.48579	D	0.251	0.56024	0.43	0.47843	0.158540857583	0.15491	0.6955115764410982	0.69492	1.15409774117	0.79310	0.779116392136	0.78794	T	0.396329	0.75499	T	0.0527394	0.58694	T	-0.146534	0.59549	T	0.846880257129669	0.49898	D	0.978602	0.92442	D	0.27717355	0.50776	0.15346147	0.36061	0.27717355	0.50776	0.15346147	0.36060	-6.622	0.51870	T	.	.	0.230	0.46994	B	.;.	.;.	5.562752	0.92150	32	0.99921582688879451	0.98787	0.90110	0.51034	D	AEFDGBI	0.645196	0.62118	D	0.686823933395164	0.78771	6.938772	0.675423547196296	0.80517	7.316381	0.965962863155819	0.28869	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	5.76	4.78	0.60666	2.809000	0.47669	9.573000	0.81014	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.6362:0.3638	11.772	0.51235	226	0.91233	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2141.98	39	chr5	38962920	.	G	A	2141.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.717;DP=885;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=0.343;SOR=0.684	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1184	20	0	1	0
chr5	39137703	39137703	C	T	exonic	FYB1	.	nonsynonymous SNV	FYB1:NM_001243093:exon7:c.G1442A:p.R481K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.002	B	0.569	N	0.999	N	-0.35	N	2.04	T	-0.991	T	0.019	T	0.146	-0.296	2.589	1.6	0.345	-0.047	3.635	0.068	0.00275266817484	.	.	4.463e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs766761379	1.43e-06	1.368e-06	1.411e-06	1.45e-06	1.263e-05	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.275e-07	0	1.263e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.769	0.03461	T	1.0	0.01155	T	0.002	0.09854	B	0.002	0.06944	B	0.569083	0.05469	N	1.259700	0.998619	0.22036	N	.	.	.	2.04	0.20959	T	-0.23	0.10656	N	0.088	0.07673	-0.9910	0.32347	T	0.019	0.07893	T	10	0.0471552	0.03996	T	0.002753	0.05694	T	0.068	0.19811	0.258	0.20002	0.311241185304	0.30733	0.05872010408258015	0.05813	.	.	0.535842180252	0.43858	T	0.058628	0.30895	T	-0.429087	0.01501	T	-0.65053	0.08916	T	0.0374807879448838	0.03241	T	0.542646	0.19087	T	0.04413321	0.07000	0.044969063	0.05946	0.04413321	0.07000	0.044969063	0.05946	-5.938	0.47582	T	.	.	0.064	0.03060	B	.;.;.;.;.	.;.;.;.;.	1.028947	0.14089	10.66	0.83054023485450235	0.14517	0.38721	0.26052	N	AEFGBHCI	0.089390	0.18119	N	-0.744784833827351	0.14776	0.7389013	-0.548859816720632	0.20836	1.124436	0.999999858809718	0.74766	0.533608	0.22052	0	0.61073	0.52368	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	4.48	1.6	0.22686	-0.043000	0.11996	0.783000	0.21499	-0.190000	0.09434	0.977000	0.34929	0.999000	0.35428	0.955000	0.50612	0.1916:0.5933:0.0:0.2151	3.635	0.07684	651	0.62880	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	516.98	33	chr5	39137703	.	C	T	516.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=720;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.02;ReadPosRankSum=0.159;SOR=0.709	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1177	20	0	1	0
chr5	39288783	39288783	C	T	exonic	C9	.	nonsynonymous SNV	C9:NM_001737:exon10:c.G1585A:p.A529T,	C9 deficiency	YES	2	1518	2	0	0	2	0.000658328	.	.	1534602	Age_related_macular_degeneration_15|Complement_component_9_deficiency|not_provided	MONDO:MONDO:0014266,MedGen:C3810042,OMIM:615591|MONDO:MONDO:0013445,MedGen:C3151189,OMIM:613825|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.4	T	0.0	B	0.0	B	0.237	N	1.000	N	-1.04	N	-1.94	D	-0.879	T	0.184	T	0.029	0.292	5.581	-8.51	-0.882	-1.197	3.451	0.234	0.0211203642337	0.0003	0.00159744	0.0005	0.0002	0.0002	0	0	0.0003	0.0011	0.0024	0.0005627	87	154602	rs137891079	0.0007	0.0007	0.0007	0.0007	0.0029	0.0007	0.0007	0.0026	0.0024	5.991e-05	0.0002	0	0	1.872e-05	0.0003	0.0007	0.0009	0.0029	0.0004	0.0004	0.0003	0.0005	0.0033	0.0003	0.0003	0.0021	0.0017	4.818e-05	0	0	0	0	0	0	0.0006	0.0005	0.0033	0.809	0.03044	T	0.742	0.04947	T	0.0	0.02946	B	0.0	0.01387	B	0.237218	0.03558	N	1.454380	1	0.08975	N	-0.84	0.01504	N	-1.94	0.84919	D	-0.2	0.10136	N	0.04	0.01347	-0.8793	0.49817	T	0.184	0.53209	T	10	0.013572186	0.00287	T	0.02112	0.43839	T	0.234	0.53644	.	.	0.455816718377	0.45207	0.34817116393306585	0.34731	0.0324740096755	0.03394	0.24389372766	0.03152	T	0.008154	0.07505	T	-0.569413	0.00223	T	-0.597175	0.13050	T	0.000729340678505016	0.00007	T	0.371363	0.08780	T	0.0839138	0.19398	0.05673301	0.10190	0.0839138	0.19398	0.05673301	0.10189	-4.717	0.33610	T	0.06326907279804357	0.01932	0.068	0.02765	B	.	.	-0.805947	0.01095	0.049	0.4474683766928807	0.03463	0.01386	0.04714	N	AEFI	0.105961	0.21156	N	-1.81941593599529	0.00499	0.02149548	-1.80811251753575	0.00734	0.03269311	0.999210343222786	0.38775	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.79	-8.51	0.00804	-1.191000	0.03164	-0.349000	0.09758	-0.836000	0.02830	0.000000	0.06391	0.000000	0.08366	0.090000	0.17789	0.2368:0.2055:0.0644:0.4932	3.451	0.07066	727	0.54702	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1881.98	37	chr5	39288783	.	C	T	1881.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.601e+00;DP=853;ExcessHet=0.0000;FS=2.867;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=0.103;SOR=0.484	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr5	40716416	40716416	G	A	exonic	TTC33	.	nonsynonymous SNV	TTC33:NM_012382:exon5:c.C518T:p.T173M,	.	.	.	.	.	.	.	.	.	.	.	2199364	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.923	P	0.118	B	0.017	N	0.963	N	1.245	L	1.44	T	-1.100	T	0.050	T	0.155	1.971	12.55	2.86	0.267	1.639	15.159	0.033	0.00858945805288	7.7e-05	0.000199681	8.337e-05	0	0	0.0009	0	3.035e-05	0	0	7.12e-05	11	154602	rs139388593	2.668e-05	2.668e-05	2.723e-05	2.613e-05	0.0007	1.998e-05	1.754e-05	0.0005	0.0004	0	2.236e-05	0	0.0007	1.883e-05	0.0002	2.698e-06	8.279e-05	0	7.88e-05	9.187e-05	7.71e-05	8.058e-05	0.0017	4.494e-05	3.51e-05	0.0009	0.0007	0	0	0	0	0.0017	0	0	2.94e-05	0.0005	0	0.066	0.36113	T	0.064	0.44905	T	0.923	0.51194	P	0.118	0.32088	B	0.017235	0.27776	N	0.436514	0.963476	0.26023	N	1.445	0.36358	L	1.44	0.32722	T	-0.89	0.24026	N	0.158	0.16447	-1.1001	0.04079	T	0.050	0.21456	T	10	0.026197046	0.00792	T	0.008589	0.22705	T	0.033	0.08068	.	.	0.360961692134	0.35713	0.4446024196313478	0.44378	0.394364968837	0.40593	0.358500361443	0.19166	T	0.021691	0.16847	T	-0.501077	0.00564	T	-0.533072	0.18980	T	0.0995989183324289	0.12314	T	0.923008	0.71997	D	0.034714743	0.03949	0.049858134	0.07707	0.034714743	0.03949	0.049858134	0.07706	-4.044	0.24460	T	.	.	0.077	0.06295	B	.	.	3.105268	0.41865	21.4	0.95572497278462543	0.27267	0.54664	0.29671	D	AEFGBCI	0.172623	0.29967	N	-0.0751587922603628	0.38486	2.254709	-0.0585541123698132	0.37121	2.169358	0.969711619195753	0.29150	0.743674	0.98306	0	0.653731	0.59785	0	0.630245	0.45026	0	0.691587	0.68394	0	.	.	5.8	2.86	0.32427	1.700000	0.37434	6.154000	0.54239	0.676000	0.76740	0.973000	0.34540	1.000000	0.68203	0.904000	0.43992	0.0:0.0:0.3189:0.6811	15.159	0.72449	329	0.86514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1698.98	34	chr5	40716416	.	G	A	1698.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.86;DP=818;ExcessHet=0.0000;FS=2.265;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.17;ReadPosRankSum=1.64;SOR=0.938	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1137	20	0	1	0
chr5	40841489	40841489	G	A	exonic	CARD6	.	nonsynonymous SNV	CARD6:NM_032587:exon1:c.G107A:p.R36Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.99	D	0.688	P	0.048	N	0.995	N	1.7	L	1.97	T	-1.072	T	0.063	T	0.245	2.241	13.45	1.25	0.045	0.444	6.952	0.050	0.00566512691996	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs201004616	1.163e-05	1.163e-05	1.089e-05	1.238e-05	0.0002	7.08e-06	5.79e-06	8.1e-06	6.42e-06	2.987e-05	0	0	0	0	0.0002	1.349e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.33418	T	0.0	0.92824	D	0.99	0.63424	D	0.688	0.53700	P	0.048399	0.23256	N	0.369280	0.998464	0.23345	N	1.81	0.47622	L	1.97	0.22067	T	-1.17	0.50666	N	0.154	0.15888	-1.0723	0.08915	T	0.063	0.26244	T	10	0.12252736	0.23245	T	0.005665	0.14651	T	0.050	0.13987	0.636	0.77251	0.326074293725	0.32213	0.08319603841490657	0.08253	0.0619690882776	0.06898	0.216292500496	0.01107	T	0.007685	0.22992	T	-0.190438	0.22193	T	-0.511327	0.21179	T	0.715730786323547	0.41483	D	0.737626	0.35895	T	0.09713716	0.22893	0.10151333	0.24303	0.09713716	0.22892	0.10151333	0.24302	-5.77	0.44312	T	.	.	0.089	0.13315	B	.;.	.;.	2.897462	0.38389	20.7	0.99143172222696763	0.53600	0.05295	0.11141	N	ALL	0.061925	0.11872	N	-0.341985303365394	0.27568	1.513544	-0.488941176288792	0.22456	1.219866	0.999999999999984	0.74766	0.441713	0.08003	0	0.218748	0.04544	0	0.449817	0.06638	2	0.56214	0.19341	0	.	.	4.97	1.25	0.20475	0.759000	0.26127	0.798000	0.21632	-0.106000	0.15538	0.089000	0.22556	0.003000	0.18671	0.925000	0.46118	0.3744:0.0:0.6256:0.0	6.952	0.23732	457	0.78953	CARD domain|CARD domain|CARD domain;CARD domain|CARD domain|CARD domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1049.98	34	chr5	40841489	.	G	A	1049.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.442;DP=789;ExcessHet=0.0000;FS=2.976;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.80;ReadPosRankSum=0.766;SOR=0.428	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1351	20	0	1	0
chr5	40852672	40852672	T	C	exonic	CARD6	.	nonsynonymous SNV	CARD6:NM_032587:exon3:c.T1340C:p.L447P,	.	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	D	1.000	D	1.725	L	2.27	T	-1.077	T	0.098	T	0.956	1.375	10.53	5.38	2.261	6.461	13.392	0.429	0.012432885817	.	0.000199681	9.895e-05	9.625e-05	0.0003	0	0	9.004e-05	0	0.0001	0.0001229	19	154602	rs143022216	0.0001	0.0001	0.0001	0.0001	0.0066	0.0001	0.0001	0.0049	0.0044	0.0002	0.0003	0	2.519e-05	0	0.0066	8.723e-05	0.0003	0.0002	0.0002	0.0002	0.0001	0.0003	0.0010	0.0002	0.0001	0.0006	0.0005	4.808e-05	0	0.0010	0	0	0	0.0068	0.0002	0	0.0002	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.998	0.88582	D	0.000422	0.44522	D	0.000000	1	0.81001	D	2.27	0.64531	M	2.27	0.17431	T	-5.98	0.89334	D	0.867	0.86404	-1.0765	0.08043	T	0.098	0.36677	T	10	0.6851915	0.71519	D	0.012433	0.30996	T	0.429	0.73590	.	.	0.415055319159	0.41122	0.7552021941774799	0.75467	0.249479662165	0.27528	0.438466489315	0.30368	T	0.170054	0.51765	T	0.00419462	0.52231	T	0.0742255	0.75193	D	0.214120922741859	0.21166	T	0.437256	0.12012	T	0.899575	0.91345	0.88316613	0.93784	0.899575	0.91346	0.88316613	0.93784	-8.8	0.66400	D	.	.	0.255	0.48928	B	.	.	2.917260	0.38715	20.8	0.98911227897141518	0.48381	0.87934	0.47649	D	AEFBI	0.765485	0.70196	D	0.437832267151663	0.63516	4.586854	0.337237355742674	0.57743	3.941146	0.999999998517306	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.38	5.38	0.77279	6.830000	0.75110	7.179000	0.57745	0.665000	0.62972	0.898000	0.31380	0.999000	0.35428	0.509000	0.29221	0.0:0.0:0.0:1.0	13.392	0.60274	480	0.77422	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	4548.11	34	chr5	40852672	.	T	C	4548.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.817e+00;DP=1009;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.74;ReadPosRankSum=0.295;SOR=0.695	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1024	19	0	2	0
chr5	40854194	40854194	C	G	exonic	CARD6	.	nonsynonymous SNV	CARD6:NM_032587:exon3:c.C2862G:p.H954Q,	.	.	419	1097	6	0	0	6	0.00272727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.004	B	0.004	B	0.713	N	1.000	N	0.255	N	-3.87	D	-0.348	T	0.535	D	0.09	0.590	7.183	-5.02	-0.814	-2.333	1.629	0.152	0.0394264508397	.	0.000199681	0.0001	9.623e-05	0.0003	0	0	0.0001	0	0.0001	0.0001294	20	154602	rs201446776	0.0001	0.0001	0.0001	0.0001	0.0066	0.0001	0.0001	0.0049	0.0044	0.0002	0.0003	0	2.519e-05	0	0.0066	9.083e-05	0.0003	0.0001	0.0002	0.0002	0.0001	0.0003	0.0010	0.0002	0.0001	0.0006	0.0005	4.81e-05	0	0.0010	0	0	0	0.0068	0.0002	0	0.0002	0.241	0.17643	T	0.433	0.13595	T	0.004	0.12183	B	0.004	0.10090	B	0.712547	0.10001	N	0.848917	1	0.08975	N	0.06	0.08197	N	-3.87	0.95922	D	-1.35	0.33598	N	0.081	0.05670	-0.3481	0.73608	T	0.535	0.82781	D	10	0.017871916	0.00384	T	0.039426	0.58802	D	0.152	0.39956	0.191	0.10171	0.336400405673	0.33241	0.08653269121019383	0.08587	0.027603009662	0.02824	0.282833516598	0.07891	T	0.001253	0.00742	T	-0.289981	0.09637	T	-0.348337	0.39396	T	0.00617309077308871	0.00068	T	0.469553	0.13876	T	0.03169919	0.03057	0.03542567	0.02792	0.03169919	0.03056	0.03542567	0.02792	-3.537	0.16954	T	.	.	0.135	0.29200	B	.	.	-0.622202	0.01512	0.096	0.59612998613800361	0.06265	0.01843	0.05707	N	AEFGBI	0.063454	0.12262	N	-1.43227389727204	0.02360	0.1041202	-1.49319357418328	0.02399	0.1102996	0.999954185858649	0.48110	0.706548	0.73137	0	0.588015	0.36545	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	4.38	-5.02	0.02759	-1.546000	0.02292	-1.552000	0.05187	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.127:0.1765:0.2745:0.4219	1.629	0.02565	479	0.77495	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2977.98	34	chr5	40854194	.	C	G	2977.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.321;DP=942;ExcessHet=0.0000;FS=0.488;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=1.08;SOR=0.641	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1024	20	0	1	0
chr5	40945369	40945369	G	T	splicing	C7	NM_000587:exon7:c.738+1G>T	.	.	C7 deficiency	.	.	.	.	.	.	.	.	1.0000	0.808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.193	9.848	4.74	2.633	3.350	13.421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.58e-06	6.569e-06	1.286e-05	0	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.402832	0.90465	31	0.98732631747622668	0.45378	0.92436	0.55708	D	AEFI	.	.	.	0.86627520560063	0.90014	10.21552	0.653411971661367	0.78863	6.963035	0.147871118436629	0.17390	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.950476	0.61971	4.74	4.74	0.59717	3.562000	0.53522	9.425000	0.80773	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.490000	0.28791	0.0:0.0:1.0:0.0	13.421	0.60447	505	0.75648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1238.98	33	chr5	40945369	.	G	T	1238.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=765;ExcessHet=0.0000;FS=2.230;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.21;ReadPosRankSum=1.06;SOR=1.063	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1191	20	0	1	0
chr5	41000303	41000303	C	T	exonic	MROH2B	.	nonsynonymous SNV	MROH2B:NM_173489:exon39:c.G4399A:p.E1467K,	.	.	.	.	.	.	.	.	.	.	.	2360823	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.82	T	0.038	B	0.047	B	0.012	N	0.856	N	1.545	L	-0.16	T	-0.916	T	0.191	T	0.5	2.981	15.94	5.99	2.840	3.549	15.978	0.188	0.0133863094831	0.0003	.	6.645e-05	0.0007	0	0	0	0	0	6.063e-05	5.17e-05	8	154602	rs199956857	1.71e-05	1.71e-05	1.225e-05	2.201e-05	0.0005	1.174e-05	9.92e-06	0.0003	0.0002	0.0005	0	0	0	0	0.0002	0	8.282e-05	3.478e-05	5.259e-05	5.254e-05	7.71e-05	2.692e-05	0.0002	2.558e-05	1.831e-05	7.895e-05	5.59e-05	0.0002	0	6.55e-05	0	0	0	0	0	0	0	0.109	0.29288	T	0.03	0.54934	D	0.038	0.21002	B	0.047	0.24832	B	0.011754	0.29415	N	0.291885	0.889364	0.28424	N	0.915	0.23335	L	-0.16	0.65378	T	-1.35	0.33598	N	0.466	0.51761	-0.9157	0.46129	T	0.191	0.54330	T	10	0.12809941	0.24366	T	0.013386	0.32756	T	0.188	0.46444	.	.	0.152612264143	0.14878	0.3442973030833649	0.34343	0.026477229634	0.02702	0.538637280464	0.44254	T	0.024619	0.18566	T	-0.293206	0.09317	T	-0.301463	0.44571	T	0.038754137959092	0.03466	T	0.829717	0.49530	T	0.1614194	0.36150	0.111151345	0.26809	0.1614194	0.36150	0.111151345	0.26809	-5.598	0.42774	T	.	.	0.249	0.54689	B	.;.	.;.	2.717053	0.35533	19.92	0.99760713827315362	0.85011	0.86532	0.45832	D	AEFDBI	0.278721	0.39294	N	-0.101497036247645	0.37328	2.170115	0.08372936450353	0.43731	2.668816	0.986906093342122	0.31148	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.99	5.99	0.97299	2.439000	0.44504	5.947000	0.51581	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.137000	0.19835	0.0:1.0:0.0:0.0	15.978	0.79875	510	0.75209	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1659.98	41	chr5	41000303	.	C	T	1659.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.316e+00;DP=914;ExcessHet=0.0000;FS=3.773;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.85;ReadPosRankSum=-9.400e-01;SOR=0.452	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr5	41912121	41912121	C	T	exonic	C5orf51	.	nonsynonymous SNV	C5orf51:NM_175921:exon5:c.C539T:p.P180L,	.	.	436	1082	4	0	0	4	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.964	D	0.000	D	1.000	D	0.975	L	-1.74	D	0.173	D	0.524	D	0.854	5.005	29.4	5.84	2.767	4.401	18.338	0.685	.	0.0042	0.00159744	0.0050	0.0012	0.0053	0	0.0036	0.0072	0.0132	0.0010	0.0047541	735	154602	rs151191974	0.0058	0.0059	0.0059	0.0057	0.0075	0.0057	0.0056	0.0068	0.0065	0.0007	0.0075	0.0011	0	0.0033	0.0007	0.0067	0.0051	0.0016	0.0050	0.0050	0.0051	0.0050	0.0107	0.0047	0.0046	0.0093	0.0088	0.0017	0.0055	0.0107	0.0012	0	0.0037	0	0.0068	0.0080	0.0002	0.003	0.68238	D	0.008	0.67890	D	0.999	0.77913	D	0.964	0.71005	D	0.000001	0.84330	D	0.058585	0.999998	0.58761	D	2.085	0.57729	M	-1.74	0.83413	D	-7.51	0.95074	D	0.537	0.56489	0.173	0.85444	D	0.524	0.82249	D	10	0.016008139	0.00336	T	.	.	.	0.685	0.88490	.	.	0.942472317338	0.94187	0.3411874316836194	0.34031	0.589548075599	0.54450	.	.	.	0.246841	0.61638	T	4.70544e-06	0.51654	T	0.232921	0.84812	D	0.0491293605087723	0.05347	T	0.854015	0.53996	D	0.62123597	0.73829	0.6036091	0.76963	0.62123597	0.73831	0.6036091	0.76964	-3.422	0.15354	T	.	.	0.657	0.71205	P	.	.	4.571923	0.72147	25.8	0.99874428421644668	0.95160	0.98084	0.79462	D	AEFBI	0.543319	0.55869	D	0.634205633585724	0.75350	6.290408	0.673359997635072	0.80361	7.281796	0.99999999997601	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.608884	0.39905	0	0.727631	0.95156	0	.	.	5.84	5.84	0.93373	3.514000	0.53179	7.660000	0.64180	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.338	0.90239	412	0.82007	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1638.98	116	chr5	41912121	.	C	T	1638.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=803;ExcessHet=0.0000;FS=2.378;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=0.447;SOR=0.495	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1105	20	0	1	0
chr5	42699919	42699919	C	T	exonic	GHR	.	nonsynonymous SNV	GHR:NM_001242460:exon4:c.C469T:p.R157C	Growth hormone insensitivity, partial;Increased responsiveness to growth hormone (3);Laron dwarfism, Autosomal recessive	.	0	1509	13	0	0	13	0.00428901	.	.	23676	not_specified|Laron-type_isolated_somatotropin_defect|Short_stature_due_to_growth_hormone_secretagogue_receptor_deficiency|Short_stature_due_to_partial_GHR_deficiency|Hypercholesterolemia,_familial,_1|not_provided|GHR-related_disorder	MedGen:CN169374|MONDO:MONDO:0009877,MedGen:C0271568,OMIM:262500,Orphanet:633|MONDO:MONDO:0014403,MedGen:C4707848,OMIM:615925,Orphanet:314811|MONDO:MONDO:0011420,MedGen:C1858656,OMIM:604271,Orphanet:314802,Orphanet:314811|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.717	P	0.171	B	0.000	D	1.000	A	1.385	L	-3.4	D	0.170	D	0.547	D	0.726	2.910	15.70	3.19	0.403	1.257	9.312	0.609	0.115468224968	0.0056	0.00139776	0.0041	0.0012	0.0021	0	0.0023	0.0059	0.0077	0.0027	0.0041526	642	154602	rs121909362	0.0046	0.0047	0.0047	0.0046	0.0053	0.0045	0.0045	0.0052	0.0051	0.0011	0.0030	0.0018	2.527e-05	0.0034	0.0024	0.0053	0.0040	0.0030	0.0040	0.0040	0.0039	0.0041	0.0076	0.0038	0.0037	0.0065	0.0060	0.0010	0.0011	0.0076	0.0009	0	0.0023	0.0068	0.0060	0.0033	0.0027	0.0	0.91255	D	0.0	0.92824	D	0.717	0.42239	P	0.171	0.35348	B	0.000003	0.62929	D	0.105237	0.0568931	0.81001	A	1.04	0.26193	L	-3.4	0.94260	D	-0.79	0.21860	N	0.649	0.72567	0.170	0.85394	D	0.547	0.83388	D	9	0.085534275	0.14449	T	0.115468	0.79465	D	0.609	0.84666	.	.	0.980862896875	0.98065	0.6824506315988559	0.68184	0.0607989214679	0.06768	0.266834557056	0.05732	T	0.459716	0.79719	T	-0.0783641	0.39981	T	0.117132	0.78045	D	0.0470354036716266	0.04971	T	0.793521	0.43550	T	0.7133288	0.78791	0.26592335	0.52431	0.6499371	0.75362	0.36667204	0.61992	-9.204	0.69000	D	0.2636075541560013	0.35561	0.226	0.49865	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.471068	0.31848	18.87	0.99529260467720693	0.69777	0.82051	0.41339	D	AEFI	0.569677	0.57436	D	-0.0343289700656994	0.40305	2.391333	0.0119569775514906	0.40270	2.400541	0.00146348285875886	0.08559	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.91	3.19	0.35720	1.304000	0.33087	-0.175000	0.11188	-0.194000	0.09177	0.592000	0.27682	0.000000	0.08366	0.982000	0.59238	0.0:0.7495:0.1203:0.1302	9.312	0.37072	495	0.76383	Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2068.98	33	chr5	42699919	.	C	T	2068.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.110e-01;DP=805;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.69;ReadPosRankSum=1.14;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,105,1235	20	0	1	0
chr5	42711274	42711274	G	A	exonic	GHR	.	nonsynonymous SNV	GHR:NM_001242460:exon5:c.G620A:p.R207H	Growth hormone insensitivity, partial;Increased responsiveness to growth hormone (3);Laron dwarfism, Autosomal recessive	.	1	1499	22	0	0	22	0.00728477	.	.	265893	Laron-type_isolated_somatotropin_defect|not_specified|Short_stature_due_to_partial_GHR_deficiency|not_provided	MONDO:MONDO:0009877,MedGen:C0271568,OMIM:262500,Orphanet:633|MedGen:CN169374|MONDO:MONDO:0011420,MedGen:C1858656,OMIM:604271,Orphanet:314802,Orphanet:314811|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.21	T	0.999	D	0.703	P	0.000	D	1.000	D	1.845	L	-3.02	D	0.668	D	0.814	D	0.9	5.075	31	5.21	2.405	4.538	18.767	0.808	0.0891640989754	0.0011	0.000798722	0.0013	0.0007	0.0013	0	0	0.0011	0.0022	0.0038	0.0011966	185	154602	rs6177	0.0008	0.0009	0.0007	0.0010	0.0080	0.0008	0.0008	0.0062	0.0055	0.0009	0.0014	0.0015	0	0	0.0080	0.0006	0.0016	0.0035	0.0008	0.0008	0.0007	0.0009	0.0017	0.0007	0.0006	0.0008	0.0006	0.0006	0.0011	0.0010	0.0023	0	9.427e-05	0.0102	0.0008	0.0024	0.0017	0.0	0.91255	D	0.318	0.76473	T	0.999	0.77913	D	0.703	0.54270	P	0.000004	0.62929	D	0.059628	1	0.81001	D	1.8	0.47472	L	-3.4	0.94260	D	-2.04	0.46842	N	0.533	0.63883	0.668	0.92766	D	0.814	0.93719	D	10	0.017771393	0.00381	T	0.089164	0.75273	D	0.808	0.93777	.	.	0.962138920921	0.96173	0.5664631436302645	0.56574	0.0555361329645	0.06140	0.433992952108	0.29755	T	0.410939	0.76553	T	0.124364	0.66809	D	0.404074	0.92243	D	0.0636626687296192	0.07732	T	0.977402	0.93081	D	0.6612151	0.75964	0.4502998	0.68010	0.6490725	0.75316	0.49604318	0.70857	-10.171	0.74929	D	0.5075309644939106	0.58176	0.183	0.48551	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.881359	0.80062	27.2	0.99934152013492705	0.99535	0.94192	0.60392	D	AEFI	0.757768	0.69662	D	0.565633455196316	0.71040	5.590686	0.577758325565778	0.73350	5.955826	0.999580486071164	0.40607	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.21	5.21	0.72005	4.957000	0.63358	7.492000	0.59381	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91844	496	0.76301	Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1435.98	41	chr5	42711274	.	G	A	1435.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.00;DP=837;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=-8.440e-01;SOR=0.728	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1222	20	0	1	0
chr5	42801176	42801176	T	C	exonic	SELENOP	.	unknown	UNKNOWN,	.	.	412	1104	6	0	0	6	0.00271003	.	.	709928	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0084	0.00898562	0.0023	0.0279	0.0003	0	0	1.498e-05	0.0044	0	0.0022962	355	154602	rs28919922	0.0009	0.0009	0.0010	0.0007	0.0331	0.0008	0.0008	0.0315	0.0309	0.0331	0.0009	0	0	0	0.0007	2.248e-05	0.0019	8.115e-05	0.0082	0.0082	0.0085	0.0079	0.0288	0.0078	0.0077	0.0274	0.0269	0.0288	0	0.0023	0	0	0	0.0034	1.47e-05	0.0062	0.0002	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017680526	0.00023	T	.	.	.	.	.	.	.	0.178374595973	0.17440	.	.	.	.	.	.	.	.	.	.	-0.730964	0.00024	T	-0.800443	0.01891	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.509370	0.08783	5.559	0.88754793951829014	0.18228	0.09519	0.15257	N	AEFGBHCI	0.120013	0.23398	N	.	.	.	.	.	.	0.978201554285044	0.29898	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.74	-1.76	0.07574	-1.456000	0.02483	-1.642000	0.05002	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.981000	0.58702	0.1184:0.173:0.4446:0.264	3.113	0.05982	412	0.82007	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1611.98	41	chr5	42801176	.	T	C	1611.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.618e+00;DP=878;ExcessHet=0.0000;FS=2.362;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=0.133;SOR=0.489	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr5	44809331	44809331	-	GAGCCC	exonic	MRPS30	.	nonframeshift insertion	MRPS30:NM_016640:exon1:c.369_370insGAGCCC:p.P135_A136insEP,	.	.	428	1075	19	0	0	19	0.0087598	.	.	2827751	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0054	.	0.0043	0.0008	0.0018	0.0004	0.0009	0.0056	0.0066	0.0057	0.0001423	22	154602	rs779308521	0.0074	0.0074	0.0074	0.0074	0.0239	0.0073	0.0072	0.0207	0.0195	0.0015	0.0023	0.0185	0.0016	0.0010	0.0239	0.0081	0.0061	0.0060	0.0041	0.0041	0.0044	0.0038	0.0066	0.0038	0.0037	0.0056	0.0054	0.0013	0.0044	0.0024	0.0132	0.0016	0.0013	0.0238	0.0061	0.0038	0.0066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3431.94	34	chr5	44809331	.	G	GGAGCCC	3431.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.77;DP=1069;ExcessHet=0.0000;FS=0.575;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.80;ReadPosRankSum=-1.723e+00;SOR=0.616	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,104,1425	20	0	1	0
chr5	44809335	44809335	C	T	exonic	MRPS30	.	nonsynonymous SNV	MRPS30:NM_016640:exon1:c.C373T:p.P125S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.239	B	0.053	B	0.210	U	1.000	N	0.69	N	2.4	T	-1.022	T	0.024	T	0.181	-0.274	2.687	.	0.119	1.750	3.642	0.021	0.0146562358819	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.746	0.03631	T	0.652	0.06690	T	0.239	0.30839	B	0.053	0.25678	B	0.209540	0.03377	U	3.632360	0.999974	0.18612	N	2.43	0.70455	M	2.4	0.15608	T	0.59	0.02558	N	0.282	0.31925	-1.0217	0.23162	T	0.024	0.10419	T	9	0.07285994	0.10931	T	0.014656	0.34921	T	0.021	0.04004	0.368	0.37687	0.101711395817	0.09552	0.2635074086650599	0.26263	0.201567771287	0.22553	0.569377064705	0.48589	T	0.002291	0.01691	T	-0.249906	0.14110	T	-0.596749	0.13085	T	0.0874139516440114	0.10908	T	0.357964	0.08163	T	0.042489205	0.06454	0.07291787	0.15787	0.042489205	0.06453	0.07291787	0.15786	-7.324	0.56366	T	.	.	0.082	0.08851	B	.	.	1.456376	0.18780	13.92	0.93968191318079386	0.24041	0.19874	0.20829	N	ALL	0.071817	0.14312	N	-1.00081714350302	0.08587	0.4031944	-1.09094087189583	0.07878	0.3849769	0.999999999958767	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	.	.	.	0.668000	0.24808	-0.288000	0.10216	0.591000	0.32079	0.320000	0.25502	0.000000	0.08366	0.115000	0.18958	0.0:0.5051:0.4949:0.0	3.642	0.07711	577	0.69927	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2869.98	34	chr5	44809335	.	C	T	2869.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.424;DP=999;ExcessHet=0.0000;FS=0.476;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=2.58;SOR=0.728	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,104,1425	20	0	1	0
chr5	51387699	51387699	C	G	exonic	ISL1	.	nonsynonymous SNV	ISL1:NM_002202:exon3:c.C428G:p.A143G,	.	.	.	.	.	.	.	.	.	.	.	2801872	ISL1-related_disorder	.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.44	T	0.0	B	0.0	B	0.000	D	1.000	D	0.755	N	-1.96	D	-0.488	T	0.403	T	0.169	1.687	11.60	5.41	2.538	2.292	15.508	0.262	0.614569166519	.	.	4.177e-05	0	0	0	0	6.057e-05	0.0011	0	3.23e-05	5	154602	rs747357265	2.873e-05	2.873e-05	2.995e-05	2.75e-05	0.0003	2.151e-05	1.908e-05	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	3.147e-05	3.311e-05	3.478e-05	1.971e-05	1.97e-05	2.568e-05	1.345e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.564	0.06302	T	0.359	0.18732	T	0.0	0.02946	B	0.0	0.01387	B	0.000287	0.46274	D	0.186234	0.999999	0.58761	D	0.83	0.20963	L	-2.04	0.85703	D	-0.51	0.15986	N	0.245	0.27673	-0.4882	0.69072	T	0.403	0.75338	T	10	0.14318481	0.27187	T	0.614569	0.96645	D	0.262	0.57482	0.212	0.13066	0.562687124444	0.55931	0.24523045041225383	0.24437	1.05468595629	0.76285	0.638096928596	0.58293	T	0.260843	0.63226	T	-0.133366	0.30951	T	-0.321691	0.42388	T	0.138291791081429	0.16127	T	0.790621	0.43132	T	0.12577151	0.29475	0.12665023	0.30500	0.12577151	0.29475	0.12665023	0.30499	-3.406	0.15137	T	.	.	0.065	0.03661	B	.;.	.;.	3.123028	0.42171	21.5	0.9882982172539968	0.46936	0.63499	0.32108	D	AEFDBHCI	0.568979	0.57394	D	-0.45968606404068	0.23414	1.257126	-0.323995367597214	0.27325	1.515489	0.999999999991197	0.74766	0.582742	0.33608	0	0.563428	0.19063	0	0.606814	0.37721	0	0.620976	0.48614	0	.	.	5.41	5.41	0.78313	2.335000	0.43588	5.938000	0.51432	0.596000	0.33519	0.152000	0.23684	1.000000	0.68203	0.910000	0.44547	0.0:0.8612:0.1388:0.0	15.508	0.75487	869	0.31655	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1495.98	36	chr5	51387699	.	C	G	1495.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.812e+00;DP=832;ExcessHet=0.0000;FS=0.715;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=-1.692e+00;SOR=0.568	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1341	20	0	1	0
chr5	52918874	52918874	A	G	exonic	ITGA1	.	nonsynonymous SNV	ITGA1:NM_181501:exon16:c.A2131G:p.K711E,	.	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.629	P	0.326	B	0.028	N	0.552	D	0.895	L	0.89	T	-0.990	T	0.076	T	0.623	2.555	14.50	5.51	2.210	3.906	10.303	0.087	0.00570558968817	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1256608619	4.147e-06	4.104e-06	4.122e-06	4.172e-06	2.432e-05	1.49e-06	9.8e-07	4.04e-06	1.51e-06	0	0	0	0	0	0	3.612e-06	0	2.432e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517	0.07330	T	0.949	0.02624	T	0.629	0.40170	P	0.326	0.41929	B	0.027840	0.25696	N	0.471963	0.551645	0.32138	D	2.28	0.64929	M	0.89	0.45636	T	-1.07	0.27876	N	0.254	0.28732	-0.9903	0.32525	T	0.076	0.30553	T	10	0.26649776	0.44155	T	0.005706	0.14772	T	0.087	0.25287	0.392	0.41606	0.594763190098	0.59155	0.4809823666585849	0.48018	0.379006366498	0.39307	0.523798108101	0.42161	T	0.067601	0.33244	T	-0.0509127	0.44307	T	-0.310909	0.43559	T	0.50417560338974	0.32782	D	0.775222	0.40690	T	0.15754578	0.35494	0.14444445	0.34293	0.15754578	0.35493	0.14444445	0.34292	-8.833	0.66615	D	.	.	0.075	0.05668	B	.	.	2.918952	0.38741	20.8	0.99716763960713561	0.81773	0.79860	0.39658	D	AEFI	0.408362	0.48007	N	0.0922065738163957	0.46098	2.855645	0.226681238711263	0.51332	3.31675	0.81345949615901	0.24396	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.51	5.51	0.81769	3.106000	0.50013	11.125000	0.86648	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.9263:0.0:0.0737:0.0	10.303	0.42842	713	0.56348	Integrin alpha-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1413.98	34	chr5	52918874	.	A	G	1413.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.810e-01;DP=793;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=-1.760e+00;SOR=0.685	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1239	20	0	1	0
chr5	52922775	52922775	-	G	splicing	ITGA1	NM_181501:exon18:c.2293-2->G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1916.94	34	chr5	52922775	.	A	AG	1916.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.465e+00;DP=827;ExcessHet=0.0000;FS=2.293;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.09;ReadPosRankSum=-1.633e+00;SOR=0.486	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1273	20	0	1	0
chr5	52945020	52945020	C	A	exonic	ITGA1	.	nonsynonymous SNV	ITGA1:NM_181501:exon27:c.C3363A:p.S1121R,	.	.	444	1057	20	1	0	22	0.0102996	.	.	721474	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.41	T	0.136	B	0.017	B	0.042	N	0.860	N	0.64	N	0.79	T	-1.103	T	0.039	T	0.202	2.011	12.68	0.424	0.381	-0.592	0.543	0.064	.	0.0057	0.00539137	0.0072	0.0012	0.0019	0.0019	0.0127	0.0084	0.0121	0.0102	0.0072056	1114	154602	rs151102756	0.0082	0.0082	0.0080	0.0083	0.0098	0.0080	0.0080	0.0092	0.0090	0.0013	0.0020	0.0023	0.0008	0.0120	0.0052	0.0088	0.0062	0.0098	0.0058	0.0058	0.0057	0.0059	0.0102	0.0055	0.0054	0.0083	0.0081	0.0018	0	0.0012	0.0020	0.0012	0.0108	0	0.0089	0.0038	0.0102	0.208	0.19782	T	0.045	0.49390	D	0.136	0.27347	B	0.017	0.18140	B	0.041512	0.23942	N	0.515513	0.859682	0.28374	N	1.1	0.28011	L	0.79	0.49068	T	-0.81	0.22294	N	0.22	0.24634	-1.1030	0.03747	T	0.039	0.16634	T	10	0.005416006	0.00119	T	.	.	.	0.064	0.18567	0.354	0.35408	0.498259528926	0.49460	0.44795778726247065	0.44713	0.184186325535	0.20715	0.357897281647	0.19079	T	0.054622	0.29777	T	-0.545348	0.00311	T	-0.54817	0.17501	T	0.0266211991136167	0.01491	T	0.652235	0.26282	T	0.07397097	0.16567	0.05098772	0.08114	0.07397097	0.16567	0.05098772	0.08113	-4.82	0.34823	T	.	.	0.217	0.44745	B	.	.	2.001094	0.25425	16.76	0.98561422426639278	0.42986	0.18904	0.20449	N	AEFDBI	0.104861	0.20969	N	-0.54948648376452	0.20500	1.081116	-0.432061412372852	0.24062	1.315583	0.999592032345798	0.40745	0.615465	0.37627	0	0.541556	0.11502	0	0.658983	0.55881	0	0.404113	0.06833	1	.	.	5.63	0.424	0.15684	-0.165000	0.09957	0.386000	0.17834	0.599000	0.40250	0.945000	0.32849	0.993000	0.31925	0.997000	0.79791	0.2824:0.337:0.1371:0.2434	0.543	0.00605	713	0.56348	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2815.11	35	chr5	52945020	.	C	A	2815.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.851;DP=892;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.85;ReadPosRankSum=1.98;SOR=0.729	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1144	19	0	2	0
chr5	53083349	53083349	A	T	exonic	ITGA2	.	nonsynonymous SNV	ITGA2:NM_002203:exon27:c.A3154T:p.T1052S,	.	.	11	1495	16	0	0	16	0.00532269	.	.	304110	not_provided|Platelet-type_bleeding_disorder_9	MedGen:C3661900|MONDO:MONDO:0013622,MedGen:C3280114,OMIM:614200,Orphanet:73271,Orphanet:98886	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.75	T	0.194	B	0.049	B	0.001	D	0.835	N	0.46	N	0.86	T	-1.033	T	0.067	T	0.124	1.015	9.147	4.79	1.080	3.768	10.852	0.038	0.0100717527135	0.0018	0.00119808	0.0017	0.0003	0.0011	0	0.0002	0.0015	0.0011	0.0052	0.0016559	256	154602	rs150997093	0.0015	0.0015	0.0013	0.0017	0.0101	0.0014	0.0014	0.0080	0.0073	0.0002	0.0010	0.0053	0	0.0002	0.0101	0.0012	0.0020	0.0049	0.0013	0.0013	0.0012	0.0014	0.0035	0.0011	0.0011	0.0022	0.0018	0.0004	0	0.0012	0.0046	0	0.0002	0.0034	0.0017	0.0038	0.0035	0.308	0.14111	T	0.711	0.05506	T	.	.	.	.	.	.	0.000528	0.43581	D	0.222198	0.835462	0.28703	N	.	.	.	0.86	0.46777	T	0.12	0.05604	N	0.117	0.10626	-1.0329	0.19522	T	0.067	0.27606	T	10	0.007706195	0.00175	T	0.010072	0.26169	T	0.038	0.09825	0.435	0.48664	0.789854212453	0.78790	0.43204601794977227	0.43121	0.154822667807	0.17480	0.395790934563	0.24483	T	.	.	.	-0.551257	0.00287	T	-0.563665	0.16034	T	0.0125553680293446	0.00208	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10594	B	.	.	1.568344	0.20082	14.58	0.95467588244027402	0.27011	0.93699	0.58939	D	AEFDBI	0.237835	0.36005	N	-0.363103645771931	0.26794	1.465058	-0.185448689973304	0.32070	1.820975	0.999992556846656	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.95	4.79	0.60909	3.155000	0.50398	3.448000	0.38427	0.756000	0.94297	0.999000	0.42656	0.967000	0.29559	0.530000	0.29707	0.9259:0.0:0.0741:0.0	10.852	0.45983	862	0.33134	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1454.98	39	chr5	53083349	.	A	T	1454.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.180e-01;DP=799;ExcessHet=0.0000;FS=0.756;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.99;ReadPosRankSum=0.137;SOR=0.842	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1196	20	0	1	0
chr5	55231488	55231488	C	T	exonic	CCNO	.	nonsynonymous SNV	CCNO:NM_021147:exon3:c.G940A:p.E314K,	Ciliary dyskinesia, primary, 29, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	364039	not_provided|Primary_ciliary_dyskinesia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.72	T	0.0	B	0.0	B	0.022	N	1.000	N	-0.14	N	0.88	T	-1.069	T	0.019	T	0.067	1.488	10.92	1.59	0.009	0.870	17.628	0.111	.	0.0036	0.00539137	0.0010	0.0114	0.0004	0	0	3.022e-05	0	0	0.001022	158	154602	rs114088695	0.0003	0.0003	0.0004	0.0003	0.0120	0.0003	0.0003	0.0111	0.0107	0.0120	0.0006	0	0	0	0.0002	1.888e-05	0.0008	3.478e-05	0.0033	0.0033	0.0036	0.0030	0.0114	0.0031	0.0030	0.0105	0.0102	0.0114	0	0.0012	0	0	0	0	4.41e-05	0.0043	0	0.238	0.17821	T	0.216	0.26226	T	0.0	0.02946	B	0.0	0.01387	B	0.022253	0.26671	N	0.407553	0.999955	0.19072	N	0.205	0.09354	N	0.88	0.46028	T	-0.83	0.22727	N	0.15	0.15328	-1.0688	0.09679	T	0.019	0.08033	T	10	0.0030366778	0.00050	T	.	.	.	0.111	0.31313	.	.	0.420199648628	0.41636	0.28982608643202495	0.28895	0.458711824476	0.45480	0.377266675234	0.21867	T	0.082239	0.36781	T	-0.646891	0.00076	T	-0.691603	0.06297	T	0.00659715699195005	0.00074	T	0.777822	0.41150	T	0.14785519	0.33781	0.16469488	0.38139	0.14785519	0.33781	0.16469488	0.38139	-3.618	0.18118	T	0.16805321199517062	0.20991	0.075	0.05317	B	.	.	1.574538	0.20152	14.61	0.98572812463120818	0.43128	0.54511	0.29634	D	AEFDBHCIJ	0.093273	0.18874	N	-1.22081654133838	0.04699	0.2126212	-1.12234769129828	0.07275	0.3532287	0.999999999533386	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.666236	0.60216	0	0.618803	0.45993	0	.	.	5.61	1.59	0.22622	0.561000	0.23220	4.239000	0.42696	-0.225000	0.07834	0.732000	0.28943	1.000000	0.68203	0.958000	0.51230	0.0:0.4815:0.5185:0.0	17.628	0.88001	557	0.71576	Cyclin, C-terminal domain|Cyclin-like|Cyclin, C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.04762	3315.08	36	chr5	55231488	.	C	T	3315.08	.	AC=2;AF=0.048;AN=42;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.27;SOR=0.941	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1222	20	1	0	0
chr5	55649263	55649263	C	T	exonic	SLC38A9	.	nonsynonymous SNV	SLC38A9:NM_001258286:exon9:c.G815A:p.R272H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.0	B	0.001	B	0.026	N	0.677	N	-0.145	N	4.39	T	-1.059	T	0.016	T	0.052	2.093	12.96	-3.76	-0.727	-0.342	13.720	0.052	.	0.0072	0.00678914	0.0024	0.0259	0.0014	0.0001	0	0.0001	0	0.0001	0.0021992	340	154602	rs35800744	0.0009	0.0009	0.0010	0.0007	0.0263	0.0008	0.0008	0.0248	0.0242	0.0263	0.0021	0	5.067e-05	0	0.0024	0.0001	0.0020	0.0001	0.0077	0.0078	0.0081	0.0074	0.0259	0.0074	0.0072	0.0246	0.0241	0.0259	0	0.0048	0	0	0	0	0.0002	0.0071	0	0.758	0.15823	T	0.285	0.25907	T	0.0	0.02946	B	0.001	0.04355	B	0.025993	0.25994	N	0.471018	0.676538	0.33193	D	-0.17	0.04298	N	4.39	0.30401	T	-0.6	0.23156	N	0.118	0.10769	-1.0587	0.12083	T	0.016	0.06711	T	10	0.0030638576	0.00051	T	.	.	.	0.052	0.14661	.	.	0.0675242888579	0.06100	0.35172987465907396	0.35086	0.286892952516	0.31084	0.202442273498	0.00531	T	0.005564	0.08187	T	-0.710333	0.00032	T	-0.772848	0.02676	T	0.0168655339327898	0.00439	T	0.865313	0.56401	D	0.029237304	0.02385	0.035147417	0.02713	0.029237304	0.02385	0.035147417	0.02712	-4.813	0.34743	T	.	.	0.061	0.03266	B	.;.;.;.;.	.;.;.;.;.	0.703903	0.10728	7.418	0.86556643073329997	0.16616	0.01608	0.05209	N	AEFI	0.037566	0.05184	N	-1.18865402266203	0.05171	0.2350938	-1.13888009199243	0.06969	0.3373052	0.0727565012000307	0.15611	0.651	0.46895	0	0.633656	0.55848	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.56	-3.76	0.04074	-0.345000	0.07819	-3.857000	0.02492	-0.176000	0.10722	0.017000	0.19353	0.000000	0.08366	0.997000	0.79791	0.0:0.3152:0.0:0.6848	13.720	0.62202	926	0.17793	Amino acid transporter, transmembrane domain;Amino acid transporter, transmembrane domain;Amino acid transporter, transmembrane domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	703.98	35	chr5	55649263	.	C	T	703.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.980e-01;DP=773;ExcessHet=0.0000;FS=0.912;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.20;ReadPosRankSum=1.40;SOR=0.774	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1181	20	0	1	0
chr5	55916796	55916796	A	-	exonic	IL31RA	.	frameshift deletion	IL31RA:NM_001242636:exon15:c.1914delA:p.T639Rfs*7	Amyloidosis, primary localized cutaneous, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2022.94	42	chr5	55916795	.	GA	G	2022.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.904e+00;DP=883;ExcessHet=0.0000;FS=4.313;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.06;ReadPosRankSum=0.879;SOR=0.413	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,114,1710	20	0	1	0
chr5	55947563	55947563	C	T	exonic	IL6ST	.	nonsynonymous SNV	IL6ST:NM_001364279:exon13:c.G871A:p.V291M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.898	P	0.000	D	1.000	D	1.155	L	1.26	T	-0.826	T	0.190	T	0.629	4.660	25.7	5.79	2.753	5.593	19.645	0.201	0.0367877266479	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1445942110	5.148e-06	2.27e-05	1.718e-06	8.569e-06	0.0003	1.85e-06	1.22e-06	1.07e-06	7.2e-07	0	0	0	0	0	0.0003	4.562e-06	0	1.421e-05	8.089e-06	7.61e-06	1.51e-05	0	3.195e-05	0	0	.	.	3.195e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.898	0.63708	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.71	0.79292	M	1.26	0.41392	T	-1.32	0.34397	N	0.764	0.76203	-0.8259	0.53563	T	0.190	0.54168	T	10	0.4949175	0.61210	T	0.036788	0.57211	D	0.201	0.48592	.	.	0.575146471916	0.57183	0.7311210203190788	0.73057	0.50769199222	0.48953	0.827136278152	0.86124	D	0.319469	0.69075	T	0.0191192	0.54262	T	-0.210313	0.53666	T	0.85374734773836	0.50492	D	0.933007	0.75196	D	0.20199113	0.42228	0.2905947	0.55083	0.20199113	0.42228	0.2905947	0.55082	-8.474	0.64257	D	.	.	0.943	0.86235	P	.;.;.;.	.;.;.;.	5.057756	0.84280	28.3	0.99908896502256417	0.97875	0.94462	0.61243	D	AEFBCI	0.729802	0.67740	D	0.648518936315824	0.76272	6.456106	0.686267684419075	0.81334	7.50276	0.999999981098042	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.741806	0.99463	0	.	.	5.79	5.79	0.91751	5.726000	0.68163	7.499000	0.59464	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.645	0.95766	822	0.40702	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	718.98	34	chr5	55947563	.	C	T	718.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.280;DP=896;ExcessHet=0.0000;FS=1.047;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=0.339;SOR=0.906	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1118	20	0	1	0
chr5	56111538	56111538	C	T	exonic	ANKRD55	.	nonsynonymous SNV	ANKRD55:NM_024669:exon10:c.G1210A:p.V404I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.001	B	0.002	B	0.188	N	1.000	N	0.345	N	1.43	T	-1.026	T	0.046	T	0.086	1.049	9.284	4.7	1.448	0.488	2.020	0.073	0.00303350215862	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1190937549	3.421e-06	3.42e-06	5.447e-06	1.375e-06	2.32e-05	1e-06	7.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	2.698e-06	0	2.32e-05	6.571e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.274	0.16412	T	0.544	0.09655	T	.	.	.	.	.	.	0.188279	0.16916	N	0.566077	1	0.08975	N	1.115	0.28702	L	1.35	0.38883	T	0.1	0.07155	N	0.039	0.07125	-1.0263	0.21658	T	0.046	0.19879	T	10	0.042841405	0.03073	T	0.003034	0.06517	T	0.073	0.21317	.	.	0.222439326576	0.21863	0.10186180805474966	0.10117	0.164863425096	0.18598	0.388698607683	0.23486	T	0.007204	0.07680	T	-0.303043	0.08375	T	-0.657591	0.08430	T	0.0518343225121498	0.05818	T	0.675332	0.28377	T	0.042524453	0.06464	0.04210137	0.04939	0.042524453	0.06463	0.04210137	0.04938	-4.028	0.24221	T	.	.	0.077	0.19839	B	.;.;.	.;.;.	1.789613	0.22753	15.75	0.94309302959826447	0.24626	0.06487	0.12497	N	AEFDBHCI	0.037775	0.05245	N	-0.574236415578875	0.19730	1.034899	-0.401907436333683	0.24941	1.368683	0.999988799572175	0.51787	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.491896	0.07777	0	.	.	5.59	4.7	0.58776	0.356000	0.19918	2.656000	0.33848	0.597000	0.34315	0.014000	0.18986	1.000000	0.68203	0.999000	0.91618	0.1501:0.5:0.1452:0.2047	2.020	0.03293	313	0.87327	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1660.98	97	chr5	56111538	.	C	T	1660.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.940e-01;DP=1717;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.24;ReadPosRankSum=0.092;SOR=0.701	GT:AD:DP:GQ:PL	0/0:103,0:103:99:0,120,1800	20	0	1	0
chr5	56116697	56116697	C	T	exonic	ANKRD55	.	nonsynonymous SNV	ANKRD55:NM_024669:exon9:c.G883A:p.D295N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	1.0	D	1.0	D	0.000	D	1.000	D	1.645	L	2.26	T	-0.061	T	0.524	D	0.252	5.427	35	5.3	2.486	6.368	19.003	0.356	0.0727687640788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.91255	D	0.095	0.92824	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999882	0.52935	D	.	.	.	2.26	0.75325	T	-3.7	0.75935	D	0.803	0.95956	-0.0609	0.80974	T	0.524	0.82268	D	10	0.8243815	0.81625	D	0.072769	0.71618	D	0.356	0.67691	.	.	0.677337262006	0.67459	0.38723982281305713	0.38638	0.781431340494	0.65314	0.644567966461	0.59214	T	0.060252	0.36234	T	0.0105389	0.53098	T	-0.222638	0.52482	T	0.997116327285767	0.90803	D	0.939106	0.77145	D	0.44487065	0.63715	0.39209393	0.63963	0.44487065	0.63716	0.39209393	0.63963	-13.068	0.89641	D	.	.	0.852	0.79861	P	.;.;.	.;.;.	4.990201	0.82727	27.9	0.99918093701733934	0.98518	0.90953	0.52575	D	ALL	0.830166	0.74894	D	0.703678293308031	0.79873	7.170749	0.701732088467683	0.82508	7.784938	1.0	0.98316	0.553676	0.25195	0	0.588015	0.36545	0	0.48864	0.07692	0	0.52698	0.09003	0	.	.	5.3	5.3	0.74745	6.673000	0.74320	7.489000	0.59345	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	19.003	0.92820	305	0.87738	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1159.98	35	chr5	56116697	.	C	T	1159.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.116;DP=819;ExcessHet=0.0000;FS=0.726;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.94;ReadPosRankSum=-1.353e+00;SOR=0.846	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1120	20	0	1	0
chr5	56176157	56176157	A	T	exonic	ANKRD55	.	nonsynonymous SNV	ANKRD55:NM_024669:exon4:c.T307A:p.Y103N,	.	.	432	1073	14	3	0	20	0.00923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	1.0	D	1.0	D	0.000	D	1.000	D	1.25	L	-0.08	T	-0.638	T	0.313	T	0.87	4.728	26.3	5.31	1.992	7.712	14.921	0.569	0.0581225913984	0.0006	0.000199681	0.0006	0	0.0003	0	0	0.0008	0	0.0013	0.0005886	91	154602	rs150154852	0.0006	0.0006	0.0005	0.0007	0.0047	0.0006	0.0005	0.0033	0.0028	5.974e-05	0.0007	0	0	0	0.0047	0.0006	0.0009	0.0013	0.0006	0.0006	0.0005	0.0006	0.0012	0.0005	0.0004	0.0007	0.0006	0.0001	0	0.0008	0	0	0	0	0.0009	0.0014	0.0012	0.016	0.63226	D	0.054	0.47097	T	.	.	.	.	.	.	0.000001	0.84330	D	0.000000	0.999996	0.58761	D	0.965	0.23975	L	-0.08	0.63911	T	-5.23	0.93927	D	0.826	0.86191	-0.6383	0.63218	T	0.313	0.68300	T	10	0.28848886	0.46431	T	0.058123	0.67208	D	0.569	0.82460	.	.	0.732198053523	0.72981	0.45069754833998027	0.44987	1.02897236375	0.75360	0.790907740593	0.80581	T	0.120591	0.44293	T	0.00145196	0.51855	T	0.193931	0.82790	D	0.100164450217825	0.12375	T	0.938506	0.78031	D	0.7814739	0.82744	0.82325923	0.89748	0.7814739	0.82746	0.82325923	0.89749	-11.747	0.83597	D	.	.	0.853	0.79905	P	.;.;.	.;.;.	4.910569	0.80791	27.4	0.98771492631215552	0.45971	0.97189	0.73214	D	AEFGBIJ	0.880243	0.80676	D	0.535002652593623	0.69173	5.319768	0.557100437409434	0.71893	5.724689	0.999999999968751	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.491513	0.07944	0	0.635259	0.50027	0	.	.	5.31	5.31	0.75063	8.072000	0.89294	11.134000	0.86880	0.748000	0.86766	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	1.0:0.0:0.0:0.0	14.921	0.70487	268	0.89479	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	906.98	35	chr5	56176157	.	A	T	906.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.750e-01;DP=787;ExcessHet=0.0000;FS=0.832;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.80;ReadPosRankSum=1.06;SOR=0.525	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr5	56176213	56176213	C	G	exonic	ANKRD55	.	nonsynonymous SNV	ANKRD55:NM_024669:exon4:c.G251C:p.G84A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	3	M	-0.02	T	0.354	D	0.613	D	0.776	4.963	28.9	5.49	2.564	6.485	18.973	0.611	0.0825834433114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.006	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	3.085	0.87354	M	-0.69	0.72678	T	-5.39	0.85027	D	0.785	0.80473	0.354	0.88407	D	0.613	0.86309	D	10	0.9550423	0.94860	D	0.082583	0.73931	D	0.611	0.84773	0.906	0.98027	0.80381549427	0.80198	0.6107256032422304	0.61004	0.823692342368	0.67291	0.811722517014	0.83755	D	0.063944	0.33257	T	0.260345	0.79562	D	0.136191	0.79297	D	0.999545633792877	0.97846	D	0.933807	0.80559	D	0.94589317	0.95847	0.9505576	0.98433	0.94589317	0.95847	0.9505576	0.98433	-7.578	0.58157	D	.	.	0.930	0.85039	P	.;.;.	.;.;.	4.686076	0.75034	26.3	0.99841143022474399	0.92143	0.95813	0.66263	D	AEFDGBIJ	0.745663	0.68827	D	0.886070054867916	0.91062	10.69638	0.833914671728822	0.92042	11.20494	0.999999999999951	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.491513	0.07944	0	0.631631	0.49550	0	.	.	5.49	5.49	0.81022	6.866000	0.75301	7.630000	0.62690	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.973	0.92701	269	0.89438	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1394.98	35	chr5	56176213	.	C	G	1394.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.286e+00;DP=863;ExcessHet=0.0000;FS=2.871;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.77;ReadPosRankSum=-8.590e-01;SOR=0.489	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr5	56771557	56771557	G	T	exonic	LOC105378979	.	nonsynonymous SNV	LOC105378979:NM_001365184:exon2:c.C224A:p.T75N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00259585	.	.	.	.	.	.	.	.	0.0018826	49	26028	rs531984361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0009	0.0007	0.0012	0.0147	0.0008	0.0008	0.0119	0.0109	7.214e-05	0	0.0006	0.0006	0	0	0	0.0008	0.0009	0.0147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	39.55	1	chr5	56771557	.	G	T	39.55	.	AC=2;AF=0.100;AN=20;DP=49;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2534;MLEAC=2;MLEAF=0.100;MQ=60.00;QD=19.77;SOR=0.693	GT:AD:DP:GQ:PL	./.	9	1	0	11
chr5	56815748	56815748	C	T	exonic	MAP3K1	.	nonsynonymous SNV	MAP3K1:NM_005921:exon1:c.C175T:p.R59W,	46XY sex reversal 6, Autosomal dominant	.	2	1518	1	1	0	3	0.000987167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.646	P	0.013	N	0.984	D	0.55	N	-0.69	T	-0.566	T	0.237	T	0.253	4.496	24.1	2.78	1.642	1.202	10.231	0.220	0.972069044743	.	.	0.0019	0	0	0	.	0	0	0.0026	7.76e-05	12	154602	rs749840532	0.0001	0.0002	6.77e-05	0.0001	0.0011	8.803e-05	8.205e-05	0.0009	0.0008	0	0.0002	0	0	0	0.0008	5.466e-05	0.0001	0.0011	3.968e-05	3.941e-05	3.879e-05	4.06e-05	0.0004	1.724e-05	1.135e-05	7.29e-05	3.029e-05	2.413e-05	0	0.0001	0	0	0	0	0	0.0005	0.0004	0.0	0.91255	D	0.025	0.56192	D	0.997	0.70673	D	0.646	0.52296	P	0.013093	0.28955	N	0.148799	0.983988	0.40085	D	0.345	0.11182	N	-0.69	0.72678	T	-0.22	0.10480	N	0.357	0.39861	-0.5657	0.66185	T	0.237	0.60403	T	10	0.059810013	0.07247	T	0.972069	0.99834	D	0.220	0.51569	0.338	0.32816	0.507398668792	0.50380	0.14048827901812413	0.13971	0.629891857601	0.57002	0.951246976852	0.99777	D	0.082001	0.36728	T	-0.249248	0.14191	T	-0.160883	0.58272	T	0.142035077591799	0.16449	T	0.735426	0.35200	T	0.30061865	0.52961	0.41013867	0.65282	0.30061865	0.52960	0.41013867	0.65282	-6.696	0.51780	T	.	.	0.711	0.73413	P	.	.	5.131293	0.85875	28.7	0.99880445329034218	0.95653	0.20086	0.20909	N	ALL	0.294453	0.40483	N	0.185230014867501	0.50490	3.238491	0.185036869818434	0.49027	3.11093	0.999999958921556	0.74766	0.024636	0.00146	3	0.166054	0.03914	2	0.239995	0.05000	1	0.56214	0.19341	0	.	.	3.74	2.78	0.31702	0.834000	0.27171	4.053000	0.41524	0.482000	0.22156	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.7957:0.2043:0.0	10.231	0.42432	902	0.24074	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	698.98	31	chr5	56815748	.	C	T	698.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=733;ExcessHet=0.0000;FS=4.741;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.64;ReadPosRankSum=0.171;SOR=0.915	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	20	0	1	0
chr5	56859791	56859791	A	G	exonic	MAP3K1	.	nonsynonymous SNV	MAP3K1:NM_005921:exon3:c.A710G:p.Q237R,	46XY sex reversal 6, Autosomal dominant	.	0	1486	33	3	0	39	0.0129525	.	.	246988	46,XY_sex_reversal_6|not_specified|not_provided	MONDO:MONDO:0013410,MedGen:C3151064,OMIM:613762|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.0	B	0.588	N	1.000	N	0.55	N	-0.34	T	-1.036	T	0.115	T	0.177	1.118	9.557	-3.69	-0.366	0.717	4.332	0.137	.	0.0006	0.000798722	0.0018	0.0003	0.0065	0	0	0.0015	0.0102	0.0020	0.0015394	238	154602	rs55694258	0.0009	0.0009	0.0009	0.0010	0.0219	0.0009	0.0009	0.0188	0.0176	0.0008	0.0039	0.0015	0	1.873e-05	0.0219	0.0007	0.0016	0.0020	0.0009	0.0009	0.0009	0.0010	0.0024	0.0008	0.0007	0.0018	0.0016	0.0003	0	0.0024	0.0020	0	9.411e-05	0.0272	0.0009	0.0038	0.0004	0.006	0.61437	D	0.481	0.11864	T	0.0	0.02946	B	0.0	0.01387	B	0.587908	0.11078	N	0.837756	0.999939	0.19363	N	0.805	0.20218	L	-0.34	0.68474	T	-0.26	0.11185	N	0.188	0.20528	-1.0356	0.18668	T	0.115	0.40695	T	10	0.0047872365	0.00101	T	.	.	.	0.137	0.36984	.	.	0.767770749785	0.76565	0.31167554021633687	0.31080	0.279873614581	0.30470	0.311512827873	0.12135	T	0.055951	0.30151	T	-0.456778	0.01029	T	-0.430062	0.29928	T	0.00589602414781587	0.00065	T	0.490351	0.15073	T	0.11099415	0.26231	0.0930921	0.21972	0.11099415	0.26231	0.0930921	0.21971	-2.332	0.04733	T	0.13438310379934096	0.14510	0.086	0.10691	B	.	.	0.535943	0.09045	5.828	0.96312841096384838	0.29387	0.16668	0.19494	N	AEFBI	0.065049	0.12665	N	-1.08706520600638	0.06880	0.3180284	-1.11087423519471	0.07492	0.3646073	0.997200512597275	0.35373	0.566229	0.32551	0	0.615513	0.52658	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.72	-3.69	0.04162	0.455000	0.21555	0.471000	0.18712	0.756000	0.94297	0.073000	0.22155	0.001000	0.17328	0.102000	0.18378	0.3117:0.428:0.0612:0.1991	4.332	0.10510	919	0.19497	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1055.98	33	chr5	56859791	.	A	G	1055.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.494;DP=736;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.92;ReadPosRankSum=0.989;SOR=0.739	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1042	20	0	1	0
chr5	56859824	56859824	G	A	exonic	MAP3K1	.	nonsynonymous SNV	MAP3K1:NM_005921:exon3:c.G743A:p.R248Q,	46XY sex reversal 6, Autosomal dominant	.	0	1512	10	0	0	10	0.00329598	.	.	1136938	46,XY_sex_reversal_6	MONDO:MONDO:0013410,MedGen:C3151064,OMIM:613762	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.12	T	0.462	P	0.033	B	0.000	D	0.998	D	0.46	N	-0.51	T	-0.785	T	0.192	T	0.713	4.008	20.5	5.72	2.865	5.923	20.244	0.307	0.0340909185494	0.0002	0.000199681	0.0002	0.0001	0.0003	0	0	0.0002	0	0.0001	0.0001746	27	154602	rs201579608	0.0002	0.0002	0.0001	0.0002	0.0040	0.0001	0.0001	0.0027	0.0023	0.0001	0.0002	0	0.0005	0	0.0040	0.0001	0.0003	9.282e-05	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	9.698e-05	0.0002	8.372e-05	0.0002	0	0.0003	0	0.0006	0	0	0.0001	0.0005	0.0002	0.003	0.68238	D	0.197	0.27855	T	0.462	0.36386	P	0.033	0.22329	B	0.000007	0.62929	D	0.063999	0.998404	0.44873	D	0.695	0.17993	N	-0.51	0.70597	T	-0.26	0.11185	N	0.353	0.39457	-0.7854	0.55996	T	0.192	0.54448	T	10	0.13928393	0.26483	T	0.034091	0.55435	D	0.307	0.62838	.	.	0.897716925907	0.89670	0.46619975331670543	0.46538	0.285112308247	0.30925	0.453801572323	0.32463	T	0.085057	0.37416	T	-0.0781638	0.40014	T	-0.0653399	0.65956	T	0.064693726938696	0.07885	T	0.951005	0.81304	D	0.23866391	0.46746	0.23046295	0.48150	0.23866391	0.46746	0.23046295	0.48149	-5.001	0.36851	T	0.2071040475170354	0.27674	0.130	0.27968	B	.	.	3.923521	0.57294	23.8	0.99918331915710756	0.98586	0.96278	0.68361	D	AEFBI	0.435074	0.49586	N	0.17648182852868	0.50070	3.200756	0.362723241512512	0.59277	4.104244	0.999999855760563	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.72	5.72	0.89380	5.996000	0.70309	7.604000	0.61663	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	20.244	0.98390	919	0.19497	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	840.98	33	chr5	56859824	.	G	A	840.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.531;DP=772;ExcessHet=0.0000;FS=0.918;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=-1.556e+00;SOR=0.527	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1042	20	0	1	0
chr5	56881085	56881085	T	C	exonic	MAP3K1	.	nonsynonymous SNV	MAP3K1:NM_005921:exon13:c.T2182C:p.S728P,	46XY sex reversal 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.996	D	0.755	P	0.000	D	1.000	D	1.43	L	-0.11	T	-0.568	T	0.296	T	0.891	2.869	15.56	5.77	2.326	6.586	16.395	0.266	0.0434108942168	8.5e-05	.	3.932e-05	0	0	0	0	7.473e-05	0	0	2.59e-05	4	154602	rs369723872	2.335e-05	2.326e-05	2.05e-05	2.622e-05	0.0003	1.68e-05	1.483e-05	6.107e-05	2.527e-05	0	0	0	0	0	0.0003	2.709e-05	3.324e-05	0	3.942e-05	3.94e-05	7.706e-05	0	8.819e-05	1.715e-05	1.129e-05	3.761e-05	2.575e-05	0	0	0	0	0	0	0	8.819e-05	0	0	0.075	0.34444	T	0.034	0.52727	D	0.996	0.68779	D	0.755	0.56206	P	0.000000	0.84330	D	0.000000	0.999933	0.51612	D	0.895	0.22405	L	-0.11	0.64445	T	-0.64	0.18670	N	0.889	0.88798	-0.5677	0.66107	T	0.296	0.66782	T	10	0.78331417	0.78036	D	0.043411	0.60972	D	0.266	0.57999	.	.	0.906719468725	0.90578	0.6857615187886623	0.68516	0.918591870211	0.71354	0.663202166557	0.61867	T	0.082288	0.36793	T	0.135758	0.67918	D	0.143134	0.79747	D	0.377691268920898	0.28094	T	0.887811	0.61653	D	0.69726545	0.77908	0.5211455	0.72334	0.69726545	0.77909	0.5211455	0.72335	-5.355	0.40484	T	0.5233693440382813	0.59530	0.497	0.64435	A	.	.	3.726895	0.53285	23.3	0.99819459871864058	0.90238	0.96802	0.71018	D	AEFBI	0.856117	0.77331	D	0.591329797672735	0.72633	5.83656	0.628906383590479	0.77049	6.605023	0.998842723673837	0.37800	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.77	5.77	0.91077	6.545000	0.73784	6.192000	0.54780	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	16.395	0.83423	926	0.17793	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	696.98	34	chr5	56881085	.	T	C	696.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.000e+00;DP=711;ExcessHet=0.0000;FS=1.335;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.49;ReadPosRankSum=-5.910e-01;SOR=0.437	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1191	20	0	1	0
chr5	56882153	56882155	ACC	-	exonic	MAP3K1	.	nonframeshift deletion	MAP3K1:NM_005921:exon14:c.2953_2955del:p.T985del,	46XY sex reversal 6, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	699128	46,XY_sex_reversal_6	MONDO:MONDO:0013410,MedGen:C3151064,OMIM:613762	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0084	0.00798722	0.0022	0.0264	0.0008	0	0	2.998e-05	0.0011	0	0.000461	12	26028	rs140733770	0.0008	0.0008	0.0009	0.0006	0.0271	0.0007	0.0007	0.0257	0.0251	0.0271	0.0013	0	0	0	0.0012	1.799e-05	0.0020	4.637e-05	0.0072	0.0072	0.0077	0.0068	0.0251	0.0069	0.0067	0.0238	0.0233	0.0251	0	0.0026	0	0	0	0.0034	8.82e-05	0.0057	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	7362.05	144	chr5	56882152	.	AACC	A	7362.05	.	AC=2;AF=0.048;AN=42;DP=2676;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.61;SOR=1.004	GT:AD:DP:GQ:PL	0/0:160,0:160:99:0,120,1800	20	1	0	0
chr5	56911377	56911377	A	-	exonic	SETD9	.	frameshift deletion	SETD9:NM_001171990:exon2:c.307delA:p.R103Dfs*29	.	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000798722	0.0002	9.694e-05	8.657e-05	0	0	0.0002	0.0011	0.0007	0.0002199	34	154602	rs575788115	0.0002	0.0002	0.0001	0.0002	0.0014	0.0002	0.0001	0.0007	0.0005	2.991e-05	0.0001	7.668e-05	0	3.746e-05	0.0014	0.0001	0.0003	0.0007	0.0001	0.0001	0.0001	0.0001	0.0008	7.573e-05	6.278e-05	0.0003	0.0002	4.813e-05	0	0.0001	0.0003	0.0002	0	0	0.0001	0.0005	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1736.94	41	chr5	56911376	.	CA	C	1736.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.994;DP=912;ExcessHet=0.0000;FS=1.362;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=2.77;SOR=0.557	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr5	58494958	58494958	C	T	exonic	GAPT	.	nonsynonymous SNV	GAPT:NM_001304428:exon3:c.C422T:p.P141L	.	.	438	1078	6	0	0	6	0.00277521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.002	B	0.002	B	0.851	N	1.000	N	0.205	N	0.81	T	-1.038	T	0.076	T	0.104	1.025	9.186	3.12	1.422	0.928	6.975	0.053	0.00742575108528	0.0002	0.00119808	0.0007	0.0001	0.0002	0	0	0.0003	0	0.0040	0.000608	94	154602	rs200092019	0.0003	0.0003	0.0002	0.0005	0.0040	0.0003	0.0003	0.0036	0.0035	0	8.962e-05	7.659e-05	0	1.874e-05	0.0014	9.537e-05	0.0005	0.0040	0.0003	0.0003	0.0002	0.0004	0.0062	0.0002	0.0002	0.0045	0.0039	7.217e-05	0	0.0001	0	0	0	0.0068	8.821e-05	0	0.0062	0.08	0.33585	T	0.506	0.10967	T	0.002	0.09854	B	0.002	0.06944	B	0.850726	0.07056	N	1.077450	1	0.08975	N	0.695	0.17993	N	0.81	0.48460	T	-2.14	0.48523	N	0.061	0.03283	-1.0378	0.17985	T	0.076	0.30645	T	10	0.0045828223	0.00095	T	0.007426	0.19712	T	0.053	0.14996	.	.	0.206339911435	0.20273	0.2781400967547373	0.27727	0.0958417209937	0.10824	0.238232418895	0.02633	T	0.310203	0.68218	T	-0.562202	0.00246	T	-0.580622	0.14489	T	0.0402623104373249	0.03738	T	0.529047	0.17505	T	0.028856806	0.02288	0.092804134	0.21889	0.028856806	0.02288	0.092804134	0.21889	-4.05	0.24549	T	.	.	0.075	0.05360	B	.;.	.;.	1.442737	0.18626	13.84	0.4469265153498222	0.03454	0.04690	0.10375	N	AEFI	0.085813	0.17397	N	-0.759187203078711	0.14385	0.7161214	-0.718531018671027	0.16499	0.8731216	0.999919371370916	0.45857	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.91	3.12	0.34986	0.436000	0.21244	0.284000	0.16799	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.607000	0.31564	0.0:0.7999:0.0:0.2001	6.975	0.23848	911	0.21964	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1256.98	37	chr5	58494958	.	C	T	1256.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.90;DP=841;ExcessHet=0.0000;FS=8.361;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.20;ReadPosRankSum=-4.900e-01;SOR=1.477	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1197	20	0	1	0
chr5	59039095	59039095	G	T	exonic	PDE4D	.	nonsynonymous SNV	PDE4D:NM_001197222:exon1:c.C13A:p.P5T,	Acrodysostosis 2, with or without hormone resistance, Autosomal dominant	.	1	1515	6	0	0	6	0.00197628	.	.	438944	not_provided|PDE4D-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00419329	0.0159	0.0060	0.0066	0	0.0224	0.0232	0.0227	0.0022	0.0023027	356	154602	rs16889108	0.0105	0.0100	0.0104	0.0107	0.0119	0.0104	0.0103	0.0117	0.0116	0.0013	0.0046	0.0033	0	0.0180	0.0004	0.0119	0.0067	0.0024	0.0085	0.0085	0.0084	0.0086	0.0135	0.0081	0.0079	0.0128	0.0125	0.0018	0	0.0042	0.0037	0	0.0189	0	0.0135	0.0043	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	850.98	34	chr5	59039095	.	G	T	850.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.850e-01;DP=810;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.86;ReadPosRankSum=0.060;SOR=0.662	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1138	20	0	1	0
chr5	59430382	59430382	C	G	exonic	PDE4D	.	nonsynonymous SNV	PDE4D:NM_001349242:exon3:c.G37C:p.G13R,	Acrodysostosis 2, with or without hormone resistance, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.853e-06	1.368e-06	3.511e-06	0	0.0003	3.1e-07	1.2e-07	.	.	4.358e-05	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22856304	0.39763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008984	0.08212	T	.	.	.	.	.	.	.	.	.	0.608539	0.22995	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.37044	B	.	.	3.760862	0.53966	23.4	0.68507996171951779	0.08679	0.93699	0.58939	D	AEFDI	.	.	.	.	.	.	.	.	.	0.999999867651624	0.74766	0.07523	0.01759	0	0.109994	0.03358	0	0.065499	0.01848	0	0.062806	0.01542	0	0.97756	0.81275	5.32	5.32	0.75377	3.970000	0.56530	3.902000	0.40356	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.9277:0.0:0.0723	14.475	0.67120	761	0.50382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1104.98	35	chr5	59430382	.	C	G	1104.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.88;DP=856;ExcessHet=0.0000;FS=1.330;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.04;ReadPosRankSum=6.000e-03;SOR=0.831	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1502	20	0	1	0
chr5	60754754	60754754	G	A	exonic	ELOVL7	.	nonsynonymous SNV	ELOVL7:NM_001104558:exon8:c.C716T:p.A239V	.	.	435	1080	7	0	0	7	0.00323027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.004	B	0.598	N	1.000	N	0.34	N	2.03	T	-1.000	T	0.025	T	0.068	-0.272	2.696	-0.637	0.100	4.888	7.478	0.111	.	.	0.00279553	0.0022	0	0.0003	0.0001	0	1.499e-05	0.0011	0.0161	0.0019275	298	154602	rs114998585	0.0010	0.0010	0.0006	0.0015	0.0165	0.0010	0.0010	0.0158	0.0155	2.987e-05	8.944e-05	0	0	0	0.0007	1.979e-05	0.0012	0.0165	0.0005	0.0005	0.0003	0.0007	0.0147	0.0004	0.0004	0.0119	0.0109	0	0	6.542e-05	0	0	0	0	2.941e-05	0	0.0147	0.713	0.04008	T	0.612	0.07642	T	0.001	0.09854	B	0.003	0.10090	B	0.597730	0.05628	N	1.221100	0.999578	0.20950	N	-0.11	0.04642	N	2.03	0.20959	T	2.03	0.00392	N	0.028	0.00618	-1.0005	0.29774	T	0.025	0.10598	T	10	0.003026247	0.00050	T	.	.	.	0.111	0.31313	.	.	0.0482279557977	0.04254	0.17150888370810333	0.17070	0.161705904285	0.18250	0.272379875183	0.06453	T	0.009644	0.08771	T	-0.643436	0.00079	T	-0.684054	0.06739	T	0.0103003973151032	0.00140	T	0.712729	0.32446	T	0.09406212	0.22106	0.052071497	0.08507	0.09406212	0.22106	0.052071497	0.08507	-1.894	0.02805	T	.	.	0.173	0.39322	B	.;.;.	.;.;.	1.276549	0.16756	12.75	0.28716384890801233	0.01488	0.33976	0.24958	N	AEFI	0.055051	0.10063	N	-1.02884403872823	0.08008	0.3740372	-0.921659100159656	0.11584	0.5910053	1.85047223870922E-5	0.02871	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.89	-0.637	0.10926	4.871000	0.62737	4.333000	0.43033	-0.102000	0.15922	0.999000	0.42656	0.997000	0.33255	0.608000	0.31589	0.6093:0.0:0.0631:0.3276	7.478	0.26554	0	0.99858	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1444.98	34	chr5	60754754	.	G	A	1444.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.907;DP=798;ExcessHet=0.0000;FS=1.594;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.76;ReadPosRankSum=2.42;SOR=0.930	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1104	20	0	1	0
chr5	60771922	60771922	G	C	exonic	ELOVL7	.	nonsynonymous SNV	ELOVL7:NM_001104558:exon3:c.C236G:p.S79C	.	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.000	D	1.000	D	2.375	M	0.71	T	-0.412	T	0.341	T	0.919	4.423	23.5	5.73	2.868	9.388	20.279	0.681	0.0613547569781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs368309905	6.851e-07	6.84e-07	1.363e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.45	0.71042	M	0.71	0.51228	T	-4.82	0.81107	D	0.919	0.92200	-0.4118	0.71653	T	0.341	0.70713	T	10	0.91465944	0.90828	D	0.061355	0.68304	D	0.681	0.88300	0.774	0.90002	0.610589977033	0.60745	0.7475018586076664	0.74696	0.676802285866	0.59796	0.628733038902	0.56965	T	0.205654	0.56477	T	0.304053	0.83289	D	0.198975	0.83072	D	0.998110771179199	0.93268	D	0.838216	0.51127	T	0.84997267	0.87333	0.69183075	0.81863	0.84997267	0.87335	0.69183075	0.81864	-9.27	0.69419	D	.	.	0.548	0.66743	A	.;.;.;.;.	.;.;.;.;.	5.119921	0.85627	28.7	0.99445181225394774	0.64971	0.99366	0.95088	D	AEFBI	0.941110	0.94395	D	0.93457361501928	0.93347	11.97975	0.920281621337817	0.96398	14.64769	0.999999989364752	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.73	5.73	0.89730	9.561000	0.97256	11.884000	0.98910	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	20.279	0.98503	0	0.99858	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	967.98	35	chr5	60771922	.	G	C	967.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.243;DP=783;ExcessHet=0.0000;FS=3.833;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.68;ReadPosRankSum=-1.767e+00;SOR=0.411	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1231	20	0	1	0
chr5	61332332	61332332	-	GGC	exonic	ZSWIM6	.	nonframeshift insertion	ZSWIM6:NM_020928:exon1:c.60_61insGGC:p.G26_S27insG,	Acromelic frontonasal dysostosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	6329.05	24	chr5	61332326	.	GGGCGGC	GGGCGGCGGC,G	6329.05	.	AC=9,3;AF=0.214,0.071;AN=42;BaseQRankSum=1.13;DP=807;ExcessHet=0.7800;FS=1.515;InbreedingCoeff=0.0667;MLEAC=9,3;MLEAF=0.214,0.071;MQ=60.00;MQRankSum=0.00;QD=21.31;ReadPosRankSum=-9.200e-02;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0:34:99:.:.:0,99,1130,99,1130,1130	11	1	6	0
chr5	61521314	61521314	A	G	exonic	ZSWIM6	.	nonsynonymous SNV	ZSWIM6:NM_020928:exon5:c.A1385G:p.K462R,	Acromelic frontonasal dysostosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.81	T	0.938	P	0.832	P	.	.	1.000	D	0.97	L	0.41	T	-0.917	T	0.183	T	0.667	2.764	15.20	5.31	2.019	7.115	15.278	0.207	0.00846202466103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.156e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.708	0.04069	T	0.596	0.08052	T	0.938	0.52538	P	0.832	0.59730	P	.	.	.	.	0.999969	0.52935	D	1.445	0.36358	L	0.41	0.57100	T	-1.73	0.41046	N	0.334	0.37509	-0.9167	0.45997	T	0.183	0.53148	T	9	0.2573164	0.43146	T	0.008462	0.22382	T	0.207	0.49555	0.442	0.49811	0.312608672186	0.30878	0.6717056442485151	0.67108	0.524515693656	0.50131	0.812857747078	0.83930	D	0.008811	0.08060	T	0.0594212	0.59540	T	-0.152422	0.59029	T	0.965910911560059	0.67417	D	0.807219	0.45710	T	0.11784891	0.27775	0.18002182	0.40774	0.11784891	0.27774	0.18002182	0.40774	-7.822	0.59851	D	0.08275249221538739	0.04402	0.173	0.37876	B	.	.	4.505717	0.70515	25.5	0.99773841752608339	0.86174	0.96989	0.72051	D	AEFBI	0.809370	0.73289	D	0.384387166239373	0.60575	4.248016	0.447271517714405	0.64540	4.711697	0.999999999993227	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	7.131000	0.76850	11.277000	0.91602	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	15.278	0.73460	637	0.64373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	878.98	34	chr5	61521314	.	A	G	878.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.490e-01;DP=784;ExcessHet=0.0000;FS=0.807;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.45;ReadPosRankSum=0.646;SOR=0.814	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1164	20	0	1	0
chr5	61544207	61544207	T	G	exonic	ZSWIM6	.	nonsynonymous SNV	ZSWIM6:NM_020928:exon14:c.T3538G:p.L1180V,	Acromelic frontonasal dysostosis, Autosomal dominant	.	436	1085	1	0	0	1	0.000460617	.	.	2881497	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.186	B	0.166	B	0.000	D	0.755	N	1.95	M	0.82	T	-0.852	T	0.133	T	0.341	3.962	20.3	-2.11	-0.240	0.075	14.990	0.122	0.0187019783032	.	.	0.0001	0	0	0	0	0.0001	0	0.0003	1.94e-05	3	154602	rs775086998	5.359e-05	5.13e-05	4.23e-05	6.52e-05	0.0004	4.378e-05	3.994e-05	0.0002	0.0002	0	0	0	0	0	0.0004	4.541e-05	1.724e-05	0.0003	1.97e-05	1.968e-05	2.57e-05	1.343e-05	0.0004	5.24e-06	2.45e-06	7.293e-05	3.03e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.121	0.27783	T	0.088	0.40586	T	0.186	0.29254	B	0.166	0.35067	B	0.000424	0.44522	D	0.151544	0.754967	0.29599	N	1.995	0.54099	M	0.82	0.48142	T	-1.42	0.34992	N	0.46	0.49692	-0.8522	0.51816	T	0.133	0.44544	T	10	0.14630741	0.27739	T	0.018702	0.40848	T	0.122	0.33800	.	.	0.0297737177859	0.01360	0.6126464284422759	0.61196	1.29320391004	0.82848	0.870992779732	0.92709	D	0.01034	0.09344	T	-0.350949	0.04667	T	-0.451748	0.27503	T	0.159527334124566	0.17837	T	0.999332	0.99748	D	0.07630858	0.17248	0.11451302	0.27641	0.07630858	0.17248	0.11451302	0.27641	-6.462	0.49992	T	0.3632467547893454	0.45948	0.149	0.33039	B	.	.	2.136043	0.27195	17.38	0.99329519864358651	0.59700	0.85326	0.44448	D	AEFBI	0.245325	0.36628	N	-0.372949753978124	0.26436	1.442804	-0.358755057823734	0.26238	1.448034	0.999742808649777	0.42466	0.706548	0.73137	0	0.588066	0.40923	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.46	-2.11	0.06787	-0.134000	0.10415	-0.703000	0.07785	0.649000	0.52879	0.849000	0.30428	0.016000	0.20520	1.000000	0.97212	0.0:0.7981:0.0:0.2019	14.990	0.71033	609	0.67094	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2131.98	39	chr5	61544207	.	T	G	2131.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.380e-01;DP=1177;ExcessHet=0.0000;FS=1.834;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=-1.117e+00;SOR=0.843	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,108,1800	20	0	1	0
chr5	63960821	63960821	T	C	exonic	HTR1A	.	nonsynonymous SNV	HTR1A:NM_000524:exon1:c.A899G:p.N300S,	Periodic fever, menstrual cycle dependent, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.83	T	0.0	B	0.002	B	0.200	N	0.903	N	0.75	N	0.09	T	-1.010	T	0.097	T	0.08	0.440	6.390	2.77	0.431	0.314	7.635	0.067	0.00532154792882	0.0004	0.000399361	8.31e-05	0.0010	0	0	0	0	0	0	7.76e-05	12	154602	rs150096239	5.131e-05	5.13e-05	5.037e-05	5.226e-05	0.0018	4.192e-05	3.823e-05	0.0014	0.0013	0.0018	2.236e-05	0	0	0	0.0002	0	0.0002	1.159e-05	0.0004	0.0004	0.0004	0.0003	0.0013	0.0003	0.0003	0.0010	0.0009	0.0013	0	0	0	0	0	0	0	0.0005	0	0.311	0.13971	T	0.581	0.08476	T	0.0	0.02946	B	0.002	0.06944	B	0.199945	0.16626	N	0.543177	0.903186	0.27660	N	-0.045	0.04980	N	0.09	0.61443	T	-0.52	0.16187	N	0.059	0.03069	-1.0098	0.26981	T	0.097	0.36471	T	10	0.01633355	0.00344	T	0.005322	0.13618	T	0.067	0.19503	.	.	0.379559396232	0.37572	0.28605119800701184	0.28518	0.501798849962	0.48557	0.37405064702	0.21411	T	0.139801	0.47401	T	-0.531248	0.00378	T	-0.576411	0.14867	T	0.0109967238934782	0.00158	T	0.573743	0.20563	T	0.037499093	0.04818	0.033131592	0.02159	0.037499093	0.04817	0.033131592	0.02159	-2.041	0.03339	T	.	.	0.06	0.00934	B	.	.	1.141042	0.15283	11.73	0.85839391661265296	0.16145	0.78373	0.38657	D	AEFDBHCI	0.366847	0.45451	N	-0.547410584520797	0.20565	1.085026	-0.37154359238871	0.25848	1.424103	0.990138793312823	0.32050	0.652421	0.48094	0	0.547309	0.14657	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	5.17	2.77	0.31614	0.020000	0.13359	0.127000	0.14995	0.665000	0.62972	0.937000	0.32526	0.984000	0.30665	0.979000	0.57723	0.0:0.2623:0.0:0.7377	7.635	0.27431	827	0.39843	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2486.08	33	chr5	63960821	.	T	C	2486.08	.	AC=2;AF=0.048;AN=42;DP=770;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.02;SOR=0.840	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1306	20	1	0	0
chr5	64690726	64690726	T	C	exonic	SHISAL2B	.	nonsynonymous SNV	SHISAL2B:NM_001164442:exon1:c.T103C:p.Y35H,	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.006	N	0.995	D	1.59	L	0.47	T	-0.652	T	0.219	T	0.701	4.460	23.8	4.95	2.079	6.922	12.603	0.376	0.197867733723	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1457929770	7.942e-06	8.209e-06	7.129e-06	8.776e-06	0.0004	4.26e-06	3.12e-06	6.159e-05	2.546e-05	3.175e-05	0	0	0	0	0.0004	7.41e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.006028	0.32324	N	0.297110	0.994863	0.42448	D	.	.	.	0.47	0.56114	T	-4.21	0.75776	D	0.608	0.62526	-0.6522	0.62618	T	0.219	0.58150	T	8	0.587695	0.66204	D	0.197868	0.86562	D	0.376	0.69443	0.55	0.66576	0.130388298395	0.12655	0.6001098019661898	0.59941	0.526464977675	0.50275	0.780022144318	0.78931	T	0.101827	0.40896	T	0.105847	0.64917	D	-0.0702485	0.65609	T	0.994756817817688	0.86243	D	0.756624	0.37993	T	0.66175365	0.75993	0.713626	0.83101	0.66175365	0.75994	0.713626	0.83102	-8.769	0.66198	D	.	.	0.597	0.68751	P	.	.	4.743043	0.76508	26.5	0.99828873815299113	0.91112	0.95521	0.65052	D	AEFDBHCI	0.811073	0.73415	D	0.351446182389343	0.58816	4.056243	0.396392504634252	0.61342	4.332972	0.999999999999318	0.74766	0.437478	0.07067	0	0.563428	0.19063	0	0.504199	0.09095	0	0.603991	0.37454	0	.	.	4.95	4.95	0.64894	5.331000	0.65681	7.598000	0.61467	0.576000	0.29215	1.000000	0.71638	1.000000	0.68203	0.842000	0.39752	0.0:0.0:0.0:1.0	12.603	0.55862	613	0.66686	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1067.98	36	chr5	64690726	.	T	C	1067.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.786;DP=755;ExcessHet=0.0000;FS=1.018;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.51;ReadPosRankSum=-4.480e-01;SOR=0.718	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,948	20	0	1	0
chr5	64844923	64844923	G	T	exonic	CWC27	.	nonsynonymous SNV	CWC27:NM_001318000:exon11:c.G939T:p.R313S,	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0003	0	0	0	0	0	0	0.0005	3.88e-05	6	154602	rs573527906	0.0003	0.0001	0.0002	0.0003	0.0079	0.0002	0.0002	0.0054	0.0045	0.0003	0	0	0	0	0.0079	0.0002	0.0005	0.0005	5.253e-05	5.249e-05	6.425e-05	4.029e-05	0.0004	2.556e-05	1.829e-05	7.301e-05	3.033e-05	0	0	6.534e-05	0	0	0	0	7.351e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1634.98	35	chr5	64844923	.	G	T	1634.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.060e-01;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=-5.500e-02;SOR=0.686	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1252	20	0	1	0
chr5	65781381	65781381	G	A	exonic	NLN	.	nonsynonymous SNV	NLN:NM_020726:exon6:c.G782A:p.R261K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.97	H	-0.38	T	0.617	D	0.659	D	0.901	5.429	35	5.46	2.561	9.420	19.314	0.784	0.220095429307	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.105	0.97342	H	-0.38	0.69027	T	-2.89	0.60665	D	0.925	0.94904	0.617	0.92124	D	0.659	0.88167	D	10	0.93170667	0.92508	D	0.220095	0.87740	D	0.784	0.92827	0.798	0.91802	0.91246113623	0.91157	0.9140086894676622	0.91375	0.545148157709	0.51557	0.630663752556	0.57240	T	0.350344	0.71807	T	0.399879	0.89908	D	0.336622	0.89781	D	0.99978369474411	0.98984	D	0.918508	0.72410	D	0.96499634	0.97778	0.91367346	0.95949	0.96499634	0.97778	0.91367346	0.95950	-13.749	0.92212	D	.	.	0.895	0.82435	P	.;.	.;.	5.087147	0.84935	28.5	0.99680434233624327	0.79241	0.99615	0.98010	D	AEFBI	0.926161	0.90683	D	1.09369753795067	0.98017	17.23992	1.00568811317894	0.98735	19.19314	0.999999994922267	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.46	5.46	0.80021	9.544000	0.97191	11.884000	0.98910	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.314	0.94192	797	0.45241	Peptidase M3A/M3B catalytic domain;Peptidase M3A/M3B catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1156.98	33	chr5	65781381	.	G	A	1156.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.484e+00;DP=771;ExcessHet=0.0000;FS=0.875;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.61;ReadPosRankSum=9.000e-03;SOR=0.562	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1215	20	0	1	0
chr5	66026326	66026326	G	A	exonic	ERBIN	.	nonsynonymous SNV	ERBIN:NM_001006600:exon13:c.G1045A:p.V349M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	0.64	N	2.29	T	-0.559	T	0.238	T	0.762	4.661	25.7	4.93	2.439	9.416	18.511	0.299	0.0733017270381	.	.	8.313e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs754950916	5.556e-06	7.525e-06	0	1.117e-05	4.848e-05	2.39e-06	1.73e-06	1.632e-05	9.63e-06	0	0	0	2.631e-05	0	0	0	5.054e-05	4.848e-05	6.584e-06	6.568e-06	0	1.348e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.015	0.53172	D	0.098	0.44302	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.35	0.58029	T	-2.1	0.50992	N	0.693	0.71765	-0.5595	0.66423	T	0.238	0.60571	T	10	0.5153347	0.62333	D	0.073302	0.71754	D	0.299	0.61955	0.384	0.40298	0.4147015802	0.41088	0.4493127055722811	0.44849	0.407681458203	0.41620	0.813025355339	0.83956	D	0.152374	0.49274	T	0.162581	0.70439	D	-0.00423952	0.70060	D	0.858928620815277	0.50954	D	0.939806	0.77272	D	0.3365851	0.56006	0.2890347	0.54922	0.3365851	0.56006	0.2890347	0.54921	-12.706	0.88346	D	.	.	0.900	0.87171	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.926838	0.81191	27.5	0.9987823086043971	0.95491	0.99734	0.99061	D	AEFBI	0.902895	0.85133	D	0.691990219915548	0.79108	7.008542	0.71850012813678	0.83786	8.11346	0.999999999943026	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.93	4.93	0.64394	9.597000	0.97445	11.786000	0.96242	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.511	0.90866	869	0.31655	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	708.98	34	chr5	66026326	.	G	A	708.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.593e+00;DP=765;ExcessHet=0.0000;FS=1.957;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.45;ReadPosRankSum=0.782;SOR=0.465	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1209	20	0	1	0
chr5	66054451	66054451	C	T	exonic	ERBIN	.	nonsynonymous SNV	ERBIN:NM_001006600:exon21:c.C3133T:p.H1045Y	.	.	436	1046	39	1	0	41	0.0192218	.	.	699142	ERBIN-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.95	T	0.556	P	0.409	B	0.000	D	1.000	D	1.32	L	1.59	T	-1.082	T	0.057	T	0.293	0.630	7.385	3.8	1.311	4.381	11.158	0.036	.	0.0055	0.00319489	0.0071	0.0012	0.0034	0.0001	0.0201	0.0092	0.0143	0.0025	0.0069275	1071	154602	rs142496054	0.0080	0.0080	0.0081	0.0080	0.0130	0.0079	0.0079	0.0106	0.0098	0.0014	0.0049	0.0027	2.519e-05	0.0182	0.0130	0.0086	0.0075	0.0041	0.0070	0.0070	0.0063	0.0077	0.0103	0.0067	0.0065	0.0090	0.0085	0.0011	0.0011	0.0103	0.0029	0.0004	0.0205	0.0102	0.0087	0.0076	0.0041	0.202	0.26192	T	0.936	0.02725	T	0.001	0.38076	B	0.001	0.44752	B	0.000430	0.44522	D	0.233896	0.968849	0.81001	D	.	.	.	1.4	0.37230	T	-1.06	0.27669	N	0.21	0.34767	-1.0818	0.07003	T	0.057	0.23904	T	10	0.0052889585	0.00116	T	.	.	.	0.036	0.09122	.	.	0.043077524339	0.03247	0.23617138195608345	0.23532	0.17845421502	0.20078	0.520014822483	0.41629	T	0.026122	0.19398	T	-0.44926	0.01141	T	-0.408712	0.32375	T	0.0327549083695503	0.02430	T	0.949755	0.80719	D	0.059305694	0.12037	0.077869184	0.17388	0.059305694	0.12036	0.077869184	0.17387	-3.511	0.24236	T	.	.	0.121	0.33573	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.045860	0.40854	21.2	0.95663696698175138	0.27496	0.97922	0.78147	D	AEFBI	0.701588	0.65823	D	-0.105461591648689	0.37153	2.157553	0.0248738627495247	0.40873	2.446292	0.999440304113357	0.39736	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.67	3.8	0.42887	4.455000	0.59813	4.017000	0.41215	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.134:0.7981:0.0:0.0679	11.158	0.47723	804	0.43891	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1986.98	34	chr5	66054451	.	C	T	1986.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.206e+00;DP=877;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=-6.000e-02;SOR=0.743	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,111,1188	20	0	1	0
chr5	66054589	66054589	C	T	exonic	ERBIN	.	nonsynonymous SNV	ERBIN:NM_001006600:exon21:c.C3271T:p.P1091S	.	.	.	.	.	.	.	.	.	.	.	1591976	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.72	T	0.001	B	0.005	B	0.001	N	1.000	N	1.15	L	1.55	T	-1.029	T	0.043	T	0.042	-0.941	0.359	4.26	1.106	0.308	2.271	0.085	0.00336252834261	0.0024	0.00159744	0.0006	0.0070	0.0003	0	0	1.499e-05	0	0	0.0005692	88	154602	rs114722905	0.0003	0.0003	0.0003	0.0002	0.0096	0.0002	0.0002	0.0088	0.0084	0.0096	0.0004	0	0	0	0.0007	1.169e-05	0.0006	2.319e-05	0.0021	0.0021	0.0023	0.0019	0.0073	0.0019	0.0018	0.0067	0.0064	0.0073	0	0.0005	0	0	0	0	1.47e-05	0.0024	0.0002	0.149	0.24758	T	0.482	0.11829	T	0.0	0.07471	B	0.002	0.11217	B	0.000607	0.42945	N	0.198335	1	0.08975	N	.	.	.	1.37	0.38883	T	-0.98	0.37375	N	0.032	0.01421	-1.0293	0.20681	T	0.043	0.18451	T	10	0.0030222237	0.00049	T	0.003363	0.07512	T	0.085	0.24743	.	.	0.043077524339	0.03247	0.2209320384851939	0.22008	0.0675188452002	0.07548	0.294842779636	0.09635	T	0.033871	0.23092	T	-0.641049	0.00082	T	-0.688893	0.06453	T	0.0028711292125237	0.00030	T	0.859914	0.55237	D	0.02406158	0.01201	0.031574674	0.01765	0.02406158	0.01201	0.031574674	0.01765	-3.621	0.21794	T	.	.	0.072	0.05404	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.368487	0.17782	13.37	0.87441522226286938	0.17230	0.15503	0.18944	N	AEFBI	0.125004	0.24132	N	-0.650430985998648	0.17448	0.8979047	-0.557037548282226	0.20619	1.11173	0.891749703756379	0.25867	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.15	4.26	0.49832	0.327000	0.19408	2.013000	0.30174	0.599000	0.40250	0.129000	0.23328	0.009000	0.19889	0.540000	0.29938	0.1398:0.4307:0.2623:0.1671	2.271	0.03840	804	0.43891	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2290.98	40	chr5	66054589	.	C	T	2290.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.81;DP=989;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.49;ReadPosRankSum=-1.391e+00;SOR=0.657	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr5	67165563	67165563	G	C	exonic	MAST4	.	nonsynonymous SNV	MAST4:NM_001290227:exon26:c.G5601C:p.R1867S	.	.	422	1099	1	0	0	1	0.000454752	.	.	699146	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.18	T	0.328	B	0.085	B	0.047	N	1.000	N	0.55	N	-0.38	T	-0.985	T	0.094	T	0.205	2.123	13.06	1.32	0.035	0.207	7.252	0.009	.	0.0059	0.00519169	0.0017	0.0199	0.0005	0	0	7.628e-05	0.0011	0	0.0016365	253	154602	rs77191584	0.0006	0.0006	0.0007	0.0005	0.0193	0.0005	0.0005	0.0181	0.0176	0.0193	0.0007	0	0	0	0.0005	7.105e-05	0.0013	4.638e-05	0.0056	0.0056	0.0058	0.0054	0.0197	0.0053	0.0052	0.0186	0.0181	0.0197	0	0.0016	0	0	0	0	0.0001	0.0019	0	0.001	0.78490	D	0.009	0.67890	D	0.328	0.33195	B	0.085	0.29395	B	0.046962	0.01967	N	1.955400	1	0.08975	N	.	.	.	-0.39	0.69287	T	-0.97	0.25770	N	0.055	0.05542	-0.9848	0.33879	T	0.094	0.35578	T	10	0.002568841	0.00039	T	.	.	.	0.051	0.14325	.	.	0.376745185316	0.37282	0.05054560425412593	0.04997	0.206603004611	0.23089	0.281056523323	0.07639	T	.	.	.	-0.44693	0.01177	T	-0.399165	0.33482	T	0.00896891655121351	0.00112	T	0.905909	0.66829	D	0.16694202	0.37061	0.10023215	0.23959	0.16694202	0.37060	0.10023215	0.23958	-3.192	0.12383	T	.	.	0.173	0.52010	B	.;.;.;.	.;.;.;.	1.077786	0.14608	11.17	0.93627708499837492	0.23499	0.25063	0.22586	N	AEFDBCI	0.083715	0.16962	N	-0.988510099806699	0.08849	0.4164796	-1.00219556992822	0.09737	0.4861756	0.999960281251308	0.48965	0.700653	0.57754	0	0.610034	0.51514	0	0.717052	0.78885	0	0.711	0.71501	0	.	.	5.73	1.32	0.20897	0.220000	0.17445	0.392000	0.17901	-0.113000	0.14837	0.025000	0.20085	0.012000	0.20211	0.052000	0.15357	0.6113:0.0:0.3887:0.0	7.252	0.25331	939	0.14249	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2878.08	38	chr5	67165563	.	G	C	2878.08	.	AC=2;AF=0.048;AN=42;DP=916;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.30;SOR=0.848	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1464	20	1	0	0
chr5	67166315	67166315	A	G	exonic	MAST4	.	nonsynonymous SNV	MAST4:NM_001290227:exon26:c.A6353G:p.Y2118C	.	.	417	1104	1	0	0	1	0.000452694	.	.	699147	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.997	D	0.874	P	0.746	N	1.000	D	0.975	L	-0.69	T	-0.377	T	0.245	T	0.48	2.688	14.95	4.69	1.961	2.765	14.310	0.310	.	0.0062	0.00519169	0.0037	0.0352	0.0020	0	0	0.0003	0.0035	0	0.0014424	223	154602	rs138020214	0.0006	0.0006	0.0007	0.0005	0.0195	0.0006	0.0005	0.0183	0.0178	0.0195	0.0008	0	0	0	0.0005	7.114e-05	0.0015	6.099e-05	0.0057	0.0057	0.0059	0.0055	0.0200	0.0054	0.0053	0.0189	0.0184	0.0200	0	0.0016	0	0	0	0	0.0001	0.0019	0	0.0	0.91255	D	0.015	0.63109	D	0.997	0.70673	D	0.874	0.62049	P	0.746279	0.09736	N	0.861242	0.814071	0.34682	D	.	.	.	-0.7	0.72994	T	-2.85	0.60029	D	0.355	0.42050	-0.3765	0.72761	T	0.245	0.61366	T	10	0.0055072904	0.00122	T	.	.	.	0.310	0.63162	.	.	0.742678573834	0.74036	0.02860765780235277	0.02810	0.274519964624	0.29946	0.393145531416	0.24111	T	.	.	.	-0.28867	0.09769	T	-0.171835	0.57275	T	0.060605130550564	0.07263	T	0.862314	0.55722	D	0.30652663	0.53484	0.21110395	0.45525	0.30652663	0.53484	0.21110395	0.45524	-1.644	0.02087	T	.	.	0.120	0.60920	B	.;.;.;.	.;.;.;.	3.160920	0.42825	21.6	0.99552313878607435	0.71211	0.78633	0.38824	D	ALL	0.434764	0.49568	N	0.231323824044654	0.52723	3.444643	0.184978974922377	0.49024	3.110662	1.0	0.98316	0.714207	0.82060	0	0.573149	0.20659	1	0.666236	0.60216	0	0.616919	0.45865	0	.	.	4.69	4.69	0.58546	2.766000	0.47312	3.836000	0.40018	0.756000	0.94297	0.985000	0.35982	0.981000	0.30433	0.242000	0.23054	1.0:0.0:0.0:0.0	14.310	0.65963	938	0.14419	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4293.08	38	chr5	67166315	.	A	G	4293.08	.	AC=2;AF=0.048;AN=42;DP=955;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=34.07;SOR=1.430	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1464	20	1	0	0
chr5	69311153	69311153	C	A	exonic	CCDC125	.	nonsynonymous SNV	CCDC125:NM_001297696:exon4:c.G415T:p.G139C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	0.999	D	1.04	L	0.76	T	-0.743	T	0.200	T	0.808	3.210	16.75	4.61	1.331	3.228	12.020	0.300	0.0619861606488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.68238	D	0.007	0.92824	D	0.998	0.90584	D	0.976	0.97372	D	0.000001	0.84330	D	0.054094	0.998449	0.47237	D	2.625	0.76847	M	0.76	0.49919	T	-6.11	0.90023	D	0.708	0.73916	-0.7425	0.58324	T	0.200	0.55541	T	10	0.54208964	0.63777	D	0.061986	0.68507	D	0.300	0.62068	0.195	0.10705	0.165133752707	0.16062	0.339706962852607	0.33883	0.243934458103	0.26902	0.559532821178	0.47202	T	0.238428	0.72107	T	0.128121	0.67178	D	-0.0537399	0.66765	D	0.986595153808594	0.77273	D	.	.	.	0.6096633	0.73210	0.42577276	0.66376	0.6096633	0.73211	0.42577276	0.66376	-12.809	0.88560	D	.	.	0.619	0.69657	P	.;.;.;.	.;.;.;.	4.231117	0.64072	24.7	0.99559064824812771	0.71645	0.85071	0.44174	D	AEFBI	0.579871	0.58050	D	0.252662408288359	0.53769	3.544557	0.254407861883821	0.52900	3.461883	0.0805244858623903	0.15848	0.732398	0.92422	0	0.743671	0.97443	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.48	4.61	0.56724	3.610000	0.53874	4.816000	0.45080	-0.272000	0.06708	1.000000	0.71638	1.000000	0.68203	0.931000	0.46843	0.0:0.9157:0.0:0.0843	12.020	0.52629	976	0.04745	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1134.98	33	chr5	69311153	.	C	A	1134.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.740e-01;DP=803;ExcessHet=0.0000;FS=1.609;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.58;ReadPosRankSum=0.096;SOR=0.615	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1269	20	0	1	0
chr5	69365169	69365169	T	C	exonic	TAF9	.	nonsynonymous SNV	TAF9:NM_001015892:exon3:c.A569G:p.Q190R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.972	D	0.786	P	0.000	D	1.000	D	1.975	M	1.46	T	-0.699	T	0.225	T	0.612	3.844	19.52	5.78	2.343	6.914	14.374	0.117	0.0175474401166	.	.	.	.	.	.	.	.	.	.	.	.	.	rs986960104	1.163e-05	1.163e-05	8.167e-06	1.513e-05	1.439e-05	7.08e-06	5.79e-06	8.52e-06	6.89e-06	0	0	0	0	0	0	1.439e-05	1.656e-05	0	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.086	0.54683	T	0.414	0.14369	T	0.972	0.57405	D	0.786	0.57542	P	0.000000	0.84330	D	0.000000	0.99997	0.81001	D	1.79	0.46772	L	1.46	0.46777	T	-0.66	0.19085	N	0.676	0.68342	-0.6989	0.60491	T	0.225	0.58919	T	10	0.35752624	0.52466	T	0.017547	0.39293	T	0.117	0.32689	0.303	0.27164	0.821461722733	0.81977	0.7266245985433606	0.72606	0.926389579969	0.71662	0.568622350693	0.48483	T	0.167856	0.51463	T	-0.0069934	0.50687	T	-0.247822	0.50032	T	0.702467355083697	0.40836	D	.	.	.	0.36679056	0.58347	0.36105454	0.61536	0.36679056	0.58347	0.36105454	0.61536	-3.314	0.13919	T	.	.	0.335	0.55829	B	.;.;.;.	.;.;.;.	3.214330	0.43764	21.8	0.99624523979379509	0.75655	0.97355	0.74226	D	AEFDGBHCI	0.869910	0.79065	D	0.693264702398184	0.79190	7.025853	0.710553696941672	0.83182	7.954564	0.999999999929346	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.78	5.78	0.91418	6.961000	0.75837	6.973000	0.57097	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:0.0:1.0	14.374	0.66427	976	0.04745	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1778.98	33	chr5	69365169	.	T	C	1778.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.235e+00;DP=832;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=1.05;QD=13.08;ReadPosRankSum=-2.240e-01;SOR=0.728	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1290	20	0	1	0
chr5	69386095	69386095	G	C	exonic	RAD17	.	nonsynonymous SNV	RAD17:NM_133339:exon6:c.G731C:p.R244T	.	.	.	.	.	.	.	.	.	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.991	D	0.869	P	0.000	D	1.000	D	2.555	M	2.25	T	-0.560	T	0.244	T	0.804	4.197	21.8	4.8	1.518	8.597	14.792	0.344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.40573	D	0.058	0.48336	T	0.958	0.64070	D	0.793	0.61749	P	0.000000	0.84330	D	0.041288	1	0.81001	D	2.655	0.77738	M	2.25	0.45636	T	-3.86	0.74821	D	0.88	0.95139	-0.5601	0.66400	T	0.244	0.61272	T	10	0.887828	0.88116	D	0.091693	0.75753	D	0.344	0.66582	0.715	0.85051	0.618819884562	0.61573	0.7433956115513971	0.74285	0.388650570179	0.40129	0.556141376495	0.46723	T	0.188556	0.54250	T	0.135558	0.67900	D	-0.0430562	0.67495	D	0.989339768886566	0.79577	D	0.906109	0.66926	D	0.4582209	0.64560	0.3409298	0.59839	0.4582209	0.64560	0.3409298	0.59838	-13.172	0.90058	D	.	.	0.529	0.67894	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	6.426927	0.95193	34	0.9818322802681656	0.38967	0.99640	0.98249	D	AEFBI	0.923775	0.90078	D	0.739316462212112	0.82208	7.706102	0.711827815095699	0.83277	7.979677	0.823624580608715	0.24568	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.67	4.8	0.61157	8.760000	0.91349	11.623000	0.93636	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1452:0.8548:0.0	14.792	0.69476	976	0.04745	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	950.98	33	chr5	69386095	.	G	C	950.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.540e+00;DP=771;ExcessHet=0.0000;FS=0.854;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.19;ReadPosRankSum=1.21;SOR=0.826	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1080	20	0	1	0
chr5	69509191	69509191	A	G	exonic	OCLN	.	nonsynonymous SNV	OCLN:NM_001205254:exon3:c.A101G:p.H34R	Band-like calcification with simplified gyration and polymicrogyria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.09	B	0.068	B	0.000	D	1.000	D	1.04	L	-0.97	T	-0.718	T	0.274	T	0.554	1.432	10.73	6.04	2.317	2.858	15.571	0.237	0.0122523901426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.231e-05	1.3e-05	1.361e-05	1.1e-05	1.619e-05	7.7e-06	6.35e-06	1.012e-05	8.35e-06	0	0	0	0	0	0	1.619e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	0.13522	T	0.528	0.10173	T	0.09	0.25173	B	0.068	0.27651	B	0.000009	0.62929	D	0.108710	0.996436	0.81001	D	0.6	0.15550	N	-0.97	0.75670	T	-1.23	0.31170	N	0.225	0.25253	-0.7184	0.59541	T	0.274	0.64525	T	10	0.1652019	0.30885	T	0.012252	0.30654	T	0.237	0.54074	0.224	0.14813	0.724037271485	0.72160	0.6847371328480403	0.68412	0.0665289231981	0.07418	0.61613124609	0.55181	T	0.130833	0.45996	T	0.0227651	0.54755	T	-0.205076	0.54165	T	0.375588268041611	0.28013	T	0.611839	0.23263	T	0.08631524	0.20058	0.11328334	0.27340	0.08631524	0.20058	0.11328334	0.27339	-2.791	0.08101	T	.	.	0.092	0.13783	B	.;.	.;.	2.272502	0.29051	18.00	0.96807951261412895	0.31176	0.93571	0.58581	D	AEFBI	0.293109	0.40381	N	-0.133643317732878	0.35933	2.070357	0.0488868870569282	0.42017	2.53423	0.999999811379483	0.74766	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.04	6.04	0.98025	2.961000	0.48861	9.392000	0.80586	0.756000	0.94297	0.990000	0.36992	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	15.571	0.76078	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1576.98	34	chr5	69509191	.	A	G	1576.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.496e+00;DP=855;ExcessHet=0.0000;FS=1.266;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.31;ReadPosRankSum=0.937;SOR=0.818	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1296	20	0	1	0
chr5	71061294	71061294	T	C	exonic	GTF2H2;GTF2H2C_2	.	nonsynonymous SNV	GTF2H2C_2:NM_001354437:exon4:c.A149G:p.H50R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.001	B	0.000	D	1.000	D	0	N	1.63	T	-1.065	T	0.029	T	0.222	-1.161	0.095	2.52	1.390	4.721	5.657	0.053	0.00625579747303	.	0.00119808	0.0002	0.0014	0	0	0	0	0	0	0.0002305	6	26028	rs530061957	0.0001	0.0001	0.0001	0.0001	0.0032	9.206e-05	8.636e-05	0.0027	0.0025	0.0032	0.0003	0	0	0	0.0004	3.866e-06	0.0004	4.954e-05	0.0008	0.0009	0.0009	0.0007	0.0025	0.0007	0.0006	0.0021	0.0020	0.0025	0	0.0007	0	0	0	0	1.543e-05	0	0	0.527	0.07093	T	0.557	0.10173	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.048217	0.99908	0.81001	D	0.145	0.08828	N	1.63	0.28002	T	0.73	0.02068	N	0.441	0.47949	-1.0649	0.10572	T	0.029	0.12673	T	10	0.011872292	0.00258	T	0.006256	0.16406	T	0.053	0.14996	.	.	0.117191471859	0.11215	0.3619918016625109	0.36113	1.94237216001	0.93242	0.828367233276	0.86312	D	0.069045	0.33611	T	-0.519703	0.00442	T	-0.549373	0.17387	T	0.014760396698245	0.00309	T	0.768523	0.41468	T	0.33382756	0.55782	0.16575076	0.38327	0.33382756	0.55782	0.16575076	0.38326	-5.165	0.38584	T	.	.	0.065	0.02370	B	.;.;.	.;.;.	3.420659	0.47492	22.5	0.3030303053329767	0.01650	0.90062	0.50950	D	AEFI	0.495218	0.53068	N	-0.544583507038703	0.20653	1.090378	-0.396678900275615	0.25095	1.378	6.75170049165851E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	2.52	2.52	0.29514	4.816000	0.62333	6.212000	0.55024	0.450000	0.21304	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1394:0.0:0.8606	5.657	0.16924	958	0.09170	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3611.98	33	chr5	71061294	.	T	C	3611.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.31;DP=852;ExcessHet=0.0000;FS=2.637;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=45.43;MQRankSum=8.70;QD=20.41;ReadPosRankSum=-2.460e+00;SOR=1.052	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1309	20	0	1	0
chr5	71109300	71109300	C	T	exonic	NAIP	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482181409	0.0008	0.0007	0.0009	0.0007	0.0201	0.0007	0.0007	0.0187	0.0182	0.0201	0.0009	0	0	0	0.0003	1.211e-05	0.0016	0.0002	0.0062	0.0056	0.0066	0.0058	0.0169	0.0058	0.0056	0.0158	0.0153	0.0169	0	0.0017	0	0	0	0	4.961e-05	0.0045	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	809.98	20	chr5	71109300	.	C	T	809.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.184e+00;DP=750;ExcessHet=0.0000;FS=1.127;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=29.98;MQRankSum=-4.820e-01;QD=13.28;ReadPosRankSum=-2.180e-01;SOR=0.521	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,99,1485	20	0	1	0
chr5	72196462	72196462	C	T	exonic	MAP1B	.	nonsynonymous SNV	MAP1B:NM_001324255:exon4:c.C2729T:p.P910L	.	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.001	B	0.0	B	0.425	N	0.998	N	0	N	4.13	T	-0.927	T	0.007	T	0.146	-1.014	0.240	3.78	1.504	1.622	13.676	0.064	0.0125555445565	0.0002	.	6.589e-05	9.612e-05	0.0004	0	0	2.997e-05	0	0	5.17e-05	8	154602	rs145156470	6.021e-05	6.156e-05	7.351e-05	4.676e-05	0.0003	4.962e-05	4.627e-05	0.0001	7.816e-05	2.987e-05	0.0002	0	2.519e-05	0	0.0003	6.295e-05	4.967e-05	2.319e-05	3.951e-05	3.942e-05	1.286e-05	6.745e-05	9.682e-05	1.718e-05	1.131e-05	3.256e-05	1.919e-05	9.682e-05	0	6.557e-05	0	0	0	0	1.471e-05	0	0	0.004	0.65419	D	0.403	0.14865	T	0.001	0.07471	B	0.0	0.01387	B	0.425348	0.12818	N	0.732217	0.997773	0.22513	N	1.245	0.31408	L	4.13	0.02865	T	-0.15	0.09297	N	0.152	0.15609	-0.9275	0.44502	T	0.007	0.02439	T	10	0.053039968	0.05431	T	0.012556	0.31241	T	0.064	0.18567	.	.	0.123314135267	0.11883	0.19667287400635444	0.19584	0.26911471461	0.29430	0.378071308136	0.21982	T	0.083212	0.37003	T	-0.457698	0.01016	T	-0.597668	0.13008	T	0.0573870536923622	0.06750	T	0.665133	0.27420	T	0.035099607	0.04068	0.050351355	0.07886	0.035099607	0.04068	0.050351355	0.07885	-4.025	0.24177	T	.	.	0.097	0.15832	B	.	.	1.938731	0.24623	16.47	0.35991211744591839	0.02290	0.74260	0.36325	D	AEFBI	0.182547	0.30988	N	-0.712244085531622	0.15677	0.7921748	-0.585505109559241	0.19870	1.068076	0.999966401204547	0.48965	0.732398	0.92422	0	0.627178	0.54094	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.86	3.78	0.42629	1.367000	0.33809	2.101000	0.30604	-0.171000	0.11205	0.639000	0.28076	0.965000	0.29475	0.023000	0.12082	0.0:0.8515:0.0:0.1485	13.676	0.61931	234	0.90879	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	945.98	56	chr5	72196462	.	C	T	945.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=1028;ExcessHet=0.0000;FS=0.783;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.56;ReadPosRankSum=-1.325e+00;SOR=0.557	GT:AD:DP:GQ:PL	0/0:65,0:65:99:0,120,1800	20	0	1	0
chr5	72198495	72198495	G	A	exonic	MAP1B	.	nonsynonymous SNV	MAP1B:NM_001324255:exon4:c.G4762A:p.D1588N	.	.	.	.	.	.	.	.	.	.	.	3288505	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.13	T	0.799	P	0.343	B	0.023	N	0.997	D	0	N	3.97	T	-0.674	T	0.008	T	0.051	2.441	14.12	4.47	2.491	6.924	12.756	0.160	0.0147285593658	.	.	5.767e-05	0	0	0	0	1.499e-05	0	0.0004	4.53e-05	7	154602	rs371216590	2.326e-05	2.326e-05	9.53e-06	3.713e-05	0.0003	1.674e-05	1.478e-05	0.0002	0.0002	0	0	0	0	0	0.0003	4.496e-06	1.656e-05	0.0003	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.173	0.22573	T	0.283	0.21478	T	0.799	0.44910	P	0.343	0.42509	B	0.022692	0.26585	N	0.327243	0.997122	0.43648	D	-0.345	0.03330	N	3.97	0.03326	T	-0.5	0.15782	N	0.197	0.21710	-0.6744	0.61629	T	0.008	0.02842	T	10	0.11747432	0.22187	T	0.014729	0.35036	T	0.160	0.41473	0.053	0.00123	0.393040851499	0.38920	0.24179215361159287	0.24093	0.783335030634	0.65391	0.623025178909	0.56157	T	0.090249	0.38544	T	-0.505769	0.00530	T	-0.67213	0.07472	T	0.205697030269748	0.20727	T	0.855914	0.54393	D	0.06763022	0.14661	0.05058491	0.07968	0.06763022	0.14661	0.05058491	0.07967	-4.755	0.34062	T	.	.	0.197	0.41888	B	.	.	4.344576	0.66682	25.0	0.9938561012673589	0.62113	0.97306	0.73923	D	AEFBCI	0.737308	0.68254	D	0.215432204125753	0.51946	3.37217	0.328954396723702	0.57246	3.889819	0.999999991015583	0.74766	0.706548	0.73137	0	0.563428	0.19063	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.47	4.47	0.53770	7.233000	0.77589	11.889000	0.99041	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.8359:0.1641	12.756	0.56708	234	0.90879	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2325.98	56	chr5	72198495	.	G	A	2325.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.446e+00;DP=1324;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=1.01;SOR=0.689	GT:AD:DP:GQ:PL	0/0:65,0:65:99:0,120,1800	20	0	1	0
chr5	72198867	72198867	T	C	exonic	MAP1B	.	nonsynonymous SNV	MAP1B:NM_001324255:exon4:c.T5134C:p.F1712L	.	.	429	1090	3	0	0	3	0.00137426	.	.	709987	MAP1B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.18	T	0.001	B	0.001	B	0.024	N	0.621	N	0.345	N	3.99	T	-1.045	T	0.005	T	0.277	1.432	10.73	5.12	2.071	1.790	6.877	0.101	.	0.0004	0.00519169	0.0015	0.0004	0.0079	0.0066	0.0008	0.0002	0.0022	0.0007	0.001727	267	154602	rs139319889	0.0007	0.0007	0.0007	0.0007	0.0104	0.0007	0.0007	0.0096	0.0093	0.0003	0.0104	0	0.0047	0.0009	0.0003	0.0002	0.0013	0.0008	0.0017	0.0017	0.0015	0.0019	0.0114	0.0015	0.0015	0.0100	0.0095	0.0005	0	0.0114	0	0.0048	0.0006	0	0.0004	0	0.0012	0.046	0.40573	D	0.873	0.03286	T	0.0	0.02946	B	0.001	0.04355	B	0.024003	0.26338	N	0.332987	0.621055	0.30779	N	0.805	0.20218	L	3.99	0.03268	T	-0.31	0.12099	N	0.251	0.28381	-1.0454	0.15709	T	0.005	0.01797	T	10	0.005590737	0.00124	T	.	.	.	0.101	0.28911	0.277	0.23004	0.273495378476	0.26946	0.307468957402968	0.30659	0.511365231531	0.49213	0.565193653107	0.47999	T	0.116929	0.43663	T	-0.553825	0.00277	T	-0.55792	0.16572	T	0.0103781482828968	0.00142	T	0.721828	0.33531	T	0.06587636	0.14122	0.071209885	0.15221	0.06587636	0.14122	0.071209885	0.15221	-2.128	0.03706	T	.	.	0.431	0.61244	A	.	.	2.821300	0.37167	20.4	0.98112584122227597	0.38367	0.75910	0.37193	D	AEBCI	0.090468	0.18332	N	-0.309816186786301	0.28774	1.589948	-0.124024472872625	0.34424	1.979981	0.999996558428913	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.12	5.12	0.69459	1.772000	0.38182	6.228000	0.55194	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:0.1377:0.0:0.8623	6.877	0.23337	234	0.90879	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2591.98	56	chr5	72198867	.	T	C	2591.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1380;ExcessHet=0.0000;FS=1.763;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.36;ReadPosRankSum=0.275;SOR=0.864	GT:AD:DP:GQ:PL	0/0:65,0:65:99:0,120,1800	20	0	1	0
chr5	72456495	72456495	T	C	exonic	ZNF366	.	nonsynonymous SNV	ZNF366:NM_152625:exon3:c.A1433G:p.Q478R,	.	.	.	.	.	.	.	.	.	.	.	3357675	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.999	D	0.979	D	0.002	N	1.000	D	1.18	L	3.2	T	-1.167	T	0.049	T	0.765	4.835	27.5	5.68	2.185	8.040	15.972	0.321	0.0170091705034	.	.	6.59e-05	0	0	0	0	2.997e-05	0	0.0004	5.17e-05	8	154602	rs745560582	2.6e-05	2.599e-05	1.225e-05	3.988e-05	0.0003	1.933e-05	1.692e-05	0.0002	0.0002	0	0	0	0	0	0.0003	7.195e-06	3.312e-05	0.0003	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.061	0.37118	T	0.034	0.52727	D	0.999	0.77913	D	0.979	0.74454	D	0.002016	0.37457	N	0.190765	1	0.81001	D	0.425	0.12573	N	3.2	0.07236	T	-2.83	0.59710	D	0.717	0.71942	-1.1672	0.00595	T	0.049	0.21026	T	10	0.69262	0.71948	D	0.017009	0.38529	T	0.321	0.64318	0.524	0.62818	0.732035667196	0.72965	0.6784323814528073	0.67782	1.55229918179	0.87922	0.877080321312	0.93564	D	0.015101	0.12732	T	-0.168331	0.25488	T	-0.187424	0.55831	T	0.335184305906296	0.26432	T	0.836816	0.50885	T	0.306566	0.53487	0.2977957	0.55813	0.306566	0.53487	0.2977957	0.55812	-10.526	0.76996	D	.	.	0.493	0.64256	A	.	.	4.315825	0.66008	24.9	0.99825631955135852	0.90764	0.96991	0.72062	D	AEFDBHCI	0.956630	0.97529	D	0.689210380351839	0.78925	6.970884	0.716686168784428	0.83645	8.076636	1.0	0.98316	0.65861	0.49226	0	0.588066	0.40923	0	0.68496	0.61776	0	0.345915	0.05782	2	.	.	5.68	5.68	0.88021	8.017000	0.88732	7.858000	0.71298	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.972	0.79816	820	0.40914	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1172.98	33	chr5	72456495	.	T	C	1172.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.090e+00;DP=804;ExcessHet=0.0000;FS=0.693;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.94;ReadPosRankSum=0.210;SOR=0.585	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1168	20	0	1	0
chr5	73173564	73173564	G	T	exonic	TMEM174	.	nonsynonymous SNV	TMEM174:NM_153217:exon1:c.G321T:p.R107S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.822	P	0.359	B	0.000	D	1.000	N	0.345	N	.	.	-1.061	T	0.041	T	0.706	2.449	14.15	4.98	2.865	1.588	5.839	0.172	0.00367737515527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.32296	T	0.294	0.20745	T	0.822	0.45767	P	0.359	0.43123	B	0.000256	0.46924	D	0.221657	0.999998	0.08975	N	2.52	0.73523	M	.	.	.	-3.13	0.63901	D	0.212	0.23632	-1.0609	0.11532	T	0.041	0.17785	T	9	0.1558232	0.29360	T	0.003677	0.08496	T	0.172	0.43662	0.213	0.13210	0.139678290688	0.13603	0.4921291101683583	0.49133	0.17236822049	0.19412	0.426930189133	0.28789	T	0.074841	0.35035	T	0.132964	0.67650	D	-0.0467823	0.67242	D	0.983986973762512	0.75452	D	0.644736	0.25622	T	0.23104158	0.45870	0.26167688	0.51949	0.23104158	0.45870	0.26167688	0.51948	-2.774	0.07946	T	.	.	0.195	0.41618	B	.	.	3.022840	0.40463	21.2	0.99590880954807703	0.73572	0.51474	0.28904	D	AEFBI	0.196723	0.32368	N	0.153552515236288	0.48981	3.103689	0.252081064575325	0.52767	3.449451	0.24526048276675	0.18618	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	6.02	4.98	0.65679	1.630000	0.36693	4.435000	0.43365	0.676000	0.76740	0.965000	0.33920	1.000000	0.68203	0.408000	0.26961	0.1092:0.1304:0.6265:0.1338	5.839	0.17878	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2188.98	33	chr5	73173564	.	G	T	2188.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.787;DP=887;ExcessHet=0.0000;FS=6.155;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=0.548;SOR=1.127	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1273	20	0	1	0
chr5	73173856	73173856	G	A	exonic	TMEM174	.	nonsynonymous SNV	TMEM174:NM_153217:exon1:c.G613A:p.G205S,	.	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.021	B	0.005	B	0.955	N	1.000	N	0.665	N	.	.	-1.020	T	0.020	T	0.018	-0.321	2.473	-1.99	-0.279	-0.298	6.403	0.066	.	0.0068	0.00559105	0.0019	0.0206	0.0005	0	0	3.023e-05	0	0.0003	0.0017335	268	154602	rs74385846	0.0006	0.0006	0.0006	0.0005	0.0200	0.0005	0.0005	0.0187	0.0182	0.0200	0.0011	0	0	0	0.0016	1.351e-05	0.0012	0.0001	0.0058	0.0058	0.0060	0.0055	0.0200	0.0054	0.0053	0.0189	0.0185	0.0200	0	0.0023	0	0	0	0	1.47e-05	0.0028	0.0006	0.823	0.02936	T	1.0	0.01155	T	0.021	0.18474	B	0.005	0.11217	B	0.955459	0.08259	N	0.980801	1	0.08975	N	1.3	0.32576	L	.	.	.	-0.49	0.15578	N	0.157	0.16308	-1.0204	0.23584	T	0.020	0.08220	T	9	0.004409641	0.00090	T	.	.	.	0.066	0.19193	.	.	0.0138822411134	0.00435	0.25424125139263026	0.25338	0.0204084159912	0.02005	0.219857722521	0.01302	T	0.003182	0.02586	T	-0.684533	0.00045	T	-0.739804	0.03898	T	0.00253129469378619	0.00026	T	0.408059	0.10511	T	0.031976923	0.03136	0.045321032	0.06073	0.031976923	0.03136	0.045321032	0.06073	-2.64	0.06813	T	.	.	0.075	0.05491	B	.	.	-0.047931	0.03964	0.890	0.29962312429044852	0.01615	0.03814	0.09150	N	AEFBCI	0.042522	0.06607	N	-1.21382497081516	0.04799	0.2173468	-1.25553929542204	0.05049	0.239687	0.0235907214399438	0.13518	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	-1.99	0.07047	-0.135000	0.10399	0.079000	0.14366	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.601:0.0:0.232:0.167	6.403	0.20853	798	0.45050	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3745.08	33	chr5	73173856	.	G	A	3745.08	.	AC=2;AF=0.048;AN=42;DP=810;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.01;SOR=0.856	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1273	20	1	0	0
chr5	73447402	73447429	CGGCGGCCGCGCCGTGCGGTGGCGGGGG	-	exonic	FOXD1	.	frameshift deletion	FOXD1:NM_004472:exon1:c.934_961del:p.P312Sfs*252,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	53.44	2	chr5	73447401	.	TCGGCGGCCGCGCCGTGCGGTGGCGGGGG	T	53.44	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-5.240e-01;DP=146;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0840;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=6.68;ReadPosRankSum=0.524;SOR=0.693	GT:AD:DP:GQ:PL	0/0:8,0:8:24:0,24,223	19	0	1	1
chr5	73753050	73753050	A	G	exonic	ARHGEF28	.	nonsynonymous SNV	ARHGEF28:NM_001080479:exon4:c.A323G:p.N108S	.	.	432	1076	14	0	0	14	0.00646353	.	.	795718	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.06	T	0.044	B	0.009	B	.	.	1.000	N	0	N	3.27	T	-0.974	T	0.012	T	0.027	0.614	7.303	3.29	0.899	1.189	6.603	0.038	.	0.0030	0.00259585	0.0037	0.0010	0.0024	0	0.0116	0.0033	0.0067	0.0066	0.003053	472	154602	rs202122468	0.0034	0.0034	0.0034	0.0035	0.0059	0.0033	0.0033	0.0054	0.0053	0.0006	0.0027	0.0010	5.048e-05	0.0093	0.0026	0.0033	0.0032	0.0059	0.0030	0.0030	0.0026	0.0035	0.0044	0.0028	0.0027	0.0029	0.0028	0.0007	0	0.0024	0.0006	0.0002	0.0132	0.0068	0.0033	0.0028	0.0044	0.153	0.25355	T	0.356	0.17425	T	0.044	0.21686	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	3.27	0.06602	T	-0.23	0.10656	N	0.057	0.07811	-0.9739	0.36366	T	0.012	0.04747	T	9	0.0034273565	0.00060	T	.	.	.	0.038	0.09825	.	.	0.158396225186	0.15383	0.17245385209297553	0.17165	0.0583961131483	0.06474	0.27519595623	0.06831	T	0.004213	0.03621	T	-0.692941	0.00040	T	-0.766219	0.02894	T	0.00566671547338331	0.00062	T	0.758124	0.38180	T	0.0405561	0.05810	0.04987137	0.07710	0.0405561	0.05810	0.04987137	0.07710	-1.874	0.02739	T	.	.	0.065	0.03479	B	.;.;.;.;.	.;.;.;.;.	1.794752	0.22813	15.77	0.90784544201720663	0.20033	0.04976	0.10745	N	AEFGBI	0.043377	0.06850	N	-0.785594730364349	0.13685	0.6759337	-0.712317549567663	0.16655	0.8820444	0.984326989418703	0.30699	0.67177	0.52595	0	0.546412	0.12157	0	0.618467	0.43123	0	0.711	0.71501	0	.	.	5.82	3.29	0.36801	1.239000	0.32322	2.835000	0.35045	0.756000	0.94297	0.020000	0.19661	0.396000	0.24688	0.209000	0.22154	0.6216:0.0:0.3784:0.0	6.603	0.21907	954	0.10045	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	5629.11	33	chr5	73753050	.	A	G	5629.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.680e-01;DP=1079;ExcessHet=0.1072;FS=1.097;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.86;ReadPosRankSum=0.796;SOR=0.609	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1302	19	0	2	0
chr5	73870081	73870081	C	T	exonic	ARHGEF28	.	nonsynonymous SNV	ARHGEF28:NM_001244364:exon13:c.C1499T:p.S500F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.975	D	0.659	P	.	.	1.000	N	2.33	M	3.1	T	-1.042	T	0.060	T	0.343	3.126	16.45	5.09	0.865	2.278	14.364	0.155	0.00908756903042	.	.	8.29e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs769938527	2.054e-06	2.052e-06	1.362e-06	2.752e-06	5.039e-05	5.5e-07	1.5e-07	8.35e-06	3.12e-06	0	0	0	5.039e-05	0	0	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.59928	D	0.022	0.59732	D	0.794	0.56581	P	0.659	0.52771	P	.	.	.	.	0.771472	0.29432	N	1.15	0.29295	L	3.1	0.09822	T	-3.37	0.66780	D	0.174	0.24758	-1.0419	0.16741	T	0.060	0.25127	T	9	0.15202084	0.28722	T	0.009088	0.23917	T	0.155	0.40530	0.409	0.44395	0.256793551483	0.25290	0.43745099749524163	0.43662	0.0853455047791	0.09647	0.396597385406	0.24595	T	0.157341	0.49990	T	-0.37218	0.03485	T	-0.480238	0.24421	T	0.478536784648895	0.31844	T	0.939106	0.77081	D	0.23077469	0.45838	0.26226515	0.52016	0.23077469	0.45838	0.26226515	0.52015	-9.025	0.67858	D	.	.	0.210	0.43828	B	.;.;.;.;.;.	.;.;.;.;.;.	2.984992	0.39833	21.0	0.99586762978710897	0.73336	0.95795	0.66186	D	AEFBI	0.302023	0.41039	N	0.121938476345802	0.47487	2.974	0.139684431900981	0.46597	2.903211	0.999495871644561	0.40007	0.67177	0.52595	0	0.588015	0.36545	0	0.618467	0.43123	0	0.711	0.71501	0	.	.	5.95	5.09	0.68647	2.324000	0.43491	3.345000	0.37739	-0.171000	0.11205	0.956000	0.33378	0.998000	0.33993	0.993000	0.69303	0.1101:0.829:0.0:0.0609	14.364	0.66355	894	0.26265	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	53.01	43	chr5	73870081	.	C	T	53.01	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.131e+00;DP=809;ExcessHet=0.0000;FS=40.338;InbreedingCoeff=-0.0267;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.74;ReadPosRankSum=1.78;SOR=5.784	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1308	20	0	1	0
chr5	73873160	73873160	A	G	exonic	ARHGEF28	.	nonsynonymous SNV	ARHGEF28:NM_001244364:exon14:c.A1789G:p.S597G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.389	B	0.245	B	.	.	0.995	N	0.895	L	-0.04	T	-0.921	T	0.165	T	0.111	2.231	13.42	0.874	0.316	2.064	10.488	0.052	0.0189356235642	.	.	2.76e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs762222036	6.847e-06	6.84e-06	4.086e-06	9.637e-06	0.0001	3.46e-06	2.52e-06	6.273e-05	4.777e-05	0	0	0	0	0	0	0	0	0.0001	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.15	0.27080	T	0.104	0.40909	T	0.032	0.34565	B	0.086	0.37304	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	-0.04	0.63240	T	-1.56	0.37759	N	0.27	0.34444	-0.9207	0.45458	T	0.165	0.50209	T	9	0.11604729	0.21881	T	0.018936	0.41162	T	0.052	0.14661	0.513	0.61153	0.48087575253	0.47718	0.18932101446363486	0.18850	0.134404463148	0.15136	0.420417070389	0.27892	T	0.02109	0.16485	T	-0.313942	0.07406	T	-0.484182	0.24004	T	0.201908469200134	0.20521	T	0.845015	0.52334	T	0.072153665	0.16029	0.10927493	0.26334	0.072153665	0.16029	0.10927493	0.26333	-7.616	0.58422	D	.	.	0.070	0.09723	B	.;.;.;.;.;.	.;.;.;.;.;.	2.384841	0.30617	18.49	0.99304566265075289	0.58759	0.52848	0.29229	D	AEFBI	0.084400	0.17104	N	-0.400872918459813	0.25438	1.380929	-0.353635937358655	0.26397	1.457752	0.865427517229668	0.25309	0.706548	0.73137	0	0.588015	0.36545	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.24	0.874	0.18260	1.656000	0.36971	3.376000	0.37968	0.756000	0.94297	0.801000	0.29734	0.988000	0.31051	0.994000	0.71098	0.6054:0.0:0.0:0.3946	10.488	0.43922	888	0.27761	.;.;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;.;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1339.98	33	chr5	73873160	.	A	G	1339.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.142e+00;DP=784;ExcessHet=0.0000;FS=2.542;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.76;ReadPosRankSum=-1.220e-01;SOR=0.458	GT:AD:DP:GQ:PL	0/1:51,54:105:99:1354,0,1437	20	0	1	0
chr5	73901264	73901264	G	A	exonic	ARHGEF28	.	nonsynonymous SNV	ARHGEF28:NM_001244364:exon23:c.G3115A:p.V1039I	.	.	433	1084	4	1	0	6	0.00275989	.	.	252001	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.918	P	0.172	B	0.595	N	0.993	N	1.995	M	3.16	T	-1.060	T	0.047	T	0.05	2.545	14.47	3.7	1.310	2.226	10.119	0.070	0.00633159708661	0.0038	0.00119808	0.0032	0.0008	0.0010	0.0001	0.0022	0.0049	0.0024	0.0013	0.0032082	496	154602	rs188040167	0.0040	0.0040	0.0040	0.0040	0.0045	0.0039	0.0039	0.0044	0.0044	0.0007	0.0014	0.0056	0.0004	0.0025	0.0023	0.0045	0.0039	0.0019	0.0031	0.0031	0.0030	0.0033	0.0044	0.0029	0.0028	0.0039	0.0038	0.0009	0	0.0044	0.0052	0.0008	0.0030	0.0136	0.0044	0.0043	0.0023	0.189	0.21550	T	0.262	0.24913	T	0.227	0.50838	B	0.027	0.35394	B	0.595123	0.11012	N	0.676215	0.996042	0.23711	N	2.08	0.57402	M	3.16	0.31470	T	-0.15	0.09297	N	0.114	0.15609	-1.0596	0.11855	T	0.047	0.20156	T	10	0.0044407547	0.00091	T	0.006332	0.16639	T	0.070	0.20419	.	.	0.200317383148	0.19677	0.0576468309696133	0.05705	0.0627731416284	0.06987	0.287181049585	0.08513	T	0.009089	0.09278	T	-0.606514	0.00133	T	-0.642901	0.09460	T	0.00681652945253357	0.00077	T	0.658334	0.26756	T	0.05561786	0.10834	0.062134627	0.12107	0.05561786	0.10833	0.062134627	0.12107	-4.739	0.33872	T	.	.	0.095	0.19919	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.930635	0.38935	20.8	0.99577022287281558	0.72742	0.65386	0.32720	D	AEFDGBCIJ	0.098433	0.19836	N	0.044416719433256	0.43886	2.67289	0.120652306431048	0.45608	2.820831	0.999999953391344	0.74766	0.67177	0.52595	0	0.588066	0.40923	0	0.618467	0.43123	0	0.711	0.71501	0	.	.	5.52	3.7	0.41607	2.260000	0.42923	4.311000	0.42969	0.676000	0.76740	0.907000	0.31601	0.999000	0.35428	0.988000	0.63387	0.1633:0.0:0.8367:0.0	10.119	0.41783	819	0.41190	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	1244.98	39	chr5	73901264	.	G	A	1244.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.700e-01;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.39;ReadPosRankSum=0.151;SOR=0.616	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1047	20	0	1	0
chr5	74770719	74770719	A	G	exonic	NSA2	.	nonsynonymous SNV	NSA2:NM_001271665:exon4:c.A431G:p.K144R	.	.	440	1075	7	0	0	7	0.00324525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.503	P	0.34	B	0.000	D	1.000	D	3.375	M	1.68	T	-0.819	T	0.142	T	0.496	5.059	31	5.63	2.261	8.905	16.125	0.227	.	7.7e-05	0.0103834	0.0066	0.0002	0.0007	0	0	0	0.0022	0.0479	0.005692	880	154602	rs112629126	0.0028	0.0028	0.0015	0.0041	0.0446	0.0027	0.0027	0.0434	0.0430	8.968e-05	8.954e-05	0	2.521e-05	0	0.0012	1.619e-05	0.0030	0.0446	0.0017	0.0017	0.0007	0.0027	0.0503	0.0015	0.0015	0.0451	0.0431	0.0004	0	0	0	0	0	0	0	0	0.0503	0.097	0.30943	T	0.007	0.69154	D	0.503	0.37206	P	0.34	0.42389	B	0.000001	0.84330	D	0.127262	1	0.81001	D	2.535	0.73915	M	1.68	0.27184	T	-2.39	0.52612	N	0.691	0.69649	-0.8191	0.53990	T	0.142	0.46349	T	10	0.0069829226	0.00159	T	.	.	.	0.227	0.52620	.	.	0.377493895363	0.37364	0.3418175804496259	0.34094	0.0514255740683	0.05660	0.752924501896	0.74878	T	0.342673	0.71142	T	-0.389177	0.02723	T	-0.298222	0.44913	T	0.0660738710339191	0.08089	T	0.966703	0.87848	D	0.26409462	0.49475	0.30599636	0.56625	0.26409462	0.49475	0.30599636	0.56624	-6.81	0.52633	T	.	.	0.365	0.57511	A	.;.	.;.	4.398517	0.67945	25.2	0.99895373078427807	0.96819	0.99045	0.90421	D	AEFBI	0.965132	0.98739	D	0.610350713587985	0.73828	6.030422	0.65168110091614	0.78733	6.936584	0.999999999998074	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	8.890000	0.92121	9.326000	0.80089	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	16.125	0.81196	425	0.81160	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025	1556.33	34	chr5	74770719	.	A	G	1556.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.397;DP=778;ExcessHet=0.0000;FS=7.101;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=59.82;MQRankSum=0.00;QD=13.19;ReadPosRankSum=-3.900e-01;SOR=1.218	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1121	19	0	1	1
chr5	74805156	74805156	C	A	exonic	FAM169A	.	nonsynonymous SNV	FAM169A:NM_001376054:exon3:c.G253T:p.A85S	.	.	.	.	.	.	.	.	.	0.9992	0.988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	B	0.083	B	0.447	N	1.000	D	0	N	0.92	T	-1.137	T	0.065	T	0.086	2.787	15.28	4.58	1.294	3.543	12.624	0.070	0.0402850786544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.306	0.15149	T	0.735	0.05072	T	0.372	0.34134	B	0.058	0.29179	B	0.447156	0.04794	N	1.372810	1	0.81001	D	2.125	0.59049	M	0.92	0.44461	T	-0.03	0.11185	N	0.213	0.39659	-1.1367	0.01486	T	0.065	0.26983	T	9	0.14202264	0.26980	T	0.040285	0.59291	D	0.070	0.20419	0.322	0.30226	0.043077524339	0.03247	0.222073533302892	0.22122	0.318642696755	0.34082	0.311269760132	0.12099	T	0.017988	0.14581	T	-0.23144	0.16458	T	-0.570224	0.15428	T	0.417106017450766	0.29584	T	0.69713	0.31362	T	0.09669352	0.22779	0.068991326	0.14478	0.09669352	0.22779	0.068991326	0.14477	-2.464	0.05540	T	.	.	0.080	0.09094	B	.;.	.;.	3.948797	0.57831	23.9	0.98826810215610128	0.46886	0.97727	0.76697	D	AEFBI	0.438496	0.49786	N	-0.119074110486977	0.36563	2.11508	0.0467275573755347	0.41914	2.526169	0.999496956525386	0.40007	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.542086	0.14980	0	.	.	5.45	4.58	0.56077	4.021000	0.56907	5.973000	0.52033	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.9197:0.0:0.0803	12.624	0.55977	427	0.81056	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1429.98	33	chr5	74805156	.	C	A	1429.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.700e-02;DP=801;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=0.356;SOR=0.631	GT:AD:DP:GQ:PL	0/1:51,63:114:99:1444,0,1097	20	0	1	0
chr5	75091304	75091304	A	C	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon22:c.T5258G:p.L1753R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	0.536	D	2.045	M	0.62	T	-0.415	T	0.219	T	0.618	3.814	19.37	5.29	2.015	4.602	12.614	0.231	0.111300731309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.536115	0.32015	D	2.175	0.60977	M	0.62	0.53302	T	-2.16	0.48850	N	0.818	0.81360	-0.4146	0.71563	T	0.219	0.58201	T	7	0.32827377	0.50099	T	0.111301	0.78903	D	0.231	0.53208	0.592	0.72123	0.324436698001	0.32047	0.4334824194705021	0.43265	.	.	0.446837604046	0.31512	T	0.134526	0.46582	T	0.00921274	0.52917	T	-0.224543	0.52299	T	0.968923926353455	0.68410	D	0.765223	0.39255	T	0.68806475	0.77406	0.7303932	0.84070	0.68806475	0.77408	0.7303932	0.84071	-3.561	0.17296	T	.	.	0.768	0.75820	P	.;.	.;.	4.592418	0.72660	25.9	0.99692932394309353	0.80044	0.90900	0.52474	D	AEFBI	0.512492	0.54068	D	0.392221919617404	0.60999	4.295452	0.440081407134247	0.64082	4.655465	0.999986021535768	0.51787	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	4.818000	0.62347	11.108000	0.86264	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	12.614	0.55925	802	0.44336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	921.98	34	chr5	75091304	.	A	C	921.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=790;ExcessHet=0.0000;FS=0.776;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.81;ReadPosRankSum=0.375;SOR=0.551	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1100	20	0	1	0
chr5	75104749	75104749	A	C	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon21:c.T4639G:p.S1547A	.	.	428	1088	6	0	0	6	0.00274977	.	.	3278406	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.37	T	.	.	.	.	.	.	1.000	N	1.935	M	-0.01	T	-0.864	T	0.250	T	0.185	1.657	11.50	3.06	1.002	1.086	10.861	0.066	0.0450366899847	.	.	5.71e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs752446409	4.26e-05	4.036e-05	3.279e-05	5.268e-05	0.0011	3.355e-05	3.072e-05	0.0005	0.0003	3.165e-05	0	0	2.799e-05	0	0.0011	2.966e-05	8.634e-05	0.0002	1.314e-05	1.313e-05	1.285e-05	1.345e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.011	0.55530	D	0.534	0.09965	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.2	0.62015	M	-0.01	0.62762	T	-0.97	0.25770	N	0.231	0.28381	-0.8637	0.50995	T	0.250	0.62004	T	7	0.11529091	0.21717	T	0.045037	0.61784	D	0.066	0.19193	0.322	0.30226	0.139678290688	0.13603	0.023792133616050835	0.02330	.	.	0.265491098166	0.05562	T	0.084476	0.37286	T	-0.266625	0.12137	T	-0.424463	0.30564	T	0.097513245611346	0.12081	T	0.524848	0.17228	T	0.11139826	0.26325	0.14425655	0.34255	0.11139826	0.26325	0.14425655	0.34254	-4.536	0.31356	T	.	.	0.104	0.18787	B	.;.	.;.	2.256948	0.28836	17.93	0.98964991100239141	0.49403	0.84715	0.43802	D	AEFI	0.092442	0.18715	N	-0.171414790650751	0.34328	1.958076	-0.161403787034218	0.32971	1.88123	2.10907296784703E-4	0.05948	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.75	3.06	0.34374	1.091000	0.30526	1.156000	0.24517	-0.050000	0.17177	0.996000	0.39380	0.050000	0.21810	0.939000	0.47918	0.8517:0.0:0.1483:0.0	10.861	0.46036	803	0.44167	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2255.98	35	chr5	75104749	.	A	C	2255.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.58;DP=939;ExcessHet=0.0000;FS=12.951;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=1.12;SOR=1.037	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	20	0	1	0
chr5	75118147	75118147	C	T	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon17:c.G3856A:p.A1286T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	.	.	.	.	.	.	1.000	N	1.61	L	0.2	T	-0.940	T	0.156	T	0.235	0.796	8.189	1.24	0.112	0.067	2.682	0.030	0.0170466889119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.549	0.09522	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.79	0.46772	L	0.2	0.60111	T	-0.84	0.22944	N	0.2	0.22098	-0.9397	0.42664	T	0.156	0.48807	T	7	0.075415164	0.11654	T	0.017047	0.38587	T	0.030	0.07022	0.41	0.44559	0.16115917748	0.15686	0.059974397443567196	0.05937	.	.	0.255921125412	0.04417	T	0.001413	0.00874	T	-0.16856	0.25451	T	-0.479901	0.24457	T	0.102390711655354	0.12618	T	0.70163	0.31127	T	0.029978456	0.02583	0.05316264	0.08901	0.029978456	0.02582	0.05316264	0.08900	-2.696	0.07269	T	.	.	0.069	0.06756	B	.;.	.;.	0.698953	0.10679	7.373	0.95966972190481337	0.28317	0.01759	0.05532	N	AEFI	0.046822	0.07819	N	-0.47004577047244	0.23065	1.236072	-0.603180281463711	0.19411	1.041312	5.72977320847864E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.27	1.24	0.20416	0.071000	0.14461	0.026000	0.13662	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.871000	0.41478	0.1963:0.5195:0.1761:0.108	2.682	0.04781	806	0.43582	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	40.33	33	chr5	75118147	.	C	T	40.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-4.199e+00;DP=1237;ExcessHet=0.0000;FS=133.562;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=0.25;ReadPosRankSum=0.757;SOR=7.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485	19	0	1	1
chr5	75146001	75146001	A	G	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon14:c.T3410C:p.I1137T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	.	.	.	.	.	.	1.000	N	1.61	L	0.06	T	-0.973	T	0.133	T	0.568	0.412	6.238	-2.42	-0.580	-0.566	0.344	0.208	0.0320185438598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.067e-06	5.908e-05	3.014e-06	3.121e-06	3.869e-06	7.2e-07	4.8e-07	9.1e-07	6.1e-07	0	0	0	0	0	0	3.869e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.08	0.76473	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.705	0.44259	L	0.06	0.61798	T	0.5	0.02945	N	0.144	0.33904	-0.9725	0.36670	T	0.133	0.44622	T	7	0.07310486	0.11001	T	0.032019	0.53954	D	0.208	0.49714	0.399	0.42753	0.0666544352282	0.05500	0.1179940654002401	0.11726	.	.	0.431646108627	0.29434	T	6.79E-4	0.00299	T	-0.0895452	0.38151	T	-0.366402	0.37308	T	0.0622141301128149	0.07513	T	0.622038	0.23930	T	0.046649564	0.07844	0.065477386	0.13277	0.046649564	0.07844	0.065477386	0.13277	-3.908	0.22423	T	.	.	0.159	0.35204	B	.;.	.;.	-0.613964	0.01534	0.099	0.95776924258942753	0.27794	0.03341	0.08421	N	AEFI	0.072667	0.14510	N	-0.919827703521214	0.10379	0.4956785	-1.06350639893966	0.08427	0.4143377	9.32791732047118E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	-2.42	0.06164	-1.019000	0.03733	-0.266000	0.10387	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.627000	0.32078	0.406:0.1456:0.1685:0.28	0.344	0.00315	845	0.36510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2381	835.18	74	chr5	75146001	.	A	G	835.18	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-2.826e+00;DP=1745;ExcessHet=6.1002;FS=93.999;InbreedingCoeff=-0.2987;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=1.04;SOR=11.037	GT:AD:DP:GQ:PL	0/1:72,15:87:90:90,0,1579	11	0	10	0
chr5	75350276	75350276	G	A	exonic	HMGCR	.	nonsynonymous SNV	HMGCR:NM_000859:exon8:c.G682A:p.E228K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.807	P	0.131	B	0.000	D	1.000	D	0.35	N	0.88	T	-1.067	T	0.059	T	0.958	4.333	22.8	6.07	2.885	9.635	20.659	0.369	0.0127105202164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	6.575e-06	6.568e-06	1.285e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.301	0.16520	T	0.511	0.10785	T	0.662	0.40950	P	0.098	0.30479	B	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.14	0.04484	N	0.88	0.46412	T	-0.98	0.25986	N	0.93	0.93487	-1.0666	0.10177	T	0.059	0.24908	T	10	0.6349621	0.68729	D	0.012711	0.31519	T	0.369	0.68844	0.408	0.44230	0.866828520179	0.86553	0.6540730051561783	0.65343	1.02137000467	0.75134	0.826209306717	0.85982	D	0.387093	0.74809	T	0.214645	0.75270	D	0.0705464	0.74947	D	0.735455910282753	0.42494	D	0.968803	0.88706	D	0.28137243	0.51180	0.24423924	0.49886	0.28137243	0.51180	0.24423924	0.49884	-10.866	0.78917	D	.	.	0.354	0.56831	A	.;.;.	.;.;.	4.467810	0.69589	25.4	0.99857161267438432	0.93548	0.99728	0.99013	D	AEFBI	0.940799	0.94325	D	0.213631692132252	0.51861	3.364037	0.426638945498245	0.63231	4.552732	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.07	6.07	0.98675	9.799000	0.98235	11.720000	0.94800	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.659	0.99629	911	0.21964	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2273.98	33	chr5	75350276	.	G	A	2273.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.302;DP=854;ExcessHet=0.0000;FS=11.841;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.36;ReadPosRankSum=3.68;SOR=0.253	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1240	20	0	1	0
chr5	76461582	76461582	A	T	exonic	IQGAP2	.	nonsynonymous SNV	IQGAP2:NM_006633:exon2:c.A59T:p.D20V,	.	.	421	1100	1	0	0	1	0.000454339	.	.	3455232	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.564	P	0.168	B	0.000	D	1.000	D	0.55	N	4.26	T	-0.754	T	0.008	T	0.589	3.211	16.75	4.16	1.880	6.838	12.618	0.290	0.0771909289029	7.7e-05	.	6.6e-05	0.0002	0	0	0	9.004e-05	0	0	5.17e-05	8	154602	rs148247178	6.092e-05	6.156e-05	5.04e-05	7.154e-05	0.0007	5.031e-05	4.674e-05	0.0004	0.0003	0.0006	6.71e-05	0	0	0	0.0007	4.41e-05	0.0002	0	4.596e-05	4.593e-05	6.425e-05	2.686e-05	4.812e-05	2.108e-05	1.526e-05	7.97e-06	2.98e-06	4.812e-05	0	0	0	0	9.418e-05	0.0068	2.94e-05	0	0	0.002	0.72154	D	0.007	0.69154	D	0.564	0.38410	P	0.168	0.35187	B	0.000001	0.84330	D	0.000000	1	0.81001	D	2.005	0.54552	M	4.26	0.02538	T	-3.93	0.73267	D	0.633	0.64648	-0.7541	0.57721	T	0.008	0.02679	T	10	0.46589726	0.59568	T	0.077191	0.72712	D	0.290	0.60924	.	.	0.473774312618	0.47003	0.6165399681002249	0.61585	0.85127929624	0.68546	0.894383132458	0.95794	D	0.519524	0.83171	D	-0.18306	0.23281	T	-0.314825	0.43139	T	0.303968405174412	0.25167	T	0.949005	0.80370	D	0.52999604	0.68830	0.4396985	0.67314	0.52999604	0.68831	0.4396985	0.67314	-3.834	0.21313	T	.	.	0.573	0.67748	P	.	.	4.149065	0.62223	24.4	0.98817679895476573	0.46720	0.98702	0.85770	D	AEFBI	0.889894	0.82442	D	0.109836575911654	0.46920	2.925177	0.221260177962911	0.51029	3.289045	0.999997578209096	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.16	4.16	0.48138	7.189000	0.77281	10.926000	0.84261	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	1.0:0.0:0.0:0.0	12.618	0.55944	935	0.14827	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	934.98	34	chr5	76461582	.	A	T	934.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.850e-01;DP=755;ExcessHet=0.0000;FS=0.912;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=0.377;SOR=0.910	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	20	0	1	0
chr5	76875385	76875385	T	A	exonic	S100Z	.	nonsynonymous SNV	S100Z:NM_130772:exon3:c.T26A:p.M9K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.967	D	0.919	D	0.000	D	1.000	D	.	.	2.79	T	-1.102	T	0.083	T	0.962	4.879	28.0	5.69	2.164	4.757	15.611	0.536	0.0627910347853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.84e-07	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.967	0.56408	D	0.919	0.65474	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	.	.	.	2.79	0.11189	T	-5.58	0.86450	D	0.939	0.94668	-1.1019	0.03869	T	0.083	0.32614	T	9	0.9282266	0.92167	D	0.062791	0.68764	D	0.536	0.80545	0.759	0.88811	0.0138822411134	0.00435	0.8686250610848661	0.86827	0.501948534993	0.48567	0.477370023727	0.35695	T	0.150732	0.49035	T	0.208433	0.74682	D	0.0616236	0.74352	D	0.993864357471466	0.84849	D	0.821218	0.48050	T	0.98303944	0.99333	0.96526104	0.99244	0.98303944	0.99333	0.96526104	0.99244	-14.595	0.94830	D	.	.	0.167	0.37820	B	.;.;.	.;.;.	3.710842	0.52979	23.3	0.98545816141918563	0.42783	0.98510	0.83546	D	ALL	0.841734	0.75891	D	0.624611583867838	0.74736	6.183352	0.638274231593096	0.77740	6.737961	0.999999999999996	0.74766	0.645564	0.44392	1	0.0	0.00010	3	0.606884	0.38211	0	0.542086	0.14980	0	.	.	5.69	5.69	0.88346	4.774000	0.62033	3.443000	0.38394	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.916000	0.45140	0.0:0.0:0.0:1.0	15.611	0.76464	843	0.36859	S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain;S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain;S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1509.98	33	chr5	76875385	.	T	A	1509.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.334;DP=807;ExcessHet=0.0000;FS=1.485;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=0.082;SOR=0.552	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1317	20	0	1	0
chr5	78128116	78128116	T	C	exonic	AP3B1	.	nonsynonymous SNV	AP3B1:NM_001271769:exon17:c.A1735G:p.I579V	Hermansky-Pudlak syndrome 2, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	1976622	Hermansky-Pudlak_syndrome_2	MONDO:MONDO:0011997,MedGen:C1842362,OMIM:608233,Orphanet:183678,Orphanet:79430	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.48	T	0.004	B	0.012	B	0.351	N	1.000	N	1.245	L	0.56	T	-1.010	T	0.107	T	0.067	-1.350	0.029	0.574	-0.112	0.264	10.022	0.034	0.0104484326169	.	.	4.133e-05	0	0	0	0	7.512e-05	0	0	3.23e-05	5	154602	rs767098447	2.739e-05	2.736e-05	2.316e-05	3.165e-05	0.0002	2.064e-05	1.817e-05	2.287e-05	2.024e-05	0	4.475e-05	0	0	0	0.0002	3.15e-05	3.313e-05	0	6.574e-06	6.567e-06	0	1.346e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.825	0.02958	T	0.305	0.20745	T	0.004	0.12183	B	0.012	0.16012	B	0.350769	0.13819	N	0.733424	0.999639	0.20820	N	1.04	0.26193	L	0.56	0.54540	T	0.27	0.04613	N	0.114	0.12627	-1.0100	0.26917	T	0.107	0.38931	T	10	0.07240075	0.10801	T	0.010448	0.27001	T	0.034	0.08419	0.332	0.31843	0.182106788282	0.17826	0.122787087716229	0.12204	0.0386119874537	0.04107	0.27877920866	0.07323	T	0.210522	0.57104	T	-0.388182	0.02763	T	-0.615077	0.11577	T	0.0141211189329624	0.00276	T	0.711729	0.32279	T	0.02085421	0.00660	0.02289417	0.00307	0.02085421	0.00659	0.02289417	0.00307	-1.584	0.01945	T	.	.	0.062	0.02829	B	.;.	.;.	1.056537	0.14379	10.96	0.66228512688120711	0.07997	0.61273	0.31437	D	AEDGBHCI	0.120988	0.23543	N	-0.659860303378277	0.17174	0.881468	-0.521036399242187	0.21581	1.168207	0.198975897705448	0.18098	0.743674	0.98306	0	0.630245	0.54622	0	0.630245	0.45026	0	0.584449	0.35598	0	.	.	5.81	0.574	0.16553	0.266000	0.18300	0.187000	0.15699	-0.133000	0.13014	0.960000	0.33603	0.989000	0.31174	0.980000	0.58198	0.0:0.2544:0.0:0.7456	10.022	0.41218	893	0.26510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	781.98	33	chr5	78128116	.	T	C	781.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.312e+00;DP=759;ExcessHet=0.0000;FS=3.214;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.01;ReadPosRankSum=2.44;SOR=0.388	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1139	20	0	1	0
chr5	78985128	78985136	CCCCGGCGC	-	exonic	ARSB	.	nonframeshift deletion	ARSB:NM_000046:exon1:c.113_121del:p.G38_G40del	Mucopolysaccharidosis type VI (Maroteaux-Lamy), Autosomal recessive	.	3	1490	29	0	0	29	0.00963775	.	.	487184	not_specified|not_provided|Mucopolysaccharidosis_type_6	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009661,MedGen:C0026709,OMIM:253200,Orphanet:583	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0039	0	0.0003	0	0	0.0004	0.0071	0.0193	0.0012548	194	154602	rs550086186	0.0008	0.0008	0.0004	0.0011	0.0124	0.0007	0.0007	0.0117	0.0115	0	0	0	3.291e-05	0	0.0036	6.793e-05	0.0009	0.0124	0.0005	0.0005	0.0002	0.0008	0.0139	0.0004	0.0004	0.0112	0.0102	2.409e-05	0	6.547e-05	0	0	0	0	5.892e-05	0.0009	0.0139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1224.94	34	chr5	78985127	.	GCCCCGGCGC	G	1224.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.472;DP=774;ExcessHet=0.0000;FS=2.045;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.28;ReadPosRankSum=1.02;SOR=1.041	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1062	20	0	1	0
chr5	79044510	79044510	T	C	exonic	DMGDH	.	nonsynonymous SNV	DMGDH:NM_013391:exon6:c.A788G:p.H263R,	Dimethylglycine dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.94	P	0.749	P	0.000	D	1.000	D	-0.205	N	-1.44	T	-0.130	T	0.367	T	0.889	4.515	24.3	5.29	2.134	7.877	15.569	0.620	0.0499483824762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.228	0.25286	T	0.648	0.40583	P	0.172	0.35394	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.175	0.60977	M	-1.44	0.80815	T	-1.42	0.34992	N	0.804	0.79986	-0.1303	0.79394	T	0.367	0.72712	T	10	0.64481616	0.69264	D	0.049948	0.64031	D	0.620	0.85249	0.601	0.73226	0.827341243144	0.82571	0.8269855015519543	0.82656	0.611311684803	0.55774	0.558233141899	0.47018	T	0.028244	0.20504	T	0.334612	0.85475	D	0.24287	0.85283	D	0.968468606472015	0.68253	D	0.921908	0.71628	D	0.86606336	0.88552	0.6559207	0.79854	0.86606336	0.88554	0.6559207	0.79855	-8.651	0.65424	D	0.4151006917709649	0.50477	0.852	0.79850	P	.;.	.;.	3.747857	0.53700	23.4	0.99775390252736462	0.86260	0.99126	0.91608	D	AEFBI	0.956026	0.97429	D	0.228138784264105	0.52565	3.430038	0.367314525288217	0.59556	4.134629	0.999998532021457	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	7.857000	0.85305	7.860000	0.71395	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.569	0.76062	624	0.65661	FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	163.69	50	chr5	79044510	.	T	C	163.69	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.041e+00;DP=1356;ExcessHet=0.6776;FS=85.976;InbreedingCoeff=-0.1009;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.40;ReadPosRankSum=0.743;SOR=8.349	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,99,1485	17	0	4	0
chr5	79044511	79044511	G	C	exonic	DMGDH	.	nonsynonymous SNV	DMGDH:NM_013391:exon6:c.C787G:p.H263D,	Dimethylglycine dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.98	D	0.759	P	0.000	D	1.000	D	0.895	L	-1.46	T	0.018	D	0.491	T	0.933	4.798	27.1	5.29	2.641	9.658	19.355	0.698	0.0572291225831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.841e-07	1.361e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.132	0.34477	T	0.648	0.40583	P	0.172	0.35394	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.175	0.60977	M	-1.46	0.80983	T	-2.37	0.52289	N	0.869	0.86618	0.018	0.82617	D	0.491	0.80683	T	10	0.70717055	0.72812	D	0.057229	0.66892	D	0.698	0.89099	0.622	0.75690	0.868318187846	0.86703	0.9026088343444532	0.90232	0.676553549043	0.59772	0.552397727966	0.46196	T	0.063196	0.32114	T	0.364451	0.87590	D	0.285732	0.87431	D	0.988304376602173	0.78653	D	0.912409	0.68863	D	0.8928231	0.90750	0.8229594	0.89729	0.8928231	0.90752	0.8229594	0.89729	-8.003	0.61091	D	0.4876948001241698	0.56516	0.823	0.78383	P	.;.	.;.	4.294393	0.65523	24.8	0.99466512279193564	0.66102	0.99561	0.97457	D	AEFBI	0.953048	0.96901	D	0.463370793232331	0.64968	4.763473	0.561045492508772	0.72167	5.767662	0.999999999489839	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	9.792000	0.98216	11.788000	0.96293	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.355	0.94400	624	0.65661	FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	97.27	50	chr5	79044511	.	G	C	97.27	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.163e+00;DP=1163;ExcessHet=0.0000;FS=136.065;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.98;ReadPosRankSum=0.379;SOR=7.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,99,1485	20	0	1	0
chr5	79044513	79044513	T	C	exonic	DMGDH	.	nonsynonymous SNV	DMGDH:NM_013391:exon6:c.A785G:p.E262G,	Dimethylglycine dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.046	B	0.015	B	0.018	N	0.876	D	1.78	L	-1.95	D	-0.111	T	0.487	T	0.243	2.519	14.38	5.29	2.134	3.870	11.557	0.249	0.0407194796191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	0.37326	T	0.112	0.58089	T	0.006	0.13644	B	0.015	0.17295	B	0.018093	0.27565	N	0.413393	0.876159	0.35658	D	1.975	0.53506	M	-1.95	0.85003	D	-4.14	0.77308	D	0.198	0.21839	-0.1106	0.79853	T	0.487	0.80466	T	10	0.38317823	0.54346	T	0.040719	0.59531	D	0.249	0.55752	0.531	0.63855	0.780453205906	0.77843	0.47059044108981435	0.46978	0.280322745389	0.30512	0.34006434679	0.16447	T	0.205226	0.56422	T	-0.01942	0.48935	T	-0.265672	0.48257	T	0.925464451313019	0.58720	D	0.913909	0.69352	D	0.41467655	0.61735	0.39909327	0.64481	0.41467655	0.61736	0.39909327	0.64481	-8.185	0.62323	D	0.533196133106151	0.60378	0.112	0.34405	B	.;.	.;.	3.763344	0.54010	23.4	0.99697088183515725	0.80385	0.87655	0.47267	D	AEFBI	0.613043	0.60089	D	-0.145664601528285	0.35419	2.034196	-0.0444280272822651	0.37732	2.21327	0.47275466971767	0.20721	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	3.861000	0.55713	4.188000	0.42384	0.665000	0.62972	0.933000	0.32380	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.1493:0.8507	11.557	0.50009	624	0.65661	FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	58.98	50	chr5	79044513	.	T	C	58.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.863e+00;DP=1017;ExcessHet=0.0000;FS=50.913;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.61;ReadPosRankSum=0.963;SOR=5.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,99,1485	20	0	1	0
chr5	79237494	79237494	A	G	exonic	JMY	.	nonsynonymous SNV	JMY:NM_152405:exon1:c.A844G:p.I282V,	.	.	417	1103	1	1	0	3	0.00135808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.0	B	0.001	B	0.067	U	0.997	N	0.345	N	3.17	T	-0.959	T	0.012	T	0.043	0.493	6.674	-1.61	-0.223	1.604	11.441	0.039	0.00275930997374	.	.	0.0003	0	8.649e-05	0	0	0	0	0.0022	0.0002458	38	154602	rs754291512	0.0002	0.0002	0.0001	0.0003	0.0024	0.0002	0.0002	0.0021	0.0020	0	6.708e-05	0	0	0	0.0021	5.666e-05	0.0001	0.0024	7.23e-05	7.218e-05	7.718e-05	6.721e-05	0.0008	3.973e-05	3.128e-05	0.0003	0.0002	0	0	0.0001	0	0	0	0.0034	5.885e-05	0	0.0008	0.48	0.08237	T	0.562	0.09052	T	0.0	0.02946	B	0.001	0.04355	B	0.067443	0.21740	U	0.450315	0.996503	0.22994	N	-1.67	0.00374	N	3.17	0.07599	T	-0.13	0.08971	N	0.015	0.00181	-0.9585	0.39461	T	0.012	0.04653	T	10	0.005007446	0.00108	T	0.002759	0.05723	T	0.039	0.10176	.	.	0.0934897674506	0.08844	0.05369305680692181	0.05311	.	.	0.423015803099	0.28251	T	0.007548	0.06949	T	-0.704698	0.00034	T	-0.790884	0.02141	T	0.0115356967724535	0.00174	T	0.59464	0.22023	T	0.027022906	0.01836	0.039731573	0.04134	0.027022906	0.01835	0.039731573	0.04134	-3.2	0.12480	T	.	.	0.074	0.05103	B	.	.	1.745102	0.22204	15.52	0.6792211350105215	0.08500	0.39791	0.26292	N	ALL	0.106806	0.21299	N	-0.859432440105369	0.11819	0.572471	-0.747666158716667	0.15780	0.8316019	0.999999999996611	0.74766	0.65757	0.49021	0	0.484254	0.07192	0	0.52208	0.10781	0	0.604282	0.37693	0	.	.	5.12	-1.61	0.07951	1.611000	0.36490	2.083000	0.30505	-0.050000	0.17177	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.4764:0.0:0.5236:0.0	11.441	0.49345	787	0.46738	JMY/WHAMM, middle domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2072.98	34	chr5	79237494	.	A	G	2072.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=899;ExcessHet=0.0000;FS=1.234;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=0.520;SOR=0.849	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1276	20	0	1	0
chr5	79730000	79730000	C	T	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon2:c.C1235T:p.S412F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.006	B	0.007	B	0.571	N	1.000	N	0.55	N	1.09	T	-1.020	T	0.059	T	0.075	2.175	13.23	-1.31	0.048	-0.139	2.292	0.001	0.0161294178214	.	.	1.658e-05	0.0001	0	0	0	1.501e-05	0	0	1.29e-05	2	154602	rs772038558	1.095e-05	1.094e-05	9.53e-06	1.238e-05	1.259e-05	6.48e-06	5.24e-06	7.31e-06	5.72e-06	0	0	0	0	0	0	1.259e-05	3.313e-05	0	6.568e-06	6.566e-06	1.284e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.319	0.13610	T	0.076	0.42614	T	0.006	0.13644	B	0.007	0.12992	B	0.570987	0.05479	N	1.259860	1	0.08975	N	1.04	0.26193	L	1.09	0.39223	T	-1.73	0.41046	N	0.116	0.10483	-1.0204	0.23584	T	0.059	0.24797	T	10	0.04019621	0.02569	T	0.016129	0.37232	T	0.001	0.00016	0.175	0.08135	0.101711395817	0.09552	0.07967573510401661	0.07902	0.302362172283	0.32568	0.250593483448	0.03831	T	0.029756	0.21248	T	-0.371803	0.03504	T	-0.68898	0.06448	T	0.0358302531122786	0.02951	T	0.382662	0.09313	T	0.045922223	0.07598	0.060952608	0.11692	0.045922223	0.07597	0.060952608	0.11692	-3.577	0.17525	T	.	.	0.115	0.23148	B	.	.	0.600059	0.09684	6.456	0.96613463650192977	0.30452	0.00977	0.03727	N	AEFGBI	0.032804	0.03774	N	-1.18671129877187	0.05201	0.2365077	-1.19576137412164	0.05980	0.2865116	0.999373601674378	0.39355	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.92	-1.31	0.08749	0.325000	0.19374	-0.206000	0.10898	-0.332000	0.05765	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1207:0.3614:0.1189:0.399	2.292	0.03887	422	0.81333	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3470.98	107	chr5	79730000	.	C	T	3470.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=1618;ExcessHet=0.0000;FS=2.758;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.67;ReadPosRankSum=1.32;SOR=0.794	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1046	20	0	1	0
chr5	79737121	79737121	T	C	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon2:c.T8356C:p.F2786L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.307	B	0.06	B	0.477	N	1.000	N	0.895	L	1.34	T	-1.052	T	0.048	T	0.062	0.785	8.138	-1.25	-0.073	0.529	4.559	0.022	0.00429156060246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.027e-05	0.0012	1.322e-05	7.332e-06	6.329e-05	5.96e-06	4.66e-06	1.048e-05	4.22e-06	6.329e-05	0	0	0	0	0	1.076e-05	0	1.189e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.30515	T	0.535	0.09931	T	0.307	0.32716	B	0.06	0.26717	B	0.477143	0.12208	N	0.730444	1	0.08975	N	0.55	0.14455	N	1.34	0.34841	T	-0.47	0.15178	N	0.068	0.04072	-1.0516	0.13954	T	0.048	0.20553	T	10	0.045761734	0.03686	T	0.004292	0.10404	T	0.022	0.04323	0.101	0.01536	0.0611884634855	0.05136	0.02498130375506089	0.02449	0.0683822844331	0.07654	0.305985629559	0.11300	T	0.019747	0.15676	T	-0.330161	0.06099	T	-0.71203	0.05191	T	0.0498282739417066	0.05471	T	0.564244	0.19889	T	0.05796542	0.11602	0.06227273	0.12156	0.05796542	0.11601	0.06227273	0.12155	-3.668	0.18847	T	.	.	0.511	0.65065	A	.	.	0.546264	0.09146	5.931	0.91598307684938896	0.20881	0.01020	0.03837	N	AEFBI	0.024890	0.01614	N	-0.86627449370109	0.11652	0.56346	-0.947118491995255	0.10990	0.5571424	0.997221251754495	0.35393	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.75	-1.25	0.08920	0.156000	0.16200	0.233000	0.16214	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.174000	0.21107	0.0:0.3042:0.3133:0.3826	4.559	0.11546	419	0.81524	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.119	140.72	97	chr5	79737121	.	T	C	140.72	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-3.679e+00;DP=1715;ExcessHet=1.1607;FS=178.575;InbreedingCoeff=-0.1308;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.30;ReadPosRankSum=1.09;SOR=10.961	GT:AD:DP:GQ:PL	0/0:69,0:69:92:0,92,1756	16	0	5	0
chr5	79743891	79743891	G	T	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon3:c.G10703T:p.S3568I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.946	D	0.002	N	0.990	D	2.505	M	1.67	T	-0.632	T	0.207	T	0.901	3.967	20.3	4.69	2.611	2.206	17.547	0.269	0.132518961488	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1440941566	7.173e-06	1.026e-05	1.416e-06	1.308e-05	0.0002	3.63e-06	2.65e-06	9.46e-06	3.54e-06	0	5.712e-05	0	0	0	0.0002	4.649e-06	1.727e-05	1.291e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.001	0.78490	D	0.004	0.74150	D	0.999	0.77913	D	0.946	0.68276	D	0.001819	0.37945	N	0.121467	0.990344	0.41139	D	1.83	0.48079	L	1.67	0.27331	T	-4.48	0.77965	D	0.771	0.76853	-0.6321	0.63481	T	0.207	0.56635	T	10	0.78530085	0.78195	D	0.132519	0.81485	D	0.269	0.58381	0.404	0.43573	0.51058355623	0.50700	0.43347762715050886	0.43264	0.373452143324	0.38813	0.628344118595	0.56909	T	0.129052	0.45709	T	0.18974	0.72939	D	0.0347714	0.72587	D	0.958758771419525	0.65354	D	0.816218	0.47186	T	0.6771739	0.76817	0.6206137	0.77900	0.6771739	0.76819	0.6206137	0.77901	-5.759	0.44215	T	.	.	0.514	0.65212	A	.	.	4.433120	0.68763	25.3	0.99682450263347777	0.79373	0.90594	0.51900	D	AEFGBI	0.422712	0.48860	N	0.7042728394372	0.79912	7.179217	0.664975246563155	0.79731	7.144557	0.365118163619851	0.19815	0.516011	0.20929	0	0.610034	0.51514	0	0.527494	0.11647	0	0.564101	0.26826	0	.	.	5.58	4.69	0.58546	2.575000	0.45689	6.171000	0.54489	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1539:0.8461:0.0	17.547	0.87762	419	0.81524	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1222.98	34	chr5	79743891	.	G	T	1222.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.909e+00;DP=805;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=-1.528e+00;SOR=0.686	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1143	20	0	1	0
chr5	79758776	79758776	C	T	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon7:c.C11134T:p.P3712S,	.	.	437	1055	28	2	0	32	0.0149393	.	.	413681	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.015	M	0.6	T	-0.431	T	0.276	T	0.769	4.740	26.5	5.59	2.631	5.487	19.207	0.301	0.0742929937315	0.0019	0.00139776	0.0029	0.0007	0.0042	0	0.0002	0.0036	0.0056	0.0027	0.002749	425	154602	rs61744879	0.0022	0.0022	0.0020	0.0023	0.0331	0.0021	0.0021	0.0292	0.0277	0.0017	0.0039	0.0106	2.555e-05	0.0001	0.0331	0.0018	0.0040	0.0025	0.0020	0.0020	0.0021	0.0019	0.0029	0.0018	0.0018	0.0022	0.0020	0.0007	0	0.0029	0.0124	0	9.452e-05	0.0340	0.0023	0.0076	0.0010	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000156	0.49130	D	0.000000	1	0.81001	D	2.785	0.81254	M	0.6	0.53731	T	-5.62	0.86758	D	0.689	0.69474	-0.4306	0.71047	T	0.276	0.64814	T	10	0.0079553425	0.00181	T	0.074293	0.72005	D	0.301	0.62179	.	.	0.622420230759	0.61935	0.46018590125347536	0.45936	0.359342250833	0.37625	0.586560249329	0.51009	T	0.091318	0.38770	T	-0.188122	0.22534	T	-0.0356092	0.67996	D	0.0367943118285224	0.03119	T	0.858514	0.54939	D	0.7099612	0.78605	0.73149425	0.84133	0.7099612	0.78606	0.73149425	0.84134	-7.529	0.57815	D	.	.	0.200	0.42346	B	.	.	3.499703	0.48958	22.7	0.99864377371403934	0.94276	0.98098	0.79581	D	AEFBI	0.696231	0.65464	D	0.765666027885568	0.83920	8.145722	0.754136889735947	0.86466	8.898101	0.999999996582122	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.59	5.59	0.84677	5.683000	0.67852	4.799000	0.44955	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.207	0.93720	419	0.81524	Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1249.98	102	chr5	79758776	.	C	T	1249.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.018e+00;DP=792;ExcessHet=0.0000;FS=0.751;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.25;ReadPosRankSum=-5.140e-01;SOR=0.576	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1186	20	0	1	0
chr5	79791029	79791029	G	C	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon11:c.G11749C:p.G3917R,	.	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.982	D	.	.	0.712	D	-0.025	N	2.54	T	-0.931	T	0.047	T	0.331	2.002	12.65	5.18	1.566	5.608	15.268	0.228	0.0144334920719	0.0006	0.000599042	0.0007	0	0.0004	0	0	0.0003	0.0035	0.0032	0.0005369	83	154602	rs200251867	0.0004	0.0004	0.0003	0.0005	0.0033	0.0004	0.0004	0.0030	0.0029	8.961e-05	2.237e-05	0	0	1.873e-05	0.0012	0.0003	0.0006	0.0033	0.0003	0.0003	0.0003	0.0003	0.0027	0.0002	0.0002	0.0016	0.0013	9.624e-05	0	0.0002	0	0	0	0	0.0004	0.0009	0.0027	0.053	0.38863	T	0.007	0.69154	D	1.0	0.90584	D	0.982	0.75477	D	.	.	.	.	0.712277	0.33531	D	0.45	0.12780	N	2.54	0.13916	T	-4.25	0.76094	D	0.777	0.77413	-0.9310	0.43992	T	0.047	0.20235	T	9	0.06256446	0.08018	T	0.014433	0.34542	T	0.228	0.52768	0.429	0.47680	0.490282680104	0.48660	0.43527896108451636	0.43444	0.0677024119643	0.07574	0.652367353439	0.60322	T	0.045767	0.27224	T	-0.48586	0.00685	T	-0.472471	0.25251	T	0.0931471727865737	0.11586	T	0.824218	0.48580	T	0.2376065	0.46627	0.2638827	0.52200	0.2376065	0.46627	0.2638827	0.52199	-6.313	0.48824	T	.	.	0.441	0.61750	A	.	.	4.015372	0.59269	24.1	0.98584967116556244	0.43297	0.98004	0.78799	D	AEFBI	0.635162	0.61477	D	0.379240412339841	0.60297	4.217277	0.4077176253207	0.62044	4.413534	0.0688708157179204	0.15472	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	6.05	5.18	0.71140	5.101000	0.64402	9.795000	0.81665	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.520000	0.29475	0.067:0.0:0.933:0.0	15.268	0.73371	480	0.77422	B30.2/SPRY domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1678.98	33	chr5	79791029	.	G	C	1678.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.633e+00;DP=819;ExcessHet=0.0000;FS=5.015;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.40;ReadPosRankSum=0.921;SOR=0.343	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1092	20	0	1	0
chr5	80058720	80058720	G	A	exonic	THBS4	.	nonsynonymous SNV	THBS4:NM_001306214:exon5:c.G389A:p.R130Q	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.873	P	0.239	B	0.000	D	0.997	D	1.39	L	1.54	T	-1.109	T	0.067	T	0.348	3.893	19.79	5.75	2.712	5.437	18.936	0.095	0.0112504933242	.	0.000199681	3.296e-05	0	0	0.0003	0	0	0	6.058e-05	3.23e-05	5	154602	rs553602331	3.01e-05	3.01e-05	2.859e-05	3.163e-05	0.0007	2.282e-05	2.032e-05	0.0002	0.0001	0	2.236e-05	0	0.0001	0	0.0007	1.889e-05	8.279e-05	0.0001	1.97e-05	1.969e-05	2.57e-05	1.343e-05	0.0004	5.24e-06	2.45e-06	6.85e-05	2.865e-05	0	0	0	0	0.0004	0	0	0	0.0005	0	0.213	0.19430	T	0.301	0.20293	T	0.873	0.47975	P	0.239	0.38566	B	0.000009	0.62929	D	0.108147	0.994217	0.43243	D	1.61	0.41143	L	1.54	0.30133	T	-0.7	0.19933	N	0.465	0.51851	-1.1089	0.03166	T	0.067	0.27399	T	10	0.184528	0.33830	T	0.01125	0.28682	T	0.095	0.27398	0.439	0.49321	0.512424132817	0.50885	0.28823929144392135	0.28736	0.702899583862	0.61236	0.344067811966	0.17044	T	0.045674	0.27194	T	-0.327429	0.06309	T	-0.415957	0.31539	T	0.238932907324009	0.22370	T	0.907309	0.67223	D	0.11051659	0.26122	0.122108504	0.29457	0.11051659	0.26122	0.122108504	0.29456	-2.939	0.09538	T	.	.	0.078	0.08417	B	.;.	.;.	4.662631	0.74439	26.2	0.99874892197344467	0.95244	0.91066	0.52793	D	AEFDBI	0.490048	0.52770	N	0.360993799578604	0.59322	4.110707	0.468389314571669	0.65905	4.88337	0.999999765341789	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.75	5.75	0.90390	5.867000	0.69350	9.801000	0.81695	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	18.936	0.92560	629	0.65079	Thrombospondin/cartilage oligomeric matrix protein, coiled-coil domain;Thrombospondin/cartilage oligomeric matrix protein, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1071.98	36	chr5	80058720	.	G	A	1071.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.070e-01;DP=813;ExcessHet=0.0000;FS=1.482;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.32;ReadPosRankSum=1.13;SOR=0.559	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1121	20	0	1	0
chr5	80082449	80082449	G	A	exonic	THBS4	.	nonsynonymous SNV	THBS4:NM_001306214:exon21:c.G2455A:p.V819I	.	.	.	.	.	.	.	.	.	.	.	749621	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.39	T	0.011	B	0.007	B	0.000	D	1.000	D	2.08	M	-3.62	D	0.344	D	0.756	D	0.125	2.657	14.84	3.97	1.407	4.606	13.289	0.371	0.063041462887	.	0.000998403	0.0006	0	0	0	0	0	0	0.0042	0.0004981	77	154602	rs372332310	0.0002	0.0002	0.0001	0.0003	0.0038	0.0002	0.0002	0.0035	0.0033	2.987e-05	8.944e-05	0	0	0	0	1.799e-06	0.0002	0.0038	9.85e-05	9.843e-05	6.425e-05	0.0001	0.0029	6.003e-05	4.877e-05	0.0018	0.0014	0	0	6.538e-05	0	0	0	0	0	0	0.0029	0.308	0.14111	T	0.472	0.15305	T	0.011	0.15914	B	0.007	0.12992	B	0.000002	0.62929	D	0.057910	0.999652	0.48079	D	2.2	0.62015	M	-3.62	0.95077	D	-0.71	0.20145	N	0.377	0.41853	0.344	0.88252	D	0.756	0.91689	D	10	0.013509303	0.00286	T	0.063041	0.68844	D	0.371	0.69016	0.633	0.76921	0.915201809402	0.91434	0.32415771602215515	0.32328	0.210598802773	0.23551	0.694151937962	0.66302	T	0.559878	0.85248	D	-0.292021	0.09434	T	-0.192526	0.55353	T	0.0255553715806038	0.01346	T	0.836416	0.50788	T	0.084645785	0.19601	0.078859806	0.17700	0.084645785	0.19601	0.078859806	0.17700	-6.541	0.50602	T	.	.	0.076	0.05935	B	.;.	.;.	4.465529	0.69536	25.4	0.9832566658205012	0.40290	0.85442	0.44575	D	AEFBCI	0.304904	0.41247	N	-0.0877781906011899	0.37927	2.213777	0.0293236084003497	0.41083	2.462308	0.999998114990736	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.84	3.97	0.45241	4.084000	0.57372	9.875000	0.82156	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0759:0.0:0.9241:0.0	13.289	0.59695	629	0.65079	Thrombospondin, C-terminal|Thrombospondin, C-terminal;Thrombospondin, C-terminal|Thrombospondin, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	879.98	35	chr5	80082449	.	G	A	879.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=792;ExcessHet=0.0000;FS=0.803;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.89;ReadPosRankSum=0.250;SOR=0.809	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1157	20	0	1	0
chr5	80158899	80158899	C	G	exonic	SERINC5	.	nonsynonymous SNV	SERINC5:NM_001174071:exon8:c.G923C:p.R308T	.	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.013	B	0.005	B	0.001	D	0.997	N	-0.09	N	2.59	T	-0.944	T	0.014	T	0.221	-0.356	2.318	2.95	0.795	0.324	7.777	0.016	0.00471219559533	.	.	2.485e-05	0	0	0	0	1.499e-05	0	0.0001	1.94e-05	3	154602	rs751889867	2.395e-05	2.394e-05	1.089e-05	3.714e-05	0.0003	1.739e-05	1.539e-05	0.0002	0.0001	0	0	0	0	0	0.0002	8.996e-06	3.314e-05	0.0003	6.568e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.621	0.05293	T	0.633	0.08419	T	0.001	0.07471	B	0.002	0.06944	B	0.000946	0.40932	D	0.304517	0.99664	0.22952	N	0.11	0.08516	N	2.59	0.13317	T	0.7	0.02163	N	0.362	0.45237	-0.9439	0.41992	T	0.014	0.05657	T	10	0.06340161	0.08253	T	0.004712	0.11722	T	0.016	0.02506	.	.	0.132336055621	0.12781	0.4776577084343152	0.47685	.	.	0.317820012569	0.13091	T	.	.	.	-0.468125	0.00873	T	-0.614013	0.11661	T	0.041159063577652	0.03901	T	0.806219	0.45479	T	.	.	.	.	.	.	.	.	-4.998	0.36819	T	.	.	0.125	0.27100	B	.;.	.;.	1.373139	0.17837	13.40	0.34569254475273048	0.02122	0.54911	0.29732	D	AEFGBI	0.087951	0.17832	N	-0.711448114108186	0.15700	0.793482	-0.487321586466185	0.22501	1.222504	0.9706915911202	0.29227	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.668105	0.65232	0	.	.	5.88	2.95	0.33285	0.622000	0.24127	0.550000	0.19412	-0.266000	0.06809	0.997000	0.40164	0.877000	0.27660	0.985000	0.61073	0.0:0.4901:0.368:0.1419	7.777	0.28205	670	0.60992	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1179.98	34	chr5	80158899	.	C	G	1179.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.69;DP=839;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.43;ReadPosRankSum=-2.600e-02;SOR=0.650	GT:AD:DP:GQ:PL	0/1:88,52:140:99:1194,0,1997	20	0	1	0
chr5	80437332	80437332	C	T	exonic	ZFYVE16	.	nonsynonymous SNV	ZFYVE16:NM_001284237:exon3:c.C647T:p.S216L	.	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	T	0.021	B	0.011	B	0.220	N	0.998	N	0.345	N	1.14	T	-0.993	T	0.040	T	0.063	-0.927	0.385	-0.48	0.026	-0.090	10.014	0.030	0.00600571349863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.578	0.06030	T	0.372	0.16376	T	0.002	0.09854	B	0.004	0.10090	B	0.219894	0.16163	N	0.518702	0.99782	0.22489	N	0.55	0.14455	N	1.14	0.38397	T	-0.89	0.24026	N	0.093	0.11769	-0.9933	0.31749	T	0.040	0.17106	T	10	0.044118315	0.03334	T	0.006006	0.15668	T	0.030	0.07022	0.275	0.22687	0.352262096564	0.34836	0.12811700135283888	0.12736	0.0426833663064	0.04603	0.292248100042	0.09250	T	0.004795	0.04206	T	-0.319811	0.06912	T	-0.697163	0.05982	T	0.0301871709525585	0.02018	T	0.746025	0.36642	T	0.043378968	0.06748	0.04774323	0.06944	0.043378968	0.06748	0.04774323	0.06944	-3.981	0.23518	T	.	.	0.073	0.04806	B	.;.;.	.;.;.	1.839313	0.23369	15.99	0.36170304872751802	0.02312	0.22143	0.21646	N	AEFBI	0.041230	0.06241	N	-0.902758784211391	0.10778	0.5167009	-0.794847114495535	0.14622	0.7649157	0.0438572772105586	0.14588	0.562547	0.31514	0	0.601575	0.49859	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	5.24	-0.48	0.11483	-0.065000	0.11575	0.787000	0.21533	0.549000	0.26987	0.336000	0.25640	0.997000	0.33255	0.971000	0.54645	0.0:0.5682:0.0:0.4318	10.014	0.41175	872	0.31118	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1699.98	85	chr5	80437332	.	C	T	1699.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.252e+00;DP=1790;ExcessHet=0.0000;FS=0.723;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.45;ReadPosRankSum=-1.300e-01;SOR=0.605	GT:AD:DP:GQ:PL	0/0:84,0:84:99:0,120,1800	20	0	1	0
chr5	80472791	80472791	C	T	exonic	ZFYVE16	.	nonsynonymous SNV	ZFYVE16:NM_014733:exon15:c.C4055T:p.T1352I	.	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.998	D	0.991	D	0.000	D	1.000	D	2.215	M	1.06	T	-0.715	T	0.239	T	0.746	4.307	22.6	5.75	2.713	4.222	12.840	0.149	0.0164185717769	0.0012	0.000199681	0.0010	9.701e-05	0.0003	0	0.0002	0.0012	0	0.0020	0.0009185	142	154602	rs139589180	0.0013	0.0013	0.0013	0.0013	0.0024	0.0013	0.0012	0.0016	0.0016	0.0002	0.0004	0.0003	2.521e-05	0.0002	0.0024	0.0015	0.0010	0.0019	0.0009	0.0009	0.0010	0.0009	0.0021	0.0008	0.0008	0.0014	0.0013	0.0002	0	0.0004	0.0006	0	9.448e-05	0	0.0017	0	0.0021	0.003	0.68238	D	0.009	0.66756	D	0.998	0.73220	D	0.991	0.79672	D	0.000016	0.62929	D	0.000000	0.999941	0.51968	D	2.36	0.67893	M	1.06	0.39781	T	-4.62	0.79143	D	0.652	0.66529	-0.7153	0.59693	T	0.239	0.60619	T	10	0.07799056	0.12376	T	0.016419	0.37668	T	0.149	0.39377	.	.	0.6731056941	0.67033	0.2601374024243025	0.25927	0.315198871704	0.33804	0.69129383564	0.65893	T	0.075883	0.35284	T	-0.234153	0.16103	T	-0.116385	0.62097	T	0.0685115169144581	0.08441	T	0.807119	0.45664	T	0.428355	0.62644	0.4644429	0.68915	0.46893632	0.65225	0.50877655	0.71612	-7.258	0.55896	T	0.5217319899014011	0.59390	0.311	0.53808	B	.;.;.	.;.;.	3.760746	0.53956	23.4	0.99915452630140833	0.98379	0.93872	0.59435	D	AEFGBI	0.523630	0.54715	D	0.738458331483141	0.82151	7.692473	0.731371629875474	0.84758	8.382818	0.984980212785301	0.30807	0.732398	0.92422	0	0.708844	0.79440	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.75	5.75	0.90390	3.321000	0.51710	5.877000	0.50600	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.0:0.9249:0.0:0.0751	12.840	0.57179	894	0.26265	Domain of unknown function DUF3480;Domain of unknown function DUF3480;Domain of unknown function DUF3480	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1175.98	36	chr5	80472791	.	C	T	1175.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=815;ExcessHet=0.0000;FS=1.496;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.32;ReadPosRankSum=1.04;SOR=0.864	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1509	20	0	1	0
chr5	80558606	80558606	G	A	exonic	ANKRD34B	.	nonsynonymous SNV	ANKRD34B:NM_001004441:exon5:c.C1414T:p.L472F,	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.994	D	0.841	P	0.025	N	0.866	D	1.79	L	2.13	T	-1.030	T	0.102	T	0.53	3.388	17.43	6.04	2.873	2.911	14.858	0.112	0.00635229840467	.	.	8.252e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs774283355	4.036e-05	4.036e-05	3.676e-05	4.401e-05	0.0081	3.179e-05	2.911e-05	0.0063	0.0056	2.987e-05	0	0	0	0	0.0081	1.799e-06	0.0001	0	3.283e-05	3.281e-05	1.285e-05	5.372e-05	1.471e-05	1.26e-05	7.98e-06	.	.	0	0	0	0	0	0	0.0136	1.471e-05	0	0	0.266	0.16251	T	0.22	0.25907	T	0.994	0.66517	D	0.841	0.60228	P	0.024531	0.26246	N	0.238040	0.86571	0.35469	D	2.34	0.67151	M	2.13	0.19588	T	-1.04	0.27259	N	0.133	0.12913	-1.0301	0.20422	T	0.102	0.37669	T	10	0.2021918	0.36329	T	0.006352	0.16696	T	0.112	0.31546	0.367	0.37524	0.475192790171	0.47147	0.20271925325298687	0.20188	0.371636946446	0.38662	0.328638643026	0.14728	T	0.014317	0.12210	T	-0.104284	0.35714	T	-0.387573	0.34836	T	0.35474494099617	0.27203	T	0.630337	0.24523	T	0.11427177	0.26979	0.09539421	0.22623	0.11427177	0.26979	0.09539421	0.22622	-4.258	0.27584	T	.	.	0.085	0.10014	B	.	.	3.539151	0.49694	22.8	0.99850186767523719	0.92925	0.91693	0.54063	D	AEFGBI	0.638291	0.61676	D	0.623464684704167	0.74662	6.170767	0.652748349041211	0.78815	6.952933	0.520367314474093	0.21091	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	6.04	6.04	0.98025	2.984000	0.49043	8.612000	0.77773	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.8558:0.1442	14.858	0.69990	677	0.60274	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1340.98	35	chr5	80558606	.	G	A	1340.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.275;DP=823;ExcessHet=0.0000;FS=1.352;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.51;ReadPosRankSum=-2.086e+00;SOR=0.570	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1230	20	0	1	0
chr5	80559007	80559007	A	G	exonic	ANKRD34B	.	nonsynonymous SNV	ANKRD34B:NM_001004441:exon5:c.T1013C:p.V338A,	.	.	436	1061	25	0	0	25	0.0116442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.0	B	0.001	B	0.811	N	1.000	N	-0.205	N	2.39	T	-0.955	T	0.013	T	0.099	0.714	7.802	2.32	0.152	1.814	6.188	0.022	.	0.0028	0.00439297	0.0042	0.0010	0.0022	0	0.0003	0.0029	0.0044	0.0164	0.0039003	603	154602	rs148564433	0.0038	0.0038	0.0033	0.0042	0.0156	0.0037	0.0037	0.0149	0.0147	0.0005	0.0021	0.0001	7.557e-05	0.0006	0.0088	0.0034	0.0026	0.0156	0.0027	0.0027	0.0026	0.0028	0.0137	0.0025	0.0024	0.0110	0.0101	0.0010	0	0.0039	0	0	0.0002	0	0.0034	0.0038	0.0137	0.38	0.11191	T	0.469	0.12281	T	0.0	0.02946	B	0.001	0.04355	B	0.810656	0.06825	N	1.135360	1	0.08975	N	-0.345	0.03330	N	2.39	0.15724	T	-0.17	0.09627	N	0.021	0.00339	-0.9551	0.40078	T	0.013	0.05129	T	10	0.0030637383	0.00051	T	.	.	.	0.022	0.04323	.	.	0.0666544352282	0.05500	0.36264810162296324	0.36178	0.129338878314	0.14584	0.250252187252	0.03794	T	0.00534	0.04790	T	-0.674948	0.00051	T	-0.728667	0.04388	T	0.00538134100217449	0.00058	T	0.29847	0.05558	T	0.05018048	0.09025	0.044652242	0.05834	0.05018048	0.09025	0.044652242	0.05834	-3.707	0.19422	T	.	.	0.097	0.15921	B	.	.	0.980013	0.13573	10.10	0.88781875991788861	0.18251	0.78876	0.38984	D	AEFBI	0.148571	0.27249	N	-0.792774858898037	0.13498	0.6653429	-0.637421739839242	0.18534	0.9905531	0.00174956441571191	0.08839	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	6.17	2.32	0.27895	1.824000	0.38710	2.686000	0.34052	0.756000	0.94297	0.311000	0.25423	0.940000	0.28757	0.905000	0.44082	0.7149:0.1345:0.1506:0.0	6.188	0.19722	677	0.60274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1220.98	35	chr5	80559007	.	A	G	1220.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.020e-01;DP=801;ExcessHet=0.0000;FS=2.707;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.13;ReadPosRankSum=-4.460e-01;SOR=0.931	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1230	20	0	1	0
chr5	80654889	80654898	TGCAGCGGCC	0	exonic	MSH3	.	.	.	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	2303.18	64	chr5	80654889	.	TGCAGCGGCC	T,*,CGCAGCGGCC	2303.18	.	AC=1,15,1;AF=0.024,0.357,0.024;AN=42;BaseQRankSum=0.767;DP=1593;ExcessHet=2.4516;FS=3.537;InbreedingCoeff=-0.0871;MLEAC=1,15,1;MLEAF=0.024,0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=2.07;ReadPosRankSum=0.503;SOR=0.970	GT:AD:DP:GQ:PL	0/0:42,0,0,0:42:99:0,102,1361,102,1361,1361,102,1361,1361,1361	7	0	1	0
chr5	81042984	81042984	-	TA	splicing	RASGRF2	NM_006909:exon2:c.395+1->TA	.	.	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.092e-05	0	0	0	0	1.932e-05	0	0	6.5e-06	1	154602	rs762918682	8.962e-06	8.893e-06	8.228e-06	9.704e-06	0.0005	5e-06	3.85e-06	0.0001	7.588e-05	3.007e-05	2.266e-05	0	0	0	0.0005	4.527e-06	3.336e-05	1.185e-05	6.571e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	5041.94	41	chr5	81042984	.	G	GTA	5041.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.468e+00;DP=950;ExcessHet=0.0000;FS=2.196;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.75;ReadPosRankSum=0.975;SOR=0.870	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1213	20	0	1	0
chr5	81330515	81330515	C	G	exonic	ACOT12	.	nonsynonymous SNV	ACOT12:NM_130767:exon15:c.G1547C:p.S516T,	.	.	428	1078	16	0	0	16	0.00736648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.136	B	0.129	B	0.000	D	1.000	D	2.14	M	2.48	T	-1.143	T	0.038	T	0.119	2.397	13.97	5.58	2.797	3.438	15.434	0.102	.	0.0041	0.00379393	0.0022	0.0110	0.0018	0	0	0.0016	0.0044	0.0010	0.0020763	321	154602	rs148630854	0.0012	0.0012	0.0012	0.0012	0.0114	0.0012	0.0011	0.0104	0.0101	0.0114	0.0019	0.0145	0	1.872e-05	0.0080	0.0006	0.0030	0.0009	0.0043	0.0043	0.0044	0.0042	0.0113	0.0040	0.0039	0.0105	0.0101	0.0113	0	0.0039	0.0130	0	0	0	0.0008	0.0090	0.0021	0.024	0.47745	D	0.043	0.49942	D	0.136	0.27347	B	0.129	0.32841	B	0.000018	0.62929	D	0.148152	0.648529	0.32942	D	2.675	0.78361	M	2.48	0.14657	T	-1.31	0.32791	N	0.213	0.23758	-1.1433	0.01240	T	0.038	0.16419	T	10	0.00680092	0.00154	T	.	.	.	0.102	0.29158	.	.	0.33085137897	0.32697	0.43767070057906926	0.43684	0.247984735004	0.27358	0.432376146317	0.29534	T	0.085926	0.37610	T	-0.596935	0.00152	T	-0.619844	0.11197	T	0.0378172540737556	0.03299	T	0.552145	0.19060	T	0.08670919	0.20165	0.13169524	0.31617	0.08670919	0.20165	0.13169524	0.31616	-5.293	0.39874	T	.	.	0.097	0.15832	B	.	.	3.284550	0.45021	22.0	0.9780024171918299	0.36058	0.88285	0.48144	D	AEFI	0.710842	0.66447	D	0.144560799799679	0.48554	3.066328	0.253707566329056	0.52860	3.45814	0.996932734919856	0.35130	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.58	5.58	0.84361	2.651000	0.46338	4.029000	0.41321	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.184000	0.21420	0.0:1.0:0.0:0.0	15.434	0.74858	689	0.59000	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1246.98	33	chr5	81330515	.	C	G	1246.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.86;ReadPosRankSum=0.751;SOR=0.746	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1241	20	0	1	0
chr5	83520371	83520371	A	G	exonic	VCAN	.	nonsynonymous SNV	VCAN:NM_001164098:exon7:c.A2065G:p.T689A	Wagner syndrome 1, Autosomal dominant	.	4	1473	43	2	0	47	0.0157033	.	.	304794	Vitreoretinopathy|not_provided|Wagner_syndrome	Human_Phenotype_Ontology:HP:0000655,Human_Phenotype_Ontology:HP:0007773,MONDO:MONDO:0020248,MedGen:C0344290|MedGen:C3661900|Human_Phenotype_Ontology:HP:0030673,MONDO:MONDO:0007740,MedGen:C1840452,OMIM:143200,Orphanet:898	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.38	T	0.433	B	0.084	B	0.165	N	1.000	N	2.015	M	1.79	T	-1.062	T	0.026	T	0.044	-0.761	0.784	1.58	0.336	1.202	7.401	0.030	.	0.0076	0.00319489	0.0101	0.0023	0.0053	0	0.0271	0.0138	0.0089	0.0014	0.0095536	1477	154602	rs61754531	0.0091	0.0091	0.0090	0.0091	0.0175	0.0089	0.0089	0.0148	0.0137	0.0011	0.0051	0.0254	2.521e-05	0.0202	0.0175	0.0094	0.0101	0.0012	0.0086	0.0086	0.0081	0.0091	0.0107	0.0082	0.0081	0.0100	0.0098	0.0017	0.0230	0.0056	0.0274	0	0.0267	0.0238	0.0107	0.0109	0.0010	0.003	0.68238	D	0.251	0.23638	T	0.307	0.35643	B	0.038	0.29270	B	0.164934	0.17547	N	0.518499	1	0.08975	N	1.895	0.50365	L	1.79	0.25509	T	-1.47	0.35991	N	0.188	0.29889	-1.0623	0.11190	T	0.026	0.11131	T	10	0.0031641722	0.00053	T	.	.	.	0.030	0.07022	.	.	0.369524611565	0.36568	0.29958484737824154	0.29871	0.136464565353	0.15394	0.306628972292	0.11397	T	0.359068	0.72553	T	-0.630544	0.00095	T	-0.668121	0.07729	T	0.0110454887037031	0.00160	T	0.442656	0.12286	T	0.091377296	0.21410	0.11340915	0.27369	0.101171635	0.23896	0.095790066	0.22733	-4.656	0.32867	T	.	.	0.108	0.20625	B	.;.;.	.;.;.	0.869887	0.12427	8.961	0.82936663259159105	0.14454	0.11416	0.16619	N	AEFBI	0.055585	0.10205	N	-0.688813482016063	0.16339	0.831579	-0.790199770192224	0.14735	0.7714853	0.990387283956843	0.32135	0.553676	0.25195	0	0.588015	0.36545	0	0.575934	0.27490	0	0.413926	0.06862	2	.	.	4.03	1.58	0.22557	1.185000	0.31675	3.497000	0.38753	0.756000	0.94297	0.001000	0.13787	0.991000	0.31484	0.010000	0.09038	0.7289:0.0:0.2711:0.0	7.401	0.26133	956	0.09877	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	1590.98	42	chr5	83520371	.	A	G	1590.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.256;DP=951;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=1.39;SOR=0.671	GT:AD:DP:GQ:PL	0/1:63,60:123:99:1605,0,1765	20	0	1	0
chr5	84229857	84229857	G	A	exonic	EDIL3	.	nonsynonymous SNV	EDIL3:NM_005711:exon3:c.C224T:p.A75V,	.	.	433	1085	4	0	0	4	0.00183993	0.9975	0.842	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.0	B	0.0	B	0.211	N	1.000	D	-0.575	N	-3.18	D	-0.236	T	0.527	D	0.4	1.964	12.52	5.59	2.651	4.422	15.088	0.340	0.103964260077	7.7e-05	0.00119808	0.0010	0	0.0003	0	0	0.0002	0.0011	0.0062	0.0008279	128	154602	rs373427567	0.0004	0.0004	0.0002	0.0006	0.0057	0.0004	0.0004	0.0053	0.0051	5.999e-05	0.0002	0	0	0.0002	0.0012	7.323e-05	0.0005	0.0057	0.0002	0.0002	0.0001	0.0003	0.0050	0.0002	0.0001	0.0034	0.0029	2.414e-05	0	6.563e-05	0	0	0.0005	0	4.412e-05	0	0.0050	0.227	0.18498	T	0.29	0.21011	T	0.0	0.02946	B	0.0	0.01387	B	0.211475	0.16355	N	0.511500	0.999588	0.81001	D	-0.175	0.04276	N	-3.18	0.93111	D	-0.18	0.09796	N	0.477	0.51226	-0.2358	0.76735	T	0.527	0.82389	D	10	0.00824371	0.00187	T	0.103964	0.77829	D	0.340	0.66202	.	.	0.913080375384	0.91220	0.3142185820665382	0.31334	0.253741883956	0.27944	0.519153356552	0.41506	T	0.090292	0.38553	T	-0.222953	0.17593	T	-0.0911144	0.64078	T	0.0263975205994556	0.01459	T	0.383762	0.09387	T	0.25801623	0.48849	0.20345557	0.44423	0.25801623	0.48849	0.20345557	0.44422	-3.892	0.22182	T	.	.	0.082	0.08948	B	.	.	5.334451	0.89519	30	0.98769369152407549	0.45940	0.92756	0.56469	D	AEFI	0.725435	0.67442	D	-0.280947801577544	0.29884	1.661255	-0.0344761487483362	0.38169	2.244964	0.995251953071481	0.34029	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.59	5.59	0.84677	4.946000	0.63276	8.471000	0.77272	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.770000	0.36519	0.0:0.0:1.0:0.0	15.088	0.71840	967	0.07127	EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	982.98	33	chr5	84229857	.	G	A	982.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.784e+00;DP=753;ExcessHet=0.0000;FS=1.897;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=0.965;SOR=0.479	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1147	20	0	1	0
chr5	87268660	87268660	A	G	exonic	RASA1	.	nonsynonymous SNV	RASA1:NM_002890:exon1:c.A209G:p.E70G,	Basal cell carcinoma, somatic;Capillary malformation-arteriovenous malformation, Autosomal dominant;Parkes Weber syndrome	.	1	1515	6	0	0	6	0.00197628	.	.	304910	Parkes_Weber_syndrome|not_provided|Capillary_malformation-arteriovenous_malformation_syndrome|Cardiovascular_phenotype|Capillary_malformation-arteriovenous_malformation_1	MedGen:C5574870,Orphanet:2346|MedGen:C3661900|MONDO:MONDO:0012016,MedGen:C1842180,OMIM:PS608354,Orphanet:137667|MedGen:CN230736|MONDO:MONDO:0020783,MedGen:C4747394,OMIM:608354,Orphanet:137667,Orphanet:90307	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.123	N	0.999	N	0	N	-0.76	T	-0.900	T	0.122	T	0.098	-1.458	0.019	2.38	0.387	0.130	4.875	0.059	.	0.0005	0.00179712	0.0037	0.0009	0.0002	0.0114	0.0384	0.0015	0.0090	0.0011	0.0026326	407	154602	rs146525982	0.0017	0.0017	0.0017	0.0017	0.0149	0.0016	0.0016	0.0139	0.0136	0.0001	0.0003	0	0.0149	0.0235	0.0009	0.0004	0.0015	0.0008	0.0027	0.0027	0.0014	0.0041	0.0081	0.0025	0.0024	0.0062	0.0055	0.0003	0	0.0005	0	0.0081	0.0295	0	0.0006	0	0.0008	1.0	0.00964	T	0.396	0.15206	T	0.0	0.02946	B	0.0	0.01387	B	0.123476	0.02746	N	1.879670	1	0.08975	N	0	0.06538	N	-0.76	0.73417	T	0.11	0.05706	N	0.052	0.02366	-0.8999	0.48003	T	0.122	0.42441	T	10	0.0029049218	0.00047	T	.	.	.	0.059	0.16972	.	.	0.393040851499	0.38920	0.3008769697708993	0.30000	0.0648232492716	0.07235	0.760132551193	0.75948	T	0.216343	0.57848	T	-0.514241	0.00475	T	-0.503772	0.21958	T	0.00256413328082736	0.00027	T	0.165783	0.01535	T	0.041171614	0.06014	0.06164607	0.11937	0.04668987	0.07857	0.07896158	0.17734	-0.091	0.00383	T	.	.	0.045	0.00046	B	.	.	1.991476	0.25300	16.71	0.73212089933036495	0.10247	0.00162	0.00966	N	ALL	0.013993	0.00206	N	-1.06222468438648	0.07349	0.3411247	-0.950157712791872	0.10919	0.5530959	0.999999999998492	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.26	2.38	0.28415	0.272000	0.18407	3.496000	0.38747	-0.185000	0.09859	0.013000	0.18845	1.000000	0.68203	0.797000	0.37605	0.1219:0.2177:0.6605:0.0	4.875	0.13011	683	0.59664	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	752.98	51	chr5	87268660	.	A	G	752.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.852e+00;DP=767;ExcessHet=0.0000;FS=6.004;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.76;ReadPosRankSum=0.566;SOR=0.204	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1071	20	0	1	0
chr5	88206475	88206475	G	A	exonic	TMEM161B	.	nonsynonymous SNV	TMEM161B:NM_001349405:exon5:c.C77T:p.A26V	.	.	713	803	6	0	0	6	0.00372208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.202	B	0.034	B	0.000	D	1.000	D	2.11	M	.	.	-0.795	T	0.171	T	0.793	2.697	14.98	5.51	2.596	6.983	19.422	0.165	0.0072665829932	0.0057	0.00219649	0.0051	0.0019	0.0022	0	0.0008	0.0077	0.0046	0.0051	0.0041073	635	154602	rs62369771	0.0066	0.0067	0.0066	0.0066	0.0076	0.0065	0.0064	0.0075	0.0075	0.0008	0.0024	0.0024	2.541e-05	0.0014	0.0064	0.0076	0.0063	0.0047	0.0043	0.0043	0.0046	0.0040	0.0073	0.0040	0.0039	0.0068	0.0066	0.0012	0.0055	0.0035	0.0023	0.0002	0.0001	0	0.0073	0.0058	0.0048	0.417	0.25055	T	0.419	0.30143	T	0.202	0.29746	B	0.034	0.22546	B	0.000001	0.84330	D	0.095843	1	0.81001	D	2.33	0.66821	M	.	.	.	-1.89	0.44094	N	0.653	0.66358	-0.7949	0.55444	T	0.171	0.51181	T	9	0.008586347	0.00194	T	0.007267	0.19280	T	0.165	0.42395	.	.	0.0884992946249	0.08302	0.6433211322886058	0.64267	0.248921944762	0.27465	0.683779478073	0.64812	T	0.014186	0.23310	T	-0.117284	0.33568	T	0.0635991	0.74484	D	0.0249990377957096	0.01273	T	0.849515	0.54741	T	0.2779578	0.50851	0.28916922	0.54936	0.2779578	0.50851	0.28916922	0.54935	-7.777	0.59540	D	.	.	0.139	0.49711	B	.;.;.;.;.;.	.;.;.;.;.;.	3.362878	0.46435	22.3	0.97995278038187272	0.37431	0.99117	0.91475	D	AEFBI	0.870694	0.79176	D	0.111682650628339	0.47007	2.932562	0.27609114928051	0.54148	3.581	0.999999602734535	0.74766	0.554377	0.28877	0	0.601575	0.49859	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.51	5.51	0.81769	7.345000	0.78576	10.003000	0.83052	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	19.422	0.94717	767	0.49651	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	790.68	33	chr5	88206475	.	G	A	790.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.641;DP=614;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.54;ReadPosRankSum=0.134;SOR=0.653	GT:AD:DP:GQ:PL	0/0:33,0:33:82:0,82,907	18	0	3	0
chr5	90614967	90614967	G	A	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon2:c.G155A:p.R52H,	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	.	38	1481	3	0	0	3	0.0010118	.	.	269751	Usher_syndrome_type_2C|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472,Orphanet:231178,Orphanet:886|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.991	D	0.000	D	1.000	D	1.995	M	1.65	T	-0.848	T	0.201	T	0.932	5.405	34	6.07	2.885	8.248	20.659	0.457	0.3838965565	0.0002	.	0.0001	0.0006	0	0	0	0.0002	0	0	7.12e-05	11	154602	rs199798095	9.146e-05	9.166e-05	8.972e-05	9.325e-05	0.0007	7.83e-05	7.36e-05	0.0002	0.0001	6.229e-05	5.042e-05	0	0.0001	1.962e-05	0.0007	0.0001	8.603e-05	1.282e-05	0.0001	0.0001	0.0001	0.0001	0.0002	7.1e-05	5.755e-05	5.855e-05	4.248e-05	9.633e-05	0	0.0002	0	0.0002	0	0	0.0001	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.51	0.30937	T	-3.87	0.72594	D	0.686	0.69213	-0.8478	0.52120	T	0.201	0.55695	T	10	0.65599227	0.69877	D	0.383897	0.93035	D	0.457	0.75551	.	.	0.763501283187	0.76134	0.6904474850827335	0.68984	0.290895601099	0.31494	0.55219078064	0.46167	T	0.188388	0.54228	T	0.0651507	0.60254	T	0.149295	0.80138	D	0.905936896800995	0.55981	D	0.921908	0.71628	D	0.37520882	0.58967	0.24945705	0.50517	0.37520882	0.58967	0.24945705	0.50516	-1.812	0.02545	T	.	.	0.181	0.39288	B	.;.;.	.;.;.	4.991109	0.82740	27.9	0.99943770839925428	0.99868	0.94805	0.62390	D	AEFBCI	0.899187	0.84329	D	0.897618414361558	0.91640	10.98821	0.906608666424155	0.95854	14.03795	0.999999999999999	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	6.07	6.07	0.98675	8.024000	0.89145	11.706000	0.94575	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.659	0.99629	774	0.48577	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	837.98	34	chr5	90614967	.	G	A	837.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.865e+00;DP=802;ExcessHet=0.0000;FS=2.352;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.76;ReadPosRankSum=0.729;SOR=0.580	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1125	20	0	1	0
chr5	90622643	90622643	T	C	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon5:c.T500C:p.M167T,	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	.	0	1517	5	0	0	5	0.00164528	.	.	1155226	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.08	T	0.001	B	0.012	B	0.000	D	1.000	D	0	N	1.61	T	-1.085	T	0.068	T	0.17	2.095	12.96	5.85	2.234	7.624	16.234	0.109	0.0123590473518	8.3e-05	0.000399361	0.0011	0	0.0004	0	0	0.0002	0	0.0050	0.0004204	65	154602	rs201758835	0.0002	0.0003	0.0001	0.0003	0.0037	0.0002	0.0002	0.0033	0.0032	0	0	0	0	1.996e-05	0.0005	3.077e-05	0.0001	0.0037	0.0001	0.0001	5.14e-05	0.0002	0.0029	7.086e-05	5.743e-05	0.0018	0.0014	0	0	0	0	0	0	0	4.41e-05	0	0.0029	0.005	0.63226	D	0.12	0.69154	T	0.001	0.07471	B	0.012	0.16012	B	0.000001	0.62929	D	0.056320	0.874035	0.35619	D	.	.	.	0.92	0.44461	T	-0.62	0.18248	N	0.309	0.34874	-1.0849	0.06426	T	0.068	0.27913	T	10	0.009497881	0.00214	T	0.012359	0.30863	T	0.109	0.30843	.	.	0.535584383668	0.53208	0.5680420340445862	0.56732	0.0526653030617	0.05800	0.38083165884	0.22374	T	0.079986	0.36257	T	-0.487832	0.00668	T	-0.474669	0.25014	T	0.161857144073736	0.18008	T	0.19678	0.06490	T	0.29759622	0.52688	0.21308935	0.45805	0.29970396	0.52878	0.2199799	0.46756	-4.049	0.24534	T	.	.	0.272	0.50609	B	.;.;.	.;.;.	2.399188	0.30823	18.55	0.96638913245512037	0.30545	0.99065	0.90713	D	AEFBI	0.893014	0.83052	D	-0.147813536092463	0.35328	2.027793	0.0557143584712965	0.42349	2.559906	0.99999995856737	0.74766	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.564101	0.26826	0	.	.	5.85	5.85	0.93663	7.604000	0.82059	4.931000	0.46129	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.204000	0.22012	0.0:0.0:0.0:1.0	16.234	0.82186	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	925.98	34	chr5	90622643	.	T	C	925.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.809e+00;DP=806;ExcessHet=0.0000;FS=1.780;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.52;ReadPosRankSum=-1.191e+00;SOR=0.495	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1247	20	0	1	0
chr5	90651637	90651637	C	T	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon18:c.C3323T:p.T1108I,	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	.	.	.	.	.	.	.	.	.	.	1495892	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.991	D	0.000	D	1.000	D	2.18	M	1.42	T	-0.726	T	0.207	T	0.906	3.811	19.35	5.49	2.565	5.795	19.358	0.416	0.373445860939	.	.	1.803e-05	0	0	0	0	3.278e-05	0	0	1.29e-05	2	154602	rs773942000	6.87e-07	6.841e-07	0	1.38e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.005	0.72224	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.42	0.33189	T	-3.57	0.68999	D	0.933	0.93841	-0.7262	0.59154	T	0.207	0.56622	T	10	0.7298832	0.74225	D	0.373446	0.92802	D	0.416	0.72631	0.485	0.56780	0.75465191572	0.75242	0.7225374519118919	0.72197	0.281212396395	0.30597	0.574237465858	0.49276	T	0.455139	0.79441	T	0.230908	0.76806	D	0.109393	0.77534	D	0.92324560880661	0.58379	D	0.805419	0.45334	T	0.46687296	0.65098	0.32474974	0.58396	0.46687296	0.65099	0.32474974	0.58395	-6.207	0.47980	T	.	.	0.231	0.46836	B	.;.;.	.;.;.	3.952732	0.57923	23.9	0.99868766501057415	0.94637	0.98477	0.83190	D	AEFBI	0.808831	0.73250	D	0.666880268573508	0.77463	6.679916	0.606303312022192	0.75395	6.303264	1.0	0.98316	0.651	0.46895	0	0.633656	0.55848	0	0.65145	0.50148	0	0.542086	0.14980	0	.	.	5.49	5.49	0.81022	5.871000	0.69377	7.625000	0.62478	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.855000	0.40485	0.0:1.0:0.0:0.0	19.358	0.94412	700	0.57880	.;.;Na-Ca exchanger/integrin-beta4	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	713.98	35	chr5	90651637	.	C	T	713.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.269;DP=763;ExcessHet=0.0000;FS=4.165;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.60;ReadPosRankSum=0.959;SOR=1.148	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1172	20	0	1	0
chr5	90689978	90689978	T	C	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon30:c.T6608C:p.V2203A,	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	YES	0	1470	51	1	0	53	0.017708	.	.	55519	Usher_syndrome_type_2C|not_provided|not_specified	MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472,Orphanet:231178,Orphanet:886|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.194	B	0.249	B	0.001	D	1.000	D	2.685	M	1.13	T	-0.725	T	0.190	T	0.49	4.579	24.9	5.36	2.025	7.763	15.384	0.355	.	0.0018	0.00239617	0.0034	0.0001	0.0009	0	0.0004	0.0032	0.0091	0.0098	0.0023544	364	154602	rs200055351	0.0022	0.0022	0.0019	0.0024	0.0184	0.0021	0.0021	0.0156	0.0145	0.0004	0.0008	0.0073	0	0.0010	0.0184	0.0016	0.0038	0.0090	0.0016	0.0016	0.0015	0.0017	0.0106	0.0014	0.0014	0.0083	0.0074	0.0003	0	0.0007	0.0095	0	0.0004	0.0272	0.0018	0.0038	0.0106	0.002	0.72154	D	0.004	0.74150	D	0.194	0.29493	B	0.249	0.38982	B	0.000861	0.41440	D	0.246545	0.999658	0.48079	D	.	.	.	1.13	0.38556	T	-3.38	0.66780	D	0.761	0.75927	-0.7245	0.59239	T	0.190	0.54198	T	10	0.009311885	0.00210	T	.	.	.	0.355	0.67600	.	.	0.706577926717	0.70402	0.6962042043904647	0.69561	0.0558218804441	0.06170	0.449944078922	0.31936	T	0.182942	0.53512	T	-0.328345	0.06238	T	-0.238307	0.50964	T	0.0525185356157373	0.05937	T	0.729427	0.34485	T	0.4285325	0.62656	0.5772997	0.75507	0.5112676	0.67754	0.55358535	0.74184	-10.066	0.74306	D	.	.	0.798	0.78051	P	.;.;.	.;.;.	3.371981	0.46602	22.3	0.99857624987460625	0.93639	0.99105	0.91299	D	AEFBI	0.896823	0.83830	D	0.37838958595883	0.60253	4.212213	0.467032345042676	0.65816	4.872094	0.999999999999443	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.670488	0.60580	0	0.564101	0.26826	0	.	.	5.36	5.36	0.76624	7.742000	0.83928	7.899000	0.73451	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	15.384	0.74403	605	0.67457	.;.;Na-Ca exchanger/integrin-beta4|Na-Ca exchanger/integrin-beta4	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1061.98	111	chr5	90689978	.	T	C	1061.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.630e-01;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.57;ReadPosRankSum=1.11;SOR=0.625	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1317	20	0	1	0
chr5	90720207	90720207	T	A	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon44:c.T9607A:p.S3203T,	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	.	2	1519	1	0	0	1	0.000329056	.	.	174448	Usher_syndrome_type_2C|not_specified|not_provided	MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472,Orphanet:231178,Orphanet:886|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.39	T	0.031	B	0.004	B	0.275	N	1.000	D	1.185	L	1.68	T	-1.097	T	0.030	T	0.162	2.379	13.91	6.08	2.333	3.868	16.644	0.067	.	0.0050	0.00698882	0.0020	0.0199	0.0007	0	0	0.0002	0.0014	0	0.00152	235	154602	rs116480183	0.0005	0.0005	0.0006	0.0004	0.0173	0.0005	0.0005	0.0161	0.0156	0.0173	0.0011	0	0	0	0.0005	5.271e-05	0.0010	0	0.0048	0.0048	0.0052	0.0045	0.0166	0.0045	0.0044	0.0156	0.0152	0.0166	0	0.0017	0	0	0	0.0034	0.0001	0.0038	0	0.378	0.11262	T	0.394	0.15305	T	0.031	0.20130	B	0.004	0.10090	B	0.275118	0.15052	N	0.697990	0.706001	0.33469	D	.	.	.	1.68	0.27184	T	-0.86	0.23372	N	0.217	0.24260	-1.0966	0.04528	T	0.030	0.12717	T	10	0.003653735	0.00067	T	.	.	.	0.067	0.19503	.	.	0.435915822735	0.43211	0.32436649867565337	0.32349	0.250280308182	0.27603	0.390184372663	0.23695	T	0.121706	0.44485	T	-0.532862	0.00369	T	-0.523259	0.19966	T	0.0235086113147259	0.01085	T	0.556944	0.19352	T	0.17565817	0.38437	0.11157815	0.26916	0.22010528	0.44557	0.14336318	0.34072	-4.332	0.28623	T	.	.	0.079	0.07365	B	.;.	.;.	2.304130	0.29484	18.14	0.9241644849677596	0.21832	0.98246	0.80894	D	AEFBI	0.359099	0.44955	N	-0.0435845044946148	0.39889	2.359772	0.17006282293739	0.48216	3.040457	0.998936275379266	0.38009	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	6.08	6.08	0.98982	3.894000	0.55963	4.248000	0.42743	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	16.644	0.85012	606	0.67383	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	712.98	35	chr5	90720207	.	T	A	712.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.140e-01;DP=827;ExcessHet=0.0000;FS=3.569;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.58;ReadPosRankSum=-4.380e-01;SOR=1.584	GT:AD:DP:GQ:PL	0/0:38,0:38:90:0,90,1350	20	0	1	0
chr5	90778546	90778546	C	G	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon63:c.C12786G:p.S4262R,	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.015	M	1.54	T	-0.724	T	0.184	T	0.924	3.089	16.32	-2.44	-0.153	-0.596	10.075	0.518	0.474123416816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.99998	0.54805	D	.	.	.	1.54	0.30133	T	-3.81	0.71882	D	0.806	0.80180	-0.7244	0.59244	T	0.184	0.53225	T	10	0.6327611	0.68611	D	0.474123	0.94730	D	0.518	0.79461	0.465	0.53566	0.415564226483	0.41173	0.8401427610092328	0.83974	0.325380680824	0.34690	0.591660737991	0.51728	T	0.31192	0.68378	T	0.18038	0.72077	D	0.0213268	0.71716	D	0.98555588722229	0.76514	D	0.861914	0.55630	D	0.92631596	0.93869	0.7218319	0.83574	0.92631596	0.93870	0.7218319	0.83574	-11.877	0.84246	D	.	.	0.945	0.86393	P	.;.;.	.;.;.	0.599994	0.09684	6.455	0.99594800037347764	0.73807	0.43671	0.27149	N	AEFBI	0.348373	0.44252	N	-0.313711924830796	0.28627	1.580528	-0.514027183797872	0.21771	1.179381	1.86315971267034E-4	0.05844	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.69	-2.44	0.06126	-0.672000	0.05345	-1.690000	0.04909	-2.509000	0.00261	0.097000	0.22731	0.000000	0.08366	0.049000	0.15107	0.0:0.3427:0.0:0.6573	10.075	0.41530	658	0.62094	.;.;Na-Ca exchanger/integrin-beta4|Na-Ca exchanger/integrin-beta4	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	568.98	41	chr5	90778546	.	C	G	568.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.19;DP=782;ExcessHet=0.0000;FS=2.149;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.01;ReadPosRankSum=2.02;SOR=1.116	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1056	20	0	1	0
chr5	91373714	91373714	A	C	exonic	ARRDC3	.	nonsynonymous SNV	ARRDC3:NM_001329671:exon6:c.T498G:p.F166L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.956	P	0.899	P	0.000	D	1.000	D	2.18	M	2.67	T	-1.106	T	0.069	T	0.732	4.351	22.9	-0.933	0.060	0.408	12.035	0.244	0.0183909304288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.004	0.74150	D	0.956	0.54666	P	0.899	0.63802	P	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	2.41	0.69639	M	2.67	0.12473	T	-3.89	0.72820	D	0.692	0.69737	-1.1061	0.03427	T	0.069	0.28247	T	10	0.79993737	0.79410	D	0.018391	0.40438	T	0.244	0.55061	0.778	0.90312	0.370644970701	0.36680	0.7220131748588393	0.72145	1.45752385039	0.86286	0.868124127388	0.92300	D	0.263007	0.63465	T	-0.0104081	0.50209	T	-0.252727	0.49547	T	0.992111563682556	0.82518	D	0.906109	0.66926	D	0.40703014	0.61216	0.40540364	0.64941	0.40703014	0.61217	0.40540364	0.64941	-9.573	0.71313	D	.	.	0.993	0.94534	P	.	.	3.285505	0.45031	22.1	0.99803578704541662	0.88817	0.87661	0.47275	D	AEFDBHCI	0.294237	0.40466	N	0.200826343201698	0.51240	3.306814	0.117557709340974	0.45448	2.807703	0.999998904344678	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.575934	0.27490	0	0.741806	0.99463	0	.	.	5.86	-0.933	0.09900	0.418000	0.20950	1.080000	0.23883	0.756000	0.94297	0.996000	0.39380	0.995000	0.32472	0.996000	0.76049	0.5614:0.0:0.4386:0.0	12.035	0.52718	897	0.25382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	813.98	33	chr5	91373714	.	A	C	813.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.552;DP=768;ExcessHet=0.0000;FS=0.865;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.71;ReadPosRankSum=-1.095e+00;SOR=0.834	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1280	20	0	1	0
chr5	94653297	94653297	A	C	exonic	SLF1	.	nonsynonymous SNV	SLF1:NM_032290:exon8:c.A908C:p.D303A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.084	B	0.034	B	0.554	N	0.997	N	1.24	L	0.9	T	-1.003	T	0.081	T	0.157	1.547	11.13	1.88	0.279	1.623	6.310	0.035	0.0237467521005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.055	0.46862	T	0.084	0.24799	B	0.034	0.22546	B	0.554363	0.11402	N	0.753193	0.997451	0.22652	N	.	.	.	0.9	0.45248	T	-0.64	0.18670	N	0.17	0.18103	-1.0033	0.28963	T	0.081	0.32119	T	10	0.081843376	0.13442	T	0.023747	0.46723	T	0.035	0.08770	0.172	0.07774	0.338110398507	0.33423	0.11854980926704137	0.11781	0.107536027584	0.12137	0.352903664112	0.18348	T	0.070931	0.34083	T	-0.197107	0.21222	T	-0.520907	0.20202	T	0.148288995027542	0.16966	T	0.614838	0.23473	T	0.08865245	0.20687	0.07241699	0.15620	0.08865245	0.20686	0.07241699	0.15620	-5.95	0.45859	T	.	.	0.141	0.30868	B	.	.	2.469665	0.31833	18.86	0.98297234926802002	0.40011	0.80129	0.39850	D	AEFBI	0.060334	0.11458	N	-0.633361643323435	0.17948	0.9279462	-0.590047746383198	0.19752	1.061169	0.815653968368636	0.24434	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.31	1.88	0.24630	1.377000	0.33923	.	.	-0.054000	0.16847	0.892000	0.31242	1.000000	0.68203	0.963000	0.52385	0.7892:0.0:0.2108:0.0	6.310	0.20364	864	0.32732	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	578.98	34	chr5	94653297	.	A	C	578.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.26;DP=725;ExcessHet=0.0000;FS=7.039;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.35;ReadPosRankSum=0.907;SOR=2.030	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1145	20	0	1	0
chr5	94708578	94708578	A	T	exonic	MCTP1	.	nonsynonymous SNV	MCTP1:NM_001297777:exon19:c.T1941A:p.S647R	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.837	P	0.448	P	0.000	D	1.000	D	-1.04	N	0.0	T	-0.879	T	0.146	T	0.318	2.812	15.37	3.94	0.903	2.382	8.221	0.112	0.0328861670327	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1303683134	6.854e-07	6.84e-07	0	1.378e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	0.09264	T	0.009	0.66756	D	0.837	0.46346	P	0.448	0.46037	P	0.000051	0.53742	D	0.206735	0.998067	0.45528	D	-1.28	0.00734	N	-1.03	0.76430	T	-0.26	0.11185	N	0.513	0.54409	-0.8786	0.49872	T	0.146	0.47092	T	10	0.10715276	0.19891	T	0.032886	0.54590	D	0.112	0.31546	0.421	0.46365	0.326881540566	0.32305	0.6117209323001348	0.61104	1.19461018506	0.80358	0.486866146326	0.37005	T	0.01376	0.11844	T	-0.0317791	0.47159	T	-0.283425	0.46453	T	0.947543978691101	0.62704	D	0.927307	0.73215	D	0.09222847	0.21630	0.08235821	0.18789	0.09222847	0.21630	0.08235821	0.18788	-6.837	0.58534	T	.	.	0.799	0.77241	P	.;.;.;.;.	.;.;.;.;.	3.713002	0.53021	23.3	0.99444164624713971	0.64921	0.80963	0.40471	D	AEFGBHCI	0.433026	0.49466	N	-0.431417507959181	0.24375	1.315662	-0.219092353543329	0.30852	1.740705	0.999981668453423	0.51787	0.732398	0.92422	0	0.724815	0.89359	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	5.1	3.94	0.44807	2.951000	0.48782	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.8444:0.0:0.1556:0.0	8.221	0.30703	855	0.34697	Phosphoribosyltransferase C-terminal;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1325.98	33	chr5	94708578	.	A	T	1325.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.001e+00;DP=803;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=-7.120e-01;SOR=0.674	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1281	20	0	1	0
chr5	94917957	94917957	G	A	exonic	MCTP1	.	nonsynonymous SNV	MCTP1:NM_001002796:exon8:c.C626T:p.A209V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.0	B	0.002	B	0.654	N	0.978	N	0.69	N	-0.85	T	-0.892	T	0.242	T	0.1	0.057	4.313	0.023	-0.195	0.336	7.965	0.092	0.0223382344442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.20835	T	0.257	0.23231	T	0.0	0.02946	B	0.001	0.06944	B	0.654435	0.10483	N	0.827446	0.999998	0.25305	N	0.345	0.11182	N	-1.05	0.76690	T	-0.11	0.08653	N	0.131	0.12770	-0.8919	0.48767	T	0.242	0.61036	T	10	0.05772838	0.06675	T	0.022338	0.45218	T	0.092	0.26621	0.46	0.52753	0.167679373172	0.16340	0.21328893533460982	0.21244	0.39476767676	0.40628	0.319848179817	0.13398	T	0.009768	0.08869	T	-0.167556	0.25604	T	-0.478459	0.24611	T	0.0183257409189131	0.00551	T	0.649735	0.26051	T	0.035266653	0.04117	0.046123948	0.06359	0.035266653	0.04116	0.046123948	0.06359	-3.556	0.17225	T	.	.	0.081	0.08129	B	.;.;.;.	.;.;.;.	1.665901	0.21242	15.11	0.7458720122530752	0.10751	0.07849	0.13842	N	AEFBCI	0.064778	0.12598	N	-1.20075927317162	0.04989	0.2264372	-1.1844763609419	0.06169	0.2960843	0.101981413849868	0.16399	0.67177	0.52595	0	0.588015	0.36545	0	0.573888	0.23631	0	0.711	0.71501	0	.	.	5.14	0.023	0.13455	0.257000	0.18137	.	.	-0.946000	0.02057	0.152000	0.23684	0.324000	0.24338	0.536000	0.29845	0.4707:0.0:0.5293:0.0	7.965	0.29255	405	0.82444	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	566.98	34	chr5	94917957	.	G	A	566.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.200e-01;DP=742;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.78;ReadPosRankSum=0.070;SOR=0.746	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1114	20	0	1	0
chr5	95414027	95414027	T	C	exonic	FAM81B	.	nonsynonymous SNV	FAM81B:NM_152548:exon4:c.T374C:p.I125T,	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.973	D	0.676	P	0.003	N	0.999	N	0.895	L	2.38	T	-1.052	T	0.035	T	0.505	-0.264	2.732	5.53	2.104	2.505	7.004	0.169	0.00941046523287	0.0003	.	0.0001	0	0	0	0	0.0001	0.0011	0.0004	9.7e-05	15	154602	rs370114367	6.977e-05	6.977e-05	5.037e-05	8.938e-05	0.0006	5.846e-05	5.457e-05	0.0004	0.0004	0	0	0	0	0	0.0005	3.597e-05	0.0002	0.0006	9.859e-05	9.85e-05	7.71e-05	0.0001	0.0002	6.008e-05	4.881e-05	9.047e-05	7.011e-05	0	0	0	0	0	0	0.0063	0.0002	0.0005	0.0002	1.0	0.00964	T	0.659	0.06533	T	.	.	.	.	.	.	0.003033	0.35542	N	0.304822	0.99929	0.21398	N	.	.	.	2.38	0.15843	T	1.81	0.00507	N	0.201	0.22228	-1.0525	0.13709	T	0.035	0.14943	T	10	0.05315727	0.05462	T	0.00941	0.24670	T	0.169	0.43123	.	.	0.32082282376	0.31691	0.19952218366301971	0.19869	0.212584941534	0.23763	0.380276083946	0.22296	T	.	.	.	-0.395477	0.02479	T	-0.469593	0.25560	T	0.102722830032188	0.12654	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.26545	B	.	.	1.654362	0.21106	15.05	0.54921297827412086	0.05235	0.25248	0.22641	N	AEFGBI	0.059096	0.11135	N	-0.0530813087160384	0.39465	2.327711	-0.0395620494319849	0.37947	2.22872	0.722402032909137	0.22948	0.553676	0.25195	0	0.624306	0.53593	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.53	5.53	0.82530	2.750000	0.47177	2.885000	0.35353	0.665000	0.62972	0.728000	0.28902	0.275000	0.24072	0.282000	0.24066	0.0:0.1633:0.0:0.8367	7.004	0.24002	646	0.63441	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2518.98	149	chr5	95414027	.	T	C	2518.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.713;DP=1651;ExcessHet=0.0000;FS=0.576;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.65;ReadPosRankSum=-3.170e-01;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1205	20	0	1	0
chr5	95436867	95436867	-	C	exonic	FAM81B	.	frameshift insertion	FAM81B:NM_152548:exon7:c.854_855insC:p.Q285Hfs*21,	.	.	439	1068	14	1	0	16	0.00743494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0065	.	0.0048	0.0014	0.0016	0	0.0005	0.0063	0.0045	0.0073	0.0012294	32	26028	rs373017124	0.0059	0.0060	0.0060	0.0058	0.0075	0.0058	0.0058	0.0062	0.0062	0.0009	0.0020	0.0168	0	0.0010	0.0075	0.0063	0.0064	0.0066	0.0044	0.0044	0.0043	0.0045	0.0065	0.0041	0.0040	0.0060	0.0058	0.0011	0	0.0031	0.0248	0	0.0006	0	0.0065	0.0038	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1566.94	34	chr5	95436867	.	A	AC	1566.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.210e-01;DP=800;ExcessHet=0.0000;FS=2.599;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.24;ReadPosRankSum=-1.130e-01;SOR=0.997	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1252	20	0	1	0
chr5	95436872	95436872	G	A	exonic	FAM81B	.	nonsynonymous SNV	FAM81B:NM_152548:exon7:c.G859A:p.D287N,	.	.	439	1068	14	1	0	16	0.00743494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.989	D	0.749	P	0.000	D	0.987	N	2.215	M	1.95	T	-1.003	T	0.097	T	0.056	4.333	22.8	5.47	2.569	2.129	12.256	0.137	0.00538752560431	.	.	0.0048	0.0016	0.0016	0	0.0005	0.0063	0.0045	0.0073	0.0044631	690	154602	rs201688877	0.0059	0.0060	0.0060	0.0058	0.0075	0.0058	0.0058	0.0062	0.0062	0.0010	0.0020	0.0168	5.04e-05	0.0010	0.0075	0.0063	0.0064	0.0066	0.0044	0.0044	0.0043	0.0045	0.0065	0.0041	0.0040	0.0060	0.0058	0.0012	0	0.0031	0.0248	0	0.0006	0	0.0065	0.0038	0.0060	0.083	0.33091	T	0.107	0.37730	T	.	.	.	.	.	.	0.000069	0.52346	D	0.122706	0.986949	0.24567	N	.	.	.	1.95	0.22474	T	-1.92	0.44657	N	0.219	0.24510	-1.0032	0.28992	T	0.097	0.36315	T	10	0.0063349307	0.00143	T	0.005388	0.13832	T	0.137	0.36984	.	.	0.278143212241	0.27437	0.21449996010531316	0.21365	0.109081632923	0.12296	0.457668781281	0.32991	T	.	.	.	-0.614857	0.00118	T	-0.651831	0.08826	T	0.0325736749937369	0.02400	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27463	B	.	.	2.568296	0.33279	19.29	0.9989743163314726	0.96971	0.83926	0.43016	D	AEFDI	0.299339	0.40842	N	0.596596665877726	0.72961	5.888983	0.59403733528744	0.74510	6.149495	0.508603302744433	0.21001	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.47	5.47	0.80345	1.685000	0.37277	5.830000	0.50156	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0822:0.0:0.9178:0.0	12.256	0.53939	629	0.65079	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1473.98	34	chr5	95436872	.	G	A	1473.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.340e-01;DP=791;ExcessHet=0.0000;FS=1.666;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=-7.000e-03;SOR=0.905	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1252	20	0	1	0
chr5	95450253	95450253	C	T	exonic	FAM81B	.	nonsynonymous SNV	FAM81B:NM_152548:exon10:c.C1330T:p.R444C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.966	D	0.000	D	0.996	D	2.125	M	1.86	T	-0.863	T	0.172	T	0.632	4.482	24.0	5.71	2.687	1.581	18.629	0.139	0.0225169154418	.	.	1.658e-05	0	0	0	0	2.999e-05	0	0	1.29e-05	2	154602	rs201358737	1.78e-05	1.779e-05	9.537e-06	2.615e-05	4.484e-05	1.238e-05	1.052e-05	1.175e-05	9.55e-06	0	4.484e-05	0	2.528e-05	0	0	1.799e-05	4.973e-05	0	6.573e-06	6.568e-06	1.285e-05	0	6.548e-05	0	0	.	.	0	0	6.548e-05	0	0	0	0	0	0	0	0.001	0.78490	D	0.001	0.83351	D	.	.	.	.	.	.	0.000119	0.50451	D	0.127712	0.995506	0.42722	D	.	.	.	1.86	0.24285	T	-4.17	0.89152	D	0.189	0.20660	-0.8625	0.51082	T	0.172	0.51405	T	10	0.2861668	0.46199	T	0.022517	0.45416	T	0.139	0.37390	0.241	0.17371	0.45461005305	0.45086	0.3429401951790748	0.34207	0.547469509892	0.51713	0.47903573513	0.35924	T	0.146298	0.48384	T	-0.108734	0.34978	T	-0.286309	0.46154	T	0.985092580318451	0.76191	D	0.783622	0.42065	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.54961	B	.;.	.;.	4.728876	0.76146	26.5	0.99887925427706381	0.96281	0.80133	0.39853	D	AEFBI	0.417508	0.48552	N	0.681438311983813	0.78416	6.867296	0.666931026350093	0.79878	7.176185	0.997087668261988	0.35260	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.71	5.71	0.89031	1.670000	0.37118	2.746000	0.34499	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.629	0.91310	610	0.67008	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	862.98	34	chr5	95450253	.	C	T	862.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.130e-01;DP=779;ExcessHet=0.0000;FS=1.661;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.18;ReadPosRankSum=-2.620e-01;SOR=0.892	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1118	20	0	1	0
chr5	96762275	96762275	A	G	exonic	CAST	.	nonsynonymous SNV	CAST:NM_001042446:exon20:c.A1424G:p.K475R	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, Autosomal recessive	.	424	1095	3	0	0	3	0.00136799	0.0018	0.2	721602	not_provided|CAST-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.27	T	0.693	P	0.32	B	0.673	N	1.000	N	1.815	L	2.06	T	-1.027	T	0.060	T	0.164	2.594	14.63	1.79	0.382	1.635	4.700	0.020	.	0.0059	0.0071885	0.0022	0.0204	0.0011	0.0001	0	0.0002	0	0.0020	0.0019534	302	154602	rs61744247	0.0008	0.0009	0.0008	0.0009	0.0214	0.0008	0.0008	0.0201	0.0195	0.0214	0.0012	0	0.0001	0	0.0045	0.0001	0.0018	0.0024	0.0060	0.0060	0.0062	0.0058	0.0200	0.0057	0.0056	0.0188	0.0184	0.0200	0	0.0029	0	0.0006	0	0.0068	0.0002	0.0038	0.0027	0.134	0.31987	T	0.257	0.23914	T	0.2	0.35666	B	0.167	0.38314	B	0.673072	0.10324	N	0.854789	0.999967	0.21065	N	2.74	0.80084	M	2.06	0.20523	T	-0.89	0.25118	N	0.096	0.14196	-1.0273	0.21331	T	0.060	0.25163	T	10	0.004529983	0.00094	T	.	.	.	0.020	0.03691	.	.	0.490631539035	0.48696	0.05203074146582141	0.05145	0.0683638955007	0.07654	0.314613997936	0.12605	T	0.144704	0.48147	T	-0.516137	0.00463	T	-0.498576	0.22495	T	0.0195082727042479	0.00655	T	0.957071	0.83814	D	0.036668483	0.04556	0.039657358	0.04108	0.037605114	0.04852	0.041934803	0.04880	-4.684	0.35008	T	.	.	0.087	0.13923	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.570082	0.50282	22.9	0.99597617678120132	0.73983	0.28540	0.23582	N	AEFBI	0.183457	0.31078	N	-0.0297264364060262	0.40512	2.407171	-0.232657051890351	0.30373	1.709603	0.988995492418459	0.31691	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.32	1.79	0.23992	1.723000	0.37675	3.288000	0.37283	0.756000	0.94297	0.547000	0.27322	0.880000	0.27694	0.726000	0.34967	0.7073:0.1917:0.101:0.0	4.700	0.12201	885	0.28214	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	460.98	33	chr5	96762275	.	A	G	460.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.782;DP=736;ExcessHet=0.0000;FS=2.336;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.09;ReadPosRankSum=-8.520e-01;SOR=1.051	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,918	20	0	1	0
chr5	96776478	96776478	A	G	exonic	ERAP1	.	nonsynonymous SNV	ERAP1:NM_001040458:exon19:c.T2744C:p.I915T	.	.	423	1096	3	0	0	3	0.00136674	.	.	699220	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.12	T	0.998	D	0.971	D	0.000	N	1.000	D	2.62	M	3.05	T	-1.129	T	0.059	T	0.969	4.543	24.5	5.97	2.288	8.627	16.122	0.555	.	0.0022	0.00219649	0.0008	0.0057	0.0005	0.0001	0	0.0002	0	0.0012	0.0007697	119	154602	rs139576768	0.0005	0.0005	0.0004	0.0005	0.0065	0.0005	0.0004	0.0058	0.0055	0.0065	0.0006	0	0.0002	0	0.0040	0.0002	0.0012	0.0018	0.0018	0.0018	0.0017	0.0019	0.0053	0.0016	0.0015	0.0048	0.0045	0.0053	0	0.0012	0	0.0006	0	0.0068	0.0002	0.0014	0.0019	0.001	0.78490	D	0.001	0.83351	D	0.994	0.73220	D	0.951	0.72444	D	0.000000	0.84330	N	0.048031	1	0.81001	D	3.065	0.87014	M	3.05	0.08721	T	-4.14	0.75220	D	0.901	0.90138	-1.1285	0.01855	T	0.059	0.24797	T	10	0.02996838	0.01123	T	.	.	.	0.555	0.81659	.	.	0.346544149963	0.34258	0.5907754780731668	0.59007	0.479642199148	0.46996	0.639778673649	0.58532	T	0.149916	0.48915	T	-0.0774476	0.40129	T	0.117342	0.78059	D	0.0422725805326425	0.04105	T	0.923008	0.71997	D	0.8191324	0.85162	0.7728967	0.86596	0.8191324	0.85163	0.7728967	0.86597	-7.14	0.55049	T	.	.	0.217	0.44732	B	.;.	.;.	5.037229	0.83818	28.1	0.99872006913377842	0.94989	0.96906	0.71586	D	AEFBCI	0.887153	0.81917	D	0.868011009697754	0.90109	10.25654	0.852794407607668	0.93178	11.87404	0.999999999964948	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.97	5.97	0.96935	8.799000	0.91516	11.224000	0.89870	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.122	0.81179	896	0.25515	.;ERAP1-like C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1146.98	45	chr5	96776478	.	A	G	1146.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.570e-01;DP=897;ExcessHet=0.0000;FS=3.683;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=-6.920e-01;SOR=1.085	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1341	20	0	1	0
chr5	96785792	96785792	C	T	exonic	ERAP1	.	nonsynonymous SNV	ERAP1:NM_001040458:exon13:c.G1939A:p.V647I	.	.	427	1045	47	3	0	53	0.0247317	.	.	2827895	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.994	D	0.973	D	0.000	D	1.000	D	2.62	M	3.32	T	-1.138	T	0.076	T	0.369	4.315	22.6	5.77	2.724	7.372	19.593	0.276	.	0.0018	0.00159744	0.0034	0.0007	0.0029	0	0.0002	0.0020	0.0078	0.0137	0.0030724	475	154602	rs111363347	0.0026	0.0026	0.0022	0.0030	0.0243	0.0026	0.0025	0.0210	0.0198	0.0004	0.0020	0.0022	7.558e-05	0.0001	0.0243	0.0018	0.0033	0.0149	0.0016	0.0016	0.0016	0.0017	0.0101	0.0015	0.0014	0.0079	0.0071	0.0002	0	0.0027	0.0014	0.0002	0	0.0204	0.0018	0.0057	0.0101	0.034	0.44029	D	0.028	0.54934	D	0.993	0.66517	D	0.955	0.72923	D	0.000200	0.48115	D	0.179513	0.999999	0.58761	D	2.885	0.83555	M	3.32	0.06214	T	-0.75	0.21003	N	0.322	0.36359	-1.1379	0.01439	T	0.076	0.30429	T	10	0.0092540085	0.00209	T	.	.	.	0.276	0.59253	.	.	0.416956310301	0.41315	0.6255793439771128	0.62490	0.348272605842	0.36702	0.387608021498	0.23332	T	0.061309	0.31620	T	-0.423924	0.01615	T	-0.370037	0.36884	T	0.0450658334183876	0.04613	T	0.975602	0.91418	D	0.5307451	0.68873	0.57157373	0.75189	0.5307451	0.68874	0.57157373	0.75190	-8.234	0.62654	D	.	.	0.173	0.40376	B	.;.	.;.	4.297696	0.65597	24.9	0.99856502613431009	0.93548	0.95510	0.65007	D	AEFGBCI	0.785201	0.71565	D	0.744243113532959	0.82529	7.785265	0.682845202672003	0.81076	7.443103	0.999999999999986	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.77	5.77	0.91077	7.537000	0.80946	7.718000	0.67175	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.512000	0.29290	0.0:1.0:0.0:0.0	19.593	0.95520	893	0.26510	.;ERAP1-like C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4044.11	34	chr5	96785792	.	C	T	4044.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.982;DP=1071;ExcessHet=0.1072;FS=1.458;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.09;ReadPosRankSum=-2.070e-01;SOR=0.601	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1294	19	0	2	0
chr5	96895352	96895352	T	G	exonic	ERAP2	.	nonsynonymous SNV	ERAP2:NM_001329229:exon6:c.T1097G:p.L366R	.	.	440	1061	20	1	0	22	0.0102612	.	.	195748	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.98	D	0.979	D	0.000	D	1.000	D	2.71	M	4.17	T	-1.178	T	0.040	T	0.746	3.678	18.69	4.74	1.904	5.502	13.506	0.282	0.0175764627753	0.0035	0.00259585	0.0042	0.0008	0.0023	0.0001	0.0018	0.0056	0.0077	0.0047	0.0040814	631	154602	rs34261036	0.0039	0.0039	0.0037	0.0040	0.0211	0.0038	0.0037	0.0180	0.0169	0.0005	0.0032	0.0046	0	0.0021	0.0211	0.0041	0.0044	0.0040	0.0034	0.0034	0.0032	0.0036	0.0056	0.0031	0.0030	0.0048	0.0046	0.0006	0	0.0038	0.0035	0	0.0021	0.0102	0.0052	0.0057	0.0056	0.0	0.91255	D	0.003	0.76473	D	0.915	0.59353	P	0.979	0.74454	D	0.000108	0.50451	D	0.000000	0.907464	0.36324	D	2.47	0.71715	M	4.17	0.02767	T	-4.54	0.81030	D	0.8	0.79599	-1.1776	0.00406	T	0.040	0.17149	T	10	0.005635202	0.00125	T	0.017576	0.39335	T	0.282	0.59981	.	.	0.372993862945	0.36913	0.6268340642401682	0.62616	0.378693144737	0.39273	0.501991987228	0.39106	T	0.086765	0.37795	T	-0.286898	0.09949	T	-0.182551	0.56287	T	0.0274580849501722	0.01610	T	0.919208	0.70989	D	0.95011187	0.96277	0.8890843	0.94202	0.95011187	0.96277	0.8890843	0.94202	-10.268	0.77139	D	.	.	0.235	0.57823	B	.;.;.	.;.;.	4.525717	0.71002	25.6	0.9976258417103987	0.85172	0.95379	0.64490	D	AEFGBI	0.379403	0.46243	N	0.640707828479262	0.75767	6.364786	0.559659826818244	0.72072	5.752534	0.999999098623956	0.74766	0.651	0.46895	0	0.653731	0.59785	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.74	4.74	0.59717	4.771000	0.62011	7.052000	0.57375	0.587000	0.30956	0.882000	0.31029	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	13.506	0.60942	905	0.23532	Peptidase M1, membrane alanine aminopeptidase, N-terminal;Peptidase M1, membrane alanine aminopeptidase, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	860.98	37	chr5	96895352	.	T	G	860.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.080e-01;DP=862;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.90;ReadPosRankSum=0.303;SOR=0.782	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr5	97094954	97094954	G	A	exonic	LIX1	.	nonsynonymous SNV	LIX1:NM_153234:exon6:c.C643T:p.R215W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.968	D	0.231	B	0.001	D	0.780	N	0.345	N	0.85	T	-1.010	T	0.057	T	0.52	2.499	14.32	3.19	0.391	4.556	5.523	0.204	0.0256540391781	.	0.00119808	0.0007	9.718e-05	0	0.0001	0	1.499e-05	0.0011	0.0052	0.0006533	101	154602	rs373055209	0.0003	0.0003	0.0002	0.0004	0.0037	0.0003	0.0003	0.0034	0.0033	0.0002	2.236e-05	0	0	0	0.0003	5.396e-05	0.0004	0.0037	9.856e-05	9.844e-05	3.857e-05	0.0002	0.0025	6.006e-05	4.88e-05	0.0014	0.0011	2.409e-05	0	6.539e-05	0	0.0002	0	0	0	0	0.0025	0.003	0.68238	D	0.003	0.76473	D	0.968	0.56581	D	0.231	0.38266	B	0.000774	0.41888	D	0.249502	0.779774	0.29346	N	0.69	0.16971	N	0.85	0.47130	T	-3.56	0.68880	D	0.306	0.34552	-1.0101	0.26886	T	0.057	0.23828	T	10	0.0041200817	0.00081	T	0.025654	0.48617	D	0.204	0.49076	0.24	0.17218	0.181679512989	0.17746	0.3118646853746904	0.31099	0.470711865977	0.46342	0.406107842922	0.25918	T	0.26054	0.63193	T	-0.408554	0.02032	T	-0.359095	0.38158	T	0.180646179985457	0.19275	T	0.936306	0.76101	D	0.24831402	0.47817	0.1578826	0.36896	0.24831402	0.47816	0.1578826	0.36895	-5.957	0.45918	T	.	.	0.144	0.31658	B	.	.	3.403605	0.47185	22.4	0.99675459299329461	0.78912	0.84661	0.43746	D	AEFGBCI	0.638696	0.61702	D	-0.126984821122645	0.36219	2.090682	-0.0596700257803176	0.37075	2.165929	0.999999970897591	0.74766	0.615465	0.37627	0	0.587068	0.34093	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.96	3.19	0.35720	4.631000	0.61002	7.362000	0.58351	-0.153000	0.12021	1.000000	0.71638	0.999000	0.35428	0.233000	0.22815	0.0668:0.121:0.5413:0.2709	5.523	0.16230	937	0.14592	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	919.98	37	chr5	97094954	.	G	A	919.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.147;DP=777;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=-3.900e-02;SOR=0.712	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr5	98793431	98793431	C	T	exonic	RGMB	.	nonsynonymous SNV	RGMB:NM_001366508:exon3:c.C992T:p.A331V	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.822	P	0.414	B	0.000	D	0.994	D	1.79	L	-1.94	D	0.068	D	0.523	D	0.064	4.404	23.3	5.62	2.635	2.101	10.721	0.362	0.185755302479	.	0.000199681	0.0005	0	0	0	0	0	0.0013	0.0036	0.0003881	60	154602	rs560715184	0.0002	0.0002	0.0001	0.0003	0.0037	0.0002	0.0002	0.0033	0.0032	0	0	0	0	0	0	9e-07	0.0002	0.0037	9.845e-05	9.841e-05	2.569e-05	0.0002	0.0031	6e-05	4.874e-05	0.0019	0.0015	0	0	0	0	0	0	0	0	0	0.0031	0.075	0.34444	T	0.233	0.24913	T	0.822	0.45767	P	0.414	0.44907	B	0.000169	0.48594	D	0.182358	0.994304	0.42233	D	1.525	0.38595	L	-1.94	0.84919	D	-1.23	0.31170	N	0.137	0.31253	0.068	0.83589	D	0.523	0.82202	D	10	0.011619806	0.00253	T	0.185755	0.85832	D	0.362	0.68230	0.742	0.87401	0.844795248951	0.84331	0.19362992983410063	0.19280	0.605846916778	0.55455	0.473648816347	0.35183	T	0.420938	0.77249	T	-0.420691	0.01693	T	-0.378543	0.35892	T	0.0904507949826381	0.11272	T	0.817118	0.47377	T	0.0999818	0.23602	0.07937652	0.17865	0.0999818	0.23601	0.07937652	0.17865	-3.863	0.21749	T	.	.	0.153	0.33868	B	.;.	.;.	3.134155	0.42367	21.5	0.99919965878914352	0.98654	0.76000	0.37242	D	AEFDBCI	0.453297	0.50649	N	0.248688158794329	0.53574	3.52568	0.262643211792565	0.53370	3.506497	0.999999999914452	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	4.899000	0.62932	5.977000	0.52101	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.995000	0.73285	0.0:0.8839:0.0:0.1161	10.721	0.45236	897	0.25382	Repulsive guidance molecule, C-terminal;Repulsive guidance molecule, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2141.98	33	chr5	98793431	.	C	T	2141.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.220e-01;DP=853;ExcessHet=0.0000;FS=2.085;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.67;ReadPosRankSum=1.63;SOR=0.914	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1229	20	0	1	0
chr5	98869208	98869208	C	G	exonic	CHD1	.	nonsynonymous SNV	CHD1:NM_001364113:exon31:c.G4177C:p.E1393Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.54e-05	1.847e-05	1.575e-05	3.663e-05	0.0010	1.632e-05	1.385e-05	0.0007	0.0005	0	0	0	0	0	0	1.323e-06	0.0001	0.0010	2.633e-05	2.627e-05	0	5.39e-05	0.0008	8.15e-06	5.15e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	766.98	33	chr5	98869208	.	C	G	766.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.180e-01;DP=817;ExcessHet=0.0000;FS=3.114;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.09;ReadPosRankSum=1.49;SOR=1.112	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	20	0	1	0
chr5	98869828	98869828	T	C	exonic	CHD1	.	nonsynonymous SNV	CHD1:NM_001270:exon30:c.A4033G:p.I1345V	.	.	445	1063	11	3	0	17	0.0079328	.	.	699223	not_provided|Pilarowski-Bjornsson_syndrome	MedGen:C3661900|MONDO:MONDO:0060568,MedGen:C4540131,OMIM:617682,Orphanet:529965	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.31	T	0.0	B	0.0	B	0.754	N	0.998	N	-0.55	N	-2.47	D	-0.771	T	0.315	T	0.056	0.869	8.522	-0.126	0.085	0.144	5.477	0.173	.	0.0013	0.00259585	0.0024	0.0002	0.0006	0	0	0.0020	0	0.0088	0.0020569	318	154602	rs139215644	0.0018	0.0018	0.0016	0.0021	0.0108	0.0018	0.0017	0.0102	0.0100	0.0002	0.0009	0.0098	0	3.745e-05	0.0032	0.0012	0.0018	0.0108	0.0013	0.0013	0.0010	0.0015	0.0101	0.0011	0.0011	0.0079	0.0071	0.0002	0	0.0016	0.0095	0	9.42e-05	0.0034	0.0011	0.0014	0.0101	0.33	0.13131	T	0.399	0.15059	T	0.0	0.02946	B	0.0	0.01387	B	0.753602	0.09680	N	0.824068	0.997952	0.22426	N	-0.55	0.02420	N	-2.47	0.88997	D	0.4	0.03463	N	0.047	0.02964	-0.7709	0.56809	T	0.315	0.68504	T	10	0.0034848154	0.00062	T	.	.	.	0.173	0.43840	.	.	0.386522206555	0.38262	0.14373672833767392	0.14296	0.762688147093	0.64348	0.317008852959	0.12968	T	0.035593	0.23777	T	-0.493179	0.00624	T	-0.473232	0.25170	T	0.000143662760689481	0.00001	T	0.659134	0.26825	T	0.017642992	0.00290	0.023132065	0.00329	0.021451646	0.00748	0.025102632	0.00544	-2.895	0.09094	T	.	.	0.055	0.00368	B	.;.	.;.	0.397388	0.07687	4.361	0.71651714414901213	0.09702	0.23185	0.21993	N	AEFBI	0.030555	0.03097	N	-1.09885386932235	0.06665	0.3074543	-0.936048724437692	0.11248	0.5718483	0.539620066055636	0.21242	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.87	-0.126	0.12855	-0.129000	0.10493	-0.620000	0.08178	-0.685000	0.04181	0.112000	0.23030	0.052000	0.21854	0.962000	0.52141	0.1588:0.4786:0.0:0.3626	5.477	0.15994	905	0.23532	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	357.98	33	chr5	98869828	.	T	C	357.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.703;DP=750;ExcessHet=0.0000;FS=5.532;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.77;ReadPosRankSum=0.894;SOR=0.838	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1033	20	0	1	0
chr5	100535540	100535540	T	A	exonic	FAM174A	.	nonsynonymous SNV	FAM174A:NM_198507:exon1:c.T10A:p.S4T,	.	.	425	1082	13	2	0	17	0.00779459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.001	B	0.601	N	1.000	N	-0.69	N	0.92	T	-1.038	T	0.036	T	0.069	-0.887	0.464	-2.04	-0.305	-0.320	4.431	0.026	0.00311594362081	0.0005	0.000599042	0.0006	0	0.0004	0	0.0006	0.0009	0.0035	0.0003	0.0006015	93	154602	rs142597545	0.0007	0.0007	0.0006	0.0007	0.0101	0.0006	0.0006	0.0080	0.0072	0.0002	0.0006	0.0025	0	0.0004	0.0101	0.0006	0.0011	0.0004	0.0005	0.0005	0.0006	0.0005	0.0007	0.0004	0.0004	0.0006	0.0005	7.212e-05	0	0.0004	0.0035	0	0.0002	0.0136	0.0007	0.0005	0.0002	0.42	0.09836	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.601010	0.05646	N	1.292880	1	0.08975	N	-0.205	0.04094	N	0.92	0.44461	T	-0.27	0.11366	N	0.09	0.06854	-1.0377	0.18016	T	0.036	0.15422	T	9	0.005089313	0.00110	T	0.003116	0.06756	T	0.026	0.05648	.	.	0.0138822411134	0.00435	0.10503746368612639	0.10433	0.487470984321	0.47571	0.32639208436	0.14388	T	0.00366	0.03070	T	-0.634902	0.00089	T	-0.76403	0.02970	T	0.00977121171551003	0.00128	T	0.253875	0.03902	T	0.05200074	0.09635	0.05376458	0.09118	0.05200074	0.09635	0.05376458	0.09118	-4.382	0.29312	T	.	.	0.068	0.02670	B	.	.	0.368543	0.07412	4.037	0.78170854140537027	0.12185	0.01595	0.05182	N	ALL	0.042217	0.06523	N	-1.43783463054177	0.02314	0.1020376	-1.42553408480251	0.02999	0.1390578	0.99999999997571	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.4	-2.04	0.06937	-0.604000	0.05763	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.116000	0.19000	0.169:0.3228:0.0:0.5081	4.431	0.10954	792	0.45996	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	541.98	25	chr5	100535540	.	T	A	541.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.273;DP=653;ExcessHet=0.0000;FS=3.161;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.49;ReadPosRankSum=-2.140e+00;SOR=1.508	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,932	20	0	1	0
chr5	100856145	100856145	C	T	exonic	ST8SIA4	.	nonsynonymous SNV	ST8SIA4:NM_005668:exon4:c.G755A:p.R252Q,	.	.	.	.	.	.	.	.	.	.	.	2355467	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.9	T	0.195	B	0.105	B	0.000	N	1.000	D	1.77	L	1.58	T	-1.095	T	0.065	T	0.379	3.545	18.08	4.45	1.466	5.864	13.282	0.152	0.0186066949194	.	.	1.648e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs781048508	2.258e-05	2.257e-05	2.042e-05	2.475e-05	0.0002	1.61e-05	1.416e-05	8.887e-05	7.054e-05	0	0	0	0	0	0	1.709e-05	1.656e-05	0.0002	1.972e-05	1.97e-05	2.57e-05	1.345e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.006	0.61437	D	0.151	0.32355	T	0.195	0.29512	B	0.105	0.31087	B	0.000103	0.50451	N	0.078508	0.999985	0.54805	D	0.885	0.21608	L	1.58	0.29085	T	-0.57	0.17210	N	0.301	0.34012	-1.0949	0.04766	T	0.065	0.26948	T	10	0.13723817	0.26107	T	0.018607	0.40730	T	0.152	0.39956	0.599	0.72984	0.082315109003	0.07666	0.9035250074962626	0.90325	0.594624967329	0.54773	0.689371645451	0.65616	T	0.128226	0.45575	T	-0.239793	0.15375	T	-0.379569	0.35774	T	0.197557049205132	0.20281	T	0.928807	0.73814	D	0.1444946	0.33165	0.10617818	0.25540	0.1444946	0.33165	0.10617818	0.25539	-4.676	0.33112	T	.	.	0.075	0.05623	B	.	.	3.162719	0.42862	21.6	0.99948285012871207	0.99923	0.96615	0.70031	D	AEFDGBIJ	0.805032	0.72973	D	-0.188802917842513	0.33600	1.908056	-0.0815197045877418	0.36153	2.100457	0.999999999988326	0.74766	0.706548	0.73137	0	0.819298	0.99779	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.32	4.45	0.53365	5.935000	0.69862	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.0:0.924:0.0:0.076	13.282	0.59655	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1739.98	34	chr5	100856145	.	C	T	1739.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.037e+00;DP=845;ExcessHet=0.0000;FS=1.313;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=-1.293e+00;SOR=0.553	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1194	20	0	1	0
chr5	102270770	102270770	G	A	exonic	SLCO4C1	.	nonsynonymous SNV	SLCO4C1:NM_180991:exon3:c.C656T:p.T219I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.038	B	0.103	B	0.114	N	1.000	N	1.31	L	1.09	T	-1.022	T	0.093	T	0.197	1.681	11.58	-1.11	0.028	-0.721	2.952	0.013	0.0115028280006	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175652348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.32e-05	1.315e-05	1.289e-05	1.352e-05	1.472e-05	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.472e-05	0.0005	0	0.142	0.25457	T	0.256	0.23298	T	0.038	0.21002	B	0.103	0.30945	B	0.114133	0.02666	N	1.718550	1	0.08975	N	1.27	0.32069	L	1.09	0.39223	T	-2.68	0.57275	D	0.157	0.16308	-1.0216	0.23195	T	0.093	0.35336	T	10	0.06457871	0.08585	T	0.011503	0.29187	T	0.013	0.01715	0.505	0.59924	0.104622674875	0.10061	0.2586394306084872	0.25777	0.0495080261756	0.05423	0.311373412609	0.12114	T	0.040704	0.25615	T	-0.240781	0.15248	T	-0.583642	0.14221	T	0.113470774417171	0.13780	T	0.229177	0.03066	T	0.07753631	0.17604	0.073808745	0.16079	0.07753631	0.17604	0.073808745	0.16078	-4.183	0.26505	T	.	.	0.078	0.06663	B	.	.	0.696501	0.10651	7.351	0.97305176174551633	0.33299	0.03945	0.09343	N	AEFBI	0.071942	0.14339	N	-1.05011044505534	0.07585	0.3528671	-1.09197903977378	0.07857	0.3839092	0.0203658458362758	0.13251	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.72	-1.11	0.09336	-0.445000	0.06918	-0.879000	0.07072	-0.667000	0.04321	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.1348:0.1105:0.3048:0.4499	2.952	0.05506	344	0.85734	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.0625	201.76	54	chr5	102270770	.	G	A	201.76	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-2.034e+00;DP=995;ExcessHet=0.1072;FS=80.571;InbreedingCoeff=-0.1310;MLEAC=2;MLEAF=0.063;MQ=60.00;MQRankSum=0.00;QD=2.00;ReadPosRankSum=0.689;SOR=5.339	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,16:47:99:0|1:102270769_T_C:141,0,879:102270769	14	0	2	5
chr5	102270771	102270771	T	C	exonic	SLCO4C1	.	nonsynonymous SNV	SLCO4C1:NM_180991:exon3:c.A655G:p.T219A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.001	B	0.008	B	0.114	N	1.000	N	0.905	L	1.2	T	-1.061	T	0.060	T	0.127	-0.368	2.265	0.664	-0.108	-0.762	4.822	0.035	0.00737551040094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.667e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.951	0.02141	T	0.765	0.04555	T	0.001	0.07471	B	0.008	0.13708	B	0.114133	0.02666	N	1.718550	1	0.08975	N	0.195	0.09149	N	1.2	0.37405	T	-0.41	0.14000	N	0.126	0.11912	-1.0613	0.11434	T	0.060	0.24981	T	10	0.033189237	0.01488	T	0.007376	0.19576	T	0.035	0.08770	0.398	0.42590	0.0954503805726	0.09146	0.173178965912641	0.17237	0.04234262313	0.04565	0.265042543411	0.05506	T	0.005402	0.04851	T	-0.294574	0.09181	T	-0.660912	0.08205	T	0.0230593997985125	0.01031	T	0.171083	0.01625	T	0.031705566	0.03059	0.026906235	0.00808	0.031705566	0.03059	0.026906235	0.00808	-3.985	0.23578	T	.	.	0.063	0.01512	B	.	.	-0.611083	0.01542	0.100	0.21569347130836103	0.00828	0.05116	0.10920	N	AEFBI	0.081174	0.16422	N	-1.05674882497369	0.07456	0.3464054	-1.03940957767455	0.08928	0.4414944	0.0182638168567323	0.13039	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.72	0.664	0.17060	-0.710000	0.05127	-0.485000	0.08896	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.065000	0.16320	0.1385:0.3532:0.0:0.5083	4.822	0.12759	344	0.85734	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05	68.89	58	chr5	102270771	.	T	C	68.89	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-1.570e+00;DP=963;ExcessHet=0.1072;FS=57.095;InbreedingCoeff=-0.0663;MLEAC=2;MLEAF=0.050;MQ=60.00;MQRankSum=0.00;QD=0.66;ReadPosRankSum=0.816;SOR=6.273	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:66:.:.:0,66,828	18	0	2	1
chr5	102296261	102296261	A	G	exonic	SLCO4C1	.	startloss	SLCO4C1:NM_180991:exon1:c.T2C:p.M1?,	.	.	416	1100	6	0	0	6	0.00271985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.967	D	0.879	P	0.249	N	1.000	D	.	.	1.06	T	-0.710	T	0.212	T	0.828	3.510	17.93	4.11	1.701	2.381	10.568	0.341	0.80485323273	0.0002	0.000798722	0.0004	0.0003	0.0003	0	0.0003	0.0005	0	0.0009	0.0004075	63	154602	rs149431208	0.0004	0.0004	0.0003	0.0004	0.0017	0.0003	0.0003	0.0010	0.0009	0.0003	0.0013	0	0	7.984e-05	0.0017	0.0003	0.0005	0.0012	0.0007	0.0007	0.0007	0.0007	0.0025	0.0006	0.0005	0.0019	0.0017	0.0004	0	0.0025	0	0	0	0	0.0005	0.0014	0.0017	0.0	0.91255	D	0.0	0.92824	D	0.967	0.56408	D	0.879	0.62418	P	0.249390	0.15542	N	0.533866	1	0.81001	D	.	.	.	1.06	0.39781	T	-1.11	0.28703	N	0.87	0.86725	-0.7098	0.59962	T	0.212	0.57241	T	9	0.20700732	0.36981	T	0.804853	0.98475	D	0.341	0.66297	.	.	0.47185959272	0.46814	0.5860858899970318	0.58538	.	.	.	.	.	0.009818	0.08911	T	-0.153976	0.27691	T	-0.0293306	0.68412	D	0.0704894601013022	0.08720	T	0.9	0.65058	D	0.87036234	0.88889	0.6680938	0.80532	0.87036234	0.88891	0.6680938	0.80533	-7.817	0.59816	D	.	.	.	.	.	.	.	3.650522	0.51811	23.1	0.99126891118974414	0.53142	0.91716	0.54112	D	ALL	0.019483	0.00680	N	0.253907152600546	0.53832	3.550563	0.162573063154185	0.47811	3.005879	0.999999999999983	0.74766	0.652421	0.48094	0	0.552344	0.17405	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	4.11	4.11	0.47350	2.424000	0.44370	8.764000	0.78233	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.127000	0.19450	1.0:0.0:0.0:0.0	10.568	0.44375	347	0.85595	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	920.98	45	chr5	102296261	.	A	G	920.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.256;DP=896;ExcessHet=0.0000;FS=0.967;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.96;ReadPosRankSum=1.31;SOR=0.951	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr5	102498660	102498660	C	T	exonic	SLCO6A1	.	nonsynonymous SNV	SLCO6A1:NM_001289002:exon1:c.G185A:p.G62D	.	.	423	1090	9	0	0	9	0.00411147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.982	D	0.679	P	0.000	N	1.000	N	0.805	L	0.98	T	-1.002	T	0.093	T	0.156	2.205	13.33	-2.27	-0.552	-1.606	4.850	0.119	0.00473244710884	0.0002	0.000998403	0.0010	0	0.0002	0	0	5.994e-05	0	0.0070	0.0008215	127	154602	rs139540296	0.0005	0.0005	0.0003	0.0007	0.0073	0.0005	0.0004	0.0068	0.0066	2.987e-05	0.0001	0	7.557e-05	0	0.0012	4.317e-05	0.0003	0.0073	0.0002	0.0002	0.0001	0.0004	0.0058	0.0002	0.0002	0.0041	0.0036	2.404e-05	0	0.0001	0	0	0	0.0068	5.88e-05	0	0.0058	0.178	0.29158	T	0.334	0.26467	T	0.94	0.60036	P	0.403	0.53442	B	0.000007	0.00162	N	7.138780	1	0.08975	N	0.805	0.20218	L	0.97	0.44856	T	-2.4	0.56630	N	0.085	0.19459	-1.0017	0.29430	T	0.093	0.35471	T	10	0.004949361	0.00106	T	0.004732	0.11784	T	0.119	0.33137	.	.	0.226586394389	0.22295	0.269533062504825	0.26866	0.281082333658	0.30582	0.273463100195	0.06597	T	0.121128	0.44386	T	-0.621164	0.00108	T	-0.660751	0.08215	T	0.0913392641420458	0.11376	T	0.59564	0.22108	T	0.088346764	0.20607	0.09878061	0.23563	0.088346764	0.20606	0.09878061	0.23562	-4.459	0.30348	T	.	.	0.225	0.60090	B	.;.;.;.	.;.;.;.	-0.695142	0.01332	0.073	0.982774921477231	0.39823	0.01833	0.05688	N	AEFBHCI	0.025238	0.01695	N	-0.855745855062781	0.11910	0.5774244	-1.06440168268425	0.08410	0.4133661	2.34430011323553E-4	0.06095	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.38	-2.27	0.06458	-2.998000	0.00718	-6.480000	0.01387	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2442:0.3875:0.3683	4.850	0.12895	238	0.90711	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4000.11	33	chr5	102498660	.	C	T	4000.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.501;DP=991;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=0.250;SOR=0.695	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1213	19	0	2	0
chr5	103186407	103186407	G	A	exonic	PPIP5K2	.	nonsynonymous SNV	PPIP5K2:NM_001345871:exon26:c.G3083A:p.R1028H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.023	B	0.009	B	0.000	D	1.000	D	0.695	N	2.44	T	-1.088	T	0.037	T	0.698	3.768	19.13	5.81	2.747	9.545	20.079	0.269	0.0133089949265	.	.	1.649e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs781956657	8.21e-06	8.209e-06	6.807e-06	9.627e-06	0.0001	4.38e-06	3.46e-06	5.805e-05	3.952e-05	0	0.0001	0	0	0	0	2.698e-06	0	3.478e-05	1.315e-05	1.314e-05	1.285e-05	1.346e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.166	0.23183	T	0.12	0.37589	T	0.023	0.18885	B	0.008	0.14300	B	0.000003	0.62929	D	0.000000	0.999999	0.58761	D	.	.	.	2.44	0.15145	T	-0.75	0.21003	N	0.787	0.80964	-1.0878	0.05908	T	0.037	0.15943	T	10	0.3775167	0.53944	T	0.013309	0.32613	T	0.269	0.58381	0.324	0.30549	0.344483371355	0.34058	0.554096052359456	0.55336	0.142195288803	0.16031	0.830634534359	0.86659	D	0.012596	0.15378	T	-0.17098	0.25086	T	-0.214077	0.53304	T	0.238103946650459	0.22331	T	0.953205	0.82144	D	0.105955675	0.25054	0.09406278	0.22247	0.105955675	0.25054	0.09406278	0.22247	-4.1	0.26534	T	.	.	0.241	0.64233	B	.;.;.;.;.	.;.;.;.;.	5.149688	0.86250	28.8	0.99890188142266056	0.96436	0.99758	0.99249	D	AEFBI	0.890208	0.82502	D	0.15415985244287	0.49010	3.106213	0.383370518783999	0.60540	4.242609	0.999999999998034	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.81	5.81	0.92413	9.592000	0.97408	11.825000	0.97352	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.079	0.97766	966	0.07191	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1877.98	33	chr5	103186407	.	G	A	1877.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=810;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.79;ReadPosRankSum=-1.064e+00;SOR=0.702	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1229	20	0	1	0
chr5	103190857	103190857	C	T	exonic	PPIP5K2	.	nonsynonymous SNV	PPIP5K2:NM_001345875:exon26:c.C3011T:p.S1004F	.	.	447	1071	3	1	0	5	0.00232883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.533	P	0.276	B	0.000	D	1.000	D	1.965	M	2.34	T	-1.039	T	0.109	T	0.946	3.672	18.66	5.85	2.753	7.021	20.165	0.347	0.0402384967723	.	.	8.338e-06	0	0	0	0	1.512e-05	0	0	6.5e-06	1	154602	rs781942250	2.773e-06	6.84e-06	2.757e-06	2.788e-06	0.0005	6.5e-07	4.4e-07	0.0001	7.649e-05	0	0	0	0	0	0.0005	0	1.681e-05	0	6.594e-06	6.571e-06	0	1.351e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.075	0.78490	T	0.083	0.64786	T	0.48	0.37766	P	0.276	0.40142	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	.	.	.	2.34	0.28189	T	-2.42	0.75776	N	0.92	0.93370	-1.0393	0.17526	T	0.109	0.39486	T	10	0.46723157	0.59645	T	0.040238	0.59263	D	0.347	0.66863	0.415	0.45380	0.490976584422	0.48732	0.6687709266361084	0.66815	0.15123232868	0.17072	0.825910449028	0.85936	D	0.201714	0.55968	T	0.259077	0.79441	D	0.134369	0.79175	D	0.904324591159821	0.55776	D	0.976302	0.91743	D	0.41220927	0.61569	0.4534818	0.68216	0.41220927	0.61570	0.4534818	0.68216	-6.606	0.51099	T	.	.	0.985	0.93326	P	.;.;.;.;.;.	.;.;.;.;.;.	4.612422	0.73162	25.9	0.99307447716392538	0.58869	0.98014	0.78880	D	AEFBI	0.815798	0.73769	D	0.451069219463621	0.64264	4.677032	0.563991515497895	0.72378	5.800163	0.999999999579552	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.85	5.85	0.93663	7.081000	0.76522	7.649000	0.63599	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.165	0.98148	958	0.09170	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1153.98	39	chr5	103190857	.	C	T	1153.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.792;DP=809;ExcessHet=0.0000;FS=1.582;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=-5.930e-01;SOR=0.868	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1271	20	0	1	0
chr5	108380904	108380904	G	C	exonic	FBXL17	.	nonsynonymous SNV	FBXL17:NM_001163315:exon1:c.C788G:p.S263C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.39	B	0.112	B	.	.	1.000	N	0	N	2.8	T	-1.060	T	0.014	T	0.07	1.403	10.63	2.41	1.672	3.996	8.017	0.100	0.401141615847	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978871791	0.0001	0.0001	0.0001	0.0001	0.0027	0.0001	0.0001	0.0022	0.0020	0.0027	0.0007	0	0	0	0.0019	5.464e-05	0.0006	5.145e-05	0.0006	0.0006	0.0005	0.0006	0.0016	0.0005	0.0004	0.0013	0.0012	0.0016	0	0.0006	0	0	0	0.0068	5.897e-05	0.0019	0	0.001	0.78490	D	0.095	0.55759	T	0.39	0.34593	B	0.112	0.31615	B	.	.	.	.	1	0.81001	D	0.695	0.17993	N	2.8	0.11082	T	-1.72	0.40850	N	0.182	0.19728	-1.0603	0.11681	T	0.014	0.05753	T	9	0.07984927	0.12892	T	0.401142	0.93400	D	0.100	0.28662	0.257	0.19845	0.043077524339	0.03247	0.3239771089051689	0.32310	0.63478802556	0.57320	0.855538606644	0.90447	D	0.011134	0.09975	T	-0.56716	0.00230	T	-0.617542	0.11379	T	0.239235722814744	0.22384	T	0.593841	0.21938	T	0.15487665	0.35032	0.21301949	0.45795	0.15487665	0.35031	0.21301949	0.45794	-4.768	0.34216	T	.	.	0.080	0.07889	B	.;.	.;.	3.783979	0.54419	23.5	0.95948751370279073	0.28264	0.52749	0.29206	D	ALL	0.187014	0.31431	N	-0.32568202561827	0.28175	1.551926	-0.268059992687666	0.29158	1.631321	0.999999996459569	0.74766	0.652421	0.48094	0	0.484254	0.07192	0	0.64067	0.45733	0	0.581474	0.35302	0	.	.	3.32	2.41	0.28644	5.920000	0.69743	8.708000	0.78127	0.509000	0.23192	0.997000	0.40164	1.000000	0.68203	0.930000	0.46718	0.1263:0.0:0.8737:0.0	8.017	0.29546	873	0.30802	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	613.98	28	chr5	108380904	.	G	C	613.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.221e+00;DP=734;ExcessHet=0.0000;FS=5.282;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.98;ReadPosRankSum=-1.562e+00;SOR=0.167	GT:AD:DP:GQ:PL	0/0:40,0:40:93:0,93,1395	20	0	1	0
chr5	109378481	109378481	G	A	exonic	PJA2	.	nonsynonymous SNV	PJA2:NM_014819:exon4:c.C1006T:p.H336Y,	.	.	433	1082	6	1	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.979	D	0.592	P	0.003	N	0.612	N	1.61	L	3.45	T	-1.123	T	0.024	T	0.415	3.504	17.91	4.68	2.793	2.135	7.889	0.098	0.00552959991739	7.7e-05	0.000399361	0.0001	9.619e-05	0	0	0	0.0002	0	0.0002	0.0001294	20	154602	rs375102754	0.0001	0.0001	7.895e-05	0.0001	0.0017	9.091e-05	8.598e-05	0.0009	0.0007	8.961e-05	6.708e-05	0	0	0.0001	0.0017	9.353e-05	0.0003	5.797e-05	0.0001	0.0002	0.0001	0.0002	0.0008	9.74e-05	8.255e-05	0.0003	0.0002	2.407e-05	0	0.0003	0	0	0	0.0068	0.0001	0	0.0008	0.023	0.48186	D	0.019	0.59159	D	0.979	0.59044	D	0.592	0.50503	P	0.002983	0.35606	N	0.251039	0.61184	0.30854	N	2.2	0.62015	M	3.45	0.05311	T	-1.42	0.34992	N	0.236	0.26957	-1.1229	0.02156	T	0.024	0.10194	T	10	0.057655722	0.06656	T	0.00553	0.14258	T	0.098	0.28162	.	.	0.327419511103	0.32360	0.10284054301612591	0.10214	0.0453608421685	0.04917	0.565266728401	0.48010	T	0.042011	0.26046	T	-0.321178	0.06801	T	-0.429826	0.29954	T	0.0929087474942207	0.11559	T	0.806819	0.45619	T	0.077267714	0.17527	0.108440734	0.26123	0.077267714	0.17527	0.108440734	0.26122	-3.969	0.23338	T	.	.	0.122	0.25495	B	.;.	.;.	4.345274	0.66695	25.0	0.9976064739840399	0.85011	0.93306	0.57865	D	AEFGBI	0.318392	0.42211	N	0.505682274259388	0.67425	5.079942	0.536418007049619	0.70459	5.50823	0.99621926075992	0.34598	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.61	4.68	0.58319	2.369000	0.43884	8.256000	0.76869	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.2849:0.4762:0.2388	7.889	0.28832	943	0.12886	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2312.98	93	chr5	109378481	.	G	A	2312.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.035e+00;DP=1943;ExcessHet=0.0000;FS=5.199;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=0.091;SOR=0.842	GT:AD:DP:GQ:PL	0/0:113,0:113:99:0,120,1800	20	0	1	0
chr5	109817344	109817344	C	T	exonic	MAN2A1	.	nonsynonymous SNV	MAN2A1:NM_002372:exon13:c.C2015T:p.T672I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.054	B	0.158	B	0.264	N	1.000	N	1.995	M	-1.2	T	-0.751	T	0.312	T	0.181	1.090	9.450	-4.49	-0.548	-0.771	7.663	0.215	0.036237113627	7.7e-05	.	1.647e-05	0	0	0.0001	0	1.498e-05	0	0	1.29e-05	2	154602	rs368517284	3.42e-06	3.42e-06	1.361e-06	5.5e-06	0.0003	1e-06	7.3e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387	0.10945	T	0.389	0.15554	T	0.054	0.22658	B	0.158	0.34617	B	0.264304	0.15252	N	0.673899	1	0.08975	N	2.19	0.61577	M	-1.2	0.78537	T	-1.98	0.45769	N	0.242	0.27316	-0.7513	0.57867	T	0.312	0.68264	T	10	0.094646096	0.16845	T	0.036237	0.56862	D	0.215	0.50805	.	.	0.430239905395	0.42638	0.20710060426472962	0.20626	0.152093685501	0.17161	0.283849716187	0.08035	T	0.431193	0.77940	T	-0.301623	0.08507	T	-0.406608	0.32617	T	0.0694270460101089	0.08570	T	0.582642	0.21138	T	0.025919793	0.01585	0.029899042	0.01381	0.025919793	0.01584	0.029899042	0.01381	-6.194	0.47874	T	.	.	0.130	0.27762	B	.	.	0.799827	0.11705	8.284	0.64981534647699946	0.07644	0.02424	0.06845	N	AEFBI	0.031769	0.03460	N	-1.30778881799642	0.03585	0.1604207	-1.42195987507989	0.03033	0.1407236	0.364567354037591	0.19810	0.732398	0.92422	0	0.653731	0.59785	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.24	-4.49	0.03257	-0.646000	0.05501	-2.446000	0.03744	-0.932000	0.02141	0.000000	0.06391	0.000000	0.08366	0.278000	0.23967	0.666:0.1402:0.1236:0.0702	7.663	0.27580	747	0.52260	Glycosyl hydrolase family 38, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1413.98	38	chr5	109817344	.	C	T	1413.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.786e+00;DP=817;ExcessHet=0.0000;FS=2.362;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=1.95;SOR=0.495	GT:AD:DP:GQ:PL	0/1:52,66:118:99:1428,0,1221	20	0	1	0
chr5	110605337	110605337	C	T	exonic	TMEM232	.	nonsynonymous SNV	TMEM232:NM_001039763:exon10:c.G1048A:p.D350N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	B	0.063	B	0.428	N	1.000	N	0.885	L	.	.	-1.030	T	0.060	T	0.051	2.837	15.45	-0.71	-0.407	0.088	4.671	0.078	0.0136822022945	.	0.000798722	0.0014	0	0	0	0	0	0.0081	0.0037	0.0002264	35	154602	rs575969740	0.0002	0.0002	8.354e-05	0.0003	0.0029	0.0002	0.0001	0.0026	0.0025	3.202e-05	0	0	0	0	0	1.86e-06	0.0002	0.0029	7.223e-05	7.218e-05	7.709e-05	6.716e-05	0.0023	3.969e-05	3.126e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.195	0.20759	T	0.211	0.26631	T	0.117	0.26519	B	0.063	0.27082	B	0.428270	0.12781	N	0.725667	1	0.08975	N	1.56	0.39490	L	.	.	.	-2.34	0.51811	N	0.121	0.11197	-1.0302	0.20390	T	0.060	0.24981	T	8	0.0041718185	0.00083	T	0.013682	0.33266	T	0.078	0.22779	0.292	0.25400	0.0401082797425	0.02173	0.05268344718627883	0.05210	.	.	0.324251592159	0.14065	T	0.004167	0.03581	T	-0.633139	0.00091	T	-0.684342	0.06722	T	0.019827018876629	0.00684	T	0.591441	0.21800	T	0.067428336	0.14600	0.063693665	0.12654	0.067428336	0.14600	0.063693665	0.12653	-3.752	0.20089	T	.	.	0.101	0.17445	B	.	.	1.453416	0.18750	13.90	0.98175669940237253	0.38899	0.02706	0.07356	N	AEFI	0.058748	0.11043	N	-0.853324405657567	0.11968	0.5806203	-0.86394039162877	0.12953	0.6692764	1.30672530232399E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.21	-0.71	0.10668	-0.003000	0.12836	0.755000	0.21268	0.587000	0.30956	0.000000	0.06391	0.016000	0.20520	0.911000	0.44643	0.2322:0.5465:0.0:0.2213	4.671	0.12075	885	0.28214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	233.98	33	chr5	110605337	.	C	T	233.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.730e-01;DP=710;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.88;ReadPosRankSum=0.203;SOR=0.752	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1267	20	0	1	0
chr5	110739163	110739163	G	A	exonic	SLC25A46	.	nonsynonymous SNV	SLC25A46:NM_001303249:exon1:c.G44A:p.R15Q	Neuropathy, hereditary motor and sensory, type VIB, Autosomal recessive	YES	431	1088	3	0	0	3	0.00137678	.	.	520552	not_provided|Inborn_genetic_diseases|Neuropathy,_hereditary_motor_and_sensory,_type_6B	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014671,MedGen:C4225302,OMIM:616505	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.997	D	0.703	P	0.000	D	1.000	D	1.95	M	-2.07	D	0.385	D	0.655	D	0.529	4.449	23.7	3.97	1.197	6.384	12.95	0.512	0.669024271648	0.0002	.	0.0001	0	0	0	0	0.0002	0	0.0001	2.59e-05	4	154602	rs372382932	4.006e-05	3.899e-05	3.389e-05	4.641e-05	0.0002	3.164e-05	2.844e-05	3.445e-05	3.046e-05	0	0	0	0	0	0.0002	4.449e-05	1.726e-05	7.574e-05	3.941e-05	3.94e-05	5.137e-05	2.689e-05	0.0003	1.715e-05	1.129e-05	8.873e-05	5.283e-05	2.412e-05	0	0.0003	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.703	0.54270	P	0.000054	0.53742	D	0.121669	0.999375	0.81001	D	2.32	0.66415	M	-2.07	0.86722	D	-0.95	0.25332	N	0.544	0.57433	0.385	0.88875	D	0.655	0.88012	D	10	0.65353465	0.69741	D	0.669024	0.97235	D	0.512	0.79094	.	.	0.74894119478	0.74667	0.6153829533266867	0.61470	0.0759007958584	0.08520	0.865649163723	0.91941	D	0.020416	0.16081	T	0.0210351	0.54521	T	-0.0210237	0.68961	D	0.649829745292664	0.38455	D	0.871313	0.57716	D	0.53494847	0.69112	0.6057321	0.77080	0.53494847	0.69113	0.6057321	0.77081	-4.307	0.28274	T	.	.	0.432	0.61306	A	.;.	.;.	4.524098	0.70963	25.6	0.99885608978975193	0.96049	0.81999	0.41297	D	ALL	0.674978	0.64052	D	0.530777707798563	0.68919	5.28398	0.501537179087623	0.68096	5.172866	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.88	3.97	0.45241	6.260000	0.72463	7.115000	0.57578	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:0.8367:0.1633	12.95	0.57792	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	861.98	38	chr5	110739163	.	G	A	861.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.470;DP=725;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.61;ReadPosRankSum=-1.710e-01;SOR=0.833	GT:AD:DP:GQ:PL	0/0:29,0:29:84:0,84,843	20	0	1	0
chr5	111106140	111106140	G	A	exonic	WDR36	.	nonsynonymous SNV	WDR36:NM_139281:exon11:c.G1177A:p.A393T,	Glaucoma 1, open angle, G	.	3	1469	49	1	0	51	0.0170626	.	.	16621	not_provided|Glaucoma_1,_open_angle,_G|Usher_syndrome_type_2C|WDR36-related_disorder	MedGen:C3661900|MedGen:C1835933,OMIM:609887|MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472,Orphanet:231178,Orphanet:886|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.717	P	0.162	B	0.000	D	0.996	A	1.245	L	0.31	T	-0.532	T	0.134	T	0.793	3.677	18.69	4.81	2.698	2.176	11.193	0.257	.	0.0035	0.0103834	0.0085	0.0009	0.0024	0	0.0008	0.0049	0.0077	0.0396	0.0077877	1204	154602	rs35703638	0.0063	0.0063	0.0052	0.0074	0.0396	0.0062	0.0061	0.0384	0.0380	0.0009	0.0021	0.0185	2.529e-05	0.0010	0.0190	0.0041	0.0072	0.0396	0.0046	0.0046	0.0040	0.0052	0.0421	0.0043	0.0042	0.0374	0.0355	0.0007	0	0.0040	0.0191	0.0004	0.0008	0.0068	0.0045	0.0071	0.0421	.	.	.	0.172	0.31427	T	0.717	0.42239	P	0.162	0.34839	B	0.000000	0.84330	D	0.053679	0.981453	0.42740	A	1.065	0.27018	L	-0.22	0.66474	T	-1.01	0.26639	N	0.225	0.25253	-0.5319	0.67469	T	0.134	0.44700	T	9	0.0058906674	0.00132	T	.	.	.	0.257	0.56827	.	.	0.918932208345	0.91811	0.3555309418206018	0.35467	0.0296278266116	0.03046	0.437898874283	0.30291	T	0.111246	0.42658	T	-0.192804	0.21846	T	-0.0204496	0.68999	D	0.00514807261636098	0.00056	T	0.850115	0.53348	D	0.521217	0.68329	0.3595118	0.61409	0.5670011	0.70896	0.32784036	0.58677	-5.778	0.44382	T	0.15303880024046368	0.18173	0.116	0.26978	B	.;.;.	.;.;.	3.060918	0.41109	21.3	0.99769962277605184	0.85834	0.92968	0.56993	D	AEFBI	0.222266	0.34678	N	0.266451796840912	0.54457	3.611202	0.373573685898376	0.59941	4.176374	0.998851764279735	0.37823	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.73	4.81	0.61401	2.251000	0.42840	7.308000	0.58115	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.743:0.257	11.193	0.47921	893	0.26510	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	1807.11	39	chr5	111106140	.	G	A	1807.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.83;DP=880;ExcessHet=0.1072;FS=0.506;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.25;ReadPosRankSum=1.75;SOR=0.736	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1001	19	0	2	0
chr5	112184020	112184020	G	A	exonic	EPB41L4A	.	nonsynonymous SNV	EPB41L4A:NM_001347887:exon18:c.C1618T:p.R540C	.	.	442	1079	1	0	0	1	0.000463177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.175	M	-2.22	D	0.649	D	0.796	D	0.771	4.989	29.2	6.17	2.941	4.442	20.879	0.411	0.0401263078358	.	.	2.484e-05	0	0	0	0	2.997e-05	0	6.056e-05	1.94e-05	3	154602	rs774150056	1.231e-05	1.3e-05	1.225e-05	1.238e-05	2.319e-05	7.7e-06	6.35e-06	8.1e-06	6.42e-06	0	0	0	0	0	0	1.349e-05	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.959	0.70163	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.935	0.51832	L	-2.22	0.87038	D	-4.95	0.81910	D	0.601	0.61933	0.649	0.92536	D	0.796	0.93093	D	10	0.62351626	0.68112	D	0.040126	0.59201	D	0.411	0.72252	0.191	0.10171	0.979847671423	0.97962	0.6150014543589497	0.61432	0.308381427564	0.33150	0.772473275661	0.77795	T	0.11812	0.43870	T	0.192584	0.73203	D	0.135711	0.79265	D	0.995676934719086	0.87860	D	0.964704	0.86917	D	0.6407324	0.74870	0.6044237	0.77008	0.6407324	0.74871	0.6044237	0.77009	-9.468	0.70660	D	0.7285667969946116	0.81014	0.698	0.76906	P	.;.	.;.	5.979656	0.94247	34	0.99937808677461515	0.99698	0.93957	0.59684	D	AEFBI	0.773647	0.70759	D	0.817962293570951	0.87216	9.141878	0.819262695834885	0.91100	10.71837	0.999999999999897	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	6.17	6.17	0.99707	4.661000	0.61213	11.605000	0.93504	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	20.879	0.99870	316	0.87161	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1516.98	36	chr5	112184020	.	G	A	1516.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.474;DP=859;ExcessHet=0.0000;FS=2.344;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.86;ReadPosRankSum=-1.290e-01;SOR=0.503	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1318	20	0	1	0
chr5	112275362	112275362	G	A	exonic	EPB41L4A	.	nonsynonymous SNV	EPB41L4A:NM_001347887:exon4:c.C299T:p.A100V	.	.	695	820	5	2	0	9	0.00545785	.	.	2827931	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.21	T	1.0	D	0.999	D	0.000	D	0.988	D	0.81	L	-0.83	T	-0.310	T	0.364	T	0.725	4.961	28.9	5.56	2.771	4.531	18.656	0.478	0.0250864742028	0.0011	0.00139776	0.0022	0.0010	0.0015	0	0.0009	0.0037	0	0.0008	0.0014683	227	154602	rs144670970	0.0019	0.0022	0.0019	0.0019	0.0079	0.0018	0.0018	0.0060	0.0054	0.0002	0.0009	0.0002	0	0.0010	0.0079	0.0022	0.0016	0.0010	0.0021	0.0021	0.0023	0.0018	0.0031	0.0019	0.0018	0.0028	0.0026	0.0003	0.0362	0.0018	0.0003	0	0.0023	0.0068	0.0031	0.0009	0.0008	0.074	0.34621	T	0.056	0.46632	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.987813	0.40654	D	0.61	0.15665	N	-0.83	0.74159	T	-3.57	0.68999	D	0.338	0.38232	-0.3101	0.74702	T	0.364	0.72514	T	10	0.011416376	0.00250	T	0.025086	0.48071	D	0.478	0.76946	.	.	0.900031895272	0.89904	0.45657247820754454	0.45575	0.282234242663	0.30686	0.660553097725	0.61489	T	0.081206	0.36543	T	-0.191707	0.22007	T	-0.0471971	0.67214	D	0.0175599052220569	0.00490	T	0.940406	0.77539	D	0.50716364	0.67514	0.392993	0.64030	0.49522018	0.66814	0.4178281	0.65825	-6.386	0.49400	T	0.21446904140416545	0.28817	0.195	0.42215	B	.;.	.;.	4.690037	0.75145	26.3	0.99903945620762657	0.97502	0.91591	0.53849	D	AEFI	0.603322	0.59485	D	0.589885640484288	0.72544	5.822284	0.630072959443419	0.77132	6.621235	0.999995296497811	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.56	5.56	0.83678	5.035000	0.63949	9.947000	0.82700	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.656	0.91411	589	0.68969	FERM conserved site|FERM domain|Band 4.1 domain;FERM conserved site|FERM domain|Band 4.1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	360.98	33	chr5	112275362	.	G	A	360.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.290e-01;DP=709;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=-2.550e-01;SOR=0.631	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,981	20	0	1	0
chr5	112775733	112775733	A	G	exonic	APC	.	nonsynonymous SNV	APC:NM_001127511:exon4:c.A557G:p.E186G	Adenoma, periampullary, somatic (3);Adenomatous polyposis coli, Autosomal dominant;Brain tumor-polyposis syndrome 2, Autosomal dominant;Colorectal cancer, somatic;Desmoid disease, hereditary, Autosomal dominant;Gardner syndrome, Autosomal dominant;Gastric cancer, somatic;Hepatoblastoma, somatic	YES	31	1489	2	0	0	2	0.000671141	.	.	1408280	Familial_adenomatous_polyposis_1	MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.374	B	0.352	B	0.000	D	1.000	D	1.525	L	-3.02	D	0.525	D	0.729	D	0.905	3.884	19.74	5.3	1.992	6.777	15.251	0.740	0.150943881997	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.45039	D	0.237	0.35840	T	0.374	0.34192	B	0.352	0.42883	B	0.000000	0.84330	D	0.000000	0.999986	0.54805	D	1.385	0.34509	L	-3.02	0.92258	D	-3.52	0.68412	D	0.904	0.90476	0.525	0.90892	D	0.729	0.90719	D	10	0.6953932	0.72111	D	0.150944	0.83256	D	0.740	0.90982	0.328	0.31196	0.985861375872	0.98571	0.3421506880022589	0.34128	.	.	0.873024344444	0.92998	D	0.811365	0.95289	D	0.421797	0.91115	D	0.368106	0.91005	D	0.980249404907227	0.73256	D	0.865313	0.71304	D	0.23598197	0.46442	0.32212853	0.58155	0.23598197	0.46442	0.32212853	0.58154	-2.99	0.10073	T	.	.	0.464	0.62874	A	.;.;.;.	.;.;.;.	4.314041	0.65970	24.9	0.99808475275541675	0.89264	0.98159	0.80110	D	AEFGBI	0.718096	0.66940	D	0.288039189423002	0.55541	3.718202	0.3999960479718	0.61564	4.358365	0.99999999999748	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.3	5.3	0.74745	6.799000	0.74947	11.174000	0.88071	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.251	0.73241	678	0.60190	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	857.98	52	chr5	112775733	.	A	G	857.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.680e-01;DP=966;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.67;ReadPosRankSum=-1.130e-01;SOR=0.617	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	20	0	1	0
chr5	113340599	113340599	C	T	exonic	MCC	.	nonsynonymous SNV	MCC:NM_001085377:exon3:c.G547A:p.A183T,	Colorectal cancer, somatic	.	425	1090	7	0	0	7	0.00320073	.	.	734804	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.55	T	0.0	B	0.001	B	0.451	N	1.000	N	.	.	1.25	T	-1.006	T	0.033	T	0.034	-2.060	0.006	-0.075	-0.082	0.045	8.803	0.008	0.0033434493211	0.0017	0.000798722	0.0025	0.0007	0.0010	0	0.0023	0.0038	0	0.0006	0.0023286	360	154602	rs75148264	0.0027	0.0027	0.0028	0.0026	0.0064	0.0026	0.0026	0.0048	0.0042	0.0006	0.0017	0.0065	0	0.0020	0.0064	0.0030	0.0030	0.0007	0.0020	0.0020	0.0020	0.0019	0.0037	0.0018	0.0017	0.0030	0.0027	0.0008	0	0.0037	0.0063	0.0002	0.0011	0	0.0024	0.0038	0.0012	0.195	0.20759	T	0.06	0.45744	T	0.0	0.02946	B	0.001	0.04355	B	0.450843	0.12509	N	0.642545	1	0.08975	N	.	.	.	1.25	0.36512	T	-0.04	0.07590	N	0.312	0.35194	-1.0062	0.28095	T	0.033	0.13986	T	9	0.0044106245	0.00090	T	0.003343	0.07451	T	0.008	0.00669	.	.	0.0297737177859	0.01360	0.19501911047765577	0.19419	0.0765748949308	0.08593	0.273665159941	0.06624	T	.	.	.	-0.691105	0.00041	T	-0.768866	0.02805	T	0.00031697255326435	0.00003	T	0.40256	0.10281	T	.	.	.	.	.	.	.	.	-3.641	0.18452	T	.	.	0.073	0.04806	B	.	.	0.349032	0.07221	3.817	0.74195682189564149	0.10605	0.07314	0.13336	N	AEFDBCI	0.046672	0.07775	N	-1.31891526004582	0.03459	0.1545445	-1.35575469894214	0.03738	0.1749991	0.999839913408045	0.43792	0.65861	0.49226	0	0.59043	0.45803	0	0.725225	0.93170	0	0.75052	0.99595	0	.	.	4.2	-0.0748	0.13062	0.058000	0.14178	0.242000	0.16320	-0.842000	0.02783	0.017000	0.19353	0.039000	0.21534	0.302000	0.24547	0.0:0.6731:0.1118:0.2152	8.803	0.34077	921	0.19240	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	895.98	43	chr5	113340599	.	C	T	895.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.100e-02;DP=836;ExcessHet=0.0000;FS=2.771;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.74;ReadPosRankSum=1.76;SOR=0.792	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1289	20	0	1	0
chr5	113433771	113433771	G	A	exonic	TSSK1B	.	nonsynonymous SNV	TSSK1B:NM_032028:exon1:c.C1069T:p.P357S,	.	.	.	.	.	.	.	.	.	.	.	2462803	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.68	T	0.022	B	0.001	B	.	.	1.000	N	0	N	-0.23	T	-1.026	T	0.092	T	0.167	-0.248	2.804	-1.1	0.308	-0.765	3.126	0.032	0.00423191860068	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772486035	7.526e-06	7.524e-06	8.169e-06	6.877e-06	9.894e-06	4.04e-06	2.95e-06	5.31e-06	3.88e-06	0	0	0	0	0	0	9.894e-06	0	0	1.971e-05	1.97e-05	2.569e-05	1.345e-05	7.236e-05	5.24e-06	2.45e-06	1.919e-05	1.032e-05	7.236e-05	0	0	0	0	0	0	0	0	0	0.923	0.02292	T	0.931	0.02768	T	0.022	0.18677	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	-0.23	0.66652	T	-0.32	0.12283	N	0.094	0.07398	-1.0256	0.21886	T	0.092	0.35201	T	9	0.042033464	0.02914	T	0.004232	0.10216	T	0.032	0.07718	.	.	0.280987212366	0.27714	0.1211785895778112	0.12044	0.0956328157147	0.10801	0.267809540033	0.05857	T	0.039032	0.25050	T	-0.183133	0.23270	T	-0.500835	0.22262	T	0.022093815582054	0.00919	T	0.373463	0.08871	T	0.030867597	0.02824	0.056847908	0.10229	0.030867597	0.02823	0.056847908	0.10229	-3.374	0.14709	T	.	.	0.064	0.01577	B	.	.	0.314350	0.06893	3.430	0.7156871139503943	0.09673	0.00358	0.01837	N	AEFDBI	0.036793	0.04959	N	-1.36209777307949	0.03001	0.1333961	-1.43528107551217	0.02906	0.1345652	0.0244530317505186	0.13580	0.516011	0.20929	0	0.547309	0.14657	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	0.9	-1.1	0.09367	0.771000	0.26294	-0.232000	0.10668	0.526000	0.24426	0.024000	0.20007	0.000000	0.08366	0.088000	0.17685	0.0:0.0:0.5248:0.4751	3.126	0.06023	922	0.19044	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	684.98	34	chr5	113433771	.	G	A	684.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=746;ExcessHet=0.0000;FS=3.915;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=1.95;SOR=1.360	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1088	20	0	1	0
chr5	113488342	113488342	-	GCC	exonic	MCC	.	nonframeshift insertion	MCC:NM_001085377:exon1:c.72_73insGGC:p.S24_S25insG,	Colorectal cancer, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0051	0.0015	0.0020	0	0.0005	0.0020	0.0044	0.0021345	330	154602	rs775732898	0.0008	0.0011	0.0009	0.0008	0.0099	0.0008	0.0008	0.0089	0.0085	0.0099	0.0024	0.0002	9.69e-05	0.0001	0.0026	0.0006	0.0016	0.0006	0.0034	0.0034	0.0034	0.0034	0.0095	0.0032	0.0031	0.0087	0.0084	0.0095	0	0.0045	0	0.0006	9.529e-05	0.0103	0.0006	0.0043	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55421.17	118	chr5	113488342	.	T	C,TGCTGCTGCC,TGCC	55421.17	.	AC=27,7,1;AF=0.643,0.167,0.024;AN=42;BaseQRankSum=-1.446e+00;DP=2966;ExcessHet=2.5830;FS=1.369;InbreedingCoeff=-0.2000;MLEAC=27,7,1;MLEAF=0.643,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=21.98;ReadPosRankSum=-1.100e-02;SOR=0.803	GT:AD:DP:GQ:PL	1/1:0,137,0,0:137:99:3952,411,0,3952,411,3952,3952,411,3952,3952	0	7	7	0
chr5	113488351	113488351	-	GCCGCTGCC	exonic	MCC	.	nonframeshift insertion	MCC:NM_001085377:exon1:c.63_64insGGCAGCGGC:p.G21_S22insGSG,	Colorectal cancer, somatic	.	0	73	103	46	4	199	0.571848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3783	.	0.0057	0	0	0.0032	0	0.0008	0	0.0260	0.0009989	26	26028	rs531679771	0.0043	0.0048	0.0037	0.0049	0.0326	0.0042	0.0042	0.0314	0.0310	0.0004	0.0013	0.0091	0.0236	0.0006	0.0039	0.0021	0.0049	0.0326	0.0037	0.0038	0.0029	0.0045	0.0508	0.0035	0.0034	0.0456	0.0436	0.0008	0	0.0018	0.0098	0.0124	0.0004	0	0.0022	0.0048	0.0508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	37732.13	76	chr5	113488351	.	T	TGCC,TGCCGCTGCC	37732.13	.	AC=22,1;AF=0.524,0.024;AN=42;BaseQRankSum=0.319;DP=2449;ExcessHet=5.5923;FS=0.563;InbreedingCoeff=-0.2494;MLEAC=22,1;MLEAF=0.524,0.024;MQ=60.00;MQRankSum=0.00;QD=25.19;ReadPosRankSum=0.315;SOR=0.655	GT:AD:DP:GQ:PL	1/1:0,84,0:84:99:3561,251,0,3562,252,3564	3	5	12	0
chr5	115580599	115580599	T	C	exonic	TICAM2;TMED7-TICAM2	.	nonsynonymous SNV	TICAM2:NM_021649:exon2:c.A658G:p.T220A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.384	N	1.000	N	-1.65	N	2.09	T	-0.939	T	0.012	T	0.05	-0.284	2.643	-4.36	-0.676	-0.460	9.008	0.027	0.00595795783626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.81	0.03036	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.383856	0.04437	N	1.396550	1	0.08975	N	-1.59	0.00435	N	2.09	0.20122	T	0.68	0.02228	N	0.024	0.00445	-0.9394	0.42711	T	0.012	0.04558	T	10	0.017624646	0.00378	T	0.005958	0.15549	T	0.027	0.05988	0.226	0.15109	0.0297737177859	0.01360	0.044812832775326425	0.19928	0.0133040703141	0.01281	0.297955036163	0.10097	T	0.07029	0.33924	T	-0.387825	0.02778	T	-0.79486	0.02034	T	0.0150233978706084	0.00323	T	0.457954	0.13172	T	0.033627365	0.03618	0.037794814	0.03509	0.033627365	0.03617	0.037794814	0.03509	-3.24	0.12976	T	.	.	0.068	0.02861	B	.;.	.;.	0.067823	0.04772	1.388	0.27057352067857121	0.01325	0.00568	0.02578	N	AEFBI	0.026024	0.01882	N	-1.44889113419238	0.02226	0.09804379	-1.34056170397608	0.03918	0.1837691	0.999952877860144	0.48110	0.615465	0.37627	0	0.522029	0.08744	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.92	-4.36	0.03392	-0.445000	0.06918	0.071000	0.14262	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.985000	0.61073	0.1458:0.6303:0.0:0.2239	9.008	0.35286	810	0.42761	.;Toll/interleukin-1 receptor homology (TIR) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1450.98	36	chr5	115580599	.	T	C	1450.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=812;ExcessHet=0.0000;FS=2.489;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=-5.270e-01;SOR=0.479	GT:AD:DP:GQ:PL	0/1:53,57:110:99:1465,0,1332	20	0	1	0
chr5	115816369	115816369	C	G	exonic	CDO1	.	nonsynonymous SNV	CDO1:NM_001323565:exon1:c.G29C:p.R10P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.778	P	0.182	B	0.068	N	1.000	N	0.895	L	0.96	T	-1.069	T	0.062	T	0.732	2.114	13.02	3.51	0.730	1.141	8.133	0.171	0.0527396227111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.362e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.41915	D	0.105	0.38016	T	0.778	0.44187	P	0.182	0.35926	B	0.068336	0.21680	N	0.493499	1	0.08975	N	1.15	0.29295	L	0.96	0.42888	T	-1.12	0.28906	N	0.151	0.15469	-1.0693	0.09567	T	0.062	0.25923	T	10	0.23640722	0.40721	T	0.05274	0.65193	D	0.171	0.43483	0.534	0.64293	0.458013479912	0.45428	0.6741192108326923	0.67349	0.221222536411	0.24668	0.509595394135	0.40165	T	0.332818	0.70274	T	0.00880896	0.52862	T	-0.225123	0.52243	T	0.373414069414139	0.27929	T	0.875712	0.58780	D	0.76025295	0.81468	0.4822751	0.70022	0.76025295	0.81469	0.4822751	0.70023	-7.206	0.55524	T	.	.	0.244	0.47816	B	.	.	3.267475	0.44713	22.0	0.99072214309519713	0.51762	0.67174	0.33337	D	ALL	0.668428	0.63621	D	-0.216359737315322	0.32461	1.831001	-0.212750772306459	0.31076	1.755454	0.999999038920016	0.74766	0.72623	0.87236	0	0.596491	0.49125	0	0.594344	0.31042	0	0.56751	0.32155	0	.	.	5.3	3.51	0.39297	0.987000	0.29203	1.360000	0.25874	0.596000	0.33519	0.890000	0.31197	0.990000	0.31317	0.625000	0.32026	0.0:0.6875:0.0:0.3125	8.133	0.30200	692	0.58729	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1456.98	33	chr5	115816369	.	C	G	1456.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.38;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.01;ReadPosRankSum=-1.633e+00;SOR=0.684	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,982	20	0	1	0
chr5	115841518	115841518	G	T	exonic	ATG12	.	nonsynonymous SNV	ATG12:NM_001277783:exon1:c.C35A:p.P12H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.909	D	0.010	N	0.930	N	1.95	M	.	.	-0.937	T	0.175	T	0.26	2.953	15.84	3.14	2.261	2.642	6.939	0.077	0.00327444657065	.	0.000199681	1.649e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs535376486	6.162e-06	6.156e-06	1.362e-06	1.101e-05	0.0002	2.9e-06	2.1e-06	2.996e-05	2.038e-05	0	0	0	0	0	0.0002	0	3.315e-05	6.959e-05	6.568e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.01	0.78490	D	0.007	0.92824	D	0.999	0.77913	D	0.909	0.64565	D	0.010104	0.30062	N	0.283305	0.930141	0.27078	N	2.2	0.62015	M	.	.	.	-1.21	0.97728	N	0.504	0.64733	-0.9366	0.43149	T	0.175	0.51848	T	9	0.3036452	0.47894	T	0.003274	0.07237	T	0.077	0.22490	.	.	0.455996456696	0.45225	0.5460114773860473	0.54527	0.00754321573307	0.00664	0.468965858221	0.34537	T	0.028411	0.20589	T	-0.160631	0.26663	T	-0.286984	0.46085	T	0.927326679229736	0.59011	D	0.708829	0.31953	T	0.07609504	0.17187	0.09399296	0.22228	0.07609504	0.17187	0.09399296	0.22227	-5.995	0.46238	T	.	.	0.119	0.40937	B	.;.	.;.	2.390651	0.30700	18.52	0.99340462855102751	0.60170	0.33402	0.24819	N	ALL	0.130850	0.24956	N	0.107959331794254	0.46833	2.917769	-0.0789800356170883	0.36260	2.10796	0.999999999999739	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.02	3.14	0.35196	3.513000	0.53172	3.365000	0.37889	0.672000	0.70159	0.704000	0.28664	0.984000	0.30665	0.032000	0.13371	0.1214:0.0:0.8786:0.0	6.939	0.23662	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1414.98	36	chr5	115841518	.	G	T	1414.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.268e+00;DP=895;ExcessHet=0.0000;FS=1.523;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=0.562;SOR=0.870	GT:AD:DP:GQ:PL	0/1:48,64:112:99:1429,0,1086	20	0	1	0
chr5	116002837	116002837	A	C	exonic	LVRN	.	nonsynonymous SNV	LVRN:NM_173800:exon11:c.A1823C:p.D608A,	.	.	483	1037	2	0	0	2	0.000963391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.002	B	0.002	B	0.388	U	1.000	N	0.55	N	5.05	T	-0.954	T	0.016	T	0.174	1.349	10.43	0.14	-0.190	0.751	5.663	0.038	0.00537775338147	0.0033	0.000798722	0.0021	0.0013	0.0020	0	0.0005	0.0031	0.0025	0.0007	0.002128	329	154602	rs145746383	0.0038	0.0038	0.0039	0.0037	0.0047	0.0037	0.0037	0.0046	0.0045	0.0007	0.0021	0.0003	0	0.0002	0.0002	0.0047	0.0027	0.0005	0.0025	0.0025	0.0029	0.0021	0.0044	0.0023	0.0022	0.0040	0.0038	0.0011	0	0.0016	0	0	0.0003	0	0.0044	0.0024	0.0021	0.171	0.22746	T	0.196	0.27943	T	0.002	0.09854	B	0.002	0.06944	B	0.388072	0.04460	U	1.518970	1	0.08975	N	1.175	0.29870	L	5.05	0.01268	T	-0.97	0.25770	N	0.091	0.07125	-0.9535	0.40363	T	0.016	0.06569	T	10	0.00716275	0.00163	T	0.005378	0.13801	T	0.038	0.09825	.	.	0.234412748748	0.23057	0.40477576170139257	0.40393	0.0918831322255	0.10371	0.281590223312	0.07715	T	0.016027	0.13326	T	-0.602787	0.00140	T	-0.634913	0.10044	T	0.00373262784998787	0.00040	T	0.40026	0.10182	T	0.05342861	0.10108	0.05192177	0.08454	0.05342861	0.10107	0.05192177	0.08453	-3.772	0.20387	T	.	.	0.085	0.10304	B	.;.	.;.	2.112010	0.26880	17.27	0.94816341794817183	0.25582	0.60023	0.31078	D	AEFBI	0.096355	0.19453	N	-0.701484033031547	0.15980	0.8101576	-0.559594611364272	0.20551	1.107755	0.128820170268025	0.17048	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.92	0.14	0.14101	1.107000	0.30724	0.681000	0.20681	-0.070000	0.16343	0.993000	0.37899	0.008000	0.19753	0.967000	0.53440	0.5954:0.1313:0.2734:0.0	5.663	0.16957	903	0.23940	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1044.98	33	chr5	116002837	.	A	C	1044.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=-4.140e-01;SOR=0.619	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1092	20	0	1	0
chr5	116015368	116015368	-	ATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTC	exonic	LVRN	.	stopgain	LVRN:NM_173800:exon17:c.2567_2568insATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTC:p.Q857_T990delinsYIYIWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0003	0.0002	0.0004	0.0008	0.0003	0.0011	0.0022	3.84e-05	1	26028	rs760127445	0.0002	0.0007	0.0001	0.0004	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0003	0	0.0002	0.0003	0.0003	6.589e-06	0.0003	1.289e-05	0	1.476e-05	0	0	.	.	0	0	0	0	0	0	0	1.476e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	984.49	110	chr5	116015368	.	T	TATATATATATATATGGAAC,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTC,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTCTCACAGA	984.49	.	AC=1,1,2,1;AF=0.024,0.024,0.048,0.024;AN=42;BaseQRankSum=0.519;DP=1335;ExcessHet=1.1607;FS=35.459;InbreedingCoeff=-0.1351;MLEAC=1,1,2,1;MLEAF=0.024,0.024,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.10;ReadPosRankSum=-2.189e+00;SOR=4.917	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0,0,0:34:99:.:.:0,99,1312,99,1312,1312,99,1312,1312,1312,99,1312,1312,1312,1312	16	0	1	0
chr5	116015368	116015368	-	ATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG	exonic	LVRN	.	stopgain	LVRN:NM_173800:exon17:c.2567_2568insATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG:p.Q857Yfs*7,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0006	0.0003	0.0001	0.0003	0.0005	0	0.0021	3.84e-05	1	26028	rs760127445	0.0002	0.0006	0.0001	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	9.111e-05	0.0002	0.0001	0.0001	0.0006	0	0.0002	0.0002	0.0002	0.0001	0.0016	9.04e-05	0.0001	0.0002	7.612e-05	6.311e-05	0.0001	7.945e-05	4.827e-05	0	0	0	0.0002	0.0002	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	984.49	110	chr5	116015368	.	T	TATATATATATATATGGAAC,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTC,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTCTCACAGA	984.49	.	AC=1,1,2,1;AF=0.024,0.024,0.048,0.024;AN=42;BaseQRankSum=0.519;DP=1335;ExcessHet=1.1607;FS=35.459;InbreedingCoeff=-0.1351;MLEAC=1,1,2,1;MLEAF=0.024,0.024,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.10;ReadPosRankSum=-2.189e+00;SOR=4.917	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0,0,0:34:99:.:.:0,99,1312,99,1312,1312,99,1312,1312,1312,99,1312,1312,1312,1312	16	0	1	0
chr5	116015368	116015368	-	ATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTCTCACAGA	exonic	LVRN	.	stopgain	LVRN:NM_173800:exon17:c.2567_2568insATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTCTCACAGA:p.Q857Yfs*7,	.	.	435	1072	3	0	12	15	0.0013973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.857e-05	8.687e-05	1.94e-05	3.786e-05	0.0002	2.126e-05	1.913e-05	9.71e-06	7.73e-06	0	2.327e-05	0	0	0.0003	0.0002	1.552e-05	1.684e-05	3.656e-05	6.593e-06	0.0002	0	1.35e-05	1.475e-05	0	0	.	.	0	0	0	0	0	0	0	1.475e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	984.49	110	chr5	116015368	.	T	TATATATATATATATGGAAC,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTC,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTCTCACAGA	984.49	.	AC=1,1,2,1;AF=0.024,0.024,0.048,0.024;AN=42;BaseQRankSum=0.519;DP=1335;ExcessHet=1.1607;FS=35.459;InbreedingCoeff=-0.1351;MLEAC=1,1,2,1;MLEAF=0.024,0.024,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.10;ReadPosRankSum=-2.189e+00;SOR=4.917	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0,0,0:34:99:.:.:0,99,1312,99,1312,1312,99,1312,1312,1312,99,1312,1312,1312,1312	16	0	1	0
chr5	116015370	116015370	-	TCACAGATGCTGGCTA	exonic	LVRN	.	stopgain	LVRN:NM_173800:exon17:c.2569_2570insTCACAGATGCTGGCTA:p.Q857Lfs*6,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0001	9.94e-05	0	0	0.0002	0	0	3.84e-05	1	26028	rs749164698	4.499e-06	0.0004	4.446e-06	4.552e-06	1.409e-05	1.62e-06	1.06e-06	.	.	0	0	0	0	9.164e-05	0	0	1.798e-05	1.409e-05	7.727e-06	0.0006	1.498e-05	0	.	0	0	.	.	0	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	436.45	39	chr5	116015370	.	C	CTCACAGATGCTGGCTA,A	436.45	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=1.28;DP=1348;ExcessHet=0.3300;FS=41.519;InbreedingCoeff=-0.0783;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=1.65;ReadPosRankSum=-1.755e+00;SOR=3.595	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0:34:99:.:.:0,99,1312,99,1312,1312	18	0	2	0
chr5	119133212	119133212	A	C	exonic	DMXL1	.	nonsynonymous SNV	DMXL1:NM_001290321:exon11:c.A1396C:p.S466R	.	.	427	1067	28	0	0	28	0.012951	.	.	698741	DMXL1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.45	T	0.49	P	0.157	B	0.003	N	0.840	D	1.04	L	0.84	T	-1.023	T	0.054	T	0.385	0.476	6.583	4.18	2.034	0.313	5.926	0.085	.	0.0031	0.00798722	0.0066	0.0007	0.0017	0	0.0068	0.0061	0.0088	0.0189	0.0060866	941	154602	rs142000355	0.0046	0.0046	0.0042	0.0050	0.0187	0.0045	0.0045	0.0179	0.0176	0.0009	0.0025	0.0169	5.039e-05	0.0055	0.0094	0.0034	0.0061	0.0187	0.0039	0.0039	0.0037	0.0041	0.0193	0.0037	0.0035	0.0161	0.0149	0.0006	0.0033	0.0034	0.0164	0	0.0048	0.0034	0.0045	0.0047	0.0193	0.078	0.33923	T	0.204	0.27235	T	0.019	0.36941	B	0.02	0.34536	B	0.003207	0.35270	N	0.354726	0.839989	0.35051	D	1.965	0.53209	M	0.84	0.47477	T	-2.2	0.49519	N	0.405	0.58968	-1.0226	0.22866	T	0.054	0.22997	T	10	0.0034649074	0.00061	T	.	.	.	0.085	0.24743	0.211	0.12923	0.316918214084	0.31302	0.26826068777558765	0.26739	0.0836088970448	0.09429	0.356339156628	0.18851	T	0.066931	0.33072	T	-0.442592	0.01249	T	-0.393592	0.34132	T	0.0104915088462671	0.00145	T	0.808019	0.46271	T	0.07245605	0.16118	0.08032456	0.18162	0.07245605	0.16118	0.08032456	0.18161	-6.054	0.46728	T	.	.	0.201	0.47557	B	.;.;.	.;.;.	2.234974	0.28534	17.83	0.95959325265076945	0.28295	0.43055	0.27014	N	AEFGBI	0.178236	0.30549	N	-0.44553844061359	0.23892	1.286213	-0.369960080323475	0.25897	1.42706	0.0185162500457033	0.13067	0.732398	0.92422	0	0.724815	0.89359	0	0.696353	0.63694	0	0.727631	0.95156	0	.	.	5.32	4.18	0.48473	0.514000	0.22492	2.835000	0.35045	0.691000	0.84096	0.632000	0.28016	1.000000	0.68203	0.100000	0.18284	0.7225:0.166:0.1115:0.0	5.926	0.18350	885	0.28214	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3372.11	33	chr5	119133212	.	A	C	3372.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.613e+00;DP=938;ExcessHet=0.1072;FS=0.434;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=0.223;SOR=0.639	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1268	19	0	2	0
chr5	119133866	119133866	G	A	exonic	DMXL1	.	nonsynonymous SNV	DMXL1:NM_001290321:exon12:c.G1942A:p.V648I	.	.	428	1085	9	0	0	9	0.00413034	.	.	3205815	DMXL1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.566	P	0.133	B	0.000	D	0.998	D	1.85	L	5.03	T	-1.093	T	0.030	T	0.21	2.080	12.91	4.55	1.284	3.255	15.482	0.130	.	0.0011	0.00359425	0.0020	0.0003	0.0007	0	0	0.0011	0	0.0093	0.0018758	290	154602	rs139365266	0.0015	0.0015	0.0013	0.0018	0.0090	0.0015	0.0015	0.0085	0.0083	2.987e-05	0.0004	7.653e-05	0	3.747e-05	0.0050	0.0012	0.0015	0.0090	0.0012	0.0012	0.0010	0.0014	0.0110	0.0011	0.0010	0.0086	0.0078	9.634e-05	0	0.0004	0	0.0004	0	0	0.0017	0.0014	0.0110	0.053	0.38863	T	.	.	.	0.566	0.38464	P	0.133	0.33073	B	0.000002	0.62929	D	0.058133	0.997502	0.43943	D	2.585	0.75554	M	2.8	0.11082	T	-0.82	0.22508	N	0.4	0.44090	-1.0934	0.04989	T	0.030	0.12935	T	9	0.0071781278	0.00163	T	.	.	.	0.130	0.35528	.	.	0.225033846419	0.22103	0.2177651963158737	0.21692	0.0511073577928	0.05625	0.528367519379	0.42804	T	0.036034	0.26392	T	-0.529071	0.00389	T	-0.526494	0.19639	T	0.0198272694830929	0.00684	T	0.976102	0.91674	D	0.10978227	0.25953	0.10179884	0.24379	0.10978227	0.25953	0.10179884	0.24379	-7.554	0.57989	D	.	.	0.088	0.12037	B	.;.	.;.	3.867414	0.56123	23.7	0.97938108614613817	0.37006	0.92983	0.57030	D	AEFBI	0.291882	0.40290	N	-0.112373316446154	0.36853	2.135912	-0.000826354215022196	0.39680	2.356308	0.061060813687412	0.15218	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.43	4.55	0.55429	3.341000	0.51869	11.798000	0.96570	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:0.8602:0.1398	15.482	0.75269	885	0.28214	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3003.98	33	chr5	119133866	.	G	A	3003.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.600e-02;DP=883;ExcessHet=0.0000;FS=1.826;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.06;ReadPosRankSum=-4.610e-01;SOR=0.565	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1268	20	0	1	0
chr5	119134101	119134101	C	T	exonic	DMXL1	.	nonsynonymous SNV	DMXL1:NM_001290321:exon12:c.C2177T:p.A726V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.000	D	1.000	D	2.525	M	0.94	T	-0.509	T	0.301	T	0.847	4.804	27.1	5.54	2.603	7.484	19.467	0.500	0.14605528956	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1312697686	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.065	0.87014	M	0.94	0.43672	T	-3.78	0.71519	D	0.89	0.90251	-0.5095	0.68305	T	0.301	0.67176	T	9	0.77610016	0.77471	D	0.146055	0.82820	D	0.500	0.78350	0.357	0.35897	0.379559396232	0.37572	0.8436559584663397	0.84326	0.363131982536	0.37948	0.868579685688	0.92364	D	0.272763	0.76941	T	0.216773	0.75470	D	0.0736025	0.75151	D	0.996248662471771	0.88951	D	0.988501	0.96026	D	0.8040572	0.84165	0.68002355	0.81200	0.8040572	0.84167	0.68002355	0.81201	-8.713	0.65830	D	.	.	0.934	0.85795	P	.;.	.;.	4.738853	0.76397	26.5	0.99919780542108916	0.98654	0.98302	0.81423	D	AEFBI	0.870749	0.79184	D	0.801052545216315	0.86171	8.800886	0.777876996050408	0.88216	9.499908	0.999999999224703	0.74766	0.651	0.46895	0	0.653731	0.59785	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.54	5.54	0.82907	7.565000	0.81337	7.651000	0.63703	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.467	0.94937	885	0.28214	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	35.98	33	chr5	119134101	.	C	T	35.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.285e+00;DP=1089;ExcessHet=0.0000;FS=202.042;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.33;ReadPosRankSum=1.26;SOR=7.903	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1268	20	0	1	0
chr5	119149603	119149603	C	T	exonic	DMXL1	.	nonsynonymous SNV	DMXL1:NM_001290321:exon18:c.C3776T:p.T1259I	.	.	424	1079	18	1	0	20	0.00918274	.	.	3208731	DMXL1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.14	T	0.102	B	0.048	B	0.012	N	0.839	D	0.755	N	2.92	T	-1.043	T	0.023	T	0.411	1.366	10.49	5.39	2.696	2.749	13.284	0.058	.	.	0.00299521	0.0017	0	0.0003	0	0	0.0002	0.0022	0.0110	0.001423	220	154602	rs539203658	0.0008	0.0008	0.0004	0.0011	0.0107	0.0007	0.0007	0.0101	0.0099	2.988e-05	0.0001	0.0002	0	0	0.0031	0.0001	0.0009	0.0107	0.0004	0.0004	0.0002	0.0007	0.0100	0.0003	0.0003	0.0077	0.0069	7.222e-05	0	0.0001	0.0003	0.0002	0	0	0.0001	0.0005	0.0100	0.204	0.20230	T	.	.	.	0.066	0.25827	B	0.048	0.24975	B	0.011978	0.29336	N	0.409575	0.839345	0.35041	D	1.59	0.40313	L	2.92	0.09915	T	-1.51	0.36787	N	0.402	0.46368	-1.0428	0.16473	T	0.023	0.09787	T	10	0.004542917	0.00094	T	.	.	.	0.058	0.16647	.	.	0.147330786459	0.14319	0.2536839376279002	0.25282	0.073922003083	0.08283	0.448291063309	0.31711	T	0.011993	0.16804	T	-0.492131	0.00633	T	-0.470294	0.25485	T	0.0321104357232268	0.02324	T	0.80342	0.45053	T	0.07441835	0.16699	0.09377533	0.22166	0.07441835	0.16699	0.09377533	0.22165	-1.63	0.02053	T	.	.	0.089	0.16319	B	.;.	.;.	2.851124	0.37639	20.5	0.99108619128877939	0.52674	0.83713	0.42813	D	AEFBI	0.231405	0.35464	N	-0.0197472950531815	0.40962	2.441774	0.176089135131733	0.48542	3.068596	0.844360948181729	0.24925	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.39	5.39	0.77615	2.311000	0.43377	6.018000	0.52751	0.599000	0.40250	0.976000	0.34826	1.000000	0.68203	0.997000	0.79791	0.0:0.9173:0.0:0.0827	13.284	0.59664	877	0.30165	RAVE complex protein Rav1 C-terminal;RAVE complex protein Rav1 C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1846.98	42	chr5	119149603	.	C	T	1846.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.570e-01;DP=998;ExcessHet=0.0000;FS=2.145;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.10;ReadPosRankSum=0.287;SOR=0.495	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1620	20	0	1	0
chr5	119150163	119150163	C	T	exonic	DMXL1	.	nonsynonymous SNV	DMXL1:NM_001290321:exon18:c.C4336T:p.L1446F	.	.	.	.	.	.	.	.	.	.	.	2325593	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	1.0	D	1.0	D	0.000	D	1.000	D	2.65	M	2.55	T	-0.947	T	0.128	T	0.501	2.964	15.88	5.42	2.705	3.376	19.576	0.192	0.0295049341261	.	.	4.958e-05	0	0	0.0007	0	0	0	0	3.88e-05	6	154602	rs772618591	8.895e-06	8.893e-06	9.531e-06	8.252e-06	0.0003	4.96e-06	3.82e-06	0.0002	0.0001	0	0	0	0.0003	0	0	1.799e-06	0	0	6.577e-06	6.568e-06	1.286e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.003	0.68238	D	.	.	.	1.0	0.90584	D	0.995	0.97372	D	0.000000	0.84330	D	0.052492	0.999992	0.58761	D	3.27	0.90083	M	2.54	0.13916	T	-3.43	0.67359	D	0.618	0.63374	-0.9472	0.41448	T	0.128	0.43625	T	10	0.21211022	0.37660	T	0.029505	0.52003	D	0.192	0.47115	0.275	0.22687	0.298199939746	0.29431	0.5821734151666957	0.58146	0.373947390385	0.38853	0.487354576588	0.37072	T	0.088094	0.58109	T	-0.295264	0.09113	T	-0.331901	0.41258	T	0.768275022506714	0.44336	D	0.886611	0.61335	D	0.6199908	0.73762	0.55103415	0.74040	0.6199908	0.73764	0.55103415	0.74040	-4.288	0.28008	T	.	.	0.478	0.65740	A	.;.	.;.	3.622927	0.51284	23.1	0.99878439872842484	0.95491	0.94055	0.59977	D	AEFBI	0.272814	0.38836	N	0.746372972366431	0.82668	7.820	0.698345213785724	0.82251	7.721481	0.99650445491037	0.34791	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.636168	0.56350	0	.	.	5.42	5.42	0.78666	3.452000	0.52735	4.938000	0.46187	0.599000	0.40250	0.991000	0.37257	1.000000	0.68203	0.866000	0.41154	0.0:1.0:0.0:0.0	19.576	0.95440	877	0.30165	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1435.98	42	chr5	119150163	.	C	T	1435.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.250e+00;DP=927;ExcessHet=0.0000;FS=0.636;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=-4.160e-01;SOR=0.774	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1620	20	0	1	0
chr5	119499449	119499449	T	C	exonic	HSD17B4	.	nonsynonymous SNV	HSD17B4:NM_001199292:exon12:c.T1051C:p.S351P	D-bifunctional protein deficiency, Autosomal recessive;Perrault syndrome 1, Autosomal recessive	.	2	1519	1	0	0	1	0.000329056	.	.	586310	HSD17B4-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.26	T	0.003	B	0.004	B	0.207	N	0.988	N	0.55	N	-1.75	D	-0.897	T	0.264	T	0.158	2.319	13.71	-0.052	0.043	0.698	4.261	0.119	0.0202688819982	.	.	1.649e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs781084978	3.496e-05	0.0004	3.764e-05	3.226e-05	0.0002	2.69e-05	2.427e-05	2.903e-05	2.574e-05	6.084e-05	0	0	2.53e-05	0	0.0002	3.878e-05	1.684e-05	3.505e-05	1.314e-05	1.313e-05	2.57e-05	0	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.242	0.22312	T	0.221	0.33109	T	0.001	0.11197	B	0.004	0.10090	B	0.207218	0.16453	N	0.644539	0.998062	0.24425	N	0.475	0.13142	N	-1.75	0.83495	D	-1.61	0.39314	N	0.175	0.23380	-0.8970	0.48293	T	0.264	0.63501	T	10	0.10314271	0.18945	T	0.020269	0.42829	T	0.119	0.33137	0.362	0.36711	0.824880002343	0.82322	0.5836028072308838	0.58289	0.0727130368711	0.08147	0.366561591625	0.20337	T	0.11293	0.42958	T	-0.102227	0.36054	T	-0.320973	0.42469	T	0.054950729434631	0.06349	T	0.766723	0.42712	T	0.19631228	0.41454	0.13157105	0.31591	0.19631228	0.41454	0.13157105	0.31590	-2.563	0.06901	T	0.09032067692630434	0.05612	0.076	0.05845	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.009926	0.25536	16.80	0.98932034170165739	0.48769	0.68143	0.33691	D	AEFBI	0.580553	0.58092	D	-0.52650164453884	0.21227	1.124927	-0.381430793229907	0.25551	1.40583	0.0673286344376866	0.15422	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.49	-0.052	0.13154	0.865000	0.27595	1.506000	0.26990	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1112:0.0816:0.4962:0.311	4.261	0.10188	920	0.19381	N-terminal of MaoC-like dehydratase;.;N-terminal of MaoC-like dehydratase;.;.;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	785.45	37	chr5	119499449	.	T	C	785.45	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-2.748e+00;DP=1279;ExcessHet=2.5830;FS=149.385;InbreedingCoeff=-0.1971;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=1.39;ReadPosRankSum=1.58;SOR=9.940	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,22:85:62:0|1:119499447_G_C:62,0,2000:119499447	14	0	7	0
chr5	122152258	122152258	C	T	exonic	ZNF474	.	nonsynonymous SNV	ZNF474:NM_207317:exon2:c.C268T:p.R90C,	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.991	D	0.004	N	0.999	D	1.1	L	0.73	T	-0.743	T	0.209	T	0.678	2.324	13.73	5.58	2.624	3.310	12.650	0.183	0.0418684860967	.	0.000199681	8.285e-06	0	0	0	0	1.508e-05	0	0	1.29e-05	2	154602	rs558433028	1.573e-05	1.642e-05	1.497e-05	1.65e-05	0.0003	1.048e-05	8.75e-06	6.092e-05	2.521e-05	0	6.708e-05	0	0	0	0.0003	9.892e-06	4.968e-05	4.637e-05	2.626e-05	2.625e-05	1.285e-05	4.028e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.005	0.63226	D	0.002	0.79402	D	1.0	0.90584	D	0.991	0.79672	D	0.004370	0.33816	N	0.157757	0.999299	0.46578	D	2.295	0.65404	M	0.73	0.50721	T	-4.02	0.74269	D	0.441	0.47949	-0.7430	0.58298	T	0.209	0.56812	T	10	0.44152543	0.58131	T	0.041868	0.60158	D	0.183	0.45592	0.365	0.37199	0.499409231958	0.49576	0.10725904827885067	0.10654	0.0129424438378	0.01244	0.438391208649	0.30357	T	0.180599	0.53199	T	-0.0310588	0.47262	T	-0.199525	0.54691	T	0.973936796188354	0.70299	D	0.860614	0.55382	D	0.19077131	0.40677	0.12675768	0.30525	0.19077131	0.40677	0.12675768	0.30524	-7.707	0.59056	D	.	.	0.203	0.42820	B	.	.	4.479191	0.69875	25.4	0.99923594176797181	0.98917	0.96111	0.67583	D	AEFBI	0.539807	0.55663	D	0.475924502675399	0.65688	4.854004	0.4488905966875	0.64645	4.724534	0.999997983267208	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.58	5.58	0.84361	3.338000	0.51846	4.052000	0.41516	0.599000	0.40250	0.998000	0.41325	0.999000	0.35428	0.075000	0.16954	0.2765:0.7235:0.0:0.0	12.650	0.56119	563	0.71062	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1059.98	34	chr5	122152258	.	C	T	1059.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.781;DP=800;ExcessHet=0.0000;FS=0.818;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=1.56;SOR=0.562	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,117,1755	20	0	1	0
chr5	122152903	122152903	A	T	exonic	ZNF474	.	nonsynonymous SNV	ZNF474:NM_207317:exon2:c.A913T:p.S305C,	.	.	432	1082	8	0	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.997	D	0.87	P	0.013	N	0.934	N	3.015	M	0.87	T	-0.977	T	0.276	T	0.61	2.103	12.99	4.22	2.058	2.604	4.885	0.344	.	7.7e-05	0.0103834	0.0047	0.0008	8.658e-05	0.0007	0	0	0.0022	0.0334	0.0041785	646	154602	rs142966550	0.0020	0.0020	0.0012	0.0028	0.0308	0.0019	0.0019	0.0298	0.0294	0.0010	6.708e-05	0	0.0002	0	0.0009	9.892e-06	0.0023	0.0308	0.0013	0.0013	0.0008	0.0018	0.0336	0.0011	0.0011	0.0294	0.0278	0.0006	0	6.542e-05	0	0.0006	0	0	2.94e-05	0.0009	0.0336	0.021	0.49117	D	0.121	0.35840	T	0.997	0.70673	D	0.87	0.61806	P	0.013344	0.01362	N	2.218490	0.933741	0.26988	N	3.255	0.89877	M	0.87	0.46412	T	-2.48	0.54059	N	0.522	0.55193	-0.9769	0.35705	T	0.276	0.64814	T	10	0.014505655	0.00305	T	.	.	.	0.344	0.66582	.	.	0.694656268378	0.69202	0.1420967220724041	0.14132	0.0159036709343	0.01523	0.348249346018	0.17664	T	0.026621	0.19664	T	-0.378965	0.03163	T	-0.292759	0.45485	T	0.090264037330059	0.11249	T	0.762724	0.38847	T	0.11759244	0.27720	0.12100691	0.29200	0.11759244	0.27720	0.12100691	0.29199	-7.153	0.55143	T	.	.	0.092	0.13550	B	.	.	2.867690	0.37909	20.6	0.98262406842843475	0.39676	0.76465	0.37504	D	AEFBI	0.188767	0.31603	N	0.519452288897005	0.68242	5.19013	0.426851866491775	0.63244	4.554317	0.999847939970408	0.43971	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.43	4.22	0.49153	1.878000	0.39244	2.124000	0.30738	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.407000	0.26939	0.749:0.0:0.0871:0.1638	4.885	0.13056	563	0.71062	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1766.98	34	chr5	122152903	.	A	T	1766.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.200e+00;DP=1099;ExcessHet=0.0000;FS=0.594;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=0.377;SOR=0.781	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1354	20	0	1	0
chr5	122403816	122403816	G	A	exonic	SNCAIP	.	nonsynonymous SNV	SNCAIP:NM_001308108:exon2:c.G35A:p.R12Q	.	.	420	1078	24	0	0	24	0.0110092	.	.	300450	not_provided|Parkinson_Disease,_Dominant/Recessive	MedGen:C3661900|MedGen:CN239308	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.1	T	0.0	B	0.0	B	.	.	1.000	D	.	.	4.99	T	-0.830	T	0.005	T	.	2.178	13.24	3.85	0.726	0.229	10.275	0.103	.	0.0012	0.00439297	0.0046	0.0002	0.0016	0	0	0.0025	0.0033	0.0220	0.0040232	622	154602	rs149915358	0.0026	0.0026	0.0020	0.0032	0.0209	0.0025	0.0025	0.0201	0.0198	0.0002	0.0010	0.0180	7.557e-05	3.744e-05	0.0172	0.0010	0.0037	0.0209	0.0017	0.0017	0.0013	0.0021	0.0201	0.0015	0.0015	0.0169	0.0157	0.0002	0	0.0007	0.0167	0.0004	0	0.0068	0.0010	0.0047	0.0201	0.278	0.15613	T	0.361	0.16914	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	.	.	.	4.99	0.01332	T	0.42	0.03352	N	0.164	0.17278	-0.8299	0.53308	T	0.005	0.01506	T	8	0.0058555007	0.00131	T	.	.	.	0.103	0.29403	.	.	0.212008924253	0.20833	.	.	.	.	.	.	.	.	.	.	-0.508087	0.00515	T	-0.486352	0.23774	T	0.00387300277121461	0.00041	T	0.517348	0.16736	T	.	.	.	.	.	.	.	.	-3.634	0.18350	T	.	.	0.086	0.10883	B	.	.	1.161504	0.15504	11.90	0.97119312405919456	0.32447	0.57759	0.30461	D	AEFBI	0.090564	0.18351	N	-0.586919002331743	0.19340	1.011473	-0.418239358622913	0.24462	1.339663	0.998661427860376	0.37413	0.638212	0.43195	0	0.541556	0.11502	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.64	3.85	0.43556	0.357000	0.19935	1.180000	0.24688	-1.177000	0.01391	0.998000	0.41325	1.000000	0.68203	0.985000	0.61073	0.1382:0.5734:0.2884:0.0	10.275	0.42687	790	0.46189	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	914.98	41	chr5	122403816	.	G	A	914.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=838;ExcessHet=0.0000;FS=0.763;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.47;ReadPosRankSum=1.03;SOR=0.836	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr5	123393331	123393331	C	T	exonic	CEP120	.	nonsynonymous SNV	CEP120:NM_001166226:exon6:c.G701A:p.R234H	Short-rib thoracic dysplasia 13 with or without polydactyly, Autosomal recessive	.	433	1082	7	0	0	7	0.00322432	.	.	691656	CEP120-related_disorder|not_specified|Short-rib_thoracic_dysplasia_13_with_or_without_polydactyly|not_provided|Inborn_genetic_diseases	.|MedGen:CN169374|MONDO:MONDO:0014577,MedGen:C4225378,OMIM:616300,Orphanet:474|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.818	P	0.149	B	0.004	N	1.000	D	0.83	L	2.13	T	-0.895	T	0.055	T	0.352	2.531	14.42	4.65	2.617	0.527	12.123	0.055	0.0141944589607	0.0041	0.00139776	0.0041	0.0001	0.0011	0.0001	0.0041	0.0065	0.0022	0.0006	0.0040168	621	154602	rs189429890	0.0050	0.0050	0.0051	0.0049	0.0060	0.0049	0.0049	0.0059	0.0058	0.0007	0.0009	0.0011	5.04e-05	0.0042	0.0024	0.0060	0.0040	0.0008	0.0034	0.0034	0.0035	0.0033	0.0060	0.0032	0.0031	0.0056	0.0054	0.0011	0	0.0009	0.0009	0	0.0037	0.0034	0.0060	0.0019	0.0008	0.046	0.40573	D	0.113	0.36901	T	0.818	0.45651	P	0.149	0.34106	B	0.003502	0.34847	N	0.277119	0.767352	0.34110	D	1.845	0.48678	L	2.13	0.48460	T	-2.51	0.54546	D	0.178	0.19190	-0.8954	0.48446	T	0.055	0.23375	T	10	0.0059015453	0.00132	T	0.014194	0.34139	T	0.055	0.15663	.	.	0.480801007081	0.47709	0.4345942927930696	0.43376	0.0945116682463	0.10674	0.327523320913	0.14560	T	0.299062	0.78989	T	-0.459265	0.00993	T	-0.426365	0.30348	T	0.0207609211795744	0.00776	T	0.785321	0.42297	T	0.13529576	0.31405	0.0952476	0.22581	0.121573605	0.28584	0.10807008	0.26027	-8.7	0.67310	D	0.25015925448594833	0.33860	0.086	0.17911	B	.;.;.;.	.;.;.;.	3.158478	0.42787	21.6	0.99667440302334287	0.78330	0.21320	0.21360	N	AEFGBI	0.076466	0.15383	N	-0.043943772980344	0.39875	2.35857	0.0162579708049605	0.40470	2.415677	0.999860201775038	0.44398	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.52	4.65	0.57626	0.550000	0.23052	4.049000	0.41491	-0.214000	0.08267	0.079000	0.22314	1.000000	0.68203	0.604000	0.31488	0.0:0.8644:0.0:0.1356	12.123	0.53203	902	0.24074	Domain of unknown function DUF3668;Domain of unknown function DUF3668;.;Domain of unknown function DUF3668	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1232.98	34	chr5	123393331	.	C	T	1232.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.419;DP=766;ExcessHet=0.0000;FS=0.924;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.81;ReadPosRankSum=0.506;SOR=0.503	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr5	123595103	123595103	T	G	exonic	CSNK1G3	.	nonsynonymous SNV	CSNK1G3:NM_001364146:exon8:c.T812G:p.L271R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.728	P	0.201	B	0.000	D	1.000	D	1.445	L	0.66	T	-1.026	T	0.103	T	0.827	3.480	17.81	5.11	2.219	7.086	15.279	0.215	0.0302191805201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.52492	D	0.341	0.22223	T	0.146	0.42542	B	0.188	0.36881	B	0.000102	0.50451	D	0.000000	0.995227	0.81001	D	1.545	0.39105	L	0.66	0.52416	T	-1.14	0.29323	N	0.729	0.73645	-1.0259	0.21788	T	0.103	0.37994	T	10	0.5367563	0.63491	D	0.030219	0.52574	D	0.215	0.50805	0.322	0.30226	0.648104007182	0.64519	0.5893629968392997	0.58866	.	.	0.780249357224	0.78964	T	0.130459	0.45937	T	0.142405	0.68552	D	-0.0332217	0.68154	D	0.956842243671417	0.64859	D	0.941306	0.78096	D	0.38645712	0.59780	0.3586641	0.61338	0.38645712	0.59780	0.3586641	0.61338	-2.525	0.09203	T	.	.	0.388	0.67903	A	.;.	.;.	4.834908	0.78885	27.0	0.99414548698464067	0.63453	0.98132	0.79872	D	AEFBI	0.812712	0.73537	D	0.165058426640068	0.49528	3.152098	0.297419357789297	0.55389	3.70194	0.999999959185718	0.74766	0.562547	0.31514	0	0.632674	0.54651	1	0.608075	0.38828	0	0.635551	0.53088	0	.	.	5.11	5.11	0.69188	7.109000	0.76703	7.611000	0.61914	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.279	0.73467	963	0.08280	Casein kinase 1 gamma C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	528.98	33	chr5	123595103	.	T	G	528.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.211e+00;DP=762;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.78;ReadPosRankSum=0.571;SOR=0.716	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr5	124701214	124701214	G	A	exonic	ZNF608	.	nonsynonymous SNV	ZNF608:NM_001385621:exon2:c.C98T:p.T33M	.	.	438	1075	9	0	0	9	0.0041686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.653	P	0.251	B	0.062	N	1.000	D	0	N	0.83	T	-0.907	T	0.065	T	0.473	4.025	20.6	5.93	2.826	4.244	20.354	0.139	0.00653882320668	0.0025	0.00119808	0.0024	0.0004	0.0006	0	0.0009	0.0036	0.0044	0.0018	0.0001153	3	26028	rs61752319	0.0029	0.0029	0.0028	0.0029	0.0040	0.0028	0.0028	0.0030	0.0030	0.0006	0.0009	0.0100	0	0.0009	0.0040	0.0031	0.0028	0.0023	0.0022	0.0022	0.0021	0.0024	0.0032	0.0020	0.0020	0.0029	0.0027	0.0005	0.0285	0.0016	0.0078	0	0.0004	0.0034	0.0032	0.0038	0.0025	0.001	0.78490	D	0.007	0.69154	D	0.653	0.40782	P	0.251	0.39041	B	0.062308	0.22106	N	0.468620	0.601105	0.81001	D	1.24	0.30952	L	0.83	0.47815	T	-1.02	0.32991	N	0.332	0.37301	-0.9071	0.47203	T	0.065	0.27017	T	10	0.005864769	0.00131	T	0.006539	0.17243	T	0.139	0.37390	.	.	0.168254554758	0.16434	0.5499942946604218	0.54925	1.43300071254	0.85839	0.465158849955	0.34017	T	0.025329	0.30851	T	-0.353787	0.04494	T	-0.283388	0.46457	T	0.0485791967406243	0.05248	T	0.90471	0.66491	D	0.07214024	0.16026	0.10775087	0.25945	0.07214024	0.16026	0.10775087	0.25945	-4.742	0.33908	T	.	.	0.090	0.14614	B	.;.;.;.	.;.;.;.	4.553752	0.71695	25.7	0.9988956845974768	0.96359	0.94084	0.60064	D	AEFDGBI	0.495553	0.53087	N	0.235761028442174	0.52940	3.465171	0.408047958906541	0.62064	4.415873	0.999999999984191	0.74766	0.741868	0.97996	0	0.80507	0.99744	0	0.774882	0.98623	0	0.635551	0.53088	0	.	.	5.93	5.93	0.95888	6.430000	0.73316	11.915000	0.99681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.354	0.98826	942	0.12992	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1133.98	35	chr5	124701214	.	G	A	1133.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.279e+00;DP=798;ExcessHet=0.0000;FS=2.492;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.22;ReadPosRankSum=-7.430e-01;SOR=0.476	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr5	126465479	126465479	C	G	exonic	GRAMD2B	.	nonsynonymous SNV	GRAMD2B:NM_001146319:exon2:c.C182G:p.T61R	.	.	441	1076	5	0	0	5	0.00231803	.	.	3262376	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.23	T	0.901	P	0.369	B	0.699	N	0.999	N	.	.	1.39	T	-1.046	T	0.073	T	0.338	2.040	12.78	3.01	0.539	1.188	7.005	0.032	0.0196020830348	.	0.000199681	2.471e-05	0	0	0	0	1.498e-05	0	0.0001	3.23e-05	5	154602	rs557678712	3.078e-05	3.078e-05	1.497e-05	4.675e-05	0.0009	2.347e-05	2.095e-05	0.0003	0.0002	0	0	0	0	0	0.0009	7.194e-06	8.279e-05	0.0003	3.94e-05	3.937e-05	1.285e-05	6.713e-05	0.0006	1.714e-05	1.129e-05	0.0002	8.996e-05	0	0	0	0	0	0	0	2.94e-05	0.0005	0.0006	0.015	0.63226	D	0.162	0.31225	T	0.498	0.37115	P	0.203	0.37000	B	0.699030	0.06191	N	1.141110	1	0.21358	N	.	.	.	1.39	0.34648	T	-1.88	0.47852	N	0.255	0.39861	-1.0462	0.15476	T	0.073	0.29547	T	9	0.046890408	0.03937	T	0.019602	0.42004	T	0.068	0.19811	0.178	0.08503	0.358340041657	0.35441	0.2023668524810708	0.20153	0.300872921453	0.32440	0.318259686232	0.13156	T	0.022068	0.24663	T	-0.311869	0.07585	T	-0.369599	0.36935	T	0.105263002216816	0.12925	T	0.868313	0.57032	D	0.082647495	0.19050	0.093631946	0.22126	0.082647495	0.19050	0.093631946	0.22125	-3.41	0.16784	T	.	.	0.108	0.28319	B	.;.;.;.;.	.;.;.;.;.	2.071768	0.26345	17.09	0.98537930972416854	0.42682	0.08185	0.14146	N	AEFBI	0.144950	0.26804	N	-0.257081969121255	0.30822	1.722239	-0.299949057946765	0.28100	1.564163	0.997497828733064	0.35680	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.82	3.01	0.33872	1.205000	0.31914	3.130000	0.36437	0.599000	0.40250	0.004000	0.16614	0.609000	0.25758	0.952000	0.50033	0.0:0.7297:0.1744:0.0959	7.005	0.24009	586	0.69252	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	752.98	35	chr5	126465479	.	C	G	752.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.570e+00;DP=746;ExcessHet=0.0000;FS=2.380;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.21;ReadPosRankSum=1.65;SOR=0.494	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr5	126577158	126577158	T	C	exonic	ALDH7A1	.	nonsynonymous SNV	ALDH7A1:NM_001182:exon6:c.A571G:p.I191V	Epilepsy, pyridoxine-dependent, Autosomal recessive	YES	2	1518	2	0	0	2	0.000658328	.	.	389123	Abnormal_brain_morphology	Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	2.635	M	-1.61	D	0.602	D	0.727	D	0.669	3.976	20.3	5.2	2.308	7.517	15.184	0.724	0.10426394574	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1060499755	6.84e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.034	0.63918	D	0.999	0.77913	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.875	0.83380	M	-1.61	0.82254	D	-0.98	0.26422	N	0.866	0.88466	0.602	0.91926	D	0.727	0.90665	D	10	0.8503511	0.84211	D	0.104264	0.77875	D	0.724	0.90280	0.735	0.86806	0.93445853736	0.93378	0.6248088545988907	0.62413	0.566867878538	0.52963	0.678668320179	0.64078	T	0.076319	0.73990	T	0.215169	0.75318	D	0.0712986	0.74996	D	0.952938377857208	0.63909	D	0.987701	0.96624	D	0.6986181	0.77981	0.5837223	0.75864	0.65031445	0.75382	0.5338997	0.73068	-6.528	0.58269	T	.	.	0.290	0.59600	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	4.302583	0.65709	24.9	0.99878451779679911	0.95491	0.98028	0.78995	D	AEFDBIJ	0.941856	0.94569	D	0.742586401052079	0.82422	7.758376	0.66444347764043	0.79690	7.136048	0.999999512775489	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	7.739000	0.83905	7.820000	0.69717	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.276000	0.23917	0.0:0.0:0.0:1.0	15.184	0.72671	645	0.63593	Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;.;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1577.98	37	chr5	126577158	.	T	C	1577.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.077e+00;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=0.170;SOR=0.737	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1093	20	0	1	0
chr5	128084110	128084110	C	G	exonic	SLC12A2	.	nonsynonymous SNV	SLC12A2:NM_001046:exon1:c.C156G:p.D52E	.	.	382	1129	11	0	0	11	0.00484795	.	.	1662089	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.002	B	0.009	B	0.616	N	1.000	N	0	N	-1.85	D	-0.793	T	0.275	T	0.069	-1.620	0.013	0.618	0.544	-0.276	5.998	0.229	.	.	0.00399361	0.0450	0	0.125	0	.	0	0.1	0.0502	0.0008603	133	154602	rs540907216	0.0013	0.0015	0.0011	0.0016	0.0146	0.0013	0.0013	0.0136	0.0132	0.0002	0.0005	0.0038	0.0001	7.908e-05	0.0047	0.0008	0.0020	0.0146	0.0012	0.0012	0.0009	0.0014	0.0149	0.0010	0.0010	0.0121	0.0111	0.0002	0	0.0015	0.0029	0	0	0	0.0009	0.0014	0.0149	1.0	0.00964	T	1.0	0.01155	T	0.001	0.09854	B	0.003	0.14300	B	0.615914	0.05728	N	1.241770	1	0.08975	N	0.69	0.16971	N	-1.85	0.84341	D	0.06	0.06253	N	0.049	0.02559	-0.7928	0.55566	T	0.275	0.64629	T	10	0.0023020804	0.00034	T	.	.	.	0.229	0.52916	0.07	0.00395	0.335916738318	0.33200	0.18475788579697644	0.18393	0.646648351517	0.58073	0.890226721764	0.95289	D	0.169723	0.51720	T	-0.52467	0.00413	T	-0.512149	0.21094	T	0.00903742630969716	0.00113	T	0.634936	0.24909	T	0.0369383	0.04641	0.033514716	0.02260	0.03461549	0.03918	0.033514716	0.02260	-3.441	0.16195	T	.	.	0.076	0.17317	B	.;.;.	.;.;.	0.352858	0.07257	3.861	0.65902254356451717	0.07905	0.09044	0.14877	N	AEFGBHCI	0.058444	0.10966	N	-1.18246302758639	0.05265	0.239603	-1.13172377916255	0.07100	0.3441349	0.99999977645087	0.74766	0.65757	0.49021	0	0.218748	0.04544	0	0.619478	0.44681	0	0.492483	0.08430	1	.	.	3.86	0.618	0.16800	-1.628000	0.02134	0.012000	0.13456	0.442000	0.21104	0.000000	0.06391	0.301000	0.24220	0.040000	0.14268	0.0:0.5047:0.2784:0.2168	5.998	0.18732	737	0.53483	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	61.02	20	chr5	128084110	.	C	G	61.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=403;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0273;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=3.05;ReadPosRankSum=-4.260e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:22,0:22:60:0,60,610	20	0	1	0
chr5	128261768	128261768	T	G	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon64:c.A8332C:p.K2778Q,	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	0	1518	4	0	0	4	0.00131579	.	.	209653	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Connective_tissue_disorder|not_provided|FBN2-related_disorder|Congenital_contractural_arachnodactyly	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:C3661900|.|MONDO:MONDO:0007363,MedGen:C0220668,OMIM:121050,Orphanet:115	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.455	P	0.11	B	0.000	D	1.000	D	1.39	L	-1.95	D	-0.042	T	0.433	T	0.365	2.399	13.98	4.29	1.064	2.577	12.594	0.379	.	7.7e-05	0.00199681	0.0015	0	0.0003	0	0	5.994e-05	0.0022	0.0103	0.0012548	194	154602	rs371715068	0.0007	0.0007	0.0004	0.0011	0.0107	0.0007	0.0007	0.0101	0.0099	0	2.236e-05	0	2.519e-05	0	0.0012	8.004e-05	0.0008	0.0107	0.0003	0.0003	0.0002	0.0005	0.0089	0.0002	0.0002	0.0068	0.0060	4.809e-05	0	0	0	0	0	0.0034	2.94e-05	0	0.0089	0.028	0.46129	D	.	.	.	0.455	0.36245	P	0.11	0.31460	B	0.000169	0.48594	D	0.089755	0.648583	0.32942	D	2.19	0.61577	M	-1.95	0.85003	D	-1.33	0.33197	N	0.378	0.47857	-0.0423	0.81369	T	0.433	0.77381	T	10	0.0089434385	0.00202	T	.	.	.	0.379	0.69696	.	.	0.731595758872	0.72920	0.43575670581211745	0.43492	0.342415349429	0.36184	0.379352450371	0.22165	T	0.250057	0.62011	T	-0.282861	0.10366	T	-0.169692	0.57471	T	0.0301095422234892	0.02007	T	0.611339	0.23205	T	0.112824924	0.26650	0.08668732	0.20101	0.13665086	0.31670	0.08352664	0.19148	-7.425	0.57081	T	0.19265991467515794	0.25322	0.217	0.44720	B	.;.;.	.;.;.	3.036482	0.40690	21.2	0.97879717112879006	0.36594	0.95459	0.64805	D	AEFBI	0.546246	0.56042	D	-0.105089182732931	0.37170	2.158746	-0.0336027925218552	0.38207	2.247773	0.999508203568386	0.40062	0.706548	0.73137	0	0.573888	0.26702	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.48	4.29	0.50359	2.544000	0.45420	4.047000	0.41475	0.665000	0.62972	0.903000	0.31499	1.000000	0.68203	0.842000	0.39752	0.0:0.0:0.1387:0.8613	12.594	0.55813	749	0.51929	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1231.98	34	chr5	128261768	.	T	G	1231.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.380e-01;DP=795;ExcessHet=0.0000;FS=3.595;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.73;ReadPosRankSum=-4.750e-01;SOR=0.495	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1314	20	0	1	0
chr5	128261795	128261795	C	T	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon64:c.G8305A:p.G2769S,	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	632969	Congenital_contractural_arachnodactyly|Familial_thoracic_aortic_aneurysm_and_aortic_dissection	MONDO:MONDO:0007363,MedGen:C0220668,OMIM:121050,Orphanet:115|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.998	D	0.000	D	1.000	D	2.415	M	-1.95	D	0.587	D	0.767	D	0.786	4.208	21.8	5.48	2.861	7.609	19.556	0.610	0.111775454326	7.7e-05	.	6.59e-05	0	0	0	0	5.994e-05	0	0.0002	5.17e-05	8	154602	rs372206279	6.635e-05	6.704e-05	7.623e-05	5.638e-05	0.0002	5.562e-05	5.152e-05	6.234e-05	5.739e-05	2.987e-05	6.708e-05	0	0	0	0.0002	7.554e-05	0	9.275e-05	2.628e-05	2.627e-05	2.569e-05	2.689e-05	4.825e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.825e-05	0	0	0	0	0	0	2.939e-05	0	0	0.004	0.65419	D	.	.	.	1.0	0.90584	D	0.998	0.88582	D	0.000005	0.62929	D	0.000000	1	0.81001	D	2.865	0.83145	M	-1.95	0.85003	D	-4.52	0.78302	D	0.805	0.81261	0.587	0.91733	D	0.767	0.92062	D	10	0.8623401	0.85460	D	0.111775	0.78968	D	0.610	0.84719	.	.	0.798769198521	0.79689	0.5916279051064456	0.59092	0.327145589072	0.34850	0.55291646719	0.46269	T	0.716778	0.91964	D	0.093123	0.63538	D	0.170288	0.81426	D	0.859431385993958	0.51000	D	0.89741	0.64114	D	0.4268068	0.62543	0.3470657	0.60366	0.4268068	0.62543	0.3470657	0.60365	-2.795	0.08138	T	0.1838444620592106	0.23818	0.089	0.12276	B	.;.;.	.;.;.	4.089098	0.60890	24.3	0.99765735878320383	0.85417	0.99509	0.96885	D	AEFBI	0.940536	0.94260	D	0.734910527599005	0.81922	7.636582	0.658400339400096	0.79237	7.04029	0.999999999997818	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.905000	0.86479	6.017000	0.52736	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.332000	0.25247	0.0:1.0:0.0:0.0	19.556	0.95339	749	0.51929	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3380.08	34	chr5	128261795	.	C	T	3380.08	.	AC=2;AF=0.048;AN=42;DP=811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.39;SOR=0.782	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1314	20	1	0	0
chr5	128288437	128288437	C	T	splicing	FBN2	NM_001999:exon53:c.6757+1G>A	.	.	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2672326	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.638	25.4	4.86	2.698	7.609	18.546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462192	0.93022	D	0.426131	0.92935	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.706657	0.93146	33	0.9956273049014901	0.71892	0.99610	0.97961	D	AEFBI	.	.	.	1.14852595648222	0.98936	19.94604	0.987184040390611	0.98363	18.07802	0.999999999969448	0.74766	0.163922	0.03765	0	0.063388	0.01293	0	0.175069	0.04249	0	0.24341	0.04801	0	0.987168	0.95559	4.86	4.86	0.62624	7.905000	0.86479	7.672000	0.64834	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	998.3	81	chr5	128288437	.	C	T,G	998.3	.	AC=2,4;AF=0.050,0.100;AN=40;BaseQRankSum=-2.166e+00;DP=1550;ExcessHet=1.7912;FS=154.586;InbreedingCoeff=-0.2036;MLEAC=2,4;MLEAF=0.050,0.100;MQ=60.00;MQRankSum=0.00;QD=1.63;ReadPosRankSum=1.36;SOR=9.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:79,0,0:79:37:.:.:0,37,1381,37,1381,1381	14	0	2	1
chr5	128288437	128288437	C	G	splicing	FBN2	NM_001999:exon53:c.6757+1G>C	.	.	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.514	24.3	4.86	2.698	7.609	18.546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	1.3e-05	1.363e-06	0	.	0	0	.	.	0	0	3.828e-05	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.452291	0.92585	D	0.411908	0.92493	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.587977	0.92356	32	0.99542283063003867	0.70586	0.99662	0.98450	D	AEFBI	.	.	.	1.14852595648222	0.98936	19.94604	0.987184040390611	0.98363	18.07802	0.999999999969448	0.74766	0.163922	0.03765	0	0.063388	0.01293	0	0.175069	0.04249	0	0.24341	0.04801	0	0.987168	0.95559	4.86	4.86	0.62624	7.905000	0.86479	7.672000	0.64834	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	998.3	81	chr5	128288437	.	C	T,G	998.3	.	AC=2,4;AF=0.050,0.100;AN=40;BaseQRankSum=-2.166e+00;DP=1550;ExcessHet=1.7912;FS=154.586;InbreedingCoeff=-0.2036;MLEAC=2,4;MLEAF=0.050,0.100;MQ=60.00;MQRankSum=0.00;QD=1.63;ReadPosRankSum=1.36;SOR=9.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:79,0,0:79:37:.:.:0,37,1381,37,1381,1381	14	0	2	1
chr5	128288438	128288438	C	G	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.G6757C:p.D2253H,	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.999	D	0.695	N	1.000	D	3.32	M	-5.39	D	1.101	D	0.983	D	0.927	4.525	24.4	4.86	2.698	7.609	18.546	0.879	0.430626382782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.694607	0.10146	N	0.852832	1	0.81001	D	3.835	0.95663	H	-5.39	0.99055	D	-5.33	0.84601	D	0.946	0.95374	1.101	0.99694	D	0.983	0.99482	D	9	0.98123467	0.98137	D	0.430626	0.93974	D	0.879	0.96428	0.905	0.97985	0.931387637819	0.93068	0.9248113223682665	0.92458	0.944348631935	0.72353	0.844889104366	0.88841	D	0.843142	0.96360	D	0.584583	0.97082	D	0.601936	0.97034	D	0.999141216278076	0.96328	D	0.989326	0.96464	D	0.6636905	0.76096	0.6756067	0.80952	0.6636905	0.76098	0.6756067	0.80952	-14.719	0.95159	D	.	.	0.995	0.95383	P	.;.;.	.;.;.	6.541209	0.95375	34	0.99491875384234207	0.67516	0.99662	0.98450	D	AEFBI	0.955192	0.97285	D	0.930340387445476	0.93165	11.86249	0.848877612808232	0.92950	11.73124	0.999999999969448	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.86	4.86	0.62624	7.905000	0.86479	5.978000	0.52118	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4583	1580.95	81	chr5	128288438	.	C	G	1580.95	.	AC=11;AF=0.458;AN=24;BaseQRankSum=-1.136e+00;DP=1745;ExcessHet=7.7275;FS=212.727;InbreedingCoeff=-0.5735;MLEAC=15;MLEAF=0.625;MQ=60.00;MQRankSum=0.00;QD=1.49;ReadPosRankSum=1.53;SOR=10.054	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:39,0:39:0:.:.:0,0,319	1	0	11	9
chr5	128288443	128288443	C	T	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.G6752A:p.C2251Y,	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.996	D	0.171	N	1.000	D	3.06	M	-2.76	D	0.409	D	0.906	D	0.995	4.376	23.1	4.86	2.698	7.609	18.546	0.824	0.123461768064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	0.997	0.70673	D	0.996	0.84481	D	0.171149	0.03111	N	1.846500	0.999999	0.58761	D	3.695	0.94570	H	-2.76	0.90848	D	-7.86	0.96085	D	0.964	0.97535	0.409	0.89235	D	0.906	0.96895	D	10	0.9834906	0.98490	D	0.123462	0.80464	D	0.824	0.94390	0.946	0.99325	0.934085895406	0.93340	0.9903539687419001	0.99030	1.12556060977	0.78443	0.884529829025	0.94562	D	0.926386	0.98721	D	0.498134	0.94243	D	0.477758	0.94166	D	0.998788297176361	0.95158	D	0.972403	0.89999	D	0.7648719	0.81741	0.7838173	0.87263	0.7648719	0.81743	0.7838173	0.87263	-11.076	0.80073	D	0.8184896870235474	0.89198	0.994	0.95199	P	.;.;.	.;.;.	5.178057	0.86807	29.0	0.99745666006938727	0.83852	0.99610	0.97961	D	AEFBI	0.953479	0.96980	D	0.90111024418429	0.91813	11.07861	0.83141225828265	0.91884	11.11993	0.999999999969448	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.86	4.86	0.62624	7.905000	0.86479	7.674000	0.64943	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	873.43	41	chr5	128288443	.	C	T,G	873.43	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-2.547e+00;DP=1487;ExcessHet=0.3300;FS=253.302;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.70;ReadPosRankSum=2.60;SOR=8.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:72,0,0:72:99:.:.:0,99,1449,99,1449,1449	18	0	2	0
chr5	128288443	128288443	C	G	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.G6752C:p.C2251S,	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.991	D	0.991	D	0.171	N	1.000	D	3.06	M	-2.76	D	0.407	D	0.906	D	0.989	4.535	24.5	4.86	2.698	7.609	18.546	0.817	0.114977268281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	.	.	.	0.991	0.64070	D	0.991	0.79672	D	0.171149	0.03111	N	1.846500	0.999998	0.58761	D	3.35	0.91085	M	-2.76	0.90848	D	-7.23	0.94300	D	0.94	0.94668	0.407	0.89195	D	0.906	0.96872	D	10	0.9754184	0.97290	D	0.114977	0.79401	D	0.817	0.94123	0.906	0.98027	0.933244731319	0.93255	0.9847937345538913	0.98472	0.753181062294	0.63881	0.828525781631	0.86336	D	0.925487	0.98698	D	0.484054	0.93833	D	0.457534	0.93755	D	0.9776571393013	0.71947	D	0.957071	0.83814	D	0.7416861	0.80389	0.7407168	0.84674	0.7416861	0.80390	0.7407168	0.84675	-13.457	0.91158	D	0.8639128091276882	0.92661	0.998	0.97755	P	.;.;.	.;.;.	5.034829	0.83769	28.1	0.99492420662632319	0.67516	0.99662	0.98450	D	AEFBI	0.954903	0.97235	D	0.897885656281263	0.91654	10.99508	0.829146643970687	0.91743	11.04352	0.999999999969448	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.86	4.86	0.62624	7.905000	0.86479	7.674000	0.64943	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	873.43	41	chr5	128288443	.	C	T,G	873.43	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-2.547e+00;DP=1487;ExcessHet=0.3300;FS=253.302;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.70;ReadPosRankSum=2.60;SOR=8.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:72,0,0:72:99:.:.:0,99,1449,99,1449,1449	18	0	2	0
chr5	128288444	128288444	A	G	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.T6751C:p.C2251R,	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.996	D	0.171	N	1.000	D	3.06	M	-2.78	D	0.348	D	0.898	D	0.995	4.054	20.8	4.72	2.110	9.087	14.659	0.854	0.20491362062	7.7e-05	.	8.251e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs377678254	0	4.109e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	0.997	0.70673	D	0.996	0.84481	D	0.171149	0.03111	N	1.846500	1	0.81001	D	3.695	0.94570	H	-2.78	0.90962	D	-8.67	0.97580	D	0.973	0.99015	0.348	0.88301	D	0.898	0.96618	D	10	0.9484539	0.94175	D	0.204914	0.86956	D	0.854	0.95507	.	.	0.953610712289	0.95311	0.9912745761668067	0.99122	0.944026267107	0.72331	0.878701329231	0.93785	D	0.925175	0.98690	D	0.504643	0.94436	D	0.487108	0.94357	D	0.999381065368652	0.97194	D	0.950805	0.81197	D	0.9238388	0.93623	0.88105124	0.93635	0.9238388	0.93624	0.88105124	0.93635	-12.745	0.88285	D	0.8721025990884144	0.93250	0.998	0.97573	P	.;.;.	.;.;.	5.128776	0.85820	28.7	0.9978510937982501	0.87131	0.99720	0.98948	D	AEFBI	0.954903	0.97235	D	0.872216392941965	0.90336	10.35719	0.795737407634473	0.89493	9.998643	0.999999875885111	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.72	4.72	0.59248	9.325000	0.96006	11.217000	0.89620	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	14.659	0.68458	733	0.53988	EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	540.11	41	chr5	128288444	.	A	G	540.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.714e+00;DP=1480;ExcessHet=0.1072;FS=175.858;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=2.66;ReadPosRankSum=2.65;SOR=7.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:72,0:72:99:.:.:0,99,1449	19	0	2	0
chr5	129461200	129461200	G	A	exonic	ADAMTS19	.	nonsynonymous SNV	ADAMTS19:NM_133638:exon2:c.G190A:p.A64T,	.	.	433	996	89	4	0	97	0.0464337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	B	0.012	B	0.357	N	1.000	N	0	N	-0.17	T	-1.059	T	0.042	T	0.194	1.982	12.58	-2.57	-0.549	0.697	8.352	0.042	.	.	0.00798722	0.0423	0	0	0	.	0.0098	0	0.0556	0.0023738	367	154602	rs149861653	0.0092	0.0086	0.0086	0.0098	0.0419	0.0090	0.0090	0.0401	0.0394	0.0019	0.0113	0.0262	3.704e-05	0.0008	0.0326	0.0081	0.0115	0.0419	0.0070	0.0070	0.0071	0.0069	0.0318	0.0067	0.0065	0.0277	0.0261	0.0024	0.0077	0.0077	0.0274	0.0008	0.0002	0.0171	0.0083	0.0090	0.0318	.	.	.	.	.	.	0.203	0.29776	B	0.012	0.16012	B	0.356684	0.13733	N	0.540328	0.999988	0.18198	N	0.345	0.11182	N	.	.	.	.	.	.	.	.	-1.0592	0.11956	T	0.042	0.18118	T	9	0.0025759041	0.00039	T	.	.	.	0.042	0.11227	.	.	.	.	0.14575235333896494	0.14498	1.40670516952	0.85333	0.89497846365	0.95864	D	0.004443	0.03847	T	-0.524688	0.00413	T	-0.462224	0.26357	T	0.00914668875011865	0.00115	T	0.557244	0.19380	T	0.06468684	0.13749	0.10315857	0.24744	0.06468684	0.13749	0.10315857	0.24744	-5.653	0.43273	T	.	.	0.088	0.11797	B	.;.	.;.	2.266258	0.28962	17.97	0.98187687496377318	0.39001	0.41712	0.26718	N	AEFDBHCI	0.075369	0.15133	N	-0.911132831483757	0.10581	0.5062969	-0.901174283232643	0.12066	0.6185421	0.999999553852746	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.239995	0.05000	1	0.554799	0.18163	0	.	.	3.49	-2.57	0.05885	0.749000	0.25985	3.328000	0.37603	0.498000	0.22619	0.997000	0.40164	1.000000	0.68203	0.829000	0.39076	0.0:0.3642:0.2657:0.3701	8.352	0.31471	721	0.55360	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	156.98	21	chr5	129461200	.	G	A	156.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.188e+00;DP=482;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.54;ReadPosRankSum=0.985;SOR=0.941	GT:AD:DP:GQ:PL	0/1:17,7:24:99:171,0,522	20	0	1	0
chr5	131670501	131670501	G	A	exonic	FNIP1	.	nonsynonymous SNV	FNIP1:NM_001008738:exon14:c.C2986T:p.R996C	.	.	438	1081	3	0	0	3	0.00138568	.	.	2706846	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.917	D	.	.	1.000	D	1.845	L	2.62	T	-1.190	T	0.078	T	0.938	3.840	19.50	6.02	2.857	3.553	13.411	0.272	0.0273002320026	7.7e-05	.	3.304e-05	0	0	0	0	3.005e-05	0.0011	6.098e-05	2.59e-05	4	154602	rs143921415	2.739e-05	2.736e-05	1.908e-05	3.579e-05	2.969e-05	2.065e-05	1.818e-05	2.117e-05	1.863e-05	0	0	0	2.523e-05	5.618e-05	0	2.969e-05	1.659e-05	2.326e-05	2.63e-05	2.627e-05	1.286e-05	4.038e-05	4.411e-05	8.15e-06	5.14e-06	1.171e-05	6.25e-06	2.415e-05	0	0	0	0	0	0	4.411e-05	0	0	0.001	0.78490	D	0.002	0.83351	D	1.0	0.90584	D	0.894	0.65306	P	.	.	.	.	0.999994	0.81001	D	1.5	0.37844	L	2.6	0.13204	T	-4.61	0.82450	D	0.873	0.87265	-1.1902	0.00240	T	0.078	0.31072	T	9	0.6990173	0.72325	D	0.027	0.50125	D	0.272	0.58758	.	.	0.117191471859	0.11215	0.5930691264892375	0.59236	0.398566252072	0.40910	.	.	.	0.171659	0.64534	T	0.0602909	0.59649	T	0.0309741	0.72341	D	0.644260585308075	0.38217	D	0.90321	0.67118	D	0.32257482	0.54856	0.3576969	0.61259	0.32257482	0.54856	0.3576969	0.61258	-10.782	0.78706	D	.	.	0.192	0.41372	B	.;.;.;.	.;.;.;.	5.619354	0.92591	32	0.99921919378780033	0.98787	0.93401	0.58119	D	AEFBI	0.506025	0.53692	D	0.70420063770775	0.79909	7.178193	0.720538382207275	0.83938	8.154991	0.999998246233046	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	6.02	6.02	0.97559	3.597000	0.53777	8.639000	0.77885	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.743:0.257	13.411	0.60391	375	0.84013	.;Folliculin-interacting protein, C-terminal domain|Tripartite DENN domain, FNIP1/2-type;Folliculin-interacting protein, C-terminal domain|Tripartite DENN domain, FNIP1/2-type;Folliculin-interacting protein, C-terminal domain|Tripartite DENN domain, FNIP1/2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1226.98	33	chr5	131670501	.	G	A	1226.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.712;DP=840;ExcessHet=0.0000;FS=2.310;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=0.247;SOR=0.505	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,117,1755	20	0	1	0
chr5	131671732	131671732	G	C	exonic	FNIP1	.	nonsynonymous SNV	FNIP1:NM_001008738:exon13:c.C2628G:p.D876E	.	.	428	1091	3	0	0	3	0.001373	.	.	2102489	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.5	T	0.008	B	0.014	B	.	.	1.000	D	1.955	M	2.47	T	-1.099	T	0.045	T	0.643	1.673	11.55	4.43	1.233	4.114	13.911	0.121	0.00906666602618	0.0007	.	0.0005	9.694e-05	0.0003	0	0.0002	0.0007	0	0.0008	0.0005045	78	154602	rs144448122	0.0007	0.0007	0.0007	0.0008	0.0019	0.0007	0.0007	0.0011	0.0008	2.987e-05	0.0006	0	0	7.49e-05	0.0019	0.0008	0.0007	0.0010	0.0005	0.0005	0.0006	0.0004	0.0012	0.0004	0.0004	0.0007	0.0005	4.815e-05	0	0.0010	0	0	0.0003	0.0034	0.0007	0.0005	0.0012	0.045	0.41915	D	0.71	0.05863	T	0.008	0.14655	B	0.014	0.16862	B	.	.	.	.	0.998899	0.81001	D	2.045	0.56016	M	2.43	0.15261	T	-1.12	0.28906	N	0.14	0.19055	-1.0994	0.04164	T	0.045	0.19478	T	9	0.021566361	0.00519	T	0.009067	0.23869	T	0.121	0.33580	0.138	0.04187	0.0934897674506	0.08844	0.3487595176094762	0.34789	0.0598001417922	0.06652	.	.	.	0.018107	0.14658	T	-0.334177	0.05801	T	-0.309146	0.43751	T	0.0168132154750954	0.00435	T	0.741226	0.36032	T	0.15457225	0.34978	0.12969416	0.31179	0.15457225	0.34978	0.12969416	0.31178	-2.884	0.08984	T	.	.	0.17	0.44872	B	.;.;.;.	.;.;.;.	2.486227	0.32067	18.93	0.97931400813164871	0.36956	0.87272	0.46761	D	AEFDBHCI	0.561268	0.56933	D	-0.135815289905262	0.35840	2.063801	0.0137751227030813	0.40354	2.406948	0.999999999899221	0.74766	0.75658	0.98901	0	0.858454	0.99946	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	5.3	4.43	0.52967	4.244000	0.58522	5.853000	0.50357	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0735:0.0:0.9265:0.0	13.911	0.63368	375	0.84013	.;Tripartite DENN domain, FNIP1/2-type;Tripartite DENN domain, FNIP1/2-type;Tripartite DENN domain, FNIP1/2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1481.98	33	chr5	131671732	.	G	C	1481.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=819;ExcessHet=0.0000;FS=1.422;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=0.305;SOR=0.863	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1066	20	0	1	0
chr5	131704262	131704262	T	C	exonic	FNIP1	.	nonsynonymous SNV	FNIP1:NM_001008738:exon9:c.A835G:p.I279V	.	.	491	1026	5	0	0	5	0.00243072	.	.	2099442	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.32	T	0.0	B	0.001	B	.	.	1.000	N	0	N	2.82	T	-0.984	T	0.025	T	0.091	1.550	11.14	0.641	0.101	0.708	9.972	0.069	.	7.7e-05	0.0107827	0.0055	0.0001	0	0.0005	0	6.167e-05	0.0011	0.0389	0.0047218	730	154602	rs146451891	0.0024	0.0024	0.0013	0.0036	0.0410	0.0023	0.0023	0.0399	0.0394	3.173e-05	0	0	7.634e-05	0	0.0009	3.64e-05	0.0023	0.0410	0.0014	0.0014	0.0007	0.0020	0.0416	0.0012	0.0011	0.0369	0.0351	4.81e-05	0	0	0	0.0002	0	0	4.411e-05	0	0.0416	0.343	0.13436	T	0.447	0.14200	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	-0.92	0.01311	N	2.81	0.21666	T	0.39	0.03579	N	0.065	0.06990	-0.9836	0.34164	T	0.025	0.10733	T	9	0.0022690296	0.00033	T	.	.	.	0.069	0.20116	.	.	0.043077524339	0.03247	0.20449545504909883	0.20366	0.350778720902	0.36924	.	.	.	0.002333	0.05383	T	-0.663512	0.00060	T	-0.693731	0.06175	T	0.0131143782516074	0.00230	T	0.728327	0.34315	T	0.027675249	0.01993	0.050592557	0.07971	0.027675249	0.01993	0.050592557	0.07971	-3.53	0.18847	T	.	.	0.052	0.00216	B	.;.;.;.;.	.;.;.;.;.	0.689603	0.10580	7.288	0.93205522013343656	0.22876	0.65885	0.32888	D	AEFDBI	0.082371	0.16678	N	-0.582490460457593	0.19476	1.019651	-0.409302167722832	0.24723	1.35551	0.604781915727604	0.21756	0.651	0.46895	0	0.708844	0.79440	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	5.75	0.641	0.16930	0.723000	0.25609	-0.725000	0.07688	0.665000	0.62972	0.862000	0.30648	0.022000	0.20871	0.999000	0.91618	0.0:0.3323:0.0:0.6677	9.972	0.40927	379	0.83778	.;Tripartite DENN domain, FNIP1/2-type;Tripartite DENN domain, FNIP1/2-type;Tripartite DENN domain, FNIP1/2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	642.98	39	chr5	131704262	.	T	C	642.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=684;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.36;ReadPosRankSum=0.449;SOR=0.857	GT:AD:DP:GQ:PL	0/0:20,0:20:42:0,42,630	20	0	1	0
chr5	131879048	131879048	T	C	exonic	MEIKIN	.	nonsynonymous SNV	MEIKIN:NM_001303622:exon9:c.A704G:p.D235G,	.	.	588	927	7	0	0	7	0.00376142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	.	.	.	.	.	.	.	.	0.0004204	65	154602	rs142637902	0.0025	0.0010	0.0023	0.0027	0.0109	0.0024	0.0023	0.0066	0.0053	0.0006	0.0011	0.0100	0	0.0003	0.0109	0.0028	0.0032	0.0007	0.0019	0.0019	0.0019	0.0018	0.0025	0.0017	0.0016	0.0022	0.0021	0.0004	0	0.0014	0.0153	0	0.0002	0	0.0025	0.0043	0.0015	.	.	.	0.198	0.46632	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.17140	.	.	.	.	.	.	.	0.008296341	0.00188	T	.	.	.	.	.	.	.	0.791150215051	0.78921	0.06455478121640815	0.06394	.	.	.	.	.	0.029936	0.21334	T	-0.464666	0.00919	T	-0.445164	0.28232	T	.	.	.	0.60264	0.22576	T	0.08078398	0.18528	0.20747592	0.45008	0.08078398	0.18528	0.20747592	0.45007	-3.549	0.17125	T	.	.	0.096	0.15296	B	.;.	.;.	2.286476	0.29245	18.06	0.86861445147880934	0.16823	0.44764	0.27390	N	AEFI	.	.	.	.	.	.	.	.	.	1.16063985038244E-4	0.05269	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.111282	0.23731	3.63	1.25	0.20475	0.845000	0.27321	1.300000	0.25468	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.2407:0.0:0.7593	5.148	0.14322	488	0.76887	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	863.98	33	chr5	131879048	.	T	C	863.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.218e+00;DP=748;ExcessHet=0.0000;FS=3.098;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=0.672;SOR=0.414	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,981	20	0	1	0
chr5	132331835	132331835	T	A	exonic	SLC22A4	.	nonsynonymous SNV	SLC22A4:NM_003059:exon6:c.T1031A:p.M344K,	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.773	P	0.449	P	0.000	D	1.000	D	2.045	M	-0.83	T	-0.136	T	0.417	T	0.945	3.090	16.32	5.86	2.237	6.144	16.237	0.741	.	.	0.00239617	0.0010	0	0	0.0001	0	0	0	0.0073	0.0008797	136	154602	rs567645504	0.0004	0.0004	0.0002	0.0006	0.0064	0.0004	0.0004	0.0060	0.0058	2.997e-05	0	0	0	0	0	9.043e-07	0.0003	0.0064	0.0003	0.0003	0.0001	0.0005	0.0095	0.0002	0.0002	0.0073	0.0066	0	0	0	0	0.0002	0	0	0	0	0.0095	0.001	0.78490	D	0.008	0.67890	D	0.773	0.44016	P	0.449	0.46066	P	0.000049	0.53742	D	0.219363	0.999972	0.53665	D	2.255	0.64187	M	-0.83	0.74159	T	-4.48	0.77965	D	0.838	0.83371	-0.1362	0.79257	T	0.417	0.76347	T	10	0.033766598	0.01562	T	.	.	.	0.741	0.91026	0.794	0.91511	0.894952215399	0.89391	0.7926896628803942	0.79221	0.373947390385	0.38853	0.59773671627	0.52585	T	0.340913	0.70988	T	0.0285392	0.55529	T	0.271386	0.86648	D	0.237921348022358	0.22323	T	0.881012	0.60027	D	0.96043354	0.97324	0.87815297	0.93433	0.96043354	0.97324	0.87815297	0.93433	-11.908	0.84399	D	.	.	0.370	0.57823	A	.	.	4.473649	0.69731	25.4	0.97994513219571855	0.37431	0.97811	0.77307	D	AEFBI	0.708927	0.66318	D	0.420770240595015	0.62566	4.474494	0.443836844457664	0.64322	4.684738	0.999999916683625	0.74766	0.651	0.46895	0	0.573888	0.26702	0	0.618467	0.43123	0	0.683762	0.67416	0	.	.	5.86	5.86	0.93936	6.389000	0.73129	6.150000	0.54181	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.755000	0.35964	0.0:0.0:0.0:1.0	16.237	0.82202	452	0.79239	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1307.98	34	chr5	132331835	.	T	A	1307.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.514;DP=802;ExcessHet=0.0000;FS=3.720;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=1.58;SOR=0.401	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1362	20	0	1	0
chr5	132575843	132575843	A	C	exonic	RAD50	.	nonsynonymous SNV	RAD50:NM_005732:exon3:c.A280C:p.I94L,	Nijmegen breakage syndrome-like disorder	YES	9	1496	15	2	0	19	0.0063102	.	.	133469	not_provided|Nijmegen_breakage_syndrome-like_disorder|Hereditary_cancer-predisposing_syndrome|not_specified|Familial_cancer_of_breast	MedGen:C3661900|MONDO:MONDO:0013118,MedGen:C2751318,OMIM:613078,Orphanet:240760|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.46	T	0.0	B	0.003	B	0.154	N	1.000	D	0.49	N	3.34	T	-0.943	T	0.006	T	0.223	2.868	15.56	-10.2	-1.969	-0.039	11.719	0.071	0.00370107637619	0.0035	0.00359425	0.0035	0.0005	0.0027	0.0005	0.0021	0.0038	0.0033	0.0067	0.0036416	563	154602	rs28903085	0.0046	0.0046	0.0046	0.0046	0.0064	0.0045	0.0044	0.0051	0.0050	0.0008	0.0027	0.0051	7.572e-05	0.0010	0.0064	0.0050	0.0044	0.0055	0.0032	0.0032	0.0033	0.0031	0.0050	0.0029	0.0029	0.0045	0.0044	0.0009	0	0.0029	0.0058	0	0.0006	0.0204	0.0050	0.0038	0.0050	0.355	0.12109	T	0.231	0.25061	T	0.0	0.02946	B	0.003	0.08700	B	0.154400	0.17862	N	0.624374	1	0.81001	D	0.705	0.18577	N	3.34	0.06063	T	-1.12	0.28906	N	0.173	0.18512	-0.9428	0.42169	T	0.006	0.01944	T	10	0.0056197047	0.00125	T	0.003701	0.08558	T	0.071	0.20720	0.479	0.55823	0.225215365344	0.22153	0.4625633739563243	0.46174	.	.	0.303806602955	0.10971	T	0.062857	0.32026	T	-0.591207	0.00165	T	-0.618975	0.11265	T	0.003923648792296	0.00042	T	0.712729	0.32446	T	0.069781214	0.15317	0.052480403	0.08654	0.060842693	0.12531	0.061767086	0.11978	-4.37	0.29147	T	0.14829878222634302	0.17253	0.069	0.06617	B	.;.	.;.	0.216433	0.05992	2.434	0.85440592474170685	0.15894	0.13966	0.18150	N	AEFGBI	0.161992	0.28812	N	-1.43382704564989	0.02347	0.103534	-1.46262742958979	0.02658	0.1226273	0.964669951324794	0.28776	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.75	-10.2	0.00305	-0.012000	0.12637	-0.471000	0.08978	-0.562000	0.04833	0.026000	0.20160	0.000000	0.08366	0.981000	0.58702	0.1954:0.0:0.6292:0.1754	11.719	0.50934	820	0.40914	Rad50/SbcC-type AAA domain;Rad50/SbcC-type AAA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	858.98	34	chr5	132575843	.	A	C	858.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.766;DP=757;ExcessHet=0.0000;FS=3.203;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=-1.410e-01;SOR=0.405	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1086	20	0	1	0
chr5	132575868	132575868	G	A	exonic	RAD50	.	nonsynonymous SNV	RAD50:NM_005732:exon3:c.G305A:p.C102Y,	Nijmegen breakage syndrome-like disorder	YES	.	.	.	.	.	.	.	.	.	564572	Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.939	D	0.000	D	1.000	D	1.7	L	2.61	T	-1.041	T	0.124	T	0.897	4.218	21.9	5.76	2.715	7.475	18.946	0.475	0.0205504652881	.	0.000199681	3.304e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs573712823	1.99e-05	2.052e-05	1.23e-05	2.758e-05	0.0003	1.396e-05	1.207e-05	0.0002	0.0002	0	0	0	0	0	0.0002	0	3.321e-05	0.0003	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.002	0.72154	D	0.003	0.76473	D	0.997	0.70673	D	0.939	0.67449	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.35	0.67516	M	1.98	0.21865	T	-3.88	0.72710	D	0.722	0.72388	-1.0410	0.17011	T	0.124	0.42715	T	10	0.6001303	0.66865	D	0.02055	0.43168	T	0.475	0.76751	0.404	0.43573	0.854204203725	0.85280	0.7358494702544691	0.73529	.	.	0.776564061642	0.78410	T	0.110751	0.52420	T	0.0158401	0.53819	T	0.106943	0.77370	D	0.70321661233902	0.40872	D	0.886111	0.86917	D	0.81893736	0.85148	0.8640453	0.92456	0.81893736	0.85150	0.8640453	0.92456	-8.345	0.63398	D	0.8010275908832474	0.87778	0.787	0.81629	P	.;.;.;.;.;.	.;.;.;.;.;.	5.342080	0.89632	31	0.99763584978778308	0.85254	0.98051	0.79185	D	AEFGBI	0.891862	0.82824	D	0.775092347477602	0.84525	8.312426	0.787114375133847	0.88883	9.752742	0.999788040302371	0.43007	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.76	5.76	0.90726	7.598000	0.82000	11.524000	0.93058	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.946	0.92596	821	0.40814	.;.;.;.;Rad50/SbcC-type AAA domain;Rad50/SbcC-type AAA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	987.98	34	chr5	132575868	.	G	A	987.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.674e+00;DP=774;ExcessHet=0.0000;FS=1.868;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=-2.340e-01;SOR=0.572	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1086	20	0	1	0
chr5	132579330	132579330	G	A	exonic	RAD50	.	nonsynonymous SNV	RAD50:NM_005732:exon4:c.G379A:p.V127I,	Nijmegen breakage syndrome-like disorder	.	3	1500	18	1	0	20	0.00662252	.	.	133480	not_provided|Nijmegen_breakage_syndrome-like_disorder|Hereditary_cancer-predisposing_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0013118,MedGen:C2751318,OMIM:613078,Orphanet:240760|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.15	T	0.999	D	0.978	D	0.000	D	1.000	D	1.425	L	2.56	T	-1.107	T	0.116	T	0.274	3.937	20.1	5.69	2.683	4.793	18.801	0.142	0.0138887376583	0.0018	0.000399361	0.0017	0.0003	0.0009	0.0001	0	0.0027	0.0022	0.0004	0.0015394	238	154602	rs28903086	0.0013	0.0013	0.0013	0.0014	0.0075	0.0013	0.0013	0.0057	0.0051	0.0002	0.0012	0.0098	2.521e-05	0.0001	0.0075	0.0013	0.0021	0.0006	0.0015	0.0015	0.0012	0.0017	0.0040	0.0013	0.0012	0.0032	0.0029	0.0002	0	0.0040	0.0107	0	0	0.0136	0.0016	0.0014	0.0004	0.251	0.37750	T	0.198	0.43159	T	0.999	0.77913	D	0.978	0.74104	D	0.000008	0.62929	D	0.107793	0.999927	0.81001	D	1.785	0.46417	L	1.97	0.22067	T	-0.85	0.23156	N	0.273	0.30914	-1.1075	0.03293	T	0.116	0.41008	T	10	0.009372592	0.00212	T	0.013889	0.33629	T	0.142	0.37995	.	.	0.603090222555	0.59992	0.3234470342466072	0.32257	.	.	0.512988805771	0.40641	T	0.022545	0.29965	T	-0.452504	0.01092	T	-0.429243	0.30020	T	0.0351086830079902	0.02827	T	0.89781	0.78426	D	0.2301101	0.45760	0.21668446	0.46305	0.2301101	0.45760	0.21668446	0.46304	-5.559	0.42416	T	0.3448653139655321	0.44242	0.093	0.14015	B	.;.;.;.;.;.	.;.;.;.;.;.	3.165794	0.42909	21.6	0.99752672536328513	0.84382	0.96551	0.69706	D	AEFBI	0.455965	0.50803	N	0.656899531823253	0.76816	6.556754	0.676887313599939	0.80628	7.341078	0.62270337508391	0.21899	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.69	5.69	0.88346	4.896000	0.62911	4.411000	0.43281	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.801	0.91984	816	0.41767	.;.;.;.;Rad50/SbcC-type AAA domain;Rad50/SbcC-type AAA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	1389.98	33	chr5	132579330	.	G	A	1389.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=792;ExcessHet=0.0000;FS=2.728;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=0.572;SOR=1.041	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1170	20	0	1	0
chr5	132579896	132579896	C	T	exonic	RAD50	.	nonsynonymous SNV	RAD50:NM_005732:exon5:c.C586T:p.R196C,	Nijmegen breakage syndrome-like disorder	.	7	1514	1	0	0	1	0.000330142	.	.	182519	not_provided|Nijmegen_breakage_syndrome-like_disorder|Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome	MedGen:C3661900|MONDO:MONDO:0013118,MedGen:C2751318,OMIM:613078,Orphanet:240760|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.78	M	3.23	T	-0.572	T	0.244	T	0.884	4.376	23.1	5.54	2.764	4.363	18.830	0.335	0.101988208281	.	.	8.319e-06	0	0	0	0	1.512e-05	0	0	6.5e-06	1	154602	rs769853458	1.369e-05	1.437e-05	1.09e-05	1.651e-05	0.0007	8.94e-06	7.27e-06	0.0002	0.0001	0	0	0	2.524e-05	0	0.0007	1.35e-05	0	0	6.578e-06	6.568e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.055	0.86842	M	1.54	0.30133	T	-5.48	0.85692	D	0.822	0.81758	-0.5717	0.65947	T	0.244	0.61213	T	10	0.74367696	0.75135	D	0.101988	0.77519	D	0.335	0.65718	0.515	0.61459	0.747146340571	0.74486	0.6780266316933803	0.67741	.	.	0.718128204346	0.69773	T	0.155499	0.61441	T	0.23005	0.76726	D	0.108161	0.77450	D	0.995919406414032	0.88308	D	0.967103	0.88280	D	0.83663183	0.86368	0.703392	0.82518	0.83663183	0.86370	0.703392	0.82519	-8.179	0.62283	D	0.9005629068297026	0.95217	0.503	0.77190	A	.;.;.;.;.;.	.;.;.;.;.;.	5.678890	0.92986	33	0.99932535016393764	0.99439	0.96975	0.71971	D	AEFBI	0.742037	0.68578	D	0.841132401153759	0.88597	9.638584	0.797518072519191	0.89620	10.051	0.999326144949049	0.39149	0.732398	0.92422	0	0.653731	0.59785	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.54	5.54	0.82907	4.406000	0.59506	7.535000	0.59982	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.830	0.92103	824	0.40336	.;.;.;.;Rad50/SbcC-type AAA domain;Rad50/SbcC-type AAA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	593.98	60	chr5	132579896	.	C	T	593.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=762;ExcessHet=0.0000;FS=8.323;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.90;ReadPosRankSum=-3.350e-01;SOR=1.981	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1093	20	0	1	0
chr5	132603440	132603440	A	G	exonic	RAD50	.	nonsynonymous SNV	RAD50:NM_005732:exon14:c.A2348G:p.E783G,	Nijmegen breakage syndrome-like disorder	.	.	.	.	.	.	.	.	.	.	152207	Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	0.996	D	0.883	P	0.000	D	1.000	D	0.975	L	3.6	T	-1.123	T	0.034	T	0.71	4.627	25.3	5.16	2.077	8.944	15.301	0.291	0.00599465479304	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374550615	7.526e-06	7.524e-06	5.446e-06	9.627e-06	0.0002	4.04e-06	2.95e-06	3.81e-06	2.76e-06	0	0	0	0	0	0.0002	8.094e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.45318	T	0.996	0.68779	D	0.883	0.62698	P	0.000000	0.84330	D	0.051486	1	0.81001	D	1.935	0.51832	L	.	.	.	.	.	.	0.728	0.72925	-1.1234	0.02127	T	0.034	0.14552	T	10	0.64749825	0.69411	D	0.005995	0.15638	T	0.291	0.61040	.	.	0.698509492642	0.69590	0.2630429116726125	0.26217	.	.	0.518446564674	0.41407	T	0.322394	0.69341	T	0.221623	0.75929	D	0.0805698	0.75615	D	0.936691701412201	0.60589	D	0.825317	0.48765	T	0.26030654	0.49087	0.31124777	0.57132	0.26030654	0.49087	0.31124777	0.57131	-6.287	0.48619	T	0.3079365990184664	0.40570	0.128	0.27373	B	.;.;.;.	.;.;.;.	4.209821	0.63596	24.6	0.99929517713596949	0.99279	0.99062	0.90669	D	AEFBI	0.910600	0.86873	D	0.626936297376999	0.74884	6.209182	0.656036641075826	0.79062	7.003457	0.999999990051678	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.16	5.16	0.70563	8.676000	0.90929	9.278000	0.79691	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.301	0.73652	834	0.38640	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	898.98	34	chr5	132603440	.	A	G	898.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.562e+00;DP=779;ExcessHet=0.0000;FS=2.730;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.56;ReadPosRankSum=0.015;SOR=0.529	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1118	20	0	1	0
chr5	132603986	132603986	G	C	exonic	RAD50	.	nonsynonymous SNV	RAD50:NM_005732:exon15:c.G2464C:p.D822H,	Nijmegen breakage syndrome-like disorder	.	.	.	.	.	.	.	.	.	.	152208	Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.001	B	0.003	B	0.019	N	0.994	N	0.695	N	2.12	T	-1.030	T	0.029	T	0.166	1.708	11.67	1.78	0.044	2.456	5.826	0.021	0.00228876179948	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs587782501	5.475e-06	5.472e-06	5.448e-06	5.503e-06	0.0002	2.36e-06	1.7e-06	2.62e-06	1.68e-06	0	0	0	0	0	0.0002	6.298e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.41239	T	0.001	0.07471	B	0.003	0.08700	B	0.018534	0.27462	N	0.444430	0.998705	0.23691	N	1.39	0.34934	L	.	.	.	.	.	.	0.212	0.23632	-1.0304	0.20325	T	0.029	0.12409	T	10	0.11068222	0.20698	T	0.002289	0.04397	T	0.021	0.04004	0.415	0.45380	0.443999229985	0.44019	0.26529107436185095	0.26442	.	.	0.365473985672	0.20180	T	0.143182	0.47916	T	-0.130523	0.31413	T	-0.425263	0.30473	T	0.256202459335327	0.23148	T	0.827017	0.49049	T	0.036515236	0.04506	0.07757694	0.17296	0.036515236	0.04506	0.07757694	0.17296	-5.522	0.42073	T	0.3779003437927019	0.47268	0.140	0.30765	B	.;.;.;.	.;.;.;.	3.011011	0.40265	21.1	0.95105397780120438	0.26185	0.83094	0.42241	D	AEFDBCI	0.330173	0.43029	N	-0.52541795849528	0.21260	1.126994	-0.365345658435262	0.26038	1.435722	0.99991048555616	0.45857	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.67	1.78	0.23918	2.480000	0.44865	3.909000	0.40397	-0.153000	0.12021	0.983000	0.35670	1.000000	0.68203	0.982000	0.59238	0.3725:0.1281:0.4994:0.0	5.826	0.17808	832	0.38914	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1480.98	41	chr5	132603986	.	G	C	1480.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.600e-02;DP=824;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=0.057;SOR=0.682	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1026	20	0	1	0
chr5	132660267	132660267	G	T	exonic	IL13	.	nonsynonymous SNV	IL13:NM_002188:exon4:c.G426T:p.E142D	.	.	423	1096	2	1	0	4	0.00182149	.	.	3274824	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.001	B	0.013	N	1.000	N	-0.205	N	0.98	T	-1.047	T	0.044	T	0.133	0.923	8.757	-8.72	-2.032	-3.401	10.314	0.018	0.00141498857204	.	.	7.421e-05	0	0	0	0	1.5e-05	0	0.0005	5.82e-05	9	154602	rs200247901	5.61e-05	5.678e-05	3.267e-05	7.976e-05	0.0006	4.61e-05	4.237e-05	0.0005	0.0004	0	2.237e-05	0	0	0	0.0003	1.079e-05	0.0002	0.0006	3.283e-05	3.281e-05	2.57e-05	4.027e-05	0.0004	1.26e-05	7.97e-06	7.287e-05	3.028e-05	0	0	0	0	0	0	0	4.41e-05	0	0.0004	0.263	0.16412	T	0.375	0.16231	T	.	.	.	.	.	.	0.012853	0.01347	N	2.726190	1	0.08975	N	.	.	.	0.98	0.42122	T	-0.66	0.19085	N	0.046	0.01825	-1.0474	0.15130	T	0.044	0.18989	T	10	0.018843383	0.00414	T	0.001415	0.02088	T	0.018	0.03083	0.156	0.05964	0.0846915920261	0.08053	0.091215448853235	0.09054	0.122369866137	0.13789	0.326947391033	0.14472	T	.	.	.	-0.549821	0.00292	T	-0.699596	0.05848	T	0.10210024667692	0.12587	T	0.291871	0.05342	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.25946	B	.;.	.;.	-2.629487	0.00023	0.001	0.8178646808605653	0.13859	0.01197	0.04272	N	AEFGBCI	0.021014	0.00891	N	-1.86363704774965	0.00407	0.01751439	-1.94980623946328	0.00389	0.01719712	0.999999986970048	0.74766	0.428477	0.06694	0	0.587068	0.34093	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.36	-8.72	0.00731	-3.377000	0.00546	-20.000000	0.00162	-0.392000	0.05338	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6277:0.2182:0.1541	10.314	0.42907	882	0.29131	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1513.98	61	chr5	132660267	.	G	T	1513.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=1167;ExcessHet=0.0000;FS=1.456;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.72;ReadPosRankSum=0.590;SOR=0.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,120,1800	20	0	1	0
chr5	132761515	132761515	C	T	exonic	SEPTIN8	.	nonsynonymous SNV	SEPTIN8:NM_001098811:exon7:c.G905A:p.R302H	.	.	430	1082	10	0	0	10	0.00459982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	1.0	D	1.0	D	0.000	D	1.000	D	2.61	M	-1.69	D	0.284	D	0.632	D	0.636	5.180	32	4.41	1.227	7.792	14.064	0.654	.	0.0056	0.00199681	0.0054	0.0011	0.0035	0	0.0110	0.0063	0.0077	0.0060	0.0052263	808	154602	rs138928263	0.0066	0.0066	0.0066	0.0067	0.0073	0.0065	0.0065	0.0071	0.0071	0.0007	0.0021	0.0012	0.0001	0.0106	0.0028	0.0073	0.0045	0.0072	0.0050	0.0050	0.0047	0.0054	0.0076	0.0047	0.0046	0.0071	0.0069	0.0012	0.0011	0.0033	0.0012	0	0.0113	0	0.0076	0.0024	0.0039	0.005	0.63226	D	0.226	0.36630	T	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.054447	1	0.81001	D	2.475	0.71894	M	-1.69	0.82985	D	-3.9	0.72932	D	0.829	0.85766	0.284	0.87299	D	0.632	0.87110	D	10	0.013727725	0.00290	T	.	.	.	0.654	0.86986	.	.	0.7881921855	0.78623	0.6170169416498961	0.61633	1.30319291538	0.83068	0.805696189404	0.82831	D	0.244102	0.61316	T	-0.140127	0.29869	T	0.0324803	0.72439	D	0.0132112862283915	0.00235	T	0.971203	0.89615	D	0.58278745	0.71760	0.3514599	0.60739	0.58278745	0.71762	0.3514599	0.60739	-12.34	0.87739	D	.	.	0.350	0.60139	A	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.712119	0.93176	33	0.99952299636929642	0.99951	0.96631	0.70114	D	AEFGBCI	0.939655	0.94054	D	0.679638908470738	0.78297	6.843471	0.630852866548523	0.77193	6.632203	0.999999999999594	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.28	4.41	0.52588	7.879000	0.85694	7.676000	0.65050	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9271:0.0:0.0729	14.064	0.64338	900	0.24599	Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;.;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;.;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;.;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;.	.	.	.	.	rs138928263	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2779.98	41	chr5	132761515	.	C	T	2779.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=992;ExcessHet=0.0000;FS=3.210;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=-7.800e-01;SOR=0.557	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr5	132814178	132814178	G	A	exonic	SOWAHA	.	nonsynonymous SNV	SOWAHA:NM_175873:exon1:c.G557A:p.R186K,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	0.002	B	0.001	B	0.001	U	1.000	N	1.15	L	2.05	T	-1.064	T	0.031	T	0.148	1.232	9.997	-0.874	-0.282	0.028	0.876	0.026	0.00777471961488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456	0.08839	T	0.657	0.06576	T	.	.	.	.	.	.	0.000796	0.00685	U	9.779040	1	0.08975	N	.	.	.	2.05	0.20664	T	-0.65	0.18877	N	0.037	0.01135	-1.0639	0.10807	T	0.031	0.13286	T	10	0.06249684	0.07998	T	0.007775	0.20616	T	0.026	0.05648	0.344	0.33788	0.0297737177859	0.01360	0.37903125344534067	0.37818	.	.	0.727076292038	0.71079	T	.	.	.	-0.298778	0.08775	T	-0.666951	0.07805	T	0.0634735964165042	0.07703	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.20352	B	.	.	0.525719	0.08943	5.726	0.75008202679384317	0.10910	0.09740	0.15427	N	AEFDBCI	0.173285	0.30036	N	-1.23804585975366	0.04460	0.2013095	-1.28027248450781	0.04697	0.2221811	0.989155397862193	0.31739	0.437478	0.07067	0	0.475579	0.06741	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.34	-0.874	0.10093	-1.739000	0.01939	-0.232000	0.10668	0.489000	0.22316	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2677:0.3108:0.2632:0.1583	0.876	0.01146	892	0.26670	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	475.98	36	chr5	132814178	.	G	A	475.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.38;DP=775;ExcessHet=0.0000;FS=4.561;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=0.203;SOR=1.025	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,106,1148	20	0	1	0
chr5	132826007	132826007	G	T	exonic	SHROOM1	.	nonsynonymous SNV	SHROOM1:NM_133456:exon1:c.C134A:p.P45Q	.	.	408	1090	24	0	0	24	0.0108893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.58	P	0.274	B	0.074	N	0.998	N	0.805	L	1.59	T	-1.065	T	0.049	T	0.122	2.392	13.96	2.15	1.032	1.013	8.450	0.025	.	0.0027	0.00299521	0.0125	0.0066	0.0489	0	0	0.0165	0.0183	0.0017	0.0035705	552	154602	rs143556262	0.0043	0.0044	0.0043	0.0044	0.0303	0.0042	0.0042	0.0266	0.0252	0.0028	0.0081	0.0195	3.022e-05	0.0002	0.0303	0.0042	0.0069	0.0010	0.0054	0.0054	0.0054	0.0054	0.0123	0.0051	0.0050	0.0109	0.0104	0.0032	0.0844	0.0123	0.0228	0.0002	9.413e-05	0.0170	0.0046	0.0128	0.0008	0.004	0.65419	D	0.038	0.52727	D	0.445	0.38813	B	0.086	0.40037	B	0.073608	0.21335	N	0.450054	0.997853	0.22475	N	1.24	0.30952	L	1.59	0.28836	T	-1.0	0.36189	N	0.15	0.15749	-1.0651	0.10526	T	0.049	0.21065	T	10	0.0021722615	0.00031	T	.	.	.	0.025	0.05312	.	.	0.390687800842	0.38684	0.2563370100434633	0.25547	1.85053627727	0.92283	0.62879884243	0.56974	T	0.015441	0.16816	T	-0.58936	0.00169	T	-0.607675	0.12174	T	0.0175188138830554	0.00487	T	0.555444	0.19458	T	0.07915242	0.18067	0.05722803	0.10366	0.07915242	0.18067	0.05722803	0.10366	-5.289	0.39913	T	.	.	0.085	0.17103	B	.;.;.;.;.	.;.;.;.;.	2.464583	0.31755	18.84	0.98180467203916133	0.38941	0.61743	0.31574	D	AEFDBCI	0.158046	0.28365	N	-0.499384681410579	0.22101	1.177747	-0.459099150949242	0.23290	1.269379	0.99997135325885	0.50053	0.685219	0.55550	0	0.748881	0.99253	0	0.674405	0.61402	0	0.699875	0.68795	0	.	.	4.18	2.15	0.26590	0.175000	0.16577	1.431000	0.26447	-0.148000	0.12190	0.002000	0.15269	0.930000	0.28522	0.032000	0.13371	0.0:0.0:0.5755:0.4245	8.450	0.32028	909	0.22467	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1443.98	33	chr5	132826007	.	G	T	1443.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.800e-02;DP=853;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.86;ReadPosRankSum=-9.640e-01;SOR=0.723	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1272	20	0	1	0
chr5	132861866	132861866	C	T	exonic	GDF9	.	nonsynonymous SNV	GDF9:NM_005260:exon2:c.G1088A:p.S363N	.	.	.	.	.	.	.	.	.	.	.	3258112	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.975	D	0.000	N	0.998	D	1.1	L	-2.45	D	0.429	D	0.706	D	0.108	4.079	21.0	4.37	0.949	3.072	12.594	0.490	0.0433199206454	0.0003	0.000199681	0.0005	0	0	0	0.0003	0.0007	0	0.0008	0.0004334	67	154602	rs61758975	0.0005	0.0005	0.0005	0.0005	0.0007	0.0005	0.0005	0.0006	0.0005	2.987e-05	0.0002	0	0	0.0007	0	0.0005	0.0005	0.0007	0.0003	0.0003	0.0003	0.0004	0.0006	0.0003	0.0002	0.0004	0.0004	4.811e-05	0	0.0001	0	0	0.0005	0	0.0006	0.0005	0.0004	0.035	0.43708	D	0.027	0.55341	D	1.0	0.90584	D	0.975	0.73362	D	0.000001	0.84330	N	0.156388	0.998085	0.44492	D	0.93	0.23535	L	-2.45	0.88847	D	-1.35	0.33598	N	0.189	0.20793	0.429	0.89522	D	0.706	0.89871	D	10	0.15435544	0.29116	T	0.04332	0.60920	D	0.490	0.77720	.	.	0.969329858673	0.96899	0.6320052116204505	0.63134	0.118513868032	0.13345	0.53836119175	0.44214	T	0.660926	0.89823	D	-0.322226	0.06717	T	-0.333039	0.41130	T	0.142301127314568	0.16471	T	0.653935	0.27137	T	0.3210494	0.54728	0.28202578	0.54188	0.3127713	0.54025	0.24741174	0.50269	-6.556	0.50716	T	.	.	0.161	0.43130	B	.;.;.;.;.	.;.;.;.;.	3.450334	0.48039	22.6	0.99418855473315582	0.63645	0.92892	0.56803	D	AEFDBI	0.489381	0.52731	N	0.444055675200235	0.63867	4.628875	0.450408218853005	0.64743	4.736636	0.999999238652763	0.74766	0.549168	0.22868	0	0.593476	0.48661	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	6.13	4.37	0.51830	3.132000	0.50218	3.258000	0.37072	-0.178000	0.10482	1.000000	0.71638	0.997000	0.33255	0.982000	0.59238	0.0:0.8662:0.0:0.1338	12.594	0.55813	909	0.22467	Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal;Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal;Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal;Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal;Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2122.98	33	chr5	132861866	.	C	T	2122.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.355;DP=892;ExcessHet=0.0000;FS=8.558;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-6.370e-01;SOR=0.486	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1203	20	0	1	0
chr5	132861983	132861983	A	C	exonic	GDF9	.	nonsynonymous SNV	GDF9:NM_005260:exon2:c.T971G:p.V324G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.002	B	0.003	B	0.150	N	1.000	N	1.845	L	-1.33	T	-0.922	T	0.363	T	0.058	2.165	13.20	-1.6	-0.085	-0.572	4.729	0.166	0.0106358426687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.16466	T	0.432	0.14075	T	0.002	0.09854	B	0.003	0.08700	B	0.150494	0.02958	N	1.562250	1	0.08975	N	1.385	0.34509	L	-1.33	0.79854	T	-1.03	0.27052	N	0.121	0.11483	-0.9223	0.45238	T	0.363	0.72415	T	10	0.09443137	0.16789	T	0.010636	0.27409	T	0.166	0.42578	0.292	0.25400	0.64471023102	0.64176	0.508826709791671	0.50804	0.0441823419456	0.04759	0.281662344933	0.07725	T	0.281835	0.65457	T	-0.208574	0.19580	T	-0.537378	0.18555	T	0.10349964350462	0.12738	T	0.438556	0.12115	T	0.06340477	0.13347	0.054597985	0.09422	0.06340477	0.13347	0.054597985	0.09421	-2.517	0.05898	T	.	.	0.082	0.09288	B	.;.;.;.;.	.;.;.;.;.	0.007831	0.04336	1.104	0.86156078967266858	0.16350	0.10712	0.16140	N	AEFBI	0.168619	0.29539	N	-1.02155332311184	0.08158	0.3815017	-1.04433652126651	0.08826	0.4358424	0.999682901908991	0.41756	0.554377	0.28877	0	0.588066	0.40923	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	5.4	-1.6	0.07977	-0.573000	0.05966	-0.169000	0.11245	-0.054000	0.16847	0.000000	0.06391	0.000000	0.08366	0.957000	0.51019	0.4035:0.3315:0.265:0.0	4.729	0.12334	909	0.22467	Transforming growth factor-beta, C-terminal;Transforming growth factor-beta, C-terminal;Transforming growth factor-beta, C-terminal;Transforming growth factor-beta, C-terminal;Transforming growth factor-beta, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1542.98	33	chr5	132861983	.	A	C	1542.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=843;ExcessHet=0.0000;FS=1.379;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=-2.950e-01;SOR=0.577	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1203	20	0	1	0
chr5	132864353	132864353	G	C	exonic	GDF9	.	nonsynonymous SNV	GDF9:NM_005260:exon1:c.C181G:p.L61V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.9	P	0.343	B	0.004	N	1.000	N	2.52	M	0.19	T	-0.826	T	0.190	T	0.072	2.169	13.21	3.18	0.380	2.346	6.399	0.148	0.0193298004431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.099	0.38891	T	0.9	0.49598	P	0.343	0.42509	B	0.003935	0.34318	N	0.311977	0.999995	0.08975	N	2.42	0.70002	M	0.19	0.60236	T	-0.72	0.20358	N	0.157	0.16308	-0.8257	0.53575	T	0.190	0.54108	T	10	0.2955783	0.47126	T	0.01933	0.41663	T	0.148	0.39182	0.377	0.39156	0.708705863831	0.70616	0.19792167272459063	0.19709	0.0415351482305	0.04460	0.339318692684	0.16335	T	0.456861	0.79546	T	-0.199135	0.20931	T	-0.52382	0.19909	T	0.453734338283539	0.30934	T	0.566043	0.20025	T	0.07196072	0.15972	0.080344625	0.18168	0.07196072	0.15972	0.080344625	0.18167	-3.41	0.15191	T	.	.	0.077	0.06295	B	.	.	2.312643	0.29604	18.18	0.99155670109324467	0.53931	0.89090	0.49350	D	AEFDBI	0.238694	0.36078	N	0.0574970633272622	0.44489	2.721939	0.0374256184061307	0.41469	2.491804	0.99991686312002	0.45857	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.02	3.18	0.35615	2.648000	0.46313	4.521000	0.43687	-0.140000	0.12423	1.000000	0.71638	1.000000	0.68203	0.534000	0.29800	0.2177:0.1305:0.6517:0.0	6.399	0.20829	902	0.24074	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	95.45	33	chr5	132864353	.	G	C	95.45	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.919e+00;DP=1050;ExcessHet=0.3300;FS=217.816;InbreedingCoeff=-0.0678;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.32;ReadPosRankSum=1.30;SOR=8.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1178	18	0	3	0
chr5	133096099	133096099	C	T	exonic	HSPA4	.	nonsynonymous SNV	HSPA4:NM_002154:exon14:c.C1652T:p.T551I,	.	.	432	1088	2	0	0	2	0.000918274	0.6342	0.47	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.96	D	0.761	P	0.000	D	1.000	D	0.69	N	5.43	T	-0.229	T	0.006	T	0.642	2.638	14.78	4.95	2.454	7.175	18.551	0.219	0.0275625844065	7.7e-05	.	7.174e-05	0	9.376e-05	0	0	9.904e-05	0	6.479e-05	5.82e-05	9	154602	rs371677137	2.122e-05	2.121e-05	1.907e-05	2.34e-05	0.0002	1.521e-05	1.325e-05	8.88e-05	6.441e-05	0	0.0002	0	0	0	0	1.89e-05	1.658e-05	1.161e-05	1.972e-05	1.97e-05	2.57e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.321	0.13522	T	0.193	0.28210	T	0.96	0.55278	D	0.761	0.56482	P	0.000005	0.62929	D	0.104544	1	0.81001	D	1.87	0.49600	L	5.43	0.00989	T	-1.83	0.42957	N	0.664	0.67304	-0.2288	0.76919	T	0.006	0.02093	T	10	0.56289846	0.64888	D	0.027563	0.50355	D	0.219	0.51417	.	.	0.476378746412	0.47268	0.2630939058132301	0.26222	0.253094250479	0.27877	0.61678981781	0.55275	T	0.256077	0.62694	T	-0.206099	0.19932	T	-0.278777	0.46930	T	0.296826958656311	0.24872	T	0.792521	0.43410	T	0.18425302	0.39731	0.12510201	0.30147	0.18425302	0.39731	0.12510201	0.30146	-6.66	0.51508	T	.	.	0.191	0.49788	B	.;.	.;.	4.405906	0.68124	25.2	0.97624817252093887	0.34983	0.99754	0.99218	D	AEFGBI	0.926845	0.90860	D	0.478838654005102	0.65855	4.875348	0.527138648208567	0.69822	5.415597	0.999999997006253	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	4.95	4.95	0.64894	7.474000	0.80024	7.662000	0.64290	0.539000	0.25131	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:1.0:0.0:0.0	18.551	0.91016	842	0.36989	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	942.98	33	chr5	133096099	.	C	T	942.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.000e-03;DP=771;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.72;ReadPosRankSum=2.00;SOR=0.730	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1195	20	0	1	0
chr5	133101780	133101780	A	G	exonic	HSPA4	.	nonsynonymous SNV	HSPA4:NM_002154:exon17:c.A2059G:p.I687V,	.	.	433	1085	4	0	0	4	0.00183993	.	.	3274364	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.48	T	0.0	B	0.001	B	0.484	N	0.996	N	0.69	N	2.62	T	-0.970	T	0.022	T	0.067	1.294	10.23	2.68	0.873	2.897	3.574	0.047	0.00429408476786	0.0002	.	0.0004	0	0.0002	0	0	0.0007	0	0	0.0003558	55	154602	rs200858773	0.0003	0.0003	0.0003	0.0004	0.0007	0.0003	0.0003	0.0004	0.0003	8.99e-05	0.0003	0.0005	0	0.0001	0.0007	0.0004	0.0005	2.337e-05	0.0003	0.0003	0.0004	0.0003	0.0009	0.0003	0.0002	0.0006	0.0004	4.81e-05	0	0.0009	0	0	0.0002	0.0068	0.0004	0.0009	0.0002	0.298	0.14595	T	0.288	0.21277	T	0.0	0.02946	B	0.001	0.04355	B	0.484448	0.05000	N	1.231630	0.996137	0.23105	N	0.625	0.15840	N	2.62	0.12988	T	0.32	0.03955	N	0.1	0.17416	-0.9700	0.37200	T	0.022	0.09513	T	10	0.021812111	0.00530	T	0.004294	0.10404	T	0.047	0.12962	.	.	0.296721761885	0.29290	0.0868697372786833	0.08620	0.184394451327	0.20741	0.246679961681	0.03426	T	0.22447	0.58891	T	-0.606314	0.00133	T	-0.737619	0.03992	T	0.0162355157624331	0.00396	T	0.717128	0.32987	T	0.017138418	0.00249	0.023487143	0.00362	0.017138418	0.00249	0.023487143	0.00362	-3.25	0.13101	T	.	.	0.061	0.03773	B	.;.	.;.	2.361356	0.30291	18.39	0.89281969998733257	0.18663	0.65642	0.32806	D	AEFDBI	0.110406	0.21895	N	-0.607870241727748	0.18707	0.9733682	-0.435437486295416	0.23965	1.309725	0.153561891771939	0.17480	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.12	2.68	0.30839	2.974000	0.48964	4.693000	0.44374	-0.210000	0.08370	0.997000	0.40164	0.999000	0.35428	0.881000	0.42162	0.6528:0.0:0.1595:0.1877	3.574	0.07480	849	0.35778	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	900.98	37	chr5	133101780	.	A	G	900.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.900e-02;DP=809;ExcessHet=0.0000;FS=1.595;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.66;ReadPosRankSum=-8.660e-01;SOR=0.593	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1297	20	0	1	0
chr5	133225251	133225251	C	T	exonic	FSTL4	.	nonsynonymous SNV	FSTL4:NM_015082:exon10:c.G1211A:p.R404Q,	.	.	427	1088	5	2	0	9	0.00411899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	1.0	D	0.99	D	0.000	D	1.000	D	0.495	N	-0.15	T	-0.646	T	0.285	T	0.65	4.819	27.3	5.91	2.793	4.392	19.287	0.222	0.0261355788112	.	0.000998403	0.0006	0	8.637e-05	0	0	2.997e-05	0	0.0039	0.0004981	77	154602	rs559312046	0.0003	0.0003	0.0001	0.0004	0.0038	0.0002	0.0002	0.0035	0.0033	0.0002	4.472e-05	0	0.0001	0	0.0002	2.428e-05	0.0003	0.0038	0.0002	0.0002	8.995e-05	0.0002	0.0033	0.0001	8.713e-05	0.0021	0.0017	0.0001	0	0	0	0	0	0	2.94e-05	0	0.0033	0.043	0.41364	D	0.01	0.65728	D	1.0	0.90584	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	0.39	0.12200	N	-0.15	0.65192	T	-2.02	0.46503	N	0.772	0.81658	-0.6463	0.62874	T	0.285	0.65734	T	10	0.020723462	0.00482	T	0.026136	0.49069	D	0.222	0.51872	0.465	0.53566	0.520666329443	0.51711	0.6698088495036079	0.66918	0.876422331603	0.69590	0.599672317505	0.52857	T	0.083111	0.36981	T	-0.262806	0.12574	T	-0.150799	0.59173	T	0.103085284108736	0.12693	T	0.968203	0.88468	D	0.26498246	0.49566	0.17335956	0.39657	0.26498246	0.49565	0.17335956	0.39657	-6.412	0.54890	T	.	.	0.129	0.28607	B	.;.	.;.	5.047048	0.84037	28.2	0.99957695142386416	0.99986	0.91521	0.53705	D	AEFBI	0.473967	0.51842	N	0.525244321775104	0.68586	5.23779	0.585195928339491	0.73877	6.043055	0.999999977081792	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.91	5.91	0.95240	4.457000	0.59826	6.016000	0.52721	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:1.0:0.0:0.0	19.287	0.94064	883	0.28872	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2294.98	41	chr5	133225251	.	C	T	2294.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=896;ExcessHet=0.0000;FS=3.322;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.08;ReadPosRankSum=-4.290e-01;SOR=0.481	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1484	20	0	1	0
chr5	134304549	134304549	T	A	exonic	CDKL3	.	nonsynonymous SNV	CDKL3:NM_001349366:exon6:c.A592T:p.I198L	.	.	440	1080	2	0	0	2	0.000925069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.138	B	0.023	B	0.269	N	1.000	N	0.345	N	0.9	T	-0.970	T	0.143	T	0.071	1.909	12.34	1.28	0.315	-0.755	4.501	0.098	0.0243044724896	0.0004	0.00139776	0.0003	0.0018	0.0005	0	0	7.369e-05	0	7.199e-05	0.0002458	38	154602	rs376532976	9.345e-05	9.371e-05	8.062e-05	0.0001	0.0019	8.06e-05	7.551e-05	0.0014	0.0013	0.0018	0.0009	0	0	0	0.0019	9.012e-06	0.0003	1.181e-05	0.0006	0.0006	0.0005	0.0006	0.0016	0.0005	0.0004	0.0011	0.0009	0.0013	0	0.0016	0	0	0	0.0034	2.941e-05	0.0019	0	0.148	0.25255	T	0.231	0.25061	T	0.006	0.17573	B	0.001	0.17295	B	0.269326	0.15158	N	0.618388	1	0.08975	N	0.345	0.11182	N	-0.65	0.72785	T	-0.54	0.16598	N	0.241	0.27197	-0.9698	0.37242	T	0.143	0.46440	T	10	0.009687334	0.00218	T	0.024304	0.47297	T	0.098	0.28162	0.086	0.00867	0.294918367191	0.29099	0.04049316222694483	0.03995	0.0201066416004	0.01973	0.31461673975	0.12605	T	0.00868	0.07952	T	-0.544284	0.00316	T	-0.573617	0.15119	T	0.00441486767835874	0.00047	T	0.678632	0.28733	T	0.04973098	0.08875	0.053299148	0.08950	0.04973098	0.08875	0.053299148	0.08950	-3.136	0.11714	T	.	.	0.068	0.13737	B	.;.;.	.;.;.	0.798885	0.11694	8.275	0.95469613363735706	0.27016	0.02283	0.06581	N	AEDGHCIJ	0.090588	0.18355	N	-0.740892299570363	0.14882	0.7451783	-0.669799724964899	0.17717	0.9433372	0.00997676721447742	0.11944	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.75	1.28	0.20656	-0.739000	0.04971	.	.	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.986000	0.61781	0.1521:0.4356:0.0:0.4123	4.501	0.11275	345	0.85689	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1276.98	35	chr5	134304549	.	T	A	1276.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.630e-01;DP=785;ExcessHet=0.0000;FS=0.810;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.58;ReadPosRankSum=2.30;SOR=0.547	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,111,1665	20	0	1	0
chr5	134682375	134682375	C	T	exonic	SEC24A	.	nonsynonymous SNV	SEC24A:NM_001252231:exon9:c.C1384T:p.P462S	.	.	447	1072	3	0	0	3	0.0013973	.	.	2761243	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.988	D	0.000	D	1.000	D	3.205	M	-1.75	D	0.733	D	0.788	D	0.88	4.908	28.3	5.71	2.701	7.689	19.849	0.859	0.0736166386824	0.0003	.	0.0002	0.0001	0	0	0	0.0003	0.0011	0.0004	0.000207	32	154602	rs201167267	0.0001	0.0001	0.0001	0.0002	0.0041	0.0001	0.0001	0.0028	0.0024	0.0001	0.0002	3.921e-05	0	0	0.0041	0.0001	0.0002	0.0006	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	9.713e-05	0.0001	0.0001	2.413e-05	0	0.0003	0	0	0	0	0.0002	0.0010	0.0004	0.002	0.72154	D	0.006	0.70582	D	0.999	0.77913	D	0.988	0.77976	D	0.000077	0.52346	D	0.208505	1	0.81001	D	3.335	0.90898	M	-1.75	0.83495	D	-7.08	0.94300	D	0.903	0.90704	0.733	0.93579	D	0.788	0.92800	D	10	0.887833	0.88117	D	0.073617	0.71836	D	0.859	0.95691	.	.	0.980752625258	0.98054	0.7479506015366877	0.74741	0.483403447273	0.47295	0.859403073788	0.91023	D	0.397512	0.75586	T	0.170279	0.71150	D	0.369851	0.91066	D	0.803611874580383	0.46601	D	0.989101	0.96624	D	0.7655715	0.81783	0.6527588	0.79678	0.7655715	0.81785	0.6527588	0.79679	-12.43	0.89181	D	.	.	0.973	0.89938	P	.;.	.;.	5.151578	0.86283	28.9	0.99901514917106105	0.97350	0.98744	0.86296	D	AEFGBI	0.865773	0.78499	D	0.961365161388997	0.94425	12.74851	0.912084555887785	0.96077	14.27787	0.999999999989999	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.71	5.71	0.89031	7.776000	0.84252	.	.	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.849	0.96730	608	0.67185	Zinc finger, Sec23/Sec24-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	257.98	33	chr5	134682375	.	C	T	257.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=744;ExcessHet=0.0000;FS=1.378;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.79;ReadPosRankSum=0.456;SOR=0.437	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr5	134688287	134688287	T	G	exonic	SEC24A	.	nonsynonymous SNV	SEC24A:NM_001252231:exon11:c.T1711G:p.S571A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.905	P	0.931	D	0.000	D	1.000	D	1.75	L	-0.93	T	-0.083	T	0.510	D	0.63	3.470	17.77	5.78	2.204	6.139	16.119	0.358	0.0415033546808	.	.	2.497e-05	0	0	0	0	1.507e-05	0	0.0001	1.94e-05	3	154602	rs762980360	7.832e-06	8.213e-06	8.546e-06	7.119e-06	4.712e-05	4.2e-06	3.07e-06	1.6e-05	9.41e-06	0	0	3.876e-05	0	0	0	5.66e-06	0	4.712e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.34800	T	0.288	0.43159	T	0.905	0.49920	P	0.931	0.66596	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.09	0.57893	M	-0.93	0.75215	T	-2.08	0.50502	N	0.763	0.76111	-0.0833	0.80480	T	0.510	0.81565	D	10	0.7881757	0.78428	D	0.041503	0.59964	D	0.507	0.78786	0.719	0.85408	0.806323581441	0.80450	0.49202011243058125	0.49123	0.418032938236	0.42399	0.803684830666	0.82525	D	0.081923	0.36710	T	-0.0278024	0.47737	T	-0.0741129	0.65332	T	0.562611162662506	0.34954	D	0.947205	0.79675	D	0.4474879	0.63882	0.50803757	0.71568	0.4474879	0.63883	0.50803757	0.71569	-7.41	0.59271	T	.	.	0.130	0.27939	B	.;.	.;.	4.829321	0.78732	27.0	0.99492585523937416	0.67516	0.97802	0.77240	D	AEFDBI	0.701478	0.65816	D	0.626867598147889	0.74880	6.208401	0.652751528535904	0.78815	6.952981	0.999035019743362	0.38264	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	6.118000	0.71287	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.119	0.81146	567	0.70732	Sec23/Sec24, trunk domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1162.98	33	chr5	134688287	.	T	G	1162.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.500e-02;DP=793;ExcessHet=0.0000;FS=3.595;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.67;ReadPosRankSum=0.397;SOR=1.077	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1390	20	0	1	0
chr5	134715052	134715052	G	A	exonic	SEC24A	.	nonsynonymous SNV	SEC24A:NM_021982:exon19:c.G2756A:p.R919H,	.	.	.	.	.	.	.	.	.	.	.	2204646	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	0.165	B	0.069	B	0.000	D	1.000	D	2.305	M	-2.54	D	0.194	D	0.680	D	0.653	4.483	24.0	5.82	2.743	6.625	20.085	0.512	0.0374214094893	.	.	2.484e-05	0	0	0	0	1.499e-05	0	0.0001	3.23e-05	5	154602	rs538416137	3.218e-05	3.283e-05	2.18e-05	4.266e-05	9.304e-05	2.48e-05	2.222e-05	4.591e-05	3.281e-05	0	0	0	2.526e-05	0	0	3.239e-05	3.315e-05	9.304e-05	2.63e-05	2.627e-05	0	5.383e-05	0.0002	8.15e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0.0002	0	0	4.411e-05	0	0	0.028	0.46129	D	0.003	0.76473	D	0.142	0.27621	B	0.034	0.22546	B	0.000000	0.84330	D	0.047695	1	0.81001	D	2.715	0.79425	M	-2.54	0.89496	D	-4.06	0.74582	D	0.339	0.38027	0.194	0.85805	D	0.680	0.88944	D	10	0.273405	0.44889	T	0.037421	0.57603	D	0.512	0.79094	0.511	0.60846	0.877194912468	0.87599	0.5488952972550776	0.54815	0.126449546592	0.14255	0.541811347008	0.44702	T	0.249858	0.61988	T	0.0936055	0.63593	D	0.0788283	0.75499	D	0.570958701454308	0.35271	D	0.925407	0.72589	D	0.26772255	0.49844	0.249872	0.50567	0.26772255	0.49844	0.249872	0.50566	-8.509	0.64488	D	.	.	0.117	0.23779	B	.	.	4.450507	0.69175	25.3	0.99849745748558205	0.92925	0.98938	0.88891	D	AEFDBI	0.810324	0.73360	D	0.301410942098703	0.56220	3.786502	0.446638068577311	0.64503	4.706779	0.999999999999515	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.82	5.82	0.92740	6.737000	0.74619	.	.	0.592000	0.32167	1.000000	0.71638	0.999000	0.35428	0.999000	0.91618	0.0:0.0:1.0:0.0	20.085	0.97797	625	0.65529	Sec23/Sec24, helical domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1174.98	40	chr5	134715052	.	G	A	1174.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=805;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=1.63;SOR=0.693	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1369	20	0	1	0
chr5	134855357	134855357	G	A	exonic	C5orf24	.	nonsynonymous SNV	C5orf24:NM_001135586:exon2:c.G457A:p.D153N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	T	0.001	B	0.001	B	0.000	D	1.000	D	-0.55	N	.	.	-0.985	T	0.039	T	0.024	1.425	10.71	5.01	2.838	7.336	3.994	0.164	0.00103498995174	.	.	1.648e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs758397310	2.326e-05	2.326e-05	1.633e-05	3.025e-05	0.0004	1.674e-05	1.477e-05	0.0002	0.0002	0.0004	4.472e-05	0	0	0	0.0002	8.993e-07	0.0001	9.275e-05	1.971e-05	1.969e-05	1.285e-05	2.687e-05	0.0002	5.24e-06	2.45e-06	7.98e-06	2.98e-06	4.814e-05	0	0	0	0	0	0	0	0	0.0002	0.634	0.05091	T	0.966	0.02509	T	0.001	0.07471	B	0.001	0.04355	B	0.000010	0.62929	D	0.109289	0.985357	0.81001	D	-1.79	0.00298	N	.	.	.	-0.45	0.14782	N	0.119	0.16308	-0.9850	0.33832	T	0.039	0.16763	T	9	0.027187645	0.00869	T	0.001035	0.01144	T	0.164	0.42212	0.201	0.11522	0.0675242888579	0.06100	0.2767448293139494	0.27587	0.401262312476	0.41111	.	.	.	0.025844	0.19245	T	-0.414891	0.01845	T	-0.631084	0.10333	T	0.982011556625366	0.74243	D	0.873913	0.58386	D	0.03762255	0.04859	0.029957863	0.01392	0.03762255	0.04859	0.029957863	0.01391	-3.174	0.12165	T	.	.	0.066	0.02091	B	.;.;.	.;.;.	3.778426	0.54311	23.5	0.93147450806743681	0.22793	0.90918	0.52509	D	AEFDGBI	0.243471	0.36475	N	-0.201320999784782	0.33080	1.872764	0.0918624604453567	0.44137	2.701432	0.999999997788766	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.98	5.01	0.66477	7.367000	0.78814	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.3128:0.0:0.6872:0.0	3.994	0.09041	799	0.44747	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1901.98	35	chr5	134855357	.	G	A	1901.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.080e-01;DP=825;ExcessHet=0.0000;FS=2.146;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=-1.509e+00;SOR=0.558	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1082	20	0	1	0
chr5	135009393	135009393	G	A	exonic	CATSPER3	.	nonsynonymous SNV	CATSPER3:NM_178019:exon6:c.G839A:p.R280Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.013	B	0.002	B	0.646	N	1.000	N	0.69	N	-4.23	D	-0.012	T	0.764	D	0.098	0.183	4.984	-1.15	-0.363	-0.115	9.127	0.281	0.0707527740471	.	0.000199681	1.648e-05	0	8.637e-05	0	0	0	0	6.056e-05	1.94e-05	3	154602	rs562430942	6.844e-06	7.525e-06	1.362e-06	1.238e-05	4.638e-05	3.46e-06	2.52e-06	1.583e-05	9.3e-06	2.988e-05	0	0	0	0	0	2.699e-06	3.312e-05	4.638e-05	1.313e-05	1.312e-05	1.285e-05	1.342e-05	6.535e-05	2.18e-06	8.2e-07	.	.	2.405e-05	0	6.535e-05	0	0	0	0	0	0	0	0.455	0.08865	T	0.338	0.18125	T	0.013	0.16609	B	0.002	0.06944	B	0.645589	0.05892	N	1.209870	1	0.08975	N	1.1	0.28011	L	-4.23	0.97006	D	0.31	0.04022	N	0.185	0.20129	-0.0122	0.82002	T	0.764	0.91974	D	10	0.02217409	0.00547	T	0.070753	0.71087	D	0.281	0.59861	0.242	0.17524	0.445210270852	0.44144	0.4268940398494628	0.42606	0.115934735374	0.13078	0.214875876904	0.01035	T	0.042912	0.26335	T	-0.164642	0.26048	T	-0.292745	0.45485	T	0.019832487270605	0.00685	T	0.731927	0.34732	T	0.0320931	0.03170	0.046567246	0.06520	0.0320931	0.03170	0.046567246	0.06519	-2.188	0.03983	T	.	.	0.074	0.05145	B	.	.	0.541712	0.09104	5.886	0.54121695772281531	0.05074	0.10342	0.15875	N	AEFGBCI	0.057904	0.10824	N	-1.26208618506614	0.04142	0.1863952	-1.2634943322516	0.04934	0.2339385	0.0120307437862822	0.12269	0.533608	0.22052	0	0.573888	0.26702	0	0.685742	0.62368	0	0.564101	0.26826	0	.	.	5.07	-1.15	0.09211	-0.069000	0.11501	.	.	-0.119000	0.14319	0.345000	0.25717	0.001000	0.17328	0.066000	0.16387	0.5358:0.0:0.4642:0.0	9.127	0.35982	803	0.44167	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1655.98	152	chr5	135009393	.	G	A	1655.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.881;DP=925;ExcessHet=0.0000;FS=2.021;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.89;ReadPosRankSum=-9.280e-01;SOR=0.874	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1311	20	0	1	0
chr5	135446471	135446471	G	A	exonic	DCANP1	.	nonsynonymous SNV	DCANP1:NM_130848:exon1:c.C638T:p.T213I,	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.4	B	0.118	B	.	.	1.000	N	0	N	1.21	T	-1.039	T	0.040	T	0.08	0.059	4.323	0.535	0.084	0.467	5.249	0.044	0.00702022922797	.	0.000399361	0.0002	0	8.639e-05	0	0	0	0	0.0011	0.0001358	21	154602	rs531198567	9.031e-05	9.029e-05	5.037e-05	0.0001	0.0011	7.757e-05	7.3e-05	0.0010	0.0009	0	4.472e-05	0	0	0	0	2.248e-05	9.938e-05	0.0011	2.626e-05	2.624e-05	3.853e-05	1.342e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	.	.	.	.	.	.	0.4	0.34852	B	0.118	0.32088	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.21	0.37230	T	-5.25	0.84035	D	0.065	0.03726	-1.0394	0.17495	T	0.040	0.17277	T	9	0.011543781	0.00252	T	0.00702	0.18594	T	0.044	0.11924	0.163	0.06730	0.0297737177859	0.01360	0.0014563695207016243	0.00134	0.0454073510886	0.04925	.	.	.	0.048063	0.27906	T	-0.608404	0.00130	T	-0.692258	0.06260	T	0.0875162261901039	0.10919	T	0.332167	0.06971	T	0.30386475	0.53249	0.16373281	0.37966	0.30386475	0.53249	0.16373281	0.37965	-4.138	0.25848	T	.	.	0.292	0.52318	B	.	.	1.176151	0.15662	12.01	0.45837588787108879	0.03627	0.03251	0.08277	N	AEFDBI	0.047817	0.08093	N	-1.07923910788671	0.07026	0.325207	-1.14916151222811	0.06783	0.3276759	0.90825749884406	0.26280	0.497415	0.19182	0	0.491513	0.07743	0	0.48864	0.07692	0	0.542086	0.14980	0	.	.	3.31	0.535	0.16326	0.473000	0.21843	1.652000	0.27851	-0.169000	0.11342	0.001000	0.13787	0.036000	0.21445	0.001000	0.02609	0.3957:0.0:0.6043:0.0	5.249	0.14827	603	0.67726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2384.98	38	chr5	135446471	.	G	A	2384.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=949;ExcessHet=0.0000;FS=1.832;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=0.201;SOR=0.556	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr5	135825729	135825729	C	A	exonic	LOC107986453	.	stopgain	LOC107986453:NM_001365196:exon3:c.C485A:p.S162X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.358e-06	0	0	.	0	0	.	.	0	0	0	0	0	.	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	986.23	99	chr5	135825729	.	C	A,T	986.23	.	AC=2,5;AF=0.091,0.227;AN=22;BaseQRankSum=0.457;DP=99;ExcessHet=0.0678;FS=1.884;InbreedingCoeff=0.1957;MLEAC=2,9;MLEAF=0.091,0.409;MQ=60.00;MQRankSum=0.00;QD=12.48;ReadPosRankSum=-1.282e+00;SOR=0.476	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:3,0,0:3:9:.:.:0,9,81,9,81,81	6	1	0	10
chr5	135825740	135825740	C	T	exonic	LOC107986453	.	nonsynonymous SNV	LOC107986453:NM_001365196:exon3:c.C496T:p.P166S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.361e-06	0	0	.	0	0	.	.	0	0	0	0	0	.	0	0	0	1.314e-05	1.313e-05	2.569e-05	0	0.0004	2.18e-06	8.2e-07	7.29e-05	3.029e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	57.1	95	chr5	135825740	.	C	T	57.1	.	AC=2;AF=0.083;AN=24;DP=95;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3593;MLEAC=2;MLEAF=0.083;MQ=60.00;QD=28.55;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:3,0:3:9:.:.:0,9,81	11	1	0	9
chr5	135850452	135850452	G	A	exonic	SLC25A48	.	nonsynonymous SNV	SLC25A48:NM_001349336:exon3:c.G118A:p.G40R	.	.	433	1077	12	0	0	12	0.00554017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.067	B	0.015	B	0.006	N	1.000	N	-0.91	N	-1.13	T	-0.950	T	0.112	T	0.118	-1.242	0.054	0.555	0.189	0.219	6.210	0.095	0.0175462668687	0.0021	0.00119808	0.0024	0.0004	0.0011	0	0.0048	0.0027	0.0044	0.0036	0.0024256	375	154602	rs10455057	0.0027	0.0027	0.0026	0.0028	0.0047	0.0026	0.0026	0.0033	0.0028	0.0005	0.0017	0.0004	2.519e-05	0.0047	0.0047	0.0028	0.0023	0.0030	0.0026	0.0026	0.0022	0.0030	0.0033	0.0024	0.0023	0.0030	0.0028	0.0006	0.0022	0.0030	0.0003	0.0002	0.0069	0	0.0033	0.0014	0.0031	0.995	0.04957	T	0.811	0.09393	T	0.067	0.23653	B	0.015	0.17295	B	0.005700	0.32589	N	0.331523	1	0.81001	D	-0.85	0.01485	N	-1.13	0.77719	T	0.57	0.06253	N	0.218	0.30574	-0.9500	0.40972	T	0.112	0.40075	T	10	0.016314387	0.00344	T	0.017546	0.39293	T	0.095	0.27398	0.46	0.52753	0.173771789658	0.16945	.	.	0.335965822337	0.35601	0.309757918119	0.11871	T	0.042178	0.26097	T	-0.496311	0.00600	T	-0.489058	0.23490	T	0.00107627995024659	0.00010	T	0.767123	0.47714	T	0.0442975	0.07057	0.050858665	0.08067	0.0442975	0.07056	0.050858665	0.08066	-10.832	0.78728	D	.	.	0.104	0.24633	B	.;.;.;.;.;.	.;.;.;.;.;.	0.431732	0.08022	4.740	0.39269326978121166	0.02699	0.20435	0.21040	N	AEFDBI	0.118120	0.23111	N	-1.58152943384682	0.01359	0.05923644	-1.51213564435332	0.02251	0.1032121	0.00217253071264285	0.09210	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.55	0.555	0.16436	0.234000	0.17708	0.346000	0.17429	-0.724000	0.03774	0.026000	0.20160	0.007000	0.19602	0.158000	0.20581	0.232:0.1329:0.6351:0.0	6.210	0.19839	760	0.50470	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2517.98	34	chr5	135850452	.	G	A	2517.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.90;DP=976;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=0.308;SOR=0.724	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr5	135952907	135952907	C	T	exonic	LECT2	.	nonsynonymous SNV	LECT2:NM_002302:exon2:c.G107A:p.C36Y,	.	.	436	1082	4	0	0	4	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.986	D	0.757	P	0.000	D	1.000	D	2.005	M	3.0	T	-1.210	T	0.053	T	0.939	3.840	19.50	5.09	2.831	1.877	10.102	0.295	0.00515665484244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.58626	D	0.028	0.65728	D	0.986	0.61523	D	0.757	0.56292	P	0.000004	0.62929	D	0.143173	0.999938	0.81001	D	2.67	0.78151	M	3.0	0.09167	T	-6.17	0.93257	D	0.794	0.82157	-1.2103	0.00088	T	0.053	0.22578	T	10	0.7256754	0.73957	D	0.005157	0.13125	T	0.295	0.61502	0.591	0.71999	0.32580497728	0.32196	0.8901312305220768	0.88983	0.11555191635	0.13036	0.615881085396	0.55146	T	0.352417	0.91507	T	0.160958	0.70290	D	-0.00657096	0.69908	D	0.977872848510742	0.72052	D	0.887511	0.66112	D	0.600206	0.72702	0.5598307	0.74533	0.600206	0.72703	0.5598307	0.74534	-3.067	0.10920	T	.	.	0.842	0.80889	P	.;.;.	.;.;.	3.817536	0.55106	23.6	0.99765915540367689	0.85500	0.69868	0.34359	D	AEFBHCI	0.376967	0.46091	N	0.611331389363486	0.73890	6.040667	0.621055290248261	0.76473	6.497128	0.999996173640324	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.96	5.09	0.68647	2.105000	0.41449	3.234000	0.36926	0.599000	0.40250	0.997000	0.40164	0.999000	0.35428	0.975000	0.56047	0.0:0.9117:0.0:0.0883	10.102	0.41685	753	0.51500	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1044.98	33	chr5	135952907	.	C	T	1044.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.330e+00;DP=776;ExcessHet=0.0000;FS=1.867;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=-5.600e-01;SOR=0.458	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1175	20	0	1	0
chr5	136029067	136029067	C	A	exonic	TGFBI	.	nonsynonymous SNV	TGFBI:NM_000358:exon1:c.C12A:p.F4L,	Corneal dystrophy, Avellino type, Autosomal dominant;Corneal dystrophy, Groenouw type I, Autosomal dominant;Corneal dystrophy, Reis-Bucklers type;Corneal dystrophy, Thiel-Behnke type, Autosomal dominant;Corneal dystrophy, epithelial basement membrane, Autosomal dominant;Corneal dystrophy, lattice type I, Autosomal dominant;Corneal dystrophy, lattice type IIIA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.0	B	0.0	B	0.710	N	1.000	N	0.55	N	-2.65	D	-0.471	T	0.510	D	0.063	-0.272	2.695	2.08	0.763	0.125	5.047	0.225	0.110848426091	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1270971938	1.454e-06	8.893e-06	1.436e-06	1.473e-06	2.823e-05	2.4e-07	9e-08	.	.	0	2.823e-05	0	0	0	0	9.292e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.558	0.09175	T	0.0	0.02946	B	0.0	0.01387	B	0.710024	0.06252	N	1.171980	1	0.08975	N	0	0.06538	N	-2.65	0.90210	D	-0.64	0.18670	N	0.05	0.02179	-0.4714	0.69676	T	0.510	0.81580	D	10	0.121723264	0.23081	T	0.110848	0.78839	D	0.225	0.52323	0.449	0.50957	0.792803406161	0.79087	0.18336940747617894	0.18255	0.048090025717	0.05242	0.756882071495	0.75465	T	0.297197	0.66980	T	-0.126902	0.31997	T	-0.420063	0.31068	T	0.138344089654115	0.16131	T	0.382862	0.09330	T	0.15850629	0.35658	0.13841337	0.33055	0.15850629	0.35657	0.13841337	0.33055	0.029	0.00339	T	.	.	0.173	0.37969	B	.	.	1.671046	0.21307	15.14	0.72885792497547675	0.10130	0.15305	0.18846	N	ALL	0.062828	0.12101	N	-0.813628767404861	0.12962	0.6353039	-0.780829744128659	0.14965	0.7847063	0.999999999997054	0.74766	0.764865	0.99124	0	0.628146	0.54582	0	0.64067	0.45733	0	0.603991	0.37454	0	.	.	4.35	2.08	0.26079	-0.114000	0.10729	0.186000	0.15687	0.454000	0.21428	0.005000	0.17040	0.034000	0.21380	0.129000	0.19529	0.0:0.6157:0.2197:0.1646	5.047	0.13827	787	0.46738	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	809.98	34	chr5	136029067	.	C	A	809.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.140e-01;DP=753;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=0.616;SOR=0.638	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,975	20	0	1	0
chr5	136052961	136052961	C	T	exonic	TGFBI	.	nonsynonymous SNV	TGFBI:NM_000358:exon8:c.C968T:p.A323V,	Corneal dystrophy, Avellino type, Autosomal dominant;Corneal dystrophy, Groenouw type I, Autosomal dominant;Corneal dystrophy, Reis-Bucklers type;Corneal dystrophy, Thiel-Behnke type, Autosomal dominant;Corneal dystrophy, epithelial basement membrane, Autosomal dominant;Corneal dystrophy, lattice type I, Autosomal dominant;Corneal dystrophy, lattice type IIIA, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	295366	not_provided|Corneal_dystrophy	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.905	P	0.713	P	0.000	D	1.000	D	1.88	L	-2.92	D	0.729	D	0.808	D	0.457	3.110	16.39	5.65	2.811	5.956	20.073	0.482	0.0936295886399	0.0002	0.000599042	0.0004	0	0.0003	0	0	0.0003	0.0011	0.0012	0.0003493	54	154602	rs201210696	0.0004	0.0004	0.0004	0.0003	0.0011	0.0003	0.0003	0.0009	0.0008	0.0001	0.0004	0	2.519e-05	0	0.0007	0.0003	0.0004	0.0011	0.0003	0.0003	0.0003	0.0003	0.0015	0.0002	0.0002	0.0007	0.0005	4.813e-05	0	0.0006	0	0	0	0	0.0003	0.0009	0.0015	0.084	0.32929	T	0.104	0.43344	T	0.905	0.49920	P	0.342	0.42471	B	0.000001	0.62929	D	0.097639	0.999999	0.58761	D	1.69	0.43327	L	-2.92	0.91748	D	-2.5	0.54382	D	0.438	0.47672	0.729	0.93531	D	0.808	0.93504	D	10	0.09356344	0.16567	T	0.09363	0.76107	D	0.482	0.77206	.	.	0.942225882153	0.94162	0.743656641509649	0.74311	0.0919672583184	0.10381	0.520612001419	0.41713	T	0.721175	0.92121	D	-0.190678	0.22158	T	-0.0971123	0.63620	T	0.071263326559921	0.08827	T	0.936906	0.81072	D	0.20472185	0.42591	0.18389928	0.41408	0.22976309	0.45719	0.26404038	0.52217	-9.959	0.73665	D	0.4207052645317517	0.50954	0.236	0.54375	B	.;.	.;.	4.472223	0.69705	25.4	0.99803432450128327	0.88817	0.82581	0.41789	D	AEFBHCI	0.914190	0.87722	D	0.347499868493982	0.58608	4.034046	0.297806057186326	0.55412	3.704188	0.999999999999645	0.74766	0.50712	0.20391	0	0.610034	0.51514	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.65	5.65	0.86881	6.016000	0.70451	6.037000	0.52980	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.520000	0.29475	0.0:1.0:0.0:0.0	20.073	0.97731	775	0.48401	FAS1 domain|FAS1 domain|FAS1 domain;FAS1 domain|FAS1 domain|FAS1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1383.98	34	chr5	136052961	.	C	T	1383.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.490e-01;DP=836;ExcessHet=0.0000;FS=1.346;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.96;ReadPosRankSum=0.377;SOR=0.637	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr5	136055734	136055734	G	C	exonic	TGFBI	.	nonsynonymous SNV	TGFBI:NM_000358:exon11:c.G1465C:p.G489R,	Corneal dystrophy, Avellino type, Autosomal dominant;Corneal dystrophy, Groenouw type I, Autosomal dominant;Corneal dystrophy, Reis-Bucklers type;Corneal dystrophy, Thiel-Behnke type, Autosomal dominant;Corneal dystrophy, epithelial basement membrane, Autosomal dominant;Corneal dystrophy, lattice type I, Autosomal dominant;Corneal dystrophy, lattice type IIIA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	2.585	M	-3.45	D	-0.056	T	0.520	D	0.87	5.213	33	6.17	2.941	9.807	20.879	0.428	0.189405449353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.044637	1	0.81001	D	1.96	0.53105	M	-3.45	0.94469	D	-6.13	0.90100	D	0.863	0.85979	-0.0558	0.81083	T	0.520	0.82072	D	10	0.9899493	0.99479	D	0.189405	0.86060	D	0.754	0.91583	0.946	0.99325	0.97030895582	0.96999	0.9698763578687539	0.96975	0.0693150109517	0.07761	0.685180604458	0.65013	T	0.947327	0.99215	D	0.464101	0.93103	D	0.428873	0.93017	D	0.993617653846741	0.84484	D	0.927407	0.73262	D	0.98231125	0.99281	0.9520083	0.98520	0.98231125	0.99281	0.9520083	0.98520	-13.06	0.89609	D	0.7900606666327733	0.86863	0.972	0.89712	P	.	.	4.805309	0.78123	26.8	0.99937694532275989	0.99661	0.98378	0.82168	D	AEFBCI	0.983495	0.99926	D	0.677080024351857	0.78131	6.810037	0.741768832391626	0.85540	8.611375	1.0	0.98316	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.17	6.17	0.99707	9.940000	0.98890	11.878000	0.98757	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.838000	0.39538	0.0:0.0:1.0:0.0	20.879	0.99870	775	0.48401	FAS1 domain|FAS1 domain|FAS1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1822.98	37	chr5	136055734	.	G	C	1822.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.849;DP=881;ExcessHet=0.0000;FS=1.423;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.92;ReadPosRankSum=-1.117e+00;SOR=0.898	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1071	20	0	1	0
chr5	137936408	137936408	T	C	exonic	PKD2L2	.	stoploss	PKD2L2:NM_001258449:exon12:c.T1570C:p.X524Q	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	1.059	9.323	-1.92	-0.639	-0.343	1.917	.	.	.	0.00179712	0.0022	0	0	0	0	0.0005	0.0054	0.0039	0.0003105	48	154602	rs572073558	0.0003	0.0003	0.0002	0.0004	0.0049	0.0003	0.0003	0.0045	0.0043	6.335e-05	0	0.0008	2.8e-05	0	0.0009	1.299e-05	0.0004	0.0049	0.0002	0.0002	0.0002	0.0003	0.0052	0.0002	0.0002	0.0036	0.0031	7.218e-05	0	0	0.0023	0.0004	0	0	0	0	0.0052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.086	0.06322	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.793708	0.00009	T	-0.912891	0.00418	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	0.013096	0.04373	1.126	0.37685849860936033	0.02498	0.00138	0.00846	N	AEFBI	.	.	.	-1.03553480352601	0.07874	0.36728	-1.17867244357731	0.06267	0.3011376	0.981631805975165	0.30290	0.088506	0.02282	0	0.084494	0.02052	0	0.059349	0.00372	0	0.09929	0.02979	0	0.131583	0.25905	5.78	-1.92	0.07203	-0.281000	0.08489	0.398000	0.17967	-1.055000	0.01629	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.1168:0.2496:0.3436:0.29	1.917	0.03100	176	0.93188	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	354.98	35	chr5	137936408	.	T	C	354.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.65;ReadPosRankSum=-3.850e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1002	20	0	1	0
chr5	138084099	138084099	C	G	exonic	WNT8A	.	nonsynonymous SNV	WNT8A:NM_058244:exon1:c.C10G:p.L4V,	.	.	419	1073	28	2	0	32	0.0146924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.085	B	0.039	B	0.311	N	1.000	N	2.045	M	-0.93	T	-0.911	T	0.330	T	0.238	0.010	4.065	2.86	0.313	-0.014	4.097	0.124	.	0.0003	0.00259585	0.0022	0.0001	0.0008	0	0	0.0006	0.0022	0.0130	0.0019017	294	154602	rs199755858	0.0013	0.0013	0.0008	0.0017	0.0135	0.0012	0.0012	0.0128	0.0126	5.978e-05	0.0008	0.0007	2.522e-05	0	0.0063	0.0004	0.0019	0.0135	0.0009	0.0009	0.0007	0.0011	0.0151	0.0008	0.0007	0.0123	0.0113	0.0001	0	0.0014	0	0	0	0	0.0005	0.0019	0.0151	0.011	0.55530	D	0.411	0.14500	T	0.085	0.24868	B	0.039	0.23607	B	0.310841	0.04014	N	1.485870	1	0.08975	N	1.845	0.48678	L	-0.93	0.75215	T	-0.3	0.11913	N	0.263	0.29774	-0.9110	0.46732	T	0.330	0.69800	T	10	0.005675733	0.00126	T	.	.	.	0.124	0.34239	.	.	0.043077524339	0.03247	.	.	0.288721649116	0.31282	0.242398709059	0.03010	T	0.243498	0.61244	T	-0.428893	0.01505	T	-0.377821	0.35978	T	0.0152204173942903	0.00334	T	0.445055	0.12431	T	0.052534014	0.09811	0.041121922	0.04604	0.052534014	0.09811	0.041121922	0.04604	-4.156	0.26112	T	.	.	0.061	0.01042	B	.	.	0.544666	0.09130	5.916	0.96392510233545547	0.29658	0.12593	0.17363	N	AEFBHI	0.076011	0.15280	N	-0.715330114904319	0.15591	0.7870527	-0.764274921123827	0.15372	0.8081357	0.0420248267991545	0.14509	0.608966	0.35542	0	0.547309	0.14657	0	0.769059	0.98459	0	0.542086	0.14980	0	.	.	5.61	2.86	0.32427	-0.009000	0.12703	0.592000	0.19832	0.599000	0.40250	0.006000	0.17386	0.020000	0.20764	0.004000	0.06068	0.1882:0.4908:0.0:0.321	4.097	0.09468	219	0.91485	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	980.98	84	chr5	138084099	.	C	G	980.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.754e+00;DP=820;ExcessHet=0.0000;FS=5.434;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=0.220;SOR=1.434	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1319	20	0	1	0
chr5	138164810	138164810	A	T	exonic	BRD8	.	nonsynonymous SNV	BRD8:NM_001300962:exon11:c.T1512A:p.D504E	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.001	B	0.001	B	0.005	N	0.687	N	0	N	0.86	T	-0.996	T	0.032	T	0.057	-0.698	0.979	-1.33	-0.029	-0.778	1.192	0.041	0.00558885892888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.672	0.05452	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.004637	0.33547	N	0.349230	0.686991	0.30226	N	0	0.06538	N	0.86	0.46777	T	-0.46	0.14978	N	0.064	0.05037	-0.9963	0.30946	T	0.032	0.13811	T	10	0.05225563	0.05232	T	0.005589	0.14439	T	0.130	0.35528	0.136	0.04008	0.386882687439	0.38305	0.08133000816099044	0.08067	0.160302322173	0.18085	0.355854332447	0.18780	T	0.005437	0.07220	T	-0.338383	0.05501	T	-0.72384	0.04612	T	0.0383754334676374	0.03398	T	0.749425	0.37065	T	0.025944237	0.01591	0.022804465	0.00298	0.025944237	0.01591	0.022804465	0.00298	-1.519	0.01803	T	.	.	0.075	0.05845	B	.;.;.;.;.;.	.;.;.;.;.;.	0.342653	0.07159	3.746	0.42537681387206738	0.03142	0.08980	0.14824	N	AEFBI	0.066690	0.13074	N	-0.518380418277744	0.21486	1.140594	-0.51497924032914	0.21746	1.177861	0.00180200092578132	0.08901	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.52	-1.33	0.08693	-0.775000	0.04785	-1.081000	0.06389	0.691000	0.84096	0.142000	0.23535	0.000000	0.08366	0.948000	0.49324	0.3187:0.112:0.3246:0.2447	1.192	0.01752	172	0.93355	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2011.98	34	chr5	138164810	.	A	T	2011.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.12;DP=869;ExcessHet=0.0000;FS=0.607;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=-4.140e-01;SOR=0.639	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr5	138352831	138352833	GCT	-	exonic	KDM3B	.	nonframeshift deletion	KDM3B:NM_016604:exon1:c.36_38del:p.L16del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0	0	0	.	0.0049	0	0.0009	3.84e-05	1	26028	rs769886945	6.95e-05	0.0008	5.256e-05	8.711e-05	0.0006	5.723e-05	5.264e-05	0.0004	0.0003	0	0.0002	0.0001	4.004e-05	7.242e-05	0.0006	4.397e-05	4.22e-05	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	36.94	9	chr5	138352830	.	GGCT	G	36.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.020e+00;DP=367;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0247;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.84;ReadPosRankSum=0.987;SOR=0.330	GT:AD:DP:GQ:PL	0/0:21,0:21:63:0,63,538	20	0	1	0
chr5	138386226	138386226	G	A	exonic	KDM3B	.	nonsynonymous SNV	KDM3B:NM_016604:exon7:c.G985A:p.A329T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.001	B	0.001	B	0.001	N	1.000	D	0.55	N	0.11	T	-1.063	T	0.090	T	0.078	1.522	11.04	3.57	0.639	1.033	2.629	0.091	0.0050907779686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	0.19639	T	0.448	0.13030	T	0.001	0.07471	B	0.001	0.04355	B	0.000815	0.41658	N	0.203233	1	0.81001	D	0.55	0.14455	N	0.11	0.61208	T	-0.27	0.11366	N	0.175	0.18784	-1.0628	0.11069	T	0.090	0.34463	T	10	0.06675702	0.09204	T	0.005091	0.12908	T	0.091	0.26358	0.132	0.03662	0.147330786459	0.14319	0.1916634261127402	0.19084	0.550695722903	0.51928	0.434996545315	0.29892	T	0.010045	0.09105	T	-0.219422	0.18073	T	-0.552961	0.17042	T	0.100532970980296	0.12416	T	0.712529	0.32403	T	0.026300933	0.01671	0.050727747	0.08021	0.026300933	0.01671	0.050727747	0.08020	-3.985	0.23578	T	.	.	0.065	0.01884	B	.	.	2.111299	0.26865	17.27	0.98544586678743984	0.42770	0.79100	0.39133	D	AEFBI	0.192396	0.31955	N	-0.380122664428079	0.26178	1.426746	-0.197696092152855	0.31621	1.79126	0.999871070192208	0.44625	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.35	3.57	0.40014	0.730000	0.25711	2.928000	0.35601	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.1636:0.1348:0.5444:0.1572	2.629	0.04638	367	0.84523	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	422.21	35	chr5	138386226	.	G	A	422.21	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-5.135e+00;DP=1615;ExcessHet=0.6776;FS=178.999;InbreedingCoeff=-0.1235;MLEAC=4;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=0.76;ReadPosRankSum=1.56;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:114,0:138:99:.:.:0,331,3638	16	0	4	1
chr5	138783229	138783229	G	C	exonic	CTNNA1	.	nonsynonymous SNV	CTNNA1:NM_001290307:exon3:c.G158C:p.G53A	Macular dystrophy, patterned, 2, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.95	T	0.872	P	0.705	P	0.000	D	1.000	D	2.565	M	1.14	T	-0.734	T	0.233	T	0.777	5.021	29.6	5.71	2.704	9.813	19.458	0.449	0.0298016028861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	0.571	0.47902	P	0.587	0.54320	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.545	0.74286	M	1.14	0.50192	T	-4.75	0.80256	D	0.715	0.73555	-0.7338	0.58771	T	0.233	0.59953	T	10	0.69009626	0.71802	D	0.029802	0.52238	D	0.449	0.75004	0.523	0.62668	0.74418443796	0.74188	0.6178551982887122	0.61718	0.623089075282	0.56542	0.824554204941	0.85728	D	0.144529	0.81833	T	0.15507	0.69742	D	-0.0150292	0.69355	D	0.991934299468994	0.82306	D	0.989912	0.96822	D	0.49686974	0.66910	0.4543378	0.68271	0.49686974	0.66911	0.4543378	0.68271	-10.414	0.76351	D	0.6032830217688735	0.67044	0.993	0.95728	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.243913	0.88041	29.5	0.99762842982922051	0.85172	0.99388	0.95384	D	AEFGBI	0.962611	0.98426	D	0.565152398191243	0.71010	5.586284	0.627445119372814	0.76940	6.584647	0.999999999999999	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.71	5.71	0.89031	10.003000	0.99689	11.808000	0.96852	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.458	0.94897	451	0.79296	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	41.67	31	chr5	138783229	.	G	C	41.67	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.903e+00;DP=901;ExcessHet=0.0000;FS=207.787;InbreedingCoeff=-0.0504;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=0.76;ReadPosRankSum=0.911;SOR=7.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,10:44:28:.:.:0,28,845	19	0	1	1
chr5	139322969	139322969	-	GGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGA	splicing	MATR3	NM_001282278:exon14:c.1134+2->GGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGA;NM_001194954:exon14:c.2148+2->GGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGA;NM_199189:exon15:c.2148+2->GGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGA;NM_018834:exon12:c.2148+2->GGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGA;NM_001194956:exon11:c.1284+2->GGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGA;NM_001194955:exon12:c.2148+2->GGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGA	.	.	Amyotrophic lateral sclerosis 21, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1195984	not_provided	MedGen:C3661900	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.57e-05	0	0	0	0	4.684e-05	0	0	.	.	.	.	2.053e-06	2.736e-06	2.723e-06	1.375e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.656e-05	0	7.235e-05	0.0003	5.143e-05	9.426e-05	0.0004	3.975e-05	3.13e-05	7.296e-05	3.031e-05	0	0	0	0.0003	0	9.441e-05	0.0032	7.356e-05	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1845.94	32	chr5	139322969	.	T	TGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGA	1845.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=688;ExcessHet=0.0000;FS=11.673;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=27.55;ReadPosRankSum=-1.620e-01;SOR=0.086	GT:AD:DP:GQ:PL	0/0:23,0:23:60:0,60,900	20	0	1	0
chr5	139325531	139325531	C	A	exonic	MATR3	.	nonsynonymous SNV	MATR3:NM_001194956:exon12:c.C1376A:p.S459Y	Amyotrophic lateral sclerosis 21, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.993	D	0.942	D	0.097	N	0.967	D	0.345	N	-1.12	T	-0.113	T	0.422	T	0.345	3.937	20.1	4.64	2.575	1.610	16.236	0.295	0.0300812869711	.	.	2.471e-05	0	0	0	0	1.499e-05	0	0.0001	1.94e-05	3	154602	rs769251601	1.3e-05	1.3e-05	4.084e-06	2.2e-05	0.0002	8.31e-06	6.7e-06	0.0001	0.0001	0	0	0	0	0	0	8.993e-07	0	0.0002	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.78490	D	0.014	0.64786	D	0.826	0.65571	P	0.446	0.67772	B	0.097205	0.20038	N	0.563097	0.945644	0.38537	D	0	0.06538	N	-1.12	0.77593	T	-2.74	0.58248	D	0.382	0.46180	-0.1128	0.79802	T	0.422	0.76684	T	10	0.25253782	0.42609	T	0.030081	0.52463	D	0.295	0.61502	0.421	0.46365	0.694692057958	0.69206	0.2877324485204993	0.28686	0.165407245913	0.18654	0.55164372921	0.46090	T	0.222762	0.58670	T	-0.176104	0.24316	T	-0.216438	0.53079	T	0.401473999023438	0.28997	T	0.934307	0.76748	D	0.37233913	0.58757	0.40192708	0.64689	0.37233913	0.58758	0.40192708	0.64689	-8.019	0.61199	D	0.2169305612442733	0.29188	0.134	0.34250	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.918608	0.57191	23.8	0.99542200529217018	0.70586	0.91191	0.53039	D	AEFGBCI	0.584706	0.58342	D	0.212200008179393	0.51789	3.357542	0.292429909675417	0.55096	3.673068	0.99999999535886	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.64	4.64	0.57399	2.068000	0.41097	5.921000	0.51166	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:1.0:0.0:0.0	16.236	0.82198	614	0.66605	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1938.98	38	chr5	139325531	.	C	A	1938.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.476e+00;DP=1199;ExcessHet=0.0000;FS=2.002;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.51;ReadPosRankSum=-1.290e-01;SOR=0.887	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1301	20	0	1	0
chr5	139325664	139325664	-	ATAGACTATGTGATACCTAAAACA	splicing	MATR3	NM_001282278:exon15:c.1357+2->ATAGACTATGTGATACCTAAAACA;NM_001194954:exon15:c.2371+2->ATAGACTATGTGATACCTAAAACA;NM_199189:exon16:c.2371+2->ATAGACTATGTGATACCTAAAACA;NM_018834:exon13:c.2371+2->ATAGACTATGTGATACCTAAAACA;NM_001194956:exon12:c.1507+2->ATAGACTATGTGATACCTAAAACA;NM_001194955:exon13:c.2371+2->ATAGACTATGTGATACCTAAAACA	.	.	Amyotrophic lateral sclerosis 21, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.74e-06	2.052e-05	5.454e-06	0	2.32e-05	6.4e-07	4.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	1.801e-06	0	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	323.94	38	chr5	139325664	.	T	TATAGACTATGTGATACCTAAAACA	323.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=1093;ExcessHet=0.0000;FS=37.314;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.97;MQRankSum=-6.308e+00;QD=1.94;ReadPosRankSum=-5.709e+00;SOR=5.186	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1301	20	0	1	0
chr5	139326213	139326213	C	G	exonic	MATR3	.	nonsynonymous SNV	MATR3:NM_001194956:exon13:c.C1558G:p.L520V	Amyotrophic lateral sclerosis 21, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.993	D	0.952	D	0.000	D	1.000	D	2.16	M	-1.28	T	0.230	D	0.597	D	0.573	2.777	15.25	5.12	2.390	2.330	9.398	0.411	0.043037839011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.72154	D	0.0	0.92824	D	0.993	0.65571	D	0.952	0.69102	D	0.000005	0.62929	D	0.064020	0.970806	0.81001	D	1.465	0.36909	L	-1.28	0.79376	T	-1.93	0.48687	N	0.428	0.63628	0.230	0.86411	D	0.597	0.85644	D	10	0.4658085	0.59562	T	0.043038	0.60775	D	0.411	0.72252	0.307	0.27806	0.782128706469	0.78011	0.4141043706151133	0.41326	0.507843722597	0.48965	0.746913909912	0.73991	T	0.106032	0.41703	T	0.0822375	0.62301	D	-0.119648	0.61832	T	0.867589059671067	0.51759	D	0.949605	0.88660	D	0.21364106	0.43747	0.1898273	0.42352	0.21364106	0.43747	0.1898273	0.42351	-9.59	0.71418	D	.	.	0.859	0.81592	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.966869	0.58223	24.0	0.9973338257396801	0.82904	0.95802	0.66216	D	AEFGBI	0.567869	0.57328	D	0.612583464627393	0.73969	6.053824	0.587620726464667	0.74050	6.071807	0.999965609160789	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.12	5.12	0.69459	1.848000	0.38949	4.905000	0.45897	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8422:0.0:0.1578	9.398	0.37580	613	0.66686	Matrin/U1-C, C2H2-type zinc finger|Matrin/U1-C-like, C2H2-type zinc finger;Matrin/U1-C, C2H2-type zinc finger|Matrin/U1-C-like, C2H2-type zinc finger;Matrin/U1-C, C2H2-type zinc finger|Matrin/U1-C-like, C2H2-type zinc finger;Matrin/U1-C, C2H2-type zinc finger|Matrin/U1-C-like, C2H2-type zinc finger;Matrin/U1-C, C2H2-type zinc finger|Matrin/U1-C-like, C2H2-type zinc finger;Matrin/U1-C, C2H2-type zinc finger|Matrin/U1-C-like, C2H2-type zinc finger;Matrin/U1-C, C2H2-type zinc finger|Matrin/U1-C-like, C2H2-type zinc finger;.;Matrin/U1-C, C2H2-type zinc finger|Matrin/U1-C-like, C2H2-type zinc finger;Matrin/U1-C, C2H2-type zinc finger|Matrin/U1-C-like, C2H2-type zinc finger	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1239.98	35	chr5	139326213	.	C	G	1239.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.461;DP=797;ExcessHet=0.0000;FS=0.766;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=0.022;SOR=0.866	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1254	20	0	1	0
chr5	139381980	139381980	G	A	exonic	SLC23A1	.	nonsynonymous SNV	SLC23A1:NM_005847:exon3:c.C220T:p.H74Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.0	B	0.002	B	0.314	N	1.000	N	-0.205	N	2.27	T	-1.025	T	0.018	T	0.163	1.888	12.27	3.87	2.497	0.460	5.753	0.133	0.00332110348028	.	0.000199681	0.0008	0	0	0	0	0	0	0.0043	0.0002911	45	154602	rs569370877	0.0001	0.0001	6.163e-05	0.0002	0.0020	0.0001	9.911e-05	0.0017	0.0016	0	0	0	0	0	0	0	0.0001	0.0020	6.567e-05	6.561e-05	3.855e-05	9.402e-05	0.0021	3.515e-05	2.615e-05	0.0011	0.0009	0	0	0	0	0	0	0	0	0	0.0021	0.446	0.27194	T	0.799	0.04079	T	.	.	.	.	.	.	0.314286	0.14379	N	0.705308	1	0.08975	N	.	.	.	2.27	0.17431	T	-2.51	0.54546	D	0.121	0.11483	-1.0251	0.22050	T	0.018	0.07423	T	10	0.013409883	0.00284	T	0.003321	0.07390	T	0.133	0.36157	0.53	0.63707	0.556422688407	0.55302	0.5210572750268101	0.52028	0.0648658095776	0.07242	0.369481831789	0.20758	T	.	.	.	-0.574893	0.00207	T	-0.602874	0.12572	T	0.0211128868952522	0.00813	T	0.39826	0.10085	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.35808	B	.;.;.	.;.;.	2.695038	0.35192	19.83	0.98790896686371499	0.46285	0.21806	0.21530	N	AEFDGBHCI	0.269153	0.38549	N	-0.556038717890019	0.20294	1.068814	-0.387303360059139	0.25375	1.395046	0.999999981107259	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.82	3.87	0.43823	0.164000	0.16359	8.290000	0.76916	0.665000	0.62972	0.000000	0.06391	1.000000	0.68203	0.592000	0.31189	0.1006:0.0:0.6227:0.2767	5.753	0.17422	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	858.98	34	chr5	139381980	.	G	A	858.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.798;DP=779;ExcessHet=0.0000;FS=2.926;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.99;ReadPosRankSum=0.122;SOR=1.104	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1190	20	0	1	0
chr5	139388057	139388057	A	T	exonic	MZB1	.	nonsynonymous SNV	MZB1:NM_016459:exon3:c.T377A:p.I126N,	.	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.966	D	.	.	1.000	D	2.015	M	1.35	T	-0.755	T	0.190	T	0.767	4.183	21.7	5.01	2.115	4.843	11.037	0.262	0.0996667578985	.	0.000199681	4.623e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs533138763	3.565e-06	3.42e-06	2.815e-06	4.335e-06	2.513e-05	1.04e-06	7.6e-07	4.17e-06	1.56e-06	0	0	0	0	0	0	2.776e-06	0	2.513e-05	6.565e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.78490	D	0.001	0.83351	D	0.995	0.67487	D	0.951	0.68939	D	.	.	.	.	0.946184	0.37517	D	2.485	0.72352	M	1.35	0.34648	T	-2.57	0.55501	D	0.804	0.79986	-0.7549	0.57678	T	0.190	0.54227	T	9	0.6241717	0.68147	D	0.099667	0.77146	D	0.262	0.57482	0.395	0.42099	0.619294269282	0.61621	0.39169515182193676	0.39084	0.422886519489	0.42771	0.526842951775	0.42590	T	0.046023	0.27299	T	-0.0455973	0.45114	T	-0.108303	0.62746	T	0.949806869029999	0.63195	D	0.735226	0.35154	T	0.6054209	0.72982	0.561855	0.74647	0.6054209	0.72983	0.561855	0.74648	-5.135	0.38274	T	.	.	0.535	0.66142	A	.	.	4.654213	0.74218	26.1	0.99278866682513722	0.57834	0.66340	0.33044	D	AEFDGBCIJ	0.739958	0.68435	D	0.57441306716627	0.71580	5.672636	0.528998581499544	0.69949	5.433993	0.999999999724134	0.74766	0.608966	0.35542	0	0.52208	0.09955	0	0.769059	0.98459	0	0.635259	0.50027	0	.	.	5.01	5.01	0.66477	4.968000	0.63441	9.432000	0.80803	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	11.037	0.47028	628	0.65206	Domain of unknown function DUF3456	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1246.98	37	chr5	139388057	.	A	T	1246.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=752;ExcessHet=0.0000;FS=0.959;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.34;ReadPosRankSum=-7.320e-01;SOR=0.576	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1043	20	0	1	0
chr5	139393683	139393683	C	T	exonic	PROB1	.	nonsynonymous SNV	PROB1:NM_001161546:exon1:c.G1399A:p.G467R,	.	.	426	1088	7	1	0	9	0.00411899	.	.	2379311	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.58	T	0.0	B	0.001	B	.	.	1.000	N	-0.345	N	.	.	-0.990	T	0.033	T	0.1	0.337	5.826	1.72	0.260	0.047	5.852	0.011	0.00232725472628	0.0002	0.000199681	0.0006	0	0	0	0	0.0012	0	0.0004	0.0001552	24	154602	rs377325818	0.0002	0.0002	0.0002	0.0002	0.0023	0.0002	0.0002	0.0013	0.0011	6.33e-05	0.0005	0.0044	0	0	0.0023	0.0001	0.0005	0.0001	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	9.908e-05	0	0	0.0002	0.0023	0	0	0	0.0002	0.0009	0	0.874	0.02581	T	0.356	0.17166	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	.	.	.	1.43	0.00805	N	0.077	0.05162	-0.9897	0.32677	T	0.033	0.14334	T	8	0.004777491	0.00101	T	0.002327	0.04507	T	0.011	0.01250	0.226	0.15109	0.0551355673512	0.04727	0.025325965205608567	0.02483	.	.	0.272533655167	0.06473	T	7.81E-4	0.00376	T	-0.560545	0.00252	T	-0.712959	0.05144	T	0.00663106754038004	0.00074	T	0.446455	0.12522	T	0.030092647	0.02612	0.052207988	0.08557	0.030092647	0.02612	0.052207988	0.08557	-2.255	0.04316	T	.	.	0.094	0.14339	B	.	.	-0.429859	0.02104	0.198	0.5699926620880883	0.05673	0.00256	0.01406	N	AEFDGBCI	0.035713	0.04644	N	-1.34907614716816	0.03134	0.1395339	-1.31407204023235	0.04248	0.1999421	0.999999791667306	0.74766	0.65757	0.49021	0	0.484254	0.07192	0	0.619478	0.44681	0	0.554799	0.18163	0	.	.	4.08	1.72	0.23498	-0.693000	0.05222	-0.217000	0.10799	-1.021000	0.01731	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.35:0.0:0.65	5.852	0.17948	627	0.65350	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1424.98	35	chr5	139393683	.	C	T	1424.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.050;DP=1246;ExcessHet=0.0000;FS=1.615;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.39;ReadPosRankSum=1.08;SOR=0.527	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	20	0	1	0
chr5	139402648	139402648	C	T	exonic	SPATA24	.	nonsynonymous SNV	SPATA24:NM_194296:exon2:c.G163A:p.A55T,	.	.	417	1085	20	0	0	20	0.00913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.93	P	0.602	P	0.025	N	1.000	N	0.55	N	.	.	-1.066	T	0.060	T	0.236	3.334	17.22	4.93	2.564	3.665	13.509	0.206	.	0.0064	0.00239617	0.0053	0.0014	0.0049	0	0.0013	0.0103	0.0041	0.0021	0.0019857	307	154602	rs192704505	0.0071	0.0068	0.0072	0.0071	0.0209	0.0070	0.0070	0.0178	0.0167	0.0012	0.0075	0.0130	0	0.0030	0.0209	0.0078	0.0087	0.0020	0.0065	0.0065	0.0064	0.0065	0.0094	0.0061	0.0060	0.0085	0.0083	0.0017	0.0274	0.0094	0.0150	0	0.0025	0.0272	0.0091	0.0090	0.0031	0.06	0.37326	T	0.182	0.29249	T	0.93	0.51791	P	0.602	0.50862	P	0.024900	0.26184	N	0.270583	1	0.81001	D	0.55	0.14455	N	.	.	.	-1.27	0.43524	N	0.185	0.23884	-1.0661	0.10293	T	0.060	0.25090	T	9	0.005219817	0.00114	T	.	.	.	0.206	0.49396	.	.	0.0138822411134	0.00435	.	.	.	.	0.425189107656	0.28550	T	0.032149	0.24342	T	-0.426714	0.01552	T	-0.379182	0.35819	T	0.0127884874069859	0.00217	T	0.767423	0.39947	T	0.10647121	0.25176	0.13564953	0.32473	0.10647121	0.25176	0.13564953	0.32473	-4.364	0.35077	T	.	.	0.103	0.18580	B	.;.;.;.;.	.;.;.;.;.	3.370742	0.46582	22.3	0.9977794420324817	0.86519	0.89525	0.50045	D	AEFDBHCI	0.357895	0.44876	N	0.182418017195211	0.50356	3.226291	0.292760391234527	0.55115	3.674992	0.999999999840867	0.74766	0.631981	0.41245	0	0.779548	0.99637	0	0.779548	0.98927	0	0.636	0.56748	0	.	.	4.93	4.93	0.64394	3.698000	0.54504	5.952000	0.51667	0.531000	0.24825	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:1.0:0.0:0.0	13.509	0.60956	621	0.65931	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1408.98	34	chr5	139402648	.	C	T	1408.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.820e-01;DP=794;ExcessHet=0.0000;FS=0.714;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=0.498;SOR=0.828	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1082	20	0	1	0
chr5	139477338	139477338	C	T	exonic	STING1	.	nonsynonymous SNV	STING1:NM_001367258:exon6:c.G580A:p.A194T	.	.	414	1096	11	1	0	13	0.00589569	.	.	454711	Autoinflammatory_syndrome|STING-associated_vasculopathy_with_onset_in_infancy	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0014405,MedGen:C4014722,OMIM:615934,Orphanet:425120	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.2	T	0.01	B	0.022	B	0.008	N	0.972	N	-0.345	N	1.98	T	-1.042	T	0.013	T	0.083	2.246	13.47	4.69	1.347	1.971	13.806	0.034	.	0.0072	0.0071885	0.0034	0.0217	0.0050	0	0.0002	0.0017	0.0068	0.0009	0.0032341	500	154602	rs140837017	0.0018	0.0018	0.0018	0.0018	0.0210	0.0017	0.0017	0.0197	0.0192	0.0210	0.0056	0.0073	5.038e-05	0.0008	0.0126	0.0009	0.0047	0.0008	0.0073	0.0073	0.0075	0.0071	0.0210	0.0069	0.0068	0.0199	0.0194	0.0210	0	0.0053	0.0069	0	0.0010	0.0170	0.0014	0.0090	0.0006	0.159	0.23813	T	0.049	0.48336	D	0.01	0.15535	B	0.022	0.19653	B	0.007555	0.31331	N	0.300219	0.971651	0.25642	N	0.695	0.17993	N	1.98	0.21865	T	-0.29	0.11728	N	0.141	0.14054	-1.0424	0.16592	T	0.013	0.05273	T	10	0.008134723	0.00185	T	.	.	.	0.034	0.08419	.	.	0.21279746466	0.20884	.	.	0.459163806562	0.45510	0.412652820349	0.26824	T	0.068521	0.33479	T	-0.60233	0.00141	T	-0.621062	0.11103	T	0.0127627101656513	0.00216	T	0.763824	0.39073	T	0.19446239	0.41196	0.10928245	0.26337	0.199105	0.41838	0.12335547	0.29745	-3.148	0.11855	T	.	.	.	.	.	.	.	3.004454	0.40157	21.1	0.98898943137448703	0.48145	0.91275	0.53206	D	AEFGBI	0.371736	0.45764	N	-0.420852432444123	0.24740	1.337967	-0.218111754383128	0.30887	1.743001	0.999999942063062	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	5.56	4.69	0.58546	1.827000	0.38740	2.672000	0.33955	0.599000	0.40250	0.999000	0.42656	0.999000	0.35428	0.912000	0.44740	0.0:0.9254:0.0:0.0746	13.806	0.62727	245	0.90404	Stimulator of interferon genes protein, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1070.98	35	chr5	139477338	.	C	T	1070.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.038e+00;DP=776;ExcessHet=0.0000;FS=0.918;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.73;ReadPosRankSum=2.97;SOR=0.846	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1295	20	0	1	0
chr5	139478449	139478449	C	A	exonic	STING1	.	nonsynonymous SNV	STING1:NM_001367258:exon5:c.G223T:p.V75L	.	.	421	1096	5	0	0	5	0.00227583	.	.	454714	STING1-related_disorder|Autoinflammatory_syndrome|not_provided|STING-associated_vasculopathy_with_onset_in_infancy	.|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:C3661900|MONDO:MONDO:0014405,MedGen:C4014722,OMIM:615934,Orphanet:425120	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.3	T	0.011	B	0.009	B	0.155	N	1.000	N	0	N	1.93	T	-1.044	T	0.013	T	0.058	1.366	10.50	4.61	1.294	0.571	12.728	0.055	.	0.0044	0.00479233	0.0014	0.0116	0.0009	0	0	0.0005	0	0.0001	0.0013713	212	154602	rs114834699	0.0006	0.0006	0.0006	0.0006	0.0145	0.0006	0.0006	0.0134	0.0130	0.0145	0.0017	0.0010	0	0	0.0050	0.0002	0.0019	9.275e-05	0.0034	0.0035	0.0035	0.0034	0.0105	0.0032	0.0031	0.0097	0.0093	0.0105	0	0.0042	0.0009	0	0	0.0102	0.0002	0.0019	0	0.34	0.12714	T	0.311	0.19721	T	0.011	0.15914	B	0.009	0.14300	B	0.154779	0.17851	N	0.585375	1	0.08975	N	0	0.06538	N	1.93	0.22881	T	-0.48	0.15379	N	0.061	0.03283	-1.0435	0.16265	T	0.013	0.04843	T	10	0.005369246	0.00118	T	.	.	.	0.055	0.15663	0.298	0.26362	0.223847106136	0.22009	.	.	0.480227256702	0.47039	0.253658235073	0.04163	T	0.030118	0.21426	T	-0.664623	0.00059	T	-0.718067	0.04890	T	0.00102074646949297	0.00010	T	0.721628	0.33490	T	0.14636981	0.33509	0.10053681	0.24042	0.19519722	0.41299	0.09903462	0.23630	-2.742	0.07663	T	.	.	0.144	0.31708	B	.;.	.;.	0.391193	0.07630	4.292	0.73947966798636278	0.10514	0.27781	0.23373	N	AEFBCI	0.209917	0.33586	N	-1.02847326077839	0.08016	0.3744136	-0.952368486846268	0.10868	0.5501788	0.999984754451863	0.51787	0.706298	0.61202	0	0.709663	0.81188	0	0.608075	0.38828	0	0.714379	0.83352	0	.	.	5.49	4.61	0.56724	0.971000	0.28993	0.559000	0.19493	-0.217000	0.08171	0.065000	0.21925	0.000000	0.08366	0.110000	0.18741	0.0:0.6835:0.3165:0.0	12.728	0.56555	244	0.90442	Stimulator of interferon genes protein, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1571.98	38	chr5	139478449	.	C	A	1571.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.000e-02;DP=925;ExcessHet=0.0000;FS=4.397;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.99;ReadPosRankSum=-2.910e-01;SOR=1.085	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr5	139481194	139481194	G	T	exonic	STING1	.	nonsynonymous SNV	STING1:NM_001367258:exon3:c.C19A:p.L7I	.	.	379	1138	5	0	0	5	0.00219202	.	.	455169	not_provided|STING1-related_disorder|Autoinflammatory_syndrome|STING-associated_vasculopathy_with_onset_in_infancy	MedGen:C3661900|.|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0014405,MedGen:C4014722,OMIM:615934,Orphanet:425120	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.05	D	0.837	P	0.434	B	0.000	N	0.843	D	2.175	M	1.8	T	-1.053	T	0.028	T	0.072	2.116	13.03	2.78	0.273	2.367	8.190	0.118	.	0.0042	0.00479233	0.0014	0.0116	0.0009	0	0	0.0005	0	0.0001	0.0013648	211	154602	rs142609349	0.0006	0.0006	0.0006	0.0006	0.0142	0.0006	0.0006	0.0132	0.0128	0.0142	0.0017	0.0010	0	0	0.0045	0.0002	0.0017	9.275e-05	0.0034	0.0034	0.0035	0.0033	0.0105	0.0032	0.0031	0.0096	0.0093	0.0105	0	0.0042	0.0009	0	0	0.0103	0.0002	0.0019	0	0.023	0.48186	D	0.077	0.42436	T	0.837	0.46346	P	0.434	0.45506	B	0.000410	0.44736	N	0.142967	0.842861	0.35095	D	2.7	0.79018	M	1.8	0.25344	T	-0.67	0.19297	N	0.414	0.45426	-1.0526	0.13682	T	0.028	0.11926	T	10	0.0062081516	0.00140	T	.	.	.	0.118	0.32913	.	.	0.469907520169	0.46616	.	.	0.611119145191	0.55765	0.406449615955	0.25965	T	0.090329	0.38562	T	-0.595188	0.00156	T	-0.618328	0.11316	T	0.0168981906981907	0.00442	T	0.594141	0.21965	T	0.21879041	0.44395	0.15372814	0.36112	0.24104431	0.47015	0.14688535	0.34782	-5.095	0.37855	T	.	.	0.140	0.30791	B	.;.	.;.	0.939738	0.13151	9.655	0.98757106587926713	0.45755	0.73857	0.36126	D	AEFDGBCIJ	0.430206	0.49301	N	-0.303312687965307	0.29022	1.605772	-0.335478535615709	0.26962	1.492858	0.999996660000697	0.74766	0.660085	0.49399	0	0.662677	0.63036	0	0.602189	0.34648	0	0.638787	0.57140	0	.	.	5.58	2.78	0.31702	1.911000	0.39567	1.035000	0.23510	-1.060000	0.01619	0.943000	0.32764	0.999000	0.35428	0.001000	0.02609	0.0728:0.0:0.63:0.2972	8.190	0.30524	242	0.90534	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2717.98	38	chr5	139481194	.	G	T	2717.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.186e+00;DP=1156;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=-1.530e-01;SOR=0.698	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1173	20	0	1	0
chr5	139847936	139847936	T	G	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon8:c.A2336C:p.Q779P	.	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.985	D	0.693	P	0.429	U	1.000	D	0	N	-0.35	T	-0.860	T	0.212	T	0.446	0.417	6.266	1.77	0.381	1.781	3.632	0.211	0.815088344226	.	.	0.0011	0	0	0	.	0.0043	0	0	0.0001035	16	154602	rs760621414	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0002	0.0003	0.0002	3.673e-05	0.0003	0.0058	0	0	0.0010	0.0001	0.0006	4.02e-05	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0001	9.727e-05	0	0.0002	0.0058	0	0	0	0.0003	0	0.0002	0.46	0.10945	T	0.369	0.18903	T	0.949	0.61118	P	0.496	0.53889	P	0.428849	0.12774	U	0.708168	1	0.81001	D	0.345	0.11182	N	-0.35	0.73845	T	-0.15	0.09297	N	0.149	0.20129	-0.8602	0.51249	T	0.212	0.57241	T	10	0.006616682	0.00150	T	0.815088	0.98560	D	0.211	0.50185	0.133	0.03747	0.799952660033	0.79808	0.3739328722111624	0.37307	1.71028078258	0.90427	0.863665759563	0.91651	D	0.24657	0.61606	T	-0.215619	0.18594	T	-0.247175	0.50095	T	0.101113092732925	0.12479	T	0.773923	0.40554	T	0.13185185	0.30719	0.10547739	0.25357	0.13185185	0.30719	0.10547739	0.25356	-2.043	0.03351	T	.	.	0.074	0.10400	B	.;.;.;.;.;.	.;.;.;.;.;.	3.258622	0.44559	22.0	0.93304160694157223	0.23017	0.38285	0.25954	N	AEFDBHCI	0.177323	0.30456	N	-0.254970591231506	0.30905	1.727755	-0.271741016149002	0.29033	1.623432	0.999978961644167	0.50053	0.455138	0.09556	0	0.609123	0.50646	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	2.95	1.77	0.23848	1.744000	0.37894	5.922000	0.51181	0.576000	0.29215	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.2319:0.1972:0.571	3.632	0.07676	22	0.98466	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	192.98	33	chr5	139847936	.	T	G	192.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.23;DP=694;ExcessHet=0.0000;FS=4.200;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.77;ReadPosRankSum=0.100;SOR=1.863	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1063	20	0	1	0
chr5	139848349	139848349	G	C	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon8:c.C1923G:p.I641M	.	.	421	1098	3	0	0	3	0.00136426	.	.	3465875	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.997	D	0.94	D	0.000	U	1.000	D	2.095	M	0.07	T	-0.461	T	0.301	T	0.369	2.730	15.09	2.7	1.524	2.125	9.439	0.334	0.905983015323	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1195004358	6.064e-05	4.995e-05	4.78e-05	7.493e-05	0.0007	4.874e-05	4.441e-05	0.0001	5.678e-05	0	0.0004	7.47e-05	0	0	0.0007	5.456e-05	0.0002	0	6.724e-05	6.577e-05	7.88e-05	5.511e-05	0.0002	3.594e-05	2.772e-05	5.406e-05	2.868e-05	0	0	0.0002	0	0	0	0	8.937e-05	0.0005	0	0.003	0.68238	D	0.113	0.52389	T	0.989	0.70673	D	0.901	0.67560	P	0.000393	0.44960	U	0.098581	0.917607	0.81001	D	2.215	0.62545	M	0.07	0.61677	T	-1.14	0.29323	N	0.36	0.54234	-0.4607	0.70044	T	0.301	0.67251	T	10	0.5408782	0.63712	D	0.905983	0.99296	D	0.334	0.65620	0.591	0.71999	0.565485592371	0.56212	0.22651146949524448	0.22566	1.85165128297	0.92292	0.970126271248	0.99979	D	0.414817	0.76826	T	-0.00684442	0.50707	T	-0.247608	0.50053	T	0.914592862129211	0.57130	D	0.89721	0.65873	D	0.5682571	0.70965	0.4644098	0.68913	0.5682571	0.70966	0.4644098	0.68913	-4.618	0.33585	T	.	.	0.671	0.71762	P	.;.;.;.;.;.	.;.;.;.;.;.	4.269490	0.64944	24.8	0.9937308392619093	0.61541	0.63717	0.32176	D	ALL	0.159924	0.28579	N	0.335587560934111	0.57983	3.968134	0.225156713073415	0.51246	3.308913	0.99999847800654	0.74766	0.443343	0.08805	1	0.218748	0.04544	0	0.666236	0.60216	0	0.603991	0.37454	0	.	.	2.7	2.7	0.31007	1.347000	0.33580	7.757000	0.68234	0.460000	0.21577	1.000000	0.71638	1.000000	0.68203	0.880000	0.42090	0.0:0.0:0.7876:0.2124	9.439	0.37821	22	0.98466	Neuregulin, C-terminal;.;Neuregulin, C-terminal;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	187.98	41	chr5	139848349	.	G	C	187.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.620e-01;DP=790;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.58;ReadPosRankSum=-1.093e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,907	20	0	1	0
chr5	139887481	139887481	C	T	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G731A:p.S244N	.	.	.	.	.	.	.	.	.	.	.	2325350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.28	T	0.106	B	0.102	B	0.001	N	0.755	D	0.35	N	1.58	T	-1.019	T	0.045	T	0.06	3.188	16.67	5.29	2.473	2.054	10.020	0.031	0.00739077046255	.	.	8.286e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs774596341	1.371e-06	1.369e-06	1.365e-06	1.378e-06	1.804e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.804e-06	0	0	6.59e-06	6.574e-06	0	1.35e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.184	0.23360	T	0.164	0.31026	T	0.087	0.26037	B	0.062	0.30857	B	0.000522	0.43581	N	0.227934	0.755028	0.33972	D	0.135	0.08676	N	1.58	0.29085	T	-0.32	0.21003	N	0.423	0.46274	-1.0194	0.23910	T	0.045	0.19518	T	10	0.22371674	0.39157	T	0.007391	0.19603	T	0.031	0.07369	0.366	0.37361	0.498748557451	0.49510	0.4556412808571356	0.45482	0.884494878246	0.69920	0.694656133652	0.66374	T	0.195255	0.55127	T	-0.302609	0.08415	T	-0.672453	0.07451	T	0.361964405132886	0.27486	T	0.79652	0.44558	T	0.08836372	0.20609	0.102840796	0.24660	0.08836372	0.20609	0.102840796	0.24659	-7.518	0.70016	D	.	.	0.221	0.45409	B	.;.;.;.;.;.	.;.;.;.;.;.	3.573511	0.50344	22.9	0.99603636505572957	0.74338	0.69576	0.34242	D	AEFBI	0.254283	0.37363	N	-0.162749740398921	0.34693	1.983396	0.0478054099699094	0.41967	2.53021	0.600115135775481	0.21718	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	5.29	0.74430	2.879000	0.48220	5.991000	0.52331	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.9072:0.0:0.0928	10.020	0.41207	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2941	1317.98	74	chr5	139887481	.	C	T	1317.98	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-4.144e+00;DP=2291;ExcessHet=6.1002;FS=235.435;InbreedingCoeff=-0.3991;MLEAC=11;MLEAF=0.324;MQ=60.00;MQRankSum=0.00;QD=1.13;ReadPosRankSum=0.733;SOR=11.408	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,23:102:39:0|1:139887481_C_T:39,0,2483:139887481	7	0	10	4
chr5	139887483	139887483	C	G	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G729C:p.K243N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.928	P	0.653	P	0.001	D	0.844	D	1.37	L	-0.42	T	-0.572	T	0.250	T	0.143	3.573	18.21	1.49	-0.008	0.043	8.579	0.129	0.0404591134086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	0.0001	0	1.376e-06	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.61437	D	0.159	0.58089	T	0.355	0.51611	B	0.285	0.52567	B	0.000553	0.43413	D	0.190992	0.843543	0.35106	D	0.855	0.21307	L	-0.42	0.69536	T	-2.26	0.50502	N	0.611	0.62781	-0.5718	0.65943	T	0.250	0.61993	T	10	0.51356286	0.62236	D	0.040459	0.59387	D	0.129	0.35316	0.432	0.48171	0.770213433332	0.76810	0.7045747211234696	0.70399	1.82077106802	0.91947	0.807813405991	0.83157	D	0.308239	0.68034	T	-0.142554	0.29486	T	-0.442546	0.28523	T	0.832137286663055	0.48697	D	0.877812	0.59215	D	0.16882665	0.37363	0.1489359	0.35185	0.16882665	0.37363	0.1489359	0.35184	-8.046	0.70185	D	.	.	0.798	0.86783	P	.;.;.;.;.;.	.;.;.;.;.;.	3.258046	0.44540	22.0	0.99831464818289628	0.91284	0.76178	0.37342	D	AEFBI	0.317848	0.42172	N	-0.0410797527166822	0.40002	2.368239	-0.0277489813419687	0.38467	2.266707	0.00604997340288372	0.11113	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	1.49	0.21966	0.199000	0.17037	0.102000	0.14662	-0.182000	0.10109	0.995000	0.38783	0.922000	0.28345	0.994000	0.71098	0.0:0.6914:0.0:0.3086	8.579	0.32777	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	1380.18	70	chr5	139887483	.	C	G,T	1380.18	.	AC=7,3;AF=0.184,0.079;AN=38;BaseQRankSum=-4.039e+00;DP=2146;ExcessHet=6.1002;FS=245.753;InbreedingCoeff=-0.3923;MLEAC=8,3;MLEAF=0.211,0.079;MQ=60.00;MQRankSum=0.00;QD=1.17;ReadPosRankSum=0.802;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,23,0:102:39:0|1:139887481_C_T:39,0,2483,273,2545,2818:139887481	9	0	7	2
chr5	140360317	140360317	C	G	exonic	SLC4A9	.	nonsynonymous SNV	SLC4A9:NM_001258426:exon1:c.C81G:p.S27R	.	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.924	P	0.466	P	0.007	N	1.000	N	0.55	N	-1.01	T	-0.640	T	0.336	T	0.216	2.460	14.19	-4.94	-0.876	-0.756	13.470	0.311	0.0103275213927	.	.	7.901e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs765949112	1.301e-05	1.3e-05	1.226e-05	1.377e-05	0.0002	8.32e-06	6.71e-06	8.11e-06	6.43e-06	0	0	0	0	0	0.0002	1.35e-05	1.658e-05	2.332e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.63226	D	0.111	0.38450	T	0.874	0.48047	P	0.466	0.46637	P	0.007225	0.01159	N	3.231360	1	0.08975	N	1.28	0.32218	L	-1.22	0.81399	T	-0.91	0.24898	N	0.159	0.18239	-0.6402	0.63137	T	0.336	0.70256	T	10	0.09051636	0.15776	T	0.010328	0.26741	T	0.311	0.63269	0.147	0.05039	0.466059976078	0.46230	0.266010349262904	0.26514	.	.	0.330199480057	0.14965	T	0.126405	0.45276	T	-0.211804	0.19125	T	-0.349683	0.39240	T	0.202151775360107	0.20534	T	0.541246	0.18358	T	0.3246632	0.55030	0.25761533	0.51481	0.3246632	0.55030	0.25761533	0.51480	-4.211	0.27584	T	.	.	0.130	0.33891	B	.;.;.;.	.;.;.;.	0.860931	0.12332	8.873	0.9820884803896891	0.39193	0.03018	0.07894	N	AEFDHI	0.051080	0.08989	N	-1.1917251824511	0.05124	0.2328723	-1.36339669100064	0.03650	0.1707241	0.999852710224996	0.44174	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.66	-4.94	0.02830	-0.756000	0.04882	.	.	-0.445000	0.05159	0.000000	0.06391	0.001000	0.17328	0.030000	0.13115	0.0:0.7128:0.0:0.2872	13.470	0.60731	180	0.92993	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1286.98	34	chr5	140360317	.	C	G	1286.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.330e-01;DP=790;ExcessHet=0.0000;FS=2.684;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.41;ReadPosRankSum=-1.030e-01;SOR=0.877	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1041	20	0	1	0
chr5	140367479	140367479	G	A	exonic	SLC4A9	.	stopgain	SLC4A9:NM_001258427:exon14:c.G1884A:p.W628X	.	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	.	.	.	.	0.084	N	1.000	A	.	.	.	.	.	.	.	.	.	5.693	36	4.12	1.446	-0.080	10.000	.	.	0.0004	.	0.0006	0	0.0001	0	0	0.0008	0	0.0011	0.0004722	73	154602	rs199786527	0.0005	0.0005	0.0005	0.0006	0.0016	0.0005	0.0005	0.0008	0.0007	5.997e-05	0.0002	0.0036	0	1.904e-05	0.0016	0.0005	0.0007	0.0009	0.0004	0.0004	0.0005	0.0004	0.0010	0.0004	0.0003	0.0005	0.0005	7.238e-05	0	0.0002	0.0020	0	0	0	0.0007	0.0014	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	0.083908	0.20727	N	0.414645	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.321	0.36148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239141	0.77581	D	0.495319	0.94515	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Recessive	.;.;.;High	7.736445	0.96812	36	0.99084910011399929	0.52051	0.80216	0.39913	D	AEFDGBHCI	0.323405	0.42561	N	0.78998023835392	0.85473	8.586926	0.603793813887194	0.75214	6.271281	0.999999995305313	0.74766	0.65861	0.49226	0	0.688826	0.66785	0	0.514364	0.09456	0	0.584449	0.35598	0	.	.	5.02	4.12	0.47504	0.132000	0.15716	.	.	0.676000	0.76740	0.988000	0.36536	1.000000	0.68203	0.985000	0.61073	0.0727:0.263:0.6643:0.0	10.000	0.41096	168	0.93464	.;.;.;Bicarbonate transporter, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1908.11	39	chr5	140367479	.	G	A	1908.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.195;DP=810;ExcessHet=0.1072;FS=0.685;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.35;ReadPosRankSum=0.722;SOR=0.591	GT:AD:DP:GQ:PL	0/1:41,38:79:99:1033,0,1140	19	0	2	0
chr5	140436224	140436224	C	G	exonic	ANKHD1;ANKHD1-EIF4EBP3	.	nonsynonymous SNV	ANKHD1:NM_001197030:exon2:c.C427G:p.Q143E	.	.	433	1075	13	1	0	15	0.00692841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.969	D	0.93	D	0.000	D	1.000	D	1.04	L	0.02	T	-0.395	T	0.296	T	0.685	3.874	19.68	5.47	2.534	7.772	19.344	0.334	0.0250461640452	0.0059	0.00119808	0.0052	0.0010	0.0012	0.0001	0.0092	0.0080	0.0034	0.0006	0.0052069	805	154602	rs61758138	0.0064	0.0064	0.0067	0.0062	0.0072	0.0063	0.0063	0.0071	0.0071	0.0012	0.0014	0.0090	2.563e-05	0.0110	0.0035	0.0072	0.0050	0.0006	0.0048	0.0048	0.0047	0.0049	0.0066	0.0045	0.0044	0.0061	0.0059	0.0010	0.0077	0.0022	0.0086	0.0002	0.0145	0.0102	0.0066	0.0038	0.0004	0.003	0.72154	D	0.017	0.63918	D	0.928	0.56768	P	0.778	0.66466	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.25	0.63811	M	-0.31	0.68474	T	-2.21	0.53577	N	0.73	0.82257	-0.3953	0.72175	T	0.296	0.66735	T	10	0.010007113	0.00224	T	0.025046	0.48032	D	0.334	0.65620	.	.	0.595572240033	0.59236	0.6421654533054104	0.66728	0.692019149431	0.60635	0.705172419548	0.67893	T	0.061483	0.31665	T	-0.171475	0.25011	T	-0.00611437	0.69938	D	0.0465401649666867	0.04882	T	0.992301	0.98937	D	0.51218176	0.67806	0.5848126	0.75925	0.51218176	0.67807	0.5848126	0.75925	-6.474	0.57229	T	.	.	0.456	0.72075	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.732178	0.53391	23.4	0.98973959600621353	0.49600	0.98611	0.84680	D	AEFBI	0.905402	0.85689	D	0.6373569727182	0.75552	6.326351	0.6866306696663	0.81363	7.509094	0.999999999999837	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.47	5.47	0.80345	7.902000	0.86082	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.344	0.94345	121	0.95159	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	554.98	33	chr5	140436224	.	C	G	554.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.924e+00;DP=700;ExcessHet=0.0000;FS=8.172;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.23;ReadPosRankSum=-7.280e-01;SOR=0.119	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1044	20	0	1	0
chr5	140538215	140538215	A	G	exonic	ANKHD1;ANKHD1-EIF4EBP3	.	nonsynonymous SNV	ANKHD1:NM_017747:exon32:c.A7358G:p.N2453S	.	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.989	D	0.958	D	0.000	D	1.000	D	1.735	L	1.73	T	-0.775	T	0.183	T	0.12	3.103	16.37	4.36	2.333	8.709	11.888	0.146	0.0230007109082	0.0031	0.00199681	0.0009	0.0061	0.0005	0	0	0.0006	0	0.0002	0.0008667	134	154602	rs111893699	0.0004	0.0004	0.0004	0.0004	0.0070	0.0004	0.0004	0.0062	0.0059	0.0070	0.0009	0.0003	0	3.744e-05	0.0036	0.0002	0.0012	0.0002	0.0020	0.0020	0.0021	0.0019	0.0062	0.0018	0.0018	0.0056	0.0054	0.0062	0	0.0017	0	0	0	0.0034	0.0002	0.0009	0.0002	0.038	0.58626	D	0.411	0.14500	T	0.959	0.55135	D	0.935	0.67021	D	0.000000	0.84330	D	0.000000	0.993691	0.42022	D	1.78	0.46185	L	-0.37	0.70133	T	-1.63	0.61129	N	0.511	0.54234	-0.7748	0.56592	T	0.183	0.53057	T	10	0.0074103773	0.00168	T	0.023001	0.45934	T	0.146	0.38789	.	.	0.51934374132	0.51577	0.6156560191690597	0.63771	0.83950470327	0.67976	0.509030818939	0.40086	T	0.043081	0.28208	T	-0.415408	0.01831	T	-0.365756	0.37384	T	0.0287620679148853	0.01801	T	0.985001	0.95043	D	0.13582772	0.31510	0.14967677	0.35330	0.13582772	0.31510	0.14967677	0.35329	-2.495	0.05747	T	.	.	0.109	0.36416	B	.;.;.;.;.;.	.;.;.;.;.;.	3.800706	0.54757	23.5	0.99780153710428798	0.86693	0.98807	0.87109	D	AEFBI	0.900865	0.84690	D	0.447333253201535	0.64053	4.651281	0.522144457008853	0.69481	5.366792	0.999997982895296	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	4.36	0.51643	5.984000	0.70228	.	.	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9307:0.0:0.0693:0.0	11.888	0.51893	196	0.92420	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2277.98	33	chr5	140538215	.	A	G	2277.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.94;DP=888;ExcessHet=0.0000;FS=0.521;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=0.515;SOR=0.742	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1216	20	0	1	0
chr5	140551983	140551983	C	G	exonic	SRA1	.	nonsynonymous SNV	SRA1:NM_001035235:exon3:c.G353C:p.R118T,	.	.	.	.	.	.	.	.	.	0.0001	0.106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	B	0.078	B	0.048	U	1.000	N	0.345	N	1.02	T	-1.012	T	0.054	T	0.12	1.239	10.03	-2.52	-0.354	0.348	11.613	0.041	0.00952525607919	.	.	1.666e-05	0	0	0	0	3.015e-05	0	0	1.29e-05	2	154602	rs776684988	1.368e-06	1.368e-06	0	2.751e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	0.16038	T	0.393	0.15355	T	0.049	0.22227	B	0.078	0.28627	B	0.048479	0.23249	U	0.413152	0.999974	0.18612	N	1.385	0.34509	L	1.02	0.40749	T	-1.55	0.37566	N	0.34	0.38129	-1.0120	0.26291	T	0.054	0.22693	T	9	0.15706569	0.29567	T	0.009525	0.24924	T	0.041	0.10877	0.612	0.74535	0.277730125212	0.27379	0.362334424999958	0.36147	0.0405624064642	0.04348	.	.	.	0.008172	0.07514	T	-0.269295	0.11836	T	-0.609114	0.12057	T	0.0780497983729855	0.09736	T	0.682032	0.29067	T	0.28457317	0.51483	0.19588597	0.43290	0.28457317	0.51483	0.19588597	0.43289	-8.932	0.67258	D	.	.	0.158	0.34862	B	.	.	2.579989	0.33447	19.34	0.76071819971415067	0.11322	0.44663	0.27367	N	AEFDBCI	0.223932	0.34822	N	-0.898909738316224	0.10868	0.521527	-0.794543663318749	0.14628	0.7653404	0.994850932945683	0.33832	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.75	-2.52	0.05978	0.357000	0.19935	.	.	-0.919000	0.02208	0.996000	0.39380	0.987000	0.30940	0.637000	0.32341	0.0:0.2823:0.0:0.7177	11.613	0.50327	207	0.91931	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	431.98	33	chr5	140551983	.	C	G	431.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.870e-01;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.91;ReadPosRankSum=0.033;SOR=0.637	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1161	20	0	1	0
chr5	140558718	140558718	G	A	exonic	APBB3	.	nonsynonymous SNV	APBB3:NM_006051:exon12:c.C1349T:p.S450F	.	.	395	1116	10	1	0	12	0.00534759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.983	D	0.776	P	0.288	N	1.000	D	0.55	N	1.68	T	-1.014	T	0.106	T	0.582	4.151	21.5	4.76	2.198	2.807	14.693	0.146	.	0.0025	0.00299521	0.0034	0.0005	0.0017	0	0.0030	0.0050	0.0023	0.0019	0.003467	536	154602	rs148938296	0.0042	0.0042	0.0042	0.0041	0.0049	0.0041	0.0040	0.0048	0.0047	0.0008	0.0022	0.0007	0	0.0020	0.0040	0.0049	0.0035	0.0021	0.0029	0.0029	0.0029	0.0028	0.0050	0.0027	0.0026	0.0045	0.0043	0.0007	0	0.0025	0.0006	0	0.0014	0.0034	0.0050	0.0033	0.0023	0.001	0.78490	D	0.013	0.63918	D	0.983	0.60381	D	0.776	0.57120	P	0.288118	0.14819	N	0.631136	0.999071	0.81001	D	0.895	0.22405	L	1.68	0.27331	T	-1.9	0.44284	N	0.218	0.36148	-1.0144	0.25529	T	0.106	0.38685	T	9	0.0061609447	0.00139	T	.	.	.	0.146	0.38789	.	.	0.587119504466	0.58386	0.6069745111647697	0.60629	0.617409943644	0.56182	0.584734380245	0.50752	T	0.048863	0.28139	T	-0.385285	0.02884	T	-0.324293	0.42103	T	0.0271454059614276	0.01564	T	0.932107	0.74696	D	0.18576092	0.39953	0.2020007	0.44207	0.18576092	0.39953	0.2020007	0.44206	-5.06	0.41255	T	.	.	0.207	0.43380	B	.;.;.;.	.;.;.;.	4.136393	0.61934	24.4	0.99809110668185963	0.89353	0.88120	0.47910	D	AEFDBCI	0.575737	0.57801	D	0.27409462159115	0.54840	3.648657	0.328694986249366	0.57233	3.888237	0.999999999897684	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.696353	0.63694	0	0.528226	0.09195	0	.	.	4.76	4.76	0.60189	1.779000	0.38254	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	14.693	0.68712	214	0.91692	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1120.98	34	chr5	140558718	.	G	A	1120.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.00;DP=795;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=-1.880e-01;SOR=0.754	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1185	20	0	1	0
chr5	140567368	140567368	T	C	exonic	SLC35A4	.	nonsynonymous SNV	SLC35A4:NM_080670:exon3:c.T199C:p.F67L,	.	.	393	1127	1	1	0	3	0.0013292	.	.	3484396	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.118	N	1.000	N	0.49	N	-0.24	T	-1.034	T	0.124	T	0.076	0.027	4.154	2.76	0.430	0.205	5.093	0.080	0.0227415159379	7.7e-05	0.000199681	0.0001	0	0	0	0	0.0002	0	0.0001	0.0001229	19	154602	rs140110376	0.0001	0.0001	0.0001	0.0001	0.0014	0.0001	0.0001	0.0007	0.0005	0	0.0001	0	0	0	0.0014	0.0002	0.0002	0.0001	0.0001	0.0001	6.423e-05	0.0002	0.0004	8.16e-05	6.717e-05	0.0001	8.878e-05	4.809e-05	0	0	0	0	9.406e-05	0	0.0002	0.0005	0.0004	0.811	0.03028	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.118320	0.19119	N	0.556056	0.999999	0.08975	N	0	0.06538	N	-0.24	0.66834	T	0.01	0.06868	N	0.032	0.00825	-1.0344	0.19046	T	0.124	0.42799	T	9	0.020243376	0.00463	T	0.022742	0.45655	T	0.080	0.23350	0.531	0.63855	0.151104730317	0.14643	0.12332820674443024	0.12258	0.123196650637	0.13880	0.580125212669	0.50103	T	0.00604	0.05478	T	-0.432657	0.01429	T	-0.558934	0.16477	T	0.0133498318795385	0.00241	T	0.461354	0.13375	T	0.032793235	0.03371	0.035667084	0.02861	0.032793235	0.03371	0.035667084	0.02861	-0.085	0.00380	T	.	.	0.209	0.43775	B	.;.;.	.;.;.	0.836083	0.12076	8.630	0.78057545200330181	0.12137	0.11376	0.16593	N	AEFBCI	0.142040	0.26437	N	-0.646462245218893	0.17563	0.904829	-0.524358838131172	0.21492	1.162917	0.999819791306014	0.43459	0.706548	0.73137	0	0.685571	0.66316	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.16	2.76	0.31527	0.265000	0.18282	.	.	0.644000	0.52426	0.000000	0.06391	0.999000	0.35428	0.977000	0.56843	0.0:0.2312:0.1448:0.624	5.093	0.14056	218	0.91525	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2804.98	34	chr5	140567368	.	T	C	2804.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.633e+00;DP=896;ExcessHet=0.0000;FS=0.561;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.67;ReadPosRankSum=-5.410e-01;SOR=0.647	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1251	20	0	1	0
chr5	140632205	140632205	G	C	exonic	CD14	.	nonsynonymous SNV	CD14:NM_000591:exon2:c.C779G:p.S260W	.	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.951	D	0.310	N	1.000	D	2.625	M	2.09	T	-0.913	T	0.150	T	0.415	3.025	16.09	5.02	2.832	2.105	13.159	0.261	.	.	0.00339457	0.0009	0	0	0	0	0	0	0.0064	0.0008085	125	154602	rs544582497	0.0004	0.0004	0.0002	0.0006	0.0068	0.0004	0.0004	0.0063	0.0061	0	0	0	2.52e-05	0	0.0002	1.799e-06	0.0003	0.0068	0.0003	0.0003	0.0002	0.0004	0.0089	0.0002	0.0002	0.0068	0.0061	0	0	6.532e-05	0	0	0	0	0	0	0.0089	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.951	0.68939	D	0.310345	0.14445	N	0.591478	0.999712	0.48481	D	3.025	0.86340	M	2.09	0.20122	T	-4.55	0.78553	D	0.502	0.53445	-0.9135	0.46415	T	0.150	0.47822	T	10	0.015656829	0.00329	T	.	.	.	0.261	0.57352	0.599	0.72984	0.807289371328	0.80548	0.4169758240951955	0.41613	1.67717565842	0.89934	0.434538125992	0.29830	T	0.510112	0.82663	D	-0.400882	0.02284	T	-0.345865	0.39678	T	0.271299400904519	0.23803	T	0.908009	0.67517	D	0.4408472	0.63457	0.45733038	0.68463	0.4408472	0.63458	0.45733038	0.68463	-6.281	0.48571	T	.	.	0.200	0.42491	B	.;.	.;.	4.678418	0.74840	26.2	0.9892774312116005	0.48695	0.67983	0.33632	D	AEFDGBCI	0.685983	0.64780	D	0.66035866279194	0.77039	6.598906	0.597632147274719	0.74769	6.193838	0.999999624053404	0.74766	0.455138	0.09556	0	0.606814	0.50340	0	0.608075	0.38828	0	0.56751	0.32155	0	.	.	5.96	5.02	0.66742	1.856000	0.39028	.	.	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.582000	0.30943	0.0:0.0:0.8304:0.1696	13.159	0.58953	217	0.91564	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1503.98	34	chr5	140632205	.	G	C	1503.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.38;DP=891;ExcessHet=0.0000;FS=2.240;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.22;ReadPosRankSum=0.604;SOR=0.483	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1134	20	0	1	0
chr5	140671309	140671309	G	C	exonic	DND1	.	nonsynonymous SNV	DND1:NM_194249:exon4:c.C1046G:p.T349S,	.	.	403	1044	75	0	0	75	0.0346741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.0	B	0.001	B	0.988	N	1.000	N	0.55	N	1.54	T	-1.001	T	0.040	T	0.049	1.043	9.262	0.117	0.101	0.583	3.914	0.029	0.00299662886539	.	.	0.0003	0.0001	0	0	0	0.0005	0	0	0.0002135	33	154602	rs201638404	2.076e-05	0.0028	1.515e-05	2.644e-05	0.0019	1.473e-05	1.278e-05	0.0010	0.0008	0	0	3.843e-05	0	9.62e-05	0.0019	9.11e-06	0	4.646e-05	6.594e-06	0.0002	1.289e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	0.218	0.19090	T	0.063	0.45110	T	0.0	0.02946	B	0.001	0.04355	B	0.987573	0.07881	N	1.006470	1	0.08975	N	0.695	0.17993	N	1.54	0.30133	T	-0.59	0.17624	N	0.037	0.01135	-1.0009	0.29660	T	0.040	0.17362	T	10	0.034810185	0.01704	T	0.002997	0.06427	T	0.029	0.06676	0.1	0.01484	0.161926535498	0.15789	0.40438706048263123	0.40354	0.637984465512	0.57542	0.34559237957	0.17271	T	0.102753	0.41077	T	-0.360183	0.04119	T	-0.755154	0.03289	T	0.0211142783198718	0.00813	T	0.279972	0.04873	T	0.042993844	0.06623	0.025890457	0.00652	0.042993844	0.06622	0.025890457	0.00652	-2.879	0.08935	T	.	.	0.074	0.05017	B	.	.	1.151131	0.15394	11.82	0.72799346766082673	0.10100	0.21105	0.21283	N	AEFDGBCI	0.089470	0.18134	N	-0.982930631239168	0.08968	0.4225575	-0.985513379254524	0.10110	0.5071382	0.999349824977441	0.39222	0.751926	0.98777	0	0.702456	0.74545	0	0.639134	0.45391	0	0.635551	0.53088	0	.	.	4.97	0.117	0.13957	0.698000	0.25249	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.697000	0.34049	0.3271:0.0:0.5115:0.1614	3.914	0.08714	176	0.93188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	312.34	36	chr5	140671309	.	G	C	312.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=3.57;DP=1033;ExcessHet=0.0000;FS=6.576;InbreedingCoeff=-0.0379;MLEAC=1;MLEAF=0.025;MQ=46.43;MQRankSum=-4.654e+00;QD=12.01;ReadPosRankSum=-2.566e+00;SOR=3.293	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1093	19	0	1	1
chr5	140786949	140786949	C	A	exonic	PCDHA1	.	nonsynonymous SNV	PCDHA1:NM_018900:exon1:c.C659A:p.P220Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.001	U	1.000	D	4.07	H	0.51	T	0.388	D	0.500	T	0.618	3.482	17.82	4.19	2.059	7.724	16.871	0.478	0.0644882458768	0.0009	0.000599042	0.0003	0.0019	0.0003	0	0	0.0002	0.0011	0	0.0002523	39	154602	rs149577981	0.0002	0.0002	0.0002	0.0001	0.0026	0.0001	0.0001	0.0022	0.0020	0.0026	0.0007	0	0	0	0.0010	7.554e-05	0.0003	1.159e-05	0.0010	0.0010	0.0009	0.0011	0.0027	0.0009	0.0008	0.0023	0.0022	0.0027	0	0.0017	0	0	0	0.0034	7.35e-05	0.0024	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000661	0.42656	U	0.000000	0.999419	0.49637	D	3.985	0.96662	H	0.51	0.55439	T	-7.52	0.95511	D	0.635	0.80572	0.388	0.88909	D	0.500	0.81091	T	10	0.10058892	0.18328	T	0.064488	0.69294	D	0.478	0.76946	.	.	0.871671135437	0.87042	0.2652070297385214	0.26433	0.971337437332	0.73375	.	.	.	0.427812	0.77716	T	-0.224236	0.17419	T	-0.100424	0.63365	T	0.258169126413849	0.23235	T	0.991581	0.97347	D	0.8010245	0.83971	0.8099672	0.88898	0.8010245	0.83972	0.8099672	0.88898	-10.702	0.78140	D	.	.	0.324	0.63100	B	.;.;.	.;.;.	4.370399	0.67286	25.1	0.99057717882984875	0.51413	0.99508	0.96874	D	AEFDBI	0.878409	0.80366	D	0.864117441316384	0.89897	10.16432	0.699167843085057	0.82313	7.736776	0.999999998811577	0.74766	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.19	4.19	0.48645	7.903000	0.86133	.	.	0.599000	0.40250	1.000000	0.71638	0.968000	0.29604	0.980000	0.58198	0.0:1.0:0.0:0.0	16.871	0.85906	19	0.98577	.;.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2636.98	36	chr5	140786949	.	C	A	2636.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.49;DP=920;ExcessHet=0.0000;FS=6.598;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=0.512;SOR=0.434	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1261	20	0	1	0
chr5	140787137	140787137	A	G	exonic	PCDHA1	.	nonsynonymous SNV	PCDHA1:NM_018900:exon1:c.A847G:p.S283G	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.065	B	0.154	B	0.107	U	1.000	N	1.385	L	4.08	T	-0.956	T	0.011	T	0.035	0.019	4.114	1.41	0.569	0.075	3.908	0.020	0.00400950442297	.	.	2.473e-05	0	0	0	0	2.999e-05	0.0011	0	1.94e-05	3	154602	rs782040077	1.368e-05	1.368e-05	1.361e-05	1.375e-05	0.0005	8.94e-06	7.26e-06	0.0001	7.541e-05	0	2.239e-05	0	0	0	0.0005	1.349e-05	1.656e-05	0	1.313e-05	1.313e-05	1.284e-05	1.344e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	1.47e-05	0	0	0.182	0.28520	T	0.21	0.26714	T	0.053	0.23521	B	0.031	0.34351	B	0.107284	0.19577	U	0.424135	1	0.08975	N	1.76	0.45711	L	4.08	0.03003	T	-2.97	0.62747	D	0.019	0.00717	-0.9557	0.39970	T	0.011	0.03996	T	10	0.06553456	0.08856	T	0.00401	0.09525	T	0.020	0.03691	0.293	0.25560	0.302459207581	0.29844	0.033563949502938645	0.03304	0.280792333993	0.30555	.	.	.	0.248289	0.61807	T	-0.429791	0.01487	T	-0.791495	0.02124	T	0.166309356689453	0.18325	T	0.157784	0.01407	T	0.0842751	0.19500	0.072396174	0.15614	0.0842751	0.19500	0.072396174	0.15613	-5.94	0.47346	T	.	.	0.066	0.02639	B	.;.;.	.;.;.	1.960801	0.24906	16.57	0.86089766213253616	0.16306	0.05006	0.10783	N	AEFDGBI	0.101323	0.20352	N	-0.785690990854002	0.13682	0.6757875	-0.814810053453028	0.14137	0.7371124	0.287347400820363	0.19050	0.516011	0.20929	0	0.573888	0.26702	0	0.576033	0.28219	0	0.586402	0.36253	0	.	.	4.06	1.41	0.21461	0.031000	0.13598	.	.	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.073000	0.16832	0.6398:0.0:0.2004:0.1598	3.908	0.08691	19	0.98577	.;.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2992.98	231	chr5	140787137	.	A	G	2992.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.163e+00;DP=1079;ExcessHet=0.0000;FS=1.008;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.96;ReadPosRankSum=0.167;SOR=0.776	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1261	20	0	1	0
chr5	140788052	140788052	G	A	exonic	PCDHA1	.	nonsynonymous SNV	PCDHA1:NM_018900:exon1:c.G1762A:p.G588S	.	.	418	1100	4	0	0	4	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.988	D	0.954	D	0.031	N	1.000	D	3.485	M	0.56	T	-0.094	T	0.386	T	0.201	2.549	14.48	2.47	0.508	7.507	10.412	0.304	.	.	0.00219649	0.0003	0	0	0	0	0	0	0.0022	0.000304	47	154602	rs573116174	0.0001	0.0001	6.807e-05	0.0002	0.0019	0.0001	0.0001	0.0016	0.0016	0	0	0	0	0	0	1.529e-05	6.624e-05	0.0019	0.0001	0.0001	7.706e-05	0.0001	0.0033	6.505e-05	5.317e-05	0.0021	0.0017	0	0	0	0	0	0	0	0	0	0.0033	0.004	0.65419	D	0.002	0.79402	D	0.988	0.62325	D	0.915	0.69447	D	0.031369	0.25177	N	0.187417	0.902909	0.81001	D	3.295	0.90403	M	0.56	0.54540	T	-5.84	0.88431	D	0.211	0.48227	-0.0938	0.80241	T	0.386	0.74128	T	10	0.03943792	0.02435	T	.	.	.	0.304	0.62510	0.874	0.96529	0.809092775902	0.80730	0.561317527747877	0.56058	0.973992778713	0.73480	.	.	.	0.567091	0.85604	D	-0.389248	0.02720	T	-0.339168	0.40438	T	0.441755553855455	0.30494	T	0.844715	0.52235	T	0.398715	0.60643	0.42098552	0.66044	0.398715	0.60644	0.42098552	0.66045	-10.873	0.80067	D	.	.	0.152	0.37350	B	.;.	.;.	2.953320	0.39306	20.9	0.99600250706613236	0.74160	0.98256	0.80988	D	AEFDBI	0.786029	0.71624	D	0.358293787256204	0.59179	4.095187	0.109290897836092	0.45023	2.772931	0.998747326556251	0.37581	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	3.36	2.47	0.29113	7.640000	0.82502	.	.	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.147000	0.20199	0.0996:0.0:0.9004:0.0	10.412	0.43482	18	0.98631	.;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	5494.98	227	chr5	140788052	.	G	A	5494.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.46;DP=3598;ExcessHet=0.0000;FS=2.445;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.34;ReadPosRankSum=0.835;SOR=0.898	GT:AD:DP:GQ:PL	0/0:238,0:238:99:0,120,1800	20	0	1	0
chr5	140788503	140788503	C	T	exonic	PCDHA1	.	nonsynonymous SNV	PCDHA1:NM_018900:exon1:c.C2213T:p.T738I	.	.	423	1060	38	1	0	40	0.0185185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.26	B	0.135	B	0.377	U	1.000	N	2.75	M	2.69	T	-1.005	T	0.023	T	0.104	0.363	5.972	-6.43	-1.862	-4.251	3.890	0.041	.	0.0058	0.00479233	0.0063	0.0010	0.0022	0	0.0011	0.0082	0.0088	0.0101	0.0060995	943	154602	rs13176401	0.0070	0.0070	0.0068	0.0072	0.0123	0.0069	0.0069	0.0104	0.0102	0.0011	0.0027	0.0242	5.038e-05	0.0007	0.0123	0.0072	0.0074	0.0110	0.0053	0.0053	0.0060	0.0046	0.0073	0.0050	0.0049	0.0068	0.0066	0.0015	0	0.0063	0.0262	0.0004	0.0008	0.0102	0.0073	0.0071	0.0072	0.026	0.46910	D	0.289	0.21078	T	0.079	0.31497	B	0.135	0.33210	B	0.377027	0.04397	U	1.564530	1	0.08975	N	2.98	0.85499	M	2.69	0.12268	T	-3.01	0.64246	D	0.094	0.24758	-1.0051	0.28427	T	0.023	0.09650	T	10	0.0038641095	0.00073	T	.	.	.	0.041	0.10877	.	.	0.146414634003	0.14194	0.4992395497059017	0.49844	0.509160944495	0.49056	.	.	.	0.330682	0.70084	T	-0.653046	0.00069	T	-0.70287	0.05670	T	0.0360362763197902	0.02986	T	0.877312	0.59062	D	0.068108805	0.14811	0.1010875	0.24189	0.068108805	0.14811	0.1010875	0.24188	-5.73	0.46687	T	.	.	0.117	0.23605	B	.;.	.;.	0.117301	0.05153	1.676	0.90841325934908235	0.20090	0.01400	0.04746	N	AEFDBI	0.057516	0.10720	N	-1.38394634931916	0.02788	0.1236151	-1.60201900919824	0.01643	0.07457226	0.881550449451469	0.25634	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	4.16	-6.43	0.01754	-2.791000	0.00837	.	.	-0.896000	0.02358	0.000000	0.06391	0.000000	0.08366	0.043000	0.14563	0.2076:0.1868:0.4658:0.1398	3.890	0.08619	18	0.98631	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	4721.98	145	chr5	140788503	.	C	T	4721.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.330e+00;DP=2440;ExcessHet=0.0000;FS=8.913;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.16;ReadPosRankSum=1.66;SOR=0.375	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:166,0:166:99:.:.:0,120,1800	20	0	1	0
chr5	140796088	140796088	C	T	exonic	PCDHA2	.	nonsynonymous SNV	PCDHA2:NM_018905:exon1:c.C1124T:p.S375L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.902	P	0.413	B	0.002	U	1.000	N	1.625	L	0.65	T	-1.019	T	0.107	T	0.482	1.088	9.442	4.12	2.003	0.249	7.576	0.151	0.025918676997	7.7e-05	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs371276136	8.209e-06	8.893e-06	8.167e-06	8.25e-06	8.961e-05	4.38e-06	3.46e-06	2.374e-05	1.258e-05	8.961e-05	0	0	0	0	0	8.093e-06	0	0	6.569e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.136	0.39820	T	0.106	0.37872	T	0.88	0.49745	P	0.413	0.44885	B	0.001726	0.38161	U	0.000000	0.999975	0.18612	N	1.76	0.45711	L	0.65	0.52642	T	-4.97	0.82063	D	0.122	0.11340	-1.0192	0.23975	T	0.107	0.38857	T	10	0.4895926	0.60912	T	0.025919	0.48863	D	0.151	0.39764	.	.	0.588470723157	0.58522	0.10432712618644004	0.10362	.	.	.	.	.	0.057594	0.30609	T	-0.106243	0.35389	T	-0.374901	0.36317	T	0.663314580917358	0.39042	D	0.893711	0.63166	D	0.19291459	0.40979	0.23799689	0.49111	0.19291459	0.40979	0.23799689	0.49110	-7.455	0.57822	T	.	.	0.11	0.21201	B	.;.;.	.;.;.	3.911470	0.57044	23.8	0.99456859947135323	0.65581	0.19434	0.20659	N	AEFDBCI	0.102896	0.20629	N	-0.313038599801853	0.28652	1.582157	-0.43934442381062	0.23852	1.302959	0.0207629581474276	0.13289	0.646311	0.45356	0	0.588015	0.36545	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.12	4.12	0.47504	-0.097000	0.11010	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.183000	0.21389	0.1625:0.7497:0.0:0.0878	7.576	0.27104	18	0.98631	.;.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	5907.98	39	chr5	140796088	.	C	T	5907.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.878;DP=1280;ExcessHet=0.0000;FS=0.518;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.58;ReadPosRankSum=-1.602e+00;SOR=0.728	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1620	20	0	1	0
chr5	140796738	140796738	G	T	exonic	PCDHA2	.	nonsynonymous SNV	PCDHA2:NM_018905:exon1:c.G1774T:p.A592S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.534	P	0.236	B	0.098	U	1.000	N	1.505	L	0.62	T	-1.016	T	0.102	T	0.15	1.955	12.50	1.65	0.097	-0.542	6.735	0.069	0.0326572259776	.	.	8.246e-06	9.621e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs782449118	6.157e-06	6.156e-06	4.084e-06	8.251e-06	0.0005	2.9e-06	2.1e-06	0.0001	7.541e-05	0.0001	0	0	0	0	0.0005	0	1.656e-05	0	1.97e-05	1.97e-05	2.568e-05	1.344e-05	7.234e-05	5.24e-06	2.45e-06	1.918e-05	1.032e-05	7.234e-05	0	0	0	0	0	0	0	0	0	0.017	0.51248	D	0.025	0.56192	D	0.534	0.37787	P	0.183	0.38470	B	0.098435	0.19981	U	0.309511	1	0.81001	D	1.96	0.53105	M	0.62	0.53302	T	-2.03	0.48687	N	0.101	0.11054	-1.0163	0.24916	T	0.102	0.37718	T	10	0.18627658	0.34086	T	0.032657	0.54424	D	0.069	0.20116	0.696	0.83313	0.458734620958	0.45498	0.25009900685227393	0.24923	.	.	.	.	.	0.02059	0.16185	T	-0.315258	0.07293	T	-0.509095	0.21408	T	0.116915583610535	0.14124	T	0.470053	0.13899	T	0.10881634	0.25728	0.10469229	0.25150	0.10881634	0.25728	0.10469229	0.25149	-8.946	0.69337	D	.	.	0.110	0.21087	B	.;.;.	.;.;.	2.189752	0.27918	17.62	0.99319741586925792	0.59317	0.30514	0.24102	N	AEFDBI	0.300062	0.40895	N	-0.480309535167035	0.22727	1.215558	-0.539812688313986	0.21076	1.138495	0.0142423363829538	0.12572	0.700653	0.57754	0	0.573888	0.26702	0	0.717052	0.78885	0	0.604944	0.38103	0	.	.	3.91	1.65	0.23015	-0.335000	0.07917	.	.	0.586000	0.30580	0.000000	0.06391	0.000000	0.08366	0.074000	0.16894	0.359:0.0:0.641:0.0	6.735	0.22591	18	0.98631	.;.;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	6169.98	39	chr5	140796738	.	G	T	6169.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.790e-01;DP=1310;ExcessHet=0.0000;FS=0.523;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=-2.240e-01;SOR=0.620	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1620	20	0	1	0
chr5	140807609	140807609	C	T	exonic	PCDHA4	.	nonsynonymous SNV	PCDHA4:NM_018907:exon1:c.C422T:p.S141F	.	.	416	1102	3	1	0	5	0.00226347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.001	B	0.007	B	0.119	N	1.000	N	0.225	N	0.45	T	-1.063	T	0.055	T	0.054	-2.150	0.005	-1.36	-0.367	-0.234	1.509	0.022	0.00520267107011	.	0.000599042	0.0004	9.612e-05	8.637e-05	0	0	0.0006	0.0011	0.0001	1.94e-05	3	154602	rs554905188	0.0001	0.0003	0.0002	0.0001	0.0010	0.0001	0.0001	0.0005	0.0003	2.987e-05	0.0002	0.0017	0	1.872e-05	0.0010	0.0001	0.0003	5.797e-05	0.0003	0.0005	0.0004	0.0003	0.0008	0.0003	0.0002	0.0005	0.0004	7.22e-05	0	0.0008	0.0035	0	0	0	0.0003	0.0014	0.0004	0.833	0.02989	T	0.322	0.20745	T	0.0	0.07471	B	0.001	0.12992	B	0.118539	0.19110	N	0.377447	0.99999	0.08975	N	0.19	0.09125	N	0.45	0.56446	T	4.68	0.00031	N	0.066	0.09914	-1.0631	0.10997	T	0.055	0.23148	T	10	0.007317841	0.00166	T	0.005203	0.13248	T	0.022	0.04323	0.391	0.41443	0.263612267334	0.25957	0.09540722780455586	0.09472	.	.	.	.	.	0.037532	0.24508	T	-0.308192	0.07907	T	-0.680473	0.06954	T	0.0274341311002883	0.01606	T	0.0107989	0.00060	T	0.044188913	0.07020	0.05917365	0.11061	0.044188913	0.07020	0.05917365	0.11061	-0.215	0.00521	T	.	.	0.068	0.02733	B	.;.;.;.	.;.;.;.	0.077254	0.04842	1.439	0.92261435063528452	0.21644	0.04351	0.09918	N	ALL	0.050295	0.08777	N	-1.5048277468585	0.01818	0.07968396	-1.50160000301753	0.02332	0.1070999	0.999869121481555	0.44398	0.525926	0.21836	0	0.615948	0.52940	0	0.47417	0.07244	0	0.554799	0.18163	0	.	.	4.62	-1.36	0.08610	-0.133000	0.10430	.	.	-0.834000	0.02848	0.000000	0.06391	0.000000	0.08366	0.108000	0.18652	0.115:0.21:0.2617:0.4132	1.509	0.02342	20	0.98525	Cadherin-like;.;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1336.98	239	chr5	140807609	.	C	T	1336.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.01;DP=3053;ExcessHet=0.0000;FS=3.824;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.60;MQRankSum=-9.522e+00;QD=5.48;ReadPosRankSum=-3.996e+00;SOR=1.045	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:228,0:228:99:.:.:0,120,1800	20	0	1	0
chr5	140809487	140809487	C	T	exonic	PCDHA4	.	nonsynonymous SNV	PCDHA4:NM_018907:exon1:c.C2300T:p.T767I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.851	P	0.747	P	0.325	U	1.000	N	2.56	M	2.56	T	-1.104	T	0.070	T	0.135	2.179	13.24	1.83	1.866	1.000	7.176	0.038	0.0106105532058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.012	0.66756	D	0.851	0.46962	P	0.747	0.55931	P	0.325137	0.14206	U	0.550409	1	0.08975	N	3.45	0.92227	M	2.56	0.13673	T	-3.88	0.72710	D	0.131	0.16028	-1.1043	0.03609	T	0.070	0.28708	T	10	0.13798487	0.26245	T	0.010611	0.27345	T	0.038	0.09825	0.21	0.12781	0.547298545107	0.54385	0.4819830526488957	0.48118	.	.	.	.	.	0.250005	0.62004	T	-0.211909	0.19111	T	-0.542169	0.18084	T	0.909835696220398	0.56487	D	0.824718	0.49813	T	0.15666945	0.35344	0.248551	0.50409	0.15666945	0.35343	0.248551	0.50408	-9.134	0.71504	D	.	.	0.230	0.51600	B	.;.;.;.	.;.;.;.	2.660589	0.34663	19.69	0.99773797120886365	0.86174	0.18346	0.20223	N	AEFBCI	0.117756	0.23054	N	-0.0463086132692053	0.39766	2.350515	-0.156098478083075	0.33176	1.894948	0.0481403187831926	0.14757	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	3.83	1.83	0.24279	0.397000	0.20608	.	.	0.599000	0.40250	0.019000	0.19563	0.001000	0.17328	0.985000	0.61073	0.314:0.4679:0.218:0.0	7.176	0.24919	21	0.98493	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1828.98	39	chr5	140809487	.	C	T	1828.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.96;DP=959;ExcessHet=0.0000;FS=6.886;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=-1.630e-01;SOR=1.210	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,99,1485	20	0	1	0
chr5	140823093	140823093	G	T	exonic	PCDHA5	.	nonsynonymous SNV	PCDHA5:NM_018908:exon1:c.G1318T:p.V440L	.	.	400	1120	2	0	0	2	0.000892061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.091	B	0.349	B	.	.	0.978	N	-0.81	N	0.05	T	-0.930	T	0.102	T	0.232	0.211	5.139	2.09	0.238	-1.796	3.010	0.067	0.0238198111629	0.0002	.	9.098e-05	0.0004	0	0.0001	0	7.529e-05	0	6.061e-05	9.06e-05	14	154602	rs147205231	4.036e-05	4.036e-05	4.629e-05	3.438e-05	0.0002	3.179e-05	2.911e-05	0.0001	8.676e-05	0.0002	2.236e-05	3.828e-05	0	1.875e-05	0	3.867e-05	6.624e-05	1.159e-05	5.911e-05	5.909e-05	3.853e-05	8.066e-05	0.0001	3.076e-05	2.209e-05	6.28e-05	4.297e-05	0.0001	0	0	0	0	0	0	2.94e-05	0.0005	0	0.429	0.09572	T	0.297	0.20551	T	0.091	0.25247	B	0.03	0.42787	B	.	.	.	.	0.977911	0.25282	N	0.625	0.15840	N	0.05	0.61923	T	-2.19	0.49352	N	0.169	0.32591	-0.9298	0.44168	T	0.102	0.37819	T	9	0.04619035	0.03780	T	0.02382	0.46796	T	0.067	0.19503	0.567	0.68901	0.497547018531	0.49389	0.14242149814918673	0.14165	0.436062898333	0.43710	.	.	.	0.007874	0.07247	T	-0.394036	0.02533	T	-0.507589	0.21563	T	0.0305260581874572	0.02071	T	0.60094	0.22456	T	0.08116678	0.18637	0.10627451	0.25563	0.08116678	0.18637	0.10627451	0.25562	-7.54	0.57891	D	.	.	0.1	0.23570	B	.;.;.	.;.;.	1.218248	0.16117	12.33	0.92820302432864887	0.22348	0.10350	0.15881	N	AEFGBHCI	0.167121	0.29377	N	-0.826263893417367	0.12641	0.6174753	-0.710953422374481	0.16689	0.8839897	3.51965224812883E-4	0.06668	0.553676	0.25195	0	0.588015	0.36545	0	0.603688	0.36954	0	0.542086	0.14980	0	.	.	3.98	2.09	0.26154	-1.826000	0.01799	.	.	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.306000	0.24642	0.0886:0.1556:0.3383:0.4176	3.010	0.05676	28	0.98252	.;.;Cadherin-like|Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2414.98	133	chr5	140823093	.	G	T	2414.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.86;DP=2066;ExcessHet=0.0000;FS=1.009;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.32;ReadPosRankSum=0.246;SOR=0.640	GT:AD:DP:GQ:PL	0/0:98,0:98:99:0,120,1800	20	0	1	0
chr5	140842421	140842421	C	T	exonic	PCDHA8	.	nonsynonymous SNV	PCDHA8:NM_018911:exon1:c.C1100T:p.T367I	.	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.995	D	0.945	D	0.002	U	1.000	N	2.395	M	0.35	T	-0.343	T	0.329	T	0.7	4.532	24.4	3.57	1.709	3.194	15.579	0.398	0.0266040147946	0.001	0.000599042	0.0003	0.0019	0.0003	0	0	0.0002	0.0011	0	0.0002717	42	154602	rs142074942	0.0002	0.0002	0.0002	0.0002	0.0027	0.0002	0.0002	0.0022	0.0021	0.0027	0.0007	0	0	3.745e-05	0.0023	0.0001	0.0003	1.159e-05	0.0010	0.0010	0.0009	0.0011	0.0027	0.0009	0.0008	0.0023	0.0022	0.0027	0	0.0017	0	0	0	0.0034	8.826e-05	0.0024	0	0.006	0.61437	D	0.01	0.70582	D	0.993	0.67487	D	0.942	0.68163	D	0.001964	0.37549	U	0.000000	1	0.81001	D	3.31	0.90591	M	0.35	0.58029	T	-5.73	0.87611	D	0.641	0.65416	-0.3429	0.73759	T	0.329	0.69674	T	10	0.13645485	0.25963	T	0.026604	0.49502	D	0.398	0.71242	.	.	0.767570153291	0.76544	0.46623142669597106	0.46542	.	.	.	.	.	0.089133	0.38307	T	-0.219384	0.18078	T	-0.0934538	0.63901	T	0.0698950236669835	0.08636	T	0.864814	0.56255	D	0.5285738	0.68750	0.5590209	0.74488	0.5285738	0.68751	0.5590209	0.74488	-11.176	0.81246	D	.	.	0.277	0.51050	B	.;.	.;.	3.481322	0.48618	22.6	0.99821457333126595	0.90414	0.89902	0.50675	D	AEFDGBCI	0.466319	0.51402	N	0.293513188981482	0.55819	3.746027	0.134735302186989	0.46336	2.881423	0.961409727576456	0.28552	0.553676	0.25195	0	0.588015	0.36545	0	0.536957	0.11973	0	0.613276	0.41899	0	.	.	3.57	3.57	0.40014	2.700000	0.46753	.	.	0.465000	0.21702	0.981000	0.35396	0.000000	0.08366	0.037000	0.13953	0.0:1.0:0.0:0.0	15.579	0.76157	32	0.98147	.;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	5106.98	158	chr5	140842421	.	C	T	5106.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.370e-01;DP=2322;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.59;MQRankSum=0.025;QD=12.13;ReadPosRankSum=-6.940e-01;SOR=0.653	GT:AD:DP:GQ:PL	0/0:112,0:112:99:0,120,1800	20	0	1	0
chr5	140848613	140848613	G	A	exonic	PCDHA9	.	nonsynonymous SNV	PCDHA9:NM_014005:exon1:c.G118A:p.E40K	.	.	442	1033	39	8	0	55	0.0259312	.	.	3206704	PCDHA9-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	.	.	1.000	N	-0.555	N	1.58	T	-0.980	T	0.012	T	0.125	-0.311	2.521	2.52	0.116	-0.206	5.411	0.052	.	.	0.0071885	0.0074	0.0009	0.0061	0.0002	0.0014	0.0089	0.0090	0.0120	0.0013831	36	26028	rs147099629	0.0023	0.0049	0.0021	0.0026	0.0088	0.0023	0.0023	0.0068	0.0061	0.0007	0.0027	0.0133	0.0001	0.0011	0.0088	0.0018	0.0042	0.0063	0.0060	0.0077	0.0066	0.0053	0.0165	0.0056	0.0055	0.0136	0.0125	0.0012	0.0011	0.0078	0.0220	0	0.0011	0.0243	0.0081	0.0082	0.0165	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	-0.23	0.03940	N	1.58	0.29085	T	3.13	0.00124	N	0.075	0.04913	-0.9802	0.34955	T	0.012	0.04510	T	9	0.0044157207	0.00090	T	.	.	.	0.052	0.14661	.	.	0.234412748748	0.23057	0.5052483064863803	0.50446	.	.	.	.	.	0.001452	0.00908	T	-0.333893	0.05823	T	-0.71739	0.04923	T	0.0084557951795491	0.00102	T	0.563244	0.19836	T	0.0642428	0.13609	0.09128216	0.21453	0.0642428	0.13609	0.09128216	0.21452	2.727	0.00027	T	.	.	0.046	0.00059	B	.;.	.;.	1.464343	0.18873	13.97	0.89844929437015786	0.19152	0.02988	0.07843	N	AEFDBCI	0.041598	0.06346	N	-1.19300097945347	0.05105	0.2319599	-1.04312973743705	0.08850	0.4372199	2.36115250011173E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.584449	0.35598	0	.	.	3.73	2.52	0.29514	-0.511000	0.06404	.	.	-0.096000	0.16002	0.000000	0.06391	0.000000	0.08366	0.432000	0.27494	0.5631:0.274:0.1628:0.0	5.411	0.15649	32	0.98147	Cadherin, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1522.11	146	chr5	140848613	.	G	A	1522.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.19;DP=2530;ExcessHet=0.1072;FS=1.159;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.14;MQRankSum=-6.435e+00;QD=4.70;ReadPosRankSum=0.165;SOR=0.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:48,0:48:99:.:.:0,120,1800	19	0	2	0
chr5	140848623	140848623	C	A	exonic	PCDHA9	.	nonsynonymous SNV	PCDHA9:NM_014005:exon1:c.C128A:p.T43N	.	.	443	1034	37	8	0	53	0.0249882	.	.	2708536	not_specified|PCDHA9-related_disorder	MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.041	B	0.066	B	.	.	1.000	D	3.94	H	0.86	T	-0.451	T	0.158	T	0.383	3.815	19.37	3.73	2.051	2.379	16.078	0.160	.	0.0007	.	0.0065	0.0007	0.0050	0.0002	0.0012	0.0079	0.0090	0.0106	0.0010373	27	26028	rs186780543	0.0020	0.0040	0.0019	0.0022	0.0078	0.0020	0.0020	0.0059	0.0053	0.0005	0.0023	0.0118	0.0001	0.0010	0.0078	0.0016	0.0037	0.0049	0.0054	0.0076	0.0059	0.0049	0.0155	0.0051	0.0050	0.0126	0.0116	0.0008	0.0011	0.0072	0.0208	0	0.0011	0.0210	0.0074	0.0082	0.0155	0.01	0.57480	D	0.007	0.69154	D	0.02	0.21357	B	0.066	0.27432	B	.	.	.	.	1	0.81001	D	3.795	0.95366	H	0.86	0.46777	T	-4.79	0.80682	D	0.492	0.52563	-0.4510	0.70367	T	0.158	0.49043	T	9	0.010096908	0.00226	T	.	.	.	0.160	0.41473	.	.	0.657190473102	0.65432	0.714719429081555	0.71414	.	.	.	.	.	0.05186	0.28997	T	-0.0681011	0.41629	T	-0.335599	0.40841	T	0.188936567630157	0.19782	T	0.706229	0.32195	T	0.86958146	0.88828	0.8837174	0.93823	0.86958146	0.88830	0.8837174	0.93823	-12.312	0.86338	D	.	.	0.168	0.39865	B	.;.	.;.	3.811784	0.54986	23.6	0.98409677605635093	0.41159	0.70468	0.34603	D	AEFDBCI	0.520398	0.54527	D	-0.0215671095811526	0.40880	2.43543	-0.0540870625360181	0.37315	2.183088	0.999957572808903	0.48110	0.553676	0.25195	0	0.588015	0.36545	0	0.491614	0.08109	1	0.584449	0.35598	0	.	.	3.73	3.73	0.41982	2.076000	0.41172	.	.	0.545000	0.25583	0.003000	0.16062	0.000000	0.08366	0.779000	0.36868	0.0:1.0:0.0:0.0	16.078	0.80787	32	0.98147	Cadherin, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1300.11	146	chr5	140848623	.	C	A	1300.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.05;DP=2548;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.19;MQRankSum=-6.974e+00;QD=3.85;ReadPosRankSum=-6.260e-01;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:48,0:48:99:.:.:0,120,1800	19	0	2	0
chr5	140849019	140849019	A	G	exonic	PCDHA9	.	nonsynonymous SNV	PCDHA9:NM_014005:exon1:c.A524G:p.N175S	.	.	430	1084	7	1	0	9	0.00413413	.	.	2825267	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.55	T	0.051	B	0.07	B	0.113	N	1.000	N	1.765	L	0.73	T	-0.983	T	0.067	T	0.031	1.179	9.795	-3.55	-0.805	-0.114	8.909	0.106	0.00457859111907	0.0067	0.00159744	0.0062	0.0018	0.0048	0.0007	0.0035	0.0098	0.0054	0.0009	0.0013447	35	26028	rs144148683	0.0092	0.0095	0.0096	0.0089	0.0113	0.0091	0.0090	0.0111	0.0111	0.0016	0.0037	0.0015	0.0004	0.0036	0.0019	0.0113	0.0064	0.0006	0.0051	0.0057	0.0057	0.0045	0.0093	0.0048	0.0047	0.0087	0.0085	0.0013	0	0.0029	0.0019	0.0008	0.0024	0	0.0093	0.0027	0.0002	0.414	0.17701	T	0.223	0.33219	T	0.051	0.22415	B	0.07	0.27859	B	0.113132	0.19328	N	0.248113	1	0.81001	D	1.24	0.30952	L	0.73	0.50721	T	-2.55	0.59389	D	0.103	0.08646	-0.9829	0.34328	T	0.067	0.27399	T	10	0.006038487	0.00136	T	0.004579	0.11315	T	0.106	0.30130	.	.	0.399596177874	0.39575	0.14593835870146085	0.14515	.	.	.	.	.	0.033316	0.22864	T	-0.606109	0.00134	T	-0.688962	0.06449	T	0.0111972318146314	0.00164	T	0.80032	0.44736	T	0.054480493	0.10457	0.06389361	0.12723	0.054480493	0.10457	0.06389361	0.12722	-5.295	0.39894	T	.	.	0.053	0.00248	B	.;.	.;.	0.988433	0.13663	10.20	0.87836055382102796	0.17517	0.13875	0.18100	N	AEFDGBCI	0.145452	0.26866	N	-0.900258380287799	0.10836	0.5198317	-0.941970033878938	0.11110	0.5639968	0.00175298078908001	0.08850	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.12	-3.55	0.04343	-0.080000	0.11303	.	.	0.686000	0.82685	0.000000	0.06391	0.000000	0.08366	0.678000	0.33484	0.3989:0.1107:0.4903:0.0	8.909	0.34700	32	0.98147	Cadherin-like|Cadherin-like;.	PCDHB17P|TMCO6	Adipose_Subcutaneous|Thyroid	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1539.98	39	chr5	140849019	.	A	G	1539.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.100e-01;DP=946;ExcessHet=0.0000;FS=5.481;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=45.11;MQRankSum=-3.122e+00;QD=9.81;ReadPosRankSum=0.847;SOR=0.368	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1521	20	0	1	0
chr5	140850017	140850017	G	A	exonic	PCDHA9	.	nonsynonymous SNV	PCDHA9:NM_014005:exon1:c.G1522A:p.V508M	.	.	424	1061	33	4	0	41	0.0189552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.95	D	0.013	U	1.000	N	2.68	M	0.11	T	-0.732	T	0.258	T	0.48	2.804	15.34	3.56	1.973	0.146	4.962	0.300	.	0.0034	0.0081869	0.0078	0.0007	0.0033	0.0003	0.0032	0.0054	0.0078	0.0308	0.0070633	1092	154602	rs149779533	0.0058	0.0058	0.0050	0.0067	0.0305	0.0057	0.0057	0.0295	0.0291	0.0007	0.0028	0.0104	0.0030	0.0043	0.0090	0.0042	0.0060	0.0305	0.0042	0.0042	0.0038	0.0046	0.0296	0.0039	0.0038	0.0256	0.0241	0.0007	0	0.0050	0.0117	0.0017	0.0030	0.0103	0.0043	0.0067	0.0296	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.95	0.68788	D	0.013244	0.28902	U	0.000000	1	0.81001	D	2.865	0.83145	M	0.11	0.61208	T	-2.89	0.60827	D	0.286	0.32370	-0.7319	0.58867	T	0.258	0.62834	T	10	0.008924365	0.00202	T	.	.	.	0.300	0.62068	.	.	0.699004069071	0.69640	0.19655199186583552	0.19572	.	.	.	.	.	0.080859	0.36462	T	-0.367512	0.03722	T	-0.278369	0.46971	T	0.0443135886129694	0.04477	T	0.950905	0.81262	D	0.29469377	0.52425	0.2953771	0.55569	0.29469377	0.52424	0.2953771	0.55568	-8.262	0.62842	D	.	.	0.519	0.65448	A	.;.	.;.	2.831974	0.37339	20.5	0.99825595724751592	0.90764	0.08827	0.14698	N	AEFBI	0.138797	0.26020	N	0.21702517213743	0.52026	3.379325	0.0612865957479353	0.42620	2.581126	1.06077236194766E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.56	3.56	0.39892	-0.382000	0.07466	.	.	-0.318000	0.05900	0.000000	0.06391	0.000000	0.08366	0.548000	0.30127	0.2898:0.0:0.7102:0.0	4.962	0.13417	32	0.98147	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	5727.11	201	chr5	140850017	.	G	A	5727.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.90;DP=3558;ExcessHet=0.1072;FS=5.854;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.64;MQRankSum=0.490;QD=14.61;ReadPosRankSum=1.01;SOR=0.479	GT:AD:DP:GQ:PL	0/0:212,0:212:99:0,120,1800	19	0	2	0
chr5	140850693	140850693	C	G	exonic	PCDHA9	.	nonsynonymous SNV	PCDHA9:NM_014005:exon1:c.C2198G:p.A733G	.	.	442	1030	45	5	0	55	0.0260047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.003	B	0.006	N	1.000	N	-0.78	N	2.77	T	-0.924	T	0.009	T	0.081	-2.413	0.003	1.5	0.043	-0.047	13.667	0.041	.	0.0005	0.00678914	0.0063	0.0002	0.0015	0.0001	0	0.0007	0.0111	0.0415	0.0054333	840	154602	rs138234390	0.0030	0.0030	0.0018	0.0041	0.0394	0.0029	0.0029	0.0383	0.0378	0.0002	0.0012	0.0014	0.0002	0	0.0105	0.0005	0.0040	0.0394	0.0016	0.0016	0.0010	0.0021	0.0340	0.0014	0.0013	0.0297	0.0280	0.0003	0	0.0015	0.0006	0	0	0.0210	0.0004	0.0014	0.0340	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.08700	B	0.006390	0.32067	N	0.000000	0.999999	0.08975	N	-0.99	0.01185	N	2.77	0.11407	T	2.36	0.00310	N	0.083	0.05929	-0.9242	0.44971	T	0.009	0.03403	T	10	0.0024614036	0.00037	T	.	.	.	0.041	0.10877	.	.	0.239305524855	0.23518	0.07940304107957419	0.07875	.	.	.	.	.	1.62E-4	0.00025	T	-0.693607	0.00040	T	-0.819536	0.01462	T	0.00586151255596773	0.00064	T	0.20168	0.03740	T	0.018968089	0.00421	0.046305787	0.06424	0.018968089	0.00421	0.046305787	0.06423	-4.812	0.37939	T	.	.	0.062	0.04041	B	.;.	.;.	-0.193616	0.03122	0.499	0.60644728228370959	0.06513	0.00357	0.01833	N	AEFDBI	0.033054	0.03850	N	-1.5191799375624	0.01723	0.07544431	-1.44704006132078	0.02797	0.1293107	1.79492614263866E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.51	1.5	0.22029	-0.767000	0.04826	.	.	-0.448000	0.05150	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.476:0.5239:0.0	13.667	0.61877	32	0.98147	Cadherin, cytoplasmic C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	4021.98	311	chr5	140850693	.	C	G	4021.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=3610;ExcessHet=0.0000;FS=1.943;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=0.230;SOR=0.581	GT:AD:DP:GQ:PL	0/0:212,0:212:99:0,120,1800	20	0	1	0
chr5	140856707	140856707	A	C	exonic	PCDHA10	.	nonsynonymous SNV	PCDHA10:NM_018901:exon1:c.A659C:p.E220A	.	.	440	1076	5	1	0	7	0.00324224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.158	B	0.135	B	.	.	1.000	N	1	L	2.17	T	-1.037	T	0.040	T	0.564	0.339	5.837	4.29	1.931	-0.260	7.380	0.140	.	.	0.00219649	0.0011	9.69e-05	0	0	0	4.548e-05	0.0022	0.0074	0.0008991	139	154602	rs554030052	0.0005	0.0005	0.0002	0.0007	0.0072	0.0004	0.0004	0.0068	0.0066	6e-05	2.259e-05	0	0	0	0.0026	1.637e-05	0.0004	0.0072	0.0003	0.0003	0.0002	0.0005	0.0103	0.0003	0.0002	0.0080	0.0072	0	0	6.687e-05	0	0	0	0	1.491e-05	0	0.0103	0.171	0.22746	T	0.404	0.14818	T	0.158	0.28271	B	0.135	0.33210	B	.	.	.	.	0.999999	0.08975	N	0.225	0.09600	N	2.17	0.19020	T	-5.79	0.88065	D	0.383	0.61933	-1.0367	0.18326	T	0.040	0.17362	T	9	0.005007416	0.00108	T	.	.	.	0.140	0.37593	0.266	0.21261	0.557050979708	0.55364	0.13658186344295195	0.13582	.	.	.	.	.	0.067153	0.33129	T	-0.198513	0.21020	T	-0.415269	0.31618	T	0.0580580925008944	0.06860	T	0.857914	0.54791	D	0.27070516	0.50142	0.25105646	0.50709	0.27070516	0.50142	0.25105646	0.50708	-6.207	0.48904	T	.	.	0.084	0.09868	B	.;.;.	.;.;.	4.030923	0.59609	24.1	0.92371749510415224	0.21778	0.77147	0.37900	D	AEFDBI	0.239300	0.36128	N	-0.337047817953228	0.27751	1.525098	-0.257173805862139	0.29525	1.654833	0.0754902320945944	0.15698	0.653496	0.48692	0	0.547309	0.14657	0	0.596874	0.31795	0	0.584449	0.35598	0	.	.	4.29	4.29	0.50359	2.819000	0.47749	.	.	0.634000	0.51959	0.758000	0.29220	0.000000	0.08366	0.997000	0.79791	0.7141:0.1457:0.0:0.1402	7.380	0.26025	32	0.98147	.;.;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3054.98	34	chr5	140856707	.	A	C	3054.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.114;DP=889;ExcessHet=0.0000;FS=8.800;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.88;ReadPosRankSum=0.367;SOR=0.736	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1260	20	0	1	0
chr5	140870905	140870905	G	A	exonic	PCDHA11	.	nonsynonymous SNV	PCDHA11:NM_018902:exon1:c.G1802A:p.G601D	.	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	1.000	D	3.2	M	0.79	T	-0.109	T	0.358	T	0.634	2.481	14.26	3.91	1.018	4.277	12.766	0.452	0.123524857825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	.	.	.	.	1	0.81001	D	3.055	0.86842	M	0.79	0.49068	T	-6.66	0.92302	D	0.647	0.65844	-0.1093	0.79884	T	0.358	0.72030	T	9	0.93243444	0.92580	D	0.123525	0.80471	D	0.452	0.75211	0.927	0.98806	0.868164080552	0.86687	0.5778968754982532	0.57718	1.08659659648	0.77305	.	.	.	0.138823	0.47252	T	0.0585642	0.59433	T	-0.153653	0.58919	T	0.982961237430573	0.74811	D	0.943806	0.81587	D	0.70620406	0.78398	0.76267433	0.85979	0.70620406	0.78399	0.76267433	0.85980	-13.561	0.93571	D	.	.	0.832	0.83281	P	.;.	.;.	3.066769	0.41210	21.3	0.99617203932728615	0.75172	0.96461	0.69254	D	AEFDBI	0.772654	0.70691	D	0.518629447855488	0.68190	5.183473	0.362242262056283	0.59248	4.10112	0.999898584829608	0.45129	0.651	0.46895	0	0.588015	0.36545	0	0.65145	0.50148	0	0.562822	0.20929	0	.	.	4.78	3.91	0.44383	4.311000	0.58940	.	.	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.177000	0.21203	0.0806:0.0:0.9194:0.0	12.766	0.56767	50	0.97644	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3323.98	37	chr5	140870905	.	G	A	3323.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.495e+00;DP=1108;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.97;ReadPosRankSum=0.053;SOR=0.678	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr5	140876311	140876311	G	C	exonic	PCDHA12	.	nonsynonymous SNV	PCDHA12:NM_018903:exon1:c.G839C:p.G280A	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.005	B	0.033	B	.	.	1.000	N	-0.5	N	0.84	T	-1.034	T	0.048	T	0.096	0.785	8.141	-0.596	0.154	-2.781	3.370	0.039	0.00436000111258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.17	0.35582	T	0.002	0.12996	B	0.007	0.22329	B	.	.	.	.	1	0.08975	N	-0.435	0.02851	N	0.84	0.47477	T	0.91	0.01595	N	0.071	0.05414	-1.0343	0.19078	T	0.048	0.20434	T	9	0.053412974	0.05529	T	0.00436	0.10624	T	0.039	0.10176	0.498	0.58835	0.359763055319	0.35592	0.05684907494315386	0.05625	.	.	0.223926588893	0.01548	T	0.002218	0.01614	T	-0.302359	0.08439	T	-0.672094	0.07474	T	0.0665317244994423	0.08155	T	0.375462	0.08961	T	0.056248393	0.11040	0.07864988	0.17635	0.056248393	0.11039	0.07864988	0.17634	-1.632	0.02205	T	.	.	0.086	0.15430	B	.;.	.;.	1.912029	0.24286	16.34	0.92175235712842352	0.21540	0.02570	0.07113	N	AEFDBI	0.125910	0.24263	N	-0.959381346781453	0.09483	0.4490078	-0.876227040071358	0.12659	0.6524299	0.965745393465007	0.28853	0.65757	0.49021	0	0.573888	0.26702	0	0.619478	0.44681	0	0.63947	0.58350	0	.	.	5.07	-0.596	0.11072	-2.677000	0.00911	.	.	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.993000	0.69303	0.1521:0.3981:0.2986:0.1512	3.370	0.06797	65	0.97253	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2673.98	37	chr5	140876311	.	G	C	2673.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.804;DP=1177;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.07;ReadPosRankSum=0.156;SOR=0.701	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1303	20	0	1	0
chr5	140877285	140877285	G	T	exonic	PCDHA12	.	nonsynonymous SNV	PCDHA12:NM_018903:exon1:c.G1813T:p.A605S	.	.	417	1073	31	1	0	33	0.0151446	.	.	2825288	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.989	D	.	.	1.000	D	2.175	M	1.18	T	-0.721	T	0.168	T	0.331	3.612	18.38	4.71	2.156	3.954	17.27	0.276	0.0197981711577	0.0036	0.00279553	0.0040	0.0006	0.0010	0.0001	0.0020	0.0054	0.0033	0.0055	0.0041073	635	154602	rs76220347	0.0047	0.0047	0.0045	0.0049	0.0073	0.0046	0.0046	0.0056	0.0049	0.0007	0.0018	0.0087	2.519e-05	0.0016	0.0073	0.0051	0.0043	0.0054	0.0036	0.0036	0.0038	0.0034	0.0057	0.0033	0.0032	0.0052	0.0051	0.0006	0	0.0035	0.0086	0	0.0019	0.0034	0.0057	0.0033	0.0041	0.028	0.46129	D	0.052	0.47581	T	1.0	0.90584	D	0.954	0.78396	D	.	.	.	.	1	0.81001	D	1.64	0.41913	L	1.18	0.37746	T	-2.72	0.57920	D	0.213	0.25989	-0.7210	0.59414	T	0.168	0.50794	T	9	0.012135804	0.00262	T	0.019798	0.42253	T	0.276	0.59253	.	.	0.734974895143	0.73260	0.2244262043726725	0.22357	.	.	0.780401825905	0.78988	T	0.077468	0.35662	T	-0.437357	0.01340	T	-0.39909	0.33490	T	0.0216165376161506	0.00866	T	0.855914	0.55285	D	0.23279963	0.46074	0.28168145	0.54151	0.23279963	0.46074	0.28168145	0.54150	-9.022	0.69146	D	.	.	0.160	0.35310	B	.;.	.;.	3.454221	0.48119	22.6	0.99504588519091897	0.68264	0.97990	0.78686	D	AEFDBI	0.708097	0.66262	D	0.558929894263973	0.70627	5.529476	0.493415732069027	0.67551	5.099412	0.999999998772093	0.74766	0.475244	0.09938	2	0.588015	0.36545	0	0.641878	0.46077	1	0.562822	0.20929	0	.	.	4.71	4.71	0.59010	3.147000	0.50335	.	.	0.590000	0.31872	0.998000	0.41325	0.003000	0.18671	0.787000	0.37188	0.0:0.0:1.0:0.0	17.27	0.86984	67	0.97183	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	8178.11	37	chr5	140877285	.	G	T	8178.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=7.30;DP=1353;ExcessHet=0.1072;FS=8.103;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=0.848;SOR=0.948	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1303	19	0	2	0
chr5	140884535	140884535	C	G	exonic	PCDHA13	.	nonsynonymous SNV	PCDHA13:NM_018904:exon1:c.C2267G:p.P756R	.	.	419	1053	49	1	0	51	0.0236439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.001	B	0.002	B	.	.	1.000	N	0	N	2.9	T	-0.948	T	0.015	T	0.214	0.243	5.314	2.02	0.613	0.708	11.497	0.022	.	0.0004	0.00678914	0.0061	0.0002	0.0015	0.0002	0	0.0007	0.0100	0.0400	0.0052328	809	154602	rs142468733	0.0028	0.0028	0.0018	0.0039	0.0378	0.0028	0.0027	0.0367	0.0363	0.0002	0.0011	0.0012	0.0002	0	0.0097	0.0004	0.0037	0.0378	0.0015	0.0015	0.0010	0.0021	0.0328	0.0014	0.0013	0.0286	0.0270	0.0003	0	0.0014	0.0006	0	0	0.0205	0.0004	0.0014	0.0328	0.432	0.09486	T	0.344	0.35840	T	0.001	0.07471	B	0.001	0.06944	B	.	.	.	.	1	0.81001	D	0.49	0.13296	N	2.9	0.10101	T	1.29	0.00961	N	0.129	0.20262	-0.9477	0.41364	T	0.015	0.05897	T	9	0.0030344129	0.00050	T	.	.	.	0.022	0.04323	.	.	0.218112801441	0.21410	0.2361661489629874	0.23531	.	.	.	.	.	0.021645	0.16823	T	-0.618442	0.00112	T	-0.631849	0.10275	T	0.00878847322351521	0.00108	T	0.673133	0.30512	T	0.03787378	0.04938	0.0711216	0.15192	0.03787378	0.04938	0.0711216	0.15191	-2.804	0.25364	T	.	.	0.066	0.05404	B	.;.;.	.;.;.	1.321562	0.17257	13.05	0.75508712818316182	0.11102	0.24498	0.22412	N	AEFDBCI	0.157813	0.28338	N	-0.853937309411729	0.11953	0.5798126	-0.702588075416452	0.16896	0.8959734	0.0341342033371972	0.14140	0.475244	0.09938	2	0.573888	0.26702	0	0.641878	0.46077	1	0.613276	0.41899	0	.	.	4.61	2.02	0.25641	1.128000	0.30982	.	.	-0.045000	0.17359	0.036000	0.20778	0.655000	0.25985	0.707000	0.34357	0.5736:0.4264:0.0:0.0	11.497	0.49662	74	0.96871	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1982.98	134	chr5	140884535	.	C	G	1982.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.15;DP=938;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.80;ReadPosRankSum=-2.160e-01;SOR=0.738	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr5	140927687	140927687	-	G	exonic	PCDHAC1	.	frameshift insertion	PCDHAC1:NM_018898:exon1:c.796dupG:p.E267Gfs*23	.	.	432	1076	13	1	0	15	0.00692201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0004	9.614e-05	0.0007	0	0	0.0006	0.0011	0	0.0003946	61	154602	rs536640692	0.0003	0.0003	0.0003	0.0003	0.0114	0.0003	0.0003	0.0092	0.0084	0.0004	0.0006	0.0002	0	0	0.0114	0.0003	0.0005	9.275e-05	0.0004	0.0004	0.0002	0.0006	0.0008	0.0003	0.0003	0.0005	0.0004	2.405e-05	0	0.0008	0	0	0	0.0102	0.0006	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2038.94	33	chr5	140927687	.	T	TG	2038.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.340e-01;DP=1461;ExcessHet=0.0000;FS=1.214;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-1.149e+00;SOR=0.661	GT:AD:DP:GQ:PL	0/0:127,0:127:99:0,120,1800	20	0	1	0
chr5	141052976	141052976	T	G	exonic	PCDHB1	.	nonsynonymous SNV	PCDHB1:NM_013340:exon1:c.T1506G:p.F502L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.002	B	0.007	B	0.000	U	1.000	N	1.45	L	0.74	T	-1.014	T	0.090	T	0.219	2.052	12.82	-2.13	-0.229	-1.354	9.115	0.073	0.0148333928908	.	0.000199681	1.648e-05	0.0002	0	0	0	0	0	0	1.94e-05	3	154602	rs201337487	1.163e-05	1.163e-05	9.528e-06	1.375e-05	0.0004	7.08e-06	5.79e-06	0.0002	0.0002	0.0004	4.472e-05	0	0	0	0.0002	8.993e-07	1.656e-05	0	2.626e-05	2.625e-05	2.57e-05	2.685e-05	9.622e-05	8.14e-06	5.14e-06	3.242e-05	1.91e-05	9.622e-05	0	0	0	0	0	0	0	0	0	0.11	0.29158	T	0.168	0.30631	T	0.002	0.09854	B	0.007	0.12992	B	0.000454	0.44317	U	0.000000	0.999864	0.19989	N	0.595	0.15482	N	0.74	0.50459	T	-2.44	0.53420	N	0.367	0.40864	-1.0136	0.25784	T	0.090	0.34436	T	10	0.06678739	0.09212	T	0.014833	0.35199	T	0.073	0.21317	0.582	0.70861	0.350746614512	0.34690	0.1982535408841219	0.19742	1.27546691399	0.82394	0.597055077553	0.52488	T	0.005872	0.05316	T	-0.448408	0.01154	T	-0.602448	0.12606	T	0.0728370779845578	0.09043	T	0.522448	0.17034	T	0.13401051	0.31151	0.15794727	0.36909	0.13401051	0.31150	0.15794727	0.36908	-3.351	0.14404	T	.	.	0.795	0.77066	P	.	.	0.932267	0.13078	9.579	0.98294177069214839	0.39983	0.07137	0.13162	N	AEFBI	0.102043	0.20481	N	-0.839555521088072	0.12308	0.5991308	-0.781116501952321	0.14958	0.7843011	0.00597732982472728	0.11094	0.487112	0.14033	0	0.573888	0.26702	0	0.563428	0.18855	0	0.564101	0.26826	0	.	.	6.17	-2.13	0.06745	-2.264000	0.01255	.	.	-0.123000	0.13640	0.000000	0.06391	0.005000	0.19230	0.994000	0.71098	0.0:0.4576:0.1107:0.4317	9.115	0.35912	221	0.91431	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2767.98	35	chr5	141052976	.	T	G	2767.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.482e+00;DP=909;ExcessHet=0.0000;FS=4.084;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=-2.876e+00;SOR=0.980	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1478	20	0	1	0
chr5	141096081	141096081	C	A	exonic	PCDHB2	.	nonsynonymous SNV	PCDHB2:NM_018936:exon1:c.C1291A:p.P431T,	.	.	407	1061	53	1	0	55	0.0252641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	0.998	D	4.155	H	0.47	T	0.210	D	0.416	T	0.73	2.250	13.48	5.11	2.542	2.396	14.595	0.365	.	0.0038	0.00958466	0.0089	0.0003	0.0015	0.0003	0.0038	0.0050	0.0110	0.0421	0.0078977	1221	154602	rs116177548	0.0061	0.0061	0.0049	0.0073	0.0403	0.0060	0.0059	0.0392	0.0388	0.0010	0.0013	0.0061	0.0003	0.0030	0.0135	0.0040	0.0072	0.0403	0.0042	0.0043	0.0038	0.0047	0.0396	0.0040	0.0039	0.0350	0.0332	0.0009	0	0.0028	0.0063	0.0008	0.0039	0.0170	0.0043	0.0038	0.0396	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.998288	0.44722	D	4.53	0.99067	H	0.47	0.56114	T	-7.69	0.95603	D	0.109	0.09490	0.210	0.86076	D	0.416	0.76272	T	9	0.0071762204	0.00163	T	.	.	.	0.365	0.68495	.	.	0.612105117874	0.60898	0.40462831523539394	0.40378	.	.	0.502436220646	0.39167	T	0.168583	0.51564	T	-0.205426	0.20028	T	-0.0371565	0.67893	D	0.0867931227568148	0.10833	T	0.89531	0.63576	D	0.6614294	0.75975	0.67982537	0.81189	0.6614294	0.75976	0.67982537	0.81190	-12.058	0.85132	D	.	.	0.311	0.53838	B	.	.	3.332482	0.45886	22.2	0.99748695843572432	0.84077	0.94566	0.61582	D	AEFBI	0.362501	0.45174	N	0.709339028336467	0.80246	7.251683	0.535182317702874	0.70373	5.49572	0.999973434895134	0.50053	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.616125	0.45549	0	.	.	5.11	5.11	0.69188	2.517000	0.45189	.	.	0.599000	0.40250	0.824000	0.30046	0.964000	0.29435	0.076000	0.17014	0.1465:0.8535:0.0:0.0	14.595	0.67990	461	0.78683	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	9088.11	33	chr5	141096081	.	C	A	9088.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.10;DP=2166;ExcessHet=0.1072;FS=0.522;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.60;MQRankSum=2.78;QD=11.62;ReadPosRankSum=2.04;SOR=0.629	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1199	19	0	2	0
chr5	141100891	141100891	C	T	exonic	PCDHB3	.	nonsynonymous SNV	PCDHB3:NM_018937:exon1:c.C242T:p.T81I,	.	.	417	1102	3	0	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.228	B	0.236	B	.	.	0.930	N	3.92	H	0.81	T	-0.691	T	0.205	T	0.43	1.971	12.55	1.84	0.127	-0.287	9.438	0.168	0.0335709126266	0.0053	0.00199681	0.0054	0.0015	0.0038	0	0.0056	0.0083	0.0022	0.0004	0.0053686	830	154602	rs61739886	0.0063	0.0063	0.0064	0.0063	0.0073	0.0062	0.0062	0.0072	0.0071	0.0011	0.0045	0.0054	0	0.0062	0.0031	0.0073	0.0061	0.0007	0.0048	0.0048	0.0049	0.0046	0.0078	0.0045	0.0044	0.0066	0.0062	0.0022	0.0022	0.0078	0.0060	0	0.0040	0.0068	0.0063	0.0071	0.0002	0.003	0.68238	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.929739	0.27088	N	.	.	.	0.81	0.48460	T	-5.28	0.84246	D	0.416	0.45615	-0.6911	0.60857	T	0.205	0.56348	T	9	0.014072478	0.00297	T	0.033571	0.55073	D	0.168	0.42943	.	.	0.358134431457	0.35428	0.5159565114036697	0.51518	.	.	0.489960610867	0.37433	T	.	.	.	-0.426837	0.01549	T	-0.380349	0.35682	T	0.120424583927138	0.14471	T	0.936406	0.76145	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.59887	A	.	.	1.845851	0.23451	16.02	0.99511978831661008	0.68678	0.36613	0.25573	N	AEFBI	0.224300	0.34854	N	-0.273773664441853	0.30164	1.679415	-0.410476636156055	0.24690	1.353443	0.431710283080087	0.20377	0.493124	0.18060	0	0.573888	0.26702	0	0.694767	0.63188	0	0.564101	0.26826	0	.	.	4.7	1.84	0.24348	-0.352000	0.07750	.	.	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.996000	0.76049	0.4097:0.4579:0.1324:0.0	9.438	0.37814	484	0.77165	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1782.98	33	chr5	141100891	.	C	T	1782.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.520e-01;DP=1561;ExcessHet=0.0000;FS=5.402;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=-4.610e-01;SOR=0.614	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1223	20	0	1	0
chr5	141122851	141122851	G	C	exonic	PCDHB4	.	nonsynonymous SNV	PCDHB4:NM_018938:exon1:c.G853C:p.D285H,	.	.	416	1054	51	1	0	53	0.0245257	.	.	698863	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.05	D	0.592	P	0.824	P	.	.	0.996	D	1.41	L	-0.19	T	-0.439	T	0.277	T	0.31	2.719	15.05	4.41	2.449	1.433	17.554	0.163	.	0.0037	0.00958466	0.0091	0.0003	0.0015	0.0003	0.0038	0.0050	0.0111	0.0425	0.0078524	1214	154602	rs149340599	0.0061	0.0061	0.0049	0.0073	0.0409	0.0060	0.0060	0.0398	0.0393	0.0010	0.0013	0.0061	0.0003	0.0030	0.0139	0.0040	0.0072	0.0409	0.0042	0.0042	0.0038	0.0047	0.0402	0.0040	0.0039	0.0356	0.0338	0.0009	0	0.0028	0.0063	0.0008	0.0038	0.0170	0.0043	0.0038	0.0402	0.002	0.72154	D	0.052	0.47581	T	0.592	0.39119	P	0.824	0.59271	P	.	.	.	.	0.995638	0.42782	D	0.975	0.24501	L	-0.19	0.65931	T	-2.03	0.46673	N	0.132	0.12770	-0.4390	0.70763	T	0.277	0.64896	T	9	0.0023590326	0.00035	T	.	.	.	0.163	0.42028	.	.	0.624762870363	0.62171	0.18137512757830604	0.18056	.	.	0.355227172375	0.18689	T	0.027262	0.20004	T	-0.419304	0.01728	T	-0.344377	0.39848	T	0.0769435884720714	0.09592	T	0.70183	0.31167	T	0.4089323	0.61346	0.5137543	0.71903	0.4089323	0.61346	0.5137543	0.71904	-6.845	0.52893	T	.	.	0.115	0.23113	B	.	.	3.029406	0.40572	21.2	0.99417549142401851	0.63597	0.69254	0.34115	D	AEFBI	0.313196	0.41842	N	0.117199949162578	0.47266	2.954661	0.076161419448437	0.43353	2.63879	0.461169955851713	0.20625	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.41	4.41	0.52588	0.765000	0.26211	.	.	0.590000	0.31872	0.000000	0.06391	0.931000	0.28545	0.993000	0.69303	0.0:0.0:1.0:0.0	17.554	0.87781	520	0.74355	Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.04762	2166.11	104	chr5	141122851	.	G	C	2166.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.065e+00;DP=1646;ExcessHet=0.1072;FS=1.151;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=-2.400e-02;SOR=0.731	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1160	19	0	2	0
chr5	141137224	141137224	A	T	exonic	PCDHB5	.	nonsynonymous SNV	PCDHB5:NM_015669:exon1:c.A1790T:p.Q597L,	.	.	3	1518	1	0	0	1	0.000329272	.	.	3368043	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.992	D	.	.	0.633	N	1.835	L	0.7	T	-0.584	T	0.241	T	0.502	3.556	18.13	3.47	0.736	4.903	10.222	0.321	0.0337892163742	.	.	0.0001	0	0	0	0	0	0	0.0008	9.06e-05	14	154602	rs782784619	3.839e-05	3.899e-05	1.637e-05	6.063e-05	0.0006	3.032e-05	2.725e-05	0.0005	0.0004	0	0	0	0	0	0	8.996e-07	3.322e-05	0.0006	3.939e-05	3.937e-05	1.285e-05	6.713e-05	0.0012	1.714e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	0.632587	0.30685	N	.	.	.	0.7	0.51474	T	-6.16	0.90215	D	0.414	0.45426	-0.5841	0.65455	T	0.241	0.60869	T	9	0.32976887	0.50225	T	0.033789	0.55227	D	0.321	0.64318	0.717	0.85230	0.279370189704	0.27548	0.4360042676986643	0.43517	0.819490523936	0.67094	0.544960021973	0.45146	T	0.080027	0.36266	T	-0.266624	0.12137	T	-0.2566	0.49163	T	0.571434940462683	0.35289	D	0.588541	0.21576	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.52483	B	.;.	.;.	3.174943	0.43070	21.7	0.99315477813434283	0.59166	0.96315	0.68539	D	AEFBI	0.704147	0.65996	D	0.435668150790107	0.63396	4.572399	0.370861909742084	0.59775	4.158218	0.00459742344135931	0.10632	0.660377	0.49826	0	0.547309	0.14657	0	0.696353	0.63694	0	0.620846	0.47308	0	.	.	4.65	3.47	0.38831	4.979000	0.63525	.	.	0.377000	0.20376	0.944000	0.32806	0.997000	0.33255	0.618000	0.31844	0.9195:0.0:0.0805:0.0	10.222	0.42382	550	0.72197	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1446.98	122	chr5	141137224	.	A	T	1446.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.076e+00;DP=1409;ExcessHet=0.0000;FS=5.575;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.99;MQRankSum=7.23;QD=11.86;ReadPosRankSum=0.617;SOR=0.918	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1016	20	0	1	0
chr5	141173188	141173188	G	T	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G353T:p.R118L,	.	.	430	1091	0	1	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.884	P	0.577	P	.	.	0.745	N	2.785	M	0.68	T	-0.618	T	0.222	T	0.514	2.275	13.57	3.72	2.248	0.138	12.094	0.165	0.0368353614526	.	.	8.258e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs782647934	8.21e-06	8.209e-06	9.53e-06	6.876e-06	0.0002	4.38e-06	3.46e-06	4.55e-06	3.32e-06	0	0	0	0	0	0.0002	8.994e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.209	0.26798	T	0.884	0.48618	P	0.577	0.50090	P	.	.	.	.	0.745443	0.29692	N	3.26	0.89945	M	0.68	0.51952	T	-4.23	0.75935	D	0.274	0.31027	-0.6175	0.64092	T	0.222	0.58601	T	9	0.3033355	0.47865	T	0.036835	0.57242	D	0.165	0.42395	0.591	0.71999	0.626386034836	0.62333	0.20023411860270382	0.19940	0.151306516326	0.17079	0.251606941223	0.03939	T	0.029406	0.21077	T	-0.0649308	0.42134	T	-0.331045	0.41352	T	0.895951747894287	0.54759	D	0.439356	0.12115	T	0.18013853	0.39120	0.27108026	0.53005	0.18013853	0.39120	0.27108026	0.53004	-8.022	0.61220	D	.	.	0.158	0.34992	B	.	.	2.052133	0.26091	16.99	0.99574112145822968	0.72561	0.45228	0.27492	N	AEFBI	0.316987	0.42111	N	0.236240678289581	0.52961	3.467411	0.14466343023555	0.46860	2.925169	0.825155962269917	0.24594	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.61	3.72	0.41857	0.183000	0.16729	.	.	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.965000	0.52897	0.086:0.0:0.914:0.0	12.094	0.53042	651	0.62880	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1765.98	101	chr5	141173188	.	G	T	1765.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=1091;ExcessHet=0.0000;FS=3.348;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.84;ReadPosRankSum=-2.458e+00;SOR=0.553	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1143	20	0	1	0
chr5	141173765	141173765	G	C	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G930C:p.E310D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	N	3	M	-0.65	T	-0.346	T	0.537	D	0.586	2.417	14.04	-1.57	-0.340	0.442	10.905	0.474	0.202633084596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999782	0.20372	N	3.055	0.86842	M	-0.65	0.72237	T	-2.94	0.61435	D	0.544	0.57092	-0.3457	0.73678	T	0.537	0.82887	D	9	0.9353602	0.92867	D	0.202633	0.86831	D	0.474	0.76685	0.817	0.93127	0.794638162076	0.79272	0.2056605258777981	0.20483	0.542382466446	0.51350	0.462000310421	0.33585	T	0.126879	0.45355	T	0.0487642	0.58182	T	-0.16773	0.57650	T	0.970979869365692	0.69145	D	0.909209	0.67884	D	0.39501306	0.60385	0.42082992	0.66034	0.39501306	0.60386	0.42082992	0.66034	-11.333	0.81453	D	.	.	0.814	0.77941	P	.	.	2.079273	0.26445	17.12	0.996342216413029	0.76264	0.23594	0.22126	N	AEFDBI	0.227155	0.35101	N	0.0545368441754623	0.44352	2.710791	-0.191872681521743	0.31834	1.805331	0.0134669852051686	0.12468	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.61	-1.57	0.08055	0.632000	0.24273	.	.	0.676000	0.76740	0.107000	0.22934	0.000000	0.08366	0.938000	0.47775	0.5702:0.0:0.4298:0.0	10.905	0.46286	652	0.62785	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	69.11	136	chr5	141173765	.	G	C	69.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.822e+00;DP=1723;ExcessHet=0.1072;FS=310.904;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.19;ReadPosRankSum=0.985;SOR=8.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:159,25:194:44:.:.:44,0,4963	19	0	2	0
chr5	141173766	141173766	G	C	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G931C:p.A311P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.758	P	0.516	P	.	.	1.000	N	1.855	L	4.57	T	-0.969	T	0.012	T	0.448	1.619	11.37	2.79	0.455	-0.994	4.291	0.054	0.0073481168098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	1.163e-05	0	1.376e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.29823	T	0.088	0.40586	T	0.758	0.43456	P	0.516	0.48072	P	.	.	.	.	1	0.08975	N	1.905	0.50856	L	4.57	0.01917	T	-1.9	0.44284	N	0.19	0.20793	-0.9688	0.37448	T	0.012	0.04463	T	9	0.14442283	0.27407	T	0.007348	0.19496	T	0.054	0.15330	0.24	0.17218	0.297718772494	0.29385	0.23022774839758178	0.22937	0.259062600134	0.28458	0.285979688168	0.08340	T	0.007225	0.06645	T	-0.192082	0.21952	T	-0.513689	0.20937	T	0.239479869604111	0.22395	T	0.0113989	0.00062	T	0.14268309	0.32824	0.21860704	0.46570	0.14268309	0.32824	0.21860704	0.46569	-8.191	0.62365	D	.	.	0.557	0.67107	A	.	.	1.047924	0.14288	10.87	0.99254472283569606	0.56989	0.18010	0.20081	N	AEFDBI	0.376982	0.46093	N	-0.355294400045894	0.27079	1.482807	-0.435194067126652	0.23971	1.310156	0.0246842635642356	0.13596	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.61	2.79	0.31792	-0.037000	0.12116	.	.	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.2524:0.0:0.5847:0.1629	4.291	0.10325	652	0.62785	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2917	971.06	186	chr5	141173766	.	G	C,A	971.06	.	AC=5,2;AF=0.208,0.083;AN=24;BaseQRankSum=-4.234e+00;DP=3548;ExcessHet=2.5830;FS=244.867;InbreedingCoeff=-0.3782;MLEAC=7,3;MLEAF=0.292,0.125;MQ=60.00;MQRankSum=0.00;QD=0.77;ReadPosRankSum=0.532;SOR=10.819	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:133,0,0:133:0:.:.:0,0,2847,0,2847,2847	5	0	5	9
chr5	141173766	141173766	G	A	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G931A:p.A311T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.002	B	0.006	B	.	.	1.000	N	-0.505	N	4.98	T	-0.901	T	0.002	T	0.037	-0.559	1.475	2.79	0.455	-0.994	4.291	0.017	0.00591327826065	.	.	2.478e-05	9.839e-05	8.639e-05	0	0	0	0	6.072e-05	3.23e-05	5	154602	rs201447017	4.724e-05	4.721e-05	5.722e-05	3.716e-05	6.725e-05	3.797e-05	3.479e-05	4.009e-05	3.661e-05	5.986e-05	6.725e-05	0	0	0	0	5.13e-05	9.943e-05	1.16e-05	8.561e-05	8.542e-05	0.0001	5.395e-05	0.0001	4.968e-05	3.971e-05	6.299e-05	4.31e-05	0.0001	0	6.553e-05	0	0	0	0	7.357e-05	0.0005	0	0.798	0.03134	T	0.395	0.15255	T	0.002	0.09854	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	0.075	0.08292	N	4.98	0.01344	T	0.37	0.03639	N	0.033	0.00882	-0.9010	0.47889	T	0.002	0.00769	T	9	0.028985262	0.01027	T	0.005913	0.15400	T	0.017	0.02790	0.197	0.10975	0.167679373172	0.16340	0.04559477965422199	0.04503	0.115026090571	0.12974	0.266463220119	0.05685	T	9.28E-4	0.00478	T	-0.542484	0.00324	T	-0.820046	0.01452	T	0.00890818803132437	0.00111	T	0.0506449	0.00361	T	0.02743792	0.01935	0.058982458	0.10991	0.02743792	0.01935	0.058982458	0.10991	-3.738	0.19880	T	.	.	0.072	0.04277	B	.	.	0.118537	0.05166	1.684	0.78187323793622165	0.12193	0.06778	0.12801	N	AEFDBI	0.084714	0.17170	N	-1.0643960782247	0.07308	0.3390868	-0.930179356539086	0.11384	0.5796107	0.0246842635642356	0.13596	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.61	2.79	0.31792	-0.037000	0.12116	.	.	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.2524:0.0:0.5847:0.1629	4.291	0.10325	652	0.62785	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2917	971.06	186	chr5	141173766	.	G	C,A	971.06	.	AC=5,2;AF=0.208,0.083;AN=24;BaseQRankSum=-4.234e+00;DP=3548;ExcessHet=2.5830;FS=244.867;InbreedingCoeff=-0.3782;MLEAC=7,3;MLEAF=0.292,0.125;MQ=60.00;MQRankSum=0.00;QD=0.77;ReadPosRankSum=0.532;SOR=10.819	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:133,0,0:133:0:.:.:0,0,2847,0,2847,2847	5	0	5	9
chr5	141174246	141174246	G	C	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G1411C:p.G471R,	.	.	361	1128	33	0	0	33	0.0144168	.	.	2825306	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.1	T	1.0	D	1.0	D	.	.	1.000	N	3.055	M	3.61	T	-1.093	T	0.041	T	0.453	2.598	14.65	3.56	0.976	1.426	7.711	0.109	0.0164363675078	0.0031	0.00239617	0.0041	0.0005	0.0012	0	0.0014	0.0046	0.0055	0.0091	0.0036934	571	154602	rs71583630	0.0039	0.0039	0.0036	0.0042	0.0114	0.0038	0.0038	0.0090	0.0082	0.0009	0.0011	0.0103	2.519e-05	0.0020	0.0114	0.0037	0.0039	0.0089	0.0028	0.0028	0.0030	0.0026	0.0077	0.0026	0.0025	0.0057	0.0050	0.0006	0	0.0015	0.0092	0.0004	0.0013	0.0068	0.0041	0.0038	0.0077	0.008	0.58626	D	0.193	0.28210	T	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.08975	N	2.305	0.65957	M	3.61	0.04446	T	-7.82	0.95977	D	0.753	0.75192	-1.0933	0.05005	T	0.041	0.17488	T	9	0.014421403	0.00303	T	0.016436	0.37697	T	0.109	0.30843	.	.	0.501247319706	0.49760	0.39475670066175056	0.39390	0.497184019327	0.48212	0.66754424572	0.62487	T	0.103401	0.41202	T	-0.483557	0.00705	T	-0.461541	0.26431	T	0.0499114695675841	0.05485	T	0.814619	0.46840	T	0.659269	0.75860	0.68884367	0.81695	0.659269	0.75861	0.68884367	0.81696	-11.661	0.83161	D	.	.	0.732	0.74304	P	.	.	3.083277	0.41486	21.4	0.99835576582851426	0.91714	0.14876	0.18631	N	AEFDBI	0.129794	0.24810	N	0.345615472362603	0.58507	4.023498	0.187762801501309	0.49175	3.12396	0.0762146898005401	0.15720	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.44	3.56	0.39892	0.522000	0.22617	.	.	0.667000	0.69007	0.001000	0.13787	0.000000	0.08366	0.893000	0.43066	0.0857:0.0:0.7537:0.1606	7.711	0.27845	654	0.62520	Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	5141.98	292	chr5	141174246	.	G	C	5141.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.474;DP=4122;ExcessHet=0.0000;FS=2.441;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.88;MQRankSum=0.102;QD=12.73;ReadPosRankSum=0.933;SOR=0.544	GT:AD:DP:GQ:PL	0/0:136,0:136:99:0,120,1800	20	0	1	0
chr5	141174729	141174729	G	T	exonic	PCDHB7	.	stopgain	PCDHB7:NM_018940:exon1:c.G1894T:p.E632X,	.	.	12	1500	10	0	0	10	0.00332226	.	.	709673	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	7.208	38	3.98	1.922	4.242	16.106	.	.	0.0061	0.00259585	0.0069	0.0020	0.0052	0.0005	0.0056	0.0103	0.0034	0.0013	0.0061319	948	154602	rs17844473	0.0073	0.0076	0.0074	0.0072	0.0085	0.0072	0.0071	0.0078	0.0077	0.0014	0.0053	0.0209	0.0003	0.0057	0.0085	0.0079	0.0083	0.0018	0.0057	0.0060	0.0059	0.0054	0.0098	0.0054	0.0052	0.0085	0.0080	0.0024	0.0022	0.0098	0.0208	0.0008	0.0038	0.0068	0.0070	0.0071	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.02	0.00308	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292028	0.82322	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	8.932968	0.98226	39	0.99550681602039437	0.71148	0.98514	0.83591	D	AEFBI	0.098120	0.19778	N	0.919713972218835	0.92692	11.57176	0.721459277842431	0.84008	8.173929	0.999999733101605	0.74766	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.98	3.98	0.45383	7.516000	0.80673	.	.	0.477000	0.22036	1.000000	0.71638	1.000000	0.68203	0.301000	0.24523	0.0:0.0:1.0:0.0	16.106	0.81034	655	0.62421	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2143.11	134	chr5	141174729	.	G	T	2143.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.94;DP=2762;ExcessHet=0.1072;FS=0.600;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=55.43;MQRankSum=3.05;QD=5.29;ReadPosRankSum=0.014;SOR=0.622	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,104,1551	19	0	2	0
chr5	141178046	141178046	C	G	exonic	PCDHB8	.	nonsynonymous SNV	PCDHB8:NM_019120:exon1:c.C12G:p.S4R,	.	.	408	1091	20	2	1	25	0.0108794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.004	B	0.006	B	.	.	1.000	N	-0.635	N	0.89	T	-1.002	T	0.031	T	0.124	-0.286	2.633	-3.25	-0.312	-3.175	3.064	0.011	.	.	0.00319489	0.0006	0	0	0	0	0	0	0.0041	0.0001035	16	154602	rs139746961	0.0002	0.0002	9.395e-05	0.0003	0.0031	0.0002	0.0002	0.0028	0.0027	0	0	0	0	0	0.0002	0	0.0001	0.0031	0.0001	0.0001	0.0001	0.0002	0.0040	8.676e-05	7.265e-05	0.0026	0.0022	2.418e-05	0	0	0	0	0	0	0	0	0.0040	0.807	0.03060	T	0.683	0.06052	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.89	0.45636	T	-0.19	0.09965	N	0.146	0.14763	-1.0016	0.29459	T	0.031	0.13286	T	9	0.004431993	0.00091	T	.	.	.	0.011	0.01250	0.277	0.23004	0.247872288689	0.24386	0.23063663795286632	0.22978	0.350356118389	0.36877	0.30044478178	0.10467	T	.	.	.	-0.649832	0.00073	T	-0.708005	0.05399	T	0.0111083768188328	0.00162	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.25946	B	.	.	1.143980	0.15312	11.76	0.70334129004772661	0.09262	0.01277	0.04462	N	AEFDGBHI	0.034347	0.04239	N	-1.56724184473475	0.01436	0.06265309	-1.56131216841397	0.01899	0.08660848	0.65902264758764	0.22250	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.34	-3.25	0.04765	-2.491000	0.01050	.	.	-0.268000	0.06776	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3321:0.3007:0.2832:0.084	3.064	0.05833	658	0.62094	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2035.98	43	chr5	141178046	.	C	G	2035.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=879;ExcessHet=0.0000;FS=0.586;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=52.30;MQRankSum=-3.348e+00;QD=12.80;ReadPosRankSum=-2.960e-01;SOR=0.616	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1248	20	0	1	0
chr5	141183583	141183583	G	C	exonic	PCDHB16	.	nonsynonymous SNV	PCDHB16:NM_020957:exon1:c.G1024C:p.D342H,	.	.	427	1085	9	1	0	11	0.00504356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.003	N	1.000	D	4.69	H	-0.15	T	0.542	D	0.490	T	0.925	3.345	17.26	4.47	2.025	9.792	17.150	0.633	.	0.0068	0.00259585	0.0068	0.0019	0.0052	0.0005	0.0056	0.0102	0.0033	0.0013	0.0068693	1062	154602	rs61742261	0.0076	0.0076	0.0077	0.0076	0.0083	0.0075	0.0074	0.0081	0.0081	0.0014	0.0055	0.0218	0.0003	0.0062	0.0080	0.0083	0.0086	0.0017	0.0060	0.0060	0.0062	0.0058	0.0106	0.0057	0.0055	0.0093	0.0087	0.0024	0.0022	0.0106	0.0219	0.0008	0.0041	0.0068	0.0074	0.0071	0.0010	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.003051	0.35512	N	0.000000	0.999944	0.51968	D	.	.	.	.	.	.	.	.	.	0.893	0.89242	0.542	0.91127	D	0.490	0.80604	T	10	0.01623705	0.00342	T	.	.	.	.	.	.	.	0.676244962836	0.67349	0.4705533006098668	0.46974	.	.	0.486633330584	0.36972	T	.	.	.	0.163144	0.70493	D	0.468534	0.93976	D	0.090607661262689	0.11291	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.836	0.79055	P	.	.	4.451023	0.69188	25.3	0.9943532704229604	0.64472	0.99506	0.96851	D	AEFDBI	0.914647	0.87832	D	0.89568349599403	0.91546	10.93874	0.685616396612004	0.81285	7.491369	0.999999999917951	0.74766	0.656854	0.48797	0	0.588066	0.40923	0	0.67347	0.61138	0	0.567892	0.33627	0	.	.	4.47	4.47	0.53770	9.982000	0.99168	.	.	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.188000	0.21541	0.0:0.0:1.0:0.0	17.150	0.86654	652	0.62785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	6072.11	100	chr5	141183583	.	G	C	6072.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.980;DP=1380;ExcessHet=0.1072;FS=1.090;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=1.01;SOR=0.769	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	19	0	2	0
chr5	141187956	141187956	C	G	exonic	PCDHB9	.	nonsynonymous SNV	PCDHB9:NM_019119:exon1:c.C638G:p.T213R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	9.889e-05	0	8.637e-05	0	0	0.0002	0	0	9.06e-05	14	154602	rs200481158	5.267e-05	6.567e-05	5.173e-05	5.363e-05	5.486e-05	4.278e-05	3.953e-05	4.351e-05	3.944e-05	2.987e-05	4.472e-05	0	5.038e-05	5.616e-05	0	5.486e-05	6.624e-05	4.637e-05	6.573e-05	6.567e-05	5.139e-05	8.075e-05	0.0001	3.518e-05	2.617e-05	5.843e-05	4.24e-05	2.413e-05	0	0	0	0	9.423e-05	0	0.0001	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	0.55453	.	.	.	.	.	.	.	0.38546106	0.54506	T	.	.	.	.	.	.	.	0.640445485288	0.63748	0.27298334010546904	0.27211	.	.	0.467571169138	0.34347	T	.	.	.	-0.0601641	0.42881	T	-0.0875295	0.64348	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13315	B	.	.	2.545543	0.32935	19.19	0.85378223061809277	0.15855	0.67289	0.33379	D	AEFDGBI	.	.	.	.	.	.	.	.	.	0.490918053600132	0.20862	0.090766	0.02384	0	0.060609	0.00678	0	0.129117	0.03641	0	0.062806	0.01542	0	0.599746	0.40809	3.3	1.39	0.21325	0.138000	0.15838	.	.	0.333000	0.19617	0.001000	0.13787	0.000000	0.08366	0.022000	0.11911	0.0:0.7987:0.0:0.2013	9.320	0.37119	664	0.61548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3170.98	46	chr5	141187956	.	C	G	3170.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=1579;ExcessHet=0.0000;FS=3.259;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.29;MQRankSum=3.48;QD=16.10;ReadPosRankSum=-5.000e-01;SOR=0.951	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1099	20	0	1	0
chr5	141188004	141188004	G	T	exonic	PCDHB9	.	nonsynonymous SNV	PCDHB9:NM_019119:exon1:c.G686T:p.R229L,	.	.	.	.	.	.	.	.	.	.	.	3368112	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.65e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs782120289	9.167e-05	9.166e-05	8.44e-05	9.901e-05	0.0001	7.891e-05	7.365e-05	0.0001	9.594e-05	2.987e-05	0	0	0	0	0	0.0001	1.656e-05	0	3.289e-05	3.941e-05	5.142e-05	1.347e-05	5.881e-05	1.262e-05	7.99e-06	1.972e-05	1.125e-05	2.416e-05	0	0	0	0	0	0	5.881e-05	0	0	.	.	.	0.301	0.20293	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.09349	.	.	.	.	.	.	.	0.11952537	0.22620	T	.	.	.	.	.	.	.	0.435808882951	0.43200	0.09243345553841123	0.09175	.	.	0.253832876682	0.04183	T	.	.	.	-0.226155	0.17160	T	-0.454975	0.27149	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.28521	B	.	.	-0.510197	0.01835	0.146	0.47423982575489765	0.03876	0.02068	0.06163	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.995831735592029	0.34354	0.090766	0.02384	0	0.060609	0.00678	0	0.129117	0.03641	0	0.062806	0.01542	0	0.0611257	0.14666	3.3	-6.6	0.01657	-3.733000	0.00427	.	.	-0.483000	0.05064	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3899:0.1032:0.2996:0.2074	1.388	0.02110	664	0.61548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2791.98	46	chr5	141188004	.	G	T	2791.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.870e-01;DP=1643;ExcessHet=0.0000;FS=0.598;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.93;MQRankSum=0.00;QD=17.02;ReadPosRankSum=-3.140e-01;SOR=0.609	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1099	20	0	1	0
chr5	141188838	141188838	A	G	exonic	PCDHB9	.	nonsynonymous SNV	PCDHB9:NM_019119:exon1:c.A1520G:p.N507S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.438e-05	0	0	0	0	0.0001	0	0	.	.	.	rs781875698	3.903e-05	3.899e-05	3.406e-05	4.404e-05	4.641e-05	3.05e-05	2.785e-05	1.583e-05	9.3e-06	0	0	0.0016	0	0	0	7.195e-06	4.978e-05	4.641e-05	3.943e-05	3.94e-05	3.854e-05	4.036e-05	1.47e-05	1.716e-05	1.13e-05	.	.	0	0	0	0.0014	0	0	0	1.47e-05	0	0	.	.	.	0.102	0.38450	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.38746	.	.	.	.	.	.	.	0.12034845	0.22794	T	.	.	.	.	.	.	.	0.591908371553	0.58867	0.09067800669123548	0.09000	.	.	0.628063440323	0.56871	T	.	.	.	-0.332309	0.05938	T	-0.512461	0.21061	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.27939	B	.	.	2.547814	0.32975	19.20	0.66207102220763292	0.07991	0.85823	0.45000	D	AEFDI	.	.	.	.	.	.	.	.	.	0.260737215597389	0.18786	0.162113	0.03585	0	0.097471	0.02872	0	0.175069	0.04249	0	0.092715	0.02821	0	0.603821	0.40874	3.15	3.15	0.35301	5.101000	0.64402	.	.	0.384000	0.20435	0.443000	0.26511	0.000000	0.08366	0.058000	0.15825	1.0:0.0:0.0:0.0	11.397	0.49088	667	0.61242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3754.98	40	chr5	141188838	.	A	G	3754.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.37;DP=1375;ExcessHet=0.0000;FS=3.266;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.99;MQRankSum=0.00;QD=13.56;ReadPosRankSum=0.325;SOR=0.883	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1099	20	0	1	0
chr5	141193268	141193268	C	T	exonic	PCDHB10	.	nonsynonymous SNV	PCDHB10:NM_018930:exon1:c.C716T:p.A239V,	.	.	429	1083	10	0	0	10	0.00459559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.042	B	0.033	B	.	.	0.816	N	1.305	L	4.02	T	-1.078	T	0.006	T	0.231	1.473	10.87	3.41	1.930	-0.016	9.038	0.040	.	0.0069	0.00239617	0.0068	0.0021	0.0051	0	0.0056	0.0102	0.0033	0.0012	0.0067075	1037	154602	rs61744157	0.0076	0.0076	0.0076	0.0075	0.0083	0.0075	0.0074	0.0081	0.0081	0.0014	0.0055	0.0218	2.519e-05	0.0062	0.0078	0.0083	0.0086	0.0015	0.0060	0.0060	0.0062	0.0058	0.0106	0.0057	0.0055	0.0093	0.0088	0.0025	0.0022	0.0106	0.0219	0	0.0041	0.0068	0.0074	0.0066	0.0010	0.189	0.21224	T	0.16	0.31427	T	0.042	0.21471	B	0.033	0.22329	B	.	.	.	.	0.816288	0.28939	N	1.67	0.42885	L	4.02	0.03178	T	-3.4	0.67014	D	0.38	0.42149	-1.0783	0.07681	T	0.006	0.02018	T	9	0.013487726	0.00286	T	.	.	.	0.040	0.10527	.	.	0.46682414995	0.46307	0.11449187099966941	0.11377	.	.	0.31497746706	0.12660	T	0.061787	0.31746	T	-0.591101	0.00165	T	-0.614888	0.11591	T	0.0129447598679045	0.00223	T	0.454955	0.12997	T	0.1391694	0.32158	0.23276384	0.48447	0.1391694	0.32157	0.23276384	0.48446	-7.172	0.55280	T	.	.	0.130	0.27851	B	.	.	2.320343	0.29709	18.21	0.97890665674136967	0.36669	0.21787	0.21524	N	AEFDBI	0.088909	0.18024	N	-0.422678109216179	0.24676	1.334094	-0.365722283746319	0.26026	1.435017	0.185472225477047	0.17931	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.620846	0.47308	0	.	.	3.41	3.41	0.38145	0.290000	0.18731	.	.	-1.063000	0.01613	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.8943:0.0:0.1057	9.038	0.35462	675	0.60470	Cadherin conserved site|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1637.98	153	chr5	141193268	.	C	T	1637.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.220e-01;DP=2053;ExcessHet=0.0000;FS=4.994;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.85;ReadPosRankSum=-4.480e-01;SOR=1.110	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1359	20	0	1	0
chr5	141194098	141194098	C	T	exonic	PCDHB10	.	nonsynonymous SNV	PCDHB10:NM_018930:exon1:c.C1546T:p.L516F,	.	.	199	1322	1	0	0	1	0.000378072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.97	D	.	.	1.000	N	3.68	H	4.51	T	-1.092	T	0.040	T	0.37	2.373	13.89	2.64	0.810	-0.115	9.311	0.063	0.00789078730606	.	0.000599042	0.0002	0	8.645e-05	0.0026	0	0	0	0.0001	0.0001811	28	154602	rs201065874	8.392e-05	8.345e-05	8.752e-05	8.028e-05	0.0027	7.176e-05	6.722e-05	0.0023	0.0021	0	0	0	0.0027	0	0	0	9.996e-05	0.0001	0.0001	0.0001	0.0001	0.0001	0.0029	6.512e-05	5.323e-05	0.0018	0.0014	0	0	6.542e-05	0	0.0029	0	0	0	0	0	0.001	0.78490	D	0.001	0.83351	D	0.996	0.68779	D	0.97	0.72226	D	.	.	.	.	1	0.08975	N	3.34	0.90961	M	4.51	0.02015	T	-3.85	0.72353	D	0.277	0.31365	-1.0919	0.05223	T	0.040	0.17404	T	9	0.022702157	0.00574	T	0.007891	0.20929	T	0.063	0.18251	0.668	0.80602	0.693435513012	0.69079	0.09954447345940201	0.09885	.	.	0.676252603531	0.63732	T	0.122921	0.44693	T	-0.39169	0.02623	T	-0.338776	0.40482	T	0.229810539716226	0.21942	T	0.978169	0.92312	D	0.32639906	0.55174	0.25505334	0.51181	0.32639906	0.55174	0.25505334	0.51180	-12.413	0.86805	D	.	.	0.362	0.57361	A	.	.	2.294648	0.29357	18.10	0.99634936630008708	0.76264	0.05281	0.11123	N	AEFI	0.074786	0.14999	N	0.15760717145327	0.49173	3.120645	-0.111374759958172	0.34932	2.014954	0.0031078731442692	0.09929	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	3.53	2.64	0.30504	-0.211000	0.09336	.	.	0.496000	0.22519	0.000000	0.06391	0.000000	0.08366	0.073000	0.16832	0.1609:0.6829:0.1562:0.0	9.311	0.37067	672	0.60758	Cadherin-like|Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2023.98	60	chr5	141194098	.	C	T	2023.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.58;DP=1275;ExcessHet=0.0000;FS=1.863;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=37.16;MQRankSum=-6.510e-01;QD=20.87;ReadPosRankSum=-2.181e+00;SOR=0.473	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1359	20	0	1	0
chr5	141201261	141201261	T	C	exonic	PCDHB11	.	nonsynonymous SNV	PCDHB11:NM_018931:exon1:c.T1487C:p.L496P,	.	.	308	1201	13	0	0	13	0.00538302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	0.29	N	4.64	T	-0.908	T	0.003	T	0.081	-2.193	0.005	-1.34	-0.521	-2.199	0.087	0.039	0.0209242374983	.	.	9.064e-05	9.63e-05	8.637e-05	0	0	0.0001	0	0	1.94e-05	3	154602	rs377311561	0.0001	0.0002	0.0001	0.0001	0.0004	0.0001	9.914e-05	0.0001	0.0001	2.994e-05	6.713e-05	0	2.519e-05	0	0.0004	0.0001	9.956e-05	1.16e-05	0.0002	0.0017	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	0.0003	0	0.0001	0	0	0	0.0035	0.0002	0	0	1.0	0.00964	T	0.869	0.18018	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999999	0.08975	N	-0.43	0.02865	N	4.64	0.01799	T	7.16	0.00003	N	0.045	0.01740	-0.9080	0.47097	T	0.003	0.00897	T	9	0.029480934	0.01074	T	0.020924	0.43616	T	0.039	0.10176	0.409	0.44395	0.0716867268079	0.06686	0.12223043496115316	0.12150	0.3628179241	0.37928	0.41848295927	0.27628	T	0.00543	0.04881	T	-0.575806	0.00204	T	-0.795582	0.02015	T	0.050601392995515	0.05605	T	0.0241976	0.00179	T	0.033085153	0.03459	0.054963145	0.09554	0.033085153	0.03458	0.054963145	0.09554	0.83	0.00155	T	.	.	0.039	0.00017	B	.;.	.;.	0.219071	0.06016	2.458	0.033756353656318606	0.00000	0.00365	0.01864	N	AEFDBI	0.047579	0.08025	N	-2.10250754910901	0.00127	0.005417057	-2.11845561951991	0.00170	0.007473022	0.00218433667622579	0.09217	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.3	-1.34	0.08665	-0.097000	0.11010	.	.	-3.265000	0.00102	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.2543:0.2255:0.193:0.3272	0.087	0.00033	664	0.61548	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	144.98	199	chr5	141201261	.	T	C	144.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.88;DP=1857;ExcessHet=0.0000;FS=30.650;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.41;MQRankSum=-1.405e+01;QD=0.69;ReadPosRankSum=-3.593e+00;SOR=3.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,105,1368	20	0	1	0
chr5	141201506	141201506	C	T	exonic	PCDHB11	.	nonsynonymous SNV	PCDHB11:NM_018931:exon1:c.C1732T:p.R578W,	.	.	30	1476	16	0	0	16	0.00539084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.946	P	0.55	P	.	.	1.000	N	3.345	M	0.24	T	-0.645	T	0.274	T	0.453	2.228	13.41	-5.02	-1.127	-3.331	8.312	0.219	.	.	0.00299521	0.0134	0.0039	0.0111	0.0037	0.0249	0.0190	0.0084	0.0038	0.0058149	899	154602	rs200306163	0.0092	0.0094	0.0093	0.0091	0.0107	0.0091	0.0090	0.0095	0.0094	0.0020	0.0061	0.0223	0.0026	0.0152	0.0107	0.0096	0.0100	0.0036	0.0080	0.0082	0.0077	0.0084	0.0122	0.0076	0.0075	0.0107	0.0102	0.0026	0.0077	0.0122	0.0236	0.0031	0.0175	0.0068	0.0089	0.0071	0.0027	0.003	0.68238	D	0.004	0.79402	D	0.946	0.53363	P	0.55	0.49239	P	.	.	.	.	1	0.08975	N	3.355	0.91145	M	0.24	0.59583	T	-7.4	0.94758	D	0.412	0.47395	-0.6447	0.62944	T	0.274	0.64608	T	9	0.01023823	0.00229	T	.	.	.	0.219	0.51417	.	.	0.595302103986	0.59208	0.42296477812811595	0.42213	0.35052041495	0.36897	0.722939729691	0.70474	T	0.210812	0.57140	T	-0.396861	0.02428	T	-0.332452	0.41195	T	0.152785068528838	0.17323	T	0.820318	0.47908	T	0.49512807	0.66808	0.48506778	0.70194	0.49512807	0.66809	0.48506778	0.70194	-9.073	0.71535	D	.	.	0.160	0.42067	B	.;.	.;.	1.527005	0.19596	14.34	0.9924836739562376	0.56792	0.01738	0.05488	N	AEFI	0.152649	0.27737	N	-0.509585979626402	0.21768	1.157714	-0.832563155671573	0.13707	0.7125542	0.0336014086913275	0.14114	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.51	-5.02	0.02759	-4.181000	0.00317	.	.	0.299000	0.18918	0.000000	0.06391	0.000000	0.08366	0.112000	0.18829	0.7392:0.1534:0.0:0.1074	8.312	0.31238	662	0.61715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	541.98	43	chr5	141201506	.	C	T	541.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=6.82;DP=2295;ExcessHet=0.0000;FS=2.098;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.79;MQRankSum=-1.926e+00;QD=6.16;ReadPosRankSum=1.19;SOR=0.442	GT:AD:DP:GQ:PL	0/0:131,0:131:99:0,120,1800	20	0	1	0
chr5	141201667	141201667	C	G	exonic	PCDHB11	.	nonsynonymous SNV	PCDHB11:NM_018931:exon1:c.C1893G:p.S631R,	.	.	67	1454	1	0	0	1	0.000343761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.793	P	0.427	B	.	.	1.000	N	1.55	L	0.71	T	-1.016	T	0.120	T	0.265	2.788	15.28	1.61	1.481	-3.816	6.885	0.074	.	.	0.00279553	0.0006	0	0	0	0	2.053e-05	0	0.0034	0.0005379	14	26028	rs552981865	0.0001	0.0001	7.67e-05	0.0002	0.0021	0.0001	0.0001	0.0018	0.0017	2.996e-05	0	0	2.521e-05	0	0.0002	4.499e-06	0.0001	0.0021	0.0001	0.0001	0.0001	0.0001	0.0037	8.161e-05	6.718e-05	0.0024	0.0020	0	0	0	0	0.0002	0	0	0	0	0.0037	0.006	0.61437	D	0.112	0.37037	T	0.793	0.44725	P	0.427	0.45317	B	.	.	.	.	0.999999	0.08975	N	0.865	0.21413	L	0.71	0.51228	T	-4.62	0.79143	D	0.092	0.14338	-1.0161	0.24980	T	0.120	0.41865	T	9	0.010654479	0.00236	T	.	.	.	0.074	0.21613	0.57	0.69299	0.564354818415	0.56098	0.4257002839559764	0.42487	0.84291978539	0.68154	0.76929807663	0.77320	T	0.078445	0.35893	T	-0.528119	0.00394	T	-0.53631	0.18660	T	0.173299432906064	0.18802	T	0.691431	0.30091	T	0.43321013	0.62962	0.253995	0.51057	0.43321013	0.62963	0.253995	0.51056	-10.49	0.79416	D	.	.	0.591	0.68507	P	.;.	.;.	1.675101	0.21352	15.16	0.99562970733661016	0.71892	0.00456	0.02204	N	AEFI	0.033966	0.04125	N	-0.291403255609186	0.29479	1.635145	-0.378423669963681	0.25642	1.411362	0.00197084583226668	0.09045	0.553676	0.25195	0	0.588015	0.36545	0	0.667716	0.60424	0	0.567892	0.33627	0	.	.	2.64	1.61	0.22752	-3.902000	0.00381	.	.	0.299000	0.18918	0.000000	0.06391	0.000000	0.08366	0.518000	0.29429	0.163:0.539:0.298:0.0	6.885	0.23378	661	0.61838	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2337.98	43	chr5	141201667	.	C	G	2337.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=1568;ExcessHet=0.0000;FS=4.068;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=40.90;MQRankSum=-7.450e-01;QD=16.94;ReadPosRankSum=1.03;SOR=0.421	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,105,1575	20	0	1	0
chr5	141201807	141201807	C	A	exonic	PCDHB11	.	nonsynonymous SNV	PCDHB11:NM_018931:exon1:c.C2033A:p.P678Q,	.	.	168	1321	32	1	0	34	0.0127055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.013	B	0.02	B	.	.	1.000	N	2.06	M	0.8	T	-0.928	T	0.088	T	0.145	0.458	6.488	-2.14	-0.248	-1.842	0.535	0.056	.	0.0027	0.00399361	0.0039	0.0004	0.0004	0.0001	0.0027	0.0040	0.0067	0.0097	0.0035381	547	154602	rs141800205	0.0040	0.0039	0.0036	0.0043	0.0102	0.0039	0.0038	0.0096	0.0094	0.0003	0.0016	0.0069	0	0.0020	0.0085	0.0038	0.0036	0.0102	0.0033	0.0033	0.0031	0.0036	0.0087	0.0031	0.0030	0.0066	0.0059	0.0005	0	0.0039	0.0078	0	0.0024	0.0102	0.0047	0.0014	0.0087	0.201	0.20306	T	0.207	0.35840	T	0.013	0.16609	B	0.02	0.19048	B	.	.	.	.	1	0.08975	N	1.02	0.25474	L	0.8	0.48769	T	-3.23	0.65056	D	0.087	0.11769	-0.9282	0.44400	T	0.088	0.34078	T	9	0.0062874258	0.00142	T	.	.	.	0.056	0.15993	.	.	0.424430313326	0.42057	0.21207624426873645	0.21123	0.218745738451	0.24414	0.432624101639	0.29567	T	0.027678	0.20215	T	-0.618637	0.00112	T	-0.652011	0.08814	T	0.00542685166688873	0.00059	T	0.467153	0.14032	T	0.035338838	0.04141	0.072137386	0.15528	0.035338838	0.04141	0.072137386	0.15528	-9.301	0.70254	D	.	.	0.078	0.08368	B	.;.	.;.	1.146609	0.15341	11.78	0.54837505654297913	0.05218	0.01440	0.04836	N	AEFDI	0.031168	0.03277	N	-1.00260200278716	0.08550	0.401287	-1.15715369112361	0.06640	0.3203102	0.00276586595352238	0.09691	0.490419	0.18000	1	0.573888	0.26702	0	0.667716	0.60424	0	0.613276	0.41899	0	.	.	2.77	-2.14	0.06725	-1.779000	0.01874	.	.	0.299000	0.18918	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.4176:0.2069:0.1464:0.229	0.535	0.00593	662	0.61715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3638.11	43	chr5	141201807	.	C	A	3638.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.91;DP=1498;ExcessHet=0.1072;FS=3.594;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.71;MQRankSum=1.06;QD=14.97;ReadPosRankSum=1.09;SOR=0.917	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	19	0	2	0
chr5	141210253	141210253	C	T	exonic	PCDHB12	.	nonsynonymous SNV	PCDHB12:NM_018932:exon1:c.C1346T:p.P449L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	1.000	D	4.5	H	-1.9	D	1.033	D	0.861	D	0.796	2.917	15.72	3.83	1.859	7.749	15.759	0.764	0.408440668083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	4.69	0.99455	H	-1.9	0.84628	D	-9.92	0.98753	D	0.949	0.95725	1.033	0.97776	D	0.861	0.95376	D	9	0.98770356	0.99150	D	0.408441	0.93547	D	0.764	0.92004	0.805	0.92301	0.960281885884	0.95986	0.5938261753378234	0.59312	0.770983997897	0.64758	0.674611926079	0.63497	T	0.275009	0.64753	T	0.315559	0.84156	D	0.215502	0.83949	D	0.999690413475037	0.98532	D	0.993034	0.97856	D	0.6331495	0.74466	0.5496676	0.73963	0.6331495	0.74467	0.5496676	0.73964	-10.359	0.79262	D	.	.	0.686	0.76897	P	.;.	.;.	3.119746	0.42115	21.5	0.99827250875831097	0.90939	0.99521	0.97020	D	AEFBI	0.858497	0.77602	D	0.697778513042696	0.79487	7.088	0.455232858700013	0.65055	4.775389	0.999999452218939	0.74766	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	3.83	3.83	0.43287	7.883000	0.85762	.	.	0.545000	0.25583	1.000000	0.71638	0.998000	0.33993	0.004000	0.06068	0.0:1.0:0.0:0.0	15.759	0.77832	692	0.58729	.;Cadherin-like|Cadherin conserved site|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4904.98	61	chr5	141210253	.	C	T	4904.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.326e+00;DP=1400;ExcessHet=0.0000;FS=2.278;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.89;MQRankSum=0.718;QD=13.97;ReadPosRankSum=0.748;SOR=0.584	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1230	20	0	1	0
chr5	141210609	141210609	G	A	exonic	PCDHB12	.	nonsynonymous SNV	PCDHB12:NM_018932:exon1:c.G1702A:p.G568S,	.	.	19	1493	10	0	0	10	0.00333778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.127	B	0.033	B	.	.	0.970	N	0.81	L	0.16	T	-1.009	T	0.090	T	0.106	2.470	14.22	3.4	1.626	0.766	9.855	0.069	.	0.0057	0.00259585	0.0065	0.0020	0.0052	0	0.0057	0.0097	0.0047	0.0013	0.0032657	85	26028	rs151253443	0.0072	0.0072	0.0072	0.0071	0.0080	0.0071	0.0070	0.0079	0.0078	0.0012	0.0056	0.0125	2.52e-05	0.0062	0.0063	0.0080	0.0077	0.0014	0.0056	0.0056	0.0058	0.0055	0.0106	0.0053	0.0052	0.0093	0.0087	0.0024	0.0022	0.0106	0.0124	0	0.0041	0.0068	0.0071	0.0071	0.0010	0.201	0.20306	T	0.178	0.29639	T	0.127	0.26966	B	0.033	0.22329	B	.	.	.	.	0.970448	0.25704	N	0.845	0.21182	L	0.16	0.60610	T	-2.59	0.55821	D	0.069	0.04188	-1.0088	0.27292	T	0.090	0.34436	T	9	0.006162137	0.00139	T	.	.	.	0.069	0.20116	.	.	0.716020962526	0.71352	0.158494333480968	0.15770	0.214408577783	0.23972	0.564715921879	0.47932	T	0.017055	0.13979	T	-0.545915	0.00309	T	-0.550689	0.17261	T	0.0182747208517096	0.00546	T	0.735926	0.35246	T	0.08413262	0.19459	0.12923677	0.31079	0.08413262	0.19458	0.12923677	0.31078	-7.978	0.60920	D	.	.	0.074	0.08129	B	.;.	.;.	2.430218	0.31260	18.69	0.98867701034836419	0.47580	0.17993	0.20074	N	AEFBI	0.260657	0.37876	N	-0.546208554165606	0.20602	1.087299	-0.504189946335591	0.22038	1.195106	0.882116910353759	0.25646	0.553676	0.25195	0	0.588015	0.36545	0	0.603688	0.36954	0	0.567892	0.33627	0	.	.	3.4	3.4	0.38031	0.693000	0.25176	.	.	0.487000	0.22268	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.1068:0.0:0.8932:0.0	9.855	0.40250	692	0.58729	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1574.98	61	chr5	141210609	.	G	A	1574.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.32;DP=1249;ExcessHet=0.0000;FS=0.727;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=48.53;MQRankSum=-2.670e-01;QD=14.86;ReadPosRankSum=-7.850e-01;SOR=0.696	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1230	20	0	1	0
chr5	141210717	141210717	T	A	exonic	PCDHB12	.	nonsynonymous SNV	PCDHB12:NM_018932:exon1:c.T1810A:p.Y604N,	.	.	21	1491	10	0	0	10	0.00334225	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.946	P	0.949	D	.	.	0.547	N	4.745	H	-0.02	T	0.362	D	0.527	D	0.529	3.949	20.2	3.25	1.253	6.142	11.580	0.313	.	0.0049	0.00299521	0.0069	0.0023	0.0055	0.0007	0.0058	0.0104	0.0036	0.0011	0.0008085	125	154602	rs17844603	0.0076	0.0076	0.0077	0.0076	0.0088	0.0075	0.0075	0.0081	0.0081	0.0014	0.0057	0.0216	0.0004	0.0063	0.0088	0.0083	0.0086	0.0018	0.0060	0.0060	0.0062	0.0058	0.0107	0.0057	0.0056	0.0094	0.0089	0.0024	0.0022	0.0107	0.0219	0.0010	0.0041	0.0068	0.0074	0.0071	0.0012	0.0	0.91255	D	0.0	0.92824	D	0.946	0.53363	P	0.949	0.68658	D	.	.	.	.	0.547238	0.31364	N	4.565	0.99167	H	-0.02	0.62918	T	-7.42	0.94814	D	0.613	0.64052	0.362	0.88516	D	0.527	0.82428	D	9	0.009377807	0.00212	T	.	.	.	0.313	0.63482	.	.	0.832710290672	0.83112	0.5683152926814415	0.56759	0.948421763614	0.72512	0.601305186749	0.53088	T	0.328904	0.69926	T	-0.265097	0.12308	T	-0.147172	0.59494	T	0.0710917413189032	0.08803	T	0.986401	0.95374	D	0.7740202	0.82290	0.75926334	0.85775	0.7740202	0.82291	0.75926334	0.85776	-14.794	0.96397	D	.	.	0.957	0.87648	P	.;.	.;.	3.260050	0.44579	22.0	0.98886495161570154	0.47930	0.97402	0.74521	D	AEFBI	0.651726	0.62537	D	0.733675385821981	0.81840	7.617346	0.530443262173326	0.70049	5.448296	0.997050152681219	0.35233	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	3.25	3.25	0.36363	6.090000	0.71042	.	.	0.480000	0.22105	0.929000	0.32243	0.952000	0.29052	0.866000	0.41154	0.0:0.0:0.0:1.0	11.580	0.50141	692	0.58729	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3010.11	61	chr5	141210717	.	T	A	3010.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.78;DP=1239;ExcessHet=0.1072;FS=0.501;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=39.94;MQRankSum=-4.670e-01;QD=13.62;ReadPosRankSum=1.39;SOR=0.623	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1230	19	0	2	0
chr5	141211069	141211069	C	G	exonic	PCDHB12	.	nonsynonymous SNV	PCDHB12:NM_018932:exon1:c.C2162G:p.P721R,	.	.	372	1101	46	3	0	52	0.0230701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.061	B	0.034	B	.	.	1.000	N	1.175	L	0.85	T	-1.033	T	0.067	T	0.119	0.832	8.354	1.7	0.128	0.784	7.747	0.029	.	0.0038	0.0071885	0.0088	0.0005	0.0016	0.0004	0.0044	0.0057	0.0122	0.0369	0.0075872	1173	154602	rs150562956	0.0073	0.0073	0.0061	0.0084	0.0377	0.0071	0.0071	0.0366	0.0361	0.0009	0.0020	0.0033	0.0003	0.0040	0.0149	0.0058	0.0070	0.0377	0.0054	0.0054	0.0048	0.0060	0.0367	0.0051	0.0049	0.0323	0.0306	0.0009	0	0.0040	0.0032	0.0004	0.0047	0.0068	0.0069	0.0047	0.0367	0.004	0.65419	D	0.387	0.16280	T	0.061	0.23190	B	0.034	0.22546	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	0.85	0.47130	T	-0.21	0.10308	N	0.05	0.02179	-1.0327	0.19586	T	0.067	0.27640	T	9	0.0026969314	0.00042	T	.	.	.	0.029	0.06676	.	.	0.456275507713	0.45249	0.09963175427583046	0.09894	0.22973312364	0.25525	0.573936104774	0.49234	T	0.001056	0.00580	T	-0.60379	0.00138	T	-0.613619	0.11692	T	0.00680642899000506	0.00077	T	0.250275	0.12411	T	0.07188258	0.15949	0.06356104	0.12609	0.07188258	0.15948	0.06356104	0.12609	-4.549	0.32559	T	.	.	0.091	0.13032	B	.;.	.;.	1.141436	0.15289	11.74	0.86655142440817323	0.16682	0.05152	0.10965	N	AEFDBI	0.065858	0.12867	N	-0.900844477447111	0.10823	0.5191038	-0.962757534171288	0.10628	0.5365001	0.0019811220922222	0.09061	0.533608	0.22052	0	0.573888	0.26702	0	0.685742	0.62368	0	0.613276	0.41899	0	.	.	3.67	1.7	0.23359	0.519000	0.22570	.	.	0.328000	0.19510	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.2725:0.3123:0.4152:0.0	7.747	0.28043	692	0.58729	.;Cadherin, cytoplasmic C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1903.98	61	chr5	141211069	.	C	G	1903.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.840e-01;DP=1250;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.46;ReadPosRankSum=-9.880e-01;SOR=0.658	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1230	20	0	1	0
chr5	141216121	141216121	C	-	exonic	PCDHB13	.	frameshift deletion	PCDHB13:NM_018933:exon1:c.1998delC:p.S667Pfs*73,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.572e-05	0	8.749e-05	0.0007	0	3.199e-05	0	0.0001	7.76e-05	12	154602	rs782743737	8.716e-05	8.687e-05	7.241e-05	0.0001	0.0004	7.445e-05	6.992e-05	0.0002	0.0002	0	4.474e-05	0	0.0004	0	0.0002	7.286e-05	6.643e-05	0.0003	8.536e-05	8.53e-05	6.424e-05	0.0001	0.0010	4.954e-05	3.96e-05	0.0004	0.0002	0	0	0	0	0.0010	0	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2529.94	92	chr5	141216120	.	TC	T	2529.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.17;DP=1791;ExcessHet=0.0000;FS=0.565;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.10;MQRankSum=-1.270e+00;QD=14.62;ReadPosRankSum=0.589;SOR=0.617	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1317	20	0	1	0
chr5	141224029	141224029	A	G	exonic	PCDHB14	.	nonsynonymous SNV	PCDHB14:NM_018934:exon1:c.A524G:p.N175S,	.	.	431	1071	20	0	0	20	0.00925069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.966	D	0.573	P	.	.	0.959	N	2.365	M	0.73	T	-0.758	T	0.297	T	0.031	2.459	14.18	1.2	0.033	2.020	5.639	0.232	.	7.7e-05	0.00399361	0.0034	0.0002	8.64e-05	0.0001	0	0.0003	0.0033	0.0237	0.0029883	462	154602	rs200378467	0.0015	0.0015	0.0009	0.0022	0.0221	0.0015	0.0015	0.0213	0.0210	2.991e-05	0.0002	0.0010	0.0002	0	0.0042	0.0001	0.0020	0.0221	0.0008	0.0008	0.0005	0.0011	0.0190	0.0007	0.0006	0.0159	0.0147	7.217e-05	0	0.0007	0.0006	0	0	0.0034	0.0002	0.0019	0.0190	0.049	0.39820	D	0.064	0.44905	T	0.966	0.56202	D	0.573	0.49966	P	.	.	.	.	0.95908	0.26200	N	1.86	0.49225	L	0.73	0.50721	T	-4.55	0.78553	D	0.171	0.37197	-0.7585	0.57487	T	0.297	0.66830	T	9	0.0061300397	0.00138	T	.	.	.	0.232	0.53354	.	.	0.741568591866	0.73925	0.04510056476940279	0.04454	0.275151034729	0.29997	0.2640440166	0.05381	T	0.043956	0.26664	T	-0.616578	0.00115	T	-0.640862	0.09606	T	0.0627792979981834	0.07599	T	0.856914	0.54589	D	0.13261251	0.30873	0.1652232	0.38233	0.13261251	0.30873	0.1652232	0.38233	-5.898	0.49603	T	.	.	0.072	0.07937	B	.;.	.;.	2.168090	0.27628	17.53	0.98286689661757454	0.39907	0.94622	0.61769	D	AEFBI	0.343104	0.43903	N	0.19959961650068	0.51179	3.301366	0.128840942202755	0.46030	2.855851	0.341564612655079	0.19589	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	5.02	1.2	0.20181	2.515000	0.45172	.	.	0.756000	0.94297	0.943000	0.32764	0.000000	0.08366	0.993000	0.69303	0.6983:0.1444:0.1573:0.0	5.639	0.16829	688	0.59122	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2627.98	175	chr5	141224029	.	A	G	2627.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.900e-01;DP=923;ExcessHet=0.0000;FS=0.562;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.02;ReadPosRankSum=0.242;SOR=0.772	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1226	20	0	1	0
chr5	141225285	141225285	G	A	exonic	PCDHB14	.	nonsynonymous SNV	PCDHB14:NM_018934:exon1:c.G1780A:p.G594S,	.	.	31	1345	146	0	0	146	0.051481	.	.	2333946	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	0.126	B	0.037	B	.	.	1.000	N	0.48	N	0.82	T	-1.040	T	0.069	T	0.196	2.281	13.59	1.07	-0.022	1.960	6.374	0.070	0.00812370171638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0011	0.0002	0.0004	0.0010	0.0003	0.0003	0.0003	0.0003	6.028e-05	4.557e-05	0.0001	0.0003	0.0006	0.0010	0.0003	0.0003	0.0002	2.633e-05	0.0001	3.859e-05	1.348e-05	4.421e-05	8.15e-06	5.15e-06	1.174e-05	6.25e-06	2.413e-05	0	0	0	0	0	0	4.421e-05	0	0	0.129	0.26852	T	0.231	0.37310	T	0.126	0.26920	B	0.037	0.23121	B	.	.	.	.	1	0.08975	N	0.515	0.13537	N	0.82	0.48142	T	-3.18	0.64478	D	0.034	0.13769	-1.0398	0.17374	T	0.069	0.28147	T	9	0.19781601	0.35727	T	0.008124	0.21521	T	0.070	0.20419	.	.	0.565131857978	0.56177	0.36686842792872654	0.36600	0.245885684845	0.27115	0.580103754997	0.50101	T	0.009182	0.08373	T	-0.211783	0.19127	T	-0.541988	0.18101	T	0.156878933310509	0.17638	T	0.690631	0.30012	T	0.08944512	0.20898	0.1374503	0.32854	0.08944512	0.20898	0.1374503	0.32853	-9.129	0.68523	D	.	.	0.094	0.14523	B	.;.	.;.	2.012059	0.25564	16.81	0.98644404939967945	0.44096	0.16045	0.19205	N	AEFI	0.149542	0.27365	N	-0.635078871570523	0.17897	0.9248997	-0.577513812790395	0.20079	1.080253	5.80256062791124E-5	0.04171	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	4.03	1.07	0.19399	2.189000	0.42253	.	.	0.565000	0.28586	0.032000	0.20554	0.000000	0.08366	0.950000	0.49671	0.183:0.1562:0.6608:0.0	6.374	0.20703	688	0.59122	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	72.04	69	chr5	141225285	.	G	A	72.04	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.240e-01;DP=1189;ExcessHet=0.0000;FS=3.040;InbreedingCoeff=-0.0284;MLEAC=1;MLEAF=0.024;MQ=36.28;MQRankSum=1.13;QD=0.75;ReadPosRankSum=-4.570e-01;SOR=1.095	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1226	20	0	1	0
chr5	141246069	141246069	G	A	exonic	PCDHB15	.	nonsynonymous SNV	PCDHB15:NM_018935:exon1:c.G491A:p.S164N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.001	B	0.013	B	.	.	1.000	N	1.515	L	0.71	T	-1.012	T	0.084	T	0.006	-0.932	0.375	-0.902	0.002	-3.643	4.090	0.027	0.00983905232666	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1357473785	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	2.519e-05	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	0.08736	T	0.498	0.11263	T	0.001	0.07471	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	1.375	0.34280	L	0.71	0.51228	T	-1.07	0.27876	N	0.011	0.00110	-1.0116	0.26416	T	0.084	0.32814	T	9	0.08736813	0.14941	T	0.009839	0.25653	T	0.027	0.05988	0.208	0.12497	0.399889258716	0.39604	0.09258657567060875	0.09190	0.394183223072	0.40577	0.290404438972	0.08981	T	0.001763	0.01186	T	-0.358432	0.04219	T	-0.752639	0.03384	T	0.0216828451181201	0.00873	T	0.285071	0.05059	T	0.050651073	0.09184	0.065388575	0.13246	0.050651073	0.09184	0.065388575	0.13245	-4.8	0.34591	T	.	.	0.065	0.01859	B	.	.	0.642317	0.10110	6.854	0.71859045199274363	0.09773	0.00664	0.02871	N	AEFDBI	0.052977	0.09506	N	-1.09358799086673	0.06760	0.312148	-1.08317399645015	0.08032	0.3931512	0.783074883129098	0.23880	0.608746	0.35421	0	0.573888	0.26702	0	0.731467	0.93227	0	0.620846	0.47308	0	.	.	4.92	-0.902	0.10002	-1.793000	0.01851	.	.	-0.235000	0.07621	0.000000	0.06391	0.000000	0.08366	0.677000	0.33454	0.3525:0.0:0.2494:0.3981	4.090	0.09438	683	0.59664	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2426.98	125	chr5	141246069	.	G	A	2426.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.190e+00;DP=1135;ExcessHet=0.0000;FS=2.742;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.71;ReadPosRankSum=7.000e-03;SOR=0.624	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1276	20	0	1	0
chr5	141246329	141246329	G	A	exonic	PCDHB15	.	nonsynonymous SNV	PCDHB15:NM_018935:exon1:c.G751A:p.V251I,	.	.	427	1087	8	0	0	8	0.00366636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.092	B	0.162	B	.	.	1.000	N	0.575	N	0.6	T	-0.982	T	0.090	T	0.039	-1.142	0.109	1.87	0.111	-0.810	4.904	0.046	.	.	0.0113818	0.0071	0.0003	0.0003	0.0002	0	0.0001	0.0067	0.0505	0.0061319	948	154602	rs201493933	0.0033	0.0033	0.0018	0.0048	0.0525	0.0032	0.0032	0.0512	0.0507	5.974e-05	4.472e-05	0	2.519e-05	1.872e-05	0.0014	8.543e-05	0.0032	0.0525	0.0018	0.0018	0.0010	0.0026	0.0528	0.0016	0.0015	0.0475	0.0454	7.217e-05	0	0.0002	0	0	0	0.0068	2.94e-05	0.0009	0.0528	0.66	0.04699	T	0.457	0.12704	T	0.092	0.25296	B	0.162	0.34839	B	.	.	.	.	1	0.08975	N	0.675	0.16386	N	0.6	0.53731	T	-0.4	0.13805	N	0.066	0.03841	-0.9822	0.34491	T	0.090	0.34491	T	9	0.0020648837	0.00029	T	.	.	.	0.046	0.12618	.	.	0.318252033908	0.31440	0.06980877514002182	0.06918	0.345746040021	0.36478	0.304533541203	0.11081	T	0.002681	0.02075	T	-0.676693	0.00050	T	-0.706814	0.05461	T	0.00608197774286687	0.00067	T	0.790821	0.43180	T	0.021916268	0.00821	0.033994257	0.02388	0.021916268	0.00821	0.033994257	0.02388	-3.611	0.18016	T	.	.	0.072	0.13644	B	.;.	.;.	1.051115	0.14322	10.90	0.63020088864006962	0.07114	0.09355	0.15128	N	AEFBI	0.095803	0.19350	N	-0.870866606196103	0.11540	0.5574341	-0.841176895145729	0.13499	0.7006277	0.295757623239657	0.19136	0.608746	0.35421	0	0.573888	0.26702	0	0.731467	0.93227	0	0.620846	0.47308	0	.	.	5.13	1.87	0.24559	-0.446000	0.06910	.	.	0.526000	0.24426	0.000000	0.06391	0.000000	0.08366	0.570000	0.30651	0.2845:0.278:0.4375:0.0	4.904	0.13140	689	0.59000	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2276.98	125	chr5	141246329	.	G	A	2276.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.470e-01;DP=1131;ExcessHet=0.0000;FS=0.586;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.50;ReadPosRankSum=0.166;SOR=0.756	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1276	20	0	1	0
chr5	141303079	141303079	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787C:p.V263L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.001	B	0.941	N	1.000	N	-1.57	N	-1.1	T	-1.019	T	0.099	T	0.051	-1.282	0.042	-1.96	-0.413	0.139	0.421	0.146	0.00909780768334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.611e-06	0.0012	9.648e-06	5.557e-06	9.117e-06	4.08e-06	2.99e-06	4.61e-06	3.36e-06	0	0	3.841e-05	0	0	0	9.117e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.865	0.02639	T	0.669	0.06325	T	0.0	0.02946	B	0.001	0.04355	B	0.940851	0.07593	N	1.028430	0.99999	0.08975	N	-1.395	0.00601	N	-1.1	0.77336	T	0.91	0.01595	N	0.015	0.00181	-1.0189	0.24074	T	0.099	0.36957	T	10	0.04655108	0.03861	T	0.009098	0.23941	T	0.146	0.38789	0.353	0.35246	0.307966526162	0.30417	0.15140888837097558	0.15062	0.179086514007	0.20148	0.295074403286	0.09668	T	0.158211	0.50113	T	-0.262078	0.12658	T	-0.614233	0.11644	T	0.0472256252312583	0.05005	T	0.090191	0.00668	T	0.05519885	0.10696	0.03909303	0.03923	0.05519885	0.10696	0.03909303	0.03923	-0.632	0.00670	T	.	.	0.081	0.08129	B	.	.	0.911050	0.12853	9.367	0.29972271365944797	0.01616	0.36561	0.25561	N	AEFDBI	0.079883	0.16143	N	-1.27563492994376	0.03971	0.1783734	-1.17336112797431	0.06358	0.3057852	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4688	11030.59	183	chr5	141303079	.	C	G,T	11030.59	.	AC=13,2;AF=0.406,0.063;AN=32;BaseQRankSum=-5.525e+00;DP=4228;ExcessHet=17.4423;FS=211.915;InbreedingCoeff=-0.7194;MLEAC=15,2;MLEAF=0.469,0.063;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=0.978;SOR=13.406	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:168,16,19:203:41:.:.:405,41,6819,0,5670,5758	1	0	13	5
chr5	141303079	141303079	C	T	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787A:p.V263I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.021	B	0.039	B	0.941	N	1.000	N	0.65	N	-1.23	T	-0.928	T	0.215	T	0.091	-0.151	3.259	-1.96	-0.413	0.139	0.421	0.147	0.0182275345159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.07944	T	0.363	0.16815	T	0.021	0.18474	B	0.039	0.23607	B	0.940851	0.07593	N	1.028430	0.999997	0.08975	N	0.5	0.13406	N	-1.23	0.78860	T	0.06	0.06253	N	0.045	0.01740	-0.9283	0.44386	T	0.215	0.57626	T	10	0.071314245	0.10496	T	0.018228	0.40224	T	0.147	0.38986	0.339	0.32979	0.359557344763	0.35564	0.08275398820863436	0.08210	0.147289003395	0.16616	0.28638151288	0.08398	T	0.161028	0.50511	T	-0.18769	0.22597	T	-0.50738	0.21586	T	0.0446509129349204	0.04539	T	0.0730927	0.00533	T	0.038403146	0.05108	0.028814076	0.01154	0.038403146	0.05108	0.028814076	0.01154	-4.133	0.25775	T	.	.	0.080	0.07745	B	.	.	1.381003	0.17922	13.45	0.53492033685486196	0.04950	0.27226	0.23218	N	AEFDBI	0.033857	0.04094	N	-0.96113578187942	0.09444	0.4469869	-0.958533915171557	0.10726	0.542049	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	11030.59	183	chr5	141303079	.	C	G,T	11030.59	.	AC=13,2;AF=0.406,0.063;AN=32;BaseQRankSum=-5.525e+00;DP=4228;ExcessHet=17.4423;FS=211.915;InbreedingCoeff=-0.7194;MLEAC=15,2;MLEAF=0.469,0.063;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=0.978;SOR=13.406	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:168,16,19:203:41:.:.:405,41,6819,0,5670,5758	1	0	13	5
chr5	141303081	141303081	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T785C:p.I262T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.031	B	0.072	B	0.002	N	0.665	D	2.66	M	-1.43	T	-0.297	T	0.436	T	0.223	1.515	11.02	1.42	0.324	2.506	6.656	0.304	0.0473896448522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.057e-05	0.0052	9.083e-05	7.061e-05	9.408e-05	6.666e-05	6.17e-05	7.637e-05	7.056e-05	7.663e-05	2.352e-05	9.167e-05	0	0	0	9.408e-05	0.0001	3.753e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.012	0.63918	D	0.031	0.20130	B	0.072	0.28043	B	0.002026	0.37411	N	0.228449	0.664955	0.33087	D	2.495	0.72670	M	-1.43	0.80730	T	-3.37	0.66665	D	0.15	0.15328	-0.2969	0.75071	T	0.436	0.77580	T	10	0.32646608	0.49943	T	0.04739	0.62897	D	0.304	0.62510	0.714	0.84962	0.796736975761	0.79484	0.3777484127299112	0.37689	0.256540601776	0.28227	0.559880197048	0.47250	T	0.479583	0.80893	T	-0.0449841	0.45207	T	-0.302393	0.44473	T	0.91609662771225	0.57338	D	0.873613	0.58243	D	0.3416271	0.56408	0.3380717	0.59590	0.3416271	0.56408	0.3380717	0.59589	-5.782	0.44417	T	.	.	0.170	0.37388	B	.	.	3.362138	0.46425	22.3	0.97252123840185223	0.33047	0.90378	0.51506	D	AEFDBI	0.134760	0.25488	N	-0.253584900046592	0.30961	1.73137	-0.254588989580657	0.29613	1.660522	0.0034441891907943	0.10119	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	1.42	0.21524	2.856000	0.48040	.	.	0.751000	0.87719	0.966000	0.33990	0.265000	0.24010	0.967000	0.53440	0.789:0.0:0.211:0.0	6.656	0.22177	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	15997.73	187	chr5	141303081	.	A	G	15997.73	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-3.670e+00;DP=4433;ExcessHet=43.6797;FS=223.742;InbreedingCoeff=-0.9170;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=3.87;ReadPosRankSum=0.595;SOR=14.013	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:168,52:220:99:.:.:719,0,5735	1	0	20	0
chr5	141303084	141303084	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G782C:p.G261A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	U	1.000	D	4.43	H	-4.47	D	1.048	D	0.970	D	0.855	3.907	19.87	3.79	2.429	6.932	13.958	0.880	0.145261718238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.3e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.008	0.67890	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	U	0.000000	1	0.81001	D	4.13	0.97473	H	-4.47	0.97583	D	-5.86	0.88561	D	0.888	0.88687	1.048	0.98081	D	0.970	0.99037	D	10	0.9643136	0.95886	D	0.145262	0.82746	D	0.880	0.96465	0.775	0.90080	0.989331672716	0.98921	0.7175579973313387	0.71698	0.765059685441	0.64454	0.534335315228	0.43644	T	0.623532	0.88235	D	0.483847	0.93828	D	0.457236	0.93750	D	0.999319076538086	0.96929	D	0.951205	0.81406	D	0.959312	0.97210	0.94452107	0.98060	0.959312	0.97210	0.94452107	0.98060	-13.57	0.91575	D	.	.	0.810	0.77750	P	.	.	4.845771	0.79160	27.0	0.99804682888810325	0.88906	0.99259	0.93576	D	AEFDBI	0.794403	0.72212	D	0.962105787118078	0.94454	12.77026	0.798465946664251	0.89688	10.07864	0.999919411962109	0.45857	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	3.79	0.42757	5.501000	0.66665	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:1.0:0.0:0.0	13.958	0.63673	508	0.75398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	240.98	150	chr5	141303084	.	C	G	240.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.198e+00;DP=2931;ExcessHet=0.0000;FS=133.030;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.32;ReadPosRankSum=2.22;SOR=6.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485	20	0	1	0
chr5	141303085	141303085	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G781C:p.G261R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	U	1.000	D	4.085	H	-4.47	D	1.064	D	0.966	D	0.924	3.966	20.3	3.79	2.429	6.932	13.958	0.945	0.119171460993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	U	0.000000	1	0.81001	D	4.05	0.97045	H	-4.47	0.97583	D	-7.81	0.95950	D	0.92	0.92317	1.064	0.98437	D	0.966	0.98903	D	10	0.9785469	0.97736	D	0.119171	0.79941	D	0.945	0.98886	0.826	0.93721	0.991982707548	0.99189	0.6984871802548264	0.69789	0.807526858809	0.66562	0.601562201977	0.53125	T	0.596879	0.87022	D	0.541534	0.95488	D	0.540099	0.95420	D	0.999754726886749	0.98831	D	0.959904	0.84889	D	0.9499764	0.96263	0.94546807	0.98120	0.9499764	0.96263	0.94546807	0.98120	-7.658	0.58715	D	.	.	0.854	0.79970	P	.	.	4.753978	0.76787	26.6	0.99923634956981966	0.98917	0.99259	0.93576	D	AEFDBI	0.837950	0.75552	D	0.9285539849548	0.93086	11.81309	0.779445182361551	0.88330	9.541768	0.999919411962109	0.45857	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	3.79	0.42757	5.501000	0.66665	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	13.958	0.63673	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	293.82	150	chr5	141303085	.	C	G	293.82	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-5.791e+00;DP=2886;ExcessHet=0.0000;FS=233.989;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=1.73;ReadPosRankSum=2.22;SOR=6.963	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485	19	0	1	1
chr5	141339813	141339813	T	C	exonic	PCDHGA2	.	nonsynonymous SNV	PCDHGA2:NM_018915:exon1:c.T842C:p.L281P	.	.	7	1511	4	0	0	4	0.00132188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.014	B	0.078	B	0.381	U	0.689	N	3.63	H	4.66	T	-0.964	T	0.013	T	0.453	-0.739	0.851	-10.5	-4.353	-6.895	3.261	0.150	0.00271722805466	.	0.000199681	0.0001	0	0	0	0	0.0002	0	0.0001	0.00011	17	154602	rs200162193	0.0001	0.0001	0.0001	0.0001	0.0007	9.535e-05	9.016e-05	0.0002	0.0001	0	0	0	0	0	0.0007	0.0001	0.0003	0.0001	9.193e-05	9.187e-05	7.711e-05	0.0001	0.0006	5.524e-05	4.362e-05	0.0002	9.007e-05	0	0	0	0	0	0	0.0034	0.0001	0	0.0006	0.005	0.63226	D	0.001	0.83351	D	0.005	0.16867	B	0.019	0.28627	B	0.380836	0.04419	U	1.662640	0.689347	0.33311	D	3.12	0.87914	M	4.66	0.01756	T	-3.77	0.71397	D	0.407	0.48227	-0.9635	0.38507	T	0.013	0.05225	T	10	0.08750498	0.14979	T	0.002717	0.05608	T	0.150	0.39571	.	.	0.239305524855	0.23518	0.5632509396734221	0.56252	0.582002306652	0.53975	.	.	.	0.241644	0.61022	T	-0.345009	0.05048	T	-0.496689	0.22692	T	0.106162622800316	0.13022	T	0.507849	0.16117	T	0.6425026	0.74965	0.48572338	0.70233	0.6425026	0.74966	0.48572338	0.70234	-11.499	0.82346	D	.	.	0.076	0.10787	B	.;.	.;.	0.587022	0.09555	6.331	0.48393506285395027	0.04035	0.02781	0.07488	N	AEFDBI	0.280026	0.39394	N	-1.68873283151015	0.00883	0.03819152	-1.95095446620584	0.00387	0.01710425	0.999999956009789	0.74766	0.549168	0.22868	0	0.547309	0.14657	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	5.26	-10.5	0.00234	-2.846000	0.00803	.	.	-0.891000	0.02386	0.000000	0.06391	0.000000	0.08366	0.558000	0.30364	0.3367:0.1221:0.0738:0.4674	3.261	0.06444	698	0.58074	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2475.98	33	chr5	141339813	.	T	C	2475.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.634;DP=1309;ExcessHet=0.0000;FS=1.864;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=-1.297e+00;SOR=0.869	GT:AD:DP:GQ:PL	0/1:82,97:179:99:2490,0,2008	20	0	1	0
chr5	141340907	141340907	A	G	exonic	PCDHGA2	.	nonsynonymous SNV	PCDHGA2:NM_018915:exon1:c.A1936G:p.I646V	.	.	10	1501	11	0	0	11	0.00365085	.	.	2825333	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.002	N	1.000	N	-2.13	N	0.5	T	-0.984	T	0.031	T	0.127	-1.979	0.007	4.28	0.716	4.525	10.260	0.121	0.00829180690256	0.0038	0.00339457	0.0057	0.0044	0.0027	0.0004	0.0038	0.0080	0.0044	0.0032	0.000815	126	154602	rs148082357	0.0066	0.0082	0.0067	0.0065	0.0076	0.0065	0.0064	0.0075	0.0074	0.0033	0.0024	0.0059	0.0004	0.0038	0.0011	0.0076	0.0057	0.0028	0.0065	0.0066	0.0067	0.0063	0.0092	0.0062	0.0060	0.0086	0.0083	0.0048	0	0.0041	0.0098	0.0002	0.0040	0	0.0092	0.0052	0.0033	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.002173	0.37095	N	0.000000	1	0.81001	D	-1.775	0.00311	N	0.5	0.55608	T	0.98	0.01447	N	0.133	0.13626	-0.9838	0.34116	T	0.031	0.13461	T	10	0.004855424	0.00103	T	0.008292	0.21954	T	0.121	0.33580	.	.	0.233150807113	0.22925	0.11226791778901746	0.11155	0.262710229248	0.28831	.	.	.	0.009553	0.08696	T	-0.551813	0.00284	T	-0.556022	0.16753	T	0.00402469210376187	0.00043	T	0.411359	0.11926	T	0.030672263	0.02772	0.04926815	0.07493	0.030672263	0.02771	0.04926815	0.07492	5.498	0.00002	T	.	.	0.055	0.00420	B	.;.	.;.	0.420978	0.07917	4.622	0.38833541151841894	0.02643	0.04777	0.10489	N	AEFBHI	0.029458	0.02782	N	-1.30841991716597	0.03578	0.1600848	-1.06367515432569	0.08424	0.4141547	0.00901567051933321	0.11781	0.549168	0.22868	0	0.588066	0.40923	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	5.14	4.28	0.50183	3.497000	0.53057	.	.	-0.855000	0.02678	1.000000	0.71638	1.000000	0.68203	0.042000	0.14466	0.222:0.0:0.778:0.0	10.260	0.42602	711	0.56613	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	380.98	33	chr5	141340907	.	A	G	380.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.899;DP=1160;ExcessHet=0.0000;FS=0.840;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=50.49;MQRankSum=-7.517e+00;QD=3.02;ReadPosRankSum=-2.527e+00;SOR=0.563	GT:AD:DP:GQ:PL	0/0:119,0:119:99:0,120,1800	20	0	1	0
chr5	141346011	141346011	C	G	exonic	PCDHGA3	.	nonsynonymous SNV	PCDHGA3:NM_018916:exon1:c.C1978G:p.L660V	.	.	12	1502	8	0	0	8	0.00265604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.031	B	0.173	B	0.250	U	1.000	N	0.05	N	0.55	T	-1.020	T	0.093	T	0.131	0.574	7.100	4.19	2.566	-0.187	10.097	0.081	0.0112362487732	.	0.000399361	0.0020	0.0005	0.0011	0.0008	0.0010	0.0030	0.0012	0.0005	0.0001921	5	26028	rs201663850	0.0016	0.0055	0.0016	0.0015	0.0019	0.0015	0.0015	0.0018	0.0018	0.0003	0.0004	0.0005	0.0006	0.0001	0.0002	0.0019	0.0010	0.0002	0.0001	0.0002	0.0001	0.0002	0.0004	8.664e-05	7.256e-05	0.0001	7.898e-05	0	0	0.0003	0	0.0004	0	0	0.0002	0	0.0004	0.368	0.11623	T	0.415	0.14326	T	0.025	0.20130	B	0.108	0.35463	B	0.249960	0.15531	U	0.341744	1	0.81001	D	0.675	0.16386	N	0.55	0.54728	T	-1.78	0.42001	N	0.132	0.14622	-1.0205	0.23551	T	0.093	0.35336	T	10	0.017173082	0.00365	T	0.011236	0.28661	T	0.081	0.23632	.	.	0.626812710122	0.62377	0.48724616299732404	0.48644	0.72637774397	0.62510	.	.	.	0.006932	0.06354	T	-0.234225	0.16093	T	-0.574224	0.15064	T	0.0163868849613396	0.00406	T	0.738226	0.39208	T	0.10906483	0.25786	0.10144965	0.24287	0.10906483	0.25786	0.10144965	0.24286	-4.465	0.30428	T	.	.	0.074	0.07507	B	.;.	.;.	1.436983	0.18559	13.80	0.91535529950151895	0.20812	0.17229	0.19746	N	AEFBI	0.093313	0.18882	N	-0.478640912924134	0.22781	1.21889	-0.321958282631181	0.27391	1.519538	0.00585000478085699	0.11059	0.516011	0.20929	0	0.588066	0.40923	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.12	4.19	0.48645	-0.303000	0.08249	.	.	0.578000	0.29377	0.000000	0.06391	0.431000	0.24855	0.331000	0.25224	0.1209:0.6637:0.2154:0.0	10.097	0.41655	725	0.54935	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	402.98	33	chr5	141346011	.	C	G	402.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.530e+00;DP=1493;ExcessHet=0.0000;FS=2.127;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=44.22;MQRankSum=-2.065e+00;QD=1.76;ReadPosRankSum=1.02;SOR=0.896	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1338	20	0	1	0
chr5	141346068	141346068	G	A	exonic	PCDHGA3	.	nonsynonymous SNV	PCDHGA3:NM_018916:exon1:c.G2035A:p.E679K	.	.	12	1498	12	0	0	12	0.00398936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.005	B	0.008	B	0.017	U	1.000	N	1.04	L	0.8	T	-1.094	T	0.005	T	0.045	1.429	10.72	-8.83	-1.320	-0.717	7.207	0.015	.	0.0002	0.0119808	0.0040	0	0.0004	0.0470	0	0.0004	0.0045	0.0021	0.0037268	97	26028	rs201885897	0.0018	0.0018	0.0018	0.0018	0.0536	0.0018	0.0018	0.0517	0.0509	5.975e-05	6.712e-05	0.0007	0.0536	0	0.0004	0.0002	0.0028	0.0022	0.0019	0.0019	0.0016	0.0022	0.0438	0.0017	0.0016	0.0391	0.0373	2.406e-05	0	0.0001	0.0012	0.0438	0	0	0.0004	0.0028	0.0039	0.358	0.11994	T	0.442	0.17217	T	0.005	0.12996	B	0.008	0.13708	B	0.017088	0.01457	U	418.642000	1	0.08975	N	0.6	0.15550	N	0.8	0.48769	T	-1.1	0.28497	N	0.086	0.06322	-1.0937	0.04944	T	0.005	0.01688	T	10	0.0026790798	0.00041	T	.	.	.	0.015	0.02232	.	.	0.369867359543	0.36593	0.6191855353020055	0.61851	0.477986179833	0.46890	.	.	.	0.00485	0.04270	T	-0.711151	0.00031	T	-0.748734	0.03535	T	0.0130645707129822	0.00228	T	0.0732927	0.00563	T	0.030292528	0.02669	0.041555088	0.04748	0.030292528	0.02668	0.041555088	0.04748	-5.203	0.38972	T	.	.	0.068	0.02861	B	.;.	.;.	0.125081	0.05219	1.726	0.88088100932119573	0.17707	0.01231	0.04354	N	AEFBI	0.079480	0.16054	N	-1.58782662025525	0.01326	0.05776808	-1.70497686907486	0.01115	0.05013864	0.976031649841797	0.29688	0.516011	0.20929	0	0.588066	0.40923	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	4.74	-8.83	0.00696	-0.311000	0.08164	.	.	-0.146000	0.12295	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.1244:0.0981:0.6311:0.1463	7.207	0.25085	725	0.54935	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4679.11	33	chr5	141346068	.	G	A	4679.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.75;DP=1608;ExcessHet=0.1072;FS=1.303;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=46.36;MQRankSum=0.373;QD=14.18;ReadPosRankSum=-8.900e-01;SOR=0.740	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1338	19	0	2	0
chr5	141355264	141355264	G	T	exonic	PCDHGA4	.	nonsynonymous SNV	PCDHGA4:NM_018917:exon1:c.G157T:p.V53F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0225627554504	0.0027	0.00119808	0.0005	0.0066	0.0002	0	0	0	0	0	0.0005045	78	154602	rs201894028	0.0002	0.0002	0.0002	0.0001	0.0052	0.0001	0.0001	0.0046	0.0044	0.0052	0.0004	0	0	0	0	5.396e-06	0.0006	0	0.0020	0.0020	0.0021	0.0018	0.0065	0.0018	0.0017	0.0059	0.0056	0.0065	0	0.0012	0	0	0	0	2.94e-05	0.0024	0.0002	.	.	.	0.402	0.16473	T	.	.	.	.	.	.	.	.	.	.	0.984586	0.40165	D	.	.	.	.	.	.	.	.	.	0.074	0.04913	.	.	.	.	.	.	.	0.006420195	0.00145	T	0.022563	0.45460	T	.	.	.	.	0.638638447811	0.63566	0.2350518243962854	0.23420	0.390049637415	0.40229	.	.	.	.	.	.	-0.503822	0.00544	T	-0.493731	0.23001	T	.	.	.	0.0916908	0.00679	T	0.042650994	0.06507	0.07883799	0.17694	0.042650994	0.06506	0.07883799	0.17694	-4.308	0.28288	T	.	.	0.062	0.01348	B	.;.	.;.	0.874362	0.12472	9.005	0.66639371078029497	0.08118	0.07143	0.13168	N	AEFDBHCI	0.037863	0.05272	N	.	.	.	.	.	.	0.999700859383152	0.41986	0.455138	0.09556	0	0.547309	0.14657	0	0.578056	0.29568	0	0.56751	0.32155	0	.	.	5.65	-3.09	0.05006	-0.058000	0.11707	.	.	-1.616000	0.00874	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2523:0.0:0.1604:0.5873	5.759	0.17457	638	0.64280	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1169.98	33	chr5	141355264	.	G	T	1169.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.210e-01;DP=802;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.45;ReadPosRankSum=-8.230e-01;SOR=0.694	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1262	20	0	1	0
chr5	141356585	141356585	C	G	exonic	PCDHGA4	.	nonsynonymous SNV	PCDHGA4:NM_018917:exon1:c.C1478G:p.P493R	.	.	412	1076	32	2	0	36	0.0164534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.00199681	0.0024	0.0004	0.0006	0	0	0.0012	0.0033	0.0116	0.0020634	319	154602	rs11575950	0.0014	0.0014	0.0009	0.0018	0.0129	0.0013	0.0013	0.0122	0.0120	0.0001	0.0004	0.0084	2.519e-05	7.488e-05	0.0104	0.0004	0.0021	0.0129	0.0010	0.0010	0.0009	0.0011	0.0143	0.0008	0.0008	0.0116	0.0106	2.406e-05	0	0.0004	0.0078	0	0	0	0.0006	0.0024	0.0143	.	.	.	0.268	0.34596	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.128	0.12198	.	.	.	.	.	.	.	0.009448558	0.00213	T	.	.	.	.	.	.	.	0.708209581343	0.70566	0.16619594975698668	0.16539	0.601724968327	0.55209	.	.	.	.	.	.	-0.446249	0.01188	T	-0.403395	0.32990	T	.	.	.	0.786121	0.47860	T	0.12372891	0.29045	0.19821483	0.43643	0.12372891	0.29045	0.19821483	0.43643	-7.023	0.54202	T	.	.	0.100	0.17232	B	.;.	.;.	1.196878	0.15889	12.17	0.7920867795643789	0.12638	0.15499	0.18941	N	AEFBI	0.203332	0.32985	N	.	.	.	.	.	.	0.457882207940288	0.20598	0.582742	0.33608	0	0.547309	0.14657	0	0.602189	0.34648	0	0.620976	0.48614	0	.	.	5.68	1.82	0.24209	-2.055000	0.01485	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.296000	0.24405	0.1184:0.6214:0.0:0.2602	6.922	0.23576	641	0.64016	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	13005.68	33	chr5	141356585	.	C	G	13005.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.890e+00;DP=1926;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=0.036;SOR=0.690	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1262	18	0	3	0
chr5	141361949	141361949	C	A	exonic	PCDHGB2	.	nonsynonymous SNV	PCDHGB2:NM_018923:exon1:c.C1814A:p.S605Y	.	.	40	1417	59	6	0	71	0.0244406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	N	2.995	M	0.61	T	-0.609	T	0.348	T	0.657	3.208	16.74	3.94	1.147	4.646	12.961	0.453	.	0.0007	0.0111821	0.0094	0.0008	0.0010	0	0	0.0024	0.0099	0.0485	0.0035731	93	26028	rs202129585	0.0039	0.0039	0.0025	0.0053	0.0453	0.0038	0.0038	0.0442	0.0437	0.0003	0.0008	0.0043	0.0001	0.0002	0.0201	0.0011	0.0049	0.0453	0.0026	0.0026	0.0018	0.0034	0.0445	0.0024	0.0023	0.0396	0.0378	0.0002	0	0.0015	0.0040	0.0004	9.422e-05	0.0238	0.0016	0.0038	0.0445	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.992	0.92359	D	.	.	.	.	1	0.81001	D	3.76	0.95097	H	0.61	0.53516	T	-5.11	0.83092	D	0.667	0.68169	-0.6087	0.64458	T	0.348	0.71289	T	9	0.012059331	0.00261	T	.	.	.	0.453	0.75279	.	.	0.761273591808	0.75910	0.5139250221706769	0.51314	.	.	.	.	.	0.064256	0.32388	T	-0.245092	0.14705	T	-0.0905257	0.64122	T	0.0981431249967783	0.12151	T	0.937306	0.81867	D	0.7034151	0.78244	0.70926154	0.82853	0.7034151	0.78245	0.70926154	0.82854	-14.381	0.95005	D	.	.	0.392	0.59148	A	.;.	.;.	4.209486	0.63584	24.6	0.99200775043280909	0.55261	0.98332	0.81714	D	AEFBI	0.752301	0.69284	D	0.605565791628079	0.73526	5.980558	0.510155191627467	0.68672	5.252489	0.965311217015781	0.28822	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.616125	0.45549	0	.	.	4.81	3.94	0.44807	3.899000	0.56000	.	.	0.544000	0.25403	0.990000	0.36992	0.999000	0.35428	0.998000	0.85391	0.0:0.9194:0.0:0.0806	12.961	0.57857	648	0.63242	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2195.98	120	chr5	141361949	.	C	A	2195.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.897;DP=967;ExcessHet=0.0000;FS=1.456;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=38.39;MQRankSum=-4.850e-01;QD=18.30;ReadPosRankSum=0.511;SOR=0.556	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1486	20	0	1	0
chr5	141364882	141364882	C	G	exonic	PCDHGA5	.	nonsynonymous SNV	PCDHGA5:NM_018918:exon1:c.C552G:p.S184R	.	.	195	1323	4	0	0	4	0.00150943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.015	B	0.06	B	.	.	1.000	N	2.04	M	0.6	T	-0.924	T	0.118	T	0.183	-0.067	3.675	-4.13	-0.457	-1.588	0.905	0.064	0.0157091119321	0.0010	0.000798722	0.0010	0.0001	0.0002	0	0	0.0012	0.0011	0.0021	0.0010284	159	154602	rs199576947	0.0017	0.0017	0.0016	0.0018	0.0026	0.0016	0.0016	0.0023	0.0022	0.0004	0.0003	0	2.519e-05	0.0001	0.0005	0.0019	0.0020	0.0026	0.0009	0.0009	0.0010	0.0008	0.0031	0.0008	0.0007	0.0019	0.0015	0.0002	0	0.0004	0	0	9.429e-05	0	0.0016	0	0.0031	0.217	0.19157	T	0.19	0.28482	T	0.012	0.17086	B	0.053	0.26717	B	.	.	.	.	1	0.08975	N	1.91	0.51138	L	0.6	0.53731	T	-2.36	0.52128	N	0.075	0.14196	-0.9237	0.45041	T	0.118	0.41538	T	9	0.0066042244	0.00150	T	0.015709	0.36593	T	0.064	0.18567	0.243	0.17677	0.275215494804	0.27121	0.222931317268577	0.22208	0.204618807998	0.22881	.	.	.	0.251078	0.62128	T	-0.544999	0.00313	T	-0.562106	0.16179	T	0.00547458650544286	0.00059	T	0.140186	0.01195	T	0.15662421	0.35335	0.15651007	0.36639	0.15662421	0.35335	0.15651007	0.36638	-5.595	0.42838	T	.	.	0.171	0.37633	B	.;.	.;.	1.424350	0.18417	13.72	0.89483925952948262	0.18836	0.05660	0.11574	N	AEFDBI	0.143892	0.26672	N	-0.983676379017338	0.08952	0.421741	-1.02886134338145	0.09153	0.4538258	0.675691024377415	0.22423	0.549168	0.22868	0	0.573888	0.26702	0	0.578056	0.29568	0	0.616125	0.45549	0	.	.	5.52	-4.13	0.03639	-1.979000	0.01583	.	.	-0.222000	0.07959	0.000000	0.06391	0.000000	0.08366	0.875000	0.41745	0.1739:0.2671:0.214:0.3449	0.905	0.01201	649	0.63102	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1921.98	35	chr5	141364882	.	C	G	1921.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=1225;ExcessHet=0.0000;FS=1.201;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.05;ReadPosRankSum=-8.390e-01;SOR=0.593	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1026	20	0	1	0
chr5	141371524	141371524	G	A	exonic	PCDHGB3	.	nonsynonymous SNV	PCDHGB3:NM_018924:exon1:c.G1130A:p.G377E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0232434082068	.	.	.	.	.	.	.	.	.	.	.	.	.	rs991848334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.36497	T	0.848	0.60036	P	0.764	0.56720	P	.	.	.	.	1	0.81001	D	2.3	0.65703	M	1.69	0.27032	T	.	.	.	0.294	0.33250	.	.	.	.	.	.	.	0.273821	0.44933	T	0.023243	0.46189	T	.	.	.	.	0.797071102372	0.79518	0.16412529570198028	0.16332	0.943980234516	0.72329	.	.	.	0.190057	0.54447	T	-0.130574	0.31404	T	-0.425337	0.30466	T	.	.	.	0.724128	0.37862	T	0.36411452	0.58147	0.42829463	0.66547	0.36411452	0.58147	0.42829463	0.66547	-8.305	0.63129	D	.	.	0.222	0.50129	B	.;.	.;.	2.711741	0.35449	19.90	0.99195775189883928	0.55112	0.67248	0.33364	D	AEFBI	0.208548	0.33462	N	.	.	.	.	.	.	0.753841636206727	0.23402	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.616125	0.45549	0	.	.	4.88	3.09	0.34677	1.202000	0.31878	.	.	0.676000	0.76740	0.861000	0.30630	0.138000	0.23065	0.934000	0.47231	0.152:0.0:0.848:0.0	11.043	0.47059	650	0.62973	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1813.98	34	chr5	141371524	.	G	A	1813.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.35;DP=1158;ExcessHet=0.0000;FS=1.437;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.63;ReadPosRankSum=-1.067e+00;SOR=0.563	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1175	20	0	1	0
chr5	141375804	141375804	G	A	exonic	PCDHGA6	.	nonsynonymous SNV	PCDHGA6:NM_018919:exon1:c.G1721A:p.G574D	.	.	10	1510	2	0	0	2	0.000661813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.995	D	0.949	D	0.008	U	1.000	N	1.43	L	0.28	T	-0.797	T	0.270	T	0.44	1.608	11.33	4.57	2.541	0.796	9.976	0.147	.	.	0.00359425	0.0017	0.0001	8.648e-05	0	0	1.503e-05	0	0.0120	0.0014812	229	154602	rs375695435	0.0007	0.0007	0.0003	0.0010	0.0106	0.0006	0.0006	0.0101	0.0098	0	0	0	0	0	0.0005	8.093e-06	0.0005	0.0106	0.0005	0.0005	0.0003	0.0007	0.0147	0.0004	0.0004	0.0119	0.0109	7.214e-05	0	0	0	0	0	0	0	0	0.0147	0.135	0.26192	T	0.204	0.39492	T	0.975	0.67487	D	0.835	0.68658	P	0.007869	0.31148	U	0.000000	0.999996	0.08975	N	0.895	0.22405	L	0.28	0.59037	T	-6.68	0.92391	D	0.744	0.74371	-0.7967	0.55338	T	0.270	0.64109	T	10	0.008832425	0.00200	T	.	.	.	0.147	0.38986	0.264	0.20946	0.839266715026	0.83773	0.3456527722345539	0.34479	1.07573866889	0.76955	.	.	.	0.160542	0.50443	T	-0.402218	0.02239	T	-0.34114	0.40215	T	0.135002378821729	0.15836	T	0.80292	0.46599	T	0.33532003	0.55904	0.32873034	0.58759	0.33532003	0.55904	0.32873034	0.58758	-12.653	0.87883	D	.	.	0.373	0.59700	A	.;.	.;.	3.538839	0.49694	22.8	0.99452662934818414	0.65376	0.36681	0.25589	N	AEFBI	0.253565	0.37304	N	0.156429322836627	0.49116	3.115699	0.0491670953265761	0.42033	2.535296	0.1225962527458	0.16917	0.676563	0.55306	0	0.588015	0.36545	0	0.576033	0.28219	0	0.600526	0.37237	0	.	.	4.57	4.57	0.55860	0.243000	0.17880	.	.	0.676000	0.76740	0.001000	0.13787	1.000000	0.68203	0.141000	0.19983	0.0:0.2558:0.6064:0.1378	9.976	0.40952	651	0.62880	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3005.98	33	chr5	141375804	.	G	A	3005.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.300e-01;DP=1219;ExcessHet=0.0000;FS=2.728;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.15;MQRankSum=-9.100e-02;QD=11.52;ReadPosRankSum=0.547;SOR=0.863	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,114,1710	20	0	1	0
chr5	141376236	141376236	G	T	exonic	PCDHGA6	.	nonsynonymous SNV	PCDHGA6:NM_018919:exon1:c.G2153T:p.R718L	.	.	9	1506	7	0	0	7	0.00231865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.963	D	0.785	P	0.353	U	1.000	N	3.725	H	1.92	T	-0.943	T	0.204	T	0.393	3.392	17.45	0.485	0.204	-0.180	8.777	0.185	.	7.7e-05	0.0103834	0.0063	0.0004	0.0002	0.0002	0	8.993e-05	0.0066	0.0452	0.0054398	841	154602	rs202155785	0.0029	0.0029	0.0017	0.0042	0.0462	0.0028	0.0028	0.0450	0.0445	8.961e-05	2.236e-05	0	0	1.872e-05	0.0007	7.464e-05	0.0027	0.0462	0.0016	0.0016	0.0008	0.0023	0.0464	0.0014	0.0013	0.0414	0.0395	9.62e-05	0	0.0002	0	0.0002	0	0.0068	1.47e-05	0.0009	0.0464	0.005	0.63226	D	0.007	0.70582	D	0.824	0.55692	P	0.701	0.57495	P	0.353247	0.04258	U	2.171190	1	0.81001	D	3.665	0.94315	H	1.92	0.23082	T	-6.12	0.90060	D	0.314	0.35408	-0.9431	0.42121	T	0.204	0.56211	T	10	0.0064613223	0.00146	T	.	.	.	0.185	0.45933	.	.	0.489449420884	0.48578	0.38671744616276044	0.38586	0.378167440196	0.39236	.	.	.	0.150445	0.48992	T	-0.455186	0.01052	T	-0.392312	0.34281	T	0.143400491275154	0.16564	T	0.782522	0.41827	T	0.24809141	0.47793	0.27615562	0.53558	0.24809141	0.47793	0.27615562	0.53557	-9.779	0.72577	D	.	.	0.135	0.29450	B	.;.	.;.	2.641943	0.34377	19.61	0.99685430483109627	0.79574	0.53091	0.29288	D	AEFDBI	0.217496	0.34261	N	0.0717561437586226	0.45148	2.776	-0.148457934583363	0.33468	1.91472	0.201016023831161	0.18123	0.646311	0.45356	0	0.588015	0.36545	0	0.645312	0.48771	0	0.616125	0.45549	0	.	.	5.15	0.485	0.16040	-0.002000	0.12858	.	.	-0.108000	0.15293	0.000000	0.06391	0.000000	0.08366	0.260000	0.23518	0.4156:0.0:0.5844:0.0	8.777	0.33928	651	0.62880	Cadherin, cytoplasmic C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3847.98	33	chr5	141376236	.	G	T	3847.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.779;DP=1080;ExcessHet=0.0000;FS=2.013;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.82;MQRankSum=0.598;QD=13.89;ReadPosRankSum=0.882;SOR=0.821	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,114,1710	20	0	1	0
chr5	141389277	141389277	C	T	exonic	PCDHGB4	.	nonsynonymous SNV	PCDHGB4:NM_003736:exon1:c.C1393T:p.P465S	.	.	418	1084	20	0	0	20	0.00914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.857	P	0.789	P	.	.	1.000	N	0.84	L	0.73	T	-1.037	T	0.100	T	0.488	1.501	10.97	4.26	2.568	1.240	6.567	0.153	0.0269137542007	0.0059	0.00339457	0.0045	0.0015	0.0030	0	0.0003	0.0066	0.0078	0.0024	0.0001537	4	26028	rs148279287	0.0046	0.0046	0.0046	0.0046	0.0147	0.0045	0.0044	0.0122	0.0113	0.0013	0.0040	0.0064	0	0.0007	0.0147	0.0051	0.0051	0.0020	0.0043	0.0043	0.0045	0.0041	0.0076	0.0040	0.0039	0.0065	0.0060	0.0011	0.0417	0.0076	0.0058	0.0002	0.0006	0.0272	0.0059	0.0043	0.0017	0.305	0.14256	T	0.332	0.26883	T	0.421	0.47240	B	0.376	0.57669	B	.	.	.	.	1	0.81001	D	2.02	0.55341	M	0.73	0.50721	T	-2.66	0.56945	D	0.057	0.19861	-1.0372	0.18171	T	0.100	0.37137	T	9	0.008891255	0.00201	T	0.026914	0.49784	D	0.153	0.40148	.	.	0.559885124835	0.55649	0.26064744022772	0.25978	.	.	.	.	.	0.185007	0.53784	T	-0.406474	0.02098	T	-0.352643	0.38901	T	0.0224358848409932	0.00958	T	0.758124	0.51891	T	0.102983415	0.24337	0.10584765	0.25452	0.102983415	0.24337	0.10584765	0.25452	-6.32	0.48880	T	.	.	0.124	0.29751	B	.;.	.;.	2.664947	0.34729	19.71	0.99520966878309114	0.69222	0.64280	0.32356	D	AEFBI	0.309372	0.41569	N	-0.254240802489209	0.30935	1.729666	-0.313481041660855	0.27663	1.536576	0.950139025234648	0.27880	0.676563	0.55306	0	0.588066	0.40923	0	0.667671	0.60360	0	0.600526	0.37237	0	.	.	5.14	4.26	0.49832	1.097000	0.30600	.	.	0.524000	0.24156	0.021000	0.19753	0.005000	0.19230	0.002000	0.04165	0.1335:0.6591:0.1299:0.0775	6.567	0.21711	754	0.51307	.;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	566.98	34	chr5	141389277	.	C	T	566.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.295;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.46;ReadPosRankSum=-6.130e-01;SOR=0.723	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr5	141398905	141398905	A	G	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.A778G:p.T260A	.	.	427	1087	8	0	0	8	0.00366636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.000798722	0.0011	0.0001	0.0006	0	0	0.0017	0.0011	0.0004	0.0010543	163	154602	rs200564636	0.0012	0.0012	0.0012	0.0012	0.0033	0.0012	0.0012	0.0022	0.0018	0.0002	0.0008	0.0062	0	9.369e-05	0.0033	0.0013	0.0014	0.0003	0.0009	0.0009	0.0010	0.0008	0.0015	0.0008	0.0008	0.0013	0.0012	0.0002	0	0.0003	0.0061	0	0	0.0068	0.0015	0.0019	0	.	.	.	0.514	0.10967	T	0.001	0.07471	B	0.003	0.11217	B	.	.	.	.	1	0.08975	N	1.055	0.26876	L	.	.	.	.	.	.	0.029	0.01004	.	.	.	.	.	.	.	0.0033990443	0.00059	T	.	.	.	.	.	.	.	0.0482279557977	0.04254	0.1553760204370965	0.15458	.	.	.	.	.	0.011156	0.09990	T	-0.565557	0.00235	T	-0.609787	0.12003	T	.	.	.	0.106489	0.00795	T	0.03640101	0.04471	0.064445935	0.12916	0.03640101	0.04471	0.064445935	0.12916	-6.287	0.48619	T	.	.	0.057	0.00604	B	.;.	.;.	-0.612930	0.01537	0.099	0.21993172768350247	0.00864	0.02024	0.06075	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999999895559377	0.74766	0.145562	0.03210	1	0.18701	0.04157	0	0.072005	0.02045	0	0.234357	0.04698	0	0.0559214	0.13108	4.89	-9.77	0.00416	-6.726000	0.00069	.	.	-0.982000	0.01892	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1889:0.2653:0.2771:0.2687	0.989	0.01362	809	0.43032	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2521.98	118	chr5	141398905	.	A	G	2521.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.080e-01;DP=1580;ExcessHet=0.0000;FS=3.021;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=0.267;SOR=0.905	GT:AD:DP:GQ:PL	0/0:159,0:159:99:0,120,1800	20	0	1	0
chr5	141399395	141399395	G	A	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.G1268A:p.R423K	.	.	422	1048	52	0	0	52	0.0242086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0115815	0.0072	0.0003	0.0010	0.0002	0	0.0009	0.0056	0.0474	0.0062354	964	154602	rs200724467	0.0034	0.0034	0.0020	0.0048	0.0467	0.0033	0.0033	0.0455	0.0450	0.0001	0.0005	0.0010	0.0001	0	0.0083	0.0006	0.0037	0.0467	0.0021	0.0022	0.0013	0.0031	0.0542	0.0020	0.0019	0.0488	0.0467	0.0002	0	0.0006	0.0006	0.0002	0	0	0.0006	0.0009	0.0542	.	.	.	0.978	0.02725	T	0.004	0.12183	B	0.008	0.16862	B	.	.	.	.	1	0.08975	N	-0.12	0.04575	N	.	.	.	.	.	.	0.029	0.01911	.	.	.	.	.	.	.	0.0063636303	0.00144	T	.	.	.	.	.	.	.	0.396345573744	0.39253	0.14224547678667673	0.14147	.	.	.	.	.	0.003024	0.02422	T	-0.578101	0.00198	T	-0.56887	0.15553	T	.	.	.	0.19718	0.02190	T	0.055138256	0.10677	0.13391058	0.32101	0.055138256	0.10676	0.13391058	0.32100	-4.491	0.31382	T	.	.	0.077	0.06387	B	.;.	.;.	0.336922	0.07107	3.681	0.81841351350510849	0.13887	0.02416	0.06831	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.0952349597335558	0.16223	0.145562	0.03210	1	0.097471	0.02872	0	0.072005	0.02045	0	0.234357	0.04698	0	0.129061	0.25605	4.63	1.54	0.22290	0.019000	0.13337	.	.	-0.151000	0.12117	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.4323:0.0:0.4119:0.1558	4.216	0.09991	809	0.43032	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	6293.11	118	chr5	141399395	.	G	A	6293.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.65;DP=1983;ExcessHet=0.1072;FS=1.101;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=0.206;SOR=0.589	GT:AD:DP:GQ:PL	0/0:159,0:159:99:0,120,1800	19	0	2	0
chr5	141399494	141399494	G	C	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.G1367C:p.S456T	.	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.2e-05	0.00279553	0.0004	0	0	0	0	9.002e-05	0.0011	0.0024	0.000414	64	154602	rs371319055	0.0002	0.0002	0.0001	0.0003	0.0016	0.0002	0.0002	0.0013	0.0013	0	0	0	0	0	0.0002	0.0001	0.0001	0.0016	0.0002	0.0002	0.0001	0.0002	0.0035	0.0001	9.692e-05	0.0022	0.0018	0	0	6.531e-05	0	0	0	0	0.0001	0	0.0035	.	.	.	0.006	0.72224	D	0.006	0.14655	B	0.004	0.12133	B	.	.	.	.	0.999941	0.19238	N	0.83	0.20963	L	.	.	.	.	.	.	0.114	0.10911	.	.	.	.	.	.	.	0.00464502	0.00097	T	.	.	.	.	.	.	.	0.33085137897	0.32697	0.06359673034879579	0.06298	.	.	.	.	.	0.01083	0.09734	T	-0.459527	0.00990	T	-0.440119	0.28796	T	.	.	.	0.540046	0.48193	T	0.04383757	0.06905	0.09181301	0.21604	0.04383757	0.06904	0.09181301	0.21603	-5.738	0.44365	T	.	.	0.087	0.11414	B	.;.	.;.	1.467995	0.18916	13.99	0.46545528553732773	0.03736	0.09385	0.15151	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.88311034909163	0.25667	0.145562	0.03210	1	0.18701	0.04157	0	0.072005	0.02045	0	0.234357	0.04698	0	0.0563766	0.13300	4.49	3.34	0.37357	2.317000	0.43429	.	.	-0.749000	0.03603	0.004000	0.16614	0.000000	0.08366	0.000000	0.00833	0.77:0.0:0.0845:0.1455	5.951	0.18485	809	0.43032	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3228.98	118	chr5	141399494	.	G	C	3228.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.850;DP=2006;ExcessHet=0.0000;FS=7.298;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=-2.770e-01;SOR=1.001	GT:AD:DP:GQ:PL	0/0:159,0:159:99:0,120,1800	20	0	1	0
chr5	141400463	141400463	A	G	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.A2336G:p.D779G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.065e-06	5.274e-05	1.371e-06	2.765e-06	2.718e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.718e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.44302	T	0.009	0.15093	B	0.029	0.21540	B	.	.	.	.	1	0.81001	D	1.51	0.38214	L	.	.	.	.	.	.	0.241	0.34659	.	.	.	.	.	.	.	0.20647642	0.36910	T	.	.	.	.	.	.	.	0.567858160113	0.56450	0.27775437007942005	0.27688	.	.	.	.	.	0.07356	0.34727	T	0.118978	0.66270	D	-0.0668731	0.65849	T	.	.	.	0.475152	0.14192	T	0.18996084	0.40560	0.40470845	0.64891	0.18996084	0.40560	0.40470845	0.64891	-4.16	0.26766	T	.	.	0.089	0.12323	B	.;.	.;.	3.615017	0.51130	23.0	0.70790902653605781	0.09412	0.84947	0.44044	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999600704005591	0.40866	0.090766	0.02384	0	0.097471	0.02872	0	0.129117	0.03641	0	0.023427	0.00073	3	0.343073	0.36021	5.25	5.25	0.73169	2.964000	0.48885	.	.	0.751000	0.87719	1.000000	0.71638	0.999000	0.35428	0.831000	0.39176	0.9146:0.0:0.0854:0.0	9.287	0.36925	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	4374.45	280	chr5	141400463	.	A	G	4374.45	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-6.509e+00;DP=4902;ExcessHet=17.4423;FS=250.847;InbreedingCoeff=-0.5560;MLEAC=15;MLEAF=0.357;MQ=59.98;MQRankSum=0.00;QD=1.01;ReadPosRankSum=0.940;SOR=14.362	GT:AD:DP:GQ:PL	0/1:222,77:299:99:203,0,4548	6	0	15	0
chr5	141403718	141403718	C	T	exonic	PCDHGA9	.	nonsynonymous SNV	PCDHGA9:NM_018921:exon1:c.C766T:p.P256S	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0077	0.00379393	0.0090	0.0018	0.0038	0	0.0426	0.0109	0.0179	0	0.0085769	1326	154602	rs77227638	0.0099	0.0099	0.0104	0.0095	0.0107	0.0098	0.0098	0.0105	0.0105	0.0013	0.0027	0.0013	0	0.0372	0.0009	0.0107	0.0074	3.478e-05	0.0089	0.0089	0.0081	0.0096	0.0116	0.0085	0.0083	0.0109	0.0107	0.0018	0.0099	0.0026	0.0017	0	0.0390	0	0.0116	0.0071	0	.	.	.	0.087	0.50514	T	0.251	0.36725	B	0.099	0.43430	B	.	.	.	.	1	0.81001	D	1.645	0.42016	L	0.58	0.54149	T	.	.	.	0.106	0.09066	.	.	.	.	.	.	.	0.0028806329	0.00046	T	.	.	.	.	.	.	.	0.895932456608	0.89490	0.25120172243692335	0.25034	0.360842157286	0.37744	.	.	.	0.084659	0.37328	T	-0.555548	0.00270	T	-0.559751	0.16400	T	.	.	.	0.680232	0.28883	T	0.058086567	0.11641	0.20739435	0.44997	0.058086567	0.11641	0.20739435	0.44996	-4.64	0.33573	T	.	.	0.078	0.06990	B	.;.	.;.	1.954196	0.24822	16.54	0.99046135643137423	0.51140	0.39129	0.26143	N	AEFBI	0.390331	0.46920	N	.	.	.	.	.	.	0.940727519584655	0.27444	0.582742	0.33608	0	0.588066	0.40923	0	0.578056	0.29568	0	0.620976	0.48614	0	.	.	5.23	3.38	0.37806	0.177000	0.16615	.	.	0.545000	0.25583	0.000000	0.06391	0.000000	0.08366	0.594000	0.31239	0.139:0.7187:0.1423:0.0	11.336	0.48741	809	0.43032	.;Cadherin-like|Cadherin-like	.	.	.	.	rs77227638	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2239.98	35	chr5	141403718	.	C	T	2239.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.312e+00;DP=880;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=-1.752e+00;SOR=0.674	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1108	20	0	1	0
chr5	141408395	141408395	A	G	exonic	PCDHGB6	.	nonsynonymous SNV	PCDHGB6:NM_018926:exon1:c.A193G:p.K65E	.	.	427	992	96	7	0	110	0.052531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.289	B	0.33	B	.	.	1.000	N	2.395	M	1.66	T	-0.966	T	0.092	T	0.514	2.824	15.41	5.38	2.036	1.968	11.343	0.143	.	0.0039	0.0177716	0.0132	0.0018	0.0073	0.0002	0.0002	0.0060	0.0112	0.0649	0.0115652	1788	154602	rs200317374	0.0090	0.0090	0.0072	0.0109	0.0640	0.0089	0.0088	0.0626	0.0620	0.0013	0.0071	0.0148	0.0002	0.0005	0.0333	0.0054	0.0104	0.0640	0.0065	0.0065	0.0056	0.0074	0.0700	0.0061	0.0060	0.0638	0.0614	0.0015	0	0.0097	0.0138	0.0002	0	0.0238	0.0053	0.0099	0.0700	0.163	0.23450	T	0.139	0.33666	T	0.245	0.32288	B	0.222	0.42079	B	.	.	.	.	1	0.81001	D	2.305	0.65957	M	1.66	0.27486	T	-2.58	0.55662	D	0.319	0.35938	-0.9662	0.37974	T	0.092	0.35201	T	9	0.0031889975	0.00054	T	.	.	.	0.143	0.38195	.	.	.	.	0.6703808707331448	0.66976	0.709368004076	0.61626	.	.	.	0.027923	0.20342	T	-0.44909	0.01144	T	-0.370749	0.36801	T	0.0475444560771186	0.05062	T	0.354964	0.08219	T	0.2165191	0.44112	0.34913993	0.60543	0.2165191	0.44112	0.34913993	0.60543	-9.816	0.73834	D	.	.	0.290	0.52202	B	.;.	.;.	2.840616	0.37476	20.5	0.99325023159566861	0.59546	0.60219	0.31134	D	AEFDGBI	0.346170	0.44107	N	-0.0240420988650684	0.40769	2.426813	0.0169669784007313	0.40504	2.418219	0.999999795248276	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.519653	0.09787	0	0.56751	0.32155	0	.	.	5.38	5.38	0.77279	2.296000	0.43245	.	.	0.542000	0.25261	0.004000	0.16614	0.001000	0.17328	0.750000	0.35786	0.9269:0.0:0.0731:0.0	11.343	0.48780	814	0.42100	.;Cadherin, N-terminal|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4518.11	35	chr5	141408395	.	A	G	4518.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.424e+00;DP=1281;ExcessHet=0.1072;FS=1.103;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=57.60;MQRankSum=-7.886e+00;QD=10.91;ReadPosRankSum=0.912;SOR=0.613	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1458	19	0	2	0
chr5	141415225	141415225	T	C	exonic	PCDHGA10	.	nonsynonymous SNV	PCDHGA10:NM_018913:exon1:c.T2050C:p.S684P	.	.	6	1504	12	0	0	12	0.00397351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.001	B	0.001	B	.	.	1.000	N	1.24	L	0.75	T	-1.077	T	0.045	T	0.061	1.193	9.849	-11.1	-1.576	-2.953	3.149	0.024	0.0042821845511	0.0069	0.00259585	0.0055	0.0017	0.0029	0	0.0039	0.0083	0.0022	0.0024	0.005705	882	154602	rs189700811	0.0078	0.0078	0.0079	0.0077	0.0092	0.0077	0.0076	0.0091	0.0090	0.0014	0.0028	0.0070	2.519e-05	0.0045	0.0010	0.0092	0.0066	0.0022	0.0055	0.0055	0.0058	0.0053	0.0090	0.0052	0.0051	0.0085	0.0082	0.0016	0	0.0043	0.0092	0	0.0046	0	0.0090	0.0038	0.0015	0.573	0.06125	T	0.374	0.16280	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.11	0.04642	N	0.75	0.50192	T	-0.27	0.11366	N	0.061	0.03392	-1.0771	0.07922	T	0.045	0.19518	T	9	0.0035395324	0.00063	T	0.004282	0.10373	T	0.024	0.04979	.	.	0.212008924253	0.20833	0.3178876125496318	0.31701	0.598929250536	0.55043	.	.	.	0.00116	0.00668	T	-0.698324	0.00037	T	-0.766476	0.02886	T	0.00130548884503554	0.00013	T	0.050395	0.00358	T	0.04136224	0.06077	0.04469471	0.05848	0.04136224	0.06076	0.04469471	0.05847	-3.218	0.16869	T	.	.	0.060	0.01011	B	.;.	.;.	-2.251075	0.00057	0.001	0.53883161663882129	0.05027	0.02943	0.07767	N	AEFDBCI	0.131593	0.25059	N	-1.602148952853	0.01253	0.05454824	-1.74620261255404	0.00947	0.04242356	0.99999999842082	0.74766	0.676563	0.55306	0	0.627608	0.54475	0	0.723109	0.80598	0	0.600526	0.37237	0	.	.	5.57	-11.1	0.00116	-3.162000	0.00637	.	.	-0.795000	0.03215	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3138:0.4163:0.1726:0.0973	3.149	0.06093	819	0.41190	.;.	PCDHB19P	Skin_Sun_Exposed_Lower_leg	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2150.98	47	chr5	141415225	.	T	C	2150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.48;DP=1230;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.46;MQRankSum=-3.540e-01;QD=12.08;ReadPosRankSum=-2.335e+00;SOR=0.695	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,117,1673	20	0	1	0
chr5	141415642	141415642	-	A	exonic	PCDHGA10	.	frameshift insertion	PCDHGA10:NM_032090:exon1:c.2467dupA:p.I827Dfs*6,	.	.	49	1321	16	0	136	152	0.00601956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	775.05	47	chr5	141415641	.	TA	T,TAA	775.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.308;DP=1080;ExcessHet=0.1072;FS=8.908;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=59.88;MQRankSum=0.00;QD=5.13;ReadPosRankSum=1.14;SOR=1.384	GT:AD:DP:GQ:PL	0/0:56,0,0:56:99:0,117,1673,117,1673,1673	19	0	1	0
chr5	141418821	141418821	C	A	exonic	PCDHGB7	.	nonsynonymous SNV	PCDHGB7:NM_018927:exon1:c.C962A:p.A321E	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.993	D	0.110	U	1.000	D	4.6	H	-0.98	T	0.854	D	0.744	D	0.835	2.779	15.25	3.52	0.526	3.148	13.317	0.682	0.0739927211298	.	.	0	0	0	0	0	0	0	0	2.59e-05	4	154602	rs750200042	8.895e-06	8.893e-06	9.53e-06	8.253e-06	0.0002	4.96e-06	3.82e-06	4.55e-06	3.32e-06	0	2.237e-05	0	0	1.873e-05	0.0002	8.995e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.90584	D	0.982	0.81110	D	0.110018	0.19460	U	0.253980	1	0.81001	D	4.745	0.99558	H	-0.98	0.75789	T	-4.93	0.81755	D	0.769	0.78927	0.854	0.95074	D	0.744	0.91263	D	10	0.93289655	0.92625	D	0.073993	0.71929	D	0.682	0.88348	0.779	0.90388	0.958068906754	0.95761	0.6095610832549095	0.60888	1.41574907995	0.85519	.	.	.	0.42354	0.77426	T	0.24953	0.78557	D	0.203522	0.83321	D	0.995834231376648	0.88157	D	0.776522	0.40874	T	0.8358538	0.86312	0.82271355	0.89713	0.8358538	0.86314	0.82271355	0.89713	-12.687	0.88821	D	.	.	0.915	0.85142	P	.;.	.;.	3.728181	0.53317	23.3	0.99212022874774741	0.55624	0.97438	0.74751	D	AEFBI	0.611562	0.59996	D	0.681619160126379	0.78427	6.869709	0.505157115207975	0.68336	5.206136	0.999999863395181	0.74766	0.676563	0.55306	0	0.593476	0.48661	0	0.673471	0.61138	0	0.600526	0.37237	0	.	.	5.7	3.52	0.39415	4.001000	0.56758	.	.	0.599000	0.40250	0.999000	0.42656	0.000000	0.08366	0.842000	0.39752	0.0:0.9096:0.0:0.0904	13.317	0.59853	819	0.41190	.;Cadherin-like|Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3171.98	43	chr5	141418821	.	C	A	3171.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.799e+00;DP=1296;ExcessHet=0.0000;FS=4.515;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=0.244;SOR=0.637	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	20	0	1	0
chr5	141421624	141421624	A	G	exonic	PCDHGA11	.	nonsynonymous SNV	PCDHGA11:NM_018914:exon1:c.A397G:p.S133G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.02	B	0.021	B	0.193	U	1.000	N	2.205	M	2.08	T	-1.016	T	0.048	T	0.16	-0.036	3.828	3.34	1.021	-0.210	4.907	0.047	0.00447681264647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.737e-06	2.736e-06	2.723e-06	2.751e-06	3.478e-05	6.4e-07	4.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	8.995e-07	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.29288	T	0.203	0.27325	T	0.004	0.18235	B	0.007	0.19346	B	0.193471	0.16784	U	0.306666	1	0.08975	N	2.115	0.58683	M	2.08	0.20255	T	-1.67	0.41239	N	0.21	0.27792	-1.0158	0.25078	T	0.048	0.20474	T	10	0.12542427	0.23835	T	0.004477	0.11000	T	0.047	0.12962	0.304	0.27325	0.365317461125	0.36143	0.07541702892520409	0.07477	0.355846640087	0.37339	.	.	.	0.00761	0.07006	T	-0.238494	0.15542	T	-0.580356	0.14513	T	0.0594987130709268	0.07090	T	0.526647	0.37414	T	0.104547635	0.24716	0.08447413	0.19436	0.104547635	0.24716	0.08447413	0.19436	-6.68	0.52641	T	.	.	0.086	0.10497	B	.;.;.	.;.;.	2.301910	0.29454	18.13	0.89946636107206501	0.19244	0.11077	0.16392	N	AEFDGBHCI	0.131565	0.25055	N	-0.453302702495304	0.23627	1.270185	-0.377922750615157	0.25656	1.412293	0.999972807175733	0.50053	0.652421	0.48094	0	0.748881	0.99253	0	0.64067	0.45733	0	0.604282	0.37693	0	.	.	5.93	3.34	0.37357	-0.547000	0.06145	.	.	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.926000	0.46234	0.5507:0.2832:0.0692:0.0968	4.907	0.13156	819	0.41190	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1179.98	76	chr5	141421624	.	A	G	1179.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.001e+00;DP=1142;ExcessHet=0.0000;FS=1.562;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.44;ReadPosRankSum=-7.690e-01;SOR=0.521	GT:AD:DP:GQ:PL	0/0:75,0:75:99:0,120,1800	20	0	1	0
chr5	141423287	141423289	CCT	-	exonic	PCDHGA11	.	nonframeshift deletion	PCDHGA11:NM_018914:exon1:c.2060_2062del:p.S688del	.	.	9	1477	35	1	0	37	0.0123704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0086	0.00259585	0.0084	0.0020	0.0038	0	0.0097	0.0107	0.0144	0.0096	0.0012679	33	26028	rs554024395	0.0089	0.0089	0.0087	0.0091	0.0114	0.0088	0.0087	0.0097	0.0095	0.0014	0.0034	0.0320	0	0.0092	0.0114	0.0088	0.0112	0.0103	0.0065	0.0065	0.0064	0.0066	0.0104	0.0062	0.0060	0.0083	0.0081	0.0014	0	0.0020	0.0346	0.0004	0.0096	0.0068	0.0089	0.0095	0.0104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4054.94	78	chr5	141423286	.	ACCT	A	4054.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.600e-01;DP=1554;ExcessHet=0.0000;FS=0.468;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.35;ReadPosRankSum=-7.220e-01;SOR=0.641	GT:AD:DP:GQ:PL	0/0:86,0:86:99:0,120,1800	20	0	1	0
chr5	141431463	141431463	C	T	exonic	PCDHGA12	.	nonsynonymous SNV	PCDHGA12:NM_003735:exon1:c.C704T:p.A235V	.	.	395	1093	30	4	0	38	0.0170863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.032	B	0.014	B	.	.	0.584	N	-0.2	N	4.02	T	-0.907	T	0.004	T	0.082	0.506	6.744	-5.55	-1.301	-4.181	9.928	0.014	.	0.0022	0.00399361	0.0051	0.0003	0.0026	0	0.0014	0.0036	0.0033	0.0198	0.0044372	686	154602	rs139195027	0.0036	0.0036	0.0030	0.0042	0.0200	0.0035	0.0035	0.0192	0.0189	0.0005	0.0018	0.0042	2.519e-05	0.0024	0.0054	0.0026	0.0039	0.0200	0.0027	0.0027	0.0024	0.0029	0.0205	0.0024	0.0024	0.0172	0.0160	0.0005	0	0.0033	0.0046	0.0004	0.0015	0.0034	0.0028	0.0047	0.0205	0.283	0.15354	T	0.178	0.29639	T	0.022	0.20242	B	0.01	0.16862	B	.	.	.	.	0.583734	0.31078	N	-0.31	0.03598	N	4.02	0.03178	T	-0.57	0.17210	N	0.042	0.01999	-0.9074	0.47168	T	0.004	0.01295	T	9	0.0067094862	0.00152	T	.	.	.	0.014	0.01968	.	.	0.220303561663	0.21668	0.12593832730350227	0.12519	.	.	.	.	.	0.003892	0.03302	T	-0.723327	0.00026	T	-0.796191	0.02000	T	0.00219904459130167	0.00023	T	0.815218	0.46991	T	0.03382852	0.03680	0.07829049	0.17522	0.03382852	0.03680	0.07829049	0.17522	-4.955	0.36425	T	.	.	0.086	0.10931	B	.;.	.;.	-1.299337	0.00439	0.009	0.94628708314761545	0.25214	0.02661	0.07276	N	AEFDGBHIJ	0.100983	0.20292	N	-1.54332638067758	0.01574	0.06876488	-1.58798993625364	0.01728	0.07858321	0.99999999807393	0.74766	0.580535	0.33130	0	0.296712	0.05252	1	0.576033	0.28219	0	0.372554	0.06265	0	.	.	4.7	-5.55	0.02336	-3.012000	0.00711	.	.	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.839000	0.39591	0.09:0.5164:0.0:0.3936	9.928	0.40672	818	0.41518	.;Cadherin conserved site|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3405.98	34	chr5	141431463	.	C	T	3405.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.177e+00;DP=974;ExcessHet=0.0000;FS=3.634;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.49;ReadPosRankSum=-4.170e-01;SOR=0.775	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr5	141431930	141431930	C	A	exonic	PCDHGA12	.	nonsynonymous SNV	PCDHGA12:NM_003735:exon1:c.C1171A:p.P391T	.	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.992	D	.	.	1.000	D	2.895	M	0.79	T	-0.210	T	0.339	T	0.534	2.942	15.80	3.96	1.240	3.244	14.924	0.360	0.0313314703212	.	.	0.0002	0	8.64e-05	0	0	2.999e-05	0	0.0015	0.000194	30	154602	rs761060241	0.0002	0.0002	0.0001	0.0002	0.0013	0.0001	0.0001	0.0011	0.0011	0	6.709e-05	0	0	0	0.0005	8.454e-05	9.935e-05	0.0013	9.198e-05	9.194e-05	2.569e-05	0.0002	0.0017	5.527e-05	4.364e-05	0.0008	0.0006	4.827e-05	0	6.543e-05	0	0	0	0	4.409e-05	0	0.0017	0.0	0.91255	D	0.001	0.92824	D	0.998	0.73220	D	0.987	0.80445	D	.	.	.	.	1	0.81001	D	2.775	0.80997	M	0.79	0.49068	T	-7.53	0.95131	D	0.664	0.67304	-0.2101	0.77412	T	0.339	0.70510	T	9	0.27943584	0.45516	T	0.031331	0.53437	D	0.360	0.68052	0.814	0.92925	0.794422777162	0.79250	0.13680685460401348	0.13604	.	.	.	.	.	0.123924	0.44861	T	-0.320438	0.06862	T	-0.257691	0.49054	T	0.394380861057874	0.28730	T	0.959004	0.86318	D	0.6788195	0.76905	0.739071	0.84577	0.6788195	0.76907	0.739071	0.84578	-10.574	0.77271	D	.	.	0.370	0.59011	A	.;.	.;.	4.156617	0.62392	24.5	0.99710275408573001	0.81283	0.93780	0.59170	D	AEFDBI	0.460954	0.51092	N	0.561410418673282	0.70781	5.551961	0.449031870741221	0.64656	4.725656	0.999995646182114	0.74766	0.65757	0.49021	0	0.588015	0.36545	0	0.576033	0.28219	0	0.604282	0.37693	0	.	.	4.84	3.96	0.45097	3.364000	0.52052	.	.	0.599000	0.40250	0.623000	0.27939	1.000000	0.68203	0.997000	0.79791	0.0:0.856:0.144:0.0	14.924	0.70505	818	0.41518	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2437.98	34	chr5	141431930	.	C	A	2437.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.265;DP=938;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.57;ReadPosRankSum=-4.970e-01;SOR=0.712	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr5	141432598	141432598	G	C	exonic	PCDHGA12	.	nonsynonymous SNV	PCDHGA12:NM_003735:exon1:c.G1839C:p.E613D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.325	B	0.246	B	.	.	1.000	N	-0.055	N	0.57	T	-1.000	T	0.073	T	0.044	0.054	4.295	2.96	1.186	0.564	5.745	0.089	0.0136008971102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.363	0.11807	T	0.552	0.09361	T	0.057	0.33132	B	0.065	0.38861	B	.	.	.	.	1	0.81001	D	-0.315	0.03579	N	0.57	0.54347	T	-2.62	0.56301	D	0.089	0.06720	-1.0004	0.29803	T	0.073	0.29419	T	9	0.06712723	0.09308	T	0.013601	0.33126	T	0.089	0.25827	0.51	0.60693	0.503559190036	0.49993	0.29795961743295085	0.29708	.	.	.	.	.	0.059824	0.31219	T	-0.288976	0.09739	T	-0.652871	0.08754	T	0.0746343158082267	0.09286	T	0.814918	0.46941	T	0.14320628	0.32923	0.106493875	0.25619	0.14320628	0.32923	0.106493875	0.25619	-6.333	0.50633	T	.	.	0.146	0.32275	B	.;.	.;.	1.581755	0.20241	14.66	0.90173180283377885	0.19450	0.89812	0.50522	D	AEFBHI	0.482943	0.52359	N	-0.484899516627906	0.22575	1.206398	-0.321063273877488	0.27418	1.521326	0.947301661752243	0.27746	0.676563	0.55306	0	0.573888	0.26702	0	0.578056	0.29568	0	0.600526	0.37237	0	.	.	4.89	2.96	0.33383	-0.003000	0.12836	.	.	-0.212000	0.08331	0.174000	0.23986	0.000000	0.08366	0.416000	0.27139	0.0774:0.1382:0.6415:0.1429	5.745	0.17386	813	0.42397	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1769.98	34	chr5	141432598	.	G	C	1769.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.729e+00;DP=1064;ExcessHet=0.0000;FS=4.796;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.18;MQRankSum=1.06;QD=15.95;ReadPosRankSum=0.158;SOR=0.358	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr5	141476855	141476855	T	C	exonic	PCDHGC3	.	nonsynonymous SNV	PCDHGC3:NM_002588:exon1:c.T739C:p.S247P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.552	P	0.157	B	.	.	1.000	N	0.195	N	0.13	T	-1.038	T	0.083	T	0.903	1.093	9.459	5.53	2.324	0.001	7.754	0.294	.	0.0015	0.00279553	0.0005	0.0057	0.0003	0	0	1.533e-05	0	0	0.0005239	81	154602	rs149491772	0.0002	0.0002	0.0002	0.0002	0.0060	0.0002	0.0001	0.0053	0.0051	0.0060	0.0003	0	0	0	0.0005	6.295e-06	0.0003	3.478e-05	0.0018	0.0018	0.0017	0.0018	0.0063	0.0016	0.0015	0.0057	0.0054	0.0063	0	0.0003	0	0	0	0	1.47e-05	0.0019	0	0.658	0.04728	T	0.424	0.13953	T	0.552	0.38158	P	0.157	0.34536	B	.	.	.	.	1	0.81001	D	0.5	0.13406	N	0.13	0.60973	T	0.55	0.02721	N	0.193	0.21188	-1.0380	0.17924	T	0.083	0.32527	T	9	0.004603654	0.00096	T	.	.	.	0.294	0.61388	.	.	0.8676364943	0.86635	0.5245559578135927	0.52379	0.875006280955	0.69535	.	.	.	0.028641	0.21682	T	-0.106712	0.35311	T	0.0773863	0.75403	D	0.0114167631788663	0.00170	T	0.726327	0.39447	T	0.15148138	0.34434	0.19018368	0.42407	0.15148138	0.34433	0.19018368	0.42407	-5.036	0.37228	T	.	.	0.110	0.29144	B	.;.;.	.;.;.	3.604358	0.50925	23.0	0.98674323976769862	0.44525	0.32043	0.24488	N	ALL	0.508244	0.53821	D	-0.426975314945102	0.24528	1.324991	-0.261993254611387	0.29361	1.644345	0.999999615934042	0.74766	0.72623	0.87236	0	0.748881	0.99253	0	0.594344	0.31042	0	0.71	0.69187	0	.	.	5.53	5.53	0.82530	0.216000	0.17370	.	.	0.665000	0.62972	0.039000	0.20931	1.000000	0.68203	0.999000	0.91618	0.1373:0.0:0.1433:0.7194	7.754	0.28076	770	0.49152	.;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2910.98	34	chr5	141476855	.	T	C	2910.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.617;DP=1242;ExcessHet=0.0000;FS=2.293;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=1.70;SOR=0.555	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1009	20	0	1	0
chr5	141487556	141487556	A	G	exonic	PCDHGC4	.	nonsynonymous SNV	PCDHGC4:NM_018928:exon1:c.A2383G:p.M795V	.	.	432	1083	6	1	0	8	0.00367985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.001	B	0.004	B	.	.	1.000	N	0.6	N	-3.23	D	-0.469	T	0.542	D	0.273	-0.519	1.630	1.67	0.858	0.327	3.069	0.197	.	0.0008	0.00119808	0.0029	9.612e-05	0.0002	0.0002	0.0247	0.0025	0.0044	0.0012	0.0024709	382	154602	rs151293422	0.0016	0.0016	0.0016	0.0017	0.0012	0.0016	0.0016	0.0010	0.0009	5.974e-05	0.0003	0.0017	7.557e-05	0.0195	0.0007	0.0010	0.0014	0.0012	0.0028	0.0028	0.0016	0.0041	0.0019	0.0026	0.0025	0.0016	0.0015	0.0001	0	0.0010	0.0012	0	0.0255	0	0.0019	0.0009	0.0006	0.515	0.07378	T	0.205	0.27145	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.81001	D	0.345	0.11182	N	-3.23	0.93414	D	-0.36	0.13035	N	0.24	0.27077	-0.4689	0.69763	T	0.542	0.83127	D	9	0.0037896335	0.00071	T	.	.	.	0.197	0.47942	.	.	0.628190668029	0.62515	0.2226084415945503	0.22175	0.427794956956	0.43115	.	.	.	0.003622	0.03030	T	-0.280264	0.10638	T	-0.179347	0.56583	T	0.0101184897906108	0.00136	T	0.546045	0.18695	T	0.047300506	0.08062	0.08140843	0.18497	0.047300506	0.08061	0.08140843	0.18497	-2.247	0.04511	T	.	.	0.054	0.00347	B	.;.	.;.	1.764184	0.22436	15.62	0.71768740151062049	0.09742	0.62681	0.31855	D	AEFGBI	0.231884	0.35504	N	-0.489400432714019	0.22428	1.197478	-0.334142019915442	0.27004	1.495449	0.999927406468425	0.46280	0.623552	0.39893	0	0.547309	0.14657	0	0.667671	0.60360	0	0.542086	0.14980	0	.	.	5.43	1.67	0.23149	1.412000	0.34322	.	.	0.691000	0.84096	1.000000	0.71638	0.998000	0.33993	0.997000	0.79791	0.6109:0.126:0.1512:0.1118	3.069	0.05850	744	0.52588	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2105.98	34	chr5	141487556	.	A	G	2105.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=1010;ExcessHet=0.0000;FS=0.587;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.41;ReadPosRankSum=0.753;SOR=0.625	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1187	20	0	1	0
chr5	141510985	141510985	G	A	exonic	PCDHGA1;PCDHGA10;PCDHGA11;PCDHGA12;PCDHGA2;PCDHGA3;PCDHGA4;PCDHGA5;PCDHGA6;PCDHGA7;PCDHGA8;PCDHGA9;PCDHGB1;PCDHGB2;PCDHGB3;PCDHGB4;PCDHGB5;PCDHGB6;PCDHGB7;PCDHGC3;PCDHGC4;PCDHGC5	.	nonsynonymous SNV	PCDHGC3:NM_002588:exon4:c.G2617A:p.G873S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	1.79	L	-3.77	D	1.023	D	0.906	D	0.823	5.005	29.4	4.9	2.540	8.889	18.260	0.737	0.518339274741	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1278517639	1.3e-05	1.3e-05	1.225e-05	1.375e-05	2.519e-05	8.31e-06	6.7e-06	8.1e-06	6.42e-06	0	0	0	2.519e-05	0	0	1.349e-05	3.311e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.92824	D	1.0	0.90584	D	0.998	0.97372	D	0.000185	0.48115	D	0.000000	0.989811	0.54805	D	2.455	0.71248	M	-3.77	0.95595	D	-1.26	0.66665	N	0.431	0.88027	1.023	0.97585	D	0.906	0.96869	D	10	0.4665736	0.59607	T	0.518339	0.95408	D	0.737	0.90852	.	.	0.97481234908	0.97453	0.40812239849666576	0.64827	0.982359219419	0.87527	0.855685651302	0.90469	D	0.116868	0.57851	T	0.426878	0.91375	D	0.375404	0.91268	D	0.995553910732269	0.87638	D	0.974903	0.93146	D	0.35737276	0.76151	0.43573654	0.83199	0.35737276	0.76152	0.43573654	0.83200	-9.297	0.74139	D	.	.	0.236	0.61234	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.418655	0.90668	31	0.99843061548143675	0.92316	0.94230	0.60510	D	AEFDGBCI	0.962014	0.98346	D	0.757660771975103	0.83404	8.008407	0.737951755214267	0.85253	8.526	1.0	0.98316	0.732398	0.92422	0	0.672317	0.65289	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.9	4.9	0.63643	8.993000	0.93082	.	.	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.0:1.0:0.0	18.260	0.89971	700	0.57880	Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;.;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	920.98	36	chr5	141510985	.	G	A	920.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=799;ExcessHet=0.0000;FS=0.791;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.23;ReadPosRankSum=2.34;SOR=0.808	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1182	20	0	1	0
chr5	141945772	141945772	G	A	exonic	PCDH12	.	nonsynonymous SNV	PCDH12:NM_016580:exon4:c.C3164T:p.P1055L,	.	.	.	.	.	.	.	.	.	.	.	1577304	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.949	D	0.000	D	1.000	D	2.045	M	0.4	T	-0.465	T	0.318	T	0.743	4.834	27.5	5.46	2.572	8.512	16.787	0.300	0.0847171070025	0.0002	.	7.635e-05	0.0003	0	0	0	9.292e-05	0	0	6.47e-05	10	154602	rs140094371	1.848e-05	1.915e-05	2.315e-05	1.376e-05	0.0002	1.265e-05	1.085e-05	9.751e-05	6.951e-05	0.0002	0	0	2.519e-05	1.884e-05	0	1.349e-05	1.657e-05	2.319e-05	1.314e-05	1.313e-05	0	2.689e-05	4.823e-05	2.18e-06	8.2e-07	7.99e-06	2.99e-06	4.823e-05	0	0	0	0	0	0	0	0	0	0.012	0.54683	D	0.0	0.92824	D	1.0	0.90584	D	0.949	0.68658	D	0.000003	0.62929	D	0.061538	1	0.81001	D	2.545	0.74286	M	0.4	0.57261	T	-2.81	0.59389	D	0.463	0.49965	-0.4654	0.69885	T	0.318	0.68709	T	10	0.49248406	0.61074	T	0.084717	0.74385	D	0.300	0.62068	.	.	0.910399253702	0.90949	0.4272998446930275	0.42646	0.736878551072	0.63027	0.635178923607	0.57879	T	0.168293	0.51524	T	0.0133207	0.53478	T	0.0873345	0.76068	D	0.794986426830292	0.46017	D	0.839416	0.51368	T	0.30274686	0.53149	0.36051515	0.61492	0.30274686	0.53149	0.36051515	0.61492	-3.254	0.13151	T	.	.	0.276	0.50988	B	.	.	4.270304	0.64969	24.8	0.99927254214177563	0.99163	0.96379	0.68851	D	AEFDBCI	0.906866	0.86016	D	0.796286935436447	0.85873	8.708077	0.780320748771311	0.88393	9.565328	0.999999999999997	0.74766	0.0	0.00013	3	0.514364	0.08380	0	0.286618	0.05420	3	0.463824	0.07026	1	.	.	5.46	5.46	0.80021	5.690000	0.67904	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.100000	0.18284	0.0:0.0:1.0:0.0	16.787	0.85440	844	0.36711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	775.98	38	chr5	141945772	.	G	A	775.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.571;DP=836;ExcessHet=0.0000;FS=2.300;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=-9.170e-01;SOR=0.366	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1620	20	0	1	0
chr5	141951533	141951533	G	A	exonic	PCDH12	.	nonsynonymous SNV	PCDH12:NM_016580:exon2:c.C2938T:p.H980Y,	.	.	424	1097	1	0	0	1	0.000455581	.	.	709687	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.2	T	0.817	P	0.297	B	0.000	D	0.992	D	1.935	M	0.65	T	-1.042	T	0.051	T	0.221	3.520	17.98	6.08	2.894	5.297	11.423	0.204	.	0.0080	0.00878594	0.0022	0.0252	0.0007	0	0	0	0.0022	6.056e-05	0.0021733	336	154602	rs115735066	0.0007	0.0007	0.0009	0.0006	0.0272	0.0007	0.0007	0.0257	0.0251	0.0272	0.0009	0	0	0	0.0005	1.349e-05	0.0017	5.797e-05	0.0066	0.0067	0.0069	0.0064	0.0232	0.0063	0.0062	0.0220	0.0215	0.0232	0	0.0019	0	0	0	0.0034	2.939e-05	0.0061	0.0006	0.044	0.41096	D	0.16	0.31427	T	0.817	0.45613	P	0.297	0.40924	B	0.000003	0.62929	D	0.107907	0.992297	0.41606	D	2.38	0.68558	M	0.65	0.52642	T	0.6	0.02518	N	0.266	0.30118	-1.0424	0.16592	T	0.051	0.21533	T	10	0.0053402185	0.00117	T	.	.	.	0.204	0.49076	.	.	0.503930629158	0.50032	0.2525412034171004	0.25168	0.31335243846	0.33626	0.558099746704	0.46999	T	0.018796	0.15087	T	-0.470926	0.00839	T	-0.428957	0.30052	T	0.0265397764859839	0.01480	T	0.737926	0.35508	T	0.092234604	0.21633	0.16213822	0.37678	0.092234604	0.21633	0.16213822	0.37677	-3.713	0.19510	T	.	.	0.154	0.34094	B	.	.	3.649277	0.51779	23.1	0.99616307619226552	0.75112	0.75311	0.36868	D	ALL	0.544581	0.55945	D	0.508953476249754	0.67618	5.105639	0.59960088179922	0.74911	6.218435	0.999999999999983	0.74766	0.50284	0.20314	0	0.596394	0.48810	0	0.440796	0.06475	0	0.654926	0.60358	0	.	.	6.08	6.08	0.98982	5.351000	0.65790	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0811:0.0:0.9189:0.0	11.423	0.49234	858	0.34001	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	779.98	36	chr5	141951533	.	G	A	779.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.193;DP=798;ExcessHet=0.0000;FS=1.694;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.88;ReadPosRankSum=0.090;SOR=0.970	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1151	20	0	1	0
chr5	141956015	141956015	A	G	exonic	PCDH12	.	nonsynonymous SNV	PCDH12:NM_016580:exon1:c.T1837C:p.S613P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.0	B	0.003	B	0.054	N	1.000	N	-0.115	N	0.62	T	-1.037	T	0.051	T	0.127	-0.181	3.117	1.8	0.166	.	6.823	0.016	0.00369999529651	.	.	3.296e-05	0	0	0	0	5.996e-05	0	0	2.59e-05	4	154602	rs773781108	1.3e-05	1.3e-05	1.089e-05	1.513e-05	0.0002	8.31e-06	6.7e-06	8.52e-06	6.89e-06	0	0	0	0	0	0.0002	1.439e-05	3.311e-05	0	1.315e-05	1.313e-05	1.285e-05	1.347e-05	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.27	0.16038	T	0.202	0.27414	T	0.0	0.02946	B	0.003	0.08700	B	0.053977	0.22763	N	0.472775	1	0.08975	N	0.49	0.13296	N	0.62	0.53302	T	-0.12	0.08809	N	0.041	0.01421	-1.0369	0.18264	T	0.051	0.21883	T	10	0.049031913	0.04434	T	0.004	0.08558	T	0.016	0.02506	0.389	0.41115	0.378847511475	0.37492	0.6517313784560373	0.65109	0.232908770119	0.25826	0.287970304489	0.08627	T	0.02852	0.20643	T	-0.356491	0.04332	T	-0.593485	0.13365	T	0.029530595061371	0.01918	T	0.529847	0.17555	T	0.09499116	0.22347	0.124194965	0.29938	0.09499116	0.22347	0.124194965	0.29937	-3.628	0.18263	T	.	.	0.065	0.02012	B	.	.	1.137887	0.15248	11.71	0.85588789633142937	0.15987	0.02269	0.06554	N	AEFDBI	0.101214	0.20333	N	-0.903934575833317	0.10749	0.5152235	-0.806753438877462	0.14333	0.7483186	0.99972146052129	0.42220	0.615465	0.37627	0	0.547309	0.14657	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.38	1.8	0.24069	0.071000	0.14461	.	.	0.756000	0.94297	0.002000	0.15269	0.962000	0.29361	0.977000	0.56843	0.7501:0.0:0.2499:0.0	6.823	0.23052	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1995.98	111	chr5	141956015	.	A	G	1995.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.407e+00;DP=2720;ExcessHet=0.0000;FS=0.571;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=-1.201e+00;SOR=0.748	GT:AD:DP:GQ:PL	0/0:151,0:151:99:0,120,1800	20	0	1	0
chr5	141957293	141957293	C	T	exonic	PCDH12	.	nonsynonymous SNV	PCDH12:NM_016580:exon1:c.G559A:p.G187S,	.	.	427	1094	1	0	0	1	0.00045683	.	.	709691	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.6	T	0.991	D	0.876	P	0.000	D	0.797	D	1.24	L	2.13	T	-1.085	T	0.025	T	0.281	1.304	10.27	4.98	2.605	0.429	9.213	0.126	.	0.0080	0.00838658	0.0022	0.025	0.0007	0	0	0	0.0022	6.26e-05	0.0021474	332	154602	rs140883612	0.0007	0.0007	0.0008	0.0006	0.0271	0.0007	0.0007	0.0256	0.0250	0.0271	0.0009	0	0	0	0.0005	1.349e-05	0.0017	5.806e-05	0.0066	0.0066	0.0068	0.0064	0.0230	0.0063	0.0061	0.0218	0.0213	0.0230	0	0.0019	0	0	0	0.0034	4.41e-05	0.0061	0.0006	0.133	0.26409	T	0.019	0.59159	D	0.991	0.64070	D	0.876	0.62173	P	0.000076	0.52346	D	0.127172	0.797432	0.34466	D	1.815	0.47718	L	2.13	0.19588	T	-0.83	0.22727	N	0.098	0.07949	-1.0848	0.06444	T	0.025	0.10777	T	10	0.0051528513	0.00112	T	.	.	.	0.126	0.34673	.	.	0.253726318573	0.24972	0.49192788781278046	0.49113	0.5713921237	0.53264	0.441338300705	0.30760	T	0.061612	0.31699	T	-0.544897	0.00313	T	-0.535886	0.18703	T	0.0111614599710575	0.00163	T	0.738626	0.35686	T	0.07479807	0.16809	0.092463315	0.21791	0.07479807	0.16809	0.092463315	0.21790	-2.569	0.06271	T	.	.	0.132	0.28521	B	.	.	3.102171	0.41810	21.4	0.9917075080154012	0.54383	0.26050	0.22880	N	AEFDGBI	0.149849	0.27402	N	0.102486158055573	0.46578	2.896079	0.0568482951372234	0.42404	2.564202	0.999998496345684	0.74766	0.608746	0.35421	0	0.588066	0.40923	0	0.602189	0.34648	0	0.605231	0.38476	0	.	.	4.98	4.98	0.65679	0.202000	0.17094	.	.	0.599000	0.40250	0.001000	0.13787	1.000000	0.68203	0.439000	0.27649	0.0:0.9043:0.0:0.0957	9.213	0.36490	876	0.30350	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2886.98	128	chr5	141957293	.	C	T	2886.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.78;DP=2826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.88;ReadPosRankSum=-1.782e+00;SOR=0.696	GT:AD:DP:GQ:PL	0/0:156,0:156:99:0,120,1800	20	0	1	0
chr5	142903567	142903567	T	C	exonic	ARHGAP26	.	nonsynonymous SNV	ARHGAP26:NM_001135608:exon8:c.T730C:p.S244P	Leukemia, juvenile myelomonocytic, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.998	D	0.000	D	1.000	D	2.39	M	3.64	T	-1.177	T	0.055	T	0.893	4.693	26.0	5.62	2.136	7.698	15.832	0.376	0.021308038366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.48186	D	0.055	0.46862	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.365	0.68172	M	3.64	0.04309	T	-2.59	0.56787	D	0.766	0.77226	-1.1768	0.00419	T	0.055	0.23224	T	10	0.56307894	0.64897	D	0.021308	0.44059	T	0.376	0.69443	0.287	0.24601	0.689142853871	0.68647	0.8217060587566524	0.82127	0.921860370526	0.71489	0.809007108212	0.83340	D	0.276539	0.64913	T	0.190456	0.73006	D	0.0358006	0.72654	D	0.904159963130951	0.55754	D	0.864214	0.56163	D	0.79300255	0.83461	0.8051438	0.88593	0.79300255	0.83463	0.8051438	0.88593	-11.87	0.84468	D	.	.	0.861	0.80349	P	.;.;.;.;.	.;.;.;.;.	5.122988	0.85695	28.7	0.99890496872429047	0.96436	0.98339	0.81784	D	AEFBI	0.934208	0.92724	D	0.7846617391585	0.85137	8.487303	0.767949232188809	0.87493	9.240501	0.999999999997967	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	7.674000	0.83146	7.889000	0.72943	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.832	0.78534	855	0.34697	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1674.98	42	chr5	142903567	.	T	C	1674.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.430;DP=859;ExcessHet=0.0000;FS=1.316;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=0.700;SOR=0.854	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1215	20	0	1	0
chr5	145937936	145937936	A	C	exonic	SH3RF2	.	nonsynonymous SNV	SH3RF2:NM_152550:exon2:c.A8C:p.D3A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.941	D	0.000	D	1.000	D	-0.255	N	1.96	T	-0.947	T	0.062	T	0.532	3.856	19.59	6.07	2.326	9.339	16.629	0.295	0.0285529735341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.019	0.59159	D	0.999	0.77913	D	0.941	0.67658	D	0.000010	0.62929	D	0.067316	1	0.81001	D	-0.125	0.04555	N	1.96	0.22270	T	-4.63	0.79229	D	0.547	0.59308	-0.9467	0.41532	T	0.062	0.25815	T	10	0.5868644	0.66160	D	0.028553	0.51215	D	0.295	0.61502	0.226	0.15109	0.622533131713	0.61946	0.4741956979123084	0.47338	0.624079585414	0.56630	0.444784849882	0.31231	T	0.280074	0.65277	T	-0.0519528	0.44151	T	-0.312403	0.43400	T	0.989774942398071	0.79995	D	0.243476	0.03544	T	0.52114946	0.68325	0.40648916	0.65020	0.52114946	0.68326	0.40648916	0.65020	-11.528	0.82476	D	.	.	0.464	0.64090	A	.;.	.;.	4.934651	0.81390	27.5	0.99047170409028007	0.51162	0.96689	0.70415	D	AEFDGBCI	0.917492	0.88519	D	0.592603034587598	0.72711	5.849061	0.684340767918684	0.81191	7.469054	1.0	0.98316	0.652421	0.48094	0	0.563428	0.19063	0	0.64067	0.45733	0	0.616125	0.45549	0	.	.	6.07	6.07	0.98675	9.325000	0.96006	11.259000	0.91010	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	1.0:0.0:0.0:0.0	16.629	0.84866	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2375.08	33	chr5	145937936	.	A	C	2375.08	.	AC=2;AF=0.048;AN=42;DP=757;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.99;SOR=1.148	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	1	0	0
chr5	146000178	146000178	A	G	exonic	SH3RF2	.	nonsynonymous SNV	SH3RF2:NM_152550:exon3:c.A499G:p.I167V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.004	B	0.152	N	0.882	N	-0.195	N	3.35	T	-0.913	T	0.007	T	0.123	-1.187	0.079	-1.46	-0.222	0.114	9.102	0.040	0.00619057959863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.828	0.02899	T	0.996	0.02331	T	0.001	0.07471	B	0.004	0.10090	B	0.151732	0.17945	N	0.602245	0.881981	0.28033	N	-0.075	0.04822	N	3.35	0.05989	T	-0.38	0.13418	N	0.221	0.25377	-0.9128	0.46505	T	0.007	0.02282	T	10	0.08809829	0.15136	T	0.006191	0.16229	T	0.040	0.10527	0.447	0.50629	0.119812018005	0.11559	0.22573118891151897	0.22488	0.102646631919	0.11614	0.366899818182	0.20386	T	0.007703	0.07089	T	-0.34353	0.05148	T	-0.731233	0.04272	T	0.0383459664881229	0.03393	T	0.784922	0.42251	T	0.032080207	0.03167	0.031015221	0.01634	0.032080207	0.03167	0.031015221	0.01634	-2.973	0.09893	T	.	.	0.076	0.07602	B	.;.	.;.	0.442643	0.08128	4.858	0.45178844068321977	0.03527	0.62088	0.31676	D	AEFBI	0.120747	0.23508	N	-1.22830409015924	0.04593	0.2076501	-1.06317563615386	0.08434	0.4147031	0.132864112420316	0.17125	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.17	-1.46	0.08338	0.327000	0.19408	0.341000	0.17381	-0.562000	0.04833	0.883000	0.31049	0.365000	0.24540	0.296000	0.24405	0.4153:0.125:0.4596:0.0	9.102	0.35837	770	0.49152	SH3 domain|SH3 domain|SH3 domain|E3 ubiquitin-protein ligase SH3RF2, first SH3 domain;SH3 domain|SH3 domain|SH3 domain|E3 ubiquitin-protein ligase SH3RF2, first SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1009.98	113	chr5	146000178	.	A	G	1009.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.358e+00;DP=815;ExcessHet=0.0000;FS=1.545;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.94;ReadPosRankSum=-1.530e-01;SOR=0.903	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1112	20	0	1	0
chr5	146130068	146130068	C	T	exonic	LARS1	.	nonsynonymous SNV	LARS1:NM_001317964:exon24:c.G2440A:p.A814T	.	.	436	1080	6	0	0	6	0.00277008	.	.	141794	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.27	T	0.067	B	0.077	B	0.000	N	1.000	D	1.655	L	2.28	T	-1.095	T	0.028	T	0.326	1.805	11.99	3.65	1.322	3.207	9.367	0.044	.	0.0043	0.00359425	0.0046	0.0013	0.0016	0	0.0153	0.0047	0.0044	0.0066	0.0041655	644	154602	rs112912805	0.0051	0.0051	0.0051	0.0052	0.0062	0.0050	0.0050	0.0058	0.0056	0.0006	0.0021	0.0005	7.56e-05	0.0140	0.0003	0.0052	0.0046	0.0062	0.0038	0.0038	0.0035	0.0041	0.0051	0.0036	0.0035	0.0047	0.0045	0.0009	0	0.0038	0	0	0.0100	0	0.0051	0.0038	0.0048	0.553	0.06523	T	0.421	0.24987	T	0.013	0.16609	B	0.013	0.16460	B	0.000102	0.50451	N	0.205916	0.999992	0.58761	D	1.88	0.49984	L	2.28	0.17271	T	-1.29	0.32387	N	0.553	0.58287	-1.0947	0.04795	T	0.028	0.12058	T	10	0.016147673	0.00340	T	.	.	.	0.044	0.11924	.	.	0.293502639404	0.28954	0.7169988933321284	0.71642	0.224889706269	0.25025	0.525510668755	0.42402	T	0.021387	0.16665	T	-0.503752	0.00545	T	-0.493213	0.23055	T	0.0146584479407103	0.00304	T	0.875312	0.58680	D	0.12224457	0.28730	0.12464879	0.30042	0.15726492	0.35446	0.13043901	0.31341	-8.659	0.72778	D	0.17385973862424722	0.22048	0.092	0.20586	B	.;.;.	.;.;.	3.276812	0.44877	22.0	0.94236199971402324	0.24496	0.94495	0.61350	D	AEFGBI	0.278999	0.39315	N	-0.116112682491289	0.36691	2.124243	0.0300973528348812	0.41119	2.465118	0.999350016013506	0.39259	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.56	3.65	0.40985	3.264000	0.51256	0.604000	0.19959	0.599000	0.40250	1.000000	0.71638	0.993000	0.31925	0.996000	0.76049	0.1442:0.7798:0.0:0.076	9.367	0.37390	830	0.39242	Methionyl/Valyl/Leucyl/Isoleucyl-tRNA synthetase, anticodon-binding;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1253.98	35	chr5	146130068	.	C	T	1253.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.301e+00;DP=867;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.00;ReadPosRankSum=-1.137e+00;SOR=0.756	GT:AD:DP:GQ:PL	0/1:56,58:114:99:1268,0,1302	20	0	1	0
chr5	146157453	146157453	A	G	exonic	LARS1	.	nonsynonymous SNV	LARS1:NM_001317964:exon9:c.T877C:p.F293L	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.998	D	0.981	D	0.000	D	1.000	D	0.58	N	1.39	T	-1.044	T	0.116	T	0.878	2.860	15.53	5.25	2.123	9.274	15.463	0.391	0.0315004424248	.	0.000199681	9.061e-05	0	0	0	0	5.994e-05	0	0.0004	7.76e-05	12	154602	rs528053176	3.968e-05	3.967e-05	2.859e-05	5.088e-05	0.0003	3.113e-05	2.846e-05	0.0002	0.0002	0	2.236e-05	0	0	0	0.0002	2.338e-05	3.312e-05	0.0003	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.421	0.09866	T	0.917	0.02899	T	0.031	0.20130	B	0.048	0.24975	B	0.000016	0.62929	D	0.124181	1	0.81001	D	0.655	0.16177	N	1.39	0.33842	T	-3.27	0.65512	D	0.824	0.81957	-1.0435	0.16265	T	0.116	0.40964	T	10	0.37803668	0.53982	T	0.032	0.53565	D	0.391	0.70684	0.404	0.43573	0.466655310336	0.46291	0.7751936049078645	0.77469	0.262911644521	0.28850	0.793779551983	0.81017	T	0.02749	0.20123	T	-0.0204493	0.48789	T	0.0373971	0.72759	D	0.19304414144964	0.20022	T	0.874313	0.66162	D	0.4502852	0.64059	0.28130436	0.54111	0.4502852	0.64059	0.28130436	0.54110	-1.036	0.01040	T	0.1399198366584474	0.15613	0.759	0.77926	P	.;.	.;.	3.479763	0.48587	22.6	0.96976193323515025	0.31839	0.99444	0.96106	D	AEFGBI	0.880671	0.80749	D	0.106783784379432	0.46780	2.913102	0.278059695452957	0.54261	3.59161	0.999999993198074	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	9.260000	0.94752	11.025000	0.84998	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.463	0.75110	812	0.42537	Aminoacyl-tRNA synthetase, class Ia;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1501.98	35	chr5	146157453	.	A	G	1501.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.140e+00;DP=810;ExcessHet=0.0000;FS=2.589;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.29;ReadPosRankSum=0.647;SOR=0.455	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	20	0	1	0
chr5	146171959	146171959	T	C	exonic	LARS1	.	nonsynonymous SNV	LARS1:NM_001317965:exon3:c.A83G:p.K28R	.	.	437	1074	9	2	0	13	0.00601573	.	.	141780	not_provided|not_specified|Infantile_liver_failure_syndrome_1	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0024568,MedGen:C3809522,OMIM:615438,Orphanet:370088	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.788	P	0.335	B	0.000	D	1.000	D	1.97	M	-1.05	T	-0.346	T	0.322	T	0.178	3.093	16.33	5.54	2.101	4.697	15.680	0.349	.	0.0037	0.00299521	0.0050	0.0012	0.0027	0.0001	0.0015	0.0055	0.0066	0.0111	0.0050517	781	154602	rs112954500	0.0057	0.0057	0.0055	0.0059	0.0103	0.0056	0.0056	0.0097	0.0095	0.0007	0.0031	0.0019	2.522e-05	0.0020	0.0061	0.0061	0.0060	0.0103	0.0038	0.0038	0.0041	0.0036	0.0075	0.0036	0.0035	0.0055	0.0053	0.0011	0	0.0033	0.0035	0	0.0025	0.0034	0.0060	0.0033	0.0075	0.175	0.22486	T	0.115	0.36901	T	0.004	0.12183	B	0.09	0.29851	B	0.000000	0.84330	D	0.045928	0.999934	0.81001	D	1.87	0.49600	L	-1.05	0.76690	T	-2.2	0.49519	N	0.582	0.72925	-0.3456	0.73681	T	0.322	0.69064	T	10	0.010404259	0.00232	T	.	.	.	0.349	0.67049	.	.	0.714101545948	0.71159	0.6134425457156343	0.61276	0.185243997901	0.20827	0.564296662807	0.47874	T	0.175937	0.52570	T	-0.369996	0.03594	T	-0.296431	0.45101	T	0.0155940450330543	0.00356	T	0.79572	0.43953	T	0.22997892	0.45745	0.19366084	0.42948	0.26109782	0.49167	0.18891732	0.42207	-9.095	0.68305	D	0.2299780390205727	0.31114	0.071	0.04889	B	.;.;.	.;.;.	3.251490	0.44425	21.9	0.99693564151083824	0.80112	0.98629	0.84891	D	AEFBI	0.457668	0.50901	N	0.21524862825499	0.51938	3.371338	0.32198833956274	0.56833	3.847441	0.999738692345606	0.42341	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	4.678000	0.61331	7.691000	0.65788	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	15.680	0.77120	855	0.34697	Aminoacyl-tRNA synthetase, class Ia;.;Aminoacyl-tRNA synthetase, class Ia	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	633.98	33	chr5	146171959	.	T	C	633.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.030e-01;DP=748;ExcessHet=0.0000;FS=2.386;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.96;ReadPosRankSum=0.347;SOR=0.400	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1082	20	0	1	0
chr5	146258478	146258478	C	T	exonic	RBM27	.	nonsynonymous SNV	RBM27:NM_018989:exon11:c.C1624T:p.P542S,	.	.	431	1086	4	1	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	1.0	D	0.992	D	0.000	D	1.000	D	0.345	N	0.77	T	-0.885	T	0.178	T	0.65	4.545	24.6	5.75	2.706	3.737	19.944	0.228	0.0112348815519	0.0009	0.000199681	0.0019	0	0.0012	0	0.0054	0.0019	0	0.0030	0.0015912	246	154602	rs200965300	0.0011	0.0012	0.0010	0.0013	0.0026	0.0011	0.0011	0.0023	0.0022	6.161e-05	0.0008	0.0067	0	0.0046	0.0023	0.0008	0.0016	0.0026	0.0013	0.0013	0.0011	0.0015	0.0025	0.0011	0.0011	0.0014	0.0011	2.407e-05	0	0.0003	0.0081	0	0.0044	0.0068	0.0014	0.0014	0.0025	0.097	0.30943	T	0.225	0.25514	T	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.999907	0.50806	D	0.55	0.14455	N	0.77	0.49642	T	-2.24	0.50175	N	0.328	0.36884	-0.8852	0.49340	T	0.178	0.52427	T	10	0.0077544153	0.00176	T	0.011235	0.28641	T	0.228	0.52768	.	.	0.451786746415	0.44804	0.4722552076750492	0.47144	0.380928221165	0.39451	0.591808080673	0.51749	T	0.074913	0.35052	T	-0.307567	0.07964	T	-0.220433	0.52696	T	0.0666651896349265	0.08175	T	0.90181	0.65830	D	0.13858896	0.32047	0.24606408	0.50108	0.13858896	0.32046	0.24606408	0.50107	-2.85	0.08653	T	.	.	0.092	0.32348	B	.;.	.;.	4.000541	0.58941	24.0	0.99903786774541659	0.97502	0.96222	0.68097	D	AEFBI	0.436732	0.49683	N	0.465249215894373	0.65074	4.776878	0.534648631365012	0.70336	5.490334	0.999980761752705	0.51787	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.75	5.75	0.90390	3.872000	0.55798	7.709000	0.66702	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.944	0.97176	729	0.54495	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	804.98	34	chr5	146258478	.	C	T	804.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.602;DP=775;ExcessHet=0.0000;FS=0.802;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.04;ReadPosRankSum=-1.710e-01;SOR=0.800	GT:AD:DP:GQ:PL	0/1:53,36:89:99:819,0,1286	20	0	1	0
chr5	146260794	146260794	T	C	exonic	RBM27	.	nonsynonymous SNV	RBM27:NM_018989:exon12:c.T1789C:p.Y597H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.998	D	0.994	D	0.000	D	1.000	D	1.355	L	0.89	T	-0.925	T	0.192	T	0.716	4.730	26.4	6.17	2.371	7.531	16.822	0.301	0.0112300622531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.146	0.32891	T	0.998	0.73220	D	0.991	0.79672	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.25	0.63811	M	0.89	0.45636	T	-1.87	0.43717	N	0.592	0.64989	-0.9250	0.44858	T	0.192	0.54433	T	10	0.402662	0.55677	T	0.01123	0.28641	T	0.301	0.62179	0.274	0.22528	0.392547445146	0.38869	0.6183007601087724	0.61763	1.19724128425	0.80435	0.887971282005	0.95005	D	0.064149	0.32359	T	0.0824832	0.62332	D	-0.119295	0.61860	T	0.971141874790192	0.69207	D	0.945105	0.79188	D	0.22522666	0.45179	0.20816678	0.45107	0.22522666	0.45179	0.20816678	0.45106	-8.499	0.64423	D	.	.	0.868	0.84317	P	.;.	.;.	4.807834	0.78178	26.8	0.99869411643248385	0.94726	0.99118	0.91490	D	AEFGBI	0.856582	0.77383	D	0.636021285839524	0.75467	6.311013	0.685764201574679	0.81297	7.493972	0.999999998282092	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	7.509000	0.80581	7.834000	0.70237	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.822	0.85699	747	0.52260	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1097.98	33	chr5	146260794	.	T	C	1097.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=789;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=-5.210e-01;SOR=0.754	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr5	146286009	146286009	G	C	exonic	RBM27	.	nonsynonymous SNV	RBM27:NM_018989:exon21:c.G3162C:p.E1054D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.984	D	0.935	D	0.000	D	1.000	D	2.24	M	-1.2	T	-0.077	T	0.530	D	0.312	3.405	17.50	0.414	0.113	1.464	8.777	0.401	0.126694259352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.984	0.60733	D	0.935	0.67021	D	0.000001	0.62929	D	0.000000	0.99994	0.51968	D	2.57	0.75187	M	-1.2	0.78537	T	-2.43	0.53258	N	0.604	0.62188	-0.0768	0.80625	T	0.530	0.82549	D	10	0.56155825	0.64816	D	0.126694	0.80839	D	0.401	0.71479	0.107	0.01868	0.710301815084	0.70777	0.0974803881878346	0.09679	0.986908435057	0.73940	0.789129674435	0.80310	T	0.342279	0.71108	T	0.0376074	0.56730	T	-0.183756	0.56173	T	0.978155314922333	0.72188	D	0.924008	0.72230	D	0.5375406	0.69258	0.40438652	0.64867	0.5375406	0.69260	0.40438652	0.64868	-4.2	0.26751	T	.	.	0.635	0.70325	P	.	.	3.296734	0.45235	22.1	0.99785765923896841	0.87219	0.89146	0.49438	D	AEFGBI	0.237189	0.35951	N	0.309027367486255	0.56610	3.826061	0.216695905855177	0.50773	3.265896	0.999903693258869	0.45458	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	0.414	0.15624	1.641000	0.36812	2.352000	0.32320	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.6152:0.0:0.3848:0.0	8.777	0.33924	839	0.37672	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2273	429.3	78	chr5	146286009	.	G	C	429.3	.	AC=5;AF=0.227;AN=22;BaseQRankSum=-1.959e+00;DP=1556;ExcessHet=1.1607;FS=123.785;InbreedingCoeff=-0.3072;MLEAC=7;MLEAF=0.318;MQ=60.00;MQRankSum=0.00;QD=1.03;ReadPosRankSum=0.696;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,27:67:99:0|1:146286009_G_C:324,0,653:146286009	6	0	5	10
chr5	146286010	146286010	T	C	exonic	RBM27	.	nonsynonymous SNV	RBM27:NM_018989:exon21:c.T3163C:p.S1055P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.995	D	0.969	D	0.000	D	1.000	D	1.445	L	0.46	T	-0.526	T	0.275	T	0.605	3.216	16.77	5.32	1.998	3.571	15.261	0.178	0.0196224470012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.17	0.30436	T	0.995	0.67487	D	0.969	0.72001	D	0.000002	0.62929	D	0.000000	0.999957	0.52396	D	1.61	0.41143	L	0.46	0.56281	T	-2.19	0.49352	N	0.266	0.30118	-0.5258	0.67699	T	0.275	0.64701	T	10	0.2888462	0.46467	T	0.019622	0.42029	T	0.178	0.44724	0.108	0.01928	0.426039362998	0.42221	0.09694692585479496	0.09626	0.396786836768	0.40786	0.812551379204	0.83882	D	0.251116	0.62132	T	0.0244463	0.54980	T	-0.202661	0.54394	T	0.871832430362701	0.52172	D	0.90281	0.66017	D	0.4725479	0.65447	0.58739346	0.76067	0.4725479	0.65448	0.58739346	0.76068	-7.368	0.56679	T	.	.	0.622	0.69779	P	.	.	4.230383	0.64060	24.7	0.99856421454609945	0.93548	0.91631	0.53932	D	AEFGBI	0.628167	0.61035	D	0.54245640395686	0.69625	5.38347	0.542800382085668	0.70898	5.573445	0.999999878418952	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	3.683000	0.54396	6.145000	0.54110	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.261	0.73323	839	0.37672	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09375	51.57	41	chr5	146286010	.	T	C	51.57	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-2.225e+00;DP=1488;ExcessHet=0.3300;FS=111.728;InbreedingCoeff=-0.1555;MLEAC=3;MLEAF=0.094;MQ=60.00;MQRankSum=0.00;QD=0.21;ReadPosRankSum=-2.400e-02;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,17:69:46:0|1:146286009_G_C:46,0,1427:146286009	13	0	3	5
chr5	146492930	146492930	A	G	exonic	TCERG1	.	nonsynonymous SNV	TCERG1:NM_001040006:exon14:c.A2060G:p.Q687R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.784	P	0.55	P	0.000	D	1.000	D	1.32	L	1.53	T	-1.090	T	0.098	T	0.654	4.213	21.9	5.51	2.217	9.069	15.931	0.157	0.0140942780078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.377e-06	2.736e-06	1.37e-06	1.384e-06	1.184e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.028e-07	0	1.184e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.024	0.57104	D	0.654	0.44396	P	0.55	0.49239	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.975	0.53506	M	1.53	0.30401	T	-1.06	0.27876	N	0.66	0.67822	-1.0897	0.05582	T	0.098	0.36625	T	10	0.61002386	0.67391	D	0.014094	0.33970	T	0.157	0.40909	0.361	0.36548	0.542800796876	0.53932	0.7432346970136934	0.74269	1.05838413245	0.76394	0.875220775604	0.93306	D	0.120726	0.44317	T	0.0370616	0.56659	T	-0.18454	0.56100	T	0.875656127929688	0.52553	D	0.963004	0.86214	D	0.4142447	0.61706	0.2622441	0.52014	0.4142447	0.61707	0.2622441	0.52013	-9.353	0.69940	D	.	.	0.663	0.71440	P	.;.	.;.	4.316933	0.66033	24.9	0.9975549283749936	0.84615	0.99727	0.99005	D	AEFBI	0.901401	0.84804	D	0.474103078681615	0.65581	4.840742	0.561255439492788	0.72183	5.769964	0.999999793972132	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.51	5.51	0.81769	9.098000	0.93552	11.222000	0.89806	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	15.931	0.79451	912	0.21483	FF domain|FF domain|FF domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	551.98	34	chr5	146492930	.	A	G	551.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.516e+00;DP=695;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=1.24;SOR=0.693	GT:AD:DP:GQ:PL	0/1:25,25:50:99:566,0,653	20	0	1	0
chr5	146515817	146515817	G	T	exonic	GPR151	.	stopgain	GPR151:NM_194251:exon1:c.C297A:p.Y99X,	.	.	425	1086	11	0	0	11	0.00503894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	3.417	17.55	3.06	0.772	2.043	9.396	.	.	7.7e-05	0.0061901	0.0030	9.61e-05	0.0010	0.0001	0	0.0001	0	0.0208	0.0026714	413	154602	rs140449635	0.0014	0.0014	0.0008	0.0019	0.0204	0.0013	0.0013	0.0196	0.0192	0	0.0006	3.826e-05	2.519e-05	0	0.0045	5.755e-05	0.0017	0.0204	0.0012	0.0012	0.0008	0.0015	0.0210	0.0010	0.0010	0.0176	0.0164	9.62e-05	0	0.0036	0	0	0	0	0.0002	0.0033	0.0210	.	.	.	.	.	.	.	.	.	.	.	.	0.000007	0.62929	D	0.065823	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.236	0.26596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187773	0.72758	D	0.512542	0.94890	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive|Recessive	High|High	6.717386	0.95636	35	0.99654402164474565	0.77505	0.83861	0.42954	D	AEFDBCI	0.133711	0.25347	N	0.532168726992969	0.69005	5.295777	0.350523550776127	0.58539	4.025021	0.999985109767476	0.51787	0.45559	0.09716	2	0.514364	0.08380	0	0.491513	0.07944	0	0.645665	0.59343	0	.	.	5.88	3.06	0.34374	2.387000	0.44043	1.478000	0.26801	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.579000	0.30870	0.2424:0.0:0.7576:0.0	9.396	0.37564	920	0.19381	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2853.98	48	chr5	146515817	.	G	T	2853.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=963;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.27;ReadPosRankSum=0.399;SOR=0.703	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1126	20	0	1	0
chr5	146515938	146515938	C	T	exonic	GPR151	.	nonsynonymous SNV	GPR151:NM_194251:exon1:c.G176A:p.G59D,	.	.	419	1095	7	1	0	9	0.00409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.884	P	0.361	B	0.002	N	0.985	D	1.1	L	1.2	T	-1.083	T	0.081	T	0.704	2.310	13.68	5.86	2.771	2.483	14.562	0.139	0.00405651127883	7.7e-05	0.000399361	0.0003	9.612e-05	0	0	0.0002	0.0002	0	0.0015	0.0002523	39	154602	rs200132270	0.0002	0.0002	0.0001	0.0003	0.0023	0.0002	0.0002	0.0020	0.0019	2.987e-05	0.0001	0.0003	0	0.0002	0.0017	5.126e-05	0.0004	0.0023	8.544e-05	8.532e-05	7.713e-05	9.413e-05	0.0013	4.958e-05	3.963e-05	0.0005	0.0004	0	0	0	0.0006	0	0	0	5.882e-05	0.0005	0.0013	0.066	0.36113	T	0.07	0.43721	T	0.884	0.48618	P	0.361	0.43233	B	0.002232	0.36970	N	0.265160	0.98468	0.40179	D	1.935	0.51832	L	1.2	0.37405	T	-1.86	0.43524	N	0.476	0.51137	-1.0835	0.06683	T	0.081	0.31972	T	10	0.031108499	0.01242	T	0.004057	0.09681	T	0.139	0.37390	.	.	0.659056841285	0.65620	0.6735879380941323	0.67296	0.205634996662	0.22987	0.448675334454	0.31763	T	0.32764	0.69813	T	-0.275521	0.11148	T	-0.175807	0.56910	T	0.10915940605662	0.13336	T	0.673133	0.28166	T	0.8577898	0.87918	0.85451937	0.91808	0.8577898	0.87919	0.85451937	0.91809	-8.246	0.62734	D	.	.	0.599	0.68838	P	.	.	3.343270	0.46082	22.2	0.99030829538921594	0.50786	0.76984	0.37803	D	AEFBCI	0.241605	0.36319	N	0.348146780608969	0.58643	4.037694	0.445643835389782	0.64437	4.698954	0.995660742710073	0.34254	0.421363	0.06395	0	0.550933	0.16991	0	0.491513	0.07944	0	0.645665	0.59343	0	.	.	5.86	5.86	0.93936	1.774000	0.38203	3.983000	0.40922	0.599000	0.40250	0.809000	0.29839	0.999000	0.35428	0.998000	0.85391	0.0:0.8537:0.1463:0.0	14.562	0.67739	920	0.19381	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2033.98	159	chr5	146515938	.	C	T	2033.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.253;DP=1002;ExcessHet=0.0000;FS=0.584;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.79;ReadPosRankSum=0.646;SOR=0.617	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1126	20	0	1	0
chr5	149233301	149233301	G	A	splicing	ABLIM3	NM_001345860:exon10:c.888+1G>A;NM_001301018:exon10:c.888+1G>A;NM_001345859:exon10:c.888+1G>A;NM_001345858:exon10:c.888+1G>A;NM_014945:exon10:c.888+1G>A;NM_001301015:exon9:c.888+1G>A;NM_001345861:exon9:c.888+1G>A;NM_001301028:exon9:c.888+1G>A;NM_001370418:exon9:c.888+1G>A;NM_001370417:exon9:c.888+1G>A	.	.	.	.	430	1091	1	0	0	1	0.000458085	1.0000	0.932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.490	24.1	6.04	2.873	8.850	20.595	.	.	.	.	2.471e-05	0	0.0002	0	0	1.498e-05	0	0	1.94e-05	3	154602	rs757993248	1.916e-05	1.915e-05	1.906e-05	1.925e-05	0.0002	1.328e-05	1.144e-05	1.779e-05	1.03e-05	0	6.708e-05	0	0	0	0.0002	1.889e-05	1.656e-05	2.319e-05	4.601e-05	4.597e-05	2.57e-05	6.728e-05	7.351e-05	2.11e-05	1.527e-05	2.847e-05	1.858e-05	4.828e-05	0	0	0	0	0	0	7.351e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346928	0.86300	D	0.436408	0.93226	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	6.837334	0.95803	35	0.9950316503924227	0.68147	0.99110	0.91373	D	AEFBI	.	.	.	1.26185006185151	0.99919	31.13643	1.13942550659792	0.99940	32.43528	0.999999999999998	0.74766	0.099367	0.02607	0	0.085267	0.02369	0	0.056003	0.00319	0	0.117559	0.03655	0	0.990436	0.99010	6.04	6.04	0.98025	8.977000	0.93019	9.996000	0.83014	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	20.595	0.99442	746	0.52331	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2364.98	35	chr5	149233301	.	G	A	2364.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.97;DP=945;ExcessHet=0.0000;FS=2.226;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.98;ReadPosRankSum=-3.710e-01;SOR=0.848	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1321	20	0	1	0
chr5	149239273	149239273	C	T	exonic	ABLIM3	.	nonsynonymous SNV	ABLIM3:NM_001301015:exon11:c.C1070T:p.S357F	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.001	B	0.002	B	0.000	D	1.000	D	0.85	L	0.54	T	-1.018	T	0.109	T	0.896	2.897	15.65	5.01	2.481	5.565	16.461	0.297	0.0168894955681	0.0002	.	0.0005	0	0.0003	0	0	0.0006	0	0.0008	0.0004916	76	154602	rs201076202	0.0008	0.0008	0.0008	0.0008	0.0010	0.0008	0.0008	0.0009	0.0009	0.0003	0.0005	3.826e-05	0	1.872e-05	0	0.0010	0.0007	0.0005	0.0003	0.0003	0.0003	0.0004	0.0006	0.0003	0.0002	0.0004	0.0004	4.827e-05	0	0.0004	0	0	0	0	0.0006	0.0005	0.0004	0.076	0.34269	T	0.257	0.45744	T	0.001	0.07471	B	0.002	0.06944	B	0.000022	0.55875	D	0.121045	0.999968	0.81001	D	2.075	0.57047	M	0.54	0.55945	T	-2.89	0.60665	D	0.709	0.71232	-1.0178	0.24431	T	0.109	0.39486	T	10	0.20785645	0.37095	T	0.016889	0.38356	T	0.297	0.61730	.	.	0.714809018452	0.71230	0.6444680942069858	0.64381	0.144935694035	0.16379	0.744935154915	0.73700	T	0.172105	0.52048	T	-0.0670493	0.41799	T	0.0903786	0.76270	D	0.113164804875851	0.13748	T	0.917708	0.70434	D	0.30888733	0.53690	0.2966357	0.55697	0.30888733	0.53690	0.2966357	0.55696	-5.381	0.40736	T	.	.	0.545	0.70576	A	.;.;.	.;.;.	4.137525	0.61958	24.4	0.98219409315290429	0.39290	0.98424	0.82634	D	AEFDBI	0.608667	0.59816	D	-0.167878686612295	0.34477	1.968341	0.0408074806810008	0.41630	2.50428	0.999999999961432	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	5.937000	0.69877	7.665000	0.64460	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	16.461	0.83887	851	0.35303	Putative adherens-junction anchoring domain;Putative adherens-junction anchoring domain;Putative adherens-junction anchoring domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1244.98	50	chr5	149239273	.	C	T	1244.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.47;DP=900;ExcessHet=0.0000;FS=4.704;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=0.297;SOR=0.921	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,111,1665	20	0	1	0
chr5	149259544	149259544	A	G	splicing	ABLIM3	NM_001301028:exon19:c.1606-2A>G	.	.	.	.	423	1063	33	3	0	39	0.0180139	0	0.006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	-1.171	0.089	-8.31	-1.449	-2.826	2.437	.	.	.	0.00479233	0.0129	0	0.0160	0	0.0006	0.0052	0.0055	0.0210	0.0016494	255	154602	rs534581717	0.0032	0.0031	0.0026	0.0039	0.0233	0.0032	0.0031	0.0224	0.0221	0.0002	0.0030	0.0096	2.798e-05	0.0005	0.0074	0.0018	0.0044	0.0233	0.0023	0.0023	0.0020	0.0027	0.0214	0.0021	0.0020	0.0180	0.0168	0.0002	0	0.0025	0.0072	0	9.418e-05	0.0068	0.0024	0.0057	0.0214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.840044	0.00003	T	-0.962521	0.00225	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.095399	0.03670	0.738	0.27858813484829209	0.01403	0.00144	0.00877	N	AEFBI	.	.	.	-1.47130147512055	0.02055	0.09032965	-1.69724869164619	0.01149	0.05170863	0.999982787927218	0.51787	0.218109	0.04136	0	0.059962	0.00310	0	0.078618	0.02440	0	0.357269	0.05819	0	0.103113	0.22672	4.67	-8.31	0.00877	-2.807000	0.00827	-0.339000	0.09830	-2.761000	0.00195	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3957:0.2122:0.2942:0.098	2.437	0.04212	862	0.33134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1609.11	34	chr5	149259544	.	A	G	1609.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.595e+00;DP=854;ExcessHet=0.1072;FS=2.080;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=1.38;SOR=0.820	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	19	0	2	0
chr5	149358085	149358085	C	G	exonic	PCYOX1L	.	nonsynonymous SNV	PCYOX1L:NM_024028:exon1:c.C17G:p.P6R,	.	.	440	1080	2	0	0	2	0.000925069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.0	B	0.0	B	0.115	N	1.000	N	0	N	2.84	T	-0.972	T	0.013	T	0.099	0.494	6.680	-5.21	-0.737	-2.938	3.280	0.010	.	.	.	0.0032	0	0	0	.	0.0132	0.0263	0.0003	0.0001811	28	154602	rs760672430	0.0005	0.0005	0.0005	0.0005	0.0005	0.0005	0.0004	0.0001	9.14e-05	3.824e-05	0	0.0204	0	0	0.0005	0.0001	0.0014	0.0002	0.0006	0.0006	0.0005	0.0006	0.0004	0.0005	0.0004	0.0001	0.0001	2.407e-05	0	0	0.0188	0	0	0.0034	0.0002	0	0.0004	0.583	0.05936	T	0.575	0.08654	T	0.0	0.02946	B	0.0	0.01387	B	0.115409	0.02678	N	1.796260	1	0.08975	N	0	0.06538	N	2.84	0.10674	T	-0.16	0.09460	N	0.105	0.08925	-0.9723	0.36712	T	0.013	0.05273	T	10	0.0034115314	0.00060	T	.	.	.	0.010	0.01040	0.426	0.47185	0.0666544352282	0.05500	0.26166003816284156	0.26079	0.194159565829	0.21749	0.669804215431	0.62810	T	8.38E-4	0.00412	T	-0.618341	0.00113	T	-0.787589	0.02231	T	0.00450139515060346	0.00048	T	0.374863	0.08927	T	0.02462719	0.01313	0.051019028	0.08125	0.02462719	0.01313	0.051019028	0.08124	-3.538	0.16968	T	.	.	0.102	0.18122	B	.	.	-0.685151	0.01355	0.076	0.58079879750987928	0.05912	0.03794	0.09121	N	AEFGBHCIJ	0.025923	0.01857	N	-1.33667435806526	0.03265	0.1455545	-1.39702756160719	0.03284	0.1528584	0.999999999994257	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.249971	0.05119	0	.	.	5.15	-5.21	0.02600	-2.819000	0.00819	-2.124000	0.04177	-1.236000	0.01320	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.092:0.2431:0.3957:0.2693	3.280	0.06504	452	0.79239	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	461.98	24	chr5	149358085	.	C	G	461.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.590e+00;DP=455;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.48;ReadPosRankSum=-7.510e-01;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:20,0:20:60:.:.:0,60,588	20	0	1	0
chr5	149376922	149376928	GGGCCAG	-	exonic	IL17B	.	frameshift deletion	IL17B:NM_014443:exon2:c.119_125del:p.P40Lfs*12,	.	.	393	1128	1	0	0	1	0.000443066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0002	8.66e-05	0	0	3.027e-05	0	0.0011	0.0001423	22	154602	rs775409181	0.0001	0.0001	4.901e-05	0.0002	0.0016	9.093e-05	8.6e-05	0.0014	0.0013	0.0001	0	0	7.557e-05	0	0.0002	6.296e-06	3.312e-05	0.0016	9.194e-05	9.843e-05	7.71e-05	0.0001	0.0004	5.525e-05	4.363e-05	0.0001	0.0001	0.0003	0	6.533e-05	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2333.94	33	chr5	149376921	.	AGGGCCAG	A	2333.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=859;ExcessHet=0.0000;FS=2.213;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.29;ReadPosRankSum=-1.270e-01;SOR=0.499	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr5	149621740	149621740	G	A	exonic	ARHGEF37	.	nonsynonymous SNV	ARHGEF37:NM_001001669:exon9:c.G1013A:p.R338Q,	.	.	419	1033	67	3	0	73	0.0341281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.867	P	0.4	B	0.000	N	1.000	D	2.595	M	-0.06	T	-0.553	T	0.282	T	0.533	4.331	22.8	5.31	1.634	6.692	15.280	0.287	.	0.0017	0.00239617	0.0035	0.0005	0.0013	0.0002	0.0002	0.0026	0.0035	0.0150	0.0030659	474	154602	rs139526604	0.0020	0.0020	0.0015	0.0025	0.0186	0.0019	0.0019	0.0158	0.0147	0.0004	0.0010	0.0044	0.0002	0.0002	0.0186	0.0011	0.0026	0.0137	0.0015	0.0015	0.0013	0.0018	0.0097	0.0014	0.0013	0.0075	0.0067	0.0003	0	0.0019	0.0038	0.0002	0.0004	0.0034	0.0018	0.0028	0.0097	0.028	0.46129	D	0.039	0.51112	D	0.867	0.47667	P	0.4	0.44481	B	0.000024	0.55875	N	0.111842	1	0.81001	D	2.36	0.67893	M	-0.06	0.63568	T	-2.91	0.60982	D	0.196	0.21580	-0.5533	0.66661	T	0.282	0.65359	T	10	0.008068293	0.00183	T	.	.	.	0.287	0.60574	.	.	0.275215494804	0.27121	0.5262534306056779	0.52549	0.307136892763	0.33015	0.341207176447	0.16619	T	0.057572	0.30604	T	-0.238972	0.15480	T	-0.105012	0.63007	T	0.0394868305183321	0.03597	T	0.805919	0.45429	T	0.30385897	0.53248	0.41543442	0.65658	0.30385897	0.53248	0.41543442	0.65658	-2.71	0.07387	T	.	.	0.08	0.07793	B	.	.	3.930896	0.57454	23.9	0.99923209850801342	0.98917	0.98856	0.87762	D	AEFBI	0.633477	0.61371	D	0.47385892718642	0.65568	4.838959	0.506868326422859	0.68453	5.22189	0.999999999995626	0.74766	0.372202	0.05800	0	0.547309	0.14657	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	6.17	5.31	0.75063	6.854000	0.75239	7.439000	0.58857	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.0672:0.0:0.9328:0.0	15.280	0.73478	795	0.45444	BAR domain|BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1822.11	33	chr5	149621740	.	G	A	1822.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.48;DP=878;ExcessHet=0.1072;FS=0.620;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=2.15;SOR=0.633	GT:AD:DP:GQ:PL	0/0:64,0:64:99:0,120,1800	19	0	2	0
chr5	149820496	149820496	G	A	exonic	PPARGC1B	.	nonsynonymous SNV	PPARGC1B:NM_001172698:exon2:c.G142A:p.D48N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.325	M	1.5	T	-0.616	T	0.254	T	0.275	5.625	36	5.76	2.724	9.230	19.968	0.252	0.0277941607984	.	.	8.254e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs765282052	2.942e-05	2.941e-05	2.178e-05	3.713e-05	0.0002	2.217e-05	1.97e-05	0.0001	0.0001	0	0	0	0	0	0	2.338e-05	0	0.0002	3.284e-05	3.281e-05	6.426e-05	0	0.0002	1.26e-05	7.98e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	9.42e-05	0	2.94e-05	0	0.0002	0.016	0.51853	D	0.006	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.98	0.85499	M	1.37	0.37230	T	-2.86	0.67014	D	0.579	0.70878	-0.6155	0.64176	T	0.254	0.62451	T	10	0.48067212	0.60411	T	0.027794	0.50565	D	0.252	0.56159	0.223	0.14665	0.698665058881	0.69606	0.3628740980695406	0.36201	0.676653026678	0.59782	0.754237115383	0.75072	T	0.730269	0.92445	D	-0.234452	0.16064	T	-0.314872	0.43134	T	0.768432156151593	0.44345	D	0.975002	0.91107	D	0.339749	0.56259	0.33051488	0.58920	0.339749	0.56259	0.33051488	0.58919	-8.509	0.64488	D	.	.	0.313	0.59578	B	.;.;.;.	.;.;.;.	5.294917	0.88897	29.8	0.99929699347273726	0.99279	0.99149	0.91949	D	AEFBI	0.881073	0.80817	D	0.937827556326218	0.93487	12.07131	0.923162819112412	0.96505	14.77864	0.999999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.76	5.76	0.90726	9.317000	0.95419	11.754000	0.95474	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.968	0.97276	814	0.42100	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	916.98	34	chr5	149820496	.	G	A	916.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.730;DP=829;ExcessHet=0.0000;FS=0.835;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=-5.200e-02;SOR=0.573	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1119	20	0	1	0
chr5	149832789	149832789	G	A	exonic	PPARGC1B	.	nonsynonymous SNV	PPARGC1B:NM_001172698:exon4:c.G599A:p.S200N	.	.	416	1094	11	1	0	13	0.00590641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.933	P	0.623	P	0.384	N	1.000	N	1.78	L	2.94	T	-1.087	T	0.031	T	0.078	0.846	8.421	3.85	1.402	1.763	10.305	0.049	0.00863472975336	0.0005	0.000798722	0.0009	9.925e-05	0.0031	0	0	0.0008	0.0068	0.0009	0.0008409	130	154602	rs151338666	0.0006	0.0006	0.0006	0.0007	0.0200	0.0006	0.0006	0.0170	0.0159	0.0002	0.0026	0.0020	0	0	0.0200	0.0004	0.0014	0.0008	0.0007	0.0007	0.0008	0.0006	0.0018	0.0006	0.0005	0.0012	0.0011	0.0002	0	0.0018	0.0035	0	0	0.0136	0.0007	0.0028	0.0006	0.003	0.72154	D	0.028	0.54934	D	0.867	0.49136	P	0.461	0.48239	P	0.383765	0.13353	N	0.721594	1	0.08975	N	2.42	0.70002	M	2.89	0.10196	T	-1.58	0.38151	N	0.353	0.39457	-1.0870	0.06048	T	0.031	0.13199	T	10	0.008510768	0.00193	T	0.008635	0.22804	T	0.049	0.13647	.	.	0.229543500084	0.22568	0.14759808508808214	0.14681	0.38529328089	0.39818	0.384144186974	0.22843	T	0.254556	0.62523	T	-0.607626	0.00131	T	-0.650827	0.08897	T	0.0475754293938352	0.05067	T	0.610439	0.23144	T	0.134911	0.31328	0.17989893	0.40755	0.134911	0.31328	0.17989893	0.40754	-5.148	0.39114	T	.	.	0.145	0.34514	B	.;.;.;.	.;.;.;.	1.833887	0.23302	15.96	0.9773674523179342	0.35653	0.52181	0.29070	D	AEFDBI	0.097574	0.19676	N	-0.0500208260370602	0.39602	2.338001	-0.131926770945527	0.34111	1.958532	0.994996718653737	0.33899	0.554377	0.28877	0	0.546412	0.12157	0	0.463624	0.06942	0	0.567892	0.33627	0	.	.	5.76	3.85	0.43556	1.545000	0.35775	5.676000	0.49275	0.676000	0.76740	0.338000	0.25657	1.000000	0.68203	0.016000	0.10718	0.0689:0.2573:0.6738:0.0	10.305	0.42853	816	0.41767	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1010.98	33	chr5	149832789	.	G	A	1010.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.580;DP=1020;ExcessHet=0.0000;FS=3.739;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.72;ReadPosRankSum=1.61;SOR=0.980	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1151	20	0	1	0
chr5	150077326	150077326	G	A	exonic	CSF1R	.	nonsynonymous SNV	CSF1R:NM_001288705:exon5:c.C839T:p.A280V	Leukoencephalopathy, diffuse hereditary, with spheroids, Autosomal dominant	YES	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.989	D	0.000	D	0.997	N	1.905	M	2.4	T	-1.126	T	0.086	T	0.576	3.590	18.28	3.28	2.333	1.638	9.26	0.178	0.0189260752193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.65419	D	0.024	0.63109	D	1.0	0.90584	D	0.964	0.71005	D	0.000167	0.48594	D	0.000000	0.997346	0.22819	N	2.685	0.78553	M	2.4	0.15608	T	-3.15	0.67014	D	0.394	0.55972	-1.1257	0.01999	T	0.086	0.33550	T	10	0.6137899	0.67591	D	0.018926	0.41149	T	0.178	0.44724	0.586	0.71371	0.650377387996	0.64747	0.9036322149995595	0.90336	0.312932419214	0.33594	0.422921448946	0.28239	T	0.284393	0.65717	T	-0.088068	0.38394	T	-0.36428	0.37557	T	0.899274826049805	0.55154	D	0.858914	0.55137	D	0.7253823	0.79462	0.65187675	0.79628	0.7253823	0.79464	0.65187675	0.79629	-5.096	0.45554	T	0.3020317309802914	0.39944	0.308	0.57261	B	.;.	.;.	3.165623	0.42909	21.6	0.9989697654542169	0.96971	0.17211	0.19738	N	AEFDBI	0.219944	0.34476	N	0.174922923656101	0.49998	3.194113	0.0371410617015004	0.41453	2.490758	0.994660319214681	0.33742	0.446893	0.09132	0	0.547309	0.14657	0	0.573078	0.19857	0	0.530356	0.10902	0	.	.	4.25	3.28	0.36691	1.664000	0.37055	6.031000	0.52920	0.676000	0.76740	0.467000	0.26699	1.000000	0.68203	0.011000	0.09372	0.0:0.2212:0.7788:0.0	9.26	0.36766	548	0.72362	Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2881.98	34	chr5	150077326	.	G	A	2881.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.056e+00;DP=970;ExcessHet=0.0000;FS=1.084;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=1.09;SOR=0.611	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,102,1530	20	0	1	0
chr5	150129832	150129832	G	A	exonic	PDGFRB	.	nonsynonymous SNV	PDGFRB:NM_001355016:exon9:c.C1312T:p.R438W	Basal ganglia calcification, idiopathic, 4, Autosomal dominant;Kosaki overgrowth syndrome, Autosomal dominant;Myeloproliferative disorder with eosinophilia, Autosomal dominant;Myofibromatosis, infantile, 1, Autosomal dominant;Premature aging syndrome, Penttinen type, Autosomal dominant	.	9	1503	10	0	0	10	0.00331565	.	.	691786	Infantile_myofibromatosis|Skeletal_overgrowth-craniofacial_dysmorphism-hyperelastic_skin-white_matter_lesions_syndrome|Acroosteolysis-keloid-like_lesions-premature_aging_syndrome|Basal_ganglia_calcification,_idiopathic,_4	MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550,Orphanet:2591|MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592,Orphanet:477831|MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812,Orphanet:363665|MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007,Orphanet:1980	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.987	D	0.462	P	0.153	N	0.988	N	0	N	-0.99	T	-0.868	T	0.194	T	0.155	3.371	17.36	4.05	1.245	2.740	7.953	0.244	0.17604741671	0.0009	0.000599042	0.0012	0.0002	0.0005	0	0.0008	0.0011	0	0.0035	0.0011384	176	154602	rs142992960	0.0011	0.0011	0.0011	0.0012	0.0034	0.0011	0.0011	0.0030	0.0029	5.974e-05	0.0004	0.0017	5.038e-05	0.0012	0.0012	0.0010	0.0013	0.0034	0.0008	0.0008	0.0007	0.0009	0.0041	0.0007	0.0006	0.0027	0.0023	0.0001	0	0.0003	0.0023	0	0.0013	0	0.0009	0.0019	0.0041	0.004	0.65419	D	0.012	0.63918	D	0.987	0.61912	D	0.394	0.44277	B	0.153054	0.17904	N	0.510024	0.988299	0.24426	N	0.895	0.22405	L	-0.99	0.75911	T	-1.88	0.43906	N	0.224	0.25130	-0.8683	0.50657	T	0.194	0.54710	T	10	0.010773361	0.00238	T	0.176047	0.85193	D	0.244	0.55061	.	.	0.522710055283	0.51916	0.4928754038390284	0.49208	1.55043525411	0.87889	0.215069547296	0.01045	T	0.587593	0.86591	D	-0.388394	0.02755	T	-0.334042	0.41019	T	0.0195838704209447	0.00661	T	0.934407	0.75457	D	0.082097694	0.18895	0.097309776	0.23157	0.082097694	0.18895	0.097309776	0.23157	-8.809	0.66459	D	0.11459484419628667	0.10158	0.100	0.16973	B	.	.	4.891807	0.80320	27.3	0.99656843108552062	0.77694	0.90533	0.51788	D	AEFDGBHCI	0.432715	0.49448	N	-0.0571964068766796	0.39282	2.313943	-0.0255533165133783	0.38564	2.273863	0.999999999982318	0.74766	0.656854	0.48797	0	0.69481	0.67340	0	0.471687	0.07189	1	0.691587	0.68394	0	.	.	4.95	4.05	0.46415	3.051000	0.49576	11.840000	0.97786	0.674000	0.70861	0.994000	0.38300	1.000000	0.68203	0.592000	0.31189	0.0:0.1773:0.6393:0.1834	7.953	0.29186	561	0.71236	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2009.98	35	chr5	150129832	.	G	A	2009.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.560;DP=872;ExcessHet=0.0000;FS=8.942;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.58;ReadPosRankSum=-3.980e-01;SOR=0.285	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1386	20	0	1	0
chr5	150167201	150167201	C	T	exonic	CDX1	.	nonsynonymous SNV	CDX1:NM_001804:exon1:c.C325T:p.P109S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.95	T	0.149	B	0.054	B	0.003	U	0.910	D	0.695	N	1.06	T	-1.062	T	0.055	T	0.183	1.299	10.25	3.54	1.808	2.313	9.696	0.041	0.20966205449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.901	0.02418	T	0.974	0.02459	T	0.149	0.27956	B	0.054	0.25828	B	0.002645	0.36173	U	0.226113	0.909549	0.36374	D	0.81	0.20779	L	1.06	0.39781	T	0.52	0.02853	N	0.094	0.07398	-1.0615	0.11385	T	0.055	0.23148	T	10	0.10266492	0.18830	T	0.209662	0.87211	D	0.041	0.10877	0.314	0.28935	0.258436476835	0.25460	0.5494430401508557	0.54870	1.18802059473	0.80198	0.847805976868	0.89283	D	0.057668	0.30631	T	-0.203403	0.20315	T	-0.529951	0.19292	T	0.697085082530975	0.40580	D	0.30237	0.05722	T	0.03396589	0.03719	0.07668303	0.17008	0.03396589	0.03719	0.07668303	0.17008	-5.523	0.42082	T	.	.	0.074	0.04975	B	.	.	3.153783	0.42703	21.6	0.99191220138559255	0.54994	0.75018	0.36714	D	AEFDBI	0.211836	0.33759	N	-0.497057728662331	0.22176	1.18233	-0.364266902732081	0.26071	1.43772	0.999999435301337	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	3.54	3.54	0.39650	3.038000	0.49473	2.144000	0.30864	0.458000	0.21545	1.000000	0.71638	0.993000	0.31925	0.813000	0.38311	0.0:0.8848:0.0:0.1152	9.696	0.39324	657	0.62240	Caudal-like activation domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	618.98	31	chr5	150167201	.	C	T	618.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.775;DP=593;ExcessHet=0.0000;FS=3.329;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.76;ReadPosRankSum=1.19;SOR=0.581	GT:AD:DP:GQ:PL	0/0:16,0:16:48:0,48,508	20	0	1	0
chr5	150194893	150194893	G	A	exonic	SLC6A7	.	nonsynonymous SNV	SLC6A7:NM_014228:exon2:c.G199A:p.A67T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.269	B	0.351	B	0.000	D	0.990	D	1.605	L	-0.84	T	-0.306	T	0.424	T	0.576	3.002	16.01	5.82	2.756	2.983	20.085	0.379	0.0377479562622	.	.	1.654e-05	0	0	0	0	1.503e-05	0	6.15e-05	1.29e-05	2	154602	rs763619367	1.095e-05	1.094e-05	8.168e-06	1.375e-05	0.0003	6.48e-06	5.24e-06	6.096e-05	2.522e-05	2.987e-05	0	0	0	0	0.0003	8.094e-06	1.656e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292	0.18371	T	0.13	0.39340	T	0.269	0.31731	B	0.351	0.42849	B	0.000008	0.62929	D	0.109624	0.990227	0.41113	D	2.24	0.63355	M	-0.84	0.74265	T	-2.34	0.51811	N	0.445	0.49146	-0.3058	0.74823	T	0.424	0.76796	T	10	0.6116603	0.67478	D	0.037748	0.57805	D	0.379	0.69696	0.901	0.97816	0.887071728796	0.88596	0.4164770372269345	0.41563	0.230418025629	0.25588	0.817568182945	0.84655	D	0.25257	0.62297	T	-0.100568	0.36330	T	-0.200707	0.54579	T	0.272937774658203	0.23873	T	0.918108	0.70605	D	0.3324443	0.55670	0.38990754	0.63799	0.3324443	0.55670	0.38990754	0.63799	-5.411	0.41025	T	.	.	0.382	0.58523	A	.;.	.;.	3.837586	0.55512	23.6	0.99801409203295155	0.88639	0.93915	0.59560	D	AEFDGBI	0.517685	0.54370	D	0.158993768718815	0.49238	3.126476	0.257395488322713	0.53071	3.477977	0.972106338549959	0.29342	0.516011	0.20929	0	0.610034	0.51514	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.82	5.82	0.92740	2.487000	0.44926	6.718000	0.56421	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.754000	0.35928	0.0:0.0:1.0:0.0	20.085	0.97797	779	0.47767	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1433.98	34	chr5	150194893	.	G	A	1433.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.229;DP=811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=-1.594e+00;SOR=0.731	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr5	150368786	150368786	A	G	exonic	TCOF1	.	nonsynonymous SNV	TCOF1:NM_000356:exon5:c.A449G:p.N150S	Treacher Collins syndrome 1, Autosomal dominant	.	0	1519	3	0	0	3	0.000986518	.	.	521403	TCOF1-related_disorder|Inborn_genetic_diseases|Treacher_Collins_syndrome_1	.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007944,MedGen:CN315775,OMIM:154500,Orphanet:861	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.1	T	0.072	B	0.031	B	0.081	N	1.000	N	0	N	1.62	T	-0.943	T	0.162	T	0.015	-1.605	0.014	2.23	0.664	1.865	6.753	0.074	0.0139715005022	7.7e-05	.	4.963e-05	0	0.0002	0	0	0	0	0.0002	5.82e-05	9	154602	rs141805606	3.557e-05	3.557e-05	3.267e-05	3.851e-05	0.0002	2.762e-05	2.501e-05	8.885e-05	7.053e-05	0	0.0001	0	2.519e-05	1.876e-05	0	2.428e-05	6.623e-05	0.0002	1.97e-05	1.969e-05	1.285e-05	2.685e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.038	0.53172	D	0.49	0.24840	T	0.043	0.23997	B	0.014	0.21939	B	0.080933	0.20895	N	0.349077	1	0.08975	N	0	0.06538	N	-0.77	0.73739	T	-1.92	0.45222	N	0.207	0.29081	-0.9425	0.42218	T	0.162	0.49715	T	10	0.085684	0.14489	T	0.013972	0.33765	T	0.074	0.21613	.	.	0.333326979144	0.32939	0.0660408273163782	0.06543	0.0641732032036	0.07151	0.244308650494	0.03192	T	0.160811	0.50480	T	-0.414984	0.01842	T	-0.541723	0.18128	T	0.0308077155491525	0.02115	T	0.89721	0.66542	D	0.042799138	0.06557	0.05996803	0.11343	0.042799138	0.06556	0.05996803	0.11342	-1.984	0.03151	T	0.1368363125262857	0.15000	0.076	0.12560	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	1.665280	0.21236	15.11	0.64659046074297755	0.07555	0.68560	0.33848	D	ALL	0.053082	0.09533	N	-0.776680014300228	0.13920	0.6893033	-0.736079576396302	0.16066	0.8481003	0.999837248686893	0.43792	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.43	2.23	0.27189	1.844000	0.38910	3.042000	0.36085	0.756000	0.94297	0.912000	0.31733	0.960000	0.29291	0.139000	0.19909	0.7584:0.2416:0.0:0.0	6.753	0.22686	846	0.36215	.;.;.;.;.;Treacle protein domain;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1272.98	34	chr5	150368786	.	A	G	1272.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.304;DP=787;ExcessHet=0.0000;FS=0.774;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=-1.339e+00;SOR=0.818	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1294	20	0	1	0
chr5	150372138	150372138	C	T	exonic	TCOF1	.	nonsynonymous SNV	TCOF1:NM_001008657:exon7:c.C772T:p.P258S	Treacher Collins syndrome 1, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.752	P	0.273	B	0.693	N	1.000	N	0.69	N	1.47	T	-1.049	T	0.089	T	0.214	1.293	10.23	0.527	0.080	0.032	3.569	0.044	0.0221933302984	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1039544056	1.026e-05	1.026e-05	1.089e-05	9.625e-06	2.987e-05	6.16e-06	4.89e-06	7.31e-06	5.72e-06	2.987e-05	0	0	0	0	0	1.259e-05	0	0	1.314e-05	1.313e-05	2.569e-05	0	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	0.268	0.16683	T	0.478	0.38450	T	0.651	0.43309	P	0.273	0.40007	B	0.692844	0.10160	N	0.819944	1	0.19363	N	0.895	0.22405	L	0.09	0.61559	T	-0.14	0.09135	N	0.202	0.25499	-1.0489	0.14705	T	0.089	0.34298	T	10	0.049779117	0.04615	T	0.022193	0.45053	T	0.044	0.11924	0.193	0.10437	0.246926113748	0.24311	0.03788046648442814	0.03734	0.312491298076	0.33552	0.291013717651	0.09070	T	0.056735	0.30370	T	-0.180998	0.23589	T	-0.497768	0.22580	T	0.0669502800188603	0.08217	T	0.857714	0.57430	D	0.029240355	0.02388	0.03139156	0.01722	0.029240355	0.02388	0.03139156	0.01722	-3.468	0.17067	T	0.15087321040358315	0.17755	0.079	0.10691	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	-0.127288	0.03481	0.651	0.77443961094755087	0.11878	0.09909	0.15556	N	AEFDBCI	0.039942	0.05873	N	-1.07173171280168	0.07168	0.332173	-1.15157814556767	0.06739	0.3254297	0.295418127308899	0.19133	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.16	0.527	0.16277	-0.242000	0.08945	-0.327000	0.09919	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5639:0.2153:0.2208:0.0	3.569	0.07462	851	0.35303	Treacle protein domain;.;Treacle protein domain;.;.;.;.;Treacle protein domain;Treacle protein domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1713.98	34	chr5	150372138	.	C	T	1713.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.755;DP=845;ExcessHet=0.0000;FS=9.072;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.51;ReadPosRankSum=0.457;SOR=0.296	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1228	20	0	1	0
chr5	150372183	150372200	AGTGAGGAGGGATCTGAA	-	exonic	TCOF1	.	nonframeshift deletion	TCOF1:NM_001008657:exon7:c.817_834del:p.G276_E281del	Treacher Collins syndrome 1, Autosomal dominant	.	1	1515	5	1	0	7	0.00230491	.	.	425627	TCOF1-related_disorder|not_specified|not_provided|Treacher_Collins_syndrome_1	.|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007944,MedGen:CN315775,OMIM:154500,Orphanet:861	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0028	0.000998403	0.0018	0.0003	0.0013	0	0.0014	0.0024	0.0012	0.0018	0.0002305	6	26028	rs528897827	0.0037	0.0038	0.0039	0.0036	0.0045	0.0037	0.0036	0.0044	0.0043	0.0007	0.0015	0.0001	2.519e-05	0.0016	0.0005	0.0045	0.0031	0.0015	0.0026	0.0026	0.0025	0.0026	0.0049	0.0024	0.0023	0.0040	0.0036	0.0008	0.0022	0.0049	0	0	0.0032	0	0.0035	0.0024	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1343.94	34	chr5	150372182	.	TAGTGAGGAGGGATCTGAA	T	1343.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.520e-01;DP=814;ExcessHet=0.0000;FS=0.828;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.27;ReadPosRankSum=0.196;SOR=0.569	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1228	20	0	1	0
chr5	150375799	150375799	G	A	exonic	TCOF1	.	nonsynonymous SNV	TCOF1:NM_000356:exon11:c.G1552A:p.V518I	Treacher Collins syndrome 1, Autosomal dominant	.	0	1517	5	0	0	5	0.00164528	.	.	296447	Treacher_Collins_syndrome_1|not_specified|not_provided	MONDO:MONDO:0007944,MedGen:CN315775,OMIM:154500,Orphanet:861|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.03	D	0.951	P	0.76	P	0.038	N	1.000	N	1.59	L	-0.25	T	-0.880	T	0.249	T	0.204	2.628	14.75	1.02	0.470	0.480	2.166	0.136	.	0.0089	0.00239617	0.0077	0.0026	0.0029	0	0.0151	0.0112	0.0066	0.0012	0.0074579	1153	154602	rs75583421	0.0097	0.0097	0.0099	0.0096	0.0112	0.0096	0.0095	0.0111	0.0110	0.0013	0.0032	0.0094	0	0.0135	0.0005	0.0112	0.0081	0.0012	0.0078	0.0078	0.0076	0.0081	0.0111	0.0075	0.0073	0.0105	0.0102	0.0021	0	0.0072	0.0110	0	0.0166	0	0.0111	0.0085	0.0019	0.016	0.59928	D	0.162	0.42976	T	0.951	0.53992	P	0.76	0.56425	P	0.037673	0.01837	N	2.502770	1	0.08975	N	1.965	0.53209	M	-0.25	0.67011	T	-0.77	0.22508	N	0.113	0.14338	-0.8797	0.49786	T	0.249	0.61878	T	10	0.005758971	0.00128	T	.	.	.	0.136	0.36778	.	.	0.429154209284	0.42533	0.04733251895107793	0.04676	0.383352055737	0.39662	0.288181900978	0.08658	T	0.112068	0.42806	T	-0.441999	0.01258	T	-0.398283	0.33583	T	0.0196816857140967	0.00671	T	0.865313	0.59601	D	0.06207229	0.12925	0.046122603	0.06359	0.06864404	0.14973	0.054041408	0.09218	-4.972	0.39346	T	0.2441572400353352	0.33071	0.108	0.25429	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	1.222183	0.16164	12.36	0.99650463649884968	0.77254	0.17462	0.19848	N	AEFDBCI	0.056888	0.10553	N	-0.574713573974623	0.19715	1.03399	-0.663322229630827	0.17881	0.9527643	0.956405225962285	0.28245	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.16	1.02	0.19102	0.390000	0.20494	0.054000	0.14040	0.618000	0.50648	0.005000	0.17040	0.000000	0.08366	0.337000	0.25363	0.1128:0.1975:0.4867:0.203	2.166	0.03603	851	0.35303	.;Treacle protein domain;.;.;.;Treacle protein domain;.;.;.;.;Treacle protein domain;Treacle protein domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.04762	2061.11	47	chr5	150375799	.	G	A	2061.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.152;DP=909;ExcessHet=0.1072;FS=4.337;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.64;ReadPosRankSum=0.677;SOR=0.802	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1217	19	0	2	0
chr5	150403273	150403273	G	A	exonic	CD74	.	nonsynonymous SNV	CD74:NM_001025159:exon7:c.C665T:p.A222V,	.	.	426	1089	7	0	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.094	B	0.097	B	0.516	N	1.000	N	-0.045	N	-0.05	T	-0.991	T	0.131	T	0.218	0.997	9.072	-5.28	-1.029	-0.467	17.763	0.130	0.0204987983372	0.0002	0.000399361	0.0003	0	0.0004	0	0	0.0004	0	0.0005	0.0002975	46	154602	rs201625143	0.0002	0.0002	0.0002	0.0003	0.0042	0.0002	0.0002	0.0029	0.0024	2.987e-05	0.0006	0	0	7.49e-05	0.0042	0.0002	0.0004	0.0008	0.0001	0.0001	0.0001	0.0001	0.0003	7.084e-05	5.742e-05	0.0001	8.277e-05	0	0	0.0003	0	0	9.413e-05	0.0102	0.0001	0	0.0002	0.332	0.13045	T	0.257	0.23231	T	0.094	0.25382	B	0.097	0.30390	B	0.516318	0.05176	N	1.225170	1	0.18878	N	0.745	0.18958	N	-0.05	0.63403	T	-0.87	0.23590	N	0.148	0.15046	-0.9912	0.32295	T	0.131	0.44129	T	10	0.040401906	0.02606	T	0.020499	0.43107	T	0.130	0.35528	.	.	0.356281029322	0.35234	0.5395797845951315	0.53882	0.484600533098	0.47364	0.271448642015	0.06331	T	0.136661	0.46916	T	-0.439969	0.01294	T	-0.502169	0.22123	T	0.0238227025511468	0.01123	T	0.742826	0.36203	T	0.09019445	0.21098	0.09017445	0.21131	0.09019445	0.21098	0.09017445	0.21131	-4.809	0.34696	T	.	.	0.130	0.27851	B	.	.	2.173566	0.27700	17.55	0.91949836092306059	0.21276	0.21872	0.21553	N	ALL	0.159455	0.28525	N	-1.34511154940331	0.03176	0.1414354	-1.36708961979633	0.03608	0.1686717	0.999999996254709	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.465395	0.07113	1	0.727631	0.95156	0	.	.	5.61	-5.28	0.02543	-0.486000	0.06593	1.230000	0.25036	-0.126000	0.13398	0.000000	0.06391	0.801000	0.26950	0.188000	0.21541	0.0:0.0807:0.1432:0.7762	17.763	0.88379	798	0.45050	Thyroglobulin type-1|Thyroglobulin type-1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1056.98	34	chr5	150403273	.	G	A	1056.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.301e+00;DP=823;ExcessHet=0.0000;FS=1.440;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.39;ReadPosRankSum=0.028;SOR=0.564	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr5	150618479	150618479	G	A	exonic	SYNPO	.	nonsynonymous SNV	SYNPO:NM_001166208:exon2:c.G112A:p.E38K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.366	B	0.019	B	0.002	N	1.000	D	1.61	L	1.88	T	-1.073	T	0.048	T	0.245	2.130	13.08	3.84	2.265	3.137	9.089	0.040	0.00872959264565	.	.	5.196e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs763095621	6.289e-05	6.156e-05	6.487e-05	6.086e-05	7.044e-05	5.183e-05	4.833e-05	5.768e-05	5.266e-05	0	2.801e-05	0	0	0.0001	0	7.044e-05	8.62e-05	1.262e-05	3.941e-05	3.94e-05	5.138e-05	2.689e-05	8.819e-05	1.715e-05	1.129e-05	3.761e-05	2.575e-05	0	0	0	0	0	0	0	8.819e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.366	0.34016	B	0.019	0.18783	B	0.001597	0.38554	N	0.000000	0.926147	0.27175	N	1.555	0.39373	L	1.88	0.23884	T	-0.77	0.21429	N	0.321	0.36674	-1.0725	0.08873	T	0.048	0.20395	T	10	0.1267958	0.24108	T	0.00873	0.23050	T	0.040	0.10527	0.257	0.19845	0.184605227958	0.18053	0.33284784469401907	0.33197	0.57651665974	0.53601	0.508530139923	0.40017	T	0.133895	0.46484	T	-0.265131	0.12306	T	-0.433976	0.29485	T	0.306170145354962	0.25257	T	0.717028	0.32946	T	0.38095993	0.59385	0.50133455	0.71172	0.38095993	0.59386	0.50133455	0.71172	-5.841	0.44930	T	.	.	0.118	0.25100	B	.;.	.;.	3.353502	0.46269	22.3	0.99701318305479081	0.80660	0.64845	0.32540	D	AEFDBI	0.225782	0.34982	N	0.0395091088651335	0.43660	2.654702	0.131070438484766	0.46146	2.865475	0.999950857558627	0.48110	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	4.93	3.84	0.43422	2.147000	0.41849	7.268000	0.57981	0.676000	0.76740	0.984000	0.35821	1.000000	0.68203	0.632000	0.32210	0.1194:0.0:0.8806:0.0	9.089	0.35760	866	0.32446	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1077.98	33	chr5	150618479	.	G	A	1077.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=806;ExcessHet=0.0000;FS=3.087;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.65;ReadPosRankSum=1.11;SOR=0.373	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1019	20	0	1	0
chr5	150656462	150656462	C	G	exonic	SYNPO	.	nonsynonymous SNV	SYNPO:NM_007286:exon3:c.C2087G:p.P696R,	.	.	383	1137	2	0	0	2	0.000878735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.982	D	0.829	P	.	.	1.000	D	0	N	.	.	-0.914	T	0.142	T	0.142	4.582	24.9	4.83	2.218	0.846	14.859	0.191	0.0340453591702	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1244756063	1.521e-05	1.642e-05	1.287e-05	1.761e-05	0.0002	9.77e-06	8.3e-06	1.128e-05	9.09e-06	0	2.81e-05	0	0	0	0.0002	1.763e-05	0	0	1.315e-05	1.313e-05	1.285e-05	1.346e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.181	0.21884	T	0.092	0.39954	T	0.982	0.60036	D	0.829	0.59562	P	.	.	.	.	0.744604	0.33860	D	.	.	.	.	.	.	-0.21	0.10308	N	0.286	0.32370	-0.9138	0.46377	T	0.142	0.46220	T	7	0.2107158	0.37475	T	0.034045	0.55408	D	0.191	0.46948	0.24	0.17218	0.128874641272	0.12493	.	.	.	.	.	.	.	.	.	.	-0.158763	0.26951	T	-0.465828	0.25966	T	0.634268164634705	0.37795	D	0.630137	0.24490	T	.	.	.	.	.	.	.	.	-4.103	0.25335	T	.	.	0.225	0.45665	B	.	.	4.091227	0.60938	24.3	0.99856661640340616	0.93548	0.75090	0.36751	D	AEFDBHCI	0.303359	0.41136	N	0.189225703818912	0.50682	3.255908	0.2341047611288	0.51750	3.354871	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.166054	0.03999	2	0.297074	0.05519	2	.	.	4.83	4.83	0.61880	0.745000	0.25927	5.760000	0.49678	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	14.859	0.70001	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1319.98	33	chr5	150656462	.	C	G	1319.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.820e-01;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.17;ReadPosRankSum=0.078;SOR=0.723	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1037	20	0	1	0
chr5	150795591	150795591	C	T	exonic	SMIM3	.	nonsynonymous SNV	SMIM3:NM_032947:exon2:c.C151T:p.R51W,	.	.	431	1058	32	1	0	34	0.015814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.547	D	.	.	.	.	-0.724	T	0.105	T	0.545	3.282	17.02	4.25	1.483	1.480	11.905	0.184	.	.	0.0313498	0.0314	0	0.0036	0.0088	0	0.0007	0.0223	0.1301	0.0127618	1973	154602	rs2278396	0.0079	0.0079	0.0051	0.0109	0.1047	0.0078	0.0078	0.1029	0.1021	0.0002	0.0006	0.0004	0.0479	2.504e-05	0.0040	0.0003	0.0076	0.1047	0.0043	0.0043	0.0024	0.0064	0.1143	0.0040	0.0039	0.1064	0.1032	0.0002	0	0.0005	0.0009	0.0131	0	0	0.0002	0.0024	0.1143	0.078	0.33923	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.547288	0.32103	D	.	.	.	.	.	.	-5.81	0.88224	D	0.159	0.16586	-0.7244	0.59244	T	0.105	0.38489	T	4	0.0017156005	0.00021	T	.	.	.	0.184	0.45763	.	.	.	.	0.9545064649911522	0.95435	9.75130162978E-4	0.00084	0.627529084682	0.56795	T	0.12772	0.45492	T	-0.37132	0.03528	T	-0.219299	0.52805	T	0.0434193766329989	0.04315	T	0.817618	0.47476	T	0.247569	0.47736	0.37497327	0.62651	0.247569	0.47736	0.37497327	0.62651	-7.609	0.58374	D	.	.	0.113	0.23848	B	.;.	.;.	3.824500	0.55248	23.6	0.99850030283275237	0.92925	0.75428	0.36930	D	AEFGBI	0.447354	0.50303	N	0.117972394915461	0.47302	2.957785	0.164970012845251	0.47940	3.016899	0.999999558633297	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.616125	0.45549	0	.	.	5.11	4.25	0.49658	1.647000	0.36876	2.193000	0.31224	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.9131:0.0:0.0869	11.905	0.51985	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1277.98	36	chr5	150795591	.	C	T	1277.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=834;ExcessHet=0.0000;FS=1.496;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.83;ReadPosRankSum=2.37;SOR=0.861	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr5	150848654	150848654	-	GT	exonic	IRGM	.	frameshift insertion	IRGM:NM_001145805:exon2:c.531_532insGT:p.C179Yfs*4	.	.	0	1520	1	1	0	3	0.000985869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.863e-05	0	0	0	0	0	0	0.0002	3.84e-05	1	26028	rs748111523	8.693e-06	8.893e-06	2.849e-06	1.474e-05	0.0002	4.64e-06	3.66e-06	8.946e-05	7.005e-05	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1188.94	33	chr5	150848654	.	G	GGT	1188.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.459e+00;DP=780;ExcessHet=0.0000;FS=13.168;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.98;ReadPosRankSum=-1.126e+00;SOR=0.132	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1357	20	0	1	0
chr5	150896215	150896215	T	C	exonic	ZNF300	.	nonsynonymous SNV	ZNF300:NM_001172832:exon5:c.A916G:p.I306V	.	.	411	1106	4	1	0	6	0.00270514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.063	B	0.103	B	.	.	1.000	N	-0.36	N	2.27	T	-0.937	T	0.017	T	0.186	-1.383	0.025	3.14	1.440	0.054	5.032	0.050	.	.	0.00239617	0.0021	0	8.766e-05	0.0001	0	0.0002	0.0033	0.0139	0.00174	269	154602	rs199921485	0.0009	0.0009	0.0006	0.0012	0.0121	0.0009	0.0008	0.0115	0.0113	2.989e-05	2.241e-05	0.0003	2.519e-05	0	0.0019	0.0002	0.0012	0.0121	0.0005	0.0005	0.0003	0.0007	0.0124	0.0004	0.0004	0.0099	0.0090	4.813e-05	0	0	0	0	0	0	0.0002	0	0.0124	0.736	0.07259	T	0.321	0.20164	T	0.063	0.23376	B	0.103	0.30945	B	.	.	.	.	1	0.18612	N	-0.28	0.03718	N	2.27	0.17431	T	0.02	0.06739	N	0.13	0.14196	-0.9367	0.43134	T	0.017	0.06902	T	9	0.0086912215	0.00197	T	.	.	.	0.050	0.13987	.	.	0.27855597813	0.27464	0.011911820871451442	0.01151	0.274175235635	0.29914	0.695755243301	0.66532	T	0.006537	0.05971	T	-0.631214	0.00094	T	-0.668441	0.07708	T	0.0263360561209093	0.01451	T	0.157784	0.01400	T	0.032282185	0.03224	0.04254942	0.05093	0.032282185	0.03224	0.04254942	0.05093	-3.678	0.19895	T	.	.	0.223	0.46049	B	.;.;.;.	.;.;.;.	1.729140	0.22006	15.44	0.80443920630631982	0.13206	0.00021	0.00226	N	AEDBHCI	0.050430	0.08812	N	-0.788669896561286	0.13605	0.6714164	-0.657147146860922	0.18037	0.9617449	0.0136792501649907	0.12496	0.706548	0.73137	0	0.588015	0.36545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.14	3.14	0.35196	-1.787000	0.01861	-1.973000	0.04409	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.999000	0.91618	0.0:0.1385:0.0:0.8615	5.032	0.13755	648	0.63242	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1572.98	34	chr5	150896215	.	T	C	1572.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.92;DP=835;ExcessHet=0.0000;FS=0.702;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.80;ReadPosRankSum=-3.750e-01;SOR=0.593	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1231	20	0	1	0
chr5	151288934	151288934	C	T	exonic	SLC36A3	.	nonsynonymous SNV	SLC36A3:NM_001145017:exon5:c.G527A:p.R176K,	.	.	1075	439	2	6	0	14	0.0156951	0.9999	0.958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	B	0.011	B	.	.	1.000	N	.	.	2.61	T	-0.955	T	0.013	T	0.055	0.453	6.462	0.225	0.300	0.305	.	0.018	.	.	0.0091853	0	.	.	.	.	0	.	.	0.0001153	3	26028	rs138293383	0.0044	0.0009	0.0031	0.0052	0.0056	0.0015	0.0009	0.0010	0.0004	0	0	0	0	0	0.0056	0.0025	0.0192	0	0.0046	0.0047	0.0041	0.0052	0.0268	0.0044	0.0043	0.0231	0.0217	0.0010	0.0175	0.0026	0.0179	0	0.0053	0.0207	0.0050	0.0062	0.0268	0.545	0.06691	T	0.238	0.24549	T	0.002	0.09854	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	.	.	.	2.61	0.13095	T	0.11	0.05706	N	0.187	0.20395	-0.9552	0.40060	T	0.013	0.05129	T	6	0.0050709248	0.00110	T	.	.	.	0.018	0.03083	.	.	0.0401082797425	0.02173	0.2737607287719573	0.27289	0.0351969744891	0.03713	.	.	.	.	.	.	-0.717521	0.00029	T	-0.802768	0.01834	T	0.0224380385084349	0.00959	T	0.167383	0.01560	T	.	.	.	.	.	.	.	.	-5.272	0.39665	T	.	.	0.192	0.41171	B	.	.	1.981830	0.25175	16.67	0.81203421815851884	0.13570	0.00314	0.01657	N	AEFGI	0.066884	0.13120	N	-0.566139754880559	0.19981	1.049934	-0.863350825191903	0.12966	0.670075	1.89784645244886E-4	0.05844	0.497415	0.19182	0	0.547309	0.14657	0	0.514364	0.09456	0	0.542086	0.14980	0	.	.	0.225	0.225	0.14598	0.305000	0.19006	-0.124000	0.11690	0.454000	0.21428	0.093000	0.22645	0.001000	0.17328	0.009000	0.08673	.	.	.	644	0.63734	.	.	.	.	.	rs138293383	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025	221.41	9	chr5	151288934	.	C	T	221.41	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.765;DP=186;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0307;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=24.60;ReadPosRankSum=0.549;SOR=0.859	GT:AD:DP:GQ:PL	0/0:10,0:10:27:0,27,405	19	0	1	1
chr5	151347296	151347296	C	T	splicing	SLC36A2	NM_181776:exon1:c.164+1G>A	.	.	Hyperglycinuria, Autosomal dominant;Iminoglycinuria, digenic, Autosomal recessive, Digenic recessive	.	0	1520	1	1	0	3	0.000985869	1.0000	0.936	17424	Hyperglycinuria|Iminoglycinuria	Human_Phenotype_Ontology:HP:0002931,Human_Phenotype_Ontology:HP:0003108,MONDO:MONDO:0007677,MedGen:C0543541,OMIM:138500|MONDO:MONDO:0009448,MedGen:C0268654,OMIM:242600,Orphanet:42062	no_assertion_criteria_provided	Affects	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.642	18.52	4.87	2.683	3.583	15.237	.	.	7.7e-05	.	4.119e-05	0	0.0002	0	0	2.997e-05	0	6.056e-05	3.23e-05	5	154602	rs371203963	3.831e-05	3.967e-05	4.084e-05	3.575e-05	0.0002	3.025e-05	2.719e-05	8.885e-05	7.053e-05	0	0.0001	0	0	0	0	3.058e-05	6.623e-05	0.0002	1.971e-05	1.97e-05	1.284e-05	2.69e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.412e-05	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274132	0.80807	D	0.381697	0.91491	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.507795	0.91651	32	0.99422278671681674	0.63838	0.96598	0.69945	D	AEFDBI	.	.	.	1.05633129377782	0.97236	15.79918	0.891193416178046	0.95177	13.38058	0.999623028671497	0.41093	0.095506	0.02484	0	0.059962	0.00310	0	0.104817	0.03109	0	0.058706	0.01089	0	0.978378	0.82485	4.87	4.87	0.62877	3.933000	0.56257	7.253000	0.57936	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.237	0.73134	875	0.30485	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1018.98	34	chr5	151347296	.	C	T	1018.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.77;DP=761;ExcessHet=0.0000;FS=0.906;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=2.07;SOR=0.823	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1069	20	0	1	0
chr5	151521333	151521333	C	T	exonic	FAT2	.	nonsynonymous SNV	FAT2:NM_001447:exon19:c.G11260A:p.A3754T,	.	.	434	1087	1	0	0	1	0.00045977	.	.	2804396	FAT2-related_disorder	.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.996	D	0.000	D	1.000	D	2.395	M	0.56	T	-0.156	T	0.489	T	0.703	4.738	26.4	5.99	2.840	5.975	20.478	0.248	0.0459389243967	.	.	6.623e-05	0	0.0003	0	0	6.012e-05	0	6.094e-05	5.82e-05	9	154602	rs756014540	3.421e-05	3.42e-05	3.948e-05	2.888e-05	0.0001	2.632e-05	2.375e-05	4.358e-05	2.767e-05	8.962e-05	0.0001	0	0	1.872e-05	0	3.328e-05	0	4.638e-05	3.285e-05	3.283e-05	1.285e-05	5.38e-05	0.0002	1.261e-05	7.98e-06	8e-06	2.99e-06	4.827e-05	0	0	0	0	9.413e-05	0	1.47e-05	0	0.0002	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000009	0.62929	D	0.000000	0.999977	0.53665	D	2.495	0.72670	M	0.56	0.54540	T	-2.43	0.53258	N	0.665	0.67391	-0.1556	0.78778	T	0.489	0.80550	T	10	0.6052849	0.67139	D	0.045939	0.62219	D	0.248	0.55615	0.353	0.35246	0.744494723672	0.74219	0.8735509601123914	0.87321	0.548968386645	0.51815	0.553411483765	0.46338	T	0.104343	0.41381	T	-0.0766959	0.40250	T	-0.0928989	0.63942	T	0.279899838625002	0.24167	T	0.874613	0.58533	D	0.35932797	0.57784	0.44567978	0.67708	0.35932797	0.57785	0.44567978	0.67708	-3.865	0.21779	T	.	.	0.355	0.56888	A	.	.	4.600499	0.72864	25.9	0.99914858296652209	0.98309	0.95800	0.66207	D	AEFBCI	0.710267	0.66409	D	0.544754666452635	0.69761	5.403396	0.611087229997147	0.75742	6.364948	0.999999999188163	0.74766	0.603402	0.35316	0	0.548873	0.16688	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.99	5.99	0.97299	6.096000	0.71091	5.898000	0.50850	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	20.478	0.99191	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1530.98	34	chr5	151521333	.	C	T	1530.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.631e+00;DP=813;ExcessHet=0.0000;FS=2.709;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.44;ReadPosRankSum=1.36;SOR=0.466	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1259	20	0	1	0
chr5	151543610	151543610	A	G	exonic	FAT2	.	nonsynonymous SNV	FAT2:NM_001447:exon10:c.T7517C:p.I2506T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.497	P	0.174	B	0.004	N	0.991	D	-1.595	N	0.92	T	-0.978	T	0.025	T	0.21	-1.394	0.024	4.53	0.988	4.474	9.438	0.133	0.0137062224107	.	.	1.648e-05	9.651e-05	0	0	0	0	0	6.056e-05	1.29e-05	2	154602	rs759400915	1.642e-05	1.71e-05	1.361e-05	1.925e-05	0.0002	1.111e-05	9.33e-06	0.0001	8.645e-05	5.974e-05	6.708e-05	0	0	0	0	2.698e-06	1.656e-05	0.0002	2.628e-05	2.627e-05	2.57e-05	2.69e-05	7.241e-05	8.14e-06	5.14e-06	1.92e-05	1.032e-05	7.241e-05	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	0.114	0.36765	T	0.497	0.37095	P	0.174	0.35540	B	0.003842	0.34414	N	0.251881	0.99131	0.41359	D	-1.82	0.00281	N	0.92	0.44461	T	0.76	0.01978	N	0.262	0.29659	-0.9781	0.35435	T	0.025	0.10509	T	10	0.23669773	0.40756	T	0.013706	0.33318	T	0.133	0.36157	0.538	0.64874	0.44153150616	0.43777	0.5444372415813742	0.54369	0.300255646818	0.32383	0.494179219007	0.38019	T	0.028026	0.20393	T	-0.418036	0.01761	T	-0.563957	0.16006	T	0.0860911714666592	0.10747	T	0.780822	0.41560	T	0.08248708	0.19004	0.09105929	0.21388	0.08248708	0.19003	0.09105929	0.21387	-1.618	0.02024	T	.	.	0.063	0.01534	B	.	.	2.243457	0.28652	17.87	0.25590593284812085	0.01187	0.83266	0.42397	D	AEFBCI	0.254072	0.37346	N	-0.452230417359406	0.23664	1.27238	-0.199448357376685	0.31558	1.787037	0.989879602468767	0.31962	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.7	4.53	0.55009	4.473000	0.59928	4.802000	0.44976	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.8573:0.0:0.1427:0.0	9.438	0.37814	891	0.26808	Cadherin-like|Cadherin-like	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2209.98	38	chr5	151543610	.	A	G	2209.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.47;DP=926;ExcessHet=0.0000;FS=0.565;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=-5.740e-01;SOR=0.764	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,117,1518	20	0	1	0
chr5	151563532	151563532	C	T	exonic	FAT2	.	nonsynonymous SNV	FAT2:NM_001447:exon3:c.G3367A:p.V1123I,	.	.	435	1084	2	1	0	4	0.00184162	.	.	3214847	FAT2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.27	T	0.827	P	0.399	B	0.001	N	1.000	D	1.34	L	0.23	T	-0.938	T	0.155	T	0.114	3.062	16.22	5.03	2.513	4.651	10.069	0.109	.	.	0.00199681	0.0010	0	0	0	0	4.496e-05	0	0.0071	0.0008861	137	154602	rs370598855	0.0004	0.0004	0.0003	0.0006	0.0067	0.0004	0.0004	0.0062	0.0061	2.987e-05	2.236e-05	0	0	0	0.0002	5.396e-06	0.0006	0.0067	0.0002	0.0002	0.0001	0.0003	0.0056	0.0001	0.0001	0.0040	0.0034	0	0	0	0	0	0	0	0	0.0009	0.0056	0.261	0.16520	T	0.237	0.24621	T	0.827	0.45966	P	0.399	0.44455	B	0.001229	0.39743	N	0.111367	0.999894	0.50595	D	1.905	0.50856	L	0.23	0.59717	T	-0.62	0.18248	N	0.238	0.26837	-0.9375	0.43010	T	0.155	0.48653	T	10	0.009363294	0.00211	T	.	.	.	0.109	0.30843	0.48	0.55983	0.667381685972	0.66457	0.27642236677095655	0.27555	0.296176561892	0.32004	0.355882287025	0.18784	T	0.072178	0.34391	T	-0.497094	0.00594	T	-0.483092	0.24118	T	0.0650132147436327	0.07933	T	0.781422	0.41649	T	0.065744154	0.14082	0.06776196	0.14062	0.065744154	0.14081	0.06776196	0.14061	-6.929	0.53514	T	.	.	0.086	0.10642	B	.	.	2.885932	0.38205	20.7	0.99700846322375436	0.80591	0.93590	0.58634	D	AEFDBI	0.418334	0.48601	N	0.333492564322779	0.57874	3.956693	0.402630669425897	0.61730	4.377132	0.999999999926571	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.478617	0.07155	0	.	.	5.03	5.03	0.67015	3.882000	0.55873	5.870000	0.50524	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8743:0.0:0.1257	10.069	0.41497	906	0.23090	Cadherin-like|Cadherin-like	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1851.98	37	chr5	151563532	.	C	T	1851.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.22;DP=954;ExcessHet=0.0000;FS=0.587;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=1.08;SOR=0.780	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,99,1484	20	0	1	0
chr5	151664129	151664129	T	G	exonic	SPARC	.	nonsynonymous SNV	SPARC:NM_001309443:exon9:c.A838C:p.I280L	Osteogenesis imperfecta, type XVII, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.238	B	0.637	P	0.000	D	1.000	D	2.08	M	1.52	T	-0.796	T	0.174	T	0.758	4.808	27.2	5.44	2.063	4.657	15.497	0.268	0.0593501709042	.	.	8.236e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs754806128	8.209e-06	8.209e-06	8.167e-06	8.25e-06	1.079e-05	4.38e-06	3.46e-06	5.75e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.011	0.64786	D	0.238	0.30817	B	0.637	0.51992	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.635	0.77114	M	1.52	0.30669	T	-1.75	0.41428	N	0.774	0.77132	-0.7962	0.55368	T	0.174	0.51753	T	10	0.8734653	0.86624	D	0.05935	0.67635	D	0.268	0.58254	0.812	0.92788	0.530035883213	0.52651	0.9249864486135364	0.92475	1.12556060977	0.78443	0.698362112045	0.66908	T	0.396241	0.75492	T	0.0719307	0.61084	D	-0.134453	0.60596	T	0.755108257362053	0.43572	D	0.907009	0.67171	D	0.7109513	0.78660	0.5374652	0.73271	0.7109513	0.78661	0.5374652	0.73271	-3.998	0.23774	T	0.1958746711537339	0.25855	0.382	0.58570	A	.	.	3.690736	0.52580	23.3	0.99417436796256164	0.63597	0.91509	0.53680	D	ALL	0.877315	0.80187	D	0.296938528489004	0.55994	3.763521	0.360471602509739	0.59142	4.089538	0.99999999999986	0.74766	0.706548	0.73137	0	0.685571	0.66316	0	0.724815	0.87919	0	0.591603	0.36755	0	.	.	5.44	5.44	0.79348	4.636000	0.61037	5.023000	0.46762	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	15.497	0.75391	879	0.29470	SPARC/Testican, calcium-binding domain|EF-Hand 1, calcium-binding site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	909.98	78	chr5	151664129	.	T	G	909.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.120e-01;DP=786;ExcessHet=0.0000;FS=0.857;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=-5.200e-01;SOR=0.717	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	20	0	1	0
chr5	154412977	154412977	G	A	exonic	GALNT10	.	nonsynonymous SNV	GALNT10:NM_198321:exon10:c.G1475A:p.R492H,	.	.	426	1095	1	0	0	1	0.000456413	.	.	2724919	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.997	D	0.947	D	0.189	N	1.000	D	2.28	M	0.55	T	-0.290	T	0.403	T	0.639	4.995	29.3	5.56	2.620	7.404	19.538	0.257	0.0309999774447	.	.	0.0002	0	0	0	0	3.047e-05	0.0011	0.0011	0.0001358	21	154602	rs779123658	6.714e-05	6.909e-05	3.409e-05	0.0001	0.0009	5.637e-05	5.18e-05	0.0008	0.0007	0	2.239e-05	0	2.52e-05	0	0	1.441e-05	0	0.0009	1.313e-05	1.312e-05	1.284e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.128	0.26965	T	0.142	0.33330	T	0.986	0.70673	D	0.744	0.68407	P	0.189475	0.16885	N	0.602245	0.999999	0.81001	D	2.17	0.60663	M	0.45	0.56446	T	-0.71	0.20576	N	0.528	0.56317	-0.2899	0.75268	T	0.403	0.75402	T	10	0.32587582	0.49892	T	0.031	0.53184	D	0.257	0.56827	0.602	0.73346	0.783585831049	0.78158	0.4686547982566862	0.46784	1.2823345532	0.82575	0.675482392311	0.63621	T	0.097103	0.39959	T	-0.218785	0.18160	T	-0.151801	0.59085	T	0.567749261856079	0.35149	D	0.932107	0.74696	D	0.14513431	0.33283	0.13032918	0.31318	0.14513431	0.33283	0.13032918	0.31317	-5.508	0.42499	T	.	.	0.084	0.09723	B	.;.	.;.	3.992665	0.58778	24.0	0.99945169702385406	0.99886	0.99258	0.93561	D	AEFBI	0.852837	0.76976	D	0.594864014857954	0.72851	5.871598	0.629847102010756	0.77116	6.618099	0.999999999999998	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.56	5.56	0.83678	6.204000	0.72071	6.387000	0.55552	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.488000	0.28746	0.0:0.0:1.0:0.0	19.538	0.95253	689	0.59000	Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	834.98	35	chr5	154412977	.	G	A	834.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.184;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.13;ReadPosRankSum=-5.750e-01;SOR=0.742	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr5	154755923	154755923	C	T	exonic	LARP1	.	nonsynonymous SNV	LARP1:NM_001367718:exon1:c.C166T:p.P56S	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.001	B	0.004	B	.	.	1.000	D	.	.	1.68	T	-1.082	T	0.042	T	0.165	3.772	19.15	2.51	1.407	1.610	7.357	0.026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.445	0.13140	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.68	0.27184	T	0.05	0.06369	N	.	.	-1.0822	0.06927	T	0.042	0.18118	T	8	0.10601449	0.19625	T	.	.	.	0.026	0.05648	0.284	0.24121	0.329044607051	0.32520	.	.	.	.	.	.	.	.	.	.	-0.201157	0.20637	T	-0.526725	0.19615	T	0.194967344403267	0.20134	T	0.49745	0.15470	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11461	B	.	.	2.270022	0.29014	17.99	0.99834063570379428	0.91542	0.33441	0.24829	N	ALL	0.116388	0.22845	N	-0.318288361788739	0.28453	1.569534	-0.256863676600807	0.29535	1.655521	0.999999999999622	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.581474	0.35302	0	.	.	2.51	2.51	0.29435	2.289000	0.43184	0.019000	0.13561	-0.386000	0.05369	0.026000	0.20160	0.192000	0.23504	0.866000	0.41154	0.0:0.7254:0.2746:0.0	7.357	0.25900	909	0.22467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	183.98	26	chr5	154755923	.	C	T	183.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.80;DP=506;ExcessHet=0.0000;FS=1.984;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.68;ReadPosRankSum=-2.110e-01;SOR=1.609	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,868	20	0	1	0
chr5	154813944	154813944	G	A	exonic	LARP1	.	nonsynonymous SNV	LARP1:NM_001367715:exon18:c.G2323A:p.G775S	.	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.003	B	0.008	N	0.991	N	0	N	2.03	T	-0.965	T	0.017	T	0.139	-1.772	0.010	-3.29	-0.633	-1.195	9.866	0.021	0.00550136075404	0.0002	0.000199681	0.0002	9.667e-05	0.0005	0	0	0.0003	0	6.058e-05	0.0001682	26	154602	rs372005840	0.0001	0.0001	8.712e-05	0.0001	0.0010	9.401e-05	8.883e-05	0.0005	0.0003	2.987e-05	0.0003	0	2.519e-05	0	0.0010	0.0001	0.0001	0.0002	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	9.701e-05	0.0002	0.0001	2.408e-05	0	0.0004	0	0	0	0.0034	0.0002	0	0.0004	1.0	0.00964	T	0.915	0.02917	T	0.001	0.07471	B	0.003	0.08700	B	0.008434	0.30846	N	0.313898	0.991139	0.24077	N	.	.	.	2.03	0.20959	T	2.08	0.00371	N	0.13	0.12484	-0.9646	0.38290	T	0.017	0.07140	T	10	0.008248866	0.00187	T	0.005501	0.14166	T	0.021	0.04004	.	.	0.128874641272	0.12493	0.09191076215432191	0.09124	0.616218046661	0.56088	0.302774041891	0.10816	T	.	.	.	-0.508936	0.00509	T	-0.671269	0.07527	T	0.0131861630116676	0.00233	T	0.622938	0.23989	T	.	.	.	.	.	.	.	.	-5.155	0.38481	T	.	.	0.077	0.06433	B	.	.	0.101136	0.05025	1.576	0.75951104720382223	0.11275	0.10434	0.15942	N	AEFDBCI	0.038733	0.05523	N	-1.48451589208876	0.01959	0.08601404	-1.46429508758941	0.02643	0.1219341	0.999997591487224	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	3.71	-3.29	0.04706	-1.210000	0.03109	-1.458000	0.05393	-0.272000	0.06708	0.079000	0.22314	0.000000	0.08366	0.960000	0.51673	0.3875:0.0:0.6125:0.0	9.866	0.40309	903	0.23940	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	991.98	89	chr5	154813944	.	G	A	991.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.459;DP=799;ExcessHet=0.0000;FS=4.223;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=1.12;SOR=0.356	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1479	20	0	1	0
chr5	154822476	154822476	T	A	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon7:c.A674T:p.H225L,	.	.	431	1081	10	0	0	10	0.00460405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.616	P	0.574	P	0.000	D	1.000	D	2.515	M	-1.66	D	0.032	D	0.600	D	0.879	3.619	18.42	5.27	1.992	7.668	14.387	0.696	0.282253165996	8.2e-05	0.00159744	0.0009	0.0002	8.639e-05	0	0.0003	0.0003	0.0011	0.0050	0.0007762	120	154602	rs199868107	0.0006	0.0006	0.0004	0.0007	0.0054	0.0005	0.0005	0.0050	0.0049	0	0.0004	0	0	1.872e-05	0.0052	0.0002	0.0005	0.0054	0.0005	0.0005	0.0003	0.0006	0.0052	0.0004	0.0004	0.0036	0.0031	7.215e-05	0	0.0018	0	0	9.413e-05	0	0.0002	0.0005	0.0052	0.001	0.78490	D	0.003	0.76473	D	0.616	0.39820	P	0.574	0.49998	P	0.000000	0.84330	D	0.090003	1	0.81001	D	2.595	0.75868	M	-1.66	0.82715	D	-9.39	0.98373	D	0.906	0.91162	0.032	0.82888	D	0.600	0.85766	D	10	0.1042999	0.19222	T	0.282253	0.90273	D	0.696	0.89007	.	.	0.516884031612	0.51331	0.8477747922481085	0.84738	0.733661856495	0.62852	0.611201703548	0.54486	T	0.408201	0.76360	T	0.0614222	0.59791	T	0.315856	0.88917	D	0.345327526330948	0.26835	T	0.882812	0.65732	D	0.82542175	0.85587	0.7145852	0.83156	0.82542175	0.85589	0.7145852	0.83157	-10.014	0.73996	D	.	.	0.361	0.57829	A	.;.	.;.	4.283971	0.65277	24.8	0.96930404852154828	0.31656	0.94243	0.60550	D	AEFDBCI	0.958999	0.97910	D	0.215385357102416	0.51946	3.371953	0.193629074390948	0.49497	3.152173	0.999999999998538	0.74766	0.660377	0.49826	0	0.446627	0.06534	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	5.27	5.27	0.73797	7.650000	0.82668	3.376000	0.37968	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.113000	0.18872	0.0:0.0:0.0:1.0	14.387	0.66519	894	0.26265	Fatty acid hydroxylase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	713.98	33	chr5	154822476	.	T	A	713.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.00;DP=763;ExcessHet=0.0000;FS=5.062;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=-3.030e-01;SOR=1.300	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1160	20	0	1	0
chr5	154834880	154834880	G	C	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon3:c.C103G:p.L35V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.741	P	0.178	B	0.000	D	1.000	D	2	M	0.11	T	-0.790	T	0.177	T	0.375	3.984	20.4	5.18	1.567	5.717	15.162	0.128	0.0225774624919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.51e-05	8.073e-05	1.775e-05	1.243e-05	5.991e-05	9.89e-06	8.44e-06	1.015e-05	8.37e-06	5.991e-05	0	0	0	0	0	1.624e-05	3.321e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.22660	T	0.192	0.28300	T	0.741	0.42992	P	0.178	0.35748	B	0.000062	0.52346	D	0.127254	0.999577	0.47641	D	2.33	0.66821	M	0.11	0.61208	T	-1.43	0.42575	N	0.476	0.55280	-0.7898	0.55741	T	0.177	0.52272	T	10	0.3608216	0.52717	T	0.022577	0.45482	T	0.128	0.35103	0.368	0.37687	0.50685403127	0.50322	0.5472392752767269	0.54649	0.565306047963	0.52874	0.427203059196	0.28826	T	0.006447	0.05881	T	-0.0350922	0.46673	T	-0.288184	0.45962	T	0.975553870201111	0.70985	D	0.824718	0.55237	T	0.1653164	0.36795	0.16677296	0.38511	0.1653164	0.36795	0.16677296	0.38510	-4.327	0.28554	T	.	.	0.122	0.45149	B	.;.;.;.;.	.;.;.;.;.	3.205176	0.43602	21.8	0.99783212881991934	0.86955	0.93639	0.58770	D	AEFDGBHCI	0.839166	0.75660	D	0.282525933287588	0.55260	3.690427	0.346314316601126	0.58285	3.998306	0.999999999999752	0.74766	0.536635	0.22144	0	0.546412	0.12157	0	0.489635	0.07774	0	0.322989	0.05693	1	.	.	6.04	5.18	0.71140	4.974000	0.63486	8.428000	0.77165	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0681:0.0:0.9319:0.0	15.162	0.72472	879	0.29470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	2160.86	127	chr5	154834880	.	G	C	2160.86	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-3.995e+00;DP=2921;ExcessHet=17.4423;FS=258.744;InbreedingCoeff=-0.5414;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=1.13;ReadPosRankSum=0.501;SOR=12.076	GT:AD:DP:GQ:PL	0/0:116,0:116:11:0,11,2407	6	0	15	0
chr5	154917072	154917072	G	C	exonic	GEMIN5	.	nonsynonymous SNV	GEMIN5:NM_001252156:exon13:c.C1778G:p.P593R	.	.	431	1087	4	0	0	4	0.00183655	.	.	2825472	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	1.7	L	-0.76	T	0.086	D	0.521	D	0.626	3.992	20.4	5.08	1.520	6.130	15.002	0.401	0.0795522734574	0.0028	0.000998403	0.0026	0.0012	0.0009	0.0001	0.0014	0.0035	0.0022	0.0029	0.0024385	377	154602	rs142530738	0.0033	0.0033	0.0033	0.0033	0.0037	0.0032	0.0032	0.0036	0.0035	0.0004	0.0011	0.0058	0.0001	0.0018	0.0023	0.0037	0.0031	0.0031	0.0021	0.0021	0.0023	0.0019	0.0029	0.0019	0.0018	0.0026	0.0025	0.0007	0	0.0029	0.0058	0	0.0013	0	0.0029	0.0028	0.0010	0.015	0.52492	D	0.02	0.58613	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999971	0.53665	D	1.905	0.50856	L	-0.76	0.73417	T	-4.7	0.79829	D	0.492	0.52563	0.086	0.83917	D	0.521	0.82110	D	10	0.013405383	0.00284	T	0.079552	0.73260	D	0.401	0.71479	.	.	0.85813251465	0.85676	0.5380153124538929	0.53726	0.43770971806	0.43814	0.546659111977	0.45386	T	0.170664	0.51849	T	-0.220047	0.17986	T	-0.0912802	0.64065	T	0.0155009347057922	0.00350	T	0.827017	0.49049	T	0.6690375	0.76381	0.32615092	0.58524	0.6690375	0.76382	0.32615092	0.58523	-12.122	0.85440	D	.	.	0.130	0.27791	B	.	.	4.662185	0.74425	26.2	0.99829653782715055	0.91112	0.92897	0.56815	D	AEFDBHCI	0.746158	0.68861	D	0.656795516520746	0.76809	6.555502	0.649985530509611	0.78608	6.910906	0.999999778201974	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	5.08	0.68373	6.229000	0.72245	9.853000	0.82002	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.068:0.0:0.932:0.0	15.002	0.71140	873	0.30802	WD40-repeat-containing domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	533.98	34	chr5	154917072	.	G	C	533.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.290e-01;DP=741;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=0.053;SOR=0.751	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,971	20	0	1	0
chr5	156344500	156344500	G	C	exonic	SGCD	.	nonsynonymous SNV	SGCD:NM_001128209:exon2:c.G12C:p.E4D	Cardiomyopathy, dilated, 1L;Muscular dystrophy, limb-girdle, type 2F, Autosomal recessive	.	5	1505	11	1	0	13	0.00430036	.	.	198172	Qualitative_or_quantitative_defects_of_delta-sarcoglycan|Dilated_cardiomyopathy_1L|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2F|Limb-girdle_muscular_dystrophy,_recessive|not_specified|not_provided|Cardiomyopathy	MONDO:MONDO:0016144,MedGen:C5680806,Orphanet:207070|MONDO:MONDO:0011702,MedGen:C1847667,OMIM:606685,Orphanet:154|MONDO:MONDO:0011028,MedGen:C1832525,OMIM:601287,Orphanet:219|MedGen:CN239352|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.02	B	0.016	B	0.000	N	0.998	D	1.905	M	1.14	T	-0.474	T	0.533	D	0.196	3.589	18.28	-1.12	-0.431	0.897	7.297	0.160	0.0782502711277	.	0.00139776	0.0014	0	8.643e-05	0	0	0.0003	0	0.0090	0.0011772	182	154602	rs549319429	0.0005	0.0005	0.0003	0.0007	0.0071	0.0005	0.0005	0.0066	0.0064	3.077e-05	0.0001	0	2.61e-05	0	0.0014	0.0001	0.0005	0.0071	0.0002	0.0002	0.0002	0.0003	0.0063	0.0002	0.0002	0.0045	0.0039	0	0	6.553e-05	0	0	0	0	7.353e-05	0	0.0063	0.011	0.91255	D	0.02	0.58613	D	0.02	0.18235	B	0.016	0.17743	B	0.000005	0.62929	N	0.104427	0.998174	0.44592	D	2.235	0.63160	M	1.14	0.88533	T	-1.15	0.32387	N	0.473	0.51761	-0.4738	0.69591	T	0.533	0.82694	D	10	0.010187924	0.00228	T	0.07825	0.72961	D	0.160	0.41473	0.171	0.07655	0.483962474653	0.48027	0.5954827068444493	0.59478	0.540378755442	0.51234	0.639851212502	0.58542	T	0.463365	0.79935	T	-0.343514	0.05148	T	-0.260802	0.48744	T	0.0465784911653996	0.04890	T	0.782522	0.45852	T	0.36875156	0.58492	0.2365997	0.48936	0.37244776	0.58766	0.2938531	0.55413	-4.455	0.32260	T	.	.	0.215	0.44449	B	.;.;.	.;.;.	2.454236	0.31607	18.79	0.99589956897968557	0.73572	0.80968	0.40474	D	AEFBI	0.319294	0.42273	N	-0.730608938275205	0.15165	0.7619006	-0.635692617246157	0.18578	0.9930863	0.00502004566095664	0.10797	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.59	-1.12	0.09306	0.893000	0.27970	0.151000	0.15292	-0.644000	0.04415	0.999000	0.42656	0.200000	0.23563	0.983000	0.59808	0.5805:0.109:0.3105:0.0	7.297	0.25571	812	0.42537	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	935.98	34	chr5	156344500	.	G	C	935.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.333e+00;DP=761;ExcessHet=0.0000;FS=1.041;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.40;ReadPosRankSum=0.895;SOR=0.510	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1237	20	0	1	0
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	114730.68	413	chr5	157052557	.	C	*,CGTT	114730.68	.	AC=31,10;AF=0.738,0.238;AN=42;DP=11099;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=31,10;MLEAF=0.738,0.238;MQ=60.00;QD=11.64;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,516,0:516:99:.:.:22950,1562,0,22950,1562,22950	0	12	1	0
chr5	157098893	157098893	G	A	exonic	HAVCR2	.	stopgain	HAVCR2:NM_032782:exon4:c.C487T:p.Q163X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	.	.	.	.	0.486	N	1.000	A	.	.	.	.	.	.	.	.	.	7.133	38	3.17	0.734	0.604	10.811	.	.	.	.	5.775e-05	0	0	0	0	0.0001	0	0	6.47e-05	10	154602	rs778542518	7.051e-05	7.114e-05	6.539e-05	7.568e-05	0.0003	5.918e-05	5.526e-05	6.964e-05	6.459e-05	0	2.238e-05	3.829e-05	0	0	0.0003	8.369e-05	9.939e-05	0	6.574e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.486312	0.12107	N	0.714208	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.866	0.86297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426497	0.91352	D	0.566539	0.96104	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	6.929229	0.95926	35	0.9899991621150146	0.50127	0.70579	0.34649	D	AEFI	0.122536	0.23772	N	0.320487834574937	0.57202	3.886603	0.102419210657952	0.44671	2.744433	0.949750381762206	0.27861	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.01	3.17	0.35510	0.621000	0.24112	2.759000	0.34591	-0.174000	0.10959	0.985000	0.35982	0.985000	0.30750	0.278000	0.23967	0.0:0.0:0.6554:0.3446	10.811	0.45747	599	0.68140	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	563.98	34	chr5	157098893	.	G	A	563.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.410e-01;DP=683;ExcessHet=0.0000;FS=1.022;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.72;ReadPosRankSum=-2.580e-01;SOR=0.520	GT:AD:DP:GQ:PL	0/0:21,0:21:63:0,63,655	20	0	1	0
chr5	157139217	157139217	A	T	exonic	MED7	.	nonsynonymous SNV	MED7:NM_001100816:exon2:c.T215A:p.F72Y	.	.	424	1094	4	0	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	0.02	B	0.05	B	0.000	D	1.000	D	0.75	N	.	.	-1.034	T	0.114	T	0.626	2.439	14.11	4.75	1.070	9.058	11.779	0.204	0.00295358484609	.	.	0.0002	0	0.0003	0	0	3.001e-05	0	0.0009	0.0001294	20	154602	rs748521096	6.984e-05	6.977e-05	4.497e-05	9.496e-05	0.0008	5.852e-05	5.462e-05	0.0007	0.0006	0	6.763e-05	3.839e-05	0	0	0.0005	2.069e-05	4.973e-05	0.0008	2.627e-05	2.626e-05	0	5.377e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.981e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.234	0.18061	T	0.479	0.11933	T	0.02	0.18235	B	0.05	0.25278	B	0.000000	0.84330	D	0.048339	1	0.81001	D	0.275	0.09989	N	.	.	.	-0.65	0.18877	N	0.539	0.58287	-1.0345	0.19014	T	0.114	0.40513	T	9	0.09953117	0.18069	T	0.002954	0.06280	T	0.204	0.49076	0.555	0.67271	0.730203931639	0.72780	0.8136872817859093	0.81324	0.461233858112	0.45668	0.89998459816	0.96439	D	0.072826	0.34548	T	-0.193217	0.21786	T	-0.130846	0.60901	T	0.0711310186614211	0.08808	T	0.847215	0.52823	T	0.14236706	0.32765	0.07699407	0.17110	0.14236706	0.32765	0.07699407	0.17109	-3.612	0.18031	T	.	.	0.285	0.51832	B	.;.;.	.;.;.	3.004944	0.40166	21.1	0.93829404113450843	0.23815	0.98713	0.85906	D	AEFBI	0.886896	0.81868	D	-0.165214456695892	0.34589	1.976161	0.0579460320568165	0.42457	2.568372	0.999999996353939	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.91	4.75	0.59954	9.050000	0.93297	9.238000	0.79403	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.932:0.0:0.068:0.0	11.779	0.51274	643	0.63827	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1801.98	34	chr5	157139217	.	A	T	1801.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.439;DP=836;ExcessHet=0.0000;FS=2.132;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=0.013;SOR=0.829	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1468	20	0	1	0
chr5	157162863	157162863	G	A	exonic	FAM71B	.	nonsynonymous SNV	FAM71B:NM_130899:exon2:c.C1402T:p.R468W,	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.655	P	0.076	B	0.002	N	1.000	D	2.395	M	2.09	T	-0.916	T	0.052	T	0.575	2.358	13.84	3.76	1.241	0.203	10.797	0.153	0.00882769891409	0.0003	0.000199681	0.0005	0	0.0002	0.0001	0.0003	0.0005	0.0011	0.0018	0.0004592	71	154602	rs201705403	0.0003	0.0003	0.0003	0.0004	0.0018	0.0003	0.0003	0.0015	0.0014	2.987e-05	0.0002	0	0.0003	9.363e-05	0	0.0003	0.0002	0.0018	0.0002	0.0002	0.0001	0.0003	0.0012	0.0001	0.0001	0.0005	0.0004	2.407e-05	0	6.538e-05	0	0	9.427e-05	0	0.0003	0	0.0012	0.03	0.45393	D	0.006	0.70582	D	0.655	0.40811	P	0.076	0.28435	B	0.001985	0.37503	N	0.000000	0.648995	0.32946	D	2.14	0.59869	M	2.09	0.20122	T	-5.14	0.83292	D	0.161	0.16864	-0.9165	0.46024	T	0.052	0.22269	T	10	0.026213408	0.00793	T	0.008828	0.23294	T	0.153	0.40148	.	.	0.0806252709748	0.07271	0.07718418315167365	0.07654	0.111349494379	0.12561	0.255142837763	0.04329	T	0.079583	0.36163	T	-0.442311	0.01253	T	-0.421356	0.30919	T	0.0868508181773507	0.10840	T	0.705629	0.31596	T	0.12238805	0.28760	0.16324688	0.37879	0.12238805	0.28760	0.16324688	0.37878	-8.12	0.61886	D	.	.	0.096	0.15296	B	.	.	1.900757	0.24143	16.29	0.98985148102138421	0.49821	0.60793	0.31297	D	AEFBI	0.253025	0.37260	N	-0.0581894020245627	0.39236	2.310644	-0.0869836519490068	0.35927	2.084464	0.159588353195494	0.17572	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.64	3.76	0.42368	0.338000	0.19599	-0.100000	0.11953	0.676000	0.76740	0.971000	0.34370	0.000000	0.08366	0.012000	0.09680	0.0:0.0:0.8103:0.1897	10.797	0.45668	558	0.71484	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1641.98	41	chr5	157162863	.	G	A	1641.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.180e-01;DP=1105;ExcessHet=0.0000;FS=3.259;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=1.45;SOR=0.446	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,102,1530	20	0	1	0
chr5	157162926	157162926	G	A	exonic	FAM71B	.	nonsynonymous SNV	FAM71B:NM_130899:exon2:c.C1339T:p.R447C,	.	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.642	P	0.517	N	1.000	D	2.005	M	2.15	T	-1.071	T	0.051	T	0.094	3.208	16.74	3.76	1.241	1.831	10.797	0.150	.	0.0068	0.00638978	0.0035	0.0164	0.0006	0.0007	0.0011	0.0001	0	0.0135	0.0030401	470	154602	rs115938677	0.0013	0.0013	0.0010	0.0017	0.0154	0.0013	0.0013	0.0143	0.0139	0.0154	0.0007	0	0.0001	0.0006	0.0028	8.004e-05	0.0013	0.0139	0.0052	0.0053	0.0053	0.0052	0.0169	0.0049	0.0048	0.0159	0.0155	0.0169	0	0.0009	0	0	0.0003	0.0034	0.0002	0.0038	0.0116	0.001	0.78490	D	0.004	0.74150	D	0.997	0.70673	D	0.642	0.52168	P	0.517312	0.05182	N	1.354870	0.927243	0.36859	D	2.72	0.79541	M	2.15	0.19311	T	-4.97	0.82063	D	0.131	0.12627	-1.0707	0.09260	T	0.051	0.21883	T	10	0.0038262606	0.00072	T	.	.	.	0.150	0.39571	.	.	0.143124449307	0.13826	0.06575553279540185	0.06514	0.385115291346	0.39804	0.171306908131	0.00037	T	0.123464	0.44785	T	-0.576277	0.00203	T	-0.586279	0.13990	T	0.0381790168379952	0.03364	T	0.663034	0.27207	T	0.23702444	0.46560	0.23091571	0.48207	0.23702444	0.46560	0.23091571	0.48206	-7.235	0.55732	T	.	.	0.121	0.25166	B	.	.	3.991561	0.58755	24.0	0.9984306206355853	0.92316	0.74909	0.36657	D	AEFBI	0.121962	0.23688	N	0.195048601742837	0.50960	3.281317	0.0940322503795616	0.44247	2.710234	0.159588353195494	0.17572	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.64	3.76	0.42368	1.393000	0.34106	3.494000	0.38734	0.676000	0.76740	0.907000	0.31601	0.998000	0.33993	0.368000	0.26066	0.0:0.0:0.8103:0.1897	10.797	0.45668	555	0.71762	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2027.98	41	chr5	157162926	.	G	A	2027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.00;DP=1139;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.60;ReadPosRankSum=1.19;SOR=0.672	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,102,1530	20	0	1	0
chr5	157333408	157333408	A	G	exonic	CYFIP2	.	nonsynonymous SNV	CYFIP2:NM_001291721:exon20:c.A2269G:p.I757V	.	.	427	1079	16	0	0	16	0.00735971	.	.	1154979	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.09	T	0.989	D	0.938	D	0.000	D	1.000	D	2.27	M	1.65	T	-0.850	T	0.144	T	0.741	5.027	29.7	5.91	2.254	9.288	16.348	0.194	0.011330762991	0.0046	0.00219649	0.0043	0.0015	0.0031	0	0.0003	0.0058	0.0067	0.0044	0.0042884	663	154602	rs139353471	0.0054	0.0054	0.0053	0.0054	0.0061	0.0053	0.0052	0.0060	0.0059	0.0010	0.0033	0.0039	2.519e-05	0.0005	0.0050	0.0061	0.0056	0.0049	0.0037	0.0037	0.0042	0.0031	0.0062	0.0034	0.0033	0.0057	0.0055	0.0011	0.0044	0.0029	0.0029	0	0.0002	0.0068	0.0062	0.0043	0.0033	0.034	0.44358	D	0.04	0.51112	D	0.126	0.62824	B	0.391	0.67350	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.59	0.40313	L	1.65	0.27650	T	-0.9	0.24244	N	0.456	0.51761	-0.8495	0.52003	T	0.144	0.46605	T	10	0.01004681	0.00225	T	0.011331	0.28845	T	0.194	0.47447	.	.	0.47764994848	0.47394	0.7055049682725005	0.70492	1.21500097909	0.80935	0.663239479065	0.61873	T	0.133247	0.46381	T	-0.256503	0.13312	T	-0.130838	0.60901	T	0.0366169381100496	0.03088	T	0.978302	0.92360	D	0.22080095	0.44643	0.27465183	0.53395	0.1473502	0.33688	0.30521056	0.56548	-7.346	0.56522	T	.	.	0.094	0.17232	B	.;.;.;.;.;.	.;.;.;.;.;.	3.853875	0.55844	23.7	0.9992115614483148	0.98787	0.98867	0.87911	D	AEFBI	0.924380	0.90230	D	0.634335483216014	0.75357	6.291878	0.694591455599074	0.81966	7.652217	0.999999999948807	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.645665	0.59343	0	.	.	5.91	5.91	0.95240	9.274000	0.94942	11.259000	0.91010	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.348	0.83004	777	0.48198	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2794.11	34	chr5	157333408	.	A	G	2794.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.12;DP=900;ExcessHet=0.1072;FS=0.999;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.74;ReadPosRankSum=-3.200e-02;SOR=0.798	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	19	0	2	0
chr5	157488315	157488315	G	C	exonic	ADAM19	.	nonsynonymous SNV	ADAM19:NM_033274:exon21:c.C2500G:p.P834A,	.	.	423	1079	19	1	0	21	0.00963745	.	.	721355	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.82	T	0.884	P	0.334	B	0.001	N	0.986	D	1.04	L	4.9	T	-0.644	T	0.004	T	0.318	2.179	13.24	5.69	2.688	1.646	12.612	0.085	0.020230905109	0.0048	0.00279553	0.0048	0.0017	0.0035	0	0.0005	0.0066	0.0067	0.0045	0.0050064	774	154602	rs11466803	0.0065	0.0065	0.0065	0.0065	0.0074	0.0064	0.0063	0.0073	0.0072	0.0012	0.0040	0.0039	2.519e-05	0.0006	0.0049	0.0074	0.0067	0.0051	0.0042	0.0042	0.0046	0.0037	0.0070	0.0039	0.0038	0.0065	0.0063	0.0013	0.0044	0.0040	0.0029	0.0002	0.0003	0.0068	0.0070	0.0052	0.0033	0.475	0.09896	T	0.237	0.31833	T	0.884	0.48618	P	0.301	0.41090	B	0.001106	0.40219	N	0.178465	0.986437	0.40431	D	1.905	0.50856	L	4.88	0.01459	T	-0.9	0.32991	N	0.305	0.38129	-0.6444	0.62957	T	0.004	0.01261	T	10	0.006568253	0.00149	T	0.020231	0.42781	T	0.085	0.24743	.	.	0.554640639675	0.55122	0.09056899518242394	0.08989	0.0720572644519	0.08078	0.380324423313	0.22302	T	0.054484	0.29737	T	-0.50803	0.00515	T	-0.492139	0.23166	T	0.0255115325970825	0.01340	T	0.734827	0.35112	T	0.057618104	0.11489	0.059582334	0.11206	0.057618104	0.11488	0.059582334	0.11206	-4.708	0.33501	T	.	.	0.066	0.03849	B	.;.	.;.	3.365715	0.46485	22.3	0.99301255362280227	0.58650	0.81023	0.40517	D	AEFBI	0.163862	0.29019	N	-0.117450378270477	0.36632	2.120105	0.0181788959327859	0.40559	2.422509	0.999988116002192	0.51787	0.732398	0.92422	0	0.698795	0.70079	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.69	5.69	0.88346	1.740000	0.37852	11.752000	0.95431	0.618000	0.50648	0.971000	0.34370	1.000000	0.68203	0.749000	0.35751	0.0:0.0:0.7923:0.2077	12.612	0.55915	802	0.44336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2155.11	33	chr5	157488315	.	G	C	2155.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.108;DP=833;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=-5.020e-01;SOR=0.711	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1053	19	0	2	0
chr5	157564437	157564437	G	A	exonic	ADAM19	.	nonsynonymous SNV	ADAM19:NM_033274:exon3:c.C187T:p.L63F,	.	.	414	1102	6	0	0	6	0.00271493	.	.	2825493	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.01	B	0.007	B	0.102	N	1.000	N	1.87	L	3.39	T	-1.007	T	0.013	T	0.164	2.156	13.17	2.6	0.222	1.752	4.457	0.035	.	0.0040	0.00179712	0.0047	0.0014	0.0022	0	0.0115	0.0060	0.0022	0.0035	0.0047089	728	154602	rs61753548	0.0050	0.0050	0.0050	0.0049	0.0054	0.0049	0.0048	0.0053	0.0052	0.0010	0.0023	3.826e-05	2.519e-05	0.0118	0.0019	0.0054	0.0039	0.0033	0.0039	0.0039	0.0034	0.0044	0.0050	0.0036	0.0035	0.0046	0.0044	0.0009	0.0088	0.0021	0	0	0.0138	0	0.0050	0.0071	0.0023	0.059	0.37536	T	0.057	0.46406	T	0.01	0.15535	B	0.007	0.12992	B	0.101501	0.19837	N	0.421219	1	0.81001	D	2.075	0.57047	M	3.39	0.05710	T	-0.99	0.26200	N	0.201	0.22228	-1.0066	0.27973	T	0.013	0.04985	T	10	0.0060758293	0.00137	T	.	.	.	0.035	0.08770	.	.	0.410204130746	0.40637	0.4576780168542589	0.45685	0.562753681363	0.52734	0.301738142967	0.10659	T	0.043535	0.26531	T	-0.539509	0.00337	T	-0.541771	0.18124	T	0.0162177294461319	0.00395	T	0.49655	0.17058	T	0.03957926	0.05492	0.04824578	0.07126	0.03957926	0.05492	0.04824578	0.07126	-3.55	0.17338	T	.	.	0.075	0.06710	B	.;.	.;.	1.966598	0.24982	16.60	0.9926961293427693	0.57491	0.68287	0.33745	D	ALL	0.117602	0.23031	N	-0.393836682103267	0.25688	1.396303	-0.272667122700432	0.29003	1.621472	0.999999381641573	0.74766	0.730579	0.87903	0	0.615513	0.52658	0	0.658983	0.55881	0	0.648885	0.59868	0	.	.	5.52	2.6	0.30173	1.590000	0.36264	3.240000	0.36960	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1962:0.0:0.6308:0.1731	4.457	0.11068	872	0.31118	.;Peptidase M12B, propeptide	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1159.98	35	chr5	157564437	.	G	A	1159.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.630e-01;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=-1.652e+00;SOR=0.619	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1193	20	0	1	0
chr5	157626602	157626602	T	C	exonic	SOX30	.	nonsynonymous SNV	SOX30:NM_178424:exon5:c.A2000G:p.N667S	.	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.988	D	0.696	P	0.000	D	1.000	D	0.695	N	-4.54	D	0.763	D	0.813	D	0.056	2.953	15.84	4.39	1.040	2.660	10.586	0.445	0.25364775946	0.0021	0.00179712	0.0024	0.0012	0.0029	0	0.0008	0.0034	0.0055	0.0005	0.0023738	367	154602	rs142156325	0.0023	0.0023	0.0023	0.0024	0.0113	0.0022	0.0022	0.0091	0.0083	0.0007	0.0022	0.0067	0	0.0006	0.0113	0.0025	0.0030	0.0010	0.0022	0.0022	0.0021	0.0022	0.0033	0.0020	0.0019	0.0026	0.0025	0.0009	0	0.0033	0.0049	0.0002	0.0005	0.0170	0.0029	0.0061	0.0008	0.052	0.40573	T	0.004	0.74150	D	0.988	0.62325	D	0.696	0.54017	P	0.000285	0.46274	D	0.093611	0.502721	0.81001	D	0.975	0.24501	L	-4.54	0.98035	D	-0.98	0.25986	N	0.199	0.21969	0.763	0.93959	D	0.813	0.93694	D	10	0.008012384	0.00182	T	0.253648	0.89220	D	0.445	0.74727	.	.	0.855231433708	0.85383	0.3440589127057706	0.34319	.	.	0.406170248985	0.25927	T	0.01832	0.14790	T	-0.327004	0.06340	T	-0.245546	0.50257	T	0.0241507880921968	0.01164	T	0.854615	0.55864	D	0.06342702	0.13353	0.08885231	0.20743	0.06342702	0.13353	0.08885231	0.20743	-2.748	0.07715	T	0.18324159567197426	0.23712	0.122	0.35663	B	.;.	.;.	2.724808	0.35650	19.95	0.99758519951031543	0.84851	0.84611	0.43695	D	AEFBI	0.296492	0.40632	N	0.0544270289902966	0.44347	2.710382	0.11418689255694	0.45274	2.793434	0.491236541793476	0.20865	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.56	4.39	0.52211	2.639000	0.46236	5.079000	0.47249	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0733:0.0:0.9267	10.586	0.44474	829	0.39537	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1436.98	33	chr5	157626602	.	T	C	1436.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.926e+00;DP=785;ExcessHet=0.0000;FS=4.089;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.62;ReadPosRankSum=-2.610e-01;SOR=0.387	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1022	20	0	1	0
chr5	157743959	157743964	GCGGGC	-	exonic	LSM11	.	nonframeshift deletion	LSM11:NM_173491:exon1:c.209_214del:p.G75_R76del,	.	.	411	1097	11	1	2	15	0.00589035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	.	8.918e-05	0	0.0004	0	0	0.0001	0	0	0.0001921	5	26028	rs746823463	0.0003	0.0004	0.0004	0.0003	0.0016	0.0003	0.0003	0.0007	0.0005	0.0008	0.0004	0.0003	0.0001	6.509e-05	0.0016	0.0004	0.0004	7.507e-05	0.0003	0.0003	0.0002	0.0004	0.0005	0.0003	0.0002	0.0003	0.0003	0.0001	0	0.0004	0.0009	0	0	0.0034	0.0005	0.0010	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1438.94	35	chr5	157743958	.	GGCGGGC	G	1438.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=823;ExcessHet=0.0000;FS=4.275;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.93;ReadPosRankSum=-9.780e-01;SOR=0.352	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr5	159161427	159161427	T	C	exonic	RNF145	.	nonsynonymous SNV	RNF145:NM_001199380:exon10:c.A1555G:p.I519V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.108	B	0.097	B	0.000	D	1.000	D	-1.295	N	-1.02	T	-0.786	T	0.155	T	0.597	2.173	13.22	5.78	2.210	7.930	16.109	0.348	0.0321084093921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.689	0.53172	T	1.0	0.01155	T	0.069	0.26116	B	0.057	0.30390	B	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.6	0.02229	N	-1.04	0.78427	T	-0.02	0.19085	N	0.487	0.54671	-0.7862	0.55950	T	0.155	0.48687	T	10	0.22028938	0.38722	T	0.032108	0.54021	D	0.348	0.66956	0.381	0.39807	0.848737276254	0.84728	0.5429635205572487	0.54221	1.5713921237	0.88187	0.809239268303	0.83376	D	0.025021	0.18789	T	0.0879092	0.62953	D	-0.111501	0.62491	T	0.599808037281036	0.36392	D	0.910909	0.68443	D	0.08185151	0.18826	0.14571664	0.34550	0.08185151	0.18826	0.14571664	0.34549	-4.068	0.29557	T	.	.	0.428	0.63300	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.659358	0.34646	19.68	0.97983499804003948	0.37341	0.94498	0.61359	D	AEFDBHCI	0.933662	0.92588	D	-0.253708838070544	0.30955	1.731042	0.0519839670437108	0.42167	2.54587	0.999999999999995	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	7.908000	0.86831	7.797000	0.69042	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.109	0.81055	893	0.26510	.;TRC8 N-terminal domain;TRC8 N-terminal domain;TRC8 N-terminal domain;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	63.82	96	chr5	159161427	.	T	C	63.82	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-3.326e+00;DP=1394;ExcessHet=0.1128;FS=106.775;InbreedingCoeff=-0.0524;MLEAC=2;MLEAF=0.050;MQ=60.00;MQRankSum=0.00;QD=0.25;ReadPosRankSum=0.855;SOR=9.855	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1110	18	0	2	1
chr5	159320467	159320467	C	G	exonic	IL12B	.	nonsynonymous SNV	IL12B:NM_002187:exon5:c.G536C:p.R179T,	Immunodeficiency 29, mycobacteriosis, Autosomal recessive	.	2	1519	1	0	0	1	0.000329056	.	.	302790	Inborn_genetic_diseases|Mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_IL12B_deficiency	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013954,MedGen:C4013948,OMIM:614890,Orphanet:319558	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.37	T	0.43	B	0.094	B	0.204	N	1.000	N	1.87	L	2.29	T	-1.079	T	0.033	T	0.146	1.039	9.244	-5.08	-1.037	-0.498	14.238	0.057	0.00424578013495	7.7e-05	.	0.0001	0	0	0	0	3e-05	0	0.0007	0.0001035	16	154602	rs375159171	0.0002	0.0002	0.0001	0.0002	0.0009	0.0002	0.0001	0.0007	0.0007	2.987e-05	0	0	0	0	0	0.0002	6.623e-05	0.0009	5.255e-05	5.253e-05	5.137e-05	5.378e-05	0.0008	2.556e-05	1.83e-05	0.0003	0.0002	0	0	0	0	0	0	0	5.88e-05	0	0.0008	0.07	0.35349	T	0.082	0.41573	T	0.43	0.35583	B	0.094	0.30180	B	0.204259	0.16523	N	0.645050	1	0.08975	N	1.995	0.54099	M	2.29	0.17113	T	-0.68	0.19509	N	0.125	0.11769	-1.0785	0.07641	T	0.033	0.13986	T	10	0.029841095	0.01110	T	0.004246	0.10247	T	0.057	0.16321	.	.	0.347659731818	0.34379	0.49860020188887366	0.49781	0.446975830528	0.44561	0.343023359776	0.16890	T	0.142827	0.47862	T	-0.59372	0.00159	T	-0.686212	0.06610	T	0.0451979115605354	0.04639	T	0.770723	0.40088	T	0.08340663	0.19259	0.08230905	0.18774	0.08340663	0.19259	0.08230905	0.18773	-4.052	0.24579	T	.	.	0.074	0.05060	B	.	.	-0.472964	0.01955	0.168	0.90297841231701914	0.19565	0.08130	0.14097	N	AEFGBCI	0.104374	0.20885	N	-0.948843111246618	0.09718	0.4612042	-1.10601413370787	0.07585	0.369506	0.999363052286429	0.39301	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.37	-5.08	0.02708	-0.460000	0.06797	-3.296000	0.02898	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.17:0.0:0.83	14.238	0.65484	892	0.26670	Interleukin-12 beta, central domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	2233.98	36	chr5	159320467	.	C	G	2233.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.176e+00;DP=854;ExcessHet=0.0000;FS=5.022;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.54;ReadPosRankSum=-8.970e-01;SOR=1.144	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1232	20	0	1	0
chr5	160092948	160092948	T	C	exonic	PWWP2A	.	nonsynonymous SNV	PWWP2A:NM_001130864:exon2:c.A1702G:p.M568V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.001	B	0.002	B	.	.	1.000	N	0.345	N	0.6	T	-1.001	T	0.065	T	0.179	-1.068	0.175	1.9	0.451	2.259	4.254	0.023	0.00689677016723	.	.	0.0003	0	0	0	0	0	0	0.0008	3.88e-05	6	154602	rs758202350	2.286e-05	2.189e-05	1.41e-05	3.187e-05	0.0003	1.655e-05	1.416e-05	0.0002	0.0002	0	2.8e-05	0	8.387e-05	0	0	9.267e-07	1.724e-05	0.0003	1.313e-05	1.312e-05	0	2.684e-05	0.0004	2.18e-06	8.2e-07	7.29e-05	3.029e-05	0	0	0	0	0	0	0	0	0	0.0004	0.478	0.08286	T	0.561	0.09083	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.81001	D	0.895	0.22405	L	0.6	0.53731	T	0.12	0.05604	N	0.126	0.11912	-1.0008	0.29688	T	0.065	0.26772	T	9	0.019789785	0.00447	T	0.006897	0.18261	T	0.023	0.04649	0.31	0.28289	0.043077524339	0.03247	0.1683135905815819	0.16751	0.774085671428	0.64928	0.398262023926	0.24826	T	0.002023	0.01432	T	-0.407889	0.02053	T	-0.478742	0.24578	T	0.0200411816589032	0.00705	T	0.711829	0.32321	T	0.03950959	0.05469	0.061667666	0.11944	0.03950959	0.05469	0.061667666	0.11943	-2.556	0.06176	T	.	.	0.075	0.05711	B	.	.	1.045411	0.14265	10.84	0.58584208258999804	0.06026	0.81896	0.41211	D	AEFGBCI	0.152285	0.27693	N	-0.617513312385033	0.18418	0.9560614	-0.444592899715684	0.23703	1.293994	0.999982456179648	0.51787	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.78	1.9	0.24770	1.868000	0.39146	0.137000	0.15122	0.665000	0.62972	1.000000	0.71638	0.983000	0.30585	0.995000	0.73285	0.1213:0.069:0.1341:0.6757	4.254	0.10161	838	0.37812	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3530.98	35	chr5	160092948	.	T	C	3530.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.07;DP=940;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.53;ReadPosRankSum=0.213;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1139	20	0	1	0
chr5	160259745	160259745	C	T	exonic	CCNJL	.	nonsynonymous SNV	CCNJL:NM_001308173:exon4:c.G307A:p.V103I	.	.	430	1072	19	1	0	21	0.00969977	.	.	2825503	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.994	D	0.000	D	1.000	D	0.695	N	2.78	T	-1.121	T	0.048	T	0.523	3.163	16.58	4.56	1.302	7.696	13.788	0.246	.	0.0067	0.00459265	0.0072	0.0030	0.0075	0	0.0009	0.0106	0.0046	0.0015	0.0072056	1114	154602	rs139134014	0.0098	0.0098	0.0101	0.0095	0.0117	0.0097	0.0096	0.0115	0.0114	0.0019	0.0076	0.0054	5.042e-05	0.0013	0.0116	0.0117	0.0088	0.0015	0.0069	0.0069	0.0076	0.0062	0.0110	0.0066	0.0064	0.0104	0.0101	0.0024	0	0.0091	0.0072	0	0.0008	0.0204	0.0110	0.0118	0.0008	0.2	0.20381	T	0.091	0.92824	T	1.0	0.90584	D	0.994	0.82059	D	0.000007	0.62929	D	0.063541	0.999999	0.58761	D	1.89	0.50145	L	2.33	0.16492	T	-0.46	0.16393	N	0.59	0.61002	-1.1211	0.02263	T	0.048	0.20592	T	10	0.009744018	0.00219	T	.	.	.	0.246	0.55340	.	.	0.334659703779	0.33074	0.28574121202124275	0.28487	0.682714212984	0.60129	0.49708211422	0.38421	T	0.007417	0.06827	T	-0.416459	0.01803	T	-0.359315	0.38131	T	0.06378534530485	0.07750	T	0.830817	0.52533	T	0.024704264	0.01329	0.04469099	0.05848	0.024704264	0.01329	0.04469099	0.05847	-3.643	0.18481	T	.	.	0.140	0.32202	B	.;.;.;.;.;.	.;.;.;.;.;.	3.618382	0.51192	23.1	0.99405797233699356	0.63028	0.97474	0.74982	D	AEFBI	0.769500	0.70474	D	0.0687260831938042	0.45009	2.764684	0.018617222673971	0.40579	2.424038	0.999999997513203	0.74766	0.706548	0.73137	0	0.491513	0.07743	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.43	4.56	0.55644	7.856000	0.85294	4.940000	0.46203	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.736000	0.35301	0.0:0.9253:0.0:0.0747	13.788	0.62612	925	0.17918	Cyclin-like;Cyclin, N-terminal|Cyclin-like|Cyclin-like;Cyclin, N-terminal|Cyclin-like|Cyclin-like;Cyclin-like;Cyclin, N-terminal|Cyclin-like|Cyclin-like;Cyclin, N-terminal|Cyclin-like|Cyclin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2506.08	36	chr5	160259745	.	C	T	2506.08	.	AC=2;AF=0.048;AN=42;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.41;SOR=1.578	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1062	20	1	0	0
chr5	160276410	160276410	C	T	exonic	CCNJL	.	nonsynonymous SNV	CCNJL:NM_024565:exon4:c.G283A:p.G95R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.287	B	0.029	B	0.031	U	1.000	N	0	N	2.65	T	-1.015	T	0.016	T	0.393	-0.663	1.096	0.113	0.184	-0.999	.	0.037	0.00180990285966	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs554976694	0	1.431e-05	0	0	.	0	0	.	.	.	.	.	.	.	.	0	0	0	3.471e-05	4.055e-05	2.69e-05	4.305e-05	0.0002	1.315e-05	8.37e-06	4.96e-06	1.86e-06	2.627e-05	0	0	0	0.0002	0	0	2.991e-05	0	0.0002	0.363	0.11807	T	0.277	0.21880	T	0.287	0.32229	B	0.029	0.21540	B	0.031393	0.01735	U	302.096000	1	0.08975	N	0	0.06538	N	2.65	0.12676	T	0.11	0.05706	N	0.231	0.25989	-1.0150	0.25336	T	0.016	0.06664	T	9	0.0389466	0.02348	T	0.00181	0.03115	T	0.037	0.09474	0.462	0.53079	0.221019684889	0.21715	0.23104627114401188	0.23019	0.294749627	0.31892	0.398734122515	0.24893	T	0.001193	0.00692	T	-0.258151	0.13117	T	-0.608592	0.12099	T	0.109888426959515	0.13412	T	0.168983	0.01576	T	0.04673832	0.07874	0.09300769	0.21946	0.04673832	0.07874	0.09300769	0.21946	-2.459	0.05507	T	.	.	0.280	0.55754	B	.;.	.;.	0.901238	0.12752	9.270	0.41196088321703528	0.02956	0.00191	0.01107	N	AEFBI	0.057681	0.10764	N	-1.27890543523831	0.03930	0.1764748	-1.38761666779434	0.03383	0.1576957	0.102988766846397	0.16433	0.475973	0.10046	0	0.547309	0.14657	0	0.670488	0.60580	0	0.714379	0.83352	0	.	.	0.113	0.113	0.13937	-0.997000	0.03816	-3.804000	0.02526	-0.288000	0.06323	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	910	0.22284	Cyclin-like;Cyclin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	225.34	40	chr5	160276410	.	C	T	225.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.255;DP=645;ExcessHet=0.0000;FS=5.752;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=6.83;ReadPosRankSum=2.08;SOR=1.754	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:96:.:.:0,96,1440	19	0	1	1
chr5	160349302	160349302	T	C	exonic	C1QTNF2	.	nonsynonymous SNV	C1QTNF2:NM_031908:exon3:c.A724G:p.K242E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.529	P	0.194	B	0.000	D	0.981	D	0.28	N	1.29	T	-1.067	T	0.057	T	0.416	1.622	11.38	5.14	2.071	3.842	14.930	0.059	0.0110906628681	.	.	8.238e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs770978113	4.104e-06	4.104e-06	2.722e-06	5.5e-06	0.0002	1.48e-06	9.7e-07	9.24e-06	4.56e-06	0	0	0	0	0	0.0002	0	3.311e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	0.14400	T	0.285	0.21343	T	.	.	.	.	.	.	0.000236	0.47286	D	0.224065	0.980898	0.39716	D	.	.	.	1.29	0.35775	T	-0.32	0.12283	N	0.472	0.50778	-1.0671	0.10062	T	0.057	0.23828	T	10	0.20980561	0.37355	T	0.011091	0.28353	T	0.059	0.16972	.	.	0.128392430309	0.12331	0.4646196372803165	0.46380	0.160302322173	0.18085	0.559326589108	0.47174	T	.	.	.	-0.251452	0.13921	T	-0.417442	0.31368	T	0.300115913152695	0.25009	T	0.674733	0.28305	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.37369	B	.	.	3.713301	0.53021	23.3	0.99314740584281092	0.59129	0.97294	0.73849	D	AEFBI	0.775736	0.70906	D	0.0195878859818195	0.42747	2.581431	0.17480397136058	0.48471	3.062523	0.973007290041317	0.29418	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.14	5.14	0.70008	3.105000	0.50005	6.157000	0.54283	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	14.930	0.70549	933	0.16026	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2096.98	34	chr5	160349302	.	T	C	2096.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.060;DP=889;ExcessHet=0.0000;FS=12.583;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=-1.005e+00;SOR=1.423	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,101,1327	20	0	1	0
chr5	160349769	160349769	C	T	exonic	C1QTNF2	.	nonsynonymous SNV	C1QTNF2:NM_001366504:exon3:c.G257A:p.R86Q	.	.	419	1100	3	0	0	3	0.00136178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	1.0	D	0.957	D	0.000	D	1.000	D	1.725	L	-3.37	D	0.649	D	0.851	D	0.546	3.252	16.91	5.76	2.734	3.194	19.565	0.441	0.166926099414	.	0.000998403	0.0002	0	0	0	0	1.691e-05	0	0.0020	0.0002264	35	154602	rs577083972	0.0002	0.0002	9.488e-05	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	0.0001	3.297e-05	0	0	0	0.0011	1.67e-05	0.0003	0.0024	0.0002	0.0002	0.0001	0.0002	0.0029	0.0001	0.0001	0.0018	0.0014	0.0001	0	0	0	0	0	0	0.0001	0.0005	0.0029	0.277	0.15665	T	0.572	0.08746	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999953	0.52396	D	.	.	.	-3.37	0.94114	D	-0.29	0.11728	N	0.498	0.53093	0.649	0.92532	D	0.851	0.95042	D	10	0.019938946	0.00452	T	0.166926	0.84542	D	0.441	0.74447	.	.	0.882350742781	0.88119	0.4081150034511589	0.40727	0.0781330664688	0.08789	0.421011686325	0.27975	T	.	.	.	-0.182684	0.23336	T	-0.0410467	0.67630	D	0.0604209743644728	0.07235	T	0.886111	0.61235	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.17573	B	.	.	3.875101	0.56290	23.7	0.99737732631055354	0.83264	0.97466	0.74931	D	AEFDBI	0.712371	0.66551	D	0.590315152418763	0.72568	5.826516	0.610014159569355	0.75668	6.351096	0.999999968405293	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.76	5.76	0.90726	4.152000	0.57887	4.896000	0.45813	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.565	0.95382	933	0.16026	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	903.98	20	chr5	160349769	.	C	T	903.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.119;DP=675;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.22;ReadPosRankSum=-5.790e-01;SOR=0.709	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1156	20	0	1	0
chr5	160394911	160394911	A	G	exonic	ZBED8	.	nonsynonymous SNV	ZBED8:NM_022090:exon2:c.T580C:p.Y194H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.986	D	0.649	P	.	.	0.796	N	1.665	L	2.12	T	-1.047	T	0.068	T	0.691	2.585	14.60	3.32	1.759	1.100	8.395	0.120	0.00114366297936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	0.986	0.61523	D	0.649	0.52426	P	.	.	.	.	0.795797	0.29173	N	2.215	0.62545	M	2.12	0.19726	T	-4.53	0.78388	D	0.615	0.64818	-1.0474	0.15130	T	0.068	0.27980	T	9	0.51517534	0.62324	D	0.001144	0.01410	T	0.120	0.33359	0.513	0.61153	0.268211541103	0.26431	0.45617001972535437	0.45535	0.304278428197	0.32738	.	.	.	0.169985	0.51757	T	0.000153477	0.51675	T	-0.237556	0.51036	T	0.970910310745239	0.69124	D	0.578142	0.20837	T	0.4194557	0.62055	0.44931972	0.67946	0.4194557	0.62056	0.44931972	0.67946	-8.271	0.62902	D	.	.	0.599	0.68821	P	.;.	.;.	3.408183	0.47264	22.4	0.99810903587531796	0.89442	0.25609	0.22750	N	AEFBI	0.081275	0.16444	N	0.227559878046663	0.52539	3.427376	0.164109480772986	0.47893	3.012932	0.999536410121253	0.40238	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	3.32	3.32	0.37134	1.085000	0.30452	6.395000	0.55566	0.756000	0.94297	0.585000	0.27626	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	8.395	0.31714	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1022.98	47	chr5	160394911	.	A	G	1022.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.040e-01;DP=811;ExcessHet=0.0000;FS=2.985;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=1.84;SOR=1.059	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1162	20	0	1	0
chr5	160565617	160565617	T	A	exonic	ATP10B	.	nonsynonymous SNV	ATP10B:NM_001366652:exon25:c.A4222T:p.M1408L	.	.	428	1091	3	0	0	3	0.001373	.	.	3301049	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.168	N	1.000	N	-0.205	N	1.08	T	-1.075	T	0.040	T	0.097	1.283	10.20	-3.34	-0.175	-0.569	0.290	0.061	0.00281509428216	.	0.000199681	5.798e-05	0	0.0002	0	0	1.498e-05	0	0.0002	5.82e-05	9	154602	rs564583647	4.036e-05	4.036e-05	2.45e-05	5.638e-05	0.0017	3.179e-05	2.91e-05	0.0009	0.0007	0	0	0	0	0	0.0017	3.597e-06	0.0001	0.0004	2.626e-05	2.625e-05	0	5.369e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	0	0.0005	0.0006	0.371	0.11514	T	0.548	0.09489	T	0.0	0.02946	B	0.0	0.01387	B	0.168421	0.03092	N	1.566650	1	0.08975	N	0	0.06538	N	1.08	0.39401	T	-0.54	0.16598	N	0.106	0.09066	-1.0745	0.08452	T	0.040	0.17020	T	9	0.024899572	0.00702	T	0.002815	0.05869	T	0.061	0.17616	0.197	0.10975	0.263612267334	0.25957	0.12314436343434507	0.12240	0.0729359774762	0.08171	0.204060912132	0.00584	T	0.001356	0.00824	T	-0.559166	0.00257	T	-0.724823	0.04566	T	0.107111863791943	0.13121	T	0.358964	0.08219	T	0.06554185	0.14017	0.048929933	0.07371	0.06554185	0.14016	0.048929933	0.07371	-1.368	0.01514	T	.	.	0.086	0.12323	B	.;.	.;.	-0.766893	0.01174	0.056	0.3647727986506259	0.02349	0.01322	0.04567	N	AEFDHI	0.034204	0.04195	N	-1.36577426175907	0.02964	0.1317186	-1.37348239447228	0.03537	0.1651821	0.0247916932914774	0.13604	0.487112	0.14033	0	0.573888	0.26702	0	0.48864	0.07692	0	0.564101	0.26826	0	.	.	5.44	-3.34	0.04635	-0.793000	0.04695	-3.069000	0.03089	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2772:0.2603:0.1473:0.3152	0.290	0.00239	887	0.27948	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2396.98	34	chr5	160565617	.	T	A	2396.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.93;DP=893;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=0.495;SOR=0.694	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1352	20	0	1	0
chr5	160606839	160606839	C	T	exonic	ATP10B	.	nonsynonymous SNV	ATP10B:NM_001366652:exon18:c.G3086A:p.R1029H	.	.	427	1082	13	0	0	13	0.00597152	.	.	2825504	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	1.0	D	0.999	D	0.000	D	1.000	D	3.715	H	-1.29	T	0.816	D	0.773	D	0.935	5.352	34	5.05	2.344	7.702	17.417	0.891	.	7.9e-05	0.00219649	0.0012	0.0001	0	0.0012	0	0.0004	0	0.0062	0.0010284	159	154602	rs200782414	0.0007	0.0007	0.0005	0.0009	0.0062	0.0007	0.0007	0.0058	0.0056	0.0001	0.0001	0	0.0005	1.872e-05	0.0028	0.0004	0.0007	0.0062	0.0004	0.0004	0.0003	0.0005	0.0062	0.0003	0.0003	0.0045	0.0039	4.813e-05	0	6.54e-05	0	0.0008	0	0.0034	0.0002	0.0005	0.0062	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.15	0.97575	H	-1.29	0.79475	T	-4.51	0.78222	D	0.936	0.94196	0.816	0.94603	D	0.773	0.92300	D	9	0.02857536	0.00988	T	.	.	.	0.891	0.96873	.	.	0.94117129692	0.94056	0.9287071617889708	0.92848	0.491966960498	0.47863	0.657167196274	0.61005	T	0.385755	0.74707	T	0.097546	0.64026	D	0.369676	0.91061	D	0.239793604385443	0.22410	T	0.992801	0.97620	D	0.58547974	0.71906	0.49341583	0.70699	0.58547974	0.71907	0.49341583	0.70700	-12.994	0.89339	D	.	.	0.227	0.59584	B	.;.	.;.	5.270177	0.88488	29.6	0.9996034055534363	0.99994	0.98583	0.84360	D	AEFI	0.956747	0.97549	D	0.910387736936323	0.92260	11.32189	0.824452206471775	0.91438	10.88754	0.999998860971258	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	5.05	5.05	0.67566	7.813000	0.84661	4.824000	0.45142	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	17.417	0.87394	865	0.32612	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2414.98	34	chr5	160606839	.	C	T	2414.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.540e-01;DP=902;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=-2.015e+00;SOR=0.710	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1269	20	0	1	0
chr5	160620521	160620521	C	A	exonic	ATP10B	.	nonsynonymous SNV	ATP10B:NM_001366652:exon14:c.G2242T:p.V748L	.	.	418	1098	6	0	0	6	0.0027248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.997	D	0.000	D	1.000	D	0.82	L	-0.26	T	-0.532	T	0.277	T	0.686	4.829	27.4	5.36	2.523	5.950	18.115	0.331	0.0250136582651	0.0003	0.000599042	0.0007	0.0001	0.0002	0	0.0002	0.0011	0.0011	0.0005	0.0007568	117	154602	rs192890224	0.0007	0.0007	0.0006	0.0008	0.0042	0.0007	0.0006	0.0029	0.0024	0.0001	0.0003	0.0036	0	0.0002	0.0042	0.0007	0.0007	0.0007	0.0006	0.0006	0.0007	0.0006	0.0010	0.0005	0.0005	0.0008	0.0007	9.618e-05	0	0.0007	0.0035	0	0	0	0.0010	0	0	0.004	0.65419	D	0.006	0.70582	D	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.84330	D	0.000000	1	0.81001	D	1.445	0.36358	L	-0.26	0.67187	T	-2.64	0.56630	D	0.598	0.61680	-0.5322	0.67458	T	0.277	0.64875	T	9	0.0288966	0.01019	T	0.025014	0.48002	D	0.331	0.65325	0.566	0.68768	0.776501030229	0.77444	0.5752684807764484	0.57455	0.442441332991	0.44207	0.523829996586	0.42166	T	0.184188	0.53677	T	-0.189012	0.22402	T	-0.0848126	0.64550	T	0.22239151597023	0.21582	T	0.920608	0.71304	D	0.5196766	0.68241	0.43318775	0.66880	0.5196766	0.68242	0.43318775	0.66880	-6.663	0.51531	T	.	.	0.579	0.68002	P	.;.;.	.;.;.	4.465117	0.69523	25.4	0.9981944579503349	0.90238	0.97741	0.76797	D	AEFI	0.850860	0.76771	D	0.581967081879667	0.72050	5.745071	0.615924253461325	0.76095	6.428492	0.999133064222995	0.38535	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.36	5.36	0.76624	6.083000	0.70975	7.630000	0.62690	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	18.115	0.89479	865	0.32612	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1146.98	41	chr5	160620521	.	C	A	1146.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=851;ExcessHet=0.0000;FS=5.646;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.56;ReadPosRankSum=1.25;SOR=0.512	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr5	160620587	160620587	C	T	exonic	ATP10B	.	nonsynonymous SNV	ATP10B:NM_001366652:exon14:c.G2176A:p.A726T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.999	D	0.000	D	1.000	D	3	M	-2.19	D	0.816	D	0.826	D	0.788	5.527	35	5.36	2.523	7.670	18.115	0.806	0.0534249374882	7.9e-05	0.000199681	0.0002	0.0004	0	0.0003	0	4.524e-05	0	0.0007	0.0001552	24	154602	rs367974827	7.459e-05	7.524e-05	5.855e-05	9.079e-05	0.0005	6.317e-05	5.874e-05	0.0004	0.0003	0.0002	8.947e-05	0	0.0002	0.0001	0.0002	3.238e-05	9.938e-05	0.0005	0.0002	0.0002	0.0002	0.0002	0.0008	0.0001	0.0001	0.0003	0.0003	0.0005	0	0	0	0.0006	9.414e-05	0	1.47e-05	0	0.0008	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.585	0.93597	H	-2.19	0.86815	D	-3.82	0.71997	D	0.844	0.83987	0.816	0.94611	D	0.826	0.94143	D	9	0.71148306	0.73073	D	0.053425	0.65463	D	0.806	0.93699	.	.	0.927941553073	0.92720	0.7467041025812069	0.74616	0.439996960147	0.44017	0.799229860306	0.81846	T	0.490762	0.81542	T	0.0375108	0.56718	T	0.213629	0.83851	D	0.819770574569702	0.47755	D	0.995817	0.98540	D	0.71370673	0.78812	0.74479884	0.84915	0.71370673	0.78813	0.74479884	0.84916	-8.659	0.65478	D	.	.	0.951	0.87006	P	.;.;.	.;.;.	5.011384	0.83222	28.0	0.9994735610406128	0.99913	0.98440	0.82799	D	AEFI	0.954988	0.97250	D	0.873361638783327	0.90394	10.38457	0.822064748646621	0.91283	10.80946	0.999999991302004	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.36	5.36	0.76624	7.813000	0.84661	7.630000	0.62690	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.644000	0.32530	0.0:1.0:0.0:0.0	18.115	0.89479	865	0.32612	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2515.98	41	chr5	160620587	.	C	T	2515.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.886;DP=893;ExcessHet=0.0000;FS=2.794;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.25;ReadPosRankSum=1.01;SOR=0.965	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr5	160634489	160634489	G	A	exonic	ATP10B	.	stopgain	ATP10B:NM_001366658:exon7:c.C1162T:p.R388X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	12.753	46	4.64	1.297	2.901	14.612	.	.	.	0.000199681	1.66e-05	0	8.66e-05	0.0001	0	0	0	0	1.94e-05	3	154602	rs201139624	8.209e-06	8.209e-06	8.167e-06	8.25e-06	6.708e-05	4.38e-06	3.46e-06	1.779e-05	8.93e-06	0	6.708e-05	0	2.519e-05	0	0	7.194e-06	0	0	5.91e-05	5.906e-05	6.426e-05	5.371e-05	0.0005	3.076e-05	2.209e-05	0.0003	0.0002	0	0	0.0005	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.000099	0.51296	D	0.077227	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.426	0.46555	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.477335	0.93604	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.	.;High;.	8.947270	0.98247	39	0.99849604957285987	0.92925	0.92482	0.55814	D	AEFI	0.259053	0.37748	N	0.901653851607265	0.91840	11.09258	0.720690011004834	0.83951	8.158139	0.0300066048392184	0.13918	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.53	4.64	0.57399	2.973000	0.48956	9.768000	0.81541	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:0.0:0.8533:0.1467	14.612	0.68122	858	0.34001	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2266.98	38	chr5	160634489	.	G	A	2266.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.35;DP=869;ExcessHet=0.0000;FS=0.558;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=0.407;SOR=0.625	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1317	20	0	1	0
chr5	160685015	160685015	T	C	exonic	ATP10B	.	nonsynonymous SNV	ATP10B:NM_001366658:exon1:c.A206G:p.Y69C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.628e-06	3.181e-06	7.91e-06	0	0.0005	6e-07	2.3e-07	8.627e-05	3.588e-05	0	0	0	0	0	0.0005	0	0	0	1.971e-05	1.969e-05	0	4.03e-05	.	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0.0102	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7150434	0.73291	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.927307	0.73215	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.701	0.73016	P	.	.	2.540840	0.32871	19.17	0.79543793417501552	0.12790	0.98384	0.82228	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999867070675	0.74766	0.074636	0.01641	0	0.063388	0.01293	0	0.078618	0.02440	0	0.057018	0.00518	0	0.967517	0.70088	5.71	5.71	0.89031	7.924000	0.86974	7.705000	0.66497	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	15.156	0.72424	850	0.35610	P-type ATPase, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	39.8	2	chr5	160685015	.	T	C	39.8	.	AC=2;AF=0.111;AN=18;DP=49;ExcessHet=0.0000;FS=0.000;MLEAC=3;MLEAF=0.167;MQ=60.00;QD=19.90;SOR=0.693	GT:AD:DP:GQ:PL	./.	8	1	0	12
chr5	163469773	163469773	A	G	exonic	HMMR	.	nonsynonymous SNV	HMMR:NM_001142557:exon2:c.A145G:p.T49A	.	.	.	.	.	.	.	.	.	.	.	2346394	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.87	T	0.0	B	0.001	B	0.000	D	0.918	N	0	N	2.99	T	-0.984	T	0.164	T	0.131	1.773	11.89	2.15	0.120	1.701	8.008	0.060	0.0247190025527	7.7e-05	.	4.122e-05	0	0	0	0	5.999e-05	0	6.06e-05	4.53e-05	7	154602	rs201404287	3.767e-05	3.762e-05	3.544e-05	3.992e-05	0.0003	2.963e-05	2.659e-05	6.094e-05	4.043e-05	0	2.239e-05	0	0	0	0.0003	3.692e-05	3.314e-05	0.0001	3.282e-05	3.281e-05	2.569e-05	4.027e-05	5.879e-05	1.26e-05	7.97e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0.0034	5.879e-05	0	0	0.054	0.38633	T	0.241	0.32461	T	0.0	0.02946	B	0.0	0.04355	B	0.000479	0.44119	D	0.232113	0.996814	0.27358	N	0.805	0.20218	L	-1.17	0.78199	T	-0.29	0.13805	N	0.037	0.01825	-0.9843	0.33998	T	0.164	0.50045	T	10	0.04510957	0.03544	T	0.024719	0.47706	T	0.060	0.17295	.	.	0.644325926208	0.64138	0.04786964437928481	0.04729	0.0590735602802	0.06558	0.27437210083	0.06720	T	0.102934	0.52551	T	-0.260103	0.12888	T	-0.429868	0.29949	T	0.0221627606204562	0.00927	T	0.509849	0.17180	T	0.025529435	0.01501	0.04351879	0.05432	0.025529435	0.01501	0.04351879	0.05431	-3.365	0.14589	T	.	.	0.069	0.03925	B	.;.;.;.;.;.	.;.;.;.;.;.	1.146947	0.15347	11.78	0.87709617616569258	0.17424	0.72038	0.35276	D	AEFBI	0.068841	0.13598	N	-0.971428322337762	0.09218	0.4353508	-0.744361674562847	0.15861	0.8362753	0.99382466713496	0.33371	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	2.15	0.26590	1.870000	0.39166	0.779000	0.21463	-0.720000	0.03816	1.000000	0.71638	0.995000	0.32472	0.864000	0.41028	0.2583:0.0:0.1172:0.6244	8.008	0.29501	931	0.16308	Hyaluronan mediated motility receptor, N-terminal;Hyaluronan mediated motility receptor, N-terminal;.;.;.;Hyaluronan mediated motility receptor, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2093.98	35	chr5	163469773	.	A	G	2093.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.46;DP=996;ExcessHet=0.0000;FS=3.711;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.34;ReadPosRankSum=-8.050e-01;SOR=0.690	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1800	20	0	1	0
chr5	168502030	168502030	G	A	exonic	RARS1	.	nonsynonymous SNV	RARS1:NM_002887:exon9:c.G982A:p.V328I,	.	.	451	1042	27	2	0	31	0.0146572	.	.	369735	RARS1-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.72	T	0.003	B	0.014	B	0.000	N	0.897	N	-0.025	N	-0.24	T	-1.032	T	0.083	T	0.072	-0.765	0.773	3.99	0.904	2.042	9.332	0.080	.	0.0036	0.0103834	0.0084	0.0015	0.0022	0	0.0006	0.0057	0.0033	0.0357	0.0076648	1185	154602	rs62385662	0.0069	0.0071	0.0061	0.0078	0.0349	0.0068	0.0068	0.0338	0.0334	0.0008	0.0026	0.0052	5.211e-05	0.0015	0.0121	0.0058	0.0060	0.0349	0.0047	0.0047	0.0043	0.0051	0.0349	0.0044	0.0043	0.0306	0.0290	0.0009	0	0.0056	0.0035	0	0.0008	0.0102	0.0058	0.0043	0.0349	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.014	0.16862	B	0.000002	0.62929	N	0.097391	0.897314	0.27769	N	0.09	0.08384	N	-0.24	0.66834	T	0.34	0.03824	N	0.132	0.12770	-1.0317	0.19905	T	0.083	0.32499	T	10	0.0030251145	0.00050	T	.	.	.	0.080	0.23350	.	.	0.327952845175	0.32413	0.2619038956411178	0.26104	0.102547148588	0.11607	0.240840762854	0.02866	T	0.092985	0.39118	T	-0.539611	0.00337	T	-0.523516	0.19940	T	0.000982415210076527	0.00009	T	0.748625	0.36937	T	0.029705701	0.02508	0.03727165	0.03346	0.029705701	0.02508	0.03727165	0.03346	-3.975	0.23428	T	0.07787395530918212	0.03689	0.070	0.03407	B	.	.	0.481741	0.08514	5.274	0.19889733911019364	0.00691	0.27502	0.23295	N	AEFBI	0.054241	0.09844	N	-0.710132157647346	0.15736	0.7956725	-0.50197793115811	0.22099	1.198669	0.999279479482713	0.38974	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.14	3.99	0.45527	2.019000	0.40620	1.065000	0.23755	-0.704000	0.03997	1.000000	0.71638	0.459000	0.24993	0.429000	0.27427	0.8443:0.0:0.1557:0.0	9.332	0.37191	972	0.05671	Arginyl-tRNA synthetase, catalytic core domain|Arginyl-tRNA synthetase, catalytic core domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	772.98	92	chr5	168502030	.	G	A	772.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=766;ExcessHet=0.0000;FS=3.997;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.40;ReadPosRankSum=-1.536e+00;SOR=0.504	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1143	20	0	1	0
chr5	168724456	168724456	C	T	exonic	SLIT3	.	nonsynonymous SNV	SLIT3:NM_001271946:exon21:c.G2299A:p.V767M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.988	D	0.000	D	1.000	D	1.89	L	-1.4	T	0.394	D	0.635	D	0.494	4.006	20.5	4.34	2.264	6.376	17.117	0.693	0.304523466058	.	.	8.385e-06	0	0	0	0	0	0	6.186e-05	6.5e-06	1	154602	rs764879153	5.476e-06	5.472e-06	5.449e-06	5.504e-06	6.961e-05	2.36e-06	1.7e-06	2.997e-05	2.039e-05	0	0	0	0	1.881e-05	0	8.998e-07	0	6.961e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.988	0.77976	D	0.000004	0.62929	D	0.062472	0.999938	0.51612	D	1.89	0.50145	L	-1.4	0.80474	T	-2.32	0.51478	N	0.596	0.65758	0.394	0.89005	D	0.635	0.87215	D	10	0.7637255	0.76542	D	0.304523	0.90990	D	0.693	0.88867	0.691	0.82843	0.6974130324	0.69480	0.5148404654576598	0.51407	0.955217639602	0.72780	0.787575006485	0.80074	T	0.219072	0.58197	T	0.0207991	0.54489	T	-0.10727	0.62828	T	0.882816970348358	0.53295	D	0.738626	0.35686	T	0.33314845	0.55727	0.3792657	0.62986	0.33314845	0.55727	0.3792657	0.62986	-10.368	0.76085	D	.	.	0.435	0.65038	A	.;.;.	.;.;.	5.184019	0.86922	29.1	0.99910386265247286	0.98022	0.98466	0.83072	D	AEFDBI	0.846476	0.76335	D	0.6655343247746	0.77378	6.663119	0.621417578819931	0.76497	6.502019	0.917450982904163	0.26542	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.34	4.34	0.51267	5.774000	0.68561	7.621000	0.62310	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:1.0:0.0:0.0	17.117	0.86568	919	0.19497	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	980.98	34	chr5	168724456	.	C	T	980.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.540e-01;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.46;ReadPosRankSum=-2.950e-01;SOR=0.700	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr5	168772899	168772899	C	T	exonic	SLIT3	.	stopgain	SLIT3:NM_001271946:exon14:c.G1341A:p.W447X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	7.400	39	5.63	2.654	7.818	19.691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1231933530	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.915	0.91736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58478	0.97200	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive	.;.;High	10.927380	0.99876	50	0.9971981858933755	0.81984	0.95599	0.65367	D	AEFDBHCIJ	0.465150	0.51334	N	0.974403188253802	0.94901	13.13677	0.869211514554081	0.94087	12.49486	0.999999999999721	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.48864	0.07692	0	0.564101	0.26826	0	.	.	5.63	5.63	0.86108	7.905000	0.86479	7.704000	0.66446	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.691	0.95998	945	0.12563	Cysteine-rich flanking region, C-terminal;Cysteine-rich flanking region, C-terminal;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1444.98	33	chr5	168772899	.	C	T	1444.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.020e-01;DP=808;ExcessHet=0.0000;FS=6.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=0.534;SOR=0.588	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1169	20	0	1	0
chr5	169594629	169594629	A	G	exonic	SPDL1	.	nonsynonymous SNV	SPDL1:NM_001329639:exon7:c.A839G:p.Q280R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.999	D	0.994	D	0.000	D	0.995	D	2.135	M	1.38	T	-0.796	T	0.217	T	0.446	4.125	21.3	5.8	2.207	6.432	16.154	0.134	0.0220758738684	0.0002	0.000599042	0.0005	0	0.0002	0	0	0.0003	0.0011	0.0021	0.0004269	66	154602	rs150689580	0.0003	0.0003	0.0002	0.0003	0.0021	0.0002	0.0002	0.0018	0.0017	2.987e-05	0.0002	0.0026	2.52e-05	0	0.0012	9.534e-05	0.0005	0.0021	0.0002	0.0002	0.0002	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	0	0	0.0004	0.0035	0	0	0	0.0001	0.0005	0.0021	0.009	0.57480	D	0.013	0.63109	D	0.999	0.77913	D	0.943	0.67921	D	0.000001	0.84330	D	0.054792	0.995145	0.42562	D	1.87	0.49600	L	1.38	0.34050	T	-2.24	0.50175	N	0.543	0.57006	-0.7964	0.55356	T	0.217	0.57876	T	10	0.018501371	0.00403	T	0.022076	0.44930	T	0.134	0.36365	.	.	0.652441387294	0.64954	0.15638553366049823	0.15559	0.235566991127	0.26085	0.486807107925	0.36996	T	0.029201	0.20979	T	-0.378464	0.03185	T	-0.322272	0.42324	T	0.044239316385369	0.04464	T	0.849315	0.53201	T	0.2931814	0.52287	0.41529858	0.65648	0.27170628	0.50241	0.38879427	0.63714	-5.915	0.45562	T	.	.	0.161	0.35622	B	.	.	4.592305	0.72647	25.9	0.99857582208872864	0.93639	0.98039	0.79086	D	AEFBI	0.766540	0.70269	D	0.708534990423119	0.80193	7.240123	0.707530139829541	0.82951	7.895813	0.999999991856302	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	6.438000	0.73348	9.263000	0.79575	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	16.154	0.81460	937	0.14592	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1585.98	35	chr5	169594629	.	A	G	1585.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.196e+00;DP=966;ExcessHet=0.0000;FS=0.780;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.55;ReadPosRankSum=0.748;SOR=0.830	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	20	0	1	0
chr5	169654449	169654449	G	C	exonic	DOCK2	.	nonsynonymous SNV	DOCK2:NM_004946:exon2:c.G90C:p.Q30H,	Immunodeficiency 40, Autosomal recessive	.	424	1095	3	0	0	3	0.00136799	.	.	521515	DOCK2-related_disorder|not_provided|DOCK2_deficiency	.|MedGen:C3661900|MONDO:MONDO:0014637,MedGen:C4225328,OMIM:616433,Orphanet:447737	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.22	T	0.0	B	0.001	B	0.000	D	1.000	D	1.23	L	3.08	T	-1.018	T	0.013	T	0.354	1.782	11.92	3.98	1.465	0.956	7.728	0.106	0.00594725775044	0.0017	0.00179712	0.0010	0.0041	0.0023	0	0	0.0007	0.0011	0.0001	0.0010802	167	154602	rs141894939	0.0010	0.0010	0.0010	0.0010	0.0078	0.0010	0.0009	0.0060	0.0054	0.0049	0.0032	3.826e-05	0	1.872e-05	0.0078	0.0009	0.0019	0.0001	0.0022	0.0022	0.0022	0.0021	0.0049	0.0020	0.0019	0.0043	0.0041	0.0049	0	0.0048	0	0	0	0.0068	0.0007	0.0014	0	0.08	0.33585	T	0.117	0.36365	T	0.0	0.02946	B	0.001	0.04355	B	0.000440	0.44522	D	0.234721	0.687	0.30229	N	1.435	0.35949	L	3.08	0.08460	T	-1.9	0.44284	N	0.38	0.42149	-1.0181	0.24334	T	0.013	0.05129	T	10	0.007919282	0.00180	T	0.005947	0.15520	T	0.106	0.30130	0.485	0.56780	0.411411441165	0.40760	0.5606701927308603	0.55994	0.505824996548	0.48811	0.489240825176	0.37332	T	0.135027	0.46661	T	-0.524503	0.00414	T	-0.523855	0.19905	T	0.00969946994709612	0.00127	T	0.858514	0.54939	D	0.32834172	0.55335	0.15048006	0.35488	0.34308392	0.56524	0.16156124	0.37572	-5.494	0.41812	T	.	.	0.166	0.36673	B	.;.	.;.	2.660484	0.34663	19.69	0.98584834801498467	0.43284	0.77525	0.38127	D	AEFDBI	0.215030	0.34043	N	-0.272459149024142	0.30215	1.682725	-0.128720270742409	0.34238	1.967188	0.999996169750181	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.82	3.98	0.45383	1.453000	0.34778	4.469000	0.43488	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.221000	0.22489	0.0832:0.0:0.757:0.1598	7.728	0.27939	871	0.31377	SH3 domain|SH3 domain;SH3 domain|SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	931.98	36	chr5	169654449	.	G	C	931.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.661;DP=807;ExcessHet=0.0000;FS=4.140;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=-9.180e-01;SOR=1.218	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr5	169803138	169803138	G	A	exonic	DOCK2	.	nonsynonymous SNV	DOCK2:NM_004946:exon26:c.G2635A:p.V879I,	Immunodeficiency 40, Autosomal recessive	.	430	1090	2	0	0	2	0.00091659	.	.	830644	Inborn_genetic_diseases|DOCK2_deficiency	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014637,MedGen:C4225328,OMIM:616433,Orphanet:447737	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.42	T	0.0	B	0.0	B	0.490	N	1.000	D	0	N	2.09	T	-1.006	T	0.025	T	0.087	0.947	8.861	1.56	0.336	0.306	4.067	0.007	0.00269357846888	0.0002	0.000199681	0.0002	0	0.0003	0	0	0.0002	0	0.0001	0.0001294	20	154602	rs150884555	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	9.767e-05	0.0003	0.0003	2.987e-05	0.0005	0.0022	0	0	0.0005	4.496e-05	0.0003	0.0002	0.0001	0.0001	0.0001	0.0001	0.0005	8.658e-05	7.251e-05	0.0003	0.0002	0	0	0.0005	0.0020	0	0	0	5.879e-05	0.0005	0	0.468	0.08969	T	0.501	0.15988	T	0.0	0.02946	B	0.0	0.01387	B	0.489717	0.05029	N	1.281640	0.999995	0.58761	D	0.69	0.16971	N	2.09	0.20122	T	-0.26	0.14978	N	0.08	0.12770	-1.0055	0.28307	T	0.025	0.10821	T	10	0.0056284964	0.00125	T	0.002694	0.05521	T	0.007	0.00512	.	.	0.20808081866	0.20439	0.045454962341316026	0.04489	0.421046256566	0.42620	0.338476389647	0.16210	T	0.042258	0.26123	T	-0.542034	0.00326	T	-0.694405	0.06137	T	0.00449573900550604	0.00048	T	0.682032	0.30359	T	0.025074845	0.01405	0.026237363	0.00703	0.025074845	0.01404	0.026237363	0.00703	-3.358	0.14497	T	.	.	0.071	0.09385	B	.;.;.;.	.;.;.;.	0.836350	0.12081	8.633	0.86080474388631834	0.16301	0.34973	0.25193	N	ALL	0.062718	0.12073	N	-0.944375300040142	0.09820	0.4664356	-0.821364841282276	0.13978	0.7280147	1.0	0.98316	0.631515	0.41029	0	0.697927	0.68747	0	0.658983	0.55881	0	0.566403	0.31848	0	.	.	5.44	1.56	0.22423	0.333000	0.19512	1.290000	0.25406	-0.153000	0.12021	0.202000	0.24332	0.769000	0.26685	0.471000	0.28363	0.1326:0.2355:0.5106:0.1214	4.067	0.09341	934	0.15400	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1065.98	108	chr5	169803138	.	G	A	1065.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.550e-01;DP=828;ExcessHet=0.0000;FS=0.723;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.87;ReadPosRankSum=-8.660e-01;SOR=0.719	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1178	20	0	1	0
chr5	170878191	170878191	T	C	exonic	RANBP17	.	nonsynonymous SNV	RANBP17:NM_022897:exon2:c.T113C:p.I38T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.43	B	0.096	B	0.000	D	0.846	D	-0.6	N	-0.25	T	-0.907	T	0.089	T	0.39	-0.382	2.207	5.35	2.016	3.069	9.539	0.096	0.0147988266725	7.7e-05	0.000199681	3.31e-05	0.0003	8.75e-05	0	0	0	0	0	3.88e-05	6	154602	rs143413352	2.806e-05	2.805e-05	2.997e-05	2.615e-05	0.0001	2.088e-05	1.879e-05	5.852e-05	3.76e-05	0.0001	4.479e-05	0	2.524e-05	1.873e-05	0	2.789e-05	0	1.162e-05	0.0001	0.0001	0.0002	0.0001	0.0005	9.737e-05	8.252e-05	0.0003	0.0003	0.0005	0	0	0	0	0	0	0	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.01	0.14941	B	0.000215	0.47681	D	0.000000	0.845987	0.35143	D	0.715	0.18665	N	-0.25	0.67011	T	1.88	0.00467	N	0.495	0.52829	-0.9067	0.47250	T	0.089	0.34216	T	10	0.07528779	0.11617	T	0.014799	0.35150	T	0.096	0.27654	.	.	0.646620756021	0.64369	0.21669478757807523	0.21585	0.227534518644	0.25305	0.722744703293	0.70446	T	0.001115	0.00627	T	-0.287486	0.09890	T	-0.296696	0.45071	T	0.0617919960242716	0.07448	T	0.861714	0.55578	D	0.05000279	0.08965	0.08630151	0.19986	0.05000279	0.08964	0.08630151	0.19986	-2.695	0.07261	T	.	.	0.125	0.26325	B	.	.	2.472228	0.31864	18.87	0.44411233724811483	0.03412	0.76181	0.37344	D	AEFBI	0.205744	0.33207	N	-0.326572885451597	0.28142	1.549804	-0.0776599569922123	0.36315	2.111869	0.662579577522408	0.22287	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.35	5.35	0.76297	3.141000	0.50288	5.085000	0.47302	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0798:0.0:0.9202	9.539	0.38405	893	0.26510	Importin-beta, N-terminal domain|Importin-beta, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	809.98	33	chr5	170878191	.	T	C	809.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.120e-01;DP=768;ExcessHet=0.0000;FS=0.893;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.80;ReadPosRankSum=0.059;SOR=0.512	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr5	170909677	170909677	C	G	exonic	RANBP17	.	nonsynonymous SNV	RANBP17:NM_022897:exon6:c.C506G:p.P169R,	.	.	.	.	.	.	.	.	.	.	.	2825564	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.964	D	0.573	P	0.003	N	0.998	D	1.83	L	-0.22	T	-0.493	T	0.316	T	0.649	4.156	21.5	5.36	2.676	6.412	17.230	0.243	0.0195595117723	0.0014	0.00139776	0.0010	0.0002	0.0009	0	0.0008	0.0015	0	0.0005	0.001009	156	154602	rs139178386	0.0013	0.0013	0.0013	0.0013	0.0015	0.0013	0.0012	0.0014	0.0014	0.0004	0.0014	0.0014	0	0.0006	0.0007	0.0015	0.0010	0.0004	0.0009	0.0009	0.0009	0.0009	0.0020	0.0008	0.0007	0.0014	0.0012	0.0001	0	0.0020	0.0015	0	0.0005	0	0.0013	0.0015	0.0002	0.005	0.63226	D	0.017	0.60337	D	0.964	0.55854	D	0.573	0.49966	P	0.002856	0.35836	N	0.199870	0.998293	0.44734	D	1.935	0.51832	L	-0.22	0.66474	T	-3.29	0.65742	D	0.733	0.73375	-0.4928	0.68909	T	0.316	0.68611	T	10	0.11552614	0.21767	T	0.01956	0.41954	T	0.243	0.54921	.	.	0.826373365844	0.82472	0.2573738587702747	0.25651	0.0782145705475	0.08799	0.477635145187	0.35731	T	0.068847	0.33560	T	-0.204735	0.20126	T	-0.0969432	0.63633	T	0.0811323449015617	0.10132	T	0.872413	0.57909	D	0.2731005	0.50378	0.22266342	0.47118	0.2731005	0.50378	0.22266342	0.47117	-10.196	0.75076	D	.	.	0.732	0.74270	P	.	.	4.655188	0.74246	26.1	0.9953604953727736	0.70212	0.99311	0.94324	D	AEFBI	0.723771	0.67328	D	0.511614304102921	0.67774	5.126925	0.575778554350125	0.73207	5.933004	0.999971775491391	0.50053	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	6.744000	0.74653	7.723000	0.67399	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	17.230	0.86864	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1016.98	41	chr5	170909677	.	C	G	1016.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=895;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.283;SOR=0.653	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1462	20	0	1	0
chr5	172093930	172093930	-	AGA	exonic	STK10	.	nonframeshift insertion	STK10:NM_005990:exon9:c.1035_1036insTCT:p.S345_E346insS,	.	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	.	0.0003	0.0001	0.0003	0	0	0.0004	0.0039	0	0.0002264	35	154602	rs777255193	0.0002	0.0002	0.0002	0.0002	0.0048	0.0001	0.0001	0.0033	0.0028	0.0002	0.0001	0.0032	0	0	0.0048	8.749e-05	0.0006	2.856e-05	0.0003	0.0003	0.0002	0.0003	0.0002	0.0002	0.0002	0.0001	8.881e-05	9.634e-05	0	0.0001	0.0046	0	0	0.0068	0.0002	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	717.94	33	chr5	172093930	.	C	CAGA	717.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.690e-01;DP=604;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=27.61;ReadPosRankSum=1.11;SOR=0.491	GT:AD:DP:GQ:PL	0/0:31,0:31:75:0,75,1125	20	0	1	0
chr5	172339630	172339630	T	G	exonic	SH3PXD2B	.	nonsynonymous SNV	SH3PXD2B:NM_001017995:exon13:c.A1475C:p.K492T,	Frank-ter Haar syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1043495	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.651	P	0.115	B	0.055	N	1.000	N	1.67	L	0.05	T	-0.876	T	0.167	T	0.705	0.309	5.676	4.53	0.972	5.469	10.427	0.259	0.0386450608919	.	.	2.472e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs753812941	1.163e-05	1.163e-05	5.445e-06	1.788e-05	0.0002	7.08e-06	5.79e-06	0.0001	9.45e-05	0	0	0	0	0	0.0002	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.376	0.16182	T	0.651	0.40707	P	0.115	0.31843	B	0.055035	0.22675	N	0.474716	0.999957	0.52396	D	2.39	0.68882	M	0.05	0.61923	T	-2.04	0.46842	N	0.344	0.38541	-0.8756	0.50105	T	0.167	0.50551	T	9	0.19488448	0.35318	T	0.038645	0.58347	D	0.259	0.57090	0.386	0.40624	0.614323175037	0.61121	0.22988917374426687	0.22903	0.268327182844	0.29355	0.509713828564	0.40182	T	0.055763	0.30098	T	-0.061583	0.42659	T	-0.0665571	0.65871	T	0.209507912397385	0.20928	T	0.781022	0.41604	T	0.14690028	0.33607	0.13683142	0.32722	0.14690028	0.33607	0.13683142	0.32722	-3.579	0.17553	T	0.17047236126087026	0.21436	0.147	0.32445	B	.	.	3.538943	0.49694	22.8	0.97462838499979942	0.34095	0.98650	0.85139	D	AEFDBI	0.435373	0.49604	N	-0.0628734453264146	0.39030	2.29515	-0.0377269431331513	0.38025	2.234534	0.315664209383803	0.19332	0.67177	0.52595	0	0.588015	0.36545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.71	4.53	0.55009	3.917000	0.56136	7.956000	0.75945	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.012000	0.09680	0.1461:0.0:0.0:0.8539	10.427	0.43570	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2394.98	33	chr5	172339630	.	T	G	2394.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.980e-01;DP=903;ExcessHet=0.0000;FS=3.192;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=-6.840e-01;SOR=0.725	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1281	20	0	1	0
chr5	172897055	172897055	G	A	exonic	ERGIC1	.	nonsynonymous SNV	ERGIC1:NM_001031711:exon3:c.G136A:p.G46R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.99	D	0.666	P	0.000	D	1.000	D	0.84	L	.	.	-1.011	T	0.138	T	0.844	3.624	18.44	4.86	2.239	6.780	13.513	0.218	0.00881107248658	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs777001809	1.231e-05	1.231e-05	9.529e-06	1.513e-05	0.0002	7.7e-06	6.35e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	8.094e-06	4.968e-05	5.797e-05	1.971e-05	1.97e-05	3.854e-05	0	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.072	0.40832	T	0.337	0.20293	T	0.99	0.63424	D	0.666	0.52990	P	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	1.13	0.28900	L	.	.	.	-1.22	0.38345	N	0.886	0.88466	-1.0111	0.26573	T	0.138	0.45489	T	9	0.5309372	0.63179	D	0.008811	0.23245	T	0.218	0.51265	0.516	0.61611	0.465923304355	0.46219	0.922069068733519	0.92183	1.00697876116	0.74614	0.808284163475	0.83229	D	0.050415	0.28589	T	0.241548	0.77808	D	0.206044	0.83457	D	0.809576392173767	0.47017	D	0.956904	0.84924	D	0.32251948	0.54851	0.23987906	0.49349	0.32251948	0.54851	0.23987906	0.49348	-4.749	0.33991	T	0.14740601947882567	0.17081	0.578	0.68450	P	.;.;.	.;.;.	5.323784	0.89355	30	0.99840689568539209	0.92143	0.93710	0.58970	D	AEFGBI	0.757990	0.69677	D	0.350314360546583	0.58756	4.049912	0.408501373619619	0.62094	4.419145	0.999999964627648	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635259	0.50027	0	.	.	4.86	4.86	0.62624	6.968000	0.75873	11.631000	0.93702	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.0:0.0:1.0:0.0	13.513	0.60980	968	0.07033	Endoplasmic reticulum vesicle transporter, N-terminal;Endoplasmic reticulum vesicle transporter, N-terminal;Endoplasmic reticulum vesicle transporter, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1660.98	43	chr5	172897055	.	G	A	1660.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.18;DP=904;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.08;ReadPosRankSum=0.259;SOR=0.672	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1039	20	0	1	0
chr5	173323265	173323265	G	A	exonic	STC2	.	nonsynonymous SNV	STC2:NM_003714:exon3:c.C460T:p.R154W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.994	D	0.72	P	0.077	N	1.000	N	0	N	.	.	-0.993	T	0.084	T	0.418	3.604	18.34	4.55	1.255	4.249	15.815	0.050	0.0148198081827	.	.	1.653e-05	0	0	0.0001	0.0002	0	0	0	1.29e-05	2	154602	rs148514784	1.026e-05	1.026e-05	1.089e-05	9.625e-06	0.0001	6.16e-06	4.89e-06	4.907e-05	3.165e-05	0	0	0	0.0001	1.872e-05	0	6.295e-06	1.656e-05	1.159e-05	6.573e-06	6.567e-06	0	1.346e-05	.	0	0	.	.	0	0	0	0	0	9.422e-05	0	0	0	0	0.003	0.68238	D	0.024	0.56640	D	0.994	0.66517	D	0.72	0.54860	P	0.076943	0.21133	N	0.531595	0.999997	0.08975	N	0	0.06538	N	.	.	.	-2.71	0.57762	D	0.464	0.50056	-0.9933	0.31749	T	0.084	0.32843	T	9	0.39025292	0.54839	T	0.01482	0.35183	T	0.354	0.67510	0.452	0.51448	0.107399877778	0.10242	0.544234228991316	0.54349	1.07548936092	0.76945	0.198353558779	0.00410	T	0.56403	0.85455	D	-0.234934	0.16001	T	-0.283094	0.46486	T	0.522324689734566	0.33451	D	0.941806	0.78262	D	0.097124636	0.22888	0.12052806	0.29086	0.097124636	0.22887	0.12052806	0.29085	-6.061	0.46786	T	.	.	0.124	0.26169	B	.	.	4.409701	0.68213	25.2	0.99905740056866466	0.97651	0.84550	0.43633	D	AEFDBHCI	0.723826	0.67332	D	0.0795683212026607	0.45511	2.806351	0.0635653241932234	0.42731	2.589855	0.999999956542271	0.74766	0.706548	0.73137	0	0.659912	0.62753	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.44	4.55	0.55429	4.350000	0.59169	4.680000	0.44317	0.676000	0.76740	0.998000	0.41325	0.936000	0.28664	0.853000	0.40368	0.0:0.1411:0.8589:0.0	15.815	0.78370	326	0.86709	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1195.98	35	chr5	173323265	.	G	A	1195.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.000e-03;DP=801;ExcessHet=0.0000;FS=0.717;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=0.512;SOR=0.781	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1278	20	0	1	0
chr5	173608292	173608292	-	CTTAGGAAGTGTCCTGGGATGGAGCTGGAGGGTCCTGGCCTTCGGGCTCTGGAGGGGGTG	exonic	BOD1	.	nonframeshift insertion	BOD1:NM_001159651:exon3:c.362_363insCACCCCCTCCAGAGCCCGAAGGCCAGGACCCTCCAGCTCCATCCCAGGACACTTCCTAAG:p.Q121delinsHTPSRARRPGPSSSIPGHFLR,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.988e-05	0.0001	4.518e-05	3.453e-05	0.0001	3.129e-05	2.861e-05	4.364e-05	2.77e-05	9.008e-05	0.0001	0.0001	0	7.504e-05	0	3.257e-05	8.308e-05	2.323e-05	0.0002	0.0013	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0004	0	0.0002	0	0	0.0003	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	116.94	133	chr5	173608292	.	T	TCTTAGGAAGTGTCCTGGGATGGAGCTGGAGGGTCCTGGCCTTCGGGCTCTGGAGGGGGTG	116.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.60;DP=957;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.19;MQRankSum=-5.744e+00;QD=1.44;ReadPosRankSum=-9.220e-01;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485	20	0	1	0
chr5	175964993	175964993	A	G	exonic	THOC3	.	nonsynonymous SNV	THOC3:NM_001376902:exon3:c.T587C:p.M196T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.001	B	0.01	B	0.000	D	1.000	D	-0.345	N	5.09	T	-0.615	T	0.003	T	0.81	2.319	13.71	4.97	1.859	9.295	13.809	0.342	0.0495625733992	.	.	.	.	.	.	.	.	.	.	.	.	.	rs774263540	0	6.86e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.431	0.16037	T	0.0	0.02946	B	0.001	0.04355	B	0.000001	0.62929	D	0.127824	1	0.81001	D	1.04	0.26193	L	5.09	0.01238	T	-2.34	0.51811	N	0.866	0.86297	-0.6148	0.64205	T	0.003	0.01026	T	10	0.52397704	0.62803	D	0.049563	0.63867	D	0.342	0.66392	0.418	0.45873	0.0920862733494	0.08535	0.46133492882702487	0.46051	.	.	0.894206643105	0.95773	D	0.048212	0.27950	T	0.0652997	0.60273	T	-0.143978	0.59772	T	0.938771307468414	0.60967	D	0.910909	0.68443	D	0.39631137	0.60476	0.21488133	0.46055	0.39631137	0.60477	0.21488133	0.46054	-9.166	0.69632	D	.	.	0.215	0.49461	B	.;.	.;.	4.253408	0.64587	24.7	0.95433474359174064	0.26929	0.98394	0.82329	D	AEGI	0.955402	0.97322	D	-0.161628468267979	0.34742	1.986722	0.0853018091966509	0.43808	2.674986	0.996726101299099	0.34958	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	4.97	4.97	0.65419	9.281000	0.95000	11.126000	0.86672	0.725000	0.85415	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.809	0.62741	765	0.49814	Translation initiation factor, beta propellor-like domain|WD40-repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	203.98	35	chr5	175964993	.	A	G	203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.247e+00;DP=590;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0248;MLEAC=1;MLEAF=0.024;MQ=38.19;MQRankSum=0.549;QD=5.37;ReadPosRankSum=0.116;SOR=0.134	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1380	20	0	1	0
chr5	175968055	175968055	G	-	exonic	THOC3	.	frameshift deletion	THOC3:NM_001376902:exon1:c.154delC:p.L52Wfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003458	9	26028	rs11297802	0	1.847e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.641e-06	0.0004	1.298e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	79.94	34	chr5	175968054	.	AG	A	79.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=741;ExcessHet=0.0000;FS=10.780;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.09;MQRankSum=-4.363e+00;QD=1.43;ReadPosRankSum=-3.739e+00;SOR=3.160	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1078	20	0	1	0
chr5	176098515	176098515	A	G	exonic	FAM153B	.	nonsynonymous SNV	FAM153B:NM_001265615:exon8:c.A263G:p.H88R,	.	.	443	1078	1	0	0	1	0.000463607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.0	B	0.0	B	.	.	1.000	N	0	N	.	.	-1.026	T	0.012	T	0.378	-2.293	0.004	-2.76	-1.179	-0.169	2.478	0.049	.	0.0089	.	0.0033	0.0411	0.0012	0.0001	0	0	0	0	3.84e-05	1	26028	rs200283180	0.0008	0.0009	0.0009	0.0007	0.0339	0.0008	0.0008	0.0321	0.0313	0.0339	0.0010	0	0	0	0.0009	8.284e-06	0.0018	9.764e-05	0.0072	0.0078	0.0073	0.0071	0.0313	0.0068	0.0066	0.0294	0.0286	0.0313	0	0.0016	0	0	0	0	3.811e-05	0.0023	0	0.0	0.91255	D	0.117	0.92824	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.67	0.54382	N	0.073	0.04668	-1.0257	0.21853	T	0.012	0.04463	T	8	0.004298568	0.00086	T	.	.	.	0.049	0.13647	.	.	0.082315109003	0.07666	0.028005918680444053	0.02750	.	.	0.526669621468	0.42565	T	0.031536	0.22084	T	-0.453256	0.01080	T	-0.400163	0.33364	T	0.0105319072926658	0.00146	T	0.248675	0.03700	T	0.032994315	0.03432	0.029673496	0.01332	0.032994315	0.03432	0.029673496	0.01332	-3.236	0.12926	T	.	.	0.156	0.40794	B	.;.;.;.	.;.;.;.	0.222183	0.06044	2.486	0.09903918931725153	0.00112	0.00312	0.01649	N	AEFI	0.031237	0.03297	N	-1.7118535254222	0.00800	0.03459238	-1.79287271009527	0.00782	0.03489414	6.33886392642029E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.38	-2.76	0.05547	-0.880000	0.04291	-3.067000	0.03091	-0.736000	0.03693	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.2329:0.3901:0.0:0.377	2.478	0.04301	882	0.29131	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	750.98	39	chr5	176098515	.	A	G	750.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.823e+00;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=40.18;MQRankSum=0.771;QD=7.99;ReadPosRankSum=-1.161e+00;SOR=0.482	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1800	20	0	1	0
chr5	176238585	176238585	G	A	exonic	SIMC1	.	nonsynonymous SNV	SIMC1:NM_001308195:exon1:c.G77A:p.R26K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.927	P	0.953	D	.	.	1.000	N	0.695	N	1.85	T	-1.065	T	0.096	T	0.124	1.142	9.652	1.99	1.423	2.735	7.492	0.102	0.623530419659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.77e-06	7.525e-06	0	3.645e-06	2.688e-05	2.9e-07	1.1e-07	.	.	0	0	0	0	0	0	1.06e-06	0	2.688e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	1.0	0.13441	T	0.756	0.43409	P	0.567	0.49782	P	.	.	.	.	1	0.81001	D	.	.	.	1.85	0.27331	T	0.05	0.08033	N	0.285	0.32259	-1.0651	0.10526	T	0.096	0.36238	T	9	0.22926745	0.39851	T	0.62353	0.96747	D	0.102	0.29158	0.197	0.10975	0.348101942276	0.34424	0.1464323394786942	0.14565	1.17859640205	0.79955	.	.	.	0.005677	0.05129	T	-0.195466	0.21460	T	-0.51855	0.20443	T	0.545919299125671	0.34325	D	0.365963	0.08520	T	.	.	.	.	.	.	.	.	-4.634	0.32596	T	.	.	0.212	0.53648	B	.;.;.	.;.;.	3.745798	0.53668	23.4	0.9586406606775475	0.28027	0.43858	0.27191	N	AEFDGBCI	0.175574	0.30276	N	-0.0399637613033951	0.40051	2.372041	-0.12101812924847	0.34543	1.98822	0.806062573991594	0.24272	0.65757	0.49021	0	0.218748	0.04544	0	0.619478	0.44681	0	0.56751	0.32155	0	.	.	1.99	1.99	0.25423	2.763000	0.47287	9.462000	0.80861	0.476000	0.22017	1.000000	0.71638	1.000000	0.68203	0.103000	0.18424	0.0:0.0:1.0:0.0	7.492	0.26633	861	0.33516	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	700.98	33	chr5	176238585	.	G	A	700.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.566;DP=844;ExcessHet=0.0000;FS=3.114;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.03;MQRankSum=0.227;QD=9.22;ReadPosRankSum=1.99;SOR=0.504	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1007	20	0	1	0
chr5	176366382	176366382	-	GAGGACGAG	exonic	ARL10	.	nonframeshift insertion	ARL10:NM_001317948:exon2:c.186_187insGAGGACGAG:p.E69_P70insDEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.555e-05	0	0	0	0	8.559e-05	0.0018	0.0002	3.84e-05	1	26028	rs771899480	4.124e-05	4.104e-05	3.556e-05	4.698e-05	8.161e-05	3.26e-05	2.933e-05	3.784e-05	2.839e-05	2.996e-05	0	0	7.582e-05	0	0	4.141e-05	4.997e-05	8.161e-05	1.97e-05	1.968e-05	2.569e-05	1.343e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	681.94	37	chr5	176366382	.	C	CGAGGACGAG	681.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.780e-01;DP=694;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=29.65;ReadPosRankSum=-1.760e-01;SOR=0.420	GT:AD:DP:GQ:PL	0/0:32,0:32:90:0,90,1350	20	0	1	0
chr5	176371743	176371743	A	G	exonic	ARL10	.	nonsynonymous SNV	ARL10:NM_173664:exon4:c.A583G:p.M195V,	.	.	424	1086	10	2	0	14	0.00640439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.0	B	0.001	B	0.004	N	1.000	N	-1.77	N	0.05	T	-0.948	T	0.057	T	0.102	-0.249	2.802	-0.71	-0.331	0.195	6.211	0.050	.	0.0005	0.00139776	0.0020	0	0.0010	0	0	0.0010	0	0.0104	0.0016947	262	154602	rs143925981	0.0010	0.0010	0.0008	0.0013	0.0094	0.0010	0.0010	0.0089	0.0087	0.0001	0.0006	0.0070	5.038e-05	0	0.0028	0.0003	0.0016	0.0094	0.0008	0.0008	0.0007	0.0009	0.0085	0.0007	0.0007	0.0064	0.0057	0.0001	0	0.0010	0.0055	0	0	0.0068	0.0006	0.0009	0.0085	0.75	0.03587	T	0.73	0.05165	T	0.0	0.02946	B	0.001	0.04355	B	0.003856	0.00988	N	2.793670	0.999914	0.19599	N	-2.11	0.00152	N	0.05	0.61923	T	0.94	0.01529	N	0.089	0.06720	-0.9479	0.41330	T	0.057	0.23866	T	10	0.0022372305	0.00033	T	.	.	.	0.050	0.13987	.	.	0.455081427078	0.45129	0.4481407354553157	0.44732	0.464258406265	0.45902	0.230897173285	0.02035	T	0.01069	0.09625	T	-0.588691	0.00171	T	-0.610429	0.11950	T	0.00481901478009985	0.00052	T	0.550145	0.18957	T	0.039028455	0.05311	0.042416707	0.05048	0.039028455	0.05311	0.042416707	0.05048	0.068	0.00326	T	.	.	0.054	0.00334	B	.	.	-0.456283	0.02011	0.179	0.63170296156131933	0.07153	0.01677	0.05358	N	AEFDBI	0.019351	0.00664	N	-1.50154929814924	0.01840	0.08067487	-1.36416195918019	0.03642	0.1703006	0.999439475591971	0.39683	0.651	0.46895	0	0.708844	0.79440	0	0.566861	0.19136	0	0.635551	0.53088	0	.	.	5.39	-0.71	0.10668	-0.014000	0.12594	-0.554000	0.08512	-0.208000	0.08445	0.000000	0.06391	0.000000	0.08366	0.895000	0.43227	0.4842:0.1296:0.3862:0.0	6.211	0.19843	474	0.77851	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1893.98	41	chr5	176371743	.	A	G	1893.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.26;DP=918;ExcessHet=0.0000;FS=1.962;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=-7.480e-01;SOR=0.854	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1253	20	0	1	0
chr5	176384078	176384078	C	T	exonic	NOP16	.	nonsynonymous SNV	NOP16:NM_001256539:exon5:c.G602A:p.R201H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.001	N	1.000	N	.	.	.	.	-1.009	T	0.077	T	.	0.246	5.330	-7.37	-3.347	-0.722	2.125	0.045	.	.	.	0.0002	0	0	0	0	0.0006	0	0	3.88e-05	6	154602	rs776470859	3.967e-05	4.036e-05	3.597e-05	4.342e-05	0.0002	3.1e-05	2.831e-05	3.916e-05	3.514e-05	0	0	0	0	0	0.0002	4.98e-05	0	1.184e-05	5.924e-05	5.912e-05	7.722e-05	4.042e-05	0.0001	3.082e-05	2.214e-05	6.803e-05	5.087e-05	0	0	0	0	0	0	0	0.0001	0	0	.	.	.	0.6	0.07972	T	.	.	.	.	.	.	0.001406	0.00781	N	4.856940	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.103	0.08646	-1.0089	0.27261	T	0.077	0.30859	T	6	0.051463008	0.05031	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.04680254068975751	0.04623	.	.	.	.	.	0.003154	0.02556	T	-0.495858	0.00603	T	-0.774195	0.02633	T	0.044076672969173	0.04434	T	0.445455	0.12454	T	.	.	.	.	.	.	.	.	-4.284	0.27952	T	.	.	0.075	0.05404	B	.;.	.;.	-0.454564	0.02017	0.180	0.82582427401978442	0.14267	0.08349	0.14290	N	AEFBCI	0.003825	0.00001	N	-1.23954878767946	0.04438	0.2003309	-1.50416940092212	0.02312	0.1061286	0.999999973162701	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	3.68	-7.37	0.01266	-2.015000	0.01536	0.168000	0.15485	-0.567000	0.04800	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1403:0.1996:0.3936:0.2664	2.125	0.03508	463	0.78548	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1826.98	43	chr5	176384078	.	C	T	1826.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.480e-01;DP=924;ExcessHet=0.0000;FS=0.564;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.15;ReadPosRankSum=0.051;SOR=0.769	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1281	20	0	1	0
chr5	176529760	176529760	C	T	exonic	RNF44	.	nonsynonymous SNV	RNF44:NM_014901:exon8:c.G985A:p.V329M,	.	.	421	1092	9	0	0	9	0.00410397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.991	D	0.000	D	1.000	D	1.39	L	2.6	T	-1.090	T	0.095	T	0.675	4.766	26.7	5.01	2.606	7.235	18.111	0.142	0.0353931362956	0.0009	0.000399361	0.0008	0.0017	0.0008	0	0	0.0004	0.0013	0.0025	0.000608	94	154602	rs114764573	0.0005	0.0005	0.0004	0.0005	0.0020	0.0005	0.0004	0.0018	0.0017	0.0013	0.0010	7.696e-05	7.559e-05	0	0.0017	0.0004	0.0005	0.0020	0.0006	0.0006	0.0005	0.0007	0.0012	0.0005	0.0005	0.0009	0.0008	0.0012	0	0.0009	0	0	0	0	0.0003	0.0005	0.0008	0.004	0.65419	D	0.067	0.44302	T	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999903	0.50806	D	2.125	0.59049	M	2.32	0.16640	T	-0.93	0.24898	N	0.608	0.62526	-1.0897	0.05582	T	0.095	0.35871	T	10	0.0330607	0.01472	T	0.035393	0.56317	D	0.185	0.45933	.	.	0.322284741503	0.31843	0.6353027133647586	0.63464	0.730750437369	0.62720	0.798013031483	0.81661	T	0.031629	0.22129	T	-0.318574	0.07015	T	-0.23717	0.51074	T	0.0299282090100239	0.01979	T	0.940306	0.77472	D	0.29831415	0.52753	0.18525375	0.41628	0.29831415	0.52753	0.18525375	0.41627	-7.586	0.58213	D	.	.	0.194	0.41387	B	.	.	4.681300	0.74923	26.2	0.9988003132044303	0.95653	0.97183	0.73178	D	AEFDBCI	0.812928	0.73553	D	0.698375978476868	0.79523	7.096189	0.694251073471682	0.81941	7.646069	0.999999999999993	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.01	5.01	0.66477	4.719000	0.61629	3.997000	0.41039	0.513000	0.23382	1.000000	0.71638	0.999000	0.35428	0.960000	0.51673	0.0:1.0:0.0:0.0	18.111	0.89466	526	0.73951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2220.11	38	chr5	176529760	.	C	T	2220.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.61;DP=1027;ExcessHet=0.1072;FS=2.311;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.00;ReadPosRankSum=1.24;SOR=0.803	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	19	0	2	0
chr5	176532411	176532411	C	T	exonic	RNF44	.	nonsynonymous SNV	RNF44:NM_014901:exon2:c.G62A:p.R21Q,	.	.	365	1139	17	1	0	19	0.00827166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.688	P	0.215	B	0.000	N	1.000	D	1.61	L	2.3	T	-1.091	T	0.017	T	0.096	2.425	14.07	1.11	0.109	0.848	8.506	0.074	.	0.0007	0.0061901	0.0024	0.0004	0	0.0227	0	0.0008	0.0031	0.0010	0.0020246	313	154602	rs117169793	0.0013	0.0013	0.0013	0.0013	0.0167	0.0013	0.0013	0.0157	0.0152	0.0002	0.0003	0.0001	0.0167	0	0.0068	0.0009	0.0023	0.0012	0.0013	0.0013	0.0012	0.0015	0.0226	0.0012	0.0011	0.0192	0.0180	0.0002	0	0.0001	0	0.0226	0	0.0034	0.0008	0.0024	0.0025	0.084	0.32929	T	0.526	0.10245	T	0.688	0.41582	P	0.215	0.37512	B	0.000038	0.55875	N	0.067181	0.999995	0.58761	D	1.7	0.43825	L	2.3	0.16953	T	-0.43	0.14390	N	0.237	0.26717	-1.0909	0.05383	T	0.017	0.06950	T	10	0.0046691	0.00098	T	.	.	.	0.074	0.21613	.	.	0.454055122543	0.45028	0.2198440854494892	0.21900	0.217361421455	0.24254	0.356805920601	0.18919	T	0.032138	0.22356	T	-0.631591	0.00093	T	-0.662427	0.08104	T	0.0163321514030714	0.00403	T	0.732627	0.34815	T	0.045558225	0.07478	0.048306227	0.07148	0.045558225	0.07478	0.048306227	0.07147	-5.142	0.38346	T	.	.	0.070	0.03625	B	.	.	1.693977	0.21581	15.26	0.98692335907347883	0.44780	0.34749	0.25140	N	AEFDBCI	0.123638	0.23933	N	-0.612480055738316	0.18569	0.9650616	-0.709287229893424	0.16729	0.8863701	0.999988782678261	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	3.88	1.11	0.19640	1.223000	0.32131	-0.640000	0.08082	-0.186000	0.09761	0.477000	0.26777	0.001000	0.17328	0.910000	0.44547	0.0:0.7394:0.0:0.2606	8.506	0.32351	522	0.74218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	887.98	34	chr5	176532411	.	C	T	887.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.990e-01;DP=816;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.09;ReadPosRankSum=0.872;SOR=0.693	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,103,1415	20	0	1	0
chr5	176575579	176575579	C	T	exonic	CDHR2	.	nonsynonymous SNV	CDHR2:NM_001171976:exon10:c.C842T:p.S281F	.	.	426	1089	7	0	0	7	0.00320366	0.9996	0.972	2305511	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	0.942	P	0.823	P	.	.	0.868	D	1.575	L	0.58	T	-0.575	T	0.235	T	0.428	3.079	16.28	4.27	2.197	1.250	14.668	0.237	0.109617972318	0.0003	0.00119808	0.0003	9.651e-05	0.0003	0	0	0.0005	0	0.0001	0.0003493	54	154602	rs144549731	0.0004	0.0004	0.0004	0.0004	0.0052	0.0003	0.0003	0.0037	0.0032	5.974e-05	0.0006	0	0	0	0.0052	0.0004	0.0008	0.0002	0.0003	0.0003	0.0004	0.0002	0.0007	0.0002	0.0002	0.0004	0.0003	7.217e-05	0	0.0007	0	0	0	0.0034	0.0004	0	0.0004	0.005	0.63226	D	0.002	0.79402	D	0.942	0.52977	P	0.823	0.59197	P	.	.	.	.	0.867816	0.35506	D	1.87	0.49600	L	0.58	0.54149	T	-3.16	0.64246	D	0.565	0.59478	-0.5750	0.65816	T	0.235	0.60234	T	9	0.22237495	0.38988	T	0.109618	0.78666	D	0.237	0.54074	.	.	0.672348424749	0.66957	0.23099209589443323	0.23014	0.579986830217	0.53854	0.442862004042	0.30969	T	0.02031	0.16015	T	-0.298101	0.08840	T	-0.304068	0.44293	T	0.187617853283882	0.19703	T	0.794521	0.43681	T	0.4138759	0.61682	0.44913152	0.67933	0.4138759	0.61682	0.44913152	0.67934	-4.73	0.33765	T	.	.	0.230	0.47708	B	.;.;.	.;.;.	4.810763	0.78262	26.9	0.99773742327722725	0.86174	0.88695	0.48745	D	AEFBI	0.516531	0.54302	D	0.300237858891831	0.56162	3.780484	0.255094920129828	0.52940	3.465581	0.898056707548151	0.26016	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.27	4.27	0.50009	0.968000	0.28955	4.729000	0.44544	0.500000	0.22704	0.981000	0.35396	1.000000	0.68203	0.716000	0.34643	0.0:1.0:0.0:0.0	14.668	0.68528	373	0.84140	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	972.98	45	chr5	176575579	.	C	T	972.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.540e-01;DP=990;ExcessHet=0.0000;FS=2.030;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.31;ReadPosRankSum=1.56;SOR=0.721	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	20	0	1	0
chr5	176581538	176581538	G	A	exonic	CDHR2	.	nonsynonymous SNV	CDHR2:NM_001171976:exon17:c.G2014A:p.E672K	.	.	430	1084	8	0	0	8	0.00367647	.	.	2825583	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.9	T	0.686	P	0.051	B	.	.	1.000	N	1.235	L	0.71	T	-1.045	T	0.047	T	0.151	1.317	10.32	1.71	0.032	-0.023	9.320	0.132	0.0116161926537	0.0063	0.00299521	0.0047	0.0011	0.0038	0	0.0023	0.0073	0.0033	0.0008	0.0051487	796	154602	rs72809131	0.0068	0.0068	0.0069	0.0067	0.0135	0.0067	0.0066	0.0111	0.0102	0.0013	0.0051	0.0060	5.038e-05	0.0024	0.0135	0.0079	0.0071	0.0011	0.0052	0.0052	0.0055	0.0048	0.0075	0.0049	0.0047	0.0069	0.0067	0.0017	0.0132	0.0074	0.0084	0	0.0016	0.0306	0.0075	0.0104	0.0008	0.35	0.12305	T	0.916	0.02908	T	0.686	0.41548	P	0.051	0.25434	B	.	.	.	.	1	0.08975	N	0.645	0.16088	N	0.71	0.51228	T	-0.58	0.17417	N	0.234	0.26354	-1.0449	0.15854	T	0.047	0.19958	T	9	0.012528747	0.00269	T	0.011616	0.29427	T	0.132	0.35948	.	.	0.320256813643	0.31633	0.2767555156366929	0.27588	0.168167463028	0.18958	0.289772123098	0.08889	T	0.002327	0.01720	T	-0.585093	0.00179	T	-0.607673	0.12175	T	0.00595349195590494	0.00065	T	0.475352	0.14216	T	0.026620148	0.01743	0.040275	0.04316	0.026620148	0.01743	0.040275	0.04315	-5.064	0.37526	T	.	.	0.073	0.04599	B	.;.;.	.;.;.	0.527590	0.08965	5.744	0.99385538014810093	0.62068	0.05665	0.11580	N	AEFDBI	0.121819	0.23666	N	-0.832796846233315	0.12477	0.6084458	-0.895919729694552	0.12191	0.6256208	0.00323509924357045	0.10007	0.497415	0.19182	0	0.547309	0.14657	0	0.59043	0.30614	0	0.613276	0.41899	0	.	.	5.47	1.71	0.23429	0.002000	0.12962	-1.182000	0.06094	-0.117000	0.14459	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3626:0.0:0.6374:0.0	9.320	0.37124	373	0.84140	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1148.98	39	chr5	176581538	.	G	A	1148.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.589;DP=764;ExcessHet=0.0000;FS=0.886;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.73;ReadPosRankSum=-2.290e-01;SOR=0.897	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1121	20	0	1	0
chr5	176584556	176584556	C	T	exonic	CDHR2	.	nonsynonymous SNV	CDHR2:NM_001171976:exon19:c.C2275T:p.R759W	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.0	B	0.001	B	.	.	1.000	N	0.115	N	1.06	T	-1.046	T	0.035	T	0.174	0.372	6.019	-2.31	-0.525	-0.005	6.166	0.028	.	0.0027	0.00399361	0.0009	0.0093	0.0005	0	0	0	0	0.0003	0.0008473	131	154602	rs115808179	0.0002	0.0002	0.0003	0.0002	0.0071	0.0002	0.0002	0.0064	0.0061	0.0071	0.0008	0	0	1.879e-05	0.0007	2.881e-05	0.0006	9.307e-05	0.0027	0.0027	0.0026	0.0027	0.0084	0.0025	0.0024	0.0076	0.0074	0.0084	0	0.0031	0	0.0002	0	0	5.88e-05	0.0028	0.0002	0.058	0.37750	T	0.049	0.48336	D	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999998	0.08975	N	0.255	0.09829	N	1.06	0.39781	T	0.05	0.06369	N	0.174	0.18649	-1.0455	0.15680	T	0.035	0.15204	T	9	0.010350138	0.00231	T	.	.	.	0.028	0.06331	.	.	0.0666544352282	0.05500	0.31865675236647656	0.31778	0.150943117888	0.17036	0.181885242462	0.00112	T	0.005923	0.05364	T	-0.600228	0.00145	T	-0.628423	0.10535	T	0.00634527953363374	0.00070	T	0.676232	0.28483	T	0.10651739	0.25186	0.099119045	0.23655	0.10651739	0.25186	0.099119045	0.23654	-4.938	0.36159	T	.	.	0.049	0.00117	B	.;.;.	.;.;.	0.137222	0.05316	1.808	0.90446810042734072	0.19706	0.00919	0.03578	N	AEFBI	0.148782	0.27274	N	-1.45778844182989	0.02156	0.09490395	-1.44883261806746	0.02780	0.1285196	0.00403495588630131	0.10389	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.12	-2.31	0.06380	0.119000	0.15456	-3.013000	0.03141	-2.836000	0.00176	0.031000	0.20493	0.000000	0.08366	0.001000	0.02609	0.1193:0.3899:0.0:0.4907	6.166	0.19604	373	0.84140	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2659.98	38	chr5	176584556	.	C	T	2659.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.090e-01;DP=1208;ExcessHet=0.0000;FS=1.121;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=0.722;SOR=0.626	GT:AD:DP:GQ:PL	0/0:76,0:76:99:0,120,1800	20	0	1	0
chr5	176597314	176597314	T	C	exonic	GPRIN1	.	nonsynonymous SNV	GPRIN1:NM_052899:exon2:c.A2521G:p.S841G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.936	P	0.553	P	0.207	N	0.780	N	1.995	M	2.78	T	-1.081	T	0.036	T	0.098	2.510	14.35	3.0	0.478	2.297	8.064	0.089	.	.	0.00339457	.	.	.	.	.	.	.	.	0.0006531	17	26028	rs574374817	0.0002	0.0002	0.0002	0.0002	0.0073	0.0002	0.0002	0.0064	0.0060	0.0073	0.0017	0	0	0	0	1.083e-05	0.0005	0	0.0027	0.0026	0.0026	0.0027	0.0084	0.0024	0.0024	0.0077	0.0074	0.0084	0	0.0031	0	0	0	0	1.475e-05	0.0029	0	0.004	0.65419	D	0.014	0.62352	D	0.936	0.52359	P	0.553	0.49313	P	0.207331	0.16450	N	0.485711	0.780172	0.29341	N	0	0.06538	N	2.78	0.11298	T	-1.45	0.35597	N	0.183	0.19861	-1.0808	0.07194	T	0.036	0.15640	T	10	0.00769341	0.00175	T	.	.	.	0.089	0.25827	.	.	0.147330786459	0.14319	0.1381788489965584	0.13741	.	.	0.901937603951	0.96652	D	0.002587	0.01974	T	-0.613707	0.00120	T	-0.64821	0.09080	T	0.42113262262471	0.29732	T	0.436756	0.11992	T	0.25363368	0.48387	0.13301699	0.31905	0.25363368	0.48387	0.13301699	0.31905	-4.895	0.35678	T	.	.	0.184	0.39865	B	.	.	3.772579	0.54193	23.5	0.97372776053605992	0.33632	0.74032	0.36211	D	AEFDBHCI	0.429614	0.49266	N	-0.145669542489785	0.35419	2.034181	-0.215346102216848	0.30983	1.749412	0.999983850263538	0.51787	0.685219	0.55550	0	0.541556	0.11502	0	0.674405	0.61402	0	0.56751	0.32155	0	.	.	4.18	3.0	0.33773	1.486000	0.35138	4.696000	0.44387	-0.284000	0.06380	1.000000	0.71638	1.000000	0.68203	0.018000	0.11154	0.0:0.0958:0.0:0.9042	8.064	0.29812	374	0.84073	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	729.98	34	chr5	176597314	.	T	C	729.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.450e+00;DP=784;ExcessHet=0.0000;FS=3.254;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=0.018;SOR=0.697	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,111,1422	20	0	1	0
chr5	176598286	176598286	C	T	exonic	GPRIN1	.	nonsynonymous SNV	GPRIN1:NM_052899:exon2:c.G1549A:p.G517R,	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.033	B	0.027	B	0.517	N	1.000	N	2.42	M	2.62	T	-1.004	T	0.019	T	0.189	3.028	16.10	1.16	0.364	0.155	5.059	0.030	.	.	0.00379393	0.0016	0	0	0.0183	0	0	0.0011	0.0018	0.001423	220	154602	rs148346330	0.0006	0.0006	0.0005	0.0006	0.0151	0.0005	0.0005	0.0141	0.0137	2.987e-05	8.945e-05	0	0.0151	1.882e-05	0.0002	1.529e-05	0.0010	0.0016	0.0007	0.0007	0.0006	0.0008	0.0158	0.0006	0.0006	0.0130	0.0120	0	0	0.0003	0	0.0158	0	0	4.41e-05	0	0.0041	0.07	0.35349	T	0.175	0.29945	T	0.033	0.20350	B	0.027	0.21085	B	0.517138	0.11782	N	0.695300	1	0.08975	N	2.36	0.67893	M	2.62	0.12988	T	-2.79	0.59059	D	0.074	0.04790	-1.0038	0.28814	T	0.019	0.08033	T	10	0.0039630234	0.00076	T	.	.	.	0.030	0.07022	0.428	0.47515	0.0675242888579	0.06100	0.07076168941177935	0.07013	.	.	0.296689748764	0.09908	T	0.016149	0.13408	T	-0.588784	0.00170	T	-0.603587	0.12512	T	0.0476050048352061	0.05072	T	0.521348	0.16985	T	0.13909134	0.32142	0.13987122	0.33359	0.13909134	0.32142	0.13987122	0.33358	-5.471	0.41596	T	.	.	0.115	0.23041	B	.	.	1.467571	0.18910	13.99	0.9954215815494617	0.70586	0.06435	0.12441	N	AEFDBI	0.062895	0.12119	N	-0.820039763717754	0.12799	0.6262141	-0.919186968672008	0.11642	0.5943398	0.971163944168638	0.29265	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.12	1.16	0.19936	0.403000	0.20706	.	.	0.524000	0.24156	0.000000	0.06391	.	.	0.002000	0.04165	0.0:0.6261:0.172:0.2019	5.059	0.13885	374	0.84073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2320.98	79	chr5	176598286	.	C	T	2320.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.49;DP=1933;ExcessHet=0.0000;FS=1.854;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=0.246;SOR=0.534	GT:AD:DP:GQ:PL	0/0:100,0:100:99:0,120,1800	20	0	1	0
chr5	176599107	176599107	G	C	exonic	GPRIN1	.	nonsynonymous SNV	GPRIN1:NM_052899:exon2:c.C728G:p.P243R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.982	D	0.778	P	.	.	1.000	N	1.65	L	3.12	T	-1.073	T	0.037	T	0.06	1.736	11.76	3.07	1.721	-0.354	9.657	0.027	0.0198205850542	.	.	1.649e-05	0	0	0	0	3e-05	0	0	3.84e-05	1	26028	rs754227254	3.421e-06	3.42e-06	1.361e-06	5.501e-06	4.497e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.41637	D	0.035	0.52389	D	0.982	0.60036	D	0.778	0.57212	P	.	.	.	.	1	0.08975	N	1.87	0.49600	L	3.12	0.08106	T	-1.51	0.36787	N	0.1	0.08227	-1.0732	0.08724	T	0.037	0.16029	T	9	0.13800588	0.26248	T	0.019821	0.42278	T	0.027	0.05988	0.231	0.15855	0.0675242888579	0.06100	0.06842452452680453	0.06780	.	.	0.213826268911	0.00984	T	0.00832	0.07645	T	-0.353749	0.04496	T	-0.730426	0.04309	T	0.532104909420013	0.33812	D	0.420658	0.11177	T	0.07265261	0.16177	0.07925795	0.17828	0.07265261	0.16177	0.07925795	0.17827	-8.07	0.61546	D	.	.	0.099	0.16626	B	.	.	2.133053	0.27159	17.37	0.99697912984243642	0.80385	0.14961	0.18674	N	AEFDBI	0.055248	0.10114	N	-0.172298350746243	0.34292	1.955519	-0.340539351828455	0.26802	1.482894	0.994262755300793	0.33559	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.96	3.07	0.34476	-0.378000	0.07503	1.089000	0.23963	0.492000	0.22399	0.000000	0.06391	0.002000	0.18203	0.086000	0.17578	0.1107:0.0:0.8893:0.0	9.657	0.39096	374	0.84073	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1220.98	65	chr5	176599107	.	G	C	1220.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.635e+00;DP=1446;ExcessHet=0.0000;FS=4.326;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.89;ReadPosRankSum=-1.690e-01;SOR=0.338	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1089	20	0	1	0
chr5	176891505	176891505	G	C	exonic	HK3	.	nonsynonymous SNV	HK3:NM_002115:exon3:c.C142G:p.Q48E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.003	B	0.009	B	0.128	N	0.995	N	0.96	L	-4.73	D	-0.153	T	0.780	D	0.145	-0.453	1.903	4.87	2.240	2.143	10.279	0.407	0.127204419644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.783	0.03262	T	0.558	0.09175	T	0.003	0.11197	B	0.009	0.14300	B	0.128231	0.18739	N	0.451624	0.994693	0.23463	N	1.7	0.43825	L	-4.73	0.98066	D	-0.78	0.21644	N	0.232	0.26111	-0.1533	0.78834	T	0.780	0.92526	D	10	0.1749241	0.32397	T	0.127204	0.80898	D	0.407	0.71946	0.543	0.65589	0.967729093749	0.96738	0.17690706036254783	0.17609	0.161341295611	0.18212	0.318116754293	0.13135	T	0.164946	0.51059	T	0.0328749	0.56106	T	-0.190554	0.55537	T	0.0657039719561111	0.08035	T	0.723528	0.33695	T	0.10435954	0.24670	0.10602485	0.25498	0.10435954	0.24670	0.10602485	0.25498	-4.188	0.26577	T	.	.	0.095	0.14706	B	.	.	1.996201	0.25363	16.73	0.3912933633400697	0.02681	0.66688	0.33165	D	AEFDBI	0.497738	0.53213	N	-0.50833905759285	0.21809	1.160156	-0.347085978537447	0.26599	1.470283	0.999996876427571	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.87	4.87	0.62877	1.809000	0.38560	5.913000	0.51050	0.662000	0.56354	0.039000	0.20931	0.998000	0.33993	0.892000	0.42986	0.0918:0.0:0.9082:0.0	10.279	0.42706	568	0.70638	Hexokinase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2458.98	46	chr5	176891505	.	G	C	2458.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.430e-01;DP=900;ExcessHet=0.0000;FS=2.075;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.76;ReadPosRankSum=-1.175e+00;SOR=0.886	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr5	176968617	176968617	A	G	exonic	UIMC1	.	nonsynonymous SNV	UIMC1:NM_001199298:exon6:c.T1138C:p.S380P	.	.	424	1095	3	0	0	3	0.00136799	.	.	428383	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.422	N	1.000	N	-1.955	N	1.49	T	-0.975	T	0.012	T	0.072	-1.325	0.033	0.632	-0.135	1.850	2.763	0.061	0.00337396688117	0.0012	0.000599042	0.0012	0.0003	0.0005	0	0.0003	0.0018	0.0033	0.0007	0.0012419	192	154602	rs150697112	0.0017	0.0017	0.0017	0.0017	0.0019	0.0016	0.0016	0.0018	0.0018	0.0002	0.0006	0.0042	0	0.0003	0.0010	0.0019	0.0019	0.0008	0.0012	0.0012	0.0011	0.0013	0.0019	0.0011	0.0010	0.0016	0.0015	0.0003	0.0033	0.0008	0.0061	0	0.0005	0	0.0019	0.0009	0.0012	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.422158	0.12856	N	0.718744	1	0.19072	N	-1.67	0.00374	N	1.49	0.31470	T	2.65	0.00200	N	0.036	0.01068	-0.9754	0.36037	T	0.012	0.04795	T	10	0.0031056702	0.00052	T	0.003374	0.07542	T	0.061	0.17616	.	.	0.119812018005	0.11559	0.05286877776808603	0.05228	0.186328379194	0.20943	0.274577111006	0.06747	T	0.039844	0.25328	T	-0.623431	0.00105	T	-0.67415	0.07345	T	0.00124151186140563	0.00012	T	0.444056	0.12368	T	0.04546225	0.07445	0.048153248	0.07091	0.04233708	0.06400	0.045369305	0.06087	-3.833	0.21298	T	.	.	0.045	0.00051	B	.;.	.;.	1.099917	0.14844	11.37	0.17051932713067353	0.00482	0.03232	0.08247	N	AEFBI	0.026461	0.01991	N	-1.19592972038351	0.05062	0.2298659	-0.950575426630766	0.10909	0.5525408	0.0601727643695432	0.15188	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	0.632	0.16877	1.918000	0.39636	2.951000	0.35712	-0.156000	0.11795	0.994000	0.38300	1.000000	0.68203	0.844000	0.39860	0.2061:0.1235:0.5428:0.1276	2.763	0.04984	762	0.50290	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.02381	2105.98	34	chr5	176968617	.	A	G	2105.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.613e+00;DP=875;ExcessHet=0.0000;FS=0.577;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=-4.840e-01;SOR=0.627	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr5	177248247	177248247	G	A	exonic	NSD1	.	nonsynonymous SNV	NSD1:NM_022455:exon11:c.G4564A:p.D1522N	Beckwith-Wiedemann syndrome, Autosomal dominant;Leukemia, acute myeloid, Autosomal dominant;Sotos syndrome 1, Autosomal dominant	YES	0	1515	7	0	0	7	0.00230491	.	.	168189	Inborn_genetic_diseases|Sotos_syndrome|not_specified|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0019349,MedGen:C0175695,OMIM:117550,Orphanet:821|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.12	T	0.959	D	0.467	P	0.001	D	1.000	N	1.355	L	-3.13	D	0.380	D	0.719	D	0.08	3.200	16.72	5.22	2.425	5.283	14.499	0.292	0.110510588419	7.7e-05	0.000399361	0.0008	9.831e-05	0	0	0.0002	0.0001	0	0.0056	0.0006727	104	154602	rs201483724	0.0004	0.0004	0.0002	0.0006	0.0052	0.0004	0.0003	0.0048	0.0046	0	6.71e-05	0.0010	0	1.872e-05	0.0021	4.047e-05	0.0005	0.0052	0.0002	0.0002	0.0001	0.0004	0.0062	0.0002	0.0002	0.0045	0.0039	0	0	0.0002	0	0	0	0	4.41e-05	0.0009	0.0062	0.005	0.65419	D	0.16	0.32891	T	0.733	0.42736	P	0.297	0.40924	B	0.000638	0.42799	D	0.100459	0.790248	0.29234	N	0.975	0.24501	L	-3.13	0.92829	D	-0.75	0.21644	N	0.216	0.26596	0.380	0.88802	D	0.719	0.90357	D	10	0.0038702786	0.00073	T	0.110511	0.78792	D	0.292	0.61157	.	.	0.833201245306	0.83161	0.5360873676290298	0.53533	0.854676176152	0.68704	0.540032982826	0.44450	T	0.289476	0.66226	T	-0.339064	0.05454	T	-0.259415	0.48882	T	0.061409850690675	0.07389	T	0.89481	0.63428	D	0.07395513	0.16561	0.07599371	0.16786	0.093532324	0.21970	0.09044703	0.21209	-4.451	0.30494	T	0.6339361804830066	0.70369	0.108	0.21877	B	.;.;.	.;.;.	4.182297	0.62975	24.5	0.99862111859365854	0.94093	0.97561	0.75557	D	AEFDBI	0.403165	0.47696	N	0.154939479309402	0.49046	3.10946	0.16227301507575	0.47797	3.004488	0.989402529358865	0.31815	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.22	5.22	0.72285	5.716000	0.68088	11.935000	0.99966	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.880000	0.42090	0.0:0.0:0.8526:0.1474	14.499	0.67291	929	0.16858	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	2263.98	38	chr5	177248247	.	G	A	2263.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.16;DP=929;ExcessHet=0.0000;FS=6.748;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.63;ReadPosRankSum=-4.600e-02;SOR=1.132	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr5	177332169	177332169	C	T	exonic	LMAN2	.	nonsynonymous SNV	LMAN2:NM_006816:exon8:c.G988A:p.A330T,	.	.	426	1086	10	0	0	10	0.00458295	.	.	721395	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.4	T	0.313	B	0.019	B	0.000	D	1.000	D	1.67	L	-0.07	T	-0.918	T	0.127	T	0.467	3.036	16.13	4.33	2.456	3.089	13.182	0.100	0.017381909764	0.0066	0.00319489	0.0055	0.0004	0.0016	0	0.0030	0.0081	0.0048	0.0051	0.0056274	870	154602	rs150674852	0.0071	0.0071	0.0071	0.0071	0.0080	0.0070	0.0069	0.0078	0.0078	0.0012	0.0020	0.0123	2.519e-05	0.0032	0.0057	0.0080	0.0067	0.0054	0.0054	0.0054	0.0060	0.0046	0.0082	0.0051	0.0049	0.0076	0.0074	0.0014	0.0614	0.0029	0.0115	0	0.0021	0.0068	0.0082	0.0061	0.0050	0.395	0.10659	T	0.73	0.05165	T	0.313	0.32852	B	0.019	0.18783	B	0.000002	0.62929	D	0.056604	0.999778	0.81001	D	1.185	0.30054	L	-0.07	0.63738	T	-0.87	0.23590	N	0.482	0.51672	-0.9177	0.45864	T	0.127	0.43360	T	10	0.0093584955	0.00211	T	0.017382	0.39055	T	0.100	0.28662	.	.	0.623404466153	0.62034	0.5442323423595946	0.54349	0.439953692951	0.44012	0.790500640869	0.80519	T	0.082949	0.36945	T	-0.362589	0.03985	T	-0.284216	0.46370	T	0.0076413674045253	0.00089	T	0.913209	0.69058	D	0.07518554	0.16922	0.112450674	0.27132	0.07518554	0.16921	0.112450674	0.27131	-4.055	0.24624	T	.	.	0.179	0.39081	B	.	.	4.257340	0.64674	24.7	0.99665045043375566	0.78202	0.94008	0.59836	D	AEFDBI	0.446123	0.50232	N	0.00288589649692123	0.41987	2.521	0.124096177169886	0.45785	2.835501	0.99998539257677	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.26	4.33	0.51083	3.146000	0.50327	5.812000	0.50015	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.886000	0.42526	0.2638:0.7362:0.0:0.0	13.182	0.59082	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	929.98	34	chr5	177332169	.	C	T	929.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.855;DP=813;ExcessHet=0.0000;FS=1.800;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.20;ReadPosRankSum=-2.386e+00;SOR=0.881	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1154	20	0	1	0
chr5	177371917	177371917	G	A	exonic	RGS14	.	nonsynonymous SNV	RGS14:NM_001366617:exon15:c.G1546A:p.D516N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.305	M	-1.23	T	0.267	D	0.597	D	0.329	4.781	26.9	3.95	1.237	8.881	12.738	0.787	0.120656222404	.	0.000399361	0.0001	0	0	0	0	9.068e-05	0	0.0006	0.0001229	19	154602	rs201610540	6.089e-05	6.088e-05	5.582e-05	6.601e-05	0.0007	5.028e-05	4.672e-05	0.0002	0.0002	0	0	0	0	0	0.0007	5.306e-05	0	0.0003	5.91e-05	5.905e-05	2.57e-05	9.399e-05	0.0008	3.075e-05	2.209e-05	0.0003	0.0002	0	0	6.534e-05	0	0	0	0	5.882e-05	0	0.0008	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000002	0.62929	D	0.056042	0.999579	0.47641	D	2.795	0.81503	M	-1.23	0.78860	T	-4.45	0.77717	D	0.862	0.85872	0.267	0.87023	D	0.597	0.85635	D	10	0.8460337	0.83769	D	0.120656	0.80125	D	0.787	0.92948	.	.	0.917147198217	0.91631	0.5458329772373338	0.54509	1.155443928	0.79353	0.809211015701	0.83371	D	0.714046	0.91866	D	-0.129497	0.31579	T	-0.0958302	0.63719	T	0.843783497810364	0.49639	D	0.973303	0.90409	D	0.85362536	0.87604	0.68453556	0.81453	0.85362536	0.87606	0.68453556	0.81454	-9.913	0.73389	D	.	.	0.890	0.82117	P	.	.	5.137568	0.85998	28.8	0.99916615736042225	0.98449	0.98909	0.88484	D	AEFBI	0.922228	0.89690	D	0.740656710563886	0.82294	7.727522	0.677562493562832	0.80678	7.352627	0.999999984963621	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.688494	0.62686	0	0.669	0.65921	0	.	.	4.84	3.95	0.44952	9.006000	0.93125	11.797000	0.96542	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.8354:0.1646	12.738	0.56607	934	0.15400	GoLoco motif|GoLoco motif|GoLoco motif	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1658.98	33	chr5	177371917	.	G	A	1658.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=796;ExcessHet=0.0000;FS=1.599;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.36;ReadPosRankSum=0.106;SOR=0.590	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1031	20	0	1	0
chr5	177386492	177386492	-	GATCCTGGTGACCGTGCTGGT	exonic	SLC34A1	.	nonframeshift insertion	SLC34A1:NM_001167579:exon5:c.458_459insGATCCTGGTGACCGTGCTGGT:p.V160_Q161insILVTVLV	Fanconi renotubular syndrome 2, Autosomal recessive;Hypercalcemia, infantile, 2, Autosomal recessive;Nephrolithiasis/osteoporosis, hypophosphatemic, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	27972	not_provided|Fanconi_renotubular_syndrome_2	MedGen:CN517202|MONDO:MONDO:0013247,MedGen:C3150652,OMIM:613388	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.473e-05	0	0	0	0	4.501e-05	0	0	3.84e-05	1	26028	rs876657375	1.642e-05	1.642e-05	1.77e-05	1.513e-05	0.0007	1.111e-05	9.33e-06	0.0002	0.0001	0	0	0	0	0	0.0007	1.709e-05	1.656e-05	0	1.971e-05	1.97e-05	2.569e-05	1.345e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1216.94	39	chr5	177386492	.	G	GGATCCTGGTGACCGTGCTGGT	1216.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.254e+00;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.54;ReadPosRankSum=-1.208e+00;SOR=0.714	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1644	20	0	1	0
chr5	177394099	177394099	G	A	exonic	SLC34A1	.	nonsynonymous SNV	SLC34A1:NM_003052:exon10:c.G1078A:p.V360M,	Fanconi renotubular syndrome 2, Autosomal recessive;Hypercalcemia, infantile, 2, Autosomal recessive;Nephrolithiasis/osteoporosis, hypophosphatemic, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.002	B	0.007	B	0.231	N	0.569	N	1.04	L	1.35	T	-1.050	T	0.061	T	0.136	1.482	10.90	3.11	1.205	0.124	6.346	0.034	0.00748161481612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.091	0.40110	T	0.002	0.09854	B	0.007	0.12992	B	0.230908	0.15923	N	0.611147	0.999987	0.18198	N	1.215	0.30540	L	1.35	0.34648	T	0.31	0.04022	N	0.192	0.21056	-1.0502	0.14341	T	0.061	0.25346	T	10	0.10366598	0.19069	T	0.007482	0.19846	T	0.034	0.08419	0.593	0.72247	0.264547087235	0.26054	0.5423669042601604	0.54161	0.0699051351792	0.07831	0.377948582172	0.21965	T	0.223737	0.58798	T	-0.259757	0.12927	T	-0.610899	0.11911	T	0.0918727532611725	0.11438	T	0.873413	0.58193	D	0.04169156	0.06185	0.06148862	0.11881	0.04169156	0.06185	0.06148862	0.11881	-7.193	0.55431	T	0.1989899871797078	0.26367	0.087	0.11220	B	.	.	2.102936	0.26757	17.23	0.97717825185042562	0.35537	0.12452	0.17277	N	AEFBI	0.115623	0.22726	N	-0.465042802727698	0.23233	1.246177	-0.350614576260845	0.26489	1.463502	0.905945350941191	0.26218	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.25	3.11	0.34883	0.151000	0.16101	2.396000	0.32567	0.596000	0.33519	0.182000	0.24089	1.000000	0.68203	0.997000	0.79791	0.226:0.0:0.6326:0.1414	6.346	0.20554	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1301.98	34	chr5	177394099	.	G	A	1301.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.910;DP=860;ExcessHet=0.0000;FS=6.321;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.86;ReadPosRankSum=4.000e-03;SOR=1.186	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1444	20	0	1	0
chr5	177398108	177398108	G	A	exonic	SLC34A1	.	nonsynonymous SNV	SLC34A1:NM_003052:exon13:c.G1742A:p.R581H,	Fanconi renotubular syndrome 2, Autosomal recessive;Hypercalcemia, infantile, 2, Autosomal recessive;Nephrolithiasis/osteoporosis, hypophosphatemic, 1, Autosomal dominant	.	0	1518	4	0	0	4	0.00131579	.	.	2384193	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.54	T	0.002	B	0.001	B	0.612	N	1.000	N	1.15	L	1.52	T	-1.026	T	0.035	T	0.07	-0.389	2.175	-9.73	-2.150	-2.879	0.897	0.013	0.0039359776929	7.7e-05	0.000199681	8.286e-05	0.0002	0	0	0	0.0001	0	6.136e-05	8.41e-05	13	154602	rs372860328	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	9.984e-05	0.0001	0.0001	8.973e-05	0	0	0	0	0.0002	0.0001	0.0001	4.641e-05	7.225e-05	7.217e-05	8.997e-05	5.372e-05	0.0001	3.969e-05	3.126e-05	6.27e-05	4.291e-05	0.0001	0	0	0	0	0	0	7.352e-05	0	0	0.555	0.06482	T	0.483	0.11795	T	0.002	0.09854	B	0.001	0.04355	B	0.611841	0.05705	N	1.184600	1	0.08975	N	0.55	0.14455	N	1.52	0.30669	T	-1.39	0.34397	N	0.028	0.00618	-1.0258	0.21821	T	0.035	0.15030	T	10	0.04059413	0.02641	T	0.003936	0.09274	T	0.013	0.01715	.	.	0.158396225186	0.15383	0.15451553734865667	0.15372	0.0819803898389	0.09232	0.226977273822	0.01752	T	0.338306	0.70759	T	-0.582535	0.00186	T	-0.795112	0.02027	T	0.0252109150154793	0.01300	T	0.059894	0.00434	T	0.026137667	0.01633	0.03389053	0.02361	0.026137667	0.01633	0.03389053	0.02361	-4.844	0.35100	T	0.11536642930350614	0.10313	0.064	0.01577	B	.	.	-1.037010	0.00720	0.021	0.77146482750078715	0.11755	0.02841	0.07592	N	AEFBI	0.077511	0.15619	N	-1.70454795529999	0.00826	0.03570588	-1.83090541490132	0.00665	0.02959155	0.999999858334959	0.74766	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	5.34	-9.73	0.00427	-3.383000	0.00544	-8.467000	0.00965	-0.759000	0.03520	0.000000	0.06391	0.000000	0.08366	0.104000	0.18471	0.3999:0.1955:0.2003:0.2043	0.897	0.01186	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	704.98	34	chr5	177398108	.	G	A	704.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.660e-01;DP=798;ExcessHet=0.0000;FS=0.802;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.92;ReadPosRankSum=2.08;SOR=0.800	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1305	20	0	1	0
chr5	177398229	177398229	T	-	exonic	SLC34A1	.	frameshift deletion	SLC34A1:NM_003052:exon13:c.1863delT:p.A622Pfs*60,	Fanconi renotubular syndrome 2, Autosomal recessive;Hypercalcemia, infantile, 2, Autosomal recessive;Nephrolithiasis/osteoporosis, hypophosphatemic, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	1.368e-06	2.747e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	1.314e-05	1.313e-05	0	2.69e-05	0.0001	2.18e-06	8.2e-07	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	881.94	34	chr5	177398228	.	CT	C	881.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.080e-01;DP=772;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=-1.013e+00;SOR=0.788	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1305	20	0	1	0
chr5	177402368	177402368	C	T	exonic	F12	.	nonsynonymous SNV	F12:NM_000505:exon14:c.G1772A:p.G591D,	Angioedema, hereditary, type III, Autosomal dominant;Factor XII deficiency, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.993	D	0.000	D	0.997	D	2.495	M	0.06	T	-0.089	T	0.434	T	0.856	4.005	20.5	5.3	2.479	1.154	12.723	0.463	0.103212151858	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1383338467	2.053e-06	2.052e-06	1.362e-06	2.751e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.993	0.81110	D	0.000293	0.46274	D	0.000000	0.997193	0.43699	D	2.09	0.57893	M	0.06	0.61798	T	-5.26	0.84105	D	0.372	0.41360	-0.0894	0.80341	T	0.434	0.77484	T	10	0.9134089	0.90704	D	0.103212	0.77711	D	0.463	0.75956	0.884	0.97032	0.77589158586	0.77382	0.9190023557557815	0.91876	0.517614673537	0.49624	0.459723651409	0.33271	T	0.684401	0.90765	D	0.236926	0.77371	D	0.102552	0.77078	D	0.995949983596802	0.88365	D	0.839116	0.51273	T	0.96925855	0.98191	0.9442622	0.98043	0.96925855	0.98191	0.9442622	0.98044	-14.438	0.94393	D	0.4037794809881309	0.49518	0.876	0.81224	P	.	.	4.601568	0.72891	25.9	0.99844265290201772	0.92403	0.60916	0.31333	D	AEFDBHCI	0.591744	0.58772	D	0.564929235652664	0.70996	5.58424	0.494483873340093	0.67623	5.108962	0.99999925270443	0.74766	0.72623	0.87236	0	0.627608	0.54475	0	0.594344	0.31042	0	0.600526	0.37237	0	.	.	5.3	5.3	0.74745	1.043000	0.29926	5.923000	0.51195	0.599000	0.40250	0.018000	0.19461	1.000000	0.68203	0.996000	0.76049	0.0:0.7189:0.2811:0.0	12.723	0.56523	929	0.16858	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1591.98	35	chr5	177402368	.	C	T	1591.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=796;ExcessHet=0.0000;FS=0.779;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.24;ReadPosRankSum=-3.600e-02;SOR=0.820	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1190	20	0	1	0
chr5	177435064	177435064	G	A	exonic	GRK6	.	nonsynonymous SNV	GRK6:NM_001364164:exon10:c.G370A:p.V124M	.	.	425	1082	14	1	0	16	0.00733945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.999	D	0.938	D	0.000	D	1.000	D	1.495	L	1.81	T	-1.009	T	0.091	T	0.594	3.183	16.65	4.69	1.351	6.718	15.829	0.137	.	0.0013	0.00319489	0.0025	0.0004	0.0004	0	0	0.0013	0.0022	0.0124	0.0022833	353	154602	rs143935970	0.0019	0.0019	0.0015	0.0022	0.0113	0.0018	0.0018	0.0107	0.0104	0.0002	0.0009	0.0010	2.519e-05	1.873e-05	0.0039	0.0014	0.0017	0.0113	0.0012	0.0012	0.0010	0.0014	0.0118	0.0011	0.0010	0.0093	0.0085	0.0004	0	0.0010	0.0009	0	0	0.0034	0.0013	0.0028	0.0118	0.028	0.48642	D	0.062	0.49942	T	0.998	0.77913	D	0.928	0.67350	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.995	0.25082	L	1.81	0.25182	T	-1.83	0.42957	N	0.603	0.62866	-1.0094	0.27105	T	0.091	0.34874	T	10	0.010959148	0.00242	T	.	.	.	0.137	0.36984	.	.	0.55375338871	0.55033	0.665471097586976	0.66484	1.6732094712	0.89882	0.849718809128	0.89573	D	0.304871	0.67715	T	-0.361079	0.04069	T	-0.282046	0.46595	T	0.0193995816189315	0.00645	T	0.889711	0.62583	D	0.297359	0.52666	0.16623408	0.38413	0.297359	0.52666	0.16623408	0.38413	-6.579	0.51191	T	.	.	0.347	0.58697	A	.;.;.;.;.	.;.;.;.;.	5.119054	0.85616	28.7	0.9976194147316324	0.85172	0.97522	0.75297	D	AEFBHCI	0.793397	0.72141	D	0.398974369911757	0.61368	4.336809	0.402196825549314	0.61703	4.37404	0.999999999977355	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.56	4.69	0.58546	8.072000	0.89294	11.870000	0.98549	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.721000	0.34804	0.0:0.0:0.863:0.137	15.829	0.78518	923	0.18507	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	501.98	34	chr5	177435064	.	G	A	501.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.160e-01;DP=748;ExcessHet=0.0000;FS=1.114;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=0.282;SOR=0.996	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr5	177459118	177459118	G	A	exonic	DBN1	.	nonsynonymous SNV	DBN1:NM_001364152:exon4:c.C302T:p.P101L	.	.	434	1068	18	2	0	22	0.0101946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.985	D	0.556	P	0.965	N	1.000	D	0.55	N	1.33	T	-0.207	T	0.539	D	0.369	2.320	13.71	2.57	0.995	1.733	8.576	0.201	0.358665690535	0.0022	0.000599042	0.0035	0	0.0010	0	0.0090	0.0034	0.0057	0.0076	0.0030789	476	154602	rs34692220	0.0024	0.0024	0.0022	0.0026	0.0073	0.0023	0.0023	0.0069	0.0067	0.0002	0.0010	0.0137	2.544e-05	0.0083	0.0051	0.0016	0.0027	0.0073	0.0023	0.0023	0.0017	0.0029	0.0056	0.0021	0.0020	0.0040	0.0034	7.216e-05	0	0.0007	0.0124	0.0002	0.0116	0.0068	0.0020	0.0024	0.0056	0.108	0.57480	T	0.005	0.72224	D	0.804	0.45171	P	0.114	0.31755	B	0.965285	0.08196	N	0.983940	0.999939	0.52935	D	0.55	0.14455	N	-2.36	0.88143	D	-0.63	0.50502	N	0.349	0.42541	-0.2073	0.77484	T	0.539	0.82975	D	10	0.0077996254	0.00177	T	0.358666	0.92456	D	0.201	0.48592	.	.	0.779832608799	0.77780	0.28288821172734135	0.28201	0.14856997869	0.16756	0.577061295509	0.49671	T	0.119007	0.44023	T	-0.274101	0.11303	T	-0.162359	0.58139	T	0.0287665587495156	0.01801	T	0.824517	0.68205	T	0.030877778	0.02829	0.037521973	0.03422	0.030877778	0.02829	0.037521973	0.03422	-4.647	0.35791	T	.	.	0.058	0.09045	B	.;.;.;.	.;.;.;.	2.868064	0.37918	20.6	0.98510518477732345	0.42337	0.23300	0.22031	N	AEFDBHCI	0.067166	0.13189	N	-0.315826165910879	0.28546	1.575441	-0.35463121931207	0.26366	1.455877	0.999982361257741	0.51787	0.67177	0.52595	0	0.643519	0.57511	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	3.49	2.57	0.29928	1.152000	0.31275	5.679000	0.49287	0.676000	0.76740	0.257000	0.24919	1.000000	0.68203	0.129000	0.19529	0.0:0.2373:0.7627:0.0	8.576	0.32759	917	0.20147	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1570.98	35	chr5	177459118	.	G	A	1570.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.911;DP=804;ExcessHet=0.0000;FS=2.684;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.54;ReadPosRankSum=1.02;SOR=0.885	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1391	20	0	1	0
chr5	177503130	177503130	G	A	exonic	DOK3	.	nonsynonymous SNV	DOK3:NM_001144876:exon5:c.C602T:p.T201M	.	.	425	1091	5	1	0	7	0.00319781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.474	P	0.141	B	.	.	1.000	N	0	N	0.68	T	-1.053	T	0.050	T	0.023	0.681	7.643	-1.88	-0.561	0.456	2.253	0.048	0.00765155407362	0.0009	0.00159744	0.0028	0	0	0	0	0.0009	0	0.0060	0.0005627	87	154602	rs202146130	0.0012	0.0011	0.0010	0.0014	0.0069	0.0011	0.0011	0.0064	0.0062	0.0001	0.0004	0.0002	5.597e-05	0.0002	0.0028	0.0009	0.0011	0.0069	0.0008	0.0008	0.0005	0.0010	0.0078	0.0006	0.0006	0.0058	0.0051	0.0002	0	0.0005	0.0003	0	0	0	0.0008	0.0019	0.0078	0.0	0.91255	D	0.048	0.48594	D	0.109	0.26142	B	0.053	0.25678	B	.	.	.	.	1	0.08975	N	.	.	.	0.68	0.53088	T	-0.56	0.19720	N	0.143	0.14338	-1.0527	0.13655	T	0.050	0.21378	T	9	0.008745134	0.00198	T	0.007652	0.20299	T	0.048	0.13305	.	.	0.0920862733494	0.08535	.	.	.	.	.	.	.	.	.	.	-0.605754	0.00134	T	-0.639174	0.09729	T	0.030139504509938	0.02012	T	0.493251	0.15238	T	.	.	.	.	.	.	.	.	-5.382	0.40746	T	.	.	0.100	0.21877	B	.;.	.;.	0.566602	0.09351	6.132	0.92403142669486305	0.21816	0.03277	0.08320	N	AEFDBHCI	0.025301	0.01711	N	-1.13377760204758	0.06050	0.2775243	-1.25312274768622	0.05085	0.2414514	0.999999325230275	0.74766	0.646311	0.45356	0	0.685571	0.66316	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	2.11	-1.88	0.07294	0.964000	0.28903	1.685000	0.28035	0.526000	0.24426	0.005000	0.17040	0.031000	0.21272	0.001000	0.02609	0.4406:0.0:0.3187:0.2407	2.253	0.03800	900	0.24599	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1067.98	33	chr5	177503130	.	G	A	1067.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=808;ExcessHet=0.0000;FS=0.934;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=0.972;SOR=0.835	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1094	20	0	1	0
chr5	177503142	177503142	C	G	exonic	DOK3	.	nonsynonymous SNV	DOK3:NM_001144876:exon5:c.G590C:p.S197T	.	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.312	B	0.054	B	.	.	1.000	N	0	N	0.7	T	-1.050	T	0.052	T	0.031	1.234	10.01	0.621	0.218	-0.121	3.861	0.042	0.00656367016175	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1429759419	1.429e-06	1.368e-06	0	2.898e-06	0.0004	2.4e-07	9e-08	6.163e-05	2.548e-05	0	0	0	0	0	0.0004	0	0	0	6.756e-06	6.578e-06	0	1.389e-05	1.496e-05	0	0	.	.	0	0	0	0	0	0	0	1.496e-05	0	0	0.0	0.91255	D	0.09	0.40267	T	0.137	0.27402	B	0.023	0.19966	B	.	.	.	.	1	0.08975	N	.	.	.	0.7	0.52642	T	-0.6	0.22508	N	0.102	0.08506	-1.0504	0.14285	T	0.052	0.22269	T	9	0.056775093	0.06417	T	0.006564	0.17301	T	0.042	0.11227	0.078	0.00601	0.166414681773	0.16258	.	.	.	.	.	.	.	.	.	.	-0.294136	0.09225	T	-0.660282	0.08247	T	0.0984869624614762	0.12189	T	0.294271	0.05429	T	.	.	.	.	.	.	.	.	-3.868	0.21824	T	.	.	0.089	0.15430	B	.;.	.;.	-0.057389	0.03902	0.858	0.95540207027966828	0.27187	0.06904	0.12930	N	AEFDBHCI	0.038137	0.05353	N	-1.07303256522155	0.07144	0.3309701	-1.15179540852759	0.06735	0.3252288	0.999998833144888	0.74766	0.646311	0.45356	0	0.685571	0.66316	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	1.53	0.621	0.16817	-0.067000	0.11538	-0.331000	0.09890	0.469000	0.21855	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.759:0.0:0.241	3.861	0.08505	900	0.24599	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	998.98	67	chr5	177503142	.	C	G	998.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.736e+00;DP=1301;ExcessHet=0.0000;FS=0.983;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=-6.310e-01;SOR=0.523	GT:AD:DP:GQ:PL	0/0:78,0:78:99:0,120,1800	20	0	1	0
chr5	178119848	178119848	C	T	exonic	N4BP3	.	nonsynonymous SNV	N4BP3:NM_015111:exon2:c.C265T:p.R89W,	.	.	423	1071	28	0	0	28	0.0129032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.99	D	0.306	B	0.609	N	0.983	D	1.355	L	6.7	T	-0.170	T	0.002	T	0.419	3.458	17.72	5.5	2.587	2.686	11.920	0.161	.	0.0012	0.00658946	0.0048	0.0004	0.0015	0.0004	0	0.0019	0.0045	0.0254	0.0042173	652	154602	rs146962131	0.0026	0.0026	0.0020	0.0032	0.0227	0.0025	0.0025	0.0219	0.0215	0.0005	0.0013	0.0069	0.0002	0.0002	0.0078	0.0012	0.0035	0.0227	0.0020	0.0020	0.0017	0.0023	0.0228	0.0018	0.0018	0.0194	0.0181	0.0003	0.0362	0.0027	0.0063	0	0	0	0.0012	0.0014	0.0228	0.002	0.72154	D	0.004	0.74150	D	0.99	0.63424	D	0.306	0.41250	B	0.609281	0.10883	N	0.824734	0.98294	0.39953	D	1.355	0.33814	L	6.7	0.00500	T	-3.2	0.64710	D	0.549	0.57518	-0.1695	0.78440	T	0.002	0.00676	T	10	0.006507933	0.00147	T	.	.	.	0.161	0.41658	.	.	0.495573750707	0.49194	0.2948520595669952	0.29398	0.386809144495	0.39969	0.421651661396	0.28065	T	0.190676	0.54529	T	-0.451319	0.01109	T	-0.402812	0.33058	T	0.0434527799513868	0.04320	T	0.878312	0.59309	D	0.122188926	0.28717	0.1339366	0.32105	0.122188926	0.28717	0.1339366	0.32104	-6.308	0.48785	T	.	.	0.183	0.39748	B	.	.	4.428912	0.68660	25.3	0.99880150957412417	0.95653	0.81072	0.40555	D	AEFDBCI	0.501753	0.53446	D	0.375290659665955	0.60084	4.193801	0.434771537558559	0.63744	4.614519	0.999988595682931	0.51787	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.662433	0.64102	0	.	.	5.5	5.5	0.81386	2.778000	0.47412	4.017000	0.41215	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.1739:0.8261:0.0:0.0	11.920	0.52068	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1145.98	38	chr5	178119848	.	C	T	1145.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.271;DP=794;ExcessHet=0.0000;FS=1.597;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.35;ReadPosRankSum=-7.480e-01;SOR=0.820	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1225	20	0	1	0
chr5	178150922	178150922	C	T	exonic	NHP2	.	nonsynonymous SNV	NHP2:NM_017838:exon3:c.G302A:p.R101Q,	Dyskeratosis congenita, autosomal recessive 2, Autosomal recessive	.	0	1513	8	1	0	10	0.00329381	.	.	239794	Dyskeratosis_congenita|not_specified|not_provided|NHP2-related_disorder	MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.004	B	0.005	B	0.000	N	1.000	D	1.32	L	0.44	T	-1.026	T	0.082	T	0.172	2.066	12.87	2.05	0.562	2.601	6.759	0.053	.	0.0075	0.00199681	0.0046	0.0016	0.0034	0	0.0012	0.0073	0.0022	0.0005	0.0048382	748	154602	rs145890370	0.0078	0.0078	0.0079	0.0076	0.0095	0.0077	0.0076	0.0093	0.0093	0.0012	0.0044	0.0020	0	0.0011	0.0045	0.0095	0.0062	0.0007	0.0059	0.0059	0.0063	0.0055	0.0093	0.0056	0.0055	0.0087	0.0084	0.0016	0.0749	0.0067	0.0023	0	0.0004	0.0068	0.0093	0.0085	0.0002	0.138	0.36912	T	0.501	0.12421	T	0.004	0.12183	B	0.005	0.11217	B	0.000021	0.55875	N	0.110503	0.997106	0.81001	D	1.015	0.25427	L	0.44	0.56609	T	-1.05	0.27463	N	0.402	0.44283	-1.0256	0.21886	T	0.082	0.32207	T	10	0.0047282577	0.00100	T	.	.	.	0.053	0.14996	.	.	0.640176730838	0.63721	0.44252186420256223	0.44169	0.462690307121	0.45794	0.326105594635	0.14345	T	0.143268	0.47930	T	-0.472761	0.00817	T	-0.440834	0.28714	T	0.0106979267580685	0.00150	T	0.90181	0.77081	D	0.09478878	0.22293	0.06715297	0.13852	0.09319374	0.21883	0.068979725	0.14474	-6.023	0.46472	T	.	.	0.171	0.38782	B	.;.;.;.	.;.;.;.	3.517982	0.49300	22.8	0.99461422110096132	0.65840	0.87534	0.47104	D	AEFBCI	0.184135	0.31146	N	-0.360114045350746	0.26903	1.471862	-0.272192394900283	0.29019	1.622471	0.999995215711778	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.22	2.05	0.25860	2.729000	0.46998	3.359000	0.37844	0.599000	0.40250	0.998000	0.41325	0.999000	0.35428	0.698000	0.34080	0.1545:0.6588:0.0:0.1867	6.759	0.22719	929	0.16858	Ribosomal protein L7Ae/L30e/S12e/Gadd45;Ribosomal protein L7Ae/L30e/S12e/Gadd45;Ribosomal protein L7Ae/L30e/S12e/Gadd45;Ribosomal protein L7Ae/L30e/S12e/Gadd45	RMND5B|RP11-423H2.1|RMND5B|NHP2|RMND5B	Artery_Aorta|Brain_Cerebellar_Hemisphere|Cells_Cultured_fibroblasts|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic	NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Amygdala|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Nerve_Tibial|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Whole_Blood	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1067.98	34	chr5	178150922	.	C	T	1067.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=800;ExcessHet=0.0000;FS=1.624;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=1.39;SOR=0.844	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1152	20	0	1	0
chr5	178224477	178224477	C	T	exonic	PHYKPL	.	nonsynonymous SNV	PHYKPL:NM_001278346:exon6:c.G466A:p.V156I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.002	N	1.000	D	-1.125	N	2.36	T	-0.973	T	0.021	T	0.089	0.224	5.209	1.17	0.187	1.235	7.343	0.049	0.00497580290958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.002293	0.36846	N	0.291936	0.940718	0.26800	N	-1.37	0.00637	N	2.36	0.36512	T	0.44	0.03889	N	0.161	0.16864	-0.9729	0.36583	T	0.021	0.09009	T	10	0.045309454	0.03586	T	0.004976	0.12535	T	0.049	0.13647	0.415	0.45380	0.252681307341	0.24864	0.3484384183988953	0.34757	0.0680759038335	0.07622	0.322125077248	0.13743	T	0.113751	0.43103	T	-0.30336	0.08346	T	-0.673532	0.07384	T	0.0703532621264458	0.08700	T	0.616838	0.23687	T	0.03930851	0.05401	0.030480627	0.01508	0.03930851	0.05401	0.030480627	0.01508	-0.888	0.00884	T	0.054055251744891605	0.01128	0.088	0.12702	B	.;.	.;.	0.931140	0.13067	9.567	0.46096226365659265	0.03667	0.63192	0.32013	D	AEFDBCI	0.115496	0.22706	N	-0.928445910042037	0.10181	0.4852938	-0.730748121376766	0.16197	0.8556597	0.999813602905349	0.43459	0.645754	0.44609	0	0.702456	0.74545	0	0.696144	0.63334	0	0.636168	0.56350	0	.	.	6.06	1.17	0.19998	1.240000	0.32334	0.114000	0.14823	0.587000	0.30956	0.973000	0.34540	0.670000	0.26062	0.963000	0.52385	0.0:0.4797:0.0:0.5203	7.343	0.25819	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	860.98	34	chr5	178224477	.	C	T	860.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=759;ExcessHet=0.0000;FS=6.944;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.96;ReadPosRankSum=0.125;SOR=1.644	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1243	20	0	1	0
chr5	178252594	178252594	G	T	exonic	COL23A1	.	nonsynonymous SNV	COL23A1:NM_173465:exon17:c.C964A:p.P322T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.137	B	0.246	B	0.000	D	1.000	D	2.12	M	-5.06	D	0.888	D	0.919	D	0.379	1.901	12.31	3.73	2.092	3.506	11.228	0.551	0.207950333987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.27310	T	0.034	0.52727	D	0.137	0.27402	B	0.246	0.38861	B	0.000162	0.48594	D	0.000000	0.626809	0.32754	D	2.11	0.58565	M	-5.06	0.98629	D	-2.38	0.52451	N	0.361	0.40264	0.888	0.95511	D	0.919	0.97335	D	10	0.43311095	0.57620	T	0.20795	0.87121	D	0.551	0.81427	0.358	0.36060	0.906959738677	0.90602	0.369441228984403	0.36858	0.213200525594	0.23830	0.612247228622	0.54634	T	0.283801	0.65657	T	0.166524	0.70803	D	0.00142358	0.70429	D	0.828960180282593	0.48449	D	0.832517	0.50934	T	0.12555005	0.29429	0.11608895	0.28026	0.12555005	0.29429	0.11608895	0.28025	-10.712	0.78055	D	.	.	0.100	0.19357	B	.;.	.;.	3.430578	0.47680	22.5	0.99200863699130593	0.55261	0.87195	0.46661	D	AEFDBI	0.381184	0.46354	N	-0.049106360900656	0.39642	2.341088	0.018624377113274	0.40579	2.424062	0.998267869525151	0.36664	0.646311	0.45356	0	0.491513	0.07743	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	3.73	3.73	0.41982	2.445000	0.44558	9.691000	0.81273	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.909000	0.44452	0.0:0.0:1.0:0.0	11.228	0.48122	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	793.98	34	chr5	178252594	.	G	T	793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.023;DP=830;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=1.18;SOR=0.810	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1168	20	0	1	0
chr5	178262240	178262240	C	G	exonic	COL23A1	.	nonsynonymous SNV	COL23A1:NM_173465:exon10:c.G652C:p.E218Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.997	D	0.968	D	0.060	N	0.580	N	0.92	L	-3.34	D	0.307	D	0.778	D	0.341	2.699	14.99	5.12	2.379	1.588	14.061	0.337	0.131448937508	0.0002	.	2.726e-05	0.0002	0	0	0	0	0	0	6.5e-06	1	154602	rs373132226	6.988e-06	7.524e-06	9.689e-06	4.234e-06	3.006e-05	3.53e-06	2.58e-06	3.14e-06	2.27e-06	3.006e-05	0	0	0	0	0	7.298e-06	0	1.227e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.13654	T	0.175	0.29945	T	0.997	0.70673	D	0.968	0.71741	D	0.059770	0.22298	N	0.415167	0.58	0.32367	D	1.355	0.33814	L	-3.37	0.94114	D	-1.03	0.27052	N	0.318	0.35832	0.307	0.87674	D	0.778	0.92471	D	10	0.2929101	0.46867	T	0.131449	0.81370	D	0.337	0.65913	.	.	0.921705345931	0.92091	0.1762137438614581	0.17540	0.400484656327	0.41048	0.350942790508	0.18060	T	0.170473	0.51823	T	-0.0526841	0.44040	T	-0.119145	0.61872	T	0.16323946416378	0.18108	T	0.940506	0.77585	D	0.1765181	0.38568	0.065812126	0.13393	0.1765181	0.38568	0.065812126	0.13393	-7.249	0.55832	T	.	.	0.079	0.20702	B	.;.	.;.	3.202729	0.43564	21.8	0.9969210273541711	0.79977	0.87015	0.46431	D	AEFDBI	0.325390	0.42699	N	0.193363652484796	0.50879	3.273928	0.19587428295299	0.49619	3.163057	0.949407616573617	0.27845	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.613276	0.41899	0	.	.	5.12	5.12	0.69459	1.004000	0.29423	3.152000	0.36530	0.537000	0.25018	0.979000	0.35152	1.000000	0.68203	0.928000	0.46473	0.0:1.0:0.0:0.0	14.061	0.64320	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	584.98	35	chr5	178262240	.	C	G	584.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.210e-01;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.12;ReadPosRankSum=-1.408e+00;SOR=0.797	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1126	20	0	1	0
chr5	178884023	178884023	G	A	exonic	ZNF354B	.	nonsynonymous SNV	ZNF354B:NM_058230:exon5:c.G1571A:p.C524Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	.	.	0.707	D	3.695	H	-1.94	D	0.990	D	0.810	D	0.763	2.456	14.17	3.52	1.813	5.397	12.600	0.496	0.0163343582157	.	.	.	.	.	.	.	.	.	.	.	.	.	rs910902688	6.157e-06	6.156e-06	9.529e-06	2.75e-06	0.0002	2.9e-06	2.1e-06	0.0001	8.676e-05	0.0002	0	0	0	0	0	0	1.656e-05	0	6.57e-06	6.567e-06	1.285e-05	0	6.542e-05	0	0	.	.	0	0	6.542e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.706598	0.33475	D	3.83	0.95627	H	-1.94	0.84919	D	-10.92	0.99258	D	0.617	0.63289	0.990	0.97025	D	0.810	0.93597	D	9	0.9463431	0.93960	D	0.016334	0.37534	T	0.496	0.78100	0.689	0.82653	0.924472473051	0.92370	0.41145712334712814	0.41061	1.2086047739	0.80767	0.865004003048	0.91846	D	0.536097	0.84032	D	0.191127	0.73069	D	0.218292	0.84088	D	0.999335944652557	0.97004	D	0.751225	0.37284	T	0.87964237	0.89637	0.81978583	0.89525	0.87964237	0.89639	0.81978583	0.89525	-13.638	0.91821	D	.	.	0.936	0.85539	P	.	.	3.339383	0.46004	22.2	0.99348608090725099	0.60493	0.66607	0.33137	D	AEFDGBHCI	0.633744	0.61387	D	0.561522962484786	0.70787	5.552972	0.344259587146792	0.58164	3.985254	0.999931752261835	0.46732	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	3.52	3.52	0.39415	8.849000	0.91810	8.203000	0.76806	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.478000	0.28520	0.0:0.0:1.0:0.0	12.600	0.55849	929	0.16858	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1450.98	40	chr5	178884023	.	G	A	1450.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.450e-01;DP=909;ExcessHet=0.0000;FS=2.312;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.80;ReadPosRankSum=1.29;SOR=0.839	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1204	20	0	1	0
chr5	178884259	178884259	G	A	exonic	ZNF354B	.	nonsynonymous SNV	ZNF354B:NM_058230:exon5:c.G1807A:p.E603K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.106	B	0.033	B	.	.	0.709	N	0.945	L	2.93	T	-1.074	T	0.022	T	0.26	1.069	9.366	2.63	0.649	2.208	9.612	0.043	0.00494641262011	0.0023	0.000998403	0.0017	0.0012	0.0006	0	0	0.0027	0	0.0005	0.0018046	279	154602	rs77568902	0.0030	0.0030	0.0031	0.0029	0.0038	0.0030	0.0029	0.0037	0.0037	0.0004	0.0007	3.935e-05	0	7.536e-05	0	0.0038	0.0016	0.0004	0.0016	0.0016	0.0017	0.0015	0.0031	0.0015	0.0014	0.0028	0.0027	0.0004	0	0.0009	0	0	0.0002	0	0.0031	0.0005	0.0002	0.002	0.72154	D	0.003	0.76473	D	0.106	0.26037	B	0.033	0.22329	B	.	.	.	.	0.709031	0.30031	N	1.16	0.29674	L	2.93	0.09822	T	-2.56	0.55339	D	0.185	0.20129	-1.0741	0.08535	T	0.022	0.09193	T	9	0.0048362315	0.00103	T	0.004946	0.12442	T	0.043	0.11576	.	.	0.0482279557977	0.04254	0.08236951469745327	0.08171	0.374902333874	0.38949	0.435981214046	0.30028	T	0.126278	0.45255	T	-0.514842	0.00471	T	-0.514733	0.20829	T	0.0295023158452375	0.01913	T	0.40206	0.10263	T	0.2726257	0.50331	0.31280872	0.57281	0.2726257	0.50331	0.31280872	0.57280	-4.125	0.25658	T	.	.	0.097	0.15921	B	.	.	3.122114	0.42153	21.5	0.99033820054987576	0.50851	0.23327	0.22040	N	AEFBHCI	0.118809	0.23217	N	-0.595827099530192	0.19071	0.9952376	-0.59502233581629	0.19622	1.053605	0.0152513280354123	0.12692	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	3.54	2.63	0.30420	1.933000	0.39783	2.897000	0.35426	0.590000	0.31872	0.210000	0.24424	0.999000	0.35428	0.982000	0.59238	0.0:0.0:0.7896:0.2104	9.612	0.38835	929	0.16858	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1617.08	40	chr5	178884259	.	G	A	1617.08	.	AC=2;AF=0.048;AN=42;DP=839;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.34;SOR=1.390	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1204	20	1	0	0
chr5	178931402	178931402	G	C	exonic	ZFP2	.	nonsynonymous SNV	ZFP2:NM_030613:exon5:c.G89C:p.S30T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.0	B	0.0	B	0.313	N	1.000	N	0	N	3.21	T	-0.963	T	0.009	T	0.068	-1.999	0.007	-0.9	-0.078	-0.188	0.963	0.043	0.00151442065933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	0.05061	T	0.361	0.16914	T	0.0	0.02946	B	0.0	0.01387	B	0.312931	0.14402	N	0.516842	1	0.08975	N	1.005	0.25186	L	3.21	0.07125	T	-0.97	0.25770	N	0.089	0.06720	-0.9627	0.38664	T	0.009	0.03227	T	10	0.056932807	0.06461	T	0.001514	0.02343	T	0.043	0.11576	0.216	0.13643	0.107399877778	0.10242	0.11090236824060135	0.11019	0.0309473511057	0.03205	0.223104715347	0.01497	T	0.025927	0.19289	T	-0.390203	0.02682	T	-0.798276	0.01946	T	0.0595517344772816	0.07098	T	0.00688878	0.00029	T	0.055096593	0.10661	0.048267376	0.07133	0.055096593	0.10660	0.048267376	0.07133	-3.879	0.21988	T	.	.	0.073	0.05188	B	.;.;.	.;.;.	0.242586	0.06227	2.679	0.6127406073401761	0.06668	0.00162	0.00966	N	AEFBCI	0.043497	0.06883	N	-1.10322947722228	0.06585	0.3035718	-1.1184435402082	0.07347	0.3570594	2.75153718579354E-4	0.06300	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.52	-0.9	0.10008	-0.284000	0.08456	-0.347000	0.09772	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.3673:0.1518:0.3257:0.1552	0.963	0.01313	872	0.31118	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1245.98	36	chr5	178931402	.	G	C	1245.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.550e-01;DP=803;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=-9.140e-01;SOR=0.623	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1288	20	0	1	0
chr5	178986162	178986162	G	C	exonic	GRM6	.	nonsynonymous SNV	GRM6:NM_000843:exon9:c.C2092G:p.L698V,	Night blindness, congenital stationary (complete), 1B, autosomal recessive, Autosomal recessive	.	0	1515	7	0	0	7	0.00230491	.	.	105530	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.74	T	0.995	D	0.994	D	.	.	1.000	D	0.705	N	-2.42	D	-0.117	T	0.537	D	0.788	1.607	11.33	5.12	2.553	7.863	9.986	0.657	0.0277139199586	0.0062	0.00279553	0.0049	0.0021	0.0023	0	0.0016	0.0070	0.0023	0.0044	0.004987	771	154602	rs62638623	0.0082	0.0083	0.0085	0.0080	0.0100	0.0081	0.0081	0.0098	0.0098	0.0015	0.0022	0.0002	0	0.0020	0.0019	0.0100	0.0053	0.0043	0.0049	0.0049	0.0052	0.0047	0.0088	0.0047	0.0045	0.0082	0.0080	0.0020	0	0.0024	0	0	0.0010	0	0.0088	0.0028	0.0041	0.769	0.03392	T	0.644	0.06881	T	0.881	0.48446	P	0.51	0.47925	P	.	.	.	.	0.999636	0.47961	D	1.22	0.30592	L	-2.42	0.88611	D	-0.44	0.14588	N	0.823	0.81857	-0.1167	0.79711	T	0.537	0.82907	D	9	0.012792677	0.00274	T	0.027714	0.50496	D	0.657	0.87135	.	.	0.860430194584	0.85908	0.29251223687236894	0.29164	0.271339168902	0.29656	0.603164315224	0.53351	T	0.188052	0.54185	T	-0.101619	0.36157	T	0.0886459	0.76154	D	0.0693013652900819	0.08553	T	0.954105	0.82551	D	0.1523593	0.34591	0.135132	0.32362	0.14026096	0.32367	0.11007371	0.26536	-7.785	0.59595	D	0.20156662135405184	0.26783	0.168	0.36889	B	.;.;.	.;.;.	4.813338	0.78331	26.9	0.98728080588668932	0.45304	0.99123	0.91564	D	AEFDBI	0.929862	0.91627	D	0.331440593096784	0.57770	3.945613	0.39143314837022	0.61036	4.29827	0.988659591547865	0.31586	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.12	5.12	0.69459	8.053000	0.89235	11.619000	0.93604	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.538000	0.29892	0.0931:0.0:0.9069:0.0	9.986	0.41015	739	0.53257	GPCR family 3, C-terminal|GPCR family 3, C-terminal;GPCR family 3, C-terminal|GPCR family 3, C-terminal;GPCR family 3, C-terminal|GPCR family 3, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2174.98	41	chr5	178986162	.	G	C	2174.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.528e+00;DP=1015;ExcessHet=0.0000;FS=1.131;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=0.836;SOR=0.600	GT:AD:DP:GQ:PL	0/1:98,89:187:99:2189,0,2545	20	0	1	0
chr5	178986908	178986908	G	A	exonic	GRM6	.	nonsynonymous SNV	GRM6:NM_000843:exon8:c.C1430T:p.A477V,	Night blindness, congenital stationary (complete), 1B, autosomal recessive, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	1006076	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.63	T	0.187	B	0.029	B	.	.	1.000	N	-0.55	N	-2.05	D	-0.878	T	0.220	T	0.139	0.091	4.491	0.2	0.163	3.351	6.942	0.180	0.0133204977475	7.7e-05	.	7.472e-05	0	0	0.0002	0	4.532e-05	0	0.0002	6.47e-05	10	154602	rs201164865	4.31e-05	4.309e-05	2.723e-05	5.913e-05	0.0010	3.443e-05	3.129e-05	0.0005	0.0003	2.987e-05	4.472e-05	0	0.0001	0	0.0010	1.709e-05	6.623e-05	0.0003	5.912e-05	5.909e-05	3.853e-05	8.066e-05	0.0008	3.076e-05	2.209e-05	0.0003	0.0002	2.412e-05	0	6.539e-05	0	0.0008	0	0	4.409e-05	0	0	0.502	0.07695	T	0.547	0.09522	T	0.002	0.09854	B	0.004	0.10090	B	.	.	.	.	0.999933	0.19363	N	-1.385	0.00624	N	-2.05	0.85799	D	0.27	0.04306	N	0.164	0.17278	-0.8778	0.49935	T	0.220	0.58240	T	9	0.027757764	0.00916	T	0.01332	0.32631	T	0.180	0.45073	.	.	0.611248696395	0.60812	0.3188133152572899	0.31794	0.101288994905	0.11461	0.434477329254	0.29821	T	0.101196	0.40773	T	-0.355646	0.04382	T	-0.39226	0.34286	T	0.0327337349698805	0.02427	T	0.835616	0.50622	T	0.070882484	0.15649	0.06926932	0.14574	0.070882484	0.15649	0.06926932	0.14574	-4.753	0.34039	T	0.10193952680562984	0.07691	0.077	0.06433	B	.;.;.	.;.;.	3.111813	0.41976	21.5	0.89629562092074255	0.18962	0.11881	0.16921	N	AEFDBI	0.084370	0.17098	N	-0.947212316521131	0.09755	0.4631016	-0.867568657420865	0.12866	0.6643043	4.09504598400641E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.74	0.2	0.14459	3.109000	0.50037	1.798000	0.28858	0.590000	0.31872	0.074000	0.22182	0.950000	0.28999	0.434000	0.27538	0.5573:0.0:0.4427:0.0	6.942	0.23678	729	0.54495	Receptor, ligand binding region;Receptor, ligand binding region;Receptor, ligand binding region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2118.98	41	chr5	178986908	.	G	A	2118.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.041e+00;DP=2027;ExcessHet=0.0000;FS=0.538;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=-7.570e-01;SOR=0.744	GT:AD:DP:GQ:PL	0/0:77,0:77:99:0,120,1800	20	0	1	0
chr5	178991554	178991554	C	A	exonic	GRM6	.	nonsynonymous SNV	GRM6:NM_000843:exon4:c.G727T:p.V243F,	Night blindness, congenital stationary (complete), 1B, autosomal recessive, Autosomal recessive	YES	0	1455	66	1	0	68	0.0228341	.	.	105546	Congenital_stationary_night_blindness_1B|not_specified|not_provided|GRM6-related_disorder	MONDO:MONDO:0009758,MedGen:C1850362,OMIM:257270,Orphanet:215|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.979	D	0.883	P	.	.	0.996	D	2.47	M	-2.23	D	0.649	D	0.767	D	0.764	4.278	22.4	5.16	2.575	1.436	16.538	0.604	.	0.0019	0.00319489	0.0046	0.0004	0.0014	0	0.0003	0.0048	0.0067	0.0129	0.0042173	652	154602	rs17078894	0.0038	0.0038	0.0033	0.0042	0.0144	0.0037	0.0036	0.0128	0.0125	0.0003	0.0017	0.0377	2.52e-05	0.0004	0.0144	0.0025	0.0056	0.0134	0.0032	0.0032	0.0030	0.0033	0.0145	0.0029	0.0028	0.0118	0.0108	0.0006	0	0.0028	0.0421	0.0002	0	0.0068	0.0027	0.0052	0.0145	0.001	0.78490	D	0.004	0.74150	D	0.979	0.59044	D	0.883	0.62698	P	.	.	.	.	0.995925	0.42925	D	2.395	0.69210	M	-2.23	0.87116	D	-3.64	0.69835	D	0.771	0.87590	0.649	0.92536	D	0.767	0.92072	D	9	0.015617073	0.00328	T	.	.	.	0.604	0.84398	.	.	0.881730640562	0.88057	0.5530409845540497	0.55230	0.450566886049	0.44827	0.481126189232	0.36211	T	0.642794	0.89066	D	-0.126361	0.32085	T	0.0567458	0.74028	D	0.0345301796586626	0.02728	T	0.963604	0.86445	D	0.61503285	0.73498	0.63056123	0.78449	0.62473875	0.74018	0.6487359	0.79454	-14.153	0.93543	D	0.4373697868778072	0.52348	0.356	0.56952	A	.;.;.	.;.;.	4.541005	0.71374	25.7	0.99638721072216774	0.76510	0.90557	0.51832	D	AEFDBI	0.365301	0.45352	N	0.572894785320832	0.71485	5.658235	0.5271236060106	0.69822	5.415446	0.278587631831547	0.18964	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	5.16	5.16	0.70563	0.841000	0.27267	2.789000	0.34784	0.599000	0.40250	0.283000	0.25169	0.988000	0.31051	0.992000	0.67800	0.0:1.0:0.0:0.0	16.538	0.84224	691	0.58815	Receptor, ligand binding region;Receptor, ligand binding region;Receptor, ligand binding region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2746.11	35	chr5	178991554	.	C	A	2746.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.39;DP=888;ExcessHet=0.1072;FS=1.038;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=-1.400e-01;SOR=0.606	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1265	19	0	2	0
chr5	179032409	179032409	G	A	exonic	ZNF879	.	nonsynonymous SNV	ZNF879:NM_001353374:exon4:c.G461A:p.S154N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.0	B	0.0	B	.	.	1.000	D	1.47	L	3.28	T	-0.967	T	0.013	T	0.023	0.281	5.520	0.612	-0.012	-0.309	1.080	0.081	0.00127541074409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	0.12632	T	0.521	0.10429	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999855	0.20048	N	1.08	0.27187	L	3.28	0.06523	T	-0.97	0.25770	N	0.018	0.00252	-0.9668	0.37854	T	0.013	0.05273	T	9	0.03626585	0.01917	T	0.001275	0.01733	T	0.081	0.23632	0.307	0.27806	0.0482279557977	0.04254	0.03370360156343105	0.03318	0.120126733266	0.13526	0.303271383047	0.10889	T	0.001988	0.01394	T	-0.400713	0.02290	T	-0.813373	0.01590	T	0.0349573503527798	0.02800	T	0.0447955	0.00316	T	0.045567982	0.07481	0.05934759	0.11122	0.045567982	0.07481	0.05934759	0.11121	-4.588	0.32020	T	.	.	0.070	0.03552	B	.	.	1.039843	0.14203	10.78	0.69288680274115944	0.08925	0.12509	0.17312	N	AEFBCI	.	.	.	-0.716800936270708	0.15550	0.7846029	-0.71102006232121	0.16686	0.8838936	0.0124876779663373	0.12334	0.562547	0.31514	0	0.573888	0.26702	0	0.54472	0.12158	0	0.635551	0.53088	0	.	.	4.59	0.612	0.16768	0.139000	0.15858	-1.111000	0.06297	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.991000	0.66497	0.2717:0.1538:0.4169:0.1576	1.080	0.01539	625	0.65529	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02778	64.09	90	chr5	179032409	.	G	A	64.09	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.774e+00;DP=1740;ExcessHet=0.0000;FS=152.580;InbreedingCoeff=-0.0636;MLEAC=1;MLEAF=0.028;MQ=60.00;MQRankSum=0.00;QD=0.65;ReadPosRankSum=1.65;SOR=7.784	GT:AD:DP:GQ:PL	0/0:98,0:98:99:0,120,1800	17	0	1	3
chr5	179079176	179079176	G	C	exonic	ZNF354C	.	nonsynonymous SNV	ZNF354C:NM_014594:exon5:c.G744C:p.E248D,	.	.	412	1107	2	0	1	3	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.266	B	0.166	B	.	.	1.000	N	0.545	N	3.19	T	-0.941	T	0.005	T	0.09	1.759	11.84	-1.49	-0.230	-3.578	8.540	0.016	.	0.0109	0.00878594	0.0027	0.0314	0.0010	0	0	1.502e-05	0.0011	0	0.0026261	406	154602	rs73806871	0.0009	0.0009	0.0010	0.0008	0.0311	0.0008	0.0008	0.0295	0.0289	0.0311	0.0014	0	0	0	0.0009	4.856e-05	0.0020	9.275e-05	0.0086	0.0086	0.0086	0.0086	0.0299	0.0082	0.0081	0.0285	0.0280	0.0299	0	0.0029	0	0	0	0	0.0001	0.0066	0	0.18	0.21968	T	0.241	0.24334	T	0.266	0.31648	B	0.166	0.35067	B	.	.	.	.	0.999964	0.18878	N	0.18	0.09070	N	3.19	0.07353	T	-2.4	0.52776	N	0.067	0.03956	-0.9413	0.42410	T	0.005	0.01833	T	9	0.005884379	0.00132	T	.	.	.	0.016	0.02506	0.369	0.37850	0.0884992946249	0.08302	0.0719089405218831	0.07127	0.103376873501	0.11688	0.338298857212	0.16183	T	0.022545	0.17365	T	-0.717999	0.00028	T	-0.780447	0.02440	T	0.0189999789355052	0.00609	T	0.180982	0.01814	T	0.10517152	0.24866	0.14627737	0.34660	0.10517152	0.24865	0.14627737	0.34659	-6.172	0.47696	T	.	.	0.189	0.40618	B	.	.	1.318186	0.17221	13.03	0.99491848655026349	0.67516	0.00346	0.01789	N	AEFBHCI	0.100966	0.20290	N	-1.00497166837229	0.08499	0.3987779	-1.02421919503319	0.09253	0.4593264	5.56717297935958E-4	0.07304	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.221012	0.04332	2	.	.	3.7	-1.49	0.08259	-4.144000	0.00324	-0.622000	0.08169	-0.169000	0.11342	0.000000	0.06391	0.001000	0.17328	0.994000	0.71098	0.6917:0.0:0.3083:0.0	8.540	0.32551	856	0.34373	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1908.98	34	chr5	179079176	.	G	C	1908.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.74;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=-1.059e+00;SOR=0.700	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1224	20	0	1	0
chr5	179126029	179126029	C	T	exonic	ADAMTS2	.	nonsynonymous SNV	ADAMTS2:NM_014244:exon18:c.G2719A:p.A907T,	Ehlers-Danlos syndrome, type VIIC, Autosomal recessive	.	0	1515	7	0	0	7	0.00230491	.	.	954138	Inborn_genetic_diseases|Ehlers-Danlos_syndrome,_dermatosparaxis_type|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410,Orphanet:1901|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.58	T	0.0	B	0.007	B	0.177	N	1.000	N	0.88	L	0.43	T	-1.028	T	0.081	T	0.031	0.213	5.149	-0.146	-0.274	-1.401	6.157	0.050	0.0223883361079	.	0.000399361	0.0003	0	0.0002	0	0	0.0003	0	0.0008	0.0002458	38	154602	rs199617528	0.0001	0.0001	9.67e-05	0.0002	0.0012	0.0001	0.0001	0.0007	0.0007	0	8.944e-05	0	0	0	0.0012	7.644e-05	0.0002	0.0009	8.53e-05	8.529e-05	2.568e-05	0.0001	0.0017	4.951e-05	3.958e-05	0.0008	0.0006	0	0	6.531e-05	0	0.0002	0	0	4.409e-05	0	0.0017	0.576	0.06067	T	0.566	0.08930	T	0.0	0.02946	B	0.007	0.12992	B	0.176666	0.17218	N	0.518916	1	0.08975	N	0.18	0.09070	N	0.43	0.56772	T	-0.27	0.11366	N	0.081	0.05670	-1.0280	0.21103	T	0.081	0.32090	T	10	0.014906406	0.00313	T	0.022388	0.45274	T	0.050	0.13987	.	.	0.246926113748	0.24311	0.14767049318729022	0.14689	0.392667314243	0.40446	0.37970739603	0.22215	T	0.081376	0.36582	T	-0.589493	0.00169	T	-0.692347	0.06254	T	0.00809484054131772	0.00096	T	.	.	.	0.04636358	0.07747	0.049068276	0.07421	0.04636358	0.07747	0.049068276	0.07421	-4.578	0.31894	T	.	.	0.069	0.03231	B	.;.	.;.	0.063826	0.04739	1.367	0.91130517927257149	0.20383	0.04757	0.10463	N	AEFBI	0.130832	0.24954	N	-1.08279507813534	0.06960	0.321922	-1.0875609145936	0.07944	0.3885209	0.0593079904116945	0.15157	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.95	-0.146	0.12775	-1.023000	0.03718	-2.569000	0.03598	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.563000	0.30483	0.0:0.5895:0.126:0.2844	6.157	0.19562	662	0.61715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	942.98	35	chr5	179126029	.	C	T	942.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.261e+00;DP=818;ExcessHet=0.0000;FS=3.064;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=-1.628e+00;SOR=0.408	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	20	0	1	0
chr5	179345258	179345258	-	GCAGCAGCAGCAGCA	exonic	ADAMTS2	.	nonframeshift insertion	ADAMTS2:NM_014244:exon1:c.70_71insTGCTGCTGCTGCTGC:p.L23_P24insLLLLL	Ehlers-Danlos syndrome, type VIIC, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1686341	Ehlers-Danlos_syndrome,_dermatosparaxis_type|not_provided	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410,Orphanet:1901|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs568040559	2.123e-05	1.574e-05	1.933e-05	2.33e-05	0.0003	1.364e-05	1.157e-05	0.0001	8.041e-05	0.0001	0	0	0.0003	0	0	1.617e-05	0	0	2.04e-05	1.989e-05	1.326e-05	2.791e-05	0.0001	5.42e-06	2.5e-06	2.312e-05	9.26e-06	2.496e-05	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5145.56	17	chr5	179345258	.	G	GGCA,GGCAGCAGCAGCAGCA	5145.56	.	AC=6,1;AF=0.143,0.024;AN=42;BaseQRankSum=-2.730e-01;DP=757;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=6,1;MLEAF=0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=15.74;ReadPosRankSum=-2.730e-01;SOR=0.684	GT:AD:DP:GQ:PL	0/0:36,0,0:36:99:0,102,1001,102,1001,1001	14	0	6	0
chr5	179522611	179522615	CATTG	-	exonic	C5orf60	.	frameshift deletion	C5orf60:NM_001142306:exon1:c.129_133del:p.I44Vfs*30	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1300272109	1.283e-05	0.0005	1.904e-05	6.86e-06	5.518e-05	6.88e-06	5.03e-06	8.38e-06	6.11e-06	5.518e-05	0	0	0	0	0	1.659e-05	0	0	1.595e-05	0.0018	0	3.275e-05	7.351e-05	2.65e-06	9.9e-07	.	.	0	0	7.351e-05	0	0	0	0	1.725e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	71.29	33	chr5	179522610	.	TCATTG	T	71.29	.	AC=2;AF=0.053;AN=38;DP=1020;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.7330;MLEAC=1;MLEAF=0.026;MQ=36.12;QD=28.68;SOR=2.303	GT:AD:DP:GQ:PL	0/0:84,0:84:99:0,120,1800	18	1	0	2
chr5	179522611	179522611	C	0	exonic	C5orf60	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	21034.34	33	chr5	179522611	.	C	T,*	21034.34	.	AC=11,2;AF=0.306,0.056;AN=36;BaseQRankSum=-1.750e-01;DP=1073;ExcessHet=0.0378;FS=0.561;InbreedingCoeff=0.3964;MLEAC=13,1;MLEAF=0.361,0.028;MQ=58.35;MQRankSum=1.99;QD=28.08;ReadPosRankSum=-4.950e-01;SOR=0.788	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,50,0:85:99:0|1:179522611_C_T:1994,0,1308,2099,1459,3558:179522611	9	3	5	3
chr5	179522612	179522612	A	0	exonic	C5orf60	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	21034.34	33	chr5	179522612	.	A	G,*	21034.34	.	AC=11,2;AF=0.306,0.056;AN=36;BaseQRankSum=1.64;DP=1065;ExcessHet=0.0378;FS=0.561;InbreedingCoeff=0.3964;MLEAC=13,1;MLEAF=0.361,0.028;MQ=58.37;MQRankSum=1.99;QD=28.08;ReadPosRankSum=-4.910e-01;SOR=0.788	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,50,0:85:99:0|1:179522611_C_T:1994,0,1308,2099,1459,3558:179522611	9	3	5	3
chr5	179614914	179614914	C	T	exonic	HNRNPH1	.	nonsynonymous SNV	HNRNPH1:NM_001364230:exon12:c.G1286A:p.R429H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	.	.	.	.	0.015	N	1.000	D	.	.	2.88	T	-1.190	T	0.083	T	0.406	2.756	15.18	5.91	2.794	4.442	20.290	0.108	0.0163674812495	.	.	0.0004	0	0	0	0	0	0	0.0008	3.88e-05	6	154602	rs750283108	6.295e-05	6.088e-05	5.082e-05	7.542e-05	0.0009	5.188e-05	4.838e-05	0.0008	0.0007	9.497e-05	2.801e-05	0	0	0	0.0002	5.562e-06	5.174e-05	0.0009	3.284e-05	3.281e-05	2.571e-05	4.03e-05	0.0004	1.26e-05	7.98e-06	7.293e-05	3.03e-05	0	0	0	0	0	0	0	4.41e-05	0	0.0004	0.069	0.35537	T	0.54	0.09760	T	.	.	.	.	.	.	0.015348	0.28271	N	0.418719	0.999975	0.81001	D	.	.	.	2.88	0.10291	T	0.25	0.04456	N	0.178	0.19190	-1.1895	0.00247	T	0.083	0.32527	T	7	0.08170688	0.13404	T	0.016367	0.37594	T	0.108	0.30607	0.388	0.40951	0.455950981622	0.45219	.	.	.	.	.	.	.	.	.	.	-0.401997	0.02247	T	-0.439372	0.28879	T	0.101138058045865	0.12482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.44630	B	.	.	1.891280	0.24020	16.24	0.9977186941090429	0.86003	0.96564	0.69771	D	AEFDBHCI	0.829457	0.74836	D	0.453917290521913	0.64426	4.696847	0.547936030148914	0.71255	5.626867	0.999999999999255	0.74766	0.645754	0.44609	0	0.697927	0.68747	0	0.702456	0.68683	0	0.723	0.93126	0	.	.	5.91	5.91	0.95240	4.512000	0.60187	2.254000	0.31710	0.599000	0.40250	1.000000	0.71638	0.991000	0.31484	0.985000	0.61073	0.0:1.0:0.0:0.0	20.290	0.98543	917	0.20147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1884.98	35	chr5	179614914	.	C	T	1884.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.65;DP=963;ExcessHet=0.0000;FS=1.830;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.47;ReadPosRankSum=-1.361e+00;SOR=0.844	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr5	179642360	179642360	G	T	exonic	C5orf60	.	nonsynonymous SNV	C5orf60:NM_001142306:exon5:c.C813A:p.H271Q	.	.	423	1091	8	0	0	8	0.00365297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.993	D	0.769	P	.	.	1.000	N	.	.	1.69	T	-1.044	T	0.092	T	0.085	0.107	4.575	0.517	0.539	0.490	.	0.131	.	.	0.00459265	0.0010	0	0	0.0113	0	0.0004	0.0158	0.0008	0.0003622	56	154602	rs78275765	0.0014	0.0014	0.0015	0.0014	0.0400	0.0014	0.0014	0.0383	0.0376	6.332e-05	0.0057	0	0.0400	0.0001	0.0005	0.0002	0.0014	0.0013	0.0012	0.0012	0.0011	0.0013	0.0239	0.0011	0.0010	0.0204	0.0192	0.0001	0	0.0016	0	0.0239	0	0	0.0003	0.0019	0.0023	.	.	.	.	.	.	0.993	0.65571	D	0.769	0.56777	P	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-1.0440	0.16118	T	0.092	0.35146	T	7	0.0036977232	0.00068	T	.	.	.	.	.	0.025	0.00002	.	.	0.07216414533255712	0.07153	.	.	.	.	.	.	.	.	-0.646441	0.00076	T	-0.680395	0.06960	T	0.0559693887490293	0.06519	T	0.182682	0.01864	T	.	.	.	.	.	.	.	.	-2.381	0.05018	T	.	.	.	.	.	.	.	0.091828	0.04953	1.521	0.74673630165092586	0.10784	0.00497	0.02345	N	AEFBI	0.041459	0.06306	N	-0.462156089597712	0.23328	1.252051	-0.76014960993118	0.15473	0.8139635	1.40809719591849E-5	0.02871	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	0.517	0.517	0.16223	0.010000	0.13140	-3.269000	0.02919	-0.829000	0.02890	0.003000	0.16062	0.000000	0.08366	0.000000	0.00833	.	.	.	867	0.32089	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1303.98	57	chr5	179642360	.	G	T	1303.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.587;DP=1299;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.19;MQRankSum=-1.077e+00;QD=12.66;ReadPosRankSum=0.485;SOR=0.651	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	20	0	1	0
chr5	179643128	179643128	G	A	exonic	C5orf60	.	nonsynonymous SNV	C5orf60:NM_001142306:exon4:c.C424T:p.P142S	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.001	B	0.001	B	.	.	1.000	N	1.32	L	0.28	T	-1.053	T	0.016	T	0.067	-1.190	0.078	-1.4	-2.396	-1.378	.	0.085	.	.	0.0123802	0.0036	0	0	0.0671	0	0.0015	0	0.0015	0.0035347	92	26028	rs139773355	0.0018	0.0017	0.0018	0.0018	0.0588	0.0017	0.0017	0.0567	0.0559	0	8.405e-05	0.0028	0.0588	0	0.0004	4.635e-05	0.0030	0.0010	0.0020	0.0020	0.0019	0.0021	0.0523	0.0018	0.0018	0.0472	0.0452	0	0	0.0003	0.0026	0.0523	0	0	0.0001	0.0024	0.0023	.	.	.	.	.	.	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	.	.	.	.	.	.	.	.	-1.0530	0.13574	T	0.016	0.06473	T	8	0.0024322867	0.00036	T	.	.	.	.	.	.	.	.	.	0.03078152576066168	0.03027	.	.	.	.	.	.	.	.	-0.677945	0.00049	T	-0.701807	0.05727	T	0.0147068949459723	0.00306	T	0.390761	0.09705	T	.	.	.	.	.	.	.	.	-4.097	0.25246	T	.	.	.	.	.	.	.	-0.066954	0.03841	0.826	0.40268138993184188	0.02831	0.00037	0.00318	N	AEFBI	0.020840	0.00864	N	-1.68905868655419	0.00881	0.03813686	-1.840862219455	0.00637	0.02830478	7.11225557740254E-4	0.07685	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	0.702	-1.4	0.08499	-1.498000	0.02392	-1.730000	0.04832	-2.662000	0.00220	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	867	0.32089	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	429.15	37	chr5	179643128	.	G	A	429.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.49;DP=737;ExcessHet=0.0000;FS=3.526;InbreedingCoeff=-0.0312;MLEAC=1;MLEAF=0.024;MQ=46.98;MQRankSum=-7.890e-01;QD=13.41;ReadPosRankSum=0.00;SOR=1.525	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr5	179643149	179643149	C	A	exonic	C5orf60	.	nonsynonymous SNV	C5orf60:NM_001142306:exon4:c.G403T:p.G135W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.991	D	.	.	1.000	N	1.24	L	0.15	T	-0.864	T	0.241	T	0.315	1.090	9.450	-0.376	-0.160	0.399	.	0.102	0.0106743411658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.90584	D	0.991	0.79672	D	.	.	.	.	1	0.08975	N	1.545	0.39105	L	.	.	.	.	.	.	.	.	-0.8643	0.50952	T	0.241	0.60869	T	8	0.2428211	0.41485	T	0.010674	0.27473	T	.	.	0.383	0.40134	.	.	0.02819601404017556	0.02769	.	.	.	.	.	.	.	.	-0.0935336	0.37493	T	-0.372131	0.36639	T	0.874239239196363	0.52409	D	0.489451	0.15024	T	.	.	.	.	.	.	.	.	-5.253	0.39476	T	.	.	.	.	.	.	.	0.001373	0.04291	1.077	0.98492337241095862	0.42108	0.00262	0.01432	N	AEFBI	0.052628	0.09412	N	-0.525036336654505	0.21272	1.12773	-0.84092631791393	0.13506	0.7009747	1.20857068607466E-5	0.02871	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	0.702	-0.376	0.11883	0.936000	0.28536	-3.694000	0.02600	-0.425000	0.05218	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	.	.	.	867	0.32089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	522.15	21	chr5	179643149	.	C	A	522.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.060e+00;DP=645;ExcessHet=0.0000;FS=1.495;InbreedingCoeff=-0.0312;MLEAC=1;MLEAF=0.024;MQ=41.95;MQRankSum=-1.623e+00;QD=13.74;ReadPosRankSum=0.881;SOR=1.012	GT:AD:DP:GQ:PL	0/0:36,0:36:93:0,93,1395	20	0	1	0
chr5	179643209	179643209	A	G	exonic	C5orf60	.	nonsynonymous SNV	C5orf60:NM_001142306:exon4:c.T343C:p.C115R	.	.	428	1078	16	0	0	16	0.00736648	0.0002	0.008	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.001	B	0.001	B	.	.	1.000	N	0.55	N	2.08	T	-0.979	T	0.024	T	0.372	-1.735	0.011	-1.48	-1.073	-1.241	.	0.042	0.00118552205494	.	0.000399361	0.0016	0	0	0.0019	0	0.0037	0	0.0003	0.0004786	74	154602	rs557513997	0.0017	0.0033	0.0017	0.0017	0.0037	0.0016	0.0016	0.0026	0.0024	0.0010	0.0030	0.0029	0.0011	0.0034	0.0037	0.0016	0.0021	0.0003	0.0028	0.0037	0.0031	0.0025	0.0038	0.0026	0.0025	0.0034	0.0033	0.0010	0	0.0032	0.0040	0.0012	0.0051	0.0034	0.0038	0.0024	0	.	.	.	.	.	.	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	.	.	.	.	.	.	.	.	-0.9789	0.35254	T	0.024	0.10239	T	8	0.0059596896	0.00134	T	0.001186	0.01509	T	.	.	.	.	.	.	0.0804678863194495	0.07981	.	.	.	.	.	.	.	.	-0.246973	0.14473	T	-0.592536	0.13446	T	0.0185319553198107	0.00569	T	0.215078	0.02668	T	.	.	.	.	.	.	.	.	-1.367	0.01513	T	.	.	.	.	.	.	.	-0.211384	0.03032	0.465	0.13934451193606925	0.00291	0.00032	0.00291	N	AEFBI	0.025095	0.01660	N	-1.6959820428029	0.00856	0.037037	-1.79885500045798	0.00763	0.03401895	3.55767282508773E-5	0.03775	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	0.742	-1.48	0.08286	-0.708000	0.05138	-5.002000	0.01891	-2.297000	0.00323	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	867	0.32089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	154.02	18	chr5	179643209	.	A	G	154.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.26;DP=473;ExcessHet=0.0000;FS=6.368;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.024;MQ=42.59;MQRankSum=-1.846e+00;QD=10.27;ReadPosRankSum=-2.450e-01;SOR=2.964	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,907	20	0	1	0
chr5	179651890	179651890	T	C	exonic	C5orf60	.	nonsynonymous SNV	C5orf60:NM_001142306:exon4:c.T659C:p.L220P	.	.	429	1084	4	0	5	9	0.00184162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.0	B	0.0	B	.	.	.	.	.	.	1.93	T	-1.028	T	0.061	T	0.039	-1.326	0.032	-0.693	-1.618	-0.878	.	0.022	.	.	.	0.0035	0.0166	0.0117	0.0032	0	0.0016	0	0.0025	0.0001035	16	154602	rs567530098	0.0011	0.0017	0.0010	0.0011	0.0094	0.0010	0.0010	0.0085	0.0082	0.0094	0.0014	0.0002	0.0018	6.221e-05	0.0016	0.0007	0.0022	0.0022	0.0063	0.0065	0.0064	0.0062	0.0179	0.0060	0.0058	0.0168	0.0164	0.0179	0	0.0030	0	0.0043	0	0	0.0018	0.0043	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	184.0	33	chr5	179651890	.	T	C	184.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.197e+00;DP=687;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0259;MLEAC=1;MLEAF=0.024;MQ=48.93;MQRankSum=1.10;QD=5.11;ReadPosRankSum=0.979;SOR=0.634	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1192	20	0	1	0
chr5	179733353	179733353	A	C	exonic	MAML1	.	nonsynonymous SNV	MAML1:NM_014757:exon1:c.A241C:p.T81P,	.	.	405	1113	2	0	2	4	0.000897666	.	.	2334360	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.25	T	0.0	B	0.0	B	0.501	N	1.000	N	-1.245	N	1.84	T	-0.990	T	0.016	T	0.126	-0.804	0.665	-0.8	-0.415	-0.984	.	0.013	0.364045220232	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs1181039293	0.0004	0.0004	0.0004	0.0004	0.0067	0.0004	0.0004	0.0044	0.0037	0.0020	0.0002	0	4.368e-05	0	0.0067	0.0004	0.0008	0	0.0004	0.0004	0.0004	0.0004	0.0006	0.0003	0.0003	0.0004	0.0004	0.0003	0	0.0002	0	0.0002	0	0	0.0006	0.0005	0	0.556	0.06461	T	0.35	0.17478	T	0.0	0.02946	B	0.0	0.01387	B	0.500796	0.11952	N	0.645913	0.999994	0.08975	N	-0.805	0.01590	N	1.84	0.24656	T	0.48	0.03041	N	0.078	0.05287	-0.9895	0.32727	T	0.016	0.06521	T	9	0.03294733	0.01458	T	0.364045	0.92583	D	0.013	0.01715	0.193	0.10437	0.21174354426	0.20776	0.2036546507689071	0.20282	2.16513908012	0.95402	0.872025847435	0.92856	D	0.222516	0.58639	T	-0.520645	0.00436	T	-0.566199	0.15800	T	0.0322306735085712	0.02344	T	.	.	.	0.09387436	0.22058	0.14964598	0.35324	0.09387436	0.22057	0.14964598	0.35323	-0.247	0.00449	T	.	.	0.047	0.00070	B	.	.	-0.673381	0.01383	0.080	0.30179850268404473	0.01638	0.00506	0.02376	N	AEFDGBHCI	0.028488	0.02518	N	-1.61030763429906	0.01214	0.05278206	-1.6487976611737	0.01382	0.06243842	0.999999762591167	0.74766	0.242642	0.04205	2	0.166054	0.03914	2	0.391439	0.06340	0	0.56214	0.19341	0	.	.	0.4	-0.8	0.10347	-0.533000	0.06245	-2.421000	0.03775	-3.181000	0.00113	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	.	.	.	793	0.45818	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	221.98	13	chr5	179733353	.	A	C	221.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.561;DP=643;ExcessHet=0.0000;FS=1.824;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.65;ReadPosRankSum=-2.144e+00;SOR=1.270	GT:AD:DP:GQ:PL	0/0:35,0:35:81:0,81,1215	20	0	1	0
chr5	179766127	179766127	G	A	exonic	MAML1	.	nonsynonymous SNV	MAML1:NM_014757:exon2:c.G1117A:p.A373T,	.	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.968	D	0.569	P	0.030	N	0.929	N	1.24	L	1.88	T	-1.063	T	0.052	T	0.1	2.229	13.41	2.05	0.108	1.406	6.068	0.029	0.00705784391548	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1486672153	7.732e-06	1.3e-05	4.178e-06	1.136e-05	9.979e-05	4.15e-06	3.03e-06	4.88e-05	3.59e-05	0	0	0	0	0	0	9.144e-07	3.418e-05	9.979e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.18371	T	0.722	0.05309	T	0.532	0.37747	P	0.079	0.28749	B	0.029832	0.25397	N	0.366248	0.929145	0.27103	N	1.585	0.39878	L	1.88	0.23884	T	-0.11	0.08653	N	0.091	0.06990	-1.0631	0.10997	T	0.052	0.22153	T	10	0.15491086	0.29210	T	0.007058	0.18704	T	0.029	0.06676	0.193	0.10437	0.2338531098	0.23012	0.41701750901651596	0.41617	0.112657539828	0.12719	0.451082408428	0.32092	T	0.347881	0.71594	T	-0.269989	0.11759	T	-0.625597	0.10751	T	0.35590118548102	0.27249	T	.	.	.	0.018038608	0.00326	0.039568305	0.04079	0.018038608	0.00326	0.039568305	0.04078	-4.29	0.28037	T	.	.	0.064	0.01786	B	.	.	1.461042	0.18836	13.95	0.99308587240994672	0.58906	0.93360	0.58009	D	AEFBI	0.233804	0.35666	N	-0.161536616601307	0.34744	1.986996	-0.131670965149399	0.34122	1.959232	0.999680776084353	0.41756	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.591603	0.36755	0	.	.	4.88	2.05	0.25860	1.148000	0.31226	2.512000	0.33079	-0.169000	0.11342	0.993000	0.37899	0.997000	0.33255	0.100000	0.18284	0.2227:0.0:0.645:0.1323	6.068	0.19100	872	0.31118	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	826.98	33	chr5	179766127	.	G	A	826.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.68;DP=788;ExcessHet=0.0000;FS=3.064;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.74;ReadPosRankSum=0.015;SOR=1.121	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1053	20	0	1	0
chr5	179769084	179769084	G	A	exonic	MAML1	.	nonsynonymous SNV	MAML1:NM_014757:exon3:c.G1966A:p.E656K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.041	B	0.011	B	0.001	D	1.000	D	2.215	M	0.27	T	-0.809	T	0.202	T	0.601	3.761	19.09	4.89	2.257	7.191	17.649	0.184	0.027065426129	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252760902	2.052e-06	2.052e-06	2.723e-06	1.375e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.504	0.11041	T	0.003	0.11197	B	0.002	0.06944	B	0.000814	0.41658	D	0.160814	0.99999	0.58761	D	2.375	0.68372	M	0.27	0.59176	T	-2.7	0.57599	D	0.649	0.66016	-0.8093	0.54593	T	0.202	0.55850	T	10	0.45849344	0.59138	T	0.027065	0.49920	D	0.184	0.45763	0.262	0.20631	0.387796008065	0.38391	0.39795397681723466	0.39710	0.152956754088	0.17256	0.750826895237	0.74568	T	0.75889	0.93452	D	0.0426929	0.57396	T	-0.176451	0.56850	T	0.904676198959351	0.55820	D	.	.	.	0.2447524	0.47427	0.22296095	0.47158	0.2447524	0.47427	0.22296095	0.47157	-10.374	0.76120	D	.	.	0.816	0.78022	P	.	.	3.853027	0.55833	23.7	0.99803751184160661	0.88817	0.90208	0.51205	D	AEFBHCI	0.806448	0.73075	D	0.0776111662819309	0.45419	2.798797	0.224137723799962	0.51191	3.303708	0.999999999990924	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	4.89	4.89	0.63387	7.303000	0.78192	11.336000	0.92548	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:1.0:0.0	17.649	0.88061	883	0.28872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	930.98	35	chr5	179769084	.	G	A	930.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.25;ReadPosRankSum=1.08;SOR=0.717	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1575	20	0	1	0
chr5	179774000	179774000	A	G	exonic	MAML1	.	nonsynonymous SNV	MAML1:NM_014757:exon5:c.A2174G:p.H725R,	.	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.965	D	0.549	P	0.000	D	0.695	D	1.735	L	0.89	T	-0.760	T	0.123	T	0.557	1.464	10.84	3.86	1.920	4.564	11.571	0.125	0.0358730831021	.	0.000199681	8.247e-05	9.619e-05	0	0	0	0.0001	0	0	7.76e-05	12	154602	rs200552115	0.0001	0.0001	0.0001	0.0002	0.0033	0.0001	0.0001	0.0022	0.0018	0.0012	2.236e-05	0	0	0	0.0033	9.352e-05	0.0004	2.319e-05	9.846e-05	0.0001	8.991e-05	0.0001	0.0001	6.001e-05	4.875e-05	6.266e-05	4.289e-05	0.0001	0	6.534e-05	0	0	0	0	0.0001	0.0005	0	0.02	0.49613	D	0.39	0.15506	T	0.965	0.56013	D	0.549	0.49194	P	0.000184	0.48115	D	0.142501	0.694819	0.33362	D	2.54	0.74080	M	0.89	0.45636	T	-1.97	0.45587	N	0.442	0.48042	-0.7601	0.57400	T	0.123	0.42462	T	10	0.2664847	0.44154	T	0.035873	0.56631	D	0.125	0.34456	.	.	0.488432995468	0.48476	0.34408772170986784	0.34322	0.36447533085	0.38064	0.605664253235	0.53705	T	0.457516	0.79586	T	-0.223797	0.17477	T	-0.310937	0.43557	T	0.221367850899696	0.21532	T	.	.	.	0.09238508	0.21672	0.11894565	0.28711	0.09238508	0.21671	0.11894565	0.28710	-3.06	0.10842	T	.	.	0.165	0.36396	B	.	.	3.539772	0.49704	22.8	0.98369607363537137	0.40729	0.90568	0.51852	D	AEFDGBI	0.325583	0.42712	N	0.263662490771709	0.54318	3.597651	0.239267195254156	0.52042	3.381772	0.999997946608554	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.1	3.86	0.43689	4.627000	0.60975	7.707000	0.66598	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.588000	0.31090	0.8507:0.1493:0.0:0.0	11.571	0.50089	882	0.29131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3156.98	34	chr5	179774000	.	A	G	3156.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.580e-01;DP=954;ExcessHet=0.0000;FS=1.008;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.67;ReadPosRankSum=-1.473e+00;SOR=0.767	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1214	20	0	1	0
chr5	179774297	179774297	C	T	exonic	MAML1	.	nonsynonymous SNV	MAML1:NM_014757:exon5:c.C2471T:p.P824L,	.	.	425	1069	25	3	0	31	0.0142923	.	.	699038	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.13	T	0.14	B	0.014	B	0.022	N	0.908	N	0	N	1.95	T	-1.050	T	0.018	T	0.06	0.567	7.063	0.661	0.225	2.609	13.527	0.042	.	0.0081	0.00379393	0.0079	0.0021	0.0049	0.0001	0.0089	0.0121	0.0079	0.0010	0.0082729	1279	154602	rs61753466	0.0099	0.0099	0.0101	0.0096	0.0139	0.0097	0.0097	0.0114	0.0112	0.0016	0.0051	0.0084	0.0019	0.0077	0.0139	0.0114	0.0089	0.0013	0.0073	0.0073	0.0079	0.0067	0.0115	0.0069	0.0068	0.0109	0.0106	0.0020	0.0077	0.0054	0.0061	0.0002	0.0091	0.0272	0.0115	0.0090	0.0010	0.016	0.51853	D	0.141	0.33442	T	0.14	0.27540	B	0.014	0.16862	B	0.021575	0.26806	N	0.360529	0.90788	0.27569	N	1.1	0.28011	L	1.95	0.22474	T	-1.56	0.37759	N	0.15	0.15328	-1.0499	0.14425	T	0.018	0.07423	T	10	0.0033201277	0.00057	T	.	.	.	0.042	0.11227	.	.	0.110392049598	0.10638	0.21418346042024294	0.21334	0.125099360097	0.14101	0.293613195419	0.09451	T	0.341973	0.71081	T	-0.620466	0.00109	T	-0.652356	0.08790	T	0.0153146781190649	0.00339	T	.	.	.	0.04226435	0.06378	0.052958187	0.08829	0.04226435	0.06377	0.052958187	0.08828	-4.249	0.27455	T	.	.	0.086	0.10594	B	.	.	2.096629	0.26672	17.20	0.8690216223610614	0.16851	0.71167	0.34897	D	AEFDBI	0.034060	0.04154	N	-0.777018038746771	0.13910	0.6887983	-0.664925945783745	0.17841	0.9504084	0.999914810423061	0.45857	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.94	0.661	0.17044	2.383000	0.44008	3.954000	0.40696	-0.136000	0.12710	1.000000	0.71638	0.997000	0.33255	0.108000	0.18652	0.6005:0.3995:0.0:0.0	13.527	0.61057	882	0.29131	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1686.98	34	chr5	179774297	.	C	T	1686.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.22;DP=898;ExcessHet=0.0000;FS=0.621;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=-4.730e-01;SOR=0.804	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1214	20	0	1	0
chr5	179794115	179794115	C	T	exonic	LTC4S	.	nonsynonymous SNV	LTC4S:NM_145867:exon1:c.C35T:p.T12I,	Leukotriene C4 synthase deficiency, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.000	U	1.000	N	2.91	M	0.48	T	-0.523	T	0.468	T	0.543	2.747	15.15	3.01	1.893	4.931	8.186	0.472	0.16382612397	7.7e-05	.	4.99e-05	0	0	0	0	3.034e-05	0	0.0002	3.88e-05	6	154602	rs140301841	3.764e-05	3.762e-05	4.63e-05	2.889e-05	0.0001	2.961e-05	2.657e-05	6.246e-05	4.757e-05	0	2.236e-05	0	0	0	0	3.777e-05	3.312e-05	0.0001	4.595e-05	4.593e-05	2.569e-05	6.712e-05	0.0004	2.107e-05	1.526e-05	7.285e-05	3.027e-05	2.405e-05	0	6.536e-05	0	0	0	0	4.41e-05	0	0.0004	0.003	0.68238	D	0.006	0.70582	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	U	0.000000	0.999992	0.58761	D	3.5	0.92762	M	0.48	0.67543	T	-4.42	0.77470	D	0.693	0.69825	-0.5229	0.67807	T	0.468	0.79460	T	10	0.76005447	0.76277	D	0.163826	0.84308	D	0.472	0.76554	.	.	0.807878985271	0.80607	0.8985896339970265	0.89830	1.15996159511	0.79446	0.797843337059	0.81634	T	0.273695	0.64615	T	-0.137871	0.30229	T	-0.176139	0.56880	T	0.944335103034973	0.62040	D	.	.	.	0.74002093	0.80293	0.591424	0.76291	0.74002093	0.80295	0.591424	0.76291	-11.943	0.84572	D	.	.	0.888	0.81946	P	.;.;.	.;.;.	4.249074	0.64477	24.7	0.99444544576724825	0.64971	0.90118	0.51047	D	AEFGBHCI	0.636648	0.61572	D	0.62828762246711	0.74972	6.224177	0.50930409756384	0.68613	5.244501	0.999999976886764	0.74766	0.495158	0.18159	0	0.616935	0.53198	0	0.536957	0.11973	0	0.662026	0.63922	0	.	.	3.9	3.01	0.33872	1.840000	0.38871	7.428000	0.58769	0.587000	0.30956	0.587000	0.27642	1.000000	0.68203	0.504000	0.29107	0.0:0.8838:0.0:0.1162	8.186	0.30502	894	0.26265	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1545.98	37	chr5	179794115	.	C	T	1545.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=859;ExcessHet=0.0000;FS=1.450;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=0.862;SOR=0.693	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr5	179904789	179904789	C	T	exonic	TBC1D9B	.	nonsynonymous SNV	TBC1D9B:NM_015043:exon2:c.G142A:p.V48M	.	.	416	1099	7	0	0	7	0.0031746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.000	D	1.000	D	2.08	M	1.91	T	-0.881	T	0.125	T	0.763	4.879	28.0	5.07	2.345	7.349	18.479	0.189	.	0.0040	0.000199681	0.0060	0.0009	0.0026	0	0.0072	0.0113	0	0.0017	0.0026002	402	154602	rs147600483	0.0037	0.0038	0.0038	0.0037	0.0043	0.0037	0.0036	0.0042	0.0041	0.0007	0.0016	0.0075	2.667e-05	0.0018	0.0014	0.0043	0.0027	0.0016	0.0029	0.0029	0.0033	0.0026	0.0046	0.0027	0.0026	0.0042	0.0040	0.0008	0.0154	0.0019	0.0089	0	0.0010	0	0.0046	0.0014	0.0015	0.032	0.44694	D	0.034	0.57104	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.3	0.65703	M	1.91	0.23283	T	-0.95	0.25332	N	0.842	0.83987	-0.8811	0.49673	T	0.125	0.43028	T	10	0.011189967	0.00246	T	.	.	.	0.189	0.46613	.	.	0.612105117874	0.60898	0.5450258155943359	0.54428	0.766097499569	0.64522	0.934345781803	0.99215	D	0.015509	0.18828	T	-0.239242	0.15447	T	-0.114096	0.62283	T	0.0327628003661285	0.02432	T	.	.	.	0.24418615	0.47364	0.19817024	0.43636	0.24418615	0.47364	0.19817024	0.43635	-4.133	0.25789	T	.	.	0.439	0.69791	A	.;.;.	.;.;.	5.012631	0.83247	28.0	0.99903034904192378	0.97426	0.98411	0.82500	D	AEFDBI	0.910557	0.86862	D	0.767553138011636	0.84044	8.178708	0.739452507182283	0.85368	8.55947	0.999999999999999	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.07	5.07	0.68106	7.454000	0.79769	7.616000	0.62106	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:1.0:0.0:0.0	18.479	0.90752	846	0.36215	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	644.98	34	chr5	179904789	.	C	T	644.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.42;DP=759;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=-1.013e+00;SOR=0.620	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1100	20	0	1	0
chr5	180574061	180574061	A	G	exonic	CNOT6	.	nonsynonymous SNV	CNOT6:NM_001370474:exon11:c.A1250G:p.H417R	.	.	427	1083	12	0	0	12	0.00550964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.004	B	0.000	D	1.000	D	0.85	L	1.59	T	-1.090	T	0.059	T	0.668	1.532	11.07	5.85	2.233	9.339	16.244	0.193	0.0208087517736	0.0015	0.000399361	0.0015	0.0004	0.0006	0	0.0003	0.0024	0	0.0002	0.0014036	217	154602	rs139424567	0.0016	0.0016	0.0015	0.0016	0.0017	0.0015	0.0015	0.0016	0.0016	0.0002	0.0012	0.0077	0	0.0006	0.0014	0.0017	0.0017	0.0001	0.0013	0.0013	0.0013	0.0013	0.0021	0.0011	0.0011	0.0018	0.0017	0.0004	0.0011	0.0008	0.0049	0	0.0008	0	0.0021	0.0014	0	0.317	0.13699	T	0.358	0.17064	T	0.0	0.02946	B	0.004	0.10090	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.15	0.29295	L	1.59	0.28836	T	-0.91	0.24460	N	0.512	0.54322	-1.0896	0.05599	T	0.059	0.24908	T	9	0.009315789	0.00210	T	0.020809	0.43476	T	0.193	0.47281	.	.	0.366659145958	0.36277	0.6712581820256988	0.67063	0.743848610129	0.63409	0.625064492226	0.56445	T	0.167827	0.51461	T	-0.311988	0.07574	T	-0.227402	0.52024	T	0.0718105833365121	0.08903	T	0.950905	0.81262	D	0.19565545	0.41362	0.23931311	0.49276	0.19565545	0.41362	0.23931311	0.49275	-6.905	0.53336	T	.	.	0.074	0.04932	B	.;.;.	.;.;.	3.162884	0.42862	21.6	0.97308835024034535	0.33318	0.99618	0.98039	D	AEFBI	0.909336	0.86584	D	0.0733820767827466	0.45224	2.782535	0.296939908556884	0.55361	3.699148	0.999999999934066	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.85	5.85	0.93663	9.325000	0.96006	9.281000	0.79714	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.244	0.82257	952	0.10565	Endonuclease/exonuclease/phosphatase|CCR4-NOT transcription complex subunit 6;Endonuclease/exonuclease/phosphatase|CCR4-NOT transcription complex subunit 6;Endonuclease/exonuclease/phosphatase|CCR4-NOT transcription complex subunit 6	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1968.98	34	chr5	180574061	.	A	G	1968.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.340e-01;DP=859;ExcessHet=0.0000;FS=1.196;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.58;ReadPosRankSum=-1.384e+00;SOR=0.591	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1281	20	0	1	0
chr5	180620641	180620641	G	A	exonic	FLT4	.	nonsynonymous SNV	FLT4:NM_001354989:exon16:c.C2374T:p.L792F	Hemangioma, capillary infantile, somatic;Lymphedema, hereditary, IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3257186	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.994	D	.	.	1.000	D	2.375	M	-1.38	T	0.323	D	0.643	D	0.524	3.664	18.62	4.28	2.397	5.378	12.800	0.550	0.284020359531	.	.	2.512e-05	0.0003	0	0	0	0	0	0	1.94e-05	3	154602	rs765728136	6.844e-06	6.84e-06	6.81e-06	6.879e-06	0.0002	3.46e-06	2.52e-06	9.752e-05	6.952e-05	0.0002	2.236e-05	0	0	0	0	0	3.312e-05	0	6.573e-05	6.567e-05	3.855e-05	9.419e-05	0.0002	3.518e-05	2.617e-05	0.0001	9.942e-05	0.0002	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.004	0.74150	D	0.998	0.90584	D	0.989	0.82059	D	.	.	.	.	0.999995	0.58761	D	2.69	0.78713	M	-1.39	0.80387	T	-3.1	0.63554	D	0.727	0.76666	0.323	0.87914	D	0.643	0.87544	D	9	0.6023356	0.66982	D	0.28402	0.90332	D	0.550	0.81369	0.419	0.46036	0.673455866971	0.67068	0.747152033019195	0.74661	1.65508607043	0.89608	0.601829528809	0.53162	T	0.554903	0.84996	D	-0.0782117	0.40005	T	-0.0706871	0.65578	T	0.688620626926422	0.40184	D	0.941606	0.78180	D	0.44399524	0.63659	0.48309603	0.70072	0.44399524	0.63660	0.48309603	0.70073	-8.527	0.64608	D	0.6301204882435237	0.69939	0.274	0.50772	B	.;.;.	.;.;.	4.972083	0.82291	27.8	0.99884642007770774	0.95970	0.94550	0.61530	D	AEFDBI	0.508654	0.53845	D	0.659630958093839	0.76993	6.58996	0.591314915418065	0.74315	6.11625	0.999898063901638	0.45129	0.646311	0.45356	0	0.578056	0.33634	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.28	4.28	0.50183	5.658000	0.67673	9.857000	0.82030	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0828:0.0:0.9172:0.0	12.800	0.56961	881	0.29269	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2075.98	33	chr5	180620641	.	G	A	2075.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.76;DP=892;ExcessHet=0.0000;FS=2.904;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=0.391;SOR=0.989	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1150	20	0	1	0
chr5	180628897	180628897	G	A	exonic	FLT4	.	nonsynonymous SNV	FLT4:NM_001354989:exon8:c.C1088T:p.P363L	Hemangioma, capillary infantile, somatic;Lymphedema, hereditary, IA, Autosomal dominant	.	1	1517	4	0	0	4	0.00131666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.038	B	0.009	B	.	.	0.925	D	0.55	N	2.74	T	-1.021	T	0.020	T	0.279	-0.260	2.753	2.89	0.516	0.725	5.311	0.019	0.00693439100208	.	.	7.722e-05	0	8.754e-05	0	0	0.0001	0	0	5.82e-05	9	154602	rs768687155	5.012e-05	5.27e-05	3.827e-05	6.209e-05	0.0010	4.074e-05	3.748e-05	0.0005	0.0003	0.0001	0.0001	0	2.522e-05	3.891e-05	0.0010	4.058e-05	0.0001	2.321e-05	4.601e-05	4.597e-05	6.424e-05	2.692e-05	6.545e-05	2.11e-05	1.527e-05	1.973e-05	1.125e-05	4.826e-05	0	6.545e-05	0	0	0	0	5.883e-05	0	0	0.084	0.33923	T	0.349	0.17910	T	0.003	0.11197	B	0.009	0.14300	B	.	.	.	.	0.925484	0.36806	D	0.995	0.25082	L	2.74	0.11730	T	-3.31	0.69950	D	0.369	0.41063	-1.0212	0.23324	T	0.020	0.08220	T	9	0.19371101	0.35152	T	0.006934	0.18345	T	0.019	0.03383	0.516	0.61611	0.043077524339	0.03247	0.7291414478860127	0.72859	0.621399424811	0.56427	0.373812913895	0.21377	T	0.521805	0.83291	D	-0.413527	0.01883	T	-0.576734	0.14838	T	0.00806759057935528	0.00096	T	0.718928	0.33194	T	0.0631857	0.13278	0.06952169	0.14658	0.0631857	0.13278	0.06952169	0.14657	-5.954	0.45892	T	0.1016238104551862	0.07633	0.087	0.11124	B	.;.;.	.;.;.	1.478909	0.19040	14.06	0.80821148914737484	0.13385	0.15148	0.18768	N	AEFDBI	0.127344	0.24466	N	-1.01860095612668	0.08217	0.384541	-0.997973613932974	0.09831	0.4913998	0.139347472738265	0.17243	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.68	2.89	0.32713	1.037000	0.29850	3.915000	0.40434	-0.123000	0.13640	0.391000	0.26096	1.000000	0.68203	0.002000	0.04165	0.1545:0.0:0.573:0.2725	5.311	0.15137	878	0.29785	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1240.98	39	chr5	180628897	.	G	A	1240.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.782;DP=1049;ExcessHet=0.0000;FS=0.754;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=-4.750e-01;SOR=0.598	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,119,1654	20	0	1	0
chr5	180630053	180630053	C	T	exonic	FLT4	.	nonsynonymous SNV	FLT4:NM_001354989:exon5:c.G566A:p.R189Q	Hemangioma, capillary infantile, somatic;Lymphedema, hereditary, IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.276	B	0.036	B	.	.	0.530	D	1.67	L	3.52	T	-1.004	T	0.014	T	0.099	2.450	14.15	-0.026	-0.011	-0.243	4.343	0.028	0.00842059716546	7.7e-05	.	1.671e-05	0	8.669e-05	0.0001	0	0	0	0	1.29e-05	2	154602	rs369974304	1.506e-05	1.505e-05	1.362e-05	1.652e-05	0.0003	9.86e-06	8.42e-06	6.092e-05	3.165e-05	8.961e-05	4.472e-05	0	0.0001	0	0.0003	8.094e-06	1.656e-05	0	1.314e-05	1.313e-05	2.569e-05	0	4.827e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.827e-05	0	0	0	0	0	0	0	0	0	0.118	0.32769	T	0.288	0.31225	T	0.014	0.29111	B	0.004	0.17743	B	.	.	.	.	0.529658	0.31964	D	1.1	0.28011	L	3.52	0.04905	T	-0.96	0.25551	N	0.14	0.21449	-1.0041	0.28725	T	0.014	0.05657	T	9	0.10126886	0.18493	T	0.008421	0.22282	T	0.028	0.06331	.	.	0.043077524339	0.03247	0.802820654888154	0.80236	0.700580670859	0.61104	0.305345386267	0.11204	T	0.17476	0.52409	T	-0.437408	0.01339	T	-0.696954	0.05994	T	0.0640385746955872	0.07789	T	0.839616	0.51418	T	0.1026287	0.24253	0.049877767	0.07714	0.1026287	0.24253	0.049877767	0.07713	-2.341	0.04784	T	0.10962745201460483	0.09174	0.065	0.04041	B	.;.;.;.	.;.;.;.	1.423083	0.18399	13.72	0.99225387793817976	0.56026	0.19707	0.20764	N	AEFDBI	0.073819	0.14778	N	-0.665614644935655	0.17008	0.8715141	-0.602831234700176	0.19420	1.041835	0.0482378625995534	0.14761	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.674467	0.66132	0	.	.	5.16	-0.0262	0.13257	-0.094000	0.11060	-2.162000	0.04122	-0.182000	0.10109	0.091000	0.22601	0.000000	0.08366	0.545000	0.30055	0.1619:0.3154:0.0:0.5227	4.343	0.10558	878	0.29785	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1650.98	36	chr5	180630053	.	C	T	1650.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.19;DP=850;ExcessHet=0.0000;FS=0.640;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=0.519;SOR=0.760	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1281	20	0	1	0
chr5	180848896	180848896	A	G	exonic	ZFP62	.	nonsynonymous SNV	ZFP62:NM_001172638:exon2:c.T2599C:p.S867P	.	.	432	1087	2	1	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	0	N	3.15	T	-0.926	T	0.008	T	0.168	-0.802	0.671	0.724	0.124	1.013	2.962	0.045	0.00714634362171	0.0004	0.000399361	0.0011	0.0005	0	0	0	0.0025	0	0.0001	0.0001876	29	154602	rs150247342	0.0004	0.0004	0.0004	0.0004	0.0070	0.0003	0.0003	0.0053	0.0047	0.0004	0.0008	0.0081	0	0	0.0070	0.0002	0.0010	0.0002	0.0005	0.0005	0.0004	0.0006	0.0010	0.0004	0.0004	0.0006	0.0005	4.815e-05	0	0.0010	0.0072	0	0	0.0034	0.0004	0.0019	0.0010	0.982	0.06980	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.875	0.01443	N	3.15	0.07820	T	2.67	0.00196	N	0.098	0.10626	-0.9265	0.44645	T	0.008	0.02968	T	9	0.0034482777	0.00061	T	0.007146	0.18951	T	0.045	0.12272	.	.	0.0666544352282	0.05500	0.09881781728387663	0.09812	.	.	0.313918143511	0.12500	T	0.001308	0.00783	T	-0.547208	0.00303	T	-0.652718	0.08764	T	0.00595230368663102	0.00065	T	0.0166483	0.00092	T	0.087598875	0.20404	0.07070439	0.15055	0.087598875	0.20404	0.07070439	0.15054	-2.073	0.03470	T	.	.	0.076	0.05935	B	.;.	.;.	0.308280	0.06837	3.363	0.79240276267877896	0.12653	0.19886	0.20833	N	AEFDGBHI	0.148121	0.27194	N	-1.17876836878003	0.05321	0.2423169	-1.1340276282714	0.07058	0.3419225	0.0116187712262719	0.12211	0.634777	0.41761	0	0.653731	0.59785	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.48	0.724	0.17389	1.003000	0.29410	1.574000	0.27434	0.756000	0.94297	0.026000	0.20160	0.297000	0.24199	0.194000	0.21720	0.6209:0.0:0.1981:0.181	2.962	0.05534	906	0.23090	.;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1243.98	33	chr5	180848896	.	A	G	1243.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.371;DP=826;ExcessHet=0.0000;FS=5.621;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.03;ReadPosRankSum=0.265;SOR=0.668	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1214	20	0	1	0
chr5	180948368	180948368	G	A	exonic	BTNL8	.	nonsynonymous SNV	BTNL8:NM_024850:exon5:c.G931A:p.G311R,	.	.	467	1051	3	1	0	5	0.00237304	.	.	2825652	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.76	T	0.0	B	0.0	B	.	.	1.000	N	.	.	4.26	T	-0.908	T	0.000	T	.	-1.824	0.009	-0.026	0.073	0.242	3.364	0.001	.	.	0.00958466	0.0001	0.0003	0	0	0	0.0001	0	0	0.001533	237	154602	rs113071395	8.453e-05	0.0032	7.679e-05	9.232e-05	0.0003	7.161e-05	6.697e-05	0.0001	9.913e-05	3.043e-05	0.0002	0	0.0003	2.117e-05	0	7.812e-05	0.0002	3.545e-05	0.0008	0.0073	0.0009	0.0008	0.0040	0.0007	0.0006	0.0025	0.0021	0.0003	0	0.0013	0.0009	0.0040	0.0001	0.0036	0.0008	0.0016	0.0015	0.125	0.27310	T	0.183	0.29153	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.26	0.02538	T	0.04	0.06488	N	0.103	0.08646	-0.9077	0.47133	T	0.000	0.00152	T	8	0.0045530796	0.00094	T	.	.	.	0.001	0.00016	0.249	0.18602	0.0920862733494	0.08535	.	.	.	.	.	.	.	.	.	.	-0.401835	0.02252	T	-0.53555	0.18737	T	0.00745027977973223	0.00086	T	0.305069	0.05837	T	.	.	.	.	.	.	.	.	-3.421	0.15340	T	.	.	0.103	0.18456	B	.	.	1.127310	0.15138	11.62	0.7249654836456455	0.09994	0.00020	0.00220	N	AEFDGI	0.015143	0.00275	N	-1.37173003669508	0.02906	0.1290276	-1.46796803984706	0.02611	0.1203939	3.47199958373269E-4	0.06626	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.48	-0.0263	0.13257	0.650000	0.24544	0.048000	0.13961	-0.319000	0.05888	0.001000	0.13787	0.001000	0.17328	0.099000	0.18236	0.7599:0.0:0.2401:0.0	3.364	0.06777	.	.	.	.	.	.	.	rs113071395	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	92.98	33	chr5	180948368	.	G	A	92.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=702;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=34.86;MQRankSum=-1.000e+00;QD=10.33;ReadPosRankSum=0.819;SOR=0.527	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1311	20	0	1	0
chr5	181059404	181059404	C	T	exonic	BTNL9	.	nonsynonymous SNV	BTNL9:NM_152547:exon11:c.C1150T:p.H384Y,	.	.	427	1068	27	0	0	27	0.0124827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.204	B	0.78	P	0.049	U	1.000	N	2.355	M	-0.33	T	-0.322	T	0.270	T	0.631	4.096	21.1	4.71	2.365	2.310	15.578	0.462	.	.	0.00379393	0.0091	0.0046	0	0	0	0.0074	0	0.0102	0.00174	269	154602	rs186444058	0.0093	0.0089	0.0093	0.0093	0.0104	0.0092	0.0091	0.0102	0.0102	0.0010	0.0047	0.0069	6.055e-05	0.0063	0.0077	0.0104	0.0071	0.0071	0.0066	0.0066	0.0069	0.0062	0.0102	0.0062	0.0061	0.0095	0.0093	0.0016	0.0033	0.0062	0.0072	0.0002	0.0073	0.0068	0.0102	0.0052	0.0056	0.0	0.91255	D	0.0	0.92824	D	0.204	0.29802	B	0.78	0.57283	P	0.049449	0.23159	U	0.217602	0.804617	0.29074	N	2.155	0.60227	M	-0.33	0.68329	T	-4.77	0.80425	D	0.491	0.52475	-0.3221	0.74363	T	0.270	0.64204	T	10	0.011678845	0.00254	T	.	.	.	0.462	0.75889	.	.	0.786551924775	0.78457	0.5107423983958618	0.50996	0.984627870661	0.73861	0.872152686119	0.92875	D	0.224	0.58830	T	-0.26595	0.12213	T	-0.146833	0.59525	T	0.0459653985849032	0.04777	T	0.925307	0.72522	D	0.790044	0.83275	0.8463283	0.91258	0.790044	0.83277	0.8463283	0.91259	-9.251	0.69299	D	.	.	0.138	0.30184	B	.	.	3.493665	0.48848	22.7	0.99665024118694867	0.78202	0.68061	0.33661	D	AEFDBHI	0.443193	0.50061	N	0.200396882495283	0.51219	3.304896	0.213521098429424	0.50598	3.250084	0.999999630721595	0.74766	0.59774	0.34471	0	0.627178	0.54094	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.71	4.71	0.59010	1.138000	0.31103	4.644000	0.44168	0.454000	0.21428	0.314000	0.25450	1.000000	0.68203	0.931000	0.46843	0.0:1.0:0.0:0.0	15.578	0.76153	.	.	SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain	.	.	.	.	rs186444058	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1917.11	48	chr5	181059404	.	C	T	1917.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.98;DP=1094;ExcessHet=0.1072;FS=3.721;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=-5.850e-01;SOR=0.731	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,108,1619	19	0	2	0
chr5	181195354	181195354	G	A	exonic	TRIM7	.	nonsynonymous SNV	TRIM7:NM_203297:exon5:c.C802T:p.R268W	.	.	432	1051	38	1	0	40	0.0186741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	1.0	D	1.0	D	0.000	D	0.941	N	1.01	L	-0.43	T	-0.703	T	0.243	T	0.444	1.514	11.01	0.698	-0.187	0.339	11.825	0.352	.	0.0036	0.0117812	0.0165	0.0014	0.0309	0.0237	0	0.0074	0.0152	0.0361	0.0080271	1241	154602	rs61751566	0.0060	0.0061	0.0052	0.0068	0.0315	0.0059	0.0058	0.0305	0.0301	0.0008	0.0167	0.0215	0.0114	0.0002	0.0147	0.0033	0.0098	0.0315	0.0052	0.0052	0.0048	0.0057	0.0321	0.0049	0.0048	0.0279	0.0264	0.0014	0.0154	0.0131	0.0170	0.0148	0.0003	0.0136	0.0031	0.0061	0.0321	0.025	0.48642	D	0.017	0.60337	D	1.0	0.90584	D	1.0	0.97372	D	0.000066	0.52346	D	0.000000	0.99971	0.20638	N	1.18	0.29980	L	-0.43	0.69657	T	-2.16	0.48850	N	0.21	0.23758	-0.7029	0.60299	T	0.243	0.61131	T	10	0.0049039125	0.00105	T	.	.	.	0.352	0.67326	.	.	.	.	0.6146241830987929	0.61394	1.70361355796	0.90347	0.636679887772	0.58093	T	0.109151	0.42279	T	-0.401669	0.02258	T	-0.325371	0.41983	T	0.0562181223179985	0.06560	T	0.884412	0.60756	D	0.0585932	0.11805	0.084190056	0.19349	0.0585932	0.11804	0.084190056	0.19349	-8.731	0.67788	D	.	.	0.349	0.65506	A	.;.;.;.	.;.;.;.	3.155350	0.42731	21.6	0.99636088301373116	0.76326	0.07290	0.13312	N	AEFDGBI	0.373871	0.45898	N	-0.626117239998297	0.18163	0.9407484	-0.817992306727555	0.14060	0.7326963	0.999906244961365	0.45458	0.554377	0.28877	0	0.588066	0.40923	0	0.596394	0.31383	0	0.567892	0.33627	0	.	.	4.79	0.698	0.17247	0.309000	0.19094	1.546000	0.27261	-1.131000	0.01456	0.000000	0.06391	0.941000	0.28781	0.074000	0.16894	0.0:0.0:0.3805:0.6195	11.825	0.51537	.	.	SPRY domain|B30.2/SPRY domain|SPRY domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1225.98	34	chr5	181195354	.	G	A	1225.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.750e+00;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.79;ReadPosRankSum=-6.000e-03;SOR=0.676	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1256	20	0	1	0
chr6	348877	348877	C	A	exonic	DUSP22	.	nonsynonymous SNV	DUSP22:NM_001286555:exon7:c.C544A:p.P182T,	.	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.871	N	.	.	.	.	-1.045	T	0.037	T	.	0.169	4.909	3.92	1.108	1.122	5.043	0.037	0.00282392653242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.06598	T	0.002	0.09854	B	0.007	0.12992	B	.	.	.	.	0.871083	0.28205	N	.	.	.	3.71	0.04046	T	.	.	.	0.354	0.39558	.	.	.	.	.	.	.	0.124480546	0.23644	T	0.002824	0.05898	T	.	.	.	.	0.270447802918	0.26645	0.26412170697039916	0.26325	.	.	.	.	.	.	.	.	-0.281886	0.10469	T	-0.642686	0.09475	T	0.0597336034027656	0.07126	T	0.477752	0.16548	T	.	.	.	.	.	.	.	.	-4.399	0.29544	T	.	.	0.063	0.02285	B	.;.;.;.	.;.;.;.	1.170479	0.15603	11.97	0.14569133352181632	0.00326	0.64127	0.32307	D	AEFBCI	0.117534	0.23021	N	-0.209564684632853	0.32740	1.849885	-0.280565782770342	0.28739	1.604705	0.999957482668174	0.48110	0.722319	0.85440	0	0.698795	0.70079	0	0.554053	0.18673	1	0.635551	0.53088	0	.	.	4.8	3.92	0.44525	1.147000	0.31213	1.119000	0.24226	0.599000	0.40250	0.963000	0.33788	0.058000	0.21979	0.001000	0.02609	0.1529:0.6203:0.1477:0.0791	5.043	0.13806	914	0.21048	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1829.98	34	chr6	348877	.	C	A	1829.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.840e-01;DP=919;ExcessHet=0.0000;FS=1.277;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.11;ReadPosRankSum=-6.700e-02;SOR=0.579	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485	20	0	1	0
chr6	656539	656539	C	A	exonic	HUS1B	.	nonsynonymous SNV	HUS1B:NM_148959:exon1:c.G406T:p.V136L,	.	.	433	1085	4	0	0	4	0.00183993	.	.	710584	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.2	T	0.945	P	0.449	P	0.000	U	0.992	N	1.455	L	2.49	T	-1.011	T	0.014	T	0.294	2.960	15.87	2.58	0.796	0.808	6.803	0.128	.	0.0081	0.0159744	0.0031	0.0372	0.0014	0	0	4.966e-05	0	0.0002	0.0029624	458	154602	rs76953401	0.0010	0.0010	0.0011	0.0009	0.0343	0.0010	0.0009	0.0326	0.0319	0.0343	0.0019	0	0	0	0.0031	4.156e-05	0.0024	0.0001	0.0095	0.0095	0.0098	0.0092	0.0331	0.0091	0.0089	0.0316	0.0310	0.0331	0	0.0031	0	0	0	0.0068	0.0001	0.0052	0	0.073	0.34800	T	0.013	0.63109	D	0.945	0.53279	P	0.449	0.46066	P	0.000005	0.62929	U	0.000000	0.991678	0.41446	D	2.11	0.58565	M	2.49	0.14531	T	-1.52	0.36980	N	0.319	0.35938	-1.0108	0.26666	T	0.014	0.05369	T	10	0.010014981	0.00224	T	.	.	.	0.128	0.35103	0.914	0.98346	0.132336055621	0.12781	0.5401032904702541	0.53935	0.310121233535	0.33327	0.462537229061	0.33659	T	0.025	0.18998	T	-0.442832	0.01245	T	-0.382414	0.35439	T	0.0621392912288291	0.07502	T	0.521348	0.16985	T	0.33209947	0.55642	0.3269332	0.58595	0.33209947	0.55642	0.3269332	0.58594	-5.336	0.40298	T	.	.	0.324	0.54818	B	.	.	1.632057	0.20835	14.93	0.95829371387382711	0.27933	0.12742	0.17453	N	AEFDBI	0.041696	0.06374	N	-0.398438018169985	0.25525	1.386219	-0.564583747814594	0.20419	1.100044	0.999384432977034	0.39415	0.241074	0.04172	3	0.546412	0.12157	0	0.55559	0.18752	1	0.714379	0.83352	0	.	.	3.46	2.58	0.30011	1.076000	0.30340	-0.239000	0.10608	0.524000	0.24156	0.238000	0.24727	0.000000	0.08366	0.120000	0.19168	0.0:0.8654:0.0:0.1346	6.803	0.22947	934	0.15400	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1238.98	39	chr6	656539	.	C	A	1238.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.230e-01;DP=1110;ExcessHet=0.0000;FS=8.281;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=-8.900e-02;SOR=1.036	GT:AD:DP:GQ:PL	0/0:101,0:101:99:0,120,1800	20	0	1	0
chr6	1313006	1313006	G	A	exonic	FOXQ1	.	nonsynonymous SNV	FOXQ1:NM_033260:exon1:c.G302A:p.G101D,	.	.	314	1191	17	0	0	17	0.00708629	.	.	2825663	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.63	T	0.561	P	0.166	B	0.939	N	1.000	N	1.1	L	0.37	T	-1.041	T	0.042	T	0.23	2.781	15.26	2.5	0.425	.	8.375	0.055	.	0.0039	0.00119808	0.0205	0.0095	0.0072	0.0008	0.0083	0.0285	0.0116	0.0163	0.0035963	556	154602	rs199626291	0.0088	0.0080	0.0089	0.0086	0.0099	0.0086	0.0086	0.0097	0.0097	0.0014	0.0023	0.0103	0.0001	0.0030	0.0022	0.0099	0.0066	0.0042	0.0051	0.0051	0.0056	0.0045	0.0087	0.0048	0.0047	0.0081	0.0079	0.0015	0	0.0014	0.0095	0	0.0033	0	0.0087	0.0043	0.0043	0.181	0.21884	T	0.199	0.27679	T	0.561	0.38362	P	0.166	0.35067	B	0.939196	0.08366	N	0.949192	0.99999	0.08975	N	0.695	0.17993	N	0.37	0.57729	T	-0.39	0.13611	N	0.194	0.21319	-1.0414	0.16890	T	0.042	0.17952	T	10	0.004980266	0.00107	T	.	.	.	0.055	0.15663	.	.	0.300784259202	0.29686	0.26413867288485793	0.26326	.	.	0.856463909149	0.90585	D	0.08505	0.37416	T	-0.490179	0.00648	T	-0.47232	0.25267	T	0.00629917079943835	0.00070	T	0.279272	0.04852	T	0.041404124	0.06089	0.10650694	0.25625	0.041404124	0.06089	0.10650694	0.25624	-7.799	0.59692	D	.	.	0.128	0.27373	B	.	.	2.417411	0.31083	18.63	0.99637282409545935	0.76449	0.19537	0.20699	N	AEFBCI	0.044780	0.07248	N	-0.801798800985491	0.13264	0.6522096	-0.873670911872064	0.12720	0.655933	0.999999922865585	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	3.38	2.5	0.29355	2.253000	0.42859	2.496000	0.33006	-0.439000	0.05178	0.021000	0.19753	0.973000	0.29867	0.018000	0.11154	0.1253:0.0:0.8747:0.0	8.375	0.31598	966	0.07191	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1405.98	44	chr6	1313006	.	G	A	1405.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.370e-01;DP=937;ExcessHet=0.0000;FS=2.136;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.45;ReadPosRankSum=1.10;SOR=0.446	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1351	20	0	1	0
chr6	1313711	1313711	C	G	exonic	FOXQ1	.	nonsynonymous SNV	FOXQ1:NM_033260:exon1:c.C1007G:p.A336G,	.	.	490	1008	24	0	0	24	0.0117647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.664	P	0.098	B	0.772	U	1.000	N	0.345	N	-3.22	D	-0.594	T	0.343	T	0.076	0.889	8.612	2.65	1.700	-0.394	5.155	0.210	0.545049963259	.	.	0	.	.	.	.	.	.	.	4.53e-05	7	154602	rs771606516	0.0014	0.0010	0.0012	0.0015	0.0293	0.0013	0.0013	0.0272	0.0264	0.0002	0.0003	0.0139	0	0	0.0084	0.0006	0.0038	0.0293	0.0019	0.0018	0.0015	0.0023	0.0216	0.0017	0.0016	0.0182	0.0170	4.871e-05	0	0.0032	0.0124	0.0004	0	0.0068	0.0011	0.0019	0.0216	0.039	0.42487	D	0.052	0.47581	T	0.664	0.41009	P	0.098	0.30479	B	0.771926	0.09541	U	0.860006	1	0.08975	N	1.355	0.33814	L	-3.22	0.93352	D	-0.92	0.24676	N	0.056	0.02759	-0.5942	0.65052	T	0.343	0.70883	T	10	0.009075165	0.00205	T	0.54505	0.95781	D	0.210	0.50028	.	.	0.406806705197	0.40296	0.17205183428388818	0.17125	.	.	0.875367939472	0.93327	D	0.054964	0.29873	T	-0.384017	0.02938	T	-0.369942	0.36894	T	0.0942056721455589	0.11707	T	0.374863	0.08927	T	0.107452996	0.25410	0.1326974	0.31837	0.107452996	0.25409	0.1326974	0.31836	-3.852	0.21584	T	.	.	0.065	0.01934	B	.	.	2.226126	0.28416	17.79	0.96389220747806925	0.29647	0.45734	0.27604	N	AEFDGBHCI	0.056347	0.10411	N	-0.68829208733001	0.16353	0.832473	-0.760589752317266	0.15462	0.8133447	0.999999999996442	0.74766	0.59774	0.34471	0	0.657636	0.61667	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.55	2.65	0.30588	-0.323000	0.08039	0.838000	0.22015	0.242000	0.18252	0.000000	0.06391	0.001000	0.17328	0.024000	0.12247	0.0:0.7369:0.0:0.2631	5.155	0.14357	966	0.07191	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	144.99	10	chr6	1313711	.	C	G	144.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.842;DP=478;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0251;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.71;ReadPosRankSum=-1.006e+00;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485	20	0	1	0
chr6	1390638	1390638	C	G	exonic	FOXF2	.	nonsynonymous SNV	FOXF2:NM_001452:exon1:c.C691G:p.P231A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.057	B	0.016	B	0.004	N	1.000	D	0.345	N	-3.13	D	-0.610	T	0.345	T	0.377	1.145	9.666	3.23	0.852	0.738	10.791	0.260	0.794244701218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.012e-07	6.84e-07	1.395e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.689e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.16958	T	0.385	0.15746	T	0.057	0.22878	B	0.016	0.17743	B	0.003726	0.34560	N	0.245308	0.999979	0.53665	D	0.695	0.17993	N	-3.13	0.92829	D	-1.08	0.28084	N	0.098	0.07949	-0.6101	0.64399	T	0.345	0.71036	T	10	0.17284608	0.32079	T	0.794245	0.98387	D	0.260	0.57221	0.263	0.20788	0.811403763096	0.80963	0.2732483774347499	0.27237	.	.	0.800435781479	0.82028	T	0.078298	0.35858	T	0.0617617	0.59834	T	-0.14906	0.59327	T	0.151635482907295	0.17233	T	0.522748	0.17058	T	0.070475005	0.15526	0.11865105	0.28640	0.070475005	0.15526	0.11865105	0.28640	-3.443	0.15642	T	.	.	0.051	0.00191	B	.;.	.;.	2.477681	0.31942	18.89	0.93731456039564554	0.23661	0.28731	0.23633	N	AEFDGBHCI	0.229309	0.35285	N	-0.597463634763856	0.19022	0.9922822	-0.481266319945269	0.22671	1.232491	0.999999999999903	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.1	3.23	0.36150	0.891000	0.27944	2.540000	0.33211	0.583000	0.30283	0.042000	0.21073	0.989000	0.31174	0.993000	0.69303	0.0:0.9044:0.0:0.0955	10.791	0.45635	963	0.08280	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	843.98	44	chr6	1390638	.	C	G	843.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.232;DP=824;ExcessHet=0.0000;FS=1.980;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.56;ReadPosRankSum=0.017;SOR=0.432	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1002	20	0	1	0
chr6	1390759	1390759	A	G	exonic	FOXF2	.	nonsynonymous SNV	FOXF2:NM_001452:exon1:c.A812G:p.H271R,	.	.	80	1440	2	0	0	2	0.000693963	.	.	3198536	FOXF2-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.66	T	0.956	P	0.549	P	0.045	N	1.000	D	0.805	L	-3.19	D	-0.018	T	0.535	D	0.515	3.677	18.69	4.46	1.643	3.719	12.594	0.403	0.858769294601	.	.	0.0047	0	0	0	0	0	0	0.0068	0.0001746	27	154602	rs570065652	0.0004	0.0004	0.0002	0.0006	0.0072	0.0004	0.0003	0.0066	0.0064	0	0	0	6.737e-05	0	0.0002	3.42e-05	0.0007	0.0072	0.0002	0.0002	0.0002	0.0003	0.0064	0.0002	0.0001	0.0047	0.0041	0	0	6.54e-05	0	0.0002	0	0	0	0.0005	0.0064	0.125	0.27310	T	0.298	0.20486	T	0.956	0.54666	P	0.549	0.49194	P	0.045037	0.23578	N	0.390052	0.999999	0.58761	D	1.7	0.43825	L	-3.19	0.93170	D	-1.35	0.33598	N	0.296	0.33469	-0.0184	0.81872	T	0.535	0.82781	D	10	0.007617146	0.00173	T	0.858769	0.98915	D	0.403	0.71636	0.287	0.24601	0.893934440895	0.89288	0.5254794846978055	0.52471	.	.	0.919796466827	0.98308	D	0.114524	0.43240	T	-0.198118	0.21076	T	-0.0576409	0.66497	T	0.143841052905572	0.16601	T	0.523848	0.17156	T	0.20929164	0.43192	0.23373395	0.48571	0.20929164	0.43192	0.23373395	0.48570	-9.841	0.72954	D	.	.	0.328	0.55046	B	.;.	.;.	3.814273	0.55040	23.6	0.99187962129827001	0.54877	0.95353	0.64390	D	AEFDGBHCI	0.604492	0.59557	D	0.153478311587817	0.48976	3.103378	0.209756926138186	0.50387	3.231391	0.999999999999999	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	4.46	4.46	0.53567	1.854000	0.39008	7.296000	0.58072	0.748000	0.86766	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	12.594	0.55810	963	0.08280	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1104.98	44	chr6	1390759	.	A	G	1104.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.79;DP=833;ExcessHet=0.0000;FS=0.846;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.17;ReadPosRankSum=0.855;SOR=0.588	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1002	20	0	1	0
chr6	1611907	1611912	GCGGCG	-	exonic	FOXC1	.	nonframeshift deletion	FOXC1:NM_001453:exon1:c.1462_1467del:p.A494_A495del,	Anterior segment dysgenesis 3, multiple subtypes, Autosomal dominant;Axenfeld-Rieger syndrome, type 3, Autosomal dominant	.	0	223	3	0	0	3	0.00668151	.	.	585646	not_provided|Axenfeld-Rieger_syndrome_type_3	MedGen:C3661900|MONDO:MONDO:0011233,MedGen:C2678503,OMIM:602482,Orphanet:782	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0	0	0	0	0.0033	0	0.0026	0.0002781	43	154602	rs771540524	0.0004	0.0004	0.0003	0.0005	0.0035	0.0004	0.0004	0.0023	0.0020	0	0.0004	0.0019	2.8e-05	0	0.0035	0.0003	0.0006	0.0021	0.0004	0.0004	0.0003	0.0004	0.0026	0.0003	0.0003	0.0014	0.0011	5.273e-05	0	0.0005	0.0009	0	0	0.0049	0.0005	0.0005	0.0026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3396.07	35	chr6	1611906	.	CGCGGCG	C	3396.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.976;DP=968;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=20.83;ReadPosRankSum=0.469;SOR=0.743	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	19	0	2	0
chr6	3283750	3283750	A	G	exonic	SLC22A23	.	nonsynonymous SNV	SLC22A23:NM_001382319:exon7:c.T914C:p.L305P	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	N	.	.	-0.16	T	-0.949	T	0.082	T	0.193	-0.250	2.799	-0.379	-0.095	-0.259	1.165	0.066	.	.	0.00459265	0.0051	0	0	0.0532	0.0263	0.0012	0.0034	0.0014	0.0017852	276	154602	rs117244747	0.0008	0.0008	0.0008	0.0008	0.0141	0.0007	0.0007	0.0131	0.0127	0	2.391e-05	0.0014	0.0141	0.0067	0.0005	0.0001	0.0008	0.0007	0.0013	0.0013	0.0008	0.0017	0.0186	0.0011	0.0011	0.0156	0.0145	0	0	0	0.0023	0.0186	0.0060	0	0.0003	0	0.0008	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.16	0.65378	T	2.55	0.00222	N	.	.	-0.9491	0.41126	T	0.082	0.32266	T	6	0.0031453967	0.00053	T	.	.	.	0.066	0.19193	.	.	0.276065633971	0.27208	.	.	.	.	.	.	.	0.007665	0.07062	T	-0.479664	0.00743	T	-0.444861	0.28265	T	0.0111278282191306	0.00162	T	0.177782	0.01744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.21277	B	.	.	0.098946	0.05008	1.563	0.24618250988495474	0.01097	0.00022	0.00232	N	AEFDGBI	0.010658	0.00080	N	-0.922755362135499	0.10310	0.4921226	-1.11942258719798	0.07329	0.3561005	0.999616044074012	0.40981	0.460665	0.09802	0	0.550933	0.16991	0	0.575934	0.27490	0	0.727631	0.95156	0	.	.	2.71	-0.379	0.11871	-0.251000	0.08837	-0.259000	0.10442	-0.784000	0.03305	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.1434:0.2248:0.4022:0.2296	1.165	0.01702	878	0.29785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	631.98	34	chr6	3283750	.	A	G	631.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.238e+00;DP=739;ExcessHet=0.0000;FS=1.087;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=0.160;SOR=0.961	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,103,1155	20	0	1	0
chr6	3456196	3456196	C	T	exonic	SLC22A23	.	nonsynonymous SNV	SLC22A23:NM_001286456:exon1:c.G364A:p.D122N	.	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.907	P	0.346	B	.	.	1.000	D	1.04	L	1.31	T	-1.108	T	0.042	T	0.119	2.979	15.93	3.75	1.776	5.126	15.501	0.093	0.0462096969245	0.0009	0.000599042	0.0027	0	0	0	0	0.0020	0	0.0043	0.0003816	59	154602	rs199852691	0.0007	0.0007	0.0007	0.0008	0.0042	0.0007	0.0007	0.0038	0.0037	3.165e-05	5.602e-05	0.0034	0	0.0002	0.0004	0.0005	0.0006	0.0042	0.0005	0.0005	0.0004	0.0005	0.0029	0.0004	0.0003	0.0018	0.0014	2.408e-05	0	0	0.0029	0	0	0	0.0007	0.0005	0.0029	0.103	0.30097	T	0.206	0.27056	T	0.907	0.50062	P	0.346	0.42645	B	.	.	.	.	0.954506	0.37880	D	1.5	0.37844	L	1.31	0.35405	T	-0.48	0.16799	N	0.294	0.35194	-1.1082	0.03229	T	0.042	0.18160	T	9	0.010188043	0.00228	T	0.04621	0.62348	D	0.093	0.26882	.	.	0.27132560031	0.26736	0.6332780545648596	0.63261	0.634900973074	0.57326	0.536317050457	0.43925	T	0.025438	0.19020	T	-0.531055	0.00379	T	-0.535607	0.18730	T	0.04536036204078	0.04668	T	0.940673	0.77758	D	0.21892568	0.44412	0.20329362	0.44399	0.21892568	0.44412	0.20329362	0.44398	-6.494	0.50240	T	.	.	0.195	0.60405	B	.;.;.	.;.;.	3.339448	0.46013	22.2	0.99465723597409961	0.66049	0.87320	0.46823	D	AEFDBHCI	0.731341	0.67844	D	0.175837615664678	0.50039	3.198011	0.21319278230638	0.50580	3.248435	0.999999999998356	0.74766	0.766844	0.99359	0	0.609123	0.50646	0	0.851219	0.99655	0	0.56751	0.32155	0	.	.	3.75	3.75	0.42236	5.134000	0.64611	5.797000	0.49910	0.543000	0.25316	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	15.501	0.75434	958	0.09170	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1355.98	34	chr6	3456196	.	C	T	1355.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.132e+00;DP=865;ExcessHet=0.0000;FS=5.271;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.04;ReadPosRankSum=-6.150e-01;SOR=0.855	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1278	20	0	1	0
chr6	4032374	4032374	G	A	exonic	PRPF4B	.	nonsynonymous SNV	PRPF4B:NM_003913:exon2:c.G857A:p.R286H,	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.988	D	0.52	P	0.000	D	1.000	D	1.245	L	-0.44	T	-0.663	T	0.216	T	0.501	2.865	15.54	5.9	2.788	5.837	20.279	0.177	.	0.0018	0.000998403	0.0040	0.0002	0.0003	0.0023	0.0174	0.0049	0.0100	0.0001	0.0033311	515	154602	rs45509297	0.0028	0.0028	0.0027	0.0029	0.0026	0.0028	0.0027	0.0025	0.0025	8.961e-05	0.0003	0.0052	0.0009	0.0165	0.0003	0.0026	0.0022	0.0001	0.0033	0.0033	0.0026	0.0042	0.0040	0.0031	0.0030	0.0036	0.0034	0.0001	0	0.0002	0.0049	0.0023	0.0188	0	0.0040	0.0009	0.0004	0.002	0.72154	D	0.117	0.36365	T	0.988	0.62325	D	0.52	0.48197	P	0.000005	0.62929	D	0.000000	0.999783	0.49076	D	1.59	0.40313	L	-0.44	0.69777	T	-0.97	0.25770	N	0.278	0.31478	-0.6626	0.62161	T	0.216	0.57732	T	10	0.006115675	0.00138	T	.	.	.	0.177	0.44549	.	.	0.587019249841	0.58375	0.0039168402482609044	0.00366	0.881774026821	0.69799	0.524154186249	0.42212	T	0.044904	0.26958	T	-0.2849	0.10154	T	-0.175901	0.56901	T	0.0499941572531356	0.05499	T	0.945505	0.79230	D	0.13211302	0.30773	0.131003	0.31465	0.13211302	0.30773	0.131003	0.31464	-6.57	0.50823	T	.	.	0.158	0.34992	B	.	.	4.024187	0.59457	24.1	0.99930672251191555	0.99334	0.98727	0.86082	D	AEFBI	0.740606	0.68480	D	0.426179049560821	0.62865	4.509797	0.443718479225165	0.64315	4.683828	0.999999999962352	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	5.313000	0.65584	11.898000	0.99275	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.841000	0.39698	0.0:0.0:1.0:0.0	20.279	0.98503	510	0.75209	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	726.98	38	chr6	4032374	.	G	A	726.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.678;DP=857;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.44;ReadPosRankSum=-3.520e-01;SOR=0.781	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	20	0	1	0
chr6	4069571	4069571	A	G	exonic	FAM217A	.	nonsynonymous SNV	FAM217A:NM_173563:exon7:c.T652C:p.Y218H,	.	.	.	.	.	.	.	.	.	.	.	3256330	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	0.013	B	0.016	B	0.000	D	0.994	N	1.935	M	1.87	T	-1.093	T	0.033	T	0.327	0.918	8.739	5.31	2.234	2.823	11.586	0.050	0.00415247694856	.	.	8.247e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs778469858	2.189e-05	2.189e-05	1.361e-05	3.026e-05	0.0003	1.584e-05	1.356e-05	6.094e-05	2.522e-05	2.99e-05	0	0	0	0	0.0003	2.248e-05	3.312e-05	2.32e-05	6.569e-05	6.567e-05	6.423e-05	6.723e-05	0.0001	3.516e-05	2.616e-05	5.841e-05	4.238e-05	0	0	0.0001	0	0	0	0	0.0001	0	0	0.107	0.29554	T	0.005	0.72224	D	0.013	0.16609	B	0.016	0.17743	B	0.000286	0.46274	D	0.147560	0.993622	0.23678	N	2.175	0.60977	M	1.87	0.24085	T	-1.6	0.38540	N	0.282	0.31925	-1.0933	0.05005	T	0.033	0.13986	T	10	0.18628287	0.34086	T	0.004152	0.09963	T	0.050	0.13987	.	.	0.28492961333	0.28089	0.20079382852743052	0.19996	0.0388524479143	0.04135	0.420142918825	0.27855	T	0.038861	0.24988	T	-0.305857	0.08118	T	-0.491215	0.23263	T	0.0855963734484687	0.10687	T	0.577142	0.20757	T	0.07570345	0.17072	0.095219634	0.22572	0.07570345	0.17071	0.095219634	0.22572	-3.505	0.16501	T	.	.	0.141	0.32945	B	.;.	.;.	2.515310	0.32491	19.06	0.97746318049431169	0.35714	0.85094	0.44199	D	AEDGI	0.557464	0.56708	D	-0.121827735473787	0.36442	2.106571	-0.0127097399122566	0.39139	2.316201	0.99999482533293	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.31	5.31	0.75063	2.803000	0.47620	7.729000	0.67687	-0.041000	0.17446	0.965000	0.33920	1.000000	0.68203	0.390000	0.26558	1.0:0.0:0.0:0.0	11.586	0.50176	634	0.64659	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2743.98	37	chr6	4069571	.	A	G	2743.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.601;DP=1049;ExcessHet=0.0000;FS=1.065;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.13;ReadPosRankSum=-1.490e-01;SOR=0.677	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	20	0	1	0
chr6	4099092	4099092	C	A	exonic	C6orf201	.	nonsynonymous SNV	C6orf201:NM_001085401:exon3:c.C178A:p.P60T,	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.879	P	0.399	B	0.953	N	1.000	N	0.975	L	1.26	T	-1.043	T	0.029	T	0.212	2.496	14.31	0.801	0.325	0.260	3.308	0.026	0.00953462386185	0.0003	0.000599042	0.0002	0	0.0004	0	0	0.0003	0	0.0003	0.0002199	34	154602	rs200932959	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0002	0.0006	0.0004	5.974e-05	0.0003	0	0	3.744e-05	0.0012	0.0002	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	2.409e-05	0	0.0003	0	0	0	0	0.0003	0.0005	0.0004	0.073	0.34800	T	0.0	0.92824	D	0.879	0.48338	P	0.399	0.44455	B	0.953418	0.08272	N	0.973510	1	0.08975	N	1.2	0.30300	L	1.26	0.36330	T	-5.17	0.83489	D	0.33	0.37093	-1.0432	0.16354	T	0.029	0.12541	T	10	0.052610695	0.05321	T	0.009535	0.24947	T	0.026	0.05648	.	.	0.188950314367	0.18478	0.2666764266578253	0.26580	0.339956898807	0.35944	.	.	.	0.031319	0.21988	T	-0.450482	0.01122	T	-0.578886	0.14644	T	0.143790796399117	0.16597	T	0.712529	0.32403	T	0.0916935	0.21493	0.15363383	0.36093	0.0916935	0.21493	0.15363383	0.36092	-3.282	0.13506	T	.	.	0.191	0.41031	B	.	.	0.321944	0.06964	3.514	0.99152508573345788	0.53848	0.02524	0.07029	N	AEFI	0.046813	0.07816	N	-0.648771507567459	0.17496	0.9008111	-0.782844452092113	0.14915	0.781853	3.01741604098929E-4	0.06454	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.02	0.801	0.17822	0.262000	0.18229	-0.099000	0.11964	-0.217000	0.08171	0.000000	0.06391	0.000000	0.08366	0.062000	0.16114	0.1685:0.4108:0.3279:0.0928	3.308	0.06593	735	0.53711	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	963.98	40	chr6	4099092	.	C	A	963.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.400e-01;DP=782;ExcessHet=0.0000;FS=5.467;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.83;ReadPosRankSum=-1.679e+00;SOR=1.194	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr6	6318558	6318558	A	C	exonic	F13A1	.	nonsynonymous SNV	F13A1:NM_000129:exon2:c.T107G:p.V36G,	Factor XIIIA deficiency, Autosomal recessive	.	5	1516	1	0	0	1	0.000329707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.343	B	0.086	B	0.264	N	0.987	D	0.55	N	-2.18	D	-0.836	T	0.251	T	0.434	0.727	7.867	2.24	0.297	1.611	6.994	0.022	0.0441201192041	.	.	8.239e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs752589234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.573e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.377	0.20002	T	0.472	0.12176	T	.	.	.	.	.	.	0.264180	0.03729	N	1.513960	0.987008	0.40520	D	.	.	.	-2.18	0.86722	D	-0.42	0.34397	N	0.343	0.38438	-0.8360	0.52911	T	0.251	0.62061	T	10	0.51120746	0.62107	D	0.04412	0.61328	D	0.293	0.61272	0.719	0.85408	0.565612946506	0.56225	0.5973971835976073	0.59670	0.315469477035	0.33826	0.334423363209	0.15601	T	0.032192	0.22378	T	0.0253228	0.55098	T	-0.201402	0.54513	T	0.0736743761387657	0.09157	T	0.506149	0.16021	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.41962	B	.;.;.	.;.;.	0.953291	0.13297	9.797	0.96087464379585696	0.28674	0.61228	0.31424	D	AEFDBI	0.323817	0.42590	N	-0.809771320134144	0.13059	0.640783	-0.755256463799931	0.15593	0.8208847	0.999974786444924	0.50053	0.615465	0.37627	0	0.633656	0.55848	0	0.298653	0.05632	1	0.542086	0.14980	0	.	.	4.64	2.24	0.27264	1.770000	0.38162	1.460000	0.26674	-0.064000	0.16601	0.897000	0.31356	0.140000	0.23083	0.026000	0.12556	0.815:0.0:0.185:0.0	6.994	0.23951	975	0.05339	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1411.98	34	chr6	6318558	.	A	C	1411.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=833;ExcessHet=0.0000;FS=0.662;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.30;ReadPosRankSum=0.588;SOR=0.787	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1123	20	0	1	0
chr6	6625004	6625004	T	G	exonic	LY86	.	nonsynonymous SNV	LY86:NM_004271:exon2:c.T215G:p.I72S,	.	.	537	980	5	0	0	5	0.00254453	.	.	3449329	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.956	P	0.947	D	0.690	N	1.000	N	1.59	L	0.96	T	-1.006	T	0.124	T	0.583	3.072	16.25	4.08	1.993	1.373	9.043	0.213	0.0220517237883	0.0005	0.000199681	0.0011	0.0003	0.0007	0	0.0005	0.0016	0.0078	0.0009	0.0006339	98	154602	rs142377958	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0008	0.0007	0	7.538e-05	4.055e-05	0	0.0009	0	0.0002	0.0005	0.0010	0.0003	0.0003	0.0002	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	4.81e-05	0	0.0002	0	0.0002	0.0011	0	0.0003	0	0.0004	0.013	0.53900	D	0.004	0.74150	D	0.956	0.54666	P	0.947	0.68407	D	0.690052	0.10184	N	0.856006	0.999963	0.18878	N	2.015	0.55033	M	0.96	0.42888	T	-2.43	0.53258	N	0.604	0.62188	-1.0062	0.28095	T	0.124	0.42694	T	10	0.15228179	0.28767	T	0.022052	0.44897	T	0.213	0.50496	.	.	0.597897742083	0.59469	0.7460244882594081	0.74548	0.055780197225	0.06166	0.416569828987	0.27366	T	0.549036	0.84697	D	-0.349318	0.04771	T	-0.324989	0.42026	T	0.0519274303869505	0.05834	T	0.745725	0.36599	T	0.52061373	0.68294	0.2633731	0.52142	0.52061373	0.68295	0.2633731	0.52141	-4.293	0.28079	T	.	.	0.807	0.77631	P	.;.	.;.	4.520772	0.70884	25.6	0.99357756041688616	0.60862	0.29554	0.23852	N	AEBIJ	0.208364	0.33445	N	0.226450668191904	0.52485	3.422264	0.135614723311456	0.46385	2.885278	0.754531296989716	0.23412	0.732398	0.92422	0	0.743671	0.97443	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.26	4.08	0.46880	1.558000	0.35917	4.991000	0.46528	0.665000	0.62972	0.321000	0.25511	0.999000	0.35428	0.996000	0.76049	0.0:0.0872:0.0:0.9128	9.043	0.35489	968	0.07033	MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain;MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	722.98	56	chr6	6625004	.	T	G	722.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.596e+00;DP=742;ExcessHet=0.0000;FS=1.052;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=2.64;SOR=0.527	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1078	20	0	1	0
chr6	7211646	7211646	A	G	exonic	RREB1	.	nonsynonymous SNV	RREB1:NM_001003698:exon8:c.A644G:p.K215R	.	.	.	.	.	.	.	.	.	.	.	2292271	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.997	D	0.000	D	1.000	D	1.82	L	1.34	T	-0.878	T	0.154	T	0.659	4.867	27.8	6.06	2.324	5.078	15.592	0.257	0.0127810009798	.	.	4.119e-05	0	0.0003	0	0.0002	1.499e-05	0	0	3.23e-05	5	154602	rs766602318	2.394e-05	2.394e-05	3.131e-05	1.65e-05	8.944e-05	1.739e-05	1.539e-05	2.985e-05	1.804e-05	0	8.944e-05	0	0	0.0001	0	2.069e-05	1.656e-05	1.159e-05	2.628e-05	2.627e-05	1.285e-05	4.034e-05	6.545e-05	8.14e-06	5.14e-06	.	.	0	0	6.545e-05	0	0	0.0002	0	1.47e-05	0	0	0.009	0.57480	D	0.043	0.51737	D	0.999	0.90584	D	0.997	0.86255	D	0.000005	0.62929	D	0.000000	0.999867	0.50061	D	1.175	0.29870	L	1.34	0.34841	T	-1.52	0.41809	N	0.277	0.33578	-0.8782	0.49903	T	0.154	0.48360	T	10	0.30320936	0.47854	T	0.012781	0.31649	T	0.257	0.56827	.	.	0.495218516369	0.49155	0.5403113294878913	0.53956	1.06211407058	0.76517	0.662581086159	0.61778	T	0.054176	0.29650	T	-0.137527	0.30285	T	-0.209623	0.53732	T	0.415588706731796	0.29526	T	0.875712	0.58780	D	0.12440244	0.29188	0.21887265	0.46605	0.12440244	0.29188	0.21887265	0.46604	-4.708	0.33501	T	.	.	0.121	0.26294	B	.;.;.;.;.	.;.;.;.;.	4.987919	0.82676	27.8	0.99902410085642956	0.97426	0.95491	0.64932	D	AEFBI	0.588461	0.58572	D	0.717854452219402	0.80802	7.375891	0.72654441246886	0.84395	8.279716	0.999994747120494	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.06	6.06	0.98340	5.246000	0.65232	9.294000	0.79816	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.592	0.76282	748	0.52143	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1108.98	35	chr6	7211646	.	A	G	1108.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.258;DP=887;ExcessHet=0.0000;FS=7.128;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.40;ReadPosRankSum=1.44;SOR=1.090	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,105,1575	20	0	1	0
chr6	7231434	7231436	CCA	-	exonic	RREB1	.	nonframeshift deletion	RREB1:NM_001003698:exon10:c.3335_3337del:p.T1114del	.	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0.0003	0	0	0.0002	0	0.0002	0.00011	17	154602	rs769732144	0.0001	0.0001	0.0001	0.0001	0.0014	8.924e-05	8.408e-05	0.0007	0.0005	5.977e-05	0.0005	0	0	1.903e-05	0.0014	7.286e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0004	0.0003	2.412e-05	0	0.0007	0	0	0	0.0068	0.0002	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2686.94	69	chr6	7231433	.	GCCA	G	2686.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.999;DP=1379;ExcessHet=0.0000;FS=1.248;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.22;ReadPosRankSum=-7.940e-01;SOR=0.810	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	20	0	1	0
chr6	7365515	7365515	C	A	exonic	CAGE1	.	nonsynonymous SNV	CAGE1:NM_205864:exon7:c.G1657T:p.A553S	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.908	P	0.436	B	0.694	N	1.000	N	1.5	L	1.49	T	-1.071	T	0.026	T	0.123	0.643	7.451	2.31	0.694	0.072	7.964	0.039	0.0075526838159	.	0.000399361	0.0001	0	0	0	0	0	0	0.0011	0.0001294	20	154602	rs527881100	6.365e-05	6.362e-05	2.724e-05	0.0001	0.0011	5.297e-05	4.913e-05	0.0009	0.0008	0	0	0	0	0	0.0002	0	0	0.0011	1.97e-05	1.968e-05	1.285e-05	2.685e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	0	0	0.0006	0.412	0.10083	T	0.483	0.15650	T	0.793	0.50127	P	0.23	0.45556	B	0.693897	0.10152	N	0.848615	0.999998	0.08975	N	1.845	0.48678	L	1.48	0.32958	T	-0.6	0.19509	N	0.215	0.24010	-1.0705	0.09304	T	0.026	0.10998	T	10	0.01879567	0.00412	T	0.007553	0.20033	T	0.039	0.10176	0.247	0.18293	0.44143026662	0.43763	0.026230130015365994	0.02573	0.115032915398	0.12980	0.295571029186	0.09743	T	0.005549	0.05002	T	-0.565865	0.00234	T	-0.636043	0.09960	T	0.898453414440155	0.55056	D	0.525647	0.17278	T	0.06425408	0.13612	0.056419894	0.10077	0.06425408	0.13612	0.056419894	0.10077	-2.822	0.09084	T	.	.	0.101	0.23005	B	.;.;.;.;.	.;.;.;.;.	1.704220	0.21705	15.31	0.97763723976704586	0.35826	0.09117	0.14936	N	AEFBI	0.079368	0.16030	N	-0.366808966739811	0.26658	1.456635	-0.379924480784323	0.25596	1.408581	2.1828604620346E-5	0.03498	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.5	2.31	0.27816	0.071000	0.14461	0.056000	0.14067	0.599000	0.40250	0.110000	0.22992	0.087000	0.22477	0.195000	0.21750	0.0:0.7029:0.0:0.2971	7.964	0.29248	686	0.59327	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	628.98	33	chr6	7365515	.	C	A	628.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.526;DP=756;ExcessHet=0.0000;FS=1.069;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=-1.503e+00;SOR=0.483	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1305	20	0	1	0
chr6	7405275	7405275	G	A	exonic	RIOK1	.	nonsynonymous SNV	RIOK1:NM_001348194:exon12:c.G811A:p.V271I	.	.	425	1094	3	0	0	3	0.00136924	.	.	3409317	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.24	T	0.767	P	0.549	P	0.000	N	1.000	D	1.41	L	3.32	T	-0.926	T	0.013	T	0.163	3.847	19.54	4.5	1.266	7.221	13.123	0.071	0.0144562593385	0.0055	0.00279553	0.0045	0.0019	0.0046	0	0.0035	0.0066	0.0011	0.0008	0.0046765	723	154602	rs56067778	0.0062	0.0062	0.0064	0.0059	0.0072	0.0061	0.0060	0.0071	0.0070	0.0013	0.0050	0.0068	0	0.0029	0.0026	0.0072	0.0050	0.0009	0.0044	0.0044	0.0047	0.0041	0.0070	0.0041	0.0040	0.0065	0.0063	0.0015	0	0.0056	0.0035	0	0.0019	0.0034	0.0070	0.0047	0.0008	0.036	0.43393	D	0.094	0.39645	T	0.767	0.43786	P	0.549	0.49194	P	0.000015	0.62929	N	0.113199	1	0.81001	D	1.255	0.31814	L	3.32	0.06214	T	-0.97	0.25770	N	0.282	0.31925	-0.9263	0.44673	T	0.013	0.05129	T	10	0.010382742	0.00231	T	0.014456	0.34591	T	0.071	0.20720	.	.	0.36453787251	0.36064	0.4071093323463725	0.40626	0.204602031451	0.22881	0.373666852713	0.21357	T	0.009266	0.08447	T	-0.517773	0.00453	T	-0.509699	0.21346	T	0.0348122710622711	0.02776	T	0.861414	0.55526	D	0.2554301	0.48577	0.1448719	0.34379	0.2554301	0.48577	0.1448719	0.34378	-8.541	0.64700	D	.	.	0.125	0.26388	B	.	.	4.211540	0.63633	24.6	0.99646313535507269	0.77005	0.99075	0.90859	D	AEFDBI	0.761235	0.69901	D	0.263892365592409	0.54329	3.598792	0.286121978011405	0.54728	3.636977	0.999966677685168	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.37	4.5	0.54382	7.387000	0.79051	9.758000	0.81499	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.889000	0.42754	0.0771:0.0:0.9229:0.0	13.123	0.58752	663	0.61610	RIO kinase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	804.98	34	chr6	7405275	.	G	A	804.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.483e+00;DP=764;ExcessHet=0.0000;FS=1.023;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.88;ReadPosRankSum=-4.110e-01;SOR=0.685	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr6	7411419	7411419	G	C	exonic	RIOK1	.	nonsynonymous SNV	RIOK1:NM_001348194:exon14:c.G1045C:p.E349Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.898	P	0.352	B	0.000	D	1.000	D	0	N	3.34	T	-0.753	T	0.007	T	0.514	4.428	23.5	5.62	2.648	8.682	18.632	0.225	0.032129703999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.283	0.21478	T	0.898	0.49442	P	0.352	0.42883	B	0.000001	0.62929	D	0.096591	1	0.81001	D	0.145	0.08828	N	3.34	0.06063	T	-0.87	0.23590	N	0.338	0.37923	-0.7535	0.57752	T	0.007	0.02478	T	10	0.21544152	0.38097	T	0.03213	0.54036	D	0.225	0.52323	0.335	0.32329	0.388812400583	0.38497	0.3162422768940247	0.31537	0.230302317014	0.25578	0.527692854404	0.42709	T	0.013255	0.11500	T	-0.0972108	0.36887	T	-0.377413	0.36026	T	0.585103784492092	0.35815	D	0.855114	0.54241	D	0.1738056	0.38149	0.18711801	0.41924	0.1738056	0.38149	0.18711801	0.41923	-4.263	0.27655	T	.	.	0.130	0.27939	B	.	.	4.028609	0.59550	24.1	0.99713077346358581	0.81493	0.99847	0.99816	D	AEFBI	0.866036	0.78533	D	0.345006990906183	0.58475	4.020116	0.477039224821321	0.66470	4.956473	0.999999422754696	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	8.892000	0.92141	9.689000	0.81268	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.632	0.91319	664	0.61548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1333	104.37	43	chr6	7411419	.	G	C	104.37	.	AC=4;AF=0.133;AN=30;BaseQRankSum=-3.187e+00;DP=1695;ExcessHet=0.6776;FS=158.280;InbreedingCoeff=-0.2215;MLEAC=5;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.29;ReadPosRankSum=0.406;SOR=10.867	GT:AD:DP:GQ:PL	0/1:58,20:78:14:14,0,1013	11	0	4	6
chr6	7414350	7414350	G	A	exonic	RIOK1	.	nonsynonymous SNV	RIOK1:NM_001348194:exon16:c.G1244A:p.R415H	.	.	430	1039	50	3	0	56	0.0262418	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.001	B	0.001	B	0.594	N	1.000	N	-0.345	N	3.33	T	-0.914	T	0.003	T	0.107	2.018	12.71	-3.49	-0.569	-0.383	11.651	0.039	.	0.0076	0.0061901	0.0086	0.0016	0.0034	0.0001	0.0116	0.0094	0.0122	0.0165	0.0081241	1256	154602	rs56160149	0.0100	0.0100	0.0097	0.0102	0.0193	0.0098	0.0098	0.0185	0.0182	0.0015	0.0037	0.0044	5.043e-05	0.0103	0.0186	0.0102	0.0097	0.0193	0.0075	0.0075	0.0071	0.0078	0.0185	0.0071	0.0070	0.0154	0.0142	0.0020	0	0.0043	0.0049	0.0002	0.0127	0.0204	0.0106	0.0100	0.0185	0.266	0.16251	T	0.256	0.23298	T	0.001	0.07471	B	0.001	0.04355	B	0.593928	0.05607	N	1.421560	1	0.08975	N	0.34	0.10450	N	3.33	0.06138	T	-1.85	0.43334	N	0.101	0.08366	-0.9141	0.46338	T	0.003	0.00994	T	10	0.0030825436	0.00051	T	.	.	.	0.039	0.10176	.	.	0.139678290688	0.13603	0.028634318525073733	0.02813	0.216403637423	0.24162	0.187236070633	0.00180	T	0.018689	0.15024	T	-0.704744	0.00034	T	-0.770812	0.02741	T	0.010509738622555	0.00146	T	0.531747	0.17685	T	0.017672015	0.00293	0.028782748	0.01148	0.017672015	0.00293	0.028782748	0.01148	-4.241	0.27341	T	.	.	0.055	0.00375	B	.	.	-0.388696	0.02254	0.232	0.83854462349201608	0.14957	0.01415	0.04780	N	AEFBI	0.031459	0.03370	N	-1.21082851355945	0.04841	0.2193715	-1.21036202125596	0.05743	0.2744785	0.943901780032789	0.27591	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	-3.49	0.04424	-0.244000	0.08921	-1.164000	0.06144	-0.899000	0.02337	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.7541:0.0:0.2459:0.0	11.651	0.50548	668	0.61153	.	BMP6	Brain_Nucleus_accumbens_basal_ganglia	.	.	rs56160149	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1914.98	37	chr6	7414350	.	G	A	1914.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.287e+00;DP=824;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.20;ReadPosRankSum=1.12;SOR=0.667	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1223	20	0	1	0
chr6	7581408	7581408	G	A	exonic	DSP	.	nonsynonymous SNV	DSP:NM_004415:exon23:c.G5218A:p.E1740K,	Arrhythmogenic right ventricular dysplasia 8, Autosomal dominant;Cardiomyopathy, dilated, with woolly hair and keratoderma, Autosomal recessive;Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, Autosomal dominant;Epidermolysis bullosa, lethal acantholytic, Autosomal recessive;Keratosis palmoplantaris striata II;Skin fragility-woolly hair syndrome, Autosomal recessive	.	0	1503	19	0	0	19	0.00628099	.	.	54093	Migraine|Primary_dilated_cardiomyopathy|Hemiplegia|Lethal_acantholytic_epidermolysis_bullosa|Arrhythmogenic_right_ventricular_dysplasia_8|Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma|Long_QT_syndrome|DSP-related_disorder|Cardiomyopathy|Woolly_hair-skin_fragility_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy|not_provided|Cardiovascular_phenotype|not_specified	Human_Phenotype_Ontology:HP:0002076,Human_Phenotype_Ontology:HP:0007194,MONDO:MONDO:0005277,MedGen:C0149931|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|Human_Phenotype_Ontology:HP:0002301,MONDO:MONDO:0001170,MedGen:C0018991|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|.|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247|MedGen:C3661900|MedGen:CN230736|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.39	T	0.962	D	0.173	B	0.000	D	1.000	D	1.1	L	-0.85	T	-0.875	T	0.140	T	0.729	1.687	11.60	5.09	1.496	3.140	17.082	0.307	0.0332187332085	0.0009	0.000399361	0.0012	0	0.0020	0	0.0003	0.0016	0.0022	0.0009	0.0012872	199	154602	rs142885240	0.0016	0.0016	0.0016	0.0016	0.0173	0.0015	0.0015	0.0146	0.0136	0.0004	0.0026	0.0013	0	0.0002	0.0173	0.0017	0.0016	0.0009	0.0010	0.0010	0.0010	0.0009	0.0023	0.0008	0.0008	0.0017	0.0015	0.0003	0	0.0023	0	0	9.42e-05	0.0170	0.0013	0	0.0004	0.025	0.47320	D	0.129	0.34837	T	0.962	0.55554	D	0.173	0.35463	B	0.000161	0.49130	D	0.087662	1	0.81001	D	1.39	0.34934	L	-0.85	0.74371	T	-1.58	0.38151	N	0.713	0.71587	-0.8752	0.50135	T	0.140	0.45997	T	10	0.08162171	0.13382	T	0.033219	0.54826	D	0.307	0.62838	.	.	0.76800127124	0.76587	0.27073512233209274	0.26986	0.339590473193	0.35905	0.54276496172	0.44836	T	0.284778	0.65756	T	-0.183567	0.23206	T	-0.041384	0.67607	D	0.0342431260818645	0.02679	T	0.854215	0.54045	D	0.14379038	0.33033	0.15472127	0.36300	0.15775715	0.35529	0.17242497	0.39495	-4.402	0.29585	T	0.5266939957757211	0.59815	0.093	0.14108	B	.	.	3.094430	0.41680	21.4	0.99783584082301591	0.87043	0.93839	0.59340	D	AEFDGBHI	0.452454	0.50600	N	-0.0809282533132905	0.38228	2.235856	-0.0719631655036133	0.36554	2.128813	0.999999997193261	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.530356	0.10902	0	.	.	5.98	5.09	0.68647	3.213000	0.50855	5.828000	0.50139	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.153000	0.20410	0.0:0.1268:0.8732:0.0	17.082	0.86476	384	0.83545	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	6741.98	45	chr6	7581408	.	G	A	6741.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=1488;ExcessHet=0.0000;FS=0.522;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=1.43;SOR=0.756	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1575	20	0	1	0
chr6	7581514	7581514	G	T	exonic	DSP	.	nonsynonymous SNV	DSP:NM_004415:exon23:c.G5324T:p.R1775I,	Arrhythmogenic right ventricular dysplasia 8, Autosomal dominant;Cardiomyopathy, dilated, with woolly hair and keratoderma, Autosomal recessive;Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, Autosomal dominant;Epidermolysis bullosa, lethal acantholytic, Autosomal recessive;Keratosis palmoplantaris striata II;Skin fragility-woolly hair syndrome, Autosomal recessive	.	0	1514	8	0	0	8	0.00263505	.	.	171103	not_specified|not_provided|Cardiomyopathy|Woolly_hair-skin_fragility_syndrome|Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma|Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis|Lethal_acantholytic_epidermolysis_bullosa|Keratosis_palmoplantaris_striata_2|Arrhythmogenic_right_ventricular_dysplasia_8|Arrhythmogenic_right_ventricular_cardiomyopathy	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282|MONDO:MONDO:0014355,MedGen:C4014393,OMIM:615821,Orphanet:476096,Orphanet:65282|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687|MONDO:MONDO:0013034,MedGen:C1852127,OMIM:612908|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.18	T	0.93	P	0.459	P	0.000	D	1.000	D	0.805	L	-0.68	T	-0.877	T	0.128	T	0.788	2.431	14.09	5.15	1.561	5.301	7.382	0.492	0.0299023579842	7.7e-05	0.000199681	8.338e-05	0	0	0	0	3.028e-05	0	0.0005	7.76e-05	12	154602	rs34738426	5.952e-05	5.951e-05	4.084e-05	7.838e-05	0.0030	4.883e-05	4.561e-05	0.0019	0.0015	0	0	0	0	0	0.0030	3.058e-05	0.0002	0.0003	2.628e-05	2.627e-05	2.569e-05	2.69e-05	0.0004	8.14e-06	5.14e-06	7.285e-05	3.027e-05	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0.0004	0.005	0.63226	D	0.015	0.61642	D	0.93	0.51791	P	0.459	0.46380	P	0.000048	0.53742	D	0.079858	0.999983	0.81001	D	0.55	0.14455	N	-0.68	0.72568	T	-3.99	0.73893	D	0.429	0.46835	-0.8771	0.49989	T	0.128	0.43585	T	10	0.1629838	0.30531	T	0.029902	0.52319	D	0.492	0.77847	.	.	0.898947328051	0.89794	0.3105791730785751	0.30970	0.678622393429	0.59893	0.511270344257	0.40400	T	0.489828	0.81488	T	-0.0438867	0.45371	T	0.00515999	0.70670	D	0.214133379870934	0.21167	T	0.956004	0.83260	D	0.21801612	0.44299	0.20350137	0.44430	0.20951912	0.43221	0.21497515	0.46068	-6.674	0.51614	T	0.15091182289247002	0.17763	0.224	0.45544	B	.	.	4.297185	0.65585	24.9	0.98218536105045307	0.39281	0.96765	0.70819	D	AEFDGBHIJ	0.854311	0.77133	D	0.346671514695878	0.58564	4.029397	0.434678438096115	0.63740	4.613804	0.999999998944917	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.530356	0.10902	0	.	.	6.02	5.15	0.70287	4.554000	0.60470	9.936000	0.82619	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.273:0.0:0.727:0.0	7.382	0.26035	384	0.83545	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	5312.98	45	chr6	7581514	.	G	T	5312.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.575e+00;DP=1371;ExcessHet=0.0000;FS=1.119;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=-2.450e-01;SOR=0.582	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1575	20	0	1	0
chr6	7585844	7585844	C	-	exonic	DSP	.	frameshift deletion	DSP:NM_001008844:exon24:c.6785delC:p.Y2263Tfs*21	Arrhythmogenic right ventricular dysplasia 8, Autosomal dominant;Cardiomyopathy, dilated, with woolly hair and keratoderma, Autosomal recessive;Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, Autosomal dominant;Epidermolysis bullosa, lethal acantholytic, Autosomal recessive;Keratosis palmoplantaris striata II;Skin fragility-woolly hair syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	635307	Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma|Arrhythmogenic_right_ventricular_dysplasia_8	MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.52e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs765683790	4.105e-06	4.104e-06	2.723e-06	5.501e-06	4.639e-05	1.48e-06	9.7e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	8.993e-07	1.656e-05	4.639e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	5017.94	45	chr6	7585843	.	TC	T	5017.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.191e+00;DP=1713;ExcessHet=0.0000;FS=8.016;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.17;ReadPosRankSum=0.201;SOR=0.428	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	20	0	1	0
chr6	7601437	7601439	GAG	-	exonic	SNRNP48	.	nonframeshift deletion	SNRNP48:NM_152551:exon5:c.508_510del:p.E171del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0002	0	0	0.0024	0	1.501e-05	0	0	0.0001682	26	154602	rs377281502	4.82e-05	5.062e-05	4.932e-05	4.706e-05	0.0015	3.885e-05	3.563e-05	0.0012	0.0011	0	0	0	0.0015	0	0	9.008e-07	0.0001	3.573e-05	9.848e-05	9.842e-05	7.71e-05	0.0001	0.0025	6.002e-05	4.876e-05	0.0015	0.0012	0	0	0	0	0.0025	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1670.94	35	chr6	7601436	.	TGAG	T	1670.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.941;DP=816;ExcessHet=0.0000;FS=0.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.79;ReadPosRankSum=1.07;SOR=0.572	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1358	20	0	1	0
chr6	7884463	7884463	G	A	exonic	TXNDC5	.	nonsynonymous SNV	TXNDC5:NM_001145549:exon9:c.C748T:p.P250S	.	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.625	H	2.98	T	-0.738	T	0.123	T	0.68	5.371	34	5.75	2.708	9.599	19.956	0.487	0.057530713738	0.0011	0.00119808	0.0014	0.0003	0.0014	0.0001	0	0.0015	0.0044	0.0033	0.001313	203	154602	rs145581599	0.0012	0.0012	0.0011	0.0013	0.0035	0.0012	0.0012	0.0032	0.0030	0.0004	0.0014	0.0003	0	0.0001	0.0023	0.0012	0.0014	0.0035	0.0010	0.0010	0.0010	0.0009	0.0021	0.0008	0.0008	0.0013	0.0012	0.0002	0	0.0010	0	0	0.0003	0	0.0015	0.0028	0.0021	0.002	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.54	0.93167	H	2.98	0.09356	T	-7.93	0.96269	D	0.77	0.77978	-0.7381	0.58550	T	0.123	0.42568	T	10	0.06943762	0.09962	T	0.057531	0.66999	D	0.487	0.77528	.	.	0.555555669293	0.55214	0.8847110339835254	0.88439	0.579568942759	0.53817	0.64976388216	0.59952	T	0.207223	0.56680	T	-0.24587	0.14610	T	-0.129002	0.61057	T	0.131375010629649	0.15508	T	0.974802	0.91047	D	0.93448746	0.94689	0.9444512	0.98055	0.93448746	0.94689	0.9444512	0.98056	-10.472	0.76686	D	.	.	0.188	0.40554	B	.;.	.;.	4.440321	0.68930	25.3	0.99924892887805561	0.98980	0.99169	0.92246	D	AEFDBHCI	0.951245	0.96562	D	1.06866649090253	0.97510	16.25106	0.997961138214935	0.98588	18.71651	1.0	0.98316	0.645754	0.44609	0	0.702456	0.74545	0	0.702456	0.68683	0	0.723	0.93126	0	.	.	5.75	5.75	0.90390	9.734000	0.98032	11.736000	0.95093	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	19.956	0.97222	766	0.49742	Thioredoxin domain|Thioredoxin, conserved site|Thioredoxin domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2030.98	33	chr6	7884463	.	G	A	2030.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.794e+00;DP=846;ExcessHet=0.0000;FS=1.966;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=0.792;SOR=0.861	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr6	7910640	7910640	-	CCG	exonic	TXNDC5	.	nonframeshift insertion	TXNDC5:NM_030810:exon1:c.136_137insCGG:p.A46_D47insA,	.	.	395	1069	37	2	19	60	0.018816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2496.04	37	chr6	7910637	.	TCCG	T,TCCGCCG	2496.04	.	AC=1,1;AF=0.024,0.024;AN=42;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;QD=29.72;SOR=1.054	GT:AD:DP:GQ:PL	0/0:33,0,0:33:99:0,99,1127,99,1127,1127	20	0	0	0
chr6	7910699	7910701	CAG	-	exonic	TXNDC5	.	nonframeshift deletion	TXNDC5:NM_030810:exon1:c.76_78del:p.L26del,	.	.	407	1088	27	0	0	27	0.012256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0212	0.0172	0	.	.	0	0	0.0417	6.5e-06	1	154602	rs775841007	0.0006	0.0059	0.0005	0.0008	0.0063	0.0006	0.0006	0.0044	0.0038	0.0007	0.0063	0.0012	0.0022	0.0033	0.0014	0.0005	0.0008	0.0023	2.708e-05	0.0002	2.641e-05	2.778e-05	6.034e-05	8.33e-06	5.27e-06	2.008e-05	1.148e-05	0	0	0	0	0	0	0	6.034e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	89.68	19	chr6	7910698	.	CCAG	C	89.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.53;DP=625;ExcessHet=0.3300;FS=1.982;InbreedingCoeff=-0.0761;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=3.45;ReadPosRankSum=1.27;SOR=1.292	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	3	0
chr6	10529036	10529036	C	T	exonic	GCNT2	.	nonsynonymous SNV	GCNT2:NM_001374747:exon1:c.C125T:p.A42V	Adult i phenotype without cataract, Autosomal dominant;Cataract 13 with adult i phenotype, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.048	B	0.062	B	0.085	N	1.000	N	0.895	L	2.95	T	-0.960	T	0.009	T	0.582	2.857	15.52	1.64	0.272	-0.092	5.605	0.093	0.00466600282128	.	.	4.12e-05	0	0	0	0	7.492e-05	0	0	3.23e-05	5	154602	rs202087994	8.893e-06	8.893e-06	5.445e-06	1.238e-05	0.0002	4.96e-06	3.82e-06	2.194e-05	1.43e-05	0	2.236e-05	0	0	0	0.0002	4.497e-06	1.656e-05	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.17857	T	0.048	0.22112	B	0.062	0.26930	B	0.084687	0.02391	N	1.839040	1	0.08975	N	0.805	0.20218	L	2.95	0.09635	T	-1.55	0.37566	N	0.103	0.08646	-0.9603	0.39124	T	0.009	0.03096	T	10	0.048434287	0.04295	T	0.004666	0.11566	T	0.093	0.26882	.	.	0.107399877778	0.10242	0.39929158493672473	0.39844	0.0142716862042	0.01358	.	.	.	0.024353	0.18420	T	-0.225443	0.17256	T	-0.431158	0.29803	T	0.122751161456108	0.14697	T	.	.	.	0.20663416	0.42844	0.123994924	0.29893	0.20663416	0.42844	0.123994924	0.29892	-3.912	0.22482	T	.	.	0.093	0.14201	B	.;.	.;.	1.556073	0.19936	14.51	0.96955877766923815	0.31759	0.07590	0.13600	N	AEFGBHCI	0.133961	0.25380	N	-0.750208917994129	0.14628	0.7302463	-0.725475358198361	0.16328	0.8632002	0.999998488630554	0.74766	0.40479	0.06251	1	0.484254	0.07192	0	0.547309	0.15389	0	0.665054	0.64577	0	.	.	5.43	1.64	0.22949	-0.169000	0.09900	-0.108000	0.11862	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.928000	0.46473	0.0:0.4978:0.2694:0.2328	5.605	0.16655	861	0.33516	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1173.98	99	chr6	10529036	.	C	T	1173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.750e-01;DP=828;ExcessHet=0.0000;FS=0.758;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=-9.600e-01;SOR=0.842	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr6	10529216	10529216	C	G	exonic	GCNT2	.	nonsynonymous SNV	GCNT2:NM_001374747:exon1:c.C305G:p.T102S	Adult i phenotype without cataract, Autosomal dominant;Cataract 13 with adult i phenotype, Autosomal recessive	.	0	1493	29	0	0	29	0.00961857	.	.	1171476	GCNT2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.12	T	0.11	B	0.292	B	0.758	N	0.999	N	2.09	M	2.85	T	-0.920	T	0.025	T	0.57	1.019	9.162	3.32	1.305	2.421	12.774	0.181	.	0.0083	0.00658946	0.0099	0.0013	0.0072	0	0.0033	0.0110	0.0099	0.0205	0.0093207	1441	154602	rs77616261	0.0095	0.0095	0.0092	0.0098	0.0191	0.0094	0.0093	0.0183	0.0180	0.0014	0.0070	0.0280	2.519e-05	0.0032	0.0180	0.0092	0.0100	0.0191	0.0079	0.0079	0.0078	0.0080	0.0176	0.0075	0.0074	0.0146	0.0135	0.0020	0.0340	0.0082	0.0265	0	0.0030	0.0170	0.0106	0.0137	0.0176	.	.	.	0.018	0.59732	D	0.11	0.26188	B	0.292	0.40739	B	0.758074	0.06524	N	1.117870	1	0.21543	N	2.74	0.80084	M	2.85	0.10578	T	-2.43	0.53258	N	0.5	0.53269	-0.9203	0.45513	T	0.025	0.10598	T	10	0.0067899227	0.00154	T	.	.	.	0.181	0.45247	0.723	0.85761	0.37479162749	0.37093	0.3805399115838995	0.37968	0.0459134574599	0.04987	.	.	.	0.049076	0.28203	T	-0.450994	0.01115	T	-0.405662	0.32727	T	0.0398304975897855	0.03660	T	.	.	.	0.71189314	0.78711	0.4726102	0.69427	0.6698231	0.76425	0.4726102	0.69427	-6.369	0.49267	T	.	.	0.222	0.45273	B	.;.	.;.	2.312349	0.29604	18.17	0.96069347130115357	0.28617	0.78773	0.38916	D	AEFDGBCI	.	.	.	-0.217469215596355	0.32416	1.827961	-0.213000551556974	0.31068	1.754866	0.999999972095965	0.74766	0.554377	0.28877	0	0.484254	0.07192	0	0.602189	0.34648	0	0.665054	0.64577	0	.	.	5.43	3.32	0.37134	2.632000	0.46177	0.317000	0.17144	0.599000	0.40250	0.962000	0.33725	0.004000	0.18990	0.712000	0.34516	0.0:0.8408:0.0:0.1592	12.774	0.56814	856	0.34373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1769.98	92	chr6	10529216	.	C	G	1769.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.80;DP=1007;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=-6.600e-02;SOR=0.698	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr6	10529666	10529666	C	G	exonic	GCNT2	.	nonsynonymous SNV	GCNT2:NM_001374747:exon1:c.C755G:p.T252S	Adult i phenotype without cataract, Autosomal dominant;Cataract 13 with adult i phenotype, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.001	B	0.004	B	0.893	N	1.000	N	0.185	N	3.07	T	-0.934	T	0.004	T	0.409	-1.194	0.076	0.403	0.330	0.079	13.825	0.060	0.00652515274642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.951	0.02610	T	0.001	0.07471	B	0.004	0.10090	B	0.893187	0.08672	N	0.951422	1	0.20447	N	0.485	0.13215	N	3.07	0.08547	T	-0.58	0.17417	N	0.067	0.03956	-0.9340	0.43545	T	0.004	0.01400	T	10	0.048454374	0.04299	T	0.006525	0.17186	T	0.060	0.17295	0.336	0.32491	0.194818534648	0.19098	0.2530740185115203	0.25221	0.0141364147279	0.01346	.	.	.	0.002878	0.02278	T	-0.226189	0.17155	T	-0.562682	0.16125	T	0.0236435923725367	0.01101	T	.	.	.	0.24652538	0.47622	0.11316231	0.27308	0.24652538	0.47622	0.11316231	0.27307	-2.862	0.08769	T	.	.	0.073	0.04806	B	.;.	.;.	0.720382	0.10892	7.566	0.62962044084073843	0.07098	0.06188	0.12173	N	ALL	.	.	.	-1.22153949386916	0.04689	0.2121393	-1.16116086566126	0.06569	0.3166597	0.999999997513051	0.74766	0.615465	0.37627	0	0.484254	0.07192	0	0.658983	0.55881	0	0.563494	0.21769	0	.	.	5.7	0.403	0.15569	-0.030000	0.12257	0.012000	0.13456	-0.227000	0.07798	0.000000	0.06391	0.000000	0.08366	0.794000	0.37478	0.0:0.6264:0.3096:0.064	13.825	0.62839	846	0.36215	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.03571	55.0	113	chr6	10529666	.	C	G	55.0	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-5.026e+00;DP=2018;ExcessHet=0.0000;FS=160.935;InbreedingCoeff=-0.1200;MLEAC=1;MLEAF=0.036;MQ=60.00;MQRankSum=0.00;QD=0.32;ReadPosRankSum=2.15;SOR=7.864	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	13	0	1	7
chr6	10556940	10556940	A	G	exonic	GCNT2	.	nonsynonymous SNV	GCNT2:NM_001491:exon1:c.A517G:p.R173G,	Adult i phenotype without cataract, Autosomal dominant;Cataract 13 with adult i phenotype, Autosomal recessive	.	0	1516	6	0	0	6	0.00197498	.	.	305328	Blood_group,_I_system|Cataract_13_with_adult_I_phenotype	MedGen:C0020717,OMIM:110800|MONDO:MONDO:0007289,MedGen:C3805373,OMIM:116700,Orphanet:91492	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.03	D	0.03	B	0.062	B	.	.	0.939	D	1.87	L	2.69	T	-1.087	T	0.019	T	0.63	1.243	10.04	2.5	0.293	0.993	12.201	0.187	.	.	0.00539137	0.0035	9.612e-05	0.0003	0	0	2.999e-05	0.0011	0.0252	0.003053	472	154602	rs560637463	0.0015	0.0015	0.0009	0.0022	0.0248	0.0015	0.0015	0.0239	0.0236	2.988e-05	0	0	0	0	0.0012	2.878e-05	0.0013	0.0248	0.0008	0.0008	0.0003	0.0013	0.0241	0.0007	0.0006	0.0205	0.0192	2.406e-05	0	0	0	0.0004	0	0	2.94e-05	0	0.0241	.	.	.	0.01	0.65728	D	.	.	.	.	.	.	.	.	.	.	0.939042	0.37247	D	.	.	.	2.69	0.12268	T	-4.5	0.78135	D	0.463	0.49965	-1.0875	0.05960	T	0.019	0.07986	T	9	0.012804747	0.00274	T	.	.	.	0.187	0.46274	0.69	0.82748	0.266843984389	0.26308	.	.	.	.	.	.	.	.	.	.	-0.42084	0.01689	T	-0.357687	0.38321	T	0.0363826579036718	0.03047	T	.	.	.	.	.	.	.	.	.	.	.	-6.937	0.53573	T	.	.	0.108	0.20313	B	.;.	.;.	1.337800	0.17438	13.16	0.97793505495766664	0.36014	0.26160	0.22912	N	AEFDGBHCI	0.292291	0.40320	N	-0.598362174627201	0.18994	0.9906598	-0.621975636967352	0.18929	1.013396	0.999999451664711	0.74766	0.441713	0.08003	0	0.446627	0.06534	0	0.52208	0.10781	0	0.650387	0.60102	1	.	.	5.05	2.5	0.29355	0.755000	0.26070	2.691000	0.34088	0.756000	0.94297	0.092000	0.22623	0.003000	0.18671	0.840000	0.39645	0.5904:0.4096:0.0:0.0	12.201	0.53633	813	0.42397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1416.98	36	chr6	10556940	.	A	G	1416.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.440e+00;DP=864;ExcessHet=0.0000;FS=2.242;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.65;ReadPosRankSum=-4.010e-01;SOR=0.939	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1231	20	0	1	0
chr6	10751156	10751156	G	T	exonic	TMEM14B	.	nonsynonymous SNV	TMEM14B:NM_001286484:exon3:c.G91T:p.G31W	.	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	3.91	H	-1.07	T	0.718	D	0.718	D	0.9	2.604	14.67	4.01	2.236	7.238	16.255	0.728	.	0.0048	0.00279553	0.0045	0.0010	0.0021	0	0.0198	0.0052	0.0110	0.0011	0.004379	677	154602	rs17849403	0.0062	0.0062	0.0064	0.0060	0.0068	0.0061	0.0061	0.0066	0.0066	0.0007	0.0021	0.0007	0	0.0185	0.0005	0.0068	0.0048	0.0015	0.0054	0.0054	0.0050	0.0058	0.0063	0.0051	0.0050	0.0058	0.0056	0.0015	0.0429	0.0027	0.0009	0	0.0220	0	0.0063	0.0057	0.0010	0.01	0.61437	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-1.07	0.76948	T	-7.52	0.95102	D	0.968	0.97856	0.718	0.93399	D	0.718	0.90313	D	10	0.020669937	0.00480	T	.	.	.	0.728	0.90457	.	.	0.751625969435	0.74937	0.4273341070267722	0.42650	0.359737723146	0.37668	0.767693281174	0.77079	T	0.44492	0.78814	T	0.067588	0.60554	T	0.328454	0.89443	D	0.0993654558932391	0.12287	T	0.946905	0.94867	D	0.5453247	0.69695	0.40319312	0.64781	0.5453247	0.69696	0.40319312	0.64781	-14.354	0.94150	D	.	.	0.669	0.71685	P	.;.;.;.	.;.;.;.	4.580107	0.72349	25.8	0.9922834938039391	0.56120	0.96071	0.67401	D	AEFDBI	0.907224	0.86097	D	0.656309409784636	0.76777	6.549597	0.44517961316312	0.64409	4.695291	0.999999999982787	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.01	4.01	0.45821	7.646000	0.82603	8.557000	0.77551	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:0.0:1.0:0.0	16.255	0.82340	862	0.33134	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025	752.33	34	chr6	10751156	.	G	T	752.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-9.390e-01;DP=751;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=9.90;ReadPosRankSum=-8.770e-01;SOR=0.659	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1262	19	0	1	1
chr6	10791688	10791688	C	A	exonic	MAK	.	nonsynonymous SNV	MAK:NM_001377262:exon9:c.G1201T:p.D401Y	Retinitis pigmentosa 62, Autosomal recessive	YES	1	1518	3	0	0	3	0.000987167	.	.	831362	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.897	P	0.392	B	0.651	N	1.000	D	2.005	M	-0.8	T	-0.327	T	0.319	T	0.481	1.539	11.10	5.14	2.545	4.999	17.166	0.325	0.161696620619	.	0.000798722	0.0003	0	0	0	0.0003	0.0002	0	0.0010	0.0002587	40	154602	rs201502742	0.0002	0.0002	0.0001	0.0002	0.0006	0.0002	0.0001	0.0005	0.0004	0	6.72e-05	0	0	0.0003	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	3.856e-05	0.0002	0.0015	6.511e-05	5.322e-05	0.0007	0.0005	4.815e-05	0	0	0	0	0	0	0.0001	0	0.0015	0.001	0.78490	D	0.002	0.79402	D	0.897	0.49385	P	0.392	0.44215	B	0.650605	0.10516	N	0.855233	0.83138	0.81001	D	2.045	0.56016	M	-0.85	0.74371	T	-3.09	0.64363	D	0.358	0.39962	-0.3269	0.74225	T	0.319	0.68874	T	10	0.03055188	0.01183	T	0.161697	0.84144	D	0.325	0.64725	0.157	0.06070	0.848898762086	0.84745	0.21707828334580942	0.21623	0.529928466693	0.50547	0.314718008041	0.12621	T	0.132122	0.46201	T	-0.201637	0.20570	T	-0.159821	0.58368	T	0.190983681268227	0.19902	T	0.925907	0.72722	D	0.34108397	0.56366	0.36486036	0.61845	0.31011426	0.53796	0.36878636	0.62161	-4.405	0.29625	T	0.21653405689925576	0.29128	0.104	0.29339	B	.;.;.;.;.	.;.;.;.;.	4.170037	0.62695	24.5	0.9661503212514837	0.30459	0.98633	0.84938	D	AEFBI	0.505559	0.53665	D	0.341637559722135	0.58299	4.001384	0.313156959774708	0.56312	3.794397	0.999954861430024	0.48110	0.522611	0.21652	0	0.54472	0.11627	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.14	5.14	0.70008	5.094000	0.64357	5.864000	0.50463	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	17.166	0.86696	819	0.41190	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	890.98	39	chr6	10791688	.	C	A	890.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.430e-01;DP=767;ExcessHet=0.0000;FS=1.956;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=0.975;SOR=0.483	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1059	20	0	1	0
chr6	11201012	11201012	A	G	exonic	NEDD9	.	nonsynonymous SNV	NEDD9:NM_182966:exon3:c.T494C:p.L165S,	.	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.005	B	0.004	B	.	.	1.000	N	.	.	-0.11	T	-0.985	T	0.069	T	0.095	1.978	12.57	0.451	-0.003	0.310	6.437	0.131	0.0171478446116	.	0.000998403	0.0002	0.0003	0	0	0	0	0.0011	0.0013	0.0002005	31	154602	rs144344656	6.362e-05	6.43e-05	3.948e-05	8.8e-05	0.0008	5.294e-05	4.911e-05	0.0007	0.0006	8.961e-05	0	0	0	0	0	8.993e-06	0.0001	0.0008	4.595e-05	4.593e-05	3.854e-05	5.369e-05	0.0006	2.107e-05	1.526e-05	0.0002	8.989e-05	9.62e-05	0	0	0	0	0	0	0	0	0.0006	0.0	0.91255	D	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.20864	N	.	.	.	-0.11	0.64445	T	1.85	0.00483	N	0.18	0.19459	-0.9845	0.33951	T	0.069	0.28113	T	8	0.009632796	0.00217	T	0.017148	0.38730	T	0.131	0.35738	.	.	0.477794650704	0.47409	.	.	.	.	.	.	.	.	.	.	-0.467942	0.00876	T	-0.495384	0.22827	T	0.069080175510577	0.08522	T	0.30087	0.05647	T	.	.	.	.	.	.	.	.	-3.222	0.12751	T	.	.	0.088	0.11797	B	.	.	0.776869	0.11468	8.073	0.94708112552544721	0.25368	0.02803	0.07526	N	AEFDBCI	0.027134	0.02161	N	-0.838706537655214	0.12329	0.6003141	-0.90364673652113	0.12008	0.6152142	0.999998789907843	0.74766	0.50284	0.20314	0	0.577304	0.33150	0	0.547309	0.15389	0	0.654926	0.60358	0	.	.	4.42	0.451	0.15841	0.300000	0.18911	-0.018000	0.12964	0.756000	0.94297	0.007000	0.17678	0.000000	0.08366	0.101000	0.18331	0.663:0.0:0.337:0.0	6.437	0.21029	808	0.43318	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2165.98	34	chr6	11201012	.	A	G	2165.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=860;ExcessHet=0.0000;FS=0.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.25;ReadPosRankSum=-6.410e-01;SOR=0.638	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1481	20	0	1	0
chr6	12123165	12123165	A	G	exonic	HIVEP1	.	nonsynonymous SNV	HIVEP1:NM_002114:exon4:c.A3370G:p.I1124V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.008	N	1.000	N	-0.345	N	2.82	T	-0.977	T	0.004	T	0.026	-2.313	0.004	-11.7	-3.396	-0.500	15.587	0.089	0.00174941461117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.409	0.10180	T	0.308	0.19845	T	.	.	.	.	.	.	0.008172	0.01195	N	2.937170	1	0.08975	N	.	.	.	2.82	0.10871	T	0.39	0.03521	N	0.028	0.00618	-0.9768	0.35727	T	0.004	0.01159	T	9	0.041787535	0.02866	T	0.001749	0.02960	T	0.089	0.25827	0.132	0.03662	0.189391138174	0.18552	0.024233412644393083	0.02374	0.0715074267756	0.08007	0.220904231071	0.01363	T	.	.	.	-0.419091	0.01733	T	-0.839772	0.01102	T	0.163269728422165	0.18110	T	0.505949	0.15996	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.01179	B	.;.	.;.	-2.126890	0.00076	0.001	0.16317375654650118	0.00433	0.05266	0.11105	N	AEFBCI	0.035466	0.04571	N	-1.80994119769322	0.00521	0.02243559	-1.90822098352281	0.00472	0.02088313	0.999929299357143	0.46280	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.87	-11.7	0.00035	-0.474000	0.06686	-1.172000	0.06122	-0.604000	0.04605	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.1685:0.0759:0.6807:0.0749	15.587	0.76240	493	0.76500	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1998.98	117	chr6	12123165	.	A	G	1998.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.100e-01;DP=1748;ExcessHet=0.0000;FS=1.269;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=-1.783e+00;SOR=0.827	GT:AD:DP:GQ:PL	0/0:95,0:95:99:0,120,1800	20	0	1	0
chr6	15523079	15523079	C	T	exonic	DTNBP1	.	nonsynonymous SNV	DTNBP1:NM_001271669:exon8:c.G847A:p.V283I	Hermansky-Pudlak syndrome 7, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	1905616	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.044	B	0.016	B	0.339	N	0.952	N	1.645	L	1.57	T	-0.952	T	0.042	T	0.139	2.633	14.76	0.247	0.011	0.382	23.222	0.062	0.00510675005397	.	.	4.118e-05	0	8.637e-05	0.0002	0.0002	0	0	6.056e-05	3.88e-05	6	154602	rs753546693	2.189e-05	2.189e-05	1.77e-05	2.613e-05	0.0002	1.584e-05	1.356e-05	0.0001	8.646e-05	0	4.472e-05	3.826e-05	7.557e-05	3.744e-05	0.0002	6.295e-06	1.656e-05	0.0002	1.315e-05	1.313e-05	0	2.691e-05	6.545e-05	2.18e-06	8.2e-07	.	.	0	0	6.545e-05	0	0	0	0	0	0.0005	0	0.134	0.29158	T	0.119	0.36233	T	0.044	0.21686	B	0.016	0.17743	B	0.338882	0.13995	N	0.621864	0.999995	0.26457	N	1.5	0.37844	L	1.57	0.29342	T	-0.19	0.09965	N	0.087	0.09914	-0.9524	0.40555	T	0.042	0.17910	T	10	0.05465913	0.05855	T	0.005107	0.12970	T	0.062	0.17934	0.326	0.30873	0.0297737177859	0.01360	0.02939719252123762	0.02888	0.0959658060652	0.10830	0.226958721876	0.01751	T	0.153655	0.49460	T	-0.425502	0.01579	T	-0.623279	0.10930	T	0.0278443538553726	0.01665	T	0.840716	0.54093	T	0.016570488	0.00207	0.049873225	0.07710	0.016570488	0.00207	0.049873225	0.07710	-4.535	0.31344	T	0.3381338659849289	0.43599	0.078	0.08512	B	.;.;.;.;.	.;.;.;.;.	0.322621	0.06969	3.521	0.93091796417878481	0.22716	0.13405	0.17837	N	AEFDBHCI	0.181546	0.30886	N	-0.961940098720548	0.09426	0.4460623	-1.00350636478248	0.09708	0.484549	0.966923964579113	0.28939	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.62	0.247	0.14781	0.530000	0.22742	-2.044000	0.04297	-0.184000	0.09925	0.024000	0.20007	0.000000	0.08366	0.537000	0.29868	0.0:0.8469:0.1531:0.0	23.222	0.99981	773	0.48803	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1018.98	42	chr6	15523079	.	C	T	1018.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.33;DP=802;ExcessHet=0.0000;FS=0.764;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.19;ReadPosRankSum=-5.940e-01;SOR=0.815	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1326	20	0	1	0
chr6	16143815	16143815	C	T	exonic	MYLIP	.	nonsynonymous SNV	MYLIP:NM_013262:exon5:c.C779T:p.A260V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.999	D	0.98	D	0.000	D	1.000	D	2.045	M	1.09	T	0.321	D	0.654	D	0.894	3.046	16.17	5.3	2.463	7.468	18.964	0.440	0.0735088454345	.	0.000199681	2.472e-05	9.619e-05	0	0	0	2.998e-05	0	0	2.59e-05	4	154602	rs201781624	4.105e-06	4.104e-06	5.445e-06	2.75e-06	1.159e-05	1.48e-06	9.7e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	1.159e-05	1.321e-05	1.314e-05	0	2.707e-05	2.428e-05	2.2e-06	8.2e-07	.	.	2.428e-05	0	0	0	0	0	0	1.472e-05	0	0	0.11	0.30800	T	0.22	0.30631	T	0.999	0.77913	D	0.98	0.74843	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.65	0.82625	D	-1.27	0.31981	N	0.863	0.85979	0.321	0.87897	D	0.654	0.87973	D	10	0.6978902	0.72259	D	0.073509	0.71808	D	0.440	0.74377	.	.	0.917068779723	0.91623	0.763102016952529	0.76258	0.511467238456	0.49222	0.773297011852	0.77917	T	0.41979	0.77170	T	0.248159	0.78429	D	0.300214	0.88207	D	0.83887106180191	0.49235	D	0.957071	0.83814	D	0.47494727	0.65593	0.24573329	0.50067	0.47494727	0.65594	0.24573329	0.50066	-8.716	0.65850	D	.	.	0.807	0.77612	P	.;.	.;.	4.532108	0.71161	25.6	0.99750599825124475	0.84228	0.97483	0.75040	D	AEFBCI	0.865559	0.78468	D	0.71164414811917	0.80397	7.284899	0.680977355404621	0.80937	7.411034	0.999999999999992	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.3	5.3	0.74745	7.551000	0.81129	7.711000	0.66806	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.816000	0.38450	0.0:1.0:0.0:0.0	18.964	0.92665	786	0.46839	FERM, C-terminal PH-like domain|FERM domain|FERM, C-terminal PH-like domain;FERM, C-terminal PH-like domain|FERM domain|FERM, C-terminal PH-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1301.98	37	chr6	16143815	.	C	T	1301.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.820e-01;DP=882;ExcessHet=0.0000;FS=4.651;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=-2.258e+00;SOR=0.383	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,101,1530	20	0	1	0
chr6	16327663	16327663	-	TGA	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.647_648insTCA:p.Q215_Q216insH	Spinocerebellar ataxia 1, Autosomal dominant	.	5	1457	32	0	28	60	0.0108622	.	.	3203057	ATXN1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0003	0.0030	0	2.698e-05	0	0.0003	6.5e-06	1	154602	rs766029394	0.0029	0.0032	0.0025	0.0033	0.0637	0.0028	0.0028	0.0614	0.0605	0.0003	0.0032	0.0007	0.0637	0.0012	0.0021	0.0005	0.0035	0.0116	0.0051	0.0059	0.0044	0.0058	0.0947	0.0048	0.0046	0.0862	0.0829	0.0007	0	0.0067	0.0012	0.0947	0.0013	0	0.0019	0.0106	0.0199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	690.94	58	chr6	16327663	.	C	CTGA	690.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.560e-01;DP=1750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=3.63;SOR=0.821	GT:AD:DP:GQ:PL	0/0:102,0:102:99:0,120,1800	20	0	1	0
chr6	16327669	16327669	C	A	exonic	ATXN1	.	nonsynonymous SNV	ATXN1:NM_001128164:exon7:c.G642T:p.Q214H	Spinocerebellar ataxia 1, Autosomal dominant	.	5	1466	29	0	22	51	0.00979399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	.	.	.	.	.	.	1.000	N	0	N	0.71	T	-1.033	T	0.013	T	0.184	0.138	4.744	.	-2.096	-0.244	.	0.019	.	.	.	0.0002	0	0.0003	0.0020	0	5.926e-05	0	0.0003	6.5e-06	1	154602	rs200111316	0.0022	0.0024	0.0019	0.0025	0.0455	0.0021	0.0021	0.0436	0.0428	0.0013	0.0018	0.0007	0.0455	0.0014	0.0040	0.0005	0.0028	0.0077	0.0050	0.0057	0.0045	0.0055	0.0623	0.0047	0.0045	0.0555	0.0528	0.0041	0	0.0055	0.0012	0.0623	0.0012	0.0217	0.0020	0.0089	0.0154	0.581	0.05973	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	0.71	0.51228	T	-0.24	0.10833	N	0.223	0.25006	-1.0332	0.19427	T	0.013	0.05177	T	5	0.003165722	0.00053	T	.	.	.	0.019	0.03383	0.243	0.17677	0.571625278582	0.56828	0.36497057281416573	0.36411	0.386732587604	0.39963	0.513806939125	0.40755	T	0.333686	0.70351	T	-0.170647	0.25137	T	-0.482899	0.24138	T	0.0146633580417803	0.00304	T	0.239776	0.03423	T	0.13407189	0.31163	0.1573729	0.36800	0.14230141	0.32754	0.17445123	0.39841	-6.779	0.52403	T	.	.	0.171	0.37690	B	.;.	.;.	1.005127	0.13839	10.39	0.70744731390196258	0.09396	0.00133	0.00820	N	AEFBI	0.024126	0.01446	N	-1.67939122662585	0.00917	0.03972131	-1.85113512368033	0.00609	0.02705755	0.695613069416805	0.22637	0.372202	0.05800	0	0.379588	0.06130	0	0.578056	0.29568	0	0.491896	0.07777	0	.	.	.	.	.	0.000000	0.12910	-0.548000	0.08544	0.000000	0.17513	0.828000	0.30104	0.000000	0.08366	0.189000	0.21571	.	.	.	709	0.56835	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	771.98	58	chr6	16327669	.	C	A	771.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.358e+00;DP=1750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=3.75;SOR=0.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:102,0:102:99:.:.:0,120,1800	20	0	1	0
chr6	16327687	16327687	-	TGCTGCTGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.623_624insGCAGCAGCA:p.Q208_H209insQQQ	Spinocerebellar ataxia 1, Autosomal dominant	.	17	803	243	34	425	736	0.162233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	0/0:40,0,0,0,0,0:40:99:0,99,1485,99,1485,1485,99,1485,1485,1485,99,1485,1485,1485,1485,99,1485,1485,1485,1485,1485	9	0	3	0
chr6	16327687	16327687	-	TGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.623_624insGCA:p.Q208_H209insQ	Spinocerebellar ataxia 1, Autosomal dominant	.	17	803	243	34	425	736	0.162233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	0/0:40,0,0,0,0,0:40:99:0,99,1485,99,1485,1485,99,1485,1485,1485,99,1485,1485,1485,1485,99,1485,1485,1485,1485,1485	9	0	3	0
chr6	16327687	16327687	-	TGCTGCTGCTGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.623_624insGCAGCAGCAGCA:p.Q208_H209insQQQQ	Spinocerebellar ataxia 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	0/0:40,0,0,0,0,0:40:99:0,99,1485,99,1485,1485,99,1485,1485,1485,99,1485,1485,1485,1485,99,1485,1485,1485,1485,1485	9	0	3	0
chr6	16328014	16328014	G	A	exonic	ATXN1	.	nonsynonymous SNV	ATXN1:NM_001357857:exon8:c.C268T:p.H90Y,	Spinocerebellar ataxia 1, Autosomal dominant	.	0	1514	8	0	0	8	0.00263505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.00239617	0.0016	0	0.0002	0.0109	0.0023	0.0009	0.0056	0.0010	0.001423	220	154602	rs148765123	0.0008	0.0008	0.0007	0.0009	0.0127	0.0007	0.0007	0.0118	0.0114	2.987e-05	2.237e-05	0	0.0127	0.0024	0.0014	0.0003	0.0011	0.0013	0.0009	0.0009	0.0008	0.0010	0.0106	0.0008	0.0007	0.0084	0.0076	2.408e-05	0	0	0	0.0106	0.0019	0.0034	0.0008	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.868271	0.28247	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008736819	0.00198	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303	0.53253	B	.	.	1.124685	0.15109	11.59	0.57719748383112635	0.05832	0.88445	0.48376	D	AEFDBI	0.008599	0.00042	N	.	.	.	.	.	.	0.684987258026002	0.22522	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.24	3.07	0.34476	0.994000	0.29294	4.187000	0.42377	-0.241000	0.07509	1.000000	0.71638	1.000000	0.68203	0.019000	0.11356	0.1337:0.1486:0.5666:0.1511	4.118	0.09560	708	0.56926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1954.98	58	chr6	16328014	.	G	A	1954.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.350e-01;DP=1141;ExcessHet=0.0000;FS=0.612;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.48;ReadPosRankSum=-4.110e-01;SOR=0.776	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr6	17130751	17130751	G	C	exonic	STMND1	.	nonsynonymous SNV	STMND1:NM_001190766:exon5:c.G701C:p.G234A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00585579662652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.788	0.03218	T	0.706	0.05602	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.175	0.29870	L	.	.	.	0.28	0.04233	N	0.052	0.02366	.	.	.	.	.	.	.	0.046383828	0.03823	T	0.005856	0.15221	T	.	.	.	.	0.112648838833	0.10856	0.010053791588558507	0.00967	.	.	0.240040302277	0.02794	T	0.00588	0.05325	T	-0.341489	0.05285	T	-0.728302	0.04405	T	.	.	.	0.540046	0.18281	T	0.04184452	0.06238	0.05348813	0.09018	0.04184452	0.06238	0.05348813	0.09018	-3.28	0.13480	T	.	.	0.092	0.13409	B	.	.	-0.667835	0.01396	0.081	0.14916702185829409	0.00346	0.04843	0.10575	N	AEFBHCI	0.068707	0.13566	N	.	.	.	.	.	.	0.00278354915616885	0.09705	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.16	-4.69	0.03061	-0.995000	0.03823	-0.106000	0.11884	-0.682000	0.04210	0.002000	0.15269	0.040000	0.21562	0.041000	0.14368	0.4993:0.216:0.2847:0.0	7.478	0.26559	898	0.25240	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1646.98	37	chr6	17130751	.	G	C	1646.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.18;DP=847;ExcessHet=0.0000;FS=1.391;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=0.427;SOR=0.558	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr6	17130821	17130821	A	C	exonic	STMND1	.	nonsynonymous SNV	STMND1:NM_001190766:exon5:c.A771C:p.E257D,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0144413437591	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.445e-06	1.368e-06	1.427e-06	1.465e-06	0.0002	2.4e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.727e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.17014	T	0.426	0.13872	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.895	0.22405	L	.	.	.	-1.36	0.33798	N	0.046	0.01825	.	.	.	.	.	.	.	0.06487301	0.08669	T	0.014441	0.34558	T	.	.	.	.	0.1749357433	0.17121	0.024201808120299793	0.02371	.	.	0.307710081339	0.11561	T	0.023834	0.18124	T	-0.274935	0.11213	T	-0.632701	0.10211	T	.	.	.	0.444256	0.12390	T	0.07296106	0.16269	0.06901265	0.14488	0.07296106	0.16268	0.06901265	0.14487	-3.099	0.11285	T	.	.	0.105	0.19114	B	.	.	1.325440	0.17300	13.08	0.98645679859077118	0.44110	0.09167	0.14977	N	AEFGBHCI	0.087023	0.17644	N	.	.	.	.	.	.	0.00171064215194114	0.08799	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.43	3.01	0.33872	0.149000	0.16062	0.776000	0.21438	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.459000	0.28096	0.7354:0.1762:0.0884:0.0	5.418	0.15681	898	0.25240	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2012.98	37	chr6	17130821	.	A	C	2012.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.985e+00;DP=870;ExcessHet=0.0000;FS=8.369;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=-1.065e+00;SOR=0.611	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr6	17628828	17628828	T	C	exonic	NUP153	.	nonsynonymous SNV	NUP153:NM_001278210:exon17:c.A3245G:p.N1082S	.	.	431	1072	19	0	0	19	0.0087841	.	.	2822731	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.003	B	0.383	N	1.000	N	0.11	N	3.31	T	-0.928	T	0.003	T	0.01	-0.971	0.307	-9.73	-1.804	-1.730	19.019	0.129	0.00372501032863	0.0031	0.000998403	0.0032	0.0004	0.0026	0.0001	0.0005	0.0046	0.0044	0.0022	0.003357	519	154602	rs144294630	0.0039	0.0039	0.0039	0.0040	0.0106	0.0039	0.0038	0.0085	0.0077	0.0009	0.0030	0.0137	5.038e-05	0.0010	0.0106	0.0042	0.0043	0.0023	0.0029	0.0029	0.0030	0.0028	0.0044	0.0027	0.0026	0.0040	0.0038	0.0005	0	0.0030	0.0141	0.0002	0.0004	0.0034	0.0044	0.0052	0.0017	0.423	0.09746	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.382846	0.13365	N	0.674189	1	0.08975	N	0.085	0.08345	N	3.3	0.06368	T	0.28	0.04306	N	0.074	0.07535	-0.9277	0.44473	T	0.003	0.00800	T	10	0.0024119318	0.00036	T	0.003725	0.08620	T	0.129	0.35316	.	.	0.271610670623	0.26767	0.05103344314998862	0.05045	0.0282340528876	0.02900	0.236846446991	0.02513	T	0.004114	0.03522	T	-0.749519	0.00018	T	-0.847074	0.00998	T	0.00716807550357163	0.00082	T	0.756624	0.37993	T	0.03424561	0.03807	0.042741608	0.05158	0.03424561	0.03806	0.042741608	0.05158	-2.106	0.03706	T	.	.	0.050	0.00428	B	.;.;.	.;.;.	-1.453658	0.00324	0.006	0.27025534305295745	0.01322	0.05944	0.11901	N	AEFBI	0.046642	0.07767	N	-1.83226928420262	0.00471	0.02026495	-1.84785028728836	0.00618	0.02745483	0.999892360678897	0.45129	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.57	-9.73	0.00427	-1.309000	0.02836	-6.274000	0.01445	-0.780000	0.03343	0.000000	0.06391	0.000000	0.08366	0.978000	0.57271	0.0:0.6485:0.0:0.3515	19.019	0.92885	478	0.77585	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1376.98	33	chr6	17628828	.	T	C	1376.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.690e-01;DP=832;ExcessHet=0.0000;FS=2.360;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.38;ReadPosRankSum=0.021;SOR=0.483	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,101,1437	20	0	1	0
chr6	17834062	17834062	C	T	exonic	KIF13A	.	nonsynonymous SNV	KIF13A:NM_001105566:exon12:c.G1165A:p.A389T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.934	P	0.642	P	0.000	D	1.000	D	0.6	N	-0.63	T	-0.815	T	0.203	T	0.616	4.617	25.2	5.62	2.639	7.776	19.672	0.269	0.0399943940101	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1452000005	7.064e-07	7.531e-06	0	1.419e-06	9.149e-07	0	0	.	.	0	0	0	0	0	0	9.149e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.16144	T	0.464	0.13912	T	0.934	0.52202	P	0.517	0.52168	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.32	0.33002	L	-0.63	0.72125	T	-1.65	0.39503	N	0.434	0.49146	-0.8145	0.54275	T	0.203	0.56031	T	10	0.2964295	0.47208	T	0.039994	0.59127	D	0.269	0.58381	0.183	0.09131	0.409337501531	0.40548	0.6612699681032546	0.66063	0.512778458504	0.49301	0.762370824814	0.76282	T	0.019713	0.15652	T	0.0651563	0.60254	T	-0.144184	0.59753	T	0.822717905044556	0.47975	D	0.866613	0.57273	D	0.2225743	0.44859	0.22889775	0.47945	0.2225743	0.44859	0.22889775	0.47944	-8.522	0.64647	D	.	.	0.235	0.65850	B	.;.;.;.;.	.;.;.;.;.	4.140686	0.62030	24.4	0.99861159657454024	0.94002	0.98360	0.81988	D	AEFBI	0.908276	0.86338	D	0.177284286709842	0.50109	3.204167	0.353092635159353	0.58693	4.04152	0.999999999999945	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.62	5.62	0.85714	5.012000	0.63775	5.974000	0.52050	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.672	0.95909	594	0.68584	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	30.64	48	chr6	17834062	.	C	T	30.64	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.679e+00;DP=1181;ExcessHet=0.1072;FS=281.700;InbreedingCoeff=-0.0471;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.22;ReadPosRankSum=0.879;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:57,0:57:99:.:.:0,120,1800	19	0	2	0
chr6	17834063	17834063	C	G	exonic	KIF13A	.	nonsynonymous SNV	KIF13A:NM_001105566:exon12:c.G1164C:p.K388N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.999	D	0.961	D	0.000	D	1.000	D	1.78	L	-0.69	T	-0.384	T	0.332	T	0.23	3.631	18.47	3.84	1.373	1.221	8.883	0.247	0.0686083631907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.44694	D	0.049	0.49120	D	0.999	0.77913	D	0.961	0.70482	D	0.000000	0.84330	D	0.000000	0.999921	0.51308	D	1.955	0.52871	M	-0.69	0.72785	T	-3.33	0.66206	D	0.554	0.61511	-0.3841	0.72524	T	0.332	0.69952	T	10	0.37474382	0.53745	T	0.068608	0.70499	D	0.247	0.55478	0.263	0.20788	0.73115622728	0.72876	0.738330941809585	0.73778	0.942097086966	0.72248	0.856371760368	0.90572	D	0.181262	0.53288	T	-0.0557371	0.43570	T	-0.317839	0.42812	T	0.987234175205231	0.77770	D	0.928207	0.73493	D	0.54704165	0.69790	0.3287603	0.58762	0.54704165	0.69791	0.3287603	0.58761	-9.018	0.67826	D	.	.	0.779	0.86668	P	.;.;.;.;.	.;.;.;.;.	3.242571	0.44271	21.9	0.99861958421083385	0.94002	0.93140	0.57430	D	AEFBI	0.509592	0.53899	D	0.268245999491333	0.54547	3.619969	0.289182497646197	0.54906	3.65448	0.992618420883153	0.32904	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.62	3.84	0.43422	0.696000	0.25220	1.117000	0.24210	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.997000	0.79791	0.0:0.7779:0.0:0.2221	8.883	0.34546	594	0.68584	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	30.65	48	chr6	17834063	.	C	G	30.65	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.904e+00;DP=1170;ExcessHet=0.1072;FS=281.700;InbreedingCoeff=-0.0472;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.22;ReadPosRankSum=1.01;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:57,0:57:99:.:.:0,120,1800	19	0	2	0
chr6	18161415	18161415	C	T	exonic	KDM1B	.	nonsynonymous SNV	KDM1B:NM_001364614:exon4:c.C176T:p.T59M	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.487	P	0.038	B	0.035	N	1.000	D	1.61	L	1.49	T	-1.102	T	0.035	T	0.372	3.684	18.72	4.91	1.445	5.487	14.934	0.065	0.0156215128554	7.7e-05	0.000399361	0.0002	9.615e-05	0.0002	0.0003	0.0005	0.0002	0	6.066e-05	0.0001552	24	154602	rs146369504	9.988e-05	0.0001	7.351e-05	0.0001	0.0005	8.646e-05	8.135e-05	0.0001	7.541e-05	0.0002	0.0001	0.0008	0.0002	0.0003	0.0005	6.745e-05	0.0001	3.478e-05	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0001	0.0004	0.0002	0.0002	0	0.0005	0.0012	0.0010	0.0006	0	7.35e-05	0.0005	0	0.008	0.58626	D	0.02	0.58613	D	.	.	.	.	.	.	0.034748	0.24730	N	0.425927	0.539634	0.81001	D	1.935	0.51832	L	1.46	0.32238	T	-1.1	0.28497	N	0.213	0.23758	-1.1016	0.03903	T	0.035	0.15291	T	10	0.030314624	0.01158	T	0.015622	0.36454	T	0.065	0.18881	.	.	0.200294437569	0.19612	0.3945655587033998	0.39371	0.732726945152	0.62802	0.449140489101	0.31826	T	.	.	.	-0.286514	0.09989	T	-0.34901	0.39319	T	0.062014701560909	0.07482	T	0.939106	0.77861	D	.	.	.	.	.	.	.	.	-5.919	0.45596	T	.	.	0.089	0.28693	B	.;.	.;.	4.859708	0.79517	27.1	0.99823081339797204	0.90590	0.89909	0.50687	D	AEFBI	0.199426	0.32622	N	0.0074079881742256	0.42191	2.537533	0.0706684706042384	0.43082	2.617364	0.999999722407607	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.78	4.91	0.63897	5.823000	0.68956	7.698000	0.66136	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.819000	0.38590	0.0:0.9315:0.0:0.0685	14.934	0.70589	748	0.52143	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1971.98	38	chr6	18161415	.	C	T	1971.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.889;DP=949;ExcessHet=0.0000;FS=0.553;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=1.80;SOR=0.773	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr6	18171430	18171430	A	C	exonic	KDM1B	.	nonsynonymous SNV	KDM1B:NM_001364614:exon7:c.A485C:p.Q162P	.	.	430	1056	32	4	0	40	0.0185874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.0	B	0.001	B	0.335	N	1.000	D	1.39	L	1.51	T	-1.095	T	0.041	T	0.407	2.712	15.03	4.24	0.869	3.601	12.498	0.137	0.00648607289885	0.0034	0.00319489	0.0032	0.0005	0.0017	0	0.0002	0.0036	0.0055	0.0069	0.0030465	471	154602	rs149734475	0.0028	0.0028	0.0027	0.0030	0.0085	0.0028	0.0027	0.0069	0.0067	0.0004	0.0016	3.826e-05	0	0.0004	0.0085	0.0028	0.0030	0.0074	0.0021	0.0021	0.0023	0.0019	0.0050	0.0019	0.0019	0.0035	0.0033	0.0003	0	0.0010	0	0.0002	0.0002	0.0136	0.0038	0.0028	0.0050	0.042	0.41637	D	0.087	0.40747	T	.	.	.	.	.	.	0.335157	0.04154	N	1.560660	1	0.81001	D	1.7	0.43825	L	1.48	0.31731	T	-0.76	0.21215	N	0.54	0.56748	-1.0950	0.04752	T	0.041	0.17657	T	10	0.008307725	0.00188	T	0.006486	0.17072	T	0.137	0.36984	.	.	0.312529679308	0.30857	0.751307291187119	0.75077	1.13811683318	0.78839	0.326103448868	0.14345	T	.	.	.	-0.453143	0.01082	T	-0.41968	0.31112	T	0.020574591945722	0.00757	T	0.913209	0.69822	D	.	.	.	.	.	.	.	.	-5.21	0.39043	T	.	.	0.116	0.30686	B	.;.	.;.	3.203952	0.43583	21.8	0.99065892226933139	0.51598	0.78064	0.38461	D	AEFGBI	0.314278	0.41918	N	-0.161843836512971	0.34733	1.986093	-0.0136219713147727	0.39097	2.31317	0.999994216246781	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.42	4.24	0.49486	3.879000	0.55850	7.874000	0.72122	0.691000	0.84096	0.945000	0.32849	1.000000	0.68203	0.993000	0.69303	0.8603:0.1397:0.0:0.0	12.498	0.55282	749	0.51929	Zinc finger, CW-type|Zinc finger, CW-type;.	.	.	.	.	rs149734475	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1034.98	34	chr6	18171430	.	A	C	1034.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.337e+00;DP=775;ExcessHet=0.0000;FS=0.784;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=-2.310e-01;SOR=0.714	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1387	20	0	1	0
chr6	19838155	19838155	C	T	exonic	ID4	.	nonsynonymous SNV	ID4:NM_001546:exon1:c.C401T:p.A134V,	.	.	422	1097	2	1	0	4	0.00181984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416	B	0.078	B	0.115	N	0.686	N	0	N	-1.15	T	-1.058	T	0.087	T	0.179	1.741	11.78	1.54	1.458	0.209	9.939	0.231	0.799026717674	.	.	0.0010	0	0.0018	0	0	9.053e-05	0	0.0029	0.0002264	35	154602	rs755277892	0.0001	0.0001	7.79e-05	0.0002	0.0020	0.0001	0.0001	0.0017	0.0016	0	3.049e-05	4.283e-05	0	0	0.0017	1.032e-05	0.0001	0.0020	4.604e-05	4.594e-05	1.287e-05	8.072e-05	0.0014	2.111e-05	1.528e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	0.156	0.24090	T	0.239	0.24477	T	0.416	0.35222	B	0.078	0.28627	B	0.114996	0.19252	N	0.486248	0.685816	0.30237	N	1.245	0.31408	L	-1.15	0.77964	T	-1.19	0.30346	N	0.073	0.04668	-1.0585	0.12134	T	0.087	0.33634	T	9	0.025958866	0.00775	T	0.799027	0.98426	D	0.231	0.53208	0.065	0.00293	0.774559073603	0.77248	0.4953486265445007	0.49455	0.615504475443	0.56028	0.905481100082	0.97025	D	0.234726	0.60181	T	-0.416534	0.01800	T	-0.377575	0.36006	T	0.0279389254958791	0.01680	T	0.684632	0.29288	T	0.08812124	0.20546	0.11761489	0.28392	0.08812124	0.20546	0.11761489	0.28391	-5.395	0.40871	T	.	.	0.084	0.09723	B	.	.	2.449039	0.31530	18.77	0.98917925076401569	0.48509	0.13120	0.17674	N	AEFDBCIJ	0.205395	0.33175	N	-0.658182930012867	0.17222	0.8843883	-0.640591711649924	0.18455	0.985923	0.999964466147213	0.48965	0.652421	0.48094	0	0.59043	0.45803	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	2.58	1.54	0.22290	0.104000	0.15148	1.573000	0.27428	0.443000	0.21123	0.067000	0.21986	1.000000	0.68203	0.879000	0.42020	0.0:0.7924:0.2076:0.0	9.939	0.40739	865	0.32612	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1036.98	35	chr6	19838155	.	C	T	1036.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.29;DP=829;ExcessHet=0.0000;FS=0.885;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=0.368;SOR=0.805	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr6	20212189	20212191	CCG	-	exonic	MBOAT1	.	nonframeshift deletion	MBOAT1:NM_001080480:exon1:c.44_46del:p.T15_G16delinsS,	.	.	425	1091	5	1	0	7	0.00319781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.000599042	0.0005	0.0001	0.0006	0	0	0.0006	0	0.0005	0.0003687	57	154602	rs572147520	0.0003	0.0003	0.0003	0.0004	0.0026	0.0003	0.0003	0.0016	0.0012	0.0002	0.0006	0.0006	0	0	0.0026	0.0003	0.0007	0.0003	0.0003	0.0003	0.0004	0.0002	0.0008	0.0002	0.0002	0.0005	0.0004	9.621e-05	0	0.0008	0.0012	0	0	0	0.0004	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	810.94	39	chr6	20212188	.	CCCG	C	810.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.287;DP=819;ExcessHet=0.0000;FS=4.837;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.27;ReadPosRankSum=-4.370e-01;SOR=1.671	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	20	0	1	0
chr6	20402602	20402602	-	GCG	exonic	E2F3	.	nonframeshift insertion	E2F3:NM_001949:exon1:c.370_371insGCG:p.G129_P130insG,	.	.	324	1191	6	1	0	8	0.00334728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0	0	0	0	0	0	0.0023	0.0002329	36	154602	rs781324605	0.0007	0.0008	0.0004	0.0010	0.0128	0.0007	0.0007	0.0120	0.0117	4.278e-05	0	0	0.0001	0	0.0016	0.0002	0.0010	0.0128	0.0004	0.0004	0.0003	0.0005	0.0074	0.0003	0.0003	0.0054	0.0047	0.0001	0	6.732e-05	0	0	0	0.0034	0.0003	0	0.0074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	669.94	38	chr6	20402602	.	A	AGCG	669.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=557;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=25.77;ReadPosRankSum=1.62;SOR=0.657	GT:AD:DP:GQ:PL	0/0:19,0:19:51:0,51,765	20	0	1	0
chr6	20739586	20739586	G	C	exonic	CDKAL1	.	nonsynonymous SNV	CDKAL1:NM_017774:exon6:c.G439C:p.D147H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.725	P	0.834	P	0.000	D	1.000	D	1.52	L	0.88	T	-0.843	T	0.169	T	0.653	2.902	15.67	4.77	2.192	8.674	16.602	0.238	0.0164497076144	.	0.00159744	0.0005	0	8.755e-05	0	0	0	0.0011	0.0034	0.0004204	65	154602	rs572119016	0.0002	0.0002	9.948e-05	0.0003	0.0029	0.0002	0.0002	0.0026	0.0025	2.992e-05	0	0	0	0	0.0003	2.7e-06	0.0002	0.0029	0.0001	0.0001	6.424e-05	0.0002	0.0043	9.143e-05	7.699e-05	0.0029	0.0024	0	0	0	0	0	0	0	0	0	0.0043	0.028	0.46129	D	0.084	0.41239	T	0.066	0.23586	B	0.063	0.27082	B	0.000001	0.62929	D	0.055938	0.999998	0.58761	D	2.34	0.67151	M	0.84	0.47477	T	-2.66	0.56945	D	0.573	0.59563	-0.8429	0.52453	T	0.169	0.50923	T	10	0.011422008	0.00250	T	0.01645	0.37712	T	0.238	0.54217	0.498	0.58835	0.223474106383	0.21959	0.7851317473490002	0.78464	1.01276443992	0.74830	0.714356184006	0.69224	T	0.514895	0.82923	D	-0.262737	0.12582	T	-0.15323	0.58956	T	0.133196867187515	0.15674	T	0.835416	0.50550	T	0.42354622	0.62327	0.2975687	0.55790	0.444108	0.63667	0.27392375	0.53315	-8.561	0.64832	D	.	.	0.253	0.50627	B	.;.	.;.	4.598086	0.72796	25.9	0.99221485473490689	0.55901	0.98182	0.80315	D	AEFI	0.819181	0.74026	D	0.347020382480745	0.58582	4.031346	0.426065789532619	0.63192	4.54838	0.999993751456609	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	4.77	4.77	0.60425	9.262000	0.94771	8.485000	0.77311	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	16.602	0.84671	918	0.19598	Methylthiotransferase, N-terminal|Radical SAM;Methylthiotransferase, N-terminal|Radical SAM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	764.98	33	chr6	20739586	.	G	C	764.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=758;ExcessHet=0.0000;FS=3.094;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.68;ReadPosRankSum=-1.309e+00;SOR=1.113	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1221	20	0	1	0
chr6	21595021	21595032	GGGGGCGGCCAT	-	exonic	SOX4	.	nonframeshift deletion	SOX4:NM_003107:exon1:c.487_498del:p.H166_G169del,	.	.	267	1249	4	2	0	8	0.00319234	.	.	2822740	not_provided|SOX4-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0051	.	0.0039	0.0019	0	0.0008	0	0.0059	0	0.0005	3.88e-05	6	154602	rs747523746	0.0058	0.0055	0.0059	0.0057	0.0069	0.0057	0.0056	0.0068	0.0067	0.0012	0.0015	0.0008	0.0014	0.0005	0.0030	0.0069	0.0039	0.0014	0.0034	0.0034	0.0037	0.0031	0.0059	0.0031	0.0030	0.0054	0.0052	0.0012	0	0.0024	0.0006	0.0006	0.0005	0	0.0059	0.0033	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1246.94	36	chr6	21595020	.	CGGGGGCGGCCAT	C	1246.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.503;DP=864;ExcessHet=0.0000;FS=1.311;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.09;ReadPosRankSum=-1.642e+00;SOR=1.000	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1017	20	0	1	0
chr6	24145554	24145554	C	G	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196G:p.L66V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.946	D	0.000	D	1.000	D	2.015	M	2.04	T	-1.026	T	0.105	T	0.742	3.788	19.23	5.46	2.571	5.817	19.326	0.159	0.0244498327376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.014	0.62352	D	0.997	0.70673	D	0.946	0.68276	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	1.995	0.54099	M	2.04	0.38397	T	-1.04	0.27259	N	0.598	0.61680	-1.0261	0.21723	T	0.105	0.38341	T	10	0.38316447	0.54345	T	0.02445	0.47438	T	0.159	0.41286	0.222	0.14518	0.592685350901	0.58946	0.5903367191441313	0.58963	1.01389843922	0.74865	0.620901226997	0.55857	T	0.070066	0.33867	T	0.0642638	0.60145	T	-0.145466	0.59643	T	0.947459578514099	0.62685	D	0.808619	0.45852	T	0.4937834	0.66727	0.37499517	0.62653	0.4937834	0.66728	0.37499517	0.62652	-4.546	0.31486	T	.	.	0.126	0.27222	B	.;.;.	.;.;.	4.497323	0.70306	25.5	0.99826269118642064	0.90852	0.95160	0.63658	D	AEFBCI	0.809917	0.73329	D	0.709881601940465	0.80282	7.259509	0.688265315290989	0.81488	7.538295	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4474	3322.42	61	chr6	24145554	.	C	G,T	3322.42	.	AC=6,11;AF=0.158,0.289;AN=38;BaseQRankSum=-1.663e+00;DP=1570;ExcessHet=25.1139;FS=225.828;InbreedingCoeff=-0.7530;MLEAC=6,12;MLEAF=0.158,0.316;MQ=60.00;MQRankSum=0.00;QD=2.85;ReadPosRankSum=0.280;SOR=12.310	GT:AD:DP:GQ:PL	0/1:48,11,8:67:99:124,0,1486,125,707,807	2	0	6	2
chr6	24145554	24145554	C	T	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196T:p.L66F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.989	D	0.000	D	1.000	D	2.36	M	2.04	T	-0.937	T	0.125	T	0.77	4.052	20.8	5.46	2.571	5.817	19.326	0.220	0.0253960966298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.69	0.78713	M	2.04	0.39401	T	-1.57	0.50175	N	0.716	0.72120	-0.9366	0.43149	T	0.125	0.43008	T	10	0.44065765	0.58079	T	0.025396	0.48370	D	0.220	0.51569	0.202	0.11659	0.625481101073	0.62243	0.6214858075856532	0.62081	1.05154938784	0.76170	0.661980450153	0.61693	T	0.106732	0.41833	T	0.0952099	0.63771	D	-0.101014	0.63320	T	0.97040581703186	0.68937	D	0.857914	0.54791	D	0.46572846	0.65027	0.39292505	0.64025	0.46572846	0.65028	0.39292505	0.64025	-5.631	0.43075	T	.	.	0.162	0.37159	B	.;.;.	.;.;.	4.745988	0.76591	26.5	0.99895236271233467	0.96819	0.96227	0.68120	D	AEFBCI	0.831099	0.74969	D	0.760478614766467	0.83585	8.056313	0.721496033539898	0.84012	8.174695	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4474	3322.42	61	chr6	24145554	.	C	G,T	3322.42	.	AC=6,11;AF=0.158,0.289;AN=38;BaseQRankSum=-1.663e+00;DP=1570;ExcessHet=25.1139;FS=225.828;InbreedingCoeff=-0.7530;MLEAC=6,12;MLEAF=0.158,0.316;MQ=60.00;MQRankSum=0.00;QD=2.85;ReadPosRankSum=0.280;SOR=12.310	GT:AD:DP:GQ:PL	0/1:48,11,8:67:99:124,0,1486,125,707,807	2	0	6	2
chr6	24423690	24423690	G	A	exonic	MRS2	.	nonsynonymous SNV	MRS2:NM_001286266:exon9:c.G1178A:p.R393H	.	.	435	1062	25	0	0	25	0.0116333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.855	P	0.001	D	1.000	N	0.695	N	1.33	T	-1.042	T	0.077	T	0.615	3.954	20.2	4.68	1.584	1.928	6.430	0.197	0.030606050027	0.0028	0.00279553	0.0033	0.0027	0.0059	0.0006	0	0.0035	0.0046	0.0039	0.003163	489	154602	rs114959453	0.0025	0.0025	0.0023	0.0026	0.0236	0.0024	0.0024	0.0204	0.0191	0.0022	0.0051	0.0035	0.0005	5.644e-05	0.0236	0.0022	0.0035	0.0042	0.0030	0.0030	0.0029	0.0032	0.0056	0.0028	0.0027	0.0046	0.0043	0.0026	0	0.0056	0.0029	0.0008	0	0.0204	0.0030	0.0099	0.0044	0.003	0.68238	D	0.011	0.64786	D	0.996	0.68779	D	0.855	0.60933	P	0.000819	0.41658	D	0.110120	0.999996	0.58761	D	2.295	0.65404	M	1.19	0.37578	T	-1.17	0.29933	N	0.254	0.28732	-1.0416	0.16830	T	0.077	0.30798	T	10	0.00927484	0.00209	T	0.030606	0.52882	D	0.197	0.47942	.	.	0.591348262392	0.58811	0.3566446053776495	0.35578	1.20472787136	0.80666	0.304095566273	0.11015	T	0.090497	0.38598	T	-0.350518	0.04695	T	-0.27573	0.47239	T	0.0340691524677593	0.02650	T	0.912409	0.68863	D	0.04689022	0.07925	0.03757665	0.03441	0.04689022	0.07924	0.03757665	0.03440	-4.492	0.30784	T	.	.	0.118	0.24020	B	.;.;.	.;.;.	3.836069	0.55479	23.6	0.99840369290410014	0.92057	0.67209	0.33350	D	AEFBI	0.075384	0.15136	N	0.0696595088378875	0.45052	2.768253	-0.0100206926418895	0.39262	2.325203	0.00413566220551161	0.10430	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.55	4.68	0.58319	2.787000	0.47487	2.267000	0.31803	-0.110000	0.15115	0.992000	0.37556	0.897000	0.27914	0.009000	0.08673	0.2893:0.0:0.7107:0.0	6.430	0.20993	721	0.55360	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1063.98	33	chr6	24423690	.	G	A	1063.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.590e-01;DP=774;ExcessHet=0.0000;FS=0.886;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.00;ReadPosRankSum=-6.380e-01;SOR=0.573	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1303	20	0	1	0
chr6	24449830	24449830	C	T	exonic	GPLD1	.	nonsynonymous SNV	GPLD1:NM_001503:exon15:c.G1405A:p.V469M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.991	D	0.001	D	1.000	D	4.185	H	-0.82	T	0.628	D	0.682	D	0.759	4.248	22.1	5.35	2.484	2.570	13.400	0.649	0.104604768328	.	0.000399361	7.443e-05	0.0002	0	0	0	0.0001	0	0	8.41e-05	13	154602	rs142854013	9.784e-05	9.782e-05	0.0001	9.489e-05	0.0003	8.445e-05	7.922e-05	6.322e-05	5.825e-05	5.974e-05	4.473e-05	0.0015	5.039e-05	0	0.0003	7.645e-05	0.0002	0	6.568e-05	6.562e-05	5.14e-05	8.06e-05	0.0002	3.515e-05	2.615e-05	2.26e-05	9.07e-06	4.813e-05	0	0.0001	0.0006	0.0002	0	0	2.94e-05	0.0005	0	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.991	0.79672	D	0.000656	0.42656	D	0.098975	0.928214	0.36888	D	3.545	0.93219	H	-0.82	0.74053	T	-2.4	0.52776	N	0.639	0.65159	0.628	0.92270	D	0.682	0.89014	D	10	0.33045512	0.50283	T	0.104605	0.77927	D	0.649	0.86736	.	.	0.831590232921	0.82998	0.6765934112816115	0.67598	0.454322023127	0.45126	0.529373943806	0.42946	T	0.586482	0.86538	D	0.0620918	0.59875	T	0.0430967	0.73130	D	0.590603709220886	0.36030	D	0.940639	0.77718	D	0.52934384	0.68793	0.55822855	0.74444	0.52934384	0.68794	0.55822855	0.74444	-11.191	0.80695	D	.	.	0.340	0.55883	B	.	.	5.218045	0.87575	29.3	0.99906851052549028	0.97726	0.82323	0.41568	D	AEFBI	0.249550	0.36976	N	0.874268062007635	0.90444	10.40643	0.761049614675156	0.86981	9.066697	0.0271670618771353	0.13757	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.35	5.35	0.76297	2.895000	0.48347	5.826000	0.50123	0.547000	0.25779	0.990000	0.36992	1.000000	0.68203	0.864000	0.41028	0.0:0.922:0.0:0.078	13.400	0.60323	749	0.51929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1446.98	37	chr6	24449830	.	C	T	1446.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.191;DP=818;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.47;ReadPosRankSum=1.33;SOR=0.666	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1209	20	0	1	0
chr6	24454130	24454130	C	T	exonic	GPLD1	.	nonsynonymous SNV	GPLD1:NM_001503:exon14:c.G1220A:p.R407H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.027	B	0.024	B	0.051	N	1.000	N	0.805	L	-0.28	T	-1.022	T	0.059	T	0.133	1.227	9.977	-0.484	-0.327	-0.892	5.085	0.023	0.0165257471007	.	.	4.133e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs747620971	3.968e-05	4.036e-05	3.131e-05	4.813e-05	0.0005	3.113e-05	2.847e-05	0.0003	0.0003	2.987e-05	4.473e-05	0	0	0	0	9.893e-06	8.28e-05	0.0005	1.972e-05	2.627e-05	3.855e-05	0	0.0002	5.24e-06	2.45e-06	5.288e-05	2.836e-05	0	0	0.0002	0	0	0	0	0	0	0	0.395	0.10659	T	0.277	0.21880	T	0.027	0.19556	B	0.024	0.20255	B	0.051001	0.23020	N	0.376456	1	0.08975	N	1.03	0.25572	L	-0.28	0.67543	T	-0.86	0.23372	N	0.107	0.09207	-1.0222	0.22998	T	0.059	0.24871	T	10	0.03774014	0.02147	T	0.016526	0.37830	T	0.023	0.04649	0.393	0.41770	0.380052290102	0.37618	0.36834111612526715	0.36748	0.103170953858	0.11667	0.206366121769	0.00666	T	0.030792	0.21743	T	-0.438071	0.01328	T	-0.545069	0.17802	T	0.0354474782943726	0.02884	T	0.786621	0.42528	T	0.019229846	0.00451	0.024372628	0.00455	0.019229846	0.00450	0.024372628	0.00455	-4.582	0.31945	T	.	.	0.059	0.00820	B	.	.	-0.266909	0.02765	0.373	0.99116876020758871	0.52880	0.01422	0.04795	N	AEFDI	0.048787	0.08362	N	-1.24092553260516	0.04420	0.1994664	-1.24744181819114	0.05169	0.2456511	9.61795107067607E-5	0.04910	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.44	-0.484	0.11469	-0.616000	0.05686	-4.574000	0.02088	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.358:0.2574:0.3846	5.085	0.14010	749	0.51929	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1203.98	86	chr6	24454130	.	C	T	1203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.820e-01;DP=851;ExcessHet=0.0000;FS=0.846;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.00;ReadPosRankSum=1.42;SOR=0.562	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	20	0	1	0
chr6	24495226	24495226	C	G	exonic	ALDH5A1	.	nonsynonymous SNV	ALDH5A1:NM_001080:exon1:c.C230G:p.P77R	Succinic semialdehyde dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.999	D	0.883	P	0.000	D	1.000	D	2.165	M	-0.99	T	0.479	D	0.735	D	0.693	3.239	16.86	3.84	1.679	5.844	12.895	0.550	0.837700405192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.41364	D	0.073	0.43721	T	0.999	0.77913	D	0.883	0.62698	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.69	0.43327	L	-0.99	0.90735	T	-2.18	0.49846	N	0.577	0.60579	0.479	0.90254	D	0.735	0.90930	D	10	0.8044621	0.79803	D	0.838	0.98744	D	0.550	0.81369	0.356	0.35734	0.966274688604	0.96590	0.5077578847228358	0.50697	0.818213744515	0.67034	0.919208407402	0.98262	D	0.371709	0.73603	T	0.230873	0.76803	D	0.093857	0.76501	D	0.97805255651474	0.72138	D	0.989161	0.97430	D	0.8175259	0.85054	0.65795684	0.79967	0.8175259	0.85055	0.65795684	0.79968	-6.788	0.52470	T	.	.	0.094	0.24901	B	.;.;.	.;.;.	4.054178	0.60118	24.2	0.99575881809425648	0.72682	0.86509	0.45804	D	ALL	0.666440	0.63491	D	0.390702200508145	0.60919	4.286207	0.286944763509148	0.54776	3.641693	1.0	0.98316	0.437478	0.07067	0	0.484254	0.07192	0	0.47417	0.07244	0	0.603991	0.37454	0	.	.	3.84	3.84	0.43422	5.905000	0.69631	4.347000	0.43075	0.448000	0.21234	1.000000	0.71638	1.000000	0.68203	0.069000	0.16583	0.0:1.0:0.0:0.0	12.895	0.57483	768	0.49510	Aldehyde dehydrogenase domain;.;Aldehyde dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	477.98	36	chr6	24495226	.	C	G	477.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.993e+00;DP=768;ExcessHet=0.0000;FS=2.205;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.84;ReadPosRankSum=-1.834e+00;SOR=1.136	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1092	20	0	1	0
chr6	24596121	24596121	-	GTCC	exonic	KIAA0319	.	frameshift insertion	KIAA0319:NM_001168376:exon2:c.417_418insGGAC:p.W140Gfs*31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1656.94	38	chr6	24596121	.	A	AGTCC	1656.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=886;ExcessHet=0.0000;FS=0.783;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.82;ReadPosRankSum=-1.120e+00;SOR=0.848	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,114,1390	20	0	1	0
chr6	24651033	24651033	C	G	exonic	TDP2	.	nonsynonymous SNV	TDP2:NM_016614:exon7:c.G844C:p.D282H,	Spinocerebellar ataxia, autosomal recessive 23, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.005	M	1.69	T	-0.698	T	0.196	T	0.918	5.023	29.6	6.07	2.884	7.362	20.644	0.592	0.210428734756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.175	0.88760	M	1.69	0.27032	T	-6.54	0.91956	D	0.991	0.99776	-0.6977	0.60548	T	0.196	0.54970	T	10	0.9876216	0.99138	D	0.210429	0.87252	D	0.592	0.83747	0.893	0.97460	0.638114607455	0.63514	0.9382872160209571	0.93809	0.727299072329	0.62562	0.655225038528	0.60727	T	0.760075	0.95582	D	0.293966	0.82480	D	0.184486	0.82254	D	0.999176800251007	0.96429	D	0.910309	0.68205	D	0.9099958	0.92294	0.90009004	0.94982	0.9099958	0.92295	0.90009004	0.94983	-14.304	0.94003	D	.	.	0.989	0.93267	P	.;.	.;.	5.154231	0.86338	28.9	0.99602355162961709	0.74278	0.99229	0.93135	D	AEFGBI	0.885990	0.81699	D	0.983363411012776	0.95210	13.40805	0.949443741997497	0.97388	16.04422	0.999999999187853	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	7.443000	0.79636	7.677000	0.65097	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	20.644	0.99572	740	0.53092	Endonuclease/exonuclease/phosphatase;Endonuclease/exonuclease/phosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	898.98	36	chr6	24651033	.	C	G	898.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.47;DP=781;ExcessHet=0.0000;FS=2.058;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.31;ReadPosRankSum=0.355;SOR=1.031	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1322	20	0	1	0
chr6	24697933	24697935	AGA	-	exonic	ACOT13	.	nonframeshift deletion	ACOT13:NM_018473:exon2:c.132_134del:p.E47del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0.0007	0	0.0006	0.0012	0	1.5e-05	0	0.0037	0.0001921	5	26028	rs572706204	0.0003	0.0003	0.0002	0.0004	0.0037	0.0002	0.0002	0.0034	0.0033	2.99e-05	0.0005	0	0.0004	0	0.0003	9.895e-06	0.0003	0.0037	0.0001	0.0001	1.285e-05	0.0002	0.0033	8.165e-05	6.722e-05	0.0021	0.0017	4.813e-05	0	6.54e-05	0	0	0	0	0	0	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2139.94	110	chr6	24697932	.	TAGA	T	2139.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.840e-01;DP=817;ExcessHet=0.0000;FS=1.530;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.45;ReadPosRankSum=0.685;SOR=0.782	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr6	24797645	24797645	T	C	exonic	ARMH2	.	nonsynonymous SNV	ARMH2:NM_001282492:exon2:c.A458G:p.E153G,	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00643654671084	.	.	0.0004	0	0	0	.	0.0004	0	0.0004	2.59e-05	4	154602	rs754369554	0.0001	0.0001	9.705e-05	0.0001	0.0014	0.0001	0.0001	0.0007	0.0005	0.0002	0.0004	0.0004	2.799e-05	0	0.0014	8.529e-05	0.0002	0.0003	0.0002	0.0002	0.0002	0.0003	0.0016	0.0002	0.0001	0.0011	0.0009	2.405e-05	0	0.0016	0.0006	0	0	0.0034	7.351e-05	0	0.0004	0.03	0.45393	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	0.51952	T	-5.36	0.84811	D	0.11	0.09631	.	.	.	.	.	.	.	0.06699014	0.09269	T	0.006437	0.16956	T	.	.	.	.	0.591526896791	0.58829	0.1991145472718713	0.19828	.	.	.	.	.	0.086519	0.37743	T	-0.47835	0.00756	T	-0.584344	0.14160	T	.	.	.	0.323368	0.06588	T	0.20130898	0.42138	0.23354726	0.48547	0.20130898	0.42137	0.23354726	0.48546	-4.139	0.25863	T	.	.	0.164	0.36113	B	.	.	2.291072	0.29305	18.08	0.96652538825715284	0.30596	0.16418	0.19380	N	AEFBI	0.124112	0.24002	N	.	.	.	.	.	.	0.997548531848943	0.35740	0.554377	0.28877	0	0.588066	0.40923	0	0.527494	0.11647	0	0.564101	0.26826	0	.	.	5.95	4.79	0.60909	2.295000	0.43236	6.093000	0.53467	0.665000	0.62972	0.064000	0.21895	0.994000	0.32194	0.002000	0.04165	0.0:0.0788:0.0:0.9212	9.799	0.39918	772	0.48957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1570.98	37	chr6	24797645	.	T	C	1570.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.084e+00;DP=943;ExcessHet=0.0000;FS=0.589;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.94;ReadPosRankSum=0.243;SOR=0.642	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr6	24798844	24798844	C	T	exonic	ARMH2	.	nonsynonymous SNV	ARMH2:NM_001282492:exon1:c.G14A:p.R5Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00401149238556	.	0.000199681	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs572082431	1.737e-05	1.642e-05	2e-05	1.467e-05	0.0004	1.175e-05	9.87e-06	0.0002	0.0002	0.0004	5.633e-05	0	0	0	0	8.348e-06	1.73e-05	0	0.0001	0.0001	8.998e-05	0.0001	0.0004	7.576e-05	6.281e-05	0.0003	0.0002	0.0004	0	0	0	0	0	0	0	0	0	0.431	0.09514	T	0.421	0.14075	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.82	0.22508	N	0.045	0.01740	.	.	.	.	.	.	.	0.023615241	0.00623	T	0.004011	0.09525	T	.	.	.	.	0.0551355673512	0.04727	0.025849953066937447	0.02535	.	.	.	.	.	6.55E-4	0.00285	T	-0.650983	0.00071	T	-0.830137	0.01259	T	.	.	.	0.50185	0.15733	T	0.020356616	0.00591	0.028417818	0.01077	0.020356616	0.00591	0.028417818	0.01077	-3.99	0.23654	T	.	.	0.098	0.16099	B	.	.	-1.864211	0.00137	0.002	0.84655888707188498	0.15420	0.00279	0.01508	N	AEFDBI	0.024840	0.01602	N	.	.	.	.	.	.	0.999999723834817	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.63	-9.48	0.00498	-6.644000	0.00072	-7.195000	0.01210	-0.925000	0.02178	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.092:0.5886:0.1008:0.2186	6.250	0.20052	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	734.98	35	chr6	24798844	.	C	T	734.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=748;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.41;ReadPosRankSum=-4.150e-01;SOR=0.869	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1194	20	0	1	0
chr6	24842932	24842932	G	A	exonic	RIPOR2	.	nonsynonymous SNV	RIPOR2:NM_001286445:exon13:c.C1787T:p.P596L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.976	D	0.000	D	1.000	D	1.59	L	1.25	T	-0.911	T	0.157	T	0.555	4.308	22.6	5.65	2.660	5.812	19.713	0.263	0.0188296057029	.	.	9.092e-06	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs751801742	1.102e-05	1.3e-05	4.314e-06	1.802e-05	0.0002	6.62e-06	5.25e-06	0.0001	9.747e-05	0	0	0	0	0	0	0	1.788e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.78490	D	0.035	0.60337	D	0.997	0.77913	D	0.904	0.66815	P	0.000020	0.62929	D	0.158717	0.999998	0.58761	D	.	.	.	1.25	0.36512	T	-4.24	0.76015	D	0.407	0.45237	-0.9113	0.46694	T	0.157	0.48891	T	10	0.33134818	0.50358	T	0.01883	0.41019	T	0.263	0.57612	0.284	0.24121	0.305926609036	0.30200	0.20635524702440308	0.20552	0.940815711379	0.72194	0.451606929302	0.32163	T	0.025883	0.43670	T	-0.166108	0.25826	T	-0.22807	0.51959	T	0.764551043510437	0.44116	D	0.975102	0.91883	D	0.24496755	0.47451	0.22971335	0.48052	0.24496755	0.47451	0.22971335	0.48051	-0.938	0.14259	T	.	.	0.194	0.56383	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	4.685393	0.75020	26.3	0.99877707064922838	0.95410	0.97932	0.78226	D	AEFBI	0.764629	0.70136	D	0.661456899876703	0.77111	6.61242	0.658592852581074	0.79254	7.043319	0.999994786061584	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.564101	0.26826	0	.	.	5.65	5.65	0.86881	5.923000	0.69769	11.722000	0.94835	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.713	0.96100	750	0.51762	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1673.98	122	chr6	24842932	.	G	A	1673.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.75;DP=833;ExcessHet=0.0000;FS=0.664;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=-6.100e-01;SOR=0.762	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1297	20	0	1	0
chr6	24842956	24842956	T	G	exonic	RIPOR2	.	nonsynonymous SNV	RIPOR2:NM_001286445:exon13:c.A1763C:p.N588T	.	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.307	B	0.117	B	0.472	N	1.000	N	0	N	1.5	T	-1.000	T	0.015	T	0.091	0.681	7.642	-2.44	-0.421	0.647	11.180	0.030	0.00970253039019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.45e-06	1.368e-06	1.425e-06	1.477e-06	9.321e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.321e-07	1.764e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.50132	T	0.547	0.26226	T	0.089	0.32716	B	0.075	0.32014	B	0.472183	0.12264	N	0.804657	1	0.08975	N	.	.	.	1.5	0.31205	T	-1.35	0.33598	N	0.166	0.23758	-1.0002	0.29860	T	0.015	0.05849	T	10	0.053133816	0.05457	T	0.009703	0.25336	T	0.030	0.07022	0.299	0.26522	0.117191471859	0.11215	0.06789157172204004	0.06727	0.307147514716	0.33015	0.234472736716	0.02315	T	0.004725	0.12895	T	-0.269073	0.11861	T	-0.624281	0.10853	T	0.122550487018229	0.14677	T	0.916408	0.71859	D	0.044082332	0.06984	0.050278056	0.07858	0.044082332	0.06984	0.050278056	0.07857	-5.695	0.43649	T	.	.	0.071	0.23077	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	1.297159	0.16988	12.89	0.88421987137573022	0.17964	0.39539	0.26235	N	AEFBI	0.209983	0.33592	N	-0.869597642148016	0.11571	0.5591058	-0.850791545410368	0.13268	0.6873749	0.193595894749743	0.18030	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.564101	0.26826	0	.	.	5.65	-2.44	0.06126	0.642000	0.24426	0.004000	0.13336	0.665000	0.62972	0.224000	0.24579	0.000000	0.08366	0.991000	0.66497	0.0:0.4452:0.0:0.5548	11.180	0.47852	750	0.51762	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2348.98	38	chr6	24842956	.	T	G	2348.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.030e-01;DP=900;ExcessHet=0.0000;FS=2.489;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=0.515;SOR=0.732	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1297	20	0	1	0
chr6	25606189	25606189	C	T	exonic	CARMIL1	.	nonsynonymous SNV	CARMIL1:NM_001173977:exon35:c.C3745T:p.P1249S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	1.0	D	0.999	D	0.011	N	1.000	D	2.015	M	0.85	T	-0.789	T	0.248	T	0.536	4.715	26.2	5.85	2.753	4.881	20.165	0.176	0.0294604521229	.	.	.	.	.	.	.	.	.	.	.	.	.	rs972085978	3.421e-06	3.42e-06	1.361e-06	5.501e-06	4.497e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.028	0.54934	D	0.983	0.60381	D	0.659	0.52771	P	0.011032	0.29689	N	0.360567	1	0.81001	D	.	.	.	0.85	0.47130	T	-2.51	0.54546	D	0.354	0.39558	-0.7886	0.55811	T	0.248	0.61681	T	10	0.32523286	0.49837	T	0.02946	0.51963	D	0.176	0.44373	0.302	0.27003	0.386842465239	0.38294	0.35483330121469064	0.35397	0.312674147591	0.33571	0.459985256195	0.33308	T	0.23875	0.60672	T	-0.031988	0.47126	T	-0.283725	0.46421	T	0.935799121856689	0.60429	D	0.946905	0.79612	D	0.0852597	0.19770	0.12790383	0.30782	0.0852597	0.19770	0.12790383	0.30781	-4.62	0.32422	T	.	.	0.142	0.31228	B	.	.	3.336118	0.45945	22.2	0.99921339012170296	0.98787	0.98338	0.81774	D	AEFBI	0.622603	0.60686	D	0.66128394466272	0.77100	6.610287	0.678468920858752	0.80748	7.368211	0.999999999650159	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.85	5.85	0.93663	4.754000	0.61888	4.081000	0.41738	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.647000	0.32611	0.0:1.0:0.0:0.0	20.165	0.98148	612	0.66786	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	721.98	34	chr6	25606189	.	C	T	721.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.099e+00;DP=764;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.62;ReadPosRankSum=0.890;SOR=0.813	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,973	20	0	1	0
chr6	25701256	25701256	G	A	exonic	SCGN	.	nonsynonymous SNV	SCGN:NM_006998:exon11:c.G752A:p.R251H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.013	B	0.004	B	0.040	N	1.000	D	1.32	L	0.68	T	-1.071	T	0.054	T	0.039	2.697	14.98	4.56	1.266	2.120	9.614	0.060	.	0.0036	0.00539137	0.0012	0.0113	0.0016	0.0001	0	9.008e-05	0	0	0.0011837	183	154602	rs150785850	0.0004	0.0004	0.0004	0.0003	0.0094	0.0003	0.0003	0.0086	0.0083	0.0094	0.0016	0	0	0	0.0029	8.545e-05	0.0008	2.323e-05	0.0030	0.0030	0.0032	0.0028	0.0101	0.0027	0.0027	0.0093	0.0090	0.0101	0	0.0013	0.0003	0	0	0	0.0001	0.0014	0	0.062	0.36912	T	0.163	0.31125	T	0.013	0.16609	B	0.004	0.10090	B	0.040436	0.24059	N	0.485323	0.741307	0.81001	D	1.175	0.29870	L	0.68	0.51952	T	-1.66	0.39692	N	0.056	0.02759	-1.0709	0.09216	T	0.054	0.22959	T	10	0.008556098	0.00194	T	.	.	.	0.060	0.17295	.	.	0.41859458845	0.41473	0.304117569600805	0.30324	0.291961028145	0.31603	0.295809477568	0.09779	T	0.009357	0.08525	T	-0.615129	0.00118	T	-0.645336	0.09285	T	0.0204323412007538	0.00743	T	0.887611	0.61581	D	0.049074404	0.08656	0.047929056	0.07013	0.049074404	0.08656	0.047929056	0.07012	-5.439	0.41293	T	.	.	0.068	0.02639	B	.	.	3.118467	0.42087	21.5	0.99594474743464245	0.73807	0.82344	0.41586	D	AEFBHI	0.491158	0.52833	N	-0.135290454390933	0.35863	2.065382	0.0260133874785274	0.40926	2.450375	0.262359417582818	0.18804	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.43	4.56	0.55644	2.155000	0.41926	3.117000	0.36384	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.996000	0.76049	0.1631:0.0:0.8369:0.0	9.614	0.38846	646	0.63441	EF-hand domain|EF-hand domain|Secretagogin, EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1672.98	34	chr6	25701256	.	G	A	1672.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.317;DP=846;ExcessHet=0.0000;FS=1.985;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=-1.813e+00;SOR=0.858	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1314	20	0	1	0
chr6	25761998	25761998	-	T	exonic	SLC17A4	.	stopgain	SLC17A4:NM_005495:exon2:c.36_37insT:p.D13*,	.	.	432	1081	9	0	0	9	0.00414556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	.	0.0005	9.638e-05	0.0013	0	0.0002	0.0006	0.0022	6.113e-05	0.0004463	69	154602	rs754805517	0.0005	0.0005	0.0005	0.0005	0.0023	0.0005	0.0005	0.0013	0.0011	0.0001	0.0011	0.0028	0	5.617e-05	0.0023	0.0005	0.0008	0.0002	0.0006	0.0006	0.0006	0.0005	0.0016	0.0005	0.0004	0.0011	0.0010	2.407e-05	0	0.0016	0.0041	0.0002	0	0.0034	0.0006	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1703.94	34	chr6	25761998	.	G	GT	1703.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.251;DP=824;ExcessHet=0.0000;FS=0.678;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=-3.570e-01;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1307	20	0	1	0
chr6	25761999	25761999	G	T	exonic	SLC17A4	.	nonsynonymous SNV	SLC17A4:NM_005495:exon2:c.G37T:p.D13Y,	.	.	433	1080	9	0	0	9	0.00414938	.	.	2340078	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.976	D	0.731	P	0.001	N	1.000	N	0	N	-0.31	T	-0.843	T	0.176	T	0.154	1.560	11.17	-0.913	-0.194	0.471	5.993	0.229	0.0156294671014	.	.	0.0005	9.641e-05	0.0013	0	0.0002	0.0006	0.0022	6.116e-05	0.0004075	63	154602	rs143424660	0.0005	0.0005	0.0005	0.0005	0.0023	0.0005	0.0005	0.0013	0.0011	0.0001	0.0011	0.0028	0	5.617e-05	0.0023	0.0005	0.0008	0.0002	0.0006	0.0006	0.0006	0.0005	0.0016	0.0005	0.0004	0.0011	0.0010	2.406e-05	0	0.0016	0.0040	0.0002	0	0.0034	0.0006	0.0019	0.0002	0.008	0.58626	D	0.016	0.60972	D	0.958	0.54977	D	0.438	0.45631	B	0.001490	0.00791	N	3.473650	1	0.08975	N	0.345	0.11182	N	-0.31	0.68030	T	-2.9	0.60827	D	0.206	0.22870	-0.8428	0.52460	T	0.176	0.52037	T	10	0.01386109	0.00293	T	0.015629	0.36469	T	0.229	0.52916	.	.	0.37568098594	0.37176	0.42803958335129305	0.42720	0.135075783952	0.15223	0.268635213375	0.05964	T	0.149937	0.48918	T	-0.428246	0.01519	T	-0.469706	0.25548	T	0.0681280327577997	0.08387	T	0.493751	0.15260	T	0.09663421	0.22764	0.11942261	0.28824	0.09663421	0.22764	0.11942261	0.28824	-6.022	0.46464	T	.	.	0.082	0.08899	B	.	.	1.895600	0.24075	16.26	0.82494463703240095	0.14222	0.04367	0.09940	N	AEFBI	0.091053	0.18447	N	-0.635765753794114	0.17878	0.9236793	-0.804943136868292	0.14376	0.7508268	6.23045122054681E-4	0.07482	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.23	-0.913	0.09966	0.480000	0.21954	1.514000	0.27045	0.676000	0.76740	0.000000	0.06391	0.002000	0.18203	0.017000	0.10941	0.1887:0.4711:0.3402:0.0	5.993	0.18706	606	0.67383	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1703.98	34	chr6	25761999	.	G	T	1703.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.200e-02;DP=823;ExcessHet=0.0000;FS=0.678;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=-4.680e-01;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1307	20	0	1	0
chr6	25762001	25762001	C	A	exonic	SLC17A4	.	nonsynonymous SNV	SLC17A4:NM_005495:exon2:c.C39A:p.D13E,	.	.	432	1081	9	0	0	9	0.00414556	.	.	2340079	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.03	B	0.031	B	0.001	N	1.000	N	0	N	-0.16	T	-1.037	T	0.042	T	0.026	-1.457	0.019	-8.46	-2.446	-1.300	4.559	0.041	0.0047206888041	.	.	0.0005	9.639e-05	0.0013	0	0.0002	0.0006	0.0022	6.118e-05	0.0004075	63	154602	rs150942022	0.0005	0.0005	0.0005	0.0005	0.0023	0.0005	0.0005	0.0013	0.0011	0.0001	0.0011	0.0028	0	5.617e-05	0.0023	0.0005	0.0008	0.0002	0.0006	0.0006	0.0006	0.0005	0.0016	0.0005	0.0004	0.0011	0.0010	2.407e-05	0	0.0016	0.0041	0.0002	0	0.0034	0.0006	0.0019	0.0002	0.703	0.04134	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.001490	0.00791	N	3.473650	1	0.08975	N	0.345	0.11182	N	-0.16	0.65378	T	-0.13	0.08971	N	0.108	0.09349	-1.0368	0.18295	T	0.042	0.18118	T	10	0.006346971	0.00143	T	0.004721	0.11753	T	0.041	0.10877	0.305	0.27485	0.137902524267	0.13322	0.05126253807932022	0.05068	0.0685600842673	0.07678	0.259500771761	0.04832	T	0.015135	0.12752	T	-0.602972	0.00140	T	-0.720688	0.04762	T	0.00904730794126588	0.00113	T	0.29617	0.05481	T	0.026142983	0.01635	0.022645758	0.00285	0.026142983	0.01635	0.022645758	0.00285	-3.348	0.14364	T	.	.	0.098	0.16275	B	.	.	-1.117574	0.00620	0.016	0.28101542504643928	0.01427	0.00787	0.03223	N	AEFBI	0.061203	0.11685	N	-2.06775497969595	0.00151	0.006451039	-2.13961945000669	0.00153	0.006711604	0.986420855573553	0.31061	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.23	-8.46	0.00822	-1.308000	0.02839	-3.557000	0.02697	-1.555000	0.00957	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1351:0.5029:0.1022:0.2597	4.559	0.11548	606	0.67383	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1703.98	34	chr6	25762001	.	C	A	1703.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.175;DP=821;ExcessHet=0.0000;FS=0.678;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=-6.980e-01;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1307	20	0	1	0
chr6	25855176	25855176	G	A	exonic	SLC17A3	.	nonsynonymous SNV	SLC17A3:NM_006632:exon5:c.C446T:p.T149I	.	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.589	P	0.459	P	0.784	N	1.000	N	1.955	M	0.43	T	-0.966	T	0.088	T	0.258	2.310	13.68	2.04	0.309	-0.275	3.992	0.050	0.015075724564	0.0020	0.000998403	0.0005	0.0044	0.0006	0	0	0.0001	0	0	0.0004528	70	154602	rs116645668	0.0003	0.0003	0.0003	0.0002	0.0064	0.0003	0.0002	0.0057	0.0054	0.0064	0.0007	0	0	0	0.0024	0.0001	0.0005	3.48e-05	0.0015	0.0015	0.0016	0.0014	0.0049	0.0013	0.0013	0.0044	0.0041	0.0049	0	0.0007	0	0	0	0.0034	0.0001	0.0005	0	0.022	0.48642	D	0.029	0.54541	D	0.589	0.39027	P	0.405	0.44649	B	0.784462	0.06674	N	1.124900	1	0.08975	N	1.895	0.50365	L	0.43	0.56772	T	-2.81	0.59389	D	0.144	0.14480	-0.9662	0.37974	T	0.088	0.34105	T	10	0.01483652	0.00312	T	0.015076	0.35602	T	0.050	0.13987	.	.	0.583804852878	0.58053	0.18711108016606656	0.18629	0.0920125637345	0.10386	0.351244866848	0.18105	T	0.308274	0.68038	T	-0.47393	0.00804	T	-0.453141	0.27351	T	0.0310626683885867	0.02156	T	0.451055	0.37774	T	0.079651356	0.18209	0.11888773	0.28697	0.079651356	0.18208	0.11888773	0.28696	-5.626	0.43029	T	.	.	0.111	0.30211	B	.;.;.	.;.;.	1.048298	0.14294	10.87	0.99471567859222332	0.66365	0.02863	0.07630	N	AEFI	0.101139	0.20321	N	-0.59293698564262	0.19159	1.000491	-0.726583690131666	0.16300	0.8616366	0.00153557738942595	0.08622	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.05	2.04	0.25787	0.001000	0.12940	0.036000	0.13800	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.245000	0.23132	0.1447:0.0:0.6272:0.2281	3.992	0.09030	547	0.72440	.;Major facilitator superfamily domain;Major facilitator superfamily domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	657.98	34	chr6	25855176	.	G	A	657.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.610e-01;DP=768;ExcessHet=0.0000;FS=2.067;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=-1.321e+00;SOR=0.663	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1102	20	0	1	0
chr6	25861983	25861983	C	T	exonic	SLC17A3	.	nonsynonymous SNV	SLC17A3:NM_001098486:exon4:c.G350A:p.G117D,	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.976	D	0.952	D	.	.	1.000	N	2.795	M	0.29	T	-0.866	T	0.237	T	0.214	1.340	10.40	0.663	0.106	0.792	6.659	0.159	0.0248396551696	7.9e-05	.	0.0001	0	0	0	0	5.71e-05	0	0.0005	6.47e-05	10	154602	rs376483140	0.0001	0.0001	0.0001	0.0002	0.0007	0.0001	0.0001	0.0003	0.0002	5.98e-05	0	0	0	0	0.0007	0.0001	8.29e-05	0.0004	6.575e-05	6.567e-05	8.997e-05	4.038e-05	0.0004	3.519e-05	2.618e-05	7.296e-05	3.031e-05	4.83e-05	0	0	0	0	0	0	8.821e-05	0	0.0004	0.001	0.78490	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.29	0.58897	T	-0.92	0.24676	N	0.666	0.67477	-0.8664	0.50798	T	0.237	0.60415	T	9	0.5032596	0.61671	D	0.02484	0.47825	T	0.159	0.41286	.	.	0.31077124679	0.30691	0.698621310130499	0.69803	0.135011463616	0.15216	0.287032544613	0.08491	T	.	.	.	-0.377804	0.03216	T	-0.462393	0.26338	T	0.188865751028061	0.19777	T	0.708429	0.31914	T	.	.	.	.	.	.	.	.	-13.18	0.90090	D	.	.	0.804	0.77452	P	.	.	2.503182	0.32318	19.01	0.99406058455332746	0.63028	0.04708	0.10398	N	AEFBI	0.118049	0.23099	N	-0.255219070110164	0.30896	1.727086	-0.533050330275576	0.21258	1.149138	0.00461435799948272	0.10641	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.58	0.663	0.17054	1.004000	0.29423	1.737000	0.28371	-0.178000	0.10482	0.005000	0.17040	0.010000	0.20010	0.071000	0.16709	0.1934:0.43:0.3766:0.0	6.659	0.22193	551	0.72115	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1629.98	34	chr6	25861983	.	C	T	1629.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.35;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.30;ReadPosRankSum=0.844;SOR=0.658	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1464	20	0	1	0
chr6	25966838	25966838	G	A	exonic	TRIM38	.	nonsynonymous SNV	TRIM38:NM_006355:exon3:c.G316A:p.D106N,	.	.	424	1094	4	0	0	4	0.00182482	.	.	2439955	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.215	B	0.206	B	0.000	D	1.000	N	1.41	L	0.88	T	-1.044	T	0.044	T	0.041	2.128	13.07	2.59	0.784	2.690	6.624	0.089	0.0134416397057	.	.	3.3e-05	0	0	0	0	4.503e-05	0.0011	0	2.59e-05	4	154602	rs761564484	3.01e-05	3.01e-05	2.722e-05	3.3e-05	0.0009	2.281e-05	2.032e-05	0.0003	0.0002	0	8.944e-05	0	0	0	0.0009	2.248e-05	1.656e-05	0.0001	6.571e-06	6.567e-06	1.284e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.056	0.38185	T	0.081	0.41742	T	0.215	0.30128	B	0.206	0.37138	B	0.000474	0.44119	D	0.000000	0.999993	0.08975	N	1.505	0.38159	L	0.88	0.46028	T	-2.31	0.51319	N	0.207	0.22998	-1.0439	0.16148	T	0.044	0.18906	T	10	0.16359362	0.30629	T	0.013442	0.32845	T	0.089	0.25827	0.645	0.78224	0.538745750885	0.53527	0.28908407555307297	0.28821	0.56137818192	0.52642	0.428974866867	0.29069	T	0.025757	0.19196	T	-0.420321	0.01702	T	-0.638884	0.09751	T	0.152841597795486	0.17328	T	0.726327	0.34071	T	0.17217435	0.37894	0.08362315	0.19179	0.17217435	0.37893	0.08362315	0.19178	-7.522	0.57765	D	.	.	0.135	0.29200	B	.	.	2.750302	0.36045	20.1	0.99641333881479466	0.76695	0.60758	0.31288	D	AEFDBCI	0.147949	0.27174	N	-0.299411087276186	0.29171	1.61534	-0.29219710068679	0.28355	1.580367	0.999987603899676	0.51787	0.722319	0.85440	0	0.672317	0.65289	0	0.675528	0.61593	0	0.735409	0.98432	0	.	.	4.37	2.59	0.30091	2.597000	0.45878	2.971000	0.35798	0.618000	0.50648	0.994000	0.38300	0.999000	0.35428	0.493000	0.28859	0.2126:0.0:0.7874:0.0	6.624	0.22011	505	0.75648	B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2164.98	34	chr6	25966838	.	G	A	2164.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=880;ExcessHet=0.0000;FS=1.954;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.20;ReadPosRankSum=0.541;SOR=0.544	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1066	20	0	1	0
chr6	25971951	25971951	A	G	exonic	TRIM38	.	nonsynonymous SNV	TRIM38:NM_006355:exon5:c.A590G:p.Y197C,	.	.	428	1085	9	0	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.002	B	0.003	B	0.001	N	1.000	N	1.445	L	3.54	T	-0.936	T	0.006	T	0.169	-0.649	1.144	0.317	0.067	0.478	7.089	0.050	0.00664486824781	0.0006	0.000599042	0.0012	0.0002	0.0003	0.0001	0.0008	0.0017	0	0.0010	0.0010867	168	154602	rs150462702	0.0010	0.0010	0.0009	0.0010	0.0062	0.0009	0.0009	0.0046	0.0041	8.961e-05	0.0005	0.0031	0	0.0016	0.0062	0.0009	0.0010	0.0010	0.0008	0.0008	0.0008	0.0009	0.0013	0.0007	0.0007	0.0010	0.0010	9.62e-05	0	0.0005	0.0012	0	0.0015	0	0.0013	0.0019	0.0008	0.176	0.22312	T	0.117	0.36365	T	0.002	0.09854	B	0.003	0.08700	B	0.001106	0.40219	N	0.000000	1	0.08975	N	1.64	0.41913	L	3.54	0.04799	T	-2.82	0.59545	D	0.167	0.17691	-0.9365	0.43164	T	0.006	0.01870	T	10	0.009574503	0.00216	T	0.006645	0.17529	T	0.050	0.13987	.	.	0.236890367714	0.23314	0.2697650080382905	0.26889	0.350473466732	0.36889	0.323558747768	0.13960	T	0.016251	0.13471	T	-0.555173	0.00272	T	-0.605622	0.12342	T	0.0118776766549711	0.00185	T	0.691431	0.30091	T	0.10090055	0.23830	0.094931945	0.22492	0.10090055	0.23830	0.094931945	0.22491	-6.609	0.51122	T	.	.	0.103	0.18247	B	.	.	1.010684	0.13896	10.45	0.33215808067771457	0.01967	0.07187	0.13212	N	AEFDBCI	0.082419	0.16688	N	-0.916368789543969	0.10459	0.4999079	-0.98132695783854	0.10205	0.5124955	0.999584354413029	0.40607	0.645754	0.44609	0	0.696144	0.67643	0	0.658983	0.55881	0	0.591603	0.36755	0	.	.	4.55	0.317	0.15106	0.798000	0.26674	-0.207000	0.10889	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.280000	0.24017	0.7188:0.0:0.2812:0.0	7.089	0.24450	491	0.76657	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1210.98	34	chr6	25971951	.	A	G	1210.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.861e+00;DP=817;ExcessHet=0.0000;FS=2.559;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=1.08;SOR=0.481	GT:AD:DP:GQ:PL	0/1:50,52:102:99:1225,0,1290	20	0	1	0
chr6	26017608	26017608	G	A	exonic	H1-1	.	nonsynonymous SNV	H1-1:NM_005325:exon1:c.C125T:p.S42F,	.	.	428	1083	11	0	0	11	0.00505282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.995	D	0.005	N	1.000	D	3.525	H	1.76	T	-0.644	T	0.173	T	0.707	3.218	16.78	4.2	2.260	1.792	11.914	0.246	.	0.0004	0.00519169	0.0031	0	0.0011	0.0020	0	0.0005	0	0.0185	0.0027749	429	154602	rs117409123	0.0015	0.0015	0.0010	0.0021	0.0199	0.0015	0.0015	0.0191	0.0188	2.987e-05	0.0011	0.0019	0.0020	1.872e-05	0.0036	0.0002	0.0021	0.0199	0.0011	0.0011	0.0008	0.0015	0.0232	0.0010	0.0009	0.0197	0.0184	0.0001	0	0.0004	0.0009	0.0039	0	0.0034	0.0003	0.0019	0.0232	0.004	0.65419	D	0.023	0.57104	D	0.999	0.77913	D	0.995	0.83170	D	0.005132	0.33071	N	0.303017	0.999696	0.48338	D	3.655	0.94224	H	1.76	0.25996	T	-4.73	0.80085	D	0.63	0.64393	-0.6444	0.62957	T	0.173	0.51548	T	10	0.011164337	0.00245	T	.	.	.	0.246	0.55340	.	.	0.465975295344	0.46225	0.4152561661665899	0.41441	.	.	0.565297365189	0.48014	T	0.436153	0.78264	T	-0.23248	0.16323	T	-0.0924373	0.63978	T	0.0975846548426396	0.12089	T	0.907509	0.67274	D	0.714415	0.78851	0.70422626	0.82566	0.714415	0.78853	0.70422626	0.82567	-11.151	0.80479	D	.	.	0.844	0.79468	P	.	.	3.952823	0.57923	23.9	0.99579891445651514	0.72921	0.52608	0.29172	D	ALL	0.221011	0.34569	N	0.274098392782029	0.54840	3.648676	0.0141882615851617	0.40373	2.408363	0.999999999725645	0.74766	0.378867	0.05890	3	0.587068	0.34093	0	0.166054	0.03999	2	0.56214	0.19341	0	.	.	4.2	4.2	0.48814	2.184000	0.42205	9.227000	0.79333	0.676000	0.76740	0.703000	0.28654	1.000000	0.68203	0.002000	0.04165	0.0:0.294:0.706:0.0	11.914	0.52035	479	0.77495	Linker histone H1/H5, domain H15|Linker histone H1/H5, domain H15|Linker histone H1/H5, domain H15|Linker histone H1/H5, domain H15	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2115.98	34	chr6	26017608	.	G	A	2115.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.141e+00;DP=963;ExcessHet=0.0000;FS=2.496;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.08;ReadPosRankSum=0.275;SOR=0.529	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr6	26055825	26055825	C	T	exonic	H1-2	.	nonsynonymous SNV	H1-2:NM_005319:exon1:c.G604A:p.V202I,	.	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.025	B	0.022	B	0.253	N	0.820	D	0	N	2.37	T	-0.984	T	0.010	T	0.398	3.367	17.35	4.42	1.337	0.584	14.566	0.084	0.00370373706544	0.0024	0.00139776	0.0007	0.0071	0.0007	0	0	6.002e-05	0	0	0.0006274	97	154602	rs140525474	0.0002	0.0002	0.0003	0.0002	0.0065	0.0002	0.0002	0.0058	0.0055	0.0065	0.0006	0	5.04e-05	0	0.0012	4.14e-05	0.0004	3.499e-05	0.0020	0.0020	0.0021	0.0020	0.0069	0.0018	0.0018	0.0062	0.0059	0.0069	0	0.0010	0	0.0002	0	0	8.82e-05	0.0014	0	0.317	0.13699	T	0.059	0.45961	T	0.025	0.19245	B	0.022	0.19653	B	0.253035	0.15469	N	0.594745	0.819616	0.34757	D	1.81	0.47622	L	2.37	0.15964	T	-0.34	0.12661	N	0.322	0.36254	-0.9840	0.34069	T	0.010	0.03856	T	10	0.003214866	0.00055	T	0.003704	0.08558	T	0.084	0.24469	.	.	0.222439326576	0.21863	0.0017956464967741489	0.00166	.	.	0.295656532049	0.09754	T	0.199444	0.55673	T	-0.503109	0.00549	T	-0.491173	0.23268	T	0.0230919841064247	0.01035	T	0.309669	0.06003	T	0.06657746	0.14337	0.089286126	0.20871	0.06657746	0.14336	0.089286126	0.20870	-7.45	0.57258	T	.	.	0.103	0.18456	B	.	.	2.287425	0.29252	18.06	0.99317623973832181	0.59241	0.02326	0.06662	N	AEFDBHCIJ	0.440491	0.49903	N	-0.587847866481327	0.19312	1.009783	-0.434321341295746	0.23996	1.311653	0.999999999999994	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	5.31	4.42	0.52775	0.544000	0.22960	0.030000	0.13718	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.978000	0.57271	0.1475:0.8524:0.0:0.0	14.566	0.67768	455	0.79073	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	777.98	43	chr6	26055825	.	C	T	777.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.100e-02;DP=765;ExcessHet=0.0000;FS=0.950;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=0.128;SOR=0.954	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1183	20	0	1	0
chr6	26056058	26056058	C	G	exonic	H1-2	.	nonsynonymous SNV	H1-2:NM_005319:exon1:c.G371C:p.G124A,	.	.	432	1082	8	0	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.005	N	0.623	D	0	N	2.62	T	-0.989	T	0.006	T	0.168	-1.261	0.048	4.55	2.728	2.513	12.495	0.088	.	0.0049	0.00758786	0.0032	0.0128	0.0023	0.0098	0	0.0017	0.0011	0.0018	0.0032665	505	154602	rs12111009	0.0030	0.0030	0.0030	0.0030	0.0364	0.0029	0.0029	0.0348	0.0342	0.0128	0.0030	0.0023	0.0364	0.0001	0.0126	0.0016	0.0035	0.0027	0.0053	0.0053	0.0055	0.0050	0.0124	0.0050	0.0048	0.0115	0.0112	0.0124	0.0274	0.0029	0.0017	0.0116	9.42e-05	0.0102	0.0018	0.0071	0.0027	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.005295	0.32928	N	0.289576	0.622772	0.32720	D	1.435	0.35949	L	2.62	0.12988	T	0.58	0.02598	N	0.204	0.22614	-0.9890	0.32853	T	0.006	0.02055	T	10	0.0044905543	0.00092	T	.	.	.	0.088	0.25558	.	.	0.3571064206	0.35317	0.018359074931310768	0.01789	.	.	0.357438147068	0.19012	T	0.077147	0.35587	T	-0.588203	0.00172	T	-0.606658	0.12259	T	0.0205114968150796	0.00751	T	0.458254	0.13193	T	0.09033513	0.21136	0.092658795	0.21848	0.09033513	0.21135	0.092658795	0.21847	-1.335	0.01458	T	.	.	0.072	0.04159	B	.	.	1.488131	0.19146	14.11	0.56959949466811632	0.05665	0.02067	0.06161	N	ALL	0.196731	0.32369	N	-0.506627704389623	0.21864	1.163498	-0.303452269170061	0.27987	1.556998	0.999999999999987	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	5.47	4.55	0.55429	4.109000	0.57562	3.158000	0.36555	0.599000	0.40250	0.555000	0.27385	0.438000	0.24889	0.004000	0.06068	0.0:0.6561:0.3439:0.0	12.495	0.55265	455	0.79073	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	650.98	43	chr6	26056058	.	C	G	650.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.265;DP=903;ExcessHet=0.0000;FS=3.191;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.14;ReadPosRankSum=0.422;SOR=1.077	GT:AD:DP:GQ:PL	0/0:59,0:59:99:0,120,1800	20	0	1	0
chr6	26188767	26188767	A	C	exonic	H4C4	.	stoploss	H4C4:NM_003539:exon1:c.T310G:p.X104G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	1.784	11.92	5.32	2.017	8.784	14.458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.185	0.20129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0513206	0.44248	T	-0.311495	0.43497	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.539477	0.19741	14.42	0.79942243482908859	0.12972	0.99331	0.94604	D	ALL	.	.	.	0.988777812975529	0.95389	13.57317	0.783309440780383	0.88609	9.647005	1.0	0.98316	0.046548	0.00263	1	0.073863	0.01883	0	0.03606	0.00165	1	0.088244	0.02422	0	0.946997	0.61222	5.32	5.32	0.75377	8.774000	0.91408	10.054000	0.83194	0.750000	0.87069	1.000000	0.71638	0.994000	0.32194	0.033000	0.13494	1.0:0.0:0.0:0.0	14.458	0.67005	675	0.60470	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03846	162.0	34	chr6	26188767	.	A	C	162.0	.	AC=1;AF=0.038;AN=26;BaseQRankSum=-2.939e+00;DP=2184;ExcessHet=0.0000;FS=186.849;InbreedingCoeff=-0.1464;MLEAC=2;MLEAF=0.077;MQ=60.00;MQRankSum=0.00;QD=1.02;ReadPosRankSum=0.957;SOR=6.932	GT:AD:DP:GQ:PL	./.:138,0:138:0:0,0,3624	12	0	1	8
chr6	26246827	26246827	T	C	exonic	H4C7	.	nonsynonymous SNV	H4C7:NM_003547:exon1:c.A151G:p.I51V,	.	.	245	1275	1	1	0	3	0.00117509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.554	P	0.498	P	.	.	0.771	N	.	.	-0.21	T	-0.794	T	0.199	T	0.337	0.412	6.239	3.2	1.444	7.260	11.485	0.257	0.00561140992139	7.7e-05	.	9.899e-05	0	8.649e-05	0	0	0.0002	0	0	9.06e-05	14	154602	rs370289402	8.482e-05	8.482e-05	7.759e-05	9.213e-05	0.0031	7.208e-05	6.796e-05	0.0020	0.0017	2.987e-05	0.0001	0	0	3.744e-05	0.0031	7.554e-05	0.0002	2.319e-05	5.254e-05	5.25e-05	1.285e-05	9.401e-05	5.882e-05	2.556e-05	1.829e-05	1.972e-05	1.125e-05	2.405e-05	0	0	0	0	9.423e-05	0	5.882e-05	0.0009	0	.	.	.	0.2	0.27591	T	0.554	0.38213	P	0.498	0.47596	P	.	.	.	.	0.770794	0.29439	N	.	.	.	.	.	.	.	.	.	0.69	0.69562	-0.7940	0.55496	T	0.199	0.55428	T	8	0.60625887	0.67192	D	0.005611	0.14500	T	.	.	.	.	0.331365685468	0.32749	0.7084170325332151	0.70783	.	.	0.783801198006	0.79503	T	0.040973	0.25705	T	-0.163879	0.26165	T	-0.218131	0.52917	T	0.554163575172424	0.34634	D	0.889711	0.62218	D	0.037622247	0.04859	0.19775744	0.43573	0.037622247	0.04859	0.19775744	0.43572	-6.3	0.48722	T	.	.	0.109	0.20896	B	.	.	3.126746	0.42236	21.5	0.64738052892727371	0.07576	0.93955	0.59679	D	AEDBI	0.815623	0.73755	D	0.0613427024487895	0.44666	2.736497	0.0221758741841299	0.40745	2.436711	0.99999993117054	0.74766	0.428477	0.06694	0	0.514364	0.08380	0	0.514364	0.09456	0	0.613276	0.41899	0	.	.	3.2	3.2	0.35826	7.359000	0.78737	3.558000	0.39076	0.560000	0.28382	1.000000	0.71638	1.000000	0.68203	0.003000	0.05239	0.0:0.0:0.0:1.0	11.485	0.49594	712	0.56465	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2601.98	35	chr6	26246827	.	T	C	2601.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.234e+00;DP=941;ExcessHet=0.0000;FS=0.996;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.98;ReadPosRankSum=0.922;SOR=0.620	GT:AD:DP:GQ:PL	0/1:129,108:237:99:2616,0,3486	20	0	1	0
chr6	26285205	26285206	AA	-	exonic	H4C8	.	frameshift deletion	H4C8:NM_003543:exon1:c.294_295del:p.Y99Rfs*26,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.714e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs775104854	1.728e-05	1.779e-05	1.918e-05	1.534e-05	0.0003	1.186e-05	1.002e-05	6.137e-05	2.538e-05	0	2.257e-05	0	0	0	0.0003	1.818e-05	1.677e-05	1.167e-05	2.626e-05	2.625e-05	3.855e-05	1.343e-05	0.0002	8.14e-06	5.14e-06	7.97e-06	2.98e-06	4.81e-05	0	0	0	0.0002	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4619.94	41	chr6	26285204	.	TAA	T	4619.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.503;DP=1059;ExcessHet=0.0000;FS=1.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.49;ReadPosRankSum=-1.292e+00;SOR=0.822	GT:AD:DP:GQ:PL	0/1:118,119:237:99:4634,0,4562	20	0	1	0
chr6	26405959	26405959	G	A	exonic	BTN3A1	.	nonsynonymous SNV	BTN3A1:NM_001145008:exon3:c.G136A:p.E46K	.	.	425	1091	6	0	0	6	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.999	D	0.996	D	.	.	1.000	N	1.695	L	4.04	T	-0.991	T	0.010	T	0.235	3.551	18.11	-1.02	-0.280	0.301	2.072	0.030	.	.	0.00179712	0.0017	0	0.0002	0.0002	0	6.02e-05	0.0011	0.0123	0.0014424	223	154602	rs564000550	0.0009	0.0009	0.0005	0.0013	0.0142	0.0009	0.0008	0.0136	0.0133	0	2.35e-05	0	0.0001	0	0.0009	2.616e-05	0.0009	0.0142	0.0004	0.0004	0.0002	0.0005	0.0104	0.0003	0.0003	0.0081	0.0073	4.826e-05	0	0	0	0.0002	0	0.0034	4.41e-05	0	0.0104	0.364	0.42487	T	0.007	0.70582	D	0.068	0.26641	B	0.064	0.29270	B	.	.	.	.	1	0.08975	N	1.76	0.45711	L	4.04	0.03121	T	-1.87	0.60827	N	0.112	0.20129	-0.9912	0.32295	T	0.010	0.03856	T	9	0.006637186	0.00150	T	.	.	.	0.030	0.07022	.	.	0.263140351381	0.25927	0.5319193161700891	0.53116	0.646648351517	0.58073	0.386672407389	0.23199	T	0.006097	0.05539	T	-0.577029	0.00201	T	-0.590607	0.13614	T	0.036023576240025	0.02985	T	0.890711	0.67446	D	0.11151186	0.26351	0.07448187	0.16297	0.11151186	0.26350	0.07448187	0.16297	-6.86	0.53447	T	.	.	0.093	0.21950	B	.;.;.;.;.;.	.;.;.;.;.;.	1.516559	0.19477	14.28	0.99689232570207986	0.79842	0.03079	0.07995	N	AEFBI	0.059188	0.11158	N	-0.876245709188363	0.11410	0.5504432	-1.02213968921651	0.09299	0.4618472	0.999448181620557	0.39736	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	2.21	-1.02	0.09618	0.561000	0.23220	0.418000	0.18188	-0.117000	0.14459	0.000000	0.06391	0.000000	0.08366	0.596000	0.31288	0.3356:0.0:0.4086:0.2558	2.072	0.03396	684	0.59539	.;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin V-set domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	5189.98	112	chr6	26405959	.	G	A	5189.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.549e+00;DP=2192;ExcessHet=0.0000;FS=1.742;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.69;MQRankSum=-8.190e-01;QD=12.78;ReadPosRankSum=0.396;SOR=0.696	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr6	26409697	26409697	G	C	exonic	BTN3A1	.	nonsynonymous SNV	BTN3A1:NM_001145008:exon5:c.G724C:p.A242P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.986	D	0.744	P	.	.	1.000	N	1.15	L	3.85	T	-1.095	T	0.061	T	0.234	0.622	7.347	0.273	0.073	0.301	3.393	0.046	0.00134181941872	.	.	8.743e-06	0	0	0	0	1.542e-05	0	0	6.5e-06	1	154602	rs376287137	3.491e-06	4.788e-06	0	7.026e-06	0.0004	1.02e-06	7.4e-07	6.303e-05	2.6e-05	0	2.619e-05	0	0	0	0.0004	9.087e-07	1.698e-05	0	1.315e-05	1.313e-05	1.285e-05	1.345e-05	0.0001	2.18e-06	8.2e-07	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	0	0	0	0.164	0.29420	T	0.249	0.27503	T	0.974	0.61523	D	0.564	0.55835	P	.	.	.	.	1	0.08975	N	2.015	0.55033	M	3.85	0.49642	T	-2.09	0.49352	N	0.148	0.32259	-1.0946	0.04810	T	0.061	0.25492	T	9	0.124815166	0.23712	T	0.001342	0.01910	T	0.046	0.12618	0.375	0.38830	0.637655256123	0.63467	0.25975358992277564	0.25889	0.182724254925	0.20545	0.426080346107	0.28672	T	0.006985	0.06413	T	-0.271467	0.11593	T	-0.520063	0.20287	T	0.07027001386202	0.08689	T	0.666933	0.27600	T	0.2055484	0.42700	0.16220225	0.37689	0.2055484	0.42700	0.16220225	0.37688	-5.606	0.47671	T	.	.	0.272	0.55978	B	.;.;.;.	.;.;.;.	1.096931	0.14809	11.35	0.97113482701485765	0.32422	0.01731	0.05474	N	AEFGBI	0.078475	0.15833	N	-0.608553304127895	0.18686	0.9721518	-0.855534515222389	0.13155	0.6808737	0.999852620953342	0.44174	0.706548	0.73137	0	0.724815	0.89359	0	0.584781	0.30282	0	0.655142	0.61905	0	.	.	1.18	0.273	0.14903	0.075000	0.14547	-0.117000	0.11764	0.672000	0.70159	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2839:0.0:0.7161:0.0	3.393	0.06873	680	0.59965	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1764.98	36	chr6	26409697	.	G	C	1764.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.21;DP=837;ExcessHet=0.0000;FS=2.089;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=2.09;SOR=0.859	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr6	26445783	26445783	G	A	exonic	BTN3A3	.	stopgain	BTN3A3:NM_006994:exon5:c.G513A:p.W171X	.	.	427	1030	62	3	0	68	0.0319549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	3.912	19.89	2.21	0.602	3.830	8.753	.	.	0.0042	0.00379393	0.0067	0.0002	0.0039	0.0017	0.0036	0.0091	0.0077	0.0068	0.006106	944	154602	rs138065289	0.0049	0.0049	0.0047	0.0050	0.0272	0.0048	0.0047	0.0237	0.0224	0.0006	0.0046	0.0438	0.0011	0.0034	0.0272	0.0039	0.0079	0.0061	0.0050	0.0050	0.0048	0.0052	0.0073	0.0047	0.0046	0.0054	0.0052	0.0008	0	0.0050	0.0404	0.0031	0.0022	0.0272	0.0059	0.0132	0.0073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.107	0.10911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.119179	0.33259	T	0.0617223	0.74359	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;.;.;.	High;.;.;.;.	7.640204	0.96718	36	0.95603367325376121	0.27344	0.70695	0.34698	D	AEFGBI	0.038152	0.05356	N	0.0775164942074517	0.45414	2.79844	-0.223272580553909	0.30704	1.731077	0.999951148205625	0.48110	0.638212	0.43195	0	0.601644	0.50151	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	3.1	2.21	0.27042	5.237000	0.65185	3.462000	0.38521	0.526000	0.24426	1.000000	0.71638	0.890000	0.27818	0.458000	0.28074	0.0:0.2347:0.7652:0.0	8.753	0.33788	671	0.60868	Immunoglobulin-like domain;.;.;Immunoglobulin-like domain;Immunoglobulin-like domain	.	.	.	.	rs138065289	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	4537.98	88	chr6	26445783	.	G	A	4537.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.13;DP=1487;ExcessHet=0.0000;FS=0.850;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.98;MQRankSum=1.06;QD=14.05;ReadPosRankSum=0.409;SOR=0.748	GT:AD:DP:GQ:PL	0/0:95,0:95:99:0,120,1800	20	0	1	0
chr6	26458701	26458701	T	A	exonic	BTN2A1	.	nonsynonymous SNV	BTN2A1:NM_001197234:exon2:c.T65A:p.L22Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.93	P	0.564	P	0.880	N	1.000	N	2.76	M	-0.82	T	-0.631	T	0.341	T	0.466	2.294	13.63	-2.59	-0.524	-0.057	4.006	0.429	0.0783668730078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.574e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.026	0.46910	D	0.027	0.76473	D	0.93	0.51791	P	0.483	0.47159	P	0.879544	0.07226	N	1.096500	1	0.08975	N	3.205	0.89189	M	-0.82	0.81318	T	-2.18	0.54864	N	0.44	0.57348	-0.6307	0.63541	T	0.341	0.70721	T	10	0.42795688	0.57300	T	0.078367	0.72989	D	0.429	0.73590	0.555	0.67271	0.578230335649	0.57492	0.4485233774189132	0.44770	0.298700661249	0.32248	0.341032385826	0.16593	T	0.011326	0.10120	T	0.0192167	0.54277	T	-0.210173	0.53679	T	0.461119383573532	0.31206	T	0.847215	0.52823	T	0.13195494	0.30741	0.14021261	0.33430	0.13195494	0.30741	0.14021261	0.33429	-6.617	0.51183	T	.	.	0.113	0.28261	B	.;.;.	.;.;.	2.062178	0.26218	17.04	0.97318544975507326	0.33365	0.03273	0.08313	N	AEFDGBHCI	0.041468	0.06309	N	-0.505589248458141	0.21898	1.165535	-0.810421965312858	0.14243	0.7432285	0.999991594296856	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	3.03	-2.59	0.05847	-0.092000	0.11094	0.300000	0.16968	0.519000	0.23678	0.000000	0.06391	0.000000	0.08366	0.056000	0.15673	0.0:0.2418:0.3507:0.4075	4.006	0.09092	654	0.62520	Immunoglobulin-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1408.98	37	chr6	26458701	.	T	A	1408.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.379e+00;DP=801;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.81;MQRankSum=0.00;QD=15.15;ReadPosRankSum=0.016;SOR=0.664	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1275	20	0	1	0
chr6	26463492	26463492	G	T	exonic	BTN2A1	.	nonsynonymous SNV	BTN2A1:NM_001197233:exon3:c.G496T:p.G166C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.991	D	0.94	D	0.621	N	1.000	N	3.11	M	-1.05	T	-0.223	T	0.488	T	0.179	0.459	6.491	-3.71	-1.121	-0.539	10.713	0.292	0.0630511781921	.	.	9.067e-05	0	0	0	0	0	0	0.0007	7.12e-05	11	154602	rs770952034	3.626e-05	3.625e-05	1.77e-05	5.501e-05	0.0006	2.828e-05	2.565e-05	0.0005	0.0004	0	0	0	0	0	0	0	1.656e-05	0.0006	6.576e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.91255	D	0.012	0.63918	D	0.991	0.64070	D	0.94	0.67560	D	0.620609	0.10781	N	0.826824	1	0.08975	N	3.495	0.92709	M	-1.05	0.76690	T	-4.64	0.89272	D	0.293	0.33140	-0.2230	0.77072	T	0.488	0.80530	T	10	0.14044169	0.26695	T	0.063051	0.68847	D	0.292	0.61157	0.546	0.66015	0.696218657014	0.69360	0.15642516669768364	0.15563	0.383681325765	0.39687	0.259269922972	0.04805	T	0.112464	0.42875	T	-0.315387	0.07282	T	-0.319723	0.42604	T	0.551931977272034	0.34550	D	0.912709	0.68911	D	0.50108856	0.67158	0.28402686	0.54398	0.50108856	0.67159	0.28402686	0.54397	-10.76	0.86393	D	.	.	0.212	0.51279	B	.;.;.;.	.;.;.;.	1.527650	0.19602	14.35	0.97377884999167341	0.33656	0.04449	0.10052	N	AEFBI	0.086332	0.17504	N	-0.683060771830915	0.16504	0.841482	-1.04752259629952	0.08758	0.4322087	0.999942165231177	0.47345	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	2.88	-3.71	0.04137	-0.951000	0.03995	-1.069000	0.06426	-0.806000	0.03109	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.7175:0.0:0.2825:0.0	10.713	0.45194	649	0.63102	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2265.98	189	chr6	26463492	.	G	T	2265.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.712;DP=919;ExcessHet=0.0000;FS=0.537;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=-8.140e-01;SOR=0.770	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr6	26468201	26468201	G	C	exonic	BTN2A1	.	nonsynonymous SNV	BTN2A1:NM_001197233:exon7:c.G1053C:p.E351D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.998	D	0.976	D	0.000	D	1.000	N	1.245	L	-0.36	T	-0.890	T	0.226	T	0.088	0.011	4.071	2.67	1.796	-1.212	11.481	0.146	0.018966421531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.24277	T	0.211	0.26631	T	0.998	0.73220	D	0.976	0.73562	D	0.000092	0.51296	D	0.000000	1	0.08975	N	0.49	0.13296	N	-0.36	0.68754	T	-1.5	0.36586	N	0.068	0.04072	-0.8898	0.48952	T	0.226	0.59045	T	10	0.12924948	0.24591	T	0.018966	0.41201	T	0.146	0.38789	0.353	0.35246	0.392395365052	0.38849	0.1890947976805061	0.18827	0.0878000191581	0.09913	0.361539572477	0.19610	T	0.007996	0.07364	T	-0.212128	0.19080	T	-0.542484	0.18052	T	0.37070307135582	0.27824	T	0.0461954	0.00328	T	0.18370253	0.39651	0.12016162	0.29000	0.18370253	0.39651	0.12016162	0.28999	-5.348	0.40415	T	.	.	0.115	0.24833	B	.;.	.;.	1.653848	0.21100	15.05	0.98235129725680093	0.39431	0.16426	0.19383	N	AEFDBI	0.142318	0.26473	N	-0.466510824700501	0.23184	1.243201	-0.612477932372553	0.19173	1.027489	0.999878066652012	0.44625	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.67	2.67	0.30756	-0.887000	0.04260	0.127000	0.14995	-0.185000	0.09859	0.000000	0.06391	0.000000	0.08366	0.093000	0.17941	0.0:0.0:1.0:0.0	11.481	0.49570	637	0.64373	.;SPRY domain|B30.2/SPRY domain|SPRY domain|Butyrophilin subfamily 1/2, SPRY/PRY domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	38.98	46	chr6	26468201	.	G	C	38.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.020e+00;DP=1362;ExcessHet=0.0000;FS=154.991;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.16;ReadPosRankSum=2.40;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:205,36:241:53:0|1:26468201_G_C:53,0,6878:26468201	20	0	1	0
chr6	26468202	26468202	G	C	exonic	BTN2A1	.	nonsynonymous SNV	BTN2A1:NM_001197233:exon7:c.G1054C:p.V352L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.04	B	0.048	B	0.005	N	1.000	N	1.3	L	0.18	T	-1.028	T	0.046	T	0.053	-0.984	0.284	0.827	0.195	0.026	3.473	0.046	0.0113536328415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.322	0.13522	T	0.694	0.10429	T	0.04	0.21238	B	0.048	0.24975	B	0.004762	0.33407	N	0.137167	1	0.08975	N	1.02	0.25474	L	0.18	0.60361	T	-1.07	0.27876	N	0.037	0.01135	-1.0282	0.21038	T	0.046	0.19879	T	10	0.103967994	0.19141	T	0.011354	0.28886	T	0.046	0.12618	0.696	0.83313	0.330069100803	0.32608	0.18803037934269917	0.18721	0.073190021523	0.08211	0.332187712193	0.15264	T	0.002426	0.01816	T	-0.263576	0.12485	T	-0.616385	0.11471	T	0.136818408966064	0.15998	T	0.253675	0.03893	T	0.08667843	0.20157	0.044379774	0.05736	0.08667843	0.20157	0.044379774	0.05735	-5.069	0.38799	T	.	.	0.183	0.42346	B	.;.	.;.	1.079481	0.14625	11.18	0.65931159684803642	0.07913	0.17428	0.19833	N	AEFDBI	0.148750	0.27270	N	-1.15219466408591	0.05744	0.2626631	-1.21295770557281	0.05701	0.2723853	0.999415319775984	0.39577	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.67	0.827	0.17972	-0.311000	0.08164	1.108000	0.24132	-0.191000	0.09375	0.000000	0.06391	0.000000	0.08366	0.086000	0.17578	0.1419:0.0:0.6121:0.246	3.473	0.07138	637	0.64373	.;SPRY domain|B30.2/SPRY domain|SPRY domain|Butyrophilin subfamily 1/2, SPRY/PRY domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1	101.74	119	chr6	26468202	.	G	C	101.74	.	AC=3;AF=0.100;AN=30;BaseQRankSum=-5.090e+00;DP=3171;ExcessHet=0.3300;FS=149.650;InbreedingCoeff=-0.1659;MLEAC=4;MLEAF=0.133;MQ=60.00;MQRankSum=0.00;QD=0.15;ReadPosRankSum=1.79;SOR=10.113	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:205,36:241:53:0|1:26468201_G_C:53,0,6878:26468201	12	0	3	6
chr6	26545291	26545291	T	C	exonic	HMGN4	.	nonsynonymous SNV	HMGN4:NM_006353:exon2:c.T85C:p.S29P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.997	D	0.000	D	0.996	D	.	.	.	.	-0.365	T	0.323	T	0.692	2.808	15.35	3.15	1.664	2.893	9.989	0.286	0.0388961168683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.008	0.67890	D	0.997	0.70673	D	0.997	0.86255	D	0.000007	0.62929	D	0.000000	0.996416	0.43191	D	.	.	.	.	.	.	-4.53	0.78388	D	0.641	0.65330	-0.3647	0.73123	T	0.323	0.69212	T	8	0.7389529	0.74820	D	0.038896	0.58494	D	0.286	0.60456	0.541	0.65304	0.326275561783	0.32232	0.22689486886573745	0.22604	0.432901375486	0.43465	0.642388820648	0.58903	T	0.532768	0.83861	D	0.152116	0.69465	D	-0.0192721	0.69076	D	0.991724848747253	0.82061	D	0.79582	0.43907	T	0.8983934	0.91239	0.8107355	0.88947	0.8983934	0.91241	0.8107355	0.88947	-10.676	0.77851	D	.	.	0.640	0.70503	P	.	.	4.065148	0.60355	24.2	0.99764135443354984	0.85335	0.75721	0.37089	D	AEFBCI	0.482858	0.52354	N	0.332952614309297	0.57846	3.953785	0.228619213290326	0.51441	3.326618	0.994572453587749	0.33701	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.15	3.15	0.35301	2.141000	0.41792	6.554000	0.55920	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:0.0:0.0:1.0	9.989	0.41032	567	0.70732	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1191.98	33	chr6	26545291	.	T	C	1191.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.040e-01;DP=871;ExcessHet=0.0000;FS=1.664;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=1.41;SOR=0.513	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	20	0	1	0
chr6	26545468	26545468	G	A	exonic	HMGN4	.	nonsynonymous SNV	HMGN4:NM_006353:exon2:c.G262A:p.D88N,	.	.	428	1082	12	0	0	12	0.00551471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.284	B	0.218	B	0.000	D	0.972	N	.	.	.	.	-1.006	T	0.074	T	0.022	3.728	18.93	3.83	2.416	4.169	14.028	0.149	.	0.0047	0.0105831	0.0057	0.0143	0.0022	0.0075	0	0.0009	0.0049	0.0312	0.0049999	773	154602	rs34511704	0.0025	0.0026	0.0019	0.0032	0.0262	0.0025	0.0024	0.0253	0.0249	0.0120	0.0025	4.454e-05	0.0043	3.881e-05	0.0070	0.0006	0.0042	0.0262	0.0057	0.0057	0.0053	0.0061	0.0292	0.0054	0.0053	0.0253	0.0238	0.0138	0.0110	0.0032	0	0.0042	0	0.0034	0.0009	0.0052	0.0292	0.023	0.48186	D	0.052	0.47581	T	0.284	0.32165	B	0.218	0.37679	B	0.000005	0.62929	D	0.000000	0.97212	0.25618	N	.	.	.	.	.	.	-3.94	0.73378	D	0.191	0.20925	-1.0059	0.28186	T	0.074	0.29770	T	8	0.0047082305	0.00099	T	.	.	.	0.149	0.39377	.	.	0.229543500084	0.22568	0.12692977292968816	0.12618	0.592345308843	0.54628	0.386521339417	0.23178	T	0.27839	0.65104	T	-0.260621	0.12828	T	-0.612141	0.11812	T	0.0685672644446638	0.08448	T	0.857514	0.54691	D	0.33108982	0.55559	0.31346735	0.57343	0.33108982	0.55559	0.31346735	0.57343	-6.869	0.53070	T	.	.	0.096	0.15475	B	.	.	3.571292	0.50303	22.9	0.99899455706022633	0.97199	0.91555	0.53775	D	AEFBCI	0.364117	0.45278	N	-0.0508662545877477	0.39563	2.335146	-0.0386817125047097	0.37985	2.23153	0.999815831251024	0.43459	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.83	3.83	0.43287	4.447000	0.59762	3.842000	0.40046	0.676000	0.76740	1.000000	0.71638	0.995000	0.32472	0.997000	0.79791	0.0:0.0:1.0:0.0	14.028	0.64118	567	0.70732	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3653.11	41	chr6	26545468	.	G	A	3653.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.689;DP=1147;ExcessHet=0.1072;FS=1.295;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=0.150;SOR=0.773	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	19	0	2	0
chr6	27310582	27310582	G	A	exonic	POM121L2	.	nonsynonymous SNV	POM121L2:NM_033482:exon1:c.C1589T:p.A530V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.025	B	0.035	B	0.056	N	0.853	N	2.015	M	1.98	T	-1.009	T	0.021	T	0.046	2.299	13.64	2.64	0.628	1.417	7.159	0.037	0.00457380117422	.	.	.	.	.	.	.	.	.	.	.	.	.	rs931459915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.025	0.56192	D	.	.	.	.	.	.	0.055521	0.22635	N	0.224693	0.852663	0.28474	N	1.385	0.34509	L	1.94	0.22678	T	-2.33	0.51646	N	0.033	0.00882	-1.0093	0.27136	T	0.021	0.08917	T	10	0.06081772	0.07530	T	0.004574	0.11283	T	0.037	0.09474	0.228	0.15406	0.0401082797425	0.02173	0.28922171704253374	0.28835	.	.	0.254709690809	0.04280	T	0.016631	0.13711	T	-0.321687	0.06761	T	-0.699857	0.05834	T	0.437501043081284	0.30337	T	0.454055	0.12934	T	0.08149508	0.18729	0.12834299	0.30879	0.08149508	0.18729	0.12834299	0.30878	-3.999	0.23789	T	.	.	0.122	0.25364	B	.	.	1.722228	0.21927	15.41	0.99824631958357912	0.90677	0.35993	0.25431	N	AEFDBI	0.065033	0.12662	N	-0.709333535591486	0.15758	0.7970068	-0.707749686166026	0.16767	0.8885786	0.00176535619173559	0.08861	0.516011	0.20929	0	0.610034	0.51514	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.41	2.64	0.30504	1.255000	0.32512	1.631000	0.27739	-0.186000	0.09761	0.088000	0.22533	0.006000	0.19429	0.249000	0.23237	0.2046:0.0:0.7954:0.0	7.159	0.24831	624	0.65661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1562	569.39	60	chr6	27310582	.	G	A	569.39	.	AC=5;AF=0.156;AN=32;BaseQRankSum=-3.043e+00;DP=1543;ExcessHet=1.1607;FS=221.345;InbreedingCoeff=-0.2306;MLEAC=6;MLEAF=0.188;MQ=60.00;MQRankSum=0.00;QD=1.28;ReadPosRankSum=1.47;SOR=10.307	GT:AD:DP:GQ:PL	./.:65,0:65:0:0,0,1331	11	0	5	5
chr6	27311928	27311928	C	T	exonic	POM121L2	.	nonsynonymous SNV	POM121L2:NM_033482:exon1:c.G243A:p.M81I,	.	.	391	1119	12	0	0	12	0.00533333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	0.567	P	0.464	P	0.001	N	0.909	N	0.515	N	2.9	T	-0.974	T	0.009	T	0.31	-0.363	2.289	3.47	2.242	0.087	10.740	0.076	.	.	0.00179712	0.0040	0	0	0	0	0	0	0.0108	0.0006015	93	154602	rs558295499	0.0004	0.0004	0.0002	0.0006	0.0069	0.0004	0.0004	0.0065	0.0063	0	0	0	0	0	0.0002	3.707e-06	0.0003	0.0069	0.0003	0.0003	0.0002	0.0003	0.0081	0.0002	0.0002	0.0061	0.0054	0	0	0	0	0.0002	0	0	0	0	0.0081	0.783	0.03262	T	0.116	0.36497	T	.	.	.	.	.	.	0.001058	0.40475	N	0.000000	0.90857	0.27555	N	0.915	0.23335	L	2.9	0.10101	T	-0.63	0.18459	N	0.441	0.47949	-0.9736	0.36431	T	0.009	0.03183	T	10	0.0047436357	0.00100	T	.	.	.	0.076	0.22200	0.184	0.09259	0.0551355673512	0.04727	0.07259044147540329	0.07196	.	.	0.460097074509	0.33324	T	0.004385	0.03788	T	-0.56888	0.00225	T	-0.583678	0.14217	T	0.0792048292129971	0.09884	T	0.442956	0.12306	T	0.08988053	0.21014	0.1348092	0.32295	0.08988053	0.21014	0.1348092	0.32294	-2.039	0.03331	T	.	.	0.657	0.71189	P	.	.	1.857787	0.23599	16.08	0.81647003967463772	0.13789	0.26052	0.22881	N	AEFDBHCI	0.052302	0.09323	N	-0.444892359676349	0.23914	1.287553	-0.448544058777557	0.23590	1.287261	0.999993301440678	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.378051	0.06126	2	0.63947	0.58350	0	.	.	3.47	3.47	0.38831	0.676000	0.24927	0.541000	0.19334	-0.218000	0.08083	0.570000	0.27505	0.001000	0.17328	0.013000	0.09966	0.0:1.0:0.0:0.0	10.740	0.45346	624	0.65661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2233.98	37	chr6	27311928	.	C	T	2233.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.073e+00;DP=1264;ExcessHet=0.0000;FS=0.565;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=-1.222e+00;SOR=0.768	GT:AD:DP:GQ:PL	0/0:72,0:72:99:0,120,1800	20	0	1	0
chr6	27401095	27401095	T	C	exonic	ZNF391	.	nonsynonymous SNV	ZNF391:NM_001076781:exon3:c.T725C:p.I242T	.	.	416	1090	14	2	0	18	0.00818926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.999	D	0.978	D	.	.	1.000	N	-0.13	N	3.04	T	-1.014	T	0.008	T	0.12	2.241	13.45	1.61	0.045	0.115	2.646	0.157	.	0.0002	0.00439297	0.0012	0.0001	0.0003	0.0077	0.0014	0.0002	0.0022	0.0028	0.001119	173	154602	rs58690463	0.0016	0.0016	0.0015	0.0017	0.0432	0.0016	0.0015	0.0414	0.0408	5.974e-05	0.0002	3.826e-05	0.0432	0.0011	0.0035	0.0002	0.0011	0.0032	0.0010	0.0010	0.0009	0.0012	0.0191	0.0009	0.0008	0.0160	0.0149	7.226e-05	0	0.0001	0	0.0191	0.0012	0	0.0003	0.0014	0.0029	0.395	0.10659	T	0.156	0.31833	T	0.999	0.77913	D	0.978	0.74104	D	.	.	.	.	1	0.08975	N	-1.01	0.01154	N	3.04	0.08810	T	-1.62	0.38924	N	0.106	0.09066	-1.0136	0.25784	T	0.008	0.02926	T	9	0.008790642	0.00199	T	.	.	.	0.157	0.40909	.	.	0.232513804876	0.22884	0.01728319909283035	0.01683	0.450892133838	0.44853	0.633433222771	0.57632	T	0.061051	0.31551	T	-0.682337	0.00046	T	-0.710412	0.05274	T	0.0445116463601758	0.04513	T	0.0707929	0.00516	T	0.05663609	0.11168	0.06492421	0.13085	0.05663609	0.11167	0.06492421	0.13084	-3.31	0.13866	T	.	.	0.705	0.73165	P	.	.	1.882060	0.23905	16.20	0.99214041864008651	0.55685	0.01138	0.04130	N	AEFGBHCI	0.032638	0.03724	N	-0.415014661257226	0.24942	1.350422	-0.535500767217852	0.21192	1.145254	7.81843071204859E-5	0.04552	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	4.01	1.61	0.22752	-0.246000	0.08896	0.290000	0.16862	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.919000	0.45453	0.1965:0.2262:0.0:0.5773	2.646	0.04683	568	0.70638	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1653.98	34	chr6	27401095	.	T	C	1653.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.44;DP=804;ExcessHet=0.0000;FS=6.489;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.22;ReadPosRankSum=-7.630e-01;SOR=1.293	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1080	20	0	1	0
chr6	27808602	27808602	G	C	exonic	H2AC13	.	stoploss	H2AC13:NM_003509:exon1:c.G393C:p.X131Y,	.	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	-0.327	2.448	-9.26	-2.033	-0.190	13.246	.	.	.	.	1.676e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs750695937	1.096e-05	1.094e-05	9.541e-06	1.24e-05	0.0009	6.49e-06	5.25e-06	0.0003	0.0002	0	0	0	0	0	0.0009	5.403e-06	3.32e-05	3.482e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.014	0.00160	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.599775	0.00146	T	-0.917784	0.00390	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176043	0.05641	2.093	0.69590424622837732	0.09021	0.01925	0.05876	N	AEFDBHCIJ	.	.	.	-0.414207623591497	0.24970	1.352143	-0.903374095949533	0.12015	0.6155806	0.999999999999947	0.74766	0.075627	0.01787	0	0.08856	0.02465	0	0.04985	0.00251	1	0.063338	0.01809	2	0.0772398	0.17812	4.67	-9.26	0.00563	0.334000	0.19529	0.433000	0.18345	-0.130000	0.13190	0.005000	0.17040	0.005000	0.19230	0.254000	0.23365	0.8085:0.0848:0.1067:0.0	13.246	0.59455	461	0.78683	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3648.98	33	chr6	27808602	.	G	C	3648.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.020e-01;DP=985;ExcessHet=0.0000;FS=2.765;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.93;ReadPosRankSum=0.586;SOR=0.545	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1345	20	0	1	0
chr6	27867079	27867079	C	A	exonic	H1-5	.	nonsynonymous SNV	H1-5:NM_005322:exon1:c.G451T:p.A151S,	.	.	424	1061	36	0	1	37	0.0166821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.0	B	0.001	B	0.005	N	1.000	N	0	N	2.42	T	-0.931	T	0.005	T	0.138	1.309	10.29	0.004	0.130	0.191	3.023	0.045	.	0.0013	0.00678914	0.0063	0.0004	0.0013	0.0007	0.0002	0.0011	0.0110	0.0391	0.0054204	838	154602	rs145278803	0.0029	0.0029	0.0018	0.0041	0.0377	0.0029	0.0028	0.0366	0.0362	2.993e-05	0.0005	0.0062	0.0013	7.49e-05	0.0071	0.0005	0.0036	0.0377	0.0019	0.0019	0.0013	0.0024	0.0350	0.0017	0.0016	0.0307	0.0290	0.0003	0	0.0005	0.0052	0.0021	0.0002	0.0068	0.0008	0.0038	0.0350	0.459	0.08762	T	0.461	0.12562	T	0.0	0.02946	B	0.001	0.04355	B	0.004793	0.33389	N	0.239133	0.999983	0.18198	N	-0.08	0.04796	N	2.42	0.15376	T	0.27	0.04306	N	0.174	0.18649	-0.9314	0.43933	T	0.005	0.01578	T	10	0.0012731254	0.00014	T	.	.	.	0.045	0.12272	.	.	0.158540857583	0.15491	0.0680979719865761	0.06747	0.00356511220385	0.00305	0.347121953964	0.17497	T	0.026524	0.19611	T	-0.588763	0.00171	T	-0.589925	0.13672	T	0.00960118568006993	0.00125	T	0.191481	0.02052	T	0.054947678	0.10612	0.051040016	0.08132	0.054947678	0.10611	0.051040016	0.08132	-6.708	0.51870	T	.	.	0.079	0.07507	B	.	.	1.074452	0.14567	11.13	0.90195530381334532	0.19470	0.00198	0.01140	N	AEFDBHCIJ	0.147822	0.27158	N	-0.932036297178994	0.10099	0.4810131	-0.848803464731251	0.13317	0.6901348	0.999999950206103	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	5.19	0.00442	0.13380	-0.182000	0.09720	-10.258000	0.00721	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.968000	0.53726	0.1976:0.3537:0.0:0.4487	3.023	0.05713	477	0.77662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1085.98	114	chr6	27867079	.	C	A	1085.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.267;DP=878;ExcessHet=0.0000;FS=0.698;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.53;ReadPosRankSum=-4.390e-01;SOR=0.776	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1403	20	0	1	0
chr6	27873204	27873204	C	T	exonic	H4C13	.	nonsynonymous SNV	H4C13:NM_003546:exon1:c.G307A:p.G103S,	.	.	11	1490	18	3	0	24	0.00798935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	.	.	.	.	0.000	D	1.000	D	.	.	.	.	-0.422	T	0.312	T	0.636	2.982	15.94	4.49	2.430	7.201	16.667	0.226	.	0.0039	0.00339457	0.0068	0.0010	0.0012	0.0001	0.0048	0.0102	0.0079	0.0044	0.0064488	997	154602	rs45526033	0.0063	0.0063	0.0062	0.0063	0.0101	0.0062	0.0061	0.0080	0.0073	0.0010	0.0017	0.0119	0	0.0066	0.0101	0.0069	0.0057	0.0035	0.0048	0.0048	0.0050	0.0047	0.0074	0.0045	0.0044	0.0069	0.0067	0.0012	0.0230	0.0032	0.0104	0	0.0041	0.0204	0.0074	0.0033	0.0037	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000002	0.62929	D	0.000000	0.999741	0.48716	D	.	.	.	.	.	.	.	.	.	0.653	0.66358	-0.4222	0.71319	T	0.312	0.68264	T	6	0.007812321	0.00177	T	.	.	.	.	.	.	.	0.0954503805726	0.09146	0.6635360055952264	0.66290	.	.	0.73140925169	0.71713	T	0.059698	0.31187	T	-0.0568513	0.43396	T	0.151958	0.80307	D	0.0600398676424806	0.07176	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.524533	0.49421	22.8	0.99048207168593982	0.51185	0.95945	0.66836	D	ALL	0.862432	0.78072	D	0.270502246397553	0.54660	3.631068	0.266824308157461	0.53611	3.52935	0.999999999999999	0.74766	0.024636	0.00146	3	0.166054	0.03914	2	0.171818	0.04044	3	0.249971	0.05119	0	.	.	4.49	4.49	0.54177	7.365000	0.78793	3.709000	0.39550	0.594000	0.32500	1.000000	0.71638	0.994000	0.32194	0.024000	0.12247	0.0:1.0:0.0:0.0	16.667	0.85114	484	0.77165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1807.98	36	chr6	27873204	.	C	T	1807.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.49;DP=894;ExcessHet=0.0000;FS=5.499;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.37;ReadPosRankSum=-3.900e-01;SOR=1.111	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr6	27957298	27957298	C	G	exonic	OR2B6	.	nonsynonymous SNV	OR2B6:NM_012367:exon1:c.C58G:p.R20G,	.	.	424	1091	7	0	0	7	0.00319781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.353	B	0.157	B	0.610	U	1.000	N	1.23	L	5.38	T	-0.898	T	0.002	T	0.287	0.768	8.058	3.05	0.907	0.219	5.479	0.028	.	0.0006	0.00998403	0.0054	0.0009	0.0004	0.0093	0	0.0002	0.0044	0.0331	0.004877	754	154602	rs150850606	0.0026	0.0026	0.0016	0.0036	0.0349	0.0025	0.0025	0.0339	0.0335	0.0010	0.0004	0	0.0055	0	0.0036	0.0002	0.0045	0.0349	0.0022	0.0022	0.0013	0.0032	0.0504	0.0020	0.0019	0.0452	0.0432	0.0010	0	6.54e-05	0	0.0064	0	0	0.0002	0.0033	0.0504	0.021	0.49117	D	0.244	0.24123	T	0.353	0.33698	B	0.157	0.34536	B	0.609690	0.10879	U	0.689868	0.999958	0.19072	N	1.43	0.35840	L	5.38	0.01033	T	-4.1	0.74900	D	0.085	0.06190	-0.8977	0.48224	T	0.002	0.00526	T	10	0.0022549927	0.00033	T	.	.	.	0.028	0.06331	.	.	0.275215494804	0.27121	0.3425048101534829	0.34163	0.123300978965	0.13890	0.182806894183	0.00122	T	0.094839	0.39497	T	-0.57761	0.00199	T	-0.580161	0.14530	T	0.019914893059643	0.00692	T	0.0368963	0.00256	T	0.24605127	0.47570	0.25376707	0.51030	0.24605127	0.47570	0.25376707	0.51030	-10.698	0.77976	D	.	.	0.165	0.36475	B	.	.	2.493447	0.32177	18.96	0.9869077426091637	0.44752	0.24863	0.22524	N	AEFGBI	0.115878	0.22766	N	-0.456082648638188	0.23534	1.264502	-0.473239551149825	0.22894	1.245783	0.0726778210527276	0.15609	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.93	3.05	0.34272	-0.511000	0.06404	-4.993000	0.01895	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.960000	0.51673	0.2007:0.6919:0.0:0.1074	5.479	0.16004	481	0.77356	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4268.11	33	chr6	27957298	.	C	G	4268.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.07;DP=989;ExcessHet=0.1072;FS=3.147;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=-2.020e-01;SOR=0.884	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1155	19	0	2	0
chr6	27957616	27957616	A	G	exonic	OR2B6	.	nonsynonymous SNV	OR2B6:NM_012367:exon1:c.A376G:p.I126V,	.	.	424	1077	20	1	0	22	0.0101103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.05	B	0.005	U	0.639	D	1.48	L	0.73	T	-1.065	T	0.042	T	0.313	-0.361	2.299	3.68	1.598	4.748	10.916	0.105	.	0.0005	0.00479233	0.0059	0.0010	0.0007	0.0003	0	0.0002	0.0033	0.0409	0.0048576	751	154602	rs143223456	0.0028	0.0028	0.0014	0.0042	0.0425	0.0027	0.0027	0.0413	0.0409	0.0013	0.0001	0.0007	0.0005	0	0.0102	0.0002	0.0015	0.0425	0.0014	0.0014	0.0009	0.0020	0.0344	0.0013	0.0012	0.0302	0.0285	0.0007	0	6.55e-05	0.0006	0.0019	0	0	8.825e-05	0.0005	0.0344	0.903	0.02407	T	1.0	0.01155	T	0.008	0.14655	B	0.05	0.25278	B	0.004577	0.33608	U	0.000000	0.638709	0.32856	D	0.57	0.15267	N	0.73	0.50721	T	-0.08	0.08187	N	0.508	0.53972	-1.0650	0.10549	T	0.042	0.17869	T	10	0.006839961	0.00155	T	.	.	.	0.105	0.29889	.	.	0.54456359225	0.54111	0.14947189597647004	0.14869	0.0639061766001	0.07121	0.325245440006	0.14215	T	0.005922	0.05364	T	-0.457479	0.01019	T	-0.431387	0.29779	T	0.0305732340930483	0.02079	T	0.622038	0.23930	T	0.06276232	0.13143	0.062467888	0.12226	0.06276232	0.13143	0.062467888	0.12225	-4.159	0.26155	T	.	.	0.097	0.15877	B	.	.	1.988445	0.25265	16.70	0.39403202385802433	0.02717	0.97488	0.75073	D	AEFGBI	0.466915	0.51436	N	-0.377714764813272	0.26264	1.432113	-0.258030348275566	0.29496	1.652963	0.998758606467048	0.37602	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.68	3.68	0.41359	6.849000	0.75212	0.068000	0.14222	0.752000	0.88150	1.000000	0.71638	0.000000	0.08366	0.996000	0.76049	1.0:0.0:0.0:0.0	10.916	0.46346	481	0.77356	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1039.98	33	chr6	27957616	.	A	G	1039.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.535e+00;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.54;ReadPosRankSum=-1.601e+00;SOR=0.665	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1155	20	0	1	0
chr6	28149495	28149495	G	A	exonic	ZKSCAN8	.	nonsynonymous SNV	ZKSCAN8:NM_006298:exon3:c.G430A:p.V144I	.	.	428	1089	5	0	0	5	0.00229043	.	.	2346055	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	0.001	B	0.0	B	0.621	N	1.000	N	0	N	3.25	T	-0.911	T	0.004	T	0.045	0.076	4.410	1.61	0.196	-0.024	1.701	0.019	0.00447123678621	.	.	0.0002	9.61e-05	0	0	0	0.0002	0	0.0007	0.0002329	36	154602	rs199685233	0.0002	0.0002	0.0002	0.0002	0.0017	0.0001	0.0001	0.0009	0.0007	0.0001	0.0002	3.828e-05	0	1.872e-05	0.0017	0.0001	0.0002	0.0005	0.0001	0.0001	0.0001	0.0001	0.0004	8.167e-05	6.723e-05	0.0001	8.877e-05	4.817e-05	0	0	0	0	0	0.0034	0.0002	0.0005	0.0004	0.253	0.16958	T	0.357	0.17115	T	0.001	0.07471	B	0.0	0.01387	B	0.620636	0.05754	N	1.232830	1	0.08975	N	0.46	0.12951	N	3.25	0.06762	T	-0.55	0.16799	N	0.078	0.05287	-0.9110	0.46732	T	0.004	0.01192	T	10	0.03099075	0.01230	T	0.004471	0.10969	T	0.019	0.03383	0.409	0.44395	0.119812018005	0.11559	0.21194840775581356	0.21110	0.237227637055	0.26266	0.354544878006	0.18589	T	0.005833	0.05277	T	-0.609891	0.00127	T	-0.783841	0.02340	T	0.0091024988265071	0.00114	T	0.0660934	0.00480	T	0.020116968	0.00559	0.026625417	0.00762	0.020116968	0.00559	0.026625417	0.00762	-5.994	0.46229	T	.	.	0.091	0.12891	B	.;.	.;.	1.023902	0.14038	10.60	0.88389617538618637	0.17939	0.04887	0.10631	N	AEFDBI	0.016706	0.00393	N	-1.1674274897213	0.05499	0.2508451	-1.14169716210342	0.06918	0.3346471	0.752795993012115	0.23387	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	4.48	1.61	0.22752	0.510000	0.22430	2.246000	0.31650	-0.685000	0.04181	0.509000	0.27025	0.026000	0.21063	0.179000	0.21265	0.1906:0.1647:0.4751:0.1696	1.701	0.02699	448	0.79501	SCAN domain;SCAN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	891.98	35	chr6	28149495	.	G	A	891.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.26;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.25;ReadPosRankSum=0.452;SOR=0.619	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1187	20	0	1	0
chr6	28245882	28245882	A	G	exonic	ZKSCAN4	.	nonsynonymous SNV	ZKSCAN4:NM_001304506:exon5:c.T407C:p.I136T	.	.	374	1146	2	0	0	2	0.00087184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.0	B	0.001	B	.	.	1.000	N	0.35	N	3.42	T	-0.914	T	0.003	T	0.012	0.862	8.491	-7.22	-1.379	-1.869	16.055	0.100	0.00459233522114	0.0002	0.000399361	0.0004	9.61e-05	0	0	0	0.0008	0	0	0.0004204	65	154602	rs138392767	0.0005	0.0005	0.0004	0.0005	0.0019	0.0004	0.0004	0.0011	0.0008	2.987e-05	0.0002	0	0	1.872e-05	0.0019	0.0006	0.0007	9.275e-05	0.0004	0.0004	0.0003	0.0004	0.0008	0.0003	0.0003	0.0006	0.0006	0	0	6.543e-05	0	0	0	0	0.0008	0.0009	0.0002	0.641	0.04987	T	0.279	0.21745	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.115	0.28702	L	3.42	0.05507	T	0.03	0.06612	N	0.008	0.00068	-0.9141	0.46338	T	0.003	0.01059	T	9	0.008164704	0.00185	T	0.004592	0.11346	T	0.100	0.28662	.	.	0.0482279557977	0.04254	0.05790900392372576	0.05731	0.212277476401	0.23727	0.287721008062	0.08591	T	0.002654	0.02045	T	-0.724419	0.00026	T	-0.882177	0.00636	T	0.010757442633631	0.00152	T	0.246975	0.03645	T	0.039847687	0.05579	0.09537517	0.22617	0.039847687	0.05579	0.09537517	0.22616	-3.043	0.10651	T	.	.	0.089	0.12276	B	.	.	-0.903757	0.00920	0.034	0.44883036092030798	0.03483	0.01464	0.04890	N	AEFBI	0.027687	0.02306	N	-1.63493717248839	0.01100	0.04775507	-1.69649308072218	0.01153	0.05186064	0.701273697510943	0.22703	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.1	-7.22	0.01335	-4.092000	0.00336	-1.049000	0.06489	-0.208000	0.08445	0.000000	0.06391	0.000000	0.08366	0.074000	0.16894	0.3549:0.0:0.6451:0.0	16.055	0.80604	467	0.78285	Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1965.98	33	chr6	28245882	.	A	G	1965.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.030e-01;DP=856;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=-3.000e-01;SOR=0.681	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1227	20	0	1	0
chr6	28259495	28259495	C	T	exonic	NKAPL	.	nonsynonymous SNV	NKAPL:NM_001007531:exon1:c.C124T:p.R42C,	.	.	428	1086	7	1	0	9	0.00412655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.013	B	0.002	B	0.595	N	1.000	N	1.65	L	2.17	T	-0.929	T	0.020	T	0.127	2.108	13.00	-3.2	-0.856	-0.895	11.187	0.039	.	0.0111	0.00658946	0.0033	0.0256	0.0046	0.0002	0	0.0011	0.0033	6.07e-05	0.0030207	467	154602	rs144553865	0.0016	0.0016	0.0017	0.0015	0.0275	0.0016	0.0015	0.0260	0.0254	0.0275	0.0055	0.0002	0	9.373e-05	0.0061	0.0009	0.0030	0.0002	0.0084	0.0084	0.0088	0.0080	0.0262	0.0080	0.0079	0.0249	0.0244	0.0262	0	0.0061	0	0.0004	0.0003	0.0068	0.0009	0.0114	0.0006	0.032	0.44694	D	0.022	0.57587	D	0.013	0.16609	B	0.002	0.06944	B	0.595259	0.05615	N	1.245590	1	0.08975	N	2.175	0.60977	M	2.17	0.19020	T	-2.89	0.60665	D	0.089	0.06720	-0.9287	0.44328	T	0.020	0.08220	T	10	0.0029786527	0.00048	T	.	.	.	0.039	0.10176	.	.	0.0846915920261	0.08053	0.22714913724606797	0.22629	0.5886941255	0.54410	0.431503504515	0.29414	T	0.013614	0.11743	T	-0.646221	0.00076	T	-0.681431	0.06897	T	0.0452981074223334	0.04657	T	0.463154	0.13467	T	0.09699874	0.22858	0.09062915	0.21264	0.09699874	0.22857	0.09062915	0.21264	-6.16	0.47598	T	.	.	0.119	0.24464	B	.	.	2.066567	0.26275	17.06	0.98160224660493034	0.38764	0.04858	0.10594	N	AEFDBCI	0.080032	0.16174	N	-1.05092432064256	0.07569	0.352078	-1.17878315713322	0.06265	0.3010412	0.999950248462293	0.48110	0.554377	0.28877	0	0.541556	0.11502	0	0.602189	0.34648	0	0.56751	0.32155	0	.	.	3.99	-3.2	0.04838	-0.635000	0.05568	-0.359000	0.09688	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.2314:0.6768:0.0918	11.187	0.47887	495	0.76383	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1504.98	33	chr6	28259495	.	C	T	1504.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=801;ExcessHet=0.0000;FS=0.763;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.20;ReadPosRankSum=1.35;SOR=0.811	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,111,1326	20	0	1	0
chr6	28287104	28287104	A	G	exonic	PGBD1	.	nonsynonymous SNV	PGBD1:NM_001184743:exon4:c.A578G:p.H193R	.	.	409	1094	18	1	0	20	0.00905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.171	B	0.03	B	.	.	1.000	N	0.55	N	5.06	T	-0.925	T	0.001	T	0.048	0.282	5.526	-5.31	-0.800	-1.664	0.878	0.025	0.00227787783254	0.0008	0.000399361	0.0006	0.0003	0.0003	0	0	0.0007	0.0022	0.0008	0.0006015	93	154602	rs148512859	0.0006	0.0006	0.0006	0.0006	0.0106	0.0006	0.0006	0.0085	0.0077	0.0004	0.0006	0.0002	0	0	0.0106	0.0007	0.0008	0.0005	0.0005	0.0005	0.0005	0.0005	0.0008	0.0004	0.0004	0.0005	0.0005	0.0002	0	0.0007	0	0	0	0.0102	0.0007	0.0028	0.0008	0.355	0.12109	T	0.349	0.17531	T	0.171	0.28729	B	0.03	0.21741	B	.	.	.	.	1	0.08975	N	1.24	0.30952	L	5.06	0.01260	T	-0.48	0.15379	N	0.073	0.04668	-0.9251	0.44844	T	0.001	0.00287	T	9	0.010882914	0.00240	T	0.002278	0.04369	T	0.025	0.05312	.	.	0.225902525712	0.22197	0.21846926799487926	0.21762	.	.	0.36818510294	0.20571	T	0.001684	0.01111	T	-0.6557	0.00067	T	-0.792632	0.02093	T	0.00539495298113635	0.00058	T	0.39586	0.09952	T	0.020562895	0.00619	0.034223743	0.02451	0.020562895	0.00619	0.034223743	0.02450	-3.34	0.14259	T	.	.	0.066	0.02228	B	.	.	-0.350745	0.02404	0.268	0.61767355836450288	0.06792	0.01150	0.04159	N	AEFGBI	0.023257	0.01272	N	-1.17160867607647	0.05434	0.2476974	-1.24760222737288	0.05166	0.2455314	0.0583885366125283	0.15125	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.32	-5.31	0.02519	-1.565000	0.02254	-0.815000	0.07319	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.606000	0.31539	0.1504:0.3003:0.2506:0.2987	0.878	0.01149	516	0.74704	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2368.98	34	chr6	28287104	.	A	G	2368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.610e+00;DP=968;ExcessHet=0.0000;FS=1.600;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.83;ReadPosRankSum=-1.213e+00;SOR=0.568	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr6	28300900	28300900	G	A	exonic	PGBD1	.	nonsynonymous SNV	PGBD1:NM_001184743:exon7:c.G1046A:p.R349Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.82	P	0.109	B	0.329	N	0.738	N	0.695	N	4.78	T	-0.834	T	0.001	T	0.431	3.518	17.97	3.67	1.262	1.541	8.409	0.081	0.00993119052319	.	.	8.251e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs761161062	1.095e-05	1.094e-05	9.529e-06	1.238e-05	6.956e-05	6.48e-06	5.24e-06	2.995e-05	2.038e-05	0	0	0	2.519e-05	0	0	8.094e-06	0	6.956e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.088	0.40586	T	0.82	0.45712	P	0.109	0.31370	B	0.329011	0.14145	N	0.527834	0.738206	0.29761	N	2.43	0.70455	M	4.78	0.01551	T	-0.18	0.09796	N	0.376	0.41754	-0.8336	0.53068	T	0.001	0.00467	T	10	0.19606322	0.35483	T	0.009931	0.25856	T	0.081	0.23632	0.304	0.27325	0.282575091529	0.27877	0.2188553802591615	0.21801	.	.	0.483104348183	0.36484	T	0.00719	0.06605	T	-0.136109	0.30513	T	-0.433287	0.29563	T	0.672287225723267	0.39440	D	0.827217	0.49094	T	0.050953947	0.09284	0.06349461	0.12585	0.050953947	0.09284	0.06349461	0.12585	-3.413	0.15232	T	.	.	0.160	0.35456	B	.	.	3.358990	0.46366	22.3	0.99953766010085221	0.99963	0.56753	0.30198	D	AEFDBHI	0.072521	0.14475	N	-0.0526057097821846	0.39485	2.329318	0.0355588061399994	0.41378	2.48499	0.92491059707496	0.26796	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.54	3.67	0.41236	1.560000	0.35939	3.081000	0.36240	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.998000	0.85391	0.1067:0.0:0.8933:0.0	8.409	0.31795	527	0.73864	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2028.98	35	chr6	28300900	.	G	A	2028.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.300e-02;DP=1379;ExcessHet=0.0000;FS=3.062;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.03;ReadPosRankSum=0.629;SOR=0.955	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr6	28391325	28391325	A	-	exonic	ZSCAN12	.	frameshift deletion	ZSCAN12:NM_001163391:exon4:c.965delT:p.I322Kfs*304	.	.	424	1068	30	0	0	30	0.0138504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0.00678914	0.0125	0.0007	0.0093	0.0030	0	0.0021	0.0155	0.0332	0.0005763	15	26028	rs371660996	0.0027	0.0026	0.0017	0.0038	0.0360	0.0026	0.0026	0.0349	0.0345	0	0.0004	0.0064	0.0016	0	0.0044	0.0005	0.0034	0.0360	0.0018	0.0018	0.0013	0.0023	0.0344	0.0016	0.0015	0.0301	0.0285	0.0003	0	0.0005	0.0052	0.0025	0.0002	0.0068	0.0007	0.0033	0.0344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1615.94	112	chr6	28391324	.	TA	T	1615.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.803;DP=1367;ExcessHet=0.0000;FS=4.659;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.43;ReadPosRankSum=0.784;SOR=0.676	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1373	20	0	1	0
chr6	28435078	28435078	T	A	exonic	ZSCAN23	.	nonsynonymous SNV	ZSCAN23:NM_001012455:exon4:c.A557T:p.D186V,	.	.	437	1070	13	2	0	17	0.00788132	0.0035	0.198	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.001	B	0.003	B	0.143	N	0.974	D	1.845	L	3.39	T	-0.965	T	0.006	T	0.197	1.867	12.20	0.477	-0.075	-0.213	2.591	0.055	.	.	.	0.0002	0.0006	0	0	0	0	0.0062	0.0002	2.59e-05	4	154602	rs768184339	7.44e-05	7.388e-05	7.312e-05	7.572e-05	0.0034	6.234e-05	5.818e-05	0.0023	0.0019	3.318e-05	0.0006	0.0002	0	0	0.0034	4.225e-05	0.0002	5.244e-05	0.0001	0.0001	8.997e-05	0.0001	0.0005	7.09e-05	5.747e-05	0.0002	0.0002	7.223e-05	0	0.0005	0	0	0	0.0034	5.881e-05	0.0009	0	0.218	0.19090	T	0.128	0.34959	T	0.001	0.07471	B	0.003	0.08700	B	0.143230	0.18217	N	0.409734	0.973669	0.39042	D	2.35	0.67516	M	3.39	0.05710	T	-4.83	0.80943	D	0.21	0.23380	-0.9651	0.38191	T	0.006	0.01981	T	10	0.052782416	0.05365	T	0.002135	0.03962	T	0.055	0.15663	.	.	0.329020015101	0.32502	0.25952741445275024	0.25866	0.380450103368	0.39413	0.246379107237	0.03396	T	0.098056	0.40149	T	-0.507394	0.00519	T	-0.619441	0.11229	T	0.179459199309349	0.19201	T	0.573543	0.20534	T	0.17597505	0.38486	0.12403049	0.29902	0.17597505	0.38486	0.12403049	0.29901	-4.018	0.24072	T	.	.	0.235	0.46802	B	.	.	1.409454	0.18245	13.63	0.90017490177584891	0.19307	0.08993	0.14835	N	AEFBI	0.120583	0.23484	N	-0.714267508158868	0.15620	0.788786	-0.716350446275307	0.16553	0.8762617	0.0045899190490222	0.10627	0.651	0.46895	0	0.588066	0.40923	0	0.65145	0.50148	0	0.567892	0.33627	0	.	.	4.37	0.477	0.15995	-0.401000	0.07293	-0.376000	0.09574	0.665000	0.62972	0.013000	0.18845	0.006000	0.19429	0.985000	0.61073	0.2137:0.2387:0.0:0.5476	2.591	0.04548	624	0.65661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	478.98	37	chr6	28435078	.	T	A	478.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.190e+00;DP=609;ExcessHet=0.0000;FS=1.744;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.52;ReadPosRankSum=-4.880e-01;SOR=1.179	GT:AD:DP:GQ:PL	0/0:22,0:22:60:0,60,900	20	0	1	0
chr6	28435906	28435906	T	C	exonic	ZSCAN23	.	nonsynonymous SNV	ZSCAN23:NM_001012455:exon2:c.A361G:p.T121A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.128	B	0.042	B	0.133	N	1.000	N	0.61	N	3.44	T	-0.928	T	0.003	T	0.052	1.035	9.229	-0.255	-0.045	-0.773	3.407	0.072	0.00108397699204	.	0.000798722	0.0008	0	0.0003	0.0001	0	9.191e-05	0.0012	0.0055	0.0006339	98	154602	rs369000893	0.0003	0.0003	0.0002	0.0005	0.0044	0.0003	0.0003	0.0040	0.0038	0	0.0007	0.0009	2.519e-05	0	0.0003	2.339e-05	0.0005	0.0044	0.0002	0.0002	0.0002	0.0003	0.0052	0.0002	0.0001	0.0036	0.0031	0	0	0.0003	0.0009	0	0	0	2.941e-05	0	0.0052	0.237	0.17881	T	0.127	0.35082	T	0.003	0.11197	B	0.003	0.08700	B	0.133222	0.18558	N	0.440957	1	0.08975	N	0.48	0.13178	N	3.44	0.05375	T	-2.73	0.58085	D	0.126	0.11912	-0.9278	0.44458	T	0.003	0.00832	T	10	0.007630825	0.00173	T	0.001084	0.01263	T	0.072	0.21020	.	.	0.250039746154	0.24611	0.16612402364398482	0.16532	0.255294500027	0.28121	0.462987750769	0.33720	T	0.02166	0.16829	T	-0.711602	0.00031	T	-0.79454	0.02042	T	0.0112087393638528	0.00165	T	0.391661	0.09743	T	0.08947653	0.20906	0.07341964	0.15953	0.08947653	0.20906	0.07341964	0.15953	-3.845	0.21478	T	.	.	0.119	0.24363	B	.	.	0.882319	0.12556	9.084	0.92495483802694345	0.21931	0.01064	0.03948	N	AEFBI	0.043401	0.06855	N	-1.06657423351384	0.07266	0.337027	-1.06001535151735	0.08498	0.4181905	0.00441953795529767	0.10545	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	3.62	-0.255	0.12346	-0.259000	0.08742	-2.175000	0.04103	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.999000	0.91618	0.0:0.2379:0.2195:0.5426	3.407	0.06921	624	0.65661	SCAN domain|SCAN domain|SCAN domain|SCAN domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1722.98	36	chr6	28435906	.	T	C	1722.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=962;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.47;ReadPosRankSum=0.811;SOR=0.706	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr6	28529593	28529593	C	T	exonic	GPX5	.	nonsynonymous SNV	GPX5:NM_001509:exon2:c.C230T:p.A77V	.	.	437	1053	31	1	0	33	0.0154278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.966	D	0.356	B	0.841	N	1.000	N	0.515	N	3.12	T	-0.979	T	0.004	T	0.114	1.483	10.91	-0.199	-0.076	-0.360	3.265	0.104	0.0034201727032	0.0014	0.00159744	0.0028	0	0.0015	0.0003	0	0.0025	0.0067	0.0090	0.0023932	370	154602	rs145161873	0.0018	0.0018	0.0014	0.0021	0.0113	0.0017	0.0017	0.0091	0.0086	9.019e-05	0.0013	0.0291	0.0002	0	0.0113	0.0006	0.0038	0.0093	0.0013	0.0013	0.0013	0.0013	0.0089	0.0012	0.0011	0.0068	0.0061	0.0001	0	0.0009	0.0254	0	0	0.0136	0.0006	0.0014	0.0089	0.653	0.19293	T	0.57	0.39190	T	0.068	0.23728	B	0.007	0.12992	B	0.841296	0.07001	N	1.076350	1	0.08975	N	-0.69	0.01958	N	3.12	0.08106	T	0.39	0.22508	N	0.146	0.25499	-0.9785	0.35345	T	0.004	0.01400	T	10	0.0074159503	0.00169	T	0.00342	0.07694	T	0.104	0.29647	.	.	0.197625483188	0.19356	0.1980378864844265	0.19720	0.14692160482	0.16579	0.291478693485	0.09137	T	0.027063	0.19900	T	-0.685696	0.00044	T	-0.750198	0.03478	T	0.025681993804498	0.01363	T	.	.	.	0.123513326	0.29001	0.1075086	0.25882	0.123513326	0.29001	0.1075086	0.25881	-3.861	0.35814	T	.	.	0.109	0.20702	B	.;.	.;.	1.372705	0.17831	13.39	0.95041436406744417	0.26048	0.01455	0.04870	N	AEFBI	0.035921	0.04701	N	-0.934270913760009	0.10048	0.4783497	-0.976882144630471	0.10305	0.5181954	0.304501700985108	0.19223	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.72	-0.199	0.12571	-0.098000	0.10993	-0.926000	0.06901	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.980000	0.58198	0.1861:0.3887:0.0:0.4252	3.265	0.06457	675	0.60470	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1899.11	40	chr6	28529593	.	C	T	1899.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.96;DP=850;ExcessHet=0.1072;FS=1.960;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=-5.940e-01;SOR=0.896	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1355	19	0	2	0
chr6	29044325	29044325	C	T	exonic	OR2W1	.	nonsynonymous SNV	OR2W1:NM_030903:exon1:c.G851A:p.S284N,	.	.	431	1076	15	0	0	15	0.00692201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.94	D	0.000	D	0.504	D	1.2	L	1.12	T	-0.980	T	0.098	T	0.121	3.495	17.87	3.85	2.175	0.502	7.224	0.129	0.00262788612297	.	0.000798722	0.0006	0.0001	0.0018	0	0	0.0003	0.0023	0.0014	0.0005239	81	154602	rs184513987	0.0004	0.0004	0.0003	0.0004	0.0022	0.0003	0.0003	0.0018	0.0017	5.975e-05	0.0022	0	5.038e-05	3.825e-05	0.0021	0.0003	0.0006	0.0010	0.0006	0.0006	0.0005	0.0006	0.0029	0.0005	0.0004	0.0022	0.0020	0.0002	0	0.0029	0	0	0	0	0.0004	0.0019	0.0006	0.044	0.41096	D	0.009	0.66756	D	0.998	0.73220	D	0.94	0.67560	D	0.000454	0.44317	D	0.100730	0.50365	0.31762	D	1.28	0.32218	L	1.12	0.38718	T	-1.55	0.37566	N	0.159	0.16586	-0.9797	0.35071	T	0.098	0.36754	T	10	0.023964196	0.00643	T	0.002628	0.05349	T	0.129	0.35316	.	.	0.485920709088	0.48224	0.2233275787852587	0.22247	0.431796011397	0.43370	0.189784154296	0.00221	T	0.069574	0.33743	T	-0.554311	0.00275	T	-0.574864	0.15006	T	0.0525696087280453	0.05946	T	.	.	.	0.35048017	0.57105	0.61600435	0.77646	0.35048017	0.57105	0.61600435	0.77647	-7.732	0.59230	D	.	.	0.501	0.64649	A	.	.	2.898366	0.38406	20.7	0.99625972783966088	0.75716	0.12486	0.17298	N	AEFBI	0.125513	0.24205	N	0.237739127686109	0.53037	3.474397	0.173753230371986	0.48415	3.05762	0.0490267628433473	0.14790	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.79	3.85	0.43556	1.556000	0.35895	-11.258000	0.00621	0.531000	0.24825	0.001000	0.13787	0.000000	0.08366	0.996000	0.76049	0.2696:0.5735:0.1569:0.0	7.224	0.25179	749	0.51929	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	922.98	33	chr6	29044325	.	C	T	922.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=1423;ExcessHet=0.0000;FS=1.914;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=-6.600e-01;SOR=1.016	GT:AD:DP:GQ:PL	0/0:125,0:125:99:0,120,1800	20	0	1	0
chr6	29086317	29086317	C	T	exonic	OR2B3	.	nonsynonymous SNV	OR2B3:NM_001005226:exon1:c.G932A:p.C311Y,	.	.	435	1082	5	0	0	5	0.00230521	.	.	3363418	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.562	N	1.000	N	0.345	N	1.2	T	-1.043	T	0.011	T	0.085	-0.851	0.547	-6.43	-1.736	-0.556	6.081	0.015	0.000933220802558	.	.	1.808e-05	0	0	0	0	3.142e-05	0	0	2.59e-05	4	154602	rs778953672	4.148e-05	4.515e-05	4.611e-05	3.678e-05	0.0007	3.266e-05	2.991e-05	0.0002	0.0001	0.0002	0.0002	0	0	0	0.0007	2.837e-05	0.0001	4.981e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	6.546e-05	5.24e-06	2.45e-06	.	.	2.412e-05	0	6.546e-05	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	0.29	0.21011	T	0.0	0.02946	B	0.0	0.01387	B	0.561578	0.05427	N	1.411670	1	0.08975	N	1.845	0.48678	L	1.2	0.37405	T	-0.12	0.08809	N	0.131	0.12627	-1.0426	0.16532	T	0.011	0.03903	T	10	0.04382524	0.03272	T	9.33E-4	0.00911	T	0.015	0.02232	0.358	0.36060	0.132336055621	0.12781	0.2240930004227983	0.22324	0.0212929991786	0.02108	0.35268586874	0.18317	T	0.021881	0.16964	T	-0.507135	0.00521	T	-0.717932	0.04897	T	0.0195209183673353	0.00656	T	.	.	.	0.10560947	0.24970	0.1317191	0.31624	0.10560947	0.24970	0.1317191	0.31623	-3.555	0.17211	T	.	.	0.074	0.05060	B	.	.	-0.825592	0.01058	0.046	0.23326708355654011	0.00981	0.00251	0.01383	N	AEFI	0.017335	0.00448	N	-1.73784868487605	0.00716	0.0309129	-1.81165283444648	0.00723	0.03219904	0.00158637098702673	0.08668	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.22	-6.43	0.01754	-1.621000	0.02147	.	.	-1.250000	0.01303	0.000000	0.06391	0.000000	0.08366	0.189000	0.21571	0.257:0.4957:0.0:0.2474	6.081	0.19164	754	0.51307	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	610.98	42	chr6	29086317	.	C	T	610.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.91;DP=752;ExcessHet=0.0000;FS=1.240;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.22;ReadPosRankSum=1.25;SOR=1.037	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr6	29173645	29173645	A	T	exonic	OR2J2	.	stopgain	OR2J2:NM_030905:exon1:c.A10T:p.K4X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.298	13.64	-1.47	-0.521	-0.847	3.940	.	.	0.0002	.	7.122e-05	0	0	0	0	7.74e-05	0	0.0003	6.47e-05	10	154602	rs201438710	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	9.783e-05	0.0001	0.0001	0.0001	2.456e-05	4.055e-05	2.529e-05	0	0	0.0001	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.834e-05	0.0001	0.0001	0.0003	0	6.602e-05	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.014	0.00160	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.303276	0.08355	T	-0.319378	0.42642	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant	.;High	4.384543	0.67615	25.1	0.88336091210123224	0.17896	0.00698	0.02970	N	AEBI	0.019631	0.00699	N	-0.573936991143795	0.19739	1.03545	-0.98230374765578	0.10183	0.5112421	2.2074497366645E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.48	-1.47	0.08312	-0.265000	0.08671	.	.	-0.622000	0.04550	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.4118:0.179:0.4092:0.0	3.940	0.08820	759	0.50631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1677.98	60	chr6	29173645	.	A	T	1677.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.700e-02;DP=930;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=-1.320e-01;SOR=0.680	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1313	20	0	1	0
chr6	29174110	29174110	C	G	exonic	OR2J2	.	nonsynonymous SNV	OR2J2:NM_030905:exon1:c.C475G:p.L159V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.005	B	0.024	B	.	.	1.000	N	-0.165	N	1.15	T	-0.923	T	0.011	T	0.121	-3.376	0.001	1.37	0.261	-1.645	7.674	0.019	0.001500723617	8.2e-05	.	1.657e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs371534901	1.369e-06	2.394e-05	0	2.752e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	1.979e-05	1.972e-05	2.577e-05	1.352e-05	7.273e-05	5.26e-06	2.46e-06	1.929e-05	1.034e-05	7.273e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.15	0.38236	T	0.96	0.01488	N	0.029	0.00666	-0.9233	0.45098	T	0.011	0.04181	T	9	0.042119116	0.02930	T	0.001501	0.02318	T	0.019	0.03383	.	.	0.238705975628	0.23479	0.08282110823060854	0.08217	0.0741517770283	0.08315	0.198077693582	0.00403	T	.	.	.	-0.451935	0.01100	T	-0.705422	0.05534	T	0.0340307874556924	0.02643	T	0.630137	0.24490	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10642	B	.;.	.;.	0.231638	0.06126	2.574	0.053242049265392132	0.00010	0.00891	0.03504	N	AEFGBI	0.033660	0.04036	N	-1.2309376549323	0.04557	0.205914	-1.17719845359601	0.06292	0.3024219	6.20628665476017E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.3	1.37	0.21200	-1.227000	0.03060	.	.	0.294000	0.18828	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.4515:0.5485:0.0:0.0	7.674	0.27642	759	0.50631	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02778	222.09	210	chr6	29174110	.	C	G	222.09	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-7.172e+00;DP=4911;ExcessHet=0.0000;FS=385.495;InbreedingCoeff=-0.0633;MLEAC=1;MLEAF=0.028;MQ=59.90;MQRankSum=0.929;QD=0.69;ReadPosRankSum=0.857;SOR=9.230	GT:AD:DP:GQ:PL	0/0:323,0:323:99:0,120,1800	17	0	1	3
chr6	29396908	29396908	G	T	exonic	OR12D2	.	nonsynonymous SNV	OR12D2:NM_013936:exon1:c.G209T:p.C70F,	.	.	436	1026	55	3	2	63	0.0288689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.005	B	0.008	B	0.000	D	1.000	N	2.33	M	-1.23	T	-0.710	T	0.229	T	0.182	-0.744	0.833	2.22	0.335	0.409	10.202	0.188	.	0.0053	0.00479233	0.0063	0.0012	0.0044	0.0002	0.0053	0.0065	0.0069	0.0130	0.005705	882	154602	rs36210740	0.0058	0.0058	0.0055	0.0062	0.0265	0.0057	0.0057	0.0231	0.0218	0.0017	0.0055	0.0119	7.557e-05	0.0045	0.0265	0.0053	0.0065	0.0141	0.0051	0.0051	0.0051	0.0052	0.0133	0.0048	0.0047	0.0107	0.0097	0.0017	0.0088	0.0056	0.0124	0.0002	0.0049	0.0102	0.0065	0.0071	0.0133	.	.	.	.	.	.	0.005	0.12996	B	0.008	0.13708	B	0.000217	0.47681	D	0.093597	0.999788	0.20372	N	0.915	0.23335	L	.	.	.	.	.	.	.	.	-0.7101	0.59947	T	0.229	0.59434	T	10	0.006487787	0.00147	T	.	.	.	.	.	.	.	.	.	0.17590871544809583	0.17509	.	.	0.250938415527	0.03867	T	0.008906	0.08144	T	-0.460558	0.00976	T	-0.422012	0.30845	T	0.0155577715639851	0.00353	T	0.59804	0.22252	T	0.17767172	0.38745	0.26035833	0.51798	0.17767172	0.38745	0.26035833	0.51797	-6.265	0.48445	T	.	.	0.105	0.19438	B	.;.	.;.	0.379155	0.07510	4.157	0.74111386093232068	0.10574	0.02074	0.06175	N	AEFBI	0.029282	0.02736	N	-0.758143495804165	0.14413	0.717744	-0.849903892683557	0.13290	0.6886131	9.24015489445909E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.07	2.22	0.27116	0.853000	0.27431	.	.	0.400000	0.20548	0.000000	0.06391	0.000000	0.08366	0.180000	0.21296	0.0:0.1475:0.6996:0.1529	10.202	0.42266	814	0.42100	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	6427.11	34	chr6	29396908	.	G	T	6427.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.54;DP=3467;ExcessHet=0.1072;FS=1.101;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=-1.034e+00;SOR=0.621	GT:AD:DP:GQ:PL	0/1:169,117:286:99:3152,0,4521	19	0	2	0
chr6	29396952	29396952	T	C	exonic	OR12D2	.	nonsynonymous SNV	OR12D2:NM_013936:exon1:c.T253C:p.S85P,	.	.	433	1086	2	1	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.985	D	0.845	P	0.001	D	1.000	N	2.765	M	4.99	T	-0.991	T	0.007	T	0.12	0.582	7.140	1.33	0.074	-1.324	6.430	0.056	.	0.0070	0.0071885	0.0021	0.0199	0.0027	0	0	0.0004	0.0034	6.15e-05	0.0021086	326	154602	rs36210742	0.0011	0.0011	0.0012	0.0010	0.0208	0.0010	0.0010	0.0195	0.0190	0.0208	0.0033	0.0018	0	1.911e-05	0.0029	0.0005	0.0022	8.115e-05	0.0069	0.0069	0.0069	0.0068	0.0212	0.0065	0.0064	0.0201	0.0196	0.0212	0	0.0067	0.0012	0	0	0.0068	0.0005	0.0085	0	.	.	.	.	.	.	0.985	0.61118	D	0.845	0.60432	P	0.000643	0.42656	D	0.105404	1	0.08975	N	1.665	0.42610	L	.	.	.	.	.	.	.	.	-0.9906	0.32449	T	0.007	0.02360	T	10	0.0047141314	0.00099	T	.	.	.	.	.	.	.	.	.	0.2880232652262954	0.28715	.	.	0.221697181463	0.01410	T	0.008825	0.08077	T	-0.66199	0.00061	T	-0.705426	0.05534	T	0.0544882621581406	0.06272	T	0.715628	0.32820	T	0.43667436	0.63188	0.67305386	0.80810	0.43667436	0.63188	0.67305386	0.80811	-9.688	0.72023	D	.	.	0.182	0.39459	B	.;.	.;.	2.642780	0.34393	19.61	0.94938679103200041	0.25830	0.03101	0.08031	N	AEFBI	0.097524	0.19667	N	-0.521525425855912	0.21384	1.135	-0.788336593465527	0.14781	0.7741172	1.44334063771775E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.9	1.33	0.20958	-0.978000	0.03888	.	.	0.409000	0.20633	0.000000	0.06391	0.000000	0.08366	0.055000	0.15596	0.1463:0.0:0.3028:0.5509	6.430	0.20993	814	0.42100	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	4654.98	34	chr6	29396952	.	T	C	4654.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.669e+00;DP=3816;ExcessHet=0.0000;FS=3.238;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.09;ReadPosRankSum=1.80;SOR=0.547	GT:AD:DP:GQ:PL	0/0:285,0:285:99:0,120,1800	20	0	1	0
chr6	29397609	29397609	A	C	exonic	OR12D2	.	nonsynonymous SNV	OR12D2:NM_013936:exon1:c.A910C:p.I304L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.0	B	0.002	B	0.774	N	1.000	N	-0.355	N	1.61	T	-0.954	T	0.007	T	0.099	0.974	8.974	-2.78	-0.822	.	2.200	0.007	0.00173146069727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.02946	B	0.002	0.06944	B	0.774222	0.09523	N	0.879155	0.999997	0.08975	N	-0.595	0.02246	N	.	.	.	.	.	.	.	.	-0.9541	0.40256	T	0.007	0.02360	T	10	0.06357747	0.08303	T	0.001731	0.02908	T	.	.	0.393	0.41770	.	.	0.07115039063054068	0.07052	.	.	0.347330212593	0.17529	T	0.001486	0.00934	T	-0.363354	0.03944	T	-0.759709	0.03123	T	0.039015582730998	0.03513	T	0.266073	0.04370	T	0.06404379	0.13547	0.04895497	0.07378	0.06404379	0.13547	0.04895497	0.07378	-2.776	0.07964	T	.	.	0.072	0.04316	B	.;.	.;.	-0.276118	0.02723	0.359	0.8635056003497118	0.16477	0.01511	0.04995	N	AEFBI	0.029800	0.02881	N	-1.36529025257687	0.02969	0.1319363	-1.35176829231769	0.03785	0.1772732	3.74122897934771E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.94	-2.78	0.05512	-0.644000	0.05512	.	.	0.449000	0.21268	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3457:0.1731:0.3615:0.1197	2.200	0.03681	814	0.42100	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1674.98	41	chr6	29397609	.	A	C	1674.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.98;DP=1324;ExcessHet=0.0000;FS=4.803;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=-9.890e-01;SOR=1.181	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr6	29427172	29427172	T	G	exonic	OR11A1	.	nonsynonymous SNV	OR11A1:NM_013937:exon2:c.A470C:p.D157A,	.	.	436	1074	12	0	0	12	0.00555556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.003	B	0.012	B	0.000	N	1.000	N	-1.92	N	1.49	T	-0.996	T	0.006	T	0.394	-1.006	0.251	1.25	0.517	-0.853	7.540	0.094	0.00539185204144	0.0004	0.000199681	0.0006	0.0001	0	0.0009	0	0.0004	0.0011	0.0019	0.0004592	71	154602	rs139568093	0.0004	0.0004	0.0003	0.0004	0.0024	0.0003	0.0003	0.0020	0.0019	0	2.236e-05	0	0.0005	0	0.0024	0.0002	0.0005	0.0023	0.0003	0.0003	0.0003	0.0003	0.0023	0.0003	0.0002	0.0013	0.0010	0.0001	0	6.537e-05	0	0.0014	0	0.0034	0.0003	0.0014	0.0023	0.867	0.02625	T	0.849	0.03517	T	0.003	0.11197	B	0.012	0.16012	B	0.000392	0.00589	N	5.280830	1	0.08975	N	-2.615	0.00041	N	1.49	0.31470	T	0.62	0.02442	N	0.086	0.06322	-0.9959	0.31055	T	0.006	0.02131	T	10	0.005760461	0.00128	T	0.005392	0.13832	T	0.094	0.27141	.	.	0.0297737177859	0.01360	0.4460887136099381	0.44526	0.17708213508	0.19927	0.372715651989	0.21221	T	6.2E-5	0.00005	T	-0.533701	0.00365	T	-0.542765	0.18025	T	0.0108661715163328	0.00155	T	.	.	.	0.109900504	0.25981	0.16747878	0.38635	0.109900504	0.25980	0.16747878	0.38634	-2.222	0.04148	T	.	.	0.209	0.43626	B	.;.;.;.	.;.;.;.	1.067987	0.14499	11.07	0.83864696785493886	0.14963	0.00874	0.03459	N	AEFBI	0.030595	0.03109	N	-1.17842585505789	0.05326	0.2425679	-1.03001907905769	0.09129	0.4524536	1.37453442944266E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.78	1.25	0.20475	-0.146000	0.10233	.	.	0.528000	0.24546	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.0:0.1956:0.0:0.8044	7.540	0.26904	819	0.41190	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1690.98	38	chr6	29427172	.	T	G	1690.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.730e-01;DP=969;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.33;ReadPosRankSum=0.327;SOR=0.677	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr6	29440841	29440841	T	A	exonic	OR10C1	.	nonsynonymous SNV	OR10C1:NM_013941:exon1:c.T826A:p.F276I,	.	.	423	1094	5	0	0	5	0.00227998	.	.	3366718	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.999	D	0.988	D	0.001	N	1.000	D	1.775	L	8.59	T	-0.572	T	0.001	T	0.419	3.629	18.46	3.54	1.478	-0.237	11.949	0.104	0.00897507800541	0.0002	.	0.0001	0.0008	0	0	0	9.425e-05	0.0011	6.142e-05	9.7e-05	15	154602	rs146670709	8.484e-05	8.482e-05	9.259e-05	7.702e-05	0.0012	7.21e-05	6.798e-05	0.0006	0.0005	0.0008	0.0002	0	0	0	0.0012	4.317e-05	0.0004	0.0001	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	0.0001	0.0004	0.0003	0.0005	0	6.542e-05	0	0	0	0	2.94e-05	0	0.0002	0.066	0.36113	T	.	.	.	0.999	0.77913	D	0.988	0.77976	D	0.001070	0.40389	N	0.000000	0.584502	0.81001	D	1.81	0.47622	L	8.59	0.00172	T	-3.54	0.68651	D	.	.	-0.5716	0.65951	T	0.001	0.00222	T	10	0.1058687	0.19590	T	0.008975	0.23631	T	0.104	0.29647	.	.	0.1749357433	0.17121	0.19670069149597033	0.19587	1.26958207487	0.82244	0.215960562229	0.01089	T	0.011099	0.09944	T	-0.352316	0.04582	T	-0.381944	0.35495	T	0.0826087743367967	0.10318	T	.	.	.	0.3216202	0.54776	0.28030849	0.54005	0.3216202	0.54776	0.28030849	0.54004	-7.049	0.54390	T	.	.	0.210	0.43815	B	.;.	.;.	2.625579	0.34132	19.54	0.99146901023779577	0.53709	0.17853	0.20015	N	AEFBI	0.117419	0.23003	N	0.169055124981142	0.49717	3.168973	0.0465461063381761	0.41904	2.525482	1.04855641214508E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.54	3.54	0.39650	-1.176000	0.03209	.	.	-0.146000	0.12295	0.000000	0.06391	0.000000	0.08366	0.732000	0.35165	0.0:0.0:0.0:1.0	11.949	0.52232	819	0.41190	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2322.98	41	chr6	29440841	.	T	A	2322.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.327e+00;DP=1021;ExcessHet=0.0000;FS=2.669;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=-2.520e-01;SOR=0.935	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr6	29487736	29487736	G	A	exonic	MAS1L	.	nonsynonymous SNV	MAS1L:NM_052967:exon1:c.C167T:p.T56M,	.	.	427	1083	12	0	0	12	0.00550964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.918	P	0.225	B	.	.	1.000	N	0	N	3.77	T	-0.915	T	0.002	T	0.094	1.007	9.113	-1.59	-0.680	-0.612	4.140	0.037	.	0.0007	0.0109824	0.0028	0.0016	0.0002	0.0087	0	0.0003	0.0022	0.0133	0.0026843	415	154602	rs142885717	0.0011	0.0011	0.0008	0.0013	0.0115	0.0010	0.0010	0.0109	0.0106	0.0019	0.0003	0	0.0040	0	0.0029	0.0002	0.0023	0.0115	0.0014	0.0014	0.0013	0.0016	0.0145	0.0013	0.0012	0.0118	0.0108	0.0018	0	0.0004	0	0.0110	0	0	0.0001	0.0009	0.0145	0.107	0.29554	T	0.065	0.44702	T	0.918	0.50838	P	0.225	0.38015	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.77	0.03863	T	-1.52	0.36980	N	0.076	0.05037	-0.9146	0.46272	T	0.002	0.00676	T	9	0.0042514205	0.00085	T	.	.	.	0.037	0.09474	.	.	0.0138822411134	0.00435	0.11571563397725129	0.11499	0.27458894327	0.29952	0.484112679958	0.36623	T	0.021198	0.16551	T	-0.687635	0.00043	T	-0.750129	0.03480	T	0.0171048496985672	0.00456	T	.	.	.	0.016203921	0.00182	0.053636678	0.09072	0.016203921	0.00182	0.053636678	0.09072	-4.093	0.25187	T	.	.	0.099	0.16494	B	.	.	0.896818	0.12707	9.227	0.98782050059167692	0.46143	0.00610	0.02709	N	AEFBHCI	0.024797	0.01593	N	-1.14072334631568	0.05934	0.2718551	-1.33887947559064	0.03939	0.1847746	9.94293221331275E-4	0.08103	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.811	-1.59	0.08003	0.063000	0.14285	.	.	-0.630000	0.04515	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.4912:0.0:0.5088:0.0	4.140	0.09657	824	0.40336	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3243.98	35	chr6	29487736	.	G	A	3243.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.87;DP=1084;ExcessHet=0.0000;FS=1.296;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.07;ReadPosRankSum=-9.840e-01;SOR=0.588	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1390	20	0	1	0
chr6	29588533	29588533	G	A	exonic	OR2H2	.	nonsynonymous SNV	OR2H2:NM_007160:exon1:c.G589A:p.V197M,	.	.	435	1085	2	0	0	2	0.00092081	.	.	3363496	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.33	T	0.0	B	0.0	B	0.045	N	1.000	N	0.97	L	8.63	T	-0.935	T	0.000	T	0.077	-0.991	0.273	3.06	0.184	-0.858	3.925	0.020	0.00171774340833	.	0.000199681	0.0001	0	0	0.0001	0	0.0002	0	6.15e-05	8.41e-05	13	154602	rs550521803	8.336e-05	6.097e-05	6.873e-05	9.635e-05	0.0004	6.657e-05	6.052e-05	8.456e-05	7.585e-05	0.0001	6.83e-05	0	0	0	0.0004	0.0001	0.0001	0	6.566e-05	6.562e-05	5.14e-05	8.055e-05	0.0002	3.514e-05	2.614e-05	4.765e-05	3.339e-05	4.812e-05	0	0	0	0.0002	0	0	0.0001	0	0	0.41	0.10148	T	0.747	0.04860	T	0.0	0.02946	B	0.0	0.01387	B	0.044602	0.23620	N	0.313478	1	0.08975	N	0.2	0.09183	N	8.63	0.00155	T	0.22	0.04694	N	0.045	0.01740	-0.9353	0.43349	T	0.000	0.00039	T	10	0.019953966	0.00452	T	0.001718	0.02882	T	0.020	0.03691	.	.	0.0716867268079	0.06686	0.14813837785421557	0.14735	0.182389391068	0.20501	0.277507454157	0.07147	T	0.003432	0.02839	T	-0.559999	0.00254	T	-0.772876	0.02674	T	0.0242720778260924	0.01180	T	.	.	.	0.029397454	0.02427	0.06375167	0.12674	0.029397454	0.02426	0.06375167	0.12674	-2.028	0.03288	T	.	.	0.098	0.16319	B	.;.	.;.	-0.408165	0.02182	0.215	0.60767046354678056	0.06543	0.01084	0.03998	N	AEFDBI	0.027575	0.02279	N	-1.0031420193163	0.08538	0.4007098	-0.963319383238702	0.10616	0.5357653	0.038866656311045	0.14367	0.660377	0.49826	0	0.59043	0.45803	0	0.696353	0.63694	0	0.530356	0.10902	0	.	.	4.24	3.06	0.34374	-1.771000	0.01887	.	.	-0.092000	0.16129	0.000000	0.06391	0.000000	0.08366	0.533000	0.29776	0.6634:0.0:0.1795:0.1571	3.925	0.08759	846	0.36215	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1849.98	40	chr6	29588533	.	G	A	1849.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.10;DP=1082;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.98;ReadPosRankSum=1.15;SOR=0.693	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr6	29588710	29588710	G	A	exonic	OR2H2	.	nonsynonymous SNV	OR2H2:NM_007160:exon1:c.G766A:p.V256I,	.	.	439	1058	25	0	0	25	0.0116768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.127	B	0.122	B	0.042	N	1.000	N	0.595	N	8.74	T	-1.026	T	0.000	T	0.349	1.344	10.42	4.1	2.095	1.006	6.149	0.103	.	0.0001	0.00599042	0.0067	0.0001	0.0006	0.0005	0	0.0004	0.0034	0.0451	0.0052975	819	154602	rs147023039	0.0030	0.0029	0.0014	0.0046	0.0443	0.0029	0.0029	0.0432	0.0427	3.211e-05	8.969e-05	0.0007	0.0004	0	0.0094	0.0002	0.0012	0.0443	0.0014	0.0014	0.0008	0.0019	0.0365	0.0012	0.0011	0.0321	0.0304	2.406e-05	0	6.533e-05	0.0006	0.0023	0	0	0.0002	0.0005	0.0365	0.21	0.19639	T	0.205	0.27145	T	0.127	0.26966	B	0.122	0.32387	B	0.042437	0.23843	N	0.209202	0.999996	0.58761	D	-0.17	0.04298	N	8.74	0.00084	T	-0.33	0.12472	N	0.178	0.19190	-1.0256	0.21886	T	0.000	0.00039	T	10	0.0038820803	0.00074	T	.	.	.	0.103	0.29403	.	.	0.16115917748	0.15686	0.052412846359074824	0.05183	0.16524632657	0.18640	0.215086326003	0.01045	T	0.002115	0.01518	T	-0.513781	0.00478	T	-0.476479	0.24821	T	0.0367894765877239	0.03119	T	.	.	.	0.06785004	0.14732	0.2535041	0.50999	0.06785004	0.14732	0.2535041	0.50998	-3.542	0.17025	T	.	.	0.089	0.12938	B	.;.	.;.	2.122607	0.27015	17.32	0.97411633701978251	0.33825	0.11678	0.16791	N	AEFBI	0.063953	0.12390	N	-0.379795791006554	0.26189	1.427469	-0.288588738300988	0.28473	1.587876	0.195256041529539	0.18050	0.421363	0.06395	0	0.563428	0.19063	0	0.536957	0.11973	0	0.530356	0.10902	0	.	.	4.1	4.1	0.47196	1.328000	0.33364	.	.	0.618000	0.50648	0.001000	0.13787	0.000000	0.08366	0.995000	0.73285	0.2114:0.0:0.7885:0.0	6.149	0.19517	846	0.36215	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	796.98	40	chr6	29588710	.	G	A	796.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=930;ExcessHet=0.0000;FS=2.018;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.71;MQRankSum=0.030;QD=12.08;ReadPosRankSum=-8.530e-01;SOR=0.968	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr6	29670209	29670209	C	T	exonic	MOG	.	nonsynonymous SNV	MOG:NM_001170418:exon5:c.C280T:p.P94S	.	.	0	1504	17	1	0	19	0.00627684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.007	B	0.005	B	0.002	N	1.000	N	0	N	3.03	T	-1.001	T	0.013	T	0.054	1.153	9.697	-0.587	-0.217	-2.885	2.704	0.017	0.00491589924895	0.0020	0.00159744	0.0017	0.0013	0.0017	0.0037	0.0002	0.0020	0.0011	0.0004	0.0016559	256	154602	rs144521033	0.0013	0.0013	0.0013	0.0013	0.0116	0.0012	0.0012	0.0094	0.0086	0.0021	0.0022	0.0002	0.0014	9.36e-05	0.0116	0.0013	0.0017	0.0003	0.0022	0.0023	0.0020	0.0025	0.0064	0.0020	0.0020	0.0054	0.0050	0.0022	0	0.0064	0.0003	0.0010	0.0004	0.0136	0.0019	0.0043	0.0002	0.183	0.35165	T	0.19	0.35455	T	0.007	0.14184	B	0.005	0.11217	B	0.001506	0.38793	N	0.000000	1	0.08975	N	.	.	.	3.03	0.34050	T	0.4	0.21003	N	0.148	0.15046	-1.0010	0.29631	T	0.013	0.05273	T	10	0.0040219426	0.00078	T	0.004916	0.12349	T	0.017	0.02790	.	.	0.112648838833	0.10856	.	.	.	.	.	.	.	.	.	.	-0.677932	0.00049	T	-0.750882	0.03452	T	0.00239444148097836	0.00025	T	0.523848	0.17156	T	.	.	.	.	.	.	.	.	-3.305	0.20999	T	.	.	0.091	0.15296	B	.;.;.	.;.;.	0.290783	0.06670	3.173	0.96267949237898709	0.29237	0.00374	0.01900	N	AEFBI	0.041934	0.06440	N	-1.34368122632657	0.03191	0.1421225	-1.41678482763821	0.03084	0.1431713	0.745841995104047	0.23283	0.497415	0.19182	0	0.59043	0.45803	0	0.514364	0.09456	0	0.542086	0.14980	0	.	.	1.51	-0.587	0.11104	-0.645000	0.05506	.	.	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.095000	0.18041	0.0:0.4759:0.3095:0.2146	2.704	0.04839	856	0.34373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	761.98	35	chr6	29670209	.	C	T	761.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.81;DP=746;ExcessHet=0.0000;FS=4.985;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=0.760;SOR=1.325	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1208	20	0	1	0
chr6	29672639	29672639	G	C	exonic	ZFP57	.	nonsynonymous SNV	ZFP57:NM_001366333:exon4:c.C1256G:p.T419S	Diabetes mellitus, transient neonatal, 1	.	0	1504	17	1	0	19	0.00627684	.	.	306735	ZFP57-related_disorder|Inborn_genetic_diseases|Diabetes_mellitus,_transient_neonatal,_1|not_provided|Monogenic_diabetes	.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011073,MedGen:C1832386,OMIM:601410,Orphanet:99886|MedGen:C3661900|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.24	T	0.001	B	0.001	B	0.591	N	1.000	N	0.06	N	3.73	T	-0.917	T	0.004	T	0.108	-0.502	1.701	2.1	0.590	0.539	5.460	0.024	0.00190118755506	0.0017	0.00139776	0.0017	0.0012	0.0017	0.0038	0.0002	0.0021	0.0012	0.0004	0.0015847	245	154602	rs184974475	0.0013	0.0013	0.0012	0.0013	0.0118	0.0012	0.0012	0.0095	0.0087	0.0020	0.0022	0.0002	0.0013	9.56e-05	0.0118	0.0013	0.0017	0.0003	0.0022	0.0022	0.0020	0.0024	0.0064	0.0020	0.0019	0.0054	0.0050	0.0021	0	0.0064	0.0003	0.0006	0.0004	0.0136	0.0019	0.0043	0.0002	0.712	0.06184	T	0.723	0.05327	T	0.001	0.07471	B	0.001	0.04355	B	0.590743	0.05590	N	1.274180	1	0.08975	N	.	.	.	3.5	0.05014	T	0.0	0.08033	N	0.101	0.08366	-0.9171	0.45945	T	0.004	0.01192	T	10	0.0045357347	0.00094	T	0.001901	0.03351	T	0.024	0.04979	0.402	0.43245	0.148003135375	0.14442	0.03766993490955309	0.03712	0.378906110955	0.39296	0.229772150517	0.01951	T	0.03042	0.21569	T	-0.69835	0.00037	T	-0.780834	0.02428	T	0.000544253170481843	0.00005	T	0.430757	0.11694	T	0.03004531	0.02601	0.035159912	0.02715	0.029300796	0.02403	0.038980663	0.03888	-2.821	0.08378	T	.	.	0.118	0.33504	B	.;.;.	.;.;.	0.037726	0.04550	1.238	0.45622253194593004	0.03594	0.07236	0.13259	N	AEFDBI	0.121750	0.23657	N	-1.02811104708398	0.08024	0.3747867	-1.02724837877177	0.09188	0.4557328	0.971970142574129	0.29332	0.549168	0.22868	0	0.627178	0.54094	0	0.536957	0.11973	0	0.542086	0.14980	0	.	.	3.9	2.1	0.26226	0.434000	0.21212	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1118:0.2044:0.6839:0.0	5.460	0.15907	856	0.34373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1150.98	38	chr6	29672639	.	G	C	1150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.501e+00;DP=793;ExcessHet=0.0000;FS=0.757;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=-1.619e+00;SOR=0.593	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1184	20	0	1	0
chr6	29673078	29673078	C	G	exonic	ZFP57	.	nonsynonymous SNV	ZFP57:NM_001366333:exon4:c.G817C:p.A273P	Diabetes mellitus, transient neonatal, 1	.	0	1504	17	1	0	19	0.00627684	.	.	895739	not_provided|ZFP57-related_disorder|Diabetes_mellitus,_transient_neonatal,_1|Monogenic_diabetes	MedGen:C3661900|.|MONDO:MONDO:0011073,MedGen:C1832386,OMIM:601410,Orphanet:99886|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.34	T	0.0	B	0.0	B	0.463	N	1.000	N	-0.385	N	3.62	T	-0.897	T	0.004	T	0.067	0.581	7.136	-0.054	-0.257	0.147	13.807	0.032	0.00624814265874	0.0019	0.00139776	0.0017	0.0014	0.0017	0.0038	0.0002	0.0021	0.0012	0.0004	0.0016106	249	154602	rs200537697	0.0013	0.0013	0.0012	0.0013	0.0118	0.0012	0.0012	0.0095	0.0087	0.0021	0.0022	0.0002	0.0013	9.558e-05	0.0118	0.0013	0.0017	0.0003	0.0022	0.0022	0.0020	0.0024	0.0064	0.0020	0.0019	0.0054	0.0050	0.0022	0	0.0064	0.0003	0.0006	0.0004	0.0136	0.0018	0.0043	0.0002	0.373	0.14449	T	0.6	0.15255	T	0.0	0.02946	B	0.0	0.01387	B	0.463105	0.04882	N	1.433100	1	0.08975	N	.	.	.	3.39	0.05710	T	-0.32	0.13035	N	0.059	0.03069	-0.8972	0.48273	T	0.004	0.01125	T	10	0.0032929778	0.00057	T	0.006248	0.16406	T	0.032	0.07718	.	.	0.115124310173	0.11017	0.14650678569100284	0.14572	0.545258417384	0.51564	0.20549055934	0.00634	T	0.031246	0.21951	T	-0.708877	0.00032	T	-0.795333	0.02022	T	0.00105308816652138	0.00010	T	0.236776	0.03305	T	0.07126519	0.15763	0.1726065	0.39527	0.07834166	0.17834	0.17184934	0.39397	-5.776	0.45316	T	.	.	0.081	0.08368	B	.;.;.	.;.;.	0.054010	0.04668	1.317	0.75036840081019685	0.10921	0.00187	0.01088	N	AEFBI	0.052410	0.09352	N	-1.33677804670419	0.03264	0.145503	-1.32734372575096	0.04081	0.1917156	0.772892689899756	0.23703	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.0	-0.0543	0.13145	0.003000	0.12984	.	.	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:0.732:0.163:0.105	13.807	0.62729	856	0.34373	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1328.98	38	chr6	29673078	.	C	G	1328.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.92;DP=801;ExcessHet=0.0000;FS=2.577;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=-3.450e-01;SOR=0.965	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1184	20	0	1	0
chr6	29673562	29673562	A	C	exonic	ZFP57	.	nonsynonymous SNV	ZFP57:NM_001366333:exon4:c.T333G:p.C111W	Diabetes mellitus, transient neonatal, 1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.979	D	0.792	P	0.472	N	0.995	D	1.51	L	0.69	T	-0.944	T	0.099	T	0.346	1.201	9.880	-0.072	-0.003	0.049	3.822	0.131	0.0342610859275	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.011	0.64786	D	0.979	0.59044	D	0.792	0.57793	P	0.472001	0.04931	N	1.348420	0.994785	0.42415	D	.	.	.	0.69	0.51714	T	-3.3	0.65858	D	0.35	0.39153	-0.9435	0.42057	T	0.099	0.36882	T	10	0.23685396	0.40775	T	0.034261	0.55552	D	0.131	0.35738	0.444	0.50139	0.505211317368	0.50158	0.16831177280503276	0.16751	1.33123567361	0.83657	0.34201207757	0.16739	T	0.329699	0.69997	T	-0.143826	0.29281	T	-0.444373	0.28320	T	0.341542159864364	0.26685	T	0.786321	0.42483	T	0.27505878	0.50570	0.22166924	0.46986	0.27505878	0.50570	0.22166924	0.46985	-6.94	0.54471	T	.	.	0.798	0.77209	P	.;.;.	.;.;.	2.160012	0.27519	17.49	0.9766844866008082	0.35241	0.19921	0.20846	N	AEFBI	0.610648	0.59939	D	-0.544792175309086	0.20647	1.089978	-0.772872310609986	0.15161	0.7959921	0.743021704827633	0.23242	0.533608	0.22052	0	0.610034	0.51514	0	0.685742	0.62368	0	0.542086	0.14980	0	.	.	3.73	-0.0718	0.13075	-0.531000	0.06259	.	.	0.756000	0.94297	0.000000	0.06391	0.001000	0.17328	0.372000	0.26156	0.4473:0.2034:0.3493:0.0	3.822	0.08353	856	0.34373	.;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1235.98	42	chr6	29673562	.	A	C	1235.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=921;ExcessHet=0.0000;FS=1.764;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=-2.123e+00;SOR=0.971	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1184	20	0	1	0
chr6	29673579	29673579	A	G	exonic	ZFP57	.	nonsynonymous SNV	ZFP57:NM_001366333:exon4:c.T316C:p.Y106H	Diabetes mellitus, transient neonatal, 1	.	0	1504	17	1	0	19	0.00627684	.	.	895744	Monogenic_diabetes|Inborn_genetic_diseases|ZFP57-related_disorder|not_provided|Diabetes_mellitus,_transient_neonatal,_1	MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900|MONDO:MONDO:0011073,MedGen:C1832386,OMIM:601410,Orphanet:99886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.3	T	0.0	B	0.0	B	0.955	N	1.000	N	-0.575	N	0.87	T	-0.978	T	0.013	T	0.035	-2.196	0.005	0.433	-0.146	-0.662	2.620	0.061	0.00282120314739	0.0019	0.00139776	0.0017	0.0014	0.0017	0.0038	0.0002	0.0021	0.0012	0.0004	0.0015977	247	154602	rs146835830	0.0013	0.0013	0.0012	0.0013	0.0118	0.0012	0.0012	0.0095	0.0087	0.0021	0.0022	0.0002	0.0013	9.559e-05	0.0118	0.0013	0.0017	0.0003	0.0022	0.0022	0.0020	0.0024	0.0064	0.0020	0.0019	0.0054	0.0050	0.0022	0	0.0064	0.0003	0.0006	0.0004	0.0136	0.0018	0.0033	0.0002	0.666	0.06204	T	0.662	0.08961	T	0.0	0.02946	B	0.0	0.01387	B	0.954987	0.08262	N	0.972197	1	0.08975	N	.	.	.	0.87	0.46412	T	2.11	0.00435	N	0.138	0.14480	-0.9776	0.35548	T	0.013	0.04985	T	10	0.0046658516	0.00098	T	0.002821	0.05898	T	0.061	0.17616	.	.	0.162503812791	0.15892	0.12665747826524515	0.12591	0.545626151938	0.51587	0.236916989088	0.02519	T	0.027547	0.20149	T	-0.716868	0.00029	T	-0.807123	0.01731	T	0.00261265143888011	0.00027	T	0.00640936	0.00046	T	0.02757644	0.01969	0.044972137	0.05946	0.03679415	0.04594	0.048826136	0.07332	-1.516	0.03367	T	.	.	0.185	0.44135	B	.;.;.	.;.;.	-0.126846	0.03484	0.652	0.314094566136839	0.01768	0.00543	0.02498	N	AEFBI	0.057174	0.10630	N	-1.38297639332757	0.02797	0.1240477	-1.37971277985738	0.03469	0.1618712	0.797342953620268	0.24123	0.533608	0.22052	0	0.610034	0.51514	0	0.685742	0.62368	0	0.542086	0.14980	0	.	.	3.42	0.433	0.15747	-3.472000	0.00511	.	.	-0.103000	0.15852	0.000000	0.06391	0.044000	0.21668	0.027000	0.12703	0.3184:0.0:0.3256:0.3559	2.620	0.04616	856	0.34373	.;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1491.98	42	chr6	29673579	.	A	G	1491.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.375e+00;DP=866;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.21;ReadPosRankSum=-1.020e+00;SOR=0.652	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1184	20	0	1	0
chr6	29673620	29673620	C	T	exonic	ZFP57	.	nonsynonymous SNV	ZFP57:NM_001366333:exon4:c.G275A:p.R92Q	Diabetes mellitus, transient neonatal, 1	.	0	1503	19	0	0	19	0.00628099	.	.	299746	Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_1|not_provided|Monogenic_diabetes	Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0011073,MedGen:C1832386,OMIM:601410,Orphanet:99886|MedGen:C3661900|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.65	T	0.0	B	0.0	B	0.621	N	1.000	N	0.345	N	3.71	T	-0.914	T	0.002	T	0.028	-0.680	1.037	-3.73	-1.298	0.162	3.284	0.010	.	0.0011	0.0139776	0.0068	0.0039	0.0018	0.0106	0	0.0003	0.0047	0.0378	0.0059702	923	154602	rs200541066	0.0032	0.0032	0.0021	0.0043	0.0398	0.0031	0.0031	0.0387	0.0382	0.0049	0.0021	3.832e-05	0.0062	3.825e-05	0.0049	0.0003	0.0061	0.0398	0.0037	0.0037	0.0028	0.0047	0.0599	0.0034	0.0033	0.0542	0.0520	0.0040	0	0.0026	0	0.0060	0	0.0034	0.0004	0.0033	0.0599	0.366	0.11696	T	0.716	0.08777	T	0.0	0.02946	B	0.0	0.01387	B	0.620697	0.10781	N	0.753424	1	0.08975	N	.	.	.	3.5	0.05014	T	0.22	0.07444	N	0.034	0.01068	-0.9143	0.46311	T	0.002	0.00738	T	10	0.0022684336	0.00033	T	.	.	.	0.010	0.01040	.	.	0.0846915920261	0.08053	0.07343996282041032	0.07280	0.484552586258	0.47362	0.288189262152	0.08659	T	0.033722	0.23030	T	-0.777633	0.00011	T	-0.86403	0.00801	T	0.00256213137071298	0.00027	T	0.580242	0.20999	T	0.02677811	0.01780	0.044516083	0.05784	0.03501257	0.04041	0.045016915	0.05964	-3.44	0.15683	T	.	.	0.109	0.26514	B	.;.;.	.;.;.	0.104313	0.05051	1.595	0.67320172402372191	0.08319	0.02443	0.06880	N	AEFBI	0.116802	0.22908	N	-2.34229440237499	0.00036	0.001566646	-2.35604353455089	0.00050	0.002183283	0.978084408889132	0.29885	0.533608	0.22052	0	0.610034	0.51514	0	0.685742	0.62368	0	0.542086	0.14980	0	.	.	3.36	-3.73	0.04112	0.248000	0.17971	.	.	-1.957000	0.00479	0.000000	0.06391	0.007000	0.19602	0.020000	0.11549	0.0874:0.3646:0.1792:0.3687	3.284	0.06518	856	0.34373	.;.;Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.04762	2160.11	42	chr6	29673620	.	C	T	2160.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.174;DP=933;ExcessHet=0.1072;FS=6.205;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=0.670;SOR=1.103	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1184	19	0	2	0
chr6	29673636	29673636	T	A	exonic	ZFP57	.	nonsynonymous SNV	ZFP57:NM_001366333:exon4:c.A259T:p.T87S	Diabetes mellitus, transient neonatal, 1	.	0	1504	17	1	0	19	0.00627684	.	.	307058	Inborn_genetic_diseases|ZFP57-related_disorder|not_provided|Monogenic_diabetes|Diabetes_mellitus,_transient_neonatal,_1	MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MONDO:MONDO:0011073,MedGen:C1832386,OMIM:601410,Orphanet:99886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.42	T	0.0	B	0.0	B	0.062	N	1.000	N	-0.345	N	3.76	T	-0.930	T	0.002	T	0.013	-0.915	0.407	0.312	-0.212	-1.115	3.622	0.007	0.00204713278088	0.0019	0.00139776	0.0017	0.0014	0.0017	0.0038	0.0002	0.0021	0.0012	0.0004	0.0015977	247	154602	rs201703858	0.0013	0.0013	0.0012	0.0013	0.0116	0.0012	0.0012	0.0094	0.0086	0.0021	0.0022	0.0002	0.0013	9.56e-05	0.0116	0.0013	0.0017	0.0003	0.0022	0.0022	0.0020	0.0024	0.0064	0.0020	0.0019	0.0054	0.0050	0.0022	0	0.0064	0.0003	0.0006	0.0004	0.0136	0.0019	0.0043	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.062137	0.22119	N	0.234003	1	0.08975	N	.	.	.	3.5	0.05014	T	0.35	0.03955	N	0.022	0.00372	-0.9298	0.44168	T	0.002	0.00676	T	10	0.0040598214	0.00079	T	0.002047	0.03748	T	0.007	0.00512	0.279	0.23323	0.128392430309	0.12331	0.030834241280587222	0.03032	0.374455605412	0.38907	0.326435446739	0.14395	T	.	.	.	-0.784202	0.00010	T	-0.903844	0.00476	T	0.000298600996568799	0.00002	T	0.0920908	0.00681	T	.	.	.	.	.	.	.	.	-2.755	0.07874	T	.	.	0.103	0.18289	B	.;.	.;.	-0.952589	0.00841	0.029	0.64164633450801511	0.07419	0.00226	0.01270	N	AEFBI	0.038722	0.05520	N	-1.42609844258968	0.02411	0.1064481	-1.43819827313715	0.02879	0.1332465	0.742830534586455	0.23239	0.516011	0.20929	0	0.610034	0.51514	0	0.615948	0.41167	0	0.542086	0.14980	0	.	.	2.98	0.312	0.15082	-2.147000	0.01379	.	.	-0.043000	0.17390	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3996:0.204:0.0:0.3963	3.622	0.07640	856	0.34373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1390.98	42	chr6	29673636	.	T	A	1390.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.00;DP=818;ExcessHet=0.0000;FS=3.505;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=1.73;SOR=0.902	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1184	20	0	1	0
chr6	29724188	29724188	A	G	exonic	HLA-F	.	nonsynonymous SNV	HLA-F:NM_001098478:exon3:c.A350G:p.Q117R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.998	D	0.004	U	0.772	N	5.055	H	8.3	T	-1.061	T	0.023	T	0.59	0.388	6.105	1.63	0.724	0.934	5.212	0.102	0.000545157378686	0.0001	.	8.661e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs28628033	6.846e-07	6.84e-07	1.362e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	6.569e-06	6.567e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.001	0.92824	D	0.896	0.49324	P	0.814	0.66279	P	0.003688	0.34611	U	0.000000	1	0.29426	N	3.99	0.96693	H	8.3	0.00261	T	-3.64	0.70314	D	0.445	0.49874	-1.0611	0.11483	T	0.023	0.09741	T	10	0.3133424	0.48786	T	5.45E-4	0.00196	T	0.102	0.29158	.	.	0.273938319068	0.27005	0.7907556312582983	0.79027	1.37107048066	0.84535	0.30844861269	0.11672	T	0.31411	0.68582	T	-0.0488847	0.44617	T	-0.307996	0.43873	T	0.963096141815186	0.66558	D	0.570643	0.20320	T	0.850253	0.87354	0.80004877	0.88273	0.850253	0.87355	0.80004877	0.88273	-9.968	0.73804	D	.	.	0.501	0.67259	A	.;.;.;.	.;.;.;.	3.486053	0.48708	22.7	0.61852636814207151	0.06813	0.03185	0.08170	N	AEFDGBCI	0.085979	0.17432	N	0.0645039009909192	0.44813	2.748512	-0.321046226925983	0.27420	1.521362	0.999999888968716	0.74766	0.72623	0.87236	0	0.504199	0.08210	0	0.594344	0.31042	0	0.618803	0.45993	0	.	.	1.63	1.63	0.22882	1.141000	0.31140	.	.	0.553000	0.28181	0.003000	0.16062	0.000000	0.08366	0.046000	0.14843	1.0:0.0:0.0:0.0	5.212	0.14642	856	0.34373	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	936.98	38	chr6	29724188	.	A	G	936.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.210e-01;DP=823;ExcessHet=0.0000;FS=3.892;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.01;ReadPosRankSum=-7.650e-01;SOR=1.153	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr6	29942795	29942795	C	T	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon2:c.C112T:p.R38W	.	.	1	1321	200	0	0	200	0.070373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.98	D	0.690	U	0.991	N	3.54	H	5.54	T	-0.994	T	0.009	T	0.742	2.152	13.15	1.87	0.363	0.209	5.323	0.141	.	.	.	0.0603	0.0995	0.1022	0.0272	0.0692	0.0516	0.0599	0.0590	0.0488804	7557	154602	rs45569434	6.38e-05	0.0006	3.982e-05	8.774e-05	0.0003	5.181e-05	4.787e-05	0.0001	0.0001	0.0001	0.0003	0.0002	0.0001	0.0001	0	5.282e-05	5.858e-05	1.255e-05	1.763e-05	0.0004	1.698e-05	1.832e-05	3.158e-05	2.93e-06	1.1e-06	.	.	3.158e-05	0	0	0	0	0	0	1.921e-05	0	0	0.0	0.91255	D	0.027	0.55341	D	1.0	0.90584	D	0.98	0.74843	D	0.690295	0.10182	U	0.758419	0.991328	0.24050	N	.	.	.	5.54	0.00885	T	-5.95	0.90140	D	0.086	0.09631	-0.9942	0.31512	T	0.009	0.03011	T	10	0.009814292	0.00220	T	.	.	.	0.141	0.37795	.	.	.	.	0.2815732018754056	0.28070	0.458621484478	0.45471	0.351919740438	0.18205	T	0.028248	0.20504	T	0.0221942	0.54678	T	-0.205896	0.54087	T	0.132723840102629	0.15631	T	0.657134	0.26688	T	0.38850322	0.59925	0.5650758	0.74827	0.38850322	0.59926	0.5650758	0.74828	-10.028	0.74079	D	.	.	0.146	0.39271	B	.;.;.;.;.	.;.;.;.;.	3.559205	0.50069	22.9	0.99688396903793897	0.79775	0.02454	0.06901	N	AEFDGBHCI	0.351151	0.44436	N	0.195067772507188	0.50963	3.281393	-0.0380896100270192	0.38011	2.23339	0.999999980882174	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	3.72	1.87	0.24559	0.353000	0.19868	.	.	0.397000	0.20528	0.010000	0.18352	0.000000	0.08366	0.029000	0.12982	0.0:0.6744:0.2073:0.1183	5.323	0.15197	862	0.33134	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.119	926.44	142	chr6	29942795	.	C	T	926.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-8.950e-01;DP=2773;ExcessHet=1.1607;FS=4.085;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=57.24;MQRankSum=-6.125e+00;QD=1.24;ReadPosRankSum=2.87;SOR=0.953	GT:AD:DP:GQ:PL	0/0:95,0:95:99:0,120,1800	16	0	5	0
chr6	29942883	29942883	A	G	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon2:c.A200G:p.Q67R	.	.	0	1438	4	0	80	84	0.00138889	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.968	D	0.986	D	.	.	1.000	N	0.675	N	5.81	T	-0.810	T	0.002	T	0.271	0.471	6.554	-0.813	0.031	-1.236	5.061	0.045	.	0.0204	0.0227636	0.0137	0.0536	0.0150	0.0007	0.0011	0.0104	0.0111	0.0133	0.0124837	1930	154602	rs41559117	0.0037	0.0078	0.0038	0.0037	0.0216	0.0036	0.0036	0.0202	0.0197	0.0216	0.0047	0.0108	8.565e-05	0.0001	0.0120	0.0032	0.0052	0.0039	0.0017	0.0090	0.0018	0.0016	0.0045	0.0015	0.0014	0.0039	0.0037	0.0045	0	0.0018	0.0031	0	0	0.0043	0.0004	0.0007	0	0.02	0.51853	D	0.041	0.57104	D	0.0	0.56581	B	0.006	0.76916	B	.	.	.	.	1	0.08975	N	.	.	.	5.81	0.00662	T	-1.14	0.29323	N	0.055	0.02861	-0.8104	0.54526	T	0.002	0.00615	T	9	0.00527516	0.00115	T	.	.	.	0.045	0.12272	.	.	.	.	0.07107235017823713	0.07044	0.08978525868	0.10134	0.482441782951	0.36394	T	0.031741	0.22178	T	-0.607241	0.00132	T	-0.602541	0.12598	T	0.00163650000544905	0.00017	T	0.0251975	0.00152	T	0.18879686	0.40394	0.19114956	0.42557	0.18879686	0.40394	0.19114956	0.42556	-7.366	0.56664	T	.	.	0.087	0.12985	B	.;.;.;.;.	.;.;.;.;.	0.832616	0.12043	8.596	0.59490845781891166	0.06237	0.00644	0.02812	N	AEFDGBHCI	0.252519	0.37219	N	-1.21743244991224	0.04747	0.2148947	-1.29180973749741	0.04541	0.2144058	0.999999969870594	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.56214	0.19341	0	.	.	3.72	-0.813	0.10303	-0.362000	0.07655	.	.	-2.223000	0.00347	0.004000	0.16614	.	.	0.011000	0.09372	0.5529:0.3361:0.0:0.1109	5.061	0.13892	862	0.33134	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1862.98	113	chr6	29942883	.	A	G	1862.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.578e+00;DP=2885;ExcessHet=0.0000;FS=2.978;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.62;MQRankSum=1.55;QD=12.94;ReadPosRankSum=-8.020e-01;SOR=0.477	GT:AD:DP:GQ:PL	0/0:95,0:95:99:0,120,1800	20	0	1	0
chr6	29942948	29942948	C	0	exonic	HLA-A	.	.	.	.	.	4	962	413	52	91	608	0.211798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	11446.09	83	chr6	29942948	.	C	G,*	11446.09	.	AC=7,5;AF=0.167,0.119;AN=42;BaseQRankSum=2.18;DP=2279;ExcessHet=3.2961;FS=4.407;InbreedingCoeff=-0.1632;MLEAC=7,5;MLEAF=0.167,0.119;MQ=58.86;MQRankSum=-2.836e+00;QD=8.92;ReadPosRankSum=-1.240e+00;SOR=1.060	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,78,0:84:17:0|1:29942939_C_G:3237,0,17,3255,252,3507:29942939	10	1	5	0
chr6	29942984	29942984	G	0	exonic	HLA-A	.	.	.	.	.	21	460	694	307	40	1348	0.587074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	27213.23	96	chr6	29942984	.	G	A,*	27213.23	.	AC=17,4;AF=0.447,0.105;AN=38;BaseQRankSum=2.07;DP=1862;ExcessHet=2.0051;FS=0.540;InbreedingCoeff=-0.1455;MLEAC=18,4;MLEAF=0.474,0.105;MQ=58.85;MQRankSum=-2.139e+00;QD=18.59;ReadPosRankSum=-7.460e-01;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,65,0:65:99:1|1:29942982_T_A:2925,196,0,2925,196,2925:29942982	3	4	8	2
chr6	29942985	29942985	A	0	exonic	HLA-A	.	.	.	.	.	8	1279	183	12	40	247	0.0748644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	3424.32	96	chr6	29942985	.	A	G,*	3424.32	.	AC=3,3;AF=0.094,0.094;AN=32;BaseQRankSum=1.35;DP=1731;ExcessHet=0.1217;FS=2.663;InbreedingCoeff=0.0413;MLEAC=4,4;MLEAF=0.125,0.125;MQ=57.98;MQRankSum=-3.446e+00;QD=8.10;ReadPosRankSum=-2.600e-01;SOR=0.917	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:63,0,0:63:99:.:.:0,120,1800,120,1800,1800	11	1	1	5
chr6	29943300	29943300	G	C	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon3:c.G376C:p.D126H	.	.	0	1474	41	7	0	55	0.018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.127	U	0.671	N	3.785	H	5.38	T	-1.087	T	0.018	T	0.598	2.360	13.85	2.87	0.884	2.289	10.996	0.166	.	0.0023	0.00698882	0.0051	0.0010	0.0034	0.0081	0.0047	0.0043	0.0090	0.0095	0.0039391	609	154602	rs199474490	0.0044	0.0043	0.0039	0.0048	0.0188	0.0043	0.0042	0.0146	0.0131	0.0015	0.0042	0.0301	0.0069	0.0030	0.0188	0.0028	0.0066	0.0141	0.0009	0.0036	0.0008	0.0009	0.0046	0.0007	0.0006	0.0020	0.0014	0.0003	0	0.0009	0.0144	0.0027	0.0008	0	0.0004	0.0014	0.0046	0.003	0.68238	D	0.018	0.59732	D	0.022	0.90584	B	0.529	0.97372	P	0.126621	0.02772	U	13.091800	0.671307	0.30362	N	.	.	.	5.38	0.01033	T	-4.99	0.83092	D	0.284	0.32701	-1.0870	0.06048	T	0.018	0.07282	T	10	0.008825779	0.00200	T	.	.	.	0.166	0.42578	.	.	0.648470103757	0.64555	0.24578017633699462	0.24492	0.273103400774	0.29815	0.344277799129	0.17075	T	0.036046	0.23955	T	-0.392348	0.02598	T	-0.335542	0.40848	T	0.0927495050700933	0.11540	T	0.146985	0.01214	T	0.6519732	0.75469	0.672446	0.80775	0.6519732	0.75471	0.672446	0.80776	-9.897	0.73292	D	.	.	0.260	0.51985	B	.;.;.;.;.	.;.;.;.;.	2.785315	0.36596	20.3	0.96876741612568884	0.31442	0.55369	0.29847	D	AEFDBHCIJ	0.695273	0.65400	D	0.145546896504087	0.48600	3.070395	0.0174266624164014	0.40524	2.419858	0.999999991545664	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	3.78	2.87	0.32523	2.151000	0.41888	.	.	-0.356000	0.05535	0.599000	0.27739	0.000000	0.08366	0.007000	0.07825	0.0:0.1918:0.8082:0.0	10.996	0.46792	862	0.33134	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2421.98	136	chr6	29943300	.	G	C	2421.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.93;DP=2588;ExcessHet=0.0000;FS=0.680;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.38;ReadPosRankSum=1.17;SOR=0.573	GT:AD:DP:GQ:PL	0/0:153,0:153:99:0,120,1800	20	0	1	0
chr6	29943466	29943466	G	C	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon3:c.G542C:p.R181T	.	.	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.995	D	0.083	U	1.000	N	4.355	H	5.5	T	-1.074	T	0.011	T	0.65	1.913	12.36	-0.246	0.043	0.617	5.655	0.116	0.00231275347764	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs41551921	0.0015	0.0018	0.0014	0.0016	0.0263	0.0014	0.0014	0.0241	0.0233	0.0040	0.0021	0.0049	0.0263	0.0004	0.0020	0.0005	0.0021	0.0034	0.0031	0.0058	0.0033	0.0029	0.0111	0.0027	0.0026	0.0060	0.0050	0.0065	0	0.0034	0.0067	0.0111	0.0002	0	0.0014	0	0.0082	0.0	0.91255	D	0.017	0.60337	D	0.368	0.70673	B	0.553	0.83170	P	0.083090	0.20772	U	0.195532	1	0.08975	N	.	.	.	5.5	0.00921	T	-4.95	0.83899	D	0.2	0.22098	-1.0740	0.08556	T	0.011	0.03996	T	10	0.062769085	0.08077	T	0.002313	0.04452	T	0.116	0.32463	.	.	0.521173705876	0.51762	0.4237482673628714	0.42291	0.322994502103	0.34468	0.362238705158	0.19712	T	0.043031	0.26373	T	-0.0288615	0.47583	T	-0.279234	0.46883	T	0.722275290186976	0.41814	D	0.652235	0.26282	T	0.5382447	0.69298	0.7803431	0.87051	0.5382447	0.69299	0.7803431	0.87051	-9.925	0.73461	D	.	.	0.186	0.42273	B	.;.;.;.;.	.;.;.;.;.	2.707049	0.35375	19.88	0.77730205563054477	0.11998	0.07489	0.13505	N	AEFDBHCI	0.507271	0.53764	D	-0.181667386017008	0.33899	1.928515	-0.509230914232592	0.21901	1.187048	0.999998772710174	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.657601	0.63696	0	.	.	3.78	-0.246	0.12380	0.575000	0.23431	.	.	-1.064000	0.01611	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2536:0.1541:0.5923:0.0	5.655	0.16914	862	0.33134	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	82.98	168	chr6	29943466	.	G	C	82.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.940e-01;DP=3450;ExcessHet=0.0000;FS=13.104;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.36;MQRankSum=-7.703e+00;QD=0.47;ReadPosRankSum=-1.931e+00;SOR=1.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:184,0:184:99:.:.:0,120,1800	20	0	1	0
chr6	29943490	29943490	T	A	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon3:c.T566A:p.V189E	.	.	1	1477	44	0	0	44	0.0146765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.851	U	0.990	N	5.51	H	9.25	T	-0.820	T	0.002	T	0.727	3.192	16.68	3.78	1.710	2.837	10.816	0.159	0.00142353322405	.	.	2.606e-05	0	0	0	0.0002	1.6e-05	0.0012	0	3.84e-05	1	26028	rs61760919	0.0007	0.0027	0.0007	0.0007	0.0009	0.0007	0.0006	0.0007	0.0006	0.0002	0.0005	0.0017	8.884e-05	0.0014	0.0009	0.0007	0.0009	0.0004	0.0016	0.0041	0.0015	0.0017	0.0024	0.0014	0.0013	0.0020	0.0018	0.0001	0.0025	0.0016	0.0035	0	0.0014	0	0.0024	0.0063	0.0023	0.0	0.91255	D	0.0	0.92824	D	0.999	0.90584	D	0.992	0.97372	D	0.851294	0.08960	U	0.882556	0.990206	0.24201	N	.	.	.	9.25	0.00012	T	-4.87	0.83092	D	0.621	0.65844	-0.8199	0.53940	T	0.002	0.00556	T	10	0.348536	0.51765	T	0.001424	0.02113	T	0.159	0.41286	.	.	0.743235531803	0.74093	0.4215216425715336	0.42068	0.57927069771	0.53807	0.427145779133	0.28818	T	0.034601	0.23385	T	0.0421792	0.57330	T	-0.177189	0.56782	T	0.851314777930325	0.50280	D	0.0760924	0.00560	T	0.9365268	0.94894	0.9554539	0.98719	0.9365268	0.94895	0.9554539	0.98720	-9.597	0.71461	D	.	.	0.210	0.46654	B	.;.;.;.;.	.;.;.;.;.	3.771205	0.54171	23.5	0.9364945392310049	0.23532	0.49657	0.28483	N	AEFDBHCI	0.715776	0.66783	D	0.404381041794387	0.61661	4.370396	0.0538978186227101	0.42259	2.55306	0.999999999840471	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.657601	0.63696	0	.	.	3.78	3.78	0.42629	2.380000	0.43982	.	.	-0.333000	0.05756	0.027000	0.20232	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.0:1.0	10.816	0.45779	862	0.33134	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	315.98	109	chr6	29943490	.	T	A	315.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.21;DP=2945;ExcessHet=0.0000;FS=0.915;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.46;MQRankSum=-9.710e+00;QD=1.89;ReadPosRankSum=-1.611e+00;SOR=0.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:173,0:173:99:.:.:0,120,1800	20	0	1	0
chr6	29943542	29943542	G	0	exonic	HLA-A	.	.	.	.	.	2	437	1008	1	74	1084	0.536093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	6146.8	107	chr6	29943542	.	G	T,*	6146.8	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=-1.114e+00;DP=2095;ExcessHet=14.4320;FS=2.349;InbreedingCoeff=-0.5273;MLEAC=13,1;MLEAF=0.325,0.025;MQ=58.53;MQRankSum=-3.892e+00;QD=4.14;ReadPosRankSum=1.73;SOR=0.488	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:58,0,0:58:99:.:.:0,120,1800,120,1800,1800	6	0	13	1
chr6	29944131	29944131	A	G	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon4:c.A629G:p.K210R	.	.	2	1498	22	0	0	22	0.0072896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.526	P	0.418	B	0.888	N	1.000	N	2.1	M	2.54	T	-0.942	T	0.021	T	0.439	0.502	6.722	-0.57	0.135	-0.147	4.153	0.061	0.00132195622806	.	0.00359425	0.0001	0.0005	0.0002	0	0	0.0001	0	0	0.0014984	39	26028	rs41557315	3.617e-05	0.0003	3.322e-05	3.916e-05	0.0002	2.809e-05	2.543e-05	3.157e-05	1.853e-05	9.213e-05	9.255e-05	0.0003	0	0	0.0002	2.731e-05	3.393e-05	4.683e-05	0.0002	0.0015	0.0003	0.0002	0.0003	0.0002	0.0001	0.0001	0.0001	0.0003	0	0.0002	0.0019	0	0	0	0.0002	0	0	0.009	0.57480	D	0.018	0.60337	D	0.0	0.37632	B	0.008	0.45020	B	0.887501	0.07274	N	1.089720	1	0.08975	N	.	.	.	2.54	0.13916	T	-1.92	0.47514	N	0.119	0.11912	-0.9417	0.42346	T	0.021	0.08686	T	10	0.006624311	0.00150	T	0.001322	0.01860	T	0.061	0.17616	.	.	0.244539031024	0.24083	0.033444072647935544	0.03292	0.673727972877	0.59609	0.276505172253	0.07011	T	0.070272	0.33919	T	-0.163573	0.26211	T	-0.472738	0.25221	T	0.0168572552517478	0.00438	T	0.40306	0.10319	T	0.32628953	0.55165	0.14389357	0.34181	0.32628953	0.55165	0.14389357	0.34180	-9.053	0.68038	D	.	.	0.087	0.14201	B	.;.;.;.;.	.;.;.;.;.	2.100822	0.26729	17.22	0.59713539481296896	0.06289	0.05196	0.11019	N	AEFDBHCI	0.252938	0.37253	N	-0.818626077946385	0.12835	0.6282218	-0.958777827068927	0.10720	0.5417307	0.999998817973529	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.645665	0.59343	0	.	.	3.69	-0.57	0.11164	-0.012000	0.12637	.	.	0.534000	0.24903	0.000000	0.06391	0.000000	0.08366	0.034000	0.13613	0.4426:0.4323:0.1251:0.0	4.153	0.09711	862	0.33134	Immunoglobulin-like domain;Immunoglobulin-like domain;Immunoglobulin-like domain;Immunoglobulin-like domain;Immunoglobulin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	4400.11	202	chr6	29944131	.	A	G	4400.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.980e-01;DP=5797;ExcessHet=0.1072;FS=0.601;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=48.28;MQRankSum=-3.257e+00;QD=7.73;ReadPosRankSum=1.17;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:236,0:236:99:.:.:0,120,1800	19	0	2	0
chr6	29944308	29944308	C	T	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon4:c.C806T:p.A269V	.	.	3	1389	128	2	0	132	0.0453608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.996	D	0.021	N	0.944	N	1.505	L	4.18	T	-1.049	T	0.013	T	0.464	1.395	10.60	3.69	2.070	-0.097	11.152	0.081	.	.	.	0.0410	0.0786	0.0841	0.0011	0.0347	0.0310	0.0497	0.0527	0.0001921	5	26028	rs148794540	0.0013	0.0063	0.0011	0.0015	0.0041	0.0012	0.0012	0.0037	0.0036	0.0021	0.0033	0.0010	5.875e-05	0.0023	0.0004	0.0009	0.0015	0.0041	0.0010	0.0057	0.0012	0.0008	0.0021	0.0009	0.0008	0.0016	0.0015	0.0021	0	0.0012	0.0016	0.0003	0.0004	0	0.0006	0.0023	0.0003	0.028	0.46129	D	0.041	0.50809	D	0.029	0.90584	B	0.02	0.84481	B	0.021307	0.26859	N	0.171004	0.944011	0.26704	N	.	.	.	4.18	0.02743	T	-2.33	0.54059	N	0.085	0.09631	-1.0492	0.14621	T	0.013	0.04890	T	10	0.0030664504	0.00051	T	.	.	.	0.081	0.23632	.	.	.	.	0.09802837896223301	0.09733	0.832682807749	0.67689	0.369983077049	0.20830	T	0.026582	0.19643	T	-0.179179	0.23858	T	-0.495155	0.22852	T	0.0270032397942615	0.01544	T	0.347765	0.07665	T	0.39151996	0.60140	0.24605103	0.50105	0.39151996	0.60140	0.24605103	0.50104	-8.43	0.63965	D	.	.	0.158	0.35034	B	.;.;.;.;.	.;.;.;.;.	2.278150	0.29126	18.02	0.89634627430455549	0.18967	0.11996	0.16994	N	AEFGBCI	0.290915	0.40218	N	-0.149922629522064	0.35236	2.02149	-0.167087891439065	0.32757	1.866744	0.999999942386165	0.74766	0.67177	0.52595	0	0.685571	0.66316	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.69	3.69	0.41483	-0.929000	0.04084	.	.	0.429000	0.20894	0.000000	0.06391	0.000000	0.08366	0.232000	0.22788	0.0:1.0:0.0:0.0	11.152	0.47687	862	0.33134	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	rs148794540	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	3025.68	137	chr6	29944308	.	C	T	3025.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.660;DP=3139;ExcessHet=0.3300;FS=21.319;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=42.63;MQRankSum=-3.310e-01;QD=6.68;ReadPosRankSum=0.494;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:131,0:131:99:.:.:0,120,1800	18	0	3	0
chr6	29944565	29944565	G	A	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon5:c.G961A:p.V321M	.	.	3	1323	186	10	0	206	0.07223	.	.	1781407	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	0	D	0.913	P	0.691	P	0.212	U	1.000	N	3.09	M	5.65	T	-1.057	T	0.003	T	0.284	0.247	5.337	-6.27	-0.955	-0.236	2.239	0.070	.	.	0.0255591	0.0210	0.0424	0.0124	0.0028	0.0259	0.0233	0.0282	0.0127	0.0014359	222	154602	rs1059896	0.0002	0.0030	0.0001	0.0002	0.0006	0.0001	0.0001	0.0004	0.0004	0.0005	0.0005	5.967e-05	4.102e-05	0.0001	0.0002	9.919e-05	0.0001	0.0006	0.0002	0.0077	0.0002	0.0003	0.0003	0.0002	0.0001	0.0002	0.0001	0.0003	0	0.0001	0	0	0.0003	0	0.0003	0	0.0003	0.031	0.45039	D	0.03	0.54159	D	0.003	0.50474	B	0.017	0.53831	B	0.211648	0.16350	U	0.430133	1	0.08975	N	.	.	.	5.65	0.00800	T	-1.02	0.28084	N	0.138	0.13626	-1.0572	0.12465	T	0.003	0.01026	T	10	0.002677232	0.00041	T	.	.	.	0.070	0.20419	.	.	.	.	0.12531310856783362	0.12457	0.836547363532	0.67840	0.272338211536	0.06448	T	0.055992	0.30162	T	-0.581	0.00190	T	-0.55227	0.17107	T	0.0345302149775132	0.02728	T	0.848015	0.52922	T	0.024210302	0.01230	0.04359398	0.05459	0.024210302	0.01230	0.04359398	0.05459	-10.499	0.76842	D	.	.	0.123	0.27821	B	.;.;.	.;.;.	1.364435	0.17740	13.34	0.51719110658237677	0.04614	0.02367	0.06739	N	AEFGBHCI	0.256454	0.37537	N	-0.906902056130523	0.10679	0.5115168	-1.16424901818202	0.06515	0.3138758	0.999999991975517	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	3.33	-6.27	0.01850	-0.868000	0.04345	.	.	-1.242000	0.01313	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2058:0.4163:0.2375:0.1404	2.239	0.03769	862	0.33134	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	9241.66	230	chr6	29944565	.	G	A	9241.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.048e+00;DP=4119;ExcessHet=0.0000;FS=2.490;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=59.94;MQRankSum=-1.790e-01;QD=22.71;ReadPosRankSum=-2.330e-01;SOR=0.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:191,0:191:99:.:.:0,120,1800	19	1	1	0
chr6	30071298	30071298	T	C	exonic	RNF39	.	nonsynonymous SNV	RNF39:NM_025236:exon4:c.A1076G:p.E359G,	.	.	425	1056	36	5	0	46	0.021316	.	.	2822805	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0	B	0.006	B	0.461	N	1.000	N	0.345	N	-0.52	T	-1.029	T	0.073	T	0.065	-0.487	1.760	3.13	1.030	0.501	9.058	0.069	.	0.0013	0.00698882	0.0043	0.0010	0.0025	0.0058	0.0043	0.0037	0.0076	0.0124	0.0024967	386	154602	rs200705517	0.0026	0.0025	0.0023	0.0028	0.0145	0.0025	0.0024	0.0119	0.0109	0.0008	0.0022	0.0202	0.0034	0.0036	0.0145	0.0015	0.0044	0.0109	0.0027	0.0027	0.0026	0.0028	0.0095	0.0025	0.0024	0.0074	0.0066	0.0006	0	0.0025	0.0225	0.0095	0.0043	0.0238	0.0018	0.0033	0.0093	0.348	0.12386	T	0.372	0.16376	T	0.0	0.02946	B	0.006	0.12133	B	0.461370	0.12387	N	0.660669	1	0.08975	N	0.1	0.08449	N	-0.52	0.70717	T	-0.77	0.21429	N	0.032	0.00825	-1.0294	0.20649	T	0.073	0.29610	T	9	0.0051576495	0.00112	T	.	.	.	0.069	0.20116	.	.	0.32980341726	0.32591	0.4892985979737355	0.48849	1.33213483434	0.83669	0.746568977833	0.73940	T	5.78E-4	0.00232	T	-0.576066	0.00204	T	-0.594988	0.13237	T	0.0012265302896953	0.00012	T	.	.	.	0.053899508	0.10267	0.11954944	0.28855	0.053899508	0.10267	0.11954944	0.28854	-2.098	0.03575	T	.	.	0.049	0.00112	B	.	.	1.341678	0.17480	13.19	0.79342732161236129	0.12699	0.01186	0.04246	N	AEFBHCI	0.023291	0.01277	N	-0.956425136926051	0.09549	0.4524285	-0.941654056973241	0.11117	0.5644133	0.999988199632191	0.51787	0.455138	0.09556	0	0.550933	0.16991	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	4.01	3.13	0.35090	-0.908000	0.04171	.	.	-0.374000	0.05429	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.0:0.8866:0.0:0.1134	9.058	0.35578	862	0.33134	Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	979.98	54	chr6	30071298	.	T	C	979.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.516e+00;DP=893;ExcessHet=0.0000;FS=2.017;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.00;ReadPosRankSum=-5.900e-02;SOR=1.035	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1215	20	0	1	0
chr6	30108100	30108100	G	C	exonic	TRIM31	.	nonsynonymous SNV	TRIM31:NM_007028:exon6:c.C836G:p.A279G,	.	.	428	1086	8	0	0	8	0.00366972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.774	P	0.497	P	0.378	U	1.000	N	0.55	N	-0.26	T	-1.031	T	0.089	T	0.13	2.149	13.14	0.061	-0.021	0.023	5.236	0.092	0.0103216636934	0.0013	0.000599042	0.0007	0.0004	0.0010	0	0	0.0009	0	0.0005	0.0005757	89	154602	rs143752017	0.0005	0.0005	0.0005	0.0005	0.0038	0.0005	0.0005	0.0025	0.0021	6.169e-05	0.0013	0.0023	5.228e-05	3.929e-05	0.0038	0.0005	0.0007	0.0007	0.0007	0.0007	0.0007	0.0008	0.0021	0.0006	0.0006	0.0015	0.0013	0.0002	0.0088	0.0021	0.0023	0	9.48e-05	0	0.0007	0.0005	0.0002	0.004	0.65419	D	0.019	0.59159	D	0.774	0.44062	P	0.497	0.47562	P	0.377741	0.13434	U	0.555584	0.999576	0.20950	N	1.24	0.30952	L	-0.26	0.67187	T	-2.08	0.47514	N	0.094	0.07398	-1.0311	0.20099	T	0.089	0.34188	T	10	0.0051229596	0.00111	T	0.010322	0.26719	T	0.092	0.26621	.	.	0.592368907089	0.58914	0.06743054503027741	0.06681	0.267289047537	0.29270	0.34406208992	0.17044	T	0.004222	0.03630	T	-0.45042	0.01123	T	-0.470215	0.25493	T	0.0189243410639565	0.00602	T	.	.	.	0.026830329	0.01791	0.06225984	0.12152	0.026830329	0.01791	0.06225984	0.12152	-5.104	0.37950	T	.	.	0.232	0.46528	B	.	.	2.345110	0.30055	18.32	0.99251556935886676	0.56891	0.05102	0.10903	N	AEFBI	0.065437	0.12763	N	-0.404537125218123	0.25311	1.372979	-0.493944187148452	0.22319	1.211727	0.272097181707328	0.18902	0.516011	0.20929	0	0.610034	0.51514	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	2.9	0.061	0.13653	0.110000	0.15273	.	.	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.838000	0.39538	0.4244:0.0:0.5756:0.0	5.236	0.14764	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	375.99	35	chr6	30108100	.	G	C	375.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.143e+00;DP=872;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0253;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.00;ReadPosRankSum=-4.090e-01;SOR=0.668	GT:AD:DP:GQ:PL	0/1:27,20:47:99:390,0,726	20	0	1	0
chr6	30157034	30157034	C	T	exonic	TRIM10	.	nonsynonymous SNV	TRIM10:NM_006778:exon5:c.G800A:p.R267Q	.	.	434	1075	13	0	0	13	0.00601017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	T	0.948	P	0.322	B	0.000	D	0.550	N	1.46	L	3.82	T	-0.967	T	0.004	T	0.382	3.220	16.79	4.68	2.809	0.201	11.289	0.110	.	0.0090	0.00359425	0.0077	0.0024	0.0042	0	0.0104	0.0112	0.0069	0.0025	0.0069792	1079	154602	rs144731721	0.0081	0.0081	0.0083	0.0079	0.0092	0.0080	0.0079	0.0090	0.0090	0.0014	0.0044	0.0057	0.0003	0.0107	0.0068	0.0092	0.0071	0.0024	0.0073	0.0073	0.0069	0.0077	0.0100	0.0069	0.0068	0.0094	0.0091	0.0020	0.0910	0.0065	0.0061	0	0.0106	0	0.0100	0.0066	0.0029	0.033	0.44358	D	0.625	0.07316	T	0.913	0.53620	P	0.129	0.41795	B	0.000061	0.52346	D	0.000000	0.549516	0.31346	N	1.455	0.36767	L	3.82	0.03728	T	0.97	0.02297	N	0.21	0.23380	-0.9671	0.37794	T	0.004	0.01365	T	10	0.003029883	0.00050	T	.	.	.	0.110	0.31079	.	.	0.266385636622	0.26244	0.16186742443344518	0.16107	0.420563270104	0.42581	0.469495266676	0.34610	T	2.96E-4	0.00073	T	-0.517685	0.00454	T	-0.507	0.21623	T	0.0197773522315318	0.00679	T	.	.	.	0.19610429	0.41425	0.20326965	0.44395	0.19610429	0.41425	0.20326965	0.44394	-2.835	0.08510	T	.	.	0.080	0.13503	B	.;.	.;.	2.963804	0.39475	21.0	0.99862671745657383	0.94093	0.31410	0.24330	N	AEFDBI	0.174159	0.30128	N	0.0202556560660512	0.42777	2.583852	0.0953531941251833	0.44313	2.715592	0.999999449537794	0.74766	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.631631	0.49550	0	.	.	5.61	4.68	0.58319	0.341000	0.19652	.	.	0.585000	0.30472	0.000000	0.06391	1.000000	0.68203	0.979000	0.57723	0.1816:0.8183:0.0:0.0	11.289	0.48477	840	0.37365	.;.	HLA-K|ZFP57|HLA-K|ZFP57|ZFP57|HLA-H|HCG4P7|HCG4P7|HLA-K|HLA-K|TRIM31-AS1|ZFP57|HLA-H|HCG4P7|HLA-K|ZFP57	Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood	HLA-H|HLA-H|HLA-H|HLA-A|HLA-H|HLA-A	Cells_Cultured_fibroblasts|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Nerve_Tibial|Nerve_Tibial	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1972.11	33	chr6	30157034	.	C	T	1972.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.17;DP=842;ExcessHet=0.1072;FS=1.927;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=-1.400e-02;SOR=0.548	GT:AD:DP:GQ:PL	0/1:39,25:64:99:684,0,944	19	0	2	0
chr6	30164010	30164010	C	T	exonic	TRIM15	.	nonsynonymous SNV	TRIM15:NM_033229:exon1:c.C326T:p.P109L,	.	.	421	1091	10	0	0	10	0.00456204	.	.	2231646	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.27	T	0.14	B	0.123	B	0.149	N	0.984	N	1.21	L	0.4	T	-1.080	T	0.070	T	0.085	-0.569	1.436	4.46	2.526	-0.038	12.579	0.147	0.0639100743459	0.0004	.	0.0005	0.0004	0.0003	0	0.0005	0.0007	0.0035	0.0002	0.0004786	74	154602	rs144365165	0.0005	0.0005	0.0005	0.0005	0.0109	0.0005	0.0005	0.0088	0.0080	0.0010	0.0007	0.0011	0	0.0002	0.0109	0.0004	0.0009	0.0003	0.0003	0.0003	0.0003	0.0004	0.0007	0.0002	0.0002	0.0004	0.0003	0.0001	0	0.0007	0.0014	0	0.0002	0.0068	0.0003	0.0005	0.0002	0.593	0.05755	T	0.659	0.06533	T	0.14	0.27540	B	0.123	0.32463	B	0.148958	0.18033	N	0.472859	1	0.24812	N	1.235	0.30780	L	0.4	0.57261	T	-1.86	0.43524	N	0.096	0.07673	-1.0796	0.07426	T	0.070	0.28412	T	10	0.018742085	0.00411	T	0.06391	0.69115	D	0.147	0.38986	.	.	0.595389996124	0.59217	0.28006362107753774	0.27919	1.15342620932	0.79294	0.414110958576	0.27026	T	0.028585	0.20673	T	-0.52572	0.00407	T	-0.631027	0.10336	T	0.0339010098842328	0.02621	T	.	.	.	0.09793092	0.23092	0.13871458	0.33119	0.09793092	0.23092	0.13871458	0.33119	-5.777	0.44373	T	.	.	0.157	0.35331	B	.;.	.;.	1.848071	0.23478	16.03	0.69816139107414465	0.09094	0.13203	0.17723	N	AEFBCI	0.170600	0.29752	N	-0.597953326796199	0.19007	0.9913868	-0.591965522607856	0.19702	1.058224	0.999996027343381	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.39	4.46	0.53567	-0.784000	0.04739	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1669:0.8331:0.0:0.0	12.579	0.55734	840	0.37365	B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger;B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	968.98	37	chr6	30164010	.	C	T	968.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.372;DP=945;ExcessHet=0.0000;FS=1.461;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.12;ReadPosRankSum=1.16;SOR=0.537	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1208	20	0	1	0
chr6	30168369	30168369	C	A	exonic	TRIM15	.	nonsynonymous SNV	TRIM15:NM_033229:exon3:c.C547A:p.Q183K,	.	.	.	.	.	.	.	.	.	.	.	3340603	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.24	T	0.751	P	0.309	B	0.000	D	1.000	N	1.78	L	-0.74	T	-1.018	T	0.062	T	0.183	2.061	12.85	4.15	0.848	-0.034	6.577	0.080	0.0349076865907	.	.	4.339e-05	0	0.0002	0	0	4.771e-05	0	0	3.88e-05	6	154602	rs780356510	2.875e-05	2.873e-05	3.406e-05	2.339e-05	4.472e-05	2.153e-05	1.909e-05	2.54e-05	2.224e-05	0	4.472e-05	0	0	0	0	3.417e-05	3.312e-05	0	3.286e-05	3.284e-05	1.285e-05	5.381e-05	4.827e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	4.827e-05	0	0	0	0	0	0	4.41e-05	0	0	0.032	0.44694	D	0.037	0.51737	D	0.751	0.43285	P	0.309	0.41361	B	0.000068	0.52346	D	0.000000	1	0.20930	N	2.455	0.71248	M	-0.74	0.73205	T	-2.8	0.59226	D	0.119	0.10911	-1.0175	0.24528	T	0.062	0.25851	T	10	0.15079594	0.28514	T	0.034908	0.55992	D	0.191	0.46948	.	.	0.737640060157	0.73529	0.21066110522521797	0.20982	0.894154381821	0.70357	0.35856872797	0.19176	T	0.055576	0.30045	T	-0.216607	0.18458	T	-0.373071	0.36531	T	0.320901364088058	0.25858	T	.	.	.	0.12217722	0.28715	0.1983845	0.43669	0.12217722	0.28715	0.1983845	0.43668	-7.754	0.59382	D	.	.	0.134	0.29088	B	.;.	.;.	1.946759	0.24726	16.50	0.97091859237323674	0.32328	0.04582	0.10231	N	AEFBI	0.127806	0.24532	N	-0.34426597781024	0.27483	1.508225	-0.437132820713564	0.23916	1.307	0.555186132653213	0.21368	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.92	4.15	0.47978	0.057000	0.14157	.	.	0.589000	0.31548	0.004000	0.16614	0.609000	0.25758	0.128000	0.19490	0.0:0.6948:0.1472:0.1581	6.577	0.21771	840	0.37365	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2214.98	35	chr6	30168369	.	C	A	2214.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.135e+00;DP=851;ExcessHet=0.0000;FS=2.883;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.57;ReadPosRankSum=0.148;SOR=0.954	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1192	20	0	1	0
chr6	30340549	30340549	A	G	exonic	TRIM39;TRIM39-RPP21	.	nonsynonymous SNV	TRIM39-RPP21:NM_001199119:exon5:c.A848G:p.E283G	.	.	425	1089	8	0	0	8	0.00365965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.59	P	0.333	B	0.006	N	0.963	D	1.345	L	3.19	T	-0.877	T	0.135	T	0.421	4.427	23.5	6.17	2.371	2.972	13.214	0.058	.	0.0006	0.0115815	0.0065	0.0020	0.0005	0.0106	0	0.0003	0.0046	0.0380	0.0056274	870	154602	rs61758102	0.0030	0.0030	0.0018	0.0042	0.0407	0.0029	0.0029	0.0396	0.0391	0.0015	0.0006	0.0004	0.0060	0	0.0036	0.0002	0.0054	0.0407	0.0025	0.0025	0.0016	0.0036	0.0590	0.0023	0.0022	0.0534	0.0512	0.0010	0	0.0001	0.0006	0.0060	0	0	0.0003	0.0014	0.0590	0.031	0.45039	D	0.28	0.37173	T	0.373	0.34173	B	0.179	0.35808	B	0.006413	0.32054	N	0.260847	0.962912	0.38318	D	1.1	0.28011	L	0.0	0.62608	T	-3.28	0.68764	D	0.136	0.28732	-0.8770	0.49997	T	0.135	0.44875	T	10	0.0029112995	0.00047	T	.	.	.	0.058	0.16647	.	.	0.259504319725	0.25562	0.6511736240182044	0.65053	0.137210899291	0.15472	.	.	.	0.097204	0.39979	T	-0.359508	0.04157	T	-0.263422	0.48482	T	0.0260405041037394	0.01412	T	.	.	.	0.0684415	0.14910	0.121030994	0.29205	0.0684415	0.14910	0.121030994	0.29204	-5.635	0.48197	T	.	.	0.219	0.57775	B	.;.;.;.;.;.	.;.;.;.;.;.	3.711685	0.52989	23.3	0.99889453305637876	0.96359	0.83468	0.42583	D	AEFBHCI	0.456240	0.50819	N	0.149963396011878	0.48810	3.088757	0.311801805080077	0.56232	3.786317	0.999999999360383	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	3.015000	0.49286	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.214	0.59270	840	0.37365	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2179.11	35	chr6	30340549	.	A	G	2179.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.225;DP=853;ExcessHet=0.1072;FS=1.207;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=0.588;SOR=0.816	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1120	19	0	2	0
chr6	30546752	30546752	G	A	exonic	GNL1	.	nonsynonymous SNV	GNL1:NM_005275:exon11:c.C1526T:p.A509V,	.	.	431	1071	19	1	0	21	0.00970874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.539	P	0.147	B	0.000	D	1.000	D	1.615	L	0.99	T	-1.096	T	0.052	T	0.361	3.710	18.84	5.44	2.560	6.666	12.182	0.086	.	0.0032	0.00319489	0.0038	0.0003	0.0031	0.0004	0.0008	0.0047	0.0023	0.0059	0.0034476	533	154602	rs145831378	0.0028	0.0028	0.0025	0.0030	0.0082	0.0027	0.0027	0.0063	0.0057	0.0004	0.0028	0.0147	0.0004	0.0005	0.0082	0.0025	0.0039	0.0046	0.0024	0.0024	0.0022	0.0025	0.0048	0.0022	0.0021	0.0033	0.0028	0.0004	0	0.0029	0.0121	0.0008	0.0002	0.0068	0.0032	0.0038	0.0048	0.074	0.34621	T	0.236	0.24694	T	0.002	0.09854	B	0.001	0.04355	B	0.000009	0.62929	D	0.110120	0.999996	0.58761	D	1.665	0.42610	L	0.99	0.41750	T	-2.67	0.57110	D	0.522	0.55193	-1.0959	0.04625	T	0.052	0.22269	T	10	0.0069569647	0.00158	T	.	.	.	0.086	0.25016	.	.	0.151262610727	0.14761	0.7024483770050935	0.70185	0.893744166921	0.70334	0.514862060547	0.40903	T	0.089616	0.38410	T	-0.409983	0.01988	T	-0.36046	0.37999	T	0.0259308743458124	0.01397	T	.	.	.	0.13853389	0.32035	0.25031698	0.50620	0.13853389	0.32035	0.25031698	0.50619	-7.002	0.54048	T	.	.	0.272	0.50627	B	.	.	4.256509	0.64649	24.7	0.99745488045738573	0.83852	0.97412	0.74585	D	AEFBI	0.635611	0.61507	D	0.16132719026619	0.49351	3.136349	0.322455380877727	0.56862	3.850263	0.999998690448539	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	7.116000	0.76750	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0827:0.0:0.9173:0.0	12.182	0.53524	814	0.42100	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	913.98	33	chr6	30546752	.	G	A	913.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.320e-01;DP=772;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=-3.610e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1103	20	0	1	0
chr6	30561923	30561923	C	T	exonic	PRR3	.	nonsynonymous SNV	PRR3:NM_001077497:exon2:c.C196T:p.R66W	.	.	426	1063	33	0	0	33	0.0152849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.002	B	0.003	B	0.304	N	1.000	N	0.345	N	0.86	T	-1.025	T	0.021	T	0.233	1.168	9.753	-0.97	-0.039	0.024	0.341	0.038	.	0.0046	0.00678914	0.0061	0.0017	0.0033	0.0169	0.0011	0.0068	0.0064	0.0036	0.005388	833	154602	rs75541627	0.0057	0.0057	0.0058	0.0057	0.0357	0.0056	0.0056	0.0342	0.0336	0.0008	0.0024	0.0075	0.0357	0.0012	0.0062	0.0053	0.0053	0.0034	0.0041	0.0041	0.0042	0.0039	0.0177	0.0038	0.0037	0.0148	0.0137	0.0013	0.0011	0.0036	0.0066	0.0177	0.0009	0.0034	0.0052	0.0066	0.0033	0.051	0.39575	T	0.021	0.61642	D	0.001	0.09854	B	0.001	0.08700	B	0.303940	0.14549	N	0.575164	0.999974	0.18612	N	0.11	0.08516	N	0.86	0.47477	T	-2.37	0.64710	N	0.24	0.29774	-1.0253	0.21985	T	0.021	0.09056	T	10	0.0036749542	0.00067	T	.	.	.	0.038	0.09825	.	.	0.236890367714	0.23314	0.1353660463522554	0.13460	0.35954593402	0.37645	0.448106825352	0.31685	T	0.078163	0.35827	T	-0.558028	0.00261	T	-0.534119	0.18878	T	0.0101226880329522	0.00136	T	.	.	.	0.069881305	0.15346	0.045393888	0.06098	0.069881305	0.15346	0.045393888	0.06098	-3.18	0.15354	T	.	.	0.084	0.14842	B	.;.	.;.	1.986593	0.25238	16.69	0.934054647915873	0.23166	0.07150	0.13175	N	AEFBCI	0.069741	0.13818	N	-0.995699639391774	0.08696	0.4086778	-0.959403942635411	0.10706	0.5409046	0.999675892065676	0.41644	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.95	-0.97	0.09780	0.029000	0.13555	.	.	-0.171000	0.11205	0.089000	0.22556	0.693000	0.26187	0.990000	0.65344	0.2929:0.287:0.131:0.2891	0.341	0.00311	809	0.43032	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	986.98	34	chr6	30561923	.	C	T	986.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.949;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.85;ReadPosRankSum=-3.350e-01;SOR=0.695	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1414	20	0	1	0
chr6	30647826	30647826	A	G	exonic	C6orf136	.	nonsynonymous SNV	C6orf136:NM_001161376:exon1:c.A595G:p.R199G,	.	.	421	1021	74	6	0	86	0.0404135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.0	B	0.0	B	.	.	0.998	N	0	N	.	.	-0.977	T	0.014	T	0.01	0.757	8.011	-1.41	-0.297	.	3.037	0.075	.	.	0.0171725	0.0293	0.0054	0.0290	0.0278	0	0.0178	0.0541	0.0388	0.003357	519	154602	rs117903822	0.0077	0.0074	0.0070	0.0084	0.0797	0.0076	0.0075	0.0772	0.0762	0.0052	0.0085	0.0167	0.0797	0.0052	0.0338	0.0038	0.0101	0.0258	0.0078	0.0078	0.0069	0.0088	0.0437	0.0075	0.0073	0.0390	0.0372	0.0039	0.0088	0.0118	0.0176	0.0437	0.0058	0.0374	0.0052	0.0123	0.0207	1.0	0.00964	T	0.332	0.18732	T	.	.	.	.	.	.	.	.	.	.	1	0.22124	N	.	.	.	.	.	.	-0.65	0.18877	N	0.01	0.00095	-0.9772	0.35638	T	0.014	0.05657	T	8	0.0018902421	0.00026	T	.	.	.	0.075	0.21907	.	.	.	.	0.06098385558283108	0.06038	1.24459615627	0.81633	.	.	.	0.01798	0.14575	T	-0.709725	0.00032	T	-0.729716	0.04340	T	0.00730309167067027	0.00084	T	0.329067	0.06866	T	.	.	.	.	.	.	.	.	-3.444	0.15656	T	.	.	0.046	0.00059	B	.;.	.;.	1.312319	0.17156	12.99	0.62416210181127441	0.06957	0.00276	0.01495	N	ALL	0.031049	0.03242	N	-1.38486048576254	0.02779	0.123214	-1.38930339050936	0.03365	0.1568165	0.999999999949627	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	3.38	-1.41	0.08473	0.813000	0.26883	.	.	-0.121000	0.13915	0.014000	0.18986	0.926000	0.28431	0.943000	0.48514	0.4582:0.0:0.3434:0.1985	3.037	0.05757	851	0.35303	.;.	.	.	.	.	rs117903822	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	957.11	33	chr6	30647826	.	A	G	957.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.27;DP=728;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.48;ReadPosRankSum=1.07;SOR=0.702	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1223	19	0	2	0
chr6	30685364	30685364	C	G	exonic	PPP1R18	.	nonsynonymous SNV	PPP1R18:NM_133471:exon1:c.G655C:p.V219L	.	.	419	1043	54	6	0	66	0.0306691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.008	B	0.002	B	0.700	N	1.000	N	0.46	N	1.88	T	-0.946	T	0.014	T	0.097	0.949	8.871	1.39	0.344	0.207	11.106	0.021	.	0.0023	0.0061901	0.0061	0.0007	0.0036	0.0014	0.0020	0.0045	0.0069	0.0212	0.0054204	838	154602	rs143519393	0.0042	0.0042	0.0034	0.0049	0.0217	0.0041	0.0041	0.0209	0.0205	0.0005	0.0040	0.0052	0.0004	0.0018	0.0153	0.0031	0.0052	0.0217	0.0038	0.0038	0.0033	0.0042	0.0180	0.0035	0.0034	0.0150	0.0139	0.0006	0	0.0079	0.0046	0.0015	0.0025	0.0272	0.0040	0.0052	0.0180	0.082	0.33254	T	0.255	0.23365	T	0.008	0.14655	B	0.002	0.06944	B	0.700478	0.10098	N	0.818239	1	0.08975	N	2.32	0.66415	M	1.88	0.23884	T	-0.35	0.12847	N	0.132	0.12770	-0.9456	0.41715	T	0.014	0.05705	T	10	0.001848489	0.00025	T	.	.	.	0.021	0.04004	0.264	0.20946	0.0611884634855	0.05136	0.027450092187436007	0.02695	0.448885401441	0.44700	0.363796293736	0.19938	T	0.002987	0.02381	T	-0.614717	0.00119	T	-0.638855	0.09753	T	0.00821828713281253	0.00098	T	.	.	.	0.030433146	0.02707	0.08462599	0.19481	0.030433146	0.02706	0.08462599	0.19481	-3.728	0.19732	T	.	.	0.126	0.26886	B	.;.;.	.;.;.	1.542826	0.19785	14.43	0.89823851812728572	0.19134	0.09276	0.15065	N	AEFDGBHCI	0.099578	0.20041	N	-1.0622982690646	0.07348	0.3410551	-0.975248394405998	0.10343	0.5203191	0.999999959912266	0.74766	0.627647	0.40530	0	0.52208	0.09955	0	0.26897	0.05253	2	0.657601	0.63696	0	.	.	5.66	1.39	0.21325	0.790000	0.26562	.	.	-0.773000	0.03420	0.429000	0.26401	0.000000	0.08366	0.955000	0.50612	0.0:0.6904:0.0:0.3096	11.106	0.47423	862	0.33134	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4247.11	33	chr6	30685364	.	C	G	4247.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.59;DP=1007;ExcessHet=0.1072;FS=1.863;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=0.721;SOR=0.818	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1245	19	0	2	0
chr6	30703983	30703983	C	T	exonic	MDC1	.	nonsynonymous SNV	MDC1:NM_014641:exon10:c.G5200A:p.A1734T,	.	.	424	1017	74	7	0	88	0.0414703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.178	B	0.042	B	0.673	N	1.000	N	-1.1	N	3.55	T	-0.934	T	0.001	T	0.033	-0.370	2.258	-4.12	-0.370	-0.663	0.290	0.018	.	0.0044	0.0165735	0.0110	0.0030	0.0063	0.0409	0.0048	0.0063	0.0132	0.0247	0.0104074	1609	154602	rs75355880	0.0079	0.0079	0.0072	0.0086	0.0759	0.0078	0.0077	0.0737	0.0728	0.0035	0.0078	0.0167	0.0759	0.0053	0.0338	0.0039	0.0100	0.0256	0.0075	0.0075	0.0067	0.0084	0.0438	0.0071	0.0070	0.0391	0.0373	0.0029	0.0088	0.0112	0.0176	0.0438	0.0058	0.0374	0.0053	0.0123	0.0199	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.672941	0.10325	N	0.808128	1	0.08975	N	-1.78	0.00307	N	3.55	0.04746	T	0.94	0.01529	N	0.013	0.00142	-0.9339	0.43560	T	0.001	0.00348	T	10	0.0020232499	0.00028	T	.	.	.	0.018	0.03083	.	.	.	.	0.06377326123958094	0.06316	0.189930224763	0.21315	0.234251990914	0.02297	T	0.016035	0.13332	T	-0.791146	0.00009	T	-0.844117	0.01039	T	0.0050463368276341	0.00054	T	.	.	.	0.014551189	0.00098	0.03780534	0.03512	0.014551189	0.00098	0.03780534	0.03512	-3.401	0.15070	T	.	.	0.074	0.05188	B	.	.	-0.522186	0.01798	0.139	0.65426518840499925	0.07769	0.00870	0.03447	N	AEFDGBCI	0.012979	0.00158	N	-1.56879976541179	0.01427	0.06226877	-1.55244441102163	0.01959	0.08944971	0.999923987511578	0.46280	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.05	-4.12	0.03650	-0.676000	0.05321	.	.	-0.130000	0.13190	0.000000	0.06391	0.000000	0.08366	0.106000	0.18562	0.289:0.2635:0.1486:0.299	0.290	0.00239	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	6175.11	37	chr6	30703983	.	C	T	6175.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.13;DP=1423;ExcessHet=0.1072;FS=0.522;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.91;ReadPosRankSum=-1.030e-01;SOR=0.744	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1295	19	0	2	0
chr6	30704036	30704036	G	A	exonic	MDC1	.	nonsynonymous SNV	MDC1:NM_014641:exon10:c.C5147T:p.T1716I,	.	.	424	1093	5	0	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.978	D	0.836	P	0.159	N	0.998	N	0.69	N	3.44	T	-0.985	T	0.015	T	0.178	2.787	15.28	4.81	2.632	0.969	14.152	0.048	0.00239458090978	.	0.000199681	0.0001	0	0.0002	0	0	0	0.0022	0.0007	0.00011	17	154602	rs201419005	7.388e-05	7.388e-05	2.995e-05	0.0001	0.0014	6.248e-05	5.807e-05	0.0009	0.0008	0	0	0	2.519e-05	0	0.0014	8.993e-07	0.0001	0.0011	3.939e-05	3.937e-05	1.285e-05	6.712e-05	0.0006	1.714e-05	1.129e-05	0.0002	9e-05	0	0	0	0	0.0006	0	0	0	0	0.0006	0.006	0.61437	D	0.025	0.56192	D	0.238	0.30817	B	0.058	0.26451	B	0.159405	0.17711	N	0.416829	0.997915	0.22446	N	0.345	0.11182	N	3.44	0.05375	T	-1.99	0.45949	N	0.118	0.10769	-0.9854	0.33735	T	0.015	0.05801	T	10	0.02635789	0.00804	T	0.002395	0.04673	T	0.048	0.13305	.	.	0.495970961353	0.49232	0.17234769118829787	0.17154	0.228667892589	0.25416	0.258152574301	0.04673	T	0.087236	0.37899	T	-0.530883	0.00379	T	-0.585794	0.14032	T	0.119526860218954	0.14383	T	.	.	.	0.026229687	0.01653	0.060275514	0.11451	0.026229687	0.01653	0.060275514	0.11451	-4.363	0.29051	T	.	.	0.111	0.21503	B	.	.	2.054980	0.26127	17.01	0.97219842178322646	0.32896	0.57510	0.30395	D	AEFDGBCI	0.064494	0.12525	N	-0.0257467217613405	0.40693	2.420931	0.0234853122212775	0.40806	2.441346	0.999999919883426	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.81	4.81	0.61401	0.992000	0.29268	.	.	0.590000	0.31872	0.533000	0.27212	1.000000	0.68203	0.709000	0.34421	0.0:0.0:1.0:0.0	14.152	0.64924	884	0.28482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2910.98	37	chr6	30704036	.	G	A	2910.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.746e+00;DP=1577;ExcessHet=0.0000;FS=1.004;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=-8.500e-02;SOR=0.718	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1295	20	0	1	0
chr6	30704192	30704192	G	C	exonic	MDC1	.	nonsynonymous SNV	MDC1:NM_014641:exon10:c.C4991G:p.T1664S,	.	.	422	1019	74	7	0	88	0.0413923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.066	B	0.065	B	0.676	N	1.000	N	0.62	N	2.67	T	-0.918	T	0.005	T	0.067	-0.390	2.171	-4.79	-1.125	-1.171	3.408	0.006	.	0.0043	0.0167732	0.0112	0.0030	0.0063	0.0421	0.0048	0.0063	0.0166	0.0258	0.0105885	1637	154602	rs80087328	0.0080	0.0080	0.0073	0.0087	0.0768	0.0079	0.0079	0.0745	0.0736	0.0034	0.0078	0.0167	0.0768	0.0053	0.0337	0.0039	0.0121	0.0263	0.0076	0.0077	0.0068	0.0085	0.0442	0.0073	0.0071	0.0395	0.0377	0.0029	0.0088	0.0114	0.0176	0.0442	0.0058	0.0374	0.0053	0.0180	0.0205	0.347	0.12428	T	0.529	0.10138	T	0.021	0.18474	B	0.018	0.18489	B	0.675874	0.10301	N	0.785142	1	0.08975	N	0.785	0.19527	N	2.67	0.12473	T	-0.85	0.23156	N	0.023	0.00407	-0.9176	0.45877	T	0.005	0.01833	T	10	0.0025712848	0.00039	T	.	.	.	0.006	0.00375	0.132	0.03662	.	.	0.052971124096217334	0.05239	0.176861744951	0.19898	0.229384556413	0.01923	T	0.022529	0.17353	T	-0.755738	0.00016	T	-0.796654	0.01987	T	0.00466072554484341	0.00050	T	.	.	.	0.021209378	0.00712	0.022170952	0.00247	0.021209378	0.00712	0.022170952	0.00247	-5.545	0.42287	T	.	.	0.094	0.14293	B	.	.	-0.958933	0.00831	0.028	0.77038592157196695	0.11711	0.12720	0.17439	N	AEFBCI	0.041463	0.06306	N	-1.47856639275995	0.02002	0.08794544	-1.55226613946532	0.01960	0.08950758	0.999416663980499	0.39577	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.93	-4.79	0.02966	-1.465000	0.02463	.	.	-0.858000	0.02657	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0832:0.239:0.1956:0.4822	3.408	0.06922	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	5775.11	37	chr6	30704192	.	G	C	5775.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.89;DP=1613;ExcessHet=0.1072;FS=1.757;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=0.965;SOR=0.537	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1295	19	0	2	0
chr6	30705288	30705288	G	A	exonic	MDC1	.	stopgain	MDC1:NM_014641:exon10:c.C3895T:p.R1299X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	.	.	.	.	0.008	N	1.000	A	.	.	.	.	.	.	.	.	.	12.173	46	3.23	2.145	3.575	10.269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362687413	6.198e-06	6.842e-06	8.221e-06	4.154e-06	8.124e-06	2.92e-06	2.11e-06	3.82e-06	2.77e-06	0	0	0	0	0	0	8.124e-06	0	0	6.612e-06	6.588e-06	0	1.355e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.007509	0.31355	N	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.586	0.60664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413012	0.90647	D	0.355487	0.90530	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.548115	0.96628	36	0.99740810564760529	0.83482	0.89579	0.50134	D	AEFBI	0.046648	0.07769	N	0.559446095650301	0.70660	5.534164	0.280126044387167	0.54381	3.603173	0.991729322328383	0.32587	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.23	3.23	0.36150	1.857000	0.39038	.	.	0.585000	0.30472	0.776000	0.29426	0.937000	0.28687	0.104000	0.18471	0.0:0.0:1.0:0.0	10.269	0.42652	884	0.28482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	5290.98	37	chr6	30705288	.	G	A	5290.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.19;DP=2518;ExcessHet=0.0000;FS=1.740;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.94;MQRankSum=0.00;QD=13.10;ReadPosRankSum=-1.470e-01;SOR=0.745	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1295	20	0	1	0
chr6	30712504	30712504	G	A	exonic	MDC1	.	nonsynonymous SNV	MDC1:NM_014641:exon5:c.C1438T:p.L480F,	.	.	415	1103	4	0	0	4	0.00180995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.185	B	0.121	B	.	.	1.000	N	0.69	N	4.14	T	-0.908	T	0.003	T	0.123	0.523	6.833	-0.466	-0.140	0.414	2.248	0.007	0.0146204584084	.	.	6.884e-05	0	0	0	0	0.0001	0.0011	0	5.17e-05	8	154602	rs779398158	6.572e-05	6.567e-05	7.22e-05	5.917e-05	0.0019	5.499e-05	5.111e-05	0.0011	0.0008	0.0001	0.0002	0	0	0	0.0019	5.126e-05	0.0002	6.956e-05	1.315e-05	1.314e-05	1.285e-05	1.346e-05	2.414e-05	2.18e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	1.47e-05	0	0	0.081	0.33418	T	0.098	0.39040	T	0.031	0.20130	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	2.22	0.62911	M	4.14	0.02839	T	-1.46	0.35792	N	0.131	0.12627	-0.9079	0.47109	T	0.003	0.00897	T	9	0.05364281	0.05588	T	0.01462	0.34856	T	0.007	0.00512	.	.	0.107399877778	0.10242	0.05192616423010705	0.05134	0.511552262533	0.49229	0.24779355526	0.03539	T	0.130576	0.45956	T	-0.451847	0.01102	T	-0.650155	0.08944	T	0.043131175526863	0.04262	T	.	.	.	0.06924056	0.15154	0.11717496	0.28287	0.06924056	0.15154	0.11717496	0.28287	-5.51	0.41961	T	.	.	0.144	0.31733	B	.	.	2.341736	0.30010	18.30	0.9907183325391522	0.51739	0.12278	0.17170	N	AEFDBHCI	.	.	.	-1.2334865147577	0.04522	0.2042574	-1.31640753394029	0.04218	0.1984827	0.999915534871172	0.45857	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	2.5	-0.466	0.11546	0.484000	0.22017	.	.	-0.148000	0.12190	0.011000	0.18532	0.000000	0.08366	0.449000	0.27873	0.3019:0.0:0.4525:0.2456	2.248	0.03790	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1906.98	77	chr6	30712504	.	G	A	1906.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.980;DP=2178;ExcessHet=0.0000;FS=0.636;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.02;ReadPosRankSum=1.14;SOR=0.703	GT:AD:DP:GQ:PL	0/0:101,0:101:99:0,120,1800	20	0	1	0
chr6	30713300	30713300	G	T	exonic	MDC1	.	nonsynonymous SNV	MDC1:NM_014641:exon5:c.C642A:p.F214L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	1.0	D	0.998	D	0.002	N	0.910	N	1.935	M	3.25	T	-1.061	T	0.021	T	0.588	1.735	11.76	3.2	0.663	1.591	6.849	0.124	0.00449054041845	0.0008	0.000399361	0.0005	0.0002	0.0008	0	0	0.0008	0	0	0.000414	64	154602	rs144222920	0.0004	0.0004	0.0004	0.0004	0.0026	0.0004	0.0004	0.0016	0.0013	3.002e-05	0.0008	0.0024	0	3.914e-05	0.0026	0.0004	0.0005	1.163e-05	0.0006	0.0006	0.0005	0.0007	0.0018	0.0005	0.0004	0.0013	0.0011	0.0002	0	0.0018	0.0024	0	9.423e-05	0.0070	0.0006	0.0010	0	0.032	0.44694	D	0.026	0.55759	D	0.993	0.65571	D	0.956	0.69739	D	0.002375	0.36688	N	0.000000	0.972075	0.27536	N	2.455	0.71248	M	3.25	0.06762	T	-3.27	0.65512	D	0.488	0.52208	-1.0612	0.11459	T	0.021	0.08870	T	10	0.040240765	0.02577	T	0.004491	0.11031	T	0.124	0.34239	0.164	0.06842	0.477762074677	0.47404	0.0988376062604004	0.09814	0.783462240501	0.65400	0.614347755909	0.54930	T	0.248613	0.61844	T	-0.367777	0.03708	T	-0.396148	0.33832	T	0.0611190768811512	0.07344	T	.	.	.	0.09634478	0.22691	0.114131406	0.27549	0.09634478	0.22691	0.114131406	0.27548	-1.637	0.02070	T	.	.	0.923	0.84437	P	.	.	2.228821	0.28453	17.80	0.99394906894837542	0.62519	0.91974	0.54667	D	AEFBI	.	.	.	0.0835322933866944	0.45695	2.821775	-0.0378717379271155	0.38020	2.23408	0.999929807656648	0.46280	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.99	3.2	0.35826	0.912000	0.28220	.	.	0.676000	0.76740	0.795000	0.29657	1.000000	0.68203	0.065000	0.16320	0.2117:0.0:0.7883:0.0	6.849	0.23187	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	457.98	77	chr6	30713300	.	G	T	457.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.110e-01;DP=1430;ExcessHet=0.0000;FS=2.755;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.90;ReadPosRankSum=0.064;SOR=1.262	GT:AD:DP:GQ:PL	0/1:24,18:42:99:472,0,723	20	0	1	0
chr6	30915784	30915784	G	A	exonic	VARS2	.	startloss	VARS2:NM_001167733:exon4:c.G3A:p.M1?	Combined oxidative phosphorylation deficiency 20, Autosomal recessive	.	425	1086	11	0	0	11	0.00503894	.	.	413702	Inborn_genetic_diseases|VARS2-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.018	B	0.032	B	0.000	D	1.000	D	-0.27	N	3.31	T	-0.999	T	0.012	T	0.7	2.217	13.37	4.5	2.343	1.856	9.910	0.195	0.00620896170376	0.0053	0.00499201	0.0044	0.0069	0.0057	0	0.0015	0.0053	0.0045	0.0019	0.004379	677	154602	rs141408930	0.0043	0.0043	0.0044	0.0042	0.0102	0.0042	0.0042	0.0081	0.0074	0.0085	0.0058	0.0168	0	0.0019	0.0102	0.0042	0.0054	0.0018	0.0055	0.0055	0.0055	0.0054	0.0070	0.0052	0.0050	0.0063	0.0061	0.0070	0.0011	0.0062	0.0147	0	0.0013	0.0238	0.0051	0.0119	0.0010	0.789	0.03209	T	0.706	0.08715	T	0.004	0.12183	B	0.014	0.16862	B	0.000004	0.62929	D	0.061293	1	0.81001	D	-0.34	0.03507	N	1.63	0.28002	T	-1.37	0.50666	N	0.342	0.53884	-0.9987	0.30283	T	0.012	0.04510	T	10	0.0075319707	0.00286	T	0.006209	0.16288	T	0.195	0.47612	0.503	0.59615	0.130388298395	0.12655	0.35136273888028213	0.35050	0.501566109076	0.48541	0.559248447418	0.47162	T	0.015068	0.29751	T	-0.360026	0.04129	T	-0.285083	0.46281	T	0.00981710686833485	0.00129	T	0.916008	0.70013	D	0.43892142	0.63333	0.35478348	0.61017	0.387841	0.59879	0.27453172	0.53380	-6.578	0.50885	T	.	.	0.321	0.58738	B	.;.;.;.	.;.;.;.	3.000882	0.40094	21.1	0.97311887818852782	0.33332	0.74529	0.36461	D	AEFDGBHCI	0.405353	0.47827	N	-0.43942891074437	0.24099	1.298919	-0.198595089650587	0.31588	1.789102	0.999999999944727	0.74766	0.631981	0.41245	0	0.52208	0.09955	0	0.779548	0.98927	0	0.704051	0.69138	0	.	.	4.5	4.5	0.54382	1.531000	0.35624	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.797:0.203	9.910	0.40568	917	0.20147	Aminoacyl-tRNA synthetase, class Ia;.;Aminoacyl-tRNA synthetase, class Ia;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1788.98	48	chr6	30915784	.	G	A	1788.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.407;DP=1134;ExcessHet=0.0000;FS=4.547;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=0.766;SOR=1.047	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1466	20	0	1	0
chr6	30920403	30920403	T	A	exonic	VARS2	.	nonsynonymous SNV	VARS2:NM_001167733:exon13:c.T944A:p.L315H	Combined oxidative phosphorylation deficiency 20, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.132	B	0.081	B	0.134	N	1.000	N	0.205	N	1.47	T	-1.050	T	0.018	T	0.429	1.376	10.53	4.27	1.711	1.395	7.399	0.148	0.0108522416045	.	.	8.367e-06	0	0	0	0	1.514e-05	0	0	6.5e-06	1	154602	rs755926246	4.793e-06	5.472e-06	2.725e-06	6.883e-06	0.0007	1.99e-06	1.28e-06	0.0002	0.0001	0	0	0	0	0	0.0007	2.699e-06	0	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.095	0.31235	T	0.207	0.29843	T	0.132	0.27209	B	0.081	0.28987	B	0.134212	0.18524	N	0.544734	1	0.08975	N	-0.46	0.02758	N	1.47	0.31987	T	-2.07	0.47344	N	0.433	0.47672	-1.0497	0.14481	T	0.018	0.07659	T	10	0.10396537	0.19141	T	0.010852	0.27853	T	0.148	0.39182	0.531	0.63855	0.340273420219	0.33633	0.47640758769677055	0.47560	0.590791334462	0.54529	0.432230621576	0.29513	T	0.007755	0.07145	T	-0.198228	0.21061	T	-0.458871	0.26722	T	0.089649833796465	0.11176	T	0.564843	0.25169	T	0.13623852	0.31589	0.21674563	0.46313	0.10702737	0.25308	0.23116352	0.48239	-10.582	0.78134	D	.	.	0.132	0.33342	B	.;.;.	.;.;.	2.790188	0.36673	20.3	0.93711069616527831	0.23629	0.11591	0.16734	N	AEFBI	0.104364	0.20883	N	-0.458908590549455	0.23439	1.258712	-0.332101004879464	0.27068	1.499451	0.998329572078748	0.36758	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.27	4.27	0.50009	0.819000	0.26965	.	.	0.665000	0.62972	0.000000	0.06391	0.981000	0.30433	0.998000	0.85391	0.1941:0.0:0.0:0.8059	7.399	0.26123	917	0.20147	Aminoacyl-tRNA synthetase, class Ia;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1156.98	42	chr6	30920403	.	T	A	1156.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.330e-01;DP=925;ExcessHet=0.0000;FS=1.656;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=0.829;SOR=0.944	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1620	20	0	1	0
chr6	30986534	30986541	CCACCAAC	-	exonic	MUC21	.	frameshift deletion	MUC21:NM_001010909:exon2:c.359_366del:p.A120Vfs*2	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	9.625e-05	0.0003	0	0	0.0005	0.0011	6.058e-05	.	.	.	rs748650873	9.851e-05	9.785e-05	9.309e-05	0.0001	0.0009	8.487e-05	8.017e-05	0.0003	0.0002	0.0001	0.0002	0.0007	0	0.0002	0.0009	6.761e-05	0.0002	9.467e-05	0.0001	0.0001	0.0001	0.0001	0.0002	6.536e-05	5.343e-05	4.776e-05	3.346e-05	0	0.0011	0	0.0009	0	0.0004	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	10134.3	432	chr6	30986533	.	GCCACCAAC	G	10134.3	.	AC=1;AF=0.025;AN=40;BaseQRankSum=7.06;DP=10318;ExcessHet=0.0000;FS=2.470;InbreedingCoeff=0.3000;MLEAC=1;MLEAF=0.025;MQ=59.30;MQRankSum=-3.934e+00;QD=13.71;ReadPosRankSum=-4.089e+00;SOR=0.529	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:709,0:709:0:.:.:0,0,0	19	0	1	1
chr6	30986543	30986714	CTGAGTCCAGCACACCCTCCAGTGGGGCCAGCACAGCCACCAACTCTGACTCCAGCACAACCTCCAGTGGGGCTAGCACAGCCACCAACTCTGACTCCAGCACAACCTCCAGTGAGGCCAGCACAGCCACCAACTCTGAGTCCAGCACAACCTCCAGTGGGGCCAGCACAGC	-	exonic	MUC21	.	frameshift deletion	MUC21:NM_001010909:exon2:c.368_539del:p.E124Pfs*262	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	9.632e-05	0.0003	0	0	0.0005	0.0011	6.059e-05	.	.	.	.	7.27e-05	9.648e-05	6.673e-05	7.874e-05	0.0007	6.111e-05	5.71e-05	0.0002	0.0001	9.353e-05	0.0002	0.0005	0	0.0002	0.0007	5.027e-05	0.0001	8.289e-05	9.288e-05	9.241e-05	7.791e-05	0.0001	0.0002	5.579e-05	4.405e-05	2.857e-05	1.866e-05	0	0.0011	0	0.0009	0	0.0004	0	7.387e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	9177.29	432	chr6	30986542	.	TCTGAGTCCAGCACACCCTCCAGTGGGGCCAGCACAGCCACCAACTCTGACTCCAGCACAACCTCCAGTGGGGCTAGCACAGCCACCAACTCTGACTCCAGCACAACCTCCAGTGAGGCCAGCACAGCCACCAACTCTGAGTCCAGCACAACCTCCAGTGGGGCCAGCACAGC	T	9177.29	.	AC=1;AF=0.025;AN=40;BaseQRankSum=4.05;DP=10494;ExcessHet=0.0000;FS=2.446;InbreedingCoeff=0.3000;MLEAC=1;MLEAF=0.025;MQ=59.36;MQRankSum=-4.222e+00;QD=11.84;ReadPosRankSum=-1.387e+00;SOR=0.537	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:709,0:709:0:.:.:0,0,0	19	0	1	1
chr6	30986577	30986577	-	GTCACCAACTCTGGGTCCAGTGTGACCTCCAGTGGAGCCAGCACT	exonic	MUC21	.	nonframeshift insertion	MUC21:NM_001010909:exon2:c.402_403insGTCACCAACTCTGGGTCCAGTGTGACCTCCAGTGGAGCCAGCACT:p.T134_A135insVTNSGSSVTSSGAST	.	.	432	1042	32	2	14	50	0.0169811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0001	0.0003	0.0002	0	0.0002	0.0012	0.0001	.	.	.	rs775032573	0.0063	0.0072	0.0060	0.0066	0.0253	0.0062	0.0062	0.0239	0.0234	0.0075	0.0086	0.0228	0.0253	0.0118	0.0063	0.0049	0.0099	0.0036	0.0019	0.0023	0.0017	0.0021	0.0029	0.0017	0.0016	0.0022	0.0020	0.0014	0	0.0029	0.0083	0.0006	0.0007	0	0.0019	0.0039	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	8671.07	432	chr6	30986577	.	A	AGTCACCAACTCTGGGTCCAGTGTGACCTCCAGTGGAGCCAGCACT	8671.07	.	AC=1;AF=0.028;AN=36;BaseQRankSum=4.56;DP=9916;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3247;MLEAC=1;MLEAF=0.028;MQ=56.48;MQRankSum=-1.213e+01;QD=17.14;ReadPosRankSum=-6.110e+00;SOR=0.672	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:709,0:709:0:.:.:0,0,0	17	0	1	3
chr6	30986592	30986592	C	0	exonic	MUC21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	6165.17	432	chr6	30986592	.	C	G,*	6165.17	.	AC=1,1;AF=0.028,0.028;AN=36;BaseQRankSum=1.61;DP=9807;ExcessHet=0.1128;FS=3.221;InbreedingCoeff=0.0789;MLEAC=1,1;MLEAF=0.028,0.028;MQ=57.72;MQRankSum=-3.235e+00;QD=5.39;ReadPosRankSum=2.99;SOR=0.488	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:709,0,0:709:0:.:.:0,0,0,0,0,0	16	0	1	3
chr6	30986616	30986661	TAGCACAGCCACCAACTCTGACTCCAGCACAACCTCCAGTGAGGCC	0	exonic	MUC21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	13728.66	432	chr6	30986616	.	TAGCACAGCCACCAACTCTGACTCCAGCACAACCTCCAGTGAGGCC	T,CAGCACAGCCACCAACTCTGACTCCAGCACAACCTCCAGTGAGGCC,*	13728.66	.	AC=1,2,1;AF=0.024,0.048,0.024;AN=42;BaseQRankSum=-8.230e-01;DP=9954;ExcessHet=0.6776;FS=6.065;InbreedingCoeff=-0.1053;MLEAC=1,2,1;MLEAF=0.024,0.048,0.024;MQ=57.99;MQRankSum=-4.406e+00;QD=7.47;ReadPosRankSum=1.85;SOR=0.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:338,1,99,0:438:99:.:.:6514,3621,25438,0,13431,16062,7180,17817,16573,24283	17	0	1	0
chr6	30986657	30986657	A	0	exonic	MUC21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	8234.21	432	chr6	30986657	.	A	G,*	8234.21	.	AC=2,1;AF=0.053,0.026;AN=38;BaseQRankSum=0.397;DP=9754;ExcessHet=0.3476;FS=4.024;InbreedingCoeff=0.0459;MLEAC=2,1;MLEAF=0.053,0.026;MQ=57.05;MQRankSum=-7.199e+00;QD=5.26;ReadPosRankSum=-6.990e-01;SOR=0.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:289,99,421:809:99:0|1:30986657_A_*:6833,0,11681,2519,10171,13287:30986657	16	0	2	2
chr6	30986661	30986661	C	0	exonic	MUC21	.	.	.	.	.	454	958	96	0	14	110	0.0477137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	8575.67	432	chr6	30986661	.	C	T,*	8575.67	.	AC=2,1;AF=0.050,0.025;AN=40;BaseQRankSum=-3.158e+00;DP=9758;ExcessHet=0.3476;FS=3.259;InbreedingCoeff=0.0789;MLEAC=2,1;MLEAF=0.050,0.025;MQ=57.03;MQRankSum=-7.002e+00;QD=6.47;ReadPosRankSum=1.40;SOR=0.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:280,99,198:577:99:0|1:30986657_A_*:5927,0,11466,2810,10934,14254:30986657	17	0	2	1
chr6	31026275	31026275	A	0	exonic	MUC22	.	.	.	.	.	442	915	59	11	95	176	0.0423862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	8675.72	395	chr6	31026275	.	A	T,*	8675.72	.	AC=1,8;AF=0.024,0.190;AN=42;BaseQRankSum=-4.499e+00;DP=9847;ExcessHet=0.9430;FS=5.229;InbreedingCoeff=0.0101;MLEAC=1,8;MLEAF=0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=2.13;ReadPosRankSum=0.273;SOR=0.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:550,0,0:550:99:.:.:0,120,1800,120,1800,1800	13	0	1	0
chr6	31028100	31028100	C	T	exonic	MUC22	.	nonsynonymous SNV	MUC22:NM_001198815:exon3:c.C2669T:p.T890I	.	.	422	1096	4	0	0	4	0.00182149	.	.	2211542	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0386462309295	.	0.000399361	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs190445444	0.0003	0.0003	0.0003	0.0003	0.0018	0.0003	0.0003	0.0010	0.0007	0.0002	0.0002	0	0	0.0011	0.0018	0.0003	0.0003	8.844e-05	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	4.845e-05	0	0.0002	0	0	0.0011	0	0.0004	0	0.0002	0.081	0.33418	T	0.084	0.41239	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.96	0.09542	T	-1.34	0.33401	N	0.047	0.01911	.	.	.	.	.	.	.	0.017268628	0.00368	T	0.038646	0.58347	D	.	.	.	.	0.178374595973	0.17440	0.033358582065987324	0.03283	.	.	0.161172777414	0.00012	T	0.004935	0.04354	T	-0.615892	0.00117	T	-0.763881	0.02975	T	.	.	.	0.460054	0.13307	T	0.058346733	0.11728	0.05451429	0.09390	0.058346733	0.11728	0.05451429	0.09390	-6.657	0.51486	T	.	.	0.248	0.48230	B	.	.	0.972671	0.13500	10.02	0.44246270330878457	0.03388	0.07090	0.13116	N	AEFBI	0.042150	0.06502	N	.	.	.	.	.	.	0.00695500578045678	0.11350	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.93	0.895	0.18380	0.078000	0.14615	.	.	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6624:0.2066:0.131	5.403	0.15606	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	11523.98	773	chr6	31028100	.	C	T	11523.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.40;DP=13621;ExcessHet=0.0000;FS=0.519;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.98;MQRankSum=-8.200e-02;QD=12.57;ReadPosRankSum=-1.340e-01;SOR=0.762	GT:AD:DP:GQ:PL	0/0:542,0:542:99:0,120,1800	20	0	1	0
chr6	31028378	31028407	GAGACCACCACAGCCTCTACTGAAGGCTCC	-	exonic	MUC22	.	nonframeshift deletion	MUC22:NM_001198815:exon3:c.2947_2976del:p.T996_T1005del	.	.	421	1076	24	0	1	25	0.0110294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0151	0.0106	0.0217	0.0746	.	0	0	0.0197	0.0001153	3	26028	rs200838925	0.0052	0.0050	0.0041	0.0062	0.0383	0.0051	0.0050	0.0371	0.0367	0.0188	0.0020	0.0004	0.0362	0.0027	0.0141	0.0014	0.0075	0.0383	0.0091	0.0098	0.0082	0.0100	0.0543	0.0087	0.0085	0.0490	0.0470	0.0173	0.0044	0.0036	0	0.0543	0.0018	0.0141	0.0018	0.0086	0.0348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	8788.29	575	chr6	31028377	.	TGAGACCACCACAGCCTCTACTGAAGGCTCC	T	8788.29	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-4.540e-01;DP=12322;ExcessHet=0.0000;FS=0.524;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=59.95;MQRankSum=-1.552e+00;QD=15.75;ReadPosRankSum=-2.380e-01;SOR=0.759	GT:AD:DP:GQ:PL	0/0:542,0:542:99:0,120,1800	19	0	1	1
chr6	31028713	31028713	C	0	exonic	MUC22	.	.	.	.	.	482	658	261	50	71	432	0.215265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	200572.81	770	chr6	31028713	.	C	T,*	200572.81	.	AC=13,2;AF=0.310,0.048;AN=42;BaseQRankSum=1.28;DP=14734;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=13,2;MLEAF=0.310,0.048;MQ=59.98;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-4.400e-01;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:473,0,398:871:99:.:.:15125,16548,36350,0,19802,18602	9	2	8	0
chr6	31029302	31029302	G	A	exonic	MUC22	.	nonsynonymous SNV	MUC22:NM_001198815:exon3:c.G3871A:p.A1291T	.	.	440	1022	56	4	0	64	0.0303605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00958466	0.0191	0	0.0111	0	.	0.0074	0.0254	0.0242	0.0022962	355	154602	rs140778074	0.0095	0.0089	0.0088	0.0101	0.0261	0.0093	0.0093	0.0251	0.0248	0.0010	0.0086	0.0041	0.0008	0.0061	0.0131	0.0090	0.0098	0.0261	0.0082	0.0082	0.0082	0.0081	0.0250	0.0078	0.0077	0.0214	0.0200	0.0014	0.0011	0.0087	0.0040	0.0016	0.0049	0.0216	0.0120	0.0155	0.0250	0.514	0.07401	T	0.697	0.05786	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.53	0.14038	T	-0.24	0.10833	N	0.005	0.00034	.	.	.	.	.	.	.	0.0037527084	0.00070	T	.	.	.	.	.	.	.	.	.	0.00618410336229997	0.00587	.	.	0.202391773462	0.00529	T	0.003239	0.02647	T	-0.782522	0.00011	T	-0.878562	0.00666	T	.	.	.	0.30457	0.05801	T	0.020495566	0.00610	0.042567518	0.05100	0.020495566	0.00610	0.042567518	0.05100	-1.293	0.01390	T	.	.	0.070	0.03336	B	.	.	-1.995273	0.00102	0.002	0.44370061946708228	0.03406	0.00081	0.00551	N	AEFBI	0.009208	0.00051	N	.	.	.	.	.	.	0.00318531519236751	0.09978	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.82	-3.92	0.03880	-6.742000	0.00068	.	.	-3.019000	0.00138	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.52:0.0:0.239:0.241	3.641	0.07706	929	0.16858	.	XXbac-BPG299F13.17|MIR6891|PSORS1C3|XXbac-BPG299F13.17|MIR6891|XXbac-BPG299F13.17|TCF19|XXbac-BPG299F13.17|MIR6891|XXbac-BPG299F13.17|XXbac-BPG299F13.17|XXbac-BPG299F13.17|MIR6891|TCF19|XXbac-BPG299F13.17|MIR6891|XXbac-BPG299F13.17|XXbac-BPG181B23.7|XXbac-BPG299F13.17|HLA-B|XXbac-BPG299F13.17|XXbac-BPG299F13.17|MIR6891|VARS2|XXbac-BPG299F13.17|MIR6891	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Colon_Transverse|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood	TCF19|TCF19|HLA-L	Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Whole_Blood	rs140778074	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025	11686.33	657	chr6	31029302	.	G	A	11686.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.533e+00;DP=13272;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=2.12;SOR=0.682	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:853,0:853:99:.:.:0,120,1800	19	0	1	1
chr6	31029724	31029753	AGGCTCTGAGACCACCACAGCCTCCACTGC	-	exonic	MUC22	.	nonframeshift deletion	MUC22:NM_001198815:exon3:c.4293_4322del:p.A1451_T1460del	.	.	421	1050	18	21	12	72	0.0277778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0008	0.0009	0.0010	0.0037	0.0009	0.0009	0.0032	0.0030	0.0018	0.0037	0.0038	0.0010	0.0020	0.0032	0.0007	0.0016	0.0004	0.0045	0.0038	0.0046	0.0044	0.0074	0.0041	0.0040	0.0059	0.0053	0.0046	0	0.0074	0.0098	0.0021	0.0013	0.0366	0.0042	0.0048	0.0018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	37356.82	708	chr6	31029723	.	AAGGCTCTGAGACCACCACAGCCTCCACTGC	A,AAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC,AAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC	37356.82	.	AC=1,1,3;AF=0.033,0.033,0.100;AN=30;BaseQRankSum=1.54;DP=15267;ExcessHet=0.0409;FS=0.557;InbreedingCoeff=0.0715;MLEAC=1,1,4;MLEAF=0.033,0.033,0.133;MQ=59.44;MQRankSum=-5.220e-01;QD=27.86;ReadPosRankSum=-1.086e+00;SOR=0.767	GT:AD:DP:GQ:PL	0/0:853,0,0,0:853:99:0,120,1800,120,1800,1800,120,1800,1800,1800	11	0	1	6
chr6	31029753	31029753	-	AGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4322_4323insAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC:p.T1460_S1461insAGSETTTASTAGSETTTASTAGSETTTAST	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	37356.82	708	chr6	31029723	.	AAGGCTCTGAGACCACCACAGCCTCCACTGC	A,AAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC,AAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC	37356.82	.	AC=1,1,3;AF=0.033,0.033,0.100;AN=30;BaseQRankSum=1.54;DP=15267;ExcessHet=0.0409;FS=0.557;InbreedingCoeff=0.0715;MLEAC=1,1,4;MLEAF=0.033,0.033,0.133;MQ=59.44;MQRankSum=-5.220e-01;QD=27.86;ReadPosRankSum=-1.086e+00;SOR=0.767	GT:AD:DP:GQ:PL	0/0:853,0,0,0:853:99:0,120,1800,120,1800,1800,120,1800,1800,1800	11	0	1	6
chr6	31029753	31029753	-	AGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4322_4323insAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC:p.T1460_S1461insAGSETTTASTAGSETTTAST	.	.	0	206	1	0	19	20	0.00242131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	37356.82	708	chr6	31029723	.	AAGGCTCTGAGACCACCACAGCCTCCACTGC	A,AAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC,AAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC	37356.82	.	AC=1,1,3;AF=0.033,0.033,0.100;AN=30;BaseQRankSum=1.54;DP=15267;ExcessHet=0.0409;FS=0.557;InbreedingCoeff=0.0715;MLEAC=1,1,4;MLEAF=0.033,0.033,0.133;MQ=59.44;MQRankSum=-5.220e-01;QD=27.86;ReadPosRankSum=-1.086e+00;SOR=0.767	GT:AD:DP:GQ:PL	0/0:853,0,0,0:853:99:0,120,1800,120,1800,1800,120,1800,1800,1800	11	0	1	6
chr6	31029811	31029811	-	GCAGGC	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4380_4381insGCAGGC:p.T1460_S1461insAG	.	.	437	906	156	17	6	196	0.0949051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs28994679	0.0017	0.0017	0.0015	0.0019	0.0071	0.0016	0.0016	0.0053	0.0046	0.0004	0.0019	0.0047	0.0004	0.0061	0.0071	0.0013	0.0023	0.0048	0.0006	0.0006	0.0006	0.0005	0.0010	0.0005	0.0004	0.0006	0.0005	0.0002	0.0014	0.0005	0.0015	0.0002	0.0008	0	0.0008	0.0006	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	42976.19	583	chr6	31029811	.	T	TGCAGGC,*	42976.19	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=-4.195e+00;DP=15094;ExcessHet=1.1607;FS=0.524;InbreedingCoeff=-0.1351;MLEAC=3,2;MLEAF=0.071,0.048;MQ=59.64;MQRankSum=-2.283e+00;QD=9.77;ReadPosRankSum=-2.270e-01;SOR=0.648	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:853,0,0:853:99:.:.:0,120,1800,120,1800,1800	16	0	3	0
chr6	31029811	31029811	T	0	exonic	MUC22	.	.	.	.	.	437	906	156	17	6	196	0.0949051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	42976.19	583	chr6	31029811	.	T	TGCAGGC,*	42976.19	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=-4.195e+00;DP=15094;ExcessHet=1.1607;FS=0.524;InbreedingCoeff=-0.1351;MLEAC=3,2;MLEAF=0.071,0.048;MQ=59.64;MQRankSum=-2.283e+00;QD=9.77;ReadPosRankSum=-2.270e-01;SOR=0.648	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:853,0,0:853:99:.:.:0,120,1800,120,1800,1800	16	0	3	0
chr6	31029812	31029812	-	CTGAGACCACCACAGCCTCCACTG	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4381_4382insCTGAGACCACCACAGCCTCCACTG:p.S1461_G1462insETTTASTA	.	.	445	715	203	2	157	364	0.126451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0015	0.0014	0.0016	0.0071	0.0015	0.0014	0.0052	0.0046	0.0002	0.0014	0.0048	0.0004	0.0062	0.0071	0.0012	0.0021	0.0041	0.0005	0.0005	0.0006	0.0005	0.0013	0.0004	0.0004	0.0005	0.0005	0.0001	0	0.0005	0.0018	0.0002	0.0009	0	0.0007	0.0007	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	60923.36	583	chr6	31029812	.	T	G,TCTGAGACCACCACAGCCTCCACTG,*	60923.36	.	AC=6,3,2;AF=0.158,0.079,0.053;AN=38;BaseQRankSum=-3.870e-01;DP=15677;ExcessHet=7.7275;FS=0.535;InbreedingCoeff=-0.4000;MLEAC=6,3,2;MLEAF=0.158,0.079,0.053;MQ=59.59;MQRankSum=-2.939e+00;QD=6.47;ReadPosRankSum=-4.882e+00;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:763,175,0,0:938:99:0|1:31029812_T_G:3718,0,30468,6012,30991,37003,6012,30991,37003,37003:31029812	8	0	6	2
chr6	31029812	31029812	T	0	exonic	MUC22	.	.	.	.	.	445	715	203	2	157	364	0.126451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	60923.36	583	chr6	31029812	.	T	G,TCTGAGACCACCACAGCCTCCACTG,*	60923.36	.	AC=6,3,2;AF=0.158,0.079,0.053;AN=38;BaseQRankSum=-3.870e-01;DP=15677;ExcessHet=7.7275;FS=0.535;InbreedingCoeff=-0.4000;MLEAC=6,3,2;MLEAF=0.158,0.079,0.053;MQ=59.59;MQRankSum=-2.939e+00;QD=6.47;ReadPosRankSum=-4.882e+00;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:763,175,0,0:938:99:0|1:31029812_T_G:3718,0,30468,6012,30991,37003,6012,30991,37003,37003:31029812	8	0	6	2
chr6	31029828	31029828	A	0	exonic	MUC22	.	.	.	.	.	423	969	80	0	50	130	0.0396432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	5569.5	583	chr6	31029828	.	A	C,*	5569.5	.	AC=2,4;AF=0.050,0.100;AN=40;BaseQRankSum=-1.683e+00;DP=14086;ExcessHet=1.7912;FS=1.401;InbreedingCoeff=-0.1831;MLEAC=2,4;MLEAF=0.050,0.100;MQ=59.56;MQRankSum=-4.977e+00;QD=1.04;ReadPosRankSum=-8.380e+00;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:839,0,130:969:99:0|1:31029812_T_G:2185,4710,39710,0,35001,34613:31029812	14	0	2	1
chr6	31029837	31029839	GTA	-	exonic	MUC22	.	nonframeshift deletion	MUC22:NM_001198815:exon3:c.4406_4408del:p.C1469_T1470delinsS	.	.	427	983	61	0	51	112	0.0300937	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.275e-05	0	0	0	.	0	0	0.0001	.	.	.	rs775610649	0.0023	0.0032	0.0022	0.0024	0.0049	0.0022	0.0022	0.0043	0.0040	0.0009	0.0049	0.0030	0.0036	0.0157	0.0033	0.0018	0.0031	0.0023	0.0026	0.0070	0.0025	0.0026	0.0036	0.0023	0.0023	0.0028	0.0026	0.0008	0.0046	0.0036	0.0024	0.0004	0.0056	0.0036	0.0031	0.0029	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4844.79	583	chr6	31029836	.	TGTA	T,*	4844.79	.	AC=2,4;AF=0.048,0.095;AN=42;BaseQRankSum=-1.082e+00;DP=14123;ExcessHet=1.7912;FS=1.401;InbreedingCoeff=-0.1667;MLEAC=2,4;MLEAF=0.048,0.095;MQ=59.64;MQRankSum=-1.155e+01;QD=0.91;ReadPosRankSum=-9.982e+00;SOR=0.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:839,0,130:969:99:0|1:31029812_T_G:2185,4710,39710,0,35001,34613:31029812	15	0	2	0
chr6	31029836	31029839	TGTA	0	exonic	MUC22	.	.	.	.	.	427	983	61	0	51	112	0.0300937	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4844.79	583	chr6	31029836	.	TGTA	T,*	4844.79	.	AC=2,4;AF=0.048,0.095;AN=42;BaseQRankSum=-1.082e+00;DP=14123;ExcessHet=1.7912;FS=1.401;InbreedingCoeff=-0.1667;MLEAC=2,4;MLEAF=0.048,0.095;MQ=59.64;MQRankSum=-1.155e+01;QD=0.91;ReadPosRankSum=-9.982e+00;SOR=0.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:839,0,130:969:99:0|1:31029812_T_G:2185,4710,39710,0,35001,34613:31029812	15	0	2	0
chr6	31029842	31029842	-	CTG	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4411_4412insCTG:p.T1471_G1472insA	.	.	425	1038	57	0	2	59	0.0267229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.278e-05	0	0	0	.	0	0	0.0001	.	.	.	rs749779546	0.0019	0.0028	0.0019	0.0020	0.0037	0.0019	0.0018	0.0032	0.0030	0.0008	0.0037	0.0027	0.0032	0.0121	0.0027	0.0015	0.0024	0.0014	0.0016	0.0039	0.0015	0.0017	0.0030	0.0014	0.0014	0.0023	0.0020	0.0003	0.0049	0.0030	0.0012	0.0004	0.0046	0.0037	0.0017	0.0015	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	3883.76	583	chr6	31029842	.	A	ACTG	3883.76	.	AC=2;AF=0.050;AN=40;BaseQRankSum=0.430;DP=13550;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0633;MLEAC=2;MLEAF=0.050;MQ=59.63;MQRankSum=-6.315e+00;QD=2.12;ReadPosRankSum=-9.466e+00;SOR=0.682	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:858,0:858:99:.:.:0,120,1800	18	0	2	1
chr6	31029847	31029847	T	0	exonic	MUC22	.	.	.	.	.	427	1042	49	0	4	53	0.0229723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	2266.5	583	chr6	31029847	.	T	C,*	2266.5	.	AC=2,4;AF=0.050,0.100;AN=40;BaseQRankSum=2.16;DP=13767;ExcessHet=1.7912;FS=0.695;InbreedingCoeff=-0.1831;MLEAC=2,4;MLEAF=0.050,0.100;MQ=59.71;MQRankSum=-4.957e+00;QD=0.44;ReadPosRankSum=-1.045e+01;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:843,0,107:950:99:0|1:31029812_T_G:1676,4213,39611,0,35397,35076:31029812	14	0	2	1
chr6	31030100	31030100	G	C	exonic	MUC22	.	nonsynonymous SNV	MUC22:NM_001198815:exon3:c.G4669C:p.G1557R	.	.	428	1075	17	2	0	21	0.00967296	1.0000	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00898562	0.0465	0	0	0	.	0	0	0.0688	0.0022962	355	154602	rs139063656	0.0025	0.0024	0.0014	0.0036	0.0363	0.0024	0.0024	0.0352	0.0348	0.0004	0.0002	0	0.0017	3.034e-05	0.0014	0.0002	0.0045	0.0363	0.0015	0.0015	0.0011	0.0019	0.0359	0.0014	0.0013	0.0315	0.0298	0.0003	0	6.538e-05	0	0.0058	0	0	0.0001	0.0024	0.0359	0.0	0.91255	D	0.028	0.54934	D	.	.	.	.	.	.	.	.	.	.	0.999765	0.20447	N	0	0.06538	N	2.6	0.13204	T	-1.98	0.45769	N	0.465	0.50146	.	.	.	.	.	.	.	0.003114134	0.00052	T	0.09559	0.76455	D	.	.	.	.	.	.	0.07561457441458025	0.07497	.	.	0.258027583361	0.04659	T	0.006331	0.05765	T	-0.593922	0.00159	T	-0.595918	0.13157	T	.	.	.	0.627137	0.24302	T	0.16990691	0.37535	0.26022822	0.51784	0.16990691	0.37535	0.26022822	0.51783	-4.586	0.31995	T	.	.	0.235	0.46881	B	.	.	3.479478	0.48577	22.6	0.9611619590714322	0.28760	0.24204	0.22320	N	AEFGBI	0.053735	0.09709	N	.	.	.	.	.	.	0.00346480110881711	0.10129	0.516011	0.20929	0	0.610034	0.51514	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.39	1.5	0.22029	0.291000	0.18748	.	.	0.611000	0.49015	0.006000	0.17386	1.000000	0.68203	0.060000	0.15972	0.1863:0.0:0.8137:0.0	4.702	0.12213	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3154.98	44	chr6	31030100	.	G	C	3154.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.161e+00;DP=1148;ExcessHet=0.0000;FS=0.462;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.39;ReadPosRankSum=-1.050e-01;SOR=0.737	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr6	31111679	31111679	C	T	exonic	C6orf15	.	stopgain	C6orf15:NM_014070:exon2:c.G680A:p.W227X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.008	N	1.000	D	.	.	.	.	.	.	.	.	.	3.601	18.33	3.51	1.035	1.877	9.472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.372e-06	1.368e-06	1.364e-06	1.38e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008295	0.30918	N	0.154071	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.197	0.21710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.544351	0.95574	D	0.544146	0.95508	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	10.169763	0.99612	45	0.99291713847927288	0.58290	0.62012	0.31654	D	AEFBI	0.177524	0.30477	N	0.384371616690111	0.60575	4.24792	0.201776469683126	0.49947	3.191928	0.998311681984561	0.36741	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.4	3.51	0.39297	1.908000	0.39537	.	.	0.589000	0.31548	0.966000	0.33990	1.000000	0.68203	0.886000	0.42526	0.3853:0.6147:0.0:0.0	9.472	0.38011	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1405.98	72	chr6	31111679	.	C	T	1405.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.921;DP=1632;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.65;ReadPosRankSum=-1.087e+00;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:79,0:79:99:.:.:0,120,1800	20	0	1	0
chr6	31116313	31116313	G	T	exonic	CDSN	.	nonsynonymous SNV	CDSN:NM_001264:exon2:c.C1302A:p.S434R,	Hypotrichosis 2, Autosomal dominant;Peeling skin syndrome 1, Autosomal recessive	.	0	1512	10	0	0	10	0.00329598	.	.	710398	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.04	D	0.971	D	0.775	P	0.292	N	1.000	N	0.805	L	3.18	T	-0.990	T	0.011	T	0.421	2.725	15.07	1.28	0.476	0.532	5.630	0.107	.	0.0011	0.000998403	0.0028	9.747e-05	0.0011	0	0.0223	0.0027	0.0034	0.0002	0.002445	378	154602	rs150846158	0.0022	0.0022	0.0022	0.0022	0.0020	0.0021	0.0021	0.0017	0.0017	0.0002	0.0020	3.829e-05	0	0.0173	0.0012	0.0018	0.0018	0.0006	0.0030	0.0030	0.0023	0.0037	0.0024	0.0027	0.0027	0.0021	0.0020	0.0003	0.0011	0.0018	0	0.0002	0.0229	0	0.0024	0.0005	0.0002	0.005	0.63226	D	0.011	0.64786	D	.	.	.	.	.	.	0.292282	0.14746	N	0.573438	1	0.81001	D	.	.	.	3.18	0.07478	T	-3.46	0.67705	D	0.334	0.37509	-0.9901	0.32576	T	0.011	0.04369	T	10	0.0070687234	0.00161	T	.	.	.	0.107	0.30369	0.326	0.30873	0.280181792013	0.27631	0.2104646889606678	0.20962	0.687456490586	0.60386	0.341345727444	0.16640	T	0.081672	0.36652	T	-0.477192	0.00768	T	-0.462221	0.26357	T	0.0607472863872461	0.07285	T	0.731927	0.34732	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.513	0.65158	A	.	.	3.396617	0.47056	22.4	0.99714549867426672	0.81563	0.57276	0.30334	D	AEFDBI	0.126843	0.24395	N	0.0610725092561053	0.44653	2.735463	0.0182607160661245	0.40562	2.422795	0.999951877079739	0.48110	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.09	1.28	0.20656	0.673000	0.24883	.	.	0.606000	0.46413	0.994000	0.38300	1.000000	0.68203	0.954000	0.50415	0.3559:0.0:0.6441:0.0	5.630	0.16782	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	1825.98	74	chr6	31116313	.	G	T	1825.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.888;DP=1692;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.34;ReadPosRankSum=-1.555e+00;SOR=0.650	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:80,0:80:99:.:.:0,120,1800	20	0	1	0
chr6	31138459	31138459	G	A	exonic	PSORS1C1	.	nonsynonymous SNV	PSORS1C1:NM_014068:exon4:c.G43A:p.G15S,	.	.	434	1012	71	5	0	81	0.0384798	0.8953	0.78	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.002	B	0.0	B	.	.	0.679	N	0	N	2.93	T	-0.906	T	0.003	T	0.111	0.125	4.670	-2.07	-0.539	-1.174	3.524	0.014	.	0.0038	0.028155	0.0171	0.0062	0.0180	0.0502	0.0005	0.0018	0.0126	0.0719	0.0147152	2275	154602	rs79592231	0.0087	0.0087	0.0063	0.0111	0.0830	0.0086	0.0085	0.0806	0.0797	0.0068	0.0158	0.0020	0.0830	0.0005	0.0389	0.0014	0.0079	0.0711	0.0070	0.0070	0.0059	0.0080	0.0561	0.0066	0.0065	0.0506	0.0484	0.0057	0	0.0105	0.0014	0.0497	0.0006	0.0102	0.0015	0.0109	0.0561	0.596	0.05703	T	0.632	0.07150	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.30297	N	0	0.06538	N	2.93	0.09822	T	-2.0	0.46146	N	0.129	0.12341	-0.9064	0.47285	T	0.003	0.01059	T	9	0.0019145608	0.00026	T	0.005003	0.12629	T	0.014	0.01968	.	.	.	.	0.011174808878009649	0.01077	0.395066701546	0.40657	0.272165417671	0.06425	T	0.003193	0.02596	T	-0.758823	0.00015	T	-0.785295	0.02297	T	0.000963482096187824	0.00009	T	.	.	.	0.028497277	0.02197	0.06630027	0.13561	0.028497277	0.02196	0.06630027	0.13561	-3.309	0.13853	T	.	.	0.124	0.26042	B	.	.	1.916377	0.24341	16.36	0.6355789699833716	0.07255	0.00820	0.03314	N	AEFBI	0.054998	0.10047	N	-1.8206001834593	0.00497	0.0213779	-1.85822435189454	0.00590	0.02621353	0.964727559517347	0.28780	0.554377	0.28877	0	0.547309	0.14657	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	2.34	-2.07	0.06873	-1.162000	0.03252	.	.	-1.866000	0.00557	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4029:0.2015:0.3955	3.524	0.07308	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3627.11	89	chr6	31138459	.	G	A	3627.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.90;DP=1838;ExcessHet=0.1072;FS=2.666;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.64;ReadPosRankSum=1.16;SOR=0.551	GT:AD:DP:GQ:PL	0/0:73,0:73:99:0,120,1800	19	0	2	0
chr6	31138724	31138724	-	C	exonic	PSORS1C1	.	frameshift insertion	PSORS1C1:NM_014068:exon5:c.112dupC:p.H40Pfs*3,	.	.	442	561	311	61	147	580	0.278457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	80570.49	135	chr6	31138723	.	TC	TCC,T	80570.49	.	AC=15,5;AF=0.357,0.119;AN=42;BaseQRankSum=0.541;DP=5630;ExcessHet=8.0185;FS=0.525;InbreedingCoeff=-0.3364;MLEAC=15,5;MLEAF=0.357,0.119;MQ=60.00;MQRankSum=0.00;QD=16.94;ReadPosRankSum=0.407;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:191,164,0:355:99:.:.:3920,0,4764,4495,5257,9752	4	3	9	0
chr6	31139016	31139016	T	C	exonic	PSORS1C2	.	nonsynonymous SNV	PSORS1C2:NM_014069:exon1:c.A11G:p.N4S,	.	.	424	1067	31	0	0	31	0.0143187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.004	B	0.003	B	0.858	N	1.000	N	0.805	L	1.94	T	-0.954	T	0.010	T	0.032	1.156	9.706	-5.52	-1.429	-0.722	5.429	0.016	.	0.0032	0.00559105	0.0051	0.0008	0.0036	0.0005	0.0011	0.0049	0.0055	0.0138	0.0048835	755	154602	rs148095595	0.0037	0.0037	0.0032	0.0042	0.0224	0.0036	0.0036	0.0192	0.0180	0.0008	0.0052	0.0093	0.0002	0.0006	0.0224	0.0029	0.0044	0.0141	0.0035	0.0035	0.0030	0.0040	0.0145	0.0032	0.0031	0.0118	0.0108	0.0006	0	0.0077	0.0072	0.0006	9.416e-05	0.0204	0.0040	0.0057	0.0145	0.479	0.08261	T	0.091	0.40110	T	0.004	0.12183	B	0.003	0.08700	B	0.857925	0.08916	N	0.910449	0.999996	0.58761	D	0.625	0.15840	N	1.94	0.22678	T	-0.3	0.11913	N	0.046	0.01825	-0.9539	0.40292	T	0.010	0.03582	T	10	0.005170852	0.00112	T	.	.	.	0.016	0.02506	.	.	0.0482279557977	0.04254	0.058212489981228153	0.05762	0.265596492825	0.29113	0.285623818636	0.08289	T	0.003909	0.03323	T	-0.715145	0.00030	T	-0.788356	0.02210	T	0.00922209648767378	0.00117	T	0.562444	0.19755	T	0.030201409	0.02641	0.026703754	0.00774	0.030201409	0.02641	0.026703754	0.00774	-2.024	0.03273	T	.	.	0.081	0.08368	B	.	.	0.609226	0.09775	6.543	0.9529271797190062	0.26602	0.11298	0.16541	N	AEFDBCI	0.071048	0.14128	N	-1.10584607114366	0.06538	0.3012569	-1.14182271404028	0.06916	0.3345273	0.99999588345578	0.74766	0.559995	0.30671	0	0.547309	0.14657	0	0.527494	0.11647	0	0.562822	0.20929	0	.	.	4.68	-5.52	0.02358	-0.717000	0.05088	.	.	0.597000	0.34315	0.434000	0.26440	0.000000	0.08366	0.803000	0.37862	0.0:0.3563:0.2889:0.3548	5.429	0.15744	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1427.98	43	chr6	31139016	.	T	C	1427.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.979;DP=1249;ExcessHet=0.0000;FS=2.108;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.27;ReadPosRankSum=-2.568e+00;SOR=0.925	GT:AD:DP:GQ:PL	0/1:93,61:154:99:1442,0,2315	20	0	1	0
chr6	31157414	31157414	T	-	exonic	CCHCR1	.	frameshift deletion	CCHCR1:NM_001105563:exon1:c.187delA:p.S63Afs*7	.	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	.	0.0005	0.0005	0.0002	0	0.0012	0.0007	0.0012	0	0.0003946	61	154602	rs372158582	0.0004	0.0004	0.0004	0.0004	0.0023	0.0003	0.0003	0.0013	0.0011	0.0009	0.0002	0.0016	0	0.0013	0.0023	0.0003	0.0004	5.797e-05	0.0004	0.0004	0.0004	0.0004	0.0006	0.0003	0.0003	0.0004	0.0004	0.0002	0	0.0003	0.0014	0	0.0007	0.0034	0.0006	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1333.94	41	chr6	31157413	.	CT	C	1333.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.700e-02;DP=1360;ExcessHet=0.0000;FS=0.834;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.27;ReadPosRankSum=0.443;SOR=0.715	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr6	31162515	31162515	C	T	exonic	TCF19	.	nonsynonymous SNV	TCF19:NM_001077511:exon4:c.C836T:p.A279V	.	.	430	1060	32	0	0	32	0.0148699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.0	B	0.0	B	0.447	N	1.000	N	0.69	N	1.92	T	-0.975	T	0.014	T	0.03	0.254	5.370	-0.546	0.188	-0.639	4.204	0.003	.	0.0098	0.0121805	0.0069	0.0208	0.0043	0.0004	0.0009	0.0051	0.0058	0.0141	0.0061836	956	154602	rs77870954	0.0043	0.0043	0.0039	0.0048	0.0238	0.0042	0.0042	0.0205	0.0197	0.0215	0.0064	0.0093	0.0002	0.0006	0.0238	0.0030	0.0058	0.0143	0.0088	0.0088	0.0085	0.0092	0.0189	0.0084	0.0083	0.0178	0.0173	0.0189	0	0.0098	0.0072	0.0006	9.429e-05	0.0238	0.0042	0.0095	0.0146	0.145	0.25154	T	0.308	0.19845	T	0.0	0.02946	B	0.0	0.01387	B	0.446526	0.04790	N	1.335570	0.999994	0.08975	N	1.1	0.28011	L	1.92	0.23082	T	-0.8	0.22078	N	0.026	0.01004	-0.9747	0.36191	T	0.014	0.05513	T	10	0.0027285218	0.00042	T	.	.	.	0.003	0.00094	.	.	0.0551355673512	0.04727	0.38362942939470823	0.38277	0.49660854432	0.48164	0.361448168755	0.19597	T	0.002216	0.01614	T	-0.725905	0.00025	T	-0.800552	0.01889	T	0.000636903538643171	0.00006	T	0.330167	0.06908	T	0.039620284	0.05505	0.02574424	0.00631	0.039620284	0.05504	0.02574424	0.00630	-3.514	0.16628	T	.	.	0.075	0.05668	B	.;.	.;.	-0.265624	0.02772	0.375	0.9307783710340356	0.22696	0.01652	0.05304	N	AEFDBHCI	0.065613	0.12808	N	-1.19943932523531	0.05010	0.2273709	-1.22629162905742	0.05491	0.2617625	0.999999986182396	0.74766	0.839682	0.99964	0	0.685571	0.66316	0	0.736553	0.94036	0	0.683762	0.67416	0	.	.	4.74	-0.546	0.11248	-1.094000	0.03470	.	.	-0.880000	0.02471	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3883:0.4132:0.118:0.0806	4.204	0.09939	929	0.16858	.;.	.	.	.	.	rs116585049	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1524.98	34	chr6	31162515	.	C	T	1524.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.698e+00;DP=816;ExcessHet=0.0000;FS=3.883;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.72;ReadPosRankSum=0.097;SOR=0.409	GT:AD:DP:GQ:PL	0/1:37,60:97:99:1539,0,962	20	0	1	0
chr6	31269983	31269983	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G998A:p.C333Y	.	.	28	1411	77	6	0	89	0.0305737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.995	D	0.994	D	0.962	U	1.000	N	1.085	L	5.73	T	-0.822	T	0.003	T	0.539	0.828	8.338	1.86	0.718	-0.775	4.945	0.118	.	.	0.023762	0.0107	0.0581	0.0088	0.0010	0.0033	0.0074	0.0108	0.0041	0.005302	138	26028	rs1143551	3.892e-05	0.0019	3.328e-05	4.473e-05	0.0018	2.76e-05	2.395e-05	0.0012	0.0010	0.0003	0	0	0.0018	0	0	7.971e-06	0	2.755e-05	1.559e-05	0.0046	2.983e-05	0	7.996e-05	0	0	.	.	7.996e-05	0	0	0	0	0	0	0	0	0	0.008	0.58626	D	0.442	0.13252	T	0.995	0.67487	D	0.994	0.82059	D	0.961562	0.07721	U	1.025580	1	0.08975	N	.	.	.	5.73	0.00734	T	0.65	0.03297	N	0.057	0.02861	-0.8215	0.53840	T	0.003	0.00864	T	10	0.003534168	0.00063	T	.	.	.	0.118	0.32913	.	.	.	.	0.10940588369650811	0.10869	1.83665520473	0.92112	0.236690431833	0.02500	T	0.006219	0.05657	T	-0.539837	0.00336	T	-0.495566	0.22809	T	0.025896967573812	0.01391	T	0.125887	0.05243	T	.	.	.	.	.	.	.	.	-4.931	0.36082	T	.	.	0.069	0.05491	B	.;.;.	.;.;.	2.340305	0.29987	18.30	0.88826057933371938	0.18286	0.03000	0.07863	N	AEFDBHCI	0.080062	0.16180	N	-0.340673899973216	0.27617	1.51662	-0.569206718883037	0.20298	1.092952	0.999999382160841	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.76	1.86	0.24489	-1.132000	0.03346	.	.	-0.419000	0.05236	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.8191:0.0:0.1809	4.945	0.13338	934	0.15400	.;.;.	.	.	.	.	rs147538248	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.09524	11076.9	99	chr6	31269983	.	C	T	11076.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.051;DP=2814;ExcessHet=0.0082;FS=1.816;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=57.08;MQRankSum=-5.656e+00;QD=26.44;ReadPosRankSum=0.340;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:175,0:175:99:.:.:0,120,1800	18	1	2	0
chr6	31269984	31269984	A	G	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.T997C:p.C333R	.	.	28	1411	77	6	0	89	0.0305737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.995	D	0.994	D	0.962	U	1.000	N	0.74	N	5.72	T	-0.856	T	0.002	T	0.428	0.844	8.410	-2.0	-0.355	-0.711	6.411	0.100	.	.	0.0223642	0.0105	0.0576	0.0087	0.0001	0.0033	0.0073	0.0108	0.0041	0.005033	131	26028	rs41560617	1.038e-05	0.0019	1.28e-05	7.893e-06	0.0003	4.46e-06	3.23e-06	6.847e-05	3.638e-05	0.0003	0	0	0	0	0	6.376e-06	0	2.755e-05	1.569e-05	0.0046	3.001e-05	0	8.044e-05	0	0	.	.	8.044e-05	0	0	0	0	0	0	0	0	0	0.007	0.72154	D	0.273	0.22154	T	0.995	0.67487	D	0.994	0.82059	D	0.961562	0.07721	U	1.025580	1	0.08975	N	.	.	.	5.71	0.00734	T	-1.34	0.33401	N	0.105	0.08925	-0.8562	0.51534	T	0.002	0.00707	T	10	0.0034644306	0.00061	T	.	.	.	0.100	0.28662	.	.	.	.	0.19501021438939248	0.19419	1.88329240083	0.92632	0.232454329729	0.02155	T	0.035636	0.23797	T	-0.554439	0.00274	T	-0.515736	0.20728	T	0.0335258512546306	0.02558	T	0.185981	0.08182	T	.	.	.	.	.	.	.	.	-3.564	0.17338	T	.	.	0.097	0.21877	B	.;.;.	.;.;.	1.353108	0.17613	13.27	0.82700432174482796	0.14329	0.01625	0.05246	N	AEFDBHCI	0.078806	0.15908	N	-0.559233629742458	0.20195	1.062845	-0.820899333920841	0.13990	0.7286657	0.999999254125092	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.76	-2.0	0.07024	-0.417000	0.07153	.	.	-1.050000	0.01643	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3421:0.0:0.0:0.6579	6.411	0.20895	934	0.15400	.;.;.	.	.	.	.	rs140243942	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.09524	11073.9	99	chr6	31269984	.	A	G	11073.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.996;DP=2810;ExcessHet=0.0082;FS=1.816;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=57.05;MQRankSum=-5.656e+00;QD=26.37;ReadPosRankSum=0.175;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:175,0:175:99:.:.:0,120,1800	18	1	2	0
chr6	31269985	31269985	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G996A:p.M332I	.	.	28	1411	77	6	0	89	0.0305737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	0.428	U	1.000	N	0.79	N	5.85	T	-0.941	T	0.001	T	0.443	-0.393	2.159	-5.53	-2.085	-0.612	4.091	0.109	.	.	0.023762	0.0106	0.0578	0.0087	0.0001	0.0033	0.0074	0.0108	0.0041	0.005302	138	26028	rs41540416	1.038e-05	0.0019	1.28e-05	7.893e-06	0.0003	4.46e-06	3.23e-06	6.83e-05	3.634e-05	0.0003	0	0	0	0	0	6.376e-06	0	2.755e-05	1.558e-05	0.0046	2.982e-05	0	7.991e-05	0	0	.	.	7.991e-05	0	0	0	0	0	0	0	0	0	0.03	0.53172	D	0.274	0.22084	T	0.0	0.02946	B	0.001	0.04355	B	0.427676	0.12789	U	0.657459	1	0.08975	N	.	.	.	5.85	0.00662	T	-0.81	0.22294	N	0.035	0.01004	-0.9409	0.42473	T	0.001	0.00222	T	10	0.010112762	0.00226	T	.	.	.	0.109	0.30843	0.333	0.32005	.	.	0.09930668900732408	0.09861	0.548098038175	0.51770	0.312004953623	0.12210	T	0.014848	0.12562	T	-0.586337	0.00176	T	-0.562359	0.16155	T	2.40141039539106e-05	0.00000	T	0.739226	0.35772	T	.	.	.	.	.	.	.	.	-5.08	0.37696	T	.	.	0.159	0.39442	B	.;.;.	.;.;.	0.799758	0.11705	8.284	0.55643753892962067	0.05385	0.03006	0.07873	N	AEFDBHCI	0.063853	0.12364	N	-1.53604031898597	0.01618	0.07072133	-1.66313067783111	0.01309	0.05907979	0.999999998335067	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.76	-5.53	0.02351	-0.595000	0.05822	.	.	0.447000	0.21209	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.11:0.5672:0.1517:0.1711	4.091	0.09446	934	0.15400	.;.;.	.	.	.	.	rs145653234	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.09524	11075.9	99	chr6	31269985	.	C	T	11075.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-7.790e-01;DP=2803;ExcessHet=0.0082;FS=1.816;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=57.00;MQRankSum=-5.656e+00;QD=26.37;ReadPosRankSum=0.165;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:175,0:175:99:.:.:0,120,1800	18	1	2	0
chr6	31270002	31270002	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G979A:p.V327M	.	.	42	1035	385	60	0	505	0.196117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.028	B	0.035	B	.	.	1.000	P	2.105	M	5.37	T	-0.965	T	0.002	T	0.376	-0.110	3.463	-1.63	-0.380	0.547	3.715	0.084	.	.	0.141573	0.1174	0.1904	0.1851	0.0488	0.1727	0.1036	0.1330	0.0921	0.102534	15852	154602	rs146911342	1.427e-05	0.0053	1.28e-05	1.579e-05	0.0002	7.66e-06	5.6e-06	8.98e-05	6.321e-05	0.0002	0	0	0	0	0	3.189e-06	0	0.0002	3.138e-05	0.0086	0	6.583e-05	0.0002	5.21e-06	1.95e-06	2.84e-05	1.186e-05	0.0002	0	0	0	0	0	0	0	0	0	0.047	0.40319	D	0.062	0.46406	T	0.023	0.18885	B	0.021	0.22741	B	.	.	.	.	1	0.08975	P	.	.	.	5.37	0.01042	T	-1.48	0.36980	N	0.17	0.18103	-0.9653	0.38151	T	0.002	0.00585	T	8	0.0033346713	0.00058	T	.	.	.	0.084	0.24469	.	.	.	.	0.14371634720666823	0.14294	0.510872535537	0.49183	0.311629235744	0.12153	T	0.095	0.39449	T	-0.600027	0.00146	T	-0.490854	0.23302	T	0.00723602823328332	0.00083	T	0.783822	0.42110	T	.	.	.	.	.	.	.	.	-7.182	0.55352	T	.	.	0.119	0.26388	B	.;.;.	.;.;.	1.630154	0.20816	14.92	0.35910209056378567	0.02280	0.09829	0.15495	N	AEFDBHCI	0.041671	0.06366	N	-0.93655345300227	0.09997	0.4756529	-1.07653106513011	0.08164	0.4002044	0.999999182371296	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.67	-1.63	0.07900	0.654000	0.24603	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.34:0.3867:0.2733	3.715	0.07965	934	0.15400	.;.;.	.	.	.	.	chr6:31237779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	24199.8	109	chr6	31270002	.	C	T	24199.8	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-8.100e-01;DP=3021;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=10;MLEAF=0.238;MQ=59.14;MQRankSum=-1.400e-01;QD=18.73;ReadPosRankSum=-1.480e-01;SOR=0.710	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:196,0:196:99:.:.:0,120,1800	12	1	8	0
chr6	31270037	31270037	-	GGACAGCCAGGACAGCTG	exonic	HLA-C	.	nonframeshift insertion	HLA-C:NM_001243042:exon5:c.943_944insCAGCTGTCCTGGCTGTCC:p.G314_L315insPAVLAV	.	.	12	1426	78	6	0	90	0.0305914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0083	0.0444	0.0068	0	0.0023	0.0058	0.0116	0.0031	0.0006916	18	26028	rs148706212	1.686e-05	0.0015	1.28e-05	2.105e-05	0.0003	9.41e-06	7.25e-06	0.0001	6.813e-05	0.0003	0	0	0	7.638e-05	0	7.971e-06	0	5.504e-05	1.542e-05	0.0032	2.954e-05	0	7.854e-05	0	0	.	.	7.854e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	10602.86	112	chr6	31270037	.	A	AGGACAGCCAGGACAGCTG	10602.86	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.41;DP=2922;ExcessHet=0.0082;FS=1.277;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=57.91;MQRankSum=-5.782e+00;QD=27.61;ReadPosRankSum=0.098;SOR=0.767	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:182,0:182:99:.:.:0,120,1800	18	1	2	0
chr6	31270044	31270044	C	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G937T:p.A313S	.	.	8	1430	78	6	0	90	0.0305085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.989	D	0.131	U	1.000	N	2.365	M	5.58	T	-0.947	T	0.005	T	0.451	0.465	6.526	1.75	0.672	1.069	7.416	0.083	.	.	0.0209665	0.0084	0.0454	0.0069	0	0.0026	0.0058	0.0093	0.0031	0.0047641	124	26028	rs41545712	2.854e-05	0.0015	2.303e-05	3.42e-05	0.0005	1.868e-05	1.595e-05	0.0002	0.0001	0.0005	0.0002	0	0	0	0	1.116e-05	0	0.0002	0	0.0034	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.014	0.53172	D	0.029	0.54541	D	0.996	0.68779	D	0.989	0.78396	D	0.131306	0.18627	U	0.374715	1	0.08975	N	.	.	.	5.57	0.00853	T	-1.44	0.35991	N	0.144	0.14763	-0.9472	0.41448	T	0.005	0.01833	T	10	0.0030748248	0.00051	T	.	.	.	0.083	0.24192	.	.	0.269111216191	0.26524	0.1421143076834137	0.14134	1.33609069953	0.83747	0.211957156658	0.00897	T	0.028319	0.20539	T	-0.492036	0.00633	T	-0.426902	0.30286	T	0.0487267516968755	0.05274	T	0.611339	0.23205	T	.	.	.	.	.	.	.	.	-8.281	0.62969	D	.	.	0.131	0.31633	B	.;.;.	.;.;.	2.795962	0.36766	20.3	0.47016589134919956	0.03811	0.09575	0.15300	N	AEFBHCI	0.067665	0.13312	N	-0.316326039818362	0.28527	1.574243	-0.572322111535915	0.20216	1.088159	0.999995248611718	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	1.75	0.23707	0.708000	0.25393	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.7284:0.2716:0.0	7.416	0.26217	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.09524	9279.9	112	chr6	31270044	.	C	A	9279.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.835;DP=2882;ExcessHet=0.0082;FS=1.783;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=58.14;MQRankSum=-5.502e+00;QD=25.64;ReadPosRankSum=0.594;SOR=0.801	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:182,0:182:99:.:.:0,120,1800	18	1	2	0
chr6	31270056	31270056	T	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.A925T:p.M309L	.	.	81	51	300	1006	84	2396	0.957746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	1.575	L	5.84	T	-1.004	T	0.001	T	0.425	-0.069	3.663	-3.63	-1.536	-2.290	10.581	0.120	.	.	0.0177716	0.0078	0.0433	0.0067	0.0001	0.0026	0.0052	0.0092	0.0028	0.0070245	1086	154602	rs1050180	2.484e-05	0.0016	2.064e-05	2.915e-05	0.0005	1.588e-05	1.28e-05	0.0002	0.0002	0.0005	0.0001	0	0	0	0	1.125e-05	0	0.0001	3.397e-05	0.0042	3.245e-05	3.565e-05	8.98e-05	5.64e-06	2.11e-06	.	.	8.98e-05	0	0	0	0	0	0	3.028e-05	0	0	0.018	0.50676	D	0.125	0.36101	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.82	0.00657	T	-0.4	0.14978	N	0.067	0.04307	-1.0040	0.28755	T	0.001	0.00378	T	9	0.0030311644	0.00050	T	.	.	.	0.120	0.33359	0.407	0.44066	0.0762999501168	0.06990	0.10785664231938592	0.10714	0.459405056151	0.45523	0.250036120415	0.03772	T	0.006007	0.05450	T	-0.585568	0.00178	T	-0.561255	0.16258	T	0.00351274895036235	0.00037	T	0.210379	0.02537	T	.	.	.	.	.	.	.	.	-5.459	0.41483	T	.	.	0.115	0.25850	B	.;.;.	.;.;.	0.455434	0.08254	4.996	0.33681637653518909	0.02019	0.04374	0.09949	N	AEFBHCI	0.092565	0.18738	N	-1.68195883182571	0.00907	0.0392893	-1.81546310783018	0.00711	0.03167287	0.999999606301239	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	-3.63	0.04238	-3.041000	0.00696	.	.	-2.073000	0.00407	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2105:0.0:0.7895	10.581	0.44447	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.8333	81957.2	114	chr6	31270056	.	T	C,A	81957.2	.	AC=33,4;AF=0.786,0.095;AN=42;BaseQRankSum=-1.136e+00;DP=2977;ExcessHet=1.1607;FS=0.717;InbreedingCoeff=-0.1351;MLEAC=33,4;MLEAF=0.786,0.095;MQ=59.64;MQRankSum=0.00;QD=28.32;ReadPosRankSum=0.291;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:99,81,0:180:99:.:.:1898,0,3734,2195,3977,6172	0	13	5	0
chr6	31270058	31270058	A	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.T923A:p.I308N	.	.	12	1426	78	6	0	90	0.0305914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.009	B	0.016	B	.	.	1.000	N	1.98	M	5.57	T	-0.921	T	0.001	T	0.393	-0.097	3.526	-3.55	-0.726	-0.084	0.327	0.099	.	.	0.0177716	0.0074	0.0413	0.0064	0	0.0023	0.0048	0.0094	0.0028	0.0067399	1042	154602	rs1065600	2.596e-05	0.0015	1.792e-05	3.422e-05	0.0005	1.695e-05	1.377e-05	0.0002	0.0001	0.0005	0.0001	0	0	0	0	1.116e-05	0	0.0001	3.11e-05	0.0036	2.984e-05	3.246e-05	8.032e-05	5.16e-06	1.93e-06	.	.	8.032e-05	0	0	0	0	0	0	2.806e-05	0	0	0.018	0.50676	D	0.115	0.36901	T	0.009	0.15093	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	.	.	.	5.57	0.00885	T	-2.98	0.63901	D	0.388	0.43126	-0.9207	0.45458	T	0.001	0.00408	T	9	0.0062720776	0.00141	T	.	.	.	0.099	0.28413	.	.	0.218845423259	0.21516	0.2566185313009967	0.25575	0.884575161911	0.69923	0.31632065773	0.12863	T	0.076917	0.35532	T	-0.5501	0.00291	T	-0.510308	0.21283	T	0.0162875932992256	0.00399	T	0.744226	0.36418	T	.	.	.	.	.	.	.	.	-11.318	0.81373	D	.	.	0.165	0.37063	B	.;.;.	.;.;.	1.685546	0.21476	15.22	0.38430128270477487	0.02591	0.04413	0.10003	N	AEFBHCI	0.090071	0.18254	N	-1.08415255846282	0.06935	0.3206675	-1.2503667729414	0.05126	0.2434891	0.999998478398119	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	-3.55	0.04343	-0.480000	0.06639	.	.	-0.116000	0.14526	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.332:0.2018:0.2683:0.1978	0.327	0.00290	934	0.15400	.;.;.	.	.	.	.	rs182216723	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.09524	8989.9	96	chr6	31270058	.	A	T	8989.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=3.96;DP=2562;ExcessHet=0.0082;FS=0.397;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=58.57;MQRankSum=-4.898e+00;QD=25.40;ReadPosRankSum=2.01;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:166,0:166:99:.:.:0,120,1800	18	1	2	0
chr6	31270250	31270250	C	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon4:c.G855T:p.M285I	.	.	42	1114	319	47	0	413	0.15638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.001	B	0.005	B	0.002	U	1.000	P	3.3	M	4.31	T	-1.111	T	0.009	T	0.422	-0.903	0.431	2.67	1.821	0.868	9.019	0.090	.	.	0.147564	0.0652	0.1246	0.0907	0.0399	0.0897	0.0532	0.0972	0.0679	0.0598505	9253	154602	rs41540117	0.0001	0.0045	5.08e-05	0.0002	0.0011	0.0001	0.0001	0.0008	0.0007	0.0005	0.0002	0.0001	0.0002	3.795e-05	0	7.457e-05	0.0001	0.0011	1.561e-05	0.0024	2.991e-05	0	0.0002	0	0	.	.	0	0	0.0002	0	0	0	0	0	0	0	0.001	0.78490	D	0.017	0.60337	D	0.0	0.07471	B	0.0	0.11217	B	0.002056	0.37364	U	0.000000	1	0.08975	P	.	.	.	4.31	0.02412	T	1.0	0.01408	N	0.102	0.08506	-1.1114	0.02952	T	0.009	0.03448	T	9	0.0022325218	0.00032	T	.	.	.	0.144	0.38394	0.415	0.45380	.	.	0.40286916197994754	0.40202	0.54758036057	0.51724	0.374997138977	0.21546	T	0.020473	0.16112	T	-0.107029	0.35259	T	-0.391516	0.34375	T	0.0737698282644503	0.09171	T	0.523848	0.17660	T	.	.	.	.	.	.	.	.	-3.499	0.16417	T	.	.	0.17	0.38135	B	.;.;.	.;.;.	1.839496	0.23369	15.99	0.41265010250660528	0.02966	0.31228	0.24284	N	AEFBCI	0.105352	0.21052	N	-0.385752648738085	0.25975	1.414194	-0.472263407324781	0.22921	1.247408	0.999999560978343	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	2.67	0.30756	1.360000	0.33729	.	.	0.539000	0.25131	0.893000	0.31264	0.000000	0.08366	0.008000	0.08271	0.0:1.0:0.0:0.0	9.019	0.35351	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	rs115240290	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.2381	10478.8	66	chr6	31270250	.	C	A	10478.8	.	AC=10;AF=0.238;AN=42;BaseQRankSum=0.683;DP=1987;ExcessHet=1.5138;FS=6.263;InbreedingCoeff=-0.0500;MLEAC=10;MLEAF=0.238;MQ=51.19;MQRankSum=-1.731e+00;QD=13.25;ReadPosRankSum=-1.916e+00;SOR=1.128	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:168,0:168:99:.:.:0,120,1800	12	1	8	0
chr6	31271082	31271082	G	C	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.C610G:p.Q204E	.	.	0	1440	82	0	0	82	0.027684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.0	B	0.002	B	0.066	U	0.993	N	1.595	L	9.55	T	-0.919	T	0.000	T	0.506	0.737	7.911	1.64	0.606	1.230	5.117	0.040	0.00176875394672	.	.	0.0012	0.0025	0.0003	0	0.0008	0.0012	0	0.0018	0.0011449	177	154602	rs796429498	0.0002	0.0006	0.0001	0.0002	0.0007	0.0001	0.0001	0.0003	0.0003	0.0006	0.0003	0.0005	0	0	0.0007	0.0001	0.0002	0.0001	1.508e-05	0.0004	0	3.15e-05	7.378e-05	0	0	.	.	7.378e-05	0	0	0	0	0	0	0	0	0	0.012	0.63226	D	0.137	0.33894	T	0.0	0.02946	B	0.002	0.06944	B	0.065850	0.02193	U	2.663580	0.995838	0.23771	N	.	.	.	9.55	0.00007	T	-1.96	0.46503	N	0.037	0.01498	-0.9192	0.45662	T	0.000	0.00039	T	10	0.03142172	0.01277	T	0.001769	0.03012	T	0.198	0.48105	.	.	0.264547087235	0.26054	0.06743973031026444	0.06681	0.534207440331	0.50835	0.27684956789	0.07057	T	0.037706	0.24575	T	-0.155279	0.27488	T	-0.460824	0.26509	T	0.0457982197301059	0.04748	T	0.158184	0.01407	T	.	.	.	.	.	.	.	.	-11.787	0.83797	D	.	.	0.098	0.16275	B	.;.;.	.;.;.	1.963241	0.24940	16.58	0.64928230975864176	0.07629	0.20245	0.20969	N	AEFBHCI	0.099613	0.20048	N	-0.567676259610921	0.19933	1.047056	-0.569709590382082	0.20285	1.092179	0.999994312471089	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.55	1.64	0.22949	0.047000	0.13941	.	.	0.594000	0.32500	0.047000	0.21291	0.000000	0.08366	0.076000	0.17014	0.0:0.2329:0.529:0.2381	5.117	0.14173	934	0.15400	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2141.92	147	chr6	31271082	.	G	C	2141.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.130e-01;DP=2900;ExcessHet=0.6776;FS=5.478;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=55.53;MQRankSum=-7.176e+00;QD=3.37;ReadPosRankSum=-2.537e+00;SOR=1.313	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:129,0:129:99:.:.:0,120,1800	17	0	4	0
chr6	31271089	31271089	C	G	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G603C:p.E201D	.	.	0	1433	89	0	0	89	0.0301184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.0	B	0.002	B	0.463	N	0.999	N	-2.35	N	5.65	T	-0.906	T	0.000	T	0.535	0.967	8.944	0.453	0.101	-3.936	10.048	0.026	0.00327990498179	.	.	0.0012	0.0025	0.0003	0	0.0008	0.0012	0	0.0018	0.0011319	175	154602	rs17413678	0.0001	0.0006	0.0001	0.0002	0.0007	0.0001	0.0001	0.0004	0.0003	0.0007	0.0002	0.0005	0	3.395e-05	0.0003	0.0001	7.186e-05	0.0001	1.497e-05	0.0004	0	3.125e-05	7.252e-05	0	0	.	.	7.252e-05	0	0	0	0	0	0	0	0	0	0.014	0.59928	D	0.214	0.26549	T	0.0	0.02946	B	0.001	0.06944	B	0.463348	0.04883	N	1.613380	0.999565	0.21423	N	.	.	.	5.65	0.00784	T	-1.57	0.38924	N	0.068	0.04072	-0.9059	0.47343	T	0.000	0.00114	T	10	0.017638266	0.00378	T	0.00328	0.07268	T	0.222	0.51872	0.525	0.62967	0.18995819373	0.18626	0.10834935616144864	0.10763	0.446550992324	0.44524	0.299512207508	0.10328	T	0.039277	0.25133	T	-0.20222	0.20483	T	-0.528252	0.19461	T	0.0309767665415865	0.02142	T	0.309269	0.05988	T	.	.	.	.	.	.	.	.	-5.958	0.45926	T	.	.	0.112	0.25166	B	.;.;.	.;.;.	1.120113	0.15057	11.55	0.64405259372860457	0.07484	0.02110	0.06246	N	AEFBHCI	0.074243	0.14875	N	-1.34702669488082	0.03156	0.1405097	-1.25390729222346	0.05073	0.2408863	0.999991424455028	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.55	0.453	0.15851	-2.693000	0.00901	.	.	-0.340000	0.05703	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:0.3625:0.6374:0.0	10.048	0.41370	934	0.15400	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2332.92	147	chr6	31271089	.	C	G	2332.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.706;DP=2932;ExcessHet=0.6776;FS=5.226;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=55.19;MQRankSum=-6.869e+00;QD=3.53;ReadPosRankSum=-1.531e+00;SOR=1.243	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:129,0:129:99:.:.:0,120,1800	17	0	4	0
chr6	31271103	31271103	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G589A:p.E197K	.	.	0	1403	119	0	0	119	0.0406838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.002	B	0.009	B	0.790	U	0.427	P	3.07	M	5.6	T	-0.366	T	0.302	T	0.65	2.525	14.40	2.71	1.826	-0.307	11.543	0.156	.	.	.	0.1110	0.0746	0.0941	0.2012	0.1819	0.1147	0.0891	0.0572	0.0917647	14187	154602	rs1050357	0.0006	0.0078	0.0006	0.0006	0.0026	0.0005	0.0005	0.0020	0.0018	0.0003	0.0009	0.0002	0.0026	0.0004	0	0.0005	0.0004	0.0012	0.0003	0.0092	0.0002	0.0003	0.0004	0.0002	0.0001	0.0002	0.0002	0.0001	0	0	0	0	0.0002	0	0.0004	0	0	0.093	0.31532	T	0.02	0.59159	D	0.002	0.09854	B	0.006	0.12133	B	0.789762	0.09406	U	0.857122	0.426676	0.32312	P	.	.	.	5.6	0.00825	T	-3.04	0.63782	D	0.031	0.01004	-0.3665	0.73068	T	0.302	0.67297	T	9	0.0043652654	0.00089	T	.	.	.	0.227	0.52620	.	.	.	.	0.223966816434011	0.22311	0.55958892267	0.52497	0.365928024054	0.20246	T	0.015762	0.13159	T	-0.5327	0.00370	T	-0.394143	0.34067	T	0.0614167510250327	0.07389	T	0.586841	0.21439	T	.	.	.	.	.	.	.	.	-6.911	0.53380	T	.	.	0.143	0.35225	B	.;.;.	.;.;.	2.220269	0.28336	17.76	0.92642286042257171	0.22116	0.17864	0.20020	N	AEFBHCI	0.275676	0.39058	N	-0.179300595314162	0.33997	1.935281	-0.334977477670174	0.26977	1.493829	0.99999999125913	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.71	2.71	0.31092	-0.711000	0.05121	.	.	-1.944000	0.00489	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:1.0:0.0:0.0	11.543	0.49932	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	rs145793920	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.04762	2417.11	147	chr6	31271103	.	C	T	2417.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.815;DP=3037;ExcessHet=0.1072;FS=2.412;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=54.23;MQRankSum=1.59;QD=9.55;ReadPosRankSum=1.79;SOR=0.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:131,0:131:99:.:.:0,120,1800	19	0	2	0
chr6	31271120	31271120	C	G	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G572C:p.W191S	.	.	0	1434	88	0	0	88	0.02977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.13	B	0.172	B	0.034	N	1.000	N	1.92	M	9.23	T	-1.055	T	0.000	T	0.632	-0.747	0.827	-5.41	-1.558	-0.230	10.604	0.263	.	.	.	0.0305	0.0409	0.0235	0.0133	0.0139	0.0322	0.04	0.0377	0.0235055	3634	154602	rs150127748	3.447e-05	0.0007	3.541e-05	3.353e-05	0.0001	2.543e-05	2.22e-05	5.793e-05	3.72e-05	8.66e-05	0.0001	0	4.805e-05	0	0	3.358e-05	2.307e-05	0	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.056	0.38407	T	0.235	0.24767	T	0.004	0.12183	B	0.039	0.23607	B	0.034101	0.01782	N	2.640200	0.999999	0.08975	N	.	.	.	9.23	0.00012	T	-8.99	0.98511	D	0.071	0.04426	-1.0547	0.13119	T	0.000	0.00039	T	10	0.017437935	0.00372	T	.	.	.	0.263	0.57612	.	.	.	.	0.47916892798528415	0.47836	0.827582985191	0.67484	0.422887742519	0.28234	T	0.088885	0.38255	T	-0.118559	0.33359	T	-0.408078	0.32447	T	0.055689136153455	0.06473	T	0.00846582	0.00040	T	.	.	.	.	.	.	.	.	-4.058	0.24668	T	.	.	0.164	0.38764	B	.;.;.	.;.;.	1.869959	0.23756	16.14	0.42989600505578496	0.03206	0.03967	0.09375	N	AEFGBHCI	0.128437	0.24621	N	-2.01232931330579	0.00199	0.008528513	-2.15168832890066	0.00144	0.006314187	0.999999987597125	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.71	-5.41	0.02442	0.536000	0.22838	.	.	-1.213000	0.01349	0.798000	0.29695	0.000000	0.08366	0.000000	0.00833	0.2407:0.1633:0.596:0.0	10.604	0.44576	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	2562.44	178	chr6	31271120	.	C	G	2562.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-2.483e+00;DP=3459;ExcessHet=1.1607;FS=0.000;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=54.11;MQRankSum=-2.934e+00;QD=3.07;ReadPosRankSum=2.86;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,15:141:99:0|1:31271120_C_G:251,0,5058:31271120	16	0	5	0
chr6	31271148	31271148	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G544A:p.A182T	.	.	1	1353	168	0	0	168	0.0584551	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.822	P	0.515	P	0.795	U	1.000	N	2.28	M	5.66	T	-0.967	T	0.053	T	0.511	2.068	12.87	-2.58	-0.698	-1.272	0.915	0.025	.	0.0240	.	0.0430	0.0121	0.1132	0.0579	0.0499	0.0394	0.0507	0.0168	0.03368	5207	154602	rs141142418	0.0006	0.0028	0.0006	0.0007	0.0011	0.0006	0.0006	0.0006	0.0005	0.0003	0.0008	0.0135	0.0001	0.0008	0.0011	0.0004	0.0009	0.0008	1.469e-05	0.0021	2.82e-05	0	2.718e-05	0	0	.	.	0	0	0	0	0	0	0	2.718e-05	0	0	0.047	0.40319	D	0.121	0.35970	T	0.822	0.45767	P	0.419	0.45047	B	0.795036	0.06734	U	1.179000	1	0.08975	N	.	.	.	5.66	0.00776	T	-0.89	0.24026	N	0.015	0.00181	-0.9671	0.37794	T	0.053	0.22501	T	10	0.0028352141	0.00045	T	.	.	.	0.119	0.33137	.	.	.	.	0.07332682000125977	0.07269	0.70685437836	0.61463	0.316008090973	0.12816	T	0.037375	0.24453	T	-0.522055	0.00428	T	-0.503075	0.22029	T	0.0104027637738938	0.00143	T	0.0633937	0.00461	T	.	.	.	.	.	.	.	.	-6.365	0.49236	T	.	.	0.098	0.18206	B	.;.;.	.;.;.	1.362665	0.17716	13.33	0.98029197626042341	0.37697	0.01653	0.05307	N	AEFGBHCI	0.078452	0.15829	N	-0.785009583433136	0.13700	0.6767906	-1.04354844085745	0.08841	0.4367424	0.999999235206876	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.81	-2.58	0.05866	-1.307000	0.02841	.	.	-0.270000	0.06752	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1642:0.2513:0.162:0.4225	0.915	0.01221	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2749.11	173	chr6	31271148	.	C	T	2749.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.341e+00;DP=3648;ExcessHet=0.1072;FS=7.721;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=53.20;MQRankSum=5.62;QD=7.07;ReadPosRankSum=3.15;SOR=1.043	GT:AD:DP:GQ:PL	0/0:132,0:132:99:0,120,1800	19	0	2	0
chr6	31271153	31271153	A	0	exonic	HLA-C	.	.	.	.	.	0	22	11	0	193	204	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	37138.39	180	chr6	31271153	.	A	C,T,*	37138.39	.	AC=19,1,4;AF=0.452,0.024,0.095;AN=42;BaseQRankSum=3.30;DP=3892;ExcessHet=30.0624;FS=1.107;InbreedingCoeff=-0.7500;MLEAC=19,1,4;MLEAF=0.452,0.024,0.095;MQ=52.03;MQRankSum=-2.061e+00;QD=9.74;ReadPosRankSum=-8.020e-01;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:89,34,0,15:138:99:.:.:1063,0,2796,1357,3024,4787,731,2419,4297,4670	0	0	16	0
chr6	31271193	31271193	T	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.A499T:p.T167S	.	.	1	1405	114	2	0	118	0.0403005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.026	B	0.041	B	0.140	U	1.000	N	1.745	L	5.52	T	-0.928	T	0.002	T	0.497	1.648	11.47	2.81	1.536	1.002	9.364	0.125	.	.	0.0335463	0.0171	0.0612	0.0102	0.0111	0.0070	0.0151	0.0148	0.0119	0.0013454	208	154602	rs142570222	0.0020	0.0089	0.0018	0.0022	0.0212	0.0019	0.0019	0.0195	0.0188	0.0212	0.0050	0.0157	0.0004	0.0009	0.0146	0.0010	0.0035	0.0035	0.0002	0.0092	0.0002	0.0003	0.0009	0.0001	0.0001	0.0005	0.0004	0.0009	0	0	0	0	0	0	8.097e-05	0	0	0.022	0.48642	D	0.207	0.27145	T	0.026	0.19406	B	0.041	0.23986	B	0.140159	0.18319	U	0.377560	1	0.08975	N	.	.	.	5.52	0.00903	T	-2.36	0.53577	N	0.201	0.22228	-0.9276	0.44487	T	0.002	0.00585	T	10	0.0053441823	0.00117	T	.	.	.	0.125	0.34456	0.712	0.84781	.	.	0.21857788014369137	0.21773	0.461279298288	0.45672	0.424038767815	0.28393	T	0.069533	0.33733	T	-0.490069	0.00649	T	-0.465695	0.25983	T	0.0170237571897238	0.00451	T	0.0849915	0.00624	T	.	.	.	.	.	.	.	.	-6.826	0.52752	T	.	.	0.169	0.37083	B	.;.;.	.;.;.	1.512869	0.19433	14.26	0.6761150136827524	0.08406	0.24039	0.22268	N	AEFDGBHCI	0.169307	0.29613	N	-0.613024539942439	0.18552	0.9640867	-0.655505705163185	0.18078	0.9641463	0.999999998364993	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.81	2.81	0.31971	1.346000	0.33569	.	.	-0.845000	0.02763	0.968000	0.34134	0.000000	0.08366	0.003000	0.05239	0.0:0.0:0.0:1.0	9.364	0.37375	934	0.15400	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	7388.68	177	chr6	31271193	.	T	A	7388.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.59;DP=3586;ExcessHet=0.3300;FS=1.106;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=49.38;MQRankSum=-2.164e+00;QD=13.29;ReadPosRankSum=-2.522e+00;SOR=0.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:134,0:134:99:.:.:0,120,1800	18	0	3	0
chr6	31271207	31271207	G	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.C485A:p.T162N	.	.	2	1446	73	1	0	75	0.0252781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.045	B	0.16	B	0.010	U	1.000	N	3.365	M	9.44	T	-0.951	T	0.000	T	0.457	0.381	6.067	-2.67	-0.721	-4.377	8.222	0.058	.	.	.	0.0285	0.0253	0.0185	0.0022	0.0219	0.0416	0.0234	0.0065	0.0026002	402	154602	rs2308584	0.0010	0.0090	0.0010	0.0010	0.0035	0.0009	0.0009	0.0028	0.0026	0.0035	0.0033	0.0073	0.0002	0.0004	0.0017	0.0008	0.0014	0.0005	0.0001	0.0090	8.544e-05	0.0001	0.0001	4.799e-05	3.361e-05	5.375e-05	3.509e-05	0.0001	0	0	0	0	0	0	0.0001	0	0	0.001	0.78490	D	0.063	0.45110	T	0.045	0.21781	B	0.16	0.34752	B	0.009683	0.01250	U	771.080000	1	0.08975	N	.	.	.	9.44	0.00008	T	-3.35	0.68298	D	0.07	0.04307	-0.9506	0.40868	T	0.000	0.00075	T	10	0.0056905746	0.00126	T	.	.	.	0.186	0.46104	.	.	.	.	0.11310932799472559	0.11238	0.614770505073	0.55979	0.328787267208	0.14750	T	0.015394	0.12921	T	-0.50846	0.00512	T	-0.468836	0.25641	T	0.0708414355338504	0.08768	T	0.00459954	0.00014	T	.	.	.	.	.	.	.	.	-8.6	0.65089	D	.	.	0.183	0.39647	B	.;.;.	.;.;.	1.252472	0.16495	12.58	0.70026550487147099	0.09162	0.01832	0.05685	N	AEFDGBHCI	0.138209	0.25943	N	-1.20749607607456	0.04889	0.2216519	-1.4198435015477	0.03054	0.1417363	0.999999918893126	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.81	-2.67	0.05703	-3.847000	0.00395	.	.	-3.701000	0.00065	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4359:0.0:0.5641:0.0	8.222	0.30707	934	0.15400	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	chr6:31238984	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.09524	4671.92	173	chr6	31271207	.	G	T	4671.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=4.70;DP=3662;ExcessHet=0.6776;FS=0.647;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=50.74;MQRankSum=-3.502e+00;QD=5.80;ReadPosRankSum=-1.296e+00;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,36:148:99:0|1:31271206_G_C:899,0,4464:31271206	17	0	4	0
chr6	31271295	31271295	G	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.C397T:p.L133F	.	.	0	1434	88	0	0	88	0.02977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.999	D	0.998	D	.	.	1.000	N	1.38	L	9.43	T	-0.970	T	0.039	T	0.525	1.795	11.96	-2.84	-0.764	-1.782	3.235	0.011	0.00217142621672	.	.	0.0017	0	0.0010	0	0.0003	0.0020	0.0047	0.0033	3.84e-05	1	26028	rs201232509	4.189e-05	0.0006	3.548e-05	4.826e-05	0.0008	3.193e-05	2.85e-05	0.0005	0.0004	0	0.0008	5.85e-05	0	5.905e-05	0	1.691e-05	0	7.077e-05	1.456e-05	0.0002	0	3.043e-05	0.0002	0	0	.	.	0	0	0.0002	0	0	0	0	0	0	0	0.129	0.26852	T	0.261	0.22962	T	0.999	0.77913	D	0.998	0.88582	D	.	.	.	.	0.999994	0.08975	N	.	.	.	9.43	0.00008	T	-2.12	0.49187	N	0.103	0.09490	-0.9700	0.37200	T	0.039	0.16892	T	9	0.053365707	0.05516	T	0.002171	0.04071	T	0.149	0.39377	.	.	0.15556083564	0.15200	0.05197114042866421	0.05139	1.46494527933	0.86431	0.243654131889	0.03128	T	0.03788	0.24637	T	-0.190747	0.22149	T	-0.511772	0.21132	T	0.0786905586719513	0.09819	T	0.244676	0.09330	T	.	.	.	.	.	.	.	.	-5.97	0.46028	T	.	.	0.142	0.31177	B	.;.;.	.;.;.	1.437331	0.18565	13.80	0.97521242843416844	0.34405	0.01752	0.05517	N	ALL	0.145460	0.26868	N	-0.848663386786969	0.12082	0.5868329	-1.0804277795709	0.08086	0.3960589	0.999999936443293	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.638787	0.57140	0	.	.	2.81	-2.84	0.05408	-3.523000	0.00493	.	.	-0.940000	0.02096	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4266:0.0:0.2662:0.3072	3.235	0.06360	934	0.15400	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	1918.68	124	chr6	31271295	.	G	A	1918.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.18;DP=2573;ExcessHet=0.3300;FS=11.102;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=53.22;MQRankSum=-5.695e+00;QD=4.14;ReadPosRankSum=0.218;SOR=1.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:89,0:89:99:.:.:0,120,1800	18	0	3	0
chr6	31271334	31271334	-	CC	exonic	HLA-C	.	frameshift insertion	HLA-C:NM_001243042:exon3:c.357_358insGG:p.Q120Gfs*32	.	.	2	1358	160	1	1	163	0.0562891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0.0069	0.0046	0.0016	0.0007	0.0034	0.0049	0.0049	0.001921	50	26028	rs748394002	0.0001	0.0010	0.0001	0.0001	0.0008	9.76e-05	9.07e-05	0.0002	0.0002	5.481e-05	0.0001	0.0005	0.0003	6.819e-05	0.0008	8.739e-05	0.0001	0.0003	1.492e-05	0.0003	0	3.118e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0013	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	824.94	110	chr6	31271334	.	G	GCC	824.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=1903;ExcessHet=0.0000;FS=6.213;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.35;MQRankSum=0.171;QD=7.50;ReadPosRankSum=-4.600e-02;SOR=1.426	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,102,1530	20	0	1	0
chr6	31271337	31271338	GG	-	exonic	HLA-C	.	frameshift deletion	HLA-C:NM_001243042:exon3:c.354_355del:p.L119Pfs*19	.	.	27	1333	161	1	0	163	0.0576175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0.0067	0.0047	0.0016	0.0007	0.0034	0.0050	0.0050	0.001921	50	26028	rs778339286	0.0001	0.0010	0.0001	0.0001	0.0008	9.287e-05	8.672e-05	0.0002	0.0001	5.51e-05	0.0001	0.0005	0.0003	6.851e-05	0.0008	8.505e-05	0.0001	0.0003	1.517e-05	0.0003	0	3.171e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0013	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	827.94	109	chr6	31271336	.	AGG	A	827.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.900;DP=1901;ExcessHet=0.0000;FS=6.147;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.45;MQRankSum=0.190;QD=7.60;ReadPosRankSum=-4.170e-01;SOR=1.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,102,1530	20	0	1	0
chr6	31271337	31271337	G	0	exonic	HLA-C	.	.	.	.	.	86	537	715	64	120	963	0.43975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	17754.15	108	chr6	31271337	.	G	T,*	17754.15	.	AC=13,1;AF=0.310,0.024;AN=42;BaseQRankSum=-1.740e-01;DP=1928;ExcessHet=2.0984;FS=6.544;InbreedingCoeff=-0.0716;MLEAC=13,1;MLEAF=0.310,0.024;MQ=56.58;MQRankSum=-3.890e+00;QD=13.85;ReadPosRankSum=-1.971e+00;SOR=1.165	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0,0:45:99:.:.:0,102,1530,102,1530,1530	9	2	9	0
chr6	31272002	31272002	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon1:c.G70A:p.A24T	.	.	7	1505	10	0	0	10	0.00331126	.	.	2822861	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.997	D	0.996	D	.	.	1.000	N	2.825	M	5.47	T	-0.940	T	0.165	T	0.566	2.850	15.49	3.24	1.826	1.756	10.107	0.082	0.00749124753525	.	0.00339457	0.0029	0.0021	0.0021	0	0.0011	0.0041	0.0012	0.0016	0.0024773	383	154602	rs41553415	0.0013	0.0037	0.0012	0.0013	0.0059	0.0012	0.0012	0.0038	0.0032	0.0011	0.0016	0.0115	0	0.0008	0.0059	0.0011	0.0019	0.0010	0.0015	0.0036	0.0016	0.0014	0.0017	0.0013	0.0012	0.0014	0.0013	0.0009	0	0.0015	0.0092	0	0	0.0048	0.0017	0.0018	0.0008	0.0	0.91255	D	0.007	0.69154	D	0.997	0.70673	D	0.996	0.84481	D	.	.	.	.	0.999999	0.08975	N	.	.	.	5.45	0.00969	T	-1.81	0.45404	N	0.303	0.34228	-0.9400	0.42616	T	0.165	0.50258	T	9	0.005843401	0.00130	T	0.007491	0.19872	T	0.122	0.33800	.	.	0.20549828249	0.20151	0.18112102445038905	0.18031	0.501882001943	0.48560	0.328933656216	0.14773	T	0.029397	0.21072	T	-0.399396	0.02336	T	-0.342755	0.40032	T	0.0948244442505244	0.11777	T	0.782222	0.41780	T	.	.	.	.	.	.	.	.	-7.815	0.59802	D	.	.	0.128	0.36811	B	.;.	.;.	3.047363	0.40881	21.3	0.98878135208607609	0.47771	0.04658	0.10332	N	AEFGBHCIJ	0.110950	0.21984	N	-0.253284953467373	0.30972	1.732149	-0.429131982575314	0.24147	1.320662	0.999999996066341	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.24	3.24	0.36257	0.109000	0.15252	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:1.0:0.0:0.0	10.107	0.41710	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1822.98	109	chr6	31272002	.	C	T	1822.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=2105;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=0.075;SOR=0.751	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	20	0	1	0
chr6	31355317	31355317	C	T	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.G895A:p.E299K,	.	.	1	1508	13	0	0	13	0.00429185	0.9995	0.982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	B	0.003	B	0.052	U	0.957	N	2.72	M	2.4	T	-0.957	T	0.124	T	0.58	2.192	13.29	2.28	0.689	1.288	6.408	0.109	0.0122218025182	.	.	0.0002	0.0003	0	0	0	0.0002	0	0.0004	0.0002393	37	154602	rs2308500	1.17e-05	7.253e-05	9.59e-06	1.383e-05	0.0002	7.13e-06	5.83e-06	9.27e-06	4.57e-06	0	0	0	0	0	0.0002	1.085e-05	1.672e-05	3.491e-05	1.738e-05	0.0001	3.341e-05	0	3.426e-05	2.89e-06	1.08e-06	5.68e-06	2.13e-06	0	0	0	0	0	0	0	3.426e-05	0	0	0.011	0.55530	D	0.04	0.50809	D	0.001	0.07471	B	0.003	0.08700	B	0.051841	0.22945	U	0.214071	0.957019	0.26277	N	.	.	.	2.4	0.15608	T	-2.03	0.46673	N	0.276	0.31253	-0.9565	0.39825	T	0.124	0.42862	T	9	0.13269022	0.25254	T	0.012222	0.30597	T	0.203	0.48915	.	.	0.38242337071	0.37855	0.36252558072934316	0.36166	0.248699058187	0.27433	.	.	.	0.02485	0.18695	T	-0.325109	0.06488	T	-0.398796	0.33525	T	0.0325112404537327	0.02390	T	0.739226	0.35772	T	0.5487379	0.69885	0.35058028	0.60665	0.5487379	0.69886	0.35058028	0.60665	-7.555	0.57996	D	.	.	0.106	0.41602	B	.;.;.	.;.;.	3.948253	0.57820	23.9	0.99458550603173124	0.65684	0.43796	0.27177	N	AEFBHCI	0.191715	0.31890	N	0.330483401013941	0.57718	3.940387	0.169612600684755	0.48189	3.038366	0.999997039791642	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	3.16	2.28	0.27583	0.782000	0.26449	.	.	-0.313000	0.06017	0.999000	0.42656	0.000000	0.08366	0.038000	0.14061	0.0:0.8596:0.0:0.1404	6.408	0.20877	934	0.15400	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	357.33	131	chr6	31355317	.	C	T	357.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-3.503e+00;DP=2835;ExcessHet=0.0000;FS=7.848;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=57.76;MQRankSum=-9.261e+00;QD=2.32;ReadPosRankSum=-1.479e+00;SOR=0.984	GT:AD:DP:GQ:PL	0/0:139,0:139:99:0,120,1800	19	0	1	1
chr6	31355338	31355338	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A874G:p.K292E,	.	.	1	1059	462	0	0	462	0.17907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.0	B	0.002	B	0.027	N	1.000	N	-1.24	N	2.69	T	-0.949	T	0.003	T	0.362	-0.629	1.213	-1.11	-0.413	-2.426	4.780	0.023	.	.	.	0.1873	0.2102	0.1521	0.2285	0.1750	0.1708	0.2005	0.2469	0.0006531	17	26028	rs41541515	1.925e-05	0.0003	1.916e-05	1.935e-05	6.078e-05	1.335e-05	1.149e-05	1.006e-05	3.76e-06	6.078e-05	0	0.0005	0	0	0	9.027e-06	3.34e-05	2.33e-05	6.22e-05	0.0011	8.537e-05	3.706e-05	7.636e-05	2.881e-05	2.058e-05	1.414e-05	6.92e-06	7.636e-05	0	0	0.0003	0	0.0001	0	5.327e-05	0	0	0.277	0.15665	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.026571	0.25897	N	0.181463	0.999999	0.08975	N	.	.	.	2.69	0.12268	T	1.44	0.00794	N	0.014	0.00160	-0.9487	0.41194	T	0.003	0.00800	T	10	0.0029622018	0.00048	T	.	.	.	0.023	0.04649	.	.	.	.	0.09070377229671633	0.09003	0.307519446834	0.33047	.	.	.	0.030329	0.21526	T	-0.267069	0.12086	T	-0.621403	0.11076	T	0.00635520461095454	0.00071	T	0.121988	0.02209	T	0.23476017	0.46301	0.11296048	0.27259	0.23476017	0.46301	0.11296048	0.27258	2.737	0.00027	T	.	.	0.051	0.01328	B	.;.;.;.	.;.;.;.	-0.115766	0.03549	0.681	0.33208941956949856	0.01966	0.00329	0.01719	N	AEFDBHCI	0.042199	0.06517	N	-1.61921237088875	0.01172	0.05092742	-1.59245928361148	0.01701	0.07728939	0.99999239206602	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	3.16	-1.11	0.09336	-2.713000	0.00887	.	.	-1.064000	0.01611	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.5345:0.1577:0.3077	4.780	0.12569	934	0.15400	.;Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin-like domain|Immunoglobulin C1-set;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	1204.88	149	chr6	31355338	.	T	C	1204.88	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-2.984e+00;DP=2987;ExcessHet=1.7912;FS=11.295;InbreedingCoeff=-0.1703;MLEAC=5;MLEAF=0.125;MQ=58.62;MQRankSum=-9.798e+00;QD=1.30;ReadPosRankSum=1.79;SOR=1.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:139,0:139:99:.:.:0,120,1800	14	0	6	1
chr6	31355425	31355425	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A787G:p.R263G,	.	.	0	927	595	0	0	595	0.242956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.017	N	0.986	N	-3.21	N	4.34	T	-1.015	T	0.000	T	0.312	0.549	6.971	1.33	0.182	0.951	7.857	0.070	.	.	.	0.2427	0.2221	0.2151	0.2593	0.1977	0.2427	0.2413	0.2835	3.84e-05	1	26028	rs41545916	6.978e-05	0.0017	7.287e-05	6.665e-05	0.0004	5.837e-05	5.445e-05	6.35e-05	2.683e-05	6.07e-05	6.798e-05	0.0015	0	0	0.0004	3.628e-05	0.0001	8.195e-05	0.0003	0.0048	0.0004	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0003	0.0011	0.0003	0	0	0.0003	0.0007	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.017476	0.27716	N	0.165679	0.986046	0.24654	N	.	.	.	4.34	0.02341	T	3.3	0.00105	N	0.051	0.02272	-1.0151	0.25304	T	0.000	0.00114	T	10	0.0015430152	0.00017	T	.	.	.	0.070	0.20419	.	.	.	.	0.3942460569328166	0.39339	0.283348990526	0.30779	.	.	.	0.019855	0.15737	T	-0.268638	0.11909	T	-0.623656	0.10901	T	0.00166754910760778	0.00017	T	0.446155	0.12501	T	0.3324303	0.55668	0.11348576	0.27388	0.3324303	0.55669	0.11348576	0.27388	2.773	0.00026	T	.	.	0.034	0.00010	B	.;.	.;.	0.246319	0.06261	2.715	0.81034162823799205	0.13487	0.00542	0.02495	N	AEFDBHCI	0.071522	0.14241	N	-1.65128738568244	0.01029	0.04464861	-1.46518231632646	0.02636	0.1215648	0.999996036317984	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.663205	0.64265	0	.	.	3.16	1.33	0.20958	1.006000	0.29449	.	.	-1.096000	0.01523	0.050000	0.21411	0.000000	0.08366	0.043000	0.14563	0.0:0.778:0.0:0.222	7.857	0.28649	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.2381	3496.72	194	chr6	31355425	.	T	C	3496.72	.	AC=10;AF=0.238;AN=42;BaseQRankSum=0.611;DP=3822;ExcessHet=6.1002;FS=21.379;InbreedingCoeff=-0.3069;MLEAC=10;MLEAF=0.238;MQ=58.03;MQRankSum=-1.346e+01;QD=1.73;ReadPosRankSum=-2.710e-01;SOR=1.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:139,0:139:99:.:.:0,120,1800	11	0	10	0
chr6	31355485	31355485	G	A	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.C727T:p.R243W,	.	.	2	1475	45	0	0	45	0.015025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.087	B	0.01	B	0.073	U	0.998	N	2.485	M	4.02	T	-0.975	T	0.005	T	0.427	1.748	11.80	-0.095	0.183	0.052	2.536	0.081	.	.	.	0.0756	0.0608	0.0649	0.1536	0.1036	0.0744	0.0567	0.0477	0.0612476	9469	154602	rs77665001	3.623e-05	0.0006	3.746e-05	3.498e-05	6.167e-05	2.813e-05	2.547e-05	2.757e-05	2.427e-05	6.167e-05	2.273e-05	0	5.218e-05	9.623e-05	0	3.658e-05	3.402e-05	0	2.113e-05	0.0007	0	4.407e-05	4.608e-05	3.51e-06	1.31e-06	.	.	4.608e-05	0	0	0	0	0	0	2.056e-05	0	0	0.01	0.56456	D	0.028	0.54934	D	0.087	0.24971	B	0.01	0.14941	B	0.072641	0.21396	U	0.232653	0.998462	0.22137	N	.	.	.	4.02	0.03178	T	-4.6	0.78976	D	0.091	0.06990	-0.9745	0.36235	T	0.005	0.01761	T	10	0.0033483803	0.00058	T	.	.	.	0.081	0.23632	.	.	.	.	0.4886347790284662	0.48783	0.845847542206	0.68292	.	.	.	0.049552	0.28339	T	-0.171938	0.24943	T	-0.484754	0.23942	T	0.0577189491966582	0.06805	T	0.156384	0.01374	T	0.33154765	0.55598	0.21594661	0.46203	0.33154765	0.55598	0.21594661	0.46202	-11.025	0.79796	D	.	.	0.138	0.30049	B	.;.	.;.	3.074374	0.41339	21.3	0.99498701463246364	0.67916	0.07090	0.13116	N	AEFDBHCI	0.280251	0.39411	N	-0.58319343736692	0.19454	1.018365	-0.652664211715875	0.18149	0.9682657	0.999991412378256	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	3.16	-0.095	0.12979	0.423000	0.21032	.	.	-0.218000	0.08083	0.005000	0.17040	0.000000	0.08366	0.484000	0.28656	0.2793:0.0:0.3821:0.3386	2.536	0.04428	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	chr6:31323262	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.02381	55.98	208	chr6	31355485	.	G	A	55.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.80;DP=4223;ExcessHet=0.0000;FS=40.582;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.77;MQRankSum=-1.551e+01;QD=0.19;ReadPosRankSum=-2.250e-01;SOR=3.242	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:211,0:211:99:.:.:0,120,1800	20	0	1	0
chr6	31356181	31356181	T	0	exonic	HLA-B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	57800.2	50	chr6	31356181	.	T	G,*	57800.2	.	AC=38,3;AF=0.905,0.071;AN=42;BaseQRankSum=1.60;DP=1491;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=38,3;MLEAF=0.905,0.071;MQ=50.44;MQRankSum=-8.849e+00;QD=30.79;ReadPosRankSum=-3.020e+00;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,69,7:76:48:0|1:31356168_A_C:3372,280,48,2173,0,1981:31356168	0	17	1	0
chr6	31356197	31356197	C	T	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon3:c.G589A:p.E197K,	.	.	8	1465	49	0	0	49	0.0164485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.994	D	0.985	D	0.805	U	0.897	N	3.645	H	5.6	T	-1.056	T	0.010	T	0.681	1.853	12.16	1.3	0.183	0.314	7.479	0.165	.	.	.	0.0189	0.0129	0.0199	0.0348	0.0234	0.0147	0.0177	0.0294	3.84e-05	1	26028	rs41545114	0.0004	0.0031	0.0003	0.0004	0.0014	0.0003	0.0003	0.0011	0.0010	0.0002	0.0014	0.0001	0.0013	0.0011	0.0003	0.0003	0.0003	0.0004	0.0004	0.0059	0.0004	0.0004	0.0007	0.0003	0.0002	0.0002	0.0001	0.0004	0	0.0007	0	0	0.0008	0	0.0003	0.0016	0	0.012	0.65419	D	0.021	0.58089	D	0.632	0.40232	P	0.417	0.44992	B	0.805050	0.09294	U	0.866418	0.896629	0.27782	N	.	.	.	5.6	0.00825	T	-3.0	0.62343	D	0.082	0.05799	-1.0564	0.12672	T	0.010	0.03492	T	10	0.0079647	0.00181	T	.	.	.	0.165	0.42395	.	.	.	.	0.2591834140118568	0.25832	0.873438287621	0.69479	.	.	.	0.016952	0.13915	T	-0.0549219	0.43696	T	-0.316668	0.42939	T	0.0505667294951351	0.05598	T	0.630337	0.25361	T	0.36580047	0.58273	0.28238165	0.54226	0.36580047	0.58274	0.28238165	0.54225	-7.553	0.57982	D	.	.	0.117	0.42433	B	.;.;.	.;.;.	3.080477	0.41440	21.4	0.94945969232258332	0.25847	0.16475	0.19406	N	AEFDBHCI	0.108565	0.21592	N	-0.152863992918151	0.35113	2.012754	-0.417645654591778	0.24479	1.340699	0.999995060563035	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.554799	0.18163	0	.	.	3.18	1.3	0.20778	-0.350000	0.07769	.	.	0.452000	0.21348	0.000000	0.06391	0.000000	0.08366	0.060000	0.15972	0.0:0.7684:0.0:0.2316	7.479	0.26562	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	191.98	48	chr6	31356197	.	C	T	191.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.13;DP=1485;ExcessHet=0.0000;FS=14.260;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=46.78;MQRankSum=-9.330e-01;QD=2.37;ReadPosRankSum=-1.551e+00;SOR=3.100	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:81,0:81:99:.:.:0,120,1800	20	0	1	0
chr6	31356206	31356206	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon3:c.A580G:p.R194G,	.	.	9	1445	68	0	0	68	0.0229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.999	D	0.863	U	0.999	N	3.79	H	5.47	T	-1.015	T	0.012	T	0.654	2.022	12.72	3.18	1.471	2.066	9.750	0.126	.	.	.	0.0020	0.0119	0.0022	0	0.0009	0.0014	0	0.0016	3.84e-05	1	26028	rs80093308	0.0002	0.0006	0.0001	0.0002	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0.0002	0.0018	0	5.864e-05	0.0006	0.0001	0.0002	0.0002	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.02	0.72224	D	0.998	0.73220	D	0.999	0.92359	D	0.862898	0.08881	U	0.911042	0.999247	0.21461	N	.	.	.	5.47	0.00949	T	-5.43	0.87611	D	0.376	0.41754	-1.0148	0.25400	T	0.012	0.04747	T	10	0.006174743	0.00139	T	.	.	.	0.126	0.34673	.	.	0.365317461125	0.36143	0.3071164602338107	0.30624	0.947260733992	0.72462	.	.	.	0.025706	0.21238	T	0.00180131	0.51901	T	-0.235189	0.51267	T	0.133789763200546	0.15728	T	0.0357298	0.00358	T	0.831728	0.86023	0.84227955	0.90989	0.831728	0.86024	0.84227955	0.90990	-8.746	0.66047	D	.	.	0.251	0.65172	B	.;.;.	.;.;.	3.815724	0.55062	23.6	0.87284372311641101	0.17118	0.22402	0.21734	N	AEFDBHCI	0.171892	0.29889	N	0.103853030491869	0.46642	2.901466	-0.206620998615967	0.31298	1.769936	0.999999931592923	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.554799	0.18163	0	.	.	3.18	3.18	0.35615	1.997000	0.40406	.	.	0.500000	0.22704	0.013000	0.18845	0.000000	0.08366	0.080000	0.17246	0.0:0.0:0.0:1.0	9.750	0.39635	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025	51.33	48	chr6	31356206	.	T	C	51.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.502e+00;DP=1633;ExcessHet=0.0000;FS=0.769;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=50.51;MQRankSum=-1.200e-01;QD=0.50;ReadPosRankSum=-2.556e+00;SOR=0.821	GT:AD:DP:GQ:PL	0/0:81,0:81:99:0,120,1800	19	0	1	1
chr6	31356247	31356247	C	0	exonic	HLA-B	.	.	.	.	.	27	191	3	0	1301	1304	0.00779221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	21954.91	76	chr6	31356247	.	C	A,*	21954.91	.	AC=18,9;AF=0.429,0.214;AN=42;BaseQRankSum=5.54;DP=2356;ExcessHet=8.1482;FS=3.246;InbreedingCoeff=-0.3481;MLEAC=18,9;MLEAF=0.429,0.214;MQ=47.98;MQRankSum=-2.470e+00;QD=9.84;ReadPosRankSum=-1.782e+00;SOR=0.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,56,30:124:99:0|1:31356168_A_C:2119,0,1336,1003,286,2659:31356168	1	0	12	0
chr6	31356389	31356389	G	A	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon3:c.C397T:p.L133F,	.	.	10	1431	80	1	0	82	0.0278533	.	.	2822865	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.29	T	0.005	B	0.013	B	.	.	1.000	N	1.6	L	9.43	T	-0.969	T	0.001	T	0.569	0.516	6.799	-2.16	-0.411	-0.546	5.008	0.140	.	0.0041	0.00638978	0.0074	0.0006	0.0080	0.0003	0.0012	0.0095	0.0134	0.0078	0.0062548	967	154602	rs41558819	0.0010	0.0030	0.0010	0.0011	0.0076	0.0010	0.0009	0.0048	0.0039	0.0030	0.0019	0.0214	0	0.0002	0.0076	0.0005	0.0021	0.0018	0.0001	0.0027	3.967e-05	0.0002	0.0005	4.008e-05	2.601e-05	9.181e-05	3.756e-05	0	0	0.0005	0.0022	0	0	0	7.945e-05	0	0	0.122	0.54683	T	0.293	0.29945	T	0.005	0.12996	B	0.013	0.16460	B	.	.	.	.	0.999999	0.08975	N	.	.	.	9.43	0.00008	T	-2.31	0.51319	N	0.173	0.18512	-0.9694	0.37324	T	0.001	0.00438	T	9	0.008583397	0.00194	T	.	.	.	0.140	0.37593	.	.	0.0138822411134	0.00435	0.027354080535157824	0.02685	0.241525953006	0.26679	.	.	.	0.024715	0.18622	T	-0.504179	0.00542	T	-0.484671	0.23951	T	0.0032787161966323	0.00035	T	0.359464	0.10645	T	0.25326553	0.48348	0.1667133	0.38500	0.25326553	0.48348	0.1667133	0.38499	-6.628	0.51267	T	.	.	0.112	0.31253	B	.;.;.	.;.;.	0.971080	0.13483	9.992	0.93170873193506787	0.22827	0.01842	0.05707	N	ALL	0.081868	0.16572	N	-1.25342463206928	0.04255	0.1916679	-1.32756566347898	0.04078	0.1915775	0.999999866091929	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.554799	0.18163	0	.	.	3.18	-2.16	0.06684	-0.457000	0.06821	.	.	-1.964000	0.00474	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3627:0.0:0.4948:0.1425	5.008	0.13642	934	0.15400	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	832.68	63	chr6	31356389	.	G	A	832.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.83;DP=1405;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=53.39;MQRankSum=-5.224e+00;QD=4.63;ReadPosRankSum=-7.810e-01;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:86,0:86:99:.:.:0,120,1800	18	0	3	0
chr6	31356421	31356421	A	G	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon3:c.T365C:p.M122T,	.	.	18	1502	2	0	0	2	0.000665336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.994	D	0.999	D	0.032	N	1.000	N	3.685	H	5.75	T	-1.018	T	0.009	T	0.583	0.455	6.469	2.0	0.446	1.021	6.594	0.084	0.0023620333936	0.0006	0.000199681	0.0006	0.0003	0	0	0.0012	0.0008	0.0017	0	0.0004075	63	154602	rs41562913	0.0006	0.0005	0.0005	0.0006	0.0040	0.0005	0.0005	0.0019	0.0013	0.0009	0.0002	0.0002	0	0.0026	0.0040	0.0005	0.0003	9.721e-05	0.0007	0.0007	0.0008	0.0007	0.0010	0.0005	0.0005	0.0007	0.0006	0.0002	0	0.0005	0	0	0.0011	0.0250	0.0010	0	0	0.003	0.68238	D	0.053	0.54159	T	0.01	0.15535	B	0.313	0.41496	B	0.031690	0.25133	N	0.184846	1	0.08975	N	.	.	.	5.57	0.00853	T	-5.16	0.83422	D	0.424	0.46368	-1.0181	0.24334	T	0.009	0.03227	T	10	0.0015561283	0.00018	T	0.002362	0.04590	T	0.084	0.24469	.	.	0.20549828249	0.20151	0.27154813666473754	0.27067	0.895469679383	0.70442	.	.	.	0.058393	0.34300	T	-0.336806	0.05613	T	-0.361891	0.37833	T	0.132099922488932	0.15575	T	0.39616	0.09972	T	0.51259834	0.67831	0.7082382	0.82794	0.51259834	0.67832	0.7082382	0.82795	-6.845	0.52893	T	.	.	0.169	0.54123	B	.;.;.	.;.;.	1.556052	0.19936	14.51	0.34461057037337817	0.02109	0.09655	0.15362	N	AEFDGBHCI	0.124825	0.24106	N	-0.308225844017886	0.28835	1.593802	-0.569217599681405	0.20298	1.092935	0.999999883386496	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.554799	0.18163	0	.	.	3.18	2.0	0.25495	1.486000	0.35138	.	.	0.565000	0.28586	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.8773:0.0:0.1227:0.0	6.594	0.21858	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	575.98	44	chr6	31356421	.	A	G	575.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=1090;ExcessHet=0.0000;FS=11.685;InbreedingCoeff=-0.0248;MLEAC=1;MLEAF=0.024;MQ=57.36;MQRankSum=0.678;QD=12.25;ReadPosRankSum=0.860;SOR=2.373	GT:AD:DP:GQ:PL	0/0:86,0:86:99:0,120,1800	20	0	1	0
chr6	31356431	31356431	G	0	exonic	HLA-B	.	.	.	.	.	137	311	365	102	607	1176	0.47775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	9973.12	43	chr6	31356431	.	G	T,*	9973.12	.	AC=16,13;AF=0.381,0.310;AN=42;BaseQRankSum=1.15;DP=1007;ExcessHet=1.3217;FS=1.278;InbreedingCoeff=-0.0027;MLEAC=16,13;MLEAF=0.381,0.310;MQ=57.28;MQRankSum=-3.660e-01;QD=10.84;ReadPosRankSum=0.037;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,40,0:73:99:0|1:31356431_G_T:1580,0,1265,1680,1386,3065:31356431	2	3	5	0
chr6	31356716	31356717	CA	0	exonic	HLA-B	.	.	.	.	.	0	89	17	5	115	142	0.131707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	8236.57	83	chr6	31356716	.	CA	C,*	8236.57	.	AC=9,7;AF=0.214,0.167;AN=42;BaseQRankSum=0.225;DP=1092;ExcessHet=0.3152;FS=5.506;InbreedingCoeff=0.1923;MLEAC=9,7;MLEAF=0.214,0.167;MQ=54.99;MQRankSum=-6.619e+00;QD=10.81;ReadPosRankSum=-2.540e-01;SOR=1.129	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,42:42:99:1|1:31356711_C_CGGAG:1890,1890,1890,126,126,0:31356711	9	1	5	0
chr6	31356717	31356720	AGGT	0	exonic	HLA-B	.	.	.	.	.	38	705	540	138	101	917	0.366577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	6123.37	83	chr6	31356717	.	AGGT	A,*	6123.37	.	AC=7,9;AF=0.167,0.214;AN=42;BaseQRankSum=1.37;DP=1099;ExcessHet=0.3152;FS=5.478;InbreedingCoeff=0.1923;MLEAC=7,9;MLEAF=0.167,0.214;MQ=53.41;MQRankSum=-6.729e+00;QD=7.95;ReadPosRankSum=0.357;SOR=1.082	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,42,0:42:99:1|1:31356711_C_CGGAG:1890,126,0,1890,126,1890:31356711	9	1	3	0
chr6	31356719	31356720	GT	0	exonic	HLA-B	.	.	.	.	.	10	742	10	2	758	772	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	8459.57	86	chr6	31356719	.	GT	G,*	8459.57	.	AC=9,7;AF=0.214,0.167;AN=42;BaseQRankSum=1.98;DP=1112;ExcessHet=0.3152;FS=5.449;InbreedingCoeff=0.1923;MLEAC=9,7;MLEAF=0.214,0.167;MQ=54.97;MQRankSum=-6.719e+00;QD=10.80;ReadPosRankSum=-1.130e-01;SOR=1.089	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,42:42:99:1|1:31356711_C_CGGAG:1890,1890,1890,126,126,0:31356711	9	1	5	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	858.89	101	chr6	31356748	.	CCT	*,C	858.89	.	AC=41,1;AF=0.976,0.024;AN=42;DP=2084;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=54.46;QD=0.42;SOR=1.514	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,45,24:69:99:0|1:31356746_T_C:2897,1008,872,1890,0,1817:31356746	0	20	0	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	29744.11	115	chr6	31356827	.	T	C,*	29744.11	.	AC=12,23;AF=0.286,0.548;AN=42;DP=3294;ExcessHet=2.5830;FS=0.696;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=51.01;QD=9.20;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,175:175:99:1|1:31356809_C_T:7814,7814,7814,527,527,0:31356809	0	5	0	0
chr6	31410618	31410618	T	G	exonic	MICA	.	nonsynonymous SNV	MICA:NM_000247:exon2:c.T146G:p.V49G	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.012	B	0.009	B	0.665	N	1.000	N	-3.12	N	6.75	T	-0.985	T	0.000	T	0.241	-1.776	0.010	-2.26	-0.358	-0.737	2.599	0.078	.	0.0057	0.00698882	0.0022	0.0205	0.0004	0.0007	0.0012	0.0006	0.0011	0.0002	0.0020763	321	154602	rs17200158	0.0008	0.0008	0.0009	0.0007	0.0191	0.0008	0.0008	0.0178	0.0174	0.0191	0.0008	7.653e-05	0.0002	0.0013	0.0016	0.0003	0.0012	0.0001	0.0056	0.0056	0.0055	0.0056	0.0182	0.0052	0.0051	0.0172	0.0167	0.0182	0	0.0020	0	0.0002	0.0007	0.0068	0.0006	0.0057	0	1.0	0.35918	T	1.0	0.01155	T	0.012	0.16265	B	0.009	0.14300	B	0.665040	0.10393	N	0.771090	1	0.19363	N	.	.	.	6.75	0.00493	T	5.71	0.00019	N	0.148	0.15046	-0.9847	0.33903	T	0.000	0.00011	T	10	0.002904147	0.00047	T	.	.	.	0.078	0.22779	.	.	0.0297737177859	0.01360	0.5168620670879079	0.51609	0.140911219291	0.15895	0.341239184141	0.16623	T	0.018819	0.15105	T	-0.615122	0.00118	T	-0.64142	0.09565	T	0.00344233807832698	0.00036	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.01668	B	.;.	.;.	-1.240388	0.00492	0.011	0.69367632553575986	0.08949	0.00043	0.00351	N	AEFDBI	0.024243	0.01470	N	-2.00030620287974	0.00211	0.009056648	-1.90259563111045	0.00484	0.02143707	0.96877145339347	0.29078	0.722319	0.85440	0	0.724815	0.89359	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.89	-2.26	0.06478	-0.378000	0.07503	.	.	-3.643000	0.00069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2645:0.0:0.3426:0.3929	2.599	0.04565	934	0.15400	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3254.98	40	chr6	31410618	.	T	G	3254.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.87;DP=3147;ExcessHet=0.0000;FS=2.593;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.27;MQRankSum=-5.754e+00;QD=17.98;ReadPosRankSum=1.59;SOR=0.928	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1478	20	0	1	0
chr6	31411341	31411341	G	A	exonic	MICA	.	nonsynonymous SNV	MICA:NM_000247:exon3:c.G595A:p.V199I	.	.	409	1063	48	2	0	52	0.0238751	.	.	2822873	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.26	T	0.006	B	0.006	B	0.016	N	1.000	N	1.245	L	5.62	T	-0.908	T	0.001	T	0.079	0.005	4.039	-1.24	-0.332	-0.014	4.903	0.015	.	0.0035	0.00199681	0.0054	0.0003	0.0052	0.0024	0.0016	0.0050	0.0266	0.0091	0.0028848	446	154602	rs41549718	0.0027	0.0027	0.0023	0.0030	0.0199	0.0026	0.0026	0.0170	0.0159	0.0004	0.0030	0.0003	0.0008	0.0016	0.0199	0.0023	0.0031	0.0090	0.0024	0.0024	0.0021	0.0028	0.0062	0.0022	0.0021	0.0045	0.0039	0.0005	0.0088	0.0038	0.0006	0.0006	0.0014	0.0102	0.0032	0.0052	0.0062	0.077	0.34095	T	0.218	0.26066	T	0.002	0.09854	B	0.003	0.08700	B	0.015888	0.01428	N	3.637770	1	0.08975	N	.	.	.	5.62	0.00808	T	-0.56	0.17003	N	0.083	0.06190	-0.9081	0.47085	T	0.001	0.00378	T	10	0.0042325854	0.00085	T	.	.	.	0.015	0.02232	.	.	0.0138822411134	0.00435	0.19776292023929762	0.19693	0.0854538752056	0.09655	0.25497430563	0.04310	T	.	.	.	-0.679157	0.00049	T	-0.7418	0.03815	T	0.00356876069672346	0.00038	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11366	B	.;.	.;.	-0.305598	0.02594	0.320	0.79294907434106843	0.12677	0.00046	0.00367	N	AEFDBI	0.031240	0.03297	N	-1.35461808824982	0.03077	0.1369007	-1.47429991340762	0.02557	0.1178012	0.942790596828477	0.27538	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	1.41	-1.24	0.08948	-0.370000	0.07578	.	.	-1.707000	0.00749	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7752:0.0:0.2248:0.0	4.903	0.13140	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3920.98	130	chr6	31411341	.	G	A	3920.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.913;DP=1904;ExcessHet=0.0000;FS=0.589;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.42;ReadPosRankSum=-1.158e+00;SOR=0.792	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,102,1478	20	0	1	0
chr6	31412383	31412384	TG	0	exonic;splicing	MICA;MICA	NM_000247:exon6:r.spl	.	.	.	.	653	335	270	56	208	590	0.363118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	5842.28	59	chr6	31412383	.	TG	T,*	5842.28	.	AC=6,7;AF=0.143,0.167;AN=42;BaseQRankSum=-1.010e+00;DP=1486;ExcessHet=1.3217;FS=1.215;InbreedingCoeff=-0.0027;MLEAC=6,7;MLEAF=0.143,0.167;MQ=60.00;MQRankSum=0.00;QD=9.16;ReadPosRankSum=-1.114e+00;SOR=0.790	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0:34:99:.:.:0,102,1315,102,1315,1315	10	0	5	0
chr6	31412384	31412384	G	0	exonic;splicing	MICA;MICA	NM_000247:exon6:c.949-1G>0	.	.	.	.	0	10	88	27	101	243	0.876543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	28073.94	58	chr6	31412384	.	G	GCT,*,GCTGCTGCTGCT	28073.94	.	AC=14,13,5;AF=0.333,0.310,0.119;AN=42;BaseQRankSum=1.31;DP=1521;ExcessHet=0.2067;FS=0.000;InbreedingCoeff=0.2125;MLEAC=14,13,5;MLEAF=0.333,0.310,0.119;MQ=60.00;MQRankSum=0.00;QD=21.78;ReadPosRankSum=-1.530e-01;SOR=0.813	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0,0:34:99:.:.:0,102,1315,102,1315,1315,102,1315,1315,1315	2	2	2	0
chr6	31505748	31505748	C	-	exonic	MICB	.	frameshift deletion	MICB:NM_001289160:exon2:c.106delC:p.Q37Rfs*21	.	.	413	1095	14	0	0	14	0.00635209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	.	0.0007	0.0001	0.0004	0	0	0.0008	0.0012	0.0012	0.0005045	78	154602	rs45459705	0.0005	0.0005	0.0004	0.0005	0.0026	0.0005	0.0005	0.0016	0.0013	5.974e-05	0.0008	0	0	0	0.0026	0.0005	0.0007	0.0010	0.0005	0.0006	0.0004	0.0007	0.0020	0.0004	0.0004	0.0015	0.0013	9.62e-05	0	0.0020	0	0	0	0.0034	0.0006	0.0014	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2418.94	53	chr6	31505747	.	GC	G	2418.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.332;DP=1395;ExcessHet=0.0000;FS=7.559;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.74;ReadPosRankSum=0.450;SOR=1.192	GT:AD:DP:GQ:PL	0/0:78,0:78:99:0,120,1800	20	0	1	0
chr6	31576785	31576785	C	T	exonic	TNF	.	nonsynonymous SNV	TNF:NM_000594:exon3:c.C251T:p.P84L,	.	.	0	1456	62	4	0	70	0.0234742	.	.	710405	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.29	T	0.007	B	0.003	B	0.084	N	1.000	N	0.95	L	-2.04	D	-0.929	T	0.211	T	0.037	1.661	11.51	0.019	0.135	-0.243	5.542	0.188	0.0119564785465	0.0019	0.000599042	0.0024	0.0003	0.0023	0.0001	0.0003	0.0028	0.0034	0.0041	0.0021345	330	154602	rs4645843	0.0018	0.0018	0.0017	0.0020	0.0184	0.0018	0.0018	0.0155	0.0145	0.0009	0.0029	0.0106	0	0.0002	0.0184	0.0014	0.0028	0.0045	0.0016	0.0016	0.0016	0.0016	0.0023	0.0015	0.0014	0.0017	0.0016	0.0003	0	0.0023	0.0109	0.0004	0.0002	0.0136	0.0020	0.0033	0.0021	0.145	0.25154	T	0.296	0.20615	T	0.007	0.14184	B	0.003	0.08700	B	0.084445	0.02389	N	1.798360	1	0.08975	N	1.25	0.31749	L	-2.04	0.85703	D	-0.66	0.19085	N	0.056	0.02759	-0.9293	0.44241	T	0.211	0.57067	T	10	0.0046066046	0.00096	T	0.011956	0.30096	T	0.188	0.46444	.	.	0.967945040658	0.96760	0.4098653570155833	0.40902	0.568028422092	0.53036	0.283045470715	0.07921	T	0.100786	0.40693	T	-0.488641	0.00661	T	-0.474409	0.25042	T	0.0327934610997307	0.02437	T	.	.	.	0.11627148	0.27428	0.08679749	0.20134	0.22171228	0.44754	0.104951486	0.25217	-3.833	0.21298	T	.	.	0.082	0.08754	B	.	.	1.914172	0.24313	16.35	0.91227581667590563	0.20484	0.04532	0.10164	N	AEFDBCI	0.061633	0.11797	N	-0.847107772778044	0.12121	0.588936	-0.844081313660175	0.13430	0.696636	0.999991238544582	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.62	0.019	0.13440	-0.178000	0.09775	.	.	0.592000	0.32167	0.000000	0.06391	0.000000	0.08366	0.982000	0.59238	0.535:0.364:0.0:0.101	5.542	0.16328	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2522.98	33	chr6	31576785	.	C	T	2522.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.567;DP=890;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=-7.500e-01;SOR=0.712	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1328	20	0	1	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.985	D	0.637	P	0.000	D	0.995	D	1.495	L	4.53	T	-0.837	T	0.008	T	0.68	1.237	10.02	5.06	2.122	3.154	13.917	0.142	0.0178076993305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.022e-07	6.841e-07	0	1.42e-06	9.161e-07	0	0	.	.	0	0	0	0	0	0	9.161e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.16	0.31427	T	0.985	0.61118	D	0.637	0.51992	P	0.000005	0.62929	D	0.000000	0.995498	0.42717	D	2.105	0.58435	M	4.53	0.01980	T	-4.28	0.76334	D	0.586	0.61680	-0.8368	0.52858	T	0.008	0.02720	T	10	0.43278176	0.57599	T	0.017808	0.39652	T	0.142	0.37995	0.195	0.10705	0.128874641272	0.12493	0.5487022548939708	0.54796	0.180877748463	0.20346	0.868078529835	0.92292	D	0.045246	0.27062	T	-0.000470291	0.51590	T	-0.238452	0.50949	T	0.941546738147736	0.61490	D	0.757724	0.38135	T	0.6803623	0.76989	0.726591	0.83849	0.6803623	0.76990	0.726591	0.83850	-10.319	0.75799	D	.	.	0.987	0.96107	P	.;.	.;.	3.901954	0.56841	23.8	0.93194787374129984	0.22862	0.76208	0.37359	D	AEFDBCI	0.190166	0.31740	N	0.457200889062192	0.64613	4.719805	0.475887910268732	0.66395	4.94659	0.999999757296763	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.242000	0.51082	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.917	0.63410	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	9616.67	116	chr6	31625601	.	T	C	9616.67	.	AC=19;AF=0.500;AN=38;BaseQRankSum=-3.022e+00;DP=2814;ExcessHet=36.0830;FS=243.392;InbreedingCoeff=-0.8806;MLEAC=20;MLEAF=0.526;MQ=59.99;MQRankSum=0.00;QD=3.79;ReadPosRankSum=1.23;SOR=12.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,18:141:99:0|1:31625601_T_C:99,0,4364:31625601	0	0	19	2
chr6	31625602	31625602	G	A	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.817	P	0.292	B	0.000	D	0.999	D	1.295	L	4.62	T	-0.628	T	0.004	T	0.668	2.651	14.83	5.06	2.628	4.365	17.348	0.179	0.0251130273271	7.7e-05	.	1.784e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs145609055	3.51e-06	4.788e-06	5.554e-06	1.42e-06	0.0001	1.03e-06	7.5e-07	4.163e-05	2.527e-05	0.0001	0	0	0	0	0	9.159e-07	0	0	6.577e-06	6.567e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999301	0.46608	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.19789547	0.35739	T	0.025113	0.48090	D	0.179	0.44899	0.192	0.10304	0.19168177325	0.18762	0.40434125802200627	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.199437	0.20885	T	-0.287586	0.46022	T	0.45686399936676	0.31050	T	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.189641	0.63134	24.5	0.9887765022119781	0.47771	0.95609	0.65407	D	AEFDBCI	0.573860	0.57688	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	12029.36	116	chr6	31625602	.	G	A,C	12029.36	.	AC=18,1;AF=0.474,0.026;AN=38;BaseQRankSum=-3.662e+00;DP=2814;ExcessHet=36.0830;FS=285.280;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.500,0.026;MQ=59.99;MQRankSum=0.00;QD=4.75;ReadPosRankSum=1.13;SOR=13.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,18,0:141:99:0|1:31625601_T_C:99,0,4364,468,4417,4885:31625601	0	0	18	2
chr6	31625602	31625602	G	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750C:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.817	P	0.292	B	0.000	D	0.999	D	1.295	L	4.62	T	-0.628	T	0.004	T	0.668	2.530	14.42	5.06	2.628	4.365	17.348	0.179	0.0240778972107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999345	0.46733	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.2299856	0.39939	T	0.024078	0.47063	T	0.179	0.44899	0.192	0.10304	0.187035705434	0.18338	0.40434127179304075	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.0346369	0.46741	T	-0.28753	0.46029	T	0.797656714916229	0.46194	D	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.164074	0.62562	24.5	0.98851704410504837	0.47305	0.96934	0.71741	D	AEFDBCI	0.644900	0.62099	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	12029.36	116	chr6	31625602	.	G	A,C	12029.36	.	AC=18,1;AF=0.474,0.026;AN=38;BaseQRankSum=-3.662e+00;DP=2814;ExcessHet=36.0830;FS=285.280;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.500,0.026;MQ=59.99;MQRankSum=0.00;QD=4.75;ReadPosRankSum=1.13;SOR=13.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,18,0:141:99:0|1:31625601_T_C:99,0,4364,468,4417,4885:31625601	0	0	18	2
chr6	31635991	31635991	C	G	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon25:c.C5566G:p.Q1856E	.	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.043	B	0.016	B	0.002	N	0.570	D	0.895	L	4.74	T	-0.873	T	0.122	T	0.278	2.011	12.68	5.24	2.732	3.855	15.845	0.072	0.00730667928553	.	.	1.662e-05	0	0	0	0	3.019e-05	0	0	1.94e-05	3	154602	rs778651046	2.259e-05	2.257e-05	1.362e-05	3.164e-05	0.0003	1.611e-05	1.417e-05	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	2.61e-05	3.314e-05	0	2.628e-05	2.625e-05	2.571e-05	2.687e-05	5.882e-05	8.14e-06	5.14e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.882e-05	0	0	0.011	0.55530	D	0.44	0.13328	T	0.043	0.21573	B	0.016	0.17743	B	0.002169	0.37095	N	0.123434	0.570468	0.32289	D	0.805	0.20218	L	4.74	0.01604	T	-0.81	0.22294	N	0.34	0.38129	-0.8730	0.50302	T	0.122	0.42420	T	10	0.11939314	0.22593	T	0.007307	0.19388	T	0.072	0.21020	.	.	0.0934897674506	0.08844	0.2711682902211361	0.27029	0.168893101428	0.19044	0.448738276958	0.31772	T	0.021095	0.16491	T	-0.191096	0.22097	T	-0.496786	0.22681	T	0.212953939703503	0.21107	T	0.837116	0.50934	T	0.22830562	0.45547	0.16621943	0.38412	0.22830562	0.45547	0.16621943	0.38411	-3.806	0.20894	T	.	.	0.167	0.40473	B	.;.	.;.	3.510703	0.49159	22.7	0.96445751905559396	0.29844	0.91568	0.53802	D	AEFDBCI	0.622412	0.60674	D	0.310284096703276	0.56675	3.832657	0.39633674338623	0.61339	4.332568	0.999992259434611	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.24	5.24	0.72863	3.890000	0.55932	.	.	0.592000	0.32167	1.000000	0.71638	1.000000	0.68203	0.865000	0.41091	0.0:1.0:0.0:0.0	15.845	0.78661	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2073.98	85	chr6	31635991	.	C	G	2073.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.371;DP=1675;ExcessHet=0.0000;FS=7.633;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.92;ReadPosRankSum=0.136;SOR=0.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:78,0:78:99:.:.:0,120,1800	20	0	1	0
chr6	31637239	31637239	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon30:c.T6248C:p.F2083S	.	.	411	1024	80	7	0	94	0.0438842	.	.	3221664	PRRC2A-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.99	D	0.676	P	0.038	N	0.994	D	0.55	N	4.59	T	-0.646	T	0.006	T	0.53	1.570	11.20	5.63	2.271	2.456	13.654	0.107	.	0.0060	0.00838658	0.0105	0.0066	0.0089	0.0014	0.0014	0.0098	0.0149	0.0250	0.0100128	1548	154602	rs35595439	0.0099	0.0099	0.0093	0.0105	0.0980	0.0098	0.0097	0.0913	0.0886	0.0064	0.0100	0.0241	0.0009	0.0009	0.0980	0.0087	0.0136	0.0245	0.0085	0.0085	0.0084	0.0086	0.0176	0.0081	0.0079	0.0146	0.0135	0.0064	0	0.0119	0.0236	0.0023	0.0007	0.0782	0.0087	0.0203	0.0176	0.009	0.57480	D	0.037	0.51737	D	0.99	0.63424	D	0.676	0.53321	P	0.037848	0.24353	N	0.374635	0.994293	0.42229	D	0.805	0.20218	L	4.59	0.01885	T	-0.02	0.07299	N	0.684	0.69037	-0.6465	0.62866	T	0.006	0.01907	T	10	0.0058432817	0.00130	T	.	.	.	0.107	0.30369	.	.	.	.	0.36497003574382164	0.36411	0.278578728581	0.30341	0.594195008278	0.52086	T	0.006049	0.05488	T	-0.447984	0.01161	T	-0.39735	0.33694	T	0.0174964733769842	0.00485	T	0.727827	0.34232	T	0.15795542	0.35562	0.16183853	0.37623	0.15795542	0.35562	0.16183853	0.37622	-1.277	0.01365	T	.	.	0.381	0.58464	A	.;.	.;.	3.781721	0.54376	23.5	0.98768474912641135	0.45924	0.93029	0.57147	D	AEFDBHCI	0.674946	0.64050	D	0.358168924707542	0.59173	4.094471	0.416011924713983	0.62563	4.473676	0.99999993239348	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.63	5.63	0.86108	2.432000	0.44442	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.531000	0.29730	0.0:0.0:0.0:1.0	13.654	0.61799	884	0.28482	.;.	STK19|STK19B|LY6G5B|STK19B|TNXA|STK19B|STK19B|STK19|STK19B|LY6G5B|LY6G5C|STK19B|STK19B|LY6G5B|STK19B|POU5F1|STK19B|MPIG6B|STK19|STK19B|POU5F1|STK19B|LY6G5B|STK19B|LY6G5B|LY6G5B|STK19|LST1|PRRC2A|LY6G5B|STK19|STK19B|STK19|STK19B|STK19B|STK19B|NELFE|LY6G5B|LY6G5C|STK19|STK19B|C4B|CYP21A2|AIF1|LY6G5C|STK19B	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood	STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|MSH5	Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Nerve_Tibial|Nerve_Tibial|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis	rs115912333	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2478.11	128	chr6	31637239	.	T	C	2478.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.900e-02;DP=1376;ExcessHet=0.1072;FS=0.512;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.09;ReadPosRankSum=-1.980e-01;SOR=0.648	GT:AD:DP:GQ:PL	0/0:66,0:66:99:0,120,1800	19	0	2	0
chr6	31637269	31637269	C	G	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon30:c.C6278G:p.T2093R	.	.	409	1100	12	0	1	13	0.00542495	.	.	2354438	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.089	B	0.008	B	0.504	N	0.990	N	0	N	4.59	T	-0.873	T	0.002	T	0.245	1.537	11.09	5.04	1.473	2.345	13.520	0.085	0.00997595296051	0.0011	.	0.0006	0.0001	0.0004	0	0.0006	0.0007	0.0011	0.0008	0.0004851	75	154602	rs115306790	0.0005	0.0005	0.0005	0.0006	0.0023	0.0005	0.0005	0.0013	0.0011	2.988e-05	0.0004	0.0015	5.038e-05	0.0006	0.0023	0.0005	0.0006	0.0007	0.0005	0.0005	0.0004	0.0006	0.0008	0.0004	0.0004	0.0006	0.0006	4.812e-05	0	0.0001	0.0009	0.0004	0.0016	0.0034	0.0008	0	0	0.003	0.68238	D	0.025	0.56192	D	0.089	0.25085	B	0.008	0.13708	B	0.504316	0.11914	N	0.761042	0.989783	0.24254	N	0	0.06538	N	4.59	0.01885	T	-1.3	0.32590	N	0.367	0.41459	-0.8731	0.50295	T	0.002	0.00707	T	10	0.032936364	0.01457	T	0.009976	0.25968	T	0.085	0.24743	.	.	0.0675242888579	0.06100	0.2558363365434808	0.25497	0.178833483932	0.20123	0.486222445965	0.36915	T	0.008027	0.07391	T	-0.46433	0.00923	T	-0.53011	0.19275	T	0.0129608555596332	0.00224	T	0.738226	0.35599	T	0.17241795	0.37931	0.22701688	0.47698	0.17241795	0.37931	0.22701688	0.47697	-3.935	0.22828	T	.	.	0.269	0.50278	B	.;.	.;.	2.848456	0.37596	20.5	0.89406778148803701	0.18770	0.91253	0.53161	D	AEFDBHCI	0.528821	0.55019	D	-0.227630049196985	0.32004	1.800342	-0.0244943684078109	0.38613	2.277347	0.999997246821151	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.93	5.04	0.67293	2.498000	0.45023	.	.	0.576000	0.29215	0.882000	0.31029	0.999000	0.35428	0.436000	0.27583	0.1565:0.8435:0.0:0.0	13.520	0.61016	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2000.98	94	chr6	31637269	.	C	G	2000.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.32;DP=1417;ExcessHet=0.0000;FS=5.307;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.50;ReadPosRankSum=-1.167e+00;SOR=0.366	GT:AD:DP:GQ:PL	0/1:65,73:138:99:2015,0,1629	20	0	1	0
chr6	31640686	31640686	T	C	exonic	BAG6	.	nonsynonymous SNV	BAG6:NM_001098534:exon21:c.A2845G:p.M949V	.	.	0	225	0	1	0	2	0.00442478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.902	P	0.517	P	0.077	N	0.999	N	0.69	N	1.57	T	-1.093	T	0.039	T	0.525	0.638	7.427	5.26	2.222	2.284	11.537	0.137	0.00913034085004	0.0002	0.00139776	0.0005	0.0006	0.0008	0.0013	0.0002	0.0003	0	0.0006	0.0004463	69	154602	rs150422210	0.0003	0.0003	0.0003	0.0003	0.0016	0.0003	0.0003	0.0013	0.0012	0.0006	0.0008	0.0007	0.0016	9.558e-05	0.0003	0.0002	0.0006	0.0006	0.0005	0.0005	0.0006	0.0005	0.0048	0.0004	0.0004	0.0034	0.0029	0.0003	0	0.0014	0.0003	0.0048	0	0	0.0002	0.0028	0.0002	0.293	0.16628	T	0.135	0.39040	T	0.902	0.49745	P	0.517	0.48105	P	0.076917	0.21135	N	0.564841	0.999379	0.21979	N	1.245	0.31408	L	1.57	0.43279	T	-0.73	0.36189	N	0.377	0.45709	-1.0932	0.05020	T	0.039	0.16677	T	10	0.008490026	0.00192	T	0.00913	0.24012	T	0.137	0.36984	.	.	0.547570583021	0.54413	0.5611048341205912	0.56037	0.389099320883	0.40161	0.611800551414	0.54571	T	0.108229	0.42109	T	-0.423034	0.01636	T	-0.37962	0.35766	T	0.0177761884744083	0.00506	T	.	.	.	0.19228052	0.40892	0.24716185	0.50240	0.19228052	0.40891	0.24716185	0.50239	-4.335	0.28664	T	.	.	0.072	0.12371	B	.;.;.;.;.	.;.;.;.;.	3.492200	0.48818	22.7	0.88291342094122127	0.17862	0.78982	0.39054	D	AEFBI	0.166387	0.29296	N	0.0913988499678211	0.46062	2.852482	0.202568729002262	0.49989	3.195793	0.980450315052652	0.30138	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.26	5.26	0.73479	3.733000	0.54753	.	.	0.653000	0.53440	0.996000	0.39380	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	11.537	0.49896	889	0.27310	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1701.98	34	chr6	31640686	.	T	C	1701.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.388;DP=913;ExcessHet=0.0000;FS=0.577;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.01;ReadPosRankSum=-5.420e-01;SOR=0.782	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1163	20	0	1	0
chr6	31642332	31642332	C	A	exonic	BAG6	.	nonsynonymous SNV	BAG6:NM_001098534:exon15:c.G2007T:p.M669I	.	.	439	1074	9	0	0	9	0.00417246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.0	B	0.002	B	0.844	N	0.963	N	0	N	1.58	T	-1.007	T	0.013	T	0.23	1.477	10.89	-7.47	-1.413	-1.907	2.266	0.100	0.00619318597971	.	0.000798722	0.0012	0	0	0	0	0.0020	0.0055	0.0007	0.0005563	86	154602	rs200073459	0.0012	0.0010	0.0012	0.0013	0.0098	0.0012	0.0012	0.0071	0.0061	0.0002	0.0015	0.0019	0	0.0001	0.0098	0.0013	0.0016	0.0008	0.0012	0.0011	0.0012	0.0012	0.0024	0.0010	0.0010	0.0017	0.0014	0.0002	0	0.0024	0.0006	0	0	0.0246	0.0016	0.0037	0.0003	0.339	0.23095	T	0.312	0.25907	T	0.0	0.02946	B	0.001	0.04355	B	0.844225	0.09011	N	0.933958	0.96287	0.38315	D	0	0.06538	N	1.58	0.41392	T	-0.11	0.08653	N	0.128	0.19055	-1.0072	0.27789	T	0.013	0.05225	T	10	0.00830403	0.00188	T	0.006193	0.16229	T	0.100	0.28662	0.138	0.04187	0.385559283137	0.38164	0.18721864571625946	0.18639	1.03916753808	0.75728	0.431131720543	0.29363	T	0.075354	0.35156	T	-0.552697	0.00281	T	-0.596766	0.13083	T	0.00462383412583578	0.00049	T	.	.	.	0.06880875	0.15022	0.11778844	0.28435	0.06880875	0.15021	0.11778844	0.28434	-4.16	0.26301	T	.	.	0.133	0.32969	B	.;.;.;.;.	.;.;.;.;.	-0.254350	0.02825	0.392	0.88478079957050781	0.18008	0.08068	0.14041	N	AEFBI	0.172226	0.29925	N	-1.2251491229347	0.04638	0.2097326	-1.24542024499014	0.05198	0.2471481	0.999999782173703	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.93	-7.47	0.01221	-1.979000	0.01583	.	.	0.592000	0.32167	0.000000	0.06391	0.000000	0.08366	0.999000	0.91618	0.2493:0.2064:0.0827:0.4615	2.266	0.03829	889	0.27310	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	763.98	31	chr6	31642332	.	C	A	763.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.030e-01;DP=785;ExcessHet=0.0000;FS=1.372;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.19;ReadPosRankSum=-4.000e-01;SOR=1.085	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1567	20	0	1	0
chr6	31656057	31656057	A	G	exonic	APOM	.	nonsynonymous SNV	APOM:NM_019101:exon1:c.A91G:p.T31A,	.	.	422	1070	29	1	0	31	0.0142791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.0	B	0.001	B	0.068	N	1.000	N	1.78	L	.	.	-0.998	T	0.024	T	0.041	0.524	6.838	-5.72	-0.665	-0.473	2.470	0.051	.	0.0039	0.00579073	0.0125	0.0013	0.0092	0.0083	0.0033	0.0155	0.0140	0.0137	0.0045536	704	154602	rs150345955	0.0044	0.0044	0.0040	0.0048	0.0256	0.0043	0.0043	0.0222	0.0209	0.0009	0.0047	0.0399	0.0009	0.0007	0.0256	0.0031	0.0072	0.0123	0.0046	0.0046	0.0041	0.0051	0.0133	0.0043	0.0042	0.0107	0.0097	0.0008	0	0.0067	0.0363	0.0023	0.0005	0.0238	0.0048	0.0081	0.0133	0.554	0.06502	T	0.722	0.05309	T	0.0	0.02946	B	0.001	0.04355	B	0.067749	0.21719	N	0.431594	1	0.20103	N	0.28	0.10031	N	.	.	.	-0.45	0.14782	N	0.037	0.01135	-0.9981	0.30451	T	0.024	0.10419	T	9	0.0020104945	0.00028	T	.	.	.	0.051	0.14325	.	.	0.0551355673512	0.04727	0.5968379005749489	0.59614	0.237888243689	0.26336	0.334143459797	0.15558	T	0.107038	0.41890	T	-0.691459	0.00041	T	-0.755622	0.03272	T	0.000514297947003674	0.00004	T	.	.	.	0.1760022	0.38489	0.0974176	0.23188	0.1760022	0.38489	0.0974176	0.23187	-3.217	0.12689	T	.	.	0.069	0.03060	B	.	.	0.009654	0.04351	1.112	0.72547327394282368	0.10012	0.10028	0.15645	N	AEFGBHCI	0.447920	0.50337	N	-0.909602298151685	0.10617	0.5081887	-0.938578513546603	0.11190	0.5684995	0.999999973862145	0.74766	0.679555	0.55442	0	0.379588	0.06130	0	0.600882	0.32295	2	0.727631	0.95156	0	.	.	5.16	-5.72	0.02211	-0.473000	0.06694	.	.	0.747000	0.86732	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.3636:0.3672:0.1584:0.1107	2.470	0.04283	889	0.27310	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	537.98	34	chr6	31656057	.	A	G	537.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=737;ExcessHet=0.0000;FS=2.554;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=-3.560e-01;SOR=1.112	GT:AD:DP:GQ:PL	0/1:28,20:48:99:552,0,728	20	0	1	0
chr6	31679209	31679209	G	A	exonic	LY6G5C	.	nonsynonymous SNV	LY6G5C:NM_025262:exon2:c.C181T:p.R61C,	.	.	437	1018	66	1	0	68	0.0323194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.894	P	0.312	B	0.727	N	0.517	N	0.695	N	-2.24	D	-0.885	T	0.234	T	0.392	2.910	15.70	0.459	-0.037	0.580	4.467	0.360	.	0.0036	0.0227636	0.0169	0.0046	0.0068	0.0109	0	0.0020	0.0217	0.0987	0.0145664	2252	154602	rs145921744	0.0081	0.0081	0.0054	0.0107	0.0926	0.0079	0.0079	0.0909	0.0902	0.0063	0.0044	3.826e-05	0.0079	7.643e-05	0.0097	0.0019	0.0157	0.0926	0.0065	0.0065	0.0053	0.0076	0.0885	0.0061	0.0060	0.0816	0.0789	0.0051	0	0.0047	0	0.0168	0.0002	0.0034	0.0022	0.0147	0.0885	0.01	0.56456	D	0.02	0.58613	D	0.894	0.49185	P	0.312	0.41466	B	0.727062	0.09886	N	0.818192	0.516679	0.31863	D	1.445	0.36358	L	-2.24	0.87194	D	-2.76	0.58569	D	0.084	0.06059	-0.8846	0.49390	T	0.234	0.60063	T	10	0.0023189783	0.00034	T	.	.	.	0.360	0.68052	.	.	.	.	0.5892804808007955	0.58858	1.21905781881	0.81036	0.264205992222	0.05402	T	0.10245	0.41018	T	-0.347274	0.04900	T	-0.195046	0.55114	T	0.0382722174144337	0.03381	T	0.676832	0.28555	T	0.06356132	0.13397	0.04214743	0.04952	0.06356132	0.13397	0.04214743	0.04952	-9.13	0.68530	D	.	.	0.113	0.22428	B	.	.	3.510531	0.49159	22.7	0.99587674766532908	0.73395	0.44099	0.27244	N	AEFBI	0.135247	0.25552	N	-0.330590158614823	0.27992	1.540278	-0.33022311357452	0.27128	1.503155	0.981238292143273	0.30236	0.615465	0.37627	0	0.588066	0.40923	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	3.46	0.459	0.15890	0.600000	0.23803	.	.	-0.105000	0.15698	0.999000	0.42656	0.955000	0.29136	0.971000	0.54645	0.1148:0.0:0.4773:0.4079	4.467	0.11114	895	0.25842	.	.	.	.	.	rs145921744	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3832.11	36	chr6	31679209	.	G	A	3832.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.37;DP=971;ExcessHet=0.1072;FS=4.765;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.49;ReadPosRankSum=0.609;SOR=0.982	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	19	0	2	0
chr6	31710176	31710176	G	A	exonic	LY6G6F;LY6G6F-LY6G6D	.	nonsynonymous SNV	LY6G6F:NM_001003693:exon4:c.G797A:p.G266D	.	.	423	1017	75	7	0	89	0.0419218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.0	B	0.001	B	0.941	N	1.000	N	-0.55	N	2.52	T	-0.911	T	0.005	T	0.078	0.891	8.620	-0.08	-0.177	0.191	5.858	0.024	.	0.0060	0.00838658	0.0106	0.0071	0.0094	0.0014	0.0014	0.0098	0.0139	0.0253	0.0101422	1568	154602	rs61740977	0.0100	0.0100	0.0094	0.0106	0.0983	0.0099	0.0098	0.0916	0.0889	0.0066	0.0103	0.0241	0.0009	0.0009	0.0983	0.0087	0.0136	0.0245	0.0086	0.0086	0.0085	0.0087	0.0176	0.0082	0.0080	0.0146	0.0135	0.0066	0	0.0119	0.0236	0.0023	0.0007	0.0748	0.0088	0.0213	0.0176	0.792	0.18061	T	0.67	0.06305	T	0.0	0.02946	B	0.001	0.04355	B	0.940953	0.08354	N	0.971401	1	0.08975	N	1.385	0.34509	L	2.36	0.16089	T	-0.77	0.26200	N	0.134	0.13055	-0.9108	0.46756	T	0.005	0.01725	T	10	0.0036507547	0.00067	T	.	.	.	0.024	0.04979	.	.	.	.	0.17638048354673985	0.17557	0.0973658497453	0.21457	0.23227712512	0.02141	T	0.002959	0.02360	T	-0.691932	0.00041	T	-0.747765	0.03574	T	0.00386979524127015	0.00041	T	0.379462	0.09138	T	0.04546819	0.07448	0.08063304	0.18256	0.04546819	0.07448	0.08063304	0.18256	-4.892	0.35645	T	.	.	0.107	0.19958	B	.;.	.;.	0.522969	0.08917	5.698	0.70296732587708188	0.09250	0.01871	0.05765	N	AEFGBI	0.059164	0.11153	N	-1.55622397157654	0.01499	0.06542969	-1.50119969325627	0.02335	0.1072508	0.999911762167869	0.45857	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.25	-0.08	0.13042	0.206000	0.17174	.	.	-0.179000	0.10443	0.009000	0.18154	0.010000	0.20010	0.146000	0.20164	0.353:0.0:0.5128:0.1342	5.858	0.17980	889	0.27310	.;.	STK19|STK19B|LY6G5B|STK19B|TNXA|STK19B|STK19B|STK19|STK19B|LY6G5B|LY6G5C|STK19B|STK19B|LY6G5B|STK19B|POU5F1|STK19B|MPIG6B|STK19|STK19B|POU5F1|STK19B|LY6G5B|STK19B|LY6G5B|LY6G5B|STK19|LST1|PRRC2A|LY6G5B|STK19|STK19B|STK19|STK19B|STK19B|STK19B|NELFE|LY6G5B|LY6G5C|STK19|STK19B|C4B|CYP21A2|AIF1|LY6G5C|STK19B	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood	STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|MSH5	Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Nerve_Tibial|Nerve_Tibial|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis	rs116179487	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1911.11	72	chr6	31710176	.	G	A	1911.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.21;DP=818;ExcessHet=0.1072;FS=3.286;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.54;ReadPosRankSum=-1.580e-01;SOR=0.458	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1156	19	0	2	0
chr6	31719250	31719250	G	C	exonic	LY6G6C	.	nonsynonymous SNV	LY6G6C:NM_025261:exon3:c.C224G:p.A75G,	.	.	415	1077	29	1	0	31	0.0141876	.	.	710408	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.48	T	0.0	B	0.002	B	0.160	N	1.000	N	0	N	-2.74	D	-0.872	T	0.183	T	0.144	0.505	6.739	0.842	0.135	0.140	1.705	0.087	.	0.0039	0.00898562	0.0069	0.0006	0.0039	0.0157	0.0005	0.0068	0.0066	0.0112	0.0064876	1003	154602	rs117894946	0.0057	0.0057	0.0052	0.0061	0.0443	0.0056	0.0055	0.0426	0.0419	0.0010	0.0048	0.0398	0.0443	0.0007	0.0258	0.0032	0.0073	0.0122	0.0051	0.0051	0.0046	0.0055	0.0152	0.0048	0.0046	0.0125	0.0115	0.0008	0	0.0069	0.0363	0.0152	0.0005	0.0238	0.0049	0.0080	0.0134	0.397	0.11191	T	0.477	0.16717	T	0.0	0.02946	B	0.002	0.06944	B	0.160136	0.17689	N	0.473300	1	0.08975	N	0.46	0.12951	N	-2.74	0.90735	D	-1.33	0.33197	N	0.086	0.06322	-0.8717	0.50401	T	0.183	0.53118	T	10	0.0016444623	0.00020	T	.	.	.	0.087	0.25287	.	.	0.0986583533028	0.09354	0.39497276819247984	0.39412	0.350227071823	0.36867	0.352285891771	0.18258	T	0.026541	0.19622	T	-0.414327	0.01861	T	-0.356897	0.38410	T	0.00149840095944933	0.00015	T	.	.	.	0.033119746	0.03467	0.05336692	0.08975	0.033119746	0.03467	0.05336692	0.08975	-3.533	0.16897	T	.	.	0.098	0.23077	B	.;.	.;.	1.056704	0.14384	10.96	0.90474642300220276	0.19732	0.01775	0.05566	N	AEFBI	0.071334	0.14196	N	-1.02058554680631	0.08177	0.3825018	-0.966148112167591	0.10551	0.5321079	0.999613741785482	0.40981	0.516011	0.20929	0	0.610034	0.51514	0	0.527494	0.11647	0	0.586402	0.36253	0	.	.	5.03	0.842	0.18064	0.154000	0.16160	.	.	0.604000	0.46097	0.002000	0.15269	0.000000	0.08366	0.829000	0.39076	0.1919:0.1604:0.4829:0.1648	1.705	0.02706	889	0.27310	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1640.98	34	chr6	31719250	.	G	C	1640.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.400e-01;DP=914;ExcessHet=0.0000;FS=4.831;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.80;ReadPosRankSum=1.32;SOR=0.412	GT:AD:DP:GQ:PL	0/1:82,70:152:99:1655,0,2062	20	0	1	0
chr6	31764524	31764524	G	A	exonic	SAPCD1	.	nonsynonymous SNV	SAPCD1:NM_001039651:exon5:c.G530A:p.R177H,	.	.	429	1083	10	0	0	10	0.00459559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.0	B	0.001	B	.	.	1.000	N	.	.	1.51	T	-1.008	T	0.011	T	0.064	2.335	13.76	-9.33	-1.640	-1.979	2.682	0.011	0.00477405394649	0.0006	0.00159744	0.0018	0.0002	0.0014	0	0.0032	0.0012	0.0058	0.0058	0.0016235	251	154602	rs28399994	0.0012	0.0012	0.0010	0.0014	0.0053	0.0011	0.0011	0.0049	0.0047	2.993e-05	0.0009	0.0010	0	0.0027	0.0016	0.0009	0.0016	0.0053	0.0010	0.0010	0.0008	0.0012	0.0056	0.0009	0.0008	0.0039	0.0034	0.0002	0	0.0006	0.0009	0.0004	0.0022	0	0.0011	0.0005	0.0056	0.466	0.10278	T	0.099	0.43159	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.51	0.31205	T	-0.85	0.23156	N	0.069	0.08227	-1.0075	0.27696	T	0.011	0.03949	T	8	0.0028363168	0.00045	T	0.004774	0.11910	T	0.011	0.01250	.	.	0.0138822411134	0.00435	0.08503521515161923	0.08437	0.257723927527	0.28330	.	.	.	0.001788	0.01205	T	-0.703643	0.00035	T	-0.781453	0.02410	T	0.00161617295656631	0.00016	T	.	.	.	0.014795837	0.00108	0.035833467	0.02910	0.014795837	0.00108	0.035833467	0.02909	-4.667	0.33693	T	.	.	0.092	0.24294	B	.;.	.;.	-0.716935	0.01282	0.068	0.7802888846739725	0.12125	0.01234	0.04361	N	AEFDBI	0.104442	0.20897	N	-1.56153533053961	0.01468	0.06408637	-1.6843486542789	0.01208	0.05439283	0.999999668571799	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	5.15	-9.33	0.00542	-1.842000	0.01775	.	.	-0.820000	0.02968	0.000000	0.06391	0.000000	0.08366	0.419000	0.27206	0.2838:0.0833:0.1218:0.511	2.682	0.04781	895	0.25842	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1083.98	36	chr6	31764524	.	G	A	1083.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.090;DP=839;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=1.28;SOR=0.606	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1279	20	0	1	0
chr6	31765767	31765767	G	A	exonic	VWA7	.	nonsynonymous SNV	VWA7:NM_025258:exon17:c.C2503T:p.R835W,	.	.	428	1041	52	1	0	54	0.0252809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.688	P	0.036	B	0.372	N	1.000	N	0.345	N	2.66	T	-0.941	T	0.007	T	0.141	2.500	14.32	1.82	0.237	0.316	10.977	0.060	.	0.0015	0.0209665	0.0146	0.0027	0.0019	0.0123	0	0.0010	0.0268	0.1120	0.0121344	1876	154602	rs28399997	0.0068	0.0069	0.0044	0.0092	0.0853	0.0067	0.0066	0.0836	0.0830	0.0019	0.0018	0	0.0075	7.829e-05	0.0075	0.0012	0.0156	0.0853	0.0046	0.0046	0.0039	0.0054	0.0820	0.0043	0.0042	0.0753	0.0727	0.0020	0	0.0025	0	0.0151	9.414e-05	0	0.0012	0.0128	0.0820	0.023	0.48186	D	0.021	0.58089	D	0.688	0.41582	P	0.036	0.22909	B	0.372373	0.04370	N	1.482110	1	0.08975	N	0	0.06538	N	2.66	0.12575	T	-0.7	0.19933	N	0.058	0.02964	-0.9414	0.42394	T	0.007	0.02518	T	10	0.0016879141	0.00021	T	.	.	.	0.108	0.30607	.	.	.	.	0.32778010401152163	0.32691	0.679698092416	0.59945	0.351189315319	0.18097	T	0.001842	0.01261	T	-0.654375	0.00068	T	-0.641561	0.09556	T	0.0175965136085105	0.00492	T	.	.	.	0.13188592	0.30727	0.0849881	0.19592	0.13188592	0.30727	0.0849881	0.19592	-5.029	0.37153	T	.	.	0.070	0.03443	B	.	.	3.391797	0.46967	22.4	0.98701022032391184	0.44910	0.33231	0.24778	N	AEFDBCI	0.294634	0.40496	N	-0.705706012100094	0.15861	0.8031031	-0.717490922813437	0.16525	0.8746093	0.999998793596396	0.74766	0.65757	0.49021	0	0.550933	0.16991	0	0.619478	0.44681	0	0.613276	0.41899	0	.	.	4.87	1.82	0.24209	0.359000	0.19970	.	.	0.672000	0.70159	0.982000	0.35529	0.971000	0.29754	0.021000	0.11733	0.0:0.0:0.4751:0.5249	10.977	0.46687	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2201.11	38	chr6	31765767	.	G	A	2201.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.53;DP=888;ExcessHet=0.1072;FS=0.500;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=0.513;SOR=0.734	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	19	0	2	0
chr6	31766524	31766524	G	A	exonic	VWA7	.	nonsynonymous SNV	VWA7:NM_025258:exon14:c.C2123T:p.A708V,	.	.	432	1089	1	0	0	1	0.000458926	.	.	3338692	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.29	T	0.001	B	0.001	B	0.774	N	1.000	N	0	N	2.71	T	-0.985	T	0.003	T	0.044	-0.292	2.606	-10.2	-3.884	-3.107	0.972	0.019	0.00195016333686	.	.	5.165e-05	0	0	0.0003	0	3.73e-05	0	7.076e-05	3.88e-05	6	154602	rs758285570	1.372e-05	1.779e-05	9.552e-06	1.795e-05	0.0002	8.96e-06	7.29e-06	8.226e-05	5.802e-05	0	0	0	0.0002	0	0	1.081e-05	0	1.162e-05	6.57e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.328	0.13219	T	0.294	0.20745	T	0.001	0.07471	B	0.001	0.04355	B	0.774265	0.06616	N	1.113210	1	0.08975	N	0	0.06538	N	2.71	0.12055	T	-0.99	0.26200	N	0.064	0.03613	-0.9853	0.33760	T	0.003	0.01026	T	10	0.02878958	0.01008	T	0.00195	0.03482	T	0.019	0.03383	0.246	0.18139	0.0138822411134	0.00435	0.2701466447163722	0.26927	0.289332929805	0.31346	0.310638546944	0.12004	T	0.001872	0.01289	T	-0.640481	0.00083	T	-0.865635	0.00784	T	0.0550951792205867	0.06373	T	.	.	.	0.024289249	0.01246	0.040453043	0.04376	0.024289249	0.01245	0.040453043	0.04375	-5.865	0.45136	T	.	.	0.085	0.10256	B	.	.	-0.886167	0.00949	0.037	0.84054234043948095	0.15070	0.02642	0.07243	N	ALL	0.081452	0.16482	N	-2.07067819084958	0.00149	0.006357273	-2.1763094748771	0.00126	0.005557355	1.0	0.98316	0.443343	0.08805	1	0.588066	0.40923	0	0.666236	0.60216	0	0.444512	0.06955	0	.	.	5.11	-10.2	0.00305	-2.948000	0.00744	.	.	-1.982000	0.00461	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2459:0.1219:0.3112:0.321	0.972	0.01328	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1401.98	35	chr6	31766524	.	G	A	1401.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.666;DP=822;ExcessHet=0.0000;FS=3.379;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=-1.400e-02;SOR=0.780	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1077	20	0	1	0
chr6	31770042	31770042	C	G	exonic	VWA7	.	nonsynonymous SNV	VWA7:NM_025258:exon8:c.G1159C:p.G387R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	N	1.000	D	3.12	M	-4.99	D	1.099	D	0.970	D	0.923	5.106	32	5.77	2.737	2.692	17.476	0.859	0.382536251345	0.0006	0.000798722	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0	0.0001	0.0002005	31	154602	rs139629177	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	3.826e-05	0.0001	9.557e-05	0.0002	0.0003	0.0004	0.0001	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	0.0004	0.0011	0.0001	0	0.0006	0	0	0.0004	0.0009	0	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	N	0.054728	0.999996	0.58761	D	2.64	0.77224	M	-4.99	0.98507	D	-6.55	0.91827	D	0.721	0.72299	1.099	0.99603	D	0.970	0.99068	D	10	0.7772854	0.77563	D	0.382536	0.93005	D	0.859	0.95691	0.554	0.67133	0.860134384049	0.85878	0.8068829448024164	0.80643	0.998807658357	0.74341	0.587986767292	0.51209	T	0.358821	0.72532	T	0.248883	0.78496	D	0.501695	0.94650	D	0.899022877216339	0.55124	D	.	.	.	0.4187118	0.62006	0.31914598	0.57878	0.4187118	0.62006	0.31914598	0.57877	-3.133	0.11679	T	.	.	0.436	0.61485	A	.	.	4.232157	0.64097	24.7	0.99939990095006093	0.99767	0.77015	0.37822	D	ALL	0.572521	0.57606	D	0.81297688879816	0.86912	9.03981	0.759839886209209	0.86892	9.036705	1.0	0.98316	0.696267	0.57585	0	0.637152	0.57089	0	0.659943	0.59835	0	0.636	0.56748	0	.	.	5.77	5.77	0.91077	2.762000	0.47278	.	.	0.596000	0.33519	0.999000	0.42656	0.061000	0.22037	0.949000	0.49496	0.0:1.0:0.0:0.0	17.476	0.87552	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1234.98	40	chr6	31770042	.	C	G	1234.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.500e+00;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=0.056;SOR=0.742	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,101,1424	20	0	1	0
chr6	31779733	31779733	C	T	exonic	VARS1	.	nonsynonymous SNV	VARS1:NM_006295:exon27:c.G3163A:p.V1055I,	.	.	420	1076	26	0	0	26	0.0119376	.	.	710410	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.38	T	0.69	P	0.205	B	0.000	N	1.000	D	1.95	M	2.58	T	-1.005	T	0.015	T	0.094	0.630	7.388	3.54	0.647	0.609	10.026	0.062	.	0.0043	0.0103834	0.0069	0.0008	0.0038	0.0136	0.0005	0.0061	0.0059	0.0143	0.0062806	971	154602	rs5030798	0.0055	0.0055	0.0050	0.0060	0.0440	0.0054	0.0054	0.0423	0.0416	0.0007	0.0044	0.0311	0.0440	0.0007	0.0206	0.0030	0.0068	0.0153	0.0047	0.0047	0.0042	0.0052	0.0159	0.0044	0.0043	0.0131	0.0120	0.0008	0	0.0063	0.0262	0.0143	0.0005	0.0204	0.0046	0.0062	0.0159	0.409	0.10180	T	0.418	0.14200	T	0.69	0.41631	P	0.205	0.37080	B	0.000087	0.51296	N	0.128615	0.987247	0.24536	N	2.075	0.57047	M	2.58	0.13434	T	-0.67	0.19297	N	0.156	0.16168	-1.0054	0.28337	T	0.015	0.05946	T	10	0.004672885	0.00098	T	.	.	.	0.062	0.17934	.	.	0.250512400709	0.24649	0.2745190858688172	0.27364	0.370001137427	0.38527	0.428485929966	0.29001	T	0.005444	0.04891	T	-0.651454	0.00071	T	-0.696221	0.06035	T	0.00591169167620866	0.00065	T	.	.	.	0.016296592	0.00188	0.07550983	0.16630	0.016296592	0.00188	0.07550983	0.16629	-6.096	0.47076	T	.	.	0.084	0.09723	B	.	.	1.129263	0.15156	11.63	0.9357667089964874	0.23421	0.46234	0.27715	N	AEFBCI	0.116620	0.22881	N	-0.540251191564904	0.20791	1.098625	-0.585729892632792	0.19864	1.067732	0.999686028024376	0.41756	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.3	3.54	0.39650	0.311000	0.19129	.	.	-0.800000	0.03169	0.001000	0.13787	0.001000	0.17328	0.335000	0.25317	0.0:0.8341:0.0:0.1659	10.026	0.41243	895	0.25842	Methionyl/Valyl/Leucyl/Isoleucyl-tRNA synthetase, anticodon-binding|Valyl tRNA synthetase, anticodon-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1400.98	40	chr6	31779733	.	C	T	1400.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=872;ExcessHet=0.0000;FS=3.089;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.46;ReadPosRankSum=1.08;SOR=0.921	GT:AD:DP:GQ:PL	0/1:73,61:134:99:1415,0,1643	20	0	1	0
chr6	31811171	31811171	C	T	exonic	HSPA1L	.	nonsynonymous SNV	HSPA1L:NM_005527:exon2:c.G802A:p.A268T,	.	.	424	1070	25	3	0	31	0.0142791	.	.	359039	HSPA1L-related_disorder|not_provided|Inflammatory_bowel_disease_1	.|MedGen:C3661900|MONDO:MONDO:0009960,MedGen:CN260071,OMIM:266600	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.004	N	1.000	D	3.88	H	5.23	T	-1.144	T	0.022	T	0.842	4.420	23.5	5.26	2.741	7.651	16.413	0.374	.	0.0009	0.00499201	0.0050	9.885e-05	0.0034	0.0008	0.0030	0.0025	0.0066	0.0223	0.0043531	673	154602	rs34620296	0.0030	0.0030	0.0024	0.0037	0.0229	0.0030	0.0029	0.0220	0.0217	0.0002	0.0023	0.0102	0.0017	0.0027	0.0068	0.0014	0.0043	0.0229	0.0021	0.0021	0.0016	0.0027	0.0179	0.0019	0.0018	0.0148	0.0137	0.0002	0	0.0020	0.0095	0.0012	0.0022	0.0034	0.0019	0.0019	0.0179	0.0	0.91255	D	0.024	0.56640	D	1.0	0.90584	D	0.999	0.92359	D	0.003848	0.34414	N	0.000000	1	0.81001	D	3.655	0.94224	H	5.23	0.01143	T	-3.23	0.65056	D	0.908	0.90932	-1.1440	0.01216	T	0.022	0.09421	T	10	0.01235792	0.00266	T	.	.	.	0.374	0.69273	.	.	0.800990742503	0.79913	0.18448163884564248	0.18367	0.931726599292	0.71849	0.806905388832	0.83017	D	0.089201	0.38321	T	-0.152284	0.27956	T	0.0267313	0.72066	D	0.104186402596955	0.12810	T	.	.	.	0.38018766	0.59330	0.43678823	0.67120	0.38018766	0.59330	0.43678823	0.67120	-11.706	0.83390	D	.	.	0.300	0.52977	B	.	.	4.421142	0.68481	25.2	0.99909526490545897	0.97949	0.99425	0.95866	D	AEFDBI	0.931632	0.92074	D	0.970275376962282	0.94755	13.01294	0.870157219432763	0.94135	12.531	0.99999999999948	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.26	5.26	0.73479	7.905000	0.86479	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.716000	0.34643	0.0:1.0:0.0:0.0	16.413	0.83562	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3135.98	138	chr6	31811171	.	C	T	3135.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.127e+00;DP=2612;ExcessHet=0.0000;FS=6.580;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=-8.530e-01;QD=14.39;ReadPosRankSum=1.70;SOR=0.629	GT:AD:DP:GQ:PL	0/0:147,0:147:99:0,120,1800	20	0	1	0
chr6	31869232	31869232	G	C	exonic	SLC44A4	.	nonsynonymous SNV	SLC44A4:NM_001178044:exon12:c.C1030G:p.Q344E	.	.	423	1074	25	0	0	25	0.0115048	.	.	710422	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.09	T	0.0	B	0.002	B	.	.	0.997	N	1.22	L	2.0	T	-1.025	T	0.022	T	0.293	2.410	14.02	4.79	1.385	3.982	13.853	0.077	.	0.0043	0.00878594	0.0065	0.0007	0.0039	0.0131	0.0005	0.0061	0.0048	0.0125	0.0057891	895	154602	rs117127493	0.0052	0.0052	0.0048	0.0056	0.0402	0.0051	0.0050	0.0386	0.0379	0.0008	0.0044	0.0309	0.0402	0.0007	0.0202	0.0030	0.0065	0.0119	0.0046	0.0046	0.0042	0.0051	0.0135	0.0043	0.0042	0.0108	0.0099	0.0009	0	0.0064	0.0265	0.0133	0.0005	0.0204	0.0047	0.0062	0.0135	0.078	0.33923	T	0.319	0.20357	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	0.998247	0.22858	N	1.715	0.44382	L	2.0	0.21473	T	-0.46	0.17003	N	0.418	0.50508	-1.0252	0.22017	T	0.022	0.09147	T	9	0.00639078	0.00145	T	.	.	.	0.077	0.22490	.	.	0.112648838833	0.10856	0.43523957592595125	0.43440	0.321883225191	0.34388	0.340873539448	0.16569	T	0.005345	0.04790	T	-0.49694	0.00595	T	-0.476209	0.24851	T	0.0134966109091628	0.00247	T	.	.	.	0.2327637	0.46069	0.31292823	0.57293	0.28253552	0.51290	0.31292823	0.57292	-4.207	0.26853	T	.	.	0.064	0.02228	B	.;.;.;.	.;.;.;.	3.356537	0.46317	22.3	0.9855314332973758	0.42871	0.83893	0.42985	D	AEFDBI	0.703168	0.65929	D	-0.0889971066839063	0.37874	2.209861	0.0838769118871218	0.43739	2.669406	0.897160004420779	0.25995	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.67	4.79	0.60909	3.154000	0.50391	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.1533:0.8467:0.0	13.853	0.63005	912	0.21483	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1910.98	40	chr6	31869232	.	G	C	1910.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.990e+00;DP=1002;ExcessHet=0.0000;FS=5.627;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=-1.070e-01;SOR=0.403	GT:AD:DP:GQ:PL	0/1:85,82:167:99:1925,0,2181	20	0	1	0
chr6	31896934	31896934	G	T	exonic	EHMT2	.	nonsynonymous SNV	EHMT2:NM_001289413:exon1:c.C269A:p.A90D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.95	P	0.525	P	0.002	N	0.978	N	0	N	-0.63	T	-0.964	T	0.102	T	0.195	2.089	12.94	2.88	0.686	2.273	9.369	0.116	0.0568159755937	.	0.00139776	0.0012	0	0	0.0051	0	0	0	0.0069	0.0009508	147	154602	rs529607342	0.0005	0.0005	0.0003	0.0006	0.0058	0.0004	0.0004	0.0054	0.0052	0	0	0	0.0036	0	0.0002	0	0.0005	0.0058	0.0003	0.0003	0.0002	0.0005	0.0052	0.0003	0.0002	0.0036	0.0031	4.823e-05	0	0	0	0.0049	0	0	0	0	0.0052	0.001	0.78490	D	0.149	0.43344	T	0.008	0.53761	B	0.021	0.40142	B	0.002360	0.36727	N	0.000000	0.978385	0.25252	N	0	0.06538	N	-0.66	0.74159	T	-0.32	0.12847	N	0.406	0.46835	-0.9643	0.38350	T	0.102	0.37768	T	10	0.003607422	0.00065	T	0.056816	0.66741	D	0.116	0.32463	0.134	0.03833	0.852139992928	0.85071	0.189770225607828	0.18895	0.800060676162	0.66198	0.588273584843	0.51251	T	0.028095	0.20428	T	-0.426371	0.01560	T	-0.381643	0.35531	T	0.0998477388706951	0.12341	T	.	.	.	0.2517797	0.48189	0.27577627	0.53517	0.2517797	0.48189	0.27577627	0.53516	-3.188	0.12603	T	.	.	0.111	0.28607	B	.;.;.;.	.;.;.;.	2.316680	0.29664	18.19	0.98341003853415176	0.40438	0.80576	0.40177	D	AEFDGBCI	0.183027	0.31035	N	-0.2610453185768	0.30665	1.71195	-0.192846953644545	0.31798	1.802965	0.999998415460278	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	3.79	2.88	0.32617	0.772000	0.26309	.	.	0.640000	0.52149	0.001000	0.13787	1.000000	0.68203	0.679000	0.33513	0.0:0.2201:0.7799:0.0	9.369	0.37402	917	0.20147	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1034.98	37	chr6	31896934	.	G	T	1034.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.546;DP=902;ExcessHet=0.0000;FS=3.892;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=-2.044e+00;SOR=0.852	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr6	31954626	31954631	CGATCC	-	exonic	NELFE	.	nonframeshift deletion	NELFE:NM_002904:exon7:c.666_671del:p.D227_R228del,	.	.	422	1016	78	6	0	90	0.0424128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0084	0.00579073	0.0094	0.0007	0.0115	0.0004	0.0022	0.0123	0.0137	0.0087	0.00146	38	26028	rs202172278	0.0067	0.0067	0.0062	0.0071	0.0436	0.0066	0.0065	0.0392	0.0374	0.0010	0.0126	0.0786	0.0004	0.0018	0.0436	0.0047	0.0122	0.0087	0.0072	0.0071	0.0070	0.0074	0.0151	0.0068	0.0067	0.0134	0.0128	0.0010	0	0.0151	0.0773	0.0006	0.0011	0.0451	0.0069	0.0159	0.0043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	7972.64	42	chr6	31954625	.	TCGATCC	T	7972.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.08;DP=1264;ExcessHet=0.3300;FS=1.122;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=18.12;ReadPosRankSum=-7.130e-01;SOR=0.604	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	3	0
chr6	31965884	31965884	C	-	exonic	SKIV2L	.	frameshift deletion	SKIV2L:NM_006929:exon18:c.2073delC:p.L692Cfs*41,	Trichohepatoenteric syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1335.94	38	chr6	31965883	.	AC	A	1335.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.305;DP=838;ExcessHet=0.0000;FS=0.751;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.49;ReadPosRankSum=-4.370e-01;SOR=0.593	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr6	31967105	31967105	G	C	exonic	SKIV2L	.	nonsynonymous SNV	SKIV2L:NM_006929:exon20:c.G2442C:p.W814C,	Trichohepatoenteric syndrome 2, Autosomal recessive	YES	0	1513	9	0	0	9	0.0029654	.	.	895810	See_cases|Trichohepatoenteric_syndrome_2|not_provided|SKIC2-related_disorder	.|MONDO:MONDO:0013818,MedGen:C3281289,OMIM:614602,Orphanet:84064|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.17	T	0.985	D	0.781	P	0.000	D	1.000	D	0.895	L	1.0	T	-1.064	T	0.084	T	0.654	1.243	10.05	4.79	1.390	2.489	14.091	0.152	0.0132432397357	0.0006	0.000599042	0.0009	0.0002	0.0008	0.0001	0	0.0013	0	0.0004	0.0008344	129	154602	rs148221996	0.0009	0.0009	0.0008	0.0009	0.0055	0.0009	0.0008	0.0040	0.0035	0.0003	0.0012	0.0013	0	7.65e-05	0.0055	0.0009	0.0011	0.0007	0.0007	0.0007	0.0007	0.0008	0.0013	0.0006	0.0006	0.0011	0.0010	7.217e-05	0	0.0008	0.0006	0	0	0.0136	0.0013	0.0005	0.0004	0.102	0.30235	T	0.182	0.29249	T	0.985	0.61118	D	0.781	0.57337	P	0.000149	0.49130	D	0.171563	0.999996	0.58761	D	1.5	0.37844	L	1.0	0.41392	T	-0.57	0.17210	N	0.514	0.54496	-1.0642	0.10736	T	0.084	0.32729	T	10	0.027136385	0.00865	T	0.013243	0.32488	T	0.152	0.39956	0.448	0.50793	0.488266720666	0.48458	0.6527026082036311	0.65206	1.01233321786	0.74823	0.479667007923	0.36010	T	0.045652	0.27188	T	-0.316006	0.07230	T	-0.267231	0.48100	T	0.0455885371250696	0.04710	T	.	.	.	0.41510364	0.61764	0.24289657	0.49721	0.41510364	0.61765	0.24289657	0.49720	-4.053	0.24594	T	.	.	0.513	0.65163	A	.	.	3.394735	0.47017	22.4	0.89525173881678322	0.18872	0.96015	0.67148	D	AEFGBI	0.527268	0.54928	D	0.31194114473843	0.56762	3.841381	0.332179747563783	0.57440	3.909722	0.999999785590353	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.66	4.79	0.60909	1.444000	0.34679	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.1505:0.8495:0.0	14.091	0.64519	923	0.18507	rRNA-processing arch domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1670.98	35	chr6	31967105	.	G	C	1670.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.043;DP=834;ExcessHet=0.0000;FS=2.272;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.76;ReadPosRankSum=0.217;SOR=0.516	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1317	20	0	1	0
chr6	31996553	31996553	T	G	exonic	C4A;C4B;C4B_2;LOC110384692	.	nonsynonymous SNV	C4B:NM_001002029:exon28:c.T3629G:p.L1210R	.	.	2	1448	71	1	0	73	0.0245874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.0	B	0.0	B	.	.	1.000	P	-1.74	N	1.55	T	-0.939	T	0.004	T	0.204	-2.519	0.003	-6.54	-1.736	-0.759	5.704	0.061	.	.	.	0.0058	0.0056	0.0100	0.0069	0.0007	0.0063	0.0040	0.0036	3.23e-05	5	154602	rs28357076	0.0007	0.0025	0.0006	0.0007	0.0021	0.0006	0.0006	0.0017	0.0016	0.0015	0.0009	0.0002	0.0021	0.0007	0.0014	0.0005	0.0007	0.0012	0.0014	0.0042	0.0014	0.0015	0.0024	0.0013	0.0012	0.0020	0.0019	0.0024	0	0.0017	0.0006	0.0023	0.0001	0	0.0010	0.0010	0.0011	0.917	0.02327	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	-1.88	0.00248	N	1.55	0.29866	T	1.17	0.01121	N	0.065	0.06587	-0.9386	0.42837	T	0.004	0.01365	T	8	0.005549848	0.00123	T	.	.	.	0.061	0.17616	.	.	.	.	0.3103683523119763	0.30949	.	.	.	.	.	0.003124	0.02525	T	-0.653859	0.00069	T	-0.682724	0.06818	T	0.000517572450278177	0.00004	T	0.369963	0.08710	T	0.0992703	0.23427	0.069453366	0.14635	0.0992703	0.23426	0.069453366	0.14634	1.17	0.00123	T	.	.	0.045	0.00043	B	.;.	.;.	-1.765232	0.00169	0.002	0.49284754452001944	0.04184	0.00039	0.00329	N	AEFDI	0.125283	0.24172	N	-2.27395090326263	0.00052	0.002238132	-2.26176583485372	0.00081	0.003562557	0.126218125399761	0.16995	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.53	-6.54	0.01692	-0.915000	0.04142	.	.	-3.027000	0.00136	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3386:0.0:0.5066:0.1548	5.704	0.17166	923	0.18507	Alpha-macroglobulin complement component;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1843.98	33	chr6	31996553	.	T	G	1843.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.624;DP=959;ExcessHet=0.0000;FS=2.858;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.44;MQRankSum=-3.984e+00;QD=21.69;ReadPosRankSum=0.495;SOR=0.925	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1447	20	0	1	0
chr6	31996969	31996969	C	A	exonic	C4A;C4B;C4B_2;LOC110384692	.	nonsynonymous SNV	C4B:NM_001002029:exon29:c.C3817A:p.L1273M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.145	M	1.02	T	-0.791	T	0.167	T	0.354	2.539	14.45	3.27	1.829	0.974	10.203	0.232	0.0424103287447	.	0.000399361	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs573614770	0.0002	0.0001	8.844e-05	0.0002	0.0021	0.0001	0.0001	0.0018	0.0017	0	0	0	0	0	0.0004	7.914e-06	0.0001	0.0021	6.154e-05	6.373e-05	7.646e-05	4.426e-05	0.0012	1.632e-05	8.52e-06	0.0002	8.597e-05	0	0	0	0	0.0004	0	0	0	0	0.0012	0.006	0.61437	D	0.014	0.62352	D	1.0	0.90584	D	0.998	0.88582	D	0.000162	0.48594	D	0.084749	0.998878	0.45601	D	2.555	0.74557	M	1.02	0.40749	T	-1.27	0.32791	N	0.34	0.46649	-0.7915	0.55642	T	0.167	0.50583	T	10	0.20531023	0.36753	T	0.04241	0.60446	D	0.232	0.53354	0.67	0.80803	0.154104182512	0.14974	0.49429470173495477	0.49350	.	.	.	.	.	0.019648	0.15616	T	-0.124902	0.32326	T	-0.417189	0.31398	T	0.154500084375549	0.17456	T	0.781022	0.41604	T	0.3783549	0.59197	0.23381013	0.48580	0.3783549	0.59198	0.23381013	0.48579	-6.081	0.46952	T	.	.	0.221	0.47762	B	.;.	.;.	3.407931	0.47264	22.4	0.99561798836066884	0.71831	0.59049	0.30808	D	AEFGI	0.370444	0.45681	N	0.324228720039087	0.57394	3.90661	0.188736686424722	0.49229	3.128633	0.138114833673542	0.17221	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.27	3.27	0.36580	0.453000	0.21523	.	.	0.306000	0.19039	0.931000	0.32310	1.000000	0.68203	0.595000	0.31264	0.0:1.0:0.0:0.0	10.203	0.42270	923	0.18507	Alpha-macroglobulin complement component;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02632	72.93	2	chr6	31996969	.	C	A	72.93	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.744e+00;DP=233;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0907;MLEAC=1;MLEAF=0.026;MQ=37.68;MQRankSum=-3.330e-01;QD=6.63;ReadPosRankSum=-1.602e+00;SOR=0.180	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1116	18	0	1	2
chr6	32029706	32029706	C	A	exonic	C4B;C4B_2	.	nonsynonymous SNV	C4B:NM_001002029:exon29:c.C3817A:p.L1273M	.	.	2	1518	2	0	0	2	0.000658328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	N	2.335	M	1.02	T	-1.016	T	0.122	T	0.274	1.104	9.505	1.83	0.464	1.117	4.411	0.161	0.0112061428167	.	0.000599042	0.0005	0	8.752e-05	0	0	1.597e-05	0.0035	0.0035	0.0001537	4	26028	rs534416443	5.756e-05	0.0002	3.817e-05	7.715e-05	0.0009	4.751e-05	4.373e-05	0.0007	0.0007	0	0	0	0	0	0	2.698e-06	6.631e-05	0.0009	3.941e-05	9.843e-05	0	8.061e-05	0.0010	1.715e-05	1.129e-05	0.0004	0.0003	2.405e-05	0	0	0	0	0	0	0	0	0.0010	0.005	0.63226	D	0.012	0.63918	D	1.0	0.90584	D	0.998	0.88582	D	0.000162	0.48594	D	0.084749	0.999994	0.08975	N	2.495	0.72670	M	1.02	0.40749	T	-1.33	0.33197	N	0.332	0.49692	-1.0159	0.25045	T	0.122	0.42441	T	10	0.024377257	0.00669	T	0.011206	0.28600	T	0.161	0.41658	.	.	0.112648838833	0.10856	0.6027401659459228	0.60205	.	.	.	.	.	0.022551	0.17365	T	-0.445877	0.01194	T	-0.463689	0.26198	T	0.174248690183449	0.18865	T	.	.	.	0.2885071	0.51853	0.15593614	0.36530	0.2885071	0.51853	0.15593614	0.36529	-6.042	0.46629	T	.	.	0.188	0.44617	B	.;.	.;.	3.437544	0.47809	22.5	0.98707852280728892	0.45011	0.48836	0.28297	N	AEFGI	0.657479	0.62909	D	-0.0723915388053536	0.38606	2.263731	-0.267673768771294	0.29171	1.632151	5.83762833345414E-4	0.07390	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.76	1.83	0.24279	1.275000	0.32748	.	.	-0.186000	0.09761	0.770000	0.29357	1.000000	0.68203	0.152000	0.20376	0.0:0.6091:0.1867:0.2042	4.411	0.10861	923	0.18507	Alpha-macroglobulin complement component;Alpha-macroglobulin complement component	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1237.98	150	chr6	32029706	.	C	A	1237.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.701e+00;DP=2124;ExcessHet=0.0000;FS=2.239;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=38.27;MQRankSum=-7.520e-01;QD=2.92;ReadPosRankSum=0.379;SOR=0.932	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1317	20	0	1	0
chr6	32041911	32041911	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon12:c.G1780A:p.G594S	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2414171	Vesicoureteral_reflux_8|not_provided	MONDO:MONDO:0014422,MedGen:C4014831,OMIM:615963,Orphanet:289365|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.999	D	0.000	D	1.000	D	1.76	L	-4.48	D	0.983	D	0.902	D	0.372	4.262	22.2	4.69	2.454	1.762	10.250	0.586	0.199805592016	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1172643715	2.412e-05	2.8e-05	3.644e-05	1.307e-05	6.524e-05	1.399e-05	1.094e-05	2.222e-05	1.325e-05	0	0	0	6.274e-05	0	0	2.281e-05	0	6.524e-05	2.196e-05	3.434e-05	4.049e-05	0	0.0003	3.65e-06	1.37e-06	.	.	0	0	0	0	0.0003	0	0	2.346e-05	0	0	0.0	0.91255	D	0.004	0.74150	D	.	.	.	.	.	.	0.000094	0.51296	D	0.000000	0.910989	0.47237	D	.	.	.	-4.48	0.97606	D	-3.76	0.82063	D	0.346	0.52475	0.983	0.96907	D	0.902	0.96735	D	10	0.7798842	0.77765	D	0.199806	0.86673	D	0.586	0.83416	.	.	0.790987036813	0.78904	0.385756806340669	0.38490	2.96933213237	0.99172	0.699285507202	0.67041	T	0.111066	0.42626	T	0.198292	0.73732	D	0.0470561	0.73390	D	0.971623063087463	0.69388	D	0.887111	0.62511	D	0.6876782	0.77385	0.5944096	0.76456	0.6876782	0.77387	0.5944096	0.76457	-6.371	0.49283	T	0.12374704874656832	0.12038	0.315	0.56722	B	.;.;.;.;.	.;.;.;.;.	5.065184	0.84448	28.3	0.99822850304253674	0.90590	0.82093	0.41374	D	AEFGI	0.457018	0.50864	N	0.518099191109059	0.68161	5.179197	0.469024873802736	0.65947	4.888676	0.887321095711896	0.25762	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.69	4.69	0.58546	2.071000	0.41125	.	.	0.594000	0.32500	0.908000	0.31627	0.999000	0.35428	0.972000	0.54974	0.0:0.9078:0.0:0.0922	10.250	0.42542	923	0.18507	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	54.18	21	chr6	32041911	.	C	T	54.18	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.73;DP=314;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0360;MLEAC=1;MLEAF=0.024;MQ=34.43;MQRankSum=0.187;QD=4.17;ReadPosRankSum=-1.690e+00;SOR=0.124	GT:AD:DP:GQ:PL	0/0:19,0:19:51:0,51,765	20	0	1	0
chr6	32042010	32042010	A	G	splicing	TNXB	NM_001365276:exon42:c.12469+2T>C;NM_019105:exon42:c.12463+2T>C;NM_032470:exon11:c.1756+2T>C	.	.	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	649	852	18	3	0	24	0.0138889	0.9639	0.64	443945	not_provided|TNXB-related_disorder|Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency	MedGen:C3661900|.|MONDO:MONDO:0011670,MedGen:C1848029,OMIM:606408,Orphanet:230839	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.431	14.09	4.66	1.982	6.977	13.272	.	.	.	.	0.1082	0	0.5	0	.	0.0645	.	0.1404	0.0011142	29	26028	rs545719209	0.0111	0.0085	0.0100	0.0121	0.0515	0.0108	0.0107	0.0437	0.0407	0.0055	0.0098	0.0238	0.0005	0.0011	0.0515	0.0102	0.0132	0.0240	0.0106	0.0069	0.0103	0.0111	0.0192	0.0100	0.0097	0.0143	0.0126	0.0048	0	0.0147	0.0314	0.0027	0.0012	0.0802	0.0123	0.0272	0.0192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.111952	0.34447	T	0.085336	0.75934	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	3.922929	0.57282	23.8	0.99383401819633854	0.61979	0.98625	0.84843	D	AEFGI	.	.	.	0.968673653607969	0.94697	12.96467	0.764717257158417	0.87252	9.158453	0.999974908037553	0.50053	0.164513	0.03853	0	0.195528	0.04277	0	0.083675	0.02720	0	0.062806	0.01542	0	0.857618	0.52466	4.66	4.66	0.57857	4.342000	0.59122	.	.	0.749000	0.86810	1.000000	0.71638	1.000000	0.68203	0.312000	0.24784	1.0:0.0:0.0:0.0	13.272	0.59600	923	0.18507	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	80.31	14	chr6	32042010	.	A	G	80.31	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.440e-01;DP=140;ExcessHet=0.0000;FS=7.549;InbreedingCoeff=-0.0583;MLEAC=1;MLEAF=0.026;MQ=31.27;MQRankSum=1.17;QD=5.74;ReadPosRankSum=-7.080e-01;SOR=0.039	GT:AD:DP:GQ:PL	0/0:5,0:5:15:0,15,164	18	0	1	2
chr6	32043506	32043506	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon5:c.G868A:p.A290T	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	120	1399	3	0	0	3	0.00107105	.	.	1694692	not_specified|Ehlers-Danlos_syndrome|not_provided	MedGen:CN169374|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.14	T	0.997	D	0.841	P	0.454	N	1.000	D	2.34	M	0.49	T	-0.887	T	0.167	T	0.246	2.279	13.58	1.71	0.032	2.579	8.498	0.200	0.0180251940798	.	0.00119808	0.0024	0.0017	0.0046	0	0	0.0035	0	0.0009	0.0003458	9	26028	rs201121030	0.0010	0.0008	0.0009	0.0011	0.0068	0.0009	0.0009	0.0043	0.0036	0.0002	0.0012	0.0012	6.07e-05	9.129e-05	0.0068	0.0012	0.0011	0.0006	0.0008	0.0008	0.0007	0.0009	0.0012	0.0006	0.0006	0.0010	0.0009	0.0003	0	0.0005	0.0003	0	0	0.0112	0.0012	0.0008	0	0.008	0.78490	D	0.0	0.92824	D	.	.	.	.	.	.	0.453655	0.12476	N	0.735618	0.922697	0.53665	D	.	.	.	0.49	0.55775	T	-2.65	0.69593	D	0.208	0.23125	-0.8871	0.49180	T	0.167	0.50599	T	10	0.009551793	0.00215	T	0.018025	0.39953	T	0.200	0.48430	.	.	0.165150595986	0.16160	0.41286035044583586	0.41202	0.371747863183	0.38671	0.419020175934	0.27702	T	0.094282	0.39385	T	-0.380816	0.03080	T	-0.360326	0.38016	T	0.0379868352208285	0.03329	T	0.684832	0.29327	T	0.15986133	0.35887	0.15757751	0.36839	0.15986133	0.35887	0.15757751	0.36838	-7.988	0.63082	D	0.1229657868823964	0.11852	0.113	0.23918	B	.;.;.;.;.	.;.;.;.;.	2.466423	0.31778	18.84	0.99176587259969862	0.54556	0.63644	0.32154	D	AEFGI	0.196714	0.32367	N	-0.231261647715226	0.31856	1.790603	-0.433831537383387	0.24010	1.312506	0.0100591575076075	0.11959	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.44	1.71	0.23429	1.647000	0.36876	.	.	-0.176000	0.10722	0.626000	0.27965	0.258000	0.23964	0.143000	0.20056	0.0:0.6752:0.0:0.3248	8.498	0.32299	917	0.20147	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	124.12	11	chr6	32043506	.	C	T	124.12	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.189e+00;DP=198;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0335;MLEAC=1;MLEAF=0.024;MQ=40.00;MQRankSum=0.00;QD=17.73;ReadPosRankSum=0.328;SOR=0.941	GT:AD:DP:GQ:PL	0/0:12,0:12:36:0,36,410	20	0	1	0
chr6	32043548	32043548	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon5:c.G826A:p.G276S	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	46	1439	32	5	0	42	0.0143836	.	.	1683144	not_provided|See_cases	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.58	T	0.969	D	0.572	P	0.001	D	1.000	D	1.495	L	0.5	T	-1.072	T	0.091	T	0.191	2.825	15.41	4.51	2.551	2.091	11.335	0.137	.	0.0018	0.00339457	0.0068	0.0016	0.0103	0.0017	0.0003	0.0063	0.0075	0.0139	0.0007684	20	26028	rs199688928	0.0039	0.0035	0.0034	0.0043	0.0194	0.0038	0.0037	0.0155	0.0140	0.0004	0.0055	0.0097	0.0003	0.0002	0.0194	0.0032	0.0058	0.0100	0.0032	0.0034	0.0027	0.0037	0.0095	0.0029	0.0028	0.0069	0.0061	0.0005	0	0.0078	0.0082	0.0014	0	0.0106	0.0035	0.0052	0.0095	0.298	0.18000	T	0.0	0.92824	D	.	.	.	.	.	.	0.000500	0.43931	D	0.101185	1	0.81001	D	.	.	.	0.5	0.55608	T	-4.0	0.81269	D	0.428	0.46742	-1.0719	0.09001	T	0.091	0.34847	T	10	0.009701818	0.00218	T	.	.	.	0.137	0.36984	.	.	0.316918214084	0.31302	0.4136048951951291	0.41276	1.07586337657	0.76961	0.59685254097	0.52460	T	0.064485	0.32447	T	-0.471116	0.00837	T	-0.442537	0.28526	T	0.0281921996046609	0.01716	T	0.668433	0.72366	T	0.20872347	0.43117	0.20812012	0.45100	0.20204142	0.42235	0.19100328	0.42534	-6.141	0.47444	T	0.12400312571121505	0.12101	0.297	0.52728	B	.;.;.;.;.	.;.;.;.;.	4.120674	0.61586	24.4	0.9950172087484398	0.68089	0.75628	0.37039	D	AEFGBI	0.269367	0.38566	N	0.186475487493959	0.50551	3.243918	0.191575787999785	0.49384	3.142268	0.170872636974423	0.17733	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.44	4.51	0.54589	2.440000	0.44513	.	.	0.599000	0.40250	0.294000	0.25270	1.000000	0.68203	0.696000	0.34018	0.0:0.8166:0.1834:0.0	11.335	0.48734	917	0.20147	Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.119	988.81	8	chr6	32043548	.	C	T	988.81	.	AC=5;AF=0.119;AN=42;BaseQRankSum=1.97;DP=252;ExcessHet=0.0409;FS=0.000;InbreedingCoeff=0.2965;MLEAC=5;MLEAF=0.119;MQ=39.42;MQRankSum=0.057;QD=17.05;ReadPosRankSum=-3.950e-01;SOR=0.629	GT:AD:DP:GQ:PL	0/0:17,0:17:48:0,48,720	17	1	3	0
chr6	32044417	32044417	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon2:c.G514A:p.D172N	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	969	551	2	0	0	2	0.00181159	.	.	977220	Ehlers-Danlos_syndrome|Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency|not_specified	MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MONDO:MONDO:0011670,MedGen:C1848029,OMIM:606408,Orphanet:230839|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.2	T	1.0	D	0.998	D	0.000	D	1.000	N	1.67	L	3.61	T	-1.112	T	0.026	T	0.066	3.065	16.23	5.69	2.696	4.005	16.727	0.211	0.0112294948627	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1254121532	0.0012	0.0010	0.0011	0.0012	0.0077	0.0011	0.0010	0.0045	0.0036	9.112e-05	0.0009	0.0014	3.759e-05	4.139e-05	0.0077	0.0015	0.0012	0.0006	0.0007	0.0009	0.0005	0.0011	0.0011	0.0005	0.0004	0.0007	0.0006	0.0005	0	0	0	0	0	0.0244	0.0011	0	0	0.128	0.26965	T	0.014	0.62352	D	.	.	.	.	.	.	0.000012	0.62929	D	0.000000	0.708464	0.33494	D	.	.	.	3.61	0.04446	T	-3.02	0.63207	D	0.25	0.34981	-1.1120	0.02903	T	0.026	0.10954	T	10	0.090438515	0.15755	T	0.011229	0.28641	T	0.211	0.50185	.	.	0.34333109794	0.33943	0.15226631428976453	0.15148	3.36241963825	0.99660	0.745373129845	0.73763	T	0.065093	0.32602	T	-0.320564	0.06851	T	-0.698244	0.05922	T	0.0925209306345529	0.11513	T	0.815218	0.55818	T	0.19357169	0.41073	0.18642567	0.41814	0.19357169	0.41073	0.18642567	0.41813	-5.255	0.49767	T	0.12421210424589192	0.12153	0.243	0.49645	B	.;.;.;.;.	.;.;.;.;.	4.727138	0.76104	26.5	0.99595775648612905	0.73866	0.89054	0.49294	D	AEFGI	0.443556	0.50081	N	0.427867083973915	0.62959	4.520805	0.379457943957691	0.60300	4.216027	0.998892795442332	0.37915	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.69	5.69	0.88346	0.735000	0.25783	.	.	0.597000	0.34315	0.339000	0.25666	1.000000	0.68203	0.221000	0.22489	0.0:1.0:0.0:0.0	16.727	0.85284	917	0.20147	Fibronectin type III;.;Fibronectin type III;.;Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04545	106.45	3	chr6	32044417	.	C	T	106.45	.	AC=1;AF=0.045;AN=22;BaseQRankSum=1.15;DP=21;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1634;MLEAC=2;MLEAF=0.091;MQ=40.00;MQRankSum=0.00;QD=26.61;ReadPosRankSum=-1.150e+00;SOR=1.609	GT:AD:DP:GQ:PL	./.	10	0	1	10
chr6	32048435	32048435	T	C	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon29:c.A9973G:p.K3325E	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.999	D	0.989	D	0.000	D	1.000	N	2.02	M	0.48	T	-0.902	T	0.146	T	0.449	3.580	18.24	4.2	1.745	1.724	12.370	0.242	0.0159019866051	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1281137637	7.037e-07	2.736e-06	0	1.423e-06	2.561e-05	0	0	.	.	0	0	0	2.561e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	0.13003	T	0.027	0.55341	D	.	.	.	.	.	.	0.000088	0.51296	D	0.000000	0.991934	0.23960	N	.	.	.	0.48	0.55945	T	-2.51	0.54546	D	0.48	0.51494	-0.9022	0.47760	T	0.146	0.47111	T	10	0.33743906	0.50866	T	0.015902	0.36884	T	0.242	0.54781	.	.	0.281547015583	0.27767	.	.	.	.	0.564045608044	0.47838	T	0.120114	0.44213	T	-0.183518	0.23215	T	-0.322315	0.42320	T	0.716231465339661	0.41509	D	0.918108	0.72135	D	0.34806427	0.56916	0.26665413	0.52513	0.34806427	0.56916	0.26665413	0.52512	-8.756	0.66112	D	0.12779633786796385	0.13144	0.487	0.64862	A	.;.;.;.	.;.;.;.	4.144073	0.62115	24.4	0.99810868263523334	0.89442	0.74654	0.36525	D	ALL	0.321420	0.42423	N	0.255868686442951	0.53930	3.55996	0.22386276065754	0.51176	3.30231	1.0	0.98316	0.696267	0.57585	0	0.596394	0.48810	0	0.691665	0.62940	0	0.691587	0.68394	0	.	.	4.2	4.2	0.48814	1.643000	0.36833	.	.	0.605000	0.46263	0.945000	0.32849	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	12.370	0.54581	917	0.20147	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1686.98	150	chr6	32048435	.	T	C	1686.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.441e+00;DP=860;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=0.833;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1153	20	0	1	0
chr6	32049366	32049366	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon28:c.G9661A:p.V3221M	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	1	1488	30	3	0	36	0.0119522	.	.	205747	Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency|See_cases|Ehlers-Danlos_syndrome|not_provided|Cardiovascular_phenotype	MONDO:MONDO:0011670,MedGen:C1848029,OMIM:606408,Orphanet:230839|.|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.985	D	0.271	N	1.000	N	2.89	M	0.07	T	-0.812	T	0.254	T	0.237	1.058	9.319	0.372	0.002	-0.274	7.848	0.123	.	0.0001	0.00938498	0.0066	0.0003	8.724e-05	0	0	0.0003	0.0114	0.0450	0.0054915	849	154602	rs367685759	0.0028	0.0028	0.0016	0.0040	0.0409	0.0027	0.0027	0.0397	0.0393	0.0003	0.0001	0	0	3.752e-05	0.0006	0.0002	0.0037	0.0409	0.0013	0.0013	0.0008	0.0018	0.0371	0.0011	0.0011	0.0327	0.0309	0.0001	0	6.532e-05	0	0.0002	0	0	0.0001	0.0019	0.0371	0.033	0.44358	D	0.002	0.83351	D	.	.	.	.	.	.	0.271158	0.15125	N	0.555604	1	0.08975	N	.	.	.	0.07	0.61677	T	-1.73	0.41046	N	0.348	0.38950	-0.8124	0.54405	T	0.254	0.62428	T	10	0.0027631521	0.00043	T	.	.	.	0.123	0.34020	.	.	0.151262610727	0.14761	.	.	.	.	0.364150553942	0.19989	T	0.043968	0.26670	T	-0.472749	0.00817	T	-0.418991	0.31191	T	0.0215907399484421	0.00864	T	0.690331	0.35372	T	0.048401345	0.08429	0.06284763	0.12361	0.05358507	0.10161	0.06284763	0.12361	-9.023	0.67845	D	0.1228257435483675	0.11820	0.127	0.39029	B	.;.;.;.	.;.;.;.	1.601611	0.20476	14.77	0.99134390003135475	0.53356	0.03645	0.08896	N	AEFBI	0.060561	0.11517	N	-0.402326046957099	0.25388	1.377764	-0.691234755726822	0.17179	0.9123039	0.990088793033711	0.32033	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.28	0.372	0.15405	-0.022000	0.12424	.	.	-1.838000	0.00583	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.5223:0.0:0.4777	7.848	0.28597	917	0.20147	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1913.98	35	chr6	32049366	.	C	T	1913.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.439;DP=880;ExcessHet=0.0000;FS=1.955;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=0.454;SOR=0.592	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1280	20	0	1	0
chr6	32056873	32056873	G	A	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon23:c.C7856T:p.P2619L	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	0	1514	8	0	0	8	0.00263505	.	.	511656	Cardiovascular_phenotype|Ehlers-Danlos_syndrome|Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency|not_provided|not_specified	MedGen:CN230736|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MONDO:MONDO:0011670,MedGen:C1848029,OMIM:606408,Orphanet:230839|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.37	T	0.199	B	0.045	B	0.002	N	1.000	D	1.76	L	0.59	T	-1.054	T	0.091	T	0.352	2.880	15.60	4.09	1.835	3.693	13.294	0.194	0.0197306633525	0.0006	0.00119808	0.0009	0.0003	0.0006	0.0001	0	0.0014	0	0.0004	0.0008344	129	154602	rs183760368	0.0009	0.0009	0.0008	0.0009	0.0055	0.0008	0.0008	0.0040	0.0035	0.0005	0.0011	0.0013	0	7.632e-05	0.0055	0.0009	0.0010	0.0007	0.0008	0.0008	0.0007	0.0009	0.0013	0.0007	0.0006	0.0011	0.0010	0.0003	0	0.0008	0.0006	0	0	0.0136	0.0013	0.0005	0.0004	0.008	0.58626	D	0.01	0.83351	D	.	.	.	.	.	.	0.001789	0.00826	N	4.968620	0.924327	0.36772	D	.	.	.	0.59	0.53943	T	-5.23	0.83899	D	0.099	0.08088	-1.0537	0.13386	T	0.091	0.34765	T	10	0.021029472	0.00495	T	0.019731	0.42166	T	0.194	0.47447	.	.	0.261638197198	0.25763	.	.	.	.	0.323908895254	0.14013	T	0.306891	0.67907	T	-0.346399	0.04957	T	-0.315907	0.43021	T	0.0957816393141036	0.11886	T	0.608539	0.40135	T	0.13196036	0.30741	0.15864444	0.37037	0.13196036	0.30741	0.15864444	0.37036	-8.539	0.64687	D	0.12497254194179234	0.12352	0.102	0.18080	B	.;.;.;.	.;.;.;.	1.410041	0.18251	13.63	0.98909816530310446	0.48345	0.40446	0.26438	N	AEFBI	0.179891	0.30718	N	-0.431817293675742	0.24360	1.314827	-0.418046539142697	0.24468	1.339998	0.875396755466803	0.25505	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.530356	0.10902	0	.	.	4.09	4.09	0.47038	2.671000	0.46507	.	.	0.505000	0.23025	0.102000	0.22834	0.387000	0.24645	0.002000	0.04165	0.0:0.0:1.0:0.0	13.294	0.59721	917	0.20147	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1757.98	34	chr6	32056873	.	G	A	1757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.98;DP=852;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.85;MQRankSum=0.00;QD=12.74;ReadPosRankSum=0.420;SOR=0.723	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr6	32064851	32064851	C	G	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon19:c.G6811C:p.V2271L	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	2	1489	31	0	0	31	0.0103024	.	.	252300	not_specified|not_provided|Cardiovascular_phenotype|Ehlers-Danlos_syndrome	MedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.68	T	0.005	B	0.017	B	0.738	N	1.000	N	1.505	L	3.65	T	-0.909	T	0.003	T	0.078	1.940	12.44	-8.27	-1.753	-2.037	2.804	0.025	.	0.0042	0.00858626	0.0064	0.0009	0.0035	0.0131	0.0005	0.0061	0.0047	0.0113	0.0057438	888	154602	rs140770834	0.0053	0.0053	0.0049	0.0057	0.0400	0.0052	0.0051	0.0384	0.0377	0.0021	0.0048	0.0296	0.0400	0.0007	0.0235	0.0031	0.0065	0.0119	0.0049	0.0049	0.0044	0.0054	0.0135	0.0046	0.0045	0.0110	0.0100	0.0015	0	0.0066	0.0251	0.0135	0.0005	0.0204	0.0048	0.0066	0.0135	0.304	0.14303	T	0.285	0.21343	T	.	.	.	.	.	.	0.738196	0.06411	N	1.179880	1	0.08975	N	.	.	.	3.65	0.04267	T	-0.89	0.24026	N	0.057	0.02861	-0.9091	0.46965	T	0.003	0.00929	T	10	0.004063517	0.00079	T	.	.	.	0.025	0.05312	.	.	0.123314135267	0.11883	.	.	.	.	0.314401507378	0.12573	T	0.034229	0.23238	T	-0.723928	0.00026	T	-0.802261	0.01846	T	0.00382978151694769	0.00041	T	0.0770923	0.00568	T	0.070420764	0.15508	0.044852845	0.05903	0.058034055	0.11625	0.06733073	0.13913	-6.37	0.49275	T	0.12868766263925635	0.13357	0.159	0.35162	B	.;.;.	.;.;.	-1.546072	0.00268	0.004	0.80886153941094774	0.13416	0.00350	0.01805	N	AEFBI	0.070644	0.14031	N	-1.67153355631251	0.00948	0.04104736	-1.77717044078112	0.00835	0.03729989	0.995233291665387	0.34019	0.549168	0.22868	0	0.627178	0.54094	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.82	-8.27	0.00892	-2.248000	0.01271	.	.	-4.179000	0.00039	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0889:0.2928:0.2641:0.3542	2.804	0.05089	917	0.20147	Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1943.98	53	chr6	32064851	.	C	G	1943.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.140e-01;DP=998;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.57;ReadPosRankSum=1.06;SOR=0.715	GT:AD:DP:GQ:PL	0/1:98,86:184:99:1958,0,2415	20	0	1	0
chr6	32072218	32072218	T	C	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon13:c.A4762G:p.I1588V	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1204139	not_provided|Cardiovascular_phenotype	MedGen:C3661900|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.348	N	0.989	N	-1.825	N	0.48	T	-0.920	T	0.009	T	0.012	-2.295	0.004	2.34	0.179	-0.350	6.692	0.060	0.00222751202496	.	0.000798722	0.0008	0	0	0.0001	0	0	0	0.0057	0.0006468	100	154602	rs569747700	0.0003	0.0003	0.0002	0.0005	0.0054	0.0003	0.0003	0.0050	0.0048	0	0	0	2.519e-05	0	0	9e-07	0.0002	0.0054	0.0001	0.0001	3.856e-05	0.0002	0.0039	9.145e-05	7.701e-05	0.0026	0.0021	4.813e-05	0	0	0	0	0	0	0	0	0.0039	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.347941	0.13861	N	0.587209	1	0.08975	N	.	.	.	0.48	0.55945	T	0.31	0.04022	N	0.046	0.01825	-0.9198	0.45581	T	0.009	0.03359	T	10	0.0042253733	0.00084	T	0.002228	0.04233	T	0.060	0.17295	.	.	0.0675242888579	0.06100	.	.	.	.	0.433141648769	0.29639	T	0.020695	0.16251	T	-0.672657	0.00053	T	-0.738186	0.03967	T	0.01664863108666	0.00424	T	0.0788921	0.00581	T	0.019550757	0.00488	0.028423216	0.01077	0.01468776	0.00103	0.028425818	0.01077	-0.215	0.00434	T	0.12813416587484314	0.13229	0.059	0.00730	B	.;.;.	.;.;.	-0.915824	0.00899	0.033	0.20077987015303106	0.00706	0.00334	0.01740	N	AEFDBI	0.034030	0.04145	N	-1.6735694505846	0.00940	0.04070487	-1.5225632885494	0.02171	0.09945352	0.979593180960986	0.30044	0.549168	0.22868	0	0.627178	0.54094	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.09	2.34	0.28071	-0.244000	0.08921	.	.	-0.985000	0.01878	0.001000	0.13787	0.000000	0.08366	0.068000	0.16518	0.0:0.6923:0.1444:0.1633	6.692	0.22370	917	0.20147	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2397.98	36	chr6	32072218	.	T	C	2397.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.852;DP=889;ExcessHet=0.0000;FS=1.203;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.62;ReadPosRankSum=0.576;SOR=0.572	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1518	20	0	1	0
chr6	32084509	32084509	T	C	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon8:c.A3349G:p.I1117V	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.51	P	0.147	B	0.011	N	1.000	N	0.05	N	0.6	T	-0.940	T	0.022	T	0.141	-0.852	0.544	0.376	-0.076	0.061	7.727	0.083	0.00404409277271	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206170488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488	0.08042	T	0.223	0.25670	T	.	.	.	.	.	.	0.011090	0.29665	N	0.157455	1	0.08975	N	.	.	.	0.6	0.53731	T	-0.55	0.16799	N	0.161	0.16864	-0.9398	0.42648	T	0.022	0.09375	T	10	0.10542533	0.19487	T	0.004044	0.09618	T	0.083	0.24192	0.628	0.76366	0.082315109003	0.07666	.	.	.	.	0.376017332077	0.21691	T	0.049554	0.28342	T	-0.363473	0.03937	T	-0.590752	0.13601	T	0.178008481860161	0.19109	T	0.579042	0.20891	T	0.03490001	0.04007	0.03757916	0.03441	0.03490001	0.04007	0.03757916	0.03440	-2.443	0.05403	T	0.1244784940056053	0.12220	0.096	0.33527	B	.;.;.;.	.;.;.;.	0.203901	0.05883	2.323	0.40594767169986945	0.02875	0.01905	0.05835	N	AEFBI	0.067491	0.13270	N	-0.954541453763761	0.09591	0.4545985	-0.991296341291336	0.09980	0.4997959	0.999587630504933	0.40607	0.549168	0.22868	0	0.627178	0.54094	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	4.23	0.376	0.15424	0.055000	0.14112	.	.	-0.122000	0.13826	0.025000	0.20085	0.000000	0.08366	0.135000	0.19760	0.0:0.3643:0.0:0.6357	7.727	0.27930	911	0.21964	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	746.15	34	chr6	32084509	.	T	C	746.15	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.746e+00;DP=1306;ExcessHet=0.6776;FS=128.029;InbreedingCoeff=-0.1093;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=1.37;ReadPosRankSum=1.75;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485	17	0	4	0
chr6	32089253	32089253	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon5:c.G2485A:p.G829S	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	0	1487	34	1	0	36	0.0119601	.	.	1269701	Ehlers-Danlos_syndrome|not_provided|Cardiovascular_phenotype	MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:C3661900|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	1.0	D	1.0	D	0.000	D	1.000	D	0.27	N	0.0	T	-0.913	T	0.142	T	0.351	4.095	21.1	5.19	2.707	2.504	16.254	0.324	0.0506389190351	0.0002	0.000399361	0.0014	0.0001	0.0003	0.0002	0.0002	0.0004	0.0036	0.0084	0.0011643	180	154602	rs147172260	0.0008	0.0008	0.0006	0.0011	0.0077	0.0008	0.0008	0.0072	0.0070	0.0002	0.0002	0.0001	0.0002	5.952e-05	0.0052	0.0004	0.0010	0.0077	0.0004	0.0004	0.0003	0.0005	0.0052	0.0003	0.0003	0.0036	0.0031	4.814e-05	0	0.0001	0.0006	0	0	0	0.0004	0.0019	0.0052	0.613	0.05420	T	0.0	0.92824	D	.	.	.	.	.	.	0.000103	0.50451	D	0.000000	0.98473	0.40186	D	.	.	.	0.0	0.62608	T	-4.65	0.79399	D	0.497	0.53006	-0.9127	0.46518	T	0.142	0.46275	T	10	0.008799136	0.00199	T	0.050639	0.64325	D	0.324	0.64624	.	.	0.358461578395	0.35455	.	.	.	.	0.578430056572	0.49865	T	0.29263	0.66535	T	-0.386751	0.02823	T	-0.323752	0.42162	T	0.0958633468784397	0.11895	T	0.715628	0.54791	T	0.43143234	0.62846	0.43191615	0.66794	0.42014903	0.62102	0.42535052	0.66346	-5.497	0.41840	T	0.12625993868028798	0.12714	0.176	0.38498	B	.;.;.;.	.;.;.;.	4.109917	0.61346	24.3	0.99811975144416765	0.89531	0.92780	0.56527	D	AEFDBI	0.608898	0.59830	D	0.25693665237549	0.53982	3.565097	0.329674899078023	0.57291	3.89425	0.999999999999063	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.19	5.19	0.71428	2.800000	0.47595	.	.	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	16.254	0.82326	911	0.21964	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	630.98	43	chr6	32089253	.	C	T	630.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.43;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.86;ReadPosRankSum=0.055;SOR=0.754	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1244	20	0	1	0
chr6	32089372	32089372	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon5:c.G2366A:p.G789E	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	0	1484	38	0	0	38	0.0126414	.	.	1165791	Cardiovascular_phenotype|Ehlers-Danlos_syndrome|not_provided	MedGen:CN230736|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.7	T	1.0	D	1.0	D	.	.	1.000	N	0.55	N	0.4	T	-1.049	T	0.124	T	0.224	4.040	20.7	5.3	2.765	0.559	16.491	0.286	0.0145942807907	0.0002	0.000199681	0.0005	0	0.0009	0	0	0.0003	0.0031	0.0017	0.0003428	53	154602	rs367834992	0.0003	0.0003	0.0002	0.0003	0.0061	0.0002	0.0002	0.0045	0.0039	0.0001	0.0003	3.853e-05	0	1.977e-05	0.0061	0.0001	0.0005	0.0014	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0001	0.0004	0.0003	7.216e-05	0	0.0002	0	0	0	0.0034	0.0003	0.0009	0.0010	0.081	0.33418	T	0.018	0.59732	D	.	.	.	.	.	.	.	.	.	.	0.566953	0.31210	N	.	.	.	0.4	0.57261	T	-2.79	0.59059	D	0.536	0.56403	-1.0489	0.14705	T	0.124	0.42778	T	9	0.028067172	0.00944	T	0.014594	0.34806	T	0.286	0.60456	.	.	0.327946701059	0.32395	.	.	.	.	0.660463988781	0.61476	T	0.09056	0.38610	T	-0.444445	0.01218	T	-0.430205	0.29913	T	0.112639013446134	0.13695	T	0.777822	0.41150	T	0.25686014	0.48728	0.41285133	0.65475	0.26063287	0.49119	0.42123428	0.66062	-10.377	0.76137	D	0.12625993868028798	0.12714	0.114	0.22500	B	.;.;.	.;.;.	4.385162	0.67628	25.1	0.99795651901731497	0.88106	0.46322	0.27734	N	AEFBHI	0.243202	0.36452	N	0.191514843712535	0.50792	3.26588	0.21480015343165	0.50668	3.256501	0.999999963118828	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.3	5.3	0.74745	2.713000	0.46862	.	.	0.599000	0.40250	0.987000	0.36337	1.000000	0.68203	0.909000	0.44452	0.0:1.0:0.0:0.0	16.491	0.84046	911	0.21964	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	584.98	43	chr6	32089372	.	C	T	584.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.407;DP=777;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.62;ReadPosRankSum=-3.670e-01;SOR=0.660	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr6	32096097	32096097	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon3:c.G1756A:p.G586S	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2414175	Vesicoureteral_reflux_8	MONDO:MONDO:0014422,MedGen:C4014831,OMIM:615963,Orphanet:289365	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.58	T	0.601	P	0.086	B	0.438	N	0.966	N	-1.22	N	3.92	T	-0.970	T	0.001	T	0.163	-0.173	3.156	-1.62	-1.067	-0.690	11.358	0.073	0.00510465906866	.	.	0.0002	0	0	0	0	0	0	0.0010	8.41e-05	13	154602	rs563266055	5.559e-05	5.541e-05	3.003e-05	8.144e-05	0.0009	4.558e-05	4.169e-05	0.0007	0.0007	0	0	0	0	0	0	2.701e-06	6.642e-05	0.0009	3.281e-05	3.28e-05	1.284e-05	5.368e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.685	0.04366	T	0.139	0.33666	T	.	.	.	.	.	.	0.438134	0.12662	N	0.678460	0.999996	0.08975	N	.	.	.	3.92	0.03462	T	-0.93	0.38345	N	0.076	0.05037	-0.9698	0.37242	T	0.001	0.00348	T	10	0.011282504	0.00247	T	0.005105	0.12939	T	0.073	0.21317	0.221	0.14371	0.151262610727	0.14761	.	.	.	.	0.370251119137	0.20868	T	0.120285	0.44242	T	-0.590093	0.00167	T	-0.700931	0.05775	T	0.0389853943219919	0.03507	T	0.653735	0.26383	T	0.021734936	0.00792	0.057989962	0.10639	0.021734936	0.00792	0.057989962	0.10639	-4.156	0.26112	T	0.12320370381539755	0.11907	0.051	0.00780	B	.;.;.;.;.	.;.;.;.;.	-0.081236	0.03754	0.781	0.85497595066450638	0.15929	0.03355	0.08444	N	AEFDBI	0.077627	0.15643	N	-1.71057197920791	0.00805	0.03478754	-1.72286740697513	0.01040	0.04666146	0.99996018897327	0.48965	0.764865	0.99124	0	0.628146	0.54582	0	0.731555	0.93304	0	0.562822	0.20929	0	.	.	4.23	-1.62	0.07926	-1.710000	0.01988	.	.	-1.164000	0.01408	0.000000	0.06391	0.000000	0.08366	0.099000	0.18236	0.0:0.6025:0.0:0.3975	11.358	0.48867	906	0.23090	EGF-like domain;.;EGF-like domain;EGF-like domain;EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3602.98	70	chr6	32096097	.	C	T	3602.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=1173;ExcessHet=0.0000;FS=2.493;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=-3.390e-01;SOR=0.560	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1264	20	0	1	0
chr6	32129698	32129698	T	C	exonic	FKBPL	.	nonsynonymous SNV	FKBPL:NM_022110:exon2:c.A83G:p.N28S,	.	.	0	1469	52	1	0	54	0.0180481	.	.	3220457	FKBPL-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.03	D	0.118	B	0.017	B	0.881	N	1.000	N	0.695	N	-1.33	T	-0.904	T	0.154	T	0.031	1.016	9.149	3.03	0.624	0.354	6.979	0.102	.	0.0034	0.0105831	0.0063	0.0065	0.0049	0.0301	0.0009	0.0027	0.0055	0.0116	0.0060219	931	154602	rs117160266	0.0043	0.0043	0.0042	0.0045	0.0147	0.0042	0.0042	0.0137	0.0133	0.0050	0.0056	0.0008	0.0147	0.0009	0.0075	0.0035	0.0044	0.0118	0.0045	0.0045	0.0045	0.0045	0.0176	0.0042	0.0041	0.0147	0.0136	0.0063	0.0044	0.0046	0.0003	0.0176	0.0006	0.0102	0.0027	0.0057	0.0108	0.146	0.25055	T	0.536	0.09897	T	0.118	0.26577	B	0.017	0.18140	B	0.881190	0.08754	N	0.940554	1	0.08975	N	1.04	0.26193	L	-1.33	0.79854	T	-0.45	0.14782	N	0.112	0.09914	-0.9037	0.47595	T	0.154	0.48516	T	10	0.003453523	0.00061	T	.	.	.	0.102	0.29158	.	.	0.964397502001	0.96401	0.12206054170897931	0.12133	0.343234087858	0.36255	0.339676707983	0.16389	T	0.001858	0.01270	T	-0.560478	0.00252	T	-0.557592	0.16603	T	0.00333949956713115	0.00035	T	0.476552	0.14308	T	0.03655549	0.04519	0.05028008	0.07861	0.03655549	0.04518	0.05028008	0.07861	-3.286	0.13558	T	.	.	0.098	0.16275	B	.	.	0.649570	0.10179	6.921	0.65107643235153789	0.07679	0.03055	0.07955	N	AEFGBHCI	0.070669	0.14039	N	-0.860103146306415	0.11801	0.5715824	-0.884630442497938	0.12457	0.6409084	0.999979226538229	0.50053	0.542737	0.22433	0	0.516746	0.08562	0	0.685571	0.62057	0	0.627883	0.49187	0	.	.	4.23	3.03	0.34070	0.352000	0.19851	.	.	0.665000	0.62972	0.001000	0.13787	0.003000	0.18671	0.472000	0.28386	0.202:0.0:0.0:0.798	6.979	0.23874	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1680.98	34	chr6	32129698	.	T	C	1680.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.693;DP=885;ExcessHet=0.0000;FS=1.283;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.28;ReadPosRankSum=-7.210e-01;SOR=0.586	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1284	20	0	1	0
chr6	32182963	32182963	G	T	exonic	AGER	.	stopgain	AGER:NM_001136:exon6:c.C569A:p.S190X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	4.587	24.9	5.3	2.491	4.720	14.453	.	.	.	.	8.606e-06	0	0	0	0	1.58e-05	0	0	6.5e-06	1	154602	rs766063160	6.162e-06	6.156e-06	5.45e-06	6.881e-06	0.0003	2.9e-06	2.1e-06	6.107e-05	2.527e-05	0	0	0	0	0	0.0003	6.295e-06	0	0	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000081	0.52346	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.851	0.84713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436705	0.91863	D	0.38952	0.91763	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;Recessive;.;.;.	.;.;.;.;High;.;.;.	8.387534	0.97504	37	0.99316928179798991	0.59241	0.90109	0.51032	D	AEFBCI	0.052838	0.09468	N	0.704024676738869	0.79898	7.175712	0.538862912005789	0.70627	5.532966	0.999999975832824	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.3	5.3	0.74745	5.073000	0.64223	.	.	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.880000	0.42090	0.0:0.0:1.0:0.0	14.453	0.66971	929	0.16858	.;.;.;.;CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain;CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain;CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain;CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1574.98	33	chr6	32182963	.	G	T	1574.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.250e-01;DP=1137;ExcessHet=0.0000;FS=0.679;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=-4.790e-01;SOR=0.789	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1261	20	0	1	0
chr6	32183681	32183681	G	A	exonic	AGER	.	nonsynonymous SNV	AGER:NM_001136:exon3:c.C229T:p.R77C	.	.	425	1046	47	4	0	55	0.0256171	.	.	699533	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.982	D	0.020	N	0.998	N	2.015	M	2.59	T	-1.022	T	0.116	T	0.627	3.609	18.37	4.92	2.755	2.062	12.408	0.210	.	0.0038	0.00379393	0.0062	0.0010	0.0030	0.0012	0.0014	0.0069	0.0069	0.0129	0.0057244	885	154602	rs80096349	0.0060	0.0060	0.0057	0.0063	0.0713	0.0059	0.0059	0.0656	0.0633	0.0011	0.0032	0.0196	0.0008	0.0015	0.0713	0.0055	0.0075	0.0119	0.0040	0.0040	0.0041	0.0040	0.0089	0.0038	0.0037	0.0068	0.0061	0.0008	0	0.0033	0.0170	0.0017	0.0011	0.0510	0.0053	0.0142	0.0089	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.975	0.73362	D	0.019678	0.27206	N	0.264487	0.997812	0.44218	D	2.555	0.74557	M	2.59	0.76819	T	-3.62	0.74504	D	0.653	0.66358	-1.0224	0.22932	T	0.116	0.41075	T	10	0.009007782	0.00204	T	.	.	.	0.210	0.50028	.	.	0.83781652485	0.83627	0.5061502679306237	0.50537	0.74405189753	0.63417	0.336748540401	0.15951	T	0.125662	0.51579	T	-0.214647	0.18729	T	-0.0707143	0.65576	T	0.0275203706682035	0.01619	T	0.990061	0.96935	D	0.4854292	0.66228	0.12334502	0.29743	0.4854292	0.66229	0.12334502	0.29742	-9.116	0.68440	D	.	.	0.244	0.47827	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.613194	0.73176	25.9	0.99928084643267145	0.99222	0.34279	0.25030	N	AEFDBCI	0.132251	0.25148	N	0.418674211724003	0.62448	4.461013	0.33590809541981	0.57662	3.932906	0.999999993790173	0.74766	0.634777	0.41761	0	0.552637	0.17590	0	0.643519	0.47002	0	0.508809	0.08732	0	.	.	5.82	4.92	0.64147	2.130000	0.41687	.	.	0.618000	0.50648	0.090000	0.22578	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8334:0.1665	12.408	0.54783	929	0.16858	.;.;.;.;.;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1360.98	65	chr6	32183681	.	G	A	1360.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.440e-01;DP=1240;ExcessHet=0.0000;FS=0.704;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=-5.700e-02;SOR=0.616	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1261	20	0	1	0
chr6	32189822	32189822	G	C	exonic	PBX2	.	nonsynonymous SNV	PBX2:NM_002586:exon1:c.C94G:p.P32A,	.	.	1	224	1	0	0	1	0.00222717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.012	B	0.003	B	0.340	N	0.840	N	0	N	-1.6	D	-1.021	T	0.085	T	0.298	2.454	14.17	2.2	0.343	5.835	4.065	0.252	0.321754005768	.	.	2.067e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs769164458	6.971e-06	8.21e-06	6.932e-06	7.01e-06	0.0002	3.53e-06	2.57e-06	3.168e-05	1.86e-05	0	9.301e-05	0	0	0	0.0002	3.644e-06	0	1.191e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.16520	T	0.56	0.09113	T	0.0	0.02946	B	0.0	0.01387	B	0.340035	0.13978	N	0.589034	0.840006	0.28644	N	0	0.06538	N	-1.6	0.82165	D	-0.38	0.13418	N	0.372	0.41360	-1.0210	0.23389	T	0.085	0.33043	T	10	0.119935244	0.22706	T	0.321754	0.91495	D	0.252	0.56159	0.128	0.03331	0.606721431492	0.60357	0.2916463142253161	0.29077	0.684356733275	0.60216	0.876013994217	0.93416	D	0.097644	0.40067	T	-0.176194	0.24305	T	-0.254198	0.49402	T	0.0439553001066951	0.04412	T	.	.	.	0.059323758	0.12043	0.07257288	0.15673	0.059323758	0.12043	0.07257288	0.15672	-4.258	0.27584	T	.	.	0.048	0.00092	B	.	.	3.139296	0.42451	21.5	0.94831119721266477	0.25611	0.24938	0.22547	N	AEFDBHCI	0.181304	0.30862	N	-0.571011490516086	0.19830	1.040887	-0.380794724056646	0.25570	1.407005	0.999965745332834	0.48965	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.581474	0.35302	0	.	.	4.04	2.2	0.26966	2.763000	0.47287	.	.	0.565000	0.28586	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2177:0.1973:0.585:0.0	4.065	0.09336	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	942.98	38	chr6	32189822	.	G	C	942.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.88;DP=785;ExcessHet=0.0000;FS=3.139;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=0.00;QD=12.09;ReadPosRankSum=0.430;SOR=1.097	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1100	20	0	1	0
chr6	32192154	32192154	G	C	exonic	GPSM3	.	nonsynonymous SNV	GPSM3:NM_001276501:exon2:c.C139G:p.H47D	.	.	410	1060	48	4	0	56	0.0257353	.	.	699536	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.26	T	0.001	B	0.004	B	0.357	U	0.788	N	0.55	N	.	.	-1.023	T	0.025	T	0.256	-0.992	0.273	1.81	0.709	1.481	6.930	0.023	.	0.0073	0.0061901	0.0066	0.0098	0.0060	0.0012	0.0013	0.0069	0.0091	0.0108	0.0058925	911	154602	rs148125791	0.0067	0.0066	0.0064	0.0069	0.0808	0.0066	0.0065	0.0744	0.0718	0.0087	0.0067	0.0203	0.0008	0.0015	0.0808	0.0060	0.0089	0.0117	0.0070	0.0070	0.0068	0.0072	0.0091	0.0067	0.0065	0.0080	0.0077	0.0088	0	0.0076	0.0179	0.0017	0.0011	0.0680	0.0059	0.0180	0.0091	0.084	0.32929	T	0.831	0.03852	T	0.001	0.07471	B	0.004	0.10090	B	0.356866	0.13730	U	0.619103	0.788139	0.29257	N	0.805	0.20218	L	.	.	.	0.09	0.06138	N	0.304	0.42050	-1.0233	0.22638	T	0.025	0.10553	T	9	0.004505217	0.00093	T	.	.	.	0.023	0.04649	.	.	0.043077524339	0.03247	0.20364634683512572	0.20281	0.62489570063	0.56679	0.689792633057	0.65676	T	0.013766	0.11844	T	-0.486729	0.00677	T	-0.461541	0.26431	T	0.0015793075113103	0.00016	T	0.59504	0.22051	T	0.07228547	0.16068	0.070643276	0.15035	0.07228547	0.16067	0.070643276	0.15034	-2.883	0.08974	T	.	.	0.097	0.15921	B	.;.;.	.;.;.	1.395790	0.18093	13.54	0.54812258607588749	0.05213	0.28990	0.23703	N	AEFDBHCI	0.298807	0.40802	N	-0.977740949507368	0.09080	0.4283037	-0.945021066886185	0.11039	0.5599214	0.999999359385914	0.74766	0.489673	0.17934	0	0.52208	0.09955	0	0.584781	0.30282	0	0.662433	0.64102	0	.	.	2.69	1.81	0.24139	0.980000	0.29111	.	.	-0.191000	0.09375	0.048000	0.21332	0.426000	0.24831	0.823000	0.38780	0.0:0.0:0.7268:0.2732	6.930	0.23615	934	0.15400	.;.;.	.	.	.	.	rs148125791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	435.98	33	chr6	32192154	.	G	C	435.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.751;DP=770;ExcessHet=0.0000;FS=2.296;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.79;ReadPosRankSum=-5.670e-01;SOR=0.951	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1260	20	0	1	0
chr6	32220591	32220591	G	A	exonic	NOTCH4	.	nonsynonymous SNV	NOTCH4:NM_004557:exon6:c.C973T:p.H325Y,	.	.	411	1103	8	0	0	8	0.00361337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.842	P	0.646	P	0.322	N	1.000	N	0.49	N	-2.83	D	-0.358	T	0.488	T	0.141	1.611	11.35	3.78	2.428	2.388	10.223	0.274	0.0369331072006	.	0.000599042	0.0005	0	0.0003	0	0	3.141e-05	0	0.0035	0.0004528	70	154602	rs551594218	0.0003	0.0003	9.938e-05	0.0004	0.0042	0.0002	0.0002	0.0038	0.0037	0	0	0	0	0	0.0016	7.194e-06	0.0002	0.0042	0.0002	0.0002	5.149e-05	0.0003	0.0050	0.0001	9.715e-05	0.0034	0.0029	2.411e-05	0	0	0	0	0	0	0	0	0.0050	0.033	0.44358	D	0.431	0.13673	T	0.002	0.09854	B	0.001	0.04355	B	0.321957	0.14256	N	0.591628	1	0.08975	N	0	0.06538	N	-2.83	0.91249	D	-0.64	0.18670	N	0.205	0.22742	-0.3582	0.73316	T	0.488	0.80510	T	10	0.021208644	0.00503	T	0.036933	0.57305	D	0.274	0.59007	0.625	0.76028	0.905669315895	0.90473	0.6806792221227372	0.68006	0.347817437779	0.36664	0.274398058653	0.06724	T	0.17478	0.52412	T	-0.372636	0.03462	T	-0.30888	0.43778	T	0.0819108051198407	0.10231	T	0.278472	0.04815	T	0.07605142	0.17173	0.15553153	0.36453	0.07605142	0.17173	0.15553153	0.36453	-8.6	0.65089	D	.	.	0.076	0.06114	B	.	.	2.999817	0.40076	21.1	0.99149528863820102	0.53765	0.36138	0.25464	N	AEFBI	0.229213	0.35277	N	-0.220548914196348	0.32291	1.819542	-0.179576242476191	0.32288	1.835475	0.655155283854017	0.22209	0.562547	0.31514	0	0.59043	0.45803	0	0.573078	0.19857	0	0.635551	0.53088	0	.	.	4.69	3.78	0.42629	1.745000	0.37904	.	.	0.618000	0.50648	0.093000	0.22645	0.999000	0.35428	0.378000	0.26290	0.0:0.0:0.8034:0.1966	10.223	0.42382	934	0.15400	EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1691.98	93	chr6	32220591	.	G	A	1691.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.540e-01;DP=1937;ExcessHet=0.0000;FS=0.662;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.64;ReadPosRankSum=-1.980e-01;SOR=0.621	GT:AD:DP:GQ:PL	0/0:132,0:132:99:0,120,1800	20	0	1	0
chr6	32223891	32223893	AGC	-	exonic	NOTCH4	.	nonframeshift deletion	NOTCH4:NM_004557:exon1:c.36_38del:p.L16del,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	0/1:17,18,0,0,0:35:99:688,0,637,739,692,1431,739,692,1431,1431,739,692,1431,1431,1431	0	1	4	0
chr6	32223893	32223893	-	AGCAGCAGC	exonic	NOTCH4	.	nonframeshift insertion	NOTCH4:NM_004557:exon1:c.35_36insGCTGCTGCT:p.L16_C17insLLL,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	0/1:17,18,0,0,0:35:99:688,0,637,739,692,1431,739,692,1431,1431,739,692,1431,1431,1431	0	1	4	0
chr6	32223893	32223893	-	AGC	exonic	NOTCH4	.	nonframeshift insertion	NOTCH4:NM_004557:exon1:c.35_36insGCT:p.L16_C17insL,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	0/1:17,18,0,0,0:35:99:688,0,637,739,692,1431,739,692,1431,1431,739,692,1431,1431,1431	0	1	4	0
chr6	32335930	32335930	C	T	exonic	TSBP1	.	nonsynonymous SNV	TSBP1:NM_001286475:exon13:c.G364A:p.G122R	.	.	430	1053	35	4	0	43	0.0200093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	0.994	N	0.805	L	3.41	T	-0.930	T	0.007	T	0.282	1.521	11.04	2.09	0.833	0.891	6.173	0.042	.	0.0023	0.0107827	0.0093	0.0008	0.0190	0.0158	0.0255	0.0041	0.0162	0.0170	0.0088679	1371	154602	rs139993810	0.0064	0.0066	0.0063	0.0066	0.0196	0.0063	0.0063	0.0185	0.0181	0.0012	0.0196	0.0027	0.0138	0.0205	0.0158	0.0038	0.0154	0.0181	0.0067	0.0067	0.0059	0.0076	0.0197	0.0064	0.0062	0.0166	0.0154	0.0013	0.0011	0.0130	0.0032	0.0197	0.0266	0.0034	0.0040	0.0142	0.0145	0.003	0.68238	D	0.019	0.59159	D	.	.	.	.	.	.	.	.	.	.	0.997147	0.23606	N	.	.	.	3.41	0.05574	T	-2.93	0.61284	D	0.252	0.43899	-0.9298	0.44168	T	0.007	0.02282	T	7	0.0052653253	0.00115	T	.	.	.	0.042	0.11227	0.214	0.13354	.	.	0.06775107962844537	0.06713	0.369240680333	0.38451	.	.	.	.	.	.	-0.561488	0.00249	T	-0.564379	0.15969	T	0.0414496540811556	0.03954	T	0.676832	0.28664	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.55549	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.506794	0.70541	25.5	0.99415298787707362	0.63501	0.58008	0.30527	D	AEFI	0.167644	0.29433	N	-0.0615019390084884	0.39091	2.299705	-0.168684592006031	0.32696	1.862731	2.87057104956723E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	2.96	2.09	0.26154	0.913000	0.28233	.	.	-0.865000	0.02600	1.000000	0.71638	1.000000	0.68203	0.257000	0.23443	0.0:0.8587:0.0:0.1413	6.173	0.19644	934	0.15400	.;.;.;.;.;.;.	.	.	.	.	rs139993810	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	353.98	37	chr6	32335930	.	C	T	353.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.379e+00;DP=802;ExcessHet=0.0000;FS=2.367;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.56;ReadPosRankSum=1.00;SOR=0.412	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1134	20	0	1	0
chr6	32349791	32349791	G	A	exonic	TSBP1	.	nonsynonymous SNV	TSBP1:NM_006781:exon9:c.C298T:p.L100F,	.	.	431	1053	34	4	0	42	0.0195531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.662	P	0.204	B	.	.	1.000	N	0.895	L	3.38	T	-0.913	T	0.004	T	0.418	1.418	10.68	0.709	0.131	0.323	4.106	0.048	.	0.0023	0.0105831	0.0090	0.0008	0.0175	0.0156	0.0253	0.0040	0.0160	0.0169	0.0087127	1347	154602	rs79044345	0.0064	0.0065	0.0063	0.0066	0.0189	0.0063	0.0063	0.0178	0.0174	0.0012	0.0189	0.0027	0.0138	0.0206	0.0155	0.0038	0.0154	0.0183	0.0067	0.0067	0.0058	0.0076	0.0197	0.0063	0.0062	0.0166	0.0154	0.0013	0.0011	0.0130	0.0032	0.0197	0.0263	0.0034	0.0040	0.0142	0.0145	0.051	0.91255	T	0.303	0.20164	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.38	0.05778	T	-0.15	0.10308	N	0.124	0.17278	-0.9131	0.46467	T	0.004	0.01330	T	8	0.0035131574	0.00063	T	.	.	.	0.048	0.13305	.	.	0.0806252709748	0.07271	0.03652289036496629	0.03599	0.868342382755	0.69304	.	.	.	.	.	.	-0.507272	0.00520	T	-0.487157	0.23689	T	0.014561251023395	0.00298	T	0.511449	0.17993	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.38782	B	.;.;.;.	.;.;.;.	0.527122	0.08959	5.740	0.99703285299393041	0.80798	0.04503	0.10125	N	AEFDBI	0.043577	0.06905	N	-0.618116652917595	0.18400	0.9549886	-0.712612391797401	0.16647	0.8816196	8.31050451307236E-5	0.04703	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.65	0.709	0.17307	0.345000	0.19720	.	.	0.674000	0.70861	0.017000	0.19353	0.379000	0.24607	0.625000	0.32026	0.1155:0.0:0.4702:0.4143	4.106	0.09507	934	0.15400	.;.;.;.	.	.	.	.	rs117823268	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1461.98	50	chr6	32349791	.	G	A	1461.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.53;DP=1102;ExcessHet=0.0000;FS=0.664;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=-1.059e+00;SOR=0.781	GT:AD:DP:GQ:PL	0/0:73,0:73:99:0,120,1800	20	0	1	0
chr6	32405014	32405014	C	T	exonic	BTNL2	.	nonsynonymous SNV	BTNL2:NM_001304561:exon2:c.G352A:p.D118N,	.	.	421	1020	78	3	0	84	0.039548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.17	B	0.058	B	0.000	D	1.000	N	3.315	M	-2.3	D	-0.091	T	0.592	D	0.36	2.009	12.67	4.91	2.755	4.749	16.143	0.474	.	0.0062	0.00439297	0.0111	0.0009	0.0104	0.0005	0.0005	0.0154	0.0206	0.0100	0.0101034	1562	154602	rs143211074	0.0082	0.0082	0.0077	0.0087	0.0579	0.0081	0.0080	0.0528	0.0508	0.0010	0.0129	0.1297	0.0002	0.0003	0.0579	0.0051	0.0175	0.0105	0.0095	0.0095	0.0091	0.0100	0.0184	0.0091	0.0090	0.0166	0.0159	0.0010	0.0351	0.0184	0.1454	0.0015	0.0005	0.0374	0.0069	0.0213	0.0101	0.018	0.50676	D	0.005	0.72224	D	0.17	0.28703	B	0.058	0.26451	B	0.000214	0.47681	D	0.000000	1	0.81001	D	3.75	0.95014	H	-2.3	0.87671	D	-3.92	0.73151	D	0.804	0.79986	-0.0913	0.80298	T	0.592	0.85408	D	10	0.0039207637	0.00075	T	.	.	.	0.474	0.76685	.	.	.	.	0.6442538995369435	0.64360	0.759485905604	0.64176	0.556377768517	0.46756	T	0.125532	0.45130	T	-0.236106	0.15849	T	-0.0983005	0.63528	T	0.0876847104608261	0.10940	T	.	.	.	0.47867396	0.65820	0.461523	0.68731	0.47867396	0.65821	0.461523	0.68731	-7.326	0.56380	T	.	.	0.168	0.37005	B	.;.	.;.	3.349719	0.46200	22.3	0.99564600918578816	0.72014	0.81899	0.41213	D	AEFDBI	0.519369	0.54468	D	0.0408323083134688	0.43721	2.659608	0.0114731822199794	0.40248	2.398883	0.443686818642509	0.20475	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.91	4.91	0.63897	5.474000	0.66508	.	.	0.541000	0.25215	0.998000	0.41325	1.000000	0.68203	0.014000	0.10232	0.0:1.0:0.0:0.0	16.143	0.81356	934	0.15400	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype	NOTCH4|AGER|AGER|NOTCH4|NOTCH4|AGER|AGER|AGER|HLA-DQA1|NOTCH4|AGER	Adipose_Visceral_Omentum|Artery_Aorta|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Muscle_Skeletal|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Whole_Blood	HLA-DQA1|HLA-DQA2	Ovary|Ovary	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	16283.53	159	chr6	32405014	.	C	T	16283.53	.	AC=7;AF=0.167;AN=42;BaseQRankSum=0.568;DP=1620;ExcessHet=0.2785;FS=2.492;InbreedingCoeff=0.1429;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=16.57;ReadPosRankSum=0.822;SOR=0.539	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1245	15	1	5	0
chr6	32443853	32443853	C	G	exonic	HLA-DRA	.	nonsynonymous SNV	HLA-DRA:NM_019111:exon4:c.C708G:p.I236M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.868	P	0.682	P	0.023	N	1.000	N	2.18	M	4.8	T	-0.951	T	0.006	T	0.262	1.437	10.75	1.51	0.387	0.692	5.216	0.031	0.00553422629597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0019	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	0.0002	2.251e-05	3.852e-05	5.054e-05	0	0.0002	0.0002	0.0001	4.682e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.049	0.48336	D	0.868	0.47740	P	0.534	0.48679	P	0.022538	0.26616	N	0.440036	1	0.08975	N	.	.	.	4.52	0.01997	T	-1.48	0.38151	N	0.272	0.36148	-0.9512	0.40765	T	0.006	0.02168	T	10	0.18965468	0.34574	T	0.005534	0.14258	T	0.031	0.07369	0.423	0.46693	0.285775778912	0.28195	0.40217806261540645	0.40133	0.978554424983	0.73646	0.351977914572	0.18212	T	0.017956	0.14556	T	-0.187692	0.22597	T	-0.507383	0.21586	T	0.568630933761597	0.35182	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.37727	B	.;.	.;.	2.465798	0.31770	18.84	0.99386995428342506	0.62157	0.11209	0.16481	N	AEFGBHCI	0.629542	0.61122	D	-0.253195381785185	0.30976	1.732382	-0.431463029269619	0.24079	1.316614	0.999998429225293	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	5.36	1.51	0.22094	1.124000	0.30934	.	.	0.539000	0.25131	0.280000	0.25141	0.000000	0.08366	0.356000	0.25796	0.0:0.5975:0.1492:0.2533	5.216	0.14664	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05	172.04	102	chr6	32443853	.	C	G	172.04	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-5.462e+00;DP=2926;ExcessHet=0.1072;FS=311.949;InbreedingCoeff=-0.0698;MLEAC=2;MLEAF=0.050;MQ=60.00;MQRankSum=0.00;QD=0.45;ReadPosRankSum=2.03;SOR=10.536	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,120,1800	18	0	2	1
chr6	32519649	32519654	CAACTA	-	exonic	HLA-DRB5	.	nonframeshift deletion	HLA-DRB5:NM_002125:exon3:c.371_373del:p.V124del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.676e-05	0	0	0	0	4.812e-05	0	0	5.17e-05	8	154602	rs779212605	2.889e-05	0.0065	2.774e-05	3.001e-05	8.105e-05	1.759e-05	1.438e-05	1.397e-05	1.121e-05	8.105e-05	5.291e-05	0.0002	0	3.465e-05	0	2.606e-05	3.646e-05	0	0	0.0039	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	114.99	38	chr6	32519648	.	TCAACTA	T	114.99	.	AC=2;AF=0.063;AN=32;DP=509;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.9357;MLEAC=1;MLEAF=0.031;MQ=31.93;QD=28.47;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	./.	15	1	0	5
chr6	32519649	32519649	C	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	9579.39	39	chr6	32519649	.	C	A,*	9579.39	.	AC=12,2;AF=0.375,0.063;AN=32;BaseQRankSum=4.43;DP=516;ExcessHet=0.0001;FS=2.640;InbreedingCoeff=0.7460;MLEAC=15,1;MLEAF=0.469,0.031;MQ=45.21;MQRankSum=4.41;QD=30.44;ReadPosRankSum=-1.495e+00;SOR=1.344	GT:AD:DP:GQ:PGT:PID:PL:PS	./.	8	5	2	5
chr6	32519650	32519650	A	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	9378.63	38	chr6	32519650	.	A	G,*	9378.63	.	AC=12,2;AF=0.375,0.063;AN=32;BaseQRankSum=3.57;DP=510;ExcessHet=0.0001;FS=2.644;InbreedingCoeff=0.7460;MLEAC=15,1;MLEAF=0.469,0.031;MQ=45.16;MQRankSum=4.36;QD=31.47;ReadPosRankSum=-1.495e+00;SOR=1.346	GT:AD:DP:GQ:PGT:PID:PL:PS	./.	8	5	2	5
chr6	32521970	32521970	G	0	exonic	HLA-DRB5	.	.	.	.	.	128	791	65	0	538	603	0.0394657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	2340.92	49	chr6	32521970	.	G	GCC,*	2340.92	.	AC=2,14;AF=0.048,0.333;AN=42;BaseQRankSum=4.87;DP=2985;ExcessHet=0.3152;FS=19.972;InbreedingCoeff=0.1923;MLEAC=2,14;MLEAF=0.048,0.333;MQ=57.72;MQRankSum=-1.101e+01;QD=1.39;ReadPosRankSum=-6.282e+00;SOR=1.161	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:180,0,0:180:99:.:.:0,120,1800,120,1800,1800	9	0	2	0
chr6	32521977	32521978	TG	0	exonic	HLA-DRB5	.	.	.	.	.	68	790	259	133	272	797	0.249406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	31947.07	20	chr6	32521977	.	TG	T,CG,*,TCCG	31947.07	.	AC=10,5,5,2;AF=0.238,0.119,0.119,0.048;AN=42;BaseQRankSum=2.83;DP=2813;ExcessHet=0.0007;FS=6.870;InbreedingCoeff=0.6182;MLEAC=10,5,5,2;MLEAF=0.238,0.119,0.119,0.048;MQ=49.85;MQRankSum=-1.379e+00;QD=24.07;ReadPosRankSum=-3.581e+00;SOR=0.940	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,6,163,0,0:169:99:.:.:7290,7046,7065,491,239,0,7296,7067,491,7313,7296,7067,491,7313,7313	8	2	3	0
chr6	32521978	32521979	GT	0	exonic	HLA-DRB5	.	.	.	.	.	198	662	145	14	503	676	0.115564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	3841.37	20	chr6	32521978	.	GT	G,*	3841.37	.	AC=4,17;AF=0.100,0.425;AN=40;BaseQRankSum=4.25;DP=2847;ExcessHet=0.7352;FS=10.579;InbreedingCoeff=0.1102;MLEAC=4,18;MLEAF=0.100,0.450;MQ=55.69;MQRankSum=-5.960e+00;QD=2.22;ReadPosRankSum=-4.343e+00;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:0,0,6:169:19:.:.:244,250,267,0,21,19	5	0	4	1
chr6	32521981	32521981	T	0	exonic	HLA-DRB5	.	.	.	.	.	195	584	309	195	239	938	0.374397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	29160.55	20	chr6	32521981	.	T	TGC,C,*	29160.55	.	AC=15,3,4;AF=0.375,0.075,0.100;AN=40;BaseQRankSum=0.770;DP=2811;ExcessHet=1.5433;FS=18.058;InbreedingCoeff=0.0082;MLEAC=16,3,4;MLEAF=0.400,0.075,0.100;MQ=49.06;MQRankSum=-4.980e-01;QD=15.25;ReadPosRankSum=-1.678e+00;SOR=1.050	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:152,0,0,0:152:99:.:.:0,120,1800,120,1800,1800,120,1800,1800,1800	4	5	4	1
chr6	32522104	32522104	G	0	exonic	HLA-DRB5	.	.	.	.	.	223	868	2	0	429	431	0.00115075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	754.62	135	chr6	32522104	.	G	T,*	754.62	.	AC=2,9;AF=0.053,0.237;AN=38;BaseQRankSum=1.88;DP=2410;ExcessHet=0.5777;FS=19.455;InbreedingCoeff=0.1270;MLEAC=2,10;MLEAF=0.053,0.263;MQ=43.31;MQRankSum=-5.040e-01;QD=1.10;ReadPosRankSum=-2.490e+00;SOR=1.779	GT:AD:DP:GQ:PGT:PID:PL:PS	./.	10	0	2	2
chr6	32522156	32522156	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	50186.86	152	chr6	32522156	.	T	A,G,*,C	50186.86	.	AC=14,6,6,1;AF=0.368,0.158,0.158,0.026;AN=38;BaseQRankSum=-2.391e+00;DP=2479;ExcessHet=0.0000;FS=4.483;InbreedingCoeff=0.8143;MLEAC=15,7,7,1;MLEAF=0.395,0.184,0.184,0.026;MQ=47.59;MQRankSum=-1.347e+01;QD=31.15;ReadPosRankSum=3.03;SOR=0.362	GT:AD:DP:GQ:PGT:PID:PL:PS	1|3:0,21,0,25,0:46:99:0|1:32522156_T_*:1932,1050,987,1932,1050,1932,882,0,882,807,1932,1050,1932,882,1932:32522156	5	1	0	2
chr6	32522157	32522157	C	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	11250.32	146	chr6	32522157	.	C	G,*	11250.32	.	AC=10,6;AF=0.250,0.150;AN=40;BaseQRankSum=-1.800e-01;DP=2451;ExcessHet=0.0017;FS=0.000;InbreedingCoeff=0.5718;MLEAC=10,7;MLEAF=0.250,0.175;MQ=47.72;MQRankSum=-1.968e+00;QD=12.26;ReadPosRankSum=3.14;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,21,25:46:99:0|1:32522156_T_*:1932,1050,987,882,0,807:32522156	10	1	3	1
chr6	32522159	32522159	T	0	exonic	HLA-DRB5	.	.	.	.	.	220	823	360	108	11	587	0.259226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	11366.22	146	chr6	32522159	.	T	*,A	11366.22	.	AC=7,9;AF=0.167,0.214;AN=42;BaseQRankSum=-3.000e-01;DP=2451;ExcessHet=0.0011;FS=0.000;InbreedingCoeff=0.5934;MLEAC=6,10;MLEAF=0.143,0.238;MQ=47.73;MQRankSum=-1.671e+00;QD=12.50;ReadPosRankSum=3.36;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,26,21:47:99:0|1:32522156_T_*:1974,882,804,1092,0,1029:32522156	11	0	2	0
chr6	32530183	32530185	CTT	0	exonic	HLA-DRB5	.	.	.	.	.	1	58	89	55	23	222	0.631746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14818.53	115	chr6	32530183	.	CTT	*,C	14818.53	.	AC=5,17;AF=0.119,0.405;AN=42;BaseQRankSum=2.59;DP=2163;ExcessHet=0.2144;FS=6.037;InbreedingCoeff=0.1918;MLEAC=5,18;MLEAF=0.119,0.429;MQ=53.28;MQRankSum=-6.845e+00;QD=10.59;ReadPosRankSum=-2.181e+00;SOR=1.086	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,21:23:68:.:.:986,883,843,69,68,0	6	1	2	0
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	37739.64	115	chr6	32530184	.	T	G,*,A	37739.64	.	AC=12,22,3;AF=0.286,0.524,0.071;AN=42;BaseQRankSum=-6.320e-01;DP=2340;ExcessHet=1.1607;FS=2.132;InbreedingCoeff=-0.1351;MLEAC=12,23,2;MLEAF=0.286,0.548,0.048;MQ=55.50;MQRankSum=0.00;QD=16.93;ReadPosRankSum=1.02;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,21,2:23:20:1|1:32530184_T_*:986,883,843,69,68,0,699,692,20,651:32530184	0	3	1	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	53589.95	112	chr6	32530185	.	T	TGC,*,C	53589.95	.	AC=5,18,14;AF=0.119,0.429,0.333;AN=42;BaseQRankSum=0.157;DP=2296;ExcessHet=1.1607;FS=2.990;InbreedingCoeff=-0.1351;MLEAC=5,18,14;MLEAF=0.119,0.429,0.333;MQ=55.53;MQRankSum=0.00;QD=24.29;ReadPosRankSum=-2.360e-01;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,21,0:23:68:1|1:32530184_T_*:986,883,843,69,68,0,883,843,68,843:32530184	0	1	0	0
chr6	32580272	32580272	T	C	splicing	HLA-DRB1	NM_001243965:exon7:c.737-2A>G;NM_002124:exon5:c.764-2A>G	.	.	.	YES	45	1469	6	2	0	10	0.00339213	0.9999	0.734	3225348	Multiple_sclerosis,_susceptibility_to	MONDO:MONDO:0007462,MedGen:C1868685,OMIM:126200,OMIM:PS126200	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	0.307	5.666	2.93	0.567	2.966	6.479	.	.	.	.	0.0007	0.0003	0.0006	0.0009	0	0.0010	0.0015	0.0002	0.0001537	4	26028	rs756519999	7.434e-06	0.0001	6.525e-06	8.301e-06	0.0003	3.09e-06	1.99e-06	.	.	0	0	0	0	8.718e-05	0.0003	1.472e-06	0	1.443e-05	1.84e-05	0.0002	0	3.79e-05	3.977e-05	3.06e-06	1.14e-06	6.59e-06	2.47e-06	0	0	0	0	0	0	0	3.977e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.190081	0.22246	T	-0.510815	0.21232	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.437851	0.90896	32	0.85149035426513187	0.15715	0.64364	0.32383	D	AEFBCI	.	.	.	0.580347858300031	0.71948	5.729366	0.300592803444116	0.55574	3.720369	0.399600310485906	0.20119	0.256867	0.04430	0	0.271743	0.05004	0	0.091713	0.02954	0	0.058706	0.01089	0	0.110662	0.23644	4.1	2.93	0.33092	3.342000	0.51877	.	.	0.478000	0.22058	0.985000	0.35982	0.128000	0.22971	0.049000	0.15107	0.0:0.116:0.0:0.884	6.479	0.21252	934	0.15400	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1473.8	112	chr6	32580272	.	T	C	1473.8	.	AC=2;AF=0.050;AN=40;BaseQRankSum=0.295;DP=2507;ExcessHet=0.1072;FS=8.712;InbreedingCoeff=-0.0633;MLEAC=2;MLEAF=0.050;MQ=52.44;MQRankSum=0.203;QD=9.21;ReadPosRankSum=2.01;SOR=1.409	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:162,0:162:99:.:.:0,120,1800	18	0	2	1
chr6	32581836	32581836	G	A	exonic	HLA-DRB1	.	stopgain	HLA-DRB1:NM_002124:exon3:c.C373T:p.Q125X,	.	.	4	1243	130	0	145	275	0.0496942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	0.838	N	1.000	A	.	.	.	.	.	.	.	.	.	2.918	15.72	0.396	0.242	-1.613	7.656	.	.	.	.	1.992e-05	0	0	0	0	1.758e-05	0	7.93e-05	.	.	.	rs17882084	0.0002	0.0028	0.0002	0.0002	0.0012	0.0002	0.0002	0.0009	0.0008	0.0002	0.0012	0.0003	0	7.98e-05	0	0.0002	0.0002	0.0001	8.823e-06	0.0005	0	1.815e-05	.	0	0	.	.	0	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.838005	0.06982	N	1.073180	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.674	0.68169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263211	0.79824	D	0.140308	0.79564	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	4.079196	0.60664	24.2	0.98105513147472045	0.38310	0.05555	0.11452	N	AEFDBHCI	0.337902	0.43555	N	0.0535119855739055	0.44304	2.706928	-0.352422202738623	0.26434	1.460069	0.999291314727099	0.39042	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	3.87	0.396	0.15532	-1.435000	0.02529	.	.	-0.542000	0.04929	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2917:0.5886:0.1197	7.656	0.27542	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1905	29644.93	509	chr6	32581836	.	G	C,A	29644.93	.	AC=5,3;AF=0.119,0.071;AN=42;BaseQRankSum=-1.041e+00;DP=8578;ExcessHet=0.5418;FS=1.262;InbreedingCoeff=0.0735;MLEAC=5,3;MLEAF=0.119,0.071;MQ=56.50;MQRankSum=-8.926e+00;QD=8.65;ReadPosRankSum=3.57;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:441,0,0:441:99:.:.:0,120,1800,120,1800,1800	14	1	3	0
chr6	32584158	32584158	G	T	exonic	HLA-DRB1	.	stopgain	HLA-DRB1:NM_002124:exon2:c.C321A:p.Y107X,	.	.	38	1273	37	0	174	211	0.0143244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.019	N	1.000	A	.	.	.	.	.	.	.	.	.	2.920	15.73	-1.18	-0.021	0.300	8.251	.	.	.	.	0.1326	0.0860	0.1891	0.1952	0.1299	0.1319	0.1322	0.1062	0.0914801	14143	154602	rs11554463	0.0011	0.0015	0.0010	0.0012	0.0031	0.0010	0.0010	0.0026	0.0024	0.0011	0.0017	0.0022	0.0031	0.0008	0.0014	0.0008	0.0012	0.0025	0.0094	0.0072	0.0098	0.0089	0.0186	0.0087	0.0084	0.0128	0.0109	0.0055	0.0183	0.0146	0.0145	0.0186	0.0078	0.0200	0.0104	0.0114	0.0095	.	.	.	.	.	.	.	.	.	.	.	.	0.019402	0.01510	N	2.614030	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.27	0.30574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.158225	0.27035	T	0.0633237	0.74465	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	4.513188	0.70700	25.6	0.98600005784927347	0.43493	0.15870	0.19121	N	ALL	0.134508	0.25455	N	-0.269699894769455	0.30323	1.689784	-0.635027386912684	0.18595	0.9940822	0.999708401555777	0.41986	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.616125	0.45549	0	.	.	3.48	-1.18	0.09122	0.618000	0.24068	.	.	-0.626000	0.04528	0.548000	0.27330	0.000000	0.08366	0.001000	0.02609	0.0982:0.4365:0.4653:0.0	8.251	0.30877	934	0.15400	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.1	9626.3	174	chr6	32584158	.	G	T,A	9626.3	.	AC=2,2;AF=0.050,0.050;AN=40;BaseQRankSum=-6.130e-01;DP=3725;ExcessHet=0.6776;FS=3.568;InbreedingCoeff=-0.1200;MLEAC=2,2;MLEAF=0.050,0.050;MQ=54.07;MQRankSum=3.07;QD=9.89;ReadPosRankSum=-5.630e-01;SOR=0.957	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:160,0,0:160:99:.:.:0,120,1800,120,1800,1800	16	0	2	1
chr6	32584159	32584159	T	A	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon2:c.A320T:p.Y107F,	.	.	19	1485	18	0	0	18	0.0060241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.001	B	0.004	B	0.019	N	1.000	N	0.95	L	7.94	T	-0.961	T	0.000	T	0.473	0.986	9.025	-6.97	-3.139	-1.695	10.384	0.146	0.00156880872508	.	.	2.882e-05	0	0	0	0	5.168e-05	0	0	.	.	.	rs17879620	8.159e-07	8.338e-06	1.635e-06	0	1.075e-06	0	0	.	.	0	0	0	0	0	0	1.075e-06	0	0	8.192e-06	1.363e-05	0	1.699e-05	1.716e-05	0	0	.	.	0	0	0	0	0	0	0	1.716e-05	0	0	0.1	0.30515	T	0.665	0.06406	T	0.001	0.07471	B	0.004	0.10090	B	0.019402	0.01510	N	2.614030	1	0.08975	N	.	.	.	7.94	0.00325	T	-1.31	0.32791	N	0.069	0.04188	-0.9609	0.39012	T	0.000	0.00075	T	10	0.08406469	0.14051	T	0.001569	0.02497	T	0.146	0.38789	.	.	0.141422826196	0.13715	0.14657268009090976	0.14579	0.665335666029	0.59136	.	.	.	0.015807	0.13185	T	-0.216582	0.18463	T	-0.548881	0.17432	T	0.139853916937205	0.16262	T	0.0555944	0.00401	T	0.29195747	0.52174	0.137562	0.32877	0.29195747	0.52174	0.137562	0.32876	-3.39	0.14922	T	.	.	0.096	0.15251	B	.	.	-2.347648	0.00046	0.001	0.65931025823746126	0.07913	0.00346	0.01789	N	ALL	0.113848	0.22447	N	-1.49287139486699	0.01900	0.08336921	-1.65846557971035	0.01332	0.06014232	0.999999990042277	0.74766	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.616125	0.45549	0	.	.	3.48	-6.97	0.01459	-0.933000	0.04067	.	.	-1.911000	0.00515	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7845:0.0:0.0954:0.1201	10.384	0.43310	934	0.15400	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	163.98	174	chr6	32584159	.	T	A	163.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.402;DP=3701;ExcessHet=0.0000;FS=6.297;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.82;MQRankSum=-3.882e+00;QD=0.68;ReadPosRankSum=-4.231e+00;SOR=1.431	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:160,0:160:99:.:.:0,120,1800	20	0	1	0
chr6	32584160	32584160	A	C	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon2:c.T319G:p.Y107D,	.	.	19	1485	18	0	0	18	0.0060241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.933	D	0.019	N	1.000	N	3.825	H	7.84	T	-0.978	T	0.002	T	0.561	2.896	15.65	-5.14	-0.641	-1.617	8.996	0.132	0.0015101555701	.	.	2.877e-05	0	0	0	0	5.155e-05	0	0	.	.	.	rs17884043	0	1.251e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	8.201e-06	1.364e-05	0	1.702e-05	1.716e-05	0	0	.	.	0	0	0	0	0	0	0	1.716e-05	0	0	0.0	0.91255	D	0.04	0.50809	D	0.997	0.70673	D	0.933	0.66815	D	0.019402	0.01510	N	2.614030	1	0.08975	N	.	.	.	7.84	0.00333	T	-5.53	0.86073	D	0.416	0.45615	-0.9779	0.35481	T	0.002	0.00526	T	10	0.40084913	0.55556	T	0.00151	0.02343	T	0.132	0.35948	.	.	0.552367828057	0.54894	0.6090491175066671	0.60836	2.30488031714	0.96506	.	.	.	0.016375	0.13546	T	-0.11443	0.34038	T	-0.402147	0.33136	T	0.985079526901245	0.76178	D	0.0585941	0.00423	T	0.5864999	0.71962	0.74983215	0.85213	0.5864999	0.71963	0.74983215	0.85214	-7.351	0.56558	T	.	.	0.452	0.62301	A	.	.	1.181034	0.15714	12.05	0.96272771664347634	0.29254	0.02291	0.06595	N	ALL	0.194799	0.32186	N	-0.359321827760937	0.26931	1.473667	-0.767686247680322	0.15289	0.8033058	0.999984616475046	0.51787	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.616125	0.45549	0	.	.	3.48	-5.14	0.02656	-1.694000	0.02016	.	.	-0.543000	0.04927	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2061:0.6597:0.0:0.1342	8.996	0.35216	934	0.15400	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	157.98	174	chr6	32584160	.	A	C	157.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.45;DP=3703;ExcessHet=0.0000;FS=6.324;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.79;MQRankSum=-3.865e+00;QD=0.65;ReadPosRankSum=-4.085e+00;SOR=1.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:160,0:160:99:.:.:0,120,1800	20	0	1	0
chr6	32584171	32584171	G	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon3:c.281+1C>0;NM_001243965:exon4:c.282-1C>0	.	.	.	.	212	511	370	121	308	920	0.374541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	28452.78	197	chr6	32584171	.	G	*,T,A	28452.78	.	AC=8,10,1;AF=0.200,0.250,0.025;AN=40;BaseQRankSum=-1.190e-01;DP=4168;ExcessHet=6.7470;FS=3.321;InbreedingCoeff=-0.2727;MLEAC=8,10,1;MLEAF=0.200,0.250,0.025;MQ=53.84;MQRankSum=-1.211e+00;QD=8.51;ReadPosRankSum=1.10;SOR=0.481	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:172,108,0,0:280:99:0|1:32584161_G_A:4017,0,6897,4535,7222,11757,4535,7222,11757,11757:32584161	4	0	6	1
chr6	32584177	32584178	CG	0	exonic	HLA-DRB1	.	.	.	.	.	55	575	391	86	415	978	0.328663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	39726.1	222	chr6	32584177	.	CG	C,*	39726.1	.	AC=8,13;AF=0.190,0.310;AN=42;BaseQRankSum=2.29;DP=4443;ExcessHet=11.2363;FS=1.783;InbreedingCoeff=-0.4286;MLEAC=8,13;MLEAF=0.190,0.310;MQ=53.58;MQRankSum=-2.856e+00;QD=10.49;ReadPosRankSum=-6.830e-01;SOR=0.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:196,124,0:320:99:0|1:32584161_G_A:4617,0,7857,5207,8230,13437:32584161	3	0	6	0
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	19514.62	219	chr6	32584178	.	G	GCT,*	19514.62	.	AC=5,20;AF=0.119,0.476;AN=42;BaseQRankSum=-6.100e-02;DP=4440;ExcessHet=2.4516;FS=0.559;InbreedingCoeff=-0.0871;MLEAC=5,20;MLEAF=0.119,0.476;MQ=50.67;MQRankSum=1.24;QD=5.44;ReadPosRankSum=2.19;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,195,124:319:99:0|1:32584178_G_GCT:13376,5204,4617,8178,0,7857:32584178	3	0	1	0
chr6	32584184	32584184	G	0	exonic	HLA-DRB1	.	.	.	.	.	80	969	165	64	244	537	0.131331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	7031.51	227	chr6	32584184	.	G	GT,*,GTC	7031.51	.	AC=6,5,1;AF=0.150,0.125,0.025;AN=40;BaseQRankSum=3.49;DP=4835;ExcessHet=3.2961;FS=2.645;InbreedingCoeff=-0.1959;MLEAC=6,5,1;MLEAF=0.150,0.125,0.025;MQ=53.60;MQRankSum=-4.261e+00;QD=2.53;ReadPosRankSum=-3.096e+00;SOR=0.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:143,0,216,0:359:99:0|1:32584178_G_GCT:8639,9070,15074,0,6005,5354,9070,15074,6005,15074:32584178	9	0	5	1
chr6	32584184	32584184	-	TC	exonic	HLA-DRB1	.	frameshift insertion	HLA-DRB1:NM_002124:exon2:c.294_295insGA:p.Q99Dfs*31,	.	.	80	969	165	64	244	537	0.131331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.94e-05	0	0	0	0	0.0001	0	0	0.0016905	44	26028	rs28986201	2.344e-06	2.239e-05	4.721e-06	0	3.106e-06	3.9e-07	1.5e-07	5.2e-07	1.9e-07	0	0	0	0	0	0	3.106e-06	0	0	0	3.383e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	7031.51	227	chr6	32584184	.	G	GT,*,GTC	7031.51	.	AC=6,5,1;AF=0.150,0.125,0.025;AN=40;BaseQRankSum=3.49;DP=4835;ExcessHet=3.2961;FS=2.645;InbreedingCoeff=-0.1959;MLEAC=6,5,1;MLEAF=0.150,0.125,0.025;MQ=53.60;MQRankSum=-4.261e+00;QD=2.53;ReadPosRankSum=-3.096e+00;SOR=0.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:143,0,216,0:359:99:0|1:32584178_G_GCT:8639,9070,15074,0,6005,5354,9070,15074,6005,15074:32584178	9	0	5	1
chr6	32584185	32584185	C	0	exonic	HLA-DRB1	.	.	.	.	.	82	1001	166	64	209	503	0.128049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	6470.95	227	chr6	32584185	.	C	CT,*	6470.95	.	AC=6,5;AF=0.150,0.125;AN=40;BaseQRankSum=2.10;DP=4843;ExcessHet=2.2868;FS=2.608;InbreedingCoeff=-0.1376;MLEAC=6,5;MLEAF=0.150,0.125;MQ=53.44;MQRankSum=-6.590e+00;QD=2.58;ReadPosRankSum=-3.178e+00;SOR=0.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:143,0,216:359:99:0|1:32584178_G_GCT:8639,9070,15074,0,6005,5354:32584178	10	0	5	1
chr6	32584243	32584243	A	G	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon2:c.T236C:p.V79A,	.	.	1	1510	10	1	0	12	0.00395778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.994	D	0.464	N	0.843	N	3.53	H	7.85	T	-0.877	T	0.002	T	0.701	2.176	13.23	3.52	1.609	0.768	6.192	0.151	.	.	0.00299521	0.0024	0	0.0003	0.0001	0	3.193e-05	0	0.0173	0.0019081	295	154602	rs17885908	0.0011	0.0011	0.0006	0.0017	0.0181	0.0011	0.0011	0.0173	0.0170	0	0	0	5.149e-05	0	0.0027	1.15e-05	0.0008	0.0181	0.0005	0.0005	0.0002	0.0008	0.0152	0.0004	0.0003	0.0122	0.0111	2.778e-05	0	0	0	0	0	0	0	0	0.0152	0.001	0.78490	D	0.242	0.24264	T	0.998	0.73220	D	0.994	0.82059	D	0.463962	0.04886	N	1.313330	0.843472	0.28598	N	.	.	.	7.85	0.00333	T	-3.44	0.67477	D	0.343	0.38438	-0.8772	0.49981	T	0.002	0.00585	T	10	0.004941851	0.00106	T	.	.	.	0.151	0.39764	.	.	0.566666267248	0.56331	0.2065833504392533	0.20574	1.87261735177	0.92534	.	.	.	0.017111	0.14019	T	-0.127656	0.31876	T	-0.228154	0.51951	T	0.214614977977204	0.21191	T	0.0505949	0.00359	T	0.6246811	0.74014	0.48314396	0.70076	0.6246811	0.74015	0.48314396	0.70076	-6.68	0.51660	T	.	.	0.280	0.51350	B	.	.	3.231505	0.44070	21.9	0.99203033636509064	0.55351	0.09015	0.14853	N	AEFDGBCI	0.335297	0.43378	N	0.226989612826035	0.52509	3.424761	-0.0167516115762437	0.38958	2.302782	0.999951060784609	0.48110	0.627647	0.40530	0	0.672317	0.65289	0	0.731467	0.93227	0	0.616125	0.45549	0	.	.	3.52	3.52	0.39415	0.617000	0.24053	.	.	0.355000	0.20016	0.002000	0.15269	0.029000	0.21193	0.006000	0.07323	0.775:0.0:0.0:0.225	6.192	0.19742	934	0.15400	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4814.98	305	chr6	32584243	.	A	G	4814.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.851e+00;DP=7187;ExcessHet=0.0000;FS=2.246;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.18;MQRankSum=8.81;QD=17.70;ReadPosRankSum=0.878;SOR=0.556	GT:AD:DP:GQ:PL	0/0:562,0:562:99:0,120,1800	20	0	1	0
chr6	32584318	32584318	C	0	exonic	HLA-DRB1	.	.	.	.	.	12	1221	160	8	121	297	0.0672269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3600.15	264	chr6	32584318	.	C	*,T	3600.15	.	AC=7,2;AF=0.167,0.048;AN=42;BaseQRankSum=-8.230e-01;DP=7428;ExcessHet=4.7172;FS=0.567;InbreedingCoeff=-0.2727;MLEAC=7,2;MLEAF=0.167,0.048;MQ=53.39;MQRankSum=-4.724e+00;QD=1.58;ReadPosRankSum=1.92;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:617,0,0:617:99:.:.:0,120,1800,120,1800,1800	12	0	7	0
chr6	32584352	32584352	C	0	exonic	HLA-DRB1	.	.	.	.	.	1	176	25	0	24	49	0.066313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3438.47	189	chr6	32584352	.	C	CATGTTTAA,*	3438.47	.	AC=3,3;AF=0.071,0.071;AN=42;BaseQRankSum=3.60;DP=6521;ExcessHet=1.7912;FS=13.879;InbreedingCoeff=-0.1667;MLEAC=3,3;MLEAF=0.071,0.071;MQ=50.14;MQRankSum=-7.080e+00;QD=3.33;ReadPosRankSum=-2.932e+00;SOR=1.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:617,0,0:617:99:.:.:0,120,1800,120,1800,1800	15	0	3	0
chr6	32584353	32584353	C	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon2:c.101-1G>0	.	.	.	.	171	315	497	500	39	1536	0.703808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	182961.39	194	chr6	32584353	.	C	A,*	182961.39	.	AC=26,3;AF=0.650,0.075;AN=40;BaseQRankSum=2.52;DP=6556;ExcessHet=2.5338;FS=2.208;InbreedingCoeff=-0.0889;MLEAC=27,3;MLEAF=0.675,0.075;MQ=54.10;MQRankSum=-6.249e+00;QD=32.11;ReadPosRankSum=2.64;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:554,0,0:554:0:.:.:0,0,0,0,0,0	1	9	7	1
chr6	32584354	32584354	C	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon2:c.101-2G>0	.	.	.	.	175	338	454	378	177	1387	0.641569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5789	154460.88	195	chr6	32584354	.	C	G,A,*	154460.88	.	AC=18,5,1;AF=0.474,0.132,0.026;AN=38;BaseQRankSum=-2.830e-01;DP=6461;ExcessHet=1.8260;FS=3.068;InbreedingCoeff=-0.0814;MLEAC=19,5,1;MLEAF=0.500,0.132,0.026;MQ=53.66;MQRankSum=4.10;QD=29.69;ReadPosRankSum=-9.790e-01;SOR=1.011	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:554,0,0,0:554:0:.:.:0,0,0,0,0,0,0,0,0,0	2	4	8	2
chr6	32584357	32584357	T	0	exonic	HLA-DRB1	.	.	.	.	.	88	536	775	35	88	933	0.440793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	58783.46	171	chr6	32584357	.	T	G,*	58783.46	.	AC=12,2;AF=0.300,0.050;AN=40;BaseQRankSum=-3.436e+00;DP=5785;ExcessHet=6.1794;FS=7.618;InbreedingCoeff=-0.3166;MLEAC=12,2;MLEAF=0.300,0.050;MQ=54.27;MQRankSum=1.64;QD=13.90;ReadPosRankSum=-3.470e-01;SOR=1.239	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:549,0,0:549:0:.:.:0,0,2356,0,2356,2356	7	0	12	1
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	77795.68	157	chr6	32584370	.	G	*,A	77795.68	.	AC=12,17;AF=0.316,0.447;AN=38;BaseQRankSum=3.82;DP=5453;ExcessHet=0.1204;FS=4.284;InbreedingCoeff=0.3021;MLEAC=13,18;MLEAF=0.342,0.474;MQ=52.94;MQRankSum=-1.218e+01;QD=17.06;ReadPosRankSum=-1.291e+00;SOR=1.063	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:487,0,0:487:0:.:.:0,0,0,0,0,0	2	0	3	2
chr6	32589684	32589684	A	G	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon1:c.T59C:p.M20T,	.	.	1	1193	328	0	0	328	0.120855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.049	B	0.034	B	0.131	N	1.000	N	1.61	L	8.43	T	-0.941	T	0.000	T	0.415	0.078	4.424	2.05	0.270	1.241	5.311	0.077	.	.	.	0.0009	0.0026	0	0	0.0002	0.0012	0.0011	0.0004	0.0042646	111	26028	rs35053532	0.0006	0.0073	0.0006	0.0007	0.0022	0.0006	0.0006	0.0017	0.0016	0.0005	0.0009	0.0017	0.0008	0.0006	0.0022	0.0005	0.0008	0.0020	0.0010	0.0084	0.0014	0.0007	0.0018	0.0009	0.0008	0.0012	0.0011	0.0005	0.0033	0.0007	0.0032	0.0018	0	0	0.0015	0	0.0004	0.015	0.52492	D	0.163	0.31125	T	0.049	0.22227	B	0.034	0.22546	B	0.130685	0.02806	N	1.753860	0.999999	0.08975	N	.	.	.	8.43	0.00232	T	-2.54	0.55025	D	0.351	0.39254	-0.9412	0.42426	T	0.000	0.00075	T	10	0.023282856	0.00605	T	.	.	.	0.077	0.22490	.	.	0.370240404367	0.36630	0.4121927582371236	0.41135	0.84044661693	0.68037	.	.	.	0.009999	0.09062	T	-0.155507	0.27453	T	-0.461152	0.26474	T	0.0196228360865429	0.00665	T	0.529047	0.17505	T	0.35031834	0.57092	0.4314815	0.66765	0.35031834	0.57092	0.4314815	0.66765	-2.481	0.05653	T	.	.	0.110	0.21353	B	.	.	2.014600	0.25599	16.82	0.8036740669395388	0.13170	0.04417	0.10008	N	ALL	0.194190	0.32128	N	-0.683751231317595	0.16484	0.8402923	-0.710060751366673	0.16710	0.8852588	0.99999996150014	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.584781	0.30282	0	0.687789	0.68303	1	.	.	4.4	2.05	0.25860	1.398000	0.34163	.	.	0.750000	0.87069	0.802000	0.29747	0.000000	0.08366	0.027000	0.12703	0.7604:0.0:0.2396:0.0	5.311	0.15141	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	10724.01	323	chr6	32589684	.	A	G	10724.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-1.231e+00;DP=4752;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=49.04;MQRankSum=-7.090e-01;QD=4.29;ReadPosRankSum=0.302;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:229,0:229:99:.:.:0,120,1800	12	0	9	0
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12898.36	213	chr6	32641444	.	G	C,*	12898.36	.	AC=10,14;AF=0.238,0.333;AN=42;BaseQRankSum=3.77;DP=4027;ExcessHet=1.2156;FS=8.630;InbreedingCoeff=0.0278;MLEAC=10,14;MLEAF=0.238,0.333;MQ=56.94;MQRankSum=-9.014e+00;QD=4.08;ReadPosRankSum=-2.282e+00;SOR=0.880	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:121,0,0:121:99:.:.:0,120,1800,120,1800,1800	4	2	3	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12919.36	215	chr6	32641445	.	A	*,T	12919.36	.	AC=14,10;AF=0.333,0.238;AN=42;BaseQRankSum=3.40;DP=4033;ExcessHet=1.2156;FS=8.537;InbreedingCoeff=0.0278;MLEAC=14,10;MLEAF=0.333,0.238;MQ=56.99;MQRankSum=-8.973e+00;QD=4.08;ReadPosRankSum=-2.307e+00;SOR=0.861	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:121,0,0:121:99:.:.:0,120,1800,120,1800,1800	4	2	7	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10387.93	236	chr6	32641462	.	G	A,*	10387.93	.	AC=8,16;AF=0.190,0.381;AN=42;BaseQRankSum=5.43;DP=4198;ExcessHet=1.2156;FS=3.431;InbreedingCoeff=0.0278;MLEAC=8,16;MLEAF=0.190,0.381;MQ=57.72;MQRankSum=-9.839e+00;QD=3.14;ReadPosRankSum=-1.129e+00;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:121,0,0:121:99:.:.:0,120,1800,120,1800,1800	4	1	3	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10409.93	237	chr6	32641464	.	T	A,*	10409.93	.	AC=8,16;AF=0.190,0.381;AN=42;BaseQRankSum=3.55;DP=4202;ExcessHet=1.2156;FS=3.398;InbreedingCoeff=0.0278;MLEAC=8,16;MLEAF=0.190,0.381;MQ=57.80;MQRankSum=-9.745e+00;QD=3.15;ReadPosRankSum=-9.480e-01;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:121,0,0:121:99:.:.:0,120,1800,120,1800,1800	4	1	3	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	25415.33	297	chr6	32641501	.	G	C,*,A	25415.33	.	AC=10,13,1;AF=0.238,0.310,0.024;AN=42;BaseQRankSum=2.16;DP=4612;ExcessHet=1.2156;FS=0.551;InbreedingCoeff=0.0278;MLEAC=10,13,1;MLEAF=0.238,0.310,0.024;MQ=58.81;MQRankSum=-6.452e+00;QD=6.79;ReadPosRankSum=1.25;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:121,0,0,0:121:99:.:.:0,120,1800,120,1800,1800,120,1800,1800,1800	4	2	3	0
chr6	32641522	32641522	A	G	exonic	HLA-DQA1	.	nonsynonymous SNV	HLA-DQA1:NM_002122:exon2:c.A295G:p.M99V,	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.001	B	0.002	B	0.417	U	1.000	N	0.695	N	5.87	T	-0.920	T	0.000	T	0.292	-0.760	0.789	-7.95	-6.444	-13.284	0.888	0.044	.	.	.	0.0057	0.0025	0.0088	0.0053	0.0084	0.0066	0.0016	0.0024	0.0058783	153	26028	rs1064944	4.039e-05	0.0068	3.94e-05	4.138e-05	0.0002	2.98e-05	2.601e-05	9.923e-05	6.79e-05	0	5.25e-05	0.0002	0.0002	0	0	3.331e-05	0.0001	0	0	0.0073	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.116	0.29688	T	0.158	0.31629	T	.	.	.	.	.	.	0.417235	0.04626	U	1.376450	1	0.08975	N	.	.	.	5.87	0.00635	T	-1.45	0.35792	N	0.057	0.05670	-0.9197	0.45594	T	0.000	0.00152	T	10	0.004614234	0.00096	T	.	.	.	0.044	0.11924	.	.	.	.	0.34569313513656585	0.34483	0.852731849783	0.68618	0.289853215218	0.08902	T	0.017806	0.14461	T	-0.715283	0.00030	T	-0.656411	0.08510	T	0.0132995924044953	0.00238	T	0.206079	0.02437	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.25753	B	.;.;.;.	.;.;.;.	-4.065667	0.00001	0.001	0.34440312666605133	0.02107	0.00388	0.01954	N	AEFGBHCI	0.200916	0.32762	N	-2.37503005817049	0.00031	0.001328335	-2.55582823607075	0.00017	0.0007554368	1.0	0.98316	0.627647	0.40530	0	0.672317	0.65289	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.97	-7.95	0.01015	-12.340000	0.00003	.	.	-5.452000	0.00010	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3982:0.2011:0.1237:0.2771	0.888	0.01170	940	0.13648	MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal	.	.	.	.	rs1064944	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4762	28752.87	324	chr6	32641522	.	A	C,G,*	28752.87	.	AC=3,8,13;AF=0.071,0.190,0.310;AN=42;BaseQRankSum=-1.647e+00;DP=4904;ExcessHet=1.2156;FS=1.149;InbreedingCoeff=0.0278;MLEAC=3,8,13;MLEAF=0.071,0.190,0.310;MQ=58.97;MQRankSum=-5.772e+00;QD=7.21;ReadPosRankSum=1.57;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:121,0,0,0:121:99:.:.:0,120,1800,120,1800,1800,120,1800,1800,1800	4	0	1	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	28752.87	324	chr6	32641522	.	A	C,G,*	28752.87	.	AC=3,8,13;AF=0.071,0.190,0.310;AN=42;BaseQRankSum=-1.647e+00;DP=4904;ExcessHet=1.2156;FS=1.149;InbreedingCoeff=0.0278;MLEAC=3,8,13;MLEAF=0.071,0.190,0.310;MQ=58.97;MQRankSum=-5.772e+00;QD=7.21;ReadPosRankSum=1.57;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:121,0,0,0:121:99:.:.:0,120,1800,120,1800,1800,120,1800,1800,1800	4	0	1	0
chr6	32664869	32664869	G	T	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.C308A:p.T103N	.	.	47	1413	29	33	0	95	0.0325231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.996	D	0.972	D	0.634	U	1.000	N	2.61	M	8.06	T	-0.949	T	0.001	T	0.516	1.281	10.19	-2.53	-0.428	-10.749	6.882	0.158	0.00320934890791	.	.	0.0036	0.0038	0.0016	0.0012	0.0020	0.0031	0.0049	0.0085	0.0130335	2015	154602	rs9274387	1.448e-05	0.0002	1.473e-05	1.424e-05	0.0003	8.4e-06	6.57e-06	3.1e-06	2.04e-06	0	0	0	0	0.0001	0.0003	8.631e-06	2.352e-05	0	8.846e-06	0.0004	0	1.827e-05	1.872e-05	0	0	.	.	0	0	0	0	0	0	0	1.872e-05	0	0	0.01	0.56456	D	0.224	0.25591	T	0.118	0.26577	B	0.253	0.39112	B	0.634068	0.10659	U	0.776971	1	0.08975	N	.	.	.	8.06	0.00308	T	-0.92	0.24676	N	0.064	0.03613	-0.9485	0.41228	T	0.001	0.00318	T	10	0.009080023	0.00205	T	0.003209	0.07057	T	0.158	0.41098	.	.	.	.	0.2784650380839335	0.27759	0.661283572157	0.58917	0.304967522621	0.11146	T	0.009157	0.08356	T	-0.18148	0.23516	T	-0.49846	0.22508	T	0.028743839315783	0.01798	T	0.240776	0.03459	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.39237	B	.;.;.;.	.;.;.;.	-1.656487	0.00214	0.003	0.96346439753286539	0.29499	0.00415	0.02058	N	ALL	0.101341	0.20356	N	-1.25150793438975	0.04280	0.1928499	-1.46237027539343	0.02660	0.1227418	0.9999999444672	0.74766	0.446893	0.09132	0	0.52208	0.09955	0	0.503968	0.08637	0	0.530356	0.10902	0	.	.	3.87	-2.53	0.05959	-9.210000	0.00017	.	.	-0.509000	0.05002	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.1676:0.3191:0.5133	6.882	0.23358	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	737.09	242	chr6	32664869	.	G	T	737.09	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.81;DP=4266;ExcessHet=0.0000;FS=15.501;InbreedingCoeff=0.9992;MLEAC=2;MLEAF=0.048;MQ=55.33;MQRankSum=-8.341e+00;QD=25.76;ReadPosRankSum=-1.590e+00;SOR=2.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:394,0:394:99:.:.:0,120,1800	20	1	0	0
chr6	32664917	32664917	C	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.G260T:p.R87L	.	.	41	553	66	57	805	985	0.139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.022	B	0.025	B	0.941	U	0.979	N	-0.55	N	7.87	T	-1.065	T	0.000	T	0.194	0.074	4.399	0.193	-0.489	0.016	5.435	0.088	.	.	.	0.0178	0.0094	0.0074	0.0044	0.0110	0.0123	0.0177	0.0613	0.0308211	4765	154602	rs1130380	0.0002	0.0028	0.0002	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	6.946e-05	7.264e-05	8.514e-05	0	0.0002	0.0004	0.0001	0.0001	0.0006	6.32e-05	0.0064	1.542e-05	0.0001	6.948e-05	3.113e-05	2.259e-05	2.321e-05	1.392e-05	2.998e-05	0	0	0.0010	0	0	0	6.948e-05	0	0	0.065	0.44029	T	0.021	0.58613	D	0.001	0.09854	B	0.004	0.10090	B	0.941407	0.08351	U	0.961307	0.979372	0.39555	D	.	.	.	7.87	0.00331	T	-5.88	0.88699	D	0.129	0.12341	-1.0646	0.10642	T	0.000	0.00039	T	10	0.003316313	0.00057	T	.	.	.	0.088	0.25558	.	.	.	.	0.3182965296469853	0.31742	0.691323969143	0.60588	0.299167692661	0.10277	T	0.017577	0.14314	T	-0.655468	0.00067	T	-0.649226	0.09008	T	0.02403772754452	0.01149	T	0.162684	0.01473	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23219	B	.;.;.;.	.;.;.;.	1.177431	0.15679	12.02	0.80016420578156267	0.13006	0.03612	0.08845	N	ALL	0.215815	0.34113	N	-2.29836096021619	0.00046	0.001970145	-2.22797978748312	0.00097	0.004250061	0.999999969366938	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.193	0.14419	0.297000	0.18856	.	.	-4.622000	0.00024	0.032000	0.20554	0.000000	0.08366	0.000000	0.00833	0.0:0.4718:0.2098:0.3184	5.435	0.15776	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4762	85390.2	233	chr6	32664917	.	C	G,A	85390.2	.	AC=14,9;AF=0.333,0.214;AN=42;BaseQRankSum=0.684;DP=5279;ExcessHet=0.5442;FS=0.000;InbreedingCoeff=0.1350;MLEAC=14,9;MLEAF=0.333,0.214;MQ=59.41;MQRankSum=-1.614e+00;QD=23.27;ReadPosRankSum=-2.039e+00;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:451,0,0:451:99:.:.:0,120,1800,120,1800,1800	5	3	5	0
chr6	32664926	32664926	G	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.C251T:p.P84L	.	.	20	1284	160	58	0	276	0.0970464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.97	D	0.100	U	0.722	N	2.475	M	8.26	T	-0.988	T	0.001	T	0.485	1.832	12.08	0.064	-0.130	-0.282	10.579	0.119	.	.	.	0.0182	0.0107	0.0076	0.0048	0.0114	0.0123	0.0151	0.0628	0.0296956	4591	154602	rs9274395	0.0003	0.0032	0.0003	0.0003	0.0011	0.0003	0.0003	0.0009	0.0008	7.464e-05	0.0002	0.0001	0	0.0003	0.0006	0.0003	0.0003	0.0011	0.0002	0.0078	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	7.089e-05	0.0002	0	0	0.0014	0	0	0.0046	0.0002	0	0.0006	0.069	0.40068	T	0.043	0.49942	D	0.052	0.22494	B	0.029	0.21540	B	0.099669	0.19922	U	0.369227	0.722216	0.33630	D	.	.	.	8.26	0.00269	T	-3.84	0.75058	D	0.15	0.15328	-0.9881	0.33077	T	0.001	0.00287	T	10	0.006448716	0.00146	T	.	.	.	0.119	0.33137	.	.	.	.	0.18514000446126433	0.18431	0.566269477264	0.52927	0.319175481796	0.13295	T	0.014743	0.12495	T	-0.159806	0.26790	T	-0.467326	0.25804	T	0.051758160492758	0.05806	T	0.0806919	0.00607	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.25656	B	.;.;.;.	.;.;.;.	1.397222	0.18105	13.55	0.99226900122916373	0.56089	0.07262	0.13285	N	ALL	0.271360	0.38723	N	-0.744876639371783	0.14773	0.7387562	-0.902920104954735	0.12025	0.6161842	0.999999967135338	0.74766	0.652421	0.48094	0	0.504199	0.08210	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.064	0.13666	-0.204000	0.09426	.	.	-0.499000	0.05024	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.5119:0.4881	10.579	0.44436	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	rs9274395	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.2143	7784.99	221	chr6	32664926	.	G	A	7784.99	.	AC=9;AF=0.214;AN=42;BaseQRankSum=5.16;DP=5217;ExcessHet=0.9430;FS=0.663;InbreedingCoeff=0.0101;MLEAC=9;MLEAF=0.214;MQ=58.26;MQRankSum=-8.878e+00;QD=5.88;ReadPosRankSum=-3.053e+00;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:451,0:451:99:.:.:0,120,1800	13	1	7	0
chr6	32666525	32666525	A	0	exonic	HLA-DQB1	.	.	.	.	.	0	4	73	139	10	361	0.977716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	55654.92	97	chr6	32666525	.	A	*,G	55654.92	.	AC=9,30;AF=0.214,0.714;AN=42;BaseQRankSum=-1.394e+00;DP=1812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=9,30;MLEAF=0.214,0.714;MQ=60.00;MQRankSum=0.00;QD=31.69;ReadPosRankSum=-4.920e-01;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0,0:37:99:.:.:0,102,1530,102,1530,1530	1	1	0	0
chr6	32761836	32761836	T	C	exonic	HLA-DQB2	.	nonsynonymous SNV	HLA-DQB2:NM_001198858:exon2:c.A188G:p.E63G	.	.	0	1474	45	3	0	51	0.0170057	.	.	2822947	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.868	U	0.988	N	3.58	H	7.77	T	-0.775	T	0.233	T	0.343	3.273	16.99	2.26	0.490	4.618	8.051	0.137	.	.	0.00439297	0.0132	0.0031	0.0024	0.0009	0.0073	0.0198	0.0117	0.0082	0.0074902	1158	154602	rs115793818	0.0086	0.0087	0.0086	0.0087	0.0099	0.0085	0.0085	0.0091	0.0090	0.0040	0.0027	0.0304	0.0006	0.0051	0.0099	0.0092	0.0084	0.0053	0.0065	0.0065	0.0068	0.0063	0.0091	0.0062	0.0061	0.0085	0.0083	0.0029	0	0.0031	0.0288	0.0010	0.0060	0.0034	0.0091	0.0076	0.0048	0.0	0.91255	D	0.011	0.64786	D	1.0	0.90584	D	1.0	0.97372	D	0.867854	0.07157	U	1.097550	0.987679	0.24492	N	.	.	.	7.77	0.00338	T	-6.74	0.92648	D	0.425	0.46462	-0.7755	0.56553	T	0.233	0.59965	T	10	0.009718716	0.00219	T	.	.	.	0.137	0.36984	.	.	0.324986149311	0.32103	0.8822721149249012	0.88195	1.52937882776	0.87560	.	.	.	0.056207	0.30222	T	-0.422119	0.01659	T	-0.371159	0.36753	T	0.132767829360947	0.15636	T	.	.	.	.	.	.	.	.	.	.	.	-9.118	0.68453	D	.	.	0.482	0.63937	A	.;.;.	.;.;.	4.135670	0.61922	24.4	0.9960792757236383	0.74634	0.75301	0.36862	D	AEFDBCI	0.507824	0.53796	D	-0.148173745641328	0.35311	2.026715	-0.285778328430731	0.28566	1.593756	0.243303755062578	0.18596	0.634777	0.41761	0	0.643519	0.57511	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	3.48	2.26	0.27418	3.349000	0.51931	.	.	0.591000	0.32079	0.997000	0.40164	0.036000	0.21445	0.014000	0.10232	0.0:0.0:0.2068:0.7932	8.051	0.29742	940	0.13648	.;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	DXO	Heart_Left_Ventricle	.	.	rs115793818	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2414.98	95	chr6	32761836	.	T	C	2414.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.621e+00;DP=2280;ExcessHet=0.0000;FS=3.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.82;ReadPosRankSum=3.27;SOR=0.752	GT:AD:DP:GQ:PL	0/1:141,105:246:99:2429,0,3682	20	0	1	0
chr6	32829996	32829996	T	C	exonic	TAP2	.	nonsynonymous SNV	TAP2:NM_001290043:exon10:c.A1729G:p.M577V	Bare lymphocyte syndrome, type I, due to TAP2 deficiency, Autosomal recessive;Wegener-like granulomatosis (3)	.	1	1499	20	2	0	24	0.00794176	.	.	1155335	MHC_class_I_deficiency	MONDO:MONDO:0011476,MedGen:C1858266,OMIM:PS604571,Orphanet:34592	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.29	T	0.008	B	0.03	B	0.421	N	0.991	N	-0.47	N	-2.56	D	-1.065	T	0.177	T	0.264	1.829	12.08	-4.93	-0.720	-1.036	11.115	0.245	.	0.0008	0.0301518	0.0135	0.0012	0.0005	0.0914	0.0002	0.0006	0.0229	0.0440	0.0119468	1847	154602	rs2228391	0.0054	0.0054	0.0043	0.0065	0.0808	0.0053	0.0053	0.0785	0.0775	0.0010	0.0004	0.0003	0.0808	7.64e-05	0.0040	0.0004	0.0083	0.0427	0.0055	0.0055	0.0040	0.0071	0.0948	0.0052	0.0051	0.0879	0.0851	0.0007	0	0.0005	0.0012	0.0948	0	0.0034	0.0004	0.0080	0.0532	0.798	0.18122	T	0.59	0.12037	T	0.003	0.11197	B	0.007	0.12992	B	0.420975	0.12871	N	0.701585	.	.	.	-0.655	0.02084	N	-2.56	0.89627	D	-0.38	0.13805	N	0.035	0.01004	-1.0652	0.10502	T	0.177	0.52146	T	9	0.0018317103	0.00024	T	.	.	.	0.245	0.55201	.	.	.	.	0.39621706378244653	0.39536	0.463953477707	0.45884	0.289935529232	0.08913	T	0.194478	0.55027	T	-0.443903	0.01227	T	-0.33566	0.40836	T	0.00255174892571557	0.00027	T	0.455254	0.13018	T	0.050581872	0.09161	0.10338751	0.24805	0.050581872	0.09161	0.10338751	0.24804	-4.227	0.28816	T	.	.	0.101	0.17402	B	.;.;.;.	.;.;.;.	-0.409092	0.02180	0.214	0.55239157411957363	0.05301	0.18226	0.20172	N	AEFBI	0.087900	0.17821	N	-1.27513763532247	0.03977	0.1786684	-1.27220721765469	0.04810	0.2277881	0.999976508814831	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.17	-4.93	0.02839	-1.770000	0.01889	.	.	-0.155000	0.11859	0.000000	0.06391	0.000000	0.08366	0.184000	0.21420	0.0:0.0745:0.6262:0.2994	11.115	0.47476	934	0.15400	.;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	rs2228391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1459.98	41	chr6	32829996	.	T	C	1459.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.669e+00;DP=1281;ExcessHet=0.0000;FS=1.350;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.58;ReadPosRankSum=-2.039e+00;SOR=0.547	GT:AD:DP:GQ:PL	0/0:77,0:77:99:0,120,1800	20	0	1	0
chr6	32838190	32838190	A	G	exonic	TAP2	.	nonsynonymous SNV	TAP2:NM_001290043:exon2:c.T44C:p.V15A	Bare lymphocyte syndrome, type I, due to TAP2 deficiency, Autosomal recessive;Wegener-like granulomatosis (3)	.	3	1475	43	1	0	45	0.015025	.	.	363959	not_provided|MHC_class_I_deficiency	MedGen:C3661900|MONDO:MONDO:0011476,MedGen:C1858266,OMIM:PS604571,Orphanet:34592	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.61	T	0.0	B	0.0	B	0.029	N	1.000	N	-1.485	N	-0.17	T	-0.842	T	0.106	T	0.421	-0.158	3.227	-6.99	-1.295	0.003	9.966	0.375	.	0.0096	0.00878594	0.0051	0.0232	0.0020	0.0011	0.0003	0.0014	0.0038	0.0188	0.0044307	685	154602	rs55827768	0.0027	0.0027	0.0023	0.0031	0.0239	0.0026	0.0026	0.0225	0.0219	0.0239	0.0025	0.0003	0.0009	7.746e-05	0.0176	0.0013	0.0034	0.0149	0.0079	0.0080	0.0077	0.0080	0.0222	0.0075	0.0074	0.0210	0.0205	0.0222	0	0.0034	0.0003	0.0016	0	0.0205	0.0020	0.0087	0.0135	0.156	0.24090	T	0.607	0.07919	T	0.0	0.02946	B	0.0	0.01387	B	0.029026	0.01695	N	2.963350	.	.	.	-1.09	0.01018	N	-0.17	0.89430	T	-0.55	0.17624	N	0.058	0.03283	-0.8422	0.52500	T	0.106	0.38661	T	9	0.0048670173	0.00104	T	.	.	.	0.375	0.69358	.	.	0.12205267543	0.11705	0.3536502454149823	0.35279	0.544725754754	0.51518	0.561443984509	0.47472	T	0.050885	0.28723	T	-0.330553	0.06070	T	-0.230008	0.51771	T	0.00156613741159322	0.00016	T	0.591441	0.21800	T	0.02480374	0.01349	0.09237375	0.21765	0.02480374	0.01349	0.09237375	0.21765	-3.706	0.19791	T	.	.	0.061	0.01309	B	.;.;.;.	.;.;.;.	0.986896	0.13646	10.18	0.52241751892269228	0.04711	0.02510	0.07004	N	AEFDGBHCI	0.027632	0.02291	N	-1.91220650019428	0.00324	0.0139159	-1.89227232899798	0.00507	0.02247004	0.999999999999994	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.372554	0.06265	0	.	.	4.9	-6.99	0.01449	0.127000	0.15617	.	.	-0.720000	0.03816	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.1696:0.2447:0.5857:0.0	9.966	0.40894	934	0.15400	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.07143	1285.68	37	chr6	32838190	.	A	G	1285.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.913;DP=704;ExcessHet=0.3300;FS=1.472;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=-3.690e-01;SOR=0.555	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,700	18	0	3	0
chr6	32843017	32843017	T	A	exonic	PSMB8	.	nonsynonymous SNV	PSMB8:NM_004159:exon2:c.A208T:p.T70S	Autoinflammation, lipodystrophy, and dermatosis syndrome, Autosomal recessive	.	0	1475	46	1	0	48	0.0160107	.	.	455616	not_provided|Proteasome-associated_autoinflammatory_syndrome_1|Autoinflammatory_syndrome|Proteosome-associated_autoinflammatory_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040,Orphanet:2615,Orphanet:324977,Orphanet:324999,Orphanet:325004|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0009726,MedGen:C1850568,OMIM:PS256040,Orphanet:324977|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.395	M	0.59	T	-0.033	T	0.384	T	0.367	5.483	35	5.91	2.256	7.118	14.295	0.643	.	0.0092	0.00838658	0.0050	0.0216	0.0018	0.0011	0.0003	0.0013	0.0046	0.0160	0.0042626	659	154602	rs17220206	0.0027	0.0027	0.0023	0.0030	0.0214	0.0026	0.0026	0.0201	0.0196	0.0214	0.0023	0.0003	0.0009	5.734e-05	0.0166	0.0013	0.0035	0.0150	0.0075	0.0075	0.0074	0.0076	0.0206	0.0071	0.0070	0.0195	0.0190	0.0206	0	0.0034	0.0003	0.0015	0	0.0204	0.0020	0.0081	0.0133	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.605	0.76211	M	0.59	0.53943	T	-3.53	0.69477	D	0.858	0.85449	-0.0332	0.81562	T	0.384	0.73988	T	10	0.017019004	0.00361	T	.	.	.	0.643	0.86435	0.89	0.97320	0.885233339979	0.88410	0.8480556800380565	0.84766	1.4400113835	0.85953	0.61978495121	0.55699	T	0.246082	0.62314	T	-0.319012	0.06978	T	-0.214759	0.53240	T	0.0301341989451897	0.02010	T	.	.	.	0.68950045	0.77485	0.583038	0.75826	0.83828247	0.86487	0.6417363	0.79067	-7.497	0.58450	T	.	.	0.661	0.75421	P	.;.;.	.;.;.	4.690035	0.75145	26.3	0.99768579147479963	0.85666	0.97844	0.77553	D	AEFDBHCI	0.893998	0.83252	D	0.936276874824718	0.93419	12.028	0.879112616932269	0.94596	12.88621	0.99999999999936	0.74766	0.740716	0.97744	0	0.672317	0.65289	0	0.0	0.00061	3	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	7.197000	0.77336	.	.	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.894000	0.43146	0.0:0.0:0.0:1.0	14.295	0.65858	934	0.15400	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	6322.68	40	chr6	32843017	.	T	A	6322.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.07;DP=1067;ExcessHet=0.3300;FS=2.252;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=17.81;ReadPosRankSum=-8.850e-01;SOR=0.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485	18	0	3	0
chr6	32858130	32858130	G	C	exonic	PSMB9	.	nonsynonymous SNV	PSMB9:NM_002800:exon4:c.G386C:p.G129A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.984	D	0.000	D	1.000	D	2.005	M	1.98	T	-1.064	T	0.078	T	0.338	3.894	19.80	4.0	1.280	5.289	10.929	0.254	0.0151531328474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	1.573e-05	1.362e-06	0	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.54683	D	0.109	0.38450	T	0.999	0.77913	D	0.984	0.76113	D	0.000013	0.62929	D	0.112750	0.999994	0.58761	D	2.245	0.63543	M	1.98	0.21865	T	-5.5	0.88963	D	0.508	0.54322	-1.0644	0.10689	T	0.078	0.30982	T	10	0.59220564	0.66444	D	0.015153	0.35714	T	0.254	0.56428	0.67	0.80803	0.626386034836	0.62333	0.8369063062607006	0.83650	1.2898225746	0.82758	0.560316443443	0.47313	T	0.045347	0.61009	T	-0.092387	0.37681	T	-0.370484	0.36831	T	0.989562571048737	0.79793	D	.	.	.	0.48578802	0.66250	0.47647023	0.69666	0.48578802	0.66251	0.47647023	0.69667	-6.29	0.48642	T	.	.	0.206	0.44860	B	.;.;.	.;.;.	4.595437	0.72728	25.9	0.99810844485195949	0.89442	0.94619	0.61758	D	AEFBI	0.685921	0.64776	D	0.599113474010226	0.73119	5.914338	0.545569782763576	0.71089	5.602106	0.999998239765846	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.693144	0.63139	0	0.59522	0.37078	0	.	.	4.87	4.0	0.45673	5.276000	0.65391	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.769000	0.36481	0.0907:0.0:0.9093:0.0	10.929	0.46421	934	0.15400	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	120.13	40	chr6	32858130	.	G	C	120.13	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.401e+00;DP=973;ExcessHet=0.1072;FS=264.058;InbreedingCoeff=-0.0508;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.81;ReadPosRankSum=1.26;SOR=8.525	GT:AD:DP:GQ:PL	0/0:50,0:50:58:0,58,1236	19	0	2	0
chr6	32976351	32976351	C	T	exonic	BRD2	.	nonsynonymous SNV	BRD2:NM_001199455:exon5:c.C712T:p.L238F	.	.	421	1092	9	0	0	9	0.00410397	.	.	710441	BRD2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.67	T	0.901	P	0.565	P	0.000	D	1.000	D	1.025	L	3.31	T	-0.913	T	0.014	T	0.617	2.589	14.62	5.33	2.932	2.709	16.901	0.106	0.0077749894599	0.0047	0.00119808	0.0052	0.0005	0.0009	0.0005	0.0041	0.0084	0.0034	0.0018	0.004987	771	154602	rs176250	0.0046	0.0046	0.0045	0.0047	0.0049	0.0045	0.0045	0.0043	0.0043	0.0006	0.0014	0.0374	7.557e-05	0.0037	0.0049	0.0044	0.0058	0.0021	0.0048	0.0048	0.0048	0.0047	0.0064	0.0045	0.0044	0.0059	0.0057	0.0009	0.0779	0.0015	0.0357	0.0002	0.0019	0.0034	0.0064	0.0033	0.0023	0.353	0.15561	T	0.263	0.29153	T	0.813	0.45457	P	0.565	0.49728	P	0.000403	0.44736	D	0.000000	1	0.81001	D	1.655	0.42436	L	3.31	0.06602	T	-0.97	0.29933	N	0.403	0.44379	-0.9126	0.46531	T	0.014	0.05369	T	10	0.0048858523	0.00104	T	0.007775	0.20616	T	0.106	0.30130	.	.	0.312529679308	0.30857	0.24352432941052563	0.24266	.	.	0.671112000942	0.62996	T	0.159649	0.50317	T	-0.422017	0.01661	T	-0.373425	0.36488	T	0.0269985385223001	0.01544	T	0.647735	0.25884	T	0.15953405	0.35832	0.19742976	0.43524	0.15953405	0.35831	0.19742976	0.43523	-5.348	0.40601	T	.	.	0.142	0.41047	B	.;.;.;.;.	.;.;.;.;.	3.590678	0.50670	23.0	0.99585318522222022	0.73277	0.95971	0.66952	D	AEFDBHCI	0.794105	0.72191	D	0.288115126983226	0.55546	3.718589	0.377759205152658	0.60194	4.204556	0.999999999999999	0.74766	0.645754	0.44609	0	0.672317	0.65289	0	0.696144	0.63334	0	0.638787	0.57140	0	.	.	5.33	5.33	0.75683	2.316000	0.43421	.	.	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	16.901	0.85980	906	0.23090	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	4571.98	115	chr6	32976351	.	C	T	4571.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.60;DP=2456;ExcessHet=0.0000;FS=0.760;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=-3.020e-01;SOR=0.641	GT:AD:DP:GQ:PL	0/1:211,182:393:99:4586,0,5376	20	0	1	0
chr6	33007137	33007137	C	A	exonic	HLA-DOA	.	nonsynonymous SNV	HLA-DOA:NM_002119:exon4:c.G692T:p.G231V,	.	.	408	1104	10	0	0	10	0.00450857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.986	D	0.754	P	0.000	D	1.000	D	3.125	M	4.34	T	-1.154	T	0.023	T	0.696	4.213	21.9	4.81	2.654	2.166	15.777	0.207	0.015832190313	0.0013	0.000199681	0.0018	0.0001	0.0015	0	0.0011	0.0026	0.0067	0.0008	0.0015912	246	154602	rs141887419	0.0013	0.0013	0.0013	0.0014	0.0040	0.0013	0.0013	0.0027	0.0023	0.0001	0.0015	0.0255	7.557e-05	0.0011	0.0040	0.0008	0.0026	0.0011	0.0014	0.0014	0.0014	0.0014	0.0020	0.0012	0.0012	0.0014	0.0012	2.405e-05	0	0.0020	0.0259	0	0.0016	0.0034	0.0010	0.0024	0.0002	0.0	0.91255	D	0.001	0.83351	D	0.986	0.61523	D	0.754	0.56161	P	0.000001	0.84330	D	0.055623	1	0.81001	D	.	.	.	4.34	0.02341	T	-5.85	0.88495	D	0.639	0.65159	-1.1539	0.00913	T	0.023	0.09968	T	10	0.008959204	0.00203	T	0.015832	0.36777	T	0.207	0.49555	.	.	0.245101548738	0.24120	0.466580494877547	0.46577	0.867106616012	0.69253	0.340403318405	0.16499	T	0.235749	0.60308	T	-0.294374	0.09201	T	-0.220252	0.52714	T	0.077117112410018	0.09614	T	.	.	.	0.43390742	0.63007	0.31397367	0.57392	0.43390742	0.63008	0.31397367	0.57391	-10.808	0.78594	D	.	.	0.163	0.35931	B	.	.	3.530082	0.49522	22.8	0.99701618943290538	0.80660	0.96381	0.68860	D	AEFDBI	0.501753	0.53446	D	0.686312535578109	0.78735	6.931957	0.625188012090597	0.76776	6.553385	0.999998229885003	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	4.81	4.81	0.61401	1.983000	0.40270	.	.	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.757000	0.36037	0.0:1.0:0.0:0.0	15.777	0.78003	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1650.11	33	chr6	33007137	.	C	A	1650.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.176e+00;DP=842;ExcessHet=0.1072;FS=4.308;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=1.51;SOR=1.085	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1286	19	0	2	0
chr6	33007507	33007507	G	T	exonic	HLA-DOA	.	nonsynonymous SNV	HLA-DOA:NM_002119:exon3:c.C417A:p.F139L,	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.994	D	0.000	D	0.999	D	3.515	H	3.96	T	-0.191	T	0.372	T	0.656	3.850	19.56	3.77	1.312	0.731	7.216	0.155	0.0609974231723	.	0.000399361	7.77e-05	0	0.0003	0	0	9.495e-05	0	0	8.41e-05	13	154602	rs531000118	5.751e-05	5.746e-05	6.131e-05	5.367e-05	0.0005	4.747e-05	4.37e-05	0.0001	0.0001	0	0.0002	0	0	0	0.0005	4.856e-05	0.0001	9.276e-05	6.564e-05	6.561e-05	0.0001	2.685e-05	0.0002	3.513e-05	2.614e-05	5.277e-05	2.833e-05	2.405e-05	0	0.0002	0	0	0	0	8.82e-05	0	0	0.003	0.68238	D	0.01	0.65728	D	0.969	0.56768	D	0.721	0.54900	P	0.000039	0.55875	D	0.126169	0.998763	0.45406	D	3.17	0.88688	M	3.96	0.03354	T	-3.73	0.70920	D	0.557	0.58202	-0.1906	0.77912	T	0.372	0.73129	T	10	0.40746152	0.55992	T	0.060997	0.68186	D	0.260	0.57221	0.728	0.86198	0.211220785272	0.20719	0.5410917202398925	0.54034	0.972564744094	0.73426	0.453698754311	0.32450	T	0.209443	0.56966	T	-0.208857	0.19540	T	-0.240225	0.50777	T	0.871135473251343	0.52103	D	.	.	.	0.35105264	0.57149	0.2190305	0.46627	0.35105264	0.57149	0.2190305	0.46626	-11.984	0.84773	D	.	.	0.965	0.88734	P	.	.	4.118411	0.61538	24.3	0.99843801070544047	0.92403	0.72581	0.35521	D	AEFDBHCI	0.262522	0.38025	N	0.350911173211481	0.58787	4.053266	0.297254650590521	0.55380	3.700984	0.903395419987923	0.26151	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	4.64	3.77	0.42499	0.807000	0.26800	.	.	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1954:0.0:0.8046:0.0	7.216	0.25135	895	0.25842	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1978.98	79	chr6	33007507	.	G	T	1978.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.141e+00;DP=1501;ExcessHet=0.0000;FS=5.375;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.37;ReadPosRankSum=0.638;SOR=1.072	GT:AD:DP:GQ:PL	0/0:120,0:120:99:0,120,1800	20	0	1	0
chr6	33007509	33007509	A	G	exonic	HLA-DOA	.	nonsynonymous SNV	HLA-DOA:NM_002119:exon3:c.T415C:p.F139L,	.	.	427	1066	29	0	0	29	0.0134197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.994	D	0.000	D	1.000	D	3.515	H	3.96	T	0.211	D	0.499	T	0.656	4.779	26.9	4.64	2.076	3.940	12.366	0.239	.	0.0009	0.00519169	0.0045	0.0002	0.0055	0.0015	0.0003	0.0028	0.0115	0.0155	0.0039197	606	154602	rs34987694	0.0028	0.0028	0.0022	0.0033	0.0163	0.0027	0.0026	0.0156	0.0153	0.0002	0.0052	0.0194	0.0007	0.0002	0.0104	0.0013	0.0050	0.0163	0.0024	0.0024	0.0022	0.0027	0.0141	0.0022	0.0022	0.0114	0.0104	0.0003	0	0.0052	0.0181	0.0004	9.418e-05	0.0102	0.0020	0.0033	0.0141	0.003	0.68238	D	0.01	0.65728	D	0.969	0.56768	D	0.721	0.54900	P	0.000039	0.55875	D	0.126169	0.999637	0.47961	D	3.17	0.88688	M	3.96	0.03354	T	-3.73	0.70920	D	0.557	0.58202	0.211	0.86088	D	0.499	0.81067	T	10	0.012116015	0.00262	T	.	.	.	0.239	0.54358	0.728	0.86198	0.21279746466	0.20884	0.5410917064688581	0.54034	0.972564744094	0.73426	0.453698754311	0.32450	T	0.209443	0.56966	T	-0.307338	0.07984	T	-0.201922	0.54464	T	0.0857759117301687	0.10708	T	.	.	.	0.5378518	0.69276	0.30170494	0.56203	0.5378518	0.69277	0.30170494	0.56202	-11.984	0.84773	D	.	.	0.965	0.88734	P	.	.	4.808168	0.78192	26.8	0.99867403067161387	0.94547	0.84875	0.43968	D	AEFDBHCI	0.812788	0.73543	D	0.505219025233158	0.67399	5.076327	0.47405946779811	0.66277	4.931049	0.999998788976186	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	4.64	4.64	0.57399	5.771000	0.68535	.	.	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	12.366	0.54558	895	0.25842	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1523.98	79	chr6	33007509	.	A	G	1523.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.600e-02;DP=1510;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.51;ReadPosRankSum=-1.014e+00;SOR=0.666	GT:AD:DP:GQ:PL	0/0:120,0:120:99:0,120,1800	20	0	1	0
chr6	33009521	33009521	C	T	exonic	HLA-DOA	.	nonsynonymous SNV	HLA-DOA:NM_002119:exon1:c.G16A:p.G6R,	.	.	414	1093	14	1	0	16	0.00726612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.002	B	0.001	B	0.935	N	0.999	N	1.01	L	4.69	T	-0.912	T	0.002	T	0.345	0.673	7.600	2.35	0.419	0.406	7.006	0.043	.	0.0006	0.00638978	0.0090	0.0011	0.0003	0.0016	0	0.0004	0.0070	0.0582	0.0055756	862	154602	rs144931749	0.0030	0.0031	0.0017	0.0044	0.0471	0.0029	0.0029	0.0459	0.0454	0.0005	6.8e-05	0.0013	0.0008	0	0.0006	9.555e-05	0.0035	0.0471	0.0017	0.0017	0.0010	0.0024	0.0426	0.0015	0.0015	0.0378	0.0360	0.0003	0	0.0001	0.0017	0.0021	0	0	0.0003	0.0009	0.0426	0.041	0.56456	D	0.064	0.44905	T	0.002	0.09854	B	0.001	0.04355	B	0.935115	0.07559	N	1.030140	1	0.21461	N	1.6	0.40776	L	4.69	0.01694	T	-0.8	0.93217	N	0.219	0.24510	-0.9123	0.46569	T	0.002	0.00707	T	10	0.0037612617	0.00070	T	.	.	.	0.043	0.11576	0.659	0.79689	0.0666544352282	0.05500	0.3871789135276259	0.38632	0.29671546601	0.32059	0.303850293159	0.10977	T	0.067931	0.33328	T	-0.55443	0.00274	T	-0.534869	0.18803	T	0.006344079817748	0.00070	T	.	.	.	0.041086163	0.05984	0.074373156	0.16262	0.041086163	0.05984	0.074373156	0.16262	-4.924	0.36004	T	.	.	0.120	0.88388	B	.;.	.;.	1.141097	0.15283	11.73	0.94765504482633789	0.25480	0.02827	0.07567	N	ALL	0.070917	0.14097	N	-0.99233210088639	0.08767	0.412317	-0.999654222981667	0.09793	0.4893182	0.999999963873739	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.526665	0.08891	0	.	.	5.05	2.35	0.28166	0.522000	0.22617	.	.	-0.204000	0.08590	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.7218:0.0:0.2782	7.006	0.24014	895	0.25842	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	868.98	33	chr6	33009521	.	C	T	868.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.596;DP=791;ExcessHet=0.0000;FS=3.633;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.25;ReadPosRankSum=-2.118e+00;SOR=0.363	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1128	20	0	1	0
chr6	33069667	33069667	C	T	exonic	HLA-DPA1	.	nonsynonymous SNV	HLA-DPA1:NM_033554:exon2:c.G320A:p.R107H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.006	B	0.015	B	0.671	N	1.000	N	1.875	L	5.65	T	-0.975	T	0.002	T	0.555	-0.079	3.614	-0.691	-0.362	-0.093	7.763	0.132	0.0111131636767	0.0001	0.000199681	6.022e-05	0.0003	0	0.0001	0.0003	0	0.0011	0	5.17e-05	8	154602	rs149086826	2.534e-05	2.531e-05	2.726e-05	2.34e-05	2.995e-05	1.87e-05	1.632e-05	5.76e-06	4.55e-06	2.995e-05	2.236e-05	0	2.521e-05	0.0004	0	1.08e-05	3.314e-05	1.16e-05	4.598e-05	4.593e-05	2.571e-05	6.716e-05	0.0002	2.109e-05	1.526e-05	.	.	2.407e-05	0	6.546e-05	0	0	0.0003	0	1.47e-05	0	0.0002	0.063	0.40319	T	0.083	0.41405	T	0.006	0.13644	B	0.015	0.17295	B	0.670976	0.10342	N	0.825033	1	0.08975	N	1.62	0.41497	L	5.65	0.00784	T	-2.62	0.56466	D	0.082	0.05799	-0.9753	0.36059	T	0.002	0.00497	T	10	0.043142796	0.03133	T	0.011113	0.28394	T	0.132	0.35948	.	.	0.0138822411134	0.00435	0.2552421852615614	0.25438	0.599553595787	0.55070	0.243579596281	0.03122	T	0.006858	0.06286	T	-0.34345	0.05153	T	-0.482809	0.24147	T	0.0140855069987726	0.00274	T	.	.	.	0.05871771	0.11847	0.14348695	0.34099	0.05871771	0.11846	0.14348695	0.34098	-9.189	0.68905	D	.	.	0.091	0.13969	B	.;.	.;.	1.108176	0.14931	11.45	0.97570889442812847	0.34681	0.05701	0.11622	N	AEFDGBHCI	0.159367	0.28515	N	-1.06870506039676	0.07226	0.335019	-1.18420174802704	0.06173	0.296316	0.999989349103937	0.51787	0.758104	0.99027	0	0.672317	0.65289	0	0.691618	0.62860	0	0.579976	0.35079	0	.	.	3.19	-0.691	0.10737	-0.291000	0.08379	-12.031000	0.00556	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.134000	0.19723	0.0:0.6331:0.0:0.3669	7.763	0.28126	856	0.34373	MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	276.98	41	chr6	33069667	.	C	T	276.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.728;DP=826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.69;ReadPosRankSum=1.55;SOR=0.495	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1269	20	0	1	0
chr6	33085799	33085799	C	T	exonic	HLA-DPB1	.	nonsynonymous SNV	HLA-DPB1:NM_002121:exon4:c.C667T:p.R223W,	.	.	419	1097	5	1	0	7	0.00318037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.874	P	0.992	N	0.802	D	1.61	L	6.01	T	-0.680	T	0.003	T	0.5	3.286	17.04	2.14	0.411	-0.114	5.081	0.104	0.0269647197492	0.0002	.	0.0002	0.0002	0	0.0001	0	0.0003	0	0	0.0001488	23	154602	rs142745911	6.704e-05	6.704e-05	5.446e-05	7.976e-05	0.0012	5.629e-05	5.172e-05	0.0006	0.0004	5.975e-05	0	0	0	0	0.0012	7.195e-05	9.936e-05	3.478e-05	3.944e-05	3.94e-05	5.14e-05	2.692e-05	4.83e-05	1.716e-05	1.13e-05	1.171e-05	6.25e-06	4.83e-05	0	0	0	0	0	0.0032	4.41e-05	0	0	0.0	0.91255	D	0.203	0.28764	T	0.997	0.70673	D	0.715	0.54683	P	0.991660	0.07906	N	1.004450	0.995256	0.23928	N	1.42	0.35681	L	6.01	0.00635	T	-1.97	0.53898	N	0.36	0.40164	-0.6798	0.61382	T	0.003	0.00961	T	10	0.090687186	0.15821	T	0.026965	0.49829	D	0.104	0.29647	.	.	0.512883945787	0.50929	0.5349733873381893	0.53422	1.43770971806	0.85914	0.186308205128	0.00167	T	0.041535	0.25890	T	-0.325755	0.06437	T	-0.426266	0.30360	T	0.1035309258559	0.12741	T	.	.	.	0.091748655	0.21506	0.110028096	0.26524	0.091748655	0.21506	0.110028096	0.26524	-5.988	0.46179	T	.	.	0.091	0.18456	B	.;.	.;.	2.854550	0.37700	20.6	0.99889604522134456	0.96359	0.09110	0.14931	N	AEFBHCI	0.267326	0.38406	N	-0.110918993362022	0.36918	2.140464	-0.279375003480411	0.28779	1.607224	0.999887738548008	0.44867	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.03	2.14	0.26518	0.044000	0.13876	-3.554000	0.02700	0.589000	0.31548	0.000000	0.06391	0.000000	0.08366	0.833000	0.39279	0.2234:0.666:0.0:0.1106	5.081	0.13991	851	0.35303	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	957.98	35	chr6	33085799	.	C	T	957.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.21;DP=1012;ExcessHet=0.0000;FS=3.025;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=0.158;SOR=1.032	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1417	20	0	1	0
chr6	33196472	33196472	C	T	exonic	RXRB	.	nonsynonymous SNV	RXRB:NM_001291989:exon4:c.G385A:p.V129I	.	.	414	1097	11	0	0	11	0.00498866	.	.	2693339	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.3	T	0.136	B	0.029	B	0.407	N	0.743	D	0.55	N	-0.45	T	-0.648	T	0.356	T	0.101	1.989	12.61	4.03	1.286	0.609	6.722	0.107	0.0136837423552	.	0.000199681	0.0002	0	0.0003	0	0	0.0003	0	0.0003	0.0001682	26	154602	rs201059237	0.0001	0.0001	0.0001	0.0001	0.0031	0.0001	0.0001	0.0020	0.0017	0	0.0006	0	2.519e-05	0	0.0031	0.0001	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0007	0.0005	9.623e-05	0	0.0010	0	0	9.411e-05	0	0.0001	0	0.0002	0.384	0.11050	T	0.547	0.09522	T	0.059	0.23051	B	0.004	0.10090	B	0.407263	0.13044	N	0.738124	0.743221	0.33846	D	0.275	0.09989	N	-0.45	0.69896	T	-0.34	0.12661	N	0.087	0.06454	-0.6483	0.62788	T	0.356	0.71881	T	10	0.023199797	0.00600	T	0.013684	0.33266	T	0.107	0.30369	.	.	0.375737878683	0.37188	0.06156134391304991	0.06096	0.829311628033	0.67554	0.359082013369	0.19251	T	0.31551	0.68711	T	-0.423917	0.01615	T	-0.49267	0.23112	T	0.0132337005695554	0.00235	T	.	.	.	0.026787026	0.01782	0.0640791	0.12789	0.026787026	0.01782	0.0640791	0.12788	-5.546	0.42434	T	.	.	0.075	0.05668	B	.;.	.;.	2.204808	0.28123	17.69	0.98556971412200456	0.42922	0.95998	0.67072	D	AEFBI	0.298442	0.40776	N	-0.326501520660418	0.28144	1.549971	-0.150317486408982	0.33397	1.910	0.999512270289824	0.40117	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.9	4.03	0.46115	0.537000	0.22854	1.031000	0.23480	0.589000	0.31548	0.682000	0.28457	1.000000	0.68203	0.996000	0.76049	0.0:0.7251:0.1799:0.095	6.722	0.22525	814	0.42100	Nuclear hormone receptor, ligand-binding domain;Nuclear hormone receptor, ligand-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	671.98	37	chr6	33196472	.	C	T	671.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.208;DP=786;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.62;ReadPosRankSum=-1.097e+00;SOR=0.613	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,983	20	0	1	0
chr6	33211285	33211285	G	A	exonic	RING1	.	nonsynonymous SNV	RING1:NM_002931:exon5:c.G583A:p.A195T,	.	.	402	1104	16	0	0	16	0.00719424	.	.	2213135	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.41	T	0.0	B	0.001	B	0.070	N	0.945	D	0.345	N	-1.75	D	-1.034	T	0.133	T	0.074	0.755	7.997	1.29	0.458	1.322	5.246	0.072	0.0134455548713	0.0005	0.000998403	0.0009	0.0002	0.0015	0.0002	0	0.0010	0.0023	0.0009	0.0007503	116	154602	rs149445528	0.0007	0.0007	0.0006	0.0007	0.0111	0.0007	0.0006	0.0089	0.0081	0.0001	0.0011	0.0090	5.04e-05	0	0.0111	0.0005	0.0012	0.0006	0.0006	0.0007	0.0006	0.0007	0.0015	0.0005	0.0005	0.0010	0.0009	2.425e-05	0	0.0015	0.0081	0.0002	0	0.0034	0.0005	0.0009	0.0010	0.614	0.05404	T	0.783	0.04288	T	0.0	0.02946	B	0.001	0.04355	B	0.069904	0.21574	N	0.397179	0.944905	0.37467	D	0	0.06538	N	-1.75	0.83495	D	0.73	0.02068	N	0.156	0.16168	-1.0338	0.19236	T	0.133	0.44544	T	10	0.0042042136	0.00084	T	0.013446	0.32862	T	0.072	0.21020	.	.	0.377143385212	0.37329	0.12279097114794765	0.12205	0.549617653445	0.51857	0.731486678123	0.71723	T	0.040972	0.25705	T	-0.452123	0.01097	T	-0.472661	0.25230	T	0.00472563817380781	0.00051	T	.	.	.	0.042982373	0.06616	0.084812395	0.19538	0.042982373	0.06616	0.084812395	0.19538	-3.856	0.21644	T	.	.	0.066	0.02065	B	.	.	2.355580	0.30207	18.36	0.851505894610881	0.15716	0.57302	0.30341	D	AEFDBCI	0.090074	0.18254	N	-0.540804323890847	0.20772	1.097571	-0.391984423634195	0.25235	1.386541	0.998708718549784	0.37498	0.651	0.46895	0	0.606735	0.50208	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.33	1.29	0.20717	0.633000	0.24289	5.624000	0.49094	0.606000	0.46413	0.312000	0.25432	1.000000	0.68203	0.991000	0.66497	0.3937:0.0:0.6063:0.0	5.246	0.14813	712	0.56465	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1103.98	33	chr6	33211285	.	G	A	1103.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.955e+00;DP=758;ExcessHet=0.0000;FS=5.374;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.00;ReadPosRankSum=1.64;SOR=0.263	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1300	20	0	1	0
chr6	33290759	33290759	G	A	exonic	PFDN6	.	nonsynonymous SNV	PFDN6:NM_001185181:exon4:c.G304A:p.E102K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.242	B	0.105	B	0.000	D	1.000	D	1.955	M	0.96	T	-1.100	T	0.065	T	0.42	4.848	27.6	5.48	2.852	7.734	14.730	0.146	0.00911041460856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.41096	D	0.272	0.22223	T	0.242	0.30930	B	0.105	0.31087	B	0.000004	0.62929	D	0.063340	0.999999	0.81001	D	2.69	0.78713	M	0.96	0.42888	T	-3.09	0.63438	D	0.37	0.47672	-1.0999	0.04103	T	0.065	0.26807	T	10	0.27768373	0.45335	T	0.00911	0.23965	T	0.146	0.38789	0.519	0.62066	0.653503008778	0.65061	0.6706943270195986	0.67007	1.77042804158	0.91275	0.699030160904	0.67004	T	0.137674	0.47074	T	-0.0465533	0.44969	T	-0.304647	0.44230	T	0.988594949245453	0.78907	D	.	.	.	0.4822956	0.66040	0.5144262	0.71943	0.4822956	0.66040	0.5144262	0.71943	-7.744	0.59313	D	.	.	0.355	0.57060	A	.;.;.;.	.;.;.;.	4.904231	0.80630	27.4	0.99908110728924993	0.97801	0.93767	0.59133	D	AEFBCI	0.948263	0.95969	D	0.259437622081074	0.54108	3.577192	0.409164941987191	0.62136	4.423968	0.999999999999615	0.74766	0.766844	0.99359	0	0.685571	0.66316	0	0.851219	0.99655	0	0.735409	0.98432	0	.	.	5.48	5.48	0.80675	8.311000	0.89893	11.789000	0.96319	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	14.730	0.68987	653	0.62661	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1977.98	45	chr6	33290759	.	G	A	1977.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=980;ExcessHet=0.0000;FS=2.573;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=0.401;SOR=0.551	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr6	33297033	33297033	A	C	exonic	RGL2	.	nonsynonymous SNV	RGL2:NM_004761:exon3:c.T239G:p.L80W,	.	.	.	.	.	.	.	.	.	0.0004	0.038	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.876	P	0.221	B	0.073	N	1.000	D	1.1	L	2.77	T	-0.962	T	0.010	T	0.295	1.987	12.60	0.488	0.202	-0.060	6.461	0.086	0.00528493007512	0.0002	.	0.0002	0	8.706e-05	0	0	0.0003	0.0012	0	0.000194	30	154602	rs139385178	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0002	0.0001	0	0.0002	0.0026	0	0	0.0005	0.0002	0.0004	8.661e-05	0.0002	0.0002	0.0003	0.0001	0.0003	0.0001	0.0001	0.0002	0.0001	4.825e-05	0	0.0001	0.0020	0	0	0	0.0003	0	0	0.023	0.48186	D	0.12	0.35970	T	0.876	0.48154	P	0.221	0.37837	B	0.073006	0.02272	N	1.969860	1	0.81001	D	0.695	0.17993	N	2.77	0.11407	T	0.31	0.11008	N	0.357	0.39861	-0.9624	0.38723	T	0.010	0.03627	T	10	0.017626762	0.00378	T	0.005285	0.13494	T	0.086	0.25016	.	.	0.383921772103	0.37999	0.4012227797257212	0.40037	0.887839185907	0.70081	0.390135377645	0.23689	T	0.02842	0.20594	T	-0.418712	0.01743	T	-0.54574	0.17737	T	0.0297025066751787	0.01944	T	.	.	.	0.07154659	0.15849	0.080445506	0.18198	0.07154659	0.15848	0.080445506	0.18198	-7.168	0.55251	T	.	.	0.092	0.17146	B	.;.	.;.	2.186056	0.27867	17.61	0.92899741465048247	0.22454	0.67889	0.33597	D	AEFDBCI	0.397860	0.47376	N	-0.121747489663462	0.36446	2.106806	-0.120908559241993	0.34547	1.988538	0.999997217120777	0.74766	0.660085	0.49399	0	0.662677	0.63036	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	4.44	0.488	0.16056	-0.207000	0.09388	0.464000	0.18647	0.743000	0.86499	0.546000	0.27314	0.002000	0.18203	0.999000	0.91618	0.6438:0.0:0.3562:0.0	6.461	0.21154	653	0.62661	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2015.98	33	chr6	33297033	.	A	C	2015.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.016e+00;DP=878;ExcessHet=0.0000;FS=1.944;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=0.063;SOR=0.630	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1342	20	0	1	0
chr6	33303829	33303829	C	G	exonic	TAPBP	.	nonsynonymous SNV	TAPBP:NM_172208:exon7:c.G1461C:p.W487C,	Bare lymphocyte syndrome, type I, Autosomal recessive	.	0	1476	44	2	0	48	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.001	B	0.002	B	.	.	1.000	N	.	.	1.32	T	-0.990	T	0.022	T	0.101	1.555	11.15	0.854	0.168	-0.086	2.115	0.026	.	0.0020	0.00279553	0.0052	0.0026	0.0055	0.0056	0.0021	0.0032	0.0072	0.0115	0.0019211	297	154602	rs145837211	0.0016	0.0016	0.0014	0.0018	0.0127	0.0016	0.0015	0.0103	0.0095	0.0031	0.0027	0.0051	0.0014	0.0010	0.0127	0.0009	0.0022	0.0077	0.0020	0.0020	0.0017	0.0022	0.0048	0.0018	0.0017	0.0033	0.0028	0.0020	0	0.0021	0.0072	0.0025	0.0006	0.0204	0.0015	0.0043	0.0048	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.32	0.35219	T	-0.23	0.10656	N	0.176	0.18920	-0.9904	0.32500	T	0.022	0.09559	T	8	0.003785193	0.00071	T	.	.	.	0.026	0.05648	0.584	0.71118	0.0986583533028	0.09354	0.2775634209155518	0.27669	1.37107048066	0.84535	0.263246119022	0.05283	T	0.006466	0.05902	T	-0.578465	0.00197	T	-0.598856	0.12908	T	0.0680362654739556	0.08373	T	0.49795	0.15494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.59622	A	.	.	0.513929	0.08826	5.606	0.94410838252651941	0.24808	0.04522	0.10151	N	AEFBCI	0.030595	0.03109	N	-0.883694909074238	0.11230	0.5408289	-0.971091330464309	0.10438	0.5257059	0.98929254224207	0.31780	0.631515	0.41029	0	0.697927	0.68747	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	3.64	0.854	0.18144	-0.061000	0.11650	0.068000	0.14222	0.589000	0.31548	0.001000	0.13787	0.000000	0.08366	0.021000	0.11733	0.1946:0.4782:0.2117:0.1155	2.115	0.03486	649	0.63102	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1817.98	33	chr6	33303829	.	C	G	1817.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=875;ExcessHet=0.0000;FS=1.842;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.04;ReadPosRankSum=1.25;SOR=0.843	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1221	20	0	1	0
chr6	33313730	33313730	G	A	exonic	TAPBP	.	nonsynonymous SNV	TAPBP:NM_003190:exon2:c.C172T:p.P58S	Bare lymphocyte syndrome, type I, Autosomal recessive	.	0	1512	9	1	0	11	0.00362438	.	.	1095016	MHC_class_I_deficiency	MONDO:MONDO:0011476,MedGen:C1858266,OMIM:PS604571,Orphanet:34592	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.23	T	1.0	D	0.989	D	0.002	N	1.000	N	2.24	M	1.24	T	-0.978	T	0.160	T	0.292	0.727	7.868	2.33	0.495	1.253	5.104	0.142	0.0217348737721	7.7e-05	0.000199681	0.0004	0	8.702e-05	0	0	0.0001	0	0.0025	0.0003363	52	154602	rs376978188	0.0002	0.0002	0.0002	0.0003	0.0024	0.0002	0.0002	0.0021	0.0020	0	0	0	0	0	0.0014	6.205e-05	0.0004	0.0024	0.0001	0.0001	7.71e-05	0.0002	0.0027	8.662e-05	7.254e-05	0.0016	0.0013	2.407e-05	0	0	0	0	0	0	8.824e-05	0	0.0027	0.216	0.43708	T	0.0	0.92824	D	1.0	0.90584	D	0.946	0.68276	D	0.001661	0.38382	N	0.266915	0.999987	0.18198	N	.	.	.	1.24	0.54347	T	-2.96	0.61722	D	0.312	0.55019	-0.9778	0.35503	T	0.160	0.49480	T	10	0.009890825	0.00222	T	0.021735	0.44549	T	0.142	0.37995	.	.	0.526181570707	0.52266	0.39210095666550154	0.39125	0.86453056222	0.69148	0.517690479755	0.41301	T	0.026153	0.22470	T	-0.432807	0.01426	T	-0.400021	0.33382	T	0.118213823911091	0.14254	T	0.909009	0.67793	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.23952	B	.;.;.;.;.	.;.;.;.;.	2.085646	0.26530	17.15	0.91888408213274131	0.21207	0.19247	0.20586	N	ALL	0.098142	0.19781	N	-0.242944736435292	0.31385	1.759335	-0.366370932047661	0.26006	1.433794	0.999999999762155	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.15	2.33	0.27981	1.128000	0.30982	4.272000	0.42850	-0.860000	0.02636	0.965000	0.33920	1.000000	0.68203	0.034000	0.13613	0.1082:0.0:0.687:0.2048	5.104	0.14111	628	0.65206	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1140.98	33	chr6	33313730	.	G	A	1140.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.15;DP=836;ExcessHet=0.0000;FS=1.676;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.30;ReadPosRankSum=-9.520e-01;SOR=0.527	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1446	20	0	1	0
chr6	33315817	33315817	G	A	exonic	ZBTB22	.	nonsynonymous SNV	ZBTB22:NM_001145338:exon2:c.C1100T:p.P367L	.	.	417	1098	7	0	0	7	0.00317749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.9	P	0.22	B	0.005	N	0.999	D	0.805	L	3.49	T	-0.710	T	0.006	T	0.532	0.740	7.926	4.09	2.107	3.861	13.851	0.085	0.0165891258494	0.0002	0.000998403	0.0007	9.615e-05	0.0002	0.0024	0	0.0005	0	0.0017	0.0006339	98	154602	rs144433957	0.0004	0.0004	0.0004	0.0005	0.0024	0.0004	0.0004	0.0015	0.0014	0.0001	0.0002	0.0037	0.0019	0	0.0024	0.0002	0.0007	0.0017	0.0003	0.0003	0.0003	0.0002	0.0019	0.0002	0.0002	0.0010	0.0007	0	0	0.0001	0.0020	0.0012	0	0.0034	0.0002	0.0009	0.0019	0.17	0.22833	T	0.377	0.16134	T	0.9	0.49598	P	0.22	0.37792	B	0.005015	0.33181	N	0.000000	0.998722	0.45339	D	0.805	0.20218	L	3.49	0.05071	T	-0.19	0.09965	N	0.134	0.13198	-0.7096	0.59972	T	0.006	0.01870	T	10	0.00542295	0.00119	T	0.016589	0.37919	T	0.085	0.24743	.	.	0.44318313171	0.43938	0.3568708772449162	0.35601	0.634268845006	0.57287	0.681673705578	0.64509	T	0.006876	0.06306	T	-0.467899	0.00876	T	-0.450739	0.27616	T	0.0370227934690009	0.03159	T	0.780822	0.41560	T	0.15056697	0.34271	0.21324982	0.45827	0.15056697	0.34270	0.21324982	0.45827	-3.056	0.10798	T	.	.	0.178	0.38782	B	.;.	.;.	2.784147	0.36579	20.3	0.81510298013693272	0.13721	0.69865	0.34358	D	AEFBCI	0.247420	0.36800	N	0.0393857772258344	0.43655	2.654243	0.101876411518386	0.44643	2.742195	0.999995624337189	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.26897	0.05253	2	0.636168	0.56350	0	.	.	4.09	4.09	0.47038	2.641000	0.46254	7.439000	0.58857	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	13.851	0.62994	616	0.66398	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1347.98	34	chr6	33315817	.	G	A	1347.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=793;ExcessHet=0.0000;FS=0.794;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.15;ReadPosRankSum=0.965;SOR=0.818	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,110,1259	20	0	1	0
chr6	33320019	33320019	G	C	exonic	DAXX	.	nonsynonymous SNV	DAXX:NM_001254717:exon4:c.C1232G:p.A411G	.	.	391	1087	42	2	0	46	0.0207207	.	.	721989	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.38	T	0.033	B	0.036	B	0.016	N	1.000	N	0	N	3.55	T	-0.911	T	0.003	T	0.08	0.397	6.154	-1.84	-0.398	0.288	6.405	0.007	.	0.0068	0.00858626	0.0093	0.0017	0.0040	0.0069	0.0020	0.0096	0.0113	0.0208	0.0014553	225	154602	rs146304558	0.0086	0.0086	0.0082	0.0091	0.0195	0.0085	0.0085	0.0187	0.0184	0.0015	0.0041	0.0211	0.0028	0.0015	0.0147	0.0085	0.0079	0.0195	0.0061	0.0061	0.0065	0.0056	0.0195	0.0057	0.0056	0.0163	0.0151	0.0014	0	0.0045	0.0193	0.0035	0.0020	0.0102	0.0085	0.0066	0.0195	0.119	0.28520	T	0.26	0.25061	T	0.033	0.20350	B	0.036	0.22909	B	0.016189	0.01435	N	2.621750	1	0.08975	N	0.69	0.16971	N	3.55	0.04746	T	-0.06	0.07882	N	0.184	0.20793	-0.9107	0.46768	T	0.003	0.00864	T	10	0.0019952655	0.00028	T	.	.	.	0.007	0.00512	.	.	0.248133497653	0.24425	0.027666118405061925	0.02716	0.121482305257	0.13691	0.293815732002	0.09482	T	0.228165	0.59364	T	-0.661	0.00062	T	-0.706662	0.05469	T	0.000391966671527189	0.00003	T	.	.	.	0.034339648	0.03834	0.07082536	0.15094	0.05050827	0.09134	0.07082536	0.15093	-3.71	0.20969	T	.	.	0.082	0.13737	B	.;.;.;.	.;.;.;.	1.618229	0.20675	14.86	0.62516084524372117	0.06983	0.23889	0.22220	N	AEFGBHCI	0.064341	0.12488	N	-1.30553392466674	0.03611	0.1616189	-1.30836099513516	0.04321	0.203565	0.999932882190131	0.46732	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.635259	0.50027	0	.	.	4.03	-1.84	0.07387	0.387000	0.20445	0.426000	0.18273	0.650000	0.52971	0.271000	0.25055	0.184000	0.23444	0.944000	0.48669	0.1501:0.0:0.4955:0.3544	6.405	0.20865	587	0.69154	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	2863.68	38	chr6	33320019	.	G	C	2863.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.230e-01;DP=978;ExcessHet=0.3300;FS=4.934;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=-1.085e+00;SOR=0.750	GT:AD:DP:GQ:PL	0/1:66,39:105:99:988,0,1588	18	0	3	0
chr6	33404029	33404029	G	A	exonic	KIFC1	.	nonsynonymous SNV	KIFC1:NM_002263:exon6:c.G656A:p.R219Q,	.	.	412	1067	42	1	0	44	0.020202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.013	B	0.002	B	0.587	N	1.000	N	0.69	N	-1.33	T	-1.034	T	0.099	T	0.056	-0.001	4.009	0.297	0.173	-0.349	3.114	0.108	.	0.0066	0.00898562	0.0089	0.0020	0.0035	0.0065	0.0018	0.0093	0.0088	0.0199	0.0084928	1313	154602	rs61736175	0.0085	0.0085	0.0080	0.0090	0.0182	0.0083	0.0083	0.0174	0.0171	0.0017	0.0039	0.0223	0.0027	0.0014	0.0135	0.0083	0.0078	0.0182	0.0061	0.0061	0.0065	0.0056	0.0184	0.0057	0.0056	0.0153	0.0142	0.0016	0	0.0041	0.0199	0.0035	0.0020	0.0136	0.0085	0.0066	0.0184	0.62	0.05309	T	0.58	0.08505	T	0.013	0.16609	B	0.002	0.06944	B	0.587486	0.11082	N	0.821323	1	0.08975	N	1.32	0.33002	L	-1.33	0.79854	T	0.75	0.02007	N	0.086	0.06322	-1.0342	0.19109	T	0.099	0.36983	T	10	0.0032759309	0.00056	T	.	.	.	0.108	0.30607	.	.	0.758637590366	0.75644	0.18763110196947	0.18681	0.447445100316	0.44600	0.210918799043	0.00851	T	0.014264	0.12177	T	-0.541748	0.00327	T	-0.536024	0.18690	T	0.000301284946156845	0.00002	T	.	.	.	0.0146959955	0.00104	0.028547987	0.01101	0.0146959955	0.00104	0.028547987	0.01101	-4.48	0.30626	T	.	.	0.064	0.01622	B	.	.	0.249347	0.06286	2.745	0.89166591148968233	0.18567	0.08586	0.14495	N	AEFBCI	0.078759	0.15897	N	-1.02043871544408	0.08180	0.3826558	-1.00375510592156	0.09703	0.4842453	0.992500774861752	0.32863	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.17	0.297	0.15011	-0.310000	0.08175	-0.120000	0.11732	-0.123000	0.13640	0.002000	0.15269	0.000000	0.08366	0.040000	0.14268	0.3968:0.0:0.4018:0.2014	3.114	0.05984	369	0.84396	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	4803.68	34	chr6	33404029	.	G	A	4803.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=3.62;DP=1025;ExcessHet=0.3300;FS=1.735;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.09;ReadPosRankSum=-3.650e-01;SOR=0.788	GT:AD:DP:GQ:PL	0/1:68,49:117:99:1420,0,1797	18	0	3	0
chr6	33405054	33405054	T	C	exonic	KIFC1	.	nonsynonymous SNV	KIFC1:NM_002263:exon7:c.T959C:p.V320A,	.	.	402	1105	13	2	0	17	0.00763359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.016	B	0.015	B	0.017	N	0.948	D	-0.025	N	1.0	T	-1.057	T	0.022	T	0.163	2.195	13.30	4.26	2.279	2.081	5.338	0.080	0.00316937780823	0.0002	0.00199681	0.0010	9.649e-05	0.0006	0.0028	0	0.0007	0	0.0029	0.0009832	152	154602	rs149106445	0.0006	0.0006	0.0005	0.0007	0.0047	0.0006	0.0005	0.0033	0.0028	0.0001	0.0005	0.0038	0.0021	0	0.0047	0.0003	0.0011	0.0027	0.0004	0.0004	0.0004	0.0004	0.0031	0.0004	0.0003	0.0019	0.0015	4.81e-05	0	0.0004	0.0026	0.0014	0	0.0102	0.0003	0.0014	0.0031	0.13	0.26740	T	0.176	0.29843	T	0.016	0.17332	B	0.015	0.17295	B	0.016577	0.27944	N	0.371861	0.948109	0.37596	D	0.365	0.12025	N	1.0	0.41392	T	-1.82	0.42763	N	0.12	0.11054	-1.0574	0.12414	T	0.022	0.09330	T	10	0.008636802	0.00196	T	0.003169	0.06936	T	0.080	0.23350	.	.	0.504541157375	0.50091	0.4630334206756604	0.46222	0.481891860051	0.47163	0.637899279594	0.58265	T	0.036619	0.24171	T	-0.522888	0.00423	T	-0.528172	0.19469	T	0.00617480142371303	0.00068	T	.	.	.	0.103075996	0.24361	0.10514459	0.25270	0.103075996	0.24361	0.10514459	0.25269	-4.085	0.25068	T	.	.	0.097	0.15966	B	.	.	2.926918	0.38873	20.8	0.98247475137208662	0.39539	0.70780	0.34733	D	AEFDBCI	0.093667	0.18950	N	-0.314474572505403	0.28597	1.578677	-0.101325459073743	0.35337	2.043223	0.999978134242809	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.43	4.26	0.49832	1.547000	0.35798	3.989000	0.40972	0.665000	0.62972	0.496000	0.26925	1.000000	0.68203	0.994000	0.71098	0.0:0.1839:0.0:0.8161	5.338	0.15274	366	0.84579	Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2254.98	33	chr6	33405054	.	T	C	2254.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=873;ExcessHet=0.0000;FS=5.169;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=-9.500e-01;SOR=1.007	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1422	20	0	1	0
chr6	33405564	33405564	C	T	exonic	KIFC1	.	nonsynonymous SNV	KIFC1:NM_002263:exon7:c.C1469T:p.A490V,	.	.	425	1066	29	2	0	33	0.0152425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.21	B	0.066	B	0.011	N	0.998	D	0.595	N	-0.93	T	-0.963	T	0.117	T	0.593	1.280	10.18	5.22	2.720	2.994	9.656	0.274	.	0.0072	0.00858626	0.0095	0.0052	0.0071	0.0127	0.0035	0.0092	0.0066	0.0184	0.0086739	1341	154602	rs7770412	0.0074	0.0074	0.0071	0.0077	0.0178	0.0073	0.0072	0.0150	0.0139	0.0065	0.0079	0.0186	0.0067	0.0024	0.0178	0.0068	0.0083	0.0140	0.0074	0.0074	0.0071	0.0077	0.0124	0.0070	0.0069	0.0099	0.0090	0.0056	0.0132	0.0096	0.0176	0.0073	0.0019	0.0204	0.0080	0.0052	0.0124	0.645	0.04928	T	0.674	0.06225	T	0.21	0.29968	B	0.066	0.27432	B	0.010904	0.29736	N	0.346115	0.998463	0.44953	D	0.49	0.13296	N	-0.93	0.75215	T	0.18	0.05035	N	0.187	0.20395	-0.9628	0.38645	T	0.117	0.41209	T	10	0.0070747435	0.00161	T	.	.	.	0.274	0.59007	.	.	0.81423568031	0.81249	0.16008107338493377	0.15929	0.439190015724	0.43938	0.518590450287	0.41427	T	0.076979	0.35547	T	-0.317038	0.07144	T	-0.215856	0.53135	T	0.0101235349817283	0.00136	T	.	.	.	0.0656567	0.14054	0.101992846	0.24433	0.0656567	0.14054	0.101992846	0.24432	-5.35	0.40435	T	.	.	0.088	0.11606	B	.	.	2.194937	0.27991	17.65	0.90275010401178402	0.19544	0.75607	0.37027	D	AEFBHCI	0.285867	0.39839	N	-0.053084565492623	0.39465	2.327701	0.137089740257219	0.46463	2.891774	0.999999981308219	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.22	5.22	0.72285	2.198000	0.42339	4.000000	0.41065	0.599000	0.40250	0.988000	0.36536	1.000000	0.68203	0.967000	0.53440	0.0:0.9081:0.0:0.0919	9.656	0.39087	366	0.84579	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1480.11	33	chr6	33405564	.	C	T	1480.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-7.200e-02;DP=819;ExcessHet=0.1072;FS=0.629;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.21;ReadPosRankSum=-1.260e-01;SOR=0.593	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1422	19	0	2	0
chr6	33443686	33443686	C	G	exonic	SYNGAP1	.	nonsynonymous SNV	SYNGAP1:NM_001130066:exon14:c.C3092G:p.A1031G	Mental retardation, autosomal dominant 5, Autosomal dominant	YES	1	1519	2	0	0	2	0.000657895	.	.	395244	Intellectual_disability,_autosomal_dominant_5|Inborn_genetic_diseases|not_provided|SYNGAP1-related_disorder	MONDO:MONDO:0012960,MedGen:C2675473,OMIM:612621|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.317	B	0.146	B	0.381	N	0.503	D	1.04	L	2.64	T	-0.981	T	0.011	T	0.168	1.643	11.45	3.19	0.906	3.032	6.907	0.024	.	.	0.00379393	0.0025	0.0001	0.0023	0.0310	0	4.607e-05	0	0	0.0021474	332	154602	rs139759084	0.0008	0.0008	0.0009	0.0008	0.0253	0.0008	0.0008	0.0240	0.0235	0	0.0026	0	0.0253	0	0.0003	9.893e-06	0.0012	9.275e-05	0.0013	0.0013	0.0011	0.0015	0.0270	0.0011	0.0011	0.0234	0.0220	0.0001	0	0.0027	0	0.0270	0	0	2.94e-05	0.0019	0	0.077	0.34269	T	0.375	0.17964	T	0.224	0.32920	B	0.066	0.33945	B	0.381211	0.13386	N	0.700444	0.502788	0.31755	D	0.895	0.22405	L	2.64	0.12780	T	-1.14	0.30762	N	0.122	0.11769	-0.9805	0.34886	T	0.011	0.04181	T	10	0.002538532	0.00038	T	.	.	.	0.024	0.04979	.	.	0.182106788282	0.17826	0.19469547739673357	0.19387	1.25117579951	0.81802	0.517065703869	0.41212	T	0.053143	0.29361	T	-0.573952	0.00210	T	-0.570759	0.15379	T	0.0121012419297249	0.00193	T	0.892111	0.62800	D	0.075084046	0.16893	0.1147146	0.27692	0.064548805	0.13705	0.114834115	0.27720	-3.246	0.14484	T	.	.	0.074	0.08754	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.633264	0.51480	23.1	0.98687264265153607	0.44709	0.95241	0.63962	D	AEFDBI	0.303555	0.41150	N	-0.203859866440724	0.32976	1.865678	-0.100853122219459	0.35356	2.044545	0.99994731375368	0.47345	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.528226	0.09195	0	.	.	4.09	3.19	0.35720	2.368000	0.43875	4.592000	0.43962	0.545000	0.25583	0.918000	0.31901	1.000000	0.68203	0.996000	0.76049	0.0:0.868:0.0:0.132	6.907	0.23493	490	0.76723	Domain of unknown function DUF3498;Domain of unknown function DUF3498;Domain of unknown function DUF3498;Domain of unknown function DUF3498;.;.;.;Domain of unknown function DUF3498	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1879.98	33	chr6	33443686	.	C	G	1879.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.85;DP=825;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.69;ReadPosRankSum=-2.480e-01;SOR=0.628	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1164	20	0	1	0
chr6	33657932	33657932	C	T	exonic	ITPR3	.	nonsynonymous SNV	ITPR3:NM_002224:exon4:c.C283T:p.H95Y,	.	.	.	.	.	.	.	.	.	0.9955	0.804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	P	0.304	B	0.000	D	1.000	D	3.07	M	-4.93	D	1.077	D	0.931	D	0.679	3.081	16.29	5.26	2.733	7.471	19.075	0.689	0.508431426648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-06	8.209e-06	8.171e-06	5.503e-06	8.996e-06	3.46e-06	2.52e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.996e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.004	0.74150	D	0.62	0.39915	P	0.304	0.41178	B	0.000090	0.51296	D	0.170517	1	0.81001	D	2.375	0.68372	M	-4.93	0.98390	D	-5.45	0.85468	D	0.503	0.55886	1.077	0.98795	D	0.931	0.97726	D	9	0.7577114	0.76109	D	0.508431	0.95263	D	0.689	0.88679	0.546	0.66015	0.996908982623	0.99687	0.5414931872076013	0.54074	1.83023166883	0.92039	0.894413471222	0.95797	D	0.938162	0.99008	D	0.329833	0.85154	D	0.236006	0.84959	D	0.976984620094299	0.71631	D	0.985501	0.95043	D	0.63245314	0.74429	0.63005626	0.78421	0.63245314	0.74430	0.63005626	0.78422	-6.844	0.52885	T	.	.	0.463	0.64490	A	.;.	.;.	4.289231	0.65400	24.8	0.99441824915825283	0.64820	0.99629	0.98146	D	AEFDGBI	0.907086	0.86066	D	0.488273298594556	0.66402	4.945721	0.475262309476526	0.66356	4.941289	0.99999999999972	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.688494	0.62686	0	0.714379	0.83352	0	.	.	5.26	5.26	0.73479	7.718000	0.83709	7.576000	0.60835	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.035000	0.13729	0.0:1.0:0.0:0.0	19.075	0.93139	537	0.73184	Inositol 1,4,5-trisphosphate/ryanodine receptor;Inositol 1,4,5-trisphosphate/ryanodine receptor	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1399.98	33	chr6	33657932	.	C	T	1399.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.053;DP=916;ExcessHet=0.0000;FS=2.235;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.29;ReadPosRankSum=-1.054e+00;SOR=0.942	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr6	33670361	33670361	C	A	exonic	ITPR3	.	nonsynonymous SNV	ITPR3:NM_002224:exon19:c.C2226A:p.D742E,	.	.	411	1081	28	2	0	32	0.0145852	.	.	699552	ITPR3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.19	T	0.999	D	0.996	D	0.000	D	0.997	D	1.755	L	-3.04	D	0.374	D	0.734	D	0.409	3.683	18.71	2.94	0.388	2.077	9.947	0.552	.	0.0050	0.0061901	0.0032	0.0129	0.0013	0.0020	0.0009	0.0013	0.0022	0.0076	0.0028654	443	154602	rs2229633	0.0016	0.0016	0.0014	0.0018	0.0110	0.0015	0.0015	0.0101	0.0097	0.0110	0.0028	0.0061	0.0013	0.0010	0.0092	0.0007	0.0019	0.0068	0.0045	0.0045	0.0047	0.0042	0.0114	0.0042	0.0041	0.0106	0.0102	0.0114	0	0.0031	0.0086	0.0021	0.0006	0.0034	0.0012	0.0047	0.0041	0.179	0.22053	T	0.147	0.32783	T	0.999	0.77913	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.997423	0.43877	D	2.305	0.65957	M	-3.04	0.92357	D	-3.0	0.62343	D	0.629	0.73735	0.374	0.88703	D	0.734	0.90891	D	10	0.0137833655	0.00291	T	.	.	.	0.552	0.81485	0.275	0.22687	0.934565858499	0.93389	0.6374912199327021	0.63683	1.17388174223	0.79838	0.734442591667	0.72156	T	0.672051	0.90277	D	-0.226168	0.17158	T	-0.0866196	0.64416	T	0.0238974007932212	0.01131	T	0.969303	0.88939	D	0.48998684	0.66502	0.24656922	0.50169	0.48998684	0.66503	0.24656922	0.50168	-10.948	0.79372	D	.	.	0.949	0.86952	P	.;.	.;.	3.926533	0.57362	23.8	0.9967623208858839	0.78912	0.93438	0.58217	D	AEFGBI	0.555448	0.56589	D	0.182642170245388	0.50367	3.227275	0.133167075273723	0.46257	2.87456	0.999966465697299	0.48965	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.81	2.94	0.33188	2.131000	0.41696	1.417000	0.26331	-0.187000	0.09635	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.8247:0.0:0.1753	9.947	0.40783	511	0.75131	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2684.98	33	chr6	33670361	.	C	A	2684.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.083;DP=957;ExcessHet=0.0000;FS=0.491;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.09;ReadPosRankSum=-3.840e-01;SOR=0.628	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1284	20	0	1	0
chr6	33684679	33684679	A	C	exonic	ITPR3	.	nonsynonymous SNV	ITPR3:NM_002224:exon38:c.A5128C:p.I1710L,	.	.	392	1128	2	0	0	2	0.00088574	.	.	2363639	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.63	T	0.0	B	0.0	B	0.586	N	1.000	N	-0.55	N	-2.81	D	-0.881	T	0.161	T	0.126	1.091	9.453	2.46	0.870	0.085	2.732	0.206	0.0380675637934	0.0004	0.000599042	0.0004	0.0017	0.0003	0.0005	0	0.0003	0.0011	0.0001	0.0003687	57	154602	rs142457410	0.0002	0.0002	0.0002	0.0002	0.0027	0.0002	0.0002	0.0022	0.0021	0.0027	0.0002	0.0006	0.0006	1.877e-05	0.0026	8.993e-05	0.0006	0.0001	0.0008	0.0008	0.0009	0.0007	0.0025	0.0007	0.0007	0.0018	0.0016	0.0021	0	0.0004	0	0.0025	0	0	0.0002	0.0005	0	0.599	0.05652	T	0.675	0.06205	T	0.0	0.02946	B	0.0	0.01387	B	0.585988	0.11096	N	0.828909	0.999933	0.19363	N	0.345	0.11182	N	-2.81	0.91134	D	-0.03	0.07444	N	0.137	0.13484	-0.8809	0.49689	T	0.161	0.49615	T	10	0.0077225566	0.00175	T	0.038068	0.57999	D	0.206	0.49396	0.285	0.24280	0.741985612866	0.73967	0.08154949090826664	0.08089	0.402967477826	0.41245	0.297224700451	0.09988	T	0.235959	0.60334	T	-0.41061	0.01969	T	-0.367827	0.37141	T	0.00321266900677983	0.00034	T	0.156584	0.01380	T	0.03949004	0.05463	0.031586662	0.01768	0.03949004	0.05462	0.031586662	0.01768	-1.483	0.01730	T	.	.	0.055	0.00420	B	.;.	.;.	1.209136	0.16017	12.26	0.92453981496221804	0.21879	0.21498	0.21423	N	AEFDGBI	0.090923	0.18421	N	-0.829689203348744	0.12556	0.6127401	-0.666181525301217	0.17809	0.9485948	0.89630953134356	0.25975	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	5.05	2.46	0.29032	-0.164000	0.09972	-1.014000	0.06603	0.740000	0.86194	0.000000	0.06391	0.000000	0.08366	0.792000	0.37394	0.5057:0.0:0.1924:0.3018	2.732	0.04906	508	0.75398	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2620.98	37	chr6	33684679	.	A	C	2620.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.072;DP=976;ExcessHet=0.0000;FS=4.335;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.70;ReadPosRankSum=-2.035e+00;SOR=0.768	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	20	0	1	0
chr6	33685425	33685425	C	T	exonic	ITPR3	.	nonsynonymous SNV	ITPR3:NM_002224:exon40:c.C5374T:p.R1792C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.977	D	0.000	D	1.000	D	2.785	M	-2.91	D	0.947	D	0.874	D	0.924	4.506	24.2	5.15	2.403	4.848	18.615	0.820	0.377037821578	.	.	0.0001	0	0	0.0001	0	0	0	0.0007	8.41e-05	13	154602	rs776949775	5.473e-05	5.472e-05	2.45e-05	8.526e-05	0.0007	4.477e-05	4.147e-05	0.0006	0.0005	0	8.947e-05	0	0	0	0	1.079e-05	1.656e-05	0.0007	4.598e-05	4.596e-05	2.568e-05	6.724e-05	0.0004	2.109e-05	1.526e-05	6.808e-05	2.85e-05	2.412e-05	0	0	0	0.0004	0	0	4.409e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-2.91	0.91696	D	-6.81	0.92942	D	0.855	0.87808	0.947	0.96352	D	0.874	0.95806	D	10	0.7636318	0.76535	D	0.377038	0.92882	D	0.820	0.94238	0.489	0.57415	0.96925740135	0.96892	0.6308086602069681	0.63014	1.36241963825	0.84364	0.824624836445	0.85739	D	0.83725	0.96171	D	0.188382	0.72816	D	0.400414	0.92128	D	0.584689080715179	0.35799	D	0.997242	0.98913	D	0.80061734	0.83945	0.428223	0.66542	0.80061734	0.83946	0.428223	0.66543	-8.992	0.67646	D	.	.	0.336	0.55658	B	.;.	.;.	5.503126	0.91608	32	0.99940426050368369	0.99767	0.91767	0.54220	D	AEFGBCI	0.764555	0.70131	D	0.717794757798599	0.80798	7.374976	0.660215330743747	0.79372	7.068788	0.999999974121021	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.15	5.15	0.70287	4.041000	0.57051	7.675000	0.64997	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	18.615	0.91254	509	0.75304	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2413.98	73	chr6	33685425	.	C	T	2413.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.493;DP=1616;ExcessHet=0.0000;FS=7.588;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.07;ReadPosRankSum=2.85;SOR=0.725	GT:AD:DP:GQ:PL	0/0:81,0:81:99:0,120,1800	20	0	1	0
chr6	33691818	33691818	A	G	exonic	ITPR3	.	nonsynonymous SNV	ITPR3:NM_002224:exon54:c.A7348G:p.S2450G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.0	B	0.002	B	0.220	N	0.998	N	0.17	N	-4.91	D	-0.114	T	0.606	D	0.12	0.831	8.351	2.17	0.372	0.725	7.398	0.248	0.020158584688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	0	4.125e-06	2.319e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	8.993e-07	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.06441	T	0.456	0.12740	T	0.0	0.02946	B	0.002	0.06944	B	0.219687	0.16168	N	0.660702	0.998017	0.22395	N	0.235	0.09667	N	-4.91	0.98352	D	-0.26	0.11185	N	0.123	0.11483	-0.1139	0.79777	T	0.606	0.86030	D	10	0.087097645	0.14870	T	0.020159	0.42696	T	0.248	0.55615	0.293	0.25560	0.86087754329	0.85952	0.22723139163491732	0.22638	0.634426790786	0.57297	0.316052138805	0.12823	T	0.517767	0.83077	D	0.0189041	0.54234	T	-0.210622	0.53635	T	0.0648851618170738	0.07914	T	0.651635	0.26249	T	0.04648566	0.07787	0.037053414	0.03278	0.04648566	0.07787	0.037053414	0.03278	-4.412	0.29719	T	.	.	0.061	0.01179	B	.;.	.;.	1.626272	0.20764	14.90	0.85562990613597933	0.15971	0.29979	0.23963	N	AEFGBCI	0.218741	0.34371	N	-0.752664607355254	0.14560	0.7263639	-0.630723656494468	0.18705	1.000444	0.99996819790157	0.48965	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.56	2.17	0.26736	1.337000	0.33467	0.825000	0.21891	0.756000	0.94297	0.001000	0.13787	0.005000	0.19230	0.977000	0.56843	0.8149:0.0:0.1851:0.0	7.398	0.26123	518	0.74548	Ion transport domain;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1228.98	39	chr6	33691818	.	A	G	1228.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.563;DP=881;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.07;ReadPosRankSum=0.542;SOR=0.688	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr6	33725487	33725487	G	T	exonic	IP6K3	.	nonsynonymous SNV	IP6K3:NM_054111:exon5:c.C719A:p.A240E	.	.	433	1075	14	0	0	14	0.0064695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.013	B	0.018	B	0.020	N	0.810	D	0.075	N	2.36	T	-0.989	T	0.007	T	0.119	0.699	7.731	3.71	1.374	2.616	12.059	0.046	0.0030904831184	0.0002	0.00119808	0.0006	0	0.0012	0.0002	0	0.0006	0.0034	0.0007	0.0005498	85	154602	rs144789373	0.0005	0.0005	0.0005	0.0005	0.0068	0.0005	0.0005	0.0051	0.0045	5.974e-05	0.0011	0.0044	5.038e-05	0	0.0068	0.0004	0.0009	0.0005	0.0005	0.0005	0.0004	0.0006	0.0016	0.0004	0.0004	0.0011	0.0010	2.405e-05	0	0.0016	0.0043	0.0004	0	0.0034	0.0004	0.0014	0.0004	1.0	0.00964	T	0.867	0.03342	T	0.013	0.16609	B	0.018	0.18489	B	0.019978	0.27141	N	0.352934	0.810278	0.34631	D	0.545	0.13751	N	2.36	0.16089	T	1.19	0.01092	N	0.3	0.34012	-0.9888	0.32903	T	0.007	0.02558	T	10	0.0107131	0.00237	T	0.00309	0.06696	T	0.046	0.12618	.	.	0.262662153117	0.25859	0.29245694616899875	0.29158	0.260043110434	0.28572	0.396821647882	0.24627	T	0.005933	0.05373	T	-0.579168	0.00195	T	-0.661059	0.08195	T	0.0235317813989514	0.01087	T	0.783622	0.42065	T	0.08251858	0.19014	0.20924945	0.45261	0.08251858	0.19014	0.20924945	0.45260	-3.506	0.16515	T	.	.	0.118	0.24226	B	.;.	.;.	1.463019	0.18861	13.96	0.79153747207880487	0.12614	0.35975	0.25426	N	AEFDBI	0.161136	0.28716	N	-0.516095621092209	0.21560	1.145066	-0.301310497929547	0.28056	1.561374	0.999356439385833	0.39259	0.525926	0.21836	0	0.615948	0.52940	0	0.527494	0.11647	0	0.542086	0.14980	0	.	.	5.71	3.71	0.41733	3.221000	0.50917	3.946000	0.40638	0.676000	0.76740	0.957000	0.33433	1.000000	0.68203	0.618000	0.31844	0.0:0.0:0.4142:0.5858	12.059	0.52850	663	0.61610	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1241.98	35	chr6	33725487	.	G	T	1241.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=782;ExcessHet=0.0000;FS=0.847;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.50;ReadPosRankSum=-2.070e-01;SOR=0.543	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1299	20	0	1	0
chr6	33728103	33728103	G	A	exonic	IP6K3	.	nonsynonymous SNV	IP6K3:NM_054111:exon3:c.C397T:p.R133C	.	.	429	1081	12	0	0	12	0.00551978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.001	B	0.001	B	0.300	N	1.000	N	1.67	L	-0.06	T	-1.010	T	0.098	T	0.049	0.278	5.502	3.64	0.625	0.133	4.846	0.071	0.0324913304677	0.0008	0.00119808	0.0014	0.0001	0.0011	0.0001	0	0.0020	0.0023	0.0015	0.0013066	202	154602	rs146845617	0.0010	0.0010	0.0010	0.0010	0.0050	0.0009	0.0009	0.0036	0.0031	0.0004	0.0015	0.0103	0.0001	4.443e-05	0.0050	0.0007	0.0019	0.0016	0.0011	0.0011	0.0012	0.0010	0.0027	0.0010	0.0009	0.0016	0.0013	0.0003	0	0.0020	0.0118	0.0004	9.407e-05	0.0170	0.0008	0.0028	0.0027	0.059	0.37536	T	0.087	0.40747	T	0.001	0.07471	B	0.001	0.04355	B	0.300177	0.03950	N	1.519180	0.999991	0.08975	N	0	0.06538	N	-0.06	0.63568	T	-2.66	0.56945	D	0.091	0.06990	-1.0099	0.26949	T	0.098	0.36600	T	10	0.0054971576	0.00121	T	0.032491	0.54300	D	0.071	0.20720	.	.	0.65945967189	0.65660	0.2296236268867109	0.22877	0.254136569004	0.27982	0.207165658474	0.00697	T	0.045381	0.27105	T	-0.607539	0.00131	T	-0.670091	0.07603	T	0.0164511061849929	0.00411	T	0.214779	0.02659	T	0.06299933	0.13218	0.08181975	0.18625	0.06299933	0.13218	0.08181975	0.18625	-3.366	0.14602	T	.	.	0.067	0.02518	B	.;.	.;.	0.973455	0.13505	10.03	0.91852241416486713	0.21165	0.12101	0.17060	N	AEFDBI	0.195046	0.32210	N	-0.877326820188601	0.11384	0.5490492	-0.878917670182381	0.12594	0.6487431	0.94100460363801	0.27457	0.516011	0.20929	0	0.563428	0.19063	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	5.51	3.64	0.40864	0.188000	0.16826	0.111000	0.14782	-2.821000	0.00180	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1849:0.0:0.6092:0.2059	4.846	0.12878	668	0.61153	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	895.98	36	chr6	33728103	.	G	A	895.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.78;DP=878;ExcessHet=0.0000;FS=0.780;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.78;ReadPosRankSum=-6.160e-01;SOR=0.599	GT:AD:DP:GQ:PL	0/0:59,0:59:99:0,120,1800	20	0	1	0
chr6	33784424	33784424	A	G	exonic	LEMD2	.	nonsynonymous SNV	LEMD2:NM_001348710:exon3:c.T382C:p.C128R	Cataract 46, juvenile-onset, Autosomal recessive	.	442	1078	2	0	0	2	0.000926784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	1.0	D	0.999	D	0.000	D	1.000	D	1.1	L	.	.	-0.789	T	0.204	T	0.962	2.749	15.15	5.61	2.130	6.079	14.368	0.349	0.00607541978312	0.0002	0.000199681	0.0002	0.0013	0.0002	0	0	7.585e-05	0.0011	0.0004	0.0001811	28	154602	rs140495067	7.392e-05	6.232e-05	6.759e-05	8.036e-05	0.0012	6.104e-05	5.672e-05	0.0007	0.0006	0.0010	8.036e-05	0	0	3.15e-05	0.0012	2.544e-05	0.0001	0.0003	0.0004	0.0004	0.0004	0.0003	0.0011	0.0003	0.0002	0.0008	0.0007	0.0011	0	0.0003	0	0	0	0	4.755e-05	0.0005	0	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000071	0.52346	D	0.083788	1	0.81001	D	1.175	0.29870	L	.	.	.	-2.88	0.60507	D	0.885	0.95374	-0.7895	0.55759	T	0.204	0.56169	T	9	0.38170177	0.54242	T	0.006075	0.15875	T	0.349	0.67049	.	.	0.605465558274	0.60230	0.9040387221658819	0.90376	1.2075056147	0.80735	0.829558253288	0.86495	D	0.389309	0.74977	T	0.126683	0.67037	D	0.373817	0.91210	D	0.0800875830094137	0.09999	T	0.639136	0.25234	T	0.8559381	0.87778	0.81140417	0.88989	0.8559381	0.87779	0.81140417	0.88990	-8.103	0.61771	D	.	.	0.995	0.95479	P	.;.	.;.	4.537159	0.71281	25.6	0.98896497253325144	0.48109	0.98606	0.84623	D	AEFBI	0.773709	0.70764	D	0.579203701809192	0.71876	5.718307	0.608232138822431	0.75537	6.32805	0.999999991473894	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.61	5.61	0.85347	5.690000	0.67904	11.103000	0.86162	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	14.368	0.66384	728	0.54609	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1092.98	47	chr6	33784424	.	A	G	1092.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.543e+00;DP=983;ExcessHet=0.0000;FS=1.830;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.39;ReadPosRankSum=-1.621e+00;SOR=0.505	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1575	20	0	1	0
chr6	33801090	33801090	G	C	exonic	MLN	.	nonsynonymous SNV	MLN:NM_001040109:exon2:c.C74G:p.A25G	.	.	414	1092	13	3	0	19	0.0086246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.023	B	0.016	B	0.026	N	0.948	N	1.145	L	0.81	T	-1.083	T	0.041	T	0.196	0.542	6.932	4.41	2.495	1.387	11.008	0.069	0.00705100641908	0.0032	0.00319489	0.0025	0.0032	0.0030	0	0.0006	0.0029	0.0044	0.0018	0.0023868	369	154602	rs146896135	0.0020	0.0020	0.0020	0.0020	0.0137	0.0019	0.0019	0.0113	0.0104	0.0040	0.0029	0.0148	7.557e-05	0.0005	0.0137	0.0016	0.0039	0.0011	0.0034	0.0034	0.0036	0.0033	0.0053	0.0032	0.0031	0.0047	0.0045	0.0053	0	0.0037	0.0173	0	0.0004	0.0102	0.0024	0.0052	0.0019	0.503	0.07670	T	0.641	0.07196	T	0.023	0.18885	B	0.016	0.17743	B	0.025968	0.25998	N	0.329157	0.947629	0.26594	N	1.465	0.36909	L	0.8	0.48769	T	0.43	0.04533	N	0.143	0.15469	-1.0825	0.06871	T	0.041	0.17657	T	10	0.007377565	0.00168	T	0.007051	0.18676	T	0.069	0.20116	.	.	0.344483371355	0.34058	0.38354543985551653	0.38269	0.241818290328	0.26701	0.373300492764	0.21304	T	0.009338	0.08507	T	-0.528635	0.00391	T	-0.53062	0.19226	T	0.00810768092511025	0.00096	T	0.690331	0.29972	T	0.07499108	0.16867	0.0959349	0.22775	0.07499108	0.16867	0.0959349	0.22774	-4.558	0.31640	T	.	.	0.086	0.10691	B	.;.;.	.;.;.	1.877647	0.23851	16.17	0.91325574505909923	0.20587	0.50755	0.28736	D	AEFBHI	0.176837	0.30406	N	-0.321907369721104	0.28317	1.560913	-0.173457167677052	0.32516	1.850731	0.46591951880652	0.20665	0.549168	0.22868	0	0.563428	0.19063	0	0.590023	0.30420	0	0.566403	0.31848	0	.	.	5.3	4.41	0.52588	1.124000	0.30934	4.355000	0.43100	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.740000	0.35438	0.0:0.3012:0.6988:0.0	11.008	0.46864	781	0.47532	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1554.98	34	chr6	33801090	.	G	C	1554.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.170e-01;DP=856;ExcessHet=0.0000;FS=2.510;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.40;ReadPosRankSum=0.852;SOR=0.910	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,120,1800	20	0	1	0
chr6	34058980	34058980	C	T	exonic	GRM4	.	nonsynonymous SNV	GRM4:NM_001256809:exon4:c.G814A:p.V272I	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	T	0.06	B	0.016	B	0.000	D	0.526	N	-0.595	N	-1.56	D	-1.034	T	0.091	T	0.05	-1.532	0.016	3.34	1.877	1.889	9.161	0.211	0.0145734144363	7.7e-05	0.000599042	0.0004	0	0.0003	0	0	0	0	0.0031	0.0003558	55	154602	rs149329300	0.0002	0.0002	0.0001	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	0	0.0001	0	2.519e-05	0	0	2.429e-05	0.0001	0.0028	6.567e-05	6.562e-05	2.57e-05	0.0001	0.0019	3.515e-05	2.615e-05	0.0010	0.0007	0	0	0	0	0	0	0	1.47e-05	0	0.0019	1.0	0.06648	T	1.0	0.02908	T	0.003	0.23119	B	0.006	0.17743	B	0.000109	0.50451	D	0.078785	0.664196	0.31527	N	-0.75	0.01730	N	-1.56	0.81815	D	0.22	0.06138	N	0.176	0.21449	-1.0344	0.19046	T	0.091	0.34955	T	10	0.006861329	0.00156	T	0.014573	0.34773	T	0.211	0.50185	.	.	0.429810549338	0.42601	0.2883077885693418	0.28743	0.480749730577	0.47089	0.542326569557	0.44774	T	0.182685	0.53478	T	-0.486976	0.00675	T	-0.474705	0.25010	T	0.0150961788211788	0.00327	T	0.916808	0.70203	D	0.030390501	0.02693	0.043930627	0.05578	0.030390501	0.02692	0.043930627	0.05578	-2.574	0.30428	T	.	.	0.097	0.15921	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.363921	0.30321	18.40	0.17173937689717428	0.00490	0.55815	0.29959	D	AEFBI	0.150233	0.27449	N	-0.762796762214023	0.14288	0.7105147	-0.588270108209312	0.19798	1.063863	0.993294466981469	0.33159	0.706298	0.61202	0	0.627178	0.54094	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	3.34	3.34	0.37357	2.062000	0.41039	3.321000	0.37545	0.519000	0.23678	0.967000	0.34061	0.998000	0.33993	0.690000	0.33838	0.0:0.8962:0.0:0.1038	9.161	0.36185	862	0.33134	.;Receptor, ligand binding region;Receptor, ligand binding region;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	614.98	35	chr6	34058980	.	C	T	614.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.640;DP=767;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.91;ReadPosRankSum=1.26;SOR=0.585	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1286	20	0	1	0
chr6	34392285	34392285	G	T	exonic	NUDT3	.	nonsynonymous SNV	NUDT3:NM_006703:exon1:c.C78A:p.F26L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.993	D	0.975	D	0.000	D	1.000	D	0.495	N	3.22	T	-0.933	T	0.014	T	0.639	3.716	18.87	1.75	0.213	3.645	6.816	0.216	.	0.0026	0.00279553	0.0011	0.0101	0.0011	0	0	0.0003	0.0016	0	0.0008344	129	154602	rs146760187	0.0004	0.0004	0.0004	0.0004	0.0069	0.0004	0.0004	0.0061	0.0058	0.0069	0.0008	0	0	2.017e-05	0.0010	0.0003	0.0006	3.504e-05	0.0018	0.0018	0.0019	0.0017	0.0055	0.0016	0.0016	0.0049	0.0047	0.0055	0	0.0011	0	0	0	0.0034	0.0004	0.0024	0	.	.	.	0.3	0.20357	T	0.993	0.65571	D	0.975	0.73362	D	0.000248	0.46924	D	0.142736	0.99992	0.51308	D	0.78	0.19475	N	.	.	.	.	.	.	0.308	0.34767	-0.9334	0.43636	T	0.014	0.05369	T	10	0.009668589	0.00218	T	.	.	.	.	.	0.601	0.73226	0.546106344192	0.54265	0.7586243788678189	0.75810	0.895058220819	0.70420	.	.	.	0.074462	0.34944	T	-0.238672	0.15518	T	-0.112026	0.62449	T	0.0959100561392512	0.11901	T	0.968303	0.88511	D	0.27774566	0.50831	0.2749793	0.53431	0.27774566	0.50831	0.2749793	0.53430	-5.411	0.41025	T	.	.	0.978	0.90719	P	.	.	3.186010	0.43269	21.7	0.994746841409341	0.66525	0.38968	0.26107	N	ALL	0.492609	0.52918	N	0.00584845184669325	0.42121	2.531951	-0.0281180030093833	0.38450	2.265504	0.999999999996794	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	3.55	1.75	0.23707	3.311000	0.51629	2.922000	0.35569	-0.194000	0.09177	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.3031:0.0:0.6969:0.0	6.816	0.23013	705	0.57330	NUDIX hydrolase domain|NUDIX hydrolase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1116.98	34	chr6	34392285	.	G	T	1116.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.509e+00;DP=774;ExcessHet=0.0000;FS=0.924;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.51;ReadPosRankSum=-5.000e-03;SOR=0.538	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1046	20	0	1	0
chr6	34528877	34528877	G	C	exonic	PACSIN1	.	nonsynonymous SNV	PACSIN1:NM_001199583:exon4:c.G456C:p.E152D	.	.	.	.	.	.	.	.	.	1.0000	0.978	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.553	P	0.083	B	0.000	D	1.000	D	1.95	M	2.41	T	-1.008	T	0.071	T	0.436	2.919	15.73	3.78	2.110	9.566	15.812	0.244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.28646	T	0.165	0.30926	T	0.553	0.38185	P	0.083	0.29179	B	0.000002	0.62929	D	0.057166	1	0.81001	D	2.38	0.68558	M	2.41	0.48142	T	-1.81	0.42575	N	0.616	0.64223	-1.0078	0.27603	T	0.071	0.28969	T	10	0.4428772	0.58213	T	0.024482	0.47468	T	0.244	0.55061	0.294	0.25720	0.603040811188	0.59987	0.16305492827728518	0.16225	0.503798904839	0.48685	0.678037703037	0.63986	T	0.217569	0.58004	T	-0.0396076	0.46008	T	-0.29467	0.45284	T	0.786065635174898	0.45434	D	0.929307	0.73951	D	0.41346648	0.61654	0.24255277	0.49678	0.41346648	0.61655	0.24255277	0.49677	-4.274	0.27811	T	.	.	0.186	0.41572	B	.;.;.;.	.;.;.;.	6.345052	0.95053	34	0.99146723813992677	0.53682	0.99349	0.94855	D	AEFBI	0.935786	0.93115	D	0.223423782744756	0.52335	3.408396	0.272362554212518	0.53931	3.559894	0.999999999990351	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	3.78	3.78	0.42629	9.911000	0.98680	11.737000	0.95113	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:1.0:0.0	15.812	0.78346	632	0.64850	F-BAR domain|PACSIN1, F-BAR;F-BAR domain;F-BAR domain|PACSIN1, F-BAR;F-BAR domain|PACSIN1, F-BAR	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1176	99.15	53	chr6	34528877	.	G	C	99.15	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-2.849e+00;DP=1213;ExcessHet=0.6776;FS=95.332;InbreedingCoeff=-0.1646;MLEAC=4;MLEAF=0.118;MQ=60.00;MQRankSum=0.00;QD=0.42;ReadPosRankSum=1.10;SOR=7.155	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:55,0:55:7:.:.:0,7,970	13	0	4	4
chr6	34528878	34528878	G	C	splicing	PACSIN1	NM_020804:exon4:c.456+1G>C;NM_001199583:exon4:c.456+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.206	16.74	3.65	2.045	3.808	15.531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.999e-06	0.0002	8.365e-06	5.622e-06	9.215e-06	3.54e-06	2.58e-06	4.66e-06	3.4e-06	0	0	0	0	0	0	9.215e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248786	0.78487	D	0.119587	0.78208	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.107861	0.96150	35	0.99376011016101284	0.61671	0.99663	0.98459	D	AEFBI	.	.	.	0.983139481429135	0.95203	13.40136	0.770643117215695	0.87689	9.309817	0.999999999960085	0.74766	0.078448	0.01964	0	0.097471	0.02872	0	0.083675	0.02720	0	0.058706	0.01089	0	0.938909	0.59992	3.65	3.65	0.40985	9.429000	0.96714	11.737000	0.95113	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	15.531	0.75701	632	0.64850	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	524.24	53	chr6	34528878	.	G	C	524.24	.	AC=9;AF=0.375;AN=24;BaseQRankSum=-7.030e-01;DP=1276;ExcessHet=4.7172;FS=105.745;InbreedingCoeff=-0.4484;MLEAC=11;MLEAF=0.458;MQ=60.00;MQRankSum=0.00;QD=1.00;ReadPosRankSum=0.745;SOR=9.923	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:42,0:42:0:.:.:0,0,345	3	0	9	9
chr6	34834333	34834333	G	T	exonic	UHRF1BP1	.	nonsynonymous SNV	UHRF1BP1:NM_017754:exon5:c.G455T:p.G152V,	.	.	426	1074	21	1	0	23	0.0105942	.	.	722007	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.95	T	0.999	D	0.959	D	0.000	D	1.000	D	-0.325	N	3.42	T	-0.921	T	0.008	T	0.565	0.275	5.489	4.71	2.450	7.603	12.895	0.302	.	0.0006	0.00119808	0.0034	0.0002	0.0008	0.0210	0.0002	0.0016	0.0022	0.0067	0.002956	457	154602	rs35356162	0.0014	0.0014	0.0012	0.0016	0.0125	0.0013	0.0013	0.0102	0.0093	0.0002	0.0009	0.0060	0.0074	0.0002	0.0125	0.0007	0.0022	0.0064	0.0015	0.0015	0.0014	0.0016	0.0135	0.0013	0.0013	0.0110	0.0100	0.0003	0	0.0016	0.0060	0.0135	0.0002	0.0068	0.0009	0.0043	0.0048	0.949	0.02151	T	0.949	0.02624	T	0.999	0.77913	D	0.959	0.70163	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.49	0.13296	N	3.42	0.05507	T	0.68	0.02598	N	0.588	0.66016	-0.9210	0.45417	T	0.008	0.02884	T	10	0.010248005	0.00229	T	.	.	.	0.302	0.62290	.	.	0.682557300345	0.67985	0.6734018225633608	0.67278	0.589812734145	0.54465	0.769845247269	0.77402	T	0.004419	0.03828	T	-0.447255	0.01172	T	-0.394277	0.34051	T	0.0559969584509058	0.06523	T	0.866213	0.57103	D	0.20586182	0.42741	0.20441778	0.44564	0.20586182	0.42741	0.20441778	0.44563	-7.799	0.59692	D	.	.	0.264	0.50889	B	.;.	.;.	4.678595	0.74854	26.2	0.39535943563514619	0.02734	0.96833	0.71185	D	AEFDBI	0.789438	0.71863	D	0.308914415602708	0.56604	3.825478	0.394598477304385	0.61231	4.320372	0.999971986636436	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.71	4.71	0.59010	6.609000	0.74047	9.835000	0.81886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:0.8375:0.1625	12.895	0.57483	296	0.88164	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	984.98	33	chr6	34834333	.	G	T	984.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=776;ExcessHet=0.0000;FS=2.799;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.45;ReadPosRankSum=0.182;SOR=0.922	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1146	20	0	1	0
chr6	34858730	34858730	G	A	exonic	UHRF1BP1	.	nonsynonymous SNV	UHRF1BP1:NM_017754:exon14:c.G2374A:p.E792K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.0	B	0.0	B	0.382	N	1.000	N	0	N	3.11	T	-0.938	T	0.004	T	0.122	-1.214	0.065	1.49	0.377	2.214	8.707	0.020	0.00465226814567	.	0.000199681	0.0001	0	0	0	0	0	0	0.0009	0.0001035	16	154602	rs558660349	4.378e-05	4.378e-05	1.906e-05	6.875e-05	0.0007	3.509e-05	3.193e-05	0.0006	0.0005	0	0	0	0	0	0	0	4.967e-05	0.0007	1.313e-05	1.312e-05	0	2.684e-05	0.0004	2.18e-06	8.2e-07	7.293e-05	3.03e-05	0	0	0	0	0	0	0	0	0	0.0004	0.812	0.03020	T	0.848	0.03538	T	0.0	0.02946	B	0.0	0.01387	B	0.382181	0.04427	N	1.390360	1	0.08975	N	0.635	0.15989	N	3.11	0.08194	T	-0.51	0.16393	N	0.034	0.03956	-0.9380	0.42932	T	0.004	0.01295	T	10	0.010146171	0.00227	T	0.004652	0.11534	T	0.020	0.03691	0.238	0.16912	0.208816687407	0.20498	0.3965501162509416	0.39570	0.145081945757	0.16401	0.33926653862	0.16329	T	0.007638	0.07033	T	-0.589359	0.00169	T	-0.684104	0.06736	T	0.00949281011794612	0.00122	T	0.720928	0.33404	T	0.022684107	0.00948	0.035703547	0.02872	0.022684107	0.00948	0.035703547	0.02872	-5.166	0.38594	T	.	.	0.088	0.12512	B	.;.	.;.	1.482696	0.19084	14.08	0.65550276171715993	0.07804	0.42685	0.26932	N	AEFDBHCI	0.094938	0.19189	N	-1.14014229745727	0.05943	0.2723341	-1.07095851536305	0.08275	0.4062079	0.892331930325326	0.25881	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.84	1.49	0.21966	2.285000	0.43149	4.283000	0.42887	-0.169000	0.11342	0.171000	0.23947	0.982000	0.30508	0.882000	0.42233	0.2096:0.1138:0.6766:0.0	8.707	0.33522	280	0.88949	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2484.98	35	chr6	34858730	.	G	A	2484.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=898;ExcessHet=0.0000;FS=2.082;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.46;ReadPosRankSum=0.802;SOR=0.598	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr6	35233280	35233280	A	G	exonic	SCUBE3	.	nonsynonymous SNV	SCUBE3:NM_001303136:exon6:c.A688G:p.T230A	.	.	431	1027	60	4	0	68	0.0320452	.	.	722010	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.68	T	0.135	B	0.107	B	0.000	D	0.911	N	-0.695	N	1.63	T	-0.679	T	0.307	T	0.087	1.377	10.54	4.58	1.704	1.686	8.145	0.166	.	0.0068	0.0091853	0.0090	0.0013	0.0065	0.0095	0.0033	0.0101	0.0113	0.0132	0.0085833	1327	154602	rs79753406	0.0092	0.0092	0.0090	0.0094	0.0347	0.0091	0.0090	0.0331	0.0325	0.0017	0.0074	0.0135	0.0347	0.0039	0.0294	0.0083	0.0094	0.0132	0.0072	0.0072	0.0069	0.0075	0.0143	0.0069	0.0067	0.0116	0.0107	0.0018	0.0011	0.0104	0.0104	0.0143	0.0034	0.0240	0.0092	0.0143	0.0105	0.373	0.11442	T	0.43	0.13713	T	0.083	0.24734	B	0.05	0.25278	B	0.000103	0.50451	D	0.133022	0.911284	0.27501	N	0.21	0.09513	N	-3.67	0.95247	D	-0.97	0.25770	N	0.23	0.25867	-0.6791	0.61414	T	0.307	0.67768	T	10	0.010085374	0.00226	T	.	.	.	0.166	0.42578	.	.	0.805243615292	0.80342	0.4329722714988088	0.43214	0.771633514388	0.64795	0.544402062893	0.45068	T	0.063282	0.32135	T	-0.369348	0.03627	T	-0.292288	0.45535	T	0.0198556633531013	0.00687	T	0.50295	0.15803	T	0.09223358	0.21633	0.088297546	0.20580	0.09223358	0.21633	0.088297546	0.20580	-3.328	0.14100	T	.	.	0.055	0.00412	B	.	.	2.792315	0.36707	20.3	0.94186847558303533	0.24411	0.84137	0.43221	D	AEFBI	0.410819	0.48154	N	-0.500490880925575	0.22065	1.175561	-0.282590628222039	0.28670	1.600411	0.983709014879107	0.30601	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.58	4.58	0.56077	1.627000	0.36661	4.166000	0.42242	0.754000	0.88378	0.963000	0.33788	0.997000	0.33255	0.981000	0.58702	0.6772:0.0:0.0:0.3228	8.145	0.30267	248	0.90287	EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2303.98	37	chr6	35233280	.	A	G	2303.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=893;ExcessHet=0.0000;FS=5.421;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=0.524;SOR=0.537	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1207	20	0	1	0
chr6	35295232	35295232	C	T	exonic	ZNF76	.	nonsynonymous SNV	ZNF76:NM_001292032:exon13:c.C1532T:p.S511L	.	.	408	1108	6	0	0	6	0.00270027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.091	B	0.008	B	0.150	N	1.000	N	0.69	N	2.95	T	-1.017	T	0.011	T	0.344	3.202	16.72	5.91	2.793	2.471	17.018	0.079	.	0.0058	0.00539137	0.0027	0.0216	0.0027	0	0	0.0008	0.0036	0.0004	0.0017205	266	154602	rs73745177	0.0008	0.0008	0.0009	0.0008	0.0167	0.0008	0.0008	0.0156	0.0151	0.0167	0.0024	3.849e-05	0	9.543e-05	0.0063	0.0003	0.0019	0.0004	0.0057	0.0057	0.0057	0.0057	0.0166	0.0054	0.0053	0.0155	0.0151	0.0166	0	0.0084	0	0	0	0	0.0005	0.0062	0.0008	0.004	0.65419	D	0.017	0.60337	D	0.091	0.25247	B	0.007	0.13708	B	0.150126	0.17996	N	0.306088	1	0.08975	N	0	0.06538	N	2.95	0.09915	T	-0.63	0.18459	N	0.137	0.13484	-1.0166	0.24819	T	0.011	0.04369	T	10	0.0038496554	0.00073	T	.	.	.	0.079	0.23065	.	.	0.17258766438	0.16869	0.30530459145843875	0.30443	0.172913728533	0.19474	0.399952322245	0.25062	T	0.005947	0.05392	T	-0.516828	0.00459	T	-0.50219	0.22121	T	0.0184593729541872	0.00563	T	0.871513	0.59164	D	0.10586575	0.25032	0.09029157	0.21163	0.10586575	0.25032	0.09029157	0.21163	-4.624	0.32472	T	.	.	0.125	0.34775	B	.;.	.;.	2.762305	0.36239	20.2	0.99749356488826091	0.84152	0.62745	0.31875	D	AEFBI	0.193828	0.32094	N	-0.26085894748298	0.30672	1.712446	-0.129455396748558	0.34208	1.965192	0.999999999003916	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.91	5.91	0.95240	2.530000	0.45301	3.071000	0.36200	0.599000	0.40250	0.124000	0.23245	0.066000	0.22130	0.999000	0.91618	0.0:1.0:0.0:0.0	17.018	0.86298	319	0.87030	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1139.98	36	chr6	35295232	.	C	T	1139.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.940e-01;DP=854;ExcessHet=0.0000;FS=0.739;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.65;ReadPosRankSum=-2.780e-01;SOR=0.565	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1146	20	0	1	0
chr6	35456231	35456233	GGA	-	exonic	FANCE	.	nonframeshift deletion	FANCE:NM_021922:exon2:c.733_735del:p.G246del,	Fanconi anemia, complementation group E, Autosomal recessive	.	0	1516	6	0	0	6	0.00197498	.	.	207415	not_specified|FANCE-related_disorder|not_provided|Fanconi_anemia|Fanconi_anemia_complementation_group_E	MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901,Orphanet:84	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0060	0.00339457	0.0017	0.0142	0.0011	0	0	0.0006	0.0011	0.0003	0.0002689	7	26028	rs45451605	0.0008	0.0008	0.0008	0.0007	0.0163	0.0007	0.0007	0.0151	0.0147	0.0163	0.0015	3.826e-05	0	9.36e-05	0.0069	0.0003	0.0015	0.0004	0.0049	0.0049	0.0049	0.0049	0.0159	0.0046	0.0045	0.0149	0.0145	0.0159	0	0.0031	0	0	0	0	0.0005	0.0024	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3514.94	67	chr6	35456230	.	TGGA	T	3514.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=1373;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.70;ReadPosRankSum=1.13;SOR=0.657	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr6	35499990	35499990	C	T	exonic	TULP1	.	nonsynonymous SNV	TULP1:NM_001289395:exon13:c.G1327A:p.A443T	Leber congenital amaurosis 15, Autosomal recessive;Retinitis pigmentosa 14, Autosomal recessive	.	0	1518	4	0	0	4	0.00131579	.	.	105553	not_provided|Retinitis_pigmentosa|not_specified|Leber_congenital_amaurosis_15	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN169374|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843,Orphanet:65	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.55	T	0.734	P	0.142	B	0.288	N	1.000	N	1.37	L	-1.93	D	-0.930	T	0.197	T	0.215	1.188	9.829	2.36	0.667	0.379	8.313	0.162	0.0567281754992	0.0006	0.00139776	0.0008	0.0009	0.0026	0.0002	0	0.0006	0.0044	0.0002	0.000815	126	154602	rs141980901	0.0007	0.0007	0.0007	0.0006	0.0059	0.0006	0.0006	0.0043	0.0038	0.0018	0.0031	0	2.519e-05	1.876e-05	0.0059	0.0006	0.0018	0.0003	0.0011	0.0011	0.0010	0.0012	0.0041	0.0009	0.0009	0.0032	0.0030	0.0011	0	0.0041	0	0	0	0.0102	0.0006	0.0043	0.0004	0.37	0.28026	T	0.534	0.09965	T	0.734	0.42776	P	0.142	0.33681	B	0.288193	0.14818	N	0.693516	1	0.08975	N	1.335	0.33326	L	-1.93	0.84842	D	-0.83	0.22944	N	0.365	0.40665	-0.9297	0.44183	T	0.197	0.55244	T	10	0.00881651	0.00200	T	0.056728	0.66708	D	0.162	0.41843	.	.	0.489701598095	0.48602	0.18404921459246015	0.18323	0.569561216324	0.53133	0.38576617837	0.23071	T	0.482576	0.81066	T	-0.385306	0.02883	T	-0.33148	0.41304	T	0.0134067593708728	0.00243	T	0.685131	0.29365	T	0.17921785	0.38981	0.13358398	0.32030	0.23207025	0.45989	0.104276896	0.25040	-6.983	0.54868	T	.	.	0.087	0.15877	B	.;.;.	.;.;.	2.482076	0.32012	18.91	0.96981126134113749	0.31859	0.08946	0.14797	N	AEFBCI	0.098670	0.19877	N	-0.494951574162214	0.22246	1.186466	-0.480431832527787	0.22693	1.233857	0.999995274762245	0.74766	0.660377	0.49826	0	0.563428	0.19063	0	0.696353	0.63694	0	0.63947	0.58350	0	.	.	5.48	2.36	0.28258	-0.083000	0.11250	1.105000	0.24105	0.549000	0.26987	0.000000	0.06391	0.329000	0.24363	0.969000	0.54022	0.2937:0.5688:0.0:0.1375	8.313	0.31247	607	0.67291	.;Tubby, C-terminal;Tubby, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1109.98	36	chr6	35499990	.	C	T	1109.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.400e-02;DP=832;ExcessHet=0.0000;FS=2.488;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.00;ReadPosRankSum=-1.003e+00;SOR=0.974	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1265	20	0	1	0
chr6	35506127	35506127	C	T	exonic	TULP1	.	nonsynonymous SNV	TULP1:NM_001289395:exon9:c.G716A:p.R239Q	Leber congenital amaurosis 15, Autosomal recessive;Retinitis pigmentosa 14, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	302609	not_provided|Leber_congenital_amaurosis_15|Retinitis_pigmentosa	MedGen:C3661900|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843,Orphanet:65|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.013	B	0.001	B	0.416	N	0.971	N	-0.11	N	-1.96	D	-0.969	T	0.157	T	0.129	2.477	14.24	-3.43	-0.617	0.457	13.536	0.254	0.0229268688133	0.0002	0.000199681	8.456e-05	0	0	0	0	0.0001	0.0011	0.0001	8.41e-05	13	154602	rs140460892	0.0001	0.0001	9.941e-05	0.0001	0.0003	8.918e-05	8.402e-05	0.0002	0.0002	0	4.473e-05	0	0	0	0	0.0001	3.312e-05	0.0003	5.252e-05	5.249e-05	3.855e-05	6.712e-05	0.0002	2.555e-05	1.829e-05	2.847e-05	1.858e-05	4.812e-05	0	0	0	0	0	0	7.351e-05	0	0.0002	0.302	0.14400	T	0.12	0.35970	T	0.013	0.16609	B	0.001	0.04355	B	0.415706	0.12936	N	0.744958	0.970795	0.25686	N	-0.37	0.03087	N	-1.96	0.85091	D	1.03	0.01350	N	0.219	0.25253	-0.9690	0.37407	T	0.157	0.48942	T	10	0.05836591	0.06850	T	0.022927	0.45860	T	0.254	0.56428	.	.	0.475805701494	0.47208	0.1266602462431723	0.12592	0.300119755026	0.32375	0.203590452671	0.00568	T	0.085239	0.37458	T	-0.248657	0.14262	T	-0.302806	0.44429	T	0.0927499267817379	0.11540	T	0.827517	0.49142	T	0.040534906	0.05804	0.062095013	0.12093	0.040534906	0.05803	0.062095013	0.12093	-1.423	0.01614	T	.	.	0.066	0.03515	B	.;.;.	.;.;.	0.692450	0.10613	7.314	0.97654024198744327	0.35155	0.14481	0.18426	N	AEFDBI	0.102521	0.20563	N	-0.983170629361845	0.08962	0.4222923	-0.872659361239151	0.12743	0.6573106	0.999998187848487	0.74766	0.205752	0.04085	2	0.59043	0.45803	0	0.459711	0.06710	0	0.530356	0.10902	0	.	.	4.58	-3.43	0.04507	0.345000	0.19720	-3.732000	0.02574	-0.982000	0.01892	0.989000	0.36753	0.000000	0.08366	0.899000	0.43558	0.0:0.1921:0.0:0.8079	13.536	0.61105	603	0.67726	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1845.98	39	chr6	35506127	.	C	T	1845.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=852;ExcessHet=0.0000;FS=1.314;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=2.06;SOR=0.783	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1235	20	0	1	0
chr6	35748542	35748542	A	C	exonic	ARMC12	.	nonsynonymous SNV	ARMC12:NM_001286574:exon6:c.A695C:p.H232P	.	.	433	1067	21	1	0	23	0.010663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.0	B	0.003	B	0.048	N	0.997	N	0.345	N	0.02	T	-1.034	T	0.041	T	0.336	1.570	11.20	1.16	0.228	1.157	3.825	0.059	0.00634508766509	0.0031	0.00219649	0.0021	0.0064	0.0018	0.0001	0.0002	0.0020	0	0.0021	0.0019146	296	154602	rs112217683	0.0014	0.0014	0.0013	0.0015	0.0107	0.0013	0.0013	0.0085	0.0077	0.0059	0.0022	0.0080	2.738e-05	0.0003	0.0107	0.0011	0.0022	0.0019	0.0028	0.0028	0.0029	0.0027	0.0051	0.0026	0.0025	0.0045	0.0043	0.0051	0.0296	0.0018	0.0081	0	0.0002	0.0068	0.0016	0.0047	0.0021	0.237	0.17881	T	0.243	0.24193	T	0.0	0.02946	B	0.003	0.08700	B	0.048323	0.23261	N	0.366698	1	0.22879	N	1.52	0.38360	L	0.02	0.62318	T	3.45	0.00121	N	0.518	0.54845	-1.0344	0.19046	T	0.041	0.17657	T	10	0.0049612224	0.00106	T	0.006345	0.16668	T	0.059	0.16972	.	.	0.397691132334	0.39381	0.5949043647100937	0.59420	0.175494679042	0.19754	0.482856690884	0.36450	T	0.009311	0.08481	T	-0.428359	0.01516	T	-0.385889	0.35032	T	0.00151927204601168	0.00015	T	0.530647	0.17608	T	0.06890074	0.15049	0.06611069	0.13496	0.06890074	0.15049	0.06611069	0.13496	-3.491	0.16306	T	.	.	0.122	0.25560	B	.;.	.;.	1.792031	0.22780	15.76	0.83981245221982426	0.15029	0.15495	0.18940	N	AEFBI	0.160584	0.28653	N	-0.787983469773123	0.13622	0.6724289	-0.731953790953558	0.16168	0.853948	3.23453867622665E-4	0.06540	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	4.76	1.16	0.19936	1.160000	0.31372	2.964000	0.35768	0.756000	0.94297	0.363000	0.25867	0.949000	0.28973	0.962000	0.52141	0.4847:0.1954:0.3198:0.0	3.825	0.08363	675	0.60470	.;Armadillo repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1434.98	34	chr6	35748542	.	A	C	1434.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.582;DP=804;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=0.932;SOR=0.725	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1349	20	0	1	0
chr6	35943976	35943976	C	T	exonic	SLC26A8	.	nonsynonymous SNV	SLC26A8:NM_138718:exon18:c.G2522A:p.R841Q	Spermatogenic failure 3, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.003	B	0.001	B	0.158	N	1.000	N	-0.145	N	-3.11	D	-0.486	T	0.334	T	0.117	0.930	8.787	-8.64	-1.885	-1.412	11.496	0.214	0.111018889325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	4.104e-06	2.722e-06	4.125e-06	2.987e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.987e-05	0	0	0	0	0	2.698e-06	0	1.159e-05	1.314e-05	1.312e-05	0	2.686e-05	0.0002	2.18e-06	8.2e-07	.	.	2.406e-05	0	0	0	0	0	0	0	0	0.0002	0.323	0.15665	T	0.328	0.18846	T	0.002	0.11197	B	0.0	0.04355	B	0.158182	0.03017	N	1.748100	1	0.08975	N	0.09	0.08384	N	-3.11	0.94388	D	-0.62	0.18248	N	0.099	0.08786	-0.4860	0.69151	T	0.334	0.70134	T	10	0.07530531	0.11623	T	0.111019	0.78863	D	0.214	0.50650	0.209	0.12639	0.332646915603	0.32870	0.0856976983065456	0.08503	0.243319615468	0.26841	0.178246945143	0.00079	T	0.040327	0.25489	T	-0.12064	0.33019	T	-0.411067	0.32103	T	0.0858097113000814	0.10713	T	0.426357	0.11459	T	0.020523733	0.00614	0.027566524	0.00918	0.020523733	0.00614	0.027566524	0.00918	-2.517	0.05898	T	.	.	0.073	0.11606	B	.;.;.	.;.;.	-0.438324	0.02073	0.191	0.79455541403980023	0.12750	0.00211	0.01201	N	AEFDI	0.032088	0.03557	N	-2.03018149229186	0.00182	0.007798888	-2.09114761793144	0.00195	0.008574081	0.98532660489961	0.30868	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.77	-8.64	0.00758	-1.347000	0.02739	-2.605000	0.03557	-3.621000	0.00071	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1052:0.1469:0.0:0.7478	11.496	0.49659	513	0.74941	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	922.98	33	chr6	35943976	.	C	T	922.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=780;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.61;ReadPosRankSum=0.267;SOR=0.703	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1296	20	0	1	0
chr6	35955364	35955364	C	T	exonic	SLC26A8	.	nonsynonymous SNV	SLC26A8:NM_138718:exon15:c.G1705A:p.G569R	Spermatogenic failure 3, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.996	D	0.906	P	0.624	N	1.000	N	1.32	L	-3.54	D	0.011	D	0.742	D	0.397	2.751	15.16	-0.385	0.075	0.028	2.820	0.284	0.202541720929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.36113	T	0.075	0.43913	T	0.976	0.65571	D	0.9	0.63913	P	0.624424	0.05775	N	1.207050	1	0.08975	N	1.75	0.45442	L	-3.54	0.96047	D	-3.43	0.67359	D	0.227	0.25745	0.011	0.82483	D	0.742	0.91173	D	10	0.2364229	0.40724	T	0.202542	0.86826	D	0.284	0.60219	0.299	0.26522	0.631704462594	0.62868	0.4425650226245702	0.44173	0.347595861932	0.36646	0.315870344639	0.12795	T	0.307994	0.68011	T	0.126074	0.66976	D	-0.0566801	0.66562	D	0.865066587924957	0.51520	D	0.611839	0.23263	T	0.15164201	0.34462	0.22416304	0.47319	0.15164201	0.34462	0.22416304	0.47318	-3.803	0.20849	T	.	.	0.128	0.28521	B	.;.;.	.;.;.	2.144065	0.27302	17.42	0.984715923625473	0.41861	0.01390	0.04723	N	AEFDGBI	0.066455	0.13014	N	-0.530873785761624	0.21088	1.116537	-0.741101899223181	0.15940	0.84091	0.807334950032425	0.24293	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.525792	0.08840	0	.	.	5.01	-0.385	0.11849	0.370000	0.20166	0.144000	0.15210	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.3366:0.3644:0.0:0.2989	2.820	0.05131	552	0.72024	STAS domain|STAS domain;.;STAS domain|STAS domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1598.98	36	chr6	35955364	.	C	T	1598.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.850;DP=824;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.90;ReadPosRankSum=0.974;SOR=0.631	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1403	20	0	1	0
chr6	36217982	36217982	A	G	exonic	BRPF3	.	nonsynonymous SNV	BRPF3:NM_015695:exon9:c.A3055G:p.S1019G,	.	.	424	1077	20	1	0	22	0.0101103	.	.	2840577	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.34	T	0.022	B	0.021	B	0.123	N	1.000	D	0.695	N	2.28	T	-1.037	T	0.014	T	0.136	2.485	14.27	3.37	1.116	1.870	8.223	0.050	0.00400209447878	0.0023	0.000798722	0.0023	0.0007	0.0046	0.0001	0.0003	0.0030	0.0022	0.0007	0.0022121	342	154602	rs145016452	0.0025	0.0025	0.0024	0.0025	0.0158	0.0024	0.0024	0.0132	0.0122	0.0010	0.0050	0.0144	5.046e-05	0.0002	0.0158	0.0023	0.0043	0.0009	0.0024	0.0024	0.0026	0.0021	0.0048	0.0022	0.0021	0.0040	0.0036	0.0009	0	0.0048	0.0164	0.0002	0	0.0238	0.0024	0.0104	0.0008	0.182	0.21801	T	0.198	0.28210	T	0.0	0.02946	B	0.0	0.01387	B	0.123094	0.18931	N	0.607803	0.973583	0.81001	D	-0.145	0.04423	N	2.27	0.19311	T	-1.17	0.29933	N	0.131	0.12627	-1.0367	0.18326	T	0.014	0.05417	T	10	0.0041178465	0.00081	T	0.004002	0.09493	T	0.050	0.13987	.	.	0.369144000639	0.36531	0.28869160107086866	0.28782	0.0974772619192	0.11007	0.420283079147	0.27874	T	0.019289	0.15396	T	-0.569351	0.00223	T	-0.590617	0.13612	T	0.0142303462087172	0.00281	T	0.770523	0.41514	T	0.06607664	0.14183	0.06466272	0.12992	0.06607664	0.14182	0.06466272	0.12991	-2.782	0.08994	T	.	.	0.051	0.01197	B	.;.;.	.;.;.	1.496978	0.19252	14.17	0.99343613661217889	0.60291	0.75300	0.36862	D	AEFBI	0.134572	0.25463	N	-0.296461402951068	0.29285	1.622639	-0.102183830566303	0.35303	2.040773	0.999997187942248	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.05	3.37	0.37692	1.894000	0.39401	2.677000	0.33989	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.7652:0.0:0.2348:0.0	8.223	0.30714	540	0.73006	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1100.98	33	chr6	36217982	.	A	G	1100.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.179e+00;DP=865;ExcessHet=0.0000;FS=2.188;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.81;ReadPosRankSum=-2.280e-01;SOR=0.733	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr6	36225297	36225297	G	A	exonic	BRPF3	.	nonsynonymous SNV	BRPF3:NM_015695:exon11:c.G3212A:p.R1071H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.039	B	0.012	B	0.020	N	1.000	D	0	N	1.56	T	-1.074	T	0.015	T	0.177	3.276	17.00	2.91	1.537	1.191	4.736	0.032	0.00614308274187	7.7e-05	.	1.663e-05	0	0	0	0	3.022e-05	0	0	1.29e-05	2	154602	rs370467092	1.304e-05	1.573e-05	1.093e-05	1.516e-05	2.987e-05	8.34e-06	6.72e-06	1.012e-05	8.35e-06	2.987e-05	0	0	0	0	0	1.619e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.45393	T	0.169	0.38742	T	0.0	0.02946	B	0.0	0.01387	B	0.019720	0.27197	N	0.388138	0.986467	0.81001	D	-0.69	0.01958	N	1.56	0.29602	T	0.23	0.14588	N	0.179	0.19325	-1.0738	0.08598	T	0.015	0.06090	T	10	0.07598725	0.11813	T	0.006143	0.16082	T	0.032	0.07718	.	.	0.316310170894	0.31242	0.2894463226146303	0.28857	0.134033539515	0.15102	0.386724978685	0.23207	T	0.016692	0.13750	T	-0.290505	0.09585	T	-0.54741	0.17574	T	0.160428799125403	0.17904	T	0.807619	0.45757	T	0.1178536	0.27777	0.062945746	0.12396	0.1178536	0.27777	0.062945746	0.12395	-3.461	0.15890	T	.	.	0.065	0.10594	B	.;.;.	.;.;.	3.528211	0.49492	22.8	0.99664122327848381	0.78138	0.38035	0.25897	N	ALL	0.082825	0.16775	N	-0.344076318804394	0.27489	1.508675	-0.145191687823133	0.33593	1.923265	0.999999999999997	0.74766	0.722319	0.85440	0	0.653731	0.59785	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	6.04	2.91	0.32903	1.533000	0.35645	5.818000	0.50061	0.676000	0.76740	0.786000	0.29545	1.000000	0.68203	0.998000	0.85391	0.2317:0.0:0.5931:0.1753	4.736	0.12364	567	0.70732	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1447.98	34	chr6	36225297	.	G	A	1447.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.270e-01;DP=808;ExcessHet=0.0000;FS=1.661;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.34;ReadPosRankSum=0.062;SOR=0.538	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1342	20	0	1	0
chr6	36225308	36225308	G	A	exonic	BRPF3	.	nonsynonymous SNV	BRPF3:NM_015695:exon11:c.G3223A:p.E1075K,	.	.	420	1075	26	1	0	28	0.0128558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.998	D	0.953	D	0.000	D	1.000	N	2.17	M	-0.52	T	-0.445	T	0.413	T	0.81	7.645	39	6.04	2.873	6.608	15.993	0.442	.	0.0083	0.00559105	0.0083	0.0012	0.0049	0	0.0091	0.0105	0.0112	0.0103	0.0082987	1283	154602	rs142171063	0.0094	0.0094	0.0091	0.0097	0.0135	0.0092	0.0092	0.0111	0.0102	0.0020	0.0055	0.0052	0.0002	0.0081	0.0135	0.0102	0.0091	0.0093	0.0075	0.0075	0.0074	0.0076	0.0120	0.0071	0.0070	0.0113	0.0110	0.0014	0.0022	0.0078	0.0052	0.0002	0.0064	0.0170	0.0120	0.0081	0.0074	0.005	0.63226	D	0.086	0.43721	T	0.912	0.50421	P	0.498	0.47596	P	0.000089	0.51296	D	0.129355	0.99986	0.81001	D	1.765	0.45800	L	-0.52	0.70717	T	-2.66	0.58248	D	0.903	0.90363	-0.4452	0.70559	T	0.413	0.76048	T	10	0.013104111	0.00279	T	.	.	.	0.442	0.74518	.	.	0.774720261517	0.77264	0.8641290524401819	0.86376	0.567022438611	0.52971	0.75238609314	0.74798	T	0.162972	0.50785	T	-0.129283	0.31612	T	0.0519048	0.73710	D	0.0249159672370973	0.01261	T	0.935306	0.81731	D	0.64164495	0.74919	0.53257245	0.72991	0.64164495	0.74920	0.53257245	0.72991	-8.051	0.61417	D	.	.	0.266	0.50054	B	.;.;.	.;.;.	5.149429	0.86240	28.8	0.99543335025107649	0.70648	0.86249	0.45493	D	AEFDGBHCI	0.883812	0.81302	D	0.734200740686734	0.81876	7.625519	0.765997048586827	0.87348	9.190829	1.0	0.98316	0.722319	0.85440	0	0.653731	0.59785	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	6.04	6.04	0.98025	5.697000	0.67954	11.918000	0.99752	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1337:0.8663:0.0	15.993	0.80014	567	0.70732	PWWP domain|PWWP domain|BR140-related, PWWD domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	3147.68	34	chr6	36225308	.	G	A	3147.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.718;DP=967;ExcessHet=0.3300;FS=6.133;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=-3.360e-01;SOR=1.018	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1342	18	0	3	0
chr6	36291365	36291365	A	G	exonic	PNPLA1	.	nonsynonymous SNV	PNPLA1:NM_001145717:exon2:c.A251G:p.K84R	Ichthyosis, congenital, autosomal recessive 10, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.23	B	0.175	B	0.084	U	1.000	N	0.69	N	-1.03	T	-0.990	T	0.142	T	0.147	3.036	16.13	4.1	0.844	5.048	9.160	0.172	0.0249937709916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.18889	T	0.115	0.36630	T	0.23	0.30574	B	0.175	0.35598	B	0.084103	0.20715	U	0.331596	1	0.81001	D	1.53	0.38800	L	-1.03	0.76430	T	-1.81	0.42575	N	0.223	0.25006	-0.9904	0.32500	T	0.142	0.46275	T	10	0.18578598	0.34015	T	0.024994	0.47983	T	0.172	0.43662	0.345	0.33950	0.768449596528	0.76632	.	.	0.213063653711	0.23811	0.510883152485	0.40347	T	0.005896	0.05345	T	-0.0814537	0.39477	T	-0.354779	0.38655	T	0.691809058189392	0.40331	D	0.642236	0.25428	T	0.08893341	0.20763	0.1472266	0.34849	0.08893341	0.20763	0.1472266	0.34848	-5.181	0.38748	T	.	.	0.096	0.17146	B	.;.	.;.	2.766790	0.36307	20.2	0.99632889771362543	0.76142	0.95053	0.63266	D	ALL	0.609417	0.59862	D	-0.14403188675947	0.35489	2.039126	0.00882416738919273	0.40123	2.390	0.999999999999999	0.74766	0.525926	0.21836	0	0.59043	0.45803	0	0.615948	0.41167	0	0.631631	0.49550	0	.	.	5.26	4.1	0.47196	4.497000	0.60088	6.716000	0.56415	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.9126:0.0:0.0874:0.0	9.160	0.36180	789	0.46346	Patatin-like phospholipase domain;Patatin-like phospholipase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	865.03	33	chr6	36291365	.	A	G	865.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-9.970e-01;DP=1831;ExcessHet=1.7912;FS=51.070;InbreedingCoeff=-0.1666;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=1.05;ReadPosRankSum=0.872;SOR=9.442	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,17:148:99:0|1:36291365_A_G:244,0,5253:36291365	15	0	6	0
chr6	36294172	36294172	C	A	exonic	PNPLA1	.	nonsynonymous SNV	PNPLA1:NM_001145716:exon4:c.C229A:p.L77I,	Ichthyosis, congenital, autosomal recessive 10, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.004	B	0.008	B	.	.	1.000	N	.	.	-0.21	T	-1.008	T	0.070	T	0.09	0.421	6.289	0.301	0.035	0.083	1.739	0.042	0.00977610383771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.37966	T	0.0	0.92824	D	0.004	0.12183	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	.	.	.	-0.21	0.66294	T	-0.06	0.07882	N	0.237	0.26717	-1.0079	0.27572	T	0.070	0.28511	T	8	0.08185342	0.13445	T	0.009776	0.25518	T	0.042	0.11227	0.447	0.50629	0.601252736945	0.59807	.	.	.	.	.	.	.	.	.	.	-0.254628	0.13537	T	-0.603532	0.12516	T	0.0648468873096976	0.07908	T	0.19948	0.02241	T	.	.	.	.	.	.	.	.	-3.472	0.16042	T	.	.	0.139	0.30291	B	.	.	0.967461	0.13443	9.952	0.91898628833301199	0.21218	0.09038	0.14872	N	AEFDBI	0.075254	0.15106	N	-1.07322701849616	0.07140	0.3307882	-1.16407872686005	0.06519	0.3140291	0.0914554556735175	0.16135	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.23	0.301	0.15029	-0.637000	0.05556	0.216000	0.16018	-0.934000	0.02129	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2279:0.4551:0.1945:0.1224	1.739	0.02770	793	0.45818	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	313.98	38	chr6	36294172	.	C	A	313.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.729e+00;DP=979;ExcessHet=0.0000;FS=71.538;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.07;ReadPosRankSum=1.55;SOR=6.661	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr6	36319517	36319517	G	A	exonic	BNIP5	.	nonsynonymous SNV	BNIP5:NM_001010903:exon11:c.C1762T:p.H588Y,	.	.	425	1055	40	2	0	44	0.0204271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.989	D	0.689	P	0.122	N	1.000	N	1.955	M	0.92	T	-1.083	T	0.084	T	0.095	1.449	10.79	1.02	0.363	0.133	6.729	0.053	.	0.0004	0.00499201	0.0048	0.0002	0.0014	0.0001	0	0.0008	0.0033	0.0311	0.0042108	651	154602	rs141156956	0.0024	0.0024	0.0014	0.0034	0.0310	0.0023	0.0023	0.0300	0.0296	8.961e-05	0.0009	0.0017	2.519e-05	3.744e-05	0.0087	0.0005	0.0030	0.0310	0.0017	0.0017	0.0012	0.0022	0.0328	0.0015	0.0014	0.0286	0.0270	0.0001	0	0.0010	0.0020	0.0004	9.414e-05	0.0204	0.0008	0.0009	0.0328	1.0	0.00964	T	1.0	0.01155	T	0.989	0.62824	D	0.689	0.53736	P	0.121568	0.02730	N	1.775450	1	0.08975	N	1.59	0.40313	L	0.92	0.44461	T	-3.18	0.64478	D	0.24	0.27077	-1.0831	0.06758	T	0.084	0.32900	T	10	0.004032612	0.00078	T	.	.	.	0.053	0.14996	.	.	0.0762999501168	0.06990	0.07542998746863407	0.07478	0.0447508738287	0.04840	.	.	.	0.11461	0.43256	T	-0.657847	0.00065	T	-0.693353	0.06197	T	0.0419195599550089	0.04041	T	0.349965	0.07784	T	0.06261554	0.13096	0.056656428	0.10162	0.06261554	0.13096	0.056656428	0.10161	-3.888	0.22122	T	.	.	0.094	0.14568	B	.	.	1.114042	0.14994	11.50	0.95584321604298716	0.27297	0.03715	0.09002	N	AEFDGBHCI	0.076169	0.15316	N	-0.188137897838867	0.33628	1.909955	-0.349527260884552	0.26523	1.465581	0.999999975344712	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	5.55	1.02	0.19102	0.141000	0.15897	-1.329000	0.05702	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.440000	0.27671	0.086:0.0:0.387:0.527	6.729	0.22564	840	0.37365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1396.98	40	chr6	36319517	.	G	A	1396.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.621e+00;DP=912;ExcessHet=0.0000;FS=0.670;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=0.209;SOR=0.767	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1329	20	0	1	0
chr6	36330545	36330545	T	G	exonic	BNIP5	.	nonsynonymous SNV	BNIP5:NM_001010903:exon2:c.A146C:p.H49P,	.	.	430	1052	38	2	0	42	0.0195713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.001	B	0.001	B	0.778	N	1.000	N	0.695	N	0.94	T	-0.989	T	0.026	T	0.189	2.009	12.68	1.31	0.001	-0.143	4.129	0.013	0.0031181435307	0.0018	0.00139776	0.0023	0.0002	0.0008	0.0002	0	0.0025	0.0034	0.0055	0.0020828	322	154602	rs150068380	0.0016	0.0016	0.0014	0.0018	0.0107	0.0016	0.0015	0.0086	0.0078	0.0006	0.0017	0.0078	7.557e-05	5.638e-05	0.0107	0.0013	0.0028	0.0047	0.0014	0.0014	0.0011	0.0017	0.0058	0.0013	0.0012	0.0041	0.0036	0.0002	0	0.0029	0.0069	0	0	0.0272	0.0014	0.0033	0.0058	0.108	0.29420	T	0.224	0.25591	T	0.001	0.07471	B	0.001	0.04355	B	0.777539	0.06634	N	1.144070	1	0.08975	N	1.445	0.36358	L	0.94	0.43672	T	-3.45	0.67589	D	0.181	0.19593	-0.9891	0.32828	T	0.026	0.11309	T	10	0.005949497	0.00133	T	0.003118	0.06786	T	0.013	0.01715	.	.	0.0551355673512	0.04727	0.025810512824234532	0.02532	0.0174000668708	0.01692	.	.	.	0.096922	0.39923	T	-0.621057	0.00108	T	-0.663929	0.08003	T	0.00478911691984368	0.00051	T	0.285671	0.05095	T	0.20796922	0.43018	0.21230693	0.45695	0.20796922	0.43018	0.21230693	0.45694	-1.757	0.02384	T	.	.	0.073	0.04681	B	.	.	0.747257	0.11166	7.807	0.67805466130581393	0.08465	0.01477	0.04919	N	AEFDBI	0.110001	0.21828	N	-1.16762852803248	0.05495	0.2506952	-1.18936839091032	0.06087	0.2919138	0.10476118711672	0.16484	0.516011	0.20929	0	0.610034	0.51514	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	4.33	1.31	0.20837	-0.355000	0.07721	-0.137000	0.11557	-0.375000	0.05424	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.5345:0.2178:0.2477	4.129	0.09610	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1575.98	34	chr6	36330545	.	T	G	1575.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.104;DP=803;ExcessHet=0.0000;FS=0.694;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=0.188;SOR=0.830	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1153	20	0	1	0
chr6	36366649	36366649	G	A	exonic	ETV7	.	nonsynonymous SNV	ETV7:NM_001207041:exon6:c.C569T:p.P190L	.	.	.	.	.	.	.	.	.	.	.	2446217	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.237	U	1.000	N	0.975	L	2.76	T	-1.085	T	0.037	T	0.142	1.512	11.01	1.62	0.009	0.373	5.483	0.051	0.00813346012336	.	.	3.295e-05	0	0	0	0	5.994e-05	0	0	3.23e-05	5	154602	rs145392208	3.557e-05	3.557e-05	2.995e-05	4.125e-05	0.0002	2.762e-05	2.501e-05	3.085e-05	2.753e-05	0	0	0	2.519e-05	0	0.0002	4.047e-05	6.623e-05	1.159e-05	2.63e-05	2.627e-05	2.571e-05	2.691e-05	4.411e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.415e-05	0	0	0	0	0	0	4.411e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.985	0.97372	D	0.237089	0.15793	U	0.565992	0.999999	0.18198	N	1.7	0.43825	L	2.76	0.19166	T	-3.58	0.73477	D	0.127	0.13484	-1.0854	0.06335	T	0.037	0.16029	T	10	0.11153042	0.20889	T	0.008133	0.21547	T	0.051	0.14325	0.274	0.22528	0.467752868181	0.46400	0.4314663262540393	0.43063	0.766525556682	0.64538	0.341808050871	0.16709	T	0.101116	0.40757	T	-0.319539	0.06935	T	-0.566321	0.15788	T	0.696181058883667	0.40537	D	0.79842	0.44325	T	0.14079547	0.32469	0.15561922	0.36470	0.14079547	0.32469	0.15561922	0.36470	-3.547	0.19525	T	.	.	0.115	0.38153	B	.;.;.;.;.;.	.;.;.;.;.;.	1.234955	0.16299	12.45	0.98915422979980849	0.48454	0.05913	0.11866	N	AEFDGBHCI	0.058980	0.11106	N	-0.611103285599197	0.18610	0.9675608	-0.760770445512333	0.15458	0.8130914	0.999943860989684	0.47345	0.656854	0.48797	0	0.719019	0.82233	0	0.67347	0.61138	0	0.567892	0.33627	0	.	.	4.58	1.62	0.22817	0.078000	0.14615	1.053000	0.23654	-0.244000	0.07312	0.004000	0.16614	0.731000	0.26417	0.037000	0.13953	0.187:0.0:0.6572:0.1558	5.483	0.16026	606	0.67383	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1495.98	35	chr6	36366649	.	G	A	1495.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.893;DP=834;ExcessHet=0.0000;FS=3.513;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=1.39;SOR=0.431	GT:AD:DP:GQ:PL	0/1:62,61:123:99:1510,0,1436	20	0	1	0
chr6	36375885	36375885	C	T	exonic	ETV7	.	nonsynonymous SNV	ETV7:NM_001207040:exon2:c.G50A:p.R17H	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.000	U	1.000	D	.	.	1.28	T	-0.722	T	0.168	T	0.662	4.620	25.3	3.38	1.449	7.032	14.355	0.398	0.0613428459412	.	0.000798722	0.0003	0.0003	8.646e-05	0.0002	0	0.0002	0	0.0014	0.0002846	44	154602	rs201419269	0.0002	0.0002	0.0001	0.0002	0.0011	0.0002	0.0001	0.0009	0.0009	0.0002	0.0001	0	0.0002	1.878e-05	0.0005	0.0001	0.0002	0.0011	0.0002	0.0002	0.0001	0.0002	0.0019	0.0001	0.0001	0.0010	0.0007	9.624e-05	0	0.0001	0	0.0002	9.414e-05	0	0.0001	0.0005	0.0019	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	U	0.000000	0.919436	0.81001	D	.	.	.	1.28	0.35960	T	-4.54	0.78472	D	0.686	0.70351	-0.7218	0.59374	T	0.168	0.50745	T	9	0.25999779	0.43444	T	0.061343	0.68300	D	0.398	0.71242	.	.	0.644655717422	0.64171	0.6083929965696628	0.60771	0.852508063545	0.68604	0.758094847202	0.75646	T	0.175382	0.52495	T	-0.230561	0.16574	T	-0.144495	0.59727	T	0.561565160751343	0.34914	D	0.980702	0.95998	D	0.7234441	0.79354	0.60448754	0.77011	0.7234441	0.79355	0.60448754	0.77012	-10.324	0.77425	D	.	.	0.633	0.78373	P	.;.;.;.	.;.;.;.	3.829218	0.55335	23.6	0.99921364161498571	0.98787	0.96112	0.67588	D	AEFDBCI	0.835357	0.75327	D	0.297097330973803	0.56003	3.764335	0.140529276096729	0.46643	2.906948	0.999999641536604	0.74766	0.653281	0.48532	0	0.659037	0.61890	0	0.527494	0.11647	0	0.542086	0.14980	0	.	.	3.38	3.38	0.37806	7.153000	0.77018	3.812000	0.39914	0.549000	0.26987	1.000000	0.71638	0.264000	0.24003	0.212000	0.22240	0.0:1.0:0.0:0.0	14.355	0.66291	588	0.69043	.;Pointed domain|Pointed domain|Pointed domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1587.98	35	chr6	36375885	.	C	T	1587.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.356;DP=835;ExcessHet=0.0000;FS=0.653;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.22;ReadPosRankSum=-3.660e-01;SOR=0.811	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1329	20	0	1	0
chr6	36684352	36684352	G	A	exonic	CDKN1A	.	nonsynonymous SNV	CDKN1A:NM_000389:exon2:c.G251A:p.R84Q	.	.	423	1096	3	0	0	3	0.00136674	.	.	710484	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.59	T	0.538	P	0.015	B	0.686	N	0.604	N	0	N	-0.06	T	-1.097	T	0.032	T	0.155	-0.309	2.528	2.45	0.974	0.652	6.519	0.036	0.0128948985085	0.0026	0.00159744	0.0029	0.0008	0.0013	0.0001	0.0025	0.0039	0.0047	0.0023	0.0028719	444	154602	rs34916193	0.0036	0.0036	0.0037	0.0035	0.0042	0.0035	0.0035	0.0041	0.0041	0.0006	0.0012	0.0004	0.0001	0.0015	0.0007	0.0042	0.0035	0.0019	0.0023	0.0023	0.0025	0.0022	0.0040	0.0021	0.0021	0.0036	0.0034	0.0010	0.0011	0.0016	0.0006	0.0004	0.0009	0	0.0040	0.0014	0.0006	0.379	0.11227	T	0.445	0.13140	T	0.244	0.31025	B	0.015	0.17295	B	0.685939	0.06118	N	1.209890	1	0.30914	N	0.345	0.11182	N	-0.06	0.63568	T	-0.17	0.09627	N	0.141	0.14196	-1.0972	0.04447	T	0.032	0.13679	T	10	0.005693376	0.00126	T	0.012895	0.31852	T	0.036	0.09122	.	.	0.615732620514	0.61262	0.36593125394936055	0.36507	0.202952709239	0.22713	0.306365787983	0.11359	T	0.022526	0.17353	T	-0.481118	0.00728	T	-0.461535	0.26431	T	0.0025321024952675	0.00026	T	0.639136	0.25234	T	0.06419129	0.13594	0.04371019	0.05501	0.06419129	0.13593	0.04371019	0.05501	-4.359	0.28996	T	.	.	0.081	0.08560	B	.;.;.;.;.	.;.;.;.;.	0.799290	0.11700	8.279	0.85158936865320489	0.15721	0.27466	0.23285	N	AEFDBHCI	0.189546	0.31679	N	-0.997571154014281	0.08655	0.4066668	-1.01294437216849	0.09500	0.472997	0.999999935849243	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	3.33	2.45	0.28953	0.663000	0.24735	3.858000	0.40123	0.435000	0.21004	0.023000	0.19925	0.991000	0.31484	0.009000	0.08673	0.1348:0.0:0.8652:0.0	6.519	0.21461	807	0.43470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1919.98	34	chr6	36684352	.	G	A	1919.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=931;ExcessHet=0.0000;FS=0.569;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.73;ReadPosRankSum=-1.025e+00;SOR=0.629	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	20	0	1	0
chr6	36721932	36721932	C	G	exonic	RAB44	.	nonsynonymous SNV	RAB44:NM_001257357:exon9:c.C1798G:p.P600A,	.	.	428	1075	19	0	0	19	0.0087598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00159744	0.0013	0	0	0	0	0.0023	0	0	0.0002911	45	154602	rs182774229	0.0012	0.0010	0.0012	0.0013	0.0178	0.0012	0.0012	0.0147	0.0135	0.0003	0.0026	0.0109	0.0001	9.283e-05	0.0178	0.0010	0.0020	0.0012	0.0015	0.0015	0.0015	0.0015	0.0036	0.0014	0.0013	0.0028	0.0026	0.0001	0	0.0036	0.0132	0	9.413e-05	0.0204	0.0016	0.0028	0.0012	.	.	.	0.04	0.50809	D	.	.	.	.	.	.	.	.	.	.	0.999864	0.19989	N	.	.	.	.	.	.	.	.	.	0.075	0.04913	.	.	.	.	.	.	.	0.004042834	0.00079	T	.	.	.	.	.	.	.	0.229264304666	0.22521	0.18392118528505477	0.18311	.	.	0.374632537365	0.21493	T	.	.	.	-0.442541	0.01249	T	-0.427471	0.30222	T	.	.	.	0.441056	0.12198	T	0.04643101	0.07771	0.1107051	0.26697	0.04643101	0.07770	0.1107051	0.26696	-3.747	0.20015	T	.	.	0.07	0.03479	B	.	.	0.510146	0.08789	5.567	0.65339827941105966	0.07745	0.12107	0.17064	N	AEFDBCIJ	0.057254	0.10651	N	.	.	.	.	.	.	0.934946985627837	0.27192	0.078448	0.01964	0	0.097471	0.02872	0	0.074216	0.02223	0	0.079188	0.02158	0	.	.	4.59	3.71	0.41733	-0.476000	0.06671	-0.262000	0.10418	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.8939:0.0:0.1061	8.927	0.34806	813	0.42397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1133.98	37	chr6	36721932	.	C	G	1133.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.253;DP=1154;ExcessHet=0.0000;FS=2.091;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.93;ReadPosRankSum=-1.484e+00;SOR=0.404	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,117,1755	20	0	1	0
chr6	36748255	36748255	G	C	exonic	CPNE5	.	nonsynonymous SNV	CPNE5:NM_001314018:exon4:c.C108G:p.N36K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.451	B	0.394	B	0.000	D	1.000	D	3.07	M	1.86	T	-1.068	T	0.065	T	0.382	2.768	15.22	1.9	0.513	0.022	7.734	0.198	0.0184351459477	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.018	0.59732	D	0.451	0.36091	B	0.394	0.44277	B	0.000000	0.84330	D	0.000000	0.999978	0.81001	D	3.535	0.93119	H	1.86	0.24285	T	-4.81	0.80767	D	0.924	0.97207	-1.0681	0.09836	T	0.065	0.26878	T	10	0.8305585	0.82219	D	0.018435	0.40505	T	0.198	0.48105	0.587	0.71497	0.475034548194	0.47131	0.8594744290205493	0.85910	1.01557786861	0.74933	0.859850645065	0.91089	D	0.411	0.76529	T	-0.0807826	0.39587	T	-0.353815	0.38767	T	0.936439573764801	0.60543	D	0.916508	0.70155	D	0.4476818	0.63894	0.4206459	0.66021	0.4476818	0.63895	0.4206459	0.66021	-11.073	0.83476	D	.	.	0.725	0.73992	P	.;.	.;.	3.768114	0.54107	23.4	0.99530688489922559	0.69839	0.87117	0.46561	D	AEFDBI	0.559627	0.56836	D	0.0949511372951049	0.46228	2.866361	0.0625792048032881	0.42683	2.586059	0.971472092896552	0.29290	0.706548	0.73137	0	0.723109	0.82256	0	0.578056	0.29568	0	0.714379	0.83352	0	.	.	4.79	1.9	0.24770	0.294000	0.18803	3.809000	0.39901	0.618000	0.50648	0.990000	0.36992	1.000000	0.68203	0.999000	0.91618	0.2963:0.0:0.7036:0.0	7.734	0.27967	851	0.35303	.;von Willebrand factor, type A|von Willebrand factor, type A|Copine	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	893.98	34	chr6	36748255	.	G	C	893.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.915;DP=800;ExcessHet=0.0000;FS=4.332;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.17;ReadPosRankSum=2.84;SOR=0.750	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1225	20	0	1	0
chr6	36963399	36963399	G	C	exonic	PI16	.	nonsynonymous SNV	PI16:NM_153370:exon5:c.G1057C:p.A353P	.	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.838	P	0.205	B	0.308	N	1.000	N	0	N	3.02	T	-0.919	T	0.003	T	0.107	0.840	8.392	-2.31	-0.196	0.003	1.218	0.075	0.00665653773469	.	.	0.0002	0	0.0003	0	0	6.019e-05	0.0044	0.0005	0.0001294	20	154602	rs550782025	0.0001	0.0001	6.262e-05	0.0001	0.0010	8.847e-05	8.333e-05	0.0008	0.0007	0	0	0	2.519e-05	3.745e-05	0.0005	4.766e-05	9.935e-05	0.0010	7.222e-05	7.218e-05	6.424e-05	8.055e-05	0.0008	3.968e-05	3.125e-05	0.0003	0.0002	0	0	0	0	0.0008	0	0	5.881e-05	0.0005	0.0004	0.126	0.27194	T	0.205	0.27145	T	0.838	0.46404	P	0.205	0.37080	B	0.308368	0.14477	N	0.616617	1	0.08975	N	1.245	0.31408	L	3.02	0.08986	T	-1.03	0.27052	N	0.065	0.03841	-0.9188	0.45716	T	0.003	0.00832	T	10	0.02684322	0.00842	T	0.006657	0.17585	T	0.075	0.21907	0.125	0.03095	0.128392430309	0.12331	0.1641696108908832	0.16336	0.647415020232	0.58120	0.272352993488	0.06449	T	0.017463	0.14244	T	-0.612101	0.00123	T	-0.733801	0.04157	T	0.0266385059803724	0.01494	T	0.470053	0.13899	T	0.09457519	0.22239	0.09942939	0.23739	0.09457519	0.22239	0.09942939	0.23738	-2.732	0.07575	T	.	.	0.081	0.08465	B	.;.;.	.;.;.	0.735503	0.11045	7.702	0.95773183810989659	0.27783	0.06223	0.12211	N	AEFDGBCI	0.082368	0.16678	N	-0.952545086810801	0.09636	0.456904	-1.04438024254198	0.08824	0.4357922	0.999807631590066	0.43304	0.608966	0.35542	0	0.681609	0.65952	0	0.607795	0.38427	0	0.562822	0.20929	0	.	.	5.08	-2.31	0.06380	-0.251000	0.08837	0.288000	0.16841	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.256000	0.23417	0.2789:0.0996:0.169:0.4524	1.218	0.01801	846	0.36215	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2299.98	44	chr6	36963399	.	G	C	2299.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.660e-01;DP=1532;ExcessHet=0.0000;FS=0.565;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.61;ReadPosRankSum=-2.420e-01;SOR=0.764	GT:AD:DP:GQ:PL	0/0:80,0:80:99:0,120,1800	20	0	1	0
chr6	36963610	36963610	C	T	exonic	PI16	.	nonsynonymous SNV	PI16:NM_153370:exon5:c.C1268T:p.P423L	.	.	413	1106	3	0	0	3	0.0013544	0.5702	0.318	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.906	P	0.36	B	0.041	N	1.000	D	0.895	L	3.09	T	-0.927	T	0.010	T	0.105	2.830	15.43	2.99	1.296	1.535	11.794	0.043	.	0.0002	0.00299521	0.0010	9.771e-05	8.685e-05	0.0111	0	0.0001	0.0034	0.0006	0.0009638	149	154602	rs138721292	0.0004	0.0004	0.0004	0.0004	0.0103	0.0004	0.0004	0.0095	0.0091	0	2.238e-05	0	0.0103	3.75e-05	0.0005	8.009e-05	0.0008	0.0006	0.0006	0.0006	0.0005	0.0006	0.0121	0.0005	0.0004	0.0097	0.0089	2.406e-05	0	0.0001	0	0.0121	0	0	0.0001	0.0005	0.0014	0.002	0.72154	D	0.005	0.72224	D	0.906	0.49993	P	0.36	0.43183	B	0.040807	0.24017	N	0.303860	0.787928	0.49637	D	2.175	0.60977	M	3.09	0.08371	T	-2.44	0.53420	N	0.177	0.19055	-0.9275	0.44502	T	0.010	0.03537	T	10	0.005001247	0.00108	T	.	.	.	0.043	0.11576	.	.	0.418964662724	0.41514	0.20133547085494136	0.20050	0.590566877047	0.54513	0.302476108074	0.10770	T	0.007351	0.06762	T	-0.590282	0.00167	T	-0.612857	0.11755	T	0.0258835791315668	0.01390	T	0.755524	0.37862	T	0.09156546	0.21459	0.15305866	0.35984	0.09156546	0.21459	0.15305866	0.35983	-3.782	0.20536	T	.	.	0.106	0.19598	B	.;.;.	.;.;.	3.698821	0.52737	23.3	0.99540132966783101	0.70461	0.64546	0.32442	D	AEFDBHCI	0.178773	0.30604	N	0.0892978434807873	0.45963	2.844286	0.118094330871891	0.45476	2.809966	0.999999612094866	0.74766	0.615755	0.39536	0	0.618376	0.53248	0	0.618376	0.41669	0	0.604944	0.38103	0	.	.	4.94	2.99	0.33673	1.135000	0.31067	3.413000	0.38202	0.599000	0.40250	0.799000	0.29708	1.000000	0.68203	0.920000	0.45560	0.3278:0.6722:0.0:0.0	11.794	0.51359	846	0.36215	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2009.98	44	chr6	36963610	.	C	T	2009.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.960e-01;DP=1241;ExcessHet=0.0000;FS=1.912;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=0.411;SOR=0.869	GT:AD:DP:GQ:PL	0/0:80,0:80:99:0,120,1800	20	0	1	0
chr6	37014659	37014659	G	A	exonic	FGD2	.	nonsynonymous SNV	FGD2:NM_173558:exon7:c.G837A:p.M279I,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.01	B	0.006	B	0.038	N	0.705	D	-0.485	N	-0.02	T	-1.105	T	0.043	T	0.159	1.106	9.511	3.67	1.108	1.806	13.050	0.045	0.00683023650026	.	.	1.649e-05	0	0	0	0	3.001e-05	0	0	1.29e-05	2	154602	rs199640627	3.147e-05	3.147e-05	3.404e-05	2.888e-05	0.0002	2.412e-05	2.158e-05	2.828e-05	2.507e-05	0	0	0	0	0	0.0002	3.777e-05	4.968e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	0.12226	T	0.42	0.14116	T	0.01	0.15535	B	0.006	0.12133	B	0.038092	0.24325	N	0.351864	0.705287	0.33463	D	-0.345	0.03330	N	-0.02	0.62918	T	0.08	0.06026	N	0.214	0.23884	-1.1045	0.03588	T	0.043	0.18576	T	10	0.08378634	0.13974	T	0.00683	0.18065	T	0.045	0.12272	0.504	0.59770	0.421674004627	0.41782	0.47075770407440565	0.46994	0.142435112065	0.16065	0.335206389427	0.15719	T	0.009022	0.08238	T	-0.152653	0.27897	T	-0.441566	0.28634	T	0.213636446611375	0.21142	T	0.884811	0.60904	D	0.12005639	0.28258	0.12889674	0.31002	0.12005639	0.28258	0.12889674	0.31002	-3.66	0.18729	T	.	.	0.359	0.57180	A	.	.	2.080352	0.26459	17.12	0.96069886149793882	0.28620	0.96017	0.67157	D	AEFDBI	0.552179	0.56395	D	-0.484827277863987	0.22579	1.206542	-0.271305304408171	0.29048	1.624364	0.997759129858651	0.35989	0.460665	0.09802	0	0.577304	0.33150	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.55	3.67	0.41236	1.194000	0.31783	5.492000	0.48750	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.3091:0.6909:0.0	13.050	0.58357	858	0.34001	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	692.98	36	chr6	37014659	.	G	A	692.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.970e-01;DP=763;ExcessHet=0.0000;FS=2.122;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.00;ReadPosRankSum=1.22;SOR=1.071	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1058	20	0	1	0
chr6	37284381	37284381	C	T	exonic	TBC1D22B	.	nonsynonymous SNV	TBC1D22B:NM_017772:exon6:c.C718T:p.R240W,	.	.	.	.	.	.	.	.	.	.	.	2375923	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.72	H	2.7	T	-0.632	T	0.105	T	0.89	4.123	21.3	0.448	0.365	0.200	15.668	0.406	0.126932106778	.	.	8.257e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs751520700	7.529e-06	7.524e-06	9.535e-06	5.503e-06	1.161e-05	4.04e-06	2.95e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.095e-06	1.657e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.5	0.92762	M	2.7	0.12162	T	-7.3	0.94484	D	0.81	0.80572	-0.6318	0.63494	T	0.105	0.38562	T	10	0.805194	0.79867	D	0.126932	0.80867	D	0.406	0.71869	0.558	0.67684	0.784233792205	0.78223	0.7696648650756733	0.76915	1.6632084262	0.89711	0.822982311249	0.85485	D	0.400282	0.75790	T	0.174313	0.71518	D	0.0126119	0.71151	D	0.968269999533102	0.68184	D	0.996	0.98587	D	0.8140187	0.84820	0.67972904	0.81183	0.8140187	0.84821	0.67972904	0.81184	-11.71	0.83410	D	.	.	0.926	0.84689	P	.	.	4.888513	0.80238	27.3	0.99917729553936363	0.98518	0.88218	0.48048	D	AEFBI	0.496045	0.53116	N	0.510469416934911	0.67705	5.117717	0.36514936782804	0.59426	4.120226	0.658748262549821	0.22247	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	0.448	0.15824	0.212000	0.17289	2.205000	0.31320	0.599000	0.40250	0.985000	0.35982	1.000000	0.68203	0.998000	0.85391	0.5679:0.4321:0.0:0.0	15.668	0.77002	709	0.56835	Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2043.98	35	chr6	37284381	.	C	T	2043.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.37;DP=819;ExcessHet=0.0000;FS=3.607;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.89;ReadPosRankSum=0.757;SOR=1.101	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1254	20	0	1	0
chr6	37390764	37390764	G	A	exonic	RNF8	.	nonsynonymous SNV	RNF8:NM_183078:exon7:c.G1259A:p.R420H,	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	.	.	.	.	.	.	1.000	N	.	.	0.74	T	-0.969	T	0.040	T	0.149	1.464	10.84	-6.67	-1.418	-1.246	3.506	0.045	0.00100551078692	7.7e-05	0.000399361	2.473e-05	0	0	0	0	1.5e-05	0	0.0001	3.88e-05	6	154602	rs149383616	3.353e-05	3.625e-05	2.86e-05	3.851e-05	0.0009	2.567e-05	2.312e-05	0.0003	0.0002	0	0	0	0	0	0.0009	2.339e-05	6.626e-05	0.0002	6.567e-05	6.562e-05	8.995e-05	4.029e-05	0.0002	3.515e-05	2.615e-05	3.763e-05	2.575e-05	4.812e-05	0	0	0	0.0002	0	0	8.822e-05	0	0.0002	0.289	0.15047	T	0.413	0.14412	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.74	0.50459	T	2.35	0.00275	N	0.117	0.10626	-0.9694	0.37324	T	0.040	0.17106	T	6	0.037265718	0.02071	T	0.001006	0.01073	T	0.045	0.12272	.	.	0.346610688518	0.34274	.	.	.	.	.	.	.	.	.	.	-0.427433	0.01536	T	-0.615086	0.11575	T	0.0242274979422406	0.01173	T	0.359064	0.08235	T	.	.	.	.	.	.	.	.	-0.89	0.00886	T	.	.	0.076	0.06024	B	.	.	-0.793086	0.01120	0.051	0.93701735284392162	0.23613	0.00365	0.01864	N	AEFDBI	0.017416	0.00455	N	-1.19906809787613	0.05014	0.2276249	-1.42473961435914	0.03006	0.1394304	0.792881667662761	0.24046	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.58	-6.67	0.01618	-1.243000	0.03015	-0.102000	0.11930	-1.361000	0.01181	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.288:0.1335:0.4483:0.1303	3.506	0.07251	740	0.53092	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	683.98	34	chr6	37390764	.	G	A	683.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.29;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.14;ReadPosRankSum=-1.599e+00;SOR=0.756	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1118	20	0	1	0
chr6	37483209	37483209	C	T	exonic	CCDC167	.	nonsynonymous SNV	CCDC167:NM_138493:exon4:c.G271A:p.V91I,	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	.	.	.	.	-0.982	T	0.011	T	0.043	-0.712	0.932	-9.26	-1.732	-1.958	11.473	0.027	0.00608996634474	7.7e-05	.	2.472e-05	0	0	0	0	1.499e-05	0	0.0001	1.94e-05	3	154602	rs138745679	1.847e-05	1.847e-05	1.634e-05	2.063e-05	0.0001	1.265e-05	1.084e-05	6.246e-05	4.757e-05	0	2.236e-05	0	0	0	0	1.439e-05	0	0.0001	6.57e-06	6.567e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	0.37	0.03639	N	0.009	0.00081	-0.9822	0.34491	T	0.011	0.04321	T	7	0.020050764	0.00456	T	0.00609	0.15934	T	0.027	0.05988	.	.	0.0138822411134	0.00435	0.19079195373879868	0.18997	0.0956654505413	0.10807	0.296734243631	0.09916	T	0.02	0.15827	T	-0.517236	0.00456	T	-0.778096	0.02512	T	0.0253366616578972	0.01317	T	0.530047	0.17581	T	0.009479241	0.00003	0.028064914	0.01010	0.009479241	0.00003	0.028064914	0.01009	-3.325	0.14061	T	.	.	0.061	0.01179	B	.	.	-1.374018	0.00379	0.007	0.82001377325692337	0.13968	0.02482	0.06953	N	AEFDGBHCI	0.046946	0.07852	N	-1.55746732852339	0.01491	0.0651102	-1.65288684277199	0.01361	0.06145989	0.999999926128239	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.25	-9.26	0.00563	-1.859000	0.01749	-2.963000	0.03187	-0.842000	0.02783	0.000000	0.06391	0.000000	0.08366	0.121000	0.19209	0.0:0.5509:0.1038:0.3454	11.473	0.49529	779	0.47767	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1381.98	38	chr6	37483209	.	C	T	1381.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.570e-01;DP=959;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=-1.760e-01;SOR=0.683	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	20	0	1	0
chr6	37637433	37637433	G	A	exonic	MDGA1	.	nonsynonymous SNV	MDGA1:NM_153487:exon17:c.C2803T:p.P935S,	.	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.0	B	0.0	B	0.040	N	1.000	N	0	N	0.68	T	-1.024	T	0.032	T	0.061	0.987	9.031	3.79	1.032	0.127	1.729	0.085	0.00709802043731	8e-05	0.00119808	0.0009	0	0	0.0001	0	1.539e-05	0.0011	0.0066	0.0008085	125	154602	rs368283829	0.0004	0.0004	0.0002	0.0006	0.0061	0.0004	0.0004	0.0057	0.0055	0	0	3.828e-05	0	0	0	1.709e-05	0.0005	0.0061	0.0002	0.0002	0.0001	0.0004	0.0072	0.0002	0.0002	0.0054	0.0047	4.809e-05	0	0	0	0	0	0	0	0	0.0072	0.157	0.23997	T	0.919	0.02882	T	0.0	0.02946	B	0.0	0.01387	B	0.040300	0.01876	N	2.375910	0.99592	0.23164	N	0	0.06538	N	0.54	0.54911	T	-0.69	0.19720	N	0.049	0.02088	-1.0237	0.22508	T	0.032	0.13548	T	10	0.004071951	0.00080	T	0.007098	0.18814	T	0.085	0.24743	.	.	0.179529687257	0.17594	0.3383483539055604	0.33747	0.27685159354	0.30152	0.316940069199	0.12958	T	0.04567	0.27194	T	-0.618599	0.00112	T	-0.658183	0.08390	T	0.0154736069013546	0.00349	T	0.589541	0.21661	T	0.031368386	0.02964	0.050027642	0.07768	0.031368386	0.02964	0.050027642	0.07767	-2.836	0.08520	T	.	.	0.062	0.01348	B	.	.	1.393736	0.18068	13.53	0.92802882759002459	0.22326	0.27773	0.23370	N	AEFBCI	0.052999	0.09511	N	-0.518410470084063	0.21484	1.140536	-0.35710473751024	0.26290	1.451161	0.999950643079923	0.48110	0.516011	0.20929	0	0.588066	0.40923	0	0.608075	0.38828	0	0.586402	0.36253	0	.	.	4.77	3.79	0.42757	-0.009000	0.12703	2.427000	0.32714	-0.105000	0.15698	0.568000	0.27489	1.000000	0.68203	0.093000	0.17941	0.2776:0.0:0.4066:0.3158	1.729	0.02751	886	0.28090	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1606.98	33	chr6	37637433	.	G	A	1606.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=870;ExcessHet=0.0000;FS=0.629;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.56;ReadPosRankSum=-9.570e-01;SOR=0.630	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1116	20	0	1	0
chr6	37646268	37646268	C	G	exonic	MDGA1	.	nonsynonymous SNV	MDGA1:NM_153487:exon11:c.G2154C:p.E718D,	.	.	422	1073	26	1	0	28	0.0128795	.	.	710494	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.13	T	0.982	D	0.581	P	0.000	D	0.980	D	1.795	L	0.62	T	-0.891	T	0.147	T	0.514	4.297	22.5	4.0	1.449	2.530	8.565	0.122	.	0.0088	0.00898562	0.0045	0.0323	0.0020	0.0007	0	0.0004	0.0103	0.0090	0.0029172	451	154602	rs192113659	0.0012	0.0012	0.0011	0.0012	0.0245	0.0011	0.0011	0.0231	0.0226	0.0245	0.0027	0.0002	0.0003	0	0.0023	0.0001	0.0028	0.0053	0.0080	0.0080	0.0078	0.0082	0.0265	0.0076	0.0075	0.0252	0.0247	0.0265	0	0.0042	0	0.0002	0	0.0068	0.0003	0.0057	0.0029	0.015	0.53172	D	0.047	0.50809	D	0.982	0.60036	D	0.581	0.50218	P	0.000153	0.49130	D	0.000000	0.980081	0.39629	D	2.16	0.60381	M	0.62	0.53302	T	-1.19	0.30346	N	0.885	0.88798	-0.8912	0.48828	T	0.147	0.47201	T	10	0.0096515715	0.00217	T	.	.	.	0.122	0.33800	0.36	0.36385	0.550531271145	0.54709	0.6755507098651532	0.67493	0.88397339587	0.69886	0.623381257057	0.56206	T	0.141548	0.47667	T	-0.378657	0.03177	T	-0.297767	0.44960	T	0.0285768425502946	0.01772	T	0.942806	0.78426	D	0.1558519	0.35202	0.15406343	0.36174	0.1558519	0.35201	0.15406343	0.36173	-8.121	0.62566	D	.	.	0.418	0.66376	A	.;.;.	.;.;.	5.483335	0.91405	32	0.99821565569279003	0.90414	0.97537	0.75396	D	AEFDGBI	0.755112	0.69478	D	0.219240806939883	0.52133	3.389395	0.275764911471582	0.54129	3.57876	0.999986440113294	0.51787	0.516011	0.20929	0	0.610034	0.51514	0	0.577349	0.28860	0	0.604944	0.38103	0	.	.	5.78	4.0	0.45673	2.616000	0.46041	2.214000	0.31393	0.599000	0.40250	1.000000	0.71638	0.919000	0.28284	0.998000	0.85391	0.0:0.767:0.0:0.233	8.565	0.32695	890	0.26919	Fibronectin type III|Fibronectin type III;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1129.98	34	chr6	37646268	.	C	G	1129.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.264e+00;DP=821;ExcessHet=0.0000;FS=1.581;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.30;ReadPosRankSum=0.183;SOR=0.785	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1221	20	0	1	0
chr6	38770512	38770512	A	G	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon11:c.A1066G:p.M356V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.044	B	0.081	B	0.000	D	0.914	D	1.825	L	0.55	T	-1.000	T	0.097	T	0.636	1.938	12.44	5.45	2.201	3.342	14.042	0.145	0.0103632423911	.	.	8.539e-06	0	0	0	0	0	0	6.369e-05	6.5e-06	1	154602	rs759089510	7.565e-06	8.209e-06	4.104e-06	1.106e-05	2.378e-05	4.06e-06	2.97e-06	3.95e-06	2.76e-06	0	0	0	0	0	0	8.107e-06	0	2.378e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.719	0.11156	T	.	.	.	0.044	0.21686	B	0.081	0.28987	B	0.000036	0.55875	D	0.161043	0.913794	0.36482	D	1.495	0.37439	L	0.55	0.54728	T	-2.8	0.60827	D	0.254	0.30461	-0.9999	0.29945	T	0.097	0.36289	T	10	0.18854716	0.34414	T	0.010363	0.26807	T	0.145	0.38592	0.493	0.58048	0.574230370252	0.57090	0.3990755174059954	0.39822	0.129854084997	0.14643	0.72917509079	0.71386	T	0.031776	0.22192	T	0.0183235	0.54155	T	-0.211456	0.53556	T	0.276729702949524	0.24033	T	0.806819	0.45619	T	0.61265874	0.73370	0.66389596	0.80297	0.61265874	0.73371	0.66389596	0.80298	-3.865	0.21779	T	.	.	0.209	0.43572	B	.;.;.	.;.;.	2.684136	0.35018	19.79	0.94927706553242064	0.25808	0.93698	0.58936	D	AEFBI	0.544923	0.55965	D	0.0225698014627798	0.42882	2.59225	0.181438313322753	0.48831	3.093803	0.999999997796603	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.635259	0.50027	0	.	.	5.45	5.45	0.79688	2.494000	0.44988	9.175000	0.79052	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.042	0.64202	594	0.68584	Dynein heavy chain, domain-1;Dynein heavy chain, domain-1;Dynein heavy chain, domain-1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1110.98	33	chr6	38770512	.	A	G	1110.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.268e+00;DP=777;ExcessHet=0.0000;FS=0.765;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=0.736;SOR=0.546	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1055	20	0	1	0
chr6	38803192	38803192	A	T	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon21:c.A2264T:p.E755V	.	.	435	1074	11	2	0	15	0.00693481	.	.	226790	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.29	T	0.026	B	0.016	B	0.000	D	0.998	D	1.7	L	1.77	T	-1.101	T	0.041	T	0.757	2.405	14.00	5.63	2.263	5.646	13.651	0.175	.	0.0008	0.0155751	0.0084	9.711e-05	0.0006	0.0389	0	0.0007	0.0112	0.0381	0.0073802	1141	154602	rs139961713	0.0033	0.0035	0.0024	0.0043	0.0340	0.0033	0.0032	0.0330	0.0325	0.0004	0.0013	0.0002	0.0294	0	0.0092	0.0005	0.0043	0.0340	0.0029	0.0029	0.0021	0.0038	0.0377	0.0027	0.0026	0.0332	0.0315	0.0001	0	0.0014	0	0.0357	0	0.0068	0.0006	0.0019	0.0377	0.16	0.23721	T	.	.	.	0.026	0.19406	B	0.016	0.17743	B	0.000002	0.62929	D	0.056631	0.998157	0.44569	D	2.32	0.66415	M	1.61	0.28391	T	-2.63	0.56466	D	0.743	0.74371	-1.1012	0.03949	T	0.041	0.17488	T	10	0.0049007535	0.00105	T	.	.	.	0.175	0.44197	.	.	0.601095518603	0.59790	0.5794384601802138	0.57872	0.163403841518	0.18430	0.495767742395	0.38238	T	0.031977	0.22285	T	-0.303897	0.08296	T	-0.182144	0.56325	T	0.022446608822666	0.00959	T	0.746525	0.36724	T	0.28162768	0.51205	0.2895242	0.54972	0.25956735	0.49010	0.2766209	0.53607	-4.676	0.33112	T	.	.	0.251	0.53625	B	.;.;.	.;.;.	3.381300	0.46769	22.4	0.98140405771353367	0.38597	0.94591	0.61666	D	AEFBHCI	0.621014	0.60586	D	0.0607193182860931	0.44638	2.734117	0.238160928124357	0.51977	3.375985	0.999989543661496	0.51787	0.615465	0.37627	0	0.588015	0.36545	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.63	5.63	0.86108	6.073000	0.70878	11.102000	0.86142	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	13.651	0.61781	495	0.76383	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	925.98	47	chr6	38803192	.	A	T	925.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.876e+00;DP=818;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.40;ReadPosRankSum=1.24;SOR=0.784	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1221	20	0	1	0
chr6	38803213	38803213	A	G	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon21:c.A2285G:p.H762R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.0	B	0.013	N	0.594	D	1.355	L	1.98	T	-1.016	T	0.016	T	0.335	0.819	8.295	4.47	1.064	2.960	9.812	0.082	0.00500033163357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.11298	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	0.013161	0.28928	N	0.391473	0.593964	0.32480	D	1.145	0.29067	L	1.82	0.25018	T	-0.36	0.26422	N	0.457	0.50868	-1.0159	0.25045	T	0.016	0.06616	T	10	0.18567312	0.33998	T	0.005	0.12629	T	0.082	0.23913	0.287	0.24601	0.482936932564	0.47924	0.5013480190215444	0.50056	0.149729052817	0.16885	0.615746617317	0.55127	T	0.002235	0.01836	T	-0.177165	0.24159	T	-0.492261	0.23155	T	0.336510896682739	0.26485	T	0.273673	0.04873	T	0.058687255	0.11837	0.0675319	0.13984	0.058687255	0.11837	0.0675319	0.13983	-2.413	0.05213	T	.	.	0.146	0.32275	B	.;.;.	.;.;.	2.000693	0.25418	16.76	0.81084714917796119	0.13512	0.80766	0.40321	D	AEFBHCI	0.339028	0.43631	N	-0.40300345222046	0.25365	1.376306	-0.214810816953811	0.31003	1.750665	0.996562343666348	0.34833	0.615465	0.37627	0	0.588015	0.36545	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.63	4.47	0.53770	2.639000	0.46236	6.087000	0.53406	-0.041000	0.17446	0.979000	0.35152	1.000000	0.68203	0.978000	0.57271	0.9205:0.0:0.0795:0.0	9.812	0.39996	495	0.76383	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1428.98	47	chr6	38803213	.	A	G	1428.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=876;ExcessHet=0.0000;FS=0.703;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=0.420;SOR=0.578	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1221	20	0	1	0
chr6	38823023	38823023	G	C	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon26:c.G3058C:p.V1020L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.0	B	0.001	B	0.157	N	1.000	N	0.895	L	1.92	T	-1.026	T	0.019	T	0.244	0.123	4.659	4.67	1.344	1.200	10.758	0.059	0.00514649154307	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.406e-06	1.368e-06	1.397e-06	1.416e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.71e-05	0	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.283	0.16412	T	.	.	.	0.0	0.02946	B	0.001	0.04355	B	0.157293	0.17774	N	0.562939	1	0.08975	N	0.755	0.19153	N	1.76	0.25996	T	-1.16	0.30762	N	0.305	0.34444	-1.0260	0.21756	T	0.019	0.07939	T	10	0.12629318	0.24008	T	0.005146	0.13063	T	0.059	0.16972	0.309	0.28128	0.306053231325	0.30222	0.34359101426781075	0.34273	0.119823001856	0.13497	0.355792880058	0.18771	T	0.012022	0.10639	T	-0.225984	0.17183	T	-0.562387	0.16153	T	0.123142540454865	0.14734	T	0.816518	0.47234	T	0.099084005	0.23380	0.08922389	0.20851	0.099084005	0.23380	0.08922389	0.20850	-3.638	0.18408	T	.	.	0.086	0.14339	B	.;.;.	.;.;.	1.131959	0.15185	11.66	0.882914130223446	0.17862	0.44141	0.27253	N	AEFBI	0.115120	0.22649	N	-0.578596659303789	0.19595	1.026816	-0.491150677872621	0.22396	1.216245	0.00270358071850419	0.09647	0.638212	0.43195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.53	4.67	0.58089	1.375000	0.33900	2.799000	0.34841	0.618000	0.50648	0.197000	0.24273	0.999000	0.35428	0.072000	0.16771	0.151:0.0:0.849:0.0	10.758	0.45447	464	0.78488	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2449.98	35	chr6	38823023	.	G	C	2449.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.121e+00;DP=904;ExcessHet=0.0000;FS=11.488;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=-1.420e-01;SOR=0.435	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1355	20	0	1	0
chr6	38845636	38845636	G	T	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon35:c.G4257T:p.E1419D	.	YES	437	1043	40	2	0	44	0.0206573	.	.	239918	Spermatogenic_failure_46|Primary_ciliary_dyskinesia	MONDO:MONDO:0033673,MedGen:C5436799,OMIM:619095|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.6	T	0.302	B	0.229	B	0.076	N	1.000	N	0.53	N	0.15	T	-0.962	T	0.068	T	0.128	2.169	13.21	-2.42	-0.212	-1.650	1.224	0.062	.	0.0053	0.00638978	0.0075	0.0008	0.0035	0.0002	0.0009	0.0072	0.0099	0.0221	0.0071474	1105	154602	rs61757219	0.0068	0.0068	0.0062	0.0074	0.0226	0.0067	0.0066	0.0217	0.0214	0.0010	0.0036	0.0038	0.0002	0.0012	0.0187	0.0064	0.0067	0.0226	0.0050	0.0050	0.0050	0.0049	0.0191	0.0047	0.0046	0.0159	0.0148	0.0009	0	0.0056	0.0017	0.0002	0.0011	0.0272	0.0074	0.0076	0.0191	0.438	0.09319	T	.	.	.	0.302	0.32608	B	0.229	0.38155	B	0.075996	0.21190	N	0.509796	0.999999	0.08975	N	1	0.25136	L	0.15	0.60734	T	-0.51	0.17624	N	0.18	0.20129	-0.9620	0.38800	T	0.068	0.27980	T	10	0.004161775	0.00082	T	.	.	.	0.062	0.17934	0.443	0.49975	0.540518506614	0.53704	0.3513559497602917	0.35049	0.110355847476	0.12451	0.426474988461	0.28726	T	0.009835	0.40305	T	-0.560414	0.00252	T	-0.560853	0.16297	T	0.0066639197636007	0.00075	T	0.59804	0.22252	T	0.04480855	0.07226	0.052961834	0.08829	0.035336696	0.04141	0.041304443	0.04664	-1.842	0.02637	T	.	.	0.071	0.03736	B	.;.;.	.;.;.	1.375734	0.17868	13.41	0.99028428054756534	0.50742	0.05381	0.11245	N	AEFBI	0.083879	0.16995	N	-0.739642811632707	0.14916	0.7471771	-0.706619607950186	0.16795	0.8901936	2.54996149175176E-4	0.06190	0.623552	0.39893	0	0.588015	0.36545	0	0.547309	0.15389	0	0.579976	0.35079	0	.	.	5.53	-2.42	0.06164	-1.271000	0.02936	0.532000	0.19257	0.676000	0.76740	0.001000	0.13787	0.995000	0.32472	0.998000	0.85391	0.2452:0.0999:0.2495:0.4053	1.224	0.01813	447	0.79583	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.04762	2961.11	34	chr6	38845636	.	G	T	2961.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.419e+00;DP=960;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.18;ReadPosRankSum=0.995;SOR=0.673	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1229	19	0	2	0
chr6	38848746	38848746	G	C	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon36:c.G4493C:p.W1498S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.415	H	-1.02	T	0.852	D	0.788	D	0.967	4.798	27.1	5.78	2.749	9.637	20.012	0.815	0.333449780285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.000015	0.62929	D	0.123853	1	0.81001	D	4.62	0.99303	H	-1.02	0.76300	T	-13.15	0.99901	D	0.967	0.98657	0.852	0.95053	D	0.788	0.92818	D	10	0.97668016	0.97467	D	0.33345	0.91816	D	0.815	0.94046	0.82	0.93328	0.912223512337	0.91134	0.8876026207159929	0.88729	0.739716431452	0.63183	0.816607475281	0.84507	D	0.502176	0.93204	D	0.418332	0.90933	D	0.363129	0.90820	D	0.999963045120239	0.99918	D	0.995811	0.98540	D	0.93692416	0.94935	0.94260186	0.97937	0.93692416	0.94935	0.94260186	0.97938	-12.275	0.86164	D	.	.	0.994	0.97573	P	.;.;.	.;.;.	4.668084	0.74577	26.2	0.99078106248586062	0.51906	0.99146	0.91905	D	AEFBI	0.925581	0.90536	D	1.17734840386891	0.99315	21.86225	1.0830071607203	0.99686	25.24724	0.999999998764284	0.74766	0.516011	0.20929	0	0.573888	0.26702	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.78	5.78	0.91418	9.769000	0.98151	11.626000	0.93661	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.012	0.97463	455	0.79073	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.04762	2217.08	80	chr6	38848746	.	G	C	2217.08	.	AC=2;AF=0.048;AN=42;DP=767;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=27.71;SOR=1.096	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1042	20	1	0	0
chr6	38853282	38853282	G	A	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon40:c.G5017A:p.A1673T	.	.	.	.	.	.	.	.	.	.	.	563579	Primary_ciliary_dyskinesia|not_specified	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.974	D	0.000	D	1.000	D	3.035	M	-0.08	T	-0.068	T	0.464	T	0.745	3.946	20.2	5.69	2.683	5.629	19.814	0.521	0.0429374808172	0.0002	.	0.0001	0	0	0	0	4.506e-05	0	0.0007	9.06e-05	14	154602	rs375461103	4.998e-05	4.994e-05	4.087e-05	5.918e-05	0.0005	4.062e-05	3.737e-05	0.0003	0.0003	0	0	0	0	0	0.0003	2.609e-05	4.972e-05	0.0005	4.602e-05	4.598e-05	2.57e-05	6.73e-05	0.0004	2.11e-05	1.528e-05	7.293e-05	3.03e-05	0	0	0	0	0	0	0	5.881e-05	0.0005	0.0004	0.006	0.61437	D	.	.	.	1.0	0.90584	D	0.974	0.73157	D	0.000014	0.62929	D	0.112224	1	0.81001	D	3.49	0.92661	M	-0.08	0.63911	T	-3.7	0.70553	D	0.684	0.71676	-0.0677	0.80830	T	0.464	0.79279	T	10	0.67665833	0.71031	D	0.042937	0.60723	D	0.521	0.79643	.	.	0.727257869051	0.72483	0.5893406877634692	0.58864	0.552691625033	0.52069	0.519898235798	0.41612	T	0.121234	0.79015	T	-0.0760722	0.40353	T	0.00466967	0.70637	D	0.91444319486618	0.57109	D	0.811819	0.46320	T	0.3430733	0.56523	0.37258485	0.62464	0.3430733	0.56523	0.37258485	0.62463	-8.514	0.64522	D	.	.	0.339	0.56198	B	.;.;.	.;.;.	3.379634	0.46740	22.3	0.99892972195382679	0.96666	0.92466	0.55777	D	AEFBHCI	0.570416	0.57480	D	0.625994132657439	0.74824	6.198671	0.500130322442807	0.68001	5.159996	0.999971706736717	0.50053	0.623552	0.39893	0	0.627178	0.54094	0	0.547309	0.15389	0	0.579976	0.35079	0	.	.	5.69	5.69	0.88346	5.521000	0.66800	11.783000	0.96163	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.875000	0.41745	0.0:0.0:1.0:0.0	19.814	0.96556	481	0.77356	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	718.98	33	chr6	38853282	.	G	A	718.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.500e-02;DP=781;ExcessHet=0.0000;FS=1.670;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.41;ReadPosRankSum=0.665;SOR=0.631	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1030	20	0	1	0
chr6	38853315	38853315	C	T	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon40:c.C5050T:p.L1684F	.	.	437	1080	5	0	0	5	0.00230947	.	.	395486	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.17	T	0.783	P	0.26	B	0.000	D	1.000	D	1.33	L	1.73	T	-1.125	T	0.040	T	0.321	2.654	14.84	5.59	2.636	2.122	14.774	0.112	.	0.0058	0.00778754	0.0017	0.0180	0.0007	0	0	7.502e-05	0	0	0.0016753	259	154602	rs111580219	0.0005	0.0005	0.0006	0.0005	0.0179	0.0005	0.0005	0.0167	0.0162	0.0179	0.0011	0	0	0	0.0024	4.318e-05	0.0012	3.484e-05	0.0049	0.0049	0.0050	0.0047	0.0169	0.0046	0.0045	0.0158	0.0154	0.0169	0	0.0016	0	0	0	0.0034	7.349e-05	0.0043	0	0.194	0.22138	T	.	.	.	0.783	0.44368	P	0.26	0.39460	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.78	0.46185	L	1.56	0.29602	T	-3.58	0.69118	D	0.742	0.78072	-1.1250	0.02037	T	0.040	0.17020	T	10	0.005628437	0.00125	T	.	.	.	0.112	0.31546	.	.	0.514923749907	0.51134	0.41884509054221053	0.41800	0.158307195494	0.17880	0.575615763664	0.49468	T	0.08047	0.37244	T	-0.486203	0.00682	T	-0.456894	0.26938	T	0.0273121769269602	0.01589	T	0.905309	0.66640	D	0.4350573	0.63083	0.4191243	0.65916	0.44525686	0.63741	0.4057897	0.64970	-8.286	0.63002	D	.	.	0.410	0.60106	A	.;.;.	.;.;.	3.141485	0.42488	21.5	0.9959489158221656	0.73866	0.71937	0.35231	D	AEFBHCI	0.172834	0.29989	N	0.268205161652581	0.54544	3.619765	0.366154450844071	0.59486	4.126936	0.79945527728395	0.24160	0.623552	0.39893	0	0.563428	0.19063	0	0.547309	0.15389	0	0.579976	0.35079	0	.	.	5.59	5.59	0.84677	2.676000	0.46550	4.873000	0.45587	0.599000	0.40250	0.986000	0.36153	1.000000	0.68203	0.999000	0.91618	0.0:0.9289:0.0:0.0711	14.774	0.69321	481	0.77356	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	776.98	33	chr6	38853315	.	C	T	776.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.94;DP=755;ExcessHet=0.0000;FS=2.122;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=3.00;SOR=1.071	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1030	20	0	1	0
chr6	38870503	38870503	C	T	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon48:c.C6280T:p.H2094Y	.	.	.	.	.	.	.	.	.	.	.	560722	not_specified|Primary_ciliary_dyskinesia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.0	B	0.002	B	0.117	N	1.000	N	0.805	L	2.31	T	-0.953	T	0.012	T	0.145	0.863	8.496	-1.18	-0.084	1.745	12.595	0.061	0.00643512217736	0.0002	.	3.306e-05	0	0	0	0	4.509e-05	0	6.071e-05	2.59e-05	4	154602	rs370226425	1.779e-05	1.779e-05	1.77e-05	1.788e-05	0.0003	1.238e-05	1.051e-05	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	1.889e-05	1.656e-05	2.319e-05	2.629e-05	2.627e-05	1.285e-05	4.036e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0.0005	0	0.025	0.49613	D	.	.	.	0.0	0.02946	B	0.002	0.06944	B	0.116542	0.19189	N	0.582086	1	0.08975	N	1.525	0.38595	L	2.31	0.16794	T	-1.98	0.47344	N	0.309	0.34874	-0.9532	0.40416	T	0.012	0.04463	T	10	0.13084614	0.24901	T	0.006435	0.16927	T	0.061	0.17616	.	.	0.325263233342	0.32141	0.3707820870680264	0.36992	0.152986545687	0.17264	0.294794678688	0.09627	T	0.030515	0.21612	T	-0.390128	0.02685	T	-0.61664	0.11450	T	0.0315887889093682	0.02241	T	0.489451	0.15024	T	0.10348706	0.24460	0.16955948	0.38999	0.10348706	0.24460	0.16955948	0.38998	-5.267	0.39615	T	.	.	0.094	0.14431	B	.;.;.	.;.;.	1.100504	0.14849	11.38	0.93418225895000939	0.23185	0.70936	0.34799	D	AEFBI	0.213689	0.33924	N	-1.03135783134784	0.07958	0.3715007	-0.976524524527513	0.10313	0.5186597	3.25104257882384E-4	0.06540	0.625279	0.40028	0	0.588015	0.36545	0	0.547309	0.15389	0	0.59522	0.37078	0	.	.	6.06	-1.18	0.09122	1.928000	0.39734	3.865000	0.40157	-0.662000	0.04349	0.890000	0.31197	0.994000	0.32194	0.286000	0.24163	0.3851:0.5162:0.0:0.0987	12.595	0.55817	550	0.72197	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1054.98	34	chr6	38870503	.	C	T	1054.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.490e-01;DP=825;ExcessHet=0.0000;FS=0.675;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.72;ReadPosRankSum=-1.230e-01;SOR=0.610	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1093	20	0	1	0
chr6	38870507	38870507	A	G	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon48:c.A6284G:p.Q2095R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.026	B	0.022	B	0.000	D	1.000	D	2.015	M	2.28	T	-1.073	T	0.025	T	0.846	2.439	14.11	6.06	2.324	8.875	15.180	0.207	0.00994575803709	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	0.0005	5.5e-07	1.5e-07	0.0001	7.541e-05	0	0	0	0	0	0.0005	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.23813	T	.	.	.	0.026	0.19406	B	0.022	0.19653	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.555	0.39373	L	2.28	0.17271	T	-2.55	0.55181	D	0.604	0.68082	-1.0726	0.08851	T	0.025	0.10910	T	10	0.41469577	0.56461	T	0.009946	0.25901	T	0.207	0.49555	0.362	0.36711	0.331365685468	0.32749	0.7279065716836188	0.72734	0.136091878799	0.15346	0.436637997627	0.30117	T	0.03541	0.23707	T	0.113509	0.65713	D	-0.0747288	0.65288	T	0.804936110973358	0.46692	D	0.648035	0.25918	T	0.32781205	0.55291	0.23975126	0.49332	0.32781205	0.55291	0.23975126	0.49331	-10.423	0.76403	D	.	.	0.176	0.38498	B	.;.;.	.;.;.	2.456024	0.31631	18.80	0.98521906109391877	0.42471	0.99777	0.99392	D	AEFBI	0.931843	0.92129	D	0.0729878767430399	0.45206	2.781007	0.226833492481338	0.51341	3.317536	0.999992484922045	0.74766	0.625279	0.40028	0	0.588015	0.36545	0	0.547309	0.15389	0	0.59522	0.37078	0	.	.	6.06	6.06	0.98340	9.098000	0.93552	11.180000	0.88279	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.549000	0.30150	1.0:0.0:0.0:0.0	15.180	0.72635	550	0.72197	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	527.98	34	chr6	38870507	.	A	G	527.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=750;ExcessHet=0.0000;FS=1.192;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.00;ReadPosRankSum=0.495;SOR=0.973	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1093	20	0	1	0
chr6	38926054	38926054	G	A	splicing	DNAH8	NM_001206927:exon74:c.10963-1G>A;NM_001371:exon73:c.10312-1G>A	.	.	.	YES	.	.	.	.	.	.	.	1.0000	0.938	560845	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.338	22.8	5.86	2.776	8.249	18.380	.	.	0.0002	.	3.304e-05	0	0	0	0	4.504e-05	0	6.124e-05	2.59e-05	4	154602	rs376903331	1.369e-05	1.437e-05	1.226e-05	1.514e-05	1.62e-05	8.94e-06	7.27e-06	1.012e-05	8.35e-06	0	0	0	0	0	0	1.62e-05	1.657e-05	1.164e-05	2.63e-05	2.627e-05	1.286e-05	4.038e-05	4.411e-05	8.15e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361263	0.87354	D	0.381783	0.91494	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.407365	0.90527	31	0.99535213927278687	0.70150	0.99587	0.97729	D	AEFBI	.	.	.	1.23872259916876	0.99826	27.81456	1.10626868635484	0.99825	27.79444	0.999998815652887	0.74766	0.074636	0.01641	0	0.084543	0.02171	0	0.091713	0.02954	0	0.058706	0.01089	0	0.985854	0.93717	5.86	5.86	0.93936	4.710000	0.61563	11.703000	0.94531	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.380	0.90392	648	0.63242	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	611.98	33	chr6	38926054	.	G	A	611.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.13;DP=749;ExcessHet=0.0000;FS=2.464;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.00;ReadPosRankSum=1.00;SOR=1.101	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1399	20	0	1	0
chr6	39310919	39310921	AAG	-	exonic	KCNK17	.	nonframeshift deletion	KCNK17:NM_001135111:exon2:c.324_326del:p.F109del	.	.	431	1082	8	1	0	10	0.00459982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0059	0.00319489	0.0061	0.0012	0.0013	0	0.0039	0.0068	0.0068	0.0147	0.00073	19	26028	rs540653476	0.0072	0.0073	0.0070	0.0075	0.0155	0.0071	0.0071	0.0148	0.0146	0.0010	0.0021	0.0050	2.534e-05	0.0043	0.0068	0.0075	0.0071	0.0155	0.0044	0.0044	0.0042	0.0046	0.0126	0.0041	0.0040	0.0100	0.0091	0.0010	0	0.0048	0.0040	0.0002	0.0044	0.0136	0.0060	0.0038	0.0126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	929.94	36	chr6	39310918	.	AAAG	A	929.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=807;ExcessHet=0.0000;FS=0.890;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=1.22;SOR=0.852	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1090	20	0	1	0
chr6	39314140	39314140	C	T	exonic	KCNK17	.	nonsynonymous SNV	KCNK17:NM_001135111:exon1:c.G181A:p.E61K	.	.	414	1103	5	0	0	5	0.00226142	.	.	699576	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.75	T	0.013	B	0.008	B	0.976	N	1.000	N	0.55	N	0.63	T	-0.983	T	0.026	T	0.214	0.685	7.661	1.51	0.393	0.685	7.971	0.027	.	0.0036	0.00219649	0.0078	0.0003	0.0040	0	0.0325	0.0122	0.0201	0.0008	0.0039197	606	154602	rs61748648	0.0050	0.0051	0.0051	0.0049	0.0051	0.0049	0.0049	0.0050	0.0050	0.0007	0.0031	0.0066	0	0.0196	0.0033	0.0051	0.0045	0.0003	0.0054	0.0054	0.0049	0.0058	0.0062	0.0051	0.0049	0.0057	0.0055	0.0011	0	0.0057	0.0066	0	0.0209	0.0170	0.0062	0.0052	0.0006	0.716	0.07211	T	0.899	0.05380	T	0.004	0.12183	B	0.007	0.12992	B	0.975793	0.07808	N	1.014040	0.99998	0.18612	N	1.39	0.34934	L	0.63	0.53088	T	-0.23	0.10656	N	0.074	0.04790	-0.9827	0.34375	T	0.026	0.11043	T	10	0.007459402	0.00169	T	.	.	.	0.027	0.05988	.	.	0.556183318313	0.55277	0.48916102533944705	0.48836	0.254042563834	0.27974	0.369607567787	0.20775	T	0.017243	0.14102	T	-0.525057	0.00411	T	-0.523956	0.19894	T	0.0105835244960174	0.00148	T	0.654235	0.26451	T	0.037370075	0.04777	0.0457755	0.06235	0.042514	0.06460	0.056164466	0.09985	-5.512	0.41980	T	0.14831022234658806	0.17257	0.116	0.26200	B	.;.	.;.	2.297866	0.29402	18.11	0.96194237010166839	0.29000	0.16684	0.19502	N	AEFDBHI	0.118407	0.23154	N	-0.8156591087898	0.12910	0.6324215	-0.733883307115456	0.16119	0.8511944	0.99110996248119	0.32374	0.652421	0.48094	0	0.563428	0.19063	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	4.49	1.51	0.22094	0.658000	0.24662	0.712000	0.20944	0.596000	0.33519	0.265000	0.24998	0.183000	0.23436	0.991000	0.66497	0.0:0.6024:0.3065:0.091	7.971	0.29291	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1215.98	36	chr6	39314140	.	C	T	1215.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.880e-01;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.13;ReadPosRankSum=-7.770e-01;SOR=0.709	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,114,1272	20	0	1	0
chr6	39864488	39864488	G	A	exonic	DAAM2	.	nonsynonymous SNV	DAAM2:NM_001201427:exon4:c.G314A:p.R105H	.	.	357	1160	2	0	3	5	0.000861326	.	.	3210156	DAAM2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.883	P	0.000	D	1.000	D	2.095	M	-2.5	D	0.528	D	0.716	D	0.52	4.509	24.2	5.89	2.793	3.593	12.369	0.588	.	0.0046	0.00499201	0.0019	0.0165	0.0017	0	0	0.0009	0.0027	0	0.0016623	257	154602	rs6919807	0.0008	0.0008	0.0009	0.0008	0.0168	0.0008	0.0008	0.0157	0.0152	0.0168	0.0019	0.0093	0	1.875e-05	0.0024	0.0002	0.0019	5.824e-05	0.0046	0.0046	0.0049	0.0043	0.0146	0.0043	0.0042	0.0137	0.0133	0.0146	0	0.0025	0.0092	0	0	0	0.0003	0.0028	0	0.004	0.65419	D	0.023	0.57104	D	0.997	0.70673	D	0.883	0.62698	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.845	0.48678	L	-2.5	0.89219	D	-2.91	0.60982	D	0.52	0.62950	0.528	0.90935	D	0.716	0.90246	D	10	0.0097029805	0.00218	T	.	.	.	0.588	0.83526	.	.	0.744706209843	0.74241	0.6111600656085132	0.61048	0.716970076238	0.62024	0.443219542503	0.31017	T	0.247985	0.94636	T	-0.224075	0.17439	T	-0.0816716	0.64780	T	0.0343484367112076	0.02698	T	0.927007	0.73102	D	0.3475434	0.56875	0.22364166	0.47249	0.3475434	0.56876	0.22364166	0.47248	-9.084	0.68235	D	.	.	0.238	0.48303	B	.;.;.;.	.;.;.;.	5.488373	0.91455	32	0.99943015884002429	0.99848	0.91417	0.53491	D	AEFDBI	0.527504	0.54942	D	0.698788168989556	0.79552	7.101965	0.70569188942867	0.82810	7.860454	0.99999925174444	0.74766	0.559995	0.30671	0	0.573888	0.26702	0	0.527494	0.11647	0	0.542086	0.14980	0	.	.	5.89	5.89	0.94758	4.291000	0.58817	9.989000	0.82972	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0777:0.0:0.9223:0.0	12.369	0.54571	651	0.62880	Formin, GTPase-binding domain|Rho GTPase-binding/formin homology 3 (GBD/FH3) domain|Formin, GTPase-binding domain;Formin, GTPase-binding domain|Rho GTPase-binding/formin homology 3 (GBD/FH3) domain|Formin, GTPase-binding domain;.;Formin, GTPase-binding domain|Rho GTPase-binding/formin homology 3 (GBD/FH3) domain|Formin, GTPase-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	860.98	38	chr6	39864488	.	G	A	860.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.593;DP=834;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.57;ReadPosRankSum=-1.376e+00;SOR=0.620	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1575	20	0	1	0
chr6	39879350	39879350	C	T	exonic	DAAM2	.	nonsynonymous SNV	DAAM2:NM_001201427:exon14:c.C1718T:p.P573L	.	.	409	1096	16	1	0	18	0.0081448	.	.	699578	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.13	T	0.015	B	0.016	B	0.000	D	1.000	D	0	N	0.86	T	-1.087	T	0.035	T	0.747	2.218	13.37	4.63	2.383	5.773	10.864	0.272	.	.	0.00459265	0.0034	0.0006	0.0019	0.0106	0	0.0001	0.0059	0.0182	0.0028978	448	154602	rs199956358	0.0015	0.0015	0.0011	0.0019	0.0168	0.0014	0.0014	0.0161	0.0158	0.0002	0.0011	3.847e-05	0.0071	0	0.0023	7.294e-05	0.0045	0.0168	0.0012	0.0012	0.0008	0.0015	0.0158	0.0010	0.0010	0.0129	0.0119	0.0007	0	0.0005	0	0.0118	0	0	5.881e-05	0.0005	0.0158	0.005	0.63226	D	0.003	0.79402	D	0.009	0.15093	B	0.007	0.12992	B	0.000459	0.44317	D	0.194831	1	0.81001	D	0.975	0.24501	L	0.86	0.46777	T	-4.21	0.75776	D	0.582	0.68516	-1.0873	0.05995	T	0.035	0.15247	T	10	0.008737445	0.00198	T	.	.	.	0.272	0.58758	.	.	0.707499504505	0.70495	0.29680205181803404	0.29593	0.172399373927	0.19416	0.639637470245	0.58512	T	0.118516	0.59213	T	-0.275222	0.11180	T	-0.152518	0.59019	T	0.0833992851514409	0.10417	T	0.794521	0.43681	T	0.17288756	0.38005	0.18540746	0.41651	0.17288756	0.38005	0.18540746	0.41651	-6.662	0.51523	T	.	.	0.104	0.18787	B	.;.;.;.	.;.;.;.	4.177147	0.62853	24.5	0.99677472132365275	0.79043	0.98119	0.79760	D	AEFDBI	0.803731	0.72879	D	-0.247381216631754	0.31208	1.747624	-0.0847487457528862	0.36019	2.090972	0.99999999989969	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.63	4.63	0.57175	7.792000	0.84405	7.533000	0.59948	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.045000	0.14751	0.0:0.9126:0.0:0.0874	10.864	0.46054	665	0.61472	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1184.98	36	chr6	39879350	.	C	T	1184.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.801;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=-5.300e-02;SOR=0.614	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1080	20	0	1	0
chr6	39906581	39906581	G	C	exonic	MOCS1	.	nonsynonymous SNV	MOCS1:NM_001358529:exon10:c.C1639G:p.Q547E	Molybdenum cofactor deficiency A, Autosomal recessive	.	1	1510	10	1	0	12	0.00395778	.	.	307425	not_provided|Sulfite_oxidase_deficiency_due_to_molybdenum_cofactor_deficiency_type_A|Combined_molybdoflavoprotein_enzyme_deficiency	MedGen:C3661900|MONDO:MONDO:0009643,MedGen:C1854988,OMIM:252150,Orphanet:308386,Orphanet:833|Human_Phenotype_Ontology:HP:0003570,MONDO:MONDO:0020480,MedGen:C0268119,OMIM:PS252150,Orphanet:833,Orphanet:99732	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.002	B	0.002	B	0.076	N	1.000	N	.	.	1.73	T	-0.970	T	0.009	T	0.12	-1.873	0.008	4.37	2.458	1.353	10.361	0.112	0.00977788782816	.	.	5.835e-05	0	0	0	0	7.608e-05	0	0.0001	4.53e-05	7	154602	rs777476892	6.5e-05	6.498e-05	6.264e-05	6.739e-05	0.0005	5.429e-05	5.043e-05	0.0001	7.555e-05	0	0	0	0	0	0.0005	7.194e-05	6.624e-05	9.275e-05	5.254e-05	5.253e-05	2.568e-05	8.066e-05	0.0002	2.556e-05	1.829e-05	4.764e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.075959	0.21192	N	0.502530	1	0.08975	N	-1.42	0.00581	N	1.72	0.26588	T	-0.2	0.10136	N	0.093	0.07262	-0.9701	0.37179	T	0.009	0.03227	T	9	0.09937081	0.18029	T	0.009778	0.25518	T	0.112	0.31546	.	.	0.350088858571	0.34617	0.21416255598992764	0.21332	.	.	0.342003196478	0.16738	T	0.086988	0.37845	T	-0.406601	0.02094	T	-0.629495	0.10453	T	0.0431905718997352	0.04273	T	0.858914	0.54988	D	0.05395961	0.10287	0.06651647	0.13637	0.05395961	0.10286	0.06651647	0.13636	-5.886	0.45316	T	0.07084530719593814	0.02770	0.075	0.05447	B	.;.	.;.	1.241804	0.16376	12.50	0.59307304620485624	0.06194	0.17178	0.19723	N	AEFDGBI	0.136288	0.25690	N	-0.469270861407401	0.23093	1.237637	-0.335940380307109	0.26948	1.491957	0.99781180461726	0.36062	0.719381	0.83141	0	0.588066	0.40923	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	5.28	4.37	0.51830	1.388000	0.34048	3.951000	0.40674	0.676000	0.76740	0.427000	0.26385	1.000000	0.68203	0.367000	0.26044	0.0:0.3321:0.543:0.1249	10.361	0.43174	851	0.35303	.;Molybdopterin cofactor biosynthesis C (MoaC) domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1176.98	34	chr6	39906581	.	G	C	1176.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.774e+00;DP=854;ExcessHet=0.0000;FS=0.906;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.01;ReadPosRankSum=-3.900e-01;SOR=0.521	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1337	20	0	1	0
chr6	41031715	41031715	T	C	exonic	UNC5CL	.	nonsynonymous SNV	UNC5CL:NM_173561:exon6:c.A1085G:p.N362S,	.	.	399	1118	5	0	0	5	0.00223115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.0	B	0.001	B	0.003	N	0.559	D	0.695	N	2.54	T	-0.944	T	0.008	T	0.131	0.180	4.971	3.34	0.770	0.406	6.763	0.027	.	0.0015	0.00938498	0.0054	9.61e-05	0.0021	0.0009	0	0.0017	0.0099	0.0302	0.0049417	764	154602	rs145811250	0.0036	0.0036	0.0029	0.0044	0.0296	0.0035	0.0035	0.0286	0.0282	0.0006	0.0032	0.0011	0.0035	0.0002	0.0033	0.0019	0.0041	0.0296	0.0029	0.0029	0.0022	0.0037	0.0301	0.0027	0.0026	0.0261	0.0246	0.0006	0	0.0075	0.0014	0.0017	9.43e-05	0.0102	0.0019	0.0043	0.0301	0.629	0.05167	T	0.45	0.12957	T	0.0	0.02946	B	0.001	0.04355	B	0.002565	0.36316	N	0.124350	0.558932	0.32196	D	1.95	0.52479	M	2.54	0.13916	T	-0.27	0.11366	N	0.364	0.40565	-0.9438	0.42009	T	0.008	0.02679	T	10	0.0041496456	0.00082	T	.	.	.	0.027	0.05988	.	.	0.263140351381	0.25927	0.3104686467559726	0.30959	0.0967241480194	0.10917	0.434845983982	0.29872	T	0.004928	0.04354	T	-0.658277	0.00064	T	-0.696033	0.06045	T	0.00391192859409354	0.00041	T	0.723028	0.33655	T	0.036393862	0.04468	0.040935535	0.04540	0.036393862	0.04468	0.040935535	0.04539	-2.123	0.03684	T	.	.	0.069	0.03128	B	.;.	.;.	1.951457	0.24787	16.53	0.82207439844384111	0.14073	0.55062	0.29770	D	AEFDBI	0.177899	0.30516	N	-0.46693635199684	0.23169	1.242357	-0.30524120073425	0.27929	1.553338	0.998329372283581	0.36758	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	4.52	3.34	0.37357	0.400000	0.20657	1.472000	0.26760	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.1071:0.0:0.8929	6.763	0.22735	451	0.79296	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	3065.66	84	chr6	41031715	.	T	C	3065.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-7.460e-01;DP=820;ExcessHet=0.0000;FS=1.296;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=18.36;ReadPosRankSum=0.275;SOR=0.586	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1205	19	1	1	0
chr6	41033109	41033109	C	T	exonic	UNC5CL	.	nonsynonymous SNV	UNC5CL:NM_173561:exon4:c.G724A:p.E242K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	T	0.025	B	0.003	B	0.526	N	1.000	N	0.345	N	2.55	T	-0.963	T	0.006	T	0.239	-1.260	0.048	2.73	0.274	1.031	7.275	0.034	0.00392198019231	.	.	8.795e-05	0.0001	0.0004	0	0	3.482e-05	0	0.0001	5.82e-05	9	154602	rs773255844	3.15e-05	3.215e-05	2.997e-05	3.304e-05	0.0003	2.415e-05	2.16e-05	0.0002	0.0002	2.989e-05	0.0003	0	0	0	0.0002	1.35e-05	1.659e-05	0.0002	1.314e-05	1.313e-05	0	2.689e-05	0.0002	2.18e-06	8.2e-07	.	.	2.411e-05	0	0	0	0	0	0	0	0	0.0002	0.895	0.02454	T	0.791	0.04181	T	0.025	0.19245	B	0.003	0.08700	B	0.526352	0.05231	N	1.324110	1	0.08975	N	1.5	0.37844	L	2.55	0.13795	T	-0.07	0.08033	N	0.382	0.42345	-0.9626	0.38684	T	0.006	0.01944	T	10	0.0487386	0.04365	T	0.003922	0.09242	T	0.034	0.08419	0.412	0.44887	0.215109475489	0.21095	0.33316024061081917	0.33229	0.145030752052	0.16392	0.407984286547	0.26177	T	0.002064	0.01471	T	-0.493357	0.00623	T	-0.624483	0.10836	T	0.0106901718769807	0.00150	T	0.727827	0.34232	T	0.03820988	0.05047	0.04286184	0.05203	0.03820988	0.05047	0.04286184	0.05203	-3.644	0.18495	T	.	.	0.090	0.12797	B	.;.	.;.	0.619934	0.09883	6.644	0.48741383082939466	0.04093	0.02769	0.07467	N	AEFDBI	0.056574	0.10468	N	-1.19365718394303	0.05095	0.2314886	-1.14300054630357	0.06894	0.3334347	0.999423208026873	0.39630	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.49	2.73	0.31266	1.062000	0.30164	1.684000	0.28029	-0.182000	0.10109	0.008000	0.17931	0.052000	0.21854	0.000000	0.00833	0.0:0.7184:0.0:0.2816	7.275	0.25451	452	0.79239	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1364.98	33	chr6	41033109	.	C	T	1364.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.940e-01;DP=786;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.38;ReadPosRankSum=1.79;SOR=0.636	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1144	20	0	1	0
chr6	41034129	41034129	G	T	exonic	UNC5CL	.	nonsynonymous SNV	UNC5CL:NM_173561:exon3:c.C438A:p.D146E,	.	.	408	1089	23	2	0	27	0.0122449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.756	P	0.678	P	0.000	D	1.000	D	1.14	L	1.05	T	-1.092	T	0.065	T	0.494	2.493	14.30	3.91	1.231	1.711	9.162	0.105	.	0.0065	0.00499201	0.0086	0.0022	0.0040	0.0018	0.0055	0.0109	0.0104	0.0114	0.0081629	1262	154602	rs147669667	0.0096	0.0096	0.0094	0.0098	0.0120	0.0095	0.0094	0.0112	0.0110	0.0011	0.0054	0.0030	0.0020	0.0049	0.0120	0.0105	0.0090	0.0118	0.0067	0.0067	0.0067	0.0067	0.0112	0.0063	0.0062	0.0094	0.0091	0.0015	0.0219	0.0064	0.0043	0.0019	0.0048	0.0068	0.0100	0.0128	0.0112	0.28	0.15509	T	0.165	0.30926	T	0.756	0.43409	P	0.678	0.53406	P	0.000043	0.53742	D	0.000000	0.80733	0.29043	N	1.32	0.33002	L	1.05	0.39990	T	-0.68	0.19509	N	0.624	0.63883	-1.0917	0.05254	T	0.065	0.26702	T	10	0.010130048	0.00227	T	.	.	.	0.105	0.29889	0.448	0.50793	0.444505407614	0.44072	0.32841712452372535	0.32754	0.55956992757	0.52493	0.606204330921	0.53781	T	0.009612	0.08738	T	-0.43467	0.01390	T	-0.386762	0.34931	T	0.049045115221159	0.05331	T	0.69513	0.30474	T	0.14271234	0.32830	0.1266743	0.30504	0.14271234	0.32830	0.1266743	0.30503	-6.381	0.49361	T	.	.	0.646	0.74223	P	.;.	.;.	2.804785	0.36903	20.4	0.99652718392113959	0.77380	0.75210	0.36814	D	AEFDBI	0.343576	0.43934	N	0.117645046854027	0.47287	2.956471	0.146321850026763	0.46946	2.932529	0.999932144858726	0.46732	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.78	3.91	0.44383	1.751000	0.37967	2.856000	0.35172	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.0996:0.0:0.9004:0.0	9.162	0.36191	454	0.79125	ZU5 domain|ZU5 domain|ZU5 domain;ZU5 domain|ZU5 domain|ZU5 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3281.11	37	chr6	41034129	.	G	T	3281.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.85;DP=952;ExcessHet=0.1072;FS=1.490;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=0.231;SOR=0.803	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1369	19	0	2	0
chr6	41043154	41043154	G	A	exonic	TSPO2	.	nonsynonymous SNV	TSPO2:NM_001010873:exon2:c.G169A:p.V57M	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.007	B	0.002	B	0.000	N	1.000	N	-2.27	N	1.27	T	-0.923	T	0.005	T	0.087	-1.201	0.072	1.99	0.237	1.878	3.183	0.053	0.00298635779383	.	0.000199681	8.529e-05	0	0	0	0	0	0	0.0007	7.12e-05	11	154602	rs536475290	4.185e-05	4.173e-05	1.365e-05	7.036e-05	0.0006	3.32e-05	3.01e-05	0.0005	0.0004	0	0	0	0	1.878e-05	0.0002	4.506e-06	1.661e-05	0.0006	4.598e-05	4.594e-05	1.285e-05	8.06e-05	0.0012	2.108e-05	1.526e-05	0.0005	0.0004	2.407e-05	0	0	0	0	0	0	0	0	0.0012	1.0	0.12878	T	1.0	0.18071	T	0.007	0.14184	B	0.002	0.06944	B	0.000460	0.44317	N	0.277683	0.999997	0.08975	N	-2.325	0.00090	N	1.27	0.36146	T	2.87	0.01064	N	0.15	0.17002	-0.9230	0.45141	T	0.005	0.01542	T	10	0.030102015	0.01137	T	0.002986	0.06369	T	0.053	0.14996	0.528	0.63412	0.193865811164	0.18958	0.4323634816072549	0.43153	0.266572533615	0.29199	0.254671752453	0.04276	T	0.014975	0.12647	T	-0.522073	0.00428	T	-0.663755	0.08015	T	0.0263523398712329	0.01454	T	0.506149	0.23263	T	0.019593501	0.00493	0.046416182	0.06463	0.019593501	0.00492	0.046416182	0.06463	-1.127	0.30055	T	.	.	0.121	0.27433	B	.;.;.	.;.;.	-0.124243	0.03499	0.659	0.6365032876113933	0.07280	0.01032	0.03867	N	AEFDCI	0.034512	0.04287	N	-1.37253837567368	0.02898	0.1286499	-1.23061192269391	0.05425	0.2584318	0.998942005090964	0.38034	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.631631	0.49550	0	.	.	4.42	1.99	0.25423	1.528000	0.35592	0.187000	0.15699	-0.116000	0.14526	0.060000	0.21767	0.000000	0.08366	0.035000	0.13729	0.6778:0.0:0.1167:0.2054	3.183	0.06198	468	0.78227	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1039.98	33	chr6	41043154	.	G	A	1039.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.780e-01;DP=791;ExcessHet=0.0000;FS=0.822;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=1.38;SOR=0.593	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1159	20	0	1	0
chr6	41043636	41043636	G	C	exonic	TSPO2	.	nonsynonymous SNV	TSPO2:NM_001010873:exon3:c.G253C:p.V85L	.	.	420	1092	9	1	0	11	0.00501139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.0	B	0.001	B	0.069	N	1.000	N	1.01	L	1.03	T	-1.085	T	0.019	T	0.102	-0.854	0.541	-3.3	-0.641	-0.061	0.638	0.090	0.00234297893453	0.0017	0.00179712	0.0020	0.0015	0.0027	0	0.0003	0.0021	0.0045	0.0033	0.0019922	308	154602	rs147485285	0.0023	0.0023	0.0023	0.0024	0.0038	0.0023	0.0023	0.0035	0.0033	0.0007	0.0025	0.0010	0	0.0002	0.0038	0.0025	0.0025	0.0038	0.0017	0.0017	0.0017	0.0018	0.0031	0.0016	0.0015	0.0025	0.0024	0.0007	0	0.0014	0.0006	0	0.0002	0.0102	0.0028	0.0014	0.0031	0.898	0.02436	T	0.703	0.05663	T	0.0	0.02946	B	0.001	0.04355	B	0.069162	0.02229	N	1.955430	1	0.08975	N	1.15	0.29295	L	1.03	0.40469	T	-0.85	0.23156	N	0.106	0.09772	-1.0850	0.06407	T	0.019	0.07893	T	10	0.0064745545	0.00147	T	0.002343	0.04535	T	0.090	0.26093	.	.	0.166414681773	0.16258	0.2332732126691424	0.23242	0.259490706141	0.28504	0.294637024403	0.09603	T	0.012599	0.11043	T	-0.644177	0.00079	T	-0.700828	0.05781	T	0.033278826624155	0.02518	T	0.523548	0.17131	T	0.0381984	0.05044	0.046442296	0.06473	0.0381984	0.05044	0.046442296	0.06473	-2.839	0.08548	T	.	.	0.109	0.25914	B	.;.	.;.	0.374296	0.07463	4.102	0.74768250829263816	0.10819	0.04048	0.09492	N	AEFDI	0.101413	0.20368	N	-1.37152377689438	0.02908	0.129119	-1.37605386298669	0.03509	0.1638203	0.999661792004702	0.41534	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.71	-3.3	0.04692	0.086000	0.14780	1.033000	0.23495	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.954000	0.50415	0.3381:0.2841:0.1921:0.1857	0.638	0.00754	469	0.78175	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1042.98	36	chr6	41043636	.	G	C	1042.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.400e-01;DP=799;ExcessHet=0.0000;FS=4.058;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=-5.690e-01;SOR=0.998	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr6	41070093	41070093	G	A	exonic	OARD1	.	stopgain	OARD1:NM_001329688:exon3:c.C226T:p.R76X	.	.	447	1057	16	2	0	20	0.00937207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	4.890	28.1	3.93	1.464	2.398	12.645	.	.	0.0022	0.00159744	0.0032	9.681e-05	0.0012	0	0.0059	0.0030	0.0044	0.0073	0.0028719	444	154602	rs144679838	0.0024	0.0026	0.0022	0.0027	0.0067	0.0024	0.0023	0.0062	0.0060	0.0006	0.0009	0.0017	7.586e-05	0.0052	0.0049	0.0022	0.0021	0.0067	0.0020	0.0020	0.0019	0.0021	0.0037	0.0018	0.0017	0.0024	0.0021	0.0003	0	0.0012	0.0035	0.0002	0.0055	0.0068	0.0026	0.0014	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	0.000001	0.62929	D	0.057970	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.425	0.46928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258468	0.79388	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.;.;Recessive;.;Recessive;.;.	High;High;.;.;High;.;High;.;.	10.088343	0.99560	45	0.99597497596093676	0.73983	0.92099	0.54942	D	AEFBI	0.063135	0.12179	N	0.713788439934516	0.80536	7.31595	0.580133238804633	0.73515	5.983354	0.999977607773736	0.50053	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.91	3.93	0.44666	2.498000	0.45023	8.042000	0.76319	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.6544:0.3456	12.645	0.56089	478	0.77585	Macro domain|Macro domain|Macro domain;Macro domain|Macro domain|Macro domain;Macro domain;Macro domain;Macro domain|Macro domain|Macro domain;Macro domain;Macro domain|Macro domain|Macro domain;Macro domain|Macro domain;Macro domain|Macro domain|Macro domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1244.98	42	chr6	41070093	.	G	A	1244.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.16;DP=884;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.64;ReadPosRankSum=0.159;SOR=0.746	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr6	41150262	41150262	A	G	exonic	TREML1	.	nonsynonymous SNV	TREML1:NM_001271808:exon4:c.T287C:p.M96T	.	.	431	1079	12	0	0	12	0.00552995	0.0008	0.104	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.003	B	0.001	B	0.564	N	1.000	N	0.255	N	0.93	T	-1.054	T	0.013	T	0.309	2.496	14.31	-8.03	-1.302	-1.523	4.361	0.052	.	0.0017	0.0167732	0.0102	0.0002	0.0024	0.0015	0	0.0017	0.0113	0.0646	0.0089261	1380	154602	rs35929443	0.0056	0.0056	0.0040	0.0073	0.0623	0.0055	0.0055	0.0609	0.0603	0.0007	0.0031	0.0011	0.0035	0.0002	0.0036	0.0019	0.0069	0.0623	0.0038	0.0038	0.0026	0.0051	0.0597	0.0036	0.0035	0.0540	0.0518	0.0007	0	0.0073	0.0014	0.0027	9.432e-05	0.0102	0.0019	0.0033	0.0597	0.296	0.14694	T	0.257	0.23433	T	0.002	0.11197	B	0.001	0.04355	B	0.563607	0.05438	N	1.213370	0.99974	0.48716	D	0.755	0.19153	N	1.83	0.44065	T	-2.63	0.56466	D	0.028	0.04790	-1.0540	0.13305	T	0.013	0.04938	T	10	0.0016866624	0.00021	T	.	.	.	0.052	0.14661	.	.	0.199424873507	0.19547	0.1706216434997013	0.16982	0.0668708633351	0.07459	0.316066741943	0.12826	T	0.046399	0.27413	T	-0.614411	0.00119	T	-0.608221	0.12129	T	0.0103992810647978	0.00143	T	0.50065	0.15660	T	0.060711063	0.12491	0.09030898	0.21169	0.060711063	0.12490	0.09030898	0.21168	-1.586	0.01949	T	.	.	0.1	0.33527	B	.;.	.;.	-0.522980	0.01794	0.139	0.71087936438850141	0.09511	0.00732	0.03068	N	AEFBI	0.058129	0.10882	N	-1.35796003634285	0.03043	0.1353332	-1.38206261642845	0.03443	0.1606118	0.99568561193967	0.34265	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.42	-8.03	0.00984	-1.517000	0.02351	-5.389000	0.01737	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.2942:0.1241:0.4608:0.121	4.361	0.10638	638	0.64280	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4637.66	105	chr6	41150262	.	A	G	4637.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-9.630e-01;DP=895;ExcessHet=0.0000;FS=9.537;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=20.98;ReadPosRankSum=-7.500e-02;SOR=0.704	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1302	19	1	1	0
chr6	41151372	41151374	TCT	-	exonic	TREML1	.	nonframeshift deletion	TREML1:NM_001271808:exon2:c.54_56del:p.E19del	.	.	417	1093	12	0	0	12	0.00545951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.0169728	0.0099	0.0002	0.0023	0.0014	0	0.0018	0.0110	0.0622	0.0009221	24	26028	rs139027309	0.0056	0.0056	0.0040	0.0072	0.0609	0.0055	0.0054	0.0596	0.0590	0.0007	0.0031	0.0011	0.0035	0.0002	0.0036	0.0019	0.0069	0.0609	0.0038	0.0038	0.0026	0.0052	0.0596	0.0036	0.0035	0.0540	0.0518	0.0007	0	0.0073	0.0014	0.0029	9.422e-05	0.0102	0.0018	0.0033	0.0596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4625.62	67	chr6	41151371	.	CTCT	C	4625.62	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.605;DP=826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=31.25;ReadPosRankSum=-6.530e-01;SOR=0.737	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1040	19	1	1	0
chr6	41192476	41192476	C	T	exonic	TREML2	.	nonsynonymous SNV	TREML2:NM_024807:exon5:c.G917A:p.R306H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.606	P	0.064	B	0.154	N	1.000	N	1.5	L	2.81	T	-0.978	T	0.006	T	0.088	1.656	11.50	-5.84	-1.311	-0.666	5.603	0.029	0.00170969526914	.	0.00139776	0.0006	0	8.922e-05	0	0	1.527e-05	0	0.0040	0.0004916	76	154602	rs541887130	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0029	0.0028	0	0	0	2.519e-05	0	0	7.195e-06	0.0003	0.0032	0.0001	0.0001	8.994e-05	0.0002	0.0039	9.739e-05	8.254e-05	0.0026	0.0021	2.407e-05	0	6.534e-05	0	0	0	0	1.47e-05	0	0.0039	0.25	0.17126	T	0.211	0.26631	T	0.606	0.39465	P	0.064	0.27215	B	0.154234	0.02987	N	1.720980	1	0.08975	N	1.795	0.47270	L	2.81	0.10975	T	-0.2	0.10136	N	0.106	0.09066	-0.9783	0.35390	T	0.006	0.01981	T	10	0.0033641458	0.00059	T	0.00171	0.02856	T	0.029	0.06676	0.172	0.07774	0.107399877778	0.10242	0.15784726011360609	0.15705	0.47858477225	0.46929	0.242092818022	0.02981	T	0.005371	0.04821	T	-0.657248	0.00065	T	-0.718024	0.04892	T	0.0209775907533637	0.00798	T	0.523848	0.17156	T	0.015177982	0.00126	0.018123839	0.00047	0.015177982	0.00126	0.018123839	0.00047	-4.342	0.28761	T	.	.	0.127	0.27100	B	.	.	0.771529	0.11413	8.025	0.89252613015960325	0.18638	0.02077	0.06181	N	AEFDBCI	0.025127	0.01667	N	-1.22954935844336	0.04577	0.2068315	-1.4100808901355	0.03151	0.1463972	0.997658112461356	0.35867	0.732398	0.92422	0	0.743671	0.97443	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	4.23	-5.84	0.02127	-0.433000	0.07017	-0.570000	0.08431	-0.313000	0.06017	0.002000	0.15269	0.000000	0.08366	0.667000	0.33166	0.2626:0.1618:0.0:0.5755	5.603	0.16646	900	0.24599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1697.98	33	chr6	41192476	.	C	T	1697.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.087e+00;DP=840;ExcessHet=0.0000;FS=5.008;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=0.262;SOR=0.399	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1268	20	0	1	0
chr6	41565857	41565857	G	A	exonic	FOXP4	.	nonsynonymous SNV	FOXP4:NM_001012426:exon2:c.G97A:p.G33R	.	.	416	1103	3	0	0	3	0.00135808	.	.	3185089	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.46	T	0.027	B	0.004	B	0.474	N	0.882	N	1.1	L	-2.75	D	-0.711	T	0.384	T	0.281	2.069	12.87	4.95	2.291	1.779	10.900	0.196	0.0807603723558	0.0044	0.00139776	0.0036	0.0007	0.0005	0.0002	0.0026	0.0059	0	0.0010	0.0034864	539	154602	rs41273784	0.0041	0.0041	0.0042	0.0039	0.0049	0.0040	0.0039	0.0047	0.0047	0.0009	0.0007	0.0005	5.038e-05	0.0036	0.0028	0.0049	0.0026	0.0011	0.0028	0.0028	0.0032	0.0025	0.0050	0.0026	0.0025	0.0046	0.0044	0.0009	0	0.0010	0.0006	0	0.0030	0	0.0050	0.0019	0.0006	0.376	0.11334	T	0.211	0.26883	T	0.027	0.19556	B	0.004	0.10090	B	0.474140	0.12242	N	0.697253	0.882107	0.28031	N	0.895	0.22405	L	-2.76	0.90904	D	-0.13	0.11547	N	0.135	0.21056	-0.7114	0.59884	T	0.384	0.73958	T	10	0.00581941	0.00130	T	0.08076	0.73532	D	0.196	0.47777	0.273	0.22369	0.500242482652	0.49660	0.1400851319842108	0.13931	0.114460003441	0.12903	0.499404668808	0.38745	T	0.10866	0.42189	T	-0.300637	0.08600	T	-0.200755	0.54574	T	0.0211472406162809	0.00816	T	0.708829	0.31953	T	0.03433621	0.03834	0.058027457	0.10653	0.033882063	0.03695	0.057732303	0.10547	-5.25	0.39734	T	.	.	0.282	0.51515	B	.;.;.;.;.	.;.;.;.;.	2.888914	0.38249	20.7	0.99766738239765551	0.85500	0.95473	0.64861	D	AEFDGBI	0.444006	0.50108	N	-0.214017366736853	0.32557	1.837419	-0.0789031770869767	0.36262	2.108182	0.999999725786244	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.80507	0.99327	0	0.635551	0.53088	0	.	.	4.95	4.95	0.64894	5.176000	0.64865	9.436000	0.80816	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.050000	0.15192	0.0898:0.0:0.9102:0.0	10.900	0.46255	832	0.38914	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1378.98	34	chr6	41565857	.	G	A	1378.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.27;DP=830;ExcessHet=0.0000;FS=6.412;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.39;ReadPosRankSum=2.21;SOR=1.338	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1278	20	0	1	0
chr6	41597932	41597932	T	C	exonic	FOXP4	.	nonsynonymous SNV	FOXP4:NM_001012426:exon16:c.T1877C:p.L626P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.998	D	0.993	D	0.000	D	1.000	D	1.735	L	-2.69	D	0.415	D	0.722	D	0.653	1.762	11.85	3.69	1.677	4.222	12.481	0.608	0.759758119259	.	0.00139776	0.0004	0	0	0	0	0	0	0.0021	0.0001682	26	154602	rs548646802	6.349e-05	6.772e-05	2.824e-05	9.948e-05	0.0010	5.243e-05	4.871e-05	0.0008	0.0008	3.099e-05	0	0	0	0	0	0	0.0001	0.0010	5.3e-05	5.264e-05	6.472e-05	4.071e-05	0.0017	2.576e-05	1.844e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.059	0.37536	T	0.215	0.26386	T	0.997	0.70673	D	0.921	0.65636	D	0.000005	0.62929	D	0.000000	1	0.81001	D	2.045	0.56016	M	-2.69	0.90566	D	-1.38	0.38345	N	0.395	0.49328	0.415	0.89323	D	0.722	0.90478	D	10	0.027106613	0.00863	T	0.759758	0.98092	D	0.608	0.84613	0.245	0.17984	0.684598654009	0.68190	0.8185377706287136	0.81810	0.0228467483956	0.02315	0.767651438713	0.77073	T	0.195483	0.55157	T	-0.113259	0.34232	T	0.0344555	0.72567	D	0.174679048680011	0.18893	T	0.853715	0.60567	D	0.5383835	0.69306	0.3085183	0.56869	0.5383835	0.69307	0.3085183	0.56869	-2.593	0.06526	T	.	.	0.104	0.20078	B	.;.;.;.;.	.;.;.;.;.	4.580093	0.72349	25.8	0.99430659693533385	0.64227	0.93862	0.59406	D	AEFDBCI	0.821588	0.74211	D	0.291042019058073	0.55694	3.733444	0.187759321409972	0.49175	3.123944	0.999999900198705	0.74766	0.741868	0.97996	0	0.643519	0.57511	0	0.774882	0.98623	0	0.683762	0.67416	0	.	.	3.69	3.69	0.41483	3.542000	0.53380	4.951000	0.46281	0.659000	0.54702	1.000000	0.71638	1.000000	0.68203	0.158000	0.20581	0.0:0.0:0.0:1.0	12.481	0.55184	923	0.18507	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	242.99	14	chr6	41597932	.	T	C	242.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.102e+00;DP=472;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0254;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.12;ReadPosRankSum=-8.670e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:81:0,81,1215	20	0	1	0
chr6	41736997	41736997	C	A	exonic	PGC	.	nonsynonymous SNV	PGC:NM_002630:exon9:c.G1022T:p.G341V,	.	.	415	1077	28	2	0	32	0.0146386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.936	P	0.847	P	0.746	N	1.000	N	3.505	H	1.07	T	-0.964	T	0.181	T	0.25	2.624	14.73	-0.397	-0.008	0.307	6.667	0.071	0.0221586271214	0.0005	0.00119808	0.0016	0	0.0003	0.0001	0.0002	0.0007	0.0023	0.0087	0.0013066	202	154602	rs146485859	0.0009	0.0009	0.0007	0.0012	0.0080	0.0009	0.0009	0.0075	0.0073	8.966e-05	0.0004	0.0013	0.0001	9.37e-05	0.0061	0.0005	0.0015	0.0080	0.0007	0.0007	0.0005	0.0008	0.0075	0.0006	0.0005	0.0055	0.0049	0.0002	0	0.0004	0.0023	0.0002	0	0.0068	0.0006	0.0014	0.0075	0.001	0.78490	D	0.078	0.42261	T	0.936	0.52359	P	0.847	0.60522	P	0.746298	0.06458	N	1.119980	0.999995	0.08975	N	3.685	0.94485	H	1.07	0.39586	T	-5.73	0.87611	D	0.418	0.45803	-0.9639	0.38428	T	0.181	0.52889	T	10	0.017688364	0.00379	T	0.022159	0.45019	T	0.071	0.20720	.	.	0.53177700221	0.52827	0.8226655142697801	0.82223	0.458892560868	0.45492	0.305901169777	0.11288	T	0.087464	0.37947	T	-0.459583	0.00989	T	-0.427808	0.30186	T	0.126171198449256	0.15024	T	0.59644	0.22167	T	0.3811278	0.59398	0.4182421	0.65854	0.3811278	0.59398	0.4182421	0.65854	-9.789	0.72638	D	.	.	0.359	0.57142	A	.	.	2.044254	0.25985	16.96	0.98421708193010871	0.41288	0.23523	0.22103	N	AEFDBI	0.215925	0.34123	N	-0.318322445950699	0.28453	1.569451	-0.613910533028169	0.19135	1.025364	0.999942990448201	0.47345	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.564101	0.26826	0	.	.	4.82	-0.397	0.11804	0.696000	0.25220	-1.193000	0.06063	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.603:0.1171:0.28	6.667	0.22237	605	0.67457	Peptidase family A1 domain|Peptidase family A1 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	994.98	34	chr6	41736997	.	C	A	994.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.772;DP=812;ExcessHet=0.0000;FS=1.710;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.58;ReadPosRankSum=1.02;SOR=0.905	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr6	41740500	41740500	C	T	exonic	PGC	.	nonsynonymous SNV	PGC:NM_002630:exon6:c.G758A:p.G253D,	.	.	417	1080	24	1	0	26	0.0118939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.995	D	0.887	P	0.157	N	1.000	N	1.045	L	0.44	T	-0.996	T	0.100	T	0.359	1.138	9.639	2.17	0.229	-0.295	10.399	0.181	.	0.0021	0.00139776	0.0029	0.0004	0.0010	0.0001	0	0.0022	0.0146	0.0112	0.0024967	386	154602	rs146769097	0.0019	0.0019	0.0015	0.0022	0.0105	0.0018	0.0018	0.0099	0.0097	0.0001	0.0007	0.0081	5.078e-05	0	0.0068	0.0013	0.0026	0.0105	0.0014	0.0014	0.0013	0.0014	0.0068	0.0012	0.0012	0.0050	0.0044	0.0003	0	0.0012	0.0095	0	0	0.0034	0.0016	0.0024	0.0068	0.067	0.35918	T	0.61	0.07691	T	0.995	0.67487	D	0.887	0.62952	P	0.156595	0.17795	N	0.572523	1	0.08975	N	0.77	0.19370	N	0.44	0.56609	T	-1.77	0.41809	N	0.297	0.33578	-0.9958	0.31082	T	0.100	0.37290	T	10	0.008054823	0.00183	T	.	.	.	0.181	0.45247	.	.	0.468003879618	0.46428	0.612523108828657	0.61184	0.202384851127	0.22661	0.36427628994	0.20007	T	0.032225	0.22391	T	-0.478077	0.00759	T	-0.451539	0.27528	T	0.0154015321060609	0.00344	T	0.657934	0.26722	T	0.11558035	0.27272	0.12309866	0.29686	0.11558035	0.27272	0.12309866	0.29686	-7.998	0.61057	D	.	.	0.226	0.45750	B	.	.	1.557426	0.19955	14.52	0.98829675087421176	0.46936	0.10204	0.15775	N	AEFBCI	0.122361	0.23747	N	-0.656866268285708	0.17260	0.8866704	-0.79779014470838	0.14549	0.7607732	0.999771066895117	0.42865	0.487112	0.14033	0	0.563428	0.19063	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	5.08	2.17	0.26736	-0.307000	0.08206	-0.457000	0.09062	-0.924000	0.02182	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.4442:0.4811:0.0746	10.399	0.43404	579	0.69780	Peptidase family A1 domain|Peptidase family A1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2029.98	33	chr6	41740500	.	C	T	2029.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.570e-01;DP=883;ExcessHet=0.0000;FS=2.620;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=-4.590e-01;SOR=0.527	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1347	20	0	1	0
chr6	41784992	41784992	G	A	exonic	PRICKLE4	.	nonsynonymous SNV	PRICKLE4:NM_013397:exon5:c.G298A:p.A100T,	.	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.015	B	0.055	B	0.061	N	1.000	N	1.845	L	-2.05	D	-0.664	T	0.358	T	0.148	1.520	11.03	3.6	0.525	1.000	15.605	0.235	0.0428527277133	0.0005	0.000399361	0.0008	0	0.0007	0.0001	0.0003	0.0006	0.0022	0.0027	0.000705	109	154602	rs140175299	0.0007	0.0007	0.0006	0.0008	0.0025	0.0006	0.0006	0.0023	0.0022	2.989e-05	0.0008	0	0	0.0002	0.0014	0.0006	0.0009	0.0025	0.0006	0.0006	0.0006	0.0006	0.0018	0.0005	0.0005	0.0013	0.0011	9.621e-05	0	0.0018	0	0	0	0	0.0007	0.0005	0.0017	0.065	0.36310	T	0.076	0.65728	T	0.015	0.17086	B	0.055	0.25995	B	0.060823	0.22218	N	0.321942	0.821884	0.28872	N	2.28	0.64929	M	-2.05	0.85799	D	-1.71	0.42001	N	0.232	0.28849	-0.6642	0.62091	T	0.358	0.72037	T	10	0.0053378344	0.00117	T	0.042853	0.60682	D	0.235	0.53788	.	.	0.272205846399	0.26826	0.08945990360881802	0.08878	0.886063092977	0.70002	0.375735759735	0.21652	T	0.009525	0.08670	T	-0.372252	0.03482	T	-0.312417	0.43400	T	0.0189760634485866	0.00606	T	0.911409	0.68582	D	0.039847896	0.05579	0.11779564	0.28435	0.039847896	0.05579	0.11779564	0.28434	-6.558	0.56295	T	.	.	0.081	0.11269	B	.;.;.;.;.	.;.;.;.;.	1.635346	0.20874	14.95	0.94293080236992644	0.24596	0.54218	0.29562	D	AEFDBCI	0.113821	0.22443	N	-0.876857934412203	0.11394	0.5496533	-0.778512071176579	0.15022	0.7879534	0.999999682059008	0.74766	0.635344	0.42169	0	0.480063	0.06835	0	0.654045	0.52621	0	0.491896	0.07777	0	.	.	4.47	3.6	0.40374	1.139000	0.31115	5.560000	0.48915	-0.108000	0.15293	0.754000	0.29177	1.000000	0.68203	0.835000	0.39381	0.0:0.0:0.8595:0.1405	15.605	0.76405	451	0.79296	.;PET domain|PET domain;.;.;PET domain|PET domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1419.98	33	chr6	41784992	.	G	A	1419.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.720e-01;DP=803;ExcessHet=0.0000;FS=2.400;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=-2.900e-01;SOR=0.462	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1376	20	0	1	0
chr6	41786275	41786275	C	G	exonic	PRICKLE4	.	nonsynonymous SNV	PRICKLE4:NM_013397:exon7:c.C730G:p.R244G,	.	.	419	1093	10	0	0	10	0.00455373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.98	D	0.851	P	0.000	D	1.000	D	2.155	M	-2.33	D	0.177	D	0.654	D	0.645	3.417	17.55	4.81	2.504	6.729	14.908	0.623	.	0.0009	0.00139776	0.0021	0.0005	0.0007	0.0001	0.0002	0.0011	0.0151	0.0105	0.0017852	276	154602	rs141478229	0.0012	0.0012	0.0010	0.0015	0.0087	0.0012	0.0012	0.0082	0.0080	0.0002	0.0004	0	0.0016	3.776e-05	0.0042	0.0008	0.0015	0.0087	0.0008	0.0008	0.0007	0.0010	0.0072	0.0007	0.0007	0.0054	0.0047	0.0002	0	0.0007	0	0.0004	0	0.0034	0.0009	0.0024	0.0072	0.054	0.38633	T	0.073	0.92824	T	0.98	0.59353	D	0.851	0.60700	P	0.000157	0.49130	D	0.000000	0.997875	0.45339	D	2.95	0.84923	M	-2.33	0.87910	D	-3.78	0.73151	D	0.433	0.49602	0.177	0.85527	D	0.654	0.87943	D	10	0.010054141	0.00225	T	.	.	.	0.623	0.85406	.	.	0.846421303689	0.84494	0.7528875862469561	0.75235	1.28768444248	0.82705	0.457758158445	0.33003	T	0.478297	0.80817	T	-0.143665	0.29307	T	0.0275391	0.72118	D	0.041502370032788	0.03963	T	0.808019	0.46271	T	0.25619984	0.48658	0.21566667	0.46164	0.25619984	0.48658	0.21566667	0.46163	-9.845	0.75218	D	.	.	0.275	0.51959	B	.;.;.;.;.	.;.;.;.;.	4.105868	0.61261	24.3	0.99742598182372644	0.83629	0.97948	0.78351	D	AEFDGBCIJ	0.908582	0.86407	D	0.487249171461984	0.66346	4.938092	0.420087740558971	0.62819	4.503771	0.99999999999999	0.74766	0.652421	0.48094	0	0.484254	0.07192	0	0.64067	0.45733	0	0.71	0.69187	0	.	.	4.81	4.81	0.61401	5.834000	0.69064	4.546000	0.43784	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.163000	0.20749	0.0:1.0:0.0:0.0	14.908	0.70381	455	0.79073	.;Zinc finger, LIM-type|Zinc finger, LIM-type;.;.;Zinc finger, LIM-type|Zinc finger, LIM-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1399.98	38	chr6	41786275	.	C	G	1399.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.990e-01;DP=843;ExcessHet=0.0000;FS=2.403;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=-1.750e-01;SOR=0.481	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1107	20	0	1	0
chr6	41930239	41930239	G	A	exonic	BYSL	.	nonsynonymous SNV	BYSL:NM_004053:exon3:c.G539A:p.R180Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.977	D	0.701	P	0.000	D	1.000	D	2.585	M	0.92	T	-0.720	T	0.157	T	0.402	5.610	36	5.2	1.574	9.757	15.226	0.249	0.0374483503946	0.0009	0.00119808	0.0003	0.0030	0.0002	0	0	0	0.0011	0	0.0002781	43	154602	rs146819393	9.44e-05	9.44e-05	0.0001	7.7e-05	0.0027	8.134e-05	7.65e-05	0.0023	0.0021	0.0027	8.945e-05	0	2.519e-05	0	0	2.968e-05	0.0001	0	0.0009	0.0009	0.0008	0.0010	0.0031	0.0007	0.0007	0.0026	0.0025	0.0031	0	6.537e-05	0	0	0	0	1.47e-05	0.0009	0	0.015	0.52492	D	0.032	0.53426	D	0.977	0.58535	D	0.701	0.54186	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.28	0.64929	M	0.92	0.44461	T	-2.88	0.60507	D	0.817	0.81261	-0.7198	0.59473	T	0.157	0.49010	T	10	0.046075076	0.03754	T	0.037448	0.57621	D	0.249	0.55752	.	.	0.636745445039	0.63376	0.55677566155843	0.55604	1.19922512241	0.80482	0.667373895645	0.62463	T	0.392717	0.75231	T	-0.370132	0.03587	T	-0.306867	0.43995	T	0.135168353943736	0.15852	T	0.973103	0.90315	D	0.72428465	0.79401	0.5390931	0.73363	0.72428465	0.79403	0.5390931	0.73364	-5.825	0.44791	T	.	.	0.369	0.57750	A	.	.	5.936820	0.94117	33	0.99949698044269542	0.99938	0.99286	0.93967	D	AEFBCI	0.911547	0.87098	D	0.778357124032391	0.84735	8.371396	0.771179365113644	0.87729	9.323663	0.999999990218596	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.06	5.2	0.71720	9.882000	0.98512	11.849000	0.98023	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0681:0.0:0.9319:0.0	15.226	0.73043	723	0.55174	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	4030.08	124	chr6	41930239	.	G	A	4030.08	.	AC=2;AF=0.048;AN=42;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.50;SOR=1.445	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1355	20	1	0	0
chr6	42066397	42066397	G	A	exonic	TAF8	.	nonsynonymous SNV	TAF8:NM_138572:exon6:c.G575A:p.R192H,	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.798	P	0.229	B	0.000	D	1.000	D	1.575	L	.	.	-0.903	T	0.129	T	0.832	4.449	23.7	6.16	2.937	9.447	20.455	0.359	0.00862790631822	7.9e-05	.	7.458e-05	0	8.648e-05	0	0	5.998e-05	0	0.0002	5.82e-05	9	154602	rs374759131	4.857e-05	4.857e-05	4.764e-05	4.95e-05	0.0009	3.926e-05	3.604e-05	0.0003	0.0002	0	8.944e-05	0	0	0	0.0009	3.147e-05	0.0001	0.0002	3.282e-05	3.281e-05	1.285e-05	5.37e-05	0.0004	1.26e-05	7.97e-06	7.293e-05	3.03e-05	0	0	0.0001	0	0	0	0	1.47e-05	0	0.0004	0.002	0.72154	D	0.001	0.83351	D	0.574	0.44840	P	0.134	0.38155	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.87	0.21467	L	.	.	.	-4.19	0.75935	D	0.859	0.85766	-0.9028	0.47694	T	0.129	0.43706	T	9	0.5706383	0.65299	D	0.008628	0.22804	T	0.359	0.67962	.	.	0.286848849266	0.28300	0.6144053751322054	0.61372	0.570417275968	0.53198	0.920234322548	0.98342	D	0.648888	0.89321	D	0.102021	0.64510	D	0.209093	0.83615	D	0.190264171704945	0.19860	T	0.947905	0.79907	D	0.7732927	0.82246	0.73847663	0.84542	0.7732927	0.82247	0.73847663	0.84543	-9.639	0.74204	D	.	.	0.965	0.90590	P	.;.;.;.;.	.;.;.;.;.	5.372758	0.90070	31	0.99900663663070788	0.97275	0.99327	0.94549	D	AEFGBHI	0.892692	0.82988	D	0.540677729297287	0.69516	5.368067	0.669723433983833	0.80086	7.22153	0.999999999998743	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	6.16	6.16	0.99302	9.571000	0.97334	11.787000	0.96267	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.0:1.0:0.0	20.455	0.99141	917	0.20147	.;.;.;Transcription factor TFIID, subunit 8, C-terminal|Transcription factor TFIID, subunit 8, C-terminal;Transcription factor TFIID, subunit 8, C-terminal|Transcription factor TFIID, subunit 8, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1032.98	36	chr6	42066397	.	G	A	1032.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.030e-01;DP=794;ExcessHet=0.0000;FS=0.758;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=1.45;SOR=0.842	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr6	42107169	42107169	C	T	exonic	C6orf132	.	nonsynonymous SNV	C6orf132:NM_001164446:exon4:c.G743A:p.R248H,	.	.	432	1085	5	0	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	.	.	.	.	.	.	1.000	N	0	N	0.76	T	-1.005	T	0.019	T	0.09	-0.762	0.783	-7.09	-2.260	-1.633	5.999	0.006	0.00675561262423	.	.	0	0	0	0	0	0	0	0	0.0005379	14	26028	rs755603011	0.0010	0.0009	0.0010	0.0010	0.0019	0.0010	0.0010	0.0011	0.0011	0.0001	0.0009	0.0004	0	6.553e-05	0.0019	0.0012	0.0007	0.0004	0.0008	0.0009	0.0008	0.0009	0.0012	0.0007	0.0007	0.0010	0.0009	0.0003	0	0.0012	0.0006	0.0002	0.0001	0.0035	0.0012	0.0030	0.0005	0.136	0.26085	T	0.143	0.33219	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.315	0.10303	N	0.76	0.49919	T	-1.33	0.33197	N	0.032	0.00825	-1.0048	0.28517	T	0.019	0.08079	T	7	0.016800225	0.00356	T	0.006756	0.17840	T	0.006	0.00375	.	.	0.0138822411134	0.00435	0.06859667622863035	0.06797	.	.	.	.	.	0.050921	0.28731	T	-0.603568	0.00139	T	-0.669839	0.07618	T	0.00702890987105475	0.00080	T	0.384162	0.09403	T	0.024674643	0.01323	0.030097902	0.01424	0.024674643	0.01323	0.030097902	0.01424	-5.106	0.37971	T	.	.	0.079	0.07272	B	.	.	-0.759526	0.01189	0.058	0.65139694243992496	0.07689	0.00628	0.02764	N	AEFDBI	0.037416	0.05142	N	-1.33381318416161	0.03296	0.1469735	-1.54067789956866	0.02040	0.09328102	0.999969972087992	0.48965	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.54	-7.09	0.01399	-1.656000	0.02083	-11.991000	0.00559	0.524000	0.24156	0.000000	0.06391	0.000000	0.08366	0.042000	0.14466	0.1311:0.3209:0.0:0.548	5.999	0.18740	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	811.98	42	chr6	42107169	.	C	T	811.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.68;DP=808;ExcessHet=0.0000;FS=3.135;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.55;ReadPosRankSum=1.53;SOR=0.379	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1431	20	0	1	0
chr6	42142395	42142395	T	C	exonic	C6orf132	.	nonsynonymous SNV	C6orf132:NM_001164446:exon1:c.A50G:p.K17R,	.	.	391	1081	48	2	0	52	0.0234869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.025	N	0.993	N	0.695	N	0.38	T	-1.060	T	0.066	T	0.129	3.414	17.53	3.28	0.437	2.036	7.218	0.052	.	0.0061	0.00898562	0.0146	0.0009	0.0099	0.0016	0.0433	0.0091	0.0260	0.0245	0.0035511	549	154602	rs138013556	0.0092	0.0089	0.0088	0.0097	0.0242	0.0091	0.0091	0.0233	0.0230	0.0010	0.0038	0.0034	5.597e-05	0.0180	0.0136	0.0087	0.0080	0.0242	0.0081	0.0081	0.0078	0.0084	0.0238	0.0077	0.0076	0.0203	0.0190	0.0012	0	0.0033	0.0032	0	0.0181	0.0068	0.0118	0.0038	0.0238	0.033	0.44358	D	0.046	0.49120	D	.	.	.	.	.	.	0.025124	0.26142	N	0.263134	0.992795	0.23824	N	1.43	0.35840	L	0.08	0.61559	T	-1.83	0.55821	N	0.094	0.07398	-1.0601	0.11731	T	0.066	0.27087	T	8	0.0038990676	0.00074	T	.	.	.	0.052	0.14661	.	.	.	.	0.1582670425571511	0.15747	.	.	.	.	.	0.026122	0.19398	T	-0.490269	0.00647	T	-0.458761	0.26736	T	0.0113426682460786	0.00168	T	0.630137	0.26349	T	0.08512834	0.19732	0.17037952	0.39143	0.08512834	0.19732	0.17037952	0.39142	-7.258	0.55896	T	.	.	0.112	0.21803	B	.;.	.;.	2.579607	0.33447	19.34	0.99408907045625905	0.63169	0.74913	0.36659	D	AEFDBCI	0.280787	0.39452	N	0.0307429045213938	0.43257	2.622233	0.103904128617391	0.44748	2.750582	0.999999972454606	0.74766	0.455138	0.09556	0	0.563428	0.19063	0	0.52208	0.10781	0	0.56751	0.32155	0	.	.	5.66	3.28	0.36691	2.066000	0.41078	2.670000	0.33941	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.1742:0.0:0.8258	7.218	0.25145	797	0.45241	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2840.11	33	chr6	42142395	.	T	C	2840.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.270e-01;DP=875;ExcessHet=0.1072;FS=1.726;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.99;ReadPosRankSum=1.91;SOR=0.778	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1242	19	0	2	0
chr6	42269235	42269235	C	T	exonic	TRERF1	.	nonsynonymous SNV	TRERF1:NM_001297573:exon5:c.G356A:p.G119D	.	.	414	1096	12	0	0	12	0.00544465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.973	D	0.000	D	0.912	D	0.975	L	2.43	T	-1.075	T	0.058	T	0.554	2.964	15.88	4.61	1.291	3.339	14.61	0.114	.	0.0025	0.00299521	0.0046	0.0006	0.0010	0	0.0024	0.0040	0.0066	0.0155	0.0044695	691	154602	rs61756353	0.0043	0.0043	0.0038	0.0048	0.0162	0.0042	0.0041	0.0155	0.0152	0.0008	0.0008	0.0076	0.0001	0.0030	0.0055	0.0037	0.0048	0.0162	0.0029	0.0029	0.0028	0.0030	0.0172	0.0026	0.0026	0.0142	0.0131	0.0006	0.0022	0.0008	0.0058	0.0002	0.0022	0.0102	0.0038	0.0038	0.0172	0.002	0.91255	D	0.057	0.48336	T	0.995	0.77913	D	0.878	0.72923	P	0.000363	0.45194	D	0.096885	0.912135	0.36439	D	0.695	0.17993	N	2.43	0.18875	T	-2.79	0.59226	D	0.626	0.69737	-1.0748	0.08390	T	0.058	0.24279	T	10	0.0070328712	0.00160	T	.	.	.	0.114	0.32008	.	.	0.216943180021	0.21308	0.24270897400202207	0.24184	0.627197894009	0.56825	0.634327828884	0.57759	T	0.029679	0.27572	T	-0.406345	0.02102	T	-0.343489	0.39949	T	0.0176185546823318	0.00495	T	0.879112	0.64770	D	0.5209401	0.68313	0.5594136	0.74510	0.5209401	0.68314	0.5594136	0.74511	-5.609	0.43002	T	.	.	0.317	0.57835	B	.;.;.;.	.;.;.;.	4.058044	0.60201	24.2	0.99731725281614036	0.82833	0.83670	0.42772	D	AEFBCI	0.484819	0.52468	N	0.405515111845698	0.61724	4.377542	0.414588480782751	0.62471	4.463256	0.996181946692031	0.34579	0.67177	0.52595	0	0.633563	0.54681	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	5.5	4.61	0.56724	2.676000	0.46550	4.929000	0.46112	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7229:0.2771:0.0	14.61	0.68107	874	0.30607	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1981.98	34	chr6	42269235	.	C	T	1981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.160e+00;DP=859;ExcessHet=0.0000;FS=0.614;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=0.955;SOR=0.796	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1224	20	0	1	0
chr6	42721955	42721955	T	C	exonic	PRPH2	.	nonsynonymous SNV	PRPH2:NM_000322:exon1:c.A380G:p.E127G,	Choriodal dystrophy, central areolar 2, Autosomal dominant;Leber congenital amaurosis 18, Autosomal recessive, Autosomal dominant;Macular dystrophy, patterned, 1, Autosomal dominant;Macular dystrophy, vitelliform, 3, Autosomal dominant;Retinitis pigmentosa 7 and digenic, Autosomal recessive, Autosomal dominant;Retinitis punctata albescens, Autosomal recessive, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	962026	Cone-rod_dystrophy|Stargardt_disease|not_provided|PRPH2-related_disorder	Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872|MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827|MedGen:C3661900|MedGen:CN239395	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.23	T	0.121	B	0.217	B	0.000	D	1.000	D	2.605	M	-1.39	T	-0.241	T	0.452	T	0.557	3.775	19.17	6.08	2.330	7.970	16.643	0.451	0.0771473730821	.	0.000399361	0.0005	0	8.64e-05	0.0001	0	1.498e-05	0	0.0032	0.0003752	58	154602	rs543703718	0.0002	0.0002	9.528e-05	0.0003	0.0029	0.0002	0.0002	0.0026	0.0025	0	2.236e-05	0	2.519e-05	0	0.0002	1.799e-05	0.0001	0.0029	9.855e-05	9.845e-05	7.714e-05	0.0001	0.0025	6.006e-05	4.879e-05	0.0014	0.0011	2.409e-05	0	0	0	0	0	0	2.941e-05	0	0.0025	0.008	0.58626	D	0.012	0.63918	D	.	.	.	.	.	.	0.000005	0.62929	D	0.144074	0.999997	0.58761	D	.	.	.	-1.39	0.80387	T	-4.22	0.75854	D	0.207	0.22998	-0.2412	0.76595	T	0.452	0.78597	T	10	0.01619196	0.00341	T	0.077147	0.72702	D	0.451	0.75143	0.521	0.62368	0.910693639176	0.90979	0.7347325705043225	0.73418	0.487374460136	0.47561	0.426002860069	0.28661	T	.	.	.	-0.223103	0.17570	T	-0.0978635	0.63563	T	0.133662187312463	0.15716	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.39999	B	.	.	3.643317	0.51665	23.1	0.99852907423280257	0.93191	0.99530	0.97121	D	AEFDBI	0.928544	0.91292	D	0.348703693679775	0.58671	4.040817	0.478499057057429	0.66567	4.968994	0.999999999997072	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	6.08	6.08	0.98982	6.240000	0.72321	6.112000	0.53677	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:0.0:0.0:1.0	16.643	0.84991	608	0.67185	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	7555.98	113	chr6	42721955	.	T	C	7555.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.856e+00;DP=2052;ExcessHet=0.0000;FS=1.744;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.43;ReadPosRankSum=0.087;SOR=0.554	GT:AD:DP:GQ:PL	0/1:314,294:608:99:7570,0,8469	20	0	1	0
chr6	42745487	42745487	T	C	exonic	TBCC	.	nonsynonymous SNV	TBCC:NM_003192:exon1:c.A587G:p.K196R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.012	B	0.062	B	0.001	N	0.940	D	1.645	L	-1.0	T	-0.969	T	0.135	T	0.052	0.896	8.640	2.45	0.836	1.809	9.665	0.142	0.0230696324998	.	.	9.312e-06	0	0.0001	0	0	0	0	0	6.5e-06	1	154602	rs747041669	1.37e-06	1.368e-06	1.362e-06	1.377e-06	2.989e-05	2.3e-07	9e-08	.	.	2.989e-05	2.258e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.707	0.04081	T	0.287	0.21210	T	0.012	0.16265	B	0.062	0.26930	B	0.001123	0.40136	N	0.268180	0.939648	0.37268	D	2.47	0.71715	M	-1.0	0.76037	T	-0.78	0.21644	N	0.168	0.17828	-0.9692	0.37366	T	0.135	0.44875	T	10	0.07663259	0.11996	T	0.02307	0.46009	T	0.142	0.37995	0.372	0.38340	0.537262924806	0.53376	0.6791546308973043	0.67854	.	.	0.402836292982	0.25464	T	0.017635	0.14352	T	-0.276615	0.11030	T	-0.452347	0.27436	T	0.0817720362510145	0.10213	T	0.70163	0.31127	T	0.11132611	0.26309	0.12608822	0.30372	0.11132611	0.26309	0.12608822	0.30371	-3.337	0.14219	T	.	.	0.118	0.24054	B	.	.	2.582406	0.33487	19.35	0.91494635040747962	0.20768	0.78062	0.38459	D	ALL	0.376261	0.46047	N	-0.38408761096165	0.26036	1.417872	-0.245952724110293	0.29911	1.679674	0.999999998875378	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.1	2.45	0.28953	1.776000	0.38223	2.729000	0.34373	0.609000	0.47794	0.997000	0.40164	0.999000	0.35428	0.970000	0.54328	0.454:0.0:0.0:0.546	9.665	0.39143	575	0.70088	Tubulin binding cofactor C-like domain|C-CAP/cofactor C-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1025.98	34	chr6	42745487	.	T	C	1025.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.950e-01;DP=766;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.45;ReadPosRankSum=1.23;SOR=0.739	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,114,1400	20	0	1	0
chr6	42923120	42923120	A	C	exonic	PTCRA	.	nonsynonymous SNV	PTCRA:NM_001243168:exon2:c.A152C:p.D51A	.	.	431	1061	30	0	0	30	0.0139405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.973	D	0.004	N	1.000	D	1.1	L	0.37	T	-0.781	T	0.151	T	0.652	3.130	16.46	5.84	2.219	4.917	12.613	0.161	.	7.7e-05	0.00179712	0.0024	0.0002	0	0.0001	0	0.0003	0.0033	0.0160	0.0020634	319	154602	rs200942121	0.0012	0.0012	0.0007	0.0017	0.0171	0.0012	0.0011	0.0164	0.0161	8.961e-05	2.236e-05	0.0009	2.519e-05	0	0.0055	0.0001	0.0017	0.0171	0.0004	0.0004	0.0002	0.0007	0.0101	0.0003	0.0003	0.0079	0.0071	0	0	0	0.0012	0	0	0	0.0002	0.0005	0.0101	0.007	0.59928	D	0.012	0.63918	D	1.0	0.90584	D	0.973	0.72923	D	0.004491	0.33689	N	0.135447	0.999999	0.58761	D	1.935	0.51832	L	0.37	0.57729	T	-6.44	0.91353	D	0.545	0.57177	-0.7808	0.56257	T	0.151	0.47926	T	10	0.006799668	0.00154	T	.	.	.	0.244	0.55061	.	.	0.722683262886	0.72023	0.6095820703114316	0.60890	0.680399982641	0.59990	0.40796661377	0.26175	T	0.495689	0.81830	T	-0.278001	0.10881	T	-0.15848	0.58488	T	0.129005933601172	0.15289	T	0.588541	0.21576	T	0.5270598	0.68663	0.4943703	0.70756	0.5270598	0.68664	0.4943703	0.70756	-7.429	0.57109	T	.	.	0.575	0.69173	P	.;.	.;.	4.410713	0.68226	25.2	0.99476520816795555	0.66633	0.37091	0.25682	N	AEFDGBI	0.490938	0.52821	N	0.00689018640179173	0.42169	2.535691	0.000455088218324518	0.39738	2.360712	0.999999998777156	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.84	5.84	0.93373	5.169000	0.64823	11.080000	0.85733	0.756000	0.94297	0.258000	0.24929	1.000000	0.68203	0.594000	0.31239	1.0:0.0:0.0:0.0	12.613	0.55919	298	0.88068	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1603.98	34	chr6	42923120	.	A	C	1603.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.09;DP=853;ExcessHet=0.0000;FS=3.019;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=0.070;SOR=0.977	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1177	20	0	1	0
chr6	42964826	42964826	C	A	exonic	PEX6	.	nonsynonymous SNV	PEX6:NM_000287:exon16:c.G2770T:p.A924S	Heimler syndrome 2, Autosomal recessive;Peroxisome biogenesis disorder 4A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 4B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	237362	Peroxisome_biogenesis_disorder_4A_(Zellweger)|not_specified|Zellweger_spectrum_disorders|not_provided|Peroxisome_biogenesis_disorder	MONDO:MONDO:0013930,MedGen:C3553936,OMIM:614862,Orphanet:912|MedGen:CN169374|MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912|MedGen:C3661900|MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.32	T	0.0	B	0.001	B	0.315	N	1.000	N	0.57	N	-3.53	D	-0.614	T	0.360	T	0.037	0.402	6.182	-2.49	-0.937	-0.463	5.353	0.147	.	0.0064	0.0061901	0.0019	0.0206	0.0012	0	0	3.007e-05	0	0	0.0017852	276	154602	rs34551839	0.0005	0.0005	0.0006	0.0004	0.0178	0.0005	0.0005	0.0166	0.0162	0.0178	0.0012	0	0	0	0.0002	1.349e-05	0.0010	2.319e-05	0.0057	0.0057	0.0059	0.0055	0.0196	0.0054	0.0052	0.0185	0.0180	0.0196	0	0.0031	0	0	0	0	0	0.0028	0	0.528	0.07071	T	0.72	0.05345	T	0.0	0.02946	B	0.001	0.04355	B	0.315008	0.14368	N	0.711201	1	0.18198	N	0.475	0.13142	N	-3.53	0.94764	D	0.58	0.02598	N	0.229	0.25745	-0.6142	0.64229	T	0.360	0.72216	T	10	0.007917464	0.00180	T	.	.	.	0.147	0.38986	.	.	0.730151364954	0.72775	0.238456106741822	0.23759	0.130801400463	0.14758	0.288226246834	0.08665	T	0.030047	0.21388	T	-0.46494	0.00915	T	-0.424374	0.30576	T	0.00186320996829016	0.00019	T	0.824517	0.48627	T	0.022808868	0.00971	0.03109739	0.01652	0.022808868	0.00970	0.03109739	0.01652	-3.42	0.15327	T	0.08363105328867801	0.04534	0.081	0.08320	B	.	.	0.399732	0.07708	4.387	0.84781180015618729	0.15494	0.08405	0.14338	N	AEFDBI	0.116984	0.22937	N	-1.01343246095747	0.08325	0.3899184	-0.998064975115894	0.09828	0.4912836	0.783199862270244	0.23882	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.64	-2.49	0.06034	-0.425000	0.07085	-0.273000	0.10332	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	1.000000	0.97212	0.2378:0.3531:0.0:0.4091	5.353	0.15349	200	0.92234	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1681.98	33	chr6	42964826	.	C	A	1681.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.292e+00;DP=861;ExcessHet=0.0000;FS=0.612;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=0.950;SOR=0.633	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1336	20	0	1	0
chr6	43051227	43051227	C	A	exonic	CUL7	.	nonsynonymous SNV	CUL7:NM_001168370:exon4:c.G1070T:p.R357L	3-M syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.208	B	0.103	B	0.996	N	1.000	N	1.495	L	-1.38	T	-0.829	T	0.200	T	0.326	0.120	4.648	1.09	-0.087	0.730	5.499	0.153	0.219033115059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.167	0.31629	T	0.208	0.29916	B	0.029	0.21540	B	0.996267	0.07996	N	0.998402	1	0.08975	N	2.215	0.62545	M	-1.4	0.80474	T	-2.44	0.53420	N	0.421	0.46086	-0.8287	0.53384	T	0.200	0.55598	T	10	0.2142477	0.37941	T	0.219033	0.87688	D	0.153	0.40148	0.232	0.16005	0.793195980341	0.79127	0.3288074231824844	0.32793	0.320051982411	0.34209	0.314044266939	0.12518	T	0.751342	0.93188	D	0.00379166	0.52177	T	-0.23233	0.51545	T	0.29691556096077	0.24876	T	0.763424	0.38984	T	0.22268812	0.44874	0.12873045	0.30965	0.22268812	0.44874	0.12873045	0.30964	-2.944	0.10376	T	.	.	0.107	0.24054	B	.;.	.;.	2.099902	0.26715	17.21	0.97532407625924844	0.34464	0.51851	0.28992	D	AEFDBI	0.362238	0.45156	N	-0.922484955551655	0.10317	0.4924519	-0.991189184756113	0.09983	0.4999309	0.999998487778161	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	5.02	1.09	0.19517	0.619000	0.24083	-0.958000	0.06789	-0.202000	0.08738	0.090000	0.22578	0.000000	0.08366	0.003000	0.05239	0.0:0.5072:0.2684:0.2245	5.499	0.16108	199	0.92292	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1623.98	34	chr6	43051227	.	C	A	1623.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.27;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.32;ReadPosRankSum=0.930;SOR=0.762	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1275	20	0	1	0
chr6	43054407	43054407	C	G	exonic	MRPL2	.	nonsynonymous SNV	MRPL2:NM_015950:exon7:c.G785C:p.R262P,	.	.	429	1064	29	0	0	29	0.0134446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.961	D	0.000	D	1.000	D	3.745	H	0.79	T	0.018	D	0.385	T	0.788	5.199	33	5.53	2.591	5.434	17.645	0.378	.	0.0002	0.00239617	0.0031	0.0003	0.0009	0.0001	0	0.0008	0.0033	0.0187	0.0027167	420	154602	rs199896735	0.0018	0.0018	0.0012	0.0024	0.0196	0.0017	0.0017	0.0188	0.0185	0.0001	0.0013	0.0010	7.557e-05	1.872e-05	0.0078	0.0005	0.0027	0.0196	0.0007	0.0007	0.0005	0.0010	0.0114	0.0006	0.0006	0.0090	0.0081	7.216e-05	0	0.0007	0.0014	0	0	0.0068	0.0005	0.0014	0.0114	0.003	0.68238	D	0.004	0.74150	D	0.999	0.77913	D	0.961	0.70482	D	0.000018	0.62929	D	0.111499	0.99999	0.81001	D	4.05	0.97045	H	0.79	0.49068	T	-4.39	0.77225	D	0.801	0.79696	0.018	0.82623	D	0.385	0.74039	T	10	0.013232887	0.00281	T	.	.	.	0.378	0.69612	.	.	0.800725179388	0.79886	0.8292462785087611	0.82882	0.755948700181	0.64012	0.759919524193	0.75917	T	0.344119	0.71268	T	-0.191816	0.21991	T	-0.0333701	0.68144	D	0.152201805863702	0.17278	T	0.967103	0.88031	D	0.9661541	0.97892	0.88784444	0.94114	0.9661541	0.97892	0.88784444	0.94115	-12.43	0.86883	D	.	.	0.972	0.89775	P	.	.	5.412315	0.90588	31	0.99749668682109593	0.84152	0.95416	0.64634	D	AEFDBCIJ	0.935680	0.93091	D	0.929189333022932	0.93115	11.831	0.851192053610958	0.93086	11.81517	0.999999999944384	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.657601	0.63696	0	.	.	5.53	5.53	0.82530	5.506000	0.66713	7.574000	0.60786	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	17.645	0.88048	209	0.91859	Ribosomal protein L2, C-terminal|Ribosomal protein L2, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3025.98	42	chr6	43054407	.	C	G	3025.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.777;DP=1060;ExcessHet=0.0000;FS=1.501;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=-5.110e-01;SOR=0.595	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	20	0	1	0
chr6	43132024	43132024	A	G	exonic	PTK7	.	nonsynonymous SNV	PTK7:NM_001270398:exon6:c.A845G:p.H282R	.	.	409	1110	3	0	0	3	0.00134953	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.81	T	0.08	B	0.038	B	0.001	N	1.000	D	0.485	N	4.76	T	-1.066	T	0.063	T	0.393	-0.838	0.578	5.51	2.095	0.585	9.592	0.145	.	0.0003	0.00219649	0.0011	0	8.655e-05	0	0	0.0003	0.0011	0.0064	0.0009444	146	154602	rs141004962	0.0006	0.0006	0.0005	0.0008	0.0057	0.0006	0.0006	0.0053	0.0052	8.962e-05	0.0001	0.0004	0	0	0.0003	0.0004	0.0006	0.0057	0.0004	0.0004	0.0003	0.0004	0.0063	0.0003	0.0003	0.0045	0.0039	9.681e-05	0	0.0001	0	0	0	0	0.0003	0.0005	0.0063	0.387	0.23905	T	0.098	0.42261	T	0.056	0.24543	B	0.038	0.23361	B	0.001442	0.38980	N	0.249802	0.814441	0.36202	D	1.48	0.37141	L	-0.22	0.66474	T	-1.31	0.46146	N	0.278	0.36359	-1.0656	0.10409	T	0.063	0.26314	T	10	0.003968686	0.00076	T	.	.	.	0.145	0.38592	.	.	0.629363468064	0.62633	0.43543742437808564	0.43460	0.443937874564	0.44312	0.50146061182	0.39031	T	0.104826	0.41474	T	-0.372551	0.03467	T	-0.305863	0.44102	T	0.0241534323533302	0.01164	T	0.792521	0.44736	T	0.06616283	0.14211	0.065905206	0.13424	0.06616283	0.14210	0.065905206	0.13424	-4.004	0.24861	T	.	.	0.203	0.42791	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.599094	0.33735	19.43	0.23221897161228403	0.00971	0.20304	0.20991	N	AEFBI	0.112838	0.22288	N	-0.627320000577219	0.18127	0.9386096	-0.460033919892231	0.23265	1.267821	0.99975274214381	0.42595	0.732398	0.92422	0	0.610034	0.51514	0	0.702456	0.68683	0	0.727631	0.95156	0	.	.	5.51	5.51	0.81769	0.586000	0.23596	11.209000	0.89330	0.686000	0.82685	0.000000	0.06391	1.000000	0.68203	0.962000	0.52141	0.7384:0.0:0.0:0.2616	9.592	0.38719	261	0.89765	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;.;Immunoglobulin-like domain|Immunoglobulin subtype 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	690.98	33	chr6	43132024	.	A	G	690.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.800e-02;DP=768;ExcessHet=0.0000;FS=0.979;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=-9.790e-01;SOR=0.488	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1040	20	0	1	0
chr6	43132637	43132637	C	T	exonic	PTK7	.	nonsynonymous SNV	PTK7:NM_001270398:exon7:c.C1202T:p.A401V	.	.	421	1092	9	0	0	9	0.00410397	.	.	2196508	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	1.0	D	1.0	D	0.000	D	1.000	D	2.45	M	-0.66	T	-0.476	T	0.271	T	0.845	4.679	25.8	4.14	1.124	5.378	11.549	0.508	0.190875591832	7.7e-05	0.000199681	2.139e-05	0.0002	0	0	0	0	0	0	1.94e-05	3	154602	rs188773646	1.879e-05	1.915e-05	1.105e-05	2.665e-05	0.0005	1.287e-05	1.103e-05	0.0001	7.575e-05	6.067e-05	0	3.901e-05	0	1.944e-05	0.0005	1.182e-05	1.678e-05	7.186e-05	2.626e-05	2.625e-05	0	5.37e-05	0.0004	8.14e-06	5.14e-06	7.29e-05	3.029e-05	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0004	0.002	0.72154	D	0.001	0.92824	D	1.0	0.90584	D	0.995	0.97372	D	0.000009	0.62929	D	0.110957	0.999999	0.81001	D	2.275	0.64647	M	-0.66	0.72348	T	-2.95	0.66206	D	0.667	0.69037	-0.4763	0.69501	T	0.271	0.64256	T	10	0.6560336	0.69879	D	0.190876	0.86150	D	0.653	0.86936	.	.	0.728124826822	0.72571	0.9381717045838789	0.93797	0.725430536437	0.62450	0.553306281567	0.46323	T	0.421575	0.77292	T	0.265294	0.80015	D	0.143	0.79756	D	0.847413420677185	0.49944	D	0.905209	0.66592	D	0.3239999	0.54975	0.36087018	0.61521	0.3239999	0.54975	0.36087018	0.61521	-6.287	0.50655	T	.	.	0.334	0.58251	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.225197	0.63937	24.6	0.99925245183978184	0.99042	0.97188	0.73208	D	AEFDBI	0.733427	0.67987	D	0.326894976798901	0.57533	3.92094	0.330107554499793	0.57317	3.896909	0.999999924334721	0.74766	0.706548	0.73137	0	0.659912	0.62753	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.01	4.14	0.47821	5.454000	0.66392	4.938000	0.46187	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.9173:0.0:0.0827	11.549	0.49964	261	0.89765	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1904.98	33	chr6	43132637	.	C	T	1904.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=824;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.01;ReadPosRankSum=-3.787e+00;SOR=0.753	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1289	20	0	1	0
chr6	43187720	43187720	G	C	exonic	CUL9	.	nonsynonymous SNV	CUL9:NM_015089:exon7:c.G1589C:p.G530A,	.	.	474	1030	17	1	0	19	0.00913901	.	.	2823052	CUL9-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.009	B	0.005	B	0.051	N	1.000	N	1.1	L	-0.53	T	-1.011	T	0.099	T	0.071	1.093	9.462	0.888	0.233	1.453	0.723	0.124	.	0.0081	0.00419329	0.0072	0.0024	0.0037	0	0.0132	0.0103	0.0112	0.0016	0.007322	1132	154602	rs61739483	0.0091	0.0091	0.0092	0.0090	0.0111	0.0090	0.0089	0.0101	0.0100	0.0018	0.0046	0.0141	0	0.0108	0.0111	0.0103	0.0083	0.0015	0.0069	0.0069	0.0069	0.0069	0.0098	0.0066	0.0064	0.0092	0.0089	0.0020	0.0055	0.0050	0.0130	0.0002	0.0140	0.0068	0.0098	0.0104	0.0008	0.085	0.32929	T	0.029	0.54541	D	0.009	0.15093	B	0.004	0.10090	B	0.050672	0.02015	N	1.987250	1	0.08975	N	1.935	0.51832	L	-0.64	0.72125	T	-0.47	0.15178	N	0.112	0.09914	-1.0106	0.26729	T	0.099	0.36856	T	10	0.004929602	0.00106	T	.	.	.	0.124	0.34239	.	.	0.379559396232	0.37572	0.22434815014933449	0.22349	0.36479059056	0.38090	0.228973686695	0.01893	T	0.08527	0.37465	T	-0.525845	0.00406	T	-0.515792	0.20722	T	0.00875300935803619	0.00108	T	0.464354	0.13557	T	0.03551936	0.04196	0.043465547	0.05414	0.03551936	0.04196	0.043465547	0.05414	-3.919	0.22587	T	.	.	0.101	0.24599	B	.;.	.;.	0.780912	0.11512	8.110	0.92500138968775358	0.21936	0.60493	0.31211	D	AEFDBI	0.068857	0.13603	N	-0.532126256349192	0.21048	1.114139	-0.466610946254928	0.23079	1.256802	0.999441453182413	0.39736	0.562547	0.31514	0	0.577304	0.33150	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.61	0.888	0.18340	0.965000	0.28916	1.505000	0.26983	-0.169000	0.11342	0.763000	0.29277	0.888000	0.27792	0.487000	0.28723	0.4113:0.1688:0.2488:0.1712	0.723	0.00884	309	0.87553	.;.	.	.	.	.	rs61739483	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1790.98	39	chr6	43187720	.	G	C	1790.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.739;DP=813;ExcessHet=0.0000;FS=0.789;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.39;ReadPosRankSum=-6.460e-01;SOR=0.598	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1249	20	0	1	0
chr6	43206170	43206170	C	G	exonic	CUL9	.	nonsynonymous SNV	CUL9:NM_015089:exon25:c.C4957G:p.Q1653E,	.	.	3	1493	25	1	0	27	0.00896117	.	.	2823056	CUL9-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.041	B	0.016	B	0.000	N	0.930	D	1.24	L	-0.74	T	-0.711	T	0.204	T	0.27	2.381	13.92	4.31	2.417	4.584	17.385	0.110	.	0.0035	0.00419329	0.0073	0.0024	0.0040	0	0.0134	0.0103	0.0115	0.0016	0.0067916	1050	154602	rs142418416	0.0089	0.0089	0.0090	0.0087	0.0113	0.0087	0.0087	0.0098	0.0097	0.0018	0.0046	0.0139	0	0.0108	0.0113	0.0099	0.0081	0.0015	0.0068	0.0068	0.0068	0.0068	0.0096	0.0065	0.0063	0.0090	0.0087	0.0020	0.0055	0.0052	0.0130	0.0002	0.0138	0.0068	0.0096	0.0099	0.0010	0.044	0.41096	D	0.116	0.36497	T	0.003	0.11197	B	0.009	0.14300	B	0.000402	0.44736	N	0.233673	0.814351	0.36934	D	1.68	0.43186	L	-0.74	0.73205	T	-1.4	0.34596	N	0.308	0.34767	-0.7110	0.59903	T	0.204	0.56114	T	10	0.0067023337	0.00152	T	.	.	.	0.110	0.31079	.	.	0.409069985131	0.40521	0.3891948001785718	0.38834	0.489810199868	0.47734	0.363035976887	0.19827	T	0.232361	0.59890	T	-0.378587	0.03180	T	-0.304914	0.44203	T	0.0123168712985461	0.00200	T	0.845015	0.53247	T	0.2174411	0.44227	0.2518575	0.50804	0.2174411	0.44227	0.2518575	0.50803	-8.452	0.64111	D	.	.	0.107	0.19998	B	.;.	.;.	2.846380	0.37571	20.5	0.97788199928553543	0.35982	0.97264	0.73666	D	AEFBI	0.508009	0.53807	D	-0.00229966961702252	0.41752	2.503011	0.164421785088642	0.47911	3.014347	0.979522052657067	0.30037	0.615465	0.37627	0	0.633656	0.55848	0	0.616094	0.41390	0	0.635551	0.53088	0	.	.	5.23	4.31	0.50718	4.687000	0.61396	6.087000	0.53406	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.8646:0.1354:0.0	17.385	0.87303	364	0.84707	Cullin, N-terminal|Cullin homology domain;Cullin, N-terminal|Cullin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1493.98	33	chr6	43206170	.	C	G	1493.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.109e+00;DP=780;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.30;ReadPosRankSum=-6.100e-01;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1306	20	0	1	0
chr6	43263202	43263202	C	T	exonic	TTBK1	.	nonsynonymous SNV	TTBK1:NM_032538:exon13:c.C1838T:p.P613L,	.	.	418	1102	2	0	0	2	0.000906618	.	.	710530	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.02	B	0.018	B	0.098	N	1.000	N	0	N	2.01	T	-0.976	T	0.009	T	0.088	0.098	4.526	0.262	0.215	0.878	1.229	0.041	.	0.0045	0.00259585	0.0068	0.0026	0.0043	0	0.0146	0.0116	0.0087	0.0005	0.0036351	562	154602	rs34993661	0.0076	0.0075	0.0078	0.0074	0.0089	0.0075	0.0074	0.0088	0.0087	0.0012	0.0024	0.0014	0	0.0103	0.0011	0.0089	0.0059	0.0005	0.0054	0.0054	0.0052	0.0056	0.0084	0.0051	0.0050	0.0079	0.0076	0.0012	0.0055	0.0025	0.0009	0	0.0137	0	0.0084	0.0033	0	0.011	0.55530	D	0.726	0.05238	T	0.02	0.18235	B	0.018	0.18489	B	0.097935	0.02519	N	1.770700	0.999996	0.08975	N	0.69	0.16971	N	2.01	0.21291	T	-0.53	0.16393	N	0.057	0.02861	-0.9759	0.35926	T	0.009	0.03183	T	10	0.0050085187	0.00108	T	.	.	.	0.041	0.10877	.	.	0.043077524339	0.03247	0.1379616935541065	0.13720	0.318893629979	0.34104	0.329717755318	0.14891	T	0.005882	0.05325	T	-0.651761	0.00071	T	-0.697309	0.05974	T	0.00141565845518355	0.00014	T	0.650635	0.26417	T	0.040601786	0.05827	0.044346094	0.05725	0.038520645	0.05146	0.051642638	0.08350	-4.022	0.24132	T	0.24594726753063545	0.33310	0.062	0.02428	B	.;.	.;.	0.893671	0.12673	9.196	0.85346632925458632	0.15836	0.06950	0.12976	N	AEFDBI	0.088299	0.17900	N	-0.965640280494798	0.09344	0.441884	-0.95042396478968	0.10913	0.5527385	0.998485726961877	0.37052	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.44	0.262	0.14853	-0.111000	0.10778	1.016000	0.23368	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.162000	0.20715	0.1784:0.4463:0.1737:0.2016	1.229	0.01822	184	0.92813	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1349.98	31	chr6	43263202	.	C	T	1349.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.800e-02;DP=770;ExcessHet=0.0000;FS=1.154;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.13;ReadPosRankSum=-8.070e-01;SOR=0.472	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1098	20	0	1	0
chr6	43357259	43357259	G	A	exonic	ZNF318	.	nonsynonymous SNV	ZNF318:NM_014345:exon3:c.C1055T:p.P352L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.923	D	0.000	D	1.000	D	0.695	N	3.87	T	-0.902	T	0.015	T	0.344	4.396	23.3	5.64	2.663	3.945	17.884	0.184	0.0131082294592	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1425500882	2.052e-06	2.052e-06	2.722e-06	1.375e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	0.998	0.73220	D	0.923	0.65830	D	0.000083	0.51296	D	0.084454	0.999963	0.52935	D	2.085	0.57729	M	3.87	0.03597	T	-2.4	0.52776	N	0.512	0.54322	-0.9019	0.47792	T	0.015	0.05946	T	10	0.42524853	0.57130	T	0.013108	0.32253	T	0.184	0.45763	0.363	0.36874	0.497806138765	0.49414	0.41345451549878975	0.41261	0.379708804077	0.39358	0.59476685524	0.52166	T	0.118044	0.43858	T	-0.110126	0.34749	T	-0.395965	0.33855	T	0.949710428714752	0.63174	D	0.835117	0.50455	T	0.1610502	0.36088	0.22655374	0.47637	0.1610502	0.36088	0.22655374	0.47636	-3.713	0.19510	T	.	.	0.230	0.46285	B	.	.	4.361364	0.67072	25.0	0.99890877548910073	0.96513	0.90929	0.52529	D	AEFBHCI	0.437905	0.49752	N	0.576734629915458	0.71722	5.694643	0.622246269526078	0.76557	6.513356	0.999999986327125	0.74766	0.719381	0.83141	0	0.697927	0.68747	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	4.814000	0.62318	9.857000	0.82030	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.884	0.88763	222	0.91398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2166.98	34	chr6	43357259	.	G	A	2166.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=887;ExcessHet=0.0000;FS=0.541;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=1.10;SOR=0.740	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1288	20	0	1	0
chr6	43369254	43369254	G	C	exonic	ZNF318	.	nonsynonymous SNV	ZNF318:NM_014345:exon1:c.C112G:p.R38G,	.	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.351	B	0.023	B	.	.	0.923	N	0.55	N	4.19	T	-0.895	T	0.002	T	0.261	1.368	10.50	1.96	0.505	0.945	7.043	0.020	0.701909178479	.	0.000199681	0.0023	0	.	0	.	0	0	0.0028	0.0002846	44	154602	rs535382812	0.0049	0.0042	0.0049	0.0049	0.0050	0.0048	0.0047	0.0049	0.0049	0.0006	0.0009	0.0012	0	0.0218	0.0003	0.0050	0.0034	0.0015	0.0040	0.0040	0.0031	0.0049	0.0041	0.0037	0.0036	0.0037	0.0035	0.0005	0	0.0007	0.0012	0	0.0277	0.0034	0.0041	0.0038	0.0017	0.013	0.53900	D	0.613	0.07617	T	0.351	0.33667	B	0.023	0.19966	B	.	.	.	.	0.923464	0.27237	N	0.895	0.22405	L	4.19	0.02716	T	0.32	0.03955	N	0.269	0.30461	-0.8954	0.48446	T	0.002	0.00707	T	9	0.0040543973	0.00079	T	0.701909	0.97562	D	0.020	0.03691	.	.	0.12205267543	0.11705	0.30220818813039835	0.30133	0.0794955650032	0.08942	0.886402606964	0.94805	D	0.012493	0.10973	T	-0.526165	0.00405	T	-0.528309	0.19456	T	0.135818778229718	0.15910	T	0.458554	0.13215	T	0.113286674	0.26757	0.20436041	0.44557	0.113286674	0.26757	0.20436041	0.44556	-5.332	0.40259	T	.	.	0.193	0.41357	B	.	.	3.531200	0.49542	22.8	0.88211510470192345	0.17801	0.34168	0.25003	N	AEFDBHCIJ	0.092393	0.18706	N	-0.469136645120474	0.23096	1.237899	-0.411232128573418	0.24668	1.352094	0.999999338538378	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	2.87	1.96	0.25203	1.032000	0.29786	6.493000	0.55764	0.407000	0.20612	0.882000	0.31029	1.000000	0.68203	0.647000	0.32611	0.0:0.0:0.7292:0.2708	7.043	0.24210	268	0.89479	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	350.98	33	chr6	43369254	.	G	C	350.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=711;ExcessHet=0.0000;FS=5.884;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=0.854;SOR=2.115	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1030	20	0	1	0
chr6	43448894	43448894	A	G	exonic	ABCC10	.	nonsynonymous SNV	ABCC10:NM_033450:exon17:c.A3889G:p.I1297V	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.006	B	0.019	B	0.000	N	0.998	D	0.155	N	-3.12	D	-0.597	T	0.347	T	0.121	2.386	13.94	3.23	0.424	3.217	9.234	0.204	0.024179362967	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1371849965	7.531e-06	7.524e-06	9.538e-06	5.505e-06	5.039e-05	4.04e-06	2.95e-06	8.35e-06	3.12e-06	0	0	0	5.039e-05	0	0	6.298e-06	0	2.324e-05	6.571e-06	6.566e-06	1.285e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.227	0.19430	T	0.693	0.06836	T	0.006	0.13644	B	0.017	0.18783	B	0.000029	0.55875	N	0.119358	0.97079	0.44218	D	0.09	0.08384	N	-3.12	0.92774	D	-0.45	0.14782	N	0.222	0.28965	-0.5967	0.64951	T	0.347	0.71170	T	10	0.21336406	0.37826	T	0.024179	0.47165	T	0.204	0.49076	0.666	0.80401	0.575644953977	0.57233	0.5431675522038572	0.54242	0.144826037557	0.16360	0.293534964323	0.09439	T	0.285016	0.65780	T	-0.140163	0.29866	T	-0.269982	0.47820	T	0.172880426049232	0.18774	T	0.820118	0.47860	T	0.025701	0.01537	0.047218297	0.06755	0.025701	0.01537	0.047218297	0.06754	-3.834	0.21313	T	.	.	0.070	0.05360	B	.;.	.;.	1.656960	0.21132	15.07	0.98405185611833279	0.41116	0.96714	0.70547	D	AEFBI	0.520621	0.54540	D	-0.353641795297453	0.27138	1.486578	-0.165681591600853	0.32808	1.870304	0.895307603979913	0.25951	0.732398	0.92422	0	0.743671	0.97443	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.6	3.23	0.36150	3.209000	0.50824	0.417000	0.18177	0.691000	0.84096	1.000000	0.71638	0.001000	0.17328	0.995000	0.73285	0.8507:0.0:0.1493:0.0	9.234	0.36616	338	0.86082	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1884.98	33	chr6	43448894	.	A	G	1884.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.32;DP=857;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=0.506;SOR=0.723	GT:AD:DP:GQ:PL	0/1:91,76:167:99:1899,0,2178	20	0	1	0
chr6	43501620	43501620	G	A	exonic	TJAP1	.	nonsynonymous SNV	TJAP1:NM_001146017:exon5:c.G223A:p.D75N	.	.	430	1072	17	3	0	23	0.0106138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.986	D	0.84	P	0.002	N	0.923	D	1.7	L	-1.21	T	-0.801	T	0.194	T	0.066	4.953	28.8	4.85	2.256	5.814	16.225	0.157	.	0.0060	0.00299521	0.0064	0.0015	0.0058	0	0.0112	0.0080	0.0101	0.0050	0.0061772	955	154602	rs146174516	0.0065	0.0065	0.0064	0.0066	0.0093	0.0064	0.0063	0.0073	0.0066	0.0013	0.0053	0.0157	2.52e-05	0.0099	0.0093	0.0066	0.0069	0.0056	0.0058	0.0058	0.0057	0.0059	0.0080	0.0054	0.0053	0.0075	0.0072	0.0013	0	0.0051	0.0150	0	0.0107	0.0068	0.0080	0.0043	0.0048	0.079	0.51853	T	0.539	0.11041	T	0.986	0.61523	D	0.84	0.60170	P	0.001836	0.37892	N	0.260277	0.922746	0.36726	D	1.355	0.33814	L	-1.21	0.78645	T	-0.07	0.11913	N	0.649	0.67304	-0.8013	0.55068	T	0.194	0.54681	T	10	0.0064109266	0.00145	T	.	.	.	0.283	0.60100	.	.	0.84447348625	0.84298	0.14216253384610422	0.14139	0.563213150992	0.52764	0.744480013847	0.73632	T	0.045408	0.27114	T	-0.437271	0.01342	T	-0.393637	0.34127	T	0.0270910500318395	0.01557	T	0.929107	0.73907	D	0.10933551	0.25849	0.09088635	0.21339	0.10933551	0.25849	0.09088635	0.21339	-9.229	0.71145	D	.	.	0.265	0.55916	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.879583	0.80008	27.2	0.998856845130766	0.96126	0.99095	0.91152	D	AEFDBI	0.695007	0.65382	D	0.331883087932109	0.57792	3.948008	0.39220626317631	0.61083	4.303665	0.999999087670254	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.85	4.85	0.62375	5.603000	0.67304	7.361000	0.58346	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	16.225	0.82105	227	0.91186	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1274.98	33	chr6	43501620	.	G	A	1274.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.62;ReadPosRankSum=1.21;SOR=0.702	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1395	20	0	1	0
chr6	43507540	43507540	C	T	exonic	LRRC73	.	nonsynonymous SNV	LRRC73:NM_001012974:exon5:c.G796A:p.G266R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.0	B	0.001	B	0.095	N	0.705	D	0.41	N	1.33	T	-1.079	T	0.026	T	0.26	1.641	11.45	4.94	2.735	1.294	13.863	0.049	0.00246818291918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.751e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.455	0.08865	T	0.507	0.10930	T	0.0	0.02946	B	0.001	0.04355	B	0.095125	0.20138	N	0.516357	0.704575	0.33456	D	1.155	0.29575	L	1.33	0.35031	T	0.55	0.02721	N	0.238	0.26837	-1.0794	0.07465	T	0.026	0.10998	T	10	0.081956774	0.13475	T	0.002468	0.04896	T	0.049	0.13647	0.311	0.28451	0.043077524339	0.03247	0.5193416520113022	0.51857	0.887394481255	0.70061	0.440892457962	0.30698	T	0.005061	0.04495	T	-0.204679	0.20134	T	-0.531783	0.19109	T	0.247302040457726	0.22752	T	0.820618	0.47957	T	0.1632679	0.36457	0.15897736	0.37099	0.1632679	0.36457	0.15897736	0.37098	-5.002	0.36861	T	.	.	0.109	0.20702	B	.	.	2.662476	0.34688	19.70	0.93425050555343714	0.23195	0.80672	0.40250	D	AEFBCI	0.697042	0.65518	D	-0.245743448807245	0.31274	1.751958	-0.0278485882874389	0.38462	2.266388	0.999999672572003	0.74766	0.582742	0.33608	0	0.514364	0.08380	0	0.61531	0.40942	0	0.691587	0.68394	0	.	.	4.94	4.94	0.64645	1.583000	0.36188	5.755000	0.49649	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	13.863	0.63069	224	0.91330	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1243.98	34	chr6	43507540	.	C	T	1243.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=803;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.64;ReadPosRankSum=0.665;SOR=0.716	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1230	20	0	1	0
chr6	43512208	43512208	C	T	exonic	YIPF3	.	nonsynonymous SNV	YIPF3:NM_015388:exon9:c.G1012A:p.A338T,	.	.	.	.	.	.	.	.	.	.	.	2444156	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.18	T	0.007	B	0.003	B	0.002	N	1.000	D	0.46	N	0.72	T	-1.081	T	0.027	T	0.305	1.101	9.491	1.71	0.338	0.636	3.618	0.034	0.00835293890219	.	.	8.25e-05	9.614e-05	8.637e-05	0	0.0002	6.003e-05	0	0.0002	6.47e-05	10	154602	rs764341744	2.257e-05	2.257e-05	1.361e-05	3.163e-05	8.945e-05	1.61e-05	1.416e-05	2.985e-05	1.804e-05	0	8.945e-05	0	0	0.0001	0	1.169e-05	6.623e-05	4.637e-05	2.629e-05	2.627e-05	2.57e-05	2.692e-05	2.415e-05	8.14e-06	5.14e-06	.	.	2.415e-05	0	0	0	0	9.434e-05	0	0	0.0010	0	0.108	0.31235	T	0.219	0.26145	T	0.002	0.09854	B	0.002	0.06944	B	0.002361	0.36727	N	0.325533	0.971206	0.40015	D	0.83	0.20963	L	0.72	0.51228	T	0.01	0.06868	N	0.102	0.08506	-1.0815	0.07060	T	0.027	0.11707	T	10	0.060381323	0.07406	T	0.008353	0.22105	T	0.034	0.08419	0.217	0.13788	0.0675242888579	0.06100	0.38640634472319985	0.38555	0.196582013559	0.22022	0.309553444386	0.11839	T	0.031402	0.22025	T	-0.28905	0.09731	T	-0.450323	0.27661	T	0.0259100020439622	0.01394	T	0.70183	0.31167	T	0.035081	0.04062	0.049902227	0.07721	0.035081	0.04062	0.049902227	0.07720	-4.587	0.32008	T	.	.	0.065	0.02702	B	.;.	.;.	1.053710	0.14351	10.93	0.97344410195751518	0.33491	0.22974	0.21924	N	AEFBCI	0.118232	0.23128	N	-0.743387112023824	0.14815	0.7411395	-0.673647452440449	0.17621	0.9377921	0.999741245429668	0.42466	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	5.65	1.71	0.23429	0.696000	0.25220	0.802000	0.21668	-0.171000	0.11205	0.408000	0.26234	0.247000	0.23892	0.403000	0.26849	0.1667:0.4735:0.0:0.3598	3.618	0.07627	219	0.91485	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2174.98	33	chr6	43512208	.	C	T	2174.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=850;ExcessHet=0.0000;FS=1.370;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.88;ReadPosRankSum=0.882;SOR=0.562	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1284	20	0	1	0
chr6	43553416	43553416	A	G	exonic	XPO5	.	nonsynonymous SNV	XPO5:NM_020750:exon14:c.T1529C:p.L510S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.0	B	0.001	B	0.015	N	0.620	N	0.725	N	-0.59	T	-1.051	T	0.086	T	0.418	2.407	14.01	4.44	2.116	2.696	4.108	0.246	0.00614673704469	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs918045040	4.817e-06	5.473e-06	5.47e-06	4.156e-06	5.416e-06	2e-06	1.29e-06	1.95e-06	1.28e-06	0	0	0	0	0	0	5.416e-06	1.663e-05	0	2.629e-05	2.627e-05	3.855e-05	1.345e-05	2.94e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0.0005	0	0.049	0.39820	D	0.205	0.27145	T	0.0	0.02946	B	0.001	0.04355	B	0.014884	0.28400	N	0.374411	0.620042	0.30788	N	0.695	0.17993	N	-0.59	0.71543	T	-3.76	0.71276	D	0.357	0.39861	-1.0509	0.14147	T	0.086	0.33578	T	10	0.24167225	0.41349	T	0.006147	0.16111	T	0.246	0.55340	0.551	0.66716	0.318725805183	0.31479	0.5481017413941294	0.54736	0.527734072401	0.50377	0.400847673416	0.25187	T	0.365502	0.73091	T	-0.0343083	0.46788	T	-0.287058	0.46078	T	0.40423721075058	0.29101	T	0.638236	0.25169	T	0.35169512	0.57198	0.24354513	0.49800	0.35169512	0.57198	0.24354513	0.49799	-10.685	0.77902	D	.	.	0.162	0.35767	B	.	.	3.207423	0.43650	21.8	0.9933972776342973	0.60131	0.88373	0.48271	D	AEFBI	0.176315	0.30352	N	-0.140480786579472	0.35641	2.049767	0.057691036119573	0.42444	2.567377	0.552085577578993	0.21342	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	4.44	0.53164	2.729000	0.46998	9.237000	0.79396	0.749000	0.86810	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.6405:0.2149:0.1446:0.0	4.108	0.09518	219	0.91485	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1061.98	35	chr6	43553416	.	A	G	1061.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.914e+00;DP=822;ExcessHet=0.0000;FS=2.247;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.05;ReadPosRankSum=-1.247e+00;SOR=0.578	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1231	20	0	1	0
chr6	43603942	43603942	T	C	exonic	POLH	.	nonsynonymous SNV	POLH:NM_001291969:exon5:c.T443C:p.I148T	Xeroderma pigmentosum, variant type, Autosomal recessive	.	0	1500	22	0	0	22	0.00727995	.	.	896387	not_provided|Xeroderma_pigmentosum|Xeroderma_pigmentosum_variant_type	MedGen:C3661900|MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910|MONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750,Orphanet:90342	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.3	T	0.867	P	0.269	B	0.066	N	0.971	D	0.805	L	-0.84	T	-0.839	T	0.151	T	0.399	3.859	19.60	5.62	2.131	7.427	15.481	0.439	0.0370857502828	0.0005	0.000798722	0.0011	9.612e-05	0.0003	0.0001	0.0002	0.0009	0.0011	0.0041	0.0010414	161	154602	rs147712217	0.0013	0.0013	0.0012	0.0014	0.0049	0.0013	0.0012	0.0045	0.0044	0.0002	0.0004	0.0003	2.52e-05	0.0002	0.0012	0.0012	0.0012	0.0049	0.0007	0.0007	0.0007	0.0007	0.0050	0.0006	0.0006	0.0034	0.0029	0.0002	0	0.0009	0	0.0004	0	0.0034	0.0008	0.0009	0.0050	0.009	0.57480	D	0.016	0.67890	D	0.867	0.47667	P	0.269	0.39840	B	0.066056	0.21837	N	0.460473	0.953	0.38846	D	1.34	0.33385	L	-0.84	0.74265	T	-3.12	0.63782	D	0.552	0.66873	-0.8393	0.52693	T	0.151	0.47962	T	10	0.013476521	0.00286	T	0.037086	0.57399	D	0.439	0.74306	.	.	0.894541215783	0.89349	0.6475634784784758	0.64691	0.40514499607	0.41401	0.297665178776	0.10053	T	0.365346	0.73078	T	-0.27801	0.10879	T	-0.171852	0.57273	T	0.0428584178205695	0.04212	T	0.859214	0.57956	D	0.4660157	0.65045	0.2937161	0.55400	0.5146165	0.67949	0.33418176	0.59246	-7.488	0.58171	T	.	.	0.136	0.29642	B	.;.	.;.	4.530419	0.71121	25.6	0.99784373698370799	0.87043	0.98551	0.83998	D	AEFBI	0.757867	0.69669	D	0.19781104852497	0.51094	3.293443	0.291114204816552	0.55020	3.665534	0.999999997008656	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.65145	0.50148	0	0.735409	0.98432	0	.	.	5.62	5.62	0.85714	7.459000	0.79833	7.896000	0.73301	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.809000	0.38129	0.0:0.0:0.0:1.0	15.481	0.75260	229	0.91079	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	939.98	34	chr6	43603942	.	T	C	939.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=791;ExcessHet=0.0000;FS=1.621;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.13;ReadPosRankSum=0.677;SOR=0.714	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1210	20	0	1	0
chr6	43614449	43614451	TCA	-	exonic	POLH	.	nonframeshift deletion	POLH:NM_001291969:exon9:c.1662_1664del:p.H555del	Xeroderma pigmentosum, variant type, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	rs868200662	2.736e-06	2.736e-06	2.723e-06	2.75e-06	0.0001	6.4e-07	4.3e-07	3.982e-05	2.373e-05	0.0001	0	0	0	0	0	0	0	0	1.971e-05	1.97e-05	2.569e-05	1.345e-05	7.237e-05	5.24e-06	2.45e-06	1.919e-05	1.032e-05	7.237e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1506.94	36	chr6	43614448	.	CTCA	C	1506.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.407;DP=768;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.92;ReadPosRankSum=0.366;SOR=0.785	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1155	20	0	1	0
chr6	44229406	44229406	C	T	exonic	SLC29A1	.	nonsynonymous SNV	SLC29A1:NM_001304465:exon3:c.C124T:p.L42F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.956	P	0.785	P	0.000	D	0.992	D	0.93	L	-0.64	T	-0.812	T	0.190	T	0.424	2.585	14.60	4.45	1.216	0.876	8.891	0.199	0.0270842663741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.20835	T	0.239	0.24477	T	0.722	0.42387	P	0.21	0.37304	B	0.000291	0.46274	D	0.141721	0.992018	0.41532	D	1.12	0.28775	L	-0.64	0.72125	T	-1.54	0.37375	N	0.57	0.59563	-0.8125	0.54399	T	0.190	0.54108	T	10	0.2805399	0.45630	T	0.027084	0.49938	D	0.199	0.48268	.	.	0.289027227714	0.28505	.	.	0.314550106018	0.33734	0.57654607296	0.49599	T	0.247412	0.61705	T	-0.0159197	0.49434	T	-0.260644	0.48761	T	0.780354142189026	0.45072	D	0.80002	0.44873	T	0.25879025	0.48930	0.16195175	0.37644	0.25879025	0.48930	0.16195175	0.37643	-6.311	0.48809	T	0.2968931265094968	0.39397	0.101	0.35477	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.476885	0.48538	22.6	0.99733818646622996	0.82975	0.86155	0.45383	D	AEFBI	0.483729	0.52405	N	0.104427770763267	0.46670	2.903757	0.164691005738116	0.47925	3.015602	0.999980561748904	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	4.45	0.53365	1.246000	0.32405	1.800000	0.28874	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1479:0.7746:0.0:0.0775	8.891	0.34594	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3889	1304.96	82	chr6	44229406	.	C	T	1304.96	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-2.959e+00;DP=2294;ExcessHet=14.4320;FS=177.510;InbreedingCoeff=-0.6006;MLEAC=16;MLEAF=0.444;MQ=60.00;MQRankSum=0.00;QD=0.83;ReadPosRankSum=1.16;SOR=12.393	GT:AD:DP:GQ:PL	0/0:105,0:105:5:0,5,1866	4	0	14	3
chr6	44275648	44275648	C	A	exonic	TMEM151B	.	nonsynonymous SNV	TMEM151B:NM_001137560:exon3:c.C822A:p.H274Q,	.	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.119	B	0.026	B	0.000	D	1.000	D	0.85	L	.	.	-1.091	T	0.055	T	0.77	2.747	15.15	1.9	0.272	1.069	8.174	0.182	0.0171872977659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.433e-06	6.156e-06	0	1.304e-05	0.0012	3.03e-06	2.19e-06	0.0006	0.0004	0	0	0	0	0	0.0012	1.854e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.18626	T	0.202	0.27414	T	0.119	0.26641	B	0.026	0.20792	B	0.000000	0.84330	D	0.000000	0.995609	0.81001	D	1.475	0.37068	L	.	.	.	-2.58	0.55662	D	0.712	0.71498	-1.0908	0.05400	T	0.055	0.23148	T	9	0.3294751	0.50200	T	0.017187	0.38787	T	0.182	0.45420	0.468	0.54052	0.0401082797425	0.02173	0.8921887745522741	0.89188	.	.	0.882853507996	0.94342	D	0.109367	0.42317	T	0.141945	0.68510	D	-0.0338819	0.68111	D	0.862471461296082	0.51278	D	0.788521	0.42806	T	0.4537001	0.64275	0.2534418	0.50992	0.4537001	0.64276	0.2534418	0.50991	-8.717	0.65857	D	.	.	0.908	0.83309	P	.	.	2.107877	0.26822	17.25	0.98056870045640554	0.37913	0.88881	0.49027	D	AEFDBI	0.453091	0.50637	N	-0.385277778945592	0.25993	1.41522	-0.25969925631905	0.29438	1.649315	0.981319633254614	0.30246	0.740716	0.97744	0	0.610034	0.51514	0	0.0	0.00061	3	0.63947	0.58350	0	.	.	4.74	1.9	0.24770	0.820000	0.26979	0.771000	0.21396	0.522000	0.23927	1.000000	0.71638	0.999000	0.35428	0.999000	0.91618	0.0:0.677:0.0:0.323	8.174	0.30433	592	0.68746	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3204.98	37	chr6	44275648	.	C	A	3204.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.689;DP=981;ExcessHet=0.0000;FS=1.549;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.30;ReadPosRankSum=-1.493e+00;SOR=0.801	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,117,1243	20	0	1	0
chr6	44305114	44305114	C	G	exonic	AARS2	.	nonsynonymous SNV	AARS2:NM_020745:exon11:c.G1519C:p.V507L,	Combined oxidative phosphorylation deficiency 8, Autosomal recessive;Leukoencephalopathy, progressive, with ovarian failure, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	266175	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.25	T	0.018	B	0.039	B	0.004	N	1.000	D	1.24	L	-0.1	T	-1.084	T	0.072	T	0.08	1.936	12.43	0.986	0.110	0.103	6.241	0.040	0.0118770163491	.	0.000399361	3.296e-05	0	0	0.0003	0	1.5e-05	0	0	3.88e-05	6	154602	rs182596701	5.473e-06	5.472e-06	2.723e-06	8.251e-06	0.0002	2.35e-06	1.7e-06	8.198e-05	5.784e-05	0	0	0	0.0002	0	0	8.993e-07	0	0	2.626e-05	2.624e-05	1.285e-05	4.027e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0	0.321	0.13522	T	0.231	0.25061	T	0.018	0.17786	B	0.039	0.23607	B	0.003754	0.34535	N	0.277539	0.955672	0.81001	D	1.32	0.33002	L	-0.1	0.64264	T	-1.74	0.41239	N	0.095	0.07535	-1.0838	0.06628	T	0.072	0.29098	T	10	0.020444691	0.00471	T	0.011877	0.29939	T	0.040	0.10527	0.45	0.51121	0.524584940466	0.52104	0.5340116045202374	0.53326	0.235666090612	0.26095	0.332209199667	0.15268	T	0.125078	0.45055	T	-0.430707	0.01468	T	-0.536448	0.18647	T	0.0508620247647817	0.05651	T	0.848015	0.52922	T	0.046427928	0.07767	0.05191496	0.08450	0.046427928	0.07767	0.05191496	0.08450	-3.38	0.14788	T	.	.	0.109	0.20934	B	.	.	1.034402	0.14145	10.72	0.96221837557056111	0.29088	0.12682	0.17416	N	AEFDGBHCI	0.202684	0.32926	N	-0.607302768717073	0.18723	0.9743992	-0.549154972637436	0.20829	1.123982	0.999999978194986	0.74766	0.712529	0.81865	0	0.702456	0.74545	0	0.67197	0.60751	0	0.691587	0.68394	0	.	.	5.01	0.986	0.18902	0.061000	0.14242	0.428000	0.18294	0.580000	0.29708	0.002000	0.15269	0.094000	0.22579	0.881000	0.42162	0.0:0.5324:0.2498:0.2178	6.241	0.20000	803	0.44167	Alanyl-tRNA synthetase, class IIc, N-terminal|Alanyl-tRNA synthetase, class IIc, core domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	928.98	33	chr6	44305114	.	C	G	928.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.400e-02;DP=799;ExcessHet=0.0000;FS=1.685;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.88;ReadPosRankSum=-3.400e-02;SOR=0.664	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr6	44368461	44368461	C	A	exonic	SPATS1	.	nonsynonymous SNV	SPATS1:NM_001372081:exon6:c.C657A:p.H219Q	.	.	.	.	.	.	.	.	.	.	.	2369774	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.986	D	0.663	P	0.922	N	1.000	N	1.905	M	0.41	T	-1.006	T	0.122	T	0.461	1.742	11.78	3.34	0.673	1.304	7.990	0.275	0.0246904774307	0.0002	0.000399361	0.0001	0.0013	0	0	0	0	0	0	0.0001035	16	154602	rs184407816	4.449e-05	4.446e-05	4.631e-05	4.265e-05	0.0016	3.577e-05	3.259e-05	0.0013	0.0012	0.0016	2.237e-05	0	0	0	0	0	0.0001	1.161e-05	0.0005	0.0005	0.0004	0.0005	0.0016	0.0004	0.0003	0.0013	0.0012	0.0016	0	6.537e-05	0	0	0	0	0	0.0005	0	0.02	0.49613	D	0.061	0.45530	T	0.986	0.61523	D	0.663	0.52893	P	0.922023	0.08480	N	0.954407	0.998727	0.21957	N	2.175	0.60977	M	0.41	0.57100	T	-5.53	0.86073	D	0.632	0.64563	-1.0065	0.28004	T	0.122	0.42251	T	10	0.13249847	0.25218	T	0.02469	0.47677	T	0.275	0.59130	0.156	0.05964	0.398283496042	0.39440	0.30625125368054995	0.30538	0.672420561845	0.59524	0.396240800619	0.24546	T	0.111235	0.42656	T	-0.373812	0.03406	T	-0.339811	0.40365	T	0.201166831564868	0.20480	T	0.616438	0.23595	T	0.22553611	0.45216	0.24150905	0.49550	0.22553611	0.45216	0.24150905	0.49549	-2.79	0.08092	T	.	.	0.604	0.70081	P	.;.	.;.	3.053180	0.40972	21.3	0.98481138850098804	0.41978	0.74150	0.36270	D	AEFBI	0.155862	0.28113	N	0.0142896974689647	0.42505	2.56228	-0.0574464813711889	0.37170	2.172734	0.0863680229057145	0.16007	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.11	3.34	0.37357	1.291000	0.32936	0.912000	0.22635	-0.176000	0.10722	0.998000	0.41325	0.999000	0.35428	0.178000	0.21234	0.0:0.8124:0.0:0.1876	7.990	0.29394	644	0.63734	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1571.98	33	chr6	44368461	.	C	A	1571.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=850;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.79;ReadPosRankSum=-1.240e+00;SOR=0.661	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1386	20	0	1	0
chr6	45422694	45422714	CAGCAGCAGCAGCAACAGCAG	-	exonic	RUNX2	.	nonframeshift deletion	RUNX2:NM_001278478:exon1:c.118_138del:p.Q51_Q57del	Cleidocranial dysplasia, Autosomal dominant;Cleidocranial dysplasia, forme fruste, dental anomalies only, Autosomal dominant;Cleidocranial dysplasia, forme fruste, with brachydactyly, Autosomal dominant;Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, Autosomal dominant	.	1	1502	4	0	15	19	0.00132979	.	.	193463	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.0004	0.0013	0.0012	0.0006	0.0018	0.0012	0.0004	0.0003074	8	26028	rs1159091308	0.0014	0.0014	0.0013	0.0014	0.0015	0.0013	0.0013	0.0015	0.0015	0.0006	0.0007	0.0001	0.0009	0.0015	0.0011	0.0015	0.0017	0.0004	0.0016	0.0016	0.0018	0.0013	0.0026	0.0014	0.0013	0.0022	0.0021	0.0010	0	0.0007	0	0.0004	0.0007	0	0.0026	0.0010	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1234.94	37	chr6	45422693	.	ACAGCAGCAGCAGCAACAGCAG	A	1234.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.390;DP=900;ExcessHet=0.0000;FS=2.823;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=0.346;SOR=0.454	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1511	20	0	1	0
chr6	45422775	45422783	GCGGCGGCT	-	exonic	RUNX2	.	nonframeshift deletion	RUNX2:NM_001278478:exon1:c.199_207del:p.A73_A75del	Cleidocranial dysplasia, Autosomal dominant;Cleidocranial dysplasia, forme fruste, dental anomalies only, Autosomal dominant;Cleidocranial dysplasia, forme fruste, with brachydactyly, Autosomal dominant;Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1253741091	0	6.848e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	13028.27	37	chr6	45422774	.	GGCGGCGGCT	AGCGGCGGCT,G	13028.27	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-2.600e-02;DP=1348;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=17.82;ReadPosRankSum=2.23;SOR=0.665	GT:AD:DP:GQ:PL	0/0:38,0,0:38:99:0,108,1511,108,1511,1511	16	1	3	0
chr6	46140371	46140371	T	C	exonic	ENPP4	.	nonsynonymous SNV	ENPP4:NM_014936:exon2:c.T788C:p.I263T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.571	P	0.403	B	0.009	N	1.000	D	1.37	L	-0.73	T	-0.668	T	0.220	T	0.315	3.643	18.52	5.67	2.164	7.484	15.920	0.337	0.0303874404899	0.0002	.	3.478e-05	0	8.895e-05	0	0	4.641e-05	0	0	3.23e-05	5	154602	rs370794447	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	9.945e-05	0.0001	0.0001	3.069e-05	0.0002	0	0	0	0	0.0001	6.702e-05	3.621e-05	7.92e-05	7.887e-05	6.45e-05	9.461e-05	0.0002	4.515e-05	3.527e-05	5.867e-05	4.257e-05	2.42e-05	0	6.598e-05	0	0.0002	0	0	0.0001	0.0005	0	0.002	0.72154	D	0.156	0.31833	T	0.571	0.38591	P	0.403	0.44588	B	0.008689	0.30716	N	0.359891	0.999854	0.49910	D	1.64	0.41913	L	-0.73	0.73100	T	-2.71	0.57762	D	0.437	0.47580	-0.6685	0.61897	T	0.220	0.58306	T	10	0.3875548	0.54653	T	0.030387	0.52709	D	0.337	0.65913	.	.	0.798057565678	0.79617	0.759411696450155	0.75889	0.141411337327	0.15943	0.48231112957	0.36375	T	0.092999	0.39120	T	-0.187568	0.22617	T	-0.211012	0.53598	T	0.221240610639094	0.21526	T	0.965603	0.87267	D	0.5092817	0.67637	0.4985677	0.71007	0.5092817	0.67638	0.4985677	0.71007	-5.965	0.45986	T	.	.	0.088	0.11701	B	.	.	3.989335	0.58697	24.0	0.99794285951351858	0.87928	0.99659	0.98423	D	AEFGBI	0.864432	0.78323	D	0.364779870462901	0.59523	4.132557	0.46898975583836	0.65944	4.888382	0.999999999705979	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.67	5.67	0.87673	7.674000	0.83146	7.903000	0.73657	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	15.920	0.79349	546	0.72524	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	765.98	39	chr6	46140371	.	T	C	765.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.92;DP=841;ExcessHet=0.0000;FS=1.097;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.26;ReadPosRankSum=-2.500e-02;SOR=1.003	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1575	20	0	1	0
chr6	46167658	46167658	G	A	exonic	ENPP5	.	nonsynonymous SNV	ENPP5:NM_001290073:exon2:c.C323T:p.P108L	.	.	436	1081	5	0	0	5	0.00230734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.029	B	0.037	B	0.001	D	1.000	D	2.45	M	-0.82	T	-0.533	T	0.285	T	0.294	2.630	14.75	5.33	2.652	5.360	14.275	0.315	0.0398622543945	7.7e-05	0.00159744	0.0015	0.0002	0.0006	0.0009	0	2.998e-05	0	0.0096	0.0012548	194	154602	rs139905945	0.0005	0.0005	0.0003	0.0008	0.0080	0.0005	0.0005	0.0075	0.0073	0.0002	0.0001	0	0.0007	0	0.0005	2.338e-05	0.0006	0.0080	0.0004	0.0004	0.0003	0.0004	0.0087	0.0003	0.0003	0.0066	0.0059	9.627e-05	0	0.0002	0	0.0006	0	0	2.94e-05	0	0.0087	0.037	0.43085	D	0.217	0.26145	T	0.029	0.19866	B	0.037	0.23121	B	0.000687	0.42383	D	0.238651	0.999963	0.52935	D	3.23	0.89537	M	-0.82	0.74053	T	-4.47	0.77881	D	0.199	0.21969	-0.5335	0.67409	T	0.285	0.65715	T	10	0.008126974	0.00184	T	0.039862	0.59054	D	0.315	0.63694	.	.	0.610954812703	0.60782	0.6821739577454536	0.68156	0.353275756154	0.37135	0.448787242174	0.31778	T	0.055201	0.29940	T	-0.319655	0.06926	T	-0.225965	0.52161	T	0.113652769331207	0.13798	T	0.693131	0.30283	T	0.37564963	0.59000	0.29808912	0.55842	0.37564963	0.59000	0.29808912	0.55841	-6.433	0.49767	T	.	.	0.082	0.10931	B	.;.	.;.	4.107269	0.61286	24.3	0.99490322937273845	0.67403	0.95750	0.65995	D	AEFBI	0.655147	0.62758	D	0.225274053045651	0.52426	3.416885	0.35672192929733	0.58914	4.065045	0.382982185895216	0.19977	0.706548	0.73137	0	0.627178	0.54094	0	0.724815	0.87919	0	0.530356	0.10902	0	.	.	5.33	5.33	0.75683	4.665000	0.61241	5.943000	0.51513	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:0.8513:0.1486	14.275	0.65726	834	0.38640	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2455.98	120	chr6	46167658	.	G	A	2455.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.66;DP=1024;ExcessHet=0.0000;FS=1.969;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.16;ReadPosRankSum=-1.940e-01;SOR=0.907	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1398	20	0	1	0
chr6	46688994	46688994	G	C	exonic	TDRD6	.	nonsynonymous SNV	TDRD6:NM_001010870:exon1:c.G866C:p.G289A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.026	B	0.027	B	0.036	N	1.000	N	0.895	L	3.13	T	-0.947	T	0.006	T	0.018	-3.132	0.001	-4.01	-0.539	-0.288	12.989	0.052	0.00169885513599	.	.	8.367e-06	0	0	0	0	1.518e-05	0	0	6.5e-06	1	154602	rs752265968	2.053e-06	2.052e-06	1.362e-06	2.751e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.722	0.03972	T	1.0	0.01155	T	0.026	0.19406	B	0.027	0.21085	B	0.035671	0.01806	N	2.145470	1	0.08975	N	1.15	0.29295	L	3.13	0.08014	T	0.01	0.06868	N	0.032	0.01911	-0.9472	0.41448	T	0.006	0.01870	T	10	0.050587714	0.04812	T	0.001699	0.02830	T	0.052	0.14661	0.221	0.14371	0.101711395817	0.09552	0.31992137400331105	0.31905	0.0309867176458	0.03205	0.265254259109	0.05533	T	0.022983	0.17620	T	-0.446327	0.01187	T	-0.863409	0.00807	T	0.0416120099706881	0.03984	T	0.617538	0.23656	T	0.031967744	0.03133	0.052076053	0.08507	0.031967744	0.03133	0.052076053	0.08507	-3.831	0.21268	T	.	.	0.081	0.08368	B	.;.	.;.	-0.093148	0.03683	0.745	0.59206385968025088	0.06170	0.10184	0.15760	N	AEFDBI	0.077619	0.15643	N	-1.53264214718695	0.01639	0.07165517	-1.56833697077555	0.01853	0.08442671	6.99180599129081E-4	0.07645	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.34	-4.01	0.03775	-0.076000	0.11374	-0.129000	0.11639	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.166000	0.20848	0.0:0.6478:0.1599:0.1923	12.989	0.58013	508	0.75398	.;Tudor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1632.98	33	chr6	46688994	.	G	C	1632.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.57;DP=1048;ExcessHet=0.0000;FS=4.263;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.17;ReadPosRankSum=-4.030e-01;SOR=0.942	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	20	0	1	0
chr6	46689536	46689536	G	A	exonic	TDRD6	.	nonsynonymous SNV	TDRD6:NM_001010870:exon1:c.G1408A:p.D470N	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.9	P	0.371	B	0.140	N	1.000	N	0.69	N	2.47	T	-1.005	T	0.013	T	0.023	0.825	8.323	5.82	2.745	2.901	12.537	0.109	.	7.7e-05	0.0153754	0.0059	0.0002	0	0.0768	0	5.996e-05	0.0033	0.0023	0.0054721	846	154602	rs142765925	0.0018	0.0018	0.0018	0.0018	0.0494	0.0017	0.0017	0.0476	0.0469	0.0002	8.944e-05	0.0002	0.0494	0	0.0002	4.137e-05	0.0053	0.0029	0.0031	0.0031	0.0028	0.0033	0.0733	0.0028	0.0027	0.0672	0.0648	0.0003	0	0.0012	0.0012	0.0733	0	0	0.0001	0.0043	0.0071	0.059	0.37536	T	0.11	0.37449	T	0.839	0.46454	P	0.205	0.37080	B	0.140009	0.18323	N	0.591327	1	0.08975	N	1.59	0.40313	L	2.47	0.14783	T	-0.64	0.18670	N	0.176	0.18920	-1.0048	0.28517	T	0.013	0.05321	T	10	0.0025939047	0.00040	T	.	.	.	0.109	0.30843	.	.	0.527356302626	0.52384	0.2332353423243683	0.23238	0.0514255740683	0.05660	0.302000582218	0.10699	T	0.048007	0.27891	T	-0.737276	0.00022	T	-0.765879	0.02906	T	0.0391045540544767	0.03528	T	0.813419	0.46649	T	0.080301896	0.18392	0.07138637	0.15281	0.080301896	0.18391	0.07138637	0.15281	-4.16	0.26170	T	.	.	0.083	0.09143	B	.;.	.;.	2.691980	0.35142	19.82	0.99470250869973698	0.66312	0.30886	0.24197	N	AEFDBI	0.171086	0.29803	N	-0.0934038008132409	0.37680	2.195812	-0.0587741419455164	0.37112	2.168697	0.966806520581125	0.28930	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.82	5.82	0.92740	3.024000	0.49358	5.742000	0.49579	0.676000	0.76740	0.327000	0.25564	1.000000	0.68203	0.923000	0.45890	0.0:0.0:0.8337:0.1663	12.537	0.55492	513	0.74941	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2499.98	99	chr6	46689536	.	G	A	2499.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.600e-01;DP=1894;ExcessHet=0.0000;FS=1.134;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=2.29;SOR=0.595	GT:AD:DP:GQ:PL	0/0:88,0:88:99:0,120,1800	20	0	1	0
chr6	46692984	46692984	C	T	exonic	TDRD6	.	nonsynonymous SNV	TDRD6:NM_001010870:exon1:c.C4856T:p.A1619V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.584	P	0.186	B	0.463	N	1.000	N	0.53	N	2.92	T	-0.927	T	0.005	T	0.091	1.802	11.99	-0.713	-0.348	-0.033	6.806	0.078	0.00771466727935	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1481894613	4.109e-06	4.104e-06	4.087e-06	4.131e-06	0.0003	1.48e-06	9.7e-07	6.103e-05	2.525e-05	0	2.243e-05	0	0	0	0.0003	2.7e-06	0	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.28	0.15561	T	0.244	0.24264	T	0.584	0.38894	P	0.186	0.36104	B	0.463120	0.12367	N	0.777702	1	0.08975	N	0.6	0.15550	N	2.92	0.09915	T	-0.79	0.21860	N	0.072	0.05929	-0.9272	0.44545	T	0.005	0.01833	T	10	0.057795346	0.06694	T	0.007715	0.20457	T	0.078	0.22779	0.511	0.60846	0.0401082797425	0.02173	0.23356050399011594	0.23271	0.0307955421542	0.03189	0.239072114229	0.02707	T	0.029406	0.21077	T	-0.362627	0.03983	T	-0.758665	0.03160	T	0.140900952186794	0.16353	T	0.728227	0.34274	T	0.03804051	0.04993	0.048212837	0.07112	0.03804051	0.04992	0.048212837	0.07112	-3.631	0.19052	T	.	.	0.091	0.12938	B	.;.	.;.	0.950055	0.13263	9.762	0.97569913491160642	0.34675	0.08759	0.14641	N	AEFBI	0.151563	0.27607	N	-0.747690260010937	0.14696	0.7342593	-0.716180290994406	0.16559	0.8765038	1.24221739813442E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.87	-0.713	0.10657	-0.019000	0.12487	0.438000	0.18395	-0.233000	0.07663	0.000000	0.06391	0.025000	0.21018	0.941000	0.48210	0.3515:0.387:0.2615:0.0	6.806	0.22963	553	0.71930	.;Tudor domain|Tudor domain|Tudor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1644.98	52	chr6	46692984	.	C	T	1644.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.019e+00;DP=1274;ExcessHet=0.0000;FS=0.673;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=1.46;SOR=0.593	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	20	0	1	0
chr6	46752096	46752096	T	C	exonic	ANKRD66	.	nonsynonymous SNV	ANKRD66:NM_001162435:exon3:c.T313C:p.W105R,	.	.	432	1085	5	0	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.000199681	0.0032	0.0015	0	0	0	0.0025	0.0169	0.0070	0.0006274	97	154602	rs199749836	0.0031	0.0029	0.0031	0.0032	0.0033	0.0030	0.0030	0.0032	0.0032	0.0004	0.0004	0	3.153e-05	0.0065	0.0004	0.0033	0.0023	0.0028	0.0022	0.0022	0.0022	0.0022	0.0031	0.0020	0.0019	0.0027	0.0026	0.0006	0	0.0005	0	0.0004	0.0077	0.0068	0.0031	0.0014	0.0010	0.005	0.63226	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	0.999529	0.47407	D	0.58	0.15352	N	-0.09	0.64086	T	-11.14	0.99354	D	0.865	0.86191	.	.	.	.	.	.	.	0.03628838	0.01920	T	.	.	.	.	.	.	.	0.800053774975	0.79818	0.8473007381577435	0.84691	.	.	0.709243655205	0.68484	T	0.040442	0.25529	T	-0.0417315	0.45692	T	0.165806	0.81157	D	.	.	.	0.859714	0.55187	D	0.74800014	0.80752	0.793415	0.87858	0.74800014	0.80754	0.793415	0.87859	-11.277	0.81156	D	.	.	0.974	0.90004	P	.	.	5.022454	0.83484	28.1	0.99501672516220485	0.68089	0.99053	0.90538	D	AEFI	0.838706	0.75619	D	.	.	.	.	.	.	0.999857704407567	0.44174	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.56	5.56	0.83678	7.183000	0.77236	7.711000	0.66806	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.536	0.67551	729	0.54495	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	962.98	34	chr6	46752096	.	T	C	962.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.884e+00;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=0.068;SOR=0.701	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1334	20	0	1	0
chr6	47010050	47010050	C	G	exonic	ADGRF1	.	nonsynonymous SNV	ADGRF1:NM_153840:exon11:c.G1385C:p.G462A,	.	.	430	1064	27	1	0	29	0.0134446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.618	P	0.101	B	0.001	D	1.000	D	2.32	M	1.35	T	-1.066	T	0.053	T	0.176	2.542	14.46	4.32	1.296	1.372	16.104	0.158	0.0148596975298	0.0058	0.00159744	0.0040	0.0006	0.0011	0	0.0006	0.0064	0.0033	0.0021	0.0041203	637	154602	rs45461593	0.0054	0.0054	0.0055	0.0054	0.0158	0.0053	0.0053	0.0132	0.0122	0.0007	0.0023	0.0099	0	0.0005	0.0158	0.0062	0.0054	0.0032	0.0044	0.0044	0.0048	0.0039	0.0068	0.0041	0.0040	0.0063	0.0061	0.0016	0.0121	0.0041	0.0095	0.0002	0.0004	0.0102	0.0068	0.0057	0.0017	0.005	0.68238	D	0.143	0.39492	T	0.618	0.39878	P	0.101	0.30765	B	0.000886	0.41231	D	0.108197	0.928347	0.36892	D	.	.	.	1.35	0.34841	T	-5.13	0.83224	D	0.14	0.15469	-1.0658	0.10362	T	0.053	0.22539	T	10	0.003125757	0.00052	T	0.01486	0.35248	T	0.158	0.41098	.	.	0.252162846088	0.24830	0.5626145801708726	0.56188	0.0811084518359	0.09126	0.352576434612	0.18300	T	0.067042	0.37257	T	-0.490778	0.00643	T	-0.474995	0.24980	T	0.0738526429195159	0.09182	T	0.714229	0.32652	T	0.47816974	0.65789	0.45515832	0.68323	0.47816974	0.65790	0.45515832	0.68324	-4.273	0.27797	T	.	.	0.151	0.33342	B	.;.	.;.	1.918867	0.24368	16.37	0.99546258656753994	0.70836	0.55949	0.29993	D	AEFBCI	0.209860	0.33580	N	-0.229438254843676	0.31931	1.795477	-0.2679141333085	0.29162	1.63163	0.834347638524773	0.24750	0.525926	0.21836	0	0.59043	0.45803	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	5.2	4.32	0.50899	0.892000	0.27957	2.219000	0.31434	0.587000	0.30956	0.004000	0.16614	0.440000	0.24899	0.798000	0.37648	0.0:0.8659:0.1341:0.0	16.104	0.81014	810	0.42761	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2387.98	41	chr6	47010050	.	C	G	2387.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.294;DP=896;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=0.096;SOR=0.668	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1139	20	0	1	0
chr6	47286064	47286064	C	T	exonic	TNFRSF21	.	nonsynonymous SNV	TNFRSF21:NM_014452:exon2:c.G628A:p.V210I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.011	B	0.003	B	0.000	N	1.000	D	1.095	L	0.02	T	-1.067	T	0.070	T	0.085	2.264	13.53	1.91	0.432	-0.167	6.731	0.075	0.00771322339655	7.7e-05	.	2.471e-05	0	8.643e-05	0.0001	0	1.499e-05	0	0	3.88e-05	6	154602	rs138310721	3.01e-05	3.078e-05	2.859e-05	3.163e-05	5.038e-05	2.281e-05	2.032e-05	2.54e-05	2.224e-05	0	2.236e-05	0	5.038e-05	0	0	3.417e-05	0	3.478e-05	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.256	0.16793	T	0.162	0.31225	T	0.011	0.15914	B	0.003	0.08700	B	0.000006	0.62929	N	0.108004	0.999986	0.54805	D	1.115	0.28702	L	0.02	0.62318	T	0.11	0.05706	N	0.09	0.06854	-1.0665	0.10200	T	0.070	0.28609	T	10	0.091699034	0.16084	T	0.007713	0.20457	T	0.075	0.21907	.	.	0.110392049598	0.10638	0.3895023900043442	0.38865	0.226960107562	0.25244	0.276895016432	0.07063	T	0.309	0.68143	T	-0.377195	0.03244	T	-0.553889	0.16953	T	0.0557356403553317	0.06479	T	0.743326	0.36245	T	0.055186607	0.10690	0.059801664	0.11283	0.055186607	0.10690	0.059801664	0.11283	-3.781	0.20521	T	.	.	0.061	0.01161	B	.	.	0.790677	0.11611	8.199	0.97096056994622681	0.32345	0.25564	0.22736	N	AEFDBI	0.143502	0.26622	N	-0.710157384477086	0.15735	0.7956334	-0.60289688878029	0.19418	1.041738	0.0207127875484961	0.13284	0.706548	0.73137	0	0.610034	0.51514	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.68	1.91	0.24841	-0.082000	0.11268	-0.446000	0.09129	-0.252000	0.07121	0.001000	0.13787	0.000000	0.08366	0.980000	0.58198	0.0:0.6165:0.121:0.2625	6.731	0.22569	826	0.39940	TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|Tumor necrosis factor receptor 21, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2792.98	34	chr6	47286064	.	C	T	2792.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=860;ExcessHet=0.0000;FS=7.504;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.24;ReadPosRankSum=0.150;SOR=1.266	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1170	20	0	1	0
chr6	47595872	47595872	A	G	exonic	CD2AP	.	nonsynonymous SNV	CD2AP:NM_012120:exon12:c.A1120G:p.T374A,	Glomerulosclerosis, focal segmental, 3	.	39	1429	46	8	0	62	0.0212329	.	.	252386	Focal_segmental_glomerulosclerosis_3,_susceptibility_to|not_provided|Focal_segmental_glomerulosclerosis|not_specified	MONDO:MONDO:0011917,MedGen:C1842982,OMIM:607832,Orphanet:656|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.81	T	0.0	B	0.0	B	0.000	N	1.000	N	-0.69	N	1.93	T	-1.024	T	0.005	T	0.012	-0.075	3.633	-5.18	-0.673	-1.282	2.300	0.064	.	0.0037	0.00459265	0.0051	0.0006	0.0038	0.0001	0.0005	0.0047	0.0066	0.0144	0.0047283	731	154602	rs138727736	0.0057	0.0057	0.0053	0.0061	0.0235	0.0056	0.0055	0.0203	0.0190	0.0010	0.0034	0.0038	2.522e-05	0.0008	0.0235	0.0054	0.0064	0.0162	0.0037	0.0037	0.0039	0.0034	0.0127	0.0034	0.0033	0.0101	0.0092	0.0010	0	0.0039	0.0026	0.0002	0.0007	0.0136	0.0054	0.0038	0.0127	0.734	0.03764	T	0.768	0.04507	T	0.0	0.02946	B	0.0	0.01387	B	0.000133	0.00470	N	5.281300	1	0.08975	N	0.49	0.13296	N	1.93	0.22881	T	0.47	0.03090	N	0.022	0.00372	-1.0238	0.22476	T	0.005	0.01725	T	10	0.0028515756	0.00045	T	.	.	.	0.064	0.18567	.	.	0.245697971988	0.24196	0.09908005909316141	0.09839	0.0698928327422	0.07831	0.252346724272	0.04019	T	0.120612	0.44298	T	-0.731755	0.00023	T	-0.812215	0.01616	T	0.00027371578009483	0.00002	T	0.411359	0.10665	T	0.016423263	0.00197	0.024621101	0.00485	0.016423263	0.00196	0.024621101	0.00485	-3.697	0.19274	T	0.05373193896517889	0.01103	0.059	0.00780	B	.	.	-0.668481	0.01395	0.081	0.40246728981911517	0.02828	0.01291	0.04495	N	AEFDBI	0.016615	0.00385	N	-1.54185372631042	0.01582	0.06915053	-1.48142600781234	0.02496	0.1149244	0.750263743479207	0.23348	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	-5.18	0.02624	-1.211000	0.03106	-2.452000	0.03737	-0.274000	0.06627	0.000000	0.06391	0.000000	0.08366	0.872000	0.41544	0.4573:0.1057:0.271:0.166	2.300	0.03904	518	0.74548	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.04762	1836.08	34	chr6	47595872	.	A	G	1836.08	.	AC=2;AF=0.048;AN=42;DP=729;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.30;SOR=2.584	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1042	20	1	0	0
chr6	47714025	47714025	G	A	exonic	ADGRF4	.	nonsynonymous SNV	ADGRF4:NM_001347855:exon6:c.G780A:p.M260I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.003	B	0.004	B	0.348	N	1.000	N	1.04	L	1.53	T	-1.002	T	0.021	T	0.129	-0.375	2.236	2.22	0.673	0.948	4.387	0.003	0.00424529291119	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1373456842	8.239e-06	8.209e-06	6.827e-06	9.667e-06	7.056e-05	4.39e-06	3.47e-06	3.031e-05	2.061e-05	0	0	0	0	1.875e-05	0	3.604e-06	1.663e-05	7.056e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.37326	T	0.313	0.19539	T	0.003	0.11197	B	0.004	0.10090	B	0.347773	0.13863	N	0.723565	1	0.08975	N	.	.	.	1.53	0.35590	T	-2.35	0.51968	N	0.127	0.14196	-1.0022	0.29284	T	0.021	0.09056	T	10	0.049947232	0.04656	T	0.004245	0.10247	T	0.003	0.00094	0.37	0.38013	0.18995819373	0.18626	0.32038156066197143	0.31951	0.036658892525	0.03882	0.236790627241	0.02508	T	0.021242	0.16575	T	-0.344922	0.05054	T	-0.63029	0.10392	T	0.0385890816641491	0.03437	T	0.524848	0.17228	T	0.10071709	0.23784	0.13489667	0.32312	0.10071709	0.23783	0.13489667	0.32311	-1.31	0.01417	T	.	.	0.247	0.48198	B	.;.;.	.;.;.	0.457557	0.08275	5.018	0.55332093559321238	0.05320	0.09536	0.15270	N	AEFBI	0.049526	0.08566	N	-0.99200017442123	0.08774	0.4126748	-0.988498023457462	0.10043	0.5033705	0.0148827426643692	0.12650	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.19	2.22	0.27116	0.544000	0.22960	1.359000	0.25866	-0.119000	0.14319	0.004000	0.16614	0.006000	0.19429	0.052000	0.15357	0.2518:0.0:0.591:0.1573	4.387	0.10753	732	0.54084	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2372.98	67	chr6	47714025	.	G	A	2372.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.538e+00;DP=1674;ExcessHet=0.0000;FS=0.536;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=-2.560e-01;SOR=0.616	GT:AD:DP:GQ:PL	0/0:75,0:75:99:0,120,1800	20	0	1	0
chr6	47901935	47901935	C	G	exonic	PTCHD4	.	nonsynonymous SNV	PTCHD4:NM_207499:exon3:c.G908C:p.G303A,	.	.	429	1081	12	0	0	12	0.00551978	0.0001	0.014	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.006	B	0.019	B	0.000	D	1.000	N	1.15	L	-4.34	D	-0.273	T	0.560	D	0.477	1.178	9.791	0.005	-0.113	-0.169	5.926	0.339	.	.	0.00379393	0.0063	0.0012	0.0155	0	0.0056	0.0089	0.0099	0.0052	0.0022057	341	154602	rs17556966	0.0087	0.0070	0.0091	0.0084	0.0242	0.0086	0.0085	0.0227	0.0221	0.0014	0.0242	0.0088	7.797e-05	0.0043	0.0061	0.0092	0.0062	0.0043	0.0058	0.0058	0.0066	0.0050	0.0088	0.0055	0.0054	0.0082	0.0079	0.0017	0.0285	0.0071	0.0055	0.0004	0.0035	0	0.0088	0.0061	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1156.98	33	chr6	47901935	.	C	G	1156.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.420e-01;DP=774;ExcessHet=0.0000;FS=1.771;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=0.512;SOR=0.705	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1100	20	0	1	0
chr6	51659459	51659459	C	T	exonic	PKHD1	.	nonsynonymous SNV	PKHD1:NM_138694:exon61:c.G10667A:p.R3556H,	Polycystic kidney and hepatic disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.003	B	0.001	B	0.783	N	0.996	N	-0.205	N	-2.08	D	-0.952	T	0.146	T	0.147	0.574	7.100	-2.16	-0.331	-0.696	6.291	0.219	0.0188554925692	.	.	1.656e-05	0	0	0.0001	0	1.503e-05	0	0	1.94e-05	3	154602	rs756591563	3.353e-05	3.352e-05	3.404e-05	3.301e-05	3.958e-05	2.567e-05	2.312e-05	2.999e-05	2.671e-05	0	0	0	2.52e-05	0	0	3.958e-05	6.625e-05	0	3.289e-05	3.284e-05	5.143e-05	1.347e-05	7.353e-05	1.262e-05	7.99e-06	2.847e-05	1.859e-05	0	0	0	0	0	0	0	7.353e-05	0	0	0.399	0.10517	T	0.544	0.09621	T	0.003	0.11197	B	0.001	0.04355	B	0.783258	0.09454	N	0.902932	1	0.08975	N	0.41	0.12415	N	-2.08	0.86010	D	-1.08	0.28084	N	0.063	0.03502	-0.9523	0.40573	T	0.146	0.46985	T	10	0.088920265	0.15356	T	0.018855	0.41058	T	0.219	0.51417	.	.	0.679429151099	0.67670	0.41651437050136453	0.41567	0.0726573195972	0.08142	0.201699733734	0.00508	T	0.224853	0.58941	T	-0.269468	0.11815	T	-0.45572	0.27065	T	0.0114157386124134	0.00170	T	0.670833	0.27951	T	0.029418897	0.02434	0.03645938	0.03098	0.029418897	0.02434	0.03645938	0.03098	-3.849	0.21538	T	0.12580469417131396	0.12583	0.068	0.02670	B	.	.	0.191120	0.05771	2.215	0.74965691342008012	0.10894	0.02115	0.06256	N	AEFI	0.049797	0.08640	N	-1.03437812088848	0.07897	0.3684398	-0.984822253865702	0.10126	0.5080172	3.82220323387424E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.93	-2.16	0.06684	-0.671000	0.05351	-7.163000	0.01217	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.996000	0.76049	0.1989:0.4084:0.0:0.3927	6.291	0.20269	640	0.64132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2044.98	34	chr6	51659459	.	C	T	2044.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.065;DP=869;ExcessHet=0.0000;FS=2.703;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=-2.295e+00;SOR=0.540	GT:AD:DP:GQ:PL	0/1:87,81:168:99:2059,0,2189	20	0	1	0
chr6	52025360	52025360	C	T	exonic	PKHD1	.	nonsynonymous SNV	PKHD1:NM_138694:exon32:c.G4450A:p.A1484T	Polycystic kidney and hepatic disease, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	493120	not_provided|Autosomal_recessive_polycystic_kidney_disease	MedGen:C3661900|MONDO:MONDO:0009889,MeSH:D017044,MedGen:C0085548,Orphanet:731,Orphanet:8378	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.77	T	0.002	B	0.008	B	0.412	N	1.000	N	-1.24	N	-2.1	D	-0.846	T	0.075	T	0.056	0.285	5.544	-3.28	-0.133	-0.615	4.815	0.215	0.0306340220002	0.0002	0.000199681	4.145e-05	0.0004	8.654e-05	0	0	0	0	0	4.53e-05	7	154602	rs144905283	4.174e-05	4.173e-05	5.038e-05	3.302e-05	0.0013	3.311e-05	3.002e-05	0.0010	0.0009	0.0013	0.0001	0	0	0	0	1.799e-06	0.0001	0	0.0003	0.0003	0.0004	0.0003	0.0012	0.0003	0.0002	0.0009	0.0008	0.0012	0	0.0002	0	0	0	0	0	0	0	0.78	0.03289	T	1.0	0.01155	T	0.002	0.09854	B	0.001	0.13708	B	0.411809	0.12987	N	0.750850	1	0.08975	N	-0.945	0.01271	N	-2.1	0.87671	D	-0.47	0.17210	N	0.065	0.04547	-0.8458	0.52256	T	0.075	0.30335	T	10	0.017817289	0.00383	T	0.030634	0.52905	D	0.215	0.50805	.	.	0.581280949539	0.57799	0.19834101449503283	0.19751	0.0586537782296	0.06507	0.236583143473	0.02491	T	0.126816	0.45344	T	-0.516443	0.00461	T	-0.539239	0.18372	T	0.004966131444349	0.00053	T	0.541546	0.18382	T	0.032103617	0.03173	0.040385116	0.04352	0.026514502	0.01718	0.04287977	0.05206	-4.214	0.26954	T	0.08327343681140388	0.04480	0.064	0.01668	B	.;.	.;.	-0.619294	0.01519	0.097	0.75831361915125528	0.11228	0.01189	0.04253	N	AEFGBI	0.042774	0.06680	N	-1.4007629378744	0.02633	0.1165129	-1.27954527033694	0.04707	0.222687	0.0728189343758238	0.15613	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.61	-3.28	0.04721	-0.610000	0.05724	-0.156000	0.11370	-0.838000	0.02813	0.000000	0.06391	0.000000	0.08366	0.554000	0.30269	0.3299:0.3497:0.0:0.3204	4.815	0.12728	775	0.48401	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1565.98	34	chr6	52025360	.	C	T	1565.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.236e+00;DP=875;ExcessHet=0.0000;FS=0.668;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=-1.820e-01;SOR=0.826	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1091	20	0	1	0
chr6	52050268	52050268	C	A	exonic	PKHD1	.	nonsynonymous SNV	PKHD1:NM_138694:exon22:c.G2168T:p.R723L	Polycystic kidney and hepatic disease, Autosomal recessive	YES	0	1504	18	0	0	18	0.00594845	.	.	489852	Polycystic_kidney_disease_4|not_provided|Autosomal_recessive_polycystic_kidney_disease|not_specified	MONDO:MONDO:0033004,MedGen:C4540575,OMIM:263200|MedGen:C3661900|MONDO:MONDO:0009889,MeSH:D017044,MedGen:C0085548,Orphanet:731,Orphanet:8378|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.34	T	0.166	B	0.066	B	0.018	N	1.000	N	1.905	M	-2.23	D	-0.651	T	0.380	T	0.269	2.808	15.35	3.76	1.393	0.746	7.709	0.675	.	0.0002	0.00259585	0.0017	0	0.0003	0.0001	0	0.0004	0.0011	0.0109	0.0015136	234	154602	rs150597050	0.0009	0.0009	0.0006	0.0012	0.0095	0.0009	0.0008	0.0090	0.0088	0.0002	0.0005	0.0004	2.52e-05	0	0.0050	0.0003	0.0012	0.0095	0.0007	0.0007	0.0004	0.0009	0.0118	0.0006	0.0005	0.0094	0.0085	4.812e-05	0	0.0009	0.0009	0.0002	0	0.0034	0.0003	0	0.0118	0.146	0.27310	T	0.098	0.39040	T	0.166	0.28547	B	0.03	0.27432	B	0.017707	0.27656	N	0.350509	0.999973	0.18612	N	2.47	0.71715	M	-2.23	0.88689	D	-2.97	0.61865	D	0.385	0.43803	-0.6509	0.62675	T	0.380	0.73706	T	10	0.009211212	0.00208	T	.	.	.	0.675	0.88013	.	.	0.939329616413	0.93869	0.5591541257757603	0.55842	0.207378967458	0.23197	0.33388876915	0.15520	T	0.596522	0.87006	D	-0.345135	0.05041	T	-0.260577	0.48768	T	0.0422822293805266	0.04106	T	0.813119	0.46553	T	0.10096875	0.23847	0.12958515	0.31155	0.14519054	0.33293	0.119494885	0.28840	-2.226	0.04168	T	0.4385702297441543	0.52448	0.198	0.42097	B	.;.	.;.	2.233190	0.28512	17.82	0.99639591157535723	0.76571	0.20341	0.21005	N	AEFBCI	0.185016	0.31234	N	-0.20796241389764	0.32808	1.854306	-0.109429959064427	0.35008	2.020373	0.96279671775821	0.28647	0.487112	0.14033	0	0.563428	0.19063	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	5.64	3.76	0.42368	0.782000	0.26449	0.553000	0.19438	0.599000	0.40250	0.514000	0.27064	0.095000	0.22593	0.959000	0.51448	0.1341:0.7203:0.0:0.1456	7.709	0.27830	829	0.39537	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2016.98	39	chr6	52050268	.	C	A	2016.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.356;DP=925;ExcessHet=0.0000;FS=2.151;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.01;ReadPosRankSum=1.00;SOR=0.509	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr6	52283310	52283310	C	T	exonic	MCM3	.	nonsynonymous SNV	MCM3:NM_001366369:exon2:c.G175A:p.E59K	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.667	P	0.107	B	0.282	N	1.000	D	1.495	L	2.76	T	-0.968	T	0.012	T	0.81	3.202	16.72	4.9	2.536	7.237	18.252	0.192	0.0129547085762	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1475520607	4.105e-06	4.104e-06	4.084e-06	4.125e-06	0.0002	1.48e-06	9.7e-07	8.4e-07	5.7e-07	2.987e-05	0	0	0	0	0.0002	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.621	0.05293	T	0.717	0.06812	T	0.667	0.41107	P	0.107	0.31211	B	0.282459	0.14920	N	0.687859	1	0.81001	D	2.455	0.71248	M	2.76	0.11515	T	-0.7	0.19933	N	0.777	0.77507	-0.9684	0.37530	T	0.012	0.04558	T	10	0.61005783	0.67393	D	0.012955	0.31963	T	0.192	0.47115	0.387	0.40788	0.344017737713	0.34012	0.6095289416604722	0.60884	0.217516937017	0.24271	.	.	.	0.040717	0.25618	T	0.0366537	0.56605	T	-0.16964	0.57476	T	0.933490395545959	0.60027	D	0.966703	0.89432	D	0.44965413	0.64019	0.25814763	0.51543	0.44965413	0.64019	0.25814763	0.51542	-6.849	0.53417	T	.	.	0.217	0.44745	B	.;.;.	.;.;.	4.705764	0.75548	26.4	0.99592321772372094	0.73690	0.97841	0.77530	D	AEFDBCI	0.910060	0.86750	D	0.222647734521043	0.52298	3.404859	0.339728393298451	0.57890	3.956752	1.0	0.98316	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	4.9	4.9	0.63643	7.285000	0.78021	4.764000	0.44733	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	18.252	0.89945	594	0.68584	MCM N-terminal domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1760.98	43	chr6	52283310	.	C	T	1760.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.35;DP=913;ExcessHet=0.0000;FS=0.629;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=1.32;SOR=0.616	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1575	20	0	1	0
chr6	52403967	52403967	A	G	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.A754G:p.I252V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	B	0.041	B	0.000	D	1.000	D	0.24	N	1.69	T	-1.025	T	0.018	T	0.207	-0.511	1.662	5.64	2.147	2.830	15.038	0.060	0.00527960526329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.978e-05	0.0024	1.833e-05	2.124e-05	2.524e-05	1.372e-05	1.181e-05	1.728e-05	1.481e-05	0	2.239e-05	0	0	0	0	2.524e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.041	0.23986	B	0.000025	0.55875	D	0.115163	0.999832	0.49637	D	.	.	.	1.69	0.27032	T	0.18	0.05035	N	0.134	0.13055	-1.0252	0.22017	T	0.018	0.07518	T	9	0.10744271	0.19958	T	0.00528	0.13494	T	0.060	0.17295	0.488	0.57257	0.376393476264	0.37247	0.3401186203858187	0.33924	0.3389385424	0.35853	0.68097782135	0.64409	T	0.052677	0.29229	T	-0.214048	0.18812	T	-0.545242	0.17786	T	0.904308378696442	0.55774	D	0.813919	0.46746	T	0.07455341	0.16739	0.0980514	0.23362	0.07455341	0.16739	0.0980514	0.23362	-3.487	0.16251	T	.	.	0.198	0.42111	B	.;.	.;.	2.178607	0.27765	17.57	0.81419057112976168	0.13676	0.59864	0.31033	D	ALL	0.196894	0.32384	N	-0.163518393347399	0.34660	1.981109	0.0656923634619325	0.42836	2.598076	0.999999999628226	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	5.64	0.86480	4.094000	0.57448	11.121000	0.86550	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.038	0.71424	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1923	851.03	179	chr6	52403967	.	A	G	851.03	.	AC=5;AF=0.192;AN=26;BaseQRankSum=-3.856e+00;DP=2907;ExcessHet=1.1607;FS=121.785;InbreedingCoeff=-0.2622;MLEAC=6;MLEAF=0.231;MQ=60.00;MQRankSum=0.00;QD=0.76;ReadPosRankSum=1.19;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:182,0:182:0:.:.:0,0,4544	8	0	5	8
chr6	52403969	52403969	C	G	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.C756G:p.I252M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	B	0.14	B	0.000	D	0.893	D	1.005	L	1.55	T	-1.054	T	0.020	T	0.706	1.278	10.18	0.195	0.071	-0.768	5.139	0.170	0.00775913706174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.151e-05	0.0026	3.041e-05	1.254e-05	6.052e-05	1.542e-05	1.343e-05	1.691e-05	1.449e-05	6.052e-05	0	0	0	0	0	2.47e-05	1.675e-05	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.31532	T	0.13	0.34716	T	0.118	0.26577	B	0.14	0.33554	B	0.000025	0.55875	D	0.115163	0.892936	0.35993	D	.	.	.	1.55	0.29866	T	-1.48	0.36189	N	0.283	0.32037	-1.0538	0.13359	T	0.020	0.08593	T	9	0.124320894	0.23611	T	0.007759	0.20589	T	0.170	0.43303	0.517	0.61763	0.267299060538	0.26338	0.586538640297082	0.58583	0.48057550277	0.47073	0.721015810966	0.70195	T	0.080878	0.36467	T	-0.0535672	0.43903	T	-0.314722	0.43150	T	0.235945180058479	0.22232	T	0.821218	0.48050	T	0.14476812	0.33215	0.13295785	0.31893	0.14476812	0.33214	0.13295785	0.31892	-5.366	0.40591	T	.	.	0.261	0.50025	B	.;.	.;.	1.402312	0.18166	13.58	0.96333446261906064	0.29456	0.11428	0.16627	N	ALL	0.097766	0.19713	N	-0.570544328712899	0.19843	1.041757	-0.512454945959116	0.21814	1.181902	0.999999914802843	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	0.195	0.14431	-0.473000	0.06694	0.906000	0.22588	0.599000	0.40250	0.215000	0.24480	0.988000	0.31051	0.998000	0.85391	0.1925:0.4175:0.0:0.3899	5.139	0.14281	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	191.07	167	chr6	52403969	.	C	G	191.07	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.418e+00;DP=2096;ExcessHet=0.0000;FS=117.078;InbreedingCoeff=-0.0294;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.80;ReadPosRankSum=1.66;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,108,1620	20	0	1	0
chr6	52403970	52403970	C	G	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.C757G:p.L253V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.003	B	0.157	N	0.996	N	0.755	N	1.65	T	-0.968	T	0.013	T	0.113	-0.959	0.326	0.156	0.065	0.183	2.509	0.090	0.00348224358472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.968e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.003	0.08700	B	0.156625	0.17794	N	0.568363	0.996179	0.23093	N	.	.	.	1.65	0.27650	T	-0.03	0.07444	N	0.044	0.01740	-0.9683	0.37551	T	0.013	0.05273	T	9	0.042198032	0.02945	T	0.003482	0.07878	T	0.090	0.26093	0.392	0.41606	0.285316908763	0.28143	0.43405932941727343	0.43322	0.378079884607	0.39231	0.363088190556	0.19835	T	0.057537	0.30593	T	-0.281738	0.10485	T	-0.642473	0.09489	T	0.0282962478868167	0.01731	T	0.712529	0.32403	T	0.043572016	0.06815	0.0388608	0.03850	0.043572016	0.06814	0.0388608	0.03849	-4.826	0.34893	T	.	.	0.076	0.05756	B	.;.	.;.	0.789462	0.11600	8.188	0.71478645488480796	0.09643	0.08993	0.14835	N	ALL	0.070025	0.13885	N	-0.645021285286078	0.17606	0.9073494	-0.553991212567468	0.20700	1.116454	0.999999888871553	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	0.156	0.14205	0.857000	0.27486	0.414000	0.18144	0.599000	0.40250	0.560000	0.27425	0.980000	0.30356	0.998000	0.85391	0.207:0.4109:0.2345:0.1476	2.509	0.04369	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	184.16	156	chr6	52403970	.	C	G	184.16	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.946e+00;DP=1930;ExcessHet=0.0000;FS=113.649;InbreedingCoeff=-0.0331;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.78;ReadPosRankSum=1.74;SOR=7.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,108,1620	20	0	1	0
chr6	52452799	52452799	T	C	exonic	EFHC1	.	nonsynonymous SNV	EFHC1:NM_018100:exon4:c.T685C:p.F229L	.	.	0	1500	22	0	0	22	0.00727995	.	.	17103	not_specified|Myoclonic_epilepsy,_juvenile,_susceptibility_to,_1|not_provided|Absence_seizure	MedGen:CN169374|MONDO:MONDO:0020752,MedGen:C1850778,OMIM:254770|MedGen:C3661900|MONDO:MONDO:0850093,MedGen:C0014553,Orphanet:1941	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.66	T	0.967	D	0.7	P	0.000	D	0.959	D	2.23	M	-0.03	T	-0.669	T	0.230	T	0.85	2.519	14.38	6.01	2.299	4.611	12.303	0.399	0.031365780839	0.0033	0.00179712	0.0036	0.0005	0.0019	0	0	0.0046	0.0044	0.0059	0.003454	534	154602	rs137852776	0.0034	0.0034	0.0032	0.0036	0.0175	0.0033	0.0033	0.0147	0.0137	0.0009	0.0023	0.0093	0	0.0001	0.0175	0.0033	0.0049	0.0064	0.0025	0.0025	0.0027	0.0022	0.0037	0.0023	0.0022	0.0033	0.0032	0.0004	0.0011	0.0027	0.0081	0.0006	0.0002	0.0102	0.0037	0.0066	0.0031	0.122	0.28646	T	0.46	0.12597	T	0.504	0.37219	P	0.313	0.41496	B	0.000485	0.43931	D	0.293940	0.933231	0.38088	D	2.095	0.58118	M	-0.03	0.66834	T	-3.63	0.69714	D	0.549	0.57518	-0.6689	0.61879	T	0.230	0.59534	T	10	0.008032471	0.00182	T	0.031366	0.53467	D	0.399	0.71321	0.716	0.85141	0.731118981328	0.72872	0.5701267345547452	0.56940	0.121426892883	0.13675	0.618223547935	0.55478	T	0.058338	0.63291	T	-0.0980215	0.36755	T	0.0884799	0.76144	D	0.0429790339192971	0.04234	T	0.915508	0.87759	D	0.23443545	0.46263	0.23962149	0.49316	0.19015794	0.40589	0.21333316	0.45839	-5.389	0.40813	T	0.3224772137888053	0.42062	0.768	0.80895	P	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	4.128566	0.61766	24.4	0.98029295558647345	0.37697	0.91334	0.53324	D	AEFDBI	0.459867	0.51029	N	0.321863335675946	0.57272	3.893954	0.416421696834408	0.62587	4.476721	0.992551105850647	0.32882	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.01	6.01	0.97420	4.606000	0.60832	7.895000	0.73253	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0673:0.0:0.9327	12.303	0.54206	857	0.34089	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	2108.98	35	chr6	52452799	.	T	C	2108.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.550e-01;DP=880;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.22;ReadPosRankSum=0.203;SOR=0.651	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1271	20	0	1	0
chr6	52469339	52469339	C	T	exonic	EFHC1	.	nonsynonymous SNV	EFHC1:NM_018100:exon7:c.C1144T:p.P382S	.	.	12	1509	1	0	0	1	0.000331236	.	.	201998	Absence_seizure|Myoclonic_epilepsy,_juvenile,_susceptibility_to,_1|not_provided	MONDO:MONDO:0850093,MedGen:C0014553,Orphanet:1941|MONDO:MONDO:0020752,MedGen:C1850778,OMIM:254770|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.993	D	0.000	D	1.000	D	3.015	M	-0.56	T	0.341	D	0.625	D	0.872	3.214	16.77	5.69	2.679	4.410	19.822	0.646	0.10271731399	.	.	0.0002	0	0	0	0.0002	0.0001	0	0.0006	0.0001294	20	154602	rs566874147	4.447e-05	4.446e-05	3.676e-05	5.226e-05	0.0005	3.575e-05	3.257e-05	0.0003	0.0003	0	0	0	0	1.874e-05	0	1.709e-05	8.28e-05	0.0005	1.313e-05	1.312e-05	0	2.686e-05	0.0004	2.18e-06	8.2e-07	7.301e-05	3.033e-05	0	0	0	0	0	0	0	0	0	0.0004	0.007	0.59928	D	0.012	0.63918	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.049166	0.999994	0.58761	D	3.47	0.92451	M	-0.56	0.73523	T	-7.47	0.95015	D	0.825	0.82057	0.341	0.88198	D	0.625	0.86829	D	10	0.78178763	0.77915	D	0.102717	0.77634	D	0.646	0.86586	0.606	0.73825	0.924131040495	0.92336	0.7418849979259445	0.74134	0.459963459641	0.45555	0.587653934956	0.51162	T	0.121249	0.76904	T	0.107102	0.65049	D	0.232224	0.84778	D	0.968815505504608	0.68372	D	0.962304	0.94819	D	0.6131164	0.73395	0.622331	0.77995	0.6131164	0.73396	0.622331	0.77996	-11.173	0.81278	D	0.6322560508345103	0.70181	0.594	0.73620	P	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	4.200312	0.63377	24.6	0.99905030338655454	0.97576	0.98502	0.83459	D	AEFBI	0.686171	0.64793	D	0.744800751039115	0.82565	7.794299	0.660819827998997	0.79417	7.078407	0.998743418638613	0.37581	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	5.69	5.69	0.88346	4.482000	0.59989	7.569000	0.60664	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.264000	0.23619	0.0:1.0:0.0:0.0	19.822	0.96595	887	0.27948	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4581.98	34	chr6	52469339	.	C	T	4581.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.586e+00;DP=1111;ExcessHet=0.0000;FS=1.124;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=1.05;SOR=0.592	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1476	20	0	1	0
chr6	52479786	52479786	A	G	exonic	EFHC1	.	nonsynonymous SNV	EFHC1:NM_018100:exon9:c.A1639G:p.S547G	.	.	0	1516	6	0	0	6	0.00197498	0.8829	0.608	832062	not_provided|Absence_seizure|Myoclonic_epilepsy,_juvenile,_susceptibility_to,_1|not_specified	MedGen:C3661900|MONDO:MONDO:0850093,MedGen:C0014553,Orphanet:1941|MONDO:MONDO:0020752,MedGen:C1850778,OMIM:254770|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.39	T	0.0	B	0.001	B	0.022	N	1.000	N	0.145	N	-0.08	T	-1.067	T	0.056	T	0.052	0.953	8.885	3.12	0.373	1.625	5.109	0.050	0.00744125407936	.	.	2.486e-05	0	0	0	0	3.013e-05	0	6.087e-05	2.59e-05	4	154602	rs759767484	3.489e-05	3.489e-05	2.995e-05	3.988e-05	0.0003	2.697e-05	2.438e-05	6.094e-05	2.522e-05	0	6.709e-05	0	0	0	0.0003	3.327e-05	6.624e-05	5.797e-05	2.628e-05	2.627e-05	2.569e-05	2.69e-05	6.542e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.542e-05	0	0	0	0	4.41e-05	0	0	0.425	0.09806	T	0.424	0.13953	T	0.0	0.02946	B	0.0	0.01387	B	0.021724	0.01558	N	2.072630	1	0.08975	N	0.69	0.16971	N	-0.08	0.67712	T	-0.5	0.15782	N	0.114	0.12484	-1.0667	0.10154	T	0.056	0.23677	T	10	0.047158033	0.03998	T	0.007441	0.19739	T	0.050	0.13987	.	.	0.670669281473	0.66789	0.15334929598202804	0.15256	0.0778385254276	0.08765	0.281792253256	0.07744	T	0.07905	0.36036	T	-0.371774	0.03506	T	-0.574832	0.15009	T	0.0368777886033058	0.03135	T	0.553945	0.19167	T	0.061656132	0.12792	0.05126548	0.08214	0.061656132	0.12792	0.05126548	0.08214	-4.281	0.29408	T	.	.	0.061	0.01271	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.068155	0.26296	17.07	0.73651312735804308	0.10405	0.13295	0.17775	N	AEFBI	0.111863	0.22132	N	-0.917964804609424	0.10422	0.4979471	-0.861467967477348	0.13012	0.6726477	0.571223267379184	0.21494	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	5.56	3.12	0.34986	2.516000	0.45181	2.108000	0.30643	0.756000	0.94297	0.249000	0.24839	0.948000	0.28948	0.055000	0.15596	0.7557:0.0:0.086:0.1583	5.109	0.14134	882	0.29131	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1075.98	33	chr6	52479786	.	A	G	1075.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.380e-01;DP=798;ExcessHet=0.0000;FS=4.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.35;ReadPosRankSum=-1.111e+00;SOR=1.090	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1347	20	0	1	0
chr6	52684158	52684158	G	A	exonic	TMEM14A	.	nonsynonymous SNV	TMEM14A:NM_014051:exon4:c.G253A:p.G85S,	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	1.0	D	0.999	D	0.000	D	0.997	D	.	.	0.96	T	-0.936	T	0.131	T	0.602	2.594	14.63	5.1	1.498	2.829	9.741	0.363	0.0163742465492	.	.	8.379e-06	0	0	0	0	1.527e-05	0	0	6.5e-06	1	154602	rs5028973	3.422e-06	3.42e-06	4.086e-06	2.752e-06	2.321e-05	1e-06	7.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	1.799e-06	1.657e-05	2.321e-05	1.314e-05	1.313e-05	0	2.69e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.15	0.24661	T	0.736	0.05054	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.051435	0.996619	0.43309	D	.	.	.	0.96	0.42888	T	-3.03	0.62747	D	0.559	0.58373	-0.9360	0.43241	T	0.131	0.44228	T	9	0.86963797	0.86224	D	0.016374	0.37594	T	0.363	0.68319	0.814	0.92925	0.594932130068	0.59170	0.7380616767727239	0.73751	0.691632800788	0.60612	0.572891056538	0.49086	T	0.109798	0.42396	T	-0.0637236	0.42324	T	-0.329311	0.41547	T	0.975195229053497	0.70828	D	0.945205	0.79148	D	0.48854962	0.66416	0.51572293	0.72019	0.48854962	0.66416	0.51572293	0.72019	-5.001	0.36851	T	.	.	0.114	0.22825	B	.	.	4.359860	0.67034	25.0	0.99651388895834969	0.77317	0.87583	0.47170	D	AEFBI	0.718557	0.66972	D	0.396952611587394	0.61257	4.324337	0.378117435458028	0.60218	4.206982	0.0468032722833865	0.14705	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.633917	0.49826	0	.	.	5.97	5.1	0.68917	2.412000	0.44263	8.269000	0.76886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0735:0.0:0.7839:0.1425	9.741	0.39587	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1316.98	34	chr6	52684158	.	G	A	1316.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.68;DP=838;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.37;ReadPosRankSum=-6.280e-01;SOR=0.639	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1264	20	0	1	0
chr6	52794147	52794147	C	T	exonic	GSTA1	.	nonsynonymous SNV	GSTA1:NM_001319059:exon4:c.G113A:p.R38H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.798	P	0.215	B	0.000	N	1.000	N	2.775	M	4.41	T	-0.940	T	0.004	T	0.367	1.374	10.52	0.665	-0.177	1.544	7.011	0.127	0.00218176482919	7.7e-05	.	2.471e-05	0	0.0002	0	0	1.499e-05	0	0	1.94e-05	3	154602	rs374431368	4.994e-05	5.062e-05	4.084e-05	5.914e-05	0.0009	4.059e-05	3.734e-05	0.0003	0.0002	5.975e-05	0.0004	0	2.52e-05	0	0.0009	2.968e-05	6.623e-05	0.0001	1.315e-05	1.314e-05	0	2.692e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.084	0.32929	T	0.145	0.33000	T	0.798	0.44840	P	0.215	0.37512	B	0.000008	0.62929	N	0.064364	1	0.08975	N	2.745	0.80253	M	4.41	0.02196	T	-3.24	0.65171	D	0.369	0.41063	-0.9395	0.42695	T	0.004	0.01365	T	10	0.26203787	0.43669	T	0.002182	0.04098	T	0.127	0.34888	.	.	0.134241683229	0.13084	0.12809250268252867	0.12734	0.0085568136033	0.00777	0.326749950647	0.14443	T	0.122438	0.44610	T	-0.38085	0.03078	T	-0.487282	0.23675	T	0.640982449054718	0.38078	D	0.893711	0.63166	D	0.25984466	0.49039	0.15910327	0.37123	0.25984466	0.49038	0.15910327	0.37122	-8.645	0.65385	D	.	.	0.280	0.51350	B	.	.	2.995635	0.40013	21.1	0.95081207513442323	0.26134	0.05366	0.11227	N	AEFI	0.270827	0.38682	N	-0.553500963849444	0.20375	1.073563	-0.79066367934846	0.14723	0.7708316	2.15372980916859E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.58	0.665	0.17066	2.246000	0.42794	-3.197000	0.02979	0.429000	0.20894	0.037000	0.20830	0.000000	0.08366	0.024000	0.12247	0.0:0.7509:0.0:0.2491	7.011	0.24040	900	0.24599	Glutathione S-transferase, C-terminal|Glutathione S-transferase, C-terminal-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2837.98	33	chr6	52794147	.	C	T	2837.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.018e+00;DP=951;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=-1.209e+00;SOR=0.703	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1402	20	0	1	0
chr6	52799230	52799230	C	T	exonic	GSTA1	.	nonsynonymous SNV	GSTA1:NM_145740:exon2:c.G38A:p.R13Q,	.	.	429	1084	9	0	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.922	P	0.326	B	0.000	D	0.982	D	3.335	M	2.94	T	-1.093	T	0.025	T	0.615	2.375	13.90	1.94	0.292	5.610	9.322	0.220	.	0.0002	0.00419329	0.0015	0.0002	0.0005	0	0	0.0001	0.0044	0.0102	0.0014101	218	154602	rs202070455	0.0006	0.0006	0.0004	0.0008	0.0084	0.0006	0.0005	0.0079	0.0077	0	0.0007	0	0	0	0.0002	5.756e-05	0.0008	0.0084	0.0004	0.0004	0.0002	0.0006	0.0110	0.0003	0.0003	0.0086	0.0078	2.407e-05	0	0.0001	0	0	0	0	5.88e-05	0.0005	0.0110	0.028	0.46129	D	0.061	0.45530	T	0.922	0.51142	P	0.326	0.41929	B	0.000000	0.84330	D	0.000000	0.981789	0.39816	D	4.075	0.97183	H	2.94	0.09728	T	-2.89	0.60665	D	0.617	0.63289	-1.0927	0.05097	T	0.025	0.10777	T	10	0.016188085	0.00340	T	.	.	.	0.220	0.51569	.	.	0.201204373187	0.19734	0.4514263527968819	0.45060	0.00796437177968	0.00718	0.678598940372	0.64068	T	0.123445	0.44781	T	-0.400377	0.02302	T	-0.340783	0.40255	T	0.138852752925521	0.16176	T	0.935306	0.75759	D	0.8607433	0.88143	0.3849145	0.63421	0.8607433	0.88144	0.3849145	0.63420	-9.561	0.71238	D	.	.	0.617	0.69563	P	.	.	3.411985	0.47334	22.4	0.99823404064112842	0.90590	0.88029	0.47782	D	AEFBI	0.809047	0.73266	D	0.0394392217136015	0.43658	2.654436	-0.14935455739239	0.33432	1.912407	0.00319355101008475	0.09983	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.83	1.94	0.25058	5.304000	0.65535	0.160000	0.15395	0.445000	0.21165	0.575000	0.27546	0.000000	0.08366	0.497000	0.28949	0.0:0.8847:0.0:0.1153	9.322	0.37130	900	0.24599	Glutathione S-transferase, N-terminal|Glutathione S-transferase, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2887.98	40	chr6	52799230	.	C	T	2887.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.60;DP=1084;ExcessHet=0.0000;FS=1.395;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.93;MQRankSum=0.00;QD=9.79;ReadPosRankSum=1.31;SOR=0.611	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr6	52832944	52832944	C	G	exonic	GSTA5	.	nonsynonymous SNV	GSTA5:NM_153699:exon6:c.G461C:p.S154T,	.	.	421	1075	26	0	0	26	0.0119485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.019	B	0.094	B	0.000	D	0.799	D	1.585	L	4.66	T	-0.910	T	0.003	T	0.252	0.708	7.776	0.506	-0.029	0.473	6.806	0.110	0.00242195870116	0.0026	0.00179712	0.0024	0.0004	0.0014	0	0.0009	0.0039	0.0055	0.0002	0.0023609	365	154602	rs143520523	0.0027	0.0027	0.0027	0.0028	0.0163	0.0027	0.0026	0.0136	0.0126	0.0009	0.0030	0.0158	2.519e-05	0.0007	0.0163	0.0027	0.0043	0.0007	0.0026	0.0026	0.0029	0.0022	0.0037	0.0024	0.0023	0.0030	0.0027	0.0006	0	0.0037	0.0199	0	0.0005	0.0340	0.0031	0.0043	0.0004	0.211	0.19569	T	0.149	0.32568	T	0.019	0.17989	B	0.094	0.30180	B	0.000000	0.84330	D	0.000000	0.79924	0.34489	D	2.075	0.57047	M	4.66	0.01756	T	-2.23	0.50012	N	0.355	0.39659	-0.9104	0.46805	T	0.003	0.00832	T	10	0.006234616	0.00141	T	0.002422	0.04757	T	0.110	0.31079	.	.	0.186928172975	0.18263	0.2469723761035866	0.24611	0.0577017781432	0.06392	0.533845961094	0.43577	T	0.028882	0.20821	T	-0.544383	0.00315	T	-0.552411	0.17095	T	0.0304873309181359	0.02064	T	0.842116	0.51841	T	0.17287453	0.38002	0.18768579	0.42015	0.17287453	0.38002	0.18768579	0.42014	-6.563	0.50770	T	.	.	0.118	0.25133	B	.;.	.;.	2.182335	0.27816	17.59	0.884820044602464	0.18011	0.55118	0.29784	D	AEFBI	0.138628	0.25998	N	-0.538126603408292	0.20857	1.102685	-0.506398014274513	0.21979	1.191586	2.42712040655439E-6	0.01202	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	2.66	0.506	0.16163	1.585000	0.36210	0.918000	0.22682	0.545000	0.25583	1.000000	0.71638	0.366000	0.24545	0.956000	0.50813	0.0:0.7118:0.1782:0.1099	6.806	0.22961	644	0.63734	Glutathione S-transferase, C-terminal|Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal|Glutathione S-transferase, C-terminal-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2124.98	127	chr6	52832944	.	C	G	2124.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.833e+00;DP=1759;ExcessHet=0.0000;FS=0.524;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.89;MQRankSum=-1.500e+00;QD=10.84;ReadPosRankSum=1.63;SOR=0.701	GT:AD:DP:GQ:PL	0/0:98,0:98:99:0,120,1800	20	0	1	0
chr6	53013697	53013708	GCAACGGGCTTG	-	exonic	CILK1	.	nonframeshift deletion	CILK1:NM_001375397:exon9:c.1106_1117del:p.P369_L372del	.	.	0	1513	9	0	0	9	0.0029654	.	.	586698	not_specified|not_provided|CILK1-related_disorder|Endocrine-cerebro-osteodysplasia_syndrome|Epilepsy,_juvenile_myoclonic,_susceptibility_to,_10	MedGen:CN169374|MedGen:C3661900|.|MONDO:MONDO:0012980,MedGen:C2675227,OMIM:612651,Orphanet:199332|MONDO:MONDO:0060671,MedGen:C4693613,OMIM:617924	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0057	0.00339457	0.0074	0.0025	0.0030	0	0.0077	0.0104	0.0055	0.0051	0.0011526	30	26028	rs201964851	0.0095	0.0097	0.0098	0.0092	0.0109	0.0093	0.0093	0.0107	0.0107	0.0009	0.0033	0.0044	0	0.0091	0.0017	0.0109	0.0086	0.0049	0.0061	0.0061	0.0063	0.0059	0.0096	0.0058	0.0057	0.0090	0.0088	0.0020	0	0.0050	0.0026	0	0.0068	0	0.0096	0.0085	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3213.94	34	chr6	53013696	.	AGCAACGGGCTTG	A	3213.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.100e-02;DP=860;ExcessHet=0.0000;FS=4.639;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.60;ReadPosRankSum=-1.240e+00;SOR=1.082	GT:AD:DP:GQ:PL	0/1:81,83:164:99:3228,0,3150	20	0	1	0
chr6	53654942	53654942	C	T	exonic	KLHL31	.	nonsynonymous SNV	KLHL31:NM_001003760:exon2:c.G331A:p.V111M,	.	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.934	P	0.787	P	0.000	D	1.000	D	2.475	M	-0.45	T	-0.173	T	0.426	T	0.678	3.872	19.68	6.03	2.868	4.761	20.560	0.436	0.0762419857206	0.0010	0.000599042	0.0020	0.0002	0.0016	0	0.0006	0.0030	0.0022	0.0013	0.0019146	296	154602	rs141075656	0.0019	0.0019	0.0019	0.0020	0.0303	0.0019	0.0019	0.0267	0.0253	0.0013	0.0023	0.0136	0	0.0002	0.0303	0.0016	0.0034	0.0015	0.0016	0.0016	0.0015	0.0017	0.0019	0.0015	0.0014	0.0017	0.0016	0.0005	0	0.0019	0.0110	0	0.0002	0.0374	0.0019	0.0057	0.0004	0.004	0.65419	D	0.059	0.45961	T	0.934	0.52202	P	0.787	0.57594	P	0.000000	0.84330	D	0.051118	0.99966	0.48141	D	2.78	0.81115	M	-0.45	0.69896	T	-1.83	0.42957	N	0.561	0.58543	-0.1729	0.78357	T	0.426	0.76923	T	10	0.010575861	0.00235	T	0.076242	0.72484	D	0.436	0.74093	.	.	0.842970669175	0.84147	0.6383465388832181	0.63768	0.388253492128	0.40090	0.5328155756	0.43432	T	0.393654	0.75300	T	-0.19485	0.21550	T	-0.0585228	0.66436	T	0.0326545975782044	0.02414	T	0.918208	0.70605	D	0.4781343	0.65787	0.44531605	0.67684	0.4781343	0.65788	0.44531605	0.67684	-5.746	0.44101	T	.	.	0.227	0.45859	B	.;.	.;.	4.096891	0.61058	24.3	0.99837510008053665	0.91800	0.91540	0.53744	D	AEFDBIJ	0.680883	0.64442	D	0.749329093085302	0.82862	7.868594	0.757920617003437	0.86746	8.989521	0.999999989921157	0.74766	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	6.03	6.03	0.97798	4.796000	0.62190	4.920000	0.46033	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	20.560	0.99327	779	0.47767	BTB/POZ domain|BTB/POZ domain|BTB/POZ domain;BTB/POZ domain|BTB/POZ domain|BTB/POZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1690.98	134	chr6	53654942	.	C	T	1690.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.65;DP=2774;ExcessHet=0.0000;FS=19.032;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=-7.220e-01;SOR=1.996	GT:AD:DP:GQ:PL	0/0:152,0:152:99:0,120,1800	20	0	1	0
chr6	54124564	54124564	C	T	exonic	MLIP	.	nonsynonymous SNV	MLIP:NM_001281746:exon3:c.C311T:p.T104M	.	.	432	1085	5	0	0	5	0.00229885	.	.	2452195	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.99	D	0.556	P	0.041	N	1.000	N	0.345	N	2.17	T	-1.077	T	0.037	T	0.293	1.583	11.25	1.76	0.064	0.751	4.964	0.061	0.0209085108419	7.7e-05	.	1.648e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs374203719	2.121e-05	2.121e-05	1.633e-05	2.613e-05	0.0007	1.52e-05	1.324e-05	0.0002	0.0001	0	2.236e-05	0	0	0	0.0007	2.338e-05	0	0	4.602e-05	4.598e-05	1.285e-05	8.075e-05	0.0004	2.11e-05	1.528e-05	0.0002	0.0001	0	0	0.0004	0	0	0	0	1.47e-05	0	0	0.027	0.54683	D	0.038	0.57587	D	0.954	0.63424	P	0.332	0.49411	B	0.041150	0.23980	N	0.409557	1	0.08975	N	0.55	0.14455	N	1.81	0.48460	T	-1.67	0.39887	N	0.232	0.26111	-1.0769	0.07962	T	0.037	0.16073	T	10	0.058205187	0.06806	T	0.020909	0.43593	T	0.061	0.17616	.	.	0.107399877778	0.10242	0.14448329742903324	0.14371	0.0168988802729	0.01637	0.220798686147	0.01356	T	0.004233	0.24205	T	-0.298015	0.08847	T	-0.509488	0.21368	T	0.0718890327424557	0.08914	T	0.925307	0.72589	D	0.025950938	0.01591	0.048986528	0.07393	0.025950938	0.01591	0.048986528	0.07392	-5.038	0.39854	T	.	.	0.112	0.22098	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.521052	0.19527	14.31	0.99517904387585909	0.69040	0.02784	0.07493	N	AEFBI	0.138710	0.26008	N	-0.682229338520566	0.16528	0.8428967	-0.765411690419671	0.15345	0.8065413	1.98699645124237E-5	0.02871	0.554377	0.28877	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.48	1.76	0.23776	0.366000	0.20099	2.097000	0.30581	-0.187000	0.09635	0.021000	0.19753	0.796000	0.26906	0.140000	0.19946	0.636:0.1831:0.1809:0.0	4.964	0.13431	737	0.53483	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1836.98	35	chr6	54124564	.	C	T	1836.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.282;DP=825;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.81;ReadPosRankSum=0.359;SOR=0.679	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1197	20	0	1	0
chr6	54137573	54137573	C	T	exonic	MLIP	.	nonsynonymous SNV	MLIP:NM_001281746:exon4:c.C1471T:p.L491F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.002	B	0.003	B	.	.	1.000	N	.	.	1.9	T	-0.995	T	0.022	T	0.108	-0.205	3.004	-4.36	-0.525	-0.654	0.749	0.019	.	.	0.00339457	0.0002	0.0054	0	0	0	0	0	0	0.0001876	29	154602	rs114118291	0.0003	0.0002	0.0003	0.0002	0.0091	0.0002	0.0002	0.0082	0.0079	0.0091	0.0003	0	0	0	0.0009	1.668e-05	0.0007	2.524e-05	0.0024	0.0025	0.0025	0.0023	0.0083	0.0022	0.0022	0.0076	0.0073	0.0083	0	0.0012	0	0	0	0	4.41e-05	0.0014	0	0.054	0.44358	T	0.115	0.38160	T	0.002	0.09854	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	1.89	0.46028	T	-0.9	0.25332	N	0.028	0.00666	-0.9945	0.31432	T	0.022	0.09193	T	8	0.005687654	0.00126	T	.	.	.	0.019	0.03383	.	.	0.0138822411134	0.00435	0.059807809239664556	0.05920	.	.	0.208425328135	0.00746	T	0.020553	0.16160	T	-0.627515	0.00099	T	-0.668749	0.07689	T	0.00800890565020274	0.00095	T	0.517648	0.16760	T	.	.	.	.	.	.	.	.	-4.507	0.30980	T	.	.	0.073	0.06250	B	.;.;.	.;.;.	-0.580113	0.01627	0.112	0.95016521553519906	0.25995	0.01702	0.05411	N	AEFBI	0.052885	0.09479	N	-1.20825196311339	0.04878	0.2211315	-1.31943183854528	0.04179	0.1965778	0.00726773019633207	0.11424	0.500041	0.20204	0	0.624306	0.53593	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.64	-4.36	0.03392	-0.626000	0.05624	-1.499000	0.05301	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2125:0.1657:0.329:0.2928	0.749	0.00924	748	0.52143	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2134.98	40	chr6	54137573	.	C	T	2134.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.656e+00;DP=957;ExcessHet=0.0000;FS=1.759;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.01;ReadPosRankSum=0.556;SOR=0.836	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr6	54160379	54160379	C	G	exonic	MLIP	.	nonsynonymous SNV	MLIP:NM_138569:exon5:c.C697G:p.P233A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.000	D	1.000	D	1.845	L	1.06	T	-0.701	T	0.225	T	0.798	3.951	20.2	5.62	2.657	4.993	17.152	0.202	0.0723567226033	.	.	8.456e-06	0	0	0	0	1.54e-05	0	0	6.5e-06	1	154602	rs754517937	4.795e-06	4.788e-06	6.815e-06	2.754e-06	5.401e-06	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.401e-06	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.016	0.92824	D	0.999	0.90584	D	0.99	0.92359	D	0.000031	0.55875	D	0.072870	0.947118	0.81001	D	1.845	0.48678	L	0.85	0.47130	T	-4.5	0.89093	D	0.458	0.49874	-0.7013	0.60376	T	0.225	0.58881	T	10	0.38137016	0.54219	T	0.072357	0.71512	D	0.202	0.48754	0.256	0.19689	0.356281029322	0.35234	0.07557284818015642	0.07493	0.0779450384907	0.08777	0.397915840149	0.24779	T	0.03428	0.40554	T	0.102149	0.64524	D	-0.0910471	0.64083	T	0.977997601032257	0.72109	D	0.872813	0.74278	D	0.76874965	0.81973	0.7937256	0.87877	0.76874965	0.81975	0.7937256	0.87878	-1.976	0.03265	T	.	.	0.129	0.27732	B	.;.;.;.;.;.	.;.;.;.;.;.	4.266936	0.64895	24.8	0.99541451508683032	0.70523	0.96060	0.67351	D	AEFI	0.812401	0.73514	D	0.712287191991113	0.80436	7.294197	0.709830335300869	0.83124	7.940435	0.990990209132392	0.32338	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.62	5.62	0.85714	3.831000	0.55477	7.600000	0.61533	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	17.152	0.86660	770	0.49152	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	818.98	35	chr6	54160379	.	C	G	818.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.21;DP=768;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.88;ReadPosRankSum=-4.480e-01;SOR=0.563	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1193	20	0	1	0
chr6	54349720	54349720	G	T	exonic	TINAG	.	nonsynonymous SNV	TINAG:NM_014464:exon7:c.G904T:p.V302L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.002	N	1.000	D	3.01	M	-1.89	D	0.697	D	0.780	D	0.758	4.564	24.7	5.87	2.785	6.987	17.709	0.724	0.189821667061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.037	0.51737	D	1.0	0.90584	D	0.997	0.86255	D	0.001881	0.37789	N	0.185416	0.999975	0.81001	D	2.975	0.85398	M	-1.89	0.84557	D	-2.72	0.57920	D	0.672	0.67995	0.697	0.93132	D	0.780	0.92544	D	10	0.86339	0.85570	D	0.189822	0.86086	D	0.724	0.90280	0.654	0.79172	0.625243557465	0.62219	0.7047589913356231	0.70417	0.0537011207665	0.05932	0.589624524117	0.51441	T	0.376996	0.74027	T	0.264854	0.79976	D	0.142668	0.79718	D	0.992709755897522	0.83255	D	0.910809	0.68393	D	0.81226754	0.84703	0.81390214	0.89149	0.81226754	0.84705	0.81390214	0.89150	-9.475	0.70703	D	.	.	0.752	0.75132	P	.	.	4.883060	0.80103	27.2	0.99837882780437615	0.91886	0.98682	0.85525	D	AEFI	0.797718	0.72447	D	0.943665809100995	0.93728	12.23636	0.904012934162149	0.95746	13.92454	0.975940523629998	0.29679	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.87	5.87	0.94266	7.192000	0.77301	11.634000	0.93728	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	17.709	0.88222	832	0.38914	Peptidase C1A, papain C-terminal|Peptidase C1A, papain C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	804.98	34	chr6	54349720	.	G	T	804.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.165e+00;DP=732;ExcessHet=0.0000;FS=3.875;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.88;ReadPosRankSum=0.906;SOR=0.342	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1143	20	0	1	0
chr6	55174615	55174615	C	T	exonic	HCRTR2	.	nonsynonymous SNV	HCRTR2:NM_001384272:exon1:c.C28T:p.P10S	.	.	418	1101	3	0	0	3	0.00136054	.	.	3208251	HCRTR2-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.71	T	0.001	B	0.003	B	0.017	N	0.951	N	1.1	L	0.25	T	-1.050	T	0.057	T	0.718	1.517	11.02	4.13	1.341	5.151	13.324	0.267	0.0176503206427	0.0023	0.00259585	0.0026	0.0006	0.0010	0	0.0008	0.0030	0.0066	0.0055	0.0025679	397	154602	rs41271310	0.0031	0.0031	0.0030	0.0031	0.0056	0.0030	0.0030	0.0052	0.0050	0.0004	0.0012	0.0018	0	0.0005	0.0021	0.0033	0.0026	0.0056	0.0019	0.0019	0.0019	0.0020	0.0042	0.0018	0.0017	0.0028	0.0027	0.0004	0.0011	0.0016	0.0023	0	0.0004	0	0.0032	0.0014	0.0042	0.087	0.32453	T	0.087	0.40747	T	0.001	0.07471	B	0.003	0.08700	B	0.017390	0.27736	N	0.380586	0.951049	0.26484	N	1.355	0.33814	L	0.25	0.59449	T	0.0	0.07008	N	0.738	0.73826	-1.0501	0.14369	T	0.057	0.23828	T	10	0.0052185953	0.00114	T	0.01765	0.39432	T	0.267	0.58126	.	.	0.72085163809	0.71839	0.5041753501072062	0.50339	0.390692922404	0.40278	0.299265027046	0.10291	T	0.054779	0.29819	T	-0.24989	0.14110	T	-0.130497	0.60930	T	0.0274067404104334	0.01602	T	0.765423	0.39305	T	0.09822756	0.23167	0.19046311	0.42451	0.09822756	0.23167	0.19046311	0.42450	-2.399	0.05127	T	.	.	0.066	0.02145	B	.;.	.;.	2.464590	0.31755	18.84	0.97994691485950525	0.37431	0.83237	0.42371	D	AEFGBI	0.328033	0.42882	N	-0.401890570979003	0.25403	1.378708	-0.26305541734032	0.29326	1.642073	0.996367830045145	0.34695	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	4.99	4.13	0.47661	4.256000	0.58601	3.973000	0.40841	0.599000	0.40250	0.783000	0.29509	0.259000	0.23971	0.991000	0.66497	0.0:0.9241:0.0:0.0759	13.324	0.59887	807	0.43470	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2723.98	34	chr6	55174615	.	C	T	2723.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.19;DP=922;ExcessHet=0.0000;FS=5.695;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=-1.343e+00;SOR=0.429	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1234	20	0	1	0
chr6	55874486	55874486	A	T	exonic	BMP5	.	nonsynonymous SNV	BMP5:NM_001329754:exon1:c.T380A:p.I127K	.	.	424	1049	48	1	0	50	0.0232775	.	.	3217204	BMP5-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.31	T	0.004	B	0.011	B	0.017	N	1.000	N	0.55	N	-0.17	T	-1.032	T	0.078	T	0.433	0.767	8.055	3.61	0.522	5.749	8.575	0.213	.	0.0044	0.00658946	0.0060	0.0012	0.0044	0	0.0017	0.0064	0.0111	0.0130	0.0057114	883	154602	rs148766592	0.0061	0.0061	0.0058	0.0064	0.0134	0.0060	0.0060	0.0128	0.0125	0.0008	0.0033	0.0007	5.04e-05	0.0016	0.0111	0.0064	0.0052	0.0134	0.0043	0.0043	0.0045	0.0041	0.0125	0.0041	0.0039	0.0099	0.0090	0.0011	0	0.0022	0.0006	0.0002	0.0011	0.0102	0.0072	0.0047	0.0125	0.312	0.13925	T	0.279	0.21745	T	0.0	0.02946	B	0.001	0.04355	B	0.016900	0.27861	N	0.409080	0.999942	0.19238	N	0	0.06538	N	-0.55	0.71068	T	-0.32	0.12283	N	0.306	0.34552	-1.0321	0.19777	T	0.078	0.31103	T	10	0.005883813	0.00132	T	.	.	.	0.213	0.50496	.	.	0.673091222706	0.67032	0.38443853275356543	0.38358	0.364414730211	0.38057	0.486332833767	0.36930	T	0.27718	0.64979	T	-0.372903	0.03450	T	-0.297394	0.44999	T	0.0186218125012243	0.00576	T	0.737926	0.35508	T	0.12036941	0.28325	0.18262362	0.41201	0.12036941	0.28325	0.18262362	0.41200	-2.995	0.10127	T	.	.	0.142	0.31203	B	.	.	2.070988	0.26338	17.08	0.86946015747244509	0.16882	0.80071	0.39809	D	AEFGBI	0.406686	0.47907	N	-0.282567121738962	0.29822	1.657207	-0.0970046483997416	0.35514	2.055537	0.999992548734019	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.96	3.61	0.40494	5.786000	0.68654	8.107000	0.76578	0.756000	0.94297	1.000000	0.71638	0.982000	0.30508	0.830000	0.39126	0.8006:0.0:0.1994:0.0	8.575	0.32753	824	0.40336	TGF-beta, propeptide	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2120.98	33	chr6	55874486	.	A	T	2120.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=838;ExcessHet=0.0000;FS=0.657;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.60;ReadPosRankSum=-3.440e-01;SOR=0.819	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1052	20	0	1	0
chr6	56597994	56597994	T	G	exonic	DST	.	nonsynonymous SNV	DST:NM_015548:exon28:c.A4072C:p.K1358Q	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	.	7	1514	1	0	0	1	0.000330142	.	.	954767	Inborn_genetic_diseases|Hereditary_sensory_and_autonomic_neuropathy_type_6|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.35	T	0.605	P	0.489	P	0.068	N	0.999	N	1.59	L	1.07	T	-0.639	T	0.269	T	0.208	3.118	16.42	4.56	2.367	5.755	3.741	0.095	0.0197138699703	0.0002	0.000399361	0.0002	0	0.0003	0	0	0.0003	0	0.0002	0.0002005	31	154602	rs149342331	0.0002	0.0002	0.0002	0.0002	0.0011	0.0001	0.0001	0.0006	0.0005	0	0.0008	0.0008	0	3.799e-05	0.0011	0.0001	0.0003	0.0003	0.0002	0.0002	0.0002	0.0003	0.0008	0.0002	0.0001	0.0005	0.0004	0	0	0.0008	0.0009	0	0	0	0.0002	0	0.0006	0.031	0.45039	D	.	.	.	0.534	0.37787	P	0.205	0.37080	B	0.068041	0.21700	N	0.386104	.	.	.	.	.	.	1.07	0.63240	T	-1.45	0.39314	N	0.34	0.38129	-0.6391	0.63184	T	0.269	0.64013	T	9	0.032398313	0.01391	T	0.019714	0.42141	T	0.095	0.27398	.	.	0.629396092934	0.62636	0.09769927878062888	0.09700	0.155923579576	0.17597	0.301511526108	0.10626	T	0.034397	0.23306	T	-0.331844	0.05973	T	-0.324861	0.42040	T	0.0445508772359391	0.04520	T	0.90031	0.66162	D	.	.	.	.	.	.	.	.	-4.732	0.33789	T	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	3.137673	0.42422	21.5	0.98047380825730901	0.37835	0.97380	0.74382	D	AEFDBI	0.754241	0.69418	D	0.153080786021841	0.48958	3.101708	0.274402971797336	0.54050	3.571168	0.999998927820353	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	4.56	0.55644	5.630000	0.67480	4.057000	0.41556	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.585000	0.31016	0.0:0.292:0.0:0.708	3.741	0.08055	247	0.90334	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2231.98	73	chr6	56597994	.	T	G	2231.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.56;DP=881;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.41;ReadPosRankSum=0.590;SOR=0.665	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1359	20	0	1	0
chr6	56603317	56603317	T	C	exonic	DST	.	nonsynonymous SNV	DST:NM_001374729:exon38:c.A10412G:p.H3471R	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	.	.	.	.	0.519	N	0.959	N	.	.	1.0	T	-0.827	T	0.271	T	0.228	-0.628	1.218	1.43	0.068	0.602	13.430	0.065	0.00959603998934	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1480689950	3.427e-06	3.42e-06	4.091e-06	2.756e-06	4.49e-05	1e-06	7.3e-07	7.44e-06	2.78e-06	0	4.49e-05	0	2.524e-05	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.18434	T	.	.	.	.	.	.	.	.	.	0.519367	0.11759	N	0.743446	.	.	.	.	.	.	0.05	0.61923	T	-0.41	0.14000	N	0.274	0.31027	-0.8271	0.53486	T	0.271	0.64256	T	6	0.12601966	0.23953	T	0.009596	0.25107	T	0.065	0.18881	.	.	0.292942362817	0.28906	.	.	.	.	.	.	.	0.005954	0.05392	T	-0.251431	0.13923	T	-0.423093	0.30722	T	0.0399119912280323	0.03674	T	0.716728	0.32905	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293113	0.06695	3.198	0.38552005055029182	0.02607	0.25851	0.22822	N	AEFBI	0.100168	0.20148	N	-0.515930514589349	0.21565	1.145383	-0.623698869383676	0.18884	1.010833	0.835793803417812	0.24776	0.706548	0.73137	0	0.546412	0.12157	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.37	1.43	0.21585	0.780000	0.26421	0.997000	0.23233	0.609000	0.47794	0.627000	0.27974	0.603000	0.25729	0.114000	0.18915	0.0:0.0:0.3362:0.6638	13.430	0.60500	249	0.90233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	613.98	33	chr6	56603317	.	T	C	613.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.000e-02;DP=781;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.77;ReadPosRankSum=-9.790e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	20	0	1	0
chr6	56607148	56607148	C	T	exonic	DST	.	nonsynonymous SNV	DST:NM_001374729:exon36:c.G6847A:p.A2283T	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.037	B	0.027	B	0.330	N	0.934	N	.	.	0.73	T	-0.959	T	0.186	T	0.234	3.658	18.60	3.67	1.411	0.749	4.694	0.042	0.020983214437	.	.	4.181e-05	0.0001	0	0	0	0	0.0011	0.0002	3.23e-05	5	154602	rs754092357	3.285e-05	3.283e-05	2.451e-05	4.128e-05	0.0004	2.544e-05	2.25e-05	0.0003	0.0002	5.979e-05	0	0	0	0	0.0003	7.197e-06	8.286e-05	0.0004	1.315e-05	1.314e-05	1.286e-05	1.346e-05	0.0002	2.19e-06	8.2e-07	.	.	2.415e-05	0	0	0	0	0	0	0	0	0.0002	0.035	0.55530	D	0.471	0.12211	T	0.037	0.20876	B	0.027	0.21085	B	0.330117	0.14128	N	0.628350	.	.	.	.	.	.	-0.2	0.70249	T	-0.2	0.11547	N	0.341	0.38232	-0.9589	0.39386	T	0.186	0.53511	T	8	0.050323308	0.04748	T	0.020983	0.43675	T	0.042	0.11227	.	.	0.428715581845	0.42488	.	.	.	.	.	.	.	0.008051	0.07409	T	-0.319035	0.06977	T	-0.38553	0.35075	T	0.0159764995474288	0.00379	T	0.839616	0.51993	T	.	.	.	.	.	.	.	.	-2.839	0.08548	T	.	.	.	.	.	.;.	.;.	2.338175	0.29965	18.29	0.99836635616670577	0.91800	0.17563	0.19891	N	AEFDGBCI	0.038186	0.05368	N	-0.431153743672161	0.24384	1.316215	-0.346250980128472	0.26625	1.471883	0.995240174267425	0.34024	0.634777	0.41761	0	0.601575	0.49859	0	0.486962	0.07600	0	0.645665	0.59343	0	.	.	5.7	3.67	0.41236	0.484000	0.22017	3.327000	0.37595	0.599000	0.40250	0.000000	0.06391	0.999000	0.35428	0.931000	0.46843	0.0:0.6466:0.0:0.3534	4.694	0.12177	251	0.90153	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1612.98	116	chr6	56607148	.	C	T	1612.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.720e+00;DP=1888;ExcessHet=0.0000;FS=0.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=0.050;SOR=0.815	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	20	0	1	0
chr6	56608207	56608207	T	C	exonic	DST	.	nonsynonymous SNV	DST:NM_001374729:exon36:c.A5788G:p.I1930V	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	.	11	1492	18	1	0	20	0.00665779	.	.	2820457	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.013	B	0.03	B	0.167	N	0.999	N	.	.	0.94	T	-1.063	T	0.083	T	0.069	-2.087	0.006	0.722	0.127	0.054	7.267	0.023	0.00375307226184	0.0005	0.000399361	0.0006	0	0.0004	0	0	0.0009	0	0.0002	0.0005627	87	154602	rs151214572	0.0005	0.0005	0.0005	0.0005	0.0106	0.0005	0.0005	0.0085	0.0077	0.0003	0.0007	0.0036	0	1.874e-05	0.0106	0.0004	0.0011	0.0004	0.0004	0.0004	0.0005	0.0003	0.0006	0.0003	0.0003	0.0003	0.0003	7.214e-05	0	0.0006	0.0023	0	0	0.0238	0.0005	0.0014	0.0006	0.857	0.02803	T	1.0	0.01155	T	0.013	0.16609	B	0.03	0.21741	B	0.166556	0.17501	N	0.497690	.	.	.	.	.	.	-0.11	0.67712	T	-0.03	0.07444	N	0.068	0.04072	-1.0630	0.11021	T	0.083	0.32499	T	8	0.003761053	0.00070	T	0.003753	0.08713	T	0.023	0.04649	.	.	0.204265027416	0.20035	.	.	.	.	.	.	.	0.00742	0.06827	T	-0.483638	0.00705	T	-0.561404	0.16246	T	0.00445262401150841	0.00048	T	0.734227	0.35027	T	.	.	.	.	.	.	.	.	-3.661	0.18744	T	.	.	.	.	.	.;.	.;.	0.892483	0.12662	9.184	0.22045076318213452	0.00868	0.15181	0.18784	N	AEFBCI	0.091403	0.18515	N	-0.90140189941813	0.10809	0.5183993	-0.867754581094253	0.12861	0.6640525	0.0572692526383711	0.15086	0.706548	0.73137	0	0.379588	0.06130	0	0.463624	0.06942	0	0.714379	0.83352	0	.	.	5.75	0.722	0.17379	0.054000	0.14087	0.100000	0.14636	0.665000	0.62972	0.091000	0.22601	0.006000	0.19429	0.991000	0.66497	0.0:0.5883:0.1762:0.2355	7.267	0.25410	255	0.89985	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2039.98	37	chr6	56608207	.	T	C	2039.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=930;ExcessHet=0.0000;FS=0.610;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.07;ReadPosRankSum=-9.340e-01;SOR=0.750	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	20	0	1	0
chr6	56615521	56615521	G	A	exonic	DST	.	nonsynonymous SNV	DST:NM_001723:exon24:c.C7946T:p.S2649F,	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	.	11	1508	2	1	0	4	0.0013245	.	.	635040	Hereditary_sensory_and_autonomic_neuropathy_type_6|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.012	B	0.012	B	.	.	0.723	N	.	.	-0.87	T	-0.711	T	0.253	T	0.386	1.274	10.16	5.94	2.822	5.878	20.359	0.278	0.0396840614909	.	.	9.96e-05	0	0	0	0	7.515e-05	0.0011	0.0004	7.76e-05	12	154602	rs773910675	8.21e-05	8.209e-05	6.671e-05	9.764e-05	0.0007	7.002e-05	6.553e-05	0.0002	0.0002	2.988e-05	4.474e-05	0	0	3.746e-05	0.0007	6.295e-05	0.0002	0.0003	4.597e-05	4.594e-05	6.425e-05	2.686e-05	0.0002	2.108e-05	1.526e-05	4.88e-06	1.83e-06	2.407e-05	0	6.539e-05	0	0	0	0	2.94e-05	0.0009	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.012	0.16265	B	0.012	0.16012	B	.	.	.	.	.	.	.	.	.	.	-0.87	0.74583	T	-1.93	0.44852	N	0.482	0.51672	-0.7106	0.59923	T	0.253	0.62281	T	7	0.13850069	0.26341	T	0.039684	0.58951	D	0.278	0.59497	0.433	0.48336	0.469922601075	0.46621	.	.	.	.	.	.	.	.	.	.	-0.163587	0.26211	T	-0.162239	0.58149	T	0.167305678129196	0.18395	T	0.633137	0.24745	T	.	.	.	.	.	.	.	.	-4.165	0.26243	T	.	.	0.506	0.64866	A	.	.	2.928370	0.38899	20.8	0.99665701449933863	0.78266	0.75597	0.37022	D	AEFDGBCI	0.652271	0.62573	D	-0.0423596615365446	0.39943	2.363898	0.0716506407324226	0.43131	2.621185	0.998052716799278	0.36367	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.94	5.94	0.96165	6.019000	0.70471	8.655000	0.77949	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.539000	0.29915	0.0:0.0:1.0:0.0	20.359	0.98850	291	0.88420	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	848.98	34	chr6	56615521	.	G	A	848.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=777;ExcessHet=0.0000;FS=1.086;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=0.435;SOR=0.960	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1406	20	0	1	0
chr6	56640044	56640044	C	T	exonic	DST	.	nonsynonymous SNV	DST:NM_001723:exon5:c.G893A:p.R298H	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	.	3	1516	2	1	0	4	0.00131752	.	.	308399	Hereditary_sensory_and_autonomic_neuropathy_type_6|Inborn_genetic_diseases|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency|not_provided	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.757	P	0.224	B	0.005	N	0.621	D	1.32	L	-3.31	D	-0.432	T	0.465	T	0.202	1.752	11.82	-1.43	-0.528	0.381	10.580	0.191	0.0501421497022	0.0006	.	0.0008	0.0003	0	0	0.0005	0.0013	0	0.0002	0.0008344	129	154602	rs41267671	0.0013	0.0013	0.0013	0.0012	0.0016	0.0012	0.0012	0.0015	0.0015	5.974e-05	6.709e-05	0	2.52e-05	0.0002	0.0009	0.0016	0.0008	0.0002	0.0006	0.0006	0.0007	0.0006	0.0012	0.0005	0.0005	0.0010	0.0009	0.0003	0	0.0001	0	0	0	0	0.0012	0	0	0.089	0.32141	T	0.003	0.76473	D	0.666	0.41077	P	0.224	0.37970	B	0.005169	0.33034	N	0.138874	.	.	.	1.355	0.33814	L	-3.31	0.93835	D	-3.11	0.74900	D	0.147	0.20129	-0.4319	0.71004	T	0.465	0.79328	T	9	0.032138377	0.01360	T	0.050142	0.64117	D	0.191	0.46948	.	.	0.604599270341	0.60143	0.33726535844226246	0.33639	0.149928696148	0.16913	0.21181973815	0.00891	T	0.113874	0.46534	T	-0.300326	0.08628	T	-0.228802	0.51888	T	0.0408514391481621	0.03845	T	0.808619	0.47377	T	.	.	.	.	.	.	.	.	-10.348	0.81821	D	.	.	0.075	0.05317	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.597036	0.20419	14.74	0.95203069184268374	0.26401	0.21411	0.21392	N	AEFBHCI	0.173979	0.30109	N	-0.847916856057139	0.12101	0.5878404	-0.857821913754664	0.13099	0.6776952	0.999989794175856	0.51787	0.706548	0.73137	0	0.633656	0.55848	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.45	-1.43	0.08418	0.468000	0.21763	-2.572000	0.03594	-0.800000	0.03169	0.043000	0.21118	0.000000	0.08366	0.713000	0.34548	0.0:0.5525:0.0:0.4475	10.580	0.44438	314	0.87270	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	963.98	36	chr6	56640044	.	C	T	963.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.685;DP=804;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.15;ReadPosRankSum=1.38;SOR=0.755	GT:AD:DP:GQ:PL	0/1:55,40:95:99:978,0,1352	20	0	1	0
chr6	56640283	56640283	G	C	exonic	DST	.	nonsynonymous SNV	DST:NM_001723:exon4:c.C739G:p.P247A	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	.	2	1475	43	2	0	47	0.0156823	.	.	308408	Inborn_genetic_diseases|Hereditary_sensory_and_autonomic_neuropathy_type_6|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency|not_provided|DST-related_disorder	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.79	T	0.172	B	0.075	B	0.074	N	0.957	N	0.69	N	1.06	T	-1.056	T	0.133	T	0.136	0.616	7.316	1.56	0.046	0.428	7.512	0.033	.	0.0018	0.00299521	0.0033	0.0004	0.0012	0	0.0002	0.0030	0.0022	0.0107	0.0031177	482	154602	rs151271595	0.0028	0.0028	0.0025	0.0030	0.0102	0.0027	0.0027	0.0096	0.0094	0.0006	0.0014	0.0029	2.519e-05	0.0004	0.0095	0.0024	0.0033	0.0102	0.0018	0.0018	0.0017	0.0019	0.0097	0.0016	0.0016	0.0075	0.0067	0.0006	0	0.0023	0.0037	0.0002	0	0.0034	0.0022	0.0038	0.0097	0.052	0.52492	T	0.429	0.17217	T	0.023	0.25584	B	0.029	0.28327	B	0.073886	0.21317	N	0.395716	.	.	.	1.24	0.30952	L	1.06	0.82715	T	-1.84	0.59545	N	0.124	0.18512	-1.0564	0.12672	T	0.133	0.44661	T	9	0.0032327473	0.00055	T	.	.	.	0.033	0.08068	.	.	0.366092821824	0.36220	0.3893332817011348	0.38848	0.139746512027	0.15750	0.298681229353	0.10204	T	0.010347	0.16227	T	-0.41251	0.01913	T	-0.357357	0.38358	T	0.00171214513294426	0.00017	T	0.842416	0.51891	T	.	.	.	.	.	.	.	.	-4.492	0.30784	T	.	.	0.061	0.01143	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.025952	0.14055	10.63	0.74773530716296321	0.10821	0.50708	0.28725	D	AEFDGBHCI	0.156510	0.28188	N	-0.715540201429122	0.15585	0.7867031	-0.601513759295084	0.19453	1.043817	0.999999734906887	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.95	1.56	0.22423	0.441000	0.21325	1.420000	0.26356	0.676000	0.76740	0.773000	0.29391	0.931000	0.28545	0.995000	0.73285	0.0:0.3053:0.1732:0.5215	7.512	0.26746	314	0.87270	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.07143	6500.68	36	chr6	56640283	.	G	C	6500.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.020e+00;DP=1137;ExcessHet=0.3300;FS=3.219;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=0.525;SOR=0.914	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	3	0
chr6	57054057	57054057	A	G	exonic	KIAA1586	.	nonsynonymous SNV	KIAA1586:NM_001286274:exon3:c.A1477G:p.I493V	.	.	434	1086	2	0	0	2	0.000919963	.	.	2359511	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.45	T	0.0	B	0.001	B	.	.	1.000	N	0	N	2.02	T	-0.908	T	0.007	T	0.086	0.301	5.628	1.41	0.176	2.644	5.627	0.019	0.00167628844764	0.0002	.	0.0001	0.0001	0	0	0	0.0002	0	0.0001	0.0001294	20	154602	rs147271286	6.925e-05	6.978e-05	6.959e-05	6.891e-05	0.0043	5.793e-05	5.404e-05	0.0030	0.0026	0.0005	4.511e-05	0	0	0	0.0043	3.604e-05	0.0002	6.992e-05	3.287e-05	3.283e-05	5.14e-05	1.346e-05	5.885e-05	1.261e-05	7.98e-06	1.973e-05	1.125e-05	0	0	0	0	0	0	0	5.885e-05	0.0005	0	0.205	0.20230	T	0.35	0.23638	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999988	0.18198	N	0.695	0.17993	N	2.02	0.21119	T	-0.28	0.11547	N	0.227	0.25499	-0.9079	0.47109	T	0.007	0.02598	T	9	0.054757535	0.05881	T	0.001676	0.02753	T	0.019	0.03383	.	.	0.0551355673512	0.04727	0.02415413279898782	0.02366	0.030042904158	0.03099	0.56442296505	0.47891	T	0.012204	0.10769	T	-0.447951	0.01161	T	-0.689544	0.06415	T	0.0354195467243455	0.02880	T	0.555444	0.19245	T	0.050615285	0.09171	0.0693522	0.14601	0.050615285	0.09171	0.0693522	0.14601	-4.039	0.24385	T	.	.	0.069	0.03811	B	.;.	.;.	1.368456	0.17782	13.37	0.79567598744896406	0.12800	0.73597	0.35999	D	AEFBCI	0.070436	0.13982	N	-0.760185516113316	0.14358	0.7145654	-0.60024960902381	0.19486	1.045725	0.101579239144028	0.16383	0.562547	0.31514	0	0.546412	0.12157	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	3.85	1.41	0.21461	2.957000	0.48830	0.761000	0.21315	0.665000	0.62972	0.766000	0.29311	0.000000	0.08366	0.998000	0.85391	0.7673:0.0:0.2327:0.0	5.627	0.16769	282	0.88846	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	623.98	33	chr6	57054057	.	A	G	623.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=802;ExcessHet=0.0000;FS=0.799;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.06;ReadPosRankSum=1.78;SOR=0.794	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1149	20	0	1	0
chr6	57100822	57100822	A	G	exonic	ZNF451	.	nonsynonymous SNV	ZNF451:NM_001257273:exon4:c.A406G:p.T136A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.0	B	0.001	B	.	.	1.000	D	0	N	-0.32	T	-1.084	T	0.050	T	0.049	2.319	13.71	1.36	0.144	0.098	4.204	0.041	0.00792690179597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.341	0.92824	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	.	.	.	-0.32	0.68181	T	-0.54	0.16598	N	0.074	0.04790	-1.0844	0.06517	T	0.050	0.21300	T	9	0.08043462	0.13055	T	0.007927	0.21033	T	0.041	0.10877	0.212	0.13066	0.384584525793	0.38071	.	.	.	.	.	.	.	.	.	.	-0.223807	0.17477	T	-0.559259	0.16447	T	0.113398691900786	0.13773	T	0.330167	0.06908	T	.	.	.	.	.	.	.	.	-4.016	0.24042	T	.	.	0.103	0.30022	B	.;.	.;.	1.767186	0.22475	15.63	0.99388317396371351	0.62202	0.54503	0.29632	D	AEFBCI	0.077446	0.15603	N	-0.571970491979564	0.19799	1.03911	-0.405652166820033	0.24830	1.361971	0.749028090443848	0.23330	0.562547	0.31514	0	0.653731	0.59785	0	0.463624	0.06942	0	0.508809	0.08732	0	.	.	5.14	1.36	0.21139	0.089000	0.14843	2.885000	0.35353	0.691000	0.84096	0.978000	0.35038	0.996000	0.32793	0.988000	0.63387	0.6433:0.1749:0.1818:0.0	4.204	0.09936	702	0.57624	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1257.98	38	chr6	57100822	.	A	G	1257.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=0.642;SOR=0.634	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr6	63580034	63580034	-	T	exonic	PTP4A1	.	frameshift insertion	PTP4A1:NM_001385266:exon6:c.425dupT:p.S147Ffs*55,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	1298.17	46	chr6	63580033	.	AT	A,ATT	1298.17	.	AC=12,2;AF=0.300,0.050;AN=40;BaseQRankSum=0.307;DP=1171;ExcessHet=14.4320;FS=0.603;InbreedingCoeff=-0.5084;MLEAC=11,1;MLEAF=0.275,0.025;MQ=60.00;MQRankSum=0.00;QD=1.92;ReadPosRankSum=-1.130e-01;SOR=0.762	GT:AD:DP:GQ:PL	0/1:40,7,4:53:46:46,0,883,102,777,1022	6	0	12	1
chr6	63712471	63712471	A	T	exonic	PHF3	.	nonsynonymous SNV	PHF3:NM_001370349:exon15:c.A4619T:p.N1540I	.	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	B	0.001	B	0.237	N	1.000	N	0.805	L	2.16	T	-0.968	T	0.007	T	0.05	-0.886	0.468	-7.82	-1.062	-0.505	2.210	0.005	0.00374294474964	.	.	4.134e-05	0	0	0	0	6.014e-05	0.0011	0	4.53e-05	7	154602	rs538720054	2.326e-05	2.326e-05	1.77e-05	2.888e-05	0.0002	1.674e-05	1.477e-05	3.765e-05	2.662e-05	2.988e-05	2.237e-05	0	0	0	0.0002	2.069e-05	1.656e-05	8.115e-05	4.596e-05	4.593e-05	1.285e-05	8.057e-05	0.0006	2.108e-05	1.526e-05	0.0002	8.989e-05	0	0	0	0	0	0	0	5.88e-05	0	0.0006	0.072	0.34982	T	0.126	0.35205	T	0.001	0.07471	B	0.001	0.04355	B	0.237250	0.15790	N	0.526318	1	0.08975	N	1.935	0.51832	L	2.16	0.19166	T	-1.38	0.34198	N	0.107	0.13911	-0.9683	0.37551	T	0.007	0.02478	T	9	0.036755472	0.01991	T	0.003743	0.08682	T	0.005	0.00259	0.208	0.12497	0.043077524339	0.03247	0.28724164885222697	0.28637	0.0935103000798	0.10561	0.296172618866	0.09832	T	0.027198	0.19967	T	-0.556945	0.00265	T	-0.778111	0.02511	T	0.039443909522794	0.03590	T	0.658834	0.26791	T	0.06287666	0.13181	0.051674526	0.08365	0.06287666	0.13180	0.051674526	0.08364	-4.192	0.26635	T	.	.	0.133	0.28863	B	.;.	.;.	0.619182	0.09878	6.637	0.36253163798156152	0.02321	0.14065	0.18203	N	AEFBI	0.072086	0.14374	N	-1.41216059047866	0.02531	0.1118918	-1.50352508620766	0.02317	0.1063686	0.999994535990272	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.54	-7.82	0.01069	-0.586000	0.05880	0.058000	0.14093	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.3862:0.0811:0.3106:0.2221	2.210	0.03703	788	0.46569	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2391.98	40	chr6	63712471	.	A	T	2391.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.139e+00;DP=898;ExcessHet=0.0000;FS=3.693;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.77;ReadPosRankSum=0.077;SOR=0.467	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1016	20	0	1	0
chr6	63712609	63712609	G	A	exonic	PHF3	.	nonsynonymous SNV	PHF3:NM_001370349:exon15:c.G4757A:p.R1586Q	.	.	423	1075	23	1	0	25	0.0114943	.	.	3221710	PHF3-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.072	B	0.004	B	0.218	N	1.000	N	0.46	N	2.04	T	-0.938	T	0.010	T	0.083	-0.205	3.004	3.04	0.368	1.564	9.355	0.012	0.0101260629571	0.0028	0.00179712	0.0033	0.0004	0.0018	0	0.0061	0.0044	0.0066	0.0018	0.0032535	503	154602	rs116365286	0.0038	0.0038	0.0039	0.0037	0.0246	0.0037	0.0037	0.0213	0.0201	0.0008	0.0018	0.0131	2.522e-05	0.0076	0.0246	0.0036	0.0046	0.0024	0.0030	0.0030	0.0028	0.0032	0.0033	0.0028	0.0027	0.0030	0.0028	0.0007	0.0011	0.0029	0.0121	0.0004	0.0086	0.0136	0.0033	0.0028	0.0021	0.002	0.72154	D	0.166	0.30828	T	0.072	0.23997	B	0.004	0.10090	B	0.217659	0.16213	N	0.447307	1	0.08975	N	2.455	0.71248	M	2.04	0.20808	T	-0.56	0.17003	N	0.078	0.05287	-0.9379	0.42947	T	0.010	0.03719	T	9	0.0025335848	0.00038	T	0.010126	0.26302	T	0.012	0.01476	.	.	0.102598925029	0.09809	0.23089944437456408	0.23004	0.0869291245941	0.09802	0.213840961456	0.00985	T	0.021964	0.17018	T	-0.581734	0.00188	T	-0.60987	0.11996	T	0.0199308842009431	0.00694	T	0.773423	0.40508	T	0.0609732	0.12573	0.0769627	0.17097	0.0609732	0.12573	0.0769627	0.17097	-2.514	0.05877	T	.	.	0.081	0.08033	B	.;.	.;.	2.941087	0.39102	20.9	0.61615258606274415	0.06753	0.60669	0.31261	D	AEFBI	0.131429	0.25036	N	-0.755011647798343	0.14497	0.7226652	-0.653372715211421	0.18131	0.9672387	0.993928747607359	0.33413	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.76	3.04	0.34171	0.868000	0.27635	3.924000	0.40490	-0.135000	0.12811	0.014000	0.18986	0.993000	0.31925	0.948000	0.49324	0.2852:0.0:0.7148:0.0	9.355	0.37322	788	0.46569	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1915.98	40	chr6	63712609	.	G	A	1915.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.68;DP=897;ExcessHet=0.0000;FS=9.434;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=-9.390e-01;SOR=1.120	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1016	20	0	1	0
chr6	63778108	63778108	T	C	exonic	EYS	.	nonsynonymous SNV	EYS:NM_001142800:exon40:c.A7796G:p.H2599R	Retinitis pigmentosa 25	.	0	1508	13	1	0	15	0.00494886	.	.	438326	Retinitis_pigmentosa_25|not_provided|Retinitis_pigmentosa	MONDO:MONDO:0011272,MedGen:C1864446,OMIM:602772,Orphanet:791|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.35	T	0.087	B	0.029	B	0.072	N	1.000	D	0.11	N	-1.49	T	-1.085	T	0.036	T	0.169	1.058	9.321	1.47	0.020	1.000	7.154	0.007	.	0.0079	0.00459265	0.0068	0.0018	0.0024	0	0.0037	0.0082	0	0.0082	0.0019857	307	154602	rs74636274	0.0082	0.0079	0.0084	0.0081	0.0095	0.0081	0.0081	0.0093	0.0093	0.0014	0.0038	0.0013	5.597e-05	0.0026	0.0039	0.0095	0.0055	0.0078	0.0058	0.0058	0.0062	0.0053	0.0093	0.0054	0.0053	0.0087	0.0085	0.0015	0	0.0075	0.0009	0	0.0019	0.0034	0.0093	0.0052	0.0060	0.005	0.63226	D	0.037	0.51737	D	0.087	0.24971	B	0.029	0.21540	B	0.072010	0.21436	N	0.285145	0.999343	0.21331	N	0.92	0.23413	L	-1.52	0.81478	D	-2.26	0.50502	N	0.153	0.15749	-1.0855	0.06316	T	0.036	0.15465	T	10	0.0058834553	0.00132	T	.	.	.	0.119	0.33137	.	.	0.345405024496	0.34151	0.41332976369758667	0.41248	0.0097119950357	0.00885	0.4694917202	0.34610	T	0.033852	0.23084	T	-0.381968	0.03028	T	-0.313486	0.43283	T	0.0200093719752599	0.00702	T	0.573243	0.20505	T	0.11788116	0.27783	0.13753471	0.32870	0.109312065	0.25844	0.1497496	0.35345	-7.51	0.60797	D	0.14717333319769071	0.17034	0.088	0.11893	B	.;.	.;.	1.688403	0.21515	15.23	0.93350850016474618	0.23085	0.67545	0.33472	D	AEFBI	0.101609	0.20403	N	-0.459802705925618	0.23408	1.256894	-0.48992454941763	0.22429	1.218247	0.00732365359616575	0.11439	0.615465	0.37627	0	0.633656	0.55848	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	4.02	1.47	0.21832	1.047000	0.29976	-0.581000	0.08376	0.665000	0.62972	1.000000	0.71638	0.437000	0.24884	0.038000	0.14061	0.0:0.1867:0.0:0.8133	7.154	0.24805	784	0.47045	.;Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	1651.98	34	chr6	63778108	.	T	C	1651.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.188e+00;DP=825;ExcessHet=0.0000;FS=0.618;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.39;ReadPosRankSum=0.594;SOR=0.596	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1186	20	0	1	0
chr6	64307042	64307042	A	T	exonic	EYS	.	nonsynonymous SNV	EYS:NM_001142800:exon30:c.T6119A:p.V2040D	Retinitis pigmentosa 25	.	7	1481	32	2	0	36	0.012008	.	.	140960	Retinitis_pigmentosa|not_specified|Retinitis_pigmentosa_25|not_provided	Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN169374|MONDO:MONDO:0011272,MedGen:C1864446,OMIM:602772,Orphanet:791|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.62	T	1.0	D	0.995	D	.	.	1.000	D	0	N	-0.05	T	-0.903	T	0.130	T	0.509	3.985	20.4	5.08	1.916	4.955	12.403	0.296	0.106531053532	.	0.000998403	0.0019	0.0005	0.0051	0	0	0.0024	0.0053	0.0018	0.0004722	73	154602	rs201580493	0.0011	0.0011	0.0011	0.0012	0.0277	0.0011	0.0011	0.0242	0.0228	0.0008	0.0035	0.0051	0	2.045e-05	0.0277	0.0008	0.0027	0.0013	0.0017	0.0017	0.0014	0.0019	0.0068	0.0015	0.0014	0.0058	0.0054	0.0005	0.0055	0.0068	0.0061	0	0	0.0306	0.0011	0.0081	0.0006	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.992	0.83170	D	.	.	.	.	0.982384	0.39886	D	0.345	0.11182	N	-0.05	0.63403	T	-0.91	0.25332	N	0.416	0.45615	-0.9029	0.47684	T	0.130	0.43968	T	9	0.009310007	0.00210	T	0.106531	0.78218	D	0.296	0.61616	.	.	0.657879018388	0.65502	0.17429425445175542	0.17348	0.0575821773267	0.06375	0.401550829411	0.25284	T	0.041997	0.26039	T	-0.326218	0.06401	T	-0.242522	0.50553	T	0.0362125280277795	0.03018	T	0.586341	0.21412	T	0.37975034	0.59298	0.38749006	0.63616	0.4166158	0.61867	0.3902194	0.63822	-4.209	0.26882	T	0.646343039558821	0.71780	0.586	0.74265	P	.;.	.;.	3.585603	0.50567	23.0	0.98577048346978069	0.43193	0.91081	0.52822	D	AEBI	0.447865	0.50333	N	0.269837877087226	0.54627	3.627768	0.323269287413935	0.56910	3.855168	0.0040926313466878	0.10414	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	5.489000	0.66595	3.899000	0.40339	0.756000	0.94297	0.852000	0.30477	0.081000	0.22384	0.993000	0.69303	1.0:0.0:0.0:0.0	12.403	0.54755	455	0.79073	.;Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1068.98	34	chr6	64307042	.	A	T	1068.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.227e+00;DP=776;ExcessHet=0.0000;FS=4.251;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=0.759;SOR=0.368	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1170	20	0	1	0
chr6	64626147	64626147	T	C	exonic	EYS	.	nonsynonymous SNV	EYS:NM_001142800:exon23:c.A3542G:p.N1181S	Retinitis pigmentosa 25	.	.	.	.	.	.	.	.	.	.	978311	Autosomal_recessive_retinitis_pigmentosa|Retinitis_pigmentosa_25	MedGen:C0339526|MONDO:MONDO:0011272,MedGen:C1864446,OMIM:602772,Orphanet:791	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	0.058	B	0.031	B	.	.	1.000	N	1.9	L	-3.13	D	-0.666	T	0.414	T	0.068	1.251	10.08	-0.897	0.073	0.381	1.224	0.209	0.153187060853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.174e-06	7.525e-06	5.66e-06	8.731e-06	0.0002	3.63e-06	2.65e-06	2e-06	1.32e-06	0	0	0	0	0	0.0002	5.571e-06	5.192e-05	0	6.571e-06	6.566e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.416e-05	0	0	0	0	0.033	0.44358	D	0.008	0.67890	D	0.047	0.22967	B	0.018	0.21939	B	.	.	.	.	1	0.08975	N	1.095	0.27400	L	-3.13	0.92829	D	-3.52	0.68412	D	0.325	0.38746	-0.6659	0.62013	T	0.414	0.76170	T	9	0.15728211	0.29603	T	0.153187	0.83449	D	0.209	0.49871	0.577	0.70217	0.270001397563	0.26616	0.3087994872107439	0.30792	0.018726641329	0.01823	0.317406415939	0.13028	T	0.26644	0.63839	T	-0.0899386	0.38086	T	-0.366967	0.37243	T	0.0790714919567108	0.09867	T	0.749125	0.37025	T	0.14147007	0.32596	0.15773664	0.36868	0.14147007	0.32596	0.15773664	0.36867	-6.272	0.48595	T	0.6260229408776581	0.69488	0.124	0.27672	B	.;.	.;.	1.317646	0.17215	13.03	0.98426784040130755	0.41354	0.02414	0.06827	N	AEFI	0.029901	0.02908	N	-0.817587143986233	0.12861	0.6296849	-0.897412353801333	0.12155	0.623613	1.20935573640673E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.39	-0.897	0.10018	0.314000	0.19182	-0.105000	0.11895	0.663000	0.56723	0.268000	0.25027	0.000000	0.08366	0.570000	0.30651	0.1558:0.1578:0.1599:0.5265	1.224	0.01813	711	0.56613	.;EGF-like, conserved site|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	468.98	35	chr6	64626147	.	T	C	468.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.436;DP=728;ExcessHet=0.0000;FS=4.309;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.20;ReadPosRankSum=0.670;SOR=0.460	GT:AD:DP:GQ:PL	0/1:27,19:46:99:483,0,738	20	0	1	0
chr6	65302547	65302547	-	T	exonic	LOC441155	.	frameshift insertion	LOC441155:NM_001271675:exon2:c.27dupT:p.Y13Lfs*8,	.	.	464	1057	1	0	0	1	0.000472813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0032	0.0076	0.0104	0	0	0.0012	0	0.0110	0.0001537	4	26028	rs541700729	0.0017	0.0061	0.0018	0.0015	0.0022	0.0016	0.0016	0.0021	0.0020	0.0012	0.0009	0.0006	0.0002	0.0001	0.0015	0.0022	0.0010	0.0010	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	9.384e-05	0.0002	0.0002	0.0004	0	6.695e-05	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	491.94	43	chr6	65302547	.	A	AT	491.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.558;DP=794;ExcessHet=0.0000;FS=24.583;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=28.61;MQRankSum=2.05;QD=8.20;ReadPosRankSum=-1.019e+00;SOR=0.025	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1206	20	0	1	0
chr6	65303724	65303724	C	G	exonic	LOC441155	.	nonsynonymous SNV	LOC441155:NM_001271675:exon2:c.C1203G:p.I401M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0053	0	0	0	.	0.0065	0	0	0.000461	12	26028	rs535713757	0.0032	0.0036	0.0032	0.0031	0.0041	0.0030	0.0030	0.0039	0.0039	0.0006	0.0022	0	3.18e-05	0.0035	0	0.0041	0.0040	0.0008	0.0023	0.0025	0.0028	0.0018	0.0037	0.0021	0.0020	0.0032	0.0030	0.0009	0.0032	0.0013	0	0	0.0023	0	0.0037	0.0030	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	80.05	11	chr6	65303724	.	C	G	80.05	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.778;DP=196;ExcessHet=0.0000;FS=6.154;InbreedingCoeff=-0.0297;MLEAC=1;MLEAF=0.024;MQ=27.00;MQRankSum=0.00;QD=7.28;ReadPosRankSum=-1.790e-01;SOR=1.447	GT:AD:DP:GQ:PL	0/0:11,0:11:30:0,30,450	20	0	1	0
chr6	65304422	65304422	T	C	exonic	LOC441155	.	nonsynonymous SNV	LOC441155:NM_001271675:exon2:c.T1901C:p.V634A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	47.99	14	chr6	65304422	.	T	C	47.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.74;DP=324;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0252;MLEAC=1;MLEAF=0.024;MQ=26.62;MQRankSum=0.349;QD=4.36;ReadPosRankSum=0.199;SOR=0.180	GT:AD:DP:GQ:PL	0/0:13,0:13:36:0,36,540	20	0	1	0
chr6	65495077	65495077	C	T	exonic	EYS	.	nonsynonymous SNV	EYS:NM_198283:exon3:c.G334A:p.V112I	Retinitis pigmentosa 25	.	0	1422	93	7	0	107	0.0362589	.	.	140963	not_specified|not_provided|Retinitis_pigmentosa|Retinitis_pigmentosa_25	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0011272,MedGen:C1864446,OMIM:602772,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.23	T	0.0	B	0.0	B	.	.	1.000	N	-0.205	N	-1.53	D	-0.926	T	0.165	T	0.028	-0.528	1.597	0.626	-0.077	1.446	2.280	0.191	.	0.0041	0.00858626	0.0086	0.0012	0.0048	0.0005	0.0002	0.0065	0.0110	0.0323	0.0077425	1197	154602	rs112609906	0.0053	0.0053	0.0043	0.0063	0.0337	0.0052	0.0052	0.0327	0.0323	0.0009	0.0055	0.0626	0.0002	5.617e-05	0.0284	0.0020	0.0098	0.0337	0.0058	0.0058	0.0048	0.0068	0.0385	0.0055	0.0053	0.0340	0.0322	0.0007	0	0.0153	0.0637	0.0006	9.427e-05	0.0102	0.0027	0.0095	0.0385	1.0	0.00964	T	0.537	0.09863	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999995	0.08975	N	-0.975	0.01213	N	-1.54	0.89496	D	-0.16	0.09460	N	0.055	0.02658	-0.9262	0.44688	T	0.165	0.50258	T	9	0.0017894804	0.00023	T	.	.	.	0.191	0.46948	.	.	0.235664433957	0.23186	0.0246454282245008	0.02415	0.00995304507162	0.00909	0.290867894888	0.09049	T	0.037376	0.24453	T	-0.524892	0.00412	T	-0.503062	0.22032	T	0.00452867321037456	0.00048	T	0.430857	0.11714	T	0.019045109	0.00429	0.029319579	0.01257	0.018142622	0.00335	0.022801036	0.00298	-2.302	0.04835	T	0.02652903951531157	0.00038	0.055	0.00681	B	.;.;.;.	.;.;.;.	0.719570	0.10887	7.559	0.48228472243111892	0.04007	0.18982	0.20480	N	AEFCI	0.057285	0.10659	N	-0.778460120555386	0.13872	0.6866326	-0.610487569943459	0.19223	1.030442	1.30256985872255E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.7	0.626	0.16843	1.444000	0.34679	1.206000	0.24872	-0.172000	0.11096	1.000000	0.71638	0.929000	0.28499	0.587000	0.31065	0.1537:0.0872:0.16:0.5991	2.280	0.03859	916	0.20744	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	2400.98	34	chr6	65495077	.	C	T	2400.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.17;DP=888;ExcessHet=0.0000;FS=0.595;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.59;ReadPosRankSum=-7.580e-01;SOR=0.636	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1069	20	0	1	0
chr6	68930643	68930643	A	G	exonic	ADGRB3	.	nonsynonymous SNV	ADGRB3:NM_001704:exon4:c.A842G:p.D281G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.148	B	0.05	B	0.011	N	1.000	D	0.46	N	2.03	T	-1.068	T	0.019	T	0.47	2.849	15.49	5.15	2.069	8.854	15.273	0.142	0.00519295063287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.2	0.27591	T	0.148	0.27908	B	0.05	0.25278	B	0.011326	0.29573	N	0.341437	0.999941	0.51968	D	.	.	.	2.03	0.20959	T	-1.79	0.42191	N	0.433	0.47208	-1.0680	0.09858	T	0.019	0.07939	T	10	0.18910691	0.34496	T	0.005193	0.13218	T	0.142	0.37995	0.292	0.25400	0.043077524339	0.03247	0.38969288472407515	0.38884	0.289485884508	0.31360	0.708610057831	0.68392	T	0.057156	0.30487	T	-0.0843727	0.39000	T	-0.358972	0.38171	T	0.768987119197845	0.44378	D	0.923208	0.72041	D	0.26885882	0.49958	0.29216224	0.55243	0.26885882	0.49958	0.29216224	0.55242	-2.036	0.03319	T	.	.	0.283	0.51566	B	.;.	.;.	4.015241	0.59269	24.1	0.99463016259201753	0.65892	0.98150	0.80031	D	AEFI	0.899179	0.84329	D	0.0748218221774725	0.45290	2.788042	0.269048153239784	0.53740	3.541558	0.998313214443293	0.36741	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.15	5.15	0.70287	8.812000	0.91581	11.265000	0.91209	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.273	0.73422	943	0.12886	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1010.98	36	chr6	68930643	.	A	G	1010.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.634;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=-2.600e-02;SOR=0.658	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1293	20	0	1	0
chr6	69962835	69962835	G	A	exonic	COL19A1	.	nonsynonymous SNV	COL19A1:NM_001858:exon11:c.G991A:p.G331S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.833	P	0.669	P	0.000	D	1.000	D	2.955	M	-5.75	D	1.097	D	0.971	D	0.608	2.456	14.17	5.2	2.599	4.333	14.604	0.870	0.109269620332	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1294236513	1.375e-06	2.052e-06	1.368e-06	1.382e-06	1.806e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.806e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.66756	D	0.833	0.46172	P	0.669	0.53077	P	0.000213	0.47681	D	0.132704	0.976601	0.39291	D	3.775	0.95212	H	.	.	.	.	.	.	0.639	0.65159	1.097	0.99516	D	0.971	0.99091	D	10	0.9856405	0.98828	D	0.10927	0.78616	D	.	.	0.991	0.99904	0.676409406839	0.67366	0.8622976150248376	0.86193	.	.	0.573664188385	0.49195	T	0.841083	0.96294	D	0.106786	0.65018	D	-0.0843855	0.64583	T	0.990990161895752	0.81240	D	0.874613	0.58533	D	0.79001725	0.83274	0.7607314	0.85863	0.79001725	0.83276	0.7607314	0.85864	-8.98	0.67568	D	.	.	0.203	0.42749	B	.	.	4.397239	0.67907	25.2	0.95685738570186241	0.27554	0.88317	0.48190	D	AEFI	0.679220	0.64332	D	0.678838278342254	0.78246	6.833005	0.659050173898862	0.79286	7.050456	0.9875522483515	0.31292	0.651	0.46895	0	0.708844	0.79440	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.2	5.2	0.71720	4.465000	0.59876	11.784000	0.96188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	14.604	0.68060	679	0.60090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	797.98	33	chr6	69962835	.	G	A	797.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.540e-01;DP=728;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.78;ReadPosRankSum=0.098;SOR=0.607	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1034	20	0	1	0
chr6	70234894	70234894	C	G	exonic	COL9A1	.	nonsynonymous SNV	COL9A1:NM_078485:exon28:c.G1430C:p.R477P	Stickler syndrome, type IV	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.999	D	0.987	D	0.000	D	1.000	D	-0.2	N	-1.76	D	-0.282	T	0.345	T	0.641	3.462	17.73	4.87	1.439	7.563	14.648	0.561	0.143473125126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.346	0.17696	T	0.999	0.77913	D	0.987	0.77487	D	0.000002	0.62929	D	0.060728	1	0.81001	D	-0.53	0.02533	N	-1.76	0.83578	D	-2.88	0.60507	D	0.659	0.67995	-0.2824	0.75475	T	0.345	0.71012	T	10	0.78262323	0.77981	D	0.143473	0.82579	D	0.561	0.82003	0.467	0.53891	0.912420511958	0.91153	0.6657395501328037	0.66510	0.491154891297	0.47813	0.670825362206	0.62956	T	0.504345	0.82347	D	0.157477	0.69966	D	-0.0115717	0.69583	D	0.981120765209198	0.73735	D	0.838016	0.51077	T	0.59302646	0.72315	0.6458173	0.79292	0.59302646	0.72316	0.6458173	0.79293	-3.567	0.17381	T	.	.	0.294	0.52500	B	.;.	.;.	4.196750	0.63292	24.6	0.99109464510274503	0.52674	0.99022	0.90087	D	AEFBI	0.975820	0.99640	D	0.205129814946803	0.51446	3.325891	0.288855276159954	0.54887	3.652603	0.996807278208412	0.35023	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.74	4.87	0.62877	7.822000	0.84804	4.001000	0.41074	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.9303:0.0:0.0697	14.648	0.68381	781	0.47532	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	74.98	39	chr6	70234894	.	C	G	74.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.431e+00;DP=784;ExcessHet=0.0000;FS=34.211;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.27;ReadPosRankSum=1.48;SOR=4.973	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485	20	0	1	0
chr6	73363170	73363170	A	T	exonic	KHDC3L	.	nonsynonymous SNV	KHDC3L:NM_001017361:exon2:c.A245T:p.N82I,	Hydatidiform mole, recurrent, 2, Autosomal recessive	.	0	1517	5	0	0	5	0.00164528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.037	B	0.044	B	0.302	N	1.000	N	0	N	2.97	T	-0.920	T	0.005	T	0.232	0.926	8.771	-3.29	-0.683	0.488	5.151	0.027	0.00321673620981	.	0.000998403	0.0008	0	0	0.0080	0	8.994e-05	0.0011	0.0010	0.0006339	98	154602	rs199912037	0.0004	0.0004	0.0004	0.0005	0.0090	0.0004	0.0004	0.0082	0.0079	0	0	0.0001	0.0090	3.744e-05	0.0003	0.0001	0.0003	0.0013	0.0003	0.0003	0.0002	0.0004	0.0045	0.0002	0.0002	0.0030	0.0026	0	0	0	0	0.0045	9.418e-05	0	0.0001	0.0009	0.0015	0.089	0.32141	T	0.008	0.67890	D	0.037	0.20876	B	0.044	0.24394	B	0.302130	0.03961	N	1.529920	1	0.08975	N	0	0.06538	N	2.97	0.09450	T	-3.17	0.64363	D	0.358	0.39962	-0.9200	0.45554	T	0.005	0.01615	T	10	0.006955594	0.00158	T	0.003217	0.07087	T	0.027	0.05988	.	.	0.0401082797425	0.02173	0.14732868234087645	0.14654	0.686794028943	0.60348	0.38042652607	0.22317	T	0.032168	0.22369	T	-0.625182	0.00102	T	-0.667081	0.07796	T	0.0128637311089323	0.00220	T	0.548745	0.18852	T	0.21735929	0.44217	0.11693888	0.28230	0.21735929	0.44217	0.11693888	0.28229	-7.348	0.56536	T	.	.	0.226	0.45786	B	.	.	1.175619	0.15656	12.01	0.73791297199848116	0.10457	0.00979	0.03733	N	AEFDBI	0.028201	0.02440	N	-1.50089090968126	0.01844	0.08088489	-1.55814307893935	0.01920	0.08760866	5.24975606994639E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.52	-3.29	0.04706	0.478000	0.21922	1.264000	0.25249	-0.624000	0.04539	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.3744:0.1841:0.4415:0.0	5.151	0.14338	840	0.37365	KH-like RNA-binding domain|KH-like RNA-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1655.98	35	chr6	73363170	.	A	T	1655.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.800e-01;DP=825;ExcessHet=0.0000;FS=0.688;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=-3.590e-01;SOR=0.814	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1268	20	0	1	0
chr6	73500589	73500589	C	A	exonic	MTO1	.	nonsynonymous SNV	MTO1:NM_012123:exon12:c.C1933A:p.R645S	Combined oxidative phosphorylation deficiency 10, Autosomal recessive	YES	2	1516	4	0	0	4	0.00131752	.	.	389130	Mitochondrial_hypertrophic_cardiomyopathy_with_lactic_acidosis_due_to_MTO1_deficiency|not_provided|Abnormal_brain_morphology	MONDO:MONDO:0013865,MedGen:C4749921,OMIM:614702,Orphanet:314637|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	3.295	M	.	.	0.267	D	0.544	D	0.913	4.648	25.5	5.48	2.563	4.354	17.108	0.694	0.024494916297	.	.	4.963e-05	0	0	0	0	1.503e-05	0.0011	0.0002	3.88e-05	6	154602	rs746382157	3.287e-05	3.489e-05	2.044e-05	4.543e-05	0.0004	2.546e-05	2.251e-05	0.0003	0.0003	0	0	0	0	0	0.0003	6.298e-06	4.972e-05	0.0004	6.573e-06	6.568e-06	0	1.346e-05	6.553e-05	0	0	.	.	0	0	6.553e-05	0	0	0	0	0	0	0	0.014	0.78490	D	0.01	0.83351	D	1.0	0.90584	D	0.987	0.80445	D	0.000000	0.84330	D	0.000000	0.999998	0.81001	D	4.045	0.97016	H	.	.	.	-5.2	0.83695	D	0.756	0.87590	0.267	0.87016	D	0.544	0.83222	D	9	0.8349378	0.82651	D	0.024495	0.47488	T	0.694	0.88913	0.697	0.83406	0.881788646564	0.88063	0.8676891127275673	0.86733	0.939492545994	0.72166	0.608762145042	0.54140	T	0.627462	0.88409	D	0.254789	0.79048	D	0.420359	0.92755	D	0.974554538726807	0.70557	D	0.937606	0.99955	D	0.90945464	0.92244	0.83927643	0.90790	0.88609356	0.90176	0.85342854	0.91734	-11.166	0.80561	D	0.3926865676295587	0.48565	0.880	0.86921	P	.;.;.;.	.;.;.;.	5.264390	0.88397	29.6	0.99823969153537084	0.90677	0.94468	0.61262	D	AEFBI	0.644235	0.62056	D	0.859838627434628	0.89662	10.06419	0.79329861882849	0.89325	9.928327	0.783038553029033	0.23879	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.48	5.48	0.80675	4.742000	0.61798	7.493000	0.59393	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	17.108	0.86544	909	0.22467	.;.;.;GidA associated domain 3	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	952.98	33	chr6	73500589	.	C	A	952.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.504;DP=762;ExcessHet=0.0000;FS=3.125;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=0.213;SOR=1.067	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1091	20	0	1	0
chr6	73730508	73730508	G	C	exonic	CD109	.	nonsynonymous SNV	CD109:NM_001159587:exon4:c.G441C:p.K147N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.999	D	0.974	D	0.000	D	1.000	D	0.99	L	-0.81	T	-0.669	T	0.262	T	0.32	1.950	12.48	1.32	0.480	1.572	7.443	0.379	0.0681648577634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.084	0.41239	T	0.86	0.47373	P	0.561	0.49582	P	0.000063	0.52346	D	0.121974	0.927278	0.81001	D	1.685	0.43254	L	-0.81	0.73949	T	-2.44	0.53420	N	0.728	0.72925	-0.6692	0.61865	T	0.262	0.63350	T	10	0.7706835	0.77057	D	0.068165	0.70373	D	0.379	0.69696	0.605	0.73706	0.523082183605	0.51953	0.6049376649993708	0.60424	0.201168129084	0.22514	0.572387576103	0.49016	T	0.021601	0.16792	T	-0.0225458	0.48490	T	-0.270162	0.47803	T	0.874607993844681	0.52447	D	0.816118	0.47137	T	0.098481365	0.23229	0.10561609	0.25393	0.098481365	0.23229	0.10561609	0.25393	-5.553	0.42361	T	.	.	0.362	0.57355	A	.;.	.;.	3.296886	0.45244	22.1	0.99709601027882977	0.81213	0.80641	0.40226	D	AEFBI	0.267169	0.38393	N	-0.137678238521975	0.35760	2.058186	-0.153565321349564	0.33271	1.901473	0.696490180756331	0.22647	0.706548	0.73137	0	0.633656	0.55848	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.27	1.32	0.20897	1.740000	0.37852	3.183000	0.36666	-0.887000	0.02411	1.000000	0.71638	1.000000	0.68203	0.833000	0.39279	0.3949:0.0:0.6051:0.0	7.443	0.26364	886	0.28090	.;Alpha-2-macroglobulin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07692	68.99	34	chr6	73730508	.	G	C	68.99	.	AC=2;AF=0.077;AN=26;BaseQRankSum=-4.009e+00;DP=2245;ExcessHet=0.1072;FS=298.658;InbreedingCoeff=-0.1730;MLEAC=2;MLEAF=0.077;MQ=60.00;MQRankSum=0.00;QD=0.23;ReadPosRankSum=1.42;SOR=8.932	GT:AD:DP:GQ:PL	./.:106,0:106:0:0,0,2021	11	0	2	8
chr6	75134783	75134783	C	T	exonic	COL12A1	.	nonsynonymous SNV	COL12A1:NM_080645:exon17:c.G1975A:p.V659I	Bethlem myopathy 2	.	425	1093	4	0	0	4	0.00182648	.	.	456707	Cataract_16_multiple_types|not_provided|Ullrich_congenital_muscular_dystrophy_2|Bethlem_myopathy_2	MONDO:MONDO:0013411,MedGen:C3808377,OMIM:613763,Orphanet:91492,Orphanet:98992,Orphanet:98993,Orphanet:98995|MedGen:C3661900|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470,Orphanet:75840|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471,Orphanet:536516,Orphanet:610	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.09	T	0.999	D	0.876	P	0.000	D	0.994	D	1.665	L	-0.51	T	-0.311	T	0.358	T	0.537	4.445	23.7	5.0	1.472	7.294	17.072	0.130	0.0238414859479	0.0002	0.000199681	0.0002	0.0002	0.0005	0	0	0.0003	0	6.058e-05	0.0002458	38	154602	rs201408175	0.0003	0.0003	0.0003	0.0003	0.0019	0.0003	0.0003	0.0011	0.0008	5.977e-05	0.0004	0	5.039e-05	0	0.0019	0.0003	0.0004	0.0002	0.0003	0.0003	0.0003	0.0004	0.0008	0.0003	0.0002	0.0004	0.0004	4.814e-05	0	0.0002	0	0	0	0.0068	0.0006	0.0014	0.0008	0.126	0.27783	T	0.011	0.70582	D	0.999	0.77913	D	0.876	0.62173	P	0.000010	0.62929	D	0.000000	0.994285	0.42226	D	2.195	0.61839	M	-0.51	0.70597	T	-0.34	0.14588	N	0.701	0.70527	-0.3107	0.74685	T	0.358	0.72053	T	10	0.39493054	0.55158	T	0.023841	0.46816	T	0.285	0.60338	.	.	0.64897399116	0.64606	0.31827002040564345	0.31740	0.516357570132	0.49524	0.619515538216	0.55661	T	0.01369	0.39643	T	-0.178368	0.23978	T	-0.166029	0.57806	T	0.0565378317417017	0.06613	T	0.874313	0.58483	D	0.06160066	0.12773	0.081540644	0.18539	0.072060905	0.16002	0.0789776	0.17737	-6.079	0.49071	T	0.6903176469557571	0.76794	0.113	0.25067	B	.;.;.;.;.	.;.;.;.;.	4.704059	0.75506	26.3	0.99842518757665588	0.92316	0.99184	0.92469	D	AEFBI	0.872378	0.79420	D	0.545039620635377	0.69781	5.40592	0.527283067243848	0.69833	5.417013	0.999999999886967	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.87	5.0	0.66209	7.376000	0.78918	7.681000	0.65292	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.873:0.127:0.0	17.072	0.86451	845	0.36510	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	860.98	33	chr6	75134783	.	C	T	860.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.30;DP=761;ExcessHet=0.0000;FS=2.124;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=0.161;SOR=1.119	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1032	20	0	1	0
chr6	75138457	75138457	C	T	exonic	COL12A1	.	nonsynonymous SNV	COL12A1:NM_080645:exon14:c.G1729A:p.E577K	Bethlem myopathy 2	.	427	1083	12	0	0	12	0.00550964	.	.	455778	not_provided|Ullrich_congenital_muscular_dystrophy_2|Bethlem_myopathy_2	MedGen:C3661900|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470,Orphanet:75840|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471,Orphanet:536516,Orphanet:610	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.878	P	0.546	P	0.000	D	0.992	D	1.965	M	-2.24	D	0.284	D	0.616	D	0.907	3.086	16.31	5.79	2.726	3.615	20.022	0.590	0.0571540393042	0.0007	0.000199681	0.0008	0.0001	0.0009	0	0	0.0010	0.0022	0.0012	0.000718	111	154602	rs200201449	0.0005	0.0005	0.0004	0.0005	0.0019	0.0005	0.0004	0.0011	0.0009	5.982e-05	0.0004	0.0053	0	0	0.0019	0.0003	0.0008	0.0012	0.0005	0.0005	0.0005	0.0004	0.0015	0.0004	0.0003	0.0007	0.0005	0.0001	0	0.0004	0.0072	0	0	0.0034	0.0004	0	0.0015	0.031	0.53172	D	0.028	0.61642	D	0.807	0.48285	P	0.344	0.49068	B	0.000000	0.84330	D	0.000000	0.992293	0.41606	D	2.98	0.85499	M	-2.26	0.87830	D	-1.37	0.38540	N	0.713	0.71942	0.284	0.87307	D	0.616	0.86431	D	10	0.03610739	0.01893	T	0.057154	0.66863	D	0.590	0.83636	.	.	0.956005400358	0.95553	0.666774553540997	0.66615	0.599886947289	0.55091	0.594975709915	0.52195	T	0.025985	0.47311	T	0.0909913	0.63301	D	0.317393	0.88980	D	0.0677321340080628	0.08330	T	0.979902	0.94158	D	0.23888248	0.46771	0.25632364	0.51330	0.23387119	0.46198	0.23323806	0.48507	-7.203	0.60647	T	0.4721309161829964	0.55238	0.317	0.54265	B	.;.;.;.;.	.;.;.;.;.	5.581303	0.92305	32	0.99813577759892969	0.89708	0.95148	0.63614	D	AEFBI	0.510484	0.53951	D	0.465479132832166	0.65087	4.778534	0.502282263181838	0.68143	5.179722	0.999999999932196	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.79	5.79	0.91751	3.684000	0.54403	7.592000	0.61280	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.281000	0.24041	0.0:1.0:0.0:0.0	20.022	0.97507	835	0.38313	Fibronectin type III;Fibronectin type III;.;.;Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2198.98	33	chr6	75138457	.	C	T	2198.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.233e+00;DP=774;ExcessHet=0.0000;FS=2.995;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=24.71;ReadPosRankSum=-1.419e+00;SOR=0.405	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1128	20	0	1	0
chr6	75256109	75256109	G	C	exonic	TMEM30A	.	nonsynonymous SNV	TMEM30A:NM_001143958:exon6:c.C971G:p.T324S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.89	T	0.006	B	0.007	B	0.000	D	0.979	D	-0.205	N	.	.	-1.007	T	0.045	T	0.057	2.374	13.90	5.51	2.611	9.191	19.481	0.170	0.00136452390785	.	.	6.6e-05	0	0	0	0	5.19e-05	0	0.0003	4.53e-05	7	154602	rs758427537	2.903e-05	2.873e-05	2.2e-05	3.614e-05	0.0002	2.174e-05	1.928e-05	0.0001	9.579e-05	0	0	0	0.0002	0	0.0002	1.272e-05	3.346e-05	0.0002	1.316e-05	1.313e-05	0	2.693e-05	2.943e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.943e-05	0	0	0.242	0.19710	T	0.31	0.25907	T	0.006	0.13644	B	0.003	0.12992	B	0.000001	0.84330	D	0.098040	0.978565	0.39474	D	-0.345	0.03330	N	.	.	.	0.1	0.05810	N	0.08	0.06990	-1.0072	0.27789	T	0.045	0.19356	T	9	0.08153123	0.13357	T	0.001365	0.01961	T	0.170	0.43303	0.156	0.05964	0.620476206791	0.61740	0.6072220041961444	0.60654	0.494461366654	0.48007	0.593554615974	0.51995	T	0.051761	0.28969	T	-0.412072	0.01925	T	-0.53213	0.19075	T	0.187973715993565	0.19724	T	0.662434	0.27137	T	0.14438339	0.33143	0.17929204	0.40654	0.14438339	0.33143	0.17929204	0.40653	-2.917	0.09736	T	.	.	0.082	0.19639	B	.;.;.	.;.;.	2.455567	0.31623	18.80	0.96391804720678076	0.29654	0.99842	0.99792	D	AEFBI	0.932746	0.92356	D	-0.135794628354604	0.35840	2.063866	0.141406363973524	0.46689	2.910819	0.999999999852451	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	9.319000	0.95469	11.121000	0.86550	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.481	0.95001	853	0.34956	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2022.08	33	chr6	75256109	.	G	C	2022.08	.	AC=2;AF=0.048;AN=42;DP=745;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.70;SOR=1.942	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1151	20	1	0	0
chr6	75702663	75702665	TGT	-	exonic	SENP6	.	nonframeshift deletion	SENP6:NM_001100409:exon18:c.2286_2288del:p.V764del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.949e-07	6.84e-07	0	1.402e-06	3.078e-05	0	0	.	.	3.078e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1369.94	33	chr6	75702662	.	CTGT	C	1369.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.875;DP=761;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.56;ReadPosRankSum=-5.160e-01;SOR=0.751	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1181	20	0	1	0
chr6	75950798	75950798	G	T	exonic	IMPG1	.	nonsynonymous SNV	IMPG1:NM_001282368:exon12:c.C1354A:p.P452T	Macular dystrophy, vitelliform, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1027478	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.43	T	0.008	B	0.006	B	0.275	N	1.000	N	0	N	2.17	T	-0.974	T	0.007	T	0.075	-0.037	3.825	-1.21	0.015	-0.411	0.977	0.004	0.00432773065192	7.7e-05	0.000798722	0.0003	0	8.747e-05	0	0	3.002e-05	0	0.0018	0.0002458	38	154602	rs201155813	0.0001	0.0001	6.944e-05	0.0002	0.0014	0.0001	9.702e-05	0.0012	0.0011	0	0.0003	0	5.039e-05	0	0.0003	2.159e-05	0.0002	0.0014	0.0002	0.0002	7.708e-05	0.0002	0.0010	0.0001	8.711e-05	0.0006	0.0005	0	0	0.0010	0	0	0	0	4.409e-05	0	0.0010	0.562	0.06341	T	0.668	0.06345	T	0.008	0.14655	B	0.006	0.12133	B	0.275278	0.03797	N	1.521790	1	0.08975	N	0	0.06538	N	2.17	0.19020	T	0.96	0.01488	N	0.037	0.02088	-0.9743	0.36279	T	0.007	0.02439	T	10	0.010022849	0.00224	T	0.004328	0.10529	T	0.004	0.00165	.	.	0.0954503805726	0.09146	0.24531679479833876	0.24445	0.0130503605161	0.01258	0.184004545212	0.00136	T	0.001181	0.00684	T	-0.673038	0.00053	T	-0.764176	0.02965	T	0.0213303844410878	0.00836	T	0.593441	0.21910	T	0.030603055	0.02753	0.042142857	0.04952	0.030603055	0.02752	0.042142857	0.04952	-3.436	0.15545	T	.	.	0.060	0.01059	B	.;.	.;.	-0.172904	0.03232	0.542	0.1578155347675802	0.00399	0.07882	0.13872	N	AEFGI	0.097977	0.19752	N	-1.34861677831507	0.03140	0.1397558	-1.34609895015877	0.03852	0.1805303	6.25440013286115E-5	0.04366	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.530356	0.10902	0	.	.	4.94	-1.21	0.09033	-0.067000	0.11538	0.761000	0.21315	-0.244000	0.07312	0.000000	0.06391	0.001000	0.17328	0.034000	0.13613	0.2507:0.3321:0.2552:0.162	0.977	0.01338	422	0.81333	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1217.98	33	chr6	75950798	.	G	T	1217.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.272e+00;DP=826;ExcessHet=0.0000;FS=1.507;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=0.399;SOR=0.531	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1271	20	0	1	0
chr6	79487294	79487294	C	T	exonic	LCA5	.	nonsynonymous SNV	LCA5:NM_001122769:exon8:c.G1804A:p.A602T	Leber congenital amaurosis 5	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.42	B	0.142	B	0.009	N	0.801	N	1.78	L	1.45	T	-1.089	T	0.032	T	0.151	1.530	11.07	3.06	2.594	1.771	6.393	0.042	0.00876262375145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	0.15458	T	0.214	0.26386	T	0.42	0.35330	B	0.142	0.33681	B	0.008987	0.30568	N	0.302761	0.800913	0.29116	N	1.905	0.50856	L	1.45	0.32482	T	-0.71	0.20145	N	0.11	0.09631	-1.0895	0.05616	T	0.032	0.13592	T	10	0.07960212	0.12823	T	0.008763	0.23123	T	0.042	0.11227	0.302	0.27003	0.557090038421	0.55369	0.14585859686984937	0.14507	0.0729793403314	0.08176	0.343767911196	0.17000	T	0.08335	0.37035	T	-0.203965	0.20235	T	-0.530758	0.19210	T	0.516338050365448	0.33230	D	0.687031	0.29593	T	0.07728025	0.17530	0.05560244	0.09783	0.07728025	0.17530	0.05560244	0.09782	-2.69	0.07219	T	0.4612360741487166	0.54341	0.129	0.27583	B	.;.	.;.	2.998620	0.40058	21.1	0.93816275829678986	0.23794	0.73489	0.35947	D	AEFBI	0.191982	0.31916	N	0.104287137318852	0.46662	2.903201	0.196178623831447	0.49637	3.164528	9.742792297922E-4	0.08079	0.638212	0.43195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.55	3.06	0.34374	1.785000	0.38315	1.752000	0.28483	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.3711:0.5363:0.0:0.0926	6.393	0.20798	569	0.70546	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1776.98	41	chr6	79487294	.	C	T	1776.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=939;ExcessHet=0.0000;FS=5.351;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.67;ReadPosRankSum=0.405;SOR=1.021	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,117,1755	20	0	1	0
chr6	79513448	79513448	A	G	exonic	LCA5	.	nonsynonymous SNV	LCA5:NM_001122769:exon3:c.T484C:p.F162L	Leber congenital amaurosis 5	.	.	.	.	.	.	.	.	.	.	832570	not_provided|Leber_congenital_amaurosis	MedGen:C3661900|MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.56	T	0.0	B	0.0	B	0.563	N	1.000	N	0	N	-0.96	T	-1.032	T	0.051	T	0.027	0.154	4.828	-2.1	-0.398	-0.364	2.907	0.109	0.0105115952519	.	0.000199681	0.0002	0	0	0	0	0	0	0.0012	0.0001294	20	154602	rs533963525	4.584e-05	4.583e-05	3.131e-05	6.051e-05	0.0007	3.662e-05	3.347e-05	0.0005	0.0005	0	0	0	0	0	0.0002	0	0.0001	0.0007	2.628e-05	2.625e-05	1.285e-05	4.031e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.685	0.04366	T	0.528	0.10173	T	0.0	0.02946	B	0.0	0.01387	B	0.562949	0.11317	N	0.813816	1	0.08975	N	-0.895	0.01383	N	-0.96	0.75553	T	0.79	0.01893	N	0.05	0.03502	-1.0318	0.19873	T	0.051	0.21533	T	10	0.005514145	0.00122	T	0.010512	0.27131	T	0.109	0.30843	0.16	0.06396	0.210429274316	0.20668	0.0340049255685227	0.03348	0.0212929991786	0.02108	0.269859582186	0.06122	T	0.062539	0.31943	T	-0.552558	0.00282	T	-0.631242	0.10320	T	0.00388100631240873	0.00041	T	0.538146	0.18903	T	0.039397992	0.05430	0.037144493	0.03306	0.039397992	0.05430	0.037144493	0.03305	-4.932	0.36093	T	0.06161294187580992	0.01771	0.185	0.39999	B	.;.;.	.;.;.	0.933425	0.13089	9.590	0.67877824844947388	0.08487	0.03785	0.09107	N	AEFDBI	0.038681	0.05509	N	-1.3575404219276	0.03048	0.1355231	-1.26980255411904	0.04844	0.2294945	0.865348428260716	0.25307	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	6.07	-2.1	0.06809	-0.545000	0.06159	-1.181000	0.06096	-0.743000	0.03651	0.002000	0.15269	0.000000	0.08366	0.964000	0.52637	0.285:0.2119:0.3761:0.127	2.907	0.05374	553	0.71930	Lebercilin domain;Lebercilin domain;Lebercilin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	2405.98	34	chr6	79513448	.	A	G	2405.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.51;DP=900;ExcessHet=0.0000;FS=1.139;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=1.72;SOR=0.819	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1363	20	0	1	0
chr6	80007990	80007990	G	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.G321C:p.E107D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	0.939	D	1.955	M	-2.54	D	0.480	D	0.698	D	0.589	3.817	19.38	2.91	0.879	1.891	11.092	0.607	0.126467273608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.893e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.035	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.938546	0.37229	D	2.62	0.76659	M	-2.54	0.89496	D	-1.53	0.56787	N	0.406	0.46649	0.480	0.90261	D	0.698	0.89595	D	10	0.39968592	0.55478	T	0.126467	0.80813	D	0.607	0.84559	0.377	0.39156	0.756102065754	0.75388	0.29326060996924297	0.29239	0.586303879314	0.54233	0.593461692333	0.51983	T	0.093775	0.51827	T	0.153432	0.69590	D	-0.0173821	0.69202	D	0.93341064453125	0.60015	D	0.887811	0.64303	D	0.7694828	0.82017	0.34171048	0.59907	0.7694828	0.82018	0.34171048	0.59906	-9.025	0.67858	D	.	.	0.446	0.62023	A	.;.;.;.;.;.	.;.;.;.;.;.	4.273798	0.65043	24.8	0.99838627551170323	0.91972	0.91788	0.54264	D	AEFBI	0.340775	0.43748	N	0.324956302953043	0.57431	3.910505	0.282171109977361	0.54497	3.614648	0.999919670358034	0.45857	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	2.91	0.32903	2.081000	0.41220	5.042000	0.46920	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2117:0.0:0.7883:0.0	11.092	0.47344	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4643	8626.22	29	chr6	80007990	.	G	C,A	8626.22	.	AC=9,4;AF=0.321,0.143;AN=28;BaseQRankSum=-1.515e+00;DP=1035;ExcessHet=11.8493;FS=213.695;InbreedingCoeff=-0.6471;MLEAC=11,5;MLEAF=0.393,0.179;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=0.474;SOR=11.340	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,13,7:58:99:.:.:1120,0,1340,165,1290,1580	1	0	9	7
chr6	80007992	80007997	GTTTTG	-	exonic	TTK	.	nonframeshift deletion	TTK:NM_001166691:exon3:c.323_328del:p.S108_A110delinsT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	8059.53	71	chr6	80007991	.	AGTTTTG	A,AG,ATG	8059.53	.	AC=5,5,3;AF=0.119,0.119,0.071;AN=42;BaseQRankSum=-1.812e+00;DP=1299;ExcessHet=11.8493;FS=210.889;InbreedingCoeff=-0.4483;MLEAC=5,5,3;MLEAF=0.119,0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.164;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:38,6,7,6:57:99:.:.:955,154,1625,0,1325,1415,154,1258,1274,1505	8	0	5	0
chr6	80007993	80007997	TTTTG	-	exonic	TTK	.	stopgain	TTK:NM_001166691:exon3:c.324_328del:p.F109*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	8059.53	71	chr6	80007991	.	AGTTTTG	A,AG,ATG	8059.53	.	AC=5,5,3;AF=0.119,0.119,0.071;AN=42;BaseQRankSum=-1.812e+00;DP=1299;ExcessHet=11.8493;FS=210.889;InbreedingCoeff=-0.4483;MLEAC=5,5,3;MLEAF=0.119,0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.164;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:38,6,7,6:57:99:.:.:955,154,1625,0,1325,1415,154,1258,1274,1505	8	0	5	0
chr6	80007992	80007992	G	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	140.96	42	chr6	80007992	.	G	*,C	140.96	.	AC=13,2;AF=0.382,0.059;AN=34;BaseQRankSum=1.16;DP=1027;ExcessHet=26.1958;FS=251.456;InbreedingCoeff=-0.6204;MLEAC=15,2;MLEAF=0.441,0.059;MQ=60.00;MQRankSum=0.00;QD=0.19;ReadPosRankSum=0.578;SOR=11.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,7,0:57:99:.:.:955,0,1415,726,1495,2183	2	0	13	4
chr6	80007993	80007993	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	144.91	42	chr6	80007993	.	T	*,C	144.91	.	AC=10,2;AF=0.385,0.077;AN=26;BaseQRankSum=0.236;DP=945;ExcessHet=22.5857;FS=237.638;InbreedingCoeff=-0.4416;MLEAC=14,3;MLEAF=0.538,0.115;MQ=60.00;MQRankSum=0.00;QD=0.25;ReadPosRankSum=0.301;SOR=10.970	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,7,0:57:99:.:.:955,0,1415,726,1495,2183	1	0	10	8
chr6	80007995	80007995	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	929.62	41	chr6	80007995	.	T	*,TCCCC,C	929.62	.	AC=7,3,2;AF=0.269,0.115,0.077;AN=26;BaseQRankSum=0.258;DP=915;ExcessHet=22.5857;FS=220.196;InbreedingCoeff=-0.4652;MLEAC=10,4,3;MLEAF=0.385,0.154,0.115;MQ=60.00;MQRankSum=0.00;QD=1.58;ReadPosRankSum=0.586;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:35,17,6,0:58:99:.:.:1035,0,1343,291,1221,1570,935,1403,1656,2279	1	0	7	8
chr6	80007995	80007995	-	CCCC	exonic	TTK	.	frameshift insertion	TTK:NM_001166691:exon3:c.326_327insCCCC:p.A110Pfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	929.62	41	chr6	80007995	.	T	*,TCCCC,C	929.62	.	AC=7,3,2;AF=0.269,0.115,0.077;AN=26;BaseQRankSum=0.258;DP=915;ExcessHet=22.5857;FS=220.196;InbreedingCoeff=-0.4652;MLEAC=10,4,3;MLEAF=0.385,0.154,0.115;MQ=60.00;MQRankSum=0.00;QD=1.58;ReadPosRankSum=0.586;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:35,17,6,0:58:99:.:.:1035,0,1343,291,1221,1570,935,1403,1656,2279	1	0	7	8
chr6	80007995	80007995	T	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.T326C:p.F109S	.	.	.	.	.	.	.	.	.	.	.	3487353	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.996	D	0.818	P	0.000	D	0.844	D	1.61	L	1.42	T	0.418	D	0.623	D	0.661	4.331	22.8	5.66	2.285	5.664	9.438	0.543	0.192901871488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0028	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	0.0003	0	4.221e-05	2.681e-05	0	0.0004	0.0003	6.299e-05	5.109e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.996	0.68779	D	0.818	0.58969	P	0.000000	0.84330	D	0.049019	0.843728	0.35108	D	2.43	0.70455	M	-2.42	0.88611	D	-3.24	0.89093	D	0.479	0.51851	0.418	0.89363	D	0.623	0.86718	D	10	0.7754053	0.77418	D	0.192902	0.86272	D	0.543	0.80960	0.667	0.80502	0.865703120749	0.86440	0.5142532410060754	0.51348	0.734343058358	0.62892	0.673589468002	0.63349	T	0.307771	0.67989	T	0.230199	0.76739	D	0.0928881	0.76438	D	0.992899179458618	0.83501	D	0.849815	0.59928	T	0.9145535	0.92723	0.74627006	0.85002	0.9145535	0.92724	0.74627006	0.85003	-11.553	0.82796	D	.	.	0.975	0.91596	P	.;.;.;.;.;.	.;.;.;.;.;.	5.252684	0.88193	29.5	0.99857276268218276	0.93639	0.93449	0.58247	D	AEFBI	0.664675	0.63376	D	0.634234699625658	0.75350	6.29074	0.657051414914333	0.79135	7.019207	0.999999781221271	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	5.66	0.87293	5.426000	0.66214	5.025000	0.46778	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.247:0.0:0.0:0.753	9.438	0.37819	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4615	929.62	41	chr6	80007995	.	T	*,TCCCC,C	929.62	.	AC=7,3,2;AF=0.269,0.115,0.077;AN=26;BaseQRankSum=0.258;DP=915;ExcessHet=22.5857;FS=220.196;InbreedingCoeff=-0.4652;MLEAC=10,4,3;MLEAF=0.385,0.154,0.115;MQ=60.00;MQRankSum=0.00;QD=1.58;ReadPosRankSum=0.586;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:35,17,6,0:58:99:.:.:1035,0,1343,291,1221,1570,935,1403,1656,2279	1	0	7	8
chr6	80007996	80007996	-	CCCCC	exonic	TTK	.	frameshift insertion	TTK:NM_001166691:exon3:c.327_328insCCCCC:p.A110Pfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	1782.58	51	chr6	80007996	.	T	TCCCCC,*	1782.58	.	AC=4,3;AF=0.182,0.136;AN=22;BaseQRankSum=0.023;DP=924;ExcessHet=3.6146;FS=435.630;InbreedingCoeff=-0.2557;MLEAC=6,5;MLEAF=0.273,0.227;MQ=60.00;MQRankSum=0.00;QD=4.82;ReadPosRankSum=0.313;SOR=10.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:41,5,6:52:31:.:.:151,31,1547,0,1450,1735	4	0	4	10
chr6	80007996	80007996	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	1782.58	51	chr6	80007996	.	T	TCCCCC,*	1782.58	.	AC=4,3;AF=0.182,0.136;AN=22;BaseQRankSum=0.023;DP=924;ExcessHet=3.6146;FS=435.630;InbreedingCoeff=-0.2557;MLEAC=6,5;MLEAF=0.273,0.227;MQ=60.00;MQRankSum=0.00;QD=4.82;ReadPosRankSum=0.313;SOR=10.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:41,5,6:52:31:.:.:151,31,1547,0,1450,1735	4	0	4	10
chr6	80007997	80007997	-	CCCCCA	exonic	TTK	.	nonframeshift insertion	TTK:NM_001166691:exon3:c.328_329insCCCCCA:p.A110_R111insPT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	2870.52	47	chr6	80007997	.	G	GCCCCCA	2870.52	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-1.779e+00;DP=993;ExcessHet=2.5830;FS=136.989;InbreedingCoeff=-0.2354;MLEAC=8;MLEAF=0.211;MQ=60.00;MQRankSum=0.00;QD=7.74;ReadPosRankSum=0.519;SOR=9.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:50,6:56:27:.:.:0,27,1870	12	0	7	2
chr6	80014544	80014544	C	G	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon10:c.C1066G:p.L356V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.949	P	0.585	P	0.000	D	0.986	D	1.995	M	-0.34	T	-0.892	T	0.159	T	0.082	1.670	11.54	1.45	0.035	0.028	2.082	0.170	0.0316673559251	0.0027	0.00299521	0.0007	0.0075	0.0003	0	0	1.504e-05	0.0011	0	0.0006339	98	154602	rs61735783	0.0003	0.0003	0.0003	0.0002	0.0089	0.0002	0.0002	0.0080	0.0077	0.0089	0.0007	0	0	0	0.0005	4.513e-06	0.0006	2.376e-05	0.0028	0.0028	0.0029	0.0028	0.0092	0.0026	0.0025	0.0084	0.0081	0.0092	0	0.0032	0	0	0	0	1.471e-05	0.0009	0	0.0	0.91255	D	0.329	0.18617	T	0.791	0.44643	P	0.376	0.43735	B	0.000009	0.62929	D	0.066244	0.986277	0.40407	D	2.455	0.71248	M	-0.34	0.70480	T	-0.95	0.25332	N	0.072	0.04547	-0.8919	0.48767	T	0.159	0.49346	T	10	0.005755782	0.00128	T	0.031667	0.53693	D	0.170	0.43303	.	.	0.571207575158	0.56786	0.10345787094904708	0.10275	0.149381744314	0.16845	0.41642588377	0.27346	T	0.068207	0.33398	T	-0.459823	0.00986	T	-0.423885	0.30630	T	0.0791437923225428	0.09876	T	0.633437	0.24778	T	0.2455048	0.47509	0.14905643	0.35210	0.18136306	0.39302	0.1432443	0.34048	-3.743	0.19955	T	.	.	0.077	0.06295	B	.;.;.	.;.;.	0.847263	0.12193	8.739	0.99495940509810721	0.67744	0.12829	0.17504	N	AEFGBI	0.081473	0.16486	N	-0.244259316225325	0.31333	1.755862	-0.347358032594679	0.26591	1.469755	0.937995529011829	0.27323	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.29	1.45	0.21708	0.113000	0.15333	-0.692000	0.07835	0.549000	0.26987	0.060000	0.21767	0.000000	0.08366	0.858000	0.40661	0.1589:0.5089:0.154:0.1782	2.082	0.03416	822	0.40702	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	943.98	48	chr6	80014544	.	C	G	943.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.840e-01;DP=914;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.16;ReadPosRankSum=0.947;SOR=0.620	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	20	0	1	0
chr6	80026478	80026478	C	T	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon12:c.C1355T:p.T452I	.	.	.	.	.	.	.	.	.	.	.	3487350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.991	D	0.894	P	0.000	D	1.000	D	2.045	M	-0.41	T	-0.418	T	0.387	T	0.838	4.440	23.6	6.04	2.873	5.053	19.567	0.297	0.0438156645685	.	.	.	.	.	.	.	.	.	.	.	.	.	rs867273086	1.3e-05	1.3e-05	1.089e-05	1.513e-05	0.0019	8.31e-06	6.7e-06	0.0011	0.0008	2.988e-05	0	0	0	0	0.0019	5.396e-06	1.656e-05	0	6.567e-06	6.562e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.0	0.91255	D	0.011	0.64786	D	0.991	0.64070	D	0.894	0.63417	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.47	0.71715	M	-0.42	0.69536	T	-2.27	0.50666	N	0.59	0.64648	-0.4185	0.71440	T	0.387	0.74209	T	10	0.50309414	0.61662	D	0.043816	0.61176	D	0.297	0.61730	0.176	0.08257	0.828390268632	0.82676	0.5114555314155442	0.51067	0.622715469703	0.56523	0.557953000069	0.46979	T	0.141971	0.47731	T	0.274715	0.80858	D	0.156832	0.80611	D	0.986854434013367	0.77472	D	0.806719	0.45571	T	0.40764967	0.61259	0.4344065	0.66961	0.40764967	0.61259	0.4344065	0.66962	-7.269	0.56188	T	.	.	0.580	0.68044	P	.;.;.	.;.;.	4.622818	0.73422	26.0	0.99912670609830989	0.98167	0.97514	0.75245	D	AEFDGBI	0.498424	0.53253	N	0.735733998786067	0.81976	7.649444	0.752175416495251	0.86320	8.851313	0.999995089943935	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	6.04	6.04	0.98025	5.554000	0.66999	7.633000	0.62825	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.567	0.95394	837	0.37933	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3895.08	33	chr6	80026478	.	C	T	3895.08	.	AC=2;AF=0.048;AN=42;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.96;SOR=0.693	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	1	0	0
chr6	81752025	81752025	-	CCGCCGAAGTCGCCG	exonic	TENT5A	.	nonframeshift insertion	TENT5A:NM_017633:exon2:c.116_117insCGGCGACTTCGGCGG:p.G45_G46insDFGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	25831.7	45	chr6	81752010	.	ACCGCCGAAGTCGCCG	ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCG,A,ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	25831.7	.	AC=22,7,4;AF=0.524,0.167,0.095;AN=42;BaseQRankSum=0.050;DP=1691;ExcessHet=0.0020;FS=1.111;InbreedingCoeff=0.5758;MLEAC=22,7,4;MLEAF=0.524,0.167,0.095;MQ=59.99;MQRankSum=0.00;QD=28.92;ReadPosRankSum=-7.030e-01;SOR=0.456	GT:AD:DP:GQ:PL	1/1:0,40,0,0:40:99:1664,114,0,1670,120,1676,1670,120,1676,1676	3	8	1	0
chr6	81752025	81752025	-	CCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	exonic	TENT5A	.	nonframeshift insertion	TENT5A:NM_017633:exon2:c.116_117insCGGCGACTTCGGCGGCGGCGACTTCGGCGG:p.G45_G46insDFGGGDFGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	25831.7	45	chr6	81752010	.	ACCGCCGAAGTCGCCG	ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCG,A,ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	25831.7	.	AC=22,7,4;AF=0.524,0.167,0.095;AN=42;BaseQRankSum=0.050;DP=1691;ExcessHet=0.0020;FS=1.111;InbreedingCoeff=0.5758;MLEAC=22,7,4;MLEAF=0.524,0.167,0.095;MQ=59.99;MQRankSum=0.00;QD=28.92;ReadPosRankSum=-7.030e-01;SOR=0.456	GT:AD:DP:GQ:PL	1/1:0,40,0,0:40:99:1664,114,0,1670,120,1676,1670,120,1676,1676	3	8	1	0
chr6	82191202	82191202	T	C	exonic	IBTK	.	nonsynonymous SNV	IBTK:NM_001300906:exon25:c.A3401G:p.H1134R	.	.	.	.	.	.	.	.	.	.	.	2280704	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.53	T	0.997	D	0.945	D	0.007	N	0.995	D	2.045	M	1.82	T	-1.012	T	0.100	T	0.519	1.785	11.93	1.85	0.067	1.263	13.556	0.129	0.0177063413291	0.0005	.	0.0004	0.0004	0	0	0.0005	0.0006	0	0	0.0004269	66	154602	rs145495116	0.0007	0.0007	0.0007	0.0007	0.0008	0.0006	0.0006	0.0008	0.0008	0.0002	9.356e-05	0	0	0.0004	0	0.0008	0.0005	3.562e-05	0.0005	0.0005	0.0005	0.0005	0.0010	0.0004	0.0004	0.0008	0.0007	0.0001	0	0.0001	0	0	0.0003	0	0.0010	0.0005	0	0.469	0.91255	T	0.481	0.11864	T	0.814	0.62325	P	0.432	0.51631	B	0.006682	0.31864	N	0.364125	0.995182	0.42579	D	1.845	0.48678	L	1.82	0.33630	T	-1.59	0.39119	N	0.181	0.40465	-1.0119	0.26322	T	0.100	0.37137	T	10	0.064602554	0.08593	T	0.017706	0.39515	T	0.129	0.35316	.	.	0.563062461143	0.55969	0.14070642597505742	0.13993	0.309982219948	0.33310	0.471201598644	0.34846	T	0.24793	0.61765	T	-0.332564	0.05920	T	-0.300923	0.44628	T	0.0333429385477442	0.02528	T	.	.	.	0.093127914	0.21865	0.069675274	0.14711	0.093127914	0.21865	0.069675274	0.14710	-4.478	0.30600	T	.	.	0.070	0.20235	B	.;.;.;.	.;.;.;.	1.735991	0.22091	15.48	0.95733791851506378	0.27679	0.95227	0.63909	D	AEFBI	0.247177	0.36780	N	-0.0180374052591854	0.41041	2.447711	-0.0553236944312778	0.37260	2.179254	0.11892958946348	0.16834	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.75	1.85	0.24418	1.244000	0.32381	1.474000	0.26774	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.663000	0.33052	0.0:0.0:0.3973:0.6027	13.556	0.61223	873	0.30802	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	562.98	46	chr6	82191202	.	T	C	562.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.340e-01;DP=785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=-1.095e+00;SOR=0.634	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1103	20	0	1	0
chr6	82216250	82216250	T	G	exonic	IBTK	.	nonsynonymous SNV	IBTK:NM_001300906:exon11:c.A1427C:p.E476A	.	.	463	1043	14	2	0	18	0.00855513	0.0164	0.122	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	0.554	P	0.123	B	0.059	N	0.786	D	0.805	L	1.89	T	-1.112	T	0.020	T	0.436	1.908	12.34	5.73	2.195	5.227	16.018	0.075	.	0.0008	0.000798722	0.0016	0.0003	0.0008	0	0	0.0015	0.0035	0.0048	0.0012742	197	154602	rs143498384	0.0010	0.0010	0.0008	0.0011	0.0084	0.0009	0.0009	0.0064	0.0058	0.0003	0.0011	0.0097	0	0	0.0084	0.0005	0.0017	0.0048	0.0008	0.0008	0.0007	0.0008	0.0037	0.0006	0.0006	0.0024	0.0020	7.222e-05	0	0.0012	0.0078	0	0	0.0034	0.0006	0.0033	0.0037	0.24	0.18498	T	0.386	0.15842	T	0.001	0.33029	B	0.002	0.32463	B	0.059488	0.22320	N	0.479141	0.786044	0.34327	D	1.175	0.29870	L	1.88	0.28002	T	-0.98	0.25986	N	0.348	0.38950	-1.1123	0.02879	T	0.020	0.08407	T	10	0.0040223897	0.00078	T	0.008438	0.22332	T	0.075	0.21907	.	.	0.369898441341	0.36605	0.36190664158538977	0.36104	0.168391200897	0.18989	0.409244835377	0.26353	T	0.129077	0.45714	T	-0.426166	0.01564	T	-0.384531	0.35191	T	0.0112945976716223	0.00167	T	.	.	.	0.12573859	0.29469	0.07477869	0.16393	0.12573859	0.29469	0.07477869	0.16393	-4.384	0.29339	T	.	.	0.149	0.32922	B	.;.;.;.	.;.;.;.	3.688612	0.52538	23.2	0.97447182380381214	0.34012	0.99186	0.92499	D	AEFBI	0.607743	0.59759	D	-0.112986528758554	0.36827	2.133994	0.0938707121093076	0.44239	2.709571	0.997823886642293	0.36074	0.732398	0.92422	0	0.743671	0.97443	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.73	5.73	0.89730	5.224000	0.65119	7.423000	0.58731	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.0:0.0:0.0:1.0	16.018	0.80257	867	0.32089	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	681.98	35	chr6	82216250	.	T	G	681.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.56;DP=726;ExcessHet=0.0000;FS=1.221;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.83;ReadPosRankSum=2.04;SOR=1.038	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1058	20	0	1	0
chr6	82217974	82217974	C	T	exonic	IBTK	.	nonsynonymous SNV	IBTK:NM_001300906:exon10:c.G1412A:p.S471N	.	.	445	1070	7	0	0	7	0.00326036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.001	B	0.001	B	0.056	N	0.999	N	-1.265	N	2.0	T	-0.916	T	0.006	T	0.081	-0.144	3.294	-0.781	-0.056	-0.936	7.045	0.043	0.0114311428952	0.0006	0.000599042	0.0005	0	0.0002	0	0	0.0007	0.0012	0.0005	0.0003946	61	154602	rs147304035	0.0006	0.0006	0.0005	0.0006	0.0046	0.0005	0.0005	0.0032	0.0028	0.0002	0.0006	0	0	1.893e-05	0.0046	0.0006	0.0010	0.0004	0.0006	0.0006	0.0005	0.0007	0.0011	0.0005	0.0004	0.0007	0.0006	0.0002	0	0.0011	0	0	0	0.0102	0.0007	0.0033	0.0006	0.676	0.05973	T	0.509	0.12107	T	0.0	0.02946	B	0.0	0.01387	B	0.055572	0.22632	N	0.534882	0.99947	0.21151	N	-0.805	0.01590	N	2.0	0.27331	T	-0.48	0.15379	N	0.112	0.18239	-0.9157	0.46129	T	0.006	0.01981	T	10	0.004614651	0.00096	T	0.011431	0.29047	T	0.043	0.11576	.	.	0.179529687257	0.17594	0.16220586137641543	0.16140	0.146048444311	0.16491	0.30689406395	0.11438	T	0.070371	0.33944	T	-0.641147	0.00082	T	-0.766545	0.02883	T	0.00448100680315643	0.00048	T	.	.	.	0.02049657	0.00610	0.035944056	0.02942	0.02049657	0.00610	0.035944056	0.02941	-4.174	0.26374	T	.	.	0.057	0.00730	B	.;.;.;.	.;.;.;.	0.834435	0.12059	8.614	0.46871761016382413	0.03788	0.07627	0.13635	N	AEFBHI	0.042010	0.06462	N	-1.2148429126736	0.04783	0.2166513	-1.04707363547837	0.08767	0.4327178	0.424375478619112	0.20317	0.706548	0.73137	0	0.653731	0.59785	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.53	-0.781	0.10412	-0.924000	0.04104	0.006000	0.13366	-0.187000	0.09635	0.000000	0.06391	0.867000	0.27550	0.991000	0.66497	0.1414:0.1688:0.0:0.6898	7.045	0.24221	867	0.32089	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1663.98	34	chr6	82217974	.	C	T	1663.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=839;ExcessHet=0.0000;FS=1.341;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=0.282;SOR=0.570	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1258	20	0	1	0
chr6	83191208	83191208	G	A	exonic	PGM3	.	stopgain	PGM3:NM_001199917:exon2:c.C61T:p.Q21X	Immunodeficiency 23, Autosomal recessive	YES	0	225	1	0	0	1	0.00221729	.	.	1060913	PGM3-related_disorder|not_provided|Immunodeficiency_23	.|MedGen:C3661900|MONDO:MONDO:0014353,MedGen:C4014371,OMIM:615816,Orphanet:443811	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	1.966	12.53	0.641	0.112	-0.103	5.926	.	.	.	.	8.881e-05	0	0	0	0	0.0003	0	0	1.29e-05	2	154602	rs753019951	2.604e-05	2.463e-05	3.427e-05	1.759e-05	0.0004	1.906e-05	1.692e-05	6.163e-05	2.548e-05	0	5.602e-05	0.0002	0	0	0.0004	2.412e-05	3.456e-05	0	2.632e-05	2.627e-05	2.572e-05	2.695e-05	6.551e-05	8.15e-06	5.15e-06	.	.	0	0	6.551e-05	0.0009	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.474	0.50958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.206119	0.19930	T	-0.338217	0.40546	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	0.134315	0.05294	1.788	0.98311393629684474	0.40144	0.07020	0.13047	N	AEFDGBCI	0.030805	0.03169	N	-0.0400992814840478	0.40046	2.371584	-0.445766089167176	0.23669	1.291985	0.999858373543403	0.44174	0.608746	0.35421	0	0.627608	0.54475	0	0.408882	0.06424	0	0.605231	0.38476	0	.	.	3.47	0.641	0.16930	-0.098000	0.10993	0.693000	0.20782	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3551:0.0:0.6449:0.0	5.926	0.18352	713	0.56348	.;.;.	.	.	.	.	.	Likely pathogenic	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	888.98	33	chr6	83191208	.	G	A	888.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.067;DP=805;ExcessHet=0.0000;FS=4.354;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.98;ReadPosRankSum=0.649;SOR=0.434	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr6	83228915	83228915	G	A	exonic	ME1	.	nonsynonymous SNV	ME1:NM_002395:exon10:c.C1043T:p.T348I,	.	.	.	.	.	.	.	.	.	.	.	3285281	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.18	T	0.958	D	0.747	P	0.000	D	1.000	D	3.32	M	0.9	T	-0.656	T	0.215	T	0.432	3.300	17.09	5.86	2.937	3.721	15.300	0.283	0.0129683978366	.	.	9.891e-05	0	0.0002	0	0	0.0001	0	0.0001	8.41e-05	13	154602	rs745631458	8.842e-05	8.961e-05	8.593e-05	9.093e-05	0.0005	7.57e-05	7.115e-05	0.0001	7.573e-05	0	6.794e-05	0	2.522e-05	0	0.0005	9.54e-05	0.0002	7.024e-05	0.0001	0.0001	0.0001	0.0001	0.0002	7.582e-05	6.286e-05	0.0001	0.0001	0	0	0.0001	0	0	0	0	0.0002	0	0	0.134	0.26300	T	0.159	0.31527	T	0.958	0.54977	D	0.747	0.55931	P	0.000000	0.84330	D	0.043732	0.99999	0.58761	D	2.965	0.85198	M	0.9	0.45248	T	-4.23	0.75935	D	0.592	0.61172	-0.6565	0.62430	T	0.215	0.57666	T	10	0.6976149	0.72243	D	0.012968	0.31999	T	0.283	0.60100	.	.	0.713146634696	0.71063	0.7165140702928132	0.71594	0.184859091672	0.20781	0.559781074524	0.47237	T	0.37301	0.73709	T	-0.242964	0.14973	T	-0.338468	0.40519	T	0.824118375778198	0.48080	D	0.844516	0.52185	T	0.7495402	0.80842	0.5546973	0.74245	0.7495402	0.80843	0.5546973	0.74246	-8.191	0.62365	D	.	.	0.338	0.55754	B	.	.	4.471845	0.69692	25.4	0.99741635533990725	0.83555	0.93495	0.58373	D	AEFBI	0.493906	0.52993	N	0.728813122416548	0.81521	7.541843	0.687625142498544	0.81438	7.526806	0.904438429987554	0.26178	0.706298	0.61202	0	0.633656	0.55848	0	0.566861	0.19136	0	0.613276	0.41899	0	.	.	5.86	5.86	0.93936	3.998000	0.56736	11.791000	0.96374	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.0:0.8601:0.1399	15.300	0.73648	740	0.53092	Malic enzyme, NAD-binding|Malic enzyme, NAD-binding	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	938.98	34	chr6	83228915	.	G	A	938.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.290e-01;DP=813;ExcessHet=0.0000;FS=1.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.74;ReadPosRankSum=0.693;SOR=0.919	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1360	20	0	1	0
chr6	83556226	83556226	G	T	exonic	SNAP91	.	nonsynonymous SNV	SNAP91:NM_001242794:exon19:c.C1730A:p.P577H	.	.	.	.	.	.	.	.	.	.	.	2778853	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	N	1.995	M	1.9	T	-1.002	T	0.117	T	0.524	4.155	21.5	5.54	2.611	7.155	19.089	0.218	0.024804702198	.	.	3.36e-05	0	0	0	0	7.057e-05	0	0	1.94e-05	3	154602	rs774229973	4.089e-05	4.925e-05	3.906e-05	4.277e-05	4.867e-05	3.208e-05	2.934e-05	3.796e-05	3.442e-05	0	2.616e-05	0	0	0	0	4.867e-05	6.812e-05	0	1.326e-05	1.316e-05	1.293e-05	1.36e-05	2.949e-05	2.2e-06	8.3e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.949e-05	0	0	0.0	0.91255	D	0.002	0.83351	D	0.999	0.90584	D	0.936	0.86255	D	0.000023	0.55875	D	0.119134	0.999933	0.51612	D	2.36	0.67893	M	1.78	0.26445	T	-2.21	0.49684	N	0.623	0.63798	-1.0024	0.29226	T	0.117	0.41165	T	10	0.4859947	0.60711	T	0.024805	0.47795	T	0.218	0.51265	.	.	0.340432005269	0.33650	0.2505951909950214	0.24973	0.607625513017	0.55570	0.744508087635	0.73636	T	0.028636	0.41409	T	-0.018208	0.49108	T	-0.263931	0.48430	T	0.449702351948695	0.30786	T	0.90041	0.75281	D	0.5151932	0.67982	0.55889183	0.74481	0.5151932	0.67983	0.55889183	0.74481	-10.155	0.74835	D	.	.	0.394	0.59251	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.415883	0.90635	31	0.9951425478880529	0.68799	0.96636	0.70140	D	AEFBI	0.926332	0.90727	D	0.812706337243854	0.86895	9.034294	0.804751948697162	0.90121	10.26571	0.900943010763535	0.26088	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.54	5.54	0.82907	8.602000	0.90650	11.833000	0.97585	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.089	0.93200	748	0.52143	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1329.98	47	chr6	83556226	.	G	T	1329.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.345;DP=837;ExcessHet=0.0000;FS=1.496;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=-1.335e+00;SOR=0.523	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1112	20	0	1	0
chr6	83665471	83665471	T	C	exonic	SNAP91	.	nonsynonymous SNV	SNAP91:NM_001376728:exon2:c.A67G:p.T23A	.	.	433	1086	2	1	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.513	P	0.299	B	0.000	D	1.000	D	1.99	M	1.41	T	-1.081	T	0.063	T	0.456	4.501	24.2	5.59	2.250	5.096	16.062	0.128	.	0.0047	0.00459265	0.0012	0.0139	0.0003	0	0	1.499e-05	0	0	0.0011513	178	154602	rs73486951	0.0004	0.0004	0.0005	0.0003	0.0147	0.0004	0.0004	0.0136	0.0132	0.0147	0.0006	0	0	0	0.0017	1.44e-05	0.0012	0	0.0042	0.0042	0.0043	0.0041	0.0142	0.0039	0.0038	0.0132	0.0129	0.0142	0	0.0024	0	0	0	0	2.943e-05	0.0038	0	0.084	0.50676	T	0.139	0.44702	T	0.513	0.37366	P	0.299	0.41006	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.82	0.47800	L	1.41	0.33412	T	-4.3	0.77225	D	0.547	0.57348	-1.0813	0.07099	T	0.063	0.26279	T	10	0.0110556185	0.00243	T	.	.	.	0.128	0.35103	.	.	0.488177308408	0.48449	0.5807877461369287	0.58007	0.891209446568	0.70242	0.696984529495	0.66709	T	0.09369	0.64076	T	-0.41813	0.01758	T	-0.361067	0.37928	T	0.0309358944289285	0.02135	T	0.938506	0.76886	D	0.45025027	0.64057	0.47673142	0.69682	0.45025027	0.64057	0.47673142	0.69683	-8.993	0.67652	D	.	.	0.136	0.44847	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	4.351738	0.66846	25.0	0.99817500337645459	0.90061	0.95808	0.66241	D	AEFBI	0.808121	0.73198	D	0.224296537290429	0.52378	3.412419	0.350923420042833	0.58562	4.027597	0.707181596139267	0.22774	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.59	5.59	0.84677	4.198000	0.58217	5.081000	0.47267	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.062	0.80653	501	0.75956	AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  domain;AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  domain;AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  domain;AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  domain;AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  domain;.;.;AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  domain;AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  domain;AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  domain;AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  domain;AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2347.98	33	chr6	83665471	.	T	C	2347.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.358;DP=948;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.77;ReadPosRankSum=-2.640e-01;SOR=0.691	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1308	20	0	1	0
chr6	83857327	83857327	A	G	exonic	RIPPLY2	.	nonsynonymous SNV	RIPPLY2:NM_001009994:exon4:c.A325G:p.I109V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.988	D	0.919	D	0.000	D	1.000	D	2.54	M	.	.	-0.260	T	0.346	T	0.543	3.777	19.18	5.64	2.367	6.331	12.536	0.257	0.00790860224697	.	.	1.656e-05	0	0	0	0	3.005e-05	0	0	1.29e-05	2	154602	rs541361470	1.117e-05	1.3e-05	6.946e-06	1.545e-05	2.669e-05	6.62e-06	5.35e-06	8.17e-06	6.48e-06	0	2.669e-05	0	0	0	0	1.361e-05	0	0	6.576e-06	6.567e-06	0	1.346e-05	1.473e-05	0	0	.	.	0	0	0	0	0	0	0	1.473e-05	0	0	0.006	0.61437	D	0.016	0.63918	D	0.988	0.62325	D	0.919	0.65474	D	0.000000	0.84330	D	0.000000	0.999985	0.54805	D	2.94	0.84723	M	.	.	.	-1.0	0.26422	N	0.742	0.74189	-0.2600	0.76088	T	0.346	0.71131	T	9	0.68849975	0.71709	D	0.007909	0.20981	T	0.257	0.56827	0.612	0.74535	0.8105381289	0.80876	0.242721009886143	0.24186	0.429143306096	0.43209	0.496223032475	0.38302	T	0.442808	0.78683	T	-0.00732948	0.50639	T	-0.135814	0.60480	T	0.810879528522491	0.47110	D	0.872413	0.74555	D	0.7209831	0.79216	0.7115016	0.82980	0.7209831	0.79217	0.7115016	0.82981	-7.719	0.59140	D	.	.	0.475	0.63414	A	.;.	.;.	4.339354	0.66557	25.0	0.99902928659249812	0.97426	0.99354	0.94924	D	AEFBI	0.794533	0.72221	D	0.792166294230004	0.85613	8.628618	0.769441629501669	0.87601	9.278784	0.999999224634786	0.74766	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.530356	0.10902	0	.	.	5.64	5.64	0.86480	6.345000	0.72945	10.885000	0.84068	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8613:0.1387:0.0:0.0	12.536	0.55491	168	0.93464	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	728.98	35	chr6	83857327	.	A	G	728.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.740e-01;DP=771;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.12;ReadPosRankSum=2.77;SOR=0.696	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1169	20	0	1	0
chr6	83914422	83914422	G	A	exonic	CYB5R4	.	nonsynonymous SNV	CYB5R4:NM_016230:exon5:c.G419A:p.R140H,	.	.	503	1014	5	0	0	5	0.00245942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.265	B	0.005	B	0.000	N	1.000	D	-0.345	N	-1.91	D	-1.016	T	0.146	T	0.069	2.694	14.97	-2.48	-0.470	-1.222	8.147	0.276	.	0.0008	0.00339457	0.0028	0.0019	0	0	0	8.307e-05	0	0.0168	0.0018887	292	154602	rs61762820	0.0009	0.0010	0.0005	0.0013	0.0138	0.0009	0.0008	0.0131	0.0129	0.0018	5.57e-05	0	5.323e-05	0	0.0010	1.893e-05	0.0010	0.0138	0.0011	0.0011	0.0007	0.0015	0.0207	0.0010	0.0009	0.0174	0.0162	0.0015	0	0.0003	0	0	0	0	2.941e-05	0.0005	0.0207	0.323	0.13436	T	0.14	0.33554	T	0.265	0.31634	B	0.005	0.11217	B	0.000002	0.00162	N	6.149880	0.999791	0.49177	D	0	0.06538	N	-1.91	0.84701	D	-0.14	0.09135	N	0.086	0.06322	-1.0161	0.24980	T	0.146	0.47111	T	10	0.0033977926	0.00059	T	.	.	.	0.276	0.59253	.	.	0.708209581343	0.70566	0.4550232643724913	0.45420	0.174264859333	0.19618	0.189428523183	0.00215	T	0.049098	0.28208	T	-0.496906	0.00595	T	-0.474871	0.24994	T	0.0188765307124877	0.00598	T	0.725927	0.34027	T	0.021177659	0.00708	0.029777529	0.01353	0.021177659	0.00707	0.029777529	0.01353	-5.256	0.39506	T	.	.	0.069	0.03026	B	.	.	0.113709	0.05128	1.653	0.96798100217452898	0.31139	0.00605	0.02694	N	AEFI	0.031564	0.03403	N	-0.949008022959573	0.09715	0.4610085	-0.932429034200123	0.11332	0.5766299	0.00357751753351346	0.10184	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	3.68	-2.48	0.06052	-1.242000	0.03018	-2.255000	0.03991	0.672000	0.70159	0.001000	0.13787	0.000000	0.08366	0.924000	0.46004	0.664:0.0:0.336:0.0	8.147	0.30276	523	0.74147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1752.98	35	chr6	83914422	.	G	A	1752.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=859;ExcessHet=0.0000;FS=8.107;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.50;ReadPosRankSum=-1.876e+00;SOR=1.256	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1141	20	0	1	0
chr6	83936364	83936364	C	T	exonic	CYB5R4	.	nonsynonymous SNV	CYB5R4:NM_016230:exon12:c.C1096T:p.R366C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.01	B	0.022	B	0.373	N	1.000	D	0.505	N	-3.31	D	-0.271	T	0.447	T	0.134	1.614	11.35	3.88	2.349	1.755	5.390	0.316	0.0603065805473	.	.	1.667e-05	0	0	0	0	1.516e-05	0	6.114e-05	1.29e-05	2	154602	rs146405277	1.165e-05	1.368e-05	9.551e-06	1.378e-05	0.0002	7.1e-06	5.8e-06	5.31e-06	3.88e-06	3.011e-05	0	0	0	0	0.0002	9.901e-06	3.32e-05	2.329e-05	6.576e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.072	0.34982	T	0.068	0.44106	T	0.01	0.15535	B	0.022	0.19653	B	0.373067	0.13498	N	0.725772	0.994584	0.42337	D	0	0.06538	N	-3.31	0.93835	D	-1.4	0.34596	N	0.248	0.28028	-0.2705	0.75798	T	0.447	0.78270	T	10	0.29228836	0.46806	T	0.060307	0.67956	D	0.316	0.63799	0.518	0.61915	0.963620442367	0.96322	0.464497102615662	0.46368	0.193709413675	0.21702	0.200634777546	0.00475	T	0.325747	0.69643	T	-0.129544	0.31570	T	-0.241711	0.50632	T	0.277696043252945	0.24074	T	0.756024	0.37907	T	0.104960606	0.24816	0.094212994	0.22289	0.104960606	0.24816	0.094212994	0.22288	-7.581	0.58178	D	.	.	0.066	0.02200	B	.	.	3.729353	0.53338	23.4	0.98014547218812798	0.37582	0.65751	0.32843	D	AEFBI	0.117940	0.23083	N	-0.208455853073324	0.32787	1.852949	-0.0271120035224936	0.38494	2.268756	0.011050350477546	0.12122	0.732398	0.92422	0	0.743671	0.97443	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	4.77	3.88	0.43959	1.600000	0.36372	3.278000	0.37209	0.549000	0.26987	0.993000	0.37899	0.998000	0.33993	0.988000	0.63387	0.1452:0.6299:0.1414:0.0835	5.390	0.15538	481	0.77356	Flavoprotein pyridine nucleotide cytochrome reductase-like, FAD-binding domain|FAD-binding domain, ferredoxin reductase-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1070.98	33	chr6	83936364	.	C	T	1070.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.842;DP=786;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=1.19;SOR=0.762	GT:AD:DP:GQ:PL	0/1:49,46:95:99:1085,0,1095	20	0	1	0
chr6	84125104	84125104	G	A	exonic	CEP162	.	nonsynonymous SNV	CEP162:NM_001286206:exon27:c.C3950T:p.A1317V	.	.	438	1063	20	1	0	22	0.0102421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.873	P	0.544	P	0.000	D	1.000	N	1.95	M	2.19	T	-1.038	T	0.037	T	0.409	3.546	18.09	5.55	2.753	4.258	13.494	0.112	.	0.0002	0.00239617	0.0014	0	0.0002	0	0	0.0004	0	0.0084	0.0011837	183	154602	rs139232508	0.0007	0.0007	0.0004	0.0010	0.0091	0.0007	0.0007	0.0085	0.0083	8.978e-05	0.0002	0	5.042e-05	0	0.0073	0.0001	0.0008	0.0091	0.0004	0.0004	0.0002	0.0006	0.0094	0.0003	0.0003	0.0072	0.0064	9.633e-05	0	6.546e-05	0	0	0	0.0034	0.0002	0	0.0094	0.288	0.15984	T	0.324	0.21277	T	0.873	0.47975	P	0.544	0.49014	P	0.000182	0.48115	D	0.137278	1	0.08975	N	1.79	0.46772	L	2.19	0.18724	T	-0.73	0.22078	N	0.281	0.31814	-1.0383	0.17832	T	0.037	0.15856	T	10	0.0049034655	0.00105	T	.	.	.	0.112	0.31546	.	.	0.329540904979	0.32555	0.24963868248326895	0.24877	0.0871914898543	0.09831	0.403054893017	0.25494	T	0.02052	0.16142	T	-0.472851	0.00816	T	-0.447008	0.28028	T	0.0664122586300544	0.08138	T	0.677432	0.28627	T	0.06477105	0.13777	0.099049	0.23636	0.06477105	0.13777	0.099049	0.23635	-3.67	0.18876	T	.	.	0.117	0.23848	B	.;.;.	.;.;.	2.661118	0.34671	19.69	0.99766924631953646	0.85583	0.92167	0.55094	D	AEFBI	0.326000	0.42741	N	0.179476354235288	0.50214	3.213605	0.132889784414697	0.46240	2.873365	0.00925369653215098	0.11823	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.55	5.55	0.83298	4.742000	0.61798	8.528000	0.77447	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.009000	0.08673	0.0:0.0:0.8441:0.1559	13.494	0.60868	563	0.71062	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1095.98	33	chr6	84125104	.	G	A	1095.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=767;ExcessHet=0.0000;FS=3.290;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.81;ReadPosRankSum=-2.400e-01;SOR=1.203	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr6	84152708	84152708	T	G	exonic	CEP162	.	nonsynonymous SNV	CEP162:NM_001286206:exon23:c.A3238C:p.S1080R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.113	B	0.037	B	0.805	N	1.000	N	0.895	L	2.13	T	-0.945	T	0.014	T	0.133	-0.422	2.033	-1.56	-0.082	0.580	12.033	0.026	0.00728508070162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	2.052e-06	1.362e-06	2.752e-06	0.0003	5.5e-07	1.5e-07	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.14595	T	0.487	0.11656	T	0.113	0.26349	B	0.037	0.23121	B	0.804541	0.06789	N	1.087340	1	0.08975	N	1.355	0.33814	L	2.13	0.19588	T	-1.23	0.33598	N	0.193	0.25989	-0.9449	0.41830	T	0.014	0.05753	T	10	0.1229122	0.23325	T	0.007285	0.19307	T	0.026	0.05648	0.158	0.06178	0.0482279557977	0.04254	0.14281800754448878	0.14204	0.0226536047655	0.02288	0.247102752328	0.03469	T	0.020535	0.16154	T	-0.296381	0.09006	T	-0.663507	0.08032	T	0.0676487684249878	0.08318	T	0.737326	0.35372	T	0.09207325	0.21592	0.0910751	0.21393	0.09207325	0.21591	0.0910751	0.21393	-4.238	0.27298	T	.	.	0.174	0.38172	B	.;.;.	.;.;.	1.226115	0.16205	12.39	0.77327836076152723	0.11830	0.21369	0.21377	N	AEFBI	0.125263	0.24169	N	-0.953952551814535	0.09604	0.4552653	-0.987017548675938	0.10076	0.5052437	1.15749270027658E-5	0.02871	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.6	-1.56	0.08080	0.598000	0.23774	0.678000	0.20656	0.663000	0.56723	0.216000	0.24491	0.000000	0.08366	0.025000	0.12405	0.0:0.6022:0.0:0.3978	12.033	0.52701	562	0.71143	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1440.98	33	chr6	84152708	.	T	G	1440.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.809e+00;DP=775;ExcessHet=0.0000;FS=1.604;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=0.669;SOR=0.921	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1153	20	0	1	0
chr6	84171654	84171654	C	T	exonic	CEP162	.	nonsynonymous SNV	CEP162:NM_001286206:exon17:c.G2003A:p.R668Q	.	.	586	928	7	1	0	9	0.00482574	.	.	2820517	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.54	T	0.055	B	0.008	B	0.738	N	1.000	N	0.97	L	1.49	T	-0.948	T	0.016	T	0.046	1.093	9.461	0.592	0.091	-1.177	5.636	0.017	.	0.0023	0.00199681	0.0066	0.0007	0.0029	0	0.0279	0.0061	0.0104	0.0091	0.002956	457	154602	rs142624944	0.0032	0.0033	0.0031	0.0033	0.0070	0.0031	0.0031	0.0057	0.0056	0.0004	0.0009	0.0010	0	0.0152	0.0070	0.0028	0.0030	0.0062	0.0035	0.0035	0.0032	0.0038	0.0044	0.0033	0.0032	0.0038	0.0036	0.0004	0.0121	0.0008	0.0009	0	0.0167	0.0137	0.0042	0.0024	0.0044	0.395	0.10659	T	0.657	0.06576	T	0.055	0.22733	B	0.008	0.13708	B	0.738434	0.09796	N	0.878115	1	0.08975	N	1.485	0.37223	L	1.49	0.31470	T	-0.7	0.19933	N	0.111	0.09914	-0.9481	0.41296	T	0.016	0.06616	T	10	0.002163887	0.00031	T	.	.	.	0.017	0.02790	.	.	0.0611884634855	0.05136	0.12478103710927478	0.12404	0.0184041785563	0.01797	0.230163395405	0.01980	T	0.007522	0.06921	T	-0.681509	0.00047	T	-0.747011	0.03604	T	0.0170301523191542	0.00451	T	0.675632	0.28413	T	0.035422776	0.04166	0.028137911	0.01023	0.035422776	0.04165	0.028137911	0.01022	-5.384	0.40765	T	.	.	0.077	0.06525	B	.;.;.	.;.;.	1.238415	0.16341	12.48	0.93773666028667269	0.23728	0.02449	0.06892	N	AEFBI	0.037134	0.05058	N	-0.91964373721161	0.10383	0.4959058	-0.826278423357771	0.13859	0.7212081	9.41714521446526E-6	0.01202	0.651	0.46895	0	0.601575	0.49859	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.43	0.592	0.16654	-1.134000	0.03340	-0.802000	0.07370	-0.230000	0.07744	0.000000	0.06391	0.000000	0.08366	0.981000	0.58702	0.1262:0.4481:0.0:0.4257	5.636	0.16811	582	0.69555	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2041.11	34	chr6	84171654	.	C	T	2041.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-8.400e-02;DP=830;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=0.502;SOR=0.695	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1099	19	0	2	0
chr6	87258148	87258148	G	A	exonic	ZNF292	.	nonsynonymous SNV	ZNF292:NM_015021:exon8:c.G4519A:p.E1507K	.	.	434	1080	8	0	0	8	0.00369004	.	.	2840590	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.256	B	0.035	B	0.033	N	1.000	D	0.695	N	3.17	T	-0.910	T	0.010	T	0.572	1.207	9.901	5.87	2.779	3.124	18.384	0.157	0.00813865308642	.	.	9.811e-05	0	0	0.0001	0.0003	4.802e-05	0	0.0003	7.76e-05	12	154602	rs750773292	3.837e-05	3.967e-05	3.135e-05	4.547e-05	0.0003	3.03e-05	2.723e-05	0.0002	0.0002	2.99e-05	0	0	2.522e-05	3.76e-05	0.0003	1.8e-05	9.951e-05	0.0003	3.944e-05	3.94e-05	2.57e-05	5.384e-05	0.0002	1.716e-05	1.13e-05	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	9.434e-05	0	2.941e-05	0.0005	0.0002	0.008	0.58626	D	0.163	0.31629	T	0.256	0.31372	B	0.035	0.22741	B	0.033222	0.24925	N	0.420327	0.99621	0.43079	D	1.555	0.39373	L	3.16	0.07711	T	-0.75	0.21003	N	0.304	0.56058	-0.9102	0.46830	T	0.010	0.03492	T	10	0.11816445	0.22334	T	0.008139	0.21572	T	0.157	0.40909	0.322	0.30226	0.225033846419	0.22103	0.5235445028743316	0.52278	.	.	0.565315485001	0.48017	T	0.048916	0.28156	T	-0.313934	0.07406	T	-0.392529	0.34256	T	0.0709588371123201	0.08785	T	0.847215	0.52823	T	0.19881433	0.41797	0.11974239	0.28901	0.19881433	0.41797	0.11974239	0.28901	-3.357	0.14484	T	0.2086003190621847	0.27906	0.125	0.26419	B	.;.	.;.	3.119102	0.42106	21.5	0.99085217216601751	0.52075	0.90465	0.51663	D	AEFGBHCI	0.265740	0.38280	N	-0.104492555548378	0.37196	2.160639	0.0420180583032019	0.41687	2.508734	0.999999980231481	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.87	5.87	0.94266	3.205000	0.50792	11.920000	0.99804	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.452000	0.27939	0.0:0.0:1.0:0.0	18.384	0.90403	824	0.40336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	3046.98	34	chr6	87258148	.	G	A	3046.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.95;DP=1933;ExcessHet=0.0000;FS=1.774;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.55;ReadPosRankSum=0.699;SOR=0.866	GT:AD:DP:GQ:PL	0/0:88,0:88:99:0,120,1800	20	0	1	0
chr6	87259603	87259603	T	C	exonic	ZNF292	.	nonsynonymous SNV	ZNF292:NM_015021:exon8:c.T5974C:p.S1992P	.	.	441	1075	6	0	0	6	0.00278293	.	.	2353301	not_provided|Inborn_genetic_diseases|ZNF292-related_disorder	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.0	B	0.0	B	0.030	N	1.000	N	1.59	L	3.17	T	-0.982	T	0.008	T	0.197	0.358	5.943	3.41	0.448	1.652	6.187	0.018	0.00423419327487	0.0006	0.000399361	0.0010	0.0003	0.0007	0	0	0.0017	0.0028	0.0006	0.0006727	104	154602	rs200457425	0.0008	0.0008	0.0007	0.0008	0.0030	0.0007	0.0007	0.0019	0.0016	0.0002	0.0005	0.0003	2.619e-05	5.841e-05	0.0030	0.0008	0.0007	0.0008	0.0006	0.0006	0.0006	0.0007	0.0017	0.0005	0.0005	0.0012	0.0010	0.0001	0	0.0017	0.0003	0.0002	0	0.0102	0.0008	0	0.0008	0.119	0.28026	T	0.383	0.15842	T	0.0	0.02946	B	0.0	0.01387	B	0.029825	0.25397	N	0.453783	0.562	0.31252	N	1.11	0.28643	L	3.16	0.07711	T	-0.92	0.24676	N	0.259	0.29313	-0.9824	0.34445	T	0.008	0.02842	T	10	0.011310637	0.00248	T	0.004234	0.10216	T	0.018	0.03083	.	.	0.082315109003	0.07666	0.39461395011850386	0.39376	.	.	0.54963850975	0.45807	T	0.070292	0.33924	T	-0.544129	0.00316	T	-0.594914	0.13242	T	0.00605675292165428	0.00067	T	0.70163	0.31127	T	0.13809104	0.31950	0.17837611	0.40502	0.13809104	0.31950	0.17837611	0.40501	-4.094	0.25201	T	0.12861787096259045	0.13341	0.086	0.10739	B	.;.	.;.	2.166663	0.27606	17.52	0.92947864279519066	0.22519	0.66355	0.33049	D	AEFBCI	0.335555	0.43396	N	-0.231013196190268	0.31868	1.79127	-0.0854678571923201	0.35990	2.088881	0.249082450327898	0.18660	0.722319	0.85440	0	0.698795	0.70079	0	0.696353	0.63694	0	0.683762	0.67416	0	.	.	5.87	3.41	0.38145	0.741000	0.25870	1.882000	0.29459	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.1203:0.1317:0.0:0.748	6.187	0.19718	824	0.40336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1023.98	34	chr6	87259603	.	T	C	1023.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.418;DP=1367;ExcessHet=0.0000;FS=1.843;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.80;ReadPosRankSum=1.93;SOR=0.755	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	20	0	1	0
chr6	87284875	87284879	ACTCC	-	exonic	GJB7	.	frameshift deletion	GJB7:NM_198568:exon3:c.34_38del:p.G12Kfs*2,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0077	0.00858626	0.0021	0.0229	0.0011	0.0001	0	1.51e-05	0	0	0.0003458	9	26028	rs148385063	0.0007	0.0007	0.0008	0.0006	0.0240	0.0007	0.0006	0.0226	0.0221	0.0240	0.0013	0	2.519e-05	0	0.0009	4.227e-05	0.0016	4.637e-05	0.0069	0.0069	0.0069	0.0068	0.0239	0.0065	0.0064	0.0226	0.0221	0.0239	0	0.0024	0	0	0	0	7.351e-05	0.0057	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2205.94	33	chr6	87284874	.	TACTCC	T	2205.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.025;DP=955;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.97;ReadPosRankSum=0.787;SOR=0.677	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	20	0	1	0
chr6	87341239	87341239	C	T	exonic	SMIM8	.	nonsynonymous SNV	SMIM8:NM_001287445:exon3:c.C149T:p.S50F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000480547746474	.	.	.	.	.	.	.	.	.	.	.	.	.	rs371533520	2.031e-05	7.952e-06	8.234e-06	3.206e-05	1.899e-05	7.94e-06	4.32e-06	5.05e-06	2.4e-06	0	0	0.0002	0	0	0	1.899e-05	0	0	3.956e-05	3.946e-05	3.864e-05	4.053e-05	5.888e-05	1.72e-05	1.133e-05	1.974e-05	1.126e-05	0	0	0	0.0006	0	0	0	5.888e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.174	0.18649	.	.	.	.	.	.	.	0.062897205	0.08113	T	4.81E-4	0.00133	T	.	.	.	.	0.0401082797425	0.02173	.	.	.	.	.	.	.	0.015622	0.13069	T	-0.466168	0.00899	T	-0.907394	0.00452	T	.	.	.	0.348865	0.07732	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.45762	B	.	.	0.407018	0.07781	4.468	0.60750775516981637	0.06539	0.00435	0.02127	N	AEFDBHCI	0.023184	0.01257	N	.	.	.	.	.	.	0.00717249068661772	0.11402	0.106106	0.02776	0	0.067934	0.01796	0	0.125526	0.03468	0	0.041654	0.00081	2	.	.	0.69	-1.38	0.08554	-1.401000	0.02608	.	.	-0.365000	0.05478	0.000000	0.06391	.	.	0.318000	0.24924	.	.	.	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	651.98	35	chr6	87341239	.	C	T	651.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.47;DP=792;ExcessHet=0.0000;FS=2.145;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.35;ReadPosRankSum=-3.060e-01;SOR=1.101	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,120,1800	20	0	1	0
chr6	87418291	87418291	C	T	exonic	CFAP206	.	nonsynonymous SNV	CFAP206:NM_001031743:exon7:c.C715T:p.R239C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.024	B	0.011	B	0.018	N	0.695	D	1.245	L	1.45	T	-1.087	T	0.022	T	0.407	0.658	7.528	0.761	0.136	0.476	5.253	0.062	.	0.0035	0.00219649	0.0009	0.0104	0.0002	0	0	1.498e-05	0	0	0.0007891	122	154602	rs149134342	0.0003	0.0003	0.0003	0.0003	0.0113	0.0003	0.0003	0.0104	0.0100	0.0113	0.0002	0	0	0	0.0007	1.529e-05	0.0006	2.319e-05	0.0030	0.0030	0.0030	0.0031	0.0107	0.0028	0.0027	0.0099	0.0096	0.0107	0	0.0010	0	0	0	0	1.47e-05	0.0005	0	0.064	0.36509	T	0.124	0.44501	T	0.024	0.19075	B	0.011	0.15521	B	0.018191	0.27540	N	0.420757	0.694988	0.33364	D	.	.	.	1.44	0.32722	T	-3.49	0.70553	D	0.218	0.24385	-1.0872	0.06013	T	0.022	0.09559	T	10	0.01174444	0.00255	T	.	.	.	0.062	0.17934	.	.	0.374255764437	0.37033	0.2965965466707381	0.29572	0.217862726662	0.24320	.	.	.	0.315899	0.68748	T	-0.492122	0.00633	T	-0.469288	0.25592	T	0.00878645232968274	0.00108	T	0.80002	0.44558	T	0.08206361	0.18887	0.046393584	0.06456	0.08206361	0.18887	0.046393584	0.06455	-5.201	0.38952	T	.	.	0.084	0.10062	B	.;.	.;.	1.348362	0.17559	13.23	0.93703067657403694	0.23616	0.05836	0.11778	N	AEFI	0.066056	0.12916	N	-0.919123806638753	0.10395	0.4965417	-0.923019652844006	0.11552	0.589176	1.78363529148088E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.16	0.761	0.17594	0.603000	0.23848	0.193000	0.15765	-0.266000	0.06809	0.001000	0.13787	0.013000	0.20296	0.053000	0.15439	0.1373:0.5963:0.0:0.2664	5.253	0.14847	819	0.41190	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1492.98	33	chr6	87418291	.	C	T	1492.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.690;DP=847;ExcessHet=0.0000;FS=1.515;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=-1.040e-01;SOR=0.910	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1267	20	0	1	0
chr6	87418395	87418395	G	C	exonic	CFAP206	.	nonsynonymous SNV	CFAP206:NM_001031743:exon7:c.G819C:p.E273D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.992	D	0.000	D	1.000	D	2.485	M	1.28	T	-0.765	T	0.202	T	0.806	4.101	21.1	5.16	2.575	1.652	18.607	0.271	0.0232303268897	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259025975	3.42e-06	3.42e-06	2.723e-06	4.125e-06	4.497e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0	0	6.577e-06	6.569e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.055	0.38407	T	0.029	0.54541	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	.	.	.	1.28	0.35960	T	-2.43	0.53258	N	0.801	0.79696	-0.7652	0.57121	T	0.202	0.55877	T	10	0.8294134	0.82109	D	0.02323	0.46179	T	0.271	0.58633	0.614	0.74768	0.374076547971	0.37021	0.61957415389456	0.61890	0.386528501848	0.39939	.	.	.	0.483695	0.81132	T	0.0800007	0.62041	D	-0.122861	0.61566	T	0.980629205703735	0.73460	D	0.89491	0.63503	D	0.4585539	0.64581	0.36284363	0.61682	0.4585539	0.64582	0.36284363	0.61681	-5.167	0.38604	T	.	.	0.666	0.71558	P	.	.	3.660013	0.51986	23.2	0.99835784832420393	0.91714	0.94436	0.61160	D	AEFI	0.301989	0.41036	N	0.629584958714022	0.75052	6.238592	0.576534094258383	0.73261	5.941686	0.750394066702025	0.23351	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.16	5.16	0.70563	1.394000	0.34118	4.448000	0.43411	0.618000	0.50648	0.990000	0.36992	1.000000	0.68203	0.973000	0.55318	0.0:0.0:1.0:0.0	18.607	0.91225	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	253.98	48	chr6	87418395	.	G	C	253.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.725e+00;DP=1004;ExcessHet=0.0000;FS=63.131;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=0.948;SOR=5.890	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,18:70:99:0|1:87418395_G_C:268,0,1382:87418395	20	0	1	0
chr6	87418396	87418396	G	C	exonic	CFAP206	.	nonsynonymous SNV	CFAP206:NM_001031743:exon7:c.G820C:p.V274L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.097	B	0.11	B	0.099	N	1.000	N	1.04	L	1.55	T	-0.985	T	0.016	T	0.051	1.919	12.37	-6.98	-1.253	0.061	8.727	0.026	0.0107427859896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.513e-05	0.0003	1.917e-05	1.106e-05	1.991e-05	9.91e-06	8.46e-06	1.304e-05	1.113e-05	0	0	0	0	0	0	1.991e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.343	0.17857	T	0.02	0.18235	B	0.032	0.22131	B	0.098836	0.19962	N	0.536219	0.999595	0.20909	N	.	.	.	1.55	0.29866	T	-0.84	0.22944	N	0.136	0.13341	-0.9845	0.33951	T	0.016	0.06711	T	10	0.103265375	0.18974	T	0.010743	0.27620	T	0.026	0.05648	0.395	0.42099	0.0954503805726	0.09146	0.19020201639342502	0.18938	0.19954006279	0.22355	.	.	.	0.119676	0.44138	T	-0.336867	0.05608	T	-0.721662	0.04715	T	0.0796661600470543	0.09943	T	0.69863	0.30863	T	0.034879714	0.04001	0.093172565	0.21994	0.034879714	0.04001	0.093172565	0.21993	-3.521	0.16727	T	.	.	0.158	0.34949	B	.	.	0.840487	0.12120	8.673	0.80669705967739813	0.13312	0.64434	0.32406	D	AEFI	0.131428	0.25036	N	-0.974096222241832	0.09159	0.4323572	-0.954286185025139	0.10824	0.5476554	0.0029963270333614	0.09855	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.16	-6.98	0.01454	0.167000	0.16419	0.396000	0.17945	-0.241000	0.07509	0.882000	0.31029	0.767000	0.26670	0.976000	0.56436	0.1402:0.1105:0.6398:0.1095	8.727	0.33637	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3421	1158.48	77	chr6	87418396	.	G	C	1158.48	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-1.018e+00;DP=1449;ExcessHet=12.7758;FS=261.195;InbreedingCoeff=-0.5695;MLEAC=15;MLEAF=0.395;MQ=60.00;MQRankSum=0.00;QD=1.28;ReadPosRankSum=1.16;SOR=11.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,18:70:99:0|1:87418395_G_C:268,0,1382:87418395	6	0	13	2
chr6	87477478	87477478	A	G	exonic	SLC35A1	.	nonsynonymous SNV	SLC35A1:NM_001168398:exon2:c.A133G:p.T45A	Congenital disorder of glycosylation, type IIf, Autosomal recessive	YES	1	1511	10	0	0	10	0.00329815	.	.	301212	not_specified|SLC35A1-related_disorder|SLC35A1-congenital_disorder_of_glycosylation|not_provided	MedGen:CN169374|.|MONDO:MONDO:0011342,MedGen:C1970344,OMIM:603585,Orphanet:238459|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.997	D	0.953	D	0.000	U	1.000	D	2.93	M	0.97	T	-0.425	T	0.250	T	0.892	4.928	28.5	5.62	2.136	7.508	15.832	0.540	0.0326612292779	0.0035	0.00119808	0.0028	0.0004	0.0008	0	0.0045	0.0040	0.0011	0.0015	0.0027943	432	154602	rs145006535	0.0036	0.0036	0.0036	0.0035	0.0040	0.0035	0.0035	0.0039	0.0039	0.0006	0.0010	0.0010	0	0.0048	0.0016	0.0040	0.0032	0.0018	0.0025	0.0025	0.0024	0.0026	0.0041	0.0023	0.0022	0.0037	0.0035	0.0006	0.0154	0.0013	0.0023	0	0.0028	0	0.0041	0.0024	0.0008	0.005	0.68238	D	0.014	0.66756	D	0.997	0.70673	D	0.849	0.60615	P	0.000000	0.84330	U	0.000000	1	0.81001	D	2.79	0.81396	M	0.97	0.42502	T	-2.79	0.60982	D	0.736	0.77132	-0.4255	0.71213	T	0.250	0.61946	T	10	0.014591694	0.00307	T	0.032661	0.54424	D	0.540	0.80782	.	.	0.669058721763	0.66626	0.41167186885854895	0.41083	0.33965915445	0.35915	0.641223311424	0.58737	T	0.489453	0.86259	T	-0.0692385	0.41448	T	0.128583	0.78799	D	0.037991445227548	0.03331	T	0.921908	0.79334	D	0.4921462	0.66631	0.49747592	0.70942	0.49817705	0.66989	0.46913233	0.69210	-6.967	0.53792	T	0.4432579889255138	0.52839	0.476	0.63481	A	.;.;.;.	.;.;.;.	3.788783	0.54517	23.5	0.99808159561152143	0.89264	0.98559	0.84088	D	AEFBI	0.912368	0.87290	D	0.848798447708377	0.89040	9.810794	0.810342641673003	0.90504	10.43721	0.999999753741063	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.62	5.62	0.85714	7.494000	0.80344	5.240000	0.48059	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.832	0.78534	819	0.41190	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	757.98	33	chr6	87477478	.	A	G	757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.75;DP=758;ExcessHet=0.0000;FS=0.942;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.66;ReadPosRankSum=0.020;SOR=0.780	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1187	20	0	1	0
chr6	88047945	88047945	A	C	exonic	SPACA1	.	nonsynonymous SNV	SPACA1:NM_030960:exon1:c.A40C:p.M14L,	.	.	432	1081	8	1	0	10	0.00460405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.289	N	1.000	N	-0.895	N	2.12	T	-0.909	T	0.004	T	0.105	-1.212	0.067	2.0	0.583	0.301	4.743	0.018	.	0.0033	0.00199681	0.0045	0.0200	0.0065	0	0	0.0056	0	0.0005	0.0015265	236	154602	rs61729414	0.0017	0.0017	0.0018	0.0017	0.0101	0.0017	0.0017	0.0092	0.0089	0.0101	0.0019	0.0025	2.644e-05	0.0003	0.0053	0.0016	0.0028	0.0004	0.0042	0.0042	0.0043	0.0042	0.0114	0.0040	0.0039	0.0105	0.0102	0.0114	0	0.0015	0.0029	0.0002	0.0004	0	0.0019	0.0038	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.288883	0.14805	N	0.501136	0.999994	0.08975	N	-2.015	0.00187	N	2.12	0.19726	T	0.66	0.02297	N	0.166	0.17553	-0.9090	0.46977	T	0.004	0.01261	T	10	0.0054187775	0.00119	T	.	.	.	0.018	0.03083	0.427	0.47350	0.12205267543	0.11705	0.6427556109873355	0.64210	1.11010610359	0.78032	0.574258804321	0.49278	T	0.010343	0.09352	T	-0.670279	0.00055	T	-0.724555	0.04578	T	0.00163750133191855	0.00017	T	0.253875	0.03902	T	0.06741983	0.14597	0.06746652	0.13960	0.06741983	0.14597	0.06746652	0.13960	0.529	0.00207	T	.	.	0.044	0.00041	B	.	.	0.521670	0.08906	5.685	0.415595185455919	0.03006	0.03584	0.08802	N	AEFDBCI	0.017218	0.00437	N	-1.07845610004914	0.07042	0.3259315	-0.887082544438945	0.12399	0.6375853	0.00477201731635438	0.10707	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	3.79	2.0	0.25495	0.307000	0.19048	0.988000	0.23172	-0.253000	0.07101	0.998000	0.41325	1.000000	0.68203	0.134000	0.19723	0.2142:0.6736:0.0:0.1123	4.743	0.12398	382	0.83637	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	523.98	28	chr6	88047945	.	A	C	523.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=742;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=-5.360e-01;SOR=0.702	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr6	88053971	88053971	A	C	exonic	SPACA1	.	nonsynonymous SNV	SPACA1:NM_030960:exon2:c.A234C:p.E78D,	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.993	D	0.879	P	0.002	N	0.977	N	2.015	M	1.5	T	-1.064	T	0.090	T	0.34	3.629	18.46	4.62	2.285	2.334	10.565	0.064	0.0143992277048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.102	0.38450	T	0.993	0.65571	D	0.879	0.62418	P	0.001512	0.38793	N	0.183245	0.976599	0.25364	N	2.25	0.63811	M	1.5	0.31205	T	-1.53	0.37178	N	0.271	0.30687	-1.0644	0.10689	T	0.090	0.34655	T	10	0.30606598	0.48119	T	0.014399	0.34491	T	0.064	0.18567	0.333	0.32005	0.664167852428	0.66135	0.4094203460369015	0.40858	0.455815266524	0.45249	0.518364787102	0.41396	T	0.072304	0.34421	T	-0.11349	0.34191	T	-0.400797	0.33291	T	0.960540115833282	0.65832	D	0.617538	0.23656	T	0.3736855	0.58856	0.34410384	0.60112	0.3736855	0.58857	0.34410384	0.60111	-5.136	0.38284	T	.	.	0.455	0.62435	A	.	.	3.542099	0.49755	22.8	0.99863799123708707	0.94184	0.88776	0.48867	D	AEFBI	0.258172	0.37677	N	0.538436909991792	0.69380	5.348794	0.518350179476827	0.69226	5.330181	1.57229585304895E-4	0.05650	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.97	4.62	0.56946	2.347000	0.43692	6.902000	0.56873	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.8723:0.0:0.1277:0.0	10.565	0.44354	391	0.83213	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	737.98	34	chr6	88053971	.	A	C	737.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.166e+00;DP=775;ExcessHet=0.0000;FS=5.792;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.89;ReadPosRankSum=-6.300e-01;SOR=1.182	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,949	20	0	1	0
chr6	88059514	88059514	T	C	exonic	SPACA1	.	nonsynonymous SNV	SPACA1:NM_030960:exon5:c.T536C:p.L179S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.589	P	0.173	B	0.062	N	1.000	N	1.61	L	2.03	T	-0.995	T	0.022	T	0.375	0.855	8.459	2.98	0.316	0.842	7.254	0.059	0.0101402301981	0.0014	0.000399361	0.0003	0.0040	0	0	0	0	0.0011	0	0.0003105	48	154602	rs61739907	0.0001	0.0001	0.0001	9.629e-05	0.0042	0.0001	9.904e-05	0.0037	0.0035	0.0042	0.0002	0	0	0	0.0003	0	0.0003	3.483e-05	0.0011	0.0011	0.0011	0.0012	0.0040	0.0010	0.0009	0.0035	0.0033	0.0040	0	0.0003	0	0	0	0	0	0.0005	0	0.019	0.50132	D	0.02	0.58613	D	0.589	0.39027	P	0.173	0.35463	B	0.061546	0.02146	N	2.313130	1	0.08975	N	1.995	0.54099	M	2.03	0.20959	T	-3.13	0.63901	D	0.325	0.36569	-0.9948	0.31352	T	0.022	0.09421	T	10	0.010364503	0.00231	T	0.01014	0.26324	T	0.059	0.16972	.	.	0.168933306366	0.16529	0.37520038576523423	0.37434	0.130426468933	0.14709	0.255549430847	0.04374	T	0.197043	0.55360	T	-0.480497	0.00734	T	-0.463121	0.26260	T	0.0362958029993169	0.03032	T	0.439156	0.12095	T	0.14835249	0.33872	0.15144128	0.35673	0.14835249	0.33872	0.15144128	0.35672	-3.015	0.10343	T	.	.	0.301	0.53095	B	.	.	1.849012	0.23491	16.04	0.98225897507510018	0.39343	0.11239	0.16501	N	AEFGBIJ	0.077454	0.15606	N	-0.446075531947286	0.23873	1.28512	-0.516359571954346	0.21708	1.175666	2.52816071656455E-4	0.06190	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.5	2.98	0.33575	0.865000	0.27595	1.143000	0.24420	0.665000	0.62972	0.146000	0.23595	0.822000	0.27135	0.515000	0.29359	0.1524:0.0:0.1443:0.7033	7.254	0.25339	400	0.82730	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	760.98	36	chr6	88059514	.	T	C	760.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.279;DP=784;ExcessHet=0.0000;FS=1.734;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.46;ReadPosRankSum=-3.490e-01;SOR=0.509	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1052	20	0	1	0
chr6	88059516	88059516	G	A	exonic	SPACA1	.	nonsynonymous SNV	SPACA1:NM_030960:exon5:c.G538A:p.A180T,	.	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.753	P	0.349	B	0.009	N	0.980	N	1.59	L	1.95	T	-1.079	T	0.024	T	0.427	1.580	11.24	4.64	1.317	3.310	9.853	0.070	0.00559961271463	.	.	8.282e-06	0	0	0	0	0	0	6.116e-05	6.5e-06	1	154602	rs762285405	1.643e-05	1.642e-05	1.362e-05	1.926e-05	0.0005	1.111e-05	9.34e-06	0.0001	7.544e-05	0	0	0	0	1.873e-05	0.0005	8.097e-06	1.656e-05	0.0001	0	6.567e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.096	0.31088	T	0.192	0.28300	T	0.753	0.43334	P	0.349	0.42787	B	0.008941	0.30588	N	0.281863	0.979647	0.25167	N	2.25	0.63811	M	1.95	0.22474	T	-2.27	0.50666	N	0.223	0.25006	-1.0790	0.07543	T	0.024	0.10284	T	10	0.21519649	0.38064	T	0.006	0.14469	T	0.070	0.20419	0.289	0.24921	0.401612077098	0.39776	0.25364453869830067	0.25278	0.292073870543	0.31614	0.342493981123	0.16811	T	0.061107	0.31566	T	-0.309187	0.07820	T	-0.445234	0.28225	T	0.732168674468994	0.42322	D	0.762524	0.38803	T	0.07457932	0.16745	0.09552213	0.22659	0.07457932	0.16745	0.09552213	0.22658	-1.343	0.01472	T	.	.	0.172	0.37783	B	.	.	1.898312	0.24109	16.27	0.99247887607578689	0.56759	0.73432	0.35920	D	AEFGBIJ	0.108773	0.21627	N	0.0781759903106359	0.45445	2.800992	0.0812748153666223	0.43608	2.659007	0.00224704135158512	0.09262	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.5	4.64	0.57399	3.420000	0.52493	5.812000	0.50015	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.668000	0.33194	0.1621:0.0:0.8379:0.0	9.853	0.40234	400	0.82730	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	744.98	36	chr6	88059516	.	G	A	744.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.010e-01;DP=783;ExcessHet=0.0000;FS=0.817;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.56;ReadPosRankSum=-7.150e-01;SOR=0.771	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1052	20	0	1	0
chr6	89149329	89149329	G	T	exonic	PM20D2	.	nonsynonymous SNV	PM20D2:NM_001010853:exon2:c.G530T:p.G177V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.41	H	0.4	T	0.364	D	0.534	D	0.951	4.760	26.7	5.87	2.941	8.777	20.193	0.704	0.0809353473082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.235	0.97980	H	0.4	0.57261	T	-8.84	0.97846	D	0.979	0.98929	0.364	0.88548	D	0.534	0.82753	D	10	0.9816208	0.98196	D	0.080935	0.73570	D	0.704	0.89376	0.915	0.98384	0.886502306561	0.88538	0.9714040888900445	0.97129	0.636712139675	0.57440	0.702384591103	0.67488	T	0.470283	0.80346	T	0.366805	0.87772	D	0.289114	0.87615	D	0.999740064144135	0.98780	D	0.928207	0.73493	D	0.9907454	0.99802	0.9851459	0.99926	0.9907454	0.99802	0.9851459	0.99926	-12.368	0.86597	D	.	.	0.836	0.79030	P	.	.	5.115965	0.85548	28.6	0.99787788670046829	0.87396	0.99742	0.99125	D	AEFDBI	0.897215	0.83915	D	1.17249399905379	0.99257	21.51048	1.08194681370508	0.99678	25.14374	0.99999999999985	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.87	5.87	0.94266	8.953000	0.92934	11.741000	0.95195	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.193	0.98235	907	0.22727	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	656.98	34	chr6	89149329	.	G	T	656.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.660e-01;DP=763;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.76;ReadPosRankSum=-1.179e+00;SOR=0.690	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1203	20	0	1	0
chr6	89162129	89162129	T	A	exonic	PM20D2	.	nonsynonymous SNV	PM20D2:NM_001010853:exon7:c.T1177A:p.Y393N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.707	P	0.214	B	0.000	D	1.000	D	1.385	L	1.0	T	-1.099	T	0.051	T	0.647	2.837	15.45	5.94	2.272	5.513	15.576	0.104	0.0134772612325	7.7e-05	0.000599042	0.0006	0	0	0	0	0	0	0.0044	0.0004916	76	154602	rs143115350	0.0002	0.0002	0.0001	0.0003	0.0038	0.0002	0.0002	0.0035	0.0034	0	0	0	0	0	0.0002	1.799e-06	0.0002	0.0038	0.0001	0.0001	3.854e-05	0.0002	0.0033	6.505e-05	5.318e-05	0.0021	0.0017	0	0	0	0	0	0	0	0	0	0.0033	0.357	0.12032	T	0.317	0.19304	T	0.707	0.42016	P	0.214	0.37471	B	0.000001	0.84330	D	0.056217	0.999888	0.50402	D	1.965	0.53209	M	1.0	0.41392	T	-1.99	0.45949	N	0.707	0.71055	-1.0991	0.04202	T	0.051	0.21533	T	10	0.017188728	0.00366	T	0.013477	0.32916	T	0.104	0.29647	.	.	0.665184242013	0.66237	0.8906495309461723	0.89034	0.204182828251	0.22841	0.553858160973	0.46401	T	0.027148	0.19941	T	-0.324399	0.06544	T	-0.239591	0.50838	T	0.059293572338216	0.07056	T	0.948605	0.80233	D	0.4135193	0.61658	0.36522648	0.61875	0.4135193	0.61658	0.36522648	0.61875	-8.659	0.65478	D	.	.	0.253	0.48787	B	.	.	3.109739	0.41939	21.4	0.94515085266184806	0.25000	0.98559	0.84088	D	AEFDBIJ	0.611053	0.59965	D	0.259293574631935	0.54099	3.576482	0.387686167196397	0.60805	4.272298	0.999999920847736	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.94	5.94	0.96165	5.496000	0.66636	4.246000	0.42732	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.893000	0.43066	0.0:0.0:0.0:1.0	15.576	0.76129	904	0.23766	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	631.98	35	chr6	89162129	.	T	A	631.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.710e-01;DP=808;ExcessHet=0.0000;FS=2.053;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.03;ReadPosRankSum=-3.080e-01;SOR=0.998	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr6	89672229	89672229	C	T	exonic	MDN1	.	nonsynonymous SNV	MDN1:NM_014611:exon82:c.G13765A:p.G4589S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87	T	0.224	B	0.022	B	0.000	N	0.941	N	0.93	L	1.65	T	-0.984	T	0.016	T	0.312	1.071	9.373	4.07	0.716	1.808	11.714	0.044	0.0143990733076	.	.	2.488e-05	0	0	0.0002	0	0	0	6.252e-05	1.94e-05	3	154602	rs766400009	2.764e-05	2.736e-05	2.475e-05	3.057e-05	7.587e-05	2.084e-05	1.834e-05	2.012e-05	1.746e-05	6.186e-05	0	0	7.587e-05	0	0	2.797e-05	3.345e-05	2.406e-05	6.573e-06	6.567e-06	1.285e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.46	0.08736	T	.	.	.	0.224	0.30397	B	0.022	0.19653	B	0.000078	0.52346	N	0.138156	0.940796	0.26798	N	1.355	0.33814	L	1.65	0.27650	T	-1.52	0.36980	N	0.237	0.26717	-0.9841	0.34045	T	0.016	0.06377	T	10	0.036904722	0.02014	T	0.014399	0.34491	T	0.044	0.11924	0.275	0.22687	0.382607109125	0.37878	0.10060243318204566	0.09991	0.15514441455	0.17517	0.292324781418	0.09261	T	0.009347	0.08516	T	-0.378351	0.03191	T	-0.511951	0.21114	T	0.0386644415729103	0.03450	T	0.754025	0.37642	T	0.02740232	0.01928	0.041761	0.04819	0.02740232	0.01928	0.041761	0.04819	-2.381	0.05018	T	.	.	0.089	0.11941	B	.;.	.;.	1.591636	0.20356	14.71	0.7799929726378857	0.12112	0.23078	0.21958	N	AEFBI	0.043240	0.06810	N	-0.713137339269737	0.15652	0.7906704	-0.653497480175674	0.18128	0.9670633	0.0225999224458881	0.13443	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.06	4.07	0.46726	1.849000	0.38958	1.757000	0.28522	0.599000	0.40250	0.204000	0.24355	0.007000	0.19602	0.041000	0.14368	0.0:0.8219:0.0:0.1781	11.714	0.50909	798	0.45050	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	644.98	34	chr6	89672229	.	C	T	644.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.205;DP=763;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.72;ReadPosRankSum=-2.290e-01;SOR=0.730	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1208	20	0	1	0
chr6	89693144	89693144	G	C	exonic	MDN1	.	nonsynonymous SNV	MDN1:NM_014611:exon63:c.C9886G:p.L3296V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.874	P	0.000	D	0.577	D	2.43	M	3.79	T	-1.152	T	0.024	T	0.493	0.234	5.265	5.05	2.509	3.838	10.100	0.205	0.0160371383561	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	.	.	.	0.999	0.77913	D	0.874	0.62049	P	0.000002	0.62929	D	0.000000	0.577338	0.32345	D	2.555	0.74557	M	3.79	0.03809	T	-2.13	0.48354	N	0.422	0.48963	-1.1521	0.00963	T	0.024	0.10329	T	10	0.48533344	0.60674	T	0.016037	0.37096	T	0.205	0.49236	0.38	0.39645	0.329044607051	0.32520	0.41771804153966446	0.41687	0.645998904403	0.58027	0.388187289238	0.23415	T	0.011553	0.10295	T	-0.0923919	0.37681	T	-0.370491	0.36831	T	0.891441524028778	0.54240	D	0.820618	0.47957	T	0.26421723	0.49488	0.15259548	0.35895	0.26421723	0.49488	0.15259548	0.35894	-5.715	0.43827	T	.	.	0.174	0.38080	B	.;.	.;.	2.979128	0.39734	21.0	0.85201107609771498	0.15747	0.96675	0.70342	D	AEFBI	0.274022	0.38930	N	0.382413955153428	0.60468	4.236139	0.250633982971249	0.52686	3.441739	0.999804341359449	0.43304	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.674467	0.66132	0	.	.	5.05	5.05	0.67566	4.806000	0.62261	11.794000	0.96459	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.030000	0.13115	0.1256:0.0:0.8744:0.0	10.100	0.41670	800	0.44535	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1127.98	38	chr6	89693144	.	G	C	1127.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.350e+00;DP=916;ExcessHet=0.0000;FS=5.394;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=0.181;SOR=0.326	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	20	0	1	0
chr6	89713209	89713209	G	A	exonic	MDN1	.	nonsynonymous SNV	MDN1:NM_014611:exon47:c.C7157T:p.A2386V,	.	.	416	1105	1	0	0	1	0.000452284	.	.	3214201	MDN1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.06	T	0.576	P	0.152	B	0.000	D	0.993	D	1.995	M	3.48	T	-1.054	T	0.013	T	0.242	3.943	20.2	5.94	2.812	5.398	16.585	0.125	.	0.0072	0.00678914	0.0019	0.0202	0.0015	0	0	3.003e-05	0	0	0.0014748	228	154602	rs115382023	0.0005	0.0005	0.0006	0.0004	0.0176	0.0005	0.0005	0.0164	0.0159	0.0176	0.0014	0	0	0	0.0007	4.497e-06	0.0012	3.478e-05	0.0059	0.0059	0.0057	0.0062	0.0195	0.0056	0.0055	0.0184	0.0180	0.0195	0	0.0051	0	0	0	0	2.94e-05	0.0038	0.0004	0.008	0.58626	D	.	.	.	0.576	0.38723	P	0.152	0.34249	B	0.000006	0.62929	D	0.061993	0.992546	0.41675	D	2.515	0.73286	M	3.48	0.05130	T	-2.89	0.60665	D	0.578	0.60495	-1.0539	0.13332	T	0.013	0.05321	T	10	0.0065952837	0.00149	T	.	.	.	0.125	0.34456	.	.	0.244449712813	0.24043	0.5629425373566164	0.56221	0.577941031385	0.53705	0.438281059265	0.30342	T	0.011512	0.10265	T	-0.499468	0.00576	T	-0.474633	0.25019	T	0.0592927367816222	0.07056	T	0.820618	0.47957	T	0.27779037	0.50835	0.31645486	0.57626	0.27779037	0.50835	0.31645486	0.57625	-3.353	0.14431	T	.	.	0.472	0.63291	A	.;.	.;.	3.485837	0.48698	22.7	0.99836071774362167	0.91714	0.97989	0.78678	D	AEFBI	0.511330	0.54001	D	0.404352045825806	0.61661	4.37021	0.51857117185259	0.69241	5.332333	0.999990679608749	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.94	5.94	0.96165	5.210000	0.65047	11.919000	0.99774	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1301:0.8699:0.0	16.585	0.84576	803	0.44167	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	681.98	33	chr6	89713209	.	G	A	681.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.532;DP=758;ExcessHet=0.0000;FS=0.907;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.61;ReadPosRankSum=0.302;SOR=0.892	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1320	20	0	1	0
chr6	89715728	89715728	C	T	exonic	MDN1	.	nonsynonymous SNV	MDN1:NM_014611:exon45:c.G6785A:p.G2262E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.382	B	0.444	B	0.000	D	1.000	D	1.12	L	0.62	T	-1.035	T	0.103	T	0.755	3.801	19.30	5.51	2.736	4.527	19.782	0.236	0.0184786797458	.	.	1.648e-05	0	0	0	0	1.498e-05	0	6.057e-05	1.29e-05	2	154602	rs755548910	2.052e-06	2.052e-06	0	4.126e-06	1.159e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.33418	T	.	.	.	0.382	0.34403	B	0.444	0.45865	B	0.000020	0.62929	D	0.116355	0.999999	0.58761	D	1.07	0.27075	L	0.62	0.53302	T	-4.15	0.75297	D	0.652	0.66873	-1.0353	0.18762	T	0.103	0.37894	T	10	0.44189614	0.58154	T	0.018479	0.40558	T	0.236	0.53931	0.472	0.54699	0.355939216326	0.35206	0.6353287957040321	0.63466	0.725514030522	0.62459	0.679958999157	0.64262	T	0.060016	0.31273	T	0.0112531	0.53195	T	-0.124758	0.61411	T	0.902304828166962	0.55523	D	0.960604	0.85218	D	0.4182326	0.61974	0.4909089	0.70548	0.4182326	0.61975	0.4909089	0.70549	-5.148	0.38408	T	.	.	0.145	0.32005	B	.;.	.;.	4.024691	0.59468	24.1	0.99619156527580666	0.75293	0.99035	0.90275	D	AEFBI	0.580789	0.58106	D	0.228441920671358	0.52581	3.431414	0.362777333722991	0.59280	4.104595	0.999983903005647	0.51787	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.674467	0.66132	0	.	.	5.51	5.51	0.81769	4.586000	0.60695	7.724000	0.67448	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	19.782	0.96414	803	0.44167	ATPase, dynein-related, AAA domain|AAA+ ATPase domain;ATPase, dynein-related, AAA domain|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1061.98	33	chr6	89715728	.	C	T	1061.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.135;DP=749;ExcessHet=0.0000;FS=0.960;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.09;ReadPosRankSum=0.347;SOR=0.551	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1162	20	0	1	0
chr6	89750438	89750438	T	C	exonic	MDN1	.	nonsynonymous SNV	MDN1:NM_014611:exon24:c.A3322G:p.I1108V,	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.994	D	0.968	D	0.000	D	1.000	D	1.595	L	1.07	T	-0.891	T	0.157	T	0.453	2.410	14.02	5.64	2.156	7.578	15.853	0.266	0.0371535008317	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1173214527	2.053e-06	2.052e-06	2.723e-06	1.375e-06	2.987e-05	5.5e-07	1.5e-07	.	.	2.987e-05	0	0	0	0	0	0	1.656e-05	1.159e-05	6.569e-06	6.566e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.154	0.32296	T	0.062	0.45318	T	0.994	0.66517	D	0.968	0.71741	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.41	0.35535	L	1.07	0.39586	T	-0.7	0.20358	N	0.475	0.54932	-0.8906	0.48881	T	0.157	0.48976	T	10	0.41311488	0.56360	T	0.037154	0.57442	D	0.266	0.57999	0.55	0.66576	0.223474106383	0.21959	0.5157497530922376	0.51497	0.519204168582	0.49747	0.651280164719	0.60168	T	0.048248	0.27962	T	-0.181989	0.23439	T	-0.317663	0.42831	T	0.421928197349045	0.29762	T	0.946405	0.91883	D	0.10604205	0.25073	0.14390226	0.34183	0.10604205	0.25073	0.14390226	0.34182	-7.108	0.54818	T	.	.	0.166	0.36850	B	.;.;.	.;.;.	3.033336	0.40636	21.2	0.99095683731709649	0.52321	0.99411	0.95685	D	AEFDGBI	0.777858	0.71054	D	0.46872652369813	0.65273	4.801859	0.408384572964004	0.62084	4.418315	0.999999903872868	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.64	5.64	0.86480	7.555000	0.81171	5.002000	0.46604	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.855000	0.40485	0.0:0.0:0.0:1.0	15.853	0.78727	773	0.48803	ATPase, dynein-related, AAA domain|AAA+ ATPase domain;ATPase, dynein-related, AAA domain|AAA+ ATPase domain;ATPase, dynein-related, AAA domain|AAA+ ATPase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1003.98	35	chr6	89750438	.	T	C	1003.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.570e-01;DP=763;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.03;ReadPosRankSum=-1.393e+00;SOR=0.737	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1176	20	0	1	0
chr6	89751527	89751527	G	A	exonic	MDN1	.	nonsynonymous SNV	MDN1:NM_014611:exon23:c.C3131T:p.A1044V,	.	.	430	1088	4	0	0	4	0.00183486	.	.	3205993	MDN1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.25	T	0.037	B	0.012	B	0.007	N	0.930	N	0.69	N	4.01	T	-1.051	T	0.017	T	0.089	2.963	15.88	5.71	2.689	7.183	19.863	0.061	.	0.0067	0.00599042	0.0018	0.0193	0.0008	0	0	2.998e-05	0	0.0002	0.0017335	268	154602	rs34764513	0.0006	0.0006	0.0007	0.0005	0.0203	0.0006	0.0005	0.0190	0.0185	0.0203	0.0008	0	2.52e-05	0	0.0010	3.957e-05	0.0014	3.478e-05	0.0058	0.0058	0.0062	0.0054	0.0202	0.0055	0.0054	0.0190	0.0186	0.0202	0	0.0020	0	0	0	0	2.941e-05	0.0057	0.0004	0.709	0.15303	T	0.276	0.21947	T	0.037	0.20876	B	0.012	0.16012	B	0.006924	0.31707	N	0.303152	0.930316	0.27074	N	1.355	0.33814	L	4.01	0.18083	T	-1.78	0.48523	N	0.267	0.31253	-1.0507	0.14203	T	0.017	0.06902	T	10	0.004235357	0.00085	T	.	.	.	0.061	0.17616	.	.	0.117191471859	0.11215	0.43681107129476615	0.43598	0.153493315796	0.17316	0.367078244686	0.20411	T	0.009509	0.08653	T	-0.595249	0.00156	T	-0.61089	0.11913	T	0.0540678540156094	0.06201	T	0.716128	0.34567	T	0.06554589	0.14020	0.09213954	0.21700	0.06554589	0.14019	0.09213954	0.21700	-7.438	0.57172	T	.	.	0.093	0.16187	B	.;.;.	.;.;.	3.708803	0.52937	23.3	0.95514063250951431	0.27122	0.98370	0.82087	D	AEFBI	0.768047	0.70372	D	0.0601487895694336	0.44610	2.731953	0.281835417868857	0.54478	3.612783	0.999709550829031	0.41986	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.71	5.71	0.89031	7.299000	0.78160	9.806000	0.81721	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:1.0:0.0	19.863	0.96786	773	0.48803	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1701.98	37	chr6	89751527	.	G	A	1701.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.200e-01;DP=839;ExcessHet=0.0000;FS=1.453;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=-1.679e+00;SOR=0.843	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1312	20	0	1	0
chr6	89781454	89781454	C	T	exonic	MDN1	.	nonsynonymous SNV	MDN1:NM_014611:exon10:c.G1588A:p.E530K,	.	.	426	1081	15	0	0	15	0.00689022	.	.	3211660	MDN1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.9	T	0.842	P	0.191	B	0.000	D	0.993	D	0.805	L	4.05	T	-1.048	T	0.009	T	0.606	1.154	9.699	4.71	1.466	2.901	9.367	0.158	.	.	0.00738818	0.0041	0.0002	0.0002	0	0	0.0002	0.0044	0.0288	0.0036028	557	154602	rs541485676	0.0017	0.0017	0.0009	0.0025	0.0259	0.0017	0.0016	0.0250	0.0246	0	0.0003	3.826e-05	2.519e-05	0	0.0035	0.0001	0.0015	0.0259	0.0009	0.0009	0.0004	0.0015	0.0277	0.0008	0.0008	0.0239	0.0225	0	0	0.0003	0	0	0	0	4.41e-05	0.0005	0.0277	0.583	0.05936	T	0.845	0.03558	T	0.294	0.32391	B	0.191	0.36391	B	0.000052	0.53742	D	0.165787	0.993363	0.41917	D	2.885	0.83555	M	4.05	0.16794	T	-0.92	0.39119	N	0.591	0.61087	-1.0477	0.15045	T	0.009	0.03011	T	10	0.004194349	0.00083	T	.	.	.	0.158	0.41098	.	.	0.401208672323	0.39738	0.36181159390552403	0.36095	0.195003835191	0.21838	0.420248866081	0.27869	T	0.006624	0.06047	T	-0.428569	0.01512	T	-0.367436	0.37190	T	0.070458642551729	0.08715	T	0.856014	0.54441	D	0.08783694	0.20468	0.102219954	0.24493	0.08783694	0.20468	0.102219954	0.24493	-4.158	0.26141	T	.	.	0.077	0.08224	B	.;.;.	.;.;.	2.891625	0.38301	20.7	0.98014480548616889	0.37582	0.84961	0.44058	D	AEFBCI	0.135125	0.25537	N	-0.262637099284151	0.30601	1.707877	-0.160471697672017	0.33007	1.883656	0.829261178074684	0.24663	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.59	4.71	0.59010	2.554000	0.45507	3.717000	0.39574	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.339000	0.25409	0.0:0.779:0.1458:0.0752	9.367	0.37390	632	0.64850	AAA+ ATPase domain;AAA+ ATPase domain;AAA+ ATPase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4036.11	33	chr6	89781454	.	C	T	4036.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.370e-01;DP=1037;ExcessHet=0.1072;FS=3.310;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.91;ReadPosRankSum=1.14;SOR=0.712	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1221	19	0	2	0
chr6	89790292	89790292	T	C	exonic	MDN1	.	nonsynonymous SNV	MDN1:NM_014611:exon6:c.A965G:p.Q322R,	.	.	416	1102	4	0	0	4	0.00181159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.344	B	0.053	B	0.000	D	0.983	D	1.5	L	1.24	T	-1.104	T	0.028	T	0.214	1.882	12.25	3.76	1.857	5.157	9.936	0.066	0.0118854708636	7.7e-05	.	8.237e-05	0	0	0	0	0.0001	0.0011	0.0001	6.47e-05	10	154602	rs151070753	8.277e-05	8.277e-05	6.125e-05	0.0001	0.0003	7.069e-05	6.618e-05	0.0002	0.0002	2.987e-05	6.708e-05	3.826e-05	0	0	0.0002	5.935e-05	0.0003	0.0003	0.0001	0.0001	5.143e-05	0.0002	0.0011	9.154e-05	7.709e-05	0.0007	0.0006	0	0	0.0011	0	0	0	0	5.881e-05	0	0	0.406	0.10278	T	0.853	0.03477	T	0.001	0.07471	B	0.005	0.11217	B	0.000016	0.62929	D	0.070788	0.982954	0.39954	D	2.14	0.59869	M	1.24	0.36691	T	-1.48	0.41618	N	0.137	0.17278	-1.1039	0.03651	T	0.028	0.12103	T	10	0.099221736	0.17992	T	0.011885	0.29939	T	0.066	0.19193	.	.	0.487027601959	0.48335	0.6367460417158235	0.63608	0.166143637461	0.18748	0.542653203011	0.44820	T	0.005313	0.04761	T	-0.373318	0.03430	T	-0.463504	0.26218	T	0.0275210347026587	0.01619	T	0.727827	0.34232	T	0.24838108	0.47824	0.15474996	0.36305	0.24838108	0.47824	0.15474996	0.36304	-4.832	0.34962	T	.	.	0.062	0.09578	B	.;.;.	.;.;.	2.573371	0.33351	19.31	0.97529406413709108	0.34448	0.95655	0.65597	D	AEFGBI	0.376318	0.46051	N	-0.110411095325997	0.36939	2.142039	0.0401841377285973	0.41599	2.501973	0.986972796152442	0.31161	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.91	3.76	0.42368	5.141000	0.64655	1.534000	0.27180	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0798:0.0:0.9202	9.936	0.40724	576	0.70006	AAA+ ATPase domain;AAA+ ATPase domain;AAA+ ATPase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1737.98	42	chr6	89790292	.	T	C	1737.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.278e+00;DP=865;ExcessHet=0.0000;FS=2.096;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=-1.012e+00;SOR=0.576	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1379	20	0	1	0
chr6	89862497	89862497	G	A	exonic	CASP8AP2	.	nonsynonymous SNV	CASP8AP2:NM_001137667:exon7:c.G788A:p.R263Q	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.348e-06	0	0	0	0	1.51e-05	0	0	6.5e-06	1	154602	rs200917530	2.139e-05	1.779e-05	2.121e-05	2.159e-05	0.0002	1.488e-05	1.265e-05	1.51e-05	1.289e-05	0	0	0	0	0	0.0002	2.307e-05	4.545e-05	1.202e-05	6.57e-06	6.567e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.205	0.27145	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23463932	0.40508	T	.	.	.	.	.	.	.	0.725308686764	0.72288	0.09281310918753018	0.09213	.	.	0.194469794631	0.00314	T	0.013021	0.11342	T	-0.200156	0.20783	T	-0.417629	0.31348	T	.	.	.	0.776122	0.40827	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.18289	B	.;.;.	.;.;.	2.826584	0.37253	20.4	0.62850827127624964	0.07069	0.74221	0.36306	D	ALL	.	.	.	.	.	.	.	.	.	0.999995270435996	0.74766	0.423476	0.06517	0	0.410168	0.06389	1	0.343423	0.05949	0	0.322829	0.05601	0	0.141427	0.26771	5.75	4.87	0.62877	4.057000	0.57168	5.850000	0.50329	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.3123:0.0:0.6877:0.0	6.519	0.21461	561	0.71236	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1807.98	43	chr6	89862497	.	G	A	1807.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=861;ExcessHet=0.0000;FS=0.594;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=-4.910e-01;SOR=0.753	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1044	20	0	1	0
chr6	93410600	93410600	C	T	exonic	EPHA7	.	nonsynonymous SNV	EPHA7:NM_001288629:exon3:c.G733A:p.A245T	.	.	421	1081	20	0	0	20	0.0091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.017	B	0.021	B	0.000	D	0.925	N	0	N	4.42	T	-1.058	T	0.073	T	0.107	1.386	10.57	4.3	1.010	5.865	13.048	0.043	0.0116223800209	0.0009	0.00119808	0.0016	0.0008	0.0014	0	0	0.0017	0	0.0033	0.0014683	227	154602	rs41273629	0.0011	0.0011	0.0011	0.0012	0.0068	0.0011	0.0011	0.0051	0.0045	0.0002	0.0013	0.0022	0.0001	0	0.0068	0.0010	0.0016	0.0034	0.0011	0.0011	0.0011	0.0011	0.0023	0.0010	0.0009	0.0013	0.0012	0.0003	0	0.0018	0.0026	0.0004	0	0	0.0016	0.0014	0.0023	0.538	0.08787	T	1.0	0.07244	T	0.003	0.17573	B	0.002	0.19346	B	0.000000	0.84330	D	0.053473	0.924721	0.27208	N	0.36	0.11994	N	-0.59	0.71543	T	0.65	0.03521	N	0.128	0.12198	-1.0578	0.12311	T	0.073	0.29483	T	10	0.0044355392	0.00091	T	0.011622	0.29427	T	0.043	0.11576	.	.	0.204265027416	0.20035	0.4742936788225149	0.47348	0.382226825231	0.39557	0.694450557232	0.66345	T	0.028586	0.20673	T	-0.490374	0.00647	T	-0.479901	0.24457	T	0.00553933447773177	0.00060	T	0.427757	0.27667	T	0.14621846	0.33482	0.17927508	0.40650	0.14621846	0.33482	0.17927508	0.40650	-4.173	0.29638	T	.	.	0.066	0.02228	B	.;.	.;.	3.397506	0.47066	22.4	0.92953703828481027	0.22526	0.87652	0.47263	D	AEFBI	0.123608	0.23929	N	-0.42491439724956	0.24598	1.32935	-0.190630508207039	0.31880	1.808361	0.0229919285950948	0.13474	0.562547	0.31514	0	0.573888	0.26702	0	0.608884	0.39905	0	0.530356	0.10902	0	.	.	5.46	4.3	0.50540	3.356000	0.51987	5.395000	0.48494	-0.045000	0.17359	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.865:0.135:0.0:0.0	13.048	0.58346	944	0.12746	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	5508.08	36	chr6	93410600	.	C	T	5508.08	.	AC=2;AF=0.048;AN=42;DP=1309;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.59;SOR=0.753	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	1	0	0
chr6	98917691	98917691	T	C	exonic	FBXL4	.	nonsynonymous SNV	FBXL4:NM_012160:exon4:c.A541G:p.T181A	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), Autosomal recessive	.	434	1084	4	0	0	4	0.00184162	.	.	431286	Mitochondrial_DNA_depletion_syndrome_13|not_provided	MONDO:MONDO:0014198,MedGen:C3809592,OMIM:615471,Orphanet:369897|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.74	T	0.012	B	0.014	B	0.000	D	0.984	D	2.045	M	2.48	T	-1.035	T	0.013	T	0.238	2.082	12.92	4.62	1.011	2.066	7.151	0.085	0.00863604743376	0.0005	0.000199681	0.0003	9.854e-05	0	0	0	0.0004	0.0011	0.0002	0.0003299	51	154602	rs150748757	0.0003	0.0003	0.0003	0.0003	0.0007	0.0003	0.0003	0.0004	0.0004	3.007e-05	0.0002	0	0	0	0.0007	0.0004	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	9.623e-05	0	0.0001	0	0	0	0.0034	0.0004	0.0005	0	0.158	0.23905	T	0.724	0.05274	T	0.012	0.16265	B	0.014	0.16862	B	0.000059	0.53742	D	0.196579	0.983628	0.40038	D	1.645	0.42016	L	2.48	0.14657	T	-0.87	0.23590	N	0.218	0.24385	-1.0346	0.18983	T	0.013	0.05081	T	10	0.04286036	0.03077	T	0.008636	0.22829	T	0.085	0.24743	.	.	0.317958651998	0.31400	0.4082635653709491	0.40742	0.0698128753947	0.07817	0.378134071827	0.21991	T	0.028199	0.20479	T	-0.461516	0.00962	T	-0.548993	0.17422	T	0.0127827912111968	0.00217	T	0.623938	0.24053	T	0.07017651	0.15436	0.07206919	0.15505	0.07017651	0.15436	0.07206919	0.15505	-4.288	0.28008	T	0.15105064295786647	0.17790	0.059	0.00754	B	.;.	.;.	2.152013	0.27411	17.45	0.9790374715360266	0.36759	0.92568	0.56018	D	AEFBI	0.439729	0.49858	N	-0.235118965289702	0.31702	1.780256	-0.0764354541512263	0.36367	2.115504	0.0279721304378292	0.13805	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.78	4.62	0.56946	2.052000	0.40941	2.925000	0.35585	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1312:0.072:0.0:0.7968	7.151	0.24786	848	0.35897	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	610.98	34	chr6	98917691	.	T	C	610.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=742;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=-1.221e+00;SOR=0.518	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1154	20	0	1	0
chr6	99445817	99445817	T	C	exonic	USP45	.	nonsynonymous SNV	USP45:NM_001346024:exon12:c.A1781G:p.Q594R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.012	B	0.01	B	0.162	N	1.000	D	1.115	L	3.66	T	-0.932	T	0.009	T	0.102	-0.648	1.146	-2.92	-0.766	0.867	1.878	0.028	.	0.0020	0.00459265	0.0012	0.0055	0.0008	0.0029	0	0.0001	0	0.0031	0.0011772	182	154602	rs112671344	0.0007	0.0007	0.0007	0.0007	0.0099	0.0007	0.0007	0.0091	0.0088	0.0069	0.0008	0	0.0099	0	0.0017	9.646e-05	0.0018	0.0019	0.0021	0.0021	0.0020	0.0021	0.0059	0.0019	0.0018	0.0053	0.0051	0.0059	0	0.0012	0	0.0058	0	0	0.0002	0.0005	0.0017	0.849	0.02746	T	0.611	0.10034	T	0.004	0.12183	B	0.01	0.14941	B	0.162229	0.17628	N	0.607193	0.999821	0.49512	D	1.54	0.38927	L	3.66	0.04309	T	-0.7	0.20358	N	0.059	0.05670	-0.9322	0.43814	T	0.009	0.03011	T	10	0.0043433905	0.00088	T	.	.	.	0.028	0.06331	.	.	0.17948927462	0.17512	0.23245759561098403	0.23160	0.101957349095	0.11540	0.268547296524	0.05953	T	0.002366	0.01759	T	-0.627757	0.00099	T	-0.672864	0.07425	T	0.00346565276828435	0.00037	T	0.529047	0.17505	T	0.040246118	0.05709	0.037716255	0.03484	0.045715254	0.07531	0.03495696	0.02658	-5.438	0.41284	T	.	.	0.065	0.02797	B	.;.;.	.;.;.	0.823581	0.11949	8.509	0.40814496646116244	0.02904	0.77401	0.38052	D	AEFBI	0.190712	0.31793	N	-0.981523845359578	0.08998	0.4241044	-0.971455043555611	0.10429	0.525236	0.00744911828012615	0.11467	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.83	-2.92	0.05277	1.429000	0.34511	-0.914000	0.06944	0.665000	0.62972	0.998000	0.41325	0.000000	0.08366	0.862000	0.40904	0.1076:0.1825:0.2238:0.4862	1.878	0.03026	652	0.62785	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	374.98	33	chr6	99445817	.	T	C	374.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.668e+00;DP=701;ExcessHet=0.0000;FS=3.436;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=1.10;SOR=0.269	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,1018	20	0	1	0
chr6	99613969	99613969	A	G	exonic	PRDM13	.	nonsynonymous SNV	PRDM13:NM_021620:exon4:c.A1334G:p.K445R,	.	.	411	1110	1	0	0	1	0.000450248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.888	P	0.3	B	0.078	N	0.869	D	1.04	L	3.01	T	-0.985	T	0.011	T	0.169	2.486	14.27	3.74	1.562	4.303	11.582	0.099	0.0745984643382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.186	0.28860	T	0.888	0.48822	P	0.3	0.41053	B	0.078142	0.21061	N	0.336432	0.868513	0.35518	D	2.295	0.65404	M	3.0	0.09167	T	-0.96	0.25551	N	0.327	0.36779	-0.9847	0.33903	T	0.011	0.04321	T	10	0.33617517	0.50762	T	0.074598	0.72082	D	0.099	0.28413	0.38	0.39645	0.462549850287	0.45878	0.4616628722417341	0.46084	.	.	0.905850112438	0.97063	D	0.006501	0.05931	T	-0.178747	0.23922	T	-0.494534	0.22916	T	0.897018551826477	0.54885	D	0.579642	0.20943	T	0.13467757	0.31283	0.236193	0.48884	0.13467757	0.31282	0.236193	0.48883	-2.151	0.03809	T	.	.	0.118	0.24088	B	.	.	3.744260	0.53636	23.4	0.99464300763130586	0.65996	0.82134	0.41409	D	AEFDGBHCI	0.484789	0.52466	N	-0.128959247039852	0.36134	2.084647	-0.20318376228341	0.31421	1.778108	0.999999999999145	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.74	3.74	0.42108	7.067000	0.76435	5.275000	0.48164	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.036000	0.13842	1.0:0.0:0.0:0.0	11.582	0.50151	812	0.42537	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1088.98	33	chr6	99613969	.	A	G	1088.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.909;DP=940;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.55;ReadPosRankSum=0.332;SOR=0.715	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,102,1530	20	0	1	0
chr6	100589985	100589985	A	G	exonic	ASCC3	.	nonsynonymous SNV	ASCC3:NM_006828:exon35:c.T5378C:p.I1793T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.0	B	0.132	N	1.000	D	-1.15	N	1.05	T	-1.016	T	0.017	T	0.202	0.985	9.023	5.43	2.069	4.873	15.488	0.089	0.00426256107934	.	.	0.0002	0	0	0	0	0	0	0.0016	0.0002005	31	154602	rs547633655	0.0001	0.0001	9.123e-05	0.0002	0.0021	0.0001	0.0001	0.0018	0.0017	5.976e-05	0	0	0	0	0.0002	1.799e-06	0.0002	0.0021	9.201e-05	9.193e-05	6.424e-05	0.0001	0.0023	5.529e-05	4.366e-05	0.0013	0.0010	7.236e-05	0	0	0	0	0	0	0	0	0.0023	0.611	0.05452	T	0.571	0.08777	T	0.0	0.02946	B	0.0	0.01387	B	0.132168	0.18596	N	0.571867	0.996291	0.23058	N	-1.115	0.00953	N	1.05	0.39990	T	0.9	0.01618	N	0.323	0.36359	-1.0165	0.24852	T	0.017	0.07140	T	10	0.009432346	0.00213	T	0.004263	0.10310	T	0.089	0.25827	0.403	0.43408	0.290222751274	0.28632	0.5150498815787433	0.51427	0.312276279515	0.33530	0.306176245213	0.11329	T	0.004054	0.03463	T	-0.515114	0.00469	T	-0.519487	0.20346	T	0.0680952255649387	0.08381	T	0.931207	0.74412	D	0.0913715	0.21408	0.07980599	0.17998	0.0913715	0.21407	0.07980599	0.17997	-0.912	0.00907	T	.	.	0.058	0.00658	B	.	.	2.500042	0.32271	18.99	0.89517456783803051	0.18865	0.94842	0.62518	D	AEFBI	0.502701	0.53500	D	-0.383717818790109	0.26049	1.418685	-0.0923783943733529	0.35704	2.068812	0.923914541007013	0.26760	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.43	5.43	0.79006	4.889000	0.62862	8.038000	0.76302	0.677000	0.82338	0.946000	0.32893	1.000000	0.68203	0.967000	0.53440	1.0:0.0:0.0:0.0	15.488	0.75314	928	0.17405	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1240.98	33	chr6	100589985	.	A	G	1240.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.92;DP=829;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.19;ReadPosRankSum=-6.580e-01;SOR=0.653	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1196	20	0	1	0
chr6	100646715	100646715	T	C	exonic	ASCC3	.	nonsynonymous SNV	ASCC3:NM_006828:exon22:c.A3533G:p.Q1178R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.056	B	0.081	B	0.000	D	1.000	D	1.065	L	0.23	T	-1.023	T	0.091	T	0.782	2.958	15.86	5.53	2.095	7.996	15.659	0.219	0.0176439086055	.	.	3.303e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs750261074	2.805e-05	2.805e-05	1.361e-05	4.263e-05	0.0004	2.087e-05	1.878e-05	0.0003	0.0003	0	0	0	0	0	0	1.799e-06	4.967e-05	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.21550	T	0.318	0.19246	T	0.056	0.22806	B	0.081	0.28987	B	0.000000	0.84330	D	0.000000	0.999994	0.58761	D	0.69	0.16971	N	0.23	0.59717	T	-2.03	0.46673	N	0.693	0.69825	-1.0226	0.22866	T	0.091	0.34710	T	10	0.3500892	0.51888	T	0.017644	0.39418	T	0.219	0.51417	0.474	0.55020	0.319686207203	0.31575	0.8321157627309151	0.83170	0.371353621194	0.38636	0.700052261353	0.67151	T	0.018989	0.15211	T	-0.0936269	0.37477	T	-0.0295341	0.68399	D	0.198202770242361	0.20316	T	0.835117	0.50455	T	0.3935672	0.60284	0.3685095	0.62139	0.3935672	0.60285	0.3685095	0.62139	-9.091	0.68280	D	.	.	0.254	0.48877	B	.	.	3.522749	0.49391	22.8	0.99512571789519677	0.68739	0.98122	0.79786	D	AEFGBI	0.871638	0.79314	D	0.0719932654957536	0.45158	2.777203	0.265565902299237	0.53539	3.522413	0.999999896846628	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	7.966000	0.87508	6.178000	0.54590	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.659	0.76924	884	0.28482	Sec63 domain|Sec63 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	654.98	39	chr6	100646715	.	T	C	654.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.196e+00;DP=826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.78;ReadPosRankSum=-1.030e+00;SOR=0.641	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1477	20	0	1	0
chr6	104784991	104784991	G	A	exonic	HACE1	.	nonsynonymous SNV	HACE1:NM_001350555:exon9:c.C1112T:p.P371L	Spastic paraplegia and psychomotor retardation with or without seizures, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1340750	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.996	D	0.000	D	1.000	D	0.55	N	1.02	T	-0.904	T	0.116	T	0.751	3.865	19.64	3.93	1.140	9.152	13.169	0.280	0.0732665059902	0.0005	0.000399361	0.0001	0.0017	0	0	0	0	0	0	0.0001294	20	154602	rs146071296	3.298e-05	3.42e-05	3.691e-05	2.9e-05	0.0013	2.554e-05	2.259e-05	0.0010	0.0009	0.0013	0	0	0	0	0	0	9.969e-05	0	0.0004	0.0004	0.0004	0.0005	0.0015	0.0003	0.0003	0.0012	0.0011	0.0015	0	6.547e-05	0	0	0	0	1.471e-05	0	0	0.006	0.68238	D	0.021	0.70582	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.345	0.11182	N	1.02	0.51474	T	-2.73	0.58085	D	0.677	0.69737	-0.9036	0.47606	T	0.116	0.41031	T	10	0.14639428	0.27755	T	0.073267	0.71746	D	0.280	0.59740	.	.	0.830276587668	0.82866	0.8197178243429089	0.81928	1.47032503556	0.86526	0.817389011383	0.84628	D	0.487741	0.81368	T	-0.189622	0.22314	T	-0.0752344	0.65249	T	0.221033062596234	0.21515	T	0.972903	0.93000	D	0.30593622	0.53431	0.25397724	0.51055	0.30593622	0.53431	0.25397724	0.51054	-11.677	0.83242	D	0.15523499478624728	0.18594	0.374	0.76407	A	.;.	.;.	5.138342	0.86020	28.8	0.9981239166646757	0.89620	0.97538	0.75403	D	AEFDBHCIJ	0.886631	0.81818	D	0.478623548878277	0.65843	4.873769	0.481702095652551	0.66778	4.996603	0.999999999998474	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.548927	0.17530	0	.	.	4.8	3.93	0.44666	9.244000	0.94550	11.855000	0.98181	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0784:0.0:0.9216:0.0	13.169	0.59009	853	0.34956	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	509.98	33	chr6	104784991	.	G	A	509.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.600e-01;DP=754;ExcessHet=0.0000;FS=2.443;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.23;ReadPosRankSum=0.060;SOR=0.375	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1077	20	0	1	0
chr6	106088228	106088228	G	T	exonic	PRDM1	.	nonsynonymous SNV	PRDM1:NM_001198:exon2:c.G70T:p.V24L,	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.278	B	0.112	B	.	.	1.000	D	1.79	L	3.19	T	-1.026	T	0.015	T	0.582	2.586	14.61	5.93	2.826	3.055	15.111	0.106	0.00563889534336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.31383	T	0.249	0.23776	T	0.278	0.32022	B	0.112	0.31615	B	.	.	.	.	0.531622	0.81001	D	2.215	0.62545	M	3.19	0.07353	T	-0.15	0.09297	N	0.306	0.34552	-1.0255	0.21919	T	0.015	0.05897	T	9	0.17728627	0.32755	T	0.005639	0.14591	T	0.106	0.30130	0.202	0.11659	0.798828834975	0.79695	0.23543929999297952	0.23458	0.403895571161	0.41309	0.481083214283	0.36206	T	0.192053	0.54709	T	-0.124137	0.32447	T	-0.416091	0.31524	T	0.494016289710999	0.32411	T	0.763624	0.39028	T	0.09877248	0.23301	0.13141756	0.31556	0.09877248	0.23300	0.13141756	0.31555	-2.91	0.09243	T	.	.	0.307	0.55562	B	.;.	.;.	2.763392	0.36256	20.2	0.99606259711812573	0.74516	0.69130	0.34067	D	ALL	0.332485	0.43188	N	0.13220278443781	0.47970	3.015405	0.267706033950582	0.53664	3.534198	0.999999999907789	0.74766	0.495158	0.18159	0	0.516746	0.08562	0	0.535252	0.11790	0	0.618803	0.45993	0	.	.	5.93	5.93	0.95888	2.968000	0.48916	7.625000	0.62478	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.523000	0.29544	0.0:0.0:0.8586:0.1414	15.111	0.72029	896	0.25515	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1433.98	34	chr6	106088228	.	G	T	1433.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.451e+00;DP=782;ExcessHet=0.0000;FS=4.332;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.87;ReadPosRankSum=-2.680e-01;SOR=0.357	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1164	20	0	1	0
chr6	106511580	106511580	G	T	exonic	CRYBG1	.	nonsynonymous SNV	CRYBG1:NM_001371242:exon3:c.G463T:p.V155L,	.	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	.	.	.	.	.	.	.	.	-0.990	T	0.103	T	.	-0.311	2.521	0.235	0.308	0.090	.	0.016	.	.	0.00938498	0.0013	0.0273	0.0056	0	.	0	0	0	0.0005821	90	154602	rs112755587	0.0008	0.0008	0.0009	0.0007	0.0301	0.0008	0.0007	0.0285	0.0279	0.0301	0.0010	0	0	0	0.0009	8.343e-06	0.0018	3.787e-05	0.0081	0.0081	0.0084	0.0078	0.0287	0.0077	0.0076	0.0273	0.0268	0.0287	0	0.0021	0	0	0	0	4.41e-05	0.0028	0	.	.	.	0.241	0.24334	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.06454	-0.9903	0.32525	T	0.103	0.38044	T	3	0.0024419725	0.00036	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.458254	0.13193	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.29724	B	.	.	1.038305	0.14185	10.76	0.73591413204992573	0.10384	0.08608	0.14514	N	AEFDGBHCI	.	.	.	-0.66846403641082	0.16925	0.8665419	-0.906799797476888	0.11934	0.6109824	0.999998502416392	0.74766	0.206829	0.04106	0	0.073863	0.01883	0	0.209056	0.04548	0	0.155393	0.04056	0	0.154594	0.27689	0.235	0.235	0.14697	0.169000	0.16457	0.030000	0.13718	0.373000	0.20310	0.000000	0.06391	0.001000	0.17328	0.433000	0.27516	.	.	.	879	0.29470	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1874.98	35	chr6	106511580	.	G	T	1874.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.879e+00;DP=923;ExcessHet=0.0000;FS=1.428;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.76;ReadPosRankSum=1.18;SOR=0.892	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1197	20	0	1	0
chr6	106512178	106512178	C	T	exonic	CRYBG1	.	nonsynonymous SNV	CRYBG1:NM_001371242:exon3:c.C1061T:p.T354M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	.	.	.	.	.	.	1.000	N	.	.	.	.	-0.981	T	0.028	T	.	0.121	4.650	-2.79	-1.036	0.022	1.985	0.045	.	.	.	0.0002	0	0	0	.	0.0003	0	0.0001	1.94e-05	3	154602	rs114293299	1.736e-05	1.71e-05	1.428e-05	2.052e-05	0.0004	1.174e-05	9.87e-06	6.179e-05	2.554e-05	0	0	0	0	0	0.0004	1.484e-05	3.458e-05	5.055e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	0.999922	0.19486	N	.	.	.	.	.	.	.	.	.	0.089	0.06720	-0.9805	0.34886	T	0.028	0.11838	T	5	0.07218352	0.10742	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.50155	0.15709	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.18206	B	.	.	0.322083	0.06964	3.515	0.88338831224822278	0.17899	0.01487	0.04941	N	AEFDGBCIJ	.	.	.	-0.980944665799619	0.09011	0.4247465	-1.21863876839816	0.05611	0.2678173	0.999999990114403	0.74766	0.162408	0.03677	1	0.073863	0.01883	0	0.132232	0.03703	1	0.088244	0.02422	0	0.141386	0.26767	2.41	-2.79	0.05494	0.008000	0.13095	-0.130000	0.11629	-0.320000	0.05874	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1331:0.3838:0.3067:0.1764	1.985	0.03226	869	0.31655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	917.98	34	chr6	106512178	.	C	T	917.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.433;DP=947;ExcessHet=0.0000;FS=0.977;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.91;ReadPosRankSum=0.756;SOR=0.486	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	20	0	1	0
chr6	106519232	106519232	G	A	exonic	CRYBG1	.	nonsynonymous SNV	CRYBG1:NM_001624:exon2:c.G800A:p.G267D	.	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.997	D	0.861	P	0.001	D	1.000	D	1.905	M	-0.83	T	-0.226	T	0.362	T	0.583	3.753	19.05	5.59	2.635	2.451	6.562	0.322	.	0.0026	0.00838658	0.0028	0.0095	0.0012	0.0001	0	9e-05	0	0.0136	0.0026972	417	154602	rs11968933	0.0011	0.0011	0.0008	0.0014	0.0117	0.0011	0.0010	0.0111	0.0109	0.0097	0.0008	0	5.038e-05	0	0.0028	0.0001	0.0019	0.0117	0.0032	0.0032	0.0032	0.0033	0.0139	0.0030	0.0029	0.0112	0.0103	0.0094	0	0.0011	0	0	0	0.0034	0.0002	0.0014	0.0139	0.006	0.61437	D	0.367	0.24054	T	0.997	0.70673	D	0.861	0.61279	P	0.000772	0.41888	D	0.000000	0.505011	0.31694	N	.	.	.	-0.83	0.74159	T	-2.14	0.48523	N	0.803	0.79889	-0.2262	0.76987	T	0.362	0.72361	T	10	0.008334041	0.00189	T	.	.	.	0.322	0.64420	.	.	0.844563224946	0.84307	0.09172690507320228	0.09105	0.518823542368	0.49721	0.542679309845	0.44824	T	0.052249	0.29108	T	-0.267171	0.12074	T	-0.145518	0.59638	T	0.0318099328002579	0.02276	T	0.849215	0.53152	T	0.1344912	0.31245	0.21144678	0.45574	0.1344912	0.31245	0.21144678	0.45573	-7.822	0.59851	D	.	.	0.915	0.83787	P	.;.	.;.	4.617764	0.73299	26.0	0.99820860853258508	0.90414	0.80627	0.40216	D	AEFDGBCI	0.209821	0.33576	N	0.612847914379645	0.73986	6.056602	0.613948193139237	0.75953	6.402446	0.999999996146111	0.74766	0.706298	0.61202	0	0.52208	0.09955	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.59	5.59	0.84677	2.531000	0.45309	11.889000	0.99041	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0723:0.1301:0.6628:0.1348	6.562	0.21687	865	0.32612	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	910.98	33	chr6	106519232	.	G	A	910.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.738e+00;DP=797;ExcessHet=0.0000;FS=0.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.11;ReadPosRankSum=-4.780e-01;SOR=0.793	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	20	0	1	0
chr6	106519808	106519808	A	G	exonic	CRYBG1	.	nonsynonymous SNV	CRYBG1:NM_001624:exon2:c.A1376G:p.E459G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.058	B	0.028	B	0.107	N	1.000	D	1.905	M	-0.78	T	-0.814	T	0.187	T	0.169	2.694	14.97	3.8	0.567	1.196	8.032	0.144	0.0212202703183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	1.368e-06	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	0	6.567e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.041	0.41915	D	0.024	0.56640	D	0.058	0.22967	B	0.028	0.21332	B	0.107070	0.19586	N	0.380172	0.557233	0.32183	D	.	.	.	-0.78	0.73631	T	-2.54	0.55025	D	0.097	0.10911	-0.8137	0.54325	T	0.187	0.53661	T	10	0.1305852	0.24851	T	0.02122	0.43954	T	0.144	0.38394	0.179	0.08626	0.592657251108	0.58943	0.20336707025620981	0.20253	0.104194873104	0.11789	0.325799465179	0.14299	T	0.081868	0.36696	T	-0.118302	0.33402	T	-0.407709	0.32489	T	0.300546569306755	0.25027	T	0.618838	0.23746	T	0.092914574	0.21811	0.09735285	0.23168	0.092914574	0.21811	0.09735285	0.23168	-3.752	0.20089	T	.	.	0.097	0.15966	B	.;.	.;.	2.477978	0.31950	18.90	0.99576274927560871	0.72742	0.38129	0.25918	N	ALL	0.125869	0.24257	N	-0.484201288877734	0.22598	1.207777	-0.403719046959895	0.24887	1.365423	1.0	0.98316	0.562547	0.31514	0	0.093493	0.02558	3	0.608524	0.38960	0	0.635551	0.53088	0	.	.	6.17	3.8	0.42887	1.200000	0.31854	5.432000	0.48595	-0.050000	0.17177	0.822000	0.30018	1.000000	0.68203	0.001000	0.02609	0.8418:0.0:0.1582:0.0	8.032	0.29632	863	0.32847	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	236.14	145	chr6	106519808	.	A	G	236.14	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.710e+00;DP=1384;ExcessHet=0.1072;FS=130.644;InbreedingCoeff=-0.0513;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.74;ReadPosRankSum=0.890;SOR=9.308	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	19	0	2	0
chr6	106521329	106521329	A	G	exonic	CRYBG1	.	nonsynonymous SNV	CRYBG1:NM_001624:exon2:c.A2897G:p.E966G	.	.	432	1084	6	0	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.878	P	0.502	N	1.000	D	2.24	M	-0.8	T	-0.435	T	0.494	T	0.668	3.833	19.46	5.9	2.250	1.687	12.707	0.323	.	7.7e-05	0.00479233	0.0036	0.0003	0.0003	0	0	4.501e-05	0.0022	0.0255	0.0030207	467	154602	rs201797268	0.0014	0.0014	0.0008	0.0021	0.0229	0.0014	0.0014	0.0220	0.0217	0.0002	6.711e-05	0	5.038e-05	0	0.0017	2.608e-05	0.0015	0.0229	0.0008	0.0008	0.0004	0.0012	0.0232	0.0007	0.0006	0.0197	0.0184	0.0002	0	0	0	0	0	0	4.411e-05	0	0.0232	0.034	0.44029	D	0.045	0.49390	D	0.998	0.73220	D	0.878	0.62312	P	0.501860	0.05096	N	1.239110	0.659091	0.30465	N	.	.	.	-0.8	0.73845	T	-1.62	0.38924	N	0.225	0.25253	-0.4352	0.70890	T	0.494	0.80830	T	10	0.0041195154	0.00081	T	.	.	.	0.323	0.64522	.	.	0.876007074002	0.87480	0.38657576976020197	0.38572	0.101216265927	0.11446	0.394491821527	0.24300	T	0.017161	0.14051	T	-0.253455	0.13678	T	-0.118593	0.61918	T	0.020368446620459	0.00737	T	0.570043	0.20293	T	0.07832549	0.17829	0.07597949	0.16782	0.07832549	0.17828	0.07597949	0.16782	-3.917	0.22557	T	.	.	0.097	0.15609	B	.;.	.;.	2.192876	0.27962	17.64	0.99762023113990628	0.85172	0.44345	0.27298	N	ALL	0.103433	0.20723	N	0.317689826139538	0.57057	3.871678	0.205870227503103	0.50173	3.212148	0.999999999999261	0.74766	0.615465	0.37627	0	0.52208	0.09955	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.9	5.9	0.94952	1.726000	0.37706	4.663000	0.44246	-0.041000	0.17446	0.772000	0.29380	0.999000	0.35428	0.187000	0.21511	1.0:0.0:0.0:0.0	12.707	0.56435	863	0.32847	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1737.98	37	chr6	106521329	.	A	G	1737.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.050e-01;DP=931;ExcessHet=0.0000;FS=2.744;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.73;ReadPosRankSum=-1.550e+00;SOR=0.827	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr6	106527318	106527318	G	A	exonic	CRYBG1	.	nonsynonymous SNV	CRYBG1:NM_001624:exon5:c.G3202A:p.E1068K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.83	H	-1.26	T	0.715	D	0.738	D	0.923	4.530	24.4	5.29	2.630	6.185	19.297	0.863	0.192094863554	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.798e-06	4.788e-06	2.728e-06	6.89e-06	3.496e-05	2e-06	1.28e-06	9.29e-06	4.58e-06	0	0	0	0	0	0	3.602e-06	0	3.496e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000004	0.62929	D	0.113477	0.999999	0.58761	D	.	.	.	-1.26	0.79176	T	-3.61	0.69477	D	0.773	0.78546	0.715	0.93360	D	0.738	0.91055	D	10	0.91192514	0.90557	D	0.192095	0.86223	D	0.863	0.95839	0.724	0.85850	0.926225739567	0.92547	0.8777903179877831	0.87746	0.48306885369	0.47264	0.624733269215	0.56398	T	0.50359	0.82302	D	0.402716	0.90071	D	0.340697	0.89946	D	0.999738276004791	0.98729	D	0.958704	0.84427	D	0.9087842	0.92181	0.81521153	0.89232	0.9087842	0.92182	0.81521153	0.89233	-11.503	0.82346	D	.	.	0.288	0.52035	B	.;.	.;.	5.342661	0.89640	31	0.99892785866086931	0.96666	0.91636	0.53943	D	AEFDBHCIJ	0.750954	0.69191	D	0.976916565364794	0.94989	13.212	0.884677580693374	0.94868	13.11143	0.999999999685978	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.658983	0.55881	0	0.678554	0.66404	0	.	.	5.29	5.29	0.74430	6.307000	0.72783	11.768000	0.95790	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	19.297	0.94112	850	0.35610	Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin;Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	706.98	33	chr6	106527318	.	G	A	706.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.584;DP=776;ExcessHet=0.0000;FS=6.543;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.30;ReadPosRankSum=-1.327e+00;SOR=1.462	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1231	20	0	1	0
chr6	106539406	106539406	G	A	exonic	CRYBG1	.	stopgain	CRYBG1:NM_001624:exon7:c.G3498A:p.W1166X	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	12.927	46	5.81	2.738	8.825	20.080	.	.	.	0.000199681	3.299e-05	0	0.0003	0	0	1.5e-05	0	0	4.53e-05	7	154602	rs559044700	4.79e-05	4.788e-05	4.221e-05	5.364e-05	0.0002	3.861e-05	3.541e-05	4.365e-05	3.826e-05	2.99e-05	0.0001	0	0	0	0.0002	5.307e-05	3.313e-05	2.32e-05	0.0001	0.0001	0.0002	9.403e-05	0.0009	8.663e-05	7.255e-05	0.0005	0.0004	2.408e-05	0	0.0009	0	0	0	0	8.82e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000001	0.62929	D	0.105878	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.934	0.93959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.447187	0.92355	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	11.095797	0.99901	51	0.99620962391459345	0.75413	0.98395	0.82339	D	AEFBHCI	0.295657	0.40571	N	1.00282049696958	0.95830	14.01051	0.892058723161037	0.95217	13.41667	0.999999999999999	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.81	5.81	0.92413	8.988000	0.93066	11.709000	0.94623	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:0.0:1.0:0.0	20.080	0.97771	786	0.46839	Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin;Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1945.08	35	chr6	106539406	.	G	A	1945.08	.	AC=2;AF=0.048;AN=42;DP=1231;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.60;SOR=1.022	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1173	20	1	0	0
chr6	106555849	106555849	G	A	exonic	CRYBG1	.	nonsynonymous SNV	CRYBG1:NM_001624:exon15:c.G4443A:p.M1481I	.	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.987	D	0.953	D	0.000	D	1.000	D	2.525	M	-0.97	T	-0.053	T	0.540	D	0.922	4.862	27.8	5.35	2.665	6.171	19.428	0.736	0.0941362744861	7.7e-05	0.000199681	0.0003	9.61e-05	0.0002	0	0	1.498e-05	0	0.0018	0.0002264	35	154602	rs374909027	0.0001	0.0001	6.67e-05	0.0002	0.0017	0.0001	0.0001	0.0014	0.0014	2.987e-05	8.944e-05	0	0	0	0.0003	1.889e-05	0.0002	0.0017	8.535e-05	8.53e-05	3.854e-05	0.0001	0.0021	4.953e-05	3.96e-05	0.0011	0.0009	2.405e-05	0	0	0	0	0	0	1.47e-05	0.0005	0.0021	0.004	0.65419	D	0.0	0.92824	D	0.987	0.61912	D	0.953	0.69275	D	0.000000	0.84330	D	0.034664	1	0.81001	D	.	.	.	-0.97	0.75670	T	-3.62	0.69593	D	0.756	0.84713	-0.0534	0.81134	T	0.540	0.83056	D	10	0.087102264	0.14870	T	0.094136	0.76198	D	0.736	0.90808	0.824	0.93592	0.898140056634	0.89712	0.5861213917238782	0.58542	0.478301125626	0.46915	0.546212255955	0.45322	T	0.407476	0.76308	T	0.0474211	0.58011	T	0.288077	0.87551	D	0.155494347006623	0.17532	T	0.860614	0.55382	D	0.78316563	0.82848	0.74334973	0.84829	0.78316563	0.82850	0.74334973	0.84830	-9.583	0.71375	D	.	.	0.618	0.70515	P	.;.;.	.;.;.	4.089163	0.60890	24.3	0.99707613183118571	0.81074	0.94540	0.61497	D	AEFBCIJ	0.665104	0.63404	D	0.779407125538222	0.84802	8.390551	0.754863333210179	0.86519	8.915599	0.999999999701195	0.74766	0.732398	0.92422	0	0.697927	0.68747	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.35	5.35	0.76297	6.278000	0.72640	11.836000	0.97677	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.428	0.94741	719	0.55657	Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin;Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin;Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2617.98	33	chr6	106555849	.	G	A	2617.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.250;DP=917;ExcessHet=0.0000;FS=2.383;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.47;ReadPosRankSum=1.64;SOR=0.541	GT:AD:DP:GQ:PL	0/1:103,107:210:99:2632,0,2498	20	0	1	0
chr6	108074290	108074290	T	A	exonic	OSTM1	.	nonsynonymous SNV	OSTM1:NM_014028:exon1:c.A362T:p.Q121L,	Osteopetrosis, autosomal recessive 5, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.553	P	0.146	B	0.014	N	0.947	D	1.78	L	0.76	T	-1.073	T	0.054	T	0.368	3.128	16.46	4.13	0.854	0.304	5.827	0.102	0.0202927546571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.191	0.28391	T	0.553	0.38185	P	0.146	0.33945	B	0.014163	0.28613	N	0.398783	0.946948	0.37548	D	1.845	0.48678	L	0.76	0.49919	T	-2.97	0.61865	D	0.203	0.22486	-1.0731	0.08745	T	0.054	0.23034	T	10	0.24155071	0.41335	T	0.020293	0.42854	T	0.102	0.29158	0.405	0.43738	0.579527763308	0.57622	0.5315954902946844	0.53084	0.421405394544	0.42649	0.559610366821	0.47213	T	0.55944	0.85226	D	-0.109243	0.34894	T	-0.394697	0.34001	T	0.79934549331665	0.46308	D	0.454355	0.12956	T	0.20721936	0.42921	0.11383692	0.27476	0.20721936	0.42921	0.11383692	0.27475	-6.576	0.50869	T	0.18667174935884265	0.24307	0.123	0.25753	B	.	.	3.095513	0.41698	21.4	0.98563991476121182	0.43012	0.46737	0.27826	N	ALL	0.186450	0.31376	N	-0.229266177730586	0.31938	1.795942	-0.165849038951032	0.32802	1.869875	0.999999975772474	0.74766	0.72623	0.87236	0	0.218748	0.04544	0	0.594344	0.31042	0	0.638787	0.57140	0	.	.	5.3	4.13	0.47661	0.316000	0.19217	3.357000	0.37830	-0.111000	0.15049	0.349000	0.25751	1.000000	0.68203	0.931000	0.46843	0.1492:0.0807:0.0:0.7701	5.827	0.17816	854	0.34840	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1596.98	36	chr6	108074290	.	T	A	1596.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.570e-01;DP=828;ExcessHet=0.0000;FS=3.167;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=-1.840e-01;SOR=0.741	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1187	20	0	1	0
chr6	108561444	108561444	-	CGG	exonic	FOXO3	.	nonframeshift insertion	FOXO3:NM_001455:exon1:c.236_237insCGG:p.G84_S85insG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0019	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs754063465	7.53e-05	7.525e-05	6.716e-05	8.366e-05	0.0010	6.329e-05	5.914e-05	0.0007	0.0006	0.0010	8.723e-05	0	0.0001	2.24e-05	0	1.21e-05	0.0001	0.0006	0.0003	0.0003	0.0004	0.0003	0.0010	0.0003	0.0002	0.0008	0.0007	0.0010	0	0.0001	0	0	0	0	1.506e-05	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	454.94	41	chr6	108561444	.	T	TCGG	454.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.700e-01;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=52.17;MQRankSum=-9.800e-02;QD=13.00;ReadPosRankSum=-1.161e+00;SOR=0.892	GT:AD:DP:GQ:PL	0/0:31,0:31:92:0,92,1018	20	0	1	0
chr6	108663973	108663973	-	G	exonic	FOXO3	.	frameshift insertion	FOXO3:NM_001455:exon2:c.1141dupG:p.L382Afs*3	.	.	430	963	128	1	0	130	0.0632296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs34133353	0.0013	0.0068	0.0008	0.0019	0.0014	0.0013	0.0013	0.0014	0.0014	0.0012	0.0010	0.0027	0.0009	0.0009	0.0011	0.0014	0.0012	0.0006	1.319e-05	0.0003	2.581e-05	0	4.865e-05	2.19e-06	8.2e-07	8.06e-06	3.02e-06	4.865e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	52.94	134	chr6	108663973	.	T	TG	52.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.070e+00;DP=844;ExcessHet=0.0000;FS=2.448;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.88;MQRankSum=-1.058e+01;QD=0.40;ReadPosRankSum=3.98;SOR=0.372	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1283	20	0	1	0
chr6	108664377	108664377	C	T	exonic	FOXO3	.	nonsynonymous SNV	FOXO3:NM_001455:exon2:c.C1544T:p.P515L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	1.0	D	0.997	D	0.000	D	1.000	D	2.16	M	-4.11	D	0.854	D	0.909	D	0.952	2.190	13.28	5.59	2.648	5.666	19.612	0.554	0.0807888065962	7.7e-05	.	0.0001	0	8.715e-05	0	0	9.068e-05	0	0.0004	3.84e-05	1	26028	rs368031979	6.226e-05	6.225e-05	5.446e-05	7.014e-05	0.0002	5.162e-05	4.781e-05	9.792e-05	7.839e-05	5.975e-05	4.473e-05	0	0	0	0	6.206e-05	6.625e-05	0.0002	3.948e-05	3.938e-05	1.287e-05	6.732e-05	8.828e-05	1.717e-05	1.131e-05	3.765e-05	2.577e-05	0	0	0	0	0	0	0	8.828e-05	0	0	0.205	0.22053	T	0.168	0.34716	T	1.0	0.90584	D	0.997	0.86255	D	0.000132	0.49741	D	0.210033	1	0.81001	D	2.74	0.80084	M	-4.11	0.96687	D	-2.22	0.49846	N	0.925	0.92901	0.854	0.95077	D	0.909	0.96969	D	10	0.7627033	0.76468	D	0.080789	0.73539	D	0.554	0.81601	.	.	0.975090296176	0.97481	0.6463950062042642	0.64574	.	.	0.651193261147	0.60155	T	0.752435	0.93227	D	0.299124	0.82898	D	0.492219	0.94458	D	0.19757542014122	0.20281	T	0.931507	0.74506	D	0.057850037	0.11566	0.108533435	0.26145	0.057850037	0.11566	0.108533435	0.26145	-4.204	0.26809	T	.	.	0.514	0.72840	A	.;.;.	.;.;.	4.248790	0.64477	24.7	0.96067676335891439	0.28614	0.96946	0.71809	D	AEFDGBI	0.757825	0.69666	D	0.632370648744041	0.75231	6.269841	0.628483754957236	0.77016	6.599077	0.999999999999943	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.59	5.59	0.84677	7.568000	0.81546	7.721000	0.67307	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.836000	0.39433	0.0:1.0:0.0:0.0	19.612	0.95605	618	0.66225	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1429.08	44	chr6	108664377	.	C	T	1429.08	.	AC=2;AF=0.048;AN=42;DP=765;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=42.42;QD=26.96;SOR=0.892	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1283	20	1	0	0
chr6	109382248	109382248	G	A	exonic	CD164	.	nonsynonymous SNV	CD164:NM_001142401:exon1:c.C131T:p.S44L	.	.	414	1106	1	1	0	3	0.0013544	.	.	1306425	not_provided|CD164-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.486	P	0.058	B	0.010	N	0.999	N	1.1	L	0.65	T	-1.032	T	0.048	T	0.126	2.546	14.47	3.15	1.021	0.219	9.162	0.066	.	0.0014	0.00279553	0.0011	0.0104	0.0005	0	0	0	0.0031	0	0.0005304	82	154602	rs113902228	0.0002	0.0002	0.0002	0.0001	0.0059	0.0002	0.0002	0.0052	0.0049	0.0059	0.0005	0	0	0	0.0005	6.352e-06	0.0005	3.629e-05	0.0019	0.0019	0.0019	0.0020	0.0065	0.0017	0.0017	0.0059	0.0056	0.0065	0	0.0012	0	0	0	0	1.47e-05	0.0019	0	0.083	0.47745	T	0.187	0.47336	T	0.249	0.36871	B	0.024	0.26451	B	0.009741	0.01252	N	2.883680	1	0.08975	N	1.355	0.33814	L	0.65	0.52642	T	-1.5	0.59710	N	0.142	0.14196	-1.0322	0.19745	T	0.048	0.20395	T	10	0.0042085946	0.00084	T	.	.	.	0.066	0.19193	.	.	0.580477355671	0.57718	0.31815251216856805	0.31728	0.282164039068	0.30679	0.211239099503	0.00865	T	0.029927	0.21330	T	-0.539778	0.00336	T	-0.544265	0.17880	T	0.0554150197244622	0.06426	T	0.819018	0.48339	T	0.07032395	0.15481	0.09693921	0.23053	0.07032395	0.15481	0.09693921	0.23052	-3.867	0.27484	T	.	.	0.092	0.17530	B	.;.;.;.;.	.;.;.;.;.	1.930039	0.24512	16.42	0.98712687926614939	0.45083	0.40304	0.26407	N	ALL	0.084374	0.17100	N	-0.698704760411017	0.16058	0.8148434	-0.759307433624444	0.15494	0.8151332	0.9999999999945	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.04	3.15	0.35301	0.228000	0.17594	3.419000	0.38239	0.590000	0.31872	0.000000	0.06391	0.484000	0.25117	0.007000	0.07825	0.0:0.0:0.7829:0.2171	9.162	0.36194	563	0.71062	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1005.98	39	chr6	109382248	.	G	A	1005.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.390e-01;DP=858;ExcessHet=0.0000;FS=4.491;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=-1.050e+00;SOR=0.577	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr6	109450512	109450512	G	T	exonic	MICAL1	.	nonsynonymous SNV	MICAL1:NM_001286613:exon8:c.C1036A:p.P346T	.	.	.	.	.	.	.	.	.	.	.	735328	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.15	T	0.948	P	0.569	P	0.115	N	1.000	D	0.345	N	2.87	T	-0.929	T	0.015	T	0.552	1.286	10.21	4.63	2.566	1.615	15.373	0.129	.	0.0048	0.00519169	0.0015	0.0165	0.0011	0	0	3.173e-05	0	0	0.0013713	212	154602	rs116818040	0.0005	0.0005	0.0005	0.0004	0.0158	0.0004	0.0004	0.0147	0.0143	0.0158	0.0010	0	0	0	0.0005	1.079e-05	0.0012	3.479e-05	0.0044	0.0044	0.0047	0.0041	0.0151	0.0041	0.0040	0.0141	0.0137	0.0151	0	0.0027	0	0	0	0	1.47e-05	0.0024	0	0.222	0.18823	T	0.108	0.37589	T	0.948	0.53620	P	0.569	0.49832	P	0.114936	0.19255	N	0.524486	0.757769	0.81001	D	0.695	0.17993	N	2.87	0.10386	T	-1.78	0.42001	N	0.502	0.53445	-0.9291	0.44270	T	0.015	0.05849	T	10	0.004850447	0.00103	T	.	.	.	0.129	0.35316	.	.	0.314716216878	0.31082	0.38497762743970054	0.38412	0.0964559620353	0.10890	0.486868023872	0.37005	T	0.024964	0.18762	T	-0.4803	0.00736	T	-0.449721	0.27728	T	0.0126010356665443	0.00210	T	0.922508	0.71813	D	0.093342945	0.21922	0.10875615	0.26201	0.09342486	0.21942	0.10533486	0.25318	-10.878	0.78984	D	.	.	0.097	0.16800	B	.;.	.;.	1.892858	0.24040	16.25	0.93492279824521973	0.23294	0.77742	0.38260	D	AEFDBCI	0.395709	0.47246	N	-0.100373709971731	0.37376	2.17364	-0.0181541544711736	0.38895	2.298165	0.99998321577433	0.51787	0.706298	0.61202	0	0.696144	0.67643	0	0.606735	0.37207	0	0.613276	0.41899	0	.	.	4.63	4.63	0.57175	0.787000	0.26519	6.489000	0.55755	0.676000	0.76740	0.091000	0.22601	1.000000	0.68203	0.584000	0.30992	0.0:0.0:1.0:0.0	15.373	0.74301	555	0.71762	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1912.98	34	chr6	109450512	.	G	T	1912.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.080e-01;DP=887;ExcessHet=0.0000;FS=2.038;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=0.358;SOR=0.546	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1311	20	0	1	0
chr6	109466273	109466273	C	T	exonic	ZBTB24	.	nonsynonymous SNV	ZBTB24:NM_014797:exon7:c.G1672A:p.D558N,	Immunodeficiency-centromeric instability-facial anomalies syndrome-2, Autosomal recessive	.	0	1510	12	0	0	12	0.00395778	.	.	521280	ZBTB24-related_disorder|Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_2|not_provided	.|MONDO:MONDO:0013553,MedGen:C3279748,OMIM:614069,Orphanet:2268|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.033	B	0.012	B	0.000	N	0.974	D	0.805	L	2.87	T	-1.003	T	0.011	T	0.013	3.270	16.98	5.17	1.509	3.643	14.532	0.099	0.00443151318148	0.0023	0.00139776	0.0025	0.0007	0.0030	0	0.0015	0.0037	0.0022	0.0005	0.0024191	374	154602	rs61731736	0.0027	0.0027	0.0028	0.0027	0.0061	0.0027	0.0026	0.0045	0.0039	0.0005	0.0026	0.0116	0	0.0013	0.0061	0.0029	0.0033	0.0005	0.0024	0.0024	0.0027	0.0021	0.0032	0.0022	0.0021	0.0028	0.0027	0.0006	0	0.0024	0.0107	0	0.0022	0.0170	0.0032	0.0061	0.0006	0.163	0.23450	T	0.269	0.22426	T	0.033	0.20350	B	0.012	0.16012	B	0.000004	0.62929	N	0.102760	0.974	0.39077	D	0.28	0.10031	N	2.87	0.10386	T	-1.01	0.26639	N	0.099	0.08088	-1.0026	0.29168	T	0.011	0.03949	T	10	0.005057752	0.00109	T	0.004432	0.10844	T	0.099	0.28413	.	.	0.167679373172	0.16340	0.4776154451295473	0.47681	0.168406635344	0.18989	0.437026292086	0.30171	T	0.012333	0.10860	T	-0.687007	0.00044	T	-0.762036	0.03040	T	0.0142797081524767	0.00284	T	0.822018	0.48145	T	0.053179946	0.10025	0.06708764	0.13832	0.065692656	0.14063	0.07455808	0.16323	-4.855	0.35225	T	.	.	0.163	0.35992	B	.	.	3.074357	0.41339	21.3	0.99801893830854504	0.88639	0.92542	0.55956	D	AEFDBCI	0.385491	0.46621	N	-0.174969276786347	0.34179	1.947773	0.00327527721614282	0.39867	2.370386	0.999999999947417	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.06	5.17	0.70848	3.705000	0.54553	4.033000	0.41356	0.599000	0.40250	0.990000	0.36992	0.999000	0.35428	0.966000	0.53164	0.0:0.9277:0.0:0.0723	14.532	0.67521	555	0.71762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2108.98	43	chr6	109466273	.	C	T	2108.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.856;DP=1021;ExcessHet=0.0000;FS=4.171;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=-7.090e-01;SOR=0.651	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr6	109481881	109481881	C	T	exonic	ZBTB24	.	nonsynonymous SNV	ZBTB24:NM_001164313:exon2:c.G146A:p.R49Q	Immunodeficiency-centromeric instability-facial anomalies syndrome-2, Autosomal recessive	.	1	1498	23	0	0	23	0.00761842	.	.	246995	not_specified|Kabuki_syndrome_1|Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_2|not_provided	MedGen:CN169374|MONDO:MONDO:0007843,MedGen:CN030661,OMIM:147920,Orphanet:2322|MONDO:MONDO:0013553,MedGen:C3279748,OMIM:614069,Orphanet:2268|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.999	D	0.977	D	0.000	D	0.771	D	1.035	L	-0.34	T	-0.586	T	0.255	T	0.33	4.304	22.5	4.67	1.313	5.597	15.440	0.273	.	0.0063	0.00439297	0.0066	0.0016	0.0072	0	0.0035	0.0096	0.0055	0.0024	0.0067722	1047	154602	rs147441359	0.0074	0.0074	0.0076	0.0073	0.0097	0.0073	0.0073	0.0082	0.0081	0.0017	0.0078	0.0147	2.519e-05	0.0027	0.0097	0.0083	0.0080	0.0020	0.0061	0.0061	0.0066	0.0055	0.0111	0.0058	0.0056	0.0098	0.0092	0.0017	0.0044	0.0111	0.0127	0.0002	0.0024	0.0136	0.0086	0.0066	0.0021	0.054	0.38633	T	0.009	0.66756	D	0.999	0.77913	D	0.977	0.73820	D	0.000011	0.62929	D	0.108661	0.770652	0.34147	D	1.285	0.32305	L	-0.34	0.68474	T	-0.4	0.13805	N	0.682	0.68863	-0.5862	0.65372	T	0.255	0.62552	T	9	0.014561236	0.00306	T	.	.	.	0.273	0.58883	.	.	0.83713450273	0.83558	0.47293180614030045	0.47212	0.724818736464	0.62416	0.547889888287	0.45560	T	0.148743	0.48744	T	-0.353739	0.04496	T	-0.271503	0.47668	T	0.0111795497330327	0.00164	T	0.808619	0.45852	T	0.15783018	0.35541	0.11235077	0.27107	0.17776781	0.38760	0.11235077	0.27106	-8.917	0.67161	D	.	.	0.251	0.48582	B	.	.	5.526506	0.91831	32	0.99953791682224247	0.99963	0.92268	0.55322	D	AEFBI	0.410141	0.48114	N	0.485232659864742	0.66228	4.923011	0.496600949549412	0.67764	5.127945	0.999999238262081	0.74766	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.605231	0.38476	0	.	.	5.54	4.67	0.58089	5.646000	0.67590	6.029000	0.52897	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.8606:0.1394:0.0	15.440	0.74905	551	0.72115	BTB/POZ domain|BTB/POZ domain|BTB/POZ domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1857.98	34	chr6	109481881	.	C	T	1857.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.00;DP=844;ExcessHet=0.0000;FS=6.355;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.27;ReadPosRankSum=-1.495e+00;SOR=1.195	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1185	20	0	1	0
chr6	109573542	109573542	C	A	exonic	AK9	.	nonsynonymous SNV	AK9:NM_001145128:exon21:c.G2244T:p.L748F,	.	.	.	.	.	.	.	.	.	.	.	2387075	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.001	B	0.001	B	.	.	0.999	N	0.345	N	-0.12	T	-1.039	T	0.035	T	0.05	0.270	5.460	-2.84	-0.464	-0.457	3.206	0.019	0.02445058367	.	0.000199681	0.0003	0	0	0.0016	0	0.0002	0	0.0003	6.47e-05	10	154602	rs188116177	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0003	9.505e-05	0	0.0018	0.0006	0.0023	0	0.0001	0.0004	0.0003	0.0004	0.0004	0.0002	0.0006	0.0027	0.0003	0.0003	0.0016	0.0013	4.813e-05	0	0	0.0012	0.0027	0.0022	0	0.0002	0.0014	0.0002	0.705	0.04107	T	0.065	0.44702	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.21670	N	0.55	0.14455	N	-0.12	0.64630	T	-0.19	0.09965	N	0.1	0.08227	-1.0393	0.17526	T	0.035	0.15117	T	8	0.00617823	0.00139	T	0.024451	0.47438	T	0.019	0.03383	0.244	0.17830	0.0716867268079	0.06686	0.016941539727795673	0.01649	0.140397205574	0.15837	0.285009175539	0.08201	T	0.005546	0.05002	T	-0.545291	0.00311	T	-0.68479	0.06695	T	0.00233769544694837	0.00024	T	0.257774	0.04077	T	0.030868353	0.02826	0.043792445	0.05529	0.030868353	0.02826	0.043792445	0.05529	-4.543	0.31447	T	.	.	0.080	0.07841	B	.	.	-0.254717	0.02823	0.391	0.61817863557207786	0.06804	0.00167	0.00991	N	AEFI	0.026804	0.02075	N	-1.50415258766926	0.01822	0.0798861	-1.5418833942847	0.02032	0.09289512	3.21258526507821E-5	0.03775	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	4.32	-2.84	0.05408	-0.470000	0.06717	0.063000	0.14158	-0.975000	0.01921	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3036:0.4664:0.0902:0.1397	3.206	0.06271	683	0.59664	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	933.98	33	chr6	109573542	.	C	A	933.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.484;DP=818;ExcessHet=0.0000;FS=0.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.05;ReadPosRankSum=-3.000e-01;SOR=0.591	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1312	20	0	1	0
chr6	109619190	109619190	C	T	exonic	AK9	.	nonsynonymous SNV	AK9:NM_001145128:exon13:c.G1301A:p.R434H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998	D	0.71	P	0.037	N	0.994	D	1.04	L	1.59	T	-0.964	T	0.134	T	0.143	2.489	14.28	1.43	0.570	0.268	5.928	0.099	0.0271463335275	0.0002	.	0.0001	0.0014	0	0	0	0	0	0	2.59e-05	4	154602	rs375046428	3.076e-05	3.215e-05	2.964e-05	3.191e-05	0.0004	2.318e-05	2.06e-05	0.0002	0.0002	0.0002	2.819e-05	0	0.0004	0	0	1.762e-05	1.726e-05	2.533e-05	9.198e-05	9.188e-05	6.428e-05	0.0001	0.0006	5.527e-05	4.364e-05	0.0002	0.0001	0.0003	0	0	0	0.0006	0	0	0	0	0	0.125	0.34444	T	0.101	0.38596	T	0.998	0.73220	D	0.71	0.54502	P	0.036799	0.24479	N	0.406487	0.994072	0.42152	D	1.78	0.46185	L	-0.24	0.66834	T	-2.09	0.59873	N	0.092	0.08925	-0.9642	0.38370	T	0.134	0.44681	T	9	0.038520604	0.02277	T	0.027146	0.49992	D	0.099	0.28413	.	.	0.605179040742	0.60201	0.3413851424254091	0.34051	0.434878192095	0.43611	0.259745955467	0.04861	T	0.014502	0.12336	T	-0.442332	0.01253	T	-0.465931	0.25957	T	0.0958295542673925	0.11892	T	0.708829	0.31953	T	0.042636562	0.06503	0.048602544	0.07254	0.042636562	0.06503	0.048602544	0.07254	-7.936	0.60633	D	.	.	0.204	0.43004	B	.;.	.;.	3.596403	0.50772	23.0	0.99861999108808097	0.94002	0.16192	0.19274	N	AEFI	0.056851	0.10542	N	-0.0269926439049944	0.40636	2.416602	-0.0916118956142619	0.35736	2.07103	2.15909091906374E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	4.93	1.43	0.21585	0.412000	0.20852	3.107000	0.36343	-0.171000	0.11205	0.795000	0.29657	0.999000	0.35428	0.607000	0.31564	0.2977:0.5747:0.0:0.1276	5.928	0.18360	655	0.62421	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	564.98	48	chr6	109619190	.	C	T	564.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.330e-01;DP=726;ExcessHet=0.0000;FS=2.471;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-7.200e-02;SOR=0.402	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1055	20	0	1	0
chr6	109727167	109727167	G	T	exonic	FIG4	.	nonsynonymous SNV	FIG4:NM_014845:exon4:c.G348T:p.M116I,	Amyotrophic lateral sclerosis 11, Autosomal dominant;Charcot-Marie-Tooth disease, type 4J, Autosomal recessive;Yunis-Varon syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1788958	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.35	T	0.009	B	0.013	B	0.000	D	1.000	D	-1.04	N	0.5	T	-1.078	T	0.032	T	0.678	2.105	12.99	4.97	2.282	7.604	18.238	0.213	0.0116303400402	.	.	1.648e-05	0	8.672e-05	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs754936627	3.428e-06	3.42e-06	1.365e-06	5.51e-06	2.237e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	0	2.237e-05	0	0	0	0	3.607e-06	0	0	6.572e-06	6.567e-06	0	1.345e-05	6.55e-05	0	0	.	.	0	0	6.55e-05	0	0	0	0	0	0	0	0.509	0.21467	T	0.349	0.23570	T	0.009	0.15093	B	0.013	0.16460	B	0.000435	0.44522	D	0.255298	0.999989	0.81001	D	0.4	0.12274	N	0.5	0.55608	T	1.31	0.01529	N	0.828	0.82358	-1.0780	0.07741	T	0.032	0.13854	T	10	0.39429653	0.55115	T	0.01163	0.29446	T	0.213	0.50496	0.577	0.70217	0.330331372229	0.32644	0.27812607784165366	0.27725	0.347199639714	0.36609	0.82931125164	0.86457	D	0.215361	0.57721	T	0.00513438	0.52361	T	-0.147536	0.59462	T	0.658075571060181	0.38811	D	0.952605	0.81930	D	0.19109157	0.40722	0.16677801	0.38511	0.19109157	0.40722	0.16677801	0.38510	-1.318	0.01430	T	.	.	0.284	0.51703	B	.;.;.	.;.;.	2.951284	0.39270	20.9	0.97231996636498319	0.32956	0.98232	0.80766	D	AEFI	0.881388	0.80872	D	-0.199736917174058	0.33145	1.877181	0.0704549313319262	0.43072	2.616518	0.999747588251668	0.42466	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.97	4.97	0.65419	7.726000	0.83783	11.456000	0.92812	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.238	0.89894	271	0.89373	SAC domain;SAC domain;SAC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1735.98	34	chr6	109727167	.	G	T	1735.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.92;ReadPosRankSum=-1.114e+00;SOR=0.677	GT:AD:DP:GQ:PL	0/1:85,74:159:99:1750,0,1925	20	0	1	0
chr6	109979173	109979175	GCG	-	exonic	GPR6	.	nonframeshift deletion	GPR6:NM_005284:exon2:c.61_63del:p.A25del	.	.	417	1100	5	0	0	5	0.00226757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.805e-05	0	0	0	0	3.51e-05	0	0.0001	2.59e-05	4	154602	rs760613921	3.186e-05	8.824e-05	3.724e-05	2.644e-05	0.0007	2.443e-05	2.185e-05	0.0002	0.0001	3.061e-05	0.0002	0	7.577e-05	0	0.0007	1.984e-05	0.0001	2.345e-05	2.632e-05	2.628e-05	2.573e-05	2.694e-05	6.55e-05	8.15e-06	5.15e-06	4.88e-06	1.83e-06	0	0	6.55e-05	0	0	0	0	2.943e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1410.94	33	chr6	109979172	.	AGCG	A	1410.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.00;DP=784;ExcessHet=0.0000;FS=6.789;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.71;ReadPosRankSum=-3.760e-01;SOR=0.430	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1208	20	0	1	0
chr6	109979594	109979594	C	T	exonic	GPR6	.	nonsynonymous SNV	GPR6:NM_005284:exon2:c.C482T:p.A161V	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.999	D	0.992	D	0.000	D	1.000	D	2.075	M	1.14	T	-0.857	T	0.171	T	0.789	4.827	27.4	4.83	2.504	7.647	18.095	0.300	0.0278656356506	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1484359266	4.793e-06	6.84e-06	5.452e-06	4.129e-06	0.0001	1.99e-06	1.28e-06	5.804e-05	3.952e-05	0	0.0001	0	0	0	0	8.993e-07	0	0	0.0001	0.0001	8.99e-05	0.0002	0.0013	8.664e-05	7.256e-05	0.0009	0.0007	0	0	0.0013	0	0	0	0	0	0	0	0.001	0.78490	D	0.017	0.60972	D	0.999	0.77913	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.02	0.55341	M	1.14	0.38397	T	-3.58	0.69118	D	0.84	0.83576	-0.8566	0.51505	T	0.171	0.51229	T	10	0.68684274	0.71613	D	0.027866	0.50625	D	0.300	0.62068	0.684	0.82175	0.331200485591	0.32731	0.7660670996959273	0.76555	1.88974443381	0.92707	0.847862482071	0.89291	D	0.388137	0.74889	T	-0.0684379	0.41576	T	-0.066783	0.65856	T	0.885012030601501	0.53530	D	0.964504	0.86839	D	0.7164738	0.78966	0.654751	0.79788	0.7164738	0.78967	0.654751	0.79789	-4.064	0.24757	T	.	.	0.434	0.61408	A	.;.	.;.	5.254140	0.88221	29.5	0.99928449480718451	0.99222	0.68248	0.33730	D	AEFDBCI	0.934561	0.92811	D	0.761674937716804	0.83662	8.076716	0.731654548959484	0.84779	8.388975	0.99999999999994	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	4.83	4.83	0.61880	7.902000	0.86082	7.504000	0.59526	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.095	0.89414	330	0.86467	.;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2119.98	33	chr6	109979594	.	C	T	2119.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.520e-01;DP=879;ExcessHet=0.0000;FS=5.132;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.04;ReadPosRankSum=0.301;SOR=0.390	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1208	20	0	1	0
chr6	110404898	110404898	C	T	exonic	DDO	.	nonsynonymous SNV	DDO:NM_001368172:exon4:c.G334A:p.V112M	.	.	439	1049	32	2	0	36	0.0168697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.973	D	0.675	P	0.004	N	1.000	N	1.54	L	-1.49	T	-0.467	T	0.325	T	0.129	3.373	17.37	4.64	2.644	0.465	6.037	0.280	.	0.0013	0.00159744	0.0031	0.0003	0.0010	0	0	0.0022	0.0011	0.0130	0.0026584	411	154602	rs141098854	0.0017	0.0017	0.0013	0.0022	0.0121	0.0017	0.0017	0.0113	0.0111	8.961e-05	0.0008	0.0179	0	1.872e-05	0.0121	0.0007	0.0030	0.0119	0.0015	0.0015	0.0013	0.0017	0.0145	0.0013	0.0013	0.0118	0.0108	2.405e-05	0	0.0014	0.0159	0	0	0.0102	0.0010	0.0038	0.0145	0.101	0.30375	T	0.213	0.26467	T	0.973	0.57599	D	0.675	0.53279	P	0.004021	0.34221	N	0.245550	1	0.81001	D	.	.	.	-1.49	0.81235	T	-0.68	0.19509	N	0.339	0.38027	-0.4671	0.69827	T	0.325	0.69393	T	10	0.009713918	0.00218	T	.	.	.	0.280	0.59740	.	.	0.781387162742	0.77936	0.41339364752646196	0.41255	0.213166303579	0.23823	0.410024613142	0.26460	T	.	.	.	-0.422757	0.01643	T	-0.36965	0.36929	T	0.0394032923217134	0.03583	T	0.920008	0.71084	D	.	.	.	.	.	.	.	.	-8.309	0.63156	D	.	.	0.209	0.43585	B	.	.	4.352484	0.66859	25.0	0.99855936106604382	0.93458	0.21064	0.21268	N	AEFDGBHCI	0.029746	0.02864	N	0.226385058434532	0.52480	3.42197	0.203662871042581	0.50049	3.201193	0.998288791826577	0.36695	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.62	4.64	0.57399	0.795000	0.26632	2.625000	0.33658	0.596000	0.33519	0.012000	0.18695	0.990000	0.31317	0.980000	0.58198	0.0:0.66:0.1974:0.1426	6.037	0.18936	539	0.73055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1200.98	34	chr6	110404898	.	C	T	1200.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.00;DP=777;ExcessHet=0.0000;FS=1.749;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=-5.940e-01;SOR=0.962	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1220	20	0	1	0
chr6	110456761	110456761	T	C	exonic	SLC22A16	.	nonsynonymous SNV	SLC22A16:NM_033125:exon2:c.A310G:p.N104D,	.	.	426	1093	2	1	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.008	B	0.008	B	0.006	N	1.000	N	0	N	1.48	T	-1.069	T	0.048	T	0.04	1.077	9.397	0.763	-0.119	0.868	5.776	0.038	.	.	0.00738818	0.0038	0	8.639e-05	0	0	0	0.0022	0.0280	0.0033958	525	154602	rs200263837	0.0016	0.0016	0.0009	0.0023	0.0257	0.0016	0.0015	0.0249	0.0245	5.974e-05	2.236e-05	0	5.038e-05	0	0.0012	1.439e-05	0.0017	0.0257	0.0009	0.0009	0.0004	0.0013	0.0273	0.0008	0.0007	0.0235	0.0221	0	0	6.538e-05	0	0	0	0	0	0	0.0273	0.212	0.20381	T	0.207	0.27056	T	0.005	0.14655	B	0.004	0.13708	B	0.006163	0.01113	N	5.254820	1	0.08975	N	0	0.06538	N	-0.04	0.63240	T	-0.58	0.22294	N	0.121	0.21449	-1.0687	0.09701	T	0.048	0.20395	T	10	0.0029841661	0.00049	T	.	.	.	0.038	0.09825	0.36	0.36385	0.213573922156	0.20996	0.5289545914735869	0.52819	0.0154150590524	0.01471	0.303937673569	0.10991	T	0.02424	0.18353	T	-0.632934	0.00092	T	-0.662346	0.08108	T	0.0184367964067303	0.00560	T	0.565243	0.19970	T	0.07001998	0.15388	0.047940005	0.07016	0.07001998	0.15388	0.047940005	0.07016	-3.575	0.17496	T	.	.	0.155	0.34405	B	.;.;.;.;.	.;.;.;.;.	0.203021	0.05874	2.316	0.93440783683806394	0.23218	0.04077	0.09534	N	AEFGBI	0.053991	0.09777	N	-1.0676759614658	0.07245	0.3359881	-1.07346999071854	0.08225	0.4034778	0.0209939263290338	0.13310	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.59	0.763	0.17606	0.878000	0.27770	0.813000	0.21772	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.542:0.2674:0.0:0.1906	5.776	0.17547	493	0.76500	Major facilitator superfamily domain;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2878.98	33	chr6	110456761	.	T	C	2878.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.660e-01;DP=1856;ExcessHet=0.0000;FS=2.798;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.61;ReadPosRankSum=-6.880e-01;SOR=0.623	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:115,0:115:99:.:.:0,120,1800	20	0	1	0
chr6	110456862	110456862	C	T	exonic	SLC22A16	.	nonsynonymous SNV	SLC22A16:NM_033125:exon2:c.G209A:p.S70N,	.	.	427	1075	20	0	0	20	0.00921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.454	P	0.071	B	0.002	N	1.000	N	1.545	L	1.17	T	-1.071	T	0.062	T	0.036	1.983	12.59	-5.05	-0.921	-0.081	5.523	0.044	0.00876804708803	0.0005	0.000798722	0.0009	9.617e-05	0.0004	0	0	0.0006	0.0044	0.0037	0.0007956	123	154602	rs145653089	0.0006	0.0006	0.0005	0.0007	0.0069	0.0006	0.0005	0.0052	0.0046	8.961e-05	0.0001	0	0	0	0.0069	0.0004	0.0008	0.0038	0.0005	0.0005	0.0003	0.0006	0.0035	0.0004	0.0003	0.0022	0.0018	2.406e-05	0	0.0002	0	0	0	0.0034	0.0007	0.0009	0.0035	0.072	0.39575	T	0.077	0.42436	T	0.454	0.36182	P	0.071	0.27960	B	0.001541	0.00798	N	5.930950	1	0.08975	N	0.605	0.15622	N	1.17	0.65192	T	-0.17	0.10833	N	0.078	0.05287	-1.0711	0.09173	T	0.062	0.25923	T	10	0.006997794	0.00159	T	0.008768	0.23147	T	0.044	0.11924	.	.	0.115124310173	0.11017	0.4664323185467218	0.46562	0.015149267968	0.01440	0.209350436926	0.00784	T	0.018852	0.15125	T	-0.607257	0.00132	T	-0.647481	0.09132	T	0.0200073487743766	0.00701	T	0.327067	0.07184	T	0.047845952	0.08244	0.06910523	0.14518	0.047845952	0.08244	0.06910523	0.14517	-6.36	0.49196	T	.	.	0.083	0.09191	B	.;.;.	.;.;.	-0.136266	0.03432	0.628	0.90622664412279952	0.19876	0.09044	0.14877	N	AEFDGBIJ	0.101387	0.20365	N	-0.968869463499155	0.09273	0.4382266	-1.1222374894137	0.07277	0.3533342	0.979797763919298	0.30066	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.91	-5.05	0.02733	-0.041000	0.12036	-1.420000	0.05482	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.2061:0.3793:0.0:0.4146	5.523	0.16230	493	0.76500	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3511.08	33	chr6	110456862	.	C	T	3511.08	.	AC=2;AF=0.048;AN=42;DP=1765;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.75;SOR=0.762	GT:AD:DP:GQ:PL	0/0:115,0:115:99:0,120,1800	20	1	0	0
chr6	110892809	110892813	GAATG	-	exonic	AMD1	.	frameshift deletion	AMD1:NM_001287216:exon3:c.330_334del:p.G112Efs*21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1010.94	37	chr6	110892808	.	TGAATG	T	1010.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.179e+00;DP=777;ExcessHet=0.0000;FS=2.365;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.82;ReadPosRankSum=0.663;SOR=0.432	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr6	110967611	110967611	T	A	exonic	GTF3C6	.	nonsynonymous SNV	GTF3C6:NM_138408:exon6:c.T463A:p.S155T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.004	B	0.001	B	0.864	N	1.000	N	0.55	N	.	.	-0.970	T	0.024	T	0.049	0.608	7.273	1.76	0.087	-0.633	7.685	0.019	0.00350830718814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.37536	T	0.356	0.17166	T	0.004	0.12183	B	0.001	0.04355	B	0.863997	0.08874	N	0.940382	1	0.08975	N	0	0.06538	N	.	.	.	-0.64	0.18670	N	0.077	0.05162	-0.9696	0.37283	T	0.024	0.10284	T	9	0.04429856	0.03372	T	0.003508	0.07969	T	0.019	0.03383	0.202	0.11659	0.0297737177859	0.01360	0.10424703385000143	0.10354	0.20160942184	0.22562	0.261545181274	0.05076	T	0.006108	0.05549	T	-0.339016	0.05456	T	-0.724749	0.04569	T	0.031849655908887	0.02282	T	0.390761	0.09705	T	0.0345114	0.03885	0.033070147	0.02143	0.0345114	0.03885	0.033070147	0.02143	-3.698	0.19289	T	.	.	0.064	0.01762	B	.	.	0.159948	0.05504	1.970	0.8700386929118098	0.16921	0.05558	0.11455	N	AEFGBI	0.239082	0.36110	N	-1.02349257663031	0.08118	0.3795192	-1.00875500482365	0.09592	0.4781032	0.549768588616673	0.21324	0.732398	0.92422	0	0.743671	0.97443	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.15	1.76	0.23776	-0.510000	0.06411	-2.030000	0.04319	-0.242000	0.07441	0.009000	0.18154	0.000000	0.08366	0.140000	0.19946	0.0:0.448:0.4482:0.1038	7.685	0.27700	609	0.67094	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	843.98	34	chr6	110967611	.	T	A	843.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.312e+00;DP=761;ExcessHet=0.0000;FS=0.974;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.62;MQRankSum=0.00;QD=12.98;ReadPosRankSum=0.125;SOR=0.495	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1066	20	0	1	0
chr6	111263889	111263889	A	G	exonic	MFSD4B	.	nonsynonymous SNV	MFSD4B:NM_153369:exon3:c.A256G:p.I86V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.001	B	0.275	N	1.000	N	-0.425	N	0.42	T	-0.986	T	0.017	T	0.009	-2.243	0.004	1.37	0.347	-0.488	1.661	0.044	0.00416772821479	0.0002	0.000199681	0.0004	9.61e-05	8.637e-05	0.0001	0	0.0002	0	0.0018	0.0002975	46	154602	rs145184768	0.0002	0.0002	0.0001	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	0.0003	6.719e-05	0	0	0	0.0007	4.411e-05	0.0002	0.0018	0.0002	0.0002	0.0001	0.0002	0.0015	0.0001	0.0001	0.0007	0.0005	0.0003	0	0	0	0	0	0	0.0001	0.0005	0.0015	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.274916	0.15056	N	0.691023	1	0.08975	N	.	.	.	0.42	0.56937	T	0.1	0.05810	N	0.045	0.01740	-0.9859	0.33615	T	0.017	0.06902	T	10	0.0061008334	0.00137	T	0.004168	0.10026	T	0.044	0.11924	.	.	0.110078149338	0.10416	0.1623742811279017	0.16157	0.0644950670279	0.07196	0.259686589241	0.04854	T	0.051431	0.28876	T	-0.683408	0.00046	T	-0.761708	0.03051	T	0.0171480275599229	0.00460	T	0.232977	0.03169	T	0.035510525	0.04193	0.026533177	0.00748	0.035510525	0.04193	0.026533177	0.00748	-2.782	0.08018	T	.	.	.	.	.	.	.	-0.278095	0.02716	0.357	0.46290588996522047	0.03697	0.02907	0.07706	N	AEDGBHCIJ	0.037722	0.05230	N	-1.30656373547751	0.03600	0.1610674	-1.23502623861267	0.05356	0.2550039	0.999999999839461	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.608884	0.39905	0	0.463824	0.07026	1	.	.	5.8	1.37	0.21200	-0.444000	0.06926	-1.584000	0.05119	-0.207000	0.08511	0.000000	0.06391	0.000000	0.08366	0.076000	0.17014	0.317:0.1426:0.4041:0.1363	1.661	0.02623	631	0.64944	Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1333.98	36	chr6	111263889	.	A	G	1333.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.178;DP=796;ExcessHet=0.0000;FS=5.750;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.30;ReadPosRankSum=-8.900e-02;SOR=0.350	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1195	20	0	1	0
chr6	111344045	111344045	-	A	splicing	REV3L	NM_002912:exon22:c.7420-2->T;NM_001286432:exon23:c.7186-2->T;NM_001286431:exon24:c.7186-2->T;NM_001372078:exon21:c.7420-2->T	.	.	.	.	433	1062	25	2	0	29	0.0134696	.	.	777644	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0046	0.00559105	0.0073	0.0007	0.0035	0.0030	0.0004	0.0029	0.0066	0.035	0.0008068	21	26028	rs565415842	0.0022	0.0052	0.0016	0.0029	0.0238	0.0021	0.0021	0.0229	0.0225	0.0004	0.0017	0.0039	0.0002	0.0003	0.0080	0.0008	0.0026	0.0238	0.0013	0.0013	0.0009	0.0016	0.0193	0.0011	0.0011	0.0161	0.0149	0.0002	0	0.0017	0.0026	0	0	0.0068	0.0007	0.0014	0.0193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	781.94	66	chr6	111344045	.	T	TA	781.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=841;ExcessHet=0.0000;FS=14.393;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=0.938;SOR=2.315	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr6	111376268	111376268	T	A	exonic	REV3L	.	nonsynonymous SNV	REV3L:NM_001372078:exon13:c.A2087T:p.H696L	.	.	419	1102	1	0	0	1	0.000453515	.	.	3200261	REV3L-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.04	D	0.001	B	0.001	B	0.007	N	0.931	D	0.805	L	4.91	T	-0.801	T	0.003	T	0.711	1.870	12.21	5.53	2.107	5.203	15.673	0.167	.	.	0.00559105	0.0020	9.787e-05	8.693e-05	0	0	0	0.0011	0.0147	0.0018499	286	154602	rs201233180	0.0009	0.0009	0.0005	0.0012	0.0135	0.0008	0.0008	0.0128	0.0126	5.976e-05	2.237e-05	0	7.563e-05	0	0.0003	8.995e-07	0.0013	0.0135	0.0006	0.0006	0.0004	0.0008	0.0192	0.0005	0.0005	0.0161	0.0149	2.405e-05	0	0	0	0.0002	0	0	0	0	0.0192	0.002	0.72154	D	0.111	0.37730	T	0.001	0.07471	B	0.001	0.04355	B	0.007012	0.31656	N	0.315773	0.930906	0.36972	D	.	.	.	4.91	0.01516	T	-1.87	0.43717	N	0.624	0.69737	-0.8013	0.55068	T	0.003	0.00994	T	10	0.004295528	0.00086	T	.	.	.	0.167	0.42761	.	.	0.283272178027	0.27931	0.5569181366809873	0.55618	0.0990860901721	0.11200	0.546316385269	0.45337	T	0.184391	0.53703	T	-0.344746	0.05067	T	-0.256304	0.49191	T	0.0559357523108275	0.06513	T	0.69643	0.30590	T	0.16685407	0.37046	0.17766419	0.40383	0.18698233	0.40131	0.20982897	0.45343	-2.127	0.03879	T	.	.	0.091	0.12938	B	.;.;.;.	.;.;.;.	2.666972	0.34762	19.72	0.96790162640617206	0.31109	0.95918	0.66717	D	AEFBI	0.344395	0.43989	N	-0.0517486405581471	0.39524	2.332202	0.146335026169269	0.46949	2.932587	0.995086950631297	0.33945	0.651	0.46895	0	0.653731	0.59785	0	0.573888	0.23631	0	0.683762	0.67416	0	.	.	5.53	5.53	0.82530	6.901000	0.75513	6.221000	0.55125	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:0.0:1.0	15.673	0.77045	769	0.49307	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1748.98	34	chr6	111376268	.	T	A	1748.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.04;DP=1010;ExcessHet=0.0000;FS=3.130;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=-1.155e+00;SOR=0.591	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr6	111580262	111580262	G	T	exonic	TRAF3IP2	.	nonsynonymous SNV	TRAF3IP2:NM_001164281:exon3:c.C957A:p.S319R	.	.	424	1080	16	2	0	20	0.00917431	.	.	521681	Candidiasis,_familial,_8|TRAF3IP2-related_disorder	MONDO:MONDO:0014230,MedGen:C3714992,OMIM:615527,Orphanet:1334|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.19	T	0.937	P	0.529	P	0.000	D	1.000	D	1.905	M	1.2	T	-1.112	T	0.058	T	0.581	3.858	19.60	1.77	0.435	0.057	9.803	0.112	0.0105387821715	0.0011	0.000599042	0.0018	0	0.0006	0	0.0002	0.0022	0.0033	0.0038	0.0016171	250	154602	rs146226365	0.0013	0.0013	0.0012	0.0014	0.0087	0.0013	0.0012	0.0068	0.0061	5.982e-05	0.0004	0.0169	0	0.0002	0.0087	0.0008	0.0023	0.0041	0.0012	0.0012	0.0012	0.0012	0.0052	0.0010	0.0010	0.0036	0.0031	9.62e-05	0	0.0005	0.0161	0	0	0	0.0011	0.0043	0.0052	0.01	0.56456	D	0.044	0.50226	D	0.937	0.52445	P	0.529	0.48508	P	0.000322	0.45700	D	0.156174	1	0.81001	D	2.395	0.69210	M	1.2	0.37746	T	-1.28	0.32185	N	0.266	0.30687	-1.1119	0.02912	T	0.058	0.24317	T	10	0.007829368	0.00178	T	0.010539	0.27195	T	0.112	0.31546	0.369	0.37850	0.562580035486	0.55921	0.383433040672227	0.38258	0.248281453922	0.27391	0.36838644743	0.20599	T	0.144915	0.48178	T	-0.374221	0.03386	T	-0.312109	0.43432	T	0.0511625810549959	0.05703	T	0.618838	0.23746	T	0.06632413	0.14260	0.0971476	0.23110	0.09406443	0.22106	0.09396534	0.22219	-3.425	0.16487	T	0.2385391721129201	0.32307	0.247	0.53747	B	.;.;.;.	.;.;.;.	2.820424	0.37150	20.4	0.99794009709139653	0.87928	0.76255	0.37385	D	AEFDBI	0.194552	0.32162	N	0.138979454985184	0.48291	3.043194	0.135237814780427	0.46365	2.883631	0.999994259232576	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.99	1.77	0.23848	0.252000	0.18046	0.085000	0.14440	0.676000	0.76740	0.994000	0.38300	0.071000	0.22219	0.991000	0.66497	0.3261:0.0:0.6739:0.0	9.803	0.39945	386	0.83455	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3016.08	85	chr6	111580262	.	G	T	3016.08	.	AC=2;AF=0.048;AN=42;DP=1636;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=26.93;SOR=0.804	GT:AD:DP:GQ:PL	0/0:101,0:101:99:0,120,1800	20	1	0	0
chr6	112061190	112061190	G	A	exonic	CCN6	.	nonsynonymous SNV	CCN6:NM_198239:exon2:c.G248A:p.G83E	.	.	0	1499	18	5	0	28	0.00925314	.	.	626074	not_provided|Progressive_pseudorheumatoid_dysplasia	MedGen:C3661900|MONDO:MONDO:0008827,MedGen:C0432215,OMIM:208230,Orphanet:1159	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.965	M	-0.96	T	0.395	D	0.604	D	0.944	4.597	25.0	4.62	2.254	7.766	17.845	0.874	.	0.0004	0.00399361	0.0027	0.0002	0.0008	0	0	0.0008	0.0022	0.0158	0.002335	361	154602	rs147337485	0.0014	0.0014	0.0009	0.0019	0.0161	0.0014	0.0013	0.0154	0.0152	8.961e-05	0.0005	0.0006	2.519e-05	1.872e-05	0.0061	0.0004	0.0016	0.0161	0.0009	0.0009	0.0007	0.0011	0.0162	0.0008	0.0007	0.0133	0.0122	0.0001	0	0.0003	0.0006	0.0002	0	0.0034	0.0006	0.0005	0.0162	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.45	0.92227	M	-0.96	0.75553	T	-6.29	0.90729	D	0.436	0.47580	0.395	0.89020	D	0.604	0.85932	D	10	0.01232028	0.00265	T	.	.	.	0.874	0.96243	.	.	0.832614169309	0.83102	0.6373487448101447	0.63668	0.417238379944	0.42347	0.527511000633	0.42684	T	0.366326	0.73159	T	0.0487491	0.58182	T	0.310222	0.88663	D	0.0885072440390706	0.11038	T	0.868313	0.59215	D	0.9631424	0.97594	0.9376043	0.97609	0.9631424	0.97594	0.9376043	0.97610	-9.715	0.72365	D	.	.	0.215	0.47470	B	.;.;.;.;.	.;.;.;.;.	4.812746	0.78303	26.9	0.99779883598577257	0.86693	0.98607	0.84635	D	AEFDBI	0.933657	0.92588	D	0.832007187408141	0.88060	9.439173	0.747208251477059	0.85946	8.735362	0.999999999999901	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.62	4.62	0.56946	6.697000	0.74428	11.796000	0.96513	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.0:1.0:0.0	17.845	0.88640	693	0.58582	.;Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor binding protein, N-terminal, Cys-rich conserved site|Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor-binding protein, IGFBP;Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor binding protein, N-terminal, Cys-rich conserved site|Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor-binding protein, IGFBP;Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor binding protein, N-terminal, Cys-rich conserved site|Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor-binding protein, IGFBP;Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor binding protein, N-terminal, Cys-rich conserved site|Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor-binding protein, IGFBP	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2076.98	34	chr6	112061190	.	G	A	2076.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.96;DP=940;ExcessHet=0.0000;FS=2.456;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.94;ReadPosRankSum=-3.990e-01;SOR=0.875	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1342	20	0	1	0
chr6	112155682	112155682	G	C	exonic	LAMA4	.	nonsynonymous SNV	LAMA4:NM_001105206:exon15:c.C1842G:p.N614K	Cardiomyopathy, dilated, 1JJ, Autosomal dominant	.	1	1517	4	0	0	4	0.00131666	.	.	903878	Cardiomyopathy	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.38	T	1.0	D	0.998	D	0.000	D	1.000	D	1.59	L	2.78	T	-1.098	T	0.025	T	0.354	3.535	18.04	-2.69	-0.628	-0.213	10.824	0.179	0.012721450718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.026	0.55759	D	.	.	.	.	.	.	0.000000	0.84330	D	0.084922	0.919338	0.36631	D	.	.	.	2.78	0.11622	T	-2.8	0.59226	D	0.71	0.71321	-1.0976	0.04394	T	0.025	0.10866	T	10	0.4541854	0.58886	T	0.012721	0.31538	T	0.179	0.44899	0.38	0.39645	0.288352970974	0.28455	0.43044742118513357	0.42961	0.612211333373	0.55821	0.612780213356	0.54709	T	0.074609	0.34979	T	-0.171543	0.25002	T	-0.484186	0.24001	T	0.988904058933258	0.79181	D	0.813419	0.46649	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.447	0.68900	A	.;.;.;.	.;.;.;.	1.915584	0.24327	16.36	0.99623439846655615	0.75594	0.37549	0.25787	N	AEFGBCI	0.347676	0.44206	N	-0.229138371702725	0.31942	1.796284	-0.32523954170153	0.27285	1.513006	0.999958056345377	0.48110	0.730579	0.87903	0	0.59043	0.45803	0	0.602189	0.34648	0	0.648885	0.59868	0	.	.	5.42	-2.69	0.05668	-0.516000	0.06367	-1.551000	0.05189	-0.116000	0.14526	0.338000	0.25657	0.000000	0.08366	0.997000	0.79791	0.5313:0.0:0.4687:0.0	10.824	0.45823	762	0.50290	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2094.98	34	chr6	112155682	.	G	C	2094.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.990e-01;DP=878;ExcessHet=0.0000;FS=0.565;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=-1.843e+00;SOR=0.694	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1272	20	0	1	0
chr6	116003894	116003894	C	T	exonic	FRK	.	nonsynonymous SNV	FRK:NM_002031:exon2:c.G449A:p.G150E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.945	D	0.000	D	1.000	D	4.125	H	-3.41	D	1.076	D	0.939	D	0.709	3.842	19.52	5.97	2.825	4.667	19.993	0.805	0.0273249798612	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1464110429	1.369e-05	1.368e-05	1.634e-05	1.1e-05	0.0002	8.94e-06	7.27e-06	1.012e-05	8.35e-06	0	0	0	0	0	0.0002	1.619e-05	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.72224	D	0.999	0.77913	D	0.945	0.68163	D	0.000008	0.62929	D	0.000000	0.999999	0.58761	D	3.67	0.94359	H	.	.	.	.	.	.	0.605	0.62273	1.076	0.98764	D	0.939	0.97989	D	10	0.9777621	0.97621	D	0.027325	0.50151	D	.	.	0.905	0.97985	0.718249617326	0.71577	0.8036999767517397	0.80323	0.797983733474	0.66116	0.554559588432	0.46500	T	0.794883	0.94709	D	0.188583	0.72833	D	0.0331103	0.72480	D	0.990030407905579	0.80250	D	0.949005	0.80370	D	0.8485021	0.87225	0.85464644	0.91817	0.8485021	0.87227	0.85464644	0.91818	-7.922	0.60537	D	.	.	0.379	0.58381	A	.	.	4.898542	0.80495	27.3	0.99738918572178337	0.83337	0.82248	0.41504	D	ALL	0.535386	0.55403	D	0.965736605927994	0.94589	12.87757	0.875216331651616	0.94398	12.73089	0.999999999998119	0.74766	0.487112	0.14033	0	0.047448	0.00088	3	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.97	5.97	0.96935	4.402000	0.59482	7.590000	0.61220	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:1.0:0.0:0.0	19.993	0.97376	806	0.43582	SH2 domain|SH2 domain|SH2 domain|SH2 domain|Tyrosine-protein kinase Frk, SH2 domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	936.98	59	chr6	116003894	.	C	T	936.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.420e-01;DP=764;ExcessHet=0.0000;FS=2.318;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.88;ReadPosRankSum=0.119;SOR=0.982	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,117,1167	20	0	1	0
chr6	116253540	116253540	G	T	exonic	TSPYL4	.	nonsynonymous SNV	TSPYL4:NM_021648:exon1:c.C469A:p.R157S,	.	.	418	1079	22	3	0	28	0.0128088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.003	B	0.001	B	.	.	1.000	N	0	N	2.22	T	-0.923	T	0.004	T	0.072	-0.731	0.875	-3.56	-0.968	-0.245	3.581	0.008	.	.	0.00119808	0.0061	0	0	0	0	0.0040	0.0042	0.0123	0.0011837	183	154602	rs182432245	0.0018	0.0017	0.0014	0.0022	0.0124	0.0017	0.0017	0.0118	0.0115	0.0003	0.0011	0.0104	2.798e-05	0.0003	0.0065	0.0009	0.0029	0.0124	0.0014	0.0014	0.0013	0.0015	0.0108	0.0012	0.0012	0.0085	0.0076	0.0002	0	0.0013	0.0075	0.0002	9.443e-05	0.0102	0.0014	0.0024	0.0108	0.721	0.03914	T	0.739	0.05000	T	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	0.999996	0.08975	N	0	0.06538	N	2.22	0.18248	T	0.82	0.01813	N	0.108	0.09349	-0.9230	0.45141	T	0.004	0.01435	T	9	0.0025902987	0.00039	T	.	.	.	0.008	0.00669	.	.	0.0482279557977	0.04254	0.09711456065731681	0.09642	0.372870948759	0.38771	0.356619268656	0.18893	T	0.00125	0.00742	T	-0.722558	0.00027	T	-0.800293	0.01895	T	0.0021529706113725	0.00022	T	0.135486	0.01070	T	0.078095175	0.17764	0.061591078	0.11916	0.078095175	0.17763	0.061591078	0.11916	-3.624	0.18204	T	.	.	0.112	0.21913	B	.	.	-0.051698	0.03940	0.877	0.80589257094945266	0.13275	0.07228	0.13253	N	ALL	0.085917	0.17419	N	-1.7363353794475	0.00721	0.03111612	-1.69043245975076	0.01180	0.05311064	0.999999999993605	0.74766	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.241949	0.04745	2	.	.	4.19	-3.56	0.04330	-0.401000	0.07293	-0.038000	0.12706	-0.741000	0.03665	0.000000	0.06391	0.000000	0.08366	0.431000	0.27472	0.2239:0.4961:0.1579:0.1221	3.581	0.07502	559	0.71409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4717.11	84	chr6	116253540	.	G	T	4717.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.35;DP=1632;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.36;ReadPosRankSum=0.287;SOR=0.696	GT:AD:DP:GQ:PL	0/0:82,0:82:99:0,120,1800	19	0	2	0
chr6	116511763	116511763	A	G	exonic	CALHM5	.	nonsynonymous SNV	CALHM5:NM_153711:exon1:c.A67G:p.M23V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.015	B	0.012	B	0.000	D	1.000	D	0.93	L	2.61	T	-0.920	T	0.006	T	0.705	-0.150	3.269	0.183	-0.115	2.722	7.273	0.250	0.0112165894594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.572e-06	6.567e-06	0	1.346e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.608	0.05501	T	0.485	0.11725	T	0.015	0.17086	B	0.012	0.16012	B	0.000000	0.84330	D	0.035539	1	0.81001	D	.	.	.	2.61	0.13095	T	0.49	0.02993	N	0.415	0.45520	-0.9202	0.45527	T	0.006	0.02093	T	10	0.08935237	0.15470	T	0.011217	0.28621	T	0.250	0.55888	0.529	0.63560	0.0138822411134	0.00435	0.7186016902622785	0.71803	0.111667671248	0.12603	0.55644094944	0.46765	T	0.001991	0.01403	T	-0.00403329	0.51097	T	-0.24357	0.50449	T	0.0747686644360167	0.09305	T	0.746525	0.36724	T	0.18513583	0.39862	0.17609873	0.40121	0.18513583	0.39862	0.17609873	0.40120	-1.747	0.02356	T	.	.	0.144	0.31658	B	.	.	1.342530	0.17492	13.20	0.67452160627616087	0.08359	0.80566	0.40170	D	AEFGBHCI	0.401818	0.47615	N	-0.809336623542945	0.13071	0.6414024	-0.666283661793895	0.17807	0.9484482	0.999999995357962	0.74766	0.393558	0.05922	0	0.491513	0.07743	0	0.687007	0.62461	0	0.56214	0.19341	0	.	.	5.63	0.183	0.14365	2.694000	0.46702	1.634000	0.27755	-0.095000	0.16041	1.000000	0.71638	0.994000	0.32194	0.921000	0.45669	0.5215:0.2446:0.0:0.2339	7.273	0.25443	530	0.73653	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	781.98	75	chr6	116511763	.	A	G	781.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.632e+00;DP=766;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=1.16;SOR=0.614	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1127	20	0	1	0
chr6	116511997	116511997	G	C	exonic	CALHM5	.	nonsynonymous SNV	CALHM5:NM_153711:exon1:c.G301C:p.G101R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.603	P	0.257	B	0.083	N	1.000	N	2.045	M	2.28	T	-1.041	T	0.019	T	0.627	0.595	7.208	3.7	1.464	0.552	8.493	0.191	0.0124719928874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.329	0.13175	T	0.382	0.15890	T	0.603	0.39389	P	0.257	0.39298	B	0.082796	0.20789	N	0.562674	0.999987	0.18198	N	.	.	.	2.28	0.17271	T	-1.97	0.45587	N	0.688	0.69387	-1.0412	0.16951	T	0.019	0.08173	T	10	0.6576626	0.69969	D	0.012472	0.31071	T	0.191	0.46948	0.679	0.81691	0.0297737177859	0.01360	0.7496705624280515	0.74914	0.389099320883	0.40161	0.607858538628	0.54014	T	0.014533	0.12356	T	-0.10882	0.34962	T	-0.394089	0.34074	T	0.421332240104675	0.29739	T	0.844715	0.52235	T	0.10379162	0.24534	0.1178117	0.28439	0.10379162	0.24533	0.1178117	0.28439	-5.747	0.44110	T	.	.	0.785	0.76618	P	.	.	1.733489	0.22059	15.46	0.95464623518106961	0.27004	0.17643	0.19925	N	AEFDGBCIJ	0.184561	0.31189	N	-0.291351699331998	0.29481	1.635265	-0.343194258111917	0.26719	1.477732	0.999997592741511	0.74766	0.615755	0.39536	0	0.618376	0.53248	0	0.55559	0.18752	1	0.372554	0.06265	0	.	.	5.5	3.7	0.41607	0.576000	0.23446	3.430000	0.38309	0.676000	0.76740	0.148000	0.23625	1.000000	0.68203	0.159000	0.20615	0.2329:0.0:0.7671:0.0	8.493	0.32271	531	0.73574	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	778.98	37	chr6	116511997	.	G	C	778.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.53;DP=794;ExcessHet=0.0000;FS=6.013;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.27;ReadPosRankSum=-1.016e+00;SOR=1.407	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1127	20	0	1	0
chr6	116558035	116558035	G	A	exonic	CALHM4	.	nonsynonymous SNV	CALHM4:NM_001366078:exon2:c.G769A:p.G257R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	1.0	D	1.0	D	0.000	D	1.000	D	2.255	M	2.26	T	-1.128	T	0.086	T	0.921	2.955	15.85	5.99	2.847	6.071	19.464	0.350	0.0329153282242	7.7e-05	.	0.0003	0	8.639e-05	0	0	2.997e-05	0	0.0018	0.0002264	35	154602	rs151332485	0.0001	0.0001	7.351e-05	0.0002	0.0019	0.0001	0.0001	0.0017	0.0016	0	0.0001	0	0	1.872e-05	0	3.147e-05	6.623e-05	0.0019	0.0001	0.0001	0.0001	9.402e-05	0.0010	7.089e-05	5.745e-05	0.0004	0.0003	0.0002	0	0	0	0	0	0.0034	5.881e-05	0	0.0010	0.094	0.58626	T	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000009	0.62929	D	0.000000	0.99985	0.49910	D	.	.	.	2.26	0.17596	T	-2.17	0.49018	N	0.43	0.59816	-1.1281	0.01875	T	0.086	0.33466	T	10	0.03886184	0.02334	T	0.032915	0.54612	D	0.350	0.67142	0.404	0.43573	0.337868961071	0.33390	0.3684622874575098	0.36760	0.555354636073	0.52233	0.555560827255	0.46640	T	0.017324	0.14153	T	-0.100332	0.36371	T	0.0584762	0.74143	D	0.250390454890697	0.22890	T	0.844016	0.62800	T	0.20102301	0.42098	0.22188002	0.47014	0.20102301	0.42098	0.22188002	0.47013	-3.466	0.17267	T	.	.	0.299	0.52929	B	.;.;.;.;.	.;.;.;.;.	4.261072	0.64760	24.7	0.99872884864066647	0.94989	0.83855	0.42948	D	ALL	0.636979	0.61593	D	0.519455405108272	0.68242	5.190158	0.445387158280962	0.64422	4.696921	1.0	0.98316	0.693307	0.56506	0	0.573888	0.26702	0	0.547309	0.15389	0	0.830532	0.99962	0	.	.	5.99	5.99	0.97299	4.583000	0.60675	9.807000	0.81726	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.106000	0.18562	0.0:0.0:1.0:0.0	19.464	0.94923	494	0.76445	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2297.98	37	chr6	116558035	.	G	A	2297.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=1001;ExcessHet=0.0000;FS=2.496;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=1.12;SOR=0.515	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr6	116647521	116647521	T	C	exonic	ZUP1	.	nonsynonymous SNV	ZUP1:NM_001361191:exon7:c.A818G:p.E273G	.	.	430	1082	10	0	0	10	0.00459982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.004	B	0.004	B	0.144	N	1.000	D	-0.03	N	1.48	T	-1.034	T	0.016	T	0.086	0.766	8.051	4.15	1.994	0.772	9.715	0.137	0.0112721501329	0.0009	0.000399361	0.0010	0	0.0005	0	0	0.0017	0.0022	0.0001	0.0009767	151	154602	rs145019610	0.0008	0.0008	0.0008	0.0008	0.0012	0.0008	0.0008	0.0006	0.0004	5.991e-05	0.0006	0.0221	0	1.895e-05	0.0012	0.0004	0.0021	5.906e-05	0.0010	0.0010	0.0010	0.0010	0.0012	0.0009	0.0008	0.0008	0.0007	2.406e-05	0	0.0012	0.0265	0	9.422e-05	0	0.0006	0.0014	0.0002	0.183	0.21718	T	0.309	0.19782	T	0.004	0.12183	B	0.004	0.10090	B	0.143679	0.18203	N	0.590360	0.68812	0.33299	D	.	.	.	1.48	0.31731	T	0.08	0.06026	N	0.199	0.21969	-1.0342	0.19109	T	0.016	0.06664	T	10	0.0035780668	0.00065	T	0.011272	0.28723	T	0.137	0.36984	.	.	0.238096912614	0.23440	0.3370921876838863	0.33622	0.392253626547	0.40409	0.389418780804	0.23587	T	0.001211	0.00709	T	-0.539341	0.00338	T	-0.630534	0.10374	T	0.0347988766970412	0.02775	T	0.582242	0.21111	T	0.13868183	0.32064	0.06918779	0.14545	0.13868183	0.32064	0.06918779	0.14544	-5.078	0.37674	T	.	.	0.076	0.06114	B	.	.	2.127782	0.27087	17.34	0.96888735901079237	0.31488	0.75199	0.36808	D	AEFBI	0.185689	0.31301	N	-0.467145087098508	0.23162	1.24193	-0.259166875711531	0.29457	1.650484	0.957874029027005	0.28329	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.28	4.15	0.47978	1.098000	0.30612	3.260000	0.37085	0.609000	0.47794	0.977000	0.34929	1.000000	0.68203	0.834000	0.39329	0.0:0.114:0.0:0.886	9.715	0.39436	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	978.98	42	chr6	116647521	.	T	C	978.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.132e+00;DP=786;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=0.964;SOR=0.722	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1160	20	0	1	0
chr6	116647594	116647594	A	G	exonic	ZUP1	.	nonsynonymous SNV	ZUP1:NM_001361191:exon7:c.T745C:p.F249L	.	.	434	1081	7	0	0	7	0.00322729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	1.0	D	0.998	D	0.000	D	1.000	D	2.64	M	1.46	T	-0.827	T	0.161	T	0.828	4.022	20.6	5.38	2.040	7.898	15.390	0.556	0.0406505107575	.	0.000599042	0.0007	0	8.737e-05	0	0	0.0004	0.0022	0.0034	0.0007115	110	154602	rs202076827	0.0008	0.0008	0.0008	0.0009	0.0038	0.0008	0.0008	0.0035	0.0033	9.136e-05	0.0001	0	0	3.874e-05	0.0002	0.0007	0.0008	0.0038	0.0004	0.0004	0.0003	0.0004	0.0033	0.0003	0.0003	0.0021	0.0017	7.218e-05	0	6.537e-05	0	0.0002	0	0	0.0005	0.0009	0.0033	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.096896	1	0.81001	D	.	.	.	1.46	0.32238	T	-4.62	0.79143	D	0.9	0.90025	-0.8271	0.53486	T	0.161	0.49548	T	10	0.08332977	0.13849	T	0.040651	0.59492	D	0.556	0.81717	0.923	0.98673	0.579989844333	0.57669	0.6981242584125804	0.69753	0.335070030475	0.35518	0.773930847645	0.78013	T	0.234153	0.60112	T	-0.12039	0.33059	T	0.0528192	0.73770	D	0.278708964032675	0.24117	T	0.892711	0.62952	D	0.9727121	0.98507	0.9407066	0.97814	0.9727121	0.98507	0.9407066	0.97814	-13.055	0.89589	D	.	.	0.987	0.92844	P	.	.	4.909861	0.80777	27.4	0.99861269075028813	0.94002	0.98675	0.85440	D	AEFBI	0.908481	0.86384	D	0.677395820120523	0.78149	6.814161	0.615372813571923	0.76055	6.421203	0.999999967284782	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.669	0.65921	0	.	.	5.38	5.38	0.77279	7.933000	0.87098	10.898000	0.84125	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	15.390	0.74455	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	593.98	42	chr6	116647594	.	A	G	593.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.836;DP=766;ExcessHet=0.0000;FS=2.911;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=0.440;SOR=1.295	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1160	20	0	1	0
chr6	116922131	116922131	G	C	exonic	RFX6	.	nonsynonymous SNV	RFX6:NM_173560:exon13:c.G1417C:p.V473L,	Mitchell-Riley syndrome, Autosomal recessive	.	1	1516	4	1	0	6	0.00197498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.849	P	0.276	B	0.000	D	1.000	D	1.965	M	0.15	T	-0.763	T	0.143	T	0.739	3.190	16.68	5.19	2.434	7.467	18.729	0.296	0.0361949040066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.3e-06	3.431e-06	1.546e-06	3.042e-06	0.0002	6.1e-07	1.7e-07	.	.	0	0	0	0	0	0.0002	0	1.821e-05	1.212e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.104	0.38160	T	0.849	0.46879	P	0.276	0.40142	B	0.000004	0.62929	D	0.060969	0.999987	0.54805	D	1.91	0.51138	L	0.15	0.60734	T	-2.45	0.53577	N	0.711	0.71410	-0.7629	0.57248	T	0.143	0.46495	T	10	0.6944088	0.72053	D	0.036195	0.56837	D	0.296	0.61616	0.611	0.74418	0.484985748688	0.48131	0.6107918419179988	0.61011	0.540360582224	0.51234	0.621403098106	0.55928	T	0.587395	0.86581	D	0.12137	0.66509	D	-0.0634365	0.66090	T	0.965342938899994	0.67238	D	0.844016	0.52137	T	0.44952357	0.64010	0.39447236	0.64140	0.44952357	0.64011	0.39447236	0.64140	-10.871	0.78945	D	0.3355813810798721	0.43351	0.448	0.62088	A	.	.	3.251005	0.44415	21.9	0.99446162669960947	0.65021	0.98044	0.79127	D	AEFI	0.932103	0.92195	D	0.516284743275793	0.68053	5.164454	0.572549234458295	0.72979	5.895969	0.815752283593446	0.24435	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.19	5.19	0.71428	7.583000	0.81848	9.972000	0.82868	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.729	0.91691	381	0.83684	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	753.98	38	chr6	116922131	.	G	C	753.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.954;DP=888;ExcessHet=0.0000;FS=1.984;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.93;ReadPosRankSum=-8.910e-01;SOR=0.468	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr6	117383444	117383444	T	C	exonic	ROS1	.	nonsynonymous SNV	ROS1:NM_002944:exon16:c.A2369G:p.N790S	.	.	.	.	.	.	.	.	.	.	.	710138	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.05	D	0.948	P	0.508	P	0.000	D	1.000	D	0.345	N	-2.89	D	0.127	D	0.491	T	0.044	2.350	13.82	4.57	1.834	2.161	12.017	0.326	.	0.0096	0.0115815	0.0028	0.0297	0.0015	0	0	0.0001	0.0033	0	0.0027361	423	154602	rs34582164	0.0008	0.0008	0.0010	0.0007	0.0284	0.0008	0.0008	0.0269	0.0263	0.0284	0.0016	0	0	0	0.0024	7.285e-05	0.0018	1.159e-05	0.0086	0.0086	0.0090	0.0082	0.0297	0.0082	0.0081	0.0283	0.0278	0.0297	0	0.0039	0	0	0	0.0034	8.82e-05	0.0047	0	0.051	0.39575	T	0.013	0.63109	D	0.948	0.53620	P	0.508	0.47889	P	0.000433	0.44522	D	0.097304	0.991088	0.24084	N	0.805	0.20218	L	-2.89	0.91589	D	-1.12	0.28906	N	0.367	0.40864	0.127	0.84656	D	0.491	0.80668	T	10	0.00724113	0.00165	T	.	.	.	0.326	0.64826	.	.	0.540472623666	0.53699	0.3721379142661114	0.37127	0.119512587018	0.13456	0.471038341522	0.34824	T	0.105847	0.41668	T	-0.44685	0.01179	T	-0.39096	0.34438	T	0.0256744359012161	0.01362	T	0.881612	0.60121	D	0.091167755	0.21356	0.10858057	0.26158	0.10541865	0.24925	0.10327585	0.24775	-6.36	0.49196	T	0.23995788645127605	0.32503	0.107	0.20235	B	.;.	.;.	4.866398	0.79681	27.2	0.99479499735145616	0.66795	0.79213	0.39210	D	AEFBI	0.318817	0.42241	N	0.19931557384287	0.51166	3.300095	0.260895037028158	0.53270	3.496891	0.0397015428829253	0.14406	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.57	4.57	0.55860	2.159000	0.41965	4.847000	0.45339	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	12.017	0.52611	669	0.61081	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2154.98	34	chr6	117383444	.	T	C	2154.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=844;ExcessHet=0.0000;FS=2.763;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=-8.900e-01;SOR=0.945	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1232	20	0	1	0
chr6	117503884	117503884	G	A	exonic	DCBLD1	.	nonsynonymous SNV	DCBLD1:NM_001366458:exon2:c.G230A:p.G77E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	1.0	D	0.000	N	1.000	D	2.815	M	1.64	T	-0.695	T	0.168	T	0.873	4.149	21.4	4.35	1.572	7.293	14.392	0.527	0.0570685333418	.	.	1.648e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs755093205	8.893e-06	8.893e-06	9.529e-06	8.251e-06	9.892e-06	4.96e-06	3.82e-06	5.31e-06	3.88e-06	0	0	0	0	0	0	9.892e-06	3.312e-05	0	6.575e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.019	0.50132	D	0.0	0.92824	D	0.999	0.90584	D	0.919	0.97372	D	0.000001	0.84330	N	0.055712	0.997774	0.44180	D	3.02	0.86243	M	1.64	0.27822	T	-5.74	0.87687	D	0.793	0.79599	-0.6950	0.60675	T	0.168	0.50826	T	10	0.9320244	0.92538	D	0.057069	0.66835	D	0.527	0.80007	0.788	0.91068	0.563544018958	0.56017	0.5278652751054703	0.52710	0.907193985159	0.70892	0.638733506203	0.58384	T	0.198116	0.55500	T	0.166	0.70718	D	0.063742	0.74493	D	0.982298731803894	0.74407	D	0.810419	0.46176	T	0.593461	0.72338	0.6438594	0.79183	0.593461	0.72339	0.6438594	0.79184	-9.909	0.73690	D	.	.	0.191	0.40937	B	.;.	.;.	4.642911	0.73929	26.1	0.99746966779244461	0.83927	0.98153	0.80057	D	AEFBI	0.854035	0.77104	D	0.610342672782872	0.73828	6.030345	0.552707945257048	0.71585	5.677429	0.999999952811733	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.21	4.35	0.51454	7.729000	0.83815	8.591000	0.77687	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0711:0.0:0.9289:0.0	14.392	0.66554	714	0.56256	.;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	952.98	34	chr6	117503884	.	G	A	952.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.37;DP=827;ExcessHet=0.0000;FS=3.425;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.88;ReadPosRankSum=-6.260e-01;SOR=0.716	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1091	20	0	1	0
chr6	117545558	117545558	A	T	exonic	DCBLD1	.	nonsynonymous SNV	DCBLD1:NM_001366460:exon13:c.A1488T:p.R496S	.	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.0	B	0.001	B	0.008	N	1.000	N	0.695	N	1.39	T	-0.813	T	0.223	T	0.288	1.469	10.86	-1.49	-0.383	0.491	1.841	0.117	.	0.0002	0.00459265	0.0016	9.61e-05	0.0003	0.0103	0.0002	0.0003	0.0022	0.0047	0.0015782	244	154602	rs116943808	0.0008	0.0008	0.0006	0.0009	0.0117	0.0007	0.0007	0.0108	0.0105	0	0.0005	0	0.0117	9.363e-05	0.0009	0.0001	0.0013	0.0046	0.0008	0.0008	0.0008	0.0009	0.0137	0.0007	0.0007	0.0111	0.0102	4.811e-05	0	0.0007	0	0.0137	0	0.0034	0.0001	0.0028	0.0048	0.734	0.04120	T	0.377	0.16134	T	0.0	0.02946	B	0.001	0.04355	B	0.007779	0.31206	N	0.321251	1	0.08975	N	.	.	.	-2.74	0.90735	D	-0.7	0.19933	N	0.233	0.26233	-0.8128	0.54380	T	0.223	0.58678	T	10	0.0028616488	0.00046	T	.	.	.	0.117	0.32689	0.216	0.13643	0.66879460378	0.66600	0.09839727743343613	0.09770	0.208867292392	0.23351	0.377548485994	0.21908	T	0.005597	0.05051	T	-0.34961	0.04751	T	-0.263936	0.48430	T	0.00676785233265008	0.00076	T	0.581242	0.21111	T	0.036544368	0.04515	0.054580867	0.09415	0.036544368	0.04515	0.054580867	0.09414	-1.321	0.04604	T	.	.	0.091	0.18950	B	.;.	.;.	0.896118	0.12701	9.220	0.88392452955355039	0.17941	0.11049	0.16373	N	AEFBCI	0.086281	0.17493	N	-0.905734158961417	0.10707	0.5129736	-0.875304853091769	0.12681	0.6536939	0.999988897257857	0.51787	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.23	-1.49	0.08259	0.497000	0.22222	0.546000	0.19377	0.691000	0.84096	0.239000	0.24738	0.000000	0.08366	0.982000	0.59238	0.4777:0.1264:0.2741:0.1218	1.841	0.02958	793	0.45818	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1020.98	33	chr6	117545558	.	A	T	1020.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.05;DP=848;ExcessHet=0.0000;FS=0.779;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.86;ReadPosRankSum=-6.330e-01;SOR=0.820	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1235	20	0	1	0
chr6	118816260	118816260	G	A	exonic	MCM9	.	nonsynonymous SNV	MCM9:NM_001378366:exon11:c.C1724T:p.T575M	Ovarian dysgenesis 4, Autosomal recessive	.	430	1082	10	0	0	10	0.00459982	.	.	3398002	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.001	B	0.0	B	0.666	N	1.000	N	0	N	1.4	T	-0.958	T	0.013	T	0.241	2.118	13.04	-0.273	-0.066	0.041	3.743	0.089	.	.	0.00339457	0.0049	0.0034	0.0077	0.0021	0.0062	0.0063	0.0109	0.0035	0.0015977	247	154602	rs75607191	0.0080	0.0077	0.0082	0.0079	0.0093	0.0079	0.0079	0.0091	0.0091	0.0026	0.0029	0.0022	0.0017	0.0049	0.0016	0.0093	0.0074	0.0031	0.0057	0.0057	0.0059	0.0054	0.0086	0.0054	0.0052	0.0080	0.0078	0.0027	0	0.0035	0.0037	0.0039	0.0055	0	0.0086	0.0052	0.0033	0.035	0.43708	D	0.023	0.57104	D	0.001	0.07471	B	0.0	0.01387	B	0.666421	0.10381	N	0.853391	1	0.08975	N	.	.	.	1.4	0.33630	T	-0.84	0.22944	N	0.053	0.02462	-0.9581	0.39534	T	0.013	0.04843	T	10	0.004149258	0.00082	T	.	.	.	0.099	0.28413	.	.	0.320256813643	0.31633	0.30725911437981607	0.30638	0.123927475785	0.13947	0.179488107562	0.00089	T	0.077157	0.35589	T	-0.539637	0.00336	T	-0.538533	0.18440	T	0.0126444460694241	0.00212	T	0.581942	0.21082	T	0.040088743	0.05657	0.03386222	0.02353	0.04614843	0.07674	0.03386222	0.02353	-6.545	0.50633	T	.	.	0.079	0.10304	B	.;.	.;.	1.392080	0.18050	13.52	0.81215365544448126	0.13576	0.07522	0.13536	N	AEFBI	0.105012	0.20994	N	-0.728929134106233	0.15211	0.7646582	-0.808616265274746	0.14286	0.7457212	0.0705744822745053	0.15533	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	6.17	-0.273	0.12276	0.074000	0.14525	0.082000	0.14403	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0738:0.3051:0.2439:0.3773	3.743	0.08063	457	0.78953	.;.	.	.	.	.	rs75607191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1009.98	33	chr6	118816260	.	G	A	1009.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.03;ReadPosRankSum=3.05;SOR=0.607	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr6	118924037	118924037	C	T	exonic	MCM9	.	nonsynonymous SNV	MCM9:NM_001378356:exon3:c.G395A:p.R132Q	Ovarian dysgenesis 4, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.997	D	.	.	1.000	D	2.995	M	3.15	T	-1.022	T	0.076	T	0.92	5.409	34	5.48	2.562	5.452	19.353	0.430	0.0895607262279	.	0.000199681	7.413e-05	9.612e-05	0	0.0008	0	1.498e-05	0	0	0.0001229	19	154602	rs367896634	5.814e-05	5.814e-05	6.398e-05	5.225e-05	0.0006	4.809e-05	4.431e-05	0.0004	0.0003	0	6.708e-05	0	0.0006	0	0	1.169e-05	0.0008	0	8.536e-05	8.53e-05	0.0001	5.371e-05	0.0014	4.954e-05	3.96e-05	0.0006	0.0004	2.407e-05	0	0.0001	0	0.0014	0	0	1.47e-05	0.0009	0	0.0	0.91255	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	2.81	0.81869	M	3.15	0.07820	T	-3.81	0.71882	D	0.581	0.60664	-1.0225	0.22899	T	0.076	0.30645	T	9	0.45598632	0.58992	T	0.089561	0.75350	D	0.430	0.73662	0.788	0.91068	0.76190393038	0.75974	0.7251166702696283	0.72455	0.589894200002	0.54471	0.610629141331	0.54405	T	0.532988	0.83872	D	-0.00397439	0.51105	T	0.0865159	0.76013	D	0.888510942459106	0.53912	D	0.974802	0.91047	D	0.7238365	0.79375	0.6512525	0.79593	0.7238365	0.79377	0.6512525	0.79594	-12.265	0.86117	D	.	.	0.379	0.65951	A	.;.;.;.	.;.;.;.	4.962159	0.82058	27.7	0.99955486681095174	0.99975	0.99301	0.94181	D	AEFBI	0.606657	0.59691	D	0.853467274942053	0.89305	9.91746	0.800991422546826	0.89862	10.15304	0.999999985382488	0.74766	0.651	0.46895	0	0.615513	0.52658	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.48	5.48	0.80675	5.527000	0.66837	5.939000	0.51448	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	19.353	0.94387	494	0.76445	MCM OB domain;MCM OB domain;MCM OB domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2548.98	39	chr6	118924037	.	C	T	2548.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=1044;ExcessHet=0.0000;FS=2.114;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.73;ReadPosRankSum=-2.420e-01;SOR=0.847	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1352	20	0	1	0
chr6	118975984	118975984	T	C	exonic	FAM184A	.	nonsynonymous SNV	FAM184A:NM_001100411:exon12:c.A2156G:p.N719S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.003	B	0.013	B	0.043	N	1.000	D	1.61	L	2.58	T	-0.942	T	0.014	T	0.02	0.297	5.607	-2.89	-0.835	-0.182	10.866	0.051	0.00278515324792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382	0.11120	T	0.318	0.19246	T	0.003	0.11197	B	0.013	0.16460	B	0.043193	0.23764	N	0.474960	0.927997	0.27131	N	1.95	0.52479	M	2.52	0.21666	T	-0.23	0.12283	N	0.05	0.04913	-0.9420	0.42298	T	0.014	0.05705	T	10	0.02553171	0.00744	T	0.002785	0.05781	T	0.051	0.14325	0.135	0.03920	0.0482279557977	0.04254	0.05908708837999286	0.05848	0.114882793964	0.12965	0.255550801754	0.04375	T	0.004406	0.06247	T	-0.353972	0.04483	T	-0.746233	0.03635	T	0.0854333937168121	0.10667	T	0.854015	0.59977	D	0.031558435	0.03017	0.037560426	0.03434	0.031558435	0.03017	0.037560426	0.03434	-2.053	0.03388	T	.	.	0.052	0.00280	B	.;.;.;.;.;.	.;.;.;.;.;.	0.438904	0.08091	4.818	0.67561984020219845	0.08392	0.46201	0.27707	N	AEFI	0.133063	0.25259	N	-0.963977134281525	0.09381	0.4437643	-0.913070484706453	0.11784	0.6025158	2.59677408594814E-4	0.06190	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.21	-2.89	0.05326	-0.004000	0.12813	-0.255000	0.10474	-0.311000	0.06080	0.697000	0.28597	0.211000	0.23643	0.991000	0.66497	0.0:0.4317:0.0:0.5683	10.866	0.46063	612	0.66786	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	61.27	33	chr6	118975984	.	T	C	61.27	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.654e+00;DP=942;ExcessHet=0.6776;FS=108.073;InbreedingCoeff=-0.1017;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.28;ReadPosRankSum=1.59;SOR=9.553	GT:AD:DP:GQ:PL	0/0:35,10:45:29:0,29,633	17	0	4	0
chr6	121447059	121447059	C	T	exonic	GJA1	.	nonsynonymous SNV	GJA1:NM_000165:exon2:c.C212T:p.P71L,	Atrioventricular septal defect 3, Autosomal dominant;Craniometaphyseal dysplasia, autosomal recessive, Autosomal recessive;Erythrokeratodermia variabilis et progressiva, Autosomal recessive, Autosomal dominant;Hypoplastic left heart syndrome 1, Autosomal recessive;Oculodentodigital dysplasia, Autosomal dominant;Oculodentodigital dysplasia, autosomal recessive, Autosomal recessive;Palmoplantar keratoderma with congenital alopecia, Autosomal dominant;Syndactyly, type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.979	D	0.000	D	1.000	D	3.675	H	-6.06	D	1.005	D	0.990	D	0.981	5.163	32	5.5	2.585	7.776	19.394	0.987	0.80308488865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239606179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.996	0.68779	D	0.979	0.74454	D	0.000001	0.84330	D	0.056216	1	0.81001	D	3.78	0.95251	H	-6.06	0.99508	D	-9.07	0.98162	D	0.971	0.98167	1.005	0.97279	D	0.990	0.99708	D	10	0.99403095	0.99916	D	0.803085	0.98461	D	0.987	0.99952	0.919	0.98532	0.994030760964	0.99396	0.9872250244594228	0.98716	1.37094743363	0.84529	0.906715273857	0.97150	D	0.970283	0.99671	D	0.574507	0.96689	D	0.587463	0.96634	D	0.999196231365204	0.96500	D	0.992884	0.97691	D	0.9195683	0.93206	0.87427396	0.93162	0.9195683	0.93206	0.87427396	0.93162	-12.035	0.85021	D	0.9890895693287228	0.99721	0.989	0.93386	P	.;.;.;.;.	.;.;.;.;.	4.657418	0.74301	26.1	0.99822716601073314	0.90502	0.96185	0.67925	D	AEFBCI	0.924880	0.90358	D	0.980170025604979	0.95103	13.31133	0.902196331347405	0.95667	13.84618	0.999999999999998	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.5	5.5	0.81386	7.905000	0.86479	6.027000	0.52873	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	19.394	0.94589	605	0.67457	Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	204.13	35	chr6	121447059	.	C	T	204.13	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.840e+00;DP=1087;ExcessHet=0.1072;FS=47.181;InbreedingCoeff=-0.0497;MLEAC=2;MLEAF=0.048;MQ=56.94;MQRankSum=-1.301e+00;QD=0.88;ReadPosRankSum=0.762;SOR=7.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485	19	0	2	0
chr6	121447061	121447061	A	G	exonic	GJA1	.	nonsynonymous SNV	GJA1:NM_000165:exon2:c.A214G:p.I72V,	Atrioventricular septal defect 3, Autosomal dominant;Craniometaphyseal dysplasia, autosomal recessive, Autosomal recessive;Erythrokeratodermia variabilis et progressiva, Autosomal recessive, Autosomal dominant;Hypoplastic left heart syndrome 1, Autosomal recessive;Oculodentodigital dysplasia, Autosomal dominant;Oculodentodigital dysplasia, autosomal recessive, Autosomal recessive;Palmoplantar keratoderma with congenital alopecia, Autosomal dominant;Syndactyly, type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.908	P	0.669	P	0.001	N	1.000	D	1.625	L	-5.54	D	1.093	D	0.938	D	0.697	3.371	17.36	5.5	2.089	9.287	15.605	0.787	0.250974127698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.053e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.01	0.65728	D	0.908	0.50127	P	0.669	0.53077	P	0.001142	0.40056	N	0.240936	0.999999	0.58761	D	1.865	0.49290	L	-5.54	0.99184	D	-0.92	0.24676	N	0.498	0.53093	1.093	0.99378	D	0.938	0.97961	D	10	0.8795201	0.87257	D	0.250974	0.89113	D	0.787	0.92948	0.7	0.83684	0.943663086211	0.94307	0.8918822313251208	0.89158	0.856064958791	0.68761	0.738846123219	0.72803	T	0.763452	0.93610	D	0.34166	0.85945	D	0.252994	0.85761	D	0.803063251343763	0.46562	D	0.90391	0.66280	D	0.38390532	0.59598	0.3327721	0.59121	0.38390532	0.59598	0.3327721	0.59121	-6.188	0.47826	T	0.3332976928640002	0.43127	0.176	0.38426	B	.;.;.;.;.	.;.;.;.;.	3.909359	0.56999	23.8	0.99754698206370063	0.84537	0.97121	0.72812	D	AEFBCI	0.942640	0.94747	D	0.628616182966142	0.74992	6.227793	0.663610123529025	0.79629	7.123	0.999999999992006	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.5	5.5	0.81386	9.325000	0.96006	9.424000	0.80768	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	1.0:0.0:0.0:0.0	15.605	0.76411	605	0.67457	Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.075	265.87	35	chr6	121447061	.	A	G	265.87	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-3.521e+00;DP=1371;ExcessHet=0.3300;FS=52.366;InbreedingCoeff=-0.0947;MLEAC=2;MLEAF=0.050;MQ=56.91;MQRankSum=-1.531e+00;QD=0.76;ReadPosRankSum=1.02;SOR=8.249	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485	17	0	3	1
chr6	123438071	123438071	T	C	exonic	TRDN	.	nonsynonymous SNV	TRDN:NM_001251987:exon12:c.A1046G:p.E349G	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	933153	Catecholaminergic_polymorphic_ventricular_tachycardia_1|Cardiovascular_phenotype	MONDO:MONDO:0011484,MedGen:C1631597,OMIM:604772,Orphanet:3286|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.039	B	0.025	B	0.046	N	0.628	D	0.345	N	-0.29	T	-1.049	T	0.078	T	0.198	1.639	11.44	4.31	1.006	2.039	9.860	0.055	0.0200491416417	.	.	1.382e-05	0	0	0.0002	0	0	0	0	6.5e-06	1	154602	rs755708624	6.923e-06	8.893e-06	5.501e-06	8.364e-06	0.0004	3.5e-06	2.55e-06	6.173e-05	2.551e-05	0	0	0	2.544e-05	0	0.0004	4.523e-06	1.675e-05	1.215e-05	1.971e-05	1.97e-05	1.285e-05	2.689e-05	6.546e-05	5.24e-06	2.45e-06	.	.	2.413e-05	0	6.546e-05	0	0	0	0	0	0.0005	0	0.015	0.52492	D	0.041	0.50514	D	0.039	0.21116	B	0.025	0.20508	B	0.045531	0.23528	N	0.365054	0.999998	0.08975	N	0.55	0.14455	N	-0.29	0.67712	T	-2.04	0.46842	N	0.079	0.05414	-1.0493	0.14593	T	0.078	0.30982	T	10	0.1107997	0.20722	T	0.020049	0.42561	T	0.055	0.15663	0.246	0.18139	0.259761712551	0.25597	0.010322602181282283	0.00993	.	.	0.367878586054	0.20527	T	0.186283	0.53953	T	-0.129375	0.31597	T	-0.423615	0.30662	T	0.203846530413706	0.20626	T	0.457954	0.13172	T	0.13275544	0.30901	0.16471963	0.38143	0.13275544	0.30901	0.16471963	0.38142	-3.444	0.15656	T	0.22319322710986106	0.30123	0.094	0.14431	B	.	.	2.083215	0.26494	17.14	0.98495858822054272	0.42156	0.34250	0.25023	N	AEFBI	0.133544	0.25324	N	-0.532277520630635	0.21043	1.113848	-0.4286946567927	0.24159	1.32143	3.71349231208339E-4	0.06745	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	4.31	0.50718	2.264000	0.42959	1.875000	0.29413	0.665000	0.62972	0.686000	0.28494	0.931000	0.28545	0.972000	0.54974	0.0:0.0:0.1721:0.8279	9.860	0.40276	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1277.98	33	chr6	123438071	.	T	C	1277.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.325e+00;DP=784;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=-3.080e-01;SOR=0.730	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1231	20	0	1	0
chr6	125751842	125751842	C	T	exonic	HEY2	.	nonsynonymous SNV	HEY2:NM_012259:exon2:c.C125T:p.T42I,	.	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.998	D	0.994	D	0.001	N	1.000	D	1.795	L	0.09	T	-0.620	T	0.301	T	0.533	4.054	20.8	5.61	2.633	6.833	19.623	0.297	0.0378108215583	.	.	2.475e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs200628721	3.079e-05	3.078e-05	3.541e-05	2.613e-05	0.0010	2.348e-05	2.095e-05	0.0005	0.0003	2.988e-05	0	0	0	0	0.0010	5.398e-06	0.0002	0.0002	1.972e-05	1.97e-05	0	4.036e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.006	0.61437	D	0.022	0.57587	D	0.998	0.73220	D	0.994	0.82059	D	0.001172	0.39978	N	0.204155	1	0.81001	D	2.135	0.59519	M	0.09	0.61443	T	-3.15	0.64132	D	0.602	0.62018	-0.6203	0.63976	T	0.301	0.67251	T	10	0.7402562	0.74907	D	0.037811	0.57842	D	0.297	0.61730	0.193	0.10437	0.912738722043	0.91186	0.7321549358155495	0.73160	0.625337483367	0.56714	0.71794706583	0.69747	T	0.54676	0.84580	D	-0.180815	0.23614	T	-0.205356	0.54138	T	0.278660636509232	0.24115	T	0.883212	0.60517	D	0.20977649	0.43254	0.2537794	0.51032	0.20977649	0.43254	0.2537794	0.51031	-12.251	0.86052	D	.	.	0.486	0.63928	A	.	.	4.848507	0.79229	27.1	0.99904032503479989	0.97502	0.98654	0.85187	D	AEFDBCI	0.843083	0.76014	D	0.72202213305271	0.81075	7.438295	0.726890485909773	0.84420	8.287017	1.0	0.98316	0.608746	0.35421	0	0.610034	0.51514	0	0.731467	0.93227	0	0.616125	0.45549	0	.	.	5.61	5.61	0.85347	5.736000	0.68239	7.628000	0.62604	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.623	0.95663	909	0.22467	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	532.98	34	chr6	125751842	.	C	T	532.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.133e+00;DP=759;ExcessHet=0.0000;FS=0.948;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.51;ReadPosRankSum=-1.570e-01;SOR=0.941	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1134	20	0	1	0
chr6	125927739	125927739	C	T	exonic	NCOA7	.	nonsynonymous SNV	NCOA7:NM_001199622:exon4:c.C431T:p.T144I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.7	M	0.85	T	-0.374	T	0.322	T	0.721	4.078	21.0	5.8	2.744	3.418	20.071	0.310	0.0337695859575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.046049	0.999991	0.58761	D	2.645	0.77386	M	0.85	0.47130	T	-4.55	0.78553	D	0.593	0.61341	-0.3737	0.72848	T	0.322	0.69099	T	10	0.5296869	0.63112	D	0.03377	0.55213	D	0.310	0.63162	0.542	0.65446	0.110392049598	0.10638	0.7361813659560693	0.73563	0.493758875756	0.47968	0.727325379848	0.71116	T	0.326126	0.69677	T	0.0912494	0.63330	D	-0.106703	0.62872	T	0.981613278388977	0.74012	D	0.966203	0.94055	D	0.912213	0.92502	0.8593696	0.92136	0.912213	0.92503	0.8593696	0.92136	-7.026	0.57596	T	.	.	0.909	0.86127	P	.;.;.;.;.	.;.;.;.;.	4.862997	0.79599	27.1	0.99875501728492933	0.95244	0.87302	0.46800	D	AEFBCI	0.314837	0.41958	N	0.790928341836536	0.85532	8.604846	0.755157991166596	0.86543	8.92262	0.999999978872137	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	4.226000	0.58405	7.713000	0.66906	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.071	0.97721	817	0.41665	TLDc domain|TLDc domain;TLDc domain|TLDc domain;.;TLDc domain|TLDc domain;TLDc domain|TLDc domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	417.94	33	chr6	125927739	.	C	T	417.94	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-5.703e+00;DP=1966;ExcessHet=0.6776;FS=168.175;InbreedingCoeff=-0.1056;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.58;ReadPosRankSum=1.72;SOR=10.928	GT:AD:DP:GQ:PL	0/0:178,9:209:99:0,172,6280	17	0	4	0
chr6	127195854	127195854	A	T	exonic	RSPO3	.	nonsynonymous SNV	RSPO3:NM_032784:exon5:c.A666T:p.K222N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	T	0.197	B	0.039	B	0.112	N	0.998	N	0.805	L	-1.12	T	-0.971	T	0.078	T	0.28	1.440	10.76	0.585	0.376	1.203	5.403	0.099	0.0360977728686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.994e-07	6.84e-07	1.386e-06	0	9.116e-07	0	0	.	.	0	0	0	0	0	0	9.116e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.695	0.04251	T	0.496	0.20164	T	0.005	0.29559	B	0.005	0.23607	B	0.111983	0.19376	N	0.547506	0.997739	0.22531	N	0.895	0.22405	L	-1.12	0.77593	T	-0.8	0.23590	N	0.275	0.33140	-0.9709	0.37009	T	0.078	0.31042	T	10	0.07316971	0.11021	T	0.036098	0.56772	D	0.099	0.28413	0.282	0.23801	0.50343701615	0.49981	0.36914880106757464	0.36828	1.23549493298	0.81448	0.595363974571	0.52251	T	0.19108	0.54582	T	-0.0581563	0.43196	T	-0.321314	0.42431	T	0.261600226163864	0.23385	T	0.749925	0.37107	T	0.06996702	0.15373	0.051610723	0.08339	0.06996702	0.15373	0.051610723	0.08339	-4.562	0.32184	T	.	.	0.180	0.47016	B	.;.	.;.	3.066092	0.41192	21.3	0.99433680720632334	0.64374	0.51565	0.28925	D	AEFBI	0.133729	0.25349	N	-0.596298741707679	0.19056	0.9943863	-0.447491775338288	0.23619	1.28905	0.988748971421372	0.31614	0.706298	0.61202	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.65	0.585	0.16611	1.215000	0.32035	4.083000	0.41752	0.691000	0.84096	1.000000	0.71638	0.998000	0.33993	0.968000	0.53726	0.5708:0.1437:0.2855:0.0	5.403	0.15606	768	0.49510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	285.98	24	chr6	127195854	.	A	T	285.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.735e+00;DP=582;ExcessHet=0.0000;FS=2.020;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=-1.587e+00;SOR=0.252	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,832	20	0	1	0
chr6	127446642	127446642	A	C	exonic	KIAA0408	.	nonsynonymous SNV	KIAA0408:NM_014702:exon5:c.T1677G:p.N559K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.001	U	1.000	D	2.005	M	0.27	T	-0.664	T	0.222	T	0.255	3.753	19.06	0.131	0.034	2.312	9.063	0.247	0.0997182501646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.001123	0.40136	U	0.092489	0.994236	0.81001	D	2.685	0.78553	M	0.27	0.59176	T	-3.43	0.67359	D	0.792	0.78832	-0.6641	0.62095	T	0.222	0.58550	T	10	0.80159354	0.79553	D	0.099718	0.77154	D	0.247	0.55478	0.368	0.37687	0.803518760456	0.80168	0.4603785717966515	0.45955	0.373575902153	0.38826	0.724665105343	0.70727	T	0.413146	0.76710	T	-0.0433913	0.45444	T	-0.300105	0.44714	T	0.985144138336182	0.76226	D	0.756224	0.37950	T	0.44484502	0.63713	0.4005754	0.64590	0.44484502	0.63714	0.4005754	0.64590	-2.247	0.04275	T	.	.	0.962	0.88310	P	.	.	3.263189	0.44636	22.0	0.99661425961500238	0.77947	0.86659	0.45986	D	AEDBIJ	0.614028	0.60149	D	0.172526577128297	0.49883	3.183867	0.0874788172686515	0.43917	2.683668	0.994990000440113	0.33894	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	5.23	0.131	0.14055	2.357000	0.43779	1.937000	0.29806	-0.065000	0.16512	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.3161:0.0:0.6839:0.0	9.063	0.35608	621	0.65931	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2755.98	42	chr6	127446642	.	A	C	2755.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.920e-01;DP=895;ExcessHet=0.0000;FS=4.948;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.85;ReadPosRankSum=0.216;SOR=0.544	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1277	20	0	1	0
chr6	127447487	127447487	G	A	exonic	KIAA0408	.	nonsynonymous SNV	KIAA0408:NM_014702:exon5:c.C832T:p.P278S,	.	.	428	1081	13	0	0	13	0.00597701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.211	B	0.066	B	0.959	U	1.000	N	1.01	L	1.59	T	-0.974	T	0.017	T	0.14	-0.157	3.232	2.34	1.281	1.006	3.886	0.077	0.00904828938428	0.0005	0.000599042	0.0009	0	0.0008	0	0	0.0014	0.0033	0.0002	0.000815	126	154602	rs150477792	0.0007	0.0007	0.0007	0.0007	0.0194	0.0007	0.0007	0.0165	0.0154	0.0004	0.0013	0.0065	0	1.873e-05	0.0194	0.0005	0.0015	0.0004	0.0006	0.0006	0.0005	0.0007	0.0009	0.0005	0.0005	0.0005	0.0005	4.813e-05	0	0.0009	0.0063	0	0	0.0170	0.0007	0.0019	0.0004	0.501	0.07720	T	0.881	0.03214	T	0.211	0.29987	B	0.066	0.27432	B	0.958503	0.07702	U	1.030060	1	0.08975	N	2.035	0.55589	M	1.59	0.28836	T	-1.46	0.35792	N	0.137	0.13484	-0.9743	0.36279	T	0.017	0.06759	T	10	0.004621446	0.00096	T	0.009048	0.23821	T	0.077	0.22490	.	.	0.420199648628	0.41636	0.18951752712542627	0.18869	0.112745788299	0.12728	0.296030640602	0.09812	T	0.009084	0.08297	T	-0.528935	0.00390	T	-0.578106	0.14713	T	0.010993971066092	0.00158	T	0.691931	0.30130	T	0.03761667	0.04856	0.050876006	0.08074	0.03761667	0.04856	0.050876006	0.08074	-0.644	0.00679	T	.	.	0.116	0.23430	B	.	.	2.079500	0.26445	17.12	0.76688960896618308	0.11569	0.55637	0.29914	D	AEFBI	.	.	.	-0.464279178752332	0.23259	1.247724	-0.372429399614593	0.25822	1.42244	0.00891975921500554	0.11764	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.530356	0.10902	0	.	.	5.47	2.34	0.28071	1.288000	0.32901	3.466000	0.38548	0.676000	0.76740	0.834000	0.30193	1.000000	0.68203	0.951000	0.49849	0.0802:0.2089:0.4869:0.224	3.886	0.08604	619	0.66147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1111.98	42	chr6	127447487	.	G	A	1111.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.170e-01;DP=886;ExcessHet=0.0000;FS=6.241;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=-7.230e-01;SOR=0.327	GT:AD:DP:GQ:PL	0/0:83,0:83:99:0,120,1800	20	0	1	0
chr6	127475667	127475667	G	C	exonic	SOGA3	.	nonsynonymous SNV	SOGA3:NM_001012279:exon6:c.C2359G:p.R787G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.94	P	0.627	P	0.000	D	1.000	D	1.61	L	1.57	T	-1.109	T	0.072	T	0.945	3.302	17.09	5.27	2.476	5.077	15.325	0.258	0.0294779720707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.038	0.51421	D	0.94	0.52768	P	0.627	0.51631	P	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.87	0.49600	L	1.57	0.29342	T	-2.28	0.50830	N	0.848	0.84401	-1.1091	0.03148	T	0.072	0.29259	T	10	0.5849918	0.66060	D	0.029478	0.51979	D	0.258	0.56959	0.198	0.11110	0.220303561663	0.21668	0.9553684904354519	0.95521	.	.	0.809187352657	0.83368	D	0.093602	0.39246	T	0.200191	0.73909	D	0.0497839	0.73568	D	0.952574253082275	0.63824	D	0.922208	0.71716	D	0.73451984	0.79979	0.37964514	0.63015	0.73451984	0.79981	0.37964514	0.63015	-5.021	0.37067	T	.	.	0.869	0.80838	P	.;.	.;.	5.030521	0.83670	28.1	0.99782776199374856	0.86955	0.97867	0.77726	D	AEFDBI	0.856836	0.77413	D	0.524019855487875	0.68514	5.227696	0.55777498529191	0.71938	5.731989	0.999894269987856	0.45129	0.632932	0.41330	0	0.573888	0.26702	0	0.601832	0.32385	0	0.530356	0.10902	0	.	.	5.27	5.27	0.73797	5.169000	0.64823	6.588000	0.56017	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.8599:0.1401	15.325	0.73864	618	0.66225	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1297.98	34	chr6	127475667	.	G	C	1297.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=954;ExcessHet=0.0000;FS=7.002;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.91;ReadPosRankSum=-1.392e+00;SOR=1.106	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1110	20	0	1	0
chr6	129280072	129280072	C	T	exonic	LAMA2	.	nonsynonymous SNV	LAMA2:NM_000426:exon18:c.C2462T:p.T821M	Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive	YES	1	1515	6	0	0	6	0.00197628	.	.	172223	Congenital_muscular_dystrophy_due_to_partial_LAMA2_deficiency|Merosin_deficient_congenital_muscular_dystrophy|not_specified|Intellectual_disability|not_provided|LAMA2-related_muscular_dystrophy	MedGen:C1842898|MONDO:MONDO:0011925,MedGen:C1263858,OMIM:607855,Orphanet:258|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MedGen:C3661900|MONDO:MONDO:0100228,MedGen:C5679788	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	N	1.000	D	3.1	M	0.01	T	-0.061	T	0.405	T	0.414	3.111	16.39	3.96	0.780	3.574	12.755	0.537	0.534587470134	0.0024	0.000798722	0.0020	0.0005	0.0004	0.0007	0.0036	0.0028	0.0022	0.0013	0.0020246	313	154602	rs117422805	0.0024	0.0024	0.0024	0.0023	0.0026	0.0023	0.0023	0.0026	0.0025	0.0003	0.0008	0.0008	0.0012	0.0034	0.0017	0.0026	0.0018	0.0012	0.0017	0.0017	0.0018	0.0016	0.0026	0.0015	0.0014	0.0023	0.0022	0.0005	0.0011	0.0007	0.0006	0.0004	0.0036	0	0.0026	0.0005	0.0010	0.0	0.91255	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.000003	0.62929	N	0.059782	0.999949	0.51968	D	3.79	0.95329	H	0.01	0.62459	T	-4.52	0.78302	D	0.562	0.78832	-0.0613	0.80965	T	0.405	0.75508	T	10	0.055688918	0.06126	T	0.534587	0.95638	D	0.537	0.80605	.	.	0.846110259052	0.84463	0.3969284616517866	0.39607	0.468827387035	0.46213	0.300332546234	0.10450	T	0.061939	0.59930	T	-0.30263	0.08413	T	-0.207354	0.53948	T	0.0803849729750813	0.10036	T	0.779622	0.41374	T	0.7606475	0.81491	0.6352263	0.78706	0.67856455	0.76893	0.7139694	0.83121	-11.775	0.83737	D	0.7108184403532831	0.79101	0.139	0.30291	B	.;.;.	.;.;.	3.224412	0.43945	21.8	0.99795527719205557	0.88106	0.95066	0.63314	D	AEFGBI	0.562920	0.57032	D	0.330916226444623	0.57741	3.942723	0.244956140587324	0.52362	3.411625	0.993352472638288	0.33183	0.549168	0.22868	0	0.573888	0.26702	0	0.618467	0.43123	0	0.616125	0.45549	0	.	.	5.72	3.96	0.45097	3.643000	0.54109	0.861000	0.22228	-0.860000	0.02636	0.995000	0.38783	0.275000	0.24072	0.661000	0.32996	0.0:0.8665:0.0:0.1335	12.755	0.56701	808	0.43318	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	3386.98	33	chr6	129280072	.	C	T	3386.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.106;DP=972;ExcessHet=0.0000;FS=1.439;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=-7.700e-02;SOR=0.696	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr6	129315940	129315940	A	C	exonic	LAMA2	.	nonsynonymous SNV	LAMA2:NM_000426:exon26:c.A3914C:p.E1305A	Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive	.	3	1518	1	0	0	1	0.000329272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.992	D	0.911	D	0.000	D	1.000	D	1.355	L	1.28	T	-1.073	T	0.091	T	0.559	2.274	13.56	5.4	2.169	8.905	15.718	0.250	0.0203989777683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505	0.07619	T	.	.	.	0.991	0.64070	D	0.903	0.64103	P	0.000000	0.84330	D	0.052414	0.999987	0.54805	D	1.975	0.53506	M	1.28	0.35960	T	-1.7	0.40468	N	0.522	0.61511	-1.0727	0.08830	T	0.091	0.34765	T	10	0.4822521	0.60501	T	0.020399	0.42987	T	0.250	0.55888	0.624	0.75916	0.591496729656	0.58826	0.5642072691617266	0.56347	0.408498947633	0.41690	0.572437286377	0.49023	T	0.027508	0.34472	T	-0.0411517	0.45778	T	-0.296888	0.45053	T	0.958801805973053	0.65367	D	0.931007	0.74365	D	0.77534455	0.82369	0.6995639	0.82301	0.77534455	0.82371	0.6995639	0.82302	-5.356	0.40494	T	0.4703109063851091	0.55089	0.136	0.29615	B	.;.;.	.;.;.	4.668467	0.74591	26.2	0.97670078092111579	0.35247	0.99040	0.90348	D	AEFBI	0.863447	0.78199	D	0.579507800537866	0.71896	5.721228	0.61645052462553	0.76134	6.435381	0.999918774594531	0.45857	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.4	5.4	0.77957	8.863000	0.91893	11.284000	0.91844	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.718	0.77447	836	0.38045	Laminin IV|Laminin IV|Laminin IV;Laminin IV|Laminin IV|Laminin IV;Laminin IV|Laminin IV|Laminin IV	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2104.98	33	chr6	129315940	.	A	C	2104.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.713;DP=837;ExcessHet=0.0000;FS=3.082;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.48;ReadPosRankSum=-9.800e-02;SOR=0.969	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1167	20	0	1	0
chr6	129353336	129353336	C	T	exonic	LAMA2	.	nonsynonymous SNV	LAMA2:NM_000426:exon32:c.C4696T:p.R1566C	Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	954349	not_provided|LAMA2-related_muscular_dystrophy	MedGen:C3661900|MONDO:MONDO:0100228,MedGen:C5679788	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.18	T	0.18	B	0.079	B	0.000	D	1.000	D	1.445	L	0.01	T	-0.942	T	0.123	T	0.457	2.742	15.13	4.88	1.424	3.630	16.279	0.202	0.023691409546	.	.	4.122e-05	0	8.64e-05	0	0	1.5e-05	0	0.0002	4.53e-05	7	154602	rs777964192	3.694e-05	3.694e-05	2.859e-05	4.538e-05	0.0003	2.894e-05	2.592e-05	0.0002	0.0002	5.976e-05	2.236e-05	0	0	0	0.0002	1.349e-05	0.0002	0.0003	6.581e-05	6.57e-05	7.716e-05	5.392e-05	0.0002	3.522e-05	2.62e-05	6.292e-05	4.306e-05	0.0001	0	0	0	0	0	0.0032	2.941e-05	0	0.0002	0.026	0.46910	D	.	.	.	0.124	0.26825	B	0.028	0.21332	B	0.000001	0.84330	D	0.056936	0.999996	0.58761	D	0.72	0.18721	N	0.01	0.62459	T	-0.47	0.15178	N	0.39	0.46368	-0.9422	0.42266	T	0.123	0.42526	T	10	0.29599553	0.47166	T	0.023691	0.46661	T	0.202	0.48754	0.759	0.88811	0.565168447923	0.56179	0.5711101103547355	0.57039	0.125665507597	0.14166	0.412843644619	0.26851	T	0.014991	0.26110	T	-0.237048	0.15728	T	-0.28613	0.46174	T	0.0852709040045738	0.10647	T	0.907809	0.67374	D	0.19854833	0.41762	0.12992142	0.31229	0.19854833	0.41762	0.12992142	0.31229	-9.632	0.71678	D	0.13074796297542654	0.13784	0.314	0.54071	B	.;.;.	.;.;.	3.726023	0.53274	23.3	0.99788680619815417	0.87484	0.80758	0.40315	D	ALL	0.327814	0.42867	N	-0.0521834833809715	0.39505	2.33075	0.101505037874679	0.44626	2.740679	0.999999999999996	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.466023	0.07079	0	.	.	5.75	4.88	0.63131	3.664000	0.54263	5.928000	0.51272	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1334:0.8666:0.0:0.0	16.279	0.82485	839	0.37672	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2153.98	33	chr6	129353336	.	C	T	2153.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.502;DP=848;ExcessHet=0.0000;FS=0.601;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=-9.580e-01;SOR=0.754	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1285	20	0	1	0
chr6	129366325	129366325	G	A	exonic	LAMA2	.	nonsynonymous SNV	LAMA2:NM_000426:exon33:c.G4824A:p.M1608I	Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.0	B	0.002	B	0.006	N	1.000	N	0.46	N	3.36	T	-0.919	T	0.004	T	0.088	-1.204	0.070	-0.129	-0.272	1.088	8.772	0.076	0.00757570145102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	.	.	.	0.0	0.02946	B	0.002	0.06944	B	0.005747	0.32538	N	0.348338	0.999788	0.20372	N	0.77	0.19370	N	3.36	0.05918	T	0.38	0.03579	N	0.235	0.26717	-0.9186	0.45743	T	0.004	0.01159	T	10	0.15824193	0.29761	T	0.007576	0.20113	T	0.076	0.22200	0.65	0.78753	0.307966526162	0.30417	0.5865999351714781	0.58589	0.0983630218035	0.11110	0.425968110561	0.28656	T	0.01058	0.19809	T	-0.333266	0.05868	T	-0.71649	0.04967	T	0.0505828820168972	0.05602	T	0.742826	0.36203	T	0.059254076	0.12021	0.062887534	0.12375	0.059254076	0.12020	0.062887534	0.12375	-4.799	0.34580	T	0.09452242000594538	0.06335	0.116	0.23290	B	.;.;.	.;.;.	0.580574	0.09490	6.268	0.67603207996946668	0.08404	0.86254	0.45499	D	AEFBI	0.308442	0.41502	N	-0.643590529298337	0.17647	0.9098524	-0.543536658092092	0.20977	1.132671	0.00460885984960043	0.10636	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.05	-0.129	0.12843	0.969000	0.28967	0.884000	0.22419	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.751000	0.35822	0.0:0.3016:0.3431:0.3553	8.772	0.33897	886	0.28090	Laminin alpha, domain I;Laminin alpha, domain I;Laminin alpha, domain I	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	640.98	33	chr6	129366325	.	G	A	640.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.212e+00;DP=748;ExcessHet=0.0000;FS=1.037;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.34;ReadPosRankSum=-8.660e-01;SOR=0.896	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1173	20	0	1	0
chr6	130060102	130060102	G	A	exonic	L3MBTL3	.	nonsynonymous SNV	L3MBTL3:NM_001007102:exon9:c.G751A:p.E251K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.027	B	0.021	B	0.005	N	0.998	D	0.315	N	-1.91	D	-0.696	T	0.275	T	0.386	1.835	12.10	5.27	2.625	2.773	19.257	0.268	0.0441014772226	.	.	8.242e-06	0	0	0	0	0	0	6.06e-05	6.5e-06	1	154602	rs767826800	3.423e-06	7.525e-06	1.362e-06	5.504e-06	3.481e-05	1e-06	7.3e-07	9.25e-06	4.56e-06	2.988e-05	0	0	0	0	0	9e-07	0	3.481e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.36509	T	0.501	0.12884	T	0.005	0.19556	B	0.021	0.19346	B	0.005379	0.32858	N	0.322809	0.997802	0.44208	D	0.98	0.24916	L	-1.91	0.84701	D	-1.65	0.39503	N	0.491	0.54496	-0.6958	0.60638	T	0.275	0.64722	T	10	0.25545776	0.42938	T	0.044101	0.61323	D	0.268	0.58254	0.456	0.52102	0.749769619819	0.74751	0.4278859399197859	0.42705	0.58930391847	0.54438	0.699485778809	0.67069	T	0.150835	0.49049	T	-0.0207546	0.48746	T	-0.166959	0.57722	T	0.367696031629926	0.27708	T	0.962704	0.86103	D	0.21719113	0.44196	0.15825044	0.36964	0.21719113	0.44196	0.15825044	0.36963	-8.029	0.61832	D	.	.	0.265	0.51489	B	.;.;.;.;.;.	.;.;.;.;.;.	3.765650	0.54053	23.4	0.99785982987698474	0.87219	0.87390	0.46915	D	AEFBI	0.267207	0.38396	N	-0.29930602572367	0.29175	1.615605	-0.113434515138952	0.34848	2.009199	0.061614005908694	0.15237	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	3.158000	0.50422	11.887000	0.98989	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.844000	0.39860	0.0:0.0:1.0:0.0	19.257	0.93936	928	0.17405	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1110.98	34	chr6	130060102	.	G	A	1110.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=911;ExcessHet=0.0000;FS=0.693;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.18;ReadPosRankSum=0.203;SOR=0.813	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485	20	0	1	0
chr6	130104448	130104448	G	C	exonic	L3MBTL3	.	nonsynonymous SNV	L3MBTL3:NM_001007102:exon18:c.G1684C:p.E562Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.02	B	0.06	B	0.000	D	0.998	D	1.875	L	0.98	T	-1.092	T	0.075	T	0.396	3.444	17.66	6.02	2.865	7.139	17.457	0.095	0.00531181244567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.062e-07	6.841e-07	0	1.422e-06	1.323e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.323e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.09	0.40747	T	0.02	0.18235	B	0.06	0.26717	B	0.000003	0.62929	D	0.137170	0.99834	0.44796	D	1.64	0.41913	L	0.98	0.42122	T	-1.89	0.44094	N	0.294	0.36359	-1.0919	0.05223	T	0.075	0.30335	T	10	0.20402479	0.36578	T	0.005312	0.13587	T	0.095	0.27398	0.257	0.19845	0.510253608637	0.50666	0.4699442077555547	0.46913	0.352886121984	0.37108	0.526090800762	0.42484	T	0.254013	0.62461	T	-0.0703811	0.41265	T	-0.338874	0.40472	T	0.832054674625397	0.48691	D	0.858914	0.58094	D	0.18114188	0.39270	0.16718087	0.38582	0.18114188	0.39270	0.16718087	0.38582	-8.8	0.66400	D	.	.	0.310	0.53785	B	.;.;.;.;.;.	.;.;.;.;.;.	4.240062	0.64281	24.7	0.9975224330175031	0.84382	0.97578	0.75670	D	AEFBI	0.680794	0.64436	D	0.211503112975648	0.51757	3.354421	0.401366704915121	0.61648	4.368111	0.991459403478708	0.32494	0.732398	0.92422	0	0.633656	0.55848	0	0.653264	0.51672	0	0.727631	0.95156	0	.	.	6.02	6.02	0.97559	6.391000	0.73140	11.771000	0.95863	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.457	0.87504	934	0.15400	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	444.98	34	chr6	130104448	.	G	C	444.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.248;DP=811;ExcessHet=0.0000;FS=1.062;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.67;ReadPosRankSum=-6.470e-01;SOR=0.864	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1063	20	0	1	0
chr6	131169184	131169184	C	T	exonic	AKAP7	.	nonsynonymous SNV	AKAP7:NM_001376570:exon5:c.C500T:p.P167L	.	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.959	D	0.641	P	0.000	D	1.000	D	2.24	M	-0.01	T	-0.693	T	0.248	T	0.278	4.613	25.2	5.9	2.788	4.775	15.779	0.328	.	0.0063	0.00519169	0.0015	0.0165	0.0006	0	0	5.995e-05	0.0011	0	0.0014165	219	154602	rs115301121	0.0005	0.0005	0.0005	0.0004	0.0148	0.0004	0.0004	0.0137	0.0133	0.0148	0.0011	0	0	0	0.0019	3.327e-05	0.0010	8.115e-05	0.0045	0.0045	0.0049	0.0042	0.0159	0.0043	0.0041	0.0149	0.0145	0.0159	0	0.0012	0	0	0	0	7.351e-05	0.0019	0.0002	0.066	0.36113	T	0.006	0.70582	D	0.945	0.55135	P	0.641	0.52117	P	0.000021	0.62929	D	0.159801	0.999999	0.58761	D	2.655	0.77738	M	-0.01	0.62762	T	-3.59	0.69236	D	0.528	0.55713	-0.6930	0.60768	T	0.248	0.61681	T	10	0.014885068	0.00313	T	.	.	.	0.328	0.65026	.	.	0.934643433999	0.93397	0.5025769048239466	0.50179	0.219891131155	0.24531	0.462177664042	0.33609	T	0.035731	0.24023	T	-0.376963	0.03256	T	-0.301284	0.44589	T	0.0419289302349983	0.04043	T	0.905209	0.67067	D	0.5658736	0.70834	0.2626663	0.52061	0.5658736	0.70835	0.2626663	0.52060	-10.797	0.78532	D	.	.	0.155	0.38336	B	.;.	.;.	3.925211	0.57339	23.8	0.99836535575761709	0.91714	0.90695	0.52087	D	AEFI	0.661611	0.63177	D	0.635727966431153	0.75449	6.307652	0.667538004205111	0.79923	7.186107	0.98946821896574	0.31835	0.638212	0.43195	0	0.573888	0.26702	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.9	5.9	0.94952	5.203000	0.65009	4.842000	0.45294	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	15.779	0.78017	575	0.70088	Protein kinase A anchor protein, nuclear localisation signal domain;Protein kinase A anchor protein, nuclear localisation signal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1008.98	38	chr6	131169184	.	C	T	1008.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.242e+00;DP=816;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.30;ReadPosRankSum=-1.017e+00;SOR=0.702	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr6	131693564	131693564	C	T	exonic	ENPP3	.	nonsynonymous SNV	ENPP3:NM_005021:exon15:c.C1352T:p.A451V,	.	.	436	1082	4	0	0	4	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.96	D	0.764	P	0.000	D	1.000	D	2.17	M	-0.71	T	-0.285	T	0.358	T	0.325	3.616	18.40	5.8	2.730	3.076	12.881	0.399	0.0445526449192	.	.	3.295e-05	0	0	0	0	4.496e-05	0	6.057e-05	2.59e-05	4	154602	rs762082474	3.284e-05	3.283e-05	3.949e-05	2.613e-05	0.0005	2.544e-05	2.249e-05	0.0001	7.544e-05	0	0	0	0	0	0.0005	2.968e-05	4.969e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.023	0.48186	D	0.09	0.40267	T	0.96	0.55278	D	0.764	0.56591	P	0.000237	0.47286	D	0.146398	0.998695	0.45291	D	2.27	0.64531	M	-0.71	0.72889	T	-3.45	0.67589	D	0.565	0.58883	-0.2855	0.75391	T	0.358	0.72045	T	10	0.47347283	0.60003	T	0.044553	0.61547	D	0.399	0.71321	0.511	0.60846	0.784071616257	0.78207	0.8078388473886524	0.80738	0.110544938361	0.12480	0.519361793995	0.41537	T	0.296343	0.66898	T	-0.153753	0.27726	T	-0.278336	0.46973	T	0.868164837360382	0.51814	D	0.927007	0.73102	D	0.46151167	0.64765	0.23648003	0.48921	0.46151167	0.64765	0.23648003	0.48920	-8.433	0.63984	D	.	.	0.160	0.42022	B	.;.;.	.;.;.	4.037467	0.59751	24.1	0.99899527844550939	0.97199	0.86596	0.45909	D	AEFDBI	0.427788	0.49159	N	0.532557980882283	0.69028	5.299053	0.506557466790013	0.68431	5.218988	0.959939086127973	0.28457	0.487112	0.14033	0	0.59043	0.45803	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.8	5.8	0.92081	3.381000	0.52188	4.685000	0.44339	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.596000	0.31288	0.0:0.9218:0.0:0.0782	12.881	0.57410	872	0.31118	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2352.98	36	chr6	131693564	.	C	T	2352.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.498e+00;DP=855;ExcessHet=0.0000;FS=0.550;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=-8.980e-01;SOR=0.768	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1090	20	0	1	0
chr6	131708967	131708967	G	T	exonic	CTAGE9	.	nonsynonymous SNV	CTAGE9:NM_001145659:exon1:c.C2051A:p.A684D,	.	.	443	1074	5	0	0	5	0.00232234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.534	P	0.454	P	.	.	1.000	N	2.56	M	3.3	T	-1.010	T	0.015	T	0.135	0.388	6.107	.	.	2.556	.	0.062	0.00340753176538	.	0.000798722	0.0011	0	0.0008	0	0.0018	0.0015	0.0043	0.0006	0.0001537	4	26028	rs201531307	0.0015	0.0015	0.0015	0.0014	0.0017	0.0014	0.0014	0.0016	0.0016	0.0003	0.0007	0.0011	0	0.0016	0.0007	0.0017	0.0013	0.0005	0.0009	0.0009	0.0010	0.0008	0.0012	0.0007	0.0007	0.0010	0.0009	0.0002	0.0011	0.0005	0.0018	0	0.0016	0	0.0012	0	0.0007	0.025	0.47320	D	0.504	0.11041	T	0.534	0.37787	P	0.454	0.46241	P	.	.	.	.	1	0.08975	N	2.62	0.76659	M	3.3	0.06368	T	-1.44	0.35399	N	0.079	0.05414	-1.0099	0.26949	T	0.015	0.05849	T	6	0.012402415	0.00267	T	0.003408	0.07664	T	0.062	0.17934	.	.	0.170165803431	0.16609	0.1771966239042078	0.17638	.	.	0.593859434128	0.52039	T	0.008297	0.07627	T	-0.56256	0.00245	T	-0.621388	0.11078	T	0.0332211268031571	0.02508	T	0.724828	0.33863	T	0.34038988	0.56311	0.3060926	0.56635	0.34038988	0.56311	0.3060926	0.56634	-4.091	0.25157	T	.	.	0.155	0.34205	B	.	.	2.223972	0.28387	17.78	0.75495612256072586	0.11097	0.13080	0.17651	N	AEFI	0.059390	0.11214	N	-0.10563394280897	0.37146	2.15702	-0.255186150524458	0.29592	1.659196	7.69288211797132E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	1.717000	0.37612	-0.401000	0.09410	.	.	0.948000	0.32982	0.000000	0.08366	.	.	.	.	.	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1319.98	38	chr6	131708967	.	G	T	1319.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.250e-01;DP=813;ExcessHet=0.0000;FS=3.312;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=34.41;MQRankSum=-9.900e-01;QD=10.73;ReadPosRankSum=-1.490e-01;SOR=0.996	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr6	131709902	131709903	AT	-	exonic	CTAGE9	.	frameshift deletion	CTAGE9:NM_001145659:exon1:c.1115_1116del:p.Y372Ffs*2,	.	.	460	1061	1	0	0	1	0.000471032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	0.0013	0	0	0.0049	0.0031	0.0013	0.0043	0.0007	0.0003558	55	154602	rs527449117	0.0004	0.0004	0.0004	0.0004	0.0041	0.0004	0.0004	0.0036	0.0034	0	7.828e-05	0.0018	0.0041	0.0017	0.0005	0.0002	0.0007	0.0007	0.0006	0.0005	0.0005	0.0006	0.0042	0.0005	0.0004	0.0028	0.0024	4.912e-05	0	6.649e-05	0.0023	0.0042	0.0020	0	0.0003	0.0010	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2017.94	35	chr6	131709901	.	AAT	A	2017.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.095;DP=817;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=34.58;MQRankSum=0.431;QD=19.59;ReadPosRankSum=1.43;SOR=0.726	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1361	20	0	1	0
chr6	131884955	131884955	C	A	exonic	ENPP1	.	nonsynonymous SNV	ENPP1:NM_006208:exon23:c.C2336A:p.T779N,	Arterial calcification, generalized, of infancy, 1, Autosomal recessive;Cole disease, Autosomal dominant;Hypophosphatemic rickets, autosomal recessive, 2	.	1	1511	10	0	0	10	0.00329815	.	.	428520	Arterial_calcification,_generalized,_of_infancy,_1|Hypophosphatemic_rickets,_autosomal_recessive,_2|not_specified|ENPP1-related_disorder|not_provided	MONDO:MONDO:0008817,MedGen:C4551985,OMIM:208000,Orphanet:51608|MONDO:MONDO:0013219,MedGen:C2750078,OMIM:613312,Orphanet:289176|MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.08	T	0.91	P	0.689	P	0.433	N	1.000	N	2.42	M	-0.31	T	-0.883	T	0.211	T	0.237	2.742	15.13	1.7	0.842	0.237	4.462	0.185	0.0245535435166	0.0002	0.00139776	0.0010	9.614e-05	0.0003	0	0	0.0002	0.0022	0.0058	0.0008279	128	154602	rs200239821	0.0005	0.0005	0.0004	0.0007	0.0061	0.0005	0.0005	0.0057	0.0055	2.987e-05	0.0003	0.0002	2.52e-05	0	0.0026	0.0002	0.0006	0.0061	0.0004	0.0004	0.0003	0.0005	0.0050	0.0003	0.0003	0.0034	0.0029	2.406e-05	0	0.0003	0.0003	0	0	0	0.0004	0	0.0050	0.145	0.25154	T	0.613	0.07617	T	0.91	0.50240	P	0.689	0.53736	P	0.433422	0.12719	N	0.762914	1	0.08975	N	2.65	0.77586	M	-0.31	0.68030	T	-2.74	0.58248	D	0.411	0.45142	-0.8833	0.49497	T	0.211	0.57094	T	10	0.012332797	0.00265	T	0.024554	0.47547	T	0.185	0.45933	.	.	0.733563502752	0.73118	0.6520419703673228	0.65140	0.472247107215	0.46463	0.347620487213	0.17572	T	0.318532	0.68989	T	-0.407891	0.02053	T	-0.355933	0.38523	T	0.0838672315043058	0.10474	T	0.80472	0.45238	T	0.10048092	0.23725	0.11755571	0.28378	0.105115004	0.24851	0.11144083	0.26880	-7.702	0.59022	D	0.1819362267335076	0.23485	0.070	0.03301	B	.;.	.;.	2.378295	0.30526	18.46	0.9847300759697758	0.41884	0.12669	0.17409	N	AEFBI	0.122179	0.23721	N	0.123710445788398	0.47572	2.980933	0.0283881060863032	0.41039	2.458924	0.00348457779299174	0.10140	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.668105	0.65232	0	.	.	5.91	1.7	0.23359	0.161000	0.16298	-0.042000	0.12656	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.984000	0.60418	0.1511:0.484:0.0:0.3649	4.462	0.11090	824	0.40336	DNA/RNA non-specific endonuclease|Extracellular Endonuclease, subunit A|DNA/RNA non-specific endonuclease;DNA/RNA non-specific endonuclease|Extracellular Endonuclease, subunit A|DNA/RNA non-specific endonuclease	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1077.98	34	chr6	131884955	.	C	A	1077.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.389;DP=777;ExcessHet=0.0000;FS=4.032;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=0.516;SOR=1.154	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1261	20	0	1	0
chr6	132539221	132539221	A	G	exonic	TAAR9	.	nonsynonymous SNV	TAAR9:NM_175057:exon1:c.A932G:p.Y311C,	.	.	414	1106	2	0	0	2	0.000903342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	.	0.0003	0	0.0001	0	0	0.0005	0.0013	6.996e-05	0.0002329	36	154602	rs200407216	0.0006	0.0006	0.0007	0.0006	0.0014	0.0006	0.0006	0.0007	0.0007	2.993e-05	0.0004	0	0	1.877e-05	0.0014	0.0008	0.0004	5.826e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0002	0.0002	7.216e-05	0	0.0002	0	0	0	0.0034	0.0004	0.0005	0	.	.	.	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	.	.	.	4.79	0.99631	H	.	.	.	.	.	.	0.723	0.72477	.	.	.	.	.	.	.	0.7787037	0.77673	D	.	.	.	.	.	.	.	0.503498835695	0.49987	0.4643693624999804	0.46355	.	.	0.49833291769	0.38595	T	0.210432	0.57092	T	0.220045	0.75780	D	0.406264	0.92315	D	.	.	.	0.973753	0.90539	D	0.5436265	0.69600	0.63690436	0.78798	0.5436265	0.69601	0.63690436	0.78799	-11.439	0.82011	D	.	.	0.575	0.67852	P	.	.	3.929178	0.57419	23.9	0.99791861277404548	0.87750	0.99598	0.97841	D	AEBI	0.918573	0.88782	D	.	.	.	.	.	.	0.999984038548322	0.51787	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	.	.	5.28	5.28	0.74118	9.284000	0.95036	7.772000	0.68491	0.756000	0.94297	1.000000	0.71638	0.955000	0.29136	0.695000	0.33988	1.0:0.0:0.0:0.0	15.370	0.74274	886	0.28090	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1733.98	37	chr6	132539221	.	A	G	1733.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=948;ExcessHet=0.0000;FS=2.713;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.02;ReadPosRankSum=0.156;SOR=0.949	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr6	132553440	132553441	AA	-	exonic	TAAR8	.	frameshift deletion	TAAR8:NM_053278:exon1:c.748_749del:p.K250Efs*7,	.	.	431	1084	7	0	0	7	0.00321839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	0.00219649	0.0010	9.768e-05	0.0002	0.0009	0	0.0002	0.0011	0.0060	0.000461	12	26028	rs537864861	0.0005	0.0005	0.0003	0.0007	0.0060	0.0005	0.0004	0.0056	0.0054	0.0002	8.944e-05	7.652e-05	0.0005	1.872e-05	0.0024	0.0001	0.0006	0.0060	0.0004	0.0004	0.0002	0.0005	0.0062	0.0003	0.0003	0.0045	0.0039	0.0003	0	6.547e-05	0	0.0006	0	0	0.0001	0.0005	0.0062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2350.94	35	chr6	132553439	.	CAA	C	2350.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.414e+00;DP=850;ExcessHet=0.0000;FS=5.030;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.78;ReadPosRankSum=1.01;SOR=0.788	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,101,1161	20	0	1	0
chr6	132570536	132570536	C	T	exonic	TAAR6	.	nonsynonymous SNV	TAAR6:NM_175067:exon1:c.C215T:p.A72V,	.	.	419	1092	10	1	0	12	0.00546448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.001	B	0.01	B	0.389	N	0.999	N	0.965	L	-0.41	T	-1.037	T	0.072	T	0.152	0.804	8.226	2.99	0.580	0.329	3.351	0.027	0.0153724649248	0.0051	0.00299521	0.0047	0.0013	0.0027	0	0.0012	0.0066	0.0077	0.0047	0.0046701	722	154602	rs41298393	0.0063	0.0063	0.0064	0.0062	0.0071	0.0062	0.0062	0.0069	0.0069	0.0007	0.0026	0.0090	0	0.0018	0.0054	0.0071	0.0073	0.0050	0.0044	0.0044	0.0046	0.0042	0.0070	0.0041	0.0040	0.0065	0.0063	0.0013	0	0.0035	0.0136	0	0.0012	0	0.0070	0.0024	0.0052	0.127	0.27080	T	0.285	0.21343	T	0.001	0.07471	B	0.01	0.14941	B	0.388614	0.13288	N	0.647720	0.998759	0.21933	N	0.465	0.13073	N	-0.41	0.69413	T	-0.64	0.18670	N	0.272	0.30800	-1.0368	0.18295	T	0.072	0.29163	T	10	0.01765579	0.00378	T	0.015372	0.36062	T	0.027	0.05988	.	.	0.0551355673512	0.04727	0.03689239476168578	0.03636	0.0155995811599	0.01492	0.260868877172	0.04994	T	0.00793	0.07302	T	-0.467413	0.00883	T	-0.439056	0.28915	T	0.00931370389656971	0.00119	T	0.845715	0.52486	T	0.07378463	0.16511	0.11521737	0.27812	0.07378463	0.16511	0.11521737	0.27811	-5.116	0.38075	T	.	.	0.190	0.40762	B	.	.	1.334194	0.17395	13.14	0.9825706105384695	0.39630	0.04132	0.09612	N	AEFBI	0.044118	0.07058	N	-0.831328822167757	0.12514	0.6104714	-0.834485271784641	0.13661	0.7098724	0.0621001309442462	0.15252	0.446893	0.09132	0	0.563428	0.19063	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	4.84	2.99	0.33673	0.485000	0.22033	-3.300000	0.02895	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.4796:0.204:0.3164	3.351	0.06734	830	0.39242	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2406.98	34	chr6	132570536	.	C	T	2406.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.49;DP=959;ExcessHet=0.0000;FS=3.319;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.80;ReadPosRankSum=0.296;SOR=0.802	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1304	20	0	1	0
chr6	132588872	132588872	G	A	exonic	TAAR5	.	nonsynonymous SNV	TAAR5:NM_003967:exon1:c.C815T:p.T272M,	.	.	433	1086	2	1	0	4	0.00183824	.	.	710179	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.978	D	0.000	D	1.000	N	2.025	M	1.21	T	-0.908	T	0.169	T	0.378	1.879	12.24	5.47	2.847	1.898	19.510	0.165	.	0.0081	0.00758786	0.0024	0.0244	0.0011	0	0	0.0002	0	0.0002	0.0022445	347	154602	rs34746740	0.0012	0.0012	0.0013	0.0011	0.0307	0.0011	0.0011	0.0292	0.0285	0.0307	0.0016	0	0.0002	1.872e-05	0.0033	0.0004	0.0024	0.0004	0.0074	0.0074	0.0073	0.0076	0.0245	0.0071	0.0069	0.0232	0.0227	0.0245	0	0.0040	0	0	9.42e-05	0	0.0005	0.0080	0	0.003	0.68238	D	0.081	0.41742	T	1.0	0.90584	D	0.978	0.74104	D	0.000004	0.62929	D	0.000000	0.999994	0.08975	N	1.64	0.41913	L	1.21	0.37230	T	-2.46	0.53736	N	0.245	0.27673	-0.9083	0.47061	T	0.169	0.50858	T	10	0.005063206	0.00109	T	.	.	.	0.165	0.42395	.	.	0.533469874242	0.52997	0.5105206847410025	0.50974	0.0826956739839	0.09334	0.311906695366	0.12194	T	0.060944	0.31522	T	-0.462811	0.00944	T	-0.417976	0.31308	T	0.0464669412674094	0.04868	T	0.441056	0.12198	T	0.28672364	0.51687	0.32116142	0.58066	0.28672364	0.51686	0.32116142	0.58065	-6.776	0.52380	T	.	.	0.172	0.37727	B	.	.	3.801797	0.54779	23.5	0.99761766777191396	0.85091	0.33580	0.24862	N	AEFBI	0.099649	0.20054	N	0.369975211673695	0.59801	4.162706	0.259455566934099	0.53189	3.489108	0.994639708451559	0.33729	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.47	5.47	0.80345	1.158000	0.31347	2.446000	0.32792	-0.107000	0.15377	0.002000	0.15269	0.069000	0.22184	0.362000	0.25931	0.0:0.0:1.0:0.0	19.510	0.95131	864	0.32732	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1599.98	35	chr6	132588872	.	G	A	1599.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.294;DP=819;ExcessHet=0.0000;FS=0.694;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.03;ReadPosRankSum=1.09;SOR=0.614	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,111,1308	20	0	1	0
chr6	132645922	132645922	T	A	exonic	TAAR1	.	nonsynonymous SNV	TAAR1:NM_138327:exon2:c.A82T:p.S28C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.001	B	0.003	B	0.010	N	0.994	N	1.39	L	1.17	T	-1.022	T	0.025	T	0.228	0.961	8.920	1.15	0.365	0.843	4.392	0.047	0.00434220566516	.	0.000199681	0.0006	9.612e-05	0	0	0	0	0	0.0044	0.0004851	75	154602	rs558642256	0.0003	0.0003	0.0001	0.0004	0.0044	0.0002	0.0002	0.0041	0.0039	2.989e-05	0	0	0	0	0.0003	0	8.281e-05	0.0044	9.196e-05	9.187e-05	6.425e-05	0.0001	0.0029	5.526e-05	4.363e-05	0.0018	0.0014	0	0	0	0	0	0	0	0	0	0.0029	0.093	0.31532	T	0.133	0.34359	T	0.001	0.07471	B	0.003	0.08700	B	0.010081	0.30079	N	0.385192	0.994033	0.23600	N	2.075	0.57047	M	1.17	0.37910	T	-0.36	0.13035	N	0.251	0.28381	-1.0216	0.23195	T	0.025	0.10643	T	10	0.0058303475	0.00130	T	0.004342	0.10561	T	0.047	0.12962	0.45	0.51121	0.0666544352282	0.05500	0.2487779515162088	0.24791	0.010210312664	0.00941	0.270166099072	0.06162	T	0.047288	0.27679	T	-0.536753	0.00350	T	-0.543655	0.17939	T	0.0271558042313498	0.01566	T	0.559344	0.19537	T	0.067891024	0.14744	0.041430477	0.04708	0.067891024	0.14744	0.041430477	0.04707	-3.949	0.23038	T	.	.	0.069	0.03266	B	.	.	1.844090	0.23430	16.01	0.73885380587075677	0.10491	0.57604	0.30420	D	AEFI	0.101193	0.20330	N	-0.882203399392022	0.11266	0.5427603	-0.765844664317308	0.15334	0.8059197	1.33821126667441E-5	0.02871	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.51	1.15	0.19876	0.542000	0.22930	1.108000	0.24132	-0.795000	0.03215	0.259000	0.24939	0.861000	0.27489	0.930000	0.46718	0.2462:0.2037:0.0:0.5501	4.392	0.10777	888	0.27761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2476.98	40	chr6	132645922	.	T	A	2476.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.850;DP=973;ExcessHet=0.0000;FS=2.456;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=0.482;SOR=0.872	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr6	132713848	132713848	G	A	exonic	VNN1	.	nonsynonymous SNV	VNN1:NM_004666:exon1:c.C188T:p.A63V,	.	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.995	D	0.858	P	0.000	D	1.000	D	2.885	M	-2.71	D	0.586	D	0.807	D	0.627	3.526	18.00	5.38	2.536	4.660	17.910	0.568	0.0627516943582	0.0027	0.000399361	0.0015	0.0009	0.0013	0	0	0.0024	0.0011	6.061e-05	0.0015071	233	154602	rs45500693	0.0030	0.0030	0.0031	0.0029	0.0036	0.0029	0.0029	0.0035	0.0035	0.0007	0.0015	0.0001	2.519e-05	0.0001	0.0018	0.0036	0.0044	4.64e-05	0.0021	0.0021	0.0026	0.0015	0.0039	0.0019	0.0018	0.0035	0.0033	0.0004	0	0.0018	0.0003	0	0	0.0034	0.0039	0.0024	0	0.18	0.21968	T	0.848	0.03527	T	0.995	0.67487	D	0.858	0.61127	P	0.000001	0.84330	D	0.000000	0.999696	0.48338	D	3.23	0.89537	M	-2.71	0.90566	D	-2.6	0.55983	D	0.73	0.73105	0.586	0.91710	D	0.807	0.93468	D	10	0.127433	0.24234	T	0.062752	0.68752	D	0.568	0.82403	.	.	0.816748464161	0.81501	0.7735668601487828	0.77306	0.262288518951	0.28792	0.412644565105	0.26822	T	0.137088	0.46982	T	-0.110791	0.34638	T	0.0650298	0.74578	D	0.0760134607553482	0.09470	T	0.857914	0.54791	D	0.7128329	0.78763	0.6987635	0.82256	0.7128329	0.78765	0.6987635	0.82257	-7.949	0.60721	D	.	.	0.121	0.25000	B	.	.	4.943261	0.81600	27.6	0.99818655962279645	0.90150	0.83683	0.42784	D	ALL	0.723012	0.67276	D	0.525380649168869	0.68596	5.238935	0.43835317604288	0.63972	4.64214	0.999999999911807	0.74766	0.428477	0.06694	0	0.491513	0.07743	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.38	5.38	0.77279	6.580000	0.73930	5.713000	0.49433	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.085000	0.17524	0.0:0.0:1.0:0.0	17.910	0.88847	904	0.23766	Carbon-nitrogen hydrolase|Carbon-nitrogen hydrolase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1019.98	34	chr6	132713848	.	G	A	1019.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=810;ExcessHet=0.0000;FS=0.726;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.53;ReadPosRankSum=-5.480e-01;SOR=0.790	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1384	20	0	1	0
chr6	132726754	132726754	G	A	exonic	VNN3	.	nonsynonymous SNV	VNN3:NM_001368149:exon3:c.C23T:p.A8V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.000	U	1.000	D	.	.	-2.25	D	-0.864	T	0.167	T	0.584	2.640	14.79	3.52	0.731	4.956	11.094	0.669	.	.	0.000399361	0.0002	0	0	0	0	0.0001	0	0.0018	0.000207	32	154602	rs571816589	9.155e-05	9.371e-05	5.672e-05	0.0001	0.0011	7.855e-05	7.39e-05	0.0010	0.0009	0	0	0	0	5.696e-05	0	2.833e-05	5.082e-05	0.0011	0.0001	0.0001	0.0001	0.0002	0.0010	9.738e-05	8.253e-05	0.0004	0.0003	0	0	0	0	0	0	0	0.0002	0.0005	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0133334	0.81001	A	.	.	.	.	.	.	.	.	.	0.267	0.30233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.185447	0.22928	T	-0.0895984	0.64191	T	0.127325683832169	0.15132	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	2.410267	0.30976	18.60	0.98149367934244303	0.38672	0.95298	0.64178	D	AEFDGI	0.589391	0.58629	D	-0.166585184925574	0.34531	1.972129	-0.179868643329794	0.32278	1.834764	0.380108900451063	0.19953	0.497415	0.19182	0	0.491513	0.07743	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.31	3.52	0.39415	4.432000	0.59666	4.297000	0.42929	0.618000	0.50648	0.864000	0.30684	0.896000	0.27899	0.990000	0.65344	0.07:0.1291:0.8009:0.0	11.094	0.47355	902	0.24074	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1075.98	35	chr6	132726754	.	G	A	1075.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.477e+00;DP=799;ExcessHet=0.0000;FS=4.159;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=0.457;SOR=0.360	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1394	20	0	1	0
chr6	133889460	133889460	C	G	exonic	TCF21	.	nonsynonymous SNV	TCF21:NM_003206:exon1:c.C63G:p.D21E	.	.	413	1103	6	0	0	6	0.00271248	.	.	178172	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.74	T	0.145	B	0.032	B	0.001	D	0.996	D	1.1	L	-3.96	D	-0.414	T	0.497	T	0.111	0.113	4.609	0.582	-0.226	-0.423	4.084	0.228	.	0.0058	0.00319489	0.0057	0.0016	0.0035	0.0003	0.0029	0.0084	0.0033	0.0030	0.0060413	934	154602	rs61729591	0.0090	0.0090	0.0094	0.0086	0.0107	0.0088	0.0088	0.0105	0.0105	0.0012	0.0027	0.0029	0.0003	0.0052	0.0021	0.0107	0.0068	0.0029	0.0059	0.0059	0.0062	0.0056	0.0093	0.0056	0.0054	0.0087	0.0085	0.0025	0	0.0051	0.0040	0.0014	0.0032	0	0.0093	0.0057	0.0027	0.385	0.11015	T	0.603	0.07868	T	0.145	0.27759	B	0.032	0.22131	B	0.000604	0.42945	D	0.158475	0.996346	0.43151	D	0.55	0.14455	N	-3.96	0.96208	D	-0.44	0.14588	N	0.044	0.02088	-0.4144	0.71570	T	0.497	0.80941	T	10	0.0035883188	0.00065	T	.	.	.	0.228	0.52768	0.675	0.81299	0.57609285686	0.57278	0.12210557299167434	0.12137	0.655915216016	0.58620	0.416677057743	0.27380	T	0.155386	0.49710	T	-0.347389	0.04893	T	-0.259453	0.48880	T	0.00153725979355707	0.00015	T	0.581242	0.21054	T	0.041062005	0.05978	0.05931967	0.11114	0.041062005	0.05977	0.05931967	0.11114	-3.565	0.17353	T	.	.	0.082	0.08802	B	.;.	.;.	0.804201	0.11749	8.325	0.903352571463101	0.19600	0.38063	0.25903	N	AEFDBCIJ	0.519618	0.54482	D	-1.0153065045093	0.08286	0.3879572	-0.941706793286172	0.11116	0.5643476	0.999943783620815	0.47345	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	4.43	0.582	0.16594	-0.402000	0.07284	-1.891000	0.04543	-0.248000	0.07205	0.191000	0.24200	0.000000	0.08366	0.976000	0.56436	0.1606:0.3803:0.0:0.4591	4.084	0.09414	905	0.23532	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	734.98	35	chr6	133889460	.	C	G	734.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.378e+00;DP=819;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.66;ReadPosRankSum=0.959;SOR=0.612	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1393	20	0	1	0
chr6	134918678	134918678	G	T	exonic	ALDH8A1	.	nonsynonymous SNV	ALDH8A1:NM_001193480:exon6:c.C1051A:p.P351T	.	.	439	1067	16	0	0	16	0.00744186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.604	P	0.547	P	0.000	D	1.000	D	0.705	N	1.6	T	-0.514	T	0.224	T	0.521	2.898	15.66	2.85	1.482	1.775	13.479	0.298	0.0714911742485	0.0041	0.00139776	0.0051	0.0002	0.0010	0	0.0020	0.0084	0.0011	0.0019	0.0049935	772	154602	rs61731731	0.0055	0.0055	0.0055	0.0054	0.0066	0.0054	0.0054	0.0065	0.0064	0.0007	0.0012	0.0007	0	0.0035	0.0026	0.0066	0.0043	0.0018	0.0036	0.0036	0.0038	0.0033	0.0065	0.0033	0.0032	0.0060	0.0058	0.0008	0	0.0010	0	0	0.0030	0	0.0065	0.0043	0.0015	0.032	0.72154	D	0.033	0.53072	D	0.604	0.39417	P	0.363	0.43280	B	0.000141	0.49741	D	0.242834	0.999986	0.54805	D	1.11	0.28643	L	-1.0	0.76037	T	-6.21	0.90411	D	0.252	0.36464	-0.5144	0.68124	T	0.224	0.58869	T	10	0.013618439	0.00288	T	0.071491	0.71283	D	0.298	0.61843	.	.	0.780379905589	0.77835	0.7644261845423829	0.76390	0.323159786011	0.34483	0.373488128185	0.21330	T	0.44226	0.78649	T	-0.288356	0.09801	T	-0.181993	0.56339	T	0.0731636617424543	0.09088	T	0.946005	0.95043	D	0.59032226	0.72169	0.6018954	0.76868	0.59032226	0.72170	0.6018954	0.76869	-4.149	0.26009	T	.	.	0.153	0.39664	B	.;.;.;.	.;.;.;.	2.783712	0.36570	20.3	0.99734951687566986	0.83047	0.85687	0.44847	D	ALL	0.518365	0.54409	D	0.0299642111254581	0.43221	2.619337	0.102168638742454	0.44660	2.743402	0.986586276959072	0.31089	0.533608	0.22052	0	0.61073	0.52368	0	0.685742	0.62368	0	0.613276	0.41899	0	.	.	5.83	2.85	0.32333	1.861000	0.39078	6.184000	0.54674	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.501000	0.29039	0.0715:0.1674:0.7611:0.0	13.479	0.60777	870	0.31527	Aldehyde dehydrogenase domain;.;.;Aldehyde dehydrogenase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3002.98	34	chr6	134918678	.	G	T	3002.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.42;DP=1018;ExcessHet=0.0000;FS=9.948;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=0.969;SOR=0.952	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	20	0	1	0
chr6	134985382	134985382	A	G	exonic	HBS1L	.	nonsynonymous SNV	HBS1L:NM_001145158:exon11:c.T1325C:p.I442T	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.006	B	0.044	N	1.000	D	-0.42	N	1.63	T	-1.032	T	0.013	T	0.166	2.690	14.96	5.79	2.208	4.620	16.133	0.110	0.00292891383786	.	.	1.654e-05	0	0	0.0001	0	0	0	6.137e-05	1.29e-05	2	154602	rs144190026	6.187e-06	7.525e-06	4.105e-06	8.29e-06	7.611e-05	2.91e-06	2.11e-06	3.032e-05	2.062e-05	0	0	0	7.611e-05	0	0	0	0	7.061e-05	6.576e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.021	0.49613	D	0.049	0.48336	D	0.001	0.09854	B	0.002	0.12133	B	0.044014	0.23682	N	0.459802	0.953567	0.37836	D	0.665	0.16292	N	1.63	0.28002	T	-3.76	0.71276	D	0.193	0.26837	-1.0318	0.19873	T	0.013	0.05177	T	10	0.13205627	0.25135	T	0.002929	0.06221	T	0.110	0.31079	0.338	0.32816	0.128874641272	0.12493	0.5740971854401717	0.57338	0.205660221654	0.22987	0.313397109509	0.12421	T	0.212719	0.57384	T	-0.335018	0.05740	T	-0.5135	0.20955	T	0.309108555316925	0.25378	T	0.925307	0.72522	D	0.27452055	0.50517	0.2547868	0.51150	0.27452055	0.50517	0.2547868	0.51149	-7.756	0.59396	D	.	.	0.069	0.06205	B	.;.;.;.;.	.;.;.;.;.	3.542920	0.49765	22.8	0.99358963124059729	0.60904	0.92941	0.56925	D	AEFBI	0.437574	0.49732	N	-0.396330450868792	0.25599	1.390845	-0.120947854390645	0.34547	1.988423	0.999999990050883	0.74766	0.75658	0.98901	0	0.724815	0.89359	0	0.724815	0.87919	0	0.656636	0.63459	0	.	.	5.79	5.79	0.91751	4.581000	0.60661	8.006000	0.76170	0.756000	0.94297	0.993000	0.37899	0.990000	0.31317	0.936000	0.47498	1.0:0.0:0.0:0.0	16.133	0.81265	915	0.20917	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	610.98	35	chr6	134985382	.	A	G	610.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=740;ExcessHet=0.0000;FS=3.746;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.18;ReadPosRankSum=-1.313e+00;SOR=1.349	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1107	20	0	1	0
chr6	135193907	135193907	G	A	exonic	MYB	.	nonsynonymous SNV	MYB:NM_001130172:exon7:c.G832A:p.A278T	.	.	.	.	.	.	.	.	.	.	.	2425327	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	1.65	L	2.66	T	-0.934	T	0.129	T	0.57	5.023	29.6	5.1	2.367	7.822	18.509	0.303	0.0588537283763	.	.	6.593e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs769759766	5.497e-05	5.61e-05	5.199e-05	5.797e-05	0.0007	4.496e-05	4.165e-05	0.0002	0.0001	9.004e-05	0	7.67e-05	0	0	0.0007	5.695e-05	8.306e-05	3.483e-05	5.259e-05	5.254e-05	6.425e-05	4.038e-05	0.0002	2.558e-05	1.831e-05	1.972e-05	1.125e-05	7.243e-05	0	0	0	0	0	0	5.881e-05	0	0.0002	0.008	0.68238	D	0.485	0.53426	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.905	0.50856	L	2.66	0.33412	T	-2.32	0.51478	N	0.542	0.64903	-0.9342	0.43515	T	0.129	0.43807	T	10	0.47473508	0.60075	T	0.058854	0.67462	D	0.303	0.62400	0.538	0.64874	0.484951665652	0.48126	0.7351077485672409	0.73455	2.20439237927	0.95697	0.777692317963	0.78580	T	0.311302	0.86630	T	-0.190536	0.22179	T	-0.251789	0.49639	T	0.454390466213226	0.30958	T	0.915608	0.70605	D	0.2837577	0.51406	0.32309842	0.58244	0.2837577	0.51406	0.32309842	0.58243	-4.649	0.33681	T	.	.	0.223	0.59143	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.680941	0.74909	26.2	0.99911508515255554	0.98095	0.98752	0.86398	D	AEFBI	0.905118	0.85624	D	0.72371423986025	0.81186	7.463779	0.711378369282018	0.83244	7.970875	0.999999999999673	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.564101	0.26826	0	.	.	5.1	5.1	0.68917	7.940000	0.87153	11.806000	0.96793	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.706000	0.34326	0.0:0.0:1.0:0.0	18.509	0.90857	788	0.46569	Transcription regulator Wos2-domain;.;Transcription regulator Wos2-domain;Transcription regulator Wos2-domain;.;Transcription regulator Wos2-domain;Transcription regulator Wos2-domain;Transcription regulator Wos2-domain;.;.;.;.;.;Transcription regulator Wos2-domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1038.98	33	chr6	135193907	.	G	A	1038.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.419;DP=758;ExcessHet=0.0000;FS=3.025;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=1.41;SOR=0.395	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1217	20	0	1	0
chr6	135318527	135318527	G	A	exonic	AHI1	.	nonsynonymous SNV	AHI1:NM_001134830:exon24:c.C3418T:p.P1140S	Joubert syndrome-3, Autosomal recessive	.	0	1510	12	0	0	12	0.00395778	.	.	212518	not_specified|not_provided|Joubert_syndrome_3|Intellectual_disability|Familial_aplasia_of_the_vermis	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012078,MedGen:C1837713,OMIM:608629,Orphanet:220493|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.72	T	0.0	B	0.0	B	0.279	N	0.998	N	0	N	0.5	T	-1.094	T	0.033	T	0.213	-1.094	0.149	-7.2	-1.534	-0.747	10.319	0.120	0.00650288920072	0.0004	0.000599042	0.0006	0	0.0004	0	0	0.0012	0.0023	0.0001	0.000414	64	154602	rs201148693	0.0006	0.0006	0.0006	0.0006	0.0045	0.0006	0.0006	0.0032	0.0027	0.0002	0.0003	3.915e-05	0	0	0.0045	0.0007	0.0008	0.0002	0.0003	0.0003	0.0003	0.0004	0.0006	0.0003	0.0002	0.0004	0.0003	9.628e-05	0	0.0004	0	0	0	0.0034	0.0005	0.0005	0.0006	0.479	0.08261	T	0.63	0.07196	T	0.0	0.02946	B	0.0	0.01387	B	0.279159	0.03822	N	1.510780	1	0.08975	N	0.205	0.09354	N	0.5	0.55608	T	-0.83	0.22727	N	0.082	0.05929	-1.0939	0.04914	T	0.033	0.13986	T	10	0.0077154934	0.00175	T	0.006503	0.17129	T	0.120	0.33359	.	.	0.141422826196	0.13715	0.258895103634333	0.25803	0.0419560013884	0.04514	0.256762444973	0.04513	T	0.092154	0.38945	T	-0.543651	0.00318	T	-0.55986	0.16390	T	0.00786599189586697	0.00092	T	0.492651	0.15191	T	0.017409606	0.00270	0.033326175	0.02208	0.019890152	0.00530	0.033309903	0.02205	-3.032	0.10530	T	.	.	0.064	0.01622	B	.;.;.	.;.;.	-0.133289	0.03447	0.635	0.28779562652994067	0.01494	0.11183	0.16464	N	AEFDBCI	0.043903	0.06998	N	-1.50319662682461	0.01829	0.08017732	-1.5158115935974	0.02222	0.1018837	0.999987440767777	0.51787	0.638212	0.43195	0	0.588066	0.40923	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.22	-7.2	0.01345	-0.597000	0.05809	-0.025000	0.12872	-0.127000	0.13314	0.835000	0.30208	0.045000	0.21693	0.055000	0.15596	0.7279:0.0:0.167:0.1052	10.319	0.42935	434	0.80536	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.02381	1959.98	45	chr6	135318527	.	G	A	1959.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=923;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.31;ReadPosRankSum=-1.250e-01;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1485	20	0	1	0
chr6	135466046	135466046	C	T	exonic	AHI1	.	nonsynonymous SNV	AHI1:NM_001134830:exon5:c.G517A:p.A173T	Joubert syndrome-3, Autosomal recessive	.	0	1490	32	0	0	32	0.0106242	.	.	177234	Joubert_syndrome_3|Familial_aplasia_of_the_vermis|not_provided|not_specified	MONDO:MONDO:0012078,MedGen:C1837713,OMIM:608629,Orphanet:220493|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.3	T	0.041	B	0.016	B	0.350	N	1.000	N	1.7	L	0.97	T	-0.981	T	0.038	T	0.153	2.475	14.24	-1.17	-0.091	0.101	10.234	0.034	.	0.0024	0.00199681	0.0040	0.0003	0.0009	0	0.0183	0.0048	0.0067	0.0012	0.0035381	547	154602	rs146416468	0.0029	0.0029	0.0028	0.0031	0.0102	0.0029	0.0028	0.0081	0.0074	0.0004	0.0015	0.0027	2.519e-05	0.0172	0.0102	0.0025	0.0034	0.0014	0.0034	0.0034	0.0029	0.0039	0.0036	0.0031	0.0030	0.0032	0.0031	0.0004	0	0.0031	0.0017	0.0004	0.0175	0.0034	0.0036	0.0033	0.0006	0.557	0.08164	T	0.571	0.08777	T	0.024	0.21357	B	0.007	0.17743	B	0.349557	0.13837	N	0.683391	1	0.08975	N	0.97	0.24054	L	0.97	0.46028	T	-0.39	0.19509	N	0.14	0.14196	-0.9809	0.34794	T	0.038	0.16419	T	10	0.002779305	0.00044	T	.	.	.	0.034	0.08419	.	.	0.319402600006	0.31557	0.05295309781210487	0.05237	0.041224094407	0.04422	0.231245547533	0.02061	T	0.084978	0.37400	T	-0.578793	0.00196	T	-0.604693	0.12419	T	0.000556088640586092	0.00005	T	0.632437	0.24680	T	0.01957443	0.00490	0.038915798	0.03866	0.018655028	0.00388	0.034103762	0.02417	-2.811	0.08285	T	0.08063772157935094	0.04087	0.067	0.09191	B	.;.;.;.;.	.;.;.;.;.	0.217389	0.06002	2.443	0.94834020952696385	0.25617	0.02745	0.07425	N	AEFDGBI	0.028825	0.02611	N	-1.04044411238044	0.07777	0.3623858	-1.09415928708865	0.07814	0.3816261	0.999987952091224	0.51787	0.638212	0.43195	0	0.633563	0.54681	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.49	-1.17	0.09152	0.154000	0.16160	-0.179000	0.11150	-0.850000	0.02721	0.019000	0.19563	0.000000	0.08366	0.015000	0.10482	0.0:0.3766:0.0:0.6234	10.234	0.42450	692	0.58729	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2743.98	34	chr6	135466046	.	C	T	2743.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.203;DP=909;ExcessHet=0.0000;FS=3.226;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=-4.770e-01;SOR=0.924	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,102,1530	20	0	1	0
chr6	137002249	137002249	T	C	exonic	IL20RA	.	nonsynonymous SNV	IL20RA:NM_001278723:exon6:c.A638G:p.H213R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.418	B	0.053	B	0.165	N	1.000	N	0.69	N	2.03	T	-1.091	T	0.039	T	0.032	1.346	10.42	-4.73	-0.452	0.421	8.615	0.029	0.0108436757943	.	0.000798722	2.488e-05	0.0003	0	0	0	0	0	0	4.53e-05	7	154602	rs200346796	9.577e-06	9.577e-06	1.089e-05	8.251e-06	0.0001	5.56e-06	4.35e-06	5.849e-05	3.758e-05	0.0001	0	0	0	0	0	8.993e-07	4.967e-05	5.797e-05	2.626e-05	2.624e-05	2.57e-05	2.686e-05	9.624e-05	8.14e-06	5.14e-06	3.243e-05	1.91e-05	9.624e-05	0	0	0	0	0	0	0	0	0	0.362	0.12187	T	0.365	0.16914	T	0.091	0.35279	B	0.024	0.25678	B	0.165461	0.03071	N	1.607530	1	0.08975	N	1.15	0.29295	L	0.3	0.58755	T	-0.6	0.18459	N	0.037	0.01421	-1.0915	0.05286	T	0.039	0.16935	T	10	0.01686582	0.00357	T	0.010844	0.27831	T	0.029	0.06676	0.274	0.22528	0.599614719723	0.59642	0.25616726827266856	0.25530	0.331651304066	0.35233	0.267986148596	0.05880	T	0.012782	0.11175	T	-0.504996	0.00536	T	-0.683733	0.06758	T	0.0230344810300038	0.01027	T	0.619338	0.23774	T	0.03692505	0.04635	0.039972864	0.04213	0.03692505	0.04634	0.039972864	0.04213	-3.497	0.17067	T	.	.	0.075	0.06756	B	.;.;.	.;.;.	0.779471	0.11495	8.097	0.60121414936983952	0.06387	0.14185	0.18268	N	AEFBI	0.135773	0.25622	N	-1.03646312733567	0.07855	0.3663551	-1.10418030775699	0.07620	0.3713618	0.999976780380861	0.50053	0.497415	0.19182	0	0.59043	0.45803	0	0.507148	0.09336	0	0.651492	0.60203	0	.	.	5.88	-4.73	0.03022	-0.311000	0.08164	0.132000	0.15059	0.665000	0.62972	0.000000	0.06391	0.013000	0.20296	0.560000	0.30412	0.1896:0.0:0.4169:0.3935	8.615	0.32990	850	0.35610	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	893.98	54	chr6	137002249	.	T	C	893.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.015e+00;DP=884;ExcessHet=0.0000;FS=1.663;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.41;ReadPosRankSum=-7.630e-01;SOR=0.614	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1156	20	0	1	0
chr6	137161710	137161710	A	C	exonic	IL22RA2	.	nonsynonymous SNV	IL22RA2:NM_052962:exon2:c.T40G:p.F14V	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.003	B	0.005	B	0.310	N	1.000	N	1.355	L	-0.75	T	-1.049	T	0.102	T	0.13	1.862	12.18	-6.36	-1.302	-0.844	7.658	0.121	.	0.0002	0.00259585	0.0027	0.0003	0.0131	0.0181	0	0.0001	0.0011	0.0004	0.0023027	356	154602	rs147016715	0.0008	0.0008	0.0009	0.0007	0.0140	0.0008	0.0008	0.0130	0.0126	0.0001	0.0119	0.0005	0.0140	0	0.0002	1.799e-05	0.0009	0.0004	0.0011	0.0011	0.0010	0.0013	0.0135	0.0010	0.0010	0.0110	0.0100	0.0001	0	0.0056	0.0003	0.0135	0	0	7.351e-05	0.0024	0.0006	0.407	0.12714	T	0.325	0.18903	T	0.001	0.11197	B	0.003	0.11217	B	0.310221	0.04010	N	1.416160	1	0.08975	N	1.3	0.32576	L	-0.75	0.73311	T	0.19	0.04947	N	0.088	0.06587	-1.0494	0.14565	T	0.102	0.37819	T	10	0.0033814013	0.00059	T	.	.	.	0.121	0.33580	.	.	0.107399877778	0.10242	0.14060482328278712	0.13983	0.0110260002501	0.01025	0.270983994007	0.06270	T	0.014835	0.12555	T	-0.540822	0.00331	T	-0.536004	0.18690	T	0.00118877102816471	0.00012	T	0.475652	0.14239	T	0.041880738	0.06248	0.051515583	0.08307	0.041880738	0.06248	0.051515583	0.08307	-3.062	0.10865	T	.	.	0.054	0.03698	B	.;.;.	.;.;.	-0.191125	0.03136	0.504	0.85248567834554168	0.15776	0.02684	0.07317	N	AEFDGBI	0.095169	0.19232	N	-1.18159869328023	0.05278	0.2402457	-1.27296108999951	0.04799	0.2272579	0.999999925516192	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.16	-6.36	0.01796	-0.846000	0.04444	-0.980000	0.06715	-0.048000	0.17318	0.000000	0.06391	0.000000	0.08366	0.680000	0.33542	0.3203:0.1578:0.5219:0.0	7.658	0.27555	704	0.57414	.;Fibronectin type III;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	971.98	35	chr6	137161710	.	A	C	971.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.106;DP=837;ExcessHet=0.0000;FS=0.733;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.53;ReadPosRankSum=0.447;SOR=0.784	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1155	20	0	1	0
chr6	138107216	138107216	C	A	exonic	PERP	.	nonsynonymous SNV	PERP:NM_022121:exon1:c.G125T:p.G42V,	.	.	417	1104	1	0	0	1	0.000452694	.	.	710195	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.33	T	0.0	B	0.0	B	0.411	N	1.000	N	-1.1	N	-2.65	D	-0.807	T	0.115	T	0.051	0.744	7.945	-8.3	-2.135	-1.018	0.636	0.161	.	0.0081	0.00878594	0.0022	0.0258	0.0017	0	0	9.673e-05	0.0012	6.159e-05	0.0022251	344	154602	rs78795891	0.0010	0.0010	0.0011	0.0009	0.0303	0.0010	0.0010	0.0288	0.0282	0.0303	0.0017	0	0	0	0.0021	0.0001	0.0039	0.0001	0.0085	0.0085	0.0084	0.0086	0.0290	0.0081	0.0079	0.0276	0.0271	0.0290	0	0.0041	0	0	0	0.0034	0.0001	0.0061	0	0.604	0.05567	T	0.385	0.15746	T	0.0	0.02946	B	0.0	0.01387	B	0.411002	0.04591	N	1.425340	1	0.08975	N	-1.32	0.00691	N	-2.65	0.90210	D	0.9	0.01618	N	0.077	0.05162	-0.8074	0.54706	T	0.115	0.40853	T	10	0.0025757253	0.00039	T	.	.	.	0.161	0.41658	.	.	0.245101548738	0.24120	0.5085539055989529	0.50777	0.649092464659	0.58234	0.314414143562	0.12574	T	0.332493	0.70245	T	-0.526833	0.00401	T	-0.507906	0.21530	T	0.00683783218699652	0.00077	T	0.0653935	0.00475	T	0.03744832	0.04802	0.045964997	0.06303	0.03744832	0.04801	0.045964997	0.06302	-2.37	0.04952	T	.	.	0.046	0.00061	B	.	.	-0.734474	0.01243	0.063	0.56154178181448566	0.05492	0.01351	0.04634	N	AEFDGBHCI	0.076662	0.15428	N	-2.08293082102024	0.00139	0.005970792	-2.12330199545274	0.00166	0.007284807	0.999999999999998	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.15	-8.3	0.00881	-0.843000	0.04457	-0.450000	0.09105	-1.430000	0.01117	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.2448:0.3017:0.1552:0.2983	0.636	0.00750	899	0.25060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1322.98	35	chr6	138107216	.	C	A	1322.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.031e+00;DP=854;ExcessHet=0.0000;FS=0.644;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.87;ReadPosRankSum=-6.910e-01;SOR=0.604	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr6	138321170	138321170	G	A	exonic	ARFGEF3	.	nonsynonymous SNV	ARFGEF3:NM_020340:exon29:c.G4711A:p.A1571T,	.	.	433	1078	11	0	0	11	0.00507614	.	.	721743	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.13	T	0.269	B	0.048	B	0.001	D	0.598	D	1.1	L	0.99	T	-1.063	T	0.053	T	0.423	2.339	13.78	5.67	2.649	4.458	17.946	0.075	.	.	0.00599042	0.0064	0	0	0.0313	0	0.0002	0.0034	0.0171	0.0020181	312	154602	rs3736706	0.0015	0.0015	0.0012	0.0018	0.0238	0.0014	0.0014	0.0225	0.0220	0	0	0	0.0238	1.992e-05	0.0009	0.0001	0.0011	0.0129	0.0008	0.0008	0.0006	0.0011	0.0125	0.0007	0.0007	0.0099	0.0090	7.221e-05	0	0	0	0.0100	0	0	0.0002	0.0005	0.0125	0.07	0.35349	T	0.025	0.56192	D	0.269	0.31731	B	0.048	0.24975	B	0.000845	0.41440	D	0.240000	0.597641	0.32510	D	1.79	0.46772	L	0.99	0.41750	T	-0.61	0.18042	N	0.385	0.42639	-1.0634	0.10926	T	0.053	0.22462	T	10	0.012219518	0.00264	T	.	.	.	0.075	0.21907	.	.	0.357630699053	0.35373	0.20091090986243756	0.20008	0.2888234695	0.31292	0.602076053619	0.53197	T	0.056351	0.30264	T	-0.419934	0.01712	T	-0.364951	0.37479	T	0.0312439744637887	0.02185	T	0.881012	0.60027	D	0.06531595	0.13945	0.10524582	0.25295	0.06531595	0.13945	0.10524582	0.25295	-3.901	0.22318	T	.	.	0.083	0.09045	B	.	.	3.697331	0.52717	23.3	0.99044790541331051	0.51118	0.94451	0.61208	D	AEFBI	0.376173	0.46042	N	-0.095714094316099	0.37579	2.188426	-0.00199161014524374	0.39626	2.352356	0.95703963230451	0.28281	0.732398	0.92422	0	0.59043	0.45803	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.67	5.67	0.87673	4.541000	0.60381	11.856000	0.98202	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.775000	0.36711	0.0:0.0:1.0:0.0	17.946	0.88958	943	0.12886	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	604.98	36	chr6	138321170	.	G	A	604.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.724e+00;DP=761;ExcessHet=0.0000;FS=3.840;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.20;ReadPosRankSum=1.08;SOR=1.099	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr6	138404520	138404520	C	T	exonic	HEBP2	.	nonsynonymous SNV	HEBP2:NM_001326381:exon1:c.C25T:p.P9S	.	.	444	1067	11	0	0	11	0.00512821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.0	B	0.0	B	0.489	N	1.000	N	1.39	L	1.98	T	-0.995	T	0.011	T	0.064	1.263	10.12	1.03	-0.037	-0.194	2.552	0.011	.	.	0.000998403	0.0114	0	0	0	.	0.0577	.	0.0037	0.0004592	71	154602	rs534012762	0.0057	0.0049	0.0059	0.0056	0.0063	0.0056	0.0056	0.0062	0.0061	0.0009	0.0014	0.0073	3.705e-05	0.0015	0.0059	0.0063	0.0052	0.0028	0.0036	0.0036	0.0038	0.0034	0.0048	0.0034	0.0033	0.0044	0.0042	0.0012	0.0833	0.0022	0.0063	0	0.0024	0.0034	0.0048	0.0019	0.0029	0.331	0.13088	T	0.535	0.11586	T	0.0	0.02946	B	0.0	0.01387	B	0.488886	0.05024	N	1.355200	1	0.08975	N	0.69	0.16971	N	.	.	.	0.23	0.04613	N	0.081	0.06454	-0.9953	0.31218	T	0.011	0.04181	T	10	0.0024902225	0.00037	T	.	.	.	0.011	0.01250	.	.	0.0401082797425	0.02173	0.4642122900808919	0.46340	0.0449599093349	0.04864	0.670815944672	0.62954	T	0.008932	0.08161	T	-0.620581	0.00109	T	-0.665036	0.07931	T	0.0324723263188649	0.02384	T	0.430757	0.11694	T	0.023709381	0.01135	0.050705973	0.08014	0.023709381	0.01135	0.050705973	0.08013	-3.704	0.19377	T	.	.	0.076	0.05890	B	.;.	.;.	0.255849	0.06345	2.809	0.90006153036151082	0.19296	0.02469	0.06929	N	ALL	0.035778	0.04661	N	-1.34913558973648	0.03134	0.1395019	-1.37821957523217	0.03485	0.1626643	0.999999971033769	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.92	1.03	0.19161	-0.105000	0.10876	0.131000	0.15046	-0.295000	0.06246	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.1702:0.5046:0.2109:0.1143	2.552	0.04462	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	486.98	27	chr6	138404520	.	C	T	486.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=563;ExcessHet=0.0000;FS=2.087;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.04;ReadPosRankSum=1.23;SOR=0.202	GT:AD:DP:GQ:PL	0/0:24,0:24:72:0,72,750	20	0	1	0
chr6	138413032	138413032	A	C	exonic	HEBP2	.	nonsynonymous SNV	HEBP2:NM_001326380:exon4:c.A605C:p.E202A	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.275	M	-0.44	T	0.219	D	0.508	D	0.966	4.356	23.0	5.6	2.133	6.051	13.308	0.707	0.0168836605748	0.0015	0.000399361	0.0018	0.0004	0.0008	0	0.0033	0.0024	0	0.0013	0.0018823	291	154602	rs14812	0.0025	0.0025	0.0026	0.0024	0.0028	0.0024	0.0024	0.0027	0.0027	0.0006	0.0009	0.0001	0	0.0039	0.0003	0.0028	0.0022	0.0012	0.0020	0.0020	0.0019	0.0020	0.0029	0.0018	0.0017	0.0026	0.0025	0.0006	0	0.0019	0.0003	0	0.0032	0	0.0029	0.0014	0.0019	.	.	.	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999958	0.81001	D	3.88	0.95983	H	.	.	.	.	.	.	0.902	0.90251	0.219	0.86232	D	0.508	0.81483	D	10	0.14442793	0.27409	T	0.016884	0.38341	T	.	.	.	.	0.305086939656	0.30112	0.9356647979281093	0.93546	0.319439637697	0.34141	0.54482448101	0.45127	T	0.313244	0.68501	T	0.151101	0.69371	D	0.446189	0.93480	D	0.158058207786306	0.17727	T	0.815518	0.47040	T	0.9221307	0.93455	0.83937836	0.90797	0.9221307	0.93456	0.83937836	0.90797	-12.919	0.89026	D	.	.	0.881	0.81543	P	.	.	5.019571	0.83409	28.0	0.99671579316789449	0.78652	0.96786	0.70931	D	AEFBI	0.767157	0.70311	D	0.858684891959273	0.89598	10.03743	0.796180671322718	0.89527	10.01144	0.999999886308125	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.741806	0.99463	0	.	.	5.6	5.6	0.84997	6.299000	0.72744	11.246000	0.90584	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.308	0.59800	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1176.98	36	chr6	138413032	.	A	C	1176.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.51;DP=797;ExcessHet=0.0000;FS=0.863;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.53;ReadPosRankSum=-4.920e-01;SOR=0.580	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1358	20	0	1	0
chr6	138432084	138432084	G	C	exonic	NHSL1	.	nonsynonymous SNV	NHSL1:NM_020464:exon5:c.C2273G:p.P758R	.	.	429	1086	7	0	0	7	0.00321248	.	.	2820732	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.993	D	0.878	P	0.000	D	1.000	D	1.995	M	1.64	T	-0.929	T	0.129	T	0.415	3.176	16.63	5.25	2.454	7.525	13.174	0.201	0.0145111183151	.	0.00179712	0.0032	0	0	0	0	0.0005	0	0.0075	0.0005304	82	154602	rs138276881	0.0007	0.0007	0.0005	0.0010	0.0081	0.0007	0.0007	0.0075	0.0073	6.33e-05	0.0003	0	2.798e-05	0	0.0033	0.0003	0.0008	0.0081	0.0005	0.0005	0.0004	0.0006	0.0093	0.0004	0.0004	0.0072	0.0064	2.405e-05	0	0.0003	0	0	0	0.0068	0.0003	0.0005	0.0093	0.013	0.54683	D	0.079	0.42086	T	0.993	0.65571	D	0.878	0.62312	P	0.000077	0.52346	D	0.132386	0.999646	0.48019	D	2.91	0.84121	M	1.16	0.38073	T	-4.78	0.80510	D	0.37	0.41162	-0.9291	0.44270	T	0.129	0.43726	T	10	0.007284969	0.00166	T	0.014511	0.34674	T	0.201	0.48592	.	.	0.231873229951	0.22792	0.17891690152936426	0.17810	.	.	0.393936961889	0.24222	T	0.094766	0.39483	T	-0.345096	0.05043	T	-0.263777	0.48445	T	0.183028155804875	0.19424	T	0.865513	0.57479	D	0.21879137	0.44395	0.2890722	0.54926	0.21879137	0.44395	0.2890722	0.54925	-5.916	0.45571	T	.	.	0.234	0.50572	B	.;.	.;.	4.397426	0.67920	25.2	0.99843194641176625	0.92316	0.99091	0.91093	D	AEFDBI	0.902680	0.85086	D	0.686859147772298	0.78771	6.939236	0.649816011252659	0.78596	6.908374	0.999999999951225	0.74766	0.744818	0.98587	0	0.54472	0.11627	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	7.647000	0.82624	9.950000	0.82721	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.936000	0.47498	0.0765:0.0:0.9235:0.0	13.174	0.59037	892	0.26670	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	986.98	46	chr6	138432084	.	G	C	986.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=1225;ExcessHet=0.0000;FS=1.612;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.22;ReadPosRankSum=0.457;SOR=0.510	GT:AD:DP:GQ:PL	0/0:71,0:71:99:0,120,1800	20	0	1	0
chr6	138432919	138432919	C	T	exonic	NHSL1	.	nonsynonymous SNV	NHSL1:NM_020464:exon5:c.G1438A:p.A480T	.	.	427	1058	36	1	0	38	0.0176416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.0	B	0.0	B	0.868	N	1.000	N	-0.345	N	1.76	T	-1.030	T	0.007	T	0.037	2.041	12.78	-9.77	-3.554	-0.683	1.197	0.030	.	0.0074	0.00539137	0.0102	0.0009	0.0025	0	0.0037	0.0107	0.0083	0.0147	0.0031177	482	154602	rs150185209	0.0099	0.0094	0.0096	0.0101	0.0143	0.0097	0.0097	0.0136	0.0133	0.0021	0.0067	0.0112	2.798e-05	0.0034	0.0125	0.0104	0.0101	0.0143	0.0068	0.0068	0.0074	0.0061	0.0110	0.0064	0.0063	0.0099	0.0096	0.0019	0.0022	0.0064	0.0115	0	0.0015	0.0034	0.0105	0.0128	0.0110	0.38	0.13349	T	0.413	0.17064	T	0.0	0.02946	B	0.0	0.01387	B	0.867846	0.07157	N	1.059210	1	0.08975	N	0	0.06538	N	1.28	0.35960	T	0.15	0.05310	N	0.043	0.04913	-1.0299	0.20487	T	0.007	0.02439	T	10	0.0028977394	0.00046	T	.	.	.	0.030	0.07022	.	.	0.0138822411134	0.00435	0.0740470037905874	0.07341	.	.	0.252881109715	0.04077	T	0.003267	0.02667	T	-0.711784	0.00031	T	-0.783529	0.02348	T	0.00590756167066298	0.00065	T	0.256474	0.04006	T	0.023594005	0.01112	0.031968772	0.01862	0.023594005	0.01112	0.031968772	0.01862	-3.324	0.14537	T	.	.	0.068	0.02927	B	.;.	.;.	-1.418430	0.00347	0.006	0.76993707213963181	0.11693	0.02514	0.07011	N	AEFDBI	0.039203	0.05662	N	-2.21372838507277	0.00071	0.003053304	-2.28566539880462	0.00071	0.003139627	0.999999979122478	0.74766	0.706548	0.73137	0	0.546412	0.12157	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.88	-9.77	0.00416	-1.424000	0.02554	-2.938000	0.03211	-1.568000	0.00938	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.296:0.0896:0.2469:0.3675	1.197	0.01763	892	0.26670	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1903.98	51	chr6	138432919	.	C	T	1903.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.363e+00;DP=1486;ExcessHet=0.0000;FS=3.308;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.74;ReadPosRankSum=0.214;SOR=0.736	GT:AD:DP:GQ:PL	0/0:75,0:75:99:0,120,1800	20	0	1	0
chr6	138473353	138473353	G	A	exonic	NHSL1	.	nonsynonymous SNV	NHSL1:NM_001144060:exon3:c.C292T:p.P98S	.	.	430	1082	10	0	0	10	0.00459982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.001	B	0.003	B	0.013	N	0.979	N	0.935	L	1.75	T	-1.007	T	0.016	T	0.148	0.932	8.796	1.12	0.668	0.910	1.042	0.054	0.00383156465049	0.0037	0.00119808	0.0020	0.0009	0	0	0	0.0035	0.0042	0.0013	0.0006921	107	154602	rs201780864	0.0031	0.0030	0.0031	0.0030	0.0093	0.0030	0.0030	0.0073	0.0066	0.0004	0.0025	0.0024	0	0.0007	0.0093	0.0035	0.0041	0.0012	0.0023	0.0023	0.0024	0.0022	0.0034	0.0021	0.0020	0.0030	0.0029	0.0010	0.0099	0.0027	0.0023	0	0.0005	0.0136	0.0034	0.0033	0.0012	0.215	0.21801	T	0.548	0.10785	T	0.001	0.07471	B	0.002	0.08700	B	0.012534	0.29142	N	0.390782	0.979379	0.25186	N	1.4	0.35362	L	1.23	0.36872	T	-2.62	0.63207	D	0.06	0.13055	-1.0072	0.27789	T	0.016	0.06664	T	10	0.0033589303	0.00058	T	0.003832	0.08961	T	0.054	0.15330	.	.	0.0401082797425	0.02173	0.14422849197835866	0.14345	.	.	0.292442917824	0.09278	T	0.011375	0.29960	T	-0.541817	0.00327	T	-0.55411	0.16933	T	0.0191748720763091	0.00624	T	0.662834	0.28519	T	0.028806757	0.02275	0.052949004	0.08825	0.028806757	0.02275	0.052949004	0.08825	-1.247	0.01829	T	.	.	0.072	0.04436	B	.;.;.;.	.;.;.;.	0.726152	0.10952	7.618	0.67345597212008468	0.08327	0.61867	0.31610	D	AEFBI	0.067178	0.13194	N	-0.710262116777375	0.15732	0.7954531	-0.593022865051781	0.19673	1.05663	0.767519204967811	0.23613	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.13	1.12	0.19700	0.810000	0.26841	1.735000	0.28356	-0.718000	0.03832	1.000000	0.71638	0.983000	0.30585	0.033000	0.13494	0.2696:0.1535:0.4184:0.1585	1.042	0.01463	883	0.28872	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1683.98	131	chr6	138473353	.	G	A	1683.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=845;ExcessHet=0.0000;FS=5.324;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.85;ReadPosRankSum=-1.648e+00;SOR=0.379	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1181	20	0	1	0
chr6	138882870	138882878	AGGTAAATG	-	exonic	ECT2L	.	frameshift deletion	ECT2L:NM_001195037:exon15:c.2027_2028del:p.K676Mfs*16	.	.	433	1071	16	2	0	20	0.00925069	.	.	137736	not_specified	MedGen:CN169374	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	0.0225639	0.0084	0.0006	0.0017	0.0398	0.0015	0.0023	0.0068	0.0292	0.005033	131	26028	rs554645676	0.0058	0.0059	0.0048	0.0068	0.0419	0.0057	0.0057	0.0402	0.0395	0.0007	0.0019	0.0052	0.0419	0.0020	0.0062	0.0028	0.0075	0.0339	0.0051	0.0051	0.0048	0.0055	0.0523	0.0048	0.0047	0.0472	0.0452	0.0012	0	0.0024	0.0046	0.0523	0.0015	0.0102	0.0028	0.0085	0.0373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1794.94	35	chr6	138882869	.	AAGGTAAATG	A	1794.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.720e-01;DP=821;ExcessHet=0.0000;FS=8.177;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.60;ReadPosRankSum=0.144;SOR=1.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485	20	0	1	0
chr6	138902527	138902527	G	A	exonic	ECT2L	.	nonsynonymous SNV	ECT2L:NM_001195037:exon21:c.G2615A:p.G872D	.	.	.	.	.	.	.	.	.	.	.	137743	not_specified	MedGen:CN169374	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0.06	T	0.36	B	0.181	B	0.056	U	0.886	N	1.95	M	-1.08	T	-0.756	T	0.227	T	0.391	3.205	16.73	3.97	1.486	2.502	8.665	0.429	0.0494243736423	8.5e-05	0.000399361	0.0002	0	0	0	0	5.999e-05	0	0.0010	0.0001423	22	154602	rs374898524	7.802e-05	7.798e-05	4.086e-05	0.0001	0.0008	6.602e-05	6.145e-05	0.0006	0.0006	0	0	0	0	0	0	3.598e-05	0.0001	0.0008	3.286e-05	3.281e-05	1.286e-05	5.377e-05	0.0010	1.261e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.019	0.50132	D	0.021	0.58089	D	0.246	0.31102	B	0.088	0.29688	B	0.055815	0.22612	U	0.151356	0.886201	0.35853	D	2.735	0.79925	M	-1.08	0.77078	T	-2.22	0.49846	N	0.256	0.29313	-0.7561	0.57615	T	0.227	0.59183	T	10	0.031805366	0.01320	T	0.049424	0.63806	D	0.429	0.73590	.	.	0.494974121195	0.49132	0.7260063479511304	0.72544	0.5077257055	0.48953	0.531446397305	0.43238	T	0.006867	0.06296	T	-0.255702	0.13407	T	-0.199267	0.54716	T	0.140178270412515	0.16291	T	0.759024	0.38317	T	0.14111915	0.32531	0.22907582	0.47968	0.14111915	0.32531	0.22907582	0.47967	-12.193	0.85778	D	.	.	0.377	0.61224	A	.;.;.	.;.;.	4.197509	0.63317	24.6	0.99713010266898583	0.81493	0.82876	0.42046	D	AEFBI	0.376285	0.46049	N	0.0909327191421509	0.46040	2.850676	0.19228865124707	0.49422	3.145706	0.00807116817054869	0.11605	0.475973	0.10046	0	0.601575	0.49859	0	0.572659	0.19721	0	0.714379	0.83352	0	.	.	5.85	3.97	0.45241	2.555000	0.45515	5.647000	0.49169	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0815:0.1527:0.7658:0.0	8.665	0.33276	918	0.19598	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1273.98	33	chr6	138902527	.	G	A	1273.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.807;DP=825;ExcessHet=0.0000;FS=2.228;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.51;ReadPosRankSum=1.22;SOR=0.946	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1440	20	0	1	0
chr6	138911287	138911287	G	A	exonic	REPS1	.	nonsynonymous SNV	REPS1:NM_001286612:exon14:c.C1783T:p.P595S	.	.	428	1086	7	1	0	9	0.00412655	.	.	626156	Neurodegeneration_with_brain_iron_accumulation_7|not_provided|REPS1-related_disorder	MONDO:MONDO:0054763,MedGen:C4693583,OMIM:617916|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.71	T	0.546	P	0.225	B	0.002	N	1.000	D	-0.345	N	1.56	T	-1.036	T	0.018	T	0.63	2.447	14.14	5.35	2.785	5.852	17.418	0.178	0.0117638402873	0.0015	0.00119808	0.0013	0.0003	0.0009	0	0	0.0021	0.0022	0.0003	0.0013066	202	154602	rs144226246	0.0016	0.0016	0.0016	0.0017	0.0040	0.0016	0.0015	0.0027	0.0023	0.0003	0.0017	0.0113	0	0.0001	0.0040	0.0016	0.0023	0.0005	0.0012	0.0012	0.0012	0.0012	0.0014	0.0010	0.0010	0.0011	0.0010	0.0003	0.0011	0.0012	0.0141	0	0	0.0068	0.0014	0.0005	0.0008	0.107	0.29554	T	0.344	0.18732	T	0.03	0.38028	B	0.013	0.38015	B	0.001765	0.38052	N	0.268813	0.979802	0.81001	D	-0.205	0.04094	N	1.56	0.30669	T	-1.39	0.42191	N	0.479	0.56833	-1.0361	0.18513	T	0.018	0.07470	T	10	0.00639382	0.00145	T	0.011764	0.29704	T	0.178	0.44724	.	.	0.20808081866	0.20439	0.08486331132841375	0.08420	0.254390484647	0.28010	0.470694065094	0.34776	T	0.214761	0.57643	T	-0.357278	0.04286	T	-0.304996	0.44194	T	0.0186419217957266	0.00578	T	0.884611	0.60805	D	0.07976423	0.18239	0.07931246	0.17843	0.08661737	0.20138	0.07794004	0.17409	-2.957	0.10052	T	0.1393074874601666	0.15491	0.067	0.04806	B	.;.;.;.;.	.;.;.;.;.	3.364269	0.46465	22.3	0.98620663450897494	0.43771	0.98695	0.85684	D	AEFBI	0.676370	0.64143	D	-0.167214858411733	0.34505	1.970286	0.0765075659218673	0.43369	2.640152	0.999177448897513	0.38651	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.35	5.35	0.76297	4.382000	0.59360	8.694000	0.78086	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	17.418	0.87399	919	0.19497	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1096.98	35	chr6	138911287	.	G	A	1096.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.263e+00;DP=763;ExcessHet=0.0000;FS=0.934;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.24;ReadPosRankSum=-7.040e-01;SOR=0.889	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1101	20	0	1	0
chr6	139242800	139242800	G	A	exonic	TXLNB	.	nonsynonymous SNV	TXLNB:NM_153235:exon10:c.C1781T:p.P594L,	.	.	424	1077	21	0	0	21	0.00965517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	B	0.003	B	0.112	N	1.000	N	0.345	N	2.36	T	-0.977	T	0.007	T	0.044	1.141	9.649	0.988	0.289	-0.296	1.732	0.009	.	0.0082	0.00519169	0.0085	0.0014	0.0041	0	0.0094	0.0104	0.0044	0.0130	0.0085057	1315	154602	rs142843391	0.0097	0.0097	0.0094	0.0100	0.0198	0.0095	0.0095	0.0168	0.0157	0.0014	0.0041	0.0161	2.519e-05	0.0087	0.0198	0.0100	0.0097	0.0138	0.0070	0.0071	0.0075	0.0066	0.0137	0.0067	0.0066	0.0110	0.0101	0.0017	0	0.0035	0.0158	0	0.0088	0.0204	0.0105	0.0066	0.0137	0.121	0.27783	T	0.15	0.32461	T	0.003	0.11197	B	0.003	0.08700	B	0.112033	0.02648	N	1.828980	1	0.08975	N	1.61	0.41143	L	2.36	0.16089	T	-2.6	0.55983	D	0.061	0.03283	-0.9766	0.35772	T	0.007	0.02598	T	9	0.00434196	0.00088	T	.	.	.	0.009	0.00846	.	.	0.117506650769	0.11410	0.10405901791647389	0.10335	0.0776381010885	0.08735	0.28201675415	0.07775	T	0.006405	0.05833	T	-0.726782	0.00025	T	-0.805072	0.01779	T	0.00267633473456065	0.00028	T	0.344066	0.07525	T	0.032116443	0.03176	0.04711767	0.06716	0.032116443	0.03175	0.04711767	0.06715	-5.056	0.37442	T	.	.	0.067	0.02488	B	.	.	0.186468	0.05734	2.177	0.46548963698285656	0.03737	0.10788	0.16193	N	AEFBI	0.181520	0.30884	N	-1.26363731614048	0.04122	0.1854551	-1.25041412218816	0.05125	0.2434541	0.00302891155545131	0.09875	0.553676	0.25195	0	0.588015	0.36545	0	0.573078	0.19857	0	0.586402	0.36253	0	.	.	5.04	0.988	0.18914	-0.342000	0.07848	-0.521000	0.08690	-0.670000	0.04303	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1898:0.159:0.4872:0.1639	1.732	0.02757	532	0.73501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2111.11	36	chr6	139242800	.	G	A	2111.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.58;DP=904;ExcessHet=0.1072;FS=0.564;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=0.399;SOR=0.769	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1575	19	0	2	0
chr6	139242885	139242885	C	T	exonic	TXLNB	.	nonsynonymous SNV	TXLNB:NM_153235:exon10:c.G1696A:p.E566K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	B	0.001	B	0.001	N	1.000	N	-0.145	N	2.55	T	-0.988	T	0.004	T	0.092	-0.642	1.168	-10.1	-4.286	-4.277	13.771	0.022	0.00228849346955	.	.	0.0002	0	0	0	0	0	0.0011	0.0013	0.0001423	22	154602	rs756091357	7.456e-05	7.456e-05	5.581e-05	9.351e-05	0.0010	6.315e-05	5.873e-05	0.0008	0.0008	0	2.236e-05	0	0	0	0	1.259e-05	0.0001	0.0010	1.97e-05	1.969e-05	2.57e-05	1.344e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.011e-05	0	0	0	0	0	0	0	0	0	0.0006	0.811	0.03028	T	0.894	0.03099	T	0.001	0.07471	B	0.001	0.04355	B	0.001142	0.00745	N	2.983420	1	0.08975	N	0.375	0.12094	N	2.55	0.13795	T	-0.17	0.09627	N	0.052	0.02366	-0.9877	0.33175	T	0.004	0.01470	T	9	0.011493444	0.00251	T	0.002288	0.04397	T	0.022	0.04323	0.114	0.02306	0.0401082797425	0.02173	0.11326702011036492	0.11254	0.085014186535	0.09608	0.256264418364	0.04456	T	0.00255	0.01944	T	-0.700617	0.00036	T	-0.829605	0.01269	T	0.0124294603457358	0.00204	T	0.506149	0.16021	T	0.03125671	0.02934	0.04559967	0.06172	0.03125671	0.02933	0.04559967	0.06172	-4.626	0.32497	T	.	.	0.058	0.00705	B	.	.	-1.098411	0.00642	0.017	0.60821141630738873	0.06556	0.01647	0.05293	N	AEFBI	0.147321	0.27097	N	-2.05756622010562	0.00159	0.006787841	-2.17238935569259	0.00129	0.005672429	0.999998304911648	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573078	0.19857	0	0.586402	0.36253	0	.	.	5.07	-10.1	0.00330	-2.246000	0.01273	-1.709000	0.04872	-1.073000	0.01588	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.1138:0.5861:0.3001	13.771	0.62513	531	0.73574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1507.98	36	chr6	139242885	.	C	T	1507.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=954;ExcessHet=0.0000;FS=5.726;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.94;ReadPosRankSum=-2.320e-01;SOR=1.387	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1575	20	0	1	0
chr6	142075893	142075893	G	A	exonic	NMBR	.	nonsynonymous SNV	NMBR:NM_001324308:exon3:c.C484T:p.R162W	.	.	433	1065	24	0	0	24	0.0111421	.	.	699344	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.993	D	0.000	D	1.000	D	2.505	M	1.18	T	-0.755	T	0.156	T	0.929	3.638	18.50	0.912	-0.087	1.892	15.314	0.392	0.0443608226075	0.0048	0.00319489	0.0046	0.0016	0.0042	0.0001	0.0023	0.0066	0.0044	0.0024	0.0046118	713	154602	rs142626832	0.0057	0.0057	0.0057	0.0056	0.0083	0.0056	0.0055	0.0064	0.0063	0.0010	0.0048	0.0046	0	0.0029	0.0083	0.0064	0.0060	0.0023	0.0044	0.0044	0.0047	0.0042	0.0079	0.0042	0.0040	0.0068	0.0063	0.0010	0	0.0079	0.0032	0.0004	0.0009	0.0068	0.0068	0.0057	0.0023	0.001	0.78490	D	0.029	0.54541	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.295	0.90403	M	1.18	0.37746	T	-2.34	0.51811	N	0.936	0.94196	-0.7555	0.57646	T	0.156	0.48824	T	10	0.03532988	0.01777	T	0.044361	0.61452	D	0.392	0.70764	.	.	0.804686868852	0.80285	0.8196599033719563	0.81922	0.306287977142	0.32927	0.715474963188	0.69387	T	0.35663	0.72345	T	-0.0837222	0.39107	T	0.110409	0.77600	D	0.0728350477732559	0.09043	T	0.918408	0.70674	D	0.5702802	0.71076	0.59424245	0.76447	0.5702802	0.71077	0.59424245	0.76448	-10.551	0.77139	D	.	.	0.720	0.73784	P	.	.	4.135081	0.61910	24.4	0.99905509036723072	0.97651	0.86661	0.45989	D	AEFDCI	0.803252	0.72845	D	0.380703883405565	0.60376	4.225956	0.270218235454805	0.53809	3.54804	0.0607733084802156	0.15208	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.31	0.912	0.18476	1.996000	0.40396	0.884000	0.22419	0.670000	0.69193	1.000000	0.71638	0.999000	0.35428	0.973000	0.55318	0.0:0.0:0.4259:0.5741	15.314	0.73770	929	0.16858	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1511.98	37	chr6	142075893	.	G	A	1511.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=887;ExcessHet=0.0000;FS=0.701;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.38;ReadPosRankSum=0.575;SOR=0.589	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1413	20	0	1	0
chr6	142078794	142078794	C	T	exonic	NMBR	.	nonsynonymous SNV	NMBR:NM_001324308:exon2:c.G88A:p.E30K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.995	D	0.953	D	0.000	D	1.000	D	3.18	M	1.2	T	-0.495	T	0.251	T	0.896	4.301	22.5	5.48	2.575	7.448	19.320	0.438	0.0687392231819	.	0.000199681	0.0002	0	0	0.0001	0	0	0	0.0016	0.0001811	28	154602	rs534826257	7.251e-05	7.251e-05	4.22e-05	0.0001	0.0011	6.114e-05	5.699e-05	0.0009	0.0009	0	0	0	2.519e-05	0	0	3.597e-06	9.934e-05	0.0011	4.606e-05	4.594e-05	2.573e-05	6.733e-05	0.0013	2.112e-05	1.529e-05	0.0005	0.0004	2.413e-05	0	0	0	0	0	0	0	0	0.0013	0.005	0.63226	D	0.099	0.38891	T	0.995	0.67487	D	0.953	0.69275	D	0.000002	0.62929	D	0.102197	1	0.81001	D	3.85	0.95769	H	1.2	0.37405	T	-1.93	0.44852	N	0.86	0.85660	-0.4947	0.68839	T	0.251	0.62027	T	10	0.6358489	0.68777	D	0.068739	0.70536	D	0.438	0.74235	0.769	0.89609	0.852914925006	0.85150	0.9302849642915699	0.93007	0.303414013437	0.32666	0.611261129379	0.54494	T	0.164871	0.51050	T	-0.0482845	0.44707	T	0.122488	0.78399	D	0.447159948542649	0.30693	T	0.975902	0.91565	D	0.78376144	0.82886	0.49072844	0.70538	0.78376144	0.82887	0.49072844	0.70538	-10.765	0.78353	D	.	.	0.859	0.80249	P	.	.	4.944358	0.81627	27.6	0.99926968818285389	0.99163	0.99588	0.97739	D	AEFBI	0.917621	0.88550	D	0.763839601801499	0.83804	8.114101	0.66274266074175	0.79563	7.108862	0.999999997468233	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.48	5.48	0.80675	7.565000	0.81337	7.606000	0.61733	0.543000	0.25316	1.000000	0.71638	1.000000	0.68203	0.028000	0.12845	0.0:1.0:0.0:0.0	19.320	0.94221	928	0.17405	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2784.98	33	chr6	142078794	.	C	T	2784.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.30;DP=936;ExcessHet=0.0000;FS=2.287;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=0.970;SOR=0.884	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1310	20	0	1	0
chr6	142088531	142088531	C	T	exonic	NMBR	.	nonsynonymous SNV	NMBR:NM_002511:exon2:c.G128A:p.R43H,	.	.	431	1088	3	0	0	3	0.00137678	.	.	2348833	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.989	D	0.648	P	0.058	N	1.000	D	2.015	M	2.12	T	-1.148	T	0.068	T	0.756	4.988	29.2	5.61	2.813	5.897	20.000	0.225	0.0173465764793	7.7e-05	.	0.0003	0	0.0003	0	0	0.0002	0.0011	0.0012	0.0002523	39	154602	rs372711016	0.0002	0.0002	0.0002	0.0003	0.0017	0.0002	0.0002	0.0010	0.0009	8.961e-05	0.0003	0.0002	0	0	0.0017	0.0002	0.0002	0.0012	0.0002	0.0002	0.0003	0.0001	0.0010	0.0001	0.0001	0.0004	0.0003	0.0001	0	0.0002	0	0	0	0	0.0002	0	0.0010	0.151	0.24564	T	0.441	0.13290	T	0.989	0.62824	D	0.648	0.52381	P	0.058005	0.22436	N	0.504141	1	0.81001	D	2.505	0.72935	M	2.12	0.19726	T	-0.99	0.26200	N	0.862	0.85872	-1.1478	0.01092	T	0.068	0.27913	T	10	0.44077215	0.58086	T	0.017347	0.39013	T	0.225	0.52323	.	.	0.804478147604	0.80264	0.7398725953467179	0.73932	0.304120174913	0.32729	0.597008526325	0.52482	T	0.050374	0.28578	T	-0.237489	0.15670	T	-0.164354	0.57957	T	0.243506163358688	0.22580	T	0.865913	0.56597	D	0.08905961	0.20795	0.14907658	0.35214	0.08905961	0.20795	0.14907658	0.35213	-6.873	0.53100	T	.	.	0.151	0.33481	B	.	.	3.813814	0.55029	23.6	0.99947544844626157	0.99913	0.83799	0.42894	D	AEFDBCI	0.821577	0.74210	D	0.662827669882128	0.77200	6.629431	0.68703568020346	0.81392	7.516366	0.999999994934185	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.608004	0.38603	0	0.530356	0.10902	0	.	.	5.61	5.61	0.85347	6.072000	0.70870	4.810000	0.45034	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.945000	0.48827	0.0:1.0:0.0:0.0	20.000	0.97405	928	0.17405	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	5103.68	107	chr6	142088531	.	C	T	5103.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.942;DP=984;ExcessHet=0.3300;FS=1.780;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=14.26;ReadPosRankSum=0.400;SOR=0.590	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1092	18	0	3	0
chr6	142133919	142133919	G	C	exonic	GJE1	.	nonsynonymous SNV	GJE1:NM_001358410:exon2:c.G109C:p.G37R,	.	.	440	1081	1	0	0	1	0.000462321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00399361	0.0043	0	0	0	0	0	0	0.0081	0.0005627	87	154602	rs377574229	0.0009	0.0008	0.0005	0.0013	0.0075	0.0008	0.0008	0.0069	0.0067	0	0	0	0	0	0.0007	0	0.0007	0.0075	0.0003	0.0003	0.0002	0.0005	0.0102	0.0003	0.0002	0.0079	0.0071	0	0	0	0	0	0	0	0	0.0005	0.0102	0.069	0.35537	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.44	0.99100	D	-2.48	0.54059	N	0.882	0.88027	.	.	.	.	.	.	.	0.020428121	0.00471	T	.	.	.	.	.	.	.	0.887454508191	0.88635	0.9275731308719519	0.92735	.	.	.	.	.	0.854756	0.96725	D	0.110782	0.65433	D	0.391481	0.91831	D	.	.	.	0.90391	0.66280	D	0.12756458	0.29848	0.20030251	0.43955	0.12756458	0.29848	0.20030251	0.43954	-7.627	0.58499	D	.	.	0.496	0.64408	A	.	.	3.112814	0.41995	21.5	0.99876688417298487	0.95328	0.98410	0.82490	D	AEFBI	0.781590	0.71313	D	.	.	.	.	.	.	0.8191901650957	0.24493	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.6	3.73	0.41982	7.180000	0.77215	2.449000	0.32805	-0.170000	0.11276	1.000000	0.71638	0.997000	0.33255	0.017000	0.10941	0.0:0.1456:0.8544:0.0	14.775	0.69335	912	0.21483	Connexin, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2496.08	35	chr6	142133919	.	G	C	2496.08	.	AC=2;AF=0.048;AN=42;DP=777;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.36;SOR=0.739	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1187	20	1	0	0
chr6	142417306	142417306	C	T	exonic	ADGRG6	.	nonsynonymous SNV	ADGRG6:NM_001032394:exon20:c.C2888T:p.A963V	Lethal congenital contracture syndrome 9, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2757599	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.593	P	0.196	B	0.007	N	0.994	D	1.82	L	1.32	T	-1.119	T	0.044	T	0.133	1.879	12.24	3.17	0.404	1.240	10.704	0.052	0.0131963736504	8.4e-05	.	0.0003	0	0	0.0003	0	0.0003	0.0014	0.0008	0.000194	30	154602	rs200450467	0.0001	0.0001	9.464e-05	0.0002	0.0008	0.0001	0.0001	0.0006	0.0005	3.004e-05	0	0	2.532e-05	0	0.0007	8.788e-05	0.0002	0.0008	0.0001	0.0001	0.0002	9.42e-05	0.0006	9.16e-05	7.714e-05	0.0002	9.036e-05	2.413e-05	0	6.554e-05	0	0.0002	0	0.0068	0.0002	0.0005	0.0006	0.182	0.24090	T	.	.	.	0.593	0.39147	P	0.196	0.36635	B	0.007409	0.31413	N	0.274614	0.993839	0.42069	D	.	.	.	1.32	0.35219	T	-2.33	0.51646	N	0.243	0.30687	-1.1191	0.02389	T	0.044	0.18783	T	10	0.069197	0.09894	T	0.013196	0.32416	T	0.052	0.14661	.	.	0.112648838833	0.10856	0.642814151654839	0.64216	0.128141445602	0.14447	0.335283964872	0.15731	T	0.200976	0.55872	T	-0.495647	0.00605	T	-0.571469	0.15316	T	0.0440504338565283	0.04430	T	0.768023	0.39669	T	0.06296629	0.13209	0.10134664	0.24258	0.07242695	0.16109	0.09471136	0.22430	-6.925	0.53558	T	.	.	0.084	0.10497	B	.;.;.;.	.;.;.;.	1.597920	0.20432	14.75	0.97230563542253512	0.32946	0.91872	0.54446	D	AEFDBI	0.442108	0.49997	N	-0.467074887634624	0.23166	1.242073	-0.462299173890295	0.23200	1.264012	0.999998815023886	0.74766	0.722319	0.85440	0	0.573888	0.26702	0	0.527494	0.11647	0	0.735409	0.98432	0	.	.	5.92	3.17	0.35510	1.535000	0.35667	-0.200000	0.10954	-0.916000	0.02226	0.931000	0.32310	0.000000	0.08366	0.099000	0.18236	0.0:0.7927:0.0:0.2073	10.704	0.45143	727	0.54702	GPCR, family 2-like;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	772.98	95	chr6	142417306	.	C	T	772.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.060e-01;DP=778;ExcessHet=0.0000;FS=0.784;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.14;ReadPosRankSum=-7.830e-01;SOR=0.685	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr6	142419953	142419953	C	A	exonic	ADGRG6	.	nonsynonymous SNV	ADGRG6:NM_001032394:exon21:c.C3084A:p.N1028K	Lethal congenital contracture syndrome 9, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.972	D	0.866	P	0.022	N	1.000	D	1.54	L	1.27	T	-0.966	T	0.057	T	0.1	3.434	17.62	3.07	0.368	0.388	9.040	0.129	0.0129970001048	.	.	8.284e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs760542668	6.843e-07	6.84e-07	0	1.376e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.36310	T	.	.	.	0.972	0.57405	D	0.866	0.61580	P	0.021683	0.26783	N	0.391839	0.999389	0.48079	D	.	.	.	1.27	0.36146	T	-0.9	0.24244	N	0.218	0.31590	-0.9657	0.38073	T	0.057	0.24018	T	10	0.18769065	0.34291	T	0.012997	0.32054	T	0.129	0.35316	0.418	0.45873	0.15556083564	0.15200	0.7355524152700611	0.73500	0.357179526398	0.37446	0.434969484806	0.29889	T	0.140736	0.47542	T	-0.313424	0.07449	T	-0.591134	0.13567	T	0.52714698261413	0.33628	D	0.954005	0.83632	D	0.042335704	0.06401	0.054845586	0.09511	0.042335704	0.06400	0.054845586	0.09511	-10.031	0.77277	D	.	.	0.288	0.51993	B	.;.;.;.	.;.;.;.	2.585181	0.33527	19.37	0.99476431723784586	0.66633	0.95430	0.64689	D	AEFBI	0.627433	0.60989	D	-0.265130396349804	0.30504	1.701496	-0.226040266541263	0.30607	1.724736	0.999044908897005	0.38290	0.706548	0.73137	0	0.573888	0.26702	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.77	3.07	0.34476	0.411000	0.20836	0.257000	0.16498	-0.842000	0.02783	0.978000	0.35038	0.976000	0.30059	0.945000	0.48827	0.0:0.6566:0.0:0.3434	9.040	0.35471	737	0.53483	GPCR, family 2-like;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2110.98	35	chr6	142419953	.	C	A	2110.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=871;ExcessHet=0.0000;FS=2.592;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=-1.651e+00;SOR=0.702	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1388	20	0	1	0
chr6	142774723	142774723	T	C	exonic	HIVEP2	.	nonsynonymous SNV	HIVEP2:NM_006734:exon5:c.A16G:p.T6A,	Mental retardation, autosomal dominant 43, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.702	P	0.182	B	0.000	D	0.854	N	1.61	L	4.39	T	-0.937	T	0.004	T	0.383	2.628	14.75	5.56	2.240	3.261	16.007	0.151	0.00417674175607	.	.	8.369e-06	0	0	0	0	0	0	6.377e-05	6.5e-06	1	154602	rs768390940	1.368e-06	1.368e-06	1.362e-06	1.375e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.994e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.40573	D	0.068	0.44106	T	0.702	0.41889	P	0.182	0.35926	B	0.000007	0.62929	D	0.116985	0.854439	0.28449	N	1.6	0.40776	L	4.39	0.02234	T	-1.11	0.28703	N	0.469	0.50508	-0.9371	0.43072	T	0.004	0.01435	T	10	0.14596918	0.27682	T	0.004177	0.10058	T	0.151	0.39764	0.093	0.01151	0.0675242888579	0.06100	0.23686734249579014	0.23601	0.228455159554	0.25396	0.522357404232	0.41958	T	0.128288	0.45585	T	-0.20374	0.20267	T	-0.429805	0.29957	T	0.234125018333234	0.22146	T	0.774523	0.40643	T	0.12514676	0.29344	0.10726289	0.25818	0.12514676	0.29344	0.10726289	0.25818	-3.393	0.14963	T	.	.	0.097	0.16010	B	.;.;.	.;.;.	3.111044	0.41967	21.5	0.99289347135661754	0.58219	0.91213	0.53082	D	AEFDBI	0.414261	0.48360	N	0.268943259271151	0.54580	3.623418	0.367354419991213	0.59559	4.134883	0.999633534003581	0.41205	0.719381	0.83141	0	0.723133	0.82719	0	0.566861	0.19136	0	0.655142	0.61905	0	.	.	5.56	5.56	0.83678	3.314000	0.51653	6.159000	0.54312	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.007	0.80164	535	0.73288	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2354.98	39	chr6	142774723	.	T	C	2354.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.993e+00;DP=1006;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.83;ReadPosRankSum=2.10;SOR=0.657	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	20	0	1	0
chr6	143096038	143096038	C	G	exonic	AIG1	.	nonsynonymous SNV	AIG1:NM_001366344:exon2:c.C251G:p.A84G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1409960423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.601e-06	6.576e-06	1.289e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	35.47	1	chr6	143096038	.	C	G	35.47	.	AC=2;AF=0.077;AN=26;DP=39;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3272;MLEAC=2;MLEAF=0.077;MQ=60.00;QD=17.74;SOR=0.693	GT:AD:DP:GQ:PL	0/0:3,0:3:6:0,6,90	12	1	0	8
chr6	143433974	143433974	C	T	exonic	ADAT2	.	nonsynonymous SNV	ADAT2:NM_001286259:exon3:c.G68A:p.R23Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.999	D	0.814	P	0.000	D	1.000	D	1.345	L	1.01	T	-1.068	T	0.109	T	0.725	5.332	34	4.37	2.254	6.953	17.122	0.253	0.0222667837073	8.1e-05	.	8.287e-06	0.0001	0	0	0	0	0	0	1.29e-05	2	154602	rs371702532	2.737e-06	3.42e-06	2.723e-06	2.75e-06	4.472e-05	6.4e-07	4.3e-07	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	0	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.068	0.44106	T	0.999	0.77913	D	0.814	0.58796	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.865	0.49290	L	1.01	0.41058	T	-3.42	0.67241	D	0.878	0.89242	-1.0681	0.09836	T	0.109	0.39462	T	10	0.82335997	0.81528	D	0.022267	0.45141	T	0.253	0.56294	.	.	0.664996154042	0.66218	0.905471267796962	0.90520	0.805012700567	0.66421	0.615372776985	0.55074	T	0.214031	0.57551	T	0.0723714	0.61135	D	-0.13382	0.60649	T	0.979450106620789	0.72835	D	0.933407	0.75038	D	0.73863953	0.80214	0.44949278	0.67957	0.73863953	0.80216	0.44949278	0.67957	-6.659	0.51508	T	.	.	0.466	0.64334	A	.;.	.;.	5.505025	0.91624	32	0.99948160977970557	0.99923	0.98230	0.80748	D	AEFBI	0.745569	0.68820	D	0.538112937577269	0.69360	5.345995	0.540607691501203	0.70747	5.550752	0.99999999997979	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.37	4.37	0.51830	7.401000	0.79199	7.539000	0.60051	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	17.122	0.86582	866	0.32446	.;Cytidine and deoxycytidylate deaminase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	890.98	45	chr6	143433974	.	C	T	890.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=888;ExcessHet=0.0000;FS=3.772;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.82;ReadPosRankSum=-9.050e-01;SOR=1.118	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr6	143511615	143511615	-	GGA	exonic	FUCA2	.	nonframeshift insertion	FUCA2:NM_032020:exon1:c.19_20insTCC:p.L6_P7insL,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0	0	0	0.0012	3.84e-05	1	26028	rs750606009	7.009e-05	7.388e-05	3.556e-05	0.0001	0.0010	5.874e-05	5.442e-05	0.0008	0.0007	0	0	0	0	0	0	1.119e-05	0.0002	0.0010	2.628e-05	2.626e-05	2.569e-05	2.689e-05	0.0004	8.14e-06	5.14e-06	7.279e-05	3.025e-05	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1358.94	35	chr6	143511615	.	G	GGGA	1358.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.619;DP=781;ExcessHet=0.0000;FS=2.890;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.10;ReadPosRankSum=-9.880e-01;SOR=1.069	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1000	20	0	1	0
chr6	143941953	143941953	G	A	exonic	PLAGL1	.	nonsynonymous SNV	PLAGL1:NM_001317157:exon3:c.C863T:p.S288L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.058	B	0.007	B	0.009	N	1.000	N	0.55	N	3.89	T	-0.951	T	0.006	T	0.089	-0.289	2.618	-0.903	-0.446	1.892	7.767	0.036	0.0074142743758	.	.	2.587e-05	0	0	0	0	4.599e-05	0	0	1.94e-05	3	154602	rs749708141	3.451e-06	4.104e-06	1.37e-06	5.563e-06	3.62e-06	1.01e-06	7.4e-07	8.5e-07	5.7e-07	0	0	0	0	1.914e-05	0	3.62e-06	0	0	1.971e-05	1.97e-05	1.285e-05	2.69e-05	6.547e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.547e-05	0	0	0	0	2.94e-05	0	0	0.166	0.23183	T	0.656	0.18903	T	0.058	0.22967	B	0.007	0.12992	B	0.009091	0.01229	N	2.567660	1	0.08975	N	0.55	0.14455	N	2.88	0.10291	T	-1.05	0.31576	N	0.103	0.17416	-0.9508	0.40833	T	0.006	0.02206	T	10	0.047051072	0.03974	T	0.007414	0.19657	T	0.036	0.09122	0.312	0.28612	0.128874641272	0.12493	0.0998900713402932	0.09920	0.312168810141	0.33520	0.238350659609	0.02643	T	0.146775	0.48454	T	-0.380709	0.03084	T	-0.7148	0.05051	T	0.0533618430730261	0.06081	T	0.80302	0.45008	T	0.036935374	0.04641	0.025543094	0.00603	0.036935374	0.04641	0.025543094	0.00603	-2.995	0.10127	T	.	.	0.104	0.20235	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	0.388029	0.07598	4.256	0.74770506126206349	0.10820	0.18150	0.20140	N	AEFBCI	0.136002	0.25652	N	-1.21020067492763	0.04850	0.2198053	-1.22041443774869	0.05582	0.2663923	0.132568153262296	0.17120	0.743674	0.98306	0	0.630245	0.54622	0	0.459711	0.06710	0	0.655142	0.61905	0	.	.	5.63	-0.903	0.09999	1.521000	0.35516	3.133000	0.36449	-0.169000	0.11342	0.003000	0.16062	0.053000	0.21875	0.016000	0.10718	0.2635:0.1353:0.6013:0.0	7.767	0.28149	869	0.31655	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1655.98	36	chr6	143941953	.	G	A	1655.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.363e+00;DP=812;ExcessHet=0.0000;FS=1.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.24;ReadPosRankSum=-2.000e-01;SOR=0.521	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1251	20	0	1	0
chr6	144186773	144186773	G	A	exonic	STX11	.	nonsynonymous SNV	STX11:NM_003764:exon2:c.G146A:p.R49Q,	Hemophagocytic lymphohistiocytosis, familial, 4, Autosomal recessive	.	0	1516	6	0	0	6	0.00197498	.	.	252151	not_specified|Autoinflammatory_syndrome|Familial_hemophagocytic_lymphohistiocytosis_4	MedGen:CN169374|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0011336,MedGen:C1863728,OMIM:603552,Orphanet:540	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.002	B	0.003	B	0.000	N	1.000	N	-2.65	N	2.42	T	-0.929	T	0.002	T	0.025	0.503	6.728	2.05	0.127	3.387	10.120	0.113	.	0.0048	0.0199681	0.0076	0.0179	0.0011	0.0639	0.0064	0.0008	0.0067	0.0039	0.0071086	1099	154602	rs17073498	0.0028	0.0028	0.0029	0.0028	0.0541	0.0028	0.0027	0.0522	0.0514	0.0187	0.0012	0	0.0541	0.0067	0.0019	0.0002	0.0072	0.0035	0.0081	0.0081	0.0081	0.0082	0.0633	0.0077	0.0076	0.0577	0.0555	0.0170	0	0.0022	0	0.0633	0.0071	0	0.0005	0.0104	0.0070	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.003	0.08700	B	0.000049	0.53742	N	0.166978	0.999998	0.08975	N	-1.38	0.00630	N	2.42	0.15376	T	3.2	0.00116	N	0.051	0.02272	-0.9292	0.44256	T	0.002	0.00585	T	10	0.0014668703	0.00016	T	.	.	.	0.113	0.31778	.	.	0.239901079897	0.23603	0.12129155337351372	0.12056	0.42421969197	0.42855	0.283109098673	0.07929	T	0.019247	0.15372	T	-0.739416	0.00021	T	-0.781442	0.02410	T	0.00185052502255932	0.00019	T	0.281572	0.04927	T	0.047392707	0.08094	0.06401404	0.12768	0.047392707	0.08094	0.06401404	0.12767	-3.431	0.15477	T	0.030346758965571964	0.00085	0.067	0.02518	B	.	.	1.660977	0.21183	15.09	0.60829413673498112	0.06558	0.02730	0.07398	N	AEFDGBI	0.032910	0.03808	N	-1.06588859702686	0.07280	0.3376806	-0.738321478532382	0.16010	0.8448758	0.550249113910825	0.21327	0.631515	0.41029	0	0.697927	0.68747	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.85	2.05	0.25860	3.353000	0.51962	1.900000	0.29576	-0.040000	0.17491	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.7408:0.0:0.2592:0.0	10.120	0.41787	792	0.45996	Syntaxin, N-terminal domain|Syntaxin, N-terminal domain|Syntaxin, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1543.98	41	chr6	144186773	.	G	A	1543.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=853;ExcessHet=0.0000;FS=2.161;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=0.364;SOR=0.914	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1233	20	0	1	0
chr6	144187216	144187216	G	A	exonic	STX11	.	nonsynonymous SNV	STX11:NM_003764:exon2:c.G589A:p.V197M,	Hemophagocytic lymphohistiocytosis, familial, 4, Autosomal recessive	.	0	1488	33	1	0	35	0.011624	.	.	301660	Familial_hemophagocytic_lymphohistiocytosis_4|not_provided|STX11-related_disorder|Autoinflammatory_syndrome	MONDO:MONDO:0011336,MedGen:C1863728,OMIM:603552,Orphanet:540|MedGen:C3661900|.|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.07	T	0.892	P	0.21	B	0.000	D	0.683	N	1.59	L	1.96	T	-1.108	T	0.023	T	0.21	3.457	17.71	4.3	1.154	6.751	14.945	0.076	0.00971965578042	0.0002	0.000798722	0.0004	0	8.66e-05	0	0	0.0003	0	0.0019	0.0004204	65	154602	rs141499372	0.0004	0.0004	0.0003	0.0005	0.0050	0.0004	0.0004	0.0036	0.0031	5.974e-05	0.0002	0	0	0	0.0050	0.0002	0.0005	0.0027	0.0004	0.0004	0.0003	0.0005	0.0023	0.0003	0.0003	0.0013	0.0010	4.809e-05	0	0.0016	0	0	0	0.0034	0.0003	0	0.0023	0.052	0.39097	T	0.089	0.40426	T	0.892	0.49086	P	0.21	0.37304	B	0.000048	0.53742	D	0.122706	0.682758	0.30263	N	2.255	0.64187	M	1.96	0.22270	T	-0.72	0.20358	N	0.31	0.34981	-1.1084	0.03210	T	0.023	0.09741	T	10	0.015579969	0.00327	T	0.00972	0.25381	T	0.076	0.22200	.	.	0.490908442424	0.48723	0.34912340342413467	0.34826	0.724596477256	0.62404	0.636289834976	0.58037	T	0.023504	0.17932	T	-0.489034	0.00658	T	-0.481098	0.24329	T	0.0736005887976587	0.09148	T	0.894511	0.63379	D	0.25583345	0.48619	0.27752128	0.53706	0.25583345	0.48619	0.27752128	0.53705	-5.08	0.37696	T	0.3849737830796823	0.47889	0.193	0.41326	B	.	.	3.359816	0.46376	22.3	0.99781715947512606	0.86867	0.96871	0.71393	D	AEFDBI	0.673552	0.63957	D	0.306716585663016	0.56492	3.814041	0.349285329582601	0.58464	4.01706	0.999697431973278	0.41870	0.67177	0.52595	0	0.702456	0.74545	0	0.48864	0.07692	0	0.635551	0.53088	0	.	.	5.18	4.3	0.50540	6.872000	0.75336	5.843000	0.50266	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.8564:0.1436	14.945	0.70675	793	0.45818	Syntaxin, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2328.98	194	chr6	144187216	.	G	A	2328.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.76;DP=952;ExcessHet=0.0000;FS=8.431;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.01;ReadPosRankSum=-2.175e+00;SOR=1.231	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,99,1485	20	0	1	0
chr6	144490135	144490135	C	T	exonic	UTRN	.	nonsynonymous SNV	UTRN:NM_007124:exon30:c.C4199T:p.S1400F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.836	P	0.326	B	0.063	N	1.000	D	1.39	L	2.22	T	-1.117	T	0.031	T	0.233	3.830	19.45	5.58	2.780	3.421	19.922	0.066	0.00594223496831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	1.874e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	.	.	.	0.836	0.46303	P	0.326	0.41929	B	0.063226	0.22041	N	0.387666	1	0.08975	N	1.79	0.46772	L	2.22	0.18248	T	-1.91	0.44471	N	0.254	0.28732	-1.1170	0.02531	T	0.031	0.13155	T	10	0.25658664	0.43064	T	0.005942	0.15490	T	0.066	0.19193	0.285	0.24280	0.290962096972	0.28708	0.24082399480468444	0.23996	0.225162258563	0.25054	0.315469801426	0.12735	T	0.422484	0.77354	T	-0.186923	0.22710	T	-0.506278	0.21699	T	0.619372075279953	0.37180	D	0.719828	0.33277	T	0.084465034	0.19552	0.104698226	0.25153	0.084465034	0.19551	0.104698226	0.25152	-6.699	0.51803	T	.	.	0.100	0.17232	B	.	.	2.651750	0.34524	19.65	0.99521811674786753	0.69284	0.39611	0.26251	N	AEFBI	0.174062	0.30117	N	0.0618582540162536	0.44689	2.738463	0.0355063740986425	0.41375	2.485	0.997706710696329	0.35927	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	3.449000	0.52713	3.273000	0.37174	0.599000	0.40250	0.126000	0.23278	0.090000	0.22521	0.672000	0.33309	0.0:1.0:0.0:0.0	19.922	0.97090	894	0.26265	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1117.98	109	chr6	144490135	.	C	T	1117.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.110e-01;DP=854;ExcessHet=0.0000;FS=0.709;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.26;ReadPosRankSum=-1.389e+00;SOR=0.620	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1158	20	0	1	0
chr6	145950379	145950379	C	G	exonic	SHPRH	.	nonsynonymous SNV	SHPRH:NM_001042683:exon4:c.G867C:p.Q289H	.	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.028	B	0.009	B	0.949	N	1.000	N	0.695	N	-3.21	D	-0.724	T	0.349	T	0.078	1.533	11.08	-1.55	-0.673	-0.866	2.198	0.104	0.0250291142081	.	.	0.0001	0	0.0003	0	0	0.0002	0	0.0001	0.0001164	18	154602	rs768323052	7.118e-05	7.114e-05	6.537e-05	7.704e-05	0.0026	5.983e-05	5.591e-05	0.0016	0.0013	0.0001	0.0003	0	0	0	0.0026	4.858e-05	0.0001	8.116e-05	6.572e-05	6.562e-05	7.715e-05	5.376e-05	8.828e-05	3.517e-05	2.616e-05	3.765e-05	2.577e-05	2.407e-05	0	6.546e-05	0	0	0	0.0034	8.828e-05	0.0005	0	0.116	0.30943	T	0.064	0.52060	T	0.001	0.09854	B	0.002	0.10090	B	0.948574	0.07640	N	1.026850	1	0.08975	N	1.4	0.35362	L	-3.21	0.93291	D	-1.3	0.32590	N	0.09	0.06854	-0.7237	0.59279	T	0.349	0.71336	T	10	0.06693706	0.09255	T	0.025029	0.48012	D	0.104	0.29647	0.376	0.38994	0.731822560003	0.72943	0.2940241312040266	0.29315	0.0695362135788	0.07782	0.233742743731	0.02256	T	0.020106	0.15893	T	-0.310218	0.07729	T	-0.385824	0.35040	T	0.00551985851360363	0.00060	T	0.189081	0.02920	T	0.034217298	0.03798	0.036504783	0.03110	0.034217298	0.03797	0.036504783	0.03110	-5.761	0.44233	T	.	.	0.079	0.17488	B	.;.;.;.;.	.;.;.;.;.	-0.025682	0.04108	0.970	0.94649273209458251	0.25254	0.13170	0.17703	N	AEFBI	0.091098	0.18455	N	-1.0893758192432	0.06837	0.3159262	-1.0725168016569	0.08245	0.4045159	9.57119982021247E-5	0.04910	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.95	-1.55	0.08105	-0.828000	0.04526	-0.443000	0.09147	-0.871000	0.02547	0.000000	0.06391	0.000000	0.08366	0.133000	0.19684	0.1012:0.2888:0.2974:0.3126	2.198	0.03677	356	0.85138	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	796.98	33	chr6	145950379	.	C	G	796.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=782;ExcessHet=0.0000;FS=0.807;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.86;ReadPosRankSum=-2.000e-01;SOR=0.811	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1214	20	0	1	0
chr6	146549672	146549672	G	C	exonic	RAB32	.	nonsynonymous SNV	RAB32:NM_006834:exon2:c.G459C:p.Q153H,	.	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.0	B	0.008	B	0.000	D	0.933	D	0	N	-1.03	T	-1.058	T	0.092	T	0.183	1.020	9.168	-0.084	0.044	0.068	5.059	0.160	0.0203214982612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.25457	T	0.163	0.31125	T	0.0	0.02946	B	0.008	0.13708	B	0.000037	0.55875	D	0.162107	0.932997	0.37040	D	0.55	0.14455	N	-1.03	0.76430	T	-0.61	0.18042	N	0.299	0.33796	-1.0585	0.12134	T	0.092	0.35038	T	10	0.15090984	0.28534	T	0.020321	0.42890	T	0.160	0.41473	0.565	0.68633	0.659925967884	0.65708	0.4625580721080559	0.46173	0.108456008198	0.12232	0.302462339401	0.10769	T	0.25029	0.62037	T	-0.118779	0.33322	T	-0.408394	0.32410	T	0.0654319301247597	0.07995	T	0.549745	0.18930	T	0.09009909	0.21072	0.053479288	0.09014	0.09009909	0.21072	0.053479288	0.09014	-4.725	0.33705	T	.	.	0.122	0.25462	B	.	.	0.972746	0.13500	10.02	0.94400853667526941	0.24790	0.65441	0.32738	D	AEFBCI	0.347447	0.44191	N	-0.905181257101594	0.10719	0.5136542	-0.812582837565267	0.14192	0.7402181	0.999580915613626	0.40607	0.706548	0.73137	0	0.627178	0.54094	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.7	-0.0844	0.13025	0.006000	0.13051	-1.336000	0.05684	-0.185000	0.09859	0.839000	0.30269	0.000000	0.08366	0.958000	0.51230	0.2577:0.0:0.4047:0.3376	5.059	0.13885	507	0.75469	Small GTP-binding protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1742.98	35	chr6	146549672	.	G	C	1742.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.18;DP=841;ExcessHet=0.0000;FS=3.053;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=-4.860e-01;SOR=0.988	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1094	20	0	1	0
chr6	146700999	146700999	G	A	exonic	ADGB	.	nonsynonymous SNV	ADGB:NM_024694:exon13:c.G1636A:p.V546I,	.	.	440	1080	2	0	0	2	0.000925069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	T	0.014	B	0.001	B	0.901	N	1.000	N	-1.1	N	1.61	T	-0.917	T	0.007	T	0.037	-1.143	0.107	-2.48	-0.517	-0.718	12.799	0.019	0.00667353441132	.	0.000399361	0.0008	0	0	0.0081	0.0024	0.0003	0	0.0006	0.0001229	19	154602	rs182423390	0.0005	0.0005	0.0005	0.0006	0.0124	0.0005	0.0005	0.0115	0.0111	9.508e-05	0.0003	0.0007	0.0124	0.0004	0.0004	0.0002	0.0005	0.0003	0.0005	0.0005	0.0004	0.0006	0.0087	0.0004	0.0004	0.0067	0.0060	9.63e-05	0	0.0002	0.0006	0.0087	0.0004	0	0.0002	0	0.0008	1.0	0.00964	T	0.934	0.02742	T	0.014	0.16867	B	0.001	0.04355	B	0.901098	0.08619	N	0.955253	1	0.08975	N	-0.345	0.03330	N	1.61	0.28391	T	0.31	0.04022	N	0.034	0.00942	-0.9166	0.46011	T	0.007	0.02439	T	10	0.0051766634	0.00112	T	0.006674	0.17614	T	0.019	0.03383	.	.	0.0138822411134	0.00435	0.06679601707531156	0.06617	.	.	0.285528928041	0.08275	T	9.84E-4	0.00525	T	-0.76335	0.00014	T	-0.865411	0.00787	T	0.0099151350383154	0.00132	T	0.609039	0.23055	T	0.021540472	0.00762	0.027550284	0.00917	0.021540472	0.00761	0.027550284	0.00916	-3.461	0.15890	T	.	.	0.069	0.02960	B	.	.	-0.000083	0.04280	1.071	0.167654289974114	0.00462	0.01761	0.05536	N	AEFI	0.043460	0.06872	N	-1.64487385467782	0.01057	0.0458564	-1.61854435101449	0.01546	0.07007086	3.20036118336587E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.21	-2.48	0.06052	-0.695000	0.05211	-6.206000	0.01465	-0.241000	0.07509	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	0.0:0.5211:0.3953:0.0836	12.799	0.56956	741	0.52966	Peptidase C2, calpain, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	754.98	33	chr6	146700999	.	G	A	754.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.980e-01;DP=792;ExcessHet=0.0000;FS=3.915;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.95;ReadPosRankSum=0.00;SOR=0.791	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1253	20	0	1	0
chr6	146733907	146733907	G	A	exonic	ADGB	.	nonsynonymous SNV	ADGB:NM_024694:exon22:c.G2671A:p.V891I,	.	.	426	1057	36	3	0	42	0.0194805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.0	B	0.0	B	.	.	1.000	N	1.265	L	1.49	T	-1.032	T	0.019	T	0.079	0.701	7.741	-9.47	-2.313	-2.250	14.096	0.027	.	0.0042	0.00559105	0.0110	0.0009	0.0074	0	0.0006	0.0072	0.0205	0.0209	0.0023415	362	154602	rs61742778	0.0044	0.0043	0.0039	0.0050	0.0215	0.0044	0.0043	0.0206	0.0203	0.0004	0.0022	0.0102	0.0001	0.0019	0.0116	0.0034	0.0049	0.0215	0.0030	0.0030	0.0027	0.0033	0.0199	0.0028	0.0027	0.0167	0.0155	0.0006	0.0066	0.0014	0.0092	0	0.0008	0.0068	0.0038	0.0043	0.0199	0.599	0.05652	T	0.456	0.12740	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.365	0.12025	N	1.49	0.31470	T	-0.22	0.10480	N	0.046	0.01825	-1.0320	0.19809	T	0.019	0.07753	T	9	0.002518624	0.00038	T	.	.	.	0.027	0.05988	.	.	0.0297737177859	0.01360	0.039220856352879786	0.03868	.	.	0.313933312893	0.12501	T	0.006145	0.05579	T	-0.711101	0.00031	T	-0.777968	0.02516	T	0.00170575897135944	0.00017	T	0.347365	0.07649	T	0.024575064	0.01303	0.039445285	0.04040	0.024575064	0.01303	0.039445285	0.04039	-2.225	0.04163	T	.	.	0.073	0.04764	B	.	.	-0.893189	0.00937	0.036	0.48854782117413253	0.04111	0.01048	0.03908	N	AEFI	0.031432	0.03361	N	-1.77433703604253	0.00611	0.02633791	-1.89504143448668	0.00501	0.0221883	0.982981029885129	0.30486	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.58	-9.47	0.00501	-1.417000	0.02571	-2.776000	0.03373	-1.368000	0.01174	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.7165:0.1052:0.1783:0.0	14.096	0.64548	683	0.59664	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	835.98	39	chr6	146733907	.	G	A	835.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.700e-02;DP=773;ExcessHet=0.0000;FS=1.782;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.19;ReadPosRankSum=-1.070e-01;SOR=0.914	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1403	20	0	1	0
chr6	148343146	148343146	C	G	exonic	SASH1	.	nonsynonymous SNV	SASH1:NM_015278:exon1:c.C79G:p.P27A,	.	.	.	.	.	.	.	.	.	.	.	2338927	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.015	B	0.005	B	0.975	N	1.000	N	0.345	N	2.34	T	-0.935	T	0.006	T	0.254	1.381	10.55	2.04	0.346	0.220	6.019	0.030	0.0215485575691	0.0005	0.000199681	0.0008	0	0.0003	0	0.0004	0.0013	0.0014	0	0.0006015	93	154602	rs200427643	0.0010	0.0010	0.0010	0.0009	0.0012	0.0009	0.0009	0.0011	0.0011	0.0003	0.0003	0	0	0.0002	0	0.0012	0.0009	1.164e-05	0.0006	0.0006	0.0005	0.0007	0.0010	0.0005	0.0005	0.0008	0.0007	7.216e-05	0	0.0009	0	0	0.0003	0	0.0010	0.0028	0	1.0	0.00964	T	0.076	0.42614	T	0.015	0.17086	B	0.005	0.11217	B	0.975411	0.07806	N	1.015480	1	0.19363	N	-0.69	0.01958	N	2.34	0.16351	T	-0.39	0.13611	N	0.168	0.17828	-0.9353	0.43349	T	0.006	0.02055	T	10	0.008150458	0.00185	T	0.021549	0.44334	T	0.030	0.07022	.	.	0.156986980423	0.15292	0.14953210293914362	0.14875	0.143089849423	0.16145	0.655293822289	0.60737	T	0.008676	0.07952	T	-0.565783	0.00234	T	-0.631036	0.10336	T	0.0107119501145615	0.00151	T	0.369163	0.08660	T	0.05391816	0.10274	0.08368168	0.19194	0.05391816	0.10273	0.08368168	0.19194	-7.415	0.57010	T	.	.	0.061	0.01161	B	.	.	1.047831	0.14288	10.87	0.64417982127026296	0.07488	0.00839	0.03365	N	AEFDBHCI	0.021557	0.00973	N	-1.17939605662499	0.05311	0.2418528	-1.16901960782543	0.06433	0.3096505	0.999999990673194	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	2.93	2.04	0.25787	0.062000	0.14264	0.080000	0.14378	0.439000	0.21057	0.061000	0.21800	0.035000	0.21413	0.037000	0.13953	0.0:0.8407:0.0:0.1593	6.019	0.18847	950	0.11238	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1915.98	35	chr6	148343146	.	C	G	1915.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.088e+00;DP=888;ExcessHet=0.0000;FS=0.567;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.64;ReadPosRankSum=-1.160e-01;SOR=0.626	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1291	20	0	1	0
chr6	148543716	148543716	C	T	exonic	SASH1	.	nonsynonymous SNV	SASH1:NM_001346507:exon11:c.C1529T:p.S510L	.	.	417	1090	15	0	0	15	0.00683371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.001	B	0.002	B	0.034	N	1.000	D	1.935	M	1.08	T	-1.039	T	0.062	T	0.116	1.809	12.01	4.83	2.241	3.374	10.732	0.057	0.00640577562844	0.0002	0.000998403	0.0007	0	0.0003	0	0	6.241e-05	0.0012	0.0067	0.0006468	100	154602	rs138913048	0.0003	0.0003	0.0002	0.0005	0.0048	0.0003	0.0003	0.0044	0.0042	3.123e-05	2.541e-05	0	2.558e-05	0	0.0018	2.577e-05	0.0004	0.0048	0.0002	0.0002	0.0001	0.0003	0.0054	0.0002	0.0001	0.0038	0.0032	0	0	0	0	0	0	0.0102	4.41e-05	0	0.0054	0.071	0.35165	T	0.472	0.31527	T	0.001	0.07471	B	0.002	0.06944	B	0.033633	0.24874	N	0.439290	0.966398	0.38527	D	2.045	0.56016	M	1.08	0.39401	T	-2.36	0.52128	N	0.192	0.25253	-1.0389	0.17648	T	0.062	0.25923	T	10	0.004956901	0.00106	T	0.006406	0.16841	T	0.057	0.16321	.	.	0.619004339632	0.61592	0.3150039992461185	0.31413	0.131701140582	0.14851	0.410920679569	0.26585	T	0.025131	0.21720	T	-0.524104	0.00416	T	-0.524662	0.19824	T	0.047493846159901	0.05053	T	0.886911	0.61435	D	0.11728575	0.27653	0.08419998	0.19352	0.097044855	0.22867	0.08497029	0.19586	-5.259	0.39536	T	0.1646277008792782	0.20356	0.085	0.15832	B	.;.	.;.	2.750962	0.36054	20.1	0.99472638887301112	0.66419	0.96891	0.71503	D	AEFDBI	0.267913	0.38451	N	-0.15132286854229	0.35178	2.017341	-0.0761912689404787	0.36376	2.116221	0.999999931408953	0.74766	0.719381	0.83141	0	0.59043	0.45803	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	4.83	4.83	0.61880	4.221000	0.58371	3.308000	0.37439	0.599000	0.40250	0.997000	0.40164	0.998000	0.33993	0.268000	0.23719	0.0:0.9122:0.0:0.0878	10.732	0.45302	956	0.09877	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1240.98	34	chr6	148543716	.	C	T	1240.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.133;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=-9.610e-01;SOR=0.702	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1123	20	0	1	0
chr6	148548500	148548500	G	T	exonic	SASH1	.	nonsynonymous SNV	SASH1:NM_001346507:exon13:c.G2969T:p.R990I	.	.	437	1084	1	0	0	1	0.000461042	.	.	699366	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.427	B	0.185	B	0.001	D	1.000	D	1.385	L	-2.07	D	-0.551	T	0.285	T	0.115	2.615	14.70	2.57	0.642	2.264	6.365	0.306	.	0.0088	0.0109824	0.0027	0.0265	0.0023	0	0	0.0003	0.0056	0.0001	0.0026778	414	154602	rs61996289	0.0011	0.0011	0.0011	0.0010	0.0277	0.0010	0.0010	0.0262	0.0256	0.0277	0.0019	0.0013	0	0	0.0059	0.0002	0.0030	0.0002	0.0075	0.0075	0.0076	0.0073	0.0255	0.0071	0.0070	0.0242	0.0237	0.0255	0	0.0031	0.0023	0	0	0.0034	0.0002	0.0033	0	0.003	0.68238	D	0.016	0.60972	D	0.427	0.35524	B	0.185	0.36047	B	0.000673	0.42516	D	0.257624	0.999986	0.54805	D	1.195	0.30194	L	-2.07	0.85943	D	-2.05	0.47008	N	0.148	0.18784	-0.5511	0.66745	T	0.285	0.65665	T	10	0.0075474977	0.00171	T	.	.	.	0.306	0.62729	.	.	0.89600254552	0.89497	0.5609210872077474	0.56019	0.369694341272	0.38498	0.371209472418	0.21006	T	0.041134	0.25758	T	-0.392972	0.02574	T	-0.316304	0.42979	T	0.0346698785293855	0.02752	T	0.878912	0.59457	D	0.109509625	0.25890	0.17862569	0.40544	0.14806776	0.33819	0.17864294	0.40545	-8.818	0.66518	D	0.2404497818916538	0.32568	0.230	0.53261	B	.;.	.;.	3.091358	0.41625	21.4	0.97107006766431436	0.32392	0.97090	0.72631	D	AEFDBIJ	0.243533	0.36480	N	-0.178670257558677	0.34025	1.937096	-0.0908496607956728	0.35767	2.073244	0.999873481471847	0.44625	0.706548	0.73137	0	0.563428	0.19063	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.36	2.57	0.29928	2.315000	0.43412	1.484000	0.26842	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.2118:0.1312:0.6571:0.0	6.365	0.20654	961	0.08552	Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|SASH1, SAM domain repeat 2;Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|SASH1, SAM domain repeat 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	555.98	33	chr6	148548500	.	G	T	555.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.046e+00;DP=752;ExcessHet=0.0000;FS=6.645;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.35;ReadPosRankSum=-2.481e+00;SOR=0.190	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1281	20	0	1	0
chr6	148747509	148747509	G	A	exonic	UST	.	nonsynonymous SNV	UST:NM_005715:exon1:c.G79A:p.G27S,	.	.	425	1069	27	1	0	29	0.0133826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.018	B	0.017	B	0.173	N	0.999	N	0	N	0.83	T	-0.983	T	0.024	T	0.074	0.331	5.793	3.23	0.644	2.520	11.592	0.042	.	0.0033	0.00159744	0.0085	0.0008	0.0109	0	0	0.0124	0.0172	0.0071	0.0027749	429	154602	rs188909023	0.0058	0.0057	0.0059	0.0058	0.0098	0.0057	0.0057	0.0076	0.0068	0.0011	0.0037	0.0016	8.915e-05	0.0010	0.0098	0.0066	0.0067	0.0044	0.0041	0.0041	0.0041	0.0042	0.0071	0.0039	0.0038	0.0066	0.0064	0.0010	0	0.0047	0.0012	0	0.0008	0.0136	0.0071	0.0043	0.0017	0.715	0.03984	T	0.309	0.19782	T	0.018	0.17786	B	0.017	0.18140	B	0.173032	0.17320	N	0.512100	0.998604	0.22043	N	0	0.06538	N	0.83	0.47815	T	0.04	0.06488	N	0.154	0.15888	-0.9827	0.34375	T	0.024	0.10329	T	10	0.003916621	0.00075	T	.	.	.	0.042	0.11227	.	.	0.082315109003	0.07666	0.2743243772125405	0.27345	0.365907966095	0.38182	0.739475011826	0.72895	T	0.01016	0.09196	T	-0.628902	0.00097	T	-0.672005	0.07480	T	0.00108362783634392	0.00010	T	0.636336	0.25008	T	0.03447396	0.03876	0.055258553	0.09658	0.03447396	0.03876	0.055258553	0.09657	-4.067	0.24802	T	.	.	0.091	0.13174	B	.	.	1.464980	0.18879	13.97	0.76022364484432137	0.11302	0.59258	0.30866	D	AEFDGBHCI	0.215033	0.34043	N	-0.776347744357883	0.13928	0.6898054	-0.694113931382895	0.17107	0.9081451	0.999999999982714	0.74766	0.652421	0.48094	0	0.748881	0.99253	0	0.52208	0.10781	0	0.56751	0.32155	0	.	.	4.15	3.23	0.36150	0.752000	0.26027	4.785000	0.44861	-0.179000	0.10443	0.072000	0.22128	1.000000	0.68203	0.292000	0.24309	0.0:0.0:0.8132:0.1868	11.592	0.50209	944	0.12746	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	619.98	41	chr6	148747509	.	G	A	619.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=757;ExcessHet=0.0000;FS=1.149;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.48;ReadPosRankSum=-1.650e-01;SOR=0.877	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1098	20	0	1	0
chr6	149378547	149378547	A	G	exonic	TAB2	.	nonsynonymous SNV	TAB2:NM_001292034:exon3:c.A632G:p.N211S	Congenital heart defects, nonsyndromic, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.993	D	0.956	D	0.000	D	1.000	D	1.085	L	-0.73	T	-0.607	T	0.286	T	0.153	0.616	7.317	4.81	1.084	8.730	12.018	0.289	0.0174232180529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.097e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.15561	T	0.308	0.19845	T	0.993	0.65571	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.135	0.59519	M	-0.73	0.73100	T	-0.76	0.21215	N	0.832	0.82761	-0.6069	0.64532	T	0.286	0.65763	T	10	0.41120163	0.56237	T	0.017423	0.39111	T	0.289	0.60808	0.142	0.04556	0.838873866338	0.83733	0.5868442608649261	0.58614	0.921335754619	0.71472	0.701119542122	0.67305	T	0.222447	0.58630	T	-0.0361796	0.46514	T	-0.289746	0.45798	T	0.672599494457245	0.39454	D	0.943606	0.78679	D	0.07764685	0.17636	0.09442277	0.22350	0.07764685	0.17635	0.09442277	0.22350	-3.035	0.10563	T	0.6447677205311815	0.71602	0.165	0.36335	B	.;.;.	.;.;.	3.080831	0.41449	21.4	0.94975233418001004	0.25908	0.99224	0.93061	D	AEGBI	.	.	.	0.18399020640354	0.50429	3.23311	0.184305151337975	0.48988	3.107472	0.999995086728048	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.96	4.81	0.61401	8.718000	0.91150	11.270000	0.91373	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.9329:0.0:0.0671:0.0	12.018	0.52617	761	0.50382	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	218.82	33	chr6	149378547	.	A	G	218.82	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-6.274e+00;DP=1804;ExcessHet=0.3300;FS=161.434;InbreedingCoeff=-0.0800;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.27;ReadPosRankSum=2.06;SOR=10.902	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1077	18	0	3	0
chr6	149378579	149378579	C	T	exonic	TAB2	.	nonsynonymous SNV	TAB2:NM_001292034:exon3:c.C664T:p.P222S	Congenital heart defects, nonsyndromic, 2, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.608	P	0.098	B	0.000	D	1.000	D	0.06	N	-0.72	T	-0.860	T	0.102	T	0.472	0.267	5.446	5.5	2.584	5.305	19.387	0.259	0.025081169738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.362e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.23007	T	0.273	0.22154	T	0.608	0.39540	P	0.098	0.30479	B	0.000005	0.62929	D	0.111756	0.999528	0.47407	D	0.695	0.17993	N	-0.73	0.73100	T	-0.65	0.18877	N	0.407	0.44761	-0.8604	0.51234	T	0.102	0.37768	T	10	0.24907327	0.42214	T	0.025081	0.48061	D	0.259	0.57090	0.33	0.31519	0.441518658318	0.43770	0.13569958080695674	0.13493	0.317607766921	0.34000	0.606817901134	0.53866	T	0.157821	0.50058	T	0.011091	0.53175	T	-0.221845	0.52560	T	0.362615168094635	0.27511	T	0.864814	0.56255	D	0.06484723	0.13799	0.11935702	0.28810	0.06484723	0.13799	0.11935702	0.28810	-3.202	0.12505	T	0.17470558111144455	0.22202	0.067	0.02894	B	.;.;.	.;.;.	2.144452	0.27310	17.42	0.91044826223881903	0.20296	0.96302	0.68477	D	AEFGBI	.	.	.	-0.0848130326801947	0.38057	2.223292	0.0863139490010132	0.43857	2.678998	0.999979799015855	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	5.378000	0.65942	6.126000	0.53851	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	19.387	0.94553	761	0.50382	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	6029.08	33	chr6	149378579	.	C	T	6029.08	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.62;DP=1150;ExcessHet=0.0000;FS=3.032;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=32.07;ReadPosRankSum=1.46;SOR=0.110	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1077	20	1	0	0
chr6	149890817	149890817	C	A	exonic	RAET1E	.	nonsynonymous SNV	RAET1E:NM_001243327:exon1:c.G85T:p.G29C	.	.	416	1104	2	0	0	2	0.000904977	0.9898	0.776	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.996	D	0.956	D	.	.	1.000	N	1.1	L	2.75	T	-1.071	T	0.015	T	0.534	1.459	10.82	-3.58	-1.146	-3.567	1.488	0.254	0.00186443068553	0.0002	0.000399361	0.0004	0	0	0	0	0.0002	0	0.0020	0.0002911	45	154602	rs199529072	0.0002	0.0002	0.0001	0.0003	0.0017	0.0002	0.0002	0.0015	0.0014	0	0	0.0005	0	0	0.0007	0.0001	0.0002	0.0017	0.0001	0.0001	0.0001	0.0001	0.0017	6.506e-05	5.318e-05	0.0008	0.0006	0	0	0	0.0006	0	0	0	8.82e-05	0	0.0017	0.019	0.57480	D	0.062	0.53788	T	0.995	0.68779	D	0.95	0.69739	D	.	.	.	.	1	0.08975	N	.	.	.	2.75	0.11622	T	-2.11	0.49018	N	0.152	0.16308	-1.0708	0.09238	T	0.015	0.05994	T	8	0.012346655	0.00266	T	0.001864	0.03245	T	0.254	0.56428	.	.	0.221019684889	0.21715	0.3067023239143956	0.30583	0.34700166408	0.36595	0.21996742487	0.01308	T	0.048157	0.27935	T	-0.524366	0.00415	T	-0.545006	0.17808	T	0.122326938529558	0.14655	T	0.539346	0.20701	T	0.15528727	0.35103	0.087715395	0.20407	0.15528727	0.35103	0.087715395	0.20406	-5.921	0.45614	T	.	.	0.200	0.44553	B	.;.;.;.	.;.;.;.	1.028302	0.14083	10.65	0.98375221445380967	0.40791	0.00387	0.01950	N	ALL	0.055401	0.10157	N	-0.876216574487258	0.11410	0.5504849	-1.19868894951443	0.05932	0.2840767	0.999999999991442	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.530356	0.10902	0	.	.	1.79	-3.58	0.04303	-3.576000	0.00475	-8.738000	0.00921	-1.106000	0.01499	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.198:0.258:0.3926:0.1514	1.488	0.02304	398	0.82839	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	710.98	33	chr6	149890817	.	C	A	710.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.645e+00;DP=785;ExcessHet=0.0000;FS=0.957;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.01;ReadPosRankSum=-3.870e-01;SOR=0.545	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1268	20	0	1	0
chr6	149946535	149946535	G	T	exonic	ULBP2	.	nonsynonymous SNV	ULBP2:NM_025217:exon3:c.G513T:p.K171N,	.	.	422	1098	2	0	0	2	0.000909918	.	.	2344058	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.997	D	0.944	D	.	.	1.000	N	3.025	M	-0.17	T	-0.779	T	0.273	T	0.079	1.860	12.18	-1.87	-0.322	-1.139	5.974	0.161	0.00688117526605	0.0002	0.000399361	0.0002	0	0.0005	0	0	0.0002	0	0.0006	0.0002005	31	154602	rs192707406	9.713e-05	9.713e-05	7.623e-05	0.0001	0.0023	8.376e-05	7.915e-05	0.0013	0.0011	2.987e-05	0.0003	0.0002	0	0	0.0023	6.025e-05	0.0001	0.0004	9.191e-05	9.841e-05	3.854e-05	0.0001	0.0004	5.523e-05	4.361e-05	7.287e-05	3.028e-05	2.406e-05	0.0022	0.0001	0	0	0	0	7.349e-05	0.0009	0.0004	0.004	0.65419	D	0.004	0.74150	D	0.997	0.70673	D	0.944	0.68059	D	.	.	.	.	1	0.08975	N	.	.	.	-0.17	0.65563	T	-3.21	0.64826	D	0.165	0.17416	-0.7794	0.56337	T	0.273	0.64515	T	9	0.15183353	0.28691	T	0.006881	0.18205	T	0.161	0.41658	0.64	0.77687	0.695163590071	0.69253	0.17689641535290768	0.17608	0.249461060041	0.27520	0.310563921928	0.11992	T	0.036128	0.23985	T	-0.428602	0.01511	T	-0.531467	0.19141	T	0.173505871259056	0.18815	T	0.893011	0.63001	D	0.17482315	0.38308	0.15492563	0.36339	0.17482315	0.38307	0.15492563	0.36338	-7.258	0.55896	T	.	.	0.480	0.63679	A	.	.	1.798654	0.22860	15.79	0.99378913615455478	0.61803	0.01286	0.04483	N	AEFBI	0.025568	0.01771	N	-0.374540165229499	0.26379	1.439243	-0.731125247011794	0.16188	0.8551186	1.68063023432919E-4	0.05721	0.706548	0.73137	0	0.627178	0.54094	0	0.563428	0.18855	0	0.714379	0.83352	0	.	.	2.26	-1.87	0.07317	-1.294000	0.02875	-20.000000	0.00162	0.479000	0.22080	0.000000	0.06391	0.000000	0.08366	0.262000	0.23568	0.6475:0.0:0.3525:0.0	5.974	0.18606	336	0.86165	MHC class I-like antigen recognition-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	4134.98	39	chr6	149946535	.	G	T	4134.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.942;DP=1144;ExcessHet=0.0000;FS=1.292;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.94;MQRankSum=0.00;QD=12.42;ReadPosRankSum=0.190;SOR=0.757	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr6	150065536	150065536	C	T	exonic	ULBP3	.	nonsynonymous SNV	ULBP3:NM_024518:exon3:c.G490A:p.A164T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.59	P	0.099	B	.	.	1.000	N	0.845	L	0.15	T	-1.085	T	0.035	T	0.118	1.558	11.16	-3.65	-0.937	-1.590	5.679	0.035	0.0102762821705	.	0.000599042	0.0005	0	0	0	0	1.498e-05	0	0.0037	0.0004204	65	154602	rs571728197	0.0002	0.0002	0.0001	0.0003	0.0035	0.0002	0.0002	0.0032	0.0030	2.987e-05	0	0	0	0	0.0002	3.597e-06	0.0003	0.0035	0.0001	0.0001	6.424e-05	0.0001	0.0025	6.508e-05	5.32e-05	0.0014	0.0011	4.813e-05	0	0	0	0	0	0	2.941e-05	0	0.0025	0.013	0.53900	D	0.007	0.69154	D	0.59	0.39078	P	0.099	0.30579	B	.	.	.	.	1	0.08975	N	.	.	.	0.15	0.60734	T	-0.92	0.24676	N	0.18	0.22228	-1.0846	0.06480	T	0.035	0.15291	T	9	0.0078653395	0.00179	T	0.010276	0.26632	T	0.035	0.08770	0.386	0.40624	0.50055108712	0.49690	0.055480922669224185	0.05489	0.261761956274	0.28725	0.257609426975	0.04610	T	0.004985	0.04407	T	-0.559278	0.00256	T	-0.577297	0.14787	T	0.0328648684161455	0.02448	T	0.868313	0.57032	D	0.10842715	0.25638	0.155573	0.36461	0.10842715	0.25637	0.155573	0.36460	-3.576	0.17510	T	.	.	0.103	0.18539	B	.;.	.;.	0.300201	0.06761	3.274	0.9070571285153004	0.19956	0.00725	0.03048	N	AEFDBI	0.030768	0.03161	N	-1.21438601088794	0.04791	0.2169591	-1.37588709431782	0.03510	0.1639071	0.890961743072875	0.25848	0.706548	0.73137	0	0.610034	0.51514	0	0.566861	0.19136	0	0.714379	0.83352	0	.	.	3.34	-3.65	0.04212	-2.673000	0.00914	-20.000000	0.00162	-1.216000	0.01345	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2913:0.2993:0.4094:0.0	5.679	0.17036	330	0.86467	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2413.98	34	chr6	150065536	.	C	T	2413.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.110e-01;DP=934;ExcessHet=0.0000;FS=10.795;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=0.763;SOR=0.528	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1229	20	0	1	0
chr6	150600012	150600012	C	T	exonic	PLEKHG1	.	nonsynonymous SNV	PLEKHG1:NM_001329799:exon1:c.C17T:p.S6F,	.	.	440	1063	18	1	0	20	0.00931966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00279553	0.0333	0	0	0	.	0.1264	0	0.0073	0.0009832	152	154602	rs551526351	0.0055	0.0019	0.0054	0.0056	0.0223	0.0051	0.0049	0.0105	0.0074	0.0015	0.0049	0.0283	0	0.0002	0.0223	0.0064	0.0082	0.0013	0.0046	0.0046	0.0044	0.0048	0.0091	0.0043	0.0042	0.0079	0.0074	0.0013	0	0.0091	0.0260	0	9.617e-05	0.0171	0.0056	0.0109	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	419.0	24	chr6	150600012	.	C	T	419.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.075;DP=428;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0258;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.12;ReadPosRankSum=0.167;SOR=0.693	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,542	20	0	1	0
chr6	150683770	150683770	C	T	exonic	PLEKHG1	.	nonsynonymous SNV	PLEKHG1:NM_001329798:exon1:c.C8T:p.P3L,	.	.	424	1090	8	0	0	8	0.00365631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0183706	0.0366	0	0	0.0234	.	0	0	0.0520	0.003454	534	154602	rs117511150	0.0043	0.0033	0.0028	0.0059	0.0526	0.0042	0.0041	0.0512	0.0507	0.0005	0.0003	0	0.0310	0	0.0025	4.565e-05	0.0094	0.0526	0.0034	0.0034	0.0024	0.0043	0.0608	0.0031	0.0030	0.0550	0.0528	0.0009	0	0.0007	0	0.0303	0	0	8.822e-05	0.0047	0.0608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2217.98	33	chr6	150683770	.	C	T	2217.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.550;DP=863;ExcessHet=0.0000;FS=0.554;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=1.06;SOR=0.628	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1511	20	0	1	0
chr6	150733895	150733895	C	T	exonic	PLEKHG1	.	nonsynonymous SNV	PLEKHG1:NM_001329798:exon2:c.C391T:p.P131S	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	B	0.154	B	0.052	N	1.000	N	2.08	M	0.34	T	-1.044	T	0.071	T	0.102	2.410	14.02	4.42	1.370	0.208	6.162	0.068	.	0.0046	0.0249601	0.0112	0.0006	0.0011	0.0921	0.0165	0.0056	0.0155	0.0023	0.0108731	1681	154602	rs80178830	0.0089	0.0089	0.0093	0.0086	0.0940	0.0088	0.0088	0.0915	0.0905	0.0005	0.0010	0.0002	0.0940	0.0164	0.0007	0.0068	0.0104	0.0029	0.0084	0.0085	0.0077	0.0092	0.1043	0.0080	0.0079	0.0970	0.0941	0.0011	0	0.0013	0.0003	0.1043	0.0169	0.0034	0.0067	0.0057	0.0052	0.018	0.50676	D	0.468	0.12316	T	0.376	0.34240	B	0.154	0.34351	B	0.051672	0.22962	N	0.491680	1	0.08975	N	1.78	0.46185	L	0.34	0.58176	T	-0.89	0.24026	N	0.091	0.06990	-1.0445	0.15971	T	0.071	0.28773	T	9	0.0024420917	0.00036	T	.	.	.	0.068	0.19811	.	.	.	.	0.31040918342916	0.30953	.	.	0.285249382257	0.08235	T	0.003617	0.03020	T	-0.595291	0.00156	T	-0.541017	0.18196	T	0.00846125271357469	0.00103	T	0.542646	0.18460	T	0.04563063	0.07501	0.054539483	0.09401	0.04563063	0.07501	0.054539483	0.09400	-2.934	0.09487	T	.	.	0.076	0.07602	B	.;.;.	.;.;.	0.483114	0.08524	5.288	0.98656428450329336	0.44261	0.12065	0.17037	N	AEFBI	0.087954	0.17832	N	-0.467581401535315	0.23148	1.241057	-0.535489149819575	0.21192	1.145272	0.0803190491628787	0.15842	0.562547	0.31514	0	0.519925	0.08708	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.29	4.42	0.52775	0.218000	0.17407	0.391000	0.17890	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.121000	0.19209	0.1313:0.6533:0.1415:0.0739	6.162	0.19582	951	0.11083	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2234.98	34	chr6	150733895	.	C	T	2234.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.471;DP=836;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.15;ReadPosRankSum=0.286;SOR=0.699	GT:AD:DP:GQ:PL	0/1:73,85:158:99:2249,0,1867	20	0	1	0
chr6	150831437	150831437	G	A	exonic	PLEKHG1	.	nonsynonymous SNV	PLEKHG1:NM_001329803:exon13:c.G2209A:p.V737M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.855	P	0.2	B	0.257	N	1.000	N	0.69	N	0.27	T	-1.059	T	0.037	T	0.086	0.681	7.644	0.932	0.099	0.114	2.244	0.061	0.0229175938779	7.7e-05	0.000399361	0.0002	0.0002	0.0002	0	0	0.0003	0	0	0.0001617	25	154602	rs202245274	0.0001	0.0001	0.0001	0.0001	0.0042	0.0001	0.0001	0.0029	0.0024	8.961e-05	0.0003	0.0008	5.038e-05	0	0.0042	8.183e-05	0.0003	5.797e-05	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	8.714e-05	0.0001	7.895e-05	4.812e-05	0	0.0002	0.0012	0.0002	0	0.0034	0.0002	0	0	0.004	0.65419	D	0.116	0.36497	T	0.855	0.47121	P	0.2	0.36839	B	0.257070	0.15390	N	0.693156	1	0.08975	N	0.69	0.16971	N	0.27	0.59176	T	-0.57	0.17210	N	0.13	0.12484	-1.0588	0.12058	T	0.037	0.15986	T	10	0.01254946	0.00269	T	0.022918	0.45849	T	0.061	0.17616	.	.	0.501940320817	0.49831	0.15550574358174085	0.15471	.	.	0.359013527632	0.19242	T	0.004357	0.03768	T	-0.417152	0.01784	T	-0.552273	0.17107	T	0.0118844941600412	0.00185	T	0.89971	0.64861	D	0.06195717	0.12888	0.056111157	0.09968	0.06195717	0.12887	0.056111157	0.09967	-4.466	0.30441	T	.	.	0.112	0.21803	B	.;.	.;.	1.483973	0.19096	14.09	0.96781954108990298	0.31079	0.12225	0.17138	N	AEFBI	0.070418	0.13977	N	-0.735350259368441	0.15033	0.7541249	-0.808431585644278	0.14292	0.7459763	0.752254360622494	0.23379	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.636168	0.56350	0	.	.	5.86	0.932	0.18591	0.253000	0.18066	0.474000	0.18740	-0.154000	0.11915	0.000000	0.06391	0.000000	0.08366	0.718000	0.34707	0.244:0.2095:0.4389:0.1076	2.244	0.03780	960	0.08626	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	834.98	100	chr6	150831437	.	G	A	834.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=1891;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.98;ReadPosRankSum=-2.615e+00;SOR=0.709	GT:AD:DP:GQ:PL	0/0:121,0:121:99:0,120,1800	20	0	1	0
chr6	151305798	151305798	G	A	exonic	AKAP12	.	nonsynonymous SNV	AKAP12:NM_005100:exon3:c.G214A:p.D72N,	.	.	426	1085	10	1	0	12	0.00549954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.072	B	0.021	B	0.798	N	0.833	D	0.345	N	3.18	T	-0.962	T	0.006	T	0.012	1.928	12.41	3.57	2.229	3.867	11.005	0.105	.	0.0004	0.0235623	0.0125	9.632e-05	0.0003	0.0009	0.0002	0.0002	0.0044	0.0900	0.0109636	1695	154602	rs61755979	0.0056	0.0056	0.0031	0.0081	0.0878	0.0055	0.0054	0.0862	0.0855	0.0003	0.0002	0.0004	0.0010	0.0001	0.0069	0.0001	0.0060	0.0878	0.0034	0.0034	0.0019	0.0051	0.0991	0.0032	0.0031	0.0918	0.0889	0.0004	0	6.539e-05	0.0003	0.0014	0.0002	0	0.0002	0.0014	0.0991	0.157	0.23997	T	0.228	0.25286	T	0.072	0.23997	B	0.021	0.19346	B	0.797877	0.06751	N	1.128540	0.999949	0.19238	N	0.345	0.11182	N	3.18	0.07478	T	-0.3	0.11913	N	0.059	0.03069	-0.9624	0.38723	T	0.006	0.02168	T	10	0.001671493	0.00020	T	.	.	.	0.105	0.29889	.	.	.	.	0.04261571931084345	0.04206	0.170386787088	0.19210	0.288726627827	0.08737	T	0.037875	0.24637	T	-0.741569	0.00020	T	-0.770316	0.02758	T	0.0121051727848321	0.00193	T	0.69643	0.30590	T	0.0696504	0.15277	0.048349697	0.07162	0.0696504	0.15277	0.048349697	0.07161	-4.599	0.32159	T	.	.	0.113	0.22391	B	.;.	.;.	3.066629	0.41201	21.3	0.97627910582490451	0.35006	0.69037	0.34030	D	AEFBI	0.175781	0.30297	N	-0.401819118567381	0.25405	1.37886	-0.271013495138852	0.29057	1.625006	0.998963678675409	0.38084	0.706298	0.61202	0	0.548873	0.16688	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	4.5	3.57	0.40014	2.543000	0.45411	10.717000	0.83617	0.596000	0.33519	0.911000	0.31706	1.000000	0.68203	0.065000	0.16320	0.0:0.1895:0.8105:0.0	11.005	0.46846	922	0.19044	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1266.98	33	chr6	151305798	.	G	A	1266.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.091e+00;DP=762;ExcessHet=0.0000;FS=2.877;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.91;ReadPosRankSum=0.276;SOR=0.829	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	20	0	1	0
chr6	151349203	151349203	A	G	exonic	AKAP12	.	nonsynonymous SNV	AKAP12:NM_001370346:exon2:c.A497G:p.E166G	.	.	431	1060	30	1	0	32	0.0148699	.	.	721801	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.28	T	0.091	B	0.039	B	0.162	N	1.000	N	1.375	L	2.99	T	-0.927	T	0.007	T	0.219	1.966	12.53	1.23	0.032	1.168	2.822	0.014	.	0.0015	0.00539137	0.0047	0.0003	0.0023	0.0001	0	0.0022	0.0067	0.0231	0.0041332	639	154602	rs61757550	0.0031	0.0031	0.0023	0.0038	0.0233	0.0030	0.0030	0.0225	0.0221	0.0002	0.0015	0.0004	2.519e-05	0.0001	0.0075	0.0019	0.0030	0.0233	0.0019	0.0019	0.0016	0.0021	0.0214	0.0017	0.0016	0.0180	0.0168	0.0002	0.0077	0.0027	0.0009	0	0	0.0068	0.0017	0.0028	0.0214	0.011	0.58626	D	0.175	0.33894	T	0.055	0.25247	B	0.018	0.23607	B	0.161731	0.17642	N	0.414976	1	0.08975	N	1.355	0.33814	L	2.98	0.09356	T	-3.48	0.67941	D	0.161	0.16864	-0.9267	0.44616	T	0.007	0.02399	T	10	0.00404191	0.00079	T	.	.	.	0.014	0.01968	.	.	0.193865811164	0.18958	0.04292823916695377	0.04237	0.22955540359	0.25508	0.234083846211	0.02283	T	0.333517	0.70336	T	-0.573838	0.00210	T	-0.578802	0.14652	T	0.0213776096227445	0.00840	T	0.80032	0.44603	T	0.13005963	0.30358	0.13111448	0.31491	0.13005963	0.30358	0.13111448	0.31490	-4.142	0.28177	T	.	.	0.074	0.06024	B	.;.;.;.	.;.;.;.	2.226109	0.28416	17.79	0.979606302173336	0.37173	0.55464	0.29870	D	AEFBCI	0.321282	0.42413	N	-0.933018253638054	0.10076	0.4798363	-0.940866957212027	0.11136	0.5654561	0.688822126471663	0.22565	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.24	1.23	0.20358	2.284000	0.43140	1.859000	0.29309	-0.100000	0.15956	0.938000	0.32564	0.778000	0.26755	0.084000	0.17470	0.3485:0.3545:0.0672:0.2298	2.822	0.05138	928	0.17405	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1337.98	68	chr6	151349203	.	A	G	1337.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=1402;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=2.99;SOR=0.732	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,117,1800	20	0	1	0
chr6	151349521	151349521	T	C	exonic	AKAP12	.	nonsynonymous SNV	AKAP12:NM_001370346:exon2:c.T815C:p.V272A	.	.	433	1077	12	0	0	12	0.00554017	.	.	721802	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.75	T	0.023	B	0.027	B	0.076	N	1.000	N	1.32	L	3.12	T	-0.914	T	0.006	T	0.192	0.310	5.679	3.65	0.807	1.079	7.226	0.021	.	0.0061	0.00279553	0.0065	0.0009	0.0016	0.0001	0.0162	0.0084	0.0044	0.0053	0.0063195	977	154602	rs142810400	0.0083	0.0083	0.0082	0.0083	0.0090	0.0081	0.0081	0.0089	0.0088	0.0010	0.0020	0.0040	5.041e-05	0.0151	0.0021	0.0090	0.0081	0.0058	0.0058	0.0058	0.0052	0.0064	0.0078	0.0055	0.0054	0.0073	0.0071	0.0014	0.0033	0.0038	0.0032	0	0.0174	0	0.0078	0.0033	0.0061	0.092	0.38407	T	0.789	0.04207	T	0.013	0.18885	B	0.012	0.21085	B	0.075730	0.21205	N	0.245556	1	0.08975	N	1.095	0.27400	L	3.11	0.08194	T	-1.54	0.37375	N	0.172	0.18784	-0.9140	0.46351	T	0.006	0.01981	T	10	0.004445702	0.00091	T	.	.	.	0.021	0.04004	.	.	0.263140351381	0.25927	0.053273935373031024	0.05269	0.213654222059	0.23881	0.32522007823	0.14211	T	0.087517	0.37960	T	-0.607922	0.00130	T	-0.639191	0.09727	T	0.00249716058055952	0.00026	T	0.660234	0.26930	T	0.09422135	0.22147	0.07645682	0.16935	0.09422135	0.22147	0.07645682	0.16935	-2.926	0.09406	T	.	.	0.337	0.65881	B	.;.;.;.	.;.;.;.	2.229731	0.28461	17.80	0.80135290161367345	0.13061	0.10289	0.15837	N	AEFDBCI	0.090025	0.18244	N	-0.796056881290142	0.13413	0.6605449	-0.765367772779885	0.15345	0.8066053	0.886995468555668	0.25755	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	4.81	3.65	0.40985	-0.417000	0.07153	2.175000	0.31084	0.665000	0.62972	0.000000	0.06391	1.000000	0.68203	0.235000	0.22869	0.0:0.2494:0.0:0.7506	7.226	0.25193	928	0.17405	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1028.98	68	chr6	151349521	.	T	C	1028.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.343e+00;DP=1357;ExcessHet=0.0000;FS=1.900;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=0.649;SOR=0.753	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,117,1800	20	0	1	0
chr6	151350612	151350612	A	C	exonic	AKAP12	.	nonsynonymous SNV	AKAP12:NM_001370346:exon2:c.A1906C:p.S636R	.	.	431	1057	32	2	0	36	0.0167442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.172	B	0.124	B	0.000	D	1.000	N	1.87	L	3.06	T	-0.959	T	0.009	T	0.328	1.867	12.20	3.24	0.417	2.378	5.780	0.048	.	0.0024	0.00838658	0.0057	0.0004	0.0056	0	0.0003	0.0035	0.0022	0.0237	0.0053622	829	154602	rs146088180	0.0040	0.0040	0.0033	0.0047	0.0230	0.0039	0.0039	0.0222	0.0219	0.0002	0.0035	0.0027	0	0.0004	0.0061	0.0030	0.0042	0.0230	0.0027	0.0027	0.0023	0.0031	0.0287	0.0025	0.0024	0.0248	0.0233	0.0004	0	0.0021	0.0014	0.0002	0.0006	0.0034	0.0030	0.0024	0.0287	0.007	0.59928	D	0.045	0.52060	D	0.172	0.28767	B	0.058	0.32546	B	0.000166	0.48594	D	0.000000	1	0.08975	N	2.615	0.76484	M	3.05	0.08721	T	-3.12	0.63782	D	0.297	0.34336	-0.9588	0.39405	T	0.009	0.03315	T	10	0.0046565533	0.00097	T	.	.	.	0.048	0.13305	0.338	0.32816	0.31291088546	0.30898	0.0800545487200333	0.07940	0.56273454734	0.52734	0.361177116632	0.19557	T	0.432458	0.78022	T	-0.503759	0.00545	T	-0.478806	0.24574	T	0.0570421717880774	0.06695	T	0.845515	0.52437	T	0.2066933	0.42852	0.1648525	0.38168	0.2066933	0.42852	0.1648525	0.38167	-6.4	0.49509	T	.	.	0.501	0.65101	A	.;.;.;.	.;.;.;.	2.148102	0.27360	17.44	0.99226135576698771	0.56057	0.65544	0.32773	D	AEFDBCI	0.312985	0.41827	N	-0.627014738732703	0.18136	0.9391508	-0.628932184624896	0.18751	1.003074	0.991744038446975	0.32594	0.67177	0.52595	0	0.573888	0.26702	0	0.786243	0.99158	0	0.711	0.71501	0	.	.	5.63	3.24	0.36257	2.373000	0.43920	4.637000	0.44139	-0.071000	0.16307	0.746000	0.29090	0.999000	0.35428	0.008000	0.08271	0.7393:0.0:0.1356:0.1251	5.780	0.17567	928	0.17405	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1062.98	97	chr6	151350612	.	A	C	1062.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.315e+00;DP=1610;ExcessHet=0.0000;FS=0.777;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=1.72;SOR=0.548	GT:AD:DP:GQ:PL	0/0:69,0:69:99:0,120,1800	20	0	1	0
chr6	151458334	151458334	G	A	exonic	ARMT1	.	nonsynonymous SNV	ARMT1:NM_024573:exon3:c.G154A:p.V52M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.098	B	0.067	B	0.231	N	1.000	N	1.295	L	3.22	T	-0.964	T	0.007	T	0.028	0.696	7.717	-4.92	-1.205	0.008	10.226	0.052	0.00694201307924	.	.	3.314e-05	0	0	0.0001	0	4.515e-05	0	0	2.59e-05	4	154602	rs750680617	1.235e-05	1.231e-05	1.091e-05	1.38e-05	2.529e-05	7.72e-06	6.37e-06	6.54e-06	5.04e-06	0	0	0	2.529e-05	0	0	1.172e-05	6.64e-05	0	3.287e-05	3.284e-05	3.855e-05	2.691e-05	7.349e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0	0	0.138	0.25873	T	0.124	0.35455	T	0.098	0.25584	B	0.067	0.27542	B	0.230967	0.03518	N	1.491260	1	0.08975	N	.	.	.	3.22	0.07024	T	-0.82	0.22508	N	0.125	0.11769	-0.9637	0.38468	T	0.007	0.02518	T	10	0.04089144	0.02696	T	0.006942	0.18374	T	0.052	0.14661	0.398	0.42590	0.0884992946249	0.08302	0.24260766050147553	0.24174	0.141164830378	0.15921	.	.	.	0.01009	0.09137	T	-0.50197	0.00557	T	-0.789693	0.02173	T	0.033689105842485	0.02586	T	0.763224	0.38939	T	0.07107781	0.15709	0.09003838	0.21091	0.07107781	0.15709	0.09003838	0.21090	-4.088	0.25113	T	.	.	0.079	0.07130	B	.	.	0.878497	0.12517	9.046	0.92572038110474175	0.22027	0.01250	0.04399	N	AEFDBI	0.011769	0.00111	N	-1.24346492462262	0.04386	0.1978486	-1.32131362840005	0.04155	0.195	0.998853268461125	0.37823	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.85	-4.92	0.02848	0.013000	0.13206	0.116000	0.14850	-0.642000	0.04431	0.000000	0.06391	0.000000	0.08366	0.088000	0.17685	0.1903:0.4293:0.3804:0.0	10.226	0.42404	958	0.09170	Domain of unknown function DUF89	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1566.98	42	chr6	151458334	.	G	A	1566.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.82;DP=834;ExcessHet=0.0000;FS=0.911;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.83;ReadPosRankSum=-1.044e+00;SOR=0.587	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	20	0	1	0
chr6	151808141	151808141	G	A	exonic	ESR1	.	nonsynonymous SNV	ESR1:NM_000125:exon1:c.G229A:p.G77S	Estrogen resistance, Autosomal recessive	.	427	1089	6	0	0	6	0.00274725	.	.	710266	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.982	D	0.684	P	0.066	N	0.996	N	0.02	N	1.9	T	-1.040	T	0.013	T	0.325	-0.977	0.296	2.39	0.917	3.397	6.239	0.065	.	.	0.0101837	0.0080	0	0.0007	0	0	0	0.0021	0.0448	0.004379	677	154602	rs9340773	0.0020	0.0020	0.0012	0.0029	0.0322	0.0019	0.0019	0.0312	0.0308	5.997e-05	6.874e-05	0	5.091e-05	0	0.0005	2.166e-05	0.0025	0.0322	0.0013	0.0013	0.0007	0.0018	0.0389	0.0011	0.0011	0.0344	0.0326	2.405e-05	0	0	0	0	0	0	2.94e-05	0	0.0389	0.607	0.13392	T	0.991	0.06245	T	0.002	0.60036	B	0.008	0.53582	B	0.066110	0.21833	N	0.492423	0.999995	0.08975	N	0.575	0.15311	N	1.9	0.23486	T	0.17	0.13418	N	0.05	0.03613	-1.0400	0.17313	T	0.013	0.04938	T	10	0.0039296746	0.00075	T	.	.	.	0.065	0.18881	0.318	0.29581	0.564498030773	0.56112	0.3525155672593435	0.35165	0.530958695395	0.50617	0.644199609756	0.59161	T	0.225539	0.61348	T	-0.49393	0.00618	T	-0.456511	0.26981	T	0.10807671511495	0.13223	T	0.847515	0.61165	T	0.05465222	0.10516	0.086010166	0.19898	0.075412534	0.16988	0.08811764	0.20524	-4.061	0.24713	T	.	.	0.064	0.04975	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.757245	0.22349	15.58	0.89497994789974034	0.18848	0.35450	0.25304	N	AEFDBHCIJ	0.131410	0.25033	N	-0.64713500421089	0.17544	0.9036566	-0.556495123247152	0.20634	1.112558	0.999987091802423	0.51787	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.64	2.39	0.28492	3.482000	0.52951	2.725000	0.34343	0.676000	0.76740	0.998000	0.41325	0.998000	0.33993	0.061000	0.16044	0.4327:0.0:0.5673:0.0	6.239	0.19991	740	0.53092	.;.;.;.;.;.;Nuclear hormone receptor, ligand-binding domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1094.98	35	chr6	151808141	.	G	A	1094.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.830;DP=961;ExcessHet=0.0000;FS=5.065;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-1.340e-01;SOR=0.776	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1288	20	0	1	0
chr6	151808323	151808323	C	A	exonic	ESR1	.	nonsynonymous SNV	ESR1:NM_000125:exon1:c.C411A:p.S137R	Estrogen resistance, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.984	D	0.001	D	1.000	D	1.59	L	1.43	T	-1.056	T	0.081	T	0.239	2.768	15.22	2.82	1.098	0.360	7.326	0.076	0.0310375631466	.	.	2.918e-05	0	0	0	0	4.927e-05	0	0	6.5e-06	1	154602	rs777114733	1.098e-05	2.257e-05	1.443e-05	7.435e-06	2.607e-05	6.6e-06	5.23e-06	6.03e-06	4.77e-06	0	0	0	0	0	0	1.132e-05	1.806e-05	2.607e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.72154	D	0.101	0.52389	T	0.012	0.90584	B	0.031	0.76113	B	0.000842	0.41440	D	0.304152	0.705129	0.30066	N	1.845	0.48678	L	1.43	0.32958	T	-1.31	0.46146	N	0.258	0.40864	-1.0565	0.12646	T	0.081	0.32060	T	10	0.24795118	0.42084	T	0.031038	0.53215	D	0.076	0.22200	0.543	0.65589	0.619037169258	0.61595	0.3868416333515506	0.38599	0.602018099317	0.55225	0.688429772854	0.65481	T	0.450392	0.79152	T	-0.146117	0.28922	T	-0.447663	0.27954	T	0.461545288562775	0.31221	T	0.911209	0.68535	D	0.19576557	0.41377	0.2624001	0.52031	0.19576557	0.41377	0.2624001	0.52030	-3.969	0.23338	T	0.3582470659802316	0.45491	0.390	0.71766	A	.;.;.;.;.;.	.;.;.;.;.;.	2.964711	0.39493	21.0	0.99420440527998988	0.63742	0.71900	0.35215	D	AEFDBCI	0.194430	0.32151	N	0.00925332749342081	0.42275	2.54412	0.0423279609945673	0.41703	2.509861	0.999923367397485	0.46280	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.97	2.82	0.32061	0.387000	0.20445	1.576000	0.27446	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.993000	0.69303	0.1385:0.6941:0.0:0.1674	7.326	0.25729	740	0.53092	.;.;.;.;Nuclear hormone receptor, ligand-binding domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	981.98	35	chr6	151808323	.	C	A	981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.687;DP=866;ExcessHet=0.0000;FS=0.907;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=0.419;SOR=0.896	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1288	20	0	1	0
chr6	152136623	152136623	A	G	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_001347702:exon13:c.T2188C:p.C730R	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	5	1516	1	0	0	1	0.000329707	.	.	1295579	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	2.675	M	1.39	T	-0.630	T	0.209	T	0.981	4.538	24.5	6.02	2.299	9.339	16.549	0.610	0.111538518083	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1432731171	2.738e-06	2.736e-06	0	5.504e-06	0.0004	6.4e-07	4.3e-07	6.936e-05	2.897e-05	0	0	0	0	0	0.0004	0	1.658e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.997	0.86255	D	0.000021	0.55875	D	0.000000	1	0.81001	D	3.27	0.90083	M	1.39	0.47130	T	-11.49	0.99555	D	0.889	0.95956	-0.6298	0.63579	T	0.209	0.56879	T	10	0.8717097	0.86440	D	0.111539	0.78935	D	0.610	0.84719	0.627	0.76254	0.825321971945	0.82367	0.6509368448516423	0.65029	0.807392402312	0.66551	0.870665192604	0.92663	D	0.713972	0.91863	D	0.24965	0.78567	D	0.217683	0.84056	D	0.999461829662323	0.97510	D	0.928407	0.76057	D	0.9925216	0.99882	0.9701166	0.99470	0.9925216	0.99882	0.9701166	0.99471	-13.344	0.90731	D	.	.	0.938	0.86363	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.211098	0.63621	24.6	0.99795097567878532	0.88017	0.94192	0.60392	D	AEFDGBHCI	0.949368	0.96194	D	0.922485262082298	0.92816	11.64692	0.897547778619571	0.95465	13.64764	1.0	0.98316	0.69289	0.55638	0	0.636889	0.57051	0	0.602189	0.34648	0	0.765956	0.99894	0	.	.	6.02	6.02	0.97559	9.325000	0.96006	11.059000	0.85411	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	1.0:0.0:0.0:0.0	16.549	0.84312	841	0.37094	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	3823.98	34	chr6	152136623	.	A	G	3823.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.590e-01;DP=1058;ExcessHet=0.0000;FS=2.936;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=0.871;SOR=0.858	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1168	20	0	1	0
chr6	152224537	152224537	G	A	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon116:c.C21266T:p.T7089I	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	270165	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.996	D	0.000	D	1.000	D	2.125	M	1.35	T	-0.781	T	0.162	T	0.527	3.717	18.88	4.86	1.558	5.311	15.061	0.267	0.0269676371376	.	.	.	.	.	.	.	.	.	.	.	.	.	rs886043255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.39097	T	0.004	0.74150	D	1.0	0.90584	D	0.996	0.84481	D	0.000010	0.62929	D	0.000000	0.999983	0.58761	D	2.245	0.63543	M	1.35	0.34648	T	-2.21	0.55821	N	0.424	0.50868	-0.7812	0.56235	T	0.162	0.49847	T	10	0.3976959	0.55345	T	0.026968	0.49829	D	0.267	0.58126	0.482	0.56302	0.515882253919	0.51231	0.3443212371412621	0.34346	0.59487213517	0.54784	0.630900144577	0.57273	T	0.245088	0.61432	T	-0.0423038	0.45606	T	-0.298543	0.44879	T	0.961434662342072	0.66081	D	0.869813	0.58316	D	0.1383334	0.31997	0.15497382	0.36348	0.1383334	0.31996	0.15497382	0.36348	-5.709	0.43773	T	.	.	0.505	0.64799	A	.;.;.;.	.;.;.;.	3.692716	0.52622	23.3	0.998970423929739	0.96971	0.96667	0.70300	D	AEFBI	0.541529	0.55764	D	0.617087182278913	0.74254	6.101706	0.563674261097973	0.72355	5.796699	0.998607768609489	0.37289	0.651	0.46895	0	0.653731	0.59785	0	0.547309	0.15389	0	0.683762	0.67416	0	.	.	5.73	4.86	0.62624	5.393000	0.66025	9.773000	0.81562	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0682:0.0:0.9318:0.0	15.061	0.71622	877	0.30165	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	3008.98	33	chr6	152224537	.	G	A	3008.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.940e-01;DP=997;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.90;ReadPosRankSum=-1.254e+00;SOR=0.697	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1408	20	0	1	0
chr6	152230553	152230553	G	C	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon114:c.C20976G:p.D6992E	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	1	1516	4	0	1	5	0.00131752	.	.	489609	Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|Autosomal_recessive_ataxia,_Beauce_type|not_provided	MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.746	P	0.505	P	0.000	D	1.000	D	1.62	L	0.81	T	-0.993	T	0.074	T	0.374	2.400	13.98	4.74	1.367	0.972	4.416	0.100	0.0105410676601	.	0.000199681	5.766e-05	0	0.0004	0	0	1.498e-05	0	6.056e-05	5.17e-05	8	154602	rs139062689	4.789e-05	4.788e-05	5.309e-05	4.263e-05	0.0005	3.86e-05	3.54e-05	0.0002	0.0002	0	0.0004	0	0	0	0.0005	3.777e-05	8.279e-05	3.478e-05	3.283e-05	3.281e-05	2.57e-05	4.028e-05	0.0003	1.26e-05	7.98e-06	8.873e-05	5.283e-05	0	0	0.0003	0	0	0	0	1.47e-05	0	0	0.058	0.38407	T	0.232	0.25987	T	0.746	0.43152	P	0.501	0.47677	P	0.000008	0.62929	D	0.000000	0.814999	0.36401	D	1.7	0.43825	L	0.81	0.48460	T	-3.36	0.66549	D	0.327	0.36779	-0.9926	0.31933	T	0.074	0.29739	T	10	0.085320264	0.14392	T	0.010541	0.27195	T	0.100	0.28662	0.314	0.28935	0.421060224861	0.41726	0.13540800669426512	0.13464	0.133278405636	0.15006	0.586663663387	0.51024	T	0.235252	0.60246	T	-0.354496	0.04451	T	-0.392952	0.34205	T	0.193618869421115	0.20055	T	0.884611	0.60805	D	0.27449328	0.50514	0.26550147	0.52383	0.27449328	0.50514	0.26550147	0.52382	-5.442	0.41321	T	.	.	0.203	0.42820	B	.;.;.	.;.;.	2.460693	0.31700	18.82	0.98743734929636806	0.45542	0.97730	0.76719	D	AEFBI	0.408638	0.48024	N	0.201461489910646	0.51269	3.309607	0.246964420618467	0.52476	3.422271	0.0250326169195899	0.13620	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.6	4.74	0.59717	1.031000	0.29773	3.479000	0.38635	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.2088:0.0:0.6163:0.1749	4.416	0.10885	866	0.32446	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	855.98	34	chr6	152230553	.	G	C	855.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.198;DP=777;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.70;ReadPosRankSum=-1.829e+00;SOR=0.772	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1160	20	0	1	0
chr6	152331115	152331115	C	G	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon77:c.G13357C:p.V4453L	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.005	B	0.013	B	0.325	N	1.000	D	0	N	1.38	T	-0.982	T	0.014	T	0.053	0.267	5.442	0.886	-0.126	1.362	6.318	0.031	0.00754825800838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.034	0.53072	D	0.003	0.11197	B	0.004	0.10090	B	0.325020	0.14208	N	0.660669	1	0.81001	D	0.69	0.16971	N	1.38	0.34050	T	-0.86	0.23372	N	0.117	0.11340	-0.9824	0.34445	T	0.014	0.05513	T	10	0.042183667	0.02943	T	0.007548	0.20033	T	0.031	0.07369	0.323	0.30387	0.170165803431	0.16609	0.20548542717459714	0.20465	0.130822632684	0.14758	0.293257117271	0.09399	T	0.127862	0.45515	T	-0.311759	0.07593	T	-0.685596	0.06647	T	0.025374189688588	0.01322	T	0.79652	0.44001	T	0.047435828	0.08107	0.051205635	0.08193	0.047435828	0.08107	0.051205635	0.08192	-0.288	0.00468	T	.	.	0.131	0.28145	B	.;.	.;.	0.577523	0.09458	6.239	0.69415960505877994	0.08965	0.95287	0.64137	D	AEFDBI	0.517551	0.54362	D	-0.98190325063367	0.08989	0.4236828	-0.848130851139563	0.13332	0.6910612	0.0729640935166664	0.15619	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	6.03	0.886	0.18329	1.409000	0.34288	-0.077000	0.12225	-0.313000	0.06017	1.000000	0.71638	0.000000	0.08366	0.599000	0.31363	0.0:0.5304:0.1169:0.3527	6.318	0.20409	847	0.35998	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	718.73	89	chr6	152331115	.	C	G	718.73	.	AC=6;AF=0.200;AN=30;BaseQRankSum=-4.924e+00;DP=3151;ExcessHet=1.7912;FS=264.883;InbreedingCoeff=-0.2612;MLEAC=7;MLEAF=0.233;MQ=60.00;MQRankSum=0.00;QD=0.72;ReadPosRankSum=1.87;SOR=10.735	GT:AD:DP:GQ:PL	0/0:117,42:166:35:0,35,2401	9	0	6	6
chr6	152353329	152353329	C	A	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon69:c.G11142T:p.K3714N	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	0	1505	17	0	0	17	0.00561612	.	.	195539	Arthrogryposis_multiplex_congenita_3,_myogenic_type|Autosomal_recessive_ataxia,_Beauce_type|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided|SYNE1-related_disorder	MONDO:MONDO:0032778,MedGen:C5193121,OMIM:618484|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.38	T	0.03	B	0.011	B	0.000	D	1.000	D	1.43	L	1.35	T	-1.076	T	0.049	T	0.055	1.431	10.72	3.05	0.801	0.359	4.006	0.043	0.0120286709403	0.0055	0.00139776	0.0044	0.0021	0.0016	0	0.0020	0.0067	0.0033	0.0018	0.0045342	701	154602	rs143070183	0.0077	0.0077	0.0079	0.0076	0.0095	0.0076	0.0076	0.0093	0.0093	0.0014	0.0020	0.0007	0	0.0018	0.0049	0.0095	0.0053	0.0017	0.0040	0.0040	0.0043	0.0038	0.0070	0.0038	0.0037	0.0065	0.0063	0.0018	0	0.0015	0.0006	0	0.0020	0.0068	0.0070	0.0019	0.0021	0.096	0.31088	T	0.242	0.24264	T	0.03	0.20002	B	0.007	0.12992	B	0.000324	0.45700	D	0.094194	0.980023	0.25141	N	1.385	0.34509	L	0.59	0.53943	T	-1.08	0.28084	N	0.329	0.36989	-1.0760	0.08144	T	0.049	0.20908	T	10	0.006750375	0.00153	T	0.012029	0.30231	T	0.043	0.11576	0.37	0.38013	0.393316636838	0.38940	0.09361250396709075	0.09293	0.315816098079	0.33860	0.464687168598	0.33952	T	0.15102	0.49077	T	-0.593327	0.00160	T	-0.615655	0.11530	T	0.0145913294034008	0.00300	T	0.774523	0.40643	T	0.08735227	0.20336	0.059891142	0.11315	0.06452599	0.13699	0.07164862	0.15365	-4.704	0.33453	T	.	.	0.292	0.52376	B	.;.;.	.;.;.	2.343113	0.30033	18.31	0.9441838105251773	0.24822	0.81010	0.40507	D	AEFBI	0.176546	0.30376	N	-0.436807943488156	0.24189	1.304381	-0.276927026790411	0.28861	1.612405	2.68049198754006E-4	0.06244	0.651	0.46895	0	0.573888	0.26702	0	0.573888	0.23631	0	0.683762	0.67416	0	.	.	5.75	3.05	0.34272	0.377000	0.20282	1.413000	0.26297	-0.176000	0.10722	0.995000	0.38783	1.000000	0.68203	0.979000	0.57723	0.0:0.4532:0.1678:0.379	4.006	0.09089	859	0.33891	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.04762	4340.08	34	chr6	152353329	.	C	A	4340.08	.	AC=2;AF=0.048;AN=42;DP=836;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.56;SOR=0.842	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	1	0	0
chr6	152390293	152390293	C	T	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon53:c.G8185A:p.V2729I	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	2	1505	15	0	0	15	0.00495868	.	.	195116	not_specified|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|Autosomal_recessive_ataxia,_Beauce_type|SYNE1-related_disorder|not_provided	MedGen:CN169374|MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.21	T	0.008	B	0.006	B	0.407	N	1.000	N	1.61	L	1.36	T	-1.054	T	0.023	T	0.078	2.728	15.08	-12.3	-2.435	-0.835	7.246	0.039	.	0.0072	0.00319489	0.0063	0.0014	0.0016	0.0001	0.0111	0.0090	0.0033	0.0035	0.0062224	962	154602	rs151091241	0.0075	0.0075	0.0074	0.0076	0.0083	0.0074	0.0073	0.0081	0.0081	0.0012	0.0017	0.0111	0.0002	0.0104	0.0063	0.0083	0.0064	0.0039	0.0067	0.0067	0.0069	0.0064	0.0097	0.0063	0.0062	0.0091	0.0088	0.0019	0.0285	0.0040	0.0127	0	0.0116	0.0034	0.0097	0.0057	0.0031	0.533	0.06957	T	0.141	0.33780	T	0.001	0.07471	B	0.001	0.04355	B	0.406975	0.04568	N	1.358490	1	0.08975	N	0.975	0.24501	L	1.36	0.34452	T	0.09	0.06253	N	0.118	0.10769	-1.0545	0.13172	T	0.023	0.09832	T	10	0.0038227737	0.00072	T	.	.	.	0.039	0.10176	.	.	0.0846915920261	0.08053	0.024331021736669012	0.02384	0.106343627862	0.12022	0.233329594135	0.02224	T	0.120855	0.44340	T	-0.681705	0.00047	T	-0.742604	0.03782	T	0.00260534037458298	0.00027	T	0.268673	0.04486	T	0.018339487	0.00355	0.02465878	0.00489	0.016190654	0.00182	0.026594866	0.00757	-3.85	0.21553	T	.	.	0.066	0.02313	B	.;.;.	.;.;.	-1.343160	0.00403	0.008	0.68992732397319667	0.08831	0.01856	0.05735	N	AEFI	0.081305	0.16450	N	-1.58915516320912	0.01319	0.05746705	-1.70972514132429	0.01095	0.04919225	0.999999974319441	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.17	-12.3	0.00001	-0.705000	0.05154	-14.321000	0.00410	-1.988000	0.00457	0.000000	0.06391	0.000000	0.08366	0.206000	0.22070	0.0662:0.2809:0.1314:0.5215	7.246	0.25296	863	0.32847	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1563.98	110	chr6	152390293	.	C	T	1563.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=906;ExcessHet=0.0000;FS=0.742;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.22;ReadPosRankSum=1.58;SOR=0.567	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr6	152401319	152401319	T	C	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon47:c.A6869G:p.Q2290R	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.067	B	0.012	B	0.000	D	1.000	D	1.23	L	1.29	T	-1.094	T	0.041	T	0.379	2.189	13.28	5.82	2.223	3.708	16.174	0.048	0.0153045295158	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303	0.14352	T	0.759	0.05345	T	0.003	0.11197	B	0.002	0.06944	B	0.000022	0.55875	D	0.000000	0.993949	0.29270	N	2.045	0.56016	M	1.29	0.35775	T	-0.84	0.22944	N	0.48	0.57775	-1.0943	0.04854	T	0.041	0.17785	T	10	0.24553087	0.41803	T	0.015305	0.35967	T	0.048	0.13305	0.221	0.14371	0.411665641125	0.40782	0.10621293164584546	0.10551	0.146165741944	0.16499	0.489404797554	0.37355	T	0.127004	0.45375	T	-0.118683	0.33338	T	-0.408257	0.32427	T	0.426892491444524	0.29946	T	0.848615	0.53011	T	0.22798643	0.45510	0.22733557	0.47740	0.22798643	0.45510	0.22733557	0.47739	-3.803	0.20849	T	.	.	0.107	0.20235	B	.;.;.	.;.;.	2.909934	0.38592	20.8	0.98011153014636709	0.37559	0.96791	0.70958	D	AEFBI	0.656371	0.62838	D	-0.083792211241366	0.38103	2.226566	0.116104568689682	0.45372	2.801541	0.999999973159148	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.82	5.82	0.92740	3.904000	0.56038	7.784000	0.68736	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.174	0.81654	867	0.32089	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	620.98	66	chr6	152401319	.	T	C	620.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.919e+00;DP=840;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.41;ReadPosRankSum=0.989;SOR=0.653	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr6	152430487	152430487	T	C	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon35:c.A4705G:p.R1569G	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.102	B	0.031	B	0.460	N	1.000	N	1.245	L	0.69	T	-1.020	T	0.039	T	0.256	0.956	8.897	3.05	0.429	0.170	8.299	0.044	0.0132726760451	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs370852402	5.474e-06	5.472e-06	4.085e-06	6.877e-06	0.0005	2.36e-06	1.7e-06	0.0001	7.544e-05	0	0	0	0	0	0.0005	3.598e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.34982	T	0.243	0.37730	T	0.015	0.25827	B	0.015	0.21939	B	0.460380	0.12399	N	0.747348	1	0.08975	N	2.14	0.59869	M	0.69	0.51714	T	-3.49	0.68056	D	0.276	0.35301	-1.0198	0.23780	T	0.039	0.16806	T	10	0.10978812	0.20494	T	0.013273	0.32542	T	0.044	0.11924	.	.	0.367612772649	0.36367	0.09791945007962825	0.09722	0.178643808074	0.20102	0.238798081875	0.02683	T	0.538607	0.84161	D	-0.171454	0.25013	T	-0.484058	0.24015	T	0.197325617074966	0.20267	T	0.871113	0.60266	D	0.17846175	0.38867	0.20661245	0.44884	0.17846175	0.38867	0.20661245	0.44883	-5.264	0.39586	T	.	.	0.077	0.07889	B	.;.;.;.	.;.;.;.	1.800227	0.22880	15.80	0.95721570638539377	0.27646	0.09849	0.15511	N	AEFGI	0.198522	0.32538	N	-0.63811962347955	0.17808	0.9194851	-0.570154527239195	0.20273	1.091484	0.0012108428971577	0.08334	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.57	3.05	0.34272	0.173000	0.16538	1.951000	0.29885	0.661000	0.55757	0.000000	0.06391	0.032000	0.21310	0.892000	0.42986	0.0:0.0663:0.2486:0.6851	8.299	0.31164	748	0.52143	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	895.98	35	chr6	152430487	.	T	C	895.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.190e-01;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=-9.580e-01;SOR=0.674	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr6	152433878	152433878	C	T	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon34:c.G4399A:p.V1467I	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	301996	Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|Autosomal_recessive_ataxia,_Beauce_type|not_provided	MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.19	T	0.002	B	0.001	B	0.227	N	1.000	N	0.69	N	1.36	T	-1.068	T	0.041	T	0.031	1.485	10.91	-7.11	-1.432	-1.521	18.974	0.070	0.00369947736896	.	0.000199681	0.0002	0	0.0003	0.0003	0	0.0002	0	0.0001	0.000207	32	154602	rs376463379	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0005	0.0004	5.976e-05	0.0002	0	0.0007	0	0	0.0001	0.0001	9.276e-05	0.0001	0.0001	0.0002	0.0001	0.0008	9.741e-05	8.255e-05	0.0003	0.0002	0.0001	0	0	0	0.0008	0	0	0.0002	0	0.0002	0.504	0.17881	T	0.518	0.18232	T	0.002	0.09854	B	0.0	0.04355	B	0.226792	0.03492	N	1.566410	1	0.08975	N	-0.51	0.02586	N	1.36	0.34452	T	-0.04	0.07882	N	0.044	0.06990	-1.0680	0.09858	T	0.041	0.17530	T	10	0.017098635	0.00363	T	0.003699	0.08558	T	0.070	0.20419	.	.	0.0986583533028	0.09354	0.024673452279633634	0.02418	0.105802100972	0.11961	0.207214340568	0.00699	T	0.078336	0.35868	T	-0.619785	0.00110	T	-0.827731	0.01303	T	0.0101372020909947	0.00137	T	0.738026	0.36245	T	0.028261343	0.02137	0.046550453	0.06513	0.028261343	0.02136	0.046550453	0.06512	-4.362	0.29037	T	.	.	0.062	0.01309	B	.;.;.;.	.;.;.;.	-0.551945	0.01707	0.125	0.72890113557681602	0.10132	0.01629	0.05256	N	AEFI	0.067500	0.13272	N	-1.30804969420144	0.03582	0.1602787	-1.34230790457454	0.03897	0.182738	0.0535540348591579	0.14942	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.83	-7.11	0.01389	-1.458000	0.02478	-7.369000	0.01171	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.975000	0.56047	0.0:0.6983:0.0:0.3017	18.974	0.92704	734	0.53889	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0.02381	1701.98	34	chr6	152433878	.	C	T	1701.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.460e-01;DP=806;ExcessHet=0.0000;FS=3.356;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=-9.530e-01;SOR=0.449	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1140	20	0	1	0
chr6	152458782	152458782	C	G	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon22:c.G2564C:p.S855T	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1450490	not_provided|Autosomal_recessive_ataxia,_Beauce_type|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant	MedGen:C3661900|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.4	T	0.012	B	0.015	B	0.001	D	1.000	D	-0.255	N	1.4	T	-1.081	T	0.030	T	0.18	1.527	11.06	4.41	2.643	2.792	12.773	0.029	0.00370288297514	.	.	6.596e-05	0	8.675e-05	0	0	7.499e-05	0.0011	6.058e-05	5.17e-05	8	154602	rs770713708	2.873e-05	2.873e-05	2.042e-05	3.713e-05	0.0003	2.152e-05	1.908e-05	6.246e-05	4.757e-05	0	6.709e-05	0	0	0	0.0003	2.158e-05	4.968e-05	0.0001	5.255e-05	5.25e-05	6.424e-05	4.032e-05	0.0002	2.556e-05	1.829e-05	2.847e-05	1.858e-05	0	0	6.542e-05	0	0	0	0	7.351e-05	0.0005	0.0002	0.957	0.06049	T	0.953	0.05109	T	0.001	0.16265	B	0.001	0.17295	B	0.000736	0.42129	D	0.103648	0.997547	0.23892	N	0.845	0.21182	L	1.4	0.33630	T	-0.59	0.25551	N	0.196	0.36779	-1.0811	0.07137	T	0.030	0.13023	T	10	0.07813132	0.12416	T	0.003703	0.08558	T	0.029	0.06676	0.315	0.29096	0.405560941015	0.40167	0.05255457784577119	0.05197	0.12150308672	0.13691	0.467789173126	0.34377	T	0.099946	0.40525	T	-0.362878	0.03970	T	-0.556372	0.16720	T	0.038688737899065	0.03455	T	0.734827	0.36463	T	0.11044201	0.26106	0.09662227	0.22964	0.11044201	0.26106	0.09662227	0.22964	-3.614	0.19097	T	.	.	0.071	0.08512	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.905373	0.38521	20.8	0.86813218670706338	0.16790	0.11487	0.16666	N	AEFDBHCIJ	0.198494	0.32535	N	-0.278909471554535	0.29963	1.666416	-0.0455687438407069	0.37682	2.209696	0.99999999999116	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.600164	0.37192	1	.	.	5.34	4.41	0.52588	2.506000	0.45093	6.206000	0.54953	0.599000	0.40250	0.528000	0.27173	1.000000	0.68203	0.980000	0.58198	0.0:0.6081:0.3919:0.0	12.773	0.56812	690	0.58899	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.04762	2369.08	44	chr6	152458782	.	C	G	2369.08	.	AC=2;AF=0.048;AN=42;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.61;SOR=1.165	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	1	0	0
chr6	154039729	154039729	-	CGG	exonic	OPRM1	.	nonframeshift insertion	OPRM1:NM_000914:exon1:c.185_186insCGG:p.G63_S64insG	.	.	423	1079	20	0	0	20	0.00918274	.	.	2820830	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0042	0.00259585	0.0074	0.0012	0.0019	0	0.0070	0.0096	0.0079	0.0095	0.0043031	112	26028	rs576853670	0.0068	0.0068	0.0067	0.0069	0.0097	0.0067	0.0066	0.0091	0.0089	0.0010	0.0028	0.0037	2.519e-05	0.0063	0.0064	0.0073	0.0063	0.0097	0.0051	0.0051	0.0054	0.0049	0.0079	0.0048	0.0047	0.0073	0.0071	0.0016	0.0011	0.0042	0.0060	0	0.0043	0.0068	0.0079	0.0057	0.0062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2922.94	36	chr6	154039729	.	C	CCGG	2922.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.196e+00;DP=845;ExcessHet=0.0000;FS=8.827;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=24.56;ReadPosRankSum=0.072;SOR=0.739	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1351	20	0	1	0
chr6	154406433	154406433	G	A	exonic	CNKSR3	.	nonsynonymous SNV	CNKSR3:NM_001368119:exon10:c.C1064T:p.S355F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.371	B	0.197	B	0.559	N	1.000	N	1.5	L	1.33	T	-0.972	T	0.073	T	0.206	1.208	9.904	2.97	1.173	3.146	14.922	0.057	0.014169001466	.	0.000199681	2.471e-05	9.61e-05	8.642e-05	0	0	0	0	6.056e-05	2.59e-05	4	154602	rs146062752	1.3e-05	1.3e-05	8.167e-06	1.788e-05	0.0001	8.31e-06	6.7e-06	7.997e-05	6.236e-05	2.987e-05	0	0	2.519e-05	0	0	2.698e-06	3.311e-05	0.0001	1.97e-05	1.968e-05	0	4.028e-05	0.0002	5.24e-06	2.45e-06	7.98e-06	2.98e-06	4.814e-05	0	0	0	0	0	0	0	0	0.0002	0.004	0.65419	D	0.017	0.60972	D	0.371	0.34093	B	0.197	0.36707	B	0.558874	0.11357	N	0.787438	1	0.08975	N	1.935	0.51832	L	0.73	0.50721	T	-1.93	0.44852	N	0.117	0.10626	-0.9721	0.36755	T	0.073	0.29451	T	10	0.11287314	0.21186	T	0.014169	0.34105	T	0.057	0.16321	.	.	0.413635276047	0.40977	0.31476208348370155	0.31389	0.374703731158	0.38933	.	.	.	0.277386	0.65001	T	-0.345876	0.04991	T	-0.460303	0.26565	T	0.136203393340111	0.15944	T	0.742826	0.36203	T	0.12133997	0.28535	0.20054865	0.43992	0.12133997	0.28535	0.20054865	0.43991	-6.032	0.46546	T	.	.	0.087	0.17445	B	.;.	.;.	2.825852	0.37236	20.4	0.9925051074595338	0.56858	0.77533	0.38132	D	AEFDBI	0.394214	0.47156	N	-0.250065127649039	0.31101	1.740571	-0.271952134116999	0.29026	1.622986	0.999728663915406	0.42220	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.93	2.97	0.33479	3.208000	0.50816	4.860000	0.45461	0.676000	0.76740	0.924000	0.32081	0.992000	0.31684	0.060000	0.15972	0.0:0.2707:0.7293:0.0	14.922	0.70489	861	0.33516	Connector enhancer of kinase suppressor of ras 2;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1626.98	33	chr6	154406433	.	G	A	1626.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.12;DP=811;ExcessHet=0.0000;FS=0.710;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.93;ReadPosRankSum=-2.190e-01;SOR=0.775	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr6	154406549	154406549	C	G	exonic	CNKSR3	.	nonsynonymous SNV	CNKSR3:NM_001368117:exon13:c.G1385C:p.G462A,	.	.	436	1075	10	1	0	12	0.00555042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000798722	0.0003	0.0002	0	0	0	4.495e-05	0.0022	0.0016	0.0002523	39	154602	rs371630299	0.0002	0.0002	0.0001	0.0002	0.0023	0.0002	0.0002	0.0013	0.0012	8.961e-05	4.472e-05	0	0	0	0.0023	8.813e-05	0.0003	0.0015	0.0002	0.0002	0.0002	0.0002	0.0021	0.0001	0.0001	0.0011	0.0009	0.0002	0	0	0	0	0	0.0034	0.0001	0	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.02381	1587.98	33	chr6	154406549	.	C	G	1587.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.937;DP=825;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=0.025;SOR=0.720	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr6	154832908	154832908	A	G	exonic	SCAF8	.	nonsynonymous SNV	SCAF8:NM_014892:exon20:c.A3329G:p.Y1110C	.	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.681	P	0.215	B	0.031	U	0.998	N	0.695	N	0.9	T	-1.020	T	0.025	T	0.297	2.180	13.24	-11.5	-1.473	0.259	18.554	0.077	0.00555965951613	.	.	4.957e-05	0	0.0003	0	0	1.5e-05	0	6.061e-05	4.53e-05	7	154602	rs772798509	1.642e-05	1.642e-05	1.906e-05	1.375e-05	0.0002	1.111e-05	9.33e-06	0.0001	9.193e-05	0	0.0002	0	0	0	0	1.079e-05	1.656e-05	1.159e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.045	0.46513	D	0.123	0.36233	T	0.681	0.41422	P	0.215	0.37512	B	0.030885	0.25245	U	0.372495	1	0.22236	N	0.805	0.20218	L	0.9	0.46028	T	-2.05	0.47008	N	0.251	0.33904	-1.0202	0.23649	T	0.025	0.10598	T	10	0.08738288	0.14947	T	0.00556	0.14349	T	0.077	0.22490	0.266	0.21261	0.110392049598	0.10638	0.09077856278488655	0.09010	0.340426833896	0.35984	0.630356490612	0.57196	T	0.041503	0.25880	T	-0.37757	0.03227	T	-0.486643	0.23744	T	0.0591438739753122	0.07033	T	0.927907	0.73422	D	0.08924125	0.20846	0.15241167	0.35859	0.08924125	0.20845	0.15241167	0.35858	-5.604	0.42829	T	.	.	0.090	0.28348	B	.;.;.	.;.;.	2.482001	0.32005	18.91	0.94622216752877808	0.25201	0.66957	0.33260	D	AEFDBI	0.154104	0.27908	N	-1.00586118964388	0.08481	0.3978343	-1.09404501296518	0.07817	0.3817461	0.999999770142067	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.73	-11.5	0.00057	0.178000	0.16634	1.237000	0.25081	-0.103000	0.15852	0.962000	0.33725	0.758000	0.26602	0.856000	0.40543	0.1567:0.0:0.0:0.8433	18.554	0.91028	934	0.15400	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1350.98	33	chr6	154832908	.	A	G	1350.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.29;DP=867;ExcessHet=0.0000;FS=2.193;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.58;ReadPosRankSum=2.31;SOR=0.505	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1196	20	0	1	0
chr6	155137408	155137408	A	G	exonic	TIAM2	.	nonsynonymous SNV	TIAM2:NM_001384547:exon4:c.A1426G:p.I476V	.	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.0	B	0.001	B	0.172	N	1.000	N	-1.61	N	3.74	T	-0.896	T	0.001	T	0.056	-1.485	0.018	-6.69	-0.868	-0.744	4.856	0.007	.	.	0.00419329	0.0022	0	0.0007	0	0	1.498e-05	0.0033	0.0157	0.0019081	295	154602	rs567529147	0.0010	0.0010	0.0005	0.0014	0.0157	0.0009	0.0009	0.0150	0.0147	2.987e-05	0	0	0	0	0.0005	1.439e-05	0.0010	0.0157	0.0007	0.0007	0.0004	0.0009	0.0197	0.0006	0.0005	0.0165	0.0153	4.81e-05	0	6.536e-05	0	0	0	0	4.41e-05	0	0.0197	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.04355	B	0.171715	0.03115	N	1.616170	1	0.19853	N	-0.55	0.02420	N	3.74	0.04353	T	-0.11	0.08653	N	0.047	0.06454	-0.8964	0.48351	T	0.001	0.00348	T	10	0.003142655	0.00053	T	.	.	.	0.007	0.00512	.	.	0.112648838833	0.10856	0.2134569694971311	0.21261	0.182214089181	0.20484	0.201198101044	0.00493	T	0.00853	0.07826	T	-0.775344	0.00012	T	-0.873531	0.00710	T	0.00904257595884016	0.00113	T	0.0707929	0.03729	T	0.021349283	0.00733	0.022442508	0.00269	0.021349283	0.00732	0.022442508	0.00269	-2.389	0.05195	T	.	.	0.056	0.00573	B	.;.;.;.	.;.;.;.	-1.786700	0.00162	0.002	0.22366555187203574	0.00896	0.03312	0.08375	N	AEFDBI	0.044669	0.07217	N	-1.6952201643125	0.00859	0.037159	-1.66321170586946	0.01309	0.05906166	0.999690733902357	0.41870	0.562547	0.31514	0	0.588066	0.40923	0	0.489635	0.07774	0	0.635551	0.53088	0	.	.	6.08	-6.69	0.01608	-1.123000	0.03375	-3.476000	0.02758	-0.156000	0.11795	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.5128:0.2834:0.1149:0.0889	4.856	0.12919	546	0.72524	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1998.98	33	chr6	155137408	.	A	G	1998.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.299;DP=855;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.57;ReadPosRankSum=-1.880e-01;SOR=0.708	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1225	20	0	1	0
chr6	155176873	155176873	G	A	exonic	TIAM2	.	nonsynonymous SNV	TIAM2:NM_001384547:exon9:c.G2419A:p.A807T	.	.	435	1070	16	1	0	18	0.00834106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.002	B	0.004	B	0.667	N	1.000	N	0.205	N	3.65	T	-0.920	T	0.002	T	0.04	0.224	5.207	-10.6	-3.476	-1.179	1.430	0.011	0.00412485520317	0.0007	0.00159744	0.0015	9.66e-05	0.0002	0	0	0.0006	0	0.0087	0.001326	205	154602	rs35964434	0.0009	0.0009	0.0006	0.0012	0.0092	0.0009	0.0009	0.0087	0.0085	0.0002	6.709e-05	7.653e-05	0.0001	9.362e-05	0.0073	0.0004	0.0017	0.0092	0.0007	0.0007	0.0006	0.0008	0.0102	0.0006	0.0005	0.0079	0.0071	2.405e-05	0	0.0007	0.0003	0	9.418e-05	0.0170	0.0005	0.0019	0.0102	0.533	0.09687	T	0.675	0.06205	T	0.0	0.09854	B	0.002	0.10090	B	0.666996	0.06013	N	1.159380	1	0.08975	N	0	0.06538	N	3.65	0.05188	T	-0.3	0.11913	N	0.061	0.13911	-0.9198	0.45581	T	0.002	0.00556	T	10	0.0040363967	0.00078	T	0.004125	0.09869	T	0.011	0.01250	.	.	0.0716867268079	0.06686	0.24427617280808442	0.24341	0.212021421631	0.23700	0.231200873852	0.02058	T	0.011179	0.10005	T	-0.759165	0.00015	T	-0.857291	0.00872	T	0.0221722899805699	0.00928	T	0.506749	0.21633	T	0.030439578	0.02707	0.042848244	0.05196	0.030439578	0.02706	0.042848244	0.05196	-3.162	0.14802	T	.	.	0.063	0.01600	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.428380	0.00038	0.001	0.72413204547151	0.09965	0.02328	0.06665	N	AEFDGBHCI	0.024199	0.01460	N	-1.97331798650765	0.00241	0.01034099	-2.07623023375518	0.00210	0.009245261	0.999999999999982	0.74766	0.615465	0.37627	0	0.552344	0.17405	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.29	-10.6	0.00212	-1.179000	0.03200	-4.564000	0.02093	-1.347000	0.01197	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1751:0.2593:0.3102:0.2554	1.430	0.02190	738	0.53389	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1285.98	34	chr6	155176873	.	G	A	1285.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.314;DP=865;ExcessHet=0.0000;FS=2.924;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.30;ReadPosRankSum=-8.500e-02;SOR=0.699	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1338	20	0	1	0
chr6	156778292	156778292	-	CAG	exonic	ARID1B	.	nonframeshift insertion	ARID1B:NM_001374820:exon1:c.612_613insCAG:p.Q214_H215insQ	Coffin-Siris syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	207347	ARID1B-related_disorder|not_provided|Inborn_genetic_diseases|not_specified	.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0111	.	0.0068	0.0012	0.0057	0	0	0.0008	0.0137	0.0120	0.0003458	9	26028	rs1295097336	0.0017	0.0017	0.0014	0.0021	0.0116	0.0017	0.0016	0.0109	0.0107	0.0108	0.0008	0.0026	0.0042	0.0001	0.0005	0.0007	0.0017	0.0116	0.0039	0.0039	0.0039	0.0039	0.0132	0.0037	0.0036	0.0106	0.0098	0.0110	0	0.0007	0.0023	0.0034	0	0.0035	0.0010	0.0040	0.0132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	849.94	36	chr6	156778292	.	A	ACAG	849.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.000e-02;DP=852;ExcessHet=0.0000;FS=1.047;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.04;ReadPosRankSum=-5.520e-01;SOR=0.790	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1020	20	0	1	0
chr6	156778847	156778847	-	GGC	exonic	ARID1B	.	nonframeshift insertion	ARID1B:NM_001374820:exon1:c.1167_1168insGGC:p.G402_S403insG	Coffin-Siris syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	207352	not_provided|not_specified|Inborn_genetic_diseases|Coffin-Siris_syndrome_1	MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900,Orphanet:1465	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019	0.0189	0	0	.	0.0014	0	0.0016	0.0001746	27	154602	rs1296517130	0.0016	0.0016	0.0016	0.0016	0.0243	0.0016	0.0015	0.0227	0.0221	0.0243	0.0039	0.0014	0.0020	0.0008	0.0032	0.0010	0.0033	0.0018	0.0067	0.0072	0.0067	0.0067	0.0200	0.0064	0.0062	0.0189	0.0184	0.0200	0	0.0033	0.0029	0.0021	0.0007	0.0036	0.0012	0.0058	0.0032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	790.94	36	chr6	156778847	.	G	GGGC	790.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=849;ExcessHet=0.0000;FS=2.277;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.88;ReadPosRankSum=-7.880e-01;SOR=0.751	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,106,1147	20	0	1	0
chr6	156779356	156779356	G	C	exonic	ARID1B	.	nonsynonymous SNV	ARID1B:NM_001374820:exon1:c.G1676C:p.G559A	Coffin-Siris syndrome 1, Autosomal dominant	.	4	1517	1	0	0	1	0.000329489	.	.	2736218	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.29	T	0.002	B	0.007	B	0.240	N	0.982	N	0.345	N	4.7	T	-0.938	T	0.002	T	0.061	1.456	10.81	1.54	1.186	2.617	9.645	0.087	0.374501422523	.	.	0.0021	0	0	0	0	0	0	0.0044	7.12e-05	11	154602	rs777545755	3.644e-05	5.883e-05	1.912e-05	5.455e-05	0.0008	2.711e-05	2.44e-05	0.0006	0.0005	0	0	0	0	0	0	5.319e-06	4.637e-05	0.0008	6.744e-05	6.578e-05	6.592e-05	6.903e-05	0.0019	3.604e-05	2.78e-05	0.0010	0.0007	2.443e-05	0	0	0	0	0	0	0	0	0.0019	0.102	0.30235	T	0.443	0.13215	T	0.001	0.09854	B	0.003	0.12992	B	0.239822	0.03575	N	2.568780	0.981856	0.25008	N	1.245	0.31408	L	4.65	0.01779	T	-0.75	0.21003	N	0.101	0.08366	-0.9377	0.42979	T	0.002	0.00585	T	10	0.011467457	0.00250	T	0.374501	0.92825	D	0.087	0.25287	0.315	0.29096	0.143184338766	0.13958	0.11031842129521922	0.10960	0.565537076153	0.52891	0.943386077881	0.99573	D	0.017672	0.14377	T	-0.564902	0.00237	T	-0.670949	0.07548	T	0.0781142851310297	0.09743	T	0.822818	0.48291	T	0.15443559	0.34956	0.24644384	0.50154	0.15443559	0.34955	0.24644384	0.50153	-4.68	0.33161	T	.	.	0.233	0.52865	B	.;.;.;.	.;.;.;.	3.638693	0.51583	23.1	0.93368557003106556	0.23111	0.08682	0.14576	N	AEFDGBHCI	0.083556	0.16929	N	-0.472590113757143	0.22982	1.230947	-0.348356458898454	0.26561	1.467845	0.999999984216722	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.391439	0.06340	0	0.581474	0.35302	0	.	.	2.6	1.54	0.22290	1.933000	0.39783	6.067000	0.53222	0.477000	0.22036	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.3508:0.6492:0.0	9.645	0.39028	942	0.12992	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	408.98	36	chr6	156779356	.	G	C	408.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.275;DP=727;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=-4.350e-01;SOR=0.495	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1203	20	0	1	0
chr6	157206412	157206412	C	A	exonic	ARID1B	.	nonsynonymous SNV	ARID1B:NM_001363725:exon18:c.C3141A:p.S1047R	Coffin-Siris syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.001	B	0.002	B	0.002	N	1.000	N	1.04	L	4.79	T	-0.911	T	0.001	T	0.117	-1.233	0.057	-10.1	-2.545	-2.911	1.323	0.011	0.00656902526907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	0.0002	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.09319	T	0.289	0.21078	T	0.0	0.07471	B	0.001	0.06944	B	0.002081	0.00857	N	3.836750	0.999965	0.18878	N	0.69	0.16971	N	4.79	0.02084	T	-1.05	0.28703	N	0.11	0.09631	-0.9108	0.46756	T	0.001	0.00467	T	10	0.037344426	0.02084	T	0.006569	0.17329	T	0.011	0.01250	0.185	0.09388	0.261638197198	0.25763	0.09338977125568121	0.09270	0.699661806568	0.61046	0.236031740904	0.02444	T	0.023543	0.17955	T	-0.351482	0.04634	T	-0.742656	0.03779	T	0.0620892532169819	0.07495	T	0.326667	0.07800	T	0.054411903	0.10434	0.03732615	0.03361	0.054411903	0.10434	0.03732615	0.03361	-4.048	0.24534	T	0.20972503848423527	0.28082	0.221	0.45211	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	-1.659122	0.00212	0.003	0.30922174104273681	0.01716	0.03586	0.08806	N	AEFBI	0.068459	0.13505	N	-1.9278743827323	0.00301	0.0129083	-2.05606341435033	0.00232	0.01022868	0.99999986730321	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.06	-10.1	0.00330	-1.706000	0.01995	-13.081000	0.00481	-0.249000	0.07183	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.2593:0.1121:0.3171:0.3114	1.323	0.01993	939	0.14249	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1205.98	34	chr6	157206412	.	C	A	1205.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.31;DP=809;ExcessHet=0.0000;FS=0.707;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.31;ReadPosRankSum=1.54;SOR=0.814	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1308	20	0	1	0
chr6	157318851	157318867	GCCCCAGCCCAGAGCTC	-	exonic	TMEM242	.	frameshift deletion	TMEM242:NM_018452:exon3:c.242_258del:p.R81Lfs*12,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	.	0.0001	0	0	0	0	0.0002	0	0	3.84e-05	1	26028	rs781531293	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0	0	0	0	0	0.0002	0.0003	0.0003	0	8.538e-05	8.536e-05	7.706e-05	9.41e-05	0.0002	4.955e-05	3.961e-05	0.0001	7.892e-05	0	0	6.543e-05	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2788.94	34	chr6	157318850	.	AGCCCCAGCCCAGAGCTC	A	2788.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=859;ExcessHet=0.0000;FS=8.305;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.76;ReadPosRankSum=0.276;SOR=0.471	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1073	20	0	1	0
chr6	158033543	158033543	C	T	exonic	SYNJ2	.	nonsynonymous SNV	SYNJ2:NM_003898:exon4:c.C574T:p.R192C,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.999	D	0.000	D	1.000	D	2.75	M	0.25	T	-0.212	T	0.397	T	0.963	2.992	15.98	5.18	2.707	5.605	18.890	0.523	0.0223118399378	0.0002	.	2.475e-05	0	0	0	0	4.505e-05	0	0	2.59e-05	4	154602	rs200842364	5.199e-05	5.199e-05	5.99e-05	4.4e-05	0.0002	4.258e-05	3.888e-05	4.813e-05	4.423e-05	0	0	0	0	0	0.0002	6.025e-05	0.0001	1.159e-05	8.539e-05	8.536e-05	6.421e-05	0.0001	0.0002	4.956e-05	3.961e-05	9.045e-05	7.01e-05	4.824e-05	0	0	0	0	0	0	0.0002	0	0	0.089	0.32141	T	0.037	0.51737	D	1.0	0.90584	D	0.999	0.92359	D	0.000009	0.62929	D	0.000000	1	0.81001	D	1.82	0.47800	L	0.25	0.59449	T	-7.14	0.94073	D	0.857	0.85343	-0.2121	0.77359	T	0.397	0.74937	T	10	0.82197756	0.81396	D	0.022312	0.45185	T	0.523	0.79765	.	.	0.818191589246	0.81648	0.5656272831514451	0.56489	0.352284646822	0.37065	0.652710139751	0.60371	T	0.743375	0.92911	D	0.201658	0.74047	D	0.159549	0.80779	D	0.680972462872584	0.39832	D	0.957504	0.89491	D	0.43522254	0.63093	0.31723073	0.57699	0.43522254	0.63094	0.31723073	0.57698	-7.372	0.56707	T	.	.	0.201	0.42520	B	.;.	.;.	5.386420	0.90253	31	0.99924374347337108	0.98980	0.96413	0.69016	D	AEFDBI	0.686643	0.64825	D	0.715857996583858	0.80673	7.346448	0.630142552121096	0.77141	6.62223	1.0	0.98316	0.706548	0.73137	0	0.546412	0.12157	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.18	5.18	0.71140	4.715000	0.61600	5.846000	0.50293	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.459000	0.28096	0.0:1.0:0.0:0.0	18.890	0.92370	970	0.06235	SAC domain|SAC domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2145.98	34	chr6	158033543	.	C	T	2145.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.45;DP=879;ExcessHet=0.0000;FS=1.852;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=0.889;SOR=0.855	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1395	20	0	1	0
chr6	158064655	158064655	C	T	exonic	SYNJ2	.	nonsynonymous SNV	SYNJ2:NM_001178088:exon9:c.C553T:p.R185C	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.97	M	1.67	T	-0.662	T	0.187	T	0.955	3.770	19.14	5.35	2.513	3.508	14.021	0.441	0.133535047678	.	0.000199681	0.0001	9.638e-05	0	0	0.0006	3.006e-05	0	0.0007	0.0001358	21	154602	rs563234772	8.551e-05	8.551e-05	7.079e-05	0.0001	0.0006	7.312e-05	6.816e-05	0.0005	0.0004	5.974e-05	8.944e-05	0	0.0002	0.0004	0.0002	2.788e-05	0.0001	0.0006	0.0001	0.0001	3.854e-05	0.0002	0.0008	7.086e-05	5.743e-05	0.0003	0.0002	2.406e-05	0	0	0	0	0.0008	0	4.411e-05	0	0.0008	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.92359	D	0.000005	0.62929	D	0.000000	1	0.81001	D	2.565	0.75005	M	1.67	0.27331	T	-7.46	0.94928	D	0.876	0.87373	-0.6617	0.62201	T	0.187	0.53752	T	10	0.32470226	0.49791	T	0.133535	0.81592	D	0.441	0.74447	0.478	0.55663	0.602027889807	0.59885	0.5159077481706351	0.51513	0.88249259493	0.69822	0.552255153656	0.46176	T	0.807328	0.95148	D	-0.0133333	0.49797	T	0.107234	0.77390	D	0.933168888092041	0.59972	D	0.979402	0.92878	D	0.6214639	0.73842	0.4849874	0.70189	0.6214639	0.73843	0.4849874	0.70190	-10.764	0.79267	D	.	.	0.551	0.66846	A	.;.;.	.;.;.	5.347869	0.89711	31	0.99934289656698494	0.99535	0.96026	0.67198	D	AEFDBI	0.557800	0.56728	D	0.767510465260961	0.84040	8.177967	0.701972998334026	0.82528	7.789451	1.0	0.98316	0.67177	0.52595	0	0.588066	0.40923	0	0.608524	0.38960	0	0.711	0.71501	0	.	.	5.35	5.35	0.76297	3.566000	0.53550	5.934000	0.51367	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.729000	0.35066	0.1511:0.8489:0.0:0.0	14.021	0.64073	958	0.09170	SAC domain;.;SAC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	867.98	36	chr6	158064655	.	C	T	867.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.58;DP=822;ExcessHet=0.0000;FS=8.044;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.82;ReadPosRankSum=0.307;SOR=1.408	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1302	20	0	1	0
chr6	158074732	158074732	T	G	exonic	SYNJ2	.	nonsynonymous SNV	SYNJ2:NM_001178088:exon15:c.T1575G:p.S525R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.993	D	0.928	D	0.000	D	1.000	D	1.11	L	-3.62	D	0.296	D	0.735	D	0.592	3.012	16.05	0.159	2.689	0.439	5.061	0.602	0.0255360553826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.852e-07	6.84e-07	1.363e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.34269	T	0.372	0.48336	T	0.993	0.65571	D	0.928	0.66279	D	0.000002	0.62929	D	0.000000	0.897917	0.36102	D	0.475	0.13142	N	-3.62	0.95077	D	-1.54	0.37375	N	0.407	0.51405	0.296	0.87501	D	0.735	0.90944	D	10	0.36703265	0.53183	T	0.025536	0.48504	D	0.602	0.84291	0.404	0.43573	0.890976877463	0.88990	0.6691581130410788	0.66853	0.241334213525	0.26659	0.570595741272	0.48762	T	0.523591	0.85747	D	0.13332	0.67683	D	-0.0462718	0.67276	D	0.638360440731049	0.37968	D	0.862314	0.57956	D	0.10877813	0.25719	0.11578164	0.27951	0.10877813	0.25719	0.11578164	0.27950	-9.854	0.73726	D	.	.	0.564	0.67394	P	.;.;.;.	.;.;.;.	3.307288	0.45428	22.1	0.99473336094190634	0.66472	0.96029	0.67212	D	AEFBI	0.315429	0.42000	N	0.340894364438348	0.58260	3.997292	0.32233210226104	0.56856	3.849515	0.999907783029952	0.45458	0.706548	0.73137	0	0.588066	0.40923	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.7	0.159	0.14256	0.308000	0.19071	0.100000	0.14636	-1.508000	0.01019	0.998000	0.41325	0.984000	0.30665	0.890000	0.42831	0.1255:0.3148:0.0:0.5597	5.061	0.13892	958	0.09170	Endonuclease/exonuclease/phosphatase|Inositol polyphosphate-related phosphatase;.;Endonuclease/exonuclease/phosphatase|Inositol polyphosphate-related phosphatase;Inositol polyphosphate-related phosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	686.98	35	chr6	158074732	.	T	G	686.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.159e+00;DP=772;ExcessHet=0.0000;FS=1.883;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.38;ReadPosRankSum=2.26;SOR=0.458	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1305	20	0	1	0
chr6	158502650	158502650	T	C	exonic	TULP4	.	nonsynonymous SNV	TULP4:NM_020245:exon13:c.T2987C:p.L996P,	.	.	410	1111	1	0	0	1	0.000449843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.884	P	0.657	P	0.000	D	1.000	D	1.7	L	-0.41	T	-0.638	T	0.219	T	0.789	2.635	14.77	3.13	1.741	5.436	10.589	0.403	0.20433020624	.	.	6.175e-05	0	0	0	0	0.0001	0	0	3.88e-05	6	154602	rs201772574	6.947e-05	6.772e-05	6.814e-05	7.082e-05	0.0021	5.816e-05	5.396e-05	0.0012	0.0010	0	0	0	0	0	0.0021	7.197e-05	0.0001	2.393e-05	6.572e-05	6.562e-05	6.428e-05	6.722e-05	0.0001	3.517e-05	2.616e-05	5.846e-05	4.242e-05	0	0	0	0	0	0	0.0068	0.0001	0	0	0.037	0.43085	D	0.252	0.23570	T	0.884	0.48618	P	0.657	0.52725	P	0.000038	0.55875	D	0.073574	0.999999	0.81001	D	1.545	0.39105	L	-0.41	0.69413	T	-1.3	0.32590	N	0.854	0.85027	-0.6382	0.63222	T	0.219	0.58150	T	10	0.7101394	0.72991	D	0.20433	0.86925	D	0.403	0.71636	0.394	0.41935	0.494500015766	0.49084	0.6519271474819677	0.65128	0.819386861331	0.67090	0.858804345131	0.90934	D	0.024141	0.18296	T	-0.004859	0.50982	T	-0.0190543	0.69090	D	0.298896491527557	0.24958	T	0.731927	0.34732	T	0.36737302	0.58390	0.36896607	0.62176	0.36737302	0.58390	0.36896607	0.62176	-3.782	0.20536	T	.	.	0.252	0.48644	B	.	.	3.635967	0.51531	23.1	0.99686756375880503	0.79641	0.98046	0.79143	D	AEFDBI	0.727048	0.67552	D	0.306607281987457	0.56487	3.813483	0.26509343879709	0.53514	3.519808	0.995767244480802	0.34312	0.646311	0.45356	0	0.546412	0.12157	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.39	3.13	0.35090	4.326000	0.59028	4.006000	0.41118	0.602000	0.45918	1.000000	0.71638	0.999000	0.35428	0.652000	0.32748	0.1439:0.0:0.0:0.8561	10.589	0.44490	693	0.58582	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	989.98	56	chr6	158502650	.	T	C	989.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.649;DP=1329;ExcessHet=0.0000;FS=0.855;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=0.587;SOR=0.517	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	20	0	1	0
chr6	158503306	158503306	C	T	exonic	TULP4	.	nonsynonymous SNV	TULP4:NM_020245:exon13:c.C3643T:p.P1215S,	.	.	431	1075	16	0	0	16	0.00738689	.	.	2828089	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.42	T	0.002	B	0.003	B	0.000	D	1.000	D	1.12	L	2.02	T	-1.066	T	0.019	T	0.232	0.240	5.298	3.28	0.711	1.733	15.500	0.044	0.00776409537166	0.0032	0.00159744	0.0025	9.636e-05	0.0016	0.0001	0.0017	0.0030	0.0055	0.0038	0.0023092	357	154602	rs34395018	0.0026	0.0026	0.0026	0.0027	0.0049	0.0026	0.0025	0.0034	0.0033	0.0002	0.0012	0.0140	7.557e-05	0.0015	0.0049	0.0025	0.0030	0.0038	0.0020	0.0020	0.0021	0.0018	0.0058	0.0018	0.0017	0.0041	0.0036	0.0003	0.0022	0.0014	0.0130	0	0.0008	0	0.0026	0.0019	0.0058	0.185	0.21550	T	0.837	0.03642	T	0.002	0.09854	B	0.003	0.08700	B	0.000108	0.50451	D	0.177152	1	0.81001	D	0.95	0.23787	L	2.02	0.21119	T	-0.68	0.19509	N	0.101	0.08366	-1.0660	0.10316	T	0.019	0.07939	T	10	0.0028075874	0.00044	T	0.007764	0.20589	T	0.044	0.11924	.	.	0.082315109003	0.07666	0.4074727361748247	0.40663	0.23410116099	0.25944	0.423403203487	0.28305	T	0.012719	0.11127	T	-0.528079	0.00394	T	-0.531333	0.19154	T	0.00480502856579419	0.00052	T	0.725627	0.33984	T	0.05243216	0.09778	0.08808948	0.20519	0.05243216	0.09777	0.08808948	0.20518	-4.148	0.25995	T	.	.	0.076	0.05979	B	.	.	1.685817	0.21482	15.22	0.86066393770840699	0.16291	0.90874	0.52424	D	AEFDBI	0.191881	0.31906	N	-0.52677038843786	0.21218	1.124423	-0.43622951719758	0.23941	1.308365	0.97568999832254	0.29655	0.706298	0.61202	0	0.577304	0.33150	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.08	3.28	0.36691	1.774000	0.38203	1.394000	0.26140	0.599000	0.40250	0.994000	0.38300	0.974000	0.29927	0.739000	0.35404	0.0:0.738:0.262:0.0	15.500	0.75421	693	0.58582	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	675.98	69	chr6	158503306	.	C	T	675.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=1226;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.01;ReadPosRankSum=0.119;SOR=0.690	GT:AD:DP:GQ:PL	0/0:86,0:86:99:0,120,1800	20	0	1	0
chr6	158503978	158503978	G	A	exonic	TULP4	.	nonsynonymous SNV	TULP4:NM_020245:exon13:c.G4315A:p.A1439T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.452	B	0.074	B	0.000	D	1.000	D	0.46	N	-0.09	T	-1.043	T	0.067	T	0.285	1.109	9.522	4.65	1.473	6.152	14.688	0.173	0.0135802216796	7.7e-05	.	2.753e-05	0	9.705e-05	0	0	1.669e-05	0	6.391e-05	1.94e-05	3	154602	rs371614011	3.835e-05	3.899e-05	4.087e-05	3.579e-05	0.0009	3.028e-05	2.722e-05	0.0003	0.0002	0.0001	2.242e-05	3.833e-05	2.52e-05	0	0.0009	3.059e-05	8.287e-05	4.642e-05	7.221e-05	7.217e-05	8.992e-05	5.371e-05	0.0004	3.968e-05	3.125e-05	7.299e-05	3.045e-05	0.0001	0	0	0	0	0	0	5.88e-05	0	0.0004	0.056	0.38185	T	0.233	0.24913	T	0.452	0.36118	B	0.074	0.28220	B	0.000007	0.62929	D	0.108398	0.997476	0.81001	D	1.245	0.31408	L	-0.09	0.64086	T	-1.67	0.39887	N	0.298	0.33687	-1.0434	0.16294	T	0.067	0.27640	T	10	0.19827494	0.35791	T	0.01358	0.33091	T	0.173	0.43840	.	.	0.264728329957	0.26087	0.37881992315046675	0.37796	0.231309124043	0.25673	0.519865512848	0.41607	T	0.339437	0.70858	T	-0.236987	0.15735	T	-0.341524	0.40171	T	0.163855135440826	0.18152	T	0.839116	0.51273	T	0.065718815	0.14072	0.07790336	0.17400	0.065718815	0.14072	0.07790336	0.17400	-4.084	0.25054	T	.	.	0.077	0.06617	B	.	.	2.423597	0.31168	18.66	0.96884446144619651	0.31473	0.96591	0.69909	D	AEFDBI	0.511610	0.54017	D	-0.439139089039357	0.24110	1.299516	-0.364068442145708	0.26078	1.438097	0.998546932258256	0.37167	0.646311	0.45356	0	0.601575	0.49859	0	0.645312	0.48771	0	0.528226	0.09195	0	.	.	5.52	4.65	0.57626	6.234000	0.72276	6.650000	0.56213	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.001000	0.02609	0.07:0.0:0.93:0.0	14.688	0.68670	693	0.58582	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1447.98	69	chr6	158503978	.	G	A	1447.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.364;DP=1167;ExcessHet=0.0000;FS=3.794;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.78;ReadPosRankSum=1.06;SOR=0.893	GT:AD:DP:GQ:PL	0/1:45,53:98:99:1462,0,1162	20	0	1	0
chr6	158589648	158589648	G	A	exonic	TMEM181	.	nonsynonymous SNV	TMEM181:NM_001376817:exon6:c.G505A:p.A169T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.00219649	0.0006	0.0068	9.225e-05	0	0	0	0	0	0.0005175	80	154602	rs114540380	0.0002	0.0002	0.0002	0.0002	0.0061	0.0001	0.0001	0.0054	0.0051	0.0061	0.0003	0	0	0	0	9.16e-07	0.0003	2.334e-05	0.0018	0.0018	0.0019	0.0016	0.0063	0.0016	0.0015	0.0057	0.0054	0.0063	0	0.0003	0	0	0	0	0	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1351.98	35	chr6	158589648	.	G	A	1351.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.230e-01;DP=813;ExcessHet=0.0000;FS=2.456;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=0.487;SOR=0.474	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1227	20	0	1	0
chr6	158725512	158725512	G	A	exonic	SYTL3	.	nonsynonymous SNV	SYTL3:NM_001318745:exon8:c.G112A:p.A38T	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.009	B	0.004	B	0.194	N	0.999	N	-0.11	N	2.21	T	-1.008	T	0.006	T	0.048	1.196	9.858	-5.72	-1.369	-1.156	7.948	0.012	0.00298635262283	.	.	1.649e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs750019874	9.577e-06	9.577e-06	5.445e-06	1.375e-05	0.0002	5.56e-06	4.35e-06	8.887e-05	7.055e-05	0	0	0	0	0	0	8.993e-07	0	0.0002	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	0.747	0.05184	T	0.001	0.15093	B	0.001	0.10090	B	0.194266	0.03272	N	1.561630	1	0.21650	N	-0.245	0.03879	N	2.2	0.18570	T	-0.12	0.08809	N	0.066	0.03841	-1.0079	0.27572	T	0.006	0.02093	T	10	0.015941828	0.00335	T	0.002986	0.06369	T	0.012	0.01476	0.201	0.11522	0.0611884634855	0.05136	0.17441694059778903	0.17360	0.0169914472874	0.01642	0.232786029577	0.02181	T	0.004091	0.03502	T	-0.548415	0.00298	T	-0.822883	0.01395	T	0.018556058620157	0.00570	T	0.69713	0.30670	T	0.021507695	0.00757	0.04442486	0.05753	0.021507695	0.00757	0.04442486	0.05753	-4.155	0.33173	T	.	.	0.063	0.01408	B	.;.;.;.	.;.;.;.	-1.040523	0.00715	0.021	0.78976651193765823	0.12535	0.00877	0.03467	N	AEFDBI	0.028114	0.02418	N	-1.36855668143443	0.02937	0.13046	-1.37725390471095	0.03496	0.1631791	0.99288302115318	0.33004	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	4.42	-5.72	0.02211	-1.393000	0.02627	-1.284000	0.05818	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.245000	0.23132	0.6552:0.0:0.2144:0.1304	7.948	0.29157	762	0.50290	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1354.98	91	chr6	158725512	.	G	A	1354.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.430e-01;DP=909;ExcessHet=0.0000;FS=1.503;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.11;ReadPosRankSum=-6.060e-01;SOR=0.892	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1389	20	0	1	0
chr6	158745639	158745641	AAG	-	exonic	SYTL3	.	nonframeshift deletion	SYTL3:NM_001318745:exon9:c.397_399del:p.K136del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.697e-05	0	0	0	0	3.1e-05	0	0	2.59e-05	4	154602	rs772707010	3.108e-05	3.078e-05	3.983e-05	2.222e-05	3.973e-05	2.369e-05	2.115e-05	3.011e-05	2.682e-05	0	0	0	0	0	0	3.973e-05	1.671e-05	0	6.574e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1847.94	97	chr6	158745638	.	AAAG	A	1847.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=934;ExcessHet=0.0000;FS=4.059;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.05;ReadPosRankSum=-2.200e-02;SOR=1.152	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1237	20	0	1	0
chr6	158757284	158757284	G	A	exonic	SYTL3	.	nonsynonymous SNV	SYTL3:NM_001318745:exon11:c.G593A:p.R198Q	.	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.993	D	0.542	P	0.012	N	1.000	D	2.545	M	3.01	T	-1.135	T	0.032	T	0.54	3.828	19.44	5.07	2.356	5.236	12.329	0.187	0.0192244947482	0.0008	0.00159744	0.0004	0.0034	8.684e-05	0	0	0	0	0.0006	0.0003687	57	154602	rs61738619	0.0001	0.0001	0.0001	0.0001	0.0035	0.0001	9.835e-05	0.0030	0.0028	0.0035	2.236e-05	0	2.519e-05	0	0.0002	6.295e-06	0.0003	0.0003	0.0010	0.0010	0.0010	0.0010	0.0035	0.0008	0.0008	0.0030	0.0028	0.0035	0	0.0001	0	0	0	0.0068	0	0.0005	0	0.011	0.55530	D	0.155	0.31936	T	0.993	0.65571	D	0.542	0.48916	P	0.011813	0.29393	N	0.328929	0.99954	0.47497	D	2.23	0.63091	M	3.01	0.09075	T	-3.35	0.66436	D	0.476	0.53796	-1.1355	0.01536	T	0.032	0.13635	T	10	0.011210978	0.00246	T	0.019224	0.41523	T	0.187	0.46274	.	.	0.353336612579	0.34937	0.3467548130385146	0.34589	0.0355776231093	0.03753	0.45345968008	0.32417	T	0.231103	0.59734	T	-0.419951	0.01712	T	-0.375877	0.36204	T	0.067460038024288	0.08290	T	0.855714	0.54342	D	0.3633028	0.58086	0.25948423	0.51697	0.3633028	0.58086	0.25948423	0.51696	-10.279	0.76836	D	.	.	0.116	0.23219	B	.;.;.;.	.;.;.;.	5.113718	0.85502	28.6	0.99926206520833205	0.99103	0.92959	0.56970	D	AEFDBI	0.692849	0.65237	D	0.506861332321431	0.67496	5.089215	0.520283886975442	0.69355	5.348706	0.999999969287167	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.527494	0.11647	0	0.567892	0.33627	0	.	.	5.07	5.07	0.68106	5.311000	0.65574	7.467000	0.59112	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.897000	0.43391	0.0895:0.0:0.9105:0.0	12.329	0.54353	751	0.51694	.;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1023.98	36	chr6	158757284	.	G	A	1023.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.55;DP=794;ExcessHet=0.0000;FS=2.904;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.38;ReadPosRankSum=-6.500e-01;SOR=0.404	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1100	20	0	1	0
chr6	158762154	158762154	G	A	exonic	SYTL3	.	nonsynonymous SNV	SYTL3:NM_001318745:exon13:c.G875A:p.G292D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	0.938	N	2.465	M	3.21	T	-1.137	T	0.055	T	0.826	4.346	22.9	5.02	2.725	6.228	17.422	0.266	0.0430214793201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.019	0.59159	D	1.0	0.90584	D	0.999	0.97372	D	0.000265	0.46590	D	0.086604	0.961673	0.26877	N	3.165	0.88605	M	3.21	0.07125	T	-4.74	0.80172	D	0.737	0.77507	-1.1371	0.01470	T	0.055	0.23110	T	10	0.7708796	0.77072	D	0.043021	0.60770	D	0.266	0.57999	0.625	0.76028	0.439870908748	0.43606	0.5152576589467257	0.51448	0.144358480749	0.16299	0.707287311554	0.68200	T	0.194437	0.55022	T	0.129	0.67293	D	-0.0520456	0.66883	D	0.998655200004578	0.94768	D	0.89751	0.64163	D	0.87590367	0.89333	0.833779	0.90432	0.87590367	0.89334	0.833779	0.90432	-12.814	0.88582	D	.	.	0.501	0.64618	A	.;.;.;.	.;.;.;.	5.050179	0.84110	28.2	0.99853421218803318	0.93279	0.78255	0.38581	D	AEFDGBCI	0.482570	0.52338	N	0.707812690691719	0.80146	7.229775	0.619518538699354	0.76357	6.476367	0.999999999976561	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.536957	0.11973	0	0.664235	0.64389	0	.	.	5.02	5.02	0.66742	6.283000	0.72672	10.732000	0.83642	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	17.422	0.87409	751	0.51694	.;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1125.98	35	chr6	158762154	.	G	A	1125.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.110e-01;DP=823;ExcessHet=0.0000;FS=0.729;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.62;ReadPosRankSum=-1.040e-01;SOR=0.571	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1257	20	0	1	0
chr6	158776451	158776451	T	C	exonic	EZR	.	nonsynonymous SNV	EZR:NM_003379:exon7:c.A752G:p.N251S	.	.	423	1079	19	1	0	21	0.00963745	.	.	428594	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.46	T	0.191	B	0.299	B	0.000	D	1.000	D	-0.335	N	-1.53	D	-0.787	T	0.174	T	0.116	2.873	15.57	4.82	1.943	4.925	14.706	0.307	0.0507543470514	0.0005	0.000798722	0.0011	0.0002	0.0016	0.0001	0.0002	0.0006	0.0022	0.0045	0.0009379	145	154602	rs139467617	0.0007	0.0007	0.0006	0.0009	0.0047	0.0007	0.0007	0.0044	0.0042	0.0002	0.0015	0	0	0.0003	0.0026	0.0004	0.0012	0.0047	0.0006	0.0006	0.0005	0.0006	0.0035	0.0005	0.0004	0.0022	0.0018	0.0001	0	0.0007	0	0	0.0002	0.0034	0.0007	0.0024	0.0035	0.418	0.09896	T	0.437	0.13480	T	0.03	0.20002	B	0.03	0.21741	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.175	0.09039	N	-1.53	0.81559	D	-4.44	0.77637	D	0.418	0.46649	-0.7871	0.55898	T	0.174	0.51690	T	10	0.011818022	0.00257	T	0.050754	0.64375	D	0.307	0.62838	.	.	0.608299970385	0.60515	0.35303571300205716	0.35217	0.264651535542	0.29007	0.697936177254	0.66846	T	0.925362	0.98695	D	-0.404072	0.02177	T	-0.351969	0.38980	T	0.0626697409917224	0.07583	T	0.894311	0.63332	D	0.59275836	0.72300	0.42574635	0.66374	0.59275836	0.72301	0.42574635	0.66374	-9.129	0.68523	D	.	.	0.070	0.03661	B	.;.;.	.;.;.	3.220493	0.43878	21.8	0.99765355209756768	0.85417	0.93515	0.58427	D	AEFBCI	0.652847	0.62610	D	-0.208291807080447	0.32794	1.853399	0.00746469420816007	0.40060	2.384867	0.999999382922121	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.82	4.82	0.61641	4.909000	0.63010	4.153000	0.42161	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	14.706	0.68805	753	0.51500	FERM, C-terminal PH-like domain|FERM domain|FERM, C-terminal PH-like domain;FERM, C-terminal PH-like domain|FERM domain|FERM, C-terminal PH-like domain;FERM, C-terminal PH-like domain|FERM domain|FERM, C-terminal PH-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	630.98	34	chr6	158776451	.	T	C	630.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.918;DP=799;ExcessHet=0.0000;FS=0.924;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.64;ReadPosRankSum=-1.492e+00;SOR=0.903	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1084	20	0	1	0
chr6	158982588	158982588	G	A	exonic	RSPH3	.	nonsynonymous SNV	RSPH3:NM_001346418:exon3:c.C731T:p.A244V	Ciliary dyskinesia, primary, 32, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.987	D	0.000	D	1.000	D	2.865	M	2.13	T	-0.871	T	0.143	T	0.533	4.940	28.7	5.51	2.591	5.954	19.034	0.275	0.0240198120003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.736e-06	1.361e-06	2.75e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.025	0.56192	D	1.0	0.90584	D	0.984	0.76113	D	0.000000	0.84330	D	0.052159	0.99996	0.52935	D	3.35	0.91085	M	2.13	0.19588	T	-3.53	0.68532	D	0.36	0.40665	-0.8707	0.50476	T	0.143	0.46422	T	10	0.4521166	0.58763	T	0.02402	0.47001	T	0.275	0.59130	0.589	0.71749	0.40017627803	0.39633	0.30991423867951423	0.30904	0.953332268801	0.72727	0.46926882863	0.34580	T	0.167272	0.51383	T	-0.035668	0.46589	T	-0.289011	0.45875	T	0.985610544681549	0.76556	D	0.921908	0.72522	D	0.5146942	0.67953	0.3731767	0.62510	0.5146942	0.67954	0.3731767	0.62510	-9.589	0.71412	D	.	.	0.194	0.56566	B	.;.;.	.;.;.	4.757929	0.76898	26.6	0.99922760092353557	0.98852	0.97156	0.73019	D	AEFBI	0.816712	0.73838	D	0.857476557106716	0.89528	10.00954	0.813052665349675	0.90687	10.52147	0.99973207354764	0.42341	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.51	5.51	0.81769	6.085000	0.70992	9.802000	0.81700	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	19.034	0.92950	840	0.37365	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2965.98	45	chr6	158982588	.	G	A	2965.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.706e+00;DP=1002;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.01;ReadPosRankSum=-1.560e+00;SOR=0.723	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	20	0	1	0
chr6	158983727	158983727	G	C	exonic	RSPH3	.	nonsynonymous SNV	RSPH3:NM_031924:exon4:c.C427G:p.P143A,	Ciliary dyskinesia, primary, 32, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.844	P	0.487	P	0.000	N	1.000	D	1.44	L	2.24	T	-1.095	T	0.026	T	0.142	3.023	16.08	4.99	1.475	2.261	11.065	0.133	0.0111633165224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.26192	T	0.305	0.37173	T	0.844	0.46645	P	0.487	0.47260	P	0.000170	0.48594	N	0.215540	0.995924	0.81001	D	1.22	0.30592	L	2.24	0.17923	T	-4.72	0.79998	D	0.26	0.30233	-1.0952	0.04723	T	0.026	0.11131	T	10	0.31248105	0.48708	T	0.011163	0.28497	T	0.133	0.36157	0.698	0.83499	0.28058544554	0.27657	0.3305078705180137	0.32963	0.622078883374	0.56495	0.381396204233	0.22455	T	0.176439	0.52638	T	-0.243413	0.14916	T	-0.587423	0.13890	T	0.963352620601654	0.66634	D	0.907509	0.67274	D	0.15602826	0.35232	0.19854023	0.43691	0.15602826	0.35232	0.19854023	0.43690	-7.197	0.55460	T	.	.	0.055	0.01233	B	.;.	.;.	2.518882	0.32546	19.07	0.98754846296174958	0.45724	0.86036	0.45244	D	AEFI	0.178504	0.30577	N	0.13935599412722	0.48306	3.044743	0.209705451406937	0.50384	3.231136	0.190281270263459	0.17990	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.86	4.99	0.65942	2.343000	0.43657	3.411000	0.38190	-0.148000	0.12190	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0701:0.1309:0.7991:0.0	11.065	0.47188	840	0.37365	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	709.98	36	chr6	158983727	.	G	C	709.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.321e+00;DP=752;ExcessHet=0.0000;FS=5.557;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.65;ReadPosRankSum=0.424;SOR=0.652	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1254	20	0	1	0
chr6	159036794	159036794	C	G	exonic	TAGAP	.	nonsynonymous SNV	TAGAP:NM_001278733:exon6:c.G1040C:p.G347A	.	.	429	1079	13	1	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.003	B	0.893	N	1.000	N	-0.255	N	2.59	T	-0.929	T	0.005	T	0.028	-0.628	1.215	0.863	-0.126	-0.092	8.614	0.030	.	0.0015	0.00479233	0.0049	9.632e-05	0.0003	0.0001	0.0243	0.0030	0.0110	0.0132	0.0042237	653	154602	rs144047559	0.0037	0.0037	0.0034	0.0040	0.0125	0.0036	0.0036	0.0119	0.0117	0.0003	0.0006	0.0006	0	0.0214	0.0054	0.0025	0.0039	0.0125	0.0032	0.0032	0.0024	0.0041	0.0155	0.0030	0.0029	0.0127	0.0117	0.0002	0	0.0010	0.0006	0.0002	0.0186	0.0068	0.0027	0.0033	0.0155	0.776	0.03326	T	0.964	0.03039	T	0.001	0.07471	B	0.003	0.08700	B	0.892609	0.07305	N	1.048490	1	0.08975	N	1.05	0.26816	L	2.34	0.16351	T	-0.5	0.15782	N	0.017	0.00226	-0.9295	0.44212	T	0.005	0.01651	T	10	0.0031353533	0.00052	T	.	.	.	0.030	0.07022	.	.	0.043077524339	0.03247	0.17641509015634613	0.17560	0.32236699631	0.34429	0.240370839834	0.02824	T	0.021877	0.16964	T	-0.744083	0.00019	T	-0.830569	0.01252	T	0.00247982746466107	0.00026	T	0.413359	0.10763	T	0.028559336	0.02212	0.032357886	0.01958	0.028559336	0.02211	0.032357886	0.01958	-3.281	0.13493	T	.	.	0.077	0.12512	B	.;.	.;.	-0.458794	0.02002	0.177	0.10623666636609046	0.00139	0.04924	0.10679	N	AEFDBI	0.107186	0.21363	N	-1.23673434551937	0.04478	0.2021587	-1.17973110660382	0.06249	0.3002034	0.964498186892775	0.28764	0.562547	0.31514	0	0.653731	0.59785	0	0.478664	0.07449	1	0.564101	0.26826	0	.	.	5.93	0.863	0.18199	0.216000	0.17370	0.091000	0.14516	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.2801:0.5441:0.1758	8.614	0.32984	799	0.44747	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3411.11	43	chr6	159036794	.	C	G	3411.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.681;DP=1037;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=1.41;SOR=0.696	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	19	0	2	0
chr6	159233800	159233800	C	A	exonic	FNDC1	.	nonsynonymous SNV	FNDC1:NM_032532:exon11:c.C3288A:p.H1096Q,	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.586	P	0.321	B	0.080	N	1.000	N	0.805	L	3.95	T	-0.985	T	0.021	T	0.1	1.313	10.30	0.626	0.225	-0.360	2.285	0.023	0.0140862407451	0.0007	0.00199681	0.0019	0.0045	0.0060	0	0	0.0038	0	0.0002	0.000414	64	154602	rs377419969	0.0007	0.0007	0.0007	0.0007	0.0043	0.0006	0.0006	0.0037	0.0035	0.0043	0.0017	0.0144	0	0	0.0011	0.0003	0.0022	1.293e-05	0.0022	0.0022	0.0021	0.0023	0.0051	0.0020	0.0019	0.0045	0.0043	0.0051	0	0.0030	0.0127	0	0	0.0034	0.0004	0.0038	0.0002	0.06	0.37326	T	0.314	0.19480	T	0.451	0.36091	B	0.131	0.32951	B	0.079995	0.02343	N	1.953470	1	0.08975	N	1.445	0.36358	L	3.14	0.07920	T	-1.92	0.44657	N	0.111	0.09772	-0.9848	0.33879	T	0.021	0.08686	T	10	0.0035398304	0.00063	T	0.014086	0.33970	T	0.030	0.07022	0.192	0.10304	0.227260227426	0.22338	0.24123477099169047	0.24037	0.161493178693	0.18230	0.395314753056	0.24416	T	0.003235	0.02636	T	-0.668014	0.00056	T	-0.731104	0.04278	T	0.00699097976748374	0.00079	T	0.245375	0.03595	T	0.067034915	0.14478	0.064227805	0.12840	0.067034915	0.14477	0.064227805	0.12840	-2.685	0.07178	T	.	.	0.100	0.16973	B	.	.	0.328459	0.07025	3.586	0.73834868149393051	0.10472	0.09081	0.14908	N	AEFDBHCI	0.083277	0.16870	N	-0.921970774315492	0.10329	0.4930749	-1.04454427515696	0.08821	0.4356029	0.999720128616002	0.42220	0.623204	0.39778	0	0.563428	0.19063	0	0.378051	0.06126	2	0.562822	0.20929	0	.	.	4.15	0.626	0.16843	-0.495000	0.06524	-0.246000	0.10547	-0.629000	0.04519	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2388:0.4394:0.0:0.3219	2.285	0.03872	808	0.43318	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2094.98	65	chr6	159233800	.	C	A	2094.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.81;DP=1673;ExcessHet=0.0000;FS=2.053;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.16;ReadPosRankSum=0.441;SOR=0.536	GT:AD:DP:GQ:PL	0/0:90,0:90:99:0,120,1800	20	0	1	0
chr6	159234371	159234371	C	A	exonic	FNDC1	.	nonsynonymous SNV	FNDC1:NM_032532:exon11:c.C3859A:p.P1287T,	.	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.617	P	0.242	B	0.277	N	1.000	N	0.55	N	3.88	T	-0.965	T	0.020	T	0.157	1.975	12.56	-0.655	-0.201	0.370	6.490	0.015	0.00967601177096	.	0.000599042	0.0013	0.0002	0.0022	0	0.0003	0.0015	0.0023	0.0014	0.0010737	166	154602	rs201797201	0.0017	0.0017	0.0016	0.0017	0.0036	0.0016	0.0016	0.0024	0.0020	0.0003	0.0021	0.0006	0	0.0002	0.0036	0.0019	0.0015	0.0013	0.0014	0.0014	0.0015	0.0014	0.0041	0.0013	0.0012	0.0032	0.0030	0.0006	0	0.0041	0.0006	0	0.0002	0	0.0017	0.0009	0.0017	0.008	0.58626	D	0.37	0.16473	T	0.483	0.36807	P	0.057	0.26280	B	0.277144	0.15014	N	0.657496	1	0.08975	N	1.905	0.50856	L	3.06	0.08634	T	-3.9	0.72932	D	0.082	0.05799	-0.9653	0.38151	T	0.020	0.08407	T	10	0.0046663284	0.00098	T	0.009676	0.25290	T	0.037	0.09474	.	.	0.464442853059	0.46069	0.3098162164562044	0.30894	0.180679239249	0.20323	0.372172832489	0.21143	T	0.007498	0.06902	T	-0.595785	0.00155	T	-0.635364	0.10012	T	0.0464747853068908	0.04870	T	0.471053	0.13966	T	0.14436336	0.33139	0.13013615	0.31277	0.14436336	0.33139	0.13013615	0.31276	-4.452	0.30256	T	.	.	0.074	0.04889	B	.	.	0.977686	0.13551	10.08	0.85115919118601646	0.15695	0.12487	0.17299	N	AEFDBI	0.107876	0.21478	N	-0.696723788888787	0.16115	0.8181923	-0.81370396030618	0.14164	0.7386681	0.502040380988315	0.20951	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	5.56	-0.655	0.10865	-0.058000	0.11707	0.088000	0.14478	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.3734:0.4014:0.2252	6.490	0.21309	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2540.98	52	chr6	159234371	.	C	A	2540.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.987e+00;DP=1426;ExcessHet=0.0000;FS=0.511;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=0.194;SOR=0.647	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	20	0	1	0
chr6	159246969	159246969	G	C	exonic	FNDC1	.	nonsynonymous SNV	FNDC1:NM_032532:exon15:c.G4690C:p.D1564H,	.	.	.	.	.	.	.	.	.	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.979	D	0.003	N	1.000	D	1.935	M	3.72	T	-0.653	T	0.275	T	0.54	3.265	16.95	5.54	2.588	5.711	17.237	0.103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0018	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0.0004	0	0.0002	5.061e-05	1.875e-05	0	0.0003	0.0002	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.009	0.66756	D	0.999	0.77913	D	0.979	0.74454	D	0.002848	0.35836	N	0.234303	0.999957	0.54805	D	2.43	0.70455	M	2.92	0.09915	T	-3.39	0.66896	D	0.55	0.57604	-0.6531	0.62579	T	0.275	0.64629	T	9	0.5588635	0.64674	D	0.033427	0.54974	D	0.155	0.40530	0.211	0.12923	0.716368476681	0.71387	0.5440392449143501	0.54329	0.742978454595	0.63363	0.448153674603	0.31691	T	0.069527	0.33731	T	-0.0790741	0.39866	T	-0.351361	0.39050	T	0.992298901081085	0.82739	D	0.823318	0.48387	T	0.50443697	0.67354	0.484389	0.70152	0.50443697	0.67355	0.484389	0.70153	-9.52	0.70983	D	.	.	0.559	0.67191	A	.	.	6.143375	0.94659	34	0.99444621568533897	0.64971	0.96803	0.71023	D	AEFBI	0.833431	0.75164	D	0.664050852397009	0.77282	6.644672	0.620074757088017	0.76401	6.483862	0.97955389799973	0.30040	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.54	5.54	0.82907	5.922000	0.69759	11.627000	0.93669	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.590000	0.31140	0.0:0.0:1.0:0.0	17.237	0.86884	816	0.41767	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	429.76	74	chr6	159246969	.	G	C	429.76	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-2.628e+00;DP=1339;ExcessHet=0.6776;FS=353.850;InbreedingCoeff=-0.1265;MLEAC=4;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=1.12;ReadPosRankSum=1.07;SOR=8.955	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:72,0:72:0:.:.:0,0,1487	16	0	4	1
chr6	159246970	159246970	G	C	splicing	FNDC1	NM_032532:exon15:c.4690+1G>C	.	.	.	.	.	.	.	.	.	.	.	0.9999	0.932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.523	14.40	5.54	2.588	5.711	17.237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0036	0.0099	0.0038	0.0033	0.0043	0.0035	0.0035	0.0042	0.0041	0.0035	0.0001	0.0012	0.0009	0.0008	0.0018	0.0043	0.0031	0.0013	0	1.314e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244542	0.78088	D	0.113491	0.77803	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.933500	0.81364	27.5	0.99449484633040008	0.65223	0.96789	0.70947	D	AEFBI	.	.	.	1.01751420525002	0.96260	14.48223	0.835805092306312	0.92159	11.26917	0.97955389799973	0.30040	0.061011	0.01085	0	0.059962	0.00310	0	0.063197	0.01477	0	0.057018	0.00518	0	0.973979	0.76545	5.54	5.54	0.82907	5.922000	0.69759	11.627000	0.93669	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.523000	0.29544	0.0:0.0:1.0:0.0	17.237	0.86884	816	0.41767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	384.68	36	chr6	159246970	.	G	C	384.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.641e+00;DP=989;ExcessHet=0.3300;FS=258.507;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=1.45;ReadPosRankSum=0.816;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485	18	0	3	0
chr6	159249125	159249125	G	A	exonic	FNDC1	.	nonsynonymous SNV	FNDC1:NM_032532:exon16:c.G4777A:p.A1593T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.469	P	0.048	B	0.783	N	0.994	N	-0.895	N	4.11	T	-0.958	T	0.005	T	0.202	-0.102	3.500	-4.15	-1.039	-0.458	1.340	0.011	0.00351854793206	.	0.000599042	0.0002	0	0	0	0.0002	2.102e-05	0	0.0013	0.0001488	23	154602	rs575733474	4.664e-05	5.199e-05	2.318e-05	7.037e-05	0.0007	3.737e-05	3.42e-05	0.0005	0.0005	5.985e-05	0	3.846e-05	0	0	0.0003	3.603e-06	3.317e-05	0.0007	5.909e-05	5.905e-05	6.423e-05	5.37e-05	0.0010	3.075e-05	2.208e-05	0.0004	0.0003	9.624e-05	0	0	0	0	0	0	0	0	0.0010	1.0	0.00964	T	0.482	0.11829	T	0.469	0.36524	P	0.048	0.24975	B	0.782861	0.09457	N	0.908786	0.99433	0.23540	N	-1.39	0.00611	N	3.3	0.06368	T	0.41	0.03407	N	0.008	0.00068	-0.9579	0.39571	T	0.005	0.01833	T	9	0.0050886273	0.00110	T	0.003519	0.08000	T	0.036	0.09122	.	.	0.269111216191	0.26524	0.08026016403560496	0.07961	0.168615054089	0.19010	0.236982479692	0.02525	T	0.001277	0.00758	T	-0.621836	0.00107	T	-0.722349	0.04682	T	0.0294918302841827	0.01912	T	0.49515	0.15352	T	0.04359374	0.06821	0.047436085	0.06833	0.04359374	0.06821	0.047436085	0.06833	-3.06	0.10842	T	.	.	0.059	0.00847	B	.	.	-0.853380	0.01006	0.041	0.8071207421237574	0.13333	0.04010	0.09437	N	AEFDBIJ	0.046585	0.07753	N	-1.06227974976635	0.07348	0.3410722	-1.10215281212436	0.07659	0.3734241	0.999991480273577	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.57	-4.15	0.03617	-0.505000	0.06448	-0.652000	0.08023	-0.116000	0.14526	0.000000	0.06391	0.000000	0.08366	0.256000	0.23417	0.3064:0.1445:0.0992:0.4498	1.340	0.02022	816	0.41767	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1405.98	33	chr6	159249125	.	G	A	1405.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.693;DP=826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=-2.400e-01;SOR=0.682	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr6	159251326	159251326	A	G	exonic	FNDC1	.	nonsynonymous SNV	FNDC1:NM_032532:exon17:c.A4859G:p.K1620R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.996	D	0.955	D	0.000	D	1.000	D	2.44	M	2.41	T	-0.882	T	0.144	T	0.474	4.836	27.5	5.53	2.112	9.045	15.666	0.185	0.0250941263175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.007	0.69154	D	0.996	0.68779	D	0.955	0.69585	D	0.000006	0.62929	D	0.105732	0.999952	0.52396	D	2.505	0.72935	M	1.47	0.31987	T	-2.67	0.57110	D	0.489	0.52297	-0.8822	0.49585	T	0.144	0.46587	T	9	0.42198247	0.56925	T	0.025094	0.48081	D	0.185	0.45933	0.361	0.36548	0.660628823993	0.65778	0.7608670193722374	0.76034	0.615547688824	0.56032	0.576504349709	0.49593	T	0.209909	0.57025	T	-0.031099	0.47257	T	-0.282448	0.46553	T	0.99550724029541	0.87546	D	0.923908	0.72182	D	0.61229247	0.73351	0.6689565	0.80581	0.61229247	0.73352	0.6689565	0.80582	-6.806	0.52603	T	.	.	0.252	0.48624	B	.	.	4.388254	0.67704	25.1	0.99920197829193302	0.98721	0.99239	0.93282	D	AEFBI	0.944651	0.95199	D	0.781772260350096	0.84953	8.434033	0.761932950262341	0.87046	9.088728	0.99999999999896	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.53	5.53	0.82530	9.033000	0.93229	11.082000	0.85768	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	1.0:0.0:0.0:0.0	15.666	0.76986	822	0.40702	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2242.98	37	chr6	159251326	.	A	G	2242.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.466e+00;DP=872;ExcessHet=0.0000;FS=3.594;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.27;ReadPosRankSum=-4.120e-01;SOR=0.480	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr6	159251341	159251341	C	T	exonic	FNDC1	.	nonsynonymous SNV	FNDC1:NM_032532:exon17:c.C4874T:p.P1625L,	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.965	D	0.000	D	1.000	D	2.44	M	1.34	T	-0.523	T	0.304	T	0.566	4.502	24.2	5.53	2.613	7.575	19.467	0.399	0.118402628517	.	.	8.411e-06	0	0	0	0	1.514e-05	0	0	6.5e-06	1	154602	rs749321503	4.105e-05	4.104e-05	4.084e-05	4.126e-05	0.0010	3.245e-05	2.92e-05	0.0005	0.0003	5.974e-05	0	0	2.519e-05	0	0.0010	3.328e-05	0.0001	6.958e-05	2.628e-05	2.627e-05	2.569e-05	2.69e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.965	0.71173	D	0.000202	0.47681	D	0.186553	1	0.81001	D	2.505	0.72935	M	0.35	0.58029	T	-9.11	0.98187	D	0.72	0.72209	-0.5232	0.67796	T	0.304	0.67510	T	9	0.8181764	0.81040	D	0.118403	0.79843	D	0.399	0.71321	.	.	0.826353836488	0.82470	0.6793642122708015	0.67875	0.685193011748	0.60274	0.717677414417	0.69708	T	0.162596	0.50732	T	-0.0706082	0.41229	T	-0.170072	0.57437	T	0.996981084346771	0.90511	D	0.936706	0.76258	D	0.74884766	0.80801	0.5904003	0.76234	0.74884766	0.80803	0.5904003	0.76235	-10.042	0.74163	D	.	.	0.808	0.77674	P	.	.	4.487451	0.70070	25.5	0.99888239048802951	0.96281	0.96630	0.70109	D	AEFBI	0.801343	0.72708	D	0.611559759989104	0.73903	6.043001	0.52469583948648	0.69655	5.391638	1.0	0.98316	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.53	5.53	0.82530	7.661000	0.82776	7.583000	0.61020	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.572000	0.30699	0.0:1.0:0.0:0.0	19.467	0.94938	822	0.40702	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2357.98	37	chr6	159251341	.	C	T	2357.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=888;ExcessHet=0.0000;FS=1.848;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=0.593;SOR=0.548	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr6	159739015	159739015	A	G	exonic	WTAP	.	nonsynonymous SNV	WTAP:NM_001270531:exon3:c.A56G:p.K19R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.01	B	0.009	B	0.000	D	1.000	D	1.355	L	0.85	T	-1.072	T	0.058	T	0.426	3.613	18.39	5.28	2.111	8.227	14.067	0.133	0.0109381703518	7.7e-05	0.000199681	8.265e-05	0	0	0.0002	0	7.516e-05	0	0.0002	0.00011	17	154602	rs148080007	0.0002	0.0002	0.0002	0.0002	0.0014	0.0001	0.0001	0.0011	0.0010	0	4.492e-05	0	0.0014	0	0.0002	0.0001	0.0001	0.0002	9.851e-05	9.843e-05	0.0001	8.058e-05	0.0012	6.004e-05	4.877e-05	0.0005	0.0003	4.813e-05	0	0	0	0.0012	0	0	0.0001	0	0	0.122	0.27663	T	0.447	0.21011	T	0.01	0.15535	B	0.009	0.14300	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	0.74	0.50459	T	-0.93	0.24898	N	0.423	0.46274	-1.0723	0.08915	T	0.058	0.24428	T	10	0.09220198	0.16217	T	0.010938	0.28041	T	0.133	0.36157	.	.	0.313793572803	0.30980	0.3136324455266764	0.31276	1.05760609486	0.76358	0.716450512409	0.69529	T	0.171385	0.51949	T	-0.199289	0.20907	T	-0.298339	0.44899	T	0.131871254936676	0.15554	T	0.728327	0.34315	T	0.17593442	0.38478	0.15975225	0.37241	0.17593442	0.38478	0.15975225	0.37241	-4.419	0.32222	T	.	.	0.090	0.14979	B	.;.;.;.;.	.;.;.;.;.	3.419056	0.47462	22.5	0.99740745812546283	0.83482	0.99646	0.98304	D	AEFBI	0.917892	0.88617	D	0.0218037200109731	0.42846	2.589425	0.214016938413239	0.50625	3.252565	0.999999999849163	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.28	5.28	0.74118	7.946000	0.87231	11.026000	0.85008	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.067	0.64363	808	0.43318	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	972.98	33	chr6	159739015	.	A	G	972.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.053e+00;DP=770;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=3.25;SOR=0.733	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1241	20	0	1	0
chr6	159777362	159777362	G	A	exonic	ACAT2	.	nonsynonymous SNV	ACAT2:NM_001303253:exon7:c.G905A:p.G302E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.996	D	0.833	P	0.000	D	1.000	D	3.4	M	-0.33	T	0.187	D	0.465	T	0.708	4.510	24.2	5.02	1.447	5.303	16.032	0.499	0.0834895799202	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1363532082	2.736e-06	2.736e-06	5.445e-06	0	2.698e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.013	0.63109	D	0.993	0.65571	D	0.752	0.56092	P	0.000001	0.84330	D	0.094149	1	0.81001	D	3.045	0.86684	M	-0.33	0.68329	T	-6.16	0.90215	D	0.511	0.54234	0.187	0.85695	D	0.465	0.79323	T	10	0.7296349	0.74209	D	0.08349	0.74126	D	0.499	0.78288	.	.	0.898084378902	0.89706	0.8063237994901027	0.80587	0.324793968335	0.34632	0.483395785093	0.36524	T	0.668193	0.90121	D	0.0502067	0.58371	T	0.00347016	0.70561	D	0.988602221012115	0.78915	D	0.980102	0.93255	D	0.91601473	0.92862	0.84792215	0.91365	0.91601473	0.92863	0.84792215	0.91365	-8.753	0.66093	D	.	.	0.219	0.44885	B	.	.	4.018641	0.59339	24.1	0.99766621172446335	0.85500	0.96037	0.67248	D	AEFDBHCI	0.916296	0.88230	D	0.643987401923978	0.75979	6.402887	0.560288476824584	0.72118	5.759426	0.999999999983493	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.91	5.02	0.66742	5.406000	0.66100	4.792000	0.44907	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8608:0.1392	16.032	0.80384	820	0.40914	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1527.98	34	chr6	159777362	.	G	A	1527.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.701;DP=1431;ExcessHet=0.0000;FS=0.635;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=-1.220e-01;SOR=0.700	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:117,0:117:99:.:.:0,120,1800	20	0	1	0
chr6	159778764	159778764	C	T	exonic	ACAT2	.	nonsynonymous SNV	ACAT2:NM_001303253:exon9:c.C1216T:p.R406C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.457	P	0.056	B	0.000	N	1.000	D	2.135	M	-1.81	D	-0.138	T	0.394	T	0.717	1.980	12.58	5.05	1.497	3.627	14.067	0.624	0.202809008355	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	1.29e-05	2	154602	rs749540167	1.437e-05	1.437e-05	1.225e-05	1.65e-05	2.519e-05	9.23e-06	7.84e-06	9.31e-06	7.61e-06	0	0	0	2.519e-05	0	0	1.529e-05	1.656e-05	2.319e-05	1.97e-05	1.969e-05	1.285e-05	2.685e-05	0.0002	5.24e-06	2.45e-06	.	.	2.406e-05	0	0	0	0.0002	0	0	1.47e-05	0	0	0.028	0.46129	D	0.066	0.44501	T	0.156	0.28196	B	0.035	0.22741	B	0.000168	0.48594	N	0.181085	0.999974	0.81001	D	3.12	0.87914	M	-1.81	0.83970	D	-5.57	0.86372	D	0.617	0.63289	-0.1375	0.79226	T	0.394	0.74692	T	10	0.79619753	0.79092	D	0.202809	0.86841	D	0.624	0.85459	.	.	0.906351920082	0.90541	0.8551953003976276	0.85482	0.177925372043	0.20020	0.457792580128	0.33008	T	0.826318	0.95807	D	0.201619	0.74043	D	0.067321	0.74731	D	0.973870396614075	0.70275	D	0.919408	0.70943	D	0.438637	0.63314	0.22879978	0.47932	0.438637	0.63315	0.22879978	0.47931	-6.074	0.46894	T	.	.	0.190	0.40889	B	.	.	3.888879	0.56570	23.8	0.99261288912183776	0.57222	0.93403	0.58124	D	AEFDBHCI	0.831448	0.74998	D	0.0612312749397872	0.44661	2.73607	0.148818773565674	0.47078	2.943614	0.99999996682804	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.93	5.05	0.67566	3.668000	0.54290	3.202000	0.36756	0.599000	0.40250	0.994000	0.38300	0.997000	0.33255	0.667000	0.33166	0.2746:0.7254:0.0:0.0	14.067	0.64361	820	0.40914	Thiolase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1379.98	38	chr6	159778764	.	C	T	1379.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.539;DP=910;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.95;ReadPosRankSum=-4.550e-01;SOR=0.720	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1386	20	0	1	0
chr6	159806021	159806021	A	C	exonic	PNLDC1	.	nonsynonymous SNV	PNLDC1:NM_001271862:exon7:c.A500C:p.E167A	.	.	432	1058	29	3	0	35	0.0162715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.328	B	0.183	B	0.052	N	1.000	N	1.545	L	.	.	-1.051	T	0.043	T	0.264	1.472	10.87	3.4	0.546	2.816	9.562	0.038	.	0.0050	0.00519169	0.0064	0.0012	0.0046	0	0.0054	0.0055	0.0110	0.0179	0.0061254	947	154602	rs146392472	0.0061	0.0061	0.0057	0.0065	0.0181	0.0060	0.0059	0.0173	0.0170	0.0009	0.0042	0.0051	2.519e-05	0.0054	0.0166	0.0056	0.0064	0.0181	0.0045	0.0045	0.0043	0.0047	0.0174	0.0043	0.0041	0.0144	0.0133	0.0011	0	0.0044	0.0037	0.0004	0.0029	0.0034	0.0063	0.0071	0.0174	0.025	0.47320	D	0.016	0.61642	D	0.243	0.33195	B	0.183	0.35961	B	0.052386	0.22898	N	0.442842	0.999982	0.18198	N	2.595	0.75868	M	.	.	.	-2.22	0.49846	N	0.416	0.49146	-1.0514	0.14009	T	0.043	0.18410	T	9	0.007142067	0.00162	T	.	.	.	0.038	0.09825	.	.	0.276482976112	0.27267	0.4509988585740375	0.45017	0.36332536221	0.37963	0.265277177095	0.05535	T	0.208192	0.56805	T	-0.412569	0.01912	T	-0.351778	0.39000	T	0.0187307143406989	0.00586	T	0.854015	0.53996	D	0.14637151	0.33511	0.14839086	0.35078	0.14637151	0.33511	0.14839086	0.35077	-6.699	0.51803	T	.	.	0.133	0.28778	B	.;.	.;.	2.142681	0.27288	17.41	0.98660465239849338	0.44317	0.81536	0.40920	D	AEFDBHCI	0.166051	0.29260	N	-0.339153688440127	0.27672	1.52017	-0.299622933287084	0.28111	1.564821	0.999996483160134	0.74766	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	5.76	3.4	0.38031	2.895000	0.48347	7.857000	0.71250	0.751000	0.87719	0.934000	0.32416	1.000000	0.68203	0.380000	0.26335	0.8948:0.0:0.1052:0.0	9.562	0.38538	900	0.24599	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1716.98	36	chr6	159806021	.	A	C	1716.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.384;DP=946;ExcessHet=0.0000;FS=0.575;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.16;ReadPosRankSum=1.60;SOR=0.613	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,111,1665	20	0	1	0
chr6	159906971	159906971	G	A	exonic	MAS1	.	nonsynonymous SNV	MAS1:NM_001366704:exon2:c.G16A:p.V6M	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.007	B	0.004	B	0.172	N	1.000	N	0	N	2.06	T	-0.972	T	0.009	T	0.048	1.471	10.86	-3.4	-0.529	-0.265	7.261	0.001	0.0111567256796	7.7e-05	0.000199681	0.0002	0.0004	0.0003	0.0001	0	7.599e-05	0	0.0003	0.0001294	20	154602	rs369549897	6.467e-05	6.567e-05	4.642e-05	8.32e-05	0.0005	5.392e-05	5.004e-05	0.0003	0.0003	0.0003	0.0004	0	0	0	0.0005	1.81e-05	3.333e-05	0.0005	0.0002	0.0002	0.0001	0.0003	0.0006	0.0002	0.0001	0.0004	0.0004	0.0006	0	0.0003	0	0	0	0	2.94e-05	0.0005	0.0004	0.213	0.19430	T	0.231	0.25061	T	0.007	0.14184	B	0.004	0.10090	B	0.171620	0.03115	N	1.881840	1	0.08975	N	0.345	0.11182	N	2.06	0.20523	T	-0.08	0.08187	N	0.024	0.00445	-0.9721	0.36755	T	0.009	0.03140	T	10	0.012536883	0.00269	T	0.011157	0.28497	T	0.001	0.00016	.	.	0.119812018005	0.11559	0.27812592636027456	0.27725	0.103091269234	0.11663	0.284965395927	0.08194	T	0.071031	0.34108	T	-0.623614	0.00104	T	-0.790824	0.02142	T	0.00527499010786414	0.00057	T	0.561544	0.19673	T	0.025413515	0.01476	0.034460768	0.02516	0.025413515	0.01476	0.034460768	0.02516	-4.633	0.32583	T	.	.	0.130	0.27762	B	.	.	0.053799	0.04664	1.316	0.91618774123718738	0.20903	0.04719	0.10413	N	AEFBCI	0.044292	0.07108	N	-1.33518752831486	0.03281	0.1462925	-1.35700809667662	0.03723	0.174296	6.44487907773474E-4	0.07527	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.45	-3.4	0.04549	-0.008000	0.12724	-1.363000	0.05617	-0.107000	0.15377	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.3753:0.337:0.2877:0.0	7.261	0.25379	927	0.17636	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1282.98	38	chr6	159906971	.	G	A	1282.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.25;DP=825;ExcessHet=0.0000;FS=4.739;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=0.881;SOR=1.163	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1202	20	0	1	0
chr6	160024666	160024666	C	T	exonic	IGF2R	.	nonsynonymous SNV	IGF2R:NM_000876:exon5:c.C608T:p.P203L,	Hepatocellular carcinoma, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.028	B	0.005	B	0.062	N	1.000	N	2.665	M	2.55	T	-1.035	T	0.020	T	0.058	1.867	12.20	3.48	1.301	0.576	10.187	0.078	.	0.0045	0.00379393	0.0013	0.0137	8.637e-05	0	0	0.0001	0	0.0003	0.0012484	193	154602	rs8191746	0.0005	0.0005	0.0005	0.0004	0.0138	0.0005	0.0004	0.0128	0.0124	0.0138	0.0008	0	0.0002	0	0.0016	9.353e-05	0.0009	0.0003	0.0039	0.0039	0.0039	0.0038	0.0129	0.0036	0.0035	0.0120	0.0116	0.0129	0	0.0020	0	0	0	0	0.0002	0.0019	0.0002	0.06	0.37326	T	0.051	0.47828	T	0.028	0.19712	B	0.005	0.11217	B	0.061708	0.22151	N	0.531000	0.99998	0.18612	N	.	.	.	2.55	0.13795	T	-2.93	0.61284	D	0.174	0.18649	-1.0349	0.18888	T	0.020	0.08313	T	10	0.0041704774	0.00083	T	.	.	.	0.078	0.22779	.	.	0.223474106383	0.21959	0.4379573584324575	0.43712	0.0938416663665	0.10600	0.39024040103	0.23704	T	0.22555	0.59031	T	-0.665289	0.00058	T	-0.716741	0.04954	T	0.0140093111549213	0.00270	T	0.692631	0.30204	T	0.11910791	0.28051	0.0976164	0.23242	0.12349674	0.28997	0.08817229	0.20542	-5.605	0.42838	T	.	.	0.096	0.15206	B	.;.	.;.	2.323299	0.29754	18.22	0.92379950965446378	0.21787	0.16151	0.19254	N	AEFBI	0.092705	0.18765	N	-0.535355912324146	0.20945	1.107943	-0.559190741693621	0.20561	1.108381	0.996783199652728	0.35006	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.47	3.48	0.38946	1.202000	0.31878	1.390000	0.26108	0.599000	0.40250	0.087000	0.22510	0.027000	0.21108	0.476000	0.28476	0.1444:0.773:0.0:0.0826	10.187	0.42180	794	0.45591	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	311.98	83	chr6	160024666	.	C	T	311.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=782;ExcessHet=0.0000;FS=8.932;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=3.76;ReadPosRankSum=-2.930e-01;SOR=1.061	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1406	20	0	1	0
chr6	160027227	160027227	C	T	exonic	IGF2R	.	nonsynonymous SNV	IGF2R:NM_000876:exon6:c.C689T:p.P230L,	Hepatocellular carcinoma, somatic	.	413	1107	2	0	0	2	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.001	B	0.001	B	0.356	N	1.000	N	0.64	N	2.47	T	-0.957	T	0.007	T	0.149	1.262	10.12	-2.89	-0.479	-1.246	0.904	0.009	0.00270619618243	7.7e-05	.	2.497e-05	0	0	0	0	4.545e-05	0	0	1.94e-05	3	154602	rs367819391	3.899e-05	3.899e-05	2.722e-05	5.088e-05	0.0002	3.047e-05	2.783e-05	3.765e-05	2.662e-05	0	0	0	0	0	0.0002	3.777e-05	0.0001	8.115e-05	6.568e-06	6.566e-06	0	1.344e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.294	0.14793	T	0.288	0.21144	T	0.001	0.07471	B	0.001	0.04355	B	0.355562	0.04272	N	1.341150	0.999994	0.08975	N	.	.	.	2.47	0.14783	T	-2.66	0.56945	D	0.098	0.07949	-0.9572	0.39699	T	0.007	0.02558	T	10	0.07664204	0.11999	T	0.002706	0.05550	T	0.009	0.00846	.	.	0.200294437569	0.19612	0.29073885813832195	0.28986	0.0941277543069	0.10624	0.234187468886	0.02292	T	0.139657	0.47380	T	-0.463566	0.00934	T	-0.711975	0.05194	T	0.0256856736550977	0.01363	T	0.432757	0.11777	T	0.13939586	0.32201	0.120060965	0.28977	0.13939586	0.32201	0.120060965	0.28976	-5.329	0.40229	T	.	.	0.065	0.01960	B	.;.	.;.	0.222558	0.06049	2.490	0.61167925717414606	0.06642	0.06199	0.12184	N	AEFDBI	0.045898	0.07560	N	-1.29800139599903	0.03700	0.1657461	-1.3344245118023	0.03992	0.1874142	0.9999695066381	0.48965	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.22	-2.89	0.05326	-1.126000	0.03365	-1.397000	0.05536	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.052000	0.15357	0.3086:0.2984:0.2028:0.1902	0.904	0.01200	794	0.45591	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1117.98	37	chr6	160027227	.	C	T	1117.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.119e+00;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=2.05;SOR=0.765	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1067	20	0	1	0
chr6	160047864	160047864	G	A	exonic	IGF2R	.	nonsynonymous SNV	IGF2R:NM_000876:exon17:c.G2302A:p.V768I,	Hepatocellular carcinoma, somatic	.	.	.	.	.	.	.	.	.	.	2470107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.37	T	0.037	B	0.008	B	0.113	N	0.989	N	1.05	L	4.44	T	-0.927	T	0.002	T	0.041	1.239	10.03	-0.688	-0.044	-0.017	7.618	0.036	0.00365862989263	.	.	1.648e-05	0	8.639e-05	0	0	0	0	6.056e-05	1.29e-05	2	154602	rs780198115	1.3e-05	1.3e-05	1.225e-05	1.375e-05	5.797e-05	8.31e-06	6.7e-06	2.194e-05	1.43e-05	0	0	0	2.519e-05	0	0	1.079e-05	1.656e-05	5.797e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	7.236e-05	5.24e-06	2.45e-06	1.919e-05	1.032e-05	7.236e-05	0	0	0	0	0	0	0	0	0	0.247	0.17296	T	0.243	0.24193	T	0.037	0.20876	B	0.008	0.13708	B	0.112744	0.19344	N	0.561024	0.98924	0.24319	N	.	.	.	4.44	0.02139	T	-0.21	0.10308	N	0.137	0.13484	-0.9267	0.44616	T	0.002	0.00615	T	10	0.037943453	0.02181	T	0.003659	0.08433	T	0.036	0.09122	0.433	0.48336	0.0934897674506	0.08844	0.06585162707388681	0.06524	0.0899398325063	0.10148	0.24820266664	0.03581	T	0.071355	0.34187	T	-0.531677	0.00375	T	-0.798839	0.01931	T	0.486311495304108	0.32129	T	0.790821	0.43180	T	0.027304709	0.01904	0.04251864	0.05083	0.027304709	0.01904	0.04251864	0.05082	-5.51	0.41961	T	.	.	0.083	0.08997	B	.;.	.;.	1.148171	0.15359	11.79	0.97235482611795498	0.32969	0.26620	0.23045	N	AEFDBI	0.078758	0.15897	N	-0.773897723705958	0.13992	0.6934912	-0.737370765901367	0.16034	0.8462528	0.938569158911436	0.27348	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.14	-0.688	0.10748	-0.027000	0.12319	0.098000	0.14610	-0.108000	0.15293	0.003000	0.16062	0.000000	0.08366	0.389000	0.26536	0.3988:0.1148:0.4864:0.0	7.618	0.27336	784	0.47045	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1948.98	34	chr6	160047864	.	G	A	1948.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.726;DP=867;ExcessHet=0.0000;FS=4.531;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=0.030;SOR=1.041	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1396	20	0	1	0
chr6	160048478	160048478	C	G	exonic	IGF2R	.	nonsynonymous SNV	IGF2R:NM_000876:exon18:c.C2449G:p.L817V,	Hepatocellular carcinoma, somatic	.	427	993	99	3	0	105	0.0502152	.	.	699422	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.26	T	0.981	D	0.832	P	0.000	D	1.000	D	2.275	M	3.84	T	-1.029	T	0.017	T	0.585	3.005	16.02	4.31	2.472	1.403	10.337	0.125	.	0.0062	0.0071885	0.0094	0.0009	0.0062	0	0.0056	0.0092	0.0154	0.0237	0.0086739	1341	154602	rs8191808	0.0072	0.0072	0.0064	0.0080	0.0397	0.0071	0.0071	0.0355	0.0339	0.0009	0.0059	0.0307	5.038e-05	0.0058	0.0397	0.0056	0.0098	0.0237	0.0059	0.0059	0.0059	0.0059	0.0215	0.0056	0.0055	0.0182	0.0169	0.0010	0.0066	0.0050	0.0288	0.0006	0.0061	0.0442	0.0069	0.0085	0.0215	0.088	0.32296	T	0.012	0.63918	D	0.981	0.59675	D	0.832	0.59730	P	0.000462	0.44119	D	0.151190	0.999783	0.49076	D	.	.	.	3.84	0.03675	T	-1.35	0.33598	N	0.529	0.55799	-1.0289	0.20811	T	0.017	0.06998	T	10	0.005435288	0.00120	T	.	.	.	0.125	0.34456	.	.	0.391520894214	0.38767	0.6234013171663959	0.62273	0.452284579307	0.44955	0.323376655579	0.13932	T	0.135816	0.46784	T	-0.458906	0.00998	T	-0.413039	0.31874	T	0.0227990608119091	0.01000	T	0.867113	0.56785	D	0.13013394	0.30373	0.119077824	0.28742	0.1522377	0.34567	0.119077824	0.28741	-6.3	0.48722	T	.	.	0.127	0.27069	B	.;.	.;.	3.252730	0.44454	21.9	0.99696098389600929	0.80316	0.90954	0.52577	D	AEFBI	0.374056	0.45910	N	0.461876900785595	0.64879	4.752795	0.419132398140247	0.62757	4.496646	0.998863673749533	0.37845	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.3	4.31	0.50718	1.419000	0.34400	3.200000	0.36746	0.599000	0.40250	0.796000	0.29669	0.998000	0.33993	0.927000	0.46353	0.0:0.8324:0.0:0.1676	10.337	0.43037	784	0.47045	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1578.98	33	chr6	160048478	.	C	G	1578.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.542;DP=821;ExcessHet=0.0000;FS=5.206;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.61;ReadPosRankSum=0.048;SOR=0.748	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1265	20	0	1	0
chr6	160050623	160050623	A	C	exonic	IGF2R	.	nonsynonymous SNV	IGF2R:NM_000876:exon19:c.A2665C:p.I889L,	Hepatocellular carcinoma, somatic	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.025	B	0.028	B	0.000	N	1.000	D	2.56	M	3.14	T	-1.091	T	0.014	T	0.307	2.313	13.69	2.76	0.286	4.353	6.438	0.122	0.0273268917151	7.7e-05	.	8.62e-06	0	0	0	0	1.557e-05	0	0	6.5e-06	1	154602	rs374454730	1.096e-05	1.094e-05	1.226e-05	9.644e-06	5.98e-05	6.49e-06	5.25e-06	9.9e-06	5.03e-06	5.98e-05	0	0	0	0	0	1.171e-05	0	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.012	0.63918	D	0.025	0.19245	B	0.028	0.21332	B	0.000001	0.84330	N	0.053822	0.999976	0.53665	D	.	.	.	3.14	0.07920	T	-1.43	0.35194	N	0.348	0.38950	-1.0915	0.05286	T	0.014	0.05417	T	10	0.1880343	0.34341	T	0.027327	0.50151	D	0.122	0.33800	.	.	0.307950594193	0.30395	0.8812800909152678	0.88096	0.273496427481	0.29848	0.641915559769	0.58837	T	0.272089	0.64445	T	-0.249198	0.14198	T	-0.495102	0.22857	T	0.942234456539154	0.61623	D	0.727127	0.34152	T	0.19095352	0.40702	0.14482667	0.34371	0.19095352	0.40702	0.14482667	0.34370	-8.227	0.62606	D	.	.	0.143	0.31482	B	.;.	.;.	2.775439	0.36443	20.2	0.9814043898022724	0.38597	0.95692	0.65751	D	AEFBI	0.537539	0.55530	D	-0.155173270734095	0.35016	2.005927	-0.0996168179908467	0.35407	2.048067	0.919169964228426	0.26594	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	2.76	0.31527	4.351000	0.59175	5.052000	0.47007	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.271000	0.23793	0.6183:0.3038:0.0779:0.0	6.438	0.21037	779	0.47767	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	758.98	34	chr6	160050623	.	A	C	758.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.65;DP=781;ExcessHet=0.0000;FS=8.502;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.49;ReadPosRankSum=-1.552e+00;SOR=1.671	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1192	20	0	1	0
chr6	160061927	160061927	C	T	exonic	IGF2R	.	nonsynonymous SNV	IGF2R:NM_000876:exon25:c.C3581T:p.S1194L,	Hepatocellular carcinoma, somatic	.	425	1092	5	0	0	5	0.00228415	0.3354	0.306	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.529	P	0.063	B	0.053	N	1.000	D	0.97	L	3.88	T	-0.778	T	0.003	T	0.248	2.117	13.04	4.61	1.411	0.424	4.856	0.068	.	0.0004	0.00279553	0.0016	0	0	0.0186	0.0006	0.0003	0	0.0006	0.0014489	224	154602	rs117358940	0.0009	0.0009	0.0009	0.0009	0.0244	0.0009	0.0009	0.0231	0.0226	0	2.236e-05	0	0.0244	0.0006	0.0005	0.0002	0.0008	0.0005	0.0008	0.0008	0.0006	0.0009	0.0182	0.0007	0.0006	0.0152	0.0141	2.408e-05	0	0	0	0.0182	9.427e-05	0	0.0003	0.0010	0.0002	0.332	0.13045	T	0.26	0.23029	T	0.529	0.37682	P	0.063	0.27082	B	0.053465	0.22806	N	0.476779	1	0.81001	D	.	.	.	3.88	0.03570	T	-1.31	0.32791	N	0.096	0.07673	-0.7783	0.56398	T	0.003	0.00994	T	10	0.0069360137	0.00158	T	.	.	.	0.068	0.19811	.	.	0.278043722374	0.27408	0.3095039995628523	0.30863	0.374604463847	0.38924	0.358945429325	0.19232	T	0.081147	0.36528	T	-0.565246	0.00236	T	-0.569776	0.15470	T	0.0362030363341509	0.03016	T	0.769823	0.39947	T	0.1089114	0.25749	0.06633822	0.13575	0.116627194	0.27504	0.09544075	0.22636	-5.502	0.41886	T	.	.	0.080	0.07889	B	.;.	.;.	2.651063	0.34516	19.65	0.99657765565020362	0.77757	0.34461	0.25073	N	AEFBI	0.077738	0.15668	N	-0.270123582060095	0.30308	1.68869	-0.188001502120474	0.31976	1.814743	0.567399276580451	0.21464	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.5	4.61	0.56724	0.629000	0.24229	1.017000	0.23376	0.599000	0.40250	0.085000	0.22462	0.481000	0.25102	0.916000	0.45140	0.1562:0.6133:0.1505:0.08	4.856	0.12922	759	0.50631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1079.98	33	chr6	160061927	.	C	T	1079.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.00;DP=827;ExcessHet=0.0000;FS=0.749;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.15;ReadPosRankSum=1.24;SOR=0.569	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1485	20	0	1	0
chr6	160062604	160062604	G	A	exonic	IGF2R	.	nonsynonymous SNV	IGF2R:NM_000876:exon26:c.G3655A:p.V1219I,	Hepatocellular carcinoma, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.009	B	0.011	B	0.005	N	1.000	N	1.67	L	2.93	T	-0.935	T	0.009	T	0.073	0.731	7.886	-0.493	-0.069	0.048	9.391	0.035	0.0120311392572	7.7e-05	.	4.123e-05	0	8.657e-05	0	0	5.999e-05	0	0	4.53e-05	7	154602	rs368061810	6.436e-05	6.499e-05	7.63e-05	5.229e-05	0.0002	5.366e-05	4.98e-05	7.286e-05	5.163e-05	0.0001	0.0002	0.0004	0	1.872e-05	0	5.311e-05	9.941e-05	5.8e-05	2.629e-05	2.627e-05	5.14e-05	0	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0.0005	0	0.472	0.08433	T	0.294	0.20745	T	0.009	0.15093	B	0.011	0.15521	B	0.005474	0.32770	N	0.326816	1	0.08975	N	.	.	.	2.93	0.09822	T	-0.01	0.07155	N	0.101	0.08366	-0.9354	0.43333	T	0.009	0.03271	T	10	0.026019573	0.00779	T	0.012031	0.30231	T	0.035	0.08770	.	.	0.134007934775	0.12933	0.0895377099535357	0.08886	0.330999952063	0.35175	0.270586490631	0.06218	T	0.074881	0.35045	T	-0.527776	0.00396	T	-0.770189	0.02762	T	0.02886469848454	0.01817	T	0.664534	0.27348	T	0.034022618	0.03737	0.04775764	0.06948	0.034022618	0.03737	0.04775764	0.06947	-4.024	0.24162	T	.	.	0.076	0.06114	B	.;.	.;.	0.280530	0.06573	3.064	0.74876671377513093	0.10860	0.06365	0.12366	N	AEFBI	0.029715	0.02856	N	-1.27318083929945	0.04001	0.1798176	-1.29247602802746	0.04531	0.2139589	0.0727534177804796	0.15611	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.09	-0.493	0.11437	0.034000	0.13663	1.925000	0.29735	-2.683000	0.00214	0.003000	0.16062	0.974000	0.29927	0.010000	0.09038	0.233:0.0:0.6664:0.1005	9.391	0.37535	759	0.50631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1856.98	34	chr6	160062604	.	G	A	1856.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.240e-01;DP=872;ExcessHet=0.0000;FS=1.978;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.61;ReadPosRankSum=0.188;SOR=0.904	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1246	20	0	1	0
chr6	160068316	160068316	A	T	exonic	IGF2R	.	nonsynonymous SNV	IGF2R:NM_000876:exon30:c.A4183T:p.T1395S,	Hepatocellular carcinoma, somatic	.	407	1114	1	0	0	1	0.000448632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.036	B	0.015	B	0.052	N	1.000	N	2.135	M	4.34	T	-0.884	T	0.003	T	0.074	-0.029	3.867	3.78	0.749	1.230	4.208	0.054	0.0154438018459	0.0015	0.000399361	0.0011	0.0005	0.0004	0	0.0002	0.0016	0	0.0012	0.0010931	169	154602	rs2230048	0.0019	0.0019	0.0020	0.0018	0.0023	0.0018	0.0018	0.0022	0.0022	0.0004	0.0005	0.0001	0	0.0002	0.0005	0.0023	0.0016	0.0012	0.0010	0.0010	0.0011	0.0009	0.0019	0.0009	0.0008	0.0016	0.0015	0.0003	0	0.0005	0	0.0004	0	0	0.0019	0.0019	0.0006	0.295	0.14743	T	0.683	0.06052	T	0.036	0.20732	B	0.015	0.17295	B	0.051805	0.22949	N	0.465340	1	0.08975	N	.	.	.	4.34	0.02341	T	-0.63	0.18459	N	0.258	0.29197	-0.8841	0.49431	T	0.003	0.01092	T	10	0.00763008	0.00173	T	0.015444	0.36172	T	0.054	0.15330	0.142	0.04556	0.410380932278	0.40655	0.2455390042104387	0.24467	0.417087851708	0.42336	0.563438653946	0.47752	T	0.069252	0.33663	T	-0.643825	0.00079	T	-0.700637	0.05791	T	0.00228521970204519	0.00024	T	0.568943	0.20238	T	0.16621938	0.36943	0.061096128	0.11741	0.21551643	0.43986	0.08164613	0.18570	-2.748	0.07715	T	.	.	0.112	0.22061	B	.;.	.;.	1.772625	0.22541	15.66	0.71206995573606802	0.09551	0.30231	0.24029	N	AEFBCI	0.098228	0.19798	N	-0.683901486295097	0.16481	0.8400294	-0.688879037421936	0.17238	0.9156992	0.99768926450585	0.35903	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.94	3.78	0.42629	1.054000	0.30064	6.009000	0.52614	0.736000	0.85976	0.094000	0.22667	1.000000	0.68203	0.551000	0.30197	0.6726:0.0:0.1761:0.1513	4.208	0.09956	716	0.55970	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1856.98	43	chr6	160068316	.	A	T	1856.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.86;DP=960;ExcessHet=0.0000;FS=1.213;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=1.42;SOR=0.585	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr6	160078349	160078349	C	T	exonic	IGF2R	.	nonsynonymous SNV	IGF2R:NM_000876:exon37:c.C5465T:p.T1822M,	Hepatocellular carcinoma, somatic	.	.	.	.	.	.	.	.	.	.	721856	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.1	T	0.932	P	0.543	P	0.839	N	1.000	N	0.895	L	4.41	T	-1.018	T	0.003	T	0.057	1.849	12.14	-6.57	-1.289	0.081	10.833	0.145	.	0.0107	0.00998403	0.0027	0.0293	0.0017	0	0	6.002e-05	0.0033	0	0.0026584	411	154602	rs115412888	0.0008	0.0008	0.0009	0.0007	0.0266	0.0008	0.0008	0.0252	0.0246	0.0266	0.0023	0	2.519e-05	0	0.0014	6.026e-05	0.0020	5.797e-05	0.0081	0.0081	0.0082	0.0079	0.0277	0.0077	0.0075	0.0264	0.0259	0.0277	0	0.0036	0	0	0	0.0034	0.0001	0.0047	0.0002	0.078	0.33923	T	0.079	0.42086	T	0.932	0.51990	P	0.543	0.48966	P	0.838736	0.06986	N	1.073180	1	0.08975	N	.	.	.	4.41	0.02196	T	-1.34	0.33401	N	0.309	0.34874	-1.0182	0.24301	T	0.003	0.00994	T	10	0.0033277571	0.00057	T	.	.	.	0.145	0.38592	.	.	0.147330786459	0.14319	0.501255422585813	0.50047	0.863917638796	0.69099	0.291382670403	0.09123	T	0.10534	0.41572	T	-0.705315	0.00034	T	-0.762228	0.03033	T	0.0505044186865394	0.05588	T	0.873813	0.58316	D	0.037639637	0.04862	0.08313742	0.19028	0.05462563	0.10506	0.07414492	0.16188	-5.861	0.45102	T	.	.	0.1	0.17146	B	.;.	.;.	1.324783	0.17293	13.08	0.99242810388189862	0.56597	0.25105	0.22598	N	AEFDBCI	0.113474	0.22388	N	-0.927476513771125	0.10203	0.4864511	-1.1371234418207	0.07001	0.3389764	0.985467038318961	0.30892	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.51	-6.57	0.01674	0.175000	0.16577	-0.640000	0.08082	-0.785000	0.03297	0.005000	0.17040	0.000000	0.08366	0.086000	0.17578	0.147:0.363:0.49:0.0	10.833	0.45873	607	0.67291	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1057.98	36	chr6	160078349	.	C	T	1057.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.39;DP=794;ExcessHet=0.0000;FS=6.456;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.27;ReadPosRankSum=-1.582e+00;SOR=1.358	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1145	20	0	1	0
chr6	160089117	160089117	G	A	exonic	IGF2R	.	nonsynonymous SNV	IGF2R:NM_000876:exon43:c.G6331A:p.D2111N,	Hepatocellular carcinoma, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.247	B	0.116	B	0.006	N	0.986	N	0.86	L	1.41	T	-0.995	T	0.018	T	0.054	1.870	12.21	3.12	1.243	3.024	8.074	0.059	0.00870898985313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.84e-07	1.362e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392	0.10766	T	0.628	0.07244	T	0.247	0.31125	B	0.116	0.31939	B	0.005943	0.32383	N	0.374584	0.986407	0.24620	N	.	.	.	1.41	0.33412	T	-0.56	0.17003	N	0.182	0.19728	-0.9945	0.31432	T	0.018	0.07329	T	10	0.14094767	0.26786	T	0.008709	0.23001	T	0.059	0.16972	0.485	0.56780	0.443848435703	0.44006	0.4373374690871261	0.43650	0.42472068864	0.42894	0.438783824444	0.30411	T	0.068233	0.33405	T	-0.292239	0.09411	T	-0.657557	0.08432	T	0.925696492195129	0.58756	D	0.734827	0.35112	T	0.051410485	0.09436	0.033761263	0.02324	0.051410485	0.09436	0.033761263	0.02324	-4.731	0.33777	T	.	.	0.089	0.12037	B	.;.	.;.	3.832123	0.55402	23.6	0.9929326377735157	0.58362	0.96532	0.69610	D	AEFDBIJ	0.251582	0.37142	N	-0.263954863596965	0.30550	1.704517	-0.128397708440206	0.34251	1.968077	0.999996216607363	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.03	3.12	0.34986	2.731000	0.47015	3.820000	0.39948	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.979000	0.57723	0.0809:0.0:0.7629:0.1562	8.074	0.29867	599	0.68140	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	456.98	33	chr6	160089117	.	G	A	456.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.99;DP=742;ExcessHet=0.0000;FS=1.182;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.93;ReadPosRankSum=-3.680e-01;SOR=0.914	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr6	160122048	160122048	G	A	exonic	SLC22A1	.	nonsynonymous SNV	SLC22A1:NM_003057:exon1:c.G113A:p.G38D	.	.	406	1085	27	4	0	35	0.015873	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.545	H	-0.69	T	0.567	D	0.679	D	0.985	4.373	23.1	5.5	2.579	9.105	19.396	0.892	.	0.0015	0.00299521	0.0035	0.0005	0.0036	0	0	0.0051	0.0044	0.0019	0.0033376	516	154602	rs35888596	0.0027	0.0027	0.0025	0.0028	0.0449	0.0026	0.0026	0.0404	0.0387	0.0013	0.0043	0.0349	2.519e-05	5.645e-05	0.0449	0.0018	0.0058	0.0022	0.0028	0.0028	0.0029	0.0027	0.0051	0.0026	0.0025	0.0042	0.0039	0.0006	0.0011	0.0051	0.0375	0.0002	0	0.0646	0.0022	0.0090	0.0014	0.001	0.78490	D	0.004	0.74150	D	0.999	0.90584	D	0.98	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.595	0.93690	H	-0.69	0.74477	T	-5.81	0.89796	D	0.961	0.97426	0.567	0.91463	D	0.679	0.88881	D	10	0.014657378	0.00308	T	.	.	.	0.892	0.96910	.	.	0.795648209137	0.79374	0.8796919050526835	0.87937	0.688094427306	0.60415	0.666530907154	0.62343	T	0.439231	0.78459	T	0.0811231	0.62173	D	0.342913	0.90036	D	0.0767291887891701	0.09564	T	0.849815	0.53298	T	0.88076633	0.89730	0.90945464	0.95650	0.88076633	0.89731	0.90945464	0.95650	-8.143	0.63725	D	.	.	0.828	0.81301	P	.;.;.;.	.;.;.;.	3.791481	0.54572	23.5	0.99864207348351708	0.94276	0.98984	0.89542	D	AEFDBI	0.960016	0.98063	D	0.972892910519621	0.94849	13.09174	0.888011549237918	0.95029	13.248	0.999999999882552	0.74766	0.554377	0.28877	0	0.550933	0.16991	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.5	5.5	0.81386	9.228000	0.94403	9.547000	0.80972	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.670000	0.33251	0.0:0.0:1.0:0.0	19.396	0.94596	564	0.70960	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1547.98	34	chr6	160122048	.	G	A	1547.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.56;DP=826;ExcessHet=0.0000;FS=3.270;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.48;ReadPosRankSum=-2.180e-01;SOR=0.440	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1261	20	0	1	0
chr6	160122197	160122197	T	C	exonic	SLC22A1	.	nonsynonymous SNV	SLC22A1:NM_003057:exon1:c.T262C:p.C88R	.	.	414	1087	21	0	0	21	0.0095672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.92	H	-1.15	T	0.803	D	0.757	D	0.938	3.617	18.41	5.5	2.086	7.397	15.608	0.884	0.372545883564	0.0026	0.000599042	0.0022	0.0006	0.0006	0	0.0006	0.0034	0.0045	0.0011	0.0021345	330	154602	rs55918055	0.0027	0.0027	0.0027	0.0027	0.0056	0.0026	0.0026	0.0040	0.0035	0.0004	0.0009	0.0029	0	0.0009	0.0056	0.0031	0.0034	0.0013	0.0018	0.0018	0.0019	0.0018	0.0031	0.0016	0.0016	0.0028	0.0027	0.0003	0	0.0018	0.0014	0	0.0008	0.0102	0.0031	0.0019	0.0008	0.0	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.8	0.95404	H	-1.15	0.80730	T	-10.74	0.99367	D	0.921	0.92901	0.803	0.94454	D	0.757	0.91735	D	10	0.4071395	0.55971	T	0.372546	0.92781	D	0.884	0.96614	.	.	0.650362002609	0.64745	0.944871037429589	0.94469	0.81086799148	0.66720	0.79184615612	0.80724	T	0.72055	0.92099	D	0.140623	0.68384	D	0.426797	0.92954	D	0.20658478140831	0.20774	T	0.785321	0.42297	T	0.9801025	0.99118	0.9777043	0.99753	0.9801025	0.99118	0.9777043	0.99754	-8.773	0.66224	D	.	.	0.888	0.82022	P	.;.;.;.	.;.;.;.	4.285761	0.65326	24.8	0.99676539987292223	0.78977	0.99470	0.96426	D	AEFDBI	0.973551	0.99502	D	0.898960480952529	0.91708	11.02287	0.790086601173094	0.89097	9.836575	0.999999942161984	0.74766	0.421363	0.06395	0	0.550933	0.16991	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.5	5.5	0.81386	7.376000	0.78918	7.635000	0.62917	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.480000	0.28565	0.0:0.0:0.0:1.0	15.608	0.76443	560	0.71333	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2006.11	42	chr6	160122197	.	T	C	2006.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-6.170e-01;DP=916;ExcessHet=0.1072;FS=1.110;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.08;ReadPosRankSum=0.989;SOR=0.595	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1261	19	0	2	0
chr6	160595441	160595441	G	C	exonic	LPA	.	nonsynonymous SNV	LPA:NM_005577:exon21:c.C3382G:p.L1128V,	.	.	0	1504	16	2	0	20	0.00660502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.074	B	0.669	P	.	.	1.000	N	0.075	N	-0.19	T	-0.739	T	0.085	T	0.15	1.229	9.986	1.23	0.212	0.212	4.725	0.115	0.00993353122689	.	0.00119808	0.0008	0	8.639e-05	0	0	7.494e-05	0	0.0055	0.0006792	105	154602	rs199532848	0.0004	0.0004	0.0002	0.0006	0.0057	0.0004	0.0004	0.0053	0.0051	2.987e-05	4.472e-05	0	0	0	0.0026	6.565e-05	0.0005	0.0057	0.0003	0.0003	0.0002	0.0003	0.0060	0.0002	0.0002	0.0043	0.0037	4.817e-05	0	6.542e-05	0	0	0	0.0034	0.0001	0	0.0060	0.356	0.12070	T	0.171	0.30339	T	.	.	.	.	.	.	.	.	.	.	0.999952	0.19072	N	.	.	.	-0.19	0.65931	T	-0.27	0.11366	N	0.444	0.48227	-0.7394	0.58483	T	0.085	0.33269	T	9	0.006380707	0.00144	T	0.009934	0.25856	T	0.115	0.32236	.	.	0.181679512989	0.17746	0.09999171534566688	0.09930	0.262508907343	0.28810	0.47980889678	0.36030	T	.	.	.	-0.507133	0.00521	T	-0.499042	0.22448	T	0.102417654224001	0.12622	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.49265	B	.;.	.;.	1.799731	0.22873	15.80	0.99492814965958343	0.67573	0.37211	0.25710	N	AEFDGHCI	0.097501	0.19664	N	-0.640166366920478	0.17747	0.9158408	-0.610956012351554	0.19212	1.029751	5.25104750500832E-4	0.07225	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	2.14	1.23	0.20358	0.045000	0.13898	-2.546000	0.03624	0.342000	0.19800	0.207000	0.24389	0.000000	0.08366	0.014000	0.10232	0.2034:0.0:0.7966:0.0	4.725	0.12316	889	0.27310	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2365.98	33	chr6	160595441	.	G	C	2365.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.213e+00;DP=909;ExcessHet=0.0000;FS=3.089;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.01;MQRankSum=1.62;QD=11.21;ReadPosRankSum=0.556;SOR=0.922	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1191	20	0	1	0
chr6	160595527	160595527	G	C	exonic	LPA	.	nonsynonymous SNV	LPA:NM_005577:exon21:c.C3296G:p.T1099S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.426	B	0.711	P	.	.	1.000	N	1.04	L	-0.16	T	-0.833	T	0.103	T	0.029	0.752	7.985	-3.0	-0.640	-1.925	2.243	0.098	.	0.0102	0.00998403	0.0030	0.0340	0.0016	0	0	6.005e-05	0	0	0.0028201	436	154602	rs62621433	0.0009	0.0009	0.0010	0.0008	0.0308	0.0009	0.0008	0.0292	0.0286	0.0308	0.0021	0	0	0	0.0009	2.698e-05	0.0024	5.797e-05	0.0100	0.0100	0.0105	0.0095	0.0349	0.0096	0.0094	0.0334	0.0328	0.0349	0	0.0038	0.0003	0	0	0	8.821e-05	0.0043	0	0.152	0.24468	T	0.266	0.32040	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.16	0.65378	T	-0.47	0.15178	N	0.066	0.03841	-0.8328	0.53120	T	0.103	0.38069	T	9	0.0035969913	0.00065	T	.	.	.	0.098	0.28162	.	.	0.110078149338	0.10416	0.17884030703567935	0.17803	0.0464434649399	0.05053	0.66068148613	0.61508	T	.	.	.	-0.647031	0.00075	T	-0.676429	0.07203	T	0.0442386124921351	0.04464	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.48103	B	.;.	.;.	-0.062926	0.03868	0.839	0.94620233042025781	0.25197	0.02409	0.06817	N	AEFDGHCI	0.074665	0.14971	N	-0.840106184231623	0.12294	0.5983772	-1.01405294086214	0.09475	0.471641	0.00192172236108932	0.09011	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	2.31	-3.0	0.05148	-3.493000	0.00504	-20.000000	0.00162	0.342000	0.19800	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.321:0.0:0.2556:0.4234	2.243	0.03777	889	0.27310	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2412.98	33	chr6	160595527	.	G	C	2412.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.34;DP=882;ExcessHet=0.0000;FS=6.211;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.27;MQRankSum=-1.051e+00;QD=13.04;ReadPosRankSum=0.555;SOR=0.401	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1191	20	0	1	0
chr6	160600968	160600968	C	T	exonic	LPA	.	nonsynonymous SNV	LPA:NM_005577:exon19:c.G3076A:p.V1026I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.499	P	0.029	B	.	.	1.000	N	0.285	N	-0.0	T	-1.054	T	0.030	T	0.079	-0.781	0.727	-3.18	-0.729	-2.439	6.379	0.024	0.00544081800771	.	.	4.973e-05	0	8.646e-05	0.0002	0	2.998e-05	0	6.057e-05	3.88e-05	6	154602	rs759100515	5.337e-05	5.336e-05	5.038e-05	5.639e-05	9.277e-05	4.345e-05	4.018e-05	4.579e-05	4.028e-05	0	8.944e-05	3.827e-05	0	0	0	5.576e-05	4.97e-05	9.277e-05	1.314e-05	1.314e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.407	0.10245	T	0.503	0.12107	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.0	0.62608	T	-0.06	0.07882	N	0.054	0.02559	-1.0542	0.13251	T	0.030	0.13111	T	9	0.06141302	0.07696	T	0.005441	0.13984	T	0.024	0.04979	.	.	0.0138822411134	0.00435	0.2147242351725826	0.21388	0.0332195700882	0.03470	0.394214361906	0.24262	T	.	.	.	-0.449959	0.01130	T	-0.658409	0.08375	T	0.0257672644609896	0.01374	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.13737	B	.;.	.;.	-1.963046	0.00110	0.002	0.49796668221216667	0.04272	0.00152	0.00917	N	AEFBI	0.034091	0.04162	N	-1.84851534985706	0.00437	0.01879282	-1.95727056664828	0.00376	0.01660021	8.54938164367714E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.94	-3.18	0.04867	-3.698000	0.00437	-1.259000	0.05884	-4.782000	0.00020	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3282:0.0:0.6718	6.379	0.20729	889	0.27310	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1792.98	34	chr6	160600968	.	C	T	1792.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.877;DP=851;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.45;ReadPosRankSum=0.244;SOR=0.653	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1412	20	0	1	0
chr6	160992024	160992024	-	CCA	exonic	MAP3K4	.	nonframeshift insertion	MAP3K4:NM_001301072:exon1:c.93_94insCCA:p.P36_E37insP	.	.	397	1123	2	0	0	2	0.00088968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	9.149e-05	0	0.0005	3.84e-05	1	26028	rs751708483	7.333e-05	7.8e-05	4.797e-05	9.915e-05	0.0010	6.154e-05	5.747e-05	0.0009	0.0008	0	2.557e-05	0	0	0	0.0004	1.192e-05	6.838e-05	0.0010	2.628e-05	2.625e-05	1.285e-05	4.031e-05	0.0006	8.14e-06	5.14e-06	0.0002	9e-05	0	0	0	0	0	0	0	1.471e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	936.94	35	chr6	160992024	.	G	GCCA	936.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.110e+00;DP=780;ExcessHet=0.0000;FS=4.288;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.82;ReadPosRankSum=-2.290e-01;SOR=0.714	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1127	20	0	1	0
chr6	161049189	161049189	G	A	exonic	MAP3K4	.	nonsynonymous SNV	MAP3K4:NM_001301072:exon3:c.G917A:p.G306E	.	.	431	1084	7	0	0	7	0.00321839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.847	P	0.518	P	0.001	N	0.927	D	1.845	L	1.49	T	-1.108	T	0.059	T	0.593	2.635	14.77	5.1	1.543	2.810	15.221	0.108	0.00650344308442	0.0004	.	0.0004	0	0.0003	0	0	0.0007	0.0011	0	0.0003622	56	154602	rs142968561	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0002	0.0001	5.975e-05	0.0001	0.0064	0	1.872e-05	0.0007	9.713e-05	0.0008	0	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	9.047e-05	7.012e-05	4.83e-05	0	6.55e-05	0.0081	0	0	0	0.0002	0.0010	0	0.114	0.28646	T	0.018	0.76473	D	0.814	0.46818	P	0.518	0.48133	P	0.001038	0.40562	N	0.212895	0.927119	0.36855	D	1.575	0.39704	L	1.49	0.31470	T	-1.5	0.36586	N	0.224	0.25130	-1.1079	0.03256	T	0.059	0.24871	T	10	0.008900374	0.00202	T	0.006503	0.17129	T	0.108	0.30607	.	.	0.359705090764	0.35578	0.4860995178127367	0.48529	0.387767246045	0.40052	0.572111129761	0.48977	T	0.076928	0.35535	T	-0.28249	0.10405	T	-0.348719	0.39351	T	0.0473520444983293	0.05028	T	0.833717	0.50261	T	0.11836501	0.27888	0.16227445	0.37703	0.11836501	0.27888	0.16227445	0.37702	-3.077	0.11068	T	.	.	0.141	0.38227	B	.;.;.;.	.;.;.;.	2.646694	0.34451	19.63	0.99334694481154717	0.59934	0.86671	0.46001	D	AEFBCI	0.266274	0.38322	N	0.306840207184875	0.56498	3.81469	0.353751700193776	0.58733	4.045768	0.999999958903758	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.96	5.1	0.68917	2.891000	0.48316	7.484000	0.59291	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0671:0.0:0.9329:0.0	15.221	0.73001	900	0.24599	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1718.98	40	chr6	161049189	.	G	A	1718.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.94;DP=950;ExcessHet=0.0000;FS=1.403;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.54;ReadPosRankSum=0.708;SOR=0.558	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr6	161139586	161139586	G	A	exonic	AGPAT4	.	nonsynonymous SNV	AGPAT4:NM_020133:exon8:c.C878T:p.T293I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.023	B	0.012	B	0.596	N	1.000	N	0.75	N	1.47	T	-0.974	T	0.019	T	0.032	1.579	11.24	2.59	0.328	0.596	7.564	0.021	0.0119487896446	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1479412309	6.843e-07	6.84e-07	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	1.97e-05	1.968e-05	2.57e-05	1.344e-05	0.0002	5.24e-06	2.45e-06	7.98e-06	2.98e-06	4.813e-05	0	0	0	0	0	0	0	0	0.0002	0.227	0.18498	T	0.213	0.26467	T	0.0	0.02946	B	0.001	0.04355	B	0.596028	0.11003	N	0.836229	1	0.08975	N	1.08	0.27187	L	1.47	0.31987	T	-2.0	0.46146	N	0.113	0.10056	-0.9741	0.36323	T	0.019	0.08126	T	10	0.08887109	0.15343	T	0.011949	0.30076	T	0.021	0.04004	0.316	0.29258	0.043077524339	0.03247	0.32973086744049046	0.32886	0.795556768114	0.66026	0.384480178356	0.22890	T	0.112059	0.42804	T	-0.336844	0.05610	T	-0.72163	0.04717	T	0.0938196778297424	0.11664	T	0.419858	0.11135	T	0.048303947	0.08396	0.06462313	0.12978	0.048303947	0.08396	0.06462313	0.12978	-4.636	0.32621	T	.	.	0.075	0.05668	B	.	.	1.620281	0.20694	14.87	0.99132818409249923	0.53302	0.30397	0.24072	N	AEFBCI	0.036488	0.04869	N	-0.492991783003352	0.22309	1.190377	-0.370199737402445	0.25890	1.426607	0.858850227393866	0.25186	0.651	0.46895	0	0.550933	0.16991	0	0.643519	0.47002	0	0.683762	0.67416	0	.	.	5.17	2.59	0.30091	0.647000	0.24500	3.619000	0.39279	0.660000	0.55035	0.690000	0.28531	1.000000	0.68203	0.912000	0.44740	0.3856:0.0:0.6144:0.0	7.564	0.27033	870	0.31527	Acyltransferase, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1440.98	40	chr6	161139586	.	G	A	1440.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.130e-01;DP=812;ExcessHet=0.0000;FS=2.281;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=-9.200e-02;SOR=0.906	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1150	20	0	1	0
chr6	162443380	162443380	T	C	exonic	PRKN	.	nonsynonymous SNV	PRKN:NM_004562:exon2:c.A101G:p.Q34R	Adenocarcinoma of lung, somatic;Adenocarcinoma, ovarian, somatic;Parkinson disease, juvenile, type 2, Autosomal recessive	YES	3	1515	4	0	0	4	0.00131839	.	.	455534	not_provided|Autosomal_recessive_juvenile_Parkinson_disease_2|not_specified	MedGen:C3661900|MONDO:MONDO:0010820,MedGen:C1868675,OMIM:600116,Orphanet:2828|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.993	D	0.000	D	1.000	D	2.42	M	-0.88	T	0.130	D	0.528	D	0.578	4.351	22.9	5.63	2.263	2.718	16.131	0.595	.	0.0025	0.0081869	0.0034	0.0094	0.0009	0.0001	0	1.5e-05	0.0022	0.0184	0.0030853	477	154602	rs148851677	0.0014	0.0014	0.0010	0.0017	0.0166	0.0013	0.0013	0.0159	0.0156	0.0109	0.0007	0	0.0002	0	0.0009	2.88e-05	0.0022	0.0166	0.0033	0.0033	0.0031	0.0034	0.0162	0.0030	0.0029	0.0133	0.0122	0.0096	0	0.0007	0	0.0002	0	0	0	0.0033	0.0162	0.026	0.48642	D	0.066	0.44501	T	0.999	0.77913	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.973898	0.81001	D	.	.	.	-0.88	0.74689	T	-1.94	0.47514	N	0.364	0.44857	0.130	0.84715	D	0.528	0.82453	D	10	0.011427194	0.00250	T	.	.	.	0.595	0.83911	.	.	0.920662201329	0.91985	0.6744385748929309	0.67381	0.370885923186	0.38597	0.451648652554	0.32169	T	0.215053	0.57682	T	-0.283903	0.10259	T	-0.166957	0.57722	T	0.0140150988072815	0.00270	T	0.715328	0.32778	T	0.7590895	0.81399	0.66654766	0.80446	0.76944906	0.82016	0.6756957	0.80957	-5.883	0.82341	T	0.27883801795347196	0.37380	0.174	0.59865	B	.;.;.;.	.;.;.;.	3.756678	0.53882	23.4	0.99844308664107051	0.92403	0.80530	0.40143	D	AEFDGCIJ	0.509174	0.53875	D	0.66882249893939	0.77592	6.704351	0.64370477078755	0.78143	6.817274	0.999992889324479	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.577349	0.28860	0	0.620846	0.47308	0	.	.	5.63	5.63	0.86108	2.696000	0.46719	5.040000	0.46903	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	16.131	0.81247	979	0.04160	Ubiquitin domain|Ubiquitin domain|Ubiquitin domain;.;.;Ubiquitin domain|Ubiquitin domain|Ubiquitin domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1553.98	33	chr6	162443380	.	T	C	1553.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.352;DP=902;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.03;ReadPosRankSum=-7.690e-01;SOR=0.721	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1371	20	0	1	0
chr6	163314913	163314913	C	T	exonic	PACRG	.	nonsynonymous SNV	PACRG:NM_001080379:exon5:c.C700T:p.R234C	.	.	422	1084	15	1	0	17	0.00778032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.434	B	0.133	B	0.000	D	1.000	D	2.475	M	0.78	T	-0.918	T	0.115	T	0.68	2.870	15.56	5.87	2.941	4.001	15.652	0.180	0.0231140770078	0.0043	0.000998403	0.0031	0.0010	0.0016	0.0018	0	0.0046	0.0033	0.0010	0.0031112	481	154602	rs34421506	0.0047	0.0047	0.0048	0.0046	0.0056	0.0046	0.0046	0.0054	0.0054	0.0010	0.0018	0.0049	0.0008	0.0005	0.0038	0.0056	0.0054	0.0011	0.0036	0.0036	0.0039	0.0033	0.0056	0.0033	0.0032	0.0051	0.0049	0.0019	0	0.0027	0.0052	0.0027	0.0004	0	0.0056	0.0047	0.0006	0.045	0.40832	D	0.125	0.38016	T	0.434	0.35666	B	0.133	0.33073	B	0.000052	0.53742	D	0.166056	1	0.81001	D	1.975	0.53506	M	0.78	0.49358	T	-4.32	0.77470	D	0.434	0.51315	-0.9183	0.45783	T	0.115	0.40695	T	10	0.013283074	0.00282	T	0.023114	0.46062	T	0.180	0.45073	.	.	0.795857371954	0.79396	0.647155621750776	0.64650	1.04843531002	0.76047	0.539970397949	0.44441	T	0.552137	0.84854	D	-0.281695	0.10489	T	-0.176459	0.56850	T	0.043927942551085	0.04408	T	0.971203	0.89615	D	0.2774013	0.50798	0.165402	0.38266	0.2774013	0.50798	0.165402	0.38265	-7.206	0.68376	T	0.4786434733815023	0.55772	0.195	0.41557	B	.;.;.;.	.;.;.;.	4.257832	0.64686	24.7	0.99588917464585447	0.73454	0.92694	0.56318	D	AEFDBI	0.653127	0.62627	D	0.342748412360156	0.58357	4.007499	0.462958026994666	0.65555	4.838387	0.999999991226953	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.87	5.87	0.94266	4.047000	0.57095	4.771000	0.44774	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.9328:0.0:0.0672	15.652	0.76863	968	0.07033	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3898.98	35	chr6	163314913	.	C	T	3898.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.440e-01;DP=1036;ExcessHet=0.0000;FS=2.331;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=-3.490e-01;SOR=0.841	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1423	20	0	1	0
chr6	165395227	165395227	G	C	exonic	PDE10A	.	nonsynonymous SNV	PDE10A:NM_001130690:exon15:c.C1459G:p.P487A	Dyskinesia, limb and orofacial, infantile-onset, Autosomal recessive;Striatal degeneration, autosomal dominant, Autosomal dominant	.	427	1092	3	0	0	3	0.00137174	.	.	413738	not_provided|PDE10A-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.999	D	0.988	D	0.000	D	1.000	D	1.15	L	-0.88	T	-0.584	T	0.327	T	0.771	2.988	15.96	5.57	2.619	9.475	19.563	0.514	0.0303236808807	0.0055	0.00239617	0.0045	0.0020	0.0012	0	0.0035	0.0072	0.0011	0.0005	0.0048253	746	154602	rs61733392	0.0069	0.0070	0.0072	0.0067	0.0084	0.0068	0.0068	0.0083	0.0082	0.0010	0.0017	0.0070	0	0.0032	0.0014	0.0084	0.0052	0.0004	0.0047	0.0047	0.0051	0.0042	0.0079	0.0044	0.0043	0.0073	0.0071	0.0017	0.0033	0.0025	0.0058	0	0.0025	0	0.0079	0.0061	0.0010	.	.	.	.	.	.	0.108	0.26116	B	0.024	0.20255	B	0.000002	0.62929	D	0.103311	1	0.81001	D	2.25	0.63811	M	.	.	.	.	.	.	.	.	-0.5835	0.65478	T	0.327	0.69547	T	10	0.0108220875	0.00239	T	0.030324	0.52661	D	0.514	0.79217	.	.	0.596215507535	0.59301	0.9564011803098554	0.95625	1.68445801464	0.90041	0.610611796379	0.54402	T	0.02402	0.54383	T	-0.124018	0.32469	T	0.0537859	0.73833	D	0.0421576177729157	0.04083	T	0.966803	0.87909	D	0.32890666	0.55382	0.17875467	0.40566	0.36651084	0.58326	0.20650785	0.44867	-7.634	0.58952	D	.	.	0.383	0.60894	A	.;.;.;.;.;.	.;.;.;.;.;.	4.314174	0.65970	24.9	0.9649163388610511	0.30009	0.99424	0.95853	D	AEFI	0.914466	0.87786	D	0.306150848548784	0.56464	3.811105	0.445242379398757	0.64412	4.695797	0.9999999978744	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.57	5.57	0.84021	9.638000	0.97833	11.697000	0.94442	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.563	0.95373	993	0.01300	.;.;.;.;.;3'5'-cyclic nucleotide phosphodiesterase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1147.98	33	chr6	165395227	.	G	C	1147.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.846e+00;DP=832;ExcessHet=0.0000;FS=1.554;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.63;ReadPosRankSum=-1.009e+00;SOR=0.530	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1191	20	0	1	0
chr6	165662348	165662348	-	CCG	exonic	PDE10A	.	nonframeshift insertion	PDE10A:NM_001385079:exon1:c.463_464insCGG:p.A154_G155insA,	Dyskinesia, limb and orofacial, infantile-onset, Autosomal recessive;Striatal degeneration, autosomal dominant, Autosomal dominant	.	66	158	0	2	0	4	0.0125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs879175879	0.0034	0.0005	0.0024	0.0038	0.0502	0.0027	0.0024	0.0352	0.0302	0.0091	0.0048	0	0.0502	0	0	0.0017	0	0.0014	0.0030	0.0032	0.0029	0.0032	0.0411	0.0028	0.0027	0.0365	0.0347	0.0028	0	0.0018	0	0.0411	0.0002	0	0.0013	0.0010	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	52.07	8	chr6	165662348	.	C	CCCG	52.07	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.190e-01;DP=249;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0326;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.51;ReadPosRankSum=-1.800e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:3,0:3:9:0,9,83	20	0	1	0
chr6	166451198	166451198	G	A	exonic	RPS6KA2	.	nonsynonymous SNV	RPS6KA2:NM_001318937:exon11:c.C817T:p.H273Y	.	.	421	1094	7	0	0	7	0.00318907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.094	B	0.068	B	0.012	N	1.000	D	0	N	0.38	T	-1.060	T	0.043	T	0.256	0.955	8.897	2.48	1.084	3.919	12.306	0.119	0.00806985491356	0.0032	0.000599042	0.0026	0.0008	0.0004	0	0.0003	0.0042	0.0011	0.0012	0.0025161	389	154602	rs61733655	0.0031	0.0031	0.0030	0.0032	0.0061	0.0030	0.0030	0.0045	0.0039	0.0004	0.0007	0.0117	0	0.0003	0.0061	0.0034	0.0031	0.0011	0.0018	0.0019	0.0020	0.0017	0.0029	0.0017	0.0016	0.0026	0.0025	0.0006	0.0022	0.0006	0.0104	0	0.0003	0.0034	0.0029	0.0009	0.0010	0.061	0.49613	T	0.005	0.74150	D	0.094	0.25382	B	0.068	0.27651	B	0.012171	0.29266	N	0.353676	0.976511	0.39283	D	0.345	0.11182	N	0.38	0.57575	T	-1.75	0.42763	N	0.194	0.25253	-1.0604	0.11656	T	0.043	0.18659	T	10	0.009828061	0.00221	T	0.00807	0.21393	T	0.119	0.33137	.	.	0.578844998551	0.57554	0.18863790229908248	0.18781	0.626576871202	0.56787	0.630037069321	0.57151	T	0.091962	0.38904	T	-0.424184	0.01609	T	-0.383244	0.35343	T	0.0197422442216638	0.00676	T	0.941906	0.78638	D	0.06875783	0.15006	0.12741864	0.30671	0.06875783	0.15006	0.12741864	0.30670	-10.449	0.76554	D	.	.	0.108	0.20469	B	.;.;.;.;.	.;.;.;.;.	3.600819	0.50864	23.0	0.96554860504224183	0.30236	0.95933	0.66783	D	AEFDBI	0.618835	0.60449	D	-0.754001780490029	0.14525	0.7242442	-0.685068007799395	0.17334	0.9212374	0.959294423193649	0.28417	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.36	2.48	0.29194	4.239000	0.58490	8.249000	0.76860	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.146000	0.20164	0.0:0.0:0.6939:0.306	12.306	0.54224	994	0.00715	Protein kinase, C-terminal|AGC-kinase, C-terminal|AGC-kinase, C-terminal;Protein kinase, C-terminal|AGC-kinase, C-terminal|AGC-kinase, C-terminal;.;Protein kinase, C-terminal|AGC-kinase, C-terminal|AGC-kinase, C-terminal;Protein kinase, C-terminal|AGC-kinase, C-terminal|AGC-kinase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1554.98	33	chr6	166451198	.	G	A	1554.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.390e-01;DP=856;ExcessHet=0.0000;FS=0.635;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.35;ReadPosRankSum=-5.590e-01;SOR=0.801	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1290	20	0	1	0
chr6	167305957	167305957	G	A	exonic	UNC93A	.	nonsynonymous SNV	UNC93A:NM_001143947:exon5:c.G757A:p.V253M	.	.	424	1093	5	0	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.989	D	0.613	P	0.000	N	1.000	D	2.78	M	2.27	T	-0.253	T	0.421	T	0.529	3.021	16.08	2.94	0.437	2.433	9.268	0.216	.	0.0026	0.00738818	0.0044	0.0008	0.0250	0	0.0059	0.0027	0.0033	0.0010	0.0046701	722	154602	rs4708771	0.0041	0.0041	0.0044	0.0039	0.0281	0.0040	0.0040	0.0268	0.0263	0.0011	0.0281	0.0007	0	0.0068	0.0003	0.0036	0.0038	0.0010	0.0057	0.0057	0.0049	0.0065	0.0352	0.0053	0.0052	0.0327	0.0317	0.0008	0	0.0352	0.0012	0	0.0068	0	0.0030	0.0028	0.0012	0.019	0.50132	D	0.022	0.58089	D	0.98	0.59353	D	0.613	0.51171	P	0.000075	0.52346	N	0.128014	1	0.81001	D	2.695	0.78878	M	2.27	0.81399	T	-2.43	0.53736	N	0.306	0.41459	-0.2533	0.76270	T	0.421	0.76630	T	10	0.0067561865	0.00153	T	.	.	.	0.216	0.50959	.	.	0.710806825143	0.70827	0.5121865667800289	0.51140	0.380978579987	0.39459	0.471067488194	0.34828	T	0.082717	0.36891	T	-0.240619	0.15270	T	-0.0926473	0.63962	T	0.0400936542817348	0.03707	T	0.877812	0.64631	D	0.13384199	0.31117	0.23112215	0.48234	0.13384199	0.31117	0.23112215	0.48233	-10.411	0.77783	D	.	.	0.245	0.52426	B	.;.	.;.	4.042223	0.59857	24.1	0.99846314661029345	0.92576	0.75182	0.36800	D	AEFDBCI	0.377557	0.46128	N	0.274732847084776	0.54871	3.651798	0.18526895338651	0.49038	3.112034	0.998278402029995	0.36679	0.446893	0.09132	0	0.563428	0.19063	0	0.491513	0.07944	0	0.613276	0.41899	0	.	.	4.72	2.94	0.33188	2.613000	0.46015	5.218000	0.47990	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.847000	0.40026	0.2457:0.0:0.7543:0.0	9.268	0.36813	994	0.00715	Major facilitator superfamily domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2080.98	40	chr6	167305957	.	G	A	2080.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.204;DP=904;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=-8.630e-01;SOR=0.652	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1328	20	0	1	0
chr6	167315412	167315412	T	C	exonic	UNC93A	.	nonsynonymous SNV	UNC93A:NM_001143947:exon7:c.T1208C:p.V403A	.	.	413	1039	70	0	0	70	0.0325885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.0	B	0.0	B	0.029	N	1.000	N	-0.69	N	3.65	T	-0.932	T	0.001	T	0.026	-0.444	1.940	-3.95	-0.778	-0.774	0.201	0.047	0.00171249185324	.	.	0.0023	0.0020	0.0004	0.0024	0.0026	0.0029	0.0077	0.0012	7.68e-05	2	26028	rs752323292	0.0005	0.0067	0.0005	0.0005	0.0041	0.0004	0.0004	0.0036	0.0034	0.0001	2.266e-05	7.901e-05	0.0041	0.0010	0.0014	0.0003	0.0008	0.0006	0.0006	0.0063	0.0006	0.0007	0.0017	0.0005	0.0005	0.0008	0.0006	0.0004	0	0.0004	0	0.0017	0.0011	0	0.0007	0.0005	0.0014	0.755	0.03533	T	0.788	0.04220	T	0.0	0.02946	B	0.0	0.01387	B	0.029466	0.01703	N	2.657010	1	0.08975	N	-0.895	0.01383	N	3.61	0.04446	T	0.85	0.01736	N	0.022	0.00666	-0.9323	0.43799	T	0.001	0.00438	T	10	0.006008148	0.00135	T	0.001712	0.02856	T	0.047	0.12962	.	.	0.0138822411134	0.00435	0.13178615577524272	0.13103	0.284254945411	0.30848	0.244545891881	0.03215	T	0.001207	0.00701	T	-0.446715	0.01181	T	-0.879451	0.00658	T	0.00895254053920366	0.00112	T	0.0821918	0.00603	T	0.016546153	0.00205	0.036088627	0.02986	0.016546153	0.00205	0.036088627	0.02986	-3.06	0.12914	T	.	.	0.058	0.02578	B	.;.	.;.	-0.244935	0.02869	0.407	0.4228581334093004	0.03107	0.00142	0.00866	N	AEFDGBI	0.051140	0.09005	N	-1.66025916697445	0.00992	0.04303088	-1.6744461208731	0.01255	0.05655026	0.812093583063515	0.24374	0.59774	0.34471	0	0.627178	0.54094	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	3.86	-3.95	0.03844	-0.367000	0.07607	-3.275000	0.02915	-0.423000	0.05224	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3648:0.155:0.2022:0.2779	0.201	0.00135	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	277.11	83	chr6	167315412	.	T	C	277.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.15;DP=1145;ExcessHet=0.1072;FS=4.825;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=56.65;MQRankSum=-6.308e+00;QD=1.56;ReadPosRankSum=0.143;SOR=0.863	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485	19	0	2	0
chr6	167340300	167340300	G	A	exonic	TTLL2	.	nonsynonymous SNV	TTLL2:NM_031949:exon3:c.G400A:p.E134K,	.	.	434	1073	15	0	0	15	0.00694123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.994	D	0.838	P	0.062	N	1.000	N	1.12	L	4.34	T	-0.926	T	0.005	T	0.155	2.800	15.32	0.406	-0.049	1.391	5.231	0.103	0.00239125322083	0.0032	0.000998403	0.0032	0.0005	0.0009	0	0.0012	0.0054	0.0011	0.0004	0.0031824	492	154602	rs148797490	0.0038	0.0038	0.0039	0.0038	0.0076	0.0037	0.0037	0.0058	0.0052	0.0007	0.0015	0.0171	2.519e-05	0.0016	0.0076	0.0042	0.0042	0.0007	0.0024	0.0024	0.0026	0.0023	0.0035	0.0022	0.0021	0.0031	0.0030	0.0007	0	0.0019	0.0141	0	0.0012	0.0068	0.0035	0.0028	0.0002	0.149	0.24758	T	0.212	0.26549	T	0.994	0.66517	D	0.838	0.60045	P	0.061986	0.22130	N	0.365080	1	0.08975	N	1.64	0.41913	L	4.34	0.02341	T	-2.53	0.54864	D	0.105	0.08925	-0.9262	0.44688	T	0.005	0.01506	T	10	0.005413413	0.00119	T	0.002391	0.04673	T	0.103	0.29403	.	.	0.0551355673512	0.04727	0.3155434795212186	0.31467	0.154269521576	0.17418	0.246498063207	0.03408	T	0.008864	0.08111	T	-0.593262	0.00160	T	-0.624552	0.10831	T	0.0221157648079475	0.00922	T	0.629237	0.24427	T	0.14672776	0.33574	0.08908074	0.20810	0.14672776	0.33574	0.08908074	0.20810	-6.98	0.53888	T	.	.	0.098	0.41295	B	.;.	.;.	1.471882	0.18960	14.02	0.99585378178468176	0.73277	0.06160	0.12142	N	AEFBI	0.063584	0.12296	N	-0.475668282750746	0.22880	1.224798	-0.681319809820515	0.17428	0.9266627	0.375468095774333	0.19910	0.57788	0.32782	0	0.59043	0.45803	0	0.608075	0.38828	0	0.564101	0.26826	0	.	.	3.37	0.406	0.15584	1.142000	0.31152	0.614000	0.20061	0.526000	0.24426	0.188000	0.24163	0.003000	0.18671	0.003000	0.05239	0.2043:0.1699:0.6258:0.0	5.231	0.14742	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2887.98	35	chr6	167340300	.	G	A	2887.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=1822;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=1.24;SOR=0.706	GT:AD:DP:GQ:PL	0/0:134,0:134:99:0,120,1800	20	0	1	0
chr6	167341336	167341336	G	A	exonic	TTLL2	.	nonsynonymous SNV	TTLL2:NM_031949:exon3:c.G1436A:p.R479H,	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.0	B	0.0	B	0.601	N	1.000	N	0	N	4.33	T	-0.952	T	0.002	T	0.055	-0.389	2.176	1.02	0.085	0.476	7.431	0.017	0.000709278487277	7.7e-05	.	2.479e-05	0	8.664e-05	0	0	3.006e-05	0	0	2.59e-05	4	154602	rs138482235	8.277e-05	8.277e-05	8.576e-05	7.975e-05	0.0003	7.069e-05	6.618e-05	0.0002	0.0002	5.974e-05	0.0003	7.652e-05	5.038e-05	1.872e-05	0	7.194e-05	0.0003	4.637e-05	0.0003	0.0003	0.0003	0.0002	0.0016	0.0002	0.0002	0.0011	0.0010	0.0001	0	0.0016	0	0	0	0	7.356e-05	0.0014	0	0.577	0.06049	T	0.557	0.09205	T	0.0	0.02946	B	0.0	0.01387	B	0.601189	0.10957	N	0.803881	1	0.08975	N	0	0.06538	N	4.33	0.02363	T	-0.2	0.10136	N	0.043	0.01577	-0.9524	0.40555	T	0.002	0.00497	T	10	0.020542055	0.00475	T	7.09E-4	0.00454	T	0.017	0.02790	.	.	0.0138822411134	0.00435	0.2168972768688237	0.21605	0.147340464007	0.16621	0.206704854965	0.00679	T	0.001804	0.01223	T	-0.557214	0.00264	T	-0.801507	0.01865	T	0.00457232538610697	0.00049	T	0.417258	0.10990	T	0.0255889	0.01514	0.029868804	0.01372	0.0255889	0.01514	0.029868804	0.01372	-3.874	0.21913	T	.	.	0.066	0.02285	B	.;.	.;.	0.442227	0.08122	4.854	0.45268593979235477	0.03541	0.00697	0.02968	N	AEFGBHCI	0.039147	0.05645	N	-1.57784462824029	0.01379	0.06009875	-1.55110636466353	0.01968	0.08988614	0.980524388563841	0.30146	0.57788	0.32782	0	0.563428	0.19063	0	0.608075	0.38828	0	0.564101	0.26826	0	.	.	3.85	1.02	0.19102	0.543000	0.22945	-1.188000	0.06077	-0.282000	0.06404	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.4544:0.0:0.5456:0.0	7.431	0.26303	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2283.98	39	chr6	167341336	.	G	A	2283.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=978;ExcessHet=0.0000;FS=5.374;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.28;ReadPosRankSum=0.089;SOR=0.889	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr6	167341660	167341660	T	C	exonic	TTLL2	.	nonsynonymous SNV	TTLL2:NM_031949:exon3:c.T1760C:p.M587T,	.	.	436	1072	11	3	0	17	0.00786673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.001	B	0.001	B	0.236	N	1.000	N	0.255	N	4.43	T	-0.955	T	0.001	T	0.082	-0.250	2.795	-4.57	-0.810	-0.062	6.017	0.016	0.000771545557268	0.0024	0.00119808	0.0035	0.0004	0.0036	0	0.0009	0.0052	0.0059	0.0008	0.0032341	500	154602	rs149701744	0.0035	0.0035	0.0035	0.0035	0.0128	0.0034	0.0034	0.0104	0.0095	0.0009	0.0039	0.0251	2.521e-05	0.0015	0.0128	0.0034	0.0052	0.0006	0.0029	0.0029	0.0031	0.0027	0.0050	0.0027	0.0026	0.0041	0.0038	0.0006	0	0.0050	0.0242	0.0002	0.0014	0.0102	0.0033	0.0071	0.0002	0.369	0.11586	T	0.677	0.06166	T	0.001	0.07471	B	0.001	0.04355	B	0.236204	0.15812	N	0.579039	1	0.08975	N	0.55	0.14455	N	4.43	0.02158	T	-0.65	0.18877	N	0.105	0.08925	-0.9545	0.40185	T	0.001	0.00348	T	10	0.0036715567	0.00067	T	7.72E-4	0.00568	T	0.016	0.02506	.	.	0.0138822411134	0.00435	0.4669118121956997	0.46610	0.139089578286	0.15683	0.391457080841	0.23875	T	8.79E-4	0.00441	T	-0.703697	0.00035	T	-0.784744	0.02313	T	0.0019566949524561	0.00020	T	0.346065	0.07604	T	0.042237915	0.06368	0.065870985	0.13414	0.042237915	0.06367	0.065870985	0.13413	-2.772	0.07928	T	.	.	0.156	0.34602	B	.;.	.;.	-0.832833	0.01044	0.044	0.24974204020104318	0.01130	0.01242	0.04380	N	AEFDBCI	0.055174	0.10095	N	-1.3886761404315	0.02743	0.1215813	-1.45121540507894	0.02759	0.1274935	0.999963506485023	0.48965	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.04	-4.57	0.03178	-0.087000	0.11181	-7.104000	0.01230	0.519000	0.23678	0.000000	0.06391	0.000000	0.08366	0.211000	0.22211	0.1237:0.3907:0.0:0.4856	6.017	0.18834	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	661.98	39	chr6	167341660	.	T	C	661.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.560e-01;DP=733;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.39;ReadPosRankSum=-1.440e-01;SOR=0.818	GT:AD:DP:GQ:PL	0/0:37,0:37:90:0,90,1350	20	0	1	0
chr6	167944014	167944014	G	A	exonic	AFDN	.	nonsynonymous SNV	AFDN:NM_001207008:exon24:c.G3241A:p.G1081S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	2.35	M	3.58	T	-1.128	T	0.049	T	0.596	5.538	35	5.03	2.320	9.268	18.395	0.381	0.0352764891243	.	.	9.889e-05	9.612e-05	0.0003	0	0	0	0.0022	0.0004	7.76e-05	12	154602	rs759240178	5.267e-05	5.267e-05	4.492e-05	6.05e-05	0.0003	4.277e-05	3.953e-05	0.0002	0.0002	2.987e-05	0	0	0	0	0.0002	3.507e-05	9.935e-05	0.0003	1.972e-05	1.97e-05	2.57e-05	1.346e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.006	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.25	0.63811	M	3.58	0.05642	T	-5.99	0.89401	D	0.658	0.73015	-1.1277	0.01896	T	0.049	0.20711	T	10	0.5066035	0.61854	D	0.035276	0.56238	D	0.381	0.69863	0.416	0.45544	0.367638622828	0.36380	0.6305355530514919	0.62987	1.08563880484	0.77273	0.809430718422	0.83405	D	0.372552	0.98555	T	-0.266921	0.12103	T	-0.284931	0.46297	T	0.605706036090851	0.36628	D	0.998031	0.99112	D	0.68518317	0.77249	0.61968035	0.77848	0.68518317	0.77251	0.61968035	0.77849	-9.587	0.72681	D	.	.	0.953	0.90483	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.326306	0.89388	30	0.99891544583183389	0.96513	0.99546	0.97297	D	AEFBI	0.944433	0.95151	D	0.872205862911751	0.90333	10.35691	0.831965880714993	0.91919	11.13857	0.999999999975418	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.03	5.03	0.67015	9.393000	0.96618	11.549000	0.93171	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.395	0.90441	.	.	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1449.98	34	chr6	167944014	.	G	A	1449.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.360e-01;DP=810;ExcessHet=0.0000;FS=2.333;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=-2.880e-01;SOR=0.933	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1214	20	0	1	0
chr6	167966010	167966010	A	G	exonic	AFDN	.	nonsynonymous SNV	AFDN:NM_001291964:exon31:c.A5072G:p.N1691S	.	.	361	1158	3	0	0	3	0.00129366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.0	B	0.001	B	0.324	N	0.951	N	.	.	3.84	T	-0.939	T	0.003	T	0.025	1.056	9.314	-4.72	-1.246	0.877	7.276	0.080	0.0146330820705	.	0.000399361	0.0001	0.0007	0	0	0	0	0	0.0001	2.59e-05	4	154602	rs570431188	3.148e-05	3.078e-05	2.4e-05	3.916e-05	0.0004	2.386e-05	2.125e-05	0.0002	0.0002	0	8.403e-05	0	2.798e-05	0	0.0004	8.341e-06	6.897e-05	0.0003	9.193e-05	9.185e-05	7.711e-05	0.0001	0.0010	5.524e-05	4.362e-05	0.0004	0.0003	9.626e-05	0	0.0001	0	0	0	0	2.94e-05	0.0005	0.0010	0.222	0.19361	T	0.21	0.26714	T	0.0	0.02946	B	0.001	0.04355	B	0.323950	0.14224	N	0.691920	0.99999	0.26500	N	1.525	0.38595	L	3.74	0.03951	T	-0.81	0.22294	N	0.059	0.07398	-0.9394	0.42711	T	0.003	0.00994	T	9	0.017754346	0.00381	T	0.014633	0.34872	T	0.080	0.23350	0.18	0.08751	0.043077524339	0.03247	0.162663734501286	0.16186	.	.	.	.	.	0.023079	0.70060	T	-0.589973	0.00168	T	-0.78904	0.02191	T	0.021687271521823	0.00873	T	0.805919	0.45429	T	0.040872682	0.05915	0.02856619	0.01105	0.040872682	0.05915	0.02856619	0.01105	-2.726	0.07523	T	.	.	0.069	0.03736	B	.;.;.;.	.;.;.;.	0.879320	0.12522	9.054	0.81187520863439511	0.13562	0.66241	0.33010	D	AEFDBI	0.094559	0.19117	N	-0.77663213839146	0.13920	0.6893732	-0.801007497539816	0.14471	0.7562783	0.999968952471454	0.48965	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.85	-4.72	0.03032	0.880000	0.27798	0.214000	0.15995	0.756000	0.94297	0.994000	0.38300	0.000000	0.08366	0.997000	0.79791	0.2934:0.4897:0.2169:0.0	7.276	0.25455	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2034.98	33	chr6	167966010	.	A	G	2034.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.080e+00;DP=882;ExcessHet=0.0000;FS=1.168;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=-9.020e-01;SOR=0.811	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1121	20	0	1	0
chr6	167976259	167976342	CAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	-	exonic	HGC6.3	.	nonframeshift deletion	HGC6.3:NM_001129895:exon1:c.311_394del:p.V104_T131del,	.	.	452	926	15	0	129	144	0.00803428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	0.0028	0.0077	0	0	0.0053	0	0.0037	.	.	.	.	0.0001	0.0003	0.0001	0.0001	0.0030	9.78e-05	9.099e-05	0.0017	0.0013	0.0002	0	0	0.0003	0.0002	0.0030	0.0001	0.0001	8.545e-05	0.0002	0.0008	0.0002	0.0003	0.0009	0.0002	0.0002	0.0003	0.0001	2.975e-05	0	0.0003	0.0010	0.0003	0.0003	0.0050	0.0003	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	903.78	88	chr6	167976258	.	GCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	G,*	903.78	.	AC=1,9;AF=0.024,0.214;AN=42;BaseQRankSum=0.795;DP=1112;ExcessHet=0.0097;FS=23.164;InbreedingCoeff=0.4872;MLEAC=1,9;MLEAF=0.024,0.214;MQ=52.39;MQRankSum=0.079;QD=2.73;ReadPosRankSum=0.126;SOR=1.256	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,34:34:99:1|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:1519,1519,1519,104,104,0:167976249	14	0	1	0
chr6	167976258	167976342	GCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	0	exonic	HGC6.3	.	.	.	.	.	452	926	15	0	129	144	0.00803428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	903.78	88	chr6	167976258	.	GCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	G,*	903.78	.	AC=1,9;AF=0.024,0.214;AN=42;BaseQRankSum=0.795;DP=1112;ExcessHet=0.0097;FS=23.164;InbreedingCoeff=0.4872;MLEAC=1,9;MLEAF=0.024,0.214;MQ=52.39;MQRankSum=0.079;QD=2.73;ReadPosRankSum=0.126;SOR=1.256	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,34:34:99:1|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:1519,1519,1519,104,104,0:167976249	14	0	1	0
chr6	167976273	167976273	A	0	exonic	HGC6.3	.	.	.	.	.	664	522	164	53	119	389	0.205479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	3195.59	88	chr6	167976273	.	A	*,C	3195.59	.	AC=10,6;AF=0.250,0.150;AN=40;BaseQRankSum=0.163;DP=1063;ExcessHet=1.8260;FS=13.368;InbreedingCoeff=0.0227;MLEAC=10,5;MLEAF=0.250,0.125;MQ=55.81;MQRankSum=-3.188e+00;QD=4.92;ReadPosRankSum=0.937;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,34,0:34:99:1|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:1519,104,0,1519,104,1519:167976249	7	3	4	1
chr6	167976287	167976287	T	0	exonic	HGC6.3	.	.	.	.	.	7	149	13	0	57	70	0.0418006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	711.4	88	chr6	167976287	.	T	G,*	711.4	.	AC=2,8;AF=0.050,0.200;AN=40;BaseQRankSum=0.231;DP=1079;ExcessHet=0.2410;FS=14.973;InbreedingCoeff=0.2323;MLEAC=2,8;MLEAF=0.050,0.200;MQ=55.12;MQRankSum=2.13;QD=1.96;ReadPosRankSum=-5.620e-01;SOR=1.152	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,34:34:99:1|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:1519,1519,1519,104,104,0:167976249	12	0	2	1
chr6	167976288	167976288	T	0	exonic	HGC6.3	.	.	.	.	.	556	780	60	5	121	191	0.0429448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	677.4	88	chr6	167976288	.	T	G,*	677.4	.	AC=2,8;AF=0.050,0.200;AN=40;BaseQRankSum=1.98;DP=1079;ExcessHet=0.2410;FS=14.840;InbreedingCoeff=0.2323;MLEAC=2,8;MLEAF=0.050,0.200;MQ=54.99;MQRankSum=2.13;QD=1.88;ReadPosRankSum=-6.700e-01;SOR=1.164	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,34:34:99:1|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:1519,1519,1519,104,104,0:167976249	12	0	2	1
chr6	167976297	167976297	G	0	exonic	HGC6.3	.	.	.	.	.	4	213	8	0	1	9	0.0184332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	597.91	88	chr6	167976297	.	G	A,*	597.91	.	AC=2,2;AF=0.053,0.053;AN=38;BaseQRankSum=0.024;DP=1081;ExcessHet=0.7148;FS=12.133;InbreedingCoeff=0.0153;MLEAC=2,2;MLEAF=0.053,0.053;MQ=54.37;MQRankSum=-2.210e-01;QD=3.36;ReadPosRankSum=1.13;SOR=1.385	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:31,0,0:31:52:.:.:0,52,956,52,956,956	15	0	2	2
chr6	167976300	167976300	G	A	exonic	HGC6.3	.	nonsynonymous SNV	HGC6.3:NM_001129895:exon1:c.C353T:p.A118V,	.	.	459	1006	40	3	14	60	0.0223518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0086	0.0041	0.0241	0.0088	0.0294	0.0098	0.0152	0.0028	0.0001153	3	26028	rs1453684562	0.0001	0.0008	9.497e-05	0.0001	0.0005	8.734e-05	8.111e-05	0.0003	0.0003	0	0.0004	0	0.0003	0.0009	0.0003	5.814e-05	0.0001	0.0005	0.0020	0.0089	0.0018	0.0022	0.0027	0.0017	0.0017	0.0018	0.0016	0.0022	0.0017	0.0018	0.0019	0.0021	0.0020	0	0.0018	0.0035	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.1	597.19	88	chr6	167976300	.	G	A,*	597.19	.	AC=2,2;AF=0.050,0.050;AN=40;BaseQRankSum=-4.180e-01;DP=1080;ExcessHet=0.7148;FS=12.133;InbreedingCoeff=0.0450;MLEAC=2,2;MLEAF=0.050,0.050;MQ=54.43;MQRankSum=-2.210e-01;QD=3.35;ReadPosRankSum=1.03;SOR=1.385	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:32,0,0:32:54:.:.:0,54,1015,54,1015,1015	16	0	2	1
chr6	167976300	167976300	G	0	exonic	HGC6.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	597.19	88	chr6	167976300	.	G	A,*	597.19	.	AC=2,2;AF=0.050,0.050;AN=40;BaseQRankSum=-4.180e-01;DP=1080;ExcessHet=0.7148;FS=12.133;InbreedingCoeff=0.0450;MLEAC=2,2;MLEAF=0.050,0.050;MQ=54.43;MQRankSum=-2.210e-01;QD=3.35;ReadPosRankSum=1.03;SOR=1.385	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:32,0,0:32:54:.:.:0,54,1015,54,1015,1015	16	0	2	1
chr6	167976307	167976307	G	A	exonic	HGC6.3	.	nonsynonymous SNV	HGC6.3:NM_001129895:exon1:c.C346T:p.P116S,	.	.	445	1037	25	1	14	41	0.012851	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0044	0.0018	0.0035	0.0022	0.0278	0.0059	0	0	0.0003622	56	154602	rs71573433	1.516e-05	0.0002	1.454e-05	1.583e-05	0.0003	8.79e-06	6.88e-06	7.2e-06	2.69e-06	0	0	0	0.0003	0.0003	0	5.095e-06	0	4.341e-05	0.0006	0.0041	0.0005	0.0008	0.0009	0.0005	0.0005	0.0006	0.0005	0.0004	0.0013	0.0009	0.0010	0.0009	0.0002	0	0.0008	0.0011	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	568.19	88	chr6	167976307	.	G	A,*	568.19	.	AC=2,2;AF=0.050,0.050;AN=40;BaseQRankSum=0.023;DP=1085;ExcessHet=0.7148;FS=7.899;InbreedingCoeff=0.0450;MLEAC=2,2;MLEAF=0.050,0.050;MQ=53.39;MQRankSum=-2.210e-01;QD=3.17;ReadPosRankSum=1.11;SOR=1.165	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:32,0,0:32:81:.:.:0,81,1215,81,1215,1215	16	0	2	1
chr6	167976307	167976307	G	0	exonic	HGC6.3	.	.	.	.	.	445	1037	25	1	14	41	0.012851	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	568.19	88	chr6	167976307	.	G	A,*	568.19	.	AC=2,2;AF=0.050,0.050;AN=40;BaseQRankSum=0.023;DP=1085;ExcessHet=0.7148;FS=7.899;InbreedingCoeff=0.0450;MLEAC=2,2;MLEAF=0.050,0.050;MQ=53.39;MQRankSum=-2.210e-01;QD=3.17;ReadPosRankSum=1.11;SOR=1.165	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:32,0,0:32:81:.:.:0,81,1215,81,1215,1215	16	0	2	1
chr6	167976329	167976329	T	0	exonic	HGC6.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	8324.06	88	chr6	167976329	.	T	G,*	8324.06	.	AC=9,1;AF=0.281,0.031;AN=32;BaseQRankSum=2.86;DP=1186;ExcessHet=0.0120;FS=13.202;InbreedingCoeff=0.2945;MLEAC=11,1;MLEAF=0.344,0.031;MQ=51.60;MQRankSum=0.844;QD=22.68;ReadPosRankSum=0.073;SOR=1.243	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,56,0:56:99:1|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:2399,168,0,2400,169,2400:167976249	9	3	3	5
chr6	167976539	167976539	T	0	exonic	HGC6.3	.	.	.	.	.	606	741	134	1	40	176	0.0840544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	846.58	47	chr6	167976539	.	T	G,*	846.58	.	AC=4,2;AF=0.200,0.100;AN=20;BaseQRankSum=0.039;DP=1478;ExcessHet=0.0018;FS=1.846;InbreedingCoeff=0.2202;MLEAC=6,2;MLEAF=0.300,0.100;MQ=54.59;MQRankSum=-4.254e+00;QD=4.73;ReadPosRankSum=1.28;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:96,0,0:96:0:.:.:0,0,0,0,0,0	6	1	2	11
chr6	167976540	167976540	T	0	exonic	HGC6.3	.	.	.	.	.	602	743	109	1	67	178	0.0695053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	759.27	105	chr6	167976540	.	T	*,A	759.27	.	AC=3,3;AF=0.150,0.150;AN=20;BaseQRankSum=0.168;DP=1478;ExcessHet=0.0018;FS=0.997;InbreedingCoeff=0.2202;MLEAC=3,5;MLEAF=0.150,0.250;MQ=54.68;MQRankSum=-2.539e+00;QD=2.18;ReadPosRankSum=-5.800e-01;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:96,0,0:96:0:.:.:0,0,0,0,0,0	6	1	0	11
chr6	167976591	167976591	-	AGGCAGTGGGGGTCATTCCCCCTGCAGTGTTGGGGGAGGAGAAGA	exonic	HGC6.3	.	nonframeshift insertion	HGC6.3:NM_001129895:exon1:c.61_62insTCTTCTCCTCCCCCAACACTGCAGGGGGAATGACCCCCACTGCCT:p.A20_S21insFFSSPNTAGGMTPTA,	.	.	421	1063	31	0	7	38	0.0143718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0	0	0.0026	3.84e-05	1	26028	rs766050036	0.0002	0.0004	0.0002	0.0003	0.0033	0.0002	0.0002	0.0027	0.0026	0	0	0	0	0.0029	0.0006	5.259e-05	6.702e-05	0.0033	0.0036	0.0087	0.0038	0.0033	0.0135	0.0033	0.0032	0.0101	0.0090	0.0041	0.0033	0.0017	0.0004	0	0.0018	0	0.0038	0.0052	0.0135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	507.78	83	chr6	167976591	.	G	GAGGCAGTGGGGGTCATTCCCCCTGCAGTGTTGGGGGAGGAGAAGA	507.78	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.626;DP=1319;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=56.83;MQRankSum=-1.920e+00;QD=11.81;ReadPosRankSum=-1.303e+00;SOR=0.620	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:84,0:84:60:.:.:0,60,900	19	0	1	1
chr6	168040072	168040072	G	C	exonic	KIF25	.	nonsynonymous SNV	KIF25:NM_005355:exon6:c.G502C:p.G168R	.	.	425	1095	1	0	1	2	0.000456413	.	.	2446196	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.6	T	0.08	B	0.03	B	0.019	N	1.000	N	-1.26	N	-0.84	T	-1.084	T	0.033	T	0.171	-0.040	3.808	-3.35	-0.720	-0.662	1.64	0.090	0.00730511354048	.	.	.	.	.	.	.	.	.	.	.	.	.	rs533395739	3.424e-06	3.42e-06	2.725e-06	4.131e-06	0.0002	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.7e-06	1.657e-05	0	6.57e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.495	0.07870	T	0.523	0.10354	T	0.08	0.24543	B	0.005	0.21741	B	0.018881	0.01498	N	2.405690	1	0.08975	N	-0.345	0.03330	N	-0.84	0.74265	T	0.77	0.02068	N	0.143	0.15328	-1.0844	0.06517	T	0.033	0.14029	T	10	0.08561221	0.14470	T	0.007305	0.19361	T	0.090	0.26093	0.307	0.27806	0.298403945805	0.29456	0.21205342566463076	0.21121	0.126926261757	0.14302	0.248839259148	0.03646	T	0.039395	0.25175	T	-0.168115	0.25519	T	-0.479262	0.24524	T	0.205677703022957	0.20726	T	0.327667	0.06803	T	0.10593595	0.25049	0.057272214	0.10380	0.10593595	0.25049	0.057272214	0.10380	-3.154	0.11927	T	.	.	0.105	0.33981	B	.;.;.;.	.;.;.;.	-0.488442	0.01904	0.158	0.54173170237429769	0.05085	0.01109	0.04059	N	AEFDBHCI	0.041296	0.06258	N	-1.49071392662515	0.01915	0.08404655	-1.49362128094679	0.02396	0.1101316	0.350474922411159	0.19677	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.09	-3.35	0.04620	-0.410000	0.07214	-5.265000	0.01784	-0.196000	0.09079	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4514:0.1562:0.2646:0.1278	1.64	0.02585	.	.	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	717.98	37	chr6	168040072	.	G	C	717.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.77;DP=776;ExcessHet=0.0000;FS=2.130;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=1.44;SOR=1.005	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1191	20	0	1	0
chr6	168042717	168042718	GT	-	splicing	KIF25	NM_030615:exon8:r.spl	.	.	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0004	0	8.669e-05	0	0	0	0	0.0034	0.0001921	5	26028	rs538746279	0.0003	0.0003	0.0002	0.0004	0.0046	0.0003	0.0002	0.0042	0.0041	0	2.249e-05	0	0	0	0	9.007e-07	0.0002	0.0046	0.0002	0.0002	7.71e-05	0.0003	0.0052	0.0001	9.697e-05	0.0036	0.0031	0	0	0	0	0	0	0	0	0	0.0052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1328.94	33	chr6	168042716	.	GGT	G	1328.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.266;DP=800;ExcessHet=0.0000;FS=4.677;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.26;ReadPosRankSum=0.409;SOR=1.302	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1286	20	0	1	0
chr6	168060794	168060794	G	A	exonic	FRMD1	.	nonsynonymous SNV	FRMD1:NM_001122841:exon9:c.C1105T:p.R369C	.	.	418	1096	8	0	0	8	0.00363636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.022	B	0.004	B	0.013	N	1.000	N	0.69	N	0.91	T	-1.057	T	0.023	T	0.069	0.296	5.604	-0.635	-0.350	-0.079	0.780	0.012	0.00326048903688	0.0019	0.000798722	0.0017	0.0002	0.0005	0	0.0002	0.0028	0.0012	0.0009	0.0017594	272	154602	rs138998311	0.0021	0.0021	0.0022	0.0019	0.0025	0.0020	0.0020	0.0024	0.0023	0.0004	0.0009	7.657e-05	5.045e-05	0.0002	0.0014	0.0025	0.0020	0.0009	0.0016	0.0016	0.0016	0.0015	0.0026	0.0014	0.0013	0.0022	0.0021	0.0004	0	0.0025	0	0	0.0002	0.0034	0.0026	0.0028	0	0.184	0.21634	T	0.139	0.33666	T	0.022	0.18677	B	0.002	0.10090	B	0.012743	0.01344	N	8.020120	0.999993	0.18198	N	1.1	0.28011	L	0.91	0.44856	T	-0.01	0.07155	N	0.073	0.06454	-1.0571	0.12491	T	0.023	0.09878	T	10	0.0038239658	0.00072	T	0.00326	0.07207	T	0.012	0.01476	.	.	0.252681307341	0.24864	0.1189813384029836	0.11825	0.137692390761	0.15523	0.184349939227	0.00141	T	0.003407	0.02809	T	-0.654641	0.00068	T	-0.716801	0.04951	T	0.00531881751882126	0.00058	T	0.49905	0.15685	T	0.048853654	0.08583	0.028177096	0.01030	0.048853654	0.08582	0.028177096	0.01030	-3.549	0.17125	T	.	.	0.073	0.08948	B	.;.;.;.;.	.;.;.;.;.	0.391025	0.07625	4.290	0.83489620814131571	0.14754	0.00941	0.03634	N	AEFDGBHCI	0.117494	0.23015	N	-1.60752478420655	0.01227	0.05337364	-1.66385750188734	0.01306	0.05891708	0.999999203270325	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.596394	0.31383	0	0.584449	0.35598	0	.	.	2.48	-0.635	0.10934	0.155000	0.16180	-0.055000	0.12496	-3.397000	0.00089	0.039000	0.20931	0.001000	0.17328	0.000000	0.00833	0.4347:0.1729:0.2181:0.1743	0.780	0.00973	988	0.01987	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	628.98	34	chr6	168060794	.	G	A	628.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.673;DP=798;ExcessHet=0.0000;FS=0.877;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.07;ReadPosRankSum=1.45;SOR=0.523	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1369	20	0	1	0
chr6	168063722	168063722	C	T	exonic	FRMD1	.	nonsynonymous SNV	FRMD1:NM_001122841:exon6:c.G479A:p.R160Q	.	.	396	1093	33	0	0	33	0.0148716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.53	P	0.06	B	0.144	N	1.000	D	0.805	L	-1.01	T	-1.031	T	0.107	T	0.147	0.061	4.333	-0.459	0.011	1.103	6.333	0.139	.	0.0066	0.00519169	0.0082	0.0016	0.0029	0.0003	0.0131	0.0085	0.0157	0.0166	0.008137	1258	154602	rs73028318	0.0096	0.0097	0.0095	0.0098	0.0148	0.0095	0.0095	0.0142	0.0139	0.0012	0.0032	0.0017	0.0002	0.0124	0.0069	0.0102	0.0095	0.0148	0.0071	0.0071	0.0070	0.0072	0.0147	0.0068	0.0066	0.0120	0.0110	0.0018	0.0088	0.0065	0.0014	0.0006	0.0131	0	0.0098	0.0090	0.0147	0.158	0.23997	T	0.374	0.17217	T	0.178	0.28960	B	0.037	0.23121	B	0.143925	0.18195	N	0.506221	1	0.81001	D	1.525	0.38595	L	-1.01	0.76168	T	-1.34	0.33998	N	0.274	0.31027	-1.0314	0.20002	T	0.107	0.39003	T	10	0.008030266	0.00182	T	.	.	.	0.139	0.37390	.	.	0.367992661779	0.36405	0.0659619330599379	0.06535	0.116831578632	0.13174	0.341306209564	0.16634	T	0.04755	0.27756	T	-0.406172	0.02108	T	-0.34389	0.39904	T	0.0152888524534329	0.00338	T	0.761424	0.38629	T	0.0438898	0.06921	0.06154453	0.11902	0.0438898	0.06921	0.06154453	0.11902	-6.369	0.49876	T	.	.	0.076	0.08512	B	.;.;.;.;.	.;.;.;.;.	1.384160	0.17959	13.47	0.7419690203460485	0.10606	0.16861	0.19582	N	AEFDBI	0.110399	0.21893	N	-1.28780946048917	0.03821	0.1713939	-1.33591555271807	0.03974	0.1865234	0.345152342474357	0.19624	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	2.83	-0.459	0.11571	1.272000	0.32712	-1.969000	0.04416	-1.468000	0.01074	0.888000	0.31154	0.000000	0.08366	0.005000	0.06747	0.0:0.2703:0.0:0.7297	6.333	0.20489	988	0.01987	FERM central domain|FERM domain|Band 4.1 domain|FERM central domain;FERM central domain|FERM domain|Band 4.1 domain|FERM central domain;FERM central domain|FERM domain|Band 4.1 domain|FERM central domain;.;FERM central domain|FERM domain|Band 4.1 domain|FERM central domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1224.98	33	chr6	168063722	.	C	T	1224.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.39;DP=830;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.50;ReadPosRankSum=1.92;SOR=0.668	GT:AD:DP:GQ:PL	0/1:77,52:129:99:1239,0,1678	20	0	1	0
chr6	168065011	168065011	C	T	exonic	FRMD1	.	nonsynonymous SNV	FRMD1:NM_001122841:exon5:c.G304A:p.V102M	.	.	415	1105	2	0	0	2	0.000904159	.	.	626160	not_specified	MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	U	1.000	D	2.71	M	1.27	T	-0.621	T	0.183	T	0.662	2.551	14.49	2.75	1.364	4.612	13.550	0.358	0.0144641483467	.	.	0.0002	0.0001	0.0004	0	0	0.0002	0	0.0004	0.0001746	27	154602	rs199740559	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	9.919e-05	0.0001	0.0001	8.962e-05	0.0002	0	0	1.949e-05	0.0005	0.0001	0.0002	0.0002	0.0001	0.0001	0.0001	0.0002	0.0002	8.662e-05	7.255e-05	0.0001	7.893e-05	7.236e-05	0	0.0001	0.0003	0	0	0	0.0002	0.0010	0	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000041	0.53742	U	0.000000	0.999849	0.81001	D	2.74	0.80084	M	1.27	0.36146	T	-2.72	0.60188	D	0.736	0.75374	-0.6205	0.63968	T	0.183	0.53179	T	10	0.73326445	0.74445	D	0.014464	0.34591	T	0.358	0.67872	0.779	0.90388	0.445910236696	0.44209	0.21516393053196156	0.21432	0.515842005414	0.49482	0.640192747116	0.58592	T	0.437864	0.78373	T	-0.162723	0.26342	T	-0.175325	0.56954	T	0.588488221168518	0.35947	D	0.976402	0.92190	D	0.4787942	0.65827	0.5127333	0.71843	0.4787942	0.65828	0.5127333	0.71844	-8.97	0.67903	D	.	.	0.487	0.68301	A	.;.;.;.;.	.;.;.;.;.	3.706595	0.52895	23.3	0.99721717771122664	0.82125	0.90899	0.52472	D	AEFDBI	0.775216	0.70870	D	0.262098971186279	0.54242	3.590075	0.0418547285266237	0.41679	2.508131	0.999999975370294	0.74766	0.514905	0.20481	0	0.547309	0.14657	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	2.75	2.75	0.31439	4.903000	0.62964	2.276000	0.31865	0.310000	0.19122	1.000000	0.71638	0.935000	0.28640	0.110000	0.18741	0.0:1.0:0.0:0.0	13.550	0.61189	988	0.01987	FERM central domain|FERM domain|Band 4.1 domain|FERM central domain;FERM central domain|FERM domain|Band 4.1 domain|FERM central domain;FERM central domain|FERM domain|Band 4.1 domain|FERM central domain;.;FERM central domain|FERM domain|Band 4.1 domain|FERM central domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	783.98	34	chr6	168065011	.	C	T	783.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.760e-01;DP=759;ExcessHet=0.0000;FS=0.954;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=0.372;SOR=0.880	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1203	20	0	1	0
chr6	168309048	168309048	C	T	exonic	DACT2	.	nonsynonymous SNV	DACT2:NM_001286350:exon3:c.G199A:p.A67T	.	.	416	1078	26	2	0	30	0.0137237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99	T	0.001	B	0.003	B	0.211	N	1.000	N	-0.28	N	0.99	T	-1.068	T	0.009	T	0.015	-0.071	3.654	-8.95	-3.503	-1.886	10.167	0.057	.	.	0.0359425	0.0368	0.0120	0.0041	0.0797	0	0.0052	0	0.0609	0.0052975	819	154602	rs117378794	0.0065	0.0063	0.0050	0.0081	0.0578	0.0064	0.0064	0.0557	0.0549	0.0084	0.0047	0.0134	0.0578	0.0008	0.0128	0.0011	0.0099	0.0555	0.0088	0.0088	0.0074	0.0101	0.0689	0.0084	0.0082	0.0630	0.0607	0.0098	0	0.0084	0.0150	0.0689	0.0008	0.0170	0.0012	0.0109	0.0554	0.865	0.02639	T	0.678	0.06511	T	0.001	0.07471	B	0.003	0.08700	B	0.211105	0.16363	N	0.591328	1	0.08975	N	0.405	0.12330	N	0.99	0.41750	T	-0.13	0.08971	N	0.008	0.00226	-1.0680	0.09858	T	0.009	0.03140	T	10	0.0016542077	0.00020	T	.	.	.	0.057	0.16321	.	.	.	.	0.08330383807268534	0.08264	.	.	0.281877875328	0.07755	T	0.046	0.27172	T	-0.768857	0.00013	T	-0.8213	0.01426	T	0.0032293885992605	0.00034	T	0.230077	0.03096	T	0.018826319	0.00406	0.037838276	0.03522	0.018826319	0.00406	0.037838276	0.03521	-3.996	0.23744	T	.	.	0.064	0.02861	B	.;.	.;.	-1.500865	0.00294	0.005	0.56459774746239022	0.05557	0.00364	0.01860	N	AEFDBI	.	.	.	-2.8841353411091	0.00002	8.615512e-05	-2.90599218866823	0.00002	0.0001131657	0.999999839553939	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.48	-8.95	0.00657	-1.789000	0.01857	-5.403000	0.01731	-4.052000	0.00045	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1208:0.3358:0.5434	10.167	0.42061	744	0.52588	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2302.98	34	chr6	168309048	.	C	T	2302.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.670e+00;DP=1101;ExcessHet=0.0000;FS=1.860;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.09;ReadPosRankSum=1.24;SOR=0.556	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1377	20	0	1	0
chr6	168309084	168309084	C	A	exonic	DACT2	.	nonsynonymous SNV	DACT2:NM_001286350:exon3:c.G163T:p.A55S	.	.	418	1098	6	0	0	6	0.0027248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.275	B	0.044	B	0.359	N	1.000	N	-0.405	N	0.93	T	-1.022	T	0.017	T	0.09	1.141	9.649	-0.849	0.114	0.148	5.265	0.042	.	.	0.00439297	0.0098	0	0	0	0	0	0	0.0199	0.0009767	151	154602	rs369564273	0.0010	0.0010	0.0006	0.0015	0.0173	0.0010	0.0010	0.0166	0.0163	0	5.694e-05	4.046e-05	0	0	0.0004	1.864e-06	0.0008	0.0173	0.0006	0.0006	0.0003	0.0009	0.0176	0.0005	0.0004	0.0146	0.0135	4.809e-05	0	0	0	0	0	0	0	0	0.0176	0.268	0.16144	T	0.42	0.35840	T	0.275	0.31898	B	0.044	0.24394	B	0.358958	0.04292	N	1.459890	1	0.08975	N	1.1	0.28011	L	0.93	0.44065	T	-0.31	0.12099	N	0.062	0.04188	-1.0220	0.23063	T	0.017	0.07140	T	10	0.0034857988	0.00062	T	.	.	.	0.042	0.11227	0.218	0.13932	0.0297737177859	0.01360	0.13618126405041434	0.13542	.	.	0.290269672871	0.08962	T	0.047023	0.27599	T	-0.634523	0.00090	T	-0.670599	0.07570	T	0.0100813937875837	0.00135	T	0.639636	0.27564	T	0.04924017	0.08713	0.04954314	0.07593	0.04924017	0.08713	0.04954314	0.07592	-3.475	0.20223	T	.	.	0.093	0.19478	B	.;.	.;.	1.211430	0.16047	12.28	0.90269805502209099	0.19539	0.15185	0.18786	N	AEFDBI	.	.	.	-0.989779431575013	0.08822	0.4150978	-1.02391737954167	0.09260	0.459693	0.956372199199118	0.28243	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.59	-0.849	0.10181	0.179000	0.16653	-0.273000	0.10332	0.599000	0.40250	0.005000	0.17040	0.000000	0.08366	0.065000	0.16320	0.0:0.2978:0.4111:0.2911	5.265	0.14906	744	0.52588	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2480.98	34	chr6	168309084	.	C	A	2480.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.276e+00;DP=1099;ExcessHet=0.0000;FS=1.700;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.10;ReadPosRankSum=1.64;SOR=0.682	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1377	20	0	1	0
chr6	168664103	168664103	A	G	exonic	SMOC2	.	nonsynonymous SNV	SMOC2:NM_001166412:exon12:c.A1315G:p.N439D	Dentin dysplasia, type I, with microdontia and misshapen teeth, Autosomal recessive	.	4	1504	13	1	0	15	0.00496196	.	.	710334	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.06	T	0.461	P	0.107	B	0.011	N	0.988	N	0.805	L	1.38	T	-1.060	T	0.021	T	0.184	1.578	11.23	2.39	0.557	0.985	5.465	0.019	.	0.0059	0.00219649	0.0054	0.0016	0.0024	0	0.0112	0.0076	0.0067	0.0019	0.0052845	817	154602	rs118133242	0.0058	0.0058	0.0057	0.0058	0.0061	0.0057	0.0056	0.0060	0.0060	0.0007	0.0031	0.0148	0	0.0107	0.0058	0.0061	0.0056	0.0016	0.0061	0.0061	0.0062	0.0060	0.0082	0.0058	0.0057	0.0076	0.0074	0.0011	0	0.0059	0.0181	0	0.0143	0.0068	0.0082	0.0080	0.0012	0.166	0.49613	T	0.042	0.50514	D	0.034	0.36363	B	0.025	0.31211	B	0.011281	0.29595	N	0.187332	0.988284	0.24427	N	0.895	0.22405	L	1.37	0.34253	T	-0.99	0.38734	N	0.342	0.41853	-1.0596	0.11855	T	0.021	0.08824	T	10	0.006231904	0.00140	T	.	.	.	0.019	0.03383	.	.	0.3691244813	0.36518	0.1196677143027038	0.11893	0.189727535353	0.21295	0.489148974419	0.37320	T	0.027255	0.19999	T	-0.539061	0.00339	T	-0.536713	0.18621	T	0.00268472858241418	0.00028	T	0.633837	0.28590	T	0.07335905	0.16386	0.08228509	0.18768	0.06620996	0.14223	0.08228509	0.18767	-3.199	0.12468	T	.	.	0.096	0.34470	B	.;.;.	.;.;.	1.529079	0.19621	14.36	0.99333313551211133	0.59856	0.10268	0.15821	N	AEFBI	0.082443	0.16692	N	-0.565855201786278	0.19989	1.050462	-0.552206593589895	0.20748	1.119227	7.69483742683958E-4	0.07776	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	3.56	2.39	0.28492	1.086000	0.30464	1.514000	0.27045	0.756000	0.94297	0.066000	0.21956	0.000000	0.08366	0.696000	0.34018	0.8689:0.0:0.1311:0.0	5.465	0.15932	994	0.00715	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	433.98	33	chr6	168664103	.	A	G	433.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.274e+00;DP=767;ExcessHet=0.0000;FS=1.037;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.61;ReadPosRankSum=-6.430e-01;SOR=0.963	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,883	20	0	1	0
chr6	169643735	169643735	A	C	exonic	WDR27	.	nonsynonymous SNV	WDR27:NM_001350623:exon12:c.T1136G:p.F379C	.	.	424	1077	20	1	0	22	0.0101103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.672	P	0.196	B	0.001	N	1.000	D	1.445	L	4.86	T	-1.103	T	0.048	T	0.767	0.254	5.375	4.0	0.789	3.432	11.176	0.223	.	0.0019	0.00199681	0.0033	0.0002	0.0007	0.0001	0.0003	0.0028	0.0058	0.0116	0.0029883	462	154602	rs201488884	0.0030	0.0030	0.0027	0.0033	0.0103	0.0029	0.0029	0.0097	0.0095	0.0003	0.0006	0.0049	2.519e-05	0.0004	0.0055	0.0028	0.0025	0.0103	0.0017	0.0017	0.0013	0.0021	0.0093	0.0015	0.0015	0.0072	0.0064	0.0002	0.0011	0.0005	0.0058	0	0.0004	0	0.0025	0.0024	0.0093	0.059	0.41915	T	0.026	0.55759	D	0.125	0.26866	B	0.054	0.25828	B	0.000722	0.42129	N	0.162064	0.962745	0.26053	N	.	.	.	0.88	0.46028	T	-5.47	0.85617	D	0.697	0.70175	-1.1034	0.03704	T	0.048	0.20632	T	10	0.0104136765	0.00232	T	.	.	.	0.223	0.52023	.	.	0.317084106153	0.31322	0.6679455183724466	0.66732	0.0347088691901	0.03653	0.491202026606	0.37605	T	.	.	.	-0.299942	0.08665	T	-0.195661	0.55057	T	0.024951494631161	0.01266	T	0.610439	0.23144	T	.	.	.	.	.	.	.	.	-10.066	0.74306	D	.	.	0.508	0.64961	A	.;.	.;.	2.575787	0.33383	19.32	0.63786348692542427	0.07317	0.80755	0.40312	D	AEFDGBI	0.219621	0.34448	N	-0.316615539543791	0.28517	1.573558	-0.296224608995896	0.28223	1.571886	0.337649845183437	0.19551	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.19	4.0	0.45673	3.009000	0.49239	6.112000	0.53677	0.688000	0.82842	0.998000	0.41325	0.999000	0.35428	0.057000	0.15750	0.8452:0.1548:0.0:0.0	11.176	0.47825	982	0.03397	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1730.11	33	chr6	169643735	.	A	C	1730.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.03;DP=799;ExcessHet=0.1072;FS=1.290;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=0.386;SOR=0.550	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1143	19	0	2	0
chr6	169662385	169662385	C	T	exonic	WDR27	.	nonsynonymous SNV	WDR27:NM_001350623:exon4:c.G371A:p.G124E	.	.	431	1083	8	0	0	8	0.00367985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.42	B	0.155	B	0.654	N	1.000	N	0.84	L	2.31	T	-1.001	T	0.008	T	0.251	-1.183	0.081	1.03	0.004	0.203	3.068	0.028	.	0.0004	0.00519169	0.0024	0	0	0.0251	0.0009	0.0006	0.0045	0.0016	0.0022121	342	154602	rs117912086	0.0010	0.0010	0.0010	0.0010	0.0226	0.0010	0.0010	0.0214	0.0209	0	2.236e-05	0.0002	0.0226	0.0011	0.0002	0.0002	0.0015	0.0022	0.0013	0.0013	0.0011	0.0016	0.0268	0.0012	0.0011	0.0232	0.0218	2.405e-05	0	6.534e-05	0.0003	0.0268	0.0008	0	0.0003	0.0009	0.0052	0.613	0.12469	T	0.434	0.13557	T	0.42	0.35330	B	0.155	0.34417	B	0.653589	0.05938	N	1.191300	1	0.08975	N	.	.	.	2.06	0.21666	T	-1.3	0.35194	N	0.22	0.24634	-1.0014	0.29516	T	0.008	0.02926	T	10	0.0034893453	0.00062	T	.	.	.	0.028	0.06331	.	.	0.0401082797425	0.02173	0.20662551734677995	0.20578	0.0247552032624	0.02524	0.240888267756	0.02870	T	.	.	.	-0.572011	0.00215	T	-0.574158	0.15070	T	0.00569031873800063	0.00062	T	0.577542	0.20782	T	.	.	.	.	.	.	.	.	-4.014	0.24013	T	.	.	0.092	0.13690	B	.;.;.	.;.;.	0.164172	0.05541	2.002	0.25811547206820651	0.01207	0.01587	0.05162	N	AEFDBI	0.029772	0.02872	N	-1.12437280839479	0.06212	0.2853535	-1.14874803440595	0.06790	0.3280572	0.326185893783615	0.19436	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.44	1.03	0.19161	-0.104000	0.10893	-0.243000	0.10574	-0.281000	0.06419	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.268:0.2322:0.4998	3.068	0.05845	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	985.98	35	chr6	169662385	.	C	T	985.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.85;DP=802;ExcessHet=0.0000;FS=1.639;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.57;ReadPosRankSum=-8.430e-01;SOR=0.800	GT:AD:DP:GQ:PL	0/1:64,39:103:99:1000,0,1593	20	0	1	0
chr6	169668011	169668011	T	G	exonic	WDR27	.	nonsynonymous SNV	WDR27:NM_182552:exon5:c.A631C:p.I211L,	.	.	442	1058	22	0	0	22	0.01029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.011	B	0.01	B	0.413	N	1.000	D	-0.17	N	0.25	T	-1.062	T	0.028	T	0.215	2.468	14.21	-3.24	-0.570	0.513	2.582	0.073	.	0.0050	0.00279553	0.0064	0.0006	0.0013	0.0001	0.0014	0.0081	0.0058	0.0117	0.006009	929	154602	rs41265387	0.0069	0.0069	0.0068	0.0071	0.0104	0.0068	0.0068	0.0099	0.0096	0.0009	0.0016	0.0094	5.038e-05	0.0017	0.0062	0.0076	0.0054	0.0104	0.0044	0.0044	0.0045	0.0044	0.0093	0.0041	0.0040	0.0072	0.0066	0.0010	0.0011	0.0018	0.0107	0	0.0010	0	0.0074	0.0033	0.0093	0.022	0.48642	D	0.003	0.76473	D	.	.	.	.	.	.	0.412623	0.12976	N	0.685094	0.999763	0.48888	D	.	.	.	0.25	0.59449	T	-1.59	0.38345	N	0.433	0.47208	-1.0617	0.11336	T	0.028	0.12014	T	10	0.010516435	0.00234	T	.	.	.	0.073	0.21317	.	.	0.0920862733494	0.08535	0.3853289265288596	0.38447	0.0216781632593	0.02158	0.496599763632	0.38354	T	.	.	.	-0.480738	0.00732	T	-0.453928	0.27263	T	0.0081475625995667	0.00097	T	0.471453	0.13989	T	.	.	.	.	.	.	.	.	-8.103	0.61771	D	.	.	0.254	0.48867	B	.	.	1.134433	0.15214	11.68	0.86944439522738426	0.16880	0.31738	0.24413	N	AEFDBI	0.084421	0.17110	N	-1.23283867193284	0.04531	0.2046774	-1.21622574625296	0.05648	0.269726	0.999285255501367	0.39007	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.25	-3.24	0.04779	0.125000	0.15577	-2.347000	0.03869	0.663000	0.56723	0.228000	0.24622	0.000000	0.08366	0.091000	0.17840	0.1234:0.3584:0.1275:0.3907	2.582	0.04527	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4512.11	38	chr6	169668011	.	T	G	4512.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.15;DP=1776;ExcessHet=0.1072;FS=2.106;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=0.716;SOR=0.804	GT:AD:DP:GQ:PL	0/0:128,0:128:99:0,120,1800	19	0	2	0
chr6	170561952	170561952	A	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	48	390	47	5	1032	1089	0.0681004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	942.0	42	chr6	170561952	.	A	*,G	942.0	.	AC=35,1;AF=0.833,0.024;AN=42;BaseQRankSum=0.00;DP=3619;ExcessHet=0.1217;FS=0.775;InbreedingCoeff=0.2222;MLEAC=35,1;MLEAF=0.833,0.024;MQ=60.00;MQRankSum=0.00;QD=0.75;ReadPosRankSum=1.62;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,65,0:66:99:1|1:170561949_GCAA_G:2509,158,0,2513,202,2556:170561949	1	15	4	0
chr6	170561959	170561961	CAG	-	exonic	TBP	.	nonframeshift deletion	TBP:NM_001172085:exon2:c.163_165del:p.Q75del	Spinocerebellar ataxia 17, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	590775	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	9.758e-05	0.0002	0	0.0004	0	0.0002	3.84e-05	1	26028	rs758734033	0.0057	0.0067	0.0062	0.0053	0.0068	0.0056	0.0056	0.0066	0.0066	0.0031	0.0033	0.0037	0.0019	0.0013	0.0032	0.0068	0.0052	0.0017	0.0040	0.0047	0.0041	0.0040	0.0051	0.0038	0.0037	0.0047	0.0045	0.0039	0	0.0029	0.0056	0.0026	0.0005	0.0037	0.0051	0.0040	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2984.38	127	chr6	170561958	.	ACAG	A,ACAGCAG,GCAG	2984.38	.	AC=1,1,1;AF=0.024,0.024,0.024;AN=42;BaseQRankSum=1.95;DP=3232;ExcessHet=0.3300;FS=4.506;InbreedingCoeff=-0.0769;MLEAC=1,1,1;MLEAF=0.024,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=9.10;ReadPosRankSum=2.46;SOR=0.951	GT:AD:DP:GQ:PL	0/0:168,0,0,0:168:99:0,120,1800,120,1800,1800,120,1800,1800,1800	18	0	1	0
chr6	170561961	170561961	-	CAG	exonic	TBP	.	nonframeshift insertion	TBP:NM_001172085:exon2:c.165_166insCAG:p.Q75_A76insQ	Spinocerebellar ataxia 17, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2984.38	127	chr6	170561958	.	ACAG	A,ACAGCAG,GCAG	2984.38	.	AC=1,1,1;AF=0.024,0.024,0.024;AN=42;BaseQRankSum=1.95;DP=3232;ExcessHet=0.3300;FS=4.506;InbreedingCoeff=-0.0769;MLEAC=1,1,1;MLEAF=0.024,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=9.10;ReadPosRankSum=2.46;SOR=0.951	GT:AD:DP:GQ:PL	0/0:168,0,0,0:168:99:0,120,1800,120,1800,1800,120,1800,1800,1800	18	0	1	0
chr6	170561961	170561961	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	128	893	348	41	112	542	0.194043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	20125.09	79	chr6	170561961	.	G	GCAA,*,A	20125.09	.	AC=13,1,1;AF=0.406,0.031,0.031;AN=32;BaseQRankSum=0.493;DP=3427;ExcessHet=8.1482;FS=0.000;InbreedingCoeff=-0.5184;MLEAC=15,1,1;MLEAF=0.469,0.031,0.031;MQ=59.97;MQRankSum=0.00;QD=15.10;ReadPosRankSum=0.905;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,58,0,0:118:99:0|1:170561949_GCAA_G:1748,0,2201,1737,2118,4837,1737,2118,4837,4837:170561949	2	1	11	5
chr6	170561964	170561964	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	68	560	433	93	368	987	0.355952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5526	18848.46	88	chr6	170561964	.	G	*,A	18848.46	.	AC=7,16;AF=0.184,0.421;AN=38;BaseQRankSum=-8.830e-01;DP=3263;ExcessHet=5.5923;FS=1.104;InbreedingCoeff=-0.3506;MLEAC=7,17;MLEAF=0.184,0.447;MQ=59.96;MQRankSum=0.00;QD=10.91;ReadPosRankSum=2.22;SOR=0.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,53,3:116:99:.:.:2029,0,2222,1959,1988,4005	1	1	3	2
chr6	170561967	170561967	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	46	879	60	4	533	601	0.0372399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	1014.59	36	chr6	170561967	.	G	*,A	1014.59	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=0.850;DP=1725;ExcessHet=0.5418;FS=3.273;InbreedingCoeff=0.0735;MLEAC=7,1;MLEAF=0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=2.63;SOR=0.490	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,31,0:108:99:0|1:170561963_AGC_A:1831,0,2933,1866,3246,5968:170561963	14	1	5	0
chr6	170584545	170584545	A	T	exonic	PDCD2	.	nonsynonymous SNV	PDCD2:NM_001199461:exon1:c.T37A:p.F13I	.	.	456	1065	1	0	0	1	0.000469263	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.000	D	1.000	D	2.78	M	1.28	T	-0.678	T	0.191	T	0.726	5.211	33	4.79	2.008	6.403	13.426	0.422	.	.	0.000798722	0.0027	0.0263	0	0	.	0.0045	0	0.0017	0.0002975	46	154602	rs548662103	0.0023	0.0020	0.0023	0.0022	0.0026	0.0022	0.0022	0.0025	0.0025	0.0004	0.0006	0.0004	0	0.0005	0.0003	0.0026	0.0015	0.0008	0.0015	0.0015	0.0016	0.0013	0.0027	0.0013	0.0013	0.0024	0.0023	0.0005	0	0.0003	0.0003	0	0.0006	0	0.0027	0.0009	0.0014	0.0	0.91255	D	0.004	0.76473	D	1.0	0.90584	D	0.996	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.12	0.87914	M	1.28	0.35960	T	-4.9	0.86372	D	0.618	0.70351	-0.6779	0.61469	T	0.191	0.54301	T	9	0.009214133	0.00208	T	.	.	.	0.422	0.73078	0.547	0.66156	0.665184242013	0.66237	0.8446486021725239	0.84425	4.31666214769	0.99941	0.928576469421	0.98905	D	0.620075	0.88079	D	-0.197015	0.21236	T	-0.0560556	0.66606	D	0.0981619453388029	0.12154	T	0.835216	0.53103	T	0.8969529	0.91112	0.8773408	0.93376	0.8969529	0.91114	0.8773408	0.93377	-12.015	0.84925	D	.	.	0.778	0.77227	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.350797	0.66821	25.0	0.99013305460965539	0.50420	0.94090	0.60082	D	ALL	0.495507	0.53084	N	0.667756338931557	0.77520	6.690941	0.58637365676453	0.73961	6.056967	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	4.79	4.79	0.60909	6.086000	0.71002	8.319000	0.76960	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.241000	0.23027	1.0:0.0:0.0:0.0	13.426	0.60475	889	0.27310	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	38.99	13	chr6	170584545	.	A	T	38.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.631;DP=400;ExcessHet=0.0000;FS=3.010;InbreedingCoeff=-0.0254;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.33;ReadPosRankSum=-5.490e-01;SOR=1.911	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,552	20	0	1	0
chr7	193399	193399	C	A	exonic	FAM20C	.	nonsynonymous SNV	FAM20C:NM_020223:exon1:c.C200A:p.P67H,	Raine syndrome, Autosomal recessive	.	8	1490	23	1	0	25	0.00831947	.	.	274985	FAM20C-related_disorder|not_provided|Inborn_genetic_diseases|not_specified	.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.838	P	0.339	B	0.476	U	1.000	N	1.445	L	-2.33	D	-0.347	T	0.505	D	0.27	1.315	10.31	2.87	1.931	1.202	9.426	0.195	.	.	0.00119808	0.0043	0	0.0122	0	0	0.0005	0	0.0057	0.0003687	57	154602	rs538469200	0.0009	0.0009	0.0008	0.0011	0.0062	0.0009	0.0009	0.0057	0.0055	0.0002	0.0007	0.0005	0	0	0.0055	0.0007	0.0013	0.0062	0.0006	0.0006	0.0005	0.0007	0.0060	0.0005	0.0005	0.0043	0.0037	2.417e-05	0	0.0002	0	0	0.0001	0	0.0008	0.0005	0.0060	0.003	0.68238	D	0.004	0.74150	D	0.838	0.46404	P	0.339	0.42346	B	0.475723	0.12224	U	0.629044	1	0.08975	N	.	.	.	-2.33	0.87910	D	-1.74	0.41239	N	0.077	0.05162	-0.3468	0.73646	T	0.505	0.81353	D	10	0.0064647794	0.00146	T	.	.	.	0.195	0.47612	.	.	0.184605227958	0.18053	0.5066125202444535	0.50583	1.01481861233	0.74903	0.86919093132	0.92453	D	0.006706	0.06137	T	-0.340585	0.05347	T	-0.259253	0.48899	T	0.0348755269498303	0.02787	T	0.408959	0.10549	T	0.18811204	0.40296	0.17135891	0.39312	0.18811204	0.40296	0.17135891	0.39312	-5.62	0.42975	T	.	.	0.104	0.18828	B	.	.	3.137205	0.42413	21.5	0.9853014225545792	0.42582	0.53231	0.29321	D	AEFDGBCI	0.081821	0.16561	N	-0.0941850455632063	0.37647	2.193307	-0.180500173733775	0.32254	1.833197	0.999999521622467	0.74766	0.65757	0.49021	0	0.547309	0.14657	0	0.619478	0.44681	0	0.375	0.06713	1	.	.	2.87	2.87	0.32523	-0.674000	0.05333	3.066000	0.36180	0.496000	0.22519	0.000000	0.06391	0.054000	0.21897	0.208000	0.22126	0.0:1.0:0.0:0.0	9.426	0.37744	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	383.98	20	chr7	193399	.	C	A	383.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.124;DP=710;ExcessHet=0.0000;FS=2.932;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.10;ReadPosRankSum=-1.200e-01;SOR=0.537	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1015	20	0	1	0
chr7	193659	193659	C	T	exonic	FAM20C	.	nonsynonymous SNV	FAM20C:NM_020223:exon1:c.C460T:p.P154S,	Raine syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.015	B	0.014	B	0.329	N	1.000	N	1.04	L	-2.14	D	-0.747	T	0.419	T	0.11	0.780	8.119	4.15	1.113	.	8.856	0.103	0.58502017528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.11957	T	0.814	0.03898	T	0.015	0.17086	B	0.014	0.16862	B	0.329427	0.14138	N	0.510906	1	0.08975	N	.	.	.	-2.14	0.86415	D	-1.28	0.32185	N	0.059	0.03069	-0.7470	0.58092	T	0.419	0.76476	T	10	0.096735716	0.17372	T	0.58502	0.96294	D	0.103	0.29403	0.327	0.31034	0.143184338766	0.13958	0.33149939877040635	0.33062	0.480749730577	0.47089	0.808349609375	0.83240	D	0.006876	0.06306	T	-0.116768	0.33653	T	-0.405505	0.32744	T	0.0791817605495453	0.09881	T	0.444056	0.12368	T	0.089118876	0.20811	0.10125384	0.24234	0.089118876	0.20811	0.10125384	0.24233	-4.367	0.29106	T	.	.	0.070	0.03552	B	.	.	1.206639	0.15994	12.24	0.90831334696941668	0.20080	0.12782	0.17476	N	AEFDBCI	0.085235	0.17277	N	-0.839622410800608	0.12305	0.5990356	-0.810607329392825	0.14239	0.7429573	0.999999675019534	0.74766	0.766844	0.99359	0	0.547309	0.14657	0	0.851219	0.99655	0	0.627883	0.49187	0	.	.	5.03	4.15	0.47978	0.034000	0.13663	0.950000	0.22916	0.501000	0.22741	0.000000	0.06391	0.002000	0.18203	0.015000	0.10482	0.0:0.8235:0.0:0.1765	8.856	0.34386	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	640.98	34	chr7	193659	.	C	T	640.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.129;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.93;ReadPosRankSum=-9.020e-01;SOR=0.680	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1015	20	0	1	0
chr7	195574	195574	G	A	exonic	FAM20C	.	nonsynonymous SNV	FAM20C:NM_020223:exon2:c.G626A:p.G209D,	Raine syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.0	B	0.0	B	0.108	N	0.610	D	-0.805	N	-0.95	T	-0.982	T	0.105	T	0.059	1.187	9.826	1.06	0.438	2.021	6.320	0.122	0.0129238680876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.57e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.644	0.04943	T	0.69	0.05920	T	0.0	0.02946	B	0.0	0.01387	B	0.107584	0.19564	N	0.430244	0.610269	0.32615	D	.	.	.	-0.95	0.75438	T	-0.13	0.08971	N	0.085	0.06190	-0.9818	0.34585	T	0.105	0.38538	T	10	0.059601933	0.07189	T	0.012924	0.31907	T	0.122	0.33800	0.478	0.55663	0.0675242888579	0.06100	0.30991744733054416	0.30904	0.623705127135	0.56599	0.41611301899	0.27302	T	0.001082	0.00603	T	-0.200719	0.20701	T	-0.526095	0.19678	T	0.0258748258798055	0.01388	T	0.444056	0.12368	T	0.020649498	0.00632	0.040977377	0.04553	0.020649498	0.00632	0.040977377	0.04553	-3.585	0.17640	T	.	.	0.060	0.00904	B	.	.	1.447843	0.18681	13.87	0.71047152299984806	0.09497	0.35276	0.25264	N	AEFDBCI	0.088521	0.17946	N	-0.970848464746253	0.09230	0.4359994	-0.860524090323982	0.13034	0.6739697	0.999990814939942	0.74766	0.706548	0.73137	0	0.547309	0.14657	0	0.26897	0.05253	2	0.714379	0.83352	0	.	.	4.81	1.06	0.19341	1.789000	0.38356	3.672000	0.39440	0.674000	0.70861	0.983000	0.35670	0.999000	0.35428	0.024000	0.12247	0.6069:0.0:0.3931:0.0	6.320	0.20419	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1093.98	36	chr7	195574	.	G	A	1093.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.637e+00;DP=792;ExcessHet=0.0000;FS=3.213;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=-2.760e-01;SOR=0.358	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1190	20	0	1	0
chr7	195594	195594	G	A	exonic	FAM20C	.	nonsynonymous SNV	FAM20C:NM_020223:exon2:c.G646A:p.G216R,	Raine syndrome, Autosomal recessive	.	0	1514	8	0	0	8	0.00263505	.	.	192514	not_provided|not_specified|FAM20C-related_disorder	MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.59	T	0.997	D	0.849	P	0.017	N	1.000	D	2.24	M	-0.98	T	-0.275	T	0.395	T	0.278	3.052	16.19	3.89	1.093	8.339	14.543	0.395	0.164127152415	0.0045	0.00339457	0.0047	0.0015	0.0049	0.0001	0.0009	0.0063	0.0080	0.0036	0.0045989	711	154602	rs61734970	0.0066	0.0066	0.0066	0.0066	0.0077	0.0065	0.0064	0.0075	0.0075	0.0012	0.0054	0.0006	0	0.0021	0.0021	0.0077	0.0068	0.0030	0.0050	0.0050	0.0051	0.0048	0.0075	0.0047	0.0045	0.0070	0.0067	0.0016	0.0176	0.0069	0.0003	0	0.0018	0	0.0075	0.0080	0.0043	0.198	0.20532	T	0.127	0.35082	T	0.997	0.70673	D	0.849	0.60615	P	0.017052	0.27821	N	0.285622	0.999971	0.53665	D	.	.	.	-0.98	0.75789	T	-3.25	0.65283	D	0.726	0.72746	-0.2745	0.75689	T	0.395	0.74764	T	10	0.010534644	0.00234	T	0.164127	0.84331	D	0.395	0.71004	0.451	0.51285	0.502820412485	0.49921	0.6607767860460201	0.66014	0.67202664392	0.59506	0.599855780602	0.52883	T	0.01284	0.11210	T	-0.312826	0.07501	T	-0.216438	0.53079	T	0.0495577196195617	0.05423	T	0.829517	0.49484	T	0.10354379	0.24474	0.14994851	0.35384	0.10354379	0.24474	0.14994851	0.35383	-5.667	0.43399	T	.	.	0.098	0.16451	B	.	.	5.457009	0.91119	32	0.99888620816608342	0.96281	0.93999	0.59809	D	AEFDBCI	0.902194	0.84979	D	0.338637900873239	0.58142	3.984861	0.249116664185057	0.52600	3.43373	0.999999999187743	0.74766	0.706548	0.73137	0	0.547309	0.14657	0	0.26897	0.05253	2	0.714379	0.83352	0	.	.	4.81	3.89	0.44098	8.682000	0.90955	9.745000	0.81450	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.099000	0.18236	0.0:0.148:0.852:0.0	14.543	0.67599	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1710.98	36	chr7	195594	.	G	A	1710.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.703;DP=876;ExcessHet=0.0000;FS=0.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.63;ReadPosRankSum=-2.535e+00;SOR=0.620	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1190	20	0	1	0
chr7	290724	290724	A	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.A179G:p.D60G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.63e-05	0.0011	6.045e-05	3.178e-05	0.0001	3.646e-05	3.338e-05	4.892e-05	3.359e-05	0.0001	0	0	0	0	0	4.873e-05	7.462e-05	3.043e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69150114	0.71883	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.847515	0.52873	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.529	0.65890	A	.	.	3.722634	0.53211	23.3	0.87352862521545771	0.17166	0.97287	0.73806	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999893991610557	0.45129	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.824066	0.49261	4.4	4.4	0.52402	8.347000	0.89966	9.080000	0.78714	0.555000	0.28237	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	13.617	0.61584	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	74.31	37	chr7	290724	.	A	G	74.31	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-1.580e+00;DP=650;ExcessHet=0.6776;FS=103.212;InbreedingCoeff=-0.1064;MLEAC=2;MLEAF=0.050;MQ=60.00;MQRankSum=0.00;QD=0.53;ReadPosRankSum=-8.760e-01;SOR=7.340	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:21,0:21:63:.:.:0,63,639	16	0	4	1
chr7	290725	290725	C	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.C180G:p.D60E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401769274	1.508e-05	0.0005	1.932e-05	1.072e-05	3.51e-05	9.85e-06	8.01e-06	1.156e-05	9.32e-06	3.51e-05	0	0	0	0	0	1.808e-05	0	0	6.573e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29690653	0.47254	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.909409	0.67928	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.48230	B	.	.	2.606792	0.33848	19.46	0.92665126009978027	0.22145	0.72915	0.35675	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999996798729429	0.74766	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.842344	0.50902	4.4	4.4	0.52402	1.910000	0.39557	1.324000	0.25623	0.445000	0.21165	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.969	0.86166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	1537.51	38	chr7	290725	.	C	G	1537.51	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.014;DP=729;ExcessHet=15.6281;FS=215.903;InbreedingCoeff=-0.5582;MLEAC=15;MLEAF=0.395;MQ=60.00;MQRankSum=0.00;QD=3.11;ReadPosRankSum=0.300;SOR=10.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:20,0:20:41:.:.:0,41,501	5	0	14	2
chr7	756962	756962	G	A	exonic	DNAAF5	.	nonsynonymous SNV	DNAAF5:NM_017802:exon6:c.G1438A:p.A480T,	Ciliary dyskinesia, primary, 18, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.84	T	0.926	P	0.653	P	0.002	N	1.000	N	1.545	L	-0.15	T	-0.862	T	0.135	T	0.272	2.853	15.50	3.52	1.326	3.092	6.565	0.137	0.025673446973	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411441157	1.376e-06	2.052e-06	1.369e-06	1.382e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.033	0.53072	D	0.879	0.48338	P	0.451	0.46123	P	0.002441	0.36537	N	0.238872	0.630557	0.30702	N	.	.	.	-0.15	0.65192	T	-1.69	0.40274	N	0.188	0.20528	-0.8616	0.51147	T	0.135	0.44875	T	10	0.22555548	0.39388	T	0.025673	0.48627	D	0.137	0.36984	0.347	0.34274	0.173771789658	0.16945	0.1262682262051053	0.12552	0.192663589833	0.21591	0.400944411755	0.25200	T	0.065882	0.32803	T	-0.0485394	0.44668	T	-0.3075	0.43926	T	0.771409511566162	0.44524	D	0.675632	0.28413	T	0.051227484	0.09377	0.08830591	0.20580	0.051227484	0.09376	0.08830591	0.20580	-3.172	0.12141	T	0.5050446018539776	0.57965	0.112	0.21840	B	.	.	2.502251	0.32303	19.00	0.99831982378415318	0.91370	0.94506	0.61385	D	AEFGBI	0.357012	0.44819	N	0.0443169374413865	0.43881	2.672525	0.0467609310266956	0.41914	2.526285	0.669940786210497	0.22364	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.49	3.52	0.39415	3.001000	0.49176	3.010000	0.35957	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.066000	0.16387	0.0953:0.0:0.5179:0.3869	6.565	0.21703	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2130.98	152	chr7	756962	.	G	A	2130.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.14;DP=922;ExcessHet=0.0000;FS=2.894;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.02;ReadPosRankSum=0.857;SOR=0.466	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	20	0	1	0
chr7	849955	849955	G	A	exonic	SUN1	.	nonsynonymous SNV	SUN1:NM_001367639:exon5:c.G124A:p.A42T	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.014	B	0.0	B	0.165	N	1.000	N	.	.	2.39	T	-1.024	T	0.038	T	0.218	-0.226	2.907	0.205	-0.125	2.438	2.870	0.049	.	0.0031	0.00239617	0.0067	0.0026	0.0040	0.0014	0.0102	0.0098	0.0035	0.0002	0.004269	660	154602	rs139112134	0.0058	0.0058	0.0061	0.0056	0.0067	0.0057	0.0057	0.0066	0.0065	0.0010	0.0036	0.0043	0.0010	0.0079	0.0036	0.0067	0.0048	0.0001	0.0045	0.0045	0.0046	0.0043	0.0069	0.0042	0.0041	0.0064	0.0062	0.0014	0.0022	0.0035	0.0046	0.0010	0.0066	0	0.0069	0.0047	0.0002	0.415	0.09989	T	1.0	0.01155	T	.	.	.	.	.	.	0.165342	0.17535	N	0.611839	1	0.08975	N	.	.	.	2.38	0.15843	T	0.49	0.02993	N	0.096	0.07673	-1.0237	0.22508	T	0.038	0.16246	T	9	0.0041094124	0.00081	T	.	.	.	0.049	0.13647	.	.	0.0934897674506	0.08844	.	.	.	.	.	.	.	0.004223	0.03630	T	-0.611477	0.00124	T	-0.64009	0.09662	T	0.00293807058632349	0.00031	T	0.572243	0.20426	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.03026	B	.	.	0.732342	0.11018	7.674	0.22521139099281964	0.00910	0.01335	0.04597	N	AEFDGBI	0.018718	0.00590	N	-0.594202727281414	0.19119	0.9981886	-0.693961004178352	0.17111	0.9083649	0.073035079738982	0.15621	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.44	0.205	0.14481	2.216000	0.42511	2.012000	0.30169	-0.283000	0.06393	0.600000	0.27747	0.001000	0.17328	0.001000	0.02609	0.5626:0.1264:0.0696:0.2414	2.870	0.05270	895	0.25842	SUN domain-containing protein 1, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2156.98	33	chr7	849955	.	G	A	2156.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.085e+00;DP=883;ExcessHet=0.0000;FS=2.823;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=0.785;SOR=0.497	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr7	851463	851463	G	T	exonic	SUN1	.	nonsynonymous SNV	SUN1:NM_001367708:exon5:c.G171T:p.W57C	.	.	428	1011	77	6	0	89	0.0421601	.	.	457959	Emery-Dreifuss_muscular_dystrophy|not_provided|SUN1-related_disorder	MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	1.83	L	1.86	T	-0.730	T	0.157	T	0.885	3.327	17.19	4.75	1.503	3.162	16.949	0.074	.	0.0054	0.00658946	0.0126	0.0022	0.0054	0.0002	0.0121	0.0115	0.0169	0.0308	0.007322	1132	154602	rs142011077	0.0073	0.0073	0.0066	0.0080	0.0299	0.0072	0.0072	0.0262	0.0248	0.0012	0.0030	0.0150	0	0.0070	0.0299	0.0063	0.0087	0.0239	0.0057	0.0057	0.0058	0.0057	0.0216	0.0054	0.0053	0.0182	0.0169	0.0019	0	0.0038	0.0121	0.0002	0.0071	0.0136	0.0072	0.0076	0.0216	0.001	0.91255	D	0.003	0.83351	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.86	0.35031	T	-7.59	0.96554	D	0.816	0.81162	-0.7304	0.58943	T	0.157	0.48959	T	10	0.006855428	0.00156	T	.	.	.	0.405	0.71791	.	.	0.305926609036	0.30200	0.680900715441045	0.68029	0.569697294809	0.53141	0.468354642391	0.34454	T	0.088523	0.38176	T	-0.108454	0.35024	T	0.0890224	0.76180	D	0.0260470040623291	0.01412	T	0.827917	0.49191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347	0.58674	A	.;.;.	.;.;.	3.456626	0.48158	22.6	0.98701385503502792	0.44910	0.96153	0.67775	D	AEFDBI	0.408353	0.48007	N	0.284013217608358	0.55338	3.69789	0.158639058105796	0.47602	2.987949	0.997544138123749	0.35740	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.63	4.75	0.59954	3.226000	0.50956	4.822000	0.45127	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:0.1279:0.8721:0.0	16.949	0.86110	889	0.27310	SUN domain-containing protein 1, N-terminal;.;SUN domain-containing protein 1, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1129.98	39	chr7	851463	.	G	T	1129.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.496e+00;DP=1139;ExcessHet=0.0000;FS=1.616;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.41;ReadPosRankSum=0.252;SOR=0.597	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1286	20	0	1	0
chr7	987514	987514	G	A	exonic	CYP2W1	.	nonsynonymous SNV	CYP2W1:NM_017781:exon7:c.G1126A:p.G376S,	.	.	413	1090	18	1	0	20	0.00909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.979	D	0.7	P	0.000	N	0.712	N	3.195	M	-1.0	T	-0.153	T	0.486	T	0.221	2.530	14.42	1.79	0.132	1.222	6.707	0.318	0.0686951798635	0.0009	0.000798722	0.0016	0.0019	0.0028	0	0	0.0025	0	0.0009	0.0004722	73	154602	rs201612311	0.0008	0.0008	0.0008	0.0008	0.0128	0.0008	0.0008	0.0104	0.0096	0.0002	0.0014	0.0017	5.589e-05	0	0.0128	0.0008	0.0012	0.0010	0.0008	0.0008	0.0009	0.0008	0.0024	0.0007	0.0007	0.0017	0.0015	0.0001	0	0.0024	0.0020	0.0002	0	0.0068	0.0010	0.0014	0.0004	0.014	0.59928	D	0.081	0.63109	T	0.936	0.59044	P	0.499	0.54153	P	0.000444	0.44317	N	0.258785	0.712226	0.30002	N	3.355	0.91145	M	-1.0	0.76037	T	-4.3	0.80682	D	0.189	0.21319	-0.1532	0.78837	T	0.486	0.80395	T	10	0.035232127	0.01763	T	0.068695	0.70522	D	0.318	0.64008	.	.	0.819972634414	0.81827	0.6808159409528889	0.68020	0.377217779885	0.39159	0.324691742659	0.14131	T	0.156394	0.49854	T	-0.352715	0.04559	T	-0.309506	0.43711	T	0.129212127138541	0.15309	T	0.653735	0.41012	T	0.31083548	0.53859	0.33287317	0.59131	0.31083548	0.53859	0.33287317	0.59130	-6.824	0.52737	T	.	.	0.090	0.16099	B	.;.;.	.;.;.	2.148121	0.27360	17.44	0.98972352430746946	0.49560	0.56362	0.30098	D	AEFDBHCI	0.166117	0.29267	N	-0.0160078048044343	0.41132	2.45481	-0.164251723813962	0.32864	1.873969	0.999999708435375	0.74766	0.580535	0.33130	0	0.514364	0.08380	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.62	1.79	0.23992	2.254000	0.42868	0.699000	0.20831	-0.703000	0.04025	0.980000	0.35271	0.114000	0.22828	0.008000	0.08271	0.1515:0.2728:0.5757:0.0	6.707	0.22443	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	517.98	34	chr7	987514	.	G	A	517.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.356;DP=768;ExcessHet=0.0000;FS=2.704;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=0.117;SOR=0.299	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr7	997651	997651	G	A	exonic	C7orf50	.	stopgain	C7orf50:NM_001134395:exon5:c.C559T:p.R187X	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.048	N	0.905	D	.	.	.	.	.	.	.	.	.	1.736	11.77	5.35	2.507	2.486	16.549	0.040	.	7.7e-05	.	1.038e-05	0	0	0	0	1.899e-05	0	0	6.5e-06	1	154602	rs372720975	8.584e-05	8.551e-05	9.292e-05	7.869e-05	0.0001	7.341e-05	6.842e-05	8.602e-05	8.079e-05	0	0	0	2.537e-05	0	0	0.0001	0.0001	2.329e-05	8.538e-05	8.536e-05	6.421e-05	0.0001	0.0002	4.955e-05	3.961e-05	0.0001	8.875e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.048423	0.23252	N	0.367616	0.905416	0.36275	D	.	.	.	.	.	.	.	.	.	0.182	0.20129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199398	0.73835	D	0.415088	0.92590	D	0.993962585926056	0.84996	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;Recessive;.;.	High;High;High;.;.	9.233046	0.98651	40	0.99573553567881035	0.72561	0.78250	0.38578	D	AEFDGBHCI	0.093199	0.18861	N	0.62684767401012	0.74877	6.208183	0.440905315651336	0.64134	4.66182	0.999999132368644	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	5.35	5.35	0.76297	2.669000	0.46490	7.289000	0.58048	0.676000	0.76740	0.990000	0.36992	1.000000	0.68203	0.386000	0.26469	0.0:0.0:1.0:0.0	16.549	0.84306	934	0.15400	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	682.98	33	chr7	997651	.	G	A	682.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=748;ExcessHet=0.0000;FS=2.430;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=-9.320e-01;SOR=1.110	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1151	20	0	1	0
chr7	1058297	1058297	C	T	exonic	GPR146	.	nonsynonymous SNV	GPR146:NM_001303473:exon2:c.C782T:p.S261L	.	.	428	1078	15	1	0	17	0.00782329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.021	B	0.004	B	0.956	N	1.000	N	0.55	N	-0.61	T	-1.028	T	0.124	T	0.425	-0.325	2.459	3.12	0.419	0.252	9.796	0.176	.	0.0018	0.00499201	0.0026	0.0017	0.0019	0	0.0002	0.0026	0.0022	0.0057	0.0024709	382	154602	rs61731818	0.0025	0.0024	0.0023	0.0026	0.0222	0.0024	0.0023	0.0185	0.0172	0.0014	0.0027	0.0195	2.773e-05	2.142e-05	0.0222	0.0013	0.0042	0.0041	0.0022	0.0022	0.0021	0.0022	0.0052	0.0020	0.0019	0.0036	0.0031	0.0015	0	0.0035	0.0216	0	0	0.0170	0.0014	0.0061	0.0052	0.545	0.06691	T	0.199	0.27679	T	0.021	0.18474	B	0.004	0.10090	B	0.955972	0.08256	N	0.974748	0.999986	0.18198	N	0.41	0.12415	N	-0.61	0.71779	T	-0.42	0.18042	N	0.042	0.01498	-1.0282	0.21038	T	0.124	0.42799	T	10	0.0032946467	0.00057	T	.	.	.	0.176	0.44373	.	.	0.427713192076	0.42389	0.12384076464715456	0.12310	0.0659189846376	0.07352	0.359224975109	0.19273	T	0.02272	0.17466	T	-0.399436	0.02335	T	-0.345586	0.39710	T	0.000862943776935603	0.00008	T	0.621638	0.23898	T	0.024727002	0.01333	0.03364915	0.02295	0.024727002	0.01333	0.03364915	0.02294	-0.804	0.00806	T	.	.	0.097	0.15788	B	.;.	.;.	0.824561	0.11960	8.519	0.54683460613266677	0.05187	0.11833	0.16891	N	AEFGBI	0.090223	0.18283	N	-1.08284032548822	0.06959	0.3218808	-1.04846480435655	0.08739	0.4311509	0.999645661480633	0.41316	0.67177	0.52595	0	0.702456	0.74545	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	5.11	3.12	0.34986	0.273000	0.18425	1.795000	0.28833	0.597000	0.34315	0.000000	0.06391	0.004000	0.18990	0.002000	0.04165	0.0:0.7761:0.0:0.2239	9.796	0.39901	912	0.21483	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2021.98	37	chr7	1058297	.	C	T	2021.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=1092;ExcessHet=0.0000;FS=0.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=0.512;SOR=0.757	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr7	1092847	1092847	T	G	exonic	GPER1	.	nonsynonymous SNV	GPER1:NM_001098201:exon2:c.T1119G:p.S373R	.	.	424	1092	6	0	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.007	B	0.003	B	.	.	0.536	N	0.55	N	-0.37	T	-0.999	T	0.108	T	0.145	1.001	9.089	-4.52	-1.228	-1.721	10.534	0.091	0.037833113855	0.0054	0.00139776	0.0041	0.0017	0.0007	0.0006	0.0037	0.0060	0.0059	0.0021	0.0038809	600	154602	rs138657567	0.0064	0.0064	0.0065	0.0063	0.0076	0.0063	0.0063	0.0075	0.0074	0.0011	0.0018	0.0033	0.0001	0.0034	0.0007	0.0076	0.0055	0.0022	0.0045	0.0046	0.0048	0.0043	0.0076	0.0043	0.0042	0.0071	0.0069	0.0015	0	0.0020	0.0035	0	0.0045	0	0.0076	0.0043	0.0021	0.002	0.72154	D	0.009	0.66756	D	0.007	0.14184	B	0.003	0.08700	B	.	.	.	.	0.535789	0.31453	N	0	0.06538	N	-0.37	0.68892	T	-1.21	0.30762	N	0.124	0.11626	-0.9991	0.30171	T	0.108	0.39075	T	9	0.004355788	0.00088	T	0.037833	0.57860	D	0.091	0.26358	0.332	0.31843	0.467329300633	0.46359	0.5271054720499917	0.52634	0.66616035281	0.59178	0.580799221992	0.50199	T	0.093243	0.39172	T	-0.509059	0.00508	T	-0.490378	0.23352	T	0.00395940100505138	0.00042	T	0.510449	0.16283	T	0.25246072	0.48262	0.14245135	0.33888	0.25246072	0.48262	0.14245135	0.33887	-6.134	0.47387	T	.	.	0.182	0.39511	B	.;.;.;.	.;.;.;.	-0.638211	0.01470	0.091	0.95671881300114092	0.27519	0.12565	0.17346	N	AEFGBCI	0.072513	0.14475	N	-1.35036913828797	0.03121	0.1389116	-1.41011299457103	0.03150	0.1463814	0.999999866678038	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.578056	0.29568	0	0.491896	0.07777	0	.	.	5.39	-4.52	0.03227	-2.149000	0.01377	-7.082000	0.01236	-0.722000	0.03793	0.000000	0.06391	0.000000	0.08366	0.055000	0.15596	0.1086:0.5388:0.0:0.3526	10.534	0.44185	906	0.23090	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1881.98	129	chr7	1092847	.	T	G	1881.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.000e-02;DP=2071;ExcessHet=0.0000;FS=3.876;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.80;ReadPosRankSum=-5.770e-01;SOR=1.027	GT:AD:DP:GQ:PL	0/1:73,74:147:99:1896,0,1885	20	0	1	0
chr7	1440649	1440649	C	T	exonic	MICALL2	.	nonsynonymous SNV	MICALL2:NM_182924:exon8:c.G1747A:p.G583R,	.	.	416	992	110	4	0	118	0.056137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.999	D	0.861	P	0.785	N	1.000	N	1.04	L	2.4	T	-0.868	T	0.228	T	0.362	0.720	7.833	2.22	0.298	0.162	4.792	0.085	.	0.0058	0.00958466	0.0111	0.0014	0.0042	0.0002	0.0012	0.0092	0.0235	0.0387	0.0103815	1605	154602	rs118132501	0.0097	0.0097	0.0085	0.0108	0.0387	0.0095	0.0095	0.0376	0.0372	0.0019	0.0045	0.0214	5.038e-05	0.0018	0.0317	0.0081	0.0106	0.0387	0.0069	0.0070	0.0062	0.0077	0.0391	0.0066	0.0065	0.0345	0.0327	0.0011	0.0647	0.0083	0.0231	0	0.0016	0.0034	0.0077	0.0085	0.0391	0.01	0.56456	D	0.289	0.21078	T	0.998	0.73220	D	0.629	0.51727	P	0.785298	0.09439	N	0.854456	1	0.08975	N	0.55	0.14455	N	-0.5	0.70480	T	-2.9	0.60827	D	0.274	0.31027	-0.8680	0.50679	T	0.228	0.59372	T	10	0.003394574	0.00059	T	.	.	.	0.085	0.24743	0.254	0.19378	.	.	0.17260096805414704	0.17180	0.0127105137452	0.01221	0.354136884212	0.18529	T	0.005327	0.04780	T	-0.389267	0.02720	T	-0.304068	0.44293	T	0.0421110538412396	0.04076	T	0.717028	0.32946	T	0.07449362	0.16722	0.08943037	0.20911	0.07449362	0.16722	0.08943037	0.20911	-4.714	0.33573	T	.	.	0.185	0.40048	B	.	.	1.897278	0.24095	16.27	0.71380055128778219	0.09609	0.04398	0.09982	N	AEFGBI	0.094525	0.19111	N	-0.45859534911735	0.23449	1.259348	-0.634506495118654	0.18609	0.9948502	0.314020614395515	0.19317	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.08	2.22	0.27116	0.800000	0.26703	1.295000	0.25437	0.597000	0.34315	0.000000	0.06391	0.007000	0.19602	0.040000	0.14268	0.0:0.6189:0.1779:0.2032	4.792	0.12621	940	0.13648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1954.68	34	chr7	1440649	.	C	T	1954.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.161;DP=865;ExcessHet=0.3300;FS=2.385;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=9.44;ReadPosRankSum=-9.000e-02;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1091	18	0	3	0
chr7	1448629	1448629	G	A	exonic	MICALL2	.	nonsynonymous SNV	MICALL2:NM_182924:exon3:c.C325T:p.R109C,	.	.	427	1071	23	1	0	25	0.0115367	.	.	699918	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.062	B	0.025	B	0.204	U	0.751	N	1.395	L	-0.64	T	-0.830	T	0.172	T	0.166	1.401	10.62	2.17	0.729	3.705	8.755	0.157	.	0.0071	0.00479233	0.0087	0.0018	0.0020	0.0005	0.0191	0.0114	0.0091	0.0070	0.0076066	1176	154602	rs149008569	0.0094	0.0094	0.0095	0.0092	0.0103	0.0092	0.0092	0.0102	0.0101	0.0010	0.0028	0.0003	0.0002	0.0182	0.0033	0.0103	0.0079	0.0070	0.0064	0.0064	0.0059	0.0070	0.0091	0.0061	0.0059	0.0085	0.0082	0.0016	0	0.0039	0	0	0.0171	0	0.0091	0.0066	0.0077	0.002	0.72154	D	0.053	0.47336	T	0.062	0.23277	B	0.025	0.20508	B	0.204195	0.16524	U	0.328359	0.750982	0.29638	N	1.1	0.28011	L	-0.64	0.72125	T	-5.89	0.88767	D	0.628	0.64223	-0.8300	0.53301	T	0.172	0.51325	T	10	0.0089377165	0.00202	T	.	.	.	0.157	0.40909	.	.	0.669649519912	0.66686	0.5963431761618546	0.59564	0.0151113110885	0.01436	0.60476732254	0.53578	T	0.028433	0.20599	T	-0.391391	0.02635	T	-0.325588	0.41959	T	0.0882496158479904	0.11008	T	0.859314	0.55085	D	0.27553666	0.50617	0.2612253	0.51897	0.32503945	0.55061	0.2612253	0.51896	-11.305	0.81304	D	.	.	0.410	0.60112	A	.	.	4.712043	0.75714	26.4	0.99152294465325619	0.53848	0.77618	0.38184	D	AEFBCI	0.336419	0.43454	N	-0.394207129253607	0.25674	1.395	-0.354555307800919	0.26369	1.456023	0.995439403190456	0.34125	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.756605	0.99741	0	.	.	4.19	2.17	0.26736	3.795000	0.55203	7.096000	0.57520	0.652000	0.53365	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:0.1438:0.5665:0.2897	8.755	0.33801	932	0.16191	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	962.98	45	chr7	1448629	.	G	A	962.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.47;DP=832;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.45;ReadPosRankSum=-6.320e-01;SOR=0.725	GT:AD:DP:GQ:PL	0/1:70,44:114:99:977,0,1609	20	0	1	0
chr7	1472318	1472318	T	C	exonic	INTS1	.	nonsynonymous SNV	INTS1:NM_001080453:exon44:c.A6139G:p.M2047V,	.	.	421	1095	6	0	0	6	0.00273224	.	.	1857986	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.41	T	0.0	B	0.0	B	0.000	N	0.975	N	0.92	L	0.96	T	-1.036	T	0.066	T	0.38	0.004	4.037	2.53	0.249	3.307	8.792	0.168	0.00908245319689	0.0004	.	0.0011	0	0.0031	0	0	0.0023	0	0.0001	0.0002846	44	154602	rs199728337	0.0003	0.0003	0.0003	0.0003	0.0023	0.0003	0.0003	0.0014	0.0011	3.07e-05	0.0008	0.0003	0	2.048e-05	0.0023	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	9.653e-05	0	6.541e-05	0.0003	0	0	0	0.0005	0.0005	0.0002	0.356	0.23997	T	0.184	0.29056	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.84330	N	0.081304	0.975375	0.25437	N	1.545	0.39105	L	0.96	0.42888	T	-0.88	0.49352	N	0.288	0.32591	-1.0364	0.18419	T	0.066	0.27156	T	10	0.015866369	0.00333	T	0.009082	0.23893	T	0.168	0.42943	.	.	0.177238962908	0.17366	0.5357272688488487	0.53497	.	.	0.345334082842	0.17232	T	0.13399	0.46498	T	-0.402555	0.02228	T	-0.43028	0.29903	T	0.0068017316017316	0.00077	T	0.785321	0.42297	T	0.15881054	0.35708	0.120991476	0.29195	0.15881054	0.35708	0.120991476	0.29195	-1.834	0.02613	T	.	.	0.103	0.27313	B	.;.	.;.	1.257851	0.16555	12.61	0.50267604248621045	0.04354	0.81891	0.41207	D	AEFDBCI	0.319303	0.42274	N	-0.590322177338371	0.19237	1.005265	-0.500152409005489	0.22149	1.201671	0.443404504912089	0.20472	0.706548	0.73137	0	0.697927	0.68747	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.96	2.53	0.29594	3.299000	0.51533	0.854000	0.22166	0.663000	0.56723	1.000000	0.71638	0.660000	0.26011	0.297000	0.24428	0.0:0.1603:0.0:0.8397	8.792	0.34014	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	842.98	36	chr7	1472318	.	T	C	842.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.010e-01;DP=772;ExcessHet=0.0000;FS=1.926;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=-1.496e+00;SOR=0.567	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr7	1485450	1485450	G	A	exonic	INTS1	.	nonsynonymous SNV	INTS1:NM_001080453:exon23:c.C2996T:p.S999L,	.	.	400	1119	3	0	0	3	0.00133869	.	.	2336125	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.8	P	0.107	B	0.006	N	0.604	N	1.59	L	0.82	T	-0.753	T	0.112	T	0.291	1.500	10.96	5.01	2.334	3.960	18.334	0.084	0.041381654173	8e-05	.	8.666e-05	0	0	0	0	9.472e-05	0.0012	0.0002	6.47e-05	10	154602	rs372589403	6.575e-05	6.567e-05	5.179e-05	7.985e-05	0.0016	5.501e-05	5.113e-05	0.0008	0.0006	2.987e-05	0	0	2.519e-05	0	0.0016	4.767e-05	0.0002	0.0003	4.6e-05	4.597e-05	5.14e-05	4.034e-05	7.239e-05	2.109e-05	1.527e-05	1.972e-05	1.125e-05	7.239e-05	0	0	0	0	0	0	5.881e-05	0	0	0.033	0.44358	D	0.015	0.61642	D	0.135	0.27304	B	0.047	0.24832	B	0.005925	0.32398	N	0.265929	0.604008	0.30917	N	2.08	0.57402	M	0.82	0.48142	T	-2.74	0.58248	D	0.409	0.44952	-0.7533	0.57763	T	0.112	0.40145	T	10	0.25078282	0.42409	T	0.041382	0.59899	D	0.084	0.24469	.	.	0.454426139905	0.45068	0.298771364830425	0.29790	.	.	0.579743027687	0.50050	T	0.268225	0.64033	T	-0.318685	0.07006	T	-0.416111	0.31522	T	0.0523477108051921	0.05908	T	0.961304	0.85476	D	0.14207484	0.32711	0.1615772	0.37576	0.14207484	0.32711	0.1615772	0.37575	-7.735	0.59251	D	.	.	0.126	0.26638	B	.	.	4.176611	0.62841	24.5	0.97921739256859286	0.36893	0.93823	0.59293	D	AEFGBCI	0.394357	0.47164	N	-0.0354333674138677	0.40256	2.387547	0.000743418689224479	0.39750	2.361692	0.993292688445879	0.33159	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	4.058000	0.57176	9.686000	0.81259	0.670000	0.69193	1.000000	0.71638	1.000000	0.68203	0.473000	0.28408	0.0:0.0:1.0:0.0	18.334	0.90222	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1201.98	35	chr7	1485450	.	G	A	1201.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=788;ExcessHet=0.0000;FS=0.757;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=-1.400e-02;SOR=0.736	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1231	20	0	1	0
chr7	1936767	1936767	C	T	exonic	MAD1L1	.	nonsynonymous SNV	MAD1L1:NM_001304525:exon2:c.G95A:p.R32H	Lymphoma, somatic (3);Prostate cancer, somatic	.	0	1514	8	0	0	8	0.00263505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.086	B	0.027	B	0.002	N	1.000	N	1.32	L	1.88	T	-1.094	T	0.037	T	0.041	0.521	6.826	-4.92	-1.755	-0.308	6.795	0.035	0.00974158001716	0.0004	.	0.0016	0	0	0	0	0.0026	0	0.0012	0.0005498	85	154602	rs201154265	0.0011	0.0011	0.0011	0.0012	0.0018	0.0011	0.0011	0.0012	0.0012	0.0001	7.808e-05	0.0010	5.347e-05	0.0002	0.0018	0.0013	0.0009	0.0015	0.0006	0.0006	0.0006	0.0005	0.0010	0.0005	0.0004	0.0008	0.0007	0.0001	0	6.532e-05	0.0009	0	9.409e-05	0	0.0010	0.0019	0.0010	0.16	0.28395	T	0.117	0.39492	T	0.028	0.19712	B	0.014	0.16862	B	0.001842	0.37840	N	0.283615	1	0.08975	N	0.81	0.20779	L	1.88	0.23884	T	-2.39	0.56630	N	0.149	0.19055	-1.0943	0.04854	T	0.037	0.16160	T	10	0.013055682	0.00278	T	0.009742	0.25427	T	0.035	0.08770	.	.	0.202949470691	0.19918	0.1748863263074709	0.17407	0.142616884564	0.16085	0.494232356548	0.38026	T	0.396544	0.75514	T	-0.672914	0.00053	T	-0.752601	0.03386	T	0.0073815817526415	0.00085	T	0.667933	0.27701	T	0.07151845	0.15840	0.10127591	0.24239	0.096358486	0.22694	0.09634044	0.22887	-4.601	0.37844	T	.	.	0.066	0.04198	B	.;.;.;.;.;.	.;.;.;.;.;.	0.011208	0.04358	1.118	0.96024781848136276	0.28486	0.04808	0.10529	N	AEFDGBCI	0.059712	0.11298	N	-1.47780404249584	0.02007	0.08819427	-1.58392639126945	0.01753	0.07975893	0.999999104900415	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.562822	0.20929	0	.	.	4.77	-4.92	0.02848	-0.163000	0.09986	-4.350000	0.02203	-1.577000	0.00925	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.1172:0.3464:0.0:0.5364	6.795	0.22905	894	0.26265	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	389.98	34	chr7	1936767	.	C	T	389.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.100e-02;DP=756;ExcessHet=0.0000;FS=1.309;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.00;ReadPosRankSum=-4.860e-01;SOR=0.402	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1085	20	0	1	0
chr7	2377047	2377047	C	G	exonic	EIF3B	.	nonsynonymous SNV	EIF3B:NM_001037283:exon15:c.C2126G:p.P709R	.	.	413	1104	5	0	0	5	0.00225938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.914	P	0.729	P	0.000	D	1.000	D	2.545	M	1.79	T	-0.910	T	0.105	T	0.539	2.232	13.42	4.93	1.442	7.665	16.209	0.199	0.0219290478898	0.0050	0.00119808	0.0034	0.0009	0.0016	0	0.0022	0.0055	0.0056	0	0.0035058	542	154602	rs149974474	0.0046	0.0046	0.0048	0.0045	0.0056	0.0045	0.0045	0.0054	0.0054	0.0007	0.0020	0.0055	0	0.0025	0.0023	0.0056	0.0030	0.0001	0.0032	0.0032	0.0032	0.0031	0.0049	0.0030	0.0029	0.0044	0.0043	0.0009	0.0307	0.0019	0.0075	0	0.0024	0	0.0049	0.0028	0.0006	0.101	0.30375	T	0.167	0.30729	T	0.914	0.50529	P	0.729	0.55225	P	0.000004	0.62929	D	0.143003	0.999996	0.58761	D	2.03	0.55503	M	1.79	0.25509	T	-6.18	0.90294	D	0.607	0.63289	-0.9097	0.46891	T	0.105	0.38489	T	10	0.011627585	0.00253	T	0.021929	0.44763	T	0.199	0.48268	.	.	0.371749281113	0.36790	0.6444476579918422	0.64379	1.43814035219	0.85921	0.650924503803	0.60116	T	0.260175	0.63152	T	-0.370941	0.03546	T	-0.301882	0.44525	T	0.0599170411308836	0.07155	T	0.893211	0.63049	D	0.63074386	0.74338	0.39705384	0.64330	0.63074386	0.74339	0.39705384	0.64330	-11.405	0.81832	D	.	.	0.367	0.58416	A	.;.	.;.	4.272739	0.65018	24.8	0.98627420103404573	0.43866	0.97843	0.77545	D	AEFDGBCI	0.922874	0.89849	D	0.557627273835395	0.70549	5.517668	0.508455264083214	0.68558	5.236634	0.999999999392023	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.82	4.93	0.64394	7.752000	0.84018	7.622000	0.62351	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.1342:0.8658:0.0:0.0	16.209	0.81966	895	0.25842	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1621.98	33	chr7	2377047	.	C	G	1621.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.82;DP=787;ExcessHet=0.0000;FS=4.155;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.26;ReadPosRankSum=0.138;SOR=1.194	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1187	20	0	1	0
chr7	2433544	2433544	A	G	exonic	CHST12	.	nonsynonymous SNV	CHST12:NM_001243794:exon2:c.A905G:p.N302S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.555	P	0.257	B	0.032	N	0.945	D	0.55	N	-0.7	T	-0.770	T	0.199	T	0.137	1.367	10.50	2.79	0.293	6.034	12.066	0.223	0.0497355940649	.	.	8.441e-06	0	0	0	0	1.546e-05	0	0	6.5e-06	1	154602	rs762671753	3.422e-06	3.42e-06	1.362e-06	5.503e-06	2.987e-05	1e-06	7.3e-07	3.85e-06	1.44e-06	2.987e-05	2.236e-05	0	0	0	0	8.993e-07	0	2.319e-05	1.97e-05	1.968e-05	0	4.029e-05	0.0006	5.24e-06	2.45e-06	0.0002	9e-05	0	0	0	0	0	0	0	0	0	0.0006	0.034	0.44029	D	0.262	0.22895	T	0.555	0.38231	P	0.257	0.39298	B	0.032405	0.25034	N	0.464535	0.945164	0.37477	D	1.545	0.39105	L	-0.7	0.72785	T	-0.56	0.17003	N	0.322	0.36254	-0.7700	0.56857	T	0.199	0.55442	T	10	0.39059737	0.54862	T	0.049736	0.63941	D	0.223	0.52023	.	.	0.845319651303	0.84384	0.3361421240162627	0.33527	0.819006976666	0.67072	0.374660789967	0.21498	T	0.125658	0.45152	T	-0.0877484	0.38446	T	-0.363821	0.37610	T	0.366735100746155	0.27670	T	0.909809	0.68064	D	0.09962344	0.23513	0.12919663	0.31068	0.09962344	0.23513	0.12919663	0.31067	-6.557	0.50724	T	.	.	0.081	0.08176	B	.;.	.;.	2.403895	0.30884	18.57	0.96593337203908769	0.30380	0.98948	0.89031	D	AEFDGBI	0.775130	0.70863	D	-0.0275798436064903	0.40608	2.414575	0.0722869696665631	0.43162	2.623615	0.998140153734552	0.36487	0.706548	0.73137	0	0.724815	0.89359	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	5.27	2.79	0.31792	6.023000	0.70499	5.218000	0.47990	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.7268:0.2732:0.0:0.0	12.066	0.52886	873	0.30802	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2038.98	34	chr7	2433544	.	A	G	2038.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.27;DP=907;ExcessHet=0.0000;FS=2.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=0.709;SOR=0.521	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1250	20	0	1	0
chr7	2513251	2513251	-	GATG	exonic	LFNG	.	frameshift insertion	LFNG:NM_001166355:exon2:c.142_143insGATG:p.E56Gfs*2,	.	.	6	688	570	158	100	986	0.391689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	18008.05	36	chr7	2513247	.	AGATG	AGATGGATG,A	18008.05	.	AC=8,2;AF=0.190,0.048;AN=42;BaseQRankSum=1.07;DP=1568;ExcessHet=1.5138;FS=0.554;InbreedingCoeff=-0.0500;MLEAC=8,2;MLEAF=0.190,0.048;MQ=60.00;MQRankSum=0.00;QD=23.54;ReadPosRankSum=-8.200e-02;SOR=0.731	GT:AD:DP:GQ:PL	0/0:40,0,0:40:99:0,111,1665,111,1665,1665	12	0	7	0
chr7	2539634	2539634	G	A	exonic	BRAT1	.	nonsynonymous SNV	BRAT1:NM_001350627:exon11:c.C982T:p.P328S	Rigidity and multifocal seizure syndrome, lethal neonatal, Autosomal recessive	.	1	1503	17	1	0	19	0.00628099	.	.	457691	BRAT1-related_disorder|Intellectual_disability|not_provided|Neonatal-onset_encephalopathy_with_rigidity_and_seizures	.|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MedGen:C3661900|MONDO:MONDO:0013784,MedGen:C3281029,OMIM:614498,Orphanet:435845	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.23	T	0.015	B	0.028	B	0.022	N	0.686	D	0.975	L	-0.6	T	-0.720	T	0.216	T	0.163	0.117	4.630	3.77	0.696	1.179	11.594	0.161	0.0832906642386	0.0006	0.000199681	0.0025	0.0002	0.0007	0	0	0.0024	0.0029	0.0052	0.0008603	133	154602	rs147745609	0.0010	0.0010	0.0009	0.0011	0.0059	0.0009	0.0009	0.0044	0.0038	0.0002	0.0004	0.0002	0	0.0002	0.0059	0.0009	0.0011	0.0029	0.0008	0.0008	0.0008	0.0008	0.0012	0.0006	0.0006	0.0010	0.0009	0.0001	0.0208	0.0003	0	0	0	0	0.0012	0.0014	0.0010	0.126	0.27194	T	0.366	0.16668	T	0.015	0.17086	B	0.028	0.21332	B	0.022169	0.26687	N	0.423407	0.685727	0.33277	D	1.995	0.54099	M	-0.6	0.71662	T	-3.6	0.69357	D	0.143	0.14338	-0.7195	0.59488	T	0.216	0.57771	T	10	0.008923501	0.00202	T	0.083291	0.74084	D	0.161	0.41658	.	.	0.358340041657	0.35441	0.18110774917316644	0.18029	0.0753024738117	0.08442	0.291468322277	0.09136	T	0.039983	0.25376	T	-0.403943	0.02181	T	-0.356377	0.38471	T	0.0190647891020398	0.00614	T	0.607039	0.22875	T	0.13266473	0.30883	0.20127085	0.44099	0.13266473	0.30882	0.20127085	0.44098	-4.405	0.29625	T	0.3383179608557051	0.43616	0.105	0.19438	B	.	.	2.941962	0.39120	20.9	0.77245230693310662	0.11796	0.72430	0.35452	D	AEFDGBHCI	0.105349	0.21052	N	-0.587227285456106	0.19332	1.010912	-0.523497015758999	0.21515	1.164	0.999999202710495	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.59	3.77	0.42499	1.238000	0.32310	1.993000	0.30087	0.672000	0.70159	0.999000	0.42656	1.000000	0.68203	0.927000	0.46353	0.0677:0.3456:0.5866:0.0	11.594	0.50218	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	363.98	35	chr7	2539634	.	G	A	363.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.530;DP=756;ExcessHet=0.0000;FS=4.863;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.58;ReadPosRankSum=-3.880e-01;SOR=1.438	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1452	20	0	1	0
chr7	2542173	2542173	A	C	exonic	BRAT1	.	nonsynonymous SNV	BRAT1:NM_001350627:exon6:c.T437G:p.L146R	Rigidity and multifocal seizure syndrome, lethal neonatal, Autosomal recessive	YES	0	1491	30	1	0	32	0.0106171	.	.	363971	not_provided|Neonatal-onset_encephalopathy_with_rigidity_and_seizures|BRAT1-related_disorder|Neurodevelopmental_disorder_with_cerebellar_atrophy_and_with_or_without_seizures	MedGen:C3661900|MONDO:MONDO:0013784,MedGen:C3281029,OMIM:614498,Orphanet:435845|.|MONDO:MONDO:0020841,MedGen:C4748032,OMIM:618056	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	2.19	M	-0.87	T	0.084	D	0.472	T	0.888	3.939	20.1	5.42	2.058	5.474	14.012	0.799	.	0.0048	0.00339457	0.0103	0.0007	0.0094	0	0.0166	0.0155	0.0045	0.0080	0.0036675	567	154602	rs150942467	0.0086	0.0085	0.0086	0.0086	0.0096	0.0084	0.0084	0.0095	0.0094	0.0010	0.0039	0.0037	0	0.0086	0.0077	0.0096	0.0070	0.0062	0.0066	0.0066	0.0069	0.0063	0.0093	0.0062	0.0061	0.0087	0.0085	0.0016	0.0318	0.0077	0.0032	0	0.0106	0.0103	0.0093	0.0057	0.0037	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.495	0.72670	M	-0.87	0.74583	T	-4.3	0.76496	D	0.924	0.92784	0.084	0.83888	D	0.472	0.79695	T	10	0.020496815	0.00473	T	.	.	.	0.799	0.93425	.	.	0.779192970331	0.77716	0.8486993657309405	0.84830	0.354304652269	0.37210	0.496233224869	0.38303	T	0.137523	0.47051	T	-0.00844316	0.50484	T	0.221493	0.84252	D	0.0193440535127068	0.00639	T	0.782722	0.41876	T	0.79226124	0.83415	0.7237451	0.83684	0.79226124	0.83416	0.7237451	0.83685	-10.099	0.74502	D	0.8584731998218259	0.92261	0.351	0.56664	A	.	.	4.518106	0.70818	25.6	0.99772560332094673	0.86003	0.95447	0.64757	D	AEFGBCI	0.563647	0.57076	D	0.654033638201833	0.76632	6.522163	0.608210816914051	0.75533	6.327763	0.997020771789545	0.35208	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.42	5.42	0.78666	2.391000	0.44078	11.059000	0.85411	0.751000	0.87719	0.963000	0.33788	1.000000	0.68203	0.788000	0.37229	1.0:0.0:0.0:0.0	14.012	0.64019	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2434.98	34	chr7	2542173	.	A	C	2434.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=932;ExcessHet=0.0000;FS=3.417;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=-2.578e+00;SOR=0.974	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr7	2543630	2543630	C	T	exonic	BRAT1	.	nonsynonymous SNV	BRAT1:NM_001350627:exon4:c.G238A:p.A80T	Rigidity and multifocal seizure syndrome, lethal neonatal, Autosomal recessive	.	0	1520	1	1	0	3	0.000985869	.	.	561538	not_provided|Neonatal-onset_encephalopathy_with_rigidity_and_seizures	MedGen:CN517202|MONDO:MONDO:0013784,MedGen:C3281029,OMIM:614498,Orphanet:435845	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.975	D	0.234	B	0.001	N	0.998	N	2.19	M	-2.73	D	-0.160	T	0.618	D	0.321	1.124	9.582	3.92	0.760	0.512	12.191	0.331	0.178525869879	0.0002	.	7.585e-05	0	0	0.0001	0	0.0001	0	0	9.06e-05	14	154602	rs149503475	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0002	0.0002	3.174e-05	2.735e-05	0	5.224e-05	0	0	0.0002	0.0001	1.332e-05	0.0001	0.0001	0.0002	9.415e-05	0.0002	8.169e-05	6.725e-05	0.0001	0.0001	4.825e-05	0	6.541e-05	0	0.0002	0	0	0.0002	0	0	0.159	0.23813	T	0.421	0.14075	T	0.975	0.58077	D	0.234	0.38393	B	0.001362	0.39242	N	0.291462	0.998198	0.22299	N	2.1	0.58353	M	-2.73	0.90679	D	-1.19	0.30346	N	0.31	0.34981	-0.1601	0.78668	T	0.618	0.86526	D	10	0.17944443	0.33079	T	0.178526	0.85362	D	0.331	0.65325	.	.	0.801641172427	0.79978	0.13821516321443816	0.13745	0.0566205886456	0.06256	0.448053598404	0.31678	T	0.00557	0.05022	T	-0.154565	0.27601	T	-0.204752	0.54195	T	0.050225732685094	0.05539	T	0.727427	0.34191	T	0.039516944	0.05469	0.07503676	0.16476	0.039516944	0.05469	0.07503676	0.16476	-3.924	0.22662	T	0.3969909773553774	0.48938	0.122	0.25592	B	.	.	1.255168	0.16525	12.59	0.98396296422234775	0.41020	0.16500	0.19418	N	AEFDGBCI	0.056276	0.10389	N	-0.296243763135989	0.29293	1.623187	-0.422651378114572	0.24334	1.331952	0.997271251342092	0.35446	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.71	3.92	0.44525	0.439000	0.21293	2.549000	0.33255	0.599000	0.40250	0.006000	0.17386	0.990000	0.31317	0.019000	0.11356	0.0:0.8982:0.0:0.1018	12.191	0.53582	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1304.98	35	chr7	2543630	.	C	T	1304.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=944;ExcessHet=0.0000;FS=0.733;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=-1.020e-01;SOR=0.802	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,120,1800	20	0	1	0
chr7	2598541	2598541	G	A	exonic	IQCE	.	nonsynonymous SNV	IQCE:NM_001287501:exon15:c.G1322A:p.G441E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.999	D	0.913	D	0.091	N	1.000	N	1.1	L	2.74	T	-1.048	T	0.077	T	0.215	1.535	11.08	1.07	0.214	-0.060	2.278	0.042	0.0371812640299	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1201786953	1.371e-06	1.368e-06	0	2.756e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.68238	D	0.029	0.92824	D	0.693	0.77913	P	0.203	0.64886	B	0.091472	0.20324	N	0.466636	1	0.08975	N	1.79	0.46772	L	2.73	0.28002	T	-1.9	0.55339	N	0.257	0.29544	-1.0484	0.14846	T	0.077	0.30951	T	10	0.08312151	0.13792	T	0.037181	0.57455	D	0.042	0.11227	0.16	0.06396	0.342168650903	0.33825	0.07968241405573132	0.07903	0.368860950545	0.38427	0.381146490574	0.22419	T	0.018072	0.38858	T	-0.22407	0.17442	T	-0.559637	0.16410	T	0.15935792028904	0.17824	T	0.757524	0.38090	T	0.0997592	0.23548	0.09972242	0.23820	0.0997592	0.23547	0.09972242	0.23819	-3.147	0.12262	T	.	.	0.102	0.39237	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.117968	0.15034	11.53	0.92335090854096968	0.21733	0.06743	0.12765	N	AEFDBI	0.056573	0.10468	N	-0.713654448041255	0.15637	0.7898234	-0.846072463019593	0.13382	0.6939015	0.237988382164322	0.18539	0.700653	0.57754	0	0.653731	0.59785	0	0.717052	0.78885	0	0.635551	0.53088	0	.	.	3.92	1.07	0.19399	-0.012000	0.12637	-0.407000	0.09372	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1123:0.246:0.4624:0.1793	2.278	0.03855	912	0.21483	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	433.98	34	chr7	2598541	.	G	A	433.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=746;ExcessHet=0.0000;FS=1.179;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.04;ReadPosRankSum=-1.455e+00;SOR=0.954	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1025	20	0	1	0
chr7	2709814	2709814	C	T	exonic	AMZ1	.	stopgain	AMZ1:NM_001321766:exon6:c.C946T:p.Q316X	.	.	.	.	.	.	.	.	.	0.0271	0.352	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.275	B	0.055	B	.	.	1.000	D	.	.	1.15	T	-1.023	T	0.081	T	.	5.971	36	3.71	0.724	1.401	11.196	0.034	.	.	.	1.83e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs775205874	3.426e-06	3.42e-06	1.364e-06	5.509e-06	4.644e-05	1e-06	7.3e-07	1.584e-05	9.31e-06	0	0	0	2.52e-05	0	0	0	0	4.644e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.292	0.20877	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.15	0.38236	T	-0.35	0.12847	N	0.537	0.56489	-1.0229	0.22769	T	0.081	0.31854	T	8	0.2897116	0.46552	T	.	.	.	0.034	0.08419	0.261	0.20473	0.369682402691	0.36581	.	.	.	.	.	.	.	.	.	.	-0.146231	0.28905	T	-0.244228	0.50385	T	0.957056760787964	0.64912	D	0.349965	0.07784	T	.	.	.	.	.	.	.	.	-4.322	0.28484	T	.	.	0.093	0.14062	B	.	.	10.879386	0.99867	50	0.99187657225019477	0.54877	0.78945	0.39030	D	ALL	0.798790	0.72524	D	0.288042686315133	0.55541	3.718219	0.113581543119421	0.45243	2.790894	0.999999999999998	0.74766	0.648878	0.45929	0	0.374146	0.05931	1	0.298653	0.05632	1	0.636	0.56748	0	.	.	4.86	3.71	0.41733	1.419000	0.34400	4.502000	0.43614	-0.233000	0.07663	1.000000	0.71638	1.000000	0.68203	0.892000	0.42986	0.6933:0.3067:0.0:0.0	11.196	0.47939	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	509.98	25	chr7	2709814	.	C	T	509.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.915e+00;DP=684;ExcessHet=0.0000;FS=5.301;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.17;ReadPosRankSum=0.835;SOR=0.206	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1468	20	0	1	0
chr7	2814361	2814361	C	T	exonic	GNA12	.	nonsynonymous SNV	GNA12:NM_001282441:exon2:c.G83A:p.R28Q,	.	.	431	1056	34	1	0	36	0.0167598	.	.	2828235	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.039	B	0.002	B	.	.	1.000	N	.	.	-2.08	D	-0.518	T	0.367	T	0.044	1.655	11.49	2.12	1.477	-0.994	7.776	0.169	.	0.0059	0.00239617	0.0064	0.0016	0.0032	0	0.0015	0.0097	0.0162	0.0030	0.0064423	996	154602	rs151253462	0.0079	0.0080	0.0080	0.0078	0.0254	0.0078	0.0078	0.0221	0.0208	0.0019	0.0042	0.0103	7.562e-05	0.0009	0.0254	0.0091	0.0083	0.0031	0.0059	0.0059	0.0061	0.0058	0.0096	0.0056	0.0055	0.0090	0.0087	0.0016	0	0.0062	0.0092	0.0002	0.0010	0.0442	0.0096	0.0090	0.0037	0.008	0.58626	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.19781	N	.	.	.	-2.08	0.86010	D	1.22	0.01051	N	0.123	0.11483	-0.5180	0.67989	T	0.367	0.72712	T	8	0.004283428	0.00086	T	.	.	.	0.169	0.43123	.	.	0.472011534587	0.46827	.	.	.	.	.	.	.	.	.	.	-0.500656	0.00567	T	-0.47961	0.24487	T	0.00296320149154326	0.00031	T	0.350365	0.07800	T	.	.	.	.	.	.	.	.	-4.401	0.29571	T	.	.	0.104	0.18746	B	.	.	0.980151	0.13573	10.10	0.99304735825804491	0.58759	0.01677	0.05358	N	AEFDBIJ	0.025508	0.01757	N	-0.793627732173815	0.13475	0.6640948	-0.892724837559142	0.12265	0.6299404	0.999991911856854	0.74766	0.475973	0.10046	0	0.601575	0.49859	0	0.527494	0.11647	0	0.714379	0.83352	0	.	.	2.12	2.12	0.26372	-0.109000	0.10810	-0.377000	0.09567	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:1.0:0.0:0.0	7.776	0.28201	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	548.98	33	chr7	2814361	.	C	T	548.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.028e+00;DP=746;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=-1.521e+00;SOR=0.720	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1246	20	0	1	0
chr7	2918553	2918553	G	C	exonic	CARD11	.	nonsynonymous SNV	CARD11:NM_032415:exon19:c.C2545G:p.L849V	B-cell expansion with NFKB and T-cell anergy, Autosomal dominant;Immunodeficiency 11, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.976	D	0.776	P	0.008	N	1.000	D	0.975	L	1.32	T	-1.070	T	0.099	T	0.305	2.087	12.94	2.98	1.021	0.636	8.569	0.048	0.0292663108982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.148e-07	6.84e-07	1.411e-06	0	9.268e-07	0	0	.	.	0	0	0	0	0	0	9.268e-07	0	0	6.569e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.025	0.47320	D	0.197	0.27855	T	0.976	0.58310	D	0.776	0.57120	P	0.007877	0.31148	N	0.222231	0.99982	0.49512	D	2.35	0.67516	M	1.32	0.35219	T	-1.18	0.30140	N	0.534	0.56231	-1.0701	0.09391	T	0.099	0.37034	T	10	0.58246607	0.65926	D	0.029266	0.51808	D	0.048	0.13305	0.315	0.29096	0.577696335319	0.57439	0.6533731887268218	0.65273	1.18416231744	0.80090	0.675966084003	0.63691	T	0.213112	0.57433	T	-0.146233	0.28905	T	-0.44783	0.27938	T	0.801709711551666	0.46469	D	0.889511	0.62170	D	0.0480404	0.08311	0.06332079	0.12527	0.0480404	0.08310	0.06332079	0.12527	-4.337	0.28692	T	0.5900971613216432	0.65689	0.205	0.43130	B	.	.	3.414694	0.47383	22.4	0.99431787219335543	0.64325	0.83083	0.42231	D	AEFDGBCI	0.325992	0.42741	N	0.0691197073087332	0.45027	2.766194	0.0225521317786779	0.40763	2.438048	0.543217370451919	0.21270	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.81	2.98	0.33575	0.676000	0.24927	2.455000	0.32829	0.618000	0.50648	0.944000	0.32806	0.997000	0.33255	0.587000	0.31065	0.1777:0.0:0.8223:0.0	8.569	0.32717	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	599.98	33	chr7	2918553	.	G	C	599.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.358e+00;DP=730;ExcessHet=0.0000;FS=2.488;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-1.280e-01;SOR=0.998	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1249	20	0	1	0
chr7	3951025	3951025	C	T	exonic	SDK1	.	nonsynonymous SNV	SDK1:NM_152744:exon6:c.C950T:p.A317V,	.	.	434	1071	16	1	0	18	0.00833333	.	.	700050	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.31	T	1.0	D	0.999	D	0.000	D	1.000	D	1.97	M	3.99	T	-0.656	T	0.195	T	0.606	4.313	22.6	5.51	2.574	3.654	14.109	0.082	.	0.0085	0.0125799	0.0078	0.0216	0.0023	0.0006	0.0003	0.0023	0.0066	0.0320	0.0071991	1113	154602	rs34775958	0.0050	0.0050	0.0043	0.0056	0.0329	0.0049	0.0048	0.0319	0.0315	0.0231	0.0028	0.0002	0.0004	0.0007	0.0038	0.0028	0.0060	0.0329	0.0096	0.0096	0.0095	0.0097	0.0364	0.0092	0.0090	0.0320	0.0303	0.0230	0.0066	0.0050	0.0003	0.0010	0.0008	0	0.0031	0.0123	0.0364	0.042	0.41637	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000003	0.62929	D	0.000000	0.999956	0.52396	D	1.33	0.33268	L	3.99	0.03268	T	-3.3	0.65858	D	0.678	0.72120	-0.6564	0.62434	T	0.195	0.54826	T	10	0.00770694	0.00175	T	.	.	.	0.196	0.47777	.	.	0.255777322467	0.25185	0.6759865631059169	0.67536	0.209868010446	0.23458	0.511128723621	0.40381	T	0.174289	0.52346	T	-0.432515	0.01432	T	-0.36968	0.36927	T	0.0140382206372918	0.00272	T	0.951205	0.81406	D	0.33527955	0.55901	0.2910117	0.55125	0.33527955	0.55901	0.2910117	0.55124	-6.288	0.48627	T	.	.	0.282	0.58310	B	.;.;.	.;.;.	3.901854	0.56841	23.8	0.99934987773288686	0.99579	0.95430	0.64689	D	AEFDGBI	0.473567	0.51820	N	0.395774751339719	0.61191	4.317093	0.462141489088575	0.65502	4.831709	0.999999591343745	0.74766	0.638212	0.43195	0	0.657636	0.61667	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.51	5.51	0.81769	3.768000	0.55005	7.424000	0.58739	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.885000	0.42453	0.0:0.8501:0.1499:0.0	14.109	0.64638	927	0.17636	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1034.98	33	chr7	3951025	.	C	T	1034.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.880e-01;DP=824;ExcessHet=0.0000;FS=8.855;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.48;ReadPosRankSum=-1.229e+00;SOR=1.438	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1388	20	0	1	0
chr7	3951786	3951786	-	CCT	exonic	SDK1	.	nonframeshift insertion	SDK1:NM_152744:exon7:c.1016_1017insCCT:p.L340_H341insL,	.	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.00119808	0.0014	0.0002	0.0009	0	0.0006	0.0016	0.0011	0.0024	0.0002305	6	26028	rs557107791	0.0009	0.0009	0.0009	0.0010	0.0049	0.0009	0.0009	0.0034	0.0030	0.0001	0.0008	0.0018	0	0.0003	0.0049	0.0008	0.0018	0.0022	0.0007	0.0007	0.0006	0.0008	0.0027	0.0006	0.0006	0.0016	0.0013	0.0002	0.0044	0.0005	0.0009	0	0.0003	0	0.0010	0.0005	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2016.94	34	chr7	3951786	.	G	GCCT	2016.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.040e-01;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.05;ReadPosRankSum=-7.510e-01;SOR=0.647	GT:AD:DP:GQ:PL	0/1:79,55:134:99:2031,0,3152	20	0	1	0
chr7	3951870	3951870	C	T	exonic	SDK1	.	nonsynonymous SNV	SDK1:NM_152744:exon7:c.C1100T:p.P367L,	.	.	436	1069	16	1	0	18	0.00834879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.001	B	0.001	B	0.211	N	1.000	N	0.715	N	1.65	T	-1.017	T	0.047	T	0.402	2.072	12.88	-2.27	-0.947	-0.548	3.507	0.002	.	0.0022	0.00878594	0.0063	0.0008	0.0017	0.0007	0.0003	0.0025	0.0045	0.0335	0.0058602	906	154602	rs117824452	0.0048	0.0048	0.0040	0.0056	0.0349	0.0047	0.0047	0.0338	0.0334	0.0006	0.0015	0.0002	0.0004	0.0009	0.0043	0.0032	0.0049	0.0349	0.0032	0.0032	0.0025	0.0040	0.0387	0.0030	0.0029	0.0342	0.0324	0.0006	0.0066	0.0016	0.0003	0.0010	0.0008	0	0.0033	0.0043	0.0387	0.065	0.36310	T	0.089	0.40426	T	0.001	0.07471	B	0.001	0.04355	B	0.211193	0.16362	N	0.558200	1	0.08975	N	0.4	0.12274	N	1.65	0.27650	T	-0.06	0.07882	N	0.171	0.19055	-1.0166	0.24819	T	0.047	0.20235	T	10	0.0033321679	0.00058	T	.	.	.	0.037	0.09474	.	.	0.289098819767	0.28531	0.3866514553656123	0.38580	0.0699051351792	0.07831	0.273677051067	0.06626	T	0.029542	0.21146	T	-0.565598	0.00235	T	-0.559457	0.16428	T	0.00317257925574289	0.00033	T	0.0912909	0.00675	T	0.031342827	0.02956	0.031073846	0.01645	0.031342827	0.02955	0.031073846	0.01645	-4.137	0.25833	T	.	.	0.077	0.12465	B	.;.;.	.;.;.	0.375352	0.07474	4.114	0.84874161139894855	0.15549	0.02063	0.06153	N	AEFDBI	0.024184	0.01458	N	-1.40793052906374	0.02568	0.1135956	-1.5274725724055	0.02135	0.09773313	0.984601035554813	0.30745	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.87	-2.27	0.06458	-0.435000	0.07000	-1.666000	0.04955	-0.696000	0.04083	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2262:0.2884:0.3911:0.0942	3.507	0.07254	927	0.17636	Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	717.98	34	chr7	3951870	.	C	T	717.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.96;DP=767;ExcessHet=0.0000;FS=0.917;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=1.15;SOR=0.910	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr7	4145895	4145895	G	A	exonic	SDK1	.	nonsynonymous SNV	SDK1:NM_152744:exon29:c.G4402A:p.V1468I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.928	P	0.596	P	0.000	D	1.000	D	0.975	L	0.6	T	-0.776	T	0.175	T	0.433	4.161	21.5	4.96	2.296	9.287	17.217	0.206	0.0457165802063	.	.	.	.	.	.	.	.	.	.	.	.	.	rs910136081	6.264e-05	6.43e-05	6.987e-05	5.534e-05	7.856e-05	5.193e-05	4.81e-05	6.424e-05	6.02e-05	0	2.296e-05	0	5.131e-05	0	0	7.856e-05	1.667e-05	0	2.02e-05	1.987e-05	2.626e-05	1.382e-05	2.993e-05	5.37e-06	2.49e-06	4.97e-06	1.86e-06	0	0	0	0	0	9.566e-05	0	2.993e-05	0	0	0.0	0.91255	D	0.058	0.46406	T	0.532	0.51611	P	0.076	0.50617	B	0.000011	0.62929	D	0.000000	0.999994	0.58761	D	0.705	0.18577	N	0.6	0.53731	T	-0.97	0.25770	N	0.758	0.77413	-0.7759	0.56531	T	0.175	0.51864	T	10	0.58609253	0.66119	D	0.045717	0.62114	D	0.206	0.49396	0.25	0.18757	0.451407941134	0.44763	0.377245756200966	0.37639	0.260186088043	0.28586	0.556953191757	0.46837	T	0.098544	0.40247	T	-0.162423	0.26388	T	-0.245384	0.50271	T	0.84048193693161	0.49367	D	0.950805	0.81197	D	0.3782728	0.59191	0.3448563	0.60177	0.3782728	0.59192	0.3448563	0.60176	-4.776	0.34310	T	.	.	0.161	0.35477	B	.;.;.	.;.;.	4.525166	0.70989	25.6	0.99840109633155272	0.92057	0.99042	0.90377	D	AEFDGBI	0.879201	0.80499	D	0.343435904743714	0.58394	4.011331	0.418668392286744	0.62726	4.493233	0.999999999948466	0.74766	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.567892	0.33627	0	.	.	4.96	4.96	0.65153	9.468000	0.96835	9.666000	0.81207	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.795000	0.37519	0.0:0.0:1.0:0.0	17.217	0.86829	952	0.10565	Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	974.98	36	chr7	4145895	.	G	A	974.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.15;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.93;ReadPosRankSum=-1.805e+00;SOR=0.798	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1039	20	0	1	0
chr7	4762342	4762342	G	A	exonic	FOXK1	.	nonsynonymous SNV	FOXK1:NM_001037165:exon9:c.G2080A:p.A694T,	.	.	430	1084	8	0	0	8	0.00367647	.	.	2828256	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.19	T	0.82	P	0.152	B	0.122	N	1.000	N	0.69	N	-3.56	D	-0.203	T	0.544	D	0.212	1.510	11.00	2.73	1.095	0.354	9.131	0.213	.	0.0052	0.00299521	0.0066	0.0004	0.0088	0	0.0234	0.0149	0.0102	0.0003	0.0027296	422	154602	rs15715	0.0057	0.0056	0.0059	0.0056	0.0058	0.0056	0.0056	0.0057	0.0057	0.0004	0.0057	0.0264	5.595e-05	0.0088	0.0057	0.0058	0.0063	0.0005	0.0050	0.0050	0.0053	0.0048	0.0061	0.0047	0.0046	0.0056	0.0054	0.0011	0.0471	0.0051	0.0311	0	0.0052	0.0102	0.0061	0.0080	0.0002	0.006	0.61437	D	0.571	0.08777	T	0.814	0.45487	P	0.084	0.29270	B	0.121788	0.18981	N	0.384537	0.999996	0.08975	N	1.39	0.34934	L	-3.83	0.95794	D	-0.8	0.22078	N	0.081	0.05670	-0.2027	0.77601	T	0.544	0.83242	D	10	0.0023437142	0.00034	T	.	.	.	0.213	0.50496	.	.	0.547203082319	0.54374	0.2781509896429978	0.27728	0.616976147991	0.56145	0.433331131935	0.29664	T	0.057402	0.30556	T	-0.279984	0.10668	T	-0.171089	0.57344	T	0.0104695570204428	0.00145	T	0.562944	0.19809	T	0.068087645	0.14802	0.08164795	0.18573	0.068087645	0.14802	0.08164795	0.18573	-4.007	0.23909	T	.	.	0.065	0.01810	B	.	.	1.766864	0.22469	15.63	0.98688797135490314	0.44723	0.32870	0.24690	N	AEFBCI	0.046293	0.07669	N	-0.605950491862245	0.18765	0.9768503	-0.704589039280848	0.16847	0.8930976	0.578024522946595	0.21547	0.646311	0.45356	0	0.577304	0.33150	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	3.61	2.73	0.31266	0.365000	0.20076	.	.	0.676000	0.76740	0.033000	0.20612	.	.	0.079000	0.17189	0.1056:0.0:0.8944:0.0	9.131	0.36005	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	649.98	31	chr7	4762342	.	G	A	649.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.230e-01;DP=673;ExcessHet=0.0000;FS=1.137;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.44;ReadPosRankSum=0.839;SOR=0.904	GT:AD:DP:GQ:PL	0/0:26,0:26:72:0,72,1080	20	0	1	0
chr7	4783771	4783773	CTT	-	exonic	AP5Z1	.	nonframeshift deletion	AP5Z1:NM_001364858:exon4:c.126_128del:p.F44del	Spastic paraplegia 48, autosomal recessive, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	683902	Hereditary_spastic_paraplegia_48	MONDO:MONDO:0013342,MedGen:C3150901,OMIM:613647,Orphanet:306511	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0004	0	0	0	0	0.0012	0	0	3.84e-05	1	26028	rs759357796	0.0001	0.0001	0.0001	0.0001	0.0006	0.0001	9.643e-05	0.0004	0.0003	0	0	0.0029	0.0006	0	0	5.282e-05	0.0002	6.308e-05	0.0001	0.0001	0.0001	6.713e-05	0.0006	6.506e-05	5.318e-05	0.0002	8.985e-05	0	0	0	0.0023	0.0004	0	0	4.411e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	168.94	31	chr7	4783770	.	GCTT	G	168.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.27;DP=663;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=-1.889e+00;SOR=0.804	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,865	20	0	1	0
chr7	4790557	4790557	G	A	exonic	AP5Z1	.	nonsynonymous SNV	AP5Z1:NM_001364858:exon14:c.G1436A:p.G479D	Spastic paraplegia 48, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2308684	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.24	T	0.452	B	0.117	B	.	.	1.000	N	0.92	L	1.11	T	-1.057	T	0.063	T	0.07	1.767	11.87	1.18	0.313	2.414	6.584	0.034	0.0158213524919	.	.	8.373e-06	0	0	0	0	0	0	6.063e-05	6.5e-06	1	154602	rs758214725	6.846e-06	6.84e-06	6.811e-06	6.881e-06	0.0001	3.46e-06	2.52e-06	5.395e-05	4.042e-05	2.987e-05	0	0	0	0	0	0	0	0.0001	1.314e-05	1.313e-05	2.569e-05	0	0.0004	2.18e-06	8.2e-07	7.29e-05	3.029e-05	0	0	0	0	0	0	0	0	0	0.0004	0.137	0.25979	T	0.294	0.20745	T	0.452	0.36118	B	0.117	0.32014	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	1.11	0.38883	T	-0.97	0.25770	N	0.233	0.26233	-1.0572	0.12465	T	0.063	0.26314	T	9	0.0763872	0.11926	T	0.015821	0.36761	T	0.034	0.08419	0.296	0.26041	0.0297737177859	0.01360	0.17497735284527335	0.17416	.	.	0.320216149092	0.13455	T	0.017577	0.14314	T	-0.413284	0.01890	T	-0.628776	0.10508	T	0.0315204394245566	0.02229	T	0.349965	0.07784	T	0.031169504	0.02909	0.05128787	0.08225	0.031169504	0.02908	0.05128787	0.08225	-1.14	0.01168	T	0.2168787414435399	0.29181	0.159	0.35077	B	.;.	.;.	1.736260	0.22098	15.48	0.76956450491917705	0.11677	0.40324	0.26411	N	AEFDGBCI	0.117928	0.23080	N	-0.629017394328834	0.18077	0.9355811	-0.634432223267902	0.18610	0.9949579	0.916309425528824	0.26509	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.53	1.18	0.20058	2.434000	0.44460	1.837000	0.29159	-0.170000	0.11276	0.762000	0.29265	0.006000	0.19429	0.002000	0.04165	0.6199:0.0:0.3801:0.0	6.584	0.21806	884	0.28482	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1518.98	36	chr7	4790557	.	G	A	1518.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.492;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=0.864;SOR=0.657	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1227	20	0	1	0
chr7	4801671	4801671	G	A	exonic	RADIL	.	nonsynonymous SNV	RADIL:NM_018059:exon12:c.C2824T:p.R942W,	.	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.992	D	0.332	B	0.197	N	1.000	N	1.39	L	3.26	T	-1.014	T	0.015	T	0.102	1.825	12.06	1.94	0.492	-0.464	2.586	0.064	0.0521633707985	0.0015	0.00119808	0.0016	0.0031	0.0013	0	0.0007	0.0023	0.0058	0.0002	0.0007568	117	154602	rs200934454	0.0009	0.0009	0.0009	0.0009	0.0016	0.0009	0.0009	0.0013	0.0011	0.0016	0.0008	0.0015	0	1.967e-05	0.0006	0.0010	0.0010	0.0002	0.0010	0.0010	0.0010	0.0010	0.0015	0.0009	0.0008	0.0012	0.0010	0.0014	0	0.0015	0.0014	0	0	0	0.0008	0.0028	0.0008	0.024	0.47745	D	0.069	0.43913	T	0.964	0.55854	D	0.153	0.34292	B	0.197062	0.03292	N	1.619370	1	0.08975	N	1.39	0.34934	L	3.26	0.06681	T	-1.81	0.42575	N	0.06	0.03175	-1.0139	0.25688	T	0.015	0.05994	T	10	0.010006905	0.00224	T	0.052163	0.64960	D	0.064	0.18567	.	.	0.299427821978	0.29548	0.37678439900437627	0.37592	0.0445999662892	0.04821	0.485591411591	0.36828	T	0.005487	0.04941	T	-0.647555	0.00075	T	-0.721959	0.04702	T	0.0218345504367071	0.00890	T	0.669433	0.27806	T	0.044252295	0.07040	0.038043886	0.03587	0.044252295	0.07040	0.038043886	0.03587	-5.128	0.38201	T	.	.	0.084	0.09723	B	.	.	1.528869	0.19621	14.35	0.98132580480006526	0.38530	0.06190	0.12175	N	AEFDBI	0.211914	0.33765	N	-0.496268646924147	0.22203	1.183873	-0.642503900645031	0.18407	0.9831232	0.00102633286872558	0.08137	0.700653	0.57754	0	0.578056	0.33634	0	0.717052	0.78885	0	0.562822	0.20929	0	.	.	4.95	1.94	0.25058	-1.158000	0.03264	-1.596000	0.05094	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0958:0.1669:0.4428:0.2945	2.586	0.04538	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	385.98	34	chr7	4801671	.	G	A	385.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.800e-01;DP=735;ExcessHet=0.0000;FS=1.091;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.42;ReadPosRankSum=-1.198e+00;SOR=0.519	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1195	20	0	1	0
chr7	4835210	4835210	G	C	exonic	RADIL	.	nonsynonymous SNV	RADIL:NM_018059:exon4:c.C813G:p.D271E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.380	N	0.997	N	-1.905	N	3.46	T	-0.975	T	0.017	T	0.055	0.033	4.183	-0.929	-0.187	0.238	6.883	0.060	0.0113212063759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.854e-07	6.84e-07	0	1.377e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.380259	0.04416	N	1.480890	0.996937	0.22851	N	-1.56	0.00457	N	3.46	0.05249	T	1.13	0.01182	N	0.055	0.02658	-0.9746	0.36213	T	0.017	0.06807	T	10	0.04378012	0.03264	T	0.011321	0.28825	T	0.147	0.38986	0.307	0.27806	0.0986583533028	0.09354	0.2679564993953277	0.26708	0.0415351482305	0.04460	0.498170495033	0.38573	T	0.001101	0.00619	T	-0.395151	0.02490	T	-0.805383	0.01771	T	0.0364246277960856	0.03054	T	0.662834	0.27173	T	0.0363297	0.04449	0.03548026	0.02807	0.0363297	0.04449	0.03548026	0.02806	-1.873	0.02736	T	.	.	0.091	0.13315	B	.	.	1.338611	0.17450	13.17	0.74674720401519912	0.10784	0.51984	0.29024	D	AEFDGBCI	0.122967	0.23836	N	-0.510866568960097	0.21727	1.155227	-0.393890527159633	0.25178	1.383092	4.04050413286549E-4	0.06860	0.646311	0.45356	0	0.588015	0.36545	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.75	-0.929	0.09913	0.168000	0.16438	-0.018000	0.12964	0.676000	0.76740	0.970000	0.34288	0.719000	0.26340	0.999000	0.91618	0.0:0.5387:0.2113:0.25	6.883	0.23366	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	404.98	40	chr7	4835210	.	G	C	404.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.97;DP=786;ExcessHet=0.0000;FS=3.212;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.12;ReadPosRankSum=-1.006e+00;SOR=1.538	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1381	20	0	1	0
chr7	4860226	4860226	C	G	exonic	PAPOLB	.	nonsynonymous SNV	PAPOLB:NM_020144:exon1:c.G1585C:p.G529R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.088	B	0.045	B	.	.	1.000	N	0.345	N	.	.	-1.027	T	0.057	T	0.046	-0.637	1.187	2.66	0.819	3.523	8.331	0.049	0.00569580012353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.544	0.09621	T	0.088	0.25022	B	0.045	0.24526	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.113	0.10056	-1.0270	0.21429	T	0.057	0.23942	T	8	0.12337512	0.23419	T	0.005696	0.14742	T	0.049	0.13647	.	.	0.370608029945	0.36667	0.15260380103135684	0.15182	0.134033539515	0.15102	0.242401435971	0.03010	T	.	.	.	-0.273004	0.11424	T	-0.629928	0.10420	T	0.101087149149884	0.12476	T	0.948505	0.80194	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.13644	B	.	.	1.935340	0.24581	16.45	0.42693050946042072	0.03164	0.95188	0.63763	D	AEFGBI	0.337765	0.43545	N	-0.654240595800082	0.17337	0.8912466	-0.598098565084437	0.19542	1.048975	5.54759051862418E-4	0.07304	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	4.48	2.66	0.30672	3.737000	0.54781	1.814000	0.28986	0.549000	0.26987	0.997000	0.40164	0.004000	0.18990	0.193000	0.21690	0.0:0.7535:0.1579:0.0886	8.331	0.31348	835	0.38313	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1677.98	34	chr7	4860226	.	C	G	1677.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.775e+00;DP=864;ExcessHet=0.0000;FS=3.044;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=0.335;SOR=0.968	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1184	20	0	1	0
chr7	5064954	5064954	G	A	exonic	RBAK	.	nonsynonymous SNV	RBAK:NM_021163:exon5:c.G1498A:p.D500N	.	.	413	1091	17	1	0	19	0.00863244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	B	0.001	B	0.233	N	0.995	N	0.565	N	2.49	T	-0.983	T	0.016	T	0.049	-0.543	1.536	-1.42	-0.279	0.061	4.422	0.018	0.00121223142827	0.0009	0.00139776	0.0015	0.0010	0.0008	0	0	0.0014	0.0011	0.0038	0.0012872	199	154602	rs149739845	0.0009	0.0009	0.0008	0.0011	0.0054	0.0009	0.0009	0.0040	0.0039	0.0005	0.0006	0.0017	0	1.872e-05	0.0054	0.0007	0.0012	0.0044	0.0008	0.0008	0.0007	0.0009	0.0044	0.0007	0.0006	0.0029	0.0025	0.0007	0	0.0009	0.0009	0	9.464e-05	0.0034	0.0008	0.0005	0.0044	0.502	0.07695	T	0.491	0.11515	T	0.001	0.07471	B	0.001	0.04355	B	0.233062	0.15876	N	0.565121	.	.	.	-0.45	0.02807	N	2.49	0.14531	T	-0.09	0.08340	N	0.088	0.06587	-0.9827	0.34375	T	0.016	0.06616	T	8	0.006048858	0.00136	T	0.001212	0.01583	T	0.018	0.03083	.	.	0.0482279557977	0.04254	0.11366945105048618	0.11294	0.0712543647857	0.07981	0.293589174747	0.09449	T	0.01575	0.13153	T	-0.740965	0.00020	T	-0.837641	0.01135	T	0.000333575056128164	0.00003	T	0.166283	0.01543	T	0.01795362	0.00318	0.020732109	0.00152	0.01795362	0.00318	0.020732109	0.00152	-4.298	0.28149	T	.	.	0.082	0.08754	B	.;.	.;.	0.761272	0.11309	7.932	0.7951076946333282	0.12775	0.00009	0.00143	N	AEFDGBHCI	0.041901	0.06431	N	-1.04311244204094	0.07723	0.3597564	-1.08192594315864	0.08057	0.3944742	0.0136590108915788	0.12493	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.636168	0.56350	0	.	.	3.77	-1.42	0.08446	-0.698000	0.05194	-0.421000	0.09284	-0.108000	0.15293	0.000000	0.06391	0.000000	0.08366	0.747000	0.35681	0.3632:0.3103:0.3266:0.0	4.422	0.10912	917	0.20147	Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1528.98	70	chr7	5064954	.	G	A	1528.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=1313;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.53;ReadPosRankSum=0.264;SOR=0.665	GT:AD:DP:GQ:PL	0/0:82,0:82:99:0,120,1800	20	0	1	0
chr7	5312996	5312998	GAG	-	exonic	TNRC18	.	nonframeshift deletion	TNRC18:NM_001080495:exon27:c.7893_7895del:p.S2671del,	.	.	449	1069	3	0	1	4	0.00140121	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs762048914	0.0002	0.0001	0.0002	0.0001	0.0021	0.0001	0.0001	0.0009	0.0006	0.0003	0.0004	0	0	0	0.0021	0.0001	0.0005	0.0003	0.0001	0.0001	0.0001	0.0002	0.0003	9.552e-05	7.974e-05	0.0001	9.111e-05	0.0001	0	7.35e-05	0	0.0003	0	0	0.0002	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	391.94	31	chr7	5312995	.	AGAG	A	391.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.709;DP=680;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.07;ReadPosRankSum=-9.860e-01;SOR=0.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:32,0:32:90:.:.:0,90,1350	20	0	1	0
chr7	5313028	5313028	-	GAGGAT	exonic	TNRC18	.	nonframeshift insertion	TNRC18:NM_001080495:exon27:c.7862_7863insATCCTC:p.S2671_T2672insSS,	.	.	447	380	383	306	6	1001	0.566952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0170	0.0195	0.0098	0.0052	0	0.0151	0.0270	0.0187	0.0104591	1617	154602	rs768319122	0.0012	0.0023	0.0011	0.0012	0.0020	0.0011	0.0011	0.0017	0.0016	0.0001	0.0008	4.831e-05	0	0.0001	0	0.0013	0.0010	0.0020	0.0010	0.0029	0.0012	0.0008	0.0017	0.0009	0.0008	0.0014	0.0013	0.0004	0	0.0007	0	0.0004	0	0	0.0017	0.0020	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	16164.21	33	chr7	5313028	.	G	T,GGAGGAT	16164.21	.	AC=27,1;AF=0.643,0.024;AN=42;BaseQRankSum=-6.260e-01;DP=860;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=27,1;MLEAF=0.643,0.024;MQ=59.83;MQRankSum=0.00;QD=19.78;ReadPosRankSum=0.311;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:16,21,0:37:99:.:.:599,0,452,647,515,1162	0	6	14	0
chr7	5313185	5313187	CTA	-	exonic	TNRC18	.	nonframeshift deletion	TNRC18:NM_001080495:exon27:c.7704_7706del:p.S2577del,	.	.	330	1123	67	0	2	69	0.0289667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0142	0.0010	0.0032	0	0	0.0071	0.0064	0.0226	3.84e-05	1	26028	rs771326389	0.0008	0.0019	0.0004	0.0012	0.0011	0.0008	0.0007	0.0008	0.0008	9.554e-05	0.0004	0.0002	2.803e-05	0.0003	0.0011	0.0009	0.0007	0.0009	1.319e-05	0.0004	1.29e-05	1.351e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	6.566e-05	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	179.94	40	chr7	5313184	.	GCTA	G	179.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.400e+00;DP=895;ExcessHet=0.0000;FS=1.441;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.75;MQRankSum=-7.301e+00;QD=3.27;ReadPosRankSum=2.14;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,101,1531	20	0	1	0
chr7	5313187	5313187	A	0	exonic	TNRC18	.	.	.	.	.	336	1098	17	2	69	90	0.00947226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	896.95	40	chr7	5313187	.	A	G,*	896.95	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=0.388;DP=931;ExcessHet=0.6776;FS=0.604;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=59.20;MQRankSum=-5.399e+00;QD=3.14;ReadPosRankSum=2.54;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0,0:40:99:.:.:0,101,1531,101,1531,1531	17	0	3	0
chr7	5313191	5313199	CTGCCACTA	-	exonic	TNRC18	.	nonframeshift deletion	TNRC18:NM_001080495:exon27:c.7692_7700del:p.G2566_S2568del,	.	.	329	1130	62	0	1	63	0.0267011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0124	0.0010	0.0031	0	0	0.0063	0.0065	0.0200	3.84e-05	1	26028	rs770288182	0.0007	0.0015	0.0004	0.0011	0.0008	0.0007	0.0007	0.0008	0.0008	9.519e-05	0.0003	0.0002	2.799e-05	0.0002	0.0002	0.0008	0.0007	0.0003	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	164.94	40	chr7	5313190	.	GCTGCCACTA	G	164.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.529e+00;DP=926;ExcessHet=0.0000;FS=1.499;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.86;MQRankSum=-7.639e+00;QD=2.75;ReadPosRankSum=2.70;SOR=0.387	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,101,1531	20	0	1	0
chr7	5313194	5313196	CCA	-	exonic	TNRC18	.	nonframeshift deletion	TNRC18:NM_001080495:exon27:c.7695_7697del:p.G2566del,	.	.	337	1109	10	1	65	77	0.00538117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0027	0.0015	0.0030	0	0	0.0002	0	0.0053	3.84e-05	1	26028	rs764373181	0.0003	0.0007	0.0001	0.0004	0.0041	0.0003	0.0003	0.0037	0.0036	0	0.0003	0	0	2.147e-05	0.0015	4.467e-05	0.0003	0.0041	0.0001	0.0006	0.0001	0.0002	0.0023	9.767e-05	8.277e-05	0.0013	0.0010	0	0	0.0001	0	0	0	0	0.0001	0	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	666.24	40	chr7	5313193	.	GCCA	G,*	666.24	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-2.530e-01;DP=931;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=59.22;MQRankSum=-5.476e+00;QD=3.03;ReadPosRankSum=3.05;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0,0:40:99:.:.:0,101,1531,101,1531,1531	18	0	2	0
chr7	5313193	5313196	GCCA	0	exonic	TNRC18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	666.24	40	chr7	5313193	.	GCCA	G,*	666.24	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-2.530e-01;DP=931;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=59.22;MQRankSum=-5.476e+00;QD=3.03;ReadPosRankSum=3.05;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0,0:40:99:.:.:0,101,1531,101,1531,1531	18	0	2	0
chr7	5313195	5313195	C	T	exonic	TNRC18	.	nonsynonymous SNV	TNRC18:NM_001080495:exon27:c.G7696A:p.G2566S,	.	.	338	1102	6	0	76	82	0.00271493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	.	.	0.970	N	-1.04	N	3.61	T	-0.972	T	0.021	T	0.281	-2.230	0.005	-1.05	-0.388	0.181	7.080	0.019	0.566132589096	.	.	0.0003	0	0	0	0	0	0	0.0007	.	.	.	rs1219465497	4.69e-05	0.0001	4.547e-05	4.837e-05	0.0004	3.77e-05	3.435e-05	0.0003	0.0003	3.174e-05	0	0	0.0002	0	0.0002	2.049e-05	3.475e-05	0.0004	2.64e-05	9.222e-05	2.578e-05	2.705e-05	0.0002	8.17e-06	5.16e-06	.	.	0	0	6.578e-05	0	0.0002	0	0	1.477e-05	0	0.0002	1.0	0.00964	T	0.725	0.05256	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.805	0.01590	N	3.61	0.04446	T	0.32	0.03955	N	0.08	0.09490	-0.9716	0.36862	T	0.021	0.08732	T	9	0.037908286	0.02174	T	0.566133	0.96059	D	0.019	0.03383	0.341	0.33302	0.043077524339	0.03247	0.08017200187297086	0.07952	0.532972911341	0.50740	0.694028973579	0.66284	T	0.003271	0.02677	T	-0.305229	0.08175	T	-0.676217	0.07216	T	0.00504245816284424	0.00054	T	0.40486	0.10377	T	0.0329393	0.03415	0.060975783	0.11699	0.0329393	0.03415	0.060975783	0.11699	0.738	0.00169	T	.	.	0.049	0.00120	B	.;.	.;.	-0.749459	0.01211	0.060	0.69442881910546073	0.08974	0.01164	0.04193	N	AEFDGBHCI	0.027282	0.02201	N	-1.27617096913996	0.03964	0.178059	-1.33243786506907	0.04017	0.1886088	0.00213243111244773	0.09181	0.580535	0.33130	0	0.550933	0.16991	0	0.576033	0.28219	0	0.491896	0.07777	0	.	.	4.38	-1.05	0.09523	-0.047000	0.11917	-0.402000	0.09404	-0.317000	0.05909	0.000000	0.06391	0.000000	0.08366	0.164000	0.20782	0.0:0.4146:0.1264:0.459	7.080	0.24402	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	219.24	40	chr7	5313195	.	C	T,*	219.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=0.807;DP=935;ExcessHet=0.6776;FS=0.598;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=59.04;MQRankSum=-4.350e+00;QD=0.75;ReadPosRankSum=3.05;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0,0:40:99:.:.:0,101,1531,101,1531,1531	17	0	1	0
chr7	5313195	5313195	C	0	exonic	TNRC18	.	.	.	.	.	338	1102	6	0	76	82	0.00271493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	219.24	40	chr7	5313195	.	C	T,*	219.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=0.807;DP=935;ExcessHet=0.6776;FS=0.598;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=59.04;MQRankSum=-4.350e+00;QD=0.75;ReadPosRankSum=3.05;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0,0:40:99:.:.:0,101,1531,101,1531,1531	17	0	1	0
chr7	5313196	5313196	A	0	exonic	TNRC18	.	.	.	.	.	342	1098	6	0	76	82	0.0027248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	219.24	40	chr7	5313196	.	A	G,*	219.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=1.86;DP=935;ExcessHet=0.6776;FS=0.598;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=59.04;MQRankSum=-4.350e+00;QD=0.75;ReadPosRankSum=3.12;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0,0:40:99:.:.:0,101,1531,101,1531,1531	17	0	1	0
chr7	5313199	5313199	A	0	exonic	TNRC18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	926.95	40	chr7	5313199	.	A	G,*	926.95	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=0.392;DP=926;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=59.13;MQRankSum=-5.182e+00;QD=3.30;ReadPosRankSum=2.96;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0,0:40:99:.:.:0,101,1531,101,1531,1531	17	0	3	0
chr7	5313813	5313813	T	A	exonic	TNRC18	.	nonsynonymous SNV	TNRC18:NM_001080495:exon27:c.A7078T:p.T2360S,	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.95	T	0.0	B	0.001	B	0.660	N	1.000	N	1.245	L	2.84	T	-0.951	T	0.096	T	0.093	-0.419	2.045	-4.72	-0.826	-0.486	12.746	0.042	0.00824867575367	.	0.000399361	0.0003	0	0	0	0	0	0.0014	0.0032	0.0002393	37	154602	rs556530143	0.0002	0.0003	0.0001	0.0004	0.0045	0.0002	0.0002	0.0041	0.0039	0	0	0	0	0	0	2.821e-06	7.152e-05	0.0045	0.0002	0.0002	9.004e-05	0.0002	0.0050	0.0001	9.247e-05	0.0034	0.0029	0	0	0	0	0	0	0	0	0	0.0050	0.314	0.18184	T	0.861	0.03399	T	0.0	0.02946	B	0.001	0.04355	B	0.659509	0.10440	N	0.775506	1	0.08975	N	0.66	0.16226	N	2.84	0.11082	T	0.09	0.05917	N	0.184	0.21969	-0.9507	0.40851	T	0.096	0.36133	T	10	0.0067671835	0.00154	T	0.008249	0.21853	T	0.042	0.11227	0.145	0.04843	0.043077524339	0.03247	0.035486482311257714	0.03495	0.712544141497	0.61773	0.36412191391	0.19984	T	0.00488	0.04301	T	-0.683428	0.00046	T	-0.755629	0.03272	T	0.0151114643122663	0.00328	T	0.60234	0.22547	T	0.032373775	0.03250	0.046084184	0.06345	0.032373775	0.03250	0.046084184	0.06345	-2.776	0.07964	T	.	.	0.080	0.07841	B	.;.	.;.	0.831834	0.12032	8.589	0.60693460943058097	0.06525	0.19765	0.20787	N	AEFBI	0.093879	0.18989	N	-0.717689560358113	0.15525	0.7831449	-0.87066158628571	0.12792	0.6600426	0.00109655051272427	0.08217	0.706548	0.73137	0	0.643519	0.57511	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.6	-4.72	0.03032	-0.311000	0.08164	-0.400000	0.09416	0.578000	0.29377	0.001000	0.13787	0.000000	0.08366	0.958000	0.51230	0.0:0.5832:0.0:0.4168	12.746	0.56654	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1068.98	36	chr7	5313813	.	T	A	1068.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.960e-01;DP=805;ExcessHet=0.0000;FS=0.840;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.04;ReadPosRankSum=-5.750e-01;SOR=0.874	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1183	20	0	1	0
chr7	5370382	5370382	C	G	exonic	TNRC18	.	nonsynonymous SNV	TNRC18:NM_001080495:exon11:c.G4212C:p.E1404D,	.	.	426	1044	48	4	0	56	0.0261194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.176	B	0.07	B	0.272	N	1.000	N	2.045	M	2.46	T	-1.041	T	0.038	T	0.062	0.075	4.404	1.13	0.345	0.776	4.587	0.044	.	0.0015	0.00139776	0.0071	0.0013	0.0079	0.0021	0.0011	0.0036	0.0042	0.0152	0.0017141	265	154602	rs200279443	0.0032	0.0031	0.0027	0.0037	0.0167	0.0031	0.0031	0.0159	0.0156	0.0009	0.0027	0.0041	5.614e-05	0.0013	0.0148	0.0023	0.0041	0.0167	0.0022	0.0022	0.0021	0.0022	0.0116	0.0020	0.0019	0.0092	0.0083	0.0008	0.0264	0.0022	0.0035	0.0002	0.0009	0.0034	0.0022	0.0038	0.0116	0.164	0.23360	T	0.227	0.25362	T	0.176	0.28893	B	0.07	0.27859	B	0.272151	0.15107	N	0.487974	0.929546	0.27093	N	1.12	0.28775	L	2.46	0.15028	T	-1.8	0.42384	N	0.171	0.18239	-1.0408	0.17071	T	0.038	0.16246	T	10	0.002628386	0.00040	T	.	.	.	0.044	0.11924	0.539	0.65018	0.043077524339	0.03247	0.16282630156312533	0.16202	0.0415005756908	0.04460	0.483406841755	0.36525	T	0.026167	0.19419	T	-0.671544	0.00054	T	-0.723777	0.04615	T	0.00157307252166407	0.00016	T	0.593441	0.21910	T	0.04499418	0.07289	0.060470115	0.11521	0.04499418	0.07288	0.060470115	0.11521	-7.447	0.57236	T	.	.	0.082	0.08802	B	.;.	.;.	0.390632	0.07625	4.285	0.73719689406487532	0.10430	0.52518	0.29151	D	AEFGBI	0.177542	0.30479	N	-0.56368611205654	0.20057	1.054497	-0.584215349627881	0.19904	1.070019	0.00837838376043401	0.11664	0.706548	0.73137	0	0.577304	0.33150	0	0.576033	0.28219	0	0.714379	0.83352	0	.	.	4.72	1.13	0.19758	0.796000	0.26646	-1.176000	0.06110	-0.322000	0.05848	0.550000	0.27346	0.000000	0.08366	0.214000	0.22296	0.0:0.3876:0.3987:0.2137	4.587	0.11683	917	0.20147	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1278.98	56	chr7	5370382	.	C	G	1278.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.220;DP=1237;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.84;ReadPosRankSum=-3.830e-01;SOR=0.734	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1222	20	0	1	0
chr7	5388800	5388800	G	A	exonic	TNRC18	.	nonsynonymous SNV	TNRC18:NM_001080495:exon5:c.C1024T:p.P342S,	.	.	389	1116	17	0	0	17	0.00755892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.3	B	0.045	B	.	.	0.995	N	0.55	N	2.71	T	-0.973	T	0.019	T	0.133	-0.076	3.628	2.46	0.621	1.141	9.702	0.020	0.273069471669	.	0.000998403	0	.	.	.	.	0	.	0	0.0008068	21	26028	rs545967660	0.0023	0.0020	0.0022	0.0024	0.0106	0.0022	0.0022	0.0075	0.0065	0.0006	0.0026	0.0002	5.167e-05	9.114e-05	0.0106	0.0023	0.0032	0.0068	0.0017	0.0017	0.0017	0.0017	0.0079	0.0015	0.0015	0.0059	0.0052	0.0004	0	0.0022	0	0	0	0.0034	0.0024	0.0034	0.0079	0.479	0.08261	T	0.436	0.13480	T	0.3	0.32550	B	0.045	0.24526	B	.	.	.	.	1	0.08975	N	0.46	0.12951	N	2.71	0.12055	T	-0.95	0.25332	N	0.155	0.27792	-0.9728	0.36605	T	0.019	0.07893	T	9	0.007889897	0.00179	T	0.273069	0.89953	D	0.020	0.03691	.	.	0.043077524339	0.03247	0.12455198349304658	0.12381	1.69600566787	0.90213	0.786305367947	0.79881	T	0.004678	0.04092	T	-0.626848	0.00100	T	-0.673071	0.07413	T	0.0416126427995412	0.03984	T	0.50395	0.15873	T	0.059168212	0.11992	0.10602899	0.25498	0.059168212	0.11992	0.10602899	0.25498	-4.589	0.32033	T	.	.	0.079	0.07412	B	.;.	.;.	0.707370	0.10760	7.449	0.93279535666154278	0.22982	0.10843	0.16231	N	AEFBCI	0.086737	0.17587	N	-0.870499814105625	0.11549	0.5579286	-0.900719528568263	0.12076	0.6191579	0.0256959790869053	0.13665	0.455138	0.09556	0	0.550933	0.16991	0	0.606884	0.38211	0	0.604944	0.38103	0	.	.	3.35	2.46	0.29032	0.568000	0.23326	0.488000	0.18872	0.558000	0.28311	0.442000	0.26503	0.957000	0.29195	0.039000	0.14166	0.0:0.6036:0.3964:0.0	9.702	0.39359	893	0.26510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	267.98	17	chr7	5388800	.	G	A	267.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.660e-01;DP=498;ExcessHet=0.0000;FS=1.913;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.76;ReadPosRankSum=-2.010e-01;SOR=1.270	GT:AD:DP:GQ:PL	0/0:24,0:24:60:0,60,900	20	0	1	0
chr7	5388814	5388814	G	A	exonic	TNRC18	.	nonsynonymous SNV	TNRC18:NM_001080495:exon5:c.C1010T:p.P337L,	.	.	388	1128	6	0	0	6	0.00265252	.	.	722582	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.75	T	0.01	B	0.004	B	.	.	0.560	N	0.805	L	2.71	T	-0.962	T	0.021	T	0.299	0.869	8.523	2.06	0.673	0.366	9.844	0.024	0.322948488235	.	0.00119808	0	.	.	.	0	.	.	0	0.0012294	32	26028	rs557962394	0.0034	0.0029	0.0035	0.0033	0.0059	0.0033	0.0033	0.0036	0.0032	0.0005	0.0021	0.0316	5.484e-05	0.0005	0.0059	0.0033	0.0043	0.0006	0.0026	0.0026	0.0028	0.0023	0.0032	0.0024	0.0023	0.0029	0.0027	0.0003	0.0022	0.0019	0.0298	0	0.0007	0.0069	0.0032	0.0043	0.0008	0.021	0.49613	D	0.138	0.33780	T	0.01	0.15535	B	0.004	0.10090	B	.	.	.	.	0.991	0.24122	N	0.695	0.17993	N	2.71	0.12055	T	-1.98	0.45769	N	0.306	0.34552	-0.9624	0.38723	T	0.021	0.08963	T	9	0.006262839	0.00141	T	0.322948	0.91528	D	0.024	0.04979	.	.	.	.	0.1066599531955589	0.10595	2.02942043651	0.94063	0.8397564888	0.88058	D	0.010251	0.09270	T	-0.553295	0.00279	T	-0.553266	0.17013	T	0.0659644716839945	0.08072	T	0.518548	0.16835	T	0.0373426	0.04771	0.095098324	0.22539	0.0373426	0.04770	0.095098324	0.22539	-4.705	0.33465	T	.	.	0.101	0.17742	B	.;.	.;.	1.961594	0.24919	16.57	0.96237921489727196	0.29141	0.03828	0.09172	N	AEFDBCI	0.028662	0.02568	N	-0.885229577202427	0.11194	0.5388487	-0.843176184922383	0.13451	0.6978884	0.0147879454883753	0.12638	0.455138	0.09556	0	0.550933	0.16991	0	0.606884	0.38211	0	0.604944	0.38103	0	.	.	3.94	2.06	0.25932	1.696000	0.37392	5.806000	0.49972	-0.232000	0.07691	0.933000	0.32380	1.000000	0.68203	0.070000	0.16646	0.1739:0.0:0.8261:0.0	9.844	0.40186	893	0.26510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	555.99	18	chr7	5388814	.	G	A	555.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.124;DP=435;ExcessHet=0.0000;FS=2.709;InbreedingCoeff=-0.0255;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=2.07;SOR=0.673	GT:AD:DP:GQ:PL	0/0:22,0:22:60:0,60,900	20	0	1	0
chr7	5388964	5388964	C	G	exonic	TNRC18	.	nonsynonymous SNV	TNRC18:NM_001080495:exon5:c.G860C:p.G287A,	.	.	405	1116	1	0	0	1	0.000447828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.953	P	0.794	P	.	.	1.000	N	0.805	L	2.17	T	-1.030	T	0.051	T	0.058	-1.878	0.008	.	0.172	0.195	.	0.026	0.136843085771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.912	0.02355	T	0.242	0.24334	T	0.953	0.54283	P	0.794	0.57880	P	.	.	.	.	1	0.08975	N	0	0.06538	N	2.17	0.19020	T	-1.15	0.29525	N	0.203	0.22486	-1.0296	0.20583	T	0.051	0.21806	T	7	0.080803305	0.13157	T	0.136843	0.81933	D	0.026	0.05648	0.24	0.17218	0.043077524339	0.03247	0.10457438511022873	0.10387	2.03962625952	0.94218	0.777940154076	0.78617	T	0.020245	0.15973	T	-0.35715	0.04294	T	-0.750797	0.03454	T	0.110293672938015	0.13453	T	0.476852	0.14330	T	0.12739511	0.29813	0.12722869	0.30629	0.12739511	0.29813	0.12722869	0.30629	-3.335	0.14193	T	.	.	0.073	0.04599	B	.;.	.;.	0.465662	0.08354	5.104	0.33341148941386045	0.01981	0.10948	0.16303	N	AEFDBHCI	0.070418	0.13977	N	-0.704356029146436	0.15898	0.8053602	-0.978826124101856	0.10262	0.515679	0.493540544273596	0.20884	0.660377	0.49826	0	0.694456	0.67091	0	0.503968	0.08637	0	0.604944	0.38103	0	.	.	.	.	.	0.195000	0.16960	1.656000	0.27872	0.218000	0.18051	0.005000	0.17040	0.229000	0.23770	0.013000	0.09966	.	.	.	893	0.26510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	793.98	35	chr7	5388964	.	C	G	793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=825;ExcessHet=0.0000;FS=1.998;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=0.081;SOR=0.995	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1177	20	0	1	0
chr7	5388991	5388991	G	A	exonic	TNRC18	.	nonsynonymous SNV	TNRC18:NM_001080495:exon5:c.C833T:p.P278L,	.	.	409	1110	2	1	0	4	0.00179856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.216	B	0.028	B	.	.	0.537	N	0.695	N	2.72	T	-1.007	T	0.023	T	0.085	0.479	6.599	3.44	0.773	4.503	10.151	0.032	0.347676181906	.	0.00139776	0.0021	0	0	0	0	0	0	0.0032	0.0001746	27	154602	rs541723803	0.0001	0.0001	5.792e-05	0.0002	0.0017	9.943e-05	9.392e-05	0.0015	0.0014	0	0	0	0	0	0.0002	2.126e-05	0.0002	0.0017	0.0002	0.0002	7.851e-05	0.0003	0.0048	0.0001	0.0001	0.0033	0.0028	4.845e-05	0	6.652e-05	0	0	0	0	0	0	0.0048	0.123	0.27544	T	0.171	0.30339	T	0.216	0.30161	B	0.028	0.21332	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	2.72	0.11947	T	-1.85	0.43334	N	0.185	0.22614	-1.0068	0.27912	T	0.023	0.09650	T	9	0.007940739	0.00180	T	0.347676	0.92185	D	0.032	0.07718	0.383	0.40134	0.043077524339	0.03247	0.0666382561044999	0.06601	1.70653453461	0.90380	0.832072138786	0.86880	D	0.024364	0.18426	T	-0.620219	0.00110	T	-0.670154	0.07599	T	0.0374629287121547	0.03237	T	0.560444	0.19591	T	0.07132448	0.15781	0.07093945	0.15133	0.07132448	0.15780	0.07093945	0.15133	-4.168	0.26286	T	.	.	0.213	0.44135	B	.;.	.;.	2.434066	0.31314	18.70	0.93158241780075912	0.22809	0.63778	0.32196	D	AEFDBHCI	0.362833	0.45195	N	-0.474195059788077	0.22929	1.22772	-0.431340882689063	0.24082	1.316827	0.999237438309829	0.38840	0.660377	0.49826	0	0.694456	0.67091	0	0.606814	0.37721	0	0.699875	0.68795	0	.	.	4.35	3.44	0.38486	3.155000	0.50398	5.032000	0.46835	0.576000	0.29215	0.997000	0.40164	1.000000	0.68203	0.084000	0.17470	0.0:0.1592:0.6969:0.1439	10.151	0.41969	893	0.26510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	765.98	66	chr7	5388991	.	G	A	765.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.817;DP=835;ExcessHet=0.0000;FS=0.917;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.61;ReadPosRankSum=0.776;SOR=0.576	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1177	20	0	1	0
chr7	5741289	5741289	C	T	exonic	RNF216	.	nonsynonymous SNV	RNF216:NM_207111:exon4:c.G728A:p.R243H	Cerebellar ataxia and hypogonadotropic hypogonadism, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1944287	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	0.001	B	0.002	B	0.224	N	1.000	N	0.69	N	0.84	T	-1.081	T	0.059	T	0.064	2.103	12.99	-5.74	-1.004	-0.678	6.510	0.029	0.00319462828901	.	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.94e-05	3	154602	rs747054051	1.095e-05	1.094e-05	8.168e-06	1.375e-05	2.519e-05	6.48e-06	5.24e-06	5.75e-06	4.55e-06	0	0	0	2.519e-05	0	0	1.079e-05	3.311e-05	1.159e-05	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.139	0.25768	T	0.237	0.30143	T	0.001	0.07471	B	0.002	0.06944	B	0.223717	0.16079	N	0.624103	1	0.08975	N	1.935	0.51832	L	0.8	0.48769	T	-0.49	0.15578	N	0.173	0.21319	-1.0806	0.07233	T	0.059	0.24686	T	10	0.04543084	0.03612	T	0.003195	0.06996	T	0.029	0.06676	0.345	0.33950	0.0716867268079	0.06686	0.10642694729243973	0.10572	0.0306775052014	0.03170	0.198697671294	0.00420	T	0.049977	0.28463	T	-0.31459	0.07350	T	-0.674177	0.07344	T	0.0189801678061485	0.00607	T	0.833317	0.50212	T	0.01542865	0.00139	0.023647599	0.00378	0.01542865	0.00138	0.023647599	0.00378	-4.567	0.33441	T	.	.	0.078	0.06942	B	.;.	.;.	1.054435	0.14356	10.93	0.95562246148690277	0.27241	0.01806	0.05631	N	AEFGBI	0.028777	0.02598	N	-1.22499831865427	0.04640	0.2098289	-1.23766146454962	0.05316	0.2530072	0.962203275273649	0.28606	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.97	-5.74	0.02197	-0.630000	0.05599	-3.461000	0.02769	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.2023:0.2721:0.0:0.5256	6.510	0.21414	732	0.54084	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1648.98	37	chr7	5741289	.	C	T	1648.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.71;DP=858;ExcessHet=0.0000;FS=3.705;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.27;ReadPosRankSum=0.396;SOR=1.121	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1397	20	0	1	0
chr7	5741572	5741572	T	G	exonic	RNF216	.	nonsynonymous SNV	RNF216:NM_207111:exon4:c.A445C:p.S149R	Cerebellar ataxia and hypogonadotropic hypogonadism, Autosomal recessive	.	432	1085	5	0	0	5	0.00229885	.	.	655795	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.87	T	0.0	B	0.002	B	0.359	N	1.000	N	0.805	L	0.99	T	-1.005	T	0.056	T	0.064	1.235	10.01	3.28	1.125	1.135	5.967	0.018	.	.	0.00219649	0.0015	0	0.0002	0	0	7.492e-05	0.0022	0.0106	0.0012678	196	154602	rs558822123	0.0007	0.0007	0.0004	0.0010	0.0109	0.0007	0.0006	0.0103	0.0101	0	8.944e-05	0	2.519e-05	0	0.0010	1.799e-05	0.0008	0.0109	0.0004	0.0004	0.0002	0.0006	0.0114	0.0003	0.0003	0.0090	0.0081	2.407e-05	0	0	0	0	0	0.0034	2.941e-05	0.0009	0.0114	1.0	0.02327	T	0.243	0.24193	T	0.0	0.02946	B	0.002	0.06944	B	0.358609	0.13704	N	0.731501	0.999915	0.19599	N	-0.06	0.04898	N	0.95	0.43279	T	-0.23	0.10656	N	0.096	0.11912	-1.0051	0.28427	T	0.056	0.23753	T	10	0.0020068586	0.00028	T	.	.	.	0.018	0.03083	0.153	0.05648	0.21279746466	0.20884	0.09707152617461898	0.09638	0.0287149310921	0.02955	0.283838748932	0.08033	T	0.024812	0.18678	T	-0.640136	0.00083	T	-0.682893	0.06808	T	0.00869936997550139	0.00107	T	0.754325	0.37688	T	0.03808847	0.05009	0.048504848	0.07219	0.04031662	0.05732	0.05293437	0.08818	-4.216	0.26997	T	.	.	0.089	0.12228	B	.;.	.;.	1.877120	0.23844	16.17	0.97083381155228787	0.32289	0.53657	0.29425	D	AEFDGBI	0.069843	0.13842	N	-0.654647483151696	0.17326	0.890543	-0.514929055335291	0.21748	1.177943	0.939307442541245	0.27381	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	3.28	0.36691	1.029000	0.29747	2.757000	0.34577	0.665000	0.62972	0.272000	0.25065	0.988000	0.31051	0.992000	0.67800	0.1454:0.0776:0.0:0.777	5.967	0.18565	728	0.54609	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2451.98	37	chr7	5741572	.	T	G	2451.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.843e+00;DP=946;ExcessHet=0.0000;FS=2.511;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.04;ReadPosRankSum=-1.710e-01;SOR=0.531	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1397	20	0	1	0
chr7	5919961	5919961	G	C	exonic	CCZ1	.	nonsynonymous SNV	CCZ1:NM_015622:exon12:c.G1101C:p.M367I,	.	.	.	.	.	.	.	.	.	.	.	3424830	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.41	T	0.0	B	0.0	B	0.000	N	0.998	N	-1.245	N	.	.	-0.998	T	0.006	T	0.083	-0.772	0.754	-2.58	-0.764	0.211	5.929	0.074	0.0115101475763	.	.	1.694e-05	0	0	0	0	3.1e-05	0	0	3.84e-05	1	26028	rs192141490	3.543e-05	0.0011	2.117e-05	4.982e-05	0.0002	2.725e-05	2.46e-05	9.67e-06	7.9e-06	0	2.277e-05	0	0	0.0006	0.0002	1.587e-05	3.432e-05	0	7.03e-06	4.787e-05	0	1.441e-05	1.567e-05	0	0	.	.	0	0	0	0	0	0	0	1.567e-05	0	0	0.89	0.02483	T	0.811	0.03933	T	.	.	.	.	.	.	0.000083	0.51296	N	0.198789	0.998309	0.22236	N	.	.	.	.	.	.	-0.18	0.09796	N	0.111	0.09772	-0.9979	0.30507	T	0.006	0.02055	T	9	0.053794503	0.05627	T	0.01151	0.29207	T	0.074	0.21613	0.565	0.68633	0.0675242888579	0.06100	0.17296740151018122	0.17216	.	.	0.451265633106	0.32117	T	0.006723	0.06148	T	-0.274644	0.11244	T	-0.632283	0.10242	T	0.390435785055161	0.28581	T	.	.	.	0.046799	0.07894	0.05908558	0.11029	0.046799	0.07894	0.05908558	0.11029	-2.819	0.08360	T	.	.	0.073	0.04723	B	.	.	0.054253	0.04668	1.318	0.50580859670054135	0.04409	0.80151	0.39866	D	AEFGI	0.414722	0.48387	N	-1.04873149152176	0.07612	0.3542169	-0.921207512785115	0.11594	0.5916112	9.83291363798019E-6	0.01202	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.88	-2.58	0.05866	0.206000	0.17174	-0.901000	0.06991	0.654000	0.53741	0.938000	0.32564	0.000000	0.08366	0.992000	0.67800	0.5037:0.1402:0.3561:0.0	5.929	0.18365	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05	113.06	35	chr7	5919961	.	G	C	113.06	.	AC=2;AF=0.050;AN=40;DP=1724;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.9378;MLEAC=1;MLEAF=0.025;MQ=24.19;QD=31.21;SOR=2.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:124,0:124:99:.:.:0,120,1800	19	1	0	1
chr7	5943410	5943410	C	T	exonic	RSPH10B;RSPH10B2	.	nonsynonymous SNV	RSPH10B2:NM_001099697:exon15:c.G1672A:p.E558K	.	.	435	1078	9	0	0	9	0.00415704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.986	D	0.844	P	0.162	N	1.000	D	2.32	M	0.48	T	-0.514	T	0.270	T	0.369	2.875	15.58	3.38	1.859	3.367	10.598	0.326	0.0660850607106	0.0002	0.000199681	0.0005	0	0.0015	0	0	0.0004	0.0045	0.0006	3.84e-05	1	26028	rs201897178	0.0002	0.0003	0.0002	0.0003	0.0155	0.0002	0.0002	0.0129	0.0119	6.079e-05	0.0011	0	0	0	0.0155	0.0001	0.0004	0.0008	0.0001	0.0001	0.0001	0.0001	0.0003	7.159e-05	5.803e-05	9.13e-05	5.489e-05	0	0	0.0003	0	0	0	0.0136	0.0001	0.0005	0.0002	0.008	0.58626	D	0.019	0.59159	D	0.919	0.50927	P	0.395	0.44317	B	0.161947	0.17635	N	0.519619	0.639816	0.81001	D	2.25	0.63811	M	0.48	0.55945	T	-2.67	0.57110	D	0.628	0.65074	-0.5136	0.68154	T	0.270	0.64109	T	10	0.108860075	0.20283	T	0.066085	0.69770	D	0.326	0.64826	.	.	0.349647731962	0.34572	0.3946435165294966	0.39379	.	.	0.783897995949	0.79517	T	0.017015	0.13954	T	-0.338899	0.05465	T	-0.310022	0.43657	T	0.0971406477475053	0.12039	T	0.834417	0.50357	T	0.2099778	0.43281	0.23349634	0.48541	0.2099778	0.43281	0.23349634	0.48540	-9.408	0.70285	D	.	.	0.207	0.43421	B	.;.;.	.;.;.	4.076322	0.60605	24.2	0.99884102643492667	0.95970	0.90259	0.51294	D	AEFI	0.296539	0.40636	N	0.387759776499367	0.60758	4.268332	0.306870714345566	0.55941	3.757152	1.94391926869574E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.38	3.38	0.37806	3.528000	0.53279	7.451000	0.58961	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.823000	0.38780	0.0:0.8028:0.1972:0.0	10.598	0.44542	889	0.27310	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1238.98	200	chr7	5943410	.	C	T	1238.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.450e-01;DP=2852;ExcessHet=0.0000;FS=0.649;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.81;MQRankSum=-5.560e-01;QD=8.10;ReadPosRankSum=0.073;SOR=0.615	GT:AD:DP:GQ:PL	0/1:100,53:153:99:1253,0,3018	20	0	1	0
chr7	5967037	5967037	T	C	exonic	RSPH10B;RSPH10B2	.	nonsynonymous SNV	RSPH10B2:NM_001099697:exon3:c.A80G:p.D27G	.	.	499	1014	7	2	0	11	0.0053948	.	.	2335252	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.799	P	0.318	B	0.190	N	1.000	N	0.895	L	0.52	T	-0.971	T	0.132	T	0.197	2.388	13.94	3.07	0.366	0.548	7.521	0.046	0.0259481320236	0.0002	.	0.0007	0	0.0024	0	0	0.0007	0.0041	0.0007	3.84e-05	1	26028	rs201581470	0.0004	0.0003	0.0003	0.0004	0.0197	0.0003	0.0003	0.0165	0.0153	0.0001	0.0013	0	0	0	0.0197	0.0002	0.0005	0.0010	8.235e-05	0.0001	7.875e-05	8.628e-05	0.0002	2.72e-05	1.693e-05	1.581e-05	6.53e-06	0	0	0.0002	0	0	0	0.0147	8.953e-05	0	0	0.01	0.56456	D	0.039	0.51112	D	0.799	0.44910	P	0.318	0.41660	B	0.190453	0.03246	N	1.685050	1	0.08975	N	1.04	0.26193	L	0.52	0.55266	T	-2.73	0.58085	D	0.112	0.09914	-0.9705	0.37094	T	0.132	0.44386	T	10	0.018380255	0.00399	T	0.025948	0.48891	D	0.046	0.12618	.	.	0.244539031024	0.24083	0.2762730336732364	0.27540	.	.	0.41863566637	0.27649	T	0.052736	0.29245	T	-0.447621	0.01166	T	-0.498785	0.22475	T	0.0510102409200706	0.05677	T	0.713029	0.32487	T	0.17294878	0.38015	0.18324561	0.41302	0.17294878	0.38014	0.18324561	0.41301	-4.628	0.32521	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	1.764643	0.22442	15.62	0.97884187324811822	0.36621	0.03731	0.09026	N	AEFGI	0.050594	0.08858	N	-0.510871225375725	0.21727	1.155218	-0.604990627600514	0.19364	1.038623	2.18227362011084E-4	0.05997	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.48	3.07	0.34476	0.181000	0.16691	3.344000	0.37731	0.644000	0.52426	0.000000	0.06391	1.000000	0.68203	0.421000	0.27250	0.0:0.075:0.1426:0.7824	7.521	0.26797	878	0.29785	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02632	1039.71	33	chr7	5967037	.	T	C	1039.71	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.160e+00;DP=769;ExcessHet=0.0000;FS=3.617;InbreedingCoeff=-0.0270;MLEAC=1;MLEAF=0.026;MQ=33.08;MQRankSum=-6.900e-02;QD=10.40;ReadPosRankSum=-9.690e-01;SOR=0.363	GT:AD:DP:GQ:PL	0/1:56,44:100:99:1053,0,1409	18	0	1	2
chr7	5977677	5977677	G	T	exonic	PMS2	.	nonsynonymous SNV	PMS2:NM_001322008:exon12:c.C2038A:p.L680M	Colorectal cancer, hereditary nonpolyposis, type 4;Mismatch repair cancer syndrome, Autosomal recessive	.	3	1500	18	1	0	20	0.00662252	.	.	152135	not_specified|Hereditary_nonpolyposis_colorectal_neoplasms|Lynch_syndrome_4|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided	MedGen:CN169374|MeSH:D003123,MedGen:C0009405|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337,Orphanet:144|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN221562|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.21	T	0.875	P	0.612	P	0.001	D	1.000	D	1.625	L	-1.25	T	-0.313	T	0.443	T	0.346	2.287	13.60	2.71	0.792	2.791	8.409	0.183	0.079108534385	.	0.00179712	0.0013	0	0.0003	0.0001	0	4.587e-05	0.0011	0.0088	0.0010414	161	154602	rs576055272	0.0007	0.0007	0.0004	0.0010	0.0099	0.0007	0.0006	0.0094	0.0091	3.005e-05	8.953e-05	0	7.603e-05	0	0.0014	9.753e-05	0.0005	0.0099	0.0003	0.0004	0.0001	0.0005	0.0085	0.0002	0.0002	0.0064	0.0057	4.883e-05	0	6.616e-05	0	0	0	0	2.967e-05	0	0.0085	0.113	0.39097	T	0.236	0.27943	T	0.708	0.48103	P	0.612	0.51145	P	0.000660	0.42656	D	0.159962	0.999896	0.54805	D	2.405	0.69568	M	-1.25	0.79072	T	-1.09	0.29323	N	0.404	0.47949	-0.3130	0.74620	T	0.443	0.78057	T	10	0.014594287	0.00307	T	0.079109	0.73159	D	0.381	0.69863	0.703	0.83962	0.775873742492	0.77381	0.6712287808671197	0.67060	2.88529838353	0.99071	0.697431862354	0.66773	T	0.117806	0.43816	T	-0.30993	0.07753	T	-0.211855	0.53518	T	0.0270175553033138	0.01546	T	0.79622	0.45008	T	0.1333054	0.31011	0.13922463	0.33227	0.12227543	0.28736	0.10825066	0.26072	-10.052	0.79472	D	0.3203664013593527	0.41848	0.211	0.45520	B	.;.;.;.;.;.	.;.;.;.;.;.	3.386400	0.46868	22.4	0.98301176528024992	0.40049	0.91240	0.53135	D	AEFDGBI	0.330356	0.43042	N	-0.138962391370679	0.35706	2.054319	-0.0400214752297801	0.37925	2.227243	0.00352193332976808	0.10159	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.75	2.71	0.31092	2.861000	0.48079	5.513000	0.48803	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.153:0.0:0.6948:0.1522	8.409	0.31791	889	0.27310	MutL, C-terminal, dimerisation|MutL, C-terminal, dimerisation;MutL, C-terminal, dimerisation|MutL, C-terminal, dimerisation;MutL, C-terminal, dimerisation|MutL, C-terminal, dimerisation;MutL, C-terminal, dimerisation|MutL, C-terminal, dimerisation;MutL, C-terminal, dimerisation|MutL, C-terminal, dimerisation;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	3346.98	35	chr7	5977677	.	G	T	3346.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.384e+00;DP=1052;ExcessHet=0.0000;FS=2.917;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=41.58;MQRankSum=-3.973e+00;QD=9.59;ReadPosRankSum=1.37;SOR=0.863	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1280	20	0	1	0
chr7	5986829	5986829	T	C	exonic	PMS2	.	nonsynonymous SNV	PMS2:NM_001322008:exon9:c.A1618G:p.R540G	Colorectal cancer, hereditary nonpolyposis, type 4;Mismatch repair cancer syndrome, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	833743	Lynch_syndrome_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms	MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337,Orphanet:144|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MeSH:D003123,MedGen:C0009405	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	1.0	D	0.999	D	0.000	D	1.000	D	2.295	M	0.97	T	-0.734	T	0.238	T	0.921	2.673	14.90	3.33	0.421	2.214	12.597	0.355	0.117213935038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.65419	D	0.048	0.48594	D	0.979	0.90584	D	0.833	0.92359	P	0.000000	0.84330	D	0.000000	0.999919	0.81001	D	2.81	0.81869	M	0.97	0.42502	T	-4.54	0.81107	D	0.844	0.83987	-0.7335	0.58786	T	0.238	0.60607	T	10	0.3921356	0.54967	T	0.117214	0.79693	D	0.355	0.67600	0.373	0.38503	0.723048560196	0.72059	0.5959563753458492	0.59525	0.296104068149	0.31993	0.388001412153	0.23389	T	0.316536	0.68806	T	0.226339	0.76376	D	0.0873442	0.76068	D	0.981092631816864	0.73718	D	0.906909	0.67118	D	0.5796098	0.71587	0.39073834	0.63862	0.5796098	0.71588	0.39073834	0.63862	-10.463	0.76634	D	0.5979010227625151	0.66483	0.472	0.69534	A	.;.;.;.;.	.;.;.;.;.	3.301441	0.45322	22.1	0.99713166144396814	0.81493	0.91004	0.52673	D	AEFBI	0.309300	0.41564	N	0.205505879174559	0.51465	3.327566	0.0894206663040702	0.44013	2.691503	3.52874101178162E-4	0.06668	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.82	3.33	0.37245	2.102000	0.41421	1.587000	0.27508	0.661000	0.55757	0.990000	0.36992	0.996000	0.32793	0.832000	0.39227	0.0:0.0:0.4029:0.5971	12.597	0.55833	884	0.28482	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1203.98	33	chr7	5986829	.	T	C	1203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.250e+00;DP=812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.54;MQRankSum=-4.000e-02;QD=13.23;ReadPosRankSum=-1.235e+00;SOR=0.787	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	20	0	1	0
chr7	5992008	5992008	T	C	exonic	PMS2	.	nonsynonymous SNV	PMS2:NM_001322008:exon7:c.A635G:p.Y212C	Colorectal cancer, hereditary nonpolyposis, type 4;Mismatch repair cancer syndrome, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	50161	not_provided|Malignant_tumor_of_breast|Hereditary_cancer-predisposing_syndrome|PMS2-related_disorder|Lynch_syndrome_4|not_specified|Hereditary_nonpolyposis_colorectal_neoplasms	MedGen:C3661900|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|.|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337,Orphanet:144|MedGen:CN169374|MeSH:D003123,MedGen:C0009405	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.981	D	0.000	D	1.000	D	2.875	M	-1.99	D	0.697	D	0.774	D	0.877	3.207	16.74	5.4	2.045	7.667	15.412	0.832	0.0454776446971	0.0004	0.000199681	0.0004	0	0.0005	0	0	0.0004	0.0034	0.0003	0.0002846	44	154602	rs139438201	0.0002	0.0002	0.0002	0.0003	0.0003	0.0002	0.0002	0.0003	0.0002	0	0.0002	0.0071	0	0	0.0003	4.727e-05	0.0007	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	2.846e-05	1.858e-05	4.811e-05	0	0.0001	0.0055	0	0	0	7.349e-05	0.0009	0	0.024	0.61437	D	0.06	0.45744	T	1.0	0.90584	D	0.981	0.75168	D	0.000055	0.53742	D	0.130172	1	0.81001	D	3.365	0.91266	M	-1.99	0.85320	D	-7.1	0.93974	D	0.94	0.94668	0.697	0.93141	D	0.774	0.92325	D	10	0.04951796	0.04552	T	0.045478	0.61998	D	0.832	0.94691	.	.	0.923305348147	0.92252	0.630275955280824	0.62961	0.293512613635	0.31773	0.763504803181	0.76452	T	0.639538	0.88928	D	0.159248	0.70130	D	0.327231	0.89396	D	0.206025939645237	0.20744	T	0.961304	0.89491	D	0.828623	0.85807	0.7100386	0.82897	0.91380346	0.92653	0.7608746	0.85872	-14.104	0.93389	D	0.6167088525677732	0.68471	0.335	0.62874	B	.;.;.;.;.	.;.;.;.;.	5.159714	0.86445	28.9	0.99658063480598968	0.77757	0.99609	0.97952	D	AEFGBI	0.892392	0.82928	D	0.497969895187631	0.66970	5.019781	0.418689667694996	0.62730	4.493386	0.999995368215801	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.4	5.4	0.77957	7.674000	0.83146	7.756000	0.68219	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:0.0:1.0	15.412	0.74652	878	0.29785	DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein family, N-terminal;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	1955.98	34	chr7	5992008	.	T	C	1955.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.891;DP=898;ExcessHet=0.0000;FS=2.763;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.33;MQRankSum=1.03;QD=12.15;ReadPosRankSum=0.303;SOR=0.934	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,105,1575	20	0	1	0
chr7	6036129	6036129	C	A	exonic	ANKRD61	.	nonsynonymous SNV	ANKRD61:NM_001271700:exon3:c.C1000A:p.L334I,	.	.	431	1064	27	0	0	27	0.012529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.000	D	1.000	D	.	.	1.06	T	-0.955	T	0.091	T	0.669	1.710	11.68	3.71	0.691	0.060	8.519	0.219	.	.	0.00359425	0.0056	0.0021	0.0102	0.0021	0.0141	0.0103	0.0095	0.0008	0.0020246	313	154602	rs117715040	0.0089	0.0085	0.0090	0.0087	0.0130	0.0087	0.0087	0.0106	0.0097	0.0011	0.0058	0.0141	2.798e-05	0.0146	0.0130	0.0097	0.0083	0.0008	0.0064	0.0064	0.0062	0.0067	0.0084	0.0061	0.0060	0.0078	0.0076	0.0022	0.0033	0.0041	0.0156	0.0002	0.0160	0.0408	0.0084	0.0062	0.0008	0.0	0.91255	D	0.02	0.58613	D	.	.	.	.	.	.	0.000277	0.46590	D	0.000000	0.999825	0.49512	D	2.75	0.80375	M	1.06	0.39781	T	-1.15	0.29525	N	0.431	0.47022	-0.9550	0.40096	T	0.091	0.34955	T	7	0.009520173	0.00215	T	.	.	.	0.219	0.51417	.	.	0.146414634003	0.14194	0.4042201142318326	0.40338	.	.	0.525072216988	0.42340	T	0.016966	0.13922	T	-0.250482	0.14039	T	-0.121545	0.61675	T	0.113345832179516	0.13767	T	0.522448	0.17034	T	0.43481648	0.63067	0.5732601	0.75283	0.43481648	0.63068	0.5732601	0.75284	-6.161	0.47607	T	.	.	0.171	0.37558	B	.	.	2.106957	0.26808	17.25	0.99352550740671919	0.60656	0.82184	0.41451	D	AEFBI	0.143616	0.26636	N	-0.231731538815071	0.31839	1.789343	-0.304273811030339	0.27961	1.555316	0.023710298744365	0.13526	0.372202	0.05800	0	0.546412	0.12157	0	0.463624	0.06942	0	0.714379	0.83352	0	.	.	5.49	3.71	0.41733	0.079000	0.14636	.	.	0.599000	0.40250	0.919000	0.31930	0.000000	0.08366	0.091000	0.17840	0.0:0.7441:0.0:0.2559	8.519	0.32423	692	0.58729	Ankyrin repeat-containing domain	PMS2|CCZ1B	Skin_Not_Sun_Exposed_Suprapubic|Whole_Blood	CCZ1B|CCZ1B	Adipose_Subcutaneous|Skin_Not_Sun_Exposed_Suprapubic	rs117715040	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2097.98	35	chr7	6036129	.	C	A	2097.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.833e+00;DP=899;ExcessHet=0.0000;FS=0.535;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=-2.920e-01;SOR=0.765	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1235	20	0	1	0
chr7	6149841	6149841	C	G	exonic	USP42	.	nonsynonymous SNV	USP42:NM_001365764:exon13:c.C1645G:p.P549A	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.001	B	0.002	B	0.090	N	1.000	N	1.7	L	2.96	T	-0.937	T	0.025	T	0.17	-0.216	2.955	0.986	-0.081	0.231	6.207	0.052	0.00440850444925	8.3e-05	.	0.0002	0.0002	8.643e-05	0.0005	0	4.496e-05	0	0.0007	0.0001488	23	154602	rs201918410	9.167e-05	9.235e-05	6.534e-05	0.0001	0.0007	7.891e-05	7.366e-05	0.0006	0.0005	0.0002	0.0002	0	0.0004	0	0.0003	3.687e-05	0	0.0007	0.0001	0.0001	0.0002	0.0001	0.0006	9.141e-05	7.698e-05	0.0002	0.0001	0.0003	0	0	0	0.0004	0	0	4.409e-05	0	0.0006	0.264	0.16358	T	0.555	0.09267	T	0.0	0.02946	B	0.002	0.06944	B	0.090380	0.20379	N	0.491622	1	0.08975	N	2.3	0.65703	M	2.54	0.13916	T	-2.42	0.58407	N	0.126	0.11912	-0.9373	0.43041	T	0.025	0.10553	T	10	0.020745367	0.00483	T	0.004409	0.10781	T	0.052	0.14661	.	.	0.0934897674506	0.08844	0.27593550561854074	0.27506	0.0616128790584	0.06866	0.242485046387	0.03018	T	0.04613	0.27331	T	-0.528319	0.00393	T	-0.625585	0.10751	T	0.0196006885629951	0.00663	T	0.327067	0.08068	T	.	.	.	.	.	.	.	.	-3.196	0.12432	T	.	.	0.058	0.03093	B	.;.	.;.	-0.410686	0.02174	0.213	0.47822997118121541	0.03941	0.32433	0.24584	N	AEFDGBI	0.053984	0.09777	N	-1.31060736105724	0.03553	0.1589205	-1.30673189470729	0.04342	0.2046237	0.0526786839556323	0.14914	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.93	0.986	0.18902	0.335000	0.19546	.	.	-2.124000	0.00384	0.003000	0.16062	0.000000	0.08366	0.606000	0.31539	0.1026:0.5762:0.2043:0.1169	6.207	0.19819	618	0.66225	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1744.98	33	chr7	6149841	.	C	G	1744.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.192;DP=841;ExcessHet=0.0000;FS=2.047;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=-4.250e-01;SOR=0.762	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1248	20	0	1	0
chr7	6330718	6330718	G	A	exonic	FAM220A	.	nonsynonymous SNV	FAM220A:NM_001037163:exon2:c.C437T:p.P146L,	.	.	411	1097	14	0	0	14	0.00634058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.007	B	0.005	B	0.919	N	1.000	N	0.55	N	3.23	T	-0.927	T	0.010	T	0.134	3.690	18.75	-3.22	-0.472	-2.194	4.092	0.049	0.00344751853347	0.0016	0.00139776	0.0010	0.0048	0.0005	0	0	0.0007	0.0022	0.0009	0.0009961	154	154602	rs75910050	0.0008	0.0008	0.0008	0.0008	0.0220	0.0008	0.0008	0.0189	0.0177	0.0066	0.0011	0.0005	2.519e-05	0	0.0220	0.0005	0.0022	0.0008	0.0021	0.0021	0.0021	0.0021	0.0053	0.0019	0.0018	0.0047	0.0045	0.0053	0	0.0012	0.0006	0	0	0.0034	0.0010	0.0028	0.0008	0.408	0.10212	T	0.468	0.12316	T	0.007	0.14184	B	0.005	0.11217	B	0.919104	0.08499	N	0.950055	1	0.08975	N	0.55	0.14455	N	3.23	0.06931	T	-2.74	0.58248	D	0.106	0.09066	-0.9274	0.44516	T	0.010	0.03765	T	10	0.0046599805	0.00098	T	0.003448	0.07786	T	0.049	0.13647	.	.	0.104622674875	0.10061	0.04310566517497903	0.04255	0.0417253464101	0.04484	0.242958009243	0.03063	T	0.001488	0.00934	T	-0.668667	0.00056	T	-0.732042	0.04236	T	0.00722983047872792	0.00083	T	0.548745	0.18852	T	0.027243165	0.01890	0.047713682	0.06934	0.027243165	0.01890	0.047713682	0.06933	-3.466	0.15959	T	.	.	0.125	0.26482	B	.;.	.;.	0.233142	0.06140	2.588	0.98839569530909077	0.47102	0.02741	0.07418	N	AEFBI	0.051587	0.09128	N	-1.23948508893055	0.04439	0.2003722	-1.23595987054278	0.05342	0.2543025	2.40447898683566E-4	0.06095	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.18	-3.22	0.04808	-1.862000	0.01745	.	.	0.654000	0.53741	0.000000	0.06391	0.000000	0.08366	0.516000	0.29383	0.0958:0.4499:0.1961:0.2582	4.092	0.09448	873	0.30802	SIPAR domain;SIPAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	1758.33	35	chr7	6330718	.	G	A	1758.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.44;DP=2618;ExcessHet=0.0000;FS=1.199;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=9.88;ReadPosRankSum=1.91;SOR=0.570	GT:AD:DP:GQ:PL	0/0:216,0:216:99:0,120,1800	19	0	1	1
chr7	6410009	6410009	T	C	exonic	DAGLB	.	nonsynonymous SNV	DAGLB:NM_001142936:exon13:c.A1460G:p.Y487C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.992	D	0.000	D	1.000	D	2.8	M	0.3	T	0.060	D	0.477	T	0.879	5.210	33	5.51	2.095	5.701	15.660	0.621	0.118559856566	7.7e-05	.	2.5e-05	0	0	0	0	4.538e-05	0	0	1.94e-05	3	154602	rs138947170	3.421e-05	3.42e-05	4.493e-05	2.338e-05	3.957e-05	2.632e-05	2.375e-05	2.999e-05	2.671e-05	0	0	0	2.519e-05	0	0	3.957e-05	8.28e-05	0	5.908e-05	5.905e-05	3.854e-05	8.056e-05	0.0002	3.075e-05	2.208e-05	3.762e-05	2.575e-05	4.81e-05	0	0	0	0.0002	0	0	8.819e-05	0	0	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.999601	0.81001	D	2.89	0.83701	M	0.03	0.62183	T	-6.7	0.93764	D	0.927	0.93135	0.060	0.83441	D	0.477	0.79956	T	10	0.7992803	0.79354	D	0.11856	0.79864	D	0.621	0.85301	.	.	0.893838339602	0.89279	0.8386893109478375	0.83828	0.362721336408	0.37921	0.573935985565	0.49234	T	0.641155	0.88998	D	0.229835	0.76706	D	0.200022	0.83129	D	0.944382965564728	0.62050	D	0.864214	0.56114	D	0.6619226	0.76002	0.54229903	0.73546	0.6619226	0.76003	0.54229903	0.73546	-9.545	0.72778	D	.	.	0.288	0.56579	B	.;.;.	.;.;.	4.953905	0.81849	27.6	0.99674928360825166	0.78846	0.93667	0.58849	D	AEFDGBCI	0.678911	0.64312	D	0.643808392405575	0.75968	6.400761	0.543210447452067	0.70928	5.577663	0.999999998822519	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.51	5.51	0.81769	5.730000	0.68193	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:0.0:1.0	15.660	0.76937	824	0.40336	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2199.98	35	chr7	6410009	.	T	C	2199.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.39;DP=961;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.67;ReadPosRankSum=1.58;SOR=0.693	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1459	20	0	1	0
chr7	6430565	6430565	T	G	exonic	DAGLB	.	nonsynonymous SNV	DAGLB:NM_139179:exon6:c.A844C:p.M282L,	.	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.651	P	0.116	B	0.000	D	1.000	D	1.87	L	0.88	T	-1.061	T	0.080	T	0.795	3.508	17.93	3.98	2.055	5.554	11.470	0.197	.	7.7e-05	0.00599042	0.0039	0	0.0003	0.0001	0	0	0	0.0279	0.0031177	482	154602	rs368662898	0.0015	0.0015	0.0008	0.0021	0.0233	0.0014	0.0014	0.0224	0.0221	0.0001	6.79e-05	0	0	0	0.0003	2.623e-05	0.0016	0.0233	0.0008	0.0008	0.0005	0.0010	0.0236	0.0007	0.0006	0.0201	0.0188	7.228e-05	0	6.564e-05	0	0	0	0	2.942e-05	0	0.0236	0.009	0.57480	D	0.031	0.53788	D	0.512	0.37351	P	0.102	0.30857	B	0.000000	0.84330	D	0.041945	0.999951	0.81001	D	2.16	0.60381	M	0.88	0.46412	T	-1.92	0.47683	N	0.73	0.73105	-1.0609	0.11532	T	0.080	0.31556	T	10	0.007727146	0.00175	T	.	.	.	0.197	0.47942	0.612	0.74535	0.312001716656	0.30816	0.7069166920994722	0.70633	0.0508659047656	0.05589	0.508673071861	0.40037	T	0.171103	0.51909	T	-0.239216	0.15449	T	-0.0967969	0.63645	T	0.0606021324751123	0.07263	T	0.882612	0.60317	D	0.41977805	0.62077	0.43101916	0.66733	0.41977805	0.62077	0.43101916	0.66733	-9.478	0.70722	D	.	.	0.206	0.50952	B	.;.	.;.	2.995884	0.40013	21.1	0.9637306883594704	0.29590	0.92000	0.54724	D	AEFDGBHCI	0.634867	0.61458	D	0.0988441823876177	0.46409	2.881648	0.192421464973082	0.49431	3.146352	0.999999988898378	0.74766	0.712529	0.81865	0	0.653731	0.59785	0	0.779548	0.98927	0	0.691587	0.68394	0	.	.	5.15	3.98	0.45383	5.583000	0.67179	.	.	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0745:0.0:0.9255	11.470	0.49508	753	0.51500	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	551.98	34	chr7	6430565	.	T	G	551.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.630e-01;DP=755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=-1.182e+00;SOR=0.708	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1074	20	0	1	0
chr7	6594580	6594580	C	T	exonic	C7orf26	.	nonsynonymous SNV	C7orf26:NM_001303039:exon3:c.C503T:p.A168V	.	.	435	1076	11	0	0	11	0.00508553	.	.	3264294	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.987	D	0.511	P	0.000	D	1.000	D	1.79	L	0.89	T	-0.851	T	0.142	T	0.577	2.923	15.74	4.93	2.655	4.862	16.452	0.220	0.0110526678689	0.0007	0.000599042	0.0008	0.0009	0.0016	0	0.0003	0.0008	0.0033	0.0005	0.0007115	110	154602	rs35427124	0.0005	0.0005	0.0004	0.0005	0.0172	0.0005	0.0004	0.0144	0.0134	0.0005	0.0013	0.0021	0	5.624e-05	0.0172	0.0003	0.0007	0.0011	0.0004	0.0004	0.0004	0.0005	0.0006	0.0004	0.0003	0.0004	0.0004	0.0006	0	0.0005	0.0020	0	9.43e-05	0.0136	0.0002	0.0005	0.0006	0.1	0.33923	T	0.063	0.45110	T	0.987	0.61912	D	0.511	0.47948	P	0.000002	0.62929	D	0.100882	0.999996	0.58761	D	0.69	0.16971	N	0.89	0.45636	T	-1.51	0.39692	N	0.25	0.38438	-0.8513	0.51878	T	0.142	0.46239	T	10	0.027013034	0.00855	T	0.011053	0.28270	T	0.220	0.51569	.	.	0.202312658747	0.19855	0.4020047128335823	0.40116	0.154366644916	0.17432	.	.	.	0.046447	0.27428	T	-0.356078	0.04357	T	-0.32981	0.41489	T	0.0291930333770117	0.01867	T	0.911109	0.68490	D	0.12707783	0.29748	0.10479889	0.25179	0.12707783	0.29747	0.10479889	0.25178	-4.304	0.28232	T	.	.	0.121	0.35643	B	.;.	.;.	2.401225	0.30853	18.56	0.99441128259015299	0.64770	0.98517	0.83624	D	AEFBI	0.514344	0.54176	D	0.325756734542429	0.57474	3.914847	0.266532639509435	0.53596	3.527731	0.999998950600494	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.93	4.93	0.64394	4.915000	0.63054	.	.	0.576000	0.29215	1.000000	0.71638	0.999000	0.35428	0.126000	0.19410	0.0:1.0:0.0:0.0	16.452	0.83838	836	0.38045	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1140.98	35	chr7	6594580	.	C	T	1140.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.749;DP=774;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.91;ReadPosRankSum=0.00;SOR=0.741	GT:AD:DP:GQ:PL	0/1:35,47:82:99:1155,0,722	20	0	1	0
chr7	6622246	6622246	G	A	exonic	ZNF853	.	nonsynonymous SNV	ZNF853:NM_001353546:exon3:c.G1210A:p.A404T	.	.	430	1080	12	0	0	12	0.00552486	.	.	3358536	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230554265019	.	.	0.0015	0	0	0	0	0.0033	0	0.0011	0.0001552	24	154602	rs775989861	0.0004	0.0004	0.0003	0.0004	0.0103	0.0003	0.0003	0.0078	0.0069	0.0004	0.0011	0.0022	0	0	0.0103	0.0002	0.0008	0.0011	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	7.215e-05	0	0.0005	0.0020	0	0	0.0137	0.0002	0.0005	0.0006	0.019	0.50132	D	0.631	0.07173	T	0.417	0.35244	B	0.055	0.25995	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.1	0.08283	T	-0.88	0.23808	N	0.091	0.06990	.	.	.	.	.	.	.	0.00966388	0.00217	T	0.230554	0.88236	D	.	.	.	.	0.428401797576	0.42457	0.21968417619730124	0.21884	0.0190438721776	0.01855	0.820012390614	0.85029	D	0.002531	0.01924	T	-0.623305	0.00105	T	-0.718551	0.04866	T	.	.	.	0.420658	0.11177	T	0.04191182	0.06261	0.05183109	0.08422	0.04191182	0.06261	0.05183109	0.08421	-5.807	0.44635	T	.	.	0.127	0.27039	B	.	.	2.055653	0.26134	17.01	0.96864014166363699	0.31392	0.11651	0.16773	N	AEFDBCI	0.072019	0.14358	N	.	.	.	.	.	.	0.550249490816514	0.21327	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.11	-0.00402	0.13346	0.373000	0.20215	.	.	0.580000	0.29708	0.002000	0.15269	0.000000	0.08366	0.034000	0.13613	0.1293:0.4368:0.4339:0.0	5.213	0.14651	773	0.48803	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	657.99	27	chr7	6622246	.	G	A	657.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.980e-01;DP=601;ExcessHet=0.0000;FS=1.186;InbreedingCoeff=-0.0252;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.30;ReadPosRankSum=-2.890e-01;SOR=0.922	GT:AD:DP:GQ:PL	0/1:16,27:43:99:672,0,371	20	0	1	0
chr7	6622871	6622871	G	T	exonic	ZNF853	.	nonsynonymous SNV	ZNF853:NM_001353546:exon3:c.G1835T:p.G612V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557523388242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.026	0.55759	D	0.901	0.49677	P	0.533	0.48638	P	.	.	.	.	0.901332	0.36179	D	0.55	0.14455	N	3.05	0.08721	T	-2.02	0.46503	N	0.357	0.39861	.	.	.	.	.	.	.	0.25692713	0.43102	T	0.557523	0.95947	D	.	.	.	.	0.352693368174	0.34879	0.18073273636266163	0.17992	0.00785771137959	0.00710	0.885843455791	0.94733	D	0.059163	0.31041	T	-0.107098	0.35250	T	-0.391615	0.34362	T	.	.	.	0.360864	0.08314	T	0.15235396	0.34589	0.23871364	0.49201	0.15235396	0.34589	0.23871364	0.49200	-5.177	0.38707	T	.	.	0.303	0.53198	B	.	.	2.886094	0.38205	20.7	0.98092101855553937	0.38197	0.80423	0.40065	D	AEFBCI	0.097768	0.19713	N	.	.	.	.	.	.	0.511520226825707	0.21023	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.7	3.7	0.41607	0.371000	0.20182	.	.	0.559000	0.28343	0.000000	0.06391	1.000000	0.68203	0.009000	0.08673	0.0:0.0:1.0:0.0	11.230	0.48140	773	0.48803	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	360.03	14	chr7	6622871	.	G	T	360.03	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=453;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0277;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.36;ReadPosRankSum=1.22;SOR=0.976	GT:AD:DP:GQ:PL	0/0:29,0:29:81:0,81,1215	20	0	1	0
chr7	6757850	6757850	A	G	exonic	RSPH10B;RSPH10B2	.	nonsynonymous SNV	RSPH10B2:NM_001099697:exon3:c.A173G:p.K58R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.012	B	0.009	B	0.706	N	1.000	N	0.55	N	0.49	T	-1.023	T	0.085	T	0.05	0.787	8.149	1.45	0.265	1.290	5.890	0.019	0.00275116685414	.	.	1.717e-05	0	0	0	0	1.526e-05	0.0012	0	3.84e-05	1	26028	rs774500350	1.318e-05	1.302e-05	6.902e-06	1.953e-05	1.364e-05	8.43e-06	6.8e-06	8.19e-06	6.49e-06	0	0	0	0	0	0	1.364e-05	6.751e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	0.16738	T	0.409	0.18071	T	0.012	0.16265	B	0.009	0.14300	B	0.705897	0.10054	N	0.857773	1	0.08975	N	0.55	0.14455	N	0.49	0.55775	T	-1.06	0.55181	N	0.074	0.07125	-1.0234	0.22606	T	0.085	0.33071	T	10	0.058695823	0.06939	T	0.002751	0.05694	T	0.019	0.03383	0.289	0.24921	0.0138822411134	0.00435	0.11918721536821006	0.11845	.	.	0.392861962318	0.24072	T	0.003421	0.02829	T	-0.331128	0.06027	T	-0.643581	0.09410	T	0.0247739032828162	0.01243	T	0.29957	0.12454	T	0.032041874	0.03156	0.041214988	0.04634	0.032041874	0.03156	0.041214988	0.04634	-4.352	0.28900	T	.	.	0.069	0.03197	B	.;.;.;.	.;.;.;.	0.580414	0.09490	6.267	0.90891100885274378	0.20140	0.01627	0.05251	N	AEGI	0.042858	0.06702	N	-1.07053823786557	0.07191	0.3332961	-1.11530340663299	0.07407	0.3601967	8.40863297621524E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.65	1.45	0.21708	1.348000	0.33592	.	.	0.353000	0.19991	0.058000	0.21700	0.000000	0.08366	0.139000	0.19909	0.8574:0.0:0.1426:0.0	5.890	0.18149	889	0.27310	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2384.15	40	chr7	6757850	.	A	G	2384.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.169e+00;DP=1061;ExcessHet=0.0000;FS=2.976;InbreedingCoeff=-0.0329;MLEAC=1;MLEAF=0.024;MQ=41.17;MQRankSum=-4.006e+00;QD=6.93;ReadPosRankSum=1.79;SOR=0.792	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr7	7444455	7444455	G	A	exonic	COL28A1	.	nonsynonymous SNV	COL28A1:NM_001037763:exon19:c.C1544T:p.P515L,	.	.	419	1082	20	1	0	22	0.010064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.94	P	0.618	P	0.006	U	0.998	D	2.35	M	-3.18	D	0.763	D	0.820	D	0.288	4.156	21.5	4.97	2.775	1.870	13.955	0.461	.	0.0007	0.00519169	0.0027	0.0001	0.0015	0	0	0.0010	0	0.0148	0.002542	393	154602	rs79817423	0.0014	0.0014	0.0010	0.0018	0.0132	0.0013	0.0013	0.0126	0.0123	0.0001	0.0013	0.0016	2.52e-05	1.872e-05	0.0078	0.0006	0.0018	0.0132	0.0009	0.0009	0.0008	0.0009	0.0108	0.0007	0.0007	0.0085	0.0076	9.637e-05	0	0.0010	0.0017	0.0002	0	0	0.0008	0.0005	0.0108	0.005	0.63226	D	0.005	0.72224	D	0.94	0.52768	P	0.618	0.51338	P	0.006264	0.32150	U	0.187188	0.998106	0.44513	D	3.015	0.86134	M	-3.18	0.93111	D	-4.63	0.79229	D	0.52	0.55019	0.763	0.93950	D	0.820	0.93937	D	10	0.014444113	0.00304	T	.	.	.	0.461	0.75822	.	.	0.559272228206	0.55588	0.2804639588204206	0.27959	0.222033821018	0.24739	0.488252490759	0.37196	T	0.075217	0.35126	T	-0.239887	0.15363	T	-0.105681	0.62955	T	0.0793143822256825	0.09898	T	0.818018	0.47523	T	0.20986126	0.43266	0.22678195	0.47667	0.20986126	0.43266	0.22678195	0.47666	-8.064	0.61506	D	.	.	0.079	0.07365	B	.	.	4.319661	0.66095	24.9	0.99878775021223887	0.95491	0.57344	0.30352	D	AEFBI	0.297676	0.40720	N	0.407551771385356	0.61836	4.390313	0.405122821041497	0.61881	4.394843	0.997649383513343	0.35855	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.635259	0.50027	0	.	.	4.97	4.97	0.65419	2.364000	0.43840	8.043000	0.76323	0.676000	0.76740	0.974000	0.34632	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	13.955	0.63653	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	781.98	34	chr7	7444455	.	G	A	781.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.510e-01;DP=784;ExcessHet=0.0000;FS=0.798;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.59;ReadPosRankSum=0.335;SOR=0.814	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1355	20	0	1	0
chr7	7444474	7444474	T	C	exonic	COL28A1	.	nonsynonymous SNV	COL28A1:NM_001037763:exon19:c.A1525G:p.I509V,	.	.	417	1096	8	1	0	10	0.00454133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.001	B	0.132	N	1.000	N	0.015	N	-3.18	D	-0.393	T	0.562	D	0.053	0.099	4.531	-2.03	-0.474	-0.260	10.807	0.294	.	0.0003	0.00539137	0.0027	0.0005	0.0002	0	0.0003	1.499e-05	0.0022	0.0190	0.0023027	356	154602	rs372365805	0.0011	0.0011	0.0006	0.0017	0.0182	0.0011	0.0011	0.0174	0.0171	0.0006	4.472e-05	0	0	3.744e-05	0.0007	2.968e-05	0.0007	0.0182	0.0008	0.0008	0.0006	0.0009	0.0185	0.0006	0.0006	0.0154	0.0142	0.0006	0	0	0	0	0	0	1.47e-05	0	0.0185	0.398	0.10553	T	0.412	0.14456	T	0.0	0.02946	B	0.001	0.04355	B	0.132439	0.02819	N	1.972690	1	0.08975	N	0.415	0.12483	N	-3.18	0.93111	D	0.36	0.03700	N	0.075	0.04913	-0.3925	0.72263	T	0.562	0.84054	D	10	0.00735566	0.00167	T	.	.	.	0.294	0.61388	.	.	0.323342291347	0.31936	0.051599969736774665	0.05101	0.0265829955864	0.02714	0.258846521378	0.04754	T	0.001054	0.00580	T	-0.484644	0.00695	T	-0.454654	0.27185	T	0.00229817729409317	0.00024	T	0.49835	0.15517	T	0.024283469	0.01244	0.035080645	0.02692	0.024283469	0.01243	0.035080645	0.02692	-2.994	0.10116	T	.	.	0.057	0.00543	B	.	.	0.817050	0.11882	8.447	0.43170089024790115	0.03232	0.01364	0.04664	N	AEFBI	0.065825	0.12859	N	-1.56319649827282	0.01459	0.0636691	-1.50572417400609	0.02300	0.1055465	0.107350637659975	0.16553	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.635259	0.50027	0	.	.	4.91	-2.03	0.06959	-0.004000	0.12813	-0.971000	0.06745	-0.705000	0.03985	0.007000	0.17678	0.000000	0.08366	0.922000	0.45779	0.0:0.5066:0.0:0.4934	10.807	0.45723	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1313.98	34	chr7	7444474	.	T	C	1313.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.280e-01;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=1.11;SOR=0.710	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1355	20	0	1	0
chr7	7531484	7531484	C	T	exonic	COL28A1	.	nonsynonymous SNV	COL28A1:NM_001037763:exon3:c.G545A:p.G182E,	.	.	436	1073	13	0	0	13	0.00602131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.977	D	0.153	U	1.000	D	1.83	L	-0.07	T	-0.289	T	0.373	T	0.928	3.751	19.05	3.3	1.111	2.626	13.867	0.528	0.0296635243123	0.0007	0.000199681	0.0011	0.0002	0.0012	0	0	0.0013	0.0033	0.0020	0.0009961	154	154602	rs201967894	0.0007	0.0008	0.0007	0.0008	0.0108	0.0007	0.0007	0.0086	0.0079	0.0002	0.0010	0.0106	0	0	0.0108	0.0004	0.0018	0.0016	0.0008	0.0008	0.0008	0.0008	0.0010	0.0007	0.0007	0.0006	0.0005	0.0002	0	0.0007	0.0115	0	0	0.0034	0.0008	0.0043	0.0010	0.01	0.56456	D	0.01	0.65728	D	0.999	0.77913	D	0.977	0.73820	D	0.153103	0.17902	U	0.505872	0.999773	0.48980	D	2.24	0.63355	M	-0.07	0.63738	T	-5.44	0.85397	D	0.732	0.73285	-0.2889	0.75295	T	0.373	0.73167	T	10	0.023703396	0.00628	T	0.029664	0.52133	D	0.528	0.80067	.	.	0.463414561204	0.45969	0.605758391111315	0.60506	0.250625226812	0.27637	0.62706053257	0.56728	T	0.216551	0.57875	T	-0.0390297	0.46094	T	0.15793	0.80680	D	0.0471129754404522	0.04985	T	0.791621	0.43272	T	0.6055087	0.72987	0.69344234	0.81955	0.6055087	0.72988	0.69344234	0.81956	-9.08	0.68210	D	.	.	0.164	0.36134	B	.	.	3.902348	0.56852	23.8	0.99781899517084316	0.86867	0.94507	0.61389	D	AEFI	0.640899	0.61843	D	0.461203190935839	0.64842	4.748023	0.391503108828037	0.61040	4.298757	0.403910874983275	0.20154	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.2	3.3	0.36912	2.405000	0.44201	4.328000	0.43018	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.8455:0.1545:0.0	13.867	0.63095	793	0.45818	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2374.98	36	chr7	7531484	.	C	T	2374.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.245e+00;DP=979;ExcessHet=0.0000;FS=5.689;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.57;ReadPosRankSum=0.174;SOR=0.395	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr7	7572944	7572944	C	T	exonic	MIOS	.	nonsynonymous SNV	MIOS:NM_001370077:exon2:c.C469T:p.P157S	.	.	434	1087	0	1	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.0	B	0.0	B	0.000	D	1.000	D	-0.06	N	0.74	T	-1.071	T	0.065	T	0.11	0.062	4.337	5.32	2.941	1.953	11.472	0.091	0.00214407481956	.	.	3.317e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs764036994	1.437e-05	1.436e-05	4.084e-06	2.475e-05	0.0002	9.23e-06	7.84e-06	0.0002	0.0001	0	0	0	0	0	0	8.993e-07	0	0.0002	1.972e-05	1.969e-05	0	4.034e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.033e-05	0	0	0	0	0	0	0	0	0	0.0006	0.176	0.22312	T	0.76	0.06147	T	0.0	0.02946	B	0.0	0.01387	B	0.000108	0.50451	D	0.173723	0.999833	0.49637	D	0.345	0.11182	N	0.74	0.50459	T	0.4	0.03463	N	0.147	0.14905	-1.0715	0.09086	T	0.065	0.26913	T	10	0.09358716	0.16575	T	0.002144	0.03989	T	0.091	0.26358	0.366	0.37361	0.480046427281	0.47636	0.16919716769481669	0.16839	0.230400222297	0.25588	0.429964601994	0.29203	T	0.016949	0.13915	T	-0.406572	0.02095	T	-0.547489	0.17567	T	0.0484422213025863	0.05223	T	0.751425	0.38711	T	0.042015158	0.06295	0.05603604	0.09939	0.042015158	0.06294	0.05603604	0.09939	-2.177	0.03930	T	.	.	0.069	0.04119	B	.;.;.	.;.;.	2.532519	0.32744	19.13	0.814659289765164	0.13699	0.83253	0.42385	D	AEFDGBCI	0.212359	0.33805	N	-0.196051530506343	0.33297	1.887554	0.046986355639376	0.41925	2.527149	0.99998771470119	0.51787	0.732398	0.92422	0	0.581341	0.33841	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	1.985000	0.40289	3.957000	0.40718	0.599000	0.40250	0.987000	0.36337	1.000000	0.68203	0.996000	0.76049	0.1306:0.7272:0.1422:0.0	11.472	0.49522	670	0.60992	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2551.98	33	chr7	7572944	.	C	T	2551.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=878;ExcessHet=0.0000;FS=3.248;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=1.09;SOR=0.488	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1278	20	0	1	0
chr7	7673314	7673319	AGCAGC	-	splicing	UMAD1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	16242.43	19	chr7	7673310	.	TAGCAGCAGC	T,TAGCAGCAGCAGC,TAGC,TAGCAGC,TAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	16242.43	.	AC=16,7,3,1,1,1;AF=0.381,0.167,0.071,0.024,0.024,0.024;AN=42;BaseQRankSum=0.257;DP=845;ExcessHet=4.5793;FS=1.329;InbreedingCoeff=-0.2255;MLEAC=16,7,3,1,1,1;MLEAF=0.381,0.167,0.071,0.024,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=28.25;ReadPosRankSum=-2.670e-01;SOR=0.560	GT:AD:DP:GQ:PL	0/1:17,13,0,0,0,0,0:30:99:495,0,674,546,714,1260,546,714,1260,1260,546,714,1260,1260,1260,546,714,1260,1260,1260,1260,546,714,1260,1260,1260,1260,1260	1	3	5	0
chr7	8128116	8128116	G	A	exonic	ICA1	.	nonsynonymous SNV	ICA1:NM_001350838:exon11:c.C862T:p.P288S	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.001	B	0.005	B	0.662	N	1.000	N	0.895	L	.	.	-0.997	T	0.041	T	0.078	0.556	7.005	-2.27	-0.119	-0.057	0.997	0.043	0.00247359306953	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1271340853	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.384	0.20683	T	0.712	0.05525	T	0.0	0.02946	B	0.005	0.11217	B	0.662364	0.10416	N	0.821953	1	0.08975	N	0.895	0.22405	L	.	.	.	-1.49	0.36385	N	0.079	0.05929	-0.9966	0.30865	T	0.041	0.17615	T	9	0.06334579	0.08239	T	0.002474	0.04896	T	0.043	0.11576	0.452	0.51448	0.325263233342	0.32141	0.11042531206472342	0.10971	0.134618601746	0.15165	0.232876420021	0.02188	T	0.17466	0.52396	T	-0.34103	0.05316	T	-0.630789	0.10354	T	0.00965733491726003	0.00126	T	0.624238	0.24084	T	0.018728772	0.00395	0.036549978	0.03125	0.018728772	0.00395	0.036549978	0.03125	-3.196	0.12530	T	.	.	0.062	0.04119	B	.;.;.;.;.;.	.;.;.;.;.;.	0.092654	0.04961	1.526	0.35593543528389832	0.02242	0.03335	0.08411	N	AEFBCI	0.029151	0.02701	N	-1.26889634863058	0.04055	0.1823322	-1.2824254205295	0.04667	0.2207141	0.999809646528566	0.43304	0.706548	0.73137	0	0.658105	0.61773	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.37	-2.27	0.06458	0.158000	0.16239	0.336000	0.17333	-0.202000	0.08738	0.001000	0.13787	0.000000	0.08366	0.046000	0.14843	0.3396:0.1251:0.3282:0.2071	0.997	0.01377	603	0.67726	Islet cell autoantigen Ica1, C-terminal|Islet cell autoantigen Ica1, C-terminal;Islet cell autoantigen Ica1, C-terminal|Islet cell autoantigen Ica1, C-terminal;.;Islet cell autoantigen Ica1, C-terminal|Islet cell autoantigen Ica1, C-terminal;Islet cell autoantigen Ica1, C-terminal|Islet cell autoantigen Ica1, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1513.98	33	chr7	8128116	.	G	A	1513.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.593e+00;DP=811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.28;ReadPosRankSum=0.355;SOR=0.674	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1242	20	0	1	0
chr7	8751561	8751561	A	G	exonic	NXPH1	.	nonsynonymous SNV	NXPH1:NM_152745:exon3:c.A608G:p.K203R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.006	B	0.000	D	0.998	D	-1.285	N	.	.	-0.999	T	0.036	T	0.115	-0.822	0.618	4.92	2.324	5.368	11.658	0.369	0.00277419940689	.	.	8.521e-06	0	0	0	0	1.537e-05	0	0	6.5e-06	1	154602	rs759311254	1.369e-06	1.368e-06	0	2.752e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.006	0.12133	B	0.000000	0.84330	D	0.085942	0.998439	0.44913	D	-1.415	0.00585	N	.	.	.	2.12	0.00355	N	0.109	0.09490	-0.9987	0.30283	T	0.036	0.15640	T	9	0.10467416	0.19309	T	0.002774	0.05752	T	0.369	0.68844	0.517	0.61763	0.043077524339	0.03247	0.30074443733522443	0.29987	0.207978757635	0.23268	0.793109297752	0.80915	T	0.132526	0.46267	T	-0.214506	0.18750	T	-0.5459	0.17721	T	0.131678730249405	0.15537	T	0.846115	0.52582	T	0.09471223	0.22275	0.14798418	0.34999	0.09471223	0.22275	0.14798418	0.34998	-0.932	0.00927	T	.	.	0.09	0.12607	B	.;.	.;.	3.796426	0.54681	23.5	0.82089723889567645	0.14013	0.86968	0.46371	D	AEFDBCI	0.404707	0.47788	N	-0.427629497180095	0.24505	1.323598	-0.105009761693874	0.35189	2.03282	0.999876086296934	0.44625	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	6.06	4.92	0.64147	5.366000	0.65873	9.400000	0.80637	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9315:0.0:0.0684:0.0	11.658	0.50589	968	0.07033	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1938.98	36	chr7	8751561	.	A	G	1938.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.077e+00;DP=905;ExcessHet=0.0000;FS=16.247;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=-1.519e+00;SOR=0.372	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1398	20	0	1	0
chr7	11051767	11051767	C	T	exonic	PHF14	.	nonsynonymous SNV	PHF14:NM_001007157:exon14:c.C2468T:p.P823L	.	.	438	1078	6	0	0	6	0.00277521	.	.	2356885	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.938	P	0.262	B	0.000	D	1.000	D	0.345	N	3.8	T	-0.891	T	0.012	T	0.484	3.081	16.29	5.3	2.632	5.906	19.321	0.205	0.0246150328413	0.0003	.	0.0003	0.0001	8.729e-05	0	0	0.0003	0	0.0007	0.0002199	34	154602	rs201677864	0.0002	0.0002	0.0002	0.0003	0.0019	0.0002	0.0002	0.0011	0.0008	5.979e-05	8.96e-05	0	2.521e-05	0	0.0019	0.0002	0.0002	0.0009	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	7.237e-05	0	6.561e-05	0	0	0	0.0034	0.0003	0.0014	0.0002	0.003	0.68238	D	.	.	.	0.688	0.49385	P	0.043	0.34953	B	0.000000	0.84330	D	0.052105	1	0.81001	D	0.695	0.17993	N	3.8	0.03781	T	-4.08	0.74742	D	0.651	0.66187	-0.8908	0.48864	T	0.012	0.04463	T	10	0.14189455	0.26957	T	0.024615	0.47607	T	0.205	0.49236	.	.	0.432493127443	0.42867	0.3289878925891261	0.32811	0.968746961187	0.73286	0.720826506615	0.70167	T	0.065532	0.57678	T	-0.358306	0.04227	T	-0.380194	0.35699	T	0.37348461151123	0.27931	T	0.940673	0.77758	D	0.4042496	0.61025	0.36909673	0.62186	0.4042496	0.61025	0.36909673	0.62186	-4.011	0.23968	T	.	.	0.090	0.18080	B	.;.;.	.;.;.	3.820511	0.55160	23.6	0.99689182852322311	0.79842	0.99132	0.91696	D	AEFBI	0.775799	0.70910	D	0.292909165028621	0.55789	3.742965	0.418824621037677	0.62737	4.494395	0.996112633175681	0.34533	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.3	5.3	0.74745	5.968000	0.70121	7.645000	0.63394	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	19.321	0.94227	654	0.62520	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	643.98	43	chr7	11051767	.	C	T	643.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.968;DP=762;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.73;ReadPosRankSum=-1.597e+00;SOR=0.749	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1238	20	0	1	0
chr7	11543106	11543106	T	C	exonic	THSD7A	.	nonsynonymous SNV	THSD7A:NM_015204:exon5:c.A1465G:p.M489V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.000	N	0.987	N	-3.145	N	0.29	T	-0.996	T	0.021	T	0.126	-0.402	2.117	4.91	1.590	4.642	15.474	0.135	0.00581413233594	0.0009	0.000798722	0.0004	0.0048	8.652e-05	0	0	0	0	0	0.0003687	57	154602	rs138036985	0.0001	0.0001	0.0001	9.373e-05	0.0038	9.133e-05	8.662e-05	0.0032	0.0030	0.0038	0.0002	0	0	0	0	6.302e-06	0.0002	0	0.0012	0.0012	0.0012	0.0012	0.0040	0.0011	0.0010	0.0035	0.0033	0.0040	0	0.0015	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000003	0.62929	N	0.103111	0.986619	0.24599	N	-2.84	0.00021	N	0.29	0.58897	T	1.76	0.00537	N	0.258	0.29197	-0.9957	0.31109	T	0.021	0.09009	T	10	0.00421685	0.00084	T	0.005814	0.15101	T	0.135	0.36572	.	.	0.043077524339	0.03247	0.30871569046603464	0.30784	0.0437940796917	0.04719	0.417300999165	0.27466	T	0.015367	0.12902	T	-0.521241	0.00433	T	-0.5211	0.20182	T	0.0095576643816003	0.00124	T	0.433757	0.11839	T	0.15369938	0.34825	0.15548	0.36444	0.15369938	0.34825	0.15548	0.36443	2.264	0.00040	T	.	.	0.045	0.00051	B	.;.	.;.	1.909121	0.24245	16.33	0.41569062878856677	0.03008	0.20872	0.21199	N	AEFGBI	0.084564	0.17139	N	-0.866213194570826	0.11653	0.5635405	-0.477150340240966	0.22784	1.23927	0.885353813023549	0.25716	0.615465	0.37627	0	0.573888	0.26702	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.78	4.91	0.63897	4.750000	0.61857	5.927000	0.51257	-0.237000	0.07570	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.9333:0.0:0.0667	15.474	0.75196	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	695.98	37	chr7	11543106	.	T	C	695.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.613e+00;DP=763;ExcessHet=0.0000;FS=4.638;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.67;ReadPosRankSum=-1.251e+00;SOR=0.334	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1285	20	0	1	0
chr7	11831855	11831855	-	GCAGCG	exonic	THSD7A	.	nonframeshift insertion	THSD7A:NM_015204:exon1:c.91_92insCGCTGC:p.L34_L35insPL,	.	.	413	987	26	4	92	126	0.0169323	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	5652.12	34	chr7	11831843	.	AGCAGCGGCAGCG	A,AGCAGCGGCAGCGGCAGCG	5652.12	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=0.293;DP=1040;ExcessHet=0.6776;FS=3.536;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=16.92;ReadPosRankSum=0.114;SOR=0.537	GT:AD:DP:GQ:PL	0/0:33,0,0:33:99:0,99,1199,99,1199,1199	17	0	3	0
chr7	12370298	12370298	C	T	exonic	VWDE	.	nonsynonymous SNV	VWDE:NM_001346972:exon10:c.G1663A:p.E555K	.	.	431	1059	31	1	0	33	0.0153417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.039	B	0.017	B	.	.	0.774	N	0.205	N	-1.67	D	-0.669	T	0.240	T	0.415	1.126	9.590	3.0	0.582	2.759	10.462	0.322	.	.	0.00379393	0.0066	0.0005	0.0049	0.0016	0.0012	0.0074	0.0125	0.0086	0.0015459	239	154602	rs143911862	0.0029	0.0028	0.0026	0.0032	0.0116	0.0028	0.0028	0.0093	0.0085	0.0003	0.0039	0.0138	0	0.0014	0.0116	0.0024	0.0035	0.0086	0.0028	0.0028	0.0026	0.0029	0.0116	0.0026	0.0025	0.0092	0.0083	0.0003	0	0.0022	0.0153	0.0002	0.0014	0.0068	0.0036	0.0038	0.0116	0.09	0.31987	T	0.08	0.41913	T	0.039	0.21116	B	0.017	0.18140	B	.	.	.	.	0.77401	0.29406	N	1.04	0.26193	L	-1.67	0.82806	D	-2.02	0.46503	N	0.19	0.20793	-0.6688	0.61883	T	0.240	0.60774	T	9	0.0066004694	0.00149	T	.	.	.	0.322	0.64420	.	.	0.186928172975	0.18263	0.7548996032372176	0.75436	.	.	0.378689438105	0.22071	T	0.028523	0.21822	T	-0.318002	0.07062	T	-0.222883	0.52459	T	0.0109911486523448	0.00158	T	0.726827	0.34315	T	0.08474436	0.19628	0.12793154	0.30786	0.08474436	0.19628	0.12793154	0.30785	-3.349	0.14378	T	.	.	0.101	0.17445	B	.;.	.;.	1.978526	0.25134	16.65	0.98594954265273849	0.43427	0.93949	0.59660	D	AEFDGBCI	0.406151	0.47875	N	-0.60383594813881	0.18829	0.9806567	-0.473808018450634	0.22879	1.244853	0.973374268578929	0.29450	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.586402	0.36253	0	.	.	4.93	3.0	0.33773	3.000000	0.49169	1.241000	0.25107	-0.187000	0.09635	0.996000	0.39380	0.898000	0.27928	0.485000	0.28678	0.0:0.8301:0.0:0.1699	10.462	0.43772	834	0.38640	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2398.98	41	chr7	12370298	.	C	T	2398.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.183;DP=1247;ExcessHet=0.0000;FS=0.557;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=-9.500e-02;SOR=0.624	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1389	20	0	1	0
chr7	12380643	12380643	G	C	exonic	VWDE	.	nonsynonymous SNV	VWDE:NM_001135924:exon5:c.C632G:p.S211C	.	.	439	1041	40	2	0	44	0.0206961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.761	P	0.338	B	.	.	0.965	N	1.04	L	-1.67	D	-0.401	T	0.416	T	0.096	2.838	15.45	4.98	2.586	2.223	13.417	0.317	.	0.0002	0.00299521	0.0071	0.0004	0.0024	0	0.0012	0.0005	0	0.0191	0.0012484	193	154602	rs201430222	0.0014	0.0013	0.0008	0.0019	0.0163	0.0013	0.0013	0.0155	0.0152	6.33e-05	0.0004	0.0004	2.798e-05	0.0002	0.0102	0.0004	0.0017	0.0163	0.0009	0.0009	0.0007	0.0012	0.0147	0.0008	0.0008	0.0120	0.0110	4.812e-05	0	0.0007	0.0006	0	0.0003	0.0136	0.0007	0.0019	0.0147	0.019	0.50132	D	0.015	0.61642	D	0.761	0.43566	P	0.338	0.42306	B	.	.	.	.	0.965048	0.25955	N	1.495	0.37439	L	-1.67	0.82806	D	-2.2	0.49519	N	0.162	0.17002	-0.4008	0.72001	T	0.416	0.76279	T	9	0.008293569	0.00188	T	.	.	.	0.317	0.63904	.	.	0.343334270461	0.33943	0.20029899394606046	0.19946	.	.	0.376162022352	0.21712	T	0.039527	0.25219	T	-0.420008	0.01710	T	-0.361152	0.37918	T	0.024809887274748	0.01248	T	0.578142	0.20837	T	0.16607872	0.36921	0.15976596	0.37245	0.16607872	0.36920	0.15976596	0.37244	-11.404	0.81827	D	.	.	0.167	0.36712	B	.	.	3.624016	0.51305	23.1	0.98969845649481181	0.49501	0.95695	0.65763	D	AEFBI	0.631091	0.61219	D	0.196351805118652	0.51024	3.287046	0.249341905279831	0.52612	3.434912	0.999978700190465	0.50053	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.98	4.98	0.65679	2.332000	0.43561	5.528000	0.48839	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.775000	0.36711	0.0:0.0:0.843:0.157	13.417	0.60423	837	0.37933	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	5345.68	48	chr7	12380643	.	G	C	5345.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.480e-01;DP=1122;ExcessHet=0.3300;FS=3.317;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.53;ReadPosRankSum=-2.040e-01;SOR=0.538	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	3	0
chr7	12393646	12393646	T	C	exonic	VWDE	.	nonsynonymous SNV	VWDE:NM_001135924:exon2:c.A191G:p.Y64C	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	0.937	D	3.45	M	-0.06	T	0.150	D	0.500	T	0.909	3.944	20.2	3.71	0.894	5.707	10.442	0.416	0.0504573470259	.	.	.	.	.	.	.	.	.	.	.	.	.	rs968795162	1.787e-05	1.71e-05	1.269e-05	2.319e-05	0.0005	1.227e-05	1.037e-05	0.0002	0.0002	0.0004	0	0	5.598e-05	0	0.0005	2.781e-06	5.175e-05	1.263e-05	1.315e-05	1.313e-05	2.571e-05	0	2.413e-05	2.19e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.061201	0.937339	0.37187	D	3.76	0.95097	H	-0.06	0.63568	T	-6.83	0.93020	D	0.765	0.76296	0.150	0.85051	D	0.500	0.81091	T	10	0.80782115	0.80100	D	0.050457	0.64249	D	0.416	0.72631	0.408	0.44230	0.528358622244	0.52483	0.8841995639925236	0.88387	.	.	0.496502488852	0.38341	T	0.149931	0.48918	T	0.211977	0.75017	D	0.270314	0.86594	D	0.994053065776825	0.85132	D	0.932607	0.74787	D	0.82315797	0.85434	0.5591991	0.74498	0.82315797	0.85435	0.5591991	0.74498	-10.799	0.78544	D	.	.	0.924	0.84525	P	.	.	4.093690	0.60986	24.3	0.99811377658433542	0.89531	0.88802	0.48907	D	AEFBHCI	0.834535	0.75258	D	0.688406419674826	0.78871	6.959975	0.563201385291407	0.72321	5.791426	0.999999942236881	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.87	3.71	0.41733	5.677000	0.67810	3.451000	0.38447	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0766:0.0:0.9234	10.442	0.43658	843	0.36859	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	832.98	34	chr7	12393646	.	T	C	832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.862;DP=837;ExcessHet=0.0000;FS=0.990;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=-9.970e-01;SOR=0.906	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	20	0	1	0
chr7	15560238	15560238	C	G	exonic	AGMO	.	nonsynonymous SNV	AGMO:NM_001004320:exon2:c.G160C:p.E54Q,	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.89	M	0.98	T	-0.334	T	0.340	T	0.898	4.636	25.4	5.93	2.805	5.304	20.337	0.338	0.0215119406975	0.0002	0.000199681	0.0001	9.632e-05	0.0003	0	0	0.0001	0	0	0.0001035	16	154602	rs146766067	0.0001	0.0001	0.0002	0.0001	0.0005	0.0001	0.0001	0.0004	0.0003	0.0003	0.0005	0	0	0	0.0003	0.0001	0.0004	5.8e-05	0.0002	0.0002	0.0003	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	0.0003	0	0.0003	0	0	0	0.0034	0.0002	0.0005	0	0.0	0.91255	D	0.04	0.50809	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	3.33	0.90841	M	0.98	0.42122	T	-2.56	0.55339	D	0.854	0.85027	-0.3338	0.74023	T	0.340	0.70616	T	10	0.759364	0.76226	D	0.021512	0.44288	T	0.338	0.66010	.	.	0.544607969852	0.54114	0.9726830599447898	0.97257	0.00326426103309	0.00279	0.53327703476	0.43496	T	0.515578	0.82959	D	0.035211	0.56416	T	0.114523	0.77872	D	0.303637982986494	0.25154	T	0.882712	0.60367	D	0.6300006	0.74298	0.57432497	0.75342	0.6300006	0.74299	0.57432497	0.75343	-11.86	0.84162	D	.	.	0.839	0.79173	P	.	.	4.318359	0.66070	24.9	0.99808727931394114	0.89264	0.93920	0.59575	D	AEFDBCI	0.769871	0.70499	D	0.889841623800558	0.91252	10.791	0.850441222325945	0.93042	11.78798	0.999999999997771	0.74766	0.495158	0.18159	0	0.573888	0.26702	0	0.573888	0.23631	0	0.75052	0.99595	0	.	.	5.93	5.93	0.95888	5.432000	0.66256	4.036000	0.41382	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	20.337	0.98749	969	0.06854	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1186.98	36	chr7	15560238	.	C	G	1186.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.296;DP=780;ExcessHet=0.0000;FS=0.778;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.76;ReadPosRankSum=0.815;SOR=0.808	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1222	20	0	1	0
chr7	16216076	16216076	G	A	exonic	CRPPA	.	nonsynonymous SNV	CRPPA:NM_001101417:exon8:c.C1091T:p.S364F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.116	B	0.015	B	.	.	1.000	N	0	N	-2.11	D	-0.771	T	0.307	T	0.087	1.409	10.65	-2.66	-0.210	-0.128	5.095	0.169	0.0579891373155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.477e-06	6.158e-06	4.152e-06	2.795e-06	0.0005	1.02e-06	7.4e-07	0.0001	7.916e-05	0	0	0	0	0	0.0005	1.818e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.49117	D	0.647	0.06812	T	0.116	0.26475	B	0.015	0.17295	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-2.11	0.86283	D	-1.08	0.28084	N	0.233	0.26233	-0.7706	0.56825	T	0.307	0.67786	T	9	0.19350168	0.35122	T	0.057989	0.67162	D	0.169	0.43123	0.383	0.40134	0.389126455913	0.38528	0.17377019773525423	0.17297	0.0620294916883	0.06903	0.267656058073	0.05836	T	0.007871	0.07247	T	-0.154453	0.27618	T	-0.459638	0.26638	T	0.0847398002275077	0.10583	T	0.592541	0.24395	T	0.15033735	0.34230	0.09243472	0.21783	0.15033735	0.34229	0.09243472	0.21782	-4.013	0.23998	T	.	.	0.125	0.32420	B	.;.	.;.	1.036081	0.14163	10.74	0.96472164228350632	0.29939	0.15397	0.18891	N	AEFBI	0.109112	0.21683	N	-0.896513283811043	0.10925	0.5245361	-0.833512609486949	0.13685	0.7112324	0.317268264719815	0.19348	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.07	-2.66	0.05721	-0.102000	0.10926	-1.240000	0.05935	-0.843000	0.02775	0.716000	0.28781	0.000000	0.08366	0.840000	0.39645	0.0:0.28:0.2893:0.4307	5.095	0.14062	939	0.14249	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	520.98	34	chr7	16216076	.	G	A	520.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.710e-01;DP=759;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.83;ReadPosRankSum=0.384;SOR=0.631	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,114,1410	20	0	1	0
chr7	16537679	16537679	T	C	exonic	LRRC72	.	nonsynonymous SNV	LRRC72:NM_001195280:exon3:c.T217C:p.W73R,	.	.	450	1067	4	1	0	6	0.00280374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	.	.	.	.	.	.	0.561	D	1.04	L	1.92	T	-0.989	T	0.063	T	0.805	3.542	18.07	5.34	2.023	3.851	11.747	0.248	.	.	0.00259585	0.0049	0	0	0	0	0	0	0.0105	0.0006468	100	154602	rs369407971	0.0006	0.0006	0.0003	0.0008	0.0098	0.0005	0.0005	0.0092	0.0090	3.284e-05	3.059e-05	0	0	2.086e-05	0.0004	5.673e-06	0.0006	0.0098	0.0004	0.0004	0.0003	0.0006	0.0128	0.0003	0.0003	0.0103	0.0093	0	0	0	0	0	0	0	0	0.0005	0.0128	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.561133	0.32214	D	0.635	0.15989	N	1.92	0.23082	T	-10.1	0.98876	D	0.51	0.54147	-0.9894	0.32753	T	0.063	0.26136	T	7	0.013631463	0.00288	T	.	.	.	0.248	0.55615	0.642	0.77903	0.454145904683	0.45038	0.4562916730438032	0.45547	.	.	0.725517988205	0.70852	T	0.12717	0.45403	T	-0.279474	0.10724	T	-0.166973	0.57720	T	0.166331296172008	0.18327	T	0.474053	0.14146	T	0.8252959	0.85578	0.76090217	0.85873	0.8252959	0.85580	0.76090217	0.85874	-8.387	0.63679	D	.	.	0.913	0.83659	P	.	.	4.532999	0.71174	25.6	0.99377389927531345	0.61715	0.85842	0.45021	D	AEFI	0.468123	0.51506	N	0.20033791177969	0.51216	3.304634	0.302086001222293	0.55660	3.729078	0.00461328751192363	0.10641	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.34	5.34	0.75982	2.509000	0.45120	3.437000	0.38355	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	11.747	0.51091	930	0.16408	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	599.98	35	chr7	16537679	.	T	C	599.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.680e-01;DP=730;ExcessHet=0.0000;FS=1.010;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.00;ReadPosRankSum=0.865;SOR=0.467	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1065	20	0	1	0
chr7	16600829	16600829	G	A	exonic	ANKMY2	.	nonsynonymous SNV	ANKMY2:NM_020319:exon10:c.C1258T:p.L420F,	.	.	426	1044	50	2	0	54	0.0252101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.119	B	0.07	B	0.298	N	1.000	N	0.55	N	-0.75	T	-0.817	T	0.214	T	0.065	1.667	11.53	2.83	0.505	0.187	12.596	0.219	.	0.0067	0.00439297	0.0071	0.0013	0.0058	0	0.0008	0.0104	0.0132	0.0040	0.0068563	1060	154602	rs35504966	0.0067	0.0067	0.0065	0.0069	0.0562	0.0066	0.0065	0.0511	0.0492	0.0029	0.0055	0.0747	0	0.0011	0.0562	0.0054	0.0121	0.0046	0.0064	0.0064	0.0068	0.0060	0.0087	0.0061	0.0060	0.0075	0.0070	0.0015	0	0.0087	0.0786	0.0002	0.0009	0.0476	0.0064	0.0133	0.0050	0.088	0.32296	T	0.141	0.33442	T	0.119	0.26641	B	0.07	0.27859	B	0.298204	0.03938	N	1.466450	1	0.08975	N	0.345	0.11182	N	-0.75	0.73311	T	-0.63	0.18459	N	0.045	0.01740	-0.8165	0.54152	T	0.214	0.57547	T	10	0.0029207766	0.00047	T	.	.	.	0.219	0.51417	.	.	0.626644753645	0.62360	0.12344504020081694	0.12270	0.0543416032406	0.06012	0.250016897917	0.03769	T	0.001235	0.00725	T	-0.539205	0.00339	T	-0.543302	0.17974	T	0.00773720539080692	0.00090	T	0.448855	0.12628	T	0.044852592	0.07242	0.06048345	0.11525	0.044852592	0.07242	0.06048345	0.11524	-5.901	0.45444	T	.	.	0.068	0.02829	B	.	.	1.195981	0.15877	12.16	0.97636649181179258	0.35051	0.05254	0.11090	N	AEFBI	0.061389	0.11733	N	-0.782526810651424	0.13765	0.6805295	-0.788620490741912	0.14774	0.7737219	0.00813037390479041	0.11615	0.706298	0.61202	0	0.627178	0.54094	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.97	2.83	0.32150	0.199000	0.17037	1.786000	0.28758	0.676000	0.76740	0.000000	0.06391	0.009000	0.19889	0.556000	0.30317	0.0:0.4482:0.5518:0.0	12.596	0.55826	939	0.14249	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1408.98	38	chr7	16600829	.	G	A	1408.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.94;DP=928;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=0.192;SOR=0.722	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1414	20	0	1	0
chr7	17882834	17882834	G	A	exonic	SNX13	.	nonsynonymous SNV	SNX13:NM_001350870:exon6:c.C550T:p.L184F,	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.107	B	0.013	B	.	.	1.000	N	.	.	.	.	-1.030	T	0.041	T	0.032	1.848	12.14	-2.18	-0.534	-0.052	4.005	0.016	0.00136716752148	.	0.000199681	0.0018	0	0	0	0	0	0	0.0038	0.0001682	26	154602	rs551928493	0.0002	0.0002	0.0001	0.0003	0.0030	0.0002	0.0002	0.0026	0.0025	4.401e-05	4.142e-05	0	0	0	0.0002	1.101e-06	0.0002	0.0030	0.0001	0.0001	3.857e-05	0.0002	0.0037	8.664e-05	7.256e-05	0.0024	0.0020	4.816e-05	0	0	0	0	0	0	0	0	0.0037	0.859	0.02678	T	0.0	0.92824	D	0.107	0.26081	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	1.03	0.01350	N	0.112	0.09914	-1.0305	0.20292	T	0.041	0.17827	T	7	0.0041074753	0.00081	T	0.001367	0.01986	T	0.016	0.02506	0.245	0.17984	0.043077524339	0.03247	.	.	.	.	.	.	.	0.007859	0.07238	T	-0.677895	0.00049	T	-0.751763	0.03417	T	0.0162672268520536	0.00398	T	0.416058	0.10924	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.19760	B	.	.	0.733139	0.11023	7.681	0.98203551087723107	0.39140	0.01331	0.04588	N	AEFDGBI	0.037690	0.05221	N	-0.984594783992533	0.08931	0.4207384	-1.08249609659433	0.08044	0.393862	0.965181943819208	0.28813	0.475973	0.10046	0	0.547309	0.14657	0	0.654281	0.52657	0	0.528226	0.09195	0	.	.	2.07	-2.18	0.06643	0.183000	0.16729	-0.311000	0.10039	0.373000	0.20310	0.051000	0.21449	0.000000	0.08366	0.993000	0.69303	0.0:0.162:0.4866:0.3513	4.005	0.09084	593	0.68665	Phox-associated domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	603.33	34	chr7	17882834	.	G	A	603.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.082;DP=723;ExcessHet=0.0000;FS=2.110;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=9.14;ReadPosRankSum=-1.710e-01;SOR=0.700	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1165	19	0	1	1
chr7	18656932	18656932	G	A	exonic	HDAC9	.	nonsynonymous SNV	HDAC9:NM_001321878:exon12:c.G1484A:p.R495H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs536422370	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0004	0.0002	0.0006	0.0037	0.0003	0.0003	0.0030	0.0027	0	0	0.0037	0	0	9.448e-05	0	1.471e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	791.98	35	chr7	18656932	.	G	A	791.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=768;ExcessHet=0.0000;FS=0.942;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=0.623;SOR=0.538	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1314	20	0	1	0
chr7	19117046	19117063	GCCGCCGCCGCCGCCCGC	-	exonic	TWIST1	.	nonframeshift deletion	TWIST1:NM_000474:exon1:c.259_276del:p.A87_G92del,	Craniosynostosis 1, Autosomal dominant;Robinow-Sorauf syndrome, Autosomal dominant;Saethre-Chotzen syndrome, Autosomal dominant;Saethre-Chotzen syndrome with eyelid anomalies, Autosomal dominant	.	1	1508	11	1	1	14	0.00429185	.	.	252665	TWIST1-related_craniosynostosis|Saethre-Chotzen_syndrome|not_specified|not_provided	MONDO:MONDO:0007399,MedGen:C4551902,OMIM:123100,Orphanet:63440|MONDO:MONDO:0007042,MedGen:C0175699,OMIM:101400,Orphanet:794|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0014	0	0	0.0065	0.0014	0.0018	0.0063	0.0004	0.0001921	5	26028	rs544465774	0.0022	0.0022	0.0022	0.0022	0.0167	0.0021	0.0021	0.0155	0.0150	0.0007	0.0030	0.0112	0.0167	0.0111	0.0019	0.0013	0.0047	0.0012	0.0029	0.0029	0.0025	0.0033	0.0228	0.0027	0.0026	0.0194	0.0181	0.0005	0	0.0017	0.0102	0.0228	0.0147	0.0034	0.0012	0.0024	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2162.94	35	chr7	19117045	.	TGCCGCCGCCGCCGCCCGC	T	2162.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.827;DP=848;ExcessHet=0.0000;FS=0.649;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.77;ReadPosRankSum=1.33;SOR=0.757	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,992	20	0	1	0
chr7	19145146	19145146	C	T	exonic	FERD3L	.	nonsynonymous SNV	FERD3L:NM_152898:exon1:c.G217A:p.D73N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.319	B	0.077	B	0.177	N	1.000	N	0.345	N	-4.08	D	-0.117	T	0.706	D	0.067	0.830	8.345	5.29	2.481	1.992	14.424	0.215	0.0694249091326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	2.052e-06	1.362e-06	2.754e-06	2.238e-05	5.5e-07	1.5e-07	.	.	0	2.238e-05	0	0	0	0	9.002e-07	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.35349	T	0.185	0.28958	T	0.319	0.32965	B	0.077	0.28532	B	0.177264	0.17202	N	0.521231	1	0.08975	N	1.04	0.26193	L	-4.08	0.96594	D	0.16	0.05217	N	0.212	0.23632	-0.1168	0.79709	T	0.706	0.89882	D	10	0.18130705	0.33357	T	0.069425	0.70725	D	0.215	0.50805	0.307	0.27806	0.945474479156	0.94490	0.12214933733919874	0.12141	0.271143584804	0.29636	0.416368246078	0.27337	T	0.028926	0.20840	T	-0.00250659	0.51309	T	-0.241377	0.50665	T	0.46619838476181	0.31392	T	0.49475	0.15329	T	0.0522932	0.09732	0.077369615	0.17230	0.0522932	0.09731	0.077369615	0.17229	-6.544	0.50625	T	.	.	0.085	0.10062	B	.	.	1.959941	0.24899	16.57	0.99164812334189278	0.54212	0.84280	0.43362	D	AEFDBHCI	0.364385	0.45294	N	-0.399195384669048	0.25497	1.384552	-0.309001885282273	0.27807	1.545643	0.99245460640929	0.32845	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	5.29	5.29	0.74430	2.350000	0.43718	2.630000	0.33687	0.599000	0.40250	0.922000	0.32020	0.475000	0.25072	0.110000	0.18741	0.0:1.0:0.0:0.0	14.424	0.66777	916	0.20744	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1527.98	33	chr7	19145146	.	C	T	1527.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.270e-01;DP=824;ExcessHet=0.0000;FS=0.841;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.79;ReadPosRankSum=0.954;SOR=0.865	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,104,1710	20	0	1	0
chr7	20154356	20154356	T	G	exonic	MACC1	.	nonsynonymous SNV	MACC1:NM_182762:exon6:c.A2183C:p.E728A,	.	.	433	1081	7	1	0	9	0.00414556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.0	B	0.0	B	0.003	N	1.000	N	0.69	N	1.53	T	-1.065	T	0.006	T	0.125	0.817	8.286	3.73	0.296	1.307	9.522	0.052	.	0.0019	0.0213658	0.0127	0.0049	0.0785	0.0373	0.0106	0.0016	0.0201	0.0042	0.0119403	1846	154602	rs12671170	0.0050	0.0050	0.0051	0.0048	0.0726	0.0049	0.0048	0.0705	0.0696	0.0039	0.0726	0.0117	0.0487	0.0103	0.0016	0.0003	0.0070	0.0044	0.0081	0.0081	0.0076	0.0087	0.0384	0.0077	0.0076	0.0358	0.0348	0.0050	0	0.0384	0.0118	0.0351	0.0126	0	0.0005	0.0099	0.0060	0.082	0.33254	T	0.013	0.63109	D	0.0	0.02946	B	0.0	0.01387	B	0.002733	0.36034	N	0.332040	1	0.08975	N	0.69	0.16971	N	1.53	0.30401	T	0.59	0.02558	N	0.036	0.01068	-1.0646	0.10642	T	0.006	0.02206	T	10	0.002683401	0.00041	T	.	.	.	0.052	0.14661	.	.	.	.	0.2806016829360881	0.27973	0.0128237664559	0.01236	0.278606891632	0.07299	T	0.00322	0.02626	T	-0.648627	0.00074	T	-0.650223	0.08939	T	0.00922168178942532	0.00117	T	0.0984901	0.00732	T	0.040702697	0.05860	0.05056714	0.07964	0.040702697	0.05859	0.05056714	0.07963	-6.0	0.46280	T	.	.	0.073	0.04806	B	.;.;.	.;.;.	0.722346	0.10914	7.584	0.94733351863613113	0.25416	0.65820	0.32866	D	AEFDGBIJ	0.284066	0.39702	N	-0.939154905780423	0.09938	0.4725964	-0.871793626141332	0.12764	0.6584829	0.996192719438669	0.34585	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.55	3.73	0.41982	1.350000	0.33615	0.498000	0.18967	-0.807000	0.03101	0.615000	0.27871	0.002000	0.18203	0.024000	0.12247	0.0:0.7502:0.1188:0.1309	9.522	0.38305	850	0.35610	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1035.98	33	chr7	20154356	.	T	G	1035.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.714;DP=805;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.79;ReadPosRankSum=-2.880e-01;SOR=0.661	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr7	20161835	20161835	G	A	exonic	MACC1	.	nonsynonymous SNV	MACC1:NM_182762:exon4:c.C28T:p.R10W,	.	.	463	1055	4	0	0	4	0.00189215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.0	B	0.0	B	0.039	N	1.000	N	-1.39	N	2.84	T	-0.950	T	0.001	T	0.179	-0.180	3.122	2.74	0.456	0.571	1.007	0.056	.	0.0010	0.0197684	0.0123	0.0019	0.0770	0.0370	0.0097	0.0017	0.0188	0.0044	0.0116945	1808	154602	rs117142233	0.0049	0.0049	0.0050	0.0048	0.0718	0.0048	0.0047	0.0697	0.0689	0.0016	0.0718	0.0116	0.0487	0.0093	0.0014	0.0003	0.0068	0.0048	0.0073	0.0073	0.0068	0.0078	0.0382	0.0070	0.0068	0.0356	0.0346	0.0025	0	0.0382	0.0118	0.0357	0.0107	0	0.0005	0.0104	0.0066	0.081	0.33418	T	0.138	0.33780	T	0.0	0.02946	B	0.0	0.01387	B	0.039011	0.24219	N	0.388697	1	0.08975	N	-1.1	0.00987	N	2.84	0.10674	T	-1.52	0.36980	N	0.094	0.07949	-0.9496	0.41040	T	0.001	0.00318	T	10	0.0033397377	0.00058	T	.	.	.	0.056	0.15993	.	.	.	.	0.19364779086579953	0.19282	0.012807585689	0.01236	0.247384339571	0.03497	T	0.00715	0.06566	T	-0.655286	0.00067	T	-0.660596	0.08225	T	0.00766517469858366	0.00089	T	0.281272	0.04917	T	0.039965197	0.05618	0.0335399	0.02266	0.039965197	0.05618	0.0335399	0.02265	-5.069	0.37579	T	.	.	0.055	0.00420	B	.;.;.	.;.;.	1.463025	0.18861	13.96	0.73884733313348094	0.10491	0.00582	0.02622	N	AEFGI	0.056197	0.10370	N	-1.24822069668747	0.04323	0.1948975	-1.13914382836627	0.06964	0.3370566	0.845138950099022	0.24939	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.51	2.74	0.31352	0.578000	0.23476	1.290000	0.25406	-0.040000	0.17491	0.000000	0.06391	0.027000	0.21108	0.013000	0.09966	0.4729:0.107:0.2176:0.2025	1.007	0.01396	842	0.36989	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1561.98	39	chr7	20161835	.	G	A	1561.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=852;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=-1.400e-02;SOR=0.744	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr7	20379207	20379207	G	A	exonic	ITGB8	.	nonsynonymous SNV	ITGB8:NM_002214:exon4:c.G545A:p.R182H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.001	B	0.001	B	0.675	N	1.000	N	-0.14	N	-4.53	D	-0.143	T	0.672	D	0.124	1.800	11.98	-11.5	-2.280	-2.624	5.623	0.361	0.117280926661	.	.	6.596e-05	0	8.646e-05	0	0	8.997e-05	0	6.062e-05	5.17e-05	8	154602	rs762991609	4.591e-05	4.583e-05	4.5e-05	4.683e-05	0.0002	3.667e-05	3.353e-05	3.982e-05	3.578e-05	2.996e-05	4.497e-05	0	2.53e-05	0	0.0002	5.042e-05	1.659e-05	5.817e-05	4.605e-05	4.598e-05	9.002e-05	0	8.824e-05	2.111e-05	1.528e-05	3.763e-05	2.576e-05	0	0	6.551e-05	0	0	0	0	8.824e-05	0	0	0.038	0.42783	D	0.12	0.36365	T	0.0	0.02946	B	0.001	0.04355	B	0.674639	0.06056	N	1.145550	0.999988	0.18198	N	-0.83	0.01527	N	-4.53	0.97713	D	-0.35	0.12847	N	0.056	0.02759	-0.1434	0.79081	T	0.672	0.88650	D	10	0.12037033	0.22798	T	0.117281	0.79701	D	0.361	0.68141	0.622	0.75690	0.544391918571	0.54093	0.29458282207220304	0.29371	0.177625717197	0.19989	0.203645586967	0.00570	T	0.443125	0.78703	T	-0.206144	0.19924	T	-0.318553	0.42735	T	0.0395272063390773	0.03604	T	0.240176	0.12306	T	0.06450263	0.13690	0.05925527	0.11090	0.06450263	0.13690	0.05925527	0.11089	-3.684	0.19082	T	.	.	0.057	0.01179	B	.;.	.;.	-1.317661	0.00423	0.008	0.91210298739985229	0.20467	0.01975	0.05977	N	AEFBI	0.080030	0.16174	N	-1.69740760693908	0.00851	0.03681396	-1.74328938382435	0.00959	0.04293368	0.999999077676096	0.74766	0.651	0.46895	0	0.601575	0.49859	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.82	-11.5	0.00057	-2.518000	0.01029	-1.102000	0.06325	-2.749000	0.00198	0.000000	0.06391	0.000000	0.08366	0.195000	0.21750	0.5632:0.0644:0.1898:0.1826	5.623	0.16744	738	0.53389	.;Integrin beta subunit, VWA domain|Integrin beta subunit, VWA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1429.98	34	chr7	20379207	.	G	A	1429.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.88;DP=864;ExcessHet=0.0000;FS=3.270;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.26;ReadPosRankSum=0.146;SOR=0.990	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1075	20	0	1	0
chr7	20647548	20647548	T	C	exonic	ABCB5	.	nonsynonymous SNV	ABCB5:NM_001163941:exon10:c.T995C:p.V332A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.987	D	0.819	P	.	.	1.000	D	2.13	M	-2.55	D	0.399	D	0.719	D	0.396	2.011	12.68	2.93	0.914	5.562	9.171	0.594	0.081304607955	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs747874478	7.727e-06	1.163e-05	6.954e-06	8.516e-06	3.743e-05	4.15e-06	3.03e-06	9.94e-06	4.76e-06	0	0	0	0	0	0	6.407e-06	1.696e-05	3.743e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.001	0.78490	D	0.01	0.65728	D	.	.	.	.	.	.	.	.	.	.	0.751759	0.81001	D	.	.	.	-2.55	0.89561	D	-3.48	0.67941	D	0.598	0.61680	0.399	0.89086	D	0.719	0.90368	D	9	0.80226314	0.79611	D	0.081305	0.73652	D	0.594	0.83857	0.648	0.78542	0.805750104807	0.80393	0.5243048292291198	0.52354	0.0254376419855	0.02595	0.541206002235	0.44615	T	0.33397	0.70376	T	0.0992939	0.64215	D	-0.0951476	0.63770	T	0.963668584823608	0.66726	D	0.483352	0.14674	T	0.4092572	0.61368	0.48713762	0.70319	0.4092572	0.61369	0.48713762	0.70320	-9.684	0.71998	D	.	.	0.433	0.61363	A	.	.	3.034815	0.40663	21.2	0.98505627099223114	0.42276	0.95442	0.64737	D	AEFBI	0.512851	0.54089	D	0.144107783649195	0.48533	3.064448	0.0322944088491009	0.41223	2.473089	0.0107126509399271	0.12070	0.487112	0.14033	0	0.573888	0.26702	0	0.563428	0.18855	0	0.613276	0.41899	0	.	.	4.09	2.93	0.33092	6.073000	0.70878	4.845000	0.45320	-0.133000	0.13014	1.000000	0.71638	1.000000	0.68203	0.016000	0.10718	0.0:0.0901:0.0:0.9099	9.171	0.36244	887	0.27948	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1328.98	34	chr7	20647548	.	T	C	1328.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.400e-02;DP=821;ExcessHet=0.0000;FS=2.411;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.56;ReadPosRankSum=0.308;SOR=0.479	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr7	20651468	20651468	C	T	exonic	ABCB5	.	stopgain	ABCB5:NM_001163942:exon4:c.C46T:p.R16X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.001	D	1.000	A	.	.	.	.	.	.	.	.	.	4.878	28.0	1.43	0.328	-0.105	5.364	.	.	.	.	4.946e-05	0	8.688e-05	0	0	1.499e-05	0.0011	0.0002	3.88e-05	6	154602	rs761699207	1.847e-05	1.847e-05	8.168e-06	2.888e-05	0.0003	1.265e-05	1.084e-05	0.0002	0.0002	0	0	0	0	0	0	3.597e-06	0	0.0003	1.973e-05	1.971e-05	1.286e-05	2.693e-05	0.0004	5.25e-06	2.46e-06	7.29e-05	3.029e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.000593	0.43095	D	0.090443	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.951	0.95956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277056	0.81064	D	0.460519	0.93815	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.;.	High;.;.;.	7.938141	0.97010	36	0.9850963397451421	0.42325	0.16701	0.19509	N	AEFI	0.200144	0.32689	N	-0.180882267505357	0.33931	1.930755	-0.459665613634249	0.23275	1.268432	9.81893421780545E-5	0.04910	0.497415	0.19182	0	0.547309	0.14657	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	4.2	1.43	0.21585	-0.499000	0.06494	-0.362000	0.09668	-0.977000	0.01913	0.000000	0.06391	0.000000	0.08366	0.076000	0.17014	0.3718:0.4692:0.0:0.159	5.364	0.15404	893	0.26510	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1898.98	36	chr7	20651468	.	C	T	1898.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.226;DP=1135;ExcessHet=0.0000;FS=0.569;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=0.337;SOR=0.781	GT:AD:DP:GQ:PL	0/0:103,0:103:99:0,120,1800	20	0	1	0
chr7	20681647	20681647	A	G	exonic	ABCB5	.	nonsynonymous SNV	ABCB5:NM_178559:exon6:c.A515G:p.Y172C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.147	B	0.052	B	0.224	N	1.000	D	1.72	L	-0.25	T	-0.756	T	0.211	T	0.705	0.537	6.907	3.37	1.043	2.739	7.358	0.298	0.0259026461768	.	0.000798722	0.0003	0	0	0.0025	0	0.0002	0.0011	6.073e-05	0.0002781	43	154602	rs199971982	0.0003	0.0003	0.0003	0.0003	0.0072	0.0002	0.0002	0.0065	0.0063	0	0	0	0.0072	7.495e-05	0.0005	6.115e-05	0.0002	8.117e-05	0.0002	0.0002	0.0002	0.0003	0.0041	0.0002	0.0001	0.0027	0.0023	4.813e-05	0	0	0	0.0041	9.418e-05	0	0.0001	0	0.0002	0.012	0.54683	D	0.033	0.53072	D	.	.	.	.	.	.	0.224083	0.16070	N	0.540328	0.978745	0.39492	D	2.165	0.60562	M	-0.25	0.67011	T	-4.82	0.82341	D	0.725	0.75466	-0.7557	0.57636	T	0.211	0.57147	T	10	0.07273951	0.10897	T	0.025903	0.48845	D	0.298	0.61843	.	.	0.545389625809	0.54194	0.5059816140715515	0.50520	0.0334514064282	0.03503	0.455362737179	0.32677	T	0.254081	0.62468	T	-0.232446	0.16326	T	-0.110034	0.62608	T	0.11440409489249	0.13874	T	0.939306	0.87848	D	0.15684122	0.35373	0.23079546	0.48192	0.15684122	0.35373	0.23079546	0.48191	-9.117	0.68446	D	.	.	0.112	0.33891	B	.;.	.;.	2.932172	0.38961	20.9	0.9755854186326417	0.34610	0.67607	0.33494	D	AEBHCI	0.412099	0.48231	N	-0.233959004684698	0.31748	1.783368	-0.165154627977401	0.32829	1.871655	3.80719538279135E-4	0.06745	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.54	3.37	0.37692	2.158000	0.41955	2.590000	0.33463	0.751000	0.87719	0.951000	0.33123	0.808000	0.27011	0.877000	0.41881	0.6456:0.0:0.0:0.3544	7.358	0.25904	864	0.32732	ABC transporter-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1290.98	35	chr7	20681647	.	A	G	1290.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.180;DP=807;ExcessHet=0.0000;FS=2.135;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.94;ReadPosRankSum=1.30;SOR=1.044	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1165	20	0	1	0
chr7	21429488	21429490	CTC	-	exonic	SP4	.	nonframeshift deletion	SP4:NM_001326542:exon3:c.272_274del:p.P93del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0002	0.0002	8.64e-05	0	0	5.993e-05	0	0.0008	0.0001294	20	154602	rs758579105	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	0.0001	0.0008	0.0008	0.0001	4.472e-05	0	5.038e-05	0	0	0.0001	8.279e-05	0.0010	9.21e-05	9.196e-05	6.429e-05	0.0001	0.0006	5.534e-05	4.37e-05	0.0002	9.003e-05	0.0001	0	6.552e-05	0	0	0	0	5.882e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3590.94	44	chr7	21429487	.	ACTC	A	3590.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.450e-01;DP=1246;ExcessHet=0.0000;FS=1.085;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.60;ReadPosRankSum=-2.950e-01;SOR=0.708	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr7	21430622	21430622	A	G	exonic	SP4	.	nonsynonymous SNV	SP4:NM_001326542:exon3:c.A1406G:p.Q469R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.963	D	0.341	B	0.000	D	0.990	D	2.11	M	2.81	T	-1.096	T	0.036	T	0.385	2.776	15.24	5.08	2.133	8.761	15.017	0.188	0.00875274594027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.094	0.39645	T	0.963	0.55692	D	0.341	0.42432	B	0.000006	0.62929	D	0.065166	0.990478	0.41167	D	1.975	0.53506	M	2.81	0.10975	T	-1.95	0.45222	N	0.493	0.52651	-1.0960	0.04611	T	0.036	0.15422	T	10	0.5620309	0.64841	D	0.008753	0.23099	T	0.188	0.46444	0.595	0.72494	0.322284741503	0.31843	0.6600931092690547	0.65946	0.182636527527	0.20529	0.830132246017	0.86583	D	0.537979	0.84128	D	-0.110031	0.34764	T	-0.395828	0.33870	T	0.919452369213104	0.57817	D	0.805919	0.45429	T	0.32566908	0.55114	0.30039743	0.56073	0.32566908	0.55114	0.30039743	0.56072	-4.335	0.28664	T	.	.	0.399	0.59505	A	.;.	.;.	4.122258	0.61622	24.4	0.99657063186568362	0.77694	0.95295	0.64167	D	AEFDBCI	0.867030	0.78666	D	0.559398844813437	0.70657	5.533728	0.594833368677408	0.74569	6.159259	0.999999974158056	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.605231	0.38476	0	.	.	5.08	5.08	0.68373	5.964000	0.70093	11.287000	0.91924	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.017	0.71258	866	0.32446	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2370.98	44	chr7	21430622	.	A	G	2370.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.675e+00;DP=1050;ExcessHet=0.0000;FS=1.646;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.93;ReadPosRankSum=1.21;SOR=0.652	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr7	21589336	21589336	A	G	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon12:c.A2102G:p.N701S,	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	17	1502	3	0	0	3	0.000997672	.	.	635988	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.49	T	0.98	D	0.721	P	0.006	N	0.901	D	.	.	0.64	T	-0.910	T	0.168	T	0.057	3.216	16.77	1.95	0.096	2.379	8.718	0.163	0.0150601566935	0.0003	0.000199681	7.459e-05	0.0008	0	0	0	0	0	6.058e-05	6.47e-05	10	154602	rs369770445	2.881e-05	2.941e-05	2.729e-05	3.033e-05	0.0009	2.157e-05	1.913e-05	0.0007	0.0006	0.0009	0	0	0	0	0	3.602e-06	9.966e-05	1.169e-05	0.0002	0.0002	0.0001	0.0003	0.0006	0.0001	0.0001	0.0005	0.0004	0.0006	0	0.0002	0	0	0	0	0	0.0005	0	0.084	0.32929	T	.	.	.	0.98	0.59353	D	0.721	0.54900	P	0.006120	0.01111	N	2.441830	0.901031	0.36172	D	2.235	0.63160	M	0.64	0.52867	T	-4.0	0.74051	D	0.346	0.40063	-0.9100	0.46854	T	0.168	0.50697	T	9	0.11117259	0.20808	T	0.01506	0.35570	T	0.163	0.42028	.	.	0.32082282376	0.31691	0.09428530162683015	0.09360	.	.	0.434895157814	0.29879	T	0.299547	0.67207	T	-0.497165	0.00593	T	-0.569951	0.15454	T	0.321959286928177	0.25901	T	0.872113	0.57861	D	0.16626261	0.36951	0.1956982	0.43261	0.16626261	0.36951	0.1956982	0.43260	-2.189	0.03987	T	.	.	0.071	0.03964	B	.;.;.	.;.;.	2.412593	0.31014	18.61	0.9968261463739222	0.79373	0.77913	0.38366	D	AEFBI	0.231166	0.35444	N	0.142722538504594	0.48468	3.058706	0.130152779438613	0.46098	2.861482	2.4190210058525E-5	0.03498	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.58	1.95	0.25130	1.992000	0.40357	1.913000	0.29659	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.7771:0.0:0.2229:0.0	8.718	0.33582	763	0.50172	Dynein heavy chain, domain-1;Dynein heavy chain, domain-1;Dynein heavy chain, domain-1	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1100.98	34	chr7	21589336	.	A	G	1100.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=787;ExcessHet=0.0000;FS=3.736;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=1.53;SOR=0.738	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1167	20	0	1	0
chr7	21599891	21599891	G	A	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon15:c.G2772A:p.M924I,	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	1	1517	4	0	0	4	0.00131666	.	.	522867	not_provided|Primary_ciliary_dyskinesia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.55	T	0.013	B	0.006	B	0.140	N	0.993	N	.	.	2.01	T	-1.052	T	0.038	T	0.269	1.795	11.96	5.58	2.797	2.360	19.539	0.111	0.00459500448605	.	.	0.0002	0	0	0	0	0.0001	0.0023	0.0006	0.0001164	18	154602	rs766050153	9.927e-05	9.919e-05	8.582e-05	0.0001	0.0012	8.585e-05	8.054e-05	0.0006	0.0004	2.989e-05	2.241e-05	0	2.522e-05	0	0.0012	7.199e-05	0.0002	0.0005	5.92e-05	5.913e-05	6.43e-05	5.386e-05	0.0004	3.08e-05	2.212e-05	7.31e-05	3.036e-05	0	0	0	0	0.0002	9.448e-05	0	4.412e-05	0.0010	0.0004	0.254	0.16903	T	.	.	.	0.013	0.16609	B	0.006	0.12133	B	0.139766	0.18332	N	0.586420	0.993284	0.23740	N	2	0.54354	M	2.01	0.21291	T	-1.52	0.36980	N	0.365	0.40665	-1.0516	0.13954	T	0.038	0.16246	T	9	0.06870806	0.09755	T	0.004595	0.11346	T	0.111	0.31313	0.432	0.48171	0.119812018005	0.11559	0.26186817357771996	0.26099	.	.	0.393619418144	0.24178	T	0.049374	0.28290	T	-0.440894	0.01278	T	-0.513606	0.20944	T	0.0391772867404332	0.03541	T	0.272073	0.04599	T	0.33415732	0.55809	0.48612612	0.70258	0.33415732	0.55809	0.48612612	0.70259	-3.597	0.17813	T	0.3010667175922627	0.39842	0.365	0.57542	A	.;.;.	.;.;.	2.391690	0.30716	18.52	0.97681644710942994	0.35317	0.60875	0.31321	D	AEFBI	0.293356	0.40400	N	-0.223372224453016	0.32175	1.811835	-0.0716540244837278	0.36568	2.129732	0.00290110653193939	0.09788	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	5.58	5.58	0.84361	2.550000	0.45472	8.614000	0.77782	0.676000	0.76740	0.289000	0.25224	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	19.539	0.95259	690	0.58899	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1508.98	40	chr7	21599891	.	G	A	1508.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.600e-01;DP=793;ExcessHet=0.0000;FS=0.736;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=-2.299e+00;SOR=0.591	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1117	20	0	1	0
chr7	21617725	21617725	A	G	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon23:c.A4202G:p.Q1401R,	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	0	1473	48	1	0	50	0.0166889	.	.	252688	not_provided|Primary_ciliary_dyskinesia|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.61	T	0.949	P	0.697	P	0.000	D	1.000	D	.	.	0.27	T	-0.893	T	0.192	T	0.406	3.639	18.51	4.45	0.966	4.901	10.531	0.237	.	0.0010	0.00259585	0.0026	0	0.0006	0	0	0.0017	0.0034	0.0114	0.0023092	357	154602	rs199629774	0.0016	0.0016	0.0013	0.0019	0.0112	0.0015	0.0015	0.0107	0.0104	0.0003	0.0003	0.0049	2.519e-05	0.0001	0.0101	0.0009	0.0018	0.0112	0.0010	0.0010	0.0008	0.0012	0.0083	0.0009	0.0008	0.0063	0.0055	0.0001	0	0.0006	0.0058	0.0002	0	0.0034	0.0011	0.0005	0.0083	0.083	0.33091	T	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999979	0.53665	D	.	.	.	0.27	0.59176	T	-3.39	0.66896	D	0.586	0.62950	-0.8927	0.48696	T	0.192	0.54477	T	9	0.010043949	0.00225	T	.	.	.	0.237	0.54074	.	.	0.511503663882	0.50791	0.20893293679731403	0.20809	.	.	0.381819546223	0.22515	T	0.41079	0.76543	T	-0.368029	0.03695	T	-0.291036	0.45666	T	0.0379698708326417	0.03327	T	0.854315	0.54093	D	0.41109198	0.61492	0.391699	0.63934	0.44120803	0.63481	0.39904547	0.64478	-6.735	0.52073	T	0.5885128790951722	0.65531	0.098	0.16099	B	.;.;.	.;.;.	2.859971	0.37787	20.6	0.99761483852063804	0.85091	0.74822	0.36612	D	AEFBCI	0.597612	0.59133	D	0.25268694175051	0.53772	3.544679	0.276227376072199	0.54154	3.581354	0.999999802838549	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.648885	0.59868	0	.	.	5.6	4.45	0.53365	5.182000	0.64897	4.171000	0.42274	0.731000	0.85647	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.923:0.0:0.077:0.0	10.531	0.44164	669	0.61081	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1288.98	33	chr7	21617725	.	A	G	1288.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=829;ExcessHet=0.0000;FS=1.370;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.62;ReadPosRankSum=0.611;SOR=0.836	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1246	20	0	1	0
chr7	21658835	21658835	A	G	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon30:c.A5132G:p.Q1711R,	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	YES	4	1506	12	0	0	12	0.00396825	.	.	221686	not_specified|DNAH11-related_disorder|Primary_ciliary_dyskinesia|not_provided	MedGen:CN169374|.|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.647	N	1.000	N	.	.	0.26	T	-1.038	T	0.053	T	0.088	-1.504	0.017	2.36	0.520	0.633	8.451	0.072	0.00670184145786	0.0007	0.00119808	0.0012	0.0002	0.0028	0	0	0.0018	0.0025	0.0004	0.0005498	85	154602	rs189432084	0.0005	0.0005	0.0004	0.0005	0.0108	0.0004	0.0004	0.0086	0.0079	0.0006	0.0008	0.0007	0	0	0.0108	0.0004	0.0012	0.0004	0.0003	0.0003	0.0004	0.0003	0.0005	0.0002	0.0002	0.0004	0.0003	4.813e-05	0	0.0004	0.0006	0	0	0.0068	0.0005	0.0009	0.0002	1.0	0.00964	T	.	.	.	.	.	.	.	.	.	0.647012	0.10547	N	0.856163	1	0.08975	N	.	.	.	0.26	0.59314	T	0.99	0.01428	N	0.206	0.24883	-1.0384	0.17802	T	0.053	0.22617	T	9	0.0073883235	0.00168	T	0.006702	0.17699	T	0.072	0.21020	.	.	0.353974658523	0.35008	0.18141748728031518	0.18060	.	.	0.309853613377	0.11885	T	0.068139	0.33380	T	-0.528527	0.00392	T	-0.625883	0.10728	T	0.00801070365834025	0.00095	T	0.692631	0.30204	T	0.09059655	0.21204	0.1836126	0.41361	0.09059655	0.21204	0.1836126	0.41360	-2.627	0.06711	T	0.06823185531518619	0.02462	0.062	0.01215	B	.;.;.	.;.;.	0.683830	0.10526	7.236	0.16663141205606449	0.00456	0.10226	0.15791	N	AEFI	0.069758	0.13821	N	-0.870129291932799	0.11557	0.5584072	-0.82717253243323	0.13837	0.7199826	2.3902980708693E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.92	2.36	0.28258	0.471000	0.21811	2.988000	0.35869	0.731000	0.85647	0.000000	0.06391	0.065000	0.22112	0.621000	0.31922	0.641:0.0:0.359:0.0	8.451	0.32030	706	0.57215	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	550.98	33	chr7	21658835	.	A	G	550.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.030e-01;DP=737;ExcessHet=0.0000;FS=1.214;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.84;ReadPosRankSum=1.13;SOR=1.075	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1113	20	0	1	0
chr7	21738820	21738820	G	A	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon47:c.G7765A:p.V2589I,	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	252727	not_specified|Primary_ciliary_dyskinesia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.38	T	0.194	B	0.045	B	0.000	N	0.939	D	.	.	0.91	T	-1.073	T	0.054	T	0.104	1.445	10.77	3.58	0.744	2.535	12.291	0.066	0.0151843148976	0.0023	0.00239617	0.0009	0.0098	0.0002	0.0002	0	2.406e-05	0	0.0002	0.0006015	93	154602	rs145239537	0.0003	0.0003	0.0003	0.0002	0.0086	0.0002	0.0002	0.0078	0.0075	0.0086	0.0005	0	0.0002	0	0.0005	2.256e-05	0.0005	8.325e-05	0.0020	0.0020	0.0021	0.0019	0.0068	0.0018	0.0017	0.0062	0.0059	0.0068	0	0.0005	0	0.0006	0	0	4.411e-05	0.0014	0	0.018	0.50676	D	0.044	0.49663	D	.	.	.	.	.	.	0.000350	0.45440	N	0.187138	0.938876	0.37241	D	.	.	.	0.91	0.44856	T	-0.93	0.24898	N	0.117	0.11197	-1.0735	0.08660	T	0.054	0.22808	T	9	0.006401092	0.00145	T	0.015184	0.35761	T	0.066	0.19193	.	.	0.307966526162	0.30417	0.20493431037537554	0.20410	.	.	0.282019138336	0.07775	T	0.121455	0.44442	T	-0.576393	0.00203	T	-0.59616	0.13137	T	0.020879130711342	0.00789	T	0.874113	0.58964	D	0.09559961	0.22502	0.25900918	0.51642	0.07169746	0.15892	0.35566837	0.61090	-7.407	0.56954	T	0.6542973083135797	0.72690	0.102	0.29505	B	.;.;.;.	.;.;.;.	2.521381	0.32578	19.09	0.97984630811011908	0.37356	0.88932	0.49105	D	AEFBI	0.144717	0.26774	N	-0.610246773492525	0.18635	0.9691027	-0.578394983894298	0.20057	1.078909	0.00434166819514416	0.10509	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.41	3.58	0.40133	2.369000	0.43884	5.742000	0.49579	-0.113000	0.14837	0.988000	0.36536	1.000000	0.68203	0.948000	0.49324	0.1419:0.0:0.8581:0.0	12.291	0.54137	867	0.32089	AAA+ ATPase domain;AAA+ ATPase domain;AAA+ ATPase domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	599.98	34	chr7	21738820	.	G	A	599.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.365e+00;DP=795;ExcessHet=0.0000;FS=2.036;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.33;ReadPosRankSum=-2.820e+00;SOR=0.434	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1160	20	0	1	0
chr7	21741939	21741939	G	C	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon49:c.G7927C:p.V2643L,	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	1.0	D	0.998	D	0.000	D	1.000	D	.	.	0.88	T	-0.671	T	0.286	T	0.581	5.333	34	5.95	2.825	7.539	20.385	0.275	0.0251724644241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.88	0.46028	T	-2.66	0.56945	D	0.573	0.65330	-0.6714	0.61765	T	0.286	0.65821	T	9	0.54496515	0.63931	D	0.025172	0.48148	D	0.275	0.59130	0.437	0.48993	0.585991418203	0.58272	0.33993788932952224	0.33906	.	.	0.556814193726	0.46817	T	0.272636	0.64503	T	-0.014558	0.49626	T	-0.258688	0.48955	T	0.98971563577652	0.79936	D	0.883312	0.60567	D	0.6548574	0.75623	0.76869476	0.86341	0.6548574	0.75624	0.76869476	0.86342	-8.395	0.63732	D	0.5636202732012539	0.63120	0.256	0.49028	B	.;.;.	.;.;.	3.778004	0.54301	23.5	0.99838836200780401	0.91972	0.99467	0.96390	D	AEFBI	0.859520	0.77721	D	0.791648859473149	0.85581	8.618659	0.816326921787252	0.90905	10.624	0.999999998617645	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.95	5.95	0.96415	7.895000	0.85911	9.847000	0.81963	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.385	0.98941	867	0.32089	AAA+ ATPase domain;AAA+ ATPase domain;AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1334.98	33	chr7	21741939	.	G	C	1334.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.960;DP=820;ExcessHet=0.0000;FS=5.156;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.22;ReadPosRankSum=0.206;SOR=1.225	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1236	20	0	1	0
chr7	21784440	21784440	A	G	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon58:c.A9497G:p.Q3166R,	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	1	1519	2	0	0	2	0.000657895	.	.	1155658	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.17	T	1.0	D	0.998	D	0.000	D	1.000	D	.	.	-0.8	T	0.087	D	0.574	D	0.488	3.114	16.41	6.17	2.371	4.579	15.805	0.297	0.0506212878366	.	0.000998403	0.0007	0	0	0	0	0	0.0013	0.0052	0.0005045	78	154602	rs562875579	0.0002	0.0002	0.0002	0.0003	0.0039	0.0002	0.0002	0.0035	0.0034	0	0	0	0	0	0.0002	2.699e-06	0.0004	0.0039	0.0002	0.0002	6.423e-05	0.0003	0.0048	0.0001	9.232e-05	0.0033	0.0028	0	0	6.539e-05	0	0	0	0	0	0	0.0048	0.214	0.19361	T	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.8	0.73845	T	-1.57	0.37955	N	0.31	0.37717	0.087	0.83932	D	0.574	0.84599	D	9	0.009508342	0.00214	T	0.050621	0.64320	D	0.297	0.61730	0.324	0.30549	0.727606065629	0.72519	0.5618559201112545	0.56112	.	.	0.461622297764	0.33533	T	0.249105	0.61900	T	-0.284787	0.10166	T	-0.181861	0.56351	T	0.152861912553343	0.17329	T	0.521748	0.17009	T	0.50749254	0.67533	0.53591233	0.73182	0.5536794	0.70161	0.56630623	0.74897	-3.432	0.15490	T	0.6100918150494773	0.67763	0.118	0.24260	B	.;.;.	.;.;.	3.038194	0.40726	21.2	0.99622092080066726	0.75473	0.98169	0.80199	D	AEFGBI	0.691215	0.65128	D	0.654088880841443	0.76635	6.522801	0.678525992507211	0.80752	7.369173	0.999951335561755	0.48110	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	6.17	6.17	0.99707	3.806000	0.55288	8.050000	0.76353	-0.040000	0.17491	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	1.0:0.0:0.0:0.0	15.805	0.78265	775	0.48401	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1088.98	34	chr7	21784440	.	A	G	1088.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=801;ExcessHet=0.0000;FS=4.557;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.47;ReadPosRankSum=-2.730e-01;SOR=1.116	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1086	20	0	1	0
chr7	21807958	21807958	C	T	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon63:c.C10241T:p.T3414M,	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	933833	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.03	D	0.669	P	0.344	B	0.000	N	1.000	N	.	.	-0.81	T	-0.712	T	0.304	T	0.375	0.614	7.304	2.31	0.165	1.766	10.918	0.298	0.0458619827545	.	.	5.983e-05	0	0	0	0	3.593e-05	0	0.0003	3.88e-05	6	154602	rs779964310	2.816e-05	3.01e-05	2.049e-05	3.591e-05	0.0004	2.095e-05	1.885e-05	0.0003	0.0002	0	0	0	0	0	0	6.315e-06	1.663e-05	0.0004	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.014	0.53172	D	.	.	.	.	.	.	.	.	.	0.000011	0.62929	N	0.177951	0.999992	0.08975	N	.	.	.	-0.81	0.73949	T	-2.43	0.53258	N	0.316	0.35620	-0.7119	0.59859	T	0.304	0.67529	T	9	0.14916492	0.28235	T	0.045862	0.62186	D	0.298	0.61843	0.546	0.66015	0.499345284858	0.49572	0.528533266674182	0.52777	.	.	0.374953299761	0.21540	T	0.364942	0.73044	T	-0.201606	0.20572	T	-0.247934	0.50021	T	0.189934738586764	0.19840	T	0.828317	0.49240	T	0.1469088	0.33609	0.3403519	0.59789	0.1469088	0.33608	0.3403519	0.59788	-6.966	0.53785	T	0.6616176888685368	0.73519	0.100	0.16929	B	.;.;.	.;.;.	1.774965	0.22568	15.67	0.94254792607192972	0.24529	0.42536	0.26899	N	AEFBI	0.154053	0.27902	N	-0.518424793653431	0.21484	1.140509	-0.605980698434084	0.19338	1.037131	1.42919403727608E-4	0.05573	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	6.02	2.31	0.27816	1.828000	0.38750	0.833000	0.21967	-0.176000	0.10722	0.310000	0.25414	0.009000	0.19889	0.066000	0.16387	0.0:0.7533:0.0:0.2467	10.918	0.46361	768	0.49510	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	794.98	33	chr7	21807958	.	C	T	794.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.533;DP=803;ExcessHet=0.0000;FS=4.416;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.19;ReadPosRankSum=3.21;SOR=1.244	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	20	0	1	0
chr7	21842729	21842729	C	A	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon66:c.C10877A:p.P3626Q,	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	1	1514	6	1	0	8	0.00263505	.	.	457232	Primary_ciliary_dyskinesia|not_provided	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.17	T	1.0	D	1.0	D	0.000	D	1.000	D	.	.	1.29	T	-0.733	T	0.234	T	0.602	4.421	23.5	5.36	2.514	4.092	17.872	0.297	.	.	0.00319489	0.0035	0.0001	0.0003	0	0	0.0001	0.0074	0.0231	0.0021927	339	154602	rs543364800	0.0012	0.0012	0.0006	0.0017	0.0181	0.0011	0.0011	0.0174	0.0171	8.998e-05	0.0001	0	0	0	0.0005	5.133e-05	0.0012	0.0181	0.0006	0.0006	0.0003	0.0010	0.0191	0.0005	0.0005	0.0159	0.0148	0	0	0	0	0	0	0	1.47e-05	0.0009	0.0191	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.29	0.35775	T	-7.68	0.95574	D	0.655	0.69737	-0.7333	0.58796	T	0.234	0.60112	T	9	0.011086434	0.00244	T	.	.	.	0.297	0.61730	.	.	0.534955811369	0.53146	0.4803887249049406	0.47958	.	.	0.454489290714	0.32557	T	0.524052	0.83408	D	-0.33409	0.05808	T	-0.238393	0.50956	T	0.113040825222249	0.13736	T	0.988601	0.96130	D	0.5053534	0.67408	0.6308108	0.78463	0.69539404	0.77806	0.6627307	0.80233	-9.612	0.71554	D	0.8435680651421504	0.91150	0.306	0.53472	B	.;.;.	.;.;.	3.882109	0.56435	23.7	0.99380847544776907	0.61891	0.95066	0.63314	D	AEFI	0.681019	0.64452	D	0.634643801842917	0.75378	6.295346	0.634534339189621	0.77462	6.684346	0.999999800964993	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.36	5.36	0.76624	4.161000	0.57954	7.626000	0.62520	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	17.872	0.88727	752	0.51611	Dynein heavy chain, ATP-binding dynein motor region D5;Dynein heavy chain, ATP-binding dynein motor region D5;Dynein heavy chain, ATP-binding dynein motor region D5	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1230.98	34	chr7	21842729	.	C	A	1230.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.947e+00;DP=763;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.58;ReadPosRankSum=-1.598e+00;SOR=0.633	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1401	20	0	1	0
chr7	21894771	21894771	G	A	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon78:c.G12899A:p.R4300H,	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	1	1515	6	0	0	6	0.00197628	.	.	229589	Primary_ciliary_dyskinesia|not_specified|Primary_ciliary_dyskinesia_7	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.08	T	0.75	P	0.318	B	0.000	N	0.993	D	.	.	2.89	T	-1.086	T	0.027	T	0.576	2.431	14.09	2.83	0.324	0.457	9.740	0.130	0.00540154496653	0.0002	0.000399361	0.0005	0.0002	0.0006	0	0	0.0003	0	0.0022	0.0004657	72	154602	rs377388499	0.0003	0.0003	0.0002	0.0003	0.0022	0.0003	0.0002	0.0020	0.0019	6.004e-05	0.0002	0	2.521e-05	1.874e-05	0.0021	0.0001	0.0003	0.0022	0.0003	0.0003	0.0003	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	0.0001	0	0.0003	0	0	0	0	0.0004	0	0.0021	0.002	0.72154	D	.	.	.	.	.	.	.	.	.	0.000007	0.62929	N	0.104170	0.992916	0.41780	D	.	.	.	2.89	0.10196	T	-3.92	0.73151	D	0.229	0.28965	-1.0863	0.06173	T	0.027	0.11485	T	9	0.010042906	0.00225	T	0.005402	0.13862	T	0.130	0.35528	.	.	0.247322355667	0.24350	0.3876008304815128	0.38675	.	.	0.246520906687	0.03410	T	0.209726	0.57002	T	-0.430524	0.01472	T	-0.397361	0.33691	T	0.0487815743853669	0.05284	T	0.822518	0.48242	T	0.1951857	0.41297	0.21421741	0.45963	0.19428328	0.41172	0.23337096	0.48523	-5.884	0.45299	T	0.4281443655002869	0.51574	0.089	0.12228	B	.;.;.	.;.;.	2.390271	0.30693	18.52	0.99597207696157319	0.73983	0.29028	0.23713	N	AEFBHI	0.241632	0.36322	N	-0.378700305676832	0.26229	1.429921	-0.476162998931966	0.22812	1.240914	0.0714775686266725	0.15568	0.651	0.46895	0	0.588066	0.40923	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.6	2.83	0.32150	0.400000	0.20657	1.242000	0.25113	0.676000	0.76740	0.000000	0.06391	0.376000	0.24592	0.299000	0.24476	0.2869:0.0:0.7131:0.0	9.740	0.39580	841	0.37094	Dynein heavy chain domain;Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	3165.98	36	chr7	21894771	.	G	A	3165.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.64;DP=949;ExcessHet=0.0000;FS=1.530;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=1.35;SOR=0.733	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1138	20	0	1	0
chr7	21901198	21901198	G	A	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon82:c.G13495A:p.E4499K,	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	YES	0	1503	19	0	0	19	0.00628099	.	.	229591	not_provided|not_specified|Primary_ciliary_dyskinesia|Primary_ciliary_dyskinesia_7	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.009	N	1.000	D	.	.	3.21	T	-0.900	T	0.007	T	0.161	-1.009	0.248	0.464	-0.362	1.057	8.917	0.032	.	0.0020	0.00299521	0.0040	0.0004	0.0008	0.0020	0.0248	0.0035	0.0078	0.0032	0.0037128	574	154602	rs143362381	0.0036	0.0036	0.0036	0.0036	0.0043	0.0036	0.0035	0.0031	0.0030	0.0008	0.0012	0.0004	0.0017	0.0232	0.0043	0.0032	0.0027	0.0025	0.0040	0.0040	0.0028	0.0052	0.0031	0.0037	0.0036	0.0026	0.0025	0.0007	0	0.0024	0	0.0019	0.0290	0.0034	0.0030	0.0019	0.0031	1.0	0.00964	T	.	.	.	.	.	.	.	.	.	0.009282	0.30429	N	0.412335	1	0.81001	D	.	.	.	3.21	0.07125	T	3.09	0.00129	N	0.156	0.16168	-0.9003	0.47962	T	0.007	0.02282	T	9	0.002060622	0.00029	T	.	.	.	0.032	0.07718	.	.	0.0846915920261	0.08053	0.16280028807902414	0.16200	.	.	0.277374863625	0.07129	T	0.013292	0.11527	T	-0.627998	0.00098	T	-0.674997	0.07292	T	0.00187411544808209	0.00019	T	0.517048	0.16713	T	0.024502672	0.01289	0.07466748	0.16358	0.03026252	0.02660	0.09242625	0.21782	-1.473	0.01710	T	0.0746207692164072	0.03251	0.067	0.02578	B	.;.;.	.;.;.	0.561602	0.09303	6.083	0.65798481415480237	0.07875	0.04817	0.10541	N	AEFGBI	0.043922	0.07004	N	-1.41959815687533	0.02467	0.108966	-1.33772817820881	0.03952	0.1854431	0.355524989978658	0.19726	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.97	0.464	0.15918	1.042000	0.29914	1.401000	0.26197	-0.550000	0.04901	0.199000	0.24297	0.109000	0.22772	0.312000	0.24784	0.6047:0.2858:0.1095:0.0	8.917	0.34747	829	0.39537	Dynein heavy chain domain;Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	2575.98	46	chr7	21901198	.	G	A	2575.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.260e-01;DP=1081;ExcessHet=0.0000;FS=0.539;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=-1.060e-01;SOR=0.770	GT:AD:DP:GQ:PL	0/1:89,106:195:99:2590,0,2210	20	0	1	0
chr7	23260029	23260029	C	G	exonic	GPNMB	.	nonsynonymous SNV	GPNMB:NM_001005340:exon5:c.C591G:p.N197K	.	.	430	1071	15	0	6	21	0.0069541	.	.	722456	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.988	D	0.000	D	1.000	D	2.615	M	2.58	T	-0.999	T	0.104	T	0.36	3.915	19.91	4.98	1.483	2.459	11.039	0.168	0.0341786173716	.	.	0.0017	0.0012	0.0003	0	0	0.0027	0.0011	0.0008	0.0017982	278	154602	rs17147995	0.0040	0.0040	0.0041	0.0038	0.0049	0.0039	0.0039	0.0048	0.0048	0.0006	0.0008	7.653e-05	0	0.0002	0	0.0049	0.0036	0.0007	0.0022	0.0022	0.0022	0.0022	0.0036	0.0020	0.0019	0.0033	0.0031	0.0011	0.0011	0.0026	0	0	9.42e-05	0	0.0036	0.0009	0	0.005	0.63226	D	0.006	0.70582	D	0.999	0.77913	D	0.933	0.66815	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.975	0.85398	M	2.58	0.13434	T	-3.57	0.68999	D	0.746	0.74553	-0.9985	0.30339	T	0.104	0.38316	T	10	0.020676255	0.00480	T	0.034179	0.55498	D	0.168	0.42943	0.505	0.59924	0.558499945537	0.55510	0.6649968231600597	0.66436	0.371821823415	0.38682	0.680262207985	0.64306	T	0.422087	0.77327	T	-0.44022	0.01289	T	-0.406911	0.32582	T	0.0297855465913515	0.01956	T	0.840716	0.52386	T	0.47703093	0.65719	0.4187881	0.65892	0.4407525	0.63451	0.3942808	0.64125	-5.226	0.39205	T	.	.	0.504	0.66532	A	.;.;.	.;.;.	3.672564	0.52235	23.2	0.99819155261617198	0.90238	0.95839	0.66374	D	AEFBI	0.744547	0.68750	D	0.584414928389076	0.72203	5.768671	0.524843655060027	0.69666	5.393095	0.999973074015686	0.50053	0.549168	0.22868	0	0.588015	0.36545	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	5.85	4.98	0.65679	2.584000	0.45768	3.374000	0.37954	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.755000	0.35964	0.0:0.8586:0.0:0.1414	11.039	0.47035	530	0.73653	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1790.98	35	chr7	23260029	.	C	G	1790.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.000e-03;DP=881;ExcessHet=0.0000;FS=1.851;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.06;ReadPosRankSum=-1.179e+00;SOR=0.837	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1167	20	0	1	0
chr7	23270036	23270036	C	G	exonic	GPNMB	.	nonsynonymous SNV	GPNMB:NM_001005340:exon9:c.C1326G:p.S442R	.	.	420	1096	6	0	0	6	0.00272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.411	B	0.156	B	0.119	N	1.000	N	1.245	L	2.52	T	-1.026	T	0.025	T	0.181	1.976	12.57	3.19	1.512	0.047	3.927	0.028	0.0135042549482	0.0002	0.000199681	0.0003	0	0.0004	0	0	0.0005	0.0033	6.056e-05	0.0003169	49	154602	rs201324416	0.0004	0.0004	0.0004	0.0004	0.0038	0.0004	0.0004	0.0026	0.0022	0.0002	0.0010	0.0039	0	3.744e-05	0.0038	0.0003	0.0008	0.0003	0.0004	0.0004	0.0004	0.0005	0.0016	0.0003	0.0003	0.0011	0.0009	4.814e-05	0	0.0016	0.0026	0	0	0.0034	0.0004	0.0014	0	0.011	0.57480	D	0.006	0.70582	D	0.302	0.35101	B	0.075	0.28327	B	0.119324	0.19078	N	0.550372	1	0.08975	N	1.24	0.30952	L	2.52	0.14284	T	-1.72	0.40850	N	0.249	0.29313	-1.0262	0.21690	T	0.025	0.10733	T	10	0.009191394	0.00208	T	0.013504	0.32951	T	0.028	0.06331	0.418	0.45873	0.363356657567	0.35953	0.42331066520073085	0.42248	0.0812915399549	0.09147	0.30528485775	0.11194	T	0.154275	0.49549	T	-0.556219	0.00267	T	-0.617298	0.11398	T	0.0176616899531179	0.00498	T	0.692631	0.35772	T	0.121337906	0.28535	0.118776895	0.28671	0.13537592	0.31420	0.090887845	0.21339	-5.145	0.38377	T	.	.	0.346	0.56304	A	.;.;.	.;.;.	1.366320	0.17758	13.35	0.97972316942777249	0.37261	0.31133	0.24260	N	AEFDBHCI	0.280975	0.39466	N	-0.550998794398071	0.20452	1.078265	-0.585051820037171	0.19883	1.068754	0.899729536003338	0.26058	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.03	3.19	0.35720	0.265000	0.18282	0.149000	0.15269	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.004000	0.06068	0.1357:0.5715:0.1512:0.1415	3.927	0.08768	511	0.75131	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1622.98	33	chr7	23270036	.	C	G	1622.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.332;DP=852;ExcessHet=0.0000;FS=3.360;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.09;ReadPosRankSum=1.28;SOR=1.056	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1280	20	0	1	0
chr7	23274204	23274204	G	T	exonic	GPNMB	.	stopgain	GPNMB:NM_001005340:exon11:c.G1699T:p.E567X	.	.	429	1089	4	0	0	4	0.00183318	.	.	700006	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.817	19.38	0.235	0.308	0.364	4.262	.	.	0.0036	0.00419329	0.0091	0.0007	0.0006	0	0.0664	0.0088	0.0154	0.0027	0.0080206	1240	154602	rs11537976	0.0065	0.0065	0.0065	0.0064	0.0043	0.0064	0.0063	0.0042	0.0041	0.0006	0.0016	0.0085	0	0.0697	0.0012	0.0043	0.0066	0.0029	0.0080	0.0081	0.0055	0.0107	0.0051	0.0077	0.0075	0.0046	0.0044	0.0008	0	0.0022	0.0092	0	0.0719	0.0034	0.0051	0.0052	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998413	0.44886	D	.	.	.	.	.	.	.	.	.	0.519	0.55019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196812	0.73595	D	0.512542	0.94890	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant;.	.;High;.	6.715099	0.95633	35	0.97589917894241351	0.34786	0.12594	0.17363	N	AEFBI	0.131986	0.25112	N	0.133487670278204	0.48030	3.020667	-0.288374974748457	0.28480	1.588315	0.999582376456521	0.40607	0.615465	0.37627	0	0.587265	0.34161	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	0.235	0.235	0.14697	0.365000	0.20076	-1.161000	0.06152	0.373000	0.20310	0.006000	0.17386	0.000000	0.08366	0.453000	0.27962	0.3027:0.0:0.6973:0.0	4.262	0.10196	512	0.75040	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	564.98	33	chr7	23274204	.	G	T	564.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.286;DP=688;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=0.160;SOR=0.850	GT:AD:DP:GQ:PL	0/0:23,0:23:60:0,60,900	20	0	1	0
chr7	23781504	23781504	A	G	exonic	STK31	.	nonsynonymous SNV	STK31:NM_001260504:exon16:c.A1982G:p.H661R	.	.	449	1021	49	3	0	55	0.0262279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.182	N	0.989	N	0.46	N	1.58	T	-1.020	T	0.070	T	0.163	-1.497	0.017	-0.062	-0.017	0.944	10.015	0.064	.	0.0045	0.0103834	0.0079	0.0009	0.0026	0.0002	0.0003	0.0066	0.0111	0.0278	0.0073996	1144	154602	rs41273999	0.0060	0.0061	0.0053	0.0067	0.0278	0.0059	0.0059	0.0269	0.0265	0.0011	0.0030	0.0096	7.602e-05	0.0010	0.0209	0.0048	0.0079	0.0278	0.0042	0.0042	0.0038	0.0045	0.0263	0.0039	0.0038	0.0226	0.0212	0.0008	0	0.0044	0.0078	0	0.0005	0.0068	0.0053	0.0047	0.0263	0.662	0.04671	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.182217	0.17072	N	0.505693	0.988811	0.24368	N	0.49	0.13296	N	-0.15	0.65192	T	-0.35	0.12847	N	0.173	0.37301	-1.0199	0.23747	T	0.070	0.28708	T	10	0.0037102103	0.00068	T	.	.	.	0.064	0.18567	.	.	0.489938136499	0.48625	0.3644048311763441	0.36354	0.0671763946976	0.07503	0.306679606438	0.11405	T	7.55E-4	0.00354	T	-0.516774	0.00459	T	-0.494814	0.22886	T	0.000411108664880323	0.00003	T	0.60444	0.23473	T	0.040007167	0.05631	0.057216644	0.10363	0.040007167	0.05631	0.057216644	0.10362	-2.327	0.04705	T	.	.	0.054	0.00478	B	.;.;.	.;.;.	1.417616	0.18337	13.68	0.17921150690072041	0.00542	0.43593	0.27132	N	AEFI	0.079134	0.15977	N	-0.806970563940849	0.13132	0.644779	-0.670014664965709	0.17712	0.9430189	1.64631360154252E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.07	-0.0622	0.13113	0.959000	0.28838	0.915000	0.22659	0.691000	0.84096	0.997000	0.40164	0.408000	0.24745	0.927000	0.46353	0.4894:0.0:0.5106:0.0	10.015	0.41180	606	0.67383	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2548.11	111	chr7	23781504	.	A	G	2548.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.268;DP=897;ExcessHet=0.1072;FS=1.015;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.08;ReadPosRankSum=2.34;SOR=0.796	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1166	19	0	2	0
chr7	24679250	24679250	G	C	exonic	MPP6	.	nonsynonymous SNV	MPP6:NM_001303037:exon10:c.G1234C:p.G412R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.993	D	0.000	D	1.000	D	3.405	M	1.91	T	-0.415	T	0.264	T	0.866	5.255	33	5.97	2.837	9.869	20.428	0.565	0.0886706389413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.893e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.028	0.55759	D	0.999	0.77913	D	0.993	0.81110	D	0.000068	0.52346	D	0.000000	1	0.81001	D	3.825	0.95591	H	1.91	0.23283	T	-5.24	0.88767	D	0.856	0.85238	-0.4146	0.71563	T	0.264	0.63501	T	10	0.9472613	0.94054	D	0.088671	0.75178	D	0.565	0.82232	0.888	0.97226	0.587908032676	0.58465	0.920303388007737	0.92006	1.64548930497	0.89442	0.907022356987	0.97181	D	0.169855	0.51739	T	0.248509	0.78461	D	0.119189	0.78181	D	0.998522460460663	0.94393	D	0.987151	0.95601	D	0.8591695	0.88022	0.84184295	0.90960	0.8591695	0.88023	0.84184295	0.90961	-9.597	0.71461	D	.	.	0.845	0.79479	P	.;.;.	.;.;.	5.444100	0.90971	32	0.99944870263808461	0.99886	0.99312	0.94338	D	AEFBI	0.914214	0.87727	D	1.09138995377365	0.97971	17.14312	1.04387370962903	0.99310	21.83092	0.999999999999811	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.97	5.97	0.96935	10.003000	0.99689	11.820000	0.97208	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.428	0.99077	615	0.66512	Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	256.11	76	chr7	24679250	.	G	C	256.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.838e+00;DP=1517;ExcessHet=0.1072;FS=306.930;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=1.08;ReadPosRankSum=2.56;SOR=8.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:67,0:67:99:.:.:0,120,1800	19	0	2	0
chr7	24687601	24687601	G	T	exonic	MPP6	.	nonsynonymous SNV	MPP6:NM_001303037:exon12:c.G1610T:p.S537I	.	.	427	1074	20	1	0	22	0.0101382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.913	P	0.66	P	0.000	D	1.000	D	2.81	M	3.34	T	-1.113	T	0.072	T	0.935	4.432	23.6	5.98	2.834	5.285	20.445	0.350	0.0439885719245	0.0007	0.00179712	0.0020	9.681e-05	0.0003	0	0	0.0011	0.0011	0.0099	0.001837	284	154602	rs142149525	0.0013	0.0014	0.0011	0.0016	0.0141	0.0013	0.0013	0.0116	0.0107	0.0001	0.0007	0.0019	2.537e-05	3.751e-05	0.0141	0.0008	0.0016	0.0102	0.0009	0.0009	0.0007	0.0010	0.0104	0.0008	0.0007	0.0081	0.0073	0.0001	0	0.0007	0.0012	0	9.439e-05	0.0102	0.0008	0.0033	0.0104	0.001	0.91255	D	0.002	0.79402	D	0.913	0.50474	P	0.66	0.52803	P	0.000001	0.62929	D	0.000000	1	0.81001	D	3	0.85872	M	3.34	0.08194	T	-4.54	0.78472	D	0.624	0.65245	-1.1129	0.02832	T	0.072	0.29195	T	10	0.012391508	0.00266	T	0.043989	0.61262	D	0.350	0.67142	.	.	0.610883664196	0.60775	0.8922022150819102	0.89190	1.14449723415	0.79039	0.701496481895	0.67360	T	0.251316	0.62155	T	-0.0935965	0.37480	T	0.10017	0.76919	D	0.133596318129755	0.15710	T	0.987501	0.95747	D	0.51981324	0.68249	0.6000708	0.76767	0.51981324	0.68250	0.6000708	0.76768	-9.571	0.71301	D	.	.	0.492	0.64695	A	.;.;.	.;.;.	4.461684	0.69446	25.4	0.99564366136587557	0.71953	0.98074	0.79377	D	AEFGBI	0.613563	0.60121	D	0.770493349038317	0.84231	8.230658	0.777722671291852	0.88204	9.495794	0.999999016047173	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.98	5.98	0.97147	5.389000	0.66004	7.522000	0.59778	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.445	0.99125	613	0.66686	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	479.98	34	chr7	24687601	.	G	T	479.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.680e+00;DP=740;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.60;ReadPosRankSum=-7.630e-01;SOR=0.658	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1227	20	0	1	0
chr7	24717307	24717307	G	A	exonic	GSDME	.	nonsynonymous SNV	GSDME:NM_001127454:exon4:c.C152T:p.T51I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.973	D	0.000	D	1.000	D	2.505	M	1.79	T	-0.781	T	0.190	T	0.849	4.662	25.7	5.7	2.676	6.003	18.585	0.189	0.0225671657234	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1479230371	3.422e-06	3.42e-06	4.085e-06	2.751e-06	4.475e-05	1e-06	7.3e-07	7.42e-06	2.78e-06	0	4.475e-05	0	0	0	0	1.799e-06	0	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.973	0.72923	D	0.000002	0.62929	D	0.100834	1	0.81001	D	.	.	.	1.79	0.25509	T	-4.35	0.81350	D	0.9	0.92550	-0.7808	0.56257	T	0.190	0.54123	T	10	0.8200856	0.81219	D	0.022567	0.45471	T	0.359	0.67962	0.703	0.83962	0.790563973083	0.78861	0.8890517879856703	0.88874	0.271740391877	0.29688	0.557534098625	0.46919	T	0.405963	0.76200	T	0.146453	0.68935	D	0.055459	0.73944	D	0.985672116279602	0.76598	D	0.836416	0.64401	T	0.6843428	0.77203	0.6609368	0.80133	0.6843428	0.77205	0.6609368	0.80134	-9.636	0.71703	D	0.9522166120838702	0.98303	0.638	0.76129	P	.;.;.;.;.;.	.;.;.;.;.;.	4.685007	0.75006	26.3	0.99909872638415098	0.97949	0.87131	0.46579	D	AEFDBCI	0.722529	0.67243	D	0.844103953155846	0.88768	9.704864	0.819697021047637	0.91128	10.73237	0.999999999878119	0.74766	0.706298	0.61202	0	0.672317	0.65289	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.7	5.7	0.88690	6.580000	0.73930	11.805000	0.96765	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:1.0:0.0	18.585	0.91140	621	0.65931	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1851.98	35	chr7	24717307	.	G	A	1851.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=900;ExcessHet=0.0000;FS=4.497;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=1.15;SOR=0.890	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1154	20	0	1	0
chr7	24834734	24834734	G	A	exonic	OSBPL3	.	nonsynonymous SNV	OSBPL3:NM_145322:exon12:c.C1297T:p.P433S	.	.	.	.	.	.	.	.	.	.	.	2391885	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.55	T	0.007	B	0.008	B	0.691	N	1.000	N	1.61	L	2.29	T	-0.967	T	0.097	T	0.114	0.615	7.309	5.14	1.556	2.219	5.578	0.077	0.0162391659496	.	.	8.642e-06	0	0	0	0	0	0	7.666e-05	1.29e-05	2	154602	rs765716332	4.283e-05	4.241e-05	4.534e-05	4.029e-05	0.0004	3.41e-05	3.095e-05	6.183e-05	3.423e-05	0.0001	0	0	2.524e-05	0	0.0004	4.879e-05	1.673e-05	0	6.569e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.769	0.03834	T	0.6	0.07946	T	0.0	0.02946	B	0.001	0.08700	B	0.691135	0.06147	N	1.117940	0.999999	0.08975	N	1.04	0.26193	L	2.26	0.43672	T	0.59	0.04533	N	0.154	0.24010	-0.9667	0.37874	T	0.097	0.36315	T	10	0.049428374	0.04530	T	0.016239	0.37399	T	0.077	0.22490	0.25	0.18757	0.475034548194	0.47131	0.22413022352895262	0.22328	0.216627793868	0.24185	0.302959114313	0.10843	T	0.015361	0.12902	T	-0.38766	0.02785	T	-0.618776	0.11280	T	0.0233248875301383	0.01062	T	0.683732	0.29211	T	0.028188843	0.02119	0.04260511	0.05114	0.028188843	0.02119	0.04260511	0.05113	-2.562	0.06323	T	.	.	0.081	0.08802	B	.;.;.;.	.;.;.;.	1.069181	0.14516	11.08	0.85154037635374513	0.15718	0.03528	0.08716	N	AEFBCI	0.060226	0.11432	N	-0.605521208301719	0.18778	0.9776099	-0.560303832167894	0.20533	1.106657	0.999996405201083	0.74766	0.706548	0.73137	0	0.587265	0.34161	0	0.49644	0.08281	0	0.714379	0.83352	0	.	.	6.02	5.14	0.70008	1.871000	0.39176	7.624000	0.62436	0.618000	0.50648	0.034000	0.20669	1.000000	0.68203	0.092000	0.17891	0.1951:0.1603:0.6446:0.0	5.578	0.16515	719	0.55657	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	394.98	40	chr7	24834734	.	G	A	394.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.444e+00;DP=797;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.63;ReadPosRankSum=0.588;SOR=0.490	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr7	24849088	24849088	G	A	exonic	OSBPL3	.	nonsynonymous SNV	OSBPL3:NM_145320:exon10:c.C1154T:p.S385L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.001	B	0.002	B	0.961	N	1.000	D	1.67	L	2.18	T	-1.072	T	0.099	T	0.064	2.805	15.34	0.958	-0.115	1.236	8.942	0.093	0.0136069466471	.	.	4.956e-05	0	0.0003	0	0	1.501e-05	0	0.0001	4.53e-05	7	154602	rs374832998	5.27e-05	5.336e-05	5.584e-05	4.953e-05	0.0002	4.28e-05	3.955e-05	8.865e-05	6.43e-05	8.968e-05	0.0002	0	0	0	0.0002	5.579e-05	1.657e-05	2.32e-05	1.971e-05	1.97e-05	1.284e-05	2.69e-05	6.54e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.54e-05	0	0	0	0	2.94e-05	0	0	0.12	0.27904	T	0.08	0.41913	T	0.001	0.07471	B	0.001	0.06944	B	0.960873	0.07716	N	1.015890	0.993297	0.50225	D	-0.255	0.03828	N	2.18	0.46412	T	-0.9	0.32387	N	0.274	0.33250	-1.0717	0.09043	T	0.099	0.37009	T	10	0.070949435	0.10392	T	0.013607	0.33144	T	0.093	0.26882	.	.	0.468336420597	0.46460	0.14350986431592538	0.14273	0.190206034257	0.21337	0.337577372789	0.16075	T	0.021493	0.16725	T	-0.478604	0.00753	T	-0.640544	0.09630	T	0.0613350988697026	0.07377	T	0.819218	0.47714	T	0.033099405	0.03462	0.051336657	0.08240	0.033099405	0.03461	0.051336657	0.08239	-4.573	0.31831	T	.	.	0.077	0.06479	B	.;.	.;.	2.235404	0.28541	17.83	0.99487395558540848	0.67235	0.69110	0.34059	D	AEFDBIJ	0.074563	0.14948	N	-0.357629350569142	0.26993	1.477533	-0.245157266034499	0.29937	1.681447	0.985235830323166	0.30852	0.706548	0.73137	0	0.653731	0.59785	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.69	0.958	0.18741	1.214000	0.32023	1.233000	0.25056	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.976000	0.56436	0.3299:0.0:0.6701:0.0	8.942	0.34896	773	0.48803	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1013.98	34	chr7	24849088	.	G	A	1013.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.02;DP=878;ExcessHet=0.0000;FS=1.591;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.57;ReadPosRankSum=0.673;SOR=0.904	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1356	20	0	1	0
chr7	26152717	26152717	C	G	exonic	NFE2L3	.	nonsynonymous SNV	NFE2L3:NM_004289:exon1:c.C219G:p.H73Q,	.	.	427	1071	24	0	0	24	0.0110803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.0	B	0.0	B	0.259	N	1.000	N	-0.205	N	2.17	T	-0.994	T	0.026	T	0.079	-1.631	0.013	-3.4	-0.876	-0.300	10.514	0.028	.	.	0.000998403	0.0064	0	0	0	0	0.0242	0	0.0017	0.0007568	117	154602	rs576398496	0.0018	0.0018	0.0017	0.0018	0.0173	0.0017	0.0017	0.0140	0.0128	0.0004	0.0027	0.0349	0	3.072e-05	0.0173	0.0009	0.0054	0.0018	0.0019	0.0019	0.0020	0.0018	0.0024	0.0017	0.0017	0.0017	0.0015	0.0002	0	0.0024	0.0331	0	0	0.0137	0.0015	0.0071	0.0021	0.735	0.03753	T	0.673	0.06245	T	0.0	0.02946	B	0.0	0.01387	B	0.259267	0.03698	N	1.504130	1	0.08975	N	-0.69	0.01958	N	2.17	0.19020	T	0.22	0.04694	N	0.083	0.05929	-0.9941	0.31538	T	0.026	0.10954	T	10	0.003213942	0.00055	T	.	.	.	0.028	0.06331	0.147	0.05039	0.16115917748	0.15686	0.12624696372789396	0.12550	0.889988259667	0.70188	0.630593597889	0.57230	T	0.020447	0.16099	T	-0.678624	0.00049	T	-0.752499	0.03390	T	0.00425036761370737	0.00045	T	0.114889	0.00874	T	0.0308307	0.02815	0.030504718	0.01515	0.0308307	0.02815	0.030504718	0.01514	-3.212	0.12628	T	.	.	0.070	0.03372	B	.	.	0.181764	0.05692	2.139	0.50496829366368179	0.04394	0.00222	0.01252	N	AEFDBHCI	0.010430	0.00074	N	-1.72205867734724	0.00766	0.03310011	-1.74082218110768	0.00968	0.04337366	0.999999876021267	0.74766	0.733237	0.96898	0	0.484254	0.07192	0	0.600757	0.32118	0	0.627883	0.49187	0	.	.	4.13	-3.4	0.04549	-0.458000	0.06813	0.051000	0.14001	-1.193000	0.01371	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.0:0.5025:0.2669:0.2307	10.514	0.44066	834	0.38640	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	209.98	31	chr7	26152717	.	C	G	209.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=659;ExcessHet=0.0000;FS=1.481;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.38;ReadPosRankSum=-2.000e-01;SOR=1.048	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,902	20	0	1	0
chr7	26185116	26185116	G	C	exonic	NFE2L3	.	nonsynonymous SNV	NFE2L3:NM_004289:exon4:c.G1418C:p.S473T,	.	.	419	1084	19	0	0	19	0.0086877	.	.	2828353	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.09	T	0.001	B	0.002	B	0.683	N	1.000	N	1.61	L	1.36	T	-0.989	T	0.069	T	0.113	-0.019	3.919	1.49	0.074	-0.477	2.335	0.027	0.0056447648091	0.0028	0.000998403	0.0022	0.0003	0.0018	0	0	0.0034	0.0022	0.0011	0.0003687	57	154602	rs148970492	0.0017	0.0017	0.0017	0.0018	0.0217	0.0017	0.0017	0.0186	0.0174	0.0004	0.0025	0.0351	0	1.873e-05	0.0217	0.0008	0.0052	0.0014	0.0018	0.0018	0.0019	0.0017	0.0025	0.0016	0.0016	0.0016	0.0014	0.0002	0	0.0022	0.0331	0	0	0.0102	0.0013	0.0057	0.0025	0.091	0.31834	T	0.39	0.15506	T	0.001	0.07471	B	0.002	0.06944	B	0.683167	0.10241	N	0.878634	1	0.08975	N	2.455	0.71248	M	1.36	0.34452	T	-1.68	0.40082	N	0.085	0.06190	-0.9893	0.32778	T	0.069	0.28379	T	10	0.0036691427	0.00067	T	0.005645	0.14591	T	0.027	0.05988	.	.	0.343788945184	0.33981	0.1470148266944232	0.14623	0.00116936903274	0.00099	0.240790098906	0.02861	T	0.079789	0.36211	T	-0.589835	0.00168	T	-0.62496	0.10799	T	0.00694223880851506	0.00079	T	0.325667	0.06705	T	0.07156396	0.15854	0.05256115	0.08682	0.07156396	0.15854	0.05256115	0.08681	-4.556	0.31614	T	.	.	0.085	0.10062	B	.	.	-0.642518	0.01459	0.089	0.91445454571320628	0.20715	0.00190	0.01102	N	AEFDGBHCI	0.138395	0.25968	N	-0.822262829471552	0.12742	0.6230694	-0.87154998205728	0.12770	0.6588193	0.999999978988595	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.46	1.49	0.21966	-0.474000	0.06686	-0.990000	0.06682	-1.937000	0.00494	0.000000	0.06391	0.000000	0.08366	0.116000	0.19000	0.2138:0.3675:0.2934:0.1253	2.335	0.03986	752	0.51611	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2079.98	38	chr7	26185116	.	G	C	2079.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.903;DP=840;ExcessHet=0.0000;FS=1.389;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.74;MQRankSum=-9.300e-01;QD=14.86;ReadPosRankSum=-2.868e+00;SOR=0.887	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1333	20	0	1	0
chr7	27094575	27094578	ACCC	-	exonic	HOXA1	.	frameshift deletion	HOXA1:NM_005522:exon2:c.870_873del:p.E290Dfs*41,	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	2015.4	153	chr7	27094574	.	GACCC	G	2015.4	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-1.128e+00;DP=1455;ExcessHet=1.1607;FS=134.511;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=2.43;ReadPosRankSum=1.51;SOR=10.150	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1269	16	0	5	0
chr7	27094578	27094578	-	GGGG	exonic	HOXA1	.	frameshift insertion	HOXA1:NM_005522:exon2:c.869_870insCCCC:p.E290Dfs*128,	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1814.7	153	chr7	27094578	.	C	CGGGG	1814.7	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-1.330e+00;DP=1572;ExcessHet=1.1607;FS=125.938;InbreedingCoeff=-0.1507;MLEAC=4;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=2.28;ReadPosRankSum=1.71;SOR=9.967	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:168,0:168:0:.:.:0,0,4272	15	0	5	1
chr7	27095695	27095695	C	0	exonic	HOXA1	.	.	.	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	13	23	341	1132	13	2618	0.982648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	87514.16	141	chr7	27095695	.	C	T,*	87514.16	.	AC=39,2;AF=0.929,0.048;AN=42;BaseQRankSum=2.30;DP=3040;ExcessHet=0.0000;FS=1.549;InbreedingCoeff=-0.0244;MLEAC=39,2;MLEAF=0.929,0.048;MQ=60.00;MQRankSum=0.00;QD=30.42;ReadPosRankSum=-1.188e+00;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,145,0:145:99:.:.:4948,435,0,4790,440,5266	0	18	1	0
chr7	27156238	27156238	T	C	exonic	HOXA7	.	nonsynonymous SNV	HOXA7:NM_006896:exon1:c.A308G:p.K103R,	.	.	415	1095	12	0	0	12	0.00544959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.893	P	0.402	B	0.000	D	0.869	D	1.875	L	-2.75	D	0.207	D	0.426	T	0.073	2.697	14.98	5.59	2.136	3.558	15.771	0.361	.	0.0056	0.0141773	0.0102	0.0323	0.0193	0	0	0.0040	0.0173	0.0204	0.0060154	930	154602	rs35510017	0.0035	0.0035	0.0032	0.0039	0.0200	0.0034	0.0034	0.0188	0.0183	0.0200	0.0096	0.0050	7.596e-05	0	0.0195	0.0018	0.0066	0.0168	0.0087	0.0087	0.0080	0.0094	0.0200	0.0083	0.0081	0.0189	0.0184	0.0200	0	0.0122	0.0046	0	9.406e-05	0.0578	0.0021	0.0175	0.0184	0.191	0.21066	T	0.421	0.14075	T	0.893	0.49136	P	0.402	0.44547	B	0.000058	0.53742	D	0.123621	0.868877	0.35525	D	1.59	0.40313	L	-2.75	0.90792	D	-0.79	0.21860	N	0.368	0.40963	0.207	0.86025	D	0.426	0.76969	T	10	0.0062873065	0.00142	T	.	.	.	0.361	0.68141	.	.	0.870290592605	0.86902	0.4730644349732166	0.47225	1.07468009698	0.76925	0.681364357471	0.64464	T	0.067694	0.33267	T	-0.394623	0.02510	T	-0.32403	0.42131	T	0.0216822671136913	0.00873	T	0.571443	0.20372	T	0.16014619	0.35936	0.25390467	0.51046	0.16014619	0.35936	0.25390467	0.51045	-4.448	0.30203	T	.	.	0.081	0.08224	B	.	.	3.368921	0.46543	22.3	0.98907069079365495	0.48290	0.93334	0.57939	D	ALL	0.699897	0.65709	D	0.38223975594174	0.60459	4.235092	0.433716534570468	0.63678	4.606424	0.999999999999995	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.581474	0.35302	0	.	.	5.59	5.59	0.84677	5.803000	0.68791	6.137000	0.53999	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.771	0.77938	203	0.92088	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1036.98	33	chr7	27156238	.	T	C	1036.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.500e-01;DP=755;ExcessHet=0.0000;FS=1.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.73;ReadPosRankSum=1.50;SOR=0.850	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr7	27199633	27199633	C	A	exonic	HOXA13	.	nonsynonymous SNV	HOXA13:NM_000522:exon1:c.G445T:p.A149S,	Guttmacher syndrome, Autosomal dominant;Hand-foot-uterus syndrome, Autosomal dominant	.	12	1509	1	0	0	1	0.000331236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.058	B	0.07	B	0.000	N	0.993	N	-0.295	N	0.88	T	-1.000	T	0.039	T	0.121	1.017	9.154	1.01	0.513	2.463	6.824	0.047	0.0742161350666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.677	0.04469	T	0.593	0.08134	T	0.058	0.22967	B	0.07	0.27859	B	0.000062	0.52346	N	0.127630	0.992947	0.23798	N	0.175	0.09039	N	0.88	0.46028	T	-0.16	0.09460	N	0.21	0.23380	-1.0001	0.29888	T	0.039	0.16806	T	10	0.08209431	0.13510	T	0.074216	0.71985	D	0.047	0.12962	0.272	0.22210	0.31501682445	0.31101	0.29358053864189454	0.29271	.	.	0.925539374352	0.98716	D	0.044129	0.26721	T	-0.245592	0.14645	T	-0.590552	0.13618	T	0.201016992330551	0.20472	T	0.585041	0.21304	T	0.10791442	0.25517	0.12775499	0.30749	0.10791442	0.25516	0.12775499	0.30748	-4.852	0.35191	T	0.11821594795425325	0.10884	0.099	0.16494	B	.;.	.;.	3.118420	0.42087	21.5	0.92833861410432228	0.22367	0.74833	0.36618	D	AEFDBHCIJ	0.343496	0.43929	N	-0.702645299152941	0.15946	0.8082261	-0.568001966864453	0.20329	1.09482	0.999994149816344	0.74766	0.437478	0.07067	0	0.59043	0.45803	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.31	1.01	0.19044	0.884000	0.27851	2.862000	0.35209	0.451000	0.21329	0.974000	0.34632	1.000000	0.68203	0.990000	0.65344	0.0:0.5508:0.323:0.1262	6.824	0.23056	311	0.87433	Homeobox protein Hox1A3 N-terminal;Homeobox protein Hox1A3 N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	644.98	50	chr7	27199633	.	C	A	644.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.172e+00;DP=852;ExcessHet=0.0000;FS=4.404;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.44;ReadPosRankSum=0.211;SOR=0.268	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,108,1620	20	0	1	0
chr7	27526309	27526309	C	T	exonic	HIBADH	.	nonsynonymous SNV	HIBADH:NM_152740:exon8:c.G916A:p.A306T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.063	B	0.082	B	0.000	D	1.000	D	2.16	M	1.21	T	-0.980	T	0.109	T	0.413	3.730	18.94	4.29	2.937	4.608	12.344	0.149	0.0142137816896	.	.	1.666e-05	0	0	0	0	3.017e-05	0	0	1.29e-05	2	154602	rs757064892	8.212e-06	8.893e-06	5.447e-06	1.101e-05	8.995e-06	4.38e-06	3.46e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.995e-06	3.313e-05	0	1.314e-05	1.313e-05	0	2.687e-05	.	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0068	0	0	0	0.076	0.34269	T	0.054	0.47097	T	0.063	0.23376	B	0.082	0.29098	B	0.000000	0.84330	D	0.046961	1	0.81001	D	2.76	0.80626	M	1.21	0.37230	T	-3.32	0.66085	D	0.374	0.41557	-0.9797	0.35071	T	0.109	0.39320	T	10	0.34283915	0.51307	T	0.014214	0.34172	T	0.149	0.39377	0.677	0.81496	0.330069100803	0.32608	0.8314184113167277	0.83100	0.0726635100524	0.08142	0.607596158981	0.53976	T	0.258365	0.62951	T	-0.0617959	0.42626	T	-0.311056	0.43546	T	0.912802040576935	0.56884	D	0.891611	0.62654	D	0.62535787	0.74050	0.44749606	0.67827	0.62535787	0.74051	0.44749606	0.67827	-8.666	0.65523	D	.	.	0.277	0.51050	B	.	.	4.167138	0.62622	24.5	0.99726427171640852	0.82406	0.97222	0.73412	D	AEFDGBI	0.593210	0.58862	D	0.221944653545963	0.52263	3.401623	0.36700704410728	0.59539	4.132574	0.963454676188076	0.28692	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.16	4.29	0.50359	4.665000	0.61241	3.358000	0.37837	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.994000	0.71098	0.121:0.8147:0.0:0.0643	12.344	0.54437	779	0.47767	3-hydroxyisobutyrate dehydrogenase, NAD-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1008.98	41	chr7	27526309	.	C	T	1008.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.200e-01;DP=762;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.52;ReadPosRankSum=0.616;SOR=0.614	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1249	20	0	1	0
chr7	27787572	27787572	A	G	exonic	TAX1BP1	.	nonsynonymous SNV	TAX1BP1:NM_001206902:exon7:c.A536G:p.Q179R	.	.	431	1086	4	1	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.237	B	0.186	B	0.074	N	0.952	N	1.04	L	3.0	T	-1.010	T	0.019	T	0.227	3.305	17.11	5.98	2.288	6.506	16.478	0.105	0.00483258282072	0.0065	0.00179712	0.0048	0.0012	0.0010	0	0.0038	0.0072	0.0033	0.0030	0.0049094	759	154602	rs143687148	0.0069	0.0069	0.0070	0.0068	0.0083	0.0068	0.0068	0.0081	0.0081	0.0013	0.0016	0.0002	0	0.0034	0.0005	0.0083	0.0052	0.0036	0.0040	0.0040	0.0041	0.0038	0.0069	0.0037	0.0036	0.0063	0.0061	0.0012	0	0.0027	0	0	0.0019	0.0034	0.0069	0.0043	0.0033	0.388	0.14064	T	0.862	0.07518	T	0.017	0.25437	B	0.062	0.30857	B	0.074495	0.21281	N	0.393637	0.951963	0.26454	N	1.745	0.45235	L	3.0	0.09167	T	-0.97	0.29933	N	0.274	0.40164	-1.0099	0.26949	T	0.019	0.08033	T	10	0.008523554	0.00193	T	0.004833	0.12098	T	0.105	0.29889	.	.	0.399596177874	0.39575	0.23626386822353904	0.23541	0.307094407548	0.33010	0.3120251894	0.12213	T	0.133202	0.46375	T	-0.523103	0.00422	T	-0.516359	0.20664	T	0.0222177884636863	0.00933	T	0.805819	0.46129	T	0.11873953	0.27970	0.12128908	0.29265	0.11873953	0.27970	0.12128908	0.29265	-8.442	0.64337	D	.	.	0.090	0.16929	B	.;.;.;.;.	.;.;.;.;.	2.645514	0.34434	19.63	0.99604782926212965	0.74456	0.97839	0.77515	D	AEFGBI	0.747813	0.68975	D	-0.00269411986244252	0.41734	2.501604	0.210865513949011	0.50450	3.236878	0.999999994258441	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.98	5.98	0.97147	6.498000	0.73585	7.997000	0.76135	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.478	0.83988	500	0.76024	.;.;.;Calcium binding and coiled-coil domain-like;Calcium binding and coiled-coil domain-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	465.98	34	chr7	27787572	.	A	G	465.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.00;DP=773;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=1.33;SOR=0.752	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	20	0	1	0
chr7	27827745	27827745	A	G	exonic	TAX1BP1	.	nonsynonymous SNV	TAX1BP1:NM_001362795:exon14:c.A1772G:p.E591G	.	.	427	1075	20	0	0	20	0.00921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.518	P	0.114	B	0.010	N	1.000	N	0.84	L	2.8	T	-1.056	T	0.050	T	0.089	1.981	12.58	4.71	1.133	4.885	6.711	0.054	0.0100391378195	.	0.00119808	0.0009	0.0002	0.0004	0	0	5.998e-05	0.0044	0.0058	0.0007568	117	154602	rs557561150	0.0005	0.0005	0.0003	0.0007	0.0060	0.0004	0.0004	0.0056	0.0054	0.0002	0.0002	0	0	0	0.0023	0.0001	0.0005	0.0060	0.0004	0.0004	0.0003	0.0005	0.0079	0.0003	0.0003	0.0059	0.0052	0.0002	0	0.0003	0	0.0002	0	0	0.0002	0	0.0079	0.133	0.26409	T	0.326	0.20422	T	0.003	0.27003	B	0.004	0.31755	B	0.010281	0.29986	N	0.229900	0.999971	0.18612	N	1.1	0.28011	L	2.76	0.34452	T	-1.67	0.43524	N	0.253	0.33030	-1.0558	0.12829	T	0.050	0.21222	T	10	0.0037594736	0.00070	T	0.010039	0.26102	T	0.054	0.15330	.	.	0.52991035303	0.52639	0.19708113009405367	0.19625	0.27360457221	0.29856	0.359190165997	0.19268	T	0.134693	0.46609	T	-0.550393	0.00290	T	-0.561182	0.16267	T	0.0307653312747144	0.02108	T	0.859214	0.55237	D	0.04913051	0.08677	0.06017375	0.11416	0.04913051	0.08676	0.06017375	0.11416	-4.464	0.30414	T	.	.	0.070	0.10642	B	.;.;.;.;.;.	.;.;.;.;.;.	3.336400	0.45955	22.2	0.99398469161555514	0.62702	0.96687	0.70405	D	AEFBI	0.784441	0.71513	D	-0.208811591779282	0.32771	1.851958	-0.0836054969567901	0.36067	2.094313	0.988689451905778	0.31595	0.732398	0.92422	0	0.709663	0.81188	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	5.87	4.71	0.59010	4.189000	0.58156	9.245000	0.79449	0.756000	0.94297	0.999000	0.42656	1.000000	0.68203	0.995000	0.73285	0.7925:0.0:0.0713:0.1362	6.711	0.22466	502	0.75873	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	604.98	33	chr7	27827745	.	A	G	604.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.240e-01;DP=758;ExcessHet=0.0000;FS=0.895;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.66;ReadPosRankSum=-8.840e-01;SOR=0.551	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1196	20	0	1	0
chr7	28956680	28956680	-	GCTGCG	exonic	TRIL	.	nonframeshift insertion	TRIL:NM_014817:exon1:c.1366_1367insCGCAGC:p.Q455_L456insPQ,	.	.	418	1100	4	0	0	4	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	8.994e-05	0	0	0.0002	0	8.472e-05	9.7e-05	15	154602	rs774355324	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	0	9.638e-05	0	0	0	0.0014	0.0002	0.0005	0.0003	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	0.0002	0.0002	2.409e-05	0	0.0001	0	0	9.427e-05	0	0.0003	0.0009	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1961.07	77	chr7	28956680	.	A	AGCTGCG	1961.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.60;DP=1225;ExcessHet=0.1072;FS=3.454;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=17.20;ReadPosRankSum=-2.820e-01;SOR=1.053	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	19	0	2	0
chr7	29072461	29072461	G	-	exonic	CPVL	.	frameshift deletion	CPVL:NM_001371264:exon11:c.614delC:p.P205Hfs*3,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	641.94	36	chr7	29072460	.	TG	T	641.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.546;DP=686;ExcessHet=0.0000;FS=3.432;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.66;ReadPosRankSum=-5.350e-01;SOR=1.429	GT:AD:DP:GQ:PL	0/0:31,0:31:81:0,81,1215	20	0	1	0
chr7	30436076	30436076	G	A	exonic	NOD1	.	nonsynonymous SNV	NOD1:NM_001354849:exon10:c.C2459T:p.A820V	.	.	418	1101	3	0	0	3	0.00136054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	1.0	D	0.98	D	0.000	D	1.000	D	1.07	L	0.58	T	-0.889	T	0.202	T	0.695	0.352	5.908	5.34	2.508	6.982	15.776	0.227	0.0249639287398	7.7e-05	.	1.654e-05	0	0	0	0	1.503e-05	0	6.08e-05	1.29e-05	2	154602	rs372554109	2.875e-05	2.941e-05	2.18e-05	3.577e-05	0.0003	2.153e-05	1.909e-05	8.888e-05	7.055e-05	0	0	0	0	0	0.0003	2.25e-05	3.314e-05	0.0002	6.569e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	0.011	0.64786	D	1.0	0.90584	D	0.98	0.74843	D	0.000001	0.84330	D	0.053432	0.999984	0.54805	D	1.325	0.33218	L	0.58	0.54149	T	-0.37	0.13226	N	0.746	0.74553	-0.8893	0.48995	T	0.202	0.55877	T	10	0.76973903	0.76986	D	0.024964	0.47953	T	0.227	0.52620	.	.	0.832295537727	0.83070	0.5176414387833589	0.51687	0.65539385403	0.58582	0.489952355623	0.37431	T	0.041611	0.25916	T	-0.0702216	0.41292	T	-0.157117	0.58609	T	0.493630349636078	0.32397	T	0.947205	0.79675	D	0.07458725	0.16748	0.114679106	0.27683	0.07458725	0.16748	0.114679106	0.27682	-3.643	0.18481	T	.	.	0.591	0.68487	P	.	.	3.628451	0.51387	23.1	0.79371502661730631	0.12711	0.98445	0.82852	D	AEFDGBI	0.559977	0.56857	D	0.276690924460759	0.54969	3.661454	0.259420927163009	0.53186	3.488914	0.999999951686319	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.34	5.34	0.75982	6.846000	0.75195	11.771000	0.95863	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.015000	0.10482	0.0:0.0:1.0:0.0	15.776	0.77992	835	0.38313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1451.98	123	chr7	30436076	.	G	A	1451.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.870e-01;DP=828;ExcessHet=0.0000;FS=5.558;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.80;ReadPosRankSum=2.51;SOR=0.363	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1289	20	0	1	0
chr7	30598875	30598875	G	A	exonic	GARS1	.	nonsynonymous SNV	GARS1:NM_001316772:exon2:c.G140A:p.R47H	.	.	1	1518	3	0	0	3	0.000987167	.	.	244499	not_provided|Distal_spinal_muscular_atrophy|Charcot-Marie-Tooth_disease_type_2|Neuronopathy,_distal_hereditary_motor,_type_5A|not_specified|Charcot-Marie-Tooth_disease_type_2D	MedGen:C3661900|MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746|MONDO:MONDO:0015353,MedGen:CN031873,OMIM:600794,Orphanet:139536|MedGen:CN169374|MONDO:MONDO:0011091,MedGen:C1832274,OMIM:601472,Orphanet:99938	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.09	T	1.0	D	0.97	D	0.000	D	1.000	D	2.8	M	1.46	T	-0.699	T	0.213	T	0.75	5.002	29.4	5.29	2.662	9.224	14.810	0.335	0.0140297148955	0.0002	0.000199681	0.0004	0	0.0003	0	0	0.0006	0.0011	6.11e-05	0.0003169	49	154602	rs200887429	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0003	0.0003	5.975e-05	0.0003	0	0	0	0.0003	0.0003	0.0002	9.275e-05	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0002	0.0003	0.0002	2.407e-05	0	0.0006	0	0	9.418e-05	0	0.0004	0	0	0.053	0.38863	T	0.353	0.17320	T	1.0	0.90584	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.46	0.32238	T	-4.37	0.77061	D	0.875	0.87265	-0.6986	0.60505	T	0.213	0.57401	T	10	0.5207992	0.62630	D	0.01403	0.33868	T	0.335	0.65718	.	.	0.488820726603	0.48513	0.654980626495586	0.65434	0.574074473097	0.53444	0.672124862671	0.63140	T	0.42117	0.77265	T	-0.14062	0.29791	T	-0.0948287	0.63795	T	0.471969485282898	0.31603	T	0.995845	0.98562	D	0.61523163	0.73508	0.3085908	0.56877	0.61523163	0.73509	0.3085908	0.56876	-12.933	0.89085	D	.	.	0.474	0.63367	A	.	.	5.895561	0.93981	33	0.99946138698159004	0.99901	0.99748	0.99172	D	AEFBI	0.925397	0.90487	D	0.931813702403865	0.93229	11.903	0.889734170197104	0.95109	13.31977	0.999999999999827	0.74766	0.706548	0.73137	0	0.662677	0.63036	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.29	5.29	0.74430	9.102000	0.93579	9.954000	0.82748	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	14.810	0.69616	738	0.53389	WHEP-TRS domain|WHEP-TRS domain|WHEP-TRS domain|WHEP-TRS domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	841.98	41	chr7	30598875	.	G	A	841.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.870e-01;DP=776;ExcessHet=0.0000;FS=0.900;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=1.03;SOR=0.549	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1230	20	0	1	0
chr7	30654806	30654806	G	C	exonic	CRHR2	.	nonsynonymous SNV	CRHR2:NM_001202483:exon12:c.C1098G:p.S366R,	.	.	417	1093	10	1	1	13	0.00545951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0018	0	0	0	0	0.0031	0	0.0014	0.0006274	97	154602	rs73085814	0.0027	0.0026	0.0027	0.0027	0.0077	0.0026	0.0026	0.0059	0.0053	0.0007	0.0012	0.0012	0	0.0010	0.0077	0.0031	0.0024	0.0011	0.0019	0.0019	0.0019	0.0019	0.0029	0.0017	0.0016	0.0026	0.0025	0.0006	0	0.0017	0.0026	0	0.0007	0.0068	0.0029	0.0052	0.0015	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	0.999683	0.20694	N	.	.	.	.	.	.	.	.	.	0.238	0.26837	.	.	.	.	.	.	.	0.011802286	0.00256	T	.	.	.	.	.	.	.	0.820988301434	0.81929	.	.	.	.	.	.	.	.	.	.	-0.353639	0.04502	T	-0.283175	0.46477	T	.	.	.	0.339066	0.07293	T	.	.	.	.	.	.	.	.	-3.503	0.16473	T	.	.	0.394	0.59211	A	.	.	1.015454	0.13947	10.51	0.80643972165332301	0.13300	0.01335	0.04597	N	AEFBI	.	.	.	.	.	.	.	.	.	0.020301903492462	0.13245	0.078448	0.01964	0	0.097471	0.02872	0	0.083675	0.02720	0	0.092715	0.02821	0	0.046875	0.06002	2.21	2.21	0.27042	0.614000	0.24009	0.472000	0.18721	0.661000	0.55757	0.001000	0.13787	0.000000	0.08366	0.244000	0.23106	0.0:0.0:1.0:0.0	8.015	0.29535	695	0.58372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2191.98	46	chr7	30654806	.	G	C	2191.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.960e-01;DP=996;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.07;ReadPosRankSum=0.158;SOR=0.718	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr7	30655662	30655662	A	G	exonic	CRHR2	.	nonsynonymous SNV	CRHR2:NM_001202482:exon10:c.T968C:p.M323T	.	.	403	1117	1	1	0	3	0.00134108	.	.	2379304	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.29	T	0.996	D	0.95	D	0.000	D	1.000	D	1.475	L	1.22	T	-0.971	T	0.155	T	0.871	3.765	19.12	5.11	2.049	9.303	13.158	0.424	0.0165391072663	7.7e-05	.	4.125e-05	0	0	0.0001	0	1.5e-05	0	0.0002	3.23e-05	5	154602	rs373659532	3.215e-05	3.215e-05	3.267e-05	3.163e-05	0.0009	2.478e-05	2.221e-05	0.0003	0.0002	2.987e-05	0	0	0	0	0.0009	1.169e-05	6.623e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.984	0.67487	D	0.917	0.68788	D	0.000000	0.84330	D	0.037397	1	0.81001	D	0.99	0.25021	L	1.22	0.37052	T	-3.03	0.62747	D	0.844	0.84922	-0.9710	0.36988	T	0.155	0.48568	T	10	0.70503724	0.72683	D	0.016539	0.37845	T	0.424	0.73226	.	.	0.738048952288	0.73570	0.6963197846827153	0.69572	0.438787105072	0.43904	0.844663619995	0.88806	D	0.261677	0.63318	T	0.0307936	0.55828	T	0.0807561	0.75628	D	0.471743229612136	0.31595	T	0.851115	0.68064	D	0.7905998	0.83310	0.73432237	0.84298	0.7905998	0.83312	0.73432237	0.84299	-9.797	0.74223	D	.	.	0.616	0.71497	P	.;.;.;.	.;.;.;.	4.626426	0.73518	26.0	0.99305417604567625	0.58795	0.98074	0.79377	D	AEFDGBI	0.931783	0.92115	D	0.627470110154281	0.74919	6.215093	0.633344419237174	0.77374	6.667354	0.999999359481349	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.11	5.11	0.69188	9.290000	0.95109	11.161000	0.87651	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	13.158	0.58949	695	0.58372	.;.;GPCR, family 2-like;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1825.98	35	chr7	30655662	.	A	G	1825.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.334e+00;DP=962;ExcessHet=0.0000;FS=1.081;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.70;ReadPosRankSum=-6.200e-02;SOR=0.604	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr7	30753866	30753866	G	A	exonic	INMT	.	stopgain	INMT:NM_001199219:exon2:c.G287A:p.W96X	.	.	414	1103	4	1	0	6	0.00271248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.026	N	1.000	A	.	.	.	.	.	.	.	.	.	3.113	16.40	3.69	2.043	7.297	13.316	.	.	.	.	2.472e-05	9.623e-05	0	0	0	2.998e-05	0	0	3.23e-05	5	154602	rs764793986	2.394e-05	2.394e-05	1.361e-05	3.438e-05	0.0002	1.738e-05	1.539e-05	1.998e-05	1.74e-05	0	2.236e-05	0	0	0	0.0002	2.788e-05	3.311e-05	0	3.283e-05	3.281e-05	3.854e-05	2.685e-05	6.535e-05	1.26e-05	7.97e-06	4.88e-06	1.83e-06	2.406e-05	0	6.535e-05	0	0	0	0.0034	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.026207	0.25958	N	0.264539	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.685	0.69213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.481121	0.93742	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	9.364779	0.98828	41	0.99613182821204127	0.74932	0.96158	0.67799	D	AEFBI	0.379737	0.46264	N	0.698948791166025	0.79563	7.104218	0.492420027529447	0.67486	5.09057	0.999999999756771	0.74766	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	3.69	3.69	0.41483	7.724000	0.83759	8.181000	0.76777	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.675000	0.33396	0.0:0.0:1.0:0.0	13.316	0.59847	922	0.19044	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1779.98	37	chr7	30753866	.	G	A	1779.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.530e-01;DP=864;ExcessHet=0.0000;FS=3.545;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.06;ReadPosRankSum=1.27;SOR=0.462	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1136	20	0	1	0
chr7	30853455	30853455	A	T	exonic	MINDY4	.	nonsynonymous SNV	MINDY4:NM_032222:exon12:c.A1673T:p.H558L,	.	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.024	B	0.021	B	0.355	N	0.785	N	1.265	L	1.62	T	-1.037	T	0.051	T	0.377	0.899	8.654	-2.22	-0.825	0.810	6.278	0.058	0.00459073892706	8e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376238682	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.363	0.11807	T	0.136	0.34009	T	0.024	0.19075	B	0.021	0.19346	B	0.355355	0.13752	N	0.737805	0.784914	0.34313	D	.	.	.	1.62	0.28189	T	-4.12	0.75058	D	0.546	0.57263	-1.0367	0.18326	T	0.051	0.21611	T	10	0.16267309	0.30481	T	0.004591	0.11346	T	0.058	0.16647	.	.	0.0762999501168	0.06990	0.47952683717098554	0.47872	0.0530379128989	0.05844	0.252950429916	0.04084	T	0.022887	0.17567	T	-0.164235	0.26111	T	-0.473689	0.25119	T	0.116814106702805	0.14115	T	0.59504	0.22051	T	0.1546458	0.34992	0.15903544	0.37110	0.1546458	0.34991	0.15903544	0.37109	-8.296	0.63068	D	.	.	0.093	0.13923	B	.	.	1.794468	0.22813	15.77	0.79533482111722276	0.12785	0.18950	0.20468	N	AEFDGBI	0.071871	0.14323	N	-1.31044674145868	0.03555	0.1589966	-1.3141077869477	0.04247	0.1999188	0.999827704104084	0.43622	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.695668	0.68540	0	.	.	4.78	-2.22	0.06560	0.989000	0.29229	0.366000	0.17626	-0.583000	0.04693	0.956000	0.33378	0.000000	0.08366	0.915000	0.45038	0.5464:0.1293:0.3243:0.0	6.278	0.20202	869	0.31655	Domain of unknown function DUF4205|Domain of unknown function DUF4205	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1562.98	33	chr7	30853455	.	A	T	1562.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.01;DP=825;ExcessHet=0.0000;FS=1.412;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.31;ReadPosRankSum=-3.120e-01;SOR=0.871	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1418	20	0	1	0
chr7	30912228	30912228	G	A	exonic	AQP1	.	nonsynonymous SNV	AQP1:NM_001329872:exon1:c.G319A:p.V107I	.	.	417	1088	15	2	0	19	0.00865604	.	.	1589491	AQP1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.55	T	0.997	D	0.96	D	0.000	D	1.000	D	1.14	L	-2.05	D	-0.047	T	0.599	D	0.391	2.811	15.36	4.46	2.490	4.775	15.013	0.378	.	0.0010	0.00439297	0.0037	0.0002	0.0010	0.0001	0	0.0014	0.0034	0.0208	0.0032794	507	154602	rs35804488	0.0023	0.0023	0.0018	0.0029	0.0197	0.0023	0.0022	0.0189	0.0186	5.974e-05	0.0008	0.0036	0	6.15e-05	0.0061	0.0012	0.0030	0.0197	0.0014	0.0015	0.0012	0.0017	0.0168	0.0013	0.0012	0.0138	0.0128	0.0003	0	0.0008	0.0029	0.0002	9.422e-05	0.0068	0.0014	0.0019	0.0168	0.402	0.10412	T	0.511	0.10785	T	0.997	0.70673	D	0.96	0.70309	D	0.000008	0.62929	D	0.063541	0.989557	0.40976	D	0.92	0.23413	L	-2.05	0.85799	D	-0.65	0.18877	N	0.36	0.40164	-0.0472	0.81266	T	0.599	0.85722	D	10	0.009975493	0.00224	T	.	.	.	0.378	0.69612	.	.	0.786091790664	0.78411	0.6611793960095894	0.66054	1.07886715441	0.77077	.	.	.	0.458022	0.79616	T	-0.295333	0.09107	T	-0.180746	0.56453	T	0.0229172142271213	0.01013	T	0.926707	0.72990	D	0.31050563	0.53830	0.20391516	0.44490	0.31050563	0.53830	0.20391516	0.44489	-6.6	0.51053	T	0.13513500408540666	0.14661	0.119	0.24396	B	.	.	3.409413	0.47284	22.4	0.99823375948302329	0.90590	0.86205	0.45441	D	AEFGBCI	0.867877	0.78780	D	0.289237498746932	0.55602	3.724261	0.33964767613929	0.57886	3.956246	0.999999963690114	0.74766	0.582742	0.33608	0	0.59043	0.45803	0	0.602189	0.34648	0	0.620976	0.48614	0	.	.	4.46	4.46	0.53567	4.791000	0.62154	9.963000	0.82809	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:0.0:1.0:0.0	15.013	0.71224	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1431.98	33	chr7	30912228	.	G	A	1431.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.933;DP=803;ExcessHet=0.0000;FS=0.753;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=0.107;SOR=0.567	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1174	20	0	1	0
chr7	30971980	30971980	G	A	exonic	GHRHR	.	nonsynonymous SNV	GHRHR:NM_000823:exon6:c.G482A:p.R161Q,	Growth hormone deficiency, isolated, type IB	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	1.000	D	3.525	H	1.22	T	-0.173	T	0.316	T	0.929	4.765	26.7	4.66	2.399	8.764	15.093	0.598	0.14232649169	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1423511225	1.231e-05	1.231e-05	1.225e-05	1.238e-05	1.079e-05	7.7e-06	6.35e-06	5.75e-06	4.55e-06	0	0	0	0	7.493e-05	0	1.079e-05	3.312e-05	0	6.578e-06	6.568e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999978	0.81001	D	3.63	0.94006	H	1.22	0.37052	T	-3.89	0.73151	D	0.945	0.95256	-0.1733	0.78347	T	0.316	0.68602	T	9	0.98841184	0.99257	D	0.142326	0.82470	D	0.598	0.84074	0.967	0.99679	0.567895071198	0.56453	0.8721766384150222	0.87183	0.519879735987	0.49802	0.502553582191	0.39183	T	0.581754	0.86315	D	0.310365	0.83774	D	0.208042	0.83563	D	0.998424291610718	0.94111	D	0.969503	0.97531	D	0.89280576	0.90749	0.8049431	0.88580	0.89280576	0.90750	0.8049431	0.88581	-11.308	0.81320	D	0.7420922183359305	0.82418	0.433	0.61342	A	.;.	.;.	5.601100	0.92456	32	0.99939332263391323	0.99734	0.98719	0.85981	D	AEFDGBI	0.892877	0.83026	D	0.919001468993172	0.92659	11.55222	0.811484327488168	0.90581	10.473	0.999999995018801	0.74766	0.525926	0.21836	0	0.547309	0.14657	0	0.615948	0.41167	0	0.530356	0.10902	0	.	.	4.66	4.66	0.57857	9.568000	0.97316	11.588000	0.93387	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.209000	0.22154	0.0:0.0:1.0:0.0	15.093	0.71881	926	0.17793	GPCR, family 2-like;GPCR, family 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2355.98	38	chr7	30971980	.	G	A	2355.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.54;DP=886;ExcessHet=0.0000;FS=0.617;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.71;ReadPosRankSum=-5.000e-02;SOR=0.630	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr7	30971988	30971988	G	A	exonic	GHRHR	.	nonsynonymous SNV	GHRHR:NM_000823:exon6:c.G490A:p.V164I,	Growth hormone deficiency, isolated, type IB	.	2	1519	1	0	0	1	0.000329056	.	.	897995	Isolated_growth_hormone_deficiency_type_IB|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0013006,MedGen:C2748571,OMIM:612781,Orphanet:231671,Orphanet:631|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.007	B	0.015	B	.	.	1.000	D	-1.995	N	1.65	T	-0.978	T	0.014	T	0.199	-0.383	2.203	2.28	0.297	4.480	7.077	0.046	0.00426443491568	0.0005	0.000399361	0.0003	0	0	0	0	0.0004	0	0.0005	0.0002717	42	154602	rs138615339	0.0004	0.0004	0.0004	0.0004	0.0008	0.0004	0.0004	0.0006	0.0006	8.962e-05	0.0001	3.826e-05	0	1.873e-05	0	0.0005	0.0004	0.0008	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	0	0	0.0001	0	0	0	0	0.0005	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.005	0.12996	B	0.007	0.17295	B	.	.	.	.	1	0.81001	D	-2.12	0.00150	N	1.65	0.27650	T	0.81	0.01839	N	0.123	0.11483	-0.9776	0.35548	T	0.014	0.05608	T	9	0.04535091	0.03595	T	0.004264	0.10310	T	0.046	0.12618	.	.	0.115124310173	0.11017	0.22613659439508432	0.22528	0.0736054867805	0.08253	0.326495110989	0.14404	T	0.098787	0.40294	T	-0.490753	0.00643	T	-0.578547	0.14675	T	0.00803554803133011	0.00095	T	0.815518	0.47040	T	0.15928613	0.35789	0.084828496	0.19544	0.15928613	0.35789	0.084828496	0.19544	-0.033	0.00361	T	0.034497562002567275	0.00169	0.053	0.00254	B	.;.	.;.	0.477269	0.08466	5.227	0.27028522593130555	0.01322	0.10068	0.15675	N	AEFDGBI	0.035049	0.04446	N	-1.00353850508699	0.08529	0.4002937	-0.729661009849716	0.16224	0.8572338	0.971763106486832	0.29314	0.525926	0.21836	0	0.547309	0.14657	0	0.615948	0.41167	0	0.530356	0.10902	0	.	.	4.66	2.28	0.27583	5.012000	0.63775	4.000000	0.41065	-0.688000	0.04154	1.000000	0.71638	0.999000	0.35428	0.057000	0.15750	0.8012:0.0:0.1988:0.0	7.077	0.24388	926	0.17793	GPCR, family 2-like;GPCR, family 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2175.98	38	chr7	30971988	.	G	A	2175.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.71;DP=929;ExcessHet=0.0000;FS=7.388;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=0.960;SOR=0.399	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr7	31338589	31338589	T	A	exonic	NEUROD6	.	nonsynonymous SNV	NEUROD6:NM_022728:exon2:c.A680T:p.N227I,	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.97	D	0.637	P	0.000	D	0.999	D	1.245	L	-0.07	T	-0.747	T	0.238	T	0.495	2.644	14.80	5.32	2.008	3.746	15.287	0.085	0.0232416539031	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1408050579	8.209e-06	8.209e-06	5.445e-06	1.1e-05	1.079e-05	4.38e-06	3.46e-06	5.75e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.045	0.49390	D	0.97	0.56973	D	0.637	0.51992	P	0.000025	0.55875	D	0.185932	0.999324	0.46670	D	1.39	0.34934	L	-0.07	0.63738	T	-1.87	0.43717	N	0.552	0.57775	-0.7467	0.58107	T	0.238	0.60535	T	10	0.40667796	0.55941	T	0.023242	0.46189	T	0.085	0.24743	0.224	0.14813	0.336933722576	0.33308	0.4450242264169589	0.44420	1.80813242872	0.91769	0.660258293152	0.61446	T	0.110493	0.42523	T	-0.0103677	0.50215	T	-0.237183	0.51074	T	0.931255519390106	0.59650	D	0.867413	0.56831	D	0.36024645	0.57854	0.49528614	0.70811	0.36024645	0.57854	0.49528614	0.70811	-2.869	0.08837	T	.	.	0.128	0.27222	B	.	.	4.079016	0.60664	24.2	0.9885676210650387	0.47390	0.91708	0.54095	D	AEDBIJ	0.638115	0.61665	D	0.379826576135101	0.60329	4.220722	0.427359095948114	0.63275	4.558104	0.48778042313255	0.20837	0.446893	0.09132	0	0.563428	0.19063	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	5.32	5.32	0.75377	3.754000	0.54903	5.138000	0.47694	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.287	0.73540	889	0.27310	Neurogenic differentiation factor, domain of unknown function	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2264.98	33	chr7	31338589	.	T	A	2264.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.069;DP=846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.71;ReadPosRankSum=0.804;SOR=0.687	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1058	20	0	1	0
chr7	31578089	31578089	G	C	exonic	ITPRID1	.	nonsynonymous SNV	ITPRID1:NM_194300:exon7:c.G825C:p.E275D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.925	P	0.691	P	.	.	0.998	N	1.59	L	2.34	T	-1.073	T	0.066	T	0.089	2.931	15.77	2.34	0.207	0.512	6.530	0.040	0.0101198041539	.	.	8.316e-06	0	0	0	0	1.507e-05	0	0	6.5e-06	1	154602	rs747609326	6.159e-06	6.157e-06	6.808e-06	5.502e-06	6.713e-05	2.9e-06	2.1e-06	1.78e-05	8.93e-06	0	6.713e-05	0	0	0	0	3.598e-06	3.314e-05	0	3.944e-05	3.94e-05	2.569e-05	5.383e-05	0.0003	1.716e-05	1.13e-05	0.0001	8.291e-05	0	0	0.0003	0	0	0	0	1.47e-05	0	0	0.072	0.35726	T	0.049	0.49663	D	0.925	0.51395	P	0.691	0.53831	P	.	.	.	.	1	0.22446	N	.	.	.	2.34	0.20255	T	-1.14	0.29323	N	0.092	0.11483	-1.0728	0.08808	T	0.066	0.27087	T	8	0.08823919	0.15174	T	0.01012	0.26280	T	0.040	0.10527	0.176	0.08257	0.173771789658	0.16945	0.0712978095544704	0.07066	0.111376564188	0.12561	0.241398349404	0.02917	T	0.014874	0.12581	T	-0.434943	0.01385	T	-0.686695	0.06582	T	0.216198787093163	0.21273	T	0.513749	0.16498	T	0.049349904	0.08750	0.061720762	0.11965	0.049349904	0.08749	0.061720762	0.11964	-3.62	0.18147	T	.	.	0.116	0.25946	B	.;.;.;.	.;.;.;.	1.384432	0.17965	13.47	0.99399062860379916	0.62702	0.30036	0.23978	N	AEFBI	0.148313	0.27217	N	-0.323988287876862	0.28239	1.555966	-0.492701328688242	0.22353	1.213747	4.20519087382695E-5	0.03989	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.49	2.34	0.28071	0.369000	0.20149	1.212000	0.24914	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.030000	0.13115	0.3898:0.0:0.6102:0.0	6.530	0.21520	845	0.36510	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2134.98	34	chr7	31578089	.	G	C	2134.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.800e-02;DP=898;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=-5.130e-01;SOR=0.660	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1374	20	0	1	0
chr7	31652795	31652795	C	G	exonic	ITPRID1	.	nonsynonymous SNV	ITPRID1:NM_194300:exon13:c.C3101G:p.P1034R	.	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.815	P	0.314	B	0.844	N	1.000	N	1.95	M	2.53	T	-1.030	T	0.029	T	0.117	1.211	9.917	-0.303	-0.187	-0.005	3.633	0.031	0.00615268077865	0.0032	0.00119808	0.0034	0.0005	0.0010	0	0.0009	0.0051	0.0011	0.0032	0.0033829	523	154602	rs34177136	0.0043	0.0043	0.0042	0.0044	0.0049	0.0042	0.0042	0.0048	0.0048	0.0005	0.0013	0.0040	0	0.0010	0.0031	0.0049	0.0038	0.0036	0.0031	0.0031	0.0033	0.0029	0.0055	0.0029	0.0028	0.0050	0.0048	0.0010	0	0.0011	0.0072	0	0.0007	0.0034	0.0055	0.0033	0.0010	0.006	0.61437	D	0.0	0.92824	D	0.815	0.45525	P	0.314	0.41528	B	0.843657	0.07014	N	1.098150	1	0.08975	N	.	.	.	2.26	0.17596	T	-1.48	0.36189	N	0.124	0.19459	-1.0302	0.20390	T	0.029	0.12365	T	10	0.0040017962	0.00077	T	0.006153	0.16111	T	0.031	0.07369	.	.	0.0986583533028	0.09354	.	.	.	.	0.252019762993	0.03984	T	0.004624	0.04028	T	-0.638039	0.00086	T	-0.686386	0.06600	T	0.0065397225368435	0.00073	T	0.679032	0.28770	T	0.045630172	0.07501	0.04477363	0.05876	0.045630172	0.07501	0.04477363	0.05875	-3.754	0.22062	T	.	.	0.113	0.22354	B	.;.;.;.	.;.;.;.	1.911327	0.24272	16.34	0.92222356321370735	0.21597	0.03313	0.08377	N	AEFI	0.059684	0.11290	N	-0.835650302720572	0.12406	0.6045303	-1.01817122154694	0.09386	0.4666579	0.780041901574174	0.23825	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	3.96	-0.303	0.12158	0.035000	0.13685	0.077000	0.14340	-0.780000	0.03343	0.000000	0.06391	0.000000	0.08366	0.172000	0.21044	0.1791:0.504:0.0:0.3169	3.633	0.07680	850	0.35610	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	931.98	36	chr7	31652795	.	C	G	931.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.470e+00;DP=779;ExcessHet=0.0000;FS=3.437;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=-1.830e-01;SOR=0.350	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1260	20	0	1	0
chr7	32544722	32544722	A	C	exonic	AVL9	.	nonsynonymous SNV	AVL9:NM_015060:exon3:c.A243C:p.R81S,	.	.	439	1082	1	0	0	1	0.000461894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.89	T	0.993	D	0.881	P	0.000	D	0.997	D	0.875	L	1.02	T	-1.012	T	0.136	T	0.582	4.205	21.8	5.94	2.269	1.444	16.391	0.214	0.00848236662228	0.0013	0.000599042	0.0013	0	0.0005	0	0.0003	0.0019	0	0.0011	0.0011707	181	154602	rs142055726	0.0012	0.0012	0.0011	0.0013	0.0015	0.0012	0.0011	0.0013	0.0012	0.0002	0.0013	0.0020	0	0.0005	0.0012	0.0013	0.0012	0.0015	0.0011	0.0011	0.0011	0.0012	0.0020	0.0010	0.0010	0.0016	0.0015	2.405e-05	0	0.0020	0.0020	0	0.0005	0	0.0018	0.0014	0.0008	0.105	0.45039	T	0.129	0.36765	T	0.946	0.53363	P	0.741	0.55725	P	0.000004	0.62929	D	0.106321	0.996803	0.43428	D	1.74	0.45129	L	1.02	0.40749	T	-1.02	0.28290	N	0.622	0.65501	-1.0120	0.26291	T	0.136	0.45184	T	10	0.015405804	0.00323	T	0.008482	0.22432	T	0.214	0.50650	0.381	0.39807	0.578650849052	0.57535	0.42259498453967276	0.42176	0.213714179683	0.23889	0.533314406872	0.43502	T	0.009512	0.08653	T	-0.367836	0.03704	T	-0.307624	0.43915	T	0.0482502437205915	0.05189	T	0.916408	0.74459	D	0.21827748	0.44331	0.22655763	0.47637	0.21827748	0.44331	0.22655763	0.47636	-5.002	0.36861	T	.	.	0.384	0.73144	A	.;.;.;.	.;.;.;.	3.833463	0.55424	23.6	0.9974663987757717	0.83927	0.88233	0.48069	D	AEFBI	0.336994	0.43493	N	0.236596109963772	0.52980	3.469053	0.320687280970341	0.56756	3.839531	0.991145409117188	0.32388	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.94	5.94	0.96165	1.535000	0.35667	11.126000	0.86672	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.391	0.83373	705	0.57330	AVL9/DENND6 domain|Tripartite DENN domain;AVL9/DENND6 domain|Tripartite DENN domain;AVL9/DENND6 domain|Tripartite DENN domain;AVL9/DENND6 domain|Tripartite DENN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1854.98	34	chr7	32544722	.	A	C	1854.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.39;DP=817;ExcessHet=0.0000;FS=6.316;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.54;ReadPosRankSum=0.069;SOR=1.015	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1244	20	0	1	0
chr7	33357864	33357864	G	A	exonic	BBS9	.	nonsynonymous SNV	BBS9:NM_001348044:exon12:c.G1091A:p.R364Q	Bardet-Biedl syndrome 9, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	252810	not_specified|Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_9|Bardet-Biedl_syndrome_1	MedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MONDO:MONDO:0014437,MedGen:C1859567,OMIM:615986,Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.14	T	0.871	P	0.586	P	0.000	D	1.000	D	1.95	M	2.14	T	-1.196	T	0.029	T	0.372	4.435	23.6	5.94	2.823	3.641	11.656	0.080	.	0.0117	0.00858626	0.0029	0.0314	0.0010	0	0	0.0002	0.0055	0.0001	0.0027167	420	154602	rs34218557	0.0010	0.0010	0.0011	0.0008	0.0329	0.0009	0.0009	0.0312	0.0306	0.0329	0.0016	0	0	1.875e-05	0.0003	0.0001	0.0018	0.0001	0.0086	0.0086	0.0091	0.0081	0.0300	0.0082	0.0080	0.0286	0.0281	0.0300	0	0.0022	0	0	0	0.0034	8.861e-05	0.0090	0	0.005	0.63226	D	0.015	0.61642	D	0.792	0.47859	P	0.328	0.50343	B	0.000159	0.49130	D	0.128329	0.987233	0.41742	D	2.045	0.56016	M	2.14	0.19450	T	-3.12	0.63782	D	0.518	0.57348	-1.1964	0.00179	T	0.029	0.12497	T	10	0.0072534382	0.00165	T	.	.	.	0.080	0.23350	.	.	0.501247319706	0.49760	0.5480046693721975	0.54726	0.177799176381	0.20007	0.451767086983	0.32185	T	0.193484	0.54896	T	-0.45226	0.01095	T	-0.399419	0.33453	T	0.0337267402016628	0.02591	T	0.929107	0.80823	D	0.41228387	0.61574	0.3001707	0.56051	0.48059824	0.65937	0.40339193	0.64796	-8.435	0.65116	D	0.484081918983691	0.56218	0.146	0.32251	B	.;.;.;.	.;.;.;.	3.831913	0.55391	23.6	0.99952337751656739	0.99951	0.81063	0.40548	D	AEFCI	0.381657	0.46383	N	0.523899008611477	0.68508	5.22669	0.583864498926327	0.73784	6.027329	0.956875047626851	0.28271	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.94	5.94	0.96165	3.534000	0.53324	6.653000	0.56222	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.1104:0.0:0.8896:0.0	11.656	0.50578	744	0.52588	PTHB1, C-terminal domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1459.98	35	chr7	33357864	.	G	A	1459.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.570e-01;DP=815;ExcessHet=0.0000;FS=4.826;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=0.435;SOR=0.357	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1077	20	0	1	0
chr7	36410543	36410543	C	T	exonic	ANLN	.	nonsynonymous SNV	ANLN:NM_001284301:exon6:c.C1126T:p.R376C	Focal segmental glomerulosclerosis 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1374769	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.255	M	2.21	T	-0.939	T	0.133	T	0.499	4.239	22.1	3.85	0.759	4.584	12.301	0.172	0.0992694394746	.	0.000199681	7.491e-05	0	0	0	0	1.513e-05	0	0.0005	6.47e-05	10	154602	rs559978701	3.977e-05	3.967e-05	2.32e-05	5.651e-05	0.0005	3.12e-05	2.853e-05	0.0004	0.0003	3e-05	2.28e-05	0	2.523e-05	0	0	9.905e-06	3.32e-05	0.0005	3.285e-05	3.281e-05	0	6.715e-05	0.0006	1.261e-05	7.98e-06	0.0002	9e-05	0	0	6.547e-05	0	0	0	0	1.47e-05	0	0.0006	0.001	0.91255	D	0.014	0.63109	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.095114	1	0.81001	D	2.545	0.74286	M	2.21	0.19990	T	-4.0	0.75139	D	0.516	0.54671	-0.9388	0.42806	T	0.133	0.44642	T	10	0.14448911	0.27420	T	0.099269	0.77079	D	0.172	0.43662	0.266	0.21261	0.637469505071	0.63448	0.5334594273513621	0.53270	0.687227062568	0.60371	0.556408643723	0.46760	T	0.376331	0.73975	T	-0.292236	0.09413	T	-0.305835	0.44104	T	0.816710293292999	0.47529	D	0.979602	0.93000	D	0.4647072	0.64964	0.35285512	0.60856	0.48249957	0.66052	0.34610927	0.60283	-13.121	0.90792	D	0.3195570575660832	0.41767	0.431	0.65920	A	.;.	.;.	5.108625	0.85399	28.6	0.99911053915977965	0.98022	0.97002	0.72125	D	AEFBI	0.537524	0.55529	D	0.429595695221995	0.63057	4.532237	0.384719815681844	0.60621	4.25188	0.999982547349855	0.51787	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.63	3.85	0.43556	4.658000	0.61192	5.861000	0.50433	-0.230000	0.07744	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.8629:0.0:0.1371	12.301	0.54197	657	0.62240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1245.98	33	chr7	36410543	.	C	T	1245.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.730e-01;DP=788;ExcessHet=0.0000;FS=1.757;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=-1.830e-01;SOR=0.507	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1264	20	0	1	0
chr7	36420622	36420622	T	G	exonic	ANLN	.	nonsynonymous SNV	ANLN:NM_001284301:exon11:c.T1930G:p.F644V	Focal segmental glomerulosclerosis 8, Autosomal dominant	.	438	1079	4	1	0	6	0.00277264	.	.	2092851	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.78	T	0.002	B	0.002	B	0.010	N	0.990	D	1.245	L	2.9	T	-0.961	T	0.015	T	0.24	0.833	8.362	-1.16	-0.137	0.192	3.186	0.058	0.00447428479639	7.7e-05	.	0.0002	0	0.0002	0	0	4.502e-05	0	0.0011	0.0001488	23	154602	rs370654620	7.254e-05	7.319e-05	4.222e-05	0.0001	0.0011	6.116e-05	5.702e-05	0.0009	0.0008	0	2.236e-05	0	0	0	0.0003	5.398e-06	4.969e-05	0.0011	3.286e-05	3.284e-05	1.285e-05	5.382e-05	0.0010	1.261e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.641	0.05357	T	0.588	0.08565	T	0.0	0.02946	B	0.0	0.04355	B	0.009537	0.30318	N	0.416481	0.990332	0.41137	D	0.84	0.21119	L	2.89	0.10196	T	-1.45	0.35792	N	0.171	0.22486	-0.9610	0.38993	T	0.015	0.05946	T	10	0.02364695	0.00625	T	0.004474	0.10969	T	0.058	0.16647	.	.	0.259504319725	0.25562	0.21438031735789595	0.21354	0.168993551176	0.19054	0.317308038473	0.13012	T	0.064807	0.32529	T	-0.312104	0.07564	T	-0.603227	0.12541	T	0.0649137571454048	0.07918	T	0.744526	0.36463	T	0.042576034	0.06484	0.043611217	0.05463	0.044395197	0.07090	0.04272601	0.05155	-7.103	0.54782	T	0.13519274680703292	0.14672	0.075	0.07130	B	.;.	.;.	1.684135	0.21463	15.21	0.7685038324995852	0.11634	0.65610	0.32795	D	AEFGBHCI	0.091531	0.18538	N	-0.762548630913572	0.14295	0.7108938	-0.623732895263994	0.18884	1.010783	0.905598195567892	0.26208	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.84	-1.16	0.09181	0.187000	0.16806	0.320000	0.17174	-0.157000	0.11712	0.987000	0.36337	0.984000	0.30665	0.993000	0.69303	0.2222:0.0621:0.3369:0.3789	3.186	0.06208	658	0.62094	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1444.98	33	chr7	36420622	.	T	G	1444.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.690e-01;DP=846;ExcessHet=0.0000;FS=3.117;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=0.499;SOR=0.910	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1311	20	0	1	0
chr7	36513336	36513336	C	T	exonic	AOAH	.	nonsynonymous SNV	AOAH:NM_001177506:exon22:c.G1763A:p.S588N,	.	.	424	1093	5	0	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.002	B	0.003	B	.	.	1.000	N	.	.	-1.25	T	-0.753	T	0.276	T	0.24	2.001	12.65	2.83	1.173	0.066	5.858	0.231	.	7.7e-05	0.00499201	0.0032	0	0.0003	0.0001	0	5.998e-05	0.0132	0.0225	0.0027167	420	154602	rs148942391	0.0015	0.0015	0.0008	0.0022	0.0229	0.0014	0.0014	0.0221	0.0218	2.987e-05	0	3.826e-05	5.038e-05	1.872e-05	0.0003	0.0001	0.0012	0.0229	0.0007	0.0007	0.0004	0.0010	0.0214	0.0006	0.0005	0.0180	0.0168	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.18612	N	.	.	.	.	.	.	.	.	.	0.267	0.30233	-0.7527	0.57794	T	0.276	0.64824	T	8	0.0028563738	0.00046	T	.	.	.	.	.	.	.	0.365317461125	0.36143	0.2538663900635046	0.25300	.	.	0.341022610664	0.16591	T	0.006708	0.06137	T	-0.504894	0.00536	T	-0.480436	0.24400	T	0.0149350470208539	0.00318	T	0.40106	0.10202	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.33296	B	.	.	0.261322	0.06400	2.865	0.98972545973808623	0.49560	0.02194	0.06410	N	AEFI	0.051911	0.09217	N	-0.479833644712356	0.22743	1.216506	-0.432471696410468	0.24049	1.314869	0.303440115610077	0.19212	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.82	2.83	0.32150	0.078000	0.14615	0.581000	0.19707	0.599000	0.40250	0.010000	0.18352	0.465000	0.25022	0.611000	0.31665	0.0:0.637:0.2527:0.1103	5.858	0.17978	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1203.98	73	chr7	36513336	.	C	T	1203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.26;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.49;ReadPosRankSum=0.477;SOR=0.741	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1468	20	0	1	0
chr7	36674011	36674011	T	G	splicing	AOAH	NM_001177507:exon2:c.128-2A>C;NM_001637:exon3:c.224-2A>C;NM_001177506:exon3:c.224-2A>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.535	18.04	5.14	2.284	3.311	11.523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288954	0.82070	D	0.177286	0.81839	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.030403	0.83658	28.1	0.98990694224996933	0.49943	0.82477	0.41699	D	AEDBCI	.	.	.	0.998726036483732	0.95703	13.88108	0.836517513307693	0.92204	11.29384	0.999990445450825	0.74766	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.058706	0.01089	0	0.963775	0.67378	5.14	5.14	0.70008	3.281000	0.51389	7.609000	0.61840	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	11.523	0.49812	931	0.16308	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	987.98	33	chr7	36674011	.	T	G	987.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.302;DP=774;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=-9.870e-01;SOR=0.760	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr7	37342647	37342647	G	A	exonic	ELMO1	.	nonsynonymous SNV	ELMO1:NM_001206480:exon2:c.C44T:p.P15L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.899	P	0.282	B	0.000	D	1.000	D	2.175	M	2.45	T	-0.750	T	0.147	T	0.756	3.793	19.26	4.71	2.336	8.456	15.809	0.221	0.0340549185081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1384206207	4.792e-06	6.84e-06	6.812e-06	2.752e-06	1.799e-06	1.99e-06	1.28e-06	3e-07	1.1e-07	0	0	0	0	9.362e-05	0	1.799e-06	0	0	1.972e-05	1.97e-05	2.569e-05	1.346e-05	.	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0.0003	0	0	0	0	0.043	0.55530	D	0.079	0.92824	T	0.899	0.49514	P	0.282	0.40384	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.455	0.71248	M	2.45	0.49919	T	-1.84	0.65972	N	0.789	0.78737	-0.7504	0.57914	T	0.147	0.47147	T	10	0.52119154	0.62652	D	0.034055	0.55415	D	0.221	0.51721	0.517	0.61763	0.45353014845	0.44977	0.8418022119751649	0.84140	1.85689283172	0.92355	0.879708349705	0.93921	D	0.224497	0.58895	T	0.119422	0.66314	D	-0.0662353	0.65894	T	0.687747406284729	0.40144	D	0.957804	0.85587	D	0.23291679	0.46088	0.122334614	0.29510	0.23291679	0.46088	0.122334614	0.29509	-10.928	0.79262	D	.	.	0.638	0.71982	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.270253	0.88488	29.6	0.99744932134236253	0.83778	0.97263	0.73660	D	AEFGBHCIJ	0.839819	0.75719	D	0.550143964892645	0.70091	5.45083	0.578820135665095	0.73423	5.96812	1.0	0.98316	0.706298	0.61202	0	0.52208	0.09955	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.71	4.71	0.59010	8.349000	0.89970	11.570000	0.93280	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	15.809	0.78318	900	0.24599	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1408.98	38	chr7	37342647	.	G	A	1408.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.55;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.36;ReadPosRankSum=0.346;SOR=0.640	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1343	20	0	1	0
chr7	38384865	38384865	T	A	exonic	AMPH	.	nonsynonymous SNV	AMPH:NM_139316:exon20:c.A1915T:p.T639S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.21	B	0.212	B	0.002	N	1.000	N	-0.585	N	0.96	T	-1.035	T	0.039	T	0.357	0.549	6.968	-0.8	-0.070	0.773	4.340	0.041	0.00671816000782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.589	0.06606	T	0.516	0.12957	T	0.0	0.11197	B	0.003	0.12992	B	0.001557	0.38671	N	0.287773	0.999987	0.18198	N	-0.895	0.01383	N	0.96	0.42888	T	0.05	0.06369	N	0.127	0.12055	-1.0353	0.18762	T	0.039	0.16720	T	10	0.085782886	0.14516	T	0.006718	0.17756	T	0.054	0.15330	0.56	0.67958	0.582891127894	0.57961	0.2392565756620707	0.23839	0.171722290454	0.19340	0.407781898975	0.26150	T	0.05999	0.31265	T	-0.179623	0.23791	T	-0.495792	0.22784	T	0.0788334831595421	0.09837	T	0.69753	0.30746	T	0.07553879	0.17026	0.03478683	0.02607	0.07553879	0.17025	0.03478683	0.02607	-5.778	0.44382	T	.	.	0.127	0.27100	B	.;.	.;.	1.245500	0.16417	12.53	0.76954453870059991	0.11677	0.25907	0.22838	N	AEFBI	0.140091	0.26190	N	-0.906253471740123	0.10695	0.512328	-0.763415409157996	0.15393	0.809356	0.7896567433361	0.23992	0.75658	0.98901	0	0.547309	0.14657	0	0.709663	0.75317	0	0.656636	0.63459	0	.	.	5.56	-0.8	0.10347	0.768000	0.26252	-0.692000	0.07835	-0.169000	0.11342	0.627000	0.27974	0.010000	0.20010	0.968000	0.53726	0.2386:0.3191:0.0:0.4424	4.340	0.10544	867	0.32089	.;SH3 domain|SH3 domain|Amphiphysin I, SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	961.98	40	chr7	38384865	.	T	A	961.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.29;DP=812;ExcessHet=0.0000;FS=3.661;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.83;ReadPosRankSum=-9.260e-01;SOR=0.872	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1361	20	0	1	0
chr7	38461396	38461396	G	A	exonic	AMPH	.	nonsynonymous SNV	AMPH:NM_001635:exon11:c.C904T:p.P302S	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	1.0	D	0.999	D	0.000	D	1.000	D	2.175	M	0.98	T	-0.367	T	0.404	T	0.56	4.607	25.1	5.77	2.740	5.948	19.992	0.208	0.0269658099038	.	.	4.942e-05	0	0	0	0	2.997e-05	0	0.0002	3.88e-05	6	154602	rs753314715	1.095e-05	1.094e-05	5.445e-06	1.65e-05	0.0002	6.48e-06	5.24e-06	5.396e-05	4.042e-05	0	0	0	0	0	0.0002	5.396e-06	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.043	0.55759	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.58	0.75369	M	0.98	0.42122	T	-5.23	0.85323	D	0.553	0.57860	-0.3668	0.73059	T	0.404	0.75459	T	10	0.44746807	0.58488	T	0.026966	0.49829	D	0.299	0.61955	0.186	0.09517	0.841035416357	0.83951	0.46013028004527806	0.45931	0.752084844785	0.63826	0.699686765671	0.67098	T	0.509964	0.82656	D	-0.179426	0.23822	T	-0.235831	0.51204	T	0.803359985351562	0.46583	D	0.962404	0.85901	D	0.58104515	0.71665	0.75442284	0.85486	0.58104515	0.71667	0.75442284	0.85487	-12.955	0.89177	D	.	.	0.484	0.68702	A	.;.	.;.	4.654808	0.74232	26.1	0.99936754450147314	0.99621	0.97750	0.76862	D	AEFBI	0.799204	0.72553	D	0.49819218861363	0.66983	5.021515	0.572245310083591	0.72955	5.892463	0.999880314957856	0.44867	0.706298	0.61202	0	0.547309	0.14657	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.77	5.77	0.91077	7.707000	0.83595	11.744000	0.95258	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	19.992	0.97370	776	0.48302	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	519.98	33	chr7	38461396	.	G	A	519.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.12;ReadPosRankSum=0.258;SOR=0.830	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1204	20	0	1	0
chr7	39339990	39339990	C	T	exonic	POU6F2	.	nonsynonymous SNV	POU6F2:NM_001370959:exon5:c.C947T:p.P316L	.	.	13	1488	21	0	0	21	0.00700701	.	.	750624	POU6F2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.17	T	1.0	D	0.998	D	0.000	N	1.000	D	1.735	L	0.91	T	-0.058	T	0.789	D	0.57	3.383	17.41	4.24	1.888	4.454	16.622	0.360	0.186887782839	0.0004	0.00119808	0.0009	0	0.0005	0	0	0.0004	0	0.0050	0.0007956	123	154602	rs140579551	0.0005	0.0005	0.0004	0.0007	0.0049	0.0005	0.0005	0.0045	0.0043	2.99e-05	0.0003	0.0048	2.521e-05	0	0.0042	0.0001	0.0007	0.0049	0.0004	0.0004	0.0003	0.0005	0.0048	0.0003	0.0003	0.0033	0.0028	0	0	0.0004	0.0037	0.0002	0	0	0.0002	0.0005	0.0048	0.002	0.91255	D	0.018	0.66756	D	1.0	0.90584	D	0.995	0.88582	D	0.000000	0.00162	N	38.749600	0.999991	0.58761	D	0.895	0.22405	L	0.91	0.87910	T	-2.36	0.68178	N	0.572	0.68603	-0.0577	0.81042	T	0.789	0.92843	D	10	0.0104005635	0.00232	T	0.186888	0.85904	D	0.360	0.68052	.	.	0.944785693014	0.94420	0.4494868403030696	0.44866	0.12945880337	0.14595	0.710781097412	0.68706	T	0.381144	0.74352	T	-0.198564	0.21012	T	-0.056634	0.66565	D	0.0583975139153932	0.06913	T	0.934007	0.75281	D	0.27540636	0.50604	0.3132593	0.57324	0.2842961	0.51457	0.3352743	0.59343	-4.889	0.35611	T	0.1709959771602053	0.21531	0.102	0.32969	B	.;.;.;.;.	.;.;.;.;.	4.519271	0.70844	25.6	0.99677032777020813	0.78977	0.96149	0.67757	D	AEFDBI	0.698710	0.65630	D	0.538923182564204	0.69409	5.352951	0.496279600837992	0.67743	5.125052	0.985010285847895	0.30813	0.559995	0.30671	0	0.573888	0.26702	0	0.527494	0.11647	0	0.564101	0.26826	0	.	.	4.24	4.24	0.49486	4.676000	0.61317	4.718000	0.44490	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	16.622	0.84784	871	0.31377	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	396.98	35	chr7	39339990	.	C	T	396.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=725;ExcessHet=0.0000;FS=5.579;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.03;ReadPosRankSum=-1.355e+00;SOR=1.927	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr7	40092907	40092907	T	G	exonic	CDK13	.	nonsynonymous SNV	CDK13:NM_003718:exon13:c.T3358G:p.S1120A,	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, Autosomal dominant	.	430	1082	10	0	0	10	0.00459982	.	.	2122406	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.012	B	0.013	B	.	.	1.000	D	0	N	1.51	T	-1.029	T	0.027	T	0.082	2.537	14.44	1.67	1.001	1.960	0.149	0.059	0.00649887984839	.	0.000199681	0.0002	0	0	0	0	1.498e-05	0	0.0013	0.0001488	23	154602	rs561731992	8.824e-05	8.824e-05	4.492e-05	0.0001	0.0013	7.554e-05	7.101e-05	0.0011	0.0010	0	0	0	0	0	0.0007	6.295e-06	9.934e-05	0.0013	7.222e-05	7.218e-05	7.708e-05	6.715e-05	0.0015	3.968e-05	3.125e-05	0.0007	0.0005	2.405e-05	0	0.0001	0	0	0	0	1.47e-05	0	0.0015	0.098	0.30800	T	0.382	0.15890	T	0.012	0.16265	B	0.013	0.16460	B	.	.	.	.	1	0.81001	D	0	0.06538	N	1.51	0.30937	T	-0.47	0.15178	N	0.111	0.09772	-1.0289	0.20811	T	0.027	0.11441	T	8	0.012343198	0.00266	T	0.006499	0.17129	T	0.059	0.16972	0.252	0.19067	0.367258803036	0.36341	0.04370498059482221	0.04315	0.147075874367	0.16591	0.458868026733	0.33154	T	0.090419	0.38581	T	-0.562788	0.00244	T	-0.621716	0.11050	T	0.071803942322731	0.08902	T	0.620638	0.23835	T	0.021515166	0.00759	0.05206446	0.08504	0.021515166	0.00758	0.05206446	0.08503	-3.463	0.15917	T	0.09724902022795344	0.06819	0.061	0.01367	B	.;.	.;.	3.065130	0.41174	21.3	0.99136737166203148	0.53410	0.85674	0.44832	D	AEFBI	0.098154	0.19785	N	-0.417124054511366	0.24869	1.345883	-0.227148360024212	0.30568	1.722206	0.337895916639707	0.19553	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.57	1.67	0.23149	1.994000	0.40377	2.803000	0.34863	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.2271:0.1844:0.2354:0.353	0.149	0.00085	541	0.72942	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1488.98	34	chr7	40092907	.	T	G	1488.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.280e+00;DP=864;ExcessHet=0.0000;FS=4.874;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.48;ReadPosRankSum=-3.670e-01;SOR=1.096	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1299	20	0	1	0
chr7	40459138	40459138	A	G	exonic	SUGCT	.	nonsynonymous SNV	SUGCT:NM_001193312:exon10:c.A782G:p.Y261C	Glutaric aciduria III, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.976	D	0.000	D	1.000	D	2.085	M	0.61	T	0.469	D	0.712	D	0.699	3.228	16.82	4.14	2.169	3.502	8.139	0.257	0.0631456692144	.	.	.	.	.	.	.	.	.	.	.	.	.	rs887613782	1.37e-06	1.368e-06	2.727e-06	0	.	2.3e-07	9e-08	.	.	0	0	0	0	3.786e-05	0	0	0	0	6.571e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.001	0.92824	D	0.999	0.77913	D	0.947	0.68407	D	0.000057	0.53742	D	0.129990	0.534084	0.31466	N	3.405	0.91733	M	0.61	0.53516	T	-6.12	0.90060	D	0.783	0.77978	0.469	0.90112	D	0.712	0.90119	D	10	0.9008051	0.89441	D	0.063146	0.68875	D	0.557	0.81774	0.758	0.88730	0.331365685468	0.32749	0.7446136044655388	0.74407	.	.	.	.	.	0.245068	0.61430	T	0.116469	0.66016	D	-0.0704769	0.65591	T	0.979018330574036	0.72615	D	0.911709	0.70896	D	0.8838923	0.89990	0.7951325	0.87965	0.8838923	0.89992	0.7951325	0.87966	-10.097	0.76525	D	.	.	0.550	0.78822	A	.;.;.	.;.;.	4.604969	0.72972	25.9	0.99827761345760402	0.91026	0.80147	0.39863	D	AEBI	0.664739	0.63380	D	0.620345800931648	0.74464	6.13694	0.583717138879838	0.73772	6.025587	0.996310083825769	0.34662	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.37	4.14	0.47821	2.929000	0.48610	6.590000	0.56023	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.8212:0.0:0.0:0.1788	8.139	0.30234	812	0.42537	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1115.98	35	chr7	40459138	.	A	G	1115.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.623;DP=765;ExcessHet=0.0000;FS=0.861;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=0.643;SOR=0.538	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr7	41690110	41690110	C	T	exonic	INHBA	.	nonsynonymous SNV	INHBA:NM_002192:exon3:c.G821A:p.G274E,	.	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.29	B	0.353	B	0.095	N	1.000	N	0	N	-1.17	T	-0.856	T	0.226	T	0.229	2.543	14.46	1.62	0.291	0.784	6.630	0.113	0.0852435035895	.	0.00139776	0.0010	0	0	0	0	0	0.0033	0.0070	0.0008215	127	154602	rs569482596	0.0004	0.0004	0.0002	0.0006	0.0071	0.0004	0.0004	0.0067	0.0065	5.974e-05	0	0	2.519e-05	0	0.0003	8.993e-07	0.0004	0.0071	0.0002	0.0002	0.0002	0.0003	0.0071	0.0002	0.0001	0.0052	0.0045	2.408e-05	0	0	0	0	0	0	0	0	0.0071	0.031	0.45039	D	0.022	0.57587	D	0.29	0.32311	B	0.353	0.42910	B	0.095082	0.20140	N	0.411149	0.999999	0.08975	N	0.695	0.17993	N	-1.17	0.78199	T	-0.25	0.11008	N	0.282	0.35408	-0.8560	0.51548	T	0.226	0.59020	T	10	0.0077072084	0.00175	T	0.085244	0.74492	D	0.113	0.31778	0.413	0.45052	0.584649576685	0.58138	0.4110953307297081	0.41025	1.07121117381	0.76816	0.464131623507	0.33877	T	0.331554	0.70161	T	-0.401331	0.02269	T	-0.346093	0.39653	T	0.0302777410490888	0.02032	T	0.49935	0.15589	T	0.071012765	0.15689	0.086830355	0.20142	0.071012765	0.15688	0.086830355	0.20142	-2.917	0.09314	T	.	.	0.074	0.04932	B	.;.;.	.;.;.	2.913759	0.38662	20.8	0.95966129871247874	0.28314	0.30795	0.24174	N	AEFBCI	0.121629	0.23638	N	-0.783813427030066	0.13731	0.6785982	-0.730490036399754	0.16203	0.8560286	0.999686208794456	0.41756	0.706548	0.73137	0	0.588015	0.36545	0	0.616094	0.41390	0	0.714379	0.83352	0	.	.	5.96	1.62	0.22817	0.902000	0.28088	2.822000	0.34969	0.549000	0.26987	0.806000	0.29799	0.982000	0.30508	0.699000	0.34110	0.0:0.4548:0.1717:0.3736	6.630	0.22044	861	0.33516	TGF-beta, propeptide;TGF-beta, propeptide;TGF-beta, propeptide	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3549.98	33	chr7	41690110	.	C	T	3549.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.06;DP=900;ExcessHet=0.0000;FS=1.154;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.51;ReadPosRankSum=0.154;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1230	20	0	1	0
chr7	43469070	43469070	C	T	exonic	HECW1	.	nonsynonymous SNV	HECW1:NM_001287059:exon14:c.C2962T:p.R988W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	D	1.000	D	0.945	L	-1.94	D	0.351	D	0.630	D	0.876	4.498	24.1	4.67	2.631	1.720	15.830	0.677	0.110743851129	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs957355401	6.841e-06	6.84e-06	5.445e-06	8.251e-06	4.472e-05	3.46e-06	2.52e-06	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	6.295e-06	0	1.159e-05	6.572e-06	6.566e-06	0	1.345e-05	6.547e-05	0	0	.	.	0	0	6.547e-05	0	0	0	0	0	0	0	0.001	0.78490	D	0.006	0.70582	D	1.0	0.90584	D	0.982	0.75477	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.28	0.64929	M	-1.94	0.84919	D	-6.21	0.90411	D	0.878	0.87590	0.351	0.88353	D	0.630	0.87009	D	10	0.8693989	0.86199	D	0.110744	0.78825	D	0.677	0.88109	0.702	0.83869	0.834039320202	0.83246	0.6893241818015614	0.68872	1.41684164526	0.85530	0.834777355194	0.87295	D	0.54003	0.84234	D	0.21957	0.75735	D	0.253467	0.85781	D	0.989045917987823	0.79308	D	0.987901	0.96056	D	0.7842466	0.82916	0.6214156	0.77944	0.7842466	0.82917	0.6214156	0.77945	-10.351	0.75986	D	.	.	0.953	0.87248	P	.;.	.;.	4.941616	0.81561	27.6	0.99933656673982685	0.99488	0.77294	0.37987	D	AEFBCI	0.776447	0.70955	D	0.483127821532792	0.66104	4.907292	0.497068682415365	0.67797	5.132154	0.999999918524766	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.58	4.67	0.58089	1.764000	0.38100	2.666000	0.33914	0.549000	0.26987	0.904000	0.31524	0.994000	0.32194	0.998000	0.85391	0.1364:0.8636:0.0:0.0	15.830	0.78518	851	0.35303	WW domain|WW domain|WW domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1140.98	34	chr7	43469070	.	C	T	1140.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.362;DP=791;ExcessHet=0.0000;FS=2.837;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=0.389;SOR=0.419	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1233	20	0	1	0
chr7	43624718	43624718	C	G	exonic	STK17A	.	nonsynonymous SNV	STK17A:NM_004760:exon7:c.C1121G:p.T374S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.013	B	0.006	B	0.033	N	1.000	D	0.205	N	-0.19	T	-1.042	T	0.109	T	0.182	2.035	12.76	3.72	0.900	6.175	12.521	0.074	0.0106320113374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.13045	T	0.317	0.19304	T	0.013	0.16609	B	0.006	0.12133	B	0.032718	0.24992	N	0.277746	0.998147	0.22327	N	2.075	0.57047	M	-0.19	0.65931	T	0.48	0.03041	N	0.064	0.03613	-1.0419	0.16741	T	0.109	0.39392	T	10	0.115400106	0.21741	T	0.010632	0.27388	T	0.074	0.21613	0.163	0.06730	0.613747831775	0.61063	0.2658683285844839	0.26499	0.239766953823	0.26521	0.495270937681	0.38170	T	0.009004	0.08229	T	-0.0823907	0.39325	T	-0.356125	0.38501	T	0.750056266784668	0.43288	D	.	.	.	0.12240565	0.28764	0.066225044	0.13534	0.12240565	0.28764	0.066225044	0.13534	-5.001	0.36851	T	.	.	0.181	0.39305	B	.	.	3.389122	0.46917	22.4	0.9659045393350808	0.30369	0.93177	0.57526	D	AEFGBCI	0.709470	0.66354	D	-0.372321133435478	0.26460	1.444228	-0.16957771568949	0.32663	1.86049	0.99999999377476	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.743671	0.96076	0	0.723	0.93126	0	.	.	4.61	3.72	0.41857	6.248000	0.72374	4.362000	0.43121	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9177:0.0:0.0823	12.521	0.55405	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1842	462.95	111	chr7	43624718	.	C	G	462.95	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-3.585e+00;DP=2195;ExcessHet=2.5830;FS=236.492;InbreedingCoeff=-0.2524;MLEAC=7;MLEAF=0.184;MQ=60.00;MQRankSum=0.00;QD=0.67;ReadPosRankSum=0.806;SOR=12.602	GT:AD:DP:GQ:PL	0/0:71,19:90:30:0,30,1658	12	0	7	2
chr7	43800512	43800512	G	A	exonic	BLVRA	.	nonsynonymous SNV	BLVRA:NM_000712:exon6:c.G400A:p.A134T	Hyperbiliverdinemia, Autosomal recessive, Autosomal dominant	.	0	1499	22	1	0	24	0.00794176	.	.	2117910	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.2	T	0.007	B	0.002	B	0.000	D	0.989	N	0.69	N	1.96	T	-1.047	T	0.030	T	0.15	2.239	13.44	3.53	1.406	3.449	6.838	0.052	0.00158489144956	0.0009	0.00119808	0.0014	0.0004	0	0.0005	0	0.0008	0	0.0065	0.0012225	189	154602	rs149777705	0.0009	0.0009	0.0007	0.0011	0.0070	0.0008	0.0008	0.0065	0.0063	0.0001	0.0002	7.653e-05	2.519e-05	0	0.0043	0.0005	0.0008	0.0070	0.0008	0.0008	0.0007	0.0008	0.0068	0.0006	0.0006	0.0050	0.0044	0.0004	0	0.0003	0	0	0	0.0102	0.0008	0.0009	0.0068	0.201	0.20306	T	0.106	0.37872	T	0.007	0.14184	B	0.002	0.06944	B	0.000017	0.62929	D	0.148180	0.988626	0.24389	N	0.895	0.22405	L	1.96	0.22270	T	-0.34	0.12661	N	0.174	0.18649	-1.0470	0.15246	T	0.030	0.12848	T	10	0.008343786	0.00189	T	0.001585	0.02523	T	0.052	0.14661	.	.	0.336892272479	0.33291	0.21129465543673692	0.21045	0.198753139644	0.22255	0.58534014225	0.50838	T	0.025684	0.19158	T	-0.532842	0.00370	T	-0.535278	0.18762	T	0.0120343098674384	0.00190	T	0.774123	0.40598	T	0.091147415	0.21350	0.07763785	0.17315	0.103402965	0.24441	0.101527795	0.24308	-4.616	0.32372	T	.	.	0.084	0.10208	B	.;.	.;.	3.536429	0.49643	22.8	0.99356288992233344	0.60820	0.60002	0.31072	D	AEFBI	0.145683	0.26894	N	-0.19555428789303	0.33318	1.888954	-0.0146671438037346	0.39051	2.309696	0.0205481302936694	0.13268	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.36	3.53	0.39533	3.428000	0.52560	5.140000	0.47705	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.267:0.0:0.733:0.0	6.838	0.23130	774	0.48577	Biliverdin reductase, catalytic;Biliverdin reductase, catalytic	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.04762	2095.11	34	chr7	43800512	.	G	A	2095.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-7.400e-02;DP=847;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.39;ReadPosRankSum=-7.000e-03;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1120	19	0	2	0
chr7	43877409	43877409	C	A	exonic	URGCP	.	nonsynonymous SNV	URGCP:NM_017920:exon5:c.G2027T:p.R676L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.018	B	0.007	B	0.020	N	0.987	N	0.985	L	2.91	T	-1.021	T	0.022	T	0.589	1.527	11.06	4.94	1.472	0.935	8.829	0.141	0.00756999849731	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1328166812	6.844e-07	6.84e-07	1.362e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.344	0.12552	T	0.018	0.59732	D	0.018	0.17786	B	0.007	0.12992	B	0.019924	0.27150	N	0.368208	0.99958	0.20930	N	1.56	0.39490	L	2.91	0.10101	T	-0.82	0.22508	N	0.47	0.50958	-1.0211	0.23357	T	0.022	0.09238	T	10	0.3016625	0.47708	T	0.00757	0.20086	T	0.141	0.37795	0.373	0.38503	0.192905019026	0.18896	0.5516371102167222	0.55089	1.57374072509	0.88235	0.531145036221	0.43196	T	0.225432	0.59016	T	-0.151613	0.28060	T	-0.455558	0.27084	T	0.447388380765915	0.30701	T	0.89651	0.63872	D	0.09490706	0.22324	0.05234652	0.08607	0.09490706	0.22324	0.05234652	0.08606	-3.871	0.21869	T	.	.	0.141	0.31023	B	.;.;.;.	.;.;.;.	2.037185	0.25894	16.93	0.99486068736685485	0.67180	0.85132	0.44239	D	AEFGBCIJ	0.168417	0.29517	N	-0.29509975554108	0.29337	1.625985	-0.148183874660617	0.33478	1.915446	0.995652312962109	0.34247	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.82	4.94	0.64645	0.760000	0.26140	0.804000	0.21687	0.599000	0.40250	0.034000	0.20669	0.373000	0.24578	0.425000	0.27339	0.0:0.8317:0.0:0.1683	8.829	0.34235	769	0.49307	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2711.98	134	chr7	43877409	.	C	A	2711.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.190e-01;DP=3100;ExcessHet=0.0000;FS=3.979;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.29;ReadPosRankSum=0.286;SOR=0.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:186,0:186:99:.:.:0,120,1800	20	0	1	0
chr7	43878181	43878181	C	T	exonic	URGCP	.	nonsynonymous SNV	URGCP:NM_017920:exon5:c.G1255A:p.V419M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.986	D	0.736	P	0.014	N	0.869	N	1.5	L	2.86	T	-1.101	T	0.041	T	0.394	1.342	10.41	3.66	0.662	1.757	9.429	0.049	0.00953175416541	.	0.000199681	4.968e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs549475424	2.599e-05	2.599e-05	1.906e-05	3.3e-05	0.0004	1.932e-05	1.692e-05	0.0003	0.0002	0	0	0	0	0	0.0002	4.496e-06	1.656e-05	0.0004	1.969e-05	1.968e-05	1.285e-05	2.685e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	0	0	0.0006	0.003	0.68238	D	0.005	0.72224	D	0.986	0.61523	D	0.736	0.55529	P	0.013793	0.28730	N	0.347831	0.999999	0.08975	N	1.655	0.42436	L	2.86	0.10482	T	-2.53	0.54864	D	0.365	0.42834	-1.1015	0.03914	T	0.041	0.17657	T	10	0.058537155	0.06896	T	0.009532	0.24947	T	0.049	0.13647	0.363	0.36874	0.0954503805726	0.09146	0.5490650803389757	0.54832	1.04732435753	0.76000	0.528758645058	0.42858	T	0.086845	0.37812	T	-0.358845	0.04196	T	-0.442714	0.28504	T	0.52882307767868	0.33690	D	0.875412	0.58680	D	0.122735195	0.28834	0.18796338	0.42059	0.122735195	0.28834	0.18796338	0.42058	-7.417	0.57024	T	.	.	0.312	0.53951	B	.;.;.;.	.;.;.;.	2.515786	0.32499	19.06	0.99326812769823225	0.59622	0.33179	0.24766	N	AEFBI	0.123624	0.23931	N	-0.0858675045998249	0.38011	2.21991	-0.217820904550292	0.30897	1.743666	0.999986275941694	0.51787	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	5.48	3.66	0.41111	1.241000	0.32346	1.503000	0.26970	0.549000	0.26987	0.001000	0.13787	0.847000	0.27355	0.794000	0.37478	0.0:0.7753:0.1443:0.0804	9.429	0.37760	769	0.49307	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	875.98	38	chr7	43878181	.	C	T	875.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.130e-01;DP=969;ExcessHet=0.0000;FS=0.834;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=-1.016e+00;SOR=0.804	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr7	43879002	43879002	T	G	exonic	URGCP	.	nonsynonymous SNV	URGCP:NM_017920:exon5:c.A434C:p.E145A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.015	B	0.025	B	0.248	N	1.000	N	1.39	L	0.9	T	-1.003	T	0.078	T	0.254	0.174	4.935	2.97	0.330	1.121	7.834	0.033	0.00594253258686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.51248	T	0.708	0.33000	T	0.015	0.17086	B	0.025	0.20508	B	0.248425	0.15561	N	0.637601	1	0.08975	N	2.165	0.60562	M	0.9	0.45248	T	-0.89	0.39314	N	0.243	0.28381	-1.0029	0.29080	T	0.078	0.31224	T	10	0.054965615	0.05933	T	0.005943	0.15490	T	0.033	0.08068	0.278	0.23164	0.183819452728	0.17975	0.450066931358802	0.44924	0.749488687715	0.63696	0.415336340666	0.27194	T	0.06376	0.32258	T	-0.152948	0.27851	T	-0.457476	0.26875	T	0.0899571776390076	0.11213	T	0.869813	0.57621	D	0.0491841	0.08693	0.033913333	0.02367	0.0491841	0.08693	0.033913333	0.02366	-4.684	0.33210	T	.	.	0.158	0.34840	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.088837	0.26572	17.16	0.88969898570306249	0.18403	0.36213	0.25481	N	AEFDGBCIJ	0.091447	0.18523	N	-0.496319526475206	0.22201	1.183776	-0.379122858488884	0.25620	1.410067	0.999999985240686	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.616919	0.45865	0	.	.	5.44	2.97	0.33479	1.039000	0.29876	3.436000	0.38348	0.665000	0.62972	0.002000	0.15269	1.000000	0.68203	0.997000	0.79791	0.0:0.1863:0.0:0.8137	7.834	0.28521	769	0.49307	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1668.98	38	chr7	43879002	.	T	G	1668.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.150e-01;DP=960;ExcessHet=0.0000;FS=0.641;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=0.944;SOR=0.585	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr7	44052885	44052885	G	C	exonic	DBNL	.	nonsynonymous SNV	DBNL:NM_001014436:exon4:c.G271C:p.D91H	.	.	426	1070	25	1	0	27	0.0124596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	1.0	D	1.0	D	0.000	D	1.000	D	2.36	M	1.33	T	-0.188	T	0.396	T	0.866	3.578	18.23	5.33	2.505	7.756	14.682	0.377	.	0.0013	0.00499201	0.0035	0	0.0012	0.0004	0	0.0012	0.0058	0.0189	0.0030465	471	154602	rs139647339	0.0022	0.0022	0.0017	0.0028	0.0193	0.0022	0.0022	0.0185	0.0182	0.0002	0.0011	0.0002	0	1.882e-05	0.0085	0.0012	0.0022	0.0193	0.0015	0.0015	0.0012	0.0017	0.0215	0.0013	0.0012	0.0182	0.0169	0.0001	0	0.0018	0	0.0004	0	0	0.0011	0.0024	0.0215	0.213	0.20306	T	0.579	0.19362	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.89	0.83701	M	1.33	0.35031	T	-4.01	0.76254	D	0.855	0.87481	-0.1876	0.77989	T	0.396	0.74858	T	10	0.0092229545	0.00208	T	.	.	.	0.377	0.69527	.	.	0.804634121527	0.80281	0.8291163487985999	0.82869	2.22236575028	0.95846	0.762620568275	0.76320	T	0.529261	0.83680	D	-0.118421	0.33381	T	0.0720562	0.75047	D	0.122179954687555	0.14641	T	0.956971	0.90895	D	0.4046013	0.61050	0.34679255	0.60343	0.4046013	0.61050	0.34679255	0.60342	-11.653	0.83908	D	.	.	0.858	0.80211	P	.;.;.;.	.;.;.;.	4.455114	0.69291	25.4	0.99383301760627984	0.61979	0.95755	0.66016	D	AEFDGBHCI	0.962461	0.98406	D	0.410057472336601	0.61974	4.406109	0.398860132209106	0.61493	4.35035	0.999999982135241	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.33	5.33	0.75683	7.775000	0.84243	11.695000	0.94414	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.379000	0.26312	0.0:0.0:0.8542:0.1458	14.682	0.68635	698	0.58074	Actin-depolymerising factor homology domain|Actin-depolymerising factor homology domain|Actin-depolymerising factor homology domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1096.98	37	chr7	44052885	.	G	C	1096.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=797;ExcessHet=0.0000;FS=0.880;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.25;ReadPosRankSum=-1.570e+00;SOR=0.889	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1276	20	0	1	0
chr7	44073678	44073678	G	A	exonic	POLM	.	nonsynonymous SNV	POLM:NM_001284330:exon8:c.C1105T:p.R369W	.	.	414	1105	3	0	0	3	0.00135563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.515	P	0.066	B	0.182	N	1.000	N	1.21	L	0.88	T	-1.069	T	0.057	T	0.269	2.514	14.36	-0.926	-0.121	0.155	4.392	0.045	0.00930462899442	.	.	8.298e-05	0	0.0002	0.0007	0	3.021e-05	0	0	6.47e-05	10	154602	rs776279019	7.456e-05	7.456e-05	7.351e-05	7.563e-05	0.0008	6.315e-05	5.873e-05	0.0006	0.0005	2.987e-05	0.0001	0	0.0008	0	0.0003	4.586e-05	9.936e-05	0.0002	3.282e-05	3.281e-05	2.57e-05	4.027e-05	0.0006	1.26e-05	7.97e-06	0.0002	9e-05	0	0	0	0	0.0004	0	0	0	0	0.0006	0.12	0.39097	T	0.182	0.57587	T	0.05	0.22331	B	0.008	0.13708	B	0.181915	0.17080	N	0.565412	0.999823	0.20203	N	1.685	0.43254	L	0.88	0.46028	T	-3.34	0.67477	D	0.275	0.31140	-1.0686	0.09723	T	0.057	0.24018	T	10	0.06276685	0.08077	T	0.009305	0.24413	T	0.045	0.12272	0.466	0.53729	0.616247408722	0.61314	0.44482081446690136	0.44400	0.134925717983	0.15200	0.309586584568	0.11845	T	0.48717	0.81334	T	-0.431938	0.01443	T	-0.495192	0.22848	T	0.0759551819800426	0.09462	T	0.877412	0.59601	D	0.30978394	0.53767	0.20341583	0.44417	0.30978394	0.53767	0.20341583	0.44416	-7.379	0.56757	T	.	.	0.098	0.62341	B	.;.;.	.;.;.	3.222161	0.43907	21.8	0.98541546545450098	0.42719	0.08384	0.14320	N	AEFDBCIJ	0.248864	0.36919	N	-0.577776744499881	0.19620	1.028328	-0.551904871165229	0.20755	1.119698	0.999999872472335	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.723109	0.80598	0	0.372554	0.06265	0	.	.	5.63	-0.926	0.09923	0.177000	0.16615	-0.078000	0.12213	0.654000	0.53741	0.002000	0.15269	0.001000	0.17328	0.996000	0.76049	0.2298:0.0:0.3664:0.4038	4.392	0.10775	680	0.59965	.;DNA polymerase beta, thumb domain|DNA-directed DNA polymerase X|DNA-directed DNA polymerase X;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	974.98	37	chr7	44073678	.	G	A	974.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.93;DP=820;ExcessHet=0.0000;FS=5.186;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.85;ReadPosRankSum=0.018;SOR=0.859	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,111,1405	20	0	1	0
chr7	44106852	44106852	C	G	exonic	AEBP1	.	nonsynonymous SNV	AEBP1:NM_001129:exon2:c.C560G:p.P187R,	.	.	420	1094	8	0	0	8	0.00364299	.	.	750649	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.12	T	0.255	B	0.12	B	0.372	N	1.000	N	0.55	N	-3.56	D	-0.211	T	0.647	D	0.292	1.037	9.236	0.628	-0.191	0.273	4.013	0.238	.	0.0013	0.000798722	0.0051	0.0004	0.0002	0	0.0336	0.0059	0.0045	0.0040	0.0028331	438	154602	rs200193837	0.0033	0.0033	0.0033	0.0033	0.0039	0.0032	0.0032	0.0036	0.0035	0.0006	0.0003	7.831e-05	0.0001	0.0179	0.0016	0.0030	0.0031	0.0039	0.0027	0.0027	0.0022	0.0031	0.0029	0.0024	0.0024	0.0026	0.0025	0.0006	0	0.0005	0	0.0002	0.0148	0	0.0029	0.0009	0.0029	0.004	0.65419	D	0.166	0.30828	T	0.255	0.31319	B	0.12	0.32230	B	0.372184	0.04369	N	1.472890	1	0.08975	N	0.805	0.20218	L	-3.56	0.94869	D	-1.22	0.90140	N	0.182	0.19728	-0.2110	0.77388	T	0.647	0.87680	D	10	0.0043455064	0.00088	T	.	.	.	0.238	0.54217	.	.	0.283761946502	0.27984	0.22185666705216384	0.22100	0.0222841121014	0.02237	0.269097685814	0.06023	T	0.072052	0.38864	T	-0.297239	0.08923	T	-0.200021	0.54644	T	0.0095557330640368	0.00124	T	0.517048	0.16713	T	0.078268185	0.17815	0.047372367	0.06808	0.076724626	0.17369	0.04285519	0.05199	-6.013	0.46389	T	.	.	0.064	0.19235	B	.;.	.;.	1.301560	0.17036	12.92	0.98550587988027338	0.42846	0.14938	0.18662	N	AEFDBI	0.118483	0.23166	N	-0.993467503356965	0.08742	0.4110888	-1.01524181308178	0.09449	0.4702044	0.999943077630744	0.47345	0.695654	0.57023	0	0.610034	0.51514	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.89	0.628	0.16854	-0.896000	0.04222	1.037000	0.23526	-0.223000	0.07921	0.000000	0.06391	0.002000	0.18203	0.015000	0.10482	0.3131:0.4966:0.0:0.1903	4.013	0.09119	628	0.65206	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	810.98	32	chr7	44106852	.	C	G	810.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=676;ExcessHet=0.0000;FS=0.981;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=2.51;SOR=0.843	GT:AD:DP:GQ:PL	0/0:25,0:25:72:0,72,820	20	0	1	0
chr7	44109137	44109139	AGG	-	exonic	AEBP1	.	nonframeshift deletion	AEBP1:NM_001129:exon8:c.1049_1051del:p.E352del,	.	.	419	1099	4	0	0	4	0.00181653	.	.	1498944	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	.	0.0002	0	0.0003	0	0	0.0002	0	0.0002	0.0001552	24	154602	rs776612900	0.0002	0.0002	0.0002	0.0003	0.0064	0.0002	0.0002	0.0048	0.0042	5.974e-05	0.0005	7.652e-05	0	1.888e-05	0.0064	0.0002	0.0008	0.0002	0.0003	0.0003	0.0002	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	7.22e-05	0	0.0005	0	0	0	0.0034	0.0004	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1278.94	37	chr7	44109136	.	AAGG	A	1278.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.271e+00;DP=888;ExcessHet=0.0000;FS=11.722;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.19;ReadPosRankSum=1.85;SOR=1.537	GT:AD:DP:GQ:PL	0/1:45,34:79:99:1293,0,1773	20	0	1	0
chr7	44114179	44114181	AGA	-	exonic	AEBP1	.	nonframeshift deletion	AEBP1:NM_001129:exon21:c.3395_3397del:p.K1133del,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0012	0.0010	0.0001	0.0002	0.0010	0.0011	0.0013	0.0011319	175	154602	rs758448838	1.327e-05	0.0059	1.53e-05	1.122e-05	0.0003	8.49e-06	6.84e-06	0.0002	0.0001	0.0003	0	0	0	3.824e-05	0	4.602e-06	1.688e-05	0	2.632e-05	0.0001	2.573e-05	2.694e-05	9.68e-05	8.15e-06	5.15e-06	3.256e-05	1.919e-05	9.68e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	117.94	35	chr7	44114178	.	GAGA	G	117.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.238;DP=1118;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.11;ReadPosRankSum=-1.730e-01;SOR=0.578	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,111,1665	20	0	1	0
chr7	44114181	44114181	A	0	exonic	AEBP1	.	.	.	.	.	0	89	99	37	1	174	0.492877	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	36873.42	35	chr7	44114181	.	A	G,*	36873.42	.	AC=18,1;AF=0.429,0.024;AN=42;BaseQRankSum=-9.170e-01;DP=2196;ExcessHet=0.0777;FS=0.000;InbreedingCoeff=0.3272;MLEAC=18,1;MLEAF=0.429,0.024;MQ=60.00;MQRankSum=0.00;QD=19.92;ReadPosRankSum=-2.890e-01;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,150,0:150:99:.:.:4532,448,0,4532,448,4532	8	5	7	0
chr7	44490495	44490495	G	A	exonic	NUDCD3	.	nonsynonymous SNV	NUDCD3:NM_015332:exon1:c.C106T:p.R36C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	3.1	M	-0.79	T	0.435	D	0.633	D	0.925	4.525	24.4	4.54	2.487	6.506	14.489	0.863	0.421652900011	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1473039389	6.859e-07	2.736e-06	0	1.379e-06	9.006e-07	0	0	.	.	0	0	0	0	0	0	9.006e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.45	0.92227	M	-0.79	0.73739	T	-6.66	0.92302	D	0.895	0.89465	0.435	0.89622	D	0.633	0.87139	D	10	0.9012434	0.89485	D	0.421653	0.93805	D	0.863	0.95839	0.712	0.84781	0.825169386555	0.82351	0.8422910699275779	0.84189	1.03642533808	0.75623	0.914142012596	0.97846	D	0.415096	0.76846	T	0.402303	0.90049	D	0.340104	0.89924	D	0.998225390911102	0.93561	D	0.965803	0.87368	D	0.788375	0.83171	0.84052986	0.90873	0.788375	0.83173	0.84052986	0.90874	-11.85	0.84113	D	.	.	0.962	0.88272	P	.	.	5.378555	0.90144	31	0.99928119882100042	0.99222	0.43230	0.27052	N	ALL	0.795593	0.72297	D	0.802367583806827	0.86253	8.826563	0.703488067145754	0.82644	7.818234	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.54	4.54	0.55220	5.540000	0.66915	11.505000	0.92979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	14.489	0.67218	783	0.47268	NudC N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1026.98	33	chr7	44490495	.	G	A	1026.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.335;DP=778;ExcessHet=0.0000;FS=0.845;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=0.339;SOR=0.836	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1094	20	0	1	0
chr7	44539148	44539148	G	A	exonic	NPC1L1	.	nonsynonymous SNV	NPC1L1:NM_001101648:exon2:c.C1249T:p.R417W	.	.	425	1089	8	0	0	8	0.00365965	.	.	3191555	NPC1L1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.999	D	0.855	P	0.000	D	1.000	N	2.48	M	-2.4	D	0.147	D	0.761	D	0.827	2.363	13.86	3.13	0.443	2.457	11.552	0.600	0.146625606804	0.0012	0.000199681	0.0013	9.623e-05	0.0003	0	0.0003	0.0019	0.0011	0.0012	0.0011449	177	154602	rs139659653	0.0012	0.0012	0.0012	0.0013	0.0019	0.0012	0.0012	0.0011	0.0011	0.0001	0.0007	0.0118	0	0.0001	0.0019	0.0012	0.0015	0.0010	0.0010	0.0010	0.0010	0.0010	0.0015	0.0008	0.0008	0.0010	0.0009	0.0001	0	0.0005	0.0121	0.0002	9.427e-05	0	0.0012	0.0009	0.0015	0.104	0.46129	T	0.002	0.83351	D	0.999	0.77913	D	0.855	0.60933	P	0.000096	0.51296	D	0.125811	0.999984	0.19238	N	2.97	0.85306	M	-2.4	0.88455	D	-2.92	0.66325	D	0.549	0.58373	0.147	0.85004	D	0.761	0.91876	D	10	0.010629088	0.00236	T	0.146626	0.82873	D	0.600	0.84183	.	.	0.935226504704	0.93455	0.7446716218337328	0.74413	0.517787163206	0.49640	0.248774603009	0.03639	T	0.228255	0.59376	T	-0.0594518	0.42992	T	0.101292	0.76994	D	0.106556107136096	0.13063	T	0.931907	0.74605	D	0.114302084	0.26985	0.0862351	0.19965	0.114302084	0.26985	0.0862351	0.19965	-6.116	0.54070	T	.	.	0.132	0.37596	B	.;.;.;.	.;.;.;.	3.534790	0.49613	22.8	0.99787104343050581	0.87308	0.50755	0.28736	D	AEFDBI	0.493239	0.52954	N	0.0518067213206006	0.44226	2.700493	-0.0926892771035825	0.35691	2.067921	0.999990532074869	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.05	3.13	0.35090	0.417000	0.20934	2.594000	0.33484	0.676000	0.76740	0.000000	0.06391	0.239000	0.23838	0.995000	0.73285	0.0:0.0:0.6755:0.3245	11.552	0.49980	783	0.47268	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1602.98	35	chr7	44539148	.	G	A	1602.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.41;DP=817;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=1.09;SOR=0.755	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1381	20	0	1	0
chr7	44570813	44570813	C	T	exonic	DDX56	.	nonsynonymous SNV	DDX56:NM_019082:exon7:c.G955A:p.V319I,	.	.	434	1077	11	0	0	11	0.00508083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.001	B	0.003	B	0.022	N	1.000	D	0	N	-0.98	T	-1.012	T	0.149	T	0.186	1.644	11.46	3.42	0.766	0.967	4.131	0.064	0.0118273258257	0.0009	0.000599042	0.0012	0.0002	0.0006	0	0.0008	0.0013	0.0033	0.0025	0.0011319	175	154602	rs150431895	0.0013	0.0013	0.0012	0.0014	0.0042	0.0013	0.0013	0.0029	0.0024	0.0002	0.0008	3.827e-05	0	0.0005	0.0042	0.0014	0.0015	0.0023	0.0011	0.0011	0.0011	0.0012	0.0021	0.0010	0.0010	0.0016	0.0015	0.0003	0	0.0008	0.0003	0	0.0007	0.0068	0.0018	0.0028	0.0021	0.293	0.14843	T	0.447	0.13066	T	0.001	0.07471	B	0.003	0.08700	B	0.022465	0.26628	N	0.442265	1	0.81001	D	0.425	0.12573	N	-0.98	0.75789	T	-0.37	0.13226	N	0.214	0.23884	-1.0120	0.26291	T	0.149	0.47575	T	10	0.008664697	0.00196	T	0.011827	0.29841	T	0.064	0.18567	.	.	0.486779940545	0.48312	0.46082239846636947	0.46000	0.114167019288	0.12873	0.351416319609	0.18130	T	0.11823	0.43889	T	-0.422443	0.01650	T	-0.385134	0.35121	T	0.0098091396241014	0.00129	T	0.60234	0.22547	T	0.01351587	0.00061	0.020818803	0.00157	0.01351587	0.00061	0.020818803	0.00157	-5.063	0.37516	T	.	.	0.075	0.05317	B	.	.	2.304970	0.29499	18.14	0.93196650841988415	0.22863	0.65503	0.32759	D	AEFBCI	0.067357	0.13238	N	-0.466900810593887	0.23171	1.242427	-0.279856340593549	0.28763	1.606199	0.99690119972145	0.35104	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.23	3.42	0.38259	1.419000	0.34400	2.197000	0.31255	0.596000	0.33519	0.957000	0.33433	1.000000	0.68203	0.970000	0.54328	0.1846:0.6231:0.0:0.1923	4.131	0.09618	799	0.44747	Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2571.98	41	chr7	44570813	.	C	T	2571.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=956;ExcessHet=0.0000;FS=0.480;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=0.618;SOR=0.639	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1349	20	0	1	0
chr7	44571636	44571636	T	C	exonic	DDX56	.	nonsynonymous SNV	DDX56:NM_001257189:exon6:c.A746G:p.Y249C	.	.	430	1037	55	0	0	55	0.0258337	.	.	700085	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.17	T	0.751	P	0.396	B	0.000	D	1.000	D	0.715	N	3.81	T	-0.825	T	0.005	T	0.844	3.871	19.67	5.82	2.214	3.647	14.121	0.250	.	0.0059	0.00978435	0.0095	0.0016	0.0022	0.0182	0.0033	0.0068	0.0099	0.0288	0.0090232	1395	154602	rs41279639	0.0090	0.0090	0.0083	0.0097	0.0303	0.0089	0.0088	0.0289	0.0283	0.0014	0.0017	0.0006	0.0303	0.0044	0.0243	0.0076	0.0085	0.0287	0.0062	0.0062	0.0060	0.0063	0.0286	0.0058	0.0057	0.0247	0.0232	0.0014	0.0011	0.0027	0.0003	0.0189	0.0039	0.0136	0.0080	0.0043	0.0286	0.039	0.42487	D	0.048	0.48594	D	0.751	0.43285	P	0.396	0.44364	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.915	0.23335	L	3.73	0.03982	T	-7.8	0.95924	D	0.614	0.63035	-0.8252	0.53607	T	0.005	0.01797	T	10	0.008875042	0.00201	T	.	.	.	0.250	0.55888	.	.	0.317084106153	0.31322	0.7164207853053588	0.71585	0.199772270355	0.22381	0.637889862061	0.58264	T	0.488993	0.81440	T	-0.252098	0.13842	T	-0.112585	0.62404	T	0.0423521330847552	0.04119	T	0.925407	0.84742	D	0.5848839	0.71874	0.57050467	0.75130	0.5848839	0.71875	0.57050467	0.75131	-5.711	0.43791	T	.	.	0.118	0.49186	B	.;.	.;.	2.974309	0.39654	21.0	0.99690544516304314	0.79909	0.88637	0.48659	D	AEFDBCI	0.584528	0.58331	D	0.136328287056016	0.48164	3.032313	0.271139031623838	0.53862	3.553123	0.999999999996311	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.82	5.82	0.92740	3.660000	0.54234	5.069000	0.47160	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.737000	0.35335	0.0:0.0:0.0:1.0	14.121	0.64717	799	0.44747	Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;.	.	.	.	.	rs41279639	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2031.98	43	chr7	44571636	.	T	C	2031.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.06;DP=940;ExcessHet=0.0000;FS=3.436;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.35;ReadPosRankSum=2.40;SOR=0.771	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1300	20	0	1	0
chr7	44966141	44966141	G	A	exonic	MYO1G	.	nonsynonymous SNV	MYO1G:NM_033054:exon16:c.C2089T:p.R697W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.994	D	0.556	P	0.209	N	1.000	D	2.16	M	-2.31	D	0.202	D	0.631	D	0.529	3.907	19.87	2.61	0.379	6.332	12.223	0.484	0.152233885452	0.0002	0.000199681	0.0001	0.0004	8.706e-05	0	0	0	0	0.0006	0.0001035	16	154602	rs374399060	5.203e-05	5.199e-05	2.997e-05	7.43e-05	0.0006	4.261e-05	3.891e-05	0.0005	0.0005	0.0002	6.708e-05	0	0	0	0	3.597e-06	9.938e-05	0.0006	0.0001	0.0001	8.995e-05	0.0001	0.0008	6.509e-05	5.321e-05	0.0003	0.0002	0.0003	0	0	0	0	0	0	1.47e-05	0	0.0008	0.001	0.78490	D	0.004	0.74150	D	0.994	0.66517	D	0.556	0.49411	P	0.208891	0.16414	N	0.450190	0.999948	0.51968	D	3.365	0.91266	M	-2.31	0.87750	D	-4.64	0.79316	D	0.618	0.63374	0.202	0.85937	D	0.631	0.87050	D	10	0.2580405	0.43227	T	0.152234	0.83368	D	0.484	0.77335	.	.	0.691485849014	0.68883	0.7104444730820757	0.70986	0.620721027609	0.56377	0.340287715197	0.16481	T	0.382101	0.74426	T	-0.105536	0.35506	T	-0.0135263	0.69454	D	0.799919545650482	0.46347	D	0.986301	0.95349	D	0.20616086	0.42781	0.22052397	0.46831	0.20616086	0.42781	0.22052397	0.46830	-10.18	0.74982	D	.	.	0.120	0.26576	B	.;.	.;.	4.944737	0.81627	27.6	0.9990384112405869	0.97502	0.89391	0.49827	D	AEFDGBHCI	0.810911	0.73403	D	0.21566672016446	0.51959	3.37322	0.106305225676929	0.44870	2.760523	0.9999999776744	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.550215	0.18615	0	0.613276	0.41899	0	.	.	4.54	2.61	0.30255	6.547000	0.73792	5.459000	0.48667	0.676000	0.76740	0.997000	0.40164	0.988000	0.31051	0.450000	0.27895	0.0:0.0:0.7237:0.2763	12.223	0.53755	716	0.55970	Myosin head, motor domain|Myosin head, motor domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1145.98	38	chr7	44966141	.	G	A	1145.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=827;ExcessHet=0.0000;FS=0.702;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.88;ReadPosRankSum=1.10;SOR=0.598	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1449	20	0	1	0
chr7	44967694	44967694	C	T	exonic	MYO1G	.	nonsynonymous SNV	MYO1G:NM_033054:exon14:c.G1693A:p.D565N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.591	P	0.391	B	0.001	D	0.560	N	0.905	L	-0.62	T	-0.657	T	0.214	T	0.098	2.996	15.99	4.48	1.383	1.917	6.227	0.045	0.0345319884909	.	.	8.274e-06	0	0	0	0	1.509e-05	0	0	6.5e-06	1	154602	rs747346222	2.737e-06	2.736e-06	1.362e-06	4.127e-06	2.319e-05	6.4e-07	4.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	1.799e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.323	0.18959	T	0.037	0.20876	B	0.081	0.28987	B	0.000605	0.42945	D	0.000000	0.560078	0.31264	N	0.785	0.19527	N	-0.62	0.71895	T	-0.86	0.23372	N	0.388	0.42931	-0.6568	0.62417	T	0.214	0.57573	T	10	0.13840151	0.26322	T	0.034532	0.55736	D	0.045	0.12272	0.403	0.43408	0.62036161985	0.61728	0.274427949162739	0.27355	1.10983627166	0.78020	0.590180754662	0.51519	T	0.194843	0.55074	T	-0.219646	0.18042	T	-0.456429	0.26988	T	0.425056667081326	0.29877	T	0.79652	0.44001	T	0.12833177	0.30005	0.060595177	0.11566	0.12833177	0.30005	0.060595177	0.11566	-2.831	0.08472	T	.	.	0.105	0.19194	B	.;.	.;.	4.227958	0.63999	24.6	0.99756227976626988	0.84694	0.74250	0.36320	D	ALL	0.274893	0.38997	N	-0.0725746040385274	0.38599	2.263142	0.0638129830721016	0.42745	2.590812	0.999999999999985	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.440839	0.06518	1	0.636	0.56748	0	.	.	5.36	4.48	0.53973	2.028000	0.40709	3.993000	0.41005	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.6841:0.1642:0.1517	6.227	0.19925	721	0.55360	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1197.98	34	chr7	44967694	.	C	T	1197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=804;ExcessHet=0.0000;FS=0.814;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.09;ReadPosRankSum=0.243;SOR=0.736	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1003	20	0	1	0
chr7	45074280	45074280	A	G	exonic	CCM2	.	nonsynonymous SNV	CCM2:NM_001167935:exon7:c.A653G:p.K218R	Cerebral cavernous malformations-2, Autosomal dominant	.	0	1516	6	0	0	6	0.00197498	.	.	1904347	Cerebral_cavernous_malformation_2|CCM2-related_disorder	MONDO:MONDO:0011304,MedGen:C1864041,OMIM:603284,Orphanet:221061|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.23	T	0.999	D	0.994	D	0.000	D	1.000	D	2.08	M	0.95	T	-0.813	T	0.213	T	0.471	3.848	19.55	4.38	0.932	6.311	10.580	0.123	0.0222999986156	.	0.000199681	0.0004	0	8.678e-05	0	0	4.574e-05	0.0011	0.0025	0.0003105	48	154602	rs535112809	0.0002	0.0002	8.443e-05	0.0002	0.0020	0.0001	0.0001	0.0017	0.0017	0	0.0001	0.0003	0	0	0.0003	1.709e-05	0.0003	0.0020	8.533e-05	8.53e-05	6.423e-05	0.0001	0.0012	4.952e-05	3.959e-05	0.0005	0.0004	0	0	0.0001	0.0012	0	0	0	1.47e-05	0	0.0012	0.21	0.21385	T	0.094	0.39954	T	0.069	0.23796	B	0.043	0.24256	B	0.000000	0.84330	D	0.000000	0.999447	0.48141	D	2.72	0.79541	M	0.95	0.43279	T	-1.7	0.43717	N	0.552	0.72656	-0.8130	0.54368	T	0.213	0.57428	T	10	0.020220488	0.00462	T	0.022	0.45174	T	0.123	0.34020	0.185	0.09388	0.481839736002	0.47815	0.46725758910003895	0.46644	0.897202074903	0.70499	0.637927770615	0.58269	T	0.180566	0.53194	T	-0.380406	0.03098	T	-0.324751	0.42052	T	0.106862617655676	0.13095	T	0.929607	0.76420	D	0.3594364	0.57793	0.20942879	0.45288	0.38879427	0.59946	0.26600584	0.52439	-5.668	0.43880	T	0.36726880359443415	0.46316	0.302	0.58411	B	.;.;.;.;.;.	.;.;.;.;.;.	4.412086	0.68264	25.2	0.99801091825162658	0.88550	0.81224	0.40673	D	AEFDGBCI	0.855395	0.77251	D	0.277585257035882	0.55013	3.665862	0.325707837167268	0.57056	3.870083	0.999999965752277	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.54	4.38	0.52019	6.274000	0.72607	11.071000	0.85588	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.923:0.0:0.077:0.0	10.580	0.44442	726	0.54788	Cerebral cavernous malformations 2, harmonin-homology domain|Cerebral cavernous malformations 2, harmonin-homology domain;.;.;Cerebral cavernous malformations 2, harmonin-homology domain|Cerebral cavernous malformations 2, harmonin-homology domain;.;Cerebral cavernous malformations 2, harmonin-homology domain|Cerebral cavernous malformations 2, harmonin-homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1615.98	33	chr7	45074280	.	A	G	1615.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=823;ExcessHet=0.0000;FS=4.109;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=-1.608e+00;SOR=1.078	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1205	20	0	1	0
chr7	45083137	45083137	C	A	exonic	NACAD	.	nonsynonymous SNV	NACAD:NM_001146334:exon2:c.G3043T:p.A1015S,	.	.	.	.	.	.	.	.	.	.	.	3447859	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.013	B	0.004	B	0.014	N	1.000	N	0.895	L	2.76	T	-0.983	T	0.022	T	0.032	-0.581	1.389	-1.22	-0.115	-1.005	4.544	0.009	0.00960367811978	.	0.000399361	0.0008	0	0	0	0	0	0	0.0019	0.00011	17	154602	rs576670818	0.0002	0.0002	8.607e-05	0.0003	0.0028	0.0002	0.0001	0.0025	0.0024	0	0	0	0	0	0.0005	1.854e-06	0.0001	0.0028	6.563e-05	6.561e-05	2.569e-05	0.0001	0.0019	3.513e-05	2.613e-05	0.0010	0.0007	2.405e-05	0	0	0	0	0	0	0	0	0.0019	0.273	0.15876	T	0.492	0.11479	T	0.013	0.16609	B	0.004	0.10090	B	0.014284	0.01386	N	11.292800	1	0.08975	N	0.695	0.17993	N	2.76	0.11515	T	-0.72	0.20358	N	0.035	0.01004	-0.9826	0.34398	T	0.022	0.09238	T	10	0.0039404035	0.00076	T	0.009604	0.25107	T	0.009	0.00846	0.089	0.00982	0.0920862733494	0.08535	0.06147214892283106	0.06087	0.00331702686819	0.00282	0.269650399685	0.06096	T	0.001133	0.00643	T	-0.731391	0.00023	T	-0.828917	0.01281	T	0.0247410375137172	0.01239	T	0.265773	0.04346	T	0.030193029	0.02641	0.03275993	0.02061	0.030193029	0.02641	0.03275993	0.02061	-2.871	0.08857	T	.	.	0.084	0.09917	B	.	.	-1.493683	0.00299	0.005	0.63471475747142148	0.07233	0.00188	0.01093	N	AEFDBI	0.018601	0.00576	N	-1.28876506168831	0.03810	0.1708486	-1.36190694484357	0.03667	0.17155	0.959833206551735	0.28451	0.718356	0.82227	0	0.59043	0.45803	0	0.570548	0.19454	0	0.604944	0.38103	0	.	.	3.38	-1.22	0.09005	-0.600000	0.05789	-1.339000	0.05677	-1.828000	0.00593	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2635:0.2204:0.5162:0.0	4.544	0.11473	721	0.55360	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1683.98	36	chr7	45083137	.	C	A	1683.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.56;DP=1255;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=-1.670e-01;SOR=0.690	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	20	0	1	0
chr7	45084206	45084206	C	0	exonic	NACAD	.	.	.	.	.	527	929	28	5	33	71	0.0200422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1471	2190.13	33	chr7	45084206	.	C	T,*	2190.13	.	AC=4,1;AF=0.118,0.029;AN=34;BaseQRankSum=1.42;DP=744;ExcessHet=0.0409;FS=1.942;InbreedingCoeff=0.1581;MLEAC=5,1;MLEAF=0.147,0.029;MQ=50.91;MQRankSum=1.53;QD=12.52;ReadPosRankSum=-2.863e+00;SOR=0.887	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:8,0,0:8:0:.:.:0,0,157,0,157,157	13	1	2	4
chr7	45084219	45084338	GAGAGTTCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAACGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAATCGTGGCTGCAGCCACAGGCTTTGGGGCTGAT	-	exonic	NACAD	.	nonframeshift deletion	NACAD:NM_001146334:exon2:c.1842_1961del:p.I625_T664del,	.	.	515	945	29	0	33	62	0.015112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0061	0	0	0	0.0005	0	0.0004	.	.	.	.	0.0013	0.0015	0.0012	0.0013	0.0048	0.0012	0.0012	0.0038	0.0035	0.0048	0.0017	0.0029	0.0030	0.0040	0.0016	0.0010	0.0018	0.0006	0.0033	0.0017	0.0029	0.0037	0.0160	0.0029	0.0027	0.0132	0.0121	0.0160	0	0.0057	0.0007	0.0025	0.0028	0	0.0011	0.0015	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2010.91	33	chr7	45084218	.	CGAGAGTTCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAACGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAATCGTGGCTGCAGCCACAGGCTTTGGGGCTGAT	C,*	2010.91	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=2.49;DP=975;ExcessHet=0.6776;FS=5.653;InbreedingCoeff=-0.0747;MLEAC=3,1;MLEAF=0.071,0.024;MQ=54.44;MQRankSum=-1.620e-01;QD=5.52;ReadPosRankSum=-2.189e+00;SOR=1.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:19,0,0:19:45:.:.:0,45,530,45,530,530	17	0	3	0
chr7	45084218	45084338	CGAGAGTTCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAACGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAATCGTGGCTGCAGCCACAGGCTTTGGGGCTGAT	0	exonic	NACAD	.	.	.	.	.	515	945	29	0	33	62	0.015112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2010.91	33	chr7	45084218	.	CGAGAGTTCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAACGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAATCGTGGCTGCAGCCACAGGCTTTGGGGCTGAT	C,*	2010.91	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=2.49;DP=975;ExcessHet=0.6776;FS=5.653;InbreedingCoeff=-0.0747;MLEAC=3,1;MLEAF=0.071,0.024;MQ=54.44;MQRankSum=-1.620e-01;QD=5.52;ReadPosRankSum=-2.189e+00;SOR=1.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:19,0,0:19:45:.:.:0,45,530,45,530,530	17	0	3	0
chr7	45084224	45084224	T	0	exonic	NACAD	.	.	.	.	.	705	684	53	24	56	157	0.0687543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	773.64	33	chr7	45084224	.	T	A,*	773.64	.	AC=3,4;AF=0.136,0.182;AN=22;BaseQRankSum=1.67;DP=1143;ExcessHet=0.4362;FS=6.611;InbreedingCoeff=0.0073;MLEAC=5,6;MLEAF=0.227,0.273;MQ=47.16;MQRankSum=-4.237e+00;QD=1.81;ReadPosRankSum=-1.513e+00;SOR=1.137	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,18,0:18:54:.:.:523,54,0,523,54,523	5	1	1	10
chr7	47303112	47303112	G	A	exonic	TNS3	.	nonsynonymous SNV	TNS3:NM_022748:exon22:c.C3295T:p.P1099S,	.	.	406	1082	32	2	0	36	0.0163636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.995	D	0.000	D	1.000	D	1.1	L	-3.75	D	1.119	D	0.965	D	0.57	5.124	32	5.66	2.662	9.250	17.237	0.603	.	0.0002	0.00559105	0.0041	0.0002	0.0007	0.0002	0	0.0002	0.0034	0.0279	0.0035252	545	154602	rs185351500	0.0018	0.0018	0.0010	0.0026	0.0266	0.0017	0.0017	0.0257	0.0253	8.961e-05	0.0002	0.0003	2.519e-05	0	0.0035	0.0001	0.0019	0.0266	0.0010	0.0010	0.0007	0.0014	0.0236	0.0009	0.0008	0.0201	0.0188	7.211e-05	0.0088	0.0008	0.0003	0	0	0.0034	0.0002	0.0009	0.0236	0.002	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.000019	0.62929	D	0.067253	0.999957	0.81001	D	3.255	0.89877	M	-3.75	0.99255	D	-6.19	0.90332	D	0.628	0.64223	1.119	0.99903	D	0.965	0.98873	D	10	0.011156976	0.00245	T	.	.	.	0.603	0.84345	.	.	0.855611554885	0.85421	0.5796115620834176	0.57890	.	.	0.673968195915	0.63403	T	0.556353	0.85070	D	-0.0311852	0.47243	T	0.203378	0.83311	D	0.126873841887387	0.15090	T	0.957104	0.83854	D	0.6748754	0.76694	0.68013376	0.81206	0.6748754	0.76695	0.68013376	0.81207	-10.997	0.79642	D	.	.	0.897	0.85441	P	.;.	.;.	4.398984	0.67958	25.2	0.99932033070223714	0.99439	0.96273	0.68337	D	AEFDBCI	0.922080	0.89653	D	0.754246687938273	0.83183	7.950563	0.777913695516357	0.88220	9.500883	0.999999999999638	0.74766	0.626454	0.40138	0	0.588066	0.40923	0	0.80507	0.99327	0	0.655142	0.61905	0	.	.	5.66	5.66	0.87293	9.375000	0.96582	11.521000	0.93046	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	17.237	0.86886	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1133.98	34	chr7	47303112	.	G	A	1133.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.317;DP=826;ExcessHet=0.0000;FS=2.455;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.12;ReadPosRankSum=0.029;SOR=0.479	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1281	20	0	1	0
chr7	47303192	47303192	G	A	exonic	TNS3	.	nonsynonymous SNV	TNS3:NM_022748:exon22:c.C3215T:p.T1072M,	.	.	415	1074	32	1	0	34	0.015582	.	.	722545	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.07	T	0.987	D	0.451	P	0.461	N	1.000	N	0.975	L	-3.07	D	0.180	D	0.746	D	0.309	2.966	15.89	5.66	2.662	3.561	15.243	0.270	.	0.0015	0.0061901	0.0055	0.0007	0.0016	0	0	0.0021	0.0048	0.0285	0.0047024	727	154602	rs181932240	0.0035	0.0035	0.0027	0.0043	0.0282	0.0034	0.0034	0.0272	0.0268	0.0004	0.0016	0.0018	0.0003	0.0001	0.0097	0.0020	0.0041	0.0282	0.0022	0.0022	0.0017	0.0027	0.0246	0.0020	0.0019	0.0211	0.0197	0.0004	0	0.0024	0.0017	0	9.407e-05	0.0034	0.0022	0.0019	0.0246	0.022	0.72154	D	0.01	0.65728	D	0.987	0.61912	D	0.451	0.46123	P	0.460844	0.12393	N	0.778290	1	0.08975	N	2.36	0.67893	M	-3.07	0.94210	D	-1.86	0.43524	N	0.209	0.23253	0.180	0.85565	D	0.746	0.91330	D	10	0.0038704276	0.00073	T	.	.	.	0.270	0.58507	.	.	0.67388624401	0.67112	0.29929116629727703	0.29842	.	.	0.456122934818	0.32780	T	0.114318	0.43205	T	-0.224378	0.17399	T	-0.0741295	0.65330	T	0.0345875563291198	0.02737	T	0.882012	0.60217	D	0.06315853	0.13269	0.1093954	0.26364	0.06315853	0.13268	0.1093954	0.26363	-4.834	0.34985	T	.	.	0.096	0.18539	B	.;.	.;.	3.491417	0.48808	22.7	0.99842830631907231	0.92316	0.59604	0.30961	D	AEFDBCI	0.175430	0.30260	N	0.293632324730734	0.55825	3.746639	0.329271446880366	0.57265	3.891775	0.999982189775115	0.51787	0.626454	0.40138	0	0.588066	0.40923	0	0.80507	0.99327	0	0.655142	0.61905	0	.	.	5.66	5.66	0.87293	4.417000	0.59573	4.222000	0.42599	0.676000	0.76740	0.979000	0.35152	0.992000	0.31684	0.962000	0.52141	0.0:0.0:1.0:0.0	15.243	0.73182	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2709.11	34	chr7	47303192	.	G	A	2709.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.12;DP=901;ExcessHet=0.1072;FS=8.785;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=-8.000e-03;SOR=0.357	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1281	19	0	2	0
chr7	47369121	47369121	G	A	exonic	TNS3	.	nonsynonymous SNV	TNS3:NM_022748:exon17:c.C1525T:p.P509S,	.	.	413	1080	28	1	0	30	0.0136986	.	.	711014	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.73	T	0.075	B	0.027	B	0.202	N	1.000	D	1.61	L	-2.78	D	-0.476	T	0.677	D	0.136	1.310	10.29	0.968	-0.029	0.494	7.135	0.268	0.0547789573645	0.0024	0.000798722	0.0028	0.0007	0.0040	0	0.0002	0.0031	0.0067	0.0041	0.0025032	387	154602	rs139781998	0.0023	0.0023	0.0021	0.0024	0.0208	0.0022	0.0022	0.0178	0.0166	0.0015	0.0033	0.0106	2.519e-05	9.425e-05	0.0208	0.0019	0.0034	0.0045	0.0018	0.0018	0.0019	0.0017	0.0031	0.0016	0.0016	0.0022	0.0021	0.0002	0	0.0016	0.0109	0	9.414e-05	0.0170	0.0025	0.0043	0.0031	0.521	0.16251	T	0.455	0.12776	T	0.075	0.24198	B	0.027	0.21085	B	0.202242	0.03328	N	1.566310	0.920884	0.28340	N	1.61	0.41143	L	-2.78	0.91589	D	-0.62	0.18248	N	0.144	0.14480	-0.4762	0.69505	T	0.677	0.88840	D	10	0.0055606365	0.00123	T	0.054779	0.65984	D	0.268	0.58254	.	.	0.33174030287	0.32783	0.18648739001522333	0.18566	.	.	0.299625277519	0.10345	T	0.055284	0.29963	T	-0.383113	0.02978	T	-0.324248	0.42107	T	0.00297999212123485	0.00031	T	0.865513	0.56452	D	0.031373337	0.02964	0.0399412	0.04203	0.031373337	0.02964	0.0399412	0.04203	-3.167	0.12082	T	.	.	0.07	0.06756	B	.;.	.;.	1.848904	0.23491	16.04	0.95257235972702403	0.26522	0.77706	0.38238	D	AEFDBI	0.237691	0.35994	N	-0.50973592861825	0.21764	1.157413	-0.414355782166396	0.24575	1.346534	0.999947086568722	0.47345	0.562547	0.31514	0	0.588066	0.40923	0	0.616094	0.41390	0	0.635551	0.53088	0	.	.	5.45	0.968	0.18799	0.515000	0.22507	1.729000	0.28315	0.676000	0.76740	0.782000	0.29497	0.978000	0.30204	0.982000	0.59238	0.0:0.3389:0.268:0.3931	7.135	0.24700	899	0.25060	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4080.98	83	chr7	47369121	.	G	A	4080.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.389;DP=1849;ExcessHet=0.0000;FS=3.375;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.00;ReadPosRankSum=0.940;SOR=0.511	GT:AD:DP:GQ:PL	0/0:85,0:85:99:0,120,1800	20	0	1	0
chr7	47792769	47792769	A	T	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon56:c.T8384A:p.L2795Q,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	1.0	D	0.982	D	0.236	N	0.996	N	0.695	N	1.95	T	-1.059	T	0.068	T	0.467	2.635	14.77	4.95	2.086	3.589	10.928	0.221	0.00491336055821	.	0.00119808	0.0002	0	0	0	0	0	0	0.0016	0.000207	32	154602	rs556945798	9.101e-05	9.098e-05	5.174e-05	0.0001	0.0014	7.825e-05	7.307e-05	0.0012	0.0011	0	0	0	0	0	0	8.994e-07	0.0002	0.0014	7.88e-05	7.874e-05	7.71e-05	8.057e-05	0.0023	4.494e-05	3.51e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0.0005	0.0023	0.106	0.29688	T	0.003	0.76473	D	1.0	0.90584	D	0.982	0.75477	D	0.236081	0.15815	N	0.458568	1	0.08975	N	0.975	0.24501	L	1.95	0.22474	T	-1.92	0.44657	N	0.575	0.59732	-1.0590	0.12007	T	0.068	0.27947	T	10	0.01765877	0.00378	T	0.004913	0.12349	T	0.221	0.51721	0.435	0.48664	0.701366418672	0.69878	0.32588275842523595	0.32501	0.500520315838	0.48470	0.35369426012	0.18464	T	0.055649	0.30067	T	-0.418823	0.01740	T	-0.404466	0.32865	T	0.179062444001799	0.19176	T	0.561144	0.19645	T	0.25338984	0.48360	0.18504822	0.41594	0.25338984	0.48360	0.18504822	0.41594	-3.412	0.15218	T	.	.	0.396	0.59325	A	.	.	3.771013	0.54161	23.5	0.98663675797424855	0.44372	0.52271	0.29092	D	ALL	0.117854	0.23070	N	0.027089237914585	0.43090	2.608767	-0.0418116948285734	0.37846	2.221563	0.99999999999574	0.74766	0.65861	0.49226	0	0.688826	0.66785	0	0.615948	0.41167	0	0.655445	0.63398	0	.	.	4.95	4.95	0.64894	3.590000	0.53726	7.735000	0.67855	0.756000	0.94297	0.134000	0.23411	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	10.928	0.46411	952	0.10565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	831.98	34	chr7	47792769	.	A	T	831.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.339;DP=740;ExcessHet=0.0000;FS=2.657;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.86;ReadPosRankSum=0.697;SOR=1.218	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1147	20	0	1	0
chr7	47821092	47821092	G	A	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon46:c.C6949T:p.R2317W,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	419	1088	14	1	0	16	0.00729927	.	.	722548	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.986	D	0.007	N	1.000	N	2.045	M	1.94	T	-0.995	T	0.087	T	0.532	2.874	15.58	1.05	-0.019	0.383	13.827	0.107	0.0350360262237	0.0015	0.00199681	0.0018	0.0010	0.0004	0.0003	0.0003	0.0025	0.0089	0.0012	0.0019081	295	154602	rs139293796	0.0020	0.0021	0.0021	0.0020	0.0112	0.0020	0.0020	0.0090	0.0082	0.0009	0.0013	0.0055	2.526e-05	0.0003	0.0112	0.0022	0.0020	0.0012	0.0018	0.0018	0.0019	0.0017	0.0025	0.0016	0.0015	0.0022	0.0021	0.0007	0	0.0015	0.0075	0.0002	0.0003	0.0034	0.0025	0.0028	0.0015	0.003	0.68238	D	0.001	0.83351	D	1.0	0.90584	D	0.986	0.76916	D	0.006778	0.31811	N	0.175773	1	0.08975	N	2.36	0.67893	M	1.94	0.22678	T	-5.19	0.83625	D	0.545	0.57177	-0.9950	0.31299	T	0.087	0.33634	T	10	0.012393147	0.00266	T	0.035036	0.56079	D	0.107	0.30369	.	.	0.745099471361	0.74281	0.5345255532974426	0.53377	0.497463811139	0.48245	0.279146969318	0.07374	T	0.529557	0.83695	D	-0.437267	0.01342	T	-0.399927	0.33392	T	0.0478573780622542	0.05117	T	0.713829	0.32570	T	0.23060572	0.45819	0.37620524	0.62748	0.23060572	0.45819	0.37620524	0.62747	-7.096	0.54732	T	0.7257097379071875	0.80711	0.163	0.36012	B	.	.	3.704734	0.52853	23.3	0.99729252329224871	0.82619	0.03367	0.08463	N	AEFI	0.069132	0.13670	N	-0.0249142248569835	0.40730	2.423826	-0.219562588434269	0.30835	1.739628	0.754834003598971	0.23417	0.554377	0.28877	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.27	1.05	0.19280	0.395000	0.20576	0.923000	0.22720	0.671000	0.69459	0.043000	0.21118	0.546000	0.25442	0.995000	0.73285	0.0:0.0:0.3124:0.6876	13.827	0.62852	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1162.98	42	chr7	47821092	.	G	A	1162.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.94;DP=784;ExcessHet=0.0000;FS=0.786;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=0.512;SOR=0.824	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1140	20	0	1	0
chr7	47829444	47829444	C	T	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.G6716A:p.C2239Y,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.738	P	0.103	B	0.024	N	1.000	N	0.895	L	2.22	T	-1.014	T	0.026	T	0.048	-2.070	0.006	-0.262	0.053	-0.599	4.608	0.010	0.0044892350538	.	.	0.0002	0	0	0	0	0	0.0011	0.0012	0.0001294	20	154602	rs766014822	6.998e-05	6.977e-05	3.686e-05	0.0001	0.0011	5.864e-05	5.473e-05	0.0009	0.0009	3.018e-05	0	0	0	0	0	3.601e-06	1.661e-05	0.0011	3.941e-05	3.937e-05	2.57e-05	5.374e-05	0.0012	1.715e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.045	0.40832	D	0.028	0.54934	D	0.738	0.42905	P	0.103	0.30945	B	0.023826	0.01600	N	2.145940	1	0.08975	N	0	0.06538	N	2.22	0.18248	T	-1.29	0.32387	N	0.048	0.01999	-1.0144	0.25529	T	0.026	0.11176	T	10	0.015786082	0.00331	T	0.004489	0.11031	T	0.010	0.01040	0.282	0.23801	0.698418770453	0.69581	0.1948917559509391	0.19407	0.158857962076	0.17927	0.35741764307	0.19009	T	0.018597	0.14967	T	-0.68678	0.00044	T	-0.809729	0.01671	T	0.054035204230495	0.06195	T	0.335866	0.07168	T	0.07078964	0.15623	0.10514722	0.25270	0.07078964	0.15622	0.10514722	0.25269	-3.427	0.15422	T	0.16328564489810982	0.20110	0.076	0.05845	B	.	.	-0.462775	0.01989	0.174	0.75174537500403749	0.10973	0.01859	0.05742	N	AEFDBI	0.044972	0.07300	N	-0.915232914438942	0.10486	0.5012868	-1.03957763837445	0.08925	0.4412999	0.999941351941964	0.47345	0.516011	0.20929	0	0.59043	0.45803	0	0.573078	0.19857	0	0.586402	0.36253	0	.	.	4.09	-0.262	0.12318	-0.658000	0.05429	-2.167000	0.04114	-1.618000	0.00872	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.3952:0.3818:0.223	4.608	0.11779	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	832.98	35	chr7	47829444	.	C	T	832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.524e+00;DP=1137;ExcessHet=0.0000;FS=1.939;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.92;ReadPosRankSum=1.05;SOR=0.447	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1250	20	0	1	0
chr7	47829595	47829595	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6565G:p.L2189V,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.067	B	0.015	B	0.801	N	1.000	N	1.43	L	2.05	T	-0.987	T	0.034	T	0.157	1.299	10.25	-2.48	-0.557	-1.200	0.856	0.025	0.00127835857952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	0.06381	T	0.161	0.31326	T	0.067	0.23653	B	0.015	0.17295	B	0.800789	0.06768	N	1.139820	1	0.08975	N	1.32	0.33002	L	2.05	0.20664	T	-0.76	0.21215	N	0.077	0.05162	-0.9874	0.33249	T	0.034	0.14683	T	10	0.047335982	0.04037	T	0.001278	0.01759	T	0.025	0.05312	0.437	0.48993	0.0884992946249	0.08302	0.058640025517176016	0.05805	0.097110365055	0.10970	0.267502307892	0.05817	T	0.053076	0.29342	T	-0.296889	0.08955	T	-0.664237	0.07983	T	0.0382535461650476	0.03377	T	0.442656	0.12286	T	0.04340317	0.06758	0.03085182	0.01594	0.04340317	0.06758	0.03085182	0.01594	-2.84	0.08557	T	0.18439717788962887	0.23915	0.085	0.10352	B	.	.	0.333476	0.07071	3.643	0.89928721472256545	0.19227	0.00981	0.03737	N	AEFDBI	0.033246	0.03905	N	-0.949154353178447	0.09711	0.4608325	-1.01287491586493	0.09502	0.4730853	0.999972890798845	0.50053	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	-2.48	0.06052	-0.913000	0.04150	-0.189000	0.11056	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.901000	0.43729	0.4609:0.1887:0.1891:0.1613	0.856	0.01107	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3214	2133.35	105	chr7	47829595	.	G	C,A	2133.35	.	AC=7,2;AF=0.250,0.071;AN=28;BaseQRankSum=-2.833e+00;DP=2292;ExcessHet=4.7172;FS=204.617;InbreedingCoeff=-0.4243;MLEAC=9,3;MLEAF=0.321,0.107;MQ=60.00;MQRankSum=0.00;QD=2.36;ReadPosRankSum=0.440;SOR=11.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:59,41,0:100:99:.:.:499,0,1454,675,1570,2245	5	0	7	7
chr7	47829595	47829595	G	A	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6565T:p.L2189F,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.325	B	0.037	B	0.801	N	1.000	N	1.43	L	1.99	T	-1.014	T	0.032	T	0.13	3.478	17.80	-2.48	-0.557	-1.200	0.856	0.011	0.00242358400914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.156	0.31833	T	0.325	0.33132	B	0.037	0.23121	B	0.800789	0.06768	N	1.139820	1	0.08975	N	1.67	0.42885	L	1.99	0.21666	T	-1.12	0.28906	N	0.071	0.04426	-1.0143	0.25561	T	0.032	0.13635	T	10	0.06819993	0.09611	T	0.002424	0.04757	T	0.011	0.01250	0.462	0.53079	0.0806252709748	0.07271	0.07619938893513355	0.07555	0.119333337301	0.13438	0.287016183138	0.08490	T	0.119498	0.44106	T	-0.313121	0.07477	T	-0.687553	0.06531	T	0.07061240769398	0.08737	T	0.506949	0.16072	T	0.03793613	0.04957	0.059033968	0.11012	0.03793613	0.04957	0.059033968	0.11011	-5.256	0.39506	T	0.3493390781858841	0.44665	0.093	0.14108	B	.	.	0.478457	0.08477	5.239	0.99599511188636891	0.74101	0.00455	0.02200	N	AEFDBI	0.023300	0.01279	N	-0.856956854539942	0.11880	0.5757883	-0.946628518479765	0.11002	0.5577856	0.999972890798845	0.50053	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	-2.48	0.06052	-0.913000	0.04150	-0.189000	0.11056	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.901000	0.43729	0.4609:0.1887:0.1891:0.1613	0.856	0.01107	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3214	2133.35	105	chr7	47829595	.	G	C,A	2133.35	.	AC=7,2;AF=0.250,0.071;AN=28;BaseQRankSum=-2.833e+00;DP=2292;ExcessHet=4.7172;FS=204.617;InbreedingCoeff=-0.4243;MLEAC=9,3;MLEAF=0.321,0.107;MQ=60.00;MQRankSum=0.00;QD=2.36;ReadPosRankSum=0.440;SOR=11.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:59,41,0:100:99:.:.:499,0,1454,675,1570,2245	5	0	7	7
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.995	D	0.547	P	0.460	N	1.000	N	1.39	L	2.15	T	-1.059	T	0.048	T	0.465	2.843	15.47	1.54	0.218	0.068	6.370	0.080	0.00311672116924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.184	0.29056	T	0.995	0.67487	D	0.547	0.49095	P	0.460342	0.12399	N	0.747174	0.999995	0.08975	N	1.67	0.42885	L	2.15	0.19311	T	-2.36	0.52128	N	0.296	0.33469	-1.0591	0.11981	T	0.048	0.20672	T	10	0.36171162	0.52784	T	0.003117	0.06786	T	0.080	0.23350	0.552	0.66856	0.273070737957	0.26916	0.2536045200721503	0.25274	0.410098164805	0.41806	0.397005200386	0.24651	T	0.34704	0.71522	T	-0.171564	0.25000	T	-0.484216	0.23999	T	0.452246865480397	0.30879	T	0.463454	0.13490	T	0.08204342	0.18882	0.115264766	0.27824	0.08204342	0.18881	0.115264766	0.27823	-7.376	0.56735	T	0.21312292306990016	0.28611	0.462	0.62816	A	.	.	2.025831	0.25746	16.87	0.98535746284117109	0.42657	0.03107	0.08041	N	AEFDBI	0.085021	0.17234	N	-0.32621816442702	0.28156	1.55065	-0.474339133563733	0.22864	1.243968	0.99995617926297	0.48110	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	1.54	0.22290	0.128000	0.15636	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.003000	0.18671	0.870000	0.41412	0.3084:0.0:0.6916:0.0	6.370	0.20682	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	5979.44	105	chr7	47829596	.	G	C,A	5979.44	.	AC=17,3;AF=0.425,0.075;AN=40;BaseQRankSum=-3.700e-02;DP=2719;ExcessHet=43.6797;FS=321.470;InbreedingCoeff=-0.9530;MLEAC=18,3;MLEAF=0.450,0.075;MQ=60.00;MQRankSum=0.00;QD=2.79;ReadPosRankSum=-7.300e-02;SOR=13.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:59,36,5:100:99:.:.:395,0,1561,331,1527,1952	0	0	17	1
chr7	47846979	47846979	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon32:c.C5053G:p.H1685D,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	412	1106	4	0	0	4	0.00180505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.538	P	0.077	B	0.644	N	1.000	N	0.55	N	2.21	T	-1.004	T	0.021	T	0.435	0.344	5.867	1.81	0.489	0.401	2.464	0.125	0.00193187805436	.	.	8.243e-06	0	0	0	0	1.5e-05	0	0	3.84e-05	1	26028	rs747708653	1.095e-05	1.094e-05	4.084e-06	1.788e-05	0.0001	6.48e-06	5.25e-06	8.006e-05	6.243e-05	0	0	0	0	0	0	2.698e-06	1.656e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	0.20381	T	0.198	0.27767	T	0.538	0.37867	P	0.077	0.28532	B	0.644450	0.05886	N	1.207260	1	0.08975	N	1.61	0.41143	L	2.21	0.18414	T	-2.13	0.48354	N	0.274	0.31027	-1.0039	0.28785	T	0.021	0.09101	T	10	0.14364973	0.27270	T	0.001932	0.03430	T	0.125	0.34456	0.624	0.75916	0.611395899168	0.60827	0.41816229511145075	0.41732	0.133413663276	0.15022	0.341461628675	0.16657	T	0.11903	0.44027	T	-0.346825	0.04929	T	-0.499298	0.22421	T	0.0859614089131355	0.10731	T	0.350365	0.07800	T	0.11474522	0.27086	0.106389634	0.25594	0.11474522	0.27085	0.106389634	0.25593	-7.138	0.55035	T	0.2171034432565706	0.29215	0.144	0.31633	B	.	.	1.076392	0.14590	11.15	0.96285714554836221	0.29295	0.04224	0.09741	N	AEFGBHCI	0.038745	0.05529	N	-0.645575033110178	0.17589	0.9063865	-0.654497723652198	0.18102	0.9656079	0.999931568938745	0.46732	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.447301	0.06993	0	.	.	5.07	1.81	0.24139	0.646000	0.24486	1.599000	0.27573	0.676000	0.76740	0.005000	0.17040	0.004000	0.18990	0.946000	0.48989	0.1046:0.3203:0.3697:0.2054	2.464	0.04272	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1895.98	42	chr7	47846979	.	G	C	1895.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.060e+00;DP=870;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=-1.408e+00;SOR=0.673	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1196	20	0	1	0
chr7	47853147	47853147	A	G	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon31:c.T4940C:p.I1647T,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	YES	420	1065	36	1	0	38	0.0175277	.	.	700108	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.172	B	0.025	B	0.924	N	1.000	N	0.695	N	1.9	T	-1.006	T	0.042	T	0.113	0.671	7.591	2.69	0.267	0.765	6.861	0.033	0.00307578698085	0.0024	0.00119808	0.0028	0.0006	0.0048	0.0001	0.0003	0.0031	0.0044	0.0038	0.0026132	404	154602	rs150396842	0.0025	0.0025	0.0025	0.0026	0.0269	0.0025	0.0024	0.0234	0.0221	0.0006	0.0032	0.0006	0	0.0002	0.0269	0.0025	0.0039	0.0039	0.0019	0.0019	0.0020	0.0017	0.0029	0.0017	0.0016	0.0026	0.0025	0.0005	0	0.0022	0.0009	0	9.413e-05	0.0374	0.0029	0.0028	0.0023	0.132	0.26519	T	0.13	0.34716	T	0.172	0.28767	B	0.025	0.20508	B	0.923955	0.07493	N	1.050930	1	0.08975	N	0.895	0.22405	L	1.9	0.23486	T	-2.15	0.48687	N	0.153	0.15749	-1.0059	0.28186	T	0.042	0.17910	T	10	0.0092950165	0.00210	T	0.003076	0.06636	T	0.033	0.08068	.	.	0.0954503805726	0.09146	0.2955123806695108	0.29464	0.12647757418	0.14255	0.317104578018	0.12981	T	0.060975	0.31530	T	-0.603463	0.00139	T	-0.637275	0.09869	T	0.00694634325530632	0.00079	T	0.363264	0.08416	T	0.08808688	0.20535	0.11958772	0.28864	0.08808688	0.20535	0.11958772	0.28863	-10.882	0.79007	D	0.19642316934644846	0.25944	0.365	0.57542	A	.	.	1.026868	0.14066	10.64	0.75558764966743985	0.11122	0.03166	0.08140	N	AEFI	0.043929	0.07004	N	-0.821283035922916	0.12767	0.6244539	-0.837001255752562	0.13600	0.7064044	0.244068471712208	0.18605	0.533608	0.22052	0	0.615948	0.52940	0	0.615948	0.41167	0	0.638833	0.57524	0	.	.	5.14	2.69	0.30923	0.979000	0.29098	1.846000	0.29223	0.756000	0.94297	0.001000	0.13787	0.001000	0.17328	0.613000	0.31716	0.8093:0.0:0.1907:0.0	6.861	0.23249	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	811.98	34	chr7	47853147	.	A	G	811.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=761;ExcessHet=0.0000;FS=2.001;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-9.810e-01;SOR=0.919	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1050	20	0	1	0
chr7	47915452	47915452	A	G	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon8:c.T1208C:p.L403P,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	430	1070	20	2	0	24	0.0110906	.	.	700117	not_provided|PKD1L1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.28	T	0.659	P	0.049	B	0.000	U	1.000	N	0	N	1.65	T	-1.040	T	0.023	T	0.192	-0.906	0.426	0.633	0.511	0.561	.	0.162	.	0.0105	0.00479233	0.0075	0.0095	0.0057	0	0.0085	0.0095	0.0088	0.0026	0.0073738	1140	154602	rs146750610	0.0084	0.0084	0.0084	0.0083	0.0130	0.0082	0.0081	0.0103	0.0097	0.0094	0.0065	0.0054	0	0.0076	0.0130	0.0100	0.0084	0.0026	0.0092	0.0092	0.0098	0.0086	0.0112	0.0088	0.0087	0.0105	0.0102	0.0088	0	0.0088	0.0066	0	0.0079	0.0170	0.0112	0.0123	0.0015	0.325	0.13349	T	0.345	0.17750	T	0.659	0.40886	P	0.049	0.25116	B	0.000038	0.00348	U	54.428400	1	0.08975	N	-0.345	0.03330	N	1.65	0.27650	T	-1.03	0.27052	N	0.412	0.45237	-1.0398	0.17374	T	0.023	0.09787	T	9	0.0037185848	0.00069	T	.	.	.	0.162	0.41843	.	.	0.305730143919	0.30178	0.20323975704259653	0.20240	0.15169249651	0.17120	0.442275464535	0.30888	T	0.020967	0.16414	T	-0.596252	0.00154	T	-0.622429	0.10995	T	0.00942255087255087	0.00121	T	0.327867	0.06820	T	0.55444974	0.70202	0.3174846	0.57723	0.55444974	0.70204	0.3174846	0.57722	-5.172	0.38656	T	.	.	0.132	0.28464	B	.	.	0.650242	0.10185	6.928	0.79395962093093431	0.12722	0.00522	0.02430	N	AEFDBI	0.058155	0.10890	N	-0.966124456187936	0.09335	0.4413434	-1.09479251839727	0.07801	0.3809623	0.989391670831821	0.31812	0.569682	0.32691	0	0.563428	0.19063	0	0.578056	0.29568	0	0.567339	0.31927	0	.	.	0.633	0.633	0.16883	0.347000	0.19760	-0.905000	0.06976	0.562000	0.28470	0.237000	0.24716	0.000000	0.08366	0.232000	0.22788	.	.	.	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	710.98	34	chr7	47915452	.	A	G	710.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.590e-01;DP=737;ExcessHet=0.0000;FS=1.150;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.13;ReadPosRankSum=-1.631e+00;SOR=0.504	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1079	20	0	1	0
chr7	48103309	48103309	A	G	exonic	UPP1	.	nonsynonymous SNV	UPP1:NM_003364:exon6:c.A334G:p.I112V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.086	B	0.052	B	0.006	N	1.000	D	0.845	L	-2.14	D	-0.815	T	0.370	T	0.147	0.709	7.777	-4.68	-0.843	1.044	14.599	0.137	0.0162703173878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.068e-05	0.0005	4.533e-05	3.607e-05	6.545e-05	3.187e-05	2.855e-05	3.432e-05	3.064e-05	6.545e-05	0	0	0	0	0	4.503e-05	0.0001	1.194e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.06669	T	0.844	0.03652	T	0.005	0.12996	B	0.013	0.16460	B	0.006375	0.32080	N	0.369553	0.659061	0.48481	D	0.65	0.16133	N	-2.14	0.86415	D	-0.25	0.11008	N	0.335	0.37613	-0.8153	0.54226	T	0.370	0.72932	T	10	0.17066589	0.31743	T	0.01627	0.37444	T	0.137	0.36984	0.393	0.41770	0.494366844524	0.49069	0.6359250264121555	0.63526	0.119767800777	0.13491	0.439313769341	0.30483	T	0.150536	0.55493	T	-0.0746563	0.40579	T	-0.345015	0.39777	T	0.0481831632055793	0.05176	T	0.90391	0.67021	D	0.036912184	0.04632	0.047135282	0.06722	0.036912184	0.04631	0.047135282	0.06722	-7.212	0.55568	T	.	.	0.115	0.22933	B	.;.;.;.	.;.;.;.	1.228969	0.16235	12.41	0.69032023839716439	0.08843	0.30303	0.24048	N	AEFDGBCI	0.037360	0.05126	N	-1.18467389851375	0.05232	0.2380039	-1.17438792066289	0.06340	0.3048925	0.99999892264264	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.43	-4.68	0.03070	1.426000	0.34478	0.250000	0.16416	-0.576000	0.04747	0.702000	0.28645	0.000000	0.08366	0.986000	0.61781	0.426:0.0:0.574:0.0	14.599	0.68020	804	0.43891	Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2368	964.53	38	chr7	48103309	.	A	G	964.53	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.089e+00;DP=1700;ExcessHet=4.7172;FS=113.804;InbreedingCoeff=-0.3130;MLEAC=10;MLEAF=0.263;MQ=59.98;MQRankSum=0.00;QD=1.11;ReadPosRankSum=0.721;SOR=10.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,14:89:50:0|1:48103308_C_G:50,0,2460:48103308	10	0	9	2
chr7	48107077	48107077	A	G	exonic	UPP1	.	nonsynonymous SNV	UPP1:NM_001287429:exon4:c.A230G:p.Y77C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.505	H	0.53	T	0.149	D	0.462	T	0.986	4.713	26.2	5.9	2.251	9.098	15.513	0.804	0.0490220226188	.	.	8.263e-06	0	8.669e-05	0	0	0	0	0	6.5e-06	1	154602	.	1.576e-05	1.573e-05	1.091e-05	2.066e-05	0.0002	1.049e-05	8.77e-06	5.401e-05	4.046e-05	2.993e-05	6.709e-05	0	0	1.876e-05	0.0002	7.196e-06	0	0.0001	6.572e-06	6.567e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.89	0.83701	M	0.53	0.55090	T	-8.92	0.97954	D	0.988	0.99611	0.149	0.85035	D	0.462	0.79156	T	10	0.9355799	0.92889	D	0.049022	0.63632	D	0.804	0.93621	0.739	0.87147	0.892661941767	0.89160	0.959962342279998	0.95982	0.623551032226	0.56587	0.774495899677	0.78099	T	0.815282	0.95426	D	0.197953	0.73701	D	0.249223	0.85585	D	0.974130868911743	0.70382	D	0.972103	0.89869	D	0.9575878	0.97036	0.9327763	0.97285	0.9575878	0.97037	0.9327763	0.97285	-14.239	0.93807	D	.	.	0.764	0.77315	P	.;.	.;.	5.240330	0.87974	29.4	0.99840800455528811	0.92143	0.97108	0.72736	D	AEFDGBHCI	0.956954	0.97584	D	1.00617185178452	0.95930	14.11684	0.946861448264936	0.97309	15.91555	0.999999999999999	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.9	5.9	0.94952	9.170000	0.93942	11.037000	0.85129	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	15.513	0.75536	809	0.43032	Nucleoside phosphorylase domain;Nucleoside phosphorylase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1291.98	34	chr7	48107077	.	A	G	1291.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.770e-01;DP=810;ExcessHet=0.0000;FS=2.875;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=-6.690e-01;SOR=0.426	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr7	48248354	48248354	G	A	exonic	ABCA13	.	nonsynonymous SNV	ABCA13:NM_152701:exon14:c.G1775A:p.C592Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.993	D	0.000	D	1.000	D	1.04	L	-2.47	D	0.510	D	0.701	D	0.426	3.216	16.77	4.28	2.069	2.006	12.570	0.553	0.0405090763225	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000029	0.55875	D	0.000000	0.999475	0.21134	N	.	.	.	-2.47	0.88997	D	-3.74	0.71042	D	0.199	0.21969	0.510	0.90681	D	0.701	0.89694	D	10	0.5629109	0.64889	D	0.040509	0.59414	D	0.553	0.81544	0.763	0.89133	0.536194329819	0.53270	0.20827378623272777	0.20743	0.0592235808288	0.06579	0.391275495291	0.23849	T	.	.	.	0.0806119	0.62112	D	-0.121983	0.61640	T	0.978814899921417	0.72514	D	0.508649	0.16166	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.745	0.74850	P	.	.	2.925209	0.38847	20.8	0.9788165720621913	0.36607	0.48633	0.28251	N	AEFBI	0.091991	0.18628	N	0.2128527479661	0.51821	3.36052	0.104618581386167	0.44784	2.753543	0.938660646895407	0.27353	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.631631	0.49550	0	.	.	4.28	4.28	0.50183	2.312000	0.43386	9.422000	0.80760	0.676000	0.76740	0.983000	0.35670	1.000000	0.68203	0.301000	0.24523	0.0:0.0:1.0:0.0	12.570	0.55679	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	917.98	36	chr7	48248354	.	G	A	917.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.855e+00;DP=870;ExcessHet=0.0000;FS=1.494;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.85;ReadPosRankSum=-1.440e-01;SOR=0.702	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1243	20	0	1	0
chr7	48272603	48272603	G	C	exonic	ABCA13	.	nonsynonymous SNV	ABCA13:NM_152701:exon17:c.G2937C:p.Q979H,	.	.	437	1073	11	1	0	13	0.00602131	.	.	722562	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.98	D	0.635	P	0.147	N	1.000	N	1.995	M	-2.28	D	-0.200	T	0.607	D	0.354	0.814	8.274	1.84	0.124	0.549	8.844	0.292	.	0.0015	0.00439297	0.0049	0.0001	0.0019	0.0001	0.0006	0.0023	0.0034	0.0243	0.0041526	642	154602	rs200327749	0.0027	0.0027	0.0020	0.0035	0.0246	0.0027	0.0026	0.0237	0.0233	0.0003	0.0016	0.0014	7.563e-05	0.0006	0.0068	0.0014	0.0025	0.0246	0.0020	0.0020	0.0017	0.0024	0.0224	0.0018	0.0018	0.0190	0.0177	0.0001	0	0.0008	0.0009	0	0.0005	0.0034	0.0024	0.0028	0.0224	0.002	0.72154	D	0.006	0.70582	D	.	.	.	.	.	.	0.147420	0.18081	N	0.462575	1	0.08975	N	.	.	.	-2.28	0.87512	D	-1.41	0.34795	N	0.113	0.10056	-0.2004	0.77661	T	0.607	0.86064	D	10	0.004913777	0.00105	T	.	.	.	0.292	0.61157	0.199	0.11247	0.516381326315	0.51281	0.2571811469139952	0.25632	0.0278542002052	0.02857	0.210208445787	0.00820	T	.	.	.	-0.325212	0.06479	T	-0.221667	0.52576	T	0.0118497070820996	0.00184	T	0.324568	0.06628	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.34361	B	.	.	1.065849	0.14476	11.05	0.97054069848551128	0.32163	0.16381	0.19362	N	AEFBI	0.061589	0.11784	N	-0.524323010757289	0.21295	1.129107	-0.701649602738571	0.16920	0.8973089	2.05257292146415E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.67	1.84	0.24348	0.592000	0.23685	0.189000	0.15722	-0.633000	0.04490	0.001000	0.13787	0.000000	0.08366	0.010000	0.09038	0.2951:0.0:0.7049:0.0	8.844	0.34321	701	0.57775	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	1883.98	85	chr7	48272603	.	G	C	1883.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.76;DP=1406;ExcessHet=0.0000;FS=2.929;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.73;ReadPosRankSum=-1.080e+00;SOR=0.483	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1116	20	0	1	0
chr7	48276522	48276522	C	T	exonic	ABCA13	.	nonsynonymous SNV	ABCA13:NM_152701:exon17:c.C6856T:p.L2286F,	.	.	2	223	1	0	0	1	0.00223714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	B	0.019	B	0.736	N	1.000	N	0.97	L	-2.33	D	-0.772	T	0.386	T	0.144	-0.267	2.719	-0.669	0.113	-0.058	2.405	0.111	0.0365403737598	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1230733061	2.055e-06	2.736e-06	2.727e-06	1.377e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.38863	T	0.13	0.34716	T	.	.	.	.	.	.	0.736143	0.09814	N	0.837651	1	0.08975	N	.	.	.	-2.33	0.87910	D	-1.37	0.33998	N	0.072	0.04547	-0.7716	0.56770	T	0.386	0.74121	T	9	0.061772346	0.07797	T	0.03654	0.57053	D	0.111	0.31313	0.267	0.21418	0.359357374593	0.35551	0.028077720854135742	0.02757	0.0273910062881	0.02796	0.238940030336	0.02695	T	.	.	.	-0.104729	0.35639	T	-0.388213	0.34762	T	0.015617360204909	0.00357	T	0.416058	0.10924	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.15564	B	.	.	0.885074	0.12583	9.111	0.85746424376609587	0.16086	0.03390	0.08499	N	AEFDGBI	0.048630	0.08319	N	-1.21249140068297	0.04817	0.2182425	-1.24404022694325	0.05220	0.2481935	0.00253585026236684	0.09511	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.77	-0.669	0.10815	-0.042000	0.12016	-0.323000	0.09949	-0.249000	0.07183	0.000000	0.06391	0.000000	0.08366	0.906000	0.44173	0.1289:0.4915:0.1267:0.2528	2.405	0.04140	683	0.59664	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	873.98	37	chr7	48276522	.	C	T	873.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.657;DP=896;ExcessHet=0.0000;FS=0.904;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=0.249;SOR=0.866	GT:AD:DP:GQ:PL	0/1:39,33:72:99:888,0,1062	20	0	1	0
chr7	48338456	48338456	G	T	splicing	ABCA13	NM_152701:exon29:c.10204+1G>T	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.829	12.08	5.43	2.527	5.013	14.744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175163	0.71597	D	0.0138328	0.71230	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.193351	0.87108	29.1	0.9881633628266856	0.46704	0.92828	0.56645	D	AEFBI	.	.	.	0.916219387772681	0.92530	11.47691	0.707411419357092	0.82942	7.89355	0.240200936391204	0.18562	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.966976	0.69657	5.43	5.43	0.79006	4.884000	0.62827	11.576000	0.93313	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.693000	0.33928	0.0:0.0:1.0:0.0	14.744	0.69095	660	0.61921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	748.98	35	chr7	48338456	.	G	T	748.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.033e+00;DP=776;ExcessHet=0.0000;FS=1.791;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.02;ReadPosRankSum=0.602;SOR=0.780	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1123	20	0	1	0
chr7	48587169	48587169	A	G	exonic	ABCA13	.	nonsynonymous SNV	ABCA13:NM_152701:exon57:c.A14521G:p.I4841V,	.	.	417	1098	7	0	0	7	0.00317749	.	.	722567	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.37	T	0.002	B	0.002	B	0.013	N	1.000	N	1.08	L	1.08	T	-1.036	T	0.073	T	0.191	-2.491	0.003	3.87	0.715	2.067	7.876	0.060	0.00242683891609	0.0023	0.00139776	0.0034	0.0006	0.0012	0.0001	0.0007	0.0043	0.0049	0.0057	0.0028913	447	154602	rs75519473	0.0031	0.0031	0.0030	0.0031	0.0053	0.0030	0.0030	0.0049	0.0048	0.0004	0.0009	0.0043	2.523e-05	0.0006	0.0017	0.0033	0.0027	0.0053	0.0020	0.0020	0.0020	0.0019	0.0037	0.0018	0.0017	0.0027	0.0025	0.0007	0	0.0010	0.0066	0.0002	0.0007	0.0034	0.0030	0.0019	0.0037	1.0	0.09155	T	1.0	0.07543	T	.	.	.	.	.	.	0.012934	0.29007	N	0.163809	1	0.08975	N	.	.	.	1.08	0.39401	T	-0.28	0.11547	N	0.151	0.15469	-1.0363	0.18450	T	0.073	0.29515	T	10	0.0100777745	0.00226	T	0.002427	0.04785	T	0.060	0.17295	.	.	0.286081765059	0.28222	0.11503681837545145	0.11431	0.0237141939461	0.02403	0.272936403751	0.06527	T	.	.	.	-0.549141	0.00295	T	-0.560213	0.16357	T	0.00852210004074327	0.00104	T	0.486851	0.14885	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.06114	B	.;.	.;.	1.471160	0.18953	14.01	0.21403867538941787	0.00814	0.01568	0.05122	N	AEFBI	0.025485	0.01752	N	-0.749825139040131	0.14638	0.7308592	-0.669679199437181	0.17720	0.9435058	9.5747396805198E-5	0.04910	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.71	3.87	0.43823	2.534000	0.45334	4.213000	0.42544	-0.137000	0.12594	0.996000	0.39380	1.000000	0.68203	0.085000	0.17524	0.0853:0.3073:0.6074:0.0	7.876	0.28755	806	0.43582	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	541.98	56	chr7	48587169	.	A	G	541.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.172e+00;DP=755;ExcessHet=0.0000;FS=3.852;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.68;ReadPosRankSum=0.181;SOR=1.329	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1342	20	0	1	0
chr7	48925892	48925892	G	A	exonic	CDC14C	.	nonsynonymous SNV	CDC14C:NM_152627:exon1:c.G1220A:p.R407Q,	.	.	467	1051	4	0	0	4	0.00189934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0004	0.0002	0.0007	0	7.587e-05	0.0014	0.0064	0.0001537	4	26028	rs761855097	0.0005	0.0013	0.0003	0.0007	0.0039	0.0005	0.0005	0.0035	0.0033	0.0014	0.0003	0.0010	0.0001	0	0	2.362e-05	0.0004	0.0039	0.0008	0.0011	0.0005	0.0010	0.0114	0.0007	0.0006	0.0090	0.0081	0.0011	0	0.0003	0.0014	0.0006	0	0	8.821e-05	0	0.0114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0118587315	0.00257	T	.	.	.	.	.	.	.	.	.	0.3164583857378574	0.31558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79652	0.44001	T	0.06481028	0.13787	0.08490264	0.19565	0.06481028	0.13786	0.08490264	0.19565	-4.394	0.29475	T	.	.	0.077	0.06617	B	.;.	.;.	2.583314	0.33495	19.36	0.69887092033886955	0.09116	0.04172	0.09668	N	AEFDGI	.	.	.	.	.	.	.	.	.	4.44322398768854E-5	0.03989	0.06567	0.01388	0	0.063388	0.01293	0	0.091372	0.02933	0	0.057018	0.00518	0	0.102069	0.22515	0.395	-0.789	0.10383	0.000000	0.12910	5.560000	0.48915	-0.810000	0.03076	0.966000	0.33990	1.000000	0.68203	0.002000	0.04165	.	.	.	944	0.12746	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	133.98	44	chr7	48925892	.	G	A	133.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=817;ExcessHet=0.0000;FS=1.906;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=42.24;MQRankSum=-1.992e+00;QD=5.36;ReadPosRankSum=-9.600e-02;SOR=1.282	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	20	0	1	0
chr7	50368103	50368103	C	G	exonic	IKZF1	.	nonsynonymous SNV	IKZF1:NM_001291845:exon4:c.C258G:p.C86W,	Immunodeficiency, common variable, 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.992	D	0.668	P	.	.	1.000	N	.	.	.	.	-1.018	T	0.112	T	0.137	-0.026	3.882	3.1	0.968	0.109	5.968	0.049	0.00633516232254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.992	0.64738	D	0.668	0.53048	P	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-3.55	0.68764	D	0.367	0.40864	-1.0175	0.24528	T	0.112	0.40168	T	7	0.22200659	0.38941	T	0.006335	0.16639	T	0.049	0.13647	0.296	0.26041	0.134007934775	0.12933	.	.	.	.	.	.	.	0.208199	0.56807	T	-0.197415	0.21179	T	-0.521349	0.20158	T	0.298957865891781	0.24961	T	0.225777	0.02969	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.807	0.77631	P	.	.	0.166192	0.05559	2.017	0.58119396721632754	0.05921	0.02436	0.06868	N	AEFGBIJ	0.155410	0.28061	N	-0.424791676120027	0.24603	1.329603	-0.604950428239627	0.19365	1.038678	0.99998324477684	0.51787	0.51972	0.21558	0	0.522029	0.08744	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.23	3.1	0.34780	0.101000	0.15088	-0.142000	0.11507	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.0:0.1191:0.0:0.8809	5.968	0.18570	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	31.33	132	chr7	50368103	.	C	G	31.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-4.278e+00;DP=2389;ExcessHet=0.0000;FS=100.136;InbreedingCoeff=-0.0371;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=0.34;ReadPosRankSum=1.37;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:115,0:115:0:.:.:0,0,2257	19	0	1	1
chr7	50368104	50368104	C	G	exonic	IKZF1	.	nonsynonymous SNV	IKZF1:NM_001291845:exon4:c.C259G:p.L87V,	Immunodeficiency, common variable, 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.001	B	0.002	B	.	.	1.000	N	.	.	.	.	-1.000	T	0.055	T	0.083	0.343	5.860	-8.46	-2.174	-2.702	2.202	0.011	0.00431561606013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.5	0.15782	N	0.11	0.09631	-0.9997	0.30002	T	0.055	0.23375	T	7	0.043260276	0.03157	T	0.004316	0.10467	T	0.011	0.01250	0.272	0.22210	0.117191471859	0.11215	.	.	.	.	.	.	.	0.054479	0.29735	T	-0.291109	0.09525	T	-0.655934	0.08543	T	0.052731511290539	0.05973	T	0.256674	0.04023	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.47294	B	.	.	-1.396602	0.00363	0.007	0.40883805656463257	0.02914	0.00305	0.01619	N	AEFGBIJ	0.028154	0.02430	N	-1.474115124829	0.02034	0.08940394	-1.65084572243601	0.01371	0.06194978	0.999999998577604	0.74766	0.51972	0.21558	0	0.522029	0.08744	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.23	-8.46	0.00822	-2.694000	0.00900	-2.250000	0.03997	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.4857:0.2045:0.187:0.1228	2.202	0.03687	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3438	2447.51	210	chr7	50368104	.	C	G	2447.51	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-4.605e+00;DP=3458;ExcessHet=7.7275;FS=209.069;InbreedingCoeff=-0.4848;MLEAC=13;MLEAF=0.406;MQ=60.00;MQRankSum=0.00;QD=1.31;ReadPosRankSum=1.84;SOR=13.326	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:119,65:200:99:.:.:483,0,1759	5	0	11	5
chr7	50504057	50504057	C	A	exonic	DDC	.	nonsynonymous SNV	DDC:NM_001242888:exon5:c.G483T:p.M161I	Aromatic L-amino acid decarboxylase deficiency, Autosomal recessive	.	1	1520	1	0	0	1	0.000328839	.	.	711042	DDC-related_disorder|not_provided|Deficiency_of_aromatic-L-amino-acid_decarboxylase	.|MedGen:C3661900|MONDO:MONDO:0012084,MedGen:C1291564,OMIM:608643,Orphanet:35708	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.0	B	0.002	B	0.002	N	0.999	N	-1.15	N	1.52	T	-1.016	T	0.015	T	0.391	1.330	10.36	3.93	1.463	0.190	6.549	0.105	0.0111738252458	0.0018	0.000798722	0.0025	9.625e-05	0	0	0.0073	0.0037	0.0033	6.058e-05	0.0022186	343	154602	rs11575377	0.0017	0.0017	0.0016	0.0018	0.0018	0.0017	0.0016	0.0018	0.0017	0.0001	0.0002	0.0017	0	0.0060	0.0003	0.0018	0.0015	0	0.0022	0.0022	0.0023	0.0021	0.0034	0.0020	0.0019	0.0030	0.0029	9.625e-05	0	0.0004	0.0020	0	0.0077	0	0.0034	0.0014	0	0.009	0.57480	D	0.109	0.42976	T	0.0	0.02946	B	0.002	0.06944	B	0.001680	0.38326	N	0.252027	0.999744	0.21260	N	-1.185	0.00856	N	1.52	0.30669	T	1.13	0.03297	N	0.252	0.34552	-1.0163	0.24916	T	0.015	0.06042	T	10	0.009609818	0.00244	T	0.011174	0.28518	T	0.135	0.36572	0.107	0.01868	0.515659482774	0.51210	0.5331127277877139	0.53236	0.314831118833	0.33766	0.423758924007	0.28354	T	0.104164	0.41349	T	-0.507096	0.00521	T	-0.497599	0.22596	T	0.0776664128441218	0.09685	T	0.937106	0.76374	D	0.26929975	0.50002	0.18796098	0.42059	0.2508951	0.48094	0.17294744	0.39585	-5.439	0.46795	T	0.07789149179782047	0.03692	0.232	0.60215	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.568735	0.20088	14.58	0.9835693449590488	0.40608	0.56688	0.30182	D	AEFBI	0.372702	0.45825	N	0.0392534542171289	0.43650	2.653752	0.0770155434045908	0.43394	2.642142	0.967044531636928	0.28948	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.83	3.93	0.44666	0.482000	0.21985	1.617000	0.27666	-0.180000	0.10397	0.999000	0.42656	1.000000	0.68203	0.142000	0.20019	0.2567:0.6573:0.0:0.086	6.549	0.21622	673	0.60677	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	824.98	38	chr7	50504057	.	C	A	824.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.02;DP=802;ExcessHet=0.0000;FS=6.165;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.30;ReadPosRankSum=1.39;SOR=1.402	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1240	20	0	1	0
chr7	51026605	51026605	C	T	exonic	COBL	.	nonsynonymous SNV	COBL:NM_001346442:exon11:c.G3445A:p.E1149K	.	.	417	1101	3	1	0	5	0.00226552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.001	D	1.000	D	1.04	L	0.92	T	-0.748	T	0.182	T	0.797	3.599	18.32	5.0	2.294	4.341	15.018	0.281	0.0605398531829	7.7e-05	.	8.243e-05	0	0	0.0001	0.0002	0.0001	0	0	8.41e-05	13	154602	rs375921623	7.662e-05	7.73e-05	8.44e-05	6.876e-05	8.094e-05	6.491e-05	6.07e-05	6.696e-05	6.197e-05	0	2.236e-05	0	5.038e-05	0.0003	0	8.094e-05	4.968e-05	1.159e-05	8.539e-05	8.536e-05	6.422e-05	0.0001	0.0002	4.956e-05	3.961e-05	5.283e-05	2.834e-05	2.412e-05	0	0.0002	0	0	0.0004	0	7.349e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000778	0.41888	D	0.000000	0.978646	0.39482	D	2.135	0.59519	M	0.92	0.44461	T	-2.67	0.57110	D	0.729	0.73015	-0.7482	0.58029	T	0.182	0.52996	T	10	0.35547838	0.52308	T	0.06054	0.68036	D	0.281	0.59861	.	.	0.6216901815	0.61862	0.5252345117657378	0.52447	0.369878392956	0.38515	0.616666316986	0.55257	T	0.211926	0.75810	T	-0.0417071	0.45695	T	-0.111782	0.62468	T	0.452778667211533	0.30899	T	0.973303	0.93912	D	0.41465133	0.61734	0.43749774	0.67167	0.41465133	0.61734	0.43749774	0.67167	-13.49	0.91280	D	.	.	0.363	0.61061	A	.;.;.;.	.;.;.;.	3.883322	0.56458	23.7	0.9991635367915217	0.98449	0.94921	0.62793	D	AEFDGBI	0.697435	0.65544	D	0.41587314216504	0.62293	4.44303	0.369119011930472	0.59669	4.146584	0.999999998588274	0.74766	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	5.0	5.0	0.66209	4.153000	0.57895	3.173000	0.36621	0.599000	0.40250	0.999000	0.42656	0.997000	0.33255	0.075000	0.16954	0.0:1.0:0.0:0.0	15.018	0.71266	940	0.13648	WH2 domain|WH2 domain|WH2 domain;WH2 domain|WH2 domain|WH2 domain;WH2 domain|WH2 domain|WH2 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	957.98	38	chr7	51026605	.	C	T	957.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=775;ExcessHet=0.0000;FS=3.261;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.88;ReadPosRankSum=-1.375e+00;SOR=1.050	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1081	20	0	1	0
chr7	51029496	51029496	C	T	exonic	COBL	.	nonsynonymous SNV	COBL:NM_001346442:exon10:c.G1600A:p.G534S	.	.	434	1074	13	1	0	15	0.00693481	.	.	3393280	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.99	T	0.093	B	0.008	B	0.852	N	1.000	N	0	N	2.03	T	-0.992	T	0.045	T	0.033	-0.215	2.958	-11.2	-2.254	-1.401	13.714	0.022	0.00290247126906	0.0009	0.00219649	0.0013	0.0003	0.0017	0	0.0003	0.0013	0.0011	0.0028	0.0012419	192	154602	rs146340138	0.0013	0.0013	0.0012	0.0014	0.0127	0.0012	0.0012	0.0103	0.0095	0.0004	0.0019	0.0036	0	0.0002	0.0127	0.0012	0.0018	0.0024	0.0010	0.0010	0.0010	0.0011	0.0027	0.0009	0.0009	0.0016	0.0013	0.0003	0	0.0018	0.0035	0	0	0.0102	0.0013	0.0019	0.0027	0.698	0.05737	T	0.563	0.09022	T	0.026	0.25333	B	0.003	0.13708	B	0.852074	0.07064	N	1.077970	1	0.08975	N	-0.55	0.02420	N	2.03	0.20959	T	-0.34	0.13418	N	0.021	0.05799	-0.9915	0.32218	T	0.045	0.19518	T	10	0.003693074	0.00068	T	0.002902	0.06133	T	0.031	0.07369	.	.	0.27064940482	0.26676	0.051706240809728014	0.05112	0.0565490026263	0.06250	0.233647689223	0.02249	T	0.00522	0.25867	T	-0.721413	0.00027	T	-0.813651	0.01585	T	0.00708625608592982	0.00081	T	0.60194	0.22516	T	0.01821498	0.00342	0.028061533	0.01010	0.01821498	0.00342	0.028061533	0.01009	-2.044	0.04347	T	.	.	0.086	0.11269	B	.;.;.;.	.;.;.;.	-1.302906	0.00436	0.009	0.4123044888797377	0.02961	0.03150	0.08113	N	AEFBI	0.057485	0.10712	N	-1.54288511780511	0.01576	0.06887795	-1.7336238828865	0.00996	0.04465099	0.999999999967461	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.6	-11.2	0.00099	-1.116000	0.03397	-2.595000	0.03568	-0.825000	0.02924	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5992:0.0892:0.3117	13.714	0.62163	940	0.13648	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	7597.08	35	chr7	51029496	.	C	T	7597.08	.	AC=2;AF=0.048;AN=42;DP=1564;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.55;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,105,1575	20	1	0	0
chr7	51065368	51065368	G	A	exonic	COBL	.	nonsynonymous SNV	COBL:NM_001346444:exon8:c.C1178T:p.T393I,	.	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	.	.	.	.	-0.991	T	0.061	T	0.03	0.479	6.600	-4.69	-1.591	0.096	0.776	0.035	0.00028236073052	.	.	0.0004	0	0.0053	0	0	0	0	0.0007	3.88e-05	6	154602	rs768017227	7.8e-05	6.839e-05	3.954e-05	0.0001	0.0006	5.874e-05	5.219e-05	0.0005	0.0004	0	0	0	0	5.905e-05	0.0005	0	0	0.0006	1.314e-05	1.313e-05	2.569e-05	0	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.017	0.51248	D	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.17	0.09627	N	0.057	0.02861	-0.9905	0.32475	T	0.061	0.25635	T	5	0.006623447	0.00150	T	2.82E-4	0.00018	T	0.035	0.08770	0.292	0.25400	0.043077524339	0.03247	.	.	.	.	.	.	.	.	.	.	-0.604952	0.00136	T	-0.740305	0.03878	T	0.0314264008771409	0.02213	T	0.420658	0.11177	T	.	.	.	.	.	.	.	.	-3.994	0.23714	T	.	.	0.119	0.24396	B	.	.	0.433679	0.08038	4.761	0.89947748156734453	0.19244	0.00224	0.01258	N	AEFDBI	0.025683	0.01801	N	-1.03262312562789	0.07932	0.3702292	-1.29648715947604	0.04478	0.2113191	0.976775761302111	0.29756	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.34	-4.69	0.03061	-0.009000	0.12703	-0.004000	0.13159	-0.244000	0.07312	0.005000	0.17040	0.000000	0.08366	0.003000	0.05239	0.202:0.3322:0.1359:0.3299	0.776	0.00967	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2226.98	38	chr7	51065368	.	G	A	2226.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=874;ExcessHet=0.0000;FS=2.739;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.34;ReadPosRankSum=-1.060e-01;SOR=0.936	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr7	51136195	51136195	C	T	exonic	COBL	.	nonsynonymous SNV	COBL:NM_001287436:exon6:c.G920A:p.G307D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.801	P	0.417	B	0.729	N	1.000	N	1.5	L	1.01	T	-1.033	T	0.091	T	0.161	1.960	12.51	4.62	2.620	0.199	4.065	0.122	0.0154180455803	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1387438369	6.847e-07	6.84e-07	0	1.376e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.34982	T	0.106	0.37872	T	0.801	0.45051	P	0.417	0.44992	B	0.728646	0.09874	N	0.852484	1	0.08975	N	1.39	0.34934	L	1.01	0.41058	T	-1.67	0.44852	N	0.234	0.36359	-1.0334	0.19363	T	0.091	0.34955	T	10	0.101707995	0.18599	T	0.015418	0.36141	T	0.122	0.33800	0.303	0.27164	0.365710854667	0.36188	0.14042166852442511	0.13965	0.263161145302	0.28869	0.292554408312	0.09295	T	0.021267	0.35394	T	-0.286016	0.10040	T	-0.551765	0.17157	T	0.216408252716064	0.21283	T	0.827917	0.51077	T	0.085179254	0.19749	0.073767625	0.16066	0.085179254	0.19748	0.073767625	0.16066	-8.436	0.64443	D	.	.	0.149	0.40810	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.947204	0.13229	9.732	0.97590552783824258	0.34791	0.04229	0.09748	N	AEFGBI	0.086471	0.17532	N	-0.383343100667105	0.26061	1.419513	-0.426833039335361	0.24213	1.32468	0.999860425681074	0.44398	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.55	4.62	0.56946	0.227000	0.17575	0.009000	0.13411	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.078000	0.17132	0.1756:0.5913:0.1482:0.0848	4.065	0.09334	830	0.39242	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2942.98	38	chr7	51136195	.	C	T	2942.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.200e-02;DP=973;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.19;ReadPosRankSum=-1.616e+00;SOR=0.690	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr7	55152588	55152588	G	A	exonic	EGFR	.	nonsynonymous SNV	EGFR:NM_001346897:exon5:c.G536A:p.R179H	Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, Autosomal recessive;Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	833665	EGFR-related_lung_cancer	MedGen:CN130014	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.988	D	0.000	D	0.999	D	1.775	L	-0.02	T	-0.325	T	0.396	T	0.53	4.607	25.1	5.3	2.448	4.545	17.508	0.196	0.0464735616129	.	.	5.829e-05	0	0	0	0	6.082e-05	0	0.0002	4.53e-05	7	154602	rs759106015	2.053e-05	2.121e-05	1.634e-05	2.476e-05	0.0002	1.456e-05	1.264e-05	7.123e-05	5.481e-05	0	0	0	0	0	0.0002	1.619e-05	0	0.0001	1.314e-05	1.313e-05	1.285e-05	1.345e-05	6.544e-05	2.18e-06	8.2e-07	.	.	0	0	6.544e-05	0	0	0	0	1.47e-05	0	0	0.121	0.27783	T	0.129	0.56192	T	0.991	0.90584	D	0.829	0.77976	P	0.000002	0.62929	D	0.098646	0.99594	0.46701	D	1.915	0.51223	L	-0.02	0.62918	T	-1.09	0.30555	N	0.49	0.53445	-0.3251	0.74278	T	0.396	0.74836	T	10	0.46462157	0.59494	T	0.046474	0.62475	D	0.196	0.47777	0.598	0.72862	0.70270300816	0.70012	0.5241999765727162	0.52343	1.54032423807	0.87701	0.526009619236	0.42472	T	0.443514	0.87115	T	-0.161655	0.26506	T	-0.233314	0.51451	T	0.676087915897369	0.39611	D	0.952605	0.85096	D	0.5014509	0.67180	0.2179561	0.46481	0.5014509	0.67181	0.2179561	0.46480	-3.743	0.25892	T	0.15882935053039832	0.19272	0.142	0.37274	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.958466	0.81967	27.7	0.99948131899816983	0.99923	0.91275	0.53206	D	AEFDBI	0.529802	0.55076	D	0.616046071119135	0.74188	6.090574	0.616197070354043	0.76115	6.432054	0.999999483995998	0.74766	0.653281	0.48532	0	0.59043	0.45803	0	0.602189	0.34648	0	0.669	0.65921	0	.	.	5.3	5.3	0.74745	4.414000	0.59555	8.369000	0.77044	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.292000	0.24309	0.0:0.0:1.0:0.0	17.508	0.87649	947	0.11584	Furin-like cysteine-rich domain;.;Furin-like cysteine-rich domain;.;.;Furin-like cysteine-rich domain;Furin-like cysteine-rich domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1751.98	39	chr7	55152588	.	G	A	1751.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=921;ExcessHet=0.0000;FS=0.666;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.90;ReadPosRankSum=-3.760e-01;SOR=0.604	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	20	0	1	0
chr7	55425326	55425326	C	T	exonic	LANCL2	.	nonsynonymous SNV	LANCL2:NM_018697:exon7:c.C1081T:p.R361W,	.	.	432	1089	1	0	0	1	0.000458926	.	.	2288405	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.985	D	0.000	D	1.000	D	2.98	M	0.92	T	-0.529	T	0.265	T	0.453	3.092	16.33	4.49	1.401	3.330	7.019	0.347	0.141622350235	.	0.000399361	8.237e-05	0.0002	0	0	0	0.0001	0	0	7.76e-05	12	154602	rs201797363	3.147e-05	3.147e-05	2.995e-05	3.3e-05	0.0003	2.412e-05	2.157e-05	6.092e-05	2.521e-05	2.987e-05	4.472e-05	0	0	0	0.0003	3.507e-05	3.311e-05	0	5.911e-05	5.906e-05	6.426e-05	5.374e-05	7.351e-05	3.076e-05	2.209e-05	2.847e-05	1.858e-05	7.221e-05	0	0	0	0	9.422e-05	0	7.351e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	2.95	0.84923	M	0.92	0.44461	T	-5.45	0.85468	D	0.615	0.63120	-0.5289	0.67583	T	0.265	0.63630	T	10	0.5938543	0.66531	D	0.141622	0.82403	D	0.347	0.66863	.	.	0.470535617109	0.46680	0.7675401872524674	0.76703	0.939492545994	0.72166	0.81851708889	0.84802	D	0.23162	0.59799	T	-0.237322	0.15691	T	-0.299238	0.44805	T	0.967156887054443	0.67815	D	0.939806	0.77272	D	0.4811339	0.65969	0.43293878	0.66863	0.4811339	0.65970	0.43293878	0.66863	-11.839	0.84058	D	.	.	0.776	0.76179	P	.	.	5.244406	0.88041	29.5	0.99912441427686016	0.98167	0.87330	0.46836	D	AEFDBCI	0.513285	0.54115	D	0.504070768099616	0.67331	5.067288	0.370020546432119	0.59721	4.152556	0.999918095817297	0.45857	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.37	4.49	0.54177	3.333000	0.51806	3.214000	0.36817	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.437000	0.27605	0.2631:0.6535:0.0:0.0834	7.019	0.24081	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1226.98	39	chr7	55425326	.	C	T	1226.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.287e+00;DP=793;ExcessHet=0.0000;FS=0.755;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=0.686;SOR=0.861	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1181	20	0	1	0
chr7	55819148	55819148	A	G	exonic	SEPTIN14	.	nonsynonymous SNV	SEPTIN14:NM_207366:exon7:c.T796C:p.Y266H,	.	.	438	1078	6	0	0	6	0.00277521	.	.	3317685	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	0.995	D	4.265	H	0.1	T	0.293	D	0.527	D	0.458	3.765	19.12	3.85	1.730	5.883	10.914	0.511	0.0177265798952	0.0002	.	0.0008	0	0.0009	0	0	0.0013	0	0.0008	0.0002458	38	154602	rs368110863	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0002	0.0005	0.0004	0	7.447e-05	7.836e-05	0	3.87e-05	0.0010	0.0002	0.0004	0.0006	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	9.24e-05	0.0001	0.0001	2.413e-05	0	0.0003	0	0	0	0	0.0002	0.0010	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000087	0.51296	D	0.000000	0.994806	0.42423	D	4.17	0.97676	H	0.1	0.61326	T	-4.73	0.80085	D	0.856	0.85238	0.293	0.87451	D	0.527	0.82423	D	10	0.70511633	0.72688	D	0.017727	0.39542	T	0.511	0.79033	.	.	0.82953268579	0.82791	0.8631753119063565	0.86281	0.488469659113	0.47645	0.795006930828	0.81203	T	0.37677	0.74009	T	-0.179676	0.23783	T	-0.15532	0.58771	T	0.862921714782715	0.51320	D	0.985476	0.95021	D	0.8406141	0.86652	0.72309667	0.83647	0.8406141	0.86654	0.72309667	0.83648	-10.879	0.78990	D	.	.	0.769	0.75873	P	.	.	4.577351	0.72282	25.8	0.99859969831478768	0.93820	0.89689	0.50315	D	AEFDI	0.598128	0.59164	D	0.826979044880065	0.87763	9.331443	0.66692755664816	0.79878	7.176116	0.0025009672325353	0.09478	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	3.85	3.85	0.43556	6.069000	0.70846	10.691000	0.83578	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	10.914	0.46333	845	0.36510	Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2535.11	34	chr7	55819148	.	A	G	2535.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.714;DP=901;ExcessHet=0.1072;FS=3.741;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.37;ReadPosRankSum=1.24;SOR=0.496	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1173	19	0	2	0
chr7	55846558	55846558	C	G	exonic	SEPTIN14	.	nonsynonymous SNV	SEPTIN14:NM_207366:exon3:c.G134C:p.R45T,	.	.	430	1048	39	5	0	49	0.0228438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.774	P	0.423	B	0.019	N	0.997	N	1.385	L	1.36	T	-1.062	T	0.058	T	0.218	2.230	13.41	2.38	0.431	0.472	7.127	0.044	.	0.0035	0.0071885	0.0075	0.0007	0.0022	0.0001	0.0142	0.0049	0.0089	0.0266	0.0067787	1048	154602	rs146350220	0.0064	0.0066	0.0057	0.0071	0.0256	0.0063	0.0063	0.0247	0.0244	0.0005	0.0012	0.0078	0	0.0149	0.0155	0.0051	0.0056	0.0256	0.0049	0.0049	0.0038	0.0060	0.0300	0.0046	0.0045	0.0261	0.0245	0.0014	0	0.0017	0.0092	0	0.0161	0.0102	0.0044	0.0043	0.0300	0.001	0.78490	D	0.002	0.79402	D	0.774	0.44062	P	0.423	0.45170	B	0.018620	0.27444	N	0.233204	0.996543	0.22981	N	1.995	0.54099	M	1.36	0.34452	T	-3.34	0.66325	D	0.52	0.55019	-1.0624	0.11166	T	0.058	0.24167	T	10	0.009386629	0.00212	T	.	.	.	0.044	0.11924	.	.	0.457377140028	0.45363	0.618325121068738	0.61765	0.199465451003	0.22341	0.36678853631	0.20370	T	0.088269	0.38122	T	-0.529448	0.00387	T	-0.514368	0.20867	T	0.0379570245532962	0.03324	T	0.970403	0.89360	D	0.22744139	0.45444	0.24017282	0.49385	0.22744139	0.45444	0.24017282	0.49384	-6.304	0.48754	T	.	.	0.162	0.35788	B	.	.	1.156355	0.15446	11.86	0.96980753890656735	0.31859	0.72568	0.35515	D	AEFI	0.273546	0.38893	N	-0.201172272507631	0.33086	1.873169	-0.286955453795462	0.28527	1.591315	3.33323393972252E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.4	2.38	0.28415	0.309000	0.19094	-2.270000	0.03971	0.587000	0.30956	0.616000	0.27880	0.000000	0.08366	0.634000	0.32262	0.0:0.6861:0.0:0.3139	7.127	0.24654	835	0.38313	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	3418.68	34	chr7	55846558	.	C	G	3418.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.248e+00;DP=908;ExcessHet=0.3300;FS=0.904;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=0.713;SOR=0.633	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1169	18	0	3	0
chr7	56068539	56068539	C	G	exonic	SUMF2	.	nonsynonymous SNV	SUMF2:NM_001042468:exon2:c.C125G:p.T42R	.	.	434	1078	9	1	0	11	0.00507614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.992	D	0.000	D	1.000	D	2.315	M	-3.5	D	1.009	D	0.901	D	0.724	4.667	25.7	5.01	2.489	7.046	17.245	0.839	.	.	0.00898562	0.0045	0	0.0004	0.0001	0	1.5e-05	0.0056	0.0325	0.0039586	612	154602	rs369882538	0.0021	0.0021	0.0011	0.0030	0.0331	0.0020	0.0020	0.0320	0.0316	5.977e-05	0	0	5.038e-05	0	0.0010	1.349e-05	0.0024	0.0331	0.0013	0.0013	0.0007	0.0018	0.0389	0.0011	0.0011	0.0343	0.0326	4.816e-05	0	6.56e-05	0	0.0002	0	0.0034	1.47e-05	0	0.0389	0.001	0.78490	D	0.002	0.83351	D	0.999	0.77913	D	0.972	0.72923	D	0.000000	0.84330	D	0.045618	1	0.81001	D	.	.	.	-3.5	0.94658	D	-5.01	0.83292	D	0.564	0.58883	1.009	0.97333	D	0.901	0.96711	D	10	0.009661853	0.00217	T	.	.	.	0.839	0.94952	.	.	0.97771676376	0.97747	.	.	0.295235085784	0.31929	0.444704711437	0.31220	T	0.767328	0.94254	D	-0.0310321	0.47268	T	0.206333	0.83473	D	0.0776474800912881	0.09684	T	0.973103	0.92475	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.51428	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.385714	0.67640	25.1	0.99549633890726708	0.71023	0.99446	0.96131	D	AEFBI	0.884092	0.81351	D	0.774866610479177	0.84511	8.308345	0.738418617030705	0.85290	8.536415	0.999999999999312	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	7.019000	0.76152	.	.	0.443000	0.21123	1.000000	0.71638	0.984000	0.30665	0.997000	0.79791	0.0:1.0:0.0:0.0	17.245	0.86911	619	0.66147	Sulfatase-modifying factor enzyme;Sulfatase-modifying factor enzyme;Sulfatase-modifying factor enzyme;Sulfatase-modifying factor enzyme;Sulfatase-modifying factor enzyme;.;Sulfatase-modifying factor enzyme;Sulfatase-modifying factor enzyme	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1118.98	94	chr7	56068539	.	C	G	1118.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.920e-01;DP=1189;ExcessHet=0.0000;FS=1.598;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.08;ReadPosRankSum=1.64;SOR=0.608	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr7	56081068	56081068	C	T	exonic	PHKG1	.	nonsynonymous SNV	PHKG1:NM_001258460:exon10:c.G1123A:p.E375K	.	.	.	.	.	.	.	.	.	.	.	2363036	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.8	T	0.659	P	0.056	B	0.000	D	0.641	N	1.04	L	-0.39	T	-0.805	T	0.158	T	0.495	2.220	13.38	5.53	2.775	2.627	12.365	0.176	0.0148383491553	0.0002	0.000199681	1.69e-05	0	0	0	0	3.092e-05	0	0	1.94e-05	3	154602	rs141230469	3.288e-05	3.283e-05	3.271e-05	3.304e-05	0.0002	2.546e-05	2.252e-05	2.743e-05	2.469e-05	0	2.236e-05	0	5.038e-05	0	0.0002	3.688e-05	3.319e-05	1.16e-05	3.282e-05	3.28e-05	5.138e-05	1.342e-05	7.349e-05	1.26e-05	7.97e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0	0	0.177	0.22224	T	0.28	0.21678	T	0.024	0.19075	B	0.002	0.06944	B	0.000002	0.62929	D	0.000000	0.640541	0.30620	N	0.805	0.20218	L	-0.39	0.70133	T	-0.54	0.16598	N	0.265	0.46462	-0.8055	0.54819	T	0.158	0.49145	T	10	0.12806153	0.24358	T	0.014838	0.35215	T	0.176	0.44373	.	.	0.829930217576	0.82831	0.36636849806460503	0.36550	0.279714035493	0.30458	0.451523125172	0.32152	T	0.209141	0.56927	T	-0.105683	0.35482	T	-0.220455	0.52694	T	0.261633038520813	0.23386	T	0.873013	0.58094	D	0.28238803	0.51276	0.31458065	0.57449	0.28238803	0.51276	0.31458065	0.57448	-3.026	0.12938	T	.	.	0.094	0.24532	B	.;.;.	.;.;.	2.941677	0.39111	20.9	0.99484853622796265	0.67124	0.85645	0.44800	D	AEFDBCI	0.414298	0.48362	N	-0.166676967676434	0.34528	1.971849	0.0115187221338831	0.40250	2.399042	0.973092576119285	0.29426	0.421363	0.06395	0	0.379588	0.06130	0	0.536957	0.11973	0	0.322989	0.05693	1	.	.	5.53	5.53	0.82530	2.676000	0.46550	.	.	0.599000	0.40250	0.984000	0.35821	1.000000	0.68203	0.215000	0.22324	0.0:0.9199:0.0:0.0801	12.365	0.54554	629	0.65079	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1757.98	41	chr7	56081068	.	C	T	1757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.78;DP=846;ExcessHet=0.0000;FS=0.661;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.89;MQRankSum=0.00;QD=13.22;ReadPosRankSum=1.34;SOR=0.780	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr7	56081167	56081167	C	T	exonic	PHKG1	.	nonsynonymous SNV	PHKG1:NM_001258460:exon10:c.G1024A:p.A342T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.58	M	0.69	T	-0.281	T	0.345	T	0.781	5.639	36	5.16	2.590	7.818	18.032	0.316	0.0650783054506	0.0002	0.000199681	4.962e-05	0.0004	8.642e-05	0	0	1.507e-05	0	0	5.17e-05	8	154602	rs200148808	6.226e-05	6.225e-05	6.944e-05	5.501e-05	0.0002	5.162e-05	4.781e-05	9.752e-05	6.952e-05	0.0002	2.236e-05	0	0	0	0	7.285e-05	3.312e-05	0	7.88e-05	7.874e-05	0.0001	5.372e-05	0.0003	4.494e-05	3.51e-05	0.0001	0.0001	0.0003	0	0	0	0.0002	0	0	0	0	0	0.004	0.68238	D	0.039	0.64786	D	1.0	0.90584	D	0.899	0.63802	P	0.000002	0.62929	D	0.000000	1	0.81001	D	2.865	0.83145	M	0.69	0.51714	T	-3.15	0.65627	D	0.716	0.79696	-0.2806	0.75524	T	0.345	0.71004	T	10	0.50665885	0.61858	D	0.065078	0.69472	D	0.316	0.63799	.	.	0.759977468783	0.75779	0.8110861950254451	0.81063	0.637870713322	0.57527	0.752225041389	0.74775	T	0.509173	0.82612	D	-0.083927	0.39074	T	-0.00429811	0.70056	D	0.848823606967926	0.50064	D	0.950605	0.83071	D	0.3955491	0.60423	0.39056277	0.63848	0.3955491	0.60423	0.39056277	0.63848	-6.351	0.49125	T	.	.	0.350	0.64794	A	.;.;.	.;.;.	4.999555	0.82944	27.9	0.99934707666718514	0.99535	0.95909	0.66678	D	AEFDBCI	0.909482	0.86618	D	0.833098327822869	0.88124	9.462621	0.787424614323406	0.88907	9.761503	0.999999999949386	0.74766	0.660377	0.49826	0	0.379588	0.06130	0	0.696353	0.63694	0	0.528226	0.09195	0	.	.	5.16	5.16	0.70563	7.905000	0.86479	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:1.0:0.0:0.0	18.032	0.89212	629	0.65079	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2116.98	41	chr7	56081167	.	C	T	2116.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.859;DP=897;ExcessHet=0.0000;FS=2.606;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=0.874;SOR=0.513	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr7	57120721	57120721	T	C	exonic	ZNF479	.	nonsynonymous SNV	ZNF479:NM_001370129:exon4:c.A694G:p.K232E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.999	D	0.995	D	.	.	1.000	N	0.525	N	0.73	T	-0.995	T	0.127	T	0.121	1.342	10.41	-2.31	-0.460	-0.694	3.185	0.031	0.00235173392922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.63226	T	0.125	0.47336	T	0.999	0.77913	D	0.995	0.83170	D	.	.	.	.	1	0.08975	N	0.215	0.09537	N	0.73	0.50721	T	-3.5	0.72240	D	0.032	0.04188	-0.9953	0.31218	T	0.127	0.43462	T	9	0.10196987	0.20756	T	0.002352	0.04562	T	0.031	0.07369	0.316	0.29258	0.536709800451	0.53320	0.005311997520773123	0.00502	2.33552336505	0.96710	0.333855777979	0.15516	T	0.051476	0.36990	T	-0.270579	0.11692	T	-0.626444	0.10685	T	0.348601686440297	0.26964	T	0.125687	0.28992	T	0.06962811	0.15271	0.095615394	0.22684	0.06962811	0.15271	0.095615394	0.22683	-6.958	0.53727	T	.	.	0.119	0.30502	B	.;.;.	.;.;.	2.121013	0.27001	17.31	0.9380021370500069	0.23769	0.03298	0.08353	N	AEBHCI	0.023620	0.01342	N	-0.683603040190829	0.16489	0.8405417	-0.982707784557641	0.10173	0.5107245	4.0375864851549E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.31	0.06380	-0.614000	0.05699	.	.	0.327000	0.19478	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.2395:0.4581:0.3024	3.185	0.06203	952	0.10565	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1426.98	79	chr7	57120721	.	T	C	1426.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.954e+00;DP=1194;ExcessHet=0.0000;FS=1.953;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=47.32;MQRankSum=-1.404e+00;QD=18.06;ReadPosRankSum=-5.850e-01;SOR=0.495	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1119	20	0	1	0
chr7	57126056	57126056	T	C	exonic	ZNF479	.	nonsynonymous SNV	ZNF479:NM_001370129:exon3:c.A224G:p.Q75R	.	.	452	1018	47	5	0	57	0.0272336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.0	B	0.001	B	.	.	1.000	N	-0.8	N	3.31	T	-0.939	T	0.005	T	0.128	-0.088	3.569	-0.203	-0.341	-0.863	3.929	0.018	.	0.0055	0.00339457	0.0058	0.0017	0.0068	0.0002	0.0021	0.0068	0.0114	0.0077	0.0049094	759	154602	rs199932939	0.0053	0.0053	0.0050	0.0056	0.0246	0.0052	0.0051	0.0213	0.0201	0.0016	0.0076	0.0126	0	0.0023	0.0246	0.0049	0.0072	0.0091	0.0048	0.0048	0.0044	0.0053	0.0085	0.0045	0.0044	0.0064	0.0059	0.0015	0	0.0055	0.0101	0.0002	0.0035	0.0238	0.0066	0.0104	0.0085	0.054	0.38633	T	0.122	0.36630	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.84	0.01504	N	3.31	0.06291	T	-0.77	0.21429	N	0.138	0.13626	-0.9389	0.42790	T	0.005	0.01578	T	9	0.005461186	0.00120	T	.	.	.	0.018	0.03083	.	.	0.119812018005	0.11559	0.015442727878878133	0.01500	0.937583356376	0.72088	0.343715667725	0.16993	T	0.006166	0.16623	T	-0.698216	0.00037	T	-0.770166	0.02763	T	0.00105148513774967	0.00010	T	0.0993901	0.01432	T	0.017931126	0.00316	0.03834946	0.03684	0.017931126	0.00316	0.03834946	0.03684	-0.546	0.00612	T	.	.	0.070	0.05668	B	.;.;.	.;.;.	0.618681	0.09873	6.632	0.7000091064038827	0.09153	0.00021	0.00226	N	AEFI	0.013016	0.00159	N	-1.51131193355416	0.01775	0.0777514	-1.55381002604836	0.01950	0.08900711	1.12376233501182E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.25	-0.203	0.12555	0.387000	0.20445	.	.	-0.978000	0.01909	0.003000	0.16062	0.000000	0.08366	0.000000	0.00833	0.0:0.6961:0.0:0.3039	3.929	0.08776	952	0.10565	Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2066.98	34	chr7	57126056	.	T	C	2066.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.432e+00;DP=891;ExcessHet=0.0000;FS=6.009;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.56;MQRankSum=0.552;QD=10.49;ReadPosRankSum=1.90;SOR=0.408	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr7	64265926	64265926	C	T	exonic	ZNF679	.	nonsynonymous SNV	ZNF679:NM_153363:exon5:c.C293T:p.P98L,	.	.	435	1054	33	0	0	33	0.0154134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.004	B	0.0	B	.	.	0.998	N	-1.32	N	3.38	T	-0.935	T	0.005	T	0.179	-1.370	0.026	-1.64	-1.205	-1.885	3.561	0.017	.	0.0009	0.00359425	0.0030	0.0003	0.0007	0	0	0.0016	0.0090	0.0143	0.0026132	404	154602	rs78910755	0.0019	0.0019	0.0013	0.0024	0.0241	0.0018	0.0018	0.0209	0.0196	0.0009	0.0010	0.0016	2.521e-05	5.619e-05	0.0241	0.0010	0.0025	0.0138	0.0014	0.0014	0.0012	0.0015	0.0125	0.0012	0.0011	0.0099	0.0090	0.0003	0	0.0012	0.0006	0	0	0.0204	0.0016	0.0009	0.0125	0.322	0.13479	T	0.668	0.06345	T	0.004	0.12183	B	0.0	0.01387	B	.	.	.	.	0.998266	0.22259	N	-1.475	0.00530	N	3.38	0.05778	T	0.64	0.02368	N	0.112	0.09914	-0.9349	0.43409	T	0.005	0.01578	T	9	0.0034675002	0.00061	T	.	.	.	0.017	0.02790	.	.	0.247322355667	0.24350	0.028878203545418923	0.02837	0.00394543287202	0.00340	0.336887985468	0.15972	T	6.36E-4	0.00271	T	-0.660804	0.00062	T	-0.72876	0.04384	T	0.00156192845272504	0.00016	T	0.382462	0.09295	T	0.019914115	0.00533	0.030808495	0.01585	0.019914115	0.00532	0.030808495	0.01585	2.251	0.00041	T	.	.	0.066	0.02091	B	.;.	.;.	-0.135277	0.03438	0.630	0.21974844898338144	0.00862	0.01365	0.04666	N	AEFBCI	0.035420	0.04555	N	-1.93745839585794	0.00287	0.01232456	-1.96046554722586	0.00370	0.01634998	2.73329477662184E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.819	-1.64	0.07874	-0.429000	0.07051	.	.	-0.674000	0.04282	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5768:0.4232:0.0:0.0	3.561	0.07432	851	0.35303	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2002.98	33	chr7	64265926	.	C	T	2002.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.330e-01;DP=857;ExcessHet=0.0000;FS=1.426;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.73;ReadPosRankSum=-8.340e-01;SOR=0.540	GT:AD:DP:GQ:PL	0/1:57,79:136:99:2017,0,1432	20	0	1	0
chr7	64706534	64706534	A	C	exonic	ZNF107	.	nonsynonymous SNV	ZNF107:NM_001282360:exon3:c.A341C:p.Q114P	.	.	433	1073	14	2	0	18	0.00831793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.068	B	0.041	B	.	.	1.000	N	2.6	M	4.51	T	-0.945	T	0.091	T	0.348	0.778	8.107	-1.83	-0.963	0.244	1.929	0.063	.	7.7e-05	0.00319489	0.0018	0.0002	0.0003	0.0001	0	7.554e-05	0.0022	0.0123	0.0015847	245	154602	rs142189998	0.0008	0.0008	0.0004	0.0011	0.0115	0.0007	0.0007	0.0109	0.0106	0	9.101e-05	0	5.045e-05	0	0.0023	5.945e-05	0.0007	0.0115	0.0004	0.0004	0.0002	0.0005	0.0099	0.0003	0.0003	0.0077	0.0069	0	0	6.535e-05	0	0	0	0	7.354e-05	0	0.0099	0.06	0.42783	T	0.055	0.61642	T	0.068	0.23728	B	0.041	0.23986	B	.	.	.	.	1	0.08975	N	2.545	0.74286	M	4.51	0.36691	T	-5.49	0.85765	D	0.264	0.29889	-0.9447	0.41863	T	0.091	0.34901	T	9	0.015808195	0.00332	T	.	.	.	0.063	0.18251	.	.	0.0138822411134	0.00435	0.10091240539678027	0.10022	0.00731415043259	0.00644	0.24811989069	0.03572	T	0.068794	0.53556	T	-0.492326	0.00631	T	-0.469581	0.25562	T	0.0348393270386304	0.02781	T	0.0692931	0.30630	T	0.21785568	0.44279	0.20405993	0.44512	0.21785568	0.44279	0.20405993	0.44511	-6.634	0.51312	T	.	.	0.097	0.15966	B	.;.;.;.;.;.	.;.;.;.;.;.	0.801542	0.11722	8.300	0.87872778380439376	0.17545	0.00009	0.00143	N	AEFDGBHCI	0.047531	0.08015	N	-1.2704182975546	0.04037	0.1814379	-1.47340553929022	0.02564	0.1181649	0.00248549871691667	0.09470	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	0.916	-1.83	0.07410	-0.188000	0.09638	.	.	-0.339000	0.05715	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4213:0.2895:0.0:0.2892	1.929	0.03121	799	0.44747	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1001.98	46	chr7	64706534	.	A	C	1001.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.190e-01;DP=906;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.12;ReadPosRankSum=-1.208e+00;SOR=0.692	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1090	20	0	1	0
chr7	64978457	64978457	G	C	exonic	ERV3-1-ZNF117;ZNF117	.	nonsynonymous SNV	ERV3-1-ZNF117:NM_001348050:exon4:c.C1114G:p.Q372E	.	.	.	.	.	.	.	.	.	.	.	3488352	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.23	T	0.38	B	0.099	B	.	.	1.000	N	1.295	L	3.2	T	-0.973	T	0.016	T	0.057	-0.077	3.621	0.068	-0.287	-5.247	5.283	0.009	0.00100263254414	0.0002	.	5.804e-05	0	0	0	0	8.998e-05	0.0011	0	5.82e-05	9	154602	rs372156794	6.637e-05	6.635e-05	5.855e-05	7.428e-05	0.0002	5.563e-05	5.154e-05	6.06e-05	5.569e-05	0	0	0	0	0	0.0002	7.376e-05	0.0002	0	3.317e-05	3.297e-05	6.476e-05	0	6.607e-05	1.27e-05	8.05e-06	1.981e-05	1.13e-05	0	0	6.607e-05	0	0	0	0	5.919e-05	0	0	0.271	0.15984	T	0.139	0.33666	T	0.38	0.34363	B	0.099	0.30579	B	.	.	.	.	1	0.08975	N	1.21	0.30464	L	3.2	0.07236	T	-1.49	0.36385	N	0.041	0.01658	-0.9732	0.36518	T	0.016	0.06569	T	9	0.062168717	0.07909	T	0.001003	0.01073	T	0.009	0.00846	.	.	0.193865811164	0.18958	0.004080550305960712	0.00383	0.0146290054769	0.01385	.	.	.	0.002591	0.01984	T	-0.536848	0.00350	T	-0.811278	0.01636	T	0.0475859923272462	0.05069	T	0.00569943	0.00021	T	0.058788665	0.11869	0.052073	0.08507	0.058788665	0.11869	0.052073	0.08507	-6.894	0.53255	T	.	.	0.208	0.43585	B	.;.	.;.	-0.457299	0.02008	0.178	0.46257543262248757	0.03692	0.00094	0.00618	N	AEFBHCI	0.038782	0.05538	N	-1.325419231853	0.03387	0.1512041	-1.48884496253053	0.02435	0.1120018	0.00976411137590875	0.11910	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	1.11	0.068	0.13678	-3.503000	0.00500	.	.	-0.731000	0.03728	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2261:0.0:0.7739:0.0	5.283	0.14997	716	0.55970	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1692.98	61	chr7	64978457	.	G	C	1692.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.280e-01;DP=1312;ExcessHet=0.0000;FS=0.640;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=0.151;SOR=0.628	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	20	0	1	0
chr7	64978605	64978608	GTCA	-	exonic	ERV3-1-ZNF117;ZNF117	.	frameshift deletion	ERV3-1-ZNF117:NM_001348050:exon4:c.963_966del:p.D322Ifs*31	.	.	439	1081	2	0	0	2	0.000924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.000599042	0.0007	0.0003	0	0	0.0002	0.0003	0	0.0035	0.0005757	89	154602	rs535488637	0.0004	0.0004	0.0003	0.0005	0.0034	0.0003	0.0003	0.0031	0.0030	0.0001	0	0	0	0.0001	0	0.0002	0.0001	0.0034	0.0003	0.0003	0.0003	0.0002	0.0019	0.0002	0.0002	0.0010	0.0007	0.0003	0	0	0	0	9.441e-05	0	0.0003	0	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2256.94	61	chr7	64978604	.	GGTCA	G	2256.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.753e+00;DP=1237;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.13;ReadPosRankSum=0.499;SOR=0.761	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	20	0	1	0
chr7	66089678	66089678	G	A	exonic	ASL	.	nonsynonymous SNV	ASL:NM_001024944:exon12:c.G985A:p.V329I	Argininosuccinic aciduria, Autosomal recessive	YES	1	1509	12	0	0	12	0.0039604	.	.	562137	Argininosuccinate_lyase_deficiency|Inborn_genetic_diseases	Human_Phenotype_Ontology:HP:0025630,MONDO:MONDO:0008815,MedGen:C0268547,OMIM:207900,Orphanet:23|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.003	B	0.008	B	0.007	N	1.000	D	1.37	L	-5.49	D	0.847	D	0.901	D	0.2	3.185	16.66	3.27	1.167	3.442	10.878	0.417	0.767061574431	.	.	3.377e-05	0.0002	0	0	0	3.071e-05	0	0	3.23e-05	5	154602	rs372774556	1.642e-05	1.71e-05	1.498e-05	1.788e-05	0.0007	1.111e-05	9.34e-06	0.0002	0.0001	8.961e-05	2.237e-05	0	0	0	0.0007	7.196e-06	9.936e-05	2.319e-05	4.601e-05	4.597e-05	5.14e-05	4.036e-05	0.0001	2.11e-05	1.527e-05	6.284e-05	4.3e-05	0.0001	0	0	0	0	0	0	1.47e-05	0	0	0.066	0.36709	T	0.074	0.43159	T	0.0	0.02946	B	0.004	0.10090	B	0.006580	0.31942	N	0.287960	0.999998	0.58761	D	1.705	0.44259	L	-5.49	0.99138	D	-0.79	0.22727	N	0.306	0.34552	0.847	0.94993	D	0.901	0.96728	D	10	0.3841306	0.54414	T	0.767062	0.98155	D	0.426	0.73372	.	.	0.772969789451	0.77088	0.4640831040065916	0.46327	0.214777660521	0.24017	0.470051646233	0.34688	T	0.333204	0.70308	T	-0.0564629	0.43457	T	-0.082213	0.64741	T	0.0393144343705906	0.03566	T	0.90251	0.65969	D	0.088668205	0.20692	0.058937516	0.10977	0.088668205	0.20692	0.058937516	0.10977	-7.332	0.56422	T	0.27305654431238924	0.36701	0.098	0.29311	B	.;.;.;.;.	.;.;.;.;.	3.859400	0.55956	23.7	0.99557602303616932	0.71583	0.91689	0.54055	D	AEFDBI	0.731633	0.67865	D	-0.151347175078262	0.35176	2.017264	-0.016678462299334	0.38961	2.303016	0.175600548627444	0.17799	0.732398	0.92422	0	0.643519	0.57511	0	0.570548	0.19454	0	0.727631	0.95156	0	.	.	5.09	3.27	0.36580	4.112000	0.57585	3.165000	0.36586	0.655000	0.54021	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.1552:0.0:0.8448:0.0	10.878	0.46131	474	0.77851	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1143.98	37	chr7	66089678	.	G	A	1143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.620;DP=868;ExcessHet=0.0000;FS=0.790;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.57;ReadPosRankSum=-6.830e-01;SOR=0.578	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	20	0	1	0
chr7	66771977	66771977	C	T	exonic	RABGEF1	.	nonsynonymous SNV	RABGEF1:NM_001367744:exon2:c.C13T:p.R5W	.	.	8	1513	1	0	0	1	0.00033036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.442e-05	0	0	0	0	3.003e-05	0	0.0004	5.82e-05	9	154602	rs765828930	3.045e-05	3.42e-05	1.928e-05	4.173e-05	0.0003	2.308e-05	2.056e-05	0.0002	0.0001	3.066e-05	0	0	2.623e-05	0	0.0002	1.63e-05	1.675e-05	0.0003	6.573e-06	1.313e-05	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.02381	1245.98	36	chr7	66771977	.	C	T	1245.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=797;ExcessHet=0.0000;FS=6.385;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=-4.800e-02;SOR=0.755	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	20	0	1	0
chr7	67018127	67018127	A	G	exonic	TYW1	.	nonsynonymous SNV	TYW1:NM_018264:exon6:c.A845G:p.H282R,	.	.	433	1069	20	0	0	20	0.00926784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.0	B	0.001	B	0.082	U	1.000	N	1.245	L	2.35	T	-1.017	T	0.032	T	0.069	0.887	8.600	-3.03	-0.355	0.345	5.299	0.012	0.00492190442855	0.0036	0.00139776	0.0032	0.0007	0.0021	0	0.0006	0.0049	0.0056	0.0017	0.0029624	458	154602	rs151211596	0.0027	0.0027	0.0027	0.0028	0.0177	0.0027	0.0026	0.0149	0.0139	0.0006	0.0021	0.0302	0	0.0008	0.0177	0.0022	0.0049	0.0021	0.0024	0.0024	0.0025	0.0024	0.0027	0.0022	0.0021	0.0021	0.0020	0.0006	0	0.0027	0.0315	0	0.0008	0.0170	0.0024	0.0057	0.0019	0.331	0.13088	T	0.546	0.09588	T	0.0	0.02946	B	0.001	0.04355	B	0.081652	0.02360	U	1.924850	1	0.08975	N	1.475	0.37068	L	2.35	0.16217	T	-1.39	0.34397	N	0.049	0.02088	-1.0174	0.24560	T	0.032	0.13811	T	10	0.004709065	0.00099	T	0.004922	0.12380	T	0.012	0.01476	.	.	0.0401082797425	0.02173	0.04465408029003341	0.04409	0.478080639592	0.46894	0.343472421169	0.16957	T	0.015643	0.14377	T	-0.676423	0.00050	T	-0.748402	0.03548	T	0.0079625145633254	0.00094	T	0.338066	0.08996	T	0.02772	0.02005	0.026523776	0.00746	0.02772	0.02005	0.026523776	0.00746	-4.091	0.25157	T	.	.	0.059	0.01668	B	.;.	.;.	-0.533800	0.01761	0.134	0.48357759294823449	0.04029	0.07538	0.13551	N	AEFDBIJ	0.037696	0.05221	N	-1.11572954101098	0.06363	0.2926881	-1.20958980720191	0.05755	0.2751005	0.0327877246785283	0.14072	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.1	-3.03	0.05100	0.755000	0.26070	-3.146000	0.03022	0.522000	0.23927	0.001000	0.13787	0.000000	0.08366	0.039000	0.14166	0.3219:0.4777:0.2005:0.0	5.299	0.15077	911	0.21964	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4289.11	38	chr7	67018127	.	A	G	4289.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.525;DP=1070;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.99;MQRankSum=0.838;QD=11.14;ReadPosRankSum=1.56;SOR=0.679	GT:AD:DP:GQ:PL	0/1:147,143:290:99:3488,0,3673	19	0	2	0
chr7	67278813	67278813	C	T	exonic	SPDYE21	.	nonsynonymous SNV	SPDYE21:NM_001382715:exon1:c.C100T:p.R34W,	.	.	524	991	7	0	0	7	0.00351936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs202224670	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0003	0.0003	0.0003	0.0040	0.0002	0.0002	0.0026	0.0022	0	0	0.0002	0	0	0	0.0068	0.0003	0.0014	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	534.98	34	chr7	67278813	.	C	T	534.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.733;DP=773;ExcessHet=0.0000;FS=1.077;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=44.53;MQRankSum=-4.791e+00;QD=9.07;ReadPosRankSum=0.378;SOR=0.464	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr7	72807358	72807358	T	G	splicing	TYW1B	NM_001145440:exon5:c.433-2A>C	.	.	.	.	428	1090	3	1	0	5	0.00228833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	4.169e-05	0	8.672e-05	0	0	3.025e-05	0	0.0001	3.88e-05	6	154602	rs576322439	7.269e-05	7.251e-05	5.997e-05	8.556e-05	0.0024	6.129e-05	5.713e-05	0.0015	0.0012	0	6.721e-05	0	0	0	0.0024	4.418e-05	0.0002	0.0003	5.911e-05	5.906e-05	3.855e-05	8.061e-05	0.0001	3.076e-05	2.209e-05	4.765e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0322469	0.47091	T	0.00805188	0.70856	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.389830	0.67742	25.1	0.98021536041537616	0.37635	0.94552	0.61536	D	AEFBI	.	.	.	.	.	.	.	.	.	0.996788655327289	0.35006	0.099367	0.02607	0	0.104858	0.03167	0	0.137589	0.03823	0	0.089874	0.02613	0	0.795427	0.47053	2.62	2.62	0.30337	6.951000	0.75784	7.340000	0.58244	0.512000	0.23348	1.000000	0.71638	1.000000	0.68203	0.300000	0.24500	0.0:0.0:0.0:1.0	9.815	0.40014	895	0.25842	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2283.98	155	chr7	72807358	.	T	G	2283.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.470e-01;DP=3203;ExcessHet=0.0000;FS=3.643;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.71;MQRankSum=1.64;QD=9.28;ReadPosRankSum=0.608;SOR=0.920	GT:AD:DP:GQ:PL	0/0:173,0:173:99:0,120,1800	20	0	1	0
chr7	72863913	72863913	C	T	exonic	SPDYE7P	.	nonsynonymous SNV	SPDYE7P:NM_001382704:exon7:c.G740A:p.R247H,	.	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402952361	0.0004	0.0005	0.0003	0.0005	0.0046	0.0004	0.0003	0.0042	0.0041	0	0	0.0002	0.0021	3.772e-05	0.0002	3.598e-05	0.0004	0.0046	0.0005	0.0005	0.0003	0.0006	0.0083	0.0004	0.0003	0.0063	0.0055	0	0	0.0001	0.0012	0.0033	0	0	8.819e-05	0	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	295.15	63	chr7	72863913	.	C	T	295.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=703;ExcessHet=0.0000;FS=14.588;InbreedingCoeff=-0.0303;MLEAC=1;MLEAF=0.024;MQ=44.80;MQRankSum=-4.516e+00;QD=9.22;ReadPosRankSum=-2.400e-01;SOR=3.816	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1098	20	0	1	0
chr7	72943489	72943489	A	G	exonic	POM121	.	nonsynonymous SNV	POM121:NM_172020:exon12:c.A2701G:p.S901G	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.0	B	0.0	B	0.423	N	1.000	N	-1.15	N	3.71	T	-0.917	T	0.005	T	0.059	-1.225	0.060	0.978	-0.174	0.107	4.033	0.021	0.00546012293411	.	.	0.0009	0.0036	0.0002	0	0	6.083e-05	0.0011	0.0042	0.0001537	4	26028	rs1380695521	0.0004	0.0013	0.0003	0.0005	0.0034	0.0004	0.0004	0.0030	0.0029	0.0013	0.0004	3.856e-05	0.0009	7.501e-05	0.0006	0.0002	0.0005	0.0034	0.0015	0.0044	0.0014	0.0015	0.0040	0.0013	0.0012	0.0030	0.0029	0.0035	0	0.0013	0	0.0018	0.0002	0	0.0004	0.0010	0.0040	0.606	0.05918	T	0.434	0.18071	T	0.0	0.02946	B	0.0	0.01387	B	0.422657	0.12850	N	0.632230	1	0.08975	N	-0.55	0.02420	N	3.48	0.05188	T	0.09	0.06253	N	0.148	0.15046	-0.9170	0.45958	T	0.005	0.01651	T	10	0.0058024228	0.00129	T	0.00546	0.14045	T	0.021	0.04004	.	.	0.0138822411134	0.00435	0.07863447964617695	0.07798	.	.	0.404929339886	0.25754	T	0.002654	0.02045	T	-0.373035	0.03443	T	-0.773615	0.02651	T	0.000838523929588718	0.00008	T	0.0657934	0.00711	T	0.035841893	0.04295	0.030205606	0.01449	0.035841893	0.04294	0.030205606	0.01448	-3.479	0.16139	T	.	.	0.046	0.00080	B	.;.;.;.;.	.;.;.;.;.	0.882595	0.12556	9.087	0.62790535422526916	0.07053	0.00857	0.03413	N	AEFBCI	0.034025	0.04142	N	-1.55794901350863	0.01489	0.06498758	-1.50974880423192	0.02269	0.1040785	1.11452900667939E-5	0.02871	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.01	0.978	0.18859	0.169000	0.16457	1.644000	0.27808	-0.609000	0.04591	0.102000	0.22834	0.998000	0.33993	0.066000	0.16387	0.3363:0.3441:0.3196:0.0	4.033	0.09201	441	0.80015	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	82.98	39	chr7	72943489	.	A	G	82.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.30;DP=892;ExcessHet=0.0000;FS=19.594;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.59;MQRankSum=-4.062e+00;QD=1.19;ReadPosRankSum=-1.041e+00;SOR=4.161	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr7	73553638	73553638	A	C	exonic	BCL7B	.	nonsynonymous SNV	BCL7B:NM_001301061:exon2:c.T35G:p.V12G,	.	.	532	983	5	2	0	9	0.00455696	.	.	2825746	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061901	.	.	.	.	.	.	.	.	0.0041878	109	26028	rs150783798	0.0173	0.0003	0.0182	0.0166	0.0234	0.0128	0.0112	0.0168	0.0146	0	.	.	.	0.0048	0.0234	0	0.0077	0.0156	0.0038	0.0038	0.0040	0.0037	0.0098	0.0036	0.0035	0.0076	0.0068	0.0010	0	0.0050	0.0110	0	0.0007	0.0238	0.0051	0.0085	0.0098	.	.	.	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.241	0.27197	.	.	.	.	.	.	.	0.005997807	0.00135	T	.	.	.	.	.	.	.	0.259504319725	0.25562	0.14090083166857592	0.14013	.	.	.	.	.	0.394278	0.75346	T	-0.831954	0.00004	T	-0.965487	0.00217	T	.	.	.	0.572443	0.20452	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.32005	B	.	.	0.464521	0.08344	5.092	0.63466116940903872	0.07231	0.00546	0.02508	N	AEFBI	.	.	.	.	.	.	.	.	.	0.0869984702313369	0.16023	0.099367	0.02607	0	0.104858	0.03167	0	0.059349	0.00372	0	0.117559	0.03655	0	0.0519227	0.10831	0.429	0.429	0.15721	0.376000	0.20265	0.844000	0.22071	0.539000	0.25131	0.006000	0.17386	0.004000	0.18990	0.010000	0.09038	.	.	.	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	404.48	17	chr7	73553638	.	A	C	404.48	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.536;DP=313;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0583;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.98;ReadPosRankSum=-1.137e+00;SOR=1.022	GT:AD:DP:GQ:PL	0/0:11,0:11:33:0,33,387	19	0	2	0
chr7	73597302	73597302	G	A	exonic	MLXIPL	.	nonsynonymous SNV	MLXIPL:NM_032951:exon9:c.C1483T:p.P495S	.	.	402	1105	13	2	0	17	0.00763359	.	.	711104	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.077	N	0.983	N	0.695	N	2.52	T	-1.084	T	0.069	T	0.124	2.893	15.64	1.11	0.372	1.475	2.629	0.081	.	.	0.00559105	0.0078	0	0.0009	0	0	0.0004	0.0078	0.0560	0.0032729	506	154602	rs368147395	0.0018	0.0019	0.0010	0.0027	0.0286	0.0018	0.0017	0.0276	0.0272	3.053e-05	2.536e-05	0.0045	2.586e-05	0	0.0012	2.578e-05	0.0022	0.0286	0.0010	0.0010	0.0006	0.0015	0.0270	0.0009	0.0009	0.0232	0.0218	4.856e-05	0	6.589e-05	0.0058	0.0004	0	0.0034	2.947e-05	0	0.0270	0.0	0.91255	D	0.131	0.37730	T	0.969	0.68779	D	0.829	0.79672	P	0.076904	0.21135	N	0.430280	0.983435	0.24884	N	2.125	0.59049	M	2.51	0.23283	T	-1.17	0.29933	N	0.189	0.20660	-1.0840	0.06591	T	0.069	0.28147	T	10	0.0030032694	0.00049	T	.	.	.	0.081	0.23632	.	.	0.182106788282	0.17826	0.3149813321233919	0.31411	0.0963186625916	0.10868	0.477796912193	0.35754	T	0.039069	0.25061	T	-0.549449	0.00294	T	-0.539024	0.18393	T	0.0555859859478633	0.06454	T	0.713029	0.32612	T	0.09517895	0.22395	0.07232947	0.15590	0.09517895	0.22395	0.07232947	0.15590	-4.548	0.31512	T	.	.	0.087	0.11941	B	.;.;.;.;.	.;.;.;.;.	2.558262	0.33127	19.25	0.99824324060117509	0.90677	0.72846	0.35643	D	AEFDBCI	0.353582	0.44595	N	0.146426265662712	0.48642	3.074054	0.0982920687004272	0.44464	2.727589	0.0045435966677102	0.10609	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.34	1.11	0.19640	0.593000	0.23700	0.947000	0.22895	0.575000	0.29119	0.736000	0.28985	0.998000	0.33993	0.973000	0.55318	0.1078:0.1839:0.5194:0.1889	2.629	0.04640	900	0.24599	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2330.11	40	chr7	73597302	.	G	A	2330.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.038;DP=943;ExcessHet=0.1072;FS=1.904;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=2.06;SOR=0.884	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1140	19	0	2	0
chr7	74041231	74041231	C	T	exonic	ELN	.	nonsynonymous SNV	ELN:NM_001081752:exon4:c.C182T:p.A61V	Cutis laxa, AD, Autosomal dominant;Supravalvar aortic stenosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	52753	Cutis_laxa,_autosomal_dominant_1|not_provided|Supravalvar_aortic_stenosis|not_specified|ELN-related_disorder	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700,Orphanet:90348|MedGen:C3661900|Human_Phenotype_Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500,Orphanet:3193|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.39	T	0.007	B	0.002	B	.	.	1.000	N	1.78	L	1.44	T	-0.960	T	0.119	T	0.527	1.177	9.789	-3.34	-0.820	-0.132	4.639	0.187	.	0.0002	0.00439297	0.0016	9.61e-05	8.637e-05	0.0183	0.0014	0.0003	0	0.0004	0.0015394	238	154602	rs41350445	0.0008	0.0008	0.0008	0.0008	0.0227	0.0008	0.0008	0.0215	0.0210	8.964e-05	0.0003	0	0.0227	0.0006	0.0007	0.0001	0.0007	0.0005	0.0010	0.0010	0.0009	0.0011	0.0195	0.0009	0.0008	0.0164	0.0153	4.812e-05	0	0.0001	0	0.0195	0.0014	0	0.0004	0	0.0008	0.43	0.28026	T	0.096	0.41405	T	0.007	0.14184	B	0.001	0.06944	B	.	.	.	.	1	0.08975	N	1.59	0.40313	L	1.44	0.77964	T	-0.51	0.27259	N	0.197	0.32812	-0.9599	0.39199	T	0.119	0.41626	T	9	0.003741473	0.00070	T	.	.	.	0.187	0.46274	.	.	0.438278051908	0.43446	0.3579927621095385	0.35713	0.181497681032	0.20404	0.463629335165	0.33809	T	0.08636	0.52846	T	-0.372322	0.03478	T	-0.293311	0.45427	T	0.00775844697461373	0.00091	T	0.524448	0.21111	T	0.017957756	0.00318	0.048910998	0.07364	0.01952172	0.00484	0.037396826	0.03382	-5.614	0.49744	T	.	.	0.123	0.42346	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	0.644343	0.10126	6.873	0.73088284792513813	0.10202	0.03067	0.07975	N	AEFBI	0.095733	0.19338	N	-1.76419145436534	0.00639	0.02755018	-1.86310248909828	0.00578	0.02564035	0.997701365370426	0.35927	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	3.11	-3.34	0.04635	-0.039000	0.12076	-0.741000	0.07619	-3.044000	0.00133	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3025:0.2569:0.4406	4.639	0.11923	934	0.15400	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	1925.98	36	chr7	74041231	.	C	T	1925.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=869;ExcessHet=0.0000;FS=2.188;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=-1.618e+00;SOR=0.952	GT:AD:DP:GQ:PL	0/1:71,71:142:99:1940,0,1765	20	0	1	0
chr7	74317562	74317562	G	A	exonic	CLIP2	.	nonsynonymous SNV	CLIP2:NM_003388:exon2:c.G16A:p.G6S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	0.995	D	0.895	L	0.12	T	-0.456	T	0.295	T	0.548	4.482	24.0	4.52	2.340	4.642	12.629	0.300	0.0579230643165	.	.	1.83e-05	0	0	0.0001	0	0	0	0.0001	1.29e-05	2	154602	rs782141623	6.119e-06	1.026e-05	4.52e-06	7.767e-06	3.028e-05	2.63e-06	1.9e-06	1.42e-06	1.03e-06	0	0	0	3.028e-05	0	0	4.855e-06	1.893e-05	1.565e-05	1.971e-05	1.97e-05	1.284e-05	2.69e-05	6.554e-05	5.24e-06	2.45e-06	.	.	2.412e-05	0	6.554e-05	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000351	0.45440	D	0.145347	0.994677	0.42372	D	1.04	0.26193	L	0.12	0.64445	T	-4.64	0.79316	D	0.582	0.63968	-0.4561	0.70198	T	0.295	0.66669	T	10	0.5254468	0.62882	D	0.057923	0.67138	D	0.300	0.62068	0.363	0.36874	0.882010386689	0.88085	0.45163436427245024	0.45081	1.71623382196	0.90501	0.75788384676	0.75614	T	0.605309	0.87410	D	0.0493776	0.58263	T	-0.166849	0.57732	T	0.928459763526917	0.59191	D	0.985301	0.94937	D	0.81613624	0.84961	0.7005456	0.82356	0.81613624	0.84962	0.7005456	0.82357	-6.351	0.49665	T	.	.	0.204	0.63820	B	.;.;.	.;.;.	4.691758	0.75187	26.3	0.99891079351428758	0.96513	0.85641	0.44796	D	AEFDBI	0.564809	0.57144	D	0.542551145197387	0.69628	5.384307	0.540079808416736	0.70710	5.545373	0.998816090908349	0.37733	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.52	4.52	0.54797	4.643000	0.61085	11.701000	0.94500	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	12.629	0.56006	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1300.98	36	chr7	74317562	.	G	A	1300.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.676;DP=803;ExcessHet=0.0000;FS=0.778;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=-1.140e-01;SOR=0.542	GT:AD:DP:GQ:PL	0/1:51,51:102:99:1315,0,1200	20	0	1	0
chr7	74338861	74338861	C	T	exonic	CLIP2	.	nonsynonymous SNV	CLIP2:NM_003388:exon3:c.C535T:p.P179S	.	.	430	1063	26	3	0	32	0.0148285	.	.	700213	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.64	T	0.007	B	0.016	B	0.000	D	1.000	D	0.345	N	-0.74	T	-0.838	T	0.210	T	0.199	3.047	16.17	4.92	2.578	7.406	16.914	0.143	.	0.0032	0.00459265	0.0046	0.0012	0.0027	0.0002	0.0003	0.0049	0.0108	0.0099	0.0043014	665	154602	rs61739991	0.0042	0.0042	0.0039	0.0046	0.0123	0.0041	0.0041	0.0100	0.0094	0.0005	0.0032	0.0044	0.0005	0.0004	0.0123	0.0041	0.0050	0.0102	0.0032	0.0032	0.0032	0.0031	0.0116	0.0029	0.0029	0.0092	0.0083	0.0010	0	0.0030	0.0049	0.0006	0.0003	0.0136	0.0045	0.0038	0.0116	0.07	0.35349	T	0.055	0.52060	T	0.007	0.14184	B	0.016	0.17743	B	0.000404	0.44736	D	0.150290	0.999984	0.54805	D	0.695	0.17993	N	-0.74	0.73205	T	-1.74	0.41239	N	0.344	0.40565	-0.8381	0.52773	T	0.210	0.56946	T	10	0.0058303773	0.00130	T	.	.	.	0.143	0.38195	.	.	0.434057395736	0.43027	0.6033479092388576	0.60265	0.7593053508	0.64165	0.618176221848	0.55472	T	0.100807	0.40697	T	-0.41675	0.01795	T	-0.363447	0.37653	T	0.0227129971421767	0.00990	T	0.79822	0.44736	T	0.066992566	0.14466	0.09611729	0.22824	0.066992566	0.14465	0.09611729	0.22824	-1.478	0.01783	T	.	.	0.073	0.10208	B	.;.;.	.;.;.	3.079231	0.41422	21.4	0.99525916157939909	0.69530	0.98437	0.82768	D	AEFDBCIJ	0.799496	0.72574	D	-0.276975217780625	0.30041	1.67133	-0.0949209573397272	0.35600	2.061546	0.999999999999923	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.92	4.92	0.64147	4.702000	0.61504	4.757000	0.44693	0.596000	0.33519	0.998000	0.41325	1.000000	0.68203	0.391000	0.26581	0.0:1.0:0.0:0.0	16.914	0.86014	911	0.21964	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	4957.68	85	chr7	74338861	.	C	T	4957.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.163;DP=1599;ExcessHet=0.3300;FS=0.517;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=0.389;SOR=0.652	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1317	18	0	3	0
chr7	74748018	74748018	-	TAA	exonic	GTF2I	.	nonframeshift insertion	GTF2I:NM_001518:exon22:c.1949_1950insTAA:p.N654_P655insN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	.	.	.	0	.	0	3.84e-05	1	26028	rs782320436	0.0027	0.0011	0.0012	0.0039	0.0130	0.0024	0.0023	0.0118	0.0113	0	0	0	0	0	0	4.949e-05	0.0010	0.0130	0	0.0005	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	69.94	1	chr7	74748018	.	C	CTAA	69.94	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.967;DP=55;ExcessHet=0.0000;FS=4.771;InbreedingCoeff=-0.1163;MLEAC=1;MLEAF=0.028;MQ=30.82;MQRankSum=0.431;QD=23.31;ReadPosRankSum=0.00;SOR=2.225	GT:AD:DP:GQ:PL	0/0:4,0:4:12:0,12,141	17	0	1	3
chr7	74779296	74779296	G	A	exonic	NCF1	.	nonsynonymous SNV	NCF1:NM_000265:exon4:c.G269A:p.R90H,	Chronic granulomatous disease due to deficiency of NCF-1, Autosomal recessive	YES	2	1502	14	4	0	22	0.00727032	.	.	1287300	Granulomatous_disease,_chronic,_X-linked|not_provided|Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_1	MONDO:MONDO:0010600,MedGen:C1844376,OMIM:306400,Orphanet:379|MedGen:C3661900|MONDO:MONDO:0009309,MedGen:C1856251,OMIM:233700,Orphanet:379	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.786	P	0.172	B	0.000	D	1.000	D	3.635	H	-2.17	D	0.565	D	0.668	D	0.652	3.318	17.16	3.38	1.631	7.168	14.142	0.794	0.474966757152	.	.	0.0010	0.0023	0.0005	0.0035	0.0010	0.0008	0.0024	0.0004	0.0009896	153	154602	rs201802880	0.0002	0.0008	8.33e-05	0.0002	0.0015	0.0001	0.0001	0.0013	0.0012	0.0003	0.0001	0	0.0011	0.0002	0.0002	1.53e-05	0.0001	0.0015	0.0005	0.0026	0.0004	0.0005	0.0011	0.0004	0.0003	0.0008	0.0007	0.0011	0	0.0003	0.0003	0.0004	9.87e-05	0	0.0001	0.0020	0.0011	0.029	0.45756	D	0.002	0.79402	D	0.786	0.44460	P	0.172	0.35394	B	0.000003	0.62929	D	0.051113	1	0.81001	D	3.335	0.90898	M	-2.17	0.86624	D	-4.24	0.76015	D	0.672	0.67995	0.565	0.91440	D	0.668	0.88490	D	10	0.066622585	0.09164	T	0.474967	0.94744	D	0.794	0.93227	.	.	0.916221141918	0.91538	0.8084570979808826	0.80800	.	.	0.641775965691	0.58817	T	0.442933	0.78691	T	0.215827	0.75381	D	0.0722445	0.75060	D	0.105522214803748	0.12953	T	0.79652	0.44001	T	0.65046906	0.75389	0.49485186	0.70785	0.65046906	0.75390	0.49485186	0.70785	-11.335	0.81463	D	0.6315129122151859	0.70097	0.334	0.55521	B	.	.	4.519268	0.70844	25.6	0.99859784191756595	0.93820	0.96319	0.68558	D	AEFI	0.904555	0.85500	D	0.309306367838002	0.56624	3.82752	0.28228216539751	0.54503	3.615292	0.99180166495867	0.32614	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.38	3.38	0.37806	7.271000	0.77894	9.449000	0.80847	0.557000	0.28285	1.000000	0.71638	1.000000	0.68203	0.540000	0.29938	0.0:0.0:1.0:0.0	14.142	0.64858	958	0.09170	Phox homologous domain|Phox homologous domain|Phox homologous domain|Neutrophil cytosol factor 1, PX domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	59.1	49	chr7	74779296	.	G	A	59.1	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.63;DP=870;ExcessHet=0.1072;FS=47.612;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=45.14;MQRankSum=-5.209e+00;QD=0.33;ReadPosRankSum=-2.007e+00;SOR=5.714	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1318	19	0	2	0
chr7	75120909	75120909	G	A	exonic	GTF2IRD2B	.	nonsynonymous SNV	GTF2IRD2B:NM_001003795:exon4:c.G257A:p.C86Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.009	B	0.005	B	.	.	1.000	N	0	N	3.01	T	-1.039	T	0.046	T	0.118	-0.541	1.545	-1.66	-0.375	-0.613	4.064	0.013	0.013047206994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.421e-06	4.104e-06	0	6.877e-06	5.798e-05	1e-06	7.3e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	0	5.798e-05	0	6.567e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.856	0.26226	T	0.009	0.15093	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	.	.	.	0.112	0.13626	-1.0392	0.17556	T	0.046	0.19760	T	9	0.06656656	0.09150	T	0.013047	0.32145	T	.	.	0.327	0.31034	0.0551355673512	0.04727	0.05098949977901621	0.05040	.	.	0.260815143585	0.04988	T	0.009617	0.08746	T	-0.369794	0.03605	T	-0.646416	0.09207	T	0.0168608027791443	0.00439	T	0.244176	0.03564	T	0.07443642	0.16705	0.09558755	0.22678	0.07443642	0.16704	0.09558755	0.22678	-4.889	0.35611	T	.	.	0.077	0.06571	B	.;.;.	.;.;.	-0.293154	0.02648	0.336	0.28683291479401662	0.01485	0.00433	0.02120	N	AEFI	0.018941	0.00615	N	-1.16017086053113	0.05615	0.2564182	-1.20985896368589	0.05750	0.2748825	1.50015515183902E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	3.82	-1.66	0.07824	-0.516000	0.06367	-1.043000	0.06508	0.447000	0.21209	0.000000	0.06391	0.000000	0.08366	0.050000	0.15192	0.2868:0.3915:0.3217:0.0	4.064	0.09331	929	0.16858	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2498.98	35	chr7	75120909	.	G	A	2498.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.400e-01;DP=1076;ExcessHet=0.0000;FS=0.396;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=40.25;MQRankSum=-1.200e-01;QD=6.79;ReadPosRankSum=-6.490e-01;SOR=0.659	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1296	20	0	1	0
chr7	75422276	75422276	G	A	exonic	POM121C	.	nonsynonymous SNV	POM121C:NM_001099415:exon13:c.C1976T:p.T659I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.95	P	0.648	P	0.489	N	0.815	N	1.955	M	3.41	T	-0.993	T	0.075	T	0.177	1.179	9.794	-0.402	-0.244	2.081	11.562	0.126	0.032511213841	.	.	0	0	0	0	0	0	0	0	.	.	.	rs782033883	1.645e-05	1.779e-05	8.182e-06	2.48e-05	0.0002	1.113e-05	9.35e-06	9.803e-05	7.847e-05	0	0	0	0	0	0	8.996e-06	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.76473	D	0.95	0.53885	P	0.648	0.52381	P	0.489344	0.12075	N	0.670270	0.946569	0.28949	N	.	.	.	.	.	.	.	.	.	0.238	0.26837	-0.9926	0.31933	T	0.075	0.30303	T	10	0.11365357	0.21359	T	0.032511	0.54314	D	.	.	0.218	0.13932	0.0611884634855	0.05136	0.10642934345243635	0.10572	.	.	0.514695882797	0.40880	T	0.104134	0.41343	T	-0.34852	0.04820	T	-0.439464	0.28869	T	0.162125053882651	0.18027	T	0.727427	0.34191	T	0.017348988	0.00265	0.048926517	0.07371	0.017348988	0.00265	0.048926517	0.07371	-6.291	0.48650	T	.	.	0.189	0.43130	B	.;.	.;.	1.697883	0.21627	15.28	0.94817865371783527	0.25584	0.67968	0.33626	D	AEFI	0.153641	0.27853	N	-0.586288526232909	0.19360	1.012633	-0.794513007982405	0.14630	0.7653851	1.13774854273706E-5	0.02871	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	2.86	-0.402	0.11786	2.057000	0.40991	2.040000	0.30295	-1.613000	0.00878	0.717000	0.28791	0.769000	0.26685	0.001000	0.02609	0.0:0.5405:0.4595:0.0	11.562	0.50033	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	439.98	39	chr7	75422276	.	G	A	439.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.766;DP=878;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.10;MQRankSum=-1.618e+00;QD=5.43;ReadPosRankSum=0.629;SOR=0.734	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,111,1665	20	0	1	0
chr7	75441099	75441099	T	A	exonic	POM121C	.	nonsynonymous SNV	POM121C:NM_001099415:exon5:c.A82T:p.S28C,	.	.	435	1064	23	0	0	23	0.0106927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.846	P	0.673	N	1.000	N	1.67	L	3.57	T	-1.043	T	0.073	T	0.219	1.810	12.01	-0.241	0.109	0.155	3.087	0.017	0.011500902084	0.0025	0.000998403	0.0031	0.0003	0.0010	0	0.0012	0.0031	0.0033	0.0083	0.0029883	462	154602	rs200580506	0.0038	0.0038	0.0038	0.0038	0.0092	0.0037	0.0037	0.0087	0.0085	0.0004	0.0011	0.0003	2.519e-05	0.0018	0.0045	0.0039	0.0039	0.0092	0.0026	0.0026	0.0024	0.0028	0.0081	0.0024	0.0023	0.0061	0.0054	0.0007	0.0011	0.0037	0.0003	0	0.0008	0.0068	0.0037	0.0033	0.0081	0.022	0.48642	D	0.011	0.64786	D	0.997	0.70673	D	0.846	0.60472	P	0.672774	0.10326	N	0.800095	1	0.08975	N	2.28	0.64929	M	.	.	.	-4.17	0.75456	D	0.36	0.40164	-1.0427	0.16503	T	0.073	0.29675	T	10	0.0052847266	0.00115	T	0.011501	0.29187	T	0.017	0.02790	.	.	0.141422826196	0.13715	0.1468979519249331	0.14611	.	.	0.28328332305	0.07954	T	0.046382	0.27407	T	-0.453359	0.01079	T	-0.41774	0.31336	T	0.050920939457859	0.05661	T	0.579042	0.24084	T	0.10643525	0.25167	0.064794235	0.13040	0.10643525	0.25167	0.064794235	0.13039	-6.12	0.49642	T	.	.	0.094	0.30765	B	.;.;.	.;.;.	3.113433	0.42004	21.5	0.89714575594388579	0.19036	0.10357	0.15886	N	AEFBI	0.038759	0.05532	N	-0.223458958021369	0.32173	1.811602	-0.423229732347967	0.24317	1.330954	0.999398842108212	0.39470	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	4.27	-0.241	0.12399	0.150000	0.16082	2.241000	0.31611	0.640000	0.52149	0.027000	0.20232	0.776000	0.26740	0.989000	0.64315	0.1784:0.2126:0.0:0.609	3.087	0.05904	912	0.21483	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1889.98	35	chr7	75441099	.	T	A	1889.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.270e-01;DP=1227;ExcessHet=0.0000;FS=4.996;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.99;MQRankSum=0.524;QD=13.22;ReadPosRankSum=1.63;SOR=0.413	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr7	75494103	75494103	C	T	exonic	SPDYE5	.	nonsynonymous SNV	SPDYE5:NM_001306141:exon1:c.C56T:p.T19M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs370679066	1.735e-05	1.779e-05	1.998e-05	1.465e-05	0.0001	1.174e-05	9.87e-06	5.455e-05	3.563e-05	6.345e-05	0.0001	0	0	0	0	1.39e-05	3.461e-05	0	0.0001	0.0001	6.431e-05	0.0002	0.0009	8.678e-05	7.267e-05	0.0006	0.0004	0.0001	0	0.0009	0	0	0	0	0	0	0	.	.	.	0.683	0.06052	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.07811	.	.	.	.	.	.	.	0.054041654	0.05692	T	.	.	.	.	.	.	.	0.0482279557977	0.04254	0.09492469075696154	0.09424	.	.	.	.	.	.	.	.	-0.551056	0.00287	T	-1.02933	0.00091	T	.	.	.	0.472453	0.14032	T	0.03612382	0.04384	0.087640025	0.20384	0.03612382	0.04384	0.087640025	0.20383	-4.863	0.35317	T	.	.	0.075	0.07937	B	.;.	.;.	-0.957906	0.00833	0.028	0.67514338957153119	0.08377	0.00008	0.00134	N	AEFI	.	.	.	.	.	.	.	.	.	3.61477705427234E-5	0.03775	0.162113	0.03585	0	0.105846	0.03286	0	0.175069	0.04249	0	0.082385	0.02281	0	0.049175	0.08855	0.453	0.453	0.15851	-0.004000	0.12813	0.272000	0.16669	-1.105000	0.01501	0.024000	0.20007	0.002000	0.18203	0.008000	0.08271	.	.	.	895	0.25842	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	372.98	47	chr7	75494103	.	C	T	372.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.150;DP=857;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.17;MQRankSum=-3.470e-01;QD=6.66;ReadPosRankSum=-9.580e-01;SOR=0.635	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1347	20	0	1	0
chr7	75987124	75987124	A	G	exonic	TMEM120A	.	nonsynonymous SNV	TMEM120A:NM_001317803:exon12:c.T1018C:p.C340R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	0.41162	.	.	.	.	.	.	.	0.12496185	0.23740	T	.	.	.	.	.	.	.	0.184867976434	0.18130	0.45341399505614355	0.45259	.	.	.	.	.	.	.	.	-0.430762	0.01467	T	-0.856536	0.00881	T	.	.	.	0.183282	0.01882	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.10256	B	.	.	0.565066	0.09335	6.117	0.72984572038829854	0.10166	0.03531	0.08721	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.563103715132154	0.21430	0.295142	0.05270	0	0.271743	0.05004	0	0.320204	0.05785	0	0.322829	0.05601	0	0.144799	0.27030	3.24	-2.61	0.05811	0.088000	0.14821	-1.909000	0.04513	-0.572000	0.04779	0.001000	0.13787	0.000000	0.08366	0.036000	0.13842	0.1794:0.5976:0.1096:0.1134	4.479	0.11172	601	0.67921	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1459.98	35	chr7	75987124	.	A	G	1459.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.730e+00;DP=865;ExcessHet=0.0000;FS=1.533;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.27;ReadPosRankSum=0.338;SOR=0.860	GT:AD:DP:GQ:PL	0/1:48,62:110:99:1474,0,1248	20	0	1	0
chr7	75987922	75987922	C	A	splicing	TMEM120A	NM_031925:exon8:c.691+1G>T;NM_001317803:exon8:c.691+1G>T;NM_001363462:exon7:c.794+1G>T	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.310573	0.83789	D	0.20834	0.83579	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	6.059350	0.94461	34	0.99147864305022659	0.53737	0.98013	0.78872	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999990251921	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.068591	0.01938	0	0.117559	0.03655	0	0.972978	0.75373	3.41	3.41	0.38145	6.093000	0.71069	7.611000	0.61914	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	15.077	0.71751	602	0.67834	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2451.98	48	chr7	75987922	.	C	A	2451.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=1041;ExcessHet=0.0000;FS=0.538;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=-4.200e-01;SOR=0.637	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr7	75989196	75989196	C	T	exonic	TMEM120A	.	nonsynonymous SNV	TMEM120A:NM_001317803:exon4:c.G346A:p.V116I	.	.	431	1084	5	2	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0023	0	0	0.0041	0	9.553e-05	0	0.0059	0.0005239	81	154602	rs531304901	0.0004	0.0004	0.0003	0.0006	0.0051	0.0004	0.0004	0.0047	0.0046	0	8.209e-05	0	0.0005	0	0.0023	9.243e-05	0.0005	0.0051	0.0002	0.0002	0.0001	0.0003	0.0034	0.0001	0.0001	0.0020	0.0016	2.622e-05	0	0	0	0.0011	0.0001	0	6.763e-05	0	0.0034	.	.	.	0.156	0.52389	T	0.981	0.59675	D	0.733	0.55393	P	.	.	.	.	.	.	.	2.9	0.83903	M	.	.	.	.	.	.	0.248	0.37509	.	.	.	.	.	.	.	0.009519905	0.00215	T	.	.	.	.	.	.	.	0.0954503805726	0.09146	0.2224434783727143	0.22159	.	.	0.782080292702	0.79241	T	0.015745	0.32609	T	-0.131711	0.31220	T	0.0393965	0.72888	D	.	.	.	0.883212	0.65969	D	0.07566846	0.17063	0.3451593	0.60203	0.07566846	0.17063	0.3451593	0.60202	-5.943	0.45800	T	.	.	0.137	0.37482	B	.;.;.	.;.;.	4.407067	0.68149	25.2	0.95900469956099166	0.28128	0.96383	0.68870	D	AEFDBIJ	0.838155	0.75571	D	.	.	.	.	.	.	0.999999999933174	0.74766	0.252514	0.04256	0	0.33876	0.05854	1	0.25174	0.05106	0	0.293034	0.05479	0	.	.	3.87	3.87	0.43823	4.294000	0.58840	3.292000	0.37313	0.582000	0.30178	1.000000	0.71638	0.998000	0.33993	0.892000	0.42986	0.0:1.0:0.0:0.0	15.404	0.74588	602	0.67834	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	708.11	34	chr7	75989196	.	C	T	708.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.02;DP=646;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.64;ReadPosRankSum=-7.170e-01;SOR=0.793	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,981	19	0	2	0
chr7	75992253	75992253	G	T	exonic	TMEM120A	.	nonsynonymous SNV	TMEM120A:NM_001317803:exon3:c.C208A:p.P70T	.	.	416	1092	13	1	0	15	0.00682128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0103834	0.0048	0	0.0003	0.0026	0	1.546e-05	0.0023	0.0366	0.0041332	639	154602	rs149750507	0.0022	0.0022	0.0014	0.0030	0.0318	0.0021	0.0021	0.0308	0.0304	0	9.191e-05	0	0.0052	0	0.0019	2.437e-05	0.0028	0.0318	0.0013	0.0013	0.0008	0.0018	0.0357	0.0011	0.0011	0.0314	0.0297	4.817e-05	0	0	0	0.0027	0	0	2.942e-05	0.0009	0.0357	.	.	.	0.526	0.17696	T	0.002	0.09854	B	0.008	0.13708	B	.	.	.	.	.	.	.	-0.315	0.03579	N	.	.	.	.	.	.	0.095	0.09772	.	.	.	.	.	.	.	0.0015527904	0.00018	T	.	.	.	.	.	.	.	0.209622950755	0.20551	0.10908756623488873	0.10837	.	.	0.253118813038	0.04104	T	0.014729	0.17603	T	-0.488318	0.00664	T	-0.449837	0.27716	T	.	.	.	0.672333	0.28129	T	0.059560627	0.12120	0.15561879	0.36470	0.059560627	0.12120	0.15561879	0.36470	-3.646	0.18524	T	.	.	0.065	0.03661	B	.;.;.;.	.;.;.;.	1.791173	0.22766	15.75	0.89020396470702079	0.18445	0.13887	0.18106	N	AEFDBCI	0.303518	0.41147	N	.	.	.	.	.	.	0.998207251632363	0.36574	0.295142	0.05270	0	0.27691	0.05143	1	0.295636	0.05589	0	0.322829	0.05601	0	.	.	4.63	1.53	0.22224	-0.107000	0.10843	1.465000	0.26711	-0.159000	0.11634	0.026000	0.20160	1.000000	0.68203	0.951000	0.49849	0.1724:0.2555:0.4251:0.1469	2.183	0.03643	603	0.67726	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	284.98	40	chr7	75992253	.	G	T	284.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.560e-01;DP=703;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.12;ReadPosRankSum=-7.940e-01;SOR=0.807	GT:AD:DP:GQ:PL	0/0:34,0:34:64:0,64,1040	20	0	1	0
chr7	76058025	76058025	G	T	exonic	MDH2	.	nonsynonymous SNV	MDH2:NM_001282404:exon3:c.G55T:p.A19S	Epileptic encephalopathy, early infantile, 51, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2467958	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.19	T	0.017	B	0.049	B	0.004	N	1.000	N	1.235	L	1.02	T	-0.630	T	0.430	T	0.168	1.757	11.83	1.64	0.433	1.617	5.232	0.026	0.0692402039338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	1.368e-06	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	1.97e-05	1.969e-05	1.285e-05	2.685e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.387e-05	0	0	0	0	0.0006	0	0	0	0	0	0.218	0.26740	T	0.463	0.14412	T	0.012	0.16265	B	0.049	0.25116	B	0.003564	0.34767	N	0.359607	0.999937	0.19363	N	1.07	0.27075	L	1.02	0.87750	T	0.27	0.04613	N	0.177	0.21319	-0.6305	0.63549	T	0.430	0.77193	T	10	0.12916055	0.24573	T	0.06924	0.70675	D	0.026	0.05648	0.453	0.51612	0.838385003735	0.83683	0.3222727092827486	0.32140	0.163663304052	0.18455	0.423031628132	0.28253	T	0.256252	0.62714	T	-0.0439099	0.45366	T	-0.30085	0.44635	T	0.138159334659576	0.16115	T	0.694431	0.32034	T	0.034268145	0.03813	0.04546862	0.06123	0.034268145	0.03812	0.04546862	0.06122	-2.522	0.07593	T	0.10954978046691156	0.09158	0.083	0.10787	B	.;.;.	.;.;.	1.526401	0.19590	14.34	0.94915292328264345	0.25783	0.81728	0.41074	D	AEFDBCIJ	0.592041	0.58790	D	-0.634058847184868	0.17928	0.926702	-0.559099048543837	0.20564	1.108521	0.998997901027343	0.38161	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.56	1.64	0.22949	1.685000	0.37277	3.376000	0.37968	-0.114000	0.14653	0.954000	0.33273	0.998000	0.33993	0.732000	0.35165	0.2004:0.0:0.5392:0.2605	5.232	0.14744	616	0.66398	Lactate/malate dehydrogenase, N-terminal;Lactate/malate dehydrogenase, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1289.98	36	chr7	76058025	.	G	T	1289.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.690e-01;DP=840;ExcessHet=0.0000;FS=0.662;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.40;ReadPosRankSum=-2.183e+00;SOR=0.769	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1320	20	0	1	0
chr7	76235214	76235214	G	A	exonic	SRRM3	.	nonsynonymous SNV	SRRM3:NM_001110199:exon2:c.G148A:p.A50T	.	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.968	D	0.000	D	0.973	D	0.895	L	.	.	-0.459	T	0.269	T	0.334	4.725	26.3	4.63	2.153	4.486	16.119	0.188	0.0636122733647	.	0.00159744	0.0018	0	0.0019	0	0	0	0	0.0043	0.0003881	60	154602	rs530430404	0.0002	0.0002	0.0001	0.0003	0.0040	0.0002	0.0002	0.0037	0.0035	0	2.689e-05	0	0	0	0	9.179e-07	0.0002	0.0040	0.0001	0.0001	8.992e-05	0.0001	0.0035	7.084e-05	5.742e-05	0.0022	0.0018	0	0	0	0	0	0	0	0	0	0.0035	.	.	.	0.126	0.35205	T	.	.	.	.	.	.	0.000218	0.47681	D	0.000000	0.972798	0.38974	D	.	.	.	.	.	.	.	.	.	0.312	0.35194	-0.4590	0.70101	T	0.269	0.64077	T	9	0.00849843	0.00193	T	0.063612	0.69022	D	.	.	.	.	0.043077524339	0.03247	0.6580226204664619	0.65739	.	.	0.845474243164	0.88930	D	.	.	.	-0.341831	0.05262	T	-0.265898	0.48233	T	0.11180255689443	0.13608	T	0.940606	0.77652	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.731	0.74249	P	.	.	5.301380	0.89001	29.8	0.99902204930454752	0.97350	0.80550	0.40158	D	ALL	0.555854	0.56612	D	0.474456436466931	0.65603	4.84333	0.46750038872442	0.65848	4.875949	0.999999999998584	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.239995	0.05000	1	0.603991	0.37454	0	.	.	4.63	4.63	0.57175	4.645000	0.61100	9.667000	0.81209	0.525000	0.24333	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:0.0:1.0:0.0	16.119	0.81135	716	0.55970	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2271.11	40	chr7	76235214	.	G	A	2271.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.81;DP=836;ExcessHet=0.1072;FS=0.578;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.93;ReadPosRankSum=1.12;SOR=0.760	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1083	19	0	2	0
chr7	76393414	76393414	G	A	exonic	SSC4D	.	nonsynonymous SNV	SSC4D:NM_080744:exon9:c.C1324T:p.L442F,	.	.	416	1065	39	2	0	43	0.0197883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.824	P	0.529	P	0.018	N	0.999	N	1.275	L	1.28	T	-1.061	T	0.068	T	0.141	3.077	16.28	-0.744	-0.031	0.777	2.848	0.072	.	0.0015	0.00519169	0.0120	0.0027	0.0084	0.0034	0.0015	0.0059	0.0402	0.0648	0.0032535	503	154602	rs142875026	0.0032	0.0032	0.0026	0.0038	0.0203	0.0031	0.0031	0.0194	0.0190	0.0011	0.0013	0.0077	0.0005	0.0005	0.0104	0.0021	0.0042	0.0203	0.0027	0.0027	0.0023	0.0031	0.0211	0.0025	0.0024	0.0178	0.0166	0.0012	0	0.0012	0.0124	0.0008	0.0008	0.0034	0.0026	0.0033	0.0211	0.004	0.65419	D	0.004	0.74150	D	0.824	0.45836	P	0.529	0.48508	P	0.017798	0.27636	N	0.291939	0.999303	0.21385	N	0.74	0.18910	N	1.28	0.35960	T	-1.75	0.41428	N	0.144	0.14480	-1.0609	0.11532	T	0.068	0.28047	T	10	0.0063617527	0.00144	T	.	.	.	0.072	0.21020	.	.	0.16115917748	0.15686	0.19340891850199898	0.19258	1.17278898056	0.79810	0.802709519863	0.82377	T	0.067495	0.33216	T	-0.534462	0.00361	T	-0.524237	0.19865	T	0.0894524413666828	0.11152	T	0.730627	0.34608	T	0.24573545	0.47535	0.24026094	0.49395	0.24573545	0.47534	0.24026094	0.49394	-7.439	0.57180	T	.	.	0.132	0.28406	B	.	.	3.417281	0.47432	22.5	0.97988988016776746	0.37386	0.64767	0.32514	D	ALL	0.249620	0.36982	N	-0.619625405610369	0.18355	0.9522991	-0.772224593496796	0.15177	0.7969113	0.999999999945208	0.74766	0.441713	0.08003	0	0.166054	0.03914	2	0.52208	0.10781	0	0.249971	0.05119	0	.	.	5.28	-0.744	0.10542	1.015000	0.29565	2.184000	0.31153	0.560000	0.28382	0.637000	0.28059	0.999000	0.35428	0.835000	0.39381	0.1572:0.0973:0.211:0.5345	2.848	0.05209	866	0.32446	SRCR domain|SRCR domain|SRCR-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	532.98	33	chr7	76393414	.	G	A	532.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.187;DP=629;ExcessHet=0.0000;FS=8.232;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.66;ReadPosRankSum=-1.694e+00;SOR=1.640	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	20	0	1	0
chr7	76429540	76429540	G	A	exonic	ZP3	.	nonsynonymous SNV	ZP3:NM_001110354:exon2:c.G338A:p.S113N	.	.	429	1078	15	0	0	15	0.00690926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.785	P	0.495	P	0.567	N	1.000	D	2.76	M	-1.69	D	0.291	D	0.641	D	0.291	3.431	17.60	5.21	2.444	2.185	16.244	0.467	.	.	0.0161741	0.0066	0	0.0004	0.0014	0	3.001e-05	0.0033	0.0470	0.0058473	904	154602	rs140906109	0.0030	0.0030	0.0018	0.0043	0.0463	0.0030	0.0029	0.0451	0.0446	0.0001	0.0002	0	0.0049	0	0.0029	2.248e-05	0.0033	0.0463	0.0018	0.0019	0.0011	0.0027	0.0522	0.0017	0.0016	0.0469	0.0448	4.816e-05	0	0.0004	0	0.0029	0	0	2.941e-05	0.0019	0.0522	0.036	0.45393	D	0.032	0.53426	D	0.029	0.44430	B	0.037	0.47504	B	0.567316	0.11274	N	0.802830	0.994204	0.81001	D	3.12	0.87914	M	-1.69	0.82985	D	-1.43	0.35399	N	0.47	0.53532	0.291	0.87409	D	0.641	0.87461	D	10	0.008418739	0.00191	T	.	.	.	0.467	0.76222	.	.	0.791705908529	0.78977	0.772612362208062	0.77211	0.0221848989643	0.02225	0.444870829582	0.31243	T	0.462823	0.79903	T	-0.325309	0.06472	T	-0.20648	0.54031	T	0.0540429833937973	0.06196	T	0.643236	0.25495	T	0.22360739	0.44985	0.22723378	0.47727	0.2635537	0.49420	0.22723378	0.47726	-6.049	0.50417	T	0.4782862898648039	0.55742	0.159	0.41587	B	.;.	.;.	2.908676	0.38574	20.8	0.9952137729742988	0.69284	0.85141	0.44249	D	AEFDBCI	0.265783	0.38284	N	0.292174853981769	0.55753	3.739262	0.344972444976681	0.58206	3.989742	0.999999519705573	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.608075	0.38828	0	0.567892	0.33627	0	.	.	5.21	5.21	0.72005	1.435000	0.34578	2.563000	0.33324	0.676000	0.76740	0.959000	0.33545	0.999000	0.35428	0.907000	0.44265	0.0:0.0:1.0:0.0	16.244	0.82257	886	0.28090	.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain|Zona pellucida domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2252.98	181	chr7	76429540	.	G	A	2252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.94;DP=967;ExcessHet=0.0000;FS=1.845;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=-2.458e+00;SOR=0.879	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr7	76441955	76441955	G	A	exonic	ZP3	.	nonsynonymous SNV	ZP3:NM_001110354:exon8:c.G1174A:p.V392I	.	.	443	1039	36	4	0	44	0.0207352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.0	B	0.0	B	0.157	N	1.000	N	-0.805	N	2.65	T	-1.042	T	0.017	T	0.168	0.255	5.377	-6.44	-1.337	-1.844	0.234	0.080	.	0.0005	0.00738818	0.0111	0.0028	0.0055	0.0031	0.0041	0.0077	0.0101	0.0351	0.0018057	47	26028	rs201251126	0.0043	0.0043	0.0036	0.0051	0.0222	0.0042	0.0042	0.0214	0.0210	0.0035	0.0022	0.0185	0.0008	0.0012	0.0113	0.0028	0.0066	0.0222	0.0039	0.0042	0.0035	0.0043	0.0198	0.0036	0.0035	0.0163	0.0151	0.0031	0	0.0033	0.0252	0.0011	0.0016	0.0069	0.0030	0.0038	0.0198	0.327	0.18184	T	0.276	0.23029	T	0.0	0.02946	B	0.0	0.01387	B	0.157266	0.03010	N	3.060610	1	0.08975	N	-0.55	0.02420	N	2.43	0.24472	T	0.23	0.04861	N	0.061	0.06587	-1.0423	0.16621	T	0.017	0.07187	T	10	0.0025596917	0.00039	T	.	.	.	0.080	0.23350	.	.	0.0138822411134	0.00435	0.1585855390422185	0.15779	1.17843841933	0.79943	0.27971714735	0.07453	T	0.036537	0.24141	T	-0.638056	0.00086	T	-0.67238	0.07457	T	0.00381348788400583	0.00040	T	0.387861	0.09571	T	0.018006098	0.00323	0.024166262	0.00432	0.016089765	0.00175	0.024166262	0.00432	-4.662	0.34027	T	0.1092145752290611	0.09092	0.076	0.06295	B	.;.;.	.;.;.	-0.863933	0.00987	0.040	0.58359987529475721	0.05976	0.00446	0.02168	N	AEFGI	0.011423	0.00101	N	-2.15860884939749	0.00095	0.004058833	-2.19078509612962	0.00117	0.005158386	0.924343781768029	0.26776	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	3.34	-6.44	0.01749	-2.525000	0.01024	-0.572000	0.08421	-0.978000	0.01909	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.295:0.1919:0.2782:0.2348	0.234	0.00170	886	0.28090	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	601.98	33	chr7	76441955	.	G	A	601.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.49;DP=720;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=32.81;MQRankSum=-6.860e-01;QD=12.54;ReadPosRankSum=-1.325e+00;SOR=0.540	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1118	20	0	1	0
chr7	76502389	76502389	A	G	exonic	DTX2	.	nonsynonymous SNV	DTX2:NM_001102596:exon5:c.A1181G:p.H394R	.	.	.	.	.	.	.	.	.	.	.	2353723	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.79	T	0.0	B	0.001	B	0.067	N	1.000	N	-1.61	N	-0.06	T	-0.995	T	0.051	T	0.16	-1.397	0.023	2.69	0.301	1.723	8.135	0.076	0.00787473415755	.	.	9.289e-05	0	8.78e-05	0.0001	0.0002	7.699e-05	0	0.0002	7.12e-05	11	154602	rs141623125	9.929e-05	0.0001	9.947e-05	9.912e-05	0.0009	8.587e-05	8.056e-05	0.0006	0.0006	2.988e-05	0.0001	0	0.0009	0.0001	0.0005	7.824e-05	6.628e-05	4.639e-05	0.0001	0.0001	0.0001	6.716e-05	0.0004	6.51e-05	5.321e-05	6.842e-05	3.34e-05	7.222e-05	0	0	0	0.0004	0.0003	0.0034	0.0001	0	0	0.974	0.02556	T	0.902	0.03795	T	0.0	0.02946	B	0.0	0.04355	B	0.067382	0.21744	N	0.451877	1	0.08975	N	-1.755	0.00319	N	-0.06	0.63568	T	3.76	0.00081	N	0.093	0.09349	-0.9946	0.31405	T	0.051	0.21650	T	10	0.034296215	0.01633	T	0.007875	0.20877	T	0.076	0.22200	.	.	0.577206278835	0.57390	0.45049109299130635	0.44967	0.124366561919	0.14002	0.305340260267	0.11202	T	0.155549	0.49733	T	-0.329129	0.06178	T	-0.506947	0.21630	T	0.0102298871563862	0.00139	T	0.0222978	0.00160	T	0.075239584	0.16938	0.07921575	0.17812	0.075239584	0.16938	0.07921575	0.17812	4.624	0.00005	T	.	.	0.046	0.00067	B	.;.;.;.;.	.;.;.;.;.	0.930271	0.13055	9.559	0.26141185377215981	0.01238	0.00772	0.03181	N	AEFBI	0.057735	0.10780	N	-1.29191418579742	0.03772	0.1690897	-1.08655882296389	0.07964	0.3895688	0.00102774976813255	0.08137	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	5.48	2.69	0.30923	1.449000	0.34734	3.449000	0.38434	-0.739000	0.03678	0.044000	0.21163	1.000000	0.68203	0.252000	0.23314	0.3847:0.0:0.6153:0.0	8.135	0.30208	905	0.23532	Zinc finger, C3HC4 RING-type|Zinc finger, RING-type|Zinc finger, RING-type;Zinc finger, C3HC4 RING-type|Zinc finger, RING-type|Zinc finger, RING-type;Zinc finger, C3HC4 RING-type|Zinc finger, RING-type|Zinc finger, RING-type;Zinc finger, C3HC4 RING-type|Zinc finger, RING-type|Zinc finger, RING-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	698.98	43	chr7	76502389	.	A	G	698.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.553;DP=946;ExcessHet=0.0000;FS=2.997;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.27;MQRankSum=-2.496e+00;QD=8.22;ReadPosRankSum=0.290;SOR=0.623	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr7	77199423	77199423	T	C	exonic	FGL2	.	nonsynonymous SNV	FGL2:NM_006682:exon1:c.A371G:p.E124G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.094	B	0.016	B	0.450	N	1.000	N	1.39	L	0.28	T	-1.032	T	0.109	T	0.053	0.507	6.748	-0.971	-0.366	0.938	2.876	0.024	0.0102785696799	.	.	.	.	.	.	.	.	.	.	.	.	.	rs765321540	4.104e-06	4.104e-06	4.084e-06	4.125e-06	0.0003	1.48e-06	9.7e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	1.799e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.27783	T	0.308	0.19845	T	0.094	0.25382	B	0.016	0.17743	B	0.449860	0.12521	N	0.787599	1	0.08975	N	1.445	0.36358	L	0.28	0.59037	T	-0.58	0.17417	N	0.065	0.03726	-1.0322	0.19745	T	0.109	0.39509	T	10	0.07075769	0.10338	T	0.010279	0.26632	T	0.024	0.04979	0.275	0.22687	0.273503213844	0.26977	0.2738636947966394	0.27299	0.177279006534	0.19951	0.332485020161	0.15310	T	0.227903	0.59332	T	-0.388602	0.02747	T	-0.626848	0.10655	T	0.0302658256265992	0.02030	T	0.507849	0.16117	T	0.032229073	0.03210	0.03936273	0.04010	0.032229073	0.03210	0.03936273	0.04010	-3.095	0.11239	T	.	.	0.071	0.19073	B	.;.	.;.	1.350826	0.17583	13.25	0.92558980468824326	0.22010	0.20438	0.21041	N	AEFDGBCI	0.251862	0.37166	N	-1.0759546555941	0.07088	0.3282634	-1.11359638269186	0.07440	0.361884	0.999987360751455	0.51787	0.549168	0.22868	0	0.405561	0.06353	1	0.475579	0.07313	0	0.616125	0.45549	0	.	.	6.17	-0.971	0.09777	0.829000	0.27102	-0.108000	0.11862	-0.133000	0.13014	0.001000	0.13787	0.000000	0.08366	0.029000	0.12982	0.11:0.1262:0.3544:0.4094	2.876	0.05285	480	0.77422	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2077.98	34	chr7	77199423	.	T	C	2077.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.860e-01;DP=873;ExcessHet=0.0000;FS=7.528;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.81;ReadPosRankSum=1.02;SOR=0.897	GT:AD:DP:GQ:PL	0/1:95,81:176:99:2092,0,2437	20	0	1	0
chr7	77274516	77274518	AAC	-	exonic	CCDC146	.	nonframeshift deletion	CCDC146:NM_020879:exon11:c.1304_1306del:p.Q437del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.344e-05	0	0	0	0	2.583e-05	0	0	3.84e-05	1	26028	rs773176681	3.449e-06	3.42e-06	2.745e-06	4.16e-06	1.186e-05	1.01e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.712e-06	1.672e-05	1.186e-05	6.58e-06	6.57e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2548.07	35	chr7	77274515	.	GAAC	G	2548.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.642;DP=805;ExcessHet=0.1072;FS=4.815;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=16.23;ReadPosRankSum=0.229;SOR=1.071	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1001	19	0	2	0
chr7	77293069	77293069	G	C	exonic	CCDC146	.	nonsynonymous SNV	CCDC146:NM_020879:exon18:c.G2533C:p.E845Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.783	P	0.36	B	0.000	N	1.000	D	1.845	L	0.97	T	-0.949	T	0.123	T	0.125	2.659	14.85	3.72	1.351	4.352	16.521	0.093	0.0118689613171	.	.	8.254e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	.	2.736e-06	2.736e-06	2.723e-06	2.75e-06	1.799e-06	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	3.312e-05	0	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.068	0.35726	T	0.202	0.27414	T	0.783	0.44368	P	0.36	0.43183	B	0.000002	0.62929	N	0.098890	0.999915	0.51042	D	1.19	0.30124	L	0.97	0.42502	T	-2.07	0.47344	N	0.15	0.15328	-0.9493	0.41092	T	0.123	0.42568	T	10	0.14718333	0.27892	T	0.011869	0.29919	T	0.093	0.26882	0.202	0.11659	0.313210971179	0.30940	0.5065618290665941	0.50578	0.199448872347	0.22341	0.37640196085	0.21745	T	0.006018	0.05459	T	-0.218612	0.18183	T	-0.551798	0.17153	T	0.796661913394928	0.46128	D	0.639136	0.25234	T	0.3131353	0.54055	0.26858756	0.52730	0.3131353	0.54055	0.26858756	0.52729	-7.405	0.56940	T	.	.	0.105	0.19357	B	.	.	4.014475	0.59245	24.1	0.99261574389805107	0.57222	0.86467	0.45753	D	AEFGHCI	0.523852	0.54728	D	0.158557028722422	0.49217	3.124647	0.23325272761807	0.51701	3.350474	0.94373774884694	0.27583	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.66	3.72	0.41857	4.840000	0.62513	4.725000	0.44525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.283:0.717:0.0	16.521	0.84164	471	0.78036	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2517.11	33	chr7	77293069	.	G	C	2517.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.13;DP=900;ExcessHet=0.1072;FS=2.848;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.32;ReadPosRankSum=-4.420e-01;SOR=0.703	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1199	19	0	2	0
chr7	77632365	77632365	G	C	exonic	PTPN12	.	nonsynonymous SNV	PTPN12:NM_001131009:exon13:c.G1624C:p.D542H	Colon cancer, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.927	P	0.498	P	0.011	N	0.519	D	1.245	L	3.74	T	-1.149	T	0.032	T	0.147	4.135	21.3	5.9	2.786	6.782	18.463	0.132	0.00661979020643	.	0.000399361	1.648e-05	0.0002	0	0	0	0	0	0	2.59e-05	4	154602	rs184252893	1.443e-05	1.437e-05	1.505e-05	1.38e-05	0.0007	9.27e-06	7.87e-06	0.0002	0.0002	0.0004	0	0	0	0	0.0007	0	6.647e-05	0	5.254e-05	5.25e-05	6.425e-05	4.029e-05	0.0001	2.556e-05	1.829e-05	4.728e-05	3.046e-05	0.0001	0	6.544e-05	0	0	0	0	0	0.0009	0	0.002	0.72154	D	0.122	0.38596	T	0.927	0.51527	P	0.498	0.47596	P	0.011253	0.29603	N	0.389820	0.519489	0.31885	D	1.935	0.51832	L	3.74	0.07920	T	-1.35	0.34992	N	0.303	0.36148	-1.1492	0.01049	T	0.032	0.13548	T	10	0.1255247	0.23855	T	0.00662	0.17472	T	0.132	0.35948	.	.	0.322865848456	0.31899	0.3331377111984372	0.33226	0.107576277926	0.12137	0.421340823174	0.28021	T	0.133257	0.46383	T	-0.342067	0.05246	T	-0.492463	0.23132	T	0.521535571927041	0.33422	D	0.906409	0.67021	D	0.17290151	0.38007	0.19412962	0.43019	0.17290151	0.38006	0.19412962	0.43018	-8.371	0.63572	D	.	.	0.269	0.66108	B	.;.;.	.;.;.	5.255111	0.88230	29.5	0.99656630650412292	0.77631	0.98571	0.84224	D	AEFBI	0.738419	0.68330	D	0.566909932540302	0.71118	5.602556	0.648999107713492	0.78535	6.896071	0.999910215735728	0.45857	0.732398	0.92422	0	0.743671	0.97443	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.9	5.9	0.94952	7.275000	0.77935	11.811000	0.96937	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.463	0.90692	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1987.98	33	chr7	77632365	.	G	C	1987.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.106;DP=910;ExcessHet=0.0000;FS=2.484;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=-7.270e-01;SOR=0.904	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1323	20	0	1	0
chr7	80656653	80656653	G	A	exonic	CD36	.	nonsynonymous SNV	CD36:NM_001127444:exon2:c.G234A:p.M78I	Platelet glycoprotein IV deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.951	N	1.000	N	-1.1	N	0.1	T	-1.026	T	0.074	T	0.177	0.786	8.146	-6.25	-1.446	-3.567	2.621	0.150	0.0102520499179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.20759	T	0.228	0.28210	T	0.0	0.02946	B	0.0	0.01387	B	0.951228	0.07657	N	1.022190	1	0.08975	N	-0.345	0.03330	N	-0.58	0.71425	T	-0.67	0.19933	N	0.211	0.24634	-1.0257	0.21853	T	0.074	0.29739	T	9	0.040949017	0.02707	T	0.010252	0.26566	T	0.150	0.39571	0.393	0.41770	0.0401082797425	0.02173	0.4666137794678448	0.46580	3.71968781554E-4	0.00038	0.326464533806	0.14400	T	0.048143	0.27930	T	-0.181266	0.23547	T	-0.498153	0.22540	T	0.0515517151828231	0.05770	T	0.648535	0.29555	T	0.28588754	0.51608	0.13654344	0.32662	0.28588754	0.51608	0.13654344	0.32661	-5.298	0.43658	T	0.11339934154377475	0.09919	0.169	0.37140	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	-0.134677	0.03441	0.632	0.83347874285642931	0.14676	0.05547	0.11442	N	AEFGCI	0.177584	0.30483	N	-1.48780128274192	0.01935	0.08496498	-1.4973655502931	0.02366	0.1087014	0.999988079758778	0.51787	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.53	-6.25	0.01863	-3.797000	0.00409	-2.191000	0.04080	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.985000	0.61073	0.236:0.1325:0.4449:0.1867	2.621	0.04619	966	0.07191	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	917.98	34	chr7	80656653	.	G	A	917.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.506e+00;DP=801;ExcessHet=0.0000;FS=2.992;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=-1.620e-01;SOR=0.510	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,99,1485	20	0	1	0
chr7	80656694	80656694	C	G	exonic	CD36	.	nonsynonymous SNV	CD36:NM_001127444:exon2:c.C275G:p.T92R	Platelet glycoprotein IV deficiency, Autosomal recessive	.	2	1513	6	1	0	8	0.00263678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.000	D	1.000	D	2.83	M	-0.77	T	0.338	D	0.641	D	0.978	4.403	23.3	5.53	2.749	6.670	18.600	0.767	0.0793477186756	0.0002	.	0.0001	0	0	0	0	9.016e-05	0.0011	0.0006	0.00011	17	154602	rs150037612	6.707e-05	6.704e-05	5.176e-05	8.254e-05	0.0033	5.632e-05	5.174e-05	0.0022	0.0018	0	2.237e-05	0	0	0	0.0033	2.429e-05	0.0002	0.0004	1.314e-05	1.313e-05	0	2.689e-05	0.0004	2.18e-06	8.2e-07	7.296e-05	3.031e-05	0	0	0	0	0	0	0	0	0	0.0004	0.0	0.91255	D	0.002	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.015	0.86134	M	-0.77	0.73523	T	-5.63	0.86836	D	0.96	0.99015	0.338	0.88152	D	0.641	0.87469	D	9	0.8524009	0.84423	D	0.079348	0.73214	D	0.767	0.92129	.	.	0.858453494572	0.85709	0.9578888100787888	0.95773	3.71968781554E-4	0.00038	0.575086712837	0.49394	T	0.464663	0.80012	T	0.140497	0.68372	D	0.313469	0.88811	D	0.806989312171936	0.46835	D	0.889211	0.76886	D	0.9815828	0.99228	0.93036675	0.97120	0.9854074	0.99494	0.92626756	0.96836	-12.369	0.89339	D	0.5615337990810085	0.62926	0.699	0.81088	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.569636	0.72080	25.8	0.9935317107135504	0.60697	0.94817	0.62432	D	AEFCI	0.916664	0.88319	D	0.814140529960591	0.86982	9.063513	0.762004932357239	0.87050	9.090468	0.999999999990867	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.53	5.53	0.82530	6.968000	0.75873	4.935000	0.46163	0.599000	0.40250	0.998000	0.41325	0.997000	0.33255	0.657000	0.32885	0.0:1.0:0.0:0.0	18.600	0.91199	966	0.07191	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	501.98	38	chr7	80656694	.	C	G	501.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.54;DP=770;ExcessHet=0.0000;FS=3.297;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=0.453;SOR=0.261	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,99,1485	20	0	1	0
chr7	80666481	80666481	A	T	exonic	CD36	.	nonsynonymous SNV	CD36:NM_001371080:exon5:c.A275T:p.N92I	Platelet glycoprotein IV deficiency, Autosomal recessive	.	2	1518	2	0	0	2	0.000658328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.000	D	1.000	D	3.505	H	-0.76	T	0.604	D	0.677	D	0.8	3.821	19.40	5.01	2.003	5.408	14.694	0.806	0.149068458386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	3.715	0.94732	H	-0.76	0.73417	T	-8.05	0.96608	D	0.925	0.93018	0.604	0.91952	D	0.677	0.88840	D	9	0.97210133	0.96844	D	0.149068	0.83092	D	0.806	0.93699	0.902	0.97858	0.580153967196	0.57686	0.9502354750495985	0.95006	3.66727572043E-4	0.00038	0.560888648033	0.47394	T	0.522756	0.83341	D	0.249474	0.78552	D	0.120575	0.78273	D	0.999582469463348	0.98022	D	0.968303	0.90741	D	0.9761588	0.98804	0.9415999	0.97872	0.9761588	0.98804	0.9415999	0.97873	-12.811	0.90413	D	0.705515531027337	0.78508	0.516	0.65310	A	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.839651	0.78995	27.0	0.9934587193798794	0.60371	0.69622	0.34261	D	AEFDBCIJ	0.572060	0.57579	D	0.779006468690267	0.84777	8.38318	0.691471910538916	0.81731	7.595706	0.999999359368932	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.01	5.01	0.66477	5.664000	0.67715	9.340000	0.80208	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	1.0:0.0:0.0:0.0	14.694	0.68719	971	0.05719	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1171.98	35	chr7	80666481	.	A	T	1171.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.700e-01;DP=812;ExcessHet=0.0000;FS=4.689;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.65;ReadPosRankSum=1.83;SOR=0.993	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1139	20	0	1	0
chr7	80671036	80671036	T	G	exonic	CD36	.	nonsynonymous SNV	CD36:NM_001289908:exon6:c.T761G:p.F254C	Platelet glycoprotein IV deficiency, Autosomal recessive	.	3	1516	2	1	0	4	0.00131752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.989	D	0.000	D	1.000	D	3.31	M	-1.29	T	0.603	D	0.716	D	0.921	3.372	17.37	4.63	2.238	1.726	11.679	0.836	0.143918147072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	1.362e-06	2.752e-06	0.0003	5.5e-07	1.5e-07	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.989	0.78396	D	0.000166	0.48594	D	0.216196	0.999549	0.81001	D	3.595	0.93690	H	-1.29	0.79475	T	-6.96	0.93544	D	0.779	0.77789	0.603	0.91938	D	0.716	0.90265	D	9	0.9660251	0.96087	D	0.143918	0.82621	D	0.836	0.94840	0.825	0.93657	0.79179384081	0.78986	0.974178952334401	0.97407	3.61486425784E-4	0.00038	0.653207302094	0.60441	T	0.652468	0.89471	D	0.394215	0.89576	D	0.328486	0.89444	D	0.993394672870636	0.84176	D	0.873813	0.59457	D	0.972831	0.98518	0.9415407	0.97868	0.972831	0.98518	0.9415407	0.97869	-10.631	0.77596	D	0.8247999244014119	0.89699	0.974	0.92043	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.689115	0.75117	26.3	0.99444158749296252	0.64921	0.91054	0.52770	D	AEFCI	0.713482	0.66627	D	0.676781726522379	0.78110	6.806208	0.611053114266909	0.75742	6.364507	0.508294724740897	0.20999	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.85	4.63	0.57175	2.325000	0.43499	4.133000	0.42042	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1326:0.0:0.0:0.8674	11.679	0.50706	971	0.05719	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1126.98	35	chr7	80671036	.	T	G	1126.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.956;DP=795;ExcessHet=0.0000;FS=2.541;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.05;ReadPosRankSum=-1.261e+00;SOR=0.819	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1506	20	0	1	0
chr7	80672798	80672808	AACGGCTGCAG	-	exonic	CD36	.	frameshift deletion	CD36:NM_001289908:exon8:c.1037_1047del:p.K346Sfs*29	Platelet glycoprotein IV deficiency, Autosomal recessive	.	4	1511	7	0	0	7	0.00231099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.596e-06	1.163e-05	8.184e-06	1.102e-05	0.0014	5.57e-06	4.36e-06	0.0007	0.0005	0	0	0	0	0	0.0014	0	9.966e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	312.94	33	chr7	80672797	.	AAACGGCTGCAG	A	312.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=726;ExcessHet=0.0000;FS=5.633;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.82;ReadPosRankSum=-5.630e-01;SOR=1.527	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1060	20	0	1	0
chr7	81705502	81705502	T	C	exonic	HGF	.	nonsynonymous SNV	HGF:NM_000601:exon17:c.A1898G:p.H633R	Deafness, autosomal recessive 39, Autosomal recessive	.	2	1515	5	0	0	5	0.00164745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.378	B	0.054	B	0.002	N	1.000	D	-0.19	N	-2.34	D	-0.536	T	0.301	T	0.489	0.691	7.692	4.95	1.979	4.439	10.993	0.372	0.058995088947	.	.	4.14e-05	0	0	0.0001	0	1.504e-05	0	0.0002	3.23e-05	5	154602	rs746110664	2.601e-05	2.599e-05	1.362e-05	3.853e-05	0.0002	1.934e-05	1.693e-05	0.0001	9.452e-05	0	0	0	2.521e-05	0	0.0002	1.44e-05	6.63e-05	0.0002	1.317e-05	1.314e-05	0	2.697e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	0	0	0.0002	0.65	0.04848	T	0.529	0.10138	T	0.378	0.34287	B	0.054	0.25828	B	0.001711	0.38216	N	0.311853	0.715125	0.33559	D	-0.32	0.03561	N	-2.34	0.87989	D	-0.77	0.21429	N	0.487	0.52119	-0.5365	0.67296	T	0.301	0.67232	T	10	0.23366907	0.40389	T	0.058995	0.67511	D	0.372	0.69102	0.688	0.82558	0.865476697762	0.86417	0.6533676114578643	0.65272	0.683016980311	0.60141	0.552496254444	0.46209	T	0.497176	0.81916	T	-0.155561	0.27444	T	-0.186929	0.55877	T	0.0921397195614843	0.11469	T	0.867113	0.56785	D	0.315374	0.54247	0.21538672	0.46126	0.315374	0.54247	0.21538672	0.46125	-4.102	0.25320	T	0.08659186984289179	0.05000	0.077	0.11701	B	.;.;.	.;.;.	2.387516	0.30655	18.50	0.90636703688598363	0.19889	0.72577	0.35519	D	AEFDBCI	0.729631	0.67728	D	-0.216813847188683	0.32443	1.829755	-0.0176336489177468	0.38919	2.299864	0.999999980183518	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	4.95	4.95	0.64894	3.183000	0.50619	4.203000	0.42481	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.1562:0.8438	10.993	0.46774	821	0.40814	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1201.98	33	chr7	81705502	.	T	C	1201.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.068e+00;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=-3.980e-01;SOR=0.724	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1179	20	0	1	0
chr7	81971858	81971858	G	A	exonic	CACNA2D1	.	nonsynonymous SNV	CACNA2D1:NM_000722:exon26:c.C2060T:p.A687V	.	.	518	1003	1	0	0	1	0.000498256	.	.	1007621	Brugada_syndrome|Cardiovascular_phenotype	MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.21	T	0.0	B	0.001	B	0.697	N	1.000	N	-0.755	N	3.27	T	-1.058	T	0.034	T	0.168	1.089	9.444	4.22	2.411	1.901	9.865	0.043	0.0086315341336	.	.	7.456e-05	0	0	0.0001	0	4.518e-05	0	0.0003	5.82e-05	9	154602	rs761738920	3.115e-05	3.353e-05	2.069e-05	4.169e-05	0.0003	2.375e-05	2.12e-05	0.0002	0.0002	6.046e-05	0	0	5.071e-05	0	0	1.367e-05	1.676e-05	0.0003	1.319e-05	1.314e-05	0	2.703e-05	2.419e-05	2.19e-06	8.2e-07	.	.	2.419e-05	0	0	0	0	0	0	1.476e-05	0	0	0.313	0.13879	T	0.321	0.19073	T	0.0	0.02946	B	0.001	0.04355	B	0.697347	0.06182	N	1.132290	1	0.08975	N	-0.205	0.04094	N	3.27	0.06681	T	-0.22	0.10480	N	0.087	0.06454	-1.0582	0.12209	T	0.034	0.14683	T	10	0.06627524	0.09065	T	0.008632	0.22804	T	0.113	0.31778	0.485	0.56780	0.102598925029	0.09809	0.35942288403855305	0.35856	0.453800598545	0.45067	0.310485720634	0.11980	T	0.058327	0.30813	T	-0.47995	0.00740	T	-0.647756	0.09112	T	0.0441522922811622	0.04448	T	0.807119	0.45664	T	0.035514783	0.04193	0.06369398	0.12654	0.035514783	0.04193	0.06369398	0.12653	-1.619	0.02226	T	.	.	0.093	0.14015	B	.;.	.;.	2.163679	0.27570	17.51	0.98327101619961532	0.40300	0.20795	0.21171	N	AEFBI	0.110854	0.21967	N	-0.243875445997319	0.31348	1.756863	-0.161533313883186	0.32967	1.88089	0.980953929873883	0.30199	0.706298	0.61202	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.22	4.22	0.49153	2.443000	0.44540	6.537000	0.55873	0.618000	0.50648	0.405000	0.26210	1.000000	0.68203	0.057000	0.15750	0.174:0.0:0.826:0.0	9.865	0.40309	914	0.21048	.;Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	345.98	35	chr7	81971858	.	G	A	345.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.522;DP=688;ExcessHet=0.0000;FS=1.309;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.87;ReadPosRankSum=1.20;SOR=1.022	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1219	20	0	1	0
chr7	82951071	82951071	G	A	exonic	PCLO	.	nonsynonymous SNV	PCLO:NM_014510:exon6:c.C9517T:p.L3173F	.	.	.	.	.	.	.	.	.	.	.	1483890	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.047	B	0.032	B	.	.	1.000	N	1.59	L	2.22	T	-0.978	T	0.025	T	0.091	-0.481	1.784	3.63	0.616	2.057	1.984	0.059	0.00429554454332	8.2e-05	0.000599042	9.179e-05	0	8.75e-05	0.0006	0	6.037e-05	0	6.103e-05	9.06e-05	14	154602	rs140332141	5.884e-05	5.883e-05	5.173e-05	6.602e-05	0.0012	4.877e-05	4.497e-05	0.0010	0.0009	0	0.0002	0	0.0012	0	0	1.259e-05	0.0001	0.0001	0.0002	0.0002	0.0003	0.0001	0.0014	0.0001	0.0001	0.0007	0.0006	2.405e-05	0	0.0011	0	0.0014	0	0	0	0.0014	0	0.012	0.55530	D	0.383	0.15842	T	0.047	0.21998	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	.	.	.	2.22	0.18248	T	-2.18	0.49187	N	0.219	0.24510	-0.9779	0.35481	T	0.025	0.10866	T	9	0.023579389	0.00621	T	0.004296	0.10404	T	0.059	0.16972	.	.	0.110392049598	0.10638	0.4052033385504438	0.40436	0.0382972999509	0.04077	0.374280750751	0.21443	T	.	.	.	-0.513346	0.00480	T	-0.632432	0.10231	T	0.0331903534374123	0.02503	T	0.642936	0.26018	T	0.11874479	0.27973	0.22552694	0.47500	0.11874479	0.27972	0.22552694	0.47499	-5.344	0.40376	T	.	.	0.068	0.02797	B	.;.	.;.	2.305737	0.29507	18.15	0.92366393700038507	0.21770	0.26336	0.22964	N	AEFDBI	.	.	.	-0.295476564374107	0.29323	1.625053	-0.203698962968483	0.31404	1.776882	0.00140846876063466	0.08512	0.581397	0.33459	0	0.573888	0.26702	0	0.565031	0.19037	0	0.620846	0.47308	0	.	.	5.57	3.63	0.40741	2.463000	0.44715	5.181000	0.47864	0.618000	0.50648	0.988000	0.36536	1.000000	0.68203	0.987000	0.62547	0.1827:0.1276:0.503:0.1867	1.984	0.03224	888	0.27761	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1828.98	33	chr7	82951071	.	G	A	1828.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.22;DP=863;ExcessHet=0.0000;FS=3.789;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=1.49;SOR=0.718	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr7	82954708	82954708	G	A	exonic	PCLO	.	nonsynonymous SNV	PCLO:NM_014510:exon5:c.C6245T:p.P2082L	.	.	429	1092	1	0	0	1	0.000457666	.	.	1940155	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.026	B	0.017	B	.	.	1.000	D	1.7	L	1.25	T	-1.038	T	0.093	T	0.325	-0.017	3.928	3.96	0.774	5.726	12.878	0.193	0.0054576316389	.	.	6.631e-05	0	0	0.0008	0	1.5e-05	0	0	5.17e-05	8	154602	rs761078619	2.052e-05	2.052e-05	2.314e-05	1.788e-05	0.0005	1.456e-05	1.264e-05	0.0004	0.0003	0	0	0	0.0005	0	0.0002	5.397e-06	1.656e-05	1.159e-05	1.316e-05	1.314e-05	1.286e-05	1.347e-05	0.0004	2.19e-06	8.2e-07	6.837e-05	2.861e-05	0	0	0	0	0.0004	0	0	0	0	0	0.187	0.21385	T	0.042	0.50226	D	0.026	0.19406	B	0.017	0.18140	B	.	.	.	.	0.993614	0.41996	D	.	.	.	1.22	0.37052	T	-8.46	0.97233	D	0.28	0.40264	-1.0375	0.18078	T	0.093	0.35417	T	9	0.045669794	0.03664	T	0.005458	0.14045	T	0.193	0.47281	0.158	0.06178	0.158540857583	0.15491	0.33091519017536947	0.33004	0.0368583676945	0.03907	0.452296793461	0.32258	T	.	.	.	-0.435316	0.01378	T	-0.428157	0.30144	T	0.111284765294905	0.13556	T	0.846215	0.52631	T	0.18421218	0.39726	0.2755592	0.53493	0.18421218	0.39725	0.2755592	0.53492	-3.527	0.16812	T	.	.	0.089	0.12323	B	.;.	.;.	2.407311	0.30938	18.59	0.7257752150680179	0.10022	0.98062	0.79276	D	AEFI	0.566541	0.57249	D	-0.261252872649523	0.30657	1.711419	-0.211340972657854	0.31126	1.75874	0.00970230670057715	0.11900	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.77	3.96	0.45097	5.840000	0.69113	4.910000	0.45943	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.501000	0.29039	0.1338:0.0:0.8662:0.0	12.878	0.57391	887	0.27948	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1779.98	137	chr7	82954708	.	G	A	1779.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.51;DP=1397;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.99;ReadPosRankSum=-1.010e+00;SOR=0.735	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,112,1800	20	0	1	0
chr7	82955138	82955138	C	G	exonic	PCLO	.	nonsynonymous SNV	PCLO:NM_014510:exon5:c.G5815C:p.E1939Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.493	P	0.277	B	.	.	1.000	D	1.39	L	2.33	T	-1.128	T	0.054	T	0.071	1.005	9.104	5.57	2.619	3.518	19.540	0.140	0.00432343234761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.22573	T	0.41	0.14818	T	0.493	0.37004	P	0.277	0.40197	B	.	.	.	.	0.96305	0.38326	D	.	.	.	2.32	0.16640	T	-0.81	0.22294	N	0.304	0.34336	-1.1282	0.01870	T	0.054	0.22997	T	9	0.18362057	0.33697	T	0.004323	0.10498	T	0.140	0.37593	0.289	0.24921	0.385882932397	0.38197	0.21219558405339548	0.21135	0.0361862173451	0.03821	0.359603524208	0.19328	T	.	.	.	-0.304086	0.08279	T	-0.674575	0.07318	T	0.245420459331524	0.22667	T	0.810219	0.46129	T	0.15571809	0.35180	0.17021994	0.39115	0.15571809	0.35179	0.17021994	0.39114	-4.957	0.36370	T	.	.	0.209	0.43640	B	.;.	.;.	3.193509	0.43402	21.7	0.93770196018755436	0.23722	0.77912	0.38366	D	AEFHCI	0.596343	0.59055	D	0.261880950511452	0.54231	3.589018	0.375798937598896	0.60075	4.191352	0.904443024280057	0.26179	0.553676	0.25195	0	0.615948	0.52940	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.57	5.57	0.84021	3.740000	0.54802	7.715000	0.67011	0.599000	0.40250	0.948000	0.32982	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.540	0.95264	887	0.27948	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	216.98	39	chr7	82955138	.	C	G	216.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.117e+00;DP=899;ExcessHet=0.0000;FS=93.489;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.01;ReadPosRankSum=0.442;SOR=5.889	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:47,0:47:99:.:.:0,102,1530	20	0	1	0
chr7	83155170	83155170	G	A	exonic	PCLO	.	nonsynonymous SNV	PCLO:NM_014510:exon2:c.C1471T:p.P491S	.	.	435	1082	4	0	1	5	0.00184502	.	.	1504036	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	.	.	0.937	N	1.32	L	2.46	T	-0.975	T	0.026	T	0.096	-0.161	3.215	-9.62	-2.036	-0.861	3.950	0.019	0.0097888096477	.	.	0.0002	0	0	0	0	3.087e-05	0.0011	0.0014	0.0001682	26	154602	rs767318084	8.063e-05	8.463e-05	5.157e-05	0.0001	0.0012	6.833e-05	6.356e-05	0.0010	0.0009	0	0	0	0	0	0	9.159e-06	5.148e-05	0.0012	4.19e-05	4.11e-05	2.724e-05	5.734e-05	0.0009	1.804e-05	1.188e-05	0.0003	0.0002	0	0	0	0	0	0	0	3.013e-05	0	0.0009	0.243	0.17526	T	0.602	0.09655	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	2.45	0.15028	T	0.28	0.04233	N	0.135	0.14622	-0.9754	0.36037	T	0.026	0.10954	T	9	0.015186787	0.00319	T	0.009789	0.25540	T	0.019	0.03383	.	.	0.082315109003	0.07666	0.09714909841175079	0.09645	0.0512605439313	0.05640	0.258844912052	0.04753	T	.	.	.	-0.675584	0.00051	T	-0.788758	0.02199	T	0.0586373907399931	0.06951	T	0.106289	0.00793	T	0.019583767	0.00492	0.03894228	0.03875	0.019583767	0.00491	0.03894228	0.03875	-1.598	0.01977	T	.	.	0.062	0.01197	B	.;.	.;.	-0.667171	0.01399	0.081	0.81825165134500577	0.13879	0.01829	0.05679	N	AEFI	0.064812	0.12605	N	-1.48617116092876	0.01947	0.08548692	-1.64643695623573	0.01394	0.06300971	0.90687551103925	0.26243	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.81	-9.62	0.00458	-0.359000	0.07683	-11.531000	0.00597	-0.237000	0.07570	0.001000	0.13787	0.000000	0.08366	0.006000	0.07323	0.1996:0.454:0.1901:0.1563	3.950	0.08859	845	0.36510	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1296.98	50	chr7	83155170	.	G	A	1296.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.266e+00;DP=1125;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=1.08;SOR=0.688	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	20	0	1	0
chr7	85022533	85022533	G	T	exonic	SEMA3D	.	nonsynonymous SNV	SEMA3D:NM_152754:exon12:c.C1272A:p.H424Q	.	.	438	1075	9	0	0	9	0.0041686	.	.	514269	not_provided|Aganglionic_megacolon|SEMA3D-related_disorder	MedGen:C3661900|Human_Phenotype_Ontology:HP:0002029,Human_Phenotype_Ontology:HP:0002030,Human_Phenotype_Ontology:HP:0002251,Human_Phenotype_Ontology:HP:0002606,Human_Phenotype_Ontology:HP:0004391,MONDO:MONDO:0018309,MeSH:D006627,MedGen:C0019569,OMIM:PS142623,Orphanet:388|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.84	H	1.74	T	-0.631	T	0.163	T	0.953	3.076	16.27	0.088	0.072	1.520	10.595	0.866	0.32924875925	0.0035	0.00239617	0.0037	0.0007	0.0016	0	0.0024	0.0060	0.0066	0.0002	0.0037451	579	154602	rs141893504	0.0051	0.0051	0.0052	0.0049	0.0078	0.0050	0.0050	0.0060	0.0055	0.0011	0.0029	0.0139	0	0.0025	0.0078	0.0057	0.0064	0.0003	0.0042	0.0042	0.0046	0.0038	0.0064	0.0039	0.0038	0.0059	0.0057	0.0009	0	0.0040	0.0156	0	0.0028	0.0136	0.0064	0.0071	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999927	0.51308	D	3.84	0.95699	H	1.74	0.26301	T	-7.79	0.95897	D	0.989	0.99670	-0.6307	0.63541	T	0.163	0.49963	T	10	0.10156855	0.18565	T	0.329249	0.91702	D	0.866	0.95949	0.9	0.97772	0.600852053967	0.59767	0.8530348867399894	0.85265	0.654022346849	0.58506	0.537249684334	0.44057	T	0.208846	0.56890	T	-0.0761959	0.40332	T	0.121499	0.78335	D	0.113648503036351	0.13798	T	0.810819	0.46223	T	0.9332991	0.94568	0.8581397	0.92052	0.937778	0.95021	0.8769396	0.93348	-7.685	0.58903	D	0.8674075455513135	0.92910	0.946	0.86464	P	.	.	3.442812	0.47899	22.5	0.99171538151022121	0.54412	0.82388	0.41623	D	AEFDGHCI	0.449854	0.50450	N	0.322134330545018	0.57287	3.895416	0.158465256724691	0.47593	2.987149	0.91064219591083	0.26345	0.706298	0.61202	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.67	0.088	0.13765	1.646000	0.36865	1.401000	0.26197	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.512:0.0:0.488:0.0	10.595	0.44521	913	0.21160	Sema domain|Sema domain|Sema domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1479.98	33	chr7	85022533	.	G	T	1479.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.372;DP=806;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.70;ReadPosRankSum=-8.300e-02;SOR=0.688	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1620	20	0	1	0
chr7	86850537	86850537	C	T	exonic	GRM3	.	nonsynonymous SNV	GRM3:NM_001363522:exon4:c.C1492T:p.L498F,	.	.	426	1089	6	1	0	8	0.00365965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.0	B	0.001	B	.	.	1.000	N	.	.	-2.47	D	-0.422	T	0.496	T	.	1.065	9.349	0.904	0.500	0.092	7.704	0.260	0.031727895572	0.0003	0.000399361	0.0008	0	8.74e-05	0	0	0.0002	0.0011	0.0050	0.0006274	97	154602	rs56114051	0.0003	0.0003	0.0002	0.0004	0.0041	0.0003	0.0003	0.0037	0.0036	0	0	3.846e-05	2.525e-05	0	0.0014	7.643e-05	0.0002	0.0041	0.0002	0.0002	0.0002	0.0002	0.0046	0.0001	0.0001	0.0031	0.0026	4.812e-05	0	0	0	0	0	0.0034	5.882e-05	0.0005	0.0046	0.0	0.91255	D	0.146	0.32891	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.47	0.88997	D	-0.2	0.10136	N	0.162	0.17002	-0.4220	0.71326	T	0.496	0.80922	T	8	0.0053165853	0.00117	T	0.031728	0.53738	D	0.260	0.57221	.	.	0.404248775258	0.40039	.	.	.	.	.	.	.	.	.	.	-0.158734	0.26954	T	-0.00162589	0.70230	D	0.037966683980942	0.03325	T	0.276972	0.04759	T	.	.	.	.	.	.	.	.	-4.506	0.30967	T	.	.	0.077	0.06525	B	.	.	0.358079	0.07308	3.919	0.91621117344030312	0.20906	0.29431	0.23820	N	AEFGCI	0.016640	0.00387	N	-0.461538980575995	0.23350	1.253313	-0.334525504834552	0.26992	1.494691	0.372803940929474	0.19887	0.615465	0.37627	0	0.851559	0.99867	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.93	0.904	0.18433	-0.024000	0.12382	-0.059000	0.12448	-0.167000	0.11441	0.918000	0.31901	0.863000	0.27509	0.996000	0.76049	0.0:0.4547:0.0:0.5453	7.704	0.27801	456	0.79013	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3696.08	33	chr7	86850537	.	C	T	3696.08	.	AC=2;AF=0.048;AN=42;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.00;SOR=1.807	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	1	0	0
chr7	86891780	86891780	C	G	exonic	ELAPOR2	.	nonsynonymous SNV	ELAPOR2:NM_001291991:exon20:c.G2254C:p.V752L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.055	B	0.022	B	0.000	D	0.996	D	1.01	L	2.49	T	-1.059	T	0.028	T	0.356	0.745	7.951	3.98	0.904	2.936	9.505	0.029	0.0100318415433	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.774e-05	0.0002	3.04e-05	2.506e-05	3.562e-05	2.091e-05	1.841e-05	2.666e-05	2.341e-05	3.034e-05	0	0	0	0	0	3.562e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.669	0.04943	T	0.407	0.16717	T	0.001	0.07471	B	0.008	0.13708	B	0.000209	0.47681	D	0.181406	0.995618	0.42773	D	0.695	0.17993	N	2.49	0.18083	T	-0.51	0.17417	N	0.365	0.40963	-1.0591	0.11981	T	0.028	0.12103	T	10	0.08162895	0.13385	T	0.010032	0.26080	T	0.047	0.12962	0.14	0.04369	0.0482279557977	0.04254	0.08786455680831268	0.08719	0.220204035971	0.24559	0.630701303482	0.57245	T	0.011705	0.12752	T	-0.156602	0.27282	T	-0.462725	0.26302	T	0.720050930976868	0.41701	D	0.871013	0.57621	D	0.057398614	0.11417	0.055046372	0.09583	0.057398614	0.11417	0.055046372	0.09582	-3.968	0.31665	T	.	.	0.301	0.53048	B	.;.;.	.;.;.	2.312557	0.29604	18.18	0.83331248727734708	0.14667	0.93747	0.59076	D	AEFBI	0.637744	0.61641	D	-0.268445132885649	0.30373	1.69302	-0.0859509096982364	0.35970	2.087488	0.00307194780848886	0.09909	0.732398	0.92422	0	0.670034	0.63936	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.77	3.98	0.45383	2.971000	0.48940	2.236000	0.31572	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.7678:0.0:0.2322	9.505	0.38207	587	0.69154	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	50.54	109	chr7	86891780	.	C	G	50.54	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-3.732e+00;DP=1232;ExcessHet=0.0000;FS=295.526;InbreedingCoeff=-0.0479;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=0.47;ReadPosRankSum=2.32;SOR=8.189	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1123	19	0	1	1
chr7	86940048	86940048	G	A	exonic	ELAPOR2	.	nonsynonymous SNV	ELAPOR2:NM_001291991:exon5:c.C89T:p.A30V	.	.	.	.	.	.	.	.	.	.	.	2728943	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.68	T	0.002	B	0.002	B	0.000	N	0.718	N	-0.885	N	0.91	T	-1.041	T	0.030	T	0.173	0.711	7.786	3.86	1.502	3.839	4.531	0.067	0.00437899564799	7.7e-05	.	2.478e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs374145370	2.467e-05	2.736e-05	9.548e-06	3.995e-05	0.0003	1.806e-05	1.603e-05	0.0002	0.0001	0	0.0001	0	0	0	0	3.603e-06	6.639e-05	0.0003	2.632e-05	2.627e-05	2.572e-05	2.694e-05	0.0002	8.15e-06	5.15e-06	2.267e-05	9.1e-06	2.416e-05	0	0.0001	0	0	0	0	0	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.002	0.06944	B	0.000230	0.47286	N	0.180906	0.718208	0.33589	D	-1.11	0.00959	N	0.91	0.44856	T	0.24	0.04533	N	0.1	0.08227	-1.0413	0.16921	T	0.030	0.12804	T	10	0.030792445	0.01208	T	0.004379	0.10687	T	0.067	0.19503	.	.	0.262662153117	0.25859	0.27410039133699476	0.27323	0.21882373752	0.24425	0.608333110809	0.54080	T	0.002629	0.02024	T	-0.421192	0.01680	T	-0.546597	0.17653	T	0.074597547103739	0.09282	T	0.714629	0.38273	T	0.022108758	0.00851	0.04339495	0.05390	0.022108758	0.00851	0.04339495	0.05390	-1.149	0.01368	T	.	.	0.074	0.09191	B	.;.;.	.;.;.	1.810411	0.23007	15.85	0.61754354135497214	0.06789	0.77822	0.38310	D	AEFBI	0.158781	0.28449	N	-0.516125850855099	0.21558	1.145006	-0.271859634173599	0.29030	1.62318	0.999541473539848	0.40300	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.9	3.86	0.43689	3.863000	0.55728	3.294000	0.37329	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.308000	0.24690	0.3986:0.0:0.6014:0.0	4.531	0.11411	587	0.69154	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1638.98	36	chr7	86940048	.	G	A	1638.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.120;DP=816;ExcessHet=0.0000;FS=1.455;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=-1.993e+00;SOR=0.778	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1139	20	0	1	0
chr7	87381958	87381958	G	A	exonic	CROT	.	nonsynonymous SNV	CROT:NM_021151:exon11:c.G1027A:p.D343N	.	.	451	1070	1	0	0	1	0.000467071	.	.	2672711	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.35	T	0.011	B	0.015	B	0.000	D	1.000	D	1.215	L	-2.48	D	-0.173	T	0.569	D	0.285	2.713	15.03	5.35	2.674	6.169	19.421	0.346	0.0504303391021	7.7e-05	.	7.475e-05	0	0	0	0	9.068e-05	0.0011	0.0001	5.82e-05	9	154602	rs201754021	7.678e-05	7.661e-05	8.183e-05	7.167e-05	0.0007	6.504e-05	6.083e-05	0.0002	0.0001	0	2.241e-05	0	0	0	0.0007	9.095e-05	6.634e-05	2.341e-05	5.253e-05	5.25e-05	6.425e-05	4.029e-05	8.823e-05	2.556e-05	1.829e-05	3.763e-05	2.576e-05	2.405e-05	0	0	0	0	0	0.0034	8.823e-05	0	0	0.446	0.09101	T	0.35	0.17478	T	0.009	0.15093	B	0.01	0.14941	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.65	0.42232	L	-2.48	0.89071	D	-1.05	0.27463	N	0.367	0.40864	-0.1733	0.78347	T	0.569	0.84404	D	10	0.2553631	0.42927	T	0.05043	0.64240	D	0.346	0.66769	.	.	0.805041889666	0.80321	0.7385355380686064	0.73798	0.0270564746845	0.02765	0.446804791689	0.31507	T	0.194019	0.54967	T	-0.0956672	0.37142	T	-0.189292	0.55657	T	0.0828937664628029	0.10353	T	0.754025	0.37642	T	0.44757488	0.63888	0.37468627	0.62629	0.44757488	0.63888	0.37468627	0.62628	-7.351	0.58073	T	.	.	0.212	0.60931	B	.;.;.	.;.;.	2.973439	0.39636	21.0	0.99190887039898445	0.54965	0.97393	0.74464	D	AEFBCI	0.789880	0.71894	D	0.00121784298903509	0.41910	2.515456	0.194883082937241	0.49566	3.158254	0.999999994904025	0.74766	0.638212	0.43195	0	0.633656	0.55848	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.35	5.35	0.76297	6.252000	0.72400	6.700000	0.56368	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.421	0.94714	489	0.76795	.;Choline/carnitine acyltransferase domain;Choline/carnitine acyltransferase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1306.98	33	chr7	87381958	.	G	A	1306.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.042;DP=813;ExcessHet=0.0000;FS=1.528;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-1.791e+00;SOR=0.536	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1155	20	0	1	0
chr7	87393030	87393030	A	G	exonic	CROT	.	nonsynonymous SNV	CROT:NM_021151:exon17:c.A1681G:p.N561D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.025	B	0.04	B	0.000	D	1.000	N	-0.34	N	-2.14	D	-0.673	T	0.302	T	0.175	2.263	13.52	3.64	2.371	2.416	13.797	0.334	0.04460618358	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1343100259	1.369e-06	2.052e-06	0	2.751e-06	1.16e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.19927	T	0.774	0.04416	T	0.005	0.12996	B	0.013	0.16460	B	0.000027	0.55875	D	0.187020	0.526773	0.31524	N	-0.125	0.04555	N	-2.14	0.86415	D	-0.49	0.15578	N	0.293	0.33140	-0.6733	0.61679	T	0.302	0.67344	T	10	0.3511385	0.51970	T	0.044606	0.61572	D	0.334	0.65620	0.702	0.83869	0.530754069387	0.52724	0.6543527637213004	0.65371	0.0283290679928	0.02908	0.388054072857	0.23396	T	0.203427	0.56189	T	-0.1242	0.32438	T	-0.319327	0.42649	T	0.254090815782547	0.23055	T	0.819518	0.58780	T	0.21385334	0.43775	0.18869197	0.42175	0.21385334	0.43775	0.18869197	0.42174	-3.993	0.28720	T	.	.	0.073	0.08081	B	.;.;.	.;.;.	1.666565	0.21249	15.12	0.99118335938541058	0.52906	0.81354	0.40775	D	AEFBCI	0.591508	0.58758	D	-0.442482543954174	0.23996	1.292574	-0.178145552296756	0.32341	1.839057	0.999997704002192	0.74766	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	6.17	3.64	0.40864	2.441000	0.44522	0.649000	0.20393	0.756000	0.94297	0.965000	0.33920	0.000000	0.08366	0.955000	0.50612	0.7921:0.2079:0.0:0.0	13.797	0.62667	488	0.76887	.;Choline/carnitine acyltransferase domain;Choline/carnitine acyltransferase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1534.98	40	chr7	87393030	.	A	G	1534.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.99;DP=945;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-1.270e-01;SOR=0.697	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr7	87426904	87426904	A	T	exonic	ABCB4	.	nonsynonymous SNV	ABCB4:NM_000443:exon16:c.T1910A:p.I637N	Cholestasis, intrahepatic, of pregnancy, 3, Autosomal recessive, Autosomal dominant;Cholestasis, progressive familial intrahepatic 3, Autosomal recessive;Gallbladder disease 1, Autosomal recessive, Autosomal dominant	.	4	1512	6	0	0	6	0.0019802	.	.	1037823	not_provided	MedGen:C3661900	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.49	T	0.0	B	0.009	B	0.001	N	1.000	N	0.915	L	-2.12	D	-0.733	T	0.418	T	0.13	-1.526	0.016	-2.36	-0.503	0.190	4.658	0.254	0.0932750935927	0.0002	.	0.0001	0	8.7e-05	0	0	4.519e-05	0.0011	0.0005	0.0001229	19	154602	rs202167250	0.0001	0.0001	7.352e-05	0.0001	0.0009	9.051e-05	8.534e-05	0.0006	0.0005	0	4.473e-05	3.828e-05	0	0	0.0009	6.206e-05	0.0002	0.0007	0.0001	0.0001	6.456e-05	0.0002	0.0015	7.623e-05	6.32e-05	0.0007	0.0005	0	0	6.593e-05	0	0	0	0	0.0001	0	0.0015	0.483	0.08188	T	0.589	0.11227	T	0.0	0.02946	B	0.009	0.14300	B	0.001481	0.00791	N	3.438500	1	0.08975	N	0.625	0.15840	N	-2.18	0.86722	D	-1.02	0.26843	N	0.198	0.23253	-0.7332	0.58801	T	0.418	0.76408	T	10	0.024738103	0.00691	T	0.093275	0.76044	D	0.254	0.56428	.	.	0.279370189704	0.27548	0.2983255275896754	0.29745	0.483371570109	0.47292	0.421390205622	0.28028	T	0.191927	0.54692	T	-0.362237	0.04005	T	-0.415374	0.31606	T	0.0402595698833466	0.03738	T	0.818018	0.47523	T	0.076635785	0.17344	0.06567997	0.13346	0.076635785	0.17343	0.06567997	0.13345	-2.072	0.03644	T	0.0714429026924326	0.02843	0.071	0.05668	B	.;.;.;.;.	.;.;.;.;.	1.087697	0.14711	11.26	0.38176797181275923	0.02559	0.06549	0.12562	N	AEFBI	0.207359	0.33354	N	-1.46172775267772	0.02126	0.09355688	-1.49467651410227	0.02387	0.1097215	0.0130269239081041	0.12406	0.615465	0.37627	0	0.633656	0.55848	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.92	-2.36	0.06282	0.201000	0.17074	0.089000	0.14491	-0.051000	0.17024	0.000000	0.06391	0.000000	0.08366	0.886000	0.42526	0.5119:0.0:0.206:0.282	4.658	0.12014	469	0.78175	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	503.98	33	chr7	87426904	.	A	T	503.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.361;DP=716;ExcessHet=0.0000;FS=1.328;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.60;ReadPosRankSum=0.203;SOR=1.022	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1158	20	0	1	0
chr7	89336269	89336269	T	C	exonic	ZNF804B	.	nonsynonymous SNV	ZNF804B:NM_181646:exon4:c.T3287C:p.I1096T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.218	B	0.05	B	0.010	N	0.854	N	0.975	L	3.45	T	-1.046	T	0.013	T	0.476	2.065	12.86	3.43	2.086	-0.011	8.981	0.055	0.00480320310704	.	.	0.0002	0	0	0	0	0	0.0011	0.0013	0.0001488	23	154602	rs763815136	9.373e-05	9.371e-05	5.038e-05	0.0001	0.0015	8.094e-05	7.586e-05	0.0013	0.0012	0	0	0	0	0	0	4.497e-06	9.935e-05	0.0015	2.628e-05	2.625e-05	1.286e-05	4.032e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.007	0.59928	D	0.038	0.51421	D	0.218	0.30213	B	0.05	0.25278	B	0.009622	0.30272	N	0.288561	0.854471	0.28448	N	2.48	0.72069	M	3.45	0.05311	T	-1.65	0.39503	N	0.152	0.15609	-1.0462	0.15476	T	0.013	0.05273	T	10	0.022179574	0.00547	T	0.004803	0.12004	T	0.055	0.15663	0.388	0.40951	0.104622674875	0.10061	0.0797743357107739	0.07912	0.0443273048903	0.04778	0.501161336899	0.38990	T	0.005171	0.04614	T	-0.471646	0.00830	T	-0.469277	0.25595	T	0.114851152866168	0.13919	T	0.542746	0.18485	T	0.13381405	0.31111	0.13255173	0.31805	0.13381405	0.31111	0.13255173	0.31804	-3.199	0.12468	T	.	.	0.129	0.31558	B	.;.	.;.	1.587432	0.20305	14.69	0.9937848266343019	0.61759	0.78758	0.38906	D	AEI	0.114913	0.22616	N	-0.19074734391315	0.33518	1.902534	-0.0534665421578368	0.37341	2.185032	9.55818757945004E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.68	3.43	0.38372	-0.047000	0.11917	0.232000	0.16202	0.665000	0.62972	0.915000	0.31815	0.983000	0.30585	0.995000	0.73285	0.166:0.0:0.0:0.834	8.981	0.35125	911	0.21964	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2281.98	49	chr7	89336269	.	T	C	2281.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.27;DP=1276;ExcessHet=0.0000;FS=6.397;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=2.07;SOR=0.438	GT:AD:DP:GQ:PL	0/0:125,0:125:99:0,120,1800	20	0	1	0
chr7	90161132	90161132	A	G	exonic	STEAP1	.	nonsynonymous SNV	STEAP1:NM_012449:exon3:c.A412G:p.I138V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.0	B	0.001	B	0.621	N	1.000	N	0.46	N	-2.65	D	-0.742	T	0.395	T	0.105	-1.089	0.153	-1.33	-0.484	0.191	2.076	0.154	0.0149072181665	.	.	1.653e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs777630691	7.526e-06	7.525e-06	5.446e-06	9.627e-06	0.0002	4.04e-06	2.95e-06	2.194e-05	1.43e-05	0	2.236e-05	0	0	0	0.0002	8.994e-07	4.969e-05	5.797e-05	6.571e-06	6.567e-06	1.285e-05	0	6.541e-05	0	0	.	.	0	0	6.541e-05	0	0	0	0	0	0	0	0.717	0.03961	T	0.976	0.02447	T	0.0	0.02946	B	0.001	0.04355	B	0.620890	0.10779	N	0.822623	1	0.08975	N	0.835	0.21042	L	-2.65	0.90210	D	-0.18	0.09796	N	0.041	0.01421	-0.7421	0.58344	T	0.395	0.74800	T	10	0.03587365	0.01857	T	0.014907	0.35329	T	0.154	0.40340	0.559	0.67821	0.716271271468	0.71378	0.2836992568020579	0.28282	0.0411607588953	0.04416	0.288178116083	0.08657	T	0.238451	0.60635	T	-0.268689	0.11903	T	-0.421076	0.30951	T	0.0213396880174899	0.00837	T	0.0614939	0.00448	T	0.023287525	0.01056	0.02286821	0.00305	0.023287525	0.01055	0.02286821	0.00305	-4.674	0.33088	T	.	.	0.052	0.00229	B	.	.	-0.178414	0.03203	0.530	0.6940039406608105	0.08960	0.00819	0.03310	N	AEFBI	0.062526	0.12025	N	-1.3983383222498	0.02654	0.1175073	-1.35133713441284	0.03790	0.1775187	7.03782795839353E-5	0.04366	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.17	-1.33	0.08693	0.249000	0.17989	-1.002000	0.06643	-0.899000	0.02337	0.000000	0.06391	0.000000	0.08366	0.909000	0.44452	0.2713:0.3271:0.2903:0.1114	2.076	0.03405	743	0.52768	Ferric reductase transmembrane component-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1502.98	145	chr7	90161132	.	A	G	1502.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.570e-01;DP=874;ExcessHet=0.0000;FS=1.326;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.93;MQRankSum=-1.217e+00;QD=10.37;ReadPosRankSum=-8.210e-01;SOR=0.542	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1305	20	0	1	0
chr7	90164511	90164511	C	A	exonic	STEAP1	.	nonsynonymous SNV	STEAP1:NM_012449:exon5:c.C797A:p.T266K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.986	D	0.573	P	0.000	D	1.000	D	2.9	M	2.74	T	-0.994	T	0.089	T	0.92	4.862	27.8	6.03	2.861	6.829	20.557	0.414	0.0886972665252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	0	1.377e-06	1.162e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.986	0.61523	D	0.573	0.49966	P	0.000009	0.62929	D	0.000000	0.999995	0.58761	D	3.325	0.90780	M	2.74	0.11730	T	-4.93	0.81755	D	0.943	0.95021	-0.9943	0.31485	T	0.089	0.34216	T	10	0.9616259	0.95579	D	0.088697	0.75184	D	0.414	0.72479	0.774	0.90002	0.58311486246	0.57984	0.9085828054918775	0.90831	0.133570330031	0.15039	0.574702978134	0.49341	T	0.528039	0.83616	D	0.237547	0.77429	D	0.103443	0.77134	D	0.997099995613098	0.90756	D	0.80142	0.44736	T	0.85153633	0.87450	0.8509034	0.91564	0.85153633	0.87452	0.8509034	0.91565	-13.501	0.91321	D	.	.	0.936	0.85539	P	.	.	4.894492	0.80387	27.3	0.99455766230666454	0.65530	0.98984	0.89542	D	AEFBI	0.822298	0.74266	D	0.820172085697089	0.87349	9.187822	0.82633795554952	0.91562	10.94998	0.99999821205909	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	6.973000	0.75901	7.717000	0.67122	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	20.557	0.99307	746	0.52331	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	877.98	38	chr7	90164511	.	C	A	877.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.21;DP=789;ExcessHet=0.0000;FS=2.333;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.11;ReadPosRankSum=-1.059e+00;SOR=0.410	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr7	90229904	90229904	G	T	exonic	STEAP2	.	nonsynonymous SNV	STEAP2:NM_001244945:exon4:c.G1053T:p.E351D	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.999	D	0.997	D	0.000	D	0.982	D	1.445	L	-2.87	D	0.411	D	0.750	D	0.249	3.461	17.73	1.67	0.423	0.760	11.776	0.442	0.0241795455926	.	.	8.252e-05	0	0	0	0	0	0	0.0006	6.47e-05	10	154602	rs759796385	3.08e-05	3.078e-05	1.498e-05	4.679e-05	0.0005	2.348e-05	2.096e-05	0.0004	0.0003	0	0	0	0	0	0.0003	0	0	0.0005	1.314e-05	1.312e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	7.293e-05	3.03e-05	0	0	0	0	0	0	0	0	0	0.0004	0.098	0.31532	T	0.231	0.25670	T	0.934	0.52202	P	0.788	0.57636	P	0.000000	0.84330	D	0.000000	0.98184	0.39823	D	1.725	0.44537	L	-2.87	0.91478	D	-1.02	0.26843	N	0.39	0.43320	0.411	0.89269	D	0.750	0.91472	D	10	0.18577349	0.34012	T	0.02418	0.47165	T	0.442	0.74518	0.316	0.29258	0.929001798407	0.92828	0.4605691904556926	0.45974	0.0844667912105	0.09542	0.529595971107	0.42977	T	0.277937	0.70838	T	-0.225256	0.17281	T	-0.200547	0.54595	T	0.185976162552834	0.19604	T	0.820918	0.48005	T	0.18629204	0.40030	0.18504782	0.41594	0.18629204	0.40030	0.18504782	0.41594	-5.612	0.43506	T	.	.	0.383	0.59860	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.881597	0.38135	20.7	0.99787336386596037	0.87308	0.75724	0.37091	D	AEFDGBHCI	0.227227	0.35107	N	0.268860440555326	0.54578	3.622996	0.236788518000428	0.51900	3.36879	0.999991548925086	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.93	1.67	0.23149	0.801000	0.26716	2.084000	0.30511	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.37:0.0:0.63:0.0	11.776	0.51255	675	0.60470	Ferric reductase transmembrane component-like domain;Ferric reductase transmembrane component-like domain;Ferric reductase transmembrane component-like domain;Ferric reductase transmembrane component-like domain;.;Ferric reductase transmembrane component-like domain;Ferric reductase transmembrane component-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1246.98	34	chr7	90229904	.	G	T	1246.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.018;DP=808;ExcessHet=0.0000;FS=2.594;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=-5.330e-01;SOR=0.970	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1529	20	0	1	0
chr7	90385066	90385066	T	A	exonic	GTPBP10	.	stopgain	GTPBP10:NM_001042717:exon8:c.T839A:p.L280X	.	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	N	1.000	D	.	.	.	.	.	.	.	.	.	3.837	19.49	5.52	2.090	6.359	14.206	.	.	0.0002	0.000199681	0.0003	0	0	0	0	0.0003	0.0011	0.0009	0.0002329	36	154602	rs201866556	0.0002	0.0002	0.0002	0.0003	0.0035	0.0002	0.0002	0.0023	0.0019	5.976e-05	8.944e-05	0.0023	0	0	0.0035	0.0001	0.0003	0.0012	0.0002	0.0002	0.0002	0.0002	0.0027	0.0001	0.0001	0.0016	0.0013	2.405e-05	0	6.538e-05	0.0014	0	0	0	0.0001	0.0005	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	0.175278	0.17256	N	0.530960	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.144	0.19325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.85015	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	8.206169	0.97295	37	0.98877404945850877	0.47754	0.99402	0.95569	D	AEFBI	0.110124	0.21849	N	1.00262465862252	0.95825	14.004	0.829107118631682	0.91739	11.04224	0.999999999611365	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635259	0.50027	0	.	.	5.52	5.52	0.82153	6.396000	0.73161	7.817000	0.69620	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.496000	0.28927	0.0:0.0:0.0:1.0	14.206	0.65274	674	0.60593	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1382.98	35	chr7	90385066	.	T	A	1382.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.52;DP=816;ExcessHet=0.0000;FS=0.765;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=-1.204e+00;SOR=0.813	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1206	20	0	1	0
chr7	91874600	91874600	G	A	exonic	MTERF1	.	nonsynonymous SNV	MTERF1:NM_001301134:exon2:c.C134T:p.T45I	.	.	435	1028	56	3	0	62	0.0292729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.0	B	0.0	B	0.248	N	1.000	N	0	N	2.14	T	-1.022	T	0.016	T	0.213	1.615	11.36	-5.02	-1.299	-0.074	2.209	0.038	.	0.0040	0.00559105	0.0068	0.0008	0.0039	0	0.0008	0.0054	0.0077	0.0246	0.0063777	986	154602	rs144315661	0.0060	0.0061	0.0053	0.0068	0.0242	0.0059	0.0059	0.0234	0.0230	0.0007	0.0049	0.0093	2.519e-05	0.0009	0.0189	0.0051	0.0065	0.0242	0.0037	0.0037	0.0036	0.0038	0.0193	0.0034	0.0033	0.0161	0.0150	0.0008	0.0022	0.0046	0.0078	0.0004	0.0005	0.0136	0.0046	0.0057	0.0193	0.022	0.53172	D	0.056	0.48336	T	0.0	0.02946	B	0.0	0.01387	B	0.248325	0.03630	N	1.642570	1	0.08975	N	.	.	.	2.14	0.19588	T	-1.41	0.46673	N	0.065	0.06454	-1.0217	0.23162	T	0.016	0.06616	T	10	0.0039517283	0.00076	T	.	.	.	0.038	0.09825	.	.	0.132336055621	0.12781	0.2644336759851309	0.26356	0.0143366314817	0.01361	0.268318295479	0.05923	T	0.04567	0.28255	T	-0.603668	0.00139	T	-0.620979	0.11108	T	0.000724357750141172	0.00007	T	0.316468	0.06291	T	0.072079584	0.16005	0.06939085	0.14615	0.072079584	0.16005	0.06939085	0.14614	-3.658	0.18700	T	.	.	0.085	0.13644	B	.;.;.;.;.	.;.;.;.;.	-0.333427	0.02474	0.287	0.96019872344555135	0.28471	0.08748	0.14631	N	AEFBI	0.060282	0.11445	N	-1.29027437057803	0.03791	0.1700041	-1.3719998385924	0.03553	0.1659791	0.267473086559066	0.18856	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.23	-5.02	0.02759	-0.051000	0.11840	0.012000	0.13456	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1521:0.15:0.2022:0.4958	2.209	0.03702	144	0.94257	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2584.98	41	chr7	91874600	.	G	A	2584.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.580e-01;DP=932;ExcessHet=0.0000;FS=1.198;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.94;ReadPosRankSum=-8.920e-01;SOR=0.810	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1068	20	0	1	0
chr7	92070930	92070930	C	T	exonic	AKAP9	.	nonsynonymous SNV	AKAP9:NM_001379277:exon7:c.C1178T:p.A393V	.	.	6	1514	2	0	0	2	0.000660066	.	.	2429361	Cardiovascular_phenotype	MedGen:CN230736	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.3	T	0.037	B	0.034	B	0.286	N	0.999	N	1.1	L	3.99	T	-0.946	T	0.011	T	0.172	2.260	13.51	3.84	0.848	0.877	7.827	0.039	0.0100025413468	.	.	9.904e-05	0	0	0	0	0	0	0.0007	7.76e-05	12	154602	rs772182187	4.995e-05	4.994e-05	1.362e-05	8.664e-05	0.0008	4.059e-05	3.734e-05	0.0007	0.0006	0	0	0	0	0	0.0002	8.995e-07	1.656e-05	0.0008	6.6e-06	6.575e-06	0	1.352e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.05	0.39575	D	0.266	0.22627	T	.	.	.	.	.	.	0.285616	0.14864	N	0.558433	0.999899	0.19781	N	.	.	.	3.99	0.03675	T	-1.74	0.41239	N	0.164	0.32921	-0.9457	0.41698	T	0.011	0.03949	T	10	0.024367362	0.00668	T	0.010003	0.26012	T	0.039	0.10176	.	.	0.310458034454	0.30648	0.06797565765847301	0.06735	0.0551435369125	0.06106	0.303374767303	0.10906	T	0.320929	0.69207	T	-0.504533	0.00539	T	-0.57549	0.14949	T	0.0472948989401995	0.05017	T	0.827917	0.50011	T	0.07877316	0.17960	0.09574423	0.22719	0.07877316	0.17960	0.09574423	0.22719	-3.616	0.18088	T	.	.	0.088	0.11701	B	.;.;.;.	.;.;.;.	2.029381	0.25788	16.89	0.97448431610943609	0.34017	0.33980	0.24959	N	AEFBI	0.130143	0.24858	N	-0.47704850414265	0.22836	1.222064	-0.369294124160989	0.25918	1.428314	0.588427356757512	0.21627	0.732398	0.92422	0	0.724815	0.89359	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.65	3.84	0.43422	0.897000	0.28022	1.193000	0.24780	0.599000	0.40250	0.038000	0.20882	0.600000	0.25714	0.994000	0.71098	0.0:0.7262:0.1344:0.1394	7.827	0.28483	364	0.84707	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	674.98	34	chr7	92070930	.	C	T	674.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.390;DP=642;ExcessHet=0.0000;FS=1.154;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.00;ReadPosRankSum=-3.450e-01;SOR=0.769	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,838	20	0	1	0
chr7	92097077	92097077	C	A	exonic	AKAP9	.	nonsynonymous SNV	AKAP9:NM_001379277:exon20:c.C4763A:p.S1588Y	.	.	0	1516	6	0	0	6	0.00197498	.	.	188458	not_provided|Congenital_long_QT_syndrome|Long_QT_syndrome|Cardiovascular_phenotype|Long_QT_syndrome_11|not_specified	MedGen:C3661900|MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN230736|MONDO:MONDO:0012738,MedGen:C2678483,OMIM:611820,Orphanet:101016,Orphanet:768|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.984	D	0.834	P	0.001	D	1.000	D	2.14	M	3.92	T	-1.190	T	0.036	T	0.458	2.389	13.95	4.67	2.776	1.679	10.875	0.156	0.0184676071563	0.0016	0.000599042	0.0015	0.0004	0.0002	0	0.0002	0.0011	0.0022	0.0061	0.0014359	222	154602	rs140470576	0.0015	0.0015	0.0013	0.0017	0.0068	0.0015	0.0014	0.0064	0.0062	0.0003	0.0002	0	2.519e-05	0.0004	0.0014	0.0014	0.0009	0.0068	0.0007	0.0007	0.0007	0.0008	0.0056	0.0006	0.0006	0.0039	0.0034	0.0001	0	0.0003	0	0	0.0002	0	0.0011	0.0009	0.0056	0.002	0.72154	D	0.338	0.18125	T	.	.	.	.	.	.	0.000911	0.41128	D	0.000000	0.919289	0.36630	D	.	.	.	3.9	0.03754	T	-3.27	0.67129	D	0.42	0.66358	-1.1904	0.00237	T	0.036	0.15334	T	10	0.0063156486	0.00143	T	0.018468	0.40544	T	0.156	0.40720	.	.	0.56468994859	0.56133	0.2724779982248035	0.27160	0.387895152768	0.40057	0.509882092476	0.40206	T	0.450511	0.79160	T	-0.441602	0.01266	T	-0.404078	0.32910	T	0.0539701249258138	0.06184	T	0.906909	0.71149	D	0.3017448	0.53060	0.36231387	0.61639	0.26991272	0.50063	0.37765428	0.62860	-4.781	0.34369	T	.	.	0.311	0.56251	B	.;.;.	.;.;.	3.869932	0.56179	23.7	0.9663424934339846	0.30527	0.91473	0.53605	D	AEFBI	0.308095	0.41478	N	0.569068034077492	0.71249	5.622477	0.56806353923655	0.72661	5.845525	0.0192822032185984	0.13147	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.56	4.67	0.58089	0.700000	0.25278	3.930000	0.40529	0.599000	0.40250	0.887000	0.31133	0.999000	0.35428	0.995000	0.73285	0.0:0.7967:0.1318:0.0715	10.875	0.46112	323	0.86843	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1861.98	33	chr7	92097077	.	C	A	1861.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.312e+00;DP=849;ExcessHet=0.0000;FS=8.894;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=1.11;SOR=1.351	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1061	20	0	1	0
chr7	92150539	92150539	C	G	exonic	LRRD1	.	nonsynonymous SNV	LRRD1:NM_001384932:exon3:c.G326C:p.R109T	.	.	430	1081	11	0	0	11	0.00506213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.997	D	.	.	0.997	D	2.835	M	1.45	T	1.004	D	0.907	D	0.866	4.491	24.1	5.76	2.710	3.666	17.741	0.583	0.258904812283	0.0004	0.000199681	0.0010	0	0	0	0.0006	0.0012	0	0.0013	0.0003558	55	154602	rs138031057	0.0012	0.0012	0.0013	0.0011	0.0048	0.0012	0.0011	0.0034	0.0029	3.197e-05	0.0004	0.0002	2.818e-05	0.0006	0.0048	0.0013	0.0014	0.0015	0.0009	0.0009	0.0010	0.0008	0.0017	0.0008	0.0007	0.0014	0.0013	0.0002	0	0.0003	0.0003	0	0.0003	0	0.0017	0.0024	0.0004	0.006	0.91255	D	0.011	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	0.997476	0.43918	D	2.455	0.71248	M	1.41	0.93111	T	-3.41	0.67129	D	0.432	0.47115	1.004	0.97261	D	0.907	0.96906	D	9	0.059993923	0.07301	T	0.258905	0.89426	D	0.583	0.83249	.	.	0.592167511858	0.58893	0.3163444304276735	0.31547	.	.	0.525310754776	0.42374	T	0.007308	0.06724	T	0.0873978	0.62896	D	0.33375	0.89663	D	0.0980810827425068	0.12145	T	0.605339	0.35069	T	0.47638044	0.65680	0.44925976	0.67942	0.47638044	0.65681	0.44925976	0.67942	-3.62	0.18147	T	.	.	0.339	0.67234	B	.;.;.	.;.;.	4.038526	0.59774	24.1	0.98599194234732856	0.43480	0.94075	0.60037	D	AEFBI	0.539851	0.55666	D	0.830207605354918	0.87955	9.400344	0.78953061503898	0.89055	9.820915	0.999820471907713	0.43622	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.76	5.76	0.90726	3.759000	0.54939	4.855000	0.45413	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	17.741	0.88315	273	0.89298	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	996.98	35	chr7	92150539	.	C	G	996.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.120e-01;DP=752;ExcessHet=0.0000;FS=3.531;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.88;ReadPosRankSum=-7.920e-01;SOR=0.360	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1179	20	0	1	0
chr7	92245667	92245783	GCCCAGCTTCCTGTGGCAGAAAAACCCTCAGTCGCCAAAAGAAAGCCGTCTTGAGGGTTCCCCCGCGCTCCCACCCGCGCCCCAAAAGCTCAGGTCTCTGGAGTCGGAGACCCTCCT	-	splicing	KRIT1	.	.	.	Cavernous malformations of CNS and retina, Autosomal dominant;Cerebral cavernous malformations-1, Autosomal dominant;Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	65.4	5	chr7	92245666	.	GGCCCAGCTTCCTGTGGCAGAAAAACCCTCAGTCGCCAAAAGAAAGCCGTCTTGAGGGTTCCCCCGCGCTCCCACCCGCGCCCCAAAAGCTCAGGTCTCTGGAGTCGGAGACCCTCCT	G	65.4	.	AC=1;AF=0.033;AN=30;BaseQRankSum=0.674;DP=70;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1151;MLEAC=2;MLEAF=0.067;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=0.524;SOR=0.368	GT:AD:DP:GQ:PL	./.	14	0	1	6
chr7	92398714	92398714	A	G	exonic	ANKIB1	.	nonsynonymous SNV	ANKIB1:NM_019004:exon20:c.A3035G:p.K1012R,	.	.	428	1085	9	0	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.081	N	1.000	N	-0.55	N	3.02	T	-0.926	T	0.008	T	0.019	-1.460	0.019	3.53	0.919	0.606	7.302	0.048	0.00186853546104	0.0004	0.000399361	0.0007	0	0.0003	0	0	0.0004	0	0.0032	0.0005692	88	154602	rs200594136	0.0004	0.0004	0.0003	0.0005	0.0035	0.0004	0.0003	0.0032	0.0031	2.987e-05	0.0007	0	0	0	0.0024	0.0002	0.0006	0.0035	0.0004	0.0004	0.0003	0.0005	0.0035	0.0003	0.0003	0.0022	0.0018	7.217e-05	0	0.0012	0	0	0	0	0.0003	0.0014	0.0035	1.0	0.00964	T	0.758	0.04669	T	0.0	0.02946	B	0.0	0.01387	B	0.080748	0.20906	N	0.541750	1	0.08975	N	-0.55	0.02420	N	3.02	0.08986	T	0.17	0.05125	N	0.014	0.00160	-0.9257	0.44758	T	0.008	0.02679	T	10	0.004474491	0.00092	T	0.001869	0.03272	T	0.048	0.13305	.	.	0.0934897674506	0.08844	0.07853831651251968	0.07788	0.0585878493538	0.06494	0.282645702362	0.07865	T	0.010218	0.09245	T	-0.717849	0.00028	T	-0.806967	0.01734	T	0.00561764286627731	0.00061	T	0.562944	0.19809	T	0.022275891	0.00879	0.026650626	0.00766	0.022275891	0.00879	0.026650626	0.00766	-2.513	0.05870	T	.	.	0.062	0.01328	B	.	.	1.300029	0.17018	12.91	0.10474812889946621	0.00133	0.02017	0.06061	N	AEFBI	0.022604	0.01152	N	-1.15549944004457	0.05690	0.2600451	-1.00659958343286	0.09639	0.4807482	0.00947765323706428	0.11861	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.34	3.53	0.39533	0.465000	0.21715	2.806000	0.34880	-0.137000	0.12594	0.061000	0.21800	1.000000	0.68203	0.965000	0.52897	0.1593:0.1989:0.6418:0.0	7.302	0.25598	586	0.69252	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1942.98	33	chr7	92398714	.	A	G	1942.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.932e+00;DP=898;ExcessHet=0.0000;FS=1.264;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=0.374;SOR=0.565	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1073	20	0	1	0
chr7	92447943	92447943	C	T	exonic	GATAD1	.	nonsynonymous SNV	GATAD1:NM_021167:exon1:c.C214T:p.P72S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.0	B	0.0	B	0.030	N	0.903	D	-0.625	N	-2.18	D	-0.770	T	0.232	T	0.048	1.664	11.52	3.07	2.206	2.416	1.159	0.230	0.890241675254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	0.10838	T	0.651	0.06713	T	0.0	0.02946	B	0.0	0.01387	B	0.030361	0.25321	N	0.410879	0.903	0.36211	D	0.345	0.11182	N	-2.18	0.86722	D	-0.27	0.11366	N	0.14	0.13911	-0.7700	0.56857	T	0.232	0.59867	T	10	0.1668505	0.31145	T	0.890242	0.99168	D	0.230	0.53062	0.149	0.05238	0.158540857583	0.15491	0.1014007951340215	0.10071	0.303909260197	0.32711	0.845026016235	0.88861	D	0.002649	0.02045	T	-0.0442963	0.45310	T	-0.301405	0.44575	T	0.282532662153244	0.24277	T	0.526147	0.17328	T	0.054134626	0.10343	0.0863909	0.20013	0.054134626	0.10343	0.0863909	0.20012	-3.031	0.10519	T	0.06791209328016723	0.02426	0.051	0.00187	B	.	.	2.873154	0.37996	20.6	0.96476468468049859	0.29956	0.37876	0.25861	N	AEFDBHCI	0.068176	0.13438	N	-0.515991803041477	0.21562	1.145268	-0.313027697627024	0.27677	1.537515	0.999999993014996	0.74766	0.242642	0.04205	2	0.484254	0.07192	0	0.391439	0.06340	0	0.492483	0.08430	1	.	.	3.96	3.07	0.34476	2.527000	0.45275	3.618000	0.39276	0.596000	0.33519	0.984000	0.35821	0.997000	0.33255	0.540000	0.29938	0.1935:0.4315:0.1872:0.1879	1.159	0.01692	658	0.62094	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	433.98	42	chr7	92447943	.	C	T	433.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=759;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.00;ReadPosRankSum=-1.345e+00;SOR=1.179	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1353	20	0	1	0
chr7	92468857	92468857	G	A	exonic	ERVW-1	.	stopgain	ERVW-1:NM_014590:exon1:c.C1525T:p.R509X	.	.	547	954	20	1	0	22	0.011399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.93	T	.	.	.	.	1.000	U	0.983	D	.	.	.	.	.	.	.	.	.	9.687	42	0.046	0.132	0.170	.	.	.	0.0003	0.00419329	0.0023	0	0.0002	0	0	0.0004	0.0011	0.0149	0.0019922	308	154602	rs151180490	0.0019	0.0018	0.0010	0.0026	0.0138	0.0018	0.0017	0.0131	0.0128	0.0002	0.0004	0	0	0	0.0028	0.0003	0.0009	0.0138	0.0006	0.0006	0.0004	0.0008	0.0124	0.0005	0.0004	0.0099	0.0090	4.813e-05	0	0.0002	0	0	9.425e-05	0	0.0003	0.0005	0.0124	.	.	.	.	.	.	.	.	.	.	.	.	1.000000	0.07966	U	0.401907	0.982513	0.39901	D	.	.	.	.	.	.	.	.	.	0.047	0.03283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.329443	0.85126	D	0.235446	0.84931	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	5.493266	0.91505	32	0.95310512125171376	0.26643	0.00403	0.02011	N	AEFI	0.057299	0.10661	N	-0.190765025704405	0.33518	1.902482	-0.611221551837486	0.19205	1.029351	2.73524271504788E-4	0.06300	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.046	0.046	0.13572	0.171000	0.16497	-0.495000	0.08836	0.171000	0.17763	0.124000	0.23245	0.019000	0.20708	0.138000	0.19872	.	.	.	609	0.67094	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025	106.33	32	chr7	92468857	.	G	A	106.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=3.51;DP=579;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=3.80;ReadPosRankSum=-5.410e-01;SOR=1.091	GT:AD:DP:GQ:PL	0/1:23,5:28:99:120,0,601	19	0	1	1
chr7	92491337	92491337	T	A	exonic	PEX1	.	nonsynonymous SNV	PEX1:NM_001282677:exon20:c.A3202T:p.M1068L	Heimler syndrome 1, Autosomal recessive;Peroxisome biogenesis disorder 1A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 1B (NALD/IRD), Autosomal recessive	.	1	1517	3	1	0	5	0.00164528	.	.	307030	Zellweger_spectrum_disorders|PEX1-related_disorder|Heimler_syndrome_1|not_provided|Peroxisome_biogenesis_disorder_1A_(Zellweger)	MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912|.|MedGen:C4551980,OMIM:234580,Orphanet:3220|MedGen:C3661900|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.11	T	0.016	B	0.012	B	0.000	D	1.000	D	1.355	L	-3.21	D	0.056	D	0.653	D	0.354	2.919	15.73	3.02	0.991	2.388	9.518	0.304	0.0619099012312	0.0012	0.000199681	0.0011	0.0003	8.654e-05	0	0.0002	0.0012	0.0011	0.0033	0.0011255	174	154602	rs142994610	0.0014	0.0014	0.0013	0.0015	0.0042	0.0014	0.0014	0.0038	0.0037	0.0002	8.944e-05	0	0	0.0004	0.0012	0.0015	0.0009	0.0042	0.0007	0.0007	0.0007	0.0007	0.0037	0.0006	0.0006	0.0024	0.0020	0.0002	0	0.0002	0	0	0.0002	0	0.0011	0.0009	0.0037	0.024	0.47745	D	0.195	0.28032	T	0.007	0.14184	B	0.009	0.14300	B	0.000068	0.52346	D	0.233626	0.841472	0.35074	D	1.085	0.27262	L	-3.21	0.93587	D	-1.19	0.30346	N	0.273	0.40765	0.056	0.83354	D	0.653	0.87931	D	10	0.014987916	0.00315	T	0.06191	0.68485	D	0.304	0.62510	0.415	0.45380	0.695104319578	0.69247	0.4695382514306108	0.46872	0.14842254782	0.16736	0.406937927008	0.26033	T	0.051648	0.35865	T	-0.211481	0.19172	T	-0.0777098	0.65072	T	0.0175408729895588	0.00488	T	0.775622	0.40735	T	0.13179052	0.30707	0.1972771	0.43502	0.15422188	0.34918	0.16939329	0.38969	-1.677	0.03490	T	0.19053127695279345	0.24965	0.154	0.49855	B	.;.;.	.;.;.	2.706781	0.35375	19.88	0.94144736665623285	0.24337	0.95947	0.66845	D	AEFBI	0.468269	0.51514	N	-0.221882819568338	0.32237	1.815899	-0.0754813125908206	0.36406	2.118335	0.0394880515344295	0.14396	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.4	3.02	0.33970	2.370000	0.43893	2.368000	0.32412	0.609000	0.47794	1.000000	0.71638	0.998000	0.33993	0.992000	0.67800	0.0:0.1443:0.0:0.8557	9.518	0.38282	733	0.53988	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1480.98	36	chr7	92491337	.	T	A	1480.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=852;ExcessHet=0.0000;FS=2.029;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.37;ReadPosRankSum=0.769;SOR=0.544	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	20	0	1	0
chr7	92517375	92517375	C	G	exonic	PEX1	.	nonsynonymous SNV	PEX1:NM_000466:exon5:c.G1140C:p.K380N	Heimler syndrome 1, Autosomal recessive;Peroxisome biogenesis disorder 1A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 1B (NALD/IRD), Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.363	B	0.075	B	0.019	N	1.000	N	1.04	L	-3.4	D	-0.359	T	0.603	D	0.122	0.897	8.644	3.12	0.389	0.619	4.650	0.109	0.0475338403156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.17584	T	0.336	0.25061	T	0.363	0.33965	B	0.075	0.28327	B	0.019306	0.27286	N	0.456434	1	0.08975	N	2.045	0.56016	M	-3.4	0.94469	D	-1.55	0.37566	N	0.155	0.17691	-0.3587	0.73301	T	0.603	0.85889	D	10	0.08887786	0.15343	T	0.047534	0.62965	D	0.109	0.30843	0.401	0.43081	0.716802317414	0.71431	0.3910058426918759	0.39015	0.186505350035	0.20959	0.336459964514	0.15907	T	0.062784	0.36043	T	-0.00308928	0.51229	T	-0.242214	0.50583	T	0.312265932559967	0.25507	T	0.59684	0.22875	T	0.09054874	0.21191	0.05573271	0.09829	0.09054874	0.21190	0.05573271	0.09828	-3.984	0.23563	T	0.11421790710218607	0.10084	0.114	0.29367	B	.;.	.;.	0.689255	0.10580	7.285	0.99365745136551376	0.61198	0.16758	0.19535	N	AEFBI	0.121693	0.23648	N	-0.700700529756348	0.16002	0.8114796	-0.702350992884245	0.16902	0.8963152	0.234847843809107	0.18506	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.94	3.12	0.34986	0.347000	0.19760	0.241000	0.16308	0.599000	0.40250	0.025000	0.20085	0.001000	0.17328	0.697000	0.34049	0.2559:0.5066:0.0:0.2375	4.650	0.11978	798	0.45050	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.1923	826.23	74	chr7	92517375	.	C	T,G	826.23	.	AC=4,1;AF=0.154,0.038;AN=26;BaseQRankSum=-3.290e+00;DP=1775;ExcessHet=1.1607;FS=208.468;InbreedingCoeff=-0.2780;MLEAC=6,1;MLEAF=0.231,0.038;MQ=60.00;MQRankSum=0.00;QD=1.39;ReadPosRankSum=0.648;SOR=9.953	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:75,0,0:75:0:.:.:0,0,1498,0,1498,1498	8	0	4	8
chr7	92534705	92534705	C	A	exonic	RBM48	.	nonsynonymous SNV	RBM48:NM_001363366:exon4:c.C752A:p.S251Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.015	B	0.132	B	0.916	N	1.000	N	0.895	L	.	.	-1.017	T	0.085	T	0.07	0.912	8.713	3.71	2.543	0.393	3.880	0.087	0.0062653100251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.55530	D	0.065	0.44702	T	0.003	0.11197	B	0.001	0.04355	B	0.915586	0.08523	N	0.961885	1	0.08975	N	0	0.06538	N	.	.	.	-1.5	0.36586	N	0.148	0.15046	-1.0172	0.24625	T	0.085	0.33128	T	9	0.08715528	0.14886	T	0.006265	0.16435	T	0.087	0.25287	0.243	0.17677	0.618611905951	0.61553	0.14619781876178406	0.14541	0.270108457044	0.29533	0.260625034571	0.04965	T	0.029107	0.20930	T	-0.277222	0.10964	T	-0.635986	0.09965	T	0.160240928153912	0.17890	T	0.667233	0.27634	T	0.048679784	0.08522	0.079567455	0.17924	0.048679784	0.08522	0.079567455	0.17923	-4.927	0.36037	T	0.1707462170240297	0.21486	0.081	0.12938	B	.;.	.;.	0.777332	0.11474	8.077	0.76655685572855359	0.11556	0.11477	0.16660	N	AEFDGBHI	0.048175	0.08193	N	-0.642322433097636	0.17684	0.9120809	-0.640614740980239	0.18455	0.9858883	0.997401775550284	0.35583	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.6	3.71	0.41733	0.357000	0.19935	1.622000	0.27692	0.549000	0.26987	0.004000	0.16614	0.002000	0.18203	0.005000	0.06747	0.0:0.5824:0.2395:0.1781	3.880	0.08578	823	0.40596	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1369.98	33	chr7	92534705	.	C	A	1369.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.459e+00;DP=835;ExcessHet=0.0000;FS=0.703;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=-7.750e-01;SOR=0.616	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1125	20	0	1	0
chr7	92578163	92578163	T	C	exonic	FAM133B	.	nonsynonymous SNV	FAM133B:NM_001288584:exon5:c.A266G:p.K89R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.987	D	.	.	0.999	D	2.08	M	0.91	T	-0.580	T	0.253	T	0.474	3.603	18.34	5.63	2.269	6.683	16.133	0.188	0.0213756774825	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1204184996	2.743e-06	3.42e-06	2.729e-06	2.758e-06	3.524e-05	6.4e-07	4.3e-07	9.36e-06	4.6e-06	0	0	0	0	0	0	0	1.661e-05	3.524e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.29288	T	0.069	0.43913	T	0.996	0.68779	D	0.987	0.77487	D	.	.	.	.	0.999148	0.46174	D	1.78	0.46185	L	0.91	0.44856	T	-1.38	0.34198	N	0.536	0.56919	-0.5797	0.65629	T	0.253	0.62303	T	9	0.409906	0.56152	T	0.021376	0.44139	T	0.188	0.46444	0.211	0.12923	0.53730890811	0.53382	0.061903733142911144	0.06130	0.193333280762	0.21667	0.705307424068	0.67912	T	0.037571	0.24522	T	-0.142358	0.29516	T	-0.33932	0.40421	T	0.487322121858597	0.32166	T	0.857714	0.54741	D	0.17764471	0.38742	0.23379876	0.48579	0.17764471	0.38742	0.23379876	0.48578	-5.773	0.44338	T	.	.	0.122	0.25429	B	.;.;.	.;.;.	3.544993	0.49806	22.8	0.99457130971191055	0.65581	0.99539	0.97221	D	AEFBI	0.797867	0.72458	D	0.755545070354388	0.83265	7.972516	0.743915931152111	0.85703	8.65998	0.999999999921463	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	5.63	5.63	0.86108	6.247000	0.72367	5.107000	0.47483	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.133	0.81265	797	0.45241	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	1306.33	36	chr7	92578163	.	T	C	1306.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-5.200e-02;DP=757;ExcessHet=0.0000;FS=2.801;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=0.917;SOR=0.427	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1172	19	0	1	1
chr7	93101432	93101432	C	T	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G4666A:p.A1556T	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	1	1496	25	0	0	25	0.00828638	.	.	700284	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.3	T	0.008	B	0.003	B	0.754	N	1.000	N	1.5	L	1.86	T	-1.004	T	0.035	T	0.07	0.924	8.764	-2.05	-0.334	0.961	10.236	0.048	.	0.0048	0.00359425	0.0059	0.0015	0.0049	0	0.0073	0.0083	0.0099	0.0017	0.0057632	891	154602	rs34896991	0.0063	0.0063	0.0064	0.0062	0.0071	0.0062	0.0062	0.0070	0.0070	0.0008	0.0065	0.0021	0.0003	0.0072	0.0043	0.0071	0.0054	0.0019	0.0045	0.0045	0.0044	0.0047	0.0068	0.0043	0.0041	0.0062	0.0060	0.0012	0	0.0052	0.0023	0.0002	0.0072	0.0034	0.0068	0.0052	0.0010	0.212	0.19500	T	0.079	0.42086	T	0.008	0.14655	B	0.003	0.08700	B	0.754046	0.09677	N	0.865024	1	0.08975	N	1.355	0.33814	L	1.86	0.24285	T	-0.71	0.20145	N	0.025	0.01004	-1.0039	0.28785	T	0.035	0.15247	T	10	0.0029645562	0.00048	T	.	.	.	0.048	0.13305	.	.	0.348983352498	0.34513	0.6272587216299133	0.62658	0.160453842273	0.18105	0.292616605759	0.09304	T	0.003878	0.03292	T	-0.657699	0.00065	T	-0.709554	0.05318	T	0.00963621829570929	0.00125	T	0.454355	0.12956	T	0.027358465	0.01916	0.046490066	0.06491	0.03489814	0.04004	0.046490066	0.06491	-3.564	0.17338	T	0.3150631741536978	0.41308	0.071	0.03925	B	.;.	.;.	0.561062	0.09297	6.078	0.88000363444403584	0.17641	0.07416	0.13435	N	AEFBI	0.050557	0.08847	N	-1.05932818597743	0.07406	0.3439248	-1.10292291870029	0.07644	0.3726435	0.027901927115823	0.13801	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.34	-2.05	0.06916	0.640000	0.24394	-0.433000	0.09209	-0.813000	0.03045	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.7081:0.0:0.2919	10.236	0.42457	808	0.43318	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	661.98	34	chr7	93101432	.	C	T	661.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.238;DP=737;ExcessHet=0.0000;FS=2.584;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.41;ReadPosRankSum=-1.564e+00;SOR=1.148	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1285	20	0	1	0
chr7	93101794	93101794	G	A	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.C4304T:p.A1435V	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.997	D	0.887	P	0.000	D	0.960	D	1.355	L	1.81	T	-1.035	T	0.107	T	0.592	3.962	20.3	4.35	2.411	7.059	15.932	0.188	0.00661034606428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.0	0.92824	D	0.997	0.70673	D	0.887	0.62952	P	0.000144	0.49130	D	0.078191	0.960491	0.38183	D	2.35	0.67516	M	1.81	0.25182	T	-1.17	0.29933	N	0.527	0.55626	-1.0346	0.18983	T	0.107	0.38906	T	10	0.5147096	0.62299	D	0.00661	0.17444	T	0.188	0.46444	0.343	0.33626	0.405839309607	0.40195	0.25079414112991283	0.24993	0.655654456788	0.58598	0.497941374779	0.38541	T	0.016555	0.13660	T	-0.0574532	0.43303	T	-0.320304	0.42542	T	0.974688947200775	0.70612	D	0.867113	0.56785	D	0.1291053	0.30164	0.11630892	0.28078	0.1291053	0.30164	0.11630892	0.28077	-5.699	0.43685	T	0.4739927135675689	0.55390	0.533	0.66042	A	.;.	.;.	3.682887	0.52433	23.2	0.99880291061353033	0.95653	0.97376	0.74358	D	AEFBI	0.667246	0.63544	D	0.397249371701293	0.61272	4.326125	0.321927718060265	0.56830	3.847072	0.999999813156593	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.35	4.35	0.51454	7.122000	0.76789	9.581000	0.81029	0.654000	0.53741	0.996000	0.39380	1.000000	0.68203	0.083000	0.17415	0.0:0.0:1.0:0.0	15.932	0.79459	808	0.43318	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2148.98	34	chr7	93101794	.	G	A	2148.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.427e+00;DP=885;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=-1.421e+00;SOR=0.673	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1285	20	0	1	0
chr7	93102964	93102964	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3134C:p.G1045A	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.278	B	0.057	B	0.039	N	0.999	N	0.55	N	2.78	T	-1.004	T	0.025	T	0.135	-1.573	0.014	0.721	0.204	1.133	8.086	0.019	0.00364362051594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.739e-06	0.0001	2.726e-06	2.753e-06	2.701e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	3.828e-05	0	0	0	2.701e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.11994	T	0.365	0.16717	T	0.278	0.32022	B	0.057	0.26280	B	0.038933	0.24228	N	0.350345	0.999403	0.21245	N	1.395	0.35261	L	1.98	0.21865	T	-0.26	0.11185	N	0.172	0.18376	-1.0035	0.28903	T	0.025	0.10866	T	10	0.101587355	0.18570	T	0.003644	0.08371	T	0.019	0.03383	0.111	0.02112	0.462721901306	0.45895	0.30406387633743254	0.30319	0.206316586236	0.23055	0.261323869228	0.05050	T	0.005306	0.11036	T	-0.27156	0.11583	T	-0.627853	0.10578	T	0.260672181844711	0.23344	T	0.427357	0.11519	T	0.026715023	0.01764	0.03884978	0.03847	0.026715023	0.01763	0.03884978	0.03846	-5.641	0.43165	T	0.1164478318514886	0.10529	0.110	0.22135	B	.;.;.	.;.;.	1.711545	0.21796	15.35	0.15711081566189278	0.00394	0.77281	0.37980	D	AEFBI	0.241180	0.36284	N	-0.496248800179662	0.22203	1.183913	-0.415350861612596	0.24546	1.344766	0.0736999754895762	0.15642	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	0.721	0.17373	1.167000	0.31456	-0.698000	0.07808	-0.200000	0.08971	0.996000	0.39380	0.000000	0.08366	0.044000	0.14658	0.0:0.4337:0.0:0.5663	8.086	0.29933	806	0.43582	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2857	1784.86	153	chr7	93102964	.	C	G	1784.86	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-6.633e+00;DP=3581;ExcessHet=9.6308;FS=118.636;InbreedingCoeff=-0.4288;MLEAC=12;MLEAF=0.286;MQ=60.00;MQRankSum=0.00;QD=0.78;ReadPosRankSum=0.355;SOR=12.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,36:193:99:0|1:93102964_C_G:189,0,5648:93102964	9	0	12	0
chr7	93102965	93102965	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3133C:p.G1045R	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.013	B	0.007	B	0.039	N	0.999	N	1.1	L	2.77	T	-1.040	T	0.033	T	0.114	0.260	5.406	-0.384	-0.014	1.650	6.198	0.038	0.00358717597943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.121e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.086	0.40909	T	0.013	0.16609	B	0.007	0.12992	B	0.038933	0.24228	N	0.350345	0.998976	0.21747	N	2.2	0.62015	M	1.96	0.22270	T	-0.4	0.15782	N	0.133	0.12913	-1.0400	0.17313	T	0.033	0.13986	T	10	0.07416803	0.11303	T	0.003587	0.08216	T	0.038	0.09825	0.132	0.03662	0.251639045875	0.24756	0.3058776317445259	0.30500	0.186022872039	0.20906	0.28491345048	0.08187	T	0.005275	0.11722	T	-0.261545	0.12721	T	-0.613468	0.11704	T	0.236644327640533	0.22264	T	0.470853	0.13943	T	0.04599401	0.07624	0.049176365	0.07460	0.04599401	0.07624	0.049176365	0.07460	-5.327	0.40209	T	0.14989570008231407	0.17564	0.173	0.38025	B	.;.;.	.;.;.	2.737985	0.35852	20.1	0.81866065481440609	0.13900	0.88541	0.48516	D	AEFBI	0.296760	0.40652	N	-1.00286225320604	0.08544	0.4010124	-0.91137622340653	0.11826	0.6048167	0.111460904489544	0.16659	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	-0.384	0.11853	2.801000	0.47603	1.030000	0.23473	-1.635000	0.00848	0.985000	0.35982	0.000000	0.08366	0.009000	0.08673	0.0:0.5765:0.1236:0.2999	6.198	0.19775	806	0.43582	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4524	3255.88	153	chr7	93102965	.	C	G	3255.88	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-5.671e+00;DP=4087;ExcessHet=36.0830;FS=132.372;InbreedingCoeff=-0.8389;MLEAC=19;MLEAF=0.452;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=0.452;SOR=13.128	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,36:193:99:0|1:93102964_C_G:189,0,5648:93102964	2	0	19	0
chr7	93105410	93105410	G	A	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.C688T:p.R230C	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	0	1517	5	0	0	5	0.00164528	.	.	1421030	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.988	D	0.000	D	1.000	D	1.905	M	2.39	T	-1.016	T	0.109	T	0.825	4.036	20.7	4.56	2.526	5.912	16.388	0.328	0.00818323618574	.	0.000199681	3.295e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs530971102	2.394e-05	2.463e-05	2.314e-05	2.475e-05	0.0003	1.739e-05	1.539e-05	0.0001	0.0001	5.974e-05	0	0	2.52e-05	0	0.0003	8.094e-06	6.623e-05	0.0002	2.629e-05	2.625e-05	3.857e-05	1.345e-05	0.0004	8.14e-06	5.14e-06	7.296e-05	3.031e-05	0	0	6.546e-05	0	0	0	0	1.471e-05	0	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.988	0.77976	D	0.000005	0.62929	D	0.000000	0.999534	0.47451	D	2.61	0.76335	M	2.39	0.15724	T	-4.87	0.81269	D	0.569	0.63120	-1.0163	0.24916	T	0.109	0.39486	T	10	0.53499955	0.63397	D	0.008183	0.21674	T	0.328	0.65026	0.573	0.69695	0.639676494308	0.63670	0.7302685519726966	0.72971	0.76600582791	0.64516	0.662169158459	0.61719	T	0.21744	0.69556	T	-0.0826568	0.39281	T	-0.0822076	0.64741	T	0.924092531204224	0.58509	D	0.819918	0.47811	T	0.5267959	0.68648	0.3917085	0.63934	0.5267959	0.68649	0.3917085	0.63934	-7.454	0.57286	T	.	.	0.402	0.68433	A	.;.;.	.;.;.	5.180421	0.86860	29.0	0.9992865733481322	0.99222	0.97448	0.74815	D	AEFBI	0.763094	0.70030	D	0.71055424706074	0.80326	7.26928	0.673437557536361	0.80365	7.283102	0.999619952047922	0.40981	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.635551	0.53088	0	.	.	4.56	4.56	0.55644	4.952000	0.63320	7.346000	0.58272	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.388	0.83358	799	0.44747	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3144.98	41	chr7	93105410	.	G	A	3144.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.10;DP=1534;ExcessHet=0.0000;FS=4.199;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=-8.900e-01;SOR=0.951	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,102,1530	20	0	1	0
chr7	93131578	93131578	C	T	exonic	SAMD9L	.	nonsynonymous SNV	SAMD9L:NM_001303500:exon4:c.G4394A:p.R1465H	Ataxia-pancytopenia syndrome, Autosomal dominant	.	434	1085	3	0	0	3	0.00138058	.	.	750842	Inborn_genetic_diseases|not_provided|not_specified	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.003	B	0.002	B	0.077	N	1.000	N	-1.525	N	2.0	T	-0.981	T	0.011	T	0.033	-0.757	0.796	-4.74	-0.820	-0.332	3.663	0.015	.	.	0.00219649	0.0016	0	0.0002	0.0005	0	0	0.0011	0.0113	0.0013648	211	154602	rs190393069	0.0007	0.0007	0.0004	0.0010	0.0111	0.0007	0.0007	0.0106	0.0103	5.977e-05	4.474e-05	0	0.0003	0	0.0007	6.296e-06	0.0008	0.0111	0.0004	0.0004	0.0002	0.0006	0.0110	0.0003	0.0003	0.0086	0.0078	0	0	6.547e-05	0	0.0002	0	0	1.47e-05	0.0005	0.0110	1.0	0.00964	T	0.352	0.17372	T	0.003	0.11197	B	0.002	0.06944	B	0.076975	0.02312	N	1.925070	1	0.08975	N	-0.66	0.02073	N	2.0	0.21473	T	1.79	0.00519	N	0.035	0.01658	-0.9809	0.34794	T	0.011	0.04227	T	10	0.0028817654	0.00046	T	.	.	.	0.015	0.02232	.	.	0.222439326576	0.21863	0.0675288426742765	0.06690	0.228233673395	0.25376	0.187215164304	0.00180	T	0.003324	0.02728	T	-0.731631	0.00023	T	-0.814318	0.01571	T	0.00431698737644493	0.00046	T	0.286271	0.08016	T	0.015490705	0.00141	0.02167845	0.00211	0.02061566	0.00626	0.021816667	0.00221	-3.885	0.26228	T	0.08852680020532623	0.05315	0.078	0.13876	B	.;.;.;.	.;.;.;.	-0.631676	0.01487	0.093	0.37381915144333516	0.02460	0.00660	0.02859	N	AEFBI	0.071223	0.14170	N	-1.68615706722313	0.00892	0.03860802	-1.60293300808144	0.01638	0.07431818	0.00156878722735161	0.08647	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.22	-4.74	0.03013	-1.138000	0.03327	-2.557000	0.03611	-0.394000	0.05329	0.000000	0.06391	0.000000	0.08366	0.842000	0.39752	0.1079:0.1396:0.2132:0.5393	3.663	0.07783	810	0.42761	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2859.98	36	chr7	93131578	.	C	T	2859.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.54;DP=1090;ExcessHet=0.0000;FS=4.775;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.88;ReadPosRankSum=0.248;SOR=0.923	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1130	20	0	1	0
chr7	93462091	93462091	G	A	exonic	CALCR	.	nonsynonymous SNV	CALCR:NM_001164737:exon9:c.C541T:p.P181S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.007	B	0.005	B	.	.	1.000	N	0	N	0.85	T	-1.040	T	0.057	T	0.144	-1.182	0.082	-0.438	-0.124	-0.011	5.079	0.011	0.00141853476308	.	.	.	.	.	.	.	.	.	.	.	.	.	rs865850060	2.222e-06	4.79e-06	0	4.489e-06	0.0004	5.9e-07	1.6e-07	6.261e-05	2.584e-05	0	0	0	0	0	0.0004	0	0	1.328e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.84	0.47477	T	-0.36	0.13035	N	0.221	0.27435	-1.0403	0.17223	T	0.057	0.23904	T	9	0.0828574	0.13721	T	0.001419	0.02113	T	0.011	0.01250	.	.	0.467923293426	0.46417	0.1811747590268649	0.18036	0.186215798921	0.20930	.	.	.	0.012055	0.10661	T	-0.238385	0.15554	T	-0.5802	0.14526	T	0.0822226216782771	0.10270	T	0.481352	0.14557	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.28521	B	.;.;.	.;.;.	1.005635	0.13845	10.40	0.22042950492082761	0.00868	0.03477	0.08637	N	AEFI	0.029594	0.02822	N	-1.16151876924869	0.05593	0.2553732	-1.17722233976554	0.06292	0.3024018	1.19943082795914E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.58	-0.438	0.11656	-0.009000	0.12703	0.355000	0.17517	-0.113000	0.14837	0.656000	0.28225	0.983000	0.30585	0.047000	0.14932	0.5138:0.0:0.4862:0.0	5.079	0.13982	869	0.31655	GPCR, family 2-like;GPCR, family 2-like;GPCR, family 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1179.98	36	chr7	93462091	.	G	A	1179.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.270e-01;DP=786;ExcessHet=0.0000;FS=0.735;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.35;ReadPosRankSum=1.74;SOR=0.848	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr7	93890656	93890656	C	T	exonic	TFPI2	.	nonsynonymous SNV	TFPI2:NM_001271003:exon1:c.G23A:p.G8E	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.0	B	0.001	B	0.110	N	1.000	N	1.24	L	0.75	T	-1.096	T	0.102	T	0.16	-0.319	2.484	-3.57	-1.248	-0.841	2.278	0.022	0.0278296537511	.	.	8.804e-06	0	0	0	0	1.612e-05	0	0	6.5e-06	1	154602	rs758084609	3.423e-06	3.42e-06	1.362e-06	5.504e-06	3.598e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.472	0.08433	T	0.495	0.11371	T	0.0	0.02946	B	0.0	0.01387	B	0.109641	0.02626	N	1.678380	1	0.08975	N	0.55	0.14455	N	0.75	0.50192	T	0.06	0.06253	N	0.066	0.03841	-1.0956	0.04667	T	0.102	0.37743	T	10	0.052499205	0.05293	T	0.02783	0.50591	D	0.022	0.04323	0.508	0.60386	0.19670166235	0.19296	0.5799518443450059	0.57924	0.169558047088	0.19113	0.392080366611	0.23963	T	0.073829	0.34792	T	-0.265733	0.12236	T	-0.619483	0.11226	T	0.0356920452866182	0.02927	T	0.332967	0.07430	T	0.08581694	0.19923	0.06630901	0.13565	0.08581694	0.19923	0.06630901	0.13564	-6.029	0.46522	T	.	.	0.210	0.51332	B	.;.;.;.;.	.;.;.;.;.	0.421799	0.07922	4.631	0.82921421619249369	0.14446	0.02544	0.07066	N	AEFDBHCI	0.065810	0.12854	N	-1.68181789113553	0.00908	0.03931397	-1.7703947269724	0.00859	0.03837472	0.999999999630476	0.74766	0.72623	0.87236	0	0.609123	0.50646	0	0.594344	0.31042	0	0.603991	0.37454	0	.	.	3.57	-3.57	0.04316	-1.759000	0.01906	-0.290000	0.10200	-0.253000	0.07101	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1222:0.4103:0.1205:0.3471	2.278	0.03856	869	0.31655	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	561.98	34	chr7	93890656	.	C	T	561.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.929;DP=774;ExcessHet=0.0000;FS=1.116;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.96;ReadPosRankSum=-8.210e-01;SOR=0.495	GT:AD:DP:GQ:PL	0/1:25,22:47:99:576,0,643	20	0	1	0
chr7	93996297	93996297	C	G	exonic	BET1	.	nonsynonymous SNV	BET1:NM_001317739:exon3:c.G169C:p.V57L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.254	B	0.323	B	0.000	D	1.000	D	2.2	M	.	.	-0.539	T	0.336	T	0.848	3.986	20.4	4.74	2.629	4.848	17.024	0.134	0.0280556482367	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1226283124	1.121e-05	1.505e-05	8.372e-06	1.407e-05	1.465e-05	6.64e-06	5.37e-06	8.67e-06	7.02e-06	0	0	0	0	0	0	1.465e-05	0	0	6.595e-06	6.574e-06	1.289e-05	0	1.474e-05	0	0	.	.	0	0	0	0	0	0	0	1.474e-05	0	0	0.068	0.91255	T	0.076	0.92824	T	0.254	0.31272	B	0.323	0.41825	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.12	0.58754	M	.	.	.	-2.32	0.54382	N	0.596	0.67391	-0.5390	0.67201	T	0.336	0.70273	T	9	0.39718962	0.55310	T	0.028056	0.50789	D	0.197	0.47942	0.642	0.77903	0.345175991111	0.34120	0.4947836147715056	0.49399	0.203680317947	0.22786	0.664033174515	0.61986	T	0.21914	0.66025	T	0.345049	0.86175	D	0.257863	0.85992	D	0.758107244968414	0.43743	D	0.952005	0.88094	D	0.4227829	0.62276	0.33796772	0.59580	0.4227829	0.62277	0.33796772	0.59579	-6.28	0.48563	T	.	.	0.866	0.84405	P	.;.;.	.;.;.	4.146416	0.62163	24.4	0.99711438997443591	0.81353	0.97968	0.78509	D	AEFBI	0.677347	0.64208	D	0.25259867354802	0.53766	3.544266	0.340834713044124	0.57958	3.963703	0.999996830958607	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.74	4.74	0.59717	4.689000	0.61410	4.459000	0.43452	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.024	0.86315	635	0.64580	Target SNARE coiled-coil homology domain|Target SNARE coiled-coil homology domain|BET1, SNARE domain;.;Target SNARE coiled-coil homology domain|BET1, SNARE domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1905	359.48	99	chr7	93996297	.	C	G	359.48	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-3.848e+00;DP=2300;ExcessHet=3.5521;FS=355.066;InbreedingCoeff=-0.2345;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.45;ReadPosRankSum=0.909;SOR=13.026	GT:AD:DP:GQ:PL	0/0:75,23:110:26:0,26,1426	13	0	8	0
chr7	94618810	94618810	C	T	exonic	SGCE	.	nonsynonymous SNV	SGCE:NM_001301139:exon4:c.G487A:p.A163T	Dystonia-11, myoclonic, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.997	D	0.000	D	1.000	D	2.08	M	-4.87	D	1.103	D	0.959	D	0.716	4.714	26.2	5.66	2.834	7.818	20.112	0.810	0.184234258342	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868284377	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	1.315e-05	1.313e-05	2.57e-05	0	2.414e-05	2.18e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	1.47e-05	0	0	0.003	0.72154	D	0.016	0.74150	D	0.997	0.77913	D	0.988	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.49	0.72568	M	-4.87	0.98279	D	-3.5	0.68999	D	0.943	0.96302	1.103	0.99778	D	0.959	0.98690	D	10	0.94150186	0.93476	D	0.184234	0.85736	D	0.810	0.93854	0.834	0.94231	0.925314684063	0.92455	0.9194902772778509	0.91925	0.739026755692	0.63142	0.876112878323	0.93430	D	0.856585	0.99873	D	0.366	0.87718	D	0.288244	0.87560	D	0.960983252037279	0.65956	D	0.954805	0.84924	D	0.40985584	0.61409	0.5000297	0.71094	0.40985584	0.61409	0.5000297	0.71095	-3.323	0.14748	T	0.6096051003111664	0.67711	0.953	0.87214	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.962489	0.82058	27.7	0.99938938791288123	0.99734	0.98178	0.80279	D	AEFDBI	0.919254	0.88950	D	0.758595953127545	0.83464	8.024213	0.713632478803501	0.83413	8.015257	1.0	0.98316	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.66	5.66	0.87293	7.905000	0.86479	7.725000	0.67498	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.751000	0.35822	0.0:1.0:0.0:0.0	20.112	0.97914	615	0.66512	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	66.98	38	chr7	94618810	.	C	T	66.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.591e+00;DP=875;ExcessHet=0.0000;FS=42.254;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.73;ReadPosRankSum=0.253;SOR=5.619	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1255	20	0	1	0
chr7	94910413	94910413	G	A	exonic	PPP1R9A	.	nonsynonymous SNV	PPP1R9A:NM_001166161:exon1:c.G300A:p.M100I	.	.	419	1102	1	0	0	1	0.000453515	.	.	2248247	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.005	B	0.003	B	0.066	N	1.000	N	1.265	L	2.61	T	-1.036	T	0.024	T	0.202	-0.454	1.895	4.81	2.885	1.083	4.112	0.095	0.00295001199439	.	0.000199681	2.477e-05	9.664e-05	0	0	0	0	0	0.0001	3.23e-05	5	154602	rs374284975	4.788e-06	4.788e-06	2.722e-06	6.875e-06	0.0002	1.99e-06	1.28e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	8.993e-07	0	5.797e-05	6.567e-06	6.561e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.377	0.12837	T	0.196	0.27943	T	0.001	0.07471	B	0.001	0.04355	B	0.065794	0.21855	N	0.551584	0.999986	0.18198	N	-0.69	0.01958	N	2.6	0.13204	T	-0.26	0.11185	N	0.144	0.23125	-1.0358	0.18606	T	0.024	0.10058	T	9	0.0399867	0.02532	T	0.00295	0.06280	T	0.095	0.27398	0.141	0.04462	0.348101942276	0.34424	0.12096790652155705	0.12023	0.183250991778	0.20612	0.406516969204	0.25975	T	0.04381	0.26620	T	-0.423517	0.01625	T	-0.609461	0.12029	T	0.0443630919160399	0.04486	T	0.90111	0.66162	D	0.09402783	0.22099	0.06841732	0.14284	0.09402783	0.22098	0.06841732	0.14283	-1.81	0.02665	T	.	.	0.183	0.39748	B	.;.;.;.;.;.	.;.;.;.;.;.	3.048530	0.40899	21.3	0.84970725545106052	0.15607	0.73422	0.35915	D	AEFBI	0.167417	0.29409	N	-0.199289090099686	0.33164	1.878449	-0.0583635027542903	0.37131	2.169943	0.988222318101684	0.31448	0.653281	0.48532	0	0.563428	0.19063	0	0.675528	0.61593	0	0.616125	0.45549	0	.	.	5.75	4.81	0.61401	1.115000	0.30823	8.303000	0.76935	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.354000	0.25750	0.0758:0.2302:0.4811:0.2129	4.112	0.09533	459	0.78817	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1691.98	35	chr7	94910413	.	G	A	1691.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.110e-01;DP=846;ExcessHet=0.0000;FS=2.156;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=0.545;SOR=0.885	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	20	0	1	0
chr7	95161871	95161871	C	A	exonic	PPP1R9A	.	nonsynonymous SNV	PPP1R9A:NM_001166161:exon4:c.C1654A:p.Q552K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.67	P	0.305	B	0.000	D	0.998	D	0.495	N	1.77	T	-1.097	T	0.048	T	0.179	2.890	15.63	4.85	2.634	2.424	17.601	0.072	0.00419837512912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.891e-07	2.736e-06	1.371e-06	0	9.041e-07	0	0	.	.	0	0	0	0	0	0	9.041e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.36509	T	0.147	0.32783	T	0.197	0.29559	B	0.043	0.24256	B	0.000010	0.62929	D	0.111401	0.998412	0.44886	D	0.335	0.10427	N	1.77	0.25841	T	-2.92	0.61129	D	0.221	0.29429	-1.0972	0.04447	T	0.048	0.20513	T	10	0.19379187	0.35163	T	0.004198	0.10121	T	0.072	0.21020	0.588	0.71623	0.469742815239	0.46599	0.7163553040364857	0.71578	0.225540598374	0.25097	0.514878153801	0.40906	T	0.212449	0.57350	T	-0.202639	0.20424	T	-0.528854	0.19402	T	0.905542612075806	0.55932	D	0.864214	0.64041	D	0.29109237	0.52094	0.19600305	0.43308	0.29109237	0.52094	0.19600305	0.43307	-7.469	0.62425	T	.	.	0.127	0.31857	B	.;.;.;.;.;.	.;.;.;.;.;.	3.206200	0.43621	21.8	0.98695321299213057	0.44823	0.75294	0.36859	D	AEFI	0.314126	0.41908	N	-0.0054424589324604	0.41610	2.491833	0.156722650383056	0.47500	2.979222	0.00729035133330239	0.11429	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.85	4.85	0.62375	3.342000	0.51877	4.750000	0.44654	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	17.601	0.87924	797	0.45241	.;PDZ domain|PDZ domain|PDZ domain;.;PDZ domain|PDZ domain|PDZ domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	465.98	33	chr7	95161871	.	C	A	465.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.748;DP=736;ExcessHet=0.0000;FS=1.144;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.32;ReadPosRankSum=-1.081e+00;SOR=1.042	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1325	20	0	1	0
chr7	95274096	95274096	G	A	exonic	PPP1R9A	.	nonsynonymous SNV	PPP1R9A:NM_001166161:exon14:c.G3104A:p.R1035Q	.	.	429	1088	5	0	0	5	0.00229253	.	.	2208754	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.993	D	0.683	P	.	.	1.000	N	1.04	L	1.87	T	-1.078	T	0.073	T	0.118	4.373	23.1	3.71	1.536	2.111	12.204	0.031	0.0120852813618	0.0003	0.000199681	0.0001	0.0004	0	0.0003	0	9.609e-05	0	9.946e-05	8.41e-05	13	154602	rs370590319	7.417e-05	7.73e-05	7.51e-05	7.323e-05	0.0002	6.254e-05	5.83e-05	5.906e-05	5.333e-05	0.0002	4.686e-05	0	2.56e-05	0.0001	0.0002	7.084e-05	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0004	9.735e-05	8.25e-05	9.536e-05	6.942e-05	0.0002	0	0.0001	0	0.0004	9.422e-05	0	0.0001	0.0005	0.0002	0.0	0.91255	D	0.063	0.51421	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.8	0.25344	T	-1.75	0.42957	N	0.342	0.38335	-1.0780	0.07741	T	0.073	0.29515	T	9	0.08422974	0.14094	T	0.012085	0.30328	T	0.031	0.07369	.	.	0.44711355012	0.44333	0.30597843571679734	0.30510	0.197282521913	0.22105	0.363617181778	0.19911	T	.	.	.	-0.407343	0.02071	T	-0.530747	0.19212	T	0.336640030145645	0.26490	T	0.938306	0.79675	D	.	.	.	.	.	.	.	.	-6.434	0.51471	T	.	.	0.079	0.16010	B	.;.;.;.	.;.;.;.	3.911742	0.57055	23.8	0.99947758910056783	0.99923	0.91652	0.53976	D	AEFBI	0.322403	0.42490	N	0.0114955654821751	0.42378	2.552197	0.10462014464701	0.44784	2.753552	0.998020112087586	0.36327	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.59	3.71	0.41733	2.416000	0.44298	3.359000	0.37844	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0807:0.0:0.9193:0.0	12.204	0.53653	864	0.32732	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	910.98	33	chr7	95274096	.	G	A	910.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.950e-01;DP=759;ExcessHet=0.0000;FS=0.845;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=0.152;SOR=0.589	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1212	20	0	1	0
chr7	95409919	95409919	T	C	exonic	PON2	.	nonsynonymous SNV	PON2:NM_000305:exon6:c.A677G:p.N226S	.	.	437	1077	7	1	0	9	0.00416089	.	.	921467	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.45	T	0.085	B	0.051	B	0.002	N	0.730	N	1.545	L	1.07	T	-1.031	T	0.069	T	0.044	0.219	5.179	-1.86	-0.180	0.650	6.006	0.044	0.00923354947888	.	0.00179712	0.0013	9.615e-05	0.0007	0	0	0.0001	0.0011	0.0084	0.0011255	174	154602	rs200897774	0.0007	0.0007	0.0004	0.0010	0.0097	0.0006	0.0006	0.0091	0.0089	0.0002	0.0005	3.828e-05	7.562e-05	0	0.0024	3.958e-05	0.0009	0.0097	0.0003	0.0003	0.0003	0.0004	0.0075	0.0003	0.0002	0.0055	0.0049	0.0001	0	0.0003	0	0	0	0	5.88e-05	0	0.0075	0.197	0.21144	T	0.184	0.35840	T	0.085	0.24868	B	0.051	0.25434	B	0.001927	0.37643	N	0.314375	0.730056	0.29838	N	0.965	0.23975	L	1.07	0.39586	T	-1.75	0.41428	N	0.194	0.21969	-1.0308	0.20195	T	0.069	0.28346	T	10	0.008585423	0.00194	T	0.009234	0.24249	T	0.044	0.11924	.	.	0.136095386433	0.13204	0.4477565924489617	0.44693	0.0750845404494	0.08422	0.294665873051	0.09609	T	0.275185	0.64771	T	-0.617057	0.00115	T	-0.653868	0.08685	T	0.00671209480234248	0.00075	T	0.79972	0.46414	T	0.061354306	0.12694	0.07400366	0.16143	0.061354306	0.12693	0.07400366	0.16143	-6.134	0.47387	T	.	.	0.054	0.00321	B	.;.;.;.	.;.;.;.	0.905215	0.12791	9.310	0.91435941211512672	0.20704	0.77254	0.37963	D	AEFBI	0.241856	0.36341	N	-0.644767521248969	0.17612	0.9077851	-0.620694263231787	0.18962	1.015291	0.999714150713502	0.42101	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.62	-1.86	0.07340	0.470000	0.21795	-2.928000	0.03221	-0.123000	0.13640	0.999000	0.42656	0.000000	0.08366	0.879000	0.42020	0.0:0.3391:0.2472:0.4137	6.006	0.18775	845	0.36510	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1930.11	33	chr7	95409919	.	T	C	1930.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.842;DP=839;ExcessHet=0.1072;FS=1.150;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.80;ReadPosRankSum=0.513;SOR=0.809	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1168	19	0	2	0
chr7	95485972	95485972	A	T	exonic	ASB4	.	startloss	ASB4:NM_016116:exon1:c.A1T:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.007	B	0.004	B	0.002	N	1.000	D	.	.	1.18	T	-1.021	T	0.095	T	0.849	2.718	15.05	5.2	2.324	4.780	11.537	0.221	0.0598344819146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.007	0.14184	B	0.002	0.06944	B	0.002314	0.36806	N	0.308175	1	0.81001	D	.	.	.	0.94	0.43672	T	-0.7	0.19933	N	0.851	0.84713	-1.0213	0.23292	T	0.095	0.35871	T	9	0.7528086	0.75762	D	0.059834	0.67798	D	0.221	0.51721	0.541	0.65304	0.650744641505	0.64784	0.39437781819056156	0.39352	.	.	.	.	.	0.03936	0.25161	T	0.151169	0.69376	D	-0.0206324	0.68986	D	0.99273282289505	0.83293	D	0.9	0.65058	D	0.8839897	0.89998	0.72266406	0.83622	0.8839897	0.90000	0.72266406	0.83623	-7.567	0.58080	D	.	.	.	.	.	.;.	.;.	2.708077	0.35391	19.89	0.9554254010908737	0.27192	0.94659	0.61892	D	AEFGBI	0.028094	0.02413	N	0.0368478623234747	0.43539	2.644811	0.192625001043398	0.49440	3.147345	0.999999867109585	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.677812	0.66336	0	.	.	5.2	5.2	0.71720	5.065000	0.64175	10.951000	0.84400	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.921000	0.45669	0.8506:0.1494:0.0:0.0	11.537	0.49896	860	0.33753	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	803.98	33	chr7	95485972	.	A	T	803.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.827e+00;DP=760;ExcessHet=0.0000;FS=1.373;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.46;ReadPosRankSum=1.23;SOR=0.412	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1121	20	0	1	0
chr7	95495935	95495935	G	A	exonic	ASB4	.	nonsynonymous SNV	ASB4:NM_016116:exon2:c.G365A:p.C122Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	1.27	L	-0.16	T	-0.308	T	0.368	T	0.984	3.464	17.74	5.35	2.680	9.126	19.450	0.629	0.0664623861993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.77	0.45869	L	-0.16	0.65378	T	-10.46	0.99072	D	0.851	0.86511	-0.3077	0.74770	T	0.368	0.72795	T	10	0.8424064	0.83398	D	0.066462	0.69882	D	0.629	0.85718	0.6	0.73105	0.910858083179	0.90996	0.8912095576046916	0.89090	0.46589342076	0.46012	0.794030368328	0.81056	T	0.245159	0.61440	T	0.358541	0.87140	D	0.277243	0.86973	D	0.999905347824097	0.99629	D	0.853415	0.53896	D	0.9678284	0.98055	0.9687514	0.99410	0.9678284	0.98055	0.9687514	0.99410	-6.814	0.52663	T	.	.	0.903	0.83475	P	.;.	.;.	5.136206	0.85976	28.8	0.99666791081010342	0.78330	0.98828	0.87388	D	AEFGBI	0.962822	0.98454	D	0.69295400389064	0.79168	7.021606	0.671049683424988	0.80184	7.243384	0.999999999999727	0.74766	0.446893	0.09132	0	0.573078	0.20572	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.35	5.35	0.76297	9.252000	0.94679	11.887000	0.98989	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.854000	0.40426	0.0:0.0:1.0:0.0	19.450	0.94856	861	0.33516	.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1785.98	44	chr7	95495935	.	G	A	1785.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.993e+00;DP=901;ExcessHet=0.0000;FS=1.417;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.17;ReadPosRankSum=-3.980e-01;SOR=0.830	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	20	0	1	0
chr7	96110045	96110045	C	-	exonic	DYNC1I1	.	frameshift deletion	DYNC1I1:NM_001278422:exon16:c.1783delC:p.V597Cfs*21,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978076440	2.474e-05	1.431e-05	2.484e-05	2.466e-05	0.0006	1.128e-05	7.61e-06	0.0002	0.0001	0.0006	4.163e-05	0	0	0	0	0	7.56e-05	1.759e-05	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0007	0.0006	0.0010	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	1243.3	33	chr7	96110044	.	TC	T	1243.3	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.849e+00;DP=721;ExcessHet=0.0000;FS=0.944;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=18.56;ReadPosRankSum=-8.950e-01;SOR=0.556	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1165	19	0	1	1
chr7	97009871	97009871	G	C	exonic	DLX6	.	nonsynonymous SNV	DLX6:NM_005222:exon3:c.G706C:p.D236H,	.	.	417	1102	3	0	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.98	D	0.933	D	0.000	D	1.000	D	1.79	L	-2.81	D	0.544	D	0.806	D	0.416	4.800	27.1	5.76	2.732	7.576	19.974	0.481	0.0873183123038	.	.	3.32e-05	0.0001	0	0	0	1.503e-05	0.0022	0	2.59e-05	4	154602	rs778865296	8.21e-06	8.209e-06	2.723e-06	1.375e-05	0.0002	4.38e-06	3.46e-06	3.85e-06	1.44e-06	0	0	0	0	1.873e-05	0.0002	4.497e-06	4.969e-05	2.319e-05	6.567e-06	1.312e-05	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.431	0.17821	T	0.029	0.54541	D	.	.	.	.	.	.	0.000002	0.62929	D	0.131604	1	0.81001	D	.	.	.	-2.85	0.91363	D	-3.09	0.64246	D	0.325	0.56833	0.544	0.91153	D	0.806	0.93450	D	10	0.33623612	0.50767	T	0.087318	0.74912	D	0.481	0.77142	0.212	0.13066	0.683361847445	0.68066	0.5741661920938673	0.57345	1.72559754066	0.90647	0.75704407692	0.75490	T	0.024963	0.18762	T	0.0932867	0.63557	D	-0.0401307	0.67692	D	0.988691926002502	0.78995	D	0.921608	0.72088	D	.	.	.	.	.	.	.	.	-13.112	0.89818	D	.	.	0.620	0.69690	P	.;.	.;.	4.980708	0.82498	27.8	0.99556063098952685	0.71459	0.96373	0.68821	D	AEFDBHCI	0.939735	0.94073	D	0.725129506815512	0.81280	7.48528	0.739172407432315	0.85347	8.553119	0.999999999998267	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.0	0.00061	3	0.530356	0.10902	0	.	.	5.76	5.76	0.90726	7.943000	0.87192	11.813000	0.96995	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.526000	0.29613	0.0:0.0:1.0:0.0	19.974	0.97297	928	0.17405	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1278.98	33	chr7	97009871	.	G	C	1278.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.39;DP=805;ExcessHet=0.0000;FS=1.546;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=0.181;SOR=0.608	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1108	20	0	1	0
chr7	97988530	97988530	G	C	exonic	OCM2	.	nonsynonymous SNV	OCM2:NM_006188:exon2:c.C80G:p.P27R,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.667	P	0.107	B	0.003	N	0.990	D	1.525	L	-0.59	T	-0.629	T	0.203	T	0.441	1.659	11.50	3.0	2.074	1.049	10.614	0.262	0.00885405381223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.154	0.32040	T	0.667	0.41107	P	0.107	0.31211	B	0.002623	0.36208	N	0.273612	0.989567	0.40978	D	1.445	0.36358	L	-0.59	0.71543	T	-0.78	0.21644	N	0.614	0.63035	-0.6292	0.63605	T	0.203	0.56003	T	10	0.4763866	0.60168	T	0.008854	0.23342	T	0.262	0.57482	0.527	0.63263	0.659846786681	0.65699	0.8519214022063897	0.85154	0.0962206181289	0.10857	0.881232857704	0.94125	D	0.064857	0.32541	T	-0.0227742	0.48458	T	-0.27049	0.47770	T	0.406093646902483	0.29171	T	0.937106	0.76374	D	0.12222858	0.28726	0.1486261	0.35125	0.12222858	0.28726	0.1486261	0.35124	-2.482	0.05660	T	.	.	0.672	0.71799	P	.	.	3.630487	0.51428	23.1	0.97567790509212904	0.34659	0.51021	0.28798	D	AEFBI	0.128795	0.24671	N	0.047178150289728	0.44011	2.683165	0.0977396329034856	0.44434	2.725326	4.67842787405193E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.98	3.0	0.33773	2.205000	0.42407	9.526000	0.80940	0.566000	0.28629	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.714:0.286	10.614	0.44629	662	0.61715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2235.98	34	chr7	97988530	.	G	C	2235.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=920;ExcessHet=0.0000;FS=5.965;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=-4.480e-01;SOR=1.112	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1276	20	0	1	0
chr7	97990042	97990042	A	C	splicing	OCM2	NM_006188:exon1:c.61+2T>G	.	.	.	.	434	1084	4	0	0	4	0.00184162	1.0000	0.94	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.419	14.05	3.49	1.479	5.741	10.139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1390112627	6.19e-06	0.0002	4.647e-06	7.73e-06	1.213e-05	2.66e-06	1.92e-06	2.19e-06	1.44e-06	0	0	0	0	2.223e-05	0	6.09e-06	0	1.213e-05	5.624e-05	0.0005	7.667e-05	3.375e-05	0.0002	2.634e-05	1.799e-05	3.139e-05	1.297e-05	3.124e-05	0	0.0002	0	0	0.0004	0	1.658e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186975	0.72684	D	0.0308008	0.72330	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.670646	0.74647	26.2	0.98603581146955932	0.43546	0.95746	0.65978	D	AEFGBI	.	.	.	0.845182211011962	0.88832	9.729144	0.616035010124485	0.76103	6.429953	0.00823670763233826	0.11637	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.057018	0.00518	0	0.784209	0.46363	3.49	3.49	0.39065	6.048000	0.70674	11.017000	0.84915	0.611000	0.49015	1.000000	0.71638	1.000000	0.68203	0.811000	0.38219	1.0:0.0:0.0:0.0	10.139	0.41900	663	0.61610	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	315.33	105	chr7	97990042	.	A	C	315.33	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-3.512e+00;DP=1848;ExcessHet=0.1072;FS=219.780;InbreedingCoeff=-0.0755;MLEAC=2;MLEAF=0.050;MQ=59.92;MQRankSum=0.00;QD=1.08;ReadPosRankSum=2.36;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:142,0:142:43:.:.:0,43,3056	18	0	2	1
chr7	98230986	98230986	C	G	exonic	TECPR1	.	nonsynonymous SNV	TECPR1:NM_015395:exon15:c.G2257C:p.E753Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.678	P	0.14	B	0.031	N	1.000	N	0.69	N	1.52	T	-1.064	T	0.032	T	0.089	-0.645	1.157	3.76	2.319	1.055	4.828	0.061	0.00908948899349	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	2.052e-06	1.363e-06	2.754e-06	0.0002	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	0	0	2.321e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.541	0.06779	T	0.547	0.09522	T	0.678	0.41346	P	0.107	0.31211	B	0.031079	0.25219	N	0.423704	1	0.08975	N	0	0.06538	N	1.52	0.30669	T	-0.88	0.23808	N	0.372	0.41360	-1.0638	0.10831	T	0.032	0.13898	T	10	0.15200865	0.28721	T	0.009089	0.23917	T	0.061	0.17616	0.42	0.46200	0.262175524916	0.25828	0.5445787527315191	0.54383	0.349594126067	0.36810	0.332080900669	0.15249	T	0.014229	0.12151	T	-0.300737	0.08590	T	-0.669765	0.07624	T	0.170119704002938	0.18588	T	0.869413	0.57379	D	0.051241685	0.09380	0.027381212	0.00887	0.051241685	0.09380	0.027381212	0.00887	-5.096	0.37865	T	.	.	0.078	0.06803	B	.	.	1.875450	0.23824	16.16	0.57047721620192737	0.05684	0.19872	0.20828	N	AEFDBI	0.085817	0.17399	N	-0.542905165959008	0.20706	1.093553	-0.521324217847271	0.21574	1.16775	0.995724553861951	0.34289	0.706548	0.73137	0	0.694456	0.67091	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.66	3.76	0.42368	0.919000	0.28312	2.134000	0.30799	0.582000	0.30178	0.495000	0.26917	0.972000	0.29809	0.018000	0.11154	0.0:0.6083:0.2051:0.1866	4.828	0.12788	795	0.45444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	434.98	40	chr7	98230986	.	C	G	434.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.000e-01;DP=748;ExcessHet=0.0000;FS=3.043;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.70;ReadPosRankSum=2.56;SOR=0.255	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1106	20	0	1	0
chr7	98617646	98617646	C	T	exonic	NPTX2	.	nonsynonymous SNV	NPTX2:NM_002523:exon1:c.C185T:p.A62V,	.	.	424	1045	49	4	0	57	0.0265487	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.226	B	0.028	B	.	.	0.996	D	1.1	L	2.92	T	-1.050	T	0.007	T	0.168	4.267	22.3	4.53	2.054	5.483	16.228	0.049	.	.	0.00798722	0.0260	0	0.0147	0.0081	.	0.0143	0	0.0316	0.0027749	429	154602	rs115375965	0.0085	0.0080	0.0080	0.0090	0.0232	0.0083	0.0083	0.0223	0.0219	0.0071	0.0047	0.0131	0.0006	0.0072	0.0105	0.0077	0.0086	0.0232	0.0077	0.0077	0.0082	0.0073	0.0190	0.0073	0.0072	0.0159	0.0147	0.0082	0	0.0042	0.0144	0.0004	0.0061	0.0068	0.0081	0.0057	0.0190	0.003	0.68238	D	0.006	0.70582	D	0.226	0.30455	B	0.028	0.21332	B	.	.	.	.	0.995788	0.42855	D	1.39	0.34934	L	2.92	0.09915	T	-0.85	0.23156	N	0.061	0.03283	-1.0495	0.14537	T	0.007	0.02282	T	9	0.0047870874	0.00101	T	.	.	.	0.049	0.13647	.	.	.	.	0.6093709741241436	0.60869	0.410542690143	0.41835	0.919665932655	0.98298	D	0.264746	0.63655	T	-0.536404	0.00352	T	-0.524359	0.19854	T	0.0290008586872364	0.01838	T	0.950605	0.81072	D	0.30948555	0.53742	0.30403122	0.56432	0.30948555	0.53742	0.30403122	0.56431	-5.498	0.41849	T	.	.	0.156	0.34449	B	.	.	4.400750	0.67996	25.2	0.99822509836095696	0.90502	0.82763	0.41947	D	AEFDBHCIJ	0.743947	0.68709	D	-0.0570587939901521	0.39287	2.314396	0.0573941244764255	0.42430	2.566248	0.999999999999999	0.74766	0.789315	0.99827	0	0.547309	0.14657	0	0.768056	0.98339	0	0.63947	0.58350	0	.	.	4.53	4.53	0.55009	5.599000	0.67280	7.331000	0.58204	0.533000	0.24879	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	16.228	0.82137	226	0.91233	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	497.98	37	chr7	98617646	.	C	T	497.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.530e-01;DP=721;ExcessHet=0.0000;FS=1.149;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.83;ReadPosRankSum=-1.540e-01;SOR=0.604	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,984	20	0	1	0
chr7	98851507	98851507	T	G	exonic	TMEM130	.	nonsynonymous SNV	TMEM130:NM_001134451:exon5:c.A614C:p.D205A	.	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.206	B	0.085	B	0.037	N	1.000	N	1.7	L	-0.25	T	-0.988	T	0.093	T	0.365	2.320	13.72	1.17	0.285	1.002	0.921	0.087	.	0.0011	0.0061901	0.0078	0.0013	0.0484	0.0006	0.0165	0.0030	0.0089	0.0033	0.0072703	1124	154602	rs145989307	0.0029	0.0029	0.0031	0.0027	0.0475	0.0028	0.0028	0.0458	0.0452	0.0005	0.0475	0.0008	0.0010	0.0178	0.0010	0.0005	0.0031	0.0035	0.0045	0.0044	0.0041	0.0048	0.0229	0.0042	0.0041	0.0209	0.0202	0.0013	0.0022	0.0229	0.0014	0.0008	0.0162	0	0.0010	0.0062	0.0025	0.031	0.45039	D	0.129	0.40747	T	0.103	0.29860	B	0.085	0.29395	B	0.037121	0.24440	N	0.394655	1	0.08975	N	2.075	0.57047	M	-0.25	0.67011	T	-1.03	0.27052	N	0.463	0.51226	-0.9879	0.33126	T	0.093	0.35390	T	10	0.0062393546	0.00141	T	.	.	.	0.087	0.25287	.	.	0.633545781819	0.63054	0.441437285070301	0.44060	0.216282985703	0.24154	0.393719613552	0.24193	T	0.060934	0.31519	T	-0.403399	0.02199	T	-0.316461	0.42960	T	0.00268141777118579	0.00028	T	0.562144	0.19728	T	0.034766253	0.03964	0.042509936	0.05079	0.034766253	0.03964	0.042509936	0.05079	-10.153	0.76438	D	.	.	0.120	0.32469	B	.;.;.;.	.;.;.;.	2.600596	0.33751	19.43	0.979059833147637	0.36780	0.03457	0.08605	N	AEFDBI	0.072850	0.14552	N	-0.635733177265275	0.17878	0.923736	-0.657466063600771	0.18029	0.9612872	0.00670121264416257	0.11287	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.16	1.17	0.19998	1.239000	0.32322	1.009000	0.23318	-0.179000	0.10443	0.002000	0.15269	0.013000	0.20296	0.960000	0.51673	0.1547:0.1795:0.16:0.5058	0.921	0.01233	510	0.75209	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1218.98	40	chr7	98851507	.	T	G	1218.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.750e-01;DP=813;ExcessHet=0.0000;FS=0.723;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-1.398e+00;SOR=0.609	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1249	20	0	1	0
chr7	98851547	98851547	C	T	exonic	TMEM130	.	nonsynonymous SNV	TMEM130:NM_001134451:exon5:c.G574A:p.V192M	.	.	424	1095	3	0	0	3	0.00136799	.	.	2347149	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	0.996	D	0.875	P	0.002	N	1.000	N	1.61	L	2.39	T	-1.110	T	0.059	T	0.468	1.911	12.35	2.29	1.152	0.915	4.432	0.095	0.0156105316969	0.0003	0.000199681	0.0003	0	0	0	0	0.0003	0.0011	0.0007	0.0002264	35	154602	rs141333258	0.0003	0.0003	0.0002	0.0003	0.0014	0.0002	0.0002	0.0007	0.0006	0.0001	0.0002	0	0	1.872e-05	0.0014	0.0002	0.0005	0.0008	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0003	0.0002	2.408e-05	0.0186	0.0003	0	0	0	0	0.0003	0	0.0008	0.006	0.61437	D	0.007	0.69154	D	0.996	0.68779	D	0.875	0.62107	P	0.001924	0.37643	N	0.170395	0.999996	0.08975	N	2.075	0.57047	M	2.39	0.15724	T	-1.3	0.36385	N	0.439	0.47765	-1.1102	0.03053	T	0.059	0.24834	T	10	0.013188064	0.00281	T	0.015611	0.36438	T	0.095	0.27398	.	.	0.194818534648	0.19098	0.2271477463715872	0.22629	0.694422212937	0.60765	0.503383338451	0.39298	T	0.082652	0.36877	T	-0.408664	0.02029	T	-0.457201	0.26905	T	0.0655597329055533	0.08014	T	0.891911	0.63503	D	0.030327994	0.02677	0.04809929	0.07073	0.030327994	0.02677	0.04809929	0.07073	-5.252	0.39466	T	.	.	0.134	0.34906	B	.;.;.;.	.;.;.;.	3.082382	0.41477	21.4	0.99716269062129848	0.81703	0.12713	0.17435	N	AEFDBI	0.069220	0.13690	N	-0.0383160405159819	0.40125	2.377687	-0.18210738631902	0.32193	1.829202	0.0127276204695258	0.12366	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.16	2.29	0.27658	0.497000	0.22222	1.204000	0.24858	0.581000	0.30040	0.280000	0.25141	0.657000	0.25995	0.021000	0.11733	0.0:0.5809:0.1872:0.232	4.432	0.10958	510	0.75209	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	610.98	40	chr7	98851547	.	C	T	610.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=794;ExcessHet=0.0000;FS=0.852;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.45;ReadPosRankSum=0.191;SOR=0.573	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1249	20	0	1	0
chr7	99359563	99359563	A	G	exonic	ARPC1A	.	nonsynonymous SNV	ARPC1A:NM_001190996:exon8:c.A766G:p.M256V	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.89	T	0.001	B	0.003	B	0.000	D	1.000	D	0.85	L	-0.1	T	-1.005	T	0.130	T	0.474	0.595	7.209	4.34	1.020	5.007	11.555	0.177	0.0159475740645	7.7e-05	.	6.607e-05	0.0002	0	0	0	9.012e-05	0	0	7.12e-05	11	154602	rs142247800	4.104e-05	4.104e-05	4.084e-05	4.125e-05	0.0002	3.244e-05	2.919e-05	2.999e-05	2.671e-05	8.962e-05	6.708e-05	3.826e-05	2.519e-05	1.872e-05	0.0002	3.957e-05	0	6.956e-05	5.914e-05	5.907e-05	3.857e-05	8.065e-05	0.0002	3.077e-05	2.21e-05	7.98e-06	2.99e-06	4.815e-05	0	6.545e-05	0.0003	0.0002	0	0	2.942e-05	0.0009	0	0.875	0.02575	T	0.396	0.15206	T	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	0.78	0.19475	N	-0.1	0.64264	T	-1.06	0.27669	N	0.568	0.59138	-1.0053	0.28368	T	0.130	0.44048	T	10	0.092172444	0.16209	T	0.015948	0.36960	T	0.177	0.44549	.	.	0.610248722441	0.60711	0.6280561746936144	0.62738	0.839975404743	0.68004	0.704100847244	0.67737	T	0.049083	0.28203	T	-0.207213	0.19773	T	-0.255989	0.49223	T	0.0976886376738548	0.12101	T	0.779622	0.41374	T	0.1542183	0.34918	0.13209197	0.31706	0.1542183	0.34918	0.13209197	0.31705	-8.269	0.62888	D	.	.	0.260	0.49431	B	.;.	.;.	2.524543	0.32625	19.10	0.59681499716653552	0.06282	0.96650	0.70212	D	AEFBI	0.658981	0.63006	D	-0.477479464924672	0.22821	1.221209	-0.261509346962093	0.29378	1.645396	0.032636154909239	0.14064	0.722319	0.85440	0	0.723133	0.82719	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.49	4.34	0.51267	4.997000	0.63662	6.239000	0.55277	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9299:0.0:0.0701:0.0	11.555	0.49995	444	0.79803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2150.15	38	chr7	99359563	.	A	G	2150.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.088;DP=901;ExcessHet=0.0000;FS=0.630;InbreedingCoeff=-0.0308;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.33;ReadPosRankSum=0.835;SOR=0.596	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr7	99396696	99396696	A	G	exonic	PDAP1	.	nonsynonymous SNV	PDAP1:NM_014891:exon6:c.T532C:p.S178P,	.	.	427	1092	3	0	0	3	0.00137174	.	.	722775	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.909	P	0.91	D	0.000	D	1.000	D	1.79	L	.	.	-0.358	T	0.290	T	0.719	4.180	21.6	4.58	2.049	5.877	14.411	0.127	.	0.0010	0.00119808	0.0029	9.612e-05	0.0003	0	0.0138	0.0037	0.0055	0.0005	0.0025744	398	154602	rs146420545	0.0019	0.0019	0.0019	0.0019	0.0016	0.0018	0.0018	0.0015	0.0015	0.0003	0.0002	0.0010	0	0.0140	0	0.0016	0.0017	0.0007	0.0028	0.0028	0.0024	0.0033	0.0030	0.0026	0.0025	0.0027	0.0025	0.0002	0.0471	0.0006	0.0014	0	0.0148	0	0.0030	0.0014	0.0006	0.0	0.91255	D	0.048	0.48594	D	0.909	0.50183	P	0.91	0.64641	D	0.000000	0.84330	D	0.055442	0.999989	0.54805	D	2.2	0.62015	M	.	.	.	-1.17	0.29933	N	0.622	0.63713	-0.3579	0.73325	T	0.290	0.66192	T	9	0.008838624	0.00200	T	.	.	.	0.127	0.34888	.	.	0.545045102275	0.54158	0.5666243198176231	0.56590	1.52269724241	0.87452	0.654085576534	0.60566	T	0.04855	0.28050	T	-0.113221	0.34238	T	0.0656807	0.74621	D	0.0400001861829261	0.03691	T	0.816718	0.47282	T	0.6616543	0.75987	0.65343696	0.79715	0.6616543	0.75989	0.65343696	0.79716	-12.439	0.86924	D	.	.	0.317	0.54309	B	.	.	4.225360	0.63937	24.6	0.99843766680718082	0.92403	0.98276	0.81177	D	AEFBHCI	0.842530	0.75963	D	0.571969803409272	0.71428	5.649613	0.543826426989419	0.70969	5.584047	0.999999285881047	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.58	4.58	0.56077	5.922000	0.69759	11.196000	0.88846	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	1.0:0.0:0.0:0.0	14.411	0.66688	496	0.76301	.	.	.	.	.	chr7:98994319	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1207.98	39	chr7	99396696	.	A	G	1207.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.400;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=0.726;SOR=0.617	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1223	20	0	1	0
chr7	99425250	99425250	C	T	exonic	ATP5MF-PTCD1;PTCD1	.	nonsynonymous SNV	PTCD1:NM_015545:exon6:c.G1282A:p.A428T	.	.	419	1069	34	0	0	34	0.0156538	.	.	2825912	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.53	T	0.06	B	0.021	B	0.323	N	1.000	N	0.345	N	-0.09	T	-1.026	T	0.105	T	0.154	1.099	9.484	2.75	0.275	0.090	6.653	0.019	.	0.0012	0.00219649	0.0022	0.0005	0.0008	0	0.0002	0.0017	0.0044	0.0083	0.0020504	317	154602	rs147045279	0.0017	0.0017	0.0014	0.0019	0.0141	0.0016	0.0016	0.0116	0.0107	0.0005	0.0011	0.0015	0	5.628e-05	0.0141	0.0012	0.0022	0.0087	0.0014	0.0014	0.0013	0.0015	0.0075	0.0013	0.0012	0.0055	0.0049	0.0004	0	0.0018	0.0017	0	9.416e-05	0.0170	0.0017	0.0033	0.0075	0.628	0.05262	T	0.581	0.08476	T	0.036	0.23119	B	0.005	0.19346	B	0.323285	0.14234	N	0.719311	1	0.08975	N	0.345	0.11182	N	-0.12	0.64630	T	0.44	0.03243	N	0.189	0.21056	-1.0264	0.21625	T	0.105	0.38464	T	10	0.0060635805	0.00136	T	.	.	.	0.019	0.03383	.	.	0.253205268125	0.24938	0.2198370897639818	0.24760	0.0920449276398	0.10393	0.221883535385	0.01422	T	0.010152	0.09188	T	-0.504016	0.00543	T	-0.490363	0.23352	T	0.000743209232149787	0.00007	T	0.238576	0.03390	T	0.021128131	0.00700	0.034246337	0.02459	0.021128131	0.00700	0.034246337	0.02459	-4.056	0.24639	T	.	.	0.066	0.02927	B	.;.	.;.	0.545576	0.09141	5.925	0.65804664471432339	0.07877	0.01854	0.05730	N	AEFBI	0.028975	0.02651	N	-1.14432020220704	0.05874	0.2689332	-1.10255730857523	0.07651	0.3730167	1.45210377330431E-4	0.05573	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	5.66	2.75	0.31439	0.236000	0.17745	1.932000	0.29777	-0.107000	0.15377	0.002000	0.15269	0.962000	0.29361	0.034000	0.13613	0.3204:0.1307:0.5489:0.0	6.653	0.22162	400	0.82730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.09524	4612.92	34	chr7	99425250	.	C	T	4612.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.33;DP=1015;ExcessHet=0.6776;FS=1.657;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=0.468;SOR=0.631	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1234	17	0	4	0
chr7	99563862	99563862	G	A	splicing	ZNF655	NM_001085366:exon3:c.137-1G>A;NM_024061:exon5:c.350-1G>A;NM_001085367:exon5:c.350-1G>A;NM_001009958:exon3:c.137-1G>A	.	.	.	.	448	1046	26	2	0	30	0.0141376	0.9884	0.86	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.512	17.94	4.14	2.624	4.327	12.234	.	.	0.0039	0.00279553	0.0036	0.0013	0.0015	0.0002	0.0014	0.0038	0.0033	0.0083	0.0034411	532	154602	rs62619783	0.0051	0.0051	0.0049	0.0052	0.0087	0.0050	0.0049	0.0082	0.0080	0.0009	0.0022	0.0033	2.527e-05	0.0016	0.0056	0.0054	0.0052	0.0087	0.0031	0.0031	0.0031	0.0031	0.0075	0.0029	0.0028	0.0056	0.0049	0.0010	0	0.0028	0.0046	0	0.0008	0	0.0048	0.0024	0.0075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.420496	0.01697	T	-0.371803	0.36677	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.931358	0.81311	27.5	0.99363849922481218	0.61113	0.85770	0.44940	D	AEFDGBCIJ	.	.	.	0.295992870996268	0.55944	3.758654	0.343683091521134	0.58128	3.981628	0.999999999999945	0.74766	0.359288	0.05646	0	0.340432	0.05866	0	0.144798	0.03916	0	0.117559	0.03655	0	0.972662	0.75027	4.14	4.14	0.47821	3.805000	0.55280	10.632000	0.83505	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	12.234	0.53819	281	0.88893	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	686.98	33	chr7	99563862	.	G	A	686.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.221;DP=759;ExcessHet=0.0000;FS=2.968;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=0.509;SOR=0.310	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1418	20	0	1	0
chr7	99573342	99573342	G	A	exonic	ZNF655	.	nonsynonymous SNV	ZNF655:NM_001009960:exon3:c.G1234A:p.E412K	.	.	410	1100	10	2	0	14	0.0063234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.959	D	0.542	P	0.001	D	1.000	N	0.755	N	1.6	T	-1.073	T	0.067	T	0.471	0.566	7.061	4.19	1.451	1.208	11.794	0.149	0.00733513720442	0.0004	0.00179712	0.0015	9.625e-05	0.0004	0	0	0.0005	0.0055	0.0086	0.0013389	207	154602	rs144470445	0.0008	0.0008	0.0004	0.0011	0.0096	0.0007	0.0007	0.0091	0.0089	2.987e-05	0.0002	0.0012	0.0001	1.872e-05	0.0073	0.0001	0.0011	0.0096	0.0004	0.0004	0.0003	0.0005	0.0073	0.0003	0.0003	0.0054	0.0047	2.405e-05	0	0.0005	0.0023	0	0	0	0.0002	0.0014	0.0073	0.057	0.37966	T	0.014	0.62352	D	0.959	0.55135	D	0.542	0.48916	P	0.000559	0.43413	D	0.000000	1	0.19694	N	0.91	0.23283	L	1.6	0.28604	T	-3.32	0.66085	D	0.327	0.45237	-1.0732	0.08724	T	0.067	0.27434	T	10	0.010798901	0.00239	T	0.007335	0.19442	T	0.149	0.39377	.	.	0.0297737177859	0.01360	0.05954497527589785	0.05894	0.168576450478	0.19010	0.386692523956	0.23202	T	0.096404	0.39817	T	-0.453345	0.01079	T	-0.417719	0.31338	T	0.0434370793465221	0.04317	T	0.60064	0.22426	T	0.24259053	0.47188	0.29244402	0.55271	0.24259053	0.47188	0.29244402	0.55270	-5.024	0.37099	T	.	.	0.136	0.38640	B	.;.;.;.	.;.;.;.	3.915543	0.57135	23.8	0.98549257291906944	0.42820	0.32838	0.24683	N	AEFDGBHCI	0.121743	0.23656	N	-0.242725747999144	0.31394	1.759924	-0.329775862014499	0.27142	1.50403	0.238092526423009	0.18540	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.07	4.19	0.48645	1.027000	0.29721	8.391000	0.77086	0.676000	0.76740	0.001000	0.13787	1.000000	0.68203	0.159000	0.20615	0.0873:0.0:0.9127:0.0	11.794	0.51359	273	0.89298	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1292.98	36	chr7	99573342	.	G	A	1292.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.120e-01;DP=824;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=-1.640e+00;SOR=0.631	GT:AD:DP:GQ:PL	0/1:69,50:119:99:1307,0,1884	20	0	1	0
chr7	99621529	99621529	C	T	exonic	ZSCAN25	.	nonsynonymous SNV	ZSCAN25:NM_001350979:exon3:c.C544T:p.L182F	.	.	425	1092	5	0	0	5	0.00228415	.	.	3355132	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.71	T	0.999	D	0.998	D	0.001	D	0.943	N	1.2	L	2.99	T	-1.055	T	0.051	T	0.381	1.021	9.171	5.08	2.736	4.266	14.710	0.197	0.0106630995889	.	.	3.862e-05	0	0	0	0	0	0.0013	0.0002	2.59e-05	4	154602	rs761250562	2.923e-05	3.078e-05	2.688e-05	3.162e-05	0.0008	2.175e-05	1.957e-05	0.0003	0.0002	6.261e-05	0	8.169e-05	0	0	0.0008	1.302e-05	0.0001	0.0002	1.971e-05	1.97e-05	1.284e-05	2.689e-05	0.0002	5.24e-06	2.45e-06	.	.	2.412e-05	0	6.543e-05	0	0	0	0	0	0	0.0002	0.091	0.31834	T	0.286	0.21277	T	0.999	0.77913	D	0.991	0.79672	D	0.000702	0.42254	D	0.000000	0.943	0.37374	D	1.645	0.42016	L	2.93	0.09822	T	-1.57	0.37955	N	0.311	0.49237	-1.0547	0.13119	T	0.051	0.21572	T	10	0.15086162	0.28526	T	0.010663	0.27451	T	0.197	0.47942	0.119	0.02647	0.395289904662	0.39143	0.12089058216304557	0.12016	0.967870680128	0.73253	0.528489470482	0.42821	T	0.042102	0.26075	T	-0.340044	0.05384	T	-0.456927	0.26933	T	0.124131653464355	0.14829	T	0.764923	0.41150	T	0.09168373	0.21491	0.0788525	0.17700	0.09168373	0.21490	0.0788525	0.17700	-5.973	0.46053	T	.	.	0.088	0.24123	B	.;.;.	.;.;.	2.884327	0.38179	20.7	0.96377310021897422	0.29607	0.94489	0.61330	D	AEFBI	0.432845	0.49455	N	0.34040104805006	0.58234	3.994574	0.31812813194657	0.56604	3.824046	0.999999931165258	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	5.08	5.08	0.68373	1.709000	0.37528	3.610000	0.39250	0.599000	0.40250	0.808000	0.29825	1.000000	0.68203	0.063000	0.16184	0.0:1.0:0.0:0.0	14.710	0.68837	109	0.95526	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1289.98	35	chr7	99621529	.	C	T	1289.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.451;DP=816;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.30;ReadPosRankSum=-4.440e-01;SOR=0.610	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr7	99665259	99665259	T	C	exonic	CYP3A5	.	nonsynonymous SNV	CYP3A5:NM_000777:exon7:c.A577G:p.I193V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	T	0.0	B	0.002	B	0.000	N	1.000	D	-0.09	N	-0.31	T	-1.016	T	0.088	T	0.067	-1.325	0.033	-2.13	-0.225	-0.263	9.204	0.116	0.0136273423735	.	.	8.238e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs370657167	6.156e-06	6.156e-06	8.167e-06	4.125e-06	8.094e-06	2.9e-06	2.1e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.094e-06	0	0	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.724	0.03880	T	0.988	0.02376	T	0.0	0.02946	B	0.002	0.06944	B	0.000143	0.49130	N	0.205064	1	0.81001	D	-0.12	0.04575	N	-0.31	0.68030	T	-0.15	0.09297	N	0.043	0.01577	-1.0156	0.25143	T	0.088	0.34133	T	10	0.075491965	0.11673	T	0.013627	0.33179	T	0.116	0.32463	0.64	0.77687	0.474722520063	0.47101	0.39442954219600573	0.39357	0.174241393469	0.19618	.	.	.	0.006068	0.05507	T	-0.236113	0.15849	T	-0.576936	0.14820	T	0.0467327123412175	0.04917	T	0.675932	0.28448	T	0.05300034	0.09966	0.04607512	0.06342	0.05300034	0.09965	0.04607512	0.06341	-6.154	0.47550	T	.	.	0.082	0.08899	B	.	.	-0.249942	0.02846	0.399	0.56577059287099596	0.05582	0.13812	0.18065	N	AEFGBCI	0.119320	0.23293	N	-1.46855884381392	0.02075	0.09125561	-1.47199601812314	0.02577	0.1187371	0.997884106344825	0.36150	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	3.84	-2.13	0.06745	-0.090000	0.11129	-12.077000	0.00552	0.665000	0.62972	0.118000	0.23139	0.000000	0.08366	0.027000	0.12703	0.0:0.6567:0.0:0.3433	9.204	0.36437	78	0.96748	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2655.98	35	chr7	99665259	.	T	C	2655.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.331e+00;DP=917;ExcessHet=0.0000;FS=1.653;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=0.258;SOR=0.582	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1383	20	0	1	0
chr7	99676187	99676187	-	C	exonic	CYP3A5	.	frameshift insertion	CYP3A5:NM_000777:exon2:c.92dupG:p.L32Tfs*3	.	.	424	1076	22	0	0	22	0.0101196	.	.	2825915	not_provided|CYP3A5-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0066	0.00339457	0.0075	0.0014	0.0034	0	0.0045	0.0110	0.0022	0.0054	0.0010758	28	26028	rs200579169	0.0081	0.0081	0.0081	0.0080	0.0091	0.0079	0.0079	0.0090	0.0089	0.0012	0.0047	0.0071	2.52e-05	0.0042	0.0069	0.0091	0.0074	0.0059	0.0059	0.0059	0.0059	0.0058	0.0094	0.0056	0.0054	0.0088	0.0085	0.0016	0	0.0063	0.0061	0	0.0026	0.0170	0.0094	0.0071	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2219.94	34	chr7	99676187	.	T	TC	2219.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.609e+00;DP=816;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.50;ReadPosRankSum=-6.730e-01;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1262	20	0	1	0
chr7	99676192	99676192	G	A	exonic	CYP3A5	.	nonsynonymous SNV	CYP3A5:NM_000777:exon2:c.C88T:p.H30Y	.	.	423	1077	22	0	0	22	0.0101103	.	.	2825916	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.46	T	0.009	B	0.033	B	0.003	N	1.000	N	1.04	L	3.04	T	-0.947	T	0.011	T	0.151	-1.015	0.239	1.87	0.209	1.409	8.276	0.071	.	0.0068	0.00339457	0.0075	0.0014	0.0034	0	0.0045	0.0110	0.0022	0.0054	0.0072121	1115	154602	rs28383468	0.0081	0.0081	0.0082	0.0080	0.0091	0.0079	0.0079	0.0090	0.0089	0.0012	0.0047	0.0071	2.52e-05	0.0042	0.0069	0.0091	0.0074	0.0060	0.0059	0.0059	0.0060	0.0058	0.0094	0.0056	0.0055	0.0088	0.0086	0.0016	0	0.0063	0.0060	0	0.0026	0.0170	0.0094	0.0071	0.0054	0.549	0.09486	T	1.0	0.16570	T	0.004	0.12183	B	0.012	0.16012	B	0.003281	0.35154	N	0.279306	1	0.08975	N	1.205	0.30389	L	3.04	0.08810	T	-1.73	0.68532	N	0.163	0.17553	-0.9473	0.41431	T	0.011	0.04274	T	10	0.004989326	0.00107	T	.	.	.	0.071	0.20720	.	.	0.163833314356	0.15978	0.8439105298094285	0.84352	0.245701231888	0.27094	.	.	.	0.004418	0.03828	T	-0.612135	0.00123	T	-0.644104	0.09373	T	0.00456155968340414	0.00049	T	0.811819	0.46320	T	0.048797607	0.08563	0.07286222	0.15767	0.048797607	0.08562	0.07286222	0.15767	-6.595	0.51015	T	.	.	0.136	0.29697	B	.;.	.;.	1.234343	0.16293	12.45	0.30315832732645831	0.01652	0.03138	0.08093	N	AEFBI	0.225843	0.34988	N	-1.31597404548288	0.03492	0.1560738	-1.31013412846963	0.04298	0.2024405	0.839449184831597	0.24839	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.78	1.87	0.24559	1.596000	0.36329	-0.031000	0.12795	-0.129000	0.13216	0.064000	0.21895	0.000000	0.08366	0.367000	0.26044	0.2274:0.0:0.7726:0.0	8.276	0.31035	76	0.96806	.;.	MOSPD3|TRIM4|GPC2|CYP3A4|STAG3	Adrenal_Gland|Colon_Transverse|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Testis	.	.	rs28383468	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2258.98	34	chr7	99676192	.	G	A	2258.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.696e+00;DP=816;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.67;ReadPosRankSum=-4.090e-01;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1262	20	0	1	0
chr7	99715815	99715815	C	T	exonic	CYP3A7;CYP3A7-CYP3A51P	.	nonsynonymous SNV	CYP3A7:NM_000765:exon7:c.G613A:p.E205K	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.0	B	0.002	B	0.140	N	1.000	N	-0.125	N	-0.23	T	-1.011	T	0.085	T	0.094	0.329	5.786	-2.14	-0.215	-0.401	5.793	0.053	0.0174488889623	.	0.000199681	0.0002	0	0	0	0	0	0	0.0016	0.0001746	27	154602	rs546078547	0.0001	0.0001	5.582e-05	0.0002	0.0017	9.2e-05	8.666e-05	0.0015	0.0014	2.989e-05	0	0	0	0	0.0002	8.994e-07	3.313e-05	0.0017	3.941e-05	4.593e-05	1.285e-05	6.716e-05	0.0010	1.715e-05	1.129e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.471e-05	0	0.0010	0.625	0.05229	T	0.873	0.03898	T	0.0	0.02946	B	0.002	0.06944	B	0.139832	0.18330	N	0.607393	1	0.08975	N	0.205	0.09354	N	-0.23	0.66652	T	-0.62	0.18248	N	0.204	0.22614	-1.0107	0.26698	T	0.085	0.33071	T	10	0.008140326	0.00185	T	0.017449	0.39153	T	0.053	0.14996	0.462	0.53079	0.391156786388	0.38726	0.552410353801837	0.55167	0.14433657637	0.16299	0.251646697521	0.03943	T	0.089586	0.38404	T	-0.564966	0.00237	T	-0.591575	0.13530	T	0.00609747600469235	0.00067	T	0.867113	0.56785	D	0.04523192	0.07368	0.08623859	0.19965	0.04523192	0.07368	0.08623859	0.19965	-8.335	0.63331	D	.	.	0.130	0.28578	B	.;.;.	.;.;.	0.453715	0.08239	4.977	0.68865164819364721	0.08791	0.01294	0.04502	N	AEFI	0.117126	0.22958	N	-1.47198821166534	0.02050	0.09010059	-1.47632035261607	0.02539	0.1169761	0.00729051426291692	0.11429	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	4.22	-2.14	0.06725	-0.361000	0.07664	-6.717000	0.01324	-0.306000	0.06133	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.2175:0.1907:0.5918	5.793	0.17637	87	0.96348	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2793.98	34	chr7	99715815	.	C	T	2793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.09;DP=964;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.82;MQRankSum=-4.310e-01;QD=10.54;ReadPosRankSum=-6.720e-01;SOR=0.680	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr7	99769805	99769805	G	A	exonic	CYP3A4	.	nonsynonymous SNV	CYP3A4:NM_001202855:exon6:c.C484T:p.R162W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.668	P	0.013	N	1.000	N	2.82	M	-0.41	T	-0.646	T	0.322	T	0.209	1.759	11.84	1.11	0.280	1.603	1.895	0.138	0.0262439418985	0.0005	0.00119808	0.0004	0.0039	0.0002	0	0	0	0	6.056e-05	0.0003234	50	154602	rs57409622	0.0001	0.0001	0.0002	0.0001	0.0042	0.0001	0.0001	0.0036	0.0034	0.0042	0.0003	0	2.52e-05	0	0.0002	3.508e-05	0.0002	1.159e-05	0.0011	0.0011	0.0010	0.0011	0.0034	0.0009	0.0009	0.0029	0.0028	0.0034	0	0.0010	0	0	0	0	2.942e-05	0.0014	0.0002	0.0	0.91255	D	0.001	0.83351	D	0.996	0.68779	D	0.668	0.53048	P	0.012510	0.29149	N	0.401211	1	0.08975	N	2.635	0.77114	M	-0.41	0.69413	T	-4.22	0.75854	D	0.312	0.35194	-0.6465	0.62866	T	0.322	0.69099	T	10	0.0127954185	0.00274	T	0.026244	0.49171	D	0.138	0.37187	.	.	0.828290835507	0.82666	.	.	0.380211241712	0.39388	0.286329835653	0.08391	T	0.607388	0.87506	D	-0.418608	0.01746	T	-0.374086	0.36413	T	0.0789335258750783	0.09849	T	0.316168	0.06277	T	0.20815632	0.43043	0.24913208	0.50477	0.20815632	0.43043	0.24913208	0.50476	-8.399	0.63758	D	.	.	0.151	0.33504	B	.	.	2.927137	0.38873	20.8	0.99744688466878428	0.83778	0.06487	0.12497	N	AEFGBI	0.507117	0.53755	D	-0.145141427438287	0.35442	2.035782	-0.386046575491545	0.25413	1.397359	8.53346240493347E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.76	1.11	0.19640	1.552000	0.35852	-1.138000	0.06217	0.618000	0.50648	0.028000	0.20300	0.000000	0.08366	0.004000	0.06068	0.1271:0.1137:0.2469:0.5123	1.895	0.03058	132	0.94697	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2938.98	33	chr7	99769805	.	G	A	2938.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=948;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.56;MQRankSum=-8.400e-02;QD=11.62;ReadPosRankSum=0.818;SOR=0.700	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1309	20	0	1	0
chr7	99967247	99967247	C	T	exonic	AZGP1	.	nonsynonymous SNV	AZGP1:NM_001185:exon4:c.G653A:p.G218E,	.	.	433	1077	12	0	0	12	0.00554017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.846	P	0.229	B	0.393	N	1.000	N	0.49	N	2.49	T	-1.002	T	0.017	T	0.14	1.440	10.76	-0.812	-0.107	0.806	5.776	0.065	0.00326016925302	0.0004	0.00139776	0.0012	0	0.0004	0	0	0.0004	0.0012	0.0067	0.0009961	154	154602	rs143279151	0.0007	0.0007	0.0006	0.0009	0.0066	0.0007	0.0007	0.0062	0.0060	0	0.0002	0.0007	2.52e-05	0.0002	0.0029	0.0004	0.0008	0.0066	0.0005	0.0005	0.0004	0.0006	0.0052	0.0004	0.0004	0.0036	0.0031	4.814e-05	0	6.54e-05	0	0	9.418e-05	0	0.0007	0.0005	0.0052	0.135	0.26192	T	0.397	0.15157	T	0.846	0.46778	P	0.229	0.38155	B	0.392890	0.13231	N	0.560804	1	0.08975	N	1.33	0.33268	L	2.49	0.14531	T	-1.04	0.27259	N	0.19	0.20793	-1.0017	0.29430	T	0.017	0.06807	T	10	0.005653262	0.00125	T	0.00326	0.07207	T	0.065	0.18881	.	.	0.183819452728	0.17975	0.23778752301862838	0.23692	0.626820738551	0.56799	0.284866601229	0.08181	T	0.043265	0.26446	T	-0.646846	0.00076	T	-0.699453	0.05855	T	0.0137905264553222	0.00260	T	0.385761	0.09460	T	0.14184114	0.32666	0.10176026	0.24369	0.14184114	0.32665	0.10176026	0.24368	-2.768	0.07892	T	.	.	0.107	0.20117	B	.	.	1.068956	0.14510	11.08	0.97325039628899845	0.33394	0.02164	0.06352	N	AEFDBI	0.168694	0.29548	N	-0.795793124756428	0.13420	0.6609288	-0.972459195986191	0.10407	0.5239265	7.08160034787942E-4	0.07666	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	2.34	-0.812	0.10306	-0.181000	0.09734	0.198000	0.15820	0.450000	0.21304	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.3528:0.0:0.6472	5.776	0.17542	158	0.93861	Immunoglobulin C1-set|Immunoglobulin-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1351.98	33	chr7	99967247	.	C	T	1351.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.09;MQRankSum=0.575;QD=13.13;ReadPosRankSum=0.861;SOR=0.677	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1371	20	0	1	0
chr7	100029881	100029881	C	G	exonic	ZKSCAN1	.	nonsynonymous SNV	ZKSCAN1:NM_001346579:exon4:c.C601G:p.P201A	.	.	424	1052	44	2	0	48	0.0223048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.99	D	0.824	P	0.004	N	1.000	D	0	N	3.14	T	-1.009	T	0.016	T	0.219	2.751	15.16	4.45	2.489	0.647	11.028	0.112	.	0.0059	0.00519169	0.0063	0.0009	0.0035	0	0.0011	0.0083	0.0077	0.0091	0.0062677	969	154602	rs148669042	0.0080	0.0080	0.0077	0.0083	0.0269	0.0079	0.0079	0.0234	0.0221	0.0011	0.0040	0.0220	5.038e-05	0.0011	0.0269	0.0082	0.0093	0.0121	0.0055	0.0055	0.0060	0.0050	0.0133	0.0052	0.0051	0.0107	0.0097	0.0012	0.0011	0.0038	0.0141	0.0002	0.0007	0.0442	0.0086	0.0076	0.0133	0.011	0.55530	D	0.145	0.35970	T	0.99	0.63424	D	0.824	0.59271	P	0.003763	0.34511	N	0.134244	0.93483	0.81001	D	2.14	0.59869	M	3.14	0.08194	T	-2.82	0.61129	D	0.386	0.42737	-1.0091	0.27198	T	0.016	0.06711	T	10	0.005372405	0.00118	T	.	.	.	0.112	0.31546	.	.	0.415459976574	0.41164	0.15639711510048188	0.15560	0.474146516114	0.46608	0.420085132122	0.27848	T	0.216012	0.57806	T	-0.535217	0.00358	T	-0.533617	0.18927	T	0.0379089392025617	0.03317	T	0.79512	0.43772	T	0.06449126	0.13687	0.07915261	0.17794	0.06449126	0.13687	0.07915261	0.17793	-7.57	0.58101	D	.	.	0.092	0.21315	B	.;.;.	.;.;.	3.067730	0.41219	21.3	0.99258197341911825	0.57121	0.63428	0.32086	D	AEFDBIJ	0.102707	0.20596	N	0.0266498543013345	0.43068	2.60718	0.00231240024793541	0.39823	2.367091	0.999999968925059	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.33	4.45	0.53365	0.767000	0.26238	2.758000	0.34584	0.599000	0.40250	0.244000	0.24789	1.000000	0.68203	0.043000	0.14563	0.0:0.9107:0.0:0.0893	11.028	0.46973	121	0.95159	.;.;.	.	.	.	.	rs148669042	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1686.98	38	chr7	100029881	.	C	G	1686.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.404;DP=808;ExcessHet=0.0000;FS=0.688;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.18;ReadPosRankSum=0.415;SOR=0.581	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr7	100072098	100072098	G	T	exonic	ZNF3	.	nonsynonymous SNV	ZNF3:NM_001318136:exon3:c.C407A:p.A136D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.622	P	0.282	B	0.000	D	1.000	D	1.7	L	5.13	T	-1.010	T	0.025	T	0.463	2.154	13.16	3.79	1.326	0.130	12.832	0.102	0.00711151489113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.312e-05	0	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0.0032	0	0	0	0.082	0.63226	T	0.14	0.33554	T	0.392	0.34646	B	0.193	0.36509	B	0.000081	0.51296	D	0.000000	0.738814	0.81001	D	1.665	0.42610	L	3.26	0.06681	T	-2.1	0.51319	N	0.375	0.41656	-1.0096	0.27043	T	0.025	0.10733	T	10	0.12552413	0.23855	T	0.007112	0.18841	T	0.102	0.29158	0.343	0.33626	0.298403945805	0.29456	0.2887298983177112	0.28785	0.643802632613	0.57903	0.329270809889	0.14824	T	0.057815	0.37685	T	-0.128799	0.31691	T	-0.422788	0.30756	T	0.834183394908905	0.48859	D	0.0338966	0.32694	T	0.36383352	0.58126	0.36909786	0.62186	0.36383352	0.58127	0.36909786	0.62186	-5.109	0.38002	T	.	.	0.107	0.27583	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.647802	0.34467	19.64	0.99160677703266464	0.54099	0.00528	0.02449	N	AEFBCI	0.113812	0.22442	N	-0.245913607738413	0.31267	1.751506	-0.228231548129235	0.30530	1.719715	0.992291598244726	0.32788	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.68	3.79	0.42757	1.305000	0.33098	1.295000	0.25437	0.618000	0.50648	0.698000	0.28607	0.657000	0.25995	0.992000	0.67800	0.0:0.1657:0.8343:0.0	12.832	0.57138	137	0.94565	.;.;.;.;.;.;Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1680.98	34	chr7	100072098	.	G	T	1680.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=-4.200e-02;SOR=0.665	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1327	20	0	1	0
chr7	100091145	100091145	C	G	exonic	COPS6	.	nonsynonymous SNV	COPS6:NM_006833:exon7:c.C642G:p.N214K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.94	T	0.009	B	0.007	B	0.000	D	1.000	D	0.515	N	0.99	T	-1.081	T	0.056	T	0.335	-0.895	0.448	3.95	1.265	1.758	10.884	0.064	0.0103224065615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.817	0.02981	T	0.962	0.02542	T	0.009	0.15093	B	0.007	0.12992	B	0.000000	0.84330	D	0.000000	0.999986	0.54805	D	0.58	0.15352	N	0.99	0.41750	T	-1.09	0.28290	N	0.417	0.45709	-1.0806	0.07233	T	0.056	0.23753	T	10	0.08614209	0.14613	T	0.010322	0.26719	T	0.064	0.18567	0.323	0.30387	0.408543089712	0.40467	0.5864734344488982	0.58577	1.07623771461	0.76979	0.846343994141	0.89062	D	0.155044	0.49659	T	-0.153099	0.27828	T	-0.457692	0.26851	T	0.111308917403221	0.13559	T	0.940606	0.77652	D	0.561692	0.70603	0.25344104	0.50992	0.561692	0.70605	0.25344104	0.50991	-3.884	0.22062	T	.	.	0.500	0.64763	A	.;.	.;.	2.193986	0.27977	17.64	0.78963326899557318	0.12530	0.95564	0.65224	D	AEFDGBHCI	0.623237	0.60726	D	-0.664837938029763	0.17030	0.8728471	-0.478046025752368	0.22760	1.237788	0.999999999811274	0.74766	0.675202	0.55065	0	0.697927	0.68747	0	0.67197	0.60751	0	0.723	0.93126	0	.	.	4.82	3.95	0.44952	1.851000	0.38978	0.810000	0.21743	-0.182000	0.10109	1.000000	0.71638	0.999000	0.35428	0.950000	0.49671	0.0:0.909:0.0:0.091	10.884	0.46168	151	0.94052	Rpn11/EIF3F, C-terminal;Rpn11/EIF3F, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2158.98	38	chr7	100091145	.	C	G	2158.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.262;DP=896;ExcessHet=0.0000;FS=1.935;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=0.978;SOR=0.790	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1473	20	0	1	0
chr7	100093380	100093380	C	T	exonic	MCM7	.	nonsynonymous SNV	MCM7:NM_001278595:exon13:c.G1342A:p.V448M	.	.	.	.	.	.	.	.	.	.	.	2778729	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.28	T	0.037	B	0.068	B	0.958	N	0.999	N	2.415	M	2.7	T	-0.977	T	0.048	T	0.051	1.261	10.11	4.21	1.060	0.318	6.372	0.114	0.0109095065229	7.7e-05	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs377697159	2.052e-06	2.052e-06	2.723e-06	1.375e-06	0.0002	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.18000	T	0.225	0.25514	T	0.037	0.20876	B	0.068	0.27651	B	0.958042	0.07699	N	1.019460	0.999904	0.22098	N	2.65	0.77586	M	2.7	0.12162	T	-1.02	0.28290	N	0.097	0.08646	-0.9774	0.35593	T	0.048	0.20592	T	10	0.145518	0.27601	T	0.01091	0.27979	T	0.114	0.32008	.	.	0.299427821978	0.29548	0.2581082542671685	0.25724	0.304257324427	0.32734	0.322473198175	0.13796	T	0.162558	0.50727	T	-0.346541	0.04947	T	-0.735559	0.04080	T	0.196657925844193	0.20229	T	0.857914	0.58729	D	0.15215948	0.34554	0.076592796	0.16979	0.15215948	0.34553	0.076592796	0.16979	-4.19	0.27853	T	0.2378874110891964	0.32219	0.078	0.08705	B	.;.;.	.;.;.	0.674982	0.10433	7.155	0.99135331596606047	0.53383	0.13968	0.18151	N	AEFDBHCI	0.040900	0.06148	N	-0.617471816444342	0.18420	0.9561375	-0.582555574401467	0.19948	1.072573	0.999999806152595	0.74766	0.645754	0.44609	0	0.697927	0.68747	0	0.697927	0.64325	0	0.723	0.93126	0	.	.	5.34	4.21	0.48984	0.092000	0.14905	0.304000	0.17011	-1.112000	0.01489	0.003000	0.16062	0.071000	0.22219	0.199000	0.21867	0.0:0.1919:0.0:0.8081	6.372	0.20691	164	0.93620	.;.;MCM domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1963.98	36	chr7	100093380	.	C	T	1963.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.220e-01;DP=889;ExcessHet=0.0000;FS=3.757;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=0.355;SOR=0.995	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1348	20	0	1	0
chr7	100095424	100095424	G	C	exonic	MCM7	.	nonsynonymous SNV	MCM7:NM_001278595:exon11:c.C1114G:p.P372A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.544	P	0.271	B	0.000	D	1.000	D	0.64	N	3.43	T	-0.891	T	0.017	T	0.623	2.819	15.39	6.17	2.941	9.359	18.373	0.264	0.0120950979936	.	.	9.634e-05	0	0	0	0	0	0	0.0007	7.12e-05	11	154602	rs753317834	4.721e-05	4.857e-05	1.77e-05	7.702e-05	0.0008	3.794e-05	3.476e-05	0.0006	0.0006	0	0	0	0	0	0	0	6.625e-05	0.0008	3.941e-05	3.94e-05	2.568e-05	5.377e-05	0.0012	1.715e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.577	0.08762	T	0.584	0.08390	T	0.544	0.37968	P	0.271	0.39904	B	0.000026	0.55875	D	0.122950	1	0.81001	D	1.41	0.35535	L	3.43	0.05440	T	-3.5	0.69714	D	0.514	0.54496	-0.8915	0.48802	T	0.017	0.06855	T	10	0.10683581	0.19817	T	0.012095	0.30348	T	0.264	0.57741	0.413	0.45052	0.423480098753	0.41964	0.4914550455734483	0.49066	0.294667049734	0.31886	0.554175972939	0.46446	T	0.203097	0.56146	T	-0.293689	0.09269	T	-0.31691	0.42913	T	0.251612012294001	0.22945	T	0.969436	0.89015	D	0.29971135	0.52879	0.1816631	0.41044	0.29971135	0.52879	0.1816631	0.41043	-6.083	0.46969	T	0.2263948090592401	0.30596	0.084	0.09578	B	.;.;.	.;.;.	3.270557	0.44771	22.0	0.95004743921192847	0.25970	0.98984	0.89542	D	AEFDBHCI	0.913372	0.87527	D	0.287157426551151	0.55496	3.713726	0.466724465724498	0.65799	4.869523	1.0	0.98316	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.17	6.17	0.99707	9.201000	0.94154	11.785000	0.96215	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:0.0:1.0:0.0	18.373	0.90364	175	0.93230	.;.;MCM domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2916.08	53	chr7	100095424	.	G	C	2916.08	.	AC=2;AF=0.048;AN=42;DP=1141;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.70;SOR=1.109	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1280	20	1	0	0
chr7	100097304	100097304	G	A	exonic	MCM7	.	nonsynonymous SNV	MCM7:NM_001278595:exon9:c.C670T:p.R224C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.605	H	2.68	T	-0.243	T	0.213	T	0.96	3.168	16.60	4.97	2.576	4.020	15.786	0.567	0.0692041261141	.	.	8.257e-06	0	0	0	0	0	0	6.061e-05	6.5e-06	1	154602	rs751951140	6.841e-06	6.84e-06	5.446e-06	8.251e-06	3.478e-05	3.46e-06	2.52e-06	9.24e-06	4.56e-06	2.987e-05	2.236e-05	0	2.519e-05	0	0	3.598e-06	0	3.478e-05	6.576e-06	6.568e-06	0	1.346e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.735	0.99541	H	2.68	0.12371	T	-7.46	0.95246	D	0.931	0.94196	-0.2435	0.76535	T	0.213	0.57388	T	10	0.97620755	0.97399	D	0.069204	0.70664	D	0.567	0.82346	0.895	0.97551	0.735064413055	0.73270	0.8550119253027142	0.85464	0.70934118667	0.61621	0.861420631409	0.91321	D	0.424213	0.77472	T	0.174183	0.71508	D	0.10928	0.77527	D	0.999736726284027	0.98729	D	0.999758	0.99944	D	0.826379	0.85652	0.8117977	0.89014	0.826379	0.85654	0.8117977	0.89015	-13.299	0.91038	D	0.8225686464243653	0.89525	0.670	0.82349	P	.;.;.	.;.;.	5.057284	0.84268	28.3	0.99930594590364741	0.99334	0.96331	0.68616	D	AEFDBHCI	0.803148	0.72837	D	0.872102097427494	0.90327	10.35442	0.701293106490905	0.82475	7.776669	0.999999998227694	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.97	4.97	0.65419	3.439000	0.52642	8.570000	0.77602	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.455000	0.28006	0.0:0.0:1.0:0.0	15.786	0.78072	182	0.92924	.;.;MCM domain|MCM domain|AAA+ ATPase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1902.98	33	chr7	100097304	.	G	A	1902.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.054;DP=844;ExcessHet=0.0000;FS=1.293;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=0.330;SOR=0.818	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1149	20	0	1	0
chr7	100106456	100106456	C	A	exonic	AP4M1	.	nonsynonymous SNV	AP4M1:NM_001363671:exon14:c.C1100A:p.A367D	Spastic paraplegia 50, autosomal recessive, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	561109	Hereditary_spastic_paraplegia_50|not_provided|AP4M1-related_disorder	MONDO:MONDO:0013048,MedGen:C2752008,OMIM:612936,Orphanet:280763|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.648	P	0.395	B	0.000	D	1.000	D	2.07	M	1.97	T	-0.712	T	0.235	T	0.877	2.039	12.78	3.84	2.501	3.496	5.687	0.223	0.0181712163048	0.0007	0.000399361	0.0002	0.0021	0.0002	0	0	0	0	0	0.0001682	26	154602	rs145979929	5.474e-05	5.472e-05	6.399e-05	4.539e-05	0.0015	4.478e-05	4.148e-05	0.0012	0.0011	0.0015	0.0002	0	0	0	0	8.993e-07	0.0003	1.159e-05	0.0004	0.0004	0.0004	0.0004	0.0014	0.0003	0.0003	0.0011	0.0010	0.0014	0	0.0005	0	0	0	0	0	0	0	0.48	0.17353	T	0.521	0.49663	T	0.418	0.35279	B	0.395	0.44317	B	0.000098	0.51296	D	0.168878	0.999275	0.49770	D	2.91	0.84121	M	1.97	0.22067	T	-0.81	0.29933	N	0.878	0.89465	-0.7121	0.59849	T	0.235	0.60173	T	10	0.021075487	0.00497	T	0.018171	0.40143	T	0.223	0.52023	.	.	0.494366844524	0.49069	0.7049237617629767	0.70434	0.296445930362	0.32028	0.523091733456	0.42061	T	0.196791	0.55328	T	-0.148278	0.28582	T	-0.00478209	0.70025	D	0.0560058229879815	0.06524	T	0.784422	0.42203	T	0.4149509	0.61754	0.33164316	0.59021	0.4149509	0.61754	0.33164316	0.59020	-6.265	0.48445	T	0.5328685046846257	0.60350	0.287	0.55733	B	.;.;.;.;.;.	.;.;.;.;.;.	4.118776	0.61550	24.4	0.98294027113363447	0.39983	0.80854	0.40388	D	AEFDBCI	0.517625	0.54366	D	0.316822792270723	0.57012	3.867087	0.349027807999993	0.58447	4.015427	0.999998942262695	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.81	3.84	0.43422	2.902000	0.48401	4.696000	0.44387	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.965000	0.52897	0.0:0.7883:0.0:0.2117	5.687	0.17079	208	0.91895	Mu homology domain|Mu homology domain;Mu homology domain|Mu homology domain;Mu homology domain|Mu homology domain;Mu homology domain|Mu homology domain;Mu homology domain|Mu homology domain;Mu homology domain|Mu homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1201.98	84	chr7	100106456	.	C	A	1201.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.887e+00;DP=1077;ExcessHet=0.0000;FS=1.693;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=-1.390e-01;SOR=0.474	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,106,1588	20	0	1	0
chr7	100106665	100106665	-	CCCAGGGCC	exonic	AP4M1	.	nonframeshift insertion	AP4M1:NM_001363671:exon15:c.1166_1167insCCCAGGGCC:p.P396_S397insGPP	Spastic paraplegia 50, autosomal recessive, Autosomal recessive	.	1	1519	2	0	0	2	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.395e-06	0	0	0	0	0	0	6.069e-05	3.84e-05	1	26028	rs748636084	5.484e-06	5.472e-06	5.456e-06	5.511e-06	0.0002	2.36e-06	1.71e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	1.801e-06	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	437.94	34	chr7	100106665	.	T	TCCCAGGGCC	437.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.263;DP=732;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.10;ReadPosRankSum=0.266;SOR=0.663	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1251	20	0	1	0
chr7	100107515	100107515	-	GGCGGTGGA	exonic	TAF6	.	nonframeshift insertion	TAF6:NM_001190415:exon15:c.1875_1876insTCCACCGCC:p.A625_T626insSTA	Alazami-Yuan syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1711.94	33	chr7	100107515	.	T	TGGCGGTGGA	1711.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.710e-01;DP=855;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.29;ReadPosRankSum=1.23;SOR=0.706	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr7	100153953	100153953	A	C	exonic	LAMTOR4	.	nonsynonymous SNV	LAMTOR4:NM_001318237:exon3:c.A208C:p.I70L	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.194	B	0.091	B	0.000	D	1.000	D	.	.	2.97	T	-1.024	T	0.011	T	0.23	3.257	16.93	2.86	0.396	2.024	5.653	0.034	0.0430791212957	0.0010	0.00219649	0.0008	0.0066	0.0007	0	0	0	0	0	0.0003881	60	154602	rs115350338	0.0001	0.0001	0.0002	9.573e-05	0.0040	0.0001	0.0001	0.0035	0.0033	0.0040	0.0005	0	0	0	0	9.102e-07	0.0004	4.885e-05	0.0010	0.0010	0.0011	0.0009	0.0035	0.0009	0.0008	0.0030	0.0028	0.0035	0	0.0007	0	0	0	0	0	0.0005	0	0.02	0.49613	D	0.039	0.51112	D	0.194	0.29493	B	0.091	0.29943	B	0.000139	0.49741	D	0.175960	1	0.81001	D	.	.	.	2.97	0.09450	T	-0.96	0.25551	N	0.135	0.17416	-1.0245	0.22246	T	0.011	0.04227	T	9	0.005545765	0.00122	T	0.043079	0.60796	D	0.034	0.08419	.	.	0.225902525712	0.22197	0.25831213443239776	0.25745	0.269601559135	0.29478	0.51018601656	0.40249	T	0.05394	0.29583	T	-0.535575	0.00356	T	-0.541964	0.18105	T	0.0237689974259855	0.01117	T	0.574842	0.20648	T	0.43376458	0.62998	0.16909185	0.38918	0.43376458	0.62999	0.16909185	0.38917	-2.561	0.06212	T	.	.	0.073	0.15877	B	.;.;.;.	.;.;.;.	2.525063	0.32633	19.10	0.98358265211249996	0.40618	0.80063	0.39803	D	AEFDBHCI	0.714042	0.66665	D	-0.182549033232511	0.33862	1.92597	-0.082878077944278	0.36096	2.096451	0.999999645194547	0.74766	0.722319	0.85440	0	0.697927	0.68747	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	5.26	2.86	0.32427	1.885000	0.39312	6.148000	0.54152	0.731000	0.85647	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.7395:0.1714:0.089:0.0	5.653	0.16903	229	0.91079	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	264.98	38	chr7	100153953	.	A	C	264.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.500e-02;DP=780;ExcessHet=0.0000;FS=5.792;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.14;ReadPosRankSum=1.22;SOR=1.327	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1620	20	0	1	0
chr7	100158169	100158169	C	A	exonic	MAP11	.	nonsynonymous SNV	MAP11:NM_018275:exon1:c.G331T:p.G111W,	.	.	403	1117	2	0	0	2	0.000894454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.988	D	0.003	N	1.000	D	0	N	0.7	T	-0.823	T	0.139	T	0.518	2.285	13.60	3.96	2.512	3.075	11.816	0.231	.	.	0.000199681	0.0007	0	0	0	0	0.0011	0.0294	0	8.41e-05	13	154602	rs536485612	0.0001	0.0001	9.966e-05	0.0002	0.0009	0.0001	0.0001	0.0007	0.0006	0	0.0001	5.109e-05	0	3.04e-05	0.0005	0.0001	0.0002	0.0009	8.546e-05	8.533e-05	3.859e-05	0.0001	0.0006	4.959e-05	3.964e-05	0.0002	9.003e-05	0	0	6.534e-05	0	0	9.422e-05	0	0.0001	0	0.0006	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.988	0.77976	D	0.002699	0.36102	N	0.177483	0.674682	0.33176	D	0	0.06538	N	0.7	0.51474	T	-1.26	0.31778	N	0.437	0.47580	-0.8231	0.53739	T	0.139	0.45715	T	10	0.08062863	0.13107	T	.	.	.	0.231	0.53208	0.2	0.11384	0.520213676446	0.51666	0.3585259903349923	0.35766	0.671166192088	0.59450	.	.	.	0.101135	0.40759	T	-0.274904	0.11215	T	-0.312647	0.43374	T	0.0993053991982656	0.12280	T	0.738226	0.35599	T	0.24056916	0.46961	0.18074307	0.40893	0.24056916	0.46961	0.18074307	0.40892	-6.933	0.53543	T	.	.	0.207	0.43311	B	.	.	4.170690	0.62707	24.5	0.97822546738632865	0.36207	0.55189	0.29802	D	AEFDBHCI	0.395514	0.47234	N	0.190396140304556	0.50737	3.26103	0.164074942236557	0.47893	3.012772	0.999999888638578	0.74766	0.65757	0.49021	0	0.298843	0.05288	2	0.619478	0.44681	0	0.492483	0.08430	1	.	.	3.96	3.96	0.45097	2.645000	0.46287	6.723000	0.56435	0.502000	0.22824	0.072000	0.22128	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	11.816	0.51487	234	0.90879	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	296.98	21	chr7	100158169	.	C	A	296.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.420e-01;DP=550;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.85;ReadPosRankSum=0.114;SOR=0.608	GT:AD:DP:GQ:PL	0/0:12,0:12:36:0,36,463	20	0	1	0
chr7	100173918	100173918	A	G	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon5:c.T809C:p.M270T,	.	.	425	1087	10	0	0	10	0.00457875	.	.	2675513	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.037	B	0.03	B	0.806	N	1.000	N	0.895	L	0.81	T	-0.984	T	0.082	T	0.258	0.832	8.358	-1.52	-0.224	0.220	3.249	0.028	0.0182527814312	0.0002	.	0.0003	0	0.0007	0	0.0002	0.0003	0.0011	0	0.000207	32	154602	rs199810091	0.0001	0.0001	0.0001	0.0001	0.0019	0.0001	0.0001	0.0011	0.0008	0	0.0003	0.0010	0	1.876e-05	0.0019	0.0001	0.0003	0.0001	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	0	0	0.0003	0.0012	0	9.416e-05	0.0102	0.0002	0	0	0.025	0.47320	D	0.23	0.25135	T	0.037	0.20876	B	0.03	0.21741	B	0.806378	0.06800	N	1.094290	1	0.08975	N	1.7	0.43825	L	0.81	0.48460	T	-0.93	0.24898	N	0.278	0.31478	-0.9836	0.34164	T	0.082	0.32178	T	10	0.041591376	0.02828	T	0.018253	0.40250	T	0.028	0.06331	.	.	0.136095386433	0.13204	0.25809384976511984	0.25723	0.385980496119	0.39890	0.395523667336	0.24445	T	0.129206	0.45735	T	-0.404977	0.02147	T	-0.487434	0.23659	T	0.010684724201195	0.00150	T	0.409559	0.10569	T	0.12205149	0.28689	0.112317055	0.27100	0.12205149	0.28689	0.112317055	0.27099	-1.892	0.02798	T	.	.	0.091	0.13032	B	.	.	1.914630	0.24320	16.35	0.63200447522113445	0.07161	0.04331	0.09890	N	AEFDBCI	0.035073	0.04452	N	-1.07710849372717	0.07067	0.3271935	-1.09424962846216	0.07812	0.3815308	0.506737191593842	0.20987	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.92	-1.52	0.08181	0.717000	0.25523	2.542000	0.33220	-0.121000	0.13915	0.028000	0.20300	0.568000	0.25556	0.638000	0.32368	0.14:0.3378:0.3966:0.1257	3.249	0.06406	283	0.88803	Glypican, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1641.98	36	chr7	100173918	.	A	G	1641.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.110e-01;DP=809;ExcessHet=0.0000;FS=1.488;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=1.43;SOR=0.514	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1302	20	0	1	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.002	B	0.003	B	0.012	N	1.000	N	-0.69	N	0.82	T	-1.039	T	0.045	T	0.096	1.174	9.778	2.18	0.152	0.340	7.051	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	15996.74	114	chr7	100175805	.	G	C	15996.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.177e+00;DP=2291;ExcessHet=54.0936;FS=322.385;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=7.42;ReadPosRankSum=0.978;SOR=13.359	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,25:81:99:0|1:100175805_G_C:730,0,2217:100175805	0	0	21	0
chr7	100182145	100182145	C	A	exonic	STAG3	.	nonsynonymous SNV	STAG3:NM_001282716:exon3:c.C172A:p.R58S	Premature ovarian failure 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2337196	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.499	P	0.033	B	0.092	N	1.000	N	2.175	M	1.88	T	-0.961	T	0.075	T	0.337	1.258	10.10	4.6	2.538	0.145	13.067	0.102	0.0155703864952	.	.	3.299e-05	0	0	0	0	6e-05	0	0	3.23e-05	5	154602	rs200232685	5.474e-05	5.541e-05	6.808e-05	4.126e-05	6.708e-05	4.478e-05	4.148e-05	5.074e-05	4.653e-05	0	6.708e-05	3.827e-05	0	0	0	6.295e-05	1.657e-05	5.797e-05	2.634e-05	2.627e-05	1.287e-05	4.047e-05	5.884e-05	8.16e-06	5.15e-06	1.973e-05	1.125e-05	0	0	0	0	0	0	0	5.884e-05	0	0	0.003	0.68238	D	0.029	0.92824	D	0.001	0.07471	B	0.006	0.12133	B	0.091610	0.20317	N	0.370961	1	0.08975	N	2.27	0.64531	M	1.88	0.27822	T	-1.07	0.83292	N	0.27	0.46649	-0.9610	0.38993	T	0.075	0.30242	T	10	0.12378469	0.23502	T	0.01557	0.36375	T	0.102	0.29158	0.222	0.14518	0.499535901811	0.49588	0.2756263458948395	0.27475	0.52393785997	0.50099	0.201897025108	0.00514	T	0.060095	0.40061	T	-0.285392	0.10104	T	-0.471876	0.25314	T	0.0947954803705215	0.11774	T	0.762324	0.38756	T	0.121911734	0.28657	0.09539669	0.22623	0.121911734	0.28657	0.09539669	0.22622	-3.038	0.10596	T	.	.	0.218	0.63329	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.052868	0.14339	10.92	0.96174661909403381	0.28939	0.05646	0.11558	N	AEFDBI	0.122012	0.23696	N	-0.435859252129776	0.24223	1.306374	-0.488076874729883	0.22480	1.221267	0.991180587039367	0.32402	0.653281	0.48532	0	0.547309	0.14657	0	0.675528	0.61593	0	0.542086	0.14980	0	.	.	4.6	4.6	0.56512	0.158000	0.16239	-0.225000	0.10728	-0.276000	0.06580	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:1.0:0.0:0.0	13.067	0.58452	278	0.89047	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1687.98	38	chr7	100182145	.	C	A	1687.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.994;DP=890;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=0.274;SOR=0.732	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1287	20	0	1	0
chr7	100220255	100220255	C	T	exonic	PVRIG	.	nonsynonymous SNV	PVRIG:NM_024070:exon3:c.C260T:p.T87M,	.	.	419	1058	42	3	0	48	0.0221811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.423	B	0.131	B	.	.	1.000	N	0.345	N	0.86	T	-1.059	T	0.038	T	0.126	-0.065	3.683	-5.57	-1.950	-4.471	1.981	0.024	.	0.0056	0.00539137	0.0118	0.0024	0.0084	0	0.0065	0.0159	0.0040	0.0115	0.0050905	787	154602	rs141119008	0.0082	0.0081	0.0079	0.0085	0.0206	0.0081	0.0080	0.0174	0.0162	0.0012	0.0038	0.0220	5.337e-05	0.0012	0.0206	0.0084	0.0097	0.0126	0.0054	0.0054	0.0059	0.0048	0.0130	0.0051	0.0050	0.0105	0.0095	0.0011	0.0011	0.0033	0.0141	0.0002	0.0007	0.0408	0.0085	0.0071	0.0130	0.02	0.49613	D	0.072	0.43344	T	0.423	0.35444	B	0.131	0.32951	B	.	.	.	.	0.999992	0.08975	N	0.345	0.11182	N	0.86	0.46777	T	-1.6	0.38540	N	0.186	0.20262	-1.0587	0.12083	T	0.038	0.16376	T	9	0.0037819445	0.00071	T	.	.	.	0.024	0.04979	.	.	0.126345400529	0.12197	0.4692787638282187	0.46846	0.127832058936	0.14418	0.452407717705	0.32272	T	0.007966	0.07338	T	-0.617701	0.00114	T	-0.649673	0.08977	T	0.0105413282560264	0.00146	T	0.276672	0.04749	T	0.026393538	0.01691	0.061903115	0.12027	0.026393538	0.01691	0.061903115	0.12027	-6.774	0.52365	T	.	.	0.113	0.22318	B	.	.	-0.969443	0.00816	0.027	0.87147751602030721	0.17021	0.02800	0.07520	N	AEFDBCIJ	0.029109	0.02687	N	-1.63495431186654	0.01100	0.04775162	-1.77743499817207	0.00834	0.03725871	0.99999982209636	0.74766	0.660377	0.49826	0	0.672317	0.65289	0	0.696353	0.63694	0	0.508809	0.08732	0	.	.	2.78	-5.57	0.02321	-4.778000	0.00217	-3.665000	0.02620	-1.816000	0.00606	0.000000	0.06391	0.000000	0.08366	0.205000	0.22041	0.3123:0.3941:0.162:0.1317	1.981	0.03217	290	0.88477	.	.	.	.	.	rs141119008	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1437.98	48	chr7	100220255	.	C	T	1437.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.158e+00;DP=969;ExcessHet=0.0000;FS=0.814;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.98;ReadPosRankSum=0.260;SOR=0.812	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1449	20	0	1	0
chr7	100314556	100314556	C	T	exonic	SPDYE3	.	nonsynonymous SNV	SPDYE3:NM_001004351:exon6:c.C1007T:p.P336L,	.	.	587	933	0	2	0	4	0.00213904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	.	.	.	.	.	.	1.000	N	0.55	N	.	.	-1.008	T	0.052	T	0.188	-0.872	0.499	.	0.151	0.654	.	0.035	.	.	0.00219649	0.0016	0	0.0004	0	0	0.0001	0	0.0101	0.0007244	112	154602	rs185181307	0.0004	0.0004	0.0002	0.0006	0.0058	0.0004	0.0004	0.0054	0.0052	0	6.932e-05	0	0	0	0.0006	2.291e-05	0.0006	0.0058	0.0003	0.0003	0.0001	0.0005	0.0090	0.0002	0.0002	0.0067	0.0059	5.806e-05	0	0	0	0	0	0	0	0	0.0090	0.292	0.14894	T	0.247	0.23914	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	.	.	.	-2.2	0.49519	N	0.071	0.04426	-1.0080	0.27541	T	0.052	0.22076	T	4	0.005325198	0.00117	T	.	.	.	0.035	0.08770	.	.	0.043077524339	0.03247	0.010637752304975092	0.01024	1.47686996324	0.86643	.	.	.	0.029378	0.21062	T	-0.531388	0.00377	T	-0.534021	0.18886	T	0.037379401505994	0.03223	T	0.130787	0.01031	T	0.05646106	0.11112	0.12803924	0.30810	0.05646106	0.11112	0.12803924	0.30810	-10.428	0.76432	D	.	.	0.187	0.40344	B	.	.	0.967640	0.13443	9.954	0.25846354168856783	0.01211	0.03055	0.07955	N	AEFI	0.036323	0.04822	N	-0.741398034514801	0.14869	0.7443482	-0.90416226674536	0.11995	0.6145253	1.10530146109008E-6	0.01202	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	0.632000	0.24273	-8.038000	0.01039	.	.	0.998000	0.41325	0.000000	0.08366	.	.	.	.	.	266	0.89551	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02632	497.71	60	chr7	100314556	.	C	T	497.71	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.049e+00;DP=595;ExcessHet=0.0000;FS=5.265;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=38.56;MQRankSum=-3.420e-01;QD=8.30;ReadPosRankSum=0.914;SOR=0.404	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1003	18	0	1	2
chr7	100319686	100319686	C	T	exonic	SPDYE3	.	nonsynonymous SNV	SPDYE3:NM_001004351:exon9:c.C1468T:p.R490C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	1.1	L	.	.	-1.000	T	0.066	T	0.344	1.012	9.135	-0.298	-1.112	-2.341	.	0.065	0.000460228980264	.	.	.	.	.	.	.	.	.	.	.	.	.	rs755684175	2.736e-06	2.736e-06	2.722e-06	2.75e-06	3.478e-05	6.4e-07	4.3e-07	9.24e-06	4.56e-06	2.987e-05	0	0	0	0	0	0	0	3.478e-05	1.314e-05	1.313e-05	0	2.69e-05	0.0001	2.18e-06	8.2e-07	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	0	0	0	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.2	0.09183	N	.	.	.	-2.59	0.55821	D	0.288	0.32591	-1.0001	0.29888	T	0.066	0.27364	T	5	0.11067763	0.20695	T	4.6E-4	0.00116	T	0.065	0.18881	0.404	0.43573	0.043077524339	0.03247	0.11460460068778605	0.11388	0.0817590803949	0.09208	.	.	.	0.088056	0.38077	T	-0.20404	0.20224	T	-0.434012	0.29480	T	0.495971736190381	0.32482	T	0.573743	0.20563	T	0.20751792	0.42960	0.1761592	0.40131	0.20751792	0.42960	0.1761592	0.40130	-3.99	0.23654	T	.	.	0.185	0.40015	B	.	.	1.557765	0.19955	14.52	0.9781672580798233	0.36168	0.00044	0.00357	N	AEFDBI	0.023460	0.01311	N	-1.21792395420769	0.04740	0.2145745	-1.45606106176701	0.02716	0.1254249	2.11768540850389E-5	0.03498	0.615465	0.37627	0	0.577304	0.33150	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	0.149	-0.298	0.12179	-2.401000	0.01126	-7.613000	0.01120	-3.566000	0.00075	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	281	0.88893	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2061.98	33	chr7	100319686	.	C	T	2061.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.600e-02;DP=863;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.20;ReadPosRankSum=1.06;SOR=0.716	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1136	20	0	1	0
chr7	100397887	100397887	C	T	exonic	PILRA	.	nonsynonymous SNV	PILRA:NM_178272:exon3:c.C463T:p.R155W	.	.	429	1080	13	0	0	13	0.00598251	.	.	2326771	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.996	D	0.529	P	0.002	N	1.000	N	0	N	2.18	T	-1.061	T	0.078	T	0.147	0.844	8.409	-1.06	-0.396	-0.259	.	0.080	0.0075073592782	.	.	0.0001	0	0.0002	0	0	0.0002	0.0011	6.057e-05	9.7e-05	15	154602	rs145267648	0.0001	0.0001	9.394e-05	0.0001	0.0016	9.116e-05	8.647e-05	0.0008	0.0006	2.987e-05	0.0002	7.655e-05	0	0.0001	0.0016	8.004e-05	0.0001	0.0003	7.23e-05	7.224e-05	5.139e-05	9.418e-05	0.0001	3.972e-05	3.128e-05	6.805e-05	5.088e-05	0	0	0	0	0	9.416e-05	0	0.0001	0.0005	0	0.012	0.63226	D	0.047	0.60972	D	0.964	0.68779	D	0.19	0.48508	B	0.001824	0.00831	N	4.618180	1	0.08975	N	0	0.06538	N	1.94	0.47130	T	-1.52	0.39503	N	0.309	0.38129	-1.0611	0.11483	T	0.078	0.31103	T	8	0.10436025	0.19236	T	0.007507	0.19926	T	0.080	0.23350	0.326	0.30873	0.674474796302	0.67171	0.14263974150336126	0.14186	0.351789939051	0.37014	0.267911761999	0.05869	T	0.020315	0.16015	T	-0.475711	0.00784	T	-0.610584	0.11938	T	0.95445841550827	0.64269	D	0.488651	0.16810	T	0.07939582	0.18135	0.06556812	0.13308	0.07939582	0.18135	0.06556812	0.13308	-6.732	0.52051	T	.	.	0.116	0.23535	B	.;.;.;.	.;.;.;.	2.111184	0.26865	17.27	0.88563559718445806	0.18076	0.05298	0.11144	N	AEFDGBHCI	0.111057	0.22000	N	-0.885393462336706	0.11190	0.538643	-1.08674837798117	0.07960	0.3893695	0.999998747555319	0.74766	0.495158	0.18159	0	0.378119	0.05977	1	0.535252	0.11790	0	0.584449	0.35598	0	.	.	0.641	-1.06	0.09491	-0.257000	0.08765	-0.289000	0.10208	0.333000	0.19617	0.000000	0.06391	0.000000	0.08366	0.106000	0.18562	.	.	.	450	0.79359	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	313.98	47	chr7	100397887	.	C	T	313.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.56;DP=734;ExcessHet=0.0000;FS=1.239;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.68;ReadPosRankSum=-3.140e-01;SOR=0.446	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1212	20	0	1	0
chr7	100399831	100399831	C	T	exonic	PILRA	.	nonsynonymous SNV	PILRA:NM_178272:exon6:c.C617T:p.S206L	.	.	431	1049	39	3	0	45	0.0209986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	B	0.099	B	0.006	N	1.000	N	1.04	L	0.65	T	-1.067	T	0.042	T	0.125	1.648	11.47	2.46	0.431	0.902	5.521	0.051	.	0.0118	0.00559105	0.0113	0.0020	0.0019	0.0001	0.0088	0.0147	0.0067	0.0173	0.0106661	1649	154602	rs34266222	0.0099	0.0099	0.0096	0.0101	0.0176	0.0097	0.0097	0.0169	0.0166	0.0015	0.0022	0.0518	0	0.0092	0.0080	0.0092	0.0113	0.0176	0.0083	0.0083	0.0083	0.0082	0.0160	0.0079	0.0077	0.0131	0.0120	0.0020	0.0022	0.0032	0.0547	0	0.0084	0.0136	0.0109	0.0085	0.0160	0.113	0.91255	T	0.243	0.34837	T	0.053	0.29046	B	0.019	0.30579	B	0.005733	0.32555	N	0.000000	1	0.08975	N	1.355	0.33814	L	0.65	0.52642	T	-1.96	0.45404	N	0.161	0.19995	-1.0669	0.10108	T	0.042	0.17869	T	9	0.0024999976	0.00038	T	.	.	.	0.051	0.14325	.	.	.	.	0.11323491982903096	0.11251	0.176822401337	0.19894	0.318505644798	0.13194	T	0.02106	0.16467	T	-0.536475	0.00352	T	-0.529105	0.19376	T	0.00560833987177457	0.00061	T	0.605339	0.22755	T	0.033658035	0.03627	0.044622328	0.05823	0.033658035	0.03627	0.044622328	0.05823	-3.657	0.18685	T	.	.	0.086	0.10787	B	.;.	.;.	1.285668	0.16857	12.81	0.89942232312080983	0.19239	0.05843	0.11786	N	AEFDBI	0.026036	0.01885	N	-1.08455630630354	0.06927	0.3203013	-1.08829502313267	0.07930	0.3877462	0.96931527846712	0.29119	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.24	2.46	0.29032	0.917000	0.28286	1.313000	0.25551	-0.997000	0.01825	0.035000	0.20724	0.179000	0.23406	0.001000	0.02609	0.1586:0.6712:0.0:0.1703	5.521	0.16222	450	0.79359	.;.	.	.	.	.	rs34266222	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2059.98	33	chr7	100399831	.	C	T	2059.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.276e+00;DP=864;ExcessHet=0.0000;FS=2.739;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=-8.230e-01;SOR=0.645	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1163	20	0	1	0
chr7	100416308	100416308	C	G	exonic	ZCWPW1	.	nonsynonymous SNV	ZCWPW1:NM_001258008:exon7:c.G628C:p.A210P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.996	D	0.925	D	0.126	N	1.000	N	1.04	L	0.47	T	-0.965	T	0.211	T	0.357	2.943	15.81	2.0	0.487	-0.454	3.297	0.160	0.0139127086188	.	.	1.656e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs768069661	7.53e-06	8.688e-05	6.812e-06	8.256e-06	9.899e-06	4.04e-06	2.95e-06	5.31e-06	3.88e-06	0	0	0	0	0	0	9.899e-06	0	0	6.579e-06	6.569e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.017	0.64786	D	0.981	0.68779	D	0.77	0.65999	P	0.126267	0.02769	N	1.915940	1	0.08975	N	2.295	0.65404	M	0.44	0.57575	T	-1.52	0.51157	N	0.105	0.18649	-0.9651	0.38191	T	0.211	0.57134	T	9	0.07359043	0.11990	T	0.013913	0.33663	T	0.160	0.41473	0.167	0.07186	0.0846915920261	0.08053	0.2553416396724554	0.25448	0.235566991127	0.26085	0.326068282127	0.14340	T	0.032045	0.22312	T	-0.244567	0.14771	T	-0.363378	0.37660	T	0.256688277327145	0.23170	T	0.49905	0.36376	T	0.28358757	0.51390	0.2510205	0.50705	0.28358757	0.51390	0.2510205	0.50704	-4.084	0.25054	T	.	.	0.131	0.29004	B	.;.;.	.;.;.	2.654947	0.34573	19.67	0.99736852657666464	0.83192	0.04517	0.10144	N	AEFDI	0.143022	0.26562	N	-0.221500259265149	0.32253	1.816927	-0.35189881764483	0.26449	1.461059	0.00411306419695172	0.10422	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.27	2.0	0.25495	-0.453000	0.06853	-0.115000	0.11785	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.958000	0.51230	0.2112:0.5376:0.0:0.2512	3.297	0.06560	453	0.79178	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	128.88	67	chr7	100416308	.	C	G	128.88	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-3.008e+00;DP=1836;ExcessHet=0.6776;FS=205.333;InbreedingCoeff=-0.1450;MLEAC=3;MLEAF=0.083;MQ=60.00;MQRankSum=0.00;QD=0.38;ReadPosRankSum=0.612;SOR=11.906	GT:AD:DP:GQ:PL	0/0:74,22:112:38:0,38,1559	14	0	4	3
chr7	100419158	100419158	T	C	exonic	ZCWPW1	.	nonsynonymous SNV	ZCWPW1:NM_001258008:exon5:c.A314G:p.E105G	.	.	437	1034	49	2	0	53	0.0249882	.	.	2840634	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	1.0	D	0.998	D	0.000	D	1.000	D	1.7	L	-0.04	T	-0.759	T	0.190	T	0.673	4.300	22.5	5.59	2.257	3.873	12.446	0.186	.	0.0037	0.00519169	0.0060	0.0004	0.0081	0.0001	0.0009	0.0060	0.0089	0.0133	0.0056015	866	154602	rs141450215	0.0047	0.0047	0.0042	0.0052	0.0340	0.0046	0.0045	0.0301	0.0286	0.0006	0.0067	0.0242	0.0001	0.0008	0.0340	0.0037	0.0066	0.0128	0.0041	0.0042	0.0042	0.0041	0.0157	0.0039	0.0038	0.0129	0.0118	0.0006	0.0055	0.0061	0.0196	0	0.0010	0.0306	0.0048	0.0085	0.0157	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000189	0.48115	D	0.000000	1	0.81001	D	2.14	0.59869	M	-0.04	0.63403	T	-2.58	0.55662	D	0.656	0.66615	-0.7591	0.57455	T	0.190	0.54183	T	9	0.007864803	0.00179	T	.	.	.	0.186	0.46104	.	.	0.250579442822	0.24687	0.24123072230755827	0.24037	0.699819188154	0.61061	0.477081626654	0.35655	T	0.026106	0.19387	T	-0.217994	0.18268	T	-0.074878	0.65276	T	0.0250965068058876	0.01285	T	0.768523	0.39806	T	0.43225837	0.62900	0.48678872	0.70298	0.43225837	0.62900	0.48678872	0.70299	-9.733	0.73473	D	.	.	0.418	0.66060	A	.;.	.;.	5.010167	0.83197	28.0	0.99919301830838392	0.98654	0.73008	0.35719	D	ALL	0.709088	0.66329	D	0.317644890854957	0.57054	3.871421	0.397648003033706	0.61420	4.341826	0.999998930392949	0.74766	0.533608	0.22052	0	0.68618	0.66647	0	0.685742	0.62368	0	0.620976	0.48614	0	.	.	5.59	5.59	0.84677	3.787000	0.55144	7.906000	0.73790	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	12.446	0.54989	453	0.79178	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1289.98	36	chr7	100419158	.	T	C	1289.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.210e-01;DP=817;ExcessHet=0.0000;FS=0.682;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=0.958;SOR=0.624	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1264	20	0	1	0
chr7	100436019	100436019	G	A	exonic	PPP1R35	.	stopgain	PPP1R35:NM_001346938:exon2:c.C280T:p.Q94X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.93	T	.	.	.	.	0.124	N	1.000	A	.	.	.	.	.	.	.	.	.	3.898	19.82	2.69	0.515	0.652	6.154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.152e-06	2.052e-06	0	4.353e-06	9.223e-07	5.7e-07	1.6e-07	.	.	0	0	0	0	0	0	9.223e-07	3.435e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123512	0.02747	N	1.847450	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.051	0.02272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23905	0.77571	D	0.105603	0.77279	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.197810	0.87191	29.2	0.99233781840303126	0.56310	0.10211	0.15780	N	AEFDGBHCI	0.032935	0.03815	N	0.0969464975234919	0.46319	2.874192	-0.209374271304585	0.31197	1.763393	0.999999999985705	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.581474	0.35302	0	.	.	4.51	2.69	0.30923	-0.186000	0.09666	0.081000	0.14390	-0.216000	0.08207	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.1026:0.189:0.7084:0.0	6.154	0.19547	473	0.77910	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	620.98	34	chr7	100436019	.	G	A	620.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.349e+00;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.71;ReadPosRankSum=-9.960e-01;SOR=0.593	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1169	20	0	1	0
chr7	100456874	100456874	T	C	exonic	C7orf61	.	nonsynonymous SNV	C7orf61:NM_001004323:exon3:c.A499G:p.K167E,	.	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.093	B	0.054	B	0.285	N	1.000	N	1.1	L	.	.	-1.012	T	0.069	T	0.228	2.366	13.87	0.765	0.312	1.268	3.423	0.008	0.00538080861487	.	0.00179712	0.0012	0.0001	0	0	0	0	0.0012	0.0085	0.0009379	145	154602	rs556655296	0.0005	0.0005	0.0002	0.0007	0.0079	0.0005	0.0004	0.0074	0.0072	0	0	0	0	0	0.0003	3.598e-06	0.0005	0.0079	0.0002	0.0003	0.0002	0.0003	0.0071	0.0002	0.0002	0.0052	0.0045	4.813e-05	0	0	0	0	0	0	1.47e-05	0.0005	0.0071	0.0	0.91255	D	0.0	0.92824	D	0.093	0.25333	B	0.054	0.25828	B	0.284899	0.14876	N	0.552285	1	0.08975	N	1.495	0.37439	L	.	.	.	-3.01	0.62518	D	0.303	0.34228	-1.0121	0.26259	T	0.069	0.28346	T	9	0.00404948	0.00079	T	0.005381	0.13801	T	0.008	0.00669	0.347	0.34274	0.107399877778	0.10242	0.11659926617462393	0.11587	0.507287636852	0.48913	.	.	.	0.235772	0.60310	T	-0.42292	0.01639	T	-0.374157	0.36403	T	0.109670491158198	0.13389	T	0.562644	0.19782	T	0.45883346	0.64598	0.38965398	0.63780	0.45883346	0.64599	0.38965398	0.63780	-3.647	0.18539	T	.	.	0.262	0.49693	B	.	.	2.293111	0.29335	18.09	0.99047930340268964	0.51185	0.15248	0.18818	N	AEFDBHCI	0.071098	0.14141	N	-0.691675138522135	0.16258	0.8266929	-0.713284860511812	0.16631	0.8806638	0.992308140689655	0.32792	0.656854	0.48797	0	0.69481	0.67340	0	0.505578	0.09266	0	0.635551	0.53088	0	.	.	4.48	0.765	0.17616	1.250000	0.32453	1.389000	0.26100	0.665000	0.62972	0.601000	0.27755	1.000000	0.68203	0.181000	0.21328	0.0:0.2134:0.2041:0.5825	3.423	0.06973	411	0.82069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5912.08	34	chr7	100456874	.	T	C	5912.08	.	AC=2;AF=0.048;AN=42;DP=879;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.62;SOR=0.747	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1213	20	1	0	0
chr7	100562303	100562303	G	A	exonic	AGFG2	.	nonsynonymous SNV	AGFG2:NM_006076:exon7:c.G922A:p.A308T,	.	.	398	1117	7	0	0	7	0.00312361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.036	B	0.005	B	0.276	N	1.000	D	1.01	L	1.82	T	-1.052	T	0.027	T	0.195	0.497	6.698	1.06	0.020	0.541	8.952	0.050	.	0.0052	0.00259585	0.0063	0.0005	0.0025	0	0.0294	0.0073	0.0044	0.0024	0.0059378	918	154602	rs147498213	0.0072	0.0072	0.0074	0.0069	0.0074	0.0071	0.0070	0.0073	0.0072	0.0011	0.0031	0.0041	0	0.0261	0.0038	0.0074	0.0057	0.0026	0.0070	0.0070	0.0060	0.0079	0.0075	0.0066	0.0065	0.0070	0.0068	0.0016	0.0011	0.0054	0.0040	0	0.0342	0	0.0075	0.0062	0.0012	0.529	0.07048	T	0.384	0.15794	T	0.036	0.20732	B	0.005	0.11217	B	0.275701	0.15041	N	0.651840	1	0.81001	D	1.745	0.45235	L	1.82	0.25018	T	-0.66	0.19085	N	0.05	0.02179	-1.0525	0.13709	T	0.027	0.11618	T	10	0.002654612	0.00041	T	.	.	.	0.050	0.13987	.	.	0.0297737177859	0.01360	0.4199298073848164	0.41908	0.304500079718	0.32754	0.321576416492	0.13661	T	0.008227	0.07566	T	-0.573428	0.00211	T	-0.588505	0.13795	T	0.00125930116032515	0.00012	T	0.541246	0.18358	T	0.0203131	0.00586	0.03746761	0.03407	0.0203131	0.00586	0.03746761	0.03407	-4.475	0.30560	T	.	.	0.071	0.03736	B	.	.	0.874942	0.12478	9.011	0.87287483406138588	0.17120	0.44155	0.27256	N	AEFDBCI	0.057516	0.10720	N	-1.3036995822345	0.03633	0.162622	-1.21166962651975	0.05722	0.2734266	0.999674898766267	0.41644	0.67177	0.52595	0	0.702456	0.74545	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	4.8	1.06	0.19341	0.386000	0.20429	3.350000	0.37777	-3.602000	0.00072	0.536000	0.27236	1.000000	0.68203	0.001000	0.02609	0.2714:0.0:0.7286:0.0	8.952	0.34953	.	.	.	.	.	.	.	chr7:100159926	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1352.98	36	chr7	100562303	.	G	A	1352.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.972;DP=814;ExcessHet=0.0000;FS=6.260;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=0.481;SOR=0.326	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1204	20	0	1	0
chr7	100578739	100578739	C	T	exonic	LRCH4	.	nonsynonymous SNV	LRCH4:NM_001289934:exon5:c.G646A:p.V216I	.	.	415	1068	36	3	0	42	0.0192837	.	.	722191	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.005	B	0.015	B	0.005	N	1.000	D	-1.445	N	1.6	T	-1.010	T	0.013	T	0.052	0.214	5.153	0.518	-0.087	-0.266	8.271	0.016	.	0.0061	0.00539137	0.0065	0.0012	0.0045	0.0005	0.0011	0.0083	0.0067	0.0095	0.0065458	1012	154602	rs52833865	0.0082	0.0082	0.0079	0.0086	0.0183	0.0081	0.0081	0.0154	0.0144	0.0011	0.0046	0.0272	0.0005	0.0011	0.0183	0.0083	0.0101	0.0119	0.0056	0.0056	0.0061	0.0051	0.0112	0.0053	0.0052	0.0088	0.0079	0.0012	0	0.0045	0.0182	0.0008	0.0007	0.0240	0.0086	0.0071	0.0112	0.674	0.04508	T	0.97	0.02484	T	0.005	0.12996	B	0.015	0.17295	B	0.005035	0.33162	N	0.284157	1	0.81001	D	-1.16	0.00885	N	1.6	0.28604	T	-0.17	0.09627	N	0.174	0.18649	-1.0099	0.26949	T	0.013	0.05033	T	9	0.0044373274	0.00091	T	.	.	.	0.016	0.02506	.	.	0.192905019026	0.18896	0.4818438412615061	0.48104	0.508704530814	0.49020	0.35497829318	0.18653	T	0.032921	0.22695	T	-0.691137	0.00041	T	-0.756152	0.03253	T	0.00214425450445367	0.00022	T	0.80342	0.45053	T	0.010749503	0.00010	0.02109572	0.00173	0.010749503	0.00010	0.02109572	0.00173	-8.727	0.65923	D	.	.	0.069	0.03026	B	.	.	0.199449	0.05846	2.285	0.71578719883934938	0.09677	0.18084	0.20113	N	AEFBCI	0.073505	0.14704	N	-1.13517341753917	0.06028	0.2763963	-0.977898119563235	0.10282	0.5168703	0.98300840906797	0.30489	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.66	0.518	0.16228	-0.228000	0.09119	0.830000	0.21939	-0.873000	0.02525	0.000000	0.06391	0.943000	0.28828	0.864000	0.41028	0.0:0.6194:0.0:0.3806	8.271	0.31002	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	935.98	36	chr7	100578739	.	C	T	935.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.690e-01;DP=763;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.33;ReadPosRankSum=-5.470e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1395	20	0	1	0
chr7	100586662	100586662	C	T	exonic	FBXO24	.	nonsynonymous SNV	FBXO24:NM_033506:exon1:c.C37T:p.R13W,	.	.	419	1101	2	0	0	2	0.000907441	0.0378	0.188	2317117	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.005	B	0.002	B	0.087	U	1.000	N	0	N	2.23	T	-1.060	T	0.054	T	0.354	3.278	17.00	0.881	0.462	0.235	4.528	0.056	0.00972046601535	0.0002	0.000199681	9.916e-05	0.0006	8.658e-05	0	0	4.505e-05	0	0.0001	9.7e-05	15	154602	rs116312858	6.909e-05	6.909e-05	8.032e-05	5.775e-05	0.0009	5.78e-05	5.391e-05	0.0004	0.0003	0.0006	0.0002	3.826e-05	2.519e-05	0	0.0009	4.497e-05	8.279e-05	0.0001	0.0002	0.0002	0.0002	8.055e-05	0.0005	0.0001	9.232e-05	0.0004	0.0003	0.0005	0	0	0	0	0	0	1.47e-05	0.0005	0	0.0	0.91255	D	0.002	0.79402	D	0.003	0.12996	B	0.001	0.06944	B	0.087318	0.20540	U	0.251955	0.81752	0.28924	N	0.345	0.11182	N	2.23	0.52867	T	0.59	0.23590	N	0.174	0.38541	-1.0604	0.11656	T	0.054	0.22959	T	10	0.0346255	0.01678	T	0.00972	0.25381	T	0.056	0.15993	.	.	0.63994544947	0.63697	.	.	.	.	.	.	.	0.014133	0.12091	T	-0.259336	0.12978	T	-0.256261	0.49196	T	0.0964987119763146	0.11967	T	0.674733	0.28305	T	0.18366118	0.39645	0.109796554	0.26466	0.18366118	0.39645	0.109796554	0.26466	-6.174	0.47898	T	.	.	0.280	0.54190	B	.;.	.;.	4.188335	0.63110	24.5	0.99850254181312281	0.92925	0.78472	0.38720	D	ALL	0.393167	0.47092	N	-0.598692380621512	0.18984	0.9900635	-0.468423077683545	0.23029	1.253782	0.999999999998845	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	4.14	0.881	0.18301	0.047000	0.13941	-0.897000	0.07005	-0.314000	0.05961	0.986000	0.36153	0.000000	0.08366	0.972000	0.54974	0.4022:0.4867:0.0:0.1111	4.528	0.11397	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	920.98	34	chr7	100586662	.	C	T	920.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.93;DP=768;ExcessHet=0.0000;FS=3.031;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.96;ReadPosRankSum=-2.451e+00;SOR=0.418	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1093	20	0	1	0
chr7	100589673	100589673	C	-	exonic	FBXO24	.	frameshift deletion	FBXO24:NM_012172:exon1:c.33delC:p.Q12Kfs*41,	.	.	365	1155	2	0	0	2	0.000865052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.463e-06	1.368e-06	1.435e-06	1.492e-06	.	2.4e-07	9e-08	.	.	0	0	0	0	2.055e-05	0	0	1.771e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	936.94	34	chr7	100589672	.	GC	G	936.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.009e+00;DP=772;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.44;ReadPosRankSum=1.84;SOR=0.725	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1143	20	0	1	0
chr7	100613631	100613631	G	C	exonic	MOSPD3	.	nonsynonymous SNV	MOSPD3:NM_001040099:exon3:c.G406C:p.G136R	.	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.761	P	0.394	B	0.228	N	0.997	D	0.69	N	.	.	-1.046	T	0.116	T	0.488	2.629	14.75	4.12	2.588	4.064	14.691	0.086	0.00464972261195	0.0008	0.000798722	0.0013	0	0.0003	0	0.0002	0.0021	0.0011	0.0008	0.0012613	195	154602	rs137921044	0.0011	0.0011	0.0011	0.0012	0.0043	0.0011	0.0010	0.0030	0.0026	0.0002	0.0004	0.0003	0	0.0002	0.0043	0.0013	0.0012	0.0010	0.0008	0.0008	0.0007	0.0009	0.0015	0.0007	0.0006	0.0010	0.0009	0.0003	0	0.0015	0	0	9.422e-05	0.0068	0.0010	0.0043	0.0004	0.095	0.31235	T	0.204	0.27235	T	0.392	0.34646	B	0.265	0.39681	B	0.228109	0.15983	N	0.562918	0.995363	0.43707	D	0	0.06538	N	.	.	.	-1.96	0.45404	N	0.466	0.50237	-1.0458	0.15592	T	0.116	0.41097	T	9	0.009234905	0.00209	T	0.00465	0.11534	T	0.086	0.25016	0.128	0.03331	0.416202232284	0.41236	0.3452238182820563	0.34436	0.761597943512	0.64286	0.649458944798	0.59909	T	0.192928	0.54824	T	-0.335457	0.05709	T	-0.267867	0.48035	T	0.0182981109104174	0.00549	T	0.858514	0.54939	D	0.12973379	0.30292	0.14189322	0.33776	0.12973379	0.30292	0.14189322	0.33775	-3.185	0.14695	T	.	.	0.159	0.36908	B	.;.;.;.;.	.;.;.;.;.	3.095149	0.41689	21.4	0.9951831737054706	0.69100	0.81012	0.40509	D	AEFGBCI	0.731940	0.67885	D	0.0762909080252874	0.45358	2.793705	0.176137047585506	0.48542	3.068813	0.999999984665784	0.74766	0.706298	0.61202	0	0.662677	0.63036	0	0.709663	0.75317	0	0.651492	0.60203	0	.	.	4.12	4.12	0.47504	2.644000	0.46279	9.207000	0.79216	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.0:0.0:1.0:0.0	14.691	0.68694	702	0.57624	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	707.98	47	chr7	100613631	.	G	C	707.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.750e-01;DP=831;ExcessHet=0.0000;FS=17.740;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.85;ReadPosRankSum=-1.887e+00;SOR=2.477	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1216	20	0	1	0
chr7	100686347	100686347	A	G	exonic	GIGYF1	.	nonsynonymous SNV	GIGYF1:NM_001375759:exon11:c.T781C:p.C261R	.	.	.	.	.	.	.	.	.	.	.	3254791	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.54	T	0.002	B	0.002	B	0.000	D	1.000	D	-0.975	N	-1.54	D	-0.897	T	0.159	T	0.227	2.169	13.21	3.78	2.076	2.337	8.098	0.253	0.0453357966243	.	.	.	.	.	.	.	.	.	.	.	.	.	rs920549298	2.747e-06	2.737e-06	2.733e-06	2.76e-06	2.705e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.705e-06	1.663e-05	0	7.165e-06	6.864e-06	1.384e-05	0	1.55e-05	0	0	.	.	0	0	0	0	0	0	0	1.55e-05	0	0	0.427	0.09629	T	0.575	0.08654	T	0.002	0.09854	B	0.002	0.06944	B	0.000357	0.45440	D	0.100331	0.999966	0.52935	D	.	.	.	-1.54	0.81640	D	0.71	0.02130	N	0.659	0.66873	-0.8972	0.48273	T	0.159	0.49195	T	10	0.115104884	0.21676	T	0.045336	0.61931	D	0.253	0.56294	0.371	0.38176	0.0934897674506	0.08844	0.06266416966597502	0.06206	0.33676110885	0.35672	0.556362748146	0.46754	T	0.024337	0.18409	T	-0.0547235	0.43726	T	-0.316383	0.42970	T	0.182741704795398	0.19407	T	0.717928	0.33070	T	0.38251677	0.59498	0.2224231	0.47086	0.38251677	0.59499	0.2224231	0.47085	-1.053	0.01060	T	.	.	0.159	0.35183	B	.;.	.;.	2.942063	0.39120	20.9	0.968650616307144	0.31396	0.84654	0.43739	D	AEFDBCI	0.124312	0.24030	N	-0.573521925456215	0.19752	1.036215	-0.3495622874745	0.26522	1.465513	0.942625605242243	0.27530	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.94	3.78	0.42629	2.356000	0.43770	6.571000	0.55968	0.735000	0.85950	0.997000	0.40164	1.000000	0.68203	0.862000	0.40904	0.7764:0.2236:0.0:0.0	8.098	0.29999	712	0.56465	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	665.98	38	chr7	100686347	.	A	G	665.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.830e-01;DP=757;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-1.153e+00;SOR=0.752	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr7	100751208	100751208	C	G	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon13:c.C1548G:p.S516R	.	.	430	1010	80	2	0	84	0.039924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.005	B	0.008	B	0.385	N	1.000	N	1.65	L	4.45	T	-0.924	T	0.009	T	0.351	1.887	12.27	1.3	0.355	1.068	3.906	0.040	.	0.0013	0.00459265	0.0058	0.0005	0.0020	0	0.0004	0.0027	0.0268	0.0286	0.0043078	666	154602	rs201142260	0.0026	0.0027	0.0018	0.0035	0.0262	0.0026	0.0025	0.0253	0.0249	0.0004	0.0011	0.0036	5.046e-05	0.0004	0.0192	0.0010	0.0036	0.0262	0.0021	0.0021	0.0014	0.0028	0.0270	0.0019	0.0018	0.0232	0.0218	0.0002	0	0.0017	0.0040	0	0.0007	0.0274	0.0016	0.0038	0.0270	.	.	.	0.008	0.67890	D	0.005	0.12996	B	0.008	0.13708	B	0.384634	0.04441	N	1.496520	1	0.08975	N	1.8	0.47472	L	4.45	0.02121	T	-2.3	0.51157	N	0.184	0.23125	-0.9240	0.44999	T	0.009	0.03448	T	10	0.00474146	0.00100	T	.	.	.	0.040	0.10527	0.594	0.72371	0.124217242631	0.12060	0.2111362059142021	0.21029	0.206476620277	0.23073	0.291453421116	0.09133	T	0.015962	0.13288	T	-0.437129	0.01344	T	-0.381758	0.35516	T	0.00894263022229421	0.00111	T	0.441056	0.12198	T	0.052750442	0.09883	0.06545608	0.13270	0.052750442	0.09883	0.06545608	0.13270	-3.859	0.21689	T	.	.	0.124	0.26138	B	.;.;.;.	.;.;.;.	0.704592	0.10733	7.424	0.98809529819632336	0.46590	0.06952	0.12979	N	AEFBI	0.069409	0.13736	N	-0.963840597858447	0.09384	0.4439173	-1.04830437396366	0.08743	0.4313272	1.4977826586808E-5	0.02871	0.06567	0.01388	0	0.063388	0.01293	0	0.060301	0.00762	0	0.075334	0.01956	0	.	.	3.13	1.3	0.20778	0.784000	0.26477	0.778000	0.21455	-0.182000	0.10109	0.001000	0.13787	0.248000	0.23899	0.004000	0.06068	0.2358:0.6362:0.0:0.128	3.906	0.08682	702	0.57624	MAM domain|MAM domain|MAM domain|MAM domain;MAM domain|MAM domain|MAM domain|MAM domain;MAM domain|MAM domain|MAM domain|MAM domain;MAM domain|MAM domain|MAM domain|MAM domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1163.98	35	chr7	100751208	.	C	G	1163.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.740e-01;DP=769;ExcessHet=0.0000;FS=3.951;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.19;ReadPosRankSum=1.22;SOR=0.295	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,99,1485	20	0	1	0
chr7	100752676	100752801	CACCATCCCCACAGAAAAACCCACCATCTCCCCAGAAAAACTCACCATCCCCACGGAAAAACTCACCATCCCCACGGAAAAACCCACCATCCCCATTGAAGAGACTACCATCTCCACAGAAAAACT	-	exonic	ZAN	.	nonframeshift deletion	ZAN:NM_003386:exon14:c.2571_2696del:p.L871_K912del	.	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0002	0	0.0003	0.0003	0	0.0002	.	.	.	.	0.0014	0.0018	0.0015	0.0014	0.0024	0.0014	0.0013	0.0015	0.0013	0.0003	0.0011	0.0055	0.0004	0.0020	0.0024	0.0014	0.0016	0.0013	0.0044	0.0054	0.0049	0.0039	0.0063	0.0041	0.0040	0.0058	0.0056	0.0018	0.0011	0.0024	0.0079	0.0024	0.0052	0.0296	0.0063	0.0029	0.0028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4515.94	34	chr7	100752675	.	CCACCATCCCCACAGAAAAACCCACCATCTCCCCAGAAAAACTCACCATCCCCACGGAAAAACTCACCATCCCCACGGAAAAACCCACCATCCCCATTGAAGAGACTACCATCTCCACAGAAAAACT	C	4515.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=1290;ExcessHet=0.0000;FS=2.435;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.50;MQRankSum=-4.163e+00;QD=8.35;ReadPosRankSum=-4.975e+00;SOR=0.529	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1097	20	0	1	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	11054.86	98	chr7	100773851	.	A	G,*	11054.86	.	AC=6,31;AF=0.143,0.738;AN=42;DP=2409;ExcessHet=1.1607;FS=0.796;InbreedingCoeff=-0.1351;MLEAC=6,31;MLEAF=0.143,0.738;MQ=60.00;QD=4.79;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,105:105:99:1|1:100773849_CCAT_C:4725,4725,4725,316,316,0:100773849	0	1	0	0
chr7	100773854	100773854	G	0	exonic	ZAN	.	.	.	.	.	428	134	463	356	141	1316	0.814276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	68137.53	98	chr7	100773854	.	G	GTT,*	68137.53	.	AC=31,6;AF=0.738,0.143;AN=42;BaseQRankSum=0.460;DP=2329;ExcessHet=1.1607;FS=0.793;InbreedingCoeff=-0.1351;MLEAC=31,6;MLEAF=0.738,0.143;MQ=60.00;MQRankSum=0.00;QD=29.50;ReadPosRankSum=0.812;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,105,0:105:99:1|1:100773849_CCAT_C:4725,316,0,4725,316,4725:100773849	0	11	5	0
chr7	100779666	100779666	C	T	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon35:c.C6538T:p.L2180F	.	.	414	1084	24	0	0	24	0.0109489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.907	P	0.642	P	0.651	N	1.000	D	.	.	-1.25	T	-0.565	T	0.379	T	0.161	2.874	15.57	2.29	0.680	0.769	4.804	0.283	0.01989167839	0.0007	0.000998403	0.0031	0	0	0	0.0010	0.0036	0	0.0048	0.0013001	201	154602	rs368183208	0.0014	0.0014	0.0012	0.0015	0.0088	0.0013	0.0013	0.0068	0.0061	0.0002	0.0005	0.0003	0	0.0002	0.0088	0.0013	0.0017	0.0045	0.0009	0.0009	0.0007	0.0011	0.0025	0.0008	0.0007	0.0014	0.0011	0.0003	0	0.0016	0	0	9.413e-05	0.0136	0.0011	0.0038	0.0025	.	.	.	0.091	0.40426	T	0.907	0.50062	P	0.642	0.52168	P	0.650508	0.10517	N	0.773450	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.095	0.08646	-0.5645	0.66231	T	0.379	0.73640	T	9	0.049238354	0.04484	T	0.019892	0.42364	T	0.283	0.60100	.	.	0.0401082797425	0.02173	0.6052475545878986	0.60455	0.0746738777092	0.08380	0.309243559837	0.11792	T	0.126171	0.45237	T	-0.328308	0.06241	T	-0.243964	0.50411	T	0.102104824956605	0.12587	T	0.569643	0.20265	T	0.046199527	0.07691	0.06566402	0.13342	0.046199527	0.07691	0.06566402	0.13342	-7.077	0.57491	T	.	.	0.107	0.20235	B	.;.;.;.	.;.;.;.	1.834756	0.23309	15.97	0.99104606594449074	0.52572	0.28562	0.23588	N	AEFBI	0.068160	0.13433	N	-0.216513731733043	0.32457	1.830584	-0.335393843403519	0.26965	1.493027	8.95811513548799E-6	0.01202	0.06567	0.01388	0	0.059962	0.00310	0	0.044551	0.00207	1	0.075334	0.01956	0	.	.	4.17	2.29	0.27658	1.386000	0.34025	0.521000	0.19165	-0.175000	0.10903	0.892000	0.31242	0.087000	0.22477	0.020000	0.11549	0.2413:0.6457:0.0:0.113	4.804	0.12677	684	0.59539	Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2158.11	36	chr7	100779666	.	C	T	2158.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.24;DP=910;ExcessHet=0.1072;FS=2.832;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=-6.800e-02;SOR=0.924	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	19	0	2	0
chr7	100788077	100788077	G	A	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon38:c.G7168A:p.E2390K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	1.0	D	0.999	D	0.000	D	0.993	N	.	.	0.17	T	-0.654	T	0.345	T	0.704	3.844	19.53	4.77	2.594	4.500	14.006	0.329	0.00873774916547	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.794e-06	2.736e-06	1.386e-06	4.223e-06	0.0004	6.5e-07	4.4e-07	6.253e-05	2.581e-05	0	0	0	0	0	0.0004	0	3.383e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000087	0.51296	D	0.000000	0.993447	0.23711	N	.	.	.	.	.	.	.	.	.	0.69	0.70088	-0.6539	0.62543	T	0.345	0.71012	T	9	0.835575	0.82714	D	0.008738	0.23074	T	0.329	0.65126	0.658	0.79585	0.0482279557977	0.04254	0.7992308216242588	0.79876	0.0772813241879	0.08684	0.549436211586	0.45778	T	0.025664	0.19147	T	0.300886	0.83039	D	0.194426	0.82820	D	0.998421311378479	0.94111	D	0.817118	0.47377	T	0.07565627	0.17060	0.14346682	0.34095	0.07565627	0.17060	0.14346682	0.34094	-8.957	0.67420	D	.	.	0.263	0.49731	B	.;.;.;.	.;.;.;.	3.232649	0.44089	21.9	0.9885997767807565	0.47459	0.91955	0.54626	D	AEFDGBI	0.546049	0.56031	D	0.323371730328422	0.57349	3.901994	0.204809258581609	0.50113	3.206886	0.393746371250219	0.20069	0.080785	0.02172	0	0.096583	0.02683	0	0.060301	0.00762	0	0.058706	0.01089	0	.	.	4.77	4.77	0.60425	4.323000	0.59010	7.474000	0.59184	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.068000	0.16518	0.0:0.0:1.0:0.0	14.006	0.63981	698	0.58074	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1083.98	37	chr7	100788077	.	G	A	1083.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.23;DP=1044;ExcessHet=0.0000;FS=0.736;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.59;ReadPosRankSum=-6.640e-01;SOR=0.569	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	20	0	1	0
chr7	100819562	100819562	C	T	exonic	EPHB4	.	nonsynonymous SNV	EPHB4:NM_004444:exon6:c.G1292A:p.R431Q,	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.984	D	0.567	P	0.000	D	0.998	D	-0.385	N	0.69	T	-1.025	T	0.072	T	0.134	1.399	10.61	5.46	2.563	2.119	16.780	0.132	0.00454258667063	.	.	9.06e-06	0	0	0	0	0	0.0013	0	6.5e-06	1	154602	rs74779801	4.273e-06	4.788e-06	2.799e-06	5.8e-06	4.64e-06	1.54e-06	1.01e-06	1.36e-06	9.9e-07	0	0	0	0	1.956e-05	0	4.64e-06	0	0	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.984	0.60733	D	0.413	0.44885	B	0.000142	0.49130	D	0.000000	0.998212	0.44638	D	-0.445	0.02820	N	0.69	0.51714	T	1.93	0.00441	N	0.186	0.20262	-1.0250	0.22083	T	0.072	0.29291	T	10	0.06991157	0.10098	T	0.004543	0.11189	T	0.132	0.35948	0.34	0.33141	0.521978482128	0.51842	0.3612875509600573	0.36042	0.569716738074	0.53141	0.407445728779	0.26103	T	0.066958	0.33077	T	-0.205668	0.19993	T	-0.533204	0.18968	T	0.619259655475616	0.37175	D	0.844815	0.52285	T	0.12745142	0.29823	0.095643505	0.22692	0.12745142	0.29823	0.095643505	0.22691	-3.697	0.19274	T	0.12343182987437135	0.11961	0.103	0.19316	B	.;.	.;.	2.786649	0.36622	20.3	0.9743123735578566	0.33926	0.81969	0.41271	D	AEFDBI	0.249216	0.36949	N	-0.12749144407549	0.36197	2.089124	0.0181776272658777	0.40559	2.422504	0.999999998352416	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.46	5.46	0.80021	2.620000	0.46075	4.817000	0.45088	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.718000	0.34707	0.0:1.0:0.0:0.0	16.780	0.85423	691	0.58815	Fibronectin type III;Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2393.98	33	chr7	100819562	.	C	T	2393.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=909;ExcessHet=0.0000;FS=2.452;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=-4.400e-01;SOR=0.884	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1245	20	0	1	0
chr7	100823805	100823805	C	T	exonic	EPHB4	.	nonsynonymous SNV	EPHB4:NM_004444:exon3:c.G250A:p.V84I,	.	.	.	.	.	.	.	.	.	.	.	1841967	Lymphatic_malformation_7|Capillary_malformation-arteriovenous_malformation_2|Cardiovascular_phenotype	MONDO:MONDO:0015009,MedGen:C4310629,OMIM:617300|MONDO:MONDO:0020785,MedGen:C4748670,OMIM:618196|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.268	B	0.076	B	0.407	N	1.000	N	0	N	2.98	T	-1.018	T	0.013	T	0.074	1.737	11.77	3.13	2.452	0.622	2.523	0.104	0.0118722675887	.	0.000199681	1.709e-05	0	0	0	0	1.562e-05	0.0012	0	1.94e-05	3	154602	rs201465765	1.232e-05	1.3e-05	1.09e-05	1.376e-05	0.0002	7.7e-06	6.35e-06	9.24e-06	4.56e-06	0	0	0	2.519e-05	1.9e-05	0.0002	8.994e-06	3.314e-05	3.479e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.007	0.59928	D	0.012	0.63918	D	0.224	0.30397	B	0.076	0.28435	B	0.406795	0.13050	N	0.670270	1	0.08975	N	0.69	0.16971	N	2.98	0.09356	T	-0.36	0.13035	N	0.271	0.30687	-1.0177	0.24463	T	0.013	0.04938	T	10	0.08167815	0.13399	T	0.011872	0.29919	T	0.104	0.29647	.	.	0.143184338766	0.13958	0.35407230007921375	0.35321	0.381343856186	0.39492	0.667281329632	0.62451	T	0.051854	0.28997	T	-0.374441	0.03375	T	-0.675005	0.07291	T	0.0757057347964016	0.09429	T	0.943706	0.78720	D	0.21934722	0.44464	0.12224237	0.29489	0.21934722	0.44464	0.12224237	0.29489	-8.733	0.66830	D	0.2578162527659566	0.34838	0.097	0.17953	B	.;.;.	.;.;.	2.102933	0.26757	17.23	0.99304274371313006	0.58759	0.13681	0.17992	N	AEFDBI	0.102451	0.20550	N	-0.629581072847032	0.18059	0.9345709	-0.574809057997968	0.20151	1.084371	0.999984056878891	0.51787	0.722319	0.85440	0	0.610034	0.51514	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	5.23	3.13	0.35090	1.259000	0.32559	2.188000	0.31185	0.587000	0.30956	0.001000	0.13787	0.979000	0.30280	0.563000	0.30483	0.1946:0.5107:0.1872:0.1075	2.523	0.04400	697	0.58201	Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin type-B receptor 4, ligand binding domain;Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin type-B receptor 4, ligand binding domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2394.98	34	chr7	100823805	.	C	T	2394.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.72;DP=878;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=1.17;SOR=0.678	GT:AD:DP:GQ:PL	0/1:94,91:185:99:2409,0,2252	20	0	1	0
chr7	100868158	100868158	G	T	exonic	TRIP6	.	nonsynonymous SNV	TRIP6:NM_003302:exon3:c.G288T:p.E96D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.262	B	0.053	B	0.002	N	0.764	N	1.735	L	0.25	T	-0.967	T	0.123	T	0.1	1.947	12.47	1.7	0.348	0.067	3.431	0.033	0.0075994319735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.37750	T	0.252	0.23570	T	0.262	0.31549	B	0.053	0.25678	B	0.001724	0.38161	N	0.250672	0.764004	0.29509	N	1.04	0.26193	L	0.25	0.59449	T	-1.06	0.27669	N	0.244	0.27554	-0.9667	0.37874	T	0.123	0.42631	T	10	0.11557481	0.21777	T	0.007599	0.20166	T	0.033	0.08068	0.159	0.06287	0.52635699587	0.52282	0.36726145325230936	0.36640	0.294708336404	0.31886	0.675391256809	0.63609	T	0.02655	0.19622	T	-0.114338	0.34053	T	-0.402015	0.33151	T	0.173788579307855	0.18834	T	0.732227	0.34774	T	0.15142912	0.34425	0.15788019	0.36896	0.15142912	0.34425	0.15788019	0.36895	-7.236	0.55739	T	.	.	0.183	0.39630	B	.	.	2.191259	0.27940	17.63	0.9762922814671311	0.35012	0.47451	0.27986	N	ALL	0.292725	0.40352	N	-0.350107705092659	0.27267	1.494703	-0.315627889682366	0.27593	1.532257	0.999999999950848	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.66	1.7	0.23359	-0.085000	0.11215	2.952000	0.35717	0.676000	0.76740	0.915000	0.31815	1.000000	0.68203	0.724000	0.34901	0.2169:0.0:0.5811:0.202	3.431	0.07000	705	0.57330	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3917.08	36	chr7	100868158	.	G	T	3917.08	.	AC=2;AF=0.048;AN=42;DP=849;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.64;SOR=0.726	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	1	0	0
chr7	100952482	100952482	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A703G:p.S235G,	.	.	399	1114	9	0	0	9	0.00402325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	.	.	.	.	0.345	N	.	.	-0.993	T	0.063	T	0.131	0.622	7.348	0.393	0.097	0.439	4.798	0.049	.	.	.	0.0094	0.0041	0.0246	0.0565	0.0041	0.0013	0.0047	0.0108	0.0071991	1113	154602	rs762341908	0.0007	0.0043	0.0007	0.0007	0.0128	0.0006	0.0006	0.0118	0.0114	0.0003	0.0039	0	0.0128	0.0010	0.0005	0.0001	0.0009	0.0014	0.0048	0.0059	0.0042	0.0054	0.0568	0.0045	0.0044	0.0514	0.0493	0.0030	0	0.0078	0	0.0568	0.0043	0	0.0011	0.0071	0.0121	0.0	0.91255	D	0.045	0.49390	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.09354	N	.	.	.	-2.14	0.48523	N	0.028	0.00882	-0.9930	0.31827	T	0.063	0.26172	T	5	0.0028196573	0.00045	T	.	.	.	0.049	0.13647	.	.	0.0297737177859	0.01360	0.06476662103955722	0.06415	.	.	.	.	.	.	.	.	-0.224203	0.17424	T	-0.559828	0.16394	T	0.0110277637410068	0.00159	T	0.359064	0.08235	T	0.03313288	0.03473	0.05993371	0.11332	0.03313288	0.03473	0.05993371	0.11331	-4.816	0.34777	T	.	.	0.127	0.27100	B	.;.	.;.	0.382560	0.07547	4.195	0.70278890112480152	0.09244	0.02841	0.07592	N	AEFDBI	0.094914	0.19185	N	-0.810609427635655	0.13038	0.6395816	-0.986195816652993	0.10094	0.5062862	0.998344668229717	0.36796	0.538715	0.22204	0	0.596491	0.49125	0	0.78367	0.99111	0	0.663205	0.64265	0	.	.	1.61	0.393	0.15517	0.057000	0.14157	-0.306000	0.10077	-0.825000	0.02924	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.8085:0.0:0.1915:0.0	4.798	0.12651	809	0.43032	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	9638.11	417	chr7	100952482	.	A	G	9638.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.270e+00;DP=8868;ExcessHet=0.1072;FS=1.166;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=1.37;SOR=0.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:461,0:461:99:.:.:0,120,1800	19	0	2	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	358.48	781	chr7	100952945	.	C	*,A	358.48	.	AC=19,2;AF=0.452,0.048;AN=42;BaseQRankSum=1.12;DP=13562;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=19,2;MLEAF=0.452,0.048;MQ=58.45;MQRankSum=-8.589e+00;QD=0.03;ReadPosRankSum=1.76;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:487,190,2:679:99:.:.:6512,0,19877,7894,20365,28337	0	0	19	0
chr7	100953028	100953028	-	GTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCAC	exonic	MUC3A	.	frameshift insertion	MUC3A:NM_005960:exon2:c.1249_1250insGTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCAC:p.A417Gfs*177,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	36435.43	913	chr7	100953028	.	G	A,GGTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCAC	36435.43	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-2.516e+00;DP=15155;ExcessHet=17.4423;FS=4.148;InbreedingCoeff=-0.5556;MLEAC=14,1;MLEAF=0.333,0.024;MQ=57.92;MQRankSum=-3.081e+00;QD=3.07;ReadPosRankSum=3.23;SOR=1.199	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:750,0,0:750:99:.:.:0,120,1800,120,1800,1800	6	0	14	0
chr7	100953071	100953071	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1292T:p.S431F,	.	.	416	1044	62	0	0	62	0.0288372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.386e-06	0.0028	3.574e-06	5.169e-06	4.765e-06	1.29e-06	9.3e-07	1.12e-06	7.5e-07	0	0	0	0	2.69e-05	0	4.765e-06	0	0	0	0.0042	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.07811	.	.	.	.	.	.	.	0.0868344	0.14800	T	.	.	.	.	.	.	.	.	.	0.019857046747126048	0.01938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475152	0.14192	T	.	.	.	.	.	.	.	.	-7.542	0.57905	D	.	.	0.254	0.48827	B	.;.	.;.	0.947004	0.13229	9.730	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337000	0.19582	-1.142000	0.06206	0.529000	0.24592	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1667	8258.55	795	chr7	100953071	.	C	T	8258.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=3.74;DP=15016;ExcessHet=2.5830;FS=6.358;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=57.50;MQRankSum=-3.156e+00;QD=1.60;ReadPosRankSum=-2.712e+00;SOR=1.526	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:862,0:862:99:.:.:0,120,1800	14	0	7	0
chr7	100953083	100953083	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1304A:p.T435N,	.	.	427	1053	42	0	0	42	0.0195531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.138e-05	0.0029	1.486e-05	8.081e-06	1.475e-05	6.11e-06	4.46e-06	6.09e-06	4.41e-06	0	0	0	0	2.853e-05	0	1.294e-05	0	1.475e-05	2.978e-05	0.0051	5.866e-05	0	0.0004	4.94e-06	1.85e-06	.	.	6.829e-05	0	0	0	0.0004	0	0	0	0	0	.	.	.	0.28	0.21678	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.02179	.	.	.	.	.	.	.	0.05432555	0.05765	T	.	.	.	.	.	.	.	.	.	0.037030229045629026	0.03650	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.40416	0.10358	T	.	.	.	.	.	.	.	.	-4.954	0.36336	T	.	.	0.167	0.36752	B	.;.	.;.	0.096276	0.04987	1.547	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.748000	0.04924	-10.414000	0.00704	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1053	2908.01	762	chr7	100953083	.	C	A	2908.01	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.50;DP=14857;ExcessHet=0.6776;FS=9.262;InbreedingCoeff=-0.1489;MLEAC=4;MLEAF=0.105;MQ=57.48;MQRankSum=-3.473e+00;QD=1.05;ReadPosRankSum=-3.709e+00;SOR=2.039	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:856,0:856:99:.:.:0,120,1800	15	0	4	2
chr7	100953109	100953109	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1330T:p.P444S,	.	.	467	1032	22	1	0	24	0.0114943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.804e-06	0.0001	7.99e-06	0	1.517e-05	1.01e-06	2.8e-07	6.3e-07	2.4e-07	0	0	0	0	0	0	3.77e-06	0	1.517e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.24	0.24406	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.03956	.	.	.	.	.	.	.	0.07014501	0.10163	T	.	.	.	.	.	.	.	.	.	0.04546856812336578	0.04490	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.427957	0.11563	T	.	.	.	.	.	.	.	.	-5.055	0.37431	T	.	.	0.134	0.29116	B	.;.	.;.	0.519423	0.08885	5.662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.170000	0.03227	-14.841000	0.00384	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	106.98	709	chr7	100953109	.	C	T	106.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=6.18;DP=13622;ExcessHet=0.0000;FS=8.230;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.78;MQRankSum=-7.354e+00;QD=0.14;ReadPosRankSum=-1.384e+00;SOR=2.154	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:790,0:790:99:.:.:0,120,1800	20	0	1	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	25169.59	570	chr7	100953156	.	C	T,*	25169.59	.	AC=6,16;AF=0.143,0.381;AN=42;BaseQRankSum=6.06;DP=11437;ExcessHet=43.6797;FS=8.756;InbreedingCoeff=-0.9091;MLEAC=6,16;MLEAF=0.143,0.381;MQ=57.66;MQRankSum=-1.630e+01;QD=2.22;ReadPosRankSum=-4.630e-01;SOR=1.261	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:445,69,119:633:99:0|1:100953112_T_A:3657,2099,20577,0,15788,18327:100953112	0	0	5	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	1141.98	562	chr7	100953158	.	G	*,T	1141.98	.	AC=18,2;AF=0.429,0.048;AN=42;BaseQRankSum=5.93;DP=11248;ExcessHet=43.6797;FS=14.318;InbreedingCoeff=-0.9091;MLEAC=18,2;MLEAF=0.429,0.048;MQ=57.68;MQRankSum=-1.628e+01;QD=0.11;ReadPosRankSum=-5.200e-01;SOR=1.607	GT:AD:DP:GQ:PL	0/1:441,114,49:619:99:3459,0,18174,2729,16456,21093	1	0	18	0
chr7	100953225	100953225	G	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	2681.5	334	chr7	100953225	.	G	A,*	2681.5	.	AC=9,3;AF=0.265,0.088;AN=34;BaseQRankSum=4.49;DP=8651;ExcessHet=9.6308;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=10,3;MLEAF=0.294,0.088;MQ=58.08;MQRankSum=-1.903e+01;QD=0.52;ReadPosRankSum=-5.501e+00;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:419,30,33:482:99:.:.:151,196,18211,0,16274,17289	5	0	9	4
chr7	100953313	100953313	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1534A:p.P512T,	.	.	832	688	2	0	0	2	0.00145138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs967061375	0.0005	0.0005	0.0004	0.0006	0.0045	0.0004	0.0004	0.0038	0.0035	0	0	0.0025	0	0	0.0006	9.908e-05	0.0004	0.0045	0.0002	0.0011	0.0002	0.0003	0.0036	0.0002	0.0001	0.0023	0.0019	2.486e-05	0	6.76e-05	0.0026	0	0	0	5.983e-05	0	0.0036	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.00142	.	.	.	.	.	.	.	0.019521058	0.00437	T	.	.	.	.	.	.	.	.	.	0.026023660895657615	0.02553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.331367	0.06940	T	.	.	.	.	.	.	.	.	-5.784	0.44435	T	.	.	0.116	0.23395	B	.;.	.;.	-0.922023	0.00890	0.032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.168000	0.09914	-9.533000	0.00808	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4758.98	451	chr7	100953313	.	C	A	4758.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.908;DP=10605;ExcessHet=0.0000;FS=5.238;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.72;MQRankSum=7.22;QD=8.44;ReadPosRankSum=0.062;SOR=0.866	GT:AD:DP:GQ:PL	0/0:619,0:619:99:0,120,1800	20	0	1	0
chr7	100953365	100953366	TC	-	exonic	MUC3A	.	frameshift deletion	MUC3A:NM_005960:exon2:c.1586_1587del:p.F529Sfs*38,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.645e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	3.383e-05	0.0049	3.299e-05	3.471e-05	6.272e-05	1.09e-05	6.33e-06	1.039e-05	3.88e-06	6.272e-05	0	0	0	0	0.0001	0	1.912e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	147.94	574	chr7	100953364	.	TTC	T	147.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=12544;ExcessHet=0.0000;FS=16.400;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.48;MQRankSum=-9.971e+00;QD=0.26;ReadPosRankSum=-1.424e+00;SOR=3.221	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:734,0:734:99:.:.:0,120,1800	20	0	1	0
chr7	100953371	100953371	C	0	exonic	MUC3A	.	.	.	.	.	991	251	197	25	58	305	0.329773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	122869.23	574	chr7	100953371	.	C	A,*	122869.23	.	AC=20,2;AF=0.476,0.048;AN=42;BaseQRankSum=-2.807e+00;DP=13314;ExcessHet=43.6797;FS=5.958;InbreedingCoeff=-0.9091;MLEAC=20,2;MLEAF=0.476,0.048;MQ=57.56;MQRankSum=-1.348e+01;QD=10.82;ReadPosRankSum=0.229;SOR=1.110	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:416,229,0:767:99:.:.:8711,0,16741,9963,17468,27431	0	0	19	0
chr7	100953490	100953490	G	0	exonic	MUC3A	.	.	.	.	.	745	492	219	17	49	302	0.204527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	36352.82	833	chr7	100953490	.	G	T,*	36352.82	.	AC=17,2;AF=0.405,0.048;AN=42;BaseQRankSum=-2.232e+00;DP=18586;ExcessHet=36.0830;FS=0.000;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.405,0.048;MQ=57.38;MQRankSum=-1.467e+01;QD=2.05;ReadPosRankSum=5.58;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:790,122,90:1002:99:0|1:100953486_C_A:2725,0,32771,1326,29355,34215:100953486	2	0	17	0
chr7	100953494	100953494	C	0	exonic	MUC3A	.	.	.	.	.	798	546	139	16	23	194	0.135392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	16936.68	834	chr7	100953494	.	C	A,*	16936.68	.	AC=10,4;AF=0.238,0.095;AN=42;BaseQRankSum=-9.240e-01;DP=18602;ExcessHet=14.4320;FS=0.762;InbreedingCoeff=-0.5000;MLEAC=10,4;MLEAF=0.238,0.095;MQ=57.31;MQRankSum=-8.273e+00;QD=1.27;ReadPosRankSum=-1.446e+00;SOR=0.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:913,0,90:1003:99:.:.:1004,3751,41705,0,38024,38444	7	0	10	0
chr7	100953545	100953545	-	CATTGTAGCAACGACAGGCACAGTTAAGACCACCGTCACCAGCTCCACAGCCACATTCCGGGAGACCACCA	exonic	MUC3A	.	frameshift insertion	MUC3A:NM_005960:exon2:c.1766_1767insCATTGTAGCAACGACAGGCACAGTTAAGACCACCGTCACCAGCTCCACAGCCACATTCCGGGAGACCACCA:p.T590Ifs*64,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5924.07	892	chr7	100953545	.	C	CCATTGTAGCAACGACAGGCACAGTTAAGACCACCGTCACCAGCTCCACAGCCACATTCCGGGAGACCACCA	5924.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.280e+00;DP=19290;ExcessHet=0.1072;FS=4.031;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=56.16;MQRankSum=-6.510e-01;QD=2.85;ReadPosRankSum=-4.457e+00;SOR=1.108	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1046,0:1046:99:.:.:0,120,1800	19	0	2	0
chr7	100953548	100953548	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1769T:p.T590I,	.	.	874	413	160	24	51	259	0.201161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1357514460	0.0006	0.0062	0.0004	0.0007	0.0021	0.0005	0.0005	0.0013	0.0010	0.0003	0.0006	0.0002	4.417e-05	0.0005	0.0006	0.0006	0.0004	0.0021	2.746e-05	0.0091	1.343e-05	4.212e-05	0.0004	8.42e-06	5.33e-06	7.232e-05	3.008e-05	0	0	6.811e-05	0	0.0004	9.921e-05	0	0	0	0	.	.	.	0.033	0.53072	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.01421	.	.	.	.	.	.	.	0.117088854	0.22104	T	.	.	.	.	.	.	.	.	.	0.03503252016017476	0.03450	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347765	0.07665	T	.	.	.	.	.	.	.	.	-7.218	0.55610	T	.	.	0.207	0.43352	B	.;.	.;.	1.622838	0.20726	14.88	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.220000	0.32095	0.001000	0.13291	0.470000	0.21925	0.001000	0.13787	0.000000	0.08366	0.044000	0.14658	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4286	33287.25	909	chr7	100953548	.	C	G,T	33287.25	.	AC=15,3;AF=0.357,0.071;AN=42;BaseQRankSum=1.28;DP=19526;ExcessHet=30.0624;FS=0.819;InbreedingCoeff=-0.7477;MLEAC=15,3;MLEAF=0.357,0.071;MQ=55.79;MQRankSum=-8.386e+00;QD=1.94;ReadPosRankSum=3.82;SOR=0.845	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:956,9,110:1075:99:.:.:1741,4241,44356,0,39764,39811	3	0	15	0
chr7	100953550	100953550	-	ACTTCTACAACTGACATCTCCACAGAATCTCTCATGA	exonic	MUC3A	.	stopgain	MUC3A:NM_005960:exon2:c.1771_1772insACTTCTACAACTGACATCTCCACAGAATCTCTCATGA:p.A591Dfs*5,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	816.07	879	chr7	100953550	.	G	GACTTCTACAACTGACATCTCCACAGAATCTCTCATGA	816.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.594e+00;DP=19057;ExcessHet=0.1072;FS=7.780;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=56.09;MQRankSum=1.03;QD=0.42;ReadPosRankSum=-9.430e-01;SOR=1.916	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1044,0:1044:99:.:.:0,120,1800	19	0	2	0
chr7	100953580	100953580	T	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.T1801G:p.F601V,	.	.	771	720	29	2	0	33	0.0224033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0024	0.0001	0.0001	0.0004	9.336e-05	8.193e-05	0.0001	6.845e-05	0.0001	0.0003	0.0001	0	0.0002	0	0.0001	0.0001	0.0004	1.347e-05	0.0081	0	2.758e-05	0.0002	2.24e-06	8.4e-07	.	.	0	0	0	0	0.0002	0	0.0036	0	0	0	.	.	.	0.407	0.14818	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.01498	.	.	.	.	.	.	.	0.07435861	0.11356	T	.	.	.	.	.	.	.	.	.	0.03639408987963097	0.03586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266973	0.04402	T	.	.	.	.	.	.	.	.	-6.594	0.51007	T	.	.	0.156	0.34514	B	.;.	.;.	0.100440	0.05021	1.572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.522000	0.06323	-4.554000	0.02098	-0.287000	0.06331	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05	3166.8	908	chr7	100953580	.	T	G	3166.8	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-5.028e+00;DP=19164;ExcessHet=0.1072;FS=3.283;InbreedingCoeff=-0.0633;MLEAC=2;MLEAF=0.050;MQ=55.84;MQRankSum=1.36;QD=1.45;ReadPosRankSum=3.77;SOR=1.264	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:987,98:1085:99:0|1:100953515_C_T:1144,0,41149:100953515	18	0	2	1
chr7	100953716	100953716	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1937T:p.S646F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1454143522	4.135e-05	0.0006	3.977e-05	4.281e-05	0.0004	2.405e-05	1.875e-05	0.0001	8.058e-05	0	0	0	3.856e-05	7.857e-05	0	1.017e-05	0.0002	0.0004	0.0019	0.0049	0.0017	0.0021	0.0268	0.0017	0.0017	0.0231	0.0216	0.0010	0	0.0028	0	0.0268	0.0018	0	0.0003	0.0033	0.0065	.	.	.	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.06059	.	.	.	.	.	.	.	0.0052519143	0.00115	T	.	.	.	.	.	.	.	.	.	0.043221190383091725	0.04267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.532447	0.17709	T	.	.	.	.	.	.	.	.	-7.134	0.55006	T	.	.	0.272	0.50627	B	.;.	.;.	1.135763	0.15225	11.69	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.562000	0.06041	-11.604000	0.00590	0.524000	0.24156	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	11569.11	634	chr7	100953716	.	C	T	11569.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.31;DP=15550;ExcessHet=0.1072;FS=2.041;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.28;MQRankSum=1.97;QD=7.50;ReadPosRankSum=-2.230e-01;SOR=0.870	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:933,0:933:99:.:.:0,120,1800	19	0	2	0
chr7	100954094	100954094	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A2315G:p.H772R,	.	.	808	657	57	0	0	57	0.0415755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs933695519	0.0094	0.0084	0.0088	0.0099	0.0595	0.0091	0.0090	0.0528	0.0502	0.0016	0.0072	0.0349	3.479e-05	0.0009	0.0595	0.0082	0.0130	0.0215	0.0083	0.0088	0.0080	0.0086	0.0316	0.0079	0.0078	0.0275	0.0259	0.0016	0.0787	0.0127	0.0336	0.0004	0.0009	0.0479	0.0089	0.0152	0.0316	.	.	.	0.213	0.27056	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.03613	.	.	.	.	.	.	.	0.0039747953	0.00077	T	.	.	.	.	.	.	.	.	.	0.02810929783616011	0.02760	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304669	0.05813	T	.	.	.	.	.	.	.	.	-6.03	0.46530	T	.	.	0.163	0.35931	B	.;.	.;.	0.036165	0.04538	1.230	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.370000	0.02682	-8.607000	0.00942	-0.344000	0.05652	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	5719.11	352	chr7	100954094	.	A	G	5719.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.221e+00;DP=7394;ExcessHet=0.1072;FS=5.124;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=55.74;MQRankSum=8.36;QD=8.16;ReadPosRankSum=0.749;SOR=0.750	GT:AD:DP:GQ:PL	0/0:397,0:397:99:0,120,1800	19	0	2	0
chr7	100954158	100954158	C	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C2379G:p.I793M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1293765468	2.331e-06	6.36e-06	0	4.289e-06	.	0	0	.	.	0	0	0	0	3.334e-05	0	0	0	0	0.0005	0.0039	0.0005	0.0005	0.0017	0.0003	0.0003	0.0006	0.0004	0.0003	0	0.0012	0	0.0011	0.0003	0	0.0004	0	0.0017	.	.	.	0.046	0.49120	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.08646	.	.	.	.	.	.	.	0.044038594	0.03318	T	.	.	.	.	.	.	.	.	.	0.018937706257390052	0.01847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244176	0.03564	T	.	.	.	.	.	.	.	.	-5.36	0.40533	T	.	.	0.125	0.26263	B	.;.	.;.	0.590388	0.09587	6.363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.012000	0.12637	-7.416000	0.01161	0.447000	0.21209	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	643.11	375	chr7	100954158	.	C	G	643.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.213e+00;DP=8690;ExcessHet=0.1072;FS=1.024;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=54.39;MQRankSum=-9.995e+00;QD=0.63;ReadPosRankSum=0.168;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:547,0:547:99:.:.:0,120,1800	19	0	2	0
chr7	100954168	100954168	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C2389T:p.P797S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1405297788	4.764e-06	3.975e-05	0	8.796e-06	3.85e-06	7.9e-07	3e-07	.	.	0	0	0	0	3.373e-05	0	3.85e-06	0	0	0.0008	0.0049	0.0006	0.0009	0.0016	0.0006	0.0005	0.0007	0.0005	0.0005	0.0036	0.0016	0.0019	0.0014	0.0003	0	0.0006	0	0.0014	.	.	.	0.251	0.23707	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.02861	.	.	.	.	.	.	.	0.049508095	0.04550	T	.	.	.	.	.	.	.	.	.	0.059614147182007055	0.05901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39586	0.09952	T	.	.	.	.	.	.	.	.	-3.669	0.18861	T	.	.	0.158	0.34862	B	.;.	.;.	-0.053016	0.03930	0.872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.780000	0.01872	-4.039000	0.02378	-0.380000	0.05395	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	616.11	375	chr7	100954168	.	C	T	616.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.59;DP=8699;ExcessHet=0.1072;FS=1.028;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=54.48;MQRankSum=-1.006e+01;QD=0.60;ReadPosRankSum=-1.780e-01;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:547,0:547:99:.:.:0,120,1800	19	0	2	0
chr7	100954171	100954176	ACTACG	-	exonic	MUC3A	.	nonframeshift deletion	MUC3A:NM_005960:exon2:c.2392_2397del:p.T798_T799del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1173923186	2.375e-06	6.36e-06	0	4.386e-06	.	0	0	.	.	0	0	0	0	3.366e-05	0	0	0	0	0.0005	0.0040	0.0004	0.0005	0.0013	0.0003	0.0003	0.0006	0.0004	0.0003	0	0.0013	0.0007	0.0012	0.0003	0	0.0003	0	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	372.07	375	chr7	100954170	.	CACTACG	C	372.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.800e-01;DP=8735;ExcessHet=0.1072;FS=2.364;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=54.58;MQRankSum=-1.008e+01;QD=0.35;ReadPosRankSum=-1.200e-02;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:547,0:547:99:.:.:0,120,1800	19	0	2	0
chr7	100954873	100954873	G	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.G3094A:p.A1032T,	.	.	771	738	8	5	0	18	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1410727845	0.0001	0.0027	0.0001	0.0001	0.0007	0.0001	8.922e-05	0.0004	0.0003	0	0	0	0	0.0001	0	0.0001	0.0002	0.0007	0.0006	0.0093	0.0005	0.0008	0.0016	0.0005	0.0004	0.0006	0.0005	0.0005	0	0.0013	0.0008	0.0016	0.0005	0	0.0004	0.0013	0.0010	.	.	.	0.727	0.05238	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00252	.	.	.	.	.	.	.	0.038853675	0.02333	T	.	.	.	.	.	.	.	.	.	0.013919596383098391	0.01348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327667	0.06803	T	.	.	.	.	.	.	.	.	-4.693	0.33319	T	.	.	0.093	0.14015	B	.;.	.;.	-0.940757	0.00860	0.030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.046000	0.03635	-3.144000	0.03024	-1.059000	0.01621	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1541.07	411	chr7	100954873	.	G	A	1541.07	.	AC=2;AF=0.063;AN=32;BaseQRankSum=3.28;DP=9000;ExcessHet=0.1072;FS=11.692;InbreedingCoeff=-0.1200;MLEAC=2;MLEAF=0.063;MQ=58.47;MQRankSum=-1.038e+01;QD=1.77;ReadPosRankSum=-1.165e+00;SOR=1.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:474,0:474:99:.:.:0,120,1800	14	0	2	5
chr7	100955012	100955012	G	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.G3233A:p.R1078K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.317e-06	0.0001	4.898e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	3.939e-05	0	8.995e-06	0.0019	0	1.83e-05	0.0003	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	.	.	.	0.126	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.01740	.	.	.	.	.	.	.	0.07244828	0.10815	T	.	.	.	.	.	.	.	.	.	0.042076156409536575	0.04152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251175	0.03802	T	.	.	.	.	.	.	.	.	-6.363	0.49220	T	.	.	0.154	0.34049	B	.;.	.;.	0.226431	0.06082	2.525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.247000	0.03004	-9.307000	0.00838	-0.269000	0.06763	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	24713.07	719	chr7	100955012	.	G	C,A	24713.07	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-1.062e+00;DP=13307;ExcessHet=17.4423;FS=13.525;InbreedingCoeff=-0.5721;MLEAC=14,1;MLEAF=0.333,0.024;MQ=56.37;MQRankSum=-1.052e+01;QD=2.42;ReadPosRankSum=0.662;SOR=2.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:732,0,0:732:99:.:.:0,120,1800,120,1800,1800	6	0	14	0
chr7	100955170	100955170	G	0	exonic	MUC3A	.	.	.	.	.	487	947	75	0	13	88	0.0380904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	250.36	306	chr7	100955170	.	G	T,*	250.36	.	AC=3,4;AF=0.075,0.100;AN=40;BaseQRankSum=0.637;DP=7032;ExcessHet=2.5830;FS=10.762;InbreedingCoeff=-0.2103;MLEAC=2,4;MLEAF=0.050,0.100;MQ=58.89;MQRankSum=-1.674e+01;QD=0.10;ReadPosRankSum=-9.590e-01;SOR=1.815	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:394,7,32:433:99:.:.:158,1050,17573,0,16250,16448	13	0	3	1
chr7	100955586	100955586	T	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	47603.67	377	chr7	100955586	.	T	A,*	47603.67	.	AC=14,3;AF=0.350,0.075;AN=40;BaseQRankSum=-3.380e+00;DP=9878;ExcessHet=25.1139;FS=6.754;InbreedingCoeff=-0.7143;MLEAC=14,3;MLEAF=0.350,0.075;MQ=57.66;MQRankSum=-1.812e+01;QD=5.71;ReadPosRankSum=-7.510e-01;SOR=1.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:386,145,0:531:99:0|1:100955555_C_T:4927,0,15772,6089,16208,22297:100955555	3	0	14	1
chr7	100955587	100955587	G	0	exonic	MUC3A	.	.	.	.	.	948	292	244	32	6	314	0.345291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	46737.11	377	chr7	100955587	.	G	C,*	46737.11	.	AC=14,3;AF=0.350,0.075;AN=40;BaseQRankSum=0.104;DP=9885;ExcessHet=25.1139;FS=6.502;InbreedingCoeff=-0.7143;MLEAC=14,3;MLEAF=0.350,0.075;MQ=57.65;MQRankSum=-1.817e+01;QD=5.55;ReadPosRankSum=-6.860e-01;SOR=1.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:386,143,0:529:99:0|1:100955555_C_T:4843,0,15778,6005,16208,22213:100955555	3	0	14	1
chr7	100955917	100955917	G	0	exonic	MUC3A	.	.	.	.	.	766	657	81	4	14	103	0.0634355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	30532.88	499	chr7	100955917	.	G	C,*	30532.88	.	AC=10,3;AF=0.278,0.083;AN=36;BaseQRankSum=-1.985e+00;DP=19448;ExcessHet=11.8493;FS=4.100;InbreedingCoeff=-0.5273;MLEAC=11,3;MLEAF=0.306,0.083;MQ=56.33;MQRankSum=-1.229e+01;QD=2.43;ReadPosRankSum=2.52;SOR=1.144	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:945,187,0:1132:99:0|1:100955912_C_T:4591,0,39123,7336,39672,46973:100955912	5	0	10	3
chr7	100955959	100955959	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A4180G:p.T1394A,	.	.	768	680	56	1	17	75	0.0409027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175400681	7.904e-05	0.0004	3.921e-05	0.0001	0.0008	5.602e-05	4.861e-05	0.0005	0.0004	0	5.076e-05	0.0003	0	0	0	2.158e-05	0.0001	0.0008	0.0006	0.0032	0.0006	0.0006	0.0031	0.0005	0.0005	0.0019	0.0015	0.0002	0.0025	0.0014	0.0009	0	9.978e-05	0.0040	0.0006	0.0020	0.0031	.	.	.	0.216	0.26306	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.03069	.	.	.	.	.	.	.	0.11744994	0.22181	T	.	.	.	.	.	.	.	.	.	0.03036875277365848	0.02985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.260974	0.04439	T	.	.	.	.	.	.	.	.	-7.243	0.55789	T	.	.	0.110	0.21125	B	.;.	.;.	0.622094	0.09905	6.665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465000	0.21715	-2.074000	0.04252	0.688000	0.82842	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4048	23255.17	557	chr7	100955959	.	ACC	A,GCC	23255.17	.	AC=15,2;AF=0.357,0.048;AN=42;BaseQRankSum=3.10;DP=16785;ExcessHet=25.1139;FS=4.174;InbreedingCoeff=-0.6800;MLEAC=15,2;MLEAF=0.357,0.048;MQ=57.02;MQRankSum=-1.169e+01;QD=1.66;ReadPosRankSum=-1.368e+00;SOR=1.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:813,136,0:949:99:0|1:100955908_C_T:3263,0,33728,5711,34138,39848:100955908	4	0	15	0
chr7	100956002	100956002	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C4223A:p.T1408K,	.	.	737	766	17	2	0	21	0.0135222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1031611977	8.417e-05	0.0007	8.521e-05	8.322e-05	0.0004	6e-05	5.198e-05	0.0002	0.0001	0	5.954e-05	0	0	7.546e-05	0	8.937e-05	4.724e-05	0.0004	0.0005	0.0088	0.0005	0.0006	0.0019	0.0004	0.0004	0.0010	0.0007	0.0001	0	0.0006	0.0003	0	0.0013	0	0.0006	0.0010	0.0019	.	.	.	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.06720	.	.	.	.	.	.	.	0.055023044	0.05949	T	.	.	.	.	.	.	.	.	.	0.055842908081126706	0.05525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275372	0.05417	T	.	.	.	.	.	.	.	.	-8.63	0.65287	D	.	.	0.197	0.41947	B	.;.	.;.	0.269045	0.06469	2.944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.126000	0.10539	-6.448000	0.01396	-0.256000	0.07045	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1279.11	487	chr7	100956002	.	C	A	1279.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.107e+00;DP=12806;ExcessHet=0.1072;FS=1.824;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=57.32;MQRankSum=-9.909e+00;QD=1.02;ReadPosRankSum=-1.440e-01;SOR=0.936	GT:AD:DP:GQ:PL	0/1:576,96:672:99:1091,0,23376	19	0	2	0
chr7	100956031	100956031	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A4252G:p.S1418G,	.	.	791	727	4	0	0	4	0.00274348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1194663862	1.898e-05	0.0003	1.973e-05	1.828e-05	0.0001	7.82e-06	5.48e-06	4.06e-06	2.13e-06	0.0001	0	9.628e-05	0	0	0	1.525e-05	0	7.585e-05	9.487e-05	0.0099	8.586e-05	0.0001	0.0002	5.583e-05	4.367e-05	0.0001	9.396e-05	0.0002	0	7.182e-05	0	0	0.0002	0	1.642e-05	0	0	.	.	.	0.232	0.24987	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.02088	.	.	.	.	.	.	.	0.085339725	0.14398	T	.	.	.	.	.	.	.	.	.	0.01366575490483623	0.01324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230377	0.03527	T	.	.	.	.	.	.	.	.	-9.094	0.68299	D	.	.	0.142	0.31330	B	.;.	.;.	0.746498	0.11161	7.800	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.081000	0.11285	-2.631000	0.03528	0.688000	0.82842	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	677.33	463	chr7	100956031	.	A	G	677.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=4.14;DP=11621;ExcessHet=0.0000;FS=11.490;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=59.55;MQRankSum=-6.467e+00;QD=0.83;ReadPosRankSum=-5.558e+00;SOR=2.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:846,0:846:99:.:.:0,120,1800	19	0	1	1
chr7	100956316	100956316	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A4537G:p.T1513A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1467913808	2.408e-05	0.0002	2.646e-05	2.21e-05	0.0003	1.217e-05	9.87e-06	8.179e-05	4.469e-05	0.0003	0	0	0.0002	3.402e-05	0	0	4.139e-05	0	0.0004	0.0008	0.0003	0.0005	0.0027	0.0003	0.0003	0.0016	0.0012	0.0011	0	0.0003	0	0.0027	9.502e-05	0	4.425e-05	0.0005	0.0004	.	.	.	0.052	0.47581	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.02462	.	.	.	.	.	.	.	0.045228183	0.03569	T	.	.	.	.	.	.	.	.	.	0.019659941930852718	0.01918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250275	0.05031	T	.	.	.	.	.	.	.	.	-6.989	0.53954	T	.	.	0.137	0.29833	B	.;.	.;.	1.194535	0.15859	12.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024000	0.13447	-1.846000	0.04621	-0.135000	0.12811	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	1235.33	306	chr7	100956316	.	A	G	1235.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.228;DP=7157;ExcessHet=0.0000;FS=1.456;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=55.32;MQRankSum=-9.038e+00;QD=3.06;ReadPosRankSum=-5.530e-01;SOR=0.576	GT:AD:DP:GQ:PL	0/0:323,0:323:99:0,120,1800	19	0	1	1
chr7	100956674	100956674	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C4895T:p.S1632F,	.	.	828	686	7	1	0	9	0.00651702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs900396039	0.0051	0.0029	0.0051	0.0051	0.0093	0.0049	0.0048	0.0055	0.0051	0.0022	0.0021	0.0194	0	0.0021	0.0093	0.0055	0.0054	0.0055	0.0026	0.0042	0.0030	0.0022	0.0046	0.0024	0.0023	0.0034	0.0032	0.0008	0	0.0018	0.0123	0	0.0004	0	0.0037	0.0038	0.0046	.	.	.	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.09066	.	.	.	.	.	.	.	0.011351138	0.00249	T	.	.	.	.	.	.	.	.	.	0.024629798100384948	0.02413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39686	0.10010	T	.	.	.	.	.	.	.	.	-7.929	0.63552	D	.	.	0.331	0.55299	B	.;.	.;.	1.745033	0.22204	15.52	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.460000	0.21635	-5.893000	0.01561	0.447000	0.21209	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	5412.11	585	chr7	100956674	.	C	T	5412.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.67;DP=13223;ExcessHet=0.1072;FS=2.276;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=57.90;MQRankSum=5.95;QD=3.68;ReadPosRankSum=0.196;SOR=0.503	GT:AD:DP:GQ:PL	0/1:588,133:721:99:2449,0,21941	19	0	2	0
chr7	100957412	100957412	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C5633A:p.S1878Y,	.	.	468	1046	7	1	0	9	0.00428367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1010492342	0.0042	0.0037	0.0023	0.0060	0.0562	0.0041	0.0041	0.0545	0.0539	0.0002	0	0	8.263e-05	0	0.0014	9.114e-05	0.0031	0.0562	0.0031	0.0033	0.0015	0.0047	0.0958	0.0028	0.0028	0.0885	0.0857	0.0002	0	6.531e-05	0	0.0002	0	0	4.409e-05	0.0005	0.0958	.	.	.	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.10911	.	.	.	.	.	.	.	0.004273385	0.00086	T	.	.	.	.	.	.	.	.	.	0.008749316577987172	0.00838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348865	0.08742	T	.	.	.	.	.	.	.	.	-7.98	0.60934	D	.	.	0.212	0.44069	B	.;.	.;.	0.930575	0.13055	9.562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.557000	0.06076	-0.848000	0.07190	0.431000	0.20936	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	808	0.43318	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	5772.98	563	chr7	100957412	.	C	A	5772.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.705e+00;DP=11429;ExcessHet=0.0000;FS=0.551;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.26;MQRankSum=3.36;QD=11.88;ReadPosRankSum=-7.390e-01;SOR=0.643	GT:AD:DP:GQ:PL	0/0:659,0:659:99:0,120,1800	20	0	1	0
chr7	100958085	100958100	CACCTCACACAGTACT	-	exonic	MUC3A	.	frameshift deletion	MUC3A:NM_005960:exon2:c.6306_6321del:p.T2103Pfs*57,	.	.	294	1173	54	0	1	55	0.0225	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0012	0.0008	0.0012	0.0020	0.0010	0.0010	0.0017	0.0015	0.0010	0.0017	0.0017	0.0020	0.0003	0.0014	0.0010	0.0014	0.0006	0.0045	0.0049	0.0039	0.0053	0.0065	0.0041	0.0039	0.0040	0.0037	0.0048	0	0.0055	0.0053	0.0054	0.0041	0	0.0040	0.0073	0.0065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	414.18	1744	chr7	100958084	.	CCACCTCACACAGTACT	C	414.18	.	AC=1;AF=0.167;AN=6;BaseQRankSum=0.422;DP=30515;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.3125;MLEAC=3;MLEAF=0.500;MQ=49.75;MQRankSum=-1.451e+00;QD=34.51;ReadPosRankSum=-9.800e-01;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:159,0:159:99:.:.:0,120,1800	2	0	1	18
chr7	100958105	100958139	GCTTCACTTCCTCAATCACCACCTCTGAGATGCCC	-	exonic	MUC3A	.	frameshift deletion	MUC3A:NM_005960:exon2:c.6326_6360del:p.S2109Ifs*15,	.	.	308	1147	65	2	0	69	0.0292002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0023	0.0021	0.0024	0.0040	0.0022	0.0022	0.0035	0.0033	0.0025	0.0040	0.0030	0.0024	0.0006	0.0020	0.0023	0.0025	0.0011	0.0023	0.0025	0.0021	0.0025	0.0037	0.0021	0.0020	0.0024	0.0022	0.0027	0	0.0026	0.0020	0.0037	0.0020	0	0.0019	0.0033	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	431.94	1754	chr7	100958104	.	AGCTTCACTTCCTCAATCACCACCTCTGAGATGCCC	A	431.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.728;DP=29809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=49.93;MQRankSum=-1.866e+00;QD=30.85;ReadPosRankSum=-2.300e-01;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:159,0:159:99:.:.:0,120,1800	20	0	1	0
chr7	100958135	100958135	T	0	exonic	MUC3A	.	.	.	.	.	80	0	58	87	1	233	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	24112.57	1331	chr7	100958135	.	T	C,*	24112.57	.	AC=11,1;AF=0.611,0.056;AN=18;BaseQRankSum=-1.492e+00;DP=16684;ExcessHet=5.3821;FS=1.190;InbreedingCoeff=0.0278;MLEAC=20,2;MLEAF=1.00,0.111;MQ=59.22;MQRankSum=-1.577e+00;QD=17.65;ReadPosRankSum=1.06;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:102,111,0:213:99:.:.:2616,0,2376,2919,2708,5627	0	3	5	12
chr7	100958157	100958207	CTTCACTTCTTCGATCACCACCACTGAGAACGCCACACACAGTACTCCCAA	-	exonic	MUC3A	.	nonframeshift deletion	MUC3A:NM_005960:exon2:c.6378_6428del:p.N2136_E2152del,	.	.	450	1011	61	0	0	61	0.0292847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0019	0.0020	0.0025	0.0040	0.0022	0.0021	0.0035	0.0033	0.0022	0.0040	0.0028	0.0023	0.0008	0.0024	0.0023	0.0027	0.0013	0.0079	0.0076	0.0074	0.0085	0.0115	0.0072	0.0069	0.0097	0.0090	0.0115	0	0.0093	0.0051	0.0113	0.0097	0	0.0056	0.0145	0.0108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	428.94	1446	chr7	100958156	.	GCTTCACTTCTTCGATCACCACCACTGAGAACGCCACACACAGTACTCCCAA	G	428.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.867;DP=27131;ExcessHet=0.0000;FS=6.803;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=48.00;MQRankSum=-6.380e-01;QD=30.64;ReadPosRankSum=1.39;SOR=0.353	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1579,0:1579:99:.:.:0,120,1800	20	0	1	0
chr7	100958283	100958283	G	0	exonic	MUC3A	.	.	.	.	.	1044	288	14	0	176	190	0.0237288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	678.18	690	chr7	100958283	.	G	T,*	678.18	.	AC=1,1;AF=0.250,0.250;AN=4;BaseQRankSum=-2.300e-02;DP=12150;ExcessHet=1.7609;FS=94.798;InbreedingCoeff=0.2063;MLEAC=4,4;MLEAF=1.00,1.00;MQ=51.38;MQRankSum=1.44;QD=3.75;ReadPosRankSum=1.21;SOR=3.897	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:656,0,0:656:0:.:.:0,0,0,0,0,0	0	0	1	19
chr7	100958296	100958326	CACAGGTGGGGGACCACCGAGACCACATCCT	0	exonic	MUC3A	.	.	.	.	.	1113	167	100	11	131	253	0.267544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1430.05	690	chr7	100958296	.	CACAGGTGGGGGACCACCGAGACCACATCCT	C,*	1430.05	.	AC=1,1;AF=0.250,0.250;AN=4;BaseQRankSum=3.59;DP=12197;ExcessHet=1.7609;FS=29.268;InbreedingCoeff=0.2063;MLEAC=4,4;MLEAF=1.00,1.00;MQ=53.84;MQRankSum=-4.130e+00;QD=5.88;ReadPosRankSum=-4.868e+00;SOR=0.848	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:656,0,0:656:0:.:.:0,0,0,0,0,0	0	0	1	19
chr7	100958300	100958300	-	TACTACCA	exonic	MUC3A	.	frameshift insertion	MUC3A:NM_005960:exon2:c.6521_6522insTACTACCA:p.R2174Sfs*123,	.	.	1224	42	0	12	244	268	0.222222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0005	0.0025	0.0022	0.0051	0.0019	0.0018	0.0017	0.0015	0.0009	0.0023	0.0021	0.0044	0.0077	0.0051	0.0021	0.0016	0.0015	0.0031	0.0097	0.0041	0.0019	0.0077	0.0018	0.0014	0.0022	0.0016	0.0009	0	0.0077	0.0093	0	0	0	0.0044	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7367.84	690	chr7	100958300	.	G	GTACTACCA,GTACTCCCA,*	7367.84	.	AC=1,1,2;AF=0.167,0.167,0.333;AN=6;BaseQRankSum=3.93;DP=11684;ExcessHet=0.9691;FS=59.982;InbreedingCoeff=0.2364;MLEAC=3,3,7;MLEAF=0.500,0.500,1.00;MQ=46.77;MQRankSum=-1.937e+00;QD=15.48;ReadPosRankSum=-1.200e+00;SOR=1.401	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:656,0,0,0:656:0:.:.:0,0,0,0,0,0,0,0,0,0	0	0	0	18
chr7	100958300	100958300	G	0	exonic	MUC3A	.	.	.	.	.	218	0	0	4	4	12	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7367.84	690	chr7	100958300	.	G	GTACTACCA,GTACTCCCA,*	7367.84	.	AC=1,1,2;AF=0.167,0.167,0.333;AN=6;BaseQRankSum=3.93;DP=11684;ExcessHet=0.9691;FS=59.982;InbreedingCoeff=0.2364;MLEAC=3,3,7;MLEAF=0.500,0.500,1.00;MQ=46.77;MQRankSum=-1.937e+00;QD=15.48;ReadPosRankSum=-1.200e+00;SOR=1.401	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:656,0,0,0:656:0:.:.:0,0,0,0,0,0,0,0,0,0	0	0	0	18
chr7	100958301	100958301	G	0	exonic	MUC3A	.	.	.	.	.	1236	33	0	10	243	263	0.232558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7448.84	690	chr7	100958301	.	G	GCTTCATTTCTTTGATAACCACCTC,GCTTCACTTCTTTGATAACCACCTC,*	7448.84	.	AC=1,1,2;AF=0.167,0.167,0.333;AN=6;DP=11688;ExcessHet=0.9691;FS=59.903;InbreedingCoeff=0.2364;MLEAC=3,3,7;MLEAF=0.500,0.500,1.00;MQ=46.59;MQRankSum=-1.621e+00;QD=15.49;SOR=1.352	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:656,0,0,0:656:0:.:.:0,0,0,0,0,0,0,0,0,0	0	0	0	18
chr7	100958304	100958304	G	0	exonic	MUC3A	.	.	.	.	.	1234	37	0	13	238	264	0.26	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	11635.88	690	chr7	100958304	.	G	A,*	11635.88	.	AC=2,2;AF=0.333,0.333;AN=6;DP=11706;ExcessHet=0.9691;FS=19.376;InbreedingCoeff=0.2364;MLEAC=7,7;MLEAF=1.00,1.00;MQ=49.65;MQRankSum=-3.637e+00;QD=21.91;SOR=0.822	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:656,0,0:656:0:.:.:0,0,0,0,0,0	0	1	0	18
chr7	100958305	100958305	-	ACCCCCTCACACAGTACTCCCAGCTTCACTTCTTCGATGACCACCACCGAGACCCCCTCAAGCAGTACTCCCAGCTTCACTTCTTCAATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCA	exonic	MUC3A	.	frameshift insertion	MUC3A:NM_005960:exon2:c.6526_6527insACCCCCTCACACAGTACTCCCAGCTTCACTTCTTCGATGACCACCACCGAGACCCCCTCAAGCAGTACTCCCAGCTTCACTTCTTCAATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCA:p.G2176Dfs*68,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0200	0.0006	0.0165	0.0233	0.0342	0.0175	0.0165	0.0214	0.0175	0	0.0048	0.0133	0.0028	0.0486	0.0312	0.0187	0.0291	0.0342	0.0021	0.0022	0	0.0042	0.0062	0.0010	0.0007	0.0011	0.0006	0	0	0.0062	0	0	0	0	0.0028	0	0.0055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10738.97	690	chr7	100958305	.	G	GACCCCCTCACACAGTACTCCCAGCTTCACTTCTTCGATGACCACCACCGAGACCCCCTCAAGCAGTACTCCCAGCTTCACTTCTTCAATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCA,GACCCTGTCACACAGTACTCCCAGCTTCACTTCTTCGATGACCACCACCGAGACCCCCTCAAGCAGTACTCCCAGCTTCACTTCTTCAATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCA,*	10738.97	.	AC=1,1,2;AF=0.167,0.167,0.333;AN=6;DP=11701;ExcessHet=0.9691;FS=26.764;InbreedingCoeff=0.2364;MLEAC=3,3,7;MLEAF=0.500,0.500,1.00;MQ=49.69;MQRankSum=-5.520e+00;QD=30.42;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:656,0,0,0:656:0:.:.:0,0,0,0,0,0,0,0,0,0	0	0	0	18
chr7	100958305	100958305	G	0	exonic	MUC3A	.	.	.	.	.	1235	37	1	5	244	255	0.129412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10738.97	690	chr7	100958305	.	G	GACCCCCTCACACAGTACTCCCAGCTTCACTTCTTCGATGACCACCACCGAGACCCCCTCAAGCAGTACTCCCAGCTTCACTTCTTCAATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCA,GACCCTGTCACACAGTACTCCCAGCTTCACTTCTTCGATGACCACCACCGAGACCCCCTCAAGCAGTACTCCCAGCTTCACTTCTTCAATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCA,*	10738.97	.	AC=1,1,2;AF=0.167,0.167,0.333;AN=6;DP=11701;ExcessHet=0.9691;FS=26.764;InbreedingCoeff=0.2364;MLEAC=3,3,7;MLEAF=0.500,0.500,1.00;MQ=49.69;MQRankSum=-5.520e+00;QD=30.42;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:656,0,0,0:656:0:.:.:0,0,0,0,0,0,0,0,0,0	0	0	0	18
chr7	100958481	100958481	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C6702A:p.H2234Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.216e-07	6.095e-06	0	1.799e-06	1.275e-06	0	0	.	.	0	0	0	0	0	0	1.275e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.25438	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.04790	.	.	.	.	.	.	.	0.09720075	0.17489	T	.	.	.	.	.	.	.	.	.	0.004326101621475962	0.00406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243776	0.03556	T	.	.	.	.	.	.	.	.	-7.225	0.55660	T	.	.	0.271	0.50527	B	.;.	.;.	1.445929	0.18663	13.86	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.464000	0.06765	-20.000000	0.00162	0.313000	0.19204	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	808	0.43318	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	31.98	205	chr7	100958481	.	C	A	31.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.321e+00;DP=29526;ExcessHet=0.0000;FS=0.960;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.83;MQRankSum=-4.051e+00;QD=0.14;ReadPosRankSum=-2.660e-01;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:2024,0:2024:99:.:.:0,120,1800	20	0	1	0
chr7	100959239	100959239	C	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C7460G:p.T2487R,	.	.	402	1105	15	0	0	15	0.00674157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	.	.	.	.	.	.	0.729	N	0	N	2.86	T	-0.964	T	0.013	T	0.09	1.026	9.192	-3.46	-0.933	0.115	4.397	0.072	.	.	0.000399361	0.0009	0	8.82e-05	0.0012	0	0.0002	0	0.0052	0.0006727	104	154602	rs199829729	0.0005	0.0005	0.0004	0.0006	0.0046	0.0005	0.0005	0.0042	0.0041	5.975e-05	0	0.0021	0.0010	0	0.0005	0.0002	0.0005	0.0046	0.0003	0.0003	0.0002	0.0003	0.0029	0.0002	0.0002	0.0018	0.0014	4.807e-05	0	6.53e-05	0.0026	0.0002	0	0	0.0002	0	0.0029	.	.	.	0.008	0.69154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.06720	-0.9635	0.38507	T	0.013	0.04938	T	6	0.0033223033	0.00057	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	0.04254950817714387	0.04199	.	.	.	.	.	.	.	.	-0.292981	0.09339	T	-0.658623	0.08360	T	0.0125464564189315	0.00208	T	0.354465	0.09893	T	0.06280327	0.13156	0.06946024	0.14638	0.06280327	0.13155	0.06946024	0.14637	-7.582	0.58185	D	.	.	0.194	0.41387	B	.;.	.;.	0.900237	0.12741	9.261	0.86711192404425053	0.16721	0.02290	0.06594	N	AEFGI	0.068670	0.13557	N	-1.03686950376846	0.07848	0.3659505	-1.23464434807009	0.05363	0.255304	0.999978822832524	0.50053	0.69289	0.55638	0	0.019298	0.00044	3	0.517114	0.09559	2	0.683672	0.66515	0	.	.	1.97	-3.46	0.04465	-1.064000	0.03572	-0.543000	0.08571	0.291000	0.18778	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.397:0.3407:0.2623	4.397	0.10799	808	0.43318	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3815.98	527	chr7	100959239	.	C	G	3815.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=9710;ExcessHet=0.0000;FS=2.721;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.93;MQRankSum=2.08;QD=6.80;ReadPosRankSum=-5.670e-01;SOR=0.675	GT:AD:DP:GQ:PL	0/0:606,0:606:99:0,120,1800	20	0	1	0
chr7	100959782	100959782	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C8003T:p.T2668M,	.	.	407	1114	1	0	0	1	0.000448632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.869	P	.	.	0.723	N	0	N	2.63	T	-1.016	T	0.031	T	0.067	1.437	10.74	0.768	0.685	2.772	7.340	0.094	.	0.0002	0.00119808	0.0001	0	0.0005	0.0006	0	1.647e-05	0	0	0.0001164	18	154602	rs372171366	3.6e-05	3.694e-05	3.032e-05	4.174e-05	0.0005	2.796e-05	2.531e-05	0.0004	0.0003	0	0.0005	3.856e-05	0.0001	0	0.0002	8.102e-06	0.0002	0	0.0002	0.0003	0.0002	0.0003	0.0018	0.0002	0.0001	0.0012	0.0011	7.21e-05	0	0.0018	0	0	0	0	2.939e-05	0.0009	0	.	.	.	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.34767	-1.0156	0.25143	T	0.031	0.13330	T	8	0.0060295165	0.00135	T	.	.	.	.	.	.	.	0.0920862733494	0.08535	0.041419374462878016	0.04086	.	.	0.313324838877	0.12409	T	.	.	.	-0.258955	0.13022	T	-0.609748	0.12004	T	0.0837211602526988	0.10456	T	0.593441	0.21910	T	0.028494544	0.02197	0.07124279	0.15231	0.028494544	0.02196	0.07124279	0.15231	-6.39	0.49432	T	.	.	0.156	0.34536	B	.;.	.;.	2.489776	0.32122	18.95	0.98836141084576001	0.47035	0.07857	0.13849	N	AEFDBI	0.122786	0.23808	N	-0.516351263134405	0.21551	1.14456	-0.747820052415579	0.15776	0.8313783	0.999518445176976	0.40117	0.632932	0.41330	0	0.563428	0.19063	0	0.601832	0.32385	0	0.530356	0.10902	0	.	.	0.768	0.768	0.17633	1.377000	0.33923	0.453000	0.18541	0.549000	0.26987	0.013000	0.18845	0.002000	0.18203	0.013000	0.09966	0.0:0.9999:0.0:1.0E-4	7.340	0.25803	808	0.43318	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2891.98	413	chr7	100959782	.	C	T	2891.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.41;DP=9506;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.74;ReadPosRankSum=0.175;SOR=0.765	GT:AD:DP:GQ:PL	0/0:534,0:534:99:0,120,1800	20	0	1	0
chr7	100960582	100960582	T	0	exonic	MUC3A	.	.	.	.	.	0	9	197	0	20	217	0.916279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	87422.78	564	chr7	100960582	.	T	A,*	87422.78	.	AC=15,6;AF=0.357,0.143;AN=42;BaseQRankSum=0.858;DP=12953;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=15,6;MLEAF=0.357,0.143;MQ=60.00;MQRankSum=0.00;QD=6.90;ReadPosRankSum=0.163;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:426,164,127:717:99:0|1:100960582_T_A:7150,0,17013,858,13924,17871:100960582	0	0	15	0
chr7	100991161	100991161	C	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C598A:p.P200T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	.	.	.	.	.	.	1.000	N	0	N	2.48	T	-0.960	T	0.014	T	0.044	0.040	4.219	-0.459	-0.191	0.039	1.695	0.014	0.0146613496799	.	0.000399361	0.0004	0	0	0	0	0	0	0.0011	7.12e-05	11	154602	rs542581157	4.114e-05	3.899e-05	2.992e-05	5.266e-05	0.0007	3.215e-05	2.936e-05	0.0005	0.0005	0	0	0	0	0	0	9.269e-07	3.442e-05	0.0007	3.284e-05	3.281e-05	2.571e-05	4.029e-05	0.0010	1.26e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.005	0.63226	D	0.526	0.12002	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.3	0.32576	L	2.48	0.14783	T	-1.1	0.29727	N	0.022	0.00571	-0.9603	0.39124	T	0.014	0.05753	T	7	0.012651235	0.00271	T	0.014661	0.34921	T	0.014	0.01968	0.241	0.17371	0.0401082797425	0.02173	0.010467335753491652	0.01007	.	.	0.447982847691	0.31668	T	0.003344	0.02748	T	-0.685824	0.00044	T	-0.808356	0.01702	T	0.0435098052530811	0.04332	T	0.288971	0.06216	T	0.050712388	0.09204	0.04622014	0.06395	0.050712388	0.09204	0.04622014	0.06395	-7.525	0.57786	D	.	.	0.112	0.21877	B	.;.	.;.	-0.437398	0.02077	0.192	0.91747773281377143	0.21047	0.00306	0.01624	N	AEFBI	0.031621	0.03417	N	-1.07719999187218	0.07065	0.3271081	-1.24464749163666	0.05211	0.2477409	1.30588786929695E-5	0.02871	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	0.713	-0.459	0.11571	-1.519000	0.02347	-6.575000	0.01361	-1.486000	0.01052	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3229:0.4061:0.0:0.271	1.695	0.02688	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	4281.98	39	chr7	100991161	.	C	A	4281.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.155e+00;DP=1476;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.973;QD=11.96;ReadPosRankSum=-7.880e-01;SOR=0.674	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1230	20	0	1	0
chr7	100991611	100991611	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G1048A:p.A350T,	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	0	N	2.65	T	-0.945	T	0.012	T	0.035	-0.374	2.241	0.637	0.653	-0.967	4.531	0.029	.	.	.	0.0671	0.0553	0.0207	0.0579	0.0992	0.0780	0.0588	0.0542	0.0001153	3	26028	rs201384124	0.0010	0.0017	0.0010	0.0011	0.0013	0.0010	0.0010	0.0010	0.0010	0.0003	0.0004	0.0022	0.0002	0.0001	0.0013	0.0011	0.0014	0.0011	0.0013	0.0014	0.0014	0.0012	0.0025	0.0011	0.0011	0.0021	0.0020	0.0004	0	0.0003	0.0034	0.0003	0	0.0158	0.0025	0.0007	0.0011	1.0	0.00964	T	0.026	0.55759	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-2.045	0.00177	N	2.65	0.12676	T	0.17	0.05217	N	0.008	0.00279	-0.9451	0.41797	T	0.012	0.04795	T	7	0.0041622818	0.00082	T	.	.	.	0.029	0.06676	.	.	.	.	0.0014868172778999987	0.00137	.	.	0.60544103384	0.53672	T	0.003769	0.03181	T	-0.812976	0.00006	T	-0.880548	0.00649	T	0.00337948559454426	0.00036	T	0.253275	0.05889	T	0.018368911	0.00358	0.048660997	0.07276	0.018368911	0.00358	0.048660997	0.07275	0.079	0.00322	T	.	.	0.078	0.06756	B	.;.	.;.	-0.798015	0.01111	0.050	0.23270300518739806	0.00976	0.00059	0.00440	N	AEFDBI	0.030227	0.03004	N	-1.10942111368607	0.06474	0.2981596	-1.24948818072852	0.05139	0.2441357	8.5790013234229E-5	0.04703	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.637	0.637	0.16907	-1.192000	0.03161	-7.885000	0.01068	-1.048000	0.01648	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4202:0.5797:1.0E-4	4.531	0.11409	818	0.41518	.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.02632	309.72	317	chr7	100991611	.	G	A	309.72	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.23;DP=6411;ExcessHet=0.0000;FS=39.710;InbreedingCoeff=-0.0500;MLEAC=1;MLEAF=0.026;MQ=58.89;MQRankSum=-1.675e+01;QD=0.87;ReadPosRankSum=-5.499e+00;SOR=3.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:298,0:298:99:.:.:0,120,1800	18	0	1	2
chr7	100991624	100991624	A	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.A1061T:p.H354L,	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	.	.	.	.	.	.	1.000	N	0	N	2.73	T	-0.968	T	0.013	T	0.127	-0.712	0.934	-1.27	-0.716	-0.222	1.411	0.006	.	.	.	0.0139	0.0048	0.0108	0.0346	0.0159	0.0177	0.0086	0.0113	0.0001537	4	26028	rs61747424	0.0006	0.0013	0.0006	0.0007	0.0014	0.0006	0.0006	0.0011	0.0011	0.0001	0.0005	0.0025	0.0005	0.0006	0.0002	0.0006	0.0011	0.0014	0.0011	0.0012	0.0012	0.0009	0.0021	0.0009	0.0008	0.0017	0.0016	0.0002	0	0.0003	0.0049	0	0.0002	0.0111	0.0021	0	0.0004	0.241	0.17643	T	0.195	0.28032	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.735	0.00332	N	2.73	0.11839	T	0.33	0.04022	N	0.015	0.00882	-0.9676	0.37693	T	0.013	0.05177	T	7	0.0038626492	0.00073	T	.	.	.	0.006	0.00375	.	.	.	.	0.002433093911046223	0.00225	.	.	0.596620261669	0.52427	T	0.003536	0.02940	T	-0.373274	0.03431	T	-0.773959	0.02640	T	0.00329215548494194	0.00035	T	0.151185	0.01686	T	0.035752583	0.04267	0.04066545	0.04446	0.035752583	0.04267	0.04066545	0.04445	0.412	0.00345	T	.	.	0.158	0.34970	B	.;.	.;.	-0.465212	0.01980	0.173	0.38324419502536222	0.02578	0.00011	0.00159	N	AEFDBI	0.020051	0.00753	N	-1.08505114179907	0.06918	0.3198499	-1.27307484654956	0.04798	0.2271737	1.24736336415903E-4	0.05386	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.637	-1.27	0.08863	-1.090000	0.03483	-2.525000	0.03648	-2.102000	0.00394	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3292:0.2765:0.0:0.3943	1.411	0.02154	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02941	1492.53	.	chr7	100991624	.	A	T	1492.53	.	AC=1;AF=0.029;AN=34;BaseQRankSum=6.41;DP=6516;ExcessHet=0.0000;FS=11.822;InbreedingCoeff=-0.0769;MLEAC=1;MLEAF=0.029;MQ=59.02;MQRankSum=-1.426e+01;QD=3.91;ReadPosRankSum=-4.376e+00;SOR=1.300	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:298,0:298:99:.:.:0,120,1800	16	0	1	4
chr7	100991641	100991641	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G1078A:p.A360T,	.	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	0	N	2.65	T	-0.962	T	0.011	T	0.053	-0.710	0.940	-1.27	-1.224	-2.287	.	0.005	.	.	.	0.0155	0.0050	0.0132	0.0417	0.0175	0.0198	0.0102	0.0125	0.0001921	5	26028	rs199720463	0.0018	0.0023	0.0017	0.0020	0.0041	0.0018	0.0017	0.0034	0.0033	0.0005	0.0028	0.0044	0.0041	0.0014	0.0016	0.0016	0.0024	0.0038	0.0016	0.0017	0.0018	0.0013	0.0030	0.0013	0.0012	0.0024	0.0022	0.0004	0	0.0005	0.0083	0.0015	0.0002	0.0127	0.0030	0.0011	0.0012	1.0	0.00964	T	0.032	0.53426	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.75	0.01730	N	2.65	0.12676	T	0.52	0.03700	N	0.01	0.00095	-0.9620	0.38800	T	0.011	0.04369	T	6	0.002170533	0.00031	T	.	.	.	0.005	0.00259	.	.	.	.	0.001674034491428674	0.00154	.	.	0.567256093025	0.48291	T	0.003048	0.02453	T	-0.432002	0.01441	T	-0.858317	0.00861	T	0.0040173366323953	0.00043	T	0.218978	0.03459	T	0.03216753	0.03190	0.106965356	0.25742	0.03216753	0.03190	0.106965356	0.25742	-0.464	0.00562	T	.	.	0.100	0.17103	B	.;.	.;.	-1.986652	0.00104	0.002	0.25000751861114417	0.01132	0.00075	0.00520	N	AEFDBI	0.028703	0.02578	N	-1.32642038987601	0.03376	0.1506901	-1.49891551144516	0.02354	0.1081183	2.77590875686656E-4	0.06300	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.637	-1.27	0.08863	-1.814000	0.01817	-7.422000	0.01160	-2.203000	0.00354	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.0625	3616.07	350	chr7	100991641	.	G	A	3616.07	.	AC=2;AF=0.063;AN=32;BaseQRankSum=3.45;DP=6790;ExcessHet=0.1072;FS=12.192;InbreedingCoeff=-0.1200;MLEAC=2;MLEAF=0.063;MQ=59.04;MQRankSum=-1.110e+01;QD=4.73;ReadPosRankSum=-4.201e+00;SOR=1.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:298,0:298:99:.:.:0,120,1800	14	0	2	5
chr7	100992128	100992128	C	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C1565T:p.T522I,	.	.	395	1126	1	0	0	1	0.000443853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	.	.	.	.	.	.	1.000	N	0	N	2.74	T	-0.969	T	0.019	T	0.043	-0.151	3.264	0.695	0.662	0.065	7.253	0.059	0.00580978232216	.	0.00159744	0.0028	0	0.0026	0	0	0	0.0042	0.0076	0.0005175	80	154602	rs371055512	0.0005	0.0006	0.0003	0.0007	0.0076	0.0004	0.0004	0.0071	0.0069	6.333e-05	5.619e-05	0	0	0	0.0002	1.854e-06	0.0006	0.0076	0.0003	0.0003	0.0002	0.0004	0.0077	0.0002	0.0002	0.0057	0.0051	7.215e-05	0	6.533e-05	0	0	0	0	0	0	0.0077	0.002	0.72154	D	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.975	0.24501	L	2.74	0.11730	T	-0.86	0.23372	N	0.038	0.01203	-0.9691	0.37386	T	0.019	0.07939	T	7	0.005603224	0.00124	T	0.00581	0.15101	T	0.059	0.16972	0.321	0.30064	0.0482279557977	0.04254	0.0018342329353403385	0.00169	.	.	0.484391391277	0.36662	T	0.003088	0.02494	T	-0.706253	0.00034	T	-0.782414	0.02381	T	0.0130791852591465	0.00229	T	0.326667	0.06836	T	0.046313137	0.07730	0.06582385	0.13397	0.046313137	0.07730	0.06582385	0.13396	-7.945	0.60694	D	.	.	0.415	0.60421	A	.;.	.;.	1.508359	0.19383	14.23	0.37451046858671216	0.02468	0.00188	0.01093	N	AEFDBI	0.026659	0.02041	N	-0.853019079297758	0.11976	0.5810165	-1.0182411444427	0.09384	0.4665719	4.19233504221828E-5	0.03989	0.554377	0.28877	0	0.626922	0.53725	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.695	0.695	0.17231	0.066000	0.14358	-1.402000	0.05524	-1.076000	0.01581	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.9999:0.0:1.0E-4	7.253	0.25333	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1968.98	432	chr7	100992128	.	C	T	1968.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.430e-01;DP=10164;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.87;MQRankSum=1.00;QD=6.17;ReadPosRankSum=-5.000e-03;SOR=0.684	GT:AD:DP:GQ:PL	0/0:862,0:862:99:0,120,1800	20	0	1	0
chr7	100992904	100992904	G	C	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G2341C:p.V781L,	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	.	.	.	.	.	.	1.000	N	0	N	2.73	T	-0.976	T	0.012	T	0.104	-1.363	0.027	-0.962	-1.836	-1.057	.	0.017	0.0097231580652	.	.	0.0003	0	0	0	0	0.0003	0	0.0005	6.47e-05	10	154602	rs775213839	0.0001	0.0002	0.0001	0.0002	0.0005	0.0001	0.0001	0.0001	0.0001	0	0	0	0	0	0.0005	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0011	0.0001	0.0001	0.0004	0.0003	4.923e-05	0	0	0	0	0	0	0.0003	0	0.0011	0.479	0.08261	T	0.203	0.28391	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	2.73	0.11839	T	-0.21	0.10308	N	0.073	0.04668	-0.9763	0.35838	T	0.012	0.04700	T	6	0.030092925	0.01136	T	0.009723	0.25381	T	0.017	0.02790	.	.	0.0138822411134	0.00435	0.006663486843002192	0.00634	.	.	0.503233790398	0.39279	T	0.004011	0.03423	T	-0.60419	0.00137	T	-0.802524	0.01840	T	0.019986963157191	0.00699	T	0.188081	0.01971	T	0.06951128	0.15235	0.07785018	0.17381	0.06951128	0.15235	0.07785018	0.17381	-3.997	0.23759	T	.	.	0.177	0.46481	B	.;.	.;.	-1.017246	0.00747	0.023	0.19419920571389199	0.00654	0.00070	0.00494	N	AEFBI	0.032396	0.03651	N	-1.48038028265341	0.01989	0.08734842	-1.66588318313298	0.01296	0.05845826	1.17607747901002E-4	0.05269	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.481	-0.962	0.09806	-2.596000	0.00969	-4.867000	0.01950	-2.517000	0.00258	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	4265.98	340	chr7	100992904	.	G	C	4265.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.646e+00;DP=7918;ExcessHet=0.0000;FS=1.202;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=42.06;MQRankSum=-5.956e+00;QD=6.34;ReadPosRankSum=0.611;SOR=0.579	GT:AD:DP:GQ:PL	0/0:585,0:585:99:0,120,1800	20	0	1	0
chr7	100993010	100993010	C	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C2447T:p.T816M,	.	.	409	1109	4	0	0	4	0.00180018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	.	.	.	.	.	.	1.000	N	0	N	2.7	T	-0.968	T	0.013	T	0.069	-0.569	1.434	0.481	0.504	1.303	6.766	0.036	0.00452515238766	0.0031	0.00379393	0.0018	0.0025	0	0	0	0.0018	0	0.0022	0.0004204	65	154602	rs369484988	0.0022	0.0045	0.0022	0.0022	0.0038	0.0021	0.0021	0.0033	0.0031	0.0038	0.0022	0.0041	0.0003	0.0025	0.0002	0.0022	0.0027	0.0015	0.0025	0.0040	0.0024	0.0025	0.0033	0.0023	0.0022	0.0029	0.0027	0.0033	0	0.0030	0.0044	0	0.0014	0	0.0023	0.0014	0.0015	0.123	0.27544	T	0.02	0.58613	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.01	0.25309	L	2.7	0.12162	T	-0.5	0.15782	N	0.058	0.02964	-0.9682	0.37571	T	0.013	0.05081	T	7	0.006265819	0.00141	T	0.004525	0.11125	T	0.036	0.09122	.	.	0.0401082797425	0.02173	0.027678140518148393	0.02717	.	.	0.505224347115	0.39555	T	0.001987	0.01394	T	-0.676911	0.00050	T	-0.758342	0.03172	T	0.00418977222914222	0.00045	T	0.351465	0.09121	T	0.023684785	0.01129	0.03850553	0.03735	0.023684785	0.01129	0.03850553	0.03735	-7.036	0.54296	T	.	.	0.140	0.33687	B	.;.	.;.	1.474786	0.18991	14.03	0.59463787936966817	0.06230	0.01420	0.04791	N	AEFBI	0.046928	0.07847	N	-0.852093647841034	0.11999	0.5822373	-1.02799269619295	0.09172	0.4548479	3.25670559445159E-5	0.03775	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.481	0.481	0.16020	0.331000	0.19477	-2.613000	0.03548	0.350000	0.19923	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.9998:0.0:2.0E-4	6.766	0.22753	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3001.98	340	chr7	100993010	.	C	T	3001.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.52;DP=6345;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=50.62;MQRankSum=-1.006e+00;QD=3.78;ReadPosRankSum=-4.420e-01;SOR=0.677	GT:AD:DP:GQ:PL	0/0:585,0:585:99:0,120,1800	20	0	1	0
chr7	100993793	100993793	G	C	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G3230C:p.R1077P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	.	.	.	.	.	.	1.000	N	0	N	2.56	T	-0.960	T	0.013	T	0.075	-1.543	0.015	-1.43	-1.374	-3.324	3.600	0.012	0.00621508415409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.401e-07	2.145e-06	1.666e-06	0	.	0	0	.	.	0	0	4.363e-05	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.265	0.16305	T	0.121	0.38305	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.245	0.00777	N	2.56	0.13673	T	0.74	0.02195	N	0.072	0.04547	-0.9602	0.39143	T	0.013	0.05321	T	7	0.043498784	0.03206	T	0.006215	0.16288	T	0.012	0.01476	0.248	0.18447	0.0611884634855	0.05136	0.005906217657864873	0.00559	.	.	0.43521848321	0.29923	T	0.003125	0.02525	T	-0.402733	0.02222	T	-0.816275	0.01529	T	0.0403918094199361	0.03762	T	0.19518	0.02617	T	0.06752166	0.14628	0.06679672	0.13731	0.06752166	0.14627	0.06679672	0.13730	-0.242	0.00516	T	.	.	0.128	0.27222	B	.;.	.;.	-0.934925	0.00869	0.031	0.29610672802724564	0.01579	0.00031	0.00285	N	AEFI	0.033891	0.04103	N	-1.54228350050429	0.01580	0.06903556	-1.7230075608435	0.01039	0.04663319	7.56152405580516E-5	0.04552	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.713	-1.43	0.08418	-1.643000	0.02106	-8.680000	0.00930	-1.778000	0.00656	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2214:0.4862:0.2924	3.600	0.07567	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1	2373.58	147	chr7	100993793	.	G	A,C	2373.58	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=0.552;DP=2632;ExcessHet=0.6776;FS=5.019;InbreedingCoeff=-0.1200;MLEAC=3,1;MLEAF=0.075,0.025;MQ=29.88;MQRankSum=1.67;QD=3.85;ReadPosRankSum=0.093;SOR=1.109	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:203,0,0:203:0:.:.:0,0,4296,0,4296,4296	16	0	3	1
chr7	100994332	100994332	C	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C3769A:p.P1257T,	.	.	955	564	2	1	0	4	0.00353357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	.	.	.	.	.	.	1.000	N	0	N	2.48	T	-0.982	T	0.018	T	0.072	-0.944	0.353	-0.69	-0.357	-2.331	3.763	0.016	.	.	0.000998403	0.0121	0	0	0	0	0	0	0.0273	0.0001921	5	26028	rs547313482	0.0010	0.0007	0.0006	0.0015	0.0135	0.0010	0.0010	0.0126	0.0123	0.0001	0	0	0	0	0.0017	0.0001	0.0006	0.0135	0.0006	0.0004	0	0.0013	0.0254	0.0004	0.0004	0.0179	0.0154	0	0	0	0	0	0	0	3.988e-05	0	0.0254	0.268	0.16144	T	0.084	0.41239	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.975	0.24501	L	2.48	0.14783	T	-0.31	0.12099	N	0.03	0.01135	-0.9819	0.34561	T	0.018	0.07706	T	7	0.0038413107	0.00073	T	.	.	.	0.016	0.02506	0.139	0.04277	0.0401082797425	0.02173	0.003824477920115496	0.00358	.	.	0.505482077599	0.39592	T	0.002909	0.02309	T	-0.52578	0.00407	T	-0.80134	0.01869	T	0.00622041473207226	0.00069	T	0.373163	0.08852	T	0.03307861	0.03456	0.043670386	0.05483	0.03307861	0.03455	0.043670386	0.05483	-6.811	0.52641	T	.	.	0.134	0.29088	B	.;.	.;.	0.826476	0.11977	8.537	0.36194981064846504	0.02315	0.00111	0.00708	N	AEFI	0.036619	0.04908	N	-1.0677552779539	0.07244	0.3359142	-1.26294764009368	0.04941	0.2343246	1.29486472340696E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.481	-0.69	0.10741	-1.465000	0.02463	-3.050000	0.03106	-0.732000	0.03721	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3501:0.0:0.6498	3.763	0.08136	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.06667	3846.06	34	chr7	100994332	.	C	A	3846.06	.	AC=2;AF=0.067;AN=30;DP=445;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5229;MLEAC=3;MLEAF=0.100;MQ=36.44;QD=24.92;SOR=1.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1,0:1:3:.:.:0,3,11	14	1	0	6
chr7	100994333	100994333	C	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C3770A:p.P1257H,	.	.	952	567	2	1	0	4	0.00351494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	.	.	1.000	N	0	N	2.44	T	-0.998	T	0.020	T	0.141	-0.730	0.877	0.713	0.673	0.364	3.071	0.066	.	.	0.000998403	0.0121	0	0	0	0	0	0	0.0275	0.0001921	5	26028	rs565859559	0.0011	0.0007	0.0006	0.0016	0.0135	0.0010	0.0010	0.0126	0.0123	0.0001	0	0	0	0	0.0017	0.0001	0.0006	0.0135	0.0006	0.0004	0	0.0012	0.0253	0.0004	0.0004	0.0178	0.0154	0	0	0	0	0	0	0	3.981e-05	0	0.0253	0.002	0.72154	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.975	0.24501	L	2.44	0.15261	T	-1.5	0.36586	N	0.078	0.05287	-0.9976	0.30590	T	0.020	0.08593	T	7	0.004235536	0.00085	T	.	.	.	0.066	0.19193	0.132	0.03662	0.149567049428	0.14543	0.0038821372414133675	0.00364	.	.	0.503758072853	0.39351	T	0.003253	0.02657	T	-0.435161	0.01381	T	-0.671824	0.07492	T	0.0368080220796572	0.03123	T	0.329867	0.06895	T	0.09555348	0.22489	0.101211056	0.24223	0.09555348	0.22489	0.101211056	0.24223	-8.455	0.64131	D	.	.	0.236	0.47016	B	.;.	.;.	1.601073	0.20470	14.76	0.46275365916339445	0.03694	0.00854	0.03405	N	AEFI	0.040384	0.06000	N	-0.832598821860392	0.12483	0.6087178	-1.00264680829362	0.09727	0.4856046	1.29810242774381E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.713	0.713	0.17330	-0.431000	0.07034	-0.744000	0.07606	0.282000	0.18639	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6678:0.0:0.3321	3.071	0.05853	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.06667	3846.06	34	chr7	100994333	.	C	A	3846.06	.	AC=2;AF=0.067;AN=30;DP=450;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5229;MLEAC=3;MLEAF=0.100;MQ=36.62;QD=26.81;SOR=1.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1,0:1:3:.:.:0,3,11	14	1	0	6
chr7	100995392	100995392	G	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G4829T:p.S1610I,	.	.	409	1106	7	0	0	7	0.00315457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	.	.	.	.	.	.	1.000	N	0	N	2.66	T	-0.976	T	0.018	T	0.098	0.488	6.647	0.936	0.816	-0.143	5.240	0.016	0.0139564381892	.	.	0.0008	0	0	0	0	0.0009	0	0.0011	3.84e-05	1	26028	rs749705722	0.0002	0.0036	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	9.572e-05	0	0	0	2.839e-05	0.0014	0.0002	0.0001	0.0002	9.985e-05	0.0007	9.115e-05	0.0001	0.0002	6.084e-05	4.941e-05	0.0001	8.651e-05	0.0002	0	6.599e-05	0	0	9.471e-05	0	5.92e-05	0	0	0.009	0.57480	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.185	0.30054	L	2.66	0.12575	T	-0.64	0.18670	N	0.083	0.08506	-0.9762	0.35860	T	0.018	0.07282	T	7	0.0496794	0.04591	T	0.013956	0.33748	T	0.016	0.02506	.	.	0.167679373172	0.16340	0.04229046124785458	0.04174	.	.	0.436500966549	0.30099	T	0.002984	0.02381	T	-0.351905	0.04607	T	-0.743263	0.03754	T	0.0251524341583151	0.01293	T	0.365463	0.08501	T	0.051199626	0.09367	0.056483008	0.10099	0.051199626	0.09366	0.056483008	0.10098	-8.87	0.71288	D	.	.	0.157	0.40889	B	.;.	.;.	1.313329	0.17168	13.00	0.9615705095658198	0.28887	0.00723	0.03043	N	AEFI	0.034503	0.04283	N	-0.8195499682895	0.12811	0.6269095	-0.971923213665518	0.10419	0.5246223	1.96066505655881E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.936	0.936	0.18613	-1.082000	0.03510	-4.792000	0.01984	-0.466000	0.05104	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.0:1.0:0.0	5.240	0.14787	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	145.98	486	chr7	100995392	.	G	T	145.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.881e+00;DP=3651;ExcessHet=0.0000;FS=5.569;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.14;MQRankSum=-8.475e+00;QD=0.25;ReadPosRankSum=1.93;SOR=1.341	GT:AD:DP:GQ:PL	0/1:518,72:590:99:160,0,14428	20	0	1	0
chr7	100996153	100996153	G	C	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G5590C:p.V1864L,	.	.	788	732	2	0	0	2	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	.	.	.	.	.	.	1.000	N	0	N	2.73	T	-0.980	T	0.013	T	0.14	-1.369	0.026	-0.944	-1.647	-1.921	.	0.064	0.00770671566112	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1305733286	0.0014	0.0076	0.0015	0.0014	0.0017	0.0014	0.0013	0.0016	0.0016	0.0002	0.0006	0.0003	0	0.0004	0.0013	0.0017	0.0008	0.0007	0.0017	0.0069	0.0018	0.0014	0.0026	0.0015	0.0014	0.0018	0.0017	0.0004	0.0038	0.0025	0.0013	0	0.0023	0	0.0021	0.0019	0.0026	0.668	0.04588	T	0.177	0.33219	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.73	0.11839	T	-0.43	0.14390	N	0.077	0.05162	-0.9800	0.35002	T	0.013	0.04890	T	6	0.016234547	0.00342	T	0.007707	0.20457	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.00941262599498134	0.00904	.	.	0.534649372101	0.43689	T	0.004547	0.03958	T	-0.350214	0.04714	T	-0.740834	0.03856	T	0.00857765827161554	0.00105	T	0.191481	0.02052	T	0.073849864	0.16532	0.066425376	0.13606	0.073849864	0.16532	0.066425376	0.13605	-0.292	0.00641	T	.	.	0.186	0.40229	B	.;.	.;.	-0.959578	0.00830	0.028	0.21294105380996659	0.00805	0.00056	0.00418	N	AEFI	0.018039	0.00516	N	-1.50142002448653	0.01841	0.08071402	-1.6866193745322	0.01197	0.05391158	9.20458990407013E-5	0.04910	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	0.472	-0.944	0.09862	-0.480000	0.06639	.	.	-2.019000	0.00436	0.000000	0.06391	.	.	0.000000	0.00833	.	.	.	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	128.78	34	chr7	100996153	.	G	C	128.78	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.377e+00;DP=731;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0794;MLEAC=3;MLEAF=0.071;MQ=36.10;MQRankSum=0.493;QD=1.03;ReadPosRankSum=-2.360e-01;SOR=0.055	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	3	0
chr7	100996232	100996232	C	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C5669T:p.T1890M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	.	.	.	.	.	.	1.000	N	0	N	2.7	T	-0.973	T	0.019	T	0.06	-0.666	1.084	0.744	0.673	-0.131	.	0.011	0.0173797861704	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1231887143	7.96e-05	0.0006	9.155e-05	6.73e-05	0.0031	6.731e-05	6.256e-05	0.0026	0.0024	0.0031	0.0001	0	0	0	0	3.768e-06	8.842e-05	7.796e-05	0.0008	0.0054	0.0008	0.0008	0.0029	0.0007	0.0006	0.0025	0.0023	0.0029	0	0.0003	0	0	0	0	1.473e-05	0.0005	0	0.0	0.91255	D	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.895	0.50365	L	2.7	0.12162	T	-1.43	0.35194	N	0.023	0.01740	-0.9734	0.36474	T	0.019	0.07939	T	6	0.042583793	0.03022	T	0.01738	0.39055	T	0.011	0.01250	0.2	0.11384	0.0482279557977	0.04254	0.02543632627579752	0.02494	.	.	0.568692445755	0.48493	T	0.005547	0.05002	T	-0.339044	0.05455	T	-0.72479	0.04567	T	0.0192322482552355	0.00629	T	0.510449	0.16283	T	0.04754467	0.08144	0.09889975	0.23595	0.04754467	0.08144	0.09889975	0.23594	-7.41	0.56975	T	.	.	0.156	0.34514	B	.;.	.;.	2.046236	0.26014	16.97	0.51208319387810564	0.04521	0.00418	0.02065	N	AEFI	0.028299	0.02467	N	-0.858352768303371	0.11844	0.573908	-1.02831286085468	0.09165	0.4544672	1.63987838134513E-5	0.02871	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	0.744	0.744	0.17503	-0.044000	0.11977	-1.999000	0.04367	-1.577000	0.00925	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	179.98	43	chr7	100996232	.	C	T	179.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.95;DP=1129;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=35.09;MQRankSum=-7.510e-01;QD=3.33;ReadPosRankSum=-8.800e-01;SOR=0.058	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,114,1710	20	0	1	0
chr7	100996634	100996634	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G6071A:p.S2024N,	.	.	508	989	25	0	0	25	0.0124813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	.	.	.	.	.	.	1.000	N	0	N	2.68	T	-0.967	T	0.016	T	0.071	0.061	4.330	-0.282	-0.107	-0.487	4.461	0.012	0.0140274259014	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs201009895	5.919e-05	0.0006	4.745e-05	7.066e-05	0.0006	4.615e-05	4.185e-05	0.0002	0.0001	0.0001	0.0004	0.0003	0.0002	0.0002	0.0006	1.515e-05	0	0.0002	0.0004	0.0023	0.0003	0.0005	0.0015	0.0003	0.0003	0.0010	0.0008	0.0005	0	0.0015	0	0.0006	0	0	0.0002	0.0005	0.0009	0.0	0.91255	D	0.064	0.44905	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.935	0.51832	L	2.68	0.12371	T	-0.86	0.23372	N	0.092	0.07125	-0.9669	0.37834	T	0.016	0.06569	T	7	0.093948334	0.16667	T	0.014027	0.33868	T	0.012	0.01476	.	.	0.0138822411134	0.00435	0.011766040700622862	0.01136	.	.	0.429456561804	0.29133	T	0.002718	0.02115	T	-0.345439	0.05020	T	-0.733975	0.04149	T	0.0890976508453012	0.11110	T	0.294071	0.05429	T	0.09936937	0.23451	0.10994819	0.26504	0.09936937	0.23451	0.10994819	0.26504	-9.028	0.74568	D	.	.	0.456	0.62523	A	.;.	.;.	0.209536	0.05930	2.373	0.59872127429762345	0.06327	0.00265	0.01446	N	AEFI	0.043864	0.06987	N	-0.914581382338609	0.10501	0.5020716	-1.0763760444893	0.08167	0.4003712	1.18008797771581E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.891	-0.282	0.12241	-0.717000	0.05088	-0.805000	0.07358	-0.596000	0.04633	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4236:0.5764:0.0	4.461	0.11085	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	82.98	43	chr7	100996634	.	G	A	82.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.569e+00;DP=1357;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=36.19;MQRankSum=-4.595e+00;QD=2.24;ReadPosRankSum=-2.720e-01;SOR=0.064	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,114,1710	20	0	1	0
chr7	100996691	100996691	T	C	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.T6128C:p.V2043A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	.	.	.	.	.	.	1.000	N	0	N	2.66	T	-0.943	T	0.012	T	0.075	-0.416	2.057	-0.576	-0.180	-1.111	3.041	0.053	0.00689331228106	.	.	0.0002	0	0	0	0	0	0	0.0006	3.84e-05	1	26028	rs767427396	2.148e-05	5.689e-05	2.051e-05	2.244e-05	0.0003	1.374e-05	1.107e-05	7.513e-05	5.628e-05	5.083e-05	8.553e-05	0	0	0	0.0003	6.123e-06	4.993e-05	0.0001	0.0001	0.0004	0.0001	0.0001	0.0003	7.579e-05	6.204e-05	0.0002	0.0002	0.0003	0	0.0003	0	0	0	0	1.612e-05	0	0	0.566	0.06262	T	0.563	0.09022	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.895	0.22405	L	2.66	0.12575	T	-0.05	0.07736	N	0.032	0.00882	-0.9434	0.42073	T	0.012	0.04700	T	7	0.04305029	0.03115	T	0.006893	0.18233	T	0.053	0.14996	0.077	0.00572	0.0138822411134	0.00435	0.008497003684550438	0.00813	.	.	0.457367569208	0.32950	T	0.003613	0.03020	T	-0.403184	0.02206	T	-0.816923	0.01515	T	0.0254349916077329	0.01330	T	0.221278	0.03057	T	0.019719224	0.00509	0.03130056	0.01699	0.019719224	0.00508	0.03130056	0.01699	-6.875	0.62365	T	.	.	0.362	0.57311	A	.;.	.;.	-0.754910	0.01199	0.059	0.30904732668997048	0.01714	0.00065	0.00468	N	AEFI	0.029922	0.02914	N	-1.13378982589605	0.06050	0.2775148	-1.29937916625295	0.04440	0.2094076	1.2302482961349E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.891	-0.576	0.11143	-4.137000	0.00326	-20.000000	0.00162	-2.289000	0.00325	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3205:0.0:0.6795	3.041	0.05766	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2482.15	43	chr7	100996691	.	T	C	2482.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.35;DP=1470;ExcessHet=0.0000;FS=0.622;InbreedingCoeff=-0.0323;MLEAC=1;MLEAF=0.024;MQ=37.65;MQRankSum=-1.590e+00;QD=4.25;ReadPosRankSum=-1.722e+00;SOR=0.773	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1138	20	0	1	0
chr7	100998937	100998937	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G8374A:p.A2792T,	.	.	423	1092	7	0	0	7	0.00319489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.97	T	.	.	.	.	.	.	1.000	N	0	N	2.65	T	-0.947	T	0.012	T	0.034	-0.097	3.524	-1.6	-0.160	-0.295	2.994	0.006	.	.	.	0.0017	0.0224	0.0033	0	0	0.0003	0.0048	0	3.84e-05	1	26028	rs200522214	4.289e-05	0.0013	4.737e-05	3.83e-05	0.0017	3.378e-05	3.093e-05	0.0013	0.0012	0.0017	2.821e-05	0	0	0	0.0002	2.789e-06	8.734e-05	0	0.0008	0.0092	0.0008	0.0008	0.0031	0.0007	0.0007	0.0026	0.0025	0.0031	0	0.0001	0	0.0002	0	0	0	0.0010	0	1.0	0.00964	T	0.604	0.17217	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.65	0.12676	T	0.88	0.01813	N	0.012	0.00445	-0.9473	0.41431	T	0.012	0.04463	T	7	0.005195886	0.00113	T	.	.	.	0.006	0.00375	.	.	0.0138822411134	0.00435	0.031470559470033306	0.03096	.	.	0.499320447445	0.38732	T	0.003467	0.02869	T	-0.435299	0.01378	T	-0.863054	0.00811	T	0.0108103610534165	0.00153	T	0.19908	0.02235	T	0.020732736	0.00643	0.04498709	0.05953	0.020732736	0.00643	0.04498709	0.05953	-7.429	0.58471	T	.	.	0.069	0.03925	B	.;.	.;.	-0.794431	0.01117	0.051	0.62853308456665524	0.07070	0.00006	0.00120	N	AEFI	0.018152	0.00529	N	-1.42780191339589	0.02397	0.1058023	-1.57531402853178	0.01807	0.08229113	1.56425482405056E-5	0.02871	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	0.851	-1.6	0.07977	-0.964000	0.03943	-3.521000	0.02724	-2.163000	0.00369	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6789:0.0:0.3211:0.0	2.994	0.05627	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	80.98	239	chr7	100998937	.	G	A	80.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.025e+00;DP=2668;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=31.59;MQRankSum=-4.330e-01;QD=0.40;ReadPosRankSum=0.691;SOR=0.230	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1530	20	0	1	0
chr7	100999072	100999072	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G8509A:p.E2837K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	.	.	.	.	.	.	1.000	N	0	N	2.67	T	-0.943	T	0.013	T	0.089	0.699	7.729	0.1	0.170	-1.904	.	0.007	0.013734817451	.	.	0.0009	0	0	0	0	0.0015	0	0.0008	3.84e-05	1	26028	rs773068041	1.983e-05	0.0005	1.593e-05	2.384e-05	0.0003	1.358e-05	1.164e-05	0.0002	0.0001	0.0003	0	8.128e-05	0	0	0	1.129e-05	1.762e-05	2.57e-05	9.327e-05	0.0022	0.0001	6.809e-05	0.0003	5.602e-05	4.423e-05	0.0002	0.0001	0.0003	0	6.578e-05	0	0	0	0	1.472e-05	0	0	0.19	0.21144	T	0.339	0.18071	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.67	0.12473	T	-0.91	0.24460	N	0.056	0.02759	-0.9431	0.42121	T	0.013	0.04985	T	6	0.024649203	0.00686	T	0.013735	0.33353	T	0.007	0.00512	0.346	0.34112	0.0138822411134	0.00435	0.12496359971315486	0.12422	.	.	0.500120162964	0.38845	T	0.003695	0.03101	T	-0.37452	0.03372	T	-0.775748	0.02584	T	0.014086260900262	0.00274	T	0.276272	0.05662	T	0.0747081	0.16783	0.09225033	0.21731	0.0747081	0.16783	0.09225033	0.21731	-8.195	0.64416	D	.	.	0.173	0.38747	B	.;.	.;.	0.450798	0.08207	4.946	0.94802603457153267	0.25554	0.00165	0.00980	N	AEFI	0.044306	0.07111	N	-1.17698486655307	0.05349	0.2436335	-1.34567130505186	0.03857	0.1807825	1.17019748283552E-5	0.02871	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.1	0.1	0.13817	-1.440000	0.02518	-0.565000	0.08457	-0.666000	0.04332	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	610.99	56	chr7	100999072	.	G	A	610.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=8.72;DP=2039;ExcessHet=0.0000;FS=5.606;InbreedingCoeff=-0.0252;MLEAC=1;MLEAF=0.024;MQ=35.17;MQRankSum=-8.810e-01;QD=2.25;ReadPosRankSum=-3.300e-02;SOR=1.400	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1530	20	0	1	0
chr7	100999757	100999757	C	G	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C9194G:p.P3065R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	.	.	.	.	.	.	1.000	N	0	N	2.46	T	-0.948	T	0.019	T	0.122	-0.003	3.998	0.637	0.628	0.271	.	0.042	0.0157545969603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.81e-07	9.226e-06	0	1.968e-06	1.286e-06	0	0	.	.	0	0	0	0	0	0	1.286e-06	0	0	0	2.633e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.01	0.65728	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.895	0.22405	L	2.46	0.14907	T	-2.43	0.53258	N	0.097	0.14763	-0.9480	0.41313	T	0.019	0.07939	T	6	0.10929486	0.20383	T	0.015755	0.36670	T	0.042	0.11227	0.321	0.30064	0.124217242631	0.12060	0.0280833669782657	0.02758	.	.	0.479702055454	0.36015	T	0.013088	0.11383	T	-0.293122	0.09325	T	-0.658826	0.08346	T	0.145742782435546	0.16759	T	0.246275	0.03611	T	0.14199063	0.32694	0.28607905	0.54614	0.14199063	0.32694	0.28607905	0.54613	-8.637	0.65333	D	.	.	0.266	0.58369	B	.;.	.;.	1.517768	0.19489	14.29	0.80092725625617633	0.13041	0.01412	0.04773	N	AEFI	0.032360	0.03640	N	-0.94601811326872	0.09783	0.4645028	-1.10544665791306	0.07595	0.3700736	1.54836416551601E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.637	0.637	0.16907	0.349000	0.19801	0.868000	0.22289	0.225000	0.18106	0.001000	0.13787	0.001000	0.17328	0.001000	0.02609	.	.	.	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	75.15	53	chr7	100999757	.	C	G	75.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.188e+00;DP=914;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0326;MLEAC=1;MLEAF=0.024;MQ=30.52;MQRankSum=0.340;QD=1.39;ReadPosRankSum=0.863;SOR=0.036	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr7	101000158	101000158	A	C	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.A9595C:p.T3199P,	.	.	320	1201	1	0	0	1	0.000416146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	.	.	.	.	.	.	1.000	N	0	N	2.71	T	-0.976	T	0.014	T	0.078	-0.112	3.452	-1.43	-1.122	-1.133	.	0.024	0.00865523201168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.38863	T	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.59	0.40313	L	2.71	0.12162	T	-2.43	0.53258	N	0.075	0.06190	-0.9758	0.35948	T	0.014	0.05417	T	6	0.08608365	0.14596	T	0.008655	0.22854	T	0.024	0.04979	0.121	0.02793	0.0297737177859	0.01360	0.2412312042937645	0.24037	.	.	0.542991995811	0.44869	T	0.051532	0.28907	T	-0.364318	0.03892	T	-0.761094	0.03073	T	0.0616107470080019	0.07420	T	0.152385	0.01298	T	0.1990035	0.41824	0.25693125	0.51401	0.1990035	0.41824	0.25693125	0.51400	-7.725	0.59181	D	.	.	0.137	0.29860	B	.;.	.;.	1.151415	0.15394	11.82	0.33576882905082273	0.02007	0.00096	0.00628	N	AEFBI	0.045773	0.07523	N	-1.12748131504601	0.06158	0.282748	-1.32764797121285	0.04076	0.1915249	3.32026267177474E-5	0.03775	0.553676	0.25195	0	0.588015	0.36545	0	0.49644	0.08281	0	0.564101	0.26826	0	.	.	0.713	-1.43	0.08418	-0.391000	0.07383	-5.754000	0.01607	-0.408000	0.05273	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	838.98	2589	chr7	101000158	.	A	C	838.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.30;DP=39136;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=50.79;MQRankSum=-3.031e+00;QD=0.42;ReadPosRankSum=-8.490e-01;SOR=0.785	GT:AD:DP:GQ:PL	0/0:2993,0:2993:99:0,120,1800	20	0	1	0
chr7	101000293	101000293	A	G	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.A9730G:p.T3244A,	.	.	331	1174	17	0	0	17	0.00718816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	.	.	.	.	.	.	1.000	N	0	N	2.81	T	-0.920	T	0.012	T	0.081	-0.708	0.944	0.109	0.156	0.022	.	0.020	0.0147554947816	.	.	0.0019	0	0	0	0	0.0005	0.0042	0.0046	3.84e-05	1	26028	rs767546340	5.789e-06	0.0009	2.856e-06	8.802e-06	0.0002	2.49e-06	1.8e-06	4.119e-05	2.888e-05	0	0	0	0	0	0.0002	0	0	8.97e-05	6.57e-06	0.0007	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.505	0.11004	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.845	0.48678	L	2.81	0.10975	T	-1.17	0.29933	N	0.089	0.12913	-0.9200	0.45554	T	0.012	0.04700	T	6	0.012117922	0.00262	T	0.014755	0.35085	T	0.020	0.03691	.	.	0.0297737177859	0.01360	0.09361338531329641	0.09293	.	.	0.541573524475	0.44668	T	0.007058	0.06479	T	-0.552468	0.00282	T	-0.733799	0.04157	T	0.0482062467348094	0.05180	T	0.216578	0.02710	T	0.09819249	0.23157	0.1203934	0.29054	0.09819249	0.23157	0.1203934	0.29053	-8.066	0.61519	D	.	.	0.149	0.32898	B	.;.	.;.	0.656210	0.10244	6.983	0.27641341100792455	0.01382	0.00275	0.01491	N	AEFBI	0.022379	0.01112	N	-1.02287317704867	0.08130	0.3801577	-1.20135753606827	0.05888	0.2818667	1.16875703740527E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.49644	0.08281	0	0.564101	0.26826	0	.	.	0.109	0.109	0.13884	-0.918000	0.04130	-0.347000	0.09772	0.285000	0.18709	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2254.98	419	chr7	101000293	.	A	G	2254.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.96;DP=33513;ExcessHet=0.0000;FS=2.784;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=48.70;MQRankSum=-3.830e-01;QD=1.22;ReadPosRankSum=2.93;SOR=0.873	GT:AD:DP:GQ:PL	0/0:3173,0:3173:99:0,120,1800	20	0	1	0
chr7	101000543	101000543	C	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C9980T:p.T3327M,	.	.	351	1146	25	0	0	25	0.0107898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	.	.	.	.	.	.	1.000	N	0	N	2.7	T	-0.970	T	0.018	T	0.069	-0.954	0.335	0.109	0.181	0.447	.	0.037	.	.	.	0.0020	0.0056	0.0143	0.0031	0	0.0027	0	0.0009	0.0013447	35	26028	rs200862596	0.0002	0.0027	0.0002	0.0002	0.0038	0.0002	0.0001	0.0025	0.0021	0.0004	0.0005	0.0012	0.0002	2.842e-05	0.0038	6.508e-05	0.0003	0.0008	0.0003	0.0058	0.0003	0.0004	0.0015	0.0003	0.0002	0.0007	0.0005	0.0004	0.0011	0.0008	0.0009	0.0004	0	0.0034	7.366e-05	0.0010	0.0015	0.002	0.72154	D	0.019	0.59159	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.935	0.51832	L	2.7	0.12162	T	-2.36	0.52128	N	0.082	0.09349	-0.9696	0.37283	T	0.018	0.07234	T	6	0.005289614	0.00116	T	.	.	.	0.037	0.09474	.	.	0.0401082797425	0.02173	0.080728544459771	0.08007	.	.	0.525411248207	0.42388	T	0.008387	0.07706	T	-0.334029	0.05812	T	-0.717586	0.04913	T	0.042281387178106	0.04106	T	0.470053	0.16548	T	0.07458075	0.16745	0.11649555	0.28123	0.07458075	0.16745	0.11649555	0.28122	-9.68	0.71974	D	.	.	0.157	0.38871	B	.;.	.;.	1.736372	0.22098	15.48	0.35006739647171087	0.02173	0.00834	0.03351	N	AEFBI	0.040454	0.06020	N	-0.921885750160492	0.10331	0.4931725	-1.11293639666123	0.07453	0.3625532	1.17319446599152E-5	0.02871	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	0.109	0.109	0.13884	0.077000	0.14593	-0.243000	0.10574	0.301000	0.18947	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	852.98	419	chr7	101000543	.	C	T	852.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.645;DP=22425;ExcessHet=0.0000;FS=17.072;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=41.17;MQRankSum=-5.715e+00;QD=0.77;ReadPosRankSum=4.83;SOR=1.542	GT:AD:DP:GQ:PL	0/0:2000,0:2000:99:0,120,1800	20	0	1	0
chr7	101000747	101000747	C	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C10184T:p.P3395L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	.	.	.	.	.	.	1.000	N	0	N	2.47	T	-0.999	T	0.017	T	0.173	-1.540	0.015	.	-1.268	1.324	.	0.094	0.0241055654086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.257e-07	6.844e-06	0	1.471e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.736e-05	0	0	6.566e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.008	0.59928	D	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.845	0.48678	L	2.47	0.14907	T	-3.62	0.69593	D	0.131	0.12627	-0.9992	0.30143	T	0.017	0.06807	T	5	0.08890256	0.15351	T	0.024106	0.47094	T	0.094	0.27141	0.215	0.13498	0.0846915920261	0.08053	0.02369062732102179	0.02321	.	.	0.511341333389	0.40410	T	0.050369	0.28575	T	-0.251247	0.13946	T	-0.598675	0.12923	T	0.221964571421246	0.21561	T	0.39556	0.10511	T	0.057885196	0.11576	0.09711602	0.23102	0.057885196	0.11576	0.09711602	0.23101	-6.031	0.46538	T	.	.	0.188	0.40506	B	.;.	.;.	0.804520	0.11755	8.328	0.24498099568954018	0.01086	0.00585	0.02632	N	AEFI	0.031340	0.03327	N	-1.29506736921487	0.03734	0.1673412	-1.47508842201678	0.02550	0.1174812	3.75354971709761E-5	0.03775	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	.	.	.	1.302000	0.33063	-0.061000	0.12424	-0.702000	0.04048	0.052000	0.21487	0.000000	0.08366	0.000000	0.00833	.	.	.	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	301.98	419	chr7	101000747	.	C	T	301.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.82;DP=7121;ExcessHet=0.0000;FS=0.859;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=26.82;MQRankSum=-6.050e-01;QD=0.90;ReadPosRankSum=1.43;SOR=0.523	GT:AD:DP:GQ:PL	0/0:372,0:372:99:0,120,1800	20	0	1	0
chr7	101002843	101002843	C	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C12280T:p.P4094S,	.	.	653	864	2	3	0	8	0.00460829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	.	.	.	.	.	.	1.000	N	0	N	2.5	T	-0.950	T	0.012	T	0.106	-0.715	0.925	-1.23	-0.521	-1.249	3.798	0.005	0.00373543314567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.13e-06	3.377e-06	4.209e-06	0	0.0005	3.5e-07	1.3e-07	8.623e-05	3.587e-05	0	0	0	0	0	0.0005	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.28271	T	0.93	0.02777	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.5	0.14531	T	-1.07	0.27876	N	0.111	0.12341	-0.9495	0.41058	T	0.012	0.04653	T	7	0.071789205	0.10630	T	0.003735	0.08651	T	0.005	0.00259	0.121	0.02793	0.0401082797425	0.02173	0.013883061828667234	0.01345	.	.	0.343907296658	0.17021	T	0.003324	0.02728	T	-0.350173	0.04716	T	-0.740776	0.03857	T	0.0275614133307057	0.01625	T	0.210779	0.02928	T	0.024016328	0.01194	0.041439056	0.04711	0.024016328	0.01193	0.041439056	0.04711	-4.653	0.32830	T	.	.	0.119	0.27791	B	.;.	.;.	0.540067	0.09088	5.870	0.26196593007923519	0.01243	0.00195	0.01126	N	AEFI	0.034023	0.04142	N	-1.21927330450868	0.04720	0.2136671	-1.38831149324315	0.03376	0.1573354	1.69384473227754E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.9	-1.23	0.08977	0.119000	0.15456	-10.069000	0.00743	-0.648000	0.04400	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.4763:0.0:0.5237	3.798	0.08265	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.03571	4368.36	74	chr7	101002843	.	C	T	4368.36	.	AC=1;AF=0.036;AN=28;BaseQRankSum=2.11;DP=2684;ExcessHet=0.0000;FS=2.412;InbreedingCoeff=0.2254;MLEAC=1;MLEAF=0.036;MQ=52.93;MQRankSum=8.40;QD=13.74;ReadPosRankSum=-1.729e+00;SOR=0.565	GT:AD:DP:GQ:PL	./.	13	0	1	7
chr7	101003534	101003534	G	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G12971T:p.G4324V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	.	.	.	.	.	.	1.000	N	0	N	2.34	T	-0.955	T	0.017	T	0.063	-0.747	0.825	0.481	0.504	0.324	4.235	0.046	0.00723897455796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	0.15406	T	0.017	0.60337	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.55	0.14455	N	2.34	0.16351	T	-2.14	0.48523	N	0.055	0.02658	-0.9553	0.40042	T	0.017	0.07092	T	7	0.09206605	0.16180	T	0.007239	0.19198	T	0.046	0.12618	0.115	0.02372	0.168933306366	0.16529	0.011051379096115017	0.01066	.	.	0.487895846367	0.37147	T	0.050367	0.28575	T	-0.374652	0.03365	T	-0.775938	0.02579	T	0.0416628041998477	0.03993	T	0.373163	0.08852	T	0.050933532	0.09278	0.060177524	0.11416	0.050933532	0.09277	0.060177524	0.11416	-3.868	0.21824	T	.	.	0.247	0.48156	B	.;.	.;.	0.900870	0.12746	9.267	0.35988855596752289	0.02290	0.00535	0.02472	N	AEFBI	0.052739	0.09441	N	-0.957606093547116	0.09523	0.4510736	-1.12267682075177	0.07268	0.3529007	1.18500355944699E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.481	0.481	0.16020	0.198000	0.17018	-0.190000	0.11047	-0.783000	0.03311	0.007000	0.17678	0.000000	0.08366	0.001000	0.02609	0.0:0.4427:0.5572:1.0E-4	4.235	0.10073	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1265.98	266	chr7	101003534	.	G	T	1265.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.682;DP=6059;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=38.61;MQRankSum=-4.782e+00;QD=1.33;ReadPosRankSum=-1.282e+00;SOR=0.671	GT:AD:DP:GQ:PL	0/1:803,150:953:99:1280,0,18748	20	0	1	0
chr7	101004493	101004493	C	G	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C13930G:p.P4644A,	.	.	497	958	63	4	0	71	0.0357323	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	.	.	.	.	.	.	1.000	N	0	N	2.51	T	-0.955	T	0.009	T	0.059	-1.867	0.008	-0.261	-1.311	-0.634	.	0.011	.	0.0046	0.00479233	0.0145	0.0024	0.0118	0	0.0123	0.0076	0.0474	0.0250	0.0032273	84	26028	rs111307353	0.0069	0.0067	0.0061	0.0076	0.0280	0.0067	0.0067	0.0270	0.0267	0.0010	0.0041	0.0033	0.0003	0.0116	0.0251	0.0056	0.0066	0.0280	0.0056	0.0058	0.0049	0.0063	0.0213	0.0053	0.0051	0.0179	0.0166	0.0011	0	0.0024	0.0038	0.0006	0.0153	0.0214	0.0067	0.0117	0.0213	0.143	0.25355	T	0.911	0.02952	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.895	0.22405	L	2.51	0.14284	T	-0.14	0.16393	N	0.015	0.02088	-0.9552	0.40060	T	0.009	0.03096	T	6	0.0037515461	0.00070	T	.	.	.	0.011	0.01250	.	.	.	.	0.0013067610022922437	0.00120	.	.	0.444512039423	0.31193	T	0.006206	0.05647	T	-0.726623	0.00025	T	-0.796248	0.01998	T	0.0023018370117503	0.00024	T	0.213379	0.02617	T	0.02942691	0.02434	0.0741683	0.16195	0.02942691	0.02434	0.0741683	0.16195	1.834	0.00060	T	.	.	0.064	0.02609	B	.;.	.;.	-0.677403	0.01374	0.078	0.1196446150949034	0.00195	0.00081	0.00551	N	AEFBI	0.023841	0.01386	N	-1.4625874373199	0.02120	0.0932634	-1.63058557593802	0.01479	0.06695312	4.06484876756422E-5	0.03775	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.131	-0.261	0.12322	-0.330000	0.07968	.	.	-1.011000	0.01765	0.000000	0.06391	.	.	0.001000	0.02609	.	.	.	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	7175.11	67	chr7	101004493	.	C	G	7175.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.03;DP=1739;ExcessHet=0.1072;FS=5.133;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=53.35;MQRankSum=1.33;QD=12.70;ReadPosRankSum=1.10;SOR=0.449	GT:AD:DP:GQ:PL	0/0:64,0:64:99:0,120,1800	19	0	2	0
chr7	101004695	101004695	C	G	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C14132G:p.S4711C,	.	.	441	1079	2	0	0	2	0.000925926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	.	.	1.000	N	0	N	2.64	T	-0.973	T	0.013	T	0.117	-0.710	0.940	0.294	0.413	0.013	6.492	0.039	.	0.0039	0.00199681	0.0034	0.0014	0.0026	0	0.0118	0.0042	0.0212	0.0008	0.001009	156	154602	rs76020410	0.0036	0.0034	0.0037	0.0035	0.0044	0.0035	0.0035	0.0038	0.0037	0.0003	0.0021	0.0015	2.798e-05	0.0114	0.0044	0.0039	0.0028	0.0012	0.0035	0.0035	0.0031	0.0040	0.0044	0.0033	0.0032	0.0040	0.0038	0.0006	0	0.0016	0.0006	0	0.0160	0	0.0044	0.0062	0.0008	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.905	0.50856	L	2.64	0.12780	T	-1.21	0.35991	N	0.124	0.14480	-0.9729	0.36583	T	0.013	0.05273	T	7	0.005148381	0.00112	T	.	.	.	0.039	0.10176	.	.	0.0482279557977	0.04254	0.005244478138799523	0.00495	.	.	0.544150948524	0.45032	T	0.007051	0.06470	T	-0.612515	0.00122	T	-0.651658	0.08838	T	0.0199920691354407	0.00700	T	0.233577	0.03193	T	0.1035632	0.24479	0.11021468	0.26572	0.1035632	0.24479	0.11021468	0.26572	-11.169	0.80577	D	.	.	0.285	0.55053	B	.;.	.;.	1.159056	0.15475	11.88	0.29814861524444408	0.01600	0.00691	0.02950	N	AEFDBI	0.036496	0.04872	N	-0.845497523419425	0.12160	0.5910899	-1.03523553234501	0.09017	0.4463251	2.01061989582173E-4	0.05898	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.294	0.294	0.14997	0.500000	0.22270	1.748000	0.28453	0.228000	0.18124	0.241000	0.24758	0.006000	0.19429	0.006000	0.07323	0.0:0.9998:0.0:2.0E-4	6.492	0.21317	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3656.98	227	chr7	101004695	.	C	G	3656.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.820e-01;DP=4301;ExcessHet=0.0000;FS=2.062;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.90;ReadPosRankSum=-7.010e-01;SOR=0.575	GT:AD:DP:GQ:PL	0/0:221,0:221:99:0,120,1800	20	0	1	0
chr7	101006477	101006477	G	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon3:c.G14963T:p.C4988F,	.	.	423	1086	13	0	0	13	0.00594966	.	.	2826021	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	0.004	U	1.000	N	0.805	L	1.47	T	0.902	D	0.930	D	0.898	0.012	4.076	2.83	1.541	3.268	9.762	0.531	0.618071323826	.	0.00119808	0.0043	0	0	0	0	0.0007	0.0045	0.0098	0.0006209	96	154602	rs555137488	0.0008	0.0008	0.0006	0.0011	0.0094	0.0008	0.0008	0.0088	0.0086	3.166e-05	0.0004	0.0004	0	2.858e-05	0.0061	0.0003	0.0010	0.0094	0.0005	0.0005	0.0004	0.0006	0.0075	0.0004	0.0004	0.0055	0.0049	0.0001	0	0.0005	0.0017	0	9.418e-05	0	0.0003	0.0009	0.0075	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.003841	0.34414	U	0.000000	1	0.08975	N	1.87	0.49600	L	-5.93	0.99452	D	-7.14	0.94758	D	0.616	0.75742	0.902	0.95695	D	0.930	0.97676	D	8	0.027742267	0.00915	T	0.618071	0.96685	D	0.531	0.80247	.	.	0.582828786496	0.57955	0.4040606043396441	0.40322	.	.	0.411843717098	0.26711	T	0.067262	0.33158	T	0.133226	0.67674	D	0.42627	0.92939	D	0.121136840750695	0.14540	T	0.269973	0.04523	T	0.81543064	0.84914	0.725981	0.83814	0.81543064	0.84915	0.725981	0.83815	-9.377	0.70091	D	.	.	0.935	0.85467	P	.;.	.;.	2.446749	0.31499	18.76	0.61464251856208296	0.06715	0.26942	0.23137	N	AEFBI	0.149320	0.27339	N	-0.340929966810357	0.27607	1.516022	-0.452273794028015	0.23484	1.280957	4.11484181190949E-4	0.06899	0.553676	0.25195	0	0.588015	0.36545	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	2.83	2.83	0.32150	3.302000	0.51557	5.265000	0.48134	0.597000	0.34315	0.487000	0.26855	1.000000	0.68203	0.039000	0.14166	0.0:0.0:1.0:0.0	9.762	0.39704	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4121.11	34	chr7	101006477	.	G	T	4121.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.313e+00;DP=1027;ExcessHet=0.1072;FS=2.897;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=0.029;SOR=0.556	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1450	19	0	2	0
chr7	101031607	101031607	C	A	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C191A:p.A64E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.979	D	0.458	P	.	.	1.000	N	0.345	N	4.17	T	-0.978	T	0.006	T	0.128	-1.669	0.012	-1.8	-2.432	-5.771	7.128	0.145	0.000307874352979	.	.	.	.	.	.	.	.	.	.	.	.	.	rs761973973	3.634e-06	4.104e-06	2.855e-06	4.442e-06	5.633e-05	1.07e-06	7.7e-07	1.915e-05	1.086e-05	0	0	0	0	0	0	0	1.764e-05	5.633e-05	6.571e-06	6.566e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0	0.91255	D	.	.	.	0.979	0.59044	D	0.458	0.46341	P	.	.	.	.	1	0.08975	N	0	0.06538	N	4.17	0.02767	T	-0.38	0.13418	N	0.129	0.12341	-0.9777	0.35526	T	0.006	0.01944	T	9	0.09314597	0.16459	T	3.08E-4	0.00027	T	0.145	0.38592	0.297	0.26202	0.0297737177859	0.01360	0.01612252122412488	0.01568	.	.	0.293798089027	0.09479	T	0.017782	0.14448	T	-0.466553	0.00894	T	-0.727037	0.04462	T	0.101327414808018	0.12503	T	0.214779	0.02659	T	0.11806185	0.27823	0.13540822	0.32421	0.11806185	0.27823	0.13540822	0.32420	-3.889	0.22137	T	.	.	0.121	0.25199	B	.	.	-1.260568	0.00473	0.010	0.33198842831892555	0.01965	0.00066	0.00474	N	AEFBI	0.035985	0.04722	N	-1.84567987122775	0.00443	0.01904297	-2.05685805278225	0.00231	0.01019016	9.62459339351739E-4	0.08067	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	0.902	-1.8	0.07480	-3.329000	0.00565	-5.712000	0.01621	-2.768000	0.00193	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4802:0.0:0.5198	7.128	0.24659	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2633.08	42	chr7	101031607	.	C	A	2633.08	.	AC=2;AF=0.048;AN=42;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.51;SOR=1.581	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1237	20	1	0	0
chr7	101031852	101031852	G	A	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.G436A:p.D146N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.055	B	0.002	B	.	.	1.000	N	0	N	4.12	T	-0.899	T	0.004	T	0.026	-0.033	3.844	-1.6	-0.187	0.102	2.938	0.017	0.0018202583031	7.7e-05	.	1.648e-05	0	0	0	0	1.499e-05	0	6.059e-05	1.29e-05	2	154602	rs371869918	9.577e-06	9.577e-06	5.445e-06	1.375e-05	2.319e-05	5.56e-06	4.35e-06	5.31e-06	3.88e-06	0	0	0	0	0	0	9.892e-06	1.656e-05	2.319e-05	6.576e-06	6.568e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.519	0.07283	T	.	.	.	0.055	0.22733	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	4.12	0.02891	T	-0.39	0.13611	N	0.032	0.00825	-0.8995	0.48044	T	0.004	0.01365	T	9	0.044904232	0.03501	T	0.00182	0.03141	T	0.017	0.02790	.	.	0.0138822411134	0.00435	7.289559382807574E-4	0.00066	.	.	0.24266242981	0.03035	T	0.019119	0.15291	T	-0.516423	0.00461	T	-0.882728	0.00632	T	0.014417136272612	0.00290	T	0.39616	0.09972	T	0.026280316	0.01667	0.026029773	0.00672	0.026280316	0.01666	0.026029773	0.00672	-1.13	0.01155	T	.	.	0.086	0.10931	B	.	.	-0.157209	0.03316	0.577	0.31242077055126161	0.01750	0.00009	0.00143	N	AEFBI	0.021502	0.00964	N	-1.60768698272977	0.01226	0.05333949	-1.68418277469196	0.01208	0.05442813	1.97353634350858E-5	0.02871	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	0.801	-1.6	0.07977	-0.498000	0.06502	-3.653000	0.02629	-0.355000	0.05542	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.662:0.0:0.338:0.0	2.938	0.05464	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3676.98	42	chr7	101031852	.	G	A	3676.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.735;DP=1292;ExcessHet=0.0000;FS=2.450;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=-1.409e+00;SOR=0.839	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1237	20	0	1	0
chr7	101032450	101032450	C	T	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C1034T:p.P345L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.749	P	0.05	B	.	.	1.000	N	0.55	N	4.0	T	-0.886	T	0.006	T	0.036	-0.431	1.995	0.192	0.076	0.151	6.394	0.047	0.00111252147773	.	0.000599042	0.0003	0	0	0	0	4.502e-05	0	0.0020	0.0002458	38	154602	rs571365213	9.99e-05	9.987e-05	8.987e-05	0.0001	0.0010	8.648e-05	8.136e-05	0.0009	0.0008	8.962e-05	0	0	0	0	0	4.138e-05	0.0001	0.0010	5.916e-05	5.908e-05	5.144e-05	6.723e-05	0.0015	3.078e-05	2.211e-05	0.0007	0.0005	0	0	0	0	0	0	0	2.942e-05	0	0.0015	0.069	0.35537	T	.	.	.	0.749	0.43231	P	0.05	0.25278	B	.	.	.	.	1	0.08975	N	1.43	0.35840	L	4.0	0.03239	T	-0.33	0.12472	N	0.023	0.00407	-0.8860	0.49273	T	0.006	0.01907	T	9	0.009411782	0.00212	T	0.001113	0.01336	T	0.047	0.12962	0.194	0.10571	0.0920862733494	0.08535	0.011167358748364999	0.01076	.	.	0.228331297636	0.01847	T	0.018506	0.14904	T	-0.715303	0.00030	T	-0.824887	0.01356	T	0.0216823191405074	0.00873	T	0.363264	0.08416	T	0.025610741	0.01518	0.032516297	0.01998	0.025610741	0.01518	0.032516297	0.01998	-3.617	0.18103	T	.	.	0.123	0.25721	B	.	.	-0.213959	0.03021	0.460	0.30008950011797891	0.01620	0.01864	0.05751	N	AEFGBI	0.050175	0.08744	N	-1.19801433607488	0.05031	0.2283723	-1.34124503542775	0.03910	0.1833617	6.78658464410491E-5	0.04366	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	1.21	0.192	0.14415	-0.096000	0.11027	-3.063000	0.03094	-1.354000	0.01188	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2914:0.7086:0.0:0.0	6.394	0.20802	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	8969.98	42	chr7	101032450	.	C	T	8969.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.73;DP=3724;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.23;ReadPosRankSum=0.341;SOR=0.676	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,108,1237	20	0	1	0
chr7	101034026	101034026	G	T	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.G2610T:p.M870I,	.	.	436	1081	5	0	0	5	0.00230734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.001	B	0.001	B	.	.	1.000	N	0.345	N	4.49	T	-0.904	T	0.004	T	0.147	-0.786	0.714	-1.7	-0.225	-3.842	4.921	0.005	.	.	0.00239617	0.0015	9.61e-05	0.0002	0.0001	0	0	0.0022	0.0110	0.0013519	209	154602	rs542330663	0.0007	0.0007	0.0004	0.0010	0.0116	0.0007	0.0007	0.0110	0.0107	0	9.105e-05	0	0	0	0.0005	2.715e-06	0.0008	0.0116	0.0004	0.0004	0.0002	0.0006	0.0119	0.0003	0.0003	0.0094	0.0085	4.828e-05	0	0	0	0.0004	0	0	0	0	0.0119	0.793	0.03175	T	.	.	.	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.46	0.12951	N	4.49	0.02049	T	-0.2	0.10136	N	0.058	0.02964	-0.9044	0.47515	T	0.004	0.01435	T	9	0.0033895671	0.00059	T	.	.	.	0.005	0.00259	0.293	0.25560	0.0138822411134	0.00435	0.00965669003877455	0.00927	.	.	0.288035869598	0.08636	T	0.017574	0.14314	T	-0.705709	0.00034	T	-0.776091	0.02573	T	0.0044548981687799	0.00048	T	0.321068	0.06505	T	0.044918846	0.07262	0.058863923	0.10949	0.044918846	0.07262	0.058863923	0.10948	-3.155	0.11939	T	.	.	0.242	0.47632	B	.	.	-1.081295	0.00663	0.018	0.26402064642526379	0.01263	0.00040	0.00335	N	AEFBI	0.023003	0.01223	N	-1.71357215694324	0.00794	0.03433762	-1.80502343889296	0.00743	0.03312437	1.58845621645457E-5	0.02871	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	0.852	-1.7	0.07721	-3.170000	0.00633	-10.305000	0.00716	-1.301000	0.01244	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.318:0.682	4.921	0.13224	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1317.98	656	chr7	101034026	.	G	T	1317.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=14117;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.65;MQRankSum=0.00;QD=9.98;ReadPosRankSum=-2.110e-01;SOR=0.707	GT:AD:DP:GQ:PL	0/0:781,0:781:99:0,120,1800	20	0	1	0
chr7	101036967	101036967	C	A	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C5551A:p.P1851T,	.	.	413	1097	5	3	4	15	0.00498866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	0.205	N	4.01	T	-0.954	T	0.000	T	0.015	-1.835	0.009	-1.65	-2.299	-3.954	2.898	0.038	.	0.0143	0.0984425	0.0331	0.0531	0.0470	0.119	0.0235	0.0020	0.0404	0.1047	0.0196711	512	26028	rs146323653	0.0029	0.0038	0.0028	0.0030	0.0255	0.0028	0.0028	0.0246	0.0242	0.0238	0.0042	0	0.0174	0.0009	0.0028	0.0002	0.0087	0.0255	0.0013	0.0018	0.0013	0.0013	0.0067	0.0012	0.0011	0.0046	0.0039	0.0030	0	0.0012	0	0.0052	0.0011	0	7.383e-05	0.0020	0.0067	0.47	0.08483	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.215	0.00119	N	4.01	0.03208	T	-0.17	0.09627	N	0.013	0.00142	-0.9539	0.40292	T	0.000	0.00011	T	9	0.001913935	0.00026	T	.	.	.	0.038	0.09825	.	.	.	.	0.008167875960877372	0.00781	.	.	0.307297408581	0.11498	T	0.017686	0.14383	T	-0.848023	0.00003	T	-0.917049	0.00394	T	0.00526121026644924	0.00057	T	0.337066	0.07215	T	0.024168309	0.01222	0.036329627	0.03057	0.024168309	0.01222	0.036329627	0.03056	-5.758	0.44207	T	.	.	0.055	0.00368	B	.	.	-1.502060	0.00293	0.005	0.3020599618988527	0.01640	0.00015	0.00188	N	AEFGBI	0.023075	0.01237	N	-2.18235591645393	0.00084	0.003590284	-2.25569835555309	0.00084	0.003681959	0.00982018823274634	0.11918	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-1.65	0.07849	-3.557000	0.00482	-20.000000	0.00162	-1.599000	0.00895	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3143:0.4394:0.0:0.2462	2.898	0.05348	830	0.39242	.	.	.	.	.	rs146323653	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.02381	6645.98	510	chr7	101036967	.	C	A	6645.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.43;DP=11476;ExcessHet=0.0000;FS=0.545;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.14;MQRankSum=-3.771e+00;QD=12.59;ReadPosRankSum=0.491;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:633,0:633:99:.:.:0,120,1800	20	0	1	0
chr7	101036975	101036975	A	C	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.A5559C:p.E1853D,	.	.	416	1094	5	3	4	15	0.00500227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.023	B	0.012	B	.	.	1.000	N	0.345	N	4.25	T	-0.897	T	0.003	T	0.029	0.006	4.046	-1.13	-0.266	-2.311	3.858	0.005	.	0.0083	0.0972444	0.0329	0.0527	0.0470	0.119	0.0235	0.0020	0.0402	0.1030	0.0189796	494	26028	rs148675022	0.0019	0.0037	0.0019	0.0020	0.0170	0.0019	0.0018	0.0162	0.0159	0.0164	0.0022	0	0.0123	0.0004	0.0016	0.0001	0.0059	0.0170	0.0011	0.0018	0.0010	0.0011	0.0053	0.0009	0.0009	0.0034	0.0029	0.0024	0	0.0010	0	0.0046	0.0011	0	7.372e-05	0.0015	0.0053	0.279	0.15561	T	.	.	.	0.023	0.18885	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	1.075	0.27130	L	4.25	0.02564	T	-0.19	0.09965	N	0.014	0.00160	-0.8966	0.48331	T	0.003	0.00800	T	9	0.0023345947	0.00034	T	.	.	.	0.005	0.00259	0.114	0.02306	.	.	0.003600133997673742	0.00337	.	.	0.318828165531	0.13244	T	0.018853	0.15125	T	-0.797276	0.00008	T	-0.864555	0.00796	T	0.0040418192727935	0.00043	T	0.288571	0.05217	T	0.048784774	0.08559	0.0455507	0.06155	0.048784774	0.08559	0.0455507	0.06154	-7.579	0.58164	D	.	.	0.187	0.40344	B	.	.	-0.266440	0.02767	0.373	0.15931405405746954	0.00408	0.00495	0.02340	N	AEFGBI	0.061181	0.11677	N	-1.44277843029105	0.02274	0.1002479	-1.54095469140167	0.02039	0.0931966	6.31312032253946E-4	0.07505	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-1.13	0.09274	-2.775000	0.00847	-3.288000	0.02904	0.377000	0.20376	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.678:0.0:0.0:0.322	3.858	0.08490	830	0.39242	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.02381	6137.98	510	chr7	101036975	.	A	C	6137.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.183e+00;DP=11377;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.91;MQRankSum=-4.940e+00;QD=11.92;ReadPosRankSum=-5.360e-01;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:633,0:633:99:.:.:0,120,1800	20	0	1	0
chr7	101036980	101036980	C	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C5564G:p.T1855S,	.	.	415	1094	5	3	5	16	0.00500227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.886	P	0.126	B	.	.	1.000	N	0.345	N	4.34	T	-0.870	T	0.004	T	0.074	-0.451	1.911	-0.378	-0.088	-0.049	5.867	0.022	.	.	0.0974441	0.0326	0.0520	0.0470	0.1188	0.0235	0.0020	0.0402	0.1011	0.0189411	493	26028	rs141195508	0.0012	0.0036	0.0011	0.0012	0.0103	0.0011	0.0011	0.0097	0.0094	0.0091	0.0015	0	0.0088	0.0004	0.0011	7.293e-05	0.0033	0.0103	0.0009	0.0017	0.0009	0.0009	0.0050	0.0008	0.0007	0.0032	0.0027	0.0021	0	0.0010	0	0.0032	0.0007	0	5.897e-05	0.0010	0.0050	0.046	0.40573	D	.	.	.	0.886	0.48745	P	0.126	0.32692	B	.	.	.	.	1	0.08975	N	2.38	0.68558	M	4.34	0.02341	T	-0.26	0.11185	N	0.019	0.00279	-0.8695	0.50567	T	0.004	0.01400	T	9	0.002970755	0.00048	T	.	.	.	0.022	0.04323	0.118	0.02577	.	.	0.0033279495015064546	0.00310	.	.	0.313005208969	0.12361	T	0.016925	0.13896	T	-0.728087	0.00025	T	-0.777643	0.02526	T	0.0111646505528084	0.00163	T	0.273273	0.04638	T	0.028086957	0.02093	0.04039063	0.04356	0.028086957	0.02092	0.04039063	0.04355	-7.054	0.54427	T	.	.	0.125	0.26263	B	.	.	-0.481825	0.01927	0.162	0.18751851816912099	0.00603	0.01221	0.04330	N	AEFGBI	0.053237	0.09575	N	-1.00577024279366	0.08484	0.3979318	-1.18644816366495	0.06135	0.2943982	9.29109817510881E-4	0.08013	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-0.378	0.11875	-2.310000	0.01210	-3.435000	0.02789	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3073:0.6927:0.0:0.0	5.867	0.18031	830	0.39242	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.02381	5431.98	510	chr7	101036980	.	C	G	5431.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=9.62;DP=11355;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.67;MQRankSum=-6.065e+00;QD=11.02;ReadPosRankSum=-1.254e+00;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:633,0:633:99:.:.:0,120,1800	20	0	1	0
chr7	101036987	101036987	A	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.A5571G:p.I1857M,	.	.	414	1096	5	3	4	15	0.00499319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.002	B	0.001	B	.	.	1.000	N	-0.55	N	4.22	T	-0.918	T	0.004	T	0.107	-1.026	0.225	-0.746	-0.948	-3.598	4.446	0.017	.	.	0.095647	0.0315	0.0482	0.0468	0.1181	0.0235	0.0020	0.0391	0.0959	0.0185185	482	26028	rs529733229	0.0004	0.0028	0.0003	0.0005	0.0049	0.0004	0.0004	0.0043	0.0041	0.0021	0.0005	0	0.0049	0.0003	0.0002	1.441e-05	0.0009	0.0040	0.0008	0.0016	0.0008	0.0008	0.0039	0.0007	0.0006	0.0024	0.0019	0.0018	0	0.0007	0	0.0032	0.0006	0	5.9e-05	0.0010	0.0039	0.498	0.07797	T	.	.	.	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.895	0.01383	N	4.22	0.02640	T	-0.11	0.08653	N	0.007	0.00055	-0.9180	0.45824	T	0.004	0.01330	T	9	0.002025187	0.00029	T	.	.	.	0.017	0.02790	.	.	.	.	0.0045953391162681006	0.00432	.	.	0.289408802986	0.08836	T	0.017638	0.14358	T	-0.761262	0.00015	T	-0.839816	0.01101	T	0.00139843970367867	0.00014	T	0.256474	0.04006	T	0.033943307	0.03713	0.04277209	0.05172	0.033943307	0.03713	0.04277209	0.05172	-3.979	0.23488	T	.	.	0.075	0.05447	B	.	.	-1.288929	0.00448	0.009	0.16073283758156165	0.00417	0.00033	0.00296	N	AEFGBI	0.026552	0.02014	N	-1.81936807619775	0.00499	0.02149962	-1.87946331982856	0.00537	0.02382829	0.00107390509056506	0.08194	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-0.746	0.10535	-3.464000	0.00514	-20.000000	0.00162	-1.691000	0.00771	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5762:0.0:0.4238:0.0	4.446	0.11018	830	0.39242	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.02381	5137.98	510	chr7	101036987	.	A	G	5137.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=6.36;DP=11348;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.59;MQRankSum=-6.586e+00;QD=10.57;ReadPosRankSum=-3.881e+00;SOR=0.710	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:633,0:633:99:.:.:0,120,1800	20	0	1	0
chr7	101036988	101036988	G	C	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.G5572C:p.A1858P,	.	.	419	1091	5	3	4	15	0.00501596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.0	B	0.0	B	.	.	1.000	N	-0.695	N	4.15	T	-0.936	T	0.003	T	0.147	-0.768	0.764	-1.65	-2.401	-6.426	0.369	0.026	.	.	0.095647	0.0315	0.0482	0.0468	0.1180	0.0235	0.0020	0.0391	0.0957	0.0185569	483	26028	rs139009576	0.0004	0.0028	0.0003	0.0004	0.0045	0.0003	0.0003	0.0039	0.0037	0.0015	0.0004	0	0.0045	0.0002	0	9.906e-06	0.0007	0.0035	0.0008	0.0016	0.0007	0.0008	0.0039	0.0006	0.0006	0.0024	0.0019	0.0017	0	0.0006	0	0.0033	0.0006	0	5.92e-05	0.0010	0.0039	0.372	0.11478	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.95	0.00216	N	4.15	0.02815	T	0.05	0.06369	N	0.053	0.02462	-0.9360	0.43241	T	0.003	0.01059	T	9	0.0026809275	0.00041	T	.	.	.	0.026	0.05648	.	.	.	.	0.02903108957003057	0.02852	.	.	0.296740233898	0.09916	T	0.017693	0.14390	T	-0.711379	0.00031	T	-0.768163	0.02829	T	0.00329269740675991	0.00035	T	0.304969	0.05824	T	0.043084126	0.06653	0.050497707	0.07939	0.043084126	0.06652	0.050497707	0.07939	-2.712	0.07404	T	.	.	0.087	0.11027	B	.	.	-0.868193	0.00980	0.039	0.24002919280004392	0.01041	0.00011	0.00159	N	AEFGBI	0.017581	0.00471	N	-2.0766285698698	0.00144	0.006166915	-2.15095754879182	0.00144	0.006337654	0.0149628824962402	0.12659	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-1.65	0.07849	-3.812000	0.00405	-4.376000	0.02188	-2.974000	0.00147	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.241:0.3094:0.2397:0.2099	0.369	0.00350	830	0.39242	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.02381	5050.98	510	chr7	101036988	.	G	C	5050.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.47;DP=11347;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.58;MQRankSum=-6.762e+00;QD=10.41;ReadPosRankSum=-3.966e+00;SOR=0.706	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:633,0:633:99:.:.:0,120,1800	20	0	1	0
chr7	101037005	101037005	T	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.T5589G:p.S1863R,	.	.	416	1094	5	3	4	15	0.00500227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.797	P	0.321	B	.	.	1.000	N	0	N	4.23	T	-0.889	T	0.005	T	0.099	-0.340	2.389	0.046	0.115	0.092	.	0.033	.	0.0007	.	0.0208	0.0334	0.0332	0.0858	0.0159	0.0015	0.0301	0.0546	7.68e-05	2	26028	rs144965214	0.0002	0.0007	0.0002	0.0003	0.0032	0.0002	0.0002	0.0027	0.0026	0.0004	0.0003	0	0.0032	0.0001	0	9e-07	0.0002	0.0021	0.0004	0.0011	0.0004	0.0003	0.0019	0.0003	0.0003	0.0009	0.0006	0.0009	0	0.0002	0	0.0016	0.0002	0	2.947e-05	0.0010	0.0019	0.37	0.11550	T	.	.	.	0.797	0.44809	P	0.321	0.41760	B	.	.	.	.	1	0.08975	N	1.59	0.40313	L	4.23	0.02616	T	-0.77	0.21429	N	0.024	0.00445	-0.8886	0.49055	T	0.005	0.01615	T	8	0.0044896007	0.00092	T	.	.	.	0.033	0.08068	0.194	0.10571	.	.	0.01233914984188236	0.01192	.	.	0.299895703793	0.10385	T	0.017757	0.14435	T	-0.682001	0.00047	T	-0.73945	0.03914	T	0.00939915424853505	0.00120	T	0.340266	0.07351	T	0.10370106	0.24512	0.1283763	0.30886	0.10370106	0.24512	0.1283763	0.30885	-7.069	0.54537	T	.	.	0.241	0.47524	B	.	.	0.527789	0.08965	5.746	0.33326692460308971	0.01979	0.01430	0.04814	N	AEFGBI	0.064454	0.12515	N	-1.02251595279122	0.08138	0.3805158	-1.20536102117136	0.05823	0.2785533	0.00121046594272654	0.08334	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.046	0.046	0.13572	0.013000	0.13206	-6.532000	0.01373	0.335000	0.19678	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3490.98	510	chr7	101037005	.	T	G	3490.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=9.75;DP=11312;ExcessHet=0.0000;FS=0.618;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.33;MQRankSum=-9.616e+00;QD=7.76;ReadPosRankSum=-6.877e+00;SOR=0.774	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:633,0:633:99:.:.:0,120,1800	20	0	1	0
chr7	101037014	101037014	C	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C5598G:p.S1866R,	.	.	415	1096	6	3	2	14	0.00544465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.797	P	0.093	B	.	.	1.000	N	0.46	N	4.23	T	-0.967	T	0.004	T	0.098	-2.876	0.001	-1.65	-4.132	-1.802	0.291	0.029	.	.	0.0449281	0.0050	0.0090	0.0081	0.0244	0.0021	0.0004	0.0056	0.0112	0.008683	226	26028	rs201207919	0.0002	0.0007	0.0002	0.0002	0.0031	0.0002	0.0002	0.0026	0.0024	0.0003	0.0002	0	0.0031	7.959e-05	0	2.751e-06	8.734e-05	0.0020	0.0003	0.0011	0.0003	0.0003	0.0023	0.0002	0.0002	0.0010	0.0007	0.0008	0	0.0002	0	0.0006	0.0002	0	1.813e-05	0.0014	0.0023	0.007	0.59928	D	.	.	.	0.797	0.44809	P	0.093	0.30104	B	.	.	.	.	1	0.08975	N	2.295	0.65404	M	4.23	0.02616	T	-0.65	0.18877	N	0.038	0.01203	-0.9674	0.37733	T	0.004	0.01261	T	9	0.0030860305	0.00051	T	.	.	.	0.029	0.06676	0.264	0.20946	0.0297737177859	0.01360	0.005365800952421269	0.00507	.	.	0.329270333052	0.14824	T	0.017645	0.14358	T	-0.684915	0.00045	T	-0.747215	0.03595	T	0.0134149078318583	0.00243	T	0.412159	0.10706	T	0.078873836	0.17988	0.07059529	0.15018	0.078873836	0.17988	0.07059529	0.15018	-5.575	0.42563	T	.	.	0.343	0.56098	A	.	.	-0.584777	0.01613	0.110	0.092152076708719846	0.00089	0.00097	0.00633	N	AEFGBI	0.034789	0.04369	N	-2.08138097362421	0.00141	0.006020611	-2.26102061448563	0.00081	0.003577088	0.993921298330382	0.33413	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-1.65	0.07849	-4.764000	0.00219	-3.044000	0.03112	-1.910000	0.00516	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1985:0.2707:0.1984:0.3324	0.291	0.00241	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2675.98	510	chr7	101037014	.	C	G	2675.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.20;DP=11348;ExcessHet=0.0000;FS=0.656;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.35;MQRankSum=-1.180e+01;QD=6.12;ReadPosRankSum=-7.504e+00;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:633,0:633:99:.:.:0,120,1800	20	0	1	0
chr7	101037015	101037015	A	C	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.A5599C:p.T1867P,	.	.	417	942	154	0	9	163	0.0755643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.985	D	0.429	B	.	.	1.000	N	0.895	L	4.26	T	-0.928	T	0.007	T	0.195	-0.397	2.141	-1.13	-0.266	1.153	3.858	0.088	.	.	0.048123	0.0050	0.0087	0.0080	0.0242	0.0021	0.0004	0.0056	0.0112	0.0093745	244	26028	rs201970250	0.0002	0.0003	0.0001	0.0002	0.0029	0.0002	0.0002	0.0024	0.0023	0.0002	0.0002	0	0.0029	3.966e-05	0	0	8.722e-05	0.0020	0.0002	0.0006	0.0002	0.0002	0.0013	0.0001	0.0001	0.0005	0.0003	0.0005	0	0.0002	0	0	0.0002	0	1.594e-05	0	0.0013	0.229	0.18371	T	.	.	.	0.985	0.61118	D	0.429	0.45365	B	.	.	.	.	1	0.08975	N	2.455	0.71248	M	4.26	0.02538	T	-1.07	0.27876	N	0.128	0.12198	-0.9277	0.44473	T	0.007	0.02518	T	9	0.003565222	0.00064	T	.	.	.	0.088	0.25558	.	.	0.0611884634855	0.05136	0.002191109293456971	0.00203	.	.	0.351847529411	0.18193	T	0.016686	0.13743	T	-0.60438	0.00137	T	-0.631531	0.10299	T	0.0159473787907998	0.00378	T	0.261374	0.04213	T	0.15294392	0.34692	0.075604185	0.16662	0.15294392	0.34692	0.075604185	0.16661	-6.419	0.49657	T	.	.	0.120	0.24800	B	.	.	0.701578	0.10706	7.397	0.14541750727747688	0.00324	0.01581	0.05150	N	AEFGBI	0.143396	0.26609	N	-0.779157462639097	0.13853	0.6855809	-1.02874192314484	0.09156	0.453968	4.52875406325812E-4	0.07036	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-1.13	0.09274	0.592000	0.23685	-0.123000	0.11700	0.377000	0.20376	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.678:0.0:0.0:0.322	3.858	0.08490	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.09524	5841.15	510	chr7	101037015	.	A	AC,C	5841.15	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=-2.073e+00;DP=11424;ExcessHet=0.6776;FS=0.857;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=55.12;MQRankSum=-1.246e+01;QD=1.95;ReadPosRankSum=4.83;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:633,0,0:633:99:.:.:0,120,1800,120,1800,1800	17	0	3	0
chr7	101037120	101037120	G	C	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.G5704C:p.A1902P,	.	.	0	224	1	0	1	2	0.00222717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.002	B	0.001	B	.	.	1.000	N	0	N	4.15	T	-0.936	T	0.004	T	0.119	-0.562	1.463	-2.38	-2.877	0.070	0.582	0.028	0.000372868786388	.	.	.	.	.	.	.	.	.	.	.	.	.	rs534983270	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0017	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.146	0.25055	T	.	.	.	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	4.15	0.02815	T	-0.53	0.16393	N	0.092	0.07125	-0.9358	0.43272	T	0.004	0.01400	T	9	0.04352027	0.03210	T	3.73E-4	0.00054	T	0.028	0.06331	.	.	0.0297737177859	0.01360	0.0035618229797968184	0.00333	.	.	0.377167761326	0.21854	T	0.018594	0.14961	T	-0.390221	0.02681	T	-0.798302	0.01945	T	0.0415485472037037	0.03973	T	0.30237	0.05722	T	0.051522315	0.09473	0.055376988	0.09701	0.051522315	0.09472	0.055376988	0.09700	-1.929	0.02924	T	.	.	0.107	0.19998	B	.	.	-0.528057	0.01779	0.136	0.28701115715954134	0.01487	0.01144	0.04144	N	AEFBCI	0.102213	0.20510	N	-1.91682976361911	0.00317	0.01361774	-2.01030059452484	0.00291	0.01286151	0.049397000236357	0.14803	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	1.19	-2.38	0.06243	-1.245000	0.03010	-12.170000	0.00545	-0.485000	0.05058	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3493:0.1789:0.2944:0.1774	0.582	0.00667	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	58.33	510	chr7	101037120	.	G	C	58.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-4.963e+00;DP=10967;ExcessHet=0.0000;FS=2.450;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=58.79;MQRankSum=-2.831e+01;QD=0.07;ReadPosRankSum=-3.647e+00;SOR=1.113	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:633,0:633:99:.:.:0,120,1800	19	0	1	1
chr7	101039191	101039191	G	A	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.G7775A:p.S2592N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.008	B	0.003	B	.	.	1.000	N	0.895	L	4.23	T	-0.900	T	0.007	T	0.02	-0.931	0.377	-0.538	-0.184	-3.509	6.195	0.011	0.00108012292015	.	.	8.255e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs763523521	4.106e-06	4.104e-06	4.085e-06	4.127e-06	0.0002	1.48e-06	9.7e-07	8.4e-07	5.7e-07	0	0	0	0	0	0.0002	3.598e-06	1.656e-05	0	6.574e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.604	0.05567	T	.	.	.	0.008	0.14655	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	1.485	0.37223	L	4.23	0.02616	T	-0.46	0.14978	N	0.027	0.00571	-0.8999	0.48003	T	0.007	0.02282	T	9	0.044188738	0.03349	T	0.00108	0.01263	T	0.011	0.01250	0.138	0.04187	0.0138822411134	0.00435	2.760679278859399E-4	0.00024	.	.	0.315702915192	0.12770	T	0.017389	0.14198	T	-0.44435	0.01219	T	-0.876055	0.00688	T	0.0451930250043258	0.04637	T	0.350365	0.07800	T	0.029313276	0.02406	0.046650846	0.06548	0.029313276	0.02405	0.046650846	0.06548	-6.845	0.52893	T	.	.	0.138	0.30049	B	.	.	-0.687639	0.01350	0.075	0.22228500098026707	0.00884	0.00207	0.01180	N	AEFBI	0.050295	0.08777	N	-1.3810756620859	0.02815	0.1248704	-1.50144186270384	0.02333	0.10716	9.76260641502424E-5	0.04910	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.673	-0.538	0.11275	-2.029000	0.01518	-10.218000	0.00726	0.348000	0.19902	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3192:0.6808:0.0	6.195	0.19759	835	0.38313	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	10586.98	42	chr7	101039191	.	G	A	10586.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.079e+00;DP=6322;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.73;ReadPosRankSum=-1.325e+00;SOR=0.698	GT:AD:DP:GQ:PL	0/0:286,0:286:99:0,120,1800	20	0	1	0
chr7	101039473	101039473	C	A	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C8057A:p.T2686N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.115	B	0.006	B	.	.	1.000	N	0.695	N	4.41	T	-0.901	T	0.005	T	0.074	0.101	4.546	-0.963	-0.334	0.518	5.038	0.041	0.00162545270169	.	.	1.649e-05	0	0	0	0	1.5e-05	0	6.068e-05	1.29e-05	2	154602	rs770479083	5.481e-06	5.473e-06	1.363e-06	9.64e-06	8.146e-05	2.36e-06	1.7e-06	3.778e-05	2.67e-05	0	0	0	0	0	0	9.001e-07	0	8.146e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.31682	T	.	.	.	0.115	0.26429	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	2.125	0.59049	M	4.41	0.02196	T	-1.04	0.27259	N	0.059	0.03069	-0.9013	0.47857	T	0.005	0.01578	T	9	0.058129013	0.06787	T	0.001625	0.02625	T	0.041	0.10877	0.149	0.05238	0.0138822411134	0.00435	7.716736871859395E-4	0.00071	.	.	0.254687875509	0.04278	T	0.017708	0.14403	T	-0.407792	0.02056	T	-0.722912	0.04656	T	0.0515401577520371	0.05769	T	0.476352	0.14285	T	0.06500505	0.13849	0.06751324	0.13977	0.06500505	0.13848	0.06751324	0.13977	-8.734	0.65968	D	.	.	0.108	0.20313	B	.	.	1.051206	0.14322	10.90	0.39660372291285917	0.02750	0.01023	0.03844	N	AEFBI	0.047386	0.07973	N	-1.53923695277019	0.01598	0.06985501	-1.63549459218533	0.01453	0.06571143	1.0635020245165E-4	0.05123	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.13	-0.963	0.09802	0.944000	0.28641	-4.118000	0.02332	0.311000	0.19140	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.0:0.4015:0.0:0.5985	5.038	0.13783	835	0.38313	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	9020.98	42	chr7	101039473	.	C	A	9020.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.330e-01;DP=6519;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.74;ReadPosRankSum=-9.100e-01;SOR=0.733	GT:AD:DP:GQ:PL	0/0:286,0:286:99:0,120,1800	20	0	1	0
chr7	101039818	101039818	C	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C8402G:p.P2801R,	.	.	428	1091	3	0	0	3	0.001373	.	.	3379407	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.24	T	0.994	D	0.937	D	.	.	1.000	N	0.695	N	4.57	T	-0.929	T	0.010	T	0.074	-0.290	2.614	-0.989	-0.359	-0.428	4.029	0.045	0.000957552015421	.	.	.	.	.	.	.	.	.	.	0.0040341	105	26028	rs1004398115	3.454e-06	0.0029	2.749e-06	4.165e-06	3.628e-06	1.01e-06	7.4e-07	8.5e-07	5.7e-07	0	0	3.912e-05	0	0	0	3.628e-06	0	0	0.0002	0.0075	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0002	0.0005	0	0.0003	0	0.0002	0	0	6.025e-05	0	0.0004	0.024	0.47745	D	.	.	.	0.994	0.66517	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	2.38	0.68558	M	4.57	0.01917	T	-1.58	0.38151	N	0.101	0.08366	-0.9294	0.44227	T	0.010	0.03856	T	9	0.18032071	0.33210	T	9.58E-4	0.00980	T	0.045	0.12272	0.196	0.10839	0.110078149338	0.10416	0.0014453802351999043	0.00133	.	.	0.246509730816	0.03409	T	0.033466	0.22927	T	-0.325489	0.06458	T	-0.705319	0.05540	T	0.118476174771786	0.14280	T	0.450755	0.12737	T	0.047618616	0.08168	0.05372311	0.09104	0.047618616	0.08167	0.05372311	0.09103	-6.882	0.53166	T	.	.	0.175	0.38372	B	.	.	1.157688	0.15464	11.87	0.31560487101999807	0.01785	0.00516	0.02410	N	AEFBI	0.041427	0.06297	N	-1.00578522340815	0.08482	0.3979146	-1.26687851502205	0.04886	0.2315516	1.0614227553124E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.989	0.09718	1.165000	0.31432	-11.132000	0.00632	0.305000	0.19019	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.577:0.2437:0.1793	4.029	0.09186	835	0.38313	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	966.98	42	chr7	101039818	.	C	G	966.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=6158;ExcessHet=0.0000;FS=4.892;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.10;MQRankSum=-2.404e+01;QD=1.34;ReadPosRankSum=-8.864e+00;SOR=1.128	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:286,0:286:99:.:.:0,120,1800	20	0	1	0
chr7	101039821	101039821	C	T	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C8405T:p.T2802I,	.	.	.	.	.	.	.	.	.	.	.	3379410	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.25	T	0.984	D	0.86	P	.	.	1.000	N	-0.345	N	4.57	T	-0.987	T	0.006	T	0.056	-0.234	2.873	-2.2	-1.480	-0.228	1.490	0.116	0.000810206679381	.	.	.	.	.	.	.	.	.	.	0.0039573	103	26028	rs1476531915	3.112e-05	0.0019	2.753e-05	3.475e-05	0.0002	2.373e-05	2.118e-05	2.448e-05	1.395e-05	9.238e-05	6.8e-05	0.0001	7.617e-05	1.898e-05	0.0002	2.361e-05	8.443e-05	0	0.0001	0.0060	0.0001	0.0002	0.0005	8.836e-05	7.279e-05	0.0002	0.0002	0.0004	0	0.0001	0	0	0	0	3.096e-05	0	0.0005	0.295	0.14743	T	.	.	.	0.984	0.60733	D	0.86	0.61233	P	.	.	.	.	1	0.08975	N	1.95	0.52479	M	4.57	0.01917	T	-1.22	0.30964	N	0.019	0.00279	-0.9873	0.33273	T	0.006	0.02018	T	9	0.11276281	0.21161	T	8.1E-4	0.00649	T	0.116	0.32463	0.162	0.06618	0.0297737177859	0.01360	0.0020233505516249503	0.00187	.	.	0.279875069857	0.07474	T	0.017887	0.14518	T	-0.387816	0.02779	T	-0.794847	0.02034	T	0.0877820374227744	0.10952	T	0.318868	0.06391	T	0.023058346	0.01014	0.028823176	0.01156	0.023058346	0.01014	0.028823176	0.01156	-1.811	0.02542	T	.	.	0.112	0.22098	B	.	.	-0.470622	0.01962	0.169	0.59100985063581568	0.06145	0.00511	0.02393	N	AEFBI	0.048670	0.08329	N	-1.25154859993288	0.04279	0.1928245	-1.48585342014424	0.02460	0.1131742	3.46201242607147E-4	0.06626	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-2.2	0.06601	-0.149000	0.10189	-5.076000	0.01859	-1.801000	0.00624	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2013:0.4434:0.1988:0.1565	1.490	0.02307	835	0.38313	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	180.98	42	chr7	101039821	.	C	T	180.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=6.10;DP=6144;ExcessHet=0.0000;FS=4.034;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.22;MQRankSum=-2.298e+01;QD=0.26;ReadPosRankSum=-8.541e+00;SOR=1.069	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:286,0:286:99:.:.:0,120,1800	20	0	1	0
chr7	101039839	101039839	C	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C8423G:p.T2808R,	.	.	426	1093	2	1	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.898	P	0.177	B	.	.	1.000	N	0	N	4.41	T	-0.946	T	0.001	T	0.049	-1.777	0.010	-1.36	-4.427	-2.205	3.828	0.044	.	0.0102	0.00738818	0.0028	0.0310	0.0011	0	0	4.497e-05	0.0022	0	0.0025679	397	154602	rs116593362	0.0009	0.0009	0.0010	0.0008	0.0330	0.0008	0.0008	0.0314	0.0308	0.0330	0.0013	0	0	1.873e-05	0.0009	1.892e-05	0.0017	0.0001	0.0088	0.0087	0.0091	0.0085	0.0312	0.0084	0.0082	0.0297	0.0292	0.0312	0	0.0026	0	0	0	0	9.036e-05	0.0064	0	0.533	0.06957	T	.	.	.	0.898	0.49442	P	0.177	0.35687	B	.	.	.	.	1	0.08975	N	-0.69	0.01958	N	4.41	0.02196	T	-1.01	0.26639	N	0.046	0.01825	-0.9457	0.41698	T	0.001	0.00287	T	9	0.0028049052	0.00044	T	.	.	.	0.044	0.11924	.	.	0.0138822411134	0.00435	0.00206185436398436	0.00191	.	.	0.251407653093	0.03917	T	0.016984	0.13935	T	-0.759383	0.00015	T	-0.839203	0.01111	T	0.0146952112187406	0.00305	T	0.267973	0.04452	T	0.046337493	0.07737	0.0517961	0.08407	0.046337493	0.07737	0.0517961	0.08407	0.428	0.00228	T	.	.	0.106	0.19559	B	.	.	-0.598567	0.01576	0.105	0.26373795685045082	0.01260	0.00029	0.00276	N	AEFBI	0.024806	0.01596	N	-2.32826429680819	0.00039	0.001683964	-2.49341791897005	0.00024	0.001057307	0.980224609754451	0.30112	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.679	-1.36	0.08610	0.009000	0.13117	-6.475000	0.01388	-1.722000	0.00727	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4234:0.2196:0.357	3.828	0.08377	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	8788.98	42	chr7	101039839	.	C	G	8788.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.40;DP=6159;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.34;ReadPosRankSum=0.519;SOR=0.698	GT:AD:DP:GQ:PL	0/0:286,0:286:99:0,120,1800	20	0	1	0
chr7	101040710	101040714	AACTT	-	exonic	MUC17	.	stopgain	MUC17:NM_001040105:exon3:c.9294_9298del:p.T3099*,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.124e-05	0	8.645e-05	0	0	6e-05	0	0	3.84e-05	1	26028	rs773870537	2.669e-05	2.668e-05	2.043e-05	3.301e-05	0.0010	1.998e-05	1.755e-05	0.0005	0.0003	8.996e-05	2.246e-05	0	0	0	0.0010	1.529e-05	9.938e-05	6.958e-05	6.577e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	13908.94	42	chr7	101040709	.	CAACTT	C	13908.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.740e-01;DP=5499;ExcessHet=0.0000;FS=1.090;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=0.00;QD=19.08;ReadPosRankSum=2.07;SOR=0.757	GT:AD:DP:GQ:PL	0/0:286,0:286:99:0,120,1800	20	0	1	0
chr7	101041744	101041744	C	T	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C10328T:p.A3443V,	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.998	D	0.986	D	.	.	1.000	N	0.345	N	4.51	T	-0.922	T	0.009	T	0.098	0.685	7.661	-0.18	-0.083	0.494	5.240	0.025	0.000630210962224	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1187838914	8.893e-06	8.893e-06	8.168e-06	9.626e-06	0.0003	4.96e-06	3.82e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	9.892e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	.	.	.	0.998	0.73220	D	0.986	0.76916	D	.	.	.	.	1	0.08975	N	1.95	0.52479	M	4.51	0.02015	T	-0.4	0.13805	N	0.035	0.01004	-0.9218	0.45307	T	0.009	0.03359	T	9	0.13321212	0.25353	T	6.3E-4	0.00319	T	0.025	0.05312	.	.	0.0297737177859	0.01360	0.008620447237479534	0.00826	.	.	0.174514055252	0.00054	T	0.019119	0.15291	T	-0.320061	0.06892	T	-0.697522	0.05962	T	0.187659338116646	0.19706	T	0.335866	0.07168	T	0.0352521	0.04114	0.045473795	0.06126	0.0352521	0.04113	0.045473795	0.06126	-6.784	0.52440	T	.	.	0.153	0.33913	B	.	.	0.963806	0.13404	9.911	0.92448120361108388	0.21872	0.02509	0.07002	N	AEFBCI	0.039525	0.05754	N	-0.73908078957141	0.14931	0.7480895	-0.994381378679066	0.09911	0.4958878	9.64892687560604E-5	0.04910	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.882	-0.18	0.12643	1.066000	0.30215	-0.146000	0.11468	0.328000	0.19510	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.7586:0.0:0.2414	5.240	0.14784	835	0.38313	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	9461.98	42	chr7	101041744	.	C	T	9461.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.939e+00;DP=2340;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=0.653;SOR=0.693	GT:AD:DP:GQ:PL	0/0:286,0:286:99:0,120,1800	20	0	1	0
chr7	101048017	101048017	G	T	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon4:c.G12437T:p.R4146L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.029	B	0.001	B	.	.	1.000	N	0.55	N	4.62	T	-0.902	T	0.004	T	0.211	0.168	4.905	-2.3	-0.466	-0.608	4.327	0.028	0.00113522000299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.376e-06	1.368e-06	0	2.767e-06	2.358e-05	2.3e-07	9e-08	3.91e-06	1.47e-06	0	0	0	0	0	0	0	0	2.358e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	.	.	.	0.029	0.19866	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	4.62	0.01834	T	-0.45	0.14782	N	0.124	0.11626	-0.9021	0.47771	T	0.004	0.01159	T	9	0.14606613	0.27698	T	0.001135	0.01385	T	0.028	0.06331	0.455	0.51938	0.0482279557977	0.04254	0.3469326934906771	0.34607	.	.	0.240088433027	0.02799	T	0.018146	0.14677	T	-0.330138	0.06102	T	-0.711997	0.05193	T	0.0419892803615075	0.04054	T	0.40416	0.10358	T	0.04751872	0.08134	0.05269733	0.08732	0.04751872	0.08134	0.05269733	0.08731	-2.496	0.05754	T	.	.	0.116	0.23325	B	.	.	-0.737151	0.01237	0.063	0.30361541991836349	0.01657	0.00085	0.00571	N	AEFDBI	0.026103	0.01901	N	-1.51825856441941	0.01729	0.07571774	-1.58052722774108	0.01774	0.08075041	1.76153169276707E-4	0.05786	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	3.03	-2.3	0.06399	-0.316000	0.08112	-3.165000	0.03006	-0.922000	0.02193	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1901:0.0:0.4094:0.4005	4.327	0.10484	835	0.38313	EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1365.98	38	chr7	101048017	.	G	T	1365.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.585;DP=851;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.58;ReadPosRankSum=-1.256e+00;SOR=0.698	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr7	101196010	101196010	T	A	exonic	MOGAT3	.	nonsynonymous SNV	MOGAT3:NM_178176:exon7:c.A962T:p.Q321L,	.	.	430	1058	29	5	0	39	0.0180974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.055	B	0.055	B	0.995	N	1.000	N	1.81	L	-3.31	D	-0.256	T	0.611	D	0.271	1.004	9.100	-0.26	-0.298	1.059	4.117	0.201	.	0.0047	0.00559105	0.0049	0.0014	0.0010	0	0.0011	0.0040	0.0113	0.0167	0.0046895	725	154602	rs139545520	0.0060	0.0060	0.0057	0.0063	0.0172	0.0059	0.0058	0.0164	0.0161	0.0012	0.0012	0.0018	2.519e-05	0.0013	0.0121	0.0060	0.0052	0.0172	0.0036	0.0036	0.0038	0.0034	0.0135	0.0033	0.0032	0.0109	0.0099	0.0012	0	0.0029	0.0023	0.0004	0.0008	0.0034	0.0052	0.0057	0.0135	0.004	0.65419	D	0.02	0.58613	D	0.055	0.22733	B	0.055	0.25995	B	0.994952	0.08005	N	0.997774	1	0.08975	N	.	.	.	-3.31	0.93835	D	-4.07	0.74661	D	0.199	0.21969	-0.2563	0.76189	T	0.611	0.86237	D	10	0.013748169	0.00291	T	.	.	.	0.201	0.48592	.	.	0.612494621148	0.60937	0.4942641162674118	0.49347	0.223459416139	0.24871	0.247193336487	0.03478	T	0.053825	0.29552	T	-0.268907	0.11878	T	-0.146069	0.59590	T	0.0301053931315479	0.02005	T	0.749125	0.37025	T	0.5341683	0.69067	0.54813784	0.73877	0.5341683	0.69068	0.54813784	0.73877	-8.031	0.61281	D	.	.	0.126	0.26576	B	.	.	2.149235	0.27375	17.44	0.92101801896154079	0.21453	0.25130	0.22606	N	AEFDBHI	0.088028	0.17846	N	-0.829934811715854	0.12549	0.6124076	-0.921232911203059	0.11593	0.5915805	0.176825090198372	0.17815	0.514905	0.20481	0	0.573888	0.26702	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	4.96	-0.26	0.12326	1.822000	0.38690	1.107000	0.24123	0.650000	0.52971	0.011000	0.18532	0.627000	0.25846	0.221000	0.22489	0.0:0.3213:0.1812:0.4976	4.117	0.09556	878	0.29785	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1283.98	122	chr7	101196010	.	T	A	1283.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.178e+00;DP=834;ExcessHet=0.0000;FS=2.312;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.52;ReadPosRankSum=-1.488e+00;SOR=0.869	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1385	20	0	1	0
chr7	101210137	101210137	C	T	exonic	PLOD3	.	nonsynonymous SNV	PLOD3:NM_001084:exon15:c.G1639A:p.E547K,	Lysyl hydroxylase 3 deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.223	B	0.023	B	0.001	D	0.972	D	1.995	M	-1.8	D	-0.317	T	0.407	T	0.502	2.694	14.97	3.76	2.171	1.957	9.989	0.372	0.0343344740907	.	.	3.173e-05	0	0	0.0002	0	0	0	9.513e-05	1.94e-05	3	154602	rs557730054	8.245e-06	8.209e-06	1.093e-05	5.53e-06	0.0002	4.4e-06	3.47e-06	4.928e-05	3.179e-05	0	0	0	0.0001	0	0.0002	2.705e-06	1.663e-05	2.352e-05	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.64	0.05002	T	0.173	0.30143	T	0.184	0.29209	B	0.023	0.19966	B	0.000962	0.40836	D	0.157726	0.971873	0.38903	D	1.79	0.46772	L	-1.8	0.83893	D	-1.09	0.28290	N	0.339	0.38027	-0.3168	0.74511	T	0.407	0.75635	T	10	0.2069689	0.36976	T	0.034334	0.55607	D	0.372	0.69102	0.419	0.46036	0.884155090706	0.88301	0.6769475058907666	0.67633	0.155923579576	0.17597	0.666646182537	0.62359	T	0.269341	0.64153	T	-0.143067	0.29403	T	-0.173982	0.57079	T	0.17371000149946	0.18829	T	0.819518	0.47762	T	0.16991344	0.37535	0.103196494	0.24755	0.16991344	0.37535	0.103196494	0.24754	-6.775	0.52373	T	0.15105447194695118	0.17792	0.073	0.04847	B	.	.	3.152801	0.42685	21.6	0.99736854242939288	0.83192	0.94092	0.60088	D	AEFDBI	0.314451	0.41931	N	-0.0349648210324888	0.40275	2.389149	0.066438603771538	0.42874	2.600969	0.0326179359667938	0.14063	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.71	3.76	0.42368	1.712000	0.37560	2.552000	0.33269	0.524000	0.24156	0.845000	0.30364	0.990000	0.31317	0.709000	0.34421	0.0:0.7936:0.2063:0.0	9.989	0.41030	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	686.98	35	chr7	101210137	.	C	T	686.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.625;DP=774;ExcessHet=0.0000;FS=2.347;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.96;ReadPosRankSum=0.718;SOR=0.643	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1029	20	0	1	0
chr7	101234346	101234346	A	G	exonic	CLDN15	.	nonsynonymous SNV	CLDN15:NM_014343:exon2:c.T314C:p.I105T	.	.	.	.	.	.	.	.	.	.	.	2208911	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.65	P	0.597	P	0.523	N	1.000	N	2.25	M	-2.36	D	0.163	D	0.753	D	0.534	3.802	19.30	5.35	2.020	3.778	13.299	0.552	0.140807215605	7.7e-05	0.000199681	9.971e-05	0	0.0002	0.0005	0	4.538e-05	0	0.0002	9.06e-05	14	154602	rs146377590	3.356e-05	3.352e-05	3.407e-05	3.303e-05	0.0003	2.569e-05	2.314e-05	0.0002	0.0001	0	0.0001	0	0.0003	0	0.0002	1.169e-05	4.969e-05	0.0002	5.263e-05	5.253e-05	2.574e-05	8.075e-05	0.0002	2.56e-05	1.832e-05	2.262e-05	9.08e-06	4.824e-05	0	0.0001	0	0.0002	9.436e-05	0	1.471e-05	0	0.0002	0.003	0.68238	D	0.006	0.70582	D	0.65	0.40644	P	0.597	0.50647	P	0.522918	0.11721	N	0.786532	1	0.08975	N	2.035	0.55589	M	-2.36	0.88143	D	-3.83	0.72120	D	0.602	0.62018	0.163	0.85274	D	0.753	0.91578	D	10	0.19116583	0.34791	T	0.140807	0.82325	D	0.552	0.81485	.	.	0.916389879554	0.91555	0.7943608192256201	0.79389	0.844967140893	0.68244	0.327381849289	0.14539	T	0.818102	0.95523	D	-0.125132	0.32286	T	-0.0975096	0.63590	T	0.226388797163963	0.21778	T	0.710329	0.34232	T	0.3431701	0.56531	0.29755294	0.55789	0.3431701	0.56531	0.29755294	0.55788	-7.499	0.57603	T	.	.	0.167	0.36850	B	.;.;.	.;.;.	3.950593	0.57877	23.9	0.99538446132490432	0.70336	0.32867	0.24690	N	AEFBCI	0.125003	0.24132	N	0.0044370045594232	0.42057	2.52692	-0.0909705041406327	0.35763	2.072897	0.999929062038473	0.46280	0.634777	0.41761	0	0.643519	0.57511	0	0.459711	0.06710	0	0.636168	0.56350	0	.	.	5.35	5.35	0.76297	3.883000	0.55880	11.184000	0.88420	0.751000	0.87719	0.104000	0.22875	0.997000	0.33255	0.344000	0.25523	1.0:0.0:0.0:0.0	13.299	0.59751	882	0.29131	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	926.98	33	chr7	101234346	.	A	G	926.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.161e+00;DP=845;ExcessHet=0.0000;FS=2.832;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=-9.940e-01;SOR=0.402	GT:AD:DP:GQ:PL	0/1:44,44:88:99:941,0,1025	20	0	1	0
chr7	102317219	102317219	G	A	exonic	SH2B2	.	nonsynonymous SNV	SH2B2:NM_001359228:exon7:c.G1219A:p.E407K	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.732	P	0.33	B	0.010	N	0.937	D	1.845	L	1.33	T	-0.806	T	0.147	T	0.35	4.824	27.4	5.02	2.332	8.568	17.329	0.159	0.0131566323141	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1056554988	1.372e-06	2.052e-06	1.364e-06	1.38e-06	5.988e-05	2.3e-07	9e-08	9.92e-06	3.71e-06	5.988e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.48080	T	.	.	.	.	.	.	0.009527	0.30318	N	0.366661	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.39457	-0.8057	0.54807	T	0.147	0.47237	T	9	0.34384626	0.51389	T	0.013157	0.32344	T	0.159	0.41286	.	.	0.760246624658	0.75806	0.35128770051349156	0.35042	0.393599554858	0.40536	0.443405210972	0.31042	T	.	.	.	0.0284068	0.55511	T	-0.196972	0.54932	T	0.930855393409729	0.59583	D	0.838916	0.51225	T	.	.	.	.	.	.	.	.	-9.476	0.70710	D	.	.	0.090	0.12750	B	.	.	3.506122	0.49079	22.7	0.99805217456692474	0.88995	0.98626	0.84855	D	AEFDBCI	0.855444	0.77256	D	0.125916733529125	0.47674	2.989851	0.0884733918942544	0.43966	2.687665	0.99999999974289	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.688494	0.62686	0	0.567892	0.33627	0	.	.	5.02	5.02	0.66742	9.323000	0.95598	6.604000	0.56066	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.003000	0.05239	0.0:0.0:1.0:0.0	17.329	0.87146	759	0.50631	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1023.98	34	chr7	102317219	.	G	A	1023.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.360e-01;DP=825;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.85;ReadPosRankSum=-1.388e+00;SOR=0.660	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1169	20	0	1	0
chr7	102321363	102321363	G	C	exonic	SH2B2	.	nonsynonymous SNV	SH2B2:NM_001359228:exon9:c.G1632C:p.Q544H	.	.	361	1149	11	1	0	13	0.00562527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.963	D	0.707	P	0.002	N	0.688	N	0.975	L	1.33	T	-0.915	T	0.105	T	0.917	3.403	17.49	4.44	2.305	1.870	6.100	0.071	.	.	0.00339457	0.0055	0	0	0	0	0	0	0.0078	0.0003299	51	154602	rs551876946	0.0003	0.0003	0.0002	0.0004	0.0032	0.0003	0.0003	0.0029	0.0027	0.0002	9.751e-05	0	0	0	0.0010	0.0001	0.0002	0.0032	0.0003	0.0003	0.0002	0.0003	0.0035	0.0002	0.0002	0.0022	0.0018	0.0001	0	6.551e-05	0	0	0	0	0.0002	0.0005	0.0035	.	.	.	0.136	0.34009	T	.	.	.	.	.	.	0.001762	0.38052	N	0.221696	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.16168	-0.9151	0.46207	T	0.105	0.38489	T	9	0.008153677	0.00185	T	.	.	.	0.203	0.48915	.	.	0.832138359527	0.83054	0.378363826489042	0.37751	0.590791334462	0.54529	0.874636590481	0.93225	D	.	.	.	0.0757761	0.61542	D	0.334281	0.89681	D	0.0898801812054676	0.11205	T	0.724428	0.33821	T	.	.	.	.	.	.	.	.	-2.829	0.08453	T	.	.	0.195	0.41587	B	.	.	2.472619	0.31872	18.87	0.99602580607116897	0.74278	0.73881	0.36137	D	AEFDBCI	0.234904	0.35759	N	0.0813665944166749	0.45595	2.813341	0.13795238513356	0.46509	2.895578	0.999999818315793	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.674405	0.61402	0	0.505526	0.08623	0	.	.	4.44	4.44	0.53164	1.918000	0.39636	4.350000	0.43085	0.562000	0.28470	1.000000	0.71638	1.000000	0.68203	0.799000	0.37691	0.2094:0.0:0.7906:0.0	6.100	0.19266	759	0.50631	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	111.98	34	chr7	102321363	.	G	C	111.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.652;DP=614;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.00;ReadPosRankSum=-1.759e+00;SOR=1.236	GT:AD:DP:GQ:PL	0/0:34,0:34:93:0,93,1395	20	0	1	0
chr7	102321478	102321478	C	G	exonic	SH2B2	.	nonsynonymous SNV	SH2B2:NM_001359228:exon9:c.C1747G:p.P583A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.003	B	0.004	B	0.130	N	0.999	N	0.895	L	1.43	T	-1.066	T	0.076	T	0.256	-0.622	1.240	-0.025	-0.184	0.114	5.424	0.058	0.781928642439	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868990700	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.28300	T	.	.	.	.	.	.	0.129650	0.02797	N	1.779960	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.03392	-1.0663	0.10246	T	0.076	0.30492	T	9	0.121950924	0.23126	T	0.781929	0.98283	D	0.058	0.16647	.	.	0.436671004673	0.43285	0.41611927952261224	0.41527	0.184578645783	0.20760	0.806786894798	0.82999	D	.	.	.	-0.162324	0.26402	T	-0.470944	0.25416	T	0.0318929441273212	0.02289	T	0.373463	0.08871	T	.	.	.	.	.	.	.	.	-3.511	0.16586	T	.	.	0.053	0.00254	B	.	.	0.320317	0.06949	3.496	0.43323771206421807	0.03254	0.06862	0.12887	N	AEFDBHCIJ	0.052479	0.09371	N	-1.56369438642633	0.01456	0.06354392	-1.58126930048254	0.01770	0.08053544	0.999999762145223	0.74766	0.652421	0.48094	0	0.577304	0.33150	0	0.64067	0.45733	0	0.662026	0.63922	0	.	.	4.12	-0.0255	0.13261	0.064000	0.14310	-0.066000	0.12360	-0.315000	0.05944	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.1171:0.6238:0.1129:0.1461	5.424	0.15714	759	0.50631	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	221.05	8	chr7	102321478	.	C	G	221.05	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.319;DP=321;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0290;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=27.63;ReadPosRankSum=0.319;SOR=1.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:20,0:20:57:.:.:0,57,855	20	0	1	0
chr7	102348406	102348406	G	A	exonic	SPDYE6	.	nonsynonymous SNV	SPDYE6:NM_001146210:exon6:c.C1027T:p.R343C,	.	.	641	871	4	0	6	10	0.00229095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.929e-05	6.645e-05	3.177e-05	8.585e-05	0.0003	4.632e-05	4.23e-05	0.0002	0.0002	3.981e-05	0.0001	0.0004	3.115e-05	0	0.0003	1.446e-05	0.0001	0.0003	0	3.967e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.001	0.83351	D	1.0	0.90584	D	0.984	0.76113	D	.	.	.	.	.	.	.	0.455	0.12820	N	.	.	.	.	.	.	0.122	0.11340	.	.	.	.	.	.	.	0.19610131	0.35488	T	.	.	.	.	.	.	.	0.222439326576	0.21863	0.08390564604976637	0.08324	.	.	0.502229452133	0.39139	T	0.025994	0.19327	T	-0.107236	0.35225	T	-0.391814	0.34340	T	.	.	.	0.529847	0.17555	T	0.07272767	0.16201	0.11027462	0.26587	0.07272767	0.16200	0.11027462	0.26586	-5.167	0.38604	T	.	.	0.165	0.36475	B	.	.	1.676779	0.21372	15.17	0.86101389409799867	0.16314	0.00099	0.00643	N	AEFI	.	.	.	.	.	.	.	.	.	6.17615610084428E-5	0.04366	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.101684	0.03063	0	0.0489367	0.08445	.	.	.	-0.839000	0.04475	.	.	-0.787000	0.03278	0.000000	0.06391	.	.	0.000000	0.00833	.	.	.	759	0.50631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3267.33	12	chr7	102348406	.	G	A	3267.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.86;DP=601;ExcessHet=0.0000;FS=0.935;InbreedingCoeff=0.2454;MLEAC=1;MLEAF=0.026;MQ=41.04;MQRankSum=-2.585e+00;QD=12.06;ReadPosRankSum=0.964;SOR=0.763	GT:AD:DP:GQ:PL	0/1:134,137:271:99:3280,0,2829	18	0	1	2
chr7	102352069	102352069	G	C	exonic	SPDYE6	.	nonsynonymous SNV	SPDYE6:NM_001146210:exon4:c.C666G:p.D222E,	.	.	628	887	7	0	0	7	0.00393038	.	.	2334523	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1229213880	0.0020	0.0027	0.0019	0.0021	0.0171	0.0019	0.0019	0.0127	0.0112	0.0011	0.0027	0.0229	0	0.0002	0.0171	0.0012	0.0045	0.0028	0.0026	0.0035	0.0023	0.0029	0.0069	0.0024	0.0023	0.0057	0.0053	0.0004	0	0.0069	0.0316	0	0.0005	0.0388	0.0015	0.0089	0.0064	.	.	.	0.003	0.76473	D	0.956	0.54666	P	0.742	0.55764	P	.	.	.	.	.	.	.	2.855	0.82945	M	.	.	.	.	.	.	0.353	0.39457	.	.	.	.	.	.	.	0.3683995	0.53283	T	.	.	.	.	.	.	.	0.0986583533028	0.09354	0.1795873168001415	0.17877	.	.	0.78449010849	0.79607	T	0.479663	0.80898	T	-0.0101359	0.50246	T	-0.252336	0.49585	T	.	.	.	0.929107	0.73907	D	0.20371732	0.42458	0.34103224	0.59848	0.20371732	0.42458	0.34103224	0.59848	-10.334	0.75887	D	.	.	0.876	0.81212	P	.	.	2.753762	0.36104	20.2	0.46087263666524492	0.03665	0.07735	0.13736	N	AEFI	.	.	.	.	.	.	.	.	.	7.56217457502011E-5	0.04552	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.101684	0.03063	0	0.0828504	0.18924	0.453	0.453	0.15851	0.380000	0.20331	2.112000	0.30666	0.235000	0.18186	0.991000	0.37257	1.000000	0.68203	0.316000	0.24877	.	.	.	759	0.50631	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	131.48	41	chr7	102352069	.	G	C	131.48	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.398;DP=969;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0334;MLEAC=1;MLEAF=0.025;MQ=29.78;MQRankSum=-1.070e-01;QD=2.12;ReadPosRankSum=1.03;SOR=0.899	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:70,0:70:99:.:.:0,120,1800	19	0	1	1
chr7	102467723	102467723	G	A	exonic	LRWD1	.	nonsynonymous SNV	LRWD1:NM_001317721:exon5:c.G122A:p.R41Q	.	.	417	1086	16	3	0	22	0.0100273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.07	B	0.003	B	0.179	N	0.981	N	1.7	L	0.2	T	-1.003	T	0.100	T	0.031	2.509	14.35	-4.02	-0.720	-1.155	11.838	0.094	.	0.0042	0.00279553	0.0073	0.0012	0.0048	0	0	0.0065	0.0155	0.0106	0.0021539	333	154602	rs75691611	0.0063	0.0061	0.0061	0.0065	0.0113	0.0062	0.0062	0.0107	0.0105	0.0013	0.0015	0.0145	2.797e-05	0.0011	0.0035	0.0065	0.0065	0.0113	0.0044	0.0044	0.0048	0.0039	0.0100	0.0041	0.0040	0.0077	0.0069	0.0012	0.0220	0.0022	0.0156	0	0.0011	0	0.0064	0.0033	0.0100	0.143	0.25355	T	0.046	0.49390	D	0.07	0.23866	B	0.003	0.08700	B	0.178910	0.17158	N	0.617387	0.980653	0.25096	N	1.455	0.36767	L	0.2	0.60111	T	-0.24	0.10833	N	0.131	0.12627	-1.0033	0.28963	T	0.100	0.37239	T	10	0.0036244392	0.00066	T	.	.	.	0.094	0.27141	.	.	0.451977122513	0.44822	0.18113014087520377	0.18032	0.0558576121021	0.06173	0.21189725399	0.00894	T	0.002701	0.02096	T	-0.624362	0.00103	T	-0.659242	0.08318	T	0.0122487797161882	0.00198	T	0.810019	0.46084	T	0.035308044	0.04132	0.051805	0.08411	0.035308044	0.04132	0.051805	0.08410	-3.688	0.19141	T	.	.	0.067	0.02342	B	.;.	.;.	1.991604	0.25300	16.71	0.98617556883053192	0.43731	0.07473	0.13489	N	AEFDBCI	0.051330	0.09060	N	-0.918712162103249	0.10404	0.4970483	-0.921791199566853	0.11580	0.5908304	0.998495800390485	0.37071	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	5.02	-4.02	0.03764	-1.068000	0.03558	-3.470000	0.02762	-0.734000	0.03706	0.092000	0.22623	0.000000	0.08366	0.090000	0.17789	0.7197:0.0:0.2803:0.0	11.838	0.51615	525	0.74024	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	936.98	36	chr7	102467723	.	G	A	936.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.929;DP=808;ExcessHet=0.0000;FS=2.037;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=-1.980e-01;SOR=0.821	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr7	102491004	102491004	-	GTCTGGGGCCTGCCGGC	exonic	RASA4B	.	frameshift insertion	RASA4B:NM_001367767:exon17:c.1949_1950insGCCGGCAGGCCCCAGAC:p.A651Pfs*14,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1485832011	0.0010	0.0015	0.0009	0.0010	0.0029	0.0009	0.0009	0.0025	0.0024	0.0002	0.0004	7.387e-05	0	0.0001	0.0020	0.0010	0.0008	0.0029	0.0008	0.0013	0.0008	0.0009	0.0029	0.0007	0.0007	0.0016	0.0012	0.0001	0.0039	0.0004	0	0	0	0.0071	0.0014	0.0005	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	124.11	7	chr7	102491004	.	A	AGTCTGGGGCCTGCCGGC	124.11	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.830e-01;DP=142;ExcessHet=0.1190;FS=0.000;InbreedingCoeff=-0.0730;MLEAC=2;MLEAF=0.053;MQ=32.99;MQRankSum=0.967;QD=4.60;ReadPosRankSum=-3.740e-01;SOR=0.066	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,67	17	0	2	2
chr7	102569917	102569917	T	C	exonic	POLR2J3	.	nonsynonymous SNV	POLR2J3:NM_001097615:exon2:c.A58G:p.I20V,	.	.	476	1032	13	1	0	15	0.00721501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.0	B	0.001	B	0.000	D	1.000	D	0.8	N	-3.03	D	-0.572	T	0.494	T	0.579	1.099	9.483	1.32	0.387	5.329	6.086	0.099	0.0245854631363	.	0.00119808	0.0023	0	0.0064	0	0	0.0033	0	0	0.0014215	37	26028	rs554279801	0.0039	0.0062	0.0041	0.0038	0.0048	0.0038	0.0038	0.0046	0.0046	0.0005	0.0010	0.0026	0	0.0012	0.0032	0.0048	0.0029	0.0008	0.0031	0.0046	0.0033	0.0029	0.0054	0.0029	0.0028	0.0049	0.0047	0.0008	0.0223	0.0017	0.0032	0	0.0008	0.0034	0.0054	0.0010	0.0010	0.13	0.26740	T	0.349	0.19131	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-3.03	0.92307	D	-0.1	0.11913	N	0.394	0.43514	-0.5716	0.65951	T	0.494	0.80816	T	10	0.008987576	0.00203	T	0.024585	0.47577	T	0.437	0.74164	.	.	0.294561560033	0.29076	0.15163416872376084	0.15085	.	.	0.551104187965	0.46012	T	.	.	.	-0.219297	0.18088	T	-0.0865522	0.64420	T	0.0535416718853383	0.06111	T	0.973503	0.90460	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.19919	B	.;.;.;.;.;.	.;.;.;.;.;.	2.494046	0.32184	18.97	0.9432724894991692	0.24657	0.77620	0.38185	D	AEFI	0.347653	0.44205	N	-0.628358044882491	0.18096	0.9367566	-0.565531229898879	0.20395	1.09858	3.81449028029263E-4	0.06781	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	1.32	1.32	0.20897	5.558000	0.67024	5.317000	0.48280	0.305000	0.19019	1.000000	0.71638	1.000000	0.68203	0.873000	0.41610	0.0:0.0:0.0:1.0	6.086	0.19194	434	0.80536	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	503.98	47	chr7	102569917	.	T	C	503.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.847;DP=1002;ExcessHet=0.0000;FS=2.361;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=34.01;MQRankSum=1.01;QD=2.61;ReadPosRankSum=-3.100e-02;SOR=0.470	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,114,1710	20	0	1	0
chr7	102656303	102656303	C	G	exonic	SPDYE2;SPDYE2B	.	nonsynonymous SNV	SPDYE2:NM_001031618:exon5:c.C666G:p.D222E	.	.	25	200	1	0	0	1	0.00249377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.716	P	0.462	P	0.000	D	1.000	N	2.165	M	.	.	-0.980	T	0.121	T	0.213	1.165	9.740	.	0.107	0.993	.	0.079	.	.	.	0.0058	0.0005	0.0058	0	0	0.0089	0	0.0164	3.84e-05	1	26028	rs753676177	0.0011	0.0013	0.0010	0.0011	0.0083	0.0010	0.0009	0.0041	0.0030	0.0003	0.0018	0.0126	0	0.0002	0.0083	0.0007	0.0021	0.0012	0.0001	0.0003	7.478e-05	0.0002	0.0013	3.164e-05	1.676e-05	0.0002	9.462e-05	0	0	0.0013	0	0	0	0	0.0002	0	0	0.006	0.61437	D	0.003	0.76473	D	0.716	0.42206	P	0.462	0.46509	P	0.000007	0.62929	D	0.000000	1	0.08975	N	2.87	0.83286	M	.	.	.	-3.16	0.64710	D	0.342	0.38335	-0.9798	0.35048	T	0.121	0.42208	T	7	0.01031822	0.00230	T	.	.	.	0.079	0.23065	0.617	0.75116	0.0138822411134	0.00435	0.13142598813988937	0.13067	.	.	0.602129340172	0.53205	T	0.480468	0.80945	T	-0.114041	0.34102	T	-0.401588	0.33198	T	0.0660604729206122	0.08087	T	0.934707	0.75503	D	0.53583014	0.69162	0.28707716	0.54718	0.53583014	0.69163	0.28707716	0.54717	-10.242	0.75348	D	.	.	0.913	0.84083	P	.;.;.	.;.;.	2.339884	0.29987	18.30	0.97126119205308015	0.32477	0.04851	0.10585	N	AEFI	0.049676	0.08608	N	-0.451524660840506	0.23689	1.273843	-0.681665262607356	0.17419	0.9261545	1.0986060413411E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	.	.	.	0.284000	0.18624	0.663000	0.20521	0.267000	0.18475	0.998000	0.41325	0.999000	0.35428	0.067000	0.16453	.	.	.	491	0.76657	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.05	36.06	10	chr7	102656303	.	C	G	36.06	.	AC=2;AF=0.050;AN=40;BaseQRankSum=2.43;DP=233;ExcessHet=0.1128;FS=0.000;InbreedingCoeff=-0.0597;MLEAC=2;MLEAF=0.050;MQ=32.48;MQRankSum=-6.260e-01;QD=1.64;ReadPosRankSum=1.47;SOR=0.067	GT:AD:DP:GQ:PL	0/0:12,0:12:36:0,36,452	18	0	2	1
chr7	102934282	102934282	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G369C:p.E123D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.005	N	1.000	D	-0.515	N	0.26	T	-0.990	T	0.059	T	0.045	-0.292	2.603	3.61	1.478	0.025	7.418	0.102	0.00550950631605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.541	0.10678	T	0.0	0.02946	B	0.002	0.06944	B	0.004721	0.33446	N	0.207615	1	0.81001	D	-0.18	0.04256	N	0.26	0.59314	T	2.97	0.00304	N	0.088	0.06587	-0.9900	0.32601	T	0.059	0.24871	T	10	0.0402624	0.02580	T	0.00551	0.14197	T	0.102	0.29158	0.593	0.72247	0.630674063255	0.62765	0.32803734693529624	0.32716	0.23164822142	0.25718	0.39575278759	0.24477	T	0.001762	0.01186	T	-0.263963	0.12439	T	-0.616941	0.11426	T	0.0953304618597031	0.11836	T	0.758424	0.38228	T	0.07261241	0.16165	0.063943654	0.12744	0.07261241	0.16165	0.063943654	0.12743	-1.533	0.03110	T	.	.	0.084	0.33156	B	.;.	.;.	1.403225	0.18178	13.59	0.79853046318071419	0.12930	0.67709	0.33531	D	AEFDBIJ	0.199371	0.32618	N	-0.6476857485773	0.17528	0.9027043	-0.402716744649766	0.24916	1.367225	0.999999761740133	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.52	3.61	0.40494	0.038000	0.13749	0.020000	0.13575	0.676000	0.76740	0.830000	0.30133	0.455000	0.24973	0.993000	0.69303	0.1452:0.1381:0.7166:0.0	7.418	0.26231	455	0.79073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	849.76	35	chr7	102934282	.	G	C	849.76	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-5.273e+00;DP=2518;ExcessHet=1.7912;FS=177.018;InbreedingCoeff=-0.1745;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=0.346;SOR=11.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,30:169:99:0|1:102934282_G_C:114,0,4756:102934282	15	0	6	0
chr7	102934283	102934283	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G370C:p.A124P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.58	M	0.09	T	-0.079	T	0.414	T	0.931	4.705	26.1	4.65	1.469	7.967	14.775	0.686	0.102285869568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.642e-05	1.362e-06	1.376e-06	8.996e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000018	0.62929	D	0.000000	1	0.81001	D	2.48	0.72069	M	0.09	0.61443	T	-4.69	0.79743	D	0.866	0.91621	-0.0790	0.80575	T	0.414	0.76122	T	10	0.83823025	0.82978	D	0.102286	0.77566	D	0.686	0.88538	0.608	0.74063	0.884098710478	0.88296	0.8411723386298476	0.84077	1.02869255285	0.75355	0.595906376839	0.52327	T	0.053493	0.29459	T	0.351657	0.86616	D	0.267354	0.86441	D	0.998028337955475	0.93033	D	0.90001	0.65919	D	0.958163	0.97095	0.93957394	0.97739	0.958163	0.97095	0.93957394	0.97740	-8.842	0.66674	D	.	.	0.973	0.90137	P	.;.	.;.	4.615823	0.73244	26.0	0.99771405677723168	0.85918	0.99139	0.91801	D	AEFDBIJ	0.974099	0.99537	D	0.77679732466033	0.84635	8.343356	0.724224124696295	0.84219	8.231214	0.999999999999933	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.52	4.65	0.57626	8.066000	0.89276	4.610000	0.44033	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0697:0.0:0.9303:0.0	14.775	0.69347	455	0.79073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	1847.14	124	chr7	102934283	.	G	C	1847.14	.	AC=10;AF=0.250;AN=40;BaseQRankSum=-4.298e+00;DP=2977;ExcessHet=6.1002;FS=207.422;InbreedingCoeff=-0.3468;MLEAC=11;MLEAF=0.275;MQ=60.00;MQRankSum=0.00;QD=1.17;ReadPosRankSum=0.257;SOR=12.042	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,30:169:99:0|1:102934282_G_C:114,0,4756:102934282	10	0	10	1
chr7	102934571	102934571	T	A	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.T658A:p.L220M	.	.	430	1060	30	2	0	34	0.0157846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.343	B	0.189	B	0.627	N	1.000	N	0.69	N	0.09	T	-0.987	T	0.091	T	0.295	2.055	12.83	-8.74	-1.287	-1.047	14.132	0.073	0.0205330549804	0.0046	0.00139776	0.0047	0.0021	0.0042	0	0.0044	0.0063	0.0089	0.0023	0.0044178	683	154602	rs36040681	0.0040	0.0040	0.0039	0.0041	0.0210	0.0039	0.0039	0.0179	0.0168	0.0019	0.0050	0.0265	0	0.0031	0.0210	0.0036	0.0071	0.0021	0.0043	0.0043	0.0043	0.0043	0.0049	0.0040	0.0039	0.0040	0.0038	0.0023	0.0022	0.0049	0.0317	0.0002	0.0036	0.0102	0.0043	0.0080	0.0027	0.032	0.46129	D	0.05	0.48080	T	0.257	0.33512	B	0.143	0.36295	B	0.627179	0.10722	N	0.753644	1	0.08975	N	1.79	0.46772	L	0.09	0.63911	T	-0.31	0.12099	N	0.291	0.32921	-0.9874	0.33249	T	0.091	0.34847	T	10	0.0042235553	0.00084	T	0.020533	0.43144	T	0.073	0.21317	.	.	0.353974658523	0.35008	0.2819359309231691	0.28106	0.331437822524	0.35218	0.276401311159	0.06996	T	0.033263	0.22839	T	-0.46394	0.00929	T	-0.429799	0.29957	T	0.0145937820321721	0.00300	T	0.613939	0.24114	T	0.089716	0.20969	0.06520197	0.13181	0.089716	0.20969	0.06520197	0.13181	-4.612	0.32322	T	.	.	0.074	0.08129	B	.;.	.;.	0.376272	0.07484	4.124	0.95126299566557715	0.26230	0.04616	0.10276	N	AEFDBI	0.164558	0.29096	N	-1.24876555415695	0.04316	0.1945527	-1.3501848080759	0.03804	0.1781696	0.999999995568789	0.74766	0.643511	0.44296	0	0.59043	0.45803	0	0.640751	0.46059	0	0.631631	0.49550	0	.	.	5.28	-8.74	0.00725	-1.001000	0.03800	-4.773000	0.01992	-1.457000	0.01087	0.000000	0.06391	0.000000	0.08366	0.932000	0.46971	0.0:0.6661:0.167:0.1669	14.132	0.64796	455	0.79073	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3653.11	41	chr7	102934571	.	T	A	3653.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.516;DP=1042;ExcessHet=0.1072;FS=4.591;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=0.216;SOR=0.600	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	19	0	2	0
chr7	103297467	103297467	C	T	exonic	PMPCB	.	nonsynonymous SNV	PMPCB:NM_004279:exon1:c.C8T:p.A3V,	.	.	432	1085	3	2	0	7	0.00321543	.	.	1326658	not_provided|Inborn_genetic_diseases|PMPCB-related_disorder	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	0.000	N	0.929	N	0	N	2.64	T	-1.028	T	0.016	T	0.427	1.558	11.16	2.21	0.826	1.069	6.550	0.131	0.0350294220363	0.0025	0.000199681	0.0022	0.0006	0.0005	0	0.0003	0.0036	0	0.0004	0.0021863	338	154602	rs138251541	0.0031	0.0030	0.0031	0.0031	0.0037	0.0030	0.0030	0.0036	0.0036	0.0006	0.0008	0.0004	2.592e-05	0.0005	0.0012	0.0037	0.0022	0.0010	0.0022	0.0022	0.0023	0.0022	0.0042	0.0020	0.0020	0.0038	0.0036	0.0006	0.0154	0.0005	0	0	0.0002	0	0.0042	0.0009	0.0008	0.065	0.39575	T	0.146	0.32891	T	0.0	0.02946	B	0.0	0.04355	B	0.000258	0.46924	N	0.181103	1	0.27101	N	1.355	0.33814	L	2.64	0.13095	T	-0.65	0.18877	N	0.346	0.39558	-1.0282	0.21038	T	0.016	0.06711	T	10	0.0047867	0.00101	T	0.035029	0.56072	D	0.131	0.35738	.	.	0.215869574891	0.21205	0.49009211252158025	0.48929	0.128824282099	0.14521	0.580719769001	0.50187	T	0.10003	0.40543	T	-0.427538	0.01534	T	-0.381778	0.35516	T	0.0559007256045956	0.06508	T	0.784922	0.42251	T	0.07176204	0.15910	0.2001451	0.43931	0.087343544	0.20336	0.17908221	0.40619	-6.081	0.46952	T	.	.	0.401	0.59650	A	.;.	.;.	1.947884	0.24740	16.51	0.98672318710746298	0.44498	0.04510	0.10135	N	ALL	0.052822	0.09463	N	-0.742725468203699	0.14833	0.7422049	-0.672040839057638	0.17661	0.9400987	1.0	0.98316	0.024636	0.00146	3	0.218748	0.04544	0	0.166054	0.03999	2	0.56214	0.19341	0	.	.	4.98	2.21	0.27042	1.286000	0.32877	0.416000	0.18166	0.524000	0.24156	0.274000	0.25084	0.203000	0.23585	0.045000	0.14751	0.0:0.7091:0.0:0.2909	6.550	0.21624	618	0.66225	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	562.98	39	chr7	103297467	.	C	T	562.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.227;DP=726;ExcessHet=0.0000;FS=3.005;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.44;ReadPosRankSum=-6.610e-01;SOR=0.288	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,103,1021	20	0	1	0
chr7	103309033	103309033	A	G	exonic	PMPCB	.	nonsynonymous SNV	PMPCB:NM_004279:exon8:c.A931G:p.I311V,	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.042	B	0.156	B	0.000	D	1.000	D	1.27	L	1.59	T	-1.102	T	0.066	T	0.193	1.221	9.952	4.16	0.932	3.594	11.865	0.062	0.00988091217189	7.7e-05	0.000599042	0.0004	0	0	0	0	0	0	0.0032	0.0003558	55	154602	rs145931070	0.0002	0.0002	9.016e-05	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	6.039e-05	0	0	0	0	0	9.014e-06	0.0002	0.0028	0.0001	0.0001	7.709e-05	0.0001	0.0027	6.506e-05	5.318e-05	0.0016	0.0013	7.217e-05	0	0	0	0	0	0	0	0	0.0027	0.555	0.06648	T	0.518	0.10536	T	0.035	0.20614	B	0.052	0.25551	B	0.000000	0.84330	D	0.048261	0.999938	0.51612	D	1.445	0.36358	L	1.59	0.28836	T	-0.73	0.20576	N	0.149	0.25130	-1.1024	0.03813	T	0.066	0.27191	T	10	0.007566899	0.00172	T	0.009881	0.25743	T	0.062	0.17934	.	.	0.192905019026	0.18896	0.39032581523904325	0.38947	0.11670823845	0.13163	0.619663715363	0.55681	T	0.082087	0.36747	T	-0.52432	0.00415	T	-0.530852	0.19202	T	0.0978661061021254	0.12120	T	0.919108	0.70849	D	0.24821028	0.47806	0.23808044	0.49122	0.24821028	0.47806	0.23808044	0.49121	-3.968	0.23323	T	0.2730606071303544	0.36701	0.088	0.11510	B	.;.	.;.	2.235782	0.28541	17.83	0.96580792598678777	0.30333	0.85005	0.44105	D	AEFGBCI	0.562929	0.57032	D	-0.258830697224144	0.30752	1.717686	-0.0947466650667741	0.35606	2.062039	0.37705048223917	0.19925	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.35	4.16	0.48138	3.623000	0.53964	6.145000	0.54110	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.981000	0.58702	0.7235:0.2765:0.0:0.0	11.865	0.51764	651	0.62880	Peptidase M16, C-terminal;Peptidase M16, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1651.98	35	chr7	103309033	.	A	G	1651.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.053;DP=814;ExcessHet=0.0000;FS=0.677;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=1.90;SOR=0.830	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1116	20	0	1	0
chr7	103557156	103557156	G	A	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon38:c.C5618T:p.T1873I	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	.	5	1441	66	10	0	86	0.0289757	.	.	177377	not_specified|Familial_temporal_lobe_epilepsy_7|Norman-Roberts_syndrome|not_provided|RELN-related_disorder	MedGen:CN169374|MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.45	T	0.005	B	0.007	B	0.000	D	0.995	D	1.67	L	1.88	T	-1.107	T	0.063	T	0.207	2.227	13.40	5.77	2.885	6.147	14.526	0.064	.	0.0023	0.00259585	0.0044	0.0006	0.0013	0	0.0011	0.0038	0.0033	0.0149	0.0039974	618	154602	rs41275239	0.0036	0.0036	0.0031	0.0041	0.0156	0.0035	0.0035	0.0149	0.0146	0.0005	0.0010	0.0089	2.522e-05	0.0008	0.0125	0.0029	0.0039	0.0156	0.0027	0.0027	0.0025	0.0029	0.0193	0.0025	0.0024	0.0161	0.0150	0.0006	0.0154	0.0009	0.0081	0	0.0004	0.0102	0.0033	0.0033	0.0193	0.409	0.10659	T	0.092	0.39954	T	0.001	0.12996	B	0.002	0.12992	B	0.000047	0.53742	D	0.167803	0.995457	0.42699	D	0.665	0.16292	N	1.88	0.23884	T	-1.15	0.29525	N	0.297	0.36884	-1.1066	0.03378	T	0.063	0.26029	T	10	0.006139159	0.00138	T	.	.	.	0.064	0.18567	.	.	0.151262610727	0.14761	0.36964579770135547	0.36878	0.185958582119	0.20903	0.539009332657	0.44306	T	0.057476	0.30576	T	-0.537201	0.00348	T	-0.532104	0.19077	T	0.015456933726748	0.00347	T	0.867413	0.56831	D	0.14101699	0.32510	0.17155404	0.39346	0.157696	0.35519	0.17927895	0.40651	-3.941	0.22918	T	0.10417546178359656	0.08118	0.088	0.11606	B	.;.;.	.;.;.	3.200901	0.43526	21.8	0.99059792804306646	0.51459	0.94579	0.61626	D	AEFBI	0.811231	0.73427	D	0.110212383688809	0.46938	2.926677	0.307183394079608	0.55960	3.758986	0.834191241572407	0.24747	0.536767	0.22168	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.77	5.77	0.91077	6.195000	0.72012	11.931000	0.99922	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.07:0.0:0.93:0.0	14.526	0.67476	901	0.24189	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	619.98	37	chr7	103557156	.	G	A	619.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.176;DP=733;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.48;ReadPosRankSum=-3.630e-01;SOR=0.902	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1403	20	0	1	0
chr7	103561820	103561820	G	A	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon35:c.C5344T:p.R1782C	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	194119	Familial_temporal_lobe_epilepsy_7|Norman-Roberts_syndrome|not_provided|See_cases	MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.07	T	0.941	P	0.54	P	0.000	D	1.000	D	2.28	M	1.98	T	-1.060	T	0.099	T	0.587	4.973	29.0	5.93	2.814	7.394	20.336	0.173	0.019581890999	0.0008	0.000199681	0.0002	0.0012	0.0003	0	0	6.004e-05	0.0011	0.0002	0.0001617	25	154602	rs138576725	6.02e-05	6.02e-05	6.534e-05	5.501e-05	0.0014	4.962e-05	4.627e-05	0.0011	0.0009	0.0014	0.0001	0	0	0	0.0002	1.799e-05	0.0001	0.0001	0.0004	0.0004	0.0004	0.0003	0.0012	0.0003	0.0003	0.0010	0.0009	0.0012	0	0.0002	0	0	0	0	4.412e-05	0.0005	0.0002	0.104	0.37750	T	0.031	0.53788	D	0.941	0.52883	P	0.308	0.48825	B	0.000006	0.62929	D	0.111100	0.999988	0.54805	D	2.195	0.61839	M	1.98	0.21865	T	-1.66	0.39692	N	0.463	0.52208	-1.0597	0.11830	T	0.099	0.37034	T	10	0.0978826	0.17658	T	0.019582	0.41979	T	0.173	0.43840	.	.	0.15499578495	0.15088	0.5377606171714939	0.53701	0.504568041336	0.48730	0.235546335578	0.02403	T	0.126833	0.45347	T	-0.358187	0.04233	T	-0.322666	0.42281	T	0.116437543128571	0.14078	T	0.939406	0.77188	D	0.12524234	0.29365	0.13013415	0.31275	0.12524234	0.29365	0.13013415	0.31274	-12.6	0.87650	D	0.36647256744774304	0.46242	0.148	0.32637	B	.;.;.	.;.;.	3.791912	0.54583	23.5	0.99938288255536867	0.99698	0.99016	0.90001	D	AEFBI	0.951423	0.96597	D	0.664222789636098	0.77293	6.646826	0.713602011137291	0.83413	8.014667	0.999999884425708	0.74766	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.93	5.93	0.95888	7.511000	0.80606	4.661000	0.44237	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.973000	0.55318	0.0:0.0:1.0:0.0	20.336	0.98740	896	0.25515	EGF-like domain;.;EGF-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2273.98	34	chr7	103561820	.	G	A	2273.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=880;ExcessHet=0.0000;FS=1.219;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.70;ReadPosRankSum=-6.250e-01;SOR=0.846	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr7	103565332	103565332	G	A	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon34:c.C5156T:p.S1719L	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	.	0	1514	6	2	0	10	0.00329164	.	.	135572	not_provided|Norman-Roberts_syndrome|Familial_temporal_lobe_epilepsy_7|not_specified|RELN-related_disorder	MedGen:C3661900|MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.14	T	0.999	D	0.963	D	0.000	N	1.000	D	1.87	L	1.75	T	-0.797	T	0.166	T	0.933	4.411	23.4	5.15	1.569	9.139	15.254	0.343	.	0.0056	0.00339457	0.0067	0.0014	0.0024	0	0.0085	0.0081	0.0055	0.0102	0.0064359	995	154602	rs115913736	0.0070	0.0070	0.0068	0.0072	0.0105	0.0069	0.0068	0.0100	0.0097	0.0012	0.0022	0.0253	0.0001	0.0073	0.0017	0.0070	0.0065	0.0105	0.0054	0.0054	0.0052	0.0055	0.0137	0.0050	0.0049	0.0110	0.0101	0.0014	0.0033	0.0035	0.0308	0	0.0078	0	0.0065	0.0028	0.0137	0.156	0.24090	T	0.003	0.76473	D	0.998	0.77913	D	0.963	0.70837	D	0.000006	0.62929	N	0.066420	0.999988	0.54805	D	2.19	0.61577	M	1.75	0.43672	T	-2.21	0.49684	N	0.874	0.87590	-0.7971	0.55315	T	0.166	0.50502	T	10	0.008295119	0.00188	T	.	.	.	0.343	0.66488	.	.	0.774548999786	0.77247	0.8146779837762341	0.81423	0.646648351517	0.58073	0.59543299675	0.52259	T	0.13509	0.46670	T	-0.110992	0.34604	T	0.0771866	0.75390	D	0.0162818479937675	0.00399	T	0.952605	0.81930	D	0.15159601	0.34455	0.19242989	0.42756	0.16959389	0.37485	0.19242989	0.42755	-10.351	0.75986	D	0.4840427302220018	0.56215	0.174	0.38043	B	.;.;.	.;.;.	4.930098	0.81271	27.5	0.99907662134514097	0.97801	0.98876	0.88035	D	AEFBI	0.942904	0.94807	D	0.720984873074304	0.81007	7.42263	0.718139143487883	0.83757	8.106139	0.990970935846192	0.32331	0.536767	0.22168	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	6.02	5.15	0.70287	9.262000	0.94771	11.908000	0.99523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0668:0.0:0.9332:0.0	15.254	0.73267	889	0.27310	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1486.98	33	chr7	103565332	.	G	A	1486.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.653;DP=879;ExcessHet=0.0000;FS=3.836;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.47;ReadPosRankSum=-1.180e-01;SOR=0.447	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1231	20	0	1	0
chr7	103565380	103565380	G	C	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon34:c.C5108G:p.P1703R	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	.	0	225	1	0	0	1	0.00221729	.	.	135571	Norman-Roberts_syndrome|not_provided|not_specified|Familial_temporal_lobe_epilepsy_7	MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	2.67	M	1.99	T	-0.865	T	0.137	T	0.883	4.740	26.5	6.02	2.865	9.139	20.541	0.481	0.0567467834204	0.0037	0.00139776	0.0033	0.0007	0.0012	0	0.0068	0.0047	0.0066	0.0009	0.0032018	495	154602	rs2229860	0.0046	0.0046	0.0046	0.0045	0.0052	0.0045	0.0044	0.0051	0.0051	0.0007	0.0018	0.0012	0	0.0068	0.0003	0.0052	0.0039	0.0011	0.0035	0.0035	0.0035	0.0035	0.0057	0.0033	0.0032	0.0052	0.0050	0.0007	0.0011	0.0029	0.0012	0	0.0060	0	0.0057	0.0009	0.0006	0.004	0.65419	D	0.0	0.92824	D	0.999	0.90584	D	0.996	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.94	0.84723	M	1.99	0.21666	T	-4.1	0.74900	D	0.941	0.94786	-0.8654	0.50871	T	0.137	0.45394	T	10	0.023003519	0.00590	T	0.056747	0.66716	D	0.481	0.77142	.	.	0.550389771131	0.54696	0.8173887430551641	0.81695	0.712895479657	0.61788	0.643720090389	0.59093	T	0.541573	0.84313	D	-0.102347	0.36036	T	0.0863241	0.76000	D	0.0299260665632957	0.01977	T	0.936606	0.76191	D	0.46495426	0.64979	0.57886153	0.75594	0.5911003	0.72212	0.6132332	0.77495	-14.572	0.94767	D	0.6050620153603461	0.67228	0.935	0.85485	P	.;.;.	.;.;.	4.810292	0.78248	26.9	0.99868175228066525	0.94637	0.99232	0.93179	D	AEFGBI	0.958308	0.97800	D	0.995813412088824	0.95613	13.79061	0.97736553388868	0.98140	17.52007	0.999999983141739	0.74766	0.536767	0.22168	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	6.02	6.02	0.97559	9.262000	0.94771	11.889000	0.99041	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.541	0.99263	889	0.27310	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3514.98	33	chr7	103565380	.	G	C	3514.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.557e+00;DP=1106;ExcessHet=0.0000;FS=1.460;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=0.411;SOR=0.589	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1231	20	0	1	0
chr7	103596518	103596518	G	T	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon25:c.C3477A:p.N1159K	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	.	1	1499	22	0	0	22	0.00728477	.	.	265480	Norman-Roberts_syndrome|RELN-related_disorder|Childhood_epilepsy_with_centrotemporal_spikes|Familial_temporal_lobe_epilepsy_7|not_provided|not_specified	MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|.|MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945|MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.08	T	0.997	D	0.968	D	0.000	D	0.999	D	2.005	M	1.93	T	-0.742	T	0.222	T	0.34	3.887	19.76	5.81	2.763	2.137	11.424	0.100	0.0123328672847	0.0024	0.000998403	0.0017	0.0004	0.0011	0	0.0003	0.0024	0.0022	0.0017	0.0016753	259	154602	rs114684479	0.0017	0.0017	0.0017	0.0018	0.0085	0.0017	0.0017	0.0066	0.0059	0.0004	0.0011	0.0036	0	0.0002	0.0085	0.0018	0.0023	0.0018	0.0014	0.0014	0.0017	0.0012	0.0023	0.0013	0.0012	0.0020	0.0019	0.0004	0	0.0014	0.0026	0	0	0.0068	0.0023	0.0024	0.0012	0.065	0.36310	T	0.006	0.70582	D	0.993	0.70673	D	0.968	0.71741	D	0.000000	0.84330	D	0.000000	0.999316	0.46639	D	2.135	0.59519	M	1.93	0.40749	T	-1.97	0.45587	N	0.802	0.79792	-0.7423	0.58334	T	0.222	0.58562	T	10	0.034067214	0.01602	T	0.012333	0.30806	T	0.100	0.28662	0.443	0.49975	0.582439298246	0.57915	0.7160210259459234	0.71545	0.334481402092	0.35464	0.660431861877	0.61471	T	0.12837	0.45598	T	-0.433301	0.01416	T	-0.401041	0.33264	T	0.0202194386212343	0.00722	T	0.926307	0.72903	D	0.21267676	0.43626	0.23037976	0.48138	0.19648728	0.41478	0.23178662	0.48320	-6.371	0.49283	T	0.5262139601829272	0.59774	0.571	0.67673	P	.;.;.	.;.;.	4.014742	0.59257	24.1	0.99859663217484318	0.93820	0.93134	0.57415	D	AEFI	0.738209	0.68316	D	0.675560567315045	0.78031	6.790338	0.673584547766623	0.80377	7.285509	0.845672714566861	0.24948	0.615465	0.37627	0	0.573888	0.26702	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.81	5.81	0.92413	2.171000	0.42080	5.969000	0.51963	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1387:0.0:0.8613:0.0	11.424	0.49241	901	0.24189	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1678.98	33	chr7	103596518	.	G	T	1678.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.187e+00;DP=839;ExcessHet=0.0000;FS=1.279;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.05;ReadPosRankSum=1.16;SOR=0.560	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1311	20	0	1	0
chr7	103749490	103749490	C	T	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon6:c.G592A:p.D198N	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.008	B	0.007	B	0.000	N	0.713	D	1.67	L	1.82	T	-1.018	T	0.059	T	0.125	2.552	14.49	4.43	1.381	1.449	12.350	0.031	0.00680638755384	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1160351268	1.028e-05	1.231e-05	1.227e-05	8.26e-06	1.351e-05	6.17e-06	4.89e-06	8.11e-06	6.43e-06	0	0	0	0	0	0	1.351e-05	0	0	6.574e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.081	0.33585	T	0.021	0.58089	D	0.005	0.14655	B	0.003	0.12992	B	0.000119	0.50451	N	0.209872	0.71304	0.33538	D	1.67	0.42885	L	1.82	0.25018	T	-1.2	0.31981	N	0.261	0.29889	-1.0175	0.24528	T	0.059	0.24686	T	10	0.23203647	0.40191	T	0.006806	0.17982	T	0.031	0.07369	0.381	0.39807	0.502596446142	0.49897	0.4079680665134354	0.40712	0.181187604132	0.20376	0.498388648033	0.38604	T	0.069971	0.33844	T	-0.23486	0.16011	T	-0.575137	0.14982	T	0.363228619098663	0.27535	T	0.813119	0.46553	T	0.06348856	0.13372	0.054465856	0.09372	0.06348856	0.13372	0.054465856	0.09372	-3.914	0.22512	T	0.1833049256037372	0.23723	0.075	0.05623	B	.;.;.	.;.;.	2.374865	0.30480	18.45	0.99559002306460886	0.71645	0.75721	0.37089	D	AEFI	0.449096	0.50405	N	-0.176609935047438	0.34110	1.943049	-0.0235187608393639	0.38654	2.28053	0.0301481301017838	0.13925	0.638212	0.43195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.31	4.43	0.52967	1.742000	0.37873	2.760000	0.34598	0.599000	0.40250	1.000000	0.71638	0.994000	0.32194	0.890000	0.42831	0.0:0.9203:0.0:0.0797	12.350	0.54471	780	0.47616	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	640.98	33	chr7	103749490	.	C	T	640.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.58;DP=766;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.82;ReadPosRankSum=-5.180e-01;SOR=0.703	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1178	20	0	1	0
chr7	105142299	105142299	C	T	exonic	SRPK2	.	nonsynonymous SNV	SRPK2:NM_001350739:exon10:c.G1219A:p.D407N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.135	B	0.121	B	0.006	N	1.000	D	1.245	L	2.02	T	-0.698	T	0.284	T	0.068	3.227	16.81	5.32	2.647	5.308	19.344	0.101	0.0361452876105	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.61437	D	0.293	0.21612	T	0.135	0.27304	B	0.121	0.32300	B	0.006020	0.32339	N	0.338464	0.999979	0.53665	D	1.28	0.32218	L	2.02	0.21119	T	-0.45	0.14782	N	0.3	0.39861	-0.6981	0.60529	T	0.284	0.65567	T	10	0.20722976	0.37012	T	0.036145	0.56805	D	0.101	0.28911	0.416	0.45544	0.344269797579	0.34043	0.029569963919614285	0.02905	0.0521985134838	0.05745	0.357384324074	0.19004	T	0.031542	0.22089	T	-0.250928	0.13984	T	-0.598217	0.12961	T	0.5515556452968	0.34536	D	0.957304	0.83911	D	0.09200636	0.21574	0.08590494	0.19865	0.09200636	0.21574	0.08590494	0.19865	-4.777	0.34369	T	.	.	0.087	0.14247	B	.;.;.	.;.;.	3.161641	0.42843	21.6	0.99771418529019329	0.85918	0.99183	0.92454	D	AEFDBI	0.613620	0.60124	D	0.340222542556061	0.58225	3.993583	0.432299649953005	0.63588	4.595596	0.999999986910675	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	5.357000	0.65823	7.670000	0.64725	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:1.0:0.0:0.0	19.344	0.94343	687	0.59234	.;Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3124.98	34	chr7	105142299	.	C	T	3124.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.53;DP=930;ExcessHet=0.0000;FS=3.934;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.81;ReadPosRankSum=0.815;SOR=0.475	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1274	20	0	1	0
chr7	105614066	105614066	G	C	exonic	ATXN7L1	.	nonsynonymous SNV	ATXN7L1:NM_138495:exon8:c.C1896G:p.D632E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.034	B	0.017	B	0.000	D	1.000	D	0.745	N	1.61	T	-1.047	T	0.041	T	0.188	-0.497	1.720	4.33	2.523	2.637	9.900	0.064	0.00424335358371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.12469	T	1.0	0.02548	T	0.005	0.18474	B	0.004	0.16460	B	0.000132	0.49741	D	0.138750	0.519982	0.31889	D	0.26	0.09897	N	1.61	0.28391	T	-0.19	0.09965	N	0.147	0.15046	-1.0469	0.15274	T	0.041	0.17573	T	10	0.10052198	0.18311	T	0.004243	0.10247	T	0.064	0.18567	0.097	0.01334	0.449283877778	0.44552	0.20088776075350473	0.20005	0.385026323921	0.39793	0.676552057266	0.63775	T	7.73E-4	0.01826	T	-0.215272	0.18644	T	-0.547	0.17614	T	0.663197338581085	0.39037	D	0.756224	0.39120	T	0.07353326	0.16438	0.0722084	0.15551	0.07353326	0.16438	0.0722084	0.15551	-4.221	0.27055	T	.	.	0.124	0.55438	B	.;.;.;.	.;.;.;.	2.105740	0.26793	17.24	0.47757704324101108	0.03930	0.83841	0.42935	D	AEFDBCI	0.391753	0.47007	N	-0.273951466123109	0.30158	1.678963	-0.0533374508611656	0.37345	2.185429	0.998690061336663	0.37477	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	5.41	4.33	0.51083	2.710000	0.46837	5.043000	0.46929	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.081:0.0:0.7785:0.1405	9.900	0.40514	921	0.19240	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1765	390.74	77	chr7	105614066	.	G	C	390.74	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-4.208e+00;DP=2407;ExcessHet=1.7912;FS=149.613;InbreedingCoeff=-0.2427;MLEAC=7;MLEAF=0.206;MQ=60.00;MQRankSum=0.00;QD=0.64;ReadPosRankSum=0.978;SOR=11.460	GT:AD:DP:GQ:PL	0/0:112,28:140:50:0,50,2508	11	0	6	4
chr7	106016025	106016025	G	A	exonic	CDHR3	.	nonsynonymous SNV	CDHR3:NM_001301161:exon10:c.G1162A:p.A388T	.	.	433	1063	23	3	0	29	0.0134571	0.9152	0.49	2823092	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.39	T	1.0	D	0.926	D	0.077	N	1.000	N	1.45	L	0.75	T	-0.969	T	0.136	T	0.141	2.981	15.94	1.55	0.010	1.044	3.744	0.135	.	0.0035	0.00239617	0.0055	0.0016	0.0097	0.0002	0.0039	0.0072	0.0077	0.0027	0.0007956	123	154602	rs143495908	0.0045	0.0046	0.0045	0.0046	0.0154	0.0044	0.0044	0.0127	0.0117	0.0009	0.0053	0.0137	0.0001	0.0025	0.0154	0.0047	0.0053	0.0027	0.0036	0.0036	0.0037	0.0035	0.0050	0.0033	0.0033	0.0045	0.0043	0.0013	0	0.0041	0.0141	0	0.0022	0.0238	0.0050	0.0057	0.0012	0.211	0.45039	T	0.118	0.49120	T	0.958	0.54977	D	0.435	0.45529	B	0.077385	0.21107	N	0.472179	0.998276	0.22253	N	1.19	0.30124	L	0.75	0.57729	T	-1.49	0.36385	N	0.028	0.00618	-0.9692	0.37366	T	0.136	0.45184	T	10	0.005316615	0.00150	T	0.026727	0.49612	D	0.135	0.36572	.	.	0.475971816791	0.47228	0.1819370270975124	0.18112	0.0859386857115	0.09713	0.282651722431	0.07865	T	0.008252	0.16994	T	-0.497222	0.00593	T	-0.485773	0.23835	T	0.0181521391405292	0.00537	T	0.710029	0.32075	T	0.10516262	0.24863	0.110402614	0.26619	0.10516262	0.24863	0.110402614	0.26619	-4.595	0.32109	T	.	.	0.115	0.23183	B	.;.;.	.;.;.	2.904570	0.38512	20.8	0.99411844601586119	0.63310	0.30236	0.24030	N	ALL	0.093806	0.18976	N	-0.261999021850579	0.30627	1.709508	-0.387061525501196	0.25381	1.395495	0.999999999993862	0.74766	0.559995	0.30671	0	0.59043	0.45803	0	0.527494	0.11647	0	0.530356	0.10902	0	.	.	5.46	1.55	0.22356	1.133000	0.31043	3.072000	0.36204	0.676000	0.76740	0.857000	0.30561	1.000000	0.68203	0.054000	0.15518	0.1436:0.3568:0.3776:0.1219	3.744	0.08066	926	0.17793	Cadherin-like;Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1045.98	91	chr7	106016025	.	G	A	1045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.57;DP=780;ExcessHet=0.0000;FS=4.126;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=0.104;SOR=1.218	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1063	20	0	1	0
chr7	106017935	106017935	C	T	exonic	CDHR3	.	nonsynonymous SNV	CDHR3:NM_001301161:exon11:c.C1252T:p.L418F	.	.	428	1081	13	0	0	13	0.00597701	.	.	1284223	not_provided|Susceptibility_to_nonsyndromic_otitis_media	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.884	P	0.622	P	0.274	N	1.000	N	2.115	M	-1.66	D	-0.568	T	0.431	T	0.141	2.427	14.07	-1.88	-0.226	-0.162	1.712	0.408	.	0.0045	0.00359425	0.0062	0.0021	0.0071	0	0.0032	0.0088	0.0129	0.0016	0.0045666	706	154602	rs76067797	0.0049	0.0049	0.0049	0.0049	0.0177	0.0048	0.0047	0.0149	0.0139	0.0019	0.0050	0.0066	7.56e-05	0.0031	0.0177	0.0053	0.0056	0.0022	0.0042	0.0042	0.0044	0.0039	0.0061	0.0039	0.0038	0.0057	0.0055	0.0014	0	0.0044	0.0046	0.0002	0.0040	0.0204	0.0061	0.0090	0.0008	0.044	0.44029	D	0.051	0.47828	T	0.884	0.48618	P	0.622	0.51475	P	0.273709	0.03788	N	1.539750	1	0.08975	N	1.7	0.43825	L	-1.66	0.82715	D	-1.04	0.27876	N	0.071	0.04426	-0.5679	0.66099	T	0.431	0.77284	T	10	0.004099518	0.00080	T	.	.	.	0.408	0.72022	.	.	0.624018827985	0.62096	0.08811006681072454	0.08744	0.0395402123316	0.04217	0.210277408361	0.00823	T	0.003737	0.13282	T	-0.421169	0.01681	T	-0.375284	0.36272	T	0.0159610453110415	0.00379	T	0.508249	0.16760	T	0.0897766	0.20988	0.082048506	0.18695	0.0897766	0.20988	0.082048506	0.18694	-5.089	0.37791	T	.	.	0.073	0.05756	B	.;.	.;.	1.581865	0.20241	14.66	0.99604673751152728	0.74397	0.07323	0.13344	N	AEFDBHCIJ	0.063896	0.12377	N	-0.332726579874717	0.27912	1.535229	-0.515309838379762	0.21738	1.177336	0.999999985873122	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.48	-1.88	0.07294	-0.149000	0.10189	0.256000	0.16486	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.969000	0.54022	0.3165:0.3288:0.2086:0.1462	1.712	0.02718	925	0.17918	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1729.98	33	chr7	106017935	.	C	T	1729.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.345;DP=869;ExcessHet=0.0000;FS=1.908;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.89;ReadPosRankSum=0.740;SOR=0.894	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr7	106020483	106020483	C	G	exonic	CDHR3	.	nonsynonymous SNV	CDHR3:NM_001301161:exon12:c.C1500G:p.F500L	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.991	D	0.835	P	0.001	N	1.000	D	1.69	L	1.33	T	-0.571	T	0.325	T	0.614	4.468	23.9	5.55	2.615	2.857	17.683	0.120	0.0423996171744	.	.	8.283e-06	0	8.64e-05	0	0	0	0	0	6.5e-06	1	154602	rs773342080	6.841e-07	6.84e-07	0	1.375e-06	2.236e-05	0	0	.	.	0	2.236e-05	0	0	0	0	0	0	0	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.326	0.13306	T	0.012	0.63918	D	0.991	0.64070	D	0.835	0.59863	P	0.001017	0.40652	N	0.222301	0.993537	0.81001	D	2.5	0.72771	M	0.45	0.56446	T	-1.78	0.42001	N	0.818	0.81360	-0.5706	0.65990	T	0.325	0.69376	T	10	0.6794839	0.71192	D	0.042	0.60441	D	0.120	0.33359	0.455	0.51938	0.486707162081	0.48303	0.34978456455975254	0.34892	0.2742638541	0.29923	0.58991932869	0.51483	T	0.044961	0.33978	T	-0.0581273	0.43199	T	-0.238407	0.50954	T	0.901796936988831	0.55460	D	0.744226	0.36418	T	0.19554092	0.41347	0.17380625	0.39733	0.19554092	0.41347	0.17380625	0.39732	-5.623	0.43002	T	.	.	0.901	0.82843	P	.;.	.;.	4.258191	0.64686	24.7	0.99838632699138452	0.91972	0.93461	0.58279	D	AEFBI	0.559868	0.56851	D	0.349681380415187	0.58724	4.046355	0.427940633940238	0.63312	4.562441	0.999999999534022	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.55	5.55	0.83298	2.916000	0.48511	4.016000	0.41206	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:1.0:0.0:0.0	17.683	0.88154	916	0.20744	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2360.98	35	chr7	106020483	.	C	G	2360.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=906;ExcessHet=0.0000;FS=3.121;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=-1.234e+00;SOR=0.705	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1238	20	0	1	0
chr7	106032431	106032431	G	T	exonic	CDHR3	.	nonsynonymous SNV	CDHR3:NM_001301161:exon18:c.G2128T:p.A710S	.	.	424	1089	9	0	0	9	0.00411523	.	.	1284226	not_provided|Susceptibility_to_nonsyndromic_otitis_media	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.15	T	0.017	B	0.041	B	0.000	D	1.000	D	2.135	M	-0.07	T	-0.863	T	0.170	T	0.325	3.671	18.66	2.66	0.128	3.563	11.801	0.093	0.0124183947836	0.0061	0.00159744	0.0059	0.0015	0.0003	0	0.0065	0.0087	0.0048	0.0035	0.0056662	876	154602	rs140818720	0.0074	0.0074	0.0075	0.0072	0.0085	0.0072	0.0072	0.0083	0.0083	0.0014	0.0013	0.0105	7.572e-05	0.0066	0.0016	0.0085	0.0047	0.0032	0.0053	0.0053	0.0053	0.0054	0.0081	0.0050	0.0049	0.0076	0.0073	0.0013	0.0307	0.0025	0.0101	0	0.0081	0	0.0081	0.0033	0.0025	0.0	0.91255	D	0.0	0.92824	D	0.017	0.17573	B	0.041	0.23986	B	0.000356	0.45440	D	0.096704	1	0.81001	D	2.16	0.60381	M	-0.07	0.63911	T	-1.17	0.29933	N	0.216	0.41754	-0.8629	0.51054	T	0.170	0.51149	T	10	0.0057110786	0.00127	T	0.012418	0.30977	T	0.093	0.26882	.	.	0.333154297509	0.32921	0.13912969761314647	0.13835	0.0490915211193	0.05371	0.307116061449	0.11471	T	0.039745	0.31452	T	-0.368577	0.03667	T	-0.285292	0.46259	T	0.0814544118076626	0.10172	T	0.59724	0.22223	T	0.3269798	0.55223	0.30057478	0.56091	0.3269798	0.55223	0.30057478	0.56090	-8.194	0.62385	D	.	.	0.117	0.28319	B	.;.	.;.	3.691441	0.52601	23.3	0.99596610686664744	0.73925	0.91129	0.52917	D	AEFBI	0.438142	0.49765	N	-0.414010660405101	0.24978	1.352567	-0.294642065279916	0.28275	1.575148	0.995943853816612	0.34425	0.559995	0.30671	0	0.563428	0.19063	0	0.527494	0.11647	0	0.530356	0.10902	0	.	.	5.45	2.66	0.30672	3.428000	0.52560	6.599000	0.56050	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0629:0.0:0.714:0.2232	11.801	0.51400	922	0.19044	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	818.98	34	chr7	106032431	.	G	T	818.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.650e-01;DP=757;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.38;ReadPosRankSum=0.944;SOR=0.711	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1179	20	0	1	0
chr7	106868873	106868873	G	C	exonic	PIK3CG	.	nonsynonymous SNV	PIK3CG:NM_001282426:exon2:c.G1312C:p.A438P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.009	B	0.006	B	0.054	N	0.999	N	1.52	L	-0.47	T	-0.925	T	0.214	T	0.46	-0.765	0.772	-0.295	-0.362	0.150	10.148	0.144	0.0157302269308	.	.	8.249e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs772698550	1.094e-05	1.094e-05	9.528e-06	1.238e-05	0.0002	6.48e-06	5.24e-06	0.0001	8.645e-05	0	0	0	0	0	0.0002	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.21066	T	0.285	0.21343	T	0.009	0.15093	B	0.006	0.12133	B	0.054265	0.22738	N	0.505564	0.998584	0.22057	N	1.79	0.46772	L	-0.47	0.70133	T	-0.8	0.22078	N	0.392	0.44283	-0.9248	0.44886	T	0.214	0.57468	T	10	0.20050484	0.36099	T	0.01573	0.36624	T	0.144	0.38394	0.475	0.55182	0.600052395692	0.59687	0.38066093143476304	0.37981	0.538981638024	0.51144	0.338224768639	0.16172	T	0.506618	0.82473	D	-0.181117	0.23569	T	-0.31641	0.42968	T	0.0818836679106624	0.10227	T	0.89861	0.64536	D	0.12010698	0.28269	0.10853943	0.26148	0.12010698	0.28269	0.10853943	0.26147	-4.033	0.24296	T	.	.	0.093	0.14247	B	.;.;.	.;.;.	0.067508	0.04768	1.387	0.78195316099110701	0.12196	0.61068	0.31377	D	AEFBI	0.308872	0.41533	N	-1.0497473155042	0.07593	0.3532162	-1.0459827684888	0.08790	0.4339704	0.999593804752265	0.40745	0.651	0.46895	0	0.708844	0.79440	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.73	-0.295	0.12192	0.329000	0.19442	0.320000	0.17174	-0.633000	0.04490	0.982000	0.35529	0.188000	0.23474	0.019000	0.11356	0.3937:0.0:0.6063:0.0	10.148	0.41951	274	0.89249	Phosphatidylinositol 3-kinase, C2 domain|Phosphatidylinositol 3-kinase, C2 domain|Phosphatidylinositol 3-kinase, C2 domain;Phosphatidylinositol 3-kinase, C2 domain|Phosphatidylinositol 3-kinase, C2 domain|Phosphatidylinositol 3-kinase, C2 domain;Phosphatidylinositol 3-kinase, C2 domain|Phosphatidylinositol 3-kinase, C2 domain|Phosphatidylinositol 3-kinase, C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1033.98	38	chr7	106868873	.	G	C	1033.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.861;DP=1286;ExcessHet=0.0000;FS=0.925;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.99;ReadPosRankSum=1.34;SOR=0.836	GT:AD:DP:GQ:PL	0/0:97,0:97:99:0,120,1800	20	0	1	0
chr7	107045212	107045212	A	G	exonic	PRKAR2B	.	nonsynonymous SNV	PRKAR2B:NM_002736:exon1:c.A305G:p.N102S,	.	.	.	.	.	.	.	.	.	0.0007	0.052	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.0	B	0.0	B	0.000	U	0.999	N	-0.205	N	-1.44	T	-0.817	T	0.227	T	0.034	0.842	8.401	2.06	0.754	0.506	5.865	0.179	0.149643823149	.	0.00119808	0	0	0	0	0	0	0	0	0.0003458	9	26028	rs568215467	0.0003	0.0003	0.0002	0.0004	0.0055	0.0003	0.0003	0.0051	0.0049	3.585e-05	7.933e-05	0	8.91e-05	6.098e-05	0	1.063e-05	0.0002	0.0055	0.0002	0.0002	0.0002	0.0003	0.0058	0.0002	0.0002	0.0041	0.0036	0.0001	0	0	0	0	9.407e-05	0	2.942e-05	0	0.0058	0.543	0.06735	T	0.712	0.05488	T	0.0	0.02946	B	0.0	0.01387	B	0.000026	0.00348	U	24.784500	0.998916	0.21801	N	0.55	0.14455	N	-1.44	0.80815	T	-0.04	0.07590	N	0.068	0.04072	-0.8165	0.54152	T	0.227	0.59246	T	10	0.0053576827	0.00118	T	0.149644	0.83143	D	0.179	0.44899	0.332	0.31843	0.434057395736	0.43027	0.11674322856890336	0.11602	0.673012109471	0.59568	0.774397194386	0.78083	T	0.206136	0.56538	T	-0.510119	0.00501	T	-0.504299	0.21902	T	0.00927292387694864	0.00118	T	.	.	.	0.038848385	0.05253	0.031113124	0.01655	0.038848385	0.05253	0.031113124	0.01654	-2.202	0.04050	T	.	.	0.050	0.00154	B	.	.	1.913494	0.24300	16.35	0.76678734358574019	0.11565	0.36872	0.25633	N	AEFDBCI	0.122721	0.23799	N	-0.798933182876584	0.13337	0.6563529	-0.64922598858666	0.18236	0.9733082	0.99999925882366	0.74766	0.733237	0.96898	0	0.491552	0.07993	0	0.851219	0.99655	0	0.621717	0.48901	0	.	.	4.49	2.06	0.25932	0.222000	0.17482	1.920000	0.29703	0.740000	0.86194	0.023000	0.19925	0.557000	0.25500	0.910000	0.44547	0.3858:0.5091:0.1052:0.0	5.865	0.18017	341	0.85936	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	474.98	39	chr7	107045212	.	A	G	474.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.310e-01;DP=830;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.19;ReadPosRankSum=-6.570e-01;SOR=0.711	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,959	20	0	1	0
chr7	107298244	107298244	T	C	exonic	COG5	.	nonsynonymous SNV	COG5:NM_001379516:exon5:c.A497G:p.Q166R	Congenital disorder of glycosylation, type IIi	.	4	1514	4	0	0	4	0.00131926	.	.	301398	COG5-congenital_disorder_of_glycosylation|not_provided	MONDO:MONDO:0013325,MedGen:C3150876,OMIM:613612,Orphanet:263487|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.56	T	0.926	P	0.406	B	0.000	D	1.000	D	2.19	M	0.32	T	-0.763	T	0.210	T	0.676	3.245	16.88	5.68	2.169	6.857	15.932	0.128	0.0295024944134	0.0003	0.000399361	0.0005	0	0.0002	0	0	0.0007	0.0011	0.0005	0.000511	79	154602	rs189560910	0.0004	0.0004	0.0004	0.0004	0.0007	0.0004	0.0004	0.0005	0.0004	0	0.0007	0.0051	0	0	0.0007	0.0004	0.0007	0.0003	0.0005	0.0005	0.0005	0.0006	0.0018	0.0004	0.0004	0.0012	0.0011	0.0001	0	0.0018	0.0046	0	0	0.0034	0.0004	0.0009	0.0004	0.107	0.31532	T	0.075	0.42794	T	0.851	0.51467	P	0.177	0.44683	B	0.000000	0.84330	D	0.054481	0.999973	0.53665	D	2.705	0.79137	M	0.32	0.58468	T	-1.13	0.31981	N	0.779	0.77601	-0.7631	0.57237	T	0.210	0.56933	T	10	0.04230079	0.02967	T	0.029502	0.51995	D	0.128	0.35103	.	.	0.812139797032	0.81037	0.29568559274099027	0.29481	0.273840617861	0.29883	0.464146018028	0.33878	T	0.007354	0.06762	T	-0.139784	0.29926	T	-0.0958357	0.63718	T	0.0660696949580961	0.08089	T	0.786621	0.42528	T	0.27544832	0.50608	0.26743796	0.52601	0.25455642	0.48485	0.2697498	0.52857	-5.148	0.38408	T	.	.	0.074	0.05017	B	.;.;.	.;.;.	2.532786	0.32752	19.14	0.99704583126920399	0.80867	0.97241	0.73526	D	AEFGI	0.727536	0.67585	D	0.39540390882606	0.61174	4.314824	0.459322156803261	0.65319	4.808603	0.999997381266894	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	6.908000	0.75552	2.376000	0.32458	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.0:1.0	15.932	0.79463	666	0.61362	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1010.98	33	chr7	107298244	.	T	C	1010.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.878;DP=777;ExcessHet=0.0000;FS=2.800;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=-1.720e-01;SOR=1.038	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1225	20	0	1	0
chr7	107689054	107689054	T	C	exonic	SLC26A4	.	nonsynonymous SNV	SLC26A4:NM_000441:exon9:c.T1003C:p.F335L,	Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, Autosomal recessive;Pendred syndrome, Autosomal recessive	YES	1	1516	5	0	0	5	0.00164636	0.5408	0.332	19881	Pendred_syndrome|Autosomal_recessive_nonsyndromic_hearing_loss_4|not_provided|SLC26A4-related_disorder|Rare_genetic_deafness	MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:705|MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791,Orphanet:90636|MedGen:C3661900|.|MedGen:C5680250,Orphanet:96210	reviewed_by_expert_panel	Likely_pathogenic	.	.	.	.	.	.	.	.	0.72	T	0.997	D	0.977	D	0.000	D	1.000	A	0.825	L	-2.65	D	0.228	D	0.708	D	0.928	3.084	16.30	5.62	2.140	6.446	15.825	0.858	0.15050117174	0.0012	0.000798722	0.0009	9.61e-05	0.0002	0.0002	0.0002	0.0008	0	0.0027	0.0008538	132	154602	rs111033212	0.0014	0.0014	0.0013	0.0014	0.0025	0.0013	0.0013	0.0022	0.0021	0.0001	4.473e-05	0.0011	5.04e-05	0.0001	0.0003	0.0015	0.0013	0.0025	0.0008	0.0008	0.0009	0.0008	0.0021	0.0007	0.0007	0.0011	0.0009	9.626e-05	0.0297	0.0002	0.0009	0	0	0	0.0011	0.0009	0.0021	0.727	0.03846	T	0.744	0.04912	T	0.997	0.70673	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.999429	0.47006	A	0.855	0.21307	L	-2.65	0.90210	D	-3.89	0.72820	D	0.714	0.71676	0.228	0.86373	D	0.708	0.89973	D	9	0.07919407	0.12713	T	0.150501	0.83218	D	0.858	0.95655	0.878	0.96734	0.97239640916	0.97209	0.8856395735242829	0.88532	0.0755267479925	0.08473	0.636854588985	0.58117	T	0.694664	0.91153	D	0.0539434	0.58850	T	0.299472	0.88174	D	0.102675847709179	0.12648	T	0.745225	0.36553	T	0.6494275	0.75333	0.6253157	0.78161	0.6466153	0.75184	0.58197755	0.75768	-3.388	0.14896	T	0.1892024969637232	0.24741	0.954	0.87315	P	.;.	.;.	4.662803	0.74439	26.2	0.99648405901556458	0.77130	0.99449	0.96169	D	AEFBI	0.808731	0.73242	D	0.436515050450158	0.63442	4.57802	0.493176228100971	0.67537	5.097294	0.999999306460853	0.74766	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.62	5.62	0.85714	6.637000	0.74162	7.937000	0.75328	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:0.0:1.0	15.825	0.78465	772	0.48957	SLC26A/SulP transporter domain;SLC26A/SulP transporter domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2751.98	34	chr7	107689054	.	T	C	2751.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=926;ExcessHet=0.0000;FS=3.102;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=0.544;SOR=0.944	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr7	107701183	107701183	T	C	exonic	SLC26A4	.	nonsynonymous SNV	SLC26A4:NM_000441:exon16:c.T1790C:p.L597S,	Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, Autosomal recessive;Pendred syndrome, Autosomal recessive	YES	6	1425	85	6	0	97	0.0329148	.	.	52694	Pendred_syndrome|Autosomal_recessive_nonsyndromic_hearing_loss_4|not_specified|not_provided	MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:705|MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791,Orphanet:90636|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.67	T	1.0	D	0.995	D	0.000	D	0.997	D	2.56	M	-3.23	D	0.778	D	0.855	D	0.949	3.900	19.83	5.72	2.189	6.396	16.000	0.848	.	0.0063	0.00858626	0.0083	0.0013	0.0025	0	0.0011	0.0075	0.0044	0.0272	0.008137	1258	154602	rs55638457	0.0086	0.0087	0.0078	0.0094	0.0294	0.0085	0.0084	0.0285	0.0281	0.0013	0.0026	0.0204	0	0.0008	0.0166	0.0078	0.0083	0.0294	0.0062	0.0062	0.0061	0.0064	0.0282	0.0059	0.0058	0.0244	0.0229	0.0011	0	0.0069	0.0202	0.0004	0.0010	0.0170	0.0081	0.0099	0.0282	0.002	0.72154	D	0.072	0.43344	T	0.999	0.77913	D	0.987	0.77487	D	0.000026	0.55875	D	0.000000	0.996546	0.43267	D	2.005	0.54552	M	-3.23	0.93414	D	-4.43	0.77554	D	0.751	0.75009	0.778	0.94144	D	0.855	0.95166	D	10	0.008705229	0.00197	T	.	.	.	0.848	0.95286	.	.	0.993411842951	0.99333	0.7146361969492586	0.71406	0.0744065334722	0.08345	0.599259257317	0.52800	T	0.52255	0.83330	D	0.109073	0.65256	D	0.404849	0.92270	D	0.0128156377420309	0.00218	T	0.80172	0.44782	T	0.655183	0.75640	0.7329923	0.84221	0.6963972	0.77861	0.72609085	0.83821	-11.425	0.81937	D	0.3751398837757109	0.47022	0.915	0.83794	P	.;.	.;.	5.023850	0.83509	28.1	0.99875485699813071	0.95244	0.96669	0.70311	D	AEBI	0.844122	0.76110	D	0.665602469293769	0.77382	6.663954	0.656390780406368	0.79086	7.008897	0.999997293239954	0.74766	0.559995	0.30671	0	0.59043	0.45803	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	5.72	5.72	0.89380	6.175000	0.71875	7.921000	0.74526	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.000	0.80080	772	0.48957	STAS domain|STAS domain;STAS domain|STAS domain	.	.	.	.	rs55638457	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	776.98	34	chr7	107701183	.	T	C	776.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=759;ExcessHet=0.0000;FS=2.002;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=-1.076e+00;SOR=0.782	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1157	20	0	1	0
chr7	107758768	107758768	C	T	exonic	CBLL1	.	nonsynonymous SNV	CBLL1:NM_001284291:exon6:c.C1063T:p.P355S	.	.	410	1105	7	0	0	7	0.00315742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.03	B	0.025	B	0.000	D	1.000	D	0.805	L	1.58	T	-1.107	T	0.058	T	0.179	1.638	11.43	3.91	1.123	6.771	15.074	0.045	0.00786724150452	0.0008	0.000399361	0.0009	0.0002	0.0004	0	0.0002	0.0014	0	0.0007	0.0009314	144	154602	rs141627101	0.0012	0.0012	0.0011	0.0013	0.0038	0.0011	0.0011	0.0026	0.0022	0.0004	0.0008	0.0003	0	0.0002	0.0038	0.0013	0.0014	0.0010	0.0008	0.0008	0.0009	0.0008	0.0014	0.0007	0.0007	0.0012	0.0011	0.0003	0	0.0004	0	0	9.443e-05	0.0136	0.0014	0.0028	0.0008	0.077	0.34095	T	0.293	0.21144	T	0.03	0.20002	B	0.025	0.20508	B	0.000318	0.45977	D	0.147246	0.997291	0.81001	D	1.3	0.32576	L	1.58	0.30937	T	-1.42	0.34992	N	0.236	0.28498	-1.1068	0.03359	T	0.058	0.24354	T	10	0.019974142	0.00453	T	0.007867	0.20877	T	0.045	0.12272	.	.	0.292942362817	0.28906	0.037039538264926224	0.03650	0.337854161108	0.35767	0.620581030846	0.55811	T	0.04395	0.26664	T	-0.478299	0.00757	T	-0.484447	0.23974	T	0.0293374223342877	0.01888	T	0.910809	0.68393	D	0.091110446	0.21340	0.12310912	0.29689	0.091110446	0.21340	0.12310912	0.29688	-3.885	0.22408	T	.	.	0.078	0.10256	B	.;.;.	.;.;.	2.126118	0.27065	17.33	0.96613849713025746	0.30452	0.94635	0.61812	D	AEFGBHCI	.	.	.	-0.126722023813466	0.36231	2.091487	0.0414890129603121	0.41661	2.506788	0.999860900249377	0.44398	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.81	3.91	0.44383	6.893000	0.75468	4.080000	0.41731	0.537000	0.25018	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.8571:0.1429:0.0	15.074	0.71731	755	0.51144	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1741.98	33	chr7	107758768	.	C	T	1741.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.870e-01;DP=841;ExcessHet=0.0000;FS=0.609;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=-1.247e+00;SOR=0.783	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1199	20	0	1	0
chr7	107940269	107940269	G	A	exonic	LAMB1	.	nonsynonymous SNV	LAMB1:NM_002291:exon25:c.C3481T:p.R1161C,	Lissencephaly 5, Autosomal recessive	.	0	1516	6	0	0	6	0.00197498	.	.	428654	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	D	3.735	H	-0.04	T	0.357	D	0.567	D	0.81	4.656	25.6	5.4	2.814	5.023	15.034	0.549	0.162162685987	7.7e-05	0.000199681	0.0005	9.615e-05	0.0002	0	0	0.0004	0.0011	0.0020	0.0004528	70	154602	rs146018013	0.0002	0.0002	0.0002	0.0003	0.0026	0.0002	0.0002	0.0016	0.0015	2.987e-05	0.0001	0.0018	0	0	0.0026	8.903e-05	0.0005	0.0019	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0004	0.0003	7.217e-05	0	0	0.0009	0	0	0	0.0002	0.0005	0.0010	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.995	0.92359	D	.	.	.	.	1	0.81001	D	4.125	0.97446	H	-0.04	0.63240	T	-6.5	0.91609	D	0.688	0.69913	0.357	0.88449	D	0.567	0.84308	D	9	0.36260283	0.52851	T	0.162163	0.84179	D	0.549	0.81310	.	.	0.819438898917	0.81773	0.8339373263145492	0.83352	0.545644546842	0.51589	0.510067224503	0.40232	T	0.369082	0.73386	T	-0.0771195	0.40180	T	0.109183	0.77519	D	0.582041501998901	0.35697	D	0.973003	0.90263	D	0.53498566	0.69114	0.49559188	0.70829	0.4742811	0.65553	0.48983976	0.70484	-11.082	0.80106	D	.	.	0.283	0.54492	B	.;.	.;.	5.865314	0.93873	33	0.99944533827279425	0.99868	0.90911	0.52495	D	AEFBHCI	0.786360	0.71646	D	0.936951981882765	0.93450	12.04674	0.8533853885205	0.93212	11.89589	0.999999999992788	0.74766	0.730579	0.87903	0	0.546412	0.12157	0	0.697927	0.64325	0	0.648885	0.59868	0	.	.	5.4	5.4	0.77957	5.313000	0.65584	11.895000	0.99196	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8574:0.1426	15.034	0.71390	727	0.54702	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2417.98	33	chr7	107940269	.	G	A	2417.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.670e-01;DP=870;ExcessHet=0.0000;FS=0.538;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=-2.338e+00;SOR=0.637	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1159	20	0	1	0
chr7	108095332	108095332	C	T	exonic	LAMB4	.	nonsynonymous SNV	LAMB4:NM_001318046:exon12:c.G1366A:p.D456N	.	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.001	B	0.002	B	0.034	N	0.997	N	0.03	N	0.11	T	-1.023	T	0.062	T	0.036	1.408	10.64	-4.93	-1.026	-0.538	7.473	0.077	0.00618760759927	.	.	1.7e-05	0	0	0	0	3.077e-05	0	0	1.29e-05	2	154602	rs754838790	2.125e-05	2.326e-05	1.637e-05	2.617e-05	2.52e-05	1.523e-05	1.327e-05	1.38e-05	1.153e-05	0	2.236e-05	0.0001	2.52e-05	0	0	2.073e-05	3.316e-05	1.161e-05	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.903	0.06204	T	1.0	0.07150	T	0.001	0.07471	B	0.002	0.06944	B	0.034079	0.24817	N	0.337088	0.996661	0.22942	N	-0.585	0.02270	N	0.11	0.61208	T	1.08	0.01595	N	0.048	0.03613	-1.0233	0.22638	T	0.062	0.25923	T	10	0.0283041	0.00964	T	0.006188	0.16229	T	0.077	0.22490	0.61	0.74300	0.0297737177859	0.01360	0.40406696655756613	0.40322	0.0625614042726	0.06963	0.232387810946	0.02150	T	0.045294	0.27077	T	-0.364864	0.03863	T	-0.631428	0.10307	T	0.0295007366988017	0.01913	T	0.633137	0.34984	T	0.042776063	0.06550	0.04172797	0.04809	0.042776063	0.06550	0.04172797	0.04809	-4.798	0.34568	T	.	.	0.059	0.01059	B	.;.;.	.;.;.	-0.112445	0.03568	0.690	0.82689351425872326	0.14323	0.00439	0.02144	N	AEFDBHCIJ	0.033549	0.04004	N	-1.38572197392753	0.02771	0.1228406	-1.36172784030514	0.03670	0.1716516	0.999996806821361	0.74766	0.428477	0.06694	0	0.48864	0.07623	0	0.547309	0.15389	0	0.648885	0.59868	0	.	.	4.79	-4.93	0.02839	-0.525000	0.06302	-2.553000	0.03616	-0.177000	0.10537	0.043000	0.21118	0.000000	0.08366	0.984000	0.60418	0.1145:0.44:0.0:0.4455	7.473	0.26531	700	0.57880	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	887.98	33	chr7	108095332	.	C	T	887.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=759;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.00;ReadPosRankSum=3.64;SOR=0.773	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1146	20	0	1	0
chr7	108479241	108479241	A	G	exonic	PNPLA8	.	nonsynonymous SNV	PNPLA8:NM_001256008:exon9:c.T2017C:p.Y673H	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.001	B	0.006	B	0.437	N	1.000	N	0.665	N	-1.16	T	-0.938	T	0.206	T	0.12	0.075	4.407	-4.62	-0.495	1.027	9.741	0.176	0.0109233350447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	0.12632	T	0.462	0.12740	T	0.001	0.07471	B	0.006	0.12133	B	0.436884	0.12677	N	0.734180	1	0.08975	N	1.01	0.25309	L	-1.16	0.78082	T	-0.5	0.15782	N	0.292	0.33687	-0.9383	0.42885	T	0.206	0.56458	T	10	0.06821743	0.09616	T	0.010923	0.28000	T	0.176	0.44373	0.488	0.57257	0.355865052028	0.35192	0.5755578790656948	0.57484	0.103210801654	0.11672	0.353793740273	0.18479	T	0.121822	0.44506	T	-0.146893	0.28798	T	-0.448778	0.27832	T	0.0662964805960655	0.08121	T	0.716128	0.37818	T	0.027391626	0.01923	0.04164508	0.04779	0.027391626	0.01923	0.04164508	0.04778	-2.764	0.18074	T	.	.	0.103	0.18622	B	.;.;.;.;.;.	.;.;.;.;.;.	1.278870	0.16785	12.76	0.42346463604481188	0.03115	0.27805	0.23379	N	AEFBI	0.059018	0.11114	N	-1.17969117384478	0.05307	0.2416424	-1.19538105798408	0.05986	0.286827	9.7987050432322E-4	0.08079	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.6	-4.62	0.03129	1.028000	0.29734	1.522000	0.27099	-0.121000	0.13915	0.578000	0.27570	0.068000	0.22166	0.868000	0.41282	0.432:0.1006:0.4674:0.0	9.741	0.39585	804	0.43891	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	835.98	34	chr7	108479241	.	A	G	835.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.040e-01;DP=808;ExcessHet=0.0000;FS=1.653;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.28;ReadPosRankSum=-1.249e+00;SOR=0.511	GT:AD:DP:GQ:PL	0/1:62,39:101:99:850,0,1616	20	0	1	0
chr7	108497552	108497552	G	C	exonic	PNPLA8	.	nonsynonymous SNV	PNPLA8:NM_001256008:exon5:c.C1384G:p.R462G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.889	P	0.591	P	0.001	D	0.999	N	1.895	L	2.32	T	-1.043	T	0.065	T	0.708	2.999	16.00	1.32	-0.052	1.674	15.480	0.193	0.0160360515886	.	.	.	.	.	.	.	.	.	.	.	.	.	rs762607088	2.742e-06	2.736e-06	1.364e-06	4.134e-06	1.164e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.702e-06	0	1.164e-05	6.577e-06	6.569e-06	0	1.347e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.005	0.63226	D	0.015	0.61642	D	0.889	0.48869	P	0.591	0.50479	P	0.000750	0.42006	D	0.204146	0.998927	0.21792	N	1.83	0.48079	L	2.32	0.16640	T	-4.27	0.76254	D	0.681	0.73015	-1.0432	0.16354	T	0.065	0.26807	T	10	0.38207084	0.54268	T	0.016036	0.37096	T	0.193	0.47281	0.589	0.71749	0.265929055128	0.26215	0.7073690292684884	0.70678	0.483770202929	0.47312	0.331278026104	0.15128	T	0.733757	0.92569	D	-0.0923975	0.37681	T	-0.269869	0.47831	T	0.902930974960327	0.55602	D	0.964504	0.86917	D	0.46331137	0.64877	0.3533899	0.60901	0.46331137	0.64877	0.3533899	0.60900	-10.955	0.83114	D	.	.	0.444	0.61897	A	.;.;.;.;.;.	.;.;.;.;.;.	3.868247	0.56145	23.7	0.99561955453019102	0.71831	0.65709	0.32828	D	AEFGBCI	0.455647	0.50784	N	-0.00393742349559354	0.41677	2.497178	-0.0886484853728884	0.35857	2.07961	0.00460739804388586	0.10636	0.743674	0.98306	0	0.635938	0.57008	0	0.630245	0.45026	0	0.691587	0.68394	0	.	.	5.46	1.32	0.20897	2.636000	0.46211	2.234000	0.31556	0.676000	0.76740	0.997000	0.40164	0.994000	0.32194	0.988000	0.63387	0.0:0.0:0.4021:0.5979	15.480	0.75249	859	0.33891	.;Patatin-like phospholipase domain|Patatin-like phospholipase domain;Patatin-like phospholipase domain|Patatin-like phospholipase domain;.;Patatin-like phospholipase domain|Patatin-like phospholipase domain;Patatin-like phospholipase domain|Patatin-like phospholipase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	259.98	33	chr7	108497552	.	G	C	259.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.314;DP=715;ExcessHet=0.0000;FS=1.470;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.12;ReadPosRankSum=0.097;SOR=1.179	GT:AD:DP:GQ:PL	0/0:29,0:29:75:0,75,1125	20	0	1	0
chr7	108571844	108571844	C	T	exonic	DNAJB9	.	nonsynonymous SNV	DNAJB9:NM_012328:exon2:c.C118T:p.R40C,	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.995	D	0.000	D	1.000	D	2.27	M	1.52	T	-0.783	T	0.188	T	0.791	4.765	26.7	4.45	1.209	3.008	14.660	0.311	0.0795097409136	7.7e-05	0.000399361	8.24e-06	0	0	0	0	1.499e-05	0	0	1.94e-05	3	154602	rs141827302	2.736e-05	2.736e-05	2.722e-05	2.75e-05	0.0002	2.062e-05	1.816e-05	2.201e-05	1.942e-05	5.974e-05	4.472e-05	0	2.52e-05	0	0.0002	3.058e-05	0	0	6.57e-05	6.562e-05	7.713e-05	5.374e-05	0.0004	3.516e-05	2.616e-05	8.87e-05	5.281e-05	0	0	0.0003	0	0.0004	0	0	5.882e-05	0	0	0.002	0.72154	D	0.015	0.61642	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.915	0.51223	L	1.52	0.30669	T	-5.31	0.84457	D	0.629	0.64308	-0.7833	0.56115	T	0.188	0.53886	T	9	0.4037773	0.55750	T	0.07951	0.73251	D	0.311	0.63269	.	.	0.396044805602	0.39223	0.5451437094203764	0.54440	0.0801878685047	0.09027	0.787258386612	0.80025	T	0.333587	0.70342	T	-0.0461042	0.45037	T	-0.122474	0.61599	T	0.847543656826019	0.49955	D	0.986201	0.95317	D	0.5866803	0.71972	0.5466279	0.73792	0.5866803	0.71973	0.5466279	0.73792	-13.749	0.92212	D	.	.	0.575	0.67844	P	.	.	4.994346	0.82817	27.9	0.99929305051392381	0.99279	0.87720	0.47355	D	AEFDBHCI	0.815309	0.73732	D	0.527406067529529	0.68717	5.25568	0.48261800179724	0.66839	5.004542	0.999999999672943	0.74766	0.660085	0.49399	0	0.672317	0.65289	0	0.643519	0.47002	0	0.651492	0.60203	0	.	.	5.34	4.45	0.53365	3.069000	0.49724	2.788000	0.34778	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1459:0.8541:0.0:0.0	14.660	0.68467	868	0.31772	DnaJ domain|DnaJ domain|DnaJ domain|DnaJ domain|DnaJ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1120.98	42	chr7	108571844	.	C	T	1120.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.08;DP=967;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.48;ReadPosRankSum=1.27;SOR=0.646	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1620	20	0	1	0
chr7	108573295	108573295	C	T	exonic	DNAJB9	.	nonsynonymous SNV	DNAJB9:NM_012328:exon3:c.C614T:p.T205I,	.	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998	D	0.994	D	0.000	D	1.000	D	2.255	M	0.04	T	-0.225	T	0.451	T	0.826	4.360	23.0	5.86	2.776	7.377	19.190	0.417	0.0503463943153	7.7e-05	0.00159744	0.0011	9.919e-05	0.0003	0	0	1.508e-05	0.0045	0.0076	0.0008926	138	154602	rs149830505	0.0005	0.0005	0.0003	0.0007	0.0075	0.0004	0.0004	0.0070	0.0068	0	2.256e-05	0	0	0	0.0002	1.08e-05	0.0005	0.0075	0.0003	0.0003	0.0002	0.0005	0.0087	0.0003	0.0002	0.0066	0.0059	4.813e-05	0	0.0001	0	0	0	0	8.822e-05	0	0.0087	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.135	0.59519	M	0.04	0.62051	T	-3.55	0.68764	D	0.701	0.70527	-0.2253	0.77011	T	0.451	0.78526	T	9	0.011724949	0.00255	T	0.050346	0.64202	D	0.417	0.72705	.	.	0.871338674743	0.87008	0.6388483140659577	0.63818	0.0804335868043	0.09048	0.837632000446	0.87733	D	0.201927	0.55995	T	-0.0950034	0.37250	T	0.0950427	0.76579	D	0.124678432114268	0.14882	T	0.943706	0.78720	D	0.67723936	0.76820	0.6201236	0.77873	0.67723936	0.76822	0.6201236	0.77874	-10.827	0.78701	D	.	.	0.958	0.87815	P	.	.	4.763672	0.77037	26.6	0.99887909880658698	0.96281	0.99094	0.91137	D	AEFDBI	0.926250	0.90706	D	0.836727476226969	0.88341	9.541633	0.834286892232093	0.92065	11.21757	0.999999999999999	0.74766	0.706548	0.73137	0	0.662677	0.63036	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	5.86	0.93936	7.457000	0.79807	7.582000	0.60992	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.190	0.93648	865	0.32612	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1303.98	37	chr7	108573295	.	C	T	1303.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.897;DP=834;ExcessHet=0.0000;FS=2.304;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.95;ReadPosRankSum=-1.190e-01;SOR=0.948	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr7	110886658	110886658	G	A	exonic	IMMP2L	.	nonsynonymous SNV	IMMP2L:NM_032549:exon5:c.C343T:p.R115C	.	.	419	1102	1	0	0	1	0.000453515	.	.	722249	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.83	P	0.109	B	0.001	N	1.000	D	2.63	M	.	.	-0.536	T	0.166	T	0.455	3.480	17.80	5.58	2.625	5.345	19.551	0.171	.	0.0015	0.00119808	0.0004	0.0041	0.0002	0	0	4.507e-05	0	0	0.000414	64	154602	rs34279428	0.0001	0.0001	0.0001	0.0001	0.0051	0.0001	0.0001	0.0045	0.0042	0.0051	0.0001	0	0	0	0	1.447e-05	0.0002	1.162e-05	0.0013	0.0013	0.0014	0.0012	0.0046	0.0012	0.0011	0.0041	0.0039	0.0046	0	0.0001	0	0	0	0	4.414e-05	0.0009	0	0.011	0.61437	D	0.035	0.70582	D	0.83	0.46087	P	0.109	0.31370	B	0.001468	0.38917	N	0.287736	0.999255	0.48800	D	2.345	0.67358	M	.	.	.	-4.08	0.75695	D	0.529	0.55799	-0.5356	0.67330	T	0.166	0.50356	T	9	0.014022827	0.00296	T	.	.	.	0.171	0.43483	.	.	0.660250038783	0.65740	0.5337411138613091	0.53299	0.388330317616	0.40095	0.390978336334	0.23807	T	0.641629	0.89018	D	-0.282572	0.10397	T	-0.17813	0.56697	T	0.0782475171148081	0.09762	T	0.985101	0.94867	D	0.21074416	0.43380	0.20973466	0.45331	0.21074416	0.43380	0.20973466	0.45330	-7.312	0.56281	T	.	.	0.302	0.53135	B	.;.;.;.	.;.;.;.	4.929330	0.81258	27.5	0.99819102710340923	0.90238	0.92877	0.56766	D	AEFI	0.798821	0.72526	D	0.489315366690386	0.66463	4.953572	0.547792537192915	0.71244	5.625338	0.638107337056266	0.22028	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.58	5.58	0.84361	5.614000	0.67376	9.734000	0.81410	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.551	0.95314	639	0.64210	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2470.98	36	chr7	110886658	.	G	A	2470.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.531;DP=923;ExcessHet=0.0000;FS=0.507;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=0.924;SOR=0.750	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1394	20	0	1	0
chr7	110886666	110886666	T	C	exonic	IMMP2L	.	nonsynonymous SNV	IMMP2L:NM_032549:exon5:c.A335G:p.K112R	.	.	420	1095	6	1	0	8	0.00363967	.	.	3208172	IMMP2L-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.67	T	0.002	B	0.012	B	0.000	N	1.000	D	0.08	N	.	.	-1.070	T	0.065	T	0.125	2.097	12.97	0.414	-0.148	0.598	9.663	0.088	.	.	0.00139776	0.0017	9.617e-05	0.0004	0	0	9.017e-05	0.0033	0.0114	0.0014165	219	154602	rs200836792	0.0008	0.0008	0.0005	0.0010	0.0104	0.0007	0.0007	0.0098	0.0096	3.014e-05	0.0004	0	0	0	0.0010	9.616e-05	0.0011	0.0104	0.0004	0.0004	0.0003	0.0005	0.0091	0.0003	0.0003	0.0070	0.0062	9.625e-05	0	0.0002	0	0	0	0.0034	0.0002	0	0.0091	0.549	0.09514	T	0.749	0.23365	T	0.002	0.09854	B	0.012	0.16012	B	0.000013	0.62929	N	0.147879	0.976498	0.27063	N	0.415	0.12483	N	.	.	.	-0.22	0.10480	N	0.223	0.25006	-1.0695	0.09523	T	0.065	0.26983	T	9	0.009037107	0.00205	T	.	.	.	0.088	0.25558	.	.	0.3349148499	0.33108	0.33534223347946146	0.33447	0.11506021578	0.12980	0.315772652626	0.12780	T	0.087393	0.37932	T	-0.552624	0.00281	T	-0.557187	0.16642	T	0.0130221574993659	0.00227	T	0.788521	0.42806	T	0.05327822	0.10058	0.054215528	0.09283	0.05327822	0.10058	0.054215528	0.09283	-3.643	0.18481	T	.	.	0.083	0.09917	B	.;.;.;.	.;.;.;.	0.617529	0.09862	6.622	0.99194142721685719	0.55083	0.66508	0.33103	D	AEFI	0.160326	0.28625	N	-0.850501583370816	0.12038	0.5843677	-0.663273397227511	0.17882	0.952834	1.59830198516366E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.58	0.414	0.15624	0.668000	0.24808	0.446000	0.18474	-0.817000	0.03001	0.999000	0.42656	0.999000	0.35428	0.888000	0.42677	0.0:0.2617:0.0:0.7383	9.663	0.39132	639	0.64210	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2641.98	36	chr7	110886666	.	T	C	2641.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.726e+00;DP=949;ExcessHet=0.0000;FS=1.015;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-3.160e-01;SOR=0.782	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1394	20	0	1	0
chr7	111122864	111122864	G	A	exonic	LRRN3	.	nonsynonymous SNV	LRRN3:NM_018334:exon2:c.G92A:p.R31Q	.	.	432	1085	4	1	0	6	0.00275735	.	.	699749	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.74	T	0.0	B	0.001	B	0.310	N	1.000	N	-0.145	N	-4.06	D	-0.491	T	0.358	T	0.259	-0.283	2.645	0.942	0.136	2.881	8.346	0.328	.	0.0002	0.00978435	0.0075	0.0003	0.0722	0.0064	0	0.0001	0.0011	0.0007	0.0072121	1115	154602	rs186329804	0.0024	0.0024	0.0027	0.0020	0.0609	0.0023	0.0023	0.0590	0.0582	0.0003	0.0609	3.827e-05	0.0114	0	0.0007	6.386e-05	0.0022	0.0006	0.0043	0.0043	0.0035	0.0051	0.0376	0.0040	0.0039	0.0351	0.0341	0.0006	0	0.0376	0	0.0062	0	0	0.0001	0.0043	0.0010	0.67	0.04561	T	0.62	0.07972	T	0.0	0.02946	B	0.001	0.04355	B	0.309509	0.14458	N	0.632628	0.999999	0.58761	D	-1.01	0.01154	N	-4.06	0.96529	D	0.33	0.03889	N	0.096	0.07673	-0.4910	0.68973	T	0.358	0.72061	T	10	0.0031238496	0.00052	T	.	.	.	0.328	0.65026	.	.	0.541484462481	0.53801	0.1035811217074937	0.10288	0.258577922938	0.28418	0.21241697669	0.00918	T	0.002311	0.01710	T	-0.328934	0.06192	T	-0.198153	0.54822	T	0.00234503173460957	0.00024	T	0.253675	0.06803	T	0.03389035	0.03698	0.03859036	0.03760	0.03389035	0.03698	0.03859036	0.03760	-3.509	0.16557	T	.	.	0.058	0.02257	B	.;.;.;.	.;.;.;.	1.316510	0.17203	13.02	0.84370985193853199	0.15253	0.32858	0.24687	N	AEFGBI	0.026781	0.02071	N	-0.770272381231916	0.14090	0.6990436	-0.558908261407429	0.20569	1.108814	3.45047923363698E-4	0.06626	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.98	0.942	0.18648	2.868000	0.48134	3.269000	0.37146	-0.046000	0.17342	0.998000	0.41325	0.978000	0.30204	0.988000	0.63387	0.6285:0.2443:0.1272:0.0	8.346	0.31437	628	0.65206	Leucine-rich repeat N-terminal domain;Leucine-rich repeat N-terminal domain;Leucine-rich repeat N-terminal domain;Leucine-rich repeat N-terminal domain|Leucine-rich repeat N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2959.98	33	chr7	111122864	.	G	A	2959.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.860e-01;DP=933;ExcessHet=0.0000;FS=0.994;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-1.450e-01;SOR=0.795	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1196	20	0	1	0
chr7	111741540	111741540	C	T	exonic	DOCK4	.	nonsynonymous SNV	DOCK4:NM_014705:exon45:c.G4892A:p.S1631N	.	.	.	.	.	.	.	.	.	0.9993	0.872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99	D	0.944	D	0.000	D	1.000	D	1.935	M	3.91	T	-1.203	T	0.065	T	0.14	4.712	26.2	5.24	2.713	7.037	19.008	0.156	0.00468857158762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.005	0.72224	D	0.983	0.60381	D	0.881	0.62579	P	0.000000	0.84330	D	0.118903	0.999995	0.58761	D	1.545	0.39105	L	3.91	0.03516	T	-0.66	0.19085	N	0.528	0.58458	-1.2031	0.00128	T	0.065	0.26772	T	9	0.415831	0.56534	T	0.004689	0.11660	T	0.156	0.40720	0.21	0.12781	0.428492896387	0.42465	0.741024583692677	0.74047	0.309704326194	0.33277	0.70537006855	0.67921	T	0.131628	0.46123	T	-0.201522	0.20586	T	-0.527249	0.19563	T	0.824539427125379	0.48112	D	0.926307	0.72903	D	0.36118373	0.57926	0.27499816	0.53433	0.36118373	0.57927	0.27499816	0.53432	-4.235	0.27284	T	.	.	0.287	0.59091	B	.;.	.;.	5.922675	0.94072	33	0.99611033136929361	0.74813	0.95714	0.65843	D	AEFBCI	0.895204	0.83498	D	0.733949544071564	0.81858	7.621623	0.73896048459938	0.85331	8.548392	0.999999999983772	0.74766	0.67177	0.52595	0	0.547309	0.14657	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	5.24	5.24	0.72863	7.106000	0.76681	7.607000	0.61769	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.008	0.92839	889	0.27310	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1538.98	34	chr7	111741540	.	C	T	1538.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.129e+00;DP=789;ExcessHet=0.0000;FS=3.749;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.94;ReadPosRankSum=0.302;SOR=0.960	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1077	20	0	1	0
chr7	111989163	111989163	G	A	exonic	DOCK4	.	nonsynonymous SNV	DOCK4:NM_001363540:exon6:c.C316T:p.R106C	.	.	425	1092	5	0	0	5	0.00228415	0.0003	0.182	722255	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.997	D	0.676	P	0.000	D	1.000	D	1.445	L	4.04	T	-1.023	T	0.017	T	0.594	2.357	13.84	2.89	0.401	5.478	7.663	0.221	.	0.0019	.	0.0021	0.0008	0.0003	0	0.0051	0.0031	0.0011	0.0002	0.0020116	311	154602	rs202246313	0.0027	0.0027	0.0028	0.0027	0.0031	0.0027	0.0026	0.0030	0.0030	0.0004	0.0002	0.0056	5.038e-05	0.0041	0.0003	0.0031	0.0025	0.0002	0.0021	0.0021	0.0020	0.0022	0.0031	0.0019	0.0019	0.0028	0.0026	0.0007	0	0.0005	0.0060	0	0.0049	0	0.0031	0.0009	0.0004	0.016	0.51853	D	0.002	0.83351	D	0.997	0.70673	D	0.586	0.50343	P	0.000006	0.62929	D	0.143577	0.999885	0.50402	D	0.345	0.11182	N	4.04	0.03121	T	-3.17	0.64363	D	0.705	0.72746	-1.0226	0.22866	T	0.017	0.07092	T	10	0.009928405	0.00223	T	0.020851	0.43523	T	0.221	0.51721	.	.	0.509625900108	0.50601	0.7442741760080872	0.74373	0.876816499793	0.69608	0.80441904068	0.82637	D	0.288136	0.66093	T	-0.41273	0.01907	T	-0.369312	0.36970	T	0.0342424631010544	0.02679	T	0.962104	0.86445	D	0.20278636	0.42334	0.1394516	0.33271	0.20278636	0.42334	0.1394516	0.33270	-7.588	0.58227	D	.	.	0.268	0.50232	B	.;.;.	.;.;.	4.576143	0.72242	25.8	0.99633501775418665	0.76203	0.95212	0.63853	D	AEFBI	0.809311	0.73285	D	-0.139811075498024	0.35669	2.051785	-0.181743184973441	0.32207	1.830124	0.999770453735494	0.42865	0.722319	0.85440	0	0.588015	0.36545	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	5.27	2.89	0.32713	5.695000	0.67940	5.099000	0.47419	-0.124000	0.13482	1.000000	0.71638	1.000000	0.68203	0.531000	0.29730	0.0:0.0741:0.1438:0.7821	7.663	0.27584	722	0.55239	.;Dedicator of cytokinesis, N-terminal domain;Dedicator of cytokinesis, N-terminal domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1296.98	33	chr7	111989163	.	G	A	1296.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.490e-01;DP=831;ExcessHet=0.0000;FS=2.991;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.08;ReadPosRankSum=0.258;SOR=0.407	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	20	0	1	0
chr7	113877833	113877833	T	C	exonic	PPP1R3A	.	nonsynonymous SNV	PPP1R3A:NM_002711:exon4:c.A3259G:p.I1087V,	Insulin resistance, severe, digenic, Autosomal dominant	.	2	1517	3	0	0	3	0.000987817	.	.	380218	Monogenic_diabetes	MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.535	N	1.000	N	-1.1	N	2.59	T	-0.948	T	0.002	T	0.011	-1.885	0.008	1.73	0.407	-0.138	6.212	0.027	.	0.0078	0.00878594	0.0024	0.0271	0.0011	0	0	1.506e-05	0.0011	0	0.0023609	365	154602	rs77456357	0.0007	0.0007	0.0008	0.0006	0.0256	0.0007	0.0007	0.0242	0.0236	0.0256	0.0016	0	0	5.624e-05	0.0017	1.263e-05	0.0017	5.805e-05	0.0074	0.0074	0.0078	0.0069	0.0249	0.0070	0.0069	0.0236	0.0231	0.0249	0	0.0047	0	0	0	0.0034	2.943e-05	0.0047	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.535134	0.11595	N	0.777423	1	0.08975	N	-1.655	0.00384	N	2.59	0.13317	T	0.24	0.04533	N	0.036	0.01068	-0.9484	0.41245	T	0.002	0.00556	T	10	0.0032697022	0.00056	T	.	.	.	0.027	0.05988	.	.	0.311691414656	0.30774	0.14875443885196615	0.14797	0.03888108303	0.04135	0.366930782795	0.20390	T	0.074485	0.34948	T	-0.772212	0.00012	T	-0.863082	0.00810	T	0.00236553781470215	0.00024	T	0.150785	0.01278	T	0.024582654	0.01305	0.027790096	0.00959	0.025673524	0.01531	0.031080477	0.01647	-2.612	0.06595	T	.	.	0.068	0.02927	B	.	.	-0.049798	0.03950	0.883	0.32219653544029903	0.01856	0.06046	0.12015	N	AEI	0.040097	0.05916	N	-1.12260309960136	0.06242	0.2868412	-0.871656918258421	0.12768	0.6586735	1.61980774038525E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.85	1.73	0.23565	-0.122000	0.10602	-0.165000	0.11284	-0.806000	0.03109	0.882000	0.31029	0.005000	0.19230	0.880000	0.42090	0.0947:0.5395:0.2446:0.1212	6.212	0.19846	803	0.44167	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.04762	3103.11	37	chr7	113877833	.	T	C	3103.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.872;DP=946;ExcessHet=0.1072;FS=2.006;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=0.668;SOR=0.831	GT:AD:DP:GQ:PL	0/1:82,62:144:99:1484,0,2042	19	0	2	0
chr7	113878048	113878048	T	C	exonic	PPP1R3A	.	nonsynonymous SNV	PPP1R3A:NM_002711:exon4:c.A3044G:p.N1015S,	Insulin resistance, severe, digenic, Autosomal dominant	.	2	1516	4	0	0	4	0.00131752	.	.	380219	Monogenic_diabetes	MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.000	N	1.000	N	-1.575	N	2.96	T	-0.929	T	0.001	T	0.008	-2.616	0	3.46	0.150	0.191	7.645	0.207	.	0.0078	0.00878594	0.0024	0.0272	0.0010	0	0	1.501e-05	0.0011	0	0.0023674	366	154602	rs149701175	0.0007	0.0007	0.0008	0.0006	0.0258	0.0007	0.0007	0.0243	0.0238	0.0258	0.0016	0	0	0	0.0017	1.169e-05	0.0017	4.638e-05	0.0074	0.0074	0.0078	0.0069	0.0249	0.0070	0.0069	0.0236	0.0231	0.0249	0	0.0047	0	0	0	0.0034	2.944e-05	0.0047	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000015	0.62929	N	0.072255	0.999991	0.08975	N	-1.08	0.01032	N	2.96	0.09542	T	1.0	0.01408	N	0.053	0.02462	-0.9287	0.44328	T	0.001	0.00408	T	10	0.0026070774	0.00040	T	.	.	.	0.207	0.49555	.	.	0.167679373172	0.16340	0.05992063532502244	0.05932	0.0376571858437	0.03997	0.248303443193	0.03591	T	0.092463	0.39010	T	-0.777386	0.00011	T	-0.869841	0.00744	T	0.00382190171224252	0.00040	T	0.244176	0.03564	T	0.030320479	0.02674	0.04421515	0.05680	0.03207741	0.03164	0.041361663	0.04684	-2.561	0.06212	T	.	.	0.048	0.00092	B	.	.	-0.054144	0.03923	0.868	0.098886851743402768	0.00111	0.04283	0.09824	N	AEFI	0.046324	0.07681	N	-1.2716290203423	0.04021	0.1807302	-1.08428062319663	0.08009	0.391976	9.67714788612843E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.71	3.46	0.38718	0.214000	0.17331	0.517000	0.19131	-0.171000	0.11205	0.892000	0.31242	0.071000	0.22219	0.388000	0.26514	0.0:0.7004:0.1275:0.1721	7.645	0.27484	803	0.44167	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	3320.11	37	chr7	113878048	.	T	C	3320.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.74;DP=964;ExcessHet=0.1072;FS=1.398;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=1.27;SOR=0.711	GT:AD:DP:GQ:PL	0/1:81,64:145:99:1624,0,2006	19	0	2	0
chr7	113879378	113879378	T	C	exonic	PPP1R3A	.	nonsynonymous SNV	PPP1R3A:NM_002711:exon4:c.A1714G:p.I572V,	Insulin resistance, severe, digenic, Autosomal dominant	.	1	1518	3	0	0	3	0.000987167	.	.	380224	Monogenic_diabetes	MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.82	T	0.001	B	0.0	B	0.819	N	1.000	N	0.92	L	2.43	T	-0.963	T	0.004	T	0.008	1.075	9.387	-2.49	-0.675	-3.155	7.668	0.011	.	0.0078	0.00878594	0.0024	0.0269	0.0010	0	0	1.5e-05	0.0011	0	0.0023674	366	154602	rs35398707	0.0007	0.0007	0.0008	0.0006	0.0258	0.0007	0.0007	0.0244	0.0238	0.0258	0.0016	0	0	0	0.0017	9.894e-06	0.0017	4.637e-05	0.0074	0.0074	0.0078	0.0069	0.0250	0.0070	0.0069	0.0237	0.0232	0.0250	0	0.0047	0	0	0	0.0034	2.942e-05	0.0047	0.0004	0.263	0.16412	T	1.0	0.01155	T	0.001	0.07471	B	0.0	0.01387	B	0.819406	0.06875	N	1.082130	1	0.08975	N	0.665	0.16292	N	2.43	0.15261	T	-0.19	0.09965	N	0.037	0.01135	-0.9625	0.38704	T	0.004	0.01470	T	10	0.004051864	0.00079	T	.	.	.	0.011	0.01250	.	.	0.248417906384	0.24464	0.06968805825191646	0.06906	0.0392707081653	0.04187	0.204850181937	0.00611	T	0.067599	0.33242	T	-0.791876	0.00009	T	-0.891328	0.00565	T	0.00747437426451947	0.00086	T	0.288071	0.05188	T	0.027517054	0.01954	0.03079616	0.01580	0.026632449	0.01745	0.028771527	0.01144	-3.05	0.10730	T	.	.	0.073	0.04599	B	.	.	-1.775577	0.00166	0.002	0.27719203068987647	0.01389	0.01439	0.04834	N	AEFBI	0.071112	0.14143	N	-1.65214074451169	0.01026	0.04449173	-1.66048668601567	0.01322	0.05968186	2.58551790538712E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.95	-2.49	0.06034	-2.239000	0.01281	-6.418000	0.01404	-0.996000	0.01829	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4377:0.1214:0.4409	7.668	0.27611	802	0.44336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4529.11	124	chr7	113879378	.	T	C	4529.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.95;DP=2936;ExcessHet=0.1072;FS=9.329;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.07;ReadPosRankSum=1.15;SOR=1.112	GT:AD:DP:GQ:PL	0/1:72,79:151:99:2249,0,1805	19	0	2	0
chr7	113879714	113879714	G	T	exonic	PPP1R3A	.	nonsynonymous SNV	PPP1R3A:NM_002711:exon4:c.C1378A:p.Q460K,	Insulin resistance, severe, digenic, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.84	T	0.146	B	0.057	B	0.621	N	1.000	N	1.935	M	2.37	T	-0.972	T	0.060	T	0.19	2.115	13.03	2.95	1.437	0.876	5.207	0.030	0.00955670565151	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1396740251	3.422e-06	5.472e-06	5.448e-06	1.376e-06	0.0001	1e-06	7.3e-07	4.908e-05	3.166e-05	0	0	0	0.0001	0	0	0	0	0	6.585e-06	6.569e-06	1.287e-05	0	6.573e-05	0	0	.	.	0	0	6.573e-05	0	0	0	0	0	0	0	0.004	0.65419	D	0.866	0.48594	T	0.146	0.27821	B	0.057	0.26280	B	0.620980	0.10778	N	0.821133	1	0.08975	N	2.075	0.57047	M	2.37	0.32958	T	-0.66	0.47514	N	0.148	0.15046	-0.9717	0.36841	T	0.060	0.25054	T	10	0.07521218	0.11595	T	0.009557	0.25016	T	0.030	0.07022	0.322	0.30226	0.445210270852	0.44144	0.18262316888964672	0.18181	0.0667487109493	0.07447	0.229203015566	0.01909	T	0.131897	0.46166	T	-0.338822	0.05471	T	-0.555342	0.16816	T	0.075347449265017	0.09381	T	0.612539	0.23323	T	0.124239214	0.29155	0.0885527	0.20653	0.124239214	0.29155	0.0885527	0.20652	-3.131	0.11656	T	.	.	0.088	0.11701	B	.;.	.;.	1.196053	0.15877	12.17	0.87693852200035416	0.17413	0.14088	0.18216	N	AEFBI	0.110884	0.21972	N	-0.706488490639925	0.15839	0.8018076	-0.715074274288545	0.16586	0.8780871	4.82369979583751E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.77	2.95	0.33285	1.314000	0.33202	5.831000	0.50164	0.676000	0.76740	0.002000	0.15269	0.993000	0.31925	0.490000	0.28791	0.1675:0.1928:0.6397:0.0	5.207	0.14620	801	0.44448	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2204.98	119	chr7	113879714	.	G	T	2204.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.918e+00;DP=2879;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.90;ReadPosRankSum=2.54;SOR=0.746	GT:AD:DP:GQ:PL	0/0:136,0:136:99:0,120,1800	20	0	1	0
chr7	116699194	116699194	T	C	exonic	MET	.	nonsynonymous SNV	MET:NM_000245:exon2:c.T110C:p.V37A	Hepatocellular carcinoma, childhood type, somatic;Renal cell carcinoma, papillary, 1, familial and somatic	.	0	1516	5	1	0	7	0.00230339	.	.	50049	not_specified|Renal_cell_carcinoma|Hereditary_cancer|Hereditary_cancer-predisposing_syndrome|Papillary_renal_cell_carcinoma_type_1|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0005584,Human_Phenotype_Ontology:HP:0006720,MONDO:MONDO:0005086,MeSH:D002292,MedGen:C0007134,Orphanet:217071|MedGen:C1333600|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human_Phenotype_Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.267	B	0.108	B	0.000	D	1.000	D	2.2	M	2.64	T	-0.445	T	0.353	T	0.333	1.400	10.62	5.9	2.264	5.528	12.801	0.142	0.0291073682577	8.2e-05	0.00119808	0.0011	0	0	0	0	0.0001	0.0011	0.0076	0.0009314	144	154602	rs201315884	0.0006	0.0006	0.0004	0.0008	0.0070	0.0005	0.0005	0.0065	0.0063	2.988e-05	4.475e-05	0.0013	0	0	0.0016	0.0001	0.0008	0.0070	0.0002	0.0002	0.0002	0.0003	0.0052	0.0002	0.0002	0.0036	0.0031	2.406e-05	0	6.541e-05	0.0009	0	0	0	0.0001	0	0.0052	0.032	0.44694	D	0.078	0.46862	T	0.113	0.26349	B	0.031	0.31289	B	0.000007	0.62929	D	0.062168	0.503033	0.31757	D	1.79	0.46772	L	2.64	0.73311	T	-0.72	0.35792	N	0.276	0.33469	-0.4450	0.70565	T	0.353	0.71619	T	10	0.005613953	0.00124	T	0.029107	0.51676	D	0.142	0.37995	.	.	0.35158688536	0.34763	0.4757574709307922	0.47494	0.399774121659	0.40994	0.340591311455	0.16527	T	0.379824	0.74249	T	-0.333396	0.05858	T	-0.247812	0.50034	T	0.0470295077618543	0.04971	T	0.573243	0.20505	T	0.090709254	0.21233	0.098195896	0.23403	0.083677694	0.19332	0.1066093	0.25650	-5.846	0.44973	T	0.32103672873341865	0.41917	0.263	0.49778	B	.;.;.;.	.;.;.;.	3.411769	0.47334	22.4	0.98606696957422291	0.43585	0.96974	0.71966	D	AEFDGBHCI	0.583254	0.58255	D	0.122565792576668	0.47518	2.976309	0.244613026578497	0.52343	3.409818	0.999999999992328	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.675528	0.61593	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	5.573000	0.67117	6.203000	0.54917	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.838000	0.39538	0.0:0.0:0.1363:0.8637	12.801	0.56967	636	0.64483	Sema domain;Sema domain;Sema domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1711.98	49	chr7	116699194	.	T	C	1711.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.453;DP=859;ExcessHet=0.0000;FS=2.928;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.84;ReadPosRankSum=-7.880e-01;SOR=0.468	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1110	20	0	1	0
chr7	117384751	117384751	A	G	exonic	ASZ1	.	nonsynonymous SNV	ASZ1:NM_001301822:exon5:c.T38C:p.I13T	.	.	.	.	.	.	.	.	.	.	.	2356358	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.954	P	0.424	B	0.000	D	1.000	D	2.095	M	-0.67	T	-0.468	T	0.306	T	0.705	2.707	15.01	4.68	1.043	6.389	10.859	0.493	0.0675848521639	.	.	5.791e-05	0	0.0005	0	0	0	0	6.089e-05	4.53e-05	7	154602	rs780891217	3.905e-05	3.967e-05	4.226e-05	3.58e-05	0.0005	3.051e-05	2.787e-05	0.0003	0.0002	0	0.0005	0	0	0	0	1.8e-05	0.0001	9.294e-05	0.0001	0.0001	0.0001	0.0001	0.0010	8.171e-05	6.727e-05	0.0007	0.0005	7.24e-05	0	0.0010	0	0	0	0	0	0	0	0.002	0.72154	D	0.036	0.52060	D	0.954	0.54400	P	0.424	0.45210	B	0.000126	0.49741	D	0.205081	0.999591	0.47742	D	2.215	0.62545	M	-0.67	0.72458	T	-3.18	0.64478	D	0.775	0.77226	-0.4682	0.69788	T	0.306	0.67712	T	10	0.49768946	0.61363	T	0.067585	0.70207	D	0.493	0.77910	0.379	0.39482	0.73115129609	0.72875	0.33401659238892	0.33314	0.0878256601607	0.09913	0.605622768402	0.53698	T	0.352723	0.72012	T	-0.0658821	0.41983	T	-0.0306902	0.68322	D	0.117653913950862	0.14198	T	0.850615	0.53448	D	0.34773692	0.56891	0.35679978	0.61185	0.34773692	0.56891	0.35679978	0.61185	-8.262	0.62842	D	.	.	0.193	0.41280	B	.	.	3.746835	0.53679	23.4	0.99501038396582031	0.68031	0.90518	0.51760	D	AEFDGBCIJ	0.577858	0.57929	D	0.44949747396105	0.64174	4.666178	0.469540096283827	0.65983	4.893033	0.999999462345436	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.83	4.68	0.58319	6.718000	0.74528	11.166000	0.87810	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.9251:0.0:0.0749:0.0	10.859	0.46024	462	0.78611	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1206.98	35	chr7	117384751	.	A	G	1206.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.339e+00;DP=768;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=-1.390e-01;SOR=0.608	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1308	20	0	1	0
chr7	117531068	117531068	T	C	exonic	CFTR	.	nonsynonymous SNV	CFTR:NM_000492:exon4:c.T443C:p.I148T,	Congenital bilateral absence of vas deferens, Autosomal recessive;Cystic fibrosis, Autosomal recessive;Sweat chloride elevation without CF (3)	YES	1	1481	40	0	0	40	0.0133245	.	.	47455	not_provided|CFTR-related_disorder|not_specified|Cystic_fibrosis	MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.29	B	0.375	B	0.000	D	1.000	D	0.835	L	-2.45	D	0.195	D	0.680	D	0.679	4.594	25.0	5.73	2.313	7.655	16.314	0.566	0.470015243051	0.0005	0.00139776	0.0019	0	0.0016	0	0	0.0014	0.0045	0.0068	0.0017917	277	154602	rs35516286	0.0015	0.0015	0.0013	0.0017	0.0069	0.0015	0.0015	0.0060	0.0059	0.0002	0.0014	0	0	0.0001	0.0069	0.0013	0.0016	0.0065	0.0010	0.0010	0.0009	0.0012	0.0050	0.0009	0.0008	0.0034	0.0029	0.0001	0	0.0006	0	0	0.0002	0.0034	0.0016	0.0024	0.0050	0.347	0.18246	T	0.002	0.79402	D	0.29	0.32311	B	0.375	0.43710	B	0.000003	0.62929	D	0.101923	1	0.81001	D	0.69	0.16971	N	-2.45	0.91533	D	-0.68	0.19509	N	0.824	0.81957	0.195	0.85830	D	0.680	0.88926	D	9	0.01625809	0.00342	T	0.470015	0.94664	D	0.566	0.82289	.	.	0.998848891978	0.99883	0.9133943498492195	0.91313	0.0037552309061	0.00325	0.52395015955	0.42183	T	0.484044	0.81152	T	-0.124879	0.32329	T	0.0514297	0.73678	D	0.0436109125824296	0.04350	T	0.953805	0.83186	D	0.4518071	0.64155	0.31101498	0.57109	0.41221425	0.61570	0.3604569	0.61487	-4.629	0.34404	T	0.25147133547124706	0.34029	0.122	0.50063	B	.;.;.;.;.	.;.;.;.;.	3.972076	0.58326	24.0	0.99784997268737652	0.87131	0.98240	0.80839	D	AEFDI	0.977344	0.99718	D	0.222097987727501	0.52271	3.40233	0.385256298779943	0.60654	4.25553	0.999999986768859	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.73	5.73	0.89730	7.608000	0.82114	7.931000	0.75020	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.314	0.82741	791	0.46100	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.;.;ABC transporter type 1, transmembrane domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	933.98	33	chr7	117531068	.	T	C	933.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=797;ExcessHet=0.0000;FS=0.748;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.90;ReadPosRankSum=1.92;SOR=0.607	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1388	20	0	1	0
chr7	117540273	117540273	T	A	exonic	CFTR	.	nonsynonymous SNV	CFTR:NM_000492:exon8:c.T1043A:p.M348K,	Congenital bilateral absence of vas deferens, Autosomal recessive;Cystic fibrosis, Autosomal recessive;Sweat chloride elevation without CF (3)	YES	0	1520	2	0	0	2	0.000657462	.	.	67841	Cystic_fibrosis|not_specified|CFTR-related_disorder|not_provided	MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.996	D	0.991	D	0.000	D	1.000	D	1.7	L	-2.59	D	0.694	D	0.772	D	0.985	4.705	26.1	5.39	2.156	7.584	15.694	0.927	0.736780914862	7.7e-05	.	0.0002	0	0.0002	0	0	0.0003	0	0	0.0001294	20	154602	rs142920240	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0002	0.0001	2.987e-05	0.0001	0	0	1.872e-05	0.0007	0.0001	0.0002	0	7.885e-05	8.537e-05	0.0001	5.38e-05	0.0001	4.497e-05	3.512e-05	6.805e-05	5.088e-05	0	0	0	0	0	0	0	0.0001	0.0014	0	0.0	0.91255	D	0.0	0.92824	D	0.996	0.68779	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.95	0.52479	M	-2.59	0.89822	D	-2.97	0.61865	D	0.94	0.94668	0.694	0.93099	D	0.772	0.92252	D	10	0.8749697	0.86782	D	0.736781	0.97887	D	0.927	0.98229	.	.	0.993634915165	0.99356	0.9814907381668324	0.98141	0.00369184875743	0.00316	0.761901021004	0.76212	T	0.818952	0.95552	D	0.243013	0.77945	D	0.396008	0.91980	D	0.254882908323187	0.23090	T	0.969703	0.89491	D	0.9475731	0.96018	0.84129494	0.90924	0.9371919	0.94962	0.8720538	0.93009	-14.652	0.94983	D	0.7992747305683549	0.87634	0.935	0.86846	P	.;.;.;.;.	.;.;.;.;.	4.493132	0.70201	25.5	0.98736765920267222	0.45437	0.98238	0.80821	D	AEFI	0.977938	0.99746	D	0.732290199300938	0.81750	7.595643	0.725768964040585	0.84334	8.263437	0.999973483006093	0.50053	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.39	5.39	0.77615	7.538000	0.80960	6.152000	0.54210	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	15.694	0.77239	790	0.46189	ABC transporter type 1, transmembrane domain;.;.;ABC transporter type 1, transmembrane domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	2202.98	36	chr7	117540273	.	T	A	2202.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.614;DP=876;ExcessHet=0.0000;FS=0.571;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=-1.080e-01;SOR=0.632	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1302	20	0	1	0
chr7	117780527	117780527	G	C	exonic	CTTNBP2	.	nonsynonymous SNV	CTTNBP2:NM_001363349:exon7:c.C2383G:p.P795A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	1.0	D	0.999	D	0.000	D	1.000	D	0.73	N	-0.92	T	-0.667	T	0.231	T	0.773	3.631	18.47	5.78	2.894	5.348	20.367	0.299	0.0389808889827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.37536	T	0.043	0.49942	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.051136	0.99997	0.53665	D	0.825	0.20901	L	-0.92	0.75108	T	-3.02	0.62630	D	0.764	0.76203	-0.6671	0.61959	T	0.231	0.59670	T	10	0.9464903	0.93975	D	0.038981	0.58541	D	0.542	0.80901	0.893	0.97460	0.817961933652	0.81624	0.4320024326256959	0.43117	0.4781751199	0.46905	0.570503413677	0.48749	T	0.157955	0.50078	T	0.174491	0.71535	D	0.0128672	0.71167	D	0.874757327650635	0.52462	D	0.89741	0.64114	D	0.23891087	0.46775	0.29871723	0.55905	0.23891087	0.46775	0.29871723	0.55904	-7.667	0.58778	D	.	.	0.174	0.38135	B	.	.	3.856081	0.55889	23.7	0.99535519250107363	0.70150	0.97309	0.73941	D	AEFBI	0.650404	0.62452	D	0.409883904537802	0.61965	4.405019	0.532931889025253	0.70220	5.473109	0.999999972546017	0.74766	0.706298	0.61202	0	0.468601	0.06657	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.78	5.78	0.91418	5.420000	0.66180	11.857000	0.98226	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.367	0.98884	842	0.36989	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	64.18	67	chr7	117780527	.	G	C	64.18	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.225e+00;DP=1484;ExcessHet=0.0000;FS=437.898;InbreedingCoeff=-0.0349;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.67;ReadPosRankSum=0.853;SOR=9.269	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1145	20	0	1	0
chr7	118224974	118224974	G	T	exonic	ANKRD7	.	nonsynonymous SNV	ANKRD7:NM_019644:exon1:c.G144T:p.K48N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.996	D	0.941	D	0.163	U	1.000	N	0.705	N	-0.19	T	-0.878	T	0.124	T	0.143	2.235	13.43	0.276	0.174	1.082	8.003	0.163	.	0.0099	0.0091853	0.0031	0.0372	0.0003	0	0	3.014e-05	0.0022	0	0.002846	440	154602	rs10487391	0.0009	0.0009	0.0011	0.0008	0.0339	0.0009	0.0009	0.0323	0.0316	0.0339	0.0009	0	0	0	0.0019	3.237e-05	0.0018	4.638e-05	0.0088	0.0089	0.0089	0.0087	0.0314	0.0085	0.0083	0.0300	0.0294	0.0314	0	0.0016	0	0	0	0	0.0001	0.0047	0	0.028	0.46129	D	0.301	0.42794	T	0.996	0.68779	D	0.941	0.67658	D	0.162631	0.17616	U	0.406633	1	0.08975	N	0.225	0.09600	N	-0.19	0.70480	T	-2.25	0.50337	N	0.203	0.22486	-0.8778	0.49935	T	0.124	0.42862	T	10	0.0057581663	0.00128	T	.	.	.	0.163	0.42028	0.444	0.50139	0.744860964332	0.74256	0.11228979996277964	0.11157	0.996463915584	0.74250	0.439471155405	0.30505	T	0.03873	0.24941	T	-0.49477	0.00612	T	-0.457717	0.26849	T	0.0395596951311502	0.03612	T	0.60444	0.23930	T	0.115668386	0.27292	0.10859317	0.26160	0.115668386	0.27292	0.10859317	0.26160	-6.137	0.47411	T	.	.	0.430	0.67165	A	.;.;.	.;.;.	2.702985	0.35308	19.86	0.99214334972468321	0.55685	0.42971	0.26995	N	AEFDBI	0.072552	0.14482	N	-0.407981490714165	0.25190	1.365541	-0.558232327810135	0.20588	1.109868	3.63274591623735E-4	0.06707	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.13	0.276	0.14916	1.380000	0.33958	3.187000	0.36685	-0.226000	0.07819	0.987000	0.36337	1.000000	0.68203	0.027000	0.12703	0.3837:0.0:0.6163:0.0	8.003	0.29471	878	0.29785	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1952.98	34	chr7	118224974	.	G	T	1952.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.594e+00;DP=856;ExcessHet=0.0000;FS=5.663;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=1.01;SOR=0.898	GT:AD:DP:GQ:PL	0/1:74,87:161:99:1967,0,1716	20	0	1	0
chr7	120989862	120989862	A	G	exonic	CPED1	.	nonsynonymous SNV	CPED1:NM_001105533:exon1:c.A241G:p.T81A	.	.	429	1077	16	0	0	16	0.00737327	.	.	2823134	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.15	T	0.043	B	0.036	B	0.475	N	0.984	N	0.895	L	0.89	T	-1.020	T	0.069	T	0.182	1.731	11.75	1.83	0.073	0.513	4.887	0.013	0.0171850538084	0.0012	0.00119808	0.0011	0.0004	0.0015	0	0	0.0017	0	0.0001	0.0010737	166	154602	rs117047013	0.0009	0.0009	0.0009	0.0009	0.0118	0.0009	0.0009	0.0095	0.0087	0.0004	0.0014	0.0085	0	3.745e-05	0.0118	0.0007	0.0020	0.0003	0.0009	0.0009	0.0009	0.0010	0.0009	0.0008	0.0007	0.0006	0.0005	0.0003	0.0330	0.0009	0.0078	0	0	0.0034	0.0007	0.0019	0	0.147	0.25873	T	0.38	0.18395	T	0.043	0.21573	B	0.016	0.22909	B	0.474934	0.12233	N	0.766312	0.999999	0.08975	N	0.695	0.17993	N	0.89	0.45636	T	-0.34	0.32791	N	0.075	0.27673	-1.0198	0.23780	T	0.069	0.28313	T	10	0.0035578012	0.00064	T	0.017185	0.38787	T	0.013	0.01715	.	.	0.0806252709748	0.07271	0.26325970906816837	0.26238	0.0539382263776	0.05956	0.296295523643	0.09851	T	0.005363	0.18566	T	-0.536458	0.00352	T	-0.588913	0.13760	T	0.0174877103418112	0.00484	T	0.624837	0.25234	T	0.03746055	0.04805	0.047467627	0.06844	0.03746055	0.04805	0.047467627	0.06843	-3.166	0.12250	T	.	.	0.084	0.21578	B	.;.;.;.	.;.;.;.	1.377913	0.17892	13.43	0.97894917248348667	0.36697	0.05079	0.10874	N	AEFDBHCI	0.118069	0.23102	N	-0.5970978038191	0.19033	0.9929426	-0.512596011231321	0.21811	1.181675	0.999999958976769	0.74766	0.549168	0.22868	0	0.563428	0.19063	0	0.573888	0.23631	0	0.616125	0.45549	0	.	.	5.63	1.83	0.24279	0.527000	0.22695	1.318000	0.25583	0.756000	0.94297	0.112000	0.23030	0.003000	0.18671	0.962000	0.52141	0.496:0.2783:0.2258:0.0	4.887	0.13065	527	0.73864	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1431.98	36	chr7	120989862	.	A	G	1431.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.20;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.46;ReadPosRankSum=7.000e-03;SOR=0.614	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1307	20	0	1	0
chr7	122303885	122303885	A	G	exonic	FEZF1	.	nonsynonymous SNV	FEZF1:NM_001024613:exon1:c.T553C:p.F185L,	Hypogonadotropic hypogonadism 22, with or without anosmia, Autosomal recessive	.	428	1085	8	1	0	10	0.00458716	.	.	735915	not_provided|FEZF1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.69	T	0.0	B	0.0	B	0.000	D	1.000	D	-0.345	N	3.58	T	-0.937	T	0.008	T	0.232	0.412	6.238	3.49	0.898	4.091	10.518	0.091	0.010498803367	7.7e-05	0.000798722	0.0006	0	9.411e-05	0	0	0.0001	0	0.0035	0.0004786	74	154602	rs370467502	0.0003	0.0003	0.0002	0.0004	0.0042	0.0003	0.0003	0.0038	0.0037	2.987e-05	8.946e-05	0	2.519e-05	0	0.0026	5.306e-05	0.0004	0.0042	0.0002	0.0002	7.709e-05	0.0002	0.0033	0.0001	9.231e-05	0.0021	0.0017	0	0	0	0	0	0	0	0.0001	0.0005	0.0033	0.693	0.04264	T	0.821	0.03817	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.84330	D	0.053341	0.972835	0.81001	D	0.075	0.08292	N	3.41	0.05574	T	0.17	0.05125	N	0.174	0.18649	-0.9372	0.43057	T	0.008	0.02842	T	10	0.007815272	0.00177	T	0.010499	0.27109	T	0.091	0.26358	0.403	0.43408	0.0986583533028	0.09354	0.3036808074717667	0.30281	.	.	0.80135089159	0.82168	T	0.056174	0.30213	T	-0.543239	0.00320	T	-0.554258	0.16918	T	0.0192541617395333	0.00631	T	0.707329	0.31793	T	0.21460988	0.43871	0.12800616	0.30804	0.20819955	0.43049	0.13686676	0.32730	-2.256	0.04321	T	.	.	0.882	0.81616	P	.	.	3.753288	0.53807	23.4	0.66403007826150473	0.08048	0.75610	0.37029	D	AEFDBHCI	0.193461	0.32058	N	-0.765986607241676	0.14203	0.7056025	-0.564290761106263	0.20426	1.100497	0.999999321641421	0.74766	0.72623	0.87236	0	0.563428	0.19063	0	0.594344	0.31042	0	0.63947	0.58350	0	.	.	4.65	3.49	0.39065	3.492000	0.53022	9.283000	0.79730	0.684000	0.82519	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9225:0.0:0.0775:0.0	10.518	0.44090	697	0.58201	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1353.98	38	chr7	122303885	.	A	G	1353.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.223e+00;DP=874;ExcessHet=0.0000;FS=5.584;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.39;ReadPosRankSum=-1.245e+00;SOR=0.810	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,111,1665	20	0	1	0
chr7	122702036	122702036	G	A	exonic	RNF148	.	nonsynonymous SNV	RNF148:NM_198085:exon1:c.C715T:p.L239F,	.	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.994	D	.	.	1.000	D	2.165	M	3.2	T	-1.192	T	0.059	T	0.698	2.790	15.29	4.29	2.510	3.205	9.580	0.152	0.0168151764601	.	0.00139776	0.0007	0	8.769e-05	0.0085	0	6.02e-05	0	0.0005	0.0006145	95	154602	rs187667058	0.0003	0.0003	0.0003	0.0003	0.0060	0.0003	0.0003	0.0053	0.0051	0	0.0003	0.0007	0.0060	0	0.0007	2.519e-05	0.0003	0.0012	0.0003	0.0003	0.0003	0.0003	0.0069	0.0003	0.0002	0.0052	0.0045	2.407e-05	0	0.0002	0.0017	0.0069	0	0	4.41e-05	0.0005	0	0.002	0.72154	D	0.006	0.70582	D	1.0	0.90584	D	0.994	0.82059	D	.	.	.	.	0.999978	0.53665	D	2.585	0.75554	M	3.2	0.07236	T	-3.81	0.71882	D	0.502	0.53445	-1.1921	0.00219	T	0.059	0.24834	T	9	0.009398162	0.00212	T	0.016815	0.38254	T	0.152	0.39956	.	.	0.425615883737	0.42182	0.0420692020371326	0.04151	0.0175200015799	0.01705	0.462543666363	0.33660	T	0.269186	0.64136	T	-0.338683	0.05480	T	-0.254425	0.49378	T	0.0807887189350038	0.10088	T	0.925307	0.72522	D	0.4037397	0.60990	0.431583	0.66771	0.4037397	0.60991	0.431583	0.66771	-9.312	0.69682	D	.	.	0.378	0.58298	A	.	.	4.511733	0.70660	25.6	0.99884188853525324	0.95970	0.80026	0.39776	D	AEFI	0.134903	0.25506	N	0.638480180115095	0.75626	6.339187	0.593274118341125	0.74456	6.140208	0.0011221123828029	0.08250	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.37	4.29	0.50359	1.442000	0.34656	7.503000	0.59513	0.676000	0.76740	0.948000	0.32982	1.000000	0.68203	0.969000	0.54022	0.207:0.0:0.793:0.0	9.580	0.38644	701	0.57775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2857.98	36	chr7	122702036	.	G	A	2857.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.980e-01;DP=936;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.11;ReadPosRankSum=2.19;SOR=0.703	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1291	20	0	1	0
chr7	122994805	122994805	A	G	exonic	TAS2R16	.	nonsynonymous SNV	TAS2R16:NM_016945:exon1:c.T830C:p.M277T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.203	B	0.085	B	0.020	N	1.000	N	1.32	L	5.68	T	-0.920	T	0.004	T	0.525	1.088	9.441	3.41	0.899	2.120	6.773	0.106	0.00902720696492	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1051096835	5.504e-06	5.472e-06	6.843e-06	4.151e-06	0.0002	2.37e-06	1.71e-06	9.846e-05	7.012e-05	0.0002	0	0	0	0	0	0	1.668e-05	0	3.287e-05	3.284e-05	2.57e-05	4.037e-05	9.653e-05	1.261e-05	7.98e-06	3.249e-05	1.915e-05	9.653e-05	0	0	0	0	0	0	1.47e-05	0	0	0.097	0.30943	T	0.091	0.40110	T	0.203	0.29776	B	0.085	0.29395	B	0.019915	0.27154	N	0.352028	1	0.08975	N	1.59	0.40313	L	5.68	0.00759	T	-2.67	0.57110	D	0.372	0.41360	-0.9204	0.45499	T	0.004	0.01192	T	10	0.40975532	0.56142	T	0.009027	0.23774	T	0.106	0.30130	0.691	0.82843	0.194818534648	0.19098	0.20152894011811637	0.20069	0.012742868649	0.01221	0.480903625488	0.36181	T	0.03346	0.22922	T	-0.155539	0.27447	T	-0.461198	0.26469	T	0.278822660446167	0.24122	T	0.627737	0.24333	T	0.20704293	0.42898	0.31234133	0.57236	0.20704293	0.42898	0.31234133	0.57235	-4.208	0.26867	T	.	.	0.239	0.47316	B	.	.	1.219420	0.16129	12.34	0.54688403409682862	0.05188	0.27179	0.23204	N	AEFBI	0.039200	0.05659	N	-0.580662215984167	0.19533	1.023005	-0.610595778239712	0.19220	1.030281	9.70611611851142E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.56	3.41	0.38145	2.619000	0.46066	3.576000	0.39140	0.691000	0.84096	0.156000	0.23741	0.129000	0.22981	0.412000	0.27050	0.8937:0.0:0.1063:0.0	6.773	0.22789	715	0.56137	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1111.98	33	chr7	122994805	.	A	G	1111.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.050e+00;DP=911;ExcessHet=0.0000;FS=0.784;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=-1.351e+00;SOR=0.582	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1177	20	0	1	0
chr7	123582083	123582083	T	C	splicing	NDUFA5	NM_001291304:exon3:c.86-2A>G	.	.	.	.	563	874	78	7	0	92	0.05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0135783	.	.	.	.	.	.	.	.	0.0111803	291	26028	rs184260455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0095	0.0095	0.0099	0.0092	0.0329	0.0091	0.0090	0.0287	0.0272	0.0021	0.0044	0.0125	0.0421	0.0006	0.0018	0.0306	0.0118	0.0133	0.0329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1534.68	31	chr7	123582083	.	T	C	1534.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.931e+00;DP=721;ExcessHet=0.3300;FS=3.855;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=0.367;SOR=0.392	GT:AD:DP:GQ:PL	0/0:34,0:34:90:0,90,1350	18	0	3	0
chr7	123628874	123628878	TATCT	-	exonic	ASB15	.	frameshift deletion	ASB15:NM_080928:exon8:c.880_884del:p.L295Pfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2765.94	34	chr7	123628873	.	ATATCT	A	2765.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.675;DP=848;ExcessHet=0.0000;FS=1.300;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.08;ReadPosRankSum=0.790;SOR=0.833	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1205	20	0	1	0
chr7	123662428	123662428	C	T	exonic	LMOD2	.	nonsynonymous SNV	LMOD2:NM_207163:exon2:c.C842T:p.T281M,	.	.	425	1094	3	0	0	3	0.00136924	.	.	2227225	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	.	.	1.000	D	2.965	M	-3.16	D	1.026	D	0.913	D	0.93	4.170	21.6	5.35	2.648	3.890	19.425	0.885	0.32187447373	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1475063418	2.326e-05	2.326e-05	2.45e-05	2.2e-05	8.961e-05	1.674e-05	1.477e-05	2.995e-05	2.038e-05	8.961e-05	0	0	2.519e-05	0	0	1.619e-05	9.938e-05	6.956e-05	1.315e-05	1.314e-05	1.285e-05	1.347e-05	6.548e-05	2.19e-06	8.2e-07	.	.	0	0	6.548e-05	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	0.999951	0.81001	D	3.335	0.90898	M	-3.16	0.92996	D	-5.15	0.83357	D	0.732	0.73285	1.026	0.97648	D	0.913	0.97116	D	9	0.8903273	0.88373	D	0.321874	0.91498	D	0.885	0.96651	0.69	0.82748	0.879669841883	0.87849	0.7111123131694083	0.71053	0.484536605155	0.47358	0.627710342407	0.56821	T	0.376643	0.74000	T	0.340315	0.85852	D	0.43259	0.93121	D	0.980912983417511	0.73618	D	0.977902	0.92154	D	0.5157815	0.68017	0.44821414	0.67873	0.5157815	0.68018	0.44821414	0.67874	-12.572	0.87525	D	.	.	0.846	0.79531	P	.	.	5.083598	0.84853	28.4	0.99915238029275344	0.98379	0.89843	0.50574	D	AEFGBCI	0.607500	0.59744	D	0.811066902239064	0.86794	9.001023	0.752377549207154	0.86332	8.85603	0.999999999681078	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.35	5.35	0.76297	3.998000	0.56736	4.912000	0.45962	0.549000	0.26987	0.999000	0.42656	1.000000	0.68203	0.945000	0.48827	0.0:1.0:0.0:0.0	19.425	0.94732	731	0.54177	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2713.98	45	chr7	123662428	.	C	T	2713.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.58;DP=904;ExcessHet=0.0000;FS=1.154;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.36;ReadPosRankSum=1.03;SOR=0.587	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1150	20	0	1	0
chr7	123662566	123662566	C	T	exonic	LMOD2	.	nonsynonymous SNV	LMOD2:NM_207163:exon2:c.C980T:p.T327M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.953	D	.	.	1.000	D	2.795	M	-3.09	D	0.916	D	0.869	D	0.694	3.474	17.78	5.36	2.666	4.784	14.982	0.715	0.188449975166	.	0.000199681	0.0001	0.0003	8.642e-05	0	0	6.003e-05	0.0011	0.0004	0.0001164	18	154602	rs535251089	7.868e-05	7.867e-05	5.173e-05	0.0001	0.0006	6.667e-05	6.202e-05	0.0004	0.0004	5.974e-05	6.708e-05	0	0	0	0	4.677e-05	0.0001	0.0006	9.196e-05	9.187e-05	0.0001	8.061e-05	0.0006	5.526e-05	4.363e-05	0.0002	9.007e-05	0.0001	0	0	0	0	0	0	8.82e-05	0	0.0006	0.006	0.61437	D	0.001	0.83351	D	1.0	0.90584	D	0.953	0.69275	D	.	.	.	.	0.999848	0.81001	D	2.89	0.83701	M	-3.09	0.92613	D	-5.17	0.83489	D	0.823	0.81857	0.916	0.95905	D	0.869	0.95654	D	9	0.8035284	0.79721	D	0.18845	0.86002	D	0.715	0.89877	.	.	0.846327470452	0.84485	0.6941686664733397	0.69357	0.477529913739	0.46866	0.664684176445	0.62079	T	0.273145	0.64558	T	0.0200971	0.54395	T	0.119052	0.78173	D	0.667023241519928	0.39205	D	0.915808	0.69967	D	0.21920401	0.44447	0.2873815	0.54750	0.21920401	0.44447	0.2873815	0.54749	-12.024	0.84968	D	.	.	0.302	0.53143	B	.	.	4.696217	0.75298	26.3	0.99909312441353337	0.97949	0.95779	0.66118	D	AEFGBCI	0.715599	0.66771	D	0.767369225164428	0.84030	8.175495	0.715941791009613	0.83591	8.061579	0.999999885380282	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.36	5.36	0.76624	4.899000	0.62932	7.637000	0.63009	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.874000	0.41677	0.0:0.8577:0.1423:0.0	14.982	0.70975	730	0.54327	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1395.98	45	chr7	123662566	.	C	T	1395.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.05;DP=867;ExcessHet=0.0000;FS=1.398;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.557;SOR=0.560	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1150	20	0	1	0
chr7	123662638	123662638	A	G	exonic	LMOD2	.	nonsynonymous SNV	LMOD2:NM_207163:exon2:c.A1052G:p.N351S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.992	D	.	.	1.000	D	2.305	M	-3.49	D	1.007	D	0.898	D	0.38	4.267	22.3	5.27	2.120	9.245	15.485	0.832	0.325888770871	.	.	3.318e-05	0	0.0002	0	0	3.002e-05	0	0	2.59e-05	4	154602	rs759645346	3.284e-05	3.283e-05	2.859e-05	3.713e-05	8.944e-05	2.543e-05	2.249e-05	2.985e-05	2.224e-05	5.974e-05	8.944e-05	3.826e-05	0	0	0	3.418e-05	3.313e-05	1.159e-05	2.628e-05	2.627e-05	2.569e-05	2.689e-05	0.0001	8.14e-06	5.14e-06	2.26e-05	9.07e-06	2.412e-05	0	0.0001	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.992	0.80445	D	.	.	.	.	0.999999	0.81001	D	2.98	0.85499	M	-3.49	0.94621	D	-4.84	0.81030	D	0.959	0.96871	1.007	0.97311	D	0.898	0.96615	D	9	0.96263427	0.95693	D	0.325889	0.91611	D	0.832	0.94691	0.829	0.93915	0.865506261627	0.86420	0.8088709864216774	0.80842	0.425612778913	0.42963	0.726429224014	0.70984	T	0.329172	0.69950	T	0.0632809	0.60025	T	0.078824	0.75499	D	0.760379985278219	0.43873	D	0.976202	0.91709	D	0.6451837	0.75107	0.5652977	0.74840	0.6451837	0.75108	0.5652977	0.74841	-12.016	0.84930	D	.	.	0.962	0.88272	P	.	.	4.506239	0.70528	25.5	0.9982310884071407	0.90590	0.97607	0.75865	D	AEBCI	0.904848	0.85564	D	0.674204556669657	0.77942	6.772973	0.595463568776548	0.74613	6.167137	0.999999999987276	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.27	5.27	0.73797	9.283000	0.95023	11.130000	0.86775	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	15.485	0.75292	730	0.54327	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1410.98	120	chr7	123662638	.	A	G	1410.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.700;DP=847;ExcessHet=0.0000;FS=2.393;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=0.069;SOR=0.467	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1150	20	0	1	0
chr7	123876907	123876907	T	G	exonic	HYAL4	.	nonsynonymous SNV	HYAL4:NM_012269:exon5:c.T1198G:p.L400V,	.	.	438	1081	3	0	0	3	0.00138568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	D	0.856	D	2.93	M	1.47	T	-0.571	T	0.148	T	0.829	3.107	16.38	-2.54	-0.261	-0.440	13.487	0.379	0.05632031354	0.0047	0.00139776	0.0047	0.0008	0.0004	0	0.0042	0.0077	0.0011	0.0008	0.0047865	740	154602	rs111907036	0.0054	0.0054	0.0055	0.0053	0.0065	0.0053	0.0053	0.0064	0.0064	0.0007	0.0005	0.0002	0	0.0048	0.0009	0.0065	0.0037	0.0011	0.0040	0.0040	0.0043	0.0037	0.0069	0.0037	0.0036	0.0064	0.0061	0.0011	0	0.0007	0	0	0.0070	0.0034	0.0069	0.0033	0.0008	0.006	0.61437	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000006	0.62929	D	0.000000	0.855527	0.35296	D	3.165	0.88605	M	1.47	0.31987	T	-2.86	0.60188	D	0.494	0.54409	-0.5705	0.65994	T	0.148	0.47380	T	10	0.016780049	0.00355	T	0.05632	0.66563	D	0.379	0.69696	.	.	0.240491677333	0.23641	0.678487424277557	0.67787	0.160552358693	0.18118	0.381639093161	0.22490	T	0.452661	0.79290	T	-0.254064	0.13604	T	-0.131183	0.60872	T	0.0583069543937478	0.06898	T	0.766023	0.39401	T	0.33513343	0.55889	0.31088927	0.57097	0.33513343	0.55890	0.31088927	0.57097	-6.826	0.52752	T	.	.	0.304	0.53386	B	.;.	.;.	1.834645	0.23309	15.97	0.99486700814425677	0.67180	0.55234	0.29813	D	AEFDI	0.282874	0.39611	N	-0.160335812617975	0.34796	1.990546	-0.382952397425744	0.25506	1.403025	2.38113951082185E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.86	-2.54	0.05941	-0.618000	0.05674	-0.791000	0.07414	-0.123000	0.13640	0.001000	0.13787	0.000000	0.08366	0.096000	0.18090	0.0:0.5442:0.0:0.4558	13.487	0.60824	843	0.36859	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2026.98	33	chr7	123876907	.	T	G	2026.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.820e-01;DP=873;ExcessHet=0.0000;FS=1.823;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.20;ReadPosRankSum=-2.320e-01;SOR=0.834	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1159	20	0	1	0
chr7	124032238	124032238	T	C	exonic	TMEM229A	.	nonsynonymous SNV	TMEM229A:NM_001136002:exon1:c.A766G:p.I256V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.394	B	0.12	B	.	.	0.905	N	0.255	N	1.18	T	-1.045	T	0.043	T	0.229	3.319	17.16	4.26	0.872	2.646	9.465	0.028	0.00309682352866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.781	0.03280	T	0.592	0.08161	T	0.394	0.34702	B	0.12	0.32230	B	.	.	.	.	0.905131	0.27622	N	0.81	0.20779	L	1.18	0.37746	T	0.3	0.04091	N	0.102	0.08506	-1.0447	0.15913	T	0.043	0.18451	T	9	0.08238995	0.13593	T	0.003097	0.06726	T	0.028	0.06331	0.306	0.27646	0.0884992946249	0.08302	0.5384612323208492	0.53771	.	.	0.549685418606	0.45813	T	0.019	0.15464	T	-0.165	0.25994	T	-0.474787	0.25003	T	0.396950924387161	0.28827	T	0.730627	0.34608	T	0.09667316	0.22774	0.14163347	0.33721	0.09667316	0.22774	0.14163347	0.33720	-1.938	0.02956	T	.	.	0.222	0.45323	B	.	.	2.108335	0.26829	17.25	0.91703689414627898	0.20998	0.47574	0.28013	N	AEFBCI	0.167188	0.29384	N	-0.287457512271222	0.29631	1.644968	-0.111154528697024	0.34940	2.015554	0.999416261887452	0.39577	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	5.43	4.26	0.49832	2.136000	0.41744	4.125000	0.41997	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.1789:0.8211	9.465	0.37973	832	0.38914	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05	66.04	136	chr7	124032238	.	T	C	66.04	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-3.801e+00;DP=1811;ExcessHet=0.1072;FS=124.830;InbreedingCoeff=-0.0698;MLEAC=2;MLEAF=0.050;MQ=60.00;MQRankSum=0.00;QD=0.25;ReadPosRankSum=1.53;SOR=8.838	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:110,0:110:0:.:.:0,0,1942	18	0	2	1
chr7	124032406	124032408	GCT	-	exonic	TMEM229A	.	nonframeshift deletion	TMEM229A:NM_001136002:exon1:c.596_598del:p.Q200del,	.	.	414	602	321	84	101	590	0.288836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	8600.32	36	chr7	124032402	.	CGCTGCT	C,CGCT	8600.32	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-6.570e-01;DP=1005;ExcessHet=0.9430;FS=4.707;InbreedingCoeff=0.0101;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=23.50;ReadPosRankSum=0.410;SOR=0.923	GT:AD:DP:GQ:PL	0/1:21,29,0:50:99:1147,0,789,1210,877,2087	13	1	6	0
chr7	124032552	124032552	G	A	exonic	TMEM229A	.	nonsynonymous SNV	TMEM229A:NM_001136002:exon1:c.C452T:p.A151V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.064	B	0.02	B	.	.	0.992	N	0.695	N	.	.	-1.018	T	0.060	T	0.22	1.279	10.18	1.17	0.612	3.000	3.147	0.180	0.0093775740499	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1247744300	7.158e-07	1.368e-06	1.412e-06	0	3.173e-05	0	0	.	.	3.173e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.064	0.44905	T	0.064	0.23455	B	0.02	0.19048	B	.	.	.	.	0.991783	0.23983	N	1.95	0.52479	M	.	.	.	-0.93	0.24898	N	0.213	0.23758	-1.0176	0.24495	T	0.060	0.25273	T	8	0.091376424	0.16001	T	0.009378	0.24600	T	0.180	0.45073	0.241	0.17371	0.0138822411134	0.00435	0.11991789268579872	0.11918	.	.	0.751051425934	0.74602	T	0.00378	0.03191	T	-0.154629	0.27589	T	-0.45989	0.26610	T	0.090027997140362	0.11222	T	0.558444	0.19458	T	0.06542047	0.13980	0.075885415	0.16751	0.06542047	0.13979	0.075885415	0.16750	-4.931	0.36082	T	.	.	0.118	0.24226	B	.	.	1.959978	0.24899	16.57	0.99391531224533614	0.62383	0.35694	0.25361	N	AEFDBHCIJ	0.212838	0.33848	N	-0.667395572268876	0.16955	0.8683963	-0.657860360441656	0.18019	0.9607195	0.998846382803767	0.37800	0.623204	0.39778	0	0.563428	0.19063	0	0.378051	0.06126	2	0.554799	0.18163	0	.	.	3.3	1.17	0.19998	1.192000	0.31759	5.457000	0.48661	0.526000	0.24426	0.046000	0.21249	0.984000	0.30665	0.050000	0.15192	0.1523:0.0:0.5615:0.2861	3.147	0.06085	833	0.38804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	660.98	36	chr7	124032552	.	G	A	660.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.96;ReadPosRankSum=1.61;SOR=0.847	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr7	124032666	124032666	C	T	exonic	TMEM229A	.	nonsynonymous SNV	TMEM229A:NM_001136002:exon1:c.G338A:p.R113H,	.	.	425	1086	11	0	0	11	0.00503894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.089	B	0.006	B	.	.	0.866	N	0.695	N	.	.	-1.020	T	0.056	T	0.177	2.553	14.50	0.305	0.053	1.391	1.598	0.028	.	0.0004	0.00239617	0.0036	0.0005	0.0051	0	0	0.0005	0	0.0080	0.0005757	89	154602	rs144450298	0.0010	0.0010	0.0008	0.0012	0.0083	0.0010	0.0010	0.0078	0.0076	0.0002	0.0006	0	0	0	0.0019	0.0006	0.0011	0.0083	0.0006	0.0006	0.0007	0.0006	0.0079	0.0005	0.0005	0.0059	0.0052	0.0001	0	0.0002	0	0	9.414e-05	0	0.0007	0.0005	0.0079	0.006	0.61437	D	0.024	0.56640	D	0.089	0.25085	B	0.006	0.12133	B	.	.	.	.	0.865945	0.28283	N	2.125	0.59049	M	.	.	.	-0.56	0.17003	N	0.188	0.20528	-1.0199	0.23747	T	0.056	0.23450	T	8	0.006305933	0.00142	T	.	.	.	0.028	0.06331	.	.	0.0297737177859	0.01360	0.12003498779184024	0.11930	.	.	0.474432051182	0.35291	T	0.002412	0.01807	T	-0.443479	0.01234	T	-0.405659	0.32727	T	0.0481981118726475	0.05180	T	0.631037	0.24617	T	0.118145704	0.27840	0.11601279	0.28006	0.118145704	0.27840	0.11601279	0.28006	-4.034	0.24311	T	.	.	0.094	0.14431	B	.	.	3.402265	0.47155	22.4	0.99706258510485657	0.81005	0.34876	0.25170	N	AEFDBHCIJ	0.251659	0.37149	N	-0.749543025611516	0.14646	0.7313188	-0.692017132504716	0.17160	0.911189	0.993943577265962	0.33421	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.66	0.305	0.15048	0.967000	0.28941	1.246000	0.25138	-0.326000	0.05813	0.898000	0.31380	1.000000	0.68203	0.916000	0.45140	0.2154:0.4446:0.2108:0.1292	1.598	0.02506	833	0.38804	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1161.98	36	chr7	124032666	.	C	T	1161.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.687;DP=875;ExcessHet=0.0000;FS=2.664;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=-5.800e-02;SOR=0.990	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr7	124851918	124851918	C	A	exonic	POT1	.	nonsynonymous SNV	POT1:NM_001042594:exon10:c.G510T:p.Q170H	.	.	440	1081	1	0	0	1	0.000462321	.	.	457104	not_specified|not_provided|POT1-related_disorder|Tumor_predisposition_syndrome_3|Hereditary_cancer-predisposing_syndrome	MedGen:CN169374|MedGen:C3661900|.|MONDO:MONDO:0014368,MedGen:C4014476,OMIM:615848,Orphanet:618|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.973	D	0.77	P	0.118	N	1.000	N	2.125	M	0.82	T	-0.883	T	0.143	T	0.398	3.367	17.35	-0.749	-0.371	-0.153	9.597	0.136	0.0144066373101	0.0029	0.00159744	0.0026	0.0011	0.0013	0.0001	0.0041	0.0036	0.0023	0.0015	0.0027296	422	154602	rs116916706	0.0050	0.0050	0.0051	0.0049	0.0059	0.0049	0.0049	0.0057	0.0057	0.0009	0.0012	7.665e-05	0	0.0037	0.0002	0.0059	0.0054	0.0021	0.0030	0.0030	0.0032	0.0028	0.0047	0.0028	0.0027	0.0043	0.0041	0.0014	0	0.0014	0	0.0004	0.0035	0	0.0047	0.0038	0.0014	0.143	0.25355	T	0.057	0.46406	T	0.973	0.57599	D	0.77	0.56828	P	0.117501	0.19151	N	0.560758	0.999997	0.08975	N	2.65	0.77586	M	0.82	0.48142	T	-1.39	0.43149	N	0.229	0.33250	-0.8829	0.49529	T	0.143	0.46532	T	10	0.0039791167	0.00077	T	0.014407	0.34508	T	0.136	0.36778	0.252	0.19067	0.595301672115	0.59208	0.5165991918110379	0.51582	0.237661895385	0.26305	0.326851516962	0.14459	T	0.21509	0.57686	T	-0.460536	0.00976	T	-0.431276	0.29791	T	0.0174436964394395	0.00481	T	0.606339	0.22814	T	0.03864433	0.05189	0.040631518	0.04436	0.041615646	0.06161	0.048539113	0.07229	-4.019	0.24087	T	0.1863759991736207	0.24255	0.126	0.26700	B	.;.	.;.	1.062284	0.14442	11.01	0.98493922337933948	0.42132	0.11385	0.16599	N	AEFBI	0.074043	0.14829	N	-0.578567553959384	0.19596	1.026869	-0.783961302408964	0.14888	0.7802644	6.56076162446506E-5	0.04366	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.44	-0.749	0.10525	-0.073000	0.11428	-1.233000	0.05954	-0.930000	0.02149	0.009000	0.18154	0.000000	0.08366	0.725000	0.34934	0.0:0.563:0.0:0.437	9.597	0.38745	749	0.51929	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	796.98	34	chr7	124851918	.	C	A	796.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.010;DP=737;ExcessHet=0.0000;FS=0.998;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.28;ReadPosRankSum=-6.270e-01;SOR=0.941	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,999	20	0	1	0
chr7	126533638	126533638	G	A	exonic	GRM8	.	nonsynonymous SNV	GRM8:NM_001371087:exon8:c.C1129T:p.P377S	.	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.433	B	0.164	B	0.000	D	1.000	D	2.79	M	-2.66	D	0.531	D	0.747	D	0.846	3.578	18.23	5.8	2.758	9.859	19.043	0.724	0.198329302775	.	.	3.297e-05	0	0	0	0	1.499e-05	0	0.0002	2.59e-05	4	154602	rs776841029	1.984e-05	1.984e-05	1.225e-05	2.75e-05	0.0003	1.392e-05	1.203e-05	6.094e-05	3.272e-05	0	0	0	0	0	0.0003	1.259e-05	8.279e-05	9.275e-05	1.972e-05	1.97e-05	0	4.038e-05	0.0002	5.24e-06	2.45e-06	.	.	2.414e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	0.074	0.42487	T	0.249	0.23776	T	0.249	0.35643	B	0.103	0.34953	B	0.000000	0.84330	D	0.000000	1	0.81001	D	3.005	0.85968	M	-2.66	0.90735	D	-4.52	0.78302	D	0.896	0.89577	0.531	0.90973	D	0.747	0.91384	D	10	0.66208047	0.70212	D	0.198329	0.86589	D	0.724	0.90280	.	.	0.760529830429	0.75834	0.8118058279733943	0.81136	0.35052041495	0.36897	0.674012064934	0.63409	T	0.540803	0.84274	D	0.207241	0.74570	D	0.296579	0.88042	D	0.325929425694405	0.26060	T	0.975102	0.92669	D	0.37614384	0.59036	0.4596635	0.68612	0.37614384	0.59036	0.4596635	0.68612	-6.664	0.51644	T	.	.	0.181	0.46085	B	.;.;.	.;.;.	4.195702	0.63268	24.6	0.9977381461792284	0.86174	0.98958	0.89172	D	AEFBI	0.924375	0.90230	D	0.552482986044221	0.70235	5.471629	0.656707817220819	0.79111	7.013837	0.999999977165945	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.8	5.8	0.92081	9.993000	0.99245	11.920000	0.99804	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.043	0.92990	831	0.39019	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2537.98	34	chr7	126533638	.	G	A	2537.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.626e+00;DP=869;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.79;ReadPosRankSum=-3.060e-01;SOR=0.727	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1217	20	0	1	0
chr7	126533844	126533844	G	A	exonic	GRM8	.	nonsynonymous SNV	GRM8:NM_001371087:exon8:c.C923T:p.A308V	.	.	.	.	.	.	.	.	.	.	.	735927	GRM8-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.32	T	0.012	B	0.004	B	0.000	D	1.000	D	0.21	N	-2.47	D	-0.433	T	0.390	T	0.349	1.894	12.29	5.8	2.758	3.272	19.043	0.247	0.024164168627	0.0015	0.00219649	0.0005	0.0058	0.0003	0	0	0	0	6.107e-05	0.0004981	77	154602	rs112220743	0.0002	0.0002	0.0002	0.0001	0.0055	0.0001	0.0001	0.0049	0.0046	0.0055	0.0002	0	0	0	0.0003	6.296e-06	0.0003	8.116e-05	0.0014	0.0014	0.0015	0.0013	0.0049	0.0012	0.0012	0.0043	0.0041	0.0049	0	0.0003	0	0	0	0	1.471e-05	0.0009	0.0002	0.265	0.16305	T	0.343	0.17857	T	0.001	0.16265	B	0.004	0.10090	B	0.000133	0.49741	D	0.213974	0.785998	0.34326	D	-0.86	0.01466	N	-2.47	0.88997	D	-1.14	0.29323	N	0.341	0.38232	-0.4329	0.70971	T	0.390	0.74466	T	10	0.013761938	0.00291	T	0.024164	0.47155	T	0.247	0.55478	.	.	0.585140355757	0.58187	0.13829255642812197	0.13753	0.198405690804	0.22219	0.444835007191	0.31238	T	0.168524	0.51555	T	-0.313999	0.07401	T	-0.221063	0.52635	T	0.0282294724159011	0.01722	T	0.754824	0.38541	T	0.3054834	0.53392	0.30173382	0.56206	0.3054834	0.53392	0.30173382	0.56205	-3.58	0.18161	T	.	.	0.076	0.06849	B	.;.;.	.;.;.	2.254972	0.28807	17.92	0.98161289739898705	0.38772	0.66168	0.32985	D	AEFBI	0.351342	0.44448	N	-0.379645174746298	0.26195	1.427793	-0.217442252574627	0.30910	1.744548	0.991455111351703	0.32494	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.8	5.8	0.92081	3.309000	0.51613	10.031000	0.83167	0.665000	0.62972	0.375000	0.25965	1.000000	0.68203	0.462000	0.28163	0.0:0.0:1.0:0.0	19.043	0.92990	831	0.39019	GPCR, family 3, nine cysteines domain;.;GPCR, family 3, nine cysteines domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1191.98	34	chr7	126533844	.	G	A	1191.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.900e-01;DP=793;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=-1.558e+00;SOR=0.646	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1217	20	0	1	0
chr7	127583260	127583260	T	C	exonic	GCC1	.	nonsynonymous SNV	GCC1:NM_024523:exon2:c.A1082G:p.Q361R,	.	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.828	P	0.374	B	0.011	N	0.769	D	1.59	L	2.32	T	-1.023	T	0.043	T	0.127	0.405	6.200	5.18	2.081	0.972	13.306	0.060	0.00503048229	.	.	0.0001	0	0	0	0	0	0	0.0011	0.0001164	18	154602	rs772015214	8.565e-05	8.619e-05	3.271e-05	0.0001	0.0014	7.324e-05	6.827e-05	0.0012	0.0012	0	0	0	0	0	0	9.005e-07	0	0.0014	6.575e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.202	0.20230	T	0.53	0.10103	T	0.828	0.46021	P	0.374	0.43683	B	0.010635	0.29847	N	0.361060	0.769018	0.34128	D	1.67	0.42885	L	2.32	0.16640	T	-0.99	0.26200	N	0.048	0.01999	-1.0231	0.22704	T	0.043	0.18451	T	10	0.037557542	0.02117	T	0.00503	0.12722	T	0.060	0.17295	0.105	0.01753	0.267299060538	0.26338	0.10176165132109803	0.10107	0.312168810141	0.33520	0.484170138836	0.36631	T	0.012781	0.11175	T	-0.558313	0.00260	T	-0.615287	0.11559	T	0.0923934566481575	0.11498	T	0.715028	0.32735	T	0.13332368	0.31015	0.11914806	0.28759	0.13332368	0.31015	0.11914806	0.28758	-4.896	0.35690	T	.	.	0.088	0.11845	B	.	.	2.738437	0.35860	20.1	0.95000992997844558	0.25962	0.59303	0.30878	D	AEFBCI	0.156074	0.28137	N	-0.0332363738308707	0.40354	2.395069	-0.030002995492752	0.38365	2.259374	0.999991373206148	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.18	5.18	0.71140	0.960000	0.28851	7.885000	0.72726	0.665000	0.62972	0.468000	0.26706	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	13.306	0.59792	0	0.99858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1632.98	35	chr7	127583260	.	T	C	1632.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.520e+00;DP=878;ExcessHet=0.0000;FS=2.252;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.76;ReadPosRankSum=-1.121e+00;SOR=0.892	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1125	20	0	1	0
chr7	127595503	127595503	G	A	exonic	FSCN3	.	nonsynonymous SNV	FSCN3:NM_020369:exon2:c.G341A:p.R114H,	.	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.037	B	0.008	B	0.010	N	1.000	D	0.49	N	1.81	T	-1.082	T	0.035	T	0.146	2.403	13.99	3.76	1.502	1.132	9.064	0.015	0.00865986651429	7.7e-05	0.00139776	0.0004	0	0.0002	0.0001	0	0.0001	0.0011	0.0025	0.0003881	60	154602	rs199821862	0.0002	0.0002	0.0001	0.0003	0.0024	0.0002	0.0002	0.0021	0.0020	2.987e-05	0.0002	0.0002	0.0003	0	0.0003	4.766e-05	0.0002	0.0024	0.0002	0.0002	0.0001	0.0003	0.0027	0.0001	0.0001	0.0016	0.0013	2.406e-05	0	0.0001	0	0.0010	0	0	0.0001	0	0.0027	0.059	0.37536	T	0.295	0.20680	T	0.037	0.20876	B	0.008	0.13708	B	0.009931	0.30138	N	0.293319	0.731532	0.81001	D	1.215	0.30540	L	1.81	0.25182	T	-1.73	0.41046	N	0.238	0.26837	-1.0819	0.06984	T	0.035	0.15160	T	10	0.016237557	0.00342	T	0.00866	0.22878	T	0.015	0.02232	.	.	0.327419511103	0.32360	0.41589163055189926	0.41505	0.0946874709311	0.10699	0.311866939068	0.12189	T	0.004224	0.03630	T	-0.549002	0.00296	T	-0.566307	0.15790	T	0.0139722294047778	0.00268	T	0.768323	0.39714	T	0.05841275	0.11747	0.06204677	0.12079	0.05841275	0.11747	0.06204677	0.12079	-5.046	0.37336	T	.	.	0.074	0.05103	B	.	.	2.381927	0.30579	18.48	0.99646453295633031	0.77005	0.14834	0.18609	N	AEFDBI	0.156599	0.28198	N	-0.494879139158073	0.22248	1.186611	-0.371503590392971	0.25850	1.424176	0.996920607418257	0.35121	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.58	3.76	0.42368	1.177000	0.31578	4.425000	0.43330	0.676000	0.76740	0.067000	0.21986	0.999000	0.35428	0.946000	0.48989	0.1759:0.0:0.8241:0.0	9.064	0.35612	0	0.99858	Fascin domain|Fascin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3289.98	37	chr7	127595503	.	G	A	3289.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.72;DP=905;ExcessHet=0.0000;FS=3.993;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.89;ReadPosRankSum=0.432;SOR=0.823	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1462	20	0	1	0
chr7	127596418	127596418	G	A	exonic	FSCN3	.	nonsynonymous SNV	FSCN3:NM_020369:exon3:c.G932A:p.R311H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.996	D	0.001	D	0.998	D	0.55	N	1.22	T	-0.751	T	0.214	T	0.818	4.008	20.5	5.55	2.768	3.305	15.367	0.264	0.026157597416	0.0002	0.000798722	0.0007	9.61e-05	0	0.0032	0.0050	0.0003	0.0011	0.0003	0.0006468	100	154602	rs144351439	0.0004	0.0004	0.0004	0.0005	0.0060	0.0004	0.0004	0.0053	0.0051	3.017e-05	2.238e-05	0.0002	0.0060	0.0036	0	0.0001	0.0006	0.0002	0.0006	0.0006	0.0004	0.0008	0.0052	0.0005	0.0005	0.0037	0.0032	7.225e-05	0	6.542e-05	0	0.0052	0.0043	0	0.0001	0.0005	0.0010	0.072	0.34982	T	0.0	0.92824	D	1.0	0.90584	D	0.981	0.75168	D	0.000509	0.43753	D	0.105600	0.997741	0.44152	D	2.595	0.75868	M	1.22	0.37052	T	-3.25	0.65283	D	0.617	0.63289	-0.7509	0.57888	T	0.214	0.57494	T	10	0.032537848	0.01408	T	0.026158	0.49088	D	0.264	0.57741	.	.	0.536474986538	0.53298	0.5496814856125878	0.54894	0.466169075788	0.46028	0.405578017235	0.25844	T	0.043547	0.26535	T	-0.228473	0.16851	T	-0.103384	0.63135	T	0.0852102204984558	0.10640	T	0.849215	0.53152	T	0.14881119	0.33955	0.14824715	0.35051	0.14881119	0.33955	0.14824715	0.35051	-5.74	0.44048	T	.	.	0.120	0.24666	B	.	.	4.824886	0.78622	26.9	0.99932087788298563	0.99439	0.80981	0.40484	D	AEFDBI	0.468666	0.51537	N	0.473514193737705	0.65549	4.836457	0.49614895443713	0.67735	5.123885	0.999999150049964	0.74766	0.549168	0.22868	0	0.547309	0.14657	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	5.55	5.55	0.83298	3.327000	0.51757	6.586000	0.56011	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.912000	0.44740	0.0:0.0:1.0:0.0	15.367	0.74244	0	0.99858	Fascin domain|Fascin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1090.98	36	chr7	127596418	.	G	A	1090.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.300e-01;DP=828;ExcessHet=0.0000;FS=0.704;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.74;ReadPosRankSum=-7.410e-01;SOR=0.789	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1312	20	0	1	0
chr7	127599531	127599531	C	T	exonic	FSCN3	.	nonsynonymous SNV	FSCN3:NM_020369:exon5:c.C1271T:p.P424L,	.	.	438	1074	9	1	0	11	0.00509495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.436	B	0.024	B	0.008	N	0.655	D	0	N	0.95	T	-1.016	T	0.034	T	0.207	1.488	10.92	4.49	0.958	1.697	9.970	0.076	0.01155948857	0.0046	0.000998403	0.0041	0.0012	0.0014	0	0.0021	0.0067	0	0.0010	0.0041203	637	154602	rs34941808	0.0061	0.0061	0.0062	0.0059	0.0073	0.0060	0.0059	0.0071	0.0071	0.0011	0.0022	0.0033	2.519e-05	0.0023	0.0009	0.0073	0.0059	0.0011	0.0040	0.0040	0.0044	0.0035	0.0069	0.0037	0.0036	0.0064	0.0062	0.0013	0	0.0024	0.0026	0.0004	0.0019	0	0.0069	0.0024	0.0012	0.003	0.68238	D	0.022	0.57587	D	0.016	0.17332	B	0.004	0.10090	B	0.008466	0.30825	N	0.228496	0.655053	0.32999	D	0	0.06538	N	0.95	0.43279	T	-1.51	0.36787	N	0.351	0.39254	-1.0161	0.24980	T	0.034	0.14726	T	10	0.011538744	0.00252	T	0.011559	0.29307	T	0.076	0.22200	.	.	0.413891365518	0.41003	0.3340084537075522	0.33313	0.0777758828851	0.08748	0.410015881062	0.26459	T	0.003073	0.02473	T	-0.54165	0.00328	T	-0.544846	0.17823	T	0.0316915787858512	0.02257	T	0.59684	0.22194	T	0.056650057	0.11174	0.07990745	0.18029	0.056650057	0.11174	0.07990745	0.18029	-5.384	0.40765	T	.	.	0.099	0.16582	B	.	.	2.224496	0.28394	17.78	0.85321436873864454	0.15820	0.49207	0.28381	N	AEFDBI	0.090920	0.18420	N	-0.492978251281183	0.22311	1.190404	-0.314682311968875	0.27625	1.534177	0.969358848466505	0.29122	0.553676	0.25195	0	0.588015	0.36545	0	0.573078	0.19857	0	0.562822	0.20929	0	.	.	5.64	4.49	0.54177	1.695000	0.37381	6.141000	0.54053	-0.102000	0.15922	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	0.8291:0.1709:0.0:0.0	9.970	0.40921	0	0.99858	Fascin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1608.98	36	chr7	127599531	.	C	T	1608.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.32;DP=822;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.24;ReadPosRankSum=-4.260e-01;SOR=0.680	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr7	127701190	127701190	T	G	exonic	SND1	.	nonsynonymous SNV	SND1:NM_014390:exon5:c.T456G:p.C152W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.733	P	0.276	B	0.000	D	1.000	D	0.805	L	1.59	T	-1.123	T	0.025	T	0.607	3.175	16.63	2.63	0.579	0.810	7.838	0.192	0.0116118102047	0.0005	0.00199681	0.0002	0.0020	0.0003	0	0	0	0	0.0002	0.0002393	37	154602	rs144408630	8.004e-05	8.003e-05	9.121e-05	6.876e-05	0.0023	6.801e-05	6.355e-05	0.0019	0.0017	0.0023	0.0002	0	0	0	0	0	0.0003	0.0001	0.0004	0.0004	0.0005	0.0004	0.0015	0.0004	0.0003	0.0012	0.0011	0.0015	0	0.0002	0	0	0	0	0	0.0005	0	0.001	0.78490	D	0.003	0.76473	D	0.733	0.42736	P	0.276	0.40142	B	0.000009	0.62929	D	0.180987	0.999998	0.58761	D	0.695	0.17993	N	1.59	0.28836	T	-2.38	0.52451	N	0.522	0.55193	-1.1234	0.02127	T	0.025	0.10509	T	10	0.0111745	0.00245	T	0.011612	0.29407	T	0.192	0.47115	.	.	0.174091166621	0.17034	0.8547043217059073	0.85433	1.61877923899	0.89039	0.672002911568	0.63123	T	0.075851	0.35277	T	-0.378469	0.03185	T	-0.335436	0.40860	T	0.080281358272747	0.10023	T	0.944706	0.79020	D	0.75331795	0.81061	0.52584404	0.72605	0.75331795	0.81063	0.52584404	0.72606	-11.005	0.79686	D	.	.	0.231	0.46343	B	.	.	3.106154	0.41883	21.4	0.98911489528848628	0.48381	0.79004	0.39069	D	AEFBI	0.579503	0.58029	D	-0.01278059098565	0.41278	2.466079	0.0701120725334017	0.43056	2.615203	0.805340639544485	0.24260	0.719381	0.83141	0	0.724815	0.89359	0	0.702456	0.68683	0	0.733575	0.97253	0	.	.	6.16	2.63	0.30420	0.833000	0.27157	0.303000	0.17000	0.665000	0.62972	1.000000	0.71638	0.997000	0.33255	0.999000	0.91618	0.0:0.2439:0.0:0.7561	7.838	0.28546	441	0.80015	Staphylococcal nuclease (SNase-like), OB-fold|Staphylococcal nuclease (SNase-like), OB-fold|Staphylococcal nuclease (SNase-like), OB-fold	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1508.98	34	chr7	127701190	.	T	G	1508.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=822;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=-6.940e-01;SOR=0.760	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr7	127704867	127704867	A	G	exonic	SND1	.	nonsynonymous SNV	SND1:NM_014390:exon8:c.A869G:p.K290R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.01	B	0.06	B	0.000	D	1.000	D	-0.075	N	1.58	T	-1.043	T	0.041	T	0.524	1.939	12.44	5.92	2.277	5.941	14.330	0.136	0.00483071388679	.	.	1.656e-05	0	0	0	0	3.007e-05	0	0	1.29e-05	2	154602	rs765696382	2.736e-06	2.736e-06	1.361e-06	4.126e-06	3.597e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.98	0.02008	T	0.991	0.02359	T	0.01	0.15535	B	0.06	0.26717	B	0.000000	0.84330	D	0.087296	0.999999	0.58761	D	0.03	0.08032	N	1.58	0.29085	T	0.44	0.03243	N	0.321	0.36148	-1.0428	0.16473	T	0.041	0.17742	T	10	0.15071723	0.28502	T	0.004831	0.12098	T	0.136	0.36778	0.562	0.68229	0.588851629814	0.58560	0.5108367575240044	0.51005	0.546123088021	0.51614	0.824771165848	0.85760	D	0.038429	0.24835	T	-0.177535	0.24103	T	-0.385136	0.35121	T	0.409752309322357	0.29308	T	0.909409	0.67928	D	0.12738422	0.29811	0.12372313	0.29830	0.12738422	0.29811	0.12372313	0.29829	-4.937	0.36148	T	.	.	0.072	0.04119	B	.	.	3.364259	0.46465	22.3	0.9586884647698185	0.28041	0.98238	0.80821	D	AEFBI	0.850462	0.76730	D	-0.151375534389064	0.35176	2.017181	0.111798782865672	0.45151	2.783428	0.999999999859894	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	6.006000	0.70384	8.076000	0.76461	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.330	0.66109	450	0.79359	Staphylococcal nuclease (SNase-like), OB-fold|Staphylococcal nuclease (SNase-like), OB-fold|Staphylococcal nuclease (SNase-like), OB-fold	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1338.98	34	chr7	127704867	.	A	G	1338.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.316;DP=772;ExcessHet=0.0000;FS=0.779;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.24;ReadPosRankSum=0.669;SOR=0.690	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1465	20	0	1	0
chr7	128030363	128030363	T	C	exonic	LRRC4	.	nonsynonymous SNV	LRRC4:NM_022143:exon2:c.A278G:p.D93G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.054	B	0.157	B	0.000	D	1.000	D	-0.21	N	0.49	T	-0.340	T	0.468	T	0.783	2.321	13.72	4.66	1.923	7.864	12.097	0.531	0.0937506173799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.39575	T	0.065	0.44702	T	0.054	0.22658	B	0.157	0.34536	B	0.000031	0.55875	D	0.069550	1	0.81001	D	-0.015	0.05111	N	-2.81	0.91134	D	-4.09	0.74821	D	0.196	0.21580	-0.3401	0.73841	T	0.468	0.79481	T	10	0.6778163	0.71097	D	0.093751	0.76129	D	0.531	0.80247	0.543	0.65589	0.898307074394	0.89729	0.6866054766357462	0.68600	0.820909731651	0.67165	0.783683419228	0.79484	T	0.299864	0.67238	T	0.248528	0.78462	D	0.119217	0.78184	D	0.959188044071198	0.65467	D	0.89911	0.64631	D	0.68281215	0.77121	0.44825804	0.67877	0.68281215	0.77122	0.44825804	0.67877	-6.092	0.47043	T	.	.	0.403	0.59727	A	.;.;.	.;.;.	3.796614	0.54681	23.5	0.98372901186755968	0.40770	0.94016	0.59860	D	AEFDBCI	0.932249	0.92231	D	-0.129603562832021	0.36106	2.082697	0.0840762546134725	0.43747	2.670175	0.99999999998227	0.74766	0.789315	0.99827	0	0.519925	0.08708	0	0.768056	0.98339	0	0.56751	0.32155	0	.	.	4.66	4.66	0.57857	6.234000	0.72276	7.947000	0.75742	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	12.097	0.53057	704	0.57414	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1852.98	34	chr7	128030363	.	T	C	1852.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=881;ExcessHet=0.0000;FS=0.705;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.25;ReadPosRankSum=0.109;SOR=0.597	GT:AD:DP:GQ:PL	0/1:48,66:114:99:1867,0,1265	20	0	1	0
chr7	128313243	128313243	G	A	exonic	RBM28	.	nonsynonymous SNV	RBM28:NM_001166135:exon14:c.C1654T:p.H552Y	.	.	0	1514	8	0	0	8	0.00263505	.	.	699808	RBM28-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.476	P	0.124	B	0.002	N	0.768	N	0	N	3.0	T	-1.056	T	0.016	T	0.102	1.453	10.80	4.88	1.412	3.165	14.527	0.074	0.00792322447304	0.0026	0.00139776	0.0022	0.0007	0.0031	0	0.0011	0.0028	0.0011	0.0021	0.0022703	351	154602	rs142674151	0.0031	0.0031	0.0032	0.0030	0.0036	0.0030	0.0030	0.0035	0.0035	0.0004	0.0019	0.0002	0	0.0007	0.0033	0.0036	0.0030	0.0019	0.0020	0.0020	0.0023	0.0018	0.0036	0.0019	0.0018	0.0032	0.0031	0.0006	0	0.0015	0	0	0.0002	0	0.0036	0.0019	0.0021	0.122	0.27663	T	1.0	0.01155	T	0.476	0.36665	P	0.038	0.23361	B	0.002199	0.37053	N	0.299750	0.84605	0.29468	N	0	0.06538	N	3.0	0.20255	T	-1.27	0.31981	N	0.299	0.33796	-1.0557	0.12855	T	0.016	0.06616	T	10	0.0071209073	0.00162	T	0.007923	0.21007	T	0.074	0.21613	.	.	0.241078983079	0.23725	0.07740264684239957	0.07676	0.184162317437	0.20708	0.322032153606	0.13730	T	0.004226	0.03630	T	-0.591127	0.00165	T	-0.62176	0.11047	T	0.0115796514822642	0.00176	T	0.79482	0.43725	T	0.059065334	0.11959	0.0893747	0.20897	0.07477026	0.16800	0.09586344	0.22752	-5.018	0.39963	T	.	.	0.073	0.04517	B	.;.	.;.	2.288981	0.29275	18.07	0.97949553309838999	0.37093	0.93654	0.58812	D	AEFBI	0.331964	0.43152	N	-0.432166213687329	0.24349	1.314099	-0.264486356226474	0.29277	1.638973	0.991326043116512	0.32449	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.78	4.88	0.63131	2.545000	0.45429	5.816000	0.50045	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.610000	0.31640	0.0:0.1475:0.8524:0.0	14.527	0.67483	645	0.63593	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1628.98	34	chr7	128313243	.	G	A	1628.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.49;DP=851;ExcessHet=0.0000;FS=5.370;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=0.454;SOR=1.146	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1268	20	0	1	0
chr7	128317663	128317663	C	T	exonic	RBM28	.	nonsynonymous SNV	RBM28:NM_001166135:exon12:c.G1361A:p.S454N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.005	B	0.006	B	0.000	D	0.979	D	0.4	N	2.98	T	-1.066	T	0.030	T	0.134	1.418	10.68	4.69	2.661	1.438	9.154	0.019	0.00727605550371	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206656307	0	2.737e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.57e-06	6.566e-06	1.285e-05	0	6.544e-05	0	0	.	.	0	0	6.544e-05	0	0	0	0	0	0	0	0.192	0.26085	T	0.53	0.11586	T	0.005	0.12996	B	0.006	0.12133	B	0.000046	0.53742	D	0.192179	0.979454	0.39563	D	0.61	0.15665	N	2.98	0.20808	T	-0.92	0.24676	N	0.135	0.24135	-1.0656	0.10409	T	0.030	0.12848	T	10	0.08119616	0.13264	T	0.007276	0.19307	T	0.019	0.03383	0.202	0.11659	0.156986980423	0.15292	0.1961015550995752	0.19527	0.136099042833	0.15346	0.441623598337	0.30799	T	0.007331	0.06742	T	-0.243791	0.14869	T	-0.587965	0.13843	T	0.529505610466003	0.33716	D	0.639136	0.25234	T	0.061925422	0.12878	0.09176123	0.21590	0.061925422	0.12878	0.09176123	0.21589	-7.674	0.58827	D	.	.	0.208	0.43503	B	.;.	.;.	2.446714	0.31499	18.76	0.91994633394727621	0.21328	0.72102	0.35304	D	AEFBI	0.082549	0.16716	N	-0.178512385284511	0.34029	1.937566	0.0391680661459885	0.41552	2.498231	0.992265363985007	0.32778	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.67	4.69	0.58546	2.081000	0.41220	1.742000	0.28408	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:0.8684:0.0:0.1316	9.154	0.36142	645	0.63593	RNA recognition motif domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	36.02	36	chr7	128317663	.	C	T	36.02	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-1.230e+00;DP=781;ExcessHet=0.0000;FS=22.166;InbreedingCoeff=-0.0909;MLEAC=1;MLEAF=0.031;MQ=60.00;MQRankSum=0.00;QD=0.92;ReadPosRankSum=-1.303e+00;SOR=4.803	GT:AD:DP:GQ:PL	0/0:44,0:44:60:0,60,748	15	0	1	5
chr7	128338270	128338270	A	T	exonic	RBM28	.	nonsynonymous SNV	RBM28:NM_018077:exon5:c.T521A:p.M174K,	.	.	.	.	.	.	.	.	.	.	.	2363599	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.271	B	0.21	B	0.000	D	1.000	D	1.735	L	-0.98	T	-0.615	T	0.296	T	0.623	3.160	16.57	2.63	0.805	2.491	6.957	0.478	0.0677169968	0.0002	0.000199681	4.123e-05	0.0005	0	0	0	0	0	0	3.88e-05	6	154602	rs143238762	1.3e-05	1.3e-05	1.634e-05	9.626e-06	0.0004	8.31e-06	6.7e-06	0.0002	0.0002	0.0004	4.472e-05	0	0	0	0	2.698e-06	3.312e-05	0	0.0001	0.0001	0.0001	0.0001	0.0003	7.569e-05	6.275e-05	0.0002	0.0001	0.0003	0	0.0002	0	0	0	0	0	0.0009	0	0.008	0.58626	D	0.062	0.45318	T	0.271	0.31796	B	0.21	0.37304	B	0.000035	0.55875	D	0.214383	0.674185	0.81001	D	1.8	0.47472	L	-0.98	0.75789	T	-2.3	0.51157	N	0.816	0.81162	-0.6147	0.64209	T	0.296	0.66792	T	10	0.47753888	0.60234	T	0.067717	0.70245	D	0.478	0.76946	.	.	0.933878938986	0.93319	0.8484211082085749	0.84803	0.400063458434	0.41012	0.581681251526	0.50322	T	0.006589	0.06018	T	-0.135109	0.30672	T	-0.125874	0.61317	T	0.132730555446772	0.15632	T	0.788221	0.42759	T	0.35046822	0.57104	0.36516562	0.61870	0.35046822	0.57104	0.36516562	0.61870	-8.524	0.64588	D	.	.	0.468	0.63090	A	.	.	3.533256	0.49582	22.8	0.96532200131780643	0.30154	0.90924	0.52520	D	AEFBI	0.239548	0.36149	N	-0.0207203981886033	0.40920	2.43837	0.0689062853750711	0.42994	2.610545	0.995533614716689	0.34180	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.74	2.63	0.30420	2.654000	0.46363	3.929000	0.40522	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.6404:0.0:0.3596:0.0	6.957	0.23758	647	0.63344	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1673.98	35	chr7	128338270	.	A	T	1673.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.51;DP=847;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.46;ReadPosRankSum=0.211;SOR=0.650	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1203	20	0	1	0
chr7	128400517	128400517	G	A	exonic	IMPDH1	.	nonsynonymous SNV	IMPDH1:NM_001142575:exon4:c.C272T:p.T91M	Leber congenital amaurosis 11;Retinitis pigmentosa 10, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1027708	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.305	B	0.105	B	0.000	D	1.000	D	1.555	L	-3.66	D	0.495	D	0.752	D	0.949	2.720	15.06	5.15	2.409	9.858	16.142	0.659	0.141696983127	.	0.000199681	1.85e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs530528335	9.586e-06	9.577e-06	1.226e-05	6.882e-06	8.126e-05	5.56e-06	4.35e-06	3.77e-05	2.665e-05	2.989e-05	0	0	0	0	0	5.396e-06	0	8.126e-05	4.594e-05	4.592e-05	2.569e-05	6.71e-05	0.0002	2.107e-05	1.525e-05	6.266e-05	4.288e-05	0.0001	0	0	0	0	0	0	0	0	0.0002	0.321	0.19927	T	0.248	0.27855	T	0.028	0.27095	B	0.027	0.21085	B	0.000001	0.84330	D	0.095573	1	0.81001	D	.	.	.	-3.66	0.95212	D	-1.35	0.37178	N	0.839	0.87265	0.495	0.90474	D	0.752	0.91536	D	10	0.49839535	0.61402	T	0.141697	0.82411	D	0.659	0.87234	.	.	0.78100004795	0.77897	0.7433154365887518	0.74277	0.738825806396	0.63122	0.839280128479	0.87985	D	0.215948	0.63901	T	0.353082	0.86714	D	0.453418	0.93666	D	0.254949433101476	0.23093	T	0.881912	0.60517	D	.	.	.	.	.	.	.	.	-9.518	0.72851	D	.	.	0.099	0.47283	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.737730	0.76369	26.5	0.97739357165425023	0.35671	0.97673	0.76317	D	AEFBCI	0.969631	0.99200	D	0.238174457627736	0.53058	3.476386	0.397822843302873	0.61430	4.343057	0.99999999994793	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.15	5.15	0.70287	9.992000	0.99232	8.686000	0.78060	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	16.142	0.81346	486	0.77016	.;.;.;.;IMP dehydrogenase/GMP reductase|CBS domain|CBS domain|IMP dehydrogenase/GMP reductase;.;IMP dehydrogenase/GMP reductase|CBS domain|CBS domain|IMP dehydrogenase/GMP reductase;.;IMP dehydrogenase/GMP reductase|CBS domain|CBS domain;CBS domain|CBS domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1190.98	38	chr7	128400517	.	G	A	1190.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.434;DP=806;ExcessHet=0.0000;FS=2.688;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=-3.130e-01;SOR=1.021	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr7	128479325	128479325	T	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.T370C:p.C124R,	.	.	438	1023	61	0	0	61	0.0289511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.0	B	0.070	N	1.000	N	-0.895	N	2.82	T	-0.911	T	0.159	T	0.493	-1.114	0.131	-3.33	-0.521	-0.728	3.406	0.150	0.0174515873499	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs2896399	6.91e-07	0.0003	0	1.392e-06	1.171e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.171e-05	7.762e-05	0.0047	6.85e-05	8.73e-05	0.0002	4.257e-05	3.336e-05	3.499e-05	2.115e-05	0.0001	0	0	0.0003	0	0.0001	0	6.298e-05	0	0.0002	0.543	0.07211	T	0.446	0.14075	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	0.999999	0.08975	N	0	0.06538	N	-1.5	0.81318	D	-0.09	0.08340	N	0.091	0.06990	-0.9107	0.46768	T	0.159	0.49245	T	10	0.040916353	0.02701	T	0.017452	0.39153	T	0.150	0.39571	.	.	0.281780670237	0.27795	0.3364087587855413	0.33553	1.77259410334	0.91302	0.311764478683	0.12173	T	0.009243	0.08422	T	-0.023595	0.48339	T	-0.271669	0.47650	T	0.0109154101652592	0.00156	T	0.0324967	0.00210	T	0.16811484	0.37249	0.10462155	0.25132	0.16811484	0.37249	0.10462155	0.25131	-3.247	0.14219	T	.	.	0.058	0.01645	B	.;.	.;.	-0.248706	0.02851	0.401	0.19786044545260884	0.00683	0.00784	0.03216	N	AEFDGBI	0.026016	0.01879	N	-1.68615344627752	0.00892	0.03860894	-1.71130139537614	0.01088	0.04887346	0.983306935734051	0.30538	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.65	-3.33	0.04649	-0.038000	0.12096	-0.198000	0.10972	-1.804000	0.00620	0.000000	0.06391	0.000000	0.08366	0.326000	0.25110	0.1971:0.2519:0.0:0.5509	3.406	0.06915	340	0.86005	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3	3229.78	206	chr7	128479325	.	T	C	3229.78	.	AC=9;AF=0.300;AN=30;BaseQRankSum=2.39;DP=4419;ExcessHet=4.7172;FS=44.472;InbreedingCoeff=-0.4018;MLEAC=11;MLEAF=0.367;MQ=57.67;MQRankSum=-1.368e+01;QD=1.57;ReadPosRankSum=-3.614e+00;SOR=5.400	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:239,0:239:0:.:.:0,0,5959	6	0	9	6
chr7	128479326	128479326	G	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.G371C:p.C124S,	.	.	439	1022	61	0	0	61	0.0289786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.0	B	0.0	B	0.070	N	1.000	N	-0.345	N	2.87	T	-0.882	T	0.184	T	0.33	-1.681	0.012	-0.54	0.001	-0.407	1.070	0.035	0.0178834836329	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs1053120	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0001	0.0047	0.0001	0.0001	0.0002	8.172e-05	6.772e-05	5.008e-05	3.232e-05	0.0001	0	7.124e-05	0.0003	0	0.0004	0	9.519e-05	0	0.0002	0.758	0.03719	T	0.539	0.11004	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	1	0.08975	N	-1.245	0.00777	N	-1.44	0.80815	T	0.31	0.04022	N	0.028	0.00618	-0.8819	0.49609	T	0.184	0.53346	T	10	0.027546227	0.00899	T	0.017883	0.39748	T	0.035	0.08770	0.413	0.45052	0.143124449307	0.13826	0.18685623340228857	0.18603	1.30509170409	0.83107	0.288228809834	0.08665	T	0.005735	0.05178	T	-0.0687896	0.41519	T	-0.336588	0.40731	T	0.0201303625068684	0.00714	T	0.0364963	0.00253	T	0.06934343	0.15184	0.05611007	0.09968	0.06934343	0.15184	0.05611007	0.09967	-1.643	0.02320	T	.	.	0.063	0.01622	B	.;.	.;.	-0.660452	0.01415	0.083	0.18282609098011249	0.00568	0.00146	0.00887	N	AEFDGBI	0.017860	0.00498	N	-1.54153135271646	0.01584	0.06923818	-1.55325254833429	0.01954	0.08918713	0.918060544389619	0.26560	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.57	-0.54	0.11268	-0.000000	0.12910	-3.007000	0.03146	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.356000	0.25796	0.2318:0.3902:0.2301:0.1479	1.070	0.01518	340	0.86005	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3	3281.73	207	chr7	128479326	.	G	C	3281.73	.	AC=9;AF=0.300;AN=30;BaseQRankSum=1.60;DP=4446;ExcessHet=4.7172;FS=44.472;InbreedingCoeff=-0.4190;MLEAC=11;MLEAF=0.367;MQ=57.73;MQRankSum=-1.377e+01;QD=1.60;ReadPosRankSum=-3.844e+00;SOR=5.419	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:239,0:239:0:.:.:0,0,5959	6	0	9	6
chr7	128801491	128801491	G	C	exonic	CCDC136	.	nonsynonymous SNV	CCDC136:NM_001367766:exon4:c.G652C:p.D218H	.	.	430	1075	17	0	0	17	0.00784495	.	.	722297	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.017	N	1.000	D	2.045	M	1.25	T	-0.659	T	0.154	T	0.428	4.878	28.0	5.24	2.469	3.284	14.327	0.145	.	0.0061	0.0175719	0.0086	0.0187	0.0010	0.0180	0	0.0006	0.0083	0.0434	0.0065911	1019	154602	rs3816887	0.0042	0.0042	0.0035	0.0049	0.0450	0.0041	0.0041	0.0432	0.0425	0.0184	0.0011	0	0.0450	0	0.0047	0.0006	0.0058	0.0316	0.0073	0.0073	0.0070	0.0075	0.0307	0.0069	0.0068	0.0267	0.0252	0.0176	0	0.0023	0	0.0256	0	0.0034	0.0006	0.0076	0.0307	0.001	0.78490	D	0.006	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.016592	0.27938	N	0.378359	0.991609	0.81001	D	2.25	0.63811	M	0.65	0.52642	T	-3.74	0.71042	D	0.313	0.41360	-0.6589	0.62324	T	0.154	0.48498	T	10	0.0025648475	0.00039	T	.	.	.	0.207	0.49555	.	.	0.696379046619	0.69376	0.3067353743971076	0.30586	0.496329302789	0.48146	0.486578851938	0.36964	T	0.208313	0.56821	T	-0.389463	0.02712	T	-0.273861	0.47429	T	0.0338218511450709	0.02608	T	0.859714	0.55187	D	0.23389378	0.46201	0.2656385	0.52399	0.23389378	0.46201	0.2656385	0.52398	-5.717	0.43845	T	.	.	0.187	0.63400	B	.;.;.	.;.;.	4.352545	0.66859	25.0	0.99605062895104857	0.74456	0.94620	0.61762	D	AEFBI	0.179148	0.30643	N	0.299725175590207	0.56136	3.777826	0.331342929804048	0.57388	3.904544	0.999485182318206	0.39952	0.719381	0.83141	0	0.588066	0.40923	0	0.723133	0.82415	0	0.567892	0.33627	0	.	.	5.24	5.24	0.72863	2.469000	0.44768	8.480000	0.77297	0.656000	0.54149	0.757000	0.29209	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	14.327	0.66086	682	0.59757	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1119.98	33	chr7	128801491	.	G	C	1119.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.54;DP=774;ExcessHet=0.0000;FS=7.464;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.73;ReadPosRankSum=0.519;SOR=1.559	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1227	20	0	1	0
chr7	128814812	128814812	G	A	exonic	CCDC136	.	nonsynonymous SNV	CCDC136:NM_022742:exon15:c.G2938A:p.G980R	.	.	422	1082	17	1	0	19	0.00870362	.	.	722299	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.23	T	0.998	D	0.965	D	0.080	N	1.000	N	1.955	M	1.21	T	-1.083	T	0.060	T	0.221	4.233	22.0	2.7	0.900	1.819	6.432	0.062	.	0.0061	0.0175719	0.0090	0.0197	0.0011	0.0193	0	0.0006	0.0083	0.0392	0.0066623	1030	154602	rs61730174	0.0042	0.0042	0.0035	0.0049	0.0452	0.0041	0.0041	0.0435	0.0428	0.0184	0.0011	0	0.0452	0	0.0047	0.0006	0.0058	0.0317	0.0072	0.0073	0.0070	0.0075	0.0309	0.0069	0.0067	0.0268	0.0253	0.0174	0	0.0022	0	0.0262	0	0.0034	0.0006	0.0076	0.0309	0.0	0.91255	D	0.142	0.33330	T	0.964	0.55854	D	0.815	0.58847	P	0.080158	0.20942	N	0.452827	1	0.08975	N	1.985	0.53793	M	1.21	0.37230	T	-2.13	0.48354	N	0.233	0.26233	-1.0832	0.06739	T	0.060	0.24945	T	10	0.0051091015	0.00111	T	.	.	.	0.062	0.17934	0.211	0.12923	0.404870348458	0.40103	0.08580872038638879	0.08514	0.444185373145	0.44332	0.496919095516	0.38398	T	0.038966	0.25026	T	-0.50508	0.00535	T	-0.439937	0.28815	T	0.0251534494830934	0.01293	T	0.773423	0.40508	T	0.26113153	0.49171	0.2761146	0.53554	0.26113153	0.49171	0.2761146	0.53553	-3.166	0.12070	T	.	.	0.358	0.57091	A	.	.	3.390886	0.46947	22.4	0.99875371713305283	0.95244	0.12477	0.17293	N	AEFBIJ	0.068515	0.13520	N	0.00958660321674754	0.42290	2.545313	-0.143344922568454	0.33665	1.928128	0.882952491301515	0.25663	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.616125	0.45549	0	.	.	5.64	2.7	0.31007	2.197000	0.42329	3.990000	0.40980	0.662000	0.56354	0.135000	0.23427	1.000000	0.68203	0.852000	0.40310	0.0844:0.0:0.5945:0.3211	6.432	0.21007	679	0.60090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1149.98	34	chr7	128814812	.	G	A	1149.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.440e-01;DP=787;ExcessHet=0.0000;FS=0.869;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.74;ReadPosRankSum=1.32;SOR=0.562	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1133	20	0	1	0
chr7	128815780	128815780	A	T	exonic	CCDC136	.	nonsynonymous SNV	CCDC136:NM_022742:exon16:c.A3212T:p.E1071V	.	.	399	1117	6	0	0	6	0.00267857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.989	D	0.79	P	0.059	N	1.000	N	1.935	M	1.23	T	-1.006	T	0.102	T	0.213	2.698	14.98	3.61	1.925	-0.026	7.544	0.063	.	0.0057	0.000798722	0.0112	0.0014	0.0079	0	0.0106	0.0177	0	0.0032	0.0051164	791	154602	rs189812175	0.0072	0.0072	0.0073	0.0071	0.0084	0.0071	0.0071	0.0082	0.0082	0.0009	0.0019	0.0077	0	0.0053	0.0066	0.0084	0.0066	0.0024	0.0050	0.0050	0.0055	0.0045	0.0086	0.0047	0.0046	0.0081	0.0078	0.0013	0	0.0024	0.0081	0	0.0038	0.0034	0.0086	0.0047	0.0015	0.003	0.68238	D	0.011	0.64786	D	0.95	0.53885	P	0.648	0.52381	P	0.058715	0.22381	N	0.373916	1	0.18612	N	1.385	0.34509	L	1.23	0.36872	T	-1.19	0.30346	N	0.251	0.28381	-1.0064	0.28034	T	0.102	0.37644	T	10	0.004013747	0.00078	T	.	.	.	0.063	0.18251	.	.	0.350088858571	0.34617	0.2660081045842865	0.26513	0.106303491595	0.12020	0.269780755043	0.06113	T	0.030687	0.21692	T	-0.535231	0.00358	T	-0.535625	0.18728	T	0.0106071016090234	0.00148	T	0.464953	0.13579	T	0.10979737	0.25958	0.053690325	0.09093	0.10979737	0.25957	0.053690325	0.09093	-4.872	0.35419	T	.	.	0.104	0.19032	B	.	.	1.686454	0.21489	15.22	0.98835225411423056	0.47018	0.22014	0.21602	N	AEFDBHCI	0.055115	0.10079	N	-0.341360720557316	0.27591	1.51501	-0.462041797336302	0.23208	1.264442	0.999785897404323	0.43007	0.634777	0.41761	0	0.610034	0.51514	0	0.643519	0.47002	0	0.616125	0.45549	0	.	.	4.79	3.61	0.40494	0.226000	0.17557	0.860000	0.22220	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.8968:0.0:0.1032:0.0	7.544	0.26921	679	0.60090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2068.98	42	chr7	128815780	.	A	T	2068.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.749e+00;DP=1508;ExcessHet=0.0000;FS=2.137;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.37;ReadPosRankSum=1.76;SOR=0.927	GT:AD:DP:GQ:PL	0/0:114,0:114:99:0,120,1800	20	0	1	0
chr7	128842905	128842905	C	T	exonic	FLNC	.	nonsynonymous SNV	FLNC:NM_001127487:exon16:c.C2501T:p.T834M	Cardiomyopathy, familial hypertrophic;Cardiomyopathy, familial restrictive 5, Autosomal dominant;Myopathy, distal, 4, Autosomal dominant;Myopathy, myofibrillar, 5, Autosomal dominant	YES	0	1496	24	2	0	28	0.00927152	.	.	134529	Cardiomyopathy|Hypertrophic_cardiomyopathy_26|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_myopathy_5|Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement|Cardiovascular_phenotype|not_specified|not_provided	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047,Orphanet:75249|MedGen:CN239310|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524,Orphanet:171445|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065,Orphanet:63273|MedGen:CN230736|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.15	T	0.367	B	0.177	B	0.000	D	1.000	D	1.375	L	-3.09	D	0.082	D	0.493	T	0.32	3.159	16.57	5.7	2.688	3.219	19.847	0.447	.	0.0012	0.0239617	0.0090	0.0005	0.0012	0.0179	0	0.0012	0.0056	0.0498	0.0084281	1303	154602	rs75133741	0.0050	0.0050	0.0038	0.0063	0.0493	0.0049	0.0049	0.0480	0.0475	0.0005	0.0007	0	0.0189	3.757e-05	0.0016	0.0017	0.0062	0.0493	0.0034	0.0034	0.0022	0.0046	0.0561	0.0031	0.0030	0.0506	0.0485	0.0003	0	0.0015	0	0.0203	0	0	0.0015	0.0014	0.0561	0.135	0.27663	T	0.125	0.35455	T	0.249	0.34030	B	0.044	0.35687	B	0.000001	0.84330	D	0.053555	0.999646	0.48019	D	2.21	0.62235	M	-3.09	0.93170	D	-3.02	0.64593	D	0.438	0.49420	0.082	0.83849	D	0.493	0.80757	T	10	0.010443568	0.00232	T	.	.	.	0.447	0.74866	.	.	0.474368926326	0.47065	0.3821749051926247	0.38132	0.432603500595	0.43432	0.613334536552	0.54787	T	0.745869	0.92998	D	-0.265909	0.12217	T	-0.11823	0.61948	T	0.0407364212241147	0.03823	T	0.918008	0.70480	D	0.08972675	0.20975	0.12818894	0.30844	0.09558347	0.22497	0.13841659	0.33057	-3.932	0.22783	T	0.2128994219855428	0.28577	0.065	0.02609	B	.;.	.;.	3.668437	0.52151	23.2	0.99082601232310663	0.52002	0.90739	0.52170	D	AEFDBHCI	0.358683	0.44928	N	0.130846518323266	0.47906	3.009856	0.276113382339496	0.54148	3.580719	0.999999999999857	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.691665	0.62940	0	0.714379	0.83352	0	.	.	5.7	5.7	0.88690	2.671000	0.46507	5.995000	0.52393	0.599000	0.40250	0.982000	0.35529	1.000000	0.68203	0.464000	0.28207	0.0:1.0:0.0:0.0	19.847	0.96710	608	0.67185	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2111.98	35	chr7	128842905	.	C	T	2111.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.270e-01;DP=911;ExcessHet=0.0000;FS=13.625;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.89;ReadPosRankSum=0.403;SOR=0.922	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1253	20	0	1	0
chr7	128850063	128850063	C	A	exonic	FLNC	.	nonsynonymous SNV	FLNC:NM_001458:exon31:c.C5287A:p.P1763T,	Cardiomyopathy, familial hypertrophic;Cardiomyopathy, familial restrictive 5, Autosomal dominant;Myopathy, distal, 4, Autosomal dominant;Myopathy, myofibrillar, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1806144	Cardiovascular_phenotype|Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement|Dilated_Cardiomyopathy,_Dominant|Hypertrophic_cardiomyopathy_26|Myofibrillar_myopathy_5	MedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065,Orphanet:63273|MedGen:CN239310|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047,Orphanet:75249|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524,Orphanet:171445	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.39	T	0.01	B	0.028	B	0.027	N	1.000	D	0	N	-1.91	D	-0.578	T	0.343	T	0.456	0.802	8.218	5.09	2.361	2.582	15.403	0.247	0.093354626898	.	.	5.88e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs749076427	1.225e-05	1.437e-05	8.543e-06	1.604e-05	0.0002	7.46e-06	6.1e-06	0.0001	8.462e-05	0	0	0	0	0	0	9.261e-07	3.444e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.555	0.06482	T	0.544	0.09621	T	0.01	0.15535	B	0.028	0.21332	B	0.026609	0.25890	N	0.387006	0.996786	0.81001	D	0	0.06538	N	-1.91	0.84701	D	-1.09	0.28290	N	0.323	0.36359	-0.5781	0.65692	T	0.343	0.70827	T	10	0.12545553	0.23841	T	0.093355	0.76058	D	0.247	0.55478	0.125	0.03095	0.575652722498	0.57233	0.3925966588220428	0.39174	0.308647816877	0.33177	0.644808411598	0.59248	T	0.23569	0.60301	T	-0.142571	0.29483	T	-0.205901	0.54087	T	0.0723000890433265	0.08971	T	0.746025	0.36642	T	0.06878267	0.15012	0.06515891	0.13168	0.06878267	0.15012	0.06515891	0.13167	-4.741	0.33896	T	.	.	0.085	0.10014	B	.	.	3.401989	0.47155	22.4	0.85339962569404049	0.15832	0.95311	0.64228	D	AEFBI	0.307122	0.41408	N	-0.247519225361881	0.31201	1.747267	-0.0273728646916988	0.38484	2.267926	0.999607765381834	0.40866	0.706548	0.73137	0	0.588015	0.36545	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	5.09	5.09	0.68647	1.182000	0.31639	3.197000	0.36732	0.599000	0.40250	0.596000	0.27714	1.000000	0.68203	0.799000	0.37691	0.0:1.0:0.0:0.0	15.403	0.74580	587	0.69154	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1256.98	35	chr7	128850063	.	C	A	1256.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.061e+00;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.45;ReadPosRankSum=1.11;SOR=0.732	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1074	20	0	1	0
chr7	128854868	128854868	G	A	exonic	FLNC	.	nonsynonymous SNV	FLNC:NM_001127487:exon41:c.G6992A:p.R2331H	Cardiomyopathy, familial hypertrophic;Cardiomyopathy, familial restrictive 5, Autosomal dominant;Myopathy, distal, 4, Autosomal dominant;Myopathy, myofibrillar, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	194622	not_provided|not_specified|FLNC-related_disorder|Cardiovascular_phenotype|Cardiomyopathy|Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement|Dilated_Cardiomyopathy,_Dominant|Hypertrophic_cardiomyopathy_26|Myofibrillar_myopathy_5	MedGen:C3661900|MedGen:CN169374|.|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065,Orphanet:63273|MedGen:CN239310|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047,Orphanet:75249|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524,Orphanet:171445	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.998	D	0.000	D	0.999	D	0.455	N	-1.93	D	0.219	D	0.574	D	0.329	1.931	12.41	5.29	2.451	3.211	12.74	0.399	0.0661231270777	0.0020	0.000599042	0.0019	0.0012	0.0007	0	0.0021	0.0030	0.0011	6.056e-05	0.0019469	301	154602	rs201672146	0.0029	0.0029	0.0029	0.0028	0.0035	0.0028	0.0027	0.0034	0.0033	0.0005	0.0007	7.652e-05	0.0001	0.0016	0	0.0035	0.0027	2.319e-05	0.0016	0.0016	0.0018	0.0015	0.0027	0.0015	0.0014	0.0024	0.0022	0.0009	0	0.0004	0	0	0.0023	0	0.0027	0.0014	0	0.482	0.08609	T	0.365	0.16717	T	0.175	0.90584	B	0.027	0.88582	B	0.000000	0.84330	D	0.000000	0.999389	0.46865	D	0.965	0.23975	L	-1.93	0.84842	D	-2.65	0.58896	D	0.324	0.36464	0.219	0.86223	D	0.574	0.84635	D	10	0.018609494	0.00406	T	0.066123	0.69782	D	0.399	0.71321	.	.	0.78420162893	0.78221	0.5915553317548239	0.59085	1.93917376431	0.93224	0.637266516685	0.58175	T	0.622273	0.88178	D	-0.306039	0.08102	T	-0.210461	0.53652	T	0.0232450858137391	0.01052	T	0.928207	0.73493	D	0.20834325	0.43068	0.116629295	0.28154	0.21599825	0.44047	0.114859946	0.27725	-10.218	0.75206	D	.	.	0.464	0.62888	A	.;.	.;.	4.882914	0.80103	27.2	0.94809879704423938	0.25568	0.93016	0.57114	D	AEFBCI	0.492830	0.52930	N	0.226816330803915	0.52501	3.423966	0.339759257434131	0.57893	3.956952	0.999999997642883	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	5.29	5.29	0.74430	3.318000	0.51686	7.596000	0.61403	0.672000	0.70159	0.997000	0.40164	1.000000	0.68203	0.988000	0.63387	0.0859:0.0:0.9141:0.0	12.74	0.56620	619	0.66147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	3832.98	33	chr7	128854868	.	G	A	3832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.020e-01;DP=1020;ExcessHet=0.0000;FS=0.887;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=0.567;SOR=0.625	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1203	20	0	1	0
chr7	128865170	128865170	G	A	exonic	ATP6V1F	.	nonsynonymous SNV	ATP6V1F:NM_001198909:exon2:c.G209A:p.R70H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	.	.	.	.	.	.	1.000	N	0	N	0.9	T	-1.033	T	0.029	T	0.077	0.705	7.757	-6.49	-1.440	-1.086	3.781	0.009	.	.	0.00259585	0.0007	0	0.0149	0	0	0.0003	0	0.0007	0.0005239	81	154602	rs139719863	0.0009	0.0009	0.0010	0.0008	0.0152	0.0009	0.0008	0.0142	0.0138	6.33e-05	0.0152	0	0.0058	0	0	0.0004	0.0008	0.0007	0.0012	0.0012	0.0010	0.0013	0.0078	0.0010	0.0010	0.0067	0.0063	9.626e-05	0	0.0078	0	0.0042	0	0	0.0003	0.0005	0.0021	0.254	0.16903	T	0.226	0.25438	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.9	0.45248	T	0.02	0.06739	N	0.041	0.01421	-1.0328	0.19554	T	0.029	0.12541	T	7	0.0034773946	0.00062	T	.	.	.	0.009	0.00846	.	.	0.311889312631	0.30795	0.5175617733489886	0.51679	0.328214677008	0.34941	0.276774674654	0.07046	T	.	.	.	-0.685422	0.00045	T	-0.743712	0.03736	T	0.00435369686266686	0.00046	T	0.378362	0.09086	T	.	.	.	.	.	.	.	.	-3.829	0.21238	T	.	.	0.084	0.09675	B	.	.	-0.522123	0.01798	0.140	0.57781596749257502	0.05845	0.00124	0.00775	N	AEFBI	0.014420	0.00229	N	-1.27142654698244	0.04024	0.1808481	-1.46875404717839	0.02604	0.12007	0.999999976465914	0.74766	0.614807	0.35715	0	0.552637	0.17590	0	0.616094	0.41390	0	0.491896	0.07777	0	.	.	3.24	-6.49	0.01720	-1.096000	0.03463	-0.387000	0.09501	-0.122000	0.13826	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2231:0.0:0.3224:0.4545	3.781	0.08200	617	0.66297	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	964.98	33	chr7	128865170	.	G	A	964.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=815;ExcessHet=0.0000;FS=2.441;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.54;ReadPosRankSum=2.33;SOR=0.657	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr7	128881062	128881062	G	A	exonic	KCP	.	nonsynonymous SNV	KCP:NM_001366122:exon32:c.C3448T:p.R1150W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs560295052	5.272e-05	2.385e-05	6.578e-05	4.002e-05	7.583e-05	3.038e-05	2.463e-05	4.336e-05	3.386e-05	0	0	0	0	0	0	7.583e-05	6.103e-05	0	1.313e-05	1.312e-05	0	2.685e-05	6.539e-05	2.18e-06	8.2e-07	.	.	0	0	6.539e-05	0	0	0	0.0034	0	0	0	.	.	.	0.054	0.47097	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.38438	.	.	.	.	.	.	.	0.16997132	0.31634	T	.	.	.	.	.	.	.	0.266385636622	0.26244	0.437468128662114	0.43663	.	.	.	.	.	0.119057	0.44032	T	-0.0297408	0.47455	T	-0.280497	0.46752	T	.	.	.	0.666633	0.27564	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.15475	B	.	.	3.344486	0.46102	22.2	0.82505467356518214	0.14227	0.25415	0.22691	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.892468918897225	0.25884	0.162113	0.03585	0	0.18701	0.04157	0	0.072005	0.02045	0	0.062806	0.01542	0	0.179535	0.29428	5.08	2.17	0.26736	0.226000	0.17557	0.211000	0.15962	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.730000	0.35099	0.0821:0.0:0.6099:0.3079	7.301	0.25591	565	0.70868	VWFC domain|VWFC domain|VWFC domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	789.98	34	chr7	128881062	.	G	A	789.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=6.000e-03;DP=825;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.29;ReadPosRankSum=-1.516e+00;SOR=0.610	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr7	128891726	128891726	G	A	exonic	KCP	.	nonsynonymous SNV	KCP:NM_001366122:exon17:c.C1715T:p.A572V	.	.	394	1112	15	1	0	17	0.0075859	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0113818	0.0044	0	0	0	0	0.0005	0	0.0764	0.0010996	170	154602	rs372463038	0.0023	0.0022	0.0014	0.0031	0.0399	0.0022	0.0022	0.0386	0.0381	0.0004	0.0006	0.0004	5.856e-05	4.599e-05	0.0006	0.0002	0.0032	0.0399	0.0014	0.0015	0.0007	0.0022	0.0386	0.0013	0.0012	0.0341	0.0323	0.0003	0	0.0003	0.0009	0.0004	9.418e-05	0	0.0002	0	0.0386	.	.	.	0.96	0.02548	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0020279884	0.00029	T	.	.	.	.	.	.	.	0.188950314367	0.18478	0.07746613131127543	0.07682	.	.	0.386530011892	0.23179	T	0.001831	0.13584	T	-0.412221	0.01921	T	-0.330595	0.41403	T	.	.	.	0.609039	0.26417	T	0.028721679	0.02252	0.12166932	0.29356	0.028721679	0.02252	0.12166932	0.29355	-5.772	0.44330	T	.	.	0.110	0.21277	B	.;.;.	.;.;.	1.089865	0.14734	11.28	0.85936422183728112	0.16207	0.03648	0.08900	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.990920462793359	0.32314	0.206829	0.04106	0	0.096583	0.02683	0	0.209056	0.04548	0	0.109499	0.03221	0	0.0549606	0.12632	4.96	1.09	0.19517	0.538000	0.22869	4.418000	0.43305	-0.712000	0.03928	0.001000	0.13787	1.000000	0.68203	0.318000	0.24924	0.4436:0.0:0.5564:0.0	7.155	0.24808	545	0.72614	VWFC domain|VWFC domain|VWFC domain;VWFC domain|VWFC domain|VWFC domain;VWFC domain|VWFC domain|VWFC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1239.98	33	chr7	128891726	.	G	A	1239.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.460e+00;DP=825;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.59;ReadPosRankSum=1.34;SOR=0.654	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1620	20	0	1	0
chr7	128893261	128893261	G	A	exonic	KCP	.	nonsynonymous SNV	KCP:NM_001366122:exon13:c.C1244T:p.A415V	.	.	425	1077	19	1	0	21	0.00965517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0157748	0.0218	0.0005	0.0101	0.0017	0	0.0011	0.0213	0.0503	0.0035834	554	154602	rs199677638	0.0040	0.0039	0.0027	0.0053	0.0518	0.0039	0.0039	0.0505	0.0500	0.0003	0.0008	0	0.0001	2.036e-05	0.0018	0.0011	0.0046	0.0518	0.0023	0.0023	0.0016	0.0031	0.0509	0.0021	0.0020	0.0456	0.0436	0.0003	0	0.0016	0	0	0	0	0.0010	0.0014	0.0509	.	.	.	0.329	0.18789	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.09349	.	.	.	.	.	.	.	0.0024197698	0.00036	T	.	.	.	.	.	.	.	.	.	0.10850653874881283	0.10779	.	.	0.308590769768	0.11694	T	0.002273	0.04800	T	-0.423063	0.01636	T	-0.343233	0.39978	T	.	.	.	0.548745	0.20183	T	0.027362043	0.01916	0.1073498	0.25841	0.027362043	0.01916	0.1073498	0.25841	-6.026	0.46497	T	.	.	0.086	0.11366	B	.;.;.	.;.;.	0.432349	0.08027	4.746	0.58662788602678073	0.06044	0.05280	0.11122	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999970831139	0.74766	0.158359	0.03455	1	0.096583	0.02683	0	0.175771	0.04330	1	0.058706	0.01089	0	0.106538	0.23126	4.21	-2.36	0.06282	-0.314000	0.08132	-0.235000	0.10642	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.1189:0.2438:0.4254:0.2118	2.219	0.03725	542	0.72843	VWFC domain|VWFC domain;VWFC domain|VWFC domain;VWFC domain|VWFC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1373.98	36	chr7	128893261	.	G	A	1373.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.452;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.02;ReadPosRankSum=-4.230e-01;SOR=0.758	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr7	128957286	128957286	G	A	exonic	TNPO3	.	nonsynonymous SNV	TNPO3:NM_001191028:exon21:c.C2549T:p.A850V	Muscular dystrophy, limb-girdle, type 1F, Autosomal dominant	.	434	1084	4	0	0	4	0.00184162	.	.	266683	not_provided|Autosomal_dominant_limb-girdle_muscular_dystrophy_type_1F|TNPO3-related_disorder	MedGen:C3661900|MONDO:MONDO:0012034,MedGen:C1842062,OMIM:608423,Orphanet:55595|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.75	T	0.999	D	0.942	D	0.000	D	1.000	D	1.545	L	.	.	-0.776	T	0.191	T	0.606	3.920	19.94	4.03	0.816	9.028	11.127	0.214	0.0108967158709	0.0002	0.000399361	0.0005	0.0003	0.0012	0	0	0.0005	0.0033	0.0005	0.0004916	76	154602	rs61756249	0.0004	0.0004	0.0004	0.0004	0.0118	0.0003	0.0003	0.0095	0.0087	8.962e-05	0.0017	0.0011	0	0	0.0118	0.0002	0.0009	0.0005	0.0007	0.0007	0.0005	0.0008	0.0032	0.0006	0.0005	0.0025	0.0022	0.0001	0	0.0032	0.0006	0	0	0.0170	0.0004	0.0033	0.0012	0.015	0.56456	D	0.032	0.54159	D	0.861	0.77913	P	0.275	0.67772	B	0.000000	0.84330	D	0.000000	0.999946	0.51968	D	2.05	0.56469	M	.	.	.	-2.11	0.48020	N	0.807	0.80278	-0.7760	0.56526	T	0.191	0.54315	T	9	0.057059377	0.06493	T	0.010897	0.27957	T	0.214	0.50650	.	.	0.705095963704	0.70253	0.6612150767598838	0.66058	0.936315210153	0.72031	0.859403133392	0.91023	D	0.090954	0.38695	T	-0.211463	0.19174	T	-0.089759	0.64180	T	0.0600704327191556	0.07180	T	0.941406	0.78138	D	0.47150517	0.65383	0.22902928	0.47963	0.45484588	0.64348	0.24757326	0.50289	-6.776	0.52380	T	.	.	0.423	0.67952	A	.;.;.;.;.	.;.;.;.;.	4.327387	0.66282	24.9	0.99788819188506084	0.87484	0.96986	0.72034	D	AEFBCI	0.789753	0.71885	D	0.342585578579552	0.58348	4.006607	0.392150897739389	0.61080	4.303278	0.999663631008767	0.41534	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.83	4.03	0.46115	9.207000	0.94192	9.859000	0.82043	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1387:0.717:0.1443	11.127	0.47547	503	0.75780	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1703.11	33	chr7	128957286	.	G	A	1703.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-7.770e-01;DP=811;ExcessHet=0.1072;FS=8.119;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=1.08;SOR=0.973	GT:AD:DP:GQ:PL	0/1:39,28:67:99:676,0,1028	19	0	2	0
chr7	129203555	129203555	G	A	exonic	SMO	.	nonsynonymous SNV	SMO:NM_005631:exon2:c.G503A:p.R168H,	Basal cell carcinoma, somatic;Curry-Jones syndrome, somatic mosaic	.	430	1061	29	2	0	33	0.0153132	.	.	139005	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.768	P	0.372	B	0.000	D	0.954	D	1.8	L	-1.34	T	-0.225	T	0.322	T	0.227	4.281	22.4	4.43	2.584	4.784	8.401	0.426	.	0.0021	0.00958466	0.0095	0.0004	0.0013	0	0.0002	0.0032	0.0158	0.0532	0.0069339	1072	154602	rs61746143	0.0047	0.0047	0.0032	0.0061	0.0462	0.0046	0.0045	0.0450	0.0445	0.0005	0.0017	0.0053	0	0.0006	0.0153	0.0020	0.0048	0.0462	0.0030	0.0030	0.0022	0.0038	0.0458	0.0028	0.0027	0.0408	0.0389	0.0002	0	0.0023	0.0078	0.0004	0	0.0068	0.0024	0.0014	0.0458	0.007	0.59928	D	0.018	0.59732	D	0.768	0.43819	P	0.372	0.43610	B	0.000012	0.62929	D	0.099149	0.954403	0.37876	D	1.64	0.41913	L	-1.34	0.79944	T	-3.08	0.63323	D	0.36	0.40164	-0.2252	0.77013	T	0.322	0.69056	T	10	0.017337203	0.00370	T	.	.	.	0.426	0.73372	.	.	0.856339808068	0.85495	0.4635699264073164	0.46275	1.68521837868	0.90051	0.456530988216	0.32835	T	0.787159	0.94435	D	-0.362033	0.04016	T	-0.260677	0.48757	T	0.0523352547188831	0.05905	T	0.89581	0.63671	D	0.26048836	0.49105	0.115611814	0.27908	0.3058411	0.53423	0.115611814	0.27907	-6.068	0.46844	T	.	.	0.094	0.14293	B	.	.	5.101587	0.85237	28.5	0.99953317081244297	0.99957	0.66007	0.32930	D	AEFDBI	0.238549	0.36065	N	0.434301182156193	0.63319	4.563295	0.492786399810357	0.67511	5.093808	0.999239072247611	0.38840	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	5.5	4.43	0.52967	5.280000	0.65411	8.352000	0.77014	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.181:0.0:0.819:0.0	8.401	0.31747	714	0.56256	Frizzled domain|Frizzled domain|Frizzled domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2768.11	33	chr7	129203555	.	G	A	2768.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-8.400e-01;DP=834;ExcessHet=0.1072;FS=0.622;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=16.68;ReadPosRankSum=-6.530e-01;SOR=0.639	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1160	19	0	2	0
chr7	129212026	129212026	C	T	exonic	SMO	.	nonsynonymous SNV	SMO:NM_005631:exon12:c.C1939T:p.P647S,	Basal cell carcinoma, somatic;Curry-Jones syndrome, somatic mosaic	.	404	1112	6	0	0	6	0.00269058	.	.	139314	not_specified|Hamartoma_of_hypothalamus|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0002444,MONDO:MONDO:0009436,MedGen:C0342418,OMIM:241800|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.43	T	1.0	D	0.994	D	0.000	D	1.000	D	1.1	L	-1.15	T	-0.327	T	0.405	T	0.6	4.885	28.0	5.38	2.508	6.484	15.859	0.265	.	0.0058	0.00299521	0.0087	0.0017	0.0033	0	0.0031	0.0137	0.0051	0.0025	0.0047671	737	154602	rs34545616	0.0083	0.0082	0.0084	0.0082	0.0098	0.0082	0.0081	0.0097	0.0096	0.0016	0.0034	0.0074	2.569e-05	0.0027	0.0037	0.0098	0.0067	0.0014	0.0058	0.0058	0.0064	0.0051	0.0098	0.0054	0.0053	0.0091	0.0089	0.0014	0.0099	0.0052	0.0052	0	0.0018	0.0068	0.0098	0.0076	0.0023	0.17	0.22833	T	0.248	0.23845	T	1.0	0.90584	D	0.994	0.82059	D	0.000017	0.62929	D	0.156184	1	0.81001	D	0.805	0.20218	L	-1.15	0.77964	T	-0.1	0.08495	N	0.428	0.46742	-0.3265	0.74237	T	0.405	0.75501	T	10	0.0077956915	0.00177	T	.	.	.	0.265	0.57870	.	.	0.876241867845	0.87502	0.4153287257471771	0.41448	0.222575520605	0.24794	0.526910185814	0.42600	T	0.314437	0.68611	T	-0.25567	0.13411	T	-0.132067	0.60797	T	0.00955216371888576	0.00124	T	0.819918	0.47811	T	0.07610213	0.17190	0.11243948	0.27129	0.07610213	0.17190	0.11243948	0.27128	-3.6	0.17857	T	.	.	0.209	0.43572	B	.	.	4.257261	0.64674	24.7	0.99925072312637175	0.99042	0.99562	0.97468	D	AEFDBI	0.763296	0.70044	D	0.595185744312949	0.72872	5.874799	0.62533286920446	0.76784	6.555371	0.999999997304296	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.38	5.38	0.77279	6.666000	0.74289	5.911000	0.51023	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	15.859	0.78789	703	0.57489	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	356.98	40	chr7	129212026	.	C	T	356.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.318;DP=727;ExcessHet=0.0000;FS=2.906;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.92;ReadPosRankSum=0.968;SOR=1.371	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr7	129225338	129225338	C	T	exonic	AHCYL2	.	nonsynonymous SNV	AHCYL2:NM_001130720:exon1:c.C262T:p.R88W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.988	D	0.000	D	1.000	D	0.895	L	-1.57	D	0.110	D	0.548	D	0.735	4.913	28.4	4.71	2.447	1.523	10.268	0.507	0.586248585796	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866837381	2.223e-06	6.84e-06	4.388e-06	0	0.0006	5.9e-07	1.6e-07	0.0002	9.078e-05	0	0	0	0	0	0.0006	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.973	0.77976	D	0.000000	0.84330	D	0.000000	0.999659	0.48079	D	0.695	0.17993	N	-1.57	0.81900	D	-1.51	0.37759	N	0.356	0.39760	0.110	0.84354	D	0.548	0.83398	D	10	0.32870767	0.50135	T	0.586249	0.96309	D	0.507	0.78786	0.218	0.13932	0.375384844437	0.37152	0.45568552719086625	0.45486	1.21191904198	0.80859	0.944519877434	0.99608	D	0.113416	0.43043	T	0.200664	0.73954	D	0.0504633	0.73616	D	0.918864667415619	0.57732	D	0.950005	0.80823	D	0.6303817	0.74319	0.5752638	0.75394	0.6303817	0.74320	0.5752638	0.75395	-6.882	0.53166	T	.	.	0.649	0.70880	P	.;.	.;.	5.491561	0.91489	32	0.99889808813301817	0.96436	0.56693	0.30183	D	ALL	0.442566	0.50024	N	0.43808776939733	0.63531	4.588548	0.439724673257064	0.64058	4.652682	0.999999999945881	0.74766	0.441713	0.08003	0	0.218748	0.04544	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	4.71	4.71	0.59010	1.204000	0.31902	7.122000	0.57598	0.466000	0.21733	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.1973:0.8027:0.0:0.0	10.268	0.42646	691	0.58815	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	178.98	35	chr7	129225338	.	C	T	178.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=760;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.46;ReadPosRankSum=-1.225e+00;SOR=0.495	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,971	20	0	1	0
chr7	129451613	129451613	T	C	exonic	STRIP2	.	nonsynonymous SNV	STRIP2:NM_001134336:exon4:c.T275C:p.V92A	.	.	430	1084	7	1	0	9	0.00413413	0.0002	0.012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	B	0.013	B	0.012	N	0.994	D	1.6	L	0.94	T	-1.066	T	0.088	T	0.421	0.533	6.887	3.27	0.662	3.396	9.579	0.079	0.015892376828	.	0.000399361	0.0006	0.0002	8.639e-05	0	0	0	0	0.0043	0.0004916	76	154602	rs570968068	0.0002	0.0002	0.0001	0.0004	0.0040	0.0002	0.0002	0.0037	0.0036	2.987e-05	0	0	0	0	0.0002	0	0.0002	0.0040	0.0001	0.0001	6.427e-05	0.0002	0.0035	7.574e-05	6.279e-05	0.0022	0.0018	2.407e-05	0	0	0	0	0	0	0	0	0.0035	0.518	0.07307	T	0.614	0.07592	T	0.001	0.14184	B	0.002	0.16460	B	0.012451	0.29170	N	0.316635	0.994143	0.42177	D	1.63	0.41750	L	0.94	0.43672	T	-0.45	0.14782	N	0.235	0.26475	-1.0655	0.10432	T	0.088	0.34105	T	9	0.005226195	0.00114	T	0.015892	0.36869	T	0.079	0.23065	.	.	0.225215365344	0.22153	0.18236902444862638	0.18155	0.277347193824	0.30209	0.478532910347	0.35855	T	0.008538	0.07834	T	-0.45088	0.01116	T	-0.420715	0.30994	T	0.0173584750814703	0.00475	T	0.615438	0.23533	T	0.04957262	0.08822	0.042647082	0.05128	0.04957262	0.08822	0.042647082	0.05127	-2.616	0.06829	T	.	.	0.134	0.36966	B	.;.	.;.	2.914601	0.38671	20.8	0.89308535858219351	0.18686	0.79548	0.39439	D	AEFBI	0.114472	0.22546	N	-0.219188378457949	0.32347	1.823248	-0.117446591172619	0.34686	1.998083	0.627915658182146	0.21942	0.651	0.46895	0	0.588066	0.40923	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	4.45	3.27	0.36580	2.164000	0.42013	7.833000	0.70197	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0:0.0:0.1773:0.8227	9.579	0.38644	763	0.50172	Far11/STRP, N-terminal|Far11/STRP, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1891.98	37	chr7	129451613	.	T	C	1891.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.53;DP=860;ExcessHet=0.0000;FS=6.335;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=-2.492e+00;SOR=1.192	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1224	20	0	1	0
chr7	129463042	129463042	T	C	splicing	STRIP2	NM_020704:exon14:c.1551+2T>C;NM_001134336:exon14:c.1551+2T>C	.	.	.	.	.	.	.	.	.	.	.	0.9999	0.894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.674	18.67	5.28	1.988	7.988	14.385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1279608116	2.056e-06	2.052e-06	2.727e-06	1.377e-06	1.162e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.801e-06	0	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275189	0.80900	D	0.157513	0.80652	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.231283	0.87810	29.4	0.99550696615023981	0.71148	0.97096	0.72666	D	AEFDBCI	.	.	.	1.06258030862099	0.97376	16.025	0.888737771522377	0.95063	13.27848	0.999999999696464	0.74766	0.099367	0.02607	0	0.060609	0.00678	0	0.121303	0.03266	0	0.117559	0.03655	0	0.893872	0.56110	5.28	5.28	0.74118	7.778000	0.84271	7.921000	0.74526	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.868000	0.41282	0.0:0.0:0.0:1.0	14.385	0.66504	691	0.58815	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	733.98	40	chr7	129463042	.	T	C	733.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.86;DP=810;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.64;ReadPosRankSum=-1.773e+00;SOR=0.582	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr7	130024342	130024342	C	T	exonic	ZC3HC1	.	nonsynonymous SNV	ZC3HC1:NM_001282191:exon7:c.G941A:p.R314H	.	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.06	B	0.016	B	0.040	N	0.756	D	1.175	L	0.97	T	-0.993	T	0.086	T	0.249	2.177	13.24	3.66	0.672	2.825	10.239	0.017	0.00798130983087	.	0.000199681	8.244e-05	0	0	0.0002	0	6e-05	0	0.0002	7.12e-05	11	154602	rs532243281	3.831e-05	3.831e-05	3.267e-05	4.4e-05	0.0005	3.025e-05	2.719e-05	0.0001	7.838e-05	2.987e-05	0	0	0.0001	1.873e-05	0.0005	2.158e-05	0.0001	0.0002	4.598e-05	4.593e-05	2.571e-05	6.717e-05	0.0002	2.109e-05	1.526e-05	1.171e-05	6.25e-06	4.813e-05	0	6.552e-05	0	0.0002	0	0	4.411e-05	0	0	0.217	0.24468	T	0.171	0.32040	T	0.056	0.23119	B	0.01	0.17743	B	0.039948	0.24113	N	0.448888	0.755577	0.33978	D	1.445	0.36358	L	0.97	0.50976	T	-0.48	0.30762	N	0.163	0.35938	-0.9932	0.31775	T	0.086	0.33578	T	10	0.02876544	0.01007	T	0.007981	0.21162	T	0.017	0.02790	0.257	0.19845	0.550759897685	0.54733	0.1833811266265072	0.18257	0.380324370331	0.39403	0.334584832191	0.15625	T	0.008458	0.07766	T	-0.359713	0.04146	T	-0.449932	0.27704	T	0.0529311148947372	0.06008	T	0.845515	0.55085	T	0.025749762	0.01548	0.034040794	0.02402	0.025749762	0.01548	0.034040794	0.02401	-4.29	0.30122	T	.	.	0.074	0.12512	B	.;.;.;.	.;.;.;.	3.368502	0.46533	22.3	0.97642918733566575	0.35091	0.78334	0.38631	D	AEFBCI	0.228775	0.35240	N	-0.335032732842041	0.27827	1.529817	-0.176279110505656	0.32412	1.843684	0.998982580487661	0.38135	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.48	3.66	0.41111	2.999000	0.49161	2.656000	0.33848	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.908000	0.44358	0.0:0.8356:0.0:0.1644	10.239	0.42479	540	0.73006	Nuclear-interacting partner of ALK/Rsm1-like;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1400.98	34	chr7	130024342	.	C	T	1400.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=7.000e-03;DP=808;ExcessHet=0.0000;FS=3.470;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=1.47;SOR=0.543	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1076	20	0	1	0
chr7	130185190	130185190	A	G	splicing	TMEM209	NM_001363478:exon7:c.948+2T>C;NM_032842:exon7:c.951+2T>C;NM_001301163:exon7:c.951+2T>C	.	.	.	.	433	1067	22	0	0	22	0.0102041	0.9959	0.674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.949	20.2	5.68	2.289	8.809	13.963	.	.	0.0041	0.00539137	0.0062	0.0007	0.0015	0.0001	0.0118	0.0046	0.0090	0.0201	0.0057308	886	154602	rs118139998	0.0062	0.0062	0.0057	0.0067	0.0199	0.0061	0.0060	0.0191	0.0188	0.0007	0.0020	0.0019	2.526e-05	0.0108	0.0084	0.0056	0.0062	0.0199	0.0040	0.0040	0.0036	0.0043	0.0209	0.0037	0.0036	0.0176	0.0164	0.0009	0	0.0024	0.0014	0	0.0103	0	0.0044	0.0066	0.0209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0700465	0.60856	D	0.342777	0.90029	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.252511	0.88193	29.5	0.9952540508935056	0.69530	0.99644	0.98286	D	AEFGBI	.	.	.	1.15176093975212	0.98982	20.14099	1.00463741609727	0.98715	19.12841	0.999999988099062	0.74766	0.163922	0.03765	0	0.156668	0.03792	0	0.137589	0.03823	0	0.09929	0.02979	0	0.977973	0.81886	5.68	5.68	0.88021	8.766000	0.91379	11.208000	0.89295	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.790000	0.37311	1.0:0.0:0.0:0.0	13.963	0.63704	.	.	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1230.98	33	chr7	130185190	.	A	G	1230.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.918;DP=789;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.53;ReadPosRankSum=-1.121e+00;SOR=0.684	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1227	20	0	1	0
chr7	130276689	130276689	T	C	exonic	CPA2	.	nonsynonymous SNV	CPA2:NM_001869:exon7:c.T647C:p.F216S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.53	M	2.83	T	-1.036	T	0.096	T	0.689	3.269	16.97	5.73	2.197	3.072	15.214	0.404	0.0785551842658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000003	0.62929	D	0.062447	0.999967	0.52935	D	2.32	0.66415	M	2.83	0.10771	T	-7.34	0.94594	D	0.661	0.67045	-1.0356	0.18668	T	0.096	0.36263	T	10	0.8845257	0.87775	D	0.078555	0.73031	D	0.404	0.71714	0.733	0.86633	0.680623934228	0.67790	0.8530802209854426	0.85270	0.735993720892	0.62978	0.558810353279	0.47100	T	0.183185	0.53545	T	-0.0035954	0.51156	T	-0.242941	0.50510	T	0.998667597770691	0.94798	D	0.945605	0.79272	D	0.97106665	0.98359	0.9326518	0.97276	0.97106665	0.98359	0.9326518	0.97277	-13.607	0.91709	D	.	.	0.857	0.80150	P	.	.	4.990115	0.82727	27.9	0.9985772734457018	0.93639	0.98471	0.83126	D	AEFDBI	0.860440	0.77830	D	0.624250550076681	0.74711	6.179374	0.558301510314435	0.71977	5.737727	0.999999925132279	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.73	5.73	0.89730	3.067000	0.49706	7.901000	0.73554	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.425000	0.27339	0.0:0.0:0.0:1.0	15.214	0.72940	.	.	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase A, carboxypeptidase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	830.98	49	chr7	130276689	.	T	C	830.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.950e-01;DP=943;ExcessHet=0.0000;FS=1.587;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.62;ReadPosRankSum=-6.140e-01;SOR=0.510	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr7	130680974	130680974	A	C	exonic	TSGA13	.	nonsynonymous SNV	TSGA13:NM_052933:exon4:c.T146G:p.L49R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.967	D	0.029	N	1.000	N	1.04	L	.	.	-0.997	T	0.149	T	0.823	1.579	11.23	3.86	0.902	4.003	7.877	0.296	0.00318005228415	0.0008	.	0.0007	0	0	0	0.0021	0.0012	0	0	0.0006986	108	154602	rs139224962	0.0007	0.0007	0.0006	0.0007	0.0007	0.0006	0.0006	0.0007	0.0007	2.987e-05	4.472e-05	0.0011	0	0.0021	0.0003	0.0007	0.0005	0	0.0008	0.0008	0.0008	0.0008	0.0014	0.0007	0.0006	0.0012	0.0011	2.412e-05	0	0	0.0012	0	0.0017	0	0.0014	0.0010	0	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.967	0.71530	D	0.029175	0.25493	N	0.191293	1	0.08975	N	2.085	0.57729	M	.	.	.	-5.07	0.89534	D	0.717	0.71942	-0.9970	0.30755	T	0.149	0.47610	T	9	0.029405385	0.01068	T	0.00318	0.06966	T	0.296	0.61616	.	.	0.33085137897	0.32697	0.4083775895363053	0.40753	0.173389659189	0.19527	0.559463918209	0.47192	T	0.279331	0.65200	T	-0.0939138	0.37428	T	0.0861557	0.75989	D	0.234481927606483	0.22163	T	0.579442	0.21167	T	0.71794015	0.79047	0.6619948	0.80191	0.71794015	0.79049	0.6619948	0.80192	-4.192	0.26635	T	.	.	0.178	0.50799	B	.;.;.;.	.;.;.;.	3.962798	0.58130	23.9	0.9516530966056479	0.26316	0.71291	0.34950	D	AEFBI	0.200226	0.32697	N	0.0831956920421118	0.45680	2.820476	-0.0392725478160781	0.37959	2.229673	0.978590102456957	0.29938	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.04	3.86	0.43689	4.001000	0.56758	7.954000	0.75900	0.750000	0.87069	0.997000	0.40164	1.000000	0.68203	0.051000	0.15275	0.8165:0.0:0.0:0.1835	7.877	0.28762	933	0.16026	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1644.98	34	chr7	130680974	.	A	C	1644.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.348;DP=856;ExcessHet=0.0000;FS=2.115;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=1.77;SOR=0.746	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr7	131556276	131556276	-	GGCGAC	exonic	PODXL	.	nonframeshift insertion	PODXL:NM_001018111:exon1:c.83_84insGTCGCC:p.S31_Q32insPS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	24221.88	24	chr7	131556270	.	GGGCGAC	G,GGGCGACGGCGAC	24221.88	.	AC=15,13;AF=0.357,0.310;AN=42;BaseQRankSum=0.430;DP=932;ExcessHet=0.0019;FS=0.000;InbreedingCoeff=0.5714;MLEAC=15,13;MLEAF=0.357,0.310;MQ=60.00;MQRankSum=0.00;QD=33.09;ReadPosRankSum=0.348;SOR=0.686	GT:AD:DP:GQ:PL	2/2:0,0,50:50:99:2199,2200,2200,150,150,0	5	3	3	0
chr7	132185330	132185330	C	T	exonic	PLXNA4	.	nonsynonymous SNV	PLXNA4:NM_020911:exon16:c.G3127A:p.V1043M,	.	.	439	1077	6	0	0	6	0.00277778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.359	B	0.133	B	0.003	N	1.000	N	-0.255	N	-1.03	T	-0.828	T	0.122	T	0.172	1.960	12.51	4.7	2.653	1.887	3.924	0.172	0.0247296616752	0.0044	0.00199681	0.0042	0.0020	0.0003	0.0002	0.0080	0.0057	0.0011	0.0031	0.0044437	687	154602	rs117458710	0.0074	0.0074	0.0076	0.0072	0.0086	0.0073	0.0072	0.0085	0.0084	0.0017	0.0009	0.0003	0.0001	0.0073	0.0018	0.0086	0.0071	0.0030	0.0051	0.0051	0.0050	0.0052	0.0076	0.0048	0.0047	0.0071	0.0069	0.0025	0	0.0016	0	0	0.0098	0	0.0076	0.0028	0.0035	0.141	0.25560	T	0.131	0.34596	T	0.359	0.33845	B	0.133	0.33073	B	0.002916	0.35737	N	0.292253	0.521063	0.31569	N	-1.1	0.00987	N	-1.03	0.76430	T	0.26	0.04380	N	0.062	0.03392	-0.8275	0.53461	T	0.122	0.42441	T	10	0.0066788495	0.00151	T	0.02473	0.47716	T	0.172	0.43662	.	.	0.383609287871	0.37977	0.4264179063328939	0.42558	0.785918321015	0.65509	0.407312810421	0.26084	T	0.090363	0.38568	T	-0.430865	0.01464	T	-0.383723	0.35285	T	0.0220636118758631	0.00916	T	0.856214	0.54490	D	0.03066011	0.02769	0.047337417	0.06798	0.03066011	0.02769	0.047337417	0.06797	-4.798	0.34568	T	.	.	0.069	0.03197	B	.;.	.;.	2.418979	0.31099	18.64	0.9925904640330484	0.57155	0.80489	0.40113	D	AEFDBI	0.247847	0.36835	N	-0.165443884981023	0.34580	1.976	0.013105541400632	0.40323	2.404568	0.999669648515842	0.41534	0.562547	0.31514	0	0.573888	0.26702	0	0.608075	0.38828	0	0.635551	0.53088	0	.	.	5.6	4.7	0.58776	1.918000	0.39636	0.167000	0.15474	0.599000	0.40250	1.000000	0.71638	0.005000	0.19230	0.921000	0.45669	0.1283:0.5306:0.2484:0.0927	3.924	0.08754	911	0.21964	IPT domain|IPT domain;IPT domain|IPT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1207.98	33	chr7	132185330	.	C	T	1207.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.044e+00;DP=792;ExcessHet=0.0000;FS=2.666;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.08;ReadPosRankSum=1.83;SOR=0.446	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1364	20	0	1	0
chr7	133070168	133070168	C	T	exonic	CHCHD3	.	nonsynonymous SNV	CHCHD3:NM_001317177:exon2:c.G143A:p.R48Q	.	.	588	933	1	0	0	1	0.000535619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.233	B	0.019	B	0.200	N	0.994	N	0	N	0.97	T	-1.042	T	0.042	T	0.39	1.935	12.43	3.63	1.563	1.469	7.663	0.064	0.00372693789545	.	0.000798722	0.0001	0.0011	0.0002	0	0	0	0	6.095e-05	0.0001294	20	154602	rs555810472	3.835e-05	3.831e-05	3.407e-05	4.268e-05	0.0009	3.029e-05	2.722e-05	0.0006	0.0006	0.0009	2.245e-05	0	0	1.873e-05	0	8.095e-06	9.956e-05	0.0001	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0008	0.0007	0.0010	0	0.0001	0	0	0	0	1.47e-05	0	0	0.67	0.13306	T	0.89	0.03324	T	0.0	0.30696	B	0.001	0.18783	B	0.199935	0.16626	N	0.620952	0.999639	0.23627	N	.	.	.	0.97	0.42502	T	0.12	0.05604	N	0.193	0.21188	-1.0424	0.16592	T	0.042	0.17910	T	10	0.010251075	0.00229	T	0.003727	0.08651	T	0.064	0.18567	.	.	0.363944505237	0.36005	0.14827947587332665	0.14749	0.224213460693	0.24945	0.425208091736	0.28553	T	0.047788	0.27827	T	-0.435655	0.01372	T	-0.439098	0.28910	T	0.0261386656325972	0.01425	T	0.782822	0.41925	T	0.029633377	0.02490	0.03111557	0.01657	0.029633377	0.02489	0.03111557	0.01657	-2.367	0.04935	T	.	.	0.085	0.10014	B	.;.	.;.	2.942921	0.39137	20.9	0.99588051323203497	0.73454	0.50746	0.28734	D	AEFBI	0.118220	0.23127	N	-0.432595764276615	0.24333	1.313183	-0.221872138913767	0.30754	1.734308	0.969399217826526	0.29125	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.5	3.63	0.40741	1.474000	0.35006	2.581000	0.33416	0.599000	0.40250	0.894000	0.31287	0.998000	0.33993	0.665000	0.33109	0.0:0.7489:0.1638:0.0873	7.663	0.27584	759	0.50631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	733.98	33	chr7	133070168	.	C	T	733.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.140e-01;DP=747;ExcessHet=0.0000;FS=1.052;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=0.729;SOR=0.487	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,918	20	0	1	0
chr7	134163425	134163425	G	T	exonic	LRGUK	.	nonsynonymous SNV	LRGUK:NM_001365700:exon7:c.G824T:p.G275V	.	.	431	1077	14	0	0	14	0.00645756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.988	D	0.954	D	0.000	D	1.000	D	2.795	M	-0.21	T	0.022	D	0.451	T	0.532	2.816	15.38	5.94	2.817	4.643	19.116	0.375	0.0442243274613	0.0004	0.00119808	0.0011	0	0.0002	0	0	0.0004	0.0011	0.0065	0.000912	141	154602	rs151096154	0.0005	0.0005	0.0003	0.0007	0.0059	0.0005	0.0005	0.0055	0.0053	0	0.0002	0.0029	0	0	0.0026	6.746e-05	0.0006	0.0059	0.0003	0.0003	0.0003	0.0004	0.0046	0.0003	0.0002	0.0031	0.0026	0	0	0.0003	0.0035	0.0002	0	0	0.0001	0.0005	0.0046	0.002	0.72154	D	0.007	0.69154	D	0.988	0.62325	D	0.954	0.69447	D	0.000220	0.47681	D	0.187222	0.999999	0.58761	D	2.75	0.80375	M	-0.21	0.66294	T	-6.23	0.90490	D	0.625	0.63968	0.022	0.82694	D	0.451	0.78497	T	10	0.013947934	0.00294	T	0.044224	0.61383	D	0.375	0.69358	.	.	0.759413666507	0.75722	0.5123889596735361	0.51160	0.341207361243	0.36058	0.423825770617	0.28363	T	0.060127	0.31303	T	-0.272933	0.11432	T	-0.162214	0.58151	T	0.130916499232425	0.15466	T	0.806819	0.45619	T	0.9443252	0.95688	0.8603727	0.92204	0.9443252	0.95688	0.8603727	0.92205	-12.855	0.88757	D	.	.	0.452	0.69411	A	.;.	.;.	4.620023	0.73354	26.0	0.9971063638030232	0.81283	0.95142	0.63592	D	AEFGBI	0.446843	0.50273	N	0.690605609038825	0.79018	6.989674	0.614683858076732	0.76004	6.412114	0.999732947377007	0.42341	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.94	5.94	0.96165	5.885000	0.69480	11.848000	0.97994	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.304000	0.24594	0.0:0.0:1.0:0.0	19.116	0.93327	863	0.32847	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1136.98	33	chr7	134163425	.	G	T	1136.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=784;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=1.44;SOR=0.675	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1171	20	0	1	0
chr7	134183816	134183816	C	T	exonic	LRGUK	.	nonsynonymous SNV	LRGUK:NM_001365700:exon11:c.C1297T:p.R433C	.	.	431	1081	10	0	0	10	0.00460405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.000	D	1.000	D	2.795	M	0.94	T	-0.656	T	0.128	T	0.731	4.115	21.2	5.83	2.763	2.707	13.828	0.312	.	0.0056	0.0125799	0.0088	0.0017	0.0030	0.0435	0.0079	0.0076	0.0099	0.0047	0.0087903	1359	154602	rs76794740	0.0094	0.0094	0.0095	0.0093	0.0419	0.0093	0.0092	0.0402	0.0396	0.0014	0.0034	0.0075	0.0419	0.0078	0.0026	0.0092	0.0097	0.0056	0.0068	0.0068	0.0068	0.0069	0.0425	0.0065	0.0064	0.0379	0.0361	0.0016	0.0011	0.0032	0.0072	0.0425	0.0082	0	0.0082	0.0080	0.0031	0.02	0.49613	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000233	0.47286	D	0.135398	0.999649	0.48019	D	2.895	0.83812	M	0.94	0.43672	T	-6.53	0.91741	D	0.384	0.42541	-0.6560	0.62452	T	0.128	0.43645	T	10	0.008742303	0.00198	T	.	.	.	0.312	0.63375	.	.	0.572487460518	0.56915	0.7334607603874982	0.73291	0.35204900141	0.37038	0.555587410927	0.46644	T	0.011838	0.10501	T	-0.303006	0.08379	T	-0.175888	0.56901	T	0.0412372014981922	0.03914	T	0.80432	0.47377	T	0.42267302	0.62269	0.3523191	0.60812	0.42267302	0.62270	0.3523191	0.60811	-9.91	0.73371	D	.	.	0.441	0.61735	A	.;.	.;.	4.975394	0.82369	27.8	0.99931100785188209	0.99387	0.81456	0.40856	D	AEFGBI	0.423587	0.48911	N	0.776100395042629	0.84592	8.330642	0.737109258614694	0.85192	8.507453	0.999996313576133	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.616125	0.45549	0	.	.	5.83	5.83	0.93059	2.891000	0.48316	5.959000	0.51789	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.1531:0.8468:0.0:0.0	13.828	0.62852	868	0.31772	Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1565.98	49	chr7	134183816	.	C	T	1565.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.740e-01;DP=1009;ExcessHet=0.0000;FS=1.343;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.11;ReadPosRankSum=-1.265e+00;SOR=0.865	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1449	20	0	1	0
chr7	134191701	134191701	G	A	exonic	LRGUK	.	nonsynonymous SNV	LRGUK:NM_001365700:exon12:c.G1381A:p.V461I	.	.	430	1086	6	0	0	6	0.00275482	.	.	2329796	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.854	P	0.609	P	0.000	D	0.842	N	1.485	L	0.99	T	-0.895	T	0.129	T	0.143	3.156	16.55	5.68	2.672	0.868	9.474	0.086	0.00805887798446	.	.	0.0002	0	0.0002	0	0	0.0002	0	0.0001	0.0001552	24	154602	rs759692358	0.0002	0.0002	0.0002	0.0002	0.0047	0.0002	0.0002	0.0033	0.0028	0.0008	0.0002	0	0	0	0.0047	0.0002	0.0005	9.298e-05	9.194e-05	9.186e-05	8.994e-05	9.403e-05	0.0004	5.525e-05	4.362e-05	7.301e-05	3.033e-05	4.814e-05	0	0	0.0003	0	0.0002	0.0034	7.35e-05	0.0005	0.0004	0.154	0.24277	T	0.105	0.38016	T	0.854	0.47077	P	0.609	0.51053	P	0.000436	0.44522	D	0.090275	0.842248	0.28614	N	1.96	0.53105	M	0.99	0.41750	T	-0.37	0.13226	N	0.153	0.15749	-0.8955	0.48437	T	0.129	0.43686	T	10	0.1643143	0.30744	T	0.008059	0.21368	T	0.086	0.25016	.	.	0.680795644034	0.67808	0.3031122014587767	0.30224	0.245867236024	0.27115	0.417370408773	0.27476	T	9.52E-4	0.00501	T	-0.415294	0.01834	T	-0.554883	0.16859	T	0.107243038713932	0.13135	T	0.840116	0.51562	T	0.09378874	0.22037	0.076832294	0.17056	0.09378874	0.22037	0.076832294	0.17055	-6.457	0.49953	T	.	.	0.171	0.37501	B	.;.	.;.	3.733241	0.53412	23.4	0.99763187213411308	0.85254	0.73113	0.35768	D	AEFGI	0.095559	0.19304	N	0.404904973453133	0.61691	4.373713	0.454896591312234	0.65030	4.772671	0.998907429495253	0.37938	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.68	5.68	0.88021	0.633000	0.24289	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.1321:0.6114:0.2565	9.474	0.38025	875	0.30485	Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1841.98	36	chr7	134191701	.	G	A	1841.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.495;DP=865;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=1.14;SOR=0.669	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1164	20	0	1	0
chr7	134199257	134199257	G	A	exonic	LRGUK	.	nonsynonymous SNV	LRGUK:NM_001365700:exon14:c.G1583A:p.R528H	.	.	439	1076	7	0	0	7	0.00324224	.	.	3185132	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	2.8	M	2.26	T	-0.918	T	0.120	T	0.891	5.138	32	6.11	2.906	6.381	20.329	0.437	.	0.0056	0.00299521	0.0057	0.0009	0.0022	0.0001	0.0165	0.0076	0.0077	0.0022	0.0055691	861	154602	rs61753513	0.0059	0.0059	0.0060	0.0058	0.0057	0.0058	0.0058	0.0055	0.0055	0.0010	0.0019	0.0323	2.523e-05	0.0149	0.0012	0.0057	0.0069	0.0019	0.0050	0.0050	0.0047	0.0053	0.0051	0.0047	0.0046	0.0047	0.0045	0.0011	0.0121	0.0015	0.0366	0	0.0168	0.0034	0.0051	0.0066	0.0027	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000002	0.62929	D	0.000000	0.999889	0.50402	D	2.565	0.75005	M	2.26	0.17596	T	-4.43	0.77554	D	0.871	0.86833	-0.9182	0.45797	T	0.120	0.42015	T	10	0.010990262	0.00242	T	.	.	.	0.437	0.74164	.	.	0.681819901562	0.67911	0.6592648641722935	0.65863	0.340002723754	0.35944	0.596505463123	0.52411	T	0.00581	0.05258	T	-0.143317	0.29364	T	0.0238312	0.71879	D	0.0326715590395157	0.02417	T	0.953605	0.83911	D	0.6505759	0.75395	0.6110574	0.77374	0.6505759	0.75396	0.6110574	0.77375	-12.356	0.86541	D	.	.	0.329	0.55117	B	.;.	.;.	5.573080	0.92235	32	0.999421586567528	0.99824	0.97339	0.74126	D	AEFBI	0.707820	0.66243	D	0.938169765441384	0.93500	12.08086	0.913782718662565	0.96145	14.354	0.999999999786399	0.74766	0.516011	0.20929	0	0.547309	0.14657	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	6.11	6.11	0.99132	6.189000	0.71974	11.875000	0.98678	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.329	0.98710	876	0.30350	Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	871.98	34	chr7	134199257	.	G	A	871.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=784;ExcessHet=0.0000;FS=2.673;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.81;ReadPosRankSum=0.218;SOR=0.977	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1183	20	0	1	0
chr7	134209000	134209000	T	C	exonic	LRGUK	.	nonsynonymous SNV	LRGUK:NM_001365700:exon16:c.T2140C:p.S714P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999777	0.48980	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.10483396	0.19347	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158484	0.01410	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05145	B	.	.	-0.682369	0.01361	0.077	0.49984161383594239	0.04305	0.02836	0.07583	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999999775021	0.74766	0.080785	0.02172	0	0.085267	0.02369	0	0.083675	0.02720	0	0.10565	0.03146	0	0.100775	0.22323	5.52	-9.73	0.00427	-1.415000	0.02575	-3.187000	0.02987	-0.237000	0.07570	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0935:0.1373:0.536:0.2333	6.063	0.19074	877	0.30165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	31.1	1	chr7	134209000	.	T	C	31.1	.	AC=1;AF=0.050;AN=20;BaseQRankSum=-1.383e+00;DP=121;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1309;MLEAC=2;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=7.77;ReadPosRankSum=0.674;SOR=0.693	GT:AD:DP:GQ:PL	./.	9	0	1	11
chr7	134210113	134210113	G	A	exonic	LRGUK	.	nonsynonymous SNV	LRGUK:NM_001365700:exon16:c.G3253A:p.A1085T	.	.	1210	310	1	1	0	3	0.00481541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	.	.	.	.	.	.	.	.	0.000718	111	154602	rs113987610	0.0054	0.0024	0.0054	0.0053	0.0057	0.0051	0.0050	0.0054	0.0053	0.0004	0.0036	0.0045	0	0.0130	0.0039	0.0057	0.0040	0	0.0042	0.0042	0.0041	0.0043	0.0056	0.0039	0.0038	0.0052	0.0050	0.0009	0.0121	0.0041	0.0066	0	0.0098	0.0034	0.0056	0.0090	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999987	0.18198	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0051732957	0.00112	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227477	0.03026	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.15115	B	.	.	0.406270	0.07776	4.460	0.69485390337206165	0.08987	0.10895	0.16267	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999992998058171	0.74766	0.078448	0.01964	0	0.059962	0.00310	0	0.083675	0.02720	0	0.058706	0.01089	0	0.138442	0.26567	5.42	1.35	0.21078	0.644000	0.24455	0.333000	0.17304	0.590000	0.31872	0.105000	0.22895	0.000000	0.08366	0.003000	0.05239	0.1951:0.3386:0.4663:0.0	4.853	0.12908	877	0.30165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	35.65	1	chr7	134210113	.	G	A	35.65	.	AC=2;AF=0.067;AN=30;DP=72;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.1654;MLEAC=2;MLEAF=0.067;MQ=60.00;QD=17.82;SOR=0.693	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,31	14	1	0	6
chr7	134210190	134210190	G	T	exonic	LRGUK	.	nonsynonymous SNV	LRGUK:NM_001365700:exon16:c.G3330T:p.Q1110H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.952e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999331	0.21346	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116660744	0.22012	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183282	0.01882	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.33063	B	.	.	0.238339	0.06189	2.638	0.58930440870872591	0.06106	0.20130	0.20926	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.999991648724217	0.74766	0.162113	0.03585	0	0.096583	0.02683	0	0.175069	0.04249	0	0.10565	0.03146	0	0.0451697	0.04216	5.29	4.35	0.51454	0.883000	0.27838	0.403000	0.18023	-0.264000	0.06851	0.002000	0.15269	0.000000	0.08366	0.004000	0.06068	0.116:0.0:0.884:0.0	8.8	0.34062	877	0.30165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	35.4	75	chr7	134210190	.	G	T	35.4	.	AC=2;AF=0.071;AN=28;DP=75;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2464;MLEAC=2;MLEAF=0.071;MQ=60.00;QD=17.70;SOR=0.693	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,49	13	1	0	7
chr7	134247605	134247605	T	C	exonic	LRGUK	.	nonsynonymous SNV	LRGUK:NM_144648:exon17:c.T2033C:p.M678T,	.	.	423	1081	18	0	0	18	0.00825688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.039	B	0.023	B	0.206	N	0.990	N	1.78	L	1.3	T	-1.006	T	0.053	T	0.194	0.944	8.847	3.38	0.432	1.161	6.247	0.023	.	0.0079	0.00379393	0.0086	0.0016	0.0055	0	0.0142	0.0123	0.0088	0.0023	0.0083828	1296	154602	rs34904752	0.0089	0.0089	0.0091	0.0087	0.0121	0.0088	0.0087	0.0099	0.0099	0.0015	0.0054	0.0015	2.52e-05	0.0128	0.0121	0.0101	0.0093	0.0021	0.0068	0.0068	0.0070	0.0066	0.0103	0.0064	0.0063	0.0096	0.0094	0.0019	0	0.0057	0.0003	0	0.0129	0.0204	0.0103	0.0090	0.0015	0.704	0.04120	T	0.426	0.13872	T	0.039	0.21116	B	0.023	0.19966	B	0.206103	0.16479	N	0.640417	0.990165	0.24206	N	1.7	0.43825	L	1.3	0.35590	T	-0.67	0.19297	N	0.413	0.45331	-1.0055	0.28307	T	0.053	0.22384	T	10	0.007685095	0.00175	T	.	.	.	0.023	0.04649	.	.	0.465381546717	0.46164	0.1637247789356494	0.16292	0.058629802935	0.06498	0.428148508072	0.28956	T	0.004519	0.03927	T	-0.540982	0.00330	T	-0.539471	0.18348	T	0.00670411848516275	0.00075	T	0.468553	0.13811	T	0.10672585	0.25235	0.111024044	0.26777	0.10672585	0.25235	0.111024044	0.26776	-3.656	0.18671	T	.	.	0.110	0.21277	B	.	.	2.388698	0.30670	18.51	0.86297210771653698	0.16442	0.60187	0.31124	D	AEFGBI	0.088050	0.17850	N	-0.377254738314684	0.26282	1.43315	-0.260500510812466	0.29410	1.647571	0.654893918892932	0.22206	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.83	3.38	0.37806	1.237000	0.32298	4.407000	0.43268	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.839000	0.39591	0.0:0.0792:0.3128:0.608	6.247	0.20038	894	0.26265	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1483.98	34	chr7	134247605	.	T	C	1483.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.850e-01;DP=831;ExcessHet=0.0000;FS=1.404;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=-2.600e-01;SOR=0.770	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1204	20	0	1	0
chr7	134530754	134530754	C	T	exonic	AKR1B10	.	stopgain	AKR1B10:NM_020299:exon2:c.C178T:p.Q60X,	.	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	.	.	.	.	0.002	N	1.000	A	.	.	.	.	.	.	.	.	.	7.387	39	4.74	2.358	4.258	17.128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002349	0.36727	N	0.275946	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.775	0.77226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.528224	0.95112	D	0.520981	0.95039	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.126258	0.98501	39	0.99841790966718147	0.92229	0.90311	0.51386	D	AEFBHCI	0.088865	0.18014	N	0.914191964924193	0.92437	11.42293	0.755757395911069	0.86588	8.937131	0.999999999743471	0.74766	0.549168	0.22868	0	0.563428	0.19063	0	0.573888	0.23631	0	0.616125	0.45549	0	.	.	4.74	4.74	0.59717	3.454000	0.52750	2.927000	0.35595	0.541000	0.25215	1.000000	0.71638	0.180000	0.23413	0.995000	0.73285	0.0:1.0:0.0:0.0	17.128	0.86596	833	0.38804	NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2565.98	36	chr7	134530754	.	C	T	2565.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.086;DP=927;ExcessHet=0.0000;FS=4.298;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.98;MQRankSum=0.00;QD=13.95;ReadPosRankSum=0.265;SOR=0.440	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr7	134538258	134538258	G	A	exonic	AKR1B10	.	nonsynonymous SNV	AKR1B10:NM_020299:exon8:c.G806A:p.R269H,	.	.	418	1090	14	0	0	14	0.00638104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.02	B	0.022	B	0.000	N	1.000	D	1.925	M	1.9	T	-1.077	T	0.064	T	0.299	2.666	14.87	2.69	0.452	3.118	10.177	0.081	0.0132954678695	0.0013	0.000798722	0.0027	0.0011	0.0020	0	0	0.0021	0.0077	0.0087	0.0023609	365	154602	rs146556418	0.0024	0.0024	0.0021	0.0027	0.0089	0.0023	0.0023	0.0084	0.0081	0.0023	0.0021	7.653e-05	0.0002	5.616e-05	0.0071	0.0021	0.0027	0.0089	0.0019	0.0020	0.0018	0.0021	0.0085	0.0018	0.0017	0.0064	0.0057	0.0020	0	0.0027	0	0.0004	9.423e-05	0.0034	0.0017	0.0038	0.0085	0.051	0.39334	T	0.094	0.39645	T	0.02	0.18235	B	0.022	0.19653	B	0.000002	0.62929	N	0.104408	0.999985	0.54805	D	1.275	0.32135	L	1.9	0.23486	T	-3.81	0.71882	D	0.392	0.43320	-1.0772	0.07901	T	0.064	0.26562	T	10	0.012001812	0.00260	T	0.013295	0.32578	T	0.081	0.23632	.	.	0.290590437066	0.28656	0.7265906804854775	0.72603	0.0417484063962	0.04490	0.27160820365	0.06352	T	0.209792	0.57010	T	-0.514587	0.00473	T	-0.505264	0.21803	T	0.0466400836865233	0.04900	T	0.743426	0.36288	T	0.41403872	0.61692	0.18016008	0.40797	0.41403872	0.61693	0.18016008	0.40796	-8.055	0.61445	D	.	.	0.430	0.61171	A	.	.	2.242027	0.28630	17.86	0.9882154788464238	0.46786	0.85467	0.44602	D	AEFBHCI	0.604892	0.59581	D	-0.393098212925703	0.25713	1.397952	-0.381319867669791	0.25555	1.406028	0.999999953660407	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.53	2.69	0.30923	2.718000	0.46904	-0.185000	0.11094	0.586000	0.30580	0.998000	0.41325	0.000000	0.08366	0.058000	0.15825	0.1675:0.0:0.8325:0.0	10.177	0.42122	814	0.42100	NADP-dependent oxidoreductase domain|Aldo/keto reductase, conserved site|NADP-dependent oxidoreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2598.98	36	chr7	134538258	.	G	A	2598.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.490e-01;DP=914;ExcessHet=0.0000;FS=2.459;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.13;ReadPosRankSum=-1.228e+00;SOR=0.872	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1453	20	0	1	0
chr7	134576422	134576422	A	G	exonic	AKR1B15	.	nonsynonymous SNV	AKR1B15:NM_001367820:exon8:c.A817G:p.T273A	.	.	434	1083	4	1	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.003	B	0.007	B	.	.	1.000	N	-0.42	N	2.35	T	-0.985	T	0.009	T	0.07	-1.354	0.028	-6.91	-2.183	-5.815	2.407	0.012	0.00351951629914	0.0042	0.000998403	0.0035	0.0012	0.0034	0.0007	0.0005	0.0049	0.0022	0.0018	0.0033829	523	154602	rs2458502	0.0047	0.0047	0.0048	0.0046	0.0056	0.0046	0.0046	0.0055	0.0054	0.0007	0.0040	0.0001	0.0004	0.0006	0.0021	0.0056	0.0035	0.0018	0.0034	0.0034	0.0034	0.0034	0.0055	0.0032	0.0031	0.0051	0.0049	0.0008	0	0.0050	0.0009	0	0.0008	0.0034	0.0055	0.0061	0.0019	0.367	0.11659	T	0.2	0.27591	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.63	0.02141	N	2.35	0.16217	T	-0.42	0.14193	N	0.196	0.21580	-0.9850	0.33832	T	0.009	0.03359	T	9	0.017938107	0.00386	T	0.00352	0.08000	T	0.012	0.01476	.	.	0.0401082797425	0.02173	0.2964700184060892	0.29560	0.0411031891715	0.04411	0.271098166704	0.06284	T	.	.	.	-0.747944	0.00018	T	-0.84342	0.01048	T	0.00570585781265705	0.00062	T	0.431557	0.11736	T	.	.	.	.	.	.	.	.	-4.391	0.29435	T	.	.	0.059	0.00861	B	.;.	.;.	-1.991821	0.00103	0.002	0.2796300991337714	0.01413	0.00840	0.03368	N	AEFBI	0.031874	0.03493	N	-1.97895522058099	0.00235	0.01006105	-2.05578042454384	0.00232	0.01024356	0.999835651868481	0.43792	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.46	-6.91	0.01490	-6.766000	0.00067	-7.385000	0.01168	-2.373000	0.00302	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2716:0.2406:0.3777:0.1102	2.407	0.04145	754	0.51307	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1298.98	37	chr7	134576422	.	A	G	1298.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.570e-01;DP=872;ExcessHet=0.0000;FS=1.388;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.84;ReadPosRankSum=0.481;SOR=0.606	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1271	20	0	1	0
chr7	134933632	134933632	T	C	exonic	CALD1	.	nonsynonymous SNV	CALD1:NM_033138:exon5:c.T863C:p.I288T,	.	.	388	1133	1	0	0	1	0.000441112	.	.	3302514	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.007	B	0.011	B	0.414	N	1.000	N	0.69	N	0.96	T	-1.033	T	0.064	T	0.106	0.839	8.387	1.09	0.639	-0.260	2.429	0.037	0.00980306763966	.	.	0.0001	0.0001	0.0001	0.0005	0	2.11e-05	0	0.0003	6.47e-05	10	154602	rs781302656	4.182e-05	4.173e-05	3.135e-05	5.24e-05	0.0038	3.317e-05	3.007e-05	0.0026	0.0022	0	0	0	0.0002	1.879e-05	0.0038	3.602e-06	9.947e-05	0.0002	2.635e-05	2.627e-05	0	5.395e-05	0.0004	8.16e-06	5.15e-06	7.341e-05	3.048e-05	0	0	0	0	0.0004	0	0	0	0	0.0004	0.022	0.48642	D	0.59	0.08217	T	0.007	0.14184	B	0.011	0.15521	B	0.413769	0.04607	N	1.441380	1	0.08975	N	1.39	0.34934	L	0.96	0.42888	T	-0.3	0.11913	N	0.151	0.15469	-1.0332	0.19427	T	0.064	0.26597	T	9	0.034806788	0.01703	T	0.009803	0.25563	T	0.037	0.09474	0.487	0.57098	0.158540857583	0.15491	0.013478634088548798	0.01305	0.186432944156	0.20951	0.428651809692	0.29024	T	0.217316	0.57973	T	-0.491746	0.00636	T	-0.633617	0.10141	T	0.00677375200573242	0.00076	T	0.50025	0.15636	T	0.028400328	0.02172	0.039289877	0.03988	0.028400328	0.02171	0.039289877	0.03987	-3.947	0.23008	T	.	.	0.087	0.11317	B	.	.	1.647502	0.21022	15.02	0.84659145093805876	0.15421	0.08620	0.14524	N	AEFDBI	.	.	.	-0.839990573048808	0.12297	0.5985358	-0.813668139641871	0.14165	0.7387186	0.999805278406547	0.43304	0.732398	0.92422	0	0.449817	0.06596	2	0.743671	0.96076	0	0.735409	0.98432	0	.	.	4.75	1.09	0.19517	-0.273000	0.08580	0.640000	0.20311	0.665000	0.62972	0.000000	0.06391	0.005000	0.19230	0.992000	0.67800	0.2169:0.2402:0.0:0.5429	2.429	0.04195	702	0.57624	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	876.98	52	chr7	134933632	.	T	C	876.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.090;DP=810;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.62;ReadPosRankSum=-5.070e-01;SOR=0.811	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	20	0	1	0
chr7	134947563	134947563	G	A	exonic	CALD1	.	nonsynonymous SNV	CALD1:NM_033140:exon5:c.G805A:p.V269M	.	.	420	1096	6	0	0	6	0.00272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.986	D	0.905	P	0.019	N	0.985	N	2.34	M	0.65	T	-0.871	T	0.181	T	0.259	1.082	9.416	4.06	1.075	2.034	8.680	0.165	.	0.0067	0.00359425	0.0124	0.0016	0.0063	0	0.0275	0.0228	0	0.0048	0.0058279	901	154602	rs35067327	0.0099	0.0098	0.0099	0.0098	0.0115	0.0097	0.0097	0.0113	0.0112	0.0014	0.0024	0.0055	0	0.0083	0.0030	0.0115	0.0074	0.0042	0.0067	0.0067	0.0072	0.0062	0.0117	0.0063	0.0062	0.0110	0.0108	0.0016	0.0088	0.0016	0.0075	0	0.0071	0	0.0117	0.0038	0.0029	0.042	0.54683	D	0.138	0.41074	T	0.514	0.61523	P	0.452	0.64260	P	0.018803	0.27398	N	0.169689	0.985209	0.24732	N	2.32	0.66415	M	0.65	0.52642	T	-0.51	0.23156	N	0.29	0.46368	-0.8706	0.50484	T	0.181	0.52889	T	10	0.008723199	0.00198	T	.	.	.	0.165	0.42395	.	.	0.524636165829	0.52109	0.012877679915604491	0.01245	0.146789417381	0.16567	0.558288216591	0.47026	T	0.116245	0.62507	T	-0.43735	0.01340	T	-0.387373	0.34861	T	0.051932320686832	0.05836	T	0.963754	0.87984	D	0.0527335	0.09877	0.07530616	0.16567	0.0527335	0.09876	0.07530616	0.16566	-4.949	0.38117	T	.	.	0.156	0.40392	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.798384	0.54714	23.5	0.95788504027778065	0.27823	0.76453	0.37497	D	AEFDBI	0.415837	0.48454	N	-0.118425637966304	0.36591	2.117086	-0.222554232845467	0.30729	1.73274	0.99991753074218	0.45857	0.706548	0.73137	0	0.59043	0.45803	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.94	4.06	0.46572	2.469000	0.44768	10.635000	0.83508	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.065000	0.16320	0.0854:0.153:0.7616:0.0	8.680	0.33367	846	0.36215	.;.;.;.;.;.;.;.	.	.	.	.	rs35067327	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	487.98	35	chr7	134947563	.	G	A	487.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.180e-01;DP=745;ExcessHet=0.0000;FS=1.133;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.38;ReadPosRankSum=0.907;SOR=0.990	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,915	20	0	1	0
chr7	135010174	135010174	G	A	exonic	AGBL3	.	nonsynonymous SNV	AGBL3:NM_001367815:exon4:c.G257A:p.R86H	.	.	766	749	4	3	0	10	0.0066313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.97	T	.	.	.	.	.	.	1.000	N	.	.	1.16	T	-1.031	T	0.013	T	0.029	-3.916	0.001	-0.298	-2.759	-2.185	.	0.018	.	.	0.00479233	0.0129	0	0	0	.	0	0	0.0204	0.0007633	118	154602	rs140099230	0.0031	0.0013	0.0017	0.0041	0.0122	0.0029	0.0028	0.0114	0.0110	0	0.0005	0	0.0104	0	0.0056	0.0003	0.0009	0.0122	0.0008	0.0008	0.0006	0.0010	0.0106	0.0006	0.0006	0.0083	0.0075	7.226e-05	0	6.544e-05	0	0.0077	0	0	0.0003	0.0005	0.0106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	71.5	1	chr7	135010174	.	G	A	71.5	.	AC=2;AF=0.059;AN=34;DP=42;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2305;MLEAC=2;MLEAF=0.059;MQ=60.00;QD=23.83;SOR=1.179	GT:AD:DP:GQ:PL	./.	16	1	0	4
chr7	135034622	135034622	C	A	exonic	AGBL3	.	nonsynonymous SNV	AGBL3:NM_178563:exon7:c.C1031A:p.T344N,	.	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	0.007	B	0.032	B	0.001	D	1.000	N	-1.43	N	1.62	T	-1.056	T	0.015	T	0.029	1.451	10.80	5.72	2.695	0.010	12.703	0.127	0.00221679320966	.	0.00199681	0.0019	0.0014	0	0	0	0.0043	0.0041	0	0.0012548	194	154602	rs141725502	0.0064	0.0061	0.0066	0.0061	0.0079	0.0063	0.0062	0.0078	0.0077	0.0011	0.0017	0	0	0.0009	0	0.0079	0.0043	0	0.0039	0.0039	0.0044	0.0033	0.0070	0.0036	0.0035	0.0065	0.0063	0.0015	0.0044	0.0019	0	0	0.0007	0	0.0070	0.0057	0	0.454	0.08891	T	0.815	0.03886	T	0.007	0.14184	B	0.032	0.22131	B	0.000989	0.40743	D	0.281106	0.846092	0.28563	N	-1.345	0.00668	N	1.62	0.28189	T	1.92	0.00446	N	0.102	0.08506	-1.0558	0.12829	T	0.015	0.06282	T	10	0.0032802224	0.00056	T	0.002217	0.04206	T	0.127	0.34888	.	.	0.0138822411134	0.00435	0.6402089473550704	0.63955	.	.	0.439514398575	0.30510	T	.	.	.	-0.689616	0.00042	T	-0.756965	0.03222	T	0.0182371363432093	0.00543	T	0.650635	0.26150	T	.	.	.	.	.	.	.	.	-5.674	0.43461	T	.	.	0.085	0.10062	B	.;.	.;.	1.757777	0.22356	15.59	0.96497632933496169	0.30030	0.29286	0.23781	N	AEFI	0.110890	0.21974	N	-0.727082617932332	0.15263	0.7676891	-0.455869927771581	0.23382	1.274846	0.997769344759177	0.36002	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.72	5.72	0.89380	1.060000	0.30139	1.674000	0.27972	0.596000	0.33519	0.060000	0.21767	0.392000	0.24668	0.993000	0.69303	0.2701:0.7299:0.0:0.0	12.703	0.56414	803	0.44167	.;Peptidase M14, carboxypeptidase A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1969.98	33	chr7	135034622	.	C	A	1969.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.592;DP=865;ExcessHet=0.0000;FS=3.527;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.26;ReadPosRankSum=0.612;SOR=0.567	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1270	20	0	1	0
chr7	135034670	135034670	C	T	exonic	AGBL3	.	nonsynonymous SNV	AGBL3:NM_178563:exon7:c.C1079T:p.T360I,	.	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.839	P	0.602	P	0.000	D	1.000	D	1.855	L	1.49	T	-1.028	T	0.094	T	0.729	4.085	21.0	5.39	2.522	3.012	18.780	0.168	.	0.0074	0.00359425	0.0026	0.0014	0.0024	0	0	0.0057	0.0041	0.0003	0.0018499	286	154602	rs17804854	0.0086	0.0082	0.0089	0.0082	0.0105	0.0084	0.0084	0.0103	0.0103	0.0015	0.0047	0	0	0.0015	0	0.0105	0.0061	0.0003	0.0055	0.0055	0.0061	0.0048	0.0097	0.0052	0.0050	0.0091	0.0088	0.0020	0.0044	0.0039	0	0	0.0009	0.0034	0.0097	0.0080	0	0.025	0.78490	D	0.002	0.79402	D	0.839	0.46454	P	0.602	0.50862	P	0.000000	0.84330	D	0.000000	0.999942	0.51968	D	2.05	0.56469	M	1.49	0.31470	T	-4.71	0.79915	D	0.747	0.74644	-1.0284	0.20973	T	0.094	0.35604	T	10	0.013388097	0.00284	T	.	.	.	0.168	0.42943	.	.	0.104622674875	0.10061	0.8537301862700418	0.85335	.	.	0.69456756115	0.66361	T	.	.	.	-0.295389	0.09102	T	-0.186694	0.55899	T	0.0557070941356545	0.06474	T	0.947905	0.79907	D	.	.	.	.	.	.	.	.	-11.972	0.84715	D	.	.	0.982	0.91596	P	.;.	.;.	4.348508	0.66770	25.0	0.99889950105427738	0.96436	0.94656	0.61882	D	AEFI	0.573282	0.57653	D	0.47405635232449	0.65581	4.840403	0.508919874651315	0.68587	5.240948	0.999999999799904	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.39	5.39	0.77615	3.049000	0.49560	3.924000	0.40490	0.596000	0.33519	0.993000	0.37899	0.999000	0.35428	0.994000	0.71098	0.0:1.0:0.0:0.0	18.780	0.91895	803	0.44167	.;Peptidase M14, carboxypeptidase A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1967.98	33	chr7	135034670	.	C	T	1967.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.450e-01;DP=842;ExcessHet=0.0000;FS=0.601;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=-1.870e-01;SOR=0.706	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1270	20	0	1	0
chr7	135737182	135737182	C	T	exonic	FAM180A	.	nonsynonymous SNV	FAM180A:NM_001369697:exon2:c.G94A:p.A32T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.998	D	0.000	D	1.000	D	1.87	L	1.29	T	-0.805	T	0.202	T	0.64	4.652	25.6	5.15	2.574	4.258	16.483	0.105	0.0295373984	7.7e-05	.	6.61e-05	0.0001	0	0	0	8.252e-05	0	8.63e-05	4.53e-05	7	154602	rs138173146	2.89e-05	3.078e-05	2.737e-05	3.044e-05	3.544e-05	2.164e-05	1.919e-05	2.207e-05	1.947e-05	3.033e-05	0	0	0	1.88e-05	0	3.066e-05	5.003e-05	3.544e-05	5.259e-05	5.254e-05	5.141e-05	5.383e-05	7.245e-05	2.558e-05	1.831e-05	1.972e-05	1.124e-05	7.245e-05	0	6.548e-05	0	0	0	0	5.88e-05	0	0	0.07	0.35349	T	0.078	0.42261	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.051589	0.999987	0.54805	D	2.7	0.79018	M	1.29	0.35775	T	-2.71	0.57762	D	0.703	0.70702	-0.8046	0.54873	T	0.202	0.55891	T	10	0.73601365	0.74625	D	0.029537	0.52028	D	0.105	0.29889	.	.	0.296329037015	0.29243	0.5762926326094846	0.57558	0.506681808825	0.48864	0.433946251869	0.29749	T	0.070901	0.34076	T	-0.1437	0.29302	T	-0.260175	0.48807	T	0.712120771408081	0.41304	D	0.716728	0.32905	T	0.18358426	0.39633	0.2626576	0.52060	0.18358426	0.39633	0.2626576	0.52059	-3.608	0.17973	T	.	.	0.314	0.54064	B	.;.	.;.	5.087805	0.84947	28.5	0.99923010679399249	0.98852	0.93229	0.57662	D	AEFDBHCI	0.703893	0.65978	D	0.652444052274339	0.76529	6.503036	0.629012102842566	0.77057	6.606517	0.999999998883097	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	5.15	5.15	0.70287	4.586000	0.60695	4.830000	0.45191	-0.173000	0.11020	1.000000	0.71638	1.000000	0.68203	0.107000	0.18608	0.0:1.0:0.0:0.0	16.483	0.84016	894	0.26265	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1583.98	36	chr7	135737182	.	C	T	1583.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.17;DP=884;ExcessHet=0.0000;FS=3.429;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.65;ReadPosRankSum=1.34;SOR=0.451	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1152	20	0	1	0
chr7	135927309	135927309	G	C	exonic	LUZP6	.	nonsynonymous SNV	LUZP6:NM_001128619:exon4:c.C142G:p.P48A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0044	0.00539137	0.0023	0.0196	0	0	0	0	0	0.0001	0.0005627	87	154602	rs78834486	0.0006	0.0005	0.0006	0.0005	0.0211	0.0005	0.0005	0.0198	0.0193	0.0211	0.0009	0	0	0	0.0014	5.563e-06	0.0013	7.612e-05	0.0055	0.0055	0.0060	0.0051	0.0196	0.0052	0.0051	0.0185	0.0181	0.0196	0	0.0011	0	0	0	0.0034	2.94e-05	0.0038	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999794	0.20333	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0038113296	0.00072	T	.	.	.	.	.	.	.	0.104622674875	0.10061	0.001480441288943487	0.00137	.	.	.	.	.	.	.	.	-0.580524	0.00191	T	-0.591064	0.13573	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.15921	B	.	.	0.089284	0.04932	1.507	0.556956882490938	0.05396	0.06076	0.12049	N	AEFBCI	0.074878	0.15022	N	.	.	.	.	.	.	0.152158313057458	0.17458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.65	-2.54	0.05941	-0.165000	0.09957	3.934000	0.40555	-0.684000	0.04190	0.000000	0.06391	0.957000	0.29195	0.209000	0.22154	0.2701:0.2734:0.3169:0.1396	1.093	0.01563	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	831.98	37	chr7	135927309	.	G	C	831.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=836;ExcessHet=0.0000;FS=1.047;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=-1.969e+00;SOR=0.454	GT:AD:DP:GQ:PL	0/0:59,0:59:99:0,120,1800	20	0	1	0
chr7	138088720	138088720	G	C	exonic	AKR1D1	.	nonsynonymous SNV	AKR1D1:NM_001190906:exon2:c.G213C:p.K71N	Bile acid synthesis defect, congenital, 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.973	D	0.000	D	1.000	D	2.51	M	0.7	T	-0.517	T	0.273	T	0.357	2.227	13.40	3.39	1.420	1.990	9.910	0.242	0.0264429355488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.63226	D	0.025	0.60972	D	0.994	0.66517	D	0.916	0.65201	D	0.000001	0.84330	D	0.052313	0.999886	0.50402	D	1.915	0.51223	L	0.7	0.51474	T	-4.62	0.79143	D	0.667	0.70702	-0.5171	0.68023	T	0.273	0.64484	T	10	0.77445877	0.77345	D	0.026443	0.49346	D	0.242	0.54781	0.665	0.80300	0.582449840715	0.57917	0.8446041355022419	0.84421	0.587943224786	0.54355	0.552428007126	0.46201	T	0.219754	0.58285	T	-0.0937968	0.37450	T	-0.372509	0.36596	T	0.990602850914001	0.80829	D	0.851615	0.54988	D	0.9208902	0.93334	0.6810947	0.81260	0.9208902	0.93335	0.6810947	0.81261	-10.636	0.80834	D	.	.	0.850	0.79770	P	.;.;.	.;.;.	4.218924	0.63804	24.6	0.99812182196689869	0.89620	0.92299	0.55392	D	AEFBI	0.864750	0.78363	D	0.406608807262468	0.61784	4.384378	0.284563858790152	0.54636	3.628198	0.999176147882071	0.38651	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.21	3.39	0.37919	1.243000	0.32370	4.129000	0.42019	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1697:0.0:0.8303:0.0	9.910	0.40568	929	0.16858	.;.;NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1385.98	33	chr7	138088720	.	G	C	1385.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.400;DP=835;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=-2.037e+00;SOR=0.643	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,103,1429	20	0	1	0
chr7	138584866	138584866	A	G	exonic	TRIM24	.	nonsynonymous SNV	TRIM24:NM_003852:exon19:c.A2966G:p.K989R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.143	B	0.062	B	0.003	N	1.000	N	1.245	L	-1.0	T	-0.929	T	0.243	T	0.079	1.151	9.686	1.07	0.346	1.940	5.660	0.058	0.0168538382373	0.0006	0.000599042	0.0002	0.0017	8.642e-05	0	0	1.504e-05	0	0	0.0001488	23	154602	rs145746225	5.953e-05	5.951e-05	6.127e-05	5.777e-05	0.0021	4.883e-05	4.562e-05	0.0017	0.0016	0.0021	0.0001	0	0	0	0.0003	4.497e-06	6.625e-05	1.16e-05	0.0005	0.0005	0.0005	0.0005	0.0016	0.0004	0.0004	0.0013	0.0012	0.0016	0	0.0005	0	0	0	0.0034	0	0	0	0.044	0.41096	D	0.37	0.17857	T	0.009	0.27649	B	0.01	0.26930	B	0.002559	0.36353	N	0.298590	1	0.08975	N	1.39	0.34934	L	-1.01	0.76168	T	-0.77	0.21429	N	0.052	0.09349	-0.9294	0.44227	T	0.243	0.61154	T	10	0.0082656145	0.00187	T	0.016854	0.38297	T	0.058	0.16647	.	.	0.311889312631	0.30795	0.14512572995778103	0.14435	0.499576287038	0.48390	0.380427718163	0.22317	T	0.137272	0.47012	T	-0.458261	0.01008	T	-0.436584	0.29190	T	0.00815538675516813	0.00097	T	0.605339	0.22755	T	0.03665106	0.04550	0.038885795	0.03856	0.03665106	0.04550	0.038885795	0.03856	-3.075	0.11011	T	.	.	0.075	0.06479	B	.;.	.;.	2.551977	0.33031	19.22	0.97867188184723253	0.36506	0.86550	0.45853	D	AEDBI	0.181728	0.30905	N	-0.581046695761264	0.19521	1.022303	-0.472581952715112	0.22912	1.246871	0.476757403338142	0.20752	0.732398	0.92422	0	0.743671	0.97443	0	0.702456	0.68683	0	0.727631	0.95156	0	.	.	5.3	1.07	0.19399	1.945000	0.39900	3.543000	0.39013	-0.054000	0.16847	0.998000	0.41325	1.000000	0.68203	0.929000	0.46594	0.7054:0.0:0.1582:0.1363	5.660	0.16938	900	0.24599	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1129.98	35	chr7	138584866	.	A	G	1129.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.170e+00;DP=778;ExcessHet=0.0000;FS=0.764;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=-4.700e-01;SOR=0.563	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1047	20	0	1	0
chr7	138627446	138627446	A	C	exonic	SVOPL	.	nonsynonymous SNV	SVOPL:NM_174959:exon8:c.T629G:p.I210R	.	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.984	D	0.000	D	1.000	D	2.25	M	0.31	T	-0.207	T	0.392	T	0.879	3.918	19.93	5.81	2.225	6.414	16.171	0.548	0.0616550646192	.	.	0.0002	0	0	0	0	0	0	0.0011	0.0001164	18	154602	rs773196860	0.0001	0.0001	5.176e-05	0.0002	0.0016	9.271e-05	8.735e-05	0.0013	0.0013	0	0	0	0	0	0.0003	1.44e-05	6.627e-05	0.0016	8.535e-05	8.531e-05	5.139e-05	0.0001	0.0019	4.953e-05	3.96e-05	0.0010	0.0007	0	0	6.545e-05	0	0.0002	0	0	2.94e-05	0	0.0019	0.002	0.78490	D	0.004	0.74150	D	0.992	0.77913	D	0.877	0.76113	P	0.000007	0.62929	D	0.145042	1	0.81001	D	2.58	0.75369	M	0.31	0.58613	T	-5.4	0.85617	D	0.789	0.78546	-0.2069	0.77494	T	0.392	0.74546	T	10	0.6112453	0.67456	D	0.061655	0.68401	D	0.548	0.81252	0.849	0.95143	0.785919398433	0.78393	0.9753046930886731	0.97520	0.249200713937	0.27491	0.751487135887	0.74665	T	0.285735	0.65852	T	-0.0198592	0.48875	T	0.163319	0.81009	D	0.284394315176869	0.24356	T	0.837516	0.51030	T	0.9341078	0.94649	0.94325274	0.97978	0.9341078	0.94649	0.94325274	0.97979	-14.592	0.95175	D	.	.	0.964	0.88872	P	.;.;.;.	.;.;.;.	5.076866	0.84710	28.4	0.99068887966115082	0.51668	0.96846	0.71256	D	AEBIJ	0.796144	0.72336	D	0.759471516088397	0.83520	8.038996	0.747260082829269	0.85951	8.736555	0.99623381125844	0.34611	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.81	5.81	0.92413	6.424000	0.73282	11.176000	0.88137	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	1.0:0.0:0.0:0.0	16.171	0.81627	910	0.22284	.;Major facilitator superfamily domain|Major facilitator superfamily domain;.;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1161.98	45	chr7	138627446	.	A	C	1161.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.674;DP=873;ExcessHet=0.0000;FS=1.640;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=-1.100e-02;SOR=0.509	GT:AD:DP:GQ:PL	0/1:47,50:97:99:1176,0,1065	20	0	1	0
chr7	138630077	138630077	G	A	exonic	SVOPL	.	nonsynonymous SNV	SVOPL:NM_174959:exon6:c.C379T:p.R127W	.	.	431	1089	2	0	0	2	0.000917431	.	.	2441014	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.19	T	1.0	D	0.999	D	0.000	D	0.997	D	2.105	M	0.05	T	-0.373	T	0.385	T	0.859	3.013	16.05	3.57	0.795	1.932	13.905	0.454	0.0618871387448	7.7e-05	0.000399361	6.591e-05	0	0	0	0	7.494e-05	0.0011	0.0001	0.0001035	16	154602	rs149009334	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0001	0.0002	0.0002	5.975e-05	2.236e-05	0	5.04e-05	0	0.0005	0.0002	8.28e-05	0.0003	9.196e-05	9.188e-05	0.0001	8.06e-05	0.0002	5.526e-05	4.363e-05	9.049e-05	7.013e-05	0	0	6.541e-05	0	0.0002	0	0	0.0002	0	0.0002	0.121	0.27783	T	0.125	0.43344	T	1.0	0.90584	D	0.992	0.92359	D	0.000002	0.62929	D	0.098369	0.997153	0.43670	D	2.8	0.81625	M	0.05	0.61923	T	-5.11	0.84457	D	0.801	0.81162	-0.3734	0.72857	T	0.385	0.74099	T	10	0.6363182	0.68802	D	0.061887	0.68475	D	0.454	0.75347	.	.	0.52851136469	0.52499	0.9151432436839908	0.91489	0.245332560828	0.27063	0.588881611824	0.51336	T	0.361785	0.72781	T	0.0235253	0.54855	T	0.0922083	0.76392	D	0.917529881000519	0.57540	D	0.949805	0.80758	D	0.38145834	0.59421	0.3419955	0.59932	0.38145834	0.59422	0.3419955	0.59931	-8.097	0.61730	D	.	.	0.340	0.55896	B	.;.;.;.	.;.;.;.	4.816265	0.78400	26.9	0.9982547677539011	0.90764	0.83959	0.43048	D	AEFGBHI	0.556145	0.56630	D	0.442735812739823	0.63792	4.619888	0.386706598515183	0.60745	4.265583	0.993112152133167	0.33090	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.43	3.57	0.40014	1.957000	0.40017	1.993000	0.30087	0.671000	0.69459	1.000000	0.71638	0.987000	0.30940	0.991000	0.66497	0.0:0.0:0.5394:0.4606	13.905	0.63330	908	0.22609	.;Major facilitator superfamily domain;.;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	866.98	44	chr7	138630077	.	G	A	866.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=821;ExcessHet=0.0000;FS=6.747;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.22;ReadPosRankSum=0.914;SOR=0.668	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr7	138656485	138656485	G	A	exonic	SVOPL	.	nonsynonymous SNV	SVOPL:NM_174959:exon3:c.C41T:p.P14L	.	.	438	1082	2	0	0	2	0.000923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.285	M	-0.25	T	0.790	D	0.784	D	0.938	4.411	23.4	5.07	2.513	6.982	17.586	0.890	0.122216114828	0.0002	.	0.0003	0	0	0	0	0.0005	0.0011	0.0001	0.0003169	49	154602	rs143732886	0.0004	0.0004	0.0003	0.0004	0.0014	0.0003	0.0003	0.0007	0.0005	0	6.708e-05	0.0009	0	0	0.0014	0.0004	0.0006	6.957e-05	0.0003	0.0003	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	4.821e-05	0	6.546e-05	0.0014	0	0	0.0068	0.0004	0.0014	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.048330	1	0.81001	D	3.305	0.90531	M	-1.75	0.83495	D	-8.35	0.98277	D	0.979	0.99100	0.790	0.94293	D	0.784	0.92684	D	10	0.9257494	0.91923	D	0.122216	0.80314	D	0.890	0.96836	.	.	0.921008591492	0.92020	0.9466730599153197	0.94650	0.246328691836	0.27172	0.83469247818	0.87282	D	0.555284	0.85015	D	0.187612	0.72742	D	0.398157	0.92052	D	0.951984107494354	0.63686	D	0.941306	0.78096	D	0.87688994	0.89414	0.7629602	0.85996	0.87688994	0.89415	0.7629602	0.85997	-9.004	0.85416	D	.	.	0.930	0.86040	P	.;.;.	.;.;.	5.183980	0.86922	29.1	0.99848150294638971	0.92750	0.95227	0.63909	D	AEFBI	0.803149	0.72838	D	0.912503721556072	0.92358	11.37795	0.837181810754407	0.92244	11.31668	0.999844214541012	0.43971	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.07	5.07	0.68106	7.486000	0.80232	11.621000	0.93620	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	17.586	0.87880	917	0.20147	.;.;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	612.98	34	chr7	138656485	.	G	A	612.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.790e-01;DP=751;ExcessHet=0.0000;FS=3.933;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.02;ReadPosRankSum=-1.546e+00;SOR=0.590	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1173	20	0	1	0
chr7	138706692	138706692	C	A	exonic	ATP6V0A4	.	nonsynonymous SNV	ATP6V0A4:NM_130840:exon21:c.G2455T:p.V819F	Renal tubular acidosis, distal, autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.794	P	0.378	B	0.205	N	1.000	N	1.905	M	-2.08	D	-0.419	T	0.589	D	0.337	1.871	12.22	0.629	0.235	-0.254	6.809	0.385	0.115075267864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.04	0.50809	D	0.794	0.44757	P	0.378	0.43788	B	0.204704	0.03345	N	1.671070	1	0.08975	N	2.015	0.55033	M	-2.08	0.86010	D	-1.2	0.30555	N	0.288	0.37613	-0.4194	0.71412	T	0.589	0.85294	D	10	0.44313166	0.58228	T	0.115075	0.79414	D	0.385	0.70194	0.354	0.35408	0.905033096438	0.90408	0.38904764290429683	0.38819	0.471533087748	0.46419	0.359104156494	0.19255	T	0.281359	0.65408	T	-0.00887306	0.50424	T	-0.250522	0.49765	T	0.405283808708191	0.29141	T	0.945705	0.79334	D	0.1258636	0.29494	0.08885517	0.20743	0.1258636	0.29494	0.08885517	0.20743	-5.12	0.38117	T	0.2866838344979816	0.38275	0.104	0.27968	B	.;.;.;.;.	.;.;.;.;.	1.361082	0.17698	13.32	0.99165988276189476	0.54241	0.09120	0.14939	N	AEFDGBHCI	0.143455	0.26616	N	-0.362101079756182	0.26829	1.467312	-0.507245727525276	0.21956	1.190238	0.999999719252991	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	4.87	0.629	0.16860	-0.240000	0.08970	-1.632000	0.05022	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.658000	0.32913	0.1289:0.6348:0.0:0.2363	6.809	0.22976	889	0.27310	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2322.98	36	chr7	138706692	.	C	A	2322.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=882;ExcessHet=0.0000;FS=1.200;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.75;ReadPosRankSum=0.565;SOR=0.820	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1273	20	0	1	0
chr7	138739614	138739614	T	C	exonic	ATP6V0A4	.	nonsynonymous SNV	ATP6V0A4:NM_130840:exon14:c.A1498G:p.S500G	Renal tubular acidosis, distal, autosomal recessive	YES	1	1494	26	1	0	28	0.00928382	.	.	309838	Distal_Renal_Tubular_Acidosis,_Recessive|not_provided|Autosomal_recessive_distal_renal_tubular_acidosis|not_specified	MedGen:CN239177|MedGen:C3661900|MONDO:MONDO:0018440,MedGen:C1864498,Orphanet:402041|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.0	B	0.002	B	0.102	N	1.000	N	-1.37	N	-2.04	D	-0.845	T	0.216	T	0.054	1.732	11.75	5.25	1.965	5.213	7.847	0.351	.	0.0002	0.00279553	0.0027	0	0.0008	0	0	0.0005	0.0066	0.0172	0.0023156	358	154602	rs142818468	0.0013	0.0013	0.0008	0.0018	0.0163	0.0013	0.0012	0.0156	0.0153	0.0002	0.0006	3.826e-05	0	1.873e-05	0.0040	0.0003	0.0012	0.0163	0.0008	0.0008	0.0007	0.0010	0.0118	0.0007	0.0007	0.0094	0.0085	7.219e-05	0	0.0012	0	0	0	0	0.0007	0.0014	0.0118	0.038	0.42783	D	0.126	0.35205	T	0.0	0.02946	B	0.002	0.06944	B	0.101629	0.19830	N	0.526300	1	0.08975	N	0.285	0.10073	N	-2.04	0.85703	D	-1.13	0.29114	N	0.212	0.23632	-0.8450	0.52311	T	0.216	0.57732	T	10	0.0043908656	0.00089	T	.	.	.	0.351	0.67234	.	.	0.759034660513	0.75684	0.39776035607268057	0.39691	0.177074262078	0.19922	0.288669228554	0.08729	T	0.158114	0.50101	T	-0.47229	0.00823	T	-0.438214	0.29010	T	0.0199759674891632	0.00698	T	0.169783	0.01594	T	0.13728155	0.31792	0.07137801	0.15278	0.104006514	0.24584	0.06865264	0.14364	-4.465	0.30428	T	0.21579293709666367	0.29017	0.089	0.13550	B	.;.;.;.;.;.	.;.;.;.;.;.	2.459375	0.31677	18.81	0.96525507524474463	0.30133	0.75042	0.36726	D	AEFBHCI	0.422363	0.48840	N	-0.650970891474921	0.17432	0.8969671	-0.49214327649808	0.22369	1.214642	0.999778323642658	0.42865	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.25	5.25	0.73169	5.200000	0.64994	5.035000	0.46860	0.665000	0.62972	0.724000	0.28861	0.929000	0.28499	0.017000	0.10941	0.0:0.1561:0.0:0.8439	7.847	0.28594	895	0.25842	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	723.98	36	chr7	138739614	.	T	C	723.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.474e+00;DP=767;ExcessHet=0.0000;FS=2.070;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=-1.233e+00;SOR=0.976	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1148	20	0	1	0
chr7	139035753	139035753	G	A	exonic	ZC3HAV1L	.	nonsynonymous SNV	ZC3HAV1L:NM_080660:exon1:c.C265T:p.R89C,	.	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.981	D	0.002	U	1.000	D	2.46	M	1.11	T	-0.573	T	0.249	T	0.771	4.590	25.0	3.8	0.915	6.499	12.377	0.473	0.783397648552	.	.	0.0001	0	0	0	0	0.0005	0	0	6.5e-06	1	154602	rs751509427	3.347e-05	5.404e-05	3.375e-05	3.319e-05	0.0002	2.552e-05	2.278e-05	2.389e-05	2.114e-05	0	0	0.0003	0	0	0.0002	3.291e-05	5.355e-05	0	6.57e-06	6.567e-06	1.285e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.01	0.65728	D	1.0	0.90584	D	0.981	0.75168	D	0.002346	0.36727	U	0.000000	0.999571	0.47641	D	2.91	0.84121	M	1.11	0.38883	T	-6.38	0.91100	D	0.491	0.52475	-0.5725	0.65916	T	0.249	0.61820	T	10	0.7271104	0.74048	D	0.783398	0.98295	D	0.473	0.76619	0.716	0.85141	0.385249989106	0.38142	0.5116097945436021	0.51082	3.07987304828	0.99351	0.900111913681	0.96453	D	0.324979	0.69574	T	0.220795	0.75851	D	0.0793796	0.75536	D	0.824855923652649	0.48135	D	0.779722	0.41422	T	0.6773249	0.76825	0.50484854	0.71379	0.6773249	0.76826	0.50484854	0.71380	-10.513	0.76922	D	.	.	0.834	0.78933	P	.	.	5.850187	0.93816	33	0.99903648590952909	0.97502	0.71999	0.35259	D	AEFDGBHCI	0.555997	0.56621	D	0.563013910221245	0.70879	5.56667	0.469159901373946	0.65958	4.889815	0.999999999999939	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.47417	0.07244	0	0.372554	0.06265	0	.	.	4.71	3.8	0.42887	5.265000	0.65334	11.328000	0.92536	0.590000	0.31872	0.988000	0.36536	1.000000	0.68203	0.995000	0.73285	0.0:0.1715:0.8285:0.0	12.377	0.54615	443	0.79878	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	905.98	35	chr7	139035753	.	G	A	905.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=-1.678e+00;SOR=0.677	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1030	20	0	1	0
chr7	139055234	139055234	A	C	exonic	ZC3HAV1	.	nonsynonymous SNV	ZC3HAV1:NM_001363491:exon10:c.T2524G:p.F842V	.	.	423	1094	5	0	0	5	0.00227998	.	.	2340439	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.3	T	0.0	B	0.0	B	0.008	N	1.000	N	1.1	L	3.35	T	-0.989	T	0.012	T	0.095	0.047	4.260	-7.36	-2.574	-3.378	1.051	0.021	0.000885194959013	0.0002	.	0.0002	0	8.637e-05	0	0	5.995e-05	0.0011	0.0012	0.0001746	27	154602	rs141845165	9.584e-05	9.577e-05	5.448e-05	0.0001	0.0013	8.248e-05	7.788e-05	0.0011	0.0010	0	4.481e-05	0	0	0	0.0012	1.26e-05	8.284e-05	0.0013	8.532e-05	8.529e-05	7.708e-05	9.393e-05	0.0008	4.952e-05	3.958e-05	0.0003	0.0002	0	0	6.536e-05	0	0	0	0	0.0001	0.0005	0.0008	0.54	0.06824	T	0.645	0.07316	T	0.0	0.02946	B	0.0	0.01387	B	0.007986	0.01189	N	2.898740	1	0.08975	N	-0.255	0.03828	N	3.35	0.06214	T	0.22	0.04776	N	0.068	0.05929	-0.9888	0.32903	T	0.012	0.04747	T	10	0.008771509	0.00199	T	8.85E-4	0.00800	T	0.021	0.04004	.	.	0.0138822411134	0.00435	0.4679024591018867	0.46709	0.369081398384	0.38440	0.224033355713	0.01556	T	0.001456	0.06047	T	-0.682613	0.00046	T	-0.793836	0.02061	T	0.0177867080545873	0.00507	T	0.19528	0.02139	T	0.024442323	0.01275	0.018382782	0.00054	0.024442323	0.01275	0.018382782	0.00054	-3.152	0.11903	T	.	.	0.053	0.00405	B	.;.	.;.	-1.176241	0.00555	0.013	0.43790276752464047	0.03321	0.00601	0.02681	N	AEFBI	0.016017	0.00336	N	-1.6432200875801	0.01064	0.04616801	-1.79691948853203	0.00769	0.03429759	0.99998933332426	0.51787	0.744818	0.98587	0	0.724815	0.89359	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	3.68	-7.36	0.01270	-3.625000	0.00460	-2.737000	0.03414	-0.164000	0.11507	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.3774:0.1662:0.3213:0.1351	1.051	0.01481	443	0.79878	Poly(ADP-ribose) polymerase, catalytic domain;Poly(ADP-ribose) polymerase, catalytic domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	556.98	36	chr7	139055234	.	A	C	556.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.490e+00;DP=728;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=0.784;SOR=0.693	GT:AD:DP:GQ:PL	0/1:24,24:48:99:571,0,687	20	0	1	0
chr7	139142265	139142265	G	A	exonic	TTC26	.	nonsynonymous SNV	TTC26:NM_001144923:exon4:c.G266A:p.S89N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.948	P	0.487	P	0.000	N	1.000	D	1.88	L	1.57	T	-0.418	T	0.380	T	0.198	3.231	16.83	5.27	2.604	6.705	19.244	0.106	0.0347811345149	7.7e-05	0.000199681	8.252e-06	0	0	0	0	1.501e-05	0	0	1.29e-05	2	154602	rs371222020	4.31e-05	4.309e-05	4.356e-05	4.263e-05	0.0090	3.443e-05	3.129e-05	0.0071	0.0064	0	0	0	0	0	0.0090	7.195e-06	4.968e-05	0	3.944e-05	3.938e-05	6.43e-05	1.344e-05	0.0001	1.716e-05	1.13e-05	4.733e-05	3.049e-05	0.0001	0	0	0	0	0	0	1.471e-05	0	0	0.167	0.29554	T	0.268	0.25907	T	0.012	0.53620	B	0.003	0.47260	B	0.000227	0.47286	N	0.183015	0.999967	0.52935	D	.	.	.	-0.99	0.75911	T	-2.09	0.50175	N	0.514	0.66187	-0.4184	0.71444	T	0.380	0.73677	T	10	0.27614605	0.45175	T	0.034781	0.55905	D	0.106	0.30130	.	.	0.787608236138	0.78563	0.39581737327818345	0.39496	0.159144939156	0.17961	0.698339402676	0.66904	T	0.030348	0.29209	T	-0.0945499	0.37324	T	-0.309945	0.43664	T	0.778334200382233	0.44947	D	0.932107	0.86318	D	0.48992112	0.66498	0.49240017	0.70638	0.48992112	0.66499	0.49240017	0.70639	-6.77	0.62189	T	.	.	0.184	0.46562	B	.;.;.;.;.;.	.;.;.;.;.;.	3.371724	0.46592	22.3	0.99321057421738146	0.59393	0.98314	0.81539	D	AEFBI	0.802662	0.72802	D	0.270832376942749	0.54676	3.632662	0.385225831110604	0.60654	4.255319	0.999136076024054	0.38535	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.27	5.27	0.73797	6.688000	0.74387	8.595000	0.77703	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.903000	0.43903	0.0:0.0:1.0:0.0	19.244	0.93883	873	0.30802	.;Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	644.98	34	chr7	139142265	.	G	A	644.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.640e-01;DP=756;ExcessHet=0.0000;FS=5.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.08;ReadPosRankSum=2.17;SOR=0.772	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1152	20	0	1	0
chr7	139284397	139284397	T	G	exonic	UBN2	.	nonsynonymous SNV	UBN2:NM_173569:exon15:c.T3492G:p.S1164R,	.	.	423	1091	8	0	0	8	0.00365297	.	.	2334601	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.996	D	0.946	D	0.000	D	0.821	N	0.69	N	1.29	T	-1.008	T	0.111	T	0.616	3.015	16.06	3.28	1.075	2.216	9.553	0.203	0.0116079687896	.	.	0.0003	0	8.649e-05	0	0	0.0002	0.0022	0.0014	0.0002587	40	154602	rs754304809	0.0002	0.0002	0.0001	0.0003	0.0019	0.0002	0.0002	0.0013	0.0012	0	0.0001	0	0	0	0.0019	9.802e-05	0.0004	0.0015	6.574e-05	6.564e-05	5.144e-05	8.07e-05	0.0010	3.518e-05	2.617e-05	0.0004	0.0003	4.822e-05	0	0	0	0	0	0.0034	1.471e-05	0.0005	0.0010	0.002	0.72154	D	0.087	0.40747	T	0.996	0.68779	D	0.946	0.68276	D	0.000054	0.53742	D	0.171825	0.821154	0.28880	N	0.805	0.20218	L	1.29	0.35775	T	-0.76	0.21215	N	0.55	0.57604	-1.0084	0.27416	T	0.111	0.39770	T	10	0.07338768	0.11080	T	0.011608	0.29407	T	0.203	0.48915	0.404	0.43573	0.043077524339	0.03247	0.7046723164447111	0.70409	0.414768115715	0.42146	0.465029537678	0.33999	T	0.049373	0.28287	T	-0.330925	0.06041	T	-0.283505	0.46444	T	0.0983813971646895	0.12178	T	0.873813	0.58316	D	0.20156772	0.42172	0.2579855	0.51525	0.20156772	0.42172	0.2579855	0.51524	-6.521	0.50449	T	.	.	0.737	0.74497	P	.	.	3.813092	0.55007	23.6	0.99797193634961168	0.88194	0.89387	0.49821	D	AEFDBHCI	0.257980	0.37661	N	0.297922128391923	0.56044	3.768569	0.309042408288059	0.56069	3.769958	0.999989215113462	0.51787	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.64	3.28	0.36691	2.200000	0.42358	4.219000	0.42581	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1421:0.0:0.8579	9.553	0.38486	814	0.42100	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2294.98	40	chr7	139284397	.	T	G	2294.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.63;DP=849;ExcessHet=0.0000;FS=1.336;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.51;ReadPosRankSum=-9.260e-01;SOR=0.724	GT:AD:DP:GQ:PL	0/1:66,73:139:99:2309,0,1607	20	0	1	0
chr7	139284548	139284548	T	A	exonic	UBN2	.	nonsynonymous SNV	UBN2:NM_173569:exon15:c.T3643A:p.S1215T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.924	P	0.878	P	0.000	D	1.000	D	1.7	L	1.28	T	-0.977	T	0.159	T	0.364	3.516	17.96	5.57	2.241	3.852	16.025	0.138	0.00898333495431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	6.84e-07	0	1.377e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.456	0.12740	T	0.924	0.51285	P	0.878	0.62312	P	0.000000	0.84330	D	0.000000	0.999547	0.47497	D	0.975	0.24501	L	1.28	0.35960	T	-0.11	0.08653	N	0.353	0.39457	-0.9772	0.35638	T	0.159	0.49346	T	10	0.25371718	0.42741	T	0.008983	0.23655	T	0.138	0.37187	0.305	0.27485	0.0675242888579	0.06100	0.44560170097614327	0.44478	0.418074075645	0.42406	0.604096889496	0.53483	T	0.008636	0.07919	T	-0.0967931	0.36955	T	-0.376813	0.36094	T	0.814672231674194	0.47382	D	0.843416	0.52040	T	0.18887281	0.40404	0.21215884	0.45674	0.18887281	0.40404	0.21215884	0.45673	-3.918	0.22572	T	.	.	0.091	0.13174	B	.	.	3.575158	0.50375	22.9	0.99172722420965664	0.54441	0.93994	0.59794	D	AEFBHCI	0.436463	0.49667	N	0.435979638693737	0.63411	4.574466	0.469428743641578	0.65972	4.892099	0.99999999842	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.57	5.57	0.84021	3.832000	0.55485	5.114000	0.47536	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.025	0.80337	814	0.42100	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1528.98	40	chr7	139284548	.	T	A	1528.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.581e+00;DP=819;ExcessHet=0.0000;FS=2.584;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.29;ReadPosRankSum=-1.740e-01;SOR=0.470	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr7	139345537	139345537	C	T	exonic	FMC1;FMC1-LUC7L2	.	nonsynonymous SNV	FMC1-LUC7L2:NM_001244584:exon2:c.C175T:p.L59F	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.998	D	0.001	D	0.995	D	2.045	M	1.29	T	-0.594	T	0.269	T	0.372	3.858	19.60	5.52	2.585	2.494	12.753	0.095	0.0152475413268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.109	0.92824	T	1.0	0.90584	D	0.998	0.88582	D	0.000642	0.42656	D	0.161552	0.994787	0.42415	D	.	.	.	0.73	0.50721	T	-2.59	0.55821	D	0.351	0.46835	-0.5943	0.65048	T	0.269	0.64066	T	10	0.32474786	0.49794	T	0.015248	0.35873	T	0.095	0.27398	0.421	0.46365	0.606545613963	0.60339	0.6939623212929414	0.69337	1.15867681105	0.79411	.	.	.	0.05753	0.30593	T	-0.0631646	0.42413	T	-0.328508	0.41635	T	0.964047789573669	0.66839	D	0.817118	0.47377	T	0.19496208	0.41267	0.18920237	0.42253	0.19496208	0.41267	0.18920237	0.42252	-5.028	0.37143	T	.	.	0.412	0.60226	A	.;.	.;.	4.767781	0.77149	26.6	0.99893869531164947	0.96742	0.81075	0.40557	D	AEFBCI	0.690377	0.65073	D	0.60313048608797	0.73371	5.955438	0.60261702301756	0.75131	6.256398	0.998446765918108	0.36977	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	2.565000	0.45602	5.809000	0.49993	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9247:0.0:0.0753	12.753	0.56691	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	960.98	35	chr7	139345537	.	C	T	960.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.578;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=0.629;SOR=0.772	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1201	20	0	1	0
chr7	139417669	139417669	G	A	exonic	FMC1-LUC7L2;LUC7L2	.	nonsynonymous SNV	LUC7L2:NM_016019:exon9:c.G941A:p.R314H	.	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.006	B	0.002	B	0.000	N	0.981	D	0.935	L	3.29	T	-1.015	T	0.068	T	0.391	3.615	18.40	5.69	2.698	3.818	13.062	0.038	0.00318568916121	.	.	8.282e-06	0	0	0.0001	0	0	0	0	3.84e-05	1	26028	rs755882814	4.788e-06	4.788e-06	8.167e-06	1.375e-06	0.0002	1.99e-06	1.28e-06	2.004e-05	1.055e-05	2.987e-05	4.472e-05	0	7.557e-05	0	0.0002	0	0	0	1.314e-05	1.313e-05	0	2.691e-05	0.0001	2.18e-06	8.2e-07	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	0.143	0.36310	T	0.135	0.40110	T	0.005	0.12996	B	0.002	0.06944	B	0.000001	0.84330	N	0.100046	.	.	.	-0.265	0.03777	N	1.36	0.34452	T	-0.57	0.17210	N	0.361	0.43610	-1.0150	0.25336	T	0.068	0.27980	T	9	0.11088607	0.20743	T	0.003186	0.06966	T	0.038	0.09825	0.24	0.17218	0.174091166621	0.17034	0.3034430781038266	0.30257	0.489858730717	0.47738	.	.	.	0.016098	0.13370	T	-0.320591	0.06850	T	-0.406135	0.32672	T	0.366217711322863	0.27651	T	0.949105	0.81346	D	0.07023061	0.15451	0.07216691	0.15538	0.07023061	0.15450	0.07216691	0.15538	-6.244	0.48674	T	.	.	0.087	0.16187	B	.;.;.;.;.	.;.;.;.;.	4.310953	0.65896	24.9	0.9981621704363991	0.89973	0.90694	0.52085	D	AEFBHI	0.684208	0.64662	D	-0.017041965616679	0.41085	2.451204	0.195062736805097	0.49575	3.159111	0.999811362305973	0.43459	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.69	5.69	0.88346	3.902000	0.56023	9.899000	0.82334	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0732:0.0:0.9268:0.0	13.062	0.58424	802	0.44336	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1982.98	33	chr7	139417669	.	G	A	1982.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=833;ExcessHet=0.0000;FS=3.805;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=-1.370e-01;SOR=0.445	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1287	20	0	1	0
chr7	139626647	139626647	G	C	exonic	HIPK2	.	nonsynonymous SNV	HIPK2:NM_001113239:exon6:c.C1573G:p.P525A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.999	D	0.996	D	.	.	1.000	D	.	.	1.66	T	-0.735	T	0.220	T	0.905	3.484	17.82	5.53	2.591	6.707	19.447	0.506	0.0313631581858	.	.	8.298e-06	0	0	0	0	1.501e-05	0	0	1.29e-05	2	154602	rs543724948	9.578e-06	9.577e-06	6.807e-06	1.238e-05	0.0002	5.56e-06	4.35e-06	4.358e-05	2.767e-05	0	0.0001	0	0	0	0.0002	5.396e-06	3.313e-05	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0001	2.18e-06	8.2e-07	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	0.103	0.91255	T	0.23	0.32249	T	0.997	0.77913	D	0.923	0.84481	D	.	.	.	.	1	0.81001	D	.	.	.	1.66	0.27486	T	-5.33	0.95276	D	0.664	0.74098	-0.7352	0.58700	T	0.220	0.58345	T	8	0.79897934	0.79328	D	0.031363	0.53467	D	0.506	0.78724	0.758	0.88730	0.702362406023	0.69978	0.591109783705798	0.59040	0.467212021082	0.46105	0.829755365849	0.86524	D	0.316958	0.68845	T	0.0951279	0.63761	D	0.12457	0.78535	D	0.415501266967918	0.29523	T	0.843516	0.52087	T	0.2716379	0.50235	0.39558032	0.64222	0.2716379	0.50234	0.39558032	0.64222	-6.411	0.49595	T	.	.	0.101	0.17488	B	.;.;.	.;.;.	4.789299	0.77707	26.8	0.98646969280128249	0.44137	0.99002	0.89800	D	AEFBI	0.696323	0.65470	D	0.685778391532968	0.78699	6.925	0.697064811477921	0.82156	7.697696	0.999999999999998	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	6.872000	0.75336	9.998000	0.83025	0.659000	0.54702	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.447	0.94846	922	0.19044	Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1188.98	34	chr7	139626647	.	G	C	1188.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.36;DP=813;ExcessHet=0.0000;FS=0.735;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=-1.313e+00;SOR=0.842	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr7	139953397	139953397	C	A	exonic	TBXAS1	.	nonsynonymous SNV	TBXAS1:NM_001366537:exon5:c.C297A:p.D99E	Ghosal hematodiaphyseal syndrome, Autosomal recessive	.	1	1470	48	2	1	53	0.0173797	.	.	710823	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001682	26	154602	rs5768	0.0068	0.0068	0.0067	0.0069	0.0140	0.0067	0.0066	0.0116	0.0107	0.0009	0.0058	0.0243	0	0.0020	0.0140	0.0071	0.0078	0.0053	0.0048	0.0048	0.0047	0.0048	0.0065	0.0045	0.0044	0.0060	0.0058	0.0011	0.0022	0.0052	0.0265	0.0006	0.0020	0.0136	0.0065	0.0099	0.0035	.	.	.	0.185	0.28958	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.15046	.	.	.	.	.	.	.	0.0074077547	0.00168	T	.	.	.	.	.	.	.	.	.	0.18858199189916144	0.18776	.	.	.	.	.	0.028943	0.20850	T	.	.	.	.	.	.	.	.	.	0.424958	0.12501	T	.	.	.	.	.	.	.	.	-3.967	0.23308	T	.	.	0.193	0.44694	B	.;.;.;.;.;.	.;.;.;.;.;.	1.396628	0.18099	13.55	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.341000	0.07858	0.189000	0.15722	0.596000	0.33519	0.003000	0.16062	0.004000	0.18990	0.997000	0.79791	.	.	.	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	4514.68	34	chr7	139953397	.	C	A	4514.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.480e-01;DP=991;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=-9.940e-01;SOR=0.707	GT:AD:DP:GQ:PL	0/1:64,55:119:99:1314,0,1624	18	0	3	0
chr7	139961932	139961932	T	A	exonic	TBXAS1	.	nonsynonymous SNV	TBXAS1:NM_001366537:exon8:c.T650A:p.F217Y	Ghosal hematodiaphyseal syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	2.755	M	-0.78	T	0.377	D	0.622	D	0.838	5.229	33	5.83	2.225	7.287	16.194	0.797	0.118854549662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.65419	D	0.009	0.74150	D	0.999	0.77913	D	0.981	0.75168	D	0.000002	0.62929	D	0.137167	1	0.81001	D	.	.	.	-0.78	0.73631	T	-2.52	0.55821	D	0.805	0.80964	0.377	0.88754	D	0.622	0.86676	D	10	0.8634976	0.85581	D	0.118855	0.79901	D	0.797	0.93346	.	.	0.576080139486	0.57276	0.7824215664535177	0.78193	0.585516766391	0.54188	0.626340031624	0.56626	T	0.061885	0.31772	T	0.302104	0.83138	D	0.196175	0.82918	D	0.995323956012726	0.87221	D	0.841416	0.57956	T	.	.	.	.	.	.	.	.	-9.188	0.68899	D	.	.	0.438	0.61623	A	.;.;.;.;.;.	.;.;.;.;.;.	4.784527	0.77582	26.7	0.99667971621945795	0.78394	0.98633	0.84938	D	AEFDBCI	0.949883	0.96298	D	0.840472576154952	0.88558	9.624012	0.804743018025986	0.90121	10.26549	0.999999999889711	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.527494	0.11647	0	0.586402	0.36253	0	.	.	5.83	5.83	0.93059	7.324000	0.78389	6.135000	0.53971	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	16.194	0.81828	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2087.98	33	chr7	139961932	.	T	A	2087.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.036e+00;DP=797;ExcessHet=0.0000;FS=0.774;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.16;ReadPosRankSum=0.076;SOR=0.840	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1208	20	0	1	0
chr7	139961933	139961933	C	A	exonic	TBXAS1	.	nonsynonymous SNV	TBXAS1:NM_001366537:exon8:c.C651A:p.F217L	Ghosal hematodiaphyseal syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.735	P	0.741	P	0.000	D	1.000	D	1.66	L	-0.49	T	-0.394	T	0.380	T	0.902	2.883	15.61	3.05	0.819	1.024	11.018	0.512	0.0429648966683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.38863	T	0.402	0.18071	T	0.049	0.22227	B	0.101	0.30765	B	0.000002	0.62929	D	0.137167	0.999996	0.58761	D	.	.	.	-0.49	0.70365	T	-4.28	0.79915	D	0.762	0.77789	-0.3939	0.72219	T	0.380	0.73677	T	10	0.6742655	0.70896	D	0.042965	0.60739	D	0.512	0.79094	.	.	0.622533131713	0.61946	0.8524300904484298	0.85205	0.493595668508	0.47958	0.640218019485	0.58595	T	0.071754	0.34286	T	0.287879	0.81980	D	0.175742	0.81748	D	0.966466009616852	0.67591	D	0.937306	0.84069	D	.	.	.	.	.	.	.	.	-5.369	0.40621	T	.	.	0.936	0.85503	P	.;.;.;.;.;.	.;.;.;.;.;.	3.213186	0.43745	21.8	0.99270465576265221	0.57525	0.93630	0.58745	D	AEFDBCI	0.700094	0.65723	D	-0.0382280260162425	0.40130	2.377988	0.0473498609172435	0.41944	2.528518	0.993128772192707	0.33094	0.638212	0.43195	0	0.670034	0.63936	0	0.527494	0.11647	0	0.586402	0.36253	0	.	.	5.83	3.05	0.34272	1.089000	0.30501	0.842000	0.22053	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.992000	0.67800	0.0:0.729:0.0:0.271	11.018	0.46919	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2087.98	33	chr7	139961933	.	C	A	2087.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.22;DP=797;ExcessHet=0.0000;FS=0.774;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.16;ReadPosRankSum=0.052;SOR=0.840	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1208	20	0	1	0
chr7	140017804	140017804	T	C	exonic	TBXAS1	.	nonsynonymous SNV	TBXAS1:NM_001366537:exon11:c.T1315C:p.F439L	Ghosal hematodiaphyseal syndrome, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	2.415	M	-1.89	D	0.605	D	0.737	D	0.953	3.355	17.30	4.89	1.842	6.933	13.101	0.892	0.114832134165	.	0.000199681	4.127e-05	0	0	0	0	0	0	0.0003	3.88e-05	6	154602	rs571830700	1.573e-05	1.573e-05	8.168e-06	2.338e-05	0.0002	1.048e-05	8.75e-06	0.0002	0.0001	0	0	0	0	0	0	0	4.968e-05	0.0002	1.314e-05	1.312e-05	0	2.688e-05	0.0004	2.18e-06	8.2e-07	7.307e-05	3.035e-05	0	0	0	0	0	0	0	0	0	0.0004	0.004	0.78490	D	0.02	0.58613	D	0.771	0.43934	P	0.549	0.49194	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-1.89	0.84557	D	-5.29	0.84315	D	0.934	0.93959	0.605	0.91969	D	0.737	0.90994	D	10	0.88757837	0.88090	D	0.114832	0.79382	D	0.892	0.96910	.	.	0.905594530303	0.90465	0.88944489593546	0.88914	0.598658979422	0.55026	0.665957927704	0.62261	T	0.087833	0.38028	T	0.224389	0.76191	D	0.358842	0.90658	D	0.947826206684113	0.62764	D	0.755524	0.37862	T	.	.	.	.	.	.	.	.	-4.612	0.32322	T	.	.	0.973	0.89808	P	.;.;.;.;.	.;.;.;.;.	4.661117	0.74398	26.2	0.99711063825003965	0.81353	0.92750	0.56454	D	AEFDBCI	0.932810	0.92374	D	0.499561652491867	0.67064	5.032181	0.421879067722663	0.62929	4.517126	0.999999999999899	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.89	4.89	0.63387	7.033000	0.76234	7.875000	0.72177	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.936000	0.47498	0.0:0.0:0.0:1.0	13.101	0.58636	934	0.15400	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	921.98	78	chr7	140017804	.	T	C	921.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.830e-01;DP=774;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=0.025;SOR=0.619	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1414	20	0	1	0
chr7	140091845	140091845	G	A	exonic	KDM7A	.	nonsynonymous SNV	KDM7A:NM_030647:exon19:c.C2690T:p.P897L,	.	.	9	1452	60	1	0	62	0.0209036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.317	B	0.018	B	0.000	D	1.000	D	1.04	L	2.61	T	-1.084	T	0.021	T	0.569	3.255	16.92	5.8	2.732	6.155	18.224	0.095	.	0.0020	0.00559105	0.0042	0.0002	0.0011	0.0003	0.0006	0.0028	0.0033	0.0184	0.0039003	603	154602	rs192601953	0.0026	0.0026	0.0021	0.0031	0.0179	0.0026	0.0025	0.0171	0.0168	0.0003	0.0010	0.0001	0.0002	0.0007	0.0117	0.0017	0.0033	0.0179	0.0019	0.0020	0.0019	0.0020	0.0158	0.0018	0.0017	0.0129	0.0118	0.0002	0	0.0015	0	0.0006	0.0003	0.0204	0.0025	0.0024	0.0158	0.013	0.53900	D	0.166	0.30828	T	0.317	0.32920	B	0.018	0.18489	B	0.000021	0.55875	D	0.121838	1	0.81001	D	1.745	0.45235	L	2.61	0.13095	T	-1.37	0.33998	N	0.339	0.38027	-1.0844	0.06517	T	0.021	0.08917	T	10	0.005435258	0.00120	T	.	.	.	0.095	0.27398	.	.	0.082315109003	0.07666	0.30939651663886614	0.30852	0.304573988704	0.32764	0.685567378998	0.65068	T	0.02937	0.21062	T	-0.428501	0.01513	T	-0.374008	0.36421	T	0.0226783854346548	0.00986	T	0.89971	0.64861	D	0.13407205	0.31163	0.17044519	0.39155	0.13407205	0.31162	0.17044519	0.39154	-3.286	0.13558	T	.	.	0.153	0.33868	B	.	.	4.419976	0.68456	25.2	0.98970276715049565	0.49520	0.96906	0.71586	D	AEFGBI	0.669212	0.63672	D	0.187533030493372	0.50600	3.248455	0.371443162631876	0.59808	4.162137	0.999959655437087	0.48110	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.8	5.8	0.92081	5.765000	0.68486	8.665000	0.77987	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.224	0.89845	906	0.23090	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4491.11	35	chr7	140091845	.	G	A	4491.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.24;DP=1048;ExcessHet=0.1072;FS=3.342;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=1.92;SOR=0.707	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1256	19	0	2	0
chr7	140176891	140176891	G	C	exonic	KDM7A	.	nonsynonymous SNV	KDM7A:NM_030647:exon1:c.C47G:p.A16G,	.	.	10	1506	5	1	0	7	0.00231865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.198	B	0.016	B	.	.	0.990	N	0	N	2.67	T	-1.010	T	0.019	T	0.126	1.911	12.35	1.89	0.840	0.447	5.455	0.008	0.00501122642021	.	0.000199681	0.0017	0	0.0085	0	0	0.0024	0	0.0019	0.0002587	40	154602	rs558379371	0.0004	0.0004	0.0004	0.0004	0.0020	0.0003	0.0003	0.0010	0.0007	4.948e-05	0.0003	0.0148	0	0	0.0020	0.0001	0.0015	0.0009	0.0006	0.0006	0.0005	0.0008	0.0012	0.0005	0.0005	0.0005	0.0004	4.857e-05	0	0.0009	0.0162	0	0	0.0034	0.0002	0.0005	0.0012	0.331	0.13088	T	0.0	0.92824	D	0.198	0.29589	B	0.016	0.17743	B	.	.	.	.	0.990245	0.24196	N	0.895	0.22405	L	2.67	0.12473	T	-0.14	0.09135	N	0.166	0.17553	-1.0096	0.27043	T	0.019	0.07893	T	9	0.0044174194	0.00090	T	0.005011	0.12660	T	0.008	0.00669	.	.	0.117191471859	0.11215	0.15201814647770126	0.15123	0.893785170979	0.70334	0.858622908592	0.90907	D	0.011718	0.10413	T	-0.565026	0.00237	T	-0.624931	0.10803	T	0.021094505726029	0.00811	T	0.326967	0.06756	T	0.066502005	0.14315	0.14532992	0.34470	0.066502005	0.14315	0.14532992	0.34469	-5.721	0.43880	T	.	.	0.130	0.27762	B	.	.	2.610327	0.33905	19.48	0.91895283157090735	0.21215	0.29616	0.23868	N	AEFGBHCIJ	0.070627	0.14027	N	-0.537484552455157	0.20878	1.103891	-0.446315217120843	0.23653	1.29105	0.999999515070816	0.74766	0.407012	0.06308	2	0.166054	0.03914	2	0.166054	0.03999	2	0.56214	0.19341	0	.	.	1.89	1.89	0.24700	0.012000	0.13184	.	.	0.292000	0.18798	0.010000	0.18352	.	.	0.986000	0.61781	0.1826:0.0:0.8174:0.0	5.455	0.15884	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1092.98	34	chr7	140176891	.	G	C	1092.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.590e-01;DP=802;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=-8.990e-01;SOR=0.636	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1193	20	0	1	0
chr7	140587704	140587704	G	T	exonic	DENND2A	.	nonsynonymous SNV	DENND2A:NM_001318052:exon3:c.C1072A:p.L358M	.	.	431	1090	1	0	0	1	0.000458505	.	.	2683789	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	1.0	D	0.991	D	0.001	D	0.888	D	1.935	M	3.53	T	-1.112	T	0.050	T	0.37	3.211	16.76	-2.32	-0.915	2.032	6.500	0.132	0.0124644170005	0.0002	0.000199681	9.954e-05	0	8.64e-05	0	0	0.0002	0	0	9.06e-05	14	154602	rs146122731	0.0001	0.0001	0.0001	0.0001	0.0009	0.0001	0.0001	0.0003	0.0002	0	8.945e-05	0	0	1.872e-05	0.0009	0.0002	0.0002	1.159e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	8.718e-05	0.0001	9.899e-05	0	0	0.0003	0	0	0	0	0.0002	0.0019	0	0.082	0.33254	T	0.243	0.24193	T	0.997	0.90584	D	0.921	0.79672	D	0.000636	0.42799	D	0.098318	0.887808	0.35886	D	2.67	0.78151	M	3.53	0.10871	T	-0.78	0.22944	N	0.534	0.56231	-1.1123	0.02879	T	0.050	0.21104	T	10	0.18543854	0.33964	T	0.012464	0.31052	T	0.132	0.35948	.	.	0.216943180021	0.21308	0.17146809390402298	0.17066	0.667692600493	0.59260	0.569454550743	0.48600	T	0.048265	0.27968	T	-0.333939	0.05819	T	-0.448157	0.27900	T	0.366918414831161	0.27678	T	0.908809	0.67676	D	0.06487025	0.13809	0.068195395	0.14210	0.06487025	0.13808	0.068195395	0.14209	-5.889	0.45341	T	.	.	0.091	0.24833	B	.;.;.;.	.;.;.;.	2.701887	0.35291	19.86	0.99228889414485366	0.56151	0.90809	0.52301	D	AEFDBI	0.641947	0.61910	D	0.0995420514628052	0.46439	2.884398	-0.0252163345187117	0.38579	2.274987	0.887726087445702	0.25772	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.23	-2.32	0.06360	2.104000	0.41440	-0.115000	0.11785	-0.106000	0.15538	1.000000	0.71638	0.064000	0.22093	0.994000	0.71098	0.2538:0.1095:0.6367:0.0	6.500	0.21359	664	0.61548	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1275.98	34	chr7	140587704	.	G	T	1275.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.530e-01;DP=809;ExcessHet=0.0000;FS=2.369;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=0.485;SOR=0.471	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1291	20	0	1	0
chr7	141662700	141662700	C	G	exonic	DENND11	.	nonsynonymous SNV	DENND11:NM_001080392:exon9:c.G1324C:p.G442R,	.	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.986	D	0.687	P	0.000	D	1.000	D	1.935	M	.	.	-0.351	T	0.335	T	0.898	4.236	22.0	5.41	2.522	5.457	19.181	0.730	0.00684999826857	0.0005	0.000599042	0.0012	0.0002	0.0015	0	0.0006	0.0017	0	6.759e-05	0.0011061	171	154602	rs200809072	0.0011	0.0011	0.0012	0.0010	0.0013	0.0010	0.0010	0.0013	0.0012	0.0002	0.0006	3.849e-05	0	0.0003	0.0012	0.0013	0.0010	0.0001	0.0010	0.0010	0.0009	0.0010	0.0020	0.0008	0.0008	0.0014	0.0012	9.626e-05	0	0.0020	0	0	0.0003	0.0034	0.0015	0.0005	0.0002	0.018	0.50676	D	0.005	0.72224	D	.	.	.	.	.	.	0.000012	0.62929	D	0.113394	0.999999	0.58761	D	.	.	.	.	.	.	-1.95	0.47514	N	0.777	0.77413	-0.3513	0.73515	T	0.335	0.70182	T	9	0.19898704	0.35890	T	0.00685	0.18121	T	0.730	0.90545	.	.	0.578650849052	0.57535	0.8491532727978855	0.84877	1.05403310488	0.76262	0.838059425354	0.87798	D	.	.	.	0.0657333	0.60326	T	0.326772	0.89373	D	0.157409325242043	0.17678	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855	0.80040	P	.;.	.;.	4.762696	0.77023	26.6	0.99913661080419702	0.98238	0.92155	0.55067	D	AEFDBCI	0.734537	0.68064	D	0.642597860431752	0.75890	6.386702	0.656734980551671	0.79111	7.014251	0.999999999996898	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.41	5.41	0.78313	5.531000	0.66860	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.181	0.93609	674	0.60593	.;Tripartite DENN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1122.98	37	chr7	141662700	.	C	G	1122.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.217e+00;DP=870;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.03;ReadPosRankSum=-3.580e-01;SOR=0.760	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr7	141708814	141708814	G	C	exonic	WEE2	.	nonsynonymous SNV	WEE2:NM_001105558:exon1:c.G56C:p.C19S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	T	0.01	B	0.005	B	0.001	U	0.970	N	0.86	L	2.08	T	-1.027	T	0.034	T	0.114	0.591	7.190	3.83	1.605	1.491	13.830	0.066	0.00278330625356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.394	0.10694	T	0.597	0.08025	T	0.01	0.15535	B	0.005	0.11217	B	0.000909	0.41128	U	0.095708	0.970112	0.25720	N	0.625	0.15840	N	2.08	0.20255	T	-2.83	0.59710	D	0.163	0.17140	-1.0267	0.21527	T	0.034	0.14509	T	10	0.08005151	0.12950	T	0.002783	0.05781	T	0.066	0.19193	0.181	0.08877	0.144782658237	0.14088	0.05068068433117652	0.05010	0.177712438129	0.19995	0.284123629332	0.08074	T	0.22398	0.58828	T	-0.295	0.09140	T	-0.661523	0.08163	T	0.370780169963837	0.27827	T	.	.	.	0.16153122	0.36169	0.20125964	0.44098	0.16153122	0.36168	0.20125964	0.44097	-1.446	0.01657	T	.	.	0.075	0.05491	B	.	.	1.627351	0.20777	14.91	0.52640498130325097	0.04786	0.78778	0.38919	D	AEFBI	0.307101	0.41407	N	-0.866942784596218	0.11636	0.5625868	-0.784626071155834	0.14871	0.7793318	0.998467410148152	0.37014	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.72	3.83	0.43287	1.691000	0.37340	.	.	-0.158000	0.11653	0.792000	0.29619	0.028000	0.21151	0.415000	0.27117	0.0:0.0:0.8466:0.1534	13.830	0.62867	859	0.33891	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	893.98	35	chr7	141708814	.	G	C	893.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.330;DP=775;ExcessHet=0.0000;FS=0.872;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=1.97;SOR=0.811	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1089	20	0	1	0
chr7	141724214	141724214	T	C	exonic	WEE2	.	nonsynonymous SNV	WEE2:NM_001105558:exon8:c.T1160C:p.I387T,	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.616	P	0.444	B	0.000	U	0.996	D	1.66	L	1.02	T	-0.530	T	0.273	T	0.263	1.741	11.78	5.71	2.171	2.796	15.978	0.131	0.0377963805797	.	.	8.285e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs756202556	6.842e-06	6.84e-06	2.723e-06	1.1e-05	0.0002	3.46e-06	2.52e-06	4.585e-05	3.277e-05	0	0	0	0	0	0.0002	8.994e-07	0	9.29e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.34800	T	0.163	0.38016	T	0.616	0.39820	P	0.444	0.45865	B	0.000221	0.47286	U	0.136903	0.995868	0.42895	D	1.68	0.43186	L	1.02	0.64264	T	-3.86	0.72471	D	0.444	0.48227	-0.5305	0.67523	T	0.273	0.64474	T	10	0.21493232	0.38030	T	0.037796	0.57836	D	0.131	0.35738	0.547	0.66156	0.571137827458	0.56780	0.50241477843521	0.50163	0.676155866207	0.59746	0.447686314583	0.31627	T	0.167202	0.51374	T	-0.162059	0.26442	T	-0.369933	0.36897	T	0.879561841487885	0.52954	D	.	.	.	0.3436766	0.56570	0.30700666	0.56723	0.3436766	0.56570	0.30700666	0.56722	-6.852	0.52945	T	.	.	0.169	0.37235	B	.;.	.;.	2.889023	0.38257	20.7	0.98177639525254179	0.38916	0.67334	0.33395	D	AEFBI	0.322871	0.42524	N	0.104608042196178	0.46678	2.904487	0.120597754093883	0.45605	2.820605	0.164325803626696	0.17641	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.71	5.71	0.89031	2.302000	0.43298	.	.	0.665000	0.62972	0.052000	0.21487	1.000000	0.68203	0.810000	0.38174	0.0:0.0:0.0:1.0	15.978	0.79878	851	0.35303	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1313.98	33	chr7	141724214	.	T	C	1313.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.984;DP=827;ExcessHet=0.0000;FS=2.517;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=0.518;SOR=0.730	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1336	20	0	1	0
chr7	141764334	141764334	T	C	exonic	TAS2R3	.	nonsynonymous SNV	TAS2R3:NM_016943:exon1:c.T176C:p.L59P,	.	.	406	1115	1	0	0	1	0.000448229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.985	D	0.001	D	1.000	D	3.305	M	5.5	T	-1.216	T	0.018	T	0.811	2.330	13.75	4.96	2.371	1.841	10.626	0.213	0.0121487170626	.	.	1.647e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs765207006	1.984e-05	1.984e-05	9.528e-06	3.025e-05	0.0003	1.392e-05	1.203e-05	0.0002	0.0002	0	0	0	0	0	0.0003	0	1.656e-05	0.0003	1.314e-05	1.313e-05	0	2.689e-05	0.0004	2.18e-06	8.2e-07	7.287e-05	3.028e-05	0	0	0	0	0	0	0	0	0	0.0004	0.001	0.78490	D	0.008	0.67890	D	0.999	0.77913	D	0.985	0.76457	D	0.000987	0.40743	D	0.094520	0.999719	0.48481	D	3.505	0.92816	H	5.5	0.00921	T	-5.3	0.84387	D	0.863	0.85979	-1.2160	0.00065	T	0.018	0.07470	T	10	0.77604055	0.77466	D	0.012149	0.30463	T	0.213	0.50496	0.625	0.76028	0.271763555656	0.26798	0.53427711006469	0.53352	0.176224816817	0.19835	0.45029103756	0.31983	T	0.071912	0.34324	T	-0.0782573	0.39999	T	-0.0539954	0.66750	D	0.890712022781372	0.54157	D	0.433257	0.11819	T	0.9335484	0.94593	0.92829293	0.96976	0.9335484	0.94593	0.92829293	0.96977	-7.767	0.59471	D	.	.	0.264	0.49884	B	.	.	3.652837	0.51852	23.2	0.99827690902493227	0.90939	0.38780	0.26065	N	AEFBI	0.265213	0.38239	N	0.432512969246594	0.63218	4.551427	0.271163956873282	0.53862	3.553253	0.187088295792829	0.17952	0.372202	0.05800	0	0.446627	0.06534	0	0.54472	0.12158	0	0.491896	0.07777	0	.	.	6.17	4.96	0.65153	1.123000	0.30922	.	.	0.665000	0.62972	0.007000	0.17678	0.995000	0.32472	0.027000	0.12703	0.1438:0.0:0.0:0.8562	10.626	0.44701	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3334.98	33	chr7	141764334	.	T	C	3334.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.278e+00;DP=1203;ExcessHet=0.0000;FS=6.738;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=-2.008e+00;SOR=1.021	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	20	0	1	0
chr7	141790419	141790419	G	A	exonic	TAS2R5	.	nonsynonymous SNV	TAS2R5:NM_018980:exon1:c.G58A:p.G20S,	.	.	424	1073	24	1	0	26	0.0119705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	.	.	1.000	N	2.585	M	4.86	T	-1.099	T	0.018	T	0.708	1.959	12.51	3.71	1.140	2.613	9.941	0.135	0.00537984679718	0.0036	0.00299521	0.0047	0.0003	0.0074	0	0.0003	0.0069	0.0077	0.0011	0.0045601	705	154602	rs2234013	0.0035	0.0035	0.0034	0.0036	0.0456	0.0034	0.0034	0.0411	0.0393	0.0015	0.0070	0.0667	0	9.36e-05	0.0456	0.0019	0.0097	0.0011	0.0039	0.0039	0.0039	0.0039	0.0063	0.0036	0.0035	0.0053	0.0049	0.0006	0.0110	0.0063	0.0730	0.0002	9.411e-05	0.0514	0.0025	0.0085	0.0010	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	1	0.08975	N	2.44	0.70756	M	4.86	0.01459	T	-5.56	0.86296	D	0.381	0.42247	-1.0987	0.04252	T	0.018	0.07470	T	9	0.0037351847	0.00069	T	0.00538	0.13801	T	0.135	0.36572	.	.	0.215869574891	0.21205	0.49549662385187787	0.49470	0.368469319356	0.38399	0.362397372723	0.19735	T	0.032881	0.22678	T	-0.342783	0.05198	T	-0.257912	0.49033	T	0.0800587087702255	0.09995	T	0.60384	0.22664	T	0.51646477	0.68056	0.7054256	0.82634	0.51646477	0.68057	0.7054256	0.82635	-4.741	0.33896	T	.	.	0.484	0.63830	A	.	.	2.710580	0.35433	19.90	0.99510940079359178	0.68618	0.65890	0.32890	D	AEFDBI	0.076168	0.15316	N	0.0651727899831126	0.44843	2.75108	-0.130487530220542	0.34167	1.962412	0.0376705390487443	0.14309	0.562547	0.31514	0	0.601575	0.49859	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	4.59	3.71	0.41733	2.955000	0.48814	.	.	-0.837000	0.02821	0.718000	0.28801	0.941000	0.28781	0.019000	0.11356	0.0:0.0:0.7974:0.2026	9.941	0.40752	894	0.26265	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1193.98	98	chr7	141790419	.	G	A	1193.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.25;DP=792;ExcessHet=0.0000;FS=0.776;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=0.114;SOR=0.572	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1227	20	0	1	0
chr7	141919131	141919131	C	A	exonic	OR9A4	.	nonsynonymous SNV	OR9A4:NM_001001656:exon2:c.C256A:p.L86I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.064	B	0.011	B	.	.	1.000	N	0.67	N	5.76	T	-0.896	T	0.001	T	0.123	0.058	4.318	2.83	2.121	0.078	10.446	0.074	.	0.0089	0.0105831	0.0029	0.0314	0.0021	0	0	4.496e-05	0.0011	0	0.0027555	426	154602	rs145481939	0.0007	0.0007	0.0008	0.0006	0.0229	0.0007	0.0007	0.0216	0.0211	0.0229	0.0022	0	0	0	0.0012	2.338e-05	0.0020	8.115e-05	0.0077	0.0078	0.0081	0.0073	0.0263	0.0074	0.0072	0.0250	0.0245	0.0263	0	0.0048	0	0	0	0	4.41e-05	0.0052	0	0.022	0.48642	D	0.451	0.12920	T	0.064	0.23455	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	5.76	0.00695	T	-0.35	0.12847	N	0.278	0.31478	-0.8959	0.48399	T	0.001	0.00318	T	9	0.0030588508	0.00050	T	.	.	.	0.074	0.21613	.	.	0.278143212241	0.27437	0.03562909514415973	0.03509	0.0707918277514	0.07938	0.278338134289	0.07262	T	0.007799	0.07183	T	-0.648685	0.00074	T	-0.683618	0.06765	T	0.00745726439580505	0.00086	T	0.455254	0.13018	T	0.058543637	0.11789	0.20664166	0.44887	0.058543637	0.11788	0.20664166	0.44886	-3.778	0.20476	T	.	.	0.103	0.18539	B	.;.	.;.	0.864501	0.12371	8.908	0.93604499818686016	0.23464	0.01880	0.05784	N	AEFI	0.050237	0.08761	N	-0.567536567134491	0.19936	1.047315	-0.516445151701444	0.21707	1.175526	4.19586670873106E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.8	2.83	0.32150	0.409000	0.20803	.	.	-0.176000	0.10722	0.009000	0.18154	0.000000	0.08366	0.046000	0.14843	0.1947:0.8053:0.0:0.0	10.446	0.43679	876	0.30350	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2200.98	38	chr7	141919131	.	C	A	2200.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.349e+00;DP=868;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=-6.600e-02;SOR=0.675	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1117	20	0	1	0
chr7	141919605	141919605	C	T	exonic	OR9A4	.	nonsynonymous SNV	OR9A4:NM_001001656:exon2:c.C730T:p.H244Y,	.	.	447	1063	11	1	0	13	0.00607761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	1.000	D	4.035	H	8.14	T	-0.980	T	0.004	T	0.649	3.928	19.98	3.8	2.121	3.536	13.566	0.322	0.00268588202268	0.0002	0.000599042	0.0006	9.98e-05	0.0008	0	0	0.0007	0	0.0011	0.0005627	87	154602	rs202084971	0.0003	0.0003	0.0003	0.0004	0.0066	0.0003	0.0003	0.0049	0.0044	5.974e-05	0.0008	0	0	3.744e-05	0.0066	0.0003	0.0008	0.0008	0.0003	0.0003	0.0003	0.0003	0.0007	0.0002	0.0002	0.0004	0.0003	0	0	0.0007	0	0	9.411e-05	0.0034	0.0004	0.0014	0.0006	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.982786	0.39934	D	4.555	0.99139	H	8.14	0.00289	T	-5.89	0.88767	D	0.619	0.63459	-0.9796	0.35094	T	0.004	0.01226	T	9	0.15119228	0.28582	T	0.002686	0.05492	T	0.322	0.64420	.	.	0.663413071915	0.66058	0.31168508354321994	0.31081	0.285961250537	0.31003	0.246184393764	0.03377	T	0.038582	0.24892	T	-0.273038	0.11420	T	-0.233799	0.51402	T	0.250876940836329	0.22912	T	0.768423	0.39759	T	0.40296006	0.60937	0.6708632	0.80687	0.40296006	0.60938	0.6708632	0.80688	-6.339	0.49031	T	.	.	0.153	0.33913	B	.;.	.;.	3.969435	0.58280	24.0	0.99752260564949746	0.84382	0.96774	0.70868	D	AEFBI	0.404187	0.47758	N	0.800263905455608	0.86123	8.785218	0.645913964793305	0.78305	6.849964	0.993059091307172	0.33067	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.8	3.8	0.42887	4.176000	0.58065	.	.	0.599000	0.40250	0.998000	0.41325	0.656000	0.25990	0.285000	0.24139	0.0:1.0:0.0:0.0	13.566	0.61285	882	0.29131	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1468.98	38	chr7	141919605	.	C	T	1468.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.158e+00;DP=812;ExcessHet=0.0000;FS=1.575;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.99;ReadPosRankSum=-1.120e-01;SOR=0.859	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1117	20	0	1	0
chr7	141973323	141973323	G	A	exonic	TAS2R38	.	nonsynonymous SNV	TAS2R38:NM_176817:exon1:c.C367T:p.R123C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.46	P	0.153	B	0.030	N	1.000	N	2.015	M	5.75	T	-0.958	T	0.004	T	0.495	1.331	10.37	4.7	2.603	1.364	13.330	0.126	0.0225688775057	.	.	1.652e-05	0	0	0	0	1.502e-05	0	6.061e-05	1.29e-05	2	154602	rs782008737	1.573e-05	1.573e-05	1.77e-05	1.375e-05	0.0002	1.048e-05	8.75e-06	3.766e-05	2.662e-05	0	2.236e-05	0	0	0	0.0002	1.259e-05	0	8.116e-05	6.579e-06	6.568e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.013	0.53900	D	0.022	0.57587	D	0.46	0.36353	P	0.153	0.34292	B	0.030122	0.25353	N	0.334875	0.999996	0.08975	N	2.39	0.68882	M	5.75	0.00703	T	-3.21	0.64826	D	0.16	0.16725	-0.9583	0.39497	T	0.004	0.01470	T	10	0.21598619	0.38168	T	0.022569	0.45471	T	0.126	0.34673	0.581	0.70733	0.337621943819	0.33374	0.12837471249178523	0.12762	0.889581959252	0.70159	0.178809210658	0.00083	T	0.02689	0.19803	T	-0.264765	0.12347	T	-0.436565	0.29193	T	0.941500782966614	0.61482	D	0.854315	0.54093	D	0.2488074	0.47871	0.2293741	0.48007	0.2488074	0.47871	0.2293741	0.48006	-4.474	0.30547	T	.	.	0.108	0.20586	B	.	.	2.180747	0.27794	17.58	0.99186058176690817	0.54819	0.12087	0.17051	N	AEFBI	0.214992	0.34040	N	-0.233732542269359	0.31757	1.783967	-0.292884484238944	0.28332	1.578946	0.469903866808745	0.20698	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.7	4.7	0.58776	2.080000	0.41211	.	.	0.676000	0.76740	0.057000	0.21666	0.059000	0.21998	0.494000	0.28882	0.0:0.0:1.0:0.0	13.330	0.59922	832	0.38914	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1773.98	37	chr7	141973323	.	G	A	1773.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.99;DP=1393;ExcessHet=0.0000;FS=2.313;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.66;ReadPosRankSum=0.838;SOR=0.805	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr7	142056908	142056908	C	G	exonic	MGAM	.	nonsynonymous SNV	MGAM:NM_001365693:exon30:c.C3659G:p.P1220R	.	.	438	1080	4	0	0	4	0.00184843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.003	N	1.000	D	3.645	H	-2.5	D	1.001	D	0.870	D	0.883	2.767	15.21	4.17	1.857	7.716	15.210	0.806	0.0211558464645	0.0004	0.000199681	0.0007	0.0001	0	0	0	0.0009	0	0.0015	0.0005951	92	154602	rs200326465	0.0004	0.0004	0.0004	0.0005	0.0029	0.0004	0.0004	0.0019	0.0015	2.987e-05	0.0005	0.0088	2.519e-05	0	0.0029	0.0002	0.0007	0.0018	0.0004	0.0004	0.0004	0.0005	0.0017	0.0003	0.0003	0.0008	0.0006	7.226e-05	0	0.0003	0.0058	0.0002	0	0.0136	0.0004	0.0005	0.0017	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.003009	0.35573	N	0.000000	0.999743	0.48716	D	3.95	0.96445	H	-2.5	0.89219	D	-8.43	0.97186	D	0.944	0.95139	1.001	0.97211	D	0.870	0.95681	D	10	0.12902677	0.24548	T	0.021156	0.43885	T	0.806	0.93699	.	.	0.942995736198	0.94240	0.5795499367041943	0.57883	0.308030043683	0.33109	0.676748394966	0.63803	T	0.758078	0.93424	D	0.119071	0.66279	D	0.368182	0.91007	D	0.240350029927846	0.22436	T	0.938806	0.76978	D	0.62005484	0.73766	0.68006474	0.81202	0.62005484	0.73767	0.68006474	0.81203	-12.481	0.87115	D	.	.	0.257	0.49167	B	.;.;.	.;.;.	4.737501	0.76369	26.5	0.99784749463423461	0.87131	0.98222	0.80675	D	AEFI	0.906981	0.86044	D	0.690181247822271	0.78989	6.98396	0.527997906814061	0.69882	5.424123	0.999984859065071	0.51787	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.17	4.17	0.48303	7.539000	0.80984	.	.	0.333000	0.19617	1.000000	0.71638	1.000000	0.68203	0.731000	0.35132	0.0:1.0:0.0:0.0	15.210	0.72902	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	4992.11	46	chr7	142056908	.	C	G	4992.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.51;DP=1208;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=1.58;SOR=0.645	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1219	19	0	2	0
chr7	142063511	142063511	C	A	exonic	MGAM	.	nonsynonymous SNV	MGAM:NM_001365693:exon36:c.C4270A:p.P1424T	.	.	424	1088	10	0	0	10	0.00457457	.	.	699890	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	.	.	1.000	D	4.615	H	-3.13	D	0.932	D	0.906	D	0.853	3.856	19.59	4.12	1.839	7.707	15.216	0.924	.	0.0066	0.00259585	0.0073	0.0011	0.0026	0	0.0198	0.0098	0.0084	0.0031	0.0068887	1065	154602	rs185053832	0.0097	0.0097	0.0099	0.0095	0.0108	0.0096	0.0095	0.0107	0.0106	0.0013	0.0031	0.0073	5.043e-05	0.0171	0.0024	0.0108	0.0093	0.0031	0.0075	0.0076	0.0076	0.0075	0.0112	0.0072	0.0070	0.0105	0.0102	0.0016	0.0121	0.0035	0.0092	0	0.0184	0	0.0112	0.0095	0.0021	0.002	0.72154	D	0.002	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999672	0.48205	D	4.15	0.97575	H	-3.13	0.92829	D	-7.47	0.94958	D	0.935	0.94904	0.932	0.96136	D	0.906	0.96892	D	9	0.041749626	0.02858	T	.	.	.	0.924	0.98117	.	.	0.968639366473	0.96829	0.7952344949650757	0.79476	0.314917620909	0.33772	0.616810083389	0.55278	T	0.826896	0.95826	D	0.0869764	0.62847	D	0.362547	0.90798	D	0.096197229198094	0.11933	T	0.934107	0.84340	D	0.86951214	0.88823	0.81677973	0.89333	0.86951214	0.88824	0.81677973	0.89333	-13.011	0.89410	D	.	.	0.951	0.87017	P	.;.;.	.;.;.	4.458664	0.69369	25.4	0.9966564841761234	0.78266	0.99259	0.93576	D	AEFBI	0.872503	0.79439	D	0.851508806426223	0.89192	9.87237	0.67211760356626	0.80267	7.261131	0.999993569595763	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.12	4.12	0.47504	7.512000	0.80617	.	.	0.329000	0.19528	1.000000	0.71638	1.000000	0.68203	0.783000	0.37026	0.0:1.0:0.0:0.0	15.216	0.72960	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2302.98	44	chr7	142063511	.	C	A	2302.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.648;DP=981;ExcessHet=0.0000;FS=2.912;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.69;MQRankSum=0.248;QD=9.52;ReadPosRankSum=0.342;SOR=0.902	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1459	20	0	1	0
chr7	142067426	142067426	G	A	splicing	MGAM	NM_001365693:exon42:c.5004+1G>A	.	.	.	.	.	.	.	.	.	.	.	0.0044	0.024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.477	10.88	3.98	1.756	8.285	14.894	.	.	0.0002	0.000199681	5.232e-05	0	0	0	0	9.572e-05	0	0	5.17e-05	8	154602	rs189725035	3.553e-05	3.845e-05	3.395e-05	3.712e-05	8.978e-05	2.733e-05	2.467e-05	2.951e-05	2.616e-05	8.978e-05	6.836e-05	0	0	0	0	3.941e-05	1.714e-05	1.182e-05	9.02e-05	8.758e-05	9.452e-05	8.564e-05	0.0001	5.323e-05	4.167e-05	7.34e-05	5.502e-05	4.887e-05	0	7.024e-05	0	0	0	0	0.0001	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.251983	0.13855	T	-0.411922	0.32003	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.454679	0.69278	25.4	0.98467301002139462	0.41814	0.98939	0.88905	D	AEFGI	.	.	.	0.150892340738554	0.48854	3.092604	0.148748581179366	0.47075	2.943306	0.972743419279853	0.29396	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.770247	0.45606	3.98	3.98	0.45383	5.056000	0.64112	.	.	0.373000	0.20310	1.000000	0.71638	1.000000	0.68203	0.015000	0.10482	0.0:0.0:1.0:0.0	14.894	0.70268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	853.98	90	chr7	142067426	.	G	A	853.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.919;DP=824;ExcessHet=0.0000;FS=1.837;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.74;MQRankSum=-4.206e+00;QD=9.49;ReadPosRankSum=0.126;SOR=0.995	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr7	142080808	142080808	C	G	exonic	MGAM	.	nonsynonymous SNV	MGAM:NM_001365693:exon50:c.C5865G:p.N1955K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	.	.	.	.	.	.	0.997	N	.	.	.	.	-0.996	T	0.024	T	0.031	0.318	5.726	0.769	-0.065	0.025	1.252	0.075	0.00146914728687	.	.	0.0003	0.0001	0.0004	0.0002	0	0.0003	0	0.0004	0.0003105	48	154602	rs748656628	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	5.984e-05	0.0001	3.954e-05	0.0003	0	0	0.0002	0.0001	0.0002	9.553e-05	9.431e-05	9.313e-05	9.807e-05	0.0002	5.733e-05	4.625e-05	6.099e-05	4.424e-05	7.297e-05	0	0.0001	0	0.0002	0	0	0.0001	0	0	0.067	0.35918	T	0.48	0.11899	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.22936	N	.	.	.	.	.	.	-1.48	0.36189	N	0.304	0.34336	-0.9958	0.31082	T	0.024	0.10374	T	5	0.05877754	0.06964	T	0.001469	0.02241	T	0.075	0.21907	.	.	0.195762928549	0.19159	.	.	.	.	.	.	.	.	.	.	-0.564966	0.00237	T	-0.738793	0.03941	T	0.0307324149634913	0.02104	T	0.557244	0.19380	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.08033	B	.	.	1.802049	0.22907	15.81	0.90168870564910741	0.19446	0.16412	0.19377	N	AEFGI	0.155290	0.28047	N	-0.559523851472117	0.20186	1.062292	-0.633938380200123	0.18623	0.9956972	4.2196265981339E-4	0.06935	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.67	0.769	0.17638	0.023000	0.13424	.	.	0.596000	0.33519	0.001000	0.13787	0.000000	0.08366	0.996000	0.76049	0.1433:0.3893:0.1396:0.3278	1.252	0.01865	.	.	Galactose mutarotase, N-terminal barrel	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2853.98	38	chr7	142080808	.	C	G	2853.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.991;DP=921;ExcessHet=0.0000;FS=1.684;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.58;MQRankSum=-5.140e+00;QD=13.59;ReadPosRankSum=1.22;SOR=0.820	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr7	142154760	142154760	A	G	exonic	MGAM2	.	nonsynonymous SNV	MGAM2:NM_001293626:exon17:c.A1838G:p.N613S,	.	.	430	1072	20	0	0	20	0.00924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	.	.	.	.	.	.	.	.	.	.	.	.	-0.173	T	0.370	T	0.072	3.835	19.48	5.68	2.289	6.708	15.204	0.197	0.00807965219213	.	0.00119808	0.0005	0	0	0	0	0.0013	0	0.0001	0.0003234	50	154602	rs145084583	0.0011	0.0010	0.0012	0.0010	0.0253	0.0010	0.0010	0.0213	0.0198	0.0006	0.0014	0.0025	3.115e-05	0	0.0253	0.0009	0.0018	0.0003	0.0007	0.0007	0.0007	0.0006	0.0009	0.0006	0.0005	0.0007	0.0007	0.0003	0	0.0007	0.0026	0.0002	0	0.0136	0.0009	0.0028	0.0006	0.085	0.32769	T	0.056	0.46632	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.6	0.55983	D	0.138	0.13626	-0.1735	0.78342	T	0.370	0.72963	T	4	0.01514712	0.00318	T	0.00808	0.21418	T	0.197	0.47942	.	.	0.128392430309	0.12331	0.43507429597032266	0.43424	.	.	.	.	.	0.655525	0.89598	D	-0.537679	0.00346	T	-0.580494	0.14501	T	0.0871772746648138	0.10879	T	.	.	.	0.061447065	0.12726	0.19447856	0.43072	0.061447065	0.12725	0.19447856	0.43072	-7.134	0.55006	T	.	.	0.1	0.17146	B	.	.	2.704978	0.35341	19.87	0.99784419552450443	0.87043	0.96157	0.67794	D	AEFI	0.763573	0.70063	D	0.243302580268753	0.53307	3.500308	0.266275206764208	0.53580	3.526303	0.999968812836323	0.48965	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.68	5.68	0.88021	6.925000	0.75647	.	.	-0.053000	0.16966	0.852000	0.30477	0.200000	0.23563	0.027000	0.12703	1.0:0.0:0.0:0.0	15.204	0.72846	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1338.11	33	chr7	142154760	.	A	G	1338.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.520e-01;DP=785;ExcessHet=0.1072;FS=3.201;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.460;SOR=0.800	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1124	19	0	2	0
chr7	142160207	142160207	G	A	exonic	MGAM2	.	nonsynonymous SNV	MGAM2:NM_001293626:exon21:c.G2294A:p.R765Q,	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	.	.	.	.	.	.	.	.	-0.154	T	0.399	T	0.911	5.161	32	4.86	2.685	7.313	17.267	0.514	0.0722054183428	.	.	.	.	.	.	.	.	.	.	.	.	.	rs909961815	9.085e-06	7.952e-06	7.924e-06	1.007e-05	1.578e-05	2.66e-06	1.93e-06	5.62e-06	3.36e-06	0	0	0	0	0	0	1.578e-05	0	0	6.573e-06	6.568e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.01	0.56456	D	0.019	0.59159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.94	0.73378	D	0.808	0.80375	-0.1538	0.78822	T	0.399	0.75073	T	4	0.9428916	0.93614	D	0.072205	0.71470	D	0.514	0.79217	0.875	0.96581	0.184867976434	0.18130	0.9339809722311773	0.93377	.	.	.	.	.	0.786393	0.94408	D	0.40846	0.90397	D	0.374128	0.91222	D	0.964952170848846	0.67117	D	.	.	.	0.1319006	0.30729	0.22518742	0.47456	0.1319006	0.30729	0.22518742	0.47455	-10.601	0.77425	D	.	.	0.527	0.65793	A	.	.	5.848090	0.93807	33	0.99955301720204859	0.99969	0.98251	0.80941	D	AEFI	0.847342	0.76420	D	0.459849266071545	0.64763	4.738422	0.523276463463817	0.69559	5.377797	0.995219883497634	0.34009	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.86	4.86	0.62624	8.039000	0.89191	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	17.267	0.86975	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1017.98	37	chr7	142160207	.	G	A	1017.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.92;DP=801;ExcessHet=0.0000;FS=0.757;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.70;ReadPosRankSum=-1.630e-01;SOR=0.850	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1175	20	0	1	0
chr7	142220968	142220968	A	G	exonic	MGAM2	.	nonsynonymous SNV	MGAM2:NM_001293626:exon48:c.A6457G:p.S2153G,	.	.	440	1079	3	0	0	3	0.00138825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	.	.	.	.	.	.	.	.	-0.931	T	0.088	T	0.036	1.475	10.88	-1.69	-0.018	0.047	2.445	0.029	0.0188390463707	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1172635891	7.269e-06	6.361e-06	3.962e-06	1.007e-05	0.0001	1.7e-06	1.15e-06	3.885e-05	2.308e-05	0	0.0001	0	0	0	0	0	0	0	1.318e-05	1.313e-05	1.289e-05	1.349e-05	0.0001	2.19e-06	8.2e-07	2.274e-05	9.12e-06	0	0	0.0001	0	0	0	0	0	0	0	0.005	0.63226	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.53	0.16393	N	0.051	0.02272	-0.9308	0.44021	T	0.088	0.34023	T	4	0.10734582	0.19935	T	0.018839	0.41032	T	0.029	0.06676	.	.	0.0138822411134	0.00435	0.23982746766678162	0.23896	.	.	.	.	.	0.00833	0.07654	T	-0.478619	0.00753	T	-0.731631	0.04254	T	0.0474781360814167	0.05051	T	.	.	.	0.04891921	0.08603	0.06741225	0.13943	0.04891921	0.08602	0.06741225	0.13943	-6.16	0.47598	T	.	.	0.082	0.08512	B	.	.	0.079220	0.04858	1.450	0.9528442952918873	0.26582	0.02381	0.06765	N	AEFBI	0.076038	0.15287	N	-0.674164023522185	0.16759	0.8567431	-0.870405487434418	0.12798	0.6603914	1.86898063413099E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.07	-1.69	0.07747	-0.367000	0.07607	.	.	0.648000	0.52827	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4314:0.0:0.1377:0.4309	2.445	0.04230	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3143.98	46	chr7	142220968	.	A	G	3143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.370e-01;DP=968;ExcessHet=0.0000;FS=0.459;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.58;ReadPosRankSum=1.03;SOR=0.729	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1259	20	0	1	0
chr7	142255546	142255546	G	C	exonic	PRSS58	.	nonsynonymous SNV	PRSS58:NM_001001317:exon3:c.C168G:p.H56Q,	.	.	9	1511	2	0	0	2	0.000661376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.991	D	.	.	1.000	D	3.71	H	-3.76	D	0.971	D	0.932	D	0.733	3.559	18.15	1.38	0.372	0.702	8.907	0.809	0.226320594255	.	0.00119808	0.0005	9.617e-05	8.684e-05	0	0	1.5e-05	0	0.0033	0.000414	64	154602	rs558381516	0.0002	0.0002	8.168e-05	0.0003	0.0027	0.0002	0.0001	0.0024	0.0023	2.988e-05	0	0	0	0	0	8.993e-07	0.0003	0.0027	0.0001	0.0001	0.0001	9.4e-05	0.0025	6.507e-05	5.32e-05	0.0014	0.0011	7.217e-05	0	0	0	0	0	0	0	0.0005	0.0025	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	0.991	0.79672	D	.	.	.	.	0.999765	0.48888	D	3.975	0.96601	H	-3.76	0.95561	D	-7.69	0.95603	D	0.511	0.55799	0.971	0.96712	D	0.932	0.97744	D	9	0.09070787	0.15826	T	0.226321	0.88039	D	0.809	0.93816	0.894	0.97506	0.914531729694	0.91366	0.6457657663265323	0.64511	0.227826433758	0.25340	0.472619324923	0.35040	T	0.582768	0.86363	D	-0.00712241	0.50668	T	0.213942	0.83868	D	0.340913368931274	0.26660	T	.	.	.	0.25256982	0.48274	0.43913427	0.67275	0.25256982	0.48274	0.43913427	0.67276	-5.475	0.41633	T	.	.	0.874	0.81129	P	.;.	.;.	3.325564	0.45760	22.2	0.99440949812621526	0.64770	0.89105	0.49373	D	AEFDI	0.198872	0.32571	N	0.539338453204945	0.69436	5.356504	0.387957394914491	0.60822	4.274217	2.02109417910036E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.19	1.38	0.21262	0.816000	0.26924	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.317:0.0:0.683:0.0	8.907	0.34687	934	0.15400	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2097.98	42	chr7	142255546	.	G	C	2097.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.110e-01;DP=985;ExcessHet=0.0000;FS=1.247;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=1.65;SOR=0.579	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr7	142772109	142772109	C	A	exonic	PRSS2	.	nonsynonymous SNV	PRSS2:NM_001303414:exon2:c.C101A:p.S34Y	.	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs147670699	3.564e-05	0.0008	3.956e-05	3.168e-05	0.0015	2.768e-05	2.506e-05	0.0012	0.0010	0.0015	2.242e-05	0	0	0	0.0002	0	4.989e-05	0	0.0022	0.0085	0.0023	0.0021	0.0079	0.0020	0.0019	0.0071	0.0069	0.0079	0	0.0007	0	0	0	0	4.41e-05	0.0014	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.723	0.72477	.	.	.	.	.	.	.	0.3983361	0.55388	T	.	.	.	.	.	.	.	.	.	0.590425253124696	0.58972	.	.	.	.	.	0.085064	0.87408	T	.	.	.	.	.	.	.	.	.	0.966303	0.87634	D	.	.	.	.	.	.	.	.	-12.121	0.85436	D	.	.	0.598	0.69873	P	.;.;.;.	.;.;.;.	4.269802	0.64956	24.8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.843000	0.62537	.	.	0.599000	0.40250	0.919000	0.31930	0.020000	0.20764	0.074000	0.16894	.	.	.	782	0.47442	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	960.98	200	chr7	142772109	.	C	A	960.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.120e+00;DP=4158;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.65;MQRankSum=-8.609e+00;QD=2.08;ReadPosRankSum=-1.084e+00;SOR=0.731	GT:AD:DP:GQ:PL	0/0:240,0:240:99:0,120,1800	20	0	1	0
chr7	142773313	142773313	G	A	exonic	PRSS2	.	nonsynonymous SNV	PRSS2:NM_002770:exon3:c.G248A:p.G83E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs751548923	4.79e-05	0.0002	5.991e-05	3.576e-05	6.207e-05	3.861e-05	3.541e-05	4.988e-05	4.57e-05	2.987e-05	0	0	0	0	0	6.207e-05	0	0	7.222e-05	0.0001	0.0001	2.686e-05	0.0002	3.968e-05	3.125e-05	9.048e-05	7.012e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.058	0.66756	T	.	.	.	.	.	.	0.000000	0.84330	D	0.089188	0.999989	0.54805	D	.	.	.	.	.	.	.	.	.	0.614	0.68603	0.132	0.84747	D	0.550	0.83527	D	10	0.91851616	0.91209	D	0.15379	0.83500	D	.	.	0.715	0.85051	.	.	0.6039606376462681	0.60327	.	.	0.43368434906	0.29712	T	0.079335	0.85921	T	0.329841	0.85154	D	0.236018	0.84960	D	0.993505120277405	0.84328	D	0.748625	0.36937	T	0.47272354	0.65458	0.65787554	0.79962	0.47272354	0.65458	0.65787554	0.79963	-8.265	0.62861	D	.	.	0.386	0.60068	A	.;.;.;.	.;.;.;.	4.172297	0.62744	24.5	0.99326982048274159	0.59622	0.94022	0.59878	D	AEFBI	.	.	.	0.0799654814585736	0.45529	2.807892	0.0130212056036111	0.40318	2.404278	0.59344749383873	0.21666	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.28	3.28	0.36691	6.614000	0.74067	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.002000	0.04165	0.1181:0.0:0.8819:0.0	9.163	0.36194	782	0.47442	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1013.98	171	chr7	142773313	.	G	A	1013.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.000e-03;DP=4203;ExcessHet=0.0000;FS=1.456;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.58;MQRankSum=-4.495e+00;QD=2.51;ReadPosRankSum=-3.880e-01;SOR=0.525	GT:AD:DP:GQ:PL	0/0:320,0:320:99:0,120,1800	20	0	1	0
chr7	142863990	142863990	G	A	exonic	EPHB6	.	nonsynonymous SNV	EPHB6:NM_004445:exon7:c.G190A:p.D64N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.828	P	0.208	B	0.005	N	1.000	D	0.64	N	3.87	T	-0.796	T	0.009	T	0.077	3.992	20.4	4.38	2.548	5.697	14.202	0.123	0.0179069598053	.	.	3.319e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs752294317	2.189e-05	2.189e-05	1.906e-05	2.475e-05	0.0001	1.584e-05	1.356e-05	6.246e-05	4.757e-05	0	0	0	0	0	0	1.799e-05	3.311e-05	0.0001	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	0.039	0.42487	D	0.062	0.45318	T	.	.	.	.	.	.	0.005394	0.32840	N	0.139515	0.999999	0.81001	D	.	.	.	3.87	0.03597	T	-2.56	0.55339	D	0.147	0.15046	-0.7962	0.55368	T	0.009	0.03315	T	10	0.24739802	0.42020	T	0.017907	0.39789	T	.	.	0.624	0.75916	0.727204820656	0.72478	0.686426921402895	0.68582	.	.	0.611348867416	0.54507	T	0.013906	0.11938	T	-0.450919	0.01116	T	-0.625812	0.10735	T	0.242211729288101	0.22521	T	0.859714	0.55187	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40602	B	.;.	.;.	4.285285	0.65313	24.8	0.99866240266743844	0.94457	0.97559	0.75543	D	AEFDBI	0.803012	0.72827	D	0.300076683218055	0.56153	3.779659	0.410549730823619	0.62220	4.433975	0.999993145651864	0.74766	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.579976	0.35079	0	.	.	5.45	4.38	0.52019	5.804000	0.68800	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0853:0.0:0.9147:0.0	14.202	0.65254	720	0.55521	Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain;Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1335.98	37	chr7	142863990	.	G	A	1335.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.772;DP=1277;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.84;ReadPosRankSum=-2.900e-01;SOR=0.778	GT:AD:DP:GQ:PL	0/0:65,0:65:99:0,120,1800	20	0	1	0
chr7	142864297	142864299	CCT	-	exonic	EPHB6	.	nonframeshift deletion	EPHB6:NM_004445:exon7:c.497_499del:p.S177del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0090	.	0.0030	0.0009	0.0027	0.0001	0.0030	0.0040	0.0023	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	60299.65	90	chr7	142864293	.	CCCTCCT	CCCT,C,CCCTCCTCCT	60299.65	.	AC=37,1,2;AF=0.881,0.024,0.048;AN=42;BaseQRankSum=0.649;DP=1834;ExcessHet=0.1072;FS=1.273;InbreedingCoeff=-0.0500;MLEAC=37,1,2;MLEAF=0.881,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=30.29;ReadPosRankSum=0.118;SOR=1.001	GT:AD:DP:GQ:PL	1/1:0,80,0,0:80:99:3471,241,0,3471,241,3471,3471,241,3471,3471	0	16	2	0
chr7	142864299	142864299	-	CCT	exonic	EPHB6	.	nonframeshift insertion	EPHB6:NM_004445:exon7:c.499_500insCCT:p.S177_A178insS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	60299.65	90	chr7	142864293	.	CCCTCCT	CCCT,C,CCCTCCTCCT	60299.65	.	AC=37,1,2;AF=0.881,0.024,0.048;AN=42;BaseQRankSum=0.649;DP=1834;ExcessHet=0.1072;FS=1.273;InbreedingCoeff=-0.0500;MLEAC=37,1,2;MLEAF=0.881,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=30.29;ReadPosRankSum=0.118;SOR=1.001	GT:AD:DP:GQ:PL	1/1:0,80,0,0:80:99:3471,241,0,3471,241,3471,3471,241,3471,3471	0	16	2	0
chr7	142864336	142864336	C	T	exonic	EPHB6	.	nonsynonymous SNV	EPHB6:NM_004445:exon7:c.C536T:p.A179V,	.	.	347	1173	2	0	0	2	0.000851789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.729	P	0.086	B	0.384	N	1.000	N	0	N	-0.48	T	-1.004	T	0.085	T	0.115	0.888	8.605	2.42	1.110	1.693	5.665	0.074	0.0143750070457	0.0014	0.000998403	0.0004	0.0043	0.0003	0	0	3.138e-05	0	0	0.0003493	54	154602	rs141491735	0.0001	0.0001	0.0001	0.0001	0.0047	0.0001	0.0001	0.0041	0.0039	0.0047	0.0005	0	0	0	0	1.079e-05	0.0003	1.159e-05	0.0013	0.0013	0.0014	0.0012	0.0044	0.0011	0.0011	0.0039	0.0037	0.0044	0	0.0004	0	0	0	0	2.94e-05	0.0019	0	.	.	.	0.013	0.63109	D	.	.	.	.	.	.	0.383701	0.13354	N	0.654429	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.121	0.11197	-1.0041	0.28725	T	0.085	0.33071	T	10	0.0054031312	0.00119	T	0.014375	0.34458	T	.	.	.	.	0.409937222855	0.40610	0.42284099029932526	0.42201	.	.	0.660159051418	0.61432	T	0.005679	0.05129	T	-0.555644	0.00270	T	-0.569554	0.15490	T	0.0113353185963112	0.00168	T	0.285571	0.05082	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.17911	B	.;.	.;.	2.229371	0.28461	17.80	0.99492814912857463	0.67573	0.28881	0.23673	N	AEFDBI	0.106327	0.21218	N	-0.62887834719407	0.18080	0.9358324	-0.684263666521829	0.17354	0.9223896	0.981919718787009	0.30327	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.586402	0.36253	0	.	.	4.25	2.42	0.28720	0.664000	0.24749	.	.	0.599000	0.40250	0.000000	0.06391	0.005000	0.19230	0.139000	0.19909	0.0:0.7603:0.0:0.2397	5.665	0.16965	720	0.55521	Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain;Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1422.98	39	chr7	142864336	.	C	T	1422.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.800e-02;DP=938;ExcessHet=0.0000;FS=0.728;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=0.199;SOR=0.596	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	20	0	1	0
chr7	142868978	142868978	G	A	exonic	EPHB6	.	nonsynonymous SNV	EPHB6:NM_001280795:exon12:c.G1412A:p.R471Q	.	.	403	1103	16	0	0	16	0.00720072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.147	B	0.018	B	0.018	N	0.945	D	0.925	L	-1.63	D	-0.451	T	0.324	T	0.132	3.487	17.84	4.49	2.613	2.725	7.127	0.283	0.00848054263083	0.0005	0.00159744	0.0009	0	0.0007	0	0	0.0007	0.0012	0.0032	0.000815	126	154602	rs148701267	0.0008	0.0008	0.0007	0.0009	0.0033	0.0007	0.0007	0.0025	0.0024	0.0001	0.0007	7.66e-05	0	2.072e-05	0.0033	0.0007	0.0010	0.0027	0.0006	0.0006	0.0005	0.0007	0.0031	0.0005	0.0004	0.0019	0.0015	0.0002	0	0.0012	0	0	0	0.0136	0.0006	0.0019	0.0031	.	.	.	0.199	0.33554	T	.	.	.	.	.	.	0.017513	0.27706	N	0.174743	0.945313	0.37483	D	.	.	.	.	.	.	.	.	.	0.125	0.11912	-0.4505	0.70383	T	0.324	0.69229	T	10	0.007946998	0.00180	T	0.008481	0.22432	T	0.283	0.60100	.	.	0.591671430083	0.58844	0.6717070351229959	0.67108	.	.	0.383529484272	0.22756	T	0.221759	0.58542	T	-0.495684	0.00604	T	-0.489096	0.23486	T	0.042308587379253	0.04112	T	0.908009	0.67517	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10691	B	.;.;.	.;.;.	4.365559	0.67173	25.1	0.99817613867474131	0.90061	0.84970	0.44068	D	AEFDBI	0.431499	0.49376	N	-0.0450427405250223	0.39823	2.354834	0.131557615245748	0.46171	2.867579	0.999967080721944	0.48965	0.626454	0.40138	0	0.547309	0.14657	0	0.80507	0.99327	0	0.567892	0.33627	0	.	.	5.56	4.49	0.54177	4.633000	0.61016	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.2254:0.0:0.7746:0.0	7.127	0.24654	715	0.56137	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	968.98	36	chr7	142868978	.	G	A	968.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.46;DP=849;ExcessHet=0.0000;FS=1.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.68;ReadPosRankSum=0.609;SOR=0.979	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr7	142875888	142875888	A	G	exonic	TRPV6	.	nonsynonymous SNV	TRPV6:NM_018646:exon7:c.T899C:p.M300T,	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.047	B	0.052	B	0.000	D	1.000	D	0.295	N	-1.88	D	-0.380	T	0.387	T	0.372	3.087	16.31	4.96	1.882	7.469	13.847	0.572	0.0879955906901	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1462780609	5.574e-06	6.84e-06	5.536e-06	5.612e-06	0.0004	2.4e-06	1.73e-06	6.259e-05	2.583e-05	0	0	0	0	0	0.0004	5.452e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.67890	D	.	.	.	.	.	.	0.000119	0.50451	D	0.208186	0.999965	0.52935	D	.	.	.	.	.	.	.	.	.	0.67	0.67822	-0.3801	0.72648	T	0.387	0.74217	T	10	0.65761083	0.69965	D	0.087996	0.75047	D	0.572	0.82629	.	.	0.530509239904	0.52699	0.6553139406137359	0.65467	0.416937375628	0.42323	0.513276040554	0.40680	T	0.559519	0.85230	D	0.0751957	0.61473	D	-0.129763	0.60992	T	0.925494313240051	0.58725	D	0.79572	0.43862	T	0.32888383	0.55379	0.40858814	0.65172	0.32888383	0.55379	0.40858814	0.65172	-7.696	0.58980	D	.	.	0.424	0.60894	A	.;.	.;.	3.969526	0.58280	24.0	0.9585016512158574	0.27989	0.96280	0.68370	D	AEFDBHCI	0.955165	0.97280	D	-0.0180845327047828	0.41038	2.447545	0.179436064933389	0.48721	3.084275	0.999999993826166	0.74766	0.55562	0.30534	0	0.615948	0.52940	0	0.68496	0.61776	0	0.542086	0.14980	0	.	.	4.96	4.96	0.65153	7.454000	0.79769	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	13.847	0.62971	705	0.57330	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	382.98	33	chr7	142875888	.	A	G	382.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.651;DP=750;ExcessHet=0.0000;FS=1.210;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.66;ReadPosRankSum=0.154;SOR=0.970	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1330	20	0	1	0
chr7	142885440	142885440	C	T	exonic	TRPV6	.	nonsynonymous SNV	TRPV6:NM_018646:exon1:c.G197A:p.R66Q,	.	.	.	.	.	.	.	.	.	.	.	2719436	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.8	T	0.0	B	0.0	B	0.445	N	1.000	N	-0.315	N	-1.03	T	-0.907	T	0.123	T	0.144	-0.456	1.889	-6.37	-1.271	-0.604	6.506	0.167	0.0213606392731	.	0.000199681	8.262e-06	0	0	0	0	0	0	6.143e-05	1.94e-05	3	154602	rs200774945	4.242e-05	4.309e-05	3.131e-05	5.363e-05	0.0003	3.377e-05	3.065e-05	0.0002	0.0002	5.974e-05	0	0	5.039e-05	3.744e-05	0	2.608e-05	6.624e-05	0.0003	1.97e-05	1.969e-05	2.571e-05	1.343e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0.0002	9.413e-05	0	0	0.0005	0	.	.	.	0.875	0.03268	T	.	.	.	.	.	.	0.444967	0.12580	N	0.715535	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.054	0.02559	-0.9072	0.47191	T	0.123	0.42568	T	10	0.019539982	0.00438	T	0.021361	0.44116	T	0.167	0.42761	.	.	0.229264304666	0.22521	0.08752993444188875	0.08685	0.32387674406	0.34546	0.232261955738	0.02140	T	0.189746	0.54407	T	-0.342162	0.05239	T	-0.454969	0.27149	T	0.0138275906785259	0.00262	T	0.582242	0.21111	T	0.13008045	0.30362	0.10702285	0.25758	0.13008045	0.30362	0.10702285	0.25757	-4.163	0.26214	T	.	.	0.061	0.01075	B	.;.	.;.	0.264463	0.06425	2.897	0.73093449163706281	0.10204	0.00225	0.01265	N	AEFDBI	0.029535	0.02805	N	-1.68576004758736	0.00894	0.03867162	-1.72659315058761	0.01025	0.04595734	0.999940639411115	0.47345	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.67	-6.37	0.01790	-0.561000	0.06048	.	.	-0.894000	0.02369	0.017000	0.19353	0.000000	0.08366	0.707000	0.34357	0.0:0.5608:0.1481:0.2911	6.506	0.21391	705	0.57330	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1335.98	33	chr7	142885440	.	C	T	1335.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.728;DP=789;ExcessHet=0.0000;FS=0.797;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.92;ReadPosRankSum=-4.550e-01;SOR=0.826	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr7	142940391	142940391	C	T	exonic	LLCFC1	.	nonsynonymous SNV	LLCFC1:NM_001382496:exon2:c.C173T:p.S58F,	.	.	425	1078	18	1	0	20	0.00919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.976	D	0.005	N	0.709	D	1.445	L	.	.	-0.373	T	0.256	T	0.46	3.113	16.40	4.38	2.430	2.396	12.634	0.162	0.00688694491776	0.0021	0.000399361	0.0018	0.0006	0.0013	0	0.0014	0.0026	0	0.0010	0.0019405	300	154602	rs143475597	0.0029	0.0029	0.0028	0.0029	0.0054	0.0028	0.0028	0.0039	0.0034	0.0004	0.0009	0.0004	0	0.0012	0.0054	0.0034	0.0028	0.0011	0.0021	0.0021	0.0023	0.0020	0.0035	0.0019	0.0019	0.0032	0.0030	0.0006	0	0.0022	0.0003	0	0.0015	0.0034	0.0035	0.0019	0.0010	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	0.004720	0.33466	N	0.139105	0.70857	0.33495	D	.	.	.	.	.	.	-5.91	0.88904	D	0.374	0.41557	-0.3731	0.72866	T	0.256	0.62665	T	9	0.01358062	0.00288	T	0.006887	0.18233	T	0.162	0.41843	.	.	0.183819452728	0.17975	0.21092932366345982	0.21008	0.185773801594	0.20887	.	.	.	.	.	.	-0.326534	0.06376	T	-0.241964	0.50606	T	0.0327464138630547	0.02429	T	.	.	.	.	.	.	.	.	.	.	.	-4.499	0.30876	T	.	.	0.623	0.69832	P	.	.	3.954746	0.57957	23.9	0.99783856998318676	0.87043	0.69069	0.34043	D	AEFDBCI	0.298094	0.40750	N	0.4490503240225	0.64149	4.663066	0.393618273009087	0.61171	4.313518	0.99995486208824	0.48110	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.38	4.38	0.52019	2.406000	0.44210	.	.	0.599000	0.40250	0.986000	0.36153	1.000000	0.68203	0.923000	0.45890	0.0:1.0:0.0:0.0	12.634	0.56035	683	0.59664	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	7739.68	33	chr7	142940391	.	C	T	7739.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.148;DP=1318;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=0.468;SOR=0.662	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	3	0
chr7	142954267	142954267	G	A	exonic	KEL	.	nonsynonymous SNV	KEL:NM_000420:exon8:c.C841T:p.R281W,	.	.	414	1104	4	0	0	4	0.00180832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.663	P	0.716	N	1.000	N	1.1	L	-0.88	T	-0.514	T	0.297	T	0.113	2.094	12.96	-1.83	-0.151	0.025	16.453	0.216	.	0.0078	0.00519169	0.0072	0.0030	0.0053	0.0001	0.0059	0.0105	0.0099	0.0016	0.0074191	1147	154602	rs8176059	0.0096	0.0096	0.0098	0.0093	0.0108	0.0094	0.0094	0.0106	0.0105	0.0015	0.0050	0.0231	0.0002	0.0059	0.0035	0.0108	0.0097	0.0022	0.0068	0.0068	0.0074	0.0062	0.0102	0.0065	0.0063	0.0096	0.0093	0.0021	0	0.0054	0.0164	0	0.0072	0.0068	0.0102	0.0114	0.0029	0.011	0.55530	D	0.017	0.60337	D	0.998	0.73220	D	0.663	0.52893	P	0.715978	0.06285	N	1.168140	1	0.08975	N	1.95	0.52479	M	-0.88	0.74689	T	-4.58	0.78807	D	0.341	0.38232	-0.5142	0.68132	T	0.297	0.66801	T	10	0.042672545	0.03039	T	.	.	.	0.216	0.50959	.	.	0.77929513315	0.77725	0.4209071790137808	0.42006	0.31947242	0.34145	0.179167568684	0.00086	T	0.635929	0.88775	D	-0.484595	0.00696	T	-0.458476	0.26767	T	0.0739271724869558	0.09191	T	0.666633	0.27564	T	0.4332853	0.62967	0.27481008	0.53412	0.4332853	0.62967	0.27481008	0.53411	-6.001	0.46288	T	.	.	0.115	0.23077	B	.	.	2.325835	0.29792	18.23	0.9942403056033069	0.63935	0.06808	0.12832	N	AEFBCI	0.321661	0.42439	N	-0.665955217637503	0.16996	0.8709133	-0.845029184519071	0.13407	0.6953354	0.0910755204390798	0.16126	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	6.07	-1.83	0.07410	0.091000	0.14885	.	.	-1.097000	0.01519	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.0:0.3244:0.6756	16.453	0.83840	670	0.60992	Peptidase M13, N-terminal domain	KEL|KEL|KEL|TRPV6|KEL|PIP	Adipose_Visceral_Omentum|Artery_Aorta|Cells_Cultured_fibroblasts|Lung|Lung|Whole_Blood	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2805.98	38	chr7	142954267	.	G	A	2805.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.84;DP=948;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=0.246;SOR=0.681	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr7	143132204	143132204	G	A	exonic	PIP	.	nonsynonymous SNV	PIP:NM_002652:exon1:c.G88A:p.D30N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.128	B	0.063	B	0.510	N	1.000	N	0.345	N	2.51	T	-1.033	T	0.025	T	0.025	2.462	14.19	4.65	2.565	1.152	13.203	0.117	0.00269260645001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.333	0.18395	T	0.128	0.27003	B	0.063	0.27082	B	0.510300	0.11851	N	0.758677	1	0.08975	N	0.695	0.17993	N	2.51	0.14284	T	-1.64	0.39314	N	0.191	0.20925	-1.0330	0.19490	T	0.025	0.10866	T	10	0.27874148	0.45444	T	0.002693	0.05521	T	0.117	0.32689	0.748	0.87905	0.250039746154	0.24611	0.1278068363436218	0.12706	0.0512664367851	0.05640	0.341203510761	0.16618	T	0.15759	0.50025	T	-0.377077	0.03250	T	-0.779421	0.02471	T	0.227196199846702	0.21817	T	0.558444	0.19458	T	0.31009823	0.53795	0.18078317	0.40900	0.31009823	0.53795	0.18078317	0.40899	-3.649	0.18568	T	.	.	0.130	0.27791	B	.	.	2.242606	0.28638	17.86	0.98039001446520635	0.37774	0.45141	0.27473	N	AEFBCI	0.058040	0.10858	N	-0.348151092618836	0.27340	1.499236	-0.253168269189072	0.29662	1.663671	0.00413325740284439	0.10430	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.65	4.65	0.57626	1.168000	0.31468	4.076000	0.41702	0.676000	0.76740	0.862000	0.30648	1.000000	0.68203	0.828000	0.39026	0.0:0.0:1.0:0.0	13.203	0.59201	826	0.39940	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1078.98	33	chr7	143132204	.	G	A	1078.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.900e-01;DP=791;ExcessHet=0.0000;FS=2.863;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.01;ReadPosRankSum=0.489;SOR=0.446	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1058	20	0	1	0
chr7	143286202	143286202	G	A	exonic	TMEM139	.	nonsynonymous SNV	TMEM139:NM_001282876:exon2:c.G245A:p.R82Q	.	.	425	1082	15	0	0	15	0.00688389	0.9988	0.954	2823279	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.27	T	0.95	P	0.211	B	0.010	N	0.744	N	1.01	L	.	.	-1.045	T	0.048	T	0.087	3.205	16.73	3.13	1.233	1.579	7.574	0.095	.	0.0019	0.00159744	0.0024	0.0008	0.0029	0	0.0002	0.0032	0.0099	0.0015	0.0023932	370	154602	rs146790657	0.0025	0.0025	0.0025	0.0026	0.0096	0.0025	0.0024	0.0075	0.0068	0.0005	0.0029	0.0052	2.519e-05	0.0002	0.0096	0.0027	0.0030	0.0019	0.0023	0.0023	0.0026	0.0021	0.0046	0.0021	0.0021	0.0038	0.0035	0.0007	0.0011	0.0046	0.0058	0	0.0002	0.0068	0.0032	0.0028	0.0017	0.15	0.24661	T	0.746	0.04877	T	0.95	0.53885	P	0.211	0.37346	B	0.009681	0.30255	N	0.225311	0.743693	0.29709	N	1.59	0.40313	L	.	.	.	-2.83	0.59710	D	0.35	0.39153	-1.0450	0.15825	T	0.048	0.20592	T	9	0.0071099997	0.00162	T	0.003285	0.07268	T	0.095	0.27398	.	.	0.0920862733494	0.08535	0.21679922710344496	0.21595	0.466230356228	0.46032	0.267926812172	0.05872	T	0.022751	0.17484	T	-0.553863	0.00276	T	-0.570152	0.15436	T	0.0173244588658675	0.00472	T	0.746125	0.36682	T	0.08172079	0.18790	0.113741964	0.27452	0.08172079	0.18790	0.113741964	0.27451	-3.329	0.14113	T	.	.	0.121	0.25034	B	.;.;.;.;.	.;.;.;.;.	4.935422	0.81403	27.5	0.99885733328785198	0.96126	0.40356	0.26418	N	AEFBCI	0.345561	0.44067	N	0.0359274567454747	0.43496	2.641381	0.0877162844269016	0.43928	2.68462	0.99990493683615	0.45458	0.549168	0.22868	0	0.547309	0.14657	0	0.590023	0.30420	0	0.613276	0.41899	0	.	.	5.0	3.13	0.35090	1.734000	0.37790	6.572000	0.55971	0.672000	0.70159	0.972000	0.34453	1.000000	0.68203	0.970000	0.54328	0.215:0.0:0.785:0.0	7.574	0.27093	840	0.37365	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1478.11	47	chr7	143286202	.	G	A	1478.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.62;DP=768;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.44;ReadPosRankSum=1.40;SOR=0.726	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1142	19	0	2	0
chr7	143342417	143342417	G	C	exonic	CLCN1	.	nonsynonymous SNV	CLCN1:NM_000083:exon16:c.G1842C:p.K614N,	Myotonia congenita, dominant, Autosomal dominant;Myotonia congenita, recessive, Autosomal recessive;Myotonia levior, recessive (3)	.	.	.	.	.	.	.	.	.	.	310061	CLCN1-related_disorder|not_provided|Congenital_myotonia,_autosomal_dominant_form|Congenital_myotonia,_autosomal_recessive_form|Batten-Turner_congenital_myopathy	.|MedGen:C3661900|MONDO:MONDO:0008055,MedGen:C2936781,OMIM:160800,Orphanet:614|MONDO:MONDO:0009715,MedGen:C0751360,OMIM:255700,Orphanet:614|MONDO:MONDO:0100468,MedGen:C0027127,OMIM:255300	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.707	P	0.409	B	0.000	D	0.999	D	1.885	L	-1.79	D	-0.259	T	0.442	T	0.257	3.124	16.44	4.94	1.468	1.850	4.592	0.410	0.0572802506424	0.0022	0.000798722	0.0014	0.0009	0.0003	0	0.0009	0.0022	0.0022	0.0001	0.0015524	240	154602	rs140205115	0.0034	0.0034	0.0036	0.0032	0.0042	0.0033	0.0033	0.0041	0.0041	0.0005	0.0002	7.652e-05	0	0.0007	0	0.0042	0.0022	0.0003	0.0018	0.0018	0.0021	0.0015	0.0036	0.0016	0.0016	0.0032	0.0031	0.0006	0	0.0003	0	0	0.0003	0	0.0036	0.0009	0	0.015	0.52492	D	0.114	0.36765	T	0.707	0.42016	P	0.409	0.44752	B	0.000349	0.45440	D	0.254123	0.998766	0.45406	D	2.1	0.58353	M	-1.79	0.83815	D	-3.28	0.65627	D	0.451	0.48872	-0.2591	0.76112	T	0.442	0.77977	T	10	0.022209048	0.00549	T	0.05728	0.66910	D	0.410	0.72176	0.618	0.75232	0.890696943311	0.88961	0.6872246774293543	0.68662	0.46802664529	0.46163	0.733019351959	0.71947	T	0.513438	0.82844	D	-0.324939	0.06501	T	-0.240367	0.50762	T	0.0335692753582847	0.02566	T	0.713829	0.32570	T	0.3273013	0.55249	0.21294194	0.45784	0.3273013	0.55249	0.21294194	0.45783	-9.899	0.73304	D	0.3401415434239293	0.43791	0.549	0.66743	A	.	.	5.682843	0.93009	33	0.99854924177416549	0.93368	0.88035	0.47790	D	AEFBI	0.424138	0.48943	N	0.273250641878504	0.54796	3.644476	0.331321798961821	0.57388	3.904412	0.98169348533504	0.30298	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.82	4.94	0.64645	1.908000	0.39537	6.722000	0.56432	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.2031:0.0:0.625:0.1719	4.592	0.11706	.	.	CBS domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	1864.98	34	chr7	143342417	.	G	C	1864.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.29;ReadPosRankSum=-2.770e-01;SOR=0.691	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr7	143382366	143382368	GGA	-	exonic	ZYX	.	nonframeshift deletion	ZYX:NM_001010972:exon3:c.327_329del:p.E112del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368962801	1.041e-05	1.026e-05	1.102e-05	9.781e-06	0.0002	6.25e-06	4.95e-06	7.913e-05	5.601e-05	0	0.0002	0	0	0	0	6.359e-06	1.686e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1119.94	39	chr7	143382365	.	TGGA	T	1119.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.171;DP=789;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.55;ReadPosRankSum=-8.800e-01;SOR=0.743	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1098	20	0	1	0
chr7	143388222	143388222	C	T	exonic	ZYX	.	nonsynonymous SNV	ZYX:NM_001362783:exon5:c.C934T:p.R312C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.952	D	0.175	U	0.998	N	1.95	M	0.56	T	-0.816	T	0.270	T	0.445	2.196	13.30	3.03	0.836	1.254	10.690	0.207	0.0401416408294	7.7e-05	0.000199681	0.0001	0	0	0	0	3.765e-05	0	0.0005	5.82e-05	9	154602	rs376325351	5.865e-05	5.883e-05	4.663e-05	7.083e-05	0.0002	4.851e-05	4.47e-05	0.0002	0.0001	0	2.372e-05	0	5.102e-05	0	0	5.064e-05	8.348e-05	0.0002	3.946e-05	3.938e-05	5.147e-05	2.69e-05	0.0002	1.717e-05	1.13e-05	1.172e-05	6.25e-06	2.411e-05	0	0	0	0.0002	0	0	4.414e-05	0	0.0002	0.023	0.54683	D	0.109	0.47336	T	1.0	0.90584	D	0.952	0.69102	D	0.175246	0.17256	U	0.408518	0.997999	0.22406	N	2.595	0.75868	M	0.56	0.57729	T	-1.82	0.42957	N	0.427	0.46649	-0.8156	0.54208	T	0.270	0.64193	T	10	0.06118104	0.07632	T	0.040142	0.59213	D	0.207	0.49555	.	.	0.480349945188	0.47665	0.5326760895979857	0.53192	0.550900486598	0.51946	0.449950456619	0.31936	T	0.128039	0.45545	T	-0.241277	0.15187	T	-0.281225	0.46680	T	0.173497511055859	0.18815	T	.	.	.	0.097180724	0.22903	0.081897	0.18649	0.097180724	0.22902	0.081897	0.18649	-5.831	0.44844	T	.	.	0.102	0.29477	B	.;.;.;.	.;.;.;.	4.160072	0.62465	24.5	0.99702314716037876	0.80729	0.40262	0.26397	N	AEFDBCI	0.060819	0.11585	N	-0.180785348852823	0.33935	1.93103	-0.296805331270278	0.28203	1.570634	0.999999813224218	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	3.92	3.03	0.34070	1.150000	0.31250	3.303000	0.37399	-0.268000	0.06776	0.183000	0.24101	1.000000	0.68203	0.730000	0.35099	0.0:0.8056:0.1943:0.0	10.690	0.45063	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	363.98	34	chr7	143388222	.	C	T	363.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.203;DP=714;ExcessHet=0.0000;FS=1.257;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.84;ReadPosRankSum=-2.000e-01;SOR=0.498	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1018	20	0	1	0
chr7	143395318	143395318	C	T	splicing	EPHA1	NM_005232:exon12:c.2083+1G>A	.	.	.	.	434	1079	9	0	0	9	0.00415321	0.9999	0.926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.403	14.00	4.83	2.669	7.583	18.479	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	.	4.788e-06	4.788e-06	4.084e-06	5.5e-06	0.0002	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.496e-06	1.656e-05	0	6.565e-06	6.562e-06	0	1.342e-05	6.538e-05	0	0	.	.	0	0	6.538e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257862	0.79330	D	0.132624	0.79062	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.298960	0.88967	29.8	0.99391022993851741	0.62337	0.99824	0.99698	D	ALL	.	.	.	1.04813472982168	0.97046	15.50854	0.84606486487251	0.92782	11.62988	1.0	0.98316	0.283894	0.04978	0	0.118412	0.03395	1	0.299256	0.05649	0	0.127494	0.03953	0	0.980302	0.85427	4.83	4.83	0.61880	7.879000	0.85694	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.320000	0.24970	0.0:1.0:0.0:0.0	18.479	0.90750	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3465.98	39	chr7	143395318	.	C	T	3465.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.18;DP=1109;ExcessHet=0.0000;FS=3.061;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.97;ReadPosRankSum=2.50;SOR=0.883	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1134	20	0	1	0
chr7	143398373	143398373	C	T	exonic	EPHA1	.	nonsynonymous SNV	EPHA1:NM_005232:exon7:c.G1412A:p.R471Q,	.	.	430	1071	20	1	0	22	0.0101664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.015	B	0.008	B	0.228	N	1.000	N	-0.135	N	0.4	T	-1.049	T	0.068	T	0.113	0.097	4.524	3.07	1.164	1.707	7.659	0.038	.	0.0020	0.00259585	0.0029	0.0003	0.0005	0	0.0002	0.0022	0.0011	0.0122	0.0028266	437	154602	rs143535859	0.0027	0.0027	0.0023	0.0031	0.0116	0.0026	0.0026	0.0110	0.0108	0.0003	0.0010	7.652e-05	7.557e-05	1.872e-05	0.0099	0.0024	0.0025	0.0116	0.0018	0.0018	0.0016	0.0019	0.0124	0.0016	0.0015	0.0099	0.0090	0.0004	0	0.0007	0	0	0	0.0136	0.0026	0.0005	0.0124	0.595	0.05720	T	0.797	0.04104	T	0.015	0.17086	B	0.008	0.13708	B	0.228235	0.15980	N	0.562825	0.999999	0.08975	N	-0.51	0.02586	N	0.4	0.57261	T	0.39	0.03521	N	0.154	0.15888	-1.0489	0.14705	T	0.068	0.27845	T	10	0.004873246	0.00104	T	.	.	.	0.038	0.09825	.	.	0.324161360171	0.32030	0.3482857113977316	0.34742	0.163144533903	0.18410	0.267599970102	0.05830	T	0.110907	0.42597	T	-0.557582	0.00262	T	-0.564309	0.15975	T	0.0108359602405479	0.00154	T	.	.	.	0.04821828	0.08370	0.040039677	0.04236	0.04821828	0.08369	0.040039677	0.04236	-4.223	0.27083	T	.	.	0.063	0.01491	B	.	.	2.164478	0.27577	17.51	0.7814562810436716	0.12174	0.24837	0.22516	N	AEFDBCI	0.077329	0.15576	N	-0.776125819730992	0.13934	0.6901381	-0.696361390555974	0.17051	0.9049153	0.999725218714266	0.42220	0.67177	0.52595	0	0.59043	0.45803	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	4.98	3.07	0.34476	0.512000	0.22461	1.726000	0.28294	0.599000	0.40250	0.003000	0.16062	0.994000	0.32194	0.078000	0.17132	0.0:0.7847:0.0:0.2152	7.659	0.27561	819	0.41190	Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2755.11	34	chr7	143398373	.	C	T	2755.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.75;DP=980;ExcessHet=0.1072;FS=1.660;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=0.021;SOR=0.577	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	19	0	2	0
chr7	143478290	143478290	A	G	exonic	TAS2R41	.	nonsynonymous SNV	TAS2R41:NM_176883:exon1:c.A418G:p.I140V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.08	B	0.074	B	0.948	N	1.000	N	1.69	L	5.65	T	-0.976	T	0.003	T	0.072	-0.179	3.127	-8.61	-1.743	-1.632	6.528	0.028	0.00241750934598	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs373019967	6.544e-06	0.0009	4.362e-06	8.725e-06	7.733e-06	3.08e-06	2.23e-06	3.33e-06	2.4e-06	0	0	0	0	1.901e-05	0	7.733e-06	0	0	0	1.985e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.412	0.14456	T	0.08	0.24543	B	0.074	0.28220	B	0.947612	0.07634	N	1.033800	1	0.08975	N	1.015	0.25427	L	5.65	0.00784	T	-0.47	0.15178	N	0.052	0.02366	-0.9758	0.35948	T	0.003	0.01092	T	10	0.07525703	0.11609	T	0.002418	0.04757	T	0.028	0.06331	0.652	0.78963	0.101711395817	0.09552	0.04758141662796776	0.04701	0.0497017490909	0.05451	0.254782557487	0.04288	T	0.002724	0.02115	T	-0.393424	0.02556	T	-0.802903	0.01831	T	0.103939465538467	0.12785	T	.	.	.	0.047795918	0.08228	0.037618708	0.03453	0.047795918	0.08227	0.037618708	0.03453	-3.217	0.12689	T	.	.	0.092	0.13503	B	.	.	-1.055815	0.00695	0.020	0.53951675314367431	0.05040	0.01208	0.04299	N	AEFBI	0.032596	0.03711	N	-1.54910637092624	0.01540	0.06726581	-1.68964110834314	0.01184	0.05327442	0.999999965671774	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.7	-8.61	0.00769	-1.143000	0.03311	-0.836000	0.07236	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.279:0.1065:0.5102:0.1042	6.528	0.21510	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4286	4409.3	115	chr7	143478290	.	A	G	4409.3	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-2.767e+00;DP=2442;ExcessHet=30.0624;FS=186.672;InbreedingCoeff=-0.7419;MLEAC=18;MLEAF=0.429;MQ=60.00;MQRankSum=0.00;QD=2.22;ReadPosRankSum=1.01;SOR=12.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:114,0:114:52:.:.:0,52,2798	3	0	18	0
chr7	143573070	143573070	G	A	exonic	CTAGE15	.	nonsynonymous SNV	CTAGE15:NM_001008747:exon1:c.G1253A:p.R418K,	.	.	563	939	17	3	0	23	0.0120989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056744420348	.	.	.	.	.	.	.	.	.	.	0.004793	741	154602	rs201837429	0.0026	0.0048	0.0025	0.0026	0.0101	0.0025	0.0025	0.0077	0.0069	0.0031	0.0025	0.0017	0.0002	0.0008	0.0101	0.0026	0.0035	0.0026	0.0060	0.0093	0.0065	0.0054	0.0082	0.0056	0.0055	0.0074	0.0071	0.0082	0	0.0050	0.0017	0.0002	0.0007	0.0208	0.0065	0.0067	0.0026	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-3.53	0.00003	N	1.06	0.39781	T	.	.	.	0.042	0.01498	.	.	.	.	.	.	.	0.0073447526	0.00167	T	0.056744	0.66716	D	.	.	.	.	0.043077524339	0.03247	0.0585398963255933	0.05794	.	.	0.503640592098	0.39335	T	0.012991	0.11321	T	-0.506164	0.00528	T	-0.556194	0.16737	T	.	.	.	.	.	.	0.11095083	0.26222	0.15343034	0.36054	0.11095083	0.26222	0.15343034	0.36053	-1.239	0.01307	T	.	.	0.065	0.01909	B	.	.	-0.312293	0.02564	0.312	0.28974062985368393	0.01514	0.00064	0.00463	N	AEFI	0.017965	0.00509	N	.	.	.	.	.	.	3.99628055112574E-6	0.01202	0.074636	0.01641	0	0.084543	0.02171	0	0.078618	0.02440	0	0.057018	0.00518	0	.	.	0.109	0.109	0.13884	0.841000	0.27267	4.414000	0.43291	-0.708000	0.03965	1.000000	0.71638	1.000000	0.68203	0.018000	0.11154	.	.	.	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05	1386.8	35	chr7	143573070	.	G	A	1386.8	.	AC=2;AF=0.050;AN=40;DP=879;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.050;MQ=38.03;QD=28.30;SOR=1.345	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1254	19	1	0	1
chr7	143756433	143756433	C	T	exonic	CTAGE6	.	nonsynonymous SNV	CTAGE6:NM_178561:exon1:c.G1226A:p.R409Q,	.	.	442	1073	7	0	0	7	0.00325128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00832379093602	.	.	1.667e-05	0	0	0	0	3.024e-05	0	0	3.84e-05	1	26028	rs779951636	3.024e-05	4.183e-05	2.188e-05	3.868e-05	0.0010	2.292e-05	2.042e-05	0.0004	0.0003	0	8.954e-05	0	2.521e-05	0	0.0010	2.438e-05	9.995e-05	1.168e-05	3.297e-05	5.922e-05	3.872e-05	2.696e-05	4.427e-05	1.264e-05	8e-06	1.175e-05	6.26e-06	2.42e-05	0	0	0	0	0	0.0034	4.427e-05	0	0	.	.	.	0.12	0.35970	T	0.474	0.36620	P	0.077	0.28532	B	.	.	.	.	.	.	.	1.72	0.44442	L	2.72	0.11947	T	.	.	.	0.066	0.03841	.	.	.	.	.	.	.	0.08006731	0.12953	T	0.008324	0.22029	T	.	.	.	.	0.0884992946249	0.08302	0.20067251948484321	0.19984	.	.	0.448425829411	0.31728	T	0.223387	0.58752	T	-0.360416	0.04107	T	-0.586361	0.13982	T	.	.	.	.	.	.	0.05425641	0.10385	0.085901186	0.19865	0.05425641	0.10385	0.085901186	0.19865	-6.679	0.51652	T	.	.	0.087	0.11076	B	.	.	0.661616	0.10298	7.033	0.40623765120772176	0.02879	0.01930	0.05886	N	AEFI	0.033322	0.03930	N	.	.	.	.	.	.	4.14699847813488E-6	0.01202	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.101684	0.03063	0	.	.	0.109	-0.218	0.12495	0.757000	0.26098	-7.368000	0.01171	-1.015000	0.01753	0.951000	0.33123	0.000000	0.08366	0.004000	0.06068	.	.	.	783	0.47268	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2192.98	33	chr7	143756433	.	C	T	2192.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.00;DP=1283;ExcessHet=0.0000;FS=1.382;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.87;MQRankSum=0.644;QD=3.85;ReadPosRankSum=8.000e-03;SOR=0.860	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1339	20	0	1	0
chr7	143756691	143756691	T	A	exonic	CTAGE6	.	nonsynonymous SNV	CTAGE6:NM_178561:exon1:c.A968T:p.K323M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00568520865731	.	.	0.0001	0	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs751523423	2.108e-05	2.194e-05	1.394e-05	2.834e-05	0.0002	1.495e-05	1.298e-05	0.0001	0.0001	0	0	0	0	0	0.0002	9.149e-06	1.701e-05	0.0002	6.757e-06	1.319e-05	0	1.386e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.009	0.66756	D	0.935	0.52277	P	0.793	0.57829	P	.	.	.	.	.	.	.	2.87	0.83286	M	3.1	0.08283	T	.	.	.	0.209	0.23253	.	.	.	.	.	.	.	0.19384837	0.35171	T	0.005685	0.14712	T	.	.	.	.	0.0954503805726	0.09146	0.3398061969269496	0.33893	.	.	0.615320801735	0.55066	T	0.131414	0.46090	T	-0.237533	0.15665	T	-0.385985	0.35022	T	.	.	.	.	.	.	0.18260272	0.39487	0.20498052	0.44646	0.18260272	0.39487	0.20498052	0.44645	-9.999	0.73906	D	.	.	0.218	0.44834	B	.	.	2.710827	0.35433	19.90	0.66342794052760401	0.08031	0.15466	0.18925	N	AEFI	0.043717	0.06945	N	.	.	.	.	.	.	1.10342127953329E-6	0.01202	0.074636	0.01641	0	0.084543	0.02171	0	0.078618	0.02440	0	0.101684	0.03063	0	.	.	.	.	.	2.502000	0.45058	3.525000	0.38921	0.202000	0.17929	0.989000	0.36753	0.950000	0.28999	0.054000	0.15518	.	.	.	783	0.47268	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	795.0	37	chr7	143756691	.	T	A	795.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.971e+00;DP=932;ExcessHet=0.0000;FS=9.637;InbreedingCoeff=-0.0259;MLEAC=1;MLEAF=0.024;MQ=31.75;MQRankSum=-2.298e+00;QD=4.65;ReadPosRankSum=-7.780e-01;SOR=0.433	GT:AD:DP:GQ:PL	0/1:127,44:171:99:809,0,3489	20	0	1	0
chr7	143960479	143960479	G	C	exonic	OR2F1	.	nonsynonymous SNV	OR2F1:NM_012369:exon1:c.G509C:p.R170T,	.	.	420	1095	6	1	0	8	0.00363967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.0	B	0.0	B	0.536	N	1.000	N	0.41	N	1.23	T	-1.034	T	0.046	T	0.08	-0.645	1.156	0.236	-0.137	0.982	4.231	0.025	0.00153084040938	0.0002	0.000798722	0.0022	0.0003	0.0006	0.0001	0	0.0036	0.0044	0.0006	0.0019857	307	154602	rs151074585	0.0019	0.0019	0.0019	0.0020	0.0062	0.0019	0.0018	0.0046	0.0041	0.0003	0.0011	0.0239	0	9.36e-05	0.0062	0.0017	0.0027	0.0008	0.0019	0.0019	0.0021	0.0016	0.0024	0.0017	0.0016	0.0021	0.0020	0.0002	0.0011	0.0009	0.0248	0.0002	0	0.0136	0.0024	0.0038	0.0002	.	.	.	.	.	.	0.0	0.02946	B	0.0	0.01387	B	0.536154	0.11585	N	0.759794	1	0.08975	N	1.105	0.28596	L	.	.	.	.	.	.	.	.	-1.0343	0.19078	T	0.046	0.19680	T	10	0.004550338	0.00094	T	0.001531	0.02394	T	.	.	.	.	.	.	0.14138761019478494	0.14061	.	.	0.215875655413	0.01085	T	0.001913	0.01327	T	-0.638109	0.00085	T	-0.694924	0.06107	T	0.000408677296945825	0.00003	T	.	.	.	0.075677715	0.17066	0.046788536	0.06597	0.075677715	0.17066	0.046788536	0.06597	-4.331	0.28610	T	.	.	0.106	0.19639	B	.;.	.;.	0.155675	0.05473	1.939	0.41681102300012435	0.03023	0.08868	0.14732	N	AEFI	0.044541	0.07179	N	-1.25506687048483	0.04233	0.1906543	-1.24895860386132	0.05146	0.2445262	1.1627017477394E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.37	0.236	0.14733	0.057000	0.14157	-7.646000	0.01114	-0.895000	0.02364	0.000000	0.06391	0.000000	0.08366	0.069000	0.16583	0.2724:0.4177:0.2377:0.0722	4.231	0.10054	878	0.29785	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	4585.98	143	chr7	143960479	.	G	C	4585.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.541;DP=1192;ExcessHet=0.0000;FS=3.408;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.28;MQRankSum=-1.050e+01;QD=17.71;ReadPosRankSum=1.92;SOR=0.650	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1282	20	0	1	0
chr7	143960480	143960480	A	T	exonic	OR2F1	.	nonsynonymous SNV	OR2F1:NM_012369:exon1:c.A510T:p.R170S,	.	.	421	1094	6	1	0	8	0.00364299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	0.536	N	1.000	N	0.245	N	1.22	T	-0.972	T	0.030	T	0.104	-0.034	3.840	-10.4	-4.457	-3.877	0.452	0.065	0.000883077156626	.	0.000798722	0.0022	0.0003	0.0006	0.0001	0	0.0036	0.0044	0.0006	0.0019857	307	154602	rs61731396	0.0019	0.0019	0.0019	0.0020	0.0062	0.0019	0.0018	0.0046	0.0041	0.0003	0.0011	0.0239	0	9.36e-05	0.0062	0.0017	0.0027	0.0008	0.0019	0.0019	0.0021	0.0016	0.0024	0.0017	0.0016	0.0021	0.0020	0.0002	0.0011	0.0009	0.0248	0.0002	0	0.0136	0.0024	0.0038	0.0002	.	.	.	.	.	.	0.0	0.02946	B	0.0	0.01387	B	0.536154	0.11585	N	0.759794	1	0.08975	N	0.6	0.15550	N	.	.	.	.	.	.	.	.	-0.9720	0.36776	T	0.030	0.13023	T	10	0.0036379397	0.00066	T	8.83E-4	0.00800	T	.	.	0.454	0.51775	.	.	0.1354492096293793	0.13468	.	.	0.20867651701	0.00756	T	0.001247	0.00734	T	-0.639018	0.00084	T	-0.69623	0.06035	T	0.0144220716429688	0.00291	T	.	.	.	0.16432382	0.36632	0.056810606	0.10218	0.16432382	0.36631	0.056810606	0.10218	-3.616	0.18088	T	.	.	0.133	0.28750	B	.;.	.;.	-1.565289	0.00258	0.004	0.66386461164890254	0.08044	0.03702	0.08981	N	AEFI	0.080821	0.16347	N	-2.31939879886636	0.00041	0.001764759	-2.43342448466552	0.00033	0.001447302	0.99358201896185	0.33273	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.19	-10.4	0.00257	-5.233000	0.00165	-11.237000	0.00622	-2.651000	0.00223	0.000000	0.06391	0.000000	0.08366	0.051000	0.15275	0.2972:0.1391:0.2308:0.3329	0.452	0.00468	878	0.29785	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	4585.98	143	chr7	143960480	.	A	T	4585.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.042;DP=1192;ExcessHet=0.0000;FS=3.408;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.28;MQRankSum=-1.050e+01;QD=17.71;ReadPosRankSum=1.71;SOR=0.650	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1282	20	0	1	0
chr7	144004286	144004286	G	C	exonic	OR6B1	.	nonsynonymous SNV	OR6B1:NM_001005281:exon1:c.G290C:p.C97S,	.	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	1.0	D	0.001	U	1.000	D	4.415	H	6.7	T	-1.152	T	0.015	T	0.648	3.624	18.44	5.13	2.666	9.505	16.120	0.412	0.0152042867509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	1.0	0.97372	D	0.001112	0.40219	U	0.000000	0.999875	0.50225	D	4.28	0.98178	H	6.7	0.00500	T	-8.88	0.97901	D	0.88	0.87808	-1.1518	0.00972	T	0.015	0.05897	T	10	0.8979582	0.89153	D	0.015204	0.35793	T	0.412	0.72328	0.707	0.84327	0.866574595688	0.86527	0.47396116342436384	0.47315	0.554415092435	0.52183	0.511605262756	0.40447	T	0.066037	0.32842	T	0.0380864	0.56794	T	-0.183068	0.56237	T	0.999825298786163	0.99200	D	.	.	.	0.9629968	0.97580	0.9512263	0.98473	0.9629968	0.97580	0.9512263	0.98473	-8.312	0.63176	D	.	.	0.737	0.74485	P	.;.	.;.	4.661744	0.74412	26.2	0.99361253390864235	0.61029	0.99715	0.98907	D	AEFI	0.910883	0.86939	D	1.0353723870953	0.96733	15.07004	0.894726367665607	0.95339	13.52842	0.994402401690605	0.33622	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.13	5.13	0.69729	9.950000	0.98964	9.671000	0.81219	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	16.120	0.81156	889	0.27310	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3187.98	33	chr7	144004286	.	G	C	3187.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.290e-01;DP=982;ExcessHet=0.0000;FS=0.918;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=1.03;SOR=0.715	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1172	20	0	1	0
chr7	144110361	144110361	T	A	exonic	OR2A2	.	nonsynonymous SNV	OR2A2:NM_001005480:exon1:c.T779A:p.V260D,	.	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.578	P	0.648	P	0.456	U	0.965	N	1.515	L	1.2	T	-0.970	T	0.038	T	0.178	0.021	4.122	-3.29	-0.634	-7.973	6.675	0.062	.	0.0078	0.00559105	0.0023	0.0225	0.0022	0	0	0.0004	0.0011	0.0001	0.0021992	340	154602	rs114208499	0.0009	0.0009	0.0010	0.0009	0.0249	0.0009	0.0009	0.0235	0.0230	0.0249	0.0022	0	0	5.616e-05	0.0064	0.0002	0.0022	8.115e-05	0.0070	0.0070	0.0070	0.0071	0.0238	0.0067	0.0065	0.0225	0.0220	0.0238	0	0.0026	0	0	0	0.0136	0.0004	0.0066	0	0.225	0.18626	T	0.605	0.07816	T	0.578	0.38765	P	0.648	0.52381	P	0.456090	0.12448	U	0.594559	0.964813	0.25965	N	1.1	0.28011	L	1.2	0.37405	T	-1.44	0.35399	N	0.244	0.27554	-0.9704	0.37115	T	0.038	0.16591	T	10	0.007163614	0.00163	T	.	.	.	0.062	0.17934	.	.	0.0884992946249	0.08302	0.19533613346203557	0.19450	0.102520623548	0.11603	0.260199904442	0.04914	T	0.003736	0.03140	T	-0.604433	0.00137	T	-0.622078	0.11024	T	0.0467355559531289	0.04917	T	0.422258	0.11242	T	0.20452476	0.42564	0.3495545	0.60578	0.20452476	0.42564	0.3495545	0.60578	-7.682	0.58882	D	.	.	0.204	0.42948	B	.	.	1.161711	0.15504	11.90	0.72444375964395658	0.09976	0.02878	0.07656	N	AEFHCI	0.057098	0.10609	N	-1.13943039949835	0.05955	0.2729132	-1.36885446956267	0.03589	0.1676981	7.88403433616157E-4	0.07810	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	3.47	-3.29	0.04706	-5.771000	0.00120	-20.000000	0.00162	-0.309000	0.06099	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.2224:0.1491:0.6285	6.675	0.22275	900	0.24599	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2217.98	86	chr7	144110361	.	T	A	2217.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.482e+00;DP=1321;ExcessHet=0.0000;FS=3.531;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.73;MQRankSum=2.20;QD=12.90;ReadPosRankSum=-1.531e+00;SOR=0.475	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1302	20	0	1	0
chr7	144184229	144184229	T	A	exonic	CTAGE4;CTAGE8	.	nonsynonymous SNV	CTAGE8:NM_001278507:exon1:c.T726A:p.N242K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.254	B	0.139	B	.	.	1.000	N	2.7	M	1.34	T	-0.947	T	0.103	T	0.02	-0.202	3.021	.	0.129	-0.162	2.884	0.066	0.00135166170972	.	.	1.014e-05	0	0	0	0	1.8e-05	0	0	3.84e-05	1	26028	rs755715670	4.246e-06	4.176e-06	5.636e-06	2.843e-06	5.56e-06	1.53e-06	1e-06	2e-06	1.31e-06	0	0	0	0	0	0	5.56e-06	0	0	0	6.974e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.09	0.31987	T	0.039	0.51112	D	0.254	0.31272	B	0.139	0.33484	B	.	.	.	.	1	0.08975	N	2.5	0.72771	M	1.34	0.34841	T	-2.9	0.60827	D	0.21	0.23380	-0.9474	0.41414	T	0.103	0.37894	T	8	0.13958481	0.26538	T	0.001352	0.01936	T	0.066	0.19193	0.248	0.18447	0.369309618794	0.36543	0.07207813145129931	0.07144	.	.	0.618998289108	0.55588	T	0.102705	0.41069	T	-0.360377	0.04109	T	-0.685595	0.06647	T	0.144584093388123	0.16663	T	0.779322	0.41328	T	0.16605155	0.36916	0.14269619	0.33939	0.16605155	0.36915	0.14269619	0.33938	-6.341	0.49047	T	.	.	0.193	0.41310	B	.	.	1.358724	0.17673	13.30	0.51605724612386916	0.04593	0.00131	0.00809	N	AEI	0.031641	0.03423	N	-0.766572269902481	0.14187	0.7047054	-0.966634048326421	0.10540	0.531471	9.4109173768131E-6	0.01202	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	.	.	.	0.423000	0.21032	-1.183000	0.06091	0.220000	0.18069	0.998000	0.41325	0.000000	0.08366	0.145000	0.20128	0.0:0.0:0.4925:0.5075	2.884	0.05307	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	1298.53	36	chr7	144184229	.	T	A	1298.53	.	AC=1;AF=0.025;AN=40;BaseQRankSum=4.25;DP=916;ExcessHet=0.0000;FS=6.162;InbreedingCoeff=-0.0325;MLEAC=1;MLEAF=0.025;MQ=31.61;MQRankSum=-4.220e-01;QD=4.42;ReadPosRankSum=1.69;SOR=0.525	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	19	0	1	1
chr7	144187123	144187123	G	C	exonic	ARHGEF35	.	nonsynonymous SNV	ARHGEF35:NM_001003702:exon2:c.C1261G:p.L421V	.	.	441	1064	17	0	0	17	0.00792541	.	.	2823292	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.36	T	0.0	B	0.001	B	.	.	1.000	N	0.975	L	.	.	-1.032	T	0.057	T	0.087	0.007	4.049	-4.67	-1.282	-1.471	4.126	0.064	.	0.0030	0.00119808	0.0059	0.0014	0.0041	0.0002	0.0048	0.0100	0.0042	0.0008	0.003357	519	154602	rs200777966	0.0039	0.0042	0.0040	0.0038	0.0091	0.0038	0.0038	0.0070	0.0063	0.0009	0.0024	0.0023	5.054e-05	0.0034	0.0091	0.0045	0.0040	0.0009	0.0027	0.0031	0.0030	0.0024	0.0044	0.0025	0.0024	0.0040	0.0038	0.0009	0	0.0015	0.0030	0	0.0024	0.0072	0.0044	0.0060	0.0004	0.112	0.28900	T	0.72	0.05345	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.385	0.34509	L	.	.	.	-1.72	0.40850	N	0.049	0.02088	-1.0317	0.19905	T	0.057	0.24092	T	8	0.004467815	0.00092	T	.	.	.	0.064	0.18567	.	.	0.0482279557977	0.04254	0.013045466199505439	0.01262	1.1666736912	0.79651	.	.	.	0.038618	0.24903	T	-0.637492	0.00086	T	-0.686432	0.06597	T	0.00445636160050083	0.00048	T	0.392661	0.09777	T	0.064548075	0.13706	0.05295596	0.08825	0.064548075	0.13705	0.05295596	0.08825	-4.147	0.25980	T	.	.	0.107	0.20196	B	.	.	-1.332221	0.00411	0.008	0.72315887758835451	0.09931	0.00603	0.02688	N	AEFI	0.056296	0.10394	N	-1.67525973034684	0.00933	0.0404088	-1.79071861659118	0.00789	0.03522002	2.65246824704526E-5	0.03498	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.620846	0.47308	0	.	.	2.34	-4.67	0.03080	-1.148000	0.03295	-0.063000	0.12399	-0.699000	0.04065	0.000000	0.06391	0.000000	0.08366	0.127000	0.19450	0.3886:0.2006:0.4109:0.0	4.126	0.09595	932	0.16191	Rho guanine nucleotide exchange factor 5/35, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	375.33	33	chr7	144187123	.	G	C	375.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.616e+00;DP=749;ExcessHet=0.0000;FS=5.442;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=47.09;MQRankSum=1.65;QD=5.52;ReadPosRankSum=2.06;SOR=1.497	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	19	0	1	1
chr7	144187825	144187825	C	G	exonic	ARHGEF35	.	nonsynonymous SNV	ARHGEF35:NM_001003702:exon2:c.G559C:p.E187Q	.	.	612	876	28	3	3	37	0.019037	.	.	2337684	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.979	D	0.569	P	.	.	1.000	N	0.46	N	.	.	-1.051	T	0.050	T	0.061	0.785	8.139	-0.617	-0.295	-1.337	5.246	0.066	0.00169180372267	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs201944335	0.0064	0.0077	0.0062	0.0067	0.0139	0.0063	0.0062	0.0106	0.0094	0.0013	0.0022	0.0056	2.667e-05	0.0096	0.0139	0.0072	0.0067	0.0056	0.0051	0.0057	0.0047	0.0055	0.0070	0.0047	0.0045	0.0063	0.0061	0.0013	0.0031	0.0014	0.0081	0	0.0116	0.0165	0.0070	0.0068	0.0041	0.119	0.28026	T	0.0	0.92824	D	0.979	0.59044	D	0.569	0.49832	P	.	.	.	.	1	0.08975	N	0.115	0.08564	N	.	.	.	-1.12	0.28906	N	0.056	0.02759	-1.0508	0.14175	T	0.050	0.21143	T	8	0.0052297115	0.00114	T	0.001692	0.02805	T	0.066	0.19193	.	.	0.0611884634855	0.05136	0.012538113747808237	0.01212	1.20996141533	0.80807	.	.	.	0.027401	0.20077	T	-0.324106	0.06567	T	-0.703332	0.05646	T	0.0263475960612305	0.01452	T	0.441056	0.12198	T	0.04931713	0.08737	0.02897034	0.01186	0.04931713	0.08736	0.02897034	0.01186	-3.608	0.17973	T	.	.	0.142	0.31253	B	.	.	0.000811	0.04287	1.074	0.82756175661562648	0.14358	0.02487	0.06962	N	AEFI	0.047717	0.08064	N	-0.732376235384541	0.15117	0.7590086	-0.930539775724398	0.11375	0.5791232	1.16699438665459E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	2.63	-0.617	0.10999	-0.845000	0.04448	-0.671000	0.07934	-0.809000	0.03084	0.000000	0.06391	0.000000	0.08366	0.144000	0.20092	0.0:0.5001:0.0:0.4999	5.246	0.14812	932	0.16191	Rho guanine nucleotide exchange factor 5/35, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	264.98	12	chr7	144187825	.	C	G	264.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.971;DP=560;ExcessHet=0.0000;FS=3.821;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=25.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=1.09;SOR=0.223	GT:AD:DP:GQ:PL	0/0:33,0:33:90:0,90,1350	20	0	1	0
chr7	144232832	144232832	-	T	exonic	OR2A42	.	frameshift insertion	OR2A42:NM_001001802:exon1:c.11dupA:p.N4Kfs*169,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245391639	8.48e-05	7.211e-05	6.773e-05	9.99e-05	0.0006	6.387e-05	5.621e-05	0.0001	7.838e-05	0	3.898e-05	0	0	0	0.0006	0.0001	0.0002	0	7.051e-05	6.592e-05	6.86e-05	7.254e-05	0.0001	3.759e-05	2.892e-05	6.095e-05	4.422e-05	0	0	0	0	0	0	0.0036	0.0001	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	237.3	34	chr7	144232832	.	A	AT	237.3	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.325e+00;DP=655;ExcessHet=0.0000;FS=14.114;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=27.00;MQRankSum=0.00;QD=5.16;ReadPosRankSum=0.213;SOR=0.045	GT:AD:DP:GQ:PL	0/0:32,0:32:93:0,93,1395	19	0	1	1
chr7	144267145	144267145	T	G	exonic	CTAGE4;CTAGE8	.	nonsynonymous SNV	CTAGE8:NM_001278507:exon1:c.A2106C:p.R702S	.	.	451	1070	1	0	0	1	0.000467071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.009	B	0.022	B	.	.	1.000	N	.	.	3.25	T	-0.936	T	0.008	T	0.071	-0.936	0.368	.	-1.811	0.728	.	0.046	0.727580549847	.	.	.	.	.	.	.	.	.	.	0.0034578	90	26028	rs1169136753	0.0005	0.0008	0.0005	0.0005	0.0031	0.0004	0.0004	0.0026	0.0024	0.0031	0.0003	0	0.0006	1.94e-05	0	0.0004	0.0005	0.0010	0.0010	0.0014	0.0010	0.0010	0.0027	0.0009	0.0008	0.0023	0.0021	0.0027	0	0.0003	0	0.0004	0	0	0.0004	0.0020	0.0009	0.137	0.25979	T	0.783	0.04288	T	0.009	0.15093	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	2.81	0.81869	M	3.25	0.06762	T	-2.42	0.53096	N	0.155	0.16028	-0.9361	0.43226	T	0.008	0.02968	T	6	0.09432128	0.16761	T	0.727581	0.97804	D	0.046	0.12618	0.322	0.30226	0.0551355673512	0.04727	0.3721818714081183	0.37132	.	.	0.475766330957	0.35474	T	0.116992	0.43674	T	-0.332323	0.05938	T	-0.715135	0.05033	T	0.0265031836600452	0.01474	T	.	.	.	0.20774546	0.42990	0.15991935	0.37272	0.20774546	0.42990	0.15991935	0.37272	-4.718	0.33622	T	.	.	0.175	0.38300	B	.	.	0.661331	0.10298	7.030	0.37538192384511321	0.02479	0.01715	0.05438	N	AEFI	0.064877	0.12623	N	-1.5652817813879	0.01447	0.06314522	-1.65249958744843	0.01363	0.06155139	1.13847132622797E-5	0.02871	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	.	.	.	0.110000	0.15273	-0.058000	0.12460	-2.532000	0.00253	0.984000	0.35821	0.000000	0.08366	0.001000	0.02609	.	.	.	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	270.71	63	chr7	144267145	.	T	G	270.71	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.208e+00;DP=845;ExcessHet=0.0000;FS=23.633;InbreedingCoeff=-0.0270;MLEAC=1;MLEAF=0.026;MQ=35.22;MQRankSum=-2.999e+00;QD=4.10;ReadPosRankSum=-1.364e+00;SOR=3.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1398	18	0	1	2
chr7	144267434	144267434	C	T	exonic	CTAGE4;CTAGE8	.	nonsynonymous SNV	CTAGE8:NM_001278507:exon1:c.G1817A:p.R606K	.	.	585	923	13	1	0	15	0.00806018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.045	B	0.06	B	.	.	1.000	N	.	.	1.27	T	-1.010	T	0.059	T	0.039	0.027	4.156	.	0.172	0.344	.	0.006	0.615759826474	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1355417379	0.0036	0.0083	0.0035	0.0038	0.0052	0.0035	0.0035	0.0047	0.0045	0.0012	0.0043	0.0060	0.0010	0.0079	0.0029	0.0034	0.0042	0.0052	0.0099	0.0089	0.0095	0.0103	0.0138	0.0092	0.0089	0.0126	0.0122	0.0042	0	0.0041	0.0119	0	0.0176	0.0056	0.0138	0.0056	0.0050	0.129	0.26852	T	0.505	0.11004	T	0.045	0.21781	B	0.06	0.26717	B	.	.	.	.	1	0.08975	N	1.925	0.51371	L	1.27	0.36146	T	-1.52	0.36980	N	0.115	0.10340	-1.0103	0.26823	T	0.059	0.24612	T	6	0.010598272	0.00235	T	0.61576	0.96659	D	0.006	0.00375	.	.	.	.	0.3528594988450647	0.35199	.	.	0.469817906618	0.34654	T	0.027912	0.20337	T	-0.647227	0.00075	T	-0.681523	0.06892	T	0.0048122386009227	0.00052	T	.	.	.	0.14141984	0.32587	0.09772348	0.23272	0.14141984	0.32587	0.09772348	0.23272	-4.882	0.35532	T	.	.	0.103	0.18289	B	.	.	1.167062	0.15563	11.94	0.77060859291050832	0.11720	0.00158	0.00946	N	AEFI	0.056197	0.10370	N	-1.05393109875019	0.07510	0.3491371	-1.21576128511754	0.05656	0.2701088	1.10942770519523E-6	0.01202	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	.	.	.	1.018000	0.29604	-0.444000	0.09141	0.207000	0.17954	0.790000	0.29595	0.000000	0.08366	0.007000	0.07825	.	.	.	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02778	94.14	25	chr7	144267434	.	C	T	94.14	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.390e-01;DP=337;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0296;MLEAC=1;MLEAF=0.028;MQ=36.68;MQRankSum=1.49;QD=4.71;ReadPosRankSum=-8.040e-01;SOR=0.083	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:21,0:21:60:.:.:0,60,900	17	0	1	3
chr7	144267438	144267438	G	A	exonic	CTAGE4;CTAGE8	.	nonsynonymous SNV	CTAGE8:NM_001278507:exon1:c.C1813T:p.R605C	.	.	589	918	14	1	0	16	0.00863931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.011	B	0.008	B	.	.	1.000	N	.	.	0.92	T	-1.046	T	0.054	T	0.076	-1.347	0.029	.	-1.351	-0.095	.	0.032	0.602398931527	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1285785368	0.0035	0.0084	0.0033	0.0037	0.0049	0.0034	0.0033	0.0045	0.0043	0.0013	0.0045	0.0059	0.0012	0.0077	0.0033	0.0032	0.0042	0.0049	0.0092	0.0086	0.0086	0.0099	0.0129	0.0085	0.0082	0.0118	0.0113	0.0038	0	0.0035	0.0118	0	0.0171	0	0.0129	0.0042	0.0052	0.128	0.26965	T	0.097	0.39190	T	0.011	0.15914	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	0.58	0.15352	N	0.92	0.44461	T	-3.58	0.69118	D	0.049	0.02088	-1.0461	0.15505	T	0.054	0.23034	T	6	0.0131985545	0.00281	T	0.602399	0.96503	D	0.032	0.07718	.	.	.	.	0.32214072768845226	0.32127	.	.	0.462245970964	0.33619	T	0.144367	0.48095	T	-0.660256	0.00063	T	-0.695426	0.06079	T	0.00557284860081136	0.00061	T	.	.	.	0.06297486	0.13212	0.110203415	0.26570	0.06297486	0.13212	0.110203415	0.26569	-8.692	0.65693	D	.	.	0.100	0.17317	B	.	.	0.458262	0.08281	5.026	0.58528631597236658	0.06014	0.00098	0.00638	N	AEFI	0.042510	0.06605	N	-1.52366014602917	0.01695	0.07417858	-1.67080265389584	0.01272	0.05735384	3.98302209556076E-6	0.01202	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	.	.	.	0.330000	0.19460	-0.070000	0.12310	-2.425000	0.00287	0.071000	0.22100	0.000000	0.08366	0.003000	0.05239	.	.	.	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02778	65.14	24	chr7	144267438	.	G	A	65.14	.	AC=1;AF=0.028;AN=36;BaseQRankSum=3.54;DP=312;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0297;MLEAC=1;MLEAF=0.028;MQ=35.95;MQRankSum=1.32;QD=3.43;ReadPosRankSum=-1.680e-01;SOR=0.054	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:21,0:21:60:.:.:0,60,900	17	0	1	3
chr7	144363102	144363102	A	G	exonic	ARHGEF5	.	nonsynonymous SNV	ARHGEF5:NM_005435:exon2:c.A433G:p.S145G,	.	.	566	953	3	0	0	3	0.0015715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	B	0.005	B	0.554	N	1.000	N	0.805	L	-1.17	T	-0.959	T	0.217	T	0.061	0.302	5.634	1.16	0.057	0.937	2.782	0.065	0.0123671040825	.	.	0.0024	0.0045	0.0027	0.0050	0	0.0011	0.0027	0.0041	0.0001537	4	26028	rs767354802	0.0001	0.0005	0.0001	0.0001	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0.0001	3.845e-05	2.524e-05	3.915e-05	0.0005	0.0001	0.0001	0.0001	0.0003	0.0007	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0003	0.0006	0	0.0002	0	0.0002	0	0	0.0002	0.0006	0.0002	0.364	0.11770	T	0.8	0.04066	T	0.02	0.18235	B	0.005	0.11217	B	0.553654	0.11410	N	0.723471	1	0.08975	N	0.895	0.22405	L	-1.17	0.78199	T	-0.68	0.19509	N	0.057	0.02861	-0.9589	0.39386	T	0.217	0.57902	T	9	0.006443292	0.00146	T	0.012367	0.30882	T	0.065	0.18881	.	.	0.675195094354	0.67244	0.08238694882708382	0.08173	.	.	0.296452790499	0.09874	T	0.047854	0.27844	T	-0.183676	0.23190	T	-0.501614	0.22181	T	0.00284122819720242	0.00030	T	0.325967	0.06723	T	0.045406897	0.07428	0.025975073	0.00663	0.045406897	0.07428	0.025975073	0.00663	-3.534	0.16911	T	.	.	0.063	0.01387	B	.	.	0.644740	0.10131	6.876	0.70561980681994707	0.09336	0.02033	0.06093	N	AEFI	0.052758	0.09447	N	-0.999260516698642	0.08620	0.4048551	-1.04787461803277	0.08752	0.4318119	1.42401157377093E-6	0.01202	0.693126	0.56070	0	0.633656	0.55848	0	0.659464	0.59346	0	0.620846	0.47308	0	.	.	3.63	1.16	0.19936	1.185000	0.31675	0.914000	0.22651	0.658000	0.54486	0.014000	0.18986	0.001000	0.17328	0.002000	0.04165	0.6542:0.0:0.1249:0.2209	2.782	0.05035	959	0.08690	Rho guanine nucleotide exchange factor 5/35, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	85.98	35	chr7	144363102	.	A	G	85.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.980e-01;DP=659;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=31.02;MQRankSum=-1.071e+00;QD=3.44;ReadPosRankSum=-8.910e-01;SOR=0.859	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	20	0	1	0
chr7	144363796	144363796	C	T	exonic	ARHGEF5	.	nonsynonymous SNV	ARHGEF5:NM_005435:exon2:c.C1127T:p.A376V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	B	0.006	B	.	.	1.000	N	0	N	-0.8	T	-1.012	T	0.146	T	0.033	1.452	10.80	-0.312	-0.248	0.677	5.103	0.063	0.0182039010771	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1342949112	3.829e-05	5.082e-05	3.888e-05	3.771e-05	0.0002	2.987e-05	2.709e-05	8.223e-05	5.674e-05	0.0002	2.321e-05	0	2.536e-05	0	0.0002	2.961e-05	0.0001	5.925e-05	3.957e-05	8.208e-05	3.074e-05	4.893e-05	0.0001	1.557e-05	9.4e-06	3.948e-05	2.35e-05	0.0001	0	0	0	0	0	0	1.766e-05	0	0	0.214	0.19361	T	0.725	0.05256	T	0.024	0.19075	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	-0.8	0.73845	T	-0.13	0.08971	N	0.035	0.01004	-1.0119	0.26322	T	0.146	0.47038	T	8	0.047355354	0.04042	T	0.018204	0.40183	T	0.063	0.18251	0.133	0.03747	0.418718287753	0.41490	0.05171677565109244	0.05113	.	.	0.260341495275	0.04931	T	0.048799	0.28122	T	-0.470122	0.00849	T	-0.591108	0.13569	T	0.00704596594427798	0.00080	T	0.517048	0.16713	T	0.021359002	0.00734	0.03588838	0.02927	0.021359002	0.00734	0.03588838	0.02927	-3.465	0.15945	T	.	.	0.092	0.13362	B	.	.	1.149927	0.15382	11.81	0.94898576261921297	0.25749	0.02780	0.07486	N	AEFI	0.060387	0.11473	N	-1.3026307795353	0.03645	0.1632025	-1.32459130455835	0.04114	0.1933937	1.11000989140249E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	3.6	-0.312	0.12125	0.640000	0.24394	1.226000	0.25010	-0.228000	0.07776	0.053000	0.21524	0.157000	0.23230	0.001000	0.02609	0.5402:0.3565:0.1033:0.0	5.103	0.14100	958	0.09170	Rho guanine nucleotide exchange factor 5/35, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	356.34	38	chr7	144363796	.	C	T	356.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.246;DP=817;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=33.70;MQRankSum=-7.600e-02;QD=5.16;ReadPosRankSum=-6.420e-01;SOR=0.804	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,108,1620	19	0	1	1
chr7	144364052	144364052	G	T	exonic	ARHGEF5	.	nonsynonymous SNV	ARHGEF5:NM_005435:exon2:c.G1383T:p.Q461H,	.	.	548	973	1	0	0	1	0.000513611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.838	P	0.339	B	0.580	U	1.000	N	1.59	L	-1.23	T	-0.780	T	0.311	T	0.065	2.380	13.92	-0.659	-0.260	-0.236	3.818	0.248	0.0293402177483	.	0.000599042	0.0002	0	0	0	0	0	0	0.0013	0.0001153	3	26028	rs554856476	0.0001	0.0002	7.927e-05	0.0002	0.0020	0.0001	0.0001	0.0017	0.0016	0	0	0	0	0	0	0	0.0001	0.0020	6.985e-05	9.018e-05	2.251e-05	0.0001	0.0021	3.005e-05	2.044e-05	0.0009	0.0006	0	0	0	0	0	0	0	0	0	0.0021	0.001	0.78490	D	0.134	0.34241	T	0.838	0.46404	P	0.339	0.42346	B	0.580438	0.05532	U	1.349510	1	0.08975	N	1.65	0.42232	L	-1.23	0.78860	T	-2.0	0.46146	N	0.095	0.07535	-0.7797	0.56320	T	0.311	0.68166	T	9	0.015687436	0.00329	T	0.02934	0.51865	D	0.248	0.55615	0.136	0.04008	0.737386399311	0.73503	0.21280335488839913	0.21196	.	.	0.276250779629	0.06975	T	0.107994	0.42066	T	-0.162616	0.26359	T	-0.471363	0.25369	T	0.0476277368297337	0.05078	T	0.420658	0.11177	T	0.17788433	0.38779	0.10824326	0.26072	0.17788433	0.38778	0.10824326	0.26072	-3.994	0.23714	T	.	.	0.16	0.35372	B	.	.	0.874594	0.12478	9.008	0.99284181349579415	0.58008	0.07593	0.13604	N	AEFI	0.056617	0.10481	N	-0.654232539350714	0.17337	0.8912614	-0.853583058617184	0.13202	0.6835594	1.17133382413696E-6	0.01202	0.638212	0.43195	0	0.633656	0.55848	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	3.68	-0.659	0.10851	-0.200000	0.09480	0.253000	0.16451	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.3421:0.1838:0.474:0.0	3.818	0.08337	958	0.09170	Rho guanine nucleotide exchange factor 5/35, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	632.71	42	chr7	144364052	.	G	T	632.71	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.069e+00;DP=726;ExcessHet=0.0000;FS=3.520;InbreedingCoeff=-0.0270;MLEAC=1;MLEAF=0.026;MQ=37.89;MQRankSum=-2.220e-01;QD=17.10;ReadPosRankSum=0.382;SOR=0.256	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,108,1620	18	0	1	2
chr7	144371322	144371322	G	T	splicing	ARHGEF5	NM_005435:exon6:c.3692+1G>T	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.853	15.50	4.97	2.479	8.842	16.064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1353095126	9.292e-06	2.465e-05	8.557e-06	1.003e-05	0.0002	5.19e-06	4e-06	0.0001	7.379e-05	0	0	0	0.0002	0	0	4.723e-06	0	0	7.25e-06	3.309e-05	0	1.499e-05	1.578e-05	0	0	.	.	0	0	0	0	0	0	0	1.578e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309827	0.83734	D	0.207268	0.83523	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.569089	0.92204	32	0.99480854601628144	0.66850	0.99777	0.99392	D	AEFI	.	.	.	1.08894240060588	0.97924	17.04228	0.902735623289106	0.95690	13.86934	0.997347327996303	0.35520	0.262962	0.04601	0	0.304816	0.05638	0	0.083675	0.02720	0	0.057018	0.00518	0	0.972085	0.74386	4.97	4.97	0.65419	9.602000	0.97623	11.865000	0.98423	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.714000	0.34579	0.0:0.0:1.0:0.0	16.064	0.80667	949	0.11373	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	42.98	37	chr7	144371322	.	G	T	42.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.00;DP=804;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=26.86;MQRankSum=0.498;QD=1.26;ReadPosRankSum=-8.520e-01;SOR=0.039	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr7	144372351	144372351	G	A	exonic	ARHGEF5	.	nonsynonymous SNV	ARHGEF5:NM_005435:exon8:c.G3898A:p.V1300I,	.	.	532	984	6	0	0	6	0.00303951	.	.	2678707	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.73	T	0.004	B	0.009	B	0.040	N	0.568	N	0.76	N	-0.04	T	-0.951	T	0.105	T	0.093	0.041	4.226	-6.81	-1.371	-0.258	14.051	0.066	0.0125431876207	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1360049836	0.0002	0.0002	0.0002	0.0003	0.0014	0.0002	0.0002	0.0011	0.0010	7.476e-05	4.119e-05	6.752e-05	0.0003	0	0.0014	8.845e-05	0.0001	0.0013	9.735e-05	0.0002	7.78e-05	0.0001	0.0006	5.579e-05	4.387e-05	0.0001	5.016e-05	0	0	0	0	0.0002	0.0001	0	0.0001	0	0.0006	1.0	0.06482	T	0.523	0.12037	T	0.003	0.11197	B	0.004	0.10090	B	0.039511	0.24162	N	0.393295	0.567638	0.32266	D	1.18	0.29980	L	-0.04	0.63240	T	-0.21	0.10308	N	0.055	0.02658	-0.9509	0.40816	T	0.105	0.38440	T	10	0.031908303	0.01333	T	0.012543	0.31203	T	0.066	0.19193	0.392	0.41606	0.0762999501168	0.06990	0.17734939976054376	0.17653	.	.	0.30649253726	0.11377	T	0.076497	0.35433	T	-0.225587	0.17238	T	-0.561816	0.16208	T	0.0112066081597362	0.00164	T	0.815218	0.46991	T	0.017701847	0.00296	0.036302824	0.03051	0.017701847	0.00295	0.036302824	0.03050	-4.985	0.40259	T	.	.	0.061	0.04080	B	.;.	.;.	0.093921	0.04970	1.534	0.71549851739419357	0.09667	0.06998	0.13024	N	AEFI	0.055331	0.10138	N	-1.37692283568445	0.02855	0.126691	-1.35868452357163	0.03705	0.1733548	2.08366695399891E-4	0.05948	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	4.89	-6.81	0.01543	-0.010000	0.12681	-0.851000	0.07178	-0.712000	0.03928	0.001000	0.13787	0.000000	0.08366	0.989000	0.64315	0.3496:0.0:0.6504:0.0	14.051	0.64261	951	0.11083	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	169.36	11	chr7	144372351	.	G	A	169.36	.	AC=1;AF=0.025;AN=40;BaseQRankSum=3.44;DP=281;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0270;MLEAC=1;MLEAF=0.025;MQ=27.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=0.763;SOR=0.836	GT:AD:DP:GQ:PL	0/0:8,0:8:24:0,24,267	19	0	1	1
chr7	144372732	144372732	C	G	exonic	ARHGEF5	.	nonsynonymous SNV	ARHGEF5:NM_005435:exon9:c.C4025G:p.T1342R,	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.998	D	0.000	D	1.000	D	1.84	L	-0.01	T	-0.238	T	0.394	T	0.722	2.993	15.98	5.1	2.369	2.356	15.998	0.118	0.0401798215665	.	.	0.0002	0	0	0	0	0.0003	0	0.0001	7.68e-05	2	26028	rs768010897	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	3.823e-05	0.0001	0	0	1.981e-05	0.0004	0.0002	0.0003	7.667e-05	0.0002	0.0002	0.0001	0.0003	0.0004	0.0001	0.0001	0.0003	0.0002	0	0	6.895e-05	0	0	0	0	0.0004	0.0005	0	0.01	0.56456	D	0.004	0.74150	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.054020	0.999992	0.58761	D	1.82	0.47800	L	-0.01	0.62762	T	-5.36	0.85844	D	0.49	0.55106	-0.2382	0.76673	T	0.394	0.74721	T	10	0.41921288	0.56749	T	0.04018	0.59230	D	0.305	0.62620	.	.	0.587478218395	0.58422	0.5223530329725662	0.52158	.	.	0.645584642887	0.59358	T	0.345795	0.71414	T	0.109271	0.65277	D	-0.0808165	0.64845	T	0.425621330738068	0.29898	T	0.780822	0.41876	T	0.764501	0.81719	0.72425485	0.83713	0.764501	0.81721	0.72425485	0.83714	-12.786	0.90165	D	.	.	0.356	0.56959	A	.;.	.;.	4.316411	0.66020	24.9	0.99321492286897295	0.59393	0.96262	0.68285	D	AEFI	0.479551	0.52165	N	0.50828902998641	0.67579	5.100445	0.450848356199175	0.64771	4.740147	0.023392052881178	0.13504	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.1	5.1	0.68917	2.374000	0.43929	5.919000	0.51137	0.599000	0.40250	0.975000	0.34726	1.000000	0.68203	0.741000	0.35472	0.0:1.0:0.0:0.0	15.998	0.80063	952	0.10565	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	250.33	33	chr7	144372732	.	C	G	250.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.58;DP=774;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=30.09;MQRankSum=0.074;QD=2.61;ReadPosRankSum=0.070;SOR=0.772	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	19	0	1	1
chr7	144374835	144374835	G	A	exonic	ARHGEF5	.	nonsynonymous SNV	ARHGEF5:NM_005435:exon11:c.G4244A:p.R1415H,	.	.	462	1039	21	0	0	21	0.0100048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.997	D	0.000	D	0.980	D	1.95	M	-2.27	D	-0.440	T	0.348	T	0.472	2.604	14.67	5.56	2.627	6.880	17.092	0.255	.	.	.	0.0080	0.0013	0.0042	0.0026	0.0110	0.0105	0.0071	0.0092	0.0006147	16	26028	rs200961550	0.0043	0.0063	0.0044	0.0043	0.0075	0.0042	0.0041	0.0052	0.0049	0.0009	0.0014	0.0017	0.0024	0.0047	0.0075	0.0051	0.0042	0.0026	0.0039	0.0061	0.0039	0.0039	0.0059	0.0037	0.0035	0.0054	0.0052	0.0011	0.0071	0.0017	0.0027	0.0025	0.0065	0.0075	0.0059	0.0028	0.0035	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.979904	0.39610	D	2.075	0.57047	M	-2.27	0.87433	D	-4.2	0.77965	D	0.296	0.33469	-0.4397	0.70740	T	0.348	0.71265	T	10	0.012568891	0.00270	T	.	.	.	0.561	0.82003	.	.	0.824091401722	0.82242	0.5768530586280034	0.57614	.	.	0.68102478981	0.64415	T	0.35032	0.71805	T	0.117721	0.66143	D	-0.0686785	0.65721	T	0.0219139906017615	0.00899	T	0.929907	0.74113	D	0.5335882	0.69034	0.41468868	0.65605	0.5335882	0.69035	0.41468868	0.65605	-9.133	0.68549	D	.	.	0.364	0.57460	A	.;.	.;.	5.639534	0.92734	33	0.99912501162681988	0.98167	0.90887	0.52449	D	AEFI	0.618592	0.60434	D	0.247242073902422	0.53501	3.518827	0.236437274447454	0.51882	3.366989	0.0191690049949025	0.13135	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.56	5.56	0.83678	5.211000	0.65052	11.857000	0.98226	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.462000	0.28163	0.0:0.0:1.0:0.0	17.092	0.86500	953	0.10115	Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025	90.34	22	chr7	144374835	.	G	A	90.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.70;DP=492;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0257;MLEAC=1;MLEAF=0.025;MQ=26.84;MQRankSum=0.605;QD=2.82;ReadPosRankSum=-1.300e+00;SOR=0.090	GT:AD:DP:GQ:PL	0/0:15,0:15:33:0,33,495	19	0	1	1
chr7	144401436	144401436	C	T	exonic	NOBOX	.	nonsynonymous SNV	NOBOX:NM_001080413:exon4:c.G454A:p.G152R,	Premature ovarian failure 5, Autosomal dominant	.	0	1510	11	1	0	13	0.00428619	.	.	310093	not_provided|Premature_ovarian_failure_5	MedGen:C3661900|MONDO:MONDO:0012689,MedGen:C1969060,OMIM:611548	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	0.949	P	0.358	B	.	.	1.000	N	0.46	N	-3.0	D	-0.261	T	0.550	D	0.179	2.064	12.86	0.654	0.183	-0.114	4.107	0.259	.	0.0028	0.00219649	0.0037	0.0016	0.0017	0	0.0106	0.0047	0.0037	0.0009	0.0034346	531	154602	rs201806397	0.0040	0.0040	0.0041	0.0039	0.0044	0.0039	0.0039	0.0043	0.0043	0.0010	0.0018	0.0012	0	0.0083	0.0030	0.0044	0.0036	0.0009	0.0033	0.0033	0.0029	0.0038	0.0043	0.0031	0.0030	0.0039	0.0037	0.0009	0	0.0033	0.0006	0	0.0102	0.0068	0.0043	0.0043	0.0008	0.001	0.78490	D	0.017	0.60337	D	0.949	0.53761	P	0.358	0.43079	B	.	.	.	.	1	0.08975	N	1.245	0.31408	L	-3.0	0.94210	D	-2.93	0.62008	D	0.746	0.74553	-0.2611	0.76058	T	0.550	0.83513	D	9	0.009489834	0.00214	T	.	.	.	0.259	0.57090	0.232	0.16005	0.844476396585	0.84298	0.08946762915915193	0.08879	0.0441417609905	0.04759	0.287256002426	0.08524	T	0.184727	0.53748	T	-0.327444	0.06307	T	-0.242998	0.50504	T	0.0368745822133905	0.03133	T	0.542346	0.18433	T	0.105676256	0.24987	0.14734328	0.34872	0.10388156	0.24555	0.10965823	0.26431	-3.932	0.23548	T	0.16998417472848876	0.21346	0.134	0.36113	B	.;.;.	.;.;.	0.887936	0.12611	9.139	0.98033548230941203	0.37728	0.02552	0.07081	N	AEFDBI	0.054288	0.09858	N	-0.596101448186418	0.19063	0.9947453	-0.736919363533572	0.16044	0.8469026	2.94051453047282E-4	0.06406	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	4.61	0.654	0.17006	-0.102000	0.10926	-0.795000	0.07398	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5245:0.1751:0.3004	4.107	0.09513	955	0.09969	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1574.98	34	chr7	144401436	.	C	T	1574.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.21;DP=827;ExcessHet=0.0000;FS=3.476;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.06;ReadPosRankSum=0.661;SOR=0.436	GT:AD:DP:GQ:PL	0/1:54,58:112:99:1589,0,1292	20	0	1	0
chr7	148383806	148383806	G	A	exonic	CNTNAP2	.	unknown	UNKNOWN,	Cortical dysplasia-focal epilepsy syndrome;Pitt-Hopkins like syndrome 1	.	0	1472	48	2	0	52	0.0173565	.	.	101468	Inborn_genetic_diseases|not_specified|Cortical_dysplasia-focal_epilepsy_syndrome|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0012400,MedGen:C2750246,OMIM:610042,Orphanet:163681,Orphanet:221150|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0086	0.00539137	0.0086	0.0017	0.0016	0	0.0074	0.0100	0.0112	0.0169	0.0082793	1280	154602	rs138477292	0.0090	0.0090	0.0087	0.0093	0.0168	0.0089	0.0088	0.0161	0.0158	0.0012	0.0023	0.0014	0	0.0086	0.0101	0.0095	0.0078	0.0168	0.0064	0.0064	0.0066	0.0062	0.0161	0.0061	0.0059	0.0133	0.0122	0.0017	0.0340	0.0025	0.0014	0.0002	0.0065	0.0102	0.0098	0.0076	0.0161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	1	0.02381	802.98	33	chr7	148383806	.	G	A	802.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.440e-01;DP=776;ExcessHet=0.0000;FS=5.843;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.56;ReadPosRankSum=0.100;SOR=1.371	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1228	20	0	1	0
chr7	148383851	148383851	C	T	exonic	CNTNAP2	.	unknown	UNKNOWN,	Cortical dysplasia-focal epilepsy syndrome;Pitt-Hopkins like syndrome 1	.	2	1519	1	0	0	1	0.000329056	.	.	140535	not_specified|not_provided|CNTNAP2-related_disorder|Cortical_dysplasia-focal_epilepsy_syndrome|Inborn_genetic_diseases	MedGen:CN169374|MedGen:C3661900|.|MONDO:MONDO:0012400,MedGen:C2750246,OMIM:610042,Orphanet:163681,Orphanet:221150|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0001	0.0052	0.0001	0	0.0001	0	0.0003	0.0004916	76	154602	rs201219937	0.0002	0.0002	0.0002	0.0002	0.0037	0.0002	0.0002	0.0032	0.0031	8.961e-05	0.0037	0	0.0001	1.877e-05	0.0002	5.576e-05	0.0001	0.0002	0.0001	0.0001	5.14e-05	0.0002	0.0005	6.509e-05	5.321e-05	0.0003	0.0002	7.22e-05	0	0.0005	0	0	0	0	7.351e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	1	0.02381	348.98	33	chr7	148383851	.	C	T	348.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.99;DP=747;ExcessHet=0.0000;FS=4.072;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=1.25;SOR=0.184	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1228	20	0	1	0
chr7	149003925	149003925	T	C	exonic	PDIA4	.	nonsynonymous SNV	PDIA4:NM_001371244:exon10:c.A1810G:p.I604V	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.108	B	0.353	B	0.000	D	1.000	D	1.245	L	1.89	T	-1.033	T	0.088	T	0.643	4.716	26.2	5.81	2.221	7.705	16.162	0.202	0.0108144490772	.	0.000399361	7.446e-05	0	0	0	0	0	0	0.0006	8.41e-05	13	154602	rs546633710	6.911e-05	6.909e-05	4.085e-05	9.766e-05	0.0008	5.781e-05	5.393e-05	0.0007	0.0006	0	4.48e-05	0	0	0	0.0005	1.529e-05	0.0001	0.0008	3.281e-05	3.281e-05	1.284e-05	5.367e-05	0.0006	1.26e-05	7.97e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	2.939e-05	0	0.0006	0.005	0.63226	D	0.013	0.63109	D	0.108	0.26116	B	0.353	0.42910	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.375	0.34280	L	1.89	0.23688	T	-0.98	0.25986	N	0.691	0.69649	-1.0332	0.19427	T	0.088	0.34105	T	10	0.45044187	0.58664	T	0.010814	0.27768	T	0.202	0.48754	0.807	0.92442	0.207176502487	0.20327	.	.	0.212072620509	0.23704	0.610491096973	0.54385	T	0.030147	0.21435	T	-0.246163	0.14573	T	-0.233889	0.51394	T	0.136640154066963	0.15983	T	0.960104	0.84924	D	0.25180015	0.48191	0.24756321	0.50289	0.25180015	0.48191	0.24756321	0.50288	-6.258	0.48389	T	.	.	.	.	.	.	.	4.069530	0.60449	24.2	0.99906488622798895	0.97726	0.96187	0.67934	D	AEFBCI	0.953011	0.96894	D	0.239941038803215	0.53144	3.484599	0.399452941714889	0.61530	4.354506	0.999999994351862	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.81	5.81	0.92413	7.643000	0.82546	7.769000	0.68436	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	16.162	0.81535	878	0.29785	Thioredoxin domain|Thioredoxin domain|Disulphide isomerase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1240.98	44	chr7	149003925	.	T	C	1240.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.910e+00;DP=934;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.70;ReadPosRankSum=0.606;SOR=0.717	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	20	0	1	0
chr7	149004087	149004087	C	T	exonic	PDIA4	.	nonsynonymous SNV	PDIA4:NM_001371244:exon10:c.G1648A:p.E550K	.	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.998	D	0.000	D	1.000	D	1.73	L	1.94	T	-1.085	T	0.099	T	0.92	4.892	28.1	5.81	2.751	7.574	20.073	0.492	.	0.0008	0.000599042	0.0020	0.0002	0.0004	0	0.0135	0.0020	0.0033	0.0005	0.0016688	258	154602	rs142233058	0.0013	0.0013	0.0013	0.0013	0.0016	0.0012	0.0012	0.0008	0.0008	0.0003	0.0004	0.0024	0	0.0129	0.0016	0.0009	0.0014	0.0003	0.0017	0.0017	0.0011	0.0024	0.0011	0.0016	0.0015	0.0009	0.0008	0.0003	0	0.0005	0.0017	0	0.0150	0	0.0011	0.0024	0	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.985	0.53793	M	1.94	0.22678	T	-3.45	0.67589	D	0.872	0.86941	-1.0851	0.06389	T	0.099	0.36882	T	10	0.020367831	0.00468	T	.	.	.	0.492	0.77847	.	.	0.470484629704	0.46675	.	.	0.485112295693	0.47406	0.77226215601	0.77764	T	0.108602	0.42178	T	-0.0514779	0.44222	T	0.123	0.78447	D	0.0656482360776478	0.08027	T	0.975436	0.91320	D	0.7837388	0.82884	0.8044998	0.88552	0.7837388	0.82885	0.8044998	0.88553	-7.409	0.56968	T	.	.	.	.	.	.	.	4.779472	0.77456	26.7	0.99930003406327583	0.99334	0.96223	0.68101	D	AEFGBCI	0.933218	0.92478	D	0.694133237193501	0.79248	7.037834	0.671963012134611	0.80254	7.258554	0.999999999999781	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.81	5.81	0.92413	7.618000	0.82239	5.835000	0.50197	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.447000	0.27828	0.0:1.0:0.0:0.0	20.073	0.97733	878	0.29785	Thioredoxin domain|Thioredoxin, conserved site|Thioredoxin domain|Disulphide isomerase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2938.11	38	chr7	149004087	.	C	T	2938.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-9.080e-01;DP=986;ExcessHet=0.1072;FS=0.981;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=1.35;SOR=0.617	GT:AD:DP:GQ:PL	0/1:55,71:126:99:1743,0,1391	19	0	2	0
chr7	149104336	149104336	C	A	exonic	ZNF425	.	nonsynonymous SNV	ZNF425:NM_001001661:exon4:c.G1535T:p.R512L,	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.323	B	0.082	B	.	.	1.000	N	-0.095	N	2.51	T	-0.942	T	0.013	T	0.222	1.994	12.62	1.14	0.142	-0.872	5.574	0.019	0.000863631526452	.	.	1.698e-05	0	0	0	0	1.553e-05	0.0011	0	1.94e-05	3	154602	rs199919803	5.476e-06	5.472e-06	5.449e-06	5.504e-06	0.0003	2.36e-06	1.7e-06	6.094e-05	2.522e-05	0	2.238e-05	0	0	0	0.0003	3.597e-06	0	1.16e-05	1.972e-05	1.97e-05	1.285e-05	2.692e-05	4.411e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	0.351	0.12265	T	0.303	0.20164	T	0.323	0.33082	B	0.082	0.29098	B	.	.	.	.	1	0.08975	N	0.33	0.10399	N	2.51	0.14284	T	-2.71	0.57762	D	0.191	0.20925	-0.9420	0.42298	T	0.013	0.05177	T	9	0.13567474	0.25816	T	8.64E-4	0.00755	T	0.019	0.03383	0.459	0.52590	0.235038932564	0.23097	0.06565034963417109	0.06504	0.479768631312	0.47003	0.356571018696	0.18885	T	0.179818	0.53095	T	-0.363297	0.03947	T	-0.676762	0.07183	T	0.077255615001167	0.09632	T	0.89741	0.64114	D	0.06591472	0.14134	0.07766953	0.17324	0.06591472	0.14134	0.07766953	0.17324	-4.097	0.25246	T	.	.	0.700	0.72939	P	.	.	1.216985	0.16105	12.32	0.98765404801802459	0.45878	0.05297	0.11143	N	AEFDBI	0.073089	0.14607	N	-1.2438430441216	0.04381	0.1976126	-1.27795607254489	0.04729	0.2237747	5.54635003629234E-4	0.07304	0.775728	0.99543	0	0.588066	0.40923	0	0.663124	0.60104	0	0.567892	0.33627	0	.	.	3.08	1.14	0.19817	-2.207000	0.01314	.	.	-0.217000	0.08171	0.000000	0.06391	.	.	0.156000	0.20513	0.0:0.6703:0.2051:0.1247	5.574	0.16496	958	0.09170	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2026.98	81	chr7	149104336	.	C	A	2026.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.90;DP=1845;ExcessHet=0.0000;FS=0.561;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=0.070;SOR=0.787	GT:AD:DP:GQ:PL	0/0:75,0:75:99:0,120,1800	20	0	1	0
chr7	149252726	149252726	G	A	exonic	ZNF212	.	nonsynonymous SNV	ZNF212:NM_012256:exon4:c.G562A:p.G188R,	.	.	431	1084	7	0	0	7	0.00321839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.808	P	0.216	B	0.783	N	0.924	N	0.94	L	3.27	T	-1.073	T	0.017	T	0.2	4.271	22.3	4.89	2.646	1.909	14.284	0.128	0.00229434534071	0.0022	0.000798722	0.0018	0.0009	0.0011	0	0.0021	0.0026	0.0011	0.0006	0.0017852	276	154602	rs141430858	0.0023	0.0023	0.0024	0.0022	0.0040	0.0022	0.0022	0.0027	0.0025	0.0005	0.0014	3.827e-05	2.519e-05	0.0023	0.0040	0.0026	0.0019	0.0006	0.0018	0.0018	0.0019	0.0018	0.0041	0.0016	0.0016	0.0032	0.0030	0.0007	0	0.0041	0	0	0.0014	0	0.0024	0.0014	0.0004	0.635	0.05076	T	0.241	0.24334	T	0.808	0.45299	P	0.216	0.37572	B	0.783486	0.09453	N	0.890661	0.924148	0.27222	N	0.775	0.19437	N	3.27	0.06602	T	0.48	0.03041	N	0.364	0.40565	-1.0725	0.08873	T	0.017	0.07187	T	10	0.0066052377	0.00150	T	0.002294	0.04397	T	0.128	0.35103	0.294	0.25720	0.260249123532	0.25628	0.22909172068056563	0.22824	0.624697044921	0.56669	0.434802174568	0.29866	T	0.005819	0.05268	T	-0.579026	0.00195	T	-0.605663	0.12340	T	0.019224121630004	0.00628	T	0.691931	0.30130	T	0.078681916	0.17931	0.080437385	0.18195	0.078681916	0.17931	0.080437385	0.18195	-4.888	0.35600	T	.	.	0.278	0.51174	B	.	.	3.446654	0.47969	22.5	0.99909460906672376	0.97949	0.88202	0.48025	D	AEFGBI	0.219113	0.34404	N	0.0868613322850342	0.45851	2.834761	0.198294092405926	0.49755	3.174861	0.984104751341964	0.30665	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.89	4.89	0.63387	1.301000	0.33052	11.451000	0.92797	0.676000	0.76740	0.938000	0.32564	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	14.284	0.65783	929	0.16858	Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1571.98	34	chr7	149252726	.	G	A	1571.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.194;DP=800;ExcessHet=0.0000;FS=0.713;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.29;ReadPosRankSum=-6.000e-01;SOR=0.600	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1139	20	0	1	0
chr7	149253874	149253874	A	G	exonic	ZNF212	.	nonsynonymous SNV	ZNF212:NM_012256:exon5:c.A947G:p.Y316C,	.	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.024	B	0.025	B	0.005	N	1.000	N	1.205	L	0.11	T	-0.958	T	0.124	T	0.26	0.595	7.210	2.94	0.344	0.605	3.779	0.050	0.00875701729483	0.0002	0.000399361	0.0004	9.643e-05	0	0	0	0.0002	0	0.0021	0.0003622	56	154602	rs367930564	0.0004	0.0004	0.0003	0.0005	0.0024	0.0004	0.0004	0.0021	0.0020	2.987e-05	0.0002	0	0	0	0.0007	0.0003	0.0004	0.0024	0.0002	0.0002	0.0002	0.0003	0.0027	0.0002	0.0001	0.0016	0.0013	4.811e-05	0	0.0002	0.0003	0	0	0	0.0002	0	0.0027	0.071	0.35165	T	0.107	0.37730	T	0.024	0.19075	B	0.025	0.20508	B	0.005316	0.32910	N	0.141275	0.999999	0.08975	N	2.005	0.54552	M	0.11	0.61208	T	-4.73	0.80085	D	0.145	0.14622	-0.9577	0.39608	T	0.124	0.42736	T	10	0.0056743324	0.00126	T	0.008757	0.23123	T	0.050	0.13987	.	.	0.595953376904	0.59274	0.5554044796569184	0.55467	0.403895571161	0.41309	0.342183351517	0.16765	T	0.152274	0.49260	T	-0.419919	0.01712	T	-0.381819	0.35511	T	0.0495589007140091	0.05423	T	0.761924	0.38711	T	0.15693341	0.35388	0.16195004	0.37644	0.15693341	0.35388	0.16195004	0.37643	-8.86	0.66791	D	.	.	0.443	0.61857	A	.	.	1.549644	0.19861	14.47	0.92793522985376509	0.22313	0.25904	0.22837	N	AEFDGBCI	0.097824	0.19722	N	-0.643504406643969	0.17649	0.910007	-0.614716252294574	0.19116	1.024171	0.860193050579355	0.25210	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.491896	0.07777	0	.	.	5.31	2.94	0.33188	0.905000	0.28127	3.311000	0.37464	0.751000	0.87719	0.001000	0.13787	0.966000	0.29516	0.872000	0.41544	0.6702:0.0:0.1722:0.1575	3.779	0.08192	929	0.16858	Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1771.98	33	chr7	149253874	.	A	G	1771.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.06;DP=849;ExcessHet=0.0000;FS=3.915;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.48;ReadPosRankSum=0.865;SOR=0.806	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1225	20	0	1	0
chr7	149725356	149725356	T	A	exonic	KRBA1	.	nonsynonymous SNV	KRBA1:NM_001290187:exon10:c.T1270A:p.C424S	.	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.999	D	0.964	D	0.000	D	0.625	D	1.04	L	1.39	T	-0.767	T	0.136	T	0.699	4.240	22.1	5.18	1.962	3.721	11.450	0.166	0.0161150417761	.	0.000998403	0.0005	0	0	0	0	0	0	0.0029	0.0002587	40	154602	rs565841314	0.0001	0.0001	6.022e-05	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	0	0	0	0	0	0	0	4.994e-05	0.0024	8.537e-05	8.529e-05	7.71e-05	9.401e-05	0.0025	4.954e-05	3.96e-05	0.0014	0.0011	0	0	0	0	0	0	0	0	0.0005	0.0025	0.051	0.39334	T	0.765	0.06109	T	0.999	0.77913	D	0.964	0.71005	D	0.000180	0.48594	D	0.000000	0.625138	0.32740	D	1.83	0.48079	L	1.38	0.34050	T	-8.0	0.96495	D	0.897	0.94077	-0.7674	0.57000	T	0.136	0.45087	T	10	0.08437422	0.14135	T	0.016115	0.37217	T	0.166	0.42578	0.386	0.40624	0.202086224978	0.19791	0.1872183702955702	0.18639	.	.	0.57913339138	0.49963	T	0.24433	0.61343	T	-0.286004	0.10040	T	-0.189768	0.55612	T	0.226336672930115	0.21776	T	0.649135	0.25986	T	0.2113313	0.43455	0.26275736	0.52072	0.2113313	0.43455	0.26275736	0.52071	-6.492	0.55911	T	.	.	0.569	0.72749	P	.;.;.	.;.;.	4.441087	0.68956	25.3	0.99189511283880993	0.54935	0.85562	0.44707	D	AEFBCI	0.538962	0.55614	D	0.494937772888738	0.66793	4.996358	0.508521057025757	0.68562	5.237247	0.999999767913205	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.18	5.18	0.71140	2.477000	0.44839	7.824000	0.69857	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	11.450	0.49390	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1366.98	35	chr7	149725356	.	T	A	1366.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.163;DP=788;ExcessHet=0.0000;FS=1.699;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.70;ReadPosRankSum=-3.440e-01;SOR=0.487	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr7	149765193	149765193	C	G	exonic	ZNF467	.	nonsynonymous SNV	ZNF467:NM_207336:exon5:c.G1309C:p.G437R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.005	U	1.000	D	2.89	M	-0.21	T	0.238	D	0.525	D	0.653	4.572	24.8	3.9	2.025	2.883	15.652	0.459	0.863565087641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.021	0.58089	D	1.0	0.90584	D	0.997	0.86255	D	0.004829	0.33350	U	0.000000	0.999955	0.81001	D	3.425	0.91960	M	-0.21	0.66294	T	-6.23	0.90490	D	0.67	0.67822	0.238	0.86546	D	0.525	0.82326	D	10	0.8977859	0.89135	D	0.863565	0.98953	D	0.459	0.75687	0.6	0.73105	0.735395247976	0.73303	0.28704004090768415	0.28617	1.50794490564	0.87177	0.918557047844	0.98211	D	0.151406	0.49133	T	0.101325	0.64436	D	-0.0922299	0.63993	T	0.970561444759369	0.68995	D	0.934007	0.75281	D	0.41623753	0.61841	0.44477955	0.67648	0.41623753	0.61841	0.44477955	0.67649	-10.449	0.76554	D	.	.	0.500	0.64577	A	.	.	4.193401	0.63219	24.6	0.99874551523204502	0.95160	0.91132	0.52923	D	AEFDBHCI	0.611590	0.59998	D	0.627713488662591	0.74933	6.217826	0.524741958897973	0.69659	5.392086	0.999999999999948	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.606814	0.37721	0	0.567892	0.33627	0	.	.	3.9	3.9	0.44240	2.526000	0.45267	4.719000	0.44495	0.597000	0.34315	0.941000	0.32681	1.000000	0.68203	0.094000	0.17991	0.0:1.0:0.0:0.0	15.652	0.76863	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1366.98	34	chr7	149765193	.	C	G	1366.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.241;DP=805;ExcessHet=0.0000;FS=1.745;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.19;ReadPosRankSum=0.371;SOR=0.931	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1508	20	0	1	0
chr7	149891292	149891292	G	A	exonic	ACTR3C	.	stopgain	ACTR3C:NM_001351029:exon3:c.C70T:p.R24X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs546601260	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	7.879e-05	0.0001	0	2.961e-05	0	0	0.0002	0.0002	5.259e-05	0.0001	0.0001	0.0001	9.645e-05	0.0002	7.728e-05	6.406e-05	0.0001	8.972e-05	7.348e-05	0	0.0001	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	307.98	20	chr7	149891292	.	G	A	307.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.93;DP=489;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=41.36;MQRankSum=0.492;QD=11.00;ReadPosRankSum=1.74;SOR=0.743	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,708	20	0	1	0
chr7	149892335	149892335	A	G	exonic	ACTR3C	.	nonsynonymous SNV	ACTR3C:NM_001351027:exon3:c.T173C:p.V58A	.	.	429	1071	22	0	0	22	0.0101664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0113818	.	.	.	.	.	.	.	.	0.0005886	91	154602	rs200817159	0.0049	0.0049	0.0034	0.0063	0.0519	0.0048	0.0047	0.0507	0.0501	0.0003	0.0012	0.0002	5.08e-05	0.0002	0.0092	0.0020	0.0048	0.0519	0.0031	0.0031	0.0025	0.0038	0.0538	0.0029	0.0028	0.0483	0.0461	0.0008	0	0.0026	0	0	0	0.0035	0.0020	0.0049	0.0538	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3735.11	118	chr7	149892335	.	A	G	3735.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.88;DP=2296;ExcessHet=0.1072;FS=4.484;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=51.05;MQRankSum=1.60;QD=12.45;ReadPosRankSum=-1.000e+00;SOR=0.837	GT:AD:DP:GQ:PL	0/0:115,0:115:99:0,120,1800	19	0	2	0
chr7	150331029	150331029	C	T	exonic	ZBED6CL	.	stopgain	ZBED6CL:NM_138434:exon1:c.C625T:p.Q209X,	.	.	425	1088	8	1	0	10	0.00457457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	.	.	.	.	0.051	U	1.000	D	.	.	.	.	.	.	.	.	.	7.246	38	4.18	2.057	1.069	9.816	.	.	0.0027	0.00199681	0.0025	0.0005	0.0025	0	0.0003	0.0038	0.0022	0.0005	0.0026714	413	154602	rs140450745	0.0037	0.0037	0.0038	0.0036	0.0041	0.0036	0.0036	0.0040	0.0039	0.0008	0.0036	0.0135	0	0.0003	0.0033	0.0041	0.0049	0.0005	0.0033	0.0033	0.0036	0.0030	0.0063	0.0031	0.0030	0.0053	0.0049	0.0008	0.0055	0.0063	0.0147	0	0	0	0.0044	0.0095	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.051460	0.02025	U	4.754580	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.092	0.07125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177904	0.71851	D	0.486496	0.94335	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	0.701483	0.10700	7.396	0.99621451284181572	0.75473	0.63997	0.32265	D	AEFDBHCI	0.108707	0.21617	N	0.700219257719169	0.79646	7.121927	0.487774524792129	0.67180	5.049455	0.999998273393581	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	4.18	4.18	0.48473	1.663000	0.37045	2.531000	0.33168	-0.173000	0.11020	0.978000	0.35038	0.991000	0.31484	0.022000	0.11911	0.2053:0.7947:0.0:0.0	9.816	0.40024	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1546.98	34	chr7	150331029	.	C	T	1546.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.900e-02;DP=886;ExcessHet=0.0000;FS=1.364;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=-1.253e+00;SOR=0.856	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr7	150337094	150337094	C	A	exonic	LRRC61	.	nonsynonymous SNV	LRRC61:NM_023942:exon2:c.C233A:p.A78D	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.624	P	0.334	B	0.109	N	1.000	N	0.76	N	2.98	T	-1.009	T	0.021	T	0.477	1.164	9.737	4.17	1.081	0.991	7.359	0.113	0.00678798307751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	0.18308	T	0.113	0.36901	T	0.624	0.40023	P	0.334	0.42203	B	0.109412	0.19486	N	0.546439	1	0.08975	N	0.495	0.13372	N	2.98	0.09356	T	-1.94	0.45042	N	0.434	0.51048	-1.0086	0.27354	T	0.021	0.08732	T	10	0.13856083	0.26352	T	0.006788	0.17953	T	0.113	0.31778	0.348	0.34436	0.227934060464	0.22382	0.4388381813387996	0.43800	0.577643901805	0.53680	0.506503224373	0.39734	T	0.013734	0.11823	T	-0.177045	0.24176	T	-0.492089	0.23173	T	0.233608856797218	0.22122	T	0.940956	0.77922	D	0.13187481	0.30725	0.1291117	0.31051	0.13187481	0.30725	0.1291117	0.31050	-8.112	0.61832	D	.	.	0.407	0.59986	A	.;.;.	.;.;.	2.274582	0.29073	18.01	0.98806804831104555	0.46541	0.22844	0.21882	N	AEFBCI	0.123821	0.23960	N	-0.506016277919832	0.21886	1.164702	-0.552051063841876	0.20751	1.119475	0.989048105596504	0.31706	0.645754	0.44609	0	0.702456	0.74545	0	0.696144	0.63334	0	0.579976	0.35079	0	.	.	5.08	4.17	0.48303	2.066000	0.41078	0.579000	0.19686	0.598000	0.34611	0.006000	0.17386	0.040000	0.21562	0.089000	0.17737	0.0:0.7922:0.0:0.2078	7.359	0.25908	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2277.98	34	chr7	150337094	.	C	A	2277.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.337e+00;DP=858;ExcessHet=0.0000;FS=1.245;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=0.330;SOR=0.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1044	20	0	1	0
chr7	150337196	150337196	C	T	exonic	LRRC61	.	nonsynonymous SNV	LRRC61:NM_023942:exon2:c.C335T:p.P112L	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.052	B	0.006	B	0.046	N	1.000	N	-1.575	N	2.23	T	-0.930	T	0.008	T	0.222	-1.929	0.008	3.64	2.151	1.627	4.149	0.097	0.00611259383232	7.7e-05	.	3.347e-05	9.923e-05	0	0	0	4.576e-05	0	0	2.59e-05	4	154602	rs149743914	2.956e-05	3.01e-05	3.148e-05	2.763e-05	8.961e-05	2.227e-05	1.98e-05	2.375e-05	1.942e-05	8.961e-05	4.472e-05	0	2.519e-05	0	0	3.058e-05	3.315e-05	1.159e-05	4.599e-05	4.597e-05	6.422e-05	2.689e-05	9.647e-05	2.109e-05	1.527e-05	3.248e-05	1.914e-05	9.647e-05	0	0	0	0	0	0	2.94e-05	0.0005	0	0.836	0.02840	T	0.901	0.03039	T	0.052	0.22494	B	0.006	0.12133	B	0.046079	0.23474	N	0.427094	0.999999	0.08975	N	1.6	0.40776	L	2.23	0.18083	T	1.98	0.00416	N	0.1	0.09914	-0.9299	0.44153	T	0.008	0.02884	T	10	0.040760547	0.02672	T	0.006113	0.15993	T	0.097	0.27909	.	.	0.101711395817	0.09552	0.32984841699066925	0.32897	0.194839770936	0.21820	0.529018163681	0.42896	T	5.78E-4	0.00232	T	-0.369644	0.03612	T	-0.586597	0.13961	T	0.0291486642528438	0.01861	T	0.692831	0.30243	T	0.023108331	0.01023	0.02830159	0.01054	0.023108331	0.01023	0.02830159	0.01054	-1.343	0.01472	T	.	.	0.085	0.09965	B	.;.;.	.;.;.	1.254789	0.16519	12.59	0.68547662947177868	0.08692	0.02577	0.07126	N	AEFDBCI	0.049911	0.08670	N	-1.11177421482465	0.06432	0.2960979	-0.974405042594407	0.10362	0.521405	0.999945844409583	0.47345	0.645754	0.44609	0	0.702456	0.74545	0	0.696144	0.63334	0	0.586402	0.36253	0	.	.	4.66	3.64	0.40864	1.361000	0.33740	2.596000	0.33495	0.548000	0.25860	0.021000	0.19753	0.818000	0.27101	0.473000	0.28408	0.0:0.6984:0.0:0.3016	4.149	0.09696	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1427.98	34	chr7	150337196	.	C	T	1427.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=1442;ExcessHet=0.0000;FS=3.920;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.52;ReadPosRankSum=-1.092e+00;SOR=0.954	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1044	20	0	1	0
chr7	150340563	150340563	C	T	exonic	RARRES2	.	nonsynonymous SNV	RARRES2:NM_002889:exon2:c.G47A:p.G16D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.004	B	0.006	B	0.068	N	1.000	N	1.645	L	.	.	-1.029	T	0.072	T	0.561	1.267	10.14	0.615	0.190	0.421	1.600	0.140	0.00669862362628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.069e-07	4.105e-06	0	1.429e-06	3.082e-05	0	0	.	.	3.082e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.29688	T	0.205	0.27145	T	0.004	0.12183	B	0.006	0.12133	B	0.068303	0.21681	N	0.431891	1	0.08975	N	1.445	0.36358	L	.	.	.	-2.81	0.59389	D	0.27	0.30574	-1.0286	0.20908	T	0.072	0.29387	T	9	0.12127891	0.22988	T	0.006699	0.17699	T	0.140	0.37593	0.485	0.56780	0.0482279557977	0.04254	0.33947742725017255	0.33860	0.177712438129	0.19995	0.579404890537	0.50002	T	0.18143	0.53310	T	-0.0287104	0.47604	T	-0.279017	0.46905	T	0.0749023800231074	0.09323	T	0.454955	0.12997	T	0.19891118	0.41811	0.17064053	0.39187	0.19891118	0.41811	0.17064053	0.39187	-6.613	0.51153	T	.	.	0.194	0.41526	B	.;.;.;.	.;.;.;.	1.244374	0.16405	12.52	0.9375747008324451	0.23701	0.07099	0.13125	N	AEFDBHCIJ	0.444459	0.50134	N	-0.850440972418295	0.12039	0.5844495	-0.917836272660365	0.11674	0.5961458	0.999999997607499	0.74766	0.72623	0.87236	0	0.541556	0.11502	0	0.594344	0.31042	0	0.530356	0.10902	0	.	.	4.7	0.615	0.16784	0.264000	0.18264	0.395000	0.17934	0.593000	0.32247	0.000000	0.06391	0.001000	0.17328	0.029000	0.12982	0.1441:0.4598:0.1406:0.2556	1.600	0.02511	940	0.13648	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	938.98	40	chr7	150340563	.	C	T	938.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.104e+00;DP=786;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.87;ReadPosRankSum=0.011;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1176	20	0	1	0
chr7	150467101	150467101	C	G	exonic	GIMAP8	.	nonsynonymous SNV	GIMAP8:NM_175571:exon2:c.C403G:p.R135G,	.	.	422	1094	6	0	0	6	0.00273473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.954	P	0.781	P	0.259	N	1.000	N	1.635	L	0.08	T	-0.886	T	0.181	T	0.248	2.441	14.12	-4.43	-0.729	-1.777	3.572	0.126	0.0132189459023	.	.	0.0011	0.0002	0.0003	0	0.0051	0.0013	0.0044	0.0005	0.0011643	180	154602	rs143212982	0.0014	0.0014	0.0015	0.0014	0.0016	0.0014	0.0014	0.0015	0.0015	0.0002	0.0004	3.826e-05	0	0.0041	0.0016	0.0016	0.0012	0.0003	0.0012	0.0012	0.0009	0.0015	0.0014	0.0010	0.0010	0.0011	0.0011	0.0004	0	0.0013	0	0	0.0044	0	0.0014	0	0.0006	0.013	0.53900	D	0.113	0.36901	T	0.954	0.54400	P	0.781	0.57337	P	0.259278	0.15347	N	0.525245	1	0.08975	N	1.72	0.44442	L	0.08	0.61559	T	-3.43	0.67359	D	0.202	0.22357	-0.8864	0.49240	T	0.181	0.52889	T	10	0.010969251	0.00242	T	0.013219	0.32452	T	0.126	0.34673	.	.	0.560872651919	0.55748	0.3957581991430946	0.39490	0.642053577171	0.57782	0.211359262466	0.00870	T	0.03757	0.24522	T	-0.454664	0.01060	T	-0.429861	0.29949	T	0.0728264867829109	0.09042	T	0.681032	0.28992	T	0.1331624	0.30981	0.14464329	0.34333	0.1331624	0.30981	0.14464329	0.34333	-7.255	0.55875	T	.	.	0.135	0.29255	B	.	.	0.259902	0.06385	2.850	0.97687211379868821	0.35352	0.02781	0.07488	N	AEFDBI	0.185510	0.31283	N	-0.719677085443754	0.15469	0.7798497	-0.993915176695477	0.09920	0.496481	0.99999402349655	0.74766	0.730579	0.87903	0	0.724815	0.89359	0	0.657636	0.52715	0	0.648885	0.59868	0	.	.	4.47	-4.43	0.03319	-2.945000	0.00746	-7.458000	0.01152	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.145000	0.20128	0.3892:0.2714:0.0:0.3394	3.572	0.07473	946	0.12043	AIG1-type guanine nucleotide-binding (G) domain|AIG1-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1794.98	39	chr7	150467101	.	C	G	1794.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.955;DP=906;ExcessHet=0.0000;FS=3.964;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.73;ReadPosRankSum=-1.487e+00;SOR=0.657	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1266	20	0	1	0
chr7	150628284	150628284	G	A	exonic	GIMAP6	.	nonsynonymous SNV	GIMAP6:NM_001244072:exon3:c.C524T:p.S175L	.	.	429	1077	16	0	0	16	0.00737327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.002	B	0.001	B	0.487	N	1.000	N	1.3	L	3.3	T	-0.945	T	0.013	T	0.198	0.807	8.240	-5.38	-1.157	-1.542	0.436	0.034	0.00119476482801	0.0028	0.00199681	0.0028	0.0002	0.0020	0.0001	0.0003	0.0039	0.0044	0.0030	0.0025873	400	154602	rs62000976	0.0027	0.0027	0.0025	0.0028	0.0080	0.0026	0.0026	0.0061	0.0055	0.0003	0.0019	0.0173	5.038e-05	0.0004	0.0080	0.0024	0.0042	0.0045	0.0021	0.0021	0.0021	0.0021	0.0043	0.0019	0.0018	0.0029	0.0024	0.0003	0	0.0021	0.0167	0.0002	9.409e-05	0.0034	0.0027	0.0052	0.0043	0.315	0.13789	T	0.359	0.17014	T	0.001	0.07471	B	0.001	0.04355	B	0.487066	0.05014	N	1.288440	1	0.08975	N	.	.	.	3.3	0.06368	T	-2.09	0.47683	N	0.087	0.07811	-0.9454	0.41748	T	0.013	0.04938	T	10	0.004221022	0.00084	T	0.001195	0.01533	T	0.034	0.08419	.	.	0.0611884634855	0.05136	0.3451362345028697	0.34427	0.117263545329	0.13215	0.328480452299	0.14704	T	0.009735	0.08845	T	-0.670216	0.00055	T	-0.736334	0.04046	T	0.00652228570760141	0.00073	T	0.455554	0.13039	T	0.03513331	0.04077	0.037139736	0.03303	0.03513331	0.04077	0.037139736	0.03302	-5.271	0.39655	T	.	.	0.116	0.23255	B	.;.	.;.	0.514320	0.08831	5.610	0.82393646908283369	0.14169	0.05186	0.11007	N	AEFDBCI	0.041459	0.06306	N	-1.61730858794063	0.01181	0.05132128	-1.72623328276491	0.01026	0.04602682	0.999998970312576	0.74766	0.67177	0.52595	0	0.685571	0.66316	0	0.573888	0.23631	0	0.711	0.71501	0	.	.	4.07	-5.38	0.02465	-1.937000	0.01639	-1.581000	0.05125	-1.673000	0.00797	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2514:0.2039:0.3132:0.2315	0.436	0.00447	856	0.34373	AIG1-type guanine nucleotide-binding (G) domain|AIG1-type guanine nucleotide-binding (G) domain;AIG1-type guanine nucleotide-binding (G) domain|AIG1-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2260.98	37	chr7	150628284	.	G	A	2260.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=911;ExcessHet=0.0000;FS=9.546;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.40;ReadPosRankSum=1.14;SOR=1.135	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr7	150628640	150628640	C	G	exonic	GIMAP6	.	nonsynonymous SNV	GIMAP6:NM_001244072:exon3:c.G168C:p.Q56H,	.	.	435	1066	21	0	0	21	0.00975383	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.285	U	1.000	N	.	.	.	.	-0.984	T	0.074	T	0.075	-0.024	3.891	0.78	0.194	0.202	3.468	0.025	.	.	0.00119808	0.0039	0.0005	0.0022	0	0.0004	0.0063	0.0048	0.0016	0.0026455	409	154602	rs148793735	0.0044	0.0043	0.0045	0.0043	0.0052	0.0043	0.0043	0.0051	0.0050	0.0007	0.0021	0.0011	0	0.0007	0.0010	0.0052	0.0038	0.0017	0.0030	0.0031	0.0033	0.0027	0.0056	0.0028	0.0027	0.0052	0.0050	0.0006	0	0.0025	0.0006	0	0	0.0034	0.0056	0.0009	0.0021	.	.	.	0.126	0.35205	T	.	.	.	.	.	.	0.284752	0.03856	U	2.780850	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.124	0.11626	-0.9842	0.34022	T	0.074	0.29928	T	6	0.0043741465	0.00089	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.20887290885808846	0.20803	.	.	0.261247158051	0.05040	T	.	.	.	-0.462762	0.00945	T	-0.435445	0.29319	T	0.00832272029620834	0.00100	T	0.310869	0.06046	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.31931	B	.	.	0.678230	0.10466	7.185	0.43036293542867998	0.03212	0.04629	0.10294	N	AEFBCI	.	.	.	-0.759156796233761	0.14386	0.7161691	-0.948038266060922	0.10969	0.5559042	0.999612253785756	0.40981	0.096616	0.02514	0	0.100175	0.03081	0	0.063197	0.01477	0	0.089868	0.02511	0	0.131693	0.25914	2.76	0.78	0.17701	0.888000	0.27904	0.322000	0.17195	-0.250000	0.07158	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.2758:0.5809:0.0:0.1433	3.468	0.07122	856	0.34373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1084.98	37	chr7	150628640	.	C	G	1084.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.988e+00;DP=822;ExcessHet=0.0000;FS=3.145;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.86;ReadPosRankSum=1.13;SOR=0.869	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr7	150692486	150692486	G	T	exonic	GIMAP2	.	nonsynonymous SNV	GIMAP2:NM_015660:exon3:c.G200T:p.S67I,	.	.	422	1095	5	0	0	5	0.0022779	.	.	2823328	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.247	B	0.032	B	0.073	N	1.000	N	0.72	N	0.09	T	-1.061	T	0.075	T	0.179	1.656	11.50	-2.55	-0.378	-2.179	4.235	0.042	0.0100834365623	0.0062	0.000798722	0.0032	0.0016	0.0007	0	0.0006	0.0051	0	0.0008	0.0034088	527	154602	rs143364322	0.0056	0.0056	0.0057	0.0055	0.0068	0.0055	0.0055	0.0067	0.0066	0.0009	0.0016	0.0013	0	0.0016	0.0040	0.0068	0.0052	0.0006	0.0038	0.0038	0.0041	0.0036	0.0065	0.0036	0.0035	0.0060	0.0058	0.0013	0.0033	0.0037	0.0009	0	0.0006	0	0.0065	0.0038	0.0012	0.156	0.24090	T	0.439	0.13365	T	0.247	0.31125	B	0.032	0.22131	B	0.072937	0.02271	N	1.845140	1	0.08975	N	1.375	0.34280	L	0.09	0.61443	T	-2.0	0.46146	N	0.078	0.05287	-1.0606	0.11607	T	0.075	0.30272	T	10	0.010026962	0.00225	T	0.010083	0.26191	T	0.042	0.11227	.	.	0.542007956216	0.53853	0.10420609256454201	0.10350	0.0659128895758	0.07352	0.311677634716	0.12159	T	0.005419	0.04871	T	-0.519781	0.00441	T	-0.516794	0.20620	T	0.0012106252071761	0.00012	T	0.563744	0.19863	T	0.2293143	0.45667	0.1129119	0.27246	0.2293143	0.45667	0.1129119	0.27245	-5.445	0.41350	T	.	.	0.087	0.11124	B	.	.	0.318307	0.06928	3.473	0.93856417784080648	0.23859	0.03012	0.07883	N	AEFDGBCI	0.045576	0.07471	N	-1.03239041935048	0.07938	0.3704676	-1.11778024903956	0.07361	0.3577232	0.999997189872991	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.615948	0.41167	0	0.711	0.71501	0	.	.	3.8	-2.55	0.05922	-1.632000	0.02126	-2.272000	0.03968	0.656000	0.54149	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.4274:0.3469:0.2256:0.0	4.235	0.10073	845	0.36510	AIG1-type guanine nucleotide-binding (G) domain|AIG1-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2231.98	33	chr7	150692486	.	G	T	2231.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.972e+00;DP=917;ExcessHet=0.0000;FS=1.969;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=1.02;SOR=0.542	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1308	20	0	1	0
chr7	150801681	150801681	C	T	exonic	TMEM176A	.	nonsynonymous SNV	TMEM176A:NM_018487:exon2:c.C131T:p.A44V,	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.3	B	0.045	B	0.145	N	1.000	N	0.345	N	3.22	T	-0.981	T	0.014	T	0.193	0.740	7.929	1.86	0.701	-0.244	6.877	0.039	0.00114920955209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.914e-07	1.368e-06	1.376e-06	0	9.033e-07	0	0	.	.	0	0	0	0	0	0	9.033e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.21550	T	0.476	0.12037	T	0.3	0.32550	B	0.045	0.24526	B	0.144585	0.02913	N	2.803570	1	0.19781	N	1.21	0.30464	L	3.22	0.07024	T	-1.24	0.31375	N	0.067	0.04188	-0.9814	0.34678	T	0.014	0.05369	T	10	0.096470445	0.17307	T	0.001149	0.01434	T	0.039	0.10176	0.395	0.42099	0.28492961333	0.28089	0.04747986901983533	0.04690	0.340862838009	0.36025	0.350129246712	0.17940	T	0.005031	0.04462	T	-0.29497	0.09142	T	-0.66148	0.08166	T	0.0955082029104233	0.11856	T	0.422958	0.11265	T	0.061834246	0.12850	0.102120936	0.24467	0.061834246	0.12849	0.102120936	0.24467	-3.704	0.19377	T	.	.	0.129	0.27523	B	.;.	.;.	0.551271	0.09200	5.981	0.90637404214129424	0.19890	0.01350	0.04632	N	AEFDBI	0.317353	0.42137	N	-0.968102255390201	0.09290	0.4390971	-1.01638489003069	0.09424	0.468834	0.999970249044063	0.50053	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	2.78	1.86	0.24489	-0.551000	0.06117	0.067000	0.14209	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2754:0.7246:0.0:0.0	6.877	0.23333	759	0.50631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	769.98	34	chr7	150801681	.	C	T	769.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.010e+00;DP=725;ExcessHet=0.0000;FS=3.048;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.38;ReadPosRankSum=1.04;SOR=0.276	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1234	20	0	1	0
chr7	150804453	150804453	G	T	exonic	TMEM176A	.	nonsynonymous SNV	TMEM176A:NM_018487:exon6:c.G647T:p.R216I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.879	P	0.421	B	0.519	U	1.000	N	0.695	N	3.1	T	-1.025	T	0.022	T	0.441	3.057	16.21	-1.05	-0.329	-0.362	4.270	0.082	0.0033645665547	7.7e-05	.	2.471e-05	0	0	0	0	4.496e-05	0	0	2.59e-05	4	154602	rs376649866	1.368e-05	1.368e-05	1.497e-05	1.238e-05	2.236e-05	8.94e-06	7.26e-06	1.012e-05	8.35e-06	0	2.236e-05	0	0	0	0	1.619e-05	1.656e-05	0	0.0001	0.0001	0.0001	8.068e-05	0.0002	6.511e-05	5.322e-05	9.047e-05	7.012e-05	0	0	0.0001	0	0	0	0	0.0002	0.0014	0	0.007	0.61437	D	0.008	0.67890	D	0.879	0.48338	P	0.421	0.45113	B	0.518941	0.11764	U	0.750870	0.999998	0.08975	N	1.65	0.42232	L	3.1	0.13434	T	-3.63	0.69714	D	0.457	0.49692	-1.0253	0.21985	T	0.022	0.09193	T	10	0.157381	0.29620	T	0.003365	0.07512	T	0.082	0.23913	.	.	0.282575091529	0.27877	0.31037711068989493	0.30950	1.31982225195	0.83423	0.274738222361	0.06769	T	0.087143	0.46281	T	-0.288438	0.09794	T	-0.495732	0.22791	T	0.621955096721649	0.37286	D	0.639136	0.26018	T	0.11724204	0.27642	0.17227694	0.39470	0.11724204	0.27641	0.17227694	0.39469	-5.6	0.42792	T	.	.	0.210	0.44796	B	.;.;.;.;.	.;.;.;.;.	2.256556	0.28829	17.93	0.96613208012984397	0.30452	0.04523	0.10152	N	AEFDBI	0.687464	0.64879	D	-0.599582364153308	0.18957	0.9884389	-0.754522712264416	0.15612	0.8219096	0.966663254111926	0.28920	0.623552	0.39893	0	0.59043	0.45803	0	0.667671	0.60360	0	0.530356	0.10902	0	.	.	4.26	-1.05	0.09523	-0.095000	0.11043	0.430000	0.18314	0.676000	0.76740	0.065000	0.21925	0.035000	0.21413	0.624000	0.32000	0.4122:0.1673:0.4204:0.0	4.270	0.10230	769	0.49307	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	864.98	76	chr7	150804453	.	G	T	864.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.670e-01;DP=856;ExcessHet=0.0000;FS=3.132;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.38;ReadPosRankSum=-2.550e-01;SOR=0.364	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr7	150993939	150993939	C	T	exonic	NOS3	.	nonsynonymous SNV	NOS3:NM_001160109:exon1:c.C136T:p.L46F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.187	B	0.084	B	0.810	N	0.648	N	0	N	4.68	T	-0.975	T	0.018	T	0.236	1.375	10.53	2.5	0.526	0.186	5.259	0.034	0.00993503295317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.048e-07	6.84e-07	0	1.424e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.702e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	0.26192	T	0.104	0.40747	T	0.187	0.29285	B	0.084	0.29270	B	0.809588	0.09261	N	0.893991	0.647859	0.32936	D	0	0.06538	N	4.68	0.14284	T	-0.45	0.16799	N	0.113	0.10911	-0.9750	0.36125	T	0.018	0.07565	T	10	0.08425635	0.14102	T	0.009935	0.25856	T	0.034	0.08419	0.191	0.10171	0.387850303812	0.38401	0.058788325787311385	0.05819	0.0686766132944	0.07693	0.488539516926	0.37236	T	0.135644	0.46757	T	-0.294961	0.09144	T	-0.661467	0.08167	T	0.0520067699253559	0.05848	T	0.616038	0.23564	T	0.038020004	0.04986	0.04689292	0.06637	0.038020004	0.04986	0.04689292	0.06636	-5.687	0.44748	T	.	.	0.075	0.09336	B	.;.;.	.;.;.	0.514645	0.08836	5.613	0.90210293261597629	0.19484	0.08642	0.14542	N	AEFGBCI	0.071067	0.14133	N	-0.920572869555121	0.10361	0.494774	-0.920149933399626	0.11619	0.5930422	0.999999564723302	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.56214	0.19341	0	.	.	4.38	2.5	0.29355	-0.201000	0.09466	0.573000	0.19627	-1.042000	0.01662	0.000000	0.06391	0.248000	0.23899	0.002000	0.04165	0.2027:0.6853:0.0:0.1119	5.259	0.14879	934	0.15400	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	507.98	39	chr7	150993939	.	C	T	507.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=743;ExcessHet=0.0000;FS=2.886;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=-1.350e+00;SOR=1.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1335	20	0	1	0
chr7	151016131	151016133	CTC	-	exonic	ATG9B	.	nonframeshift deletion	ATG9B:NM_001317056:exon12:c.2623_2625del:p.E875del,	.	.	414	1087	21	0	0	21	0.0095672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.000599042	0.0017	0	0	0	0	0.0007	0	0.0047	0.0002264	35	154602	rs575751217	0.0004	0.0004	0.0002	0.0005	0.0036	0.0003	0.0003	0.0032	0.0031	3.185e-05	0.0001	0	0	4.1e-05	0.0027	0.0002	0.0006	0.0036	0.0003	0.0003	0.0002	0.0005	0.0050	0.0003	0.0002	0.0034	0.0029	4.814e-05	0	0.0005	0	0	9.418e-05	0	0.0002	0.0005	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2126.94	40	chr7	151016130	.	TCTC	T	2126.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.460e-01;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.16;ReadPosRankSum=2.14;SOR=0.747	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1365	20	0	1	0
chr7	151018803	151018803	G	A	exonic	ATG9B	.	nonsynonymous SNV	ATG9B:NM_001317056:exon6:c.C1535T:p.A512V,	.	.	428	1092	1	1	0	3	0.00137174	.	.	2452955	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.584	P	0.425	B	0.006	N	.	.	.	.	.	.	-0.858	T	0.117	T	0.249	0.386	6.094	1.26	0.967	3.368	6.767	0.052	0.610069739888	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs771980463	9.535e-06	9.577e-06	1.004e-05	8.997e-06	0.0005	5.12e-06	3.74e-06	8.501e-05	3.541e-05	0	0	0	0	0	0.0005	6.236e-06	6.432e-05	0	1.322e-05	1.314e-05	1.292e-05	1.354e-05	6.595e-05	2.2e-06	8.2e-07	.	.	2.421e-05	0	6.595e-05	0	0	0	0	0	0	0	.	.	.	0.081	0.41742	T	0.584	0.38894	P	0.425	0.45259	B	0.005666	0.32605	N	0.316936	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.29774	-0.8584	0.51377	T	0.117	0.41187	T	7	0.50579196	0.61810	D	0.61007	0.96593	D	.	.	0.472	0.54699	0.339793275041	0.33585	0.4052566737669202	0.40441	.	.	0.926069140434	0.98750	D	0.057241	0.30512	T	0.0295437	0.55662	T	-0.195339	0.55088	T	0.994432151317596	0.85721	D	0.509849	0.16238	T	0.07502036	0.16876	0.13212724	0.31713	0.07502036	0.16876	0.13212724	0.31712	-5.932	0.45707	T	.	.	0.110	0.24054	B	.;.	.;.	3.198007	0.43478	21.7	0.91507951313036284	0.20783	0.93357	0.58001	D	AEFDGBCIJ	0.383111	0.46474	N	-0.134623295782044	0.35891	2.067396	-0.18720284712275	0.32006	1.816709	0.999999998731446	0.74766	0.166803	0.03914	0	0.354962	0.05895	0	0.182457	0.04408	0	0.155393	0.04056	0	.	.	4.29	1.26	0.20534	3.693000	0.54467	5.757000	0.49661	0.639000	0.52094	0.995000	0.38783	1.000000	0.68203	0.034000	0.13613	0.0:0.1591:0.3636:0.4772	6.767	0.22759	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	835.98	35	chr7	151018803	.	G	A	835.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.440e-01;DP=949;ExcessHet=0.0000;FS=2.619;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.44;ReadPosRankSum=0.599;SOR=0.988	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1487	20	0	1	0
chr7	151024396	151024396	-	C	exonic	ATG9B	.	frameshift insertion	ATG9B:NM_001317056:exon1:c.27dupG:p.R10Efs*139,	.	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0077	.	0.0024	0.0012	0	0.0025	0	0.0028	0	0.0097	0.0001153	3	26028	rs766474019	0.0009	0.0011	0.0008	0.0010	0.0017	0.0009	0.0008	0.0014	0.0013	0.0006	0.0003	0.0123	0.0002	0.0003	0.0003	0.0007	0.0012	0.0017	0.0008	0.0008	0.0008	0.0008	0.0026	0.0007	0.0006	0.0015	0.0012	0.0005	0	0.0003	0.0125	0.0006	0	0	0.0005	0.0019	0.0026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1079.94	49	chr7	151024396	.	T	TC	1079.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.801;DP=1067;ExcessHet=0.0000;FS=0.657;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.08;ReadPosRankSum=0.133;SOR=0.619	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	20	0	1	0
chr7	151024399	151024399	C	A	exonic	ATG9B	.	nonsynonymous SNV	ATG9B:NM_001317056:exon1:c.G25T:p.G9W,	.	.	422	1094	6	0	0	6	0.00273473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.881	P	0.275	B	0.110	N	.	.	.	.	.	.	-0.953	T	0.074	T	0.24	-0.618	1.253	1.52	0.471	0.530	6.588	0.061	.	.	0.00159744	0.0026	0	0.0017	0	0	0.0021	0	0.0217	0.0006274	97	154602	rs545139907	0.0005	0.0006	0.0004	0.0006	0.0064	0.0005	0.0005	0.0058	0.0055	7.618e-05	0.0007	0.0039	0.0004	2.417e-05	0.0058	0.0002	0.0009	0.0064	0.0007	0.0007	0.0005	0.0009	0.0081	0.0006	0.0005	0.0061	0.0054	0.0002	0	0.0017	0.0026	0	0	0.0171	0.0002	0.0014	0.0081	.	.	.	0.024	0.56640	D	0.881	0.48446	P	0.275	0.40079	B	0.110496	0.19440	N	0.434947	.	.	.	.	.	.	.	.	.	.	.	.	0.404	0.44474	-0.9532	0.40416	T	0.074	0.29897	T	7	0.0054236054	0.00119	T	.	.	.	.	.	.	.	0.441324992753	0.43756	0.16623656053761898	0.16543	.	.	0.422532200813	0.28186	T	0.032365	0.22453	T	-0.337211	0.05584	T	-0.252731	0.49547	T	0.107801700220323	0.13194	T	0.49655	0.15423	T	0.044533964	0.07136	0.066472635	0.13623	0.044533964	0.07136	0.066472635	0.13623	-4.823	0.34858	T	.	.	0.174	0.38172	B	.;.	.;.	2.273833	0.29066	18.00	0.6570393647721422	0.07848	0.67269	0.33372	D	AEFDBCI	0.371147	0.45727	N	-0.327890253594571	0.28092	1.54667	-0.391151531960423	0.25259	1.388052	0.999997272871623	0.74766	0.07523	0.01759	0	0.109994	0.03358	0	0.056003	0.00319	0	0.079188	0.02158	0	.	.	4.36	1.52	0.22158	0.312000	0.19147	1.317000	0.25577	-0.972000	0.01937	0.988000	0.36536	1.000000	0.68203	0.002000	0.04165	0.0:0.6834:0.0:0.3166	6.588	0.21827	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2202.11	118	chr7	151024399	.	C	A	2202.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.597;DP=1086;ExcessHet=0.1072;FS=1.037;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.96;ReadPosRankSum=0.400;SOR=0.687	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	19	0	2	0
chr7	151036126	151036126	G	A	exonic	ABCB8	.	nonsynonymous SNV	ABCB8:NM_001282293:exon7:c.G803A:p.R268H	.	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.998	D	0.93	D	0.017	N	1.000	N	1.625	L	-1.53	D	-0.272	T	0.643	D	0.378	2.378	13.91	2.47	1.317	0.116	4.492	0.352	0.114764411851	0.0004	0.000199681	0.0002	0.0013	0	0	0	1.588e-05	0	0.0007	0.0001746	27	154602	rs144862157	9.719e-05	9.713e-05	8.853e-05	0.0001	0.0013	8.381e-05	7.919e-05	0.0010	0.0009	0.0013	0	0	5.039e-05	0	0.0003	8.993e-06	0.0001	0.0009	0.0003	0.0003	0.0003	0.0004	0.0010	0.0003	0.0002	0.0008	0.0007	0.0010	0	6.534e-05	0	0	9.416e-05	0	1.47e-05	0	0.0008	0.539	0.06891	T	0.538	0.09829	T	0.975	0.67487	D	0.737	0.63913	P	0.017407	0.27731	N	0.407811	1	0.08975	N	1.79	0.46772	L	-2.54	0.89496	D	0.15	0.08495	N	0.45	0.49874	-0.2716	0.75768	T	0.643	0.87532	D	10	0.057269543	0.06550	T	0.114764	0.79373	D	0.352	0.67326	.	.	0.979076853958	0.97885	0.40021259172163076	0.39936	0.435720000412	0.43672	0.413728415966	0.26972	T	0.255325	0.69636	T	-0.282515	0.10403	T	-0.19182	0.55419	T	0.0488406658435342	0.05295	T	0.970103	0.89686	D	0.082510054	0.19012	0.04612451	0.06359	0.082510054	0.19011	0.04612451	0.06359	-8.523	0.64581	D	.	.	0.089	0.16670	B	.;.;.;.;.;.	.;.;.;.;.;.	3.050847	0.40936	21.3	0.99800773255370767	0.88550	0.08381	0.14317	N	AEFBCI	0.144165	0.26705	N	0.0283943898661779	0.43148	2.613572	-0.0303066088569008	0.38353	2.258385	0.999813014269953	0.43459	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.51	2.47	0.29113	0.138000	0.15838	2.777000	0.34710	0.676000	0.76740	0.000000	0.06391	0.997000	0.33255	0.633000	0.32236	0.1764:0.0:0.5513:0.2723	4.492	0.11230	934	0.15400	.;.;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	659.98	38	chr7	151036126	.	G	A	659.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.586e+00;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=1.41;SOR=0.637	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr7	151041210	151041210	A	G	exonic	ABCB8	.	nonsynonymous SNV	ABCB8:NM_001282293:exon12:c.A1331G:p.Q444R	.	.	398	1119	5	0	0	5	0.00222916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.02	B	0.034	B	0.000	D	1.000	D	0.45	N	-3.24	D	-0.112	T	0.586	D	0.24	2.199	13.31	4.45	1.642	6.135	11.694	0.325	0.121303444569	.	.	8.63e-06	0	0	0	0	0	0	6.364e-05	6.5e-06	1	154602	rs755329372	3.443e-06	4.788e-06	1.371e-06	5.535e-06	0.0002	1.01e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.7e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	0.15717	T	0.433	0.21478	T	0.016	0.18235	B	0.02	0.22546	B	0.000093	0.51296	D	0.134289	0.998552	0.81001	D	0.16	0.08945	N	-3.24	0.93474	D	-0.4	0.15782	N	0.425	0.47487	-0.1115	0.79833	T	0.586	0.85162	D	10	0.28391004	0.45972	T	0.121303	0.80204	D	0.325	0.64725	0.681	0.81885	0.960022966362	0.95960	0.8700637899104202	0.86971	0.238368492599	0.26382	0.396692574024	0.24609	T	0.235143	0.60233	T	-0.013103	0.49829	T	-0.155968	0.58714	T	0.590879440307617	0.36041	D	0.820118	0.47860	T	0.13971014	0.32263	0.09655981	0.22948	0.13971014	0.32262	0.09655981	0.22947	-5.465	0.42865	T	.	.	0.080	0.07985	B	.;.;.;.	.;.;.;.	2.862300	0.37822	20.6	0.98575612897712217	0.43167	0.93328	0.57923	D	AEFDBCI	0.794428	0.72214	D	-0.216529859741463	0.32454	1.83054	-0.0257380389385111	0.38557	2.273258	0.99999969999379	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.45	4.45	0.53365	6.136000	0.71452	9.356000	0.80337	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.693000	0.33928	1.0:0.0:0.0:0.0	11.694	0.50796	929	0.16858	.;.;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	927.98	34	chr7	151041210	.	A	G	927.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.350e-01;DP=796;ExcessHet=0.0000;FS=0.907;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=-5.660e-01;SOR=0.828	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr7	151055803	151055803	G	A	exonic	CDK5	.	nonsynonymous SNV	CDK5:NM_004935:exon6:c.C358T:p.R120C,	.	.	306	1213	3	0	0	3	0.00123508	.	.	3292967	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.997	D	0.708	P	0.000	D	1.000	D	1.38	L	-0.23	T	-0.394	T	0.304	T	0.906	4.086	21.0	4.51	2.349	5.713	14.773	0.600	0.0894604616133	8.1e-05	.	0.0002	0	0	0	0	0.0001	0	0.0009	0.0001164	18	154602	rs373178311	8.767e-05	9.029e-05	5.723e-05	0.0001	0.0008	7.497e-05	7.043e-05	0.0006	0.0006	2.989e-05	2.247e-05	0	2.52e-05	0	0.0005	5.04e-05	0	0.0008	2.629e-05	2.627e-05	1.285e-05	4.037e-05	0.0002	8.14e-06	5.14e-06	.	.	2.415e-05	0	0	0	0.0002	0	0	1.47e-05	0	0.0002	0.0	0.91255	D	0.001	0.83351	D	0.997	0.70673	D	0.708	0.54437	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.88	0.49984	L	-0.23	0.66652	T	-3.24	0.65171	D	0.53	0.55886	-0.3943	0.72206	T	0.304	0.67538	T	10	0.41099596	0.56223	T	0.08946	0.75331	D	0.600	0.84183	.	.	0.935304995632	0.93463	0.7881675718964364	0.78768	2.20945217804	0.95737	0.813554286957	0.84037	D	0.268868	0.64102	T	0.0427088	0.57399	T	0.226578	0.84503	D	0.328219652175903	0.26153	T	0.875412	0.58680	D	0.7017071	0.78150	0.59412485	0.76441	0.7017071	0.78151	0.59412485	0.76442	-8.832	0.66609	D	.	.	0.348	0.56455	A	.	.	5.865975	0.93875	33	0.99893510715775147	0.96666	0.93479	0.58329	D	AEFBHCI	0.868225	0.78828	D	0.539317151318556	0.69432	5.35633	0.544333137282276	0.71002	5.589246	0.999999878190112	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.383324	0.06259	0	0.562822	0.20929	0	.	.	4.51	4.51	0.54589	6.029000	0.70540	8.683000	0.78050	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	14.773	0.69315	884	0.28482	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1247.98	37	chr7	151055803	.	G	A	1247.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.680e-01;DP=899;ExcessHet=0.0000;FS=0.784;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=1.06;SOR=0.598	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1620	20	0	1	0
chr7	151064613	151064613	C	T	exonic	SLC4A2	.	nonsynonymous SNV	SLC4A2:NM_001199693:exon3:c.C278T:p.P93L	.	.	409	1093	20	0	0	20	0.00906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.004	B	0.009	B	0.050	N	0.862	N	1.39	L	1.56	T	-0.762	T	0.245	T	0.206	2.216	13.37	2.91	0.586	-0.237	5.739	0.057	0.0715997310659	0.0006	0.000399361	0.0010	9.837e-05	0.0020	0	0	0.0012	0.0034	0.0008	0.0009767	151	154602	rs146857685	0.0008	0.0008	0.0008	0.0008	0.0256	0.0008	0.0007	0.0221	0.0208	0.0005	0.0021	0.0029	0	1.874e-05	0.0256	0.0006	0.0017	0.0008	0.0010	0.0010	0.0010	0.0010	0.0031	0.0009	0.0008	0.0024	0.0021	0.0002	0	0.0031	0.0026	0	0	0.0102	0.0011	0.0038	0.0004	0.024	0.48642	D	0.221	0.25827	T	0.002	0.12183	B	0.004	0.14300	B	0.050366	0.23077	N	0.478491	0.920733	0.28346	N	1.1	0.28011	L	0.97	0.74053	T	-2.49	0.54217	N	0.241	0.27197	-0.7624	0.57275	T	0.245	0.61436	T	10	0.008913398	0.00202	T	0.072	0.71312	D	0.057	0.16321	.	.	0.464188422262	0.46044	0.20815250473220942	0.20731	0.514846979107	0.49409	0.524394869804	0.42245	T	0.023173	0.32031	T	-0.403854	0.02184	T	-0.366115	0.37344	T	0.00974501270101722	0.00128	T	0.80202	0.44827	T	0.044927947	0.07265	0.035186734	0.02724	0.044927947	0.07265	0.035186734	0.02724	-4.828	0.34916	T	.	.	0.079	0.14201	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.152937	0.27425	17.46	0.98031118972330555	0.37712	0.55553	0.29893	D	AEFBHCI	0.258834	0.37730	N	-0.493822471254174	0.22282	1.188729	-0.42324928924823	0.24317	1.330918	0.999998137556417	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.76	2.91	0.32903	0.580000	0.23505	2.161000	0.30982	0.599000	0.40250	0.000000	0.06391	0.076000	0.22303	0.802000	0.37819	0.191:0.7103:0.0:0.0987	5.739	0.17353	878	0.29785	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	710.98	51	chr7	151064613	.	C	T	710.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.970e-01;DP=852;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.41;ReadPosRankSum=0.712;SOR=0.770	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr7	151066958	151066958	C	T	exonic	SLC4A2	.	nonsynonymous SNV	SLC4A2:NM_001199693:exon6:c.C904T:p.R302W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.995	D	0.785	P	0.003	N	1.000	D	1.65	L	-1.03	T	-0.179	T	0.446	T	0.557	4.291	22.4	3.74	1.114	3.330	9.668	0.333	0.496893190781	7.7e-05	.	8.594e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs35016052	8.236e-06	9.577e-06	5.463e-06	1.104e-05	6.035e-05	4.39e-06	3.47e-06	9.99e-06	3.74e-06	6.035e-05	0	0	0	0	0	9.005e-06	0	0	1.315e-05	1.313e-05	2.57e-05	0	4.827e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.827e-05	0	0	0	0	0	0	0	0	0	0.004	0.68238	D	0.011	0.64786	D	0.983	0.63424	D	0.405	0.51788	B	0.003268	0.35183	N	0.229197	0.999807	0.49283	D	2.3	0.65703	M	-1.03	0.76430	T	-2.42	0.53258	N	0.493	0.52651	-0.1786	0.78215	T	0.446	0.78191	T	10	0.4582762	0.59125	T	0.496893	0.95089	D	0.333	0.65522	.	.	0.63773577826	0.63475	0.48697870196597765	0.48617	1.197488769	0.80448	0.794492483139	0.81126	T	0.24799	0.61772	T	-0.127835	0.31845	T	-0.141968	0.59947	T	0.583472788333893	0.35752	D	0.960904	0.85339	D	0.08390903	0.19398	0.09113385	0.21410	0.08390903	0.19398	0.09113385	0.21410	-4.565	0.31729	T	.	.	0.159	0.41063	B	.;.;.;.	.;.;.;.	4.436573	0.68840	25.3	0.99924873647459567	0.98980	0.88661	0.48694	D	AEFBCI	0.619752	0.60507	D	0.312282863632556	0.56779	3.843178	0.295061551808944	0.55249	3.688251	0.999999549024225	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.65	3.74	0.42108	2.937000	0.48672	3.738000	0.39641	0.583000	0.30283	0.990000	0.36992	0.999000	0.35428	0.917000	0.45243	0.2078:0.7922:0.0:0.0	9.668	0.39163	884	0.28482	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1959.98	48	chr7	151066958	.	C	T	1959.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.940e-01;DP=985;ExcessHet=0.0000;FS=0.576;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.02;ReadPosRankSum=0.948;SOR=0.716	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr7	151149131	151149131	C	A	exonic	GBX1	.	nonsynonymous SNV	GBX1:NM_001098834:exon2:c.G550T:p.V184L,	.	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.002	B	0.002	B	0.009	U	1.000	D	0.345	N	-2.8	D	-0.351	T	0.468	T	0.114	0.961	8.919	5.12	2.398	3.237	13.325	0.186	0.0457042781483	.	.	0.0005	0	0	0	0	0.0003	0.0011	0.0023	0.0003816	59	154602	rs757031253	0.0002	0.0002	0.0002	0.0003	0.0018	0.0002	0.0002	0.0016	0.0015	2.988e-05	6.714e-05	0	0	0.0001	0.0003	0.0001	0.0001	0.0018	0.0001	0.0001	0.0002	0.0001	0.0015	9.146e-05	7.702e-05	0.0007	0.0005	0	0	6.539e-05	0	0	0	0	0.0002	0	0.0015	0.33	0.13131	T	0.452	0.12884	T	0.002	0.09854	B	0.002	0.06944	B	0.009292	0.30429	U	0.138248	0.702407	0.30091	N	0.255	0.09829	N	-2.8	0.91076	D	-0.46	0.14978	N	0.042	0.01498	-0.3515	0.73510	T	0.468	0.79497	T	10	0.013121039	0.00279	T	0.045704	0.62109	D	0.186	0.46104	0.262	0.20631	0.856628854582	0.85525	0.07571174283375334	0.07507	0.730581440228	0.62714	0.709222316742	0.68481	T	0.004551	0.03958	T	-0.383473	0.02962	T	-0.330872	0.41371	T	0.0116305838423375	0.00177	T	0.814719	0.46890	T	0.1610981	0.36095	0.15739834	0.36806	0.1610981	0.36095	0.15739834	0.36805	-2.252	0.04300	T	.	.	0.127	0.26917	B	.	.	2.342138	0.30018	18.31	0.91668974463846697	0.20959	0.94115	0.60157	D	AEFDBCI	0.537092	0.55504	D	-0.25105940293182	0.31062	1.73799	-0.0204323576102625	0.38793	2.290655	0.999989098743945	0.51787	0.59774	0.34471	0	0.59043	0.45803	0	0.547309	0.15389	0	0.63947	0.58350	0	.	.	5.12	5.12	0.69459	2.829000	0.47830	4.866000	0.45518	0.549000	0.26987	0.999000	0.42656	1.000000	0.68203	0.999000	0.91618	0.0:0.8416:0.1584:0.0	13.325	0.59891	912	0.21483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	809.98	33	chr7	151149131	.	C	A	809.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.330e-01;DP=770;ExcessHet=0.0000;FS=3.083;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.38;ReadPosRankSum=1.43;SOR=1.123	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr7	151180968	151180968	C	T	exonic	ASB10	.	nonsynonymous SNV	ASB10:NM_001142459:exon3:c.G1075A:p.V359I	Glaucoma 1, open angle, F	.	337	1168	15	2	0	19	0.00806794	.	.	1217971	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.19	T	0.999	D	0.995	D	0.000	N	0.960	N	0.255	N	-0.25	T	-0.851	T	0.242	T	0.131	0.696	7.713	4.24	1.272	1.927	6.877	0.175	.	0.0003	0.0205671	0.0144	0.0006	0.0010	0	0	0.0005	0.0172	0.1226	0.0082793	1280	154602	rs201566253	0.0044	0.0044	0.0024	0.0064	0.0685	0.0043	0.0042	0.0670	0.0664	0.0002	7.314e-05	0	0.0007	0.0001	0.0019	0.0002	0.0049	0.0685	0.0024	0.0024	0.0015	0.0033	0.0703	0.0022	0.0021	0.0641	0.0617	0.0003	0	6.533e-05	0	0.0002	0	0	0.0001	0.0009	0.0703	0.475	0.08917	T	0.686	0.18505	T	0.985	0.61118	D	0.486	0.51761	P	0.000031	0.55875	N	0.122857	0.959583	0.26180	N	0.27	0.09956	N	-0.31	0.68030	T	-0.49	0.18042	N	0.227	0.26354	-0.8513	0.51878	T	0.242	0.61071	T	10	0.0025051832	0.00038	T	.	.	.	0.175	0.44197	.	.	0.337868961071	0.33390	0.0969552435596108	0.09627	0.0568891413586	0.06287	0.655414581299	0.60755	T	0.01083	0.09734	T	-0.533977	0.00364	T	-0.487148	0.23689	T	0.0284593719318178	0.01756	T	0.792821	0.49290	T	0.02369536	0.01131	0.034526173	0.02536	0.028732017	0.02255	0.034526173	0.02535	-6.419	0.49657	T	.	.	0.145	0.33389	B	.;.;.	.;.;.	1.927288	0.24478	16.41	0.9793777323641083	0.37006	0.68740	0.33917	D	AEFDBHCI	0.100005	0.20118	N	0.000967980602212599	0.41900	2.514552	-0.0148498884879075	0.39044	2.309081	0.999462771702338	0.39843	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.12	4.24	0.49486	1.960000	0.40046	3.869000	0.40177	0.549000	0.26987	0.965000	0.33920	1.000000	0.68203	0.013000	0.09966	0.0:0.6944:0.1453:0.1603	6.877	0.23331	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1148.98	35	chr7	151180968	.	C	T	1148.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.504e+00;DP=1401;ExcessHet=0.0000;FS=0.684;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.27;ReadPosRankSum=-3.060e-01;SOR=0.801	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1375	20	0	1	0
chr7	151187668	151187668	G	A	exonic	ASB10	.	nonsynonymous SNV	ASB10:NM_080871:exon1:c.C55T:p.P19S,	Glaucoma 1, open angle, F	.	381	1138	3	0	0	3	0.00131637	.	.	105849	not_provided|Glaucoma_1,_open_angle,_F	MedGen:C3661900|MedGen:C1863926,OMIM:603383	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.26	T	0.005	B	0.004	B	0.302	N	1.000	N	.	.	-0.18	T	-1.010	T	0.145	T	0.182	2.525	14.40	1.82	0.393	1.375	5.912	0.033	0.0273516071072	.	0.000599042	0.0010	0	0.0030	0	0	0.0014	0	0.0006	0.0002393	37	154602	rs104886462	0.0009	0.0009	0.0009	0.0009	0.0018	0.0009	0.0009	0.0010	0.0010	9.689e-05	0.0014	0	0	0.0017	0.0018	0.0010	0.0009	8.139e-05	0.0007	0.0007	0.0007	0.0006	0.0011	0.0006	0.0005	0.0008	0.0007	0.0001	0	0.0011	0	0	0.0013	0	0.0010	0.0005	0	0.105	0.29823	T	0.27	0.22359	T	0.005	0.12996	B	0.004	0.10090	B	0.301683	0.03958	N	1.444430	1	0.08975	N	.	.	.	-0.18	0.65747	T	-1.05	0.27463	N	0.184	0.19995	-1.0099	0.26949	T	0.145	0.46841	T	9	0.0068014264	0.00154	T	0.027352	0.50169	D	0.033	0.08068	.	.	0.181679512989	0.17746	.	.	.	.	.	.	.	.	.	.	-0.454548	0.01061	T	-0.466236	0.25921	T	0.00741413052126573	0.00085	T	0.510449	0.16283	T	.	.	.	.	.	.	.	.	-3.65	0.18582	T	.	.	0.092	0.13737	B	.	.	0.969666	0.13466	9.976	0.99599535577903064	0.74101	0.06696	0.12716	N	AEFDBI	0.081675	0.16529	N	-0.800561013381361	0.13297	0.6539897	-0.847404612047775	0.13349	0.6920643	0.992498677403257	0.32860	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.63	1.82	0.24209	0.953000	0.28759	0.748000	0.21214	0.676000	0.76740	0.001000	0.13787	0.009000	0.19889	0.033000	0.13494	0.329:0.0:0.671:0.0	5.912	0.18273	906	0.23090	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2203.11	36	chr7	151187668	.	G	A	2203.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.55;DP=846;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=-7.660e-01;SOR=0.690	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1020	19	0	2	0
chr7	151192771	151192771	T	C	exonic	IQCA1L	.	nonsynonymous SNV	IQCA1L:NM_001304419:exon16:c.A1904G:p.Y635C,	.	.	3	222	1	0	0	1	0.00224719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs200095758	0.0005	0.0002	0.0004	0.0005	0.0023	0.0004	0.0004	0.0006	0.0003	0.0001	0.0004	0.0028	0	0	0.0023	0.0004	0.0011	0.0003	0.0003	0.0003	0.0002	0.0004	0.0006	0.0002	0.0002	0.0003	0.0002	7.213e-05	0	0.0006	0.0029	0	0	0	0.0003	0.0019	0	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.418	0.45803	.	.	.	.	.	.	.	0.09893179	0.17919	T	.	.	.	.	.	.	.	0.433157607263	0.42933	0.31668162797754207	0.31581	.	.	.	.	.	.	.	.	-0.241007	0.15220	T	-0.277989	0.47011	T	.	.	.	0.79532	0.43818	T	0.18190542	0.39384	0.22968155	0.48048	0.18190542	0.39383	0.22968155	0.48047	-8.664	0.65510	D	.	.	0.080	0.07697	B	.	.	3.323526	0.45721	22.2	0.80449038191334477	0.13208	0.91039	0.52741	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999992051655916	0.74766	0.032271	0.00213	1	0.059962	0.00310	0	0.044551	0.00207	1	0.058706	0.01089	0	0.857527	0.52457	5.02	5.02	0.66742	2.904000	0.48417	3.406000	0.38159	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	12.707	0.56435	906	0.23090	ATPase, AAA-type, core	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1004.98	39	chr7	151192771	.	T	C	1004.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=913;ExcessHet=0.0000;FS=3.474;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.31;ReadPosRankSum=-1.326e+00;SOR=1.071	GT:AD:DP:GQ:PL	0/1:77,44:121:99:1019,0,1954	20	0	1	0
chr7	151197892	151197892	C	T	exonic	IQCA1L	.	nonsynonymous SNV	IQCA1L:NM_001304419:exon7:c.G938A:p.R313Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs560799870	0.0002	0.0001	0.0002	0.0002	0.0008	0.0002	0.0002	0.0002	0.0002	0	0.0001	0	0	0	0.0008	0.0003	0.0003	0	0.0001	0.0001	0.0001	9.421e-05	0.0002	7.094e-05	5.75e-05	0.0001	0.0001	2.416e-05	0	0	0	0	0	0	0.0002	0	0.0002	.	.	.	0.053	0.47336	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.07125	.	.	.	.	.	.	.	0.046534985	0.03856	T	.	.	.	.	.	.	.	0.149567049428	0.14543	0.1894442927641504	0.18862	.	.	.	.	.	0.026272	0.19479	T	-0.322309	0.06711	T	-0.700751	0.05784	T	.	.	.	0.193581	0.02086	T	0.027315894	0.01907	0.067590825	0.14004	0.027315894	0.01906	0.067590825	0.14004	-5.102	0.37929	T	.	.	0.086	0.10739	B	.	.	0.767557	0.11374	7.989	0.64949739552921271	0.07635	0.05586	0.11488	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.0709824350719956	0.15550	0.06567	0.01388	0	0.059962	0.00310	0	0.060301	0.00762	0	0.075334	0.01956	0	0.0973319	0.21781	4.81	1.51	0.22094	-1.591000	0.02204	-1.439000	0.05437	-1.714000	0.00739	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6188:0.0:0.3812	5.707	0.17186	906	0.23090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1239.98	35	chr7	151197892	.	C	T	1239.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.550;DP=804;ExcessHet=0.0000;FS=1.680;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=0.594;SOR=0.524	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1500	20	0	1	0
chr7	151381667	151381667	G	A	exonic	WDR86	.	nonsynonymous SNV	WDR86:NM_001284261:exon5:c.C526T:p.R176C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.004	B	0.0	B	0.898	U	1.000	N	0.345	N	0.26	T	-1.004	T	0.084	T	.	2.306	13.67	-1.61	0.220	1.221	0.243	0.112	0.737852016634	.	.	.	.	.	.	.	.	.	.	.	.	.	rs886465924	1.112e-05	1.642e-05	1.243e-05	9.747e-06	8.307e-05	6.45e-06	5.05e-06	1.474e-05	6.14e-06	8.307e-05	0	0	0	0	0	1.073e-05	0	1.679e-05	2.63e-05	2.627e-05	1.285e-05	4.037e-05	9.654e-05	8.14e-06	5.14e-06	3.25e-05	1.915e-05	9.654e-05	0	0	0	0	0	0	0	0	0	0.236	0.17940	T	0.247	0.49663	T	0.017	0.17573	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	0.47	0.56114	T	-1.72	0.40850	N	0.088	0.06587	-1.0045	0.28607	T	0.084	0.32900	T	9	0.21259755	0.37725	T	0.737852	0.97897	D	0.112	0.31546	0.255	0.19533	0.184867976434	0.18130	.	.	1.14391330871	0.79018	0.786680161953	0.79937	T	0.004559	0.03968	T	-0.162917	0.26311	T	-0.471795	0.25323	T	0.654710590839386	0.38665	D	0.493751	0.15260	T	0.025361499	0.01466	0.044405244	0.05746	0.025361499	0.01465	0.044405244	0.05746	-3.466	0.15959	T	.	.	0.099	0.16800	B	.;.	.;.	1.275245	0.16744	12.74	0.99693332183539729	0.80112	0.01527	0.05031	N	AEFDBHCIJ	0.046630	0.07764	N	-1.03648039657157	0.07855	0.3663363	-1.08168941112833	0.08061	0.3947164	0.999956853823855	0.48110	0.652421	0.48094	0	0.606814	0.50340	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	4.28	-1.61	0.07951	2.586000	0.45785	1.198000	0.24816	0.588000	0.31329	0.190000	0.24188	0.163000	0.23278	0.016000	0.10718	0.2443:0.1699:0.2961:0.2897	0.243	0.00181	952	0.10565	WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	472.98	17	chr7	151381667	.	G	A	472.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=555;ExcessHet=0.0000;FS=3.698;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.77;ReadPosRankSum=1.70;SOR=0.257	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:20,0:20:60:.:.:0,60,691	20	0	1	0
chr7	151781320	151781320	C	T	exonic	PRKAG2	.	nonsynonymous SNV	PRKAG2:NM_001040633:exon3:c.G166A:p.G56S	Cardiomyopathy, hypertrophic 6, Autosomal dominant;Glycogen storage disease of heart, lethal congenital, Autosomal dominant;Wolff-Parkinson-White syndrome, ?Autosomal dominant	.	0	1484	38	0	0	38	0.0126414	.	.	45358	not_provided|Renal_cysts_and_diabetes_syndrome|Cardiomyopathy|PRKAG2_cardiac_syndrome|Lethal_congenital_glycogen_storage_disease_of_heart|Wolff-Parkinson-White_pattern|not_specified|Cardiovascular_phenotype|Hypertrophic_cardiomyopathy_6	MedGen:C3661900|MONDO:MONDO:0007669,MedGen:C0431693,OMIM:137920,Orphanet:93111|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN221579|MONDO:MONDO:0009867,MedGen:C1849813,OMIM:261740,Orphanet:439854|Human_Phenotype_Ontology:HP:0001716,MONDO:MONDO:0008685,MedGen:C0043202,OMIM:194200,Orphanet:907|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010946,MedGen:C1833236,OMIM:600858	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.907	P	0.205	B	0.001	N	1.000	D	0.975	L	-1.98	D	-0.503	T	0.157	T	0.206	2.766	15.21	4.08	1.081	2.008	12.384	0.730	.	0.0008	0.0145767	0.0081	0.0006	0.0010	0.0355	0	0.0008	0.0101	0.0358	0.0071409	1104	154602	rs79474211	0.0043	0.0043	0.0035	0.0052	0.0541	0.0042	0.0042	0.0522	0.0514	0.0018	0.0011	0.0010	0.0541	0.0002	0.0140	0.0005	0.0066	0.0348	0.0031	0.0031	0.0024	0.0038	0.0360	0.0029	0.0028	0.0318	0.0301	0.0007	0.0099	0.0010	0.0009	0.0360	0	0.0205	0.0007	0.0052	0.0343	0.109	0.46129	T	0.14	0.33554	T	0.907	0.50062	P	0.205	0.37080	B	0.001201	0.39820	N	0.232951	0.998981	0.45816	D	1.405	0.35469	L	-1.98	0.87989	D	-0.82	0.23156	N	0.257	0.29313	-0.5035	0.68523	T	0.157	0.48959	T	10	0.0072490573	0.00165	T	.	.	.	0.730	0.90545	.	.	0.708777450051	0.70623	0.2238368867238497	0.22298	0.13916893508	0.15685	0.522185921669	0.41933	T	0.054731	0.29808	T	-0.388771	0.02740	T	-0.281752	0.46623	T	0.0104251597581125	0.00143	T	0.70393	0.31399	T	0.12016292	0.28280	0.119865134	0.28929	0.11875115	0.27972	0.1156467	0.27917	-2.981	0.10310	T	.	.	0.079	0.07985	B	.;.	.;.	2.751296	0.36062	20.2	0.99634586419861892	0.76264	0.62343	0.31753	D	AEFDBI	0.201863	0.32850	N	0.0362395582159843	0.43511	2.642547	0.0820868581914568	0.43649	2.66225	0.99962048104306	0.41093	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.613276	0.41899	0	.	.	4.96	4.08	0.46880	2.059000	0.41010	0.536000	0.19291	0.580000	0.29708	0.946000	0.32893	0.079000	0.22353	0.252000	0.23314	0.0:0.9185:0.0:0.0815	12.384	0.54652	450	0.79359	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1971.98	44	chr7	151781320	.	C	T	1971.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.000e-03;DP=906;ExcessHet=0.0000;FS=1.937;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=-2.100e-02;SOR=0.532	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1438	20	0	1	0
chr7	151987209	151987209	G	A	exonic	GALNTL5	.	nonsynonymous SNV	GALNTL5:NM_145292:exon5:c.G586A:p.V196I,	.	.	424	1073	25	0	0	25	0.0115154	.	.	699950	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.001	B	0.651	N	1.000	N	0.655	N	0.32	T	-1.058	T	0.049	T	0.1	-0.770	0.760	-2.27	-0.480	0.325	5.790	0.065	.	0.0039	0.00439297	0.0060	0.0014	0.0057	0	0.0326	0.0056	0.0223	0.0023	0.0054721	846	154602	rs75797831	0.0048	0.0048	0.0047	0.0048	0.0218	0.0047	0.0047	0.0187	0.0176	0.0027	0.0058	0.0100	0	0.0272	0.0218	0.0038	0.0067	0.0021	0.0067	0.0067	0.0053	0.0083	0.0125	0.0064	0.0063	0.0110	0.0105	0.0022	0	0.0125	0.0127	0.0002	0.0312	0.0578	0.0046	0.0147	0.0006	0.736	0.03741	T	0.481	0.11864	T	0.0	0.02946	B	0.001	0.04355	B	0.650717	0.10516	N	0.794352	1	0.08975	N	0.25	0.09762	N	0.32	0.58468	T	-0.18	0.09796	N	0.17	0.18103	-1.0575	0.12388	T	0.049	0.20868	T	10	0.0029007494	0.00046	T	.	.	.	0.065	0.18881	.	.	0.0716867268079	0.06686	0.21243792671788078	0.21159	0.0131421107814	0.01263	0.443033277988	0.30992	T	0.02318	0.17738	T	-0.596371	0.00153	T	-0.627088	0.10637	T	0.000909475795523295	0.00009	T	0.213579	0.02626	T	0.03933567	0.05411	0.029268753	0.01247	0.03933567	0.05410	0.029268753	0.01247	-5.203	0.38972	T	.	.	0.069	0.03128	B	.;.;.	.;.;.	0.252014	0.06311	2.771	0.49594697566440277	0.04237	0.06287	0.12280	N	AEFBI	0.027220	0.02186	N	-1.05306339950596	0.07527	0.3499839	-1.02327320597336	0.09274	0.4604767	1.76016303714589E-4	0.05786	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	4.3	-2.27	0.06458	0.341000	0.19652	-0.002000	0.13189	-0.087000	0.16196	0.841000	0.30301	0.000000	0.08366	0.988000	0.63387	0.4104:0.1574:0.4322:0.0	5.790	0.17617	643	0.63827	Glycosyltransferase 2-like;Glycosyltransferase 2-like;Glycosyltransferase 2-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	466.98	38	chr7	151987209	.	G	A	466.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.35;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.91;ReadPosRankSum=0.562;SOR=0.784	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,976	20	0	1	0
chr7	152181339	152181339	T	C	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon36:c.A6521G:p.Y2174C,	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.001	D	1.000	D	2.28	M	-2.07	D	0.716	D	0.779	D	0.76	2.597	14.64	5.51	2.103	7.779	15.640	0.613	0.114950253418	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1291570152	6.156e-06	6.84e-06	8.167e-06	4.125e-06	2.987e-05	2.9e-06	2.1e-06	1.32e-06	9.6e-07	2.987e-05	0	0	0	1.872e-05	0	4.496e-06	1.656e-05	1.159e-05	6.581e-06	1.314e-05	0	1.348e-05	.	0	0	.	.	0	0	0	0	0	9.422e-05	0	0	0	0	0.0	0.91255	D	.	.	.	1.0	0.90584	D	0.998	0.88582	D	0.000730	0.42129	D	0.000000	0.999997	0.58761	D	3.08	0.87267	M	-2.08	0.86010	D	-6.17	0.90254	D	0.816	0.81162	0.716	0.93373	D	0.779	0.92488	D	10	0.8140197	0.80658	D	0.11495	0.79397	D	0.613	0.84879	0.185	0.09388	0.690091122468	0.68742	0.43495468076497434	0.43412	0.495590999531	0.48094	0.59093183279	0.51626	T	0.565843	0.85544	D	0.202479	0.74123	D	0.149925	0.80179	D	0.962377090918346	0.66350	D	0.947205	0.79675	D	0.6380233	0.74725	0.5481865	0.73880	0.6380233	0.74726	0.5481865	0.73880	-9.623	0.71622	D	0.7459512599296302	0.82804	0.233	0.46619	B	.;.	.;.	4.091759	0.60950	24.3	0.99256555977593341	0.57055	0.99046	0.90435	D	AEFBCI	0.886082	0.81716	D	0.705313728838601	0.79981	7.194058	0.645342435298912	0.78264	6.841361	0.999999125642824	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.51	5.51	0.81769	3.404000	0.52371	6.128000	0.53877	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:0.0:0.0:1.0	15.640	0.76741	840	0.37365	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1647.98	33	chr7	152181339	.	T	C	1647.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.270e-01;DP=792;ExcessHet=0.0000;FS=1.601;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.85;ReadPosRankSum=-7.790e-01;SOR=0.520	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1420	20	0	1	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H,	.	YES	526	320	669	7	0	683	0.516251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.002	U	1.000	D	2.11	M	-2.28	D	0.656	D	0.754	D	0.82	3.081	16.29	4.67	1.866	9.283	14.405	0.432	.	.	.	0.4728	0.4914	0.4863	0.4887	0.4732	0.4636	0.4765	0.4809	0.0018057	47	26028	rs77735469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.001979	0.37549	U	0.000000	0.971252	0.38857	D	2.22	0.62911	M	-2.28	0.87512	D	-4.01	0.75456	D	0.934	0.93959	0.656	0.92620	D	0.754	0.91609	D	10	0.012159407	0.00262	T	.	.	.	0.815	0.94046	.	.	.	.	0.5529033843776924	0.55216	2.65390431601	0.98462	0.900072455406	0.96449	D	0.576893	0.86083	D	0.315486	0.84148	D	0.215397	0.83941	D	0.0127532117779022	0.00216	T	0.984602	0.94707	D	0.6018943	0.72793	0.5814447	0.75738	0.6018943	0.72794	0.5814447	0.75739	-9.256	0.69330	D	0.6635921527459159	0.73748	0.854	0.79986	P	.;.	.;.	4.408107	0.68175	25.2	0.99273378386417865	0.57627	0.99067	0.90742	D	AEFBI	0.864295	0.78306	D	0.740431229350387	0.82279	7.723933	0.698705506977523	0.82280	7.728171	0.999787248307013	0.43007	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.67	4.67	0.58089	9.318000	0.95450	11.148000	0.87267	0.689000	0.82905	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.405	0.66648	929	0.16858	Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type;Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4048	21206.9	371	chr7	152229940	.	A	G	21206.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-6.890e-01;DP=6803;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=44.68;MQRankSum=0.452;QD=3.93;ReadPosRankSum=0.208;SOR=0.720	GT:AD:DP:GQ:PL	0/1:224,78:302:99:1188,0,7413	4	0	17	0
chr7	152235831	152235831	C	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon16:c.G2755C:p.V919L,	.	.	523	804	188	7	0	202	0.111602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.98	T	0.005	B	0.006	B	0.001	D	1.000	D	0.895	L	-1.76	D	-0.782	T	0.290	T	0.172	1.461	10.83	3.05	1.220	0.832	9.075	0.184	.	.	.	0.3064	0.3892	0.3854	0.3769	0.3614	0.2662	0.3017	0.2987	0.0009221	24	26028	rs111791757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465	0.08609	T	.	.	.	0.005	0.12996	B	0.006	0.12133	B	0.000997	0.40743	D	0.000000	0.909796	0.27531	N	1.04	0.26193	L	-1.76	0.83578	D	-0.87	0.23590	N	0.351	0.39254	-0.7817	0.56206	T	0.290	0.66182	T	10	0.001721412	0.00022	T	.	.	.	0.190	0.46781	.	.	.	.	0.3939079229526045	0.39305	1.16460324479	0.79582	0.551522254944	0.46072	T	0.082871	0.36927	T	-0.0536841	0.43886	T	-0.31489	0.43132	T	0.00291439180401243	0.00030	T	0.782522	0.41827	T	0.11401484	0.26920	0.058207095	0.10716	0.11401484	0.26920	0.058207095	0.10716	-2.714	0.07421	T	0.21301624123496365	0.28594	0.155	0.34361	B	.;.	.;.	2.476867	0.31934	18.89	0.93460886301440382	0.23247	0.88481	0.48429	D	AEFBI	0.274499	0.38967	N	-0.471234561374049	0.23027	1.233672	-0.289425091573026	0.28446	1.586133	2.17144164743047E-4	0.05997	0.736574	0.97449	0	0.732669	0.95671	0	0.601832	0.32385	0	0.756605	0.99741	0	.	.	5.0	3.05	0.34272	0.914000	0.28246	0.910000	0.22619	0.549000	0.26987	0.989000	0.36753	0.340000	0.24418	0.997000	0.79791	0.0:0.6447:0.2767:0.0786	9.075	0.35674	934	0.15400	.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.07143	208.62	107	chr7	152235831	.	C	G	208.62	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.229;DP=1903;ExcessHet=0.3300;FS=7.943;InbreedingCoeff=-0.0717;MLEAC=2;MLEAF=0.048;MQ=50.91;MQRankSum=-2.006e+00;QD=0.78;ReadPosRankSum=-1.391e+00;SOR=1.522	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485	18	0	3	0
chr7	152248140	152248140	T	C	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon14:c.A2294G:p.E765G,	.	.	414	990	118	0	0	118	0.056244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.06	B	0.018	B	0.000	D	1.000	D	1.04	L	-1.93	D	-0.559	T	0.389	T	0.273	1.221	9.954	4.53	0.983	2.545	8.793	0.213	.	.	.	0.0302	0.0363	0.0099	0.0104	0.0305	0.0277	0.0379	0.0610	0.0002305	6	26028	rs202098135	6.94e-06	0.0013	1.382e-06	1.255e-05	3.545e-05	3.51e-06	2.56e-06	9.42e-06	4.61e-06	0	2.26e-05	0	0	0	0	4.565e-06	1.676e-05	3.545e-05	2.645e-05	0.0017	0	5.412e-05	7.298e-05	8.18e-06	5.17e-06	1.935e-05	1.036e-05	7.298e-05	0	6.568e-05	0	0	0	0	0	0	0	0.004	0.68238	D	.	.	.	0.06	0.23119	B	0.018	0.18489	B	0.000267	0.46590	D	0.000000	0.84987	0.35204	D	2.38	0.68558	M	-1.93	0.84919	D	-3.01	0.62518	D	0.21	0.23380	-0.5589	0.66446	T	0.389	0.74327	T	10	0.004967302	0.00106	T	.	.	.	0.213	0.50496	.	.	.	.	0.4837393690712426	0.48293	0.0330274093867	0.03452	0.340184807777	0.16466	T	0.358057	0.72467	T	0.0232051	0.54813	T	-0.204444	0.54224	T	0.0378793499843809	0.03311	T	0.818018	0.47523	T	0.14122255	0.32550	0.16089383	0.37452	0.14122255	0.32549	0.16089383	0.37451	-4.695	0.33343	T	0.399851985512444	0.49182	0.086	0.10883	B	.;.	.;.	2.783319	0.36570	20.3	0.99485148167057358	0.67124	0.93407	0.58135	D	AEFGBI	0.154510	0.27954	N	-0.430237841499609	0.24415	1.318133	-0.330419226512641	0.27121	1.502754	0.958528990205834	0.28368	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.68	4.53	0.55009	2.762000	0.47278	1.545000	0.27254	0.665000	0.62972	0.998000	0.41325	0.991000	0.31484	0.326000	0.25110	0.0:0.1446:0.0:0.8554	8.793	0.34025	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	170.98	158	chr7	152248140	.	T	C	170.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.720;DP=2930;ExcessHet=0.0000;FS=62.911;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=50.24;MQRankSum=-4.395e+00;QD=1.02;ReadPosRankSum=2.27;SOR=6.101	GT:AD:DP:GQ:PL	0/0:181,0:181:99:0,120,1800	20	0	1	0
chr7	152248171	152248171	G	A	exonic	KMT2C	.	stopgain	KMT2C:NM_170606:exon14:c.C2263T:p.Q755X,	.	.	418	977	127	0	0	127	0.0610284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.507	N	1.000	N	.	.	.	.	.	.	.	.	.	6.978	38	2.44	0.630	0.436	1.678	.	.	.	.	0.0416	0.1069	0.0224	0.0563	0.0442	0.0281	0.0509	0.0646	0.0003458	9	26028	rs201234598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507052	0.05125	N	1.373010	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.772	0.76946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207808	0.74625	D	0.0607255	0.74294	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	6.010711	0.94333	34	0.99557216609082289	0.71521	0.06104	0.12080	N	AEFGBI	0.041531	0.06327	N	0.101422309534251	0.46529	2.891879	-0.202886129060462	0.31431	1.778824	0.384391544153175	0.19989	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.53	2.44	0.28875	0.459000	0.21619	2.861000	0.35203	0.676000	0.76740	0.094000	0.22667	0.999000	0.35428	0.188000	0.21541	0.1392:0.2962:0.2939:0.2707	1.678	0.02655	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.125	797.32	165	chr7	152248171	.	G	A	797.32	.	AC=5;AF=0.125;AN=40;BaseQRankSum=5.98;DP=2497;ExcessHet=1.1607;FS=41.174;InbreedingCoeff=-0.1528;MLEAC=5;MLEAF=0.125;MQ=48.99;MQRankSum=-6.374e+00;QD=0.93;ReadPosRankSum=0.070;SOR=8.357	GT:AD:DP:GQ:PL	./.:180,0:180:0:0,0,5132	15	0	5	1
chr7	152265205	152265205	C	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon8:c.G1017C:p.K339N,	.	.	421	1051	50	0	0	50	0.0232342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.999	D	0.991	D	0.001	U	1.000	D	1.04	L	-5.16	D	0.881	D	0.928	D	0.158	0.401	6.180	3.77	1.072	1.789	11.249	0.572	.	.	.	0.0021	0.0111	0.0007	0.0018	0.0005	0.0010	0	0.0035	0.0006147	16	26028	rs775803041	5.981e-05	0.0076	4.535e-05	7.442e-05	0.0003	4.937e-05	4.544e-05	0.0002	0.0001	0.0003	9.457e-05	4.025e-05	0.0002	3.892e-05	0	3.535e-05	5.168e-05	0.0002	3.333e-05	0.0021	1.302e-05	5.465e-05	0.0002	1.275e-05	8.08e-06	8.19e-06	3.07e-06	4.945e-05	0	0	0	0	0	0	1.482e-05	0.0005	0.0002	0.246	0.17353	T	.	.	.	0.999	0.77913	D	0.991	0.79672	D	0.000576	0.43250	U	0.000000	0.938391	0.37224	D	1.445	0.36358	L	-5.16	0.98796	D	-2.17	0.49018	N	0.586	0.60664	0.881	0.95424	D	0.928	0.97621	D	10	0.022789448	0.00578	T	.	.	.	0.572	0.82629	0.4	0.42917	0.863302321749	0.86197	0.9070440576430164	0.90677	3.14057088863	0.99419	0.771010279655	0.77576	T	0.079823	0.36220	T	0.0848077	0.62599	D	-0.115956	0.62133	T	0.085914246737957	0.10725	T	0.856014	0.54441	D	0.14069383	0.32450	0.13352853	0.32017	0.14069383	0.32450	0.13352853	0.32016	-7.908	0.60442	D	0.7078248139639416	0.78764	0.700	0.72955	P	.;.	.;.	4.007063	0.59081	24.1	0.98560692262797078	0.42973	0.86679	0.46011	D	AEFDGI	0.317148	0.42122	N	-0.0667300470696601	0.38857	2.282421	-0.115006256874915	0.34785	2.004846	0.502645286987131	0.20955	0.706548	0.73137	0	0.724815	0.89359	0	0.601832	0.32385	0	0.74596	0.99574	0	.	.	4.65	3.77	0.42499	1.960000	0.40046	3.951000	0.40674	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.8451:0.0:0.1549	11.249	0.48247	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.09524	518.92	323	chr7	152265205	.	C	G	518.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-1.361e+00;DP=4176;ExcessHet=0.6776;FS=2.065;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=46.72;MQRankSum=-4.333e+00;QD=0.48;ReadPosRankSum=-1.062e+00;SOR=1.120	GT:AD:DP:GQ:PL	0/0:210,0:210:99:0,120,1800	17	0	4	0
chr7	154969059	154969059	T	C	exonic	PAXIP1	.	nonsynonymous SNV	PAXIP1:NM_007349:exon7:c.A1142G:p.H381R,	.	.	419	1094	7	2	0	11	0.00500227	.	.	2678938	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.44	T	0.998	D	0.876	P	0.001	U	0.673	D	0.895	L	1.03	T	-0.861	T	0.133	T	0.285	1.152	9.691	4.2	0.857	2.924	12.486	0.054	0.00759713319504	.	.	0.0001	0	0	0	0	0	0	0.0007	4.53e-05	7	154602	rs772247568	4.74e-05	5.336e-05	3.573e-05	5.955e-05	0.0010	3.81e-05	3.472e-05	0.0004	0.0003	0	5.955e-05	0	0	0	0.0010	1.507e-05	0.0001	0.0005	2.626e-05	2.625e-05	0	5.369e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.112	0.28900	T	0.142	0.33330	T	0.907	0.50062	P	0.276	0.40142	B	0.000859	0.41440	U	0.100459	0.672558	0.33156	D	2.095	0.58118	M	1.03	0.40469	T	-2.97	0.61865	D	0.493	0.53006	-0.8607	0.51213	T	0.133	0.44544	T	10	0.17956463	0.33097	T	0.007597	0.20166	T	0.054	0.15330	0.216	0.13643	0.472611402724	0.46890	0.17942214701278858	0.17861	0.211083843637	0.23619	0.479331880808	0.35965	T	0.427868	0.77720	T	-0.385794	0.02862	T	-0.434458	0.29431	T	0.122719976915623	0.14694	T	0.50295	0.15803	T	0.11902484	0.28033	0.13993303	0.33371	0.11902484	0.28033	0.13993303	0.33370	-3.624	0.18204	T	.	.	0.169	0.37140	B	.;.	.;.	2.574727	0.33367	19.32	0.9173956141637164	0.21037	0.92265	0.55315	D	AEFBI	0.240441	0.36223	N	0.0352313648512142	0.43463	2.638797	0.0701974879351378	0.43058	2.615523	0.731593152916455	0.23054	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.37	4.2	0.48814	3.040000	0.49489	4.136000	0.42059	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.705000	0.34296	0.0:0.0:0.1398:0.8602	12.486	0.55218	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1308.98	43	chr7	154969059	.	T	C	1308.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.325e+00;DP=907;ExcessHet=0.0000;FS=3.422;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.28;ReadPosRankSum=0.470;SOR=0.445	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	20	0	1	0
chr7	155071450	155071450	C	T	exonic	HTR5A	.	nonsynonymous SNV	HTR5A:NM_024012:exon1:c.C551T:p.T184M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.996	D	0.919	D	0.000	D	1.000	D	2.14	M	1.17	T	-0.771	T	0.188	T	0.598	2.972	15.91	3.78	1.196	4.454	12.854	0.200	0.0284472445562	.	0.000199681	0.0003	9.623e-05	0	0	0	1.501e-05	0.0022	0.0019	0.0002393	37	154602	rs569927491	0.0002	0.0002	0.0001	0.0002	0.0020	0.0001	0.0001	0.0018	0.0017	8.961e-05	0	0	0	0	0.0003	3.507e-05	0.0002	0.0020	0.0001	0.0001	0.0001	0.0001	0.0017	7.57e-05	6.276e-05	0.0008	0.0006	0.0002	0	0	0	0	0	0	2.94e-05	0	0.0017	0.053	0.38863	T	0.039	0.51112	D	0.996	0.68779	D	0.919	0.65474	D	0.000000	0.84330	D	0.047774	0.999995	0.81001	D	2.405	0.69568	M	1.17	0.37910	T	-1.62	0.38924	N	0.661	0.67045	-0.7710	0.56803	T	0.188	0.53827	T	10	0.03589827	0.01861	T	0.028447	0.51122	D	0.200	0.48430	0.463	0.53242	0.770394142349	0.76829	0.6810558736863431	0.68044	0.447049120517	0.44571	0.581177353859	0.50251	T	0.208896	0.56896	T	-0.353516	0.04510	T	-0.287842	0.45995	T	0.0607763927842921	0.07290	T	0.949005	0.80370	D	0.19906025	0.41831	0.3077737	0.56798	0.19906025	0.41831	0.3077737	0.56797	-6.581	0.50907	T	.	.	0.081	0.08320	B	.;.	.;.	4.000133	0.58941	24.0	0.99825664608293474	0.90764	0.82990	0.42148	D	AEFDBCI	0.415022	0.48405	N	0.489409344302864	0.66469	4.954278	0.412443714762061	0.62339	4.447701	0.944925985339543	0.27637	0.59774	0.34471	0	0.573888	0.26702	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	4.66	3.78	0.42629	4.675000	0.61310	1.680000	0.28007	0.599000	0.40250	1.000000	0.71638	0.990000	0.31317	0.897000	0.43391	0.0:0.9216:0.0:0.0784	12.854	0.57263	988	0.01987	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1693.98	41	chr7	155071450	.	C	T	1693.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.82;DP=939;ExcessHet=0.0000;FS=1.473;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.24;ReadPosRankSum=-5.260e-01;SOR=0.855	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,115,1800	20	0	1	0
chr7	155298640	155298640	A	T	exonic	INSIG1	.	nonsynonymous SNV	INSIG1:NM_001346590:exon2:c.A355T:p.I119F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.999	D	0.984	D	0.000	N	1.000	D	1.7	L	0.81	T	-0.744	T	0.251	T	0.484	3.623	18.43	3.85	0.775	4.605	10.021	0.147	0.0278392508602	.	.	8.573e-06	0	0	0	0	1.55e-05	0	0	6.5e-06	1	154602	rs750266191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.68238	T	0.025	0.65728	D	0.968	0.56581	D	0.713	0.54588	P	0.000495	0.43931	N	0.255608	0.98834	0.81001	D	1.65	0.42232	L	0.81	0.56609	T	-1.53	0.62863	N	0.526	0.55540	-0.7440	0.58247	T	0.251	0.62084	T	10	0.37548414	0.53799	T	0.027839	0.50599	D	0.228	0.52768	0.397	0.42426	0.717526509295	0.71504	0.8274739739154022	0.82705	2.18152949631	0.95580	0.717667460442	0.69706	T	0.185169	0.53806	T	0.00593656	0.52471	T	-0.229249	0.51844	T	0.538156261461367	0.34036	D	0.918808	0.70803	D	0.12988703	0.30324	0.13005187	0.31258	0.12988703	0.30324	0.13005187	0.31257	-6.343	0.49063	T	.	.	0.180	0.63028	B	.;.;.	.;.;.	4.235839	0.64182	24.7	0.97925468199428811	0.36914	0.88849	0.48978	D	AEFDGBHCI	0.840807	0.75806	D	0.17479797125814	0.49992	3.193591	0.0721779386947367	0.43157	2.623202	0.999999999814312	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	4.99	3.85	0.43556	4.601000	0.60798	2.862000	0.35209	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	0.918000	0.45347	0.9199:0.0:0.0801:0.0	10.021	0.41214	975	0.05339	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1489.98	37	chr7	155298640	.	A	T	1489.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.49;DP=816;ExcessHet=0.0000;FS=5.905;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=0.522;SOR=0.956	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,993	20	0	1	0
chr7	155803487	155803487	C	G	exonic	SHH	.	nonsynonymous SNV	SHH:NM_000193:exon3:c.G802C:p.A268P,	Holoprosencephaly 3, Autosomal dominant;Microphthalmia with coloboma 5, Autosomal dominant;Schizencephaly;Single median maxillary central incisor, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.258	B	0.228	B	0.000	D	1.000	D	0.75	N	-4.86	D	0.549	D	0.830	D	0.363	0.456	6.476	4.12	2.129	2.541	12.454	0.531	0.929908519365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.258	0.31443	B	0.121	0.32300	B	0.000000	0.84330	D	0.000000	0.999991	0.58761	D	1.05	0.26816	L	-4.86	0.98263	D	-1.27	0.31981	N	0.251	0.28381	0.549	0.91219	D	0.830	0.94295	D	10	0.45045885	0.58665	T	0.929909	0.99492	D	0.531	0.80247	0.576	0.70087	0.771053052823	0.76896	0.9580671174330196	0.95791	.	.	0.931257367134	0.99057	D	0.728189	0.92371	D	0.127049	0.67072	D	-0.0552787	0.66660	D	0.868822753429413	0.51878	D	0.829317	0.49436	T	0.5914908	0.72232	0.64632607	0.79320	0.5914908	0.72233	0.64632607	0.79321	-0.13	0.00398	T	0.1364687507270471	0.14926	0.298	0.52801	B	.	.	4.011149	0.59175	24.1	0.92751686068945594	0.22259	0.80006	0.39762	D	AEFDBCI	0.447214	0.50295	N	-0.271550458432851	0.30252	1.685053	-0.113508721973917	0.34844	2.008991	0.999999901268653	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.616487	0.41570	0	0.554799	0.18163	0	.	.	4.12	4.12	0.47504	2.123000	0.41620	2.971000	0.35798	0.547000	0.25779	0.971000	0.34370	0.997000	0.33255	0.985000	0.61073	0.0:0.8311:0.1688:0.0	12.454	0.55031	994	0.00715	Hedgehog protein, Hint domain|Hint domain N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	798.98	34	chr7	155803487	.	C	G	798.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.369;DP=779;ExcessHet=0.0000;FS=3.358;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=-1.124e+00;SOR=0.386	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1097	20	0	1	0
chr7	156684161	156684161	G	A	exonic	LMBR1	.	nonsynonymous SNV	LMBR1:NM_001350954:exon15:c.C949T:p.L317F	Acheiropody, Autosomal recessive;Hypoplastic or aplastic tibia with polydactyly, Autosomal dominant;Laurin-Sandrow syndrome, Autosomal dominant;Polydactyly, preaxial type II, Autosomal dominant;Syndactyly, type IV, Autosomal dominant;Triphalangeal thumb, type I, Autosomal dominant;Triphalangeal thumb-polysyndactyly syndrome, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	1501567	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.986	D	0.655	P	0.000	D	1.000	N	1.955	M	1.19	T	-0.830	T	0.165	T	0.615	3.306	17.11	5.09	2.358	4.092	7.000	0.123	0.0118915031738	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1444445309	1.095e-05	1.163e-05	1.362e-05	8.255e-06	0.0002	6.48e-06	5.25e-06	5.31e-06	3.88e-06	0	0	0	0	0	0.0002	9.9e-06	6.628e-05	0	6.576e-06	6.568e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.116	0.72154	T	0.022	0.57587	D	0.986	0.61523	D	0.655	0.52639	P	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	0.82	0.48460	T	-0.66	0.45042	N	0.59	0.80083	-0.8299	0.53308	T	0.165	0.50340	T	10	0.3414306	0.53324	T	0.011892	0.29959	T	0.123	0.34020	0.422	0.46529	0.717107461095	0.71462	0.45860034565847346	0.45778	0.533384031208	0.50776	0.700018525124	0.67146	T	0.187829	0.54155	T	-0.00663905	0.50736	T	-0.247313	0.50082	T	0.969504415988922	0.68613	D	0.950605	0.81072	D	0.08893416	0.20763	0.11872298	0.28657	0.08893416	0.20763	0.11872298	0.28656	-6.053	0.46720	T	0.15289125767676198	0.18145	0.134	0.29172	B	.;.;.	.;.;.	4.544327	0.71454	25.7	0.99798671825867225	0.88372	0.92221	0.55216	D	AEFBI	0.509966	0.53921	D	0.383908934280825	0.60551	4.245117	0.445707397034283	0.64440	4.699457	0.985022730521471	0.30815	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.09	5.09	0.68647	4.137000	0.57773	11.459000	0.92821	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2179:0.0:0.7821:0.0	7.000	0.23982	939	0.14249	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	717.98	40	chr7	156684161	.	G	A	717.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.900e-01;DP=803;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.55;ReadPosRankSum=-6.310e-01;SOR=0.771	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1155	20	0	1	0
chr7	156736513	156736513	C	G	exonic	LMBR1	.	nonsynonymous SNV	LMBR1:NM_001350953:exon10:c.G860C:p.G287A	Acheiropody, Autosomal recessive;Hypoplastic or aplastic tibia with polydactyly, Autosomal dominant;Laurin-Sandrow syndrome, Autosomal dominant;Polydactyly, preaxial type II, Autosomal dominant;Syndactyly, type IV, Autosomal dominant;Triphalangeal thumb, type I, Autosomal dominant;Triphalangeal thumb-polysyndactyly syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.0	B	0.0	B	0.003	U	1.000	N	.	.	1.07	T	-1.035	T	0.036	T	0.039	-1.751	0.010	-1.69	-0.490	-0.887	2.769	0.015	0.00150614267822	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.737	0.03730	T	0.742	0.04947	T	.	.	.	.	.	.	0.003055	0.35512	U	0.000000	1	0.08975	N	.	.	.	1.07	0.39586	T	0.36	0.03700	N	.	.	-1.0354	0.18731	T	0.036	0.15683	T	9	0.061228067	0.07643	T	0.001506	0.02318	T	0.015	0.02232	.	.	0.0551355673512	0.04727	.	.	.	.	.	.	.	0.00383	0.03242	T	-0.375517	0.03324	T	-0.777181	0.02539	T	0.0953895747661591	0.11842	T	0.426357	0.11459	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.18037	B	.	.	-0.217594	0.03003	0.453	0.096758296991010767	0.00104	0.00485	0.02305	N	AEFBI	0.066300	0.12978	N	-1.38224089824468	0.02805	0.1243675	-1.49979183924639	0.02347	0.1077814	0.10501068513891	0.16491	0.559995	0.30671	0	0.446627	0.06534	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	1.83	-1.69	0.07747	-0.556000	0.06082	-1.611000	0.05064	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.3893:0.2507:0.36	2.769	0.05000	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07692	164.13	183	chr7	156736513	.	C	G	164.13	.	AC=2;AF=0.077;AN=26;BaseQRankSum=-5.160e+00;DP=2584;ExcessHet=0.1072;FS=180.941;InbreedingCoeff=-0.1667;MLEAC=3;MLEAF=0.115;MQ=60.00;MQRankSum=0.00;QD=0.43;ReadPosRankSum=3.13;SOR=8.222	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:140,0:140:0:.:.:0,0,2267	11	0	2	8
chr7	156736514	156736514	C	G	exonic	LMBR1	.	nonsynonymous SNV	LMBR1:NM_001350953:exon10:c.G859C:p.G287R	Acheiropody, Autosomal recessive;Hypoplastic or aplastic tibia with polydactyly, Autosomal dominant;Laurin-Sandrow syndrome, Autosomal dominant;Polydactyly, preaxial type II, Autosomal dominant;Syndactyly, type IV, Autosomal dominant;Triphalangeal thumb, type I, Autosomal dominant;Triphalangeal thumb-polysyndactyly syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.186	B	0.026	B	0.003	U	1.000	N	.	.	1.02	T	-1.053	T	0.048	T	0.041	-0.672	1.062	1.83	1.336	-0.338	7.135	0.076	0.00190122551669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533	0.06957	T	0.523	0.10354	T	.	.	.	.	.	.	0.003055	0.35512	U	0.000000	1	0.18612	N	.	.	.	1.02	0.40749	T	0.3	0.04091	N	.	.	-1.0527	0.13655	T	0.048	0.20513	T	9	0.08910519	0.15404	T	0.001901	0.03351	T	0.076	0.22200	.	.	0.176091768786	0.17195	.	.	.	.	.	.	.	0.00383	0.03242	T	-0.367071	0.03744	T	-0.765049	0.02935	T	0.105643652379513	0.12966	T	0.478452	0.14421	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.24934	B	.	.	-0.091437	0.03692	0.750	0.086422518250517763	0.00072	0.00911	0.03557	N	AEFBI	0.070950	0.14104	N	-0.8756185293714	0.11424	0.5512518	-0.979727185268035	0.10241	0.5145251	0.249579810517596	0.18665	0.559995	0.30671	0	0.446627	0.06534	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	1.83	1.83	0.24279	-0.561000	0.06048	-0.394000	0.09455	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:1.0:0.0:0.0	7.135	0.24702	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	86.98	183	chr7	156736514	.	C	G	86.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.657e+00;DP=996;ExcessHet=0.0000;FS=82.795;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.48;ReadPosRankSum=3.21;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485	20	0	1	0
chr7	158138399	158138399	C	T	exonic	PTPRN2	.	nonsynonymous SNV	PTPRN2:NM_001308267:exon6:c.G913A:p.V305M	.	.	428	1081	12	1	0	14	0.00643382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.029	B	0.01	B	0.016	N	1.000	N	0	N	4.01	T	-0.942	T	0.001	T	0.033	1.383	10.56	2.14	0.316	0.799	9.315	0.043	.	0.0023	0.0313498	0.0109	0.0077	0.0012	0.0909	0	0.0005	0.0078	0.0239	0.0102521	1585	154602	rs3752368	0.0044	0.0044	0.0039	0.0049	0.0788	0.0043	0.0043	0.0765	0.0755	0.0046	0.0009	0.0012	0.0788	0.0001	0.0049	0.0005	0.0078	0.0240	0.0060	0.0060	0.0055	0.0066	0.0881	0.0057	0.0056	0.0814	0.0788	0.0055	0	0.0024	0.0012	0.0881	0	0	0.0006	0.0080	0.0280	0.058	0.37750	T	0.254	0.33109	T	0.011	0.15914	B	0.01	0.14941	B	0.016495	0.01442	N	5.222610	1	0.08975	N	-0.205	0.04094	N	4.0	0.03239	T	-0.67	0.24026	N	0.041	0.01999	-0.9420	0.42298	T	0.001	0.00222	T	10	0.0018531382	0.00025	T	.	.	.	0.043	0.11576	.	.	.	.	0.19352542145355858	0.19270	0.21105830166	0.23610	0.35255536437	0.18298	T	0.037307	0.24427	T	-0.75878	0.00015	T	-0.789753	0.02171	T	0.00521713098286543	0.00056	T	0.607939	0.22935	T	0.032459017	0.03276	0.04098939	0.04556	0.032459017	0.03276	0.04098939	0.04556	-4.279	0.27881	T	.	.	0.106	0.19518	B	.;.;.;.;.	.;.;.;.;.	1.776088	0.22581	15.68	0.98901470143024783	0.48199	0.04713	0.10405	N	AEFDBI	0.059161	0.11153	N	-1.26468757244082	0.04109	0.1848191	-1.24532862616526	0.05200	0.2472159	0.609200251937581	0.21790	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.15	2.14	0.26518	1.086000	0.30464	0.085000	0.14440	-0.174000	0.10959	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.1426:0.7662:0.0:0.0912	9.315	0.37090	976	0.04745	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1102.98	34	chr7	158138399	.	C	T	1102.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.850e-01;DP=1146;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.03;ReadPosRankSum=-6.600e-02;SOR=0.693	GT:AD:DP:GQ:PL	0/0:94,0:94:99:0,120,1800	20	0	1	0
chr7	158192365	158192365	C	T	exonic	PTPRN2	.	nonsynonymous SNV	PTPRN2:NM_001308267:exon4:c.G397A:p.A133T	.	.	432	1085	5	0	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.003	B	0.001	B	.	.	1.000	N	0.695	N	4.01	T	-0.903	T	0.005	T	0.103	1.743	11.79	-1.21	-0.399	0.596	1.995	0.015	0.00837460799678	0.0002	0.00159744	0.0011	0.0001	0.0008	0	0	0.0005	0.0024	0.0055	0.0009314	144	154602	rs137877535	0.0006	0.0006	0.0005	0.0007	0.0134	0.0006	0.0006	0.0109	0.0100	0.0011	0.0008	0.0038	3.004e-05	0	0.0134	0.0003	0.0012	0.0042	0.0008	0.0008	0.0008	0.0009	0.0032	0.0007	0.0007	0.0025	0.0022	0.0002	0	0.0032	0.0040	0	0	0.0204	0.0005	0.0019	0.0031	0.153	0.24372	T	0.478	0.18449	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	3.99	0.03268	T	-0.62	0.18248	N	0.032	0.01347	-0.9027	0.47705	T	0.005	0.01578	T	9	0.006252885	0.00141	T	0.008375	0.22156	T	0.015	0.02232	.	.	0.193865811164	0.18958	0.30869415256813404	0.30782	0.20139288257	0.22538	0.301668405533	0.10650	T	0.021303	0.16611	T	-0.687625	0.00043	T	-0.760372	0.03099	T	0.00183340709190816	0.00019	T	0.553645	0.19140	T	0.030271849	0.02661	0.049551606	0.07596	0.030271849	0.02660	0.049551606	0.07596	-4.288	0.28387	T	.	.	0.089	0.12228	B	.;.;.;.;.	.;.;.;.;.	0.704547	0.10733	7.424	0.93835865544039976	0.23826	0.01178	0.04227	N	AEFDBI	0.035932	0.04707	N	-1.4847882601888	0.01957	0.085926	-1.5130027267807	0.02244	0.1028931	7.99934075342978E-4	0.07826	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.17	-1.21	0.09033	0.255000	0.18102	-0.045000	0.12619	-1.383000	0.01158	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1803:0.2879:0.3897:0.1421	1.995	0.03245	952	0.10565	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1560.98	98	chr7	158192365	.	C	T	1560.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.036e+00;DP=1384;ExcessHet=0.0000;FS=7.102;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=0.275;SOR=0.384	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1252	20	0	1	0
chr7	158656267	158656267	G	A	exonic	NCAPG2	.	nonsynonymous SNV	NCAPG2:NM_001281933:exon19:c.C2381T:p.T794M	.	.	428	1093	1	0	0	1	0.000457247	.	.	722423	NCAPG2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.12	T	0.334	B	0.078	B	0.581	N	1.000	N	0.895	L	0.96	T	-1.056	T	0.019	T	0.29	0.032	4.182	-1.35	-0.599	1.172	7.095	0.068	.	0.0053	0.00479233	0.0018	0.0190	0.0010	0	0	0.0003	0	0	0.0017335	268	154602	rs10248318	0.0007	0.0007	0.0007	0.0006	0.0201	0.0006	0.0006	0.0188	0.0183	0.0201	0.0015	0	2.519e-05	1.872e-05	0.0038	0.0001	0.0015	5.799e-05	0.0057	0.0057	0.0059	0.0054	0.0194	0.0053	0.0052	0.0183	0.0178	0.0194	0	0.0022	0	0	0	0	0.0002	0.0038	0.0002	0.167	0.23541	T	0.183	0.29639	T	0.208	0.29916	B	0.051	0.25434	B	0.580765	0.05534	N	1.173110	1	0.08975	N	0.635	0.15989	N	0.96	0.42888	T	-1.61	0.38734	N	0.044	0.01740	-1.0557	0.12855	T	0.019	0.07986	T	10	0.00413993	0.00082	T	.	.	.	0.095	0.27398	.	.	0.492909346147	0.48925	0.07528846254745464	0.07464	0.414482418027	0.42127	0.283472299576	0.07981	T	0.116428	0.43577	T	-0.537685	0.00346	T	-0.527538	0.19532	T	0.00407313909980977	0.00043	T	0.738826	0.35731	T	0.013682333	0.00066	0.031684697	0.01792	0.013682333	0.00066	0.031684697	0.01792	-5.391	0.41006	T	.	.	0.066	0.02733	B	.;.;.	.;.;.	1.096171	0.14803	11.34	0.86911766595511697	0.16858	0.23496	0.22095	N	ALL	0.082430	0.16690	N	-1.05018248368967	0.07584	0.3527971	-1.09791633940763	0.07741	0.3777509	0.999999999573013	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	6.07	-1.35	0.08638	1.225000	0.32154	0.620000	0.20121	-0.137000	0.12594	0.002000	0.15269	0.000000	0.08366	0.018000	0.11154	0.4513:0.1144:0.4342:0.0	7.095	0.24480	856	0.34373	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	995.98	33	chr7	158656267	.	G	A	995.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.54;DP=761;ExcessHet=0.0000;FS=0.967;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.10;ReadPosRankSum=-1.611e+00;SOR=0.501	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1175	20	0	1	0
chr7	158656399	158656399	T	C	exonic	NCAPG2	.	nonsynonymous SNV	NCAPG2:NM_001281933:exon19:c.A2249G:p.H750R	.	.	432	1081	8	1	0	10	0.00460405	.	.	215360	NCAPG2-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.61	T	0.003	B	0.01	B	0.067	N	0.684	N	1.04	L	1.09	T	-1.034	T	0.070	T	0.192	1.056	9.313	3.57	0.507	3.428	10.144	0.019	0.0120473657947	0.0004	0.000599042	0.0005	0	0.0006	0	0.0002	0.0006	0.0033	0.0001	0.0004657	72	154602	rs199564693	0.0004	0.0004	0.0004	0.0005	0.0127	0.0004	0.0004	0.0103	0.0095	0.0002	0.0007	0.0065	5.038e-05	3.745e-05	0.0127	0.0003	0.0013	8.115e-05	0.0006	0.0006	0.0006	0.0006	0.0020	0.0005	0.0005	0.0015	0.0013	0.0001	0	0.0020	0.0058	0	0	0.0102	0.0004	0.0028	0	0.244	0.21144	T	0.178	0.29639	T	0.0	0.07471	B	0.004	0.10090	B	0.066772	0.21787	N	0.561687	0.683712	0.30255	N	1.085	0.27262	L	1.09	0.39223	T	-1.04	0.27259	N	0.092	0.07535	-1.0342	0.19109	T	0.070	0.28412	T	10	0.0045380592	0.00094	T	0.012047	0.30270	T	0.034	0.08419	.	.	0.319921171382	0.31595	0.08520765604516878	0.08454	0.467273448873	0.46111	0.309543669224	0.11838	T	0.090764	0.38655	T	-0.436147	0.01363	T	-0.505691	0.21759	T	0.00785582124274075	0.00092	T	0.583442	0.21195	T	0.044714343	0.07196	0.053701323	0.09097	0.044714343	0.07196	0.053701323	0.09096	-1.425	0.01629	T	.	.	0.062	0.01534	B	.;.;.	.;.;.	1.770313	0.22515	15.65	0.80353623130609353	0.13163	0.92165	0.55089	D	ALL	0.382356	0.46427	N	-0.216606240125564	0.32452	1.830328	-0.241031360814047	0.30081	1.690703	0.999999999997003	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.91	3.57	0.40014	3.418000	0.52478	0.440000	0.18415	0.663000	0.56723	1.000000	0.71638	0.193000	0.23512	0.291000	0.24285	0.0:0.1335:0.0:0.8665	10.144	0.41926	856	0.34373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1609.98	129	chr7	158656399	.	T	C	1609.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.230e-01;DP=825;ExcessHet=0.0000;FS=2.281;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.48;ReadPosRankSum=-2.920e-01;SOR=0.929	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1175	20	0	1	0
chr7	158675541	158675541	T	C	exonic	NCAPG2	.	nonsynonymous SNV	NCAPG2:NM_001281933:exon12:c.A1262G:p.K421R	.	.	431	1090	1	0	0	1	0.000458505	.	.	2462597	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	0.406	B	0.125	B	0.000	D	1.000	D	1.245	L	1.46	T	-0.797	T	0.154	T	0.166	1.922	12.38	4.29	2.059	3.146	8.934	0.027	0.0166587054385	8.4e-05	.	4.146e-05	0	8.651e-05	0	0	3.003e-05	0	0.0001	3.23e-05	5	154602	rs368844202	3.353e-05	3.42e-05	2.179e-05	4.539e-05	0.0004	2.567e-05	2.312e-05	0.0003	0.0003	0	2.244e-05	0	0	0	0.0003	6.295e-06	3.312e-05	0.0004	2.626e-05	2.625e-05	2.57e-05	2.685e-05	0.0004	8.14e-06	5.14e-06	7.287e-05	3.028e-05	0	0	0	0	0	0	0.0034	1.47e-05	0	0.0004	0.308	0.14595	T	0.105	0.38305	T	0.284	0.34969	B	0.059	0.32635	B	0.000000	0.84330	D	0.092144	0.92975	0.36936	D	0.855	0.21307	L	1.46	0.32238	T	-0.99	0.26200	N	0.165	0.18376	-0.7968	0.55333	T	0.154	0.48464	T	10	0.124304056	0.23607	T	0.016659	0.38021	T	0.027	0.05988	.	.	0.569928037297	0.56658	0.15422082344010743	0.15343	0.315123132417	0.33798	0.387074798346	0.23256	T	0.145507	0.48266	T	-0.400521	0.02297	T	-0.516905	0.20609	T	0.106740564107895	0.13083	T	0.815218	0.46991	T	0.084015265	0.19426	0.09992024	0.23873	0.084015265	0.19426	0.09992024	0.23873	-7.574	0.58129	D	.	.	0.078	0.06803	B	.;.;.	.;.;.	3.413715	0.47364	22.4	0.9958473882522384	0.73218	0.94242	0.60547	D	AEFBI	0.439520	0.49846	N	0.154345811681035	0.49017	3.106971	0.213621824706724	0.50601	3.250579	0.99998914839875	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.45	4.29	0.50359	3.111000	0.50053	2.246000	0.31650	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.1456:0.0:0.8544	8.934	0.34846	856	0.34373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	881.98	34	chr7	158675541	.	T	C	881.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.370e-01;DP=746;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.46;ReadPosRankSum=-2.190e-01;SOR=0.642	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1114	20	0	1	0
chr7	158879986	158879986	C	T	exonic	DYNC2I1	.	nonsynonymous SNV	DYNC2I1:NM_001350915:exon5:c.C359T:p.P120L,	.	.	432	1079	9	2	0	13	0.00598802	.	.	692196	Short-rib_thoracic_dysplasia_8_with_or_without_polydactyly	MONDO:MONDO:0014214,MedGen:C3809691,OMIM:615503,Orphanet:93271	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0002	0	0	9.235e-05	0	0.0015	0.000207	32	154602	rs757328480	0.0001	0.0001	7.202e-05	0.0001	0.0012	9.64e-05	9.112e-05	0.0010	0.0009	0	0.0001	0.0008	0	0	0.0004	1.812e-05	0.0003	0.0012	4.602e-05	4.598e-05	2.571e-05	6.727e-05	0.0004	2.11e-05	1.527e-05	7.31e-05	3.036e-05	2.414e-05	0	0	0.0009	0	0	0	1.47e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	629.98	45	chr7	158879986	.	C	T	629.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=840;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.69;ReadPosRankSum=-1.765e+00;SOR=0.784	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr7	159030723	159030723	T	C	exonic	VIPR2	.	nonsynonymous SNV	VIPR2:NM_001308259:exon10:c.A1162G:p.R388G	.	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.839	P	0.231	B	0.000	D	1.000	N	2.1	M	-0.75	T	-0.747	T	0.246	T	0.302	2.119	13.04	-2.22	-0.748	0.343	7.064	0.218	0.106841587164	0.0003	0.000199681	0.0008	0	0.0003	0	0	0.0005	0	0.0024	0.0003169	49	154602	rs182364293	0.0002	0.0002	0.0001	0.0002	0.0025	0.0002	0.0002	0.0015	0.0011	0	0.0003	0.0006	0	0	0.0025	7.787e-05	0.0003	0.0014	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0003	0.0002	0	0	0.0006	0.0006	0	0	0	0.0002	0	0.0006	0.039	0.59928	D	0.102	0.54934	T	0.839	0.46454	P	0.231	0.38266	B	0.000085	0.51296	D	0.000000	0.999997	0.08975	N	2.08	0.57402	M	-0.75	0.73311	T	-4.13	0.75220	D	0.092	0.21056	-0.7473	0.58076	T	0.246	0.61542	T	10	0.010974944	0.00242	T	0.106842	0.78265	D	0.218	0.51265	.	.	0.505273739051	0.50166	0.4363411622857747	0.43551	0.242001101133	0.26716	0.541299760342	0.44629	T	0.510337	0.82676	D	-0.368163	0.03688	T	-0.336995	0.40685	T	0.0973044326960735	0.12057	T	0.721228	0.33447	T	0.24084613	0.46993	0.18011194	0.40789	0.24084613	0.46993	0.18011194	0.40788	-7.69	0.58938	D	.	.	0.072	0.08948	B	.;.;.	.;.;.	1.136243	0.15231	11.69	0.9633428671496419	0.29460	0.34795	0.25151	N	ALL	0.147795	0.27154	N	-0.579880488067481	0.19556	1.024456	-0.765814839052479	0.15334	0.805965	1.0	0.98316	0.685219	0.55550	0	0.573888	0.26702	0	0.674405	0.61402	0	0.554799	0.18163	0	.	.	5.06	-2.22	0.06560	0.361000	0.20003	-0.458000	0.09056	0.603000	0.45986	0.006000	0.17386	0.000000	0.08366	0.138000	0.19872	0.0:0.1615:0.3268:0.5118	7.064	0.24322	982	0.03397	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	869.98	36	chr7	159030723	.	T	C	869.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.070e-01;DP=761;ExcessHet=0.0000;FS=1.924;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=-4.540e-01;SOR=0.835	GT:AD:DP:GQ:PL	0/1:36,38:74:99:884,0,868	20	0	1	0
chr8	166352	166352	C	G	exonic	OR4F21	.	nonsynonymous SNV	OR4F21:NM_001005504:exon1:c.G673C:p.V225L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.325	B	0.246	B	0.001	D	1.000	N	1.565	L	8.27	T	-1.028	T	0.001	T	0.245	0.524	6.841	1.96	1.123	-1.108	4.530	0.067	0.000530597781798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.529	0.10138	T	0.325	0.33132	B	0.246	0.38861	B	0.000561	0.43413	D	0.000000	1	0.08975	N	-0.43	0.02865	N	8.27	0.00268	T	-2.78	0.58896	D	0.095	0.07535	-1.0283	0.21005	T	0.001	0.00222	T	10	0.09136692	0.15999	T	5.31E-4	0.00185	T	0.067	0.19503	0.456	0.52102	0.0666544352282	0.05500	0.10399243496484378	0.10329	.	.	0.318856149912	0.13248	T	0.026131	0.19403	T	-0.300854	0.08579	T	-0.669933	0.07613	T	0.323527455329895	0.25964	T	0.869313	0.57326	D	0.1931665	0.41016	0.17348346	0.39678	0.1931665	0.41016	0.17348346	0.39677	-7.171	0.55273	T	.	.	0.173	0.37988	B	.	.	1.478559	0.19034	14.06	0.96952852106243448	0.31743	0.00465	0.02234	N	AEFI	0.033389	0.03951	N	-0.570582871626365	0.19843	1.041685	-0.617697796477399	0.19039	1.019733	1.94108467594817E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.96	1.96	0.25203	-1.632000	0.02126	-0.248000	0.10531	-0.809000	0.03084	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.8006:0.0:0.1994	4.530	0.11407	994	0.00715	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	35.45	22	chr8	166352	.	C	G	35.45	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.967;DP=126;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0548;MLEAC=1;MLEAF=0.026;MQ=23.07;MQRankSum=0.00;QD=11.82;ReadPosRankSum=0.00;SOR=1.179	GT:AD:DP:GQ:PL	0/0:6,0:6:18:0,18,212	18	0	1	2
chr8	242998	242998	C	A	exonic	ZNF596	.	nonsynonymous SNV	ZNF596:NM_001042415:exon3:c.C124A:p.H42N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.982	D	0.762	P	.	.	1.000	N	-0.265	N	5.1	T	-0.970	T	0.004	T	0.263	-1.720	0.011	2.38	1.669	0.435	6.483	0.117	0.00164559654862	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs764153561	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.529	0.07048	T	0.399	0.92824	T	0.982	0.60036	D	0.762	0.56524	P	.	.	.	.	1	0.08975	N	-0.46	0.02758	N	5.1	0.01231	T	-1.65	0.43149	N	0.426	0.46928	-0.9696	0.37283	T	0.004	0.01226	T	9	0.12747201	0.24242	T	0.001646	0.02676	T	0.117	0.32689	0.7	0.83684	0.570441715299	0.56709	0.05701129772913163	0.05642	0.0037235386755	0.00321	0.529215693474	0.42923	T	8.36E-4	0.00412	T	-0.270993	0.11647	T	-0.627039	0.10640	T	0.197925182928762	0.20301	T	0.352565	0.34357	T	0.10948226	0.25883	0.07597565	0.16779	0.10948226	0.25883	0.07597565	0.16779	-4.639	0.32658	T	.	.	0.141	0.38658	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.880066	0.38109	20.7	0.44436659380085669	0.03416	0.00592	0.02653	N	AEFBI	0.023555	0.01330	N	-0.478161273774432	0.22798	1.219842	-0.553028814694183	0.20725	1.117951	0.00108988831301665	0.08206	0.615465	0.37627	0	0.588015	0.36545	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	2.38	2.38	0.28415	-0.470000	0.06717	0.525000	0.19198	0.544000	0.25403	0.000000	0.06391	0.041000	0.21590	0.985000	0.61073	0.2887:0.7113:0.0:0.0	6.483	0.21272	988	0.01987	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	534.98	34	chr8	242998	.	C	A	534.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.970e-01;DP=740;ExcessHet=0.0000;FS=2.439;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.09;ReadPosRankSum=0.370;SOR=0.399	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1406	20	0	1	0
chr8	491580	491580	T	G	exonic	TDRP	.	nonsynonymous SNV	TDRP:NM_001256113:exon4:c.A589C:p.K197Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.703	P	0.238	B	.	.	1.000	N	.	.	.	.	-1.047	T	0.065	T	0.09	2.874	15.58	1.38	0.455	0.342	6.364	0.031	0.0208139864316	.	0.000399361	0.0007	0	0	0	.	0.0008	0	0.0007	0.0002975	46	154602	rs546625541	0.0021	0.0020	0.0021	0.0022	0.0025	0.0021	0.0021	0.0024	0.0024	0.0004	0.0002	0.0003	0	0.0010	0.0002	0.0025	0.0013	0.0010	0.0016	0.0016	0.0018	0.0013	0.0031	0.0014	0.0013	0.0028	0.0027	0.0004	0	0.0002	0	0	9.413e-05	0	0.0031	0.0005	0.0008	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.09	0.08340	N	0.1	0.08227	-1.0470	0.15246	T	0.065	0.26878	T	7	0.0066894293	0.00152	T	0.020814	0.43476	T	0.031	0.07369	.	.	0.158396225186	0.15383	0.04042412803118026	0.03988	0.00580428059586	0.00509	0.410421580076	0.26515	T	.	.	.	-0.537605	0.00346	T	-0.549624	0.17362	T	0.0425309764877069	0.04152	T	0.265273	0.04325	T	.	.	.	.	.	.	.	.	-3.651	0.18597	T	.	.	0.100	0.17016	B	.;.	.;.	0.154286	0.05459	1.928	0.96548669056049163	0.30215	0.03769	0.09084	N	AEBI	0.056460	0.10439	N	-0.512301661025838	0.21682	1.152427	-0.63589164634133	0.18573	0.9927986	0.990776375348532	0.32265	0.736574	0.97449	0	0.588066	0.40923	0	0.732669	0.93749	0	0.620846	0.47308	0	.	.	5.45	1.38	0.21262	-0.384000	0.07447	1.178000	0.24674	0.665000	0.62972	0.000000	0.06391	0.877000	0.27660	0.272000	0.23818	0.149:0.0:0.3097:0.5413	6.364	0.20648	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1049.98	41	chr8	491580	.	T	G	1049.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=792;ExcessHet=0.0000;FS=3.992;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=-8.900e-02;SOR=1.126	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1120	20	0	1	0
chr8	692478	692478	C	T	exonic	ERICH1	.	nonsynonymous SNV	ERICH1:NM_001303100:exon3:c.G304A:p.D102N	.	.	426	1094	2	0	0	2	0.000913242	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.984	D	0.027	N	1.000	D	1.905	M	1.09	T	-0.756	T	0.218	T	0.129	2.891	15.63	4.56	2.450	2.608	13.572	0.095	0.0300898857147	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455014133	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.027	0.55341	D	1.0	0.90584	D	0.984	0.76113	D	0.026638	0.25887	N	0.398605	0.992805	0.81001	D	1.905	0.50856	L	1.09	0.39223	T	-2.95	0.61580	D	0.281	0.31814	-0.7564	0.57599	T	0.218	0.58098	T	9	0.24505234	0.41747	T	0.03009	0.52471	D	0.095	0.27398	0.231	0.15855	0.59817006922	0.59497	0.03737471147272868	0.03683	0.00959419702733	0.00872	0.392331779003	0.23997	T	0.100248	0.40587	T	-0.174507	0.24556	T	-0.488444	0.23553	T	0.898914396762848	0.55111	D	0.60384	0.22664	T	0.21033898	0.43327	0.115602784	0.27905	0.21033898	0.43327	0.115602784	0.27904	-3.004	0.10224	T	.	.	0.175	0.38245	B	.	.	5.628039	0.92652	32	0.99854299427754778	0.93368	0.77964	0.38398	D	AEFBCI	0.314694	0.41948	N	0.442042828897695	0.63752	4.61519	0.360361376803566	0.59136	4.088816	0.999993768851847	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.683762	0.67416	0	.	.	4.56	4.56	0.55644	2.680000	0.46583	3.932000	0.40542	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.053000	0.15439	0.0:1.0:0.0:0.0	13.572	0.61320	979	0.04160	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1240.98	34	chr8	692478	.	C	T	1240.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.440;DP=839;ExcessHet=0.0000;FS=0.751;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=0.866;SOR=0.550	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1193	20	0	1	0
chr8	737814	737814	G	T	exonic	DLGAP2	.	nonsynonymous SNV	DLGAP2:NM_001346810:exon1:c.G7T:p.A3S,	.	.	943	554	20	5	0	30	0.026362	.	.	3210342	DLGAP2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00998403	.	.	.	.	.	.	.	.	0.0069156	180	26028	rs112628444	0.0106	0.0047	0.0103	0.0110	0.0303	0.0103	0.0101	0.0252	0.0233	0.0032	0.0074	0.0054	4.635e-05	0.0069	0.0178	0.0130	0.0104	0.0303	0.0089	0.0089	0.0091	0.0087	0.0321	0.0085	0.0083	0.0279	0.0264	0.0021	0	0.0103	0.0064	0.0010	0.0050	0.0171	0.0124	0.0105	0.0321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004456252	0.00091	T	.	.	.	.	.	.	.	.	.	0.020872219865692203	0.02040	.	.	.	.	.	0.006796	0.06227	T	.	.	.	.	.	.	.	.	.	0.418458	0.11053	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.59194	A	.	.	3.322809	0.45711	22.2	0.97031512956802823	0.32072	0.16736	0.19525	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999017994621512	0.38212	0.095506	0.02484	0	0.059962	0.00310	0	0.068936	0.01964	0	0.109499	0.03221	0	0.168939	0.28779	3.55	1.69	0.23290	1.269000	0.32677	3.008000	0.35949	0.463000	0.21641	0.052000	0.21487	1.000000	0.68203	0.854000	0.40426	0.2523:0.0:0.7477:0.0	5.842	0.17896	981	0.03995	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1529.11	35	chr8	737814	.	G	T	1529.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.419;DP=806;ExcessHet=0.1072;FS=1.420;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.58;ReadPosRankSum=-2.890e-01;SOR=0.872	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,970	19	0	2	0
chr8	1548758	1548758	C	T	exonic	DLGAP2	.	nonsynonymous SNV	DLGAP2:NM_001346810:exon5:c.C305T:p.A102V,	.	.	417	1096	7	2	0	11	0.00499319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.02	B	0.007	B	0.214	N	0.997	N	0.895	L	2.74	T	-1.003	T	0.077	T	0.125	2.419	14.05	4.95	2.280	3.655	18.180	0.055	.	0.0051	0.00638978	0.0026	0.0207	0.0012	0	0	0.0005	0.0114	0.0061	0.0019857	307	154602	rs200906543	0.0011	0.0011	0.0010	0.0013	0.0175	0.0011	0.0011	0.0163	0.0159	0.0175	0.0013	3.856e-05	0	0	0.0066	0.0003	0.0018	0.0063	0.0050	0.0050	0.0049	0.0051	0.0163	0.0047	0.0046	0.0153	0.0148	0.0163	0	0.0015	0	0	0	0.0103	0.0005	0.0038	0.0050	0.269	0.16091	T	0.575	0.08654	T	0.02	0.18235	B	0.003	0.08700	B	0.214462	0.16286	N	0.649458	0.997435	0.22660	N	0.855	0.21307	L	1.69	0.27032	T	-1.64	0.39314	N	0.386	0.42737	-1.0028	0.29109	T	0.077	0.30767	T	10	0.0039413273	0.00076	T	.	.	.	0.106	0.30130	.	.	0.176862962021	0.17281	0.14055523378768475	0.13978	0.0996193021049	0.11245	0.555040061474	0.46567	T	0.013082	0.25202	T	-0.600923	0.00144	T	-0.622335	0.11003	T	0.046898737339372	0.04948	T	0.830517	0.49623	T	0.086523734	0.20114	0.15643938	0.36626	0.086523734	0.20114	0.15643938	0.36626	-3.346	0.14338	T	.	.	0.075	0.08899	B	.;.;.	.;.;.	3.288786	0.45099	22.1	0.99270142305418196	0.57525	0.90990	0.52646	D	AEFDBHCI	0.493267	0.52955	N	-0.00652346610670941	0.41560	2.488034	0.00797979600844272	0.40083	2.386656	0.999999999985778	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.440796	0.06475	0	0.613276	0.41899	0	.	.	4.95	4.95	0.64894	3.754000	0.54903	4.732000	0.44559	0.597000	0.34315	0.987000	0.36337	0.497000	0.25183	0.479000	0.28543	0.0:1.0:0.0:0.0	18.180	0.89705	934	0.15400	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	748.98	40	chr8	1548758	.	C	T	748.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.955;DP=871;ExcessHet=0.0000;FS=2.073;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=-1.029e+00;SOR=0.997	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr8	1548827	1548827	C	G	exonic	DLGAP2	.	nonsynonymous SNV	DLGAP2:NM_001346810:exon5:c.C374G:p.A125G,	.	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.73	P	0.147	B	0.024	N	1.000	N	0.435	N	2.76	T	-1.033	T	0.079	T	0.099	1.865	12.20	4.01	1.056	3.723	13.054	0.051	0.0094776966078	.	.	0.0001	0	0	0	0.0016	0.0001	0	0	5.17e-05	8	154602	rs753583566	3.642e-05	4.446e-05	3.749e-05	3.532e-05	0.0005	2.828e-05	2.561e-05	0.0001	7.888e-05	0	4.658e-05	0	0	0.0006	0.0005	1.91e-05	3.38e-05	0	6.572e-05	6.567e-05	6.424e-05	6.726e-05	1.47e-05	3.517e-05	2.616e-05	.	.	0	0	0	0	0	0.0008	0	1.47e-05	0	0	.	.	.	0.317	0.19304	T	0.611	0.39680	P	0.07	0.27859	B	0.024236	0.26299	N	0.465951	1	0.08975	N	0.675	0.16386	N	.	.	.	.	.	.	0.314	0.35408	-1.0329	0.19522	T	0.079	0.31496	T	10	0.027062178	0.00859	T	0.009478	0.24832	T	0.077	0.22490	0.112	0.02175	0.165150595986	0.16160	0.1725875137534764	0.17178	0.117517440466	0.13235	0.514366865158	0.40834	T	0.009727	0.23699	T	-0.445118	0.01206	T	-0.696246	0.06033	T	0.0678141469227483	0.08341	T	0.787921	0.44184	T	0.036723398	0.04572	0.09386044	0.22191	0.036723398	0.04572	0.09386044	0.22191	-5.042	0.37293	T	.	.	0.083	0.10304	B	.;.;.	.;.;.	2.735396	0.35818	20.0	0.98343006976186587	0.40457	0.63168	0.32005	D	AEFDBHCI	0.326763	0.42793	N	-0.188486733411212	0.33612	1.908963	-0.178920615688711	0.32313	1.837128	0.999996279085486	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.505578	0.09266	0	0.613276	0.41899	0	.	.	4.89	4.01	0.45821	3.792000	0.55181	1.054000	0.23662	0.597000	0.34315	0.772000	0.29380	0.000000	0.08366	0.132000	0.19645	0.0:0.9215:0.0:0.0785	13.054	0.58379	934	0.15400	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	713.98	40	chr8	1548827	.	C	G	713.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.262;DP=862;ExcessHet=0.0000;FS=6.365;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.20;ReadPosRankSum=-7.920e-01;SOR=1.080	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr8	1633019	1633019	A	T	exonic	DLGAP2	.	nonsynonymous SNV	DLGAP2:NM_001346810:exon8:c.A1783T:p.I595F,	.	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.21	B	0.071	B	0.079	N	0.988	N	1.245	L	2.35	T	-1.030	T	0.013	T	0.137	-0.492	1.739	-0.273	-0.211	1.971	1.375	0.051	.	0.0027	0.00439297	0.0009	0.0111	0	0	0	2.997e-05	0.0011	0	0.0009379	145	154602	rs139590326	0.0003	0.0003	0.0004	0.0003	0.0121	0.0003	0.0003	0.0111	0.0107	0.0121	0.0003	0	0	0	0.0002	3.598e-06	0.0008	4.637e-05	0.0032	0.0032	0.0036	0.0028	0.0114	0.0030	0.0029	0.0105	0.0102	0.0114	0	0.0009	0	0	0	0.0034	0	0.0019	0	.	.	.	0.08	0.41913	T	0.043	0.21573	B	0.032	0.22131	B	0.079003	0.21009	N	0.567453	0.987502	0.24510	N	2.125	0.59049	M	.	.	.	.	.	.	0.36	0.40164	-1.0300	0.20454	T	0.013	0.05033	T	10	0.004541427	0.00094	T	.	.	.	0.051	0.14325	.	.	0.179529687257	0.17594	0.14574791906586776	0.14497	0.173584863515	0.19547	0.3547488451	0.18619	T	0.030482	0.34621	T	-0.604341	0.00137	T	-0.631476	0.10304	T	0.0237264279689032	0.01110	T	0.952805	0.82030	D	0.025620116	0.01520	0.045484066	0.06130	0.025620116	0.01520	0.045484066	0.06129	-3.069	0.10943	T	.	.	0.077	0.08224	B	.;.;.	.;.;.	1.079143	0.14619	11.18	0.21258826704973677	0.00802	0.75885	0.37179	D	AEFDBI	0.173420	0.30050	N	-0.793632569268343	0.13475	0.6640877	-0.793961441833235	0.14643	0.7661566	1.30027810396082E-4	0.05386	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.06	-0.273	0.12276	2.032000	0.40747	-1.165000	0.06141	-0.042000	0.17409	1.000000	0.71638	0.000000	0.08366	0.375000	0.26223	0.5107:0.1371:0.221:0.1312	1.375	0.02086	952	0.10565	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2045.98	34	chr8	1633019	.	A	T	2045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=891;ExcessHet=0.0000;FS=1.821;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.33;ReadPosRankSum=-1.442e+00;SOR=0.865	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1284	20	0	1	0
chr8	1903442	1903442	C	G	exonic	ARHGEF10	.	stopgain	ARHGEF10:NM_001308152:exon15:c.C1698G:p.Y566X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	3.951	20.2	3.22	2.344	0.472	7.865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1332591469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.435	0.47857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574913	0.96804	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Recessive;.;.	.;.;.;High;.;.	8.763222	0.97989	38	0.99094794411084719	0.52321	0.87491	0.47048	D	AEFBI	0.263642	0.38114	N	0.604028773773163	0.73430	5.964677	0.435560390917111	0.63795	4.620511	0.999947850484156	0.47345	0.722319	0.85440	0	0.588015	0.36545	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.06	3.22	0.36041	0.786000	0.26505	0.918000	0.22682	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.681000	0.33571	0.0:0.6846:0.0:0.3154	7.865	0.28696	952	0.10565	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2232.98	36	chr8	1903442	.	C	G	2232.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.78;DP=868;ExcessHet=0.0000;FS=5.806;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.62;ReadPosRankSum=-1.290e+00;SOR=1.138	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1348	20	0	1	0
chr8	1928596	1928596	C	T	exonic	ARHGEF10	.	nonsynonymous SNV	ARHGEF10:NM_001308152:exon23:c.C2753T:p.P918L	.	.	2	1519	1	0	0	1	0.000329056	.	.	1608476	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.22	T	0.002	B	0.005	B	0.504	N	1.000	N	0.895	L	0.44	T	-1.016	T	0.101	T	0.142	1.214	9.927	1.12	0.646	-0.119	2.444	0.104	0.0268117044007	.	0.000399361	0.0003	0	0	0	0	0	0	0.0024	0.0002846	44	154602	rs201570359	0.0002	0.0002	9.937e-05	0.0002	0.0022	0.0002	0.0001	0.0019	0.0018	8.961e-05	0	0	2.519e-05	0	0.0007	3.777e-05	0.0003	0.0022	9.848e-05	9.843e-05	8.995e-05	0.0001	0.0023	6.002e-05	4.876e-05	0.0013	0.0010	0	0	0	0	0	0	0	5.881e-05	0	0.0023	0.335	0.15717	T	0.264	0.25061	T	0.001	0.09854	B	0.005	0.11217	B	0.503610	0.05107	N	1.272520	1	0.08975	N	0.115	0.08564	N	0.35	0.58029	T	-1.54	0.38540	N	0.136	0.13341	-1.0158	0.25078	T	0.101	0.37366	T	10	0.0065864027	0.00149	T	0.026812	0.49685	D	0.104	0.29647	.	.	0.414930877219	0.41105	0.1391604207910341	0.13839	0.0336607308792	0.03534	0.253993153572	0.04201	T	0.034927	0.23517	T	-0.533141	0.00368	T	-0.544764	0.17831	T	0.0144958291940428	0.00295	T	.	.	.	0.021327091	0.00730	0.023897149	0.00403	0.022993272	0.01004	0.023864247	0.00400	-4.961	0.37078	T	.	.	0.070	0.04558	B	.;.;.;.;.	.;.;.;.;.	0.952511	0.13286	9.789	0.76838045105577679	0.11630	0.05239	0.11072	N	AEFDGBI	0.054315	0.09866	N	-0.892198221850078	0.11026	0.5299775	-0.906590295836385	0.11939	0.6112622	0.989483526423624	0.31841	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.42	1.12	0.19700	-0.114000	0.10729	-1.068000	0.06430	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2433:0.3316:0.3171:0.108	2.444	0.04226	964	0.07719	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1849.98	33	chr8	1928596	.	C	T	1849.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.715;DP=860;ExcessHet=0.0000;FS=0.634;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.41;ReadPosRankSum=-2.420e-01;SOR=0.801	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1215	20	0	1	0
chr8	2001252	2001252	-	GAGAGC	exonic	KBTBD11	.	nonframeshift insertion	KBTBD11:NM_014867:exon2:c.60_61insGAGAGC:p.E25_G26insSE,	.	.	254	1263	5	0	0	5	0.0019755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0.0049	0	0	0	0	0	0	0.0078	0.0002305	6	26028	rs560567428	0.0004	0.0004	0.0003	0.0005	0.0048	0.0004	0.0003	0.0044	0.0042	7.073e-05	0.0003	0	0.0002	0	0.0011	0.0001	0.0005	0.0048	0.0002	0.0003	0.0002	0.0003	0.0039	0.0002	0.0002	0.0026	0.0021	0	0	0.0001	0	0.0002	0	0.0034	0.0002	0	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	898.94	33	chr8	2001252	.	G	GGAGAGC	898.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.750e-01;DP=731;ExcessHet=0.0000;FS=1.051;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.98;ReadPosRankSum=0.612;SOR=0.859	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,962	20	0	1	0
chr8	2001280	2001280	C	G	exonic	KBTBD11	.	nonsynonymous SNV	KBTBD11:NM_014867:exon2:c.C88G:p.P30A,	.	.	.	.	.	.	.	.	.	.	.	2250129	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.551	N	1.000	N	0.695	N	-1.32	T	-0.886	T	0.242	T	0.073	0.628	7.375	1.46	0.443	0.032	3.157	0.135	0.0392008212231	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1010143099	1.023e-05	9.577e-06	1.3e-05	7.387e-06	0.0003	5.93e-06	4.64e-06	0.0002	0.0001	0.0003	0	0	0	0	0	9.31e-07	5.262e-05	0	5.26e-05	5.251e-05	6.431e-05	4.035e-05	0.0002	2.559e-05	1.831e-05	4.73e-05	3.047e-05	0.0001	0	0.0001	0	0	0	0	0	0	0.0002	0.768	0.03402	T	0.397	0.15157	T	0.001	0.07471	B	0.001	0.04355	B	0.550979	0.05370	N	1.374960	1	0.08975	N	0.205	0.09354	N	-1.32	0.79761	T	-0.06	0.07882	N	0.073	0.04668	-0.8861	0.49265	T	0.242	0.60988	T	10	0.034498334	0.01660	T	0.039201	0.58670	D	0.135	0.36572	0.139	0.04277	0.667304291113	0.66450	0.08711662438454149	0.08644	1.00697876116	0.74614	0.617609977722	0.55391	T	0.007984	0.07346	T	-0.22053	0.17920	T	-0.554552	0.16892	T	0.035640936344862	0.02918	T	.	.	.	0.02273877	0.00958	0.026200134	0.00697	0.02273877	0.00958	0.026200134	0.00697	-3.731	0.19776	T	.	.	0.052	0.00207	B	.	.	1.088788	0.14723	11.27	0.80592925759776934	0.13276	0.11024	0.16356	N	AEFDBHCI	0.050678	0.08881	N	-1.15849906577225	0.05641	0.2577096	-1.10129649007765	0.07676	0.3743022	0.999999998045208	0.74766	0.685219	0.55550	0	0.573888	0.26702	0	0.674405	0.61402	0	0.554799	0.18163	0	.	.	4.37	1.46	0.21769	-0.411000	0.07205	0.094000	0.14556	-0.859000	0.02647	0.000000	0.06391	0.000000	0.08366	0.886000	0.42526	0.1402:0.5538:0.1368:0.1692	3.157	0.06119	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	557.98	33	chr8	2001280	.	C	G	557.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.990e-01;DP=736;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=0.125;SOR=0.610	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,962	20	0	1	0
chr8	2001555	2001563	GGAGCCCGG	-	exonic	KBTBD11	.	nonframeshift deletion	KBTBD11:NM_014867:exon2:c.363_371del:p.G124_P126del,	.	.	425	1085	12	0	0	12	0.00549954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	0	0.0179	0	.	0.0110	0	0.0016	0.0002305	6	26028	rs757999930	0.0027	0.0025	0.0027	0.0027	0.0098	0.0026	0.0026	0.0073	0.0064	0.0023	0.0020	0.0103	7.232e-05	0.0009	0.0098	0.0028	0.0030	0.0013	0.0031	0.0031	0.0034	0.0027	0.0040	0.0029	0.0028	0.0036	0.0034	0.0022	0.0044	0.0031	0.0104	0	0.0002	0.0070	0.0040	0.0033	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	374.94	16	chr8	2001554	.	AGGAGCCCGG	A	374.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.150e-01;DP=452;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.06;ReadPosRankSum=-2.148e+00;SOR=0.495	GT:AD:DP:GQ:PL	0/0:16,0:16:48:0,48,451	20	0	1	0
chr8	2001916	2001916	G	A	exonic	KBTBD11	.	nonsynonymous SNV	KBTBD11:NM_014867:exon2:c.G724A:p.A242T,	.	.	432	1088	2	0	0	2	0.000918274	.	.	2392186	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.848	P	0.259	B	0.922	U	0.994	N	0.69	N	-1.05	T	-0.800	T	0.227	T	0.173	1.766	11.86	2.69	0.695	1.252	2.565	0.191	0.854862185112	.	.	0.0010	0	0	0	0	0	0	0.0027	0.0002005	31	154602	rs750947866	0.0001	0.0001	5.318e-05	0.0002	0.0019	0.0001	9.685e-05	0.0017	0.0016	0	0	0	0	3.101e-05	0	9.683e-07	7.717e-05	0.0019	6.062e-05	5.925e-05	2.628e-05	9.674e-05	0.0019	3.147e-05	2.36e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	0.012	0.54683	D	0.245	0.24054	T	0.848	0.46844	P	0.259	0.39405	B	0.921638	0.08483	U	0.956808	0.99396	0.23615	N	1.245	0.31408	L	-1.05	0.76690	T	-0.12	0.08809	N	0.049	0.02088	-0.8004	0.55121	T	0.227	0.59246	T	10	0.02770552	0.00912	T	0.854862	0.98883	D	0.191	0.46948	0.397	0.42426	0.84075666641	0.83923	0.41448690241043507	0.41364	1.01061259862	0.74754	0.830191075802	0.86591	D	0.009637	0.08763	T	-0.381516	0.03048	T	-0.326656	0.41839	T	0.129648529470684	0.15350	T	.	.	.	0.0997644	0.23548	0.19300066	0.42845	0.0997644	0.23547	0.19300066	0.42844	-4.468	0.30468	T	.	.	0.086	0.10931	B	.	.	2.359734	0.30268	18.38	0.99200617282342018	0.55261	0.39461	0.26218	N	AEFDBHCIJ	0.049713	0.08616	N	-0.207912673972164	0.32810	1.85445	-0.228997443208842	0.30503	1.717947	0.999999999996322	0.74766	0.443343	0.08805	1	0.547309	0.14657	0	0.666236	0.60216	0	0.603991	0.37454	0	.	.	3.59	2.69	0.30923	1.042000	0.29914	2.824000	0.34981	0.540000	0.25189	1.000000	0.71638	1.000000	0.68203	0.183000	0.21389	0.1273:0.4158:0.3217:0.1352	2.565	0.04491	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1163.98	36	chr8	2001916	.	G	A	1163.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.650e-01;DP=881;ExcessHet=0.0000;FS=0.642;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.69;ReadPosRankSum=1.86;SOR=0.633	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1208	20	0	1	0
chr8	2079577	2079577	G	A	exonic	MYOM2	.	nonsynonymous SNV	MYOM2:NM_003970:exon13:c.G1480A:p.E494K,	.	.	421	1100	1	0	0	1	0.000454339	.	.	2346197	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.9	T	0.0	B	0.001	B	0.110	N	1.000	D	1.1	L	0.74	T	-1.072	T	0.083	T	0.204	-0.094	3.541	3.43	1.193	3.605	11.083	0.111	0.0103279850911	0.0002	0.000199681	0.0001	0.0012	0.0002	0	0	1.498e-05	0	0	0.0001035	16	154602	rs138854390	5.678e-05	5.746e-05	6.262e-05	5.088e-05	0.0016	4.676e-05	4.301e-05	0.0013	0.0012	0.0016	0.0001	0	0	0	0.0005	2.698e-06	0.0003	1.159e-05	0.0004	0.0004	0.0003	0.0005	0.0013	0.0003	0.0003	0.0010	0.0009	0.0013	0	0.0002	0	0	0	0	1.47e-05	0	0	0.898	0.02436	T	0.919	0.02882	T	.	.	.	.	.	.	0.110140	0.19455	N	0.527351	1	0.81001	D	.	.	.	0.74	0.50459	T	-0.05	0.07736	N	0.227	0.25499	-1.0718	0.09022	T	0.083	0.32499	T	10	0.026997864	0.00854	T	0.010328	0.26741	T	0.111	0.31313	.	.	0.599859248137	0.59666	0.27939611149503224	0.27852	0.00840729258209	0.00763	0.344211697578	0.17066	T	.	.	.	-0.485207	0.00690	T	-0.526091	0.19678	T	0.0136030649047928	0.00252	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.34071	B	.	.	2.043034	0.25971	16.95	0.73848754645259795	0.10477	0.84493	0.43575	D	AEFDBHCIJ	0.275645	0.39056	N	-0.473732770974848	0.22944	1.228653	-0.340488080046915	0.26804	1.482991	0.999999396458713	0.74766	0.59774	0.34471	0	0.615948	0.52940	0	0.596394	0.31383	0	0.63947	0.58350	0	.	.	5.26	3.43	0.38372	3.918000	0.56144	6.462000	0.55696	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.348000	0.25613	0.0707:0.1278:0.8015:0.0	11.083	0.47291	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1713.98	42	chr8	2079577	.	G	A	1713.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=928;ExcessHet=0.0000;FS=0.661;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.50;ReadPosRankSum=2.62;SOR=0.776	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr8	2085363	2085363	G	C	exonic	MYOM2	.	nonsynonymous SNV	MYOM2:NM_003970:exon14:c.G1617C:p.K539N,	.	.	436	1067	18	1	0	20	0.00928505	.	.	3216596	MYOM2-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.171	B	0.274	B	0.006	N	1.000	D	0.11	N	0.63	T	-1.010	T	0.086	T	0.122	1.605	11.32	3.95	1.429	1.340	9.066	0.080	0.0241659818376	0.0022	0.00179712	0.0028	0.0002	0.0020	0	0.0019	0.0036	0.0034	0.0035	0.0027037	418	154602	rs137923713	0.0029	0.0029	0.0029	0.0029	0.0132	0.0029	0.0028	0.0108	0.0099	0.0007	0.0024	3.826e-05	0	0.0030	0.0132	0.0031	0.0033	0.0037	0.0025	0.0025	0.0024	0.0025	0.0037	0.0023	0.0022	0.0031	0.0030	0.0006	0.0088	0.0027	0.0003	0.0004	0.0029	0.0136	0.0035	0.0043	0.0037	0.032	0.44694	D	0.112	0.37037	T	.	.	.	.	.	.	0.005828	0.32475	N	0.294315	0.968646	0.81001	D	.	.	.	0.63	0.53088	T	-1.33	0.33197	N	0.584	0.60495	-1.0105	0.26760	T	0.086	0.33298	T	10	0.012243539	0.00264	T	0.024166	0.47155	T	0.080	0.23350	0.474	0.55020	0.712770418609	0.71025	0.5107287513007086	0.50994	0.0278151165772	0.02851	0.432543307543	0.29556	T	.	.	.	-0.535084	0.00358	T	-0.54286	0.18016	T	0.0275743834854516	0.01626	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.515	0.65252	A	.	.	2.325149	0.29777	18.23	0.99417749304955194	0.63597	0.89452	0.49926	D	AEFDBI	0.426587	0.49088	N	-0.279700014692529	0.29933	1.66441	-0.15768430371848	0.33113	1.890835	0.969717760086207	0.29150	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.75	3.95	0.44952	1.285000	0.32866	3.765000	0.39732	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.044000	0.14658	0.2764:0.0:0.7236:0.0	9.066	0.35628	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1869.98	173	chr8	2085363	.	G	C	1869.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=968;ExcessHet=0.0000;FS=1.879;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=-3.630e-01;SOR=0.824	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,105,1575	20	0	1	0
chr8	2129228	2129228	C	T	exonic	MYOM2	.	nonsynonymous SNV	MYOM2:NM_003970:exon32:c.C3796T:p.H1266Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.526	P	0.234	B	0.000	D	0.994	D	1.545	L	1.3	T	-1.015	T	0.104	T	0.703	1.785	11.93	5.6	2.620	5.346	18.387	0.194	0.0101265944791	.	.	8.246e-06	9.623e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs530793018	2.751e-06	2.736e-06	2.735e-06	2.767e-06	8.99e-05	6.4e-07	4.3e-07	2.382e-05	1.26e-05	8.99e-05	0	0	0	0	0	9.046e-07	0	0	5.253e-05	5.25e-05	5.139e-05	5.371e-05	0.0002	2.555e-05	1.829e-05	9.545e-05	6.948e-05	0.0002	0	0	0	0	0	0	0	0	0	0.081	0.33418	T	0.173	0.30143	T	.	.	.	.	.	.	0.000000	0.84330	D	0.047469	0.993853	0.42076	D	.	.	.	1.3	0.35590	T	-3.75	0.72932	D	0.686	0.69213	-1.0154	0.25207	T	0.104	0.38267	T	10	0.43137452	0.57513	T	0.010127	0.26302	T	0.194	0.47447	.	.	0.380901646489	0.37697	0.642020210204926	0.64137	0.0109615481323	0.01019	0.596819758415	0.52456	T	.	.	.	-0.170268	0.25194	T	-0.20292	0.54369	T	0.332330852746964	0.26318	T	0.825517	0.48813	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.58727	A	.;.	.;.	3.220099	0.43869	21.8	0.98271234322959278	0.39759	0.90189	0.51171	D	AEFBI	0.731303	0.67842	D	0.173826291078452	0.49945	3.189441	0.241007371778856	0.52140	3.390829	0.999999999821752	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.6	5.6	0.84997	5.776000	0.68576	7.374000	0.58414	0.529000	0.24592	1.000000	0.71638	1.000000	0.68203	0.540000	0.29938	0.0:1.0:0.0:0.0	18.387	0.90413	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	547.98	38	chr8	2129228	.	C	T	547.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.455e+00;DP=802;ExcessHet=0.0000;FS=1.038;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.96;ReadPosRankSum=1.10;SOR=0.810	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1227	20	0	1	0
chr8	2942602	2942602	G	C	exonic	CSMD1	.	nonsynonymous SNV	CSMD1:NM_033225:exon69:c.C10405G:p.P3469A,	.	.	430	1091	1	0	0	1	0.000458085	.	.	3211719	CSMD1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.8	T	0.029	B	0.017	B	0.000	D	1.000	D	0.69	N	2.02	T	-1.046	T	0.120	T	0.234	-1.591	0.014	3.85	0.713	2.847	9.998	0.030	.	.	0.00638978	0.0061	0	0.0010	0.0004	0	4.676e-05	0	0.0278	0.0025355	392	154602	rs375524577	0.0014	0.0014	0.0008	0.0020	0.0222	0.0013	0.0013	0.0213	0.0209	6.238e-05	0.0001	0	0	0	0.0012	7.358e-06	0.0018	0.0222	0.0008	0.0008	0.0005	0.0011	0.0243	0.0007	0.0006	0.0207	0.0193	7.218e-05	0	0.0001	0	0	0	0	1.47e-05	0	0.0243	0.091	0.31834	T	0.608	0.07868	T	0.002	0.09854	B	0.002	0.06944	B	0.000190	0.48115	D	0.139850	0.959878	0.38150	D	.	.	.	1.86	0.24285	T	-0.98	0.28084	N	0.156	0.21319	-1.0465	0.15389	T	0.120	0.41929	T	10	0.0034969747	0.00062	T	.	.	.	0.037	0.09474	0.245	0.17984	0.407082143382	0.40323	0.1865742852426868	0.18575	.	.	0.325103998184	0.14194	T	0.00998	0.09046	T	-0.532906	0.00369	T	-0.520674	0.20226	T	0.0188305011466002	0.00594	T	0.680232	0.32156	T	0.062274452	0.12988	0.06951153	0.14654	0.05215523	0.09685	0.065387346	0.13245	-5.089	0.37791	T	.	.	0.066	0.02313	B	.;.;.;.;.;.	.;.;.;.;.;.	0.593794	0.09625	6.396	0.094857302421033754	0.00098	0.96150	0.67762	D	AEFI	0.555381	0.56584	D	0.188926006236915	0.50666	3.254606	0.128581364054178	0.46016	2.854747	0.00166976793935536	0.08760	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.67	3.85	0.43556	3.166000	0.50485	2.647000	0.33790	0.660000	0.55035	1.000000	0.71638	0.999000	0.35428	0.016000	0.10718	0.0685:0.263:0.6685:0.0	9.998	0.41085	915	0.20917	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	558.98	40	chr8	2942602	.	G	C	558.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.458;DP=771;ExcessHet=0.0000;FS=4.436;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=-1.066e+00;SOR=0.230	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1106	20	0	1	0
chr8	2974553	2974553	C	T	exonic	CSMD1	.	nonsynonymous SNV	CSMD1:NM_033225:exon56:c.G8638A:p.V2880I,	.	.	424	1081	16	1	0	18	0.00825688	.	.	723047	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.49	T	0.002	B	0.013	B	0.617	N	1.000	N	1.295	L	-0.27	T	-0.981	T	0.162	T	0.106	2.229	13.41	-8.52	-1.151	-0.587	11.110	0.041	.	0.0004	0.00299521	0.0021	0.0002	0.0010	0	0	0.0007	0.0036	0.0118	0.0017658	273	154602	rs199997360	0.0012	0.0012	0.0009	0.0015	0.0104	0.0011	0.0011	0.0098	0.0096	0.0001	0.0007	3.829e-05	5.045e-05	0	0.0042	0.0006	0.0012	0.0104	0.0008	0.0008	0.0006	0.0010	0.0108	0.0007	0.0006	0.0084	0.0076	0.0001	0	0.0004	0	0	0	0.0068	0.0008	0.0014	0.0108	0.271	0.24468	T	0.058	0.46182	T	0.0	0.02946	B	0.002	0.06944	B	0.616804	0.05733	N	1.232560	1	0.08975	N	.	.	.	-0.27	0.67367	T	-0.84	0.23590	N	0.125	0.13055	-0.9811	0.34748	T	0.162	0.49748	T	10	0.024886549	0.00701	T	.	.	.	0.109	0.30843	.	.	0.0884992946249	0.08302	0.1613124792866428	0.16052	.	.	0.200619101524	0.00475	T	0.022544	0.17365	T	-0.547403	0.00302	T	-0.551121	0.17219	T	0.00539363786171525	0.00058	T	0.609039	0.23205	T	0.034196056	0.03792	0.036459863	0.03098	0.033009052	0.03435	0.04383823	0.05543	-3.967	0.23308	T	.	.	0.068	0.02927	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.727708	0.01257	0.065	0.88680894306336966	0.18169	0.05817	0.11756	N	AEFDHCI	0.070578	0.14017	N	-1.5934040966404	0.01298	0.05650825	-1.69436569463707	0.01162	0.05229985	0.394897223316251	0.20079	0.65861	0.49226	0	0.573888	0.26702	0	0.725225	0.93170	0	0.564101	0.26826	0	.	.	5.66	-8.52	0.00801	-0.587000	0.05874	-5.250000	0.01790	-0.946000	0.02057	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4556:0.0891:0.4553	11.110	0.47447	952	0.10565	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1627.98	33	chr8	2974553	.	C	T	1627.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.979;DP=872;ExcessHet=0.0000;FS=0.707;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.03;ReadPosRankSum=0.059;SOR=0.826	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1046	20	0	1	0
chr8	3018650	3018650	A	G	exonic	CSMD1	.	nonsynonymous SNV	CSMD1:NM_033225:exon52:c.T7856C:p.V2619A,	.	.	.	.	.	.	.	.	.	0.0030	0.036	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.39	B	0.108	B	0.002	N	1.000	D	1.48	L	1.94	T	-1.113	T	0.040	T	0.294	1.264	10.12	5.0	2.001	9.036	14.995	0.140	.	.	.	1.665e-05	0	0	0	0	3.011e-05	0	0	1.29e-05	2	154602	rs201262421	1.988e-05	2.121e-05	1.908e-05	2.068e-05	0.0014	1.395e-05	1.206e-05	0.0007	0.0005	0	2.242e-05	0	0	0	0.0014	1.532e-05	4.979e-05	0	3.298e-05	3.284e-05	5.156e-05	1.35e-05	5.881e-05	1.264e-05	8.01e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0.0005	0	0.311	0.13971	T	0.001	0.83351	D	0.39	0.34593	B	0.108	0.31289	B	0.002179	0.37095	N	0.175896	0.999998	0.81001	D	.	.	.	1.94	0.22678	T	-3.28	0.65627	D	0.601	0.64223	-1.1134	0.02793	T	0.040	0.17319	T	10	0.24149507	0.41328	T	0.03375	0.55199	D	0.140	0.37593	0.431	0.48007	0.170165803431	0.16609	0.5105738684760998	0.50979	.	.	0.601626753807	0.53134	T	0.075673	0.35344	T	-0.226105	0.17168	T	-0.432109	0.29695	T	0.236301690340042	0.22248	T	0.428457	0.11587	T	0.19679898	0.41522	0.22130658	0.46937	0.19679898	0.41522	0.22130658	0.46936	-8.479	0.64290	D	.	.	0.254	0.48857	B	.;.;.;.	.;.;.;.	2.947265	0.39208	20.9	0.75973669419734269	0.11284	0.99418	0.95776	D	AEFI	0.926986	0.90895	D	-0.137026016826337	0.35789	2.060154	-0.0275663017679998	0.38475	2.267299	0.999580033791525	0.40607	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.0	5.0	0.66209	9.077000	0.93422	10.926000	0.84261	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.607000	0.31564	1.0:0.0:0.0:0.0	14.995	0.71084	952	0.10565	Sushi/SCR/CCP domain;Sushi/SCR/CCP domain;Sushi/SCR/CCP domain;Sushi/SCR/CCP domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	926.98	35	chr8	3018650	.	A	G	926.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.46;DP=768;ExcessHet=0.0000;FS=1.476;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.98;ReadPosRankSum=0.242;SOR=0.418	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1268	20	0	1	0
chr8	6436081	6436081	A	G	exonic	MCPH1	.	nonsynonymous SNV	MCPH1:NM_001172574:exon5:c.A355G:p.K119E	Microcephaly 1, primary, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2413311	Inborn_genetic_diseases|Microcephaly_1,_primary,_autosomal_recessive	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009617,MedGen:C1855081,OMIM:251200,Orphanet:2512,Orphanet:52183	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.995	D	0.82	P	0.001	N	1.000	N	2.485	M	3.48	T	-1.095	T	0.055	T	0.283	3.403	17.49	4.26	2.207	3.794	11.343	0.104	0.0103285162089	.	.	4.983e-05	0	0	0.0006	0	1.504e-05	0	0	3.88e-05	6	154602	rs764901131	1.163e-05	1.163e-05	6.808e-06	1.651e-05	0.0003	7.09e-06	5.79e-06	0.0002	0.0001	0	0	0	0.0003	0	0	2.698e-06	3.312e-05	0	2.627e-05	2.627e-05	0	5.377e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.359e-05	0	0	0	0	0.0006	0	0	0	0	0.0002	0.106	0.37118	T	0.01	0.67890	D	0.962	0.55554	D	0.706	0.54345	P	0.001362	0.39242	N	0.306608	0.999999	0.19363	N	2.51	0.73131	M	3.48	0.08547	T	-2.23	0.52612	N	0.379	0.47487	-1.0954	0.04695	T	0.055	0.23224	T	10	0.10401788	0.19153	T	0.010329	0.26741	T	0.104	0.29647	0.383	0.40134	0.624499334446	0.62144	0.2413891580590586	0.24052	.	.	0.410815298557	0.26570	T	0.230519	0.59661	T	-0.437462	0.01338	T	-0.490315	0.23359	T	0.22530827582572	0.21726	T	.	.	.	0.14560603	0.33369	0.13486923	0.32308	0.14560603	0.33368	0.13486923	0.32307	-10.905	0.79134	D	.	.	0.372	0.60646	A	.;.;.	.;.;.	4.145304	0.62139	24.4	0.99839339449636366	0.91972	0.68818	0.33947	D	AEBI	0.165421	0.29191	N	0.41542004713543	0.62269	4.440094	0.329616786781489	0.57288	3.893882	0.999254713125549	0.38906	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.49	4.26	0.49832	3.257000	0.51201	7.301000	0.58090	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.894000	0.43146	0.8492:0.1508:0.0:0.0	11.343	0.48782	973	0.05605	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	603.98	33	chr8	6436081	.	A	G	603.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.535e+00;DP=747;ExcessHet=0.0000;FS=1.083;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=-1.240e-01;SOR=0.617	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1210	20	0	1	0
chr8	6439052	6439052	G	A	exonic	MCPH1	.	nonsynonymous SNV	MCPH1:NM_001172574:exon6:c.G536A:p.R179K	Microcephaly 1, primary, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.994	D	0.000	D	1.000	D	2.74	M	2.86	T	-0.969	T	0.124	T	0.429	3.285	17.03	5.5	2.741	5.964	17.264	0.181	0.0225692198484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	1.362e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.58626	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	0.999719	0.81001	D	2.585	0.75554	M	2.86	0.13434	T	-1.66	0.44657	N	0.646	0.76481	-0.9685	0.37510	T	0.124	0.42799	T	10	0.60396415	0.67069	D	0.022569	0.45471	T	0.181	0.45247	0.232	0.16005	0.669386746705	0.66659	0.4669121289294924	0.46610	.	.	0.407298445702	0.26083	T	0.346928	0.71512	T	-0.0843929	0.38997	T	-0.359001	0.38168	T	0.93335622549057	0.60005	D	.	.	.	0.45933947	0.64629	0.41183105	0.65403	0.45933947	0.64630	0.41183105	0.65403	-9.541	0.71114	D	.	.	0.236	0.46983	B	.;.	.;.	4.240921	0.64293	24.7	0.99465292039328934	0.66049	0.95370	0.64455	D	AEFBI	0.490283	0.52783	N	0.648766155877296	0.76290	6.459061	0.540307966424217	0.70725	5.547713	0.999999998757797	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.5	5.5	0.81386	6.422000	0.73266	9.541000	0.80962	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:1.0:0.0	17.264	0.86967	975	0.05339	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	103.68	67	chr8	6439052	.	G	A	103.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.700e+00;DP=1145;ExcessHet=0.3300;FS=99.365;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.47;ReadPosRankSum=0.848;SOR=7.168	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:57,0:57:99:.:.:0,120,1800	18	0	3	0
chr8	6445091	6445091	G	A	exonic	MCPH1	.	nonsynonymous SNV	MCPH1:NM_001172575:exon7:c.G1225A:p.E409K	Microcephaly 1, primary, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	196068	not_provided|Microcephaly_1,_primary,_autosomal_recessive	MedGen:C3661900|MONDO:MONDO:0009617,MedGen:C1855081,OMIM:251200,Orphanet:2512,Orphanet:52183	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.37	B	0.206	B	0.583	N	1.000	N	2.19	M	2.74	T	-0.988	T	0.053	T	0.201	3.672	18.66	3.07	0.459	0.912	8.669	0.104	0.00730878203153	0.0011	.	0.0008	0.0003	8.645e-05	0	0.0002	0.0014	0	0	0.0007697	119	154602	rs201039834	0.0014	0.0014	0.0014	0.0013	0.0017	0.0013	0.0013	0.0016	0.0016	0.0002	0.0001	0	0	5.616e-05	0.0002	0.0017	0.0011	1.159e-05	0.0008	0.0008	0.0007	0.0008	0.0014	0.0007	0.0006	0.0012	0.0011	0.0002	0.0099	0.0002	0	0	0	0	0.0014	0.0005	0	0.019	0.52492	D	0.649	0.12456	T	0.277	0.31978	B	0.206	0.37138	B	0.582544	0.05544	N	1.191370	1	0.08975	N	1.555	0.39373	L	2.74	0.11730	T	-1.97	0.45587	N	0.075	0.07262	-0.9879	0.33126	T	0.053	0.22384	T	10	0.004704267	0.00099	T	0.007309	0.19388	T	0.104	0.29647	.	.	0.445711490874	0.44190	0.2184080419756554	0.21756	.	.	0.265304654837	0.05539	T	0.140554	0.47515	T	-0.558055	0.00261	T	-0.599011	0.12895	T	0.0151662829145027	0.00331	T	.	.	.	0.06913597	0.15121	0.090270266	0.21158	0.06913597	0.15121	0.090270266	0.21157	-3.263	0.24400	T	.	.	0.088	0.25785	B	.;.;.	.;.;.	1.658267	0.21151	15.07	0.99245315059914074	0.56695	0.05730	0.11656	N	AEFBI	0.034785	0.04369	N	-0.365640831561271	0.26702	1.459293	-0.407094545676477	0.24789	1.359421	0.906324626680782	0.26228	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	3.07	0.34476	1.110000	0.30761	1.524000	0.27113	-0.106000	0.15538	0.009000	0.18154	0.005000	0.19230	0.920000	0.45560	0.0791:0.306:0.615:0.0	8.669	0.33299	975	0.05339	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1974.98	44	chr8	6445091	.	G	A	1974.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.431;DP=1274;ExcessHet=0.0000;FS=1.947;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=0.185;SOR=0.760	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr8	6445112	6445112	G	A	exonic	MCPH1	.	nonsynonymous SNV	MCPH1:NM_001172575:exon7:c.G1246A:p.V416I	Microcephaly 1, primary, autosomal recessive, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	899936	Microcephaly_1,_primary,_autosomal_recessive|not_provided	MONDO:MONDO:0009617,MedGen:C1855081,OMIM:251200,Orphanet:2512,Orphanet:52183|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.001	B	0.003	B	0.824	N	1.000	N	0.195	N	3.19	T	-0.923	T	0.008	T	0.033	-0.600	1.318	-4.88	-0.370	-0.220	4.098	0.006	0.00274249407825	.	0.00159744	0.0004	0	8.645e-05	0.0002	0	0	0.0022	0.0024	0.0003428	53	154602	rs531526435	0.0002	0.0002	0.0001	0.0002	0.0025	0.0002	0.0002	0.0023	0.0021	5.974e-05	0	0	0.0002	0	0.0003	1.349e-05	0.0002	0.0025	0.0001	0.0001	0.0001	0.0001	0.0027	6.509e-05	5.321e-05	0.0016	0.0013	4.812e-05	0	6.537e-05	0	0	0	0	0	0	0.0027	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.823533	0.09160	N	0.922363	1	0.08975	N	0.57	0.15267	N	3.19	0.07353	T	0.27	0.04306	N	0.043	0.01658	-0.9228	0.45168	T	0.008	0.02926	T	10	0.0034584403	0.00061	T	0.002742	0.05665	T	0.006	0.00375	0.143	0.04650	0.255777322467	0.25185	0.04598565669642853	0.04542	.	.	0.235667839646	0.02414	T	0.05405	0.29613	T	-0.746068	0.00019	T	-0.850309	0.00955	T	0.0100663501184015	0.00135	T	.	.	.	0.017316908	0.00263	0.017646225	0.00036	0.017316908	0.00263	0.017646225	0.00036	-3.513	0.16614	T	.	.	0.071	0.04847	B	.;.;.	.;.;.	-0.758350	0.01191	0.058	0.25403568315035979	0.01169	0.00324	0.01698	N	AEFBI	0.011558	0.00105	N	-1.64797043777782	0.01044	0.04526822	-1.64718870794519	0.01390	0.06282937	0.978832305703481	0.29963	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.76	-4.88	0.02884	-0.942000	0.04031	-0.202000	0.10935	-1.654000	0.00822	0.000000	0.06391	0.000000	0.08366	0.063000	0.16184	0.2088:0.5175:0.1571:0.1166	4.098	0.09475	975	0.05339	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2343.98	44	chr8	6445112	.	G	A	2343.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.82;DP=1205;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=1.73;SOR=0.658	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr8	6811225	6811225	C	T	exonic	XKR5	.	nonsynonymous SNV	XKR5:NM_207411:exon7:c.G2034A:p.M678I	.	.	431	1057	30	4	0	38	0.017658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00259585	0.0053	0.0011	0.0033	0	0.0031	0.0041	0.0047	0.0083	0.0013971	216	154602	rs117373164	0.0045	0.0043	0.0045	0.0046	0.0104	0.0044	0.0044	0.0082	0.0075	0.0006	0.0023	0.0040	2.798e-05	0.0027	0.0104	0.0048	0.0037	0.0065	0.0038	0.0038	0.0038	0.0038	0.0068	0.0036	0.0035	0.0052	0.0051	0.0012	0	0.0037	0.0040	0	0.0024	0.0136	0.0057	0.0052	0.0068	.	.	.	0.488	0.11621	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.5	0.37844	L	.	.	.	.	.	.	0.1	0.08227	.	.	.	.	.	.	.	0.0035387576	0.00063	T	.	.	.	.	.	.	.	0.28297238246	0.27903	0.03234679662189915	0.03182	.	.	0.274632334709	0.06754	T	0.008931	0.08161	T	-0.44065	0.01282	T	-0.402014	0.33151	T	.	.	.	0.39776	0.10046	T	0.48498473	0.66201	0.43728334	0.67153	0.48498473	0.66202	0.43728334	0.67153	-2.876	0.08906	T	.	.	0.165	0.36375	B	.	.	0.067707	0.04768	1.388	0.57063381236429611	0.05687	0.03827	0.09170	N	AEFDBIJ	.	.	.	.	.	.	.	.	.	0.999941470635816	0.47345	0.262962	0.04601	0	0.166317	0.03975	0	0.292756	0.05521	0	0.076217	0.02064	0	0.0496316	0.09113	4.94	0.262	0.14853	-0.371000	0.07569	-0.713000	0.07741	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.5149:0.0:0.4851	7.586	0.27158	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1405.98	34	chr8	6811225	.	C	T	1405.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.428e+00;DP=787;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.20;ReadPosRankSum=-1.565e+00;SOR=0.664	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1529	20	0	1	0
chr8	6936025	6936025	C	T	exonic	DEFA4	.	nonsynonymous SNV	DEFA4:NM_001925:exon3:c.G289A:p.D97N,	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.821	P	.	.	1.000	N	.	.	1.85	T	-1.040	T	0.100	T	0.039	2.186	13.27	0.387	0.452	0.000	.	0.054	0.00436675690579	.	0.000399361	9.062e-05	0	0.0003	0	0	0.0001	0	6.064e-05	8.41e-05	13	154602	rs201104526	4.037e-05	4.105e-05	3.404e-05	4.676e-05	0.0005	3.179e-05	2.911e-05	0.0001	7.544e-05	0	8.945e-05	0	0	0	0.0005	3.418e-05	9.937e-05	9.285e-05	6.571e-05	6.563e-05	5.142e-05	8.066e-05	0.0003	3.517e-05	2.616e-05	8.879e-05	5.388e-05	0	0	0.0003	0	0	0	0	7.352e-05	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	0.996	0.68779	D	0.821	0.59116	P	.	.	.	.	1	0.08975	N	.	.	.	1.85	0.24472	T	-0.25	0.11008	N	0.295	0.33360	-1.0402	0.17253	T	0.100	0.37290	T	7	0.043644637	0.03235	T	0.004367	0.10655	T	0.054	0.15330	.	.	0.126345400529	0.12197	0.04158711943367557	0.04103	0.00330647318829	0.00282	0.491671741009	0.37670	T	0.003154	0.02556	T	-0.496132	0.00601	T	-0.724734	0.04570	T	0.285070290323738	0.24384	T	.	.	.	0.10997806	0.25999	0.15198056	0.35778	0.10997806	0.25999	0.15198056	0.35777	-2.438	0.05371	T	.	.	0.103	0.18331	B	.	.	1.928068	0.24484	16.41	0.99616014170691369	0.75112	0.01747	0.05507	N	AEFBCI	0.028509	0.02523	N	-0.436047942419164	0.24215	1.305985	-0.746104429057774	0.15817	0.8337987	0.99963504339823	0.41205	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.387	0.387	0.15484	0.305000	0.19006	0.000000	0.13247	0.439000	0.21057	0.005000	0.17040	0.121000	0.22902	0.001000	0.02609	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1054.98	34	chr8	6936025	.	C	T	1054.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.13;DP=1996;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.87;ReadPosRankSum=-1.209e+00;SOR=0.654	GT:AD:DP:GQ:PL	0/1:74,45:119:99:1069,0,1812	20	0	1	0
chr8	6936031	6936031	G	A	exonic	DEFA4	.	nonsynonymous SNV	DEFA4:NM_001925:exon3:c.C283T:p.R95C,	.	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.01	B	0.0	B	.	.	1.000	N	.	.	1.76	T	-1.011	T	0.042	T	0.212	0.261	5.411	0.195	0.300	0.000	.	0.032	0.00125339859804	.	.	0.0002	0	0	0.0005	0	0.0003	0.0011	0	0.0001876	29	154602	rs559546450	0.0001	0.0001	0.0002	0.0001	0.0017	0.0001	0.0001	0.0009	0.0007	8.962e-05	8.944e-05	0	0.0009	0	0.0017	0.0001	0.0002	1.16e-05	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	9.7e-05	0.0004	0.0002	0.0001	0	0.0002	0	0.0010	0	0	0.0002	0	0	0.009	0.57480	D	0.024	0.56640	D	0.01	0.15535	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.76	0.25996	T	-0.6	0.17834	N	0.224	0.25130	-1.0106	0.26729	T	0.042	0.18118	T	7	0.04496041	0.03512	T	0.001253	0.01683	T	0.032	0.07718	.	.	0.221019684889	0.21715	0.10476233218858397	0.10406	0.00119037303395	0.00099	0.401863753796	0.25329	T	0.015701	0.13121	T	-0.470603	0.00843	T	-0.604898	0.12403	T	0.0425010765638274	0.04147	T	.	.	.	0.31964955	0.54610	0.17837135	0.40502	0.31964955	0.54610	0.17837135	0.40501	-8.758	0.66125	D	.	.	0.576	0.67882	P	.	.	1.618046	0.20668	14.86	0.93548087041861228	0.23378	0.01937	0.05900	N	AEFBCI	0.038079	0.05336	N	-1.01454242715687	0.08302	0.3887486	-1.17163982716828	0.06388	0.3073058	0.999601757487573	0.40866	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.195	0.195	0.14431	0.767000	0.26238	0.000000	0.13247	-0.265000	0.06832	0.005000	0.17040	0.117000	0.22861	0.011000	0.09372	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1862.98	34	chr8	6936031	.	G	A	1862.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.25;DP=2027;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=0.078;SOR=0.667	GT:AD:DP:GQ:PL	0/0:122,0:122:99:0,120,1800	20	0	1	0
chr8	7333413	7333413	G	A	exonic	USP17L1;USP17L3	.	nonsynonymous SNV	USP17L3:NM_001256871:exon1:c.G1027A:p.E343K	.	.	433	1061	21	7	0	35	0.0162262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00319489	0.0073	0.0029	0.0049	0	0.0132	0.0077	0.0163	0.0100	0.0060801	940	154602	rs117479685	0.0075	0.0074	0.0074	0.0076	0.0120	0.0074	0.0073	0.0110	0.0107	0.0021	0.0047	0.0108	0	0.0151	0.0120	0.0071	0.0081	0.0116	0.0065	0.0065	0.0062	0.0067	0.0121	0.0061	0.0060	0.0096	0.0087	0.0024	0	0.0045	0.0102	0.0002	0.0137	0.0071	0.0073	0.0086	0.0121	.	.	.	0.026	0.55759	D	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.015	0.05111	N	.	.	.	.	.	.	0.163	0.17140	.	.	.	.	.	.	.	0.0043545067	0.00088	T	.	.	.	.	.	.	.	0.0884992946249	0.08302	0.03157667906160756	0.03106	.	.	0.515870451927	0.41046	T	0.005528	0.04982	T	-0.491117	0.00641	T	-0.470271	0.25488	T	.	.	.	0.927707	0.73352	D	0.078882866	0.17991	0.124453545	0.29997	0.078882866	0.17991	0.124453545	0.29996	-4.207	0.26853	T	.	.	0.100	0.17275	B	.	.	1.316169	0.17197	13.02	0.34094756146361083	0.02067	0.00132	0.00814	N	AEFI	.	.	.	.	.	.	.	.	.	1.3125003058538E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0841919	0.19216	0.472	-0.943	0.09866	0.188000	0.16826	-0.128000	0.11649	0.304000	0.19002	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	.	.	.	994	0.00715	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	6822.12	36	chr8	7333413	.	G	A	6822.12	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.25;DP=1208;ExcessHet=0.1072;FS=1.095;InbreedingCoeff=-0.0504;MLEAC=2;MLEAF=0.048;MQ=57.88;MQRankSum=2.61;QD=12.80;ReadPosRankSum=1.99;SOR=0.797	GT:AD:DP:GQ:PL	0/1:136,148:284:99:3718,0,3502	19	0	2	0
chr8	7333465	7333465	T	C	exonic	USP17L1;USP17L3	.	nonsynonymous SNV	USP17L3:NM_001256871:exon1:c.T1079C:p.I360T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0.0035	0.0003	0.0005	0.0005	0.0018	0.0058	0.0006	0.0002305	6	26028	rs34694498	0.0011	0.0015	0.0011	0.0010	0.0239	0.0010	0.0010	0.0222	0.0216	0.0239	0.0008	0.0221	0.0002	1.875e-05	0.0024	0.0002	0.0025	0.0004	0.0020	0.0030	0.0020	0.0020	0.0041	0.0018	0.0017	0.0035	0.0032	0.0041	0	0.0013	0.0310	0.0002	9.479e-05	0.0035	0.0003	0.0035	0.0011	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.28	0.00102	N	.	.	.	.	.	.	0.082	0.05799	.	.	.	.	.	.	.	0.0036797523	0.00067	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	0.017750023390102034	0.01730	.	.	0.464870512486	0.33978	T	0.00513	0.04570	T	-0.541095	0.00330	T	-0.515714	0.20730	T	.	.	.	0.09979	0.00741	T	0.053478066	0.10124	0.14879099	0.35158	0.053478066	0.10124	0.14879099	0.35157	1.713	0.00068	T	.	.	0.060	0.00949	B	.	.	-0.063993	0.03861	0.836	0.41988794801332069	0.03065	0.00114	0.00722	N	AEFI	.	.	.	.	.	.	.	.	.	2.64292858926194E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0448725	0.03863	0.472	-0.815	0.10296	-0.111000	0.10778	0.165000	0.15451	-0.756000	0.03544	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	994	0.00715	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1303.98	36	chr8	7333465	.	T	C	1303.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=957;ExcessHet=0.0000;FS=0.554;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=50.64;MQRankSum=-9.546e+00;QD=6.30;ReadPosRankSum=2.03;SOR=0.759	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	20	0	1	0
chr8	7333519	7333519	G	A	exonic	USP17L1;USP17L3	.	stopgain	USP17L3:NM_001256871:exon1:c.G1133A:p.W378X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.955e-05	0	0	0	0	0	0	0.0002	3.84e-05	1	26028	rs750086487	1.575e-05	1.725e-05	4.293e-06	2.721e-05	0.0002	1.031e-05	8.8e-06	0.0002	0.0001	0	0	0	0	0	0.0002	0	0	0.0002	4.496e-05	4.199e-05	5.861e-05	3.067e-05	0.0002	1.914e-05	1.26e-05	0.0001	6.893e-05	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.692153	0.00041	T	-0.934447	0.00315	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.003073	0.59000	24.0	0.71048944212780185	0.09498	0.00324	0.01698	N	AEFI	.	.	.	.	.	.	.	.	.	3.44833968794639E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0443366	0.03230	0.472	-0.943	0.09866	-0.438000	0.06975	-2.590000	0.03574	-0.689000	0.04143	0.021000	0.19753	0.000000	0.08366	0.004000	0.06068	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3010.08	94	chr8	7333519	.	G	A	3010.08	.	AC=2;AF=0.048;AN=42;DP=899;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=46.34;QD=32.02;SOR=0.976	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	20	1	0	0
chr8	7358105	7358105	A	C	exonic	ZNF705G	.	nonsynonymous SNV	ZNF705G:NM_001164457:exon7:c.T774G:p.C258W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	0.954	D	4.09	H	-1.96	D	0.311	D	0.707	D	0.371	1.334	10.38	0.109	0.156	0.533	4.622	0.255	.	0.0027	0.00419329	0.0010	0.0124	0.0003	0	0	1.505e-05	0	0	0.0009444	146	154602	rs376848739	0.0003	0.0003	0.0003	0.0002	0.0104	0.0002	0.0002	0.0094	0.0091	0.0104	0.0003	0	0	0	0	1.349e-05	0.0004	0	0.0027	0.0029	0.0028	0.0027	0.0099	0.0025	0.0024	0.0091	0.0087	0.0099	0	0.0010	0	0	0	0	7.351e-05	0.0024	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.953727	0.37843	D	4.09	0.97262	H	-1.96	0.85091	D	-10.96	0.99277	D	0.515	0.54584	0.311	0.87728	D	0.707	0.89940	D	7	0.008441597	0.00191	T	.	.	.	0.255	0.56562	.	.	0.585048770503	0.58177	0.02863517232921046	0.02813	9.33143989468E-4	0.00079	0.719897687435	0.70032	T	0.512481	0.82792	D	-0.156402	0.27314	T	-0.146281	0.59572	T	0.22321594286728	0.21623	T	0.730627	0.34608	T	0.74198407	0.80406	0.50251794	0.71242	0.74198407	0.80407	0.50251794	0.71242	-7.909	0.60448	D	.	.	0.256	0.49028	B	.	.	2.414466	0.31037	18.62	0.9795870369615215	0.37158	0.06128	0.12106	N	AEFBI	0.161526	0.28760	N	-0.378156903511655	0.26248	1.431132	-0.704324012921205	0.16852	0.89347	1.18163684097032E-6	0.01202	0.487112	0.14033	0	0.315538	0.05683	2	0.573888	0.23631	0	0.530356	0.10902	0	.	.	0.109	0.109	0.13884	0.067000	0.14378	-4.725000	0.02015	0.272000	0.18543	0.009000	0.18154	0.000000	0.08366	0.413000	0.27073	0.9996:0.0:4.0E-4:0.0	4.622	0.11842	994	0.00715	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3091.06	298	chr8	7358105	.	A	C	3091.06	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.60;DP=2833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0294;MLEAC=1;MLEAF=0.024;MQ=53.56;MQRankSum=2.27;QD=5.55;ReadPosRankSum=-1.035e+00;SOR=0.630	GT:AD:DP:GQ:PL	0/0:90,0:90:99:0,120,1800	20	0	1	0
chr8	7358313	7358313	C	G	exonic	ZNF705G	.	nonsynonymous SNV	ZNF705G:NM_001164457:exon7:c.G566C:p.R189P,	.	.	510	986	26	0	0	26	0.013013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	.	.	.	.	.	.	1.000	N	3.01	M	3.18	T	-1.052	T	0.044	T	0.264	0.977	8.986	0.109	0.042	-4.766	5.282	0.077	0.000308078436627	0.0002	0.000798722	0.0022	0.0001	0.0007	0.0001	0	0.0017	0	0.0084	0.0017788	275	154602	rs368734373	0.0012	0.0013	0.0009	0.0015	0.0126	0.0012	0.0011	0.0099	0.0089	0.0003	0.0007	0.0137	2.52e-05	0	0.0126	0.0005	0.0022	0.0077	0.0010	0.0011	0.0010	0.0011	0.0057	0.0009	0.0008	0.0040	0.0034	0.0001	0	0.0004	0.0139	0	0	0.0172	0.0009	0.0014	0.0057	0.041	0.41915	D	0.102	0.38450	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.49	0.72568	M	3.18	0.07478	T	-3.35	0.66436	D	0.267	0.30233	-1.0523	0.13763	T	0.044	0.19029	T	7	0.016572624	0.00350	T	3.08E-4	0.00027	T	0.077	0.22490	.	.	0.194818534648	0.19098	0.0716437379401887	0.07101	8.38689937476E-4	0.00070	0.519137859344	0.41504	T	0.102249	0.40979	T	-0.599116	0.00148	T	-0.62908	0.10484	T	0.0398025031288163	0.03654	T	0.0150385	0.00084	T	0.52510643	0.68552	0.44012263	0.67341	0.52510643	0.68553	0.44012263	0.67341	-8.71	0.65811	D	.	.	0.907	0.83217	P	.	.	2.121769	0.27008	17.32	0.9403768728901275	0.24156	0.00620	0.02740	N	AEFDBI	0.118989	0.23244	N	-0.752658196188609	0.14560	0.7263734	-1.03829226174489	0.08952	0.4427836	1.78956100016098E-6	0.01202	0.487112	0.14033	0	0.48864	0.07623	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	1.05	0.109	0.13884	-4.227000	0.00308	-20.000000	0.00162	0.233000	0.18164	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.774:0.0:0.226	5.282	0.14991	994	0.00715	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	6807.11	45	chr8	7358313	.	C	G	6807.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.970;DP=2065;ExcessHet=0.1072;FS=0.551;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.88;MQRankSum=0.744;QD=7.58;ReadPosRankSum=1.38;SOR=0.785	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	19	0	2	0
chr8	7972136	7972136	A	G	exonic	USP17L8	.	nonsynonymous SNV	USP17L8:NM_001256872:exon1:c.T1118C:p.I373T,	.	.	1310	208	0	4	0	8	0.0188679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00199681	0.0151	0.0267	0	0	0	0	0	0.0144	0.0003842	10	26028	rs559461327	0.0028	0.0007	0.0029	0.0028	0.0250	0.0026	0.0025	0.0166	0.0139	0.0063	0.0023	0	0	0	0.0250	0.0018	0.0062	0.0026	0.0061	0.0051	0.0059	0.0064	0.0079	0.0054	0.0052	0.0069	0.0066	0.0079	.	0.0011	0	0	0	0	0.0022	0.0055	0	.	.	.	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855	0.21307	L	.	.	.	.	.	.	0.271	0.30687	.	.	.	.	.	.	.	0.008243114	0.00187	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.014820827962515134	0.01439	.	.	0.652650713921	0.60362	T	0.025177	0.18878	T	0.0265286	0.55259	T	-0.19967	0.54677	T	.	.	.	0.79972	0.44511	T	0.06469843	0.13752	0.19872183	0.43719	0.06469843	0.13752	0.19872183	0.43718	-7.109	0.54825	T	.	.	0.252	0.48624	B	.	.	2.089782	0.26587	17.17	0.78814143144105075	0.12464	0.69119	0.34063	D	AEFI	.	.	.	.	.	.	.	.	.	4.95060567593796E-5	0.03989	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.618733	0.41124	.	.	.	3.950000	0.56384	-0.702000	0.07790	0.314000	0.19222	0.997000	0.40164	0.000000	0.08366	0.039000	0.14166	0.9999:0.0:1.0E-4:0.0	5.289	0.15028	988	0.01987	Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.125	3546.95	33	chr8	7972136	.	A	G	3546.95	.	AC=2;AF=0.125;AN=16;DP=223;ExcessHet=0.0000;FS=0.000;MLEAC=5;MLEAF=0.313;MQ=44.80;QD=31.39;SOR=1.035	GT:AD:DP:GQ:PL	./.	7	1	0	13
chr8	7972780	7972780	C	G	exonic	USP17L8	.	nonsynonymous SNV	USP17L8:NM_001256872:exon1:c.G474C:p.Q158H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.457e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	3.09	0.87444	M	.	.	.	.	.	.	0.207	0.22998	.	.	.	.	.	.	.	0.21676353	0.38268	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	0.12003012661667468	0.11930	.	.	0.574879229069	0.49366	T	0.136586	0.46904	T	0.0838972	0.62493	D	-0.117264	0.62025	T	.	.	.	0.992876	0.97681	D	0.04902394	0.08640	0.11124017	0.26832	0.04902394	0.08639	0.11124017	0.26831	-9.695	0.72066	D	.	.	0.594	0.68615	P	.	.	2.728952	0.35717	19.97	0.44140853230365074	0.03372	0.13314	0.17786	N	AEFI	.	.	.	.	.	.	.	.	.	1.23722078219162E-6	0.01202	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0790037	0.18180	0.45	-0.9	0.10008	-0.449000	0.06885	-0.898000	0.07002	0.270000	0.18506	0.409000	0.26241	0.134000	0.23028	0.047000	0.14932	0.0:0.4381:0.0:0.5619	4.057	0.09299	988	0.01987	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.08333	75.28	34	chr8	7972780	.	C	G	75.28	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.00;DP=182;ExcessHet=0.0000;FS=0.000;MLEAC=3;MLEAF=0.250;MQ=36.06;MQRankSum=1.38;QD=18.82;ReadPosRankSum=0.674;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	./.	5	0	1	15
chr8	7972787	7972787	C	T	exonic	USP17L8	.	nonsynonymous SNV	USP17L8:NM_001256872:exon1:c.G467A:p.G156D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1423781450	0	9.714e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.31527	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.965	0.53209	M	.	.	.	.	.	.	0.093	0.07262	.	.	.	.	.	.	.	0.11264664	0.21137	T	.	.	.	.	.	.	.	0.104622674875	0.10061	0.014341871383881275	0.01391	.	.	0.586937189102	0.51062	T	0.024591	0.18549	T	-0.0944303	0.37345	T	-0.373419	0.36491	T	.	.	.	0.272873	0.04620	T	0.06512142	0.13886	0.12666449	0.30502	0.06512142	0.13886	0.12666449	0.30501	-9.576	0.71331	D	.	.	0.122	0.25331	B	.	.	1.001330	0.13799	10.35	0.65011764429199626	0.07653	0.14824	0.18604	N	AEFI	.	.	.	.	.	.	.	.	.	2.18764663578692E-6	0.01202	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0790037	0.18180	0.45	-0.9	0.10008	0.031000	0.13598	-0.273000	0.10332	-0.735000	0.03699	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.7213:0.0:0.2787	4.901	0.13128	988	0.01987	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	74.39	34	chr8	7972787	.	C	T	74.39	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.00;DP=183;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=0.143;MQ=36.06;MQRankSum=1.38;QD=18.60;ReadPosRankSum=0.674;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	./.	6	0	1	14
chr8	7973066	7973066	G	A	exonic	USP17L8	.	nonsynonymous SNV	USP17L8:NM_001256872:exon1:c.C188T:p.A63V,	.	.	1288	232	0	2	0	4	0.00854701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0107	0	0.0095	.	0	0.1351	0	0.4615	0.0002329	36	154602	rs768597669	0.0066	0.0004	0.0055	0.0078	0.1017	0.0059	0.0056	0.0587	0.0460	0	0.0009	0	0	0	0.1017	0.0301	0.0023	0.0088	0.0009	0.0004	0.0014	0.0003	0.0769	0.0005	0.0004	0.0444	0.0348	0.0001	.	0	.	.	0	0	0.0769	0	0	.	.	.	0.198	0.27767	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.175	0.29870	L	.	.	.	.	.	.	0.026	0.00527	.	.	.	.	.	.	.	0.0019731224	0.00027	T	.	.	.	.	.	.	.	0.0716867268079	0.06686	0.029522577790026042	0.02901	.	.	0.464598178864	0.33940	T	0.010284	0.09303	T	-0.47488	0.00793	T	-0.500461	0.22300	T	.	.	.	0.625137	0.24143	T	0.021533862	0.00762	0.07469063	0.16365	0.021533862	0.00761	0.07469063	0.16364	-2.77	0.07910	T	.	.	0.093	0.13969	B	.	.	1.449211	0.18700	13.88	0.71280975916176637	0.09576	0.01682	0.05369	N	AEFI	.	.	.	.	.	.	.	.	.	2.54276724286688E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0790037	0.18180	0.45	0.45	0.15835	1.426000	0.34478	-0.946000	0.06830	0.301000	0.18947	0.486000	0.26847	0.000000	0.08366	0.021000	0.11733	0.3686:0.0:0.6314:0.0	2.888	0.05320	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.1667	4719.59	2	chr8	7973066	.	G	A	4719.59	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-4.620e-01;DP=175;ExcessHet=0.0000;FS=5.229;MLEAC=6;MLEAF=0.500;MQ=56.81;MQRankSum=4.09;QD=29.68;ReadPosRankSum=0.182;SOR=1.052	GT:AD:DP:GQ:PL	./.	5	1	0	15
chr8	7976422	7976422	T	A	exonic	USP17L3	.	nonsynonymous SNV	USP17L3:NM_001256871:exon1:c.A1564T:p.S522C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.44106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.173	0.18512	.	.	.	.	.	.	.	0.11966199	0.22650	T	.	.	.	.	.	.	.	0.0716867268079	0.06686	0.025718632482295337	0.02522	.	.	0.571729838848	0.48923	T	0.024715	0.18622	T	-0.112446	0.34364	T	-0.399298	0.33465	T	.	.	.	0.614838	0.23473	T	0.15158091	0.34451	0.19368686	0.42951	0.15158091	0.34451	0.19368686	0.42950	-4.82	0.34823	T	.	.	0.065	0.01986	B	.	.	2.236873	0.28564	17.84	0.80516811229668028	0.13240	0.00130	0.00805	N	AEFI	.	.	.	.	.	.	.	.	.	1.42000476666978E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0448725	0.03863	0.361	-0.721	0.10625	0.253000	0.18066	-4.259000	0.02252	-0.354000	0.05547	0.144000	0.23566	0.000000	0.08366	0.001000	0.02609	.	.	.	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2	43.37	34	chr8	7976422	.	T	A	43.37	.	AC=2;AF=0.200;AN=10;DP=111;ExcessHet=0.0000;FS=0.000;MLEAC=3;MLEAF=0.300;MQ=37.00;QD=21.69;SOR=0.693	GT:AD:DP:GQ:PL	./.	4	1	0	16
chr8	7976907	7976907	G	A	exonic	USP17L3	.	nonsynonymous SNV	USP17L3:NM_001256871:exon1:c.C1079T:p.T360I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs906769079	0.0004	0.0035	0.0003	0.0006	0.0018	0.0004	0.0003	0.0010	0.0008	4.814e-05	0	0	0.0018	0	0	0.0004	0.0008	0.0009	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.07	0.43721	T	.	.	.	.	.	.	.	.	.	.	.	.	.	2.255	0.64187	M	.	.	.	.	.	.	0.087	0.06454	.	.	.	.	.	.	.	0.014506668	0.00305	T	.	.	.	.	.	.	.	0.0762999501168	0.06990	0.011766013158553934	0.01136	.	.	0.512685418129	0.40597	T	0.021512	0.16737	T	-0.0518595	0.44165	T	-0.312269	0.43416	T	.	.	.	0.150185	0.01264	T	0.106639884	0.25216	0.22582935	0.47541	0.106639884	0.25216	0.22582935	0.47540	-8.992	0.67646	D	.	.	0.147	0.32420	B	.	.	1.730117	0.22019	15.45	0.66203521282350297	0.07990	0.06499	0.12509	N	AEFI	.	.	.	.	.	.	.	.	.	1.11964626091324E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0823262	0.18828	0.432	0.432	0.15742	-0.381000	0.07475	0.678000	0.20656	-0.330000	0.05784	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	988	0.01987	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	40.19	34	chr8	7976907	.	G	A	40.19	.	AC=2;AF=0.143;AN=14;DP=131;ExcessHet=0.0000;FS=0.000;MLEAC=3;MLEAF=0.214;MQ=45.00;QD=20.09;SOR=0.693	GT:AD:DP:GQ:PL	./.	6	1	0	14
chr8	7977010	7977010	C	T	exonic	USP17L3	.	nonsynonymous SNV	USP17L3:NM_001256871:exon1:c.G976A:p.A326T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.126e-05	8.758e-06	0	2.196e-05	5.789e-05	0	0	.	.	5.789e-05	0	0	0	0	0	0	0	0	3.37e-05	2.457e-05	0	7.21e-05	0.0023	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0023	.	.	.	0.713	0.05470	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.265	0.31966	L	.	.	.	.	.	.	0.091	0.06990	.	.	.	.	.	.	.	0.13614684	0.25905	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	0.004773605157395625	0.00449	.	.	0.484179139137	0.36633	T	0.001743	0.01167	T	-0.113341	0.34216	T	-0.400583	0.33317	T	.	.	.	0.114689	0.00872	T	0.06647373	0.14306	0.19292812	0.42833	0.06647373	0.14306	0.19292812	0.42832	-6.083	0.46969	T	.	.	0.083	0.09239	B	.	.	0.361204	0.07339	3.955	0.80423063607202594	0.13196	0.05280	0.11122	N	AEFI	.	.	.	.	.	.	.	.	.	1.49046146947392E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0833892	0.19034	.	.	.	0.436000	0.21244	-7.180000	0.01213	-2.032000	0.00429	0.998000	0.41325	0.000000	0.08366	0.001000	0.02609	.	.	.	988	0.01987	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease, conserved site|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09091	37.11	34	chr8	7977010	.	C	T	37.11	.	AC=2;AF=0.091;AN=22;DP=122;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3617;MLEAC=2;MLEAF=0.091;MQ=24.00;QD=18.56;SOR=0.693	GT:AD:DP:GQ:PL	./.	10	1	0	10
chr8	8319057	8319057	G	T	exonic	PRAG1	.	nonsynonymous SNV	PRAG1:NM_001080826:exon6:c.C3318A:p.D1106E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.003	B	0.011	B	0.001	D	0.789	N	-0.26	N	0.73	T	-1.018	T	0.051	T	0.077	0.153	4.824	2.68	0.105	0.067	9.313	0.034	0.00916788272373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	0.000592	0.43095	D	0.261649	0.789327	0.29244	N	.	.	.	.	.	.	.	.	.	0.09	0.08646	-1.0176	0.24495	T	0.051	0.21728	T	10	0.052407295	0.05270	T	0.009168	0.24107	T	.	.	.	.	0.0551355673512	0.04727	0.18115524547103037	0.18034	.	.	0.368953049183	0.20682	T	0.004081	0.03492	T	-0.278249	0.10853	T	-0.637462	0.09855	T	0.74344265460968	0.42924	D	0.747625	0.36808	T	0.045910053	0.07594	0.08383119	0.19242	0.045910053	0.07594	0.08383119	0.19242	-3.857	0.21659	T	.	.	0.183	0.39765	B	.;.	.;.	1.678510	0.21391	15.18	0.9052923840501127	0.19786	0.75446	0.36940	D	AEFDBHCI	0.192465	0.31962	N	-1.18641720662332	0.05205	0.2367213	-0.991394913256058	0.09978	0.4996744	0.999999943494196	0.74766	0.77792	0.99625	0	0.702456	0.74545	0	0.854111	0.99894	0	0.635551	0.53088	0	.	.	5.48	2.68	0.30839	0.088000	0.14821	1.872000	0.29394	-0.163000	0.11536	0.981000	0.35396	1.000000	0.68203	0.738000	0.35369	0.1322:0.2226:0.6452:0.0	9.313	0.37077	930	0.16408	Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2083.98	94	chr8	8319057	.	G	T	2083.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.610e-01;DP=1618;ExcessHet=0.0000;FS=1.217;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=0.073;SOR=0.567	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,968	20	0	1	0
chr8	8376610	8376610	C	T	exonic	PRAG1	.	nonsynonymous SNV	PRAG1:NM_001080826:exon3:c.G1799A:p.R600Q	.	.	416	1096	9	1	0	11	0.00499319	.	.	3378792	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.39	T	0.059	B	0.005	B	0.588	N	1.000	N	0.55	N	0.52	T	-1.039	T	0.076	T	0.078	1.755	11.83	0.946	0.248	-0.207	4.117	0.029	0.00942722869921	0.0006	0.000199681	0.0005	0.0003	0.0007	0	0	0.0006	0.0024	0.0002	0.0004398	68	154602	rs199706360	0.0004	0.0004	0.0004	0.0004	0.0241	0.0004	0.0004	0.0208	0.0196	0.0004	0.0007	0.0006	2.529e-05	3.812e-05	0.0241	0.0003	0.0010	0.0005	0.0006	0.0006	0.0007	0.0005	0.0014	0.0005	0.0005	0.0007	0.0006	0.0002	0	0.0011	0.0014	0	0	0.0204	0.0006	0.0028	0.0014	.	.	.	0.484	0.11760	T	.	.	.	.	.	.	0.588319	0.11074	N	0.790413	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.077	0.07262	-1.0387	0.17709	T	0.076	0.30584	T	10	0.0119178295	0.00258	T	0.009427	0.24716	T	.	.	.	.	0.0482279557977	0.04254	0.15685933987224282	0.15606	.	.	0.234855204821	0.02346	T	0.007386	0.06799	T	-0.52721	0.00399	T	-0.618023	0.11340	T	0.0101889614287345	0.00138	T	0.687731	0.29668	T	0.0672992	0.14560	0.03747112	0.03407	0.0672992	0.14560	0.03747112	0.03407	-3.551	0.17153	T	.	.	0.075	0.05317	B	.;.	.;.	0.498558	0.08677	5.448	0.97472187580351977	0.34141	0.11273	0.16524	N	AEFDBHCI	0.042692	0.06656	N	-0.973298334379685	0.09177	0.4332447	-0.978407885282487	0.10270	0.516215	0.999998972464268	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.04	0.946	0.18674	0.056000	0.14136	-2.838000	0.03310	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.0:0.3171:0.1847:0.4982	4.117	0.09555	925	0.17918	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	992.98	79	chr8	8376610	.	C	T	992.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.02;DP=1587;ExcessHet=0.0000;FS=0.839;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.11;ReadPosRankSum=-2.403e+00;SOR=0.558	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	20	0	1	0
chr8	8376662	8376662	T	A	exonic	PRAG1	.	nonsynonymous SNV	PRAG1:NM_001080826:exon3:c.A1747T:p.I583F	.	.	411	1108	3	0	0	3	0.00135196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.092	B	0.017	B	0.004	N	1.000	N	1.1	L	0.45	T	-1.014	T	0.074	T	0.081	1.974	12.56	-9.63	-1.844	-3.969	7.895	0.054	0.00288425215175	0.0002	0.00119808	0.0004	0.0001	0.0008	0	0.0002	0.0005	0	6.896e-05	0.0003558	55	154602	rs199715689	0.0003	0.0003	0.0003	0.0003	0.0148	0.0003	0.0003	0.0122	0.0113	0.0001	0.0011	0.0008	0	0.0003	0.0148	0.0002	0.0009	0.0001	0.0006	0.0006	0.0006	0.0006	0.0036	0.0005	0.0004	0.0028	0.0026	2.407e-05	0	0.0036	0.0006	0	0.0002	0.0238	0.0002	0.0024	0	.	.	.	0.219	0.25987	T	.	.	.	.	.	.	0.004104	0.01005	N	3.036110	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.129	0.12913	-1.0143	0.25561	T	0.074	0.29897	T	10	0.0061863363	0.00139	T	0.002884	0.06074	T	.	.	.	.	0.0297737177859	0.01360	0.08798614127158923	0.08731	.	.	0.327813446522	0.14604	T	0.017365	0.14179	T	-0.54467	0.00314	T	-0.666123	0.07859	T	0.0101471628432536	0.00137	T	0.324967	0.06659	T	0.08075437	0.18520	0.05260405	0.08700	0.08075437	0.18520	0.05260405	0.08700	-2.493	0.05734	T	.	.	0.089	0.11989	B	.;.	.;.	-1.657511	0.00213	0.003	0.58609239982661432	0.06032	0.10179	0.15756	N	AEFDBHCI	0.100700	0.20242	N	-1.39363087756731	0.02697	0.119468	-1.56685339831651	0.01862	0.08488616	0.999999999945143	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.697927	0.64325	0	0.636168	0.56350	0	.	.	4.82	-9.63	0.00456	-4.430000	0.00270	-5.041000	0.01874	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0885:0.2829:0.5297:0.0989	7.895	0.28862	925	0.17918	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1160.98	79	chr8	8376662	.	T	A	1160.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.902;DP=1554;ExcessHet=0.0000;FS=0.798;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.04;ReadPosRankSum=0.062;SOR=0.563	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	20	0	1	0
chr8	8377353	8377364	GCCGCTGCCGCT	-	exonic	PRAG1	.	nonframeshift deletion	PRAG1:NM_001080826:exon3:c.1045_1056del:p.S349_L1405delinsASSPFVPHLESDYCSLMKEPAPEKQQDPGCPGVTPSRCLGLTGEPQPPAHPREATQPEPIYAESTKRKKAAPVPSKSQAKIEHAAAAQGQGQVCTGNAWAQKAASGWGRDSPDPTPQVSATITVMAAHPEEDHRTIYLSSPDSAVGVQWPRGPVSQNSEVGEEETSAGQGLSSRESHAHSASESKPKERPAIPPKLSKSSPVGSPVSPSAGGPPVSPLADLSDGSSGGSSIGPQPPSQGPADPAPSCRTNGVAISDPSRCPQPAASSASEQRRPRFQAGTWSRQCRIEEEEEVEQELLSHSWGRETKNGPTDHSNSTTWHRLHPTDGSSGQNSKVGTGMSKSASFAFEFPKDRSGIETFSPPPPPPKSRHLLKMNKSSSDLEKVSQGSAESLSPSFRGVHVSFTTGSTDSLASDSRTCSDGGPSSELAHSPTNSGKKLFAPVPFPSGSTEDVSPSGPQQPPPLPQKKIVSRAASSPDGFFWTQGSPKPGTASPKLNLSHSETNVHDESHFSYSLSPGNRHHPVFSSSDPLEKAFKGSGHWLPAAGLAGNRGGCGSPGLQCKGAPSASSSQLSVSSQASTGSTQLQLHGLLSNISSKEGTYAKLGGLYTQSLARLVAKCEDLFMGGQKKELHFNENNWSLFKLTCNKPCCDSGDAIYYCATCSEDPGSTYAVKICKAPEPKTVSYCSPSVPVHFNIQQDCGHFVASVPSSMLSSPDAPKDPVPALPTHPPAQEQDCVVVITREVPHQTASDFVRDSAASHQAEPEAYERRVCFLLLQLCNGLEHLKEHGIIHRDLCLENLLLVHCTLQAGPGPAPAPAPAPAPAAAAPPCSSAAPPAGGTLSPAAGPASPEGPREKQLPRLIISNFLKAKQKPGGTPNLQQKKSQARLAPEIVSASQYRKFDEFQTGILIYELLHQPNPFEVRAQLRERDYRQEDLPPLPALSLYSPGLQQLAHLLLEADPIKRIRIGEAKRVLQCLLWGPRRELVQQPGTSEEALCGTLHNWIDMKRALMMMKFAEKAVDRRRGVELEDWLCCQYLASAEPGALLQSLKLLQLL*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1275152506	0.0002	0.0002	0.0003	0.0002	0.0066	0.0002	0.0002	0.0058	0.0056	0.0066	0.0003	0	7.61e-05	0	0	3.646e-05	0.0005	0.0001	0.0017	0.0017	0.0017	0.0017	0.0059	0.0015	0.0015	0.0053	0.0050	0.0059	0	0.0004	0	0	9.557e-05	0	7.393e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	27670.54	87	chr8	8377352	.	CGCCGCTGCCGCT	C,CGCCGCT	27670.54	.	AC=1,15;AF=0.024,0.357;AN=42;BaseQRankSum=0.016;DP=1905;ExcessHet=4.5793;FS=0.000;InbreedingCoeff=-0.2115;MLEAC=1,15;MLEAF=0.024,0.357;MQ=60.00;MQRankSum=0.00;QD=22.31;ReadPosRankSum=0.294;SOR=0.704	GT:AD:DP:GQ:PL	0/2:44,0,54:98:99:2130,2262,4100,0,1837,1674	7	0	1	0
chr8	8377359	8377364	GCCGCT	-	exonic	PRAG1	.	nonframeshift deletion	PRAG1:NM_001080826:exon3:c.1045_1050del:p.S351_L1405delinsASSPFVPHLESDYCSLMKEPAPEKQQDPGCPGVTPSRCLGLTGEPQPPAHPREATQPEPIYAESTKRKKAAPVPSKSQAKIEHAAAAQGQGQVCTGNAWAQKAASGWGRDSPDPTPQVSATITVMAAHPEEDHRTIYLSSPDSAVGVQWPRGPVSQNSEVGEEETSAGQGLSSRESHAHSASESKPKERPAIPPKLSKSSPVGSPVSPSAGGPPVSPLADLSDGSSGGSSIGPQPPSQGPADPAPSCRTNGVAISDPSRCPQPAASSASEQRRPRFQAGTWSRQCRIEEEEEVEQELLSHSWGRETKNGPTDHSNSTTWHRLHPTDGSSGQNSKVGTGMSKSASFAFEFPKDRSGIETFSPPPPPPKSRHLLKMNKSSSDLEKVSQGSAESLSPSFRGVHVSFTTGSTDSLASDSRTCSDGGPSSELAHSPTNSGKKLFAPVPFPSGSTEDVSPSGPQQPPPLPQKKIVSRAASSPDGFFWTQGSPKPGTASPKLNLSHSETNVHDESHFSYSLSPGNRHHPVFSSSDPLEKAFKGSGHWLPAAGLAGNRGGCGSPGLQCKGAPSASSSQLSVSSQASTGSTQLQLHGLLSNISSKEGTYAKLGGLYTQSLARLVAKCEDLFMGGQKKELHFNENNWSLFKLTCNKPCCDSGDAIYYCATCSEDPGSTYAVKICKAPEPKTVSYCSPSVPVHFNIQQDCGHFVASVPSSMLSSPDAPKDPVPALPTHPPAQEQDCVVVITREVPHQTASDFVRDSAASHQAEPEAYERRVCFLLLQLCNGLEHLKEHGIIHRDLCLENLLLVHCTLQAGPGPAPAPAPAPAPAAAAPPCSSAAPPAGGTLSPAAGPASPEGPREKQLPRLIISNFLKAKQKPGGTPNLQQKKSQARLAPEIVSASQYRKFDEFQTGILIYELLHQPNPFEVRAQLRERDYRQEDLPPLPALSLYSPGLQQLAHLLLEADPIKRIRIGEAKRVLQCLLWGPRRELVQQPGTSEEALCGTLHNWIDMKRALMMMKFAEKAVDRRRGVELEDWLCCQYLASAEPGALLQSLKLLQLL*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0072	0.0009	0.0003	0.0003	5.986e-05	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	27670.54	87	chr8	8377352	.	CGCCGCTGCCGCT	C,CGCCGCT	27670.54	.	AC=1,15;AF=0.024,0.357;AN=42;BaseQRankSum=0.016;DP=1905;ExcessHet=4.5793;FS=0.000;InbreedingCoeff=-0.2115;MLEAC=1,15;MLEAF=0.024,0.357;MQ=60.00;MQRankSum=0.00;QD=22.31;ReadPosRankSum=0.294;SOR=0.704	GT:AD:DP:GQ:PL	0/2:44,0,54:98:99:2130,2262,4100,0,1837,1674	7	0	1	0
chr8	8377545	8377545	G	C	exonic	PRAG1	.	nonsynonymous SNV	PRAG1:NM_001080826:exon3:c.C864G:p.C288W	.	.	417	1101	4	0	0	4	0.00181324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.995	D	0.866	P	0.124	N	1.000	D	0.895	L	0.23	T	-0.773	T	0.131	T	0.448	2.144	13.13	4.56	1.433	0.316	11.960	0.270	.	0.0054	0.00579073	0.0022	0.0220	0.0015	0	0.0002	0.0005	0	0.0002	0.0019469	301	154602	rs11988457	0.0008	0.0008	0.0010	0.0007	0.0189	0.0008	0.0008	0.0177	0.0172	0.0189	0.0022	0.0008	0	0.0003	0.0153	0.0002	0.0023	0.0002	0.0060	0.0060	0.0061	0.0059	0.0192	0.0057	0.0056	0.0181	0.0176	0.0192	0	0.0052	0.0006	0	0.0002	0.0238	0.0003	0.0047	0	.	.	.	0.017	0.60337	D	0.995	0.67487	D	0.866	0.61580	P	0.123721	0.18908	N	0.469935	0.999821	0.49512	D	.	.	.	.	.	.	.	.	.	0.569	0.59223	-0.7729	0.56698	T	0.131	0.44228	T	10	0.007582903	0.00172	T	.	.	.	.	.	.	.	0.27479166964	0.27093	0.1795433734291691	0.17873	.	.	0.328255057335	0.14671	T	0.085355	0.37482	T	-0.378741	0.03173	T	-0.301216	0.44596	T	0.0137704659004195	0.00259	T	0.59544	0.22079	T	0.11954502	0.28146	0.1320243	0.31691	0.11954502	0.28146	0.1320243	0.31690	-4.603	0.32209	T	.	.	0.192	0.41078	B	.;.	.;.	1.979992	0.25155	16.66	0.99057821608252516	0.51413	0.47395	0.27973	N	AEFDBHCI	0.274297	0.38951	N	-0.119396313935642	0.36549	2.114085	-0.187402738312455	0.31998	1.816229	0.999999888212797	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.44	4.56	0.55644	0.781000	0.26435	3.670000	0.39434	-0.114000	0.14653	0.173000	0.23973	1.000000	0.68203	0.031000	0.13245	0.0804:0.0:0.9196:0.0	11.960	0.52293	929	0.16858	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1276.98	39	chr8	8377545	.	G	C	1276.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.089e+00;DP=1055;ExcessHet=0.0000;FS=5.791;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=0.620;SOR=0.562	GT:AD:DP:GQ:PL	0/0:66,0:66:99:0,120,1800	20	0	1	0
chr8	8377708	8377708	G	A	exonic	PRAG1	.	nonsynonymous SNV	PRAG1:NM_001080826:exon3:c.C701T:p.S234L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.999	D	0.908	P	0.568	N	0.983	N	0.975	L	0.01	T	-0.884	T	0.256	T	0.401	3.898	19.82	4.46	2.780	0.662	10.197	0.174	0.00559372030202	.	.	8.336e-05	0	8.66e-05	0.0005	0	1.512e-05	0	0.0002	6.47e-05	10	154602	rs749345117	3.626e-05	3.625e-05	2.859e-05	4.401e-05	0.0003	2.828e-05	2.565e-05	0.0002	0.0001	0	2.236e-05	0	0.0002	1.878e-05	0.0003	1.439e-05	6.624e-05	0.0003	6.574e-06	6.568e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	0.117	0.36365	T	0.999	0.77913	D	0.908	0.64494	P	0.567796	0.11270	N	0.736593	0.983335	0.24892	N	.	.	.	.	.	.	.	.	.	0.182	0.19728	-0.8845	0.49398	T	0.256	0.62676	T	10	0.08250022	0.13623	T	0.005594	0.14439	T	.	.	0.117	0.02508	0.332902724076	0.32905	0.19069059892514872	0.18987	.	.	0.405740767717	0.25867	T	0.020116	0.15899	T	-0.246369	0.14547	T	-0.299519	0.44776	T	0.121531025253806	0.14579	T	0.753825	0.37593	T	0.06613285	0.14201	0.118315436	0.28560	0.06613285	0.14201	0.118315436	0.28559	-3.623	0.18190	T	.	.	0.109	0.20857	B	.;.	.;.	2.315209	0.29642	18.19	0.99920200889992439	0.98721	0.35681	0.25358	N	AEFDBCI	0.047731	0.08070	N	0.209317181237743	0.51651	3.344623	0.203512606446516	0.50043	3.200459	0.999998989977898	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.55	4.46	0.53567	0.693000	0.25176	2.435000	0.32748	0.676000	0.76740	0.267000	0.25017	0.996000	0.32793	0.930000	0.46718	0.1249:0.0:0.8751:0.0	10.197	0.42234	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1511.98	39	chr8	8377708	.	G	A	1511.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.28;DP=1015;ExcessHet=0.0000;FS=0.794;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.75;ReadPosRankSum=0.073;SOR=0.795	GT:AD:DP:GQ:PL	0/0:66,0:66:99:0,120,1800	20	0	1	0
chr8	9011616	9011616	A	G	exonic	ERI1	.	nonsynonymous SNV	ERI1:NM_001354635:exon3:c.A128G:p.N43S	.	.	427	1091	3	1	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.898	N	1.000	N	-0.975	N	1.0	T	-0.995	T	0.025	T	0.014	0.711	7.789	-5.81	-1.072	-3.363	5.932	0.031	0.00324236033517	0.0035	0.00119808	0.0037	0.0012	0.0024	0	0.0024	0.0057	0.0011	0.0004	0.0039974	618	154602	rs138826421	0.0054	0.0054	0.0056	0.0053	0.0066	0.0053	0.0053	0.0065	0.0064	0.0008	0.0025	0.0018	7.564e-05	0.0019	0.0007	0.0066	0.0036	0.0006	0.0036	0.0036	0.0036	0.0035	0.0059	0.0033	0.0032	0.0054	0.0052	0.0011	0	0.0039	0.0023	0	0.0022	0	0.0059	0.0033	0	0.707	0.04081	T	0.842	0.03589	T	0.0	0.02946	B	0.0	0.01387	B	0.898435	0.08638	N	0.961988	1	0.08975	N	-1.01	0.01154	N	1.0	0.41392	T	-0.21	0.10308	N	0.038	0.01203	-0.9947	0.31379	T	0.025	0.10777	T	10	0.0024873018	0.00037	T	0.003242	0.07147	T	0.031	0.07369	.	.	0.0551355673512	0.04727	0.23812288902091333	0.23726	0.00755920154266	0.00669	0.291251063347	0.09104	T	0.064149	0.32359	T	-0.731445	0.00023	T	-0.813058	0.01597	T	0.00279867897658616	0.00029	T	0.465053	0.13602	T	0.06421049	0.13600	0.030268077	0.01462	0.05767302	0.11508	0.035051458	0.02684	-2.867	0.08818	T	.	.	0.055	0.00444	B	.;.;.	.;.;.	-2.649391	0.00022	0.001	0.54543769506255324	0.05159	0.10515	0.16001	N	AEBCI	0.112116	0.22174	N	-1.70589463079473	0.00821	0.03549927	-1.63706791353157	0.01444	0.06531839	0.999992110238084	0.74766	0.732398	0.92422	0	0.658105	0.61773	0	0.743671	0.96076	0	0.631631	0.49550	0	.	.	5.79	-5.81	0.02148	-3.302000	0.00576	-5.283000	0.01777	-0.648000	0.04400	0.000000	0.06391	0.000000	0.08366	0.728000	0.35033	0.318:0.0978:0.4798:0.1044	5.932	0.18380	875	0.30485	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1129.98	34	chr8	9011616	.	A	G	1129.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.151e+00;DP=834;ExcessHet=0.0000;FS=0.678;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.11;ReadPosRankSum=0.619;SOR=0.819	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1282	20	0	1	0
chr8	9088538	9088538	G	A	exonic	ERI1	.	nonsynonymous SNV	ERI1:NM_001354638:exon7:c.G886A:p.G296R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0501198	.	.	.	.	.	.	.	.	0.0175196	456	26028	rs80164148	0	0.0003	0	0	.	0	0	.	.	.	.	.	.	0	.	0	.	.	0.0088	0.0089	0.0080	0.0096	0.1829	0.0084	0.0082	0.1732	0.1693	0.0013	0	0.0026	0.0009	0.1829	0.0008	0	0.0027	0.0109	0.0162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	39.47	49	chr8	9088538	.	G	A	39.47	.	AC=2;AF=0.111;AN=18;DP=49;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=0.111;MQ=60.00;QD=19.74;SOR=0.693	GT:AD:DP:GQ:PL	./.	8	1	0	12
chr8	9556063	9556063	G	C	exonic	TNKS	.	nonsynonymous SNV	TNKS:NM_003747:exon1:c.G124C:p.G42R,	.	.	401	1119	2	0	0	2	0.000892857	.	.	2373989	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	0.232	B	0.103	B	0.001	N	1.000	D	0.55	N	0.13	T	-0.941	T	0.131	T	0.442	3.818	19.39	4.84	2.667	1.581	16.252	0.064	0.152161887745	.	.	0.0001	0	9.089e-05	0	0	5.24e-05	0	0.0005	9.06e-05	14	154602	rs754746323	9.339e-05	9.303e-05	8.334e-05	0.0001	0.0011	8.056e-05	7.547e-05	0.0005	0.0005	0	0.0002	3.868e-05	5.045e-05	0	0.0011	5.133e-05	0.0001	0.0006	0.0001	0.0001	6.427e-05	0.0001	0.0010	6.508e-05	5.32e-05	0.0004	0.0003	0	0	0.0001	0	0.0002	0	0.0034	0.0001	0	0.0010	0.051	0.91255	T	0.07	0.43721	T	0.077	0.30664	B	0.093	0.30945	B	0.001124	0.40136	N	0.101814	0.99698	0.43549	D	0	0.06538	N	0.1	0.61326	T	-0.31	0.12099	N	0.468	0.54584	-0.9406	0.42521	T	0.131	0.44248	T	10	0.07780698	0.12323	T	0.152162	0.83362	D	0.064	0.18567	0.247	0.18293	0.302481332339	0.29867	0.15953209109605399	0.15874	0.447635886102	0.44616	0.894666790962	0.95828	D	0.29368	0.66638	T	-0.172697	0.24828	T	-0.134125	0.60623	T	0.110118848425151	0.13436	T	0.831017	0.49766	T	0.16243571	0.36319	0.30724406	0.56746	0.16243571	0.36319	0.30724406	0.56745	-5.409	0.41006	T	.	.	0.344	0.56191	A	.;.;.	.;.;.	4.546835	0.71521	25.7	0.9975275427680208	0.84382	0.73355	0.35883	D	ALL	0.196088	0.32308	N	-0.0607858490694378	0.39122	2.302053	0.112905291979218	0.45207	2.788057	1.0	0.98316	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	4.84	4.84	0.62125	2.055000	0.40971	9.106000	0.78790	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	16.252	0.82316	574	0.70151	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	785.98	33	chr8	9556063	.	G	C	785.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.94;DP=807;ExcessHet=0.0000;FS=3.023;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.95;ReadPosRankSum=0.260;SOR=0.657	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,974	20	0	1	0
chr8	10529573	10529573	C	T	exonic	PRSS55	.	nonsynonymous SNV	PRSS55:NM_001197020:exon2:c.C221T:p.A74V	.	.	413	1107	2	0	0	2	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	.	.	0.982	D	1.08	L	-3.42	D	0.686	D	0.821	D	0.468	2.771	15.23	3.18	1.291	1.921	8.056	0.630	0.195434679622	0.0002	0.000199681	0.0001	9.61e-05	0	0	0.0002	0.0002	0	6.056e-05	0.0001229	19	154602	rs144558050	0.0001	0.0001	0.0001	0.0001	0.0029	0.0001	0.0001	0.0019	0.0015	8.961e-05	0.0001	0.0005	0	7.488e-05	0.0029	0.0001	0.0003	5.797e-05	8.538e-05	8.53e-05	0.0001	5.373e-05	0.0002	4.955e-05	3.961e-05	4.766e-05	3.339e-05	2.407e-05	0	6.534e-05	0.0003	0.0002	0	0.0034	0.0001	0.0005	0	0.001	0.78490	D	0.121	0.36365	T	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.981638	0.39799	D	2.12	0.58754	M	-3.42	0.94348	D	-2.96	0.62747	D	0.254	0.28732	0.686	0.92999	D	0.821	0.93976	D	9	0.15608734	0.29404	T	0.195435	0.86421	D	0.630	0.85769	.	.	0.618726512964	0.61563	0.6270797257239591	0.62640	0.00282128093955	0.00241	0.386982083321	0.23243	T	0.299813	0.67233	T	-0.0211373	0.48691	T	-0.0314702	0.68270	D	0.197159290313721	0.20258	T	0.662434	0.27137	T	0.24253187	0.47182	0.30196688	0.56228	0.24253187	0.47182	0.30196688	0.56228	-6.365	0.49665	T	.	.	0.538	0.69922	A	.;.	.;.	3.546895	0.49836	22.8	0.99814511374280945	0.89797	0.76127	0.37314	D	AEFDBI	0.181931	0.30925	N	0.04604608441008	0.43961	2.678937	-0.040270661552121	0.37915	2.226451	0.173883976295024	0.17775	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.05	3.18	0.35615	3.110000	0.50045	3.583000	0.39163	-0.173000	0.11020	0.990000	0.36992	0.999000	0.35428	0.005000	0.06747	0.0:0.8904:0.0:0.1096	8.056	0.29765	894	0.26265	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2568.98	35	chr8	10529573	.	C	T	2568.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=917;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=0.112;SOR=0.730	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1149	20	0	1	0
chr8	10531314	10531314	G	A	exonic	PRSS55	.	nonsynonymous SNV	PRSS55:NM_001197020:exon3:c.G367A:p.V123M	.	.	402	1116	4	0	0	4	0.00178891	.	.	2760963	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.447	B	0.116	B	0.446	N	1.000	N	2.13	M	-2.53	D	-0.280	T	0.580	D	0.376	1.241	10.04	2.77	0.618	2.530	7.543	0.364	0.065251626172	0.0014	0.000599042	0.0010	0.0004	0.0008	0	0	0.0015	0	0.0003	0.0010996	170	154602	rs141545763	0.0014	0.0014	0.0014	0.0013	0.0028	0.0013	0.0013	0.0017	0.0015	0.0005	0.0013	0.0009	0.0003	5.625e-05	0.0028	0.0016	0.0012	0.0004	0.0010	0.0010	0.0011	0.0009	0.0017	0.0009	0.0008	0.0014	0.0013	0.0003	0	0.0012	0.0006	0	0	0	0.0017	0.0014	0.0004	0.082	0.33254	T	0.306	0.20100	T	0.447	0.36006	B	0.116	0.31939	B	0.445528	0.12573	N	0.598962	1	0.08975	N	1.615	0.41426	L	-2.53	0.89430	D	-1.24	0.42575	N	0.304	0.34336	-0.2804	0.75530	T	0.580	0.84880	D	10	0.020493835	0.00473	T	0.065252	0.69523	D	0.364	0.68407	.	.	0.440604514059	0.43682	0.6513069964869815	0.65066	0.00164746156263	0.00138	0.432235956192	0.29514	T	0.224253	0.58863	T	-0.307214	0.07996	T	-0.220544	0.52685	T	0.00787425441039068	0.00093	T	0.670533	0.27914	T	0.064563766	0.13712	0.0667603	0.13721	0.064563766	0.13711	0.0667603	0.13720	-7.222	0.55639	T	.	.	0.172	0.52565	B	.;.	.;.	2.034001	0.25852	16.91	0.94437704749893081	0.24859	0.14108	0.18227	N	AEFBI	0.102575	0.20573	N	-0.556942686977576	0.20267	1.067126	-0.638858267793219	0.18499	0.9884616	0.00213028979470996	0.09174	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.58	2.77	0.31614	1.576000	0.36113	3.625000	0.39297	-0.119000	0.14319	0.006000	0.17386	0.881000	0.27706	0.121000	0.19209	0.2055:0.0:0.7945:0.0	7.543	0.26919	889	0.27310	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1184.98	40	chr8	10531314	.	G	A	1184.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.82;DP=806;ExcessHet=0.0000;FS=2.646;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=0.376;SOR=0.454	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1210	20	0	1	0
chr8	10608750	10608750	G	A	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.C5348T:p.A1783V,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	312196	Occult_macular_dystrophy	Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.29	T	0.001	B	0.0	B	.	.	1.000	N	0.345	N	3.88	T	-0.944	T	0.006	T	0.048	-1.773	0.010	-6.84	-2.810	-7.681	4.317	0.008	0.00332291567661	8e-05	0.000399361	0.0002	0	0	0	0	1.498e-05	0	0.0015	0.0001876	29	154602	rs374403002	8.209e-05	8.209e-05	6.942e-05	9.488e-05	0.0010	7.002e-05	6.552e-05	0.0009	0.0008	2.987e-05	2.236e-05	0	0	0	0	1.709e-05	0.0002	0.0010	9.196e-05	9.188e-05	7.712e-05	0.0001	0.0021	5.526e-05	4.363e-05	0.0011	0.0009	7.223e-05	0	0	0	0	0	0	1.47e-05	0	0.0021	1.0	0.00964	T	0.303	0.20164	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.88	0.03570	T	-0.25	0.11008	N	0.067	0.03956	-0.9438	0.42009	T	0.006	0.01944	T	9	0.009238869	0.00209	T	0.003323	0.07390	T	0.008	0.00669	.	.	0.0138822411134	0.00435	0.04750982101979302	0.04693	.	.	0.186014384031	0.00162	T	.	.	.	-0.724619	0.00026	T	-0.864082	0.00800	T	0.0172679783159195	0.00468	T	0.343166	0.07474	T	0.019504359	0.00482	0.036488973	0.03107	0.019504359	0.00482	0.036488973	0.03107	-4.068	0.24817	T	.	.	0.082	0.08609	B	.	.	-1.363355	0.00387	0.007	0.1027266082527646	0.00125	0.00337	0.01752	N	AEFBI	0.027555	0.02273	N	-2.34611509784462	0.00036	0.001538078	-2.44488650397767	0.00031	0.001364217	0.2725058269744	0.18906	0.554377	0.28877	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	3.42	-6.84	0.01527	-5.986000	0.00105	-7.756000	0.01092	-1.475000	0.01066	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2282:0.2099:0.4576:0.1043	4.317	0.10441	795	0.45444	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.02381	2405.98	135	chr8	10608750	.	G	A	2405.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.870e+00;DP=2352;ExcessHet=0.0000;FS=1.079;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=0.879;SOR=0.596	GT:AD:DP:GQ:PL	0/0:132,0:132:99:0,120,1800	20	0	1	0
chr8	10609233	10609233	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4865A:p.R1622Q,	Occult macular dystrophy, Autosomal dominant	.	0	1515	7	0	0	7	0.00230491	.	.	312221	Occult_macular_dystrophy|not_specified|not_provided	Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.25	T	0.032	B	0.001	B	.	.	1.000	N	-0.46	N	3.88	T	-0.916	T	0.004	T	0.024	0.138	4.740	-2.94	-0.734	0.468	6.582	0.049	0.00569248745952	0.0073	0.00399361	0.0036	0.0079	0.0022	0	0.0036	0.0043	0.0024	0.0014	0.0036934	571	154602	rs151260617	0.0065	0.0065	0.0067	0.0062	0.0075	0.0064	0.0063	0.0074	0.0074	0.0073	0.0023	3.828e-05	0.0001	0.0027	0.0009	0.0075	0.0064	0.0018	0.0060	0.0060	0.0065	0.0055	0.0080	0.0057	0.0056	0.0073	0.0070	0.0080	0	0.0029	0	0	0.0024	0	0.0073	0.0052	0.0014	0.718	0.03949	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.88	0.03570	T	0.61	0.02480	N	0.063	0.03502	-0.9158	0.46116	T	0.004	0.01125	T	9	0.0054154694	0.00119	T	0.005692	0.14742	T	0.049	0.13647	.	.	0.0297737177859	0.01360	0.018656061060546472	0.01819	.	.	0.229649305344	0.01942	T	0.091427	0.38793	T	-0.788247	0.00009	T	-0.899066	0.00509	T	0.00068266095198661	0.00006	T	0.523848	0.17156	T	0.024221474	0.01232	0.030853312	0.01594	0.024221474	0.01232	0.030853312	0.01594	-3.597	0.17813	T	.	.	0.095	0.14797	B	.	.	0.336158	0.07097	3.673	0.24328776932467649	0.01070	0.00360	0.01845	N	AEFDBI	0.026000	0.01877	N	-1.25311265889627	0.04258	0.191855	-1.27555137642762	0.04763	0.2254492	2.18804902596741E-4	0.05997	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.38	-2.94	0.05245	0.076000	0.14570	-1.000000	0.06649	0.549000	0.26987	0.092000	0.22623	0.000000	0.08366	0.006000	0.07323	0.0:0.2025:0.5185:0.279	6.582	0.21793	795	0.45444	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1446.98	53	chr8	10609233	.	C	T	1446.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.74;DP=1224;ExcessHet=0.0000;FS=3.446;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=0.746;SOR=1.050	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,111,1422	20	0	1	0
chr8	10609944	10609944	A	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.T4154C:p.L1385P,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.027	B	0.014	B	.	.	1.000	N	0.345	N	3.31	T	-0.952	T	0.010	T	0.123	0.824	8.317	-1.96	-0.572	0.007	4.524	0.019	0.00154599027019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.957e-07	6.841e-06	1.384e-06	0	9.147e-07	0	0	.	.	0	0	0	0	0	0	9.147e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.352	0.17372	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.31	0.06291	T	-0.84	0.22944	N	0.246	0.27792	-0.9521	0.40608	T	0.010	0.03627	T	9	0.09340763	0.16528	T	0.001546	0.02420	T	0.019	0.03383	0.19	0.10039	0.252681307341	0.24864	0.04820050725330025	0.04763	.	.	0.277951002121	0.07208	T	.	.	.	-0.338111	0.05520	T	-0.723449	0.04631	T	0.104427913888091	0.12837	T	0.312769	0.06128	T	0.18423171	0.39729	0.18186693	0.41077	0.18423171	0.39728	0.18186693	0.41076	-5.006	0.36905	T	.	.	0.116	0.23500	B	.	.	1.339715	0.17462	13.18	0.83328979539444226	0.14666	0.00623	0.02749	N	AEFDBI	0.039816	0.05836	N	-1.21499860110366	0.04781	0.2165456	-1.31279977474022	0.04264	0.2007433	1.76998291139271E-4	0.05786	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	1.72	-1.96	0.07113	-0.566000	0.06013	-0.531000	0.08635	0.410000	0.20643	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4099:0.1824:0.4077:0.0	4.524	0.11378	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4444	23209.27	218	chr8	10609944	.	A	G	23209.27	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-3.977e+00;DP=5343;ExcessHet=20.9642;FS=235.485;InbreedingCoeff=-0.7143;MLEAC=18;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=5.49;ReadPosRankSum=0.786;SOR=14.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,109:273:99:0|1:10609943_C_T:2710,0,5530:10609943	2	0	16	3
chr8	10609948	10609948	C	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150C:p.G1384R,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3188301	Retinal_dystrophy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.992	D	0.584	P	.	.	1.000	N	0.345	N	3.32	T	-0.947	T	0.014	T	0.044	-1.090	0.153	0.493	0.514	-0.384	6.300	0.045	0.00162238193855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.94e-06	1.642e-05	1.095e-05	6.912e-06	0.0003	4.99e-06	3.84e-06	0.0002	0.0002	0	0	0	0.0003	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.10402462	0.19156	T	0.001622	0.02625	T	0.045	0.12272	0.278	0.23164	0.316788114976	0.31282	0.06568765536653219	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.397244	0.02413	T	-0.80839	0.01701	T	0.0790720420029634	0.09867	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.672697	0.10411	7.134	0.053606148112299815	0.00010	0.02277	0.06569	N	AEFDBI	0.028927	0.02637	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28582.14	217	chr8	10609948	.	C	G,T	28582.14	.	AC=15,2;AF=0.441,0.059;AN=34;BaseQRankSum=-3.070e+00;DP=5190;ExcessHet=25.1139;FS=287.113;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.500,0.059;MQ=60.00;MQRankSum=0.00;QD=6.48;ReadPosRankSum=0.966;SOR=14.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,109,0:274:99:0|1:10609943_C_T:2707,0,5533,3195,5849,9044:10609943	0	0	15	4
chr8	10609948	10609948	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150A:p.G1384R,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.992	D	0.584	P	.	.	1.000	N	0.345	N	3.32	T	-0.947	T	0.014	T	0.044	-0.967	0.313	0.493	0.514	-0.384	6.300	0.050	0.00160529655429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.751e-06	2.736e-06	1.369e-06	4.147e-06	3.01e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	3.01e-05	0	0	0	0	0	2.712e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.104384124	0.19241	T	0.001605	0.02574	T	0.050	0.13987	0.278	0.23164	0.316788114976	0.31282	0.06568764159549773	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.39725	0.02413	T	-0.808399	0.01701	T	0.0816829286653207	0.10202	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.735258	0.11045	7.700	0.060865936656048288	0.00019	0.01778	0.05572	N	AEFDBI	0.030371	0.03043	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28582.14	217	chr8	10609948	.	C	G,T	28582.14	.	AC=15,2;AF=0.441,0.059;AN=34;BaseQRankSum=-3.070e+00;DP=5190;ExcessHet=25.1139;FS=287.113;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.500,0.059;MQ=60.00;MQRankSum=0.00;QD=6.48;ReadPosRankSum=0.966;SOR=14.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,109,0:274:99:0|1:10609943_C_T:2707,0,5533,3195,5849,9044:10609943	0	0	15	4
chr8	10609951	10609951	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4147A:p.G1383R,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.198	B	0.011	B	.	.	1.000	N	0	N	3.32	T	-0.919	T	0.008	T	0.061	1.041	9.254	0.493	0.514	0.182	6.300	0.042	0.00104700276164	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1241200968	1.373e-06	1.368e-06	1.366e-06	1.38e-06	9.023e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.023e-07	1.664e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.23271	T	0.332	0.18449	T	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	3.32	0.06214	T	-0.19	0.09965	N	0.119	0.10911	-0.9193	0.45648	T	0.008	0.02926	T	9	0.06530404	0.08790	T	0.001047	0.01191	T	0.042	0.11227	0.093	0.01151	0.227934060464	0.22382	0.06617811075894292	0.06556	.	.	0.210635006428	0.00839	T	0.036921	0.24283	T	-0.370796	0.03554	T	-0.770399	0.02755	T	0.0498094043114612	0.05467	T	0.492651	0.15191	T	0.07411346	0.16608	0.08802469	0.20498	0.07411346	0.16608	0.08802469	0.20497	-5.685	0.43560	T	.	.	0.183	0.39714	B	.	.	0.141494	0.05351	1.837	0.68275787782793262	0.08608	0.04812	0.10535	N	AEFDBI	0.030897	0.03197	N	-1.14382275890809	0.05882	0.2693335	-1.22974974199479	0.05437	0.2590894	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	0.846000	0.27335	0.099000	0.14623	-0.342000	0.05666	0.004000	0.16614	0.001000	0.17328	0.003000	0.05239	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	304.98	170	chr8	10609951	.	C	T	304.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.704e+00;DP=4744;ExcessHet=0.0000;FS=132.899;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.02;ReadPosRankSum=1.77;SOR=7.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:206,0:206:99:.:.:0,120,1800	20	0	1	0
chr8	10610141	10610141	-	CCCTCTTCTT	exonic	RP1L1	.	frameshift insertion	RP1L1:NM_178857:exon4:c.3956_3957insAAGAAGAGGG:p.V1320Rfs*10,	Occult macular dystrophy, Autosomal dominant	.	22	1378	107	10	5	132	0.0440513	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0008	0	0	0	0.0002	0	0.0002	7.68e-05	2	26028	.	0.0015	0.0018	0.0014	0.0015	0.0036	0.0014	0.0014	0.0031	0.0029	0.0036	0.0014	0.0082	0.0007	0.0030	0.0022	0.0012	0.0027	0.0010	0.0026	0.0033	0.0025	0.0027	0.0041	0.0024	0.0023	0.0036	0.0034	0.0041	0	0.0023	0.0117	0.0006	0.0006	0.0171	0.0019	0.0024	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3228.94	398	chr8	10610141	.	C	CCCCTCTTCTT	3228.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.581e+00;DP=6806;ExcessHet=0.0000;FS=0.842;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.39;MQRankSum=-5.091e+00;QD=8.52;ReadPosRankSum=-2.980e-01;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:264,0:264:99:.:.:0,120,1800	20	0	1	0
chr8	10610764	10610764	T	C	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.A3334G:p.S1112G,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.803	P	0.249	B	0.473	N	0.646	N	0.975	L	-1.28	T	-0.680	T	0.266	T	0.271	1.933	12.42	-0.636	-0.261	2.318	5.428	0.202	0.200702849377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.84e-07	0	1.376e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.081	0.41742	T	.	.	.	.	.	.	0.473485	0.12249	N	0.675757	0.646059	0.30574	N	1.21	0.30464	L	-1.28	0.79376	T	-2.8	0.59226	D	0.186	0.20262	-0.6805	0.61349	T	0.266	0.63716	T	10	0.17602152	0.32565	T	0.200703	0.86723	D	0.202	0.48754	0.227	0.15257	0.333651784274	0.32972	0.07049533006319005	0.06986	.	.	0.361634910107	0.19624	T	0.145847	0.48317	T	-0.011829	0.50010	T	-0.254768	0.49346	T	0.56569516658783	0.35071	D	0.424958	0.11391	T	0.37306088	0.58810	0.30488464	0.56517	0.37306088	0.58811	0.30488464	0.56516	-6.371	0.49283	T	0.17892076814376026	0.22955	0.126	0.26669	B	.	.	1.772603	0.22541	15.66	0.96067778554374905	0.28614	0.93068	0.57246	D	AEFDBI	0.299041	0.40820	N	-0.466811832275271	0.23173	1.242608	-0.562203189693988	0.20482	1.103723	1.57201066507265E-4	0.05650	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.74	-0.636	0.10930	1.993000	0.40367	-0.158000	0.11351	0.651000	0.53179	1.000000	0.71638	0.777000	0.26748	0.107000	0.18608	0.0:0.1513:0.2767:0.5721	5.428	0.15738	793	0.45818	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1422.98	48	chr8	10610764	.	T	C	1422.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.648e+00;DP=1102;ExcessHet=0.0000;FS=1.386;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.95;ReadPosRankSum=-5.570e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/1:67,63:130:99:1437,0,1692	20	0	1	0
chr8	10611454	10611454	G	A	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.C2644T:p.R882W,	Occult macular dystrophy, Autosomal dominant	.	0	1505	17	0	0	17	0.00561612	.	.	307388	Occult_macular_dystrophy|not_specified|not_provided	Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.002	B	0.001	B	.	.	1.000	N	0	N	3.66	T	-0.911	T	0.006	T	0.061	3.418	17.55	-10.2	-2.316	-1.088	0.220	0.113	.	0.0027	0.000798722	0.0036	0.0004	0.0041	0	0.0015	0.0058	0.0129	0.0011	0.0020051	310	154602	rs148936402	0.0030	0.0030	0.0031	0.0030	0.0044	0.0030	0.0029	0.0031	0.0031	0.0004	0.0028	0.0130	2.647e-05	0.0002	0.0044	0.0032	0.0032	0.0012	0.0026	0.0026	0.0026	0.0026	0.0037	0.0024	0.0023	0.0033	0.0032	0.0009	0	0.0024	0.0144	0	9.406e-05	0.0204	0.0037	0.0052	0.0012	0.002	0.72154	D	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.39	0.34934	L	3.66	0.04228	T	-1.53	0.37178	N	0.091	0.06990	-0.9115	0.46670	T	0.006	0.01870	T	9	0.0049188137	0.00105	T	.	.	.	0.113	0.31778	.	.	0.12205267543	0.11705	0.1951453495505809	0.19431	.	.	0.232301712036	0.02143	T	0.064561	0.32465	T	-0.719989	0.00028	T	-0.810042	0.01664	T	0.0417623311844674	0.04011	T	0.39926	0.10144	T	0.037631847	0.04862	0.039601736	0.04092	0.037631847	0.04862	0.039601736	0.04091	-5.167	0.38604	T	0.07212204489980628	0.02931	0.140	0.30713	B	.	.	0.302575	0.06781	3.300	0.99164774652686805	0.54212	0.00425	0.02093	N	AEFDBI	0.042938	0.06725	N	-1.66765494603192	0.00963	0.04172438	-1.77872161670099	0.00830	0.03705504	0.983389003906396	0.30551	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.11	-10.2	0.00305	-0.551000	0.06117	-2.721000	0.03430	-1.378000	0.01162	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2056:0.2404:0.2206:0.3333	0.220	0.00155	792	0.45996	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	916.98	48	chr8	10611454	.	G	A	916.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=1033;ExcessHet=0.0000;FS=5.476;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.81;ReadPosRankSum=0.747;SOR=0.267	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	20	0	1	0
chr8	10622865	10622865	G	A	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon2:c.C337T:p.P113S,	Occult macular dystrophy, Autosomal dominant	.	1	1498	23	0	0	23	0.00761842	.	.	303921	not_provided|Occult_macular_dystrophy	MedGen:C3661900|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.073	B	0.045	B	.	.	1.000	N	-0.205	N	-2.17	D	-0.820	T	0.286	T	0.127	0.292	5.580	-3.47	-0.664	-0.189	3.123	0.144	.	0.0002	0.00399361	0.0026	0.0001	0.0005	0	0	0.0004	0.0081	0.0157	0.0021863	338	154602	rs201245739	0.0012	0.0012	0.0007	0.0017	0.0163	0.0011	0.0011	0.0156	0.0153	5.977e-05	0.0001	0.0011	2.52e-05	0	0.0042	0.0002	0.0013	0.0163	0.0007	0.0007	0.0006	0.0008	0.0145	0.0006	0.0006	0.0118	0.0108	7.22e-05	0	0.0005	0.0014	0	0	0	0.0003	0.0019	0.0145	0.143	0.25355	T	0.228	0.25286	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.255	0.03828	N	-2.17	0.86624	D	-2.1	0.47852	N	0.183	0.19861	-0.8200	0.53933	T	0.286	0.65744	T	9	0.00442034	0.00090	T	.	.	.	0.144	0.38394	.	.	0.254244900254	0.25046	0.18994679781171653	0.18912	.	.	0.310086578131	0.11920	T	0.136786	0.46936	T	-0.470472	0.00844	T	-0.435603	0.29302	T	0.0063750555654631	0.00071	T	0.624238	0.24084	T	0.03854926	0.05157	0.071921706	0.15456	0.03854926	0.05156	0.071921706	0.15456	-3.485	0.16223	T	0.14979248067906134	0.17545	0.091	0.12891	B	.	.	0.676226	0.10444	7.166	0.49772977628815207	0.04268	0.05439	0.11314	N	AEFDBI	0.081127	0.16412	N	-1.17843439872053	0.05326	0.2425605	-1.22491323184172	0.05512	0.262831	0.0171898468307943	0.12922	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.74	-3.47	0.04452	-0.236000	0.09019	1.009000	0.23318	0.674000	0.70861	0.000000	0.06391	0.097000	0.22620	0.104000	0.18471	0.4664:0.103:0.3164:0.1143	3.123	0.06012	778	0.48011	Doublecortin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.07143	3412.68	38	chr8	10622865	.	G	A	3412.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.94;DP=910;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=-2.280e-01;SOR=0.682	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,114,1710	18	0	3	0
chr8	10697791	10697791	G	T	exonic	C8orf74	.	nonsynonymous SNV	C8orf74:NM_001040032:exon3:c.G434T:p.C145F,	.	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.97	D	0.833	P	0.000	D	1.000	N	2.125	M	1.47	T	-1.112	T	0.004	T	0.754	2.172	13.22	4.36	1.211	2.089	10.168	0.254	.	0.0012	0.0249601	0.0147	0.0021	0.0614	0.0771	0.0218	0.0028	0.0201	0.0021	0.0135445	2094	154602	rs77073793	0.0073	0.0073	0.0075	0.0071	0.1398	0.0072	0.0071	0.1367	0.1354	0.0008	0.0555	0.0031	0.1398	0.0200	0.0019	0.0007	0.0070	0.0029	0.0093	0.0093	0.0077	0.0110	0.0797	0.0089	0.0087	0.0733	0.0708	0.0014	0	0.0378	0.0012	0.0797	0.0211	0.0034	0.0015	0.0071	0.0044	0.682	0.04404	T	0.003	0.76473	D	0.97	0.56973	D	0.833	0.59784	P	0.000001	0.62929	D	0.000000	0.897094	0.27773	N	1.995	0.54099	M	1.47	0.31987	T	-4.38	0.77143	D	0.206	0.22870	-1.1118	0.02920	T	0.004	0.01470	T	10	0.002952665	0.00048	T	.	.	.	0.254	0.56428	.	.	.	.	0.34746773949268006	0.34660	0.0944726106456	0.10668	.	.	.	0.144722	0.48148	T	-0.433531	0.01412	T	-0.251694	0.49650	T	0.064159008552507	0.07806	T	0.521348	0.16985	T	0.28695047	0.51708	0.24560565	0.50051	0.28695047	0.51708	0.24560565	0.50050	-3.089	0.11170	T	.	.	0.144	0.31832	B	.	.	3.032114	0.40618	21.2	0.98427151450099304	0.41354	0.85504	0.44643	D	AEFBI	0.178229	0.30549	N	0.172629695613506	0.49888	3.184311	0.109306233082189	0.45023	2.773	0.994067592998264	0.33472	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.24	4.36	0.51643	1.624000	0.36629	5.667000	0.49241	0.590000	0.31872	0.963000	0.33788	1.000000	0.68203	0.422000	0.27272	0.0935:0.0:0.9065:0.0	10.168	0.42066	770	0.49152	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3109.98	34	chr8	10697791	.	G	T	3109.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.337e+00;DP=960;ExcessHet=0.0000;FS=0.470;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=-2.090e-01;SOR=0.648	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1340	20	0	1	0
chr8	10726166	10726166	C	T	exonic	SOX7	.	nonsynonymous SNV	SOX7:NM_031439:exon2:c.G739A:p.A247T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.14	B	0.01	B	0.268	N	0.605	N	0.65	N	-1.21	T	-0.865	T	0.202	T	0.057	0.725	7.855	-0.796	-0.069	0.209	9.582	0.097	0.100263945403	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1417374815	1.101e-05	1.094e-05	1.094e-05	1.108e-05	0.0002	6.52e-06	5.28e-06	6.55e-06	5.04e-06	0	0	0	0	0	0.0002	1.173e-05	0	2.376e-05	6.584e-06	6.57e-06	0	1.348e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.592	0.10311	T	0.389	0.15554	T	0.006	0.13644	B	0.004	0.10090	B	0.268282	0.15178	N	0.656003	0.605207	0.30907	N	0.79	0.19579	N	-1.21	0.78645	T	-0.4	0.19297	N	0.023	0.00882	-0.8648	0.50915	T	0.202	0.55836	T	10	0.050373316	0.04761	T	0.100264	0.77244	D	0.097	0.27909	0.195	0.10705	0.660725266497	0.65788	0.21854889211614612	0.21770	0.151573696835	0.17104	0.466972649097	0.34265	T	0.052013	0.29042	T	-0.213475	0.18892	T	-0.544419	0.17865	T	0.121018186211586	0.14529	T	.	.	.	0.017927265	0.00315	0.044225063	0.05683	0.017927265	0.00315	0.044225063	0.05683	-3.658	0.18700	T	.	.	0.062	0.01215	B	.;.	.;.	0.792616	0.11628	8.217	0.91419036856322422	0.20687	0.14195	0.18273	N	AEFDBCI	0.090524	0.18343	N	-1.21211985890473	0.04823	0.2185025	-1.18241903628792	0.06202	0.2978517	0.999944909914253	0.47345	0.545045	0.22601	0	0.59043	0.45803	0	0.576033	0.28219	0	0.591603	0.36755	0	.	.	5.05	-0.796	0.10361	0.215000	0.17352	0.165000	0.15451	-1.190000	0.01375	0.035000	0.20724	0.144000	0.23118	0.031000	0.13245	0.0:0.4171:0.0:0.5829	9.582	0.38658	766	0.49742	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1466.98	64	chr8	10726166	.	C	T	1466.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.97;DP=1429;ExcessHet=0.0000;FS=1.528;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.58;ReadPosRankSum=-4.600e-02;SOR=0.859	GT:AD:DP:GQ:PL	0/0:70,0:70:99:0,120,1800	20	0	1	0
chr8	10726544	10726544	G	T	exonic	SOX7	.	nonsynonymous SNV	SOX7:NM_031439:exon2:c.C361A:p.Q121K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.998	D	0.954	D	0.000	D	1.000	D	2.395	M	-4.96	D	1.072	D	0.979	D	0.504	4.379	23.1	4.59	2.368	9.576	16.556	0.668	0.748468779946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	2.052e-06	0	1.377e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.019	0.60972	D	0.998	0.73220	D	0.954	0.69447	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.95	0.84923	M	-4.96	0.99447	D	-3.6	0.69357	D	0.48	0.54409	1.072	0.98650	D	0.979	0.99346	D	10	0.7134799	0.73195	D	0.748469	0.97992	D	0.668	0.87674	0.282	0.23801	0.976441314154	0.97618	0.4638150095076599	0.46300	0.246144050669	0.27147	0.800246238708	0.82000	T	0.481023	0.80976	T	0.277693	0.81118	D	0.16111	0.80874	D	0.990518748760223	0.80737	D	.	.	.	0.7092674	0.78567	0.49608183	0.70859	0.7092674	0.78568	0.49608183	0.70859	-11.282	0.81182	D	.	.	0.481	0.65872	A	.;.	.;.	4.950192	0.81771	27.6	0.99351555164134786	0.60615	0.98168	0.80190	D	AEFDBHCI	0.948269	0.95971	D	0.804243823803019	0.86369	8.863909	0.75886994778187	0.86819	9.012874	1.0	0.98316	0.730579	0.87903	0	0.59043	0.45803	0	0.440796	0.06475	0	0.648885	0.59868	0	.	.	4.59	4.59	0.56297	8.116000	0.89434	9.768000	0.81541	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.556	0.84334	772	0.48957	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2012.98	64	chr8	10726544	.	G	T	2012.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.693e+00;DP=1483;ExcessHet=0.0000;FS=1.305;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.79;ReadPosRankSum=-1.350e+00;SOR=0.572	GT:AD:DP:GQ:PL	0/0:70,0:70:99:0,120,1800	20	0	1	0
chr8	10765414	10765416	TTC	-	exonic	PINX1	.	nonframeshift deletion	PINX1:NM_017884:exon7:c.972_974del:p.K325del,	.	.	1	224	1	0	0	1	0.00222717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0100	0.00778754	0.0026	0.0229	0.0007	0.0001	0	0.0007	0	0.0020	0.0001153	3	26028	rs201660183	0.0007	0.0009	0.0007	0.0006	0.0166	0.0006	0.0006	0.0155	0.0150	0.0166	0.0009	7.745e-05	0.0001	0.0001	0.0010	0.0002	0.0011	0.0006	0.0048	0.0048	0.0048	0.0048	0.0163	0.0045	0.0044	0.0153	0.0149	0.0163	0	0.0016	0.0003	0.0002	0	0.0034	0.0003	0.0033	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1663.94	33	chr8	10765413	.	TTTC	T	1663.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.33;DP=784;ExcessHet=0.0000;FS=1.696;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.70;ReadPosRankSum=0.442;SOR=0.925	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1202	20	0	1	0
chr8	10826196	10826196	G	A	exonic	PINX1	.	nonsynonymous SNV	PINX1:NM_001284356:exon5:c.C350T:p.S117F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.945	M	2.57	T	1.046	D	0.985	D	0.828	4.831	27.4	5.55	2.602	6.911	17.009	0.806	0.781326311384	.	.	0.0002	0.0001	0.0001	0	0	0	0.0013	0.0012	0.0001229	19	154602	rs770567828	5.119e-05	5.404e-05	1.515e-05	8.757e-05	0.0009	4.171e-05	3.82e-05	0.0007	0.0006	0	0	0	0	0	0	0	3.346e-05	0.0009	3.941e-05	3.938e-05	0	8.06e-05	0.0012	1.715e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.003	0.72154	D	0.009	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.705	0.79137	M	-6.07	0.99513	D	-4.39	0.87380	D	0.691	0.90476	1.046	0.98037	D	0.985	0.99544	D	10	0.76367	0.76538	D	0.781326	0.98278	D	0.806	0.93699	0.391	0.41443	0.848615917597	0.84716	0.5605244538731351	0.55979	0.0029161672152	0.00252	.	.	.	0.525275	0.83472	D	0.205167	0.74375	D	0.40865	0.92391	D	0.84132444858551	0.49436	D	0.89891	0.64583	D	0.6525525	0.75500	0.43338782	0.66893	0.6525525	0.75501	0.43338782	0.66894	-12.515	0.87269	D	.	.	0.927	0.90020	P	.;.;.;.	.;.;.;.	5.373898	0.90085	31	0.99860900719891543	0.93911	0.98277	0.81186	D	AEFBI	0.751225	0.69210	D	0.917096502287606	0.92571	11.50059	0.868332468970398	0.94041	12.46084	0.999999999880276	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.55	5.55	0.83298	7.474000	0.80024	9.837000	0.81899	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	17.009	0.86275	923	0.18507	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1502.98	38	chr8	10826196	.	G	A	1502.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.420e-01;DP=1086;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.96;ReadPosRankSum=0.127;SOR=0.690	GT:AD:DP:GQ:PL	0/0:79,0:79:99:0,120,1800	20	0	1	0
chr8	11200666	11200666	G	A	exonic	XKR6	.	nonsynonymous SNV	XKR6:NM_173683:exon1:c.C674T:p.S225F,	.	.	430	1091	1	0	0	1	0.000458085	.	.	2290166	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.371	B	0.069	B	.	.	1.000	N	0.345	N	1.56	T	-1.043	T	0.038	T	0.193	-0.457	1.883	1.41	0.070	2.222	6.409	0.041	0.124884314131	.	.	5.713e-05	0	0	0	0	0.0001	0	0	3.23e-05	5	154602	rs768684995	2.624e-05	2.736e-05	2.54e-05	2.709e-05	0.0005	1.936e-05	1.69e-05	0.0001	7.79e-05	0	3.033e-05	8.471e-05	0	0	0.0005	2.463e-05	6.879e-05	0	1.319e-05	1.314e-05	1.29e-05	1.349e-05	2.414e-05	2.19e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	1.475e-05	0	0	0.032	0.47320	D	0.142	0.33330	T	0.371	0.34093	B	0.069	0.27757	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	1.56	0.29602	T	-1.59	0.39314	N	0.197	0.21710	-1.0431	0.16383	T	0.038	0.16246	T	9	0.104088396	0.19170	T	0.124884	0.80631	D	0.041	0.10877	0.551	0.66716	0.043077524339	0.03247	0.20350435369877454	0.20267	1.31395625431	0.83289	0.878859758377	0.93806	D	0.069146	0.33636	T	-0.34681	0.04930	T	-0.550673	0.17261	T	0.0304294714731869	0.02057	T	0.450355	0.12714	T	0.112717144	0.26627	0.16106607	0.37483	0.112717144	0.26627	0.16106607	0.37482	-5.351	0.40445	T	.	.	0.170	0.51840	B	.;.	.;.	2.004462	0.25467	16.77	0.94765539852049929	0.25480	0.15796	0.19085	N	AEFDGBHCI	0.059770	0.11313	N	-0.719260395201778	0.15481	0.7805478	-0.753189210635352	0.15644	0.8238009	0.999999786126535	0.74766	0.455138	0.09556	0	0.484254	0.07192	0	0.519653	0.09787	0	0.56751	0.32155	0	.	.	3.28	1.41	0.21461	1.935000	0.39802	.	.	0.484000	0.22197	0.018000	0.19461	0.978000	0.30204	0.185000	0.21450	0.3394:0.0:0.6606:0.0	6.409	0.20883	735	0.53711	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1001.98	33	chr8	11200666	.	G	A	1001.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.99;DP=769;ExcessHet=0.0000;FS=2.174;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.16;ReadPosRankSum=-1.910e-01;SOR=1.040	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1147	20	0	1	0
chr8	11546092	11546092	A	G	exonic	BLK	.	nonsynonymous SNV	BLK:NM_001715:exon3:c.A164G:p.H55R,	Maturity-onset diabetes of the young, type 11, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	610600	Maturity-onset_diabetes_of_the_young_type_11|Systemic_lupus_erythematosus	MONDO:MONDO:0013242,MedGen:C3150618,OMIM:613375,Orphanet:552|Human_Phenotype_Ontology:HP:0002725,MONDO:MONDO:0007915,MedGen:C0024141,OMIM:152700,Orphanet:536	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.0	B	0.301	N	1.000	N	0	N	1.0	T	-1.072	T	0.043	T	0.134	0.212	5.141	-2.6	-0.309	-0.039	0.902	0.019	0.00243323065972	.	.	4.119e-05	0	0	0	0	7.493e-05	0	0	3.23e-05	5	154602	rs202053568	3.42e-05	3.42e-05	2.995e-05	3.85e-05	0.0002	2.631e-05	2.375e-05	2.54e-05	2.224e-05	0	2.236e-05	0	0	0.0002	0.0002	3.417e-05	1.656e-05	0	1.315e-05	1.313e-05	1.285e-05	1.346e-05	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.494	0.07895	T	0.507	0.10930	T	0.0	0.02946	B	0.0	0.01387	B	0.301129	0.03955	N	1.602340	1	0.19694	N	0.55	0.14455	N	1.0	0.41392	T	-0.52	0.16187	N	0.226	0.25377	-1.0720	0.08979	T	0.043	0.18326	T	10	0.05562961	0.06110	T	0.002433	0.04785	T	0.019	0.03383	0.303	0.27164	0.472023113445	0.46832	0.2165137397879861	0.21567	0.0236920718998	0.02399	0.345870435238	0.17312	T	0.052533	0.29189	T	-0.425803	0.01572	T	-0.669117	0.07665	T	0.0454574823379517	0.04684	T	0.160084	0.01443	T	0.024685958	0.01325	0.02701039	0.00824	0.021990204	0.00833	0.03400187	0.02390	-3.379	0.14775	T	.	.	0.062	0.01271	B	.	.	-0.110003	0.03584	0.697	0.46817775251444316	0.03779	0.01499	0.04968	N	AEFDGBHCI	0.052696	0.09431	N	-1.2781895605162	0.03939	0.1768893	-1.3038676920473	0.04380	0.2064656	0.999999999996906	0.74766	0.525926	0.21836	0	0.52208	0.09955	0	0.615948	0.41167	0	0.631631	0.49550	0	.	.	4.6	-2.6	0.05830	0.033000	0.13642	.	.	-0.100000	0.15956	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.41:0.1467:0.2788:0.1645	0.902	0.01196	913	0.21160	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	686.98	34	chr8	11546092	.	A	G	686.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.840e-01;DP=783;ExcessHet=0.0000;FS=2.810;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.47;ReadPosRankSum=1.07;SOR=0.551	GT:AD:DP:GQ:PL	0/1:57,35:92:99:701,0,1391	20	0	1	0
chr8	11761832	11761832	G	T	exonic	C8orf49	.	nonsynonymous SNV	C8orf49:NM_001031839:exon1:c.G419T:p.C140F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.991	D	0.632	P	.	.	1.000	N	.	.	1.52	T	-1.043	T	0.089	T	0.304	2.019	12.71	1.4	0.514	0.246	6.81	0.075	0.000794454176548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	79.21	2	chr8	11761832	.	G	T	79.21	.	AC=2;AF=0.077;AN=26;DP=81;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.1917;MLEAC=2;MLEAF=0.077;MQ=60.00;QD=28.43;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1,0:1:3:.:.:0,3,26	12	1	0	8
chr8	11779923	11779923	G	T	exonic	NEIL2	.	nonsynonymous SNV	NEIL2:NM_001135747:exon2:c.G281T:p.R94M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.999	D	0.964	D	0.005	N	1.000	D	2.215	M	3.25	T	-0.921	T	0.081	T	0.641	2.456	14.17	2.9	0.692	1.911	10.758	0.212	0.0237089064131	.	0.000199681	8.271e-06	9.696e-05	0	0	0	0	0	0	1.29e-05	2	154602	rs563813073	4.105e-06	4.104e-06	2.723e-06	5.5e-06	2.987e-05	1.48e-06	9.7e-07	1.32e-06	9.6e-07	2.987e-05	0	0	0	0	0	4.497e-06	0	0	6.567e-06	6.561e-06	0	1.343e-05	2.406e-05	0	0	.	.	2.406e-05	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.01	0.66756	D	0.999	0.77913	D	0.964	0.71005	D	0.005207	0.32996	N	0.341091	0.692273	0.81001	D	1.73	0.44655	L	2.54	0.13916	T	-2.17	0.49018	N	0.603	0.62950	-0.9215	0.45348	T	0.081	0.32060	T	10	0.4980644	0.61384	T	0.023709	0.46682	T	0.212	0.50341	0.483	0.56462	0.44143026662	0.43763	0.5045281640101561	0.50374	0.0156104378434	0.01492	0.481372654438	0.36245	T	0.114375	0.43213	T	-0.195973	0.21387	T	-0.33775	0.40600	T	0.618911981582642	0.37161	D	0.746125	0.36682	T	0.1048491	0.24787	0.12732084	0.30651	0.1048491	0.24787	0.12732084	0.30651	-6.397	0.54209	T	.	.	0.333	0.60878	B	.;.;.;.	.;.;.;.	3.111276	0.41967	21.5	0.95810733170794282	0.27883	0.87162	0.46619	D	AEFBI	0.274919	0.39000	N	0.141664927228736	0.48418	3.054301	0.0312110621638671	0.41171	2.469162	0.975467426589583	0.29635	0.626454	0.40138	0	0.633656	0.55848	0	0.80507	0.99327	0	0.635551	0.53088	0	.	.	4.72	2.9	0.32809	2.026000	0.40689	.	.	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.187000	0.21511	0.1575:0.0:0.8425:0.0	10.758	0.45447	958	0.09170	Formamidopyrimidine-DNA glycosylase, catalytic domain;Formamidopyrimidine-DNA glycosylase, catalytic domain;.;Formamidopyrimidine-DNA glycosylase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	666.98	34	chr8	11779923	.	G	T	666.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.520e-01;DP=769;ExcessHet=0.0000;FS=3.536;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.95;ReadPosRankSum=-8.700e-01;SOR=0.352	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1152	20	0	1	0
chr8	11786184	11786184	C	A	exonic	NEIL2	.	nonsynonymous SNV	NEIL2:NM_001135747:exon4:c.C727A:p.P243T	.	.	415	1099	7	1	0	9	0.00407793	.	.	736407	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.999	D	0.000	D	1.000	D	2.24	M	1.92	T	-0.902	T	0.134	T	0.823	2.909	15.69	5.34	2.653	2.417	18.409	0.246	.	0.0016	0.00878594	0.0045	0.0049	0.0002	0.0129	0	9.231e-05	0.0046	0.0219	0.0039068	604	154602	rs8191666	0.0018	0.0018	0.0013	0.0023	0.0205	0.0017	0.0017	0.0197	0.0194	0.0030	6.709e-05	0.0010	0.0128	0	0.0002	1.529e-05	0.0023	0.0205	0.0021	0.0021	0.0017	0.0024	0.0203	0.0019	0.0018	0.0170	0.0158	0.0036	0	0.0001	0.0012	0.0116	0	0	2.94e-05	0.0019	0.0203	0.058	0.91255	T	0.039	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.050375	0.999804	0.50595	D	2.195	0.61839	M	1.92	0.23082	T	-3.53	0.70191	D	0.483	0.64818	-0.9019	0.47792	T	0.134	0.44700	T	10	0.0038172305	0.00072	T	.	.	.	0.246	0.55340	.	.	0.514530392947	0.51094	0.34968417371851507	0.34882	0.0158059045702	0.01510	0.342129707336	0.16758	T	0.066811	0.33041	T	-0.235692	0.15904	T	-0.0944119	0.63826	T	0.0333881853383401	0.02536	T	0.794321	0.43637	T	0.307088	0.53532	0.20098297	0.44057	0.307088	0.53532	0.20098297	0.44056	-9.408	0.74288	D	.	.	0.141	0.37895	B	.;.;.;.;.	.;.;.;.;.	3.230348	0.44050	21.9	0.99696037161289086	0.80248	0.93014	0.57109	D	AEFBI	0.308781	0.41527	N	0.536013517270405	0.69235	5.328236	0.455326558986163	0.65059	4.776159	0.999999838526092	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.34	5.34	0.75982	2.477000	0.44839	.	.	0.599000	0.40250	0.979000	0.35152	1.000000	0.68203	0.054000	0.15518	0.0:1.0:0.0:0.0	18.409	0.90487	958	0.09170	Zinc finger, DNA glycosylase/AP lyase-type;Zinc finger, DNA glycosylase/AP lyase-type;.;.;Zinc finger, DNA glycosylase/AP lyase-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2045.98	74	chr8	11786184	.	C	A	2045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.290e-01;DP=1306;ExcessHet=0.0000;FS=5.392;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.94;ReadPosRankSum=-1.325e+00;SOR=1.075	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr8	11786187	11786187	G	A	exonic	NEIL2	.	nonsynonymous SNV	NEIL2:NM_001135747:exon4:c.G730A:p.E244K	.	.	415	1098	9	0	0	9	0.00408163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.103	B	0.017	B	0.000	D	1.000	N	0.345	N	1.8	T	-1.002	T	0.031	T	0.241	0.895	8.638	3.5	0.708	0.815	10.376	0.058	0.00696792001523	0.0008	0.000399361	0.0013	0.0001	0.0010	0	0.0002	0.0011	0.0035	0.0038	0.0010608	164	154602	rs139505292	0.0007	0.0007	0.0006	0.0008	0.0034	0.0007	0.0006	0.0031	0.0030	0	0.0006	0.0064	2.519e-05	0.0003	0.0034	0.0004	0.0012	0.0034	0.0005	0.0005	0.0005	0.0006	0.0031	0.0004	0.0004	0.0019	0.0015	2.406e-05	0	0.0003	0.0049	0.0002	9.422e-05	0.0034	0.0005	0.0014	0.0031	0.131	0.43708	T	0.329	0.18617	T	0.005	0.12996	B	0.0	0.01387	B	0.000209	0.47681	D	0.222920	1	0.08975	N	0	0.06538	N	1.8	0.25344	T	-0.05	0.08340	N	0.133	0.12913	-1.0023	0.29255	T	0.031	0.13242	T	10	0.0040971935	0.00080	T	0.006968	0.18458	T	0.058	0.16647	.	.	0.300110245524	0.29617	0.34754261260705704	0.34668	0.00381862230629	0.00329	0.30558231473	0.11240	T	0.003488	0.02899	T	-0.550869	0.00288	T	-0.565218	0.15890	T	0.0106757450994716	0.00150	T	0.561144	0.25234	T	0.03756154	0.04840	0.044500418	0.05777	0.03756154	0.04840	0.044500418	0.05777	-5.355	0.41044	T	.	.	0.057	0.01161	B	.;.;.;.;.	.;.;.;.;.	1.644389	0.20984	15.00	0.97347658185118491	0.33505	0.05165	0.10981	N	AEFBI	0.057606	0.10746	N	-1.08473695114724	0.06924	0.3201329	-1.03178697427135	0.09090	0.4503541	0.965819103094218	0.28858	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.34	3.5	0.39181	0.850000	0.27389	.	.	-0.172000	0.11096	0.001000	0.13787	0.013000	0.20296	0.002000	0.04165	0.0:0.6742:0.2549:0.0709	10.376	0.43265	958	0.09170	Zinc finger, DNA glycosylase/AP lyase-type;Zinc finger, DNA glycosylase/AP lyase-type;.;.;Zinc finger, DNA glycosylase/AP lyase-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2987.98	74	chr8	11786187	.	G	A	2987.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.300e-01;DP=1360;ExcessHet=0.0000;FS=2.665;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.15;ReadPosRankSum=0.702;SOR=0.516	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr8	11838472	11838472	A	G	exonic	FDFT1	.	nonsynonymous SNV	FDFT1:NM_001287756:exon5:c.A616G:p.N206D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.0	B	0.001	B	0.865	N	1.000	N	0	N	1.57	T	-1.019	T	0.060	T	0.044	1.289	10.22	3.12	0.532	1.159	8.013	0.025	0.00642284844805	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1373133591	6.875e-07	6.84e-07	0	1.384e-06	9.028e-07	0	0	.	.	0	0	0	0	0	0	9.028e-07	0	0	6.574e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.14	0.25664	T	0.455	0.13673	T	0.0	0.02946	B	0.0	0.01387	B	0.865157	0.07140	N	1.052520	0.999997	0.18878	N	0.345	0.11182	N	1.57	0.41750	T	-0.34	0.17417	N	0.075	0.10626	-1.0193	0.23943	T	0.060	0.25163	T	10	0.048363864	0.04276	T	0.006423	0.16899	T	0.025	0.05312	0.247	0.18293	0.144782658237	0.14088	0.2333710558690042	0.23252	.	.	0.281569838524	0.07712	T	0.185689	0.53874	T	-0.342449	0.05221	T	-0.729681	0.04342	T	0.0310740702048689	0.02158	T	0.678032	0.28700	T	0.059218846	0.12008	0.051983092	0.08476	0.059218846	0.12007	0.051983092	0.08475	-3.271	0.15835	T	.	.	0.063	0.01884	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	1.837901	0.23349	15.98	0.96820111452851043	0.31221	0.39731	0.26278	N	AEFBHCI	0.432608	0.49441	N	-0.992421475490481	0.08764	0.4122215	-0.906247847177337	0.11947	0.6117188	0.999918202002774	0.45857	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.46	3.12	0.34986	0.617000	0.24053	.	.	-0.122000	0.13826	0.004000	0.16614	0.998000	0.33993	0.848000	0.40082	0.6939:0.0:0.3061:0.0	8.013	0.29526	970	0.06235	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	10864.08	35	chr8	11838472	.	A	G	10864.08	.	AC=2;AF=0.048;AN=42;DP=1161;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.36;SOR=0.932	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1358	20	1	0	0
chr8	12132477	12132477	G	T	exonic	USP17L7	.	nonsynonymous SNV	USP17L7:NM_001256869:exon1:c.C1533A:p.S511R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.983e-06	6.815e-06	0	1.439e-05	.	0	0	.	.	0	0	0	0	0	0	0.0037	0	0	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.625	0.02162	N	.	.	.	.	.	.	0.008	0.00068	.	.	.	.	.	.	.	0.047372073	0.04046	T	.	.	.	.	.	.	.	0.0846915920261	0.08053	0.010131033320863203	0.00975	.	.	.	.	.	0.002036	0.01442	T	-0.187538	0.22619	T	-0.507162	0.21608	T	.	.	.	0.355564	0.08068	T	0.11543607	0.27239	0.17870107	0.40556	0.11543607	0.27239	0.17870107	0.40555	-3.872	0.21884	T	.	.	0.067	0.02548	B	.	.	-0.194523	0.03119	0.497	0.36041249771526462	0.02296	0.00043	0.00351	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00225409001432214	0.09270	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0480595	0.07371	.	.	.	-0.856000	0.04398	-7.260000	0.01195	-0.509000	0.05002	0.013000	0.18845	0.000000	0.08366	0.001000	0.02609	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07895	5082.65	400	chr8	12132477	.	G	C,T	5082.65	.	AC=1,2;AF=0.026,0.053;AN=38;BaseQRankSum=2.69;DP=2032;ExcessHet=0.0000;FS=0.557;InbreedingCoeff=0.6381;MLEAC=1,2;MLEAF=0.026,0.053;MQ=58.65;MQRankSum=-1.345e+01;QD=9.72;ReadPosRankSum=-7.390e-01;SOR=0.605	GT:AD:DP:GQ:PL	0/0:68,0,0:68:99:0,120,1800,120,1800,1800	17	0	1	2
chr8	12132683	12132683	G	C	exonic	USP17L7	.	nonsynonymous SNV	USP17L7:NM_001256869:exon1:c.C1327G:p.Q443E,	.	.	502	1015	4	1	0	6	0.00294695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.289e-06	0	0	0	0	1.664e-05	0	0	3.84e-05	1	26028	rs756462032	6.861e-05	0.0010	3.976e-05	9.784e-05	0.0008	5.741e-05	5.335e-05	0.0007	0.0006	0.0001	4.638e-05	0	8.707e-05	0.0001	0	1.583e-05	1.737e-05	0.0008	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.344	0.17804	T	.	.	.	.	.	.	.	.	.	.	.	.	.	2.305	0.65957	M	.	.	.	.	.	.	0.175	0.18784	.	.	.	.	.	.	.	0.13610211	0.25895	T	.	.	.	.	.	.	.	0.0986583533028	0.09354	0.01828315521831455	0.01782	.	.	.	.	.	0.016376	0.13546	T	-0.0604509	0.42838	T	-0.32461	0.42067	T	.	.	.	0.667933	0.27701	T	0.30113333	0.53006	0.3827617	0.63255	0.30113333	0.53006	0.3827617	0.63255	-2.88	0.08945	T	.	.	0.072	0.04119	B	.	.	1.284528	0.16845	12.80	0.35643223090398568	0.02248	0.07122	0.13148	N	AEFBI	.	.	.	.	.	.	.	.	.	4.22671077845571E-5	0.03989	0.080785	0.02172	0	0.096583	0.02683	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0474583	0.06657	.	.	.	1.181000	0.31626	-1.223000	0.05981	0.432000	0.20950	0.997000	0.40164	0.000000	0.08366	0.018000	0.11154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	70.7	557	chr8	12132683	.	G	C	70.7	.	AC=2;AF=0.050;AN=40;DP=2524;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.8832;MLEAC=1;MLEAF=0.025;MQ=46.50;QD=26.29;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:68,0:68:99:.:.:0,120,1800	19	1	0	1
chr8	12132989	12132989	C	T	exonic	USP17L7	.	nonsynonymous SNV	USP17L7:NM_001256869:exon1:c.G1021A:p.A341T,	.	.	505	973	33	11	0	55	0.0274863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0133786	0.0121	0.0010	0.0017	0	0.0112	0.0063	0.0079	0.0558	0.009159	1416	154602	rs201299300	0.0079	0.0085	0.0063	0.0094	0.0534	0.0077	0.0077	0.0520	0.0514	0.0007	0.0018	0.0024	2.921e-05	0.0086	0.0128	0.0054	0.0073	0.0534	0.0052	0.0057	0.0047	0.0057	0.0546	0.0049	0.0048	0.0487	0.0464	0.0009	0	0.0020	0.0027	0.0002	0.0051	0	0.0061	0.0050	0.0546	.	.	.	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1.905	0.50856	L	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	0.0023397803	0.00034	T	.	.	.	.	.	.	.	.	.	0.01632502428590783	0.01588	.	.	.	.	.	0.019464	0.15501	T	-0.306848	0.08028	T	-0.340151	0.40328	T	.	.	.	0.913609	0.69252	D	0.047589988	0.08158	0.19894652	0.43753	0.047589988	0.08157	0.19894652	0.43752	-5.526	0.42110	T	.	.	0.092	0.13644	B	.	.	2.654871	0.34573	19.66	0.78869533038067552	0.12488	0.68074	0.33666	D	AEFBI	.	.	.	.	.	.	.	.	.	0.00569468909275353	0.11016	0.080785	0.02172	0	0.096583	0.02683	0	0.060301	0.00762	0	0.057018	0.00518	0	0.603394	0.40870	.	.	.	3.496000	0.53050	-1.200000	0.06044	0.396000	0.20521	0.997000	0.40164	0.000000	0.08366	0.283000	0.24091	0.0:0.9992:0.0:8.0E-4	5.905	0.18235	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02632	2503.71	581	chr8	12132989	.	C	T	2503.71	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-9.610e-01;DP=4921;ExcessHet=0.0000;FS=0.627;InbreedingCoeff=-0.0270;MLEAC=1;MLEAF=0.026;MQ=51.57;MQRankSum=-2.778e+00;QD=4.46;ReadPosRankSum=1.53;SOR=0.659	GT:AD:DP:GQ:PL	0/0:242,0:242:99:0,120,1800	18	0	1	2
chr8	12137613	12137613	T	C	exonic	USP17L2	.	nonsynonymous SNV	USP17L2:NM_201402:exon1:c.A1148G:p.E383G,	.	.	519	999	3	1	0	5	0.00249626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.0	B	0.002	B	1.000	N	1.000	N	0.69	N	0.83	T	-1.024	T	0.072	T	0.054	-0.719	0.912	-0.448	-0.093	-0.100	3.531	0.012	.	0.0002	0.00958466	0.0046	0	0.0001	0	0	7.024e-05	0.0064	0.0333	0.0036028	557	154602	rs371850474	0.0018	0.0018	0.0011	0.0026	0.0301	0.0017	0.0017	0.0291	0.0287	0	7.144e-05	0	2.944e-05	0	0.0018	5.801e-05	0.0016	0.0301	0.0010	0.0012	0.0006	0.0014	0.0322	0.0008	0.0008	0.0276	0.0259	2.681e-05	0	0	0	0.0002	0	0	4.626e-05	0.0010	0.0322	0.386	0.10980	T	0.472	0.12176	T	0.0	0.02946	B	0.002	0.06944	B	1.000000	0.07966	N	1.000120	1	0.08975	N	-1.055	0.01063	N	0.83	0.47815	T	0.94	0.01529	N	0.054	0.02559	-1.0244	0.22279	T	0.072	0.29323	T	10	0.0029718876	0.00048	T	.	.	.	0.012	0.01476	.	.	0.158396225186	0.15383	0.01966341223153747	0.01919	0.435248957395	0.43639	0.505769491196	0.39631	T	0.001295	0.00775	T	-0.502793	0.00551	T	-0.763701	0.02981	T	0.029006837565582	0.01838	T	0.485151	0.14792	T	0.023289273	0.01056	0.029069202	0.01206	0.023289273	0.01055	0.029069202	0.01206	-4.845	0.35111	T	.	.	0.062	0.01309	B	.	.	0.087509	0.04920	1.497	0.61411669328605423	0.06702	0.00281	0.01517	N	AEFBI	0.033105	0.03865	N	-1.32575307692794	0.03383	0.1510339	-1.42728464016269	0.02982	0.1382511	1.68199652344649E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.935	-0.448	0.11620	-0.569000	0.05993	-2.674000	0.03481	0.299000	0.18918	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.645:0.0:0.355	3.531	0.07333	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.05556	8825.38	464	chr8	12137613	.	T	C	8825.38	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-2.074e+00;DP=5093;ExcessHet=0.0000;FS=6.561;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.056;MQ=50.54;MQRankSum=-1.391e+00;QD=32.21;ReadPosRankSum=-2.550e-01;SOR=0.345	GT:AD:DP:GQ:PL	0/0:239,0:239:99:0,120,1800	17	1	0	3
chr8	12138430	12138430	G	A	exonic	USP17L2	.	nonsynonymous SNV	USP17L2:NM_201402:exon1:c.C331T:p.R111W,	.	.	577	940	4	1	0	6	0.00318134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.716	P	0.49	P	0.302	N	0.990	N	1.27	L	1.48	T	-0.994	T	0.063	T	0.14	1.106	9.510	-1.49	-2.661	-0.082	3.562	0.071	.	0.0005	0.0115815	0.0068	0.0014	0.0006	0.0029	0	0.0001	0.0086	0.0423	0.0040103	620	154602	rs376720096	0.0020	0.0021	0.0012	0.0029	0.0322	0.0020	0.0020	0.0311	0.0307	0.0016	0.0002	0	0.0007	0	0.0018	9.422e-05	0.0022	0.0322	0.0011	0.0013	0.0006	0.0016	0.0351	0.0010	0.0009	0.0304	0.0286	0.0001	0	7.2e-05	0	0.0009	0	0	7.696e-05	0.0005	0.0351	0.003	0.68238	D	0.004	0.74150	D	0.716	0.42206	P	0.49	0.47330	P	0.302113	0.14580	N	0.592670	0.990055	0.24220	N	1.855	0.49169	L	1.48	0.31731	T	-2.45	0.53577	N	0.153	0.15749	-0.9941	0.31538	T	0.063	0.26279	T	10	0.0033101737	0.00057	T	.	.	.	0.071	0.20720	.	.	0.0986583533028	0.09354	0.05734998255072223	0.05675	0.944348631935	0.72353	0.430430352688	0.29267	T	0.007141	0.06556	T	-0.613012	0.00121	T	-0.628951	0.10493	T	0.0550535280420328	0.06366	T	0.763624	0.39028	T	0.11419236	0.26961	0.105558924	0.25378	0.11419236	0.26960	0.105558924	0.25377	-6.458	0.49961	T	.	.	0.108	0.20430	B	.	.	2.238433	0.28578	17.84	0.89056798902178669	0.18475	0.01262	0.04427	N	AEFBI	0.072963	0.14580	N	-1.50763245998338	0.01799	0.07884297	-1.75157275884775	0.00927	0.04149092	2.11194473648555E-6	0.01202	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.745	-1.49	0.08259	-1.297000	0.02867	-0.329000	0.09904	-0.756000	0.03544	0.000000	0.06391	0.000000	0.08366	0.044000	0.14658	0.36:0.209:0.431:0.0	3.562	0.07436	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.05263	12855.56	315	chr8	12138430	.	G	A	12855.56	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.26;DP=4620;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.053;MQ=44.63;MQRankSum=0.580;QD=31.36;ReadPosRankSum=1.20;SOR=0.743	GT:AD:DP:GQ:PL	0/0:105,0:105:99:0,120,1800	18	1	0	2
chr8	12138525	12138525	C	T	exonic	USP17L2	.	nonsynonymous SNV	USP17L2:NM_201402:exon1:c.G236A:p.G79E,	.	.	591	913	16	2	0	20	0.0108342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.995	D	0.000	D	0.999	D	3.665	H	3.44	T	-1.047	T	0.072	T	0.418	2.819	15.39	0.745	0.733	4.998	7.438	0.144	0.00171972351428	.	.	7.753e-05	0.0001	0	0.0001	0	6.827e-05	0	0.0001	4.53e-05	7	154602	rs201032518	0.0018	0.0063	0.0014	0.0023	0.0128	0.0018	0.0017	0.0121	0.0118	0.0004	0.0018	0.0003	0.0042	0.0027	0.0010	0.0010	0.0017	0.0128	0.0009	0.0036	0.0007	0.0011	0.0069	0.0008	0.0007	0.0048	0.0041	0.0001	0	0.0011	0	0.0019	0.0014	0	0.0009	0	0.0069	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.995	0.83170	D	0.000001	0.84330	D	0.000000	0.998806	0.45475	D	3.69	0.94526	H	3.44	0.05375	T	-6.93	0.93404	D	0.605	0.62273	-1.0473	0.15159	T	0.072	0.29387	T	10	0.46278515	0.59387	T	0.00172	0.02882	T	0.144	0.38394	.	.	0.643127189037	0.64018	0.09958374844969137	0.09889	1.3443435746	0.83939	0.582196474075	0.50394	T	0.111641	0.42729	T	-0.0818442	0.39416	T	-0.35534	0.38590	T	0.790776968002319	0.45741	D	0.860314	0.55333	D	0.7436556	0.80502	0.470007	0.69265	0.7436556	0.80503	0.470007	0.69265	-10.699	0.77981	D	.	.	0.614	0.69452	P	.	.	3.342615	0.46062	22.2	0.99199783208081638	0.55231	0.64391	0.32392	D	AEFBI	0.371542	0.45751	N	0.204690972063235	0.51425	3.32394	-0.135026311921286	0.33990	1.950213	0.00691229304308845	0.11340	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.745	0.745	0.17509	5.734000	0.68224	2.400000	0.32587	0.281000	0.18624	0.998000	0.41325	0.013000	0.20296	0.201000	0.21925	0.0:0.9999:0.0:1.0E-4	7.438	0.26336	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05263	640.56	315	chr8	12138525	.	C	T	640.56	.	AC=2;AF=0.053;AN=38;DP=4320;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.053;MQ=35.33;QD=27.85;SOR=2.400	GT:AD:DP:GQ:PL	0/0:105,0:105:99:0,120,1800	18	1	0	2
chr8	12138627	12138627	G	C	exonic	USP17L2	.	nonsynonymous SNV	USP17L2:NM_201402:exon1:c.C134G:p.S45C,	.	.	601	917	1	3	0	7	0.00380228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.001	B	0.001	B	0.056	U	0.999	N	0.975	L	2.64	T	-1.004	T	0.028	T	0.131	-0.268	2.716	-0.721	-0.387	2.649	4.607	0.066	0.000975625068894	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs199901434	1.727e-05	0.0002	1.859e-05	1.593e-05	0.0001	1.168e-05	9.82e-06	6.922e-05	5.249e-05	0	7.134e-05	0	5.853e-05	0	0	8.416e-06	0	0.0001	2.137e-05	9.005e-05	1.384e-05	2.935e-05	0.0005	5.68e-06	2.58e-06	8.754e-05	3.635e-05	0	0	0	0	0.0002	0	0	0	0	0.0005	0.157	0.23997	T	0.042	0.50226	D	0.001	0.07471	B	0.001	0.04355	B	0.055540	0.02074	U	2.990610	0.998637	0.22022	N	1.895	0.50365	L	2.64	0.12780	T	-1.95	0.45222	N	0.144	0.14480	-1.0036	0.28874	T	0.028	0.11838	T	10	0.05215311	0.05204	T	9.76E-4	0.01003	T	0.066	0.19193	.	.	0.128392430309	0.12331	0.05070450822079805	0.05012	0.359294339257	0.37621	0.531036317348	0.43181	T	0.052921	0.29299	T	-0.417426	0.01777	T	-0.727322	0.04450	T	0.0547577901069543	0.06318	T	0.493751	0.15260	T	0.07283016	0.16230	0.06926027	0.14571	0.07283016	0.16230	0.06926027	0.14571	-5.134	0.38263	T	.	.	0.080	0.07745	B	.	.	1.310339	0.17132	12.98	0.54012283306808984	0.05053	0.42314	0.26850	N	AEFBI	0.110943	0.21982	N	-1.08070947126232	0.06998	0.3238416	-1.16528096627695	0.06497	0.3129692	3.30896714387356E-6	0.01202	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.36	-0.721	0.10625	-0.231000	0.09081	-0.016000	0.12991	0.314000	0.19222	0.003000	0.16062	0.000000	0.08366	0.019000	0.11356	0.3032:0.0:0.6968:0.0	4.607	0.11770	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05263	30.11	315	chr8	12138627	.	G	C	30.11	.	AC=2;AF=0.053;AN=38;DP=4893;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.8829;MLEAC=1;MLEAF=0.026;MQ=26.00;QD=15.05;SOR=0.693	GT:AD:DP:GQ:PL	0/0:361,0:361:99:0,120,1800	18	1	0	2
chr8	12186441	12186441	C	0	exonic	FAM86B1	.	.	.	.	.	506	833	66	2	115	185	0.0403226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	1276.77	130	chr8	12186441	.	C	G,*	1276.77	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=-6.950e-01;DP=1097;ExcessHet=1.1607;FS=1.769;InbreedingCoeff=-0.1451;MLEAC=3,2;MLEAF=0.071,0.048;MQ=38.36;MQRankSum=-2.685e+00;QD=2.30;ReadPosRankSum=-9.370e-01;SOR=0.974	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,17,0:71:99:0|1:12186399_A_G:533,0,2147,696,2198,2894:12186399	16	0	3	0
chr8	12427804	12427804	C	A	exonic	FAM86B2	.	nonsynonymous SNV	FAM86B2:NM_001137610:exon7:c.G745T:p.V249L,	.	.	797	717	1	1	6	9	0.00208768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.555	P	0.377	B	.	.	1.000	N	2.09	M	3.25	T	-1.014	T	0.102	T	0.132	2.006	12.67	0.858	0.071	2.994	7.620	0.113	0.00875245919152	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs199941264	0.0008	0.0015	0.0008	0.0007	0.0051	0.0007	0.0007	0.0030	0.0024	0.0032	0.0007	0.0007	0	8.246e-05	0.0051	0.0008	0.0009	0.0001	0.0012	0.0018	0.0013	0.0010	0.0027	0.0010	0.0009	0.0020	0.0018	0.0027	0	0.0002	0	0	0	0	0.0008	0.0015	0	0.189	0.21224	T	0.0	0.92824	D	0.555	0.38231	P	0.377	0.43762	B	.	.	.	.	0.999574	0.47641	D	2.475	0.71894	M	3.25	0.06762	T	-1.95	0.46673	N	0.408	0.45142	-1.0145	0.25497	T	0.102	0.37768	T	9	0.079677016	0.13462	T	0.008752	0.23099	T	0.158	0.41098	0.621	0.75576	0.0675242888579	0.06100	0.6614795219346827	0.66084	1.73176580355	0.90739	0.843754291534	0.88667	D	0.028576	0.62873	T	-0.125275	0.32265	T	-0.417726	0.31336	T	0.0345308889768642	0.02728	T	0.761924	0.41876	T	0.2186296	0.44376	0.17977858	0.40734	0.2186296	0.44376	0.17977858	0.40733	-10.047	0.74193	D	.	.	0.245	0.53793	B	.;.;.	.;.;.	3.091116	0.41625	21.4	0.94844695629382969	0.25639	0.67833	0.33577	D	AEFI	0.379790	0.46267	N	-0.864807060438823	0.11688	0.5653925	-0.991297410807701	0.09980	0.4997946	6.47254099809772E-6	0.01202	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	1.82	0.858	0.18168	3.024000	0.49358	4.819000	0.45103	-2.128000	0.00382	1.000000	0.71638	1.000000	0.68203	0.007000	0.07825	0.2554:0.7445:0.0:0.0	7.620	0.27349	976	0.04745	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.03333	98.86	14	chr8	12427804	.	C	A	98.86	.	AC=1;AF=0.033;AN=30;BaseQRankSum=1.93;DP=266;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0450;MLEAC=1;MLEAF=0.033;MQ=38.28;MQRankSum=-1.430e-01;QD=3.41;ReadPosRankSum=-1.239e+00;SOR=0.641	GT:AD:DP:GQ:PL	./.	14	0	1	6
chr8	12436289	12436289	G	C	exonic	FAM86B2	.	nonsynonymous SNV	FAM86B2:NM_001137610:exon1:c.C55G:p.R19G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.001	B	0.006	B	0.160	U	1.000	N	2.075	M	1.71	T	-0.989	T	0.067	T	0.479	1.813	12.02	1.05	0.878	0.590	5.499	0.171	.	.	.	0.0014	0.0128	0	0	.	0	0	0	3.84e-05	1	26028	rs766855558	0.0002	0.0003	0.0003	0.0002	0.0083	0.0002	0.0002	0.0074	0.0071	0.0083	0.0005	0	0	0	0.0003	5.296e-06	0.0006	0	0.0021	0.0029	0.0024	0.0018	0.0075	0.0019	0.0018	0.0068	0.0065	0.0075	0	0.0007	0	0	0	0	2.98e-05	0.0010	0	0.094	0.37966	T	0.243	0.26969	T	0.001	0.07471	B	0.006	0.12133	B	0.159540	0.03027	U	2.573600	0.660042	0.81001	D	2.325	0.66631	M	1.71	0.26737	T	-2.73	0.65512	D	0.187	0.20395	-0.9890	0.32853	T	0.067	0.27674	T	10	0.010516614	0.00234	T	.	.	.	0.171	0.43483	0.408	0.44230	0.043077524339	0.03247	0.4017182340036421	0.40087	2.63092040909	0.98348	0.85012114048	0.89633	D	0.017316	0.14146	T	-0.126443	0.32073	T	-0.419403	0.31144	T	0.0287773984428777	0.01803	T	0.772023	0.40277	T	0.19116896	0.40733	0.15798588	0.36916	0.19116896	0.40733	0.15798588	0.36915	-6.283	0.48587	T	.	.	0.110	0.38462	B	.;.;.	.;.;.	2.765938	0.36290	20.2	0.86771110503715476	0.16761	0.33933	0.24947	N	AEFDGI	0.084145	0.17052	N	-0.745773523590475	0.14749	0.7373186	-0.809230027004746	0.14272	0.7448904	0.0188493186001826	0.13102	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	1.05	1.05	0.19280	0.195000	0.16960	3.946000	0.40638	-0.681000	0.04224	0.998000	0.41325	1.000000	0.68203	0.035000	0.13729	0.0:0.0:1.0:0.0	5.499	0.16110	976	0.04745	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	41.42	8	chr8	12436289	.	G	C	41.42	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.220;DP=211;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0449;MLEAC=1;MLEAF=0.024;MQ=33.11;MQRankSum=0.144;QD=1.88;ReadPosRankSum=1.02;SOR=0.770	GT:AD:DP:GQ:PL	0/0:6,0:6:18:0,18,178	20	0	1	0
chr8	13021792	13021792	-	G	exonic	TRMT9B	.	frameshift insertion	TRMT9B:NM_001099677:exon2:c.736dupG:p.A246Gfs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1410.94	86	chr8	13021792	.	T	TG	1410.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=2081;ExcessHet=0.0000;FS=2.374;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=-1.038e+00;SOR=0.963	GT:AD:DP:GQ:PL	0/0:97,0:97:99:0,120,1800	20	0	1	0
chr8	13090358	13090358	T	A	exonic	DLC1	.	nonsynonymous SNV	DLC1:NM_001348084:exon10:c.A2435T:p.H812L	Colorectal cancer, somatic	.	432	1089	1	0	0	1	0.000458926	.	.	2931703	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.7	T	0.082	B	0.037	B	0.015	N	0.747	D	0	N	3.69	T	-0.975	T	0.008	T	0.467	0.126	4.675	4.16	1.152	3.268	4.717	0.100	0.0052676611577	.	.	0.0004	0	0.0003	0	0	6.004e-05	0.0033	0.0025	0.0003363	52	154602	rs778690040	0.0003	0.0003	0.0002	0.0004	0.0026	0.0002	0.0002	0.0023	0.0022	8.961e-05	0	0	0	0	0.0014	0.0001	0.0002	0.0026	9.851e-05	9.843e-05	6.426e-05	0.0001	0.0015	6.004e-05	4.877e-05	0.0007	0.0005	2.406e-05	0	0	0	0	0	0	0.0001	0	0.0015	0.827	0.09866	T	0.355	0.17217	T	0.002	0.24665	B	0.029	0.23121	B	0.014670	0.28464	N	0.391386	0.989794	0.24906	N	0.55	0.14455	N	3.69	0.05249	T	-0.74	0.22508	N	0.494	0.52740	-0.9751	0.36104	T	0.008	0.02842	T	10	0.014531583	0.00305	T	0.005268	0.13464	T	0.100	0.28662	0.57	0.69299	0.250512400709	0.24649	0.46098207361097154	0.46016	0.0323103836565	0.03370	0.469339609146	0.34589	T	0.067829	0.33301	T	-0.473752	0.00806	T	-0.458526	0.26759	T	0.0615247676180029	0.07406	T	0.883212	0.60517	D	0.076295234	0.17246	0.043446913	0.05408	0.076295234	0.17245	0.043446913	0.05407	-3.972	0.23609	T	.	.	0.092	0.13783	B	.;.;.;.	.;.;.;.	2.959121	0.39404	21.0	0.87690498063701317	0.17410	0.75055	0.36733	D	AEFDBCI	0.215200	0.34058	N	-0.40116963625786	0.25428	1.380283	-0.179050278288097	0.32309	1.836794	0.999194846735511	0.38711	0.67177	0.52595	0	0.588015	0.36545	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	5.32	4.16	0.48138	2.827000	0.47813	3.548000	0.39035	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.167:0.2962:0.5368	4.717	0.12279	944	0.12746	START domain|START domain;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1408.98	35	chr8	13090358	.	T	A	1408.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.900e-01;DP=794;ExcessHet=0.0000;FS=3.936;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.83;ReadPosRankSum=1.54;SOR=0.385	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1110	20	0	1	0
chr8	17027610	17027610	C	T	exonic	MICU3	.	nonsynonymous SNV	MICU3:NM_001349810:exon1:c.C331T:p.P111S	.	.	396	1078	41	7	0	55	0.0248756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.093	B	0.029	B	0.403	N	1.000	N	0.205	N	0.96	T	-1.021	T	0.048	T	0.094	0.408	6.215	2.43	0.975	0.039	8.086	0.013	.	.	0.00738818	0.1094	0	0.5	.	.	0.0789	.	0.1667	0.0013454	208	154602	rs200500624	0.0069	0.0065	0.0066	0.0072	0.0275	0.0068	0.0067	0.0262	0.0256	0.0009	0.0029	0.0306	0.0001	0.0049	0.0154	0.0060	0.0080	0.0275	0.0054	0.0054	0.0050	0.0058	0.0230	0.0051	0.0050	0.0195	0.0182	0.0011	0	0.0047	0.0323	0	0.0038	0.0034	0.0062	0.0071	0.0230	0.125	0.27310	T	0.603	0.07868	T	0.093	0.25333	B	0.029	0.21540	B	0.402710	0.13103	N	0.660243	1	0.08975	N	0.55	0.14455	N	0.96	0.42888	T	0.18	0.05035	N	0.173	0.18512	-1.0207	0.23486	T	0.048	0.20592	T	10	0.0014694929	0.00016	T	.	.	.	0.013	0.01715	.	.	0.0482279557977	0.04254	0.3599911044625781	0.35913	0.837194812772	0.67860	0.707130551338	0.68177	T	0.010703	0.09641	T	-0.530585	0.00381	T	-0.519989	0.20296	T	0.0405243162023735	0.03785	T	0.613539	0.23382	T	0.035434525	0.04169	0.07964865	0.17948	0.035434525	0.04168	0.07964865	0.17948	-3.528	0.16826	T	.	.	0.069	0.03231	B	.	.	1.446864	0.18675	13.86	0.89330916088496692	0.18705	0.02607	0.07180	N	AEFDBHCIJ	0.030292	0.03020	N	-1.24428004204296	0.04375	0.1973425	-1.2315283229291	0.05410	0.2577218	0.999999648656108	0.74766	0.009712	0.00066	3	0.435331	0.06439	0	0.239995	0.05000	1	0.621717	0.48901	0	.	.	3.31	2.43	0.28797	0.122000	0.15515	0.668000	0.20568	-0.178000	0.10482	0.000000	0.06391	0.000000	0.08366	0.459000	0.28096	0.2414:0.7586:0.0:0.0	8.086	0.29935	829	0.39537	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.09524	1684.9	25	chr8	17027610	.	C	T	1684.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.42;DP=617;ExcessHet=0.0082;FS=0.862;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=18.12;ReadPosRankSum=0.615;SOR=0.820	GT:AD:DP:GQ:PL	0/0:30,0:30:81:0,81,1215	18	1	2	0
chr8	17311576	17311576	C	T	exonic	MTMR7	.	nonsynonymous SNV	MTMR7:NM_004686:exon9:c.G1036A:p.A346T,	.	.	431	1078	13	0	0	13	0.00599355	.	.	3198866	MTMR7-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.975	D	0.000	D	1.000	D	1.31	L	-2.64	D	0.703	D	0.786	D	0.747	4.703	26.1	4.86	2.697	4.661	18.554	0.657	0.0691894218408	0.0004	0.000998403	0.0007	0	0.0003	0	0	0.0003	0.0022	0.0034	0.0005563	86	154602	rs140535945	0.0004	0.0004	0.0003	0.0005	0.0036	0.0003	0.0003	0.0033	0.0032	0	0.0002	0	2.519e-05	0	0.0014	0.0002	0.0004	0.0036	0.0003	0.0003	0.0002	0.0004	0.0037	0.0002	0.0002	0.0024	0.0020	9.626e-05	0	0.0006	0	0	0	0	0.0002	0.0005	0.0037	0.002	0.72154	D	0.006	0.72224	D	0.999	0.77913	D	0.975	0.73362	D	0.000000	0.84330	D	0.051359	1	0.81001	D	2.635	0.77114	M	-2.64	0.90147	D	-3.09	0.64246	D	0.741	0.74098	0.703	0.93210	D	0.786	0.92733	D	10	0.028658718	0.00996	T	0.069189	0.70662	D	0.657	0.87135	.	.	0.966092822729	0.96572	0.5228822262849222	0.52211	0.158344896958	0.17885	0.749525487423	0.74377	T	0.739206	0.92762	D	-0.0555893	0.43593	T	0.147229	0.80008	D	0.112328002724829	0.13664	T	0.855414	0.54290	D	0.5988728	0.72631	0.6494683	0.79495	0.5988728	0.72632	0.6494683	0.79495	-8.91	0.67116	D	.	.	0.246	0.48061	B	.;.	.;.	4.839918	0.79009	27.0	0.99925048421737517	0.99042	0.88222	0.48054	D	AEFCI	0.507482	0.53776	D	0.504975252794877	0.67383	5.074393	0.460317654810571	0.65382	4.816741	0.99799569922637	0.36288	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.664235	0.64389	0	.	.	4.86	4.86	0.62624	4.882000	0.62813	4.860000	0.45461	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.821000	0.38685	0.0:1.0:0.0:0.0	18.554	0.91028	939	0.14249	Myotubularin-like phosphatase domain|Tyrosine specific protein phosphatases domain|Myotubularin-like phosphatase domain|Protein-tyrosine phosphatase, catalytic;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3680.98	34	chr8	17311576	.	C	T	3680.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.242;DP=986;ExcessHet=0.0000;FS=0.955;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.21;ReadPosRankSum=-1.899e+00;SOR=0.780	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr8	17560458	17560458	C	T	exonic	SLC7A2	.	nonsynonymous SNV	SLC7A2:NM_001008539:exon9:c.C1429T:p.R477W	.	.	424	1097	1	0	0	1	0.000455581	.	.	2352848	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.933	P	0.368	B	0.061	N	1.000	N	1.525	L	-2.31	D	-0.335	T	0.535	D	0.266	0.901	8.661	2.38	0.274	3.325	9.316	0.234	0.107341904516	7.7e-05	.	4.942e-05	9.61e-05	0	0	0	4.495e-05	0	0.0001	3.88e-05	6	154602	rs377088674	5.199e-05	5.404e-05	4.901e-05	5.501e-05	0.0002	4.159e-05	3.888e-05	0.0001	9.45e-05	8.963e-05	0	3.826e-05	0	5.616e-05	0.0002	4.407e-05	4.969e-05	0.0002	9.201e-05	9.193e-05	7.708e-05	0.0001	0.0004	5.529e-05	4.366e-05	7.293e-05	4.24e-05	4.826e-05	0	6.548e-05	0	0	0	0	0.0001	0.0005	0.0004	0.028	0.46129	D	0.058	0.49663	T	0.933	0.52105	P	0.368	0.43478	B	0.060837	0.22218	N	0.525299	0.999977	0.18612	N	2.085	0.57729	M	-2.31	0.88997	D	-2.83	0.59710	D	0.228	0.34659	-0.3346	0.74000	T	0.535	0.82772	D	10	0.22235084	0.38985	T	0.107342	0.78338	D	0.234	0.53644	.	.	0.902272632983	0.90129	0.4772423327217984	0.47644	0.0919996188476	0.10386	0.193662106991	0.00297	T	0.372751	0.73687	T	-0.145035	0.29092	T	-0.20944	0.53748	T	0.116805475910438	0.14114	T	0.446455	0.13375	T	0.050409287	0.09101	0.040762257	0.04479	0.050409287	0.09101	0.040762257	0.04479	-8.129	0.63512	D	.	.	0.107	0.25100	B	.;.;.;.;.;.	.;.;.;.;.;.	2.454477	0.31607	18.79	0.96389213462464496	0.29647	0.90396	0.51538	D	AEFBCI	0.535336	0.55400	D	-0.524972849016933	0.21274	1.127854	-0.542769022928607	0.20997	1.133879	0.776188170113814	0.23756	0.736574	0.97449	0	0.573888	0.26702	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.27	2.38	0.28415	3.533000	0.53317	0.005000	0.13351	-0.173000	0.11020	0.988000	0.36536	0.000000	0.08366	0.001000	0.02609	0.2583:0.6739:0.0:0.0679	9.316	0.37099	842	0.36989	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1008.98	36	chr8	17560458	.	C	T	1008.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.149;DP=776;ExcessHet=0.0000;FS=0.957;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.21;ReadPosRankSum=1.29;SOR=0.523	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr8	17564991	17564991	G	C	exonic	SLC7A2	.	nonsynonymous SNV	SLC7A2:NM_001008539:exon12:c.G1822C:p.E608Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.942	P	0.562	P	0.000	D	1.000	D	0.805	L	-2.45	D	0.254	D	0.609	D	0.849	3.958	20.2	5.51	2.753	8.987	19.802	0.565	0.0692955578607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.375e-06	2.24e-05	2.3e-07	9e-08	.	.	0	2.24e-05	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.188	0.32461	T	0.942	0.52977	P	0.562	0.49608	P	0.000066	0.52346	D	0.195556	1	0.81001	D	0.695	0.17993	N	-2.45	0.89953	D	-1.78	0.42001	N	0.699	0.83167	0.254	0.86817	D	0.609	0.86157	D	10	0.57750213	0.65663	D	0.069296	0.70689	D	0.565	0.82232	0.201	0.11522	0.921200191938	0.92040	0.5793785699513329	0.57866	0.0387551026412	0.04121	0.432426542044	0.29540	T	0.187097	0.54060	T	0.34166	0.85945	D	0.252995	0.85761	D	0.721070647239685	0.41753	D	0.870113	0.57479	D	0.25648478	0.48688	0.15179949	0.35742	0.25648478	0.48688	0.15179949	0.35741	-5.707	0.45264	T	.	.	0.277	0.52809	B	.;.;.;.;.;.	.;.;.;.;.;.	4.067491	0.60414	24.2	0.99700096285523854	0.80591	0.98243	0.80867	D	AEFBCI	0.934964	0.92912	D	0.517207928001308	0.68109	5.171946	0.596577991272818	0.74694	6.180744	0.999999999590578	0.74766	0.744818	0.98587	0	0.573888	0.26702	0	0.732433	0.93434	0	0.735409	0.98432	0	.	.	5.51	5.51	0.81769	7.646000	0.82603	11.880000	0.98808	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.802000	0.37819	0.0:0.0:1.0:0.0	19.802	0.96506	839	0.37672	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	941.98	38	chr8	17564991	.	G	C	941.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.72;DP=781;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=-3.590e-01;SOR=0.610	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1256	20	0	1	0
chr8	17589474	17589474	G	A	exonic	PDGFRL	.	nonsynonymous SNV	PDGFRL:NM_001372073:exon2:c.G62A:p.G21D	Colorectal cancer, somatic;Hepatocellular cancer, somatic	.	26	1495	1	0	0	1	0.000334336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.986	D	0.734	P	0.001	N	0.999	D	1.7	L	1.32	T	-0.901	T	0.137	T	0.318	3.177	16.63	2.66	0.605	3.689	14.712	0.181	0.00962119828905	0.0002	0.000199681	0.0005	0	0	0	0	0.0003	0	0.0025	0.0004075	63	154602	rs369069249	0.0003	0.0003	0.0003	0.0004	0.0028	0.0003	0.0003	0.0025	0.0024	0	6.72e-05	3.832e-05	0	0	0.0021	0.0002	0.0003	0.0028	0.0002	0.0002	0.0002	0.0003	0.0025	0.0002	0.0002	0.0014	0.0011	7.231e-05	0	0.0001	0	0	0	0	0.0003	0	0.0025	0.022	0.48642	D	0.146	0.32891	T	0.986	0.61523	D	0.734	0.55432	P	0.001105	0.40219	N	0.169020	0.998983	0.45816	D	2.455	0.71248	M	1.32	0.35219	T	-1.79	0.42191	N	0.34	0.38129	-0.9010	0.47889	T	0.137	0.45260	T	10	0.019797683	0.00447	T	0.009621	0.25153	T	0.181	0.45247	.	.	0.631501200734	0.62848	0.34268019804840755	0.34181	0.0100119887689	0.00916	0.450783878565	0.32051	T	0.032387	0.22466	T	-0.433061	0.01421	T	-0.398517	0.33558	T	0.0772544720356213	0.09632	T	0.568943	0.20238	T	0.11550023	0.27255	0.22817367	0.47850	0.12585455	0.29494	0.19391355	0.42985	-5.846	0.44973	T	.	.	0.099	0.16929	B	.;.	.;.	2.603105	0.33792	19.44	0.99602843270502139	0.74338	0.96450	0.69199	D	AEFBI	0.500042	0.53347	D	0.0274298131140967	0.43105	2.610017	-0.0574138491849268	0.37170	2.172833	0.99996881870097	0.48965	0.706298	0.61202	0	0.588015	0.36545	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	4.52	2.66	0.30672	3.835000	0.55508	5.341000	0.48346	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.859000	0.40722	0.0:0.2757:0.7243:0.0	14.712	0.68859	851	0.35303	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	631.98	39	chr8	17589474	.	G	A	631.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=732;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.70;ReadPosRankSum=0.646;SOR=0.880	GT:AD:DP:GQ:PL	0/0:33,0:33:83:0,83,1153	20	0	1	0
chr8	17715892	17715892	G	A	exonic	MTUS1	.	nonsynonymous SNV	MTUS1:NM_001001931:exon2:c.C200T:p.A67V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.988	D	0.836	P	0.000	D	1.000	D	1.95	M	2.67	T	-0.882	T	0.162	T	0.483	3.403	17.49	3.97	1.351	3.015	13.713	0.154	0.0286938277522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.72154	D	0.016	0.60972	D	0.973	0.62325	D	0.64	0.59919	P	0.000141	0.49130	D	0.085063	1	0.81001	D	2.75	0.80375	M	2.67	0.35775	T	-1.75	0.41428	N	0.565	0.58883	-0.8816	0.49634	T	0.162	0.49797	T	10	0.3372829	0.50853	T	0.028694	0.51333	D	0.154	0.40340	0.057	0.00169	0.673290731237	0.67052	0.14450706623451692	0.14373	.	.	0.408744990826	0.26283	T	0.058995	0.30995	T	-0.0489599	0.44606	T	-0.308104	0.43861	T	0.930219709873199	0.59478	D	0.869413	0.59928	D	0.16448002	0.36658	0.20729782	0.44982	0.16448002	0.36657	0.20729782	0.44982	-3.856	0.21644	T	.	.	0.096	0.33823	B	.;.;.;.	.;.;.;.	3.408129	0.47264	22.4	0.99882441669800304	0.95813	0.78196	0.38544	D	AEFBHCI	0.433621	0.49500	N	0.330785083233891	0.57735	3.942014	0.269580744998826	0.53771	3.544484	0.998582606468762	0.37247	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.85	3.97	0.45241	3.106000	0.50013	4.832000	0.45208	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.591000	0.31164	0.0:0.0:0.8455:0.1545	13.713	0.62160	609	0.67094	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	663.98	38	chr8	17715892	.	G	A	663.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.620e-01;DP=727;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=0.072;SOR=0.749	GT:AD:DP:GQ:PL	0/0:29,0:29:81:0,81,969	20	0	1	0
chr8	17754037	17754037	T	C	exonic	MTUS1	.	nonsynonymous SNV	MTUS1:NM_001001924:exon2:c.A1771G:p.T591A	.	.	424	1076	21	1	0	23	0.0105747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.487	P	0.203	B	0.017	N	1.000	N	0.975	L	3.14	T	-1.038	T	0.059	T	0.245	1.613	11.35	3.74	0.963	-0.003	4.669	0.029	.	8.3e-05	0.00379393	0.0024	0.0003	8.639e-05	0.0001	0	0.0003	0.0022	0.0157	0.0020763	321	154602	rs200539556	0.0012	0.0012	0.0007	0.0017	0.0173	0.0011	0.0011	0.0166	0.0163	2.987e-05	0.0002	0	5.038e-05	0	0.0059	9.263e-05	0.0011	0.0173	0.0006	0.0006	0.0003	0.0008	0.0131	0.0005	0.0004	0.0105	0.0095	2.406e-05	0	0	0	0	0	0	0.0003	0.0005	0.0131	0.005	0.63226	D	0.093	0.39799	T	0.096	0.36886	B	0.038	0.37000	B	0.016904	0.27856	N	0.297831	0.824439	0.29019	N	1.32	0.33002	L	3.14	0.35590	T	-1.76	0.41618	N	0.195	0.27910	-1.0381	0.17893	T	0.059	0.24539	T	10	0.0043945312	0.00089	T	.	.	.	0.029	0.06676	.	.	0.398133443147	0.39430	0.09200691151694472	0.09133	.	.	0.293597280979	0.09449	T	0.016183	0.13427	T	-0.514338	0.00474	T	-0.497962	0.22560	T	0.0306784420219683	0.02096	T	0.620138	0.25952	T	0.14582437	0.33409	0.08430943	0.19385	0.16457364	0.36672	0.102871716	0.24667	-3.602	0.17973	T	.	.	0.090	0.18414	B	.;.;.	.;.;.	1.847264	0.23471	16.03	0.98489533472077961	0.42085	0.46262	0.27721	N	ALL	0.143488	0.26620	N	-0.217943700044761	0.32396	1.826658	-0.0923455780492205	0.35704	2.06891	0.999999916866603	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.616125	0.45549	0	.	.	4.95	3.74	0.42108	-0.137000	0.10369	1.074000	0.23831	0.665000	0.62972	0.914000	0.31788	1.000000	0.68203	1.000000	0.97212	0.0:0.1854:0.1614:0.6532	4.669	0.12065	559	0.71409	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3139.98	33	chr8	17754037	.	T	C	3139.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=922;ExcessHet=0.0000;FS=1.011;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.53;ReadPosRankSum=0.272;SOR=0.612	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr8	17755053	17755053	T	A	exonic	MTUS1	.	nonsynonymous SNV	MTUS1:NM_001001924:exon2:c.A755T:p.Q252L	.	.	424	1086	11	1	0	13	0.00594966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99	D	0.814	P	0.246	N	1.000	D	0.975	L	2.96	T	-1.074	T	0.069	T	0.592	3.282	17.02	4.38	2.200	0.169	11.848	0.135	.	0.0004	0.00139776	0.0027	0	0.0012	0	0	0.0010	0.0011	0.0146	0.0021798	337	154602	rs201091356	0.0013	0.0013	0.0008	0.0018	0.0146	0.0012	0.0012	0.0139	0.0137	5.974e-05	0.0007	0.0097	0	0	0.0059	0.0002	0.0018	0.0146	0.0007	0.0007	0.0005	0.0010	0.0104	0.0006	0.0006	0.0081	0.0073	9.618e-05	0	0.0002	0.0081	0	0	0.0034	0.0003	0.0019	0.0104	0.002	0.72154	D	0.027	0.55341	D	0.728	0.42542	P	0.503	0.47728	P	0.246262	0.15605	N	0.603585	0.876748	0.35669	D	0.975	0.24501	L	2.96	0.09542	T	-1.66	0.39692	N	0.261	0.29544	-1.0737	0.08619	T	0.069	0.28113	T	9	0.003704518	0.00068	T	.	.	.	0.135	0.36572	.	.	0.524480850804	0.52094	0.21178826439603976	0.21094	.	.	0.281745374203	0.07736	T	0.021751	0.16884	T	-0.462382	0.00950	T	-0.42528	0.30473	T	0.050066761016761	0.05511	T	0.636336	0.25008	T	0.14954525	0.34087	0.14167039	0.33729	0.12587784	0.29498	0.18762806	0.42005	-4.204	0.26997	T	.	.	0.158	0.39220	B	.;.;.	.;.;.	3.085527	0.41523	21.4	0.99547527987600504	0.70898	0.76092	0.37294	D	AEFDGBCI	0.241453	0.36307	N	0.14267188873995	0.48465	3.058495	0.17166341923962	0.48301	3.04789	0.999999989737451	0.74766	0.533608	0.22052	0	0.491513	0.07743	0	0.685742	0.62368	0	0.620976	0.48614	0	.	.	4.38	4.38	0.52019	0.255000	0.18102	3.730000	0.39615	0.665000	0.62972	0.682000	0.28457	1.000000	0.68203	0.861000	0.40843	0.0:0.0:0.0:1.0	11.848	0.51671	559	0.71409	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2688.98	153	chr8	17755053	.	T	A	2688.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.090e-01;DP=3455;ExcessHet=0.0000;FS=2.956;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=0.516;SOR=0.733	GT:AD:DP:GQ:PL	0/0:183,0:183:99:0,120,1800	20	0	1	0
chr8	17874426	17874426	T	C	exonic	FGL1	.	nonsynonymous SNV	FGL1:NM_004467:exon4:c.A340G:p.M114V	.	.	429	1060	30	3	0	36	0.0166976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.000	D	1.000	D	2.765	M	1.78	T	-0.719	T	0.146	T	0.877	4.098	21.1	5.11	2.072	7.333	15.253	0.485	.	0.0052	0.00599042	0.0084	0.0007	0.0076	0	0.0060	0.0095	0.0154	0.0144	0.0003842	10	26028	rs35311020	0.0064	0.0065	0.0060	0.0069	0.0310	0.0063	0.0063	0.0273	0.0259	0.0009	0.0053	0.0384	0	0.0047	0.0310	0.0053	0.0088	0.0147	0.0060	0.0060	0.0059	0.0061	0.0159	0.0057	0.0055	0.0131	0.0120	0.0012	0	0.0040	0.0363	0	0.0044	0.0136	0.0077	0.0118	0.0159	0.008	0.58626	D	0.008	0.67890	D	0.999	0.77913	D	0.992	0.80445	D	0.000000	0.84330	D	0.071198	0.999992	0.58761	D	2.725	0.79712	M	1.78	0.25678	T	-2.8	0.59226	D	0.891	0.89020	-0.7191	0.59507	T	0.146	0.47021	T	10	0.010201037	0.00228	T	.	.	.	0.485	0.77399	.	.	0.301122078929	0.29733	0.5863605257373335	0.58566	.	.	0.591809689999	0.51749	T	0.027311	0.20030	T	-0.134255	0.30810	T	0.047	0.73366	D	0.0193578184801095	0.00640	T	0.833317	0.50212	T	0.72937727	0.79688	0.7215388	0.83557	0.72937727	0.79690	0.7215388	0.83557	-7.693	0.58959	D	.	.	0.386	0.59749	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.355095	0.66921	25.0	0.99438312256023687	0.64621	0.97972	0.78540	D	AEFBI	0.959981	0.98057	D	0.79914716100608	0.86051	8.763559	0.742853908507329	0.85621	8.635917	0.999999813152066	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.11	5.11	0.69188	7.340000	0.78530	7.707000	0.66598	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:0.0:1.0	15.253	0.73258	489	0.76795	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2270.08	35	chr8	17874426	.	T	C	2270.08	.	AC=2;AF=0.048;AN=42;DP=771;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=27.68;SOR=0.961	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1110	20	1	0	0
chr8	17957605	17957605	G	A	exonic	PCM1	.	nonsynonymous SNV	PCM1:NM_001352647:exon12:c.G1870A:p.E624K	.	.	1	1495	26	0	0	26	0.00862069	.	.	751049	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.49	T	0.99	D	0.979	D	0.014	N	1.000	D	1.39	L	3.4	T	-1.154	T	0.069	T	0.354	3.038	16.14	5.15	2.784	4.096	16.920	0.106	0.00681394270651	0.0003	0.000798722	0.0023	0	0.0033	0.0005	0	0.0007	0	0.0076	0.0009832	152	154602	rs200548498	0.0007	0.0007	0.0005	0.0009	0.0101	0.0007	0.0007	0.0080	0.0073	0.0002	0.0004	0	0	1.953e-05	0.0101	0.0003	0.0007	0.0077	0.0006	0.0006	0.0004	0.0008	0.0087	0.0005	0.0005	0.0066	0.0059	2.406e-05	0	0.0011	0	0	0	0.0034	0.0003	0.0028	0.0087	0.306	0.39334	T	0.021	0.58089	D	0.89	0.48942	P	0.419	0.45047	B	0.013640	0.28781	N	0.426089	0.985317	0.40266	D	.	.	.	3.4	0.19450	T	-1.44	0.41809	N	0.427	0.57604	-1.1540	0.00911	T	0.069	0.28346	T	10	0.005885303	0.00132	T	0.006814	0.18010	T	0.106	0.30130	.	.	0.518858945281	0.51528	0.057921824756811104	0.05733	.	.	0.425548821688	0.28600	T	0.028726	0.20742	T	-0.447732	0.01164	T	-0.411067	0.32103	T	0.0327865182706198	0.02435	T	0.973003	0.90628	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.30049	B	.;.;.;.;.	.;.;.;.;.	4.307470	0.65821	24.9	0.99789681366376193	0.87572	0.92451	0.55742	D	AEFBI	0.281370	0.39496	N	0.382420225242975	0.60468	4.236178	0.430501876940594	0.63474	4.581818	0.999999154729193	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.15	5.15	0.70287	4.206000	0.58271	10.023000	0.83142	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	16.920	0.86031	889	0.27310	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1374.98	39	chr8	17957605	.	G	A	1374.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.90;DP=903;ExcessHet=0.0000;FS=2.409;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=-1.320e-01;SOR=0.779	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr8	17972531	17972531	A	G	exonic	PCM1	.	nonsynonymous SNV	PCM1:NM_001352647:exon22:c.A3787G:p.S1263G	.	.	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.994	D	0.000	D	1.000	D	1.67	L	0.23	T	-0.352	T	0.333	T	0.558	4.057	20.8	4.81	2.104	9.084	15.071	0.325	0.064991494881	.	.	3.316e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs759425199	9.579e-06	9.577e-06	5.446e-06	1.375e-05	0.0002	5.56e-06	4.35e-06	7.998e-05	6.236e-05	0	0	0	0	0	0.0002	8.994e-07	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.005	0.79402	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.23	0.59717	T	-2.35	0.51968	N	0.799	0.79503	-0.3517	0.73504	T	0.333	0.70010	T	10	0.5261908	0.62922	D	0.064991	0.69445	D	0.325	0.64725	0.119	0.02647	0.829995710165	0.82838	0.1977790323496197	0.19694	.	.	0.484129816294	0.36625	T	.	.	.	-0.147449	0.28710	T	-0.157428	0.58582	T	0.478035849030201	0.31826	T	0.962404	0.85901	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.459	0.62670	A	.;.;.;.	.;.;.;.	4.686440	0.75048	26.3	0.99622611015036455	0.75533	0.99835	0.99758	D	AEFBI	0.904152	0.85410	D	0.658520340109997	0.76922	6.576421	0.635443493879399	0.77531	6.697336	0.999995284238706	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.81	4.81	0.61401	9.048000	0.93289	11.294000	0.92114	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.071	0.71702	895	0.25842	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1510.98	111	chr8	17972531	.	A	G	1510.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.137;DP=806;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.61;ReadPosRankSum=0.515;SOR=0.687	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr8	17989893	17989893	A	G	exonic	PCM1	.	nonsynonymous SNV	PCM1:NM_001352647:exon25:c.A4280G:p.H1427R	.	.	46	1475	1	0	0	1	0.000338868	.	.	2382244	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.589	P	0.219	B	0.137	N	1.000	N	0	N	-0.01	T	-1.060	T	0.040	T	0.245	2.325	13.73	3.86	2.096	2.570	3.395	0.062	0.00899148486443	9.1e-05	.	4.472e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs372028178	2.438e-05	2.326e-05	2.123e-05	2.762e-05	0.0002	1.755e-05	1.549e-05	2.236e-05	1.22e-05	0	8.438e-05	0	0	0	0.0002	2.138e-05	5.189e-05	5.093e-05	3.946e-05	3.94e-05	3.858e-05	4.038e-05	0.0003	1.717e-05	1.13e-05	0.0001	8.3e-05	0	0	0.0003	0	0	0	0	1.472e-05	0	0	0.384	0.11050	T	0.411	0.30828	T	.	.	.	.	.	.	0.137098	0.18424	N	0.595351	0.926264	0.27173	N	.	.	.	-0.01	0.62762	T	-1.11	0.28703	N	0.175	0.21449	-1.0602	0.11706	T	0.040	0.17063	T	10	0.11991602	0.22702	T	0.008991	0.23678	T	0.068	0.19811	.	.	0.790636350121	0.78869	0.08138399061608662	0.08073	.	.	0.497786700726	0.38519	T	.	.	.	-0.203948	0.20238	T	-0.38044	0.35669	T	0.187468320131302	0.19694	T	0.645735	0.25721	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10497	B	.;.;.;.	.;.;.;.	2.602587	0.33784	19.44	0.97876302910538704	0.36567	0.73502	0.35953	D	AEFBI	0.182100	0.30943	N	0.0505751325218534	0.44168	2.695899	0.168984972520942	0.48157	3.035449	0.111213031812127	0.16653	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.631631	0.49550	0	.	.	5.17	3.86	0.43689	2.635000	0.46203	1.977000	0.30015	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.6558:0.0:0.3442:0.0	3.395	0.06880	912	0.21483	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1150.98	35	chr8	17989893	.	A	G	1150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.666e+00;DP=789;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=-1.070e-01;SOR=0.637	GT:AD:DP:GQ:PL	0/1:43,53:96:99:1165,0,1005	20	0	1	0
chr8	17989928	17989928	A	C	exonic	PCM1	.	nonsynonymous SNV	PCM1:NM_001352647:exon25:c.A4315C:p.S1439R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	1.59	L	-0.65	T	-0.035	T	0.465	T	0.885	3.578	18.23	5.17	2.096	7.825	15.333	0.576	0.114989843717	.	.	.	.	.	.	.	.	.	.	.	.	.	rs576672549	5.74e-06	5.473e-06	1.416e-06	1.018e-05	1.276e-05	2.47e-06	1.79e-06	2.71e-06	1.74e-06	0	0	0	0	0	0	6.51e-06	0	1.276e-05	6.575e-06	6.567e-06	1.286e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.001	0.78490	D	0.006	0.74150	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.65	0.72237	T	-2.57	0.55501	D	0.806	0.80180	-0.0345	0.81536	T	0.465	0.79295	T	10	0.78545535	0.78207	D	0.11499	0.79402	D	0.576	0.82855	0.264	0.20946	0.99146276102	0.99137	0.50028635489063	0.49949	.	.	0.6036413908	0.53418	T	.	.	.	0.355947	0.86934	D	0.284335	0.87358	D	0.972036182880402	0.69544	D	0.970103	0.89229	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.980	0.91043	P	.;.;.;.	.;.;.;.	4.600333	0.72850	25.9	0.99521520060158242	0.69284	0.99689	0.98687	D	AEFBI	0.914926	0.87900	D	0.693064507807364	0.79176	7.023111	0.690924198340721	0.81690	7.585845	0.999889391196482	0.44867	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.631631	0.49550	0	.	.	5.17	5.17	0.70848	7.853000	0.85257	11.182000	0.88348	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	15.333	0.73942	912	0.21483	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1091.98	35	chr8	17989928	.	A	C	1091.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.959e+00;DP=773;ExcessHet=0.0000;FS=1.900;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.00;ReadPosRankSum=0.291;SOR=0.492	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr8	18059454	18059454	T	G	exonic	ASAH1	.	nonsynonymous SNV	ASAH1:NM_001127505:exon12:c.A910C:p.K304Q	Farber lipogranulomatosis, Autosomal recessive;Spinal muscular atrophy with progressive myoclonic epilepsy, Autosomal recessive	.	1	1510	11	0	0	11	0.00362917	.	.	722973	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.15	T	0.045	B	0.057	B	0.002	N	1.000	N	1.9	L	-1.3	T	-0.717	T	0.347	T	0.119	1.036	9.230	-1.11	-0.334	1.342	6.285	0.146	0.0374729699211	0.0002	0.000798722	0.0006	0	8.639e-05	0	0.0006	0.0001	0	0.0036	0.0005175	80	154602	rs139585444	0.0004	0.0004	0.0003	0.0005	0.0037	0.0003	0.0003	0.0034	0.0032	0	4.472e-05	0.0005	0	0.0006	0.0012	0.0001	0.0003	0.0037	0.0003	0.0003	0.0002	0.0003	0.0037	0.0002	0.0002	0.0024	0.0020	0	0	0.0001	0	0	0.0005	0	0.0002	0.0009	0.0037	0.106	0.31682	T	0.582	0.11691	T	0.045	0.21781	B	0.038	0.26280	B	0.001928	0.37643	N	0.356872	0.999994	0.08975	N	2.05	0.56469	M	-1.3	0.79571	T	-1.25	0.34198	N	0.136	0.24883	-0.7173	0.59595	T	0.347	0.71186	T	10	0.005446613	0.00120	T	0.037473	0.57640	D	0.146	0.38789	.	.	0.765514111505	0.76337	0.6568449078281252	0.65621	0.00311655079184	0.00269	0.35438734293	0.18566	T	0.473506	0.80534	T	-0.420544	0.01697	T	-0.378964	0.35845	T	0.0225971585815455	0.00976	T	0.787921	0.42712	T	0.101373985	0.23944	0.039263356	0.03978	0.101373985	0.23944	0.039263356	0.03978	-5.335	0.42582	T	0.2197560486909151	0.29615	0.091	0.20117	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	0.875483	0.12483	9.017	0.89215426406746701	0.18607	0.62329	0.31748	D	AEFBI	0.271392	0.38725	N	-0.658849750466302	0.17203	0.8832184	-0.692180221645697	0.17156	0.9109568	0.149474320749768	0.17416	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.53	-1.11	0.09336	0.862000	0.27553	-0.413000	0.09334	0.665000	0.62972	0.572000	0.27522	0.000000	0.08366	0.569000	0.30626	0.0:0.258:0.1208:0.6212	6.285	0.20235	923	0.18507	Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;.;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1635.98	35	chr8	18059454	.	T	G	1635.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.300e-01;DP=852;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=1.55;SOR=0.699	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1164	20	0	1	0
chr8	18222696	18222696	T	G	exonic	NAT1	.	nonsynonymous SNV	NAT1:NM_001160174:exon1:c.T649G:p.F217V	.	.	0	1512	10	0	0	10	0.00329598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.98	D	0.000	D	1.000	D	3.85	H	4.2	T	-1.028	T	0.055	T	0.618	2.212	13.35	4.21	1.679	5.747	11.536	0.309	0.0261605364514	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1171885310	1.368e-06	1.368e-06	2.723e-06	0	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.007	0.69154	D	0.99	0.73220	D	0.957	0.74843	D	0.000004	0.62929	D	0.062472	0.999974	0.53665	D	4.04	0.96988	H	4.2	0.02689	T	-5.88	0.89152	D	0.635	0.65330	-1.0277	0.21200	T	0.055	0.23375	T	10	0.9755274	0.97305	D	0.026161	0.49088	D	0.309	0.63055	0.933	0.98990	0.403469152278	0.39964	0.8337172100996877	0.83330	0.0917472706437	0.10355	0.440707713366	0.30673	T	0.319622	0.69089	T	-0.00645039	0.50762	T	-0.247042	0.50108	T	0.982955038547516	0.74805	D	0.839416	0.51368	T	0.9388053	0.95125	0.7097968	0.82883	0.9388053	0.95125	0.7097968	0.82884	-11.11	0.80258	D	.	.	0.852	0.81771	P	.;.;.;.;.;.	.;.;.;.;.;.	3.835576	0.55468	23.6	0.96384372317559464	0.29630	0.97279	0.73757	D	AEFBI	0.593672	0.58890	D	0.466709007220709	0.65156	4.787349	0.233830297838367	0.51734	3.353444	0.98836189474093	0.31492	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	4.21	4.21	0.48984	5.729000	0.68186	0.199000	0.15831	0.609000	0.47794	1.000000	0.71638	0.004000	0.18990	0.699000	0.34110	0.0:0.0:0.0:1.0	11.536	0.49892	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1886.98	34	chr8	18222696	.	T	G	1886.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.670e-01;DP=868;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=-5.270e-01;SOR=0.698	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1115	20	0	1	0
chr8	18801311	18801311	T	C	exonic	PSD3	.	nonsynonymous SNV	PSD3:NM_206909:exon4:c.A380G:p.N127S	.	.	461	1060	1	0	0	1	0.000471476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.155	B	0.065	B	0.000	D	1.000	D	0.08	N	0.59	T	-0.949	T	0.096	T	0.168	2.074	12.89	5.79	2.202	2.064	14.085	0.055	0.0109250127665	0.0003	.	0.0003	9.858e-05	0.0002	0	0	0.0005	0	0	0.0002781	43	154602	rs142157563	0.0003	0.0003	0.0003	0.0003	0.0022	0.0003	0.0003	0.0012	0.0010	9.014e-05	0.0001	0	0	0.0001	0.0022	0.0004	0.0003	8.173e-05	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	0	0	0.0001	0	0	0	0	0.0005	0.0005	0	0.261	0.35918	T	0.444	0.27767	T	0.002	0.09854	B	0.004	0.10090	B	0.000028	0.55875	D	0.114967	0.911908	0.36434	D	-0.005	0.05143	N	0.59	0.53943	T	-1.45	0.36385	N	0.228	0.28264	-0.9494	0.41075	T	0.096	0.36029	T	10	0.13408425	0.25519	T	0.010925	0.28000	T	0.055	0.15663	.	.	0.239312915715	0.23560	0.29366360552177717	0.29279	0.0238580147204	0.02421	0.438957393169	0.30435	T	0.022597	0.17395	T	-0.412014	0.01927	T	-0.463164	0.26256	T	0.0579202733933926	0.06838	T	0.854615	0.54143	D	0.17403232	0.38185	0.22108205	0.46906	0.17403232	0.38184	0.22108205	0.46905	-6.418	0.51282	T	.	.	0.075	0.06803	B	.;.;.;.;.	.;.;.;.;.	2.768954	0.36341	20.2	0.99260223469629882	0.57188	0.85758	0.44926	D	AEFBI	0.507654	0.53786	D	-0.208836767032639	0.32771	1.85189	-0.00479337233499273	0.39499	2.34284	0.999872940148206	0.44625	0.706298	0.61202	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.79	5.79	0.91751	2.404000	0.44192	4.995000	0.46555	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	14.085	0.64477	964	0.07719	.;Sec7 domain|Sec7 domain|Sec7 domain|Sec7 domain;.;Sec7 domain|Sec7 domain|Sec7 domain|Sec7 domain;Sec7 domain|Sec7 domain|Sec7 domain|Sec7 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	540.98	38	chr8	18801311	.	T	C	540.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.390e-01;DP=797;ExcessHet=0.0000;FS=0.949;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.07;ReadPosRankSum=0.115;SOR=0.922	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr8	19313807	19313807	A	-	exonic	SH2D4A	.	frameshift deletion	SH2D4A:NM_001174160:exon1:c.30delA:p.A12Rfs*24,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs565027575	3.615e-05	3.489e-05	2.912e-05	4.337e-05	0.0013	2.767e-05	2.493e-05	0.0006	0.0004	0	6.031e-05	0	0	3.013e-05	0.0013	3.472e-05	3.526e-05	0	5.912e-05	5.907e-05	5.143e-05	6.716e-05	0.0001	3.077e-05	2.21e-05	2.848e-05	1.859e-05	0	0	0.0001	0	0	0	0.0068	7.356e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	743.94	36	chr8	19313806	.	CA	C	743.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.818e+00;DP=772;ExcessHet=0.0000;FS=1.023;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=0.194;SOR=0.812	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1079	20	0	1	0
chr8	19458495	19458495	G	A	exonic	CSGALNACT1	.	nonsynonymous SNV	CSGALNACT1:NM_001354497:exon3:c.C782T:p.T261M	.	.	425	1081	16	0	0	16	0.00734619	.	.	1632183	not_provided|CSGALNACT1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.269	B	0.041	B	0.000	D	0.925	D	1.265	L	1.45	T	-1.069	T	0.060	T	0.615	2.513	14.36	5.61	2.813	4.831	11.975	0.080	0.00868110555287	0.0008	0.000998403	0.0012	0.0003	0.0023	0.0001	0	0.0013	0.0044	0.0013	0.0010931	169	154602	rs35868450	0.0009	0.0009	0.0008	0.0010	0.0160	0.0009	0.0009	0.0133	0.0123	0.0006	0.0021	0.0008	0.0001	0	0.0160	0.0008	0.0014	0.0016	0.0010	0.0010	0.0009	0.0010	0.0031	0.0009	0.0008	0.0024	0.0022	0.0002	0	0.0031	0	0.0004	0	0.0068	0.0010	0.0038	0.0023	0.144	0.25255	T	0.111	0.37173	T	0.269	0.31731	B	0.041	0.23986	B	0.000112	0.50451	D	0.222437	0.92503	0.36793	D	0.94	0.23649	L	1.45	0.32482	T	-0.76	0.21215	N	0.369	0.41162	-1.0690	0.09634	T	0.060	0.25018	T	10	0.0123773515	0.00266	T	0.008681	0.22927	T	0.080	0.23350	.	.	0.24896430686	0.24499	0.7726856929665791	0.77218	0.0227418883383	0.02294	0.382776319981	0.22650	T	0.043834	0.26626	T	-0.398649	0.02363	T	-0.341403	0.40186	T	0.0183832905140955	0.00556	T	0.738626	0.35686	T	0.019794885	0.00517	0.07137352	0.15278	0.022573026	0.00929	0.073309325	0.15917	-3.238	0.12951	T	0.07651529419031387	0.03503	0.083	0.09385	B	.;.;.	.;.;.	2.422986	0.31160	18.66	0.98845516168024439	0.47203	0.78148	0.38513	D	ALL	0.442781	0.50036	N	0.16144466096877	0.49356	3.13685	0.322003019011883	0.56837	3.847536	1.0	0.98316	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.466023	0.07079	0	.	.	5.61	5.61	0.85347	4.943000	0.63255	5.127000	0.47629	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.08:0.0:0.92:0.0	11.975	0.52376	911	0.21964	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	925.98	33	chr8	19458495	.	G	A	925.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.514;DP=793;ExcessHet=0.0000;FS=7.546;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=1.85;SOR=1.411	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr8	19458559	19458559	T	C	exonic	CSGALNACT1	.	nonsynonymous SNV	CSGALNACT1:NM_001354497:exon3:c.A718G:p.I240V	.	.	421	1085	16	0	0	16	0.0073193	.	.	1632185	CSGALNACT1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.52	T	0.0	B	0.001	B	0.000	N	1.000	N	-1.735	N	2.47	T	-0.946	T	0.010	T	0.062	-0.296	2.589	2.85	0.136	1.502	9.675	0.036	0.0032492458473	0.0008	0.000798722	0.0012	0.0003	0.0023	0	0	0.0013	0.0044	0.0013	0.0010673	165	154602	rs151311119	0.0009	0.0009	0.0008	0.0010	0.0160	0.0009	0.0009	0.0133	0.0123	0.0006	0.0020	0.0008	0	0	0.0160	0.0008	0.0015	0.0016	0.0010	0.0010	0.0009	0.0010	0.0031	0.0008	0.0008	0.0024	0.0022	0.0002	0	0.0031	0	0.0002	0	0.0068	0.0010	0.0038	0.0023	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.000302	0.45977	N	0.221798	0.999999	0.08975	N	-2.035	0.00180	N	2.47	0.14783	T	0.46	0.03140	N	0.156	0.16447	-0.9463	0.41599	T	0.010	0.03856	T	10	0.006654799	0.00151	T	0.003249	0.07177	T	0.036	0.09122	.	.	0.0611884634855	0.05136	0.5848306877477701	0.58413	0.0166212975511	0.01604	0.28974956274	0.08886	T	0.027674	0.20215	T	-0.720118	0.00028	T	-0.803171	0.01824	T	0.00260617369483874	0.00027	T	0.372463	0.08834	T	0.022388741	0.00899	0.035233706	0.02738	0.01704412	0.00241	0.0329489	0.02109	-0.937	0.00932	T	0.0315102872758545	0.00105	0.058	0.00647	B	.;.;.	.;.;.	0.362446	0.07350	3.969	0.67984156756306735	0.08519	0.14777	0.18580	N	AEFDGBHCI	0.064896	0.12628	N	-1.00953537719508	0.08405	0.3939863	-0.785374313636984	0.14854	0.778274	0.99999999999833	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.466023	0.07079	0	.	.	5.61	2.85	0.32333	1.210000	0.31975	2.184000	0.31153	-0.834000	0.02848	0.573000	0.27530	0.978000	0.30204	0.906000	0.44173	0.0:0.7189:0.0:0.2811	9.675	0.39196	911	0.21964	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	654.98	33	chr8	19458559	.	T	C	654.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.547e+00;DP=806;ExcessHet=0.0000;FS=1.744;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.36;ReadPosRankSum=-1.639e+00;SOR=0.623	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr8	19505333	19505333	C	T	exonic	CSGALNACT1	.	nonsynonymous SNV	CSGALNACT1:NM_001354497:exon2:c.G502A:p.E168K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.91	T	0.999	D	0.971	D	0.000	D	1.000	D	2.31	M	2.45	T	-1.031	T	0.106	T	0.86	5.378	34	5.74	2.873	7.409	18.861	0.287	0.0728134589849	.	0.000199681	9.894e-05	0	0	0	0	0	0	0.0007	8.41e-05	13	154602	rs548865058	2.736e-05	2.805e-05	9.529e-06	4.538e-05	0.0004	2.062e-05	1.816e-05	0.0003	0.0003	0	0	0	0	0	0.0002	8.993e-07	6.623e-05	0.0004	1.97e-05	1.968e-05	1.285e-05	2.685e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	0	0	0.0006	0.155	0.24183	T	0.186	0.28860	T	0.999	0.77913	D	0.971	0.72444	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.755	0.80505	M	2.45	0.15028	T	-1.52	0.36980	N	0.793	0.82257	-1.0313	0.20034	T	0.106	0.38734	T	10	0.4392299	0.57993	T	0.072813	0.71628	D	0.287	0.60574	0.404	0.43573	0.266843984389	0.26308	0.7895882055827058	0.78910	0.142100849321	0.16023	0.820055961609	0.85036	D	0.065967	0.32824	T	-0.0981112	0.36739	T	-0.029275	0.68417	D	0.77948272228241	0.45018	D	0.972903	0.90223	D	0.34677696	0.56815	0.3239626	0.58324	0.37515536	0.58964	0.3236516	0.58294	-6.068	0.46844	T	.	.	0.726	0.74047	P	.;.;.	.;.;.	5.375178	0.90099	31	0.99934185426127542	0.99535	0.97941	0.78296	D	AEFGBI	0.909532	0.86629	D	0.668746817452122	0.77585	6.703416	0.686158913915395	0.81326	7.500837	0.999999999999999	0.74766	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.491896	0.07777	0	.	.	5.74	5.74	0.90070	7.535000	0.80919	5.983000	0.52202	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	18.861	0.92242	944	0.12746	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2274.98	94	chr8	19505333	.	C	T	2274.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.641;DP=1736;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=0.913;SOR=0.691	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr8	20148022	20148022	G	A	exonic	SLC18A1	.	nonsynonymous SNV	SLC18A1:NM_001142324:exon13:c.C1099T:p.L367F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.967	D	0.001	D	1.000	D	1.95	M	0.32	T	-0.370	T	0.331	T	0.547	2.497	14.31	4.89	2.256	0.329	12.504	0.325	0.0274871577786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.68238	D	0.049	0.48336	D	0.997	0.70673	D	0.959	0.70163	D	0.000529	0.43581	D	0.195688	0.999926	0.51308	D	2.595	0.75868	M	0.31	0.58613	T	-3.39	0.66896	D	0.59	0.61002	-0.3700	0.72961	T	0.331	0.69843	T	10	0.43091834	0.57484	T	0.027487	0.50293	D	0.325	0.64725	0.602	0.73346	0.227260227426	0.22338	0.8961176231425869	0.89582	0.00504601159688	0.00449	0.498041033745	0.38554	T	0.343375	0.71203	T	-0.0186257	0.49049	T	-0.264531	0.48371	T	0.972477674484253	0.69713	D	0.861714	0.57430	D	0.34236172	0.56466	0.4588394	0.68559	0.34236172	0.56466	0.4588394	0.68560	-7.653	0.58680	D	.	.	0.226	0.60693	B	.;.;.;.;.;.	.;.;.;.;.;.	4.004179	0.59023	24.0	0.99838424170215689	0.91886	0.27143	0.23194	N	AEFDBI	0.275031	0.39008	N	0.25318607950237	0.53797	3.547129	0.19010170719913	0.49303	3.135162	0.999869283902452	0.44398	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.89	4.89	0.63387	0.389000	0.20478	5.018000	0.46723	0.676000	0.76740	0.082000	0.22389	1.000000	0.68203	0.989000	0.64315	0.0:0.1685:0.8315:0.0	12.504	0.55315	952	0.10565	.;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2896.98	45	chr8	20148022	.	G	A	2896.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.945;DP=1219;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=-1.472e+00;SOR=0.697	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1351	20	0	1	0
chr8	21999193	21999193	G	A	exonic	XPO7	.	nonsynonymous SNV	XPO7:NM_001362802:exon22:c.G2465A:p.S822N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.955	P	0.709	P	0.000	D	1.000	D	1.905	M	0.89	T	-0.905	T	0.195	T	0.324	4.332	22.8	5.83	2.774	9.865	19.782	0.366	0.0193655611723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.105e-06	4.104e-06	5.445e-06	2.751e-06	2.987e-05	1.48e-06	9.7e-07	3.85e-06	1.44e-06	2.987e-05	0	0	0	0	0	1.799e-06	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	0.37326	T	0.321	0.43913	T	0.116	0.54515	B	0.091	0.54472	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.385	0.34509	L	0.89	0.45636	T	-2.12	0.48184	N	0.758	0.75834	-0.9049	0.47458	T	0.195	0.54855	T	10	0.4181844	0.56684	T	0.019366	0.41714	T	0.366	0.68582	.	.	0.0675242888579	0.06100	0.7189786172465736	0.71840	0.898319418033	0.70545	0.868975818157	0.92421	D	0.08064	0.36411	T	-0.0883235	0.38354	T	-0.364647	0.37514	T	0.769714117050171	0.44422	D	0.918008	0.86020	D	0.27744275	0.50802	0.33122456	0.58984	0.27744275	0.50802	0.33122456	0.58983	-6.378	0.49338	T	.	.	0.474	0.65452	A	.;.;.	.;.;.	4.647295	0.74039	26.1	0.99733174582213135	0.82904	0.99450	0.96181	D	AEFDGBI	0.927666	0.91069	D	0.477599380253253	0.65783	4.866274	0.606459199714847	0.75407	6.305225	0.999999999999623	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.83	5.83	0.93059	10.003000	0.99689	11.905000	0.99459	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.782	0.96418	690	0.58899	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	4381.08	36	chr8	21999193	.	G	A	4381.08	.	AC=2;AF=0.048;AN=42;DP=836;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.07;SOR=0.707	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	1	0	0
chr8	22100890	22100890	G	A	exonic	FAM160B2	.	nonsynonymous SNV	FAM160B2:NM_001354250:exon12:c.G1531A:p.G511S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.016	B	0.006	B	0.278	N	0.501	N	0.55	N	2.69	T	-0.939	T	0.018	T	0.075	0.438	6.378	-0.525	-0.169	0.535	9.497	0.018	0.00232477962874	0.0003	0.00199681	0.0005	0.0015	0.0006	0.0002	0	0.0004	0	0.0006	0.0004722	73	154602	rs200904684	0.0003	0.0003	0.0002	0.0003	0.0035	0.0002	0.0002	0.0023	0.0019	0.0014	0.0005	3.826e-05	0.0001	5.631e-05	0.0035	0.0002	0.0005	0.0004	0.0006	0.0006	0.0005	0.0007	0.0014	0.0005	0.0004	0.0011	0.0010	0.0014	0	0.0005	0	0	0	0	0.0002	0.0014	0.0010	0.455	0.08865	T	0.758	0.04669	T	0.016	0.17332	B	0.006	0.12133	B	0.277791	0.15002	N	0.670284	0.50114	0.31724	N	1.01	0.25309	L	2.69	0.12268	T	0.35	0.03761	N	0.076	0.05037	-0.9393	0.42727	T	0.018	0.07470	T	10	0.0061944723	0.00140	T	0.002325	0.04479	T	0.018	0.03083	.	.	0.0666544352282	0.05500	0.19582762168203105	0.19499	0.0593556417927	0.06593	0.290980547667	0.09066	T	0.006295	0.05726	T	-0.657185	0.00065	T	-0.730008	0.04327	T	0.0017964364944043	0.00018	T	0.576842	0.20728	T	0.06854135	0.14940	0.03947984	0.04049	0.06854135	0.14940	0.03947984	0.04049	-2.487	0.05693	T	.	.	0.064	0.01622	B	.	.	0.238955	0.06193	2.644	0.68940781913110438	0.08815	0.21359	0.21373	N	AEFBI	0.102409	0.20544	N	-1.34149872574313	0.03214	0.1431783	-1.322530681306	0.04140	0.1946591	0.999712362579141	0.42101	0.722319	0.85440	0	0.702456	0.74545	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	5.59	-0.525	0.11321	0.705000	0.25350	-0.057000	0.12472	-0.667000	0.04321	0.084000	0.22438	0.000000	0.08366	0.001000	0.02609	0.4876:0.0:0.5124:0.0	9.497	0.38158	609	0.67094	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2457.98	41	chr8	22100890	.	G	A	2457.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.34;DP=1245;ExcessHet=0.0000;FS=1.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.17;ReadPosRankSum=-2.844e+00;SOR=0.554	GT:AD:DP:GQ:PL	0/0:60,0:60:99:0,120,1800	20	0	1	0
chr8	22128966	22128966	G	A	exonic	HR	.	nonsynonymous SNV	HR:NM_005144:exon2:c.C205T:p.P69S	Alopecia universalis, Autosomal recessive;Atrichia with papular lesions, Autosomal recessive;Hypotrichosis 4, Autosomal dominant	.	0	1518	4	0	0	4	0.00131579	.	.	700521	Alopecia_universalis_congenita|Atrichia_with_papular_lesions|not_provided	MONDO:MONDO:0008757,MedGen:C1859877,OMIM:203655,Orphanet:701|MONDO:MONDO:0008847,MedGen:C1859592,OMIM:209500,Orphanet:86819|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.97	D	0.558	P	0.000	D	0.750	N	0.975	L	-1.04	T	-0.494	T	0.304	T	0.171	2.305	13.67	2.95	1.242	0.887	6.247	0.250	0.112876543762	0.0032	0.00119808	0.0032	0.0013	0.0010	0	0.0005	0.0051	0.0022	0.0013	0.0033829	523	154602	rs78621054	0.0041	0.0041	0.0040	0.0041	0.0048	0.0040	0.0040	0.0047	0.0047	0.0007	0.0019	0.0049	0	0.0007	0.0014	0.0048	0.0035	0.0012	0.0033	0.0033	0.0034	0.0031	0.0056	0.0030	0.0029	0.0051	0.0049	0.0011	0	0.0018	0.0046	0	0.0008	0	0.0056	0.0057	0.0012	0.002	0.72154	D	0.063	0.46862	T	0.518	0.53479	P	0.197	0.49494	B	0.000399	0.44960	D	0.000000	0.750033	0.29647	N	1.935	0.51832	L	-1.04	0.76819	T	-1.77	0.48523	N	0.143	0.20660	-0.4936	0.68879	T	0.304	0.67519	T	10	0.005213022	0.00113	T	0.112877	0.79118	D	0.250	0.55888	.	.	0.781890309608	0.77987	0.4244157769453769	0.42358	0.182285795037	0.20492	0.338969171047	0.16284	T	0.171531	0.51969	T	-0.406894	0.02085	T	-0.355471	0.38575	T	0.0321359294420155	0.02327	T	0.742826	0.36203	T	0.14140585	0.32585	0.20665391	0.44889	0.12563503	0.29446	0.25754553	0.51472	-4.008	0.23923	T	.	.	0.082	0.13923	B	.;.	.;.	1.192078	0.15836	12.14	0.98610206724257632	0.43625	0.63247	0.32030	D	AEFDGBCI	0.213305	0.33890	N	-0.095966645408073	0.37570	2.187617	-0.0637433459907197	0.36901	2.153549	0.999974625569855	0.50053	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.8	2.95	0.33285	0.200000	0.17055	2.085000	0.30516	-0.126000	0.13398	0.099000	0.22773	1.000000	0.68203	0.450000	0.27895	0.0964:0.0:0.7207:0.183	6.247	0.20030	589	0.68969	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1368.98	39	chr8	22128966	.	G	A	1368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.366;DP=817;ExcessHet=0.0000;FS=1.503;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=0.095;SOR=0.900	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1411	20	0	1	0
chr8	22138686	22138686	G	A	exonic	REEP4	.	nonsynonymous SNV	REEP4:NM_025232:exon7:c.C661T:p.R221C,	.	.	418	1093	11	0	0	11	0.00500683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.004	B	0.001	B	0.000	D	1.000	D	1.935	M	-2.44	D	-0.169	T	0.478	T	0.458	3.455	17.70	4.13	1.116	2.044	6.406	0.332	.	0.0043	0.00359425	0.0055	0.0015	0.0033	0.0001	0.0014	0.0061	0.0044	0.0115	0.0055303	855	154602	rs117450750	0.0056	0.0056	0.0053	0.0058	0.0119	0.0055	0.0054	0.0113	0.0110	0.0007	0.0041	0.0026	5.038e-05	0.0015	0.0054	0.0058	0.0047	0.0119	0.0046	0.0046	0.0045	0.0047	0.0095	0.0043	0.0042	0.0073	0.0066	0.0015	0.0385	0.0073	0.0012	0	0.0005	0.0068	0.0062	0.0038	0.0095	0.001	0.78490	D	0.002	0.79402	D	0.004	0.12183	B	0.001	0.04355	B	0.000034	0.55875	D	0.000000	0.957518	0.51612	D	3.115	0.87836	M	-2.44	0.88767	D	-3.37	0.66665	D	0.609	0.62611	-0.1694	0.78443	T	0.478	0.80002	T	10	0.007106751	0.00162	T	.	.	.	0.332	0.65424	.	.	0.727179310058	0.72475	0.48868743946425386	0.48788	0.896211288583	0.70471	0.547908902168	0.45563	T	0.238315	0.60619	T	-0.218068	0.18257	T	-0.0756281	0.65221	T	0.0834535804151129	0.10423	T	0.910709	0.68343	D	0.42042944	0.62120	0.24099955	0.49487	0.42042944	0.62121	0.24099955	0.49486	-10.273	0.75530	D	.	.	0.324	0.54825	B	.	.	4.753819	0.76787	26.6	0.99890622921302064	0.96513	0.86785	0.46142	D	AEFBHCI	0.408690	0.48027	N	-0.210266376894166	0.32713	1.847808	-0.134069674508256	0.34026	1.952779	0.999971961124785	0.50053	0.722319	0.85440	0	0.702456	0.74545	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	5.0	4.13	0.47661	1.672000	0.37139	8.524000	0.77433	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.908000	0.44358	0.0932:0.0:0.7266:0.1802	6.406	0.20867	563	0.71062	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1701.98	33	chr8	22138686	.	G	A	1701.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.38;DP=826;ExcessHet=0.0000;FS=4.100;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.80;ReadPosRankSum=1.01;SOR=1.034	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr8	22163910	22163910	G	C	exonic	SFTPC	.	nonsynonymous SNV	SFTPC:NM_001317779:exon4:c.G304C:p.A102P	Surfactant metabolism dysfunction, pulmonary, 2, Autosomal dominant	.	0	1518	4	0	0	4	0.00131579	.	.	304877	not_specified|Interstitial_lung_disease_2|not_provided|Surfactant_metabolism_dysfunction,_pulmonary,_2	MedGen:CN169374|MONDO:MONDO:0800029,MedGen:C5561926,OMIM:178500,Orphanet:2032,Orphanet:79126|MedGen:C3661900|MONDO:MONDO:0024465,MedGen:C1970470,OMIM:610913	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.28	T	0.004	B	0.008	B	0.872	N	1.000	N	0.69	N	-1.31	T	-0.947	T	0.237	T	0.698	0.628	7.376	-2.78	-0.374	0.184	1.538	0.547	0.0545171781103	0.0002	0.000199681	0.0002	0	0.0002	0	0	0.0003	0	0.0004	0.0002199	34	154602	rs202145169	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	0	2.236e-05	0	0	0	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0001	0.0001	0.0002	8.655e-05	7.248e-05	0.0001	8.875e-05	2.404e-05	0	0.0002	0	0	0	0	0.0002	0.0009	0.0002	0.157	0.28395	T	0.246	0.40586	T	.	.	.	.	.	.	0.872432	0.07184	N	1.067260	1	0.08975	N	.	.	.	-1.31	0.79666	T	-1.33	0.41428	N	0.1	0.19055	-0.9471	0.41465	T	0.237	0.60451	T	10	0.0447284	0.03463	T	0.054517	0.65885	D	0.547	0.81193	.	.	0.593515057505	0.59029	0.6145508798823447	0.61387	0.577822155158	0.53695	0.328964650631	0.14777	T	0.025483	0.19048	T	-0.16086	0.26629	T	-0.152684	0.59006	T	0.00790225081601422	0.00093	T	0.549445	0.19782	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.19478	B	.;.;.;.	.;.;.;.	1.142976	0.15306	11.75	0.90113081400050943	0.19394	0.08522	0.14440	N	AEFDBI	0.367566	0.45498	N	-1.09176565298304	0.06794	0.3137763	-1.14816901127425	0.06801	0.3286011	0.999843778089155	0.43971	0.59774	0.34471	0	0.596491	0.49125	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.98	-2.78	0.05512	-0.180000	0.09747	1.415000	0.26314	0.671000	0.69459	0.000000	0.06391	0.002000	0.18203	0.075000	0.16954	0.1872:0.1191:0.2051:0.4886	1.538	0.02395	555	0.71762	BRICHOS domain|BRICHOS domain|BRICHOS domain;BRICHOS domain|BRICHOS domain|BRICHOS domain;BRICHOS domain|BRICHOS domain|BRICHOS domain;BRICHOS domain|BRICHOS domain|BRICHOS domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.02381	1710.98	36	chr8	22163910	.	G	C	1710.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.435;DP=1076;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.64;ReadPosRankSum=-4.650e-01;SOR=0.724	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr8	22179790	22179790	G	C	exonic	BMP1	.	nonsynonymous SNV	BMP1:NM_001199:exon7:c.G922C:p.G308R	Osteogenesis imperfecta, type XIII, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.001	U	1.000	D	2.325	M	-0.04	T	-0.095	T	0.456	T	0.95	5.159	32	5.67	2.666	9.864	18.534	0.696	0.102254108004	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1248749437	6.841e-07	6.84e-07	1.361e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.97372	D	0.001458	0.38980	U	0.000000	1	0.81001	D	2.315	0.66250	M	-0.04	0.63240	T	-7.52	0.95102	D	0.921	0.94786	-0.0949	0.80216	T	0.456	0.78802	T	10	0.899783	0.89338	D	0.102254	0.77562	D	0.696	0.89007	0.711	0.84691	0.752168414251	0.74992	0.9331998516143495	0.93298	1.34284182334	0.83896	0.912159800529	0.97671	D	0.514774	0.82916	D	0.288168	0.82003	D	0.273011	0.86742	D	0.995031833648682	0.86718	D	0.993001	0.97720	D	0.90485746	0.91821	0.93802875	0.97638	0.90485746	0.91822	0.93802875	0.97638	-14.355	0.94295	D	0.7702915178174516	0.85134	0.986	0.92530	P	.;.	.;.	5.630067	0.92667	32	0.99945259185394142	0.99886	0.99645	0.98295	D	AEFDBI	0.963967	0.98600	D	0.92799231179282	0.93062	11.79782	0.912437053831895	0.96091	14.29376	1.0	0.98316	0.706548	0.73137	0	0.588015	0.36545	0	0.688494	0.62686	0	0.714379	0.83352	0	.	.	5.67	5.67	0.87673	9.998000	0.99325	11.825000	0.97352	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:1.0:0.0	18.534	0.90957	579	0.69780	Peptidase M12A|Peptidase M12A|Tolloid/BMP1 peptidase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1296.98	35	chr8	22179790	.	G	C	1296.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.551;DP=822;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.21;ReadPosRankSum=-2.530e-01;SOR=0.680	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1472	20	0	1	0
chr8	22281502	22281502	G	A	exonic	PIWIL2	.	nonsynonymous SNV	PIWIL2:NM_001135721:exon4:c.G412A:p.V138I	.	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.001	B	0.001	B	0.529	N	1.000	N	0.205	N	3.68	T	-0.927	T	0.007	T	0.03	0.498	6.699	-1.04	-0.165	-0.426	0.333	0.067	.	.	0.00219649	0.0013	0	0	0	0	0	0.0033	0.0099	0.0011578	179	154602	rs544698493	0.0006	0.0006	0.0003	0.0009	0.0103	0.0006	0.0006	0.0097	0.0095	0	3.037e-05	0	2.565e-05	0	0.0002	1.087e-05	0.0005	0.0103	0.0004	0.0004	0.0002	0.0006	0.0116	0.0003	0.0003	0.0092	0.0083	0	0	0.0001	0	0	0	0	4.412e-05	0	0.0116	0.602	0.05601	T	0.769	0.05018	T	0.001	0.07471	B	0.001	0.04355	B	0.529317	0.11656	N	0.757107	0.999974	0.18612	N	0.55	0.14455	N	3.68	0.04151	T	-0.01	0.07155	N	0.173	0.22998	-0.9269	0.44588	T	0.007	0.02321	T	10	0.004895836	0.00104	T	.	.	.	0.067	0.19503	0.245	0.17984	0.21279746466	0.20884	0.14544534189663996	0.14467	0.0556849363162	0.06156	0.286973148584	0.08484	T	0.029606	0.21175	T	-0.746954	0.00019	T	-0.838048	0.01128	T	0.0131848413034316	0.00233	T	0.657134	0.26688	T	0.024846176	0.01357	0.023149146	0.00330	0.024846176	0.01357	0.023149146	0.00330	-4.332	0.28623	T	.	.	0.070	0.05800	B	.;.;.;.	.;.;.;.	0.923567	0.12983	9.491	0.71654255260329325	0.09703	0.02288	0.06590	N	AEFBI	0.057509	0.10717	N	-0.831040293555224	0.12521	0.6108683	-0.749022203022093	0.15747	0.8296911	0.0188757765572567	0.13105	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.55	-1.04	0.09555	-0.387000	0.07419	-2.067000	0.04263	0.671000	0.69459	0.001000	0.13787	0.000000	0.08366	0.996000	0.76049	0.3374:0.1583:0.2723:0.232	0.333	0.00300	575	0.70088	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2553.08	35	chr8	22281502	.	G	A	2553.08	.	AC=2;AF=0.048;AN=42;DP=786;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.39;SOR=1.347	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	1	0	0
chr8	22353100	22353100	G	C	exonic	PIWIL2	.	nonsynonymous SNV	PIWIL2:NM_001135721:exon21:c.G2545C:p.V849L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.767	P	0.444	B	0.000	D	0.999	D	1.68	L	1.48	T	-1.018	T	0.105	T	0.402	3.473	17.78	5.48	2.575	5.572	18.123	0.151	0.0102667385741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.36509	T	0.099	0.38891	T	0.767	0.43786	P	0.444	0.45865	B	0.000002	0.62929	D	0.057507	0.998915	0.45677	D	1.225	0.30651	L	1.48	0.31731	T	-1.63	0.39119	N	0.488	0.52829	-1.0175	0.24528	T	0.105	0.38513	T	10	0.4995092	0.61464	T	0.010267	0.26610	T	0.151	0.39764	0.69	0.82748	0.428169733428	0.42434	0.6322315523428895	0.63157	0.18827095744	0.21156	0.623541593552	0.56229	T	0.128665	0.45646	T	-0.109196	0.34900	T	-0.394629	0.34011	T	0.93945175409317	0.61093	D	0.941006	0.80130	D	0.2834384	0.51376	0.298382	0.55871	0.2834384	0.51376	0.298382	0.55870	-7.304	0.59313	T	.	.	0.531	0.70474	A	.;.;.;.	.;.;.;.	4.212012	0.63645	24.6	0.99629302583566037	0.75959	0.71455	0.35020	D	AEFGBHCI	0.786506	0.71657	D	0.427090335380195	0.62916	4.515727	0.511172329529918	0.68741	5.262071	1.0	0.98316	0.554377	0.28877	0	0.491513	0.07743	0	0.602189	0.34648	0	0.478617	0.07155	0	.	.	5.48	5.48	0.80675	5.826000	0.68980	11.676000	0.94162	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:1.0:0.0	18.123	0.89508	589	0.68969	Piwi domain|Piwi domain|Piwi domain;.;Piwi domain|Piwi domain|Piwi domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1807.98	146	chr8	22353100	.	G	C	1807.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.65;DP=842;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=1.23;SOR=0.646	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1191	20	0	1	0
chr8	22565871	22565871	G	A	exonic	SORBS3	.	nonsynonymous SNV	SORBS3:NM_005775:exon12:c.G949A:p.G317S,	.	.	.	.	.	.	.	.	.	0	0.01	.	.	.	.	.	.	.	.	.	.	.	.	.	0.97	T	0.001	B	0.001	B	0.567	N	1.000	D	0.345	N	3.46	T	-0.843	T	0.010	T	0.112	0.362	5.966	-3.44	-1.072	-2.081	11.318	0.014	0.045831474818	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1200832716	6.307e-06	2.668e-05	6.909e-06	5.651e-06	3.209e-05	2.62e-06	1.69e-06	2.3e-06	1.51e-06	0	0	0	0	0	0	6.407e-06	0	3.209e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	0.09486	T	0.866	0.03352	T	0.001	0.07471	B	0.001	0.04355	B	0.566583	0.05455	N	1.284550	0.999501	0.47320	D	1.32	0.33002	L	3.46	0.05249	T	0.7	0.02163	N	0.09	0.06854	-0.8432	0.52433	T	0.010	0.03811	T	10	0.051728457	0.05099	T	0.045831	0.62172	D	0.014	0.01968	0.268	0.21576	0.198526703765	0.19489	0.3406459683795566	0.33977	0.107717183507	0.12152	0.541002750397	0.44587	T	0.057827	0.30673	T	-0.361233	0.04061	T	-0.756662	0.03233	T	0.0598973944410682	0.07152	T	0.60384	0.22664	T	0.021705933	0.00788	0.06683596	0.13744	0.021705933	0.00787	0.06683596	0.13744	-2.245	0.04265	T	.	.	0.087	0.11027	B	.	.	0.040985	0.04573	1.253	0.93881319395771323	0.23898	0.00997	0.03780	N	AEFDGBHCI	0.033794	0.04074	N	-1.82187654903896	0.00494	0.02125356	-1.84934569369576	0.00614	0.02727069	0.999999994963353	0.74766	0.766844	0.99359	0	0.748881	0.99253	0	0.851219	0.99655	0	0.372554	0.06265	0	.	.	4.05	-3.44	0.04493	-0.516000	0.06367	-0.689000	0.07849	-1.227000	0.01331	0.000000	0.06391	0.000000	0.08366	0.051000	0.15275	0.1163:0.2764:0.6073:0.0	11.318	0.48642	839	0.37672	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	96.99	8	chr8	22565871	.	G	A	96.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.966;DP=309;ExcessHet=0.0000;FS=2.017;InbreedingCoeff=-0.0254;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.10;ReadPosRankSum=0.922;SOR=1.265	GT:AD:DP:GQ:PL	0/0:16,0:16:48:0,48,443	20	0	1	0
chr8	22571127	22571127	G	A	exonic	SORBS3	.	nonsynonymous SNV	SORBS3:NM_001018003:exon7:c.G623A:p.R208H	.	.	429	1076	14	3	0	20	0.0092081	.	.	736591	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.004	B	0.002	B	0.458	N	1.000	N	-0.035	N	3.24	T	-0.992	T	0.018	T	0.405	0.144	4.777	-1.37	-0.191	-0.120	5.441	0.028	0.00379105092033	0.0029	0.00139776	0.0023	0.0008	0.0017	0.0001	0.0012	0.0035	0.0012	0.0003	0.0024515	379	154602	rs34059820	0.0031	0.0031	0.0031	0.0031	0.0040	0.0030	0.0030	0.0035	0.0035	0.0005	0.0017	0.0010	2.522e-05	0.0012	0.0040	0.0036	0.0035	0.0005	0.0022	0.0022	0.0026	0.0018	0.0037	0.0020	0.0019	0.0033	0.0031	0.0007	0	0.0028	0.0009	0	0.0006	0.0068	0.0037	0.0014	0.0006	0.149	0.24758	T	0.124	0.35455	T	0.004	0.12183	B	0.002	0.06944	B	0.458360	0.12422	N	0.658159	1	0.08975	N	0.55	0.14455	N	3.24	0.14783	T	-0.47	0.15178	N	0.037	0.01203	-0.9917	0.32167	T	0.018	0.07376	T	10	0.0045835674	0.00095	T	0.003791	0.08837	T	0.037	0.09474	.	.	0.28058544554	0.27657	0.32226341383448587	0.32139	0.136299683777	0.15377	0.319998681545	0.13421	T	0.065093	0.32602	T	-0.538305	0.00343	T	-0.54717	0.17599	T	0.00203285094609773	0.00021	T	0.505249	0.25529	T	0.021743653	0.00794	0.017744385	0.00038	0.021743653	0.00794	0.017744385	0.00038	-3.678	0.19422	T	.	.	0.065	0.01909	B	.;.;.	.;.;.	0.597675	0.09663	6.433	0.97125673577235394	0.32473	0.10443	0.15949	N	AEFDBCI	0.082205	0.16642	N	-1.13940780157747	0.05956	0.2729308	-1.15917522011607	0.06605	0.318468	0.999720587285986	0.42220	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.76	-1.37	0.08582	-0.284000	0.08456	0.410000	0.18100	0.676000	0.76740	0.000000	0.06391	0.001000	0.17328	0.026000	0.12556	0.383:0.0:0.4823:0.1347	5.441	0.15809	851	0.35303	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	489.98	34	chr8	22571127	.	G	A	489.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.020e-01;DP=766;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=-2.170e-01;SOR=0.850	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1207	20	0	1	0
chr8	22579203	22579203	C	G	exonic	PDLIM2	.	nonsynonymous SNV	PDLIM2:NM_021630:exon1:c.C424G:p.R142G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	.	.	.	.	.	.	1.000	D	.	.	3.12	T	-1.045	T	0.029	T	0.05	0.400	6.174	4.11	1.069	0.153	11.226	0.051	0.116394088399	.	.	0.0020	0	0	0	.	0	0	0.0026	6.47e-05	10	154602	rs757530477	7.292e-05	7.798e-05	3.486e-05	0.0001	0.0012	6.033e-05	5.584e-05	0.0010	0.0009	0	0.0002	0	0	0	0	1.295e-05	0.0001	0.0012	3.292e-05	3.284e-05	1.287e-05	5.394e-05	0.0008	1.263e-05	7.99e-06	0.0003	0.0002	0	0	6.555e-05	0	0	0	0	0	0	0.0008	0.093	0.31532	T	0.189	0.28575	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.12	0.08106	T	0.21	0.04776	N	0.201	0.22228	-1.0449	0.15854	T	0.029	0.12585	T	6	0.009857386	0.00221	T	0.116394	0.79587	D	0.051	0.14325	0.238	0.16912	0.335414705075	0.33150	0.06725961895051882	0.06663	0.0974248291006	0.11002	0.763840258121	0.76502	T	.	.	.	-0.653603	0.00069	T	-0.757184	0.03214	T	0.0238708107466342	0.01129	T	0.325667	0.06705	T	.	.	.	.	.	.	.	.	-3.236	0.12926	T	.	.	0.085	0.09965	B	.;.	.;.	1.551373	0.19880	14.48	0.68043650060550465	0.08538	0.42871	0.26973	N	ALL	0.115680	0.22735	N	-0.384360093435654	0.26026	1.417276	-0.468378749097557	0.23029	1.253861	0.999999991938095	0.74766	0.652421	0.48094	0	0.748881	0.99253	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	5.01	4.11	0.47350	-0.001000	0.12880	0.657000	0.20469	0.517000	0.23534	0.000000	0.06391	0.000000	0.08366	0.540000	0.29938	0.0:0.8143:0.1857:0.0	11.226	0.48116	855	0.34697	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	395.98	21	chr8	22579203	.	C	G	395.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.483;DP=421;ExcessHet=0.0000;FS=1.356;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.00;ReadPosRankSum=0.090;SOR=0.826	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,650	20	0	1	0
chr8	22618717	22618717	A	T	exonic	CCAR2	.	nonsynonymous SNV	CCAR2:NM_001363068:exon18:c.A2318T:p.E773V	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.911	P	0.587	P	0.166	N	1.000	D	1.525	L	7.64	T	-0.714	T	0.231	T	0.725	2.164	13.19	5.97	2.281	4.378	12.839	0.200	0.0191005616374	0.0002	.	0.0001	0	8.645e-05	0	0	0.0003	0	0	0.0001552	24	154602	rs148552616	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0	8.944e-05	0	0	3.758e-05	0.0002	0.0004	0.0002	4.637e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.243e-05	0.0002	0.0001	7.241e-05	0	0.0001	0	0	0	0	0.0003	0.0005	0	0.038	0.49613	D	0.02	0.60337	D	0.567	0.50336	P	0.165	0.50368	B	0.166267	0.17509	N	0.588384	0.886262	0.38770	D	1.525	0.38595	L	7.64	0.00350	T	-2.76	0.67014	D	0.417	0.51761	-0.7137	0.59771	T	0.231	0.59719	T	10	0.22674897	0.39538	T	0.019101	0.41369	T	0.205	0.49236	.	.	0.409859612472	0.40601	0.5529503573762466	0.55221	0.226598177082	0.25209	0.435814201832	0.30004	T	0.434995	0.78188	T	-0.204167	0.20205	T	-0.223631	0.52386	T	0.205322984583608	0.20706	T	0.864713	0.56210	D	0.1321704	0.30785	0.102173455	0.24481	0.1321704	0.30785	0.102173455	0.24480	-7.096	0.54732	T	.	.	0.234	0.52293	B	.;.;.;.	.;.;.;.	3.881232	0.56413	23.7	0.97965287417514091	0.37209	0.94405	0.61061	D	AEFBCI	0.687731	0.64898	D	0.217256695686896	0.52036	3.380369	0.270604539578497	0.53831	3.550179	0.999999832072361	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.702456	0.68683	0	0.733575	0.97253	0	.	.	5.97	5.97	0.96935	5.892000	0.69531	11.197000	0.88883	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.075000	0.16954	1.0:0.0:0.0:0.0	12.839	0.57175	901	0.24189	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1505.98	34	chr8	22618717	.	A	T	1505.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.850e-01;DP=847;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=-1.443e+00;SOR=0.733	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1056	20	0	1	0
chr8	22927629	22927629	G	T	exonic	PEBP4	.	nonsynonymous SNV	PEBP4:NM_001363233:exon2:c.C86A:p.P29Q	.	.	422	1099	1	0	0	1	0.000454752	.	.	2359649	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.3	T	0.638	P	0.162	B	0.000	N	1.000	N	0.55	N	1.58	T	-1.067	T	0.040	T	0.242	0.844	8.412	-2.57	-0.428	-1.556	4.543	0.051	0.00316812473726	0.0003	.	0.0003	0.0002	8.639e-05	0	0	0.0004	0.0011	0.0004	0.0002975	46	154602	rs202161701	0.0002	0.0002	0.0002	0.0002	0.0031	0.0002	0.0002	0.0020	0.0017	0	6.714e-05	0.0010	0	7.489e-05	0.0031	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	7.218e-05	0	0.0001	0.0003	0	9.416e-05	0	0.0004	0	0	0.488	0.37750	T	0.196	0.27943	T	0.638	0.40359	P	0.162	0.34839	B	0.000020	0.00348	N	4.861360	1	0.08975	N	1.39	0.34934	L	1.58	0.29085	T	-0.13	0.81755	N	0.201	0.22228	-1.0669	0.10108	T	0.040	0.17277	T	10	0.04541698	0.03610	T	0.003168	0.06936	T	0.051	0.14325	.	.	0.0482279557977	0.04254	0.502018448063356	0.50123	0.0177872479839	0.01741	0.195610702038	0.00341	T	0.001352	0.00824	T	-0.480264	0.00736	T	-0.617124	0.11412	T	0.00947618257961789	0.00122	T	0.309669	0.06003	T	0.027183503	0.01876	0.04295759	0.05234	0.027183503	0.01875	0.04295759	0.05234	-4.008	0.23923	T	.	.	0.081	0.36693	B	.;.	.;.	-1.701731	0.00194	0.003	0.4783220838292308	0.03942	0.02710	0.07363	N	AEFBI	0.121722	0.23653	N	-1.13482947902364	0.06033	0.2766741	-1.26192256751197	0.04956	0.2350681	0.525530775857871	0.21133	0.516011	0.20929	0	0.610034	0.51514	0	0.608075	0.38828	0	0.530356	0.10902	0	.	.	4.12	-2.57	0.05885	-1.441000	0.02516	-0.432000	0.09215	-2.840000	0.00175	0.000000	0.06391	0.003000	0.18671	0.000000	0.00833	0.5432:0.0:0.291:0.1657	4.543	0.11466	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1209.98	33	chr8	22927629	.	G	T	1209.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.95;DP=1004;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=-4.680e-01;SOR=0.675	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	20	0	1	0
chr8	23202698	23202698	T	G	exonic	TNFRSF10A	.	nonsynonymous SNV	TNFRSF10A:NM_003844:exon3:c.A467C:p.N156T,	.	.	419	1102	0	1	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.094	B	0.101	B	0.038	U	1.000	N	1.01	L	-2.79	D	-0.709	T	0.461	T	0.027	-2.509	0.003	-6.96	-3.562	-1.849	13.510	0.258	0.125756048256	.	.	3.295e-05	0	0	0	0	5.994e-05	0	0	2.59e-05	4	154602	rs532602797	8.209e-06	8.209e-06	5.445e-06	1.1e-05	2.319e-05	4.38e-06	3.46e-06	3.85e-06	2.24e-06	0	0	0	0	0	0	7.195e-06	3.312e-05	2.319e-05	5.254e-05	5.249e-05	5.14e-05	5.373e-05	7.351e-05	2.556e-05	1.829e-05	2.847e-05	1.858e-05	4.814e-05	0	0	0	0	0	0	7.351e-05	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.094	0.25382	B	0.101	0.30765	B	0.037669	0.24374	U	0.389346	1	0.08975	N	1.245	0.31408	L	-2.79	0.91019	D	-1.17	0.29933	N	0.194	0.21319	-0.7087	0.60016	T	0.461	0.79072	T	10	0.048472166	0.04302	T	0.125756	0.80732	D	0.258	0.56959	0.371	0.38176	0.207176502487	0.20327	0.4410661694625493	0.44023	0.0717915256234	0.08045	0.281954586506	0.07767	T	0.088998	0.38279	T	-0.292464	0.09389	T	-0.52743	0.19543	T	0.0629354845365314	0.07622	T	0.308669	0.05963	T	0.1753728	0.38392	0.13961543	0.33306	0.1753728	0.38392	0.13961543	0.33305	-7.021	0.54187	T	.	.	0.161	0.35581	B	.	.	-1.837897	0.00145	0.002	0.39413969708547042	0.02718	0.01584	0.05157	N	AEFDBHI	0.024214	0.01464	N	-2.08624935699161	0.00137	0.005874685	-2.21742680832755	0.00102	0.004496173	0.999999737660593	0.74766	0.706298	0.61202	0	0.546412	0.12157	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.48	-6.96	0.01465	-2.064000	0.01475	-20.000000	0.00162	-1.435000	0.01110	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6628:0.2088:0.1283	13.510	0.60964	772	0.48957	TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|Tumor necrosis factor receptor 10, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2765.98	38	chr8	23202698	.	T	G	2765.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.389;DP=905;ExcessHet=0.0000;FS=1.085;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.49;ReadPosRankSum=0.670;SOR=0.586	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr8	23249347	23249347	C	T	exonic	CHMP7	.	nonsynonymous SNV	CHMP7:NM_001317899:exon2:c.C107T:p.A36V	.	.	427	1077	17	1	0	19	0.00874367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.003	B	0.001	B	0.083	N	1.000	N	-0.345	N	0.33	T	-1.055	T	0.075	T	0.138	-0.498	1.717	4.66	1.341	1.255	7.057	0.037	0.012568833314	0.0009	0.00159744	0.0015	0.0002	0.0003	0	0	0.0011	0.0023	0.0070	0.001313	203	154602	rs149327190	0.0010	0.0010	0.0008	0.0012	0.0066	0.0009	0.0009	0.0062	0.0060	5.998e-05	0.0005	0.0023	5.061e-05	1.875e-05	0.0038	0.0006	0.0013	0.0066	0.0007	0.0007	0.0007	0.0007	0.0060	0.0006	0.0006	0.0043	0.0037	0.0002	0	0.0005	0.0020	0	9.427e-05	0	0.0008	0.0005	0.0060	0.261	0.16520	T	0.586	0.08332	T	0.003	0.11197	B	0.001	0.04355	B	0.083396	0.20756	N	0.519807	0.999726	0.20581	N	-1.04	0.01097	N	0.33	0.58323	T	-0.47	0.15178	N	0.121	0.11197	-1.0553	0.12961	T	0.075	0.30242	T	10	0.006122589	0.00138	T	0.012569	0.31260	T	0.037	0.09474	.	.	0.478353003129	0.47464	0.1985158102354756	0.19768	0.613198805805	0.55896	0.357447326183	0.19013	T	0.034475	0.23338	T	-0.527984	0.00395	T	-0.527603	0.19526	T	0.0113071901522522	0.00167	T	0.812919	0.46506	T	0.06704443	0.14481	0.063062795	0.12434	0.06704443	0.14480	0.063062795	0.12434	-3.978	0.23473	T	.	.	0.087	0.11220	B	.;.	.;.	2.024612	0.25732	16.87	0.2089172450394704	0.00772	0.47149	0.27918	N	AEFDBCI	0.084966	0.17222	N	-0.510480017359591	0.21740	1.155969	-0.310405356382386	0.27761	1.542788	0.999994355004378	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.54	4.66	0.57857	1.272000	0.32712	4.871000	0.45567	0.547000	0.25779	0.593000	0.27690	1.000000	0.68203	0.934000	0.47231	0.2635:0.6543:0.0:0.0822	7.057	0.24283	760	0.50470	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2877.98	36	chr8	23249347	.	C	T	2877.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.216e+00;DP=944;ExcessHet=0.0000;FS=6.563;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=1.60;SOR=0.609	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr8	23316985	23316985	C	T	exonic	LOXL2	.	nonsynonymous SNV	LOXL2:NM_002318:exon9:c.G1600A:p.G534R,	.	.	211	1309	2	0	0	2	0.000763359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.979	D	0.000	D	1.000	D	1.825	L	1.54	T	-1.036	T	0.038	T	0.716	4.926	28.5	5.39	2.678	4.960	18.097	0.238	.	0.0012	0.014377	0.0134	0.0021	0.0942	0.0142	0.0353	0.0020	0.0170	0.0006	0.0120309	1860	154602	rs149587418	0.0046	0.0046	0.0050	0.0041	0.0795	0.0045	0.0045	0.0773	0.0764	0.0011	0.0795	0	0.0160	0.0333	0.0002	0.0003	0.0048	0.0011	0.0092	0.0092	0.0071	0.0114	0.0465	0.0088	0.0086	0.0436	0.0425	0.0024	0	0.0465	0	0.0164	0.0380	0	0.0011	0.0061	0.0017	0.003	0.68238	D	0.11	0.37310	T	0.939	0.52645	P	0.889	0.63100	P	0.000001	0.84330	D	0.093979	1	0.81001	D	0.88	0.21560	L	1.54	0.30133	T	-5.72	0.87531	D	0.245	0.27673	-1.0364	0.18419	T	0.038	0.16333	T	10	0.0035539567	0.00064	T	.	.	.	0.238	0.54217	0.451	0.51285	.	.	0.7230398605622168	0.72247	0.653833512896	0.58498	0.488958775997	0.37293	T	0.148974	0.48777	T	-0.341065	0.05315	T	-0.196748	0.54955	T	0.0431123634363572	0.04258	T	0.846915	0.52723	T	0.7075414	0.78472	0.6326163	0.78563	0.7075414	0.78473	0.6326163	0.78564	-10.181	0.74988	D	.	.	0.139	0.30450	B	.	.	4.254742	0.64612	24.7	0.99913626150655943	0.98238	0.95563	0.65220	D	AEFDBCI	0.773006	0.70715	D	0.508428002978768	0.67586	5.101513	0.434498221282481	0.63726	4.612409	0.999999999999999	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.591603	0.36755	0	.	.	5.39	5.39	0.77615	5.038000	0.63972	0.408000	0.18078	0.587000	0.30956	0.983000	0.35670	0.000000	0.08366	0.734000	0.35233	0.0:1.0:0.0:0.0	18.097	0.89422	713	0.56348	SRCR domain|SRCR domain|SRCR-like domain	.	.	.	.	rs149587418	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1348.98	42	chr8	23316985	.	C	T	1348.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.56;DP=961;ExcessHet=0.0000;FS=0.806;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=-1.501e+00;SOR=0.591	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1530	20	0	1	0
chr8	23448806	23448806	A	G	exonic	ENTPD4	.	nonsynonymous SNV	ENTPD4:NM_001128930:exon3:c.T142C:p.Y48H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.98	D	0.804	P	0.000	D	0.999	D	1.59	L	2.49	T	-1.130	T	0.071	T	0.725	3.855	19.58	5.47	2.070	4.487	10.530	0.226	0.00961120009591	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs572899371	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	1.969e-05	1.968e-05	1.285e-05	2.685e-05	7.217e-05	5.24e-06	2.45e-06	1.914e-05	1.03e-05	7.217e-05	0	0	0	0	0	0	0	0	0	0.014	0.65419	D	0.066	0.61642	T	0.966	0.59353	D	0.73	0.58350	P	0.000012	0.62929	D	0.119868	0.999221	0.46379	D	2.135	0.59519	M	2.47	0.14783	T	-2.07	0.47344	N	0.789	0.78546	-1.1296	0.01801	T	0.071	0.28773	T	10	0.41538587	0.56506	T	0.009611	0.25130	T	0.226	0.52472	0.576	0.70087	0.285698343383	0.28168	0.7260984624006555	0.72553	0.495345177098	0.48073	0.613367080688	0.54792	T	0.038213	0.40193	T	0.0231083	0.54800	T	-0.204583	0.54212	T	0.856589555740356	0.50742	D	0.888511	0.61827	D	0.15670556	0.35349	0.16465944	0.38132	0.15670556	0.35349	0.16465944	0.38131	-5.421	0.41971	T	.	.	0.413	0.60582	A	.;.;.;.	.;.;.;.	4.177536	0.62865	24.5	0.99834296748733842	0.91542	0.95188	0.63763	D	AEBI	0.489202	0.52721	N	0.528889332827991	0.68806	5.268122	0.552196596313538	0.71551	5.67199	0.999990197448612	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	4.697000	0.61467	11.147000	0.87239	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.8378:0.1622:0.0:0.0	10.530	0.44161	820	0.40914	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1609.98	34	chr8	23448806	.	A	G	1609.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.930e-01;DP=818;ExcessHet=0.0000;FS=0.679;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.09;ReadPosRankSum=0.089;SOR=0.811	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr8	23529058	23529058	G	C	exonic	SLC25A37	.	nonsynonymous SNV	SLC25A37:NM_016612:exon1:c.G56C:p.G19A,	.	.	389	1117	16	0	0	16	0.00711111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.93	P	0.475	P	0.004	N	0.963	D	0.695	N	-1.01	T	-0.716	T	0.255	T	0.477	2.880	15.59	3.86	1.372	5.476	8.922	0.318	.	.	.	0.0027	0.0005	0.0060	0	0	0.0040	0.0142	0.0010	0.0008603	133	154602	rs200459609	0.0009	0.0009	0.0009	0.0010	0.0257	0.0009	0.0009	0.0223	0.0210	0.0003	0.0016	0.0099	0	5.994e-05	0.0257	0.0006	0.0019	0.0014	0.0010	0.0010	0.0010	0.0009	0.0021	0.0009	0.0008	0.0015	0.0013	0.0002	0	0.0021	0.0101	0	0	0.0171	0.0009	0.0028	0.0006	0.13	0.26740	T	0.224	0.25591	T	0.734	0.42776	P	0.138	0.33406	B	0.003680	0.34636	N	0.246987	0.962674	0.38304	D	0.805	0.20218	L	-1.01	0.76168	T	-0.6	0.17834	N	0.373	0.41459	-0.7164	0.59639	T	0.255	0.62575	T	10	0.0068131685	0.00155	T	.	.	.	0.318	0.64008	.	.	0.745232050416	0.74294	0.17578501024551194	0.17497	0.936360437383	0.72034	0.768285036087	0.77169	T	0.045788	0.27230	T	-0.265721	0.12238	T	-0.184545	0.56100	T	0.102972446768267	0.12681	T	0.816218	0.47186	T	0.17310637	0.38040	0.27671754	0.53619	0.17310637	0.38040	0.27671754	0.53618	-4.198	0.26722	T	.	.	0.093	0.14201	B	.	.	3.904529	0.56897	23.8	0.98253269564361456	0.39594	0.72977	0.35704	D	ALL	0.554127	0.56510	D	0.0984579257895524	0.46391	2.880142	0.184301842967826	0.48985	3.107453	0.999999999999906	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.73	3.86	0.43689	5.090000	0.64332	6.436000	0.55643	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1013:0.0:0.8987:0.0	8.922	0.34778	820	0.40914	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	755.98	35	chr8	23529058	.	G	C	755.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.46;DP=772;ExcessHet=0.0000;FS=4.845;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.50;ReadPosRankSum=0.853;SOR=1.320	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1153	20	0	1	0
chr8	23682862	23682862	C	G	exonic	NKX3-1	.	nonsynonymous SNV	NKX3-1:NM_001256339:exon1:c.G28C:p.G10R	.	.	283	1219	19	1	0	21	0.00854006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.003	B	0.004	B	0.009	N	1.000	N	0.695	N	-2.7	D	-0.444	T	0.437	T	0.144	3.467	17.75	-0.838	-0.448	0.311	9.973	0.205	.	.	0.00159744	0.0039	0.0050	0	0	0.0455	0.0045	0	0.0037	0.001119	173	154602	rs199879315	0.0038	0.0036	0.0039	0.0037	0.0059	0.0037	0.0036	0.0041	0.0040	0.0004	0.0020	8.706e-05	0	0.0038	0.0059	0.0042	0.0038	0.0026	0.0025	0.0025	0.0028	0.0023	0.0042	0.0023	0.0022	0.0038	0.0037	0.0006	0	0.0018	0	0	0.0025	0.0137	0.0042	0.0024	0.0021	0.134	0.56456	T	0.099	0.38891	T	0.003	0.11197	B	0.004	0.10090	B	0.008725	0.01216	N	4.460320	1	0.08975	N	1.245	0.31408	L	-2.7	0.91643	D	-1.01	0.26639	N	0.114	0.10340	-0.4440	0.70598	T	0.437	0.77663	T	10	0.0044508576	0.00091	T	.	.	.	0.205	0.49236	0.196	0.10839	0.817378622091	0.81565	0.19839726917081543	0.19756	0.843248174428	0.68164	0.675098955631	0.63566	T	0.09831	0.40201	T	-0.383331	0.02968	T	-0.322727	0.42274	T	0.0694187926280806	0.08570	T	0.461754	0.13398	T	0.06653287	0.14324	0.110001214	0.26519	0.06653287	0.14324	0.110001214	0.26519	-3.88	0.22002	T	.	.	0.110	0.21049	B	.;.	.;.	1.568187	0.20082	14.58	0.98761231855630283	0.45816	0.20371	0.21016	N	ALL	0.091290	0.18492	N	-1.17562686390958	0.05370	0.2446397	-1.21933654477296	0.05599	0.267248	0.999997869941008	0.74766	0.437478	0.07067	0	0.552344	0.17405	0	0.503968	0.08637	0	0.603991	0.37454	0	.	.	4.65	-0.838	0.10218	-0.945000	0.04019	-0.451000	0.09099	0.524000	0.24156	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.3611:0.5543:0.0846	9.973	0.40939	783	0.47268	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	168.98	35	chr8	23682862	.	C	G	168.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.700e-02;DP=776;ExcessHet=0.0000;FS=1.519;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.97;ReadPosRankSum=-3.610e-01;SOR=1.179	GT:AD:DP:GQ:PL	0/1:22,12:34:99:183,0,480	20	0	1	0
chr8	24323989	24323989	T	G	exonic	ADAM28	.	nonsynonymous SNV	ADAM28:NM_001304351:exon9:c.T876G:p.I292M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.977	D	0.858	P	.	.	0.960	N	1.5	L	2.91	T	-1.086	T	0.039	T	0.34	2.162	13.18	-5.83	-1.415	-0.152	6.614	0.201	0.00972800318876	.	.	6.638e-05	0	0	0	0	0	0	0.0005	5.17e-05	8	154602	rs771447528	2.055e-05	2.052e-05	1.227e-05	2.892e-05	0.0003	1.458e-05	1.265e-05	0.0002	0.0002	0	0	0	0	0	0	0	3.319e-05	0.0003	1.973e-05	1.969e-05	2.573e-05	1.345e-05	0.0004	5.25e-06	2.46e-06	7.293e-05	3.03e-05	2.407e-05	0	0	0	0	0	0	0	0	0.0004	0.146	0.49613	T	0.163	0.31125	T	0.977	0.58535	D	0.858	0.61127	P	.	.	.	.	0.959813	0.26171	N	2.215	0.62545	M	2.91	0.10008	T	0.08	0.06739	N	0.485	0.51940	-1.0857	0.06281	T	0.039	0.16677	T	9	0.26112694	0.43568	T	0.009728	0.25404	T	0.201	0.48592	0.607	0.73945	0.154104182512	0.14974	0.5707424925897375	0.57002	0.25701354524	0.28266	0.32545799017	0.14246	T	0.009192	0.08381	T	-0.438198	0.01325	T	-0.545251	0.17784	T	0.127775248542176	0.15174	T	0.830717	0.49671	T	0.124038845	0.29113	0.1331205	0.31929	0.124038845	0.29113	0.1331205	0.31928	-6.403	0.49603	T	.	.	0.121	0.36053	B	.;.	.;.	1.615325	0.20636	14.84	0.97137978851349127	0.32529	0.45495	0.27551	N	AEFBI	0.182791	0.31012	N	-0.652673860953593	0.17383	0.8939999	-0.839211379111115	0.13547	0.7033713	8.141180957962E-4	0.07857	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.41	-5.83	0.02134	-0.453000	0.06853	-0.991000	0.06679	-0.703000	0.04025	0.771000	0.29368	0.002000	0.18203	0.591000	0.31164	0.0:0.4051:0.2605:0.3344	6.614	0.21963	684	0.59539	Peptidase M12B, ADAM/reprolysin|Peptidase M12B, ADAM/reprolysin|Reprolysin domain, adamalysin-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1149.98	34	chr8	24323989	.	T	G	1149.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.626e+00;DP=779;ExcessHet=0.0000;FS=0.987;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.20;ReadPosRankSum=-1.588e+00;SOR=0.530	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr8	24394131	24394131	C	T	exonic	ADAMDEC1	.	nonsynonymous SNV	ADAMDEC1:NM_001145272:exon3:c.C110T:p.T37M	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.982	D	0.667	N	1.000	N	2.745	M	3.32	T	-1.093	T	0.062	T	0.116	1.115	9.548	1.37	0.341	-0.182	9.691	0.064	0.0112690887537	.	0.00139776	0.0010	0	0	0	0.0005	0.0002	0.0022	0.0065	0.0008797	136	154602	rs201994292	0.0005	0.0005	0.0003	0.0006	0.0059	0.0004	0.0004	0.0054	0.0053	8.978e-05	0	0	0.0003	0.0005	0.0009	9.548e-05	0.0004	0.0059	0.0003	0.0003	0.0001	0.0004	0.0070	0.0002	0.0002	0.0052	0.0045	0	0	6.54e-05	0	0	0.0004	0	5.882e-05	0	0.0070	0.034	0.44694	D	0.005	0.72224	D	1.0	0.90584	D	0.982	0.75477	D	0.666723	0.10379	N	0.840931	1	0.08975	N	3.18	0.88827	M	3.32	0.06214	T	-4.48	0.77965	D	0.125	0.13198	-1.0929	0.05066	T	0.062	0.25780	T	10	0.006286919	0.00142	T	0.011269	0.28723	T	0.064	0.18567	.	.	0.397691132334	0.39381	0.46962166258635507	0.46881	0.348307638537	0.36705	0.256526768208	0.04485	T	0.052186	0.29091	T	-0.618821	0.00112	T	-0.65878	0.08349	T	0.245133193300279	0.22654	T	0.440756	0.12177	T	0.077936254	0.17718	0.13298295	0.31899	0.077936254	0.17718	0.13298295	0.31898	-6.494	0.51501	T	.	.	0.091	0.20857	B	.;.	.;.	1.292693	0.16934	12.86	0.99527021903719615	0.69591	0.03447	0.08590	N	AEFBI	0.120239	0.23432	N	-0.253498013086559	0.30963	1.731589	-0.503233056028406	0.22065	1.196643	1.43755596042531E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.46	1.37	0.21200	-0.220000	0.09220	-0.213000	0.10835	-0.981000	0.01897	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:0.5135:0.3995:0.087	9.691	0.39293	789	0.46346	Peptidase M12B, propeptide;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2493.08	42	chr8	24394131	.	C	T	2493.08	.	AC=2;AF=0.048;AN=42;DP=783;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.40;SOR=0.846	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1318	20	1	0	0
chr8	24442522	24442522	G	T	exonic	ADAM7	.	nonsynonymous SNV	ADAM7:NM_003817:exon2:c.G102T:p.K34N,	.	.	421	1096	5	0	0	5	0.00227583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.922	P	0.742	P	0.492	N	1.000	N	2.575	M	3.22	T	-1.077	T	0.047	T	0.081	1.444	10.77	1.43	0.303	0.700	5.864	0.056	0.00536651275596	0.0002	0.000599042	0.0003	0.0003	0.0003	0	0.0003	0.0003	0	0.0003	0.0002458	38	154602	rs146117431	0.0004	0.0004	0.0004	0.0004	0.0062	0.0004	0.0004	0.0046	0.0041	0.0003	0.0005	0	0	0.0002	0.0062	0.0004	0.0007	0.0002	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	0.0002	0	6.542e-05	0	0	9.429e-05	0.0068	0.0004	0.0028	0.0002	0.027	0.63226	D	0.014	0.72224	D	0.922	0.51142	P	0.742	0.55764	P	0.492338	0.12043	N	0.737317	0.999999	0.08975	N	2.655	0.77738	M	3.22	0.07024	T	-3.51	0.68298	D	0.257	0.34767	-1.0768	0.07983	T	0.047	0.20195	T	10	0.05808127	0.06773	T	0.005367	0.13771	T	0.056	0.15993	0.731	0.86460	0.388812400583	0.38497	0.4512355964274962	0.45041	0.306425813064	0.32941	0.399008542299	0.24931	T	0.088831	0.43789	T	-0.53019	0.00383	T	-0.665208	0.07919	T	0.0554332700838893	0.06429	T	0.693931	0.30359	T	0.22774166	0.45480	0.19811907	0.43629	0.22774166	0.45480	0.19811907	0.43628	-5.604	0.53698	T	.	.	0.639	0.70478	P	.;.;.	.;.;.	2.383390	0.30594	18.49	0.99554569252469893	0.71335	0.06663	0.12681	N	AEFI	0.039053	0.05619	N	-0.173834730936027	0.34227	1.951068	-0.404993636500972	0.24850	1.36314	1.5213647629851E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.33	1.43	0.21585	0.722000	0.25595	0.691000	0.20763	0.671000	0.69459	0.034000	0.20669	0.120000	0.22892	0.636000	0.32315	0.359:0.0:0.641:0.0	5.864	0.18016	852	0.35056	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3643.11	38	chr8	24442522	.	G	T	3643.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.703e+00;DP=957;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=1.77;SOR=0.710	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1150	19	0	2	0
chr8	24955934	24955934	T	G	exonic	NEFL	.	nonsynonymous SNV	NEFL:NM_006158:exon1:c.A582C:p.E194D,	Charcot-Marie-Tooth disease, type 1F, Autosomal recessive, Autosomal dominant;Charcot-Marie-Tooth disease, type 2E, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	458365	Inborn_genetic_diseases|Charcot-Marie-Tooth_disease|not_provided|Charcot-Marie-Tooth_disease_type_2E|NEFL-related_disorder	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166|MedGen:C3661900|MONDO:MONDO:0011894,MedGen:C1843225,OMIM:607684,Orphanet:99939|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0015	0.0001	0	0.0001	0	0	0	0.0103	0.0011707	181	154602	rs532240912	0.0006	0.0006	0.0003	0.0008	0.0089	0.0005	0.0005	0.0084	0.0082	0	0	0	0.0001	0	0.0003	2.699e-06	0.0005	0.0089	0.0003	0.0003	0.0001	0.0004	0.0081	0.0002	0.0002	0.0061	0.0054	0	0	0	0	0.0002	0	0	0	0	0.0081	.	.	.	0.566	0.09795	T	0.011	0.15914	B	0.034	0.22546	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.25130	.	.	.	.	.	.	.	0.003864497	0.00073	T	.	.	.	.	.	.	.	0.631214040921	0.62819	0.16812547825081312	0.16732	.	.	0.607451558113	0.53955	T	0.501908	0.82193	D	-0.41169	0.01937	T	-0.357176	0.38378	T	.	.	.	0.851615	0.64352	D	0.09893577	0.23343	0.23498616	0.48731	0.12171747	0.28617	0.2312559	0.48251	-4.21	0.26896	T	0.09088511828008128	0.05707	0.142	0.31228	B	.;.;.	.;.;.	1.546717	0.19829	14.46	0.80751191223715013	0.13351	0.11297	0.16540	N	AEFDBHCIJ	.	.	.	.	.	.	.	.	.	0.999996969293743	0.74766	0.255962	0.04286	0	0.085267	0.02369	0	0.217501	0.04623	0	0.109499	0.03221	0	0.375623	0.36976	5.79	-3.86	0.03951	-2.411000	0.01117	-2.436000	0.03756	-0.204000	0.08590	0.000000	0.06391	0.000000	0.08366	0.996000	0.76049	0.0967:0.4498:0.0:0.4535	8.361	0.31520	898	0.25240	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2040.98	38	chr8	24955934	.	T	G	2040.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.494e+00;DP=969;ExcessHet=0.0000;FS=2.046;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.25;ReadPosRankSum=-1.448e+00;SOR=0.903	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	20	0	1	0
chr8	25317094	25317094	C	T	exonic	DOCK5	.	nonsynonymous SNV	DOCK5:NM_024940:exon14:c.C1406T:p.T469M,	.	.	427	1087	7	1	0	9	0.00412277	.	.	700534	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.98	D	0.000	D	1.000	D	2.445	M	2.28	T	-0.982	T	0.101	T	0.711	2.656	14.84	5.49	2.601	4.392	19.474	0.206	0.026776790241	0.0061	0.00179712	0.0055	0.0012	0.0035	0	0.0026	0.0077	0.0088	0.0043	0.0054333	840	154602	rs61732769	0.0079	0.0079	0.0081	0.0076	0.0088	0.0077	0.0077	0.0086	0.0086	0.0013	0.0031	0.0188	2.519e-05	0.0025	0.0047	0.0088	0.0081	0.0046	0.0052	0.0052	0.0058	0.0046	0.0080	0.0049	0.0048	0.0074	0.0072	0.0013	0	0.0052	0.0176	0.0002	0.0025	0	0.0080	0.0052	0.0029	0.032	0.44694	D	0.004	0.74150	D	0.999	0.77913	D	0.98	0.74843	D	0.000004	0.62929	D	0.105597	0.998044	0.44449	D	2.42	0.70002	M	2.28	0.17271	T	-3.06	0.63090	D	0.719	0.72120	-0.9815	0.34655	T	0.101	0.37518	T	10	0.011892885	0.00258	T	0.026777	0.49657	D	0.206	0.49396	.	.	0.32053947749	0.31673	0.4770788980847879	0.47627	0.366053922904	0.38189	0.623646616936	0.56244	T	0.298801	0.67135	T	-0.326612	0.06371	T	-0.236383	0.51152	T	0.00883096115124356	0.00109	T	0.936606	0.76191	D	0.14248607	0.32787	0.17813568	0.40462	0.14248607	0.32787	0.17813568	0.40461	-6.774	0.52365	T	.	.	0.077	0.06433	B	.	.	4.416890	0.68379	25.2	0.99857726923541101	0.93639	0.94854	0.62560	D	AEFGBI	0.555407	0.56586	D	0.632041184979908	0.75210	6.266125	0.55337887573572	0.71634	5.68459	0.999999602202578	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.49	5.49	0.81022	4.401000	0.59475	7.639000	0.63104	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.528000	0.29660	0.0:1.0:0.0:0.0	19.474	0.94971	416	0.81733	DHR-1 domain|DHR-1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	692.98	39	chr8	25317094	.	C	T	692.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.130e-01;DP=900;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.62;ReadPosRankSum=0.673;SOR=0.613	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	20	0	1	0
chr8	25336285	25336285	T	C	exonic	DOCK5	.	nonsynonymous SNV	DOCK5:NM_024940:exon22:c.T2239C:p.S747P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.0	B	0.001	B	0.000	N	1.000	D	0.055	N	-0.53	T	-1.069	T	0.071	T	0.318	0.451	6.449	3.37	0.530	1.859	5.720	0.021	.	.	0.00279553	0.0011	0	0	0.0153	0	1.524e-05	0	0.0002	0.0010284	159	154602	rs74885248	0.0003	0.0003	0.0003	0.0003	0.0092	0.0003	0.0003	0.0084	0.0081	2.987e-05	0	0	0.0092	0	0.0002	8.095e-06	0.0007	0.0005	0.0006	0.0006	0.0006	0.0007	0.0158	0.0005	0.0005	0.0131	0.0121	2.406e-05	0	0.0001	0	0.0158	0	0	0	0	0.0017	0.488	0.08042	T	0.479	0.11933	T	0.0	0.02946	B	0.001	0.04355	B	0.000006	0.62929	N	0.111837	0.973274	0.39011	D	-0.235	0.03917	N	-0.53	0.70833	T	-0.43	0.14390	N	0.105	0.08925	-1.0690	0.09634	T	0.071	0.29001	T	10	0.0033590496	0.00058	T	.	.	.	0.090	0.26093	.	.	0.42081714158	0.41701	0.40900019177542596	0.40816	0.0667242845945	0.07439	0.469298899174	0.34583	T	0.118519	0.43939	T	-0.439678	0.01299	T	-0.390064	0.34544	T	0.00985760271720024	0.00130	T	0.589941	0.21689	T	0.08260148	0.19036	0.10460164	0.25127	0.08260148	0.19036	0.10460164	0.25126	-2.221	0.04143	T	.	.	0.057	0.00533	B	.	.	1.886366	0.23959	16.22	0.93026921489072478	0.22626	0.01964	0.05955	N	ALL	0.396808	0.47314	N	-0.697965768283455	0.16079	0.8160836	-0.503481496177055	0.22058	1.196249	0.997864103044443	0.36124	0.700653	0.57754	0	0.588066	0.40923	0	0.670488	0.60580	0	0.581314	0.35197	2	.	.	5.76	3.37	0.37692	1.442000	0.34656	0.435000	0.18365	-0.157000	0.11712	1.000000	0.71638	0.964000	0.29435	0.957000	0.51019	0.0:0.1447:0.1436:0.7117	5.720	0.17252	417	0.81662	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1687.98	33	chr8	25336285	.	T	C	1687.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.462e+00;DP=848;ExcessHet=0.0000;FS=0.597;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.96;ReadPosRankSum=0.145;SOR=0.614	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1340	20	0	1	0
chr8	25389218	25389218	C	T	exonic	DOCK5	.	nonsynonymous SNV	DOCK5:NM_024940:exon41:c.C4259T:p.S1420L,	.	.	433	1079	10	0	0	10	0.00461255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.976	D	0.725	P	0.670	N	1.000	N	1.355	L	3.77	T	-1.002	T	0.024	T	0.277	0.920	8.747	2.39	0.263	0.149	4.614	0.021	.	.	0.00698882	0.0039	0	0.0003	0	0	0.0001	0.0044	0.0278	0.0033893	524	154602	rs538914889	0.0017	0.0017	0.0010	0.0025	0.0277	0.0017	0.0017	0.0268	0.0264	8.961e-05	2.236e-05	0	0	9.363e-05	0.0016	2.788e-05	0.0017	0.0277	0.0010	0.0010	0.0005	0.0015	0.0304	0.0008	0.0008	0.0264	0.0249	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0304	0.058	0.37750	T	0.009	0.66756	D	0.005	0.12996	B	0.006	0.12133	B	0.669527	0.06028	N	1.148490	0.999996	0.08975	N	0.55	0.14455	N	3.77	0.03863	T	-3.32	0.66085	D	0.258	0.29197	-1.0021	0.29313	T	0.024	0.10013	T	10	0.004555881	0.00094	T	.	.	.	0.021	0.04004	.	.	0.148003135375	0.14442	0.16687287872706508	0.16607	0.0505951659452	0.05561	0.286010652781	0.08344	T	0.246798	0.61633	T	-0.57726	0.00200	T	-0.581699	0.14394	T	0.0665124168830825	0.08153	T	0.665133	0.27420	T	0.11612959	0.27394	0.15259407	0.35895	0.11612959	0.27394	0.15259407	0.35894	-6.962	0.53756	T	.	.	0.064	0.01786	B	.	.	1.586886	0.20298	14.68	0.98989223608187826	0.49902	0.11341	0.16569	N	AEFBI	0.114772	0.22594	N	-0.625462872691812	0.18183	0.9419051	-0.696320076719439	0.17053	0.9049724	0.218749099442898	0.18330	0.615465	0.37627	0	0.588066	0.40923	0	0.608884	0.39905	0	0.655142	0.61905	0	.	.	5.21	2.39	0.28492	0.040000	0.13791	1.321000	0.25603	0.599000	0.40250	0.000000	0.06391	0.112000	0.22806	0.585000	0.31016	0.264:0.5156:0.1475:0.0728	4.614	0.11805	472	0.77968	Dedicator of cytokinesis, C-terminal|DHR-2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1328.98	35	chr8	25389218	.	C	T	1328.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=810;ExcessHet=0.0000;FS=3.920;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.29;ReadPosRankSum=-1.235e+00;SOR=1.162	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1363	20	0	1	0
chr8	25421622	25421622	C	T	exonic	GNRH1	.	nonsynonymous SNV	GNRH1:NM_000825:exon2:c.G200A:p.C67Y	.	.	4	1508	10	0	0	10	0.00330469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.95	D	0.000	D	1.000	D	.	.	0.55	T	-0.288	T	0.345	T	0.79	2.654	14.84	4.91	2.553	4.321	16.831	0.379	0.102105173149	.	.	0.0002	0	0	0	0	3.037e-05	0	0.0013	0.0001488	23	154602	rs765242446	0.0001	0.0001	7.527e-05	0.0001	0.0014	8.756e-05	8.241e-05	0.0009	0.0008	0	6.714e-05	0	0	0	0.0014	3.071e-05	0.0002	0.0011	4.604e-05	4.597e-05	2.571e-05	6.733e-05	0.0004	2.111e-05	1.528e-05	7.293e-05	3.03e-05	0	0	0.0002	0	0	0	0	1.471e-05	0.0005	0.0004	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.95	0.68788	D	0.000000	0.84330	D	0.000000	0.99996	0.52935	D	.	.	.	0.55	0.54728	T	-8.62	0.97496	D	0.887	0.88577	-0.2884	0.75309	T	0.345	0.71027	T	9	0.7762376	0.77482	D	0.102105	0.77538	D	0.379	0.69696	.	.	0.562917172789	0.55954	0.4806135232715197	0.47981	1.00011522387	0.74376	0.555352568626	0.46612	T	0.827521	0.95847	D	-0.161521	0.26526	T	-0.055231	0.66663	D	0.464355915784836	0.31325	T	0.60194	0.22516	T	0.835172	0.86265	0.8274855	0.90021	0.835172	0.86266	0.8274855	0.90022	-0.717	0.00734	T	0.2995485807005458	0.39681	0.212	0.44029	B	.;.	.;.	3.949265	0.57843	23.9	0.98251376090318021	0.39576	0.94454	0.61218	D	AEFBI	0.584713	0.58343	D	0.465043018155215	0.65062	4.775387	0.397902848858392	0.61436	4.343614	0.999998133767916	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	4.91	4.91	0.63897	4.386000	0.59385	7.433000	0.58809	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.104000	0.18471	0.0:1.0:0.0:0.0	16.831	0.85808	558	0.71484	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2604.98	33	chr8	25421622	.	C	T	2604.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.001e+00;DP=910;ExcessHet=0.0000;FS=0.503;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=-1.023e+00;SOR=0.757	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1335	20	0	1	0
chr8	25466307	25466307	T	C	exonic	CDCA2	.	nonsynonymous SNV	CDCA2:NM_001317906:exon4:c.T475C:p.S159P	.	.	431	1089	2	0	0	2	0.000917431	.	.	3425215	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.001	B	0.002	B	0.463	N	1.000	N	1.355	L	1.4	T	-1.029	T	0.064	T	0.061	1.058	9.319	-1.74	-0.583	0.399	1.108	0.025	0.00374116930848	.	.	6.678e-05	0	0	0	0	0	0	0.0005	5.17e-05	8	154602	rs762731661	3.172e-05	3.352e-05	1.372e-05	4.991e-05	0.0005	2.431e-05	2.175e-05	0.0004	0.0003	0	0	0	0	0	0.0002	1.803e-06	3.342e-05	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.24090	T	0.36	0.16964	T	0.001	0.07471	B	0.002	0.06944	B	0.462815	0.04880	N	1.306070	1	0.08975	N	0.895	0.22405	L	1.39	0.33842	T	-0.8	0.24898	N	0.097	0.07949	-1.0286	0.20908	T	0.064	0.26597	T	10	0.029010952	0.01029	T	0.003741	0.08682	T	0.025	0.05312	0.1	0.01484	0.183819452728	0.17975	0.07418894184280073	0.07355	0.0523993487686	0.05771	0.265293836594	0.05537	T	0.00867	0.19070	T	-0.53125	0.00378	T	-0.668816	0.07685	T	0.0189839727611763	0.00607	T	0.328467	0.06836	T	0.08308031	0.19169	0.05410758	0.09244	0.08308031	0.19168	0.05410758	0.09243	-3.887	0.22107	T	.	.	0.095	0.14797	B	.;.	.;.	0.551125	0.09195	5.980	0.84027698437083531	0.15055	0.09570	0.15296	N	AEFBI	0.123009	0.23841	N	-1.008491325586	0.08427	0.3950745	-1.07929050987175	0.08109	0.3972571	0.99970937053575	0.41986	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.34	-1.74	0.07622	0.397000	0.20608	0.711000	0.20937	0.609000	0.47794	0.000000	0.06391	0.001000	0.17328	0.004000	0.06068	0.1435:0.1667:0.297:0.3928	1.108	0.01593	887	0.27948	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	614.98	35	chr8	25466307	.	T	C	614.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.080e-01;DP=716;ExcessHet=0.0000;FS=1.236;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.83;ReadPosRankSum=-1.393e+00;SOR=0.452	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1208	20	0	1	0
chr8	25506827	25506827	C	T	exonic	CDCA2	.	nonsynonymous SNV	CDCA2:NM_001317906:exon14:c.C2116T:p.R706C	.	.	.	.	.	.	.	.	.	.	.	3425214	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.18	T	0.067	B	0.006	B	0.512	N	1.000	N	0	N	1.47	T	-1.022	T	0.040	T	0.092	1.174	9.778	1.87	0.603	0.190	5.931	0.022	0.0129548661692	0.0010	0.000599042	0.0007	0.0020	0.0004	0	0.0002	0.0007	0.0045	0.0004	0.0006145	95	154602	rs73550864	0.0004	0.0004	0.0003	0.0004	0.0035	0.0003	0.0003	0.0023	0.0019	0.0016	0.0003	0.0018	0	9.365e-05	0.0035	0.0003	0.0009	0.0005	0.0005	0.0005	0.0006	0.0004	0.0009	0.0004	0.0004	0.0007	0.0006	0.0009	0	0.0003	0.0012	0	0	0	0.0003	0.0014	0.0006	0.096	0.31834	T	0.138	0.34716	T	0.067	0.23653	B	0.006	0.12133	B	0.511513	0.05149	N	1.257310	1	0.08975	N	0	0.06538	N	1.47	0.31987	T	-1.56	0.37759	N	0.053	0.03175	-1.0224	0.22932	T	0.040	0.17020	T	10	0.0053226054	0.00117	T	0.012955	0.31963	T	0.022	0.04323	.	.	0.344251166708	0.34027	0.20876414522789727	0.20792	0.138224808436	0.15579	0.20507876575	0.00619	T	0.005638	0.11803	T	-0.587662	0.00173	T	-0.652291	0.08794	T	0.00884091737204419	0.00109	T	0.653235	0.26349	T	0.08120971	0.18648	0.042235732	0.04983	0.08120971	0.18648	0.042235732	0.04983	-4.02	0.24102	T	.	.	0.094	0.21803	B	.;.	.;.	1.360468	0.17692	13.31	0.67294041449480724	0.08312	0.03567	0.08776	N	AEFBI	0.081223	0.16433	N	-0.939428263997108	0.09931	0.4722732	-0.923687729686735	0.11535	0.5882812	0.999733814309829	0.42341	0.732398	0.92422	0	0.724815	0.89359	0	0.688494	0.62686	0	0.727631	0.95156	0	.	.	5.07	1.87	0.24559	0.207000	0.17194	-0.002000	0.13189	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.066000	0.16387	0.0:0.4885:0.3913:0.1202	5.931	0.18375	925	0.17918	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1355.98	45	chr8	25506827	.	C	T	1355.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.668;DP=936;ExcessHet=0.0000;FS=0.712;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=-1.172e+00;SOR=0.773	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr8	25507506	25507506	A	C	exonic	CDCA2	.	nonsynonymous SNV	CDCA2:NM_001317906:exon14:c.A2795C:p.K932T	.	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.009	B	0.009	B	0.552	N	1.000	N	1.355	L	1.43	T	-0.967	T	0.050	T	0.067	1.061	9.334	-6.23	-0.601	-1.052	3.961	0.005	.	.	0.00139776	0.0017	0	0	0	0	0	0	0.0124	0.0013713	212	154602	rs538582951	0.0007	0.0007	0.0003	0.0011	0.0118	0.0007	0.0007	0.0112	0.0110	0	0	0	0	0	0.0003	3.597e-06	0.0006	0.0118	0.0003	0.0004	0.0001	0.0006	0.0110	0.0003	0.0002	0.0086	0.0078	0	0	0	0	0	0	0	0	0	0.0110	0.379	0.11406	T	0.101	0.39340	T	0.009	0.15093	B	0.009	0.14300	B	0.551539	0.05372	N	1.298900	1	0.08975	N	1.175	0.29870	L	1.43	0.32958	T	-0.82	0.22508	N	0.101	0.08366	-0.9665	0.37914	T	0.050	0.21417	T	10	0.0028287768	0.00045	T	.	.	.	0.005	0.00259	0.223	0.14665	0.132336055621	0.12781	0.0600457451731216	0.05944	0.0549117150449	0.06084	0.259965956211	0.04887	T	0.006732	0.06827	T	-0.664854	0.00059	T	-0.717405	0.04922	T	0.0204478454004926	0.00744	T	0.458954	0.13262	T	0.044203535	0.07024	0.017044455	0.00025	0.044203535	0.07023	0.017044455	0.00025	-2.995	0.10127	T	.	.	0.098	0.22573	B	.;.	.;.	-0.350820	0.02404	0.268	0.80477693066682177	0.13221	0.03333	0.08409	N	AEFDGBI	0.033126	0.03870	N	-1.27761947545165	0.03946	0.1772198	-1.38333114491662	0.03429	0.1599418	0.999999929629025	0.74766	0.741868	0.97996	0	0.724815	0.89359	0	0.774882	0.98623	0	0.723	0.93126	0	.	.	5.42	-6.23	0.01875	-0.943000	0.04026	0.060000	0.14119	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.2662:0.4424:0.1968:0.0946	3.961	0.08905	925	0.17918	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1176.98	45	chr8	25507506	.	A	C	1176.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.630e-01;DP=898;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.52;ReadPosRankSum=-1.113e+00;SOR=0.717	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr8	25507698	25507698	C	A	exonic	CDCA2	.	nonsynonymous SNV	CDCA2:NM_001317906:exon14:c.C2987A:p.A996D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.0	B	0.772	N	1.000	N	-0.255	N	1.55	T	-1.014	T	0.027	T	0.043	0.001	4.020	-1.74	-0.532	0.146	1.687	0.017	0.00350997302275	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.07116	T	0.665	0.06406	T	0.0	0.02946	B	0.0	0.01387	B	0.771791	0.06602	N	1.122040	1	0.08975	N	-1.1	0.00987	N	1.55	0.29866	T	0.65	0.02332	N	0.056	0.02759	-1.0139	0.25688	T	0.027	0.11441	T	10	0.03589636	0.01860	T	0.00351	0.07969	T	0.017	0.02790	0.094	0.01195	0.178374595973	0.17440	0.07853765550286544	0.07788	0.0597640842986	0.06645	0.230899512768	0.02035	T	0.004227	0.05373	T	-0.376337	0.03285	T	-0.778359	0.02503	T	0.0263628465617818	0.01455	T	0.363264	0.08416	T	0.07657621	0.17326	0.059044827	0.11015	0.07657621	0.17326	0.059044827	0.11015	-3.316	0.13945	T	.	.	0.097	0.16886	B	.;.	.;.	-0.368563	0.02333	0.250	0.15901556235931089	0.00406	0.00193	0.01117	N	AEFDBI	0.015035	0.00267	N	-1.52142139486142	0.01709	0.07480399	-1.48241008788782	0.02488	0.1145347	0.999957939724314	0.48110	0.706548	0.73137	0	0.724815	0.89359	0	0.719019	0.79029	0	0.741806	0.99463	0	.	.	5.96	-1.74	0.07622	0.466000	0.21731	1.039000	0.23542	-0.785000	0.03297	0.002000	0.15269	0.002000	0.18203	0.017000	0.10941	0.4581:0.1382:0.2799:0.1237	1.687	0.02672	926	0.17793	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	923.98	45	chr8	25507698	.	C	A	923.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.781;DP=842;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.67;ReadPosRankSum=-1.810e+00;SOR=0.580	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr8	26410387	26410387	G	A	exonic	BNIP3L	.	nonsynonymous SNV	BNIP3L:NM_001330491:exon6:c.G515A:p.S172N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.801	P	0.425	B	0.000	D	0.991	D	1.955	M	.	.	-0.633	T	0.229	T	0.156	3.550	18.11	6.17	2.941	6.377	15.125	0.225	0.00489485086806	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1355626308	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.014	0.62352	D	0.801	0.45051	P	0.258	0.39350	B	0.000227	0.47286	D	0.266017	0.99131	0.41359	D	1.7	0.43825	L	.	.	.	-1.93	0.44852	N	0.196	0.32921	-0.6326	0.63460	T	0.229	0.59447	T	9	0.37519434	0.53778	T	0.004895	0.12286	T	0.225	0.52323	0.488	0.57257	0.567821670524	0.56447	0.8154898826550874	0.81504	0.474786711594	0.46659	0.544740796089	0.45115	T	0.310419	0.68237	T	-0.0634486	0.42366	T	-0.328916	0.41590	T	0.629959396139022	0.37616	D	0.965303	0.87188	D	0.22909	0.45640	0.2192801	0.46662	0.22909	0.45640	0.2192801	0.46661	-6.876	0.53122	T	.	.	0.483	0.63797	A	.;.;.;.	.;.;.;.	3.778387	0.54311	23.5	0.99581971878536546	0.73040	0.95801	0.66212	D	AEFBCI	0.878270	0.80342	D	0.564119317761184	0.70946	5.576826	0.660649362877141	0.79405	7.075726	0.999999994981469	0.74766	0.732398	0.92422	0	0.723133	0.82719	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	6.467000	0.73463	11.910000	0.99563	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.2445:0.7555:0.0	15.125	0.72152	779	0.47767	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1737.98	34	chr8	26410387	.	G	A	1737.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.752e+00;DP=812;ExcessHet=0.0000;FS=1.402;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=-1.354e+00;SOR=0.541	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1313	20	0	1	0
chr8	26508737	26508737	C	G	exonic	PNMA2	.	nonsynonymous SNV	PNMA2:NM_007257:exon3:c.G19C:p.E7Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.536	P	0.198	B	.	.	0.951	N	0.925	L	2.84	T	-1.012	T	0.018	T	0.26	0.319	5.729	2.97	1.200	1.569	7.431	0.025	0.00351916886985	.	.	8.474e-06	0	0	0	0	1.518e-05	0	0	6.5e-06	1	154602	rs764346444	1.37e-06	1.368e-06	1.363e-06	1.378e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.14645	T	0.149	0.32568	T	0.536	0.37827	P	0.198	0.36766	B	.	.	.	.	0.950579	0.26500	N	0	0.06538	N	2.84	0.10674	T	-0.1	0.08495	N	0.305	0.34444	-1.0124	0.26165	T	0.018	0.07565	T	9	0.1505807	0.28478	T	0.003519	0.08000	T	0.025	0.05312	0.358	0.36060	0.549036597592	0.54559	0.4686592876139212	0.46784	0.325923819181	0.34745	0.524691104889	0.42287	T	0.008096	0.07453	T	-0.244618	0.14766	T	-0.589153	0.13739	T	0.0905008172038572	0.11278	T	0.278972	0.04839	T	0.05264644	0.09850	0.038133074	0.03616	0.05264644	0.09850	0.038133074	0.03616	-4.683	0.33197	T	.	.	0.109	0.20780	B	.	.	2.427229	0.31222	18.68	0.95606595640851399	0.27352	0.62390	0.31767	D	AEFBI	0.100506	0.20207	N	-0.499180050629534	0.22106	1.178147	-0.466905009514624	0.23072	1.256309	6.31246737125765E-4	0.07505	0.638212	0.43195	0	0.59043	0.45803	0	0.687403	0.62504	0	0.668105	0.65232	0	.	.	3.84	2.97	0.33479	1.579000	0.36145	2.586000	0.33442	-0.176000	0.10722	0.897000	0.31356	0.991000	0.31484	0.052000	0.15357	0.0:0.8823:0.0:0.1177	7.431	0.26298	717	0.55835	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1837.98	33	chr8	26508737	.	C	G	1837.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.419e+00;DP=936;ExcessHet=0.0000;FS=2.455;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.05;ReadPosRankSum=1.23;SOR=0.517	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr8	26748611	26748611	G	A	exonic	ADRA1A	.	stopgain	ADRA1A:NM_001322503:exon2:c.C1021T:p.R341X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	.	.	.	.	0.635	U	0.999	N	.	.	.	.	.	.	.	.	.	3.732	18.95	0.046	0.132	0.447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868130110	7.046e-05	5.725e-05	6.97e-05	7.102e-05	0.0031	4.601e-05	3.743e-05	0.0008	0.0004	0	0.0002	0	0	0	0.0031	4.829e-05	0.0002	5.55e-05	0.0001	0.0001	0.0001	0.0001	0.0003	7.61e-05	6.309e-05	0.0001	8.349e-05	2.417e-05	0	0.0003	0	0	0	0.0068	0.0001	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02941	154.21	2	chr8	26748611	.	G	A	154.21	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.480e+00;DP=56;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1232;MLEAC=1;MLEAF=0.029;MQ=60.00;MQRankSum=0.00;QD=17.13;ReadPosRankSum=0.862;SOR=0.941	GT:AD:DP:GQ:PL	0/0:3,0:3:9:0,9,66	16	0	1	4
chr8	26770378	26770378	G	A	exonic	ADRA1A	.	nonsynonymous SNV	ADRA1A:NM_033302:exon2:c.C1172T:p.T391M	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.968	D	0.502	P	0.334	N	1.000	D	1.61	L	2.02	T	-0.575	T	0.257	T	0.311	2.627	14.75	5.06	1.445	4.852	16.215	0.097	0.0523066362056	0.0003	0.000599042	0.0002	0.0007	8.637e-05	0.0005	0	0.0001	0	6.056e-05	0.0001746	27	154602	rs151273238	0.0002	0.0002	0.0002	0.0001	0.0021	0.0001	0.0001	0.0018	0.0016	0.0005	0.0002	0	0.0021	0	0.0010	6.655e-05	0.0004	5.797e-05	0.0001	0.0001	8.993e-05	0.0001	0.0004	7.086e-05	5.743e-05	7.869e-05	5.573e-05	0.0002	0	6.533e-05	0	0.0004	0	0	0.0001	0	0	0.001	0.78490	D	0.022	0.69154	D	0.851	0.54400	P	0.332	0.47702	B	0.333955	0.14069	N	0.667620	1	0.81001	D	0.55	0.14455	N	2.02	0.62762	T	-1.41	0.34795	N	0.298	0.35727	-0.5750	0.65816	T	0.257	0.62789	T	10	0.09308192	0.16443	T	0.052307	0.65017	D	0.097	0.27909	.	.	0.856113102952	0.85472	0.20987513720425913	0.20903	0.742283583276	0.63323	0.621821403503	0.55986	T	0.056952	0.30431	T	-0.291251	0.09510	T	-0.313407	0.43293	T	0.0459600859151169	0.04777	T	0.935206	0.75689	D	0.12424568	0.29157	0.17448694	0.39848	0.12424568	0.29157	0.17448694	0.39848	-4.297	0.28664	T	.	.	0.120	0.24700	B	.;.;.;.;.;.	.;.;.;.;.;.	3.995005	0.58824	24.0	0.99501777912071232	0.68089	0.96657	0.70249	D	AEFBI	0.721531	0.67175	D	0.344709949088622	0.58461	4.018451	0.401830225271455	0.61679	4.371433	0.433656414874315	0.20394	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.96	5.06	0.67838	5.182000	0.64897	8.587000	0.77670	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.940000	0.48062	0.0:0.0:0.8577:0.1423	16.215	0.82018	849	0.35778	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2138.98	35	chr8	26770378	.	G	A	2138.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=996;ExcessHet=0.0000;FS=1.150;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=-5.510e-01;SOR=0.599	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1620	20	0	1	0
chr8	26864473	26864473	C	T	exonic	ADRA1A	.	nonsynonymous SNV	ADRA1A:NM_001322502:exon1:c.G497A:p.R166K	.	.	418	1098	6	0	0	6	0.0027248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.008	B	0.000	D	0.973	D	-0.92	N	1.25	T	-0.997	T	0.018	T	0.131	0.288	5.557	4.46	2.646	4.150	7.036	0.050	0.00198605054735	0.0032	0.00139776	0.0021	0.0009	0.0010	0	0	0.0036	0	0.0001	0.0023221	359	154602	rs56233953	0.0028	0.0028	0.0028	0.0029	0.0054	0.0027	0.0027	0.0039	0.0034	0.0007	0.0017	0.0010	0	0.0003	0.0054	0.0034	0.0030	0.0002	0.0025	0.0025	0.0028	0.0022	0.0041	0.0023	0.0022	0.0037	0.0036	0.0007	0.0033	0.0030	0	0	0	0.0171	0.0041	0.0052	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.09854	B	0.003	0.08700	B	0.000002	0.62929	D	0.100468	0.973035	0.38993	D	-0.4	0.02994	N	1.25	0.36512	T	1.77	0.00544	N	0.066	0.10483	-0.9974	0.30646	T	0.018	0.07329	T	10	0.007351011	0.00167	T	0.001986	0.03562	T	0.050	0.13987	.	.	0.493896554345	0.49026	0.46228028280086203	0.46146	0.306489444402	0.32949	0.332844078541	0.15364	T	0.033721	0.23030	T	-0.536506	0.00352	T	-0.544269	0.17880	T	0.0386525655362211	0.03448	T	0.847115	0.52772	T	0.2161365	0.44064	0.18674666	0.41866	0.2161365	0.44064	0.18674666	0.41865	-0.919	0.00930	T	.	.	0.094	0.15341	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.338608	0.29965	18.29	0.81798670386369077	0.13865	0.65960	0.32914	D	AEFDBCI	0.471640	0.51709	N	-0.426151954746049	0.24556	1.326728	-0.135339284710295	0.33977	1.949382	0.99808437736861	0.36406	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	5.35	4.46	0.53567	4.202000	0.58243	4.008000	0.41136	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.7497:0.0:0.2503	7.036	0.24174	881	0.29269	GPCR, rhodopsin-like, 7TM;.;GPCR, rhodopsin-like, 7TM;.;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2566.98	33	chr8	26864473	.	C	T	2566.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.250e-01;DP=911;ExcessHet=0.0000;FS=1.131;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=0.468;SOR=0.592	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1067	20	0	1	0
chr8	27289271	27289271	G	A	exonic	TRIM35	.	nonsynonymous SNV	TRIM35:NM_001304495:exon3:c.C676T:p.H226Y	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.013	B	0.003	B	.	.	1.000	N	.	.	-0.13	T	-0.943	T	0.165	T	.	2.270	13.55	5.07	1.517	1.711	10.984	0.040	0.0197493238184	0.0005	0.000798722	0.0001	0.0012	8.676e-05	0	0	6.007e-05	0	0	0.0001682	26	154602	rs112470372	0.0001	0.0001	0.0001	0.0001	0.0022	0.0001	9.569e-05	0.0018	0.0016	0.0022	8.946e-05	0	0	0	0.0007	6.476e-05	0.0003	0	0.0007	0.0007	0.0007	0.0006	0.0021	0.0006	0.0005	0.0017	0.0016	0.0021	0	0.0004	0	0	0	0	0.0001	0.0005	0	0.0	0.91255	D	0.021	0.58089	D	0.013	0.16609	B	0.003	0.08700	B	.	.	.	.	1	0.81001	D	.	.	.	-0.13	0.64818	T	0.43	0.03297	N	0.32	0.36043	-0.9432	0.42105	T	0.165	0.50340	T	8	0.01551643	0.00326	T	0.019749	0.42191	T	0.040	0.10527	.	.	0.661975707287	0.65914	.	.	.	.	.	.	.	0.007717	0.07108	T	-0.215641	0.18591	T	-0.088387	0.64283	T	0.211772441864014	0.21046	T	0.352165	0.07899	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.24733	B	.	.	0.680609	0.10493	7.206	0.98198645318278277	0.39097	0.92481	0.55812	D	AEFDBI	0.034371	0.04245	N	-0.104113181267482	0.37213	2.161838	0.0632015068175121	0.42715	2.588455	0.997167364875065	0.35335	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.95	5.07	0.68106	1.130000	0.31007	0.899000	0.22534	-0.113000	0.14837	1.000000	0.71638	0.999000	0.35428	0.481000	0.28588	0.0856:0.0:0.9144:0.0	10.984	0.46727	626	0.65439	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1125.98	37	chr8	27289271	.	G	A	1125.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.600e-01;DP=795;ExcessHet=0.0000;FS=2.837;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=-2.600e-01;SOR=0.448	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr8	27437868	27437868	A	G	exonic	PTK2B	.	nonsynonymous SNV	PTK2B:NM_173175:exon18:c.A1631G:p.N544S	.	.	.	.	.	.	.	.	.	.	.	3318240	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.004	B	0.011	B	0.000	D	1.000	D	1.85	L	-0.01	T	-0.820	T	0.187	T	0.074	2.466	14.21	2.4	0.815	1.386	8.427	0.129	0.0148160127162	0.0002	.	4.314e-05	0	0	0	0	7.632e-05	0	0	2.59e-05	4	154602	rs151100763	1.028e-05	1.026e-05	1.227e-05	8.271e-06	1.35e-05	6.17e-06	4.9e-06	8.11e-06	6.43e-06	0	0	0	0	0	0	1.35e-05	0	0	6.569e-06	6.567e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.026	0.47320	D	0.128	0.35205	T	0.0	0.02946	B	0.0	0.04355	B	0.000000	0.84330	D	0.082157	0.999918	0.51042	D	0.87	0.21467	L	-0.01	0.62762	T	-1.45	0.35597	N	0.241	0.27673	-0.8199	0.53940	T	0.187	0.53661	T	10	0.19151089	0.34841	T	0.014816	0.35183	T	0.129	0.35316	.	.	0.617736619876	0.61464	0.2656738402647586	0.26480	0.240249285893	0.26570	0.415268868208	0.27185	T	0.37666	0.74000	T	-0.27204	0.11531	T	-0.495382	0.22827	T	0.0669647575950316	0.08218	T	0.829517	0.49484	T	0.39824378	0.60611	0.17444943	0.39842	0.39824378	0.60611	0.17444943	0.39841	-8.467	0.64416	D	.	.	0.065	0.02012	B	.;.;.;.	.;.;.;.	2.081864	0.26480	17.13	0.99397681923865011	0.62656	0.76937	0.37776	D	AEFBHCI	0.266906	0.38372	N	-0.208409515046365	0.32790	1.853078	-0.0969137154687631	0.35517	2.055798	0.88040867847614	0.25606	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.16	2.4	0.28568	1.092000	0.30538	0.309000	0.17063	0.756000	0.94297	1.000000	0.71638	0.573000	0.25582	0.997000	0.79791	0.8098:0.0:0.1902:0.0	8.427	0.31892	880	0.29376	Serine-threonine/tyrosine-protein kinase, catalytic domain|Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1103.98	34	chr8	27437868	.	A	G	1103.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.465e+00;DP=839;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=0.330;SOR=0.665	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,104,1529	20	0	1	0
chr8	27518067	27518067	T	C	exonic	EPHX2	.	nonsynonymous SNV	EPHX2:NM_001256483:exon8:c.T742C:p.C248R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.987	D	0.000	D	1.000	D	1.865	L	3.83	T	-1.156	T	0.029	T	0.912	2.806	15.35	3.41	0.880	1.887	7.536	0.351	0.0111009924824	.	.	8.52e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs146084287	4.835e-06	4.788e-06	5.496e-06	4.167e-06	2.534e-05	2.01e-06	1.29e-06	8.5e-07	5.7e-07	0	0	3.873e-05	2.534e-05	0	0	3.612e-06	0	1.211e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.014	0.69154	D	0.998	0.73220	D	0.987	0.77487	D	0.000006	0.62929	D	0.173944	1	0.81001	D	3.15	0.88382	M	3.83	0.03702	T	-7.9	0.96191	D	0.739	0.74098	-1.1563	0.00850	T	0.029	0.12409	T	10	0.94346493	0.93671	D	0.011101	0.28373	T	0.351	0.67234	0.857	0.95604	0.565865824572	0.56251	0.9555509566420908	0.95540	0.167373738251	0.18878	0.585405945778	0.50847	T	0.376532	0.73990	T	0.0729975	0.61212	D	0.0461514	0.73329	D	0.982576251029968	0.74574	D	0.762324	0.38756	T	0.98991334	0.99760	0.9653733	0.99249	0.98991334	0.99760	0.9653733	0.99250	-11.123	0.81378	D	.	.	0.909	0.85945	P	.;.;.;.;.	.;.;.;.;.	4.373544	0.67350	25.1	0.99719989567917433	0.81984	0.82043	0.41333	D	AEFBI	0.667744	0.63576	D	0.372574917059492	0.59941	4.177868	0.306272339373727	0.55906	3.753643	0.95738979957561	0.28300	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	4.59	3.41	0.38145	1.951000	0.39958	4.828000	0.45175	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.1905:0.0:0.0:0.8094	7.536	0.26881	758	0.50837	Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1;.;.;Alpha/beta hydrolase fold-1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1107.98	34	chr8	27518067	.	T	C	1107.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.250e-01;DP=800;ExcessHet=0.0000;FS=0.749;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.08;ReadPosRankSum=-1.527e+00;SOR=0.705	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1193	20	0	1	0
chr8	27605077	27605077	C	T	exonic	CLU	.	nonsynonymous SNV	CLU:NM_001831:exon5:c.G676A:p.V226I,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.886	P	0.195	B	0.559	N	1.000	N	1.355	L	1.87	T	-1.030	T	0.051	T	0.136	1.650	11.48	3.58	0.999	0.232	8.972	0.037	0.0122683684811	.	.	4.118e-05	0	8.642e-05	0	0	1.498e-05	0	0.0002	3.23e-05	5	154602	rs774962493	4.994e-05	4.994e-05	3.539e-05	6.463e-05	0.0004	4.059e-05	3.734e-05	0.0003	0.0002	5.974e-05	6.708e-05	0	2.519e-05	0	0.0002	2.878e-05	4.967e-05	0.0004	5.263e-05	5.255e-05	5.144e-05	5.388e-05	0.0002	2.56e-05	1.832e-05	4.747e-05	3.059e-05	0.0001	0	0	0	0	0	0	2.941e-05	0	0.0002	0.113	0.28772	T	0.426	0.13872	T	0.469	0.36524	P	0.058	0.26451	B	0.558908	0.05413	N	1.227870	1	0.08975	N	1.5	0.37844	L	1.87	0.24085	T	-0.58	0.17624	N	0.037	0.01135	-1.0297	0.20551	T	0.051	0.21689	T	10	0.08325186	0.13827	T	0.012268	0.30692	T	0.053	0.14996	0.579	0.70476	0.0716867268079	0.06686	0.3601915143271226	0.35933	0.400431984246	0.41042	0.281844645739	0.07751	T	0.103064	0.41138	T	-0.477494	0.00765	T	-0.627471	0.10607	T	0.0430267676711082	0.04242	T	0.522448	0.17034	T	0.022037953	0.00840	0.040703714	0.04459	0.022037953	0.00840	0.040703714	0.04459	-4.278	0.27867	T	.	.	0.124	0.26010	B	.;.;.;.	.;.;.;.	0.965860	0.13426	9.934	0.94963781412990667	0.25884	0.06352	0.12351	N	AEFDBI	0.376975	0.46092	N	-0.746365396702998	0.14732	0.7363638	-0.80630097810998	0.14343	0.748941	0.999327337879764	0.39149	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.45	3.58	0.40133	0.199000	0.17037	0.745000	0.21191	-0.171000	0.11205	0.001000	0.13787	0.179000	0.23406	0.138000	0.19872	0.0:0.8942:0.0:0.1058	8.972	0.35072	600	0.68026	Clusterin, N-terminal;Clusterin, N-terminal;Clusterin, N-terminal;Clusterin, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2076.98	160	chr8	27605077	.	C	T	2076.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.48;DP=946;ExcessHet=0.0000;FS=3.695;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=0.727;SOR=0.447	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr8	27776612	27776612	A	G	exonic	ESCO2	.	nonsynonymous SNV	ESCO2:NM_001017420:exon3:c.A304G:p.I102V,	Roberts syndrome, Autosomal recessive;SC phocomelia syndrome, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	273926	Roberts-SC_phocomelia_syndrome|not_provided	MONDO:MONDO:0100253,MedGen:C0392475,OMIM:268300,Orphanet:3103|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.23	T	0.004	B	0.019	B	0.022	N	1.000	D	1.78	L	0.7	T	-0.996	T	0.179	T	0.095	1.259	10.11	-0.832	-0.065	0.368	4.159	0.048	0.0113185891406	.	.	8.268e-05	0	0	0	0	0.0001	0	0.0001	8.41e-05	13	154602	rs201354290	0.0003	0.0003	0.0002	0.0003	0.0009	0.0002	0.0002	0.0003	0.0003	0	2.236e-05	0	0	0	0.0009	0.0003	0.0002	0.0002	7.225e-05	7.223e-05	7.706e-05	6.722e-05	0.0001	3.97e-05	3.126e-05	4.764e-05	3.338e-05	2.412e-05	0	6.544e-05	0	0	0	0	0.0001	0.0010	0	0.233	0.25979	T	0.0	0.92824	D	0.002	0.09854	B	0.007	0.12992	B	0.022001	0.26719	N	0.454089	0.654033	0.81001	D	1.355	0.33814	L	0.7	0.67011	T	-0.53	0.16393	N	0.063	0.03502	-0.9958	0.31082	T	0.179	0.52536	T	10	0.118229866	0.22347	T	0.011319	0.28825	T	0.048	0.13305	.	.	0.650937406085	0.64803	0.1726468118278754	0.17184	0.101361736065	0.11470	0.396853804588	0.24631	T	0.022821	0.17526	T	-0.360347	0.04110	T	-0.48609	0.23801	T	0.0293195511310961	0.01886	T	0.619338	0.25461	T	0.030766703	0.02796	0.028842924	0.01160	0.030766703	0.02796	0.028842924	0.01160	-3.652	0.18612	T	.	.	0.145	0.32030	B	.;.;.	.;.;.	1.087916	0.14711	11.26	0.87929945435024348	0.17588	0.32267	0.24543	N	AEFBI	0.102951	0.20640	N	-0.422778479958731	0.24672	1.333882	-0.337167158488305	0.26909	1.489563	0.999612491561007	0.40981	0.651	0.46895	0	0.627608	0.54475	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.63	-0.832	0.10240	0.207000	0.17194	0.977000	0.23099	0.691000	0.84096	0.989000	0.36753	0.994000	0.32194	0.976000	0.56436	0.515:0.0:0.3329:0.1521	4.159	0.09738	895	0.25842	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	5901.98	36	chr8	27776612	.	A	G	5901.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.462;DP=1130;ExcessHet=0.0000;FS=2.678;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.25;ReadPosRankSum=-5.040e-01;SOR=0.637	GT:AD:DP:GQ:PL	0/1:173,214:387:99:5916,0,4544	20	0	1	0
chr8	27780175	27780175	A	C	exonic	ESCO2	.	nonsynonymous SNV	ESCO2:NM_001017420:exon4:c.A863C:p.D288A,	Roberts syndrome, Autosomal recessive;SC phocomelia syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	0.0017	0.124	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.267	B	0.058	B	0.359	N	0.966	D	2.015	M	-0.08	T	-0.908	T	0.177	T	0.159	1.495	10.95	3.09	1.097	0.752	5.703	0.041	0.036113372851	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1324955909	6.944e-07	6.842e-07	0	1.394e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.28395	T	0.624	0.07342	T	0.267	0.31683	B	0.058	0.26451	B	0.359022	0.13698	N	0.732438	0.965928	0.38498	D	2.015	0.55033	M	-0.08	0.63911	T	-1.05	0.27463	N	0.293	0.33140	-0.9082	0.47073	T	0.177	0.52131	T	10	0.103900224	0.19127	T	0.036113	0.56785	D	0.041	0.10877	0.179	0.08626	0.644361271733	0.64141	0.23860764320505623	0.23774	0.186473168154	0.20951	0.334399044514	0.15597	T	0.019686	0.15640	T	-0.1399	0.29908	T	-0.438733	0.28951	T	0.0817420536834671	0.10209	T	0.421758	0.11220	T	0.05420681	0.10369	0.045814186	0.06246	0.05420681	0.10369	0.045814186	0.06245	-4.455	0.30296	T	.	.	0.092	0.13690	B	.	.	1.337190	0.17432	13.16	0.98537901942743511	0.42682	0.48282	0.28172	N	AEFBI	0.074448	0.14923	N	-0.418098471699974	0.24835	1.343802	-0.402761158416542	0.24916	1.367142	0.999901861649278	0.45458	0.615465	0.37627	0	0.541556	0.11502	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.45	3.09	0.34677	1.246000	0.32405	1.814000	0.28986	-0.040000	0.17491	0.588000	0.27650	0.999000	0.35428	0.009000	0.08673	0.7878:0.0:0.2122:0.0	5.703	0.17162	899	0.25060	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	426.98	34	chr8	27780175	.	A	C	426.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.313e+00;DP=755;ExcessHet=0.0000;FS=1.040;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.49;ReadPosRankSum=-8.940e-01;SOR=0.830	GT:AD:DP:GQ:PL	0/1:35,22:57:99:441,0,906	20	0	1	0
chr8	27787965	27787965	G	A	exonic	ESCO2	.	nonsynonymous SNV	ESCO2:NM_001017420:exon6:c.G1094A:p.R365K,	Roberts syndrome, Autosomal recessive;SC phocomelia syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	265638	Roberts-SC_phocomelia_syndrome|not_provided|ESCO2-related_disorder|not_specified	MONDO:MONDO:0100253,MedGen:C0392475,OMIM:268300,Orphanet:3103|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.012	B	0.007	B	0.000	N	0.999	D	1.04	L	-0.12	T	-0.874	T	0.208	T	0.105	3.492	17.86	3.95	0.747	1.756	10.068	0.015	0.0335115822968	0.0022	0.000599042	0.0026	0.0003	0.0002	0	0.0077	0.0038	0.0011	0	0.0024644	381	154602	rs144288263	0.0033	0.0033	0.0033	0.0033	0.0038	0.0032	0.0032	0.0037	0.0037	0.0004	0.0003	0	0	0.0072	0.0019	0.0038	0.0026	3.479e-05	0.0026	0.0026	0.0024	0.0029	0.0039	0.0024	0.0023	0.0035	0.0033	0.0005	0.0033	0.0007	0	0	0.0093	0.0034	0.0039	0.0009	0	0.095	0.31235	T	0.256	0.23298	T	0.012	0.16265	B	0.007	0.12992	B	0.000200	0.48115	N	0.204073	0.999464	0.47157	D	2.05	0.56469	M	-0.12	0.71307	T	-0.28	0.15379	N	0.082	0.06190	-0.8742	0.50211	T	0.208	0.56730	T	10	0.0067800283	0.00154	T	0.033512	0.55030	D	0.045	0.12272	.	.	0.673433498257	0.67067	0.35661019156252577	0.35575	0.127698528255	0.14400	0.420419037342	0.27894	T	0.013004	0.11328	T	-0.443231	0.01238	T	-0.41092	0.32118	T	0.00951416074755247	0.00123	T	0.589041	0.21605	T	0.043551452	0.06808	0.054536227	0.09397	0.048670642	0.08519	0.055244915	0.09654	-1.534	0.03132	T	.	.	0.083	0.09433	B	.;.	.;.	2.328996	0.29829	18.25	0.99490032896201763	0.67403	0.80918	0.40436	D	AEFBI	0.196852	0.32380	N	-0.33446987721597	0.27847	1.531133	-0.193585273549873	0.31770	1.801177	0.748113387087198	0.23316	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.79	3.95	0.44952	1.940000	0.39851	5.159000	0.47785	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.386000	0.26469	0.1564:0.0:0.8436:0.0	10.068	0.41490	897	0.25382	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	754.98	35	chr8	27787965	.	G	A	754.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.382e+00;DP=736;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=0.919;SOR=0.676	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,976	20	0	1	0
chr8	28527857	28527857	A	C	exonic	FZD3	.	nonsynonymous SNV	FZD3:NM_145866:exon4:c.A1097C:p.Y366S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.998	D	0.000	D	1.000	D	1.01	L	-1.48	T	-0.003	T	0.531	D	0.963	3.136	16.48	5.11	1.919	9.339	13.703	0.733	0.112536711528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.23360	T	0.229	0.25210	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.22	0.30592	L	-1.48	0.81150	T	-3.36	0.66549	D	0.892	0.89131	-0.0033	0.82188	T	0.531	0.82597	D	10	0.86584103	0.85828	D	0.112537	0.79072	D	0.733	0.90677	0.506	0.60078	0.910978530935	0.91008	0.82420749831174	0.82378	1.94513251559	0.93320	0.79725664854	0.81546	T	0.709163	0.91690	D	0.387863	0.89198	D	0.319362	0.89062	D	0.984737694263458	0.75947	D	0.861414	0.55526	D	0.50037515	0.67117	0.37308556	0.62503	0.50037515	0.67118	0.37308556	0.62503	-7.107	0.54811	T	.	.	0.467	0.63338	A	.;.	.;.	4.849540	0.79257	27.1	0.98881879482698976	0.47841	0.98876	0.88035	D	AEFGBI	0.912067	0.87221	D	0.628358452111575	0.74975	6.224987	0.647031843081357	0.78390	6.86662	0.999999906386	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.620846	0.47308	0	.	.	5.11	5.11	0.69188	9.325000	0.96006	11.284000	0.91844	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.703	0.62101	835	0.38313	Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane domain;Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2778	2023.96	49	chr8	28527857	.	A	C	2023.96	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-4.128e+00;DP=3491;ExcessHet=6.1002;FS=238.297;InbreedingCoeff=-0.3837;MLEAC=11;MLEAF=0.306;MQ=60.00;MQRankSum=0.00;QD=1.06;ReadPosRankSum=3.10;SOR=12.767	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:152,41:193:9:.:.:0,9,3341	8	0	10	3
chr8	28716532	28716532	G	A	exonic	EXTL3	.	nonsynonymous SNV	EXTL3:NM_001440:exon3:c.G473A:p.R158Q,	.	YES	416	1099	7	0	0	7	0.0031746	.	.	1118523	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.871	P	0.097	B	0.000	D	1.000	D	1.445	L	-3.7	D	0.513	D	0.731	D	0.699	3.270	16.97	5.02	2.348	9.624	18.403	0.585	0.341576427091	.	0.000998403	0.0006	0	0.0002	0	0	7.502e-05	0.0011	0.0036	0.0004722	73	154602	rs573052861	0.0003	0.0003	0.0002	0.0004	0.0038	0.0002	0.0002	0.0034	0.0033	0	4.472e-05	0	0	0	0.0007	3.417e-05	0.0003	0.0038	0.0002	0.0002	0.0001	0.0002	0.0039	0.0001	0.0001	0.0026	0.0021	2.406e-05	0	0	0	0.0002	0	0	8.822e-05	0	0.0039	0.121	0.27783	T	0.603	0.07868	T	0.871	0.47859	P	0.097	0.30390	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	0.895	0.22405	L	-3.7	0.95352	D	-0.79	0.21860	N	0.801	0.79696	0.513	0.90723	D	0.731	0.90780	D	9	0.03950128	0.02445	T	0.341576	0.92029	D	0.585	0.83360	.	.	0.951535142876	0.95102	0.6907624148698749	0.69016	0.415449105728	0.42203	0.706462025642	0.68080	T	0.213033	0.57424	T	-0.0347328	0.46727	T	0.174596	0.81680	D	0.0615618673074429	0.07412	T	0.979802	0.93081	D	0.17576112	0.38452	0.14381711	0.34165	0.17576112	0.38452	0.14381711	0.34164	-2.861	0.08759	T	0.13000684969041673	0.13634	0.161	0.35622	B	.	.	3.173661	0.43051	21.7	0.99832872717281562	0.91456	0.99626	0.98117	D	AEFBI	0.922297	0.89707	D	0.360604662325935	0.59301	4.10846	0.44156399724953	0.64176	4.666968	0.999999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	9.757000	0.98114	11.850000	0.98050	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.910000	0.44547	0.0:0.0:1.0:0.0	18.403	0.90467	597	0.68309	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3011.98	36	chr8	28716532	.	G	A	3011.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.72;DP=944;ExcessHet=0.0000;FS=1.046;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=0.441;SOR=0.808	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr8	28768215	28768217	GAT	-	exonic	INTS9	.	nonframeshift deletion	INTS9:NM_001145159:exon16:c.1843_1845del:p.I615del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1174060019	8.893e-06	8.893e-06	4.084e-06	1.375e-05	0.0002	4.96e-06	3.82e-06	8.885e-05	7.053e-05	0	0	0	0	0	0	0	0	0.0002	6.564e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2661.94	33	chr8	28768214	.	AGAT	A	2661.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.108e+00;DP=849;ExcessHet=0.0000;FS=3.905;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.36;ReadPosRankSum=0.044;SOR=0.883	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1282	20	0	1	0
chr8	28780872	28780872	G	C	exonic	INTS9	.	nonsynonymous SNV	INTS9:NM_001145159:exon11:c.C1158G:p.H386Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.988	D	0.869	P	0.000	D	1.000	D	2.115	M	0.93	T	-0.886	T	0.159	T	0.906	4.104	21.1	0.193	0.076	0.581	10.624	0.284	0.016436562205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.942e-05	2.723e-06	1.375e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.007	0.69154	D	0.943	0.53072	P	0.823	0.59197	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.935	0.51832	L	0.9	0.46412	T	-6.4	0.91184	D	0.958	0.97317	-0.8865	0.49231	T	0.159	0.49296	T	10	0.78347826	0.78049	D	0.016437	0.37697	T	0.284	0.60219	0.331	0.31681	0.611786747218	0.60866	0.7458400941079445	0.74530	1.09661947037	0.77599	0.802756369114	0.82384	T	0.389927	0.75023	T	0.189418	0.72910	D	0.0343095	0.72559	D	0.994060456752777	0.85148	D	0.789321	0.45144	T	0.9127507	0.92552	0.8257955	0.89911	0.9127507	0.92554	0.8257955	0.89912	-11.639	0.83227	D	.	.	0.945	0.89314	P	.;.;.	.;.;.	3.184076	0.43231	21.7	0.99337460911012421	0.60051	0.90823	0.52327	D	AEFBI	0.386581	0.46689	N	0.15838004896007	0.49210	3.123909	0.105560327046998	0.44831	2.757433	0.984078514391494	0.30659	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.97	0.193	0.14419	0.609000	0.23935	1.081000	0.23892	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.5112:0.0:0.4888:0.0	10.624	0.44686	533	0.73433	Beta-Casp domain|Beta-Casp domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	935.59	59	chr8	28780872	.	G	C	935.59	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-3.284e+00;DP=1729;ExcessHet=4.7172;FS=229.301;InbreedingCoeff=-0.2916;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.09;ReadPosRankSum=-6.400e-02;SOR=11.592	GT:AD:DP:GQ:PL	0/1:69,26:95:99:99,0,1056	12	0	9	0
chr8	29147599	29147599	G	A	exonic	KIF13B	.	nonsynonymous SNV	KIF13B:NM_015254:exon17:c.C1817T:p.P606L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	1.0	D	0.999	D	0.000	D	1.000	D	2.58	M	-0.57	T	0.136	D	0.586	D	0.878	4.678	25.8	5.81	2.746	7.337	20.082	0.466	0.126188622766	.	.	3.358e-05	0	0.0003	0	0	1.515e-05	0	0	2.59e-05	4	154602	rs750470565	6.186e-06	9.577e-06	6.843e-06	5.522e-06	0.0001	2.91e-06	2.11e-06	5.813e-05	3.957e-05	0	0.0001	0	0	0	0	2.708e-06	0	0	1.315e-05	1.97e-05	0	2.693e-05	0.0001	2.19e-06	8.2e-07	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	0.002	0.72154	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.525	0.73725	M	-0.57	0.71307	T	-9.24	0.98602	D	0.898	0.89800	0.136	0.84808	D	0.586	0.85167	D	10	0.8164784	0.80883	D	0.126189	0.80782	D	0.466	0.76156	.	.	0.927626815319	0.92688	0.43415656669161884	0.43332	0.61352129374	0.55912	0.707061946392	0.68167	T	0.282622	0.65537	T	0.154572	0.69696	D	0.239301	0.85116	D	0.976262748241425	0.71301	D	0.983402	0.94400	D	0.76023626	0.81467	0.773161	0.86612	0.76023626	0.81469	0.773161	0.86613	-10.6	0.77420	D	.	.	0.651	0.70966	P	.;.	.;.	6.325402	0.95018	34	0.99891121745253386	0.96513	0.99515	0.96953	D	AEFBI	0.843251	0.76030	D	0.812706779379912	0.86895	9.034294	0.787375722079742	0.88903	9.760086	0.99999999999929	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.81	5.81	0.92413	7.459000	0.79833	11.679000	0.94198	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:1.0:0.0	20.082	0.97782	775	0.48401	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	751.98	57	chr8	29147599	.	G	A	751.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.41;DP=1493;ExcessHet=0.0000;FS=6.130;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.64;ReadPosRankSum=-1.639e+00;SOR=1.380	GT:AD:DP:GQ:PL	0/0:94,0:94:99:0,120,1800	20	0	1	0
chr8	29155778	29155778	T	C	exonic	KIF13B	.	nonsynonymous SNV	KIF13B:NM_015254:exon14:c.A1483G:p.I495V,	.	.	.	.	.	.	.	.	.	.	.	3455774	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	0.958	D	0.97	D	0.000	D	1.000	D	1.93	M	-2.85	D	0.699	D	0.807	D	0.377	1.930	12.41	5.02	2.228	5.675	15.198	0.575	0.0624448102537	7.7e-05	.	9.815e-05	0.0002	0.0005	0.0002	0	6.188e-05	0	0	3.88e-05	6	154602	rs377395370	5.52e-05	5.609e-05	5.894e-05	5.142e-05	0.0010	4.516e-05	4.183e-05	0.0005	0.0003	2.998e-05	0.0004	0.0006	2.533e-05	0	0.0010	1.81e-05	0.0002	0.0001	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0001	0.0011	0.0010	0	0	0.0016	0.0012	0	0	0	2.94e-05	0.0005	0	0.076	0.41637	T	0.039	0.51112	D	0.581	0.38837	P	0.487	0.47260	P	0.000000	0.84330	D	0.000000	0.999994	0.58761	D	2.33	0.66821	M	-2.85	0.91363	D	-0.81	0.23156	N	0.473	0.50868	0.699	0.93161	D	0.807	0.93475	D	10	0.20301887	0.36442	T	0.062445	0.68654	D	0.575	0.82799	.	.	0.75956964043	0.75738	0.3021729205111378	0.30130	0.22773795391	0.25330	0.589011073112	0.51355	T	0.260329	0.63169	T	-0.110458	0.34694	T	-0.0704999	0.65590	T	0.10390071001088	0.12781	T	0.946405	0.79487	D	0.19490127	0.41257	0.10031104	0.23981	0.19490127	0.41257	0.10031104	0.23980	-6.36	0.49196	T	.	.	0.157	0.34732	B	.;.	.;.	2.295597	0.29365	18.10	0.99466047459665052	0.66049	0.96370	0.68806	D	AEFBI	0.649114	0.62369	D	0.314814491331364	0.56907	3.856411	0.32884433934177	0.57239	3.889162	0.999639745251424	0.41205	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	5.855000	0.69252	5.030000	0.46819	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.269000	0.23743	0.0:0.0:0.0:1.0	15.198	0.72794	782	0.47442	Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain;Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2046.98	33	chr8	29155778	.	T	C	2046.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.336;DP=844;ExcessHet=0.0000;FS=1.272;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.38;ReadPosRankSum=0.364;SOR=0.585	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr8	30138668	30138668	C	T	exonic	MBOAT4	.	nonsynonymous SNV	MBOAT4:NM_001100916:exon2:c.G208A:p.A70T,	.	.	399	1115	7	1	0	9	0.00401965	.	.	2343134	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.008	B	0.001	B	.	.	1.000	N	0.695	N	2.0	T	-0.987	T	0.025	T	0.121	-0.449	1.920	-5.04	-1.422	-0.094	5.121	0.022	0.00988486693314	.	0.000399361	0.0003	0	0	0	0	0.0002	0	0.0005	7.76e-05	12	154602	rs140611326	0.0002	0.0002	0.0002	0.0003	0.0020	0.0002	0.0002	0.0011	0.0009	3.166e-05	0.0003	0	5.597e-05	0	0.0020	0.0002	0.0006	0.0009	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0001	0.0004	0.0003	2.404e-05	0	0.0002	0	0.0004	0	0	0.0003	0	0.0010	0.536	0.06891	T	0.035	0.52389	D	0.008	0.14655	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	2.0	0.21473	T	-0.77	0.21429	N	0.071	0.04426	-0.9866	0.33445	T	0.025	0.10553	T	8	0.016070753	0.00338	T	0.009885	0.25743	T	0.022	0.04323	.	.	0.259761712551	0.25597	0.05550857490642651	0.05491	.	.	0.357490837574	0.19020	T	0.046899	0.27563	T	-0.59457	0.00157	T	-0.732151	0.04231	T	0.00242045335812812	0.00025	T	0.356464	0.08103	T	0.023786988	0.01148	0.0514782	0.08293	0.023786988	0.01148	0.0514782	0.08292	-4.342	0.28761	T	.	.	0.074	0.05231	B	.	.	-0.404907	0.02194	0.218	0.75288118324513909	0.11017	0.01933	0.05892	N	AEFDBI	0.038420	0.05435	N	-1.63626779289465	0.01094	0.0474943	-1.68882355205312	0.01187	0.0534474	0.999998776367226	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.44	-5.04	0.02742	-0.012000	0.12637	-3.978000	0.02415	-2.803000	0.00184	0.004000	0.16614	0.000000	0.08366	0.000000	0.00833	0.3006:0.2561:0.0:0.4434	5.121	0.14195	912	0.21483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2230.98	80	chr8	30138668	.	C	T	2230.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.243;DP=2037;ExcessHet=0.0000;FS=0.664;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.90;ReadPosRankSum=0.127;SOR=0.775	GT:AD:DP:GQ:PL	0/0:118,0:118:99:0,120,1800	20	0	1	0
chr8	30612318	30612318	T	C	exonic	GTF2E2	.	nonsynonymous SNV	GTF2E2:NM_001348353:exon5:c.A530G:p.N177S	Trichothiodystrophy 6, nonphotosensitive, Autosomal recessive	.	431	1090	1	0	0	1	0.000458505	.	.	1976272	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.23	T	0.82	P	0.392	B	0.000	D	1.000	D	2.485	M	1.44	T	-1.072	T	0.092	T	0.082	3.325	17.18	3.0	0.355	7.981	8.284	0.195	0.0375481953475	.	.	8.242e-06	0	0	0	0	0	0	6.06e-05	6.5e-06	1	154602	rs753435715	2.748e-06	3.42e-06	4.104e-06	1.38e-06	2.248e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	0	2.248e-05	0	0	0	0	1.807e-06	0	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.41637	D	0.091	0.40110	T	0.82	0.45712	P	0.392	0.44215	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	2.42	0.70002	M	1.43	0.32958	T	-2.3	0.51157	N	0.609	0.62611	-1.0721	0.08957	T	0.092	0.35119	T	10	0.34986436	0.51870	T	0.037548	0.57683	D	0.195	0.47612	0.387	0.40788	0.485920709088	0.48224	0.4189262570193373	0.41808	0.548597812381	0.51797	0.462943851948	0.33715	T	0.100161	0.40568	T	-0.256666	0.13294	T	-0.50583	0.21743	T	0.893369376659393	0.54458	D	0.961604	0.85550	D	0.38060296	0.59360	0.2948119	0.55512	0.38060296	0.59360	0.2948119	0.55511	-5.86	0.45093	T	0.4322260118321484	0.51916	0.098	0.25396	B	.;.	.;.	3.871695	0.56212	23.7	0.99597227228064455	0.73983	0.98645	0.85080	D	AEFBI	0.730657	0.67798	D	0.196759917083506	0.51045	3.288849	0.209403987057747	0.50369	3.229636	0.990678152396371	0.32232	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.41	3.0	0.33773	7.961000	0.87447	7.911000	0.74030	-0.133000	0.13014	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1662:0.0:0.8338	8.284	0.31080	735	0.53711	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	422.98	36	chr8	30612318	.	T	C	422.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.809e+00;DP=654;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.62;ReadPosRankSum=0.686;SOR=0.420	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1096	20	0	1	0
chr8	30751489	30751489	C	T	exonic	UBXN8	.	nonsynonymous SNV	UBXN8:NM_001282199:exon2:c.C182T:p.S61L	.	.	459	1061	2	0	0	2	0.00094162	.	.	2254530	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5e-05	0.000199681	0.0001	0.0001	0.0002	0	0	0.0002	0	0.0001	0.0001229	19	154602	rs201560333	0.0002	0.0002	0.0001	0.0002	0.0075	0.0001	0.0001	0.0057	0.0051	0.0005	0.0005	0.0018	0	0	0.0075	7.12e-05	0.0004	3.537e-05	0.0003	0.0003	0.0003	0.0003	0.0014	0.0002	0.0002	0.0010	0.0008	0.0001	0	0.0014	0.0017	0	0	0.0034	0.0001	0.0009	0.0002	.	.	.	0.018	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.29081	.	.	.	.	.	.	.	0.10255134	0.18801	T	.	.	.	.	.	.	.	0.0846915920261	0.08053	0.2873040316383458	0.28643	.	.	0.434948980808	0.29886	T	0.050289	0.28771	T	0.144277	0.68731	D	0.293411	0.87875	D	.	.	.	0.884312	0.62120	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.34862	B	.;.;.;.	.;.;.;.	4.258517	0.64698	24.7	0.81984609961062183	0.13960	0.81346	0.40769	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999918192499094	0.45857	0.163922	0.03765	0	0.18701	0.04157	0	0.175069	0.04249	0	0.24341	0.04801	0	0.97732	0.80922	5.71	5.71	0.89031	2.016000	0.40591	3.834000	0.40009	0.581000	0.30040	0.903000	0.31499	0.999000	0.35428	0.989000	0.64315	0.0:1.0:0.0:0.0	15.708	0.77358	418	0.81602	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1630.98	102	chr8	30751489	.	C	T	1630.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.304e+00;DP=1984;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=-3.050e-01;SOR=0.721	GT:AD:DP:GQ:PL	0/0:106,0:106:99:0,120,1800	20	0	1	0
chr8	30843377	30843377	G	C	exonic	TEX15	.	nonsynonymous SNV	TEX15:NM_001350162:exon8:c.C6790G:p.L2264V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	0.788	N	1.845	L	2.24	T	-1.001	T	0.101	T	0.635	2.838	15.45	5.82	2.765	3.303	12.919	0.113	0.00734289770254	.	.	9.093e-05	0	0	0	0	0	0	0.0007	7.12e-05	11	154602	rs763583018	6.162e-05	6.156e-05	3.133e-05	9.22e-05	0.0010	5.099e-05	4.719e-05	0.0008	0.0008	0	0	0	0	0	0	8.995e-07	4.971e-05	0.0010	3.946e-05	3.941e-05	2.571e-05	5.387e-05	0.0012	1.717e-05	1.13e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.009	0.57480	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000137	0.49741	D	0.000000	0.788311	0.29255	N	1.625	0.41611	L	2.24	0.17923	T	-2.53	0.54864	D	0.617	0.63289	-1.0011	0.29602	T	0.101	0.37493	T	10	0.117240876	0.22136	T	0.007343	0.19469	T	0.113	0.31778	0.25	0.18757	0.345632371893	0.34166	0.07487297666666216	0.07423	0.201576101078	0.22562	0.440563380718	0.30653	T	0.401527	0.75881	T	-0.322856	0.06666	T	-0.313242	0.43309	T	0.221147641539574	0.21521	T	0.765923	0.39354	T	0.27795193	0.50850	0.22945933	0.48018	0.24013376	0.46912	0.26013556	0.51771	-4.691	0.33295	T	.	.	0.208	0.43462	B	.;.;.	.;.;.	3.906054	0.56931	23.8	0.99793809286357682	0.87928	0.88578	0.48571	D	AEFBI	0.443138	0.50057	N	0.721099717440585	0.81014	7.424401	0.719439756221288	0.83856	8.132527	0.99100051172657	0.32341	0.615465	0.37627	0	0.573888	0.26702	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.82	5.82	0.92740	3.602000	0.53818	8.749000	0.78216	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0776:0.0:0.9224:0.0	12.919	0.57614	740	0.53092	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1773.98	33	chr8	30843377	.	G	C	1773.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.037e+00;DP=1391;ExcessHet=0.0000;FS=0.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=-1.515e+00;SOR=0.760	GT:AD:DP:GQ:PL	0/0:132,0:132:99:0,120,1800	20	0	1	0
chr8	30844900	30844900	-	A	exonic	TEX15	.	frameshift insertion	TEX15:NM_001350162:exon8:c.5266_5267insT:p.H1756Lfs*3,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2432.94	33	chr8	30844900	.	T	TA	2432.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.864e+00;DP=994;ExcessHet=0.0000;FS=0.594;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.90;ReadPosRankSum=1.17;SOR=0.634	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	20	0	1	0
chr8	30846175	30846175	G	C	exonic	TEX15	.	nonsynonymous SNV	TEX15:NM_001350162:exon8:c.C3992G:p.T1331S,	.	.	432	1075	14	1	0	16	0.00738689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.017	B	0.02	B	0.969	N	1.000	N	1.59	L	2.6	T	-0.971	T	0.022	T	0.041	1.819	12.04	0.686	0.043	0.279	3.591	0.034	0.00430006001671	0.0006	0.00119808	0.0010	0.0002	0.0018	0	0	0.0010	0.0077	0.0015	0.0009379	145	154602	rs148956340	0.0009	0.0009	0.0009	0.0010	0.0257	0.0009	0.0009	0.0223	0.0210	0.0014	0.0017	0.0003	2.521e-05	7.494e-05	0.0257	0.0007	0.0019	0.0016	0.0007	0.0007	0.0008	0.0007	0.0014	0.0006	0.0006	0.0010	0.0008	0.0003	0	0.0014	0.0009	0	0	0.0272	0.0008	0.0014	0.0014	0.012	0.54683	D	0.367	0.16619	T	0.017	0.17573	B	0.02	0.19048	B	0.969475	0.08169	N	0.984900	1	0.08975	N	0.75	0.19020	N	2.6	0.13204	T	-2.21	0.49684	N	0.078	0.05287	-0.9705	0.37094	T	0.022	0.09375	T	10	0.0069624484	0.00158	T	0.004	0.10435	T	0.034	0.08419	0.101	0.01536	0.232513804876	0.22884	0.02436997999316571	0.02387	0.031116089979	0.03224	0.26239168644	0.05178	T	0.112461	0.42875	T	-0.682087	0.00047	T	-0.782626	0.02375	T	0.00805885759368652	0.00096	T	0.448055	0.12582	T	0.09251131	0.21705	0.07791164	0.17400	0.09311825	0.21862	0.11880648	0.28677	-2.212	0.04098	T	.	.	0.119	0.24498	B	.;.;.	.;.;.	0.244736	0.06247	2.699	0.88854688603630216	0.18310	0.03914	0.09299	N	AEFBI	0.064256	0.12468	N	-0.796251217696092	0.13407	0.6602592	-0.836557450213571	0.13611	0.7070276	0.988882934110638	0.31658	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.550183	0.17644	0	.	.	5.62	0.686	0.17179	0.306000	0.19030	1.040000	0.23550	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.048000	0.15020	0.3558:0.0:0.4764:0.1678	3.591	0.07537	736	0.53558	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	2557.98	99	chr8	30846175	.	G	C	2557.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=1178;ExcessHet=0.0000;FS=7.315;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=-1.732e+00;SOR=0.648	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	20	0	1	0
chr8	30847402	30847402	A	C	exonic	TEX15	.	nonsynonymous SNV	TEX15:NM_001350162:exon8:c.T2765G:p.F922C,	.	.	445	1073	4	0	0	4	0.00186047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.99	D	0.799	P	0.435	N	1.000	N	0.895	L	2.39	T	-1.068	T	0.053	T	0.471	1.830	12.08	4.31	1.019	2.745	7.152	0.101	0.0133477258703	.	.	9.184e-05	0	0	0	0	1.517e-05	0	0.0006	7.12e-05	11	154602	rs779858055	3.972e-05	3.967e-05	1.226e-05	6.747e-05	0.0006	3.116e-05	2.85e-05	0.0005	0.0005	0	0	0	0	0	0.0002	0	3.315e-05	0.0006	1.972e-05	1.97e-05	0	4.038e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.996e-05	0	0	0	0	0	0	0	0	0	0.0006	0.007	0.59928	D	0.123	0.35582	T	0.99	0.63424	D	0.799	0.58136	P	0.435470	0.12695	N	0.711940	1	0.08975	N	2.095	0.58118	M	2.39	0.15724	T	-4.41	0.77391	D	0.499	0.53181	-1.0683	0.09791	T	0.053	0.22655	T	10	0.104718775	0.19321	T	0.013348	0.32685	T	0.101	0.28911	0.364	0.37036	0.239901079897	0.23603	0.39103944401596635	0.39018	0.190035660652	0.21322	0.334791302681	0.15657	T	0.301232	0.67369	T	-0.386658	0.02826	T	-0.431273	0.29791	T	0.964259266853333	0.66902	D	0.467453	0.13767	T	0.17024297	0.37587	0.18588294	0.41727	0.17024297	0.37587	0.18588294	0.41726	-3.254	0.13151	T	.	.	0.170	0.37445	B	.;.;.	.;.;.	3.080122	0.41431	21.4	0.981774752899227	0.38916	0.34860	0.25167	N	AEBHCI	0.242742	0.36414	N	-0.0910139245980518	0.37786	2.203409	-0.20617965058635	0.31313	1.770977	0.999972387892321	0.50053	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.46	4.31	0.50718	2.738000	0.47075	5.226000	0.48015	0.756000	0.94297	0.034000	0.20669	1.000000	0.68203	0.572000	0.30699	0.8253:0.0:0.1747:0.0	7.152	0.24793	734	0.53889	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1454.98	99	chr8	30847402	.	A	C	1454.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=1159;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=-1.070e-01;SOR=0.677	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	20	0	1	0
chr8	30858685	30858685	C	T	exonic	TEX15	.	nonsynonymous SNV	TEX15:NM_001350162:exon7:c.G833A:p.G278E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	8.87e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs565640383	2.896e-06	3.42e-06	2.858e-06	2.934e-06	1.272e-05	6.8e-07	4.6e-07	.	.	0	0	0	0	0	0	0	5.189e-05	1.272e-05	1.314e-05	1.313e-05	0	2.687e-05	0.0004	2.18e-06	8.2e-07	7.296e-05	3.031e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13843596	0.26328	T	.	.	.	.	.	.	.	.	.	0.07770486596473133	0.07706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.562644	0.19782	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43144	B	.;.	.;.	2.525325	0.32641	19.10	0.66800983339950248	0.08165	0.75365	0.36897	D	AEFI	.	.	.	.	.	.	.	.	.	0.176379645849164	0.17809	0.162113	0.03585	0	0.063388	0.01293	0	0.175069	0.04249	0	0.223356	0.04673	0	0.861014	0.52826	5.87	4.99	0.65942	0.723000	0.25609	3.323000	0.37562	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.346000	0.25568	0.156:0.7652:0.0:0.0788	8.388	0.31671	722	0.55239	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1137.98	33	chr8	30858685	.	C	T	1137.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.621;DP=791;ExcessHet=0.0000;FS=0.756;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.84;ReadPosRankSum=1.16;SOR=0.841	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1248	20	0	1	0
chr8	31058542	31058542	A	G	exonic	WRN	.	nonsynonymous SNV	WRN:NM_000553:exon2:c.A95G:p.K32R,	Werner syndrome, Autosomal recessive	YES	4	1513	5	0	0	5	0.00164962	0.9915	0.7	139162	not_provided|Werner_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0010196,MedGen:C0043119,OMIM:277700,Orphanet:902|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.704	P	0.277	B	0.023	N	0.992	N	1.995	M	0.59	T	-0.904	T	0.152	T	0.178	3.367	17.35	3.68	0.854	5.763	9.727	0.105	0.0156390117289	0.0030	0.00119808	0.0037	0.0010	0.0016	0	0.0006	0.0060	0	0.0009	0.0006727	104	154602	rs34477820	0.0039	0.0040	0.0039	0.0040	0.0048	0.0039	0.0038	0.0047	0.0046	0.0007	0.0018	0.0003	5.048e-05	0.0013	0.0012	0.0048	0.0031	0.0009	0.0030	0.0030	0.0035	0.0025	0.0054	0.0028	0.0027	0.0050	0.0048	0.0008	0	0.0027	0.0009	0	0.0005	0.0068	0.0054	0.0019	0.0002	0.017	0.51248	D	0.02	0.58613	D	0.704	0.41950	P	0.277	0.40197	B	0.023392	0.26452	N	0.299988	0.991981	0.23953	N	2.36	0.67893	M	0.59	0.53943	T	-1.58	0.38151	N	0.208	0.23125	-0.9045	0.47504	T	0.152	0.48032	T	10	0.0048146844	0.00102	T	0.015639	0.36485	T	0.105	0.29889	.	.	0.749798479323	0.74753	0.5153133627811298	0.51454	0.27939505312	0.30432	0.373518764973	0.21335	T	0.296694	0.66932	T	-0.439409	0.01304	T	-0.401484	0.33211	T	0.0308317523910558	0.02119	T	0.693931	0.30359	T	0.10012978	0.23639	0.1253447	0.30204	0.10012978	0.23639	0.1253447	0.30203	-4.32	0.28457	T	.	.	0.086	0.10642	B	.	.	4.401468	0.68008	25.2	0.99827197569984416	0.90939	0.98093	0.79538	D	AEFBI	0.390853	0.46952	N	0.155038185658775	0.49051	3.109867	0.149972573789508	0.47139	2.948793	0.999651471211587	0.41424	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.87	3.68	0.41359	5.788000	0.68670	7.800000	0.69123	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.8395:0.0:0.0:0.1605	9.727	0.39508	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1268.98	34	chr8	31058542	.	A	G	1268.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.000e-03;DP=802;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.10;ReadPosRankSum=0.750;SOR=0.629	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1062	20	0	1	0
chr8	31639995	31639995	G	C	exonic	NRG1	.	nonsynonymous SNV	NRG1:NM_013962:exon1:c.G11C:p.R4P,	.	.	388	1119	14	1	0	16	0.00709849	.	.	104274	not_provided	MedGen:C3661900	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0	D	0.895	P	0.18	B	.	.	1.000	D	.	.	-1.2	T	-0.643	T	0.236	T	0.208	1.920	12.38	1.98	1.332	3.653	5.162	0.301	0.997998152407	.	.	0	0	0	0	.	0	0	0	0.00011	17	154602	rs367543150	0.0004	0.0004	0.0004	0.0005	0.0043	0.0004	0.0004	0.0026	0.0021	0	0.0004	0.0034	0	6.752e-05	0.0043	0.0004	0.0007	0.0001	0.0006	0.0006	0.0007	0.0004	0.0009	0.0005	0.0004	0.0006	0.0005	7.273e-05	0	0.0009	0.0035	0	0	0.0102	0.0007	0.0010	0	0.0	0.91255	D	0.0	0.92824	D	0.895	0.49247	P	0.18	0.35854	B	.	.	.	.	1	0.81001	D	.	.	.	-1.2	0.78537	T	0.79	0.01893	N	0.532	0.56058	-0.6431	0.63013	T	0.236	0.60355	T	8	0.021544874	0.00518	T	0.997998	0.99997	D	0.301	0.62179	.	.	0.440148150062	0.43634	.	.	.	.	.	.	.	.	.	.	-0.325522	0.06456	T	-0.290807	0.45689	T	0.23651533785535	0.22258	T	0.473453	0.15758	T	.	.	.	.	.	.	.	.	-3.394	0.14976	T	.	.	0.198	0.51201	B	.;.	.;.	2.570187	0.33303	19.30	0.98015627080999068	0.37589	0.70733	0.34713	D	AEFDBCI	0.498809	0.53275	N	0.0635187341004716	0.44767	2.744761	0.0472924769976856	0.41941	2.528304	0.996339271546913	0.34675	0.497415	0.19182	0	0.59043	0.45803	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	2.91	1.98	0.25351	3.585000	0.53686	4.179000	0.42325	0.334000	0.19664	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.1749:0.0:0.8251:0.0	5.162	0.14392	875	0.30485	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1479.98	33	chr8	31639995	.	G	C	1479.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.610e+00;DP=873;ExcessHet=0.0000;FS=2.973;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=1.01;SOR=0.468	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1323	20	0	1	0
chr8	32722003	32722003	A	G	exonic	NRG1	.	startloss	NRG1:NM_001159996:exon1:c.A1G:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.001	B	0.002	B	.	.	1.000	D	.	.	2.4	T	-1.079	T	0.039	T	0.323	0.945	8.854	2.28	0.949	1.043	6.973	0.050	0.0505290386775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.06	0.20523	T	-0.07	0.08033	N	0.427	0.46649	-1.0795	0.07446	T	0.039	0.16720	T	8	0.40556931	0.55868	T	0.050529	0.64278	D	0.050	0.13987	0.729	0.86286	0.402330500708	0.39847	.	.	.	.	.	.	.	0.240727	0.60911	T	-0.160131	0.26741	T	-0.467794	0.25753	T	0.231429532170296	0.22019	T	0.9	0.65058	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	1.421829	0.18386	13.71	0.96071650006009179	0.28626	0.06446	0.12453	N	AEFGBCI	0.039092	0.05628	N	-0.326093426063835	0.28160	1.550943	-0.242092747849413	0.30045	1.688316	0.999999079601348	0.74766	0.541725	0.22260	1	0.573888	0.26702	0	0.459889	0.06779	1	0.631631	0.49550	0	.	.	4.94	2.28	0.27583	1.200000	0.31854	4.865000	0.45508	0.750000	0.87069	0.957000	0.33433	1.000000	0.68203	0.728000	0.35033	0.6108:0.0:0.0:0.3892	6.973	0.23840	838	0.37812	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1126.98	34	chr8	32722003	.	A	G	1126.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.549;DP=773;ExcessHet=0.0000;FS=0.772;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=0.264;SOR=0.582	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1102	20	0	1	0
chr8	33512474	33512474	A	T	exonic	TTI2	.	nonsynonymous SNV	TTI2:NM_025115:exon1:c.T140A:p.V47E	Mental retardation, autosomal recessive 39, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.009	B	0.008	B	0.834	N	1.000	N	0	N	0.86	T	-1.006	T	0.069	T	0.185	1.333	10.37	-2.96	-0.358	-0.315	12.173	0.035	0.00724885718775	.	.	8.241e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs770638379	4.789e-06	4.789e-06	4.084e-06	5.5e-06	6.295e-06	1.99e-06	1.28e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.295e-06	0	0	1.315e-05	1.313e-05	1.285e-05	1.346e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.122	0.53900	T	0.313	0.51112	T	0.003	0.11197	B	0.003	0.08700	B	0.833538	0.09087	N	0.905352	1	0.08975	N	0	0.06538	N	0.58	0.54149	T	-0.25	0.42001	N	0.149	0.18649	-1.0062	0.28095	T	0.069	0.28346	T	10	0.05335453	0.05513	T	0.007249	0.19225	T	0.035	0.08770	0.36	0.36385	0.0297737177859	0.01360	0.19822833989105404	0.19739	0.230916815466	0.25639	0.392930746078	0.24082	T	0.003388	0.36406	T	-0.236106	0.15849	T	-0.561441	0.16242	T	0.060049287929946	0.07177	T	0.448055	0.12582	T	0.06845058	0.14913	0.10467557	0.25145	0.06845058	0.14913	0.10467557	0.25144	-2.504	0.05808	T	0.07958464414114258	0.03931	0.094	0.27343	B	.;.;.;.;.	.;.;.;.;.	0.058590	0.04700	1.340	0.41764110565520696	0.03034	0.03003	0.07868	N	AEFDGBCIJ	0.049588	0.08583	N	-1.82840700314169	0.00479	0.02063185	-1.82253671196033	0.00690	0.03070662	0.999995686162284	0.74766	0.627647	0.40530	0	0.685571	0.66316	0	0.672317	0.60874	0	0.657601	0.63696	0	.	.	4.53	-2.96	0.05212	-0.309000	0.08185	0.531000	0.19249	-1.911000	0.00515	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0834:0.6573:0.2593:0.0	12.173	0.53476	862	0.33134	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2993.98	168	chr8	33512474	.	A	T	2993.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.38;DP=2880;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.82;ReadPosRankSum=1.39;SOR=0.676	GT:AD:DP:GQ:PL	0/0:190,0:190:99:0,120,1800	20	0	1	0
chr8	35726320	35726320	T	C	exonic	UNC5D	.	nonsynonymous SNV	UNC5D:NM_001322818:exon10:c.T1457C:p.V486A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.817	P	0.23	B	0.000	D	1.000	D	1.355	L	2.47	T	-0.984	T	0.126	T	0.701	2.584	14.60	6.04	2.317	7.494	16.588	0.130	0.0149258101995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	0.10311	T	0.386	0.50514	T	0.067	0.45613	B	0.008	0.38212	B	0.000017	0.62929	D	0.121009	0.999994	0.58761	D	1.435	0.35949	L	0.58	0.54911	T	-0.49	0.19720	N	0.862	0.85872	-0.9838	0.34116	T	0.126	0.43215	T	10	0.37111577	0.53482	T	0.014926	0.35361	T	0.130	0.35528	0.313	0.28774	0.128874641272	0.12493	0.5101651304021944	0.50938	0.574329865331	0.53469	0.801472067833	0.82187	T	0.020247	0.15979	T	0.0748664	0.61435	D	-0.130236	0.60953	T	0.615844070911407	0.37036	D	0.954705	0.84742	D	0.091451235	0.21428	0.112271145	0.27087	0.091451235	0.21428	0.112271145	0.27087	-1.9	0.02896	T	.	.	0.738	0.80299	P	.;.;.;.;.;.	.;.;.;.;.;.	3.194132	0.43412	21.7	0.97824912644889783	0.36220	0.99717	0.98923	D	AEFBI	0.911048	0.86980	D	0.134401183547886	0.48074	3.024387	0.323756544504038	0.56940	3.858172	0.999999942507708	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.564101	0.26826	0	.	.	6.04	6.04	0.98025	7.472000	0.79998	7.895000	0.73253	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.588	0.84597	611	0.66908	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2430.98	35	chr8	35726320	.	T	C	2430.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.92;DP=887;ExcessHet=0.0000;FS=1.843;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.66;ReadPosRankSum=0.885;SOR=0.844	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,112,1504	20	0	1	0
chr8	36784573	36784573	T	C	exonic	KCNU1	.	nonsynonymous SNV	KCNU1:NM_001031836:exon1:c.T163C:p.W55R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.84	T	0.001	B	0.002	B	.	.	1.000	N	1.245	L	1.65	T	-0.987	T	0.040	T	0.336	0.707	7.770	0.023	0.050	-0.231	1.363	0.040	0.00413765413026	.	.	0.0001	0.0001	0	0	0	0	0	0.0009	9.06e-05	14	154602	rs769775285	6.98e-05	6.977e-05	2.996e-05	0.0001	0.0010	5.849e-05	5.459e-05	0.0009	0.0008	0	0	0	2.52e-05	0	0.0002	1.799e-06	0.0001	0.0010	4.601e-05	4.597e-05	2.57e-05	6.727e-05	0.0008	2.11e-05	1.527e-05	0.0003	0.0002	4.827e-05	0	6.547e-05	0	0	0	0	0	0	0.0008	0.359	0.12226	T	0.298	0.20486	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	2.125	0.59049	M	1.65	0.28002	T	-1.16	0.35792	N	0.164	0.17278	-0.9869	0.33371	T	0.040	0.17020	T	9	0.03015834	0.01142	T	0.004138	0.09931	T	0.040	0.10527	0.578	0.70347	0.204665344411	0.20097	0.09103759594314138	0.09036	0.0276532361492	0.02828	0.323356389999	0.13929	T	0.054605	0.29771	T	-0.49809	0.00586	T	-0.551627	0.17169	T	0.0437602661550045	0.04377	T	0.259474	0.04134	T	0.049234554	0.08710	0.058695618	0.10888	0.049234554	0.08709	0.058695618	0.10888	-2.201	0.04045	T	.	.	0.186	0.49826	B	.;.	.;.	0.075398	0.04829	1.429	0.39477262648273631	0.02726	0.02012	0.06052	N	AEFI	0.044632	0.07205	N	-1.25268577356757	0.04264	0.192119	-1.26077449868011	0.04973	0.2359002	1.1546831009234E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.49	0.023	0.13454	-0.241000	0.08958	0.076000	0.14327	-0.121000	0.13915	0.003000	0.16062	0.002000	0.18203	0.005000	0.06747	0.3665:0.0862:0.1491:0.3983	1.363	0.02064	745	0.52414	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1306.98	33	chr8	36784573	.	T	C	1306.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.542e+00;DP=807;ExcessHet=0.0000;FS=5.396;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=-1.043e+00;SOR=0.336	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1207	20	0	1	0
chr8	36784574	36784574	G	A	exonic	KCNU1	.	stopgain	KCNU1:NM_001031836:exon1:c.G164A:p.W55X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	3.710	18.84	0.231	0.352	0.528	1.358	.	.	.	.	8.87e-06	0	0	0	0	0	0	6.722e-05	6.5e-06	1	154602	.	6.844e-07	6.84e-07	1.362e-06	0	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.046	0.01825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15831	0.70044	D	-0.0103746	0.69660	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	5.343109	0.89648	31	0.9786029901293809	0.36458	0.02242	0.06502	N	AEFI	0.029209	0.02714	N	0.178575956277875	0.50170	3.209744	-0.194346788825439	0.31743	1.799349	1.16167923572184E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.49	0.231	0.14648	0.543000	0.22945	1.715000	0.28221	0.676000	0.76740	0.005000	0.17040	0.207000	0.23614	0.007000	0.07825	0.2315:0.1529:0.4585:0.1572	1.358	0.02055	745	0.52414	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1842.98	33	chr8	36784574	.	G	A	1842.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.46;DP=832;ExcessHet=0.0000;FS=3.470;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.11;ReadPosRankSum=0.309;SOR=1.031	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1207	20	0	1	0
chr8	36922624	36922624	G	A	exonic	KCNU1	.	nonsynonymous SNV	KCNU1:NM_001031836:exon24:c.G2731A:p.A911T,	.	.	431	1085	6	0	0	6	0.00275735	.	.	736637	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.976	D	0.023	U	1.000	D	1.6	L	1.48	T	-0.930	T	0.147	T	0.539	4.443	23.7	5.42	2.543	3.296	11.826	0.185	0.0136418166909	0.0013	0.000199681	0.0014	0	0.0008	0.0001	0	0.0023	0.0034	0.0005	0.0013066	202	154602	rs189989959	0.0010	0.0010	0.0010	0.0010	0.0113	0.0010	0.0009	0.0091	0.0083	0.0003	0.0012	0.0272	5.044e-05	0	0.0113	0.0004	0.0023	0.0006	0.0010	0.0010	0.0010	0.0010	0.0009	0.0009	0.0008	0.0006	0.0004	4.818e-05	0.0011	0.0009	0.0268	0	0	0.0068	0.0005	0.0009	0.0004	0.001	0.78490	D	0.008	0.67890	D	1.0	0.90584	D	0.976	0.73562	D	0.023245	0.26477	U	0.247728	0.726725	0.29869	N	2.42	0.70002	M	1.48	0.31731	T	-0.97	0.25770	N	0.588	0.60833	-0.9305	0.44066	T	0.147	0.47129	T	10	0.012706041	0.00272	T	0.013642	0.33196	T	0.185	0.45933	.	.	0.65198356138	0.64908	0.317710406878158	0.31684	0.161037688704	0.18175	0.523856461048	0.42169	T	0.111198	0.42651	T	-0.352998	0.04542	T	-0.330274	0.41438	T	0.0598396287553804	0.07144	T	0.79972	0.44511	T	0.4521955	0.64180	0.20115393	0.44081	0.4521955	0.64181	0.20115393	0.44080	-6.59	0.50976	T	.	.	0.301	0.53103	B	.	.	4.533905	0.71201	25.6	0.99903789056643533	0.97502	0.82760	0.41945	D	AEFBI	0.302635	0.41082	N	0.653006896869575	0.76564	6.50971	0.64970629676235	0.78588	6.906721	0.0243108533231629	0.13569	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	3.353000	0.51962	11.449000	0.92791	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.8253:0.1747	11.826	0.51543	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	709.98	33	chr8	36922624	.	G	A	709.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.711e+00;DP=717;ExcessHet=0.0000;FS=1.131;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.92;ReadPosRankSum=-8.140e-01;SOR=0.507	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1173	20	0	1	0
chr8	37765583	37765583	A	G	exonic	PLPBP	.	startloss	PLPBP:NM_001349346:exon2:c.A157G:p.M53V	Epilepsy, early-onset, vitamin B6-dependent, Autosomal recessive	.	432	1057	33	0	0	33	0.0153703	.	.	700577	Epilepsy,_early-onset,_vitamin_B6-dependent|not_provided|PLPBP-related_disorder	MONDO:MONDO:0015005,MedGen:C4310632,OMIM:617290|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.38	T	0.03	B	0.036	B	0.000	N	1.000	D	0.375	N	1.1	T	-1.097	T	0.041	T	0.519	2.627	14.74	3.19	0.399	4.068	7.911	0.165	.	0.0025	0.00299521	0.0040	0.0002	0.0016	0	0	0.0044	0.0044	0.0105	0.0037386	578	154602	rs79148472	0.0030	0.0030	0.0026	0.0033	0.0114	0.0029	0.0029	0.0108	0.0106	0.0003	0.0025	0.0360	0	9.362e-05	0.0097	0.0017	0.0052	0.0114	0.0036	0.0036	0.0036	0.0037	0.0118	0.0034	0.0033	0.0094	0.0085	0.0004	0.0581	0.0068	0.0349	0.0002	0	0.0102	0.0027	0.0066	0.0118	0.186	0.43708	T	0.269	0.65728	T	0.03	0.20002	B	0.036	0.22909	B	0.000002	0.62929	N	0.129180	0.999947	0.51968	D	.	.	.	1.1	0.39050	T	-1.26	0.33197	N	0.363	0.40465	-1.0971	0.04460	T	0.041	0.17488	T	10	0.0074546933	0.00234	T	.	.	.	0.165	0.42395	.	.	0.375326005269	0.37140	0.6676253969053125	0.66700	0.393107289621	0.40487	0.498717695475	0.38649	T	0.115455	0.43406	T	-0.397739	0.02396	T	-0.334706	0.40943	T	0.0174620146107762	0.00482	T	0.870713	0.70943	D	0.16238672	0.36311	0.24272025	0.49699	0.18322273	0.39578	0.25851876	0.51584	-9.208	0.69025	D	0.2352886415509135	0.31858	0.132	0.28406	B	.;.;.	.;.;.	1.941475	0.24657	16.48	0.98291450862916874	0.39954	0.96462	0.69259	D	AEFBI	0.543781	0.55897	D	-0.351469607905831	0.27217	1.491578	-0.161590075980083	0.32965	1.880748	0.999970943173882	0.50053	0.706548	0.73137	0	0.685571	0.66316	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.61	3.19	0.35720	4.095000	0.57456	2.187000	0.31177	0.756000	0.94297	1.000000	0.71638	0.995000	0.32472	0.997000	0.79791	0.79:0.1383:0.0717:0.0	7.911	0.28952	798	0.45050	Alanine racemase, N-terminal;Alanine racemase, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	697.98	33	chr8	37765583	.	A	G	697.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.493e+00;DP=760;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.42;ReadPosRankSum=-1.465e+00;SOR=0.812	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr8	37831553	37831553	G	A	exonic	ADGRA2	.	nonsynonymous SNV	ADGRA2:NM_032777:exon8:c.G1063A:p.A355T,	.	.	426	1076	19	1	0	21	0.00966406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.993	D	0.784	P	0.000	D	0.990	D	1.355	L	0.59	T	-0.883	T	0.157	T	0.289	2.221	13.38	5.22	2.458	7.714	15.227	0.215	.	0.0052	0.00419329	0.0053	0.0016	0.0017	0.0002	0.0055	0.0047	0.0022	0.0155	0.0052069	805	154602	rs148701575	0.0062	0.0062	0.0060	0.0064	0.0150	0.0061	0.0061	0.0144	0.0141	0.0013	0.0017	0.0006	7.557e-05	0.0041	0.0054	0.0064	0.0053	0.0150	0.0039	0.0039	0.0040	0.0038	0.0141	0.0036	0.0035	0.0114	0.0104	0.0010	0	0.0023	0.0006	0.0002	0.0052	0	0.0057	0.0009	0.0141	0.049	0.39820	D	0.155	0.31936	T	0.993	0.65571	D	0.784	0.57456	P	0.000158	0.49130	D	0.136731	0.901768	0.41096	D	.	.	.	0.59	0.53943	T	-1.33	0.33197	N	0.58	0.66016	-0.8833	0.49497	T	0.157	0.48959	T	10	0.009638995	0.00217	T	.	.	.	0.215	0.50805	.	.	0.420939154896	0.41709	0.6182339843626599	0.61756	0.352897923945	0.37108	0.522005915642	0.41908	T	0.183341	0.53565	T	-0.42039	0.01700	T	-0.364313	0.37552	T	0.0362762037669932	0.03028	T	0.80112	0.75644	T	0.040327933	0.05735	0.07922838	0.17819	0.040327933	0.05735	0.07922838	0.17818	-7.261	0.55918	T	.	.	0.107	0.27161	B	.;.	.;.	3.340449	0.46023	22.2	0.99361598056235911	0.61029	0.92308	0.55412	D	AEFDGBHCI	0.899131	0.84318	D	0.29915241187772	0.56106	3.774881	0.301946978156592	0.55653	3.72825	0.999999999897871	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.22	5.22	0.72285	6.638000	0.74166	9.763000	0.81520	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.072000	0.16771	0.0:0.1409:0.8591:0.0	15.227	0.73048	783	0.47268	.;GPCR, family 2, extracellular hormone receptor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2263.11	39	chr8	37831553	.	G	A	2263.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.460e-01;DP=885;ExcessHet=0.1072;FS=1.118;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.37;ReadPosRankSum=0.921;SOR=0.598	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1364	19	0	2	0
chr8	37840193	37840193	A	G	exonic	ADGRA2	.	nonsynonymous SNV	ADGRA2:NM_032777:exon17:c.A2584G:p.K862E,	.	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	3.15	M	0.96	T	-0.273	T	0.307	T	0.56	3.802	19.31	3.95	1.780	8.962	13.277	0.376	0.0488535391302	7.7e-05	0.000199681	2.499e-05	0	8.682e-05	0	0	3.037e-05	0	0	2.59e-05	4	154602	rs183489099	4.451e-05	4.446e-05	3.68e-05	5.23e-05	0.0007	3.579e-05	3.261e-05	0.0002	0.0002	0	0.0003	3.828e-05	0	0	0.0007	2.878e-05	0.0001	6.956e-05	7.882e-05	7.874e-05	6.428e-05	9.402e-05	0.0005	4.495e-05	3.511e-05	0.0002	0.0002	2.407e-05	0	0.0005	0	0	0	0.0034	1.471e-05	0.0009	0	0.002	0.72154	D	0.0	0.92824	D	0.99	0.90584	D	0.937	0.88582	D	0.000001	0.84330	D	0.054146	0.968704	0.58761	D	.	.	.	0.96	0.42888	T	-3.63	0.71519	D	0.849	0.84505	-0.2726	0.75741	T	0.307	0.67813	T	10	0.7192172	0.73549	D	0.048854	0.63557	D	0.376	0.69443	.	.	0.548145191872	0.54469	0.8620912698444394	0.86173	1.13689498608	0.78811	0.740391969681	0.73030	T	0.401151	0.75853	T	-0.183443	0.23226	T	-0.207792	0.53905	T	0.79077935218811	0.45741	D	0.891611	0.64770	D	0.81831884	0.85107	0.8191363	0.89483	0.81831884	0.85108	0.8191363	0.89483	-12.459	0.87015	D	.	.	0.635	0.70296	P	.;.	.;.	5.083086	0.84841	28.4	0.99811337233052977	0.89531	0.95866	0.66491	D	AEFDBCI	0.955198	0.97287	D	0.688612122798866	0.78885	6.962768	0.540967094332559	0.70769	5.554443	0.999999999991864	0.74766	0.695654	0.57023	0	0.550933	0.16991	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	3.95	3.95	0.44952	9.041000	0.93262	9.217000	0.79272	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	1.0:0.0:0.0:0.0	13.277	0.59627	794	0.45591	.;GPCR, family 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1114.98	34	chr8	37840193	.	A	G	1114.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.020e+00;DP=761;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.07;ReadPosRankSum=-6.430e-01;SOR=0.629	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1012	20	0	1	0
chr8	37849770	37849770	C	T	exonic	BRF2	.	nonsynonymous SNV	BRF2:NM_018310:exon1:c.G14A:p.G5D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.549	P	0.172	B	0.052	N	0.915	N	0.895	L	.	.	-1.047	T	0.057	T	0.358	3.688	18.74	6.07	2.884	2.035	10.604	0.090	0.000938575558447	.	0.000599042	2.228e-05	0	0	0	0	4.103e-05	0	0	3.23e-05	5	154602	rs143761460	2.058e-06	2.736e-06	4.095e-06	0	9e-07	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	9e-07	3.322e-05	0	2.625e-05	2.624e-05	1.284e-05	4.026e-05	5.878e-05	8.13e-06	5.13e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.878e-05	0	0	0.084	0.37966	T	0.2	0.38160	T	0.549	0.38101	P	0.172	0.35394	B	0.051940	0.22938	N	0.483231	0.915475	0.27413	N	1.39	0.34934	L	.	.	.	-0.15	0.25332	N	0.355	0.47022	-1.0470	0.15246	T	0.057	0.23828	T	9	0.054270178	0.05752	T	9.39E-4	0.00934	T	0.090	0.26093	.	.	0.644361271733	0.64141	0.47271221322474855	0.47190	0.286669972311	0.31060	0.486126124859	0.36902	T	0.008121	0.07471	T	-0.0535694	0.43903	T	-0.294454	0.45307	T	0.471762508153915	0.31595	T	0.824218	0.48580	T	0.13129869	0.30610	0.22854657	0.47900	0.13129869	0.30609	0.22854657	0.47899	-7.929	0.60586	D	.	.	0.111	0.23605	B	.;.;.	.;.;.	2.909784	0.38592	20.8	0.99158589066349179	0.54015	0.20732	0.21148	N	AEFGBHCIJ	0.173691	0.30079	N	-0.0652593658006497	0.38923	2.287265	0.0670322204903362	0.42903	2.603281	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	6.07	6.07	0.98675	2.258000	0.42905	3.955000	0.40703	0.599000	0.40250	0.011000	0.18532	0.983000	0.30585	0.995000	0.73285	0.0:0.8574:0.0:0.1426	10.604	0.44574	799	0.44747	Zinc finger, TFIIB-type;Zinc finger, TFIIB-type;Zinc finger, TFIIB-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	788.98	25	chr8	37849770	.	C	T	788.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.740e-01;DP=738;ExcessHet=0.0000;FS=3.141;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.79;ReadPosRankSum=1.32;SOR=0.286	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr8	37875052	37875052	G	A	exonic	RAB11FIP1	.	nonsynonymous SNV	RAB11FIP1:NM_001002814:exon3:c.C1085T:p.A362V	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.178	B	0.021	B	0.014	N	0.974	N	1.25	L	2.5	T	-1.056	T	0.063	T	0.136	0.613	7.299	3.16	0.505	3.218	9.977	0.057	0.0121970140247	0.0002	.	3.295e-05	9.615e-05	0	0	0	4.497e-05	0	0	4.53e-05	7	154602	rs373634322	0.0002	0.0002	0.0001	0.0002	0.0009	0.0002	0.0001	0.0006	0.0006	2.987e-05	0	0	0.0009	0	0.0002	0.0002	0.0001	3.478e-05	0.0001	0.0001	0.0001	0.0001	0.0004	9.742e-05	8.256e-05	0.0001	9.9e-05	0.0001	0	0	0	0.0004	0	0	0.0002	0	0	0.148	0.30515	T	0.143	0.33219	T	0.004	0.28960	B	0.006	0.19346	B	0.013608	0.28787	N	0.299707	0.974269	0.25501	N	2.77	0.80896	M	2.08	0.34452	T	-2.8	0.59710	D	0.109	0.20129	-1.0562	0.12724	T	0.063	0.26279	T	10	0.080339134	0.13028	T	0.012197	0.30559	T	0.057	0.16321	.	.	0.373173300195	0.36924	0.35435021332571776	0.35349	0.0758758493088	0.08513	0.310993671417	0.12057	T	0.009937	0.21454	T	-0.385469	0.02876	T	-0.527048	0.19582	T	0.0718707242309677	0.08911	T	0.722228	0.34152	T	0.04668563	0.07854	0.08920991	0.20848	0.04668563	0.07854	0.08920991	0.20847	-7.221	0.56074	T	.	.	0.138	0.32202	B	.;.;.;.	.;.;.;.	2.161898	0.27541	17.50	0.912911568538048	0.20551	0.88645	0.48671	D	AEFBHCI	0.296400	0.40626	N	-0.737236363306492	0.14982	0.7510659	-0.660861233235276	0.17942	0.9563396	0.999983652385054	0.51787	0.730579	0.87903	0	0.749866	0.99406	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	4.94	3.16	0.35406	2.514000	0.45164	5.902000	0.50901	-0.727000	0.03751	0.918000	0.31901	1.000000	0.68203	0.018000	0.11154	0.1581:0.0:0.8419:0.0	9.977	0.40962	799	0.44747	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1312.98	37	chr8	37875052	.	G	A	1312.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.960e-01;DP=786;ExcessHet=0.0000;FS=2.748;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.27;ReadPosRankSum=1.03;SOR=0.523	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1264	20	0	1	0
chr8	37934471	37934471	T	-	exonic	GOT1L1	.	frameshift deletion	GOT1L1:NM_152413:exon9:c.1088delA:p.Y363Sfs*26,	.	.	434	1084	0	2	2	6	0.00184162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.00678914	0.0021	0.0002	8.639e-05	0.0268	0.0003	0.0001	0.0022	0.0007	0.0019534	302	154602	rs201462725	0.0009	0.0009	0.0009	0.0009	0.0284	0.0009	0.0008	0.0270	0.0264	8.969e-05	8.952e-05	0	0.0284	5.618e-05	0.0002	3.78e-05	0.0014	0.0007	0.0012	0.0012	0.0011	0.0014	0.0298	0.0011	0.0010	0.0260	0.0245	0.0002	0	0.0005	0	0.0298	0.0005	0	2.94e-05	0.0019	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1337.94	42	chr8	37934470	.	GT	G	1337.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.654;DP=805;ExcessHet=0.0000;FS=1.744;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.70;ReadPosRankSum=-1.040e-01;SOR=0.929	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1338	20	0	1	0
chr8	37965457	37965457	T	C	exonic	ADRB3	.	nonsynonymous SNV	ADRB3:NM_000025:exon1:c.A1013G:p.N338S,	.	.	.	.	.	.	.	.	.	.	.	1037865	not_specified|not_provided|Obesity	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.895	M	0.89	T	-0.518	T	0.273	T	0.353	2.833	15.44	3.51	0.840	7.788	10.069	0.540	0.157660309876	.	.	0.0001	0	0	0	0	0.0003	0	0	3.88e-05	6	154602	rs200277866	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0002	0.0001	0	0.0003	0.0025	0	0	0.0005	0.0002	0.0004	2.524e-05	0.0001	0.0001	0.0001	0.0001	0.0002	9.158e-05	7.711e-05	9.054e-05	7.016e-05	0	0	0.0001	0.0023	0	0	0	0.0002	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999962	0.52935	D	2.835	0.82492	M	0.89	0.45636	T	-4.83	0.80943	D	0.811	0.80669	-0.5176	0.68004	T	0.273	0.64474	T	10	0.18465862	0.33851	T	0.15766	0.83820	D	0.540	0.80782	.	.	0.886752254221	0.88563	0.7841723744620793	0.78368	1.74758098799	0.90959	0.651255011559	0.60164	T	0.329668	0.69995	T	-0.232131	0.16367	T	-0.281074	0.46695	T	0.393826553880693	0.28710	T	0.983302	0.94339	D	0.8902035	0.90525	0.8625271	0.92352	0.8902035	0.90526	0.8625271	0.92352	-8.355	0.63465	D	.	.	0.634	0.70276	P	.;.	.;.	4.743851	0.76536	26.5	0.99420556734893883	0.63742	0.97333	0.74089	D	AEFDBCI	0.913854	0.87641	D	0.415743525701794	0.62287	4.442172	0.295100828402966	0.55252	3.688486	0.999999685199411	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.66	3.51	0.39297	7.938000	0.87136	6.075000	0.53293	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.895000	0.43227	0.0:0.0795:0.0:0.9205	10.069	0.41497	593	0.68665	.;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1249.98	40	chr8	37965457	.	T	C	1249.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.190e-01;DP=907;ExcessHet=0.0000;FS=2.428;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.06;ReadPosRankSum=0.719;SOR=0.980	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1110	20	0	1	0
chr8	37965965	37965965	A	G	exonic	ADRB3	.	nonsynonymous SNV	ADRB3:NM_000025:exon1:c.T505C:p.S169P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.88	H	0.88	T	0.033	D	0.378	T	0.96	4.670	25.7	4.36	1.956	8.967	13.659	0.765	0.31155682712	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs764367690	9.215e-06	1.026e-05	5.606e-06	1.291e-05	8.714e-05	5.14e-06	3.96e-06	4.013e-05	2.821e-05	0	0	0	0	0	0	5.527e-06	0	8.714e-05	6.573e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.21	0.89262	M	0.88	0.46028	T	-4.99	0.82221	D	0.939	0.94550	0.033	0.82916	D	0.378	0.73580	T	10	0.94898206	0.94230	D	0.311557	0.91201	D	0.765	0.92046	0.83	0.93978	0.924554785374	0.92379	0.9866312725375028	0.98656	2.17599700771	0.95535	0.794633746147	0.81147	T	0.354338	0.72150	T	0.149176	0.69191	D	0.213173	0.83826	D	0.971774458885193	0.69444	D	0.963204	0.86318	D	0.9834827	0.99364	0.98515	0.99926	0.9834827	0.99364	0.98515	0.99926	-12.462	0.87028	D	.	.	0.632	0.70190	P	.	.	5.245289	0.88060	29.5	0.99859717526463398	0.93820	0.97669	0.76290	D	AEFDBHCI	0.975341	0.99613	D	0.880637659365503	0.90779	10.56193	0.759775574007842	0.86884	9.035078	0.999999999996798	0.74766	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.36	4.36	0.51643	9.207000	0.94192	9.081000	0.78717	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.882000	0.42233	1.0:0.0:0.0:0.0	13.659	0.61829	589	0.68969	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2310.98	40	chr8	37965965	.	A	G	2310.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=949;ExcessHet=0.0000;FS=4.026;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.39;ReadPosRankSum=-2.060e-01;SOR=0.668	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1110	20	0	1	0
chr8	37966018	37966018	T	C	exonic	ADRB3	.	nonsynonymous SNV	ADRB3:NM_000025:exon1:c.A452G:p.K151R,	.	.	.	.	.	.	.	.	.	.	.	1037866	not_specified|not_provided|Obesity	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	0.924	P	0.823	P	0.000	D	1.000	D	0.38	N	-0.7	T	-0.554	T	0.285	T	0.704	3.556	18.13	4.36	1.956	6.007	13.659	0.514	0.0992408523405	.	.	0.0003	0	0	0	0	0.0006	0	0	0.0001164	18	154602	rs200133226	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0001	0.0001	0	0.0003	0.0025	0	0	0.0005	0.0002	0.0004	2.444e-05	0.0001	0.0001	0.0001	0.0001	0.0002	9.153e-05	7.708e-05	9.049e-05	7.013e-05	0	0	0.0001	0.0023	0	0	0	0.0002	0	0	0.211	0.19569	T	0.229	0.25210	T	0.924	0.51285	P	0.823	0.59197	P	0.000000	0.84330	D	0.000000	0.999992	0.58761	D	0.795	0.19620	N	-0.7	0.72785	T	-1.81	0.42575	N	0.167	0.17691	-0.5542	0.66626	T	0.285	0.65715	T	10	0.079853445	0.12895	T	0.099241	0.77075	D	0.514	0.79217	.	.	0.886555134172	0.88543	0.4563522655954418	0.45553	1.77228400373	0.91296	0.602806508541	0.53301	T	0.143419	0.47952	T	-0.0733123	0.40796	T	-0.058371	0.66446	T	0.360432922840118	0.27426	T	0.70223	0.31206	T	0.4981541	0.66987	0.52182186	0.72373	0.4981541	0.66988	0.52182186	0.72374	-2.136	0.03741	T	.	.	0.081	0.08224	B	.	.	3.473046	0.48458	22.6	0.99724996316051195	0.82336	0.95513	0.65020	D	AEFDBHCI	0.870388	0.79134	D	0.232455310624492	0.52776	3.449861	0.249317681600213	0.52612	3.434781	0.999999999922769	0.74766	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.36	4.36	0.51643	4.174000	0.58050	3.361000	0.37860	0.519000	0.23678	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:0.0:0.0:1.0	13.659	0.61829	589	0.68969	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1205.98	40	chr8	37966018	.	T	C	1205.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.000e+00;DP=914;ExcessHet=0.0000;FS=1.514;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.86;ReadPosRankSum=0.771;SOR=0.542	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1110	20	0	1	0
chr8	38138853	38138853	C	T	exonic	ASH2L	.	nonsynonymous SNV	ASH2L:NM_001261832:exon14:c.C1376T:p.P459L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.997	D	0.000	D	1.000	D	2.48	M	-0.51	T	0.574	D	0.746	D	0.783	5.553	35	5.77	2.729	7.380	19.986	0.747	0.0966602024245	.	.	4.942e-05	0	0	0	0	5.994e-05	0	0.0001	4.53e-05	7	154602	rs779895776	3.01e-05	3.078e-05	2.586e-05	3.438e-05	0.0002	2.282e-05	2.032e-05	2.285e-05	2.022e-05	0	4.472e-05	0	0	0	0.0002	3.148e-05	4.967e-05	3.478e-05	1.972e-05	1.97e-05	2.571e-05	1.346e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.58	0.75369	M	-0.51	0.82806	T	-6.9	0.93764	D	0.936	0.94432	0.574	0.91551	D	0.746	0.91330	D	10	0.87495184	0.86780	D	0.09666	0.76640	D	0.747	0.91285	0.562	0.68229	0.793944711092	0.79203	0.9373489816719375	0.93714	1.14742869639	0.79103	0.614924073219	0.55011	T	0.709047	0.91686	D	0.134638	0.67811	D	0.158276	0.80701	D	0.683737884787415	0.39959	D	0.976302	0.94316	D	0.76884884	0.81979	0.72353107	0.83672	0.76884884	0.81980	0.72353107	0.83673	-10.348	0.75969	D	0.4005949444299645	0.49245	0.624	0.70073	P	.;.;.;.	.;.;.;.	5.437502	0.90896	32	0.99881432576916318	0.95733	0.97822	0.77388	D	AEFGBCI	0.901549	0.84837	D	0.898371540815056	0.91678	11.00766	0.876517977920586	0.94465	12.78289	0.999999999999994	0.74766	0.75658	0.98901	0	0.724815	0.89359	0	0.724815	0.87919	0	0.656636	0.63459	0	.	.	5.77	5.77	0.91077	7.464000	0.79911	7.654000	0.63860	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.159000	0.20615	0.0:1.0:0.0:0.0	19.986	0.97352	130	0.94779	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2041.98	34	chr8	38138853	.	C	T	2041.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.926;DP=873;ExcessHet=0.0000;FS=0.584;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=0.499;SOR=0.766	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1317	20	0	1	0
chr8	38304635	38304635	T	C	exonic	NSD3	.	nonsynonymous SNV	NSD3:NM_023034:exon14:c.A2563G:p.S855G,	Leukemia, acute myeloid, Autosomal dominant	.	9	1510	3	0	0	3	0.000992392	.	.	736642	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.4	T	0.0	B	0.001	B	0.008	U	1.000	D	-0.2	N	-3.62	D	-0.298	T	0.542	D	0.139	2.240	13.45	4.47	1.072	2.981	8.257	0.241	.	.	0.00359425	0.0018	0	8.657e-05	0	0	0	0.0011	0.0129	0.0015847	245	154602	rs200585543	0.0008	0.0008	0.0005	0.0012	0.0134	0.0008	0.0008	0.0128	0.0125	0	0	0	0	0	0.0005	6.296e-06	0.0008	0.0134	0.0005	0.0005	0.0002	0.0009	0.0162	0.0004	0.0004	0.0133	0.0122	2.405e-05	0	0	0	0.0002	0	0	0	0	0.0162	0.29	0.25355	T	0.341	0.18449	T	0.0	0.02946	B	0.0	0.04355	B	0.008220	0.30959	U	0.221861	0.755912	0.29590	N	0.85	0.21244	L	-3.62	0.95077	D	0.48	0.03700	N	0.104	0.09490	-0.2985	0.75026	T	0.542	0.83122	D	10	0.0032746494	0.00056	T	.	.	.	0.241	0.54641	0.303	0.27164	0.196089822672	0.19227	0.2552825894766767	0.25442	0.396591023391	0.40765	0.289771229029	0.08889	T	0.017583	0.14320	T	-0.319857	0.06909	T	-0.220553	0.52685	T	0.0486169836871075	0.05254	T	0.589941	0.21965	T	0.095955335	0.22594	0.061597515	0.11920	0.095955335	0.22594	0.061597515	0.11919	-3.265	0.16713	T	.	.	0.059	0.01075	B	.;.;.	.;.;.	2.373463	0.30458	18.44	0.99051069392648317	0.51253	0.90107	0.51028	D	AEFDBI	0.165206	0.29168	N	-0.415147039715644	0.24938	1.350138	-0.195464251082535	0.31703	1.796648	0.997124040126172	0.35298	0.722319	0.85440	0	0.698795	0.70079	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.62	4.47	0.53770	2.992000	0.49106	3.507000	0.38815	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.1565:0.0:0.8435	8.257	0.30923	437	0.80299	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1281.98	34	chr8	38304635	.	T	C	1281.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.360;DP=790;ExcessHet=0.0000;FS=2.734;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=2.65;SOR=1.014	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1155	20	0	1	0
chr8	38745477	38745477	A	G	exonic	TACC1	.	nonsynonymous SNV	TACC1:NM_001352786:exon3:c.A10G:p.I4V,	.	.	443	1076	3	0	0	3	0.00139211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	.	.	1.000	N	.	.	3.15	T	-0.933	T	0.012	T	0.049	-1.072	0.170	1.1	0.768	1.404	4.463	0.065	0.000692982713423	.	.	0.0003	0	0	0	0	0	0	0.0005	2.59e-05	4	154602	rs767937820	0.0001	0.0001	6.479e-05	0.0002	0.0012	0.0001	0.0001	0.0010	0.0009	6.79e-05	0	0	0	0	0.0007	0	6.654e-05	0.0012	7.221e-05	7.218e-05	5.138e-05	9.398e-05	0.0019	3.968e-05	3.125e-05	0.0010	0.0007	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0.0019	0.805	0.03077	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	0.16	0.05217	N	0.067	0.03956	-0.9331	0.43680	T	0.012	0.04605	T	7	0.012533307	0.00269	T	6.93E-4	0.00418	T	0.065	0.18881	0.105	0.01753	0.166414681773	0.16258	.	.	.	.	.	.	.	.	.	.	-0.653411	0.00069	T	-0.80527	0.01774	T	0.0207147323720273	0.00771	T	0.310469	0.06031	T	.	.	.	.	.	.	.	.	-3.097	0.11262	T	.	.	0.163	0.36053	B	.	.	-0.370060	0.02327	0.249	0.67919804452192356	0.08500	0.03542	0.08738	N	AEBI	0.058234	0.10912	N	-0.933999692170504	0.10054	0.4786633	-1.05103751521474	0.08685	0.4282629	0.992537984183785	0.32874	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	1.1	1.1	0.19578	1.399000	0.34175	0.339000	0.17362	0.587000	0.30956	0.002000	0.15269	0.000000	0.08366	0.004000	0.06068	1.0:0.0:0.0:0.0	4.463	0.11093	715	0.56137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1603.98	33	chr8	38745477	.	A	G	1603.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.07;DP=783;ExcessHet=0.0000;FS=2.570;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.28;ReadPosRankSum=-1.312e+00;SOR=0.969	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1211	20	0	1	0
chr8	38969719	38969719	A	T	exonic	PLEKHA2	.	nonsynonymous SNV	PLEKHA2:NM_021623:exon12:c.A1214T:p.H405L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.09	B	0.036	B	.	.	1.000	D	.	.	3.56	T	-0.952	T	0.011	T	0.368	2.275	13.57	4.66	1.030	3.668	8.655	0.086	0.00418842162713	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs775831905	3.886e-06	3.42e-06	4.597e-06	3.154e-06	4.968e-06	1.14e-06	8.3e-07	1.46e-06	1.06e-06	0	0	0	0	0	0	4.968e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.657	0.06576	T	0.09	0.25173	B	0.036	0.22909	B	.	.	.	.	0.794888	0.81001	D	.	.	.	.	.	.	.	.	.	0.336	0.39962	-0.9521	0.40608	T	0.011	0.04181	T	8	0.12911242	0.24564	T	0.004188	0.10089	T	.	.	.	.	0.609343871639	0.60621	0.18583546924373032	0.18501	.	.	0.517262458801	0.41241	T	0.020917	0.16384	T	-0.0323723	0.47072	T	-0.284277	0.46364	T	0.420972496271133	0.29726	T	0.787321	0.42620	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.18206	B	.;.;.	.;.;.	2.626008	0.34140	19.54	0.96241851659937894	0.29154	0.92770	0.56503	D	AEFDBI	0.371295	0.45735	N	-0.122842966124433	0.36399	2.103426	0.0354812383467643	0.41375	2.484708	0.999986730022734	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.81	4.66	0.57857	2.974000	0.48964	9.332000	0.80140	0.756000	0.94297	0.990000	0.36992	1.000000	0.68203	0.988000	0.63387	0.8524:0.0:0.1476:0.0	8.655	0.33219	640	0.64132	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	942.98	36	chr8	38969719	.	A	T	942.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.547;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.82;ReadPosRankSum=0.085;SOR=0.633	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1194	20	0	1	0
chr8	38988000	38988000	G	C	exonic	HTRA4	.	nonsynonymous SNV	HTRA4:NM_153692:exon9:c.G1333C:p.D445H,	.	.	430	1081	11	0	0	11	0.00506213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.02	M	-1.9	D	0.741	D	0.807	D	0.935	3.397	17.47	6.07	2.885	8.132	19.431	0.751	0.258428463521	0.0005	0.00159744	0.0018	9.724e-05	0.0010	0	0.0002	0.0015	0.0045	0.0061	0.0015524	240	154602	rs139374339	0.0011	0.0011	0.0009	0.0013	0.0067	0.0011	0.0011	0.0063	0.0061	0.0001	0.0007	0	2.524e-05	0.0002	0.0033	0.0008	0.0011	0.0067	0.0009	0.0009	0.0008	0.0011	0.0075	0.0008	0.0008	0.0055	0.0049	0.0002	0	0.0022	0	0	0	0.0034	0.0009	0.0009	0.0075	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000021	0.55875	D	0.066400	1	0.81001	D	3.08	0.87267	M	-1.9	0.84628	D	-5.24	0.83967	D	0.638	0.65074	0.741	0.93682	D	0.807	0.93468	D	10	0.024195105	0.00657	T	0.258428	0.89407	D	0.751	0.91456	.	.	0.978025239274	0.97778	0.7825490449195445	0.78205	0.579290574343	0.53809	0.493719756603	0.37955	T	0.09733	0.40005	T	0.10995	0.65347	D	0.38791	0.91709	D	0.142907733418972	0.16523	T	0.586841	0.21439	T	0.8243261	0.85513	0.8029024	0.88452	0.8243261	0.85515	0.8029024	0.88453	-9.493	0.70815	D	.	.	0.361	0.57274	A	.	.	4.093954	0.60998	24.3	0.99404666347589465	0.62981	0.98821	0.87296	D	AEFBI	0.881359	0.80865	D	0.869660193267806	0.90197	10.29553	0.789693061423875	0.89066	9.825581	0.999999999999984	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.645665	0.59343	0	.	.	6.07	6.07	0.98675	8.340000	0.89951	8.662000	0.77976	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.239000	0.22975	0.0:0.0:1.0:0.0	19.431	0.94757	651	0.62880	PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	957.98	36	chr8	38988000	.	G	C	957.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.707;DP=766;ExcessHet=0.0000;FS=1.900;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=1.81;SOR=0.975	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,104,1246	20	0	1	0
chr8	39011688	39011688	G	A	exonic	ADAM9	.	nonsynonymous SNV	ADAM9:NM_003816:exon3:c.G226A:p.E76K,	Cone-rod dystrophy 9	.	3	1467	49	3	0	55	0.0184008	.	.	193527	not_specified|not_provided|Cone-rod_dystrophy_9	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013002,MedGen:C1423873,OMIM:612775,Orphanet:1872	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.97	T	0.084	B	0.097	B	0.003	N	0.633	N	0.28	N	3.24	T	-0.951	T	0.008	T	0.218	0.349	5.892	1.19	0.469	1.084	6.302	0.059	.	0.0041	0.00399361	0.0064	0.0008	0.0042	0.0001	0.0005	0.0055	0.0066	0.0206	0.0059249	916	154602	rs61753672	0.0058	0.0059	0.0053	0.0063	0.0204	0.0056	0.0056	0.0196	0.0193	0.0007	0.0046	0.0214	2.523e-05	0.0007	0.0134	0.0047	0.0079	0.0204	0.0049	0.0049	0.0046	0.0051	0.0190	0.0046	0.0044	0.0159	0.0147	0.0013	0	0.0056	0.0282	0.0002	0.0008	0.0136	0.0055	0.0085	0.0190	0.43	0.13479	T	0.283	0.21478	T	0.046	0.24799	B	0.042	0.30390	B	0.002571	0.36316	N	0.322851	0.701829	0.30683	N	0.69	0.16971	N	3.24	0.06845	T	-0.8	0.22078	N	0.298	0.33687	-0.9505	0.40885	T	0.008	0.02638	T	10	0.0056779087	0.00126	T	.	.	.	0.059	0.16972	.	.	0.335408717102	0.33150	0.5952498386516747	0.59454	0.445410381898	0.44433	0.383827090263	0.22798	T	0.00501	0.26742	T	-0.596119	0.00154	T	-0.614123	0.11652	T	0.00231834998494195	0.00024	T	0.826617	0.52285	T	0.05485932	0.10582	0.05220143	0.08554	0.06884481	0.15033	0.06662778	0.13673	-3.492	0.16320	T	0.1193214732773478	0.11103	0.129	0.27523	B	.;.;.	.;.;.	2.015665	0.25613	16.83	0.82309923148698827	0.14126	0.67078	0.33303	D	AEFGBI	0.067283	0.13219	N	-0.616600102492996	0.18444	0.9576911	-0.446834104372004	0.23638	1.290172	0.999875220121655	0.44625	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.73	1.19	0.20120	0.969000	0.28967	2.921000	0.35563	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.894000	0.43146	0.1356:0.3548:0.5096:0.0	6.302	0.20327	665	0.61472	Peptidase M12B, propeptide;Peptidase M12B, propeptide;Peptidase M12B, propeptide	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.04762	3313.11	172	chr8	39011688	.	G	A	3313.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.39;DP=979;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.26;ReadPosRankSum=-2.360e-01;SOR=0.676	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1215	19	0	2	0
chr8	39023298	39023298	G	A	exonic	ADAM9	.	nonsynonymous SNV	ADAM9:NM_003816:exon9:c.G887A:p.R296Q,	Cone-rod dystrophy 9	.	0	1487	34	1	0	36	0.0119601	.	.	700586	ADAM9-related_disorder|not_provided|Cone-rod_dystrophy_9	.|MedGen:C3661900|MONDO:MONDO:0013002,MedGen:C1423873,OMIM:612775,Orphanet:1872	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.39	T	0.19	B	0.104	B	0.000	D	1.000	D	0.79	N	-0.03	T	-0.949	T	0.156	T	0.363	2.628	14.75	4.94	1.468	5.303	14.455	0.077	.	0.0003	0.00299521	0.0016	9.614e-05	0	0	0	0.0002	0.0044	0.0108	0.0014359	222	154602	rs140082569	0.0008	0.0008	0.0005	0.0011	0.0106	0.0008	0.0008	0.0100	0.0098	8.963e-05	0.0001	0.0007	0	0	0.0062	0.0001	0.0009	0.0106	0.0004	0.0004	0.0003	0.0006	0.0075	0.0003	0.0003	0.0056	0.0049	9.653e-05	0	0.0001	0.0006	0.0004	0	0.0068	0.0002	0.0014	0.0075	0.215	0.19293	T	0.342	0.17910	T	0.19	0.29379	B	0.104	0.31021	B	0.000466	0.44119	D	0.222992	0.996547	0.43267	D	0.845	0.21182	L	-0.03	0.63077	T	-0.86	0.23372	N	0.269	0.30461	-0.9490	0.41143	T	0.156	0.48738	T	10	0.010584384	0.00235	T	.	.	.	0.077	0.22490	.	.	0.619369558668	0.61629	0.7875244783580344	0.78704	0.725681066863	0.62467	0.367673099041	0.20497	T	0.069037	0.33608	T	-0.361387	0.04053	T	-0.284065	0.46386	T	0.081637792289257	0.10196	T	0.892211	0.62852	D	0.15890746	0.35725	0.12609394	0.30372	0.15890746	0.35725	0.12609394	0.30371	-7.237	0.55746	T	0.21740283894345605	0.29260	0.099	0.16800	B	.	.	3.887764	0.56547	23.7	0.99678237190756069	0.79043	0.97884	0.77855	D	AEFBI	0.683345	0.64606	D	-0.0573578137192683	0.39275	2.313407	0.127578103551964	0.45966	2.850455	0.999999959626565	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.82	4.94	0.64645	4.607000	0.60840	3.905000	0.40374	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0698:0.0:0.9302:0.0	14.455	0.66986	661	0.61838	Peptidase M12B, ADAM/reprolysin|Peptidase M12B, ADAM/reprolysin|Reprolysin domain, adamalysin-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	602.98	41	chr8	39023298	.	G	A	602.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.767;DP=756;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.96;ReadPosRankSum=0.203;SOR=0.602	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1156	20	0	1	0
chr8	39788742	39788742	T	A	splicing	ADAM2	NM_001278114:exon8:c.571-2A>T;NM_001278113:exon7:c.514-2A>T;NM_001464:exon8:c.571-2A>T	.	.	.	.	541	946	28	7	0	42	0.0217166	0.9999	0.844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.641	11.45	4.59	1.830	4.507	10.649	.	.	0.0066	0.00579073	0.0071	0.0022	0.0050	0	0.0008	0.0080	0.0118	0.0142	0.0063324	979	154602	rs75268423	0.0072	0.0073	0.0071	0.0074	0.0212	0.0071	0.0070	0.0180	0.0168	0.0025	0.0050	0.0131	5.734e-05	0.0008	0.0212	0.0073	0.0088	0.0128	0.0055	0.0055	0.0059	0.0050	0.0103	0.0052	0.0050	0.0081	0.0072	0.0018	0	0.0060	0.0133	0	0.0008	0.0238	0.0079	0.0067	0.0103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.127234	0.31946	T	0.0567852	0.74031	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.039753	0.59798	24.1	0.98318653159895286	0.40222	0.92711	0.56359	D	AEFBI	.	.	.	0.86118110704879	0.89735	10.09558	0.643665792625693	0.78139	6.816689	0.00393367120657241	0.10346	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.058706	0.01089	0	0.715136	0.43286	4.59	4.59	0.56297	3.176000	0.50564	7.659000	0.64126	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.637000	0.32341	0.0:0.0:0.0:1.0	10.649	0.44831	872	0.31118	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	478.98	33	chr8	39788742	.	T	A	478.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.120e-01;DP=743;ExcessHet=0.0000;FS=2.387;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.48;ReadPosRankSum=0.452;SOR=0.398	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1154	20	0	1	0
chr8	39918109	39918109	C	A	exonic	IDO1	.	nonsynonymous SNV	IDO1:NM_002164:exon3:c.C205A:p.H69N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	B	0.033	B	0.921	N	1.000	N	0.955	L	1.04	T	-1.009	T	0.076	T	0.032	1.145	9.665	2.82	0.751	0.220	7.491	0.020	0.0116057051404	.	.	8.281e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs763006663	4.789e-06	4.788e-06	1.361e-06	8.252e-06	6.957e-05	1.99e-06	1.28e-06	2.995e-05	2.038e-05	0	0	0	0	0	0	8.994e-07	0	6.957e-05	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.452	0.13131	T	0.614	0.19073	T	0.025	0.19245	B	0.033	0.22329	B	0.920817	0.08488	N	0.958528	1	0.08975	N	0.69	0.16971	N	1.04	0.40218	T	-1.47	0.47008	N	0.272	0.30800	-1.0091	0.27198	T	0.076	0.30460	T	9	0.13601133	0.25879	T	0.011606	0.29407	T	0.020	0.03691	0.448	0.50793	0.173771789658	0.16945	0.09552612691611206	0.09484	0.0482480031121	0.05275	0.27166184783	0.06359	T	0.022814	0.51171	T	-0.489342	0.00655	T	-0.738028	0.03975	T	0.0340651068316614	0.02648	T	0.555844	0.19458	T	0.26873446	0.49945	0.08870297	0.20700	0.26873446	0.49945	0.08870297	0.20699	-3.106	0.11365	T	.	.	0.065	0.03231	B	.;.;.;.	.;.;.;.	1.395071	0.18080	13.54	0.76137086444215341	0.11347	0.08456	0.14383	N	AEFDHCI	0.112841	0.22288	N	-0.963261578018857	0.09397	0.4445764	-0.936354518599568	0.11240	0.5714483	0.00790191170281683	0.11569	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	5.65	2.82	0.32061	0.268000	0.18336	2.105000	0.30626	-0.368000	0.05462	0.000000	0.06391	0.017000	0.20586	0.338000	0.25386	0.0975:0.4341:0.4684:0.0	7.491	0.26629	914	0.21048	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1557.98	33	chr8	39918109	.	C	A	1557.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.225e+00;DP=833;ExcessHet=0.0000;FS=0.709;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.79;ReadPosRankSum=0.772;SOR=0.842	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1257	20	0	1	0
chr8	39949226	39949226	A	G	exonic	IDO2	.	nonsynonymous SNV	IDO2:NM_194294:exon2:c.A100G:p.I34V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.734	P	0.203	B	0.001	D	0.989	N	0.555	N	1.29	T	-1.057	T	0.051	T	0.376	0.917	8.733	4.92	2.062	2.584	10.900	0.136	0.00522952842637	.	.	.	.	.	.	.	.	.	.	.	.	.	rs964439517	6.197e-06	6.156e-06	8.21e-06	4.159e-06	2.997e-05	2.92e-06	2.11e-06	3.94e-06	1.48e-06	2.997e-05	0	0	0	0	0	5.42e-06	0	2.374e-05	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.25	0.17126	T	0.455	0.12776	T	.	.	.	.	.	.	0.000654	0.42656	D	0.153885	0.98861	0.24391	N	.	.	.	1.29	0.35775	T	-0.64	0.20145	N	0.358	0.39962	-1.0574	0.12414	T	0.051	0.21533	T	9	0.31012726	0.48493	T	0.00523	0.13341	T	0.136	0.36778	0.706	0.84236	0.126345400529	0.12197	0.12616596250318077	0.12542	0.0161916664348	0.01549	0.458727389574	0.33135	T	0.004533	0.03938	T	-0.187128	0.22680	T	-0.401287	0.33233	T	0.319706112146378	0.25810	T	0.785321	0.42297	T	0.05873921	0.11853	0.057115026	0.10324	0.05873921	0.11853	0.057115026	0.10324	-4.985	0.36677	T	.	.	0.098	0.23360	B	.;.	.;.	1.287255	0.16875	12.82	0.9664264752789119	0.30560	0.89033	0.49261	D	AEFGBI	0.467120	0.51448	N	-0.0113721017053059	0.41340	2.47101	0.0764070875058317	0.43364	2.63976	0.999843505843676	0.43971	0.615755	0.39536	0	0.618376	0.53248	0	0.468601	0.07175	0	0.530356	0.10902	0	.	.	4.92	4.92	0.64147	3.847000	0.55604	4.439000	0.43379	0.746000	0.86710	1.000000	0.71638	1.000000	0.68203	0.718000	0.34707	1.0:0.0:0.0:0.0	10.900	0.46252	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1266.98	35	chr8	39949226	.	A	G	1266.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.360e-01;DP=798;ExcessHet=0.0000;FS=0.729;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=0.083;SOR=0.581	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1250	20	0	1	0
chr8	39963621	39963621	A	G	exonic	IDO2	.	nonsynonymous SNV	IDO2:NM_194294:exon3:c.A152G:p.D51G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	B	0.004	B	0.090	N	0.961	N	1.665	L	0.84	T	-1.004	T	0.111	T	0.345	1.982	12.58	4.51	0.984	1.389	8.423	0.081	0.00706836418652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.238	0.24549	T	.	.	.	.	.	.	0.090174	0.20389	N	0.555104	0.961293	0.26113	N	.	.	.	0.84	0.47477	T	-4.3	0.76496	D	0.246	0.27792	-1.0045	0.28607	T	0.111	0.39794	T	9	0.22104406	0.38819	T	0.007068	0.18731	T	0.081	0.23632	0.545	0.65873	0.527709697666	0.52419	0.24483781067763596	0.24397	0.0119131882015	0.01126	0.323112666607	0.13892	T	0.04384	0.26629	T	-0.132191	0.31142	T	-0.427659	0.30200	T	0.487845450639725	0.32185	T	0.687331	0.29630	T	0.30245233	0.53124	0.32984304	0.58859	0.30245233	0.53124	0.32984304	0.58859	-4.95	0.36292	T	.	.	0.081	0.10111	B	.;.	.;.	2.274105	0.29073	18.00	0.97543554842314006	0.34528	0.55831	0.29963	D	AEFGBHCIJ	0.166507	0.29309	N	-0.219843592222308	0.32320	1.821466	-0.0760077972745151	0.36385	2.116762	0.999889765854876	0.44867	0.573017	0.32728	1	0.607795	0.50457	0	0.491513	0.07944	0	0.648885	0.59868	0	.	.	5.66	4.51	0.54589	1.779000	0.38254	5.302000	0.48239	0.756000	0.94297	0.777000	0.29437	1.000000	0.68203	0.952000	0.50033	0.9115:0.0:0.0885:0.0	8.423	0.31876	921	0.19240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	126.41	33	chr8	39963621	.	A	G	126.41	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.384e+00;DP=2478;ExcessHet=0.1072;FS=92.336;InbreedingCoeff=-0.0596;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.35;ReadPosRankSum=1.37;SOR=10.487	GT:AD:DP:GQ:PL	0/0:149,29:178:38:0,38,2813	19	0	2	0
chr8	41932602	41932602	T	C	exonic	KAT6A	.	nonsynonymous SNV	KAT6A:NM_006766:exon17:c.A5618G:p.Q1873R,	Mental retardation, autosomal dominant 32, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.682	P	0.188	B	0.001	D	1.000	D	0.975	L	-0.47	T	-0.584	T	0.231	T	0.704	1.392	10.59	5.67	2.148	5.965	15.913	0.344	0.0441549640128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.682	0.41464	P	0.188	0.36237	B	0.000663	0.42516	D	0.164111	0.999925	0.51308	D	1.545	0.39105	L	-0.47	0.70133	T	-3.17	0.64363	D	0.501	0.57433	-0.5838	0.65467	T	0.231	0.59645	T	10	0.36941233	0.53357	T	0.044155	0.61348	D	0.344	0.66582	0.208	0.12497	0.720395859475	0.71793	0.6306809889464589	0.63002	0.201892751584	0.22604	0.778806686401	0.78748	T	0.580512	0.86256	D	0.145277	0.68825	D	-0.0290958	0.68428	D	0.807511568069458	0.46873	D	0.934407	0.75457	D	0.5424957	0.69536	0.65221953	0.79647	0.5424957	0.69537	0.65221953	0.79648	-6.078	0.46927	T	.	.	0.493	0.75504	A	.;.;.	.;.;.	3.758230	0.53913	23.4	0.94272073733103268	0.24560	0.96467	0.69283	D	AEFBCI	0.743345	0.68668	D	0.287929583673101	0.55535	3.717644	0.412865173661773	0.62366	4.450762	0.999999998856202	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.67	5.67	0.87673	5.136000	0.64623	6.214000	0.55048	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	15.913	0.79274	495	0.76383	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1903.98	33	chr8	41932602	.	T	C	1903.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.382e+00;DP=868;ExcessHet=0.0000;FS=2.825;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.53;ReadPosRankSum=0.555;SOR=0.768	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1372	20	0	1	0
chr8	42178946	42178946	C	G	exonic	PLAT	.	nonsynonymous SNV	PLAT:NM_001319189:exon11:c.G1214C:p.G405A	Hyperfibrinolysis, familial, due to increased release of PLAT;Thrombophilia, familial, due to decreased release of PLAT	.	1	1520	1	0	0	1	0.000328839	.	.	796175	Thrombocytopenia|Abnormal_bleeding|not_provided	Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034|Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140|MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.22	T	1.0	D	1.0	D	0.000	D	1.000	D	1.575	L	-2.72	D	0.590	D	0.806	D	0.961	2.792	15.30	5.5	2.735	7.316	19.766	0.783	0.0866045491604	0.0005	0.000599042	0.0008	0.0003	0.0006	0	0	0.0010	0	0.0014	0.0008021	124	154602	rs61755432	0.0014	0.0014	0.0014	0.0014	0.0016	0.0013	0.0013	0.0016	0.0015	0.0001	0.0004	0.0001	0	0.0001	0.0005	0.0016	0.0013	0.0011	0.0011	0.0011	0.0011	0.0011	0.0017	0.0009	0.0009	0.0014	0.0013	0.0002	0.0011	0.0017	0.0003	0	0	0	0.0017	0.0024	0.0012	0.183	0.44358	T	0.182	0.30241	T	0.999	0.90584	D	0.948	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.645	0.77386	M	-2.72	0.90622	D	-4.08	0.74742	D	0.906	0.96758	0.590	0.91768	D	0.806	0.93446	D	10	0.29897818	0.47452	T	0.086605	0.74771	D	0.783	0.92787	.	.	0.968457319957	0.96811	0.912930472553323	0.91267	0.734712489315	0.62915	0.687568187714	0.65356	T	0.890346	0.97768	D	0.133038	0.67656	D	0.388245	0.91721	D	0.0463386946700717	0.04846	T	0.949105	0.83775	D	0.67472124	0.76686	0.43188176	0.66791	0.67472124	0.76687	0.43188176	0.66791	-10.592	0.77374	D	.	.	0.367	0.63109	A	.;.;.;.;.;.	.;.;.;.;.;.	4.860892	0.79544	27.1	0.98965677503709559	0.49423	0.98983	0.89528	D	AEFDBI	0.915366	0.88006	D	0.513964973978383	0.67914	5.145848	0.459050374464789	0.65302	4.806426	1.0	0.98316	0.634777	0.41761	0	0.519925	0.08708	0	0.658983	0.55881	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	7.373000	0.78878	7.592000	0.61280	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.806000	0.37994	0.0:1.0:0.0:0.0	19.766	0.96341	400	0.82730	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	693.98	39	chr8	42178946	.	C	G	693.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=743;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.09;ReadPosRankSum=0.598;SOR=0.655	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1152	20	0	1	0
chr8	42182852	42182852	G	T	exonic	PLAT	.	nonsynonymous SNV	PLAT:NM_001319189:exon6:c.C403A:p.R135S	Hyperfibrinolysis, familial, due to increased release of PLAT;Thrombophilia, familial, due to decreased release of PLAT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.986	D	0.872	P	0.000	D	1.000	D	3.41	M	-0.4	T	0.256	D	0.529	D	0.711	3.555	18.13	4.63	2.603	3.890	13.713	0.603	0.149882611604	.	.	1.654e-05	0	0	0	0	1.506e-05	0	6.087e-05	1.29e-05	2	154602	rs183443805	7.528e-06	7.525e-06	4.086e-06	1.1e-05	0.0007	4.04e-06	2.95e-06	0.0002	0.0001	0	0	0	0	0	0.0007	2.699e-06	0	4.64e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.79402	D	0.512	0.61523	P	0.564	0.61918	P	0.000000	0.84330	D	0.053255	0.999994	0.58761	D	3.755	0.95055	H	-0.4	0.69287	T	-3.8	0.86222	D	0.732	0.79214	0.256	0.86836	D	0.529	0.82482	D	10	0.9574263	0.95116	D	0.149883	0.83164	D	0.603	0.84345	0.839	0.94541	0.839843563635	0.83831	0.8095402449255598	0.80909	0.696995008883	0.60873	0.317899942398	0.13103	T	0.310079	0.68206	T	0.0406081	0.57126	T	0.0241541	0.71900	D	0.980591595172882	0.73444	D	0.871813	0.63576	D	0.8468909	0.87107	0.62428683	0.78103	0.8468909	0.87108	0.62428683	0.78104	-10.779	0.79234	D	.	.	0.506	0.75127	A	.;.;.;.;.;.	.;.;.;.;.;.	4.135763	0.61922	24.4	0.99750548550473339	0.84228	0.99305	0.94239	D	ALL	0.678513	0.64285	D	0.544581462087872	0.69751	5.401882	0.489732466220483	0.67309	5.066665	0.999999999999779	0.74766	0.706548	0.73137	0	0.518115	0.08659	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.51	4.63	0.57175	3.893000	0.55955	8.617000	0.77794	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.513000	0.29313	0.075:0.0:0.925:0.0	13.713	0.62158	396	0.82953	Kringle|Kringle|Kringle|Kringle;Kringle|Kringle|Kringle|Kringle;.;Kringle|Kringle|Kringle|Kringle;Kringle|Kringle|Kringle|Kringle;Kringle|Kringle|Kringle|Kringle	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1620.98	33	chr8	42182852	.	G	T	1620.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.07;DP=848;ExcessHet=0.0000;FS=5.382;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=-1.530e-01;SOR=1.144	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1170	20	0	1	0
chr8	42330971	42330971	G	T	exonic	IKBKB	.	nonsynonymous SNV	IKBKB:NM_001190720:exon21:c.G2071T:p.A691S	Immunodeficiency 15, Autosomal recessive	.	428	1078	16	0	0	16	0.00736648	.	.	751168	Severe_combined_immunodeficiency_due_to_IKK2_deficiency	MONDO:MONDO:0014267,MedGen:C4747743,OMIM:615592,Orphanet:397787	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.073	B	0.025	B	0.001	N	1.000	N	1.39	L	2.88	T	-0.855	T	0.228	T	0.325	0.993	9.055	3.2	1.215	1.792	3.497	0.120	0.0624284222058	.	0.000399361	0.0003	0	0	0.0001	0	0.0002	0.0011	0.0012	0.0002264	35	154602	rs202054179	0.0001	0.0002	0.0001	0.0002	0.0016	0.0001	0.0001	0.0014	0.0013	0	0	0	0	0	0.0016	3.777e-05	0.0004	0.0016	0.0001	0.0001	0.0002	9.397e-05	0.0014	8.658e-05	7.251e-05	0.0007	0.0005	0	0	0	0	0.0002	0	0.0102	0.0001	0	0.0014	0.098	0.36113	T	0.0	0.92824	D	0.018	0.24078	B	0.011	0.20508	B	0.001358	0.39310	N	0.244803	1	0.81001	D	1.5	0.37844	L	-0.83	0.75108	T	-0.01	0.07155	N	0.195	0.31590	-0.8552	0.51606	T	0.228	0.59334	T	10	0.018627256	0.00407	T	0.062428	0.68648	D	0.120	0.33359	.	.	0.702571303142	0.69998	0.200387555468694	0.19955	0.387000595785	0.39991	0.33059990406	0.15026	T	0.095715	0.39677	T	-0.330809	0.06051	T	-0.283339	0.46461	T	0.0395923167553607	0.03617	T	0.542746	0.18485	T	0.027755879	0.02013	0.031865843	0.01838	0.023430241	0.01083	0.03037863	0.01486	-2.821	0.08828	T	.	.	0.067	0.02458	B	.;.;.;.	.;.;.;.	2.206480	0.28145	17.70	0.96115818032288158	0.28760	0.86025	0.45231	D	AEFDGBI	0.237088	0.35943	N	-0.319110714455961	0.28422	1.567561	-0.224999510068413	0.30643	1.727116	0.999979132648623	0.50053	0.732398	0.92422	0	0.601644	0.50151	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.31	3.2	0.35826	1.400000	0.34186	3.736000	0.39634	-0.161000	0.11593	0.996000	0.39380	1.000000	0.68203	0.037000	0.13953	0.1779:0.2722:0.5499:0.0	3.497	0.07220	666	0.61362	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1531.98	37	chr8	42330971	.	G	T	1531.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.340e-01;DP=857;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=-9.100e-02;SOR=0.668	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,103,1442	20	0	1	0
chr8	42463062	42463062	C	A	exonic	SLC20A2	.	nonsynonymous SNV	SLC20A2:NM_001257180:exon4:c.G459T:p.L153F	Basal ganglia calcification, idiopathic, 1, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.000	D	1.000	D	1.855	L	-2.96	D	0.514	D	0.796	D	0.889	3.664	18.62	2.92	0.321	0.374	6.802	0.757	0.368044975937	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1334799490	2.07e-06	4.104e-06	2.746e-06	1.387e-06	0.0002	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.808e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.41	0.69639	M	-2.96	0.91956	D	-3.54	0.68651	D	0.811	0.85343	0.514	0.90737	D	0.796	0.93082	D	10	0.8844991	0.87772	D	0.368045	0.92677	D	0.757	0.91710	0.688	0.82558	0.709946821838	0.70741	0.8641147581064089	0.86375	1.64641629461	0.89472	0.733646273613	0.72039	T	0.787172	0.94435	D	0.381854	0.88827	D	0.31073	0.88686	D	0.959094285964966	0.65443	D	0.931507	0.74506	D	0.6127867	0.73377	0.56094086	0.74596	0.6127867	0.73378	0.56094086	0.74597	-7.108	0.54818	T	0.5709004921194298	0.63809	0.547	0.66889	A	.;.;.	.;.;.	3.837961	0.55523	23.6	0.99891145262850212	0.96513	0.81952	0.41257	D	AEFBI	0.148567	0.27249	N	0.374312138011704	0.60032	4.188064	0.320000322000929	0.56717	3.835392	0.880181847434527	0.25602	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.78	2.92	0.32998	0.400000	0.20657	1.508000	0.27004	0.594000	0.32500	0.994000	0.38300	1.000000	0.68203	0.994000	0.71098	0.1429:0.702:0.0:0.1551	6.802	0.22938	740	0.53092	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	453.98	55	chr8	42463062	.	C	A	453.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.596;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.25;ReadPosRankSum=-1.118e+00;SOR=0.566	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1031	20	0	1	0
chr8	42865438	42865438	C	T	exonic	RNF170	.	nonsynonymous SNV	RNF170:NM_001160223:exon5:c.G374A:p.S125N	Ataxia, sensory, 1, autosomal dominant, Autosomal dominant	.	3	1475	41	3	0	47	0.0156823	.	.	512913	not_provided|not_specified|Autosomal_dominant_sensory_ataxia_1	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012166,MedGen:C1837015,OMIM:608984	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.41	T	0.068	B	0.084	B	0.000	D	1.000	D	1.09	L	-2.09	D	-0.459	T	0.378	T	0.017	1.718	11.70	5.4	2.535	1.811	9.795	0.320	0.0218653605891	0.0032	0.00259585	0.0047	0.0004	0.0029	0	0.0024	0.0051	0.0089	0.0100	0.0043596	674	154602	rs144435181	0.0038	0.0039	0.0036	0.0041	0.0146	0.0038	0.0037	0.0121	0.0111	0.0005	0.0034	0.0144	0	0.0019	0.0146	0.0033	0.0053	0.0098	0.0037	0.0037	0.0034	0.0039	0.0100	0.0034	0.0033	0.0077	0.0069	0.0005	0	0.0086	0.0135	0	0.0029	0.0068	0.0039	0.0071	0.0100	0.408	0.10212	T	0.556	0.09725	T	0.068	0.23728	B	0.084	0.29270	B	0.000021	0.62929	D	0.210170	0.853382	0.81001	D	0.905	0.23240	L	-2.09	0.86077	D	0.17	0.05917	N	0.112	0.13055	-0.4586	0.70115	T	0.378	0.73550	T	10	0.0070908964	0.00161	T	0.021865	0.44695	T	0.320	0.64215	.	.	0.171220215726	0.16700	0.3583455209283506	0.35748	0.32656759674	0.34803	0.572874188423	0.49083	T	0.140864	0.47562	T	-0.468022	0.00875	T	-0.437096	0.29135	T	0.00973829499160102	0.00128	T	0.89861	0.64536	D	0.0778557	0.17695	0.10005769	0.23911	0.09718821	0.22905	0.0956821	0.22702	-7.756	0.59396	D	0.10193980457781364	0.07691	0.172	0.37764	B	.;.;.;.	.;.;.;.	2.904102	0.38503	20.7	0.93167249474562985	0.22821	0.81443	0.40845	D	AEFBI	0.170475	0.29738	N	-0.0911891641231564	0.37778	2.20285	0.101242349287037	0.44613	2.739609	0.00148805964611439	0.08576	0.732398	0.92422	0	0.633656	0.55848	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.4	5.4	0.77957	1.834000	0.38811	5.888000	0.50725	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.8469:0.0:0.1531	9.795	0.39898	288	0.88579	.;Zinc finger, C3HC4 RING-type|Zinc finger, RING-type|Zinc finger, RING-type;Zinc finger, C3HC4 RING-type|Zinc finger, RING-type|Zinc finger, RING-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	922.98	33	chr8	42865438	.	C	T	922.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.720;DP=749;ExcessHet=0.0000;FS=1.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=0.212;SOR=0.919	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1132	20	0	1	0
chr8	47599051	47599051	G	A	exonic	SPIDR	.	nonsynonymous SNV	SPIDR:NM_001352945:exon6:c.G673A:p.D225N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.989	D	0.000	D	1.000	D	2.045	M	.	.	-0.434	T	0.353	T	0.182	4.366	23.0	5.31	2.649	5.355	16.247	0.135	0.00696829886773	.	.	1.776e-05	0	0	0	0	3.185e-05	0	0	1.29e-05	2	154602	rs765994774	4.108e-06	4.104e-06	2.724e-06	5.505e-06	5.398e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.398e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.989	0.78396	D	0.000175	0.48594	D	0.132072	0.994761	0.42407	D	2.215	0.62545	M	.	.	.	-2.93	0.61284	D	0.452	0.57946	-0.4345	0.70915	T	0.353	0.71658	T	9	0.32641536	0.49938	T	0.006968	0.18458	T	0.135	0.36572	0.217	0.13788	0.0884992946249	0.08302	0.35140128400574494	0.35054	0.227127933774	0.25266	.	.	.	0.213575	0.57493	T	-0.0665222	0.41882	T	-0.317845	0.42810	T	0.846289455890656	0.49848	D	0.89491	0.63503	D	0.24655692	0.47626	0.24587935	0.50085	0.24655692	0.47626	0.24587935	0.50084	-8.332	0.63311	D	.	.	0.248	0.49596	B	.;.;.	.;.;.	4.015690	0.59269	24.1	0.99899730385149188	0.97199	0.94641	0.61832	D	AEFDGBI	0.560032	0.56860	D	0.335592753684094	0.57983	3.968163	0.373056364541083	0.59908	4.17291	0.99999999878322	0.74766	0.736574	0.97449	0	0.698795	0.70079	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	5.652000	0.67632	9.750000	0.81468	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	0.0:0.0:1.0:0.0	16.247	0.82272	637	0.64373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1467.98	33	chr8	47599051	.	G	A	1467.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=810;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=-1.531e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1115	20	0	1	0
chr8	47817561	47817561	C	T	exonic	PRKDC	.	nonsynonymous SNV	PRKDC:NM_001081640:exon68:c.G9446A:p.G3149D	Immunodeficiency 26, with or without neurologic abnormalities, Autosomal recessive	.	3	1451	65	3	0	71	0.0238816	.	.	457879	Malignant_tumor_of_breast|Severe_combined_immunodeficiency_due_to_DNA-PKcs_deficiency|not_specified	MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0014423,MedGen:C4014833,OMIM:615966,Orphanet:317425|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.6	T	0.029	B	0.094	B	0.001	D	1.000	D	2.175	M	-0.4	T	-0.644	T	0.302	T	0.339	1.468	10.85	5.69	2.670	2.106	19.801	0.136	.	0.0036	0.00838658	0.0088	0.0056	0.0052	0	0	0.0055	0.0087	0.0272	0.0044631	690	154602	rs8178208	0.0037	0.0038	0.0031	0.0044	0.0248	0.0037	0.0036	0.0239	0.0235	0.0043	0.0030	0.0059	0.0001	5.729e-05	0.0210	0.0022	0.0053	0.0248	0.0039	0.0039	0.0037	0.0040	0.0251	0.0036	0.0035	0.0215	0.0201	0.0044	0	0.0026	0.0081	0.0002	9.446e-05	0.0136	0.0029	0.0066	0.0251	.	.	.	0.183	0.29153	T	0.029	0.19866	B	0.094	0.30180	B	0.000949	0.40932	D	0.217402	0.999991	0.58761	D	1.76	0.45711	L	.	.	.	.	.	.	0.169	0.17966	-0.6439	0.62979	T	0.302	0.67279	T	10	0.0056990087	0.00127	T	0.009362	0.24553	T	0.136	0.36778	.	.	0.474515700568	0.47080	0.34185097520819946	0.34098	0.257240741173	0.28296	0.47807687521	0.35791	T	0.077021	0.35556	T	-0.374624	0.03366	T	-0.293978	0.45356	T	0.012189863090418	0.00196	T	0.777822	0.41150	T	0.27504557	0.50569	0.21136695	0.45563	0.2726713	0.50336	0.29716197	0.55748	-3.016	0.12129	T	.	.	0.131	0.28319	B	.;.	.;.	2.214422	0.28255	17.74	0.9353510979718791	0.23359	0.85155	0.44264	D	AEFDBHCI	0.523992	0.54736	D	-0.08396049542195	0.38095	2.226033	0.0505750619888519	0.42099	2.540583	0.999999999834419	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.69	5.69	0.88346	2.351000	0.43727	1.405000	0.26230	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.861000	0.40843	0.0:1.0:0.0:0.0	19.801	0.96506	612	0.66786	PIK-related kinase, FAT|PIK-related kinase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2566.11	34	chr8	47817561	.	C	T	2566.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.968;DP=839;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.26;ReadPosRankSum=0.302;SOR=0.715	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	19	0	2	0
chr8	47860965	47860965	T	C	exonic	PRKDC	.	nonsynonymous SNV	PRKDC:NM_001081640:exon45:c.A5992G:p.M1998V	Immunodeficiency 26, with or without neurologic abnormalities, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1923368	Severe_combined_immunodeficiency_due_to_DNA-PKcs_deficiency	MONDO:MONDO:0014423,MedGen:C4014833,OMIM:615966,Orphanet:317425	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.044	B	0.046	B	0.000	D	0.550	D	1.6	L	1.68	T	-1.055	T	0.048	T	0.472	-0.105	3.486	2.27	0.145	0.593	4.137	0.086	0.00317057245081	8.5e-05	.	1.342e-05	0	0	0	0	2.537e-05	0	0	6.5e-06	1	154602	rs373881409	1.387e-05	1.368e-05	1.654e-05	1.116e-05	0.0002	9.06e-06	7.36e-06	2.397e-05	1.264e-05	9.046e-05	0	0	2.538e-05	0	0.0002	1.364e-05	0	0	2.629e-05	2.627e-05	3.854e-05	1.345e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	.	.	.	0.028	0.54934	D	0.044	0.21686	B	0.046	0.24676	B	0.000007	0.62929	D	0.112377	0.549807	0.32123	D	2.01	0.54746	M	.	.	.	.	.	.	0.406	0.44666	-1.0554	0.12934	T	0.048	0.20592	T	10	0.18068409	0.33264	T	0.003171	0.06936	T	0.086	0.25016	.	.	0.695860412572	0.69323	0.28701011644979535	0.28614	0.174930252921	0.19695	0.317078024149	0.12978	T	0.075662	0.35230	T	-0.131712	0.31220	T	-0.247289	0.50084	T	0.0309156819883965	0.02132	T	0.844016	0.53348	T	0.19021335	0.40596	0.15405782	0.36174	0.19021335	0.40596	0.15405782	0.36173	-1.96	0.03147	T	0.18954296081561867	0.24798	0.077	0.06250	B	.;.	.;.	1.388292	0.18007	13.49	0.61791021834116455	0.06798	0.85626	0.44779	D	AEFBI	0.174068	0.30117	N	-0.359796612357241	0.26914	1.472603	-0.25962286717608	0.29442	1.649482	0.776893094259519	0.23767	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	6.02	2.27	0.27501	0.621000	0.24112	0.080000	0.14378	0.665000	0.62972	0.927000	0.32177	0.372000	0.24573	0.787000	0.37188	0.1111:0.0677:0.2869:0.5344	4.137	0.09642	568	0.70638	NUC194|NUC194;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	430.98	33	chr8	47860965	.	T	C	430.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.490e-01;DP=680;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=1.37;SOR=0.744	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1132	20	0	1	0
chr8	47912529	47912529	T	C	exonic	PRKDC	.	nonsynonymous SNV	PRKDC:NM_001081640:exon25:c.A2815G:p.M939V	Immunodeficiency 26, with or without neurologic abnormalities, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	3377192	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.25	T	0.0	B	0.002	B	0.001	N	0.999	N	.	.	4.45	T	-1.000	T	0.139	T	0.261	0.959	8.914	3.61	0.525	0.877	8.857	0.018	0.00738489448078	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1416883354	1.438e-05	1.505e-05	1.363e-05	1.514e-05	0.0003	9.24e-06	7.84e-06	6.094e-05	2.522e-05	0	0	0	5.052e-05	0	0.0003	1.53e-05	0	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.392	0.10766	T	0.929	0.02795	T	0.0	0.02946	B	0.001	0.06944	B	0.000892	0.41231	N	0.260017	0.999286	0.21411	N	.	.	.	-0.09	0.64086	T	-0.54	0.16598	N	0.267	0.30233	-1.0000	0.29917	T	0.139	0.45659	T	9	0.09928271	0.18007	T	0.007385	0.19576	T	0.018	0.03083	0.301	0.26843	0.586411055958	0.58314	0.19461950259959948	0.19379	0.166489251295	0.18785	0.32978951931	0.14902	T	0.088447	0.38161	T	-0.1097	0.34817	T	-0.395353	0.33925	T	0.0665304884314537	0.08155	T	0.80242	0.45664	T	0.12614898	0.29554	0.22231704	0.47072	0.12614898	0.29554	0.22231704	0.47071	-0.442	0.00549	T	0.1032602123501858	0.07942	0.073	0.04599	B	.;.	.;.	1.097470	0.14815	11.35	0.86678517128698784	0.16698	0.62678	0.31854	D	AEFBI	0.083885	0.16997	N	-0.386099123139517	0.25963	1.413414	-0.268695095334449	0.29136	1.629961	0.0082917795310281	0.11648	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.94	3.61	0.40494	0.877000	0.27756	1.955000	0.29907	0.665000	0.62972	0.538000	0.27251	0.993000	0.31925	0.981000	0.58702	0.0:0.2732:0.0:0.7268	8.857	0.34392	542	0.72843	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1386.98	33	chr8	47912529	.	T	C	1386.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.619;DP=810;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=-1.230e-01;SOR=0.706	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1164	20	0	1	0
chr8	47934063	47934063	G	A	exonic	PRKDC	.	nonsynonymous SNV	PRKDC:NM_001081640:exon15:c.C1525T:p.R509C	Immunodeficiency 26, with or without neurologic abnormalities, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	562467	not_specified|Severe_combined_immunodeficiency_due_to_DNA-PKcs_deficiency	MedGen:CN169374|MONDO:MONDO:0014423,MedGen:C4014833,OMIM:615966,Orphanet:317425	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.19	T	0.003	B	0.004	B	0.340	N	1.000	N	.	.	4.33	T	-0.940	T	0.009	T	0.133	1.689	11.61	2.69	0.657	0.578	5.968	0.019	0.0201114939206	8.3e-05	0.000199681	0.0003	0	0.0003	0	0	0.0002	0.0011	0.0009	0.0002393	37	154602	rs147314874	0.0003	0.0003	0.0002	0.0003	0.0021	0.0003	0.0003	0.0012	0.0009	2.988e-05	0.0001	0.0003	0	0	0.0021	0.0002	0.0004	0.0011	0.0001	0.0001	0.0001	0.0001	0.0002	8.166e-05	6.723e-05	0.0001	9.901e-05	2.407e-05	0	6.539e-05	0.0003	0	0	0	0.0002	0.0009	0	0.177	0.22224	T	0.19	0.28482	T	0.002	0.11197	B	0.002	0.10090	B	0.340080	0.04182	N	1.440930	1	0.08975	N	.	.	.	4.33	0.02538	T	-0.79	0.21860	N	0.323	0.36779	-0.9398	0.42648	T	0.009	0.03054	T	9	0.02349329	0.00616	T	0.020111	0.42635	T	0.019	0.03383	.	.	0.23798241625	0.23396	0.1732854160090424	0.17248	0.635647164281	0.57374	0.241708546877	0.02946	T	0.075371	0.35161	T	-0.595671	0.00155	T	-0.693172	0.06207	T	0.036937261446488	0.03144	T	0.687331	0.29630	T	0.14550202	0.33351	0.035709176	0.02875	0.14550202	0.33350	0.035709176	0.02875	-4.643	0.32707	T	.	.	0.088	0.11461	B	.;.	.;.	1.884254	0.23932	16.21	0.9483051374439202	0.25609	0.15991	0.19179	N	AEFBI	0.058660	0.11023	N	-0.758588514545695	0.14401	0.7170613	-0.776090216856778	0.15082	0.7914311	0.110805297588497	0.16643	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.52	2.69	0.30923	0.644000	0.24455	0.757000	0.21283	0.671000	0.69459	0.000000	0.06391	0.000000	0.08366	0.132000	0.19645	0.2291:0.1411:0.6298:0.0	5.968	0.18568	542	0.72843	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1455.98	42	chr8	47934063	.	G	A	1455.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=901;ExcessHet=0.0000;FS=3.725;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=-5.950e-01;SOR=1.106	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr8	47936498	47936498	G	A	exonic	PRKDC	.	nonsynonymous SNV	PRKDC:NM_001081640:exon12:c.C1133T:p.A378V	Immunodeficiency 26, with or without neurologic abnormalities, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	637294	Severe_combined_immunodeficiency_due_to_DNA-PKcs_deficiency|not_specified	MONDO:MONDO:0014423,MedGen:C4014833,OMIM:615966,Orphanet:317425|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.34	T	0.604	P	0.371	B	0.000	D	0.999	D	.	.	4.31	T	-0.725	T	0.272	T	0.204	3.984	20.4	5.73	2.698	9.322	19.900	0.111	0.0191933583896	.	.	1.657e-05	0	0	0	0	2.999e-05	0	0	1.29e-05	2	154602	rs760093098	4.105e-06	4.104e-06	2.723e-06	5.501e-06	5.396e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.088	0.40586	T	0.469	0.39417	P	0.282	0.43568	B	0.000172	0.48594	D	0.137041	0.998879	0.45601	D	.	.	.	4.31	0.66652	T	-1.69	0.40274	N	0.321	0.37197	-0.7253	0.59200	T	0.272	0.64391	T	9	0.2554245	0.42935	T	0.019193	0.41484	T	0.111	0.31313	0.383	0.40134	0.552363726464	0.54894	0.17926525361714812	0.17845	0.213851256772	0.23908	0.379690170288	0.22212	T	0.190995	0.54570	T	-0.0678373	0.41671	T	-0.319734	0.42604	T	0.678820013999939	0.39734	D	0.90061	0.65471	D	0.15634009	0.35285	0.16699564	0.38549	0.15634009	0.35285	0.16699564	0.38548	-3.326	0.14074	T	0.6276197664565571	0.69665	0.133	0.28778	B	.;.	.;.	4.154525	0.62344	24.4	0.99840789648593198	0.92143	0.99548	0.97318	D	AEFBI	0.870647	0.79170	D	0.367578246565765	0.59672	4.14877	0.466960395796334	0.65813	4.871495	0.999999999997208	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.73	5.73	0.89730	9.448000	0.96761	8.696000	0.78092	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	19.900	0.96983	542	0.72843	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	720.98	33	chr8	47936498	.	G	A	720.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.225e+00;DP=746;ExcessHet=0.0000;FS=1.119;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=-6.930e-01;SOR=0.473	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1223	20	0	1	0
chr8	47962392	47962392	A	G	exonic	MCM4	.	nonsynonymous SNV	MCM4:NM_005914:exon4:c.A487G:p.K163E	Natural killer cell and glucocorticoid deficiency with DNA repair defect, Autosomal recessive	.	0	1512	10	0	0	10	0.00329598	.	.	314607	not_provided|Primary_immunodeficiency_with_natural-killer_cell_deficiency_and_adrenal_insufficiency	MedGen:C3661900|MONDO:MONDO:0012383,MedGen:C1864947,OMIM:609981,Orphanet:75391	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.126	B	0.06	B	0.000	D	1.000	D	2.165	M	2.72	T	-1.121	T	0.047	T	0.789	2.732	15.09	5.61	2.142	8.653	15.803	0.207	0.0360211033476	0.0008	.	0.0006	0	8.649e-05	0	0.0002	0.0009	0.0011	0.0004	0.0005627	87	154602	rs34206069	0.0005	0.0005	0.0004	0.0005	0.0062	0.0004	0.0004	0.0046	0.0041	0.0001	0.0003	0.0053	0	0.0003	0.0062	0.0003	0.0010	0.0004	0.0005	0.0005	0.0005	0.0005	0.0008	0.0004	0.0004	0.0004	0.0004	4.81e-05	0	0.0003	0.0060	0	0.0004	0.0068	0.0006	0.0009	0.0008	0.175	0.22400	T	0.624	0.07342	T	0.126	0.26920	B	0.06	0.26717	B	0.000000	0.84330	D	0.090253	1	0.81001	D	2.79	0.81396	M	2.72	0.11947	T	-2.11	0.48020	N	0.694	0.69913	-1.1215	0.02239	T	0.047	0.19958	T	9	0.013287008	0.00282	T	0.036021	0.56721	D	0.207	0.49555	.	.	0.220303561663	0.21668	0.6464708432910536	0.64582	0.296881417285	0.32077	0.691836297512	0.65969	T	0.211728	0.57258	T	-0.230912	0.16527	T	-0.117695	0.61990	T	0.0680417964843266	0.08374	T	0.914909	0.71446	D	0.76549876	0.81779	0.65940475	0.80047	0.7058984	0.78382	0.70069766	0.82366	-14.744	0.95224	D	0.35545787551828145	0.45234	0.723	0.76291	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.602358	0.50884	23.0	0.985095756757287	0.42325	0.99156	0.92054	D	AEFDGBCI	0.948456	0.96010	D	0.194967922276197	0.50958	3.280963	0.345863227491561	0.58259	3.995446	0.999999999999242	0.74766	0.660085	0.49399	0	0.685571	0.66316	0	0.685571	0.62057	0	0.651492	0.60203	0	.	.	5.61	5.61	0.85347	8.697000	0.91034	11.227000	0.89965	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	15.803	0.78241	542	0.72843	.;.;MCM N-terminal domain;.;MCM N-terminal domain;MCM N-terminal domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1154.98	33	chr8	47962392	.	A	G	1154.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.810e-01;DP=776;ExcessHet=0.0000;FS=0.924;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.00;ReadPosRankSum=-7.830e-01;SOR=0.553	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1084	20	0	1	0
chr8	48043139	48043139	G	A	exonic	UBE2V2	.	nonsynonymous SNV	UBE2V2:NM_003350:exon2:c.G123A:p.M41I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.0	B	0.003	B	0.000	D	1.000	D	0.57	N	1.42	T	-1.096	T	0.059	T	0.815	1.921	12.38	4.89	1.438	9.698	14.715	0.292	0.00579930350009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.925	0.07378	T	0.915	0.08930	T	0.0	0.02946	B	0.003	0.08700	B	0.000000	0.84330	D	0.033973	0.999954	0.81001	D	1.22	0.30592	L	1.23	0.36872	T	-3.55	0.68764	D	0.682	0.83576	-1.0959	0.04625	T	0.059	0.24797	T	10	0.4142127	0.61810	T	0.005799	0.15072	T	0.349	0.67049	0.477	0.55502	0.592110308708	0.58887	0.6457749516065192	0.64512	0.766433794634	0.64532	0.873921513557	0.93123	D	0.163586	0.50870	T	0.111	0.65477	D	-0.0780449	0.65047	T	0.881923615932465	0.53201	D	0.938506	0.76886	D	0.60342664	0.72875	0.6403629	0.78990	0.60342664	0.72876	0.6403629	0.78991	-5.857	0.45067	T	.	.	0.777	0.76259	P	.;.;.;.	.;.;.;.	4.844440	0.79118	27.0	0.96941664290118257	0.31699	0.98783	0.86796	D	AEFBI	0.930459	0.91779	D	-0.0444632869917207	0.39850	2.356804	0.179115515771915	0.48703	3.082758	0.999999984349087	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.76	4.89	0.63387	9.893000	0.98592	11.680000	0.94210	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0696:0.0:0.9304:0.0	14.715	0.68874	531	0.73574	Ubiquitin-conjugating enzyme E2|Ubiquitin-conjugating enzyme E2;Ubiquitin-conjugating enzyme E2;Ubiquitin-conjugating enzyme E2;Ubiquitin-conjugating enzyme E2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05	57.49	84	chr8	48043139	.	G	A	57.49	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-3.560e-01;DP=1071;ExcessHet=0.1072;FS=90.572;InbreedingCoeff=-0.0781;MLEAC=2;MLEAF=0.050;MQ=60.00;MQRankSum=0.00;QD=0.37;ReadPosRankSum=0.759;SOR=7.111	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1065	18	0	2	1
chr8	52656666	52656666	C	T	exonic	RB1CC1	.	nonsynonymous SNV	RB1CC1:NM_001083617:exon15:c.G3163A:p.D1055N	Breast cancer, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.999	D	0.913	D	0.000	D	1.000	D	1.04	L	3.81	T	-1.020	T	0.030	T	0.101	4.271	22.3	5.4	2.705	7.136	19.544	0.214	0.0109439649547	.	0.000599042	0.0008	0	8.663e-05	0	0	0	0	0.0055	0.0006274	97	154602	rs373240041	0.0003	0.0003	0.0002	0.0004	0.0049	0.0003	0.0003	0.0045	0.0044	2.987e-05	0	0	0	0	0	0	0.0003	0.0049	0.0001	0.0001	6.424e-05	0.0002	0.0039	8.659e-05	7.252e-05	0.0026	0.0021	2.405e-05	0	0	0	0	0	0	0	0	0.0039	0.003	0.68238	D	0.014	0.62352	D	0.998	0.77913	D	0.82	0.64886	P	0.000000	0.84330	D	0.048419	1	0.81001	D	2.38	0.68558	M	3.81	0.03754	T	-0.11	0.08653	N	0.368	0.40963	-1.0205	0.23551	T	0.030	0.13067	T	10	0.005777091	0.00129	T	0.010944	0.28041	T	0.214	0.50650	0.07	0.00395	0.544095356242	0.54064	0.15024467134641303	0.14946	0.659773731365	0.58824	0.588257193565	0.51248	T	0.357976	0.72461	T	-0.52213	0.00428	T	-0.521689	0.20123	T	0.229214303869153	0.21914	T	0.919908	0.71037	D	0.286185	0.51636	0.22710465	0.47710	0.29867014	0.52785	0.24412848	0.49871	-4.457	0.30322	T	.	.	0.167	0.48261	B	.;.	.;.	4.275620	0.65092	24.8	0.99914016060464228	0.98238	0.98962	0.89228	D	AEFBI	0.858830	0.77641	D	0.583546512434683	0.72149	5.760326	0.6227100287078	0.76593	6.519642	0.999999999850515	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.4	5.4	0.77957	7.197000	0.77336	7.657000	0.64017	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:1.0:0.0:0.0	19.544	0.95276	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1321.98	37	chr8	52656666	.	C	T	1321.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.459;DP=789;ExcessHet=0.0000;FS=0.751;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.96;ReadPosRankSum=0.671;SOR=0.818	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	20	0	1	0
chr8	54459229	54459229	C	T	exonic	SOX17	.	nonsynonymous SNV	SOX17:NM_022454:exon2:c.C479T:p.A160V,	Vesicoureteral reflux 3, Autosomal dominant	.	2	1476	44	0	0	44	0.0146862	.	.	711581	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.54	T	0.003	B	0.004	B	0.057	N	0.941	N	0.6	N	-4.31	D	-0.192	T	0.696	D	0.034	1.873	12.22	2.03	0.292	5.163	4.299	0.282	.	0.0024	0.00119808	0.0096	0.0011	0.0038	0	0.0042	0.0119	0.0177	0.0117	0.0038227	591	154602	rs200011294	0.0059	0.0057	0.0056	0.0061	0.0112	0.0058	0.0057	0.0106	0.0104	0.0008	0.0015	0.0078	2.965e-05	0.0028	0.0082	0.0060	0.0062	0.0112	0.0038	0.0038	0.0041	0.0035	0.0079	0.0035	0.0034	0.0059	0.0053	0.0011	0	0.0019	0.0075	0.0002	0.0024	0.0137	0.0059	0.0028	0.0079	0.165	0.23271	T	0.212	0.26549	T	0.003	0.11197	B	0.004	0.10090	B	0.056805	0.22530	N	0.459900	0.941068	0.26790	N	1.65	0.42232	L	-4.31	0.97195	D	-1.62	0.38924	N	0.088	0.06587	-0.1919	0.77880	T	0.696	0.89514	D	10	0.0062076747	0.00140	T	.	.	.	0.282	0.59981	.	.	0.612969470845	0.60985	0.3042132094351527	0.30334	0.994442852955	0.74171	0.781738877296	0.79190	T	0.497817	0.81953	T	-0.386289	0.02842	T	-0.318259	0.42765	T	0.00651151177596151	0.00073	T	0.661834	0.27067	T	0.03865075	0.05189	0.0676886	0.14038	0.040026456	0.05637	0.0676886	0.14038	-6.272	0.48500	T	0.2399140830995001	0.32497	0.103	0.18456	B	.	.	1.875178	0.23817	16.16	0.98841066517633036	0.47119	0.87261	0.46747	D	AEFDBHCI	0.637359	0.61617	D	-0.786852546135638	0.13652	0.6740818	-0.676008962276269	0.17561	0.9343258	0.999999669968903	0.74766	0.623204	0.39778	0	0.563428	0.19063	0	0.378051	0.06126	2	0.372554	0.06265	0	.	.	3.93	2.03	0.25714	1.542000	0.35742	3.048000	0.36109	-0.384000	0.05376	0.008000	0.17931	0.995000	0.32472	0.769000	0.36481	0.1588:0.5981:0.1542:0.0889	4.299	0.10359	905	0.23532	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1380.98	34	chr8	54459229	.	C	T	1380.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.883e+00;DP=802;ExcessHet=0.0000;FS=2.975;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.87;ReadPosRankSum=-1.299e+00;SOR=1.128	GT:AD:DP:GQ:PL	0/1:35,52:87:99:1395,0,1006	20	0	1	0
chr8	54459709	54459709	A	G	exonic	SOX17	.	nonsynonymous SNV	SOX17:NM_022454:exon2:c.A959G:p.Q320R,	Vesicoureteral reflux 3, Autosomal dominant	.	0	1518	2	0	2	4	0.000658328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.246	B	0.036	B	.	.	1.000	N	0	N	-1.07	T	-0.987	T	0.169	T	0.156	-1.312	0.035	0.65	-0.009	-2.228	7.521	0.110	0.0193181855625	.	.	7.156e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs757952976	2.867e-06	3.421e-06	1.417e-06	4.352e-06	2.783e-05	6.7e-07	4.5e-07	.	.	0	0	0	2.783e-05	0	0	9.236e-07	1.718e-05	1.246e-05	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.598	0.05668	T	0.56	0.09113	T	0.246	0.31102	B	0.036	0.22909	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	-1.07	0.76948	T	-0.01	0.07155	N	0.196	0.21580	-0.9873	0.33273	T	0.169	0.50987	T	9	0.08896625	0.15367	T	0.019318	0.41651	T	0.110	0.31079	0.236	0.16608	0.730879104249	0.72848	0.1616537117496091	0.16086	0.878080247472	0.69652	0.702015340328	0.67436	T	0.279673	0.65235	T	-0.214783	0.18711	T	-0.423753	0.30645	T	0.0506441746871141	0.05612	T	0.326967	0.06756	T	0.033716563	0.03645	0.06686196	0.13754	0.033716563	0.03644	0.06686196	0.13754	-9.881	0.73196	D	0.2453546888869637	0.33232	0.119	0.24464	B	.	.	0.671043	0.10395	7.119	0.51279390940111014	0.04534	0.19431	0.20658	N	AEFDBHCI	0.191456	0.31865	N	-1.21901212010154	0.04724	0.2138397	-1.2783145362374	0.04724	0.2235228	0.999999990506155	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.372554	0.06265	0	.	.	2.1	0.65	0.16984	0.094000	0.14946	-0.377000	0.09567	0.582000	0.30178	0.018000	0.19461	0.016000	0.20520	0.072000	0.16771	0.4422:0.5577:0.0:0.0	7.521	0.26795	905	0.23532	Sox, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	856.98	34	chr8	54459709	.	A	G	856.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.321e+00;DP=813;ExcessHet=0.0000;FS=0.899;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.74;ReadPosRankSum=-5.460e-01;SOR=0.856	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,107,1454	20	0	1	0
chr8	54626461	54626461	C	T	exonic	RP1	.	nonsynonymous SNV	RP1:NM_006269:exon4:c.C2579T:p.T860I,	Retinitis pigmentosa 1, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.396	B	0.086	B	0.057	N	1.000	N	0	N	0.85	T	-1.052	T	0.049	T	0.124	1.359	10.47	-1.21	-0.206	-0.071	5.167	0.051	0.0134922662865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.361e-06	0	2.237e-05	0	0	.	.	0	2.237e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.007	0.69154	D	0.396	0.34753	B	0.086	0.29521	B	0.057381	0.22486	N	0.419859	1	0.08975	N	0.69	0.16971	N	0.85	0.47130	T	-2.32	0.51478	N	0.092	0.07125	-1.0524	0.13736	T	0.049	0.20711	T	10	0.04807657	0.04211	T	0.013492	0.32933	T	0.051	0.14325	0.146	0.04941	0.262662153117	0.25859	0.11146658129359754	0.11075	0.0679227945487	0.07604	0.316951036453	0.12959	T	0.053029	0.29327	T	-0.267154	0.12076	T	-0.621524	0.11066	T	0.166790574789047	0.18359	T	0.470853	0.13943	T	0.11333717	0.26768	0.15483971	0.36322	0.11333717	0.26768	0.15483971	0.36321	-4.038	0.24370	T	0.11735315509079562	0.10711	0.180	0.39168	B	.	.	1.265013	0.16631	12.66	0.98484038706720278	0.42014	0.03337	0.08414	N	AEFDBI	0.024261	0.01472	N	-1.03837289511414	0.07817	0.364466	-1.00620093437213	0.09649	0.481241	0.139461802584696	0.17245	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.63	-1.21	0.09033	-0.115000	0.10713	1.195000	0.24794	-0.785000	0.03297	0.000000	0.06391	0.998000	0.33993	0.968000	0.53726	0.4334:0.2891:0.2775:0.0	5.167	0.14419	796	0.45353	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	2148.98	34	chr8	54626461	.	C	T	2148.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=909;ExcessHet=0.0000;FS=6.337;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=0.632;SOR=1.130	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1182	20	0	1	0
chr8	55773664	55773664	A	G	exonic	TGS1	.	nonsynonymous SNV	TGS1:NM_024831:exon1:c.A46G:p.I16V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.0	B	0.0	B	0.638	N	1.000	N	1.79	L	2.94	T	-0.976	T	0.023	T	0.091	0.581	7.138	-9.95	-3.098	-1.869	12.462	0.061	0.00188866697486	.	0.000199681	1.653e-05	0	0	0.0002	0	0	0	0	1.94e-05	3	154602	rs200713455	1.371e-05	1.505e-05	6.818e-06	2.066e-05	0.0001	8.95e-06	7.28e-06	5.427e-05	4.065e-05	0	0	0	0.0001	0	0	4.5e-06	1.658e-05	0.0001	1.969e-05	1.969e-05	1.285e-05	2.685e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.372e-05	0	0	0	0	0.0006	0	0	0	0	0	0.369	0.11586	T	0.312	0.19599	T	0.0	0.02946	B	0.0	0.01387	B	0.638339	0.05853	N	1.191810	1	0.08975	N	0.895	0.22405	L	2.94	0.09728	T	-0.06	0.07882	N	0.021	0.00339	-0.9764	0.35816	T	0.023	0.09696	T	10	0.014233738	0.00300	T	0.001889	0.03325	T	0.061	0.17616	.	.	0.548611889291	0.54518	0.06264575779289758	0.06204	0.0201066416004	0.01973	0.29915958643	0.10276	T	0.026423	0.19558	T	-0.547325	0.00303	T	-0.754671	0.03307	T	0.141830831766129	0.16432	T	0.459554	0.13284	T	0.043530025	0.06802	0.058731068	0.10903	0.043530025	0.06801	0.058731068	0.10902	-3.068	0.10932	T	.	.	0.064	0.01762	B	.	.	-0.826967	0.01055	0.045	0.54005299357619141	0.05051	0.01120	0.04086	N	ALL	0.047384	0.07973	N	-1.85184753395533	0.00430	0.01850767	-1.99096192878285	0.00320	0.0141338	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.97	-9.95	0.00369	-1.892000	0.01702	-1.152000	0.06178	-0.742000	0.03659	0.000000	0.06391	0.000000	0.08366	0.142000	0.20019	0.1329:0.577:0.2902:0.0	12.462	0.55077	834	0.38640	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1840.98	34	chr8	55773664	.	A	G	1840.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.057e+00;DP=858;ExcessHet=0.0000;FS=5.688;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=0.413;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,74:141:99:0|1:55773664_A_G:1855,0,1851:55773664	20	0	1	0
chr8	55786599	55786599	A	G	exonic	TGS1	.	nonsynonymous SNV	TGS1:NM_001317902:exon3:c.A422G:p.K141R	.	.	426	1077	18	1	0	20	0.00919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.183	B	0.083	B	0.000	N	0.938	D	1.545	L	2.48	T	-1.101	T	0.036	T	0.307	3.012	16.05	4.64	1.026	2.292	11.750	0.033	.	0.0003	0.00299521	0.0025	0.0002	0.0002	0	0	0.0002	0.0044	0.0172	0.0021927	339	154602	rs148830309	0.0012	0.0012	0.0007	0.0018	0.0176	0.0012	0.0012	0.0169	0.0166	2.987e-05	6.708e-05	0.0008	0	0	0.0042	0.0001	0.0009	0.0176	0.0006	0.0006	0.0004	0.0009	0.0149	0.0005	0.0005	0.0121	0.0111	7.213e-05	0	0	0.0003	0.0002	0	0	0.0003	0.0009	0.0149	0.029	0.45756	D	0.101	0.38596	T	0.183	0.29179	B	0.083	0.29179	B	0.000008	0.62929	N	0.106806	0.937853	0.37205	D	2.225	0.63025	M	2.48	0.14657	T	-1.02	0.26843	N	0.15	0.15328	-1.1005	0.04032	T	0.036	0.15553	T	10	0.0075750947	0.00172	T	.	.	.	0.033	0.08068	.	.	0.490352026379	0.48669	0.4517214522943962	0.45090	0.0234045877946	0.02374	0.393132835627	0.24110	T	0.048339	0.27988	T	-0.501267	0.00562	T	-0.477875	0.24673	T	0.0320593373173094	0.02316	T	0.69743	0.30707	T	0.0963177	0.22684	0.12326074	0.29725	0.0963177	0.22683	0.12326074	0.29724	-8.014	0.61165	D	.	.	0.080	0.07602	B	.	.	2.416684	0.31068	18.63	0.99785824236703013	0.87219	0.91287	0.53230	D	AEFGBI	0.317426	0.42142	N	-0.0436488202988635	0.39887	2.359563	0.0930377614157046	0.44198	2.706191	0.999989863806197	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.79	4.64	0.57399	2.295000	0.43236	6.087000	0.53406	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9315:0.0:0.0685:0.0	11.750	0.51111	850	0.35610	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2183.98	34	chr8	55786599	.	A	G	2183.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.040e-01;DP=875;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=-1.523e+00;SOR=0.727	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr8	56441706	56441706	C	G	exonic	PENK	.	nonsynonymous SNV	PENK:NM_001135690:exon4:c.G370C:p.E124Q,	.	.	416	1099	7	0	0	7	0.0031746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.921	P	0.556	P	0.001	N	1.000	D	1.495	L	2.22	T	-1.197	T	0.065	T	0.178	3.427	17.59	5.98	2.838	5.359	19.431	0.065	.	7.7e-05	0.00519169	0.0041	0.0003	0.0003	0.0001	0	2.997e-05	0.0022	0.0292	0.0035058	542	154602	rs147090338	0.0018	0.0018	0.0009	0.0027	0.0288	0.0017	0.0017	0.0279	0.0275	0.0001	2.236e-05	0	2.519e-05	0	0.0007	5.396e-06	0.0020	0.0288	0.0008	0.0008	0.0005	0.0011	0.0227	0.0007	0.0006	0.0192	0.0179	0.0001	0	0	0	0	0	0	4.416e-05	0.0005	0.0227	0.116	0.28395	T	0.06	0.45744	T	0.921	0.51088	P	0.556	0.49411	P	0.001206	0.39820	N	0.296062	0.633684	0.32813	D	2.205	0.62170	M	2.22	0.18248	T	-1.47	0.35991	N	0.208	0.28146	-1.1967	0.00176	T	0.065	0.26913	T	10	0.0038956702	0.00074	T	.	.	.	0.065	0.18881	.	.	0.564910210825	0.56154	0.22368707163992335	0.22283	0.100047662187	0.11309	0.361652821302	0.19626	T	0.164666	0.51021	T	-0.548827	0.00296	T	-0.539499	0.18346	T	0.0533750833274053	0.06083	T	0.845915	0.52533	T	0.09356657	0.21979	0.08328832	0.19076	0.09356657	0.21978	0.08328832	0.19076	-5.33	0.40239	T	.	.	0.136	0.30238	B	.;.	.;.	3.968572	0.58257	24.0	0.99719435837652937	0.81914	0.91605	0.53878	D	AEFDHCI	0.629825	0.61140	D	0.591217324865336	0.72626	5.835435	0.655746129543652	0.79038	6.998946	0.851082888106985	0.25046	0.653496	0.48692	0	0.61073	0.52368	0	0.596874	0.31795	0	0.542086	0.14980	0	.	.	5.98	5.98	0.97147	2.904000	0.48417	5.985000	0.52234	0.599000	0.40250	0.896000	0.31333	1.000000	0.68203	0.952000	0.50033	0.0:1.0:0.0:0.0	19.431	0.94764	749	0.51929	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3676.98	33	chr8	56441706	.	C	G	3676.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.929;DP=973;ExcessHet=0.0000;FS=0.924;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=1.92;SOR=0.622	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1232	20	0	1	0
chr8	58815669	58815669	G	A	exonic	TOX	.	nonsynonymous SNV	TOX:NM_014729:exon7:c.C1061T:p.S354L,	.	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	B	0.017	B	0.088	N	1.000	D	0	N	2.65	T	-0.954	T	0.022	T	0.479	3.637	18.50	6.07	2.884	8.822	20.644	0.167	0.0113890407399	7.7e-05	0.000199681	4.142e-05	0	0	0.0002	0.0002	3.006e-05	0	0	3.88e-05	6	154602	rs200969018	7.046e-05	7.046e-05	7.896e-05	6.188e-05	0.0001	5.914e-05	5.523e-05	6.696e-05	6.197e-05	5.974e-05	2.236e-05	0	0.0001	0	0	8.094e-05	3.312e-05	4.638e-05	5.255e-05	5.25e-05	5.141e-05	5.373e-05	0.0004	2.556e-05	1.83e-05	6.823e-05	2.855e-05	7.221e-05	0	6.54e-05	0	0.0004	0	0	1.47e-05	0.0005	0	0.006	0.61437	D	0.008	0.67890	D	0.196	0.29532	B	0.017	0.18140	B	0.088227	0.20491	N	0.513748	0.99999	0.58761	D	0.69	0.16971	N	2.65	0.12676	T	-1.95	0.45222	N	0.487	0.52119	-0.9544	0.40203	T	0.022	0.09147	T	9	0.1412982	0.26849	T	0.011389	0.28966	T	0.167	0.42761	.	.	0.102598925029	0.09809	0.46997513749895925	0.46916	0.266766069484	0.29218	0.55779260397	0.46955	T	0.34512	0.71354	T	-0.286396	0.10000	T	-0.357015	0.38398	T	0.151521981886854	0.17224	T	0.906009	0.66877	D	0.08548093	0.19830	0.11386646	0.27483	0.08548093	0.19830	0.11386646	0.27483	-5.837	0.44896	T	.	.	0.141	0.30997	B	.	.	4.422469	0.68507	25.2	0.99860263632034008	0.93911	0.98919	0.88625	D	AEFBI	0.874601	0.79756	D	-0.0070301381627737	0.41537	2.486233	0.193199914345373	0.49473	3.150094	0.999999999999883	0.74766	0.732398	0.92422	0	0.693144	0.66847	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	6.07	6.07	0.98675	8.949000	0.92922	9.993000	0.82996	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.0:1.0:0.0	20.644	0.99572	954	0.10045	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1843.98	143	chr8	58815669	.	G	A	1843.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.300e-01;DP=846;ExcessHet=0.0000;FS=4.058;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=-8.900e-02;SOR=0.431	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1265	20	0	1	0
chr8	60742144	60742144	G	A	exonic	CHD7	.	nonsynonymous SNV	CHD7:NM_001316690:exon1:c.G712A:p.V238M	CHARGE syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 5 with or without anosmia	YES	0	1521	1	0	0	1	0.000328623	.	.	192487	CHARGE_syndrome|not_provided|not_specified	MONDO:MONDO:0008965,MedGen:C0265354,OMIM:214800,Orphanet:138|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.26	T	0.031	B	0.009	B	0.027	N	0.582	N	0.69	N	1.8	T	-0.544	T	0.327	T	0.147	1.273	10.16	3.91	1.027	3.342	10.974	0.030	0.0482758932149	0.0013	0.000798722	0.0004	0.0044	0.0002	0.0001	0	1.501e-05	0	0	0.0003428	53	154602	rs200898742	0.0001	0.0001	0.0001	0.0001	0.0042	0.0001	0.0001	0.0036	0.0034	0.0042	0.0004	0	0.0001	0	0.0002	6.296e-06	0.0003	0	0.0014	0.0014	0.0014	0.0015	0.0051	0.0013	0.0012	0.0045	0.0043	0.0051	0	0.0003	0	0	0	0	1.47e-05	0.0005	0	0.317	0.19710	T	0.225	0.25514	T	0.031	0.20130	B	0.009	0.14300	B	0.027050	0.25820	N	0.189493	0.605923	0.31094	N	0.695	0.17993	N	-1.76	0.83578	D	-0.16	0.09965	N	0.174	0.24010	-0.5444	0.66997	T	0.327	0.69487	T	10	0.0068236887	0.00155	T	0.048276	0.63300	D	0.030	0.07022	.	.	0.6380952546	0.63512	0.20411073365929738	0.20328	0.10325729537	0.11677	0.548598051071	0.45660	T	0.092886	0.39097	T	-0.38168	0.03040	T	-0.318422	0.42749	T	0.00975706392356496	0.00128	T	0.808919	0.48242	T	0.04297422	0.06616	0.035848856	0.02916	0.04297422	0.06616	0.035848856	0.02915	-2.925	0.09518	T	.	.	0.084	0.12084	B	.;.;.	.;.;.	2.320502	0.29716	18.21	0.95761404197805178	0.27752	0.83383	0.42504	D	AEFDGBCI	0.308933	0.41537	N	-0.237534991891463	0.31604	1.773792	-0.0654258728966093	0.36829	2.148432	0.999998885283044	0.74766	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.635551	0.53088	0	.	.	5.04	3.91	0.44383	3.424000	0.52524	5.701000	0.49379	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.1155:0.0:0.8845:0.0	10.974	0.46668	868	0.31772	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	2369.98	33	chr8	60742144	.	G	A	2369.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.540;DP=891;ExcessHet=0.0000;FS=4.448;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=-1.588e+00;SOR=0.439	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1316	20	0	1	0
chr8	60742499	60742499	A	G	exonic	CHD7	.	nonsynonymous SNV	CHD7:NM_001316690:exon1:c.A1067G:p.N356S	CHARGE syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 5 with or without anosmia	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.0	B	0.001	B	0.035	N	0.810	N	0.895	L	2.08	T	-0.879	T	0.248	T	0.057	0.644	7.460	-0.743	-0.339	0.520	10.164	0.088	0.0453122799724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.28646	T	0.439	0.13595	T	0.0	0.02946	B	0.001	0.04355	B	0.034764	0.24728	N	0.291123	0.824554	0.29017	N	-0.345	0.03330	N	-1.42	0.80645	T	-0.56	0.27463	N	0.175	0.18784	-0.8791	0.49833	T	0.248	0.61785	T	10	0.09777632	0.17634	T	0.045312	0.61921	D	0.088	0.25558	0.213	0.13210	0.55389084163	0.55047	0.17623835270004404	0.17542	0.0813104845112	0.09147	0.301614105701	0.10641	T	0.078802	0.35979	T	-0.193142	0.21797	T	-0.515212	0.20781	T	0.100530375086498	0.12416	T	0.754025	0.40135	T	0.02526135	0.01445	0.041012846	0.04563	0.02526135	0.01444	0.041012846	0.04563	-2.868	0.08828	T	.	.	0.052	0.01143	B	.;.;.	.;.;.	0.450793	0.08207	4.946	0.81373758136942109	0.13653	0.33048	0.24734	N	AEFDGBCI	0.031888	0.03496	N	-0.759457557939838	0.14377	0.7157102	-0.66150096692734	0.17927	0.9554136	0.999451251011823	0.39788	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.67	-0.743	0.10545	0.529000	0.22727	1.433000	0.26463	-0.053000	0.16966	0.997000	0.40164	0.998000	0.33993	0.998000	0.85391	0.6942:0.0:0.3058:0.0	10.164	0.42044	868	0.31772	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	2685.98	33	chr8	60742499	.	A	G	2685.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=1013;ExcessHet=0.0000;FS=0.518;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.50;ReadPosRankSum=0.981;SOR=0.755	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1316	20	0	1	0
chr8	60781383	60781383	-	AAAGCA	exonic	CHD7	.	nonframeshift insertion	CHD7:NM_017780:exon3:c.2049_2050insAAAGCA:p.K686_T687insAK,	CHARGE syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 5 with or without anosmia	.	3	1501	18	0	0	18	0.00596026	.	.	101673	not_specified|CHARGE_syndrome|not_provided|Inborn_genetic_diseases|Hypogonadism_with_anosmia	MedGen:CN169374|MONDO:MONDO:0008965,MedGen:C0265354,OMIM:214800,Orphanet:138|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018800,MedGen:C0162809,Orphanet:478	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0091	0.00339457	0.0068	0.0038	0.0085	0	0.0010	0.0117	0.0033	0.0005	0.0017673	46	26028	rs377139749	0.0101	0.0098	0.0104	0.0099	0.0119	0.0100	0.0099	0.0117	0.0116	0.0015	0.0071	0.0053	0	0.0035	0.0085	0.0119	0.0091	0.0012	0.0077	0.0077	0.0077	0.0077	0.0119	0.0073	0.0072	0.0112	0.0110	0.0021	0.0581	0.0100	0.0046	0	0.0030	0.0034	0.0119	0.0076	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1832.94	39	chr8	60781383	.	G	GAAAGCA	1832.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.276;DP=909;ExcessHet=0.0000;FS=2.307;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=-3.070e-01;SOR=0.962	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,108,1620	20	0	1	0
chr8	60856055	60856055	G	A	exonic	CHD7	.	nonsynonymous SNV	CHD7:NM_017780:exon33:c.G7017A:p.M2339I,	CHARGE syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 5 with or without anosmia	.	0	1521	1	0	0	1	0.000328623	.	.	834970	not_provided|Inborn_genetic_diseases|CHARGE_syndrome	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008965,MedGen:C0265354,OMIM:214800,Orphanet:138	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.74	T	0.0	B	0.0	B	0.000	D	1.000	D	0.695	N	-1.35	T	-0.624	T	0.319	T	0.236	2.640	14.79	5.84	2.759	4.722	20.139	0.333	0.0747461457691	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1247369056	5.482e-06	6.156e-06	5.452e-06	5.512e-06	0.0002	2.36e-06	1.7e-06	1.94e-06	1.28e-06	0	0	0	0	0	0.0002	5.401e-06	0	1.168e-05	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.116	0.28395	T	0.418	0.14200	T	0.0	0.02946	B	0.0	0.01387	B	0.000178	0.48594	D	0.213026	0.997374	0.81001	D	-0.345	0.03330	N	-1.35	0.80035	T	-0.29	0.11728	N	0.657	0.66700	-0.6243	0.63810	T	0.319	0.68848	T	10	0.3399675	0.51073	T	0.074746	0.72116	D	0.333	0.65522	0.313	0.28774	0.62133168466	0.61826	0.11405143200442942	0.11333	0.174460457525	0.19643	0.511897265911	0.40488	T	0.070734	0.34033	T	-0.0420936	0.45639	T	-0.298241	0.44910	T	0.358110315614382	0.27335	T	0.833317	0.50212	T	0.095855005	0.22568	0.15444237	0.36247	0.095855005	0.22568	0.15444237	0.36246	-4.133	0.25775	T	0.060559434636289176	0.01671	0.304	0.53269	B	.	.	3.648711	0.51769	23.1	0.98171556834533114	0.38865	0.94866	0.62602	D	AEFDBI	0.491743	0.52867	N	-0.123947280951334	0.36352	2.100037	0.12146221785838	0.45648	2.824304	0.99992873925507	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	4.053000	0.57139	11.866000	0.98448	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.139	0.98055	810	0.42761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2027.98	35	chr8	60856055	.	G	A	2027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.726e+00;DP=882;ExcessHet=0.0000;FS=0.553;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=1.33;SOR=0.746	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1240	20	0	1	0
chr8	63186720	63186720	T	A	exonic	YTHDF3	.	nonsynonymous SNV	YTHDF3:NM_001277816:exon3:c.T556A:p.S186T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0403124970032	.	.	8.281e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs776453859	2.737e-06	2.736e-06	4.084e-06	1.375e-06	2.698e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	0.12072	T	0.956	0.54666	P	0.899	0.63802	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.30687	.	.	.	.	.	.	.	0.24396187	0.41619	T	0.040312	0.59308	D	.	.	.	.	0.123314135267	0.11883	0.6099147785040652	0.60923	0.775270139995	0.64992	0.68753862381	0.65352	T	0.020958	0.16408	T	-0.0227359	0.48463	T	-0.270435	0.47775	T	.	.	.	0.951205	0.81406	D	0.19472462	0.41234	0.49195397	0.70612	0.19472462	0.41234	0.49195397	0.70612	-2.983	0.09999	T	.	.	0.270	0.59279	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.682992	0.52433	23.2	0.92234412860899107	0.21611	0.96085	0.67464	D	AEFBCI	0.823216	0.74337	D	.	.	.	.	.	.	0.999999999999878	0.74766	0.295142	0.05270	0	0.278934	0.05175	0	0.320204	0.05785	0	0.322829	0.05601	0	.	.	5.65	5.65	0.86881	6.199000	0.72039	7.919000	0.74425	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.934	0.79476	868	0.31772	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1585.98	36	chr8	63186720	.	T	A	1585.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.712e+00;DP=822;ExcessHet=0.0000;FS=2.252;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=0.251;SOR=0.817	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,100,1331	20	0	1	0
chr8	64581466	64581466	-	GCA	exonic	BHLHE22	.	nonframeshift insertion	BHLHE22:NM_152414:exon1:c.676_677insGCA:p.S234_K235insS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	7512.79	45	chr8	64581463	.	GGCA	GGCAGCA,G	7512.79	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=-4.290e-01;DP=1093;ExcessHet=0.5418;FS=1.794;InbreedingCoeff=0.0735;MLEAC=6,1;MLEAF=0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=16.48;ReadPosRankSum=0.762;SOR=0.827	GT:AD:DP:GQ:PL	0/0:34,0,0:34:99:0,102,1066,102,1066,1066	14	1	5	0
chr8	64581464	64581466	GCA	-	exonic	BHLHE22	.	nonframeshift deletion	BHLHE22:NM_152414:exon1:c.674_676del:p.S234del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0196	.	0.0185	0.0275	0.0401	0.0357	0.0021	0.0202	0.0070	0.0168	0.0001537	4	26028	rs779312881	0.0007	0.0059	0.0007	0.0008	0.0023	0.0007	0.0007	0.0020	0.0019	0.0014	0.0011	0.0004	0.0014	0.0013	0.0010	0.0005	0.0008	0.0023	0.0005	0.0006	0.0005	0.0005	0.0011	0.0004	0.0004	0.0007	0.0005	0.0004	0	0.0011	0	0	0.0006	0.0040	0.0004	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	7512.79	45	chr8	64581463	.	GGCA	GGCAGCA,G	7512.79	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=-4.290e-01;DP=1093;ExcessHet=0.5418;FS=1.794;InbreedingCoeff=0.0735;MLEAC=6,1;MLEAF=0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=16.48;ReadPosRankSum=0.762;SOR=0.827	GT:AD:DP:GQ:PL	0/0:34,0,0:34:99:0,102,1066,102,1066,1066	14	1	5	0
chr8	64604767	64604767	C	T	exonic	CYP7B1	.	nonsynonymous SNV	CYP7B1:NM_001324112:exon5:c.G1148A:p.G383E	Bile acid synthesis defect, congenital, 3, Autosomal recessive;Spastic paraplegia 5A, autosomal recessive, Autosomal recessive	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.167	B	0.199	B	0.776	N	1.000	N	2.045	M	-2.11	D	-0.471	T	0.575	D	0.097	1.244	10.05	-1.91	-0.380	-0.285	9.606	0.238	0.164036028275	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	0.19639	T	0.135	0.34124	T	0.167	0.28604	B	0.199	0.36804	B	0.775725	0.06624	N	1.089970	1	0.08975	N	0.895	0.22405	L	-2.11	0.86216	D	-0.3	0.11913	N	0.133	0.12913	-0.4711	0.69686	T	0.575	0.84680	D	10	0.18884072	0.34457	T	0.164036	0.84324	D	0.238	0.54217	0.581	0.70733	0.794756903773	0.79284	0.48661002383132596	0.48581	0.160446265012	0.18105	0.25007635355	0.03775	T	0.229221	0.59499	T	-0.160854	0.26629	T	-0.468832	0.25641	T	0.141301248517526	0.16387	T	0.553245	0.19112	T	0.041421745	0.06096	0.06605739	0.13475	0.041421745	0.06096	0.06605739	0.13475	-5.712	0.43800	T	.	.	0.100	0.17189	B	.	.	-0.470747	0.01962	0.169	0.65610116103570171	0.07821	0.03362	0.08454	N	AEFBI	0.097950	0.19746	N	-1.0050070526602	0.08499	0.3987396	-1.10126308278895	0.07676	0.3743341	0.0350226043616279	0.14181	0.554377	0.28877	0	0.601575	0.49859	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.17	-1.91	0.07225	-0.521000	0.06331	-1.105000	0.06316	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1009:0.272:0.0:0.6271	9.606	0.38797	750	0.51762	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1437.98	35	chr8	64604767	.	C	T	1437.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.497;DP=808;ExcessHet=0.0000;FS=1.537;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=-1.118e+00;SOR=0.920	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1245	20	0	1	0
chr8	64615784	64615784	T	C	exonic	CYP7B1	.	nonsynonymous SNV	CYP7B1:NM_001324112:exon3:c.A757G:p.K253E	Bile acid synthesis defect, congenital, 3, Autosomal recessive;Spastic paraplegia 5A, autosomal recessive, Autosomal recessive	.	1	1519	2	0	0	2	0.000657895	.	.	899943	Inborn_genetic_diseases|Spastic_paraplegia|Hereditary_spastic_paraplegia_5A|not_provided	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MONDO:MONDO:0010047,MedGen:C1849115,OMIM:270800,Orphanet:100986|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.67	T	0.0	B	0.009	B	0.820	N	1.000	N	1.055	L	-1.91	D	-0.813	T	0.386	T	0.1	-0.937	0.365	2.1	0.427	1.621	9.297	0.149	0.0476759423704	.	.	6.593e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs200328073	8.211e-05	8.209e-05	8.033e-05	8.39e-05	5.041e-05	7.003e-05	6.554e-05	1.663e-05	1.425e-05	0	0	0.0030	5.041e-05	0	0	2.429e-05	0.0002	0	9.199e-05	9.193e-05	5.139e-05	0.0001	2.94e-05	5.528e-05	4.365e-05	4.88e-06	1.83e-06	0	0	0	0.0035	0	0	0	2.94e-05	0	0	0.239	0.17761	T	0.901	0.03039	T	0.0	0.02946	B	0.009	0.14300	B	0.819901	0.09186	N	0.934500	1	0.08975	N	0.515	0.13537	N	-1.91	0.84701	D	-0.55	0.16799	N	0.161	0.16864	-0.8128	0.54380	T	0.386	0.74157	T	10	0.017489403	0.00374	T	0.047676	0.63029	D	0.149	0.39377	0.463	0.53242	0.831939011567	0.83034	0.4893566704260673	0.48855	0.109330788207	0.12331	0.279992610216	0.07491	T	0.15344	0.49429	T	-0.244017	0.14841	T	-0.419162	0.31172	T	0.0415310950387887	0.03969	T	0.244976	0.03588	T	0.083230615	0.19210	0.08240401	0.18804	0.083230615	0.19209	0.08240401	0.18803	-4.79	0.34475	T	0.3121808715376566	0.41009	0.127	0.27131	B	.	.	1.756880	0.22349	15.58	0.85361785411301894	0.15845	0.50206	0.28609	D	AEFI	0.166334	0.29291	N	-0.744160474871161	0.14792	0.739904	-0.675094733141806	0.17585	0.9356728	1.62836631306364E-4	0.05721	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.63	2.1	0.26226	1.681000	0.37234	2.224000	0.31475	0.665000	0.62972	0.817000	0.29947	0.994000	0.32194	0.642000	0.32476	0.0:0.0706:0.2909:0.6385	9.297	0.36983	770	0.49152	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	7876.98	39	chr8	64615784	.	T	C	7876.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.432e+00;DP=1385;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=-1.080e+00;SOR=0.679	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1437	20	0	1	0
chr8	64616168	64616168	T	C	exonic	CYP7B1	.	nonsynonymous SNV	CYP7B1:NM_001324112:exon3:c.A373G:p.I125V	Bile acid synthesis defect, congenital, 3, Autosomal recessive;Spastic paraplegia 5A, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	B	0.036	B	0.009	N	1.000	N	0.14	N	-0.29	T	-1.033	T	0.104	T	0.049	-1.380	0.025	-0.711	-0.203	0.122	6.315	0.042	0.0284247650802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.84e-07	0	1.376e-06	2.991e-05	0	0	.	.	2.991e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.597	0.08025	T	0.044	0.21686	B	0.036	0.22909	B	0.008998	0.30568	N	0.397376	1	0.08975	N	0.515	0.13537	N	-0.29	0.67712	T	-0.28	0.11547	N	0.093	0.07262	-1.0331	0.19459	T	0.104	0.38316	T	9	0.06366226	0.08326	T	0.028425	0.51105	D	0.042	0.11227	0.586	0.71371	0.328752806141	0.32485	0.3100335922352077	0.30916	0.0663275487588	0.07396	0.341369271278	0.16643	T	0.105767	0.41653	T	-0.272458	0.11484	T	-0.629143	0.10480	T	0.0882415920495987	0.11007	T	0.311769	0.06085	T	0.0172313	0.00256	0.023817467	0.00395	0.0172313	0.00256	0.023817467	0.00395	-3.276	0.13429	T	0.2880057968352209	0.38423	0.085	0.10256	B	.	.	-0.873906	0.00970	0.038	0.25718248715531067	0.01199	0.11437	0.16633	N	AEFI	0.114720	0.22585	N	-1.2627606614016	0.04133	0.1859895	-1.28292284823881	0.04661	0.2203774	1.47470182086323E-4	0.05573	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.54	-0.711	0.10664	0.137000	0.15816	-0.410000	0.09352	-0.793000	0.03229	0.005000	0.17040	0.000000	0.08366	0.000000	0.00833	0.0:0.1778:0.1292:0.6929	6.315	0.20393	770	0.49152	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	5921.98	39	chr8	64616168	.	T	C	5921.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.690e+00;DP=1269;ExcessHet=0.0000;FS=2.472;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=-1.421e+00;SOR=0.541	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1437	20	0	1	0
chr8	66177323	66177323	-	GCG	exonic	CRH	.	nonframeshift insertion	CRH:NM_000756:exon2:c.154_155insCGC:p.P51_Q52insP,	.	.	1	1512	9	0	0	9	0.00296736	.	.	579503	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.00359425	0.0021	0	0	0.0363	0	0.0010	0	0.0009	0.0001153	3	26028	rs562792458	0.0012	0.0012	0.0012	0.0012	0.0373	0.0011	0.0011	0.0356	0.0350	0	2.654e-05	0.0013	0.0373	2.499e-05	0.0012	0.0001	0.0011	0.0009	0.0011	0.0011	0.0009	0.0012	0.0262	0.0009	0.0009	0.0226	0.0212	2.405e-05	0	6.533e-05	0.0012	0.0262	0	0	0.0002	0.0005	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1199.94	41	chr8	66177323	.	T	TGCG	1199.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.620e-01;DP=824;ExcessHet=0.0000;FS=2.182;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.00;ReadPosRankSum=-7.400e-02;SOR=1.001	GT:AD:DP:GQ:PL	0/1:29,31:60:99:1214,0,1117	20	0	1	0
chr8	66432532	66432532	C	T	exonic	ADHFE1	.	stopgain	ADHFE1:NM_144650:exon1:c.C16T:p.R6X,	.	.	306	1213	3	0	0	3	0.00123508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.005	U	1.000	A	.	.	.	.	.	.	.	.	.	2.992	15.98	3.05	0.822	0.800	12.180	.	.	0.0002	0.000199681	0.0018	0	0	0	0	0.0029	0	0.0013	0.0001552	24	154602	rs200439070	0.0003	0.0003	0.0003	0.0003	0.0017	0.0003	0.0003	0.0008	0.0006	3.972e-05	0.0005	0.0004	0	5.118e-05	0.0017	0.0004	0.0004	0.0001	0.0003	0.0003	0.0004	0.0003	0.0007	0.0003	0.0002	0.0004	0.0003	7.215e-05	0	0.0007	0.0003	0	9.411e-05	0.0034	0.0005	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	0.004944	0.33236	U	0.187954	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.084	0.06059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112881	0.65649	D	0.246335	0.85450	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.749737	0.95681	35	0.99251712194367481	0.56891	0.16235	0.19294	N	ALL	0.097007	0.19574	N	0.0426444462480635	0.43806	2.666315	-0.295428666787557	0.28248	1.573546	0.999999999999955	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.01	3.05	0.34272	0.906000	0.28140	0.897000	0.22519	0.524000	0.24156	0.158000	0.23769	0.552000	0.25473	0.004000	0.06068	0.2171:0.7829:0.0:0.0	12.180	0.53511	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1072.98	39	chr8	66432532	.	C	T	1072.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.735;DP=802;ExcessHet=0.0000;FS=1.748;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=-2.216e+00;SOR=0.491	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1038	20	0	1	0
chr8	66493691	66493691	G	C	exonic	VXN	.	nonsynonymous SNV	VXN:NM_152765:exon1:c.G43C:p.V15L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.994	D	0.000	D	0.999	D	1.1	L	.	.	-0.632	T	0.303	T	0.823	4.580	24.9	5.98	2.835	6.699	18.639	0.219	0.00547327237093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.979e-06	0.0002	9.631e-06	8.323e-06	1.164e-05	5.01e-06	3.86e-06	5.37e-06	3.92e-06	0	0	0	0	0	0	1e-05	1.668e-05	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.116	0.92824	T	0.996	0.90584	D	0.99	0.82059	D	0.000007	0.62929	D	0.000000	0.99932	0.46670	D	.	.	.	.	.	.	-2.35	0.57762	N	0.725	0.82964	-0.6318	0.63494	T	0.303	0.67409	T	9	0.5419149	0.63768	D	0.005473	0.14075	T	0.219	0.51417	0.234	0.16305	0.658285377725	0.65543	0.48710170484580395	0.48630	1.31309391701	0.83265	.	.	.	0.114249	0.49642	T	0.245393	0.78169	D	0.114713	0.77885	D	0.835849516035111	0.48992	D	0.837516	0.52137	T	0.58112	0.71669	0.61174595	0.77411	0.58112	0.71670	0.61174595	0.77412	-3.202	0.12505	T	.	.	0.979	0.91928	P	.;.;.;.	.;.;.;.	4.230900	0.64072	24.7	0.99840759444709359	0.92143	0.98639	0.85009	D	AEFGBHI	0.812472	0.73519	D	0.712960435504671	0.80482	7.303924	0.757067553857114	0.86685	8.968818	0.999999999869192	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.98	5.98	0.97147	6.429000	0.73312	11.673000	0.94126	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.639	0.91344	632	0.64850	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1316	133.13	53	chr8	66493691	.	G	C	133.13	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.170e+00;DP=1181;ExcessHet=1.1607;FS=144.686;InbreedingCoeff=-0.1900;MLEAC=5;MLEAF=0.132;MQ=59.63;MQRankSum=0.00;QD=0.42;ReadPosRankSum=1.07;SOR=10.685	GT:AD:DP:GQ:PL	0/0:50,0:50:16:0,16,852	14	0	5	2
chr8	66665242	66665242	C	T	exonic	VCPIP1	.	nonsynonymous SNV	VCPIP1:NM_025054:exon1:c.G1717A:p.G573S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.989	D	0.868	P	0.000	D	1.000	D	1.355	L	1.51	T	-1.028	T	0.138	T	0.651	3.745	19.02	5.3	2.627	7.744	19.323	0.206	0.0203633802704	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1374460269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.24183	T	0.244	0.24123	T	0.989	0.62824	D	0.868	0.61700	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.955	0.52871	M	1.51	0.30937	T	-0.42	0.14193	N	0.742	0.74189	-1.0285	0.20940	T	0.138	0.45508	T	10	0.5966282	0.66678	D	0.020363	0.42939	T	0.206	0.49396	0.499	0.58991	0.102598925029	0.09809	0.7004349829113856	0.69984	1.1523092919	0.79246	0.802717030048	0.82377	T	0.030759	0.21729	T	0.00178112	0.51899	T	-0.235218	0.51265	T	0.937988042831421	0.60822	D	0.946005	0.79398	D	0.21131225	0.43453	0.25939173	0.51687	0.21131225	0.43452	0.25939173	0.51686	-1.746	0.02353	T	.	.	0.296	0.52655	B	.	.	4.211397	0.63633	24.6	0.99654049544999979	0.77505	0.99135	0.91741	D	AEFDBCI	0.915304	0.87989	D	0.684371633839212	0.78609	6.906095	0.709175581784786	0.83074	7.927616	1.0	0.98316	0.608746	0.35421	0	0.516746	0.08562	0	0.731467	0.93227	0	0.536845	0.12434	2	.	.	5.3	5.3	0.74745	7.811000	0.84631	7.734000	0.67822	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.323	0.94239	653	0.62661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2658.98	34	chr8	66665242	.	C	T	2658.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=903;ExcessHet=0.0000;FS=3.939;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.85;ReadPosRankSum=-9.480e-01;SOR=0.800	GT:AD:DP:GQ:PL	0/1:111,96:207:99:2673,0,2954	20	0	1	0
chr8	66835779	66835779	G	A	exonic	C8orf44-SGK3;SGK3	.	nonsynonymous SNV	SGK3:NM_001033578:exon9:c.G542A:p.R181Q	.	.	.	.	.	.	.	.	.	.	.	3321624	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.539	P	0.23	B	0.001	D	0.925	D	0.18	N	-0.15	T	-0.742	T	0.136	T	0.368	3.154	16.55	4.76	1.393	4.912	14.585	0.060	0.0106774098913	.	.	1.665e-05	0	0	0	0	3.022e-05	0	0	1.29e-05	2	154602	rs764236858	1.233e-05	1.231e-05	1.363e-05	1.102e-05	1.53e-05	7.71e-06	6.36e-06	9.32e-06	7.62e-06	0	0	0	0	0	0	1.53e-05	0	1.171e-05	1.315e-05	1.314e-05	1.285e-05	1.347e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.044	0.46129	D	0.181	0.30339	T	0.539	0.37887	P	0.23	0.38212	B	0.000709	0.42254	D	0.230542	.	.	.	1.045	0.26769	L	-0.15	0.65192	T	-0.94	0.27876	N	0.518	0.55540	-0.7415	0.58376	T	0.136	0.45222	T	9	0.2206997	0.38774	T	0.010677	0.27493	T	0.060	0.17295	0.441	0.49648	0.517158968016	0.51359	0.5787332730474167	0.57802	0.790129032098	0.65741	0.748882055283	0.74282	T	0.201661	0.55960	T	-0.0670317	0.41799	T	-0.270417	0.47777	T	0.464323962436283	0.31323	T	0.971103	0.90777	D	0.26384938	0.49450	0.15032123	0.35457	0.26384938	0.49450	0.15032123	0.35456	-9.642	0.71740	D	.	.	0.140	0.43815	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.704423	0.93134	33	0.99701134273079173	0.80660	0.94253	0.60581	D	AEFIJ	0.553853	0.56494	D	0.0314810974492419	0.43292	2.62496	0.19151166970117	0.49381	3.141955	0.985339893797825	0.30869	0.638212	0.43195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.63	4.76	0.60189	5.023000	0.63858	9.962000	0.82803	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0704:0.0:0.9296:0.0	14.585	0.67912	746	0.52331	Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain|Serine/threonine-protein kinase Sgk3, catalytic domain;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain|Serine/threonine-protein kinase Sgk3, catalytic domain;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain|Serine/threonine-protein kinase Sgk3, catalytic domain;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain|Serine/threonine-protein kinase Sgk3, catalytic domain;.;.;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain|Serine/threonine-protein kinase Sgk3, catalytic domain;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain;Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	674.98	36	chr8	66835779	.	G	A	674.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.869e+00;DP=750;ExcessHet=0.0000;FS=1.049;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=0.467;SOR=0.474	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,964	20	0	1	0
chr8	67105905	67105905	T	G	exonic	CSPP1	.	nonsynonymous SNV	CSPP1:NM_001291339:exon6:c.T168G:p.S56R	Joubert syndrome 21, Autosomal recessive	.	430	1091	1	0	0	1	0.000458085	0.0001	0.152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.972	D	0.563	P	0.006	N	1.000	N	0.69	N	1.54	T	-0.796	T	0.214	T	0.191	2.665	14.87	-2.79	-0.240	-0.074	1.212	0.069	0.0273802146661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.917	0.39799	T	0.942	0.57405	P	0.563	0.49647	P	0.006314	0.32122	N	0.272597	1	0.08975	N	.	.	.	-1.08	0.77078	T	-0.69	0.20145	N	0.321	0.36148	-0.7964	0.55356	T	0.214	0.57468	T	9	0.15428585	0.29105	T	0.02738	0.50196	D	0.069	0.20116	.	.	0.394384168047	0.39052	0.09017730564918405	0.08950	0.140679475827	0.15870	0.39053183794	0.23745	T	.	.	.	-0.0992519	0.36549	T	-0.380345	0.35682	T	0.321059554815292	0.25865	T	0.70353	0.31362	T	.	.	.	.	.	.	.	.	-3.864	0.21764	T	.	.	0.269	0.50352	B	.;.	.;.	0.841514	0.12131	8.683	0.9817436409206044	0.38890	0.02804	0.07527	N	AEFBI	0.052678	0.09426	N	-0.835364276564482	0.12413	0.6049091	-0.962412582701977	0.10636	0.5369504	0.744447307038152	0.23263	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.59	-2.79	0.05494	-0.045000	0.11957	.	.	-0.191000	0.09375	0.085000	0.22462	0.000000	0.08366	0.031000	0.13245	0.1416:0.2187:0.1455:0.4942	1.212	0.01792	429	0.80881	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	773.98	34	chr8	67105905	.	T	G	773.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.335e+00;DP=769;ExcessHet=0.0000;FS=1.905;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.92;ReadPosRankSum=1.20;SOR=0.463	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1098	20	0	1	0
chr8	67105925	67105925	C	A	exonic	CSPP1	.	nonsynonymous SNV	CSPP1:NM_001291339:exon6:c.C188A:p.S63Y	Joubert syndrome 21, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	955489	Inborn_genetic_diseases|Joubert_syndrome_21	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014288,MedGen:C3810212,OMIM:615636	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.993	D	0.769	P	0.009	N	0.886	N	1.7	L	1.17	T	-0.365	T	0.442	T	0.461	1.196	9.862	3.7	1.162	0.680	8.331	0.126	0.0502879920634	8.5e-05	.	0.0002	0	0	0	0	0.0003	0.0011	6.098e-05	0.0001552	24	154602	rs374330054	0.0001	0.0001	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0	0	0	0.0002	0.0002	0.0004	0.0001	0.0002	5.839e-05	8.54e-05	8.531e-05	6.426e-05	0.0001	0.0006	4.956e-05	3.962e-05	0.0002	8.394e-05	0	0	0	0	0.0006	9.441e-05	0	0.0001	0	0	0.005	0.63226	D	0.015	0.61642	D	0.988	0.62325	D	0.686	0.53639	P	0.009396	0.30383	N	0.220953	0.886374	0.27960	N	.	.	.	-1.01	0.76168	T	-1.86	0.44094	N	0.22	0.24634	-0.3651	0.73111	T	0.442	0.77983	T	10	0.19296706	0.35047	T	0.050288	0.64177	D	0.126	0.34673	.	.	0.771920703749	0.76982	0.08584602611874989	0.08518	0.350896183506	0.36930	0.357957482338	0.19088	T	.	.	.	-0.210356	0.19329	T	-0.241001	0.50701	T	0.0557082872608414	0.06476	T	0.753825	0.37593	T	.	.	.	.	.	.	.	.	-6.024	0.46480	T	.	.	0.120	0.24934	B	.;.	.;.	2.184669	0.27852	17.60	0.98241511295877826	0.39485	0.70589	0.34653	D	AEFBI	0.088612	0.17964	N	0.0755084647669884	0.45323	2.790671	0.00837378480600887	0.40103	2.388016	0.949140834823175	0.27833	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.59	3.7	0.41607	0.731000	0.25726	.	.	0.545000	0.25583	0.996000	0.39380	0.991000	0.31484	0.006000	0.07323	0.0:0.8922:0.0:0.1078	8.331	0.31348	429	0.80881	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	613.98	34	chr8	67105925	.	C	A	613.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.832e+00;DP=769;ExcessHet=0.0000;FS=1.888;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.87;ReadPosRankSum=-1.224e+00;SOR=0.573	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1098	20	0	1	0
chr8	67267197	67267197	T	G	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon12:c.A1706C:p.Y569S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.805	H	-0.78	T	0.687	D	0.706	D	0.982	4.416	23.4	5.64	2.151	7.963	15.858	0.899	0.237962970762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.72	0.94773	H	-0.78	0.73631	T	-8.35	0.97055	D	0.942	0.94904	0.687	0.93008	D	0.706	0.89885	D	10	0.9347031	0.92803	D	0.237963	0.88567	D	0.899	0.97173	0.765	0.89293	0.928413877143	0.92768	0.9410339865550086	0.94084	2.66344963391	0.98472	0.923793792725	0.98598	D	0.579556	0.86210	D	0.426857	0.91374	D	0.375374	0.91268	D	0.999809205532074	0.99090	D	0.999009	0.99481	D	0.95048153	0.96314	0.9252946	0.96768	0.95048153	0.96314	0.9252946	0.96769	-14.428	0.94364	D	.	.	0.997	0.96728	P	.	.	4.199179	0.63353	24.6	0.9915802266271444	0.54015	0.99263	0.93634	D	AEFBIJ	0.859364	0.77703	D	0.987119455993339	0.95336	13.52262	0.906983321677204	0.95869	14.05404	0.999999722328493	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.64	5.64	0.86480	7.941000	0.87167	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.858	0.78774	515	0.74782	Guanine nucleotide exchange factor, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	48.98	39	chr8	67267197	.	T	G	48.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.192e+00;DP=1079;ExcessHet=0.0000;FS=62.817;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.48;ReadPosRankSum=3.01;SOR=5.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,120,1800	20	0	1	0
chr8	67267206	67267206	T	G	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon12:c.A1697C:p.Y566S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.58	H	-0.14	T	0.359	D	0.556	D	0.978	4.406	23.3	5.64	2.151	7.963	15.858	0.827	0.185111105236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.615	0.93875	H	-0.14	0.65006	T	-8.21	0.96839	D	0.903	0.90363	0.359	0.88479	D	0.556	0.83808	D	10	0.9076985	0.90135	D	0.185111	0.85792	D	0.827	0.94503	0.744	0.87570	0.87037615458	0.86911	0.9092638382302259	0.90900	2.66344963391	0.98472	0.932812094688	0.99139	D	0.543141	0.84394	D	0.399337	0.89876	D	0.335844	0.89748	D	0.999809205532074	0.99090	D	0.994967	0.98297	D	0.9542225	0.96695	0.9234184	0.96638	0.9542225	0.96696	0.9234184	0.96638	-14.814	0.95401	D	.	.	0.994	0.95244	P	.	.	4.277610	0.65129	24.8	0.99153331616312945	0.53875	0.99263	0.93634	D	AEBI	0.859364	0.77703	D	0.963041333664288	0.94489	12.79763	0.891701606307143	0.95200	13.402	0.999999722328493	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.64	5.64	0.86480	7.941000	0.87167	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.858	0.78774	515	0.74782	Guanine nucleotide exchange factor, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1818	460.15	39	chr8	67267206	.	T	G	460.15	.	AC=4;AF=0.182;AN=22;BaseQRankSum=-2.883e+00;DP=1743;ExcessHet=0.6776;FS=182.454;InbreedingCoeff=-0.2727;MLEAC=6;MLEAF=0.273;MQ=60.00;MQRankSum=0.00;QD=1.02;ReadPosRankSum=2.03;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:86,16:102:50:.:.:0,50,1475	7	0	4	10
chr8	67288041	67288041	T	C	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon7:c.A941G:p.Y314C,	.	.	479	1038	3	2	0	7	0.00336054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.0	B	0.0	B	0.246	N	1.000	D	1.1	L	2.13	T	-1.092	T	0.002	T	0.29	1.688	11.60	4.2	0.946	3.307	11.676	0.077	.	0.0007	0.0241613	0.0123	0.0007	0.0376	0.1120	0.0003	0.0003	0.0078	0.0031	0.0114035	1763	154602	rs76811394	0.0042	0.0043	0.0044	0.0040	0.1022	0.0041	0.0041	0.0996	0.0985	0.0005	0.0277	3.889e-05	0.1022	0.0011	0.0009	0.0002	0.0061	0.0032	0.0055	0.0056	0.0049	0.0063	0.1019	0.0052	0.0051	0.0947	0.0919	0.0010	0	0.0131	0	0.1019	0.0011	0	0.0004	0.0061	0.0052	0.178	0.22138	T	0.183	0.29153	T	0.0	0.02946	B	0.0	0.01387	B	0.246133	0.15607	N	0.639663	0.711467	0.33523	D	0.895	0.22405	L	2.13	0.19588	T	0.09	0.05917	N	0.105	0.08925	-1.0922	0.05175	T	0.002	0.00497	T	10	0.0021713376	0.00031	T	.	.	.	0.077	0.22490	.	.	.	.	0.1972633484220722	0.19643	0.445717174749	0.44459	0.608375430107	0.54086	T	0.094523	0.39434	T	-0.559103	0.00257	T	-0.489036	0.23493	T	0.00835954930862052	0.00101	T	0.737926	0.35508	T	0.06564336	0.14048	0.051582094	0.08329	0.06564336	0.14048	0.051582094	0.08328	-2.36	0.04894	T	.	.	0.058	0.00614	B	.	.	2.612709	0.33937	19.49	0.97194579099039913	0.32779	0.92158	0.55074	D	AEBI	0.431429	0.49372	N	-0.249985751337175	0.31103	1.740783	-0.0980935924300736	0.35470	2.052438	0.809555116605096	0.24331	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.39	4.2	0.48814	3.368000	0.52084	.	.	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.904000	0.43992	0.0:0.0707:0.0:0.9293	11.676	0.50692	481	0.77356	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1348.98	41	chr8	67288041	.	T	C	1348.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=797;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.91;ReadPosRankSum=-6.890e-01;SOR=0.704	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1216	20	0	1	0
chr8	67299229	67299229	C	T	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon4:c.G439A:p.V147I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.998	D	0.995	D	0.000	D	1.000	D	1.315	L	1.82	T	-1.059	T	0.129	T	0.464	5.167	32	5.15	2.555	7.776	19.003	0.244	0.00485664365008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.144	0.33109	T	0.998	0.73220	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999944	0.51968	D	1.42	0.35681	L	1.82	0.25018	T	-0.83	0.22727	N	0.47	0.50598	-1.0588	0.12058	T	0.129	0.43867	T	10	0.44255733	0.58194	T	0.004857	0.12192	T	0.244	0.55061	0.419	0.46036	0.344740032716	0.34089	0.46458263451071363	0.46377	0.432702769526	0.43444	0.796535730362	0.81436	T	0.173112	0.52185	T	-0.0537433	0.43877	T	-0.314975	0.43122	T	0.922568202018738	0.58277	D	0.989121	0.96387	D	0.31868398	0.54528	0.16852483	0.38818	0.31868398	0.54528	0.16852483	0.38817	-7.853	0.60064	D	.	.	0.089	0.12276	B	.	.	4.127652	0.61742	24.4	0.99858364901069363	0.93729	0.99671	0.98530	D	AEFBI	0.844558	0.76151	D	0.691477747293272	0.79072	7.001596	0.703445623715783	0.82640	7.817407	0.999999999999729	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.15	5.15	0.70287	7.905000	0.86479	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.003	0.92819	440	0.80101	Mon2, dimerisation and cyclophilin-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.125	64.79	34	chr8	67299229	.	C	T	64.79	.	AC=4;AF=0.125;AN=32;BaseQRankSum=-1.020e+00;DP=397;ExcessHet=0.8031;FS=237.740;InbreedingCoeff=-0.1202;MLEAC=4;MLEAF=0.125;MQ=60.00;MQRankSum=0.00;QD=1.06;ReadPosRankSum=-4.370e-01;SOR=8.497	GT:AD:DP:GQ:PL	0/0:12,3:15:12:0,12,179	12	0	4	5
chr8	67343244	67343244	G	A	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon1:c.C44T:p.A15V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.757	P	0.342	B	0.000	D	1.000	D	3.07	M	1.48	T	-0.652	T	0.143	T	0.716	5.108	32	4.63	2.091	9.256	17.496	0.375	0.249575470934	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1347297540	6.842e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.003	0.76473	D	0.757	0.43436	P	0.342	0.42471	B	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	2.805	0.81760	M	1.48	0.31731	T	-3.28	0.69714	D	0.676	0.68342	-0.6525	0.62605	T	0.143	0.46550	T	10	0.6328269	0.68615	D	0.249575	0.89056	D	0.375	0.69358	0.346	0.34112	0.506211326956	0.50260	0.7307356103775541	0.73018	0.623551032226	0.56587	0.884203970432	0.94519	D	0.570324	0.85762	D	0.102745	0.64587	D	-0.0901897	0.64147	T	0.991640567779541	0.81968	D	0.977702	0.93682	D	0.85335016	0.87584	0.8306317	0.90226	0.85335016	0.87585	0.8306317	0.90226	-8.618	0.65208	D	.	.	0.989	0.93416	P	.;.	.;.	4.711470	0.75700	26.4	0.99931130804971524	0.99387	0.95036	0.63205	D	ALL	0.886882	0.81867	D	0.645174795168783	0.76056	6.416742	0.642146414279594	0.78026	6.794283	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.63	4.63	0.57175	9.439000	0.96737	.	.	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.496	0.87612	447	0.79583	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1502.98	36	chr8	67343244	.	G	A	1502.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.210e-01;DP=880;ExcessHet=0.0000;FS=1.274;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.51;ReadPosRankSum=0.468;SOR=0.560	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1148	20	0	1	0
chr8	67483807	67483807	C	T	exonic	CPA6	.	nonsynonymous SNV	CPA6:NM_020361:exon8:c.G799A:p.G267R,	Epilepsy, familial temporal lobe, 5, Autosomal dominant;Febrile seizures, familial, 11, Autosomal recessive	YES	0	1521	1	0	0	1	0.000328623	.	.	265506	Familial_temporal_lobe_epilepsy_5|Febrile_seizures,_familial,_11|Global_developmental_delay|CPA6-related_disorder|not_provided|Confusion|Focal-onset_seizure|Palpitations|Irregular_menstruation|Abnormal_emotional_state|Periventricular_heterotopia|Seizure|Childhood_epilepsy_with_centrotemporal_spikes	MONDO:MONDO:0013741,MedGen:C3280730,OMIM:614417|MONDO:MONDO:0024566,MedGen:C3280734,OMIM:614418|Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874|.|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000731,Human_Phenotype_Ontology:HP:0001289,MedGen:C0009676|Human_Phenotype_Ontology:HP:0002358,Human_Phenotype_Ontology:HP:0007359,MedGen:C0751495|Human_Phenotype_Ontology:HP:0001962,MedGen:C0030252|Human_Phenotype_Ontology:HP:0000858,MedGen:C0156404|Human_Phenotype_Ontology:HP:0100851,MedGen:C4020949|Human_Phenotype_Ontology:HP:0002272,Human_Phenotype_Ontology:HP:0007165,MedGen:C5399973|Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572|MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.22	H	1.97	T	0.432	D	0.533	D	0.988	5.016	29.6	5.18	2.567	7.071	17.836	0.725	0.252068408815	0.0032	0.00139776	0.0021	0.0038	0.0018	0	0.0002	0.0028	0.0066	0.0001	0.0021086	326	154602	rs61738009	0.0029	0.0029	0.0030	0.0028	0.0034	0.0028	0.0028	0.0033	0.0033	0.0033	0.0025	0	0	0.0002	0.0033	0.0034	0.0028	0.0002	0.0025	0.0025	0.0028	0.0022	0.0032	0.0023	0.0022	0.0028	0.0027	0.0032	0	0.0014	0	0.0002	9.414e-05	0	0.0031	0.0047	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.053233	1	0.81001	D	4.055	0.97073	H	0.59	0.53943	T	-7.56	0.95216	D	0.993	0.99863	0.432	0.89566	D	0.533	0.82704	D	10	0.13679942	0.26025	T	0.252068	0.89157	D	0.725	0.90324	0.878	0.96734	0.861870208621	0.86053	0.960238203642367	0.96009	0.25006603729	0.27585	0.679282546043	0.64166	T	0.205276	0.56428	T	0.023973	0.54916	T	0.260186	0.86099	D	0.162356426692107	0.18043	T	0.931907	0.74605	D	0.94777673	0.96039	0.95916945	0.98926	0.94777673	0.96040	0.95916945	0.98927	-13.193	0.90141	D	0.8711783554657455	0.93183	0.987	0.92633	P	.	.	5.286792	0.88766	29.7	0.99936485934862673	0.99621	0.96562	0.69761	D	AEFBI	0.874928	0.79807	D	1.0291666116735	0.96572	14.86257	0.91802455739627	0.96310	14.54442	0.999999600216836	0.74766	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.18	5.18	0.71140	7.472000	0.79998	.	.	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	17.836	0.88608	69	0.97055	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase A6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1558.98	35	chr8	67483807	.	C	T	1558.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.904e+00;DP=831;ExcessHet=0.0000;FS=0.609;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.46;ReadPosRankSum=0.164;SOR=0.798	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr8	67506878	67506878	C	T	exonic	CPA6	.	nonsynonymous SNV	CPA6:NM_020361:exon6:c.G545A:p.R182Q,	Epilepsy, familial temporal lobe, 5, Autosomal dominant;Febrile seizures, familial, 11, Autosomal recessive	YES	0	1521	1	0	0	1	0.000328623	.	.	1358728	not_provided|Febrile_seizures,_familial,_11	MedGen:C3661900|MONDO:MONDO:0024566,MedGen:C3280734,OMIM:614418	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.26	T	0.994	D	0.653	P	0.012	N	0.987	D	0.585	N	3.99	T	-1.116	T	0.065	T	0.333	2.392	13.96	4.06	0.835	1.764	11.046	0.041	0.0115165739181	.	.	1.653e-05	0	0	0	0	1.502e-05	0	6.069e-05	1.29e-05	2	154602	rs765453517	1.301e-05	1.368e-05	1.09e-05	1.514e-05	3.48e-05	8.32e-06	6.71e-06	9.24e-06	5.03e-06	2.992e-05	0	3.831e-05	0	0	0	1.17e-05	1.657e-05	3.48e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	0.18	0.21968	T	0.529	0.10138	T	0.827	0.45966	P	0.243	0.38752	B	0.011585	0.29474	N	0.349450	0.987217	0.40554	D	0.605	0.15622	N	1.57	0.29342	T	0.14	0.05405	N	0.442	0.48042	-1.1162	0.02587	T	0.065	0.26983	T	10	0.15828928	0.29770	T	0.011517	0.29227	T	0.041	0.10877	0.394	0.41935	0.319402600006	0.31557	0.7036808845895597	0.70309	0.128929971286	0.14537	0.363084614277	0.19835	T	0.003963	0.03373	T	-0.317158	0.07132	T	-0.490698	0.23318	T	0.748839914798737	0.43221	D	0.89931	0.64723	D	0.07982647	0.18259	0.07528672	0.16560	0.07982647	0.18259	0.07528672	0.16560	-5.595	0.42746	T	0.2348830541090687	0.31801	0.101	0.17445	B	.	.	2.470351	0.31840	18.86	0.99667851625899584	0.78394	0.85518	0.44659	D	AEFDGBI	0.194976	0.32203	N	0.0768730149753547	0.45387	2.795984	0.138139695088751	0.46517	2.896401	0.999999646039494	0.74766	0.541725	0.22260	1	0.459889	0.06624	1	0.491513	0.07944	0	0.530356	0.10902	0	.	.	5.2	4.06	0.46572	1.652000	0.36929	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.8848:0.0:0.1152	11.046	0.47074	67	0.97183	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase A6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2249.98	34	chr8	67506878	.	C	T	2249.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=882;ExcessHet=0.0000;FS=4.256;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=0.330;SOR=0.459	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1396	20	0	1	0
chr8	68446397	68446397	A	G	exonic	C8orf34	.	nonsynonymous SNV	C8orf34:NM_001195639:exon3:c.A544G:p.K182E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998	D	0.994	D	0.000	D	1.000	D	1.95	M	0.64	T	-0.520	T	0.319	T	0.818	4.791	27.0	6.02	2.311	8.839	16.545	0.351	0.0336338411932	.	0.000199681	0.0003	0	8.682e-05	0	0	0	0	0.0022	0.0002458	38	154602	rs533895950	0.0002	0.0002	8.855e-05	0.0002	0.0026	0.0001	0.0001	0.0023	0.0022	0	2.244e-05	0	0	0	0.0002	2.699e-06	0.0002	0.0026	9.846e-05	9.841e-05	2.569e-05	0.0002	0.0031	6.001e-05	4.875e-05	0.0019	0.0016	0	0	0	0	0	0	0	0	0	0.0031	0.019	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999529	0.47407	D	2.095	0.58118	M	0.61	0.56446	T	-2.4	0.57275	N	0.82	0.86833	-0.5205	0.67896	T	0.319	0.68796	T	9	0.047130316	0.03991	T	0.033634	0.55122	D	0.351	0.67234	0.386	0.40624	0.78560403847	0.78361	0.4575838642916333	0.45676	0.779756660727	0.65227	.	.	.	.	.	.	-0.135528	0.30606	T	0.0260708	0.72022	D	0.136835414803062	0.15999	T	0.931907	0.74605	D	0.514056	0.67916	0.53757095	0.73276	0.514056	0.67917	0.53757095	0.73277	-3.188	0.22348	T	.	.	0.942	0.86069	P	.;.;.;.	.;.;.;.	4.521270	0.70897	25.6	0.99833093843937215	0.91456	0.98696	0.85696	D	AEI	0.932158	0.92207	D	0.792866377145968	0.85658	8.642006	0.805935591708384	0.90203	10.30158	0.99991716514479	0.45857	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.02	6.02	0.97559	8.825000	0.91654	11.147000	0.87239	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.545	0.84275	595	0.68488	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1221.98	104	chr8	68446397	.	A	G	1221.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.315;DP=784;ExcessHet=0.0000;FS=0.745;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=-8.490e-01;SOR=0.563	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1158	20	0	1	0
chr8	69586404	69586404	C	G	exonic	SULF1	.	nonsynonymous SNV	SULF1:NM_001128204:exon6:c.C460G:p.P154A	.	.	431	1087	3	0	1	4	0.00137804	.	.	1476675	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.066	B	0.298	B	0.000	D	1.000	D	1.875	L	-3.96	D	0.769	D	0.887	D	0.793	4.023	20.6	5.65	2.661	7.766	19.717	0.761	0.221349911157	0.0005	.	0.0005	0.0002	8.696e-05	0	0.0002	0.0007	0.0011	0.0007	0.0004916	76	154602	rs147245253	0.0010	0.0010	0.0010	0.0010	0.0012	0.0009	0.0009	0.0010	0.0010	0.0003	0	0	0	0.0001	0.0002	0.0011	0.0018	0.0012	0.0006	0.0006	0.0007	0.0006	0.0011	0.0005	0.0005	0.0009	0.0008	0.0003	0	0	0	0	9.43e-05	0.0034	0.0011	0.0005	0.0010	0.017	0.51248	D	0.016	0.69154	D	0.066	0.23586	B	0.298	0.40966	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.01	0.54746	M	-3.96	0.96208	D	-6.95	0.94814	D	0.694	0.79214	0.769	0.94026	D	0.887	0.96255	D	10	0.5578514	0.64619	D	0.22135	0.87802	D	0.761	0.91879	.	.	0.680840238837	0.67812	0.9143443446616709	0.91409	0.6537391267	0.58494	0.743666768074	0.73512	T	0.830888	0.95961	D	0.073703	0.61294	D	0.282652	0.87266	D	0.148481434688623	0.16982	T	0.949805	0.80758	D	0.5311336	0.68895	0.50384265	0.71320	0.5311336	0.68896	0.50384265	0.71320	-8.893	0.67005	D	.	.	0.137	0.32589	B	.;.;.;.;.	.;.;.;.;.	4.070729	0.60485	24.2	0.98867781839241164	0.47580	0.99683	0.98635	D	AEFBI	0.909688	0.86663	D	0.355533907460619	0.59034	4.079478	0.496096291270342	0.67732	5.123426	0.999999999999357	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.687403	0.62504	0	0.613276	0.41899	0	.	.	5.65	5.65	0.86881	7.879000	0.85694	7.699000	0.66186	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.717	0.96119	908	0.22609	Sulfatase, N-terminal;Sulfatase, N-terminal;Sulfatase, N-terminal;Sulfatase, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	310.98	46	chr8	69586404	.	C	G	310.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.424e+00;DP=722;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.76;ReadPosRankSum=-3.940e-01;SOR=0.562	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1106	20	0	1	0
chr8	70138290	70138290	C	T	exonic	NCOA2	.	nonsynonymous SNV	NCOA2:NM_001321711:exon14:c.G2864A:p.S955N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.001	B	0.003	B	0.002	N	1.000	N	2.005	M	4.76	T	-1.021	T	0.025	T	0.055	2.098	12.97	4.08	0.810	1.631	6.927	0.035	0.00512283783014	0.0003	0.000199681	0.0002	0.0024	0.0002	0	0	0	0	0	0.0001552	24	154602	rs201737764	7.05e-05	7.046e-05	7.899e-05	6.192e-05	0.0027	5.917e-05	5.526e-05	0.0022	0.0021	0.0027	0.0001	0	0	0	0	0	0.0001	0	0.0007	0.0007	0.0007	0.0007	0.0024	0.0006	0.0006	0.0020	0.0019	0.0024	0	0.0004	0	0	0	0	0	0.0019	0	0.202	0.20230	T	0.605	0.07816	T	0.001	0.07471	B	0.001	0.04355	B	0.001566	0.38612	N	0.314683	0.999551	0.20991	N	1.465	0.36909	L	4.76	0.01576	T	-0.86	0.23372	N	0.273	0.30914	-1.0212	0.23324	T	0.025	0.10509	T	10	0.011536628	0.00252	T	0.005123	0.13001	T	0.064	0.18567	.	.	0.250512400709	0.24649	0.22732295524306384	0.22647	0.114582706681	0.12926	0.588038861752	0.51217	T	0.110743	0.42568	T	-0.638732	0.00085	T	-0.694262	0.06145	T	0.0152911976177459	0.00338	T	0.794521	0.43681	T	0.11665585	0.27511	0.09289041	0.21915	0.11665585	0.27511	0.09289041	0.21914	-3.981	0.23518	T	.	.	0.093	0.13923	B	.	.	2.463591	0.31739	18.83	0.97016971968453436	0.32010	0.84790	0.43880	D	AEFBI	0.242373	0.36383	N	-0.118204821671362	0.36601	2.117773	0.0182913878669311	0.40565	2.422908	0.722775847521297	0.22952	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.88	4.08	0.46880	1.679000	0.37213	2.652000	0.33822	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.5915:0.2614:0.1471	6.927	0.23599	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	835.98	39	chr8	70138290	.	C	T	835.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.630e-01;DP=795;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.07;ReadPosRankSum=1.05;SOR=0.788	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1236	20	0	1	0
chr8	70148392	70148392	G	C	exonic	NCOA2	.	nonsynonymous SNV	NCOA2:NM_001321713:exon11:c.C2024G:p.A675G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.002	B	0.002	B	0.000	D	1.000	D	0.345	N	4.77	T	-0.789	T	0.004	T	0.236	0.854	8.456	4.74	1.557	3.372	7.666	0.115	0.00414627126838	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.519	0.07283	T	0.459	0.12632	T	0.002	0.09854	B	0.002	0.06944	B	0.000161	0.48594	D	0.216153	0.875697	0.28134	N	0.38	0.12130	N	4.77	0.01563	T	0.38	0.03579	N	0.197	0.21710	-0.7891	0.55782	T	0.004	0.01295	T	10	0.060965538	0.07571	T	0.004146	0.09931	T	0.115	0.32236	0.15	0.05339	0.158540857583	0.15491	0.15747807245067924	0.15668	0.124540925557	0.14028	0.460689425468	0.33405	T	0.042469	0.26194	T	-0.225483	0.17250	T	-0.561667	0.16220	T	0.667978823184967	0.39247	D	0.824718	0.48674	T	0.13418041	0.31184	0.036668926	0.03161	0.13418041	0.31184	0.036668926	0.03160	-2.847	0.08624	T	.	.	0.092	0.13550	B	.	.	3.292443	0.45157	22.1	0.92122298984014095	0.21477	0.89646	0.50244	D	ALL	.	.	.	-0.26262374063078	0.30603	1.70791	-0.0381717452733541	0.38006	2.233125	1.0	0.98316	0.839682	0.99964	0	0.696144	0.67643	0	0.736553	0.94036	0	0.629945	0.49285	0	.	.	5.64	4.74	0.59717	3.448000	0.52706	6.751000	0.56511	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1505:0.1335:0.716:0.0	7.666	0.27598	928	0.17405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	802.98	35	chr8	70148392	.	G	C	802.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.431e+00;DP=780;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.23;ReadPosRankSum=-2.010e-01;SOR=0.762	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1287	20	0	1	0
chr8	70681069	70681069	C	T	exonic	XKR9	.	nonsynonymous SNV	XKR9:NM_001011720:exon3:c.C11T:p.T4I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.96	D	0.001	D	0.990	D	1.845	L	.	.	-0.404	T	0.321	T	0.553	3.821	19.40	4.71	1.314	3.061	12.704	0.192	0.0072654162621	.	.	.	.	.	.	.	.	.	.	.	.	.	rs775529750	2.057e-06	2.052e-06	4.092e-06	0	0.0004	5.5e-07	1.5e-07	6.196e-05	2.56e-05	0	0	0	0	0	0.0004	0	0	1.163e-05	6.578e-06	6.569e-06	0	1.347e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.003	0.68238	D	0.007	0.92824	D	0.999	0.77913	D	0.96	0.70309	D	0.000771	0.41888	D	0.240860	0.990286	0.41126	D	2.3	0.65703	M	.	.	.	-2.32	0.62343	N	0.569	0.59223	-0.4043	0.71892	T	0.321	0.68995	T	9	0.26491135	0.43983	T	0.007265	0.19253	T	0.192	0.47115	0.317	0.29419	0.180583059064	0.17676	0.5999416851774617	0.59925	0.00630344529548	0.00551	0.58574450016	0.50896	T	0.137051	0.46978	T	-0.0295744	0.47480	T	-0.179628	0.56557	T	0.808377623558044	0.46932	D	0.666633	0.27564	T	0.096709475	0.22784	0.18751396	0.41987	0.096709475	0.22784	0.18751396	0.41986	-7.057	0.54449	T	.	.	0.501	0.64618	A	.;.;.	.;.;.	3.488401	0.48748	22.7	0.99881719928412638	0.95733	0.87859	0.47545	D	AEFGI	0.298045	0.40747	N	0.461027894784471	0.64832	4.746772	0.408580671793918	0.62098	4.419711	0.999928157412208	0.46280	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.61	4.71	0.59010	3.180000	0.50595	1.762000	0.28561	0.549000	0.26987	1.000000	0.71638	0.972000	0.29809	0.995000	0.73285	0.1651:0.8349:0.0:0.0	12.704	0.56421	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1198.98	45	chr8	70681069	.	C	T	1198.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.300e-02;DP=786;ExcessHet=0.0000;FS=4.817;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.45;ReadPosRankSum=-8.870e-01;SOR=0.325	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1197	20	0	1	0
chr8	71354785	71354785	C	G	exonic	EYA1	.	nonsynonymous SNV	EYA1:NM_172058:exon2:c.G121C:p.E41Q	Anterior segment anomalies with or without cataract, Autosomal dominant;Branchiootic syndrome 1, Autosomal dominant;Branchiootorenal syndrome 1, with or without cataracts, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	244016	Renal_hypoplasia|Melnick-Fraser_syndrome	Human_Phenotype_Ontology:HP:0000089,Human_Phenotype_Ontology:HP:0001968,Human_Phenotype_Ontology:HP:0004741,Human_Phenotype_Ontology:HP:0008641,MONDO:MONDO:0019637,MedGen:C0266295,Orphanet:93101|MONDO:MONDO:0007029,MedGen:C0265234,OMIM:PS113650,Orphanet:107	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.51	T	0.999	D	0.956	D	0.000	D	1.000	D	0.345	N	-2.1	D	0.046	D	0.615	D	0.637	4.965	29.0	5.7	2.676	7.814	19.814	0.372	0.0482719784605	.	0.000199681	0.0005	0	8.639e-05	0	0	4.495e-05	0.0044	0.0030	0.0003816	59	154602	rs561111097	0.0002	0.0002	0.0001	0.0003	0.0024	0.0002	0.0002	0.0021	0.0020	0	6.714e-05	0	0	0	0.0005	4.77e-05	0.0002	0.0024	8.538e-05	8.531e-05	6.425e-05	0.0001	0.0017	4.955e-05	3.961e-05	0.0008	0.0006	0	0	6.536e-05	0	0	0	0	4.411e-05	0.0005	0.0017	0.094	0.31383	T	0.536	0.10173	T	0.999	0.77913	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	0.999984	0.81001	D	1.1	0.28011	L	-2.1	0.86146	D	-0.55	0.18248	N	0.648	0.70615	0.046	0.83162	D	0.615	0.86397	D	10	0.018843174	0.00414	T	0.048272	0.63300	D	0.372	0.69102	0.125	0.03095	0.631644232799	0.62863	0.6533393946082489	0.65269	0.825720942332	0.67392	0.706214010715	0.68044	T	0.340669	0.70967	T	-0.167163	0.25664	T	-0.0178206	0.69172	D	0.0841902930824591	0.10514	T	0.931007	0.74900	D	0.2017262	0.42194	0.20660093	0.44881	0.20045115	0.42020	0.22437347	0.47346	-2.643	0.06837	T	0.2115258044196134	0.28361	0.212	0.47116	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.983004	0.82549	27.8	0.99731630941359817	0.82833	0.99309	0.94295	D	AEFDBI	0.943031	0.94836	D	0.513439884930484	0.67885	5.141602	0.604325851436735	0.75253	6.27806	0.999999999999997	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.7	5.7	0.88690	7.868000	0.85503	7.720000	0.67265	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.814	0.96556	757	0.50970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1508.98	34	chr8	71354785	.	C	G	1508.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.050e+00;DP=810;ExcessHet=0.0000;FS=4.594;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=-2.960e-01;SOR=0.490	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1209	20	0	1	0
chr8	72568126	72568126	T	C	exonic	KCNB2	.	nonsynonymous SNV	KCNB2:NM_004770:exon2:c.T392C:p.I131T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.982	D	0.93	D	.	.	1.000	D	-0.24	N	-0.97	T	-0.279	T	0.333	T	0.896	4.370	23.1	6.07	2.326	8.040	16.314	0.592	0.0551649391622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.005	0.72224	D	0.982	0.60036	D	0.93	0.66466	D	.	.	.	.	0.999995	0.58761	D	0.205	0.09354	N	-0.97	0.75670	T	-3.55	0.68764	D	0.86	0.85660	-0.2786	0.75579	T	0.333	0.70026	T	9	0.8193847	0.81153	D	0.055165	0.66132	D	0.592	0.83747	0.427	0.47350	0.909612759745	0.90871	0.76148700511481	0.76096	1.25690945348	0.81934	0.951684474945	0.99785	D	0.641842	0.89027	D	0.318427	0.84359	D	0.219622	0.84156	D	0.924446704382473	0.58562	D	0.920608	0.71304	D	0.28000912	0.51049	0.35322383	0.60888	0.28000912	0.51049	0.35322383	0.60887	-4.84	0.35053	T	.	.	0.998	0.97009	P	.	.	4.856204	0.79421	27.1	0.99855413978733831	0.93458	0.98167	0.80181	D	AEFI	0.921860	0.89597	D	0.53268574687625	0.69034	5.300113	0.635276251618612	0.77519	6.694933	0.999989729781648	0.51787	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.07	6.07	0.98675	8.017000	0.88732	7.844000	0.70656	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	16.314	0.82741	953	0.10115	Potassium channel tetramerisation-type BTB domain|BTB/POZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	66.1	41	chr8	72568126	.	T	C	66.1	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.396e+00;DP=1116;ExcessHet=0.1072;FS=113.325;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.31;ReadPosRankSum=1.16;SOR=6.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,102,1530	19	0	2	0
chr8	72937418	72937418	A	G	exonic	KCNB2	.	nonsynonymous SNV	KCNB2:NM_004770:exon3:c.A2063G:p.H688R,	.	.	432	1024	60	5	1	71	0.03305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.579	P	0.288	B	0.447	N	1.000	N	0.69	N	2.16	T	-1.042	T	0.036	T	0.215	-0.716	0.922	2.15	0.250	1.190	7.771	0.031	.	0.0018	0.00579073	0.0060	0.0002	0.0014	0.0001	0.0002	0.0024	0.0077	0.0324	0.0052134	806	154602	rs148879809	0.0034	0.0034	0.0025	0.0043	0.0305	0.0033	0.0033	0.0295	0.0291	0.0001	0.0014	0.0093	7.558e-05	0.0003	0.0201	0.0014	0.0048	0.0305	0.0024	0.0024	0.0019	0.0030	0.0305	0.0022	0.0022	0.0265	0.0250	0.0002	0	0.0020	0.0098	0.0002	9.438e-05	0.0068	0.0020	0.0047	0.0305	0.167	0.23095	T	0.393	0.15355	T	0.579	0.38789	P	0.288	0.40614	B	0.447423	0.12550	N	0.645143	0.999796	0.20333	N	0.755	0.19153	N	2.16	0.19166	T	0.17	0.05125	N	0.194	0.21319	-1.0423	0.16621	T	0.036	0.15640	T	10	0.0031713843	0.00053	T	.	.	.	0.031	0.07369	.	.	0.449242652821	0.44546	0.2769550992391696	0.27608	0.678472507498	0.59887	0.326055109501	0.14337	T	0.072245	0.34406	T	-0.586394	0.00176	T	-0.592094	0.13486	T	0.0182838058385119	0.00547	T	0.329367	0.06881	T	0.031181686	0.02911	0.04825675	0.07130	0.031181686	0.02911	0.04825675	0.07129	-3.165	0.12058	T	.	.	0.066	0.02145	B	.	.	0.497220	0.08661	5.435	0.83565526180723326	0.14796	0.44910	0.27422	N	AEFBI	0.231181	0.35445	N	-0.568358184222436	0.19911	1.045796	-0.633352496499007	0.18638	0.996561	0.027996616103475	0.13806	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.564101	0.26826	0	.	.	4.65	2.15	0.26590	1.870000	0.39166	1.146000	0.24443	0.691000	0.84096	0.046000	0.21249	0.025000	0.21018	0.780000	0.36908	0.7174:0.1446:0.0:0.138	7.771	0.28173	849	0.35778	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	6278.68	34	chr8	72937418	.	A	G	6278.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.776;DP=1285;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.43;ReadPosRankSum=0.379;SOR=0.658	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1254	18	0	3	0
chr8	73024874	73024874	C	A	exonic	TERF1	.	nonsynonymous SNV	TERF1:NM_003218:exon5:c.C677A:p.S226Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.992	D	0.903	P	0.026	N	1.000	N	1.1	L	.	.	-1.005	T	0.146	T	0.499	2.476	14.24	3.94	1.412	1.856	9.545	0.251	0.00455764551417	.	0.00119808	0.0004	0.0001	8.87e-05	0	0	0	0	0.0025	0.0003169	49	154602	rs547949193	0.0001	0.0001	7.206e-05	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	3.043e-05	0	0	0	0	0	4.527e-06	8.378e-05	0.0022	0.0002	0.0002	0.0001	0.0002	0.0035	0.0001	8.717e-05	0.0022	0.0018	2.408e-05	0	0	0	0	0	0	7.353e-05	0	0.0035	0.054	0.58626	T	0.014	0.63109	D	0.992	0.64738	D	0.903	0.64103	P	0.025879	0.26015	N	0.408600	0.999922	0.19486	N	2.2	0.62015	M	.	.	.	-2.81	0.59389	D	0.436	0.53269	-1.0047	0.28547	T	0.146	0.47111	T	9	0.0089553	0.00203	T	0.004558	0.11252	T	0.251	0.56024	.	.	0.510777188826	0.50718	0.1371765793372844	0.13641	0.722684198282	0.62304	0.466367840767	0.34183	T	0.788633	0.94487	D	-0.295857	0.09057	T	-0.20423	0.54245	T	0.123079762129914	0.14728	T	0.725927	0.34027	T	0.2255506	0.45219	0.20847195	0.45151	0.2255506	0.45219	0.20847195	0.45150	-8.784	0.66296	D	.	.	0.141	0.35352	B	.;.;.	.;.;.	3.724868	0.53253	23.3	0.99257926454918532	0.57121	0.45097	0.27463	N	AEFBI	0.071661	0.14274	N	0.197724198163122	0.51089	3.293057	0.14534314055333	0.46895	2.928225	0.999161387048251	0.38622	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.77	3.94	0.44807	2.036000	0.40786	3.348000	0.37762	0.599000	0.40250	0.769000	0.29345	0.998000	0.33993	0.920000	0.45560	0.0:0.8311:0.0:0.1689	9.545	0.38440	941	0.13089	Telomere repeat-binding factor, dimerisation domain|Telomere repeat-binding factor, dimerisation domain;.;Telomere repeat-binding factor, dimerisation domain|Telomere repeat-binding factor, dimerisation domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2560.08	33	chr8	73024874	.	C	A	2560.08	.	AC=2;AF=0.048;AN=42;DP=775;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=59.91;QD=30.84;SOR=1.112	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1217	20	1	0	0
chr8	73067420	73067420	C	A	exonic	SBSPON	.	nonsynonymous SNV	SBSPON:NM_153225:exon5:c.G716T:p.R239L,	.	.	443	1078	1	0	0	1	0.000463607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.959	D	0.406	B	0.007	N	0.858	D	1.1	L	2.08	T	-1.052	T	0.037	T	0.534	3.810	19.35	4.19	1.539	0.618	5.970	0.113	0.00811571374245	0.0035	0.00119808	0.0023	0.0008	0.0018	0	0.0003	0.0033	0.0011	0.0011	0.0022445	347	154602	rs189764328	0.0035	0.0035	0.0035	0.0034	0.0041	0.0034	0.0034	0.0040	0.0040	0.0005	0.0023	0.0007	0	0.0005	0.0021	0.0041	0.0036	0.0012	0.0023	0.0023	0.0024	0.0022	0.0042	0.0021	0.0020	0.0033	0.0030	0.0009	0	0.0042	0.0009	0	0.0002	0	0.0035	0.0005	0.0008	0.207	0.19854	T	0.628	0.07244	T	0.959	0.55135	D	0.406	0.44683	B	0.006795	0.31798	N	0.309688	0.857506	0.35328	D	1.7	0.43825	L	2.08	0.20255	T	-3.5	0.68178	D	0.308	0.34767	-1.0524	0.13736	T	0.037	0.16160	T	10	0.009394914	0.00212	T	0.008116	0.21521	T	0.113	0.31778	.	.	0.363751660372	0.35992	0.5940992411801964	0.59339	0.489389826188	0.47706	0.344394654036	0.17094	T	0.089508	0.38387	T	-0.451554	0.01106	T	-0.423824	0.30638	T	0.0242701054191766	0.01180	T	0.906909	0.67118	D	0.2194924	0.44483	0.20048963	0.43983	0.2194924	0.44483	0.20048963	0.43982	-8.171	0.62229	D	.	.	0.120	0.24934	B	.	.	3.679325	0.52360	23.2	0.99694817158280147	0.80180	0.62166	0.31700	D	AEFI	0.401326	0.47586	N	0.118477295643237	0.47325	2.959808	0.159171282193398	0.47631	2.99037	0.0307655024252401	0.13963	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.99	4.19	0.48645	0.831000	0.27129	3.221000	0.36854	0.599000	0.40250	0.529000	0.27181	1.000000	0.68203	0.998000	0.85391	0.0:0.6409:0.1419:0.2172	5.970	0.18581	952	0.10565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1949.11	33	chr8	73067420	.	C	A	1949.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.33;DP=841;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.00;ReadPosRankSum=0.057;SOR=0.715	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1190	19	0	2	0
chr8	73093040	73093040	C	G	exonic	SBSPON	.	nonsynonymous SNV	SBSPON:NM_153225:exon1:c.G28C:p.A10P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.946	P	0.484	P	0.910	N	0.995	N	1.1	L	2.22	T	-1.037	T	0.047	T	0.573	3.189	16.67	3.78	2.107	1.489	13.028	0.119	0.0949513530143	.	0.000599042	0.0034	0	0	0	0	0	0	0.0048	7.12e-05	11	154602	rs550192636	5.947e-05	6.088e-05	3.184e-05	8.842e-05	0.0013	4.833e-05	4.446e-05	0.0010	0.0009	0	0	0	0	0	0	9.954e-07	0.0001	0.0013	7.243e-05	7.221e-05	5.153e-05	9.427e-05	0.0023	3.979e-05	3.133e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.251	0.17069	T	0.104	0.38160	T	0.946	0.53363	P	0.484	0.47189	P	0.910361	0.07411	N	1.044290	0.995093	0.23373	N	1.32	0.33002	L	2.22	0.18248	T	-1.22	0.30964	N	0.61	0.62696	-1.0366	0.18357	T	0.047	0.20077	T	10	0.010487258	0.00233	T	0.094951	0.76342	D	0.119	0.33137	0.416	0.45544	0.0986583533028	0.09354	0.7288561395940019	0.72829	0.666257477821	0.59183	0.817527651787	0.84649	D	0.005188	0.04636	T	-0.451907	0.01101	T	-0.425588	0.30436	T	0.169881426082105	0.18572	T	0.463454	0.13490	T	0.4322123	0.62897	0.52936214	0.72807	0.4322123	0.62897	0.52936214	0.72807	-8.714	0.65837	D	.	.	0.173	0.37914	B	.	.	2.987181	0.39869	21.1	0.99494186990456357	0.67630	0.45330	0.27514	N	AEFDBHCIJ	0.343489	0.43928	N	0.11141211795275	0.46994	2.931489	0.110348198352323	0.45076	2.777373	0.99999863079065	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.666236	0.60216	0	0.63947	0.58350	0	.	.	3.78	3.78	0.42629	2.397000	0.44131	4.357000	0.43106	0.520000	0.23804	0.971000	0.34370	1.000000	0.68203	0.109000	0.18697	0.0:1.0:0.0:0.0	13.028	0.58236	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	309.98	30	chr8	73093040	.	C	G	309.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=586;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.33;ReadPosRankSum=-1.487e+00;SOR=0.616	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1254	20	0	1	0
chr8	73292779	73292782	AACC	-	exonic	RPL7	.	frameshift deletion	RPL7:NM_000971:exon2:c.30_33del:p.E10Dfs*18,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	362.71	76	chr8	73292778	.	GAACC	G	362.71	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.040e+00;DP=1647;ExcessHet=0.3300;FS=137.042;InbreedingCoeff=-0.0759;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=1.41;ReadPosRankSum=1.38;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:89,0:89:99:.:.:0,120,1800	18	0	3	0
chr8	73292779	73292779	A	0	exonic	RPL7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	131.25	81	chr8	73292779	.	A	G,*	131.25	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=-2.333e+00;DP=1586;ExcessHet=0.6776;FS=162.685;InbreedingCoeff=-0.1063;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=0.38;ReadPosRankSum=0.861;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:75,0,0:75:68:.:.:0,68,2006,68,2006,2006	17	0	1	0
chr8	73292781	73292781	C	G	exonic	RPL7	.	nonsynonymous SNV	RPL7:NM_000971:exon2:c.G31C:p.V11L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.045	B	0.005	B	0.004	U	1.000	D	0.79	N	.	.	-1.039	T	0.071	T	0.151	0.788	8.155	1.89	0.549	0.308	6.001	0.037	0.0139334947433	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.437e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.952	0.02136	T	0.854	0.03467	T	0.045	0.21781	B	0.005	0.11217	B	0.003767	0.34511	U	0.183686	0.999531	0.81001	D	1.77	0.45869	L	.	.	.	1.0	0.01408	N	0.172	0.18376	-1.0393	0.17526	T	0.071	0.28936	T	9	0.04261172	0.03028	T	0.013933	0.33698	T	0.037	0.09474	0.223	0.14665	0.250512400709	0.24649	0.1907967873718953	0.18997	0.377967339066	0.39223	0.499058246613	0.38697	T	0.104702	0.41449	T	-0.147378	0.28722	T	-0.449475	0.27754	T	0.341861397027969	0.26697	T	0.692631	0.30204	T	0.053786583	0.10227	0.03245266	0.01983	0.053786583	0.10227	0.03245266	0.01983	-5.272	0.39665	T	.	.	0.186	0.40164	B	.	.	3.113271	0.42004	21.5	0.92328883612177748	0.21725	0.85326	0.44448	D	AEFDBHCI	0.200703	0.32741	N	-0.616447560925101	0.18449	0.9579671	-0.483828824768087	0.22598	1.228242	0.999967735189877	0.48965	0.733237	0.96898	0	0.600757	0.49542	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	3.68	1.89	0.24700	0.406000	0.20754	0.851000	0.22138	0.589000	0.31548	0.948000	0.32982	0.988000	0.31051	0.996000	0.76049	0.0:0.7704:0.0:0.2296	6.001	0.18750	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1538	134.68	74	chr8	73292781	.	C	G,*	134.68	.	AC=1,3;AF=0.038,0.115;AN=26;BaseQRankSum=-1.504e+00;DP=1513;ExcessHet=0.6776;FS=104.475;InbreedingCoeff=-0.2386;MLEAC=1,4;MLEAF=0.038,0.154;MQ=60.00;MQRankSum=0.00;QD=0.40;ReadPosRankSum=1.71;SOR=8.155	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:65,0,0:65:31:.:.:0,31,1635,31,1635,1635	9	0	1	8
chr8	73292781	73292781	C	0	exonic	RPL7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1538	134.68	74	chr8	73292781	.	C	G,*	134.68	.	AC=1,3;AF=0.038,0.115;AN=26;BaseQRankSum=-1.504e+00;DP=1513;ExcessHet=0.6776;FS=104.475;InbreedingCoeff=-0.2386;MLEAC=1,4;MLEAF=0.038,0.154;MQ=60.00;MQRankSum=0.00;QD=0.40;ReadPosRankSum=1.71;SOR=8.155	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:65,0,0:65:31:.:.:0,31,1635,31,1635,1635	9	0	1	8
chr8	73292782	73292782	-	GGGG	exonic	RPL7	.	frameshift insertion	RPL7:NM_000971:exon2:c.29_30insCCCC:p.E10Dfs*11,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	523.71	70	chr8	73292782	.	C	CGGGG	523.71	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.625e+00;DP=1380;ExcessHet=0.6776;FS=99.991;InbreedingCoeff=-0.1354;MLEAC=4;MLEAF=0.105;MQ=60.00;MQRankSum=0.00;QD=1.57;ReadPosRankSum=1.67;SOR=8.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:62,0:62:93:.:.:0,93,1690	15	0	4	2
chr8	73552155	73552155	T	C	exonic	STAU2	.	nonsynonymous SNV	STAU2:NM_001164383:exon8:c.A871G:p.T291A	.	.	.	.	.	.	.	.	.	.	.	2217453	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.44	T	0.004	B	0.005	B	0.000	D	1.000	D	0.695	N	0.53	T	-1.080	T	0.081	T	0.17	0.673	7.603	3.41	0.856	1.163	4.952	0.095	0.00662923856107	0.0002	.	5.769e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs145795257	5.336e-05	5.336e-05	5.99e-05	4.676e-05	0.0002	4.344e-05	4.018e-05	5.248e-05	4.823e-05	0	0	3.827e-05	2.52e-05	0	0.0002	6.476e-05	3.312e-05	1.159e-05	4.6e-05	4.596e-05	5.138e-05	4.035e-05	0.0001	2.109e-05	1.527e-05	4.766e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0	0	0.393	0.16574	T	0.695	0.28120	T	0.001	0.07471	B	0.001	0.04355	B	0.000001	0.62929	D	0.098617	0.989469	0.42444	D	0.895	0.22405	L	0.53	0.55090	T	-0.85	0.41809	N	0.293	0.37093	-1.0796	0.07426	T	0.081	0.31913	T	10	0.080525994	0.13080	T	0.006629	0.17501	T	0.095	0.27398	.	.	0.0675242888579	0.06100	0.40939452534728277	0.40855	0.25520024391	0.28107	0.425389230251	0.28578	T	0.008045	0.14853	T	-0.341115	0.05311	T	-0.468085	0.25723	T	0.0289996426475553	0.01838	T	0.487251	0.28590	T	0.047288023	0.08058	0.05570383	0.09822	0.047288023	0.08058	0.05570383	0.09821	-2.6	0.10010	T	.	.	0.063	0.02370	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	1.898157	0.24109	16.27	0.90007651411578504	0.19298	0.76502	0.37525	D	AEFDGIJ	0.148356	0.27222	N	-0.409414175954376	0.25137	1.362413	-0.24361333460125	0.29992	1.68489	0.999998035121315	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	4.6	3.41	0.38145	1.154000	0.31299	1.085000	0.23927	0.665000	0.62972	0.971000	0.34370	0.987000	0.30940	1.000000	0.97212	0.0:0.1561:0.1612:0.6827	4.952	0.13370	804	0.43891	Staufen, C-terminal;Staufen, C-terminal;Staufen, C-terminal;Staufen, C-terminal;Staufen, C-terminal;Staufen, C-terminal;Staufen, C-terminal;Staufen, C-terminal;Staufen, C-terminal;Staufen, C-terminal;Staufen, C-terminal;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	834.98	38	chr8	73552155	.	T	C	834.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.442;DP=746;ExcessHet=0.0000;FS=3.657;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.15;ReadPosRankSum=0.647;SOR=0.317	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr8	74026800	74026802	ACA	-	exonic	LY96	.	nonframeshift deletion	LY96:NM_001195797:exon3:c.253_255del:p.T86del	.	.	489	1030	3	0	0	3	0.00145419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.000998403	0.0026	0.0002	0.0019	0	0.0015	0.0032	0.0036	0.0042	0.0001537	4	26028	rs527737087	0.0016	0.0018	0.0015	0.0017	0.0036	0.0015	0.0015	0.0033	0.0031	0.0003	0.0019	0.0002	0	0.0012	0.0013	0.0015	0.0018	0.0036	0.0018	0.0018	0.0021	0.0015	0.0031	0.0016	0.0015	0.0024	0.0022	0.0005	0	0.0031	0	0	0.0008	0	0.0027	0.0014	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2176.94	107	chr8	74026799	.	TACA	T	2176.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.000e-01;DP=823;ExcessHet=0.0000;FS=2.491;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.35;ReadPosRankSum=0.502;SOR=0.955	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1060	20	0	1	0
chr8	75016615	75016615	G	A	exonic	CRISPLD1	.	nonsynonymous SNV	CRISPLD1:NM_001286777:exon5:c.G220A:p.E74K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.997	D	0.985	D	0.000	D	1.000	D	2.05	M	0.21	T	0.422	D	0.693	D	0.798	4.292	22.5	4.98	2.734	8.085	18.803	0.402	0.170953092797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.019	0.61642	D	0.997	0.70673	D	0.985	0.76457	D	0.000025	0.55875	D	0.118146	0.999999	0.58761	D	2.475	0.71894	M	0.21	0.83157	T	-1.96	0.45404	N	0.714	0.71676	0.422	0.89425	D	0.693	0.89400	D	10	0.62396795	0.68136	D	0.170953	0.84837	D	0.402	0.71558	0.311	0.28451	0.94539822836	0.94482	0.8301270187888965	0.82971	0.781083233994	0.65296	0.662772417068	0.61806	T	0.173619	0.52255	T	0.276129	0.80981	D	0.158864	0.80736	D	0.938455104827881	0.60909	D	0.925907	0.72722	D	0.3458433	0.56741	0.40086585	0.64612	0.3458433	0.56741	0.40086585	0.64612	-4.109	0.30296	T	.	.	0.549	0.66764	A	.;.;.	.;.;.	4.864898	0.79640	27.1	0.99932140240663603	0.99439	0.96581	0.69858	D	AEFBCI	0.874386	0.79724	D	0.700737701548308	0.79682	7.129213	0.64081209598111	0.77929	6.774772	0.999996059349345	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	4.98	4.98	0.65679	8.162000	0.89609	11.562000	0.93235	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.399000	0.26759	0.0:0.0:1.0:0.0	18.803	0.91993	899	0.25060	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	810.98	41	chr8	75016615	.	G	A	810.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.236;DP=776;ExcessHet=0.0000;FS=0.864;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.40;ReadPosRankSum=0.751;SOR=0.534	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1090	20	0	1	0
chr8	76704578	76704578	G	A	exonic	ZFHX4	.	nonsynonymous SNV	ZFHX4:NM_024721:exon2:c.G490A:p.A164T,	.	.	.	.	.	.	.	.	.	.	.	711633	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.27	T	0.976	D	0.677	P	0.000	U	1.000	D	0.895	L	1.4	T	-1.098	T	0.111	T	0.651	2.318	13.71	5.42	2.821	5.886	19.416	0.127	0.00939909704251	0.0014	0.00119808	0.0012	0.0004	0.0008	0	0.0002	0.0020	0.0011	0	0.001326	205	154602	rs147642461	0.0020	0.0020	0.0020	0.0019	0.0024	0.0019	0.0019	0.0023	0.0023	0.0003	0.0013	0.0010	0	0.0005	0.0005	0.0024	0.0015	2.319e-05	0.0014	0.0014	0.0016	0.0011	0.0023	0.0012	0.0012	0.0020	0.0019	0.0006	0	0.0011	0.0017	0	0.0005	0	0.0023	0.0005	0	0.081	0.33753	T	0.224	0.25591	T	.	.	.	.	.	.	0.000484	0.43931	U	0.000000	0.999995	0.58761	D	0.345	0.11182	N	1.4	0.33630	T	-1.84	0.43149	N	0.777	0.77413	-1.0982	0.04315	T	0.111	0.39982	T	10	0.012676746	0.00271	T	0.009399	0.24646	T	0.127	0.34888	.	.	0.204265027416	0.20035	0.489337638856439	0.48853	0.460900775349	0.45645	0.543142080307	0.44890	T	.	.	.	-0.348495	0.04823	T	-0.277356	0.47075	T	0.0303455218929677	0.02043	T	0.850115	0.53399	D	.	.	.	.	.	.	.	.	-4.094	0.25201	T	.	.	0.092	0.13550	B	.;.;.	.;.;.	3.902515	0.56852	23.8	0.9887355204090571	0.47684	0.94250	0.60572	D	AEFBI	0.689107	0.64989	D	0.448998656766669	0.64146	4.662722	0.526818821751887	0.69800	5.412436	0.999999962826747	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.42	5.42	0.78666	4.970000	0.63456	5.705000	0.49397	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	19.416	0.94691	856	0.34373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1923.98	35	chr8	76704578	.	G	A	1923.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.211e+00;DP=850;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.58;ReadPosRankSum=-4.970e-01;SOR=0.671	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	20	0	1	0
chr8	76707587	76707587	C	A	exonic	ZFHX4	.	nonsynonymous SNV	ZFHX4:NM_024721:exon3:c.C2632A:p.Q878K,	.	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.954	P	0.954	D	.	.	1.000	D	1.445	L	1.03	T	-0.821	T	0.214	T	0.406	2.037	12.77	5.18	2.705	7.651	18.884	0.205	0.00998791565084	.	.	6.619e-05	0	0	0	0	0	0	0.0005	4.53e-05	7	154602	rs779768832	1.729e-05	1.915e-05	1.097e-05	2.372e-05	0.0003	1.187e-05	1.003e-05	0.0002	0.0002	0	0	0	0	0	0	0	0	0.0003	6.58e-06	6.568e-06	0	1.348e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.035	0.43708	D	0.082	0.41573	T	.	.	.	.	.	.	.	.	.	.	0.999669	0.81001	D	.	.	.	1.03	0.40469	T	-2.65	0.56787	D	0.881	0.87917	-0.8208	0.53883	T	0.214	0.57534	T	9	0.30438387	0.47963	T	0.009988	0.25990	T	0.205	0.49236	0.464	0.53404	0.239312915715	0.23560	0.4167347759079498	0.41589	0.241060446744	0.26636	0.723388135433	0.70540	T	.	.	.	-0.269678	0.11792	T	-0.327591	0.41736	T	0.262780559436322	0.23436	T	0.824917	0.49436	T	.	.	.	.	.	.	.	.	-3.947	0.23008	T	.	.	0.336	0.55624	B	.;.	.;.	4.212798	0.63657	24.6	0.96328059462937421	0.29440	0.99113	0.91417	D	AEFDBHI	0.939784	0.94084	D	0.703204229005219	0.79844	7.164039	0.716719877899332	0.83649	8.077277	0.999999999814978	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.527494	0.11647	0	0.620846	0.47308	0	.	.	5.18	5.18	0.71140	7.905000	0.86479	7.736000	0.67890	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.884	0.92339	832	0.38914	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1403.98	33	chr8	76707587	.	C	A	1403.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=801;ExcessHet=0.0000;FS=8.310;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.12;ReadPosRankSum=0.749;SOR=0.214	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1132	20	0	1	0
chr8	76854540	76854540	T	C	exonic	ZFHX4	.	nonsynonymous SNV	ZFHX4:NM_024721:exon10:c.T7619C:p.F2540S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.971	D	0.97	D	0.000	U	1.000	D	2.175	M	0.45	T	-0.355	T	0.325	T	0.891	2.776	15.25	4.94	2.077	7.868	14.765	0.551	0.0911939629793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	.	.	.	.	.	.	0.000318	0.45977	U	0.000000	1	0.81001	D	.	.	.	0.39	0.57419	T	-5.49	0.85765	D	0.885	0.97961	-0.3547	0.73418	T	0.325	0.69367	T	10	0.83308166	0.82467	D	0.091194	0.75662	D	0.551	0.81427	.	.	0.295975759948	0.29207	0.544445944875155	0.54370	0.903739830431	0.70750	0.823280274868	0.85531	D	.	.	.	0.290988	0.82235	D	0.180207	0.82007	D	0.996355533599854	0.89175	D	0.89941	0.65783	D	.	.	.	.	.	.	.	.	-12.642	0.87835	D	.	.	.	.	.	.;.	.;.	4.630874	0.73628	26.0	0.99682587687309254	0.79373	0.96178	0.67892	D	AEFBCI	0.913932	0.87661	D	0.733439043900722	0.81826	7.613686	0.703539433864668	0.82648	7.819189	0.99999999999616	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.94	4.94	0.64645	8.017000	0.88732	7.957000	0.75973	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	14.765	0.69253	796	0.45353	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3160.98	280	chr8	76854540	.	T	C	3160.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.373e+00;DP=1348;ExcessHet=0.0000;FS=1.992;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-1.730e-01;SOR=0.577	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr8	76855922	76855922	G	A	exonic	ZFHX4	.	nonsynonymous SNV	ZFHX4:NM_024721:exon10:c.G9001A:p.G3001R,	.	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.999	D	0.966	D	0.001	U	0.996	D	0.52	N	0.83	T	-0.747	T	0.193	T	0.547	1.446	10.78	5.17	2.687	7.224	18.852	0.278	0.0219981506845	.	.	2.503e-05	0	8.699e-05	0	0	0	0	0.0001	1.94e-05	3	154602	rs772582651	2.053e-05	2.052e-05	9.53e-06	3.163e-05	0.0002	1.456e-05	1.264e-05	0.0001	0.0001	2.987e-05	0	0	0	0	0	9.894e-06	0	0.0002	1.972e-05	3.284e-05	2.569e-05	1.346e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.245	0.17940	T	0.027	0.55341	D	.	.	.	.	.	.	0.000545	0.43413	U	0.000000	0.995905	0.42915	D	.	.	.	0.78	0.49358	T	-2.72	0.57920	D	0.853	0.87157	-0.7474	0.58071	T	0.193	0.54535	T	10	0.7151177	0.73295	D	0.021998	0.44841	T	0.278	0.59497	.	.	0.110392049598	0.10638	0.3017617311930979	0.30089	0.737107187288	0.63034	0.697202265263	0.66740	T	.	.	.	-0.268438	0.11932	T	-0.323045	0.42240	T	0.661127150058746	0.38945	D	0.929607	0.81406	D	.	.	.	.	.	.	.	.	-11.8	0.83863	D	.	.	.	.	.	.;.	.;.	4.695074	0.75270	26.3	0.9916781079063175	0.54298	0.95047	0.63245	D	AEFGBCI	0.847136	0.76399	D	0.468687910771039	0.65273	4.801573	0.480634629173318	0.66706	4.987358	0.999999999356593	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.17	5.17	0.70848	6.312000	0.72804	8.768000	0.78236	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.327000	0.25133	0.0:0.0:1.0:0.0	18.852	0.92204	793	0.45818	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1638.98	39	chr8	76855922	.	G	A	1638.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.63;DP=1017;ExcessHet=0.0000;FS=1.315;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.93;ReadPosRankSum=0.627;SOR=0.569	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr8	76863213	76863215	CCT	-	exonic	ZFHX4	.	nonframeshift deletion	ZFHX4:NM_024721:exon11:c.9499_9501del:p.P3173del,	.	.	12	1504	5	0	1	6	0.00165948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0097	.	0.0070	0.0033	0.0071	0.0190	0.0004	0.0041	0.0229	0.0136	0.0001537	4	26028	rs199874527	0.0005	0.0039	0.0005	0.0006	0.0063	0.0005	0.0005	0.0057	0.0054	0.0006	0.0006	0.0005	0.0063	0.0003	0.0005	0.0002	0.0015	0.0019	0.0006	0.0006	0.0006	0.0006	0.0086	0.0005	0.0005	0.0066	0.0059	0.0006	0	0.0001	0	0.0086	0	0	0.0001	0	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1750.94	37	chr8	76863212	.	ACCT	A	1750.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.360;DP=817;ExcessHet=0.0000;FS=0.742;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.34;ReadPosRankSum=-4.760e-01;SOR=0.744	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1201	20	0	1	0
chr8	79765369	79765369	G	T	exonic	HEY1	.	nonsynonymous SNV	HEY1:NM_001282851:exon2:c.C464A:p.T155N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.302	B	0.055	B	0.000	D	1.000	D	1.795	L	0.57	T	-0.864	T	0.193	T	0.261	3.112	16.40	5.7	2.685	5.241	19.827	0.102	0.0130674806489	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1289917435	2.086e-06	2.052e-06	0	4.205e-06	3.589e-05	5.6e-07	1.5e-07	9.53e-06	4.64e-06	0	0	0	0	0	0	0	0	3.589e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.55530	D	0.113	0.41405	T	0.282	0.32608	B	0.051	0.25995	B	0.000387	0.44960	D	0.270896	0.999936	0.58761	D	2.005	0.54552	M	0.25	0.59449	T	-1.31	0.36586	N	0.285	0.47672	-0.8644	0.50944	T	0.193	0.54579	T	10	0.18049103	0.33236	T	0.013067	0.32181	T	0.102	0.29158	0.12	0.02719	0.294470080753	0.29051	0.5259029440075522	0.52514	0.824600543176	0.67326	0.620183467865	0.55755	T	0.404605	0.76102	T	-0.0519221	0.44154	T	-0.312359	0.43404	T	0.328567432834821	0.26167	T	0.89671	0.63922	D	0.28653693	0.51669	0.43119317	0.66745	0.28653693	0.51668	0.43119317	0.66745	-4.917	0.36215	T	.	.	0.125	0.45653	B	.;.;.	.;.;.	4.113847	0.61441	24.3	0.97844783684687975	0.36352	0.86170	0.45400	D	ALL	0.819877	0.74080	D	0.212973814190206	0.51829	3.361057	0.366071499883373	0.59483	4.126395	1.0	0.98316	0.443343	0.08805	1	0.374146	0.05931	1	0.666236	0.60216	0	0.241949	0.04745	2	.	.	5.7	5.7	0.88690	5.389000	0.66004	11.804000	0.96737	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.827	0.96617	918	0.19598	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	442.98	35	chr8	79765369	.	G	T	442.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.843e+00;DP=752;ExcessHet=0.0000;FS=3.467;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=0.585;SOR=1.577	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1109	20	0	1	0
chr8	80030106	80030106	C	G	exonic	MRPS28	.	nonsynonymous SNV	MRPS28:NM_014018:exon1:c.G143C:p.R48P,	.	.	429	1062	29	2	0	33	0.015299	.	.	2821158	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.34	T	0.004	B	0.005	B	0.961	N	1.000	N	0.975	L	0.82	T	-1.017	T	0.065	T	0.321	1.704	11.66	2.51	0.369	1.404	5.479	0.007	.	0.0080	0.00239617	0.0088	0.0023	0.0050	0	0.0116	0.0128	0.0117	0.0031	0.0080529	1245	154602	rs78308259	0.0094	0.0094	0.0093	0.0095	0.0163	0.0093	0.0092	0.0136	0.0126	0.0010	0.0050	0.0261	0	0.0083	0.0163	0.0102	0.0106	0.0029	0.0081	0.0081	0.0078	0.0084	0.0114	0.0077	0.0076	0.0108	0.0105	0.0019	0	0.0090	0.0225	0	0.0105	0.0204	0.0114	0.0110	0.0025	0.226	0.91255	T	0.281	0.92824	T	0.004	0.12183	B	0.005	0.11217	B	0.961380	0.08221	N	0.979032	1	0.18878	N	2.05	0.56469	M	0.82	0.48142	T	-0.56	0.93697	N	0.506	0.68863	-1.0168	0.24755	T	0.065	0.26843	T	10	0.004265368	0.00085	T	.	.	.	0.057	0.16321	.	.	0.488548280593	0.48485	0.5342502840895554	0.53350	0.584147767262	0.54101	0.396920323372	0.24641	T	0.004554	0.41509	T	-0.446829	0.01179	T	-0.403584	0.32968	T	0.0320554668673206	0.02315	T	0.748325	0.38135	T	0.11870633	0.27964	0.13364293	0.32043	0.11870633	0.27964	0.13364293	0.32042	-3.845	0.21478	T	.	.	0.127	0.47611	B	.;.	.;.	2.527780	0.32673	19.11	0.97958083176444199	0.37158	0.10285	0.15834	N	ALL	0.331395	0.43114	N	-0.9141218024309	0.10511	0.5026362	-0.881962277159462	0.12521	0.6445688	0.999999999993672	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.28	2.51	0.29435	0.938000	0.28562	2.058000	0.30379	-0.202000	0.08738	0.193000	0.24225	0.518000	0.25293	0.004000	0.06068	0.0:0.6604:0.1633:0.1763	5.479	0.16004	922	0.19044	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1273.98	34	chr8	80030106	.	C	G	1273.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.187e+00;DP=863;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.11;ReadPosRankSum=0.705;SOR=0.734	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr8	80486896	80486896	A	C	exonic	ZBTB10	.	nonsynonymous SNV	ZBTB10:NM_001105539:exon1:c.A86C:p.N29T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.334	B	0.044	B	.	.	1.000	N	0.345	N	2.69	T	-1.005	T	0.018	T	0.131	1.498	10.96	1.97	0.882	0.899	6.236	0.033	0.408681098997	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1031094591	3.666e-06	4.104e-06	4.339e-06	2.974e-06	0.0002	1.07e-06	7.8e-07	5.949e-05	3.824e-05	0	0.0002	0	0	0	0	0	0	0	6.616e-06	6.583e-06	0	1.354e-05	6.567e-05	0	0	.	.	0	0	6.567e-05	0	0	0	0	0	0	0	0.004	0.65419	D	0.562	0.09052	T	0.225	0.33305	B	0.02	0.24394	B	.	.	.	.	1	0.81001	D	0	0.06538	N	2.69	0.12780	T	-0.34	0.12661	N	0.178	0.46555	-1.0047	0.28547	T	0.018	0.07376	T	9	0.0774242	0.12217	T	0.408681	0.93551	D	0.033	0.08068	0.133	0.03747	0.043077524339	0.03247	0.0708846647495367	0.07025	1.65793547036	0.89633	0.918770313263	0.98228	D	0.005573	0.05022	T	-0.447559	0.01167	T	-0.625618	0.10749	T	0.165041752788535	0.18236	T	0.556544	0.19325	T	0.1238175	0.29065	0.12955898	0.31149	0.1238175	0.29064	0.12955898	0.31148	-4.383	0.29326	T	.	.	0.128	0.48240	B	.;.;.	.;.;.	2.522140	0.32594	19.09	0.96559550085068735	0.30254	0.31910	0.24455	N	ALL	0.075870	0.15248	N	-0.459627297981671	0.23415	1.257244	-0.387785754187871	0.25360	1.39417	0.999999839264869	0.74766	0.56387	0.32371	0	0.218748	0.04544	0	0.503968	0.08637	0	0.621717	0.48901	0	.	.	1.97	1.97	0.25278	1.913000	0.39587	10.127000	0.83216	0.493000	0.22426	0.999000	0.42656	1.000000	0.68203	0.997000	0.79791	0.7444:0.2556:0.0:0.0	6.236	0.19971	858	0.34001	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	321.98	39	chr8	80486896	.	A	C	321.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.084e+00;DP=694;ExcessHet=0.0000;FS=5.576;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.06;ReadPosRankSum=-1.654e+00;SOR=0.169	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,961	20	0	1	0
chr8	80487771	80487771	G	A	exonic	ZBTB10	.	nonsynonymous SNV	ZBTB10:NM_001105539:exon1:c.G961A:p.A321T	.	.	426	1090	6	0	0	6	0.00274474	.	.	2286256	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.465	P	0.085	B	0.002	N	1.000	D	0	N	2.83	T	-0.980	T	0.013	T	0.193	3.834	19.47	3.07	2.331	2.315	7.882	0.046	0.023083819208	0.0003	.	0.0004	0	0.0003	0	0	0.0006	0.0012	0.0002	0.0003428	53	154602	rs199498627	0.0003	0.0003	0.0003	0.0003	0.0035	0.0003	0.0002	0.0023	0.0020	6.079e-05	0.0005	0.0002	0	1.925e-05	0.0035	0.0003	0.0004	0.0001	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	2.408e-05	0	0.0003	0.0003	0	0	0.0034	0.0003	0	0	0.012	0.54683	D	0.12	0.35970	T	0.335	0.36447	B	0.039	0.29395	B	0.001635	0.38439	N	0.163511	0.963535	0.81001	D	0.895	0.22405	L	2.83	0.10771	T	-0.62	0.18248	N	0.133	0.18784	-0.9799	0.35025	T	0.013	0.04890	T	10	0.041588217	0.02828	T	0.023084	0.46030	T	0.046	0.12618	.	.	0.043077524339	0.03247	0.2678751814368218	0.26700	0.758373678255	0.64123	0.564892530441	0.47957	T	0.005771	0.05219	T	-0.460695	0.00973	T	-0.550102	0.17317	T	0.0412415952465101	0.03916	T	0.792121	0.46038	T	0.10225128	0.24160	0.16520828	0.38232	0.10225128	0.24160	0.16520828	0.38231	-3.713	0.19614	T	.	.	0.079	0.09530	B	.;.;.;.	.;.;.;.	3.513660	0.49220	22.7	0.99791807356341966	0.87750	0.79537	0.39432	D	AEFDBHCIJ	0.340273	0.43714	N	-0.0854991625437668	0.38028	2.221082	0.0764692463747094	0.43367	2.640003	0.999999861100274	0.74766	0.766844	0.99359	0	0.748881	0.99253	0	0.851219	0.99655	0	0.665054	0.64577	0	.	.	5.04	3.07	0.34476	2.474000	0.44812	6.997000	0.57182	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.3989:0.4589:0.1421	7.882	0.28790	861	0.33516	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1713.98	41	chr8	80487771	.	G	A	1713.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.560e-01;DP=882;ExcessHet=0.0000;FS=2.263;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=0.864;SOR=0.910	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1256	20	0	1	0
chr8	81444914	81444914	A	G	exonic	PMP2	.	nonsynonymous SNV	PMP2:NM_002677:exon2:c.T149C:p.I50T,	.	YES	433	1060	28	1	0	30	0.0139535	.	.	723190	not_provided|PMP2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	0.936	P	0.903	P	0.000	D	1.000	D	2.94	M	0.9	T	-0.403	T	0.236	T	0.179	4.738	26.4	5.68	2.164	5.049	15.933	0.332	.	0.0083	0.00439297	0.0068	0.0023	0.0076	0	0.0032	0.0099	0.0033	0.0016	0.0017076	264	154602	rs113226355	0.0084	0.0084	0.0085	0.0082	0.0195	0.0082	0.0082	0.0165	0.0154	0.0019	0.0096	0.0036	0	0.0046	0.0195	0.0096	0.0076	0.0016	0.0066	0.0066	0.0070	0.0063	0.0122	0.0063	0.0062	0.0108	0.0102	0.0018	0.0121	0.0122	0.0043	0	0.0043	0.0204	0.0093	0.0118	0.0027	0.001	0.78490	D	0.025	0.56192	D	0.936	0.52359	P	0.903	0.64103	P	0.000003	0.62929	D	0.130177	1	0.81001	D	3.275	0.90144	M	0.9	0.45248	T	-3.65	0.69950	D	0.528	0.55713	-0.4030	0.71932	T	0.236	0.60270	T	10	0.009934604	0.00223	T	.	.	.	0.332	0.65424	.	.	0.619705228755	0.61662	0.7832517119530348	0.78276	0.326856496752	0.34824	0.620928049088	0.55861	T	0.174099	0.52320	T	-0.467784	0.00878	T	-0.43304	0.29589	T	0.040061720592216	0.03702	T	0.753225	0.37546	T	0.76351094	0.81661	0.7340191	0.84281	0.79412234	0.83534	0.7340191	0.84282	-5.736	0.44013	T	0.5385803871172179	0.60852	0.464	0.62912	A	.	.	4.132459	0.61850	24.4	0.99849032492043188	0.92838	0.97802	0.77240	D	AEFI	0.645847	0.62159	D	0.718185779252264	0.80823	7.38083	0.670890889243755	0.80176	7.240721	0.999967983250319	0.48965	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.68	5.68	0.88021	4.212000	0.58311	9.089000	0.78739	0.691000	0.84096	0.853000	0.30494	0.999000	0.35428	0.989000	0.64315	1.0:0.0:0.0:0.0	15.933	0.79471	871	0.31377	Lipocalin/cytosolic fatty-acid binding domain	CHMP4C|CHMP4C|CHMP4C	Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	502.98	33	chr8	81444914	.	A	G	502.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.030e-01;DP=740;ExcessHet=0.0000;FS=2.917;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.37;ReadPosRankSum=0.083;SOR=1.230	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr8	81459310	81459310	G	A	exonic	FABP9	.	nonsynonymous SNV	FABP9:NM_001080526:exon2:c.C101T:p.A34V,	.	.	431	1077	13	1	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.895	P	0.000	D	0.737	D	2.135	M	2.99	T	-0.977	T	0.062	T	0.231	3.975	20.3	3.09	1.309	1.313	9.178	0.150	0.00498509379659	0.0005	0.00179712	0.0011	0	8.669e-05	0	0.0002	0.0004	0.0011	0.0063	0.0009638	149	154602	rs201617700	0.0009	0.0009	0.0007	0.0011	0.0066	0.0009	0.0008	0.0061	0.0059	0.0001	0.0001	0	0	5.667e-05	0.0025	0.0006	0.0009	0.0066	0.0010	0.0010	0.0009	0.0011	0.0077	0.0009	0.0008	0.0057	0.0050	7.219e-05	0.0648	6.541e-05	0	0	0	0.0034	0.0008	0.0005	0.0077	0.001	0.78490	D	0.003	0.76473	D	0.998	0.73220	D	0.895	0.63489	P	0.000017	0.62929	D	0.113007	0.736541	0.33776	D	2.855	0.82945	M	2.99	0.09262	T	-3.31	0.65972	D	0.278	0.31478	-0.9768	0.35727	T	0.062	0.25672	T	10	0.0060206056	0.00135	T	0.004985	0.12566	T	0.150	0.39571	.	.	0.366277470483	0.36239	0.6868447070464427	0.68624	0.0636817585115	0.07091	0.318048864603	0.13126	T	0.19422	0.54993	T	-0.522802	0.00424	T	-0.520856	0.20208	T	0.114186860807129	0.13852	T	0.810819	0.46223	T	0.6349538	0.74562	0.5074065	0.71531	0.6349538	0.74563	0.5074065	0.71531	-5.782	0.44417	T	.	.	0.278	0.51112	B	.	.	2.390257	0.30693	18.52	0.99844236439481659	0.92403	0.54468	0.29623	D	AEFBCI	0.185906	0.31322	N	0.0579870307428187	0.44511	2.72379	-0.135583945310088	0.33969	1.948726	0.96239563914729	0.28620	0.516011	0.20929	0	0.491513	0.07743	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	4.97	3.09	0.34677	1.060000	0.30139	2.227000	0.31499	0.676000	0.76740	0.296000	0.25288	0.969000	0.29651	0.003000	0.05239	0.0894:0.2216:0.6891:0.0	9.178	0.36284	882	0.29131	Lipocalin/cytosolic fatty-acid binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1214.98	128	chr8	81459310	.	G	A	1214.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.580e-01;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.49;ReadPosRankSum=-1.070e-01;SOR=0.675	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1249	20	0	1	0
chr8	81839844	81839844	T	C	exonic	SNX16	.	nonsynonymous SNV	SNX16:NM_152836:exon2:c.A143G:p.N48S	.	.	433	1069	19	1	0	21	0.00972673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.007	B	0.003	B	0.090	N	1.000	N	1.01	L	1.28	T	-0.984	T	0.064	T	0.045	-1.262	0.047	-1.15	-0.420	0.648	8.411	0.031	0.0113413342026	0.0029	0.00139776	0.0027	0.0003	0.0011	0.0002	0.0003	0.0030	0.0033	0.0064	0.0027296	422	154602	rs139939820	0.0040	0.0040	0.0039	0.0041	0.0074	0.0039	0.0039	0.0069	0.0067	0.0005	0.0015	0.0001	2.521e-05	0.0003	0.0047	0.0044	0.0031	0.0074	0.0025	0.0025	0.0027	0.0023	0.0066	0.0023	0.0022	0.0048	0.0042	0.0008	0.0077	0.0014	0	0	0.0004	0.0068	0.0041	0.0019	0.0066	0.152	0.28026	T	0.323	0.25670	T	0.007	0.14184	B	0.003	0.08700	B	0.090284	0.20383	N	0.538693	1	0.08975	N	1.1	0.28011	L	1.28	0.47130	T	0.01	0.45222	N	0.071	0.04426	-0.9841	0.34045	T	0.064	0.26597	T	10	0.0029803216	0.00048	T	0.011341	0.28865	T	0.031	0.07369	.	.	0.195762928549	0.19159	0.14476837161345818	0.14399	0.190157349264	0.21331	0.335265040398	0.15727	T	0.011008	0.09875	T	-0.647063	0.00075	T	-0.698233	0.05923	T	0.00515935459690777	0.00056	T	0.746125	0.36937	T	0.02540789	0.01476	0.039155558	0.03943	0.02540789	0.01476	0.039155558	0.03943	-2.104	0.03944	T	.	.	0.061	0.01408	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	0.237351	0.06179	2.628	0.26450479056718307	0.01267	0.14500	0.18435	N	AEBI	0.113747	0.22431	N	-1.47691906788553	0.02014	0.08847967	-1.43746023158868	0.02886	0.133584	0.999644785283981	0.41316	0.706298	0.61202	0	0.541556	0.11502	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.74	-1.15	0.09211	0.468000	0.21763	0.496000	0.18948	-1.517000	0.01009	0.079000	0.22314	0.983000	0.30585	0.694000	0.33958	0.0:0.1307:0.474:0.3953	8.411	0.31805	857	0.34089	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2703.11	104	chr8	81839844	.	T	C	2703.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.458;DP=923;ExcessHet=0.1072;FS=1.786;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=-2.800e-01;SOR=0.560	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1242	19	0	2	0
chr8	84920892	84920892	A	G	splicing	RALYL	NM_001354325:exon9:c.859-2A>G;NM_001354319:exon9:c.686-2A>G;NM_001354309:exon10:c.826-2A>G;NM_001100393:exon9:c.859-2A>G;NM_001100392:exon10:c.859-2A>G;NM_001287243:exon8:c.826-2A>G;NM_001354306:exon11:c.859-2A>G;NM_001354312:exon9:c.826-2A>G;NM_001354305:exon11:c.859-2A>G;NM_001354320:exon10:c.859-2A>G;NM_001354318:exon9:c.826-2A>G;NM_001354317:exon9:c.826-2A>G;NM_001354316:exon10:c.859-2A>G;NM_001354315:exon8:c.826-2A>G;NM_001354314:exon9:c.856-2A>G;NM_001354313:exon8:c.686-2A>G;NM_001354311:exon8:c.686-2A>G;NM_001354310:exon9:c.595-2A>G;NM_001354307:exon9:c.826-2A>G;NM_173848:exon9:c.859-2A>G;NM_001100391:exon9:c.898-2A>G;NM_001354322:exon7:c.692-2A>G;NM_001354321:exon8:c.865-2A>G;NM_001354323:exon8:c.725-2A>G;NM_001354308:exon10:c.859-2A>G;NM_001287244:exon8:c.640-2A>G	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.93	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.262	16.94	5.86	2.241	5.575	14.824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.049e-07	1.849e-05	0	1.626e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.942e-05	0	0	6.562e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278013	0.81147	D	0.16157	0.80903	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	6.446608	0.95225	34	0.99308632142468456	0.58906	0.96403	0.68967	D	AEFI	.	.	.	1.09413813926904	0.98025	17.25785	0.957962840819546	0.97635	16.47747	0.154133738971909	0.17489	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.948005	0.61418	5.86	5.86	0.93936	5.593000	0.67242	9.174000	0.79047	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	14.824	0.69723	933	0.16026	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	380.98	33	chr8	84920892	.	A	G	380.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.610e-01;DP=623;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.24;ReadPosRankSum=-9.100e-02;SOR=0.495	GT:AD:DP:GQ:PL	0/0:21,0:21:60:0,60,900	20	0	1	0
chr8	86064021	86064021	T	G	exonic	PSKH2	.	nonsynonymous SNV	PSKH2:NM_033126:exon2:c.A796C:p.S266R,	.	.	425	1040	55	2	0	59	0.027583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.91	P	0.821	P	.	.	1.000	N	1.78	L	0.94	T	-0.863	T	0.196	T	0.332	3.855	19.58	4.98	1.850	7.510	12.616	0.124	.	0.0030	0.00898562	0.0097	0.0015	0.0038	0.0001	0.0039	0.0050	0.0055	0.0453	0.0087192	1348	154602	rs34037815	0.0065	0.0065	0.0052	0.0078	0.0467	0.0064	0.0063	0.0455	0.0450	0.0015	0.0029	0.0110	0.0001	0.0031	0.0250	0.0038	0.0078	0.0467	0.0046	0.0046	0.0040	0.0053	0.0437	0.0043	0.0042	0.0389	0.0370	0.0012	0.0198	0.0041	0.0115	0	0.0037	0.0204	0.0040	0.0038	0.0437	0.001	0.78490	D	0.038	0.51421	D	0.91	0.50240	P	0.821	0.59116	P	.	.	.	.	0.962919	0.26046	N	2.2	0.62015	M	0.94	0.43672	T	-2.16	0.48850	N	0.319	0.35938	-0.8626	0.51075	T	0.196	0.55056	T	9	0.0032428503	0.00055	T	.	.	.	0.124	0.34239	0.192	0.10304	0.657976263744	0.65511	0.24922915946039909	0.24836	0.328627424964	0.34968	0.406651437283	0.25993	T	0.003406	0.02809	T	-0.442804	0.01245	T	-0.375977	0.36192	T	0.0261478254670413	0.01425	T	0.885811	0.61165	D	0.5636708	0.70712	0.586686	0.76028	0.5636708	0.70713	0.586686	0.76029	-6.148	0.47501	T	.	.	0.324	0.54782	B	.	.	3.875295	0.56290	23.7	0.99816952669844872	0.90061	0.97336	0.74107	D	AEFBIJ	0.878919	0.80449	D	0.570515308461417	0.71340	5.635989	0.553274389585351	0.71626	5.683463	0.999999998835541	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.98	4.98	0.65679	7.492000	0.80315	3.025000	0.36018	0.665000	0.62972	1.000000	0.71638	0.997000	0.33255	0.985000	0.61073	0.0:0.0:0.0:1.0	12.616	0.55934	487	0.76954	Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	3717.68	41	chr8	86064021	.	T	G	3717.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.072e+00;DP=1038;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=0.579;SOR=0.708	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1098	18	0	3	0
chr8	86069529	86069529	C	A	exonic	PSKH2	.	nonsynonymous SNV	PSKH2:NM_033126:exon1:c.G94T:p.A32S,	.	.	433	1086	3	0	0	3	0.00137931	.	.	2287670	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.64	T	0.05	B	0.015	B	.	.	1.000	N	0.895	L	-0.36	T	-1.014	T	0.139	T	0.221	0.501	6.717	1.29	0.118	-1.618	5.561	0.012	0.00781417017819	0.0004	.	0.0004	0	0.0002	0	0	0.0005	0	0.0004	0.0002458	38	154602	rs370079446	0.0004	0.0004	0.0004	0.0004	0.0016	0.0003	0.0003	0.0008	0.0006	5.994e-05	0.0001	0.0006	0	0	0.0016	0.0004	0.0005	0.0006	0.0004	0.0004	0.0003	0.0004	0.0006	0.0003	0.0003	0.0004	0.0004	0	0	0.0005	0.0006	0	0	0.0068	0.0006	0.0019	0.0002	0.45	0.08996	T	0.719	0.05363	T	0.05	0.22331	B	0.015	0.17295	B	.	.	.	.	1	0.08975	N	1.355	0.33814	L	-0.36	0.68754	T	0.29	0.04161	N	0.125	0.11769	-1.0138	0.25720	T	0.139	0.45753	T	9	0.027037501	0.00857	T	0.007814	0.20720	T	0.012	0.01476	.	.	0.542363599239	0.53890	0.130931263726795	0.13018	0.0635786863662	0.07079	0.431686460972	0.29438	T	0.001367	0.00832	T	-0.40937	0.02007	T	-0.471775	0.25325	T	0.0132677901670455	0.00237	T	0.284172	0.05010	T	0.028380096	0.02167	0.05842901	0.10794	0.028380096	0.02166	0.05842901	0.10793	-4.829	0.34928	T	.	.	0.084	0.09675	B	.	.	-0.370151	0.02327	0.249	0.84222390181320306	0.15166	0.02176	0.06375	N	AEFDBI	0.038866	0.05564	N	-1.10228149498985	0.06602	0.3044042	-1.12977796052051	0.07136	0.3459963	0.998769617888187	0.37623	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	4.22	1.29	0.20717	-1.669000	0.02060	-3.167000	0.03004	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.3435:0.4207:0.2358:0.0	5.561	0.16429	487	0.76954	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	636.98	39	chr8	86069529	.	C	A	636.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=671;ExcessHet=0.0000;FS=1.287;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.33;ReadPosRankSum=0.071;SOR=0.389	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,944	20	0	1	0
chr8	89784119	89784119	G	A	exonic	RIPK2	.	nonsynonymous SNV	RIPK2:NM_001375360:exon7:c.G598A:p.V200I	.	.	.	.	.	.	.	.	.	.	.	3319872	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.46	T	0.008	B	0.005	B	0.156	N	1.000	N	0.695	N	-1.19	T	-0.964	T	0.232	T	0.089	2.202	13.32	1.55	0.383	0.210	3.452	0.100	0.0153164916384	0.0004	.	0.0002	0.0002	0.0002	0	0	0.0003	0	0.0001	0.0001488	23	154602	rs199850869	0.0003	0.0003	0.0004	0.0003	0.0026	0.0003	0.0003	0.0012	0.0009	0.0006	0.0002	6.18e-05	0	0	0.0026	0.0004	0.0006	8.071e-05	0.0003	0.0003	0.0004	0.0002	0.0007	0.0003	0.0002	0.0003	0.0002	0.0004	0	0.0007	0	0	0	0.0128	0.0003	0.0021	0	0.119	0.28026	T	0.481	0.11864	T	0.008	0.14655	B	0.005	0.11217	B	0.156452	0.17799	N	0.405345	0.999904	0.20103	N	0.805	0.20218	L	-1.19	0.78427	T	-0.06	0.07882	N	0.059	0.03069	-0.9637	0.38468	T	0.232	0.59842	T	10	0.04045829	0.02617	T	0.015316	0.35983	T	0.100	0.28662	.	.	0.559688537222	0.55629	0.08190269040018158	0.08125	0.145579570331	0.16448	0.280264019966	0.07528	T	0.044519	0.26842	T	-0.342662	0.05205	T	-0.43105	0.29815	T	0.0187838992868907	0.00590	T	0.613939	0.23413	T	0.022896614	0.00986	0.03348614	0.02253	0.022896614	0.00986	0.03348614	0.02252	-4.348	0.28844	T	.	.	0.070	0.03301	B	.	.	1.825299	0.23195	15.92	0.97349709991146927	0.33515	0.78418	0.38685	D	AEFBI	0.077431	0.15601	N	-0.499580264547046	0.22094	1.177366	-0.349241070370784	0.26532	1.466139	0.0900979198632802	0.16101	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.73	1.55	0.22356	0.221000	0.17463	0.273000	0.16680	0.676000	0.76740	0.998000	0.41325	0.939000	0.28734	0.994000	0.71098	0.0786:0.2708:0.3728:0.2778	3.452	0.07071	908	0.22609	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	263.98	28	chr8	89784119	.	G	A	263.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.388e+00;DP=643;ExcessHet=0.0000;FS=8.232;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.25;ReadPosRankSum=-2.920e-01;SOR=0.691	GT:AD:DP:GQ:PL	0/0:29,0:29:50:0,50,798	20	0	1	0
chr8	89981417	89981417	G	A	exonic	NBN	.	nonsynonymous SNV	NBN:NM_002485:exon3:c.C278T:p.S93L	Aplastic anemia;Leukemia, acute lymphoblastic;Nijmegen breakage syndrome, Autosomal recessive	YES	5	1515	2	0	0	2	0.000659631	.	.	151941	Malignant_tumor_of_breast|Microcephaly,_normal_intelligence_and_immunodeficiency|Hereditary_cancer-predisposing_syndrome|not_provided|not_specified	MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260,Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.944	P	0.461	P	0.026	N	0.878	D	1.545	L	0.18	T	0.443	D	0.612	D	0.217	3.693	18.76	5.71	2.682	5.441	19.844	0.457	0.0811154088027	0.0003	0.000798722	0.0007	0	0.0003	0	0	0.0002	0.0011	0.0044	0.0006015	93	154602	rs12721593	0.0004	0.0004	0.0002	0.0005	0.0045	0.0004	0.0004	0.0042	0.0040	5.975e-05	8.944e-05	0	0	9.362e-05	0	0.0001	0.0002	0.0045	0.0002	0.0002	0.0001	0.0002	0.0039	0.0001	9.244e-05	0.0026	0.0021	2.41e-05	0	0	0	0	0	0	5.883e-05	0	0.0039	0.004	0.65419	D	0.041	0.56192	D	0.944	0.53183	P	0.461	0.46460	P	0.026024	0.25988	N	0.469798	0.878238	0.35697	D	2.02	0.55341	M	-2.34	0.87989	D	-3.08	0.67941	D	0.234	0.27197	0.443	0.89732	D	0.612	0.86267	D	10	0.013203561	0.00281	T	0.081115	0.73610	D	0.457	0.75551	.	.	0.951362630218	0.95084	0.3475136658926152	0.34665	0.111525478306	0.12590	0.354317069054	0.18556	T	0.372479	0.73665	T	-0.293759	0.09262	T	-0.194749	0.55143	T	0.102795711967771	0.12662	T	0.913209	0.70302	D	0.29610965	0.52554	0.45432168	0.68270	0.26362443	0.49428	0.41867685	0.65884	-11.508	0.82372	D	.	.	0.122	0.25882	B	.;.;.;.;.	.;.;.;.;.	4.124567	0.61670	24.4	0.99882310107774175	0.95813	0.90895	0.52464	D	AEFDBCI	0.668672	0.63637	D	0.436439098388469	0.63439	4.577505	0.468873688622854	0.65937	4.887405	0.999999999999903	0.74766	0.75658	0.98901	0	0.672317	0.65289	0	0.658983	0.55881	0	0.656636	0.63459	0	.	.	5.71	5.71	0.89031	7.172000	0.77164	6.514000	0.55815	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.326000	0.25110	0.0:0.0:1.0:0.0	19.844	0.96699	896	0.25515	Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain;.;Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.04762	2059.08	33	chr8	89981417	.	G	A	2059.08	.	AC=2;AF=0.048;AN=42;DP=752;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.28;SOR=1.352	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,994	20	1	0	0
chr8	90645732	90645732	-	GCTGCCGCCGCC	exonic	TMEM64	.	nonframeshift insertion	TMEM64:NM_001008495:exon1:c.173_174insGGCGGCGGCAGC:p.A61_S62insAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1294690554	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.354e-05	1.319e-05	2.639e-05	0	6.713e-05	2.25e-06	8.4e-07	.	.	2.445e-05	0	6.713e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	97.29	10	chr8	90645732	.	T	TGCTGCCGCCGCC	97.29	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.921;DP=182;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0453;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=-1.350e-01;SOR=1.270	GT:AD:DP:GQ:PL	0/0:6,0:6:18:0,18,212	20	0	1	0
chr8	91102708	91102708	C	T	exonic	LRRC69	.	nonsynonymous SNV	LRRC69:NM_001129890:exon1:c.C47T:p.T16M	.	.	426	1095	1	0	0	1	0.000456413	.	.	3287957	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.986	D	0.021	U	0.969	N	2.14	M	1.83	T	-0.794	T	0.244	T	0.666	1.912	12.35	5.11	2.826	3.303	14.225	0.161	0.0121029598098	0.0004	.	0.0004	0	0	0	0	0.0003	0	0.0008	8.41e-05	13	154602	rs200429038	0.0006	0.0006	0.0006	0.0006	0.0007	0.0005	0.0005	0.0006	0.0006	3.166e-05	0.0002	0	2.799e-05	2.028e-05	0.0002	0.0006	0.0007	0.0007	0.0004	0.0004	0.0004	0.0003	0.0006	0.0003	0.0003	0.0004	0.0003	0.0002	0	0.0006	0	0	0	0	0.0005	0.0005	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.986	0.76916	D	0.021125	0.26895	U	0.238619	0.985654	0.25766	N	2.19	0.61577	M	0.97	0.42502	T	-6.0	0.89534	D	0.601	0.61933	-0.7945	0.55467	T	0.244	0.61237	T	10	0.08230716	0.13571	T	0.012103	0.30367	T	0.161	0.41658	.	.	0.28297238246	0.27903	0.09403433829477081	0.09335	.	.	0.542641878128	0.44819	T	0.01342	0.11608	T	-0.237781	0.15633	T	-0.197365	0.54896	T	0.183517166599199	0.19455	T	0.70443	0.31478	T	0.043376733	0.06748	0.05166775	0.08361	0.043376733	0.06748	0.05166775	0.08360	-4.409	0.38594	T	.	.	0.187	0.46994	B	.;.;.	.;.;.	4.494253	0.70227	25.5	0.93288493532219818	0.22995	0.81143	0.40610	D	AEFBI	0.135248	0.25552	N	0.666527240252165	0.77442	6.675471	0.632911598977493	0.77341	6.661167	0.942709049762566	0.27534	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.528226	0.09195	0	.	.	5.11	5.11	0.69188	3.315000	0.51661	4.678000	0.44308	0.599000	0.40250	0.961000	0.33663	0.999000	0.35428	0.993000	0.69303	0.0:1.0:0.0:0.0	14.225	0.65397	595	0.68488	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1632.98	36	chr8	91102708	.	C	T	1632.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.562;DP=833;ExcessHet=0.0000;FS=1.379;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=0.826;SOR=0.848	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1155	20	0	1	0
chr8	91200659	91200659	C	T	exonic	LRRC69	.	nonsynonymous SNV	LRRC69:NM_001354470:exon3:c.C332T:p.P111L	.	.	439	1082	1	0	0	1	0.000461894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.996	D	0.899	P	0.004	U	1.000	N	1.21	L	0.68	T	-0.935	T	0.179	T	0.19	0.935	8.810	2.3	0.173	0.651	3.778	0.048	0.0442043148582	.	0.000798722	0.0006	0	0	0	0	0	0	0.0017	0.00011	17	154602	rs540261033	0.0001	0.0001	5.95e-05	0.0002	0.0022	0.0001	9.573e-05	0.0019	0.0018	0	5.669e-05	0	0	0	0	2.863e-06	0.0001	0.0022	6.575e-05	6.565e-05	2.572e-05	0.0001	0.0021	3.519e-05	2.618e-05	0.0011	0.0009	0	0	0	0	0	0	0	0	0	0.0021	0.062	0.36912	T	0.269	0.32783	T	0.996	0.68779	D	0.899	0.63802	P	0.004269	0.33923	U	0.119868	1	0.08975	N	1.7	0.43825	L	0.68	0.54911	T	-2.65	0.56787	D	0.223	0.25006	-0.9346	0.43455	T	0.179	0.52551	T	10	0.009394288	0.00212	T	0.044204	0.61373	D	0.048	0.13305	.	.	0.395894371353	0.39203	0.06258977853780423	0.06198	.	.	0.277711957693	0.07176	T	0.023301	0.17808	T	-0.500468	0.00568	T	-0.49814	0.22540	T	0.0459561366222464	0.04775	T	0.544146	0.18565	T	0.02920461	0.02378	0.0337863	0.02332	0.02920461	0.02377	0.0337863	0.02332	-3.487	0.16251	T	.	.	0.095	0.15115	B	.;.	.;.	0.497828	0.08667	5.441	0.96902367050981852	0.31542	0.03732	0.09027	N	AEFI	0.075094	0.15070	N	-0.545204348876623	0.20633	1.089196	-0.657582998704498	0.18026	0.9611195	2.41585716777713E-5	0.03498	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.1	2.3	0.27735	0.677000	0.24942	-0.524000	0.08673	-0.224000	0.07868	0.002000	0.15269	0.000000	0.08366	0.011000	0.09372	0.1627:0.5704:0.176:0.0909	3.778	0.08190	771	0.49057	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2645.98	35	chr8	91200659	.	C	T	2645.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.598;DP=906;ExcessHet=0.0000;FS=0.507;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=2.56;SOR=0.733	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1184	20	0	1	0
chr8	91343424	91343424	G	A	exonic	SLC26A7	.	nonsynonymous SNV	SLC26A7:NM_001282357:exon9:c.G195A:p.M65I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.008	B	0.005	B	0.008	N	0.884	D	0.945	L	-2.93	D	0.162	D	0.604	D	0.295	3.173	16.62	4.09	1.501	3.782	12.867	0.337	0.0547059507034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.45393	D	0.301	0.20486	T	0.005	0.14655	B	0.005	0.11217	B	0.007817	0.31183	N	0.376195	0.88366	0.35803	D	1.5	0.37844	L	-2.93	0.91800	D	-1.81	0.42575	N	0.509	0.54496	0.162	0.85255	D	0.604	0.85919	D	10	0.4699203	0.59799	T	0.054706	0.65957	D	0.337	0.65913	0.641	0.77795	0.76689798617	0.76476	0.6822345640681267	0.68162	0.120734834091	0.13598	0.537148177624	0.44043	T	0.524812	0.83448	D	0.0412045	0.57204	T	-0.178589	0.56653	T	0.646983358988038	0.38334	D	0.737426	0.35417	T	0.41354498	0.61660	0.39694795	0.64323	0.41354498	0.61660	0.39694795	0.64323	-3.466	0.15959	T	.	.	0.552	0.66880	A	.;.;.;.;.	.;.;.;.;.	3.005497	0.40175	21.1	0.99301883417435632	0.58650	0.86501	0.45794	D	AEFCI	0.443887	0.50101	N	-0.103009196148543	0.37261	2.165325	0.0791229019967545	0.43499	2.650476	0.0119906165518572	0.12263	0.55562	0.30534	0	0.615948	0.52940	0	0.547309	0.15389	0	0.665031	0.64506	0	.	.	5.89	4.09	0.47038	3.872000	0.55798	8.582000	0.77650	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1332:0.0:0.8668:0.0	12.867	0.57334	776	0.48302	SLC26A/SulP transporter domain;SLC26A/SulP transporter domain;SLC26A/SulP transporter domain;SLC26A/SulP transporter domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3043.98	34	chr8	91343424	.	G	A	3043.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.040e-01;DP=892;ExcessHet=0.0000;FS=4.999;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.22;ReadPosRankSum=3.01;SOR=1.030	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1354	20	0	1	0
chr8	91362450	91362450	G	A	exonic	SLC26A7	.	nonsynonymous SNV	SLC26A7:NM_001282357:exon12:c.G509A:p.R170H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.998	D	0.000	D	0.999	D	0.805	L	-3.35	D	0.801	D	0.826	D	0.913	4.826	27.4	5.83	2.758	6.331	19.716	0.859	0.146364367818	.	.	.	.	.	.	.	.	.	.	.	.	.	rs916103823	8.222e-06	1.094e-05	6.817e-06	9.641e-06	8.981e-05	4.38e-06	3.46e-06	2.38e-05	1.259e-05	8.981e-05	0	0	0	0	0	6.304e-06	0	2.325e-05	1.314e-05	1.313e-05	1.286e-05	1.344e-05	0.0002	2.18e-06	8.2e-07	.	.	2.408e-05	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.88582	D	0.000001	0.84330	D	0.000000	0.999263	0.46490	D	0.975	0.24501	L	-3.36	0.94067	D	-3.39	0.66896	D	0.901	0.90590	0.801	0.94426	D	0.826	0.94161	D	10	0.93778235	0.93106	D	0.146364	0.82848	D	0.859	0.95691	0.786	0.90919	0.898846806572	0.89784	0.8000911256892506	0.79963	0.597061582168	0.54914	0.572023153305	0.48965	T	0.480761	0.80961	T	0.285588	0.81788	D	0.409119	0.92406	D	0.834410548210144	0.48877	D	0.89971	0.64861	D	0.603415	0.72874	0.5116639	0.71781	0.603415	0.72875	0.5116639	0.71781	-7.606	0.58353	D	.	.	0.186	0.40262	B	.;.;.;.;.	.;.;.;.;.	5.241669	0.87993	29.4	0.99935445540772794	0.99579	0.95888	0.66586	D	AEFDBI	0.661260	0.63154	D	0.686367166869007	0.78739	6.932695	0.73066880028303	0.84705	8.367745	0.968683051875875	0.29071	0.500041	0.20204	0	0.624306	0.53593	0	0.573888	0.23631	0	0.645665	0.59343	0	.	.	5.83	5.83	0.93059	6.580000	0.73930	8.497000	0.77347	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	19.716	0.96116	770	0.49152	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1695.98	34	chr8	91362450	.	G	A	1695.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.920e-01;DP=853;ExcessHet=0.0000;FS=1.244;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.47;ReadPosRankSum=-9.630e-01;SOR=0.584	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1419	20	0	1	0
chr8	93797346	93797346	G	A	exonic	TMEM67	.	nonsynonymous SNV	TMEM67:NM_153704:exon20:c.G1976A:p.R659Q	COACH syndrome, Autosomal recessive;Joubert syndrome 6, Autosomal recessive;Meckel syndrome 3, Autosomal recessive;Nephronophthisis 11, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	900155	Meckel_syndrome,_type_3|Joubert_syndrome_6|Nephronophthisis_11|TMEM67-related_disorder|Meckel-Gruber_syndrome|Familial_aplasia_of_the_vermis	MONDO:MONDO:0011821,MedGen:C1846357,OMIM:607361,Orphanet:564|MONDO:MONDO:0012539,MedGen:C1853153,OMIM:610688,Orphanet:475|MONDO:MONDO:0013302,MedGen:C3150796,OMIM:613550,Orphanet:84081|MedGen:CN239423|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.966	D	0.437	B	0.000	D	0.991	D	1.01	L	-4.16	D	0.605	D	0.776	D	0.254	2.821	15.39	5.62	2.651	5.076	9.850	0.392	0.109924779036	.	.	7.414e-05	0	0	0	0.0002	0	0	0.0005	6.47e-05	10	154602	rs769827614	6.567e-05	6.567e-05	3.267e-05	9.901e-05	0.0008	5.495e-05	5.107e-05	0.0007	0.0006	0	6.708e-05	0	0	7.488e-05	0	1.079e-05	8.279e-05	0.0008	3.944e-05	3.941e-05	1.285e-05	6.729e-05	0.0008	1.716e-05	1.13e-05	0.0003	0.0002	0	0	6.551e-05	0	0	0	0	1.47e-05	0	0.0008	0.364	0.12961	T	0.281	0.21612	T	0.928	0.51611	P	0.355	0.42984	B	0.000002	0.62929	D	0.054754	0.991202	0.41332	D	2.2	0.62015	M	-4.16	0.96826	D	-0.98	0.25986	N	0.252	0.28498	0.605	0.91967	D	0.776	0.92398	D	10	0.16559893	0.30948	T	0.109925	0.78710	D	0.392	0.70764	0.539	0.65018	0.996875303014	0.99684	0.33750916083640087	0.33663	0.450094232755	0.44782	0.470991700888	0.34817	T	0.48379	0.81137	T	-0.124816	0.32338	T	-0.0606881	0.66285	T	0.319966942071915	0.25821	T	0.940956	0.77922	D	0.10435788	0.24670	0.07053765	0.14999	0.10435788	0.24670	0.07053765	0.14998	-1.045	0.01050	T	0.3213642394647577	0.41949	0.091	0.13876	B	.;.	.;.	3.752322	0.53796	23.4	0.99642185181838117	0.76756	0.85055	0.44157	D	AEFBI	0.290866	0.40214	N	0.375371233391161	0.60090	4.194292	0.483913188794834	0.66925	5.015774	0.384559636209914	0.19991	0.651	0.46895	0	0.670034	0.63936	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.62	5.62	0.85714	5.107000	0.64439	6.686000	0.56326	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1568:0.0:0.8432:0.0	9.850	0.40217	579	0.69780	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	5351.98	35	chr8	93797346	.	G	A	5351.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=1202;ExcessHet=0.0000;FS=1.732;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.97;ReadPosRankSum=0.809;SOR=0.791	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1316	20	0	1	0
chr8	94372208	94372208	T	C	exonic	RAD54B	.	nonsynonymous SNV	RAD54B:NM_001205263:exon13:c.A2143G:p.I715V	Colon cancer, somatic;Lymphoma, non-Hodgkin, somatic	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.000	D	1.000	D	0.275	N	-2.38	D	-0.725	T	0.273	T	0.045	-0.446	1.929	3.14	0.970	2.526	5.582	0.229	0.0195149097962	0.0007	0.000798722	0.0009	0	0.0007	0	0.0003	0.0014	0.0023	0.0003	0.000815	126	154602	rs150017319	0.0008	0.0008	0.0008	0.0008	0.0021	0.0008	0.0007	0.0012	0.0009	3.006e-05	0.0004	0.0040	0	9.387e-05	0.0021	0.0009	0.0009	0.0002	0.0008	0.0008	0.0008	0.0008	0.0013	0.0007	0.0006	0.0009	0.0007	0.0002	0	0.0013	0.0055	0	0	0	0.0010	0.0014	0.0006	0.998	0.01934	T	0.868	0.03333	T	0.001	0.07471	B	0.001	0.04355	B	0.000200	0.48115	D	0.231727	0.996812	0.22893	N	0.345	0.11182	N	-2.38	0.88298	D	0.01	0.06868	N	0.125	0.13769	-0.7249	0.59220	T	0.273	0.64422	T	10	0.011298269	0.00248	T	0.019515	0.41904	T	0.229	0.52916	.	.	0.524063890018	0.52051	0.2412628639019956	0.24040	0.070625434938	0.07910	0.283097863197	0.07928	T	0.038798	0.24967	T	-0.431452	0.01453	T	-0.448875	0.27821	T	0.00702223614516556	0.00080	T	0.642236	0.25918	T	0.018454101	0.00367	0.025769943	0.00635	0.018454101	0.00366	0.025769943	0.00635	-3.222	0.12751	T	.	.	0.073	0.04640	B	.;.	.;.	1.500233	0.19289	14.19	0.43477681166239329	0.03276	0.67386	0.33414	D	AEFBI	0.078110	0.15754	N	-0.723481638166881	0.15363	0.7735746	-0.485776077356634	0.22545	1.225039	0.381955725440831	0.19969	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.65	3.14	0.35196	2.556000	0.45524	5.540000	0.48867	-0.115000	0.14600	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.3961:0.1143:0.0:0.4896	5.582	0.16540	702	0.57624	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	925.98	37	chr8	94372208	.	T	C	925.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.013e+00;DP=766;ExcessHet=0.0000;FS=1.771;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.89;ReadPosRankSum=-1.130e+00;SOR=0.495	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1082	20	0	1	0
chr8	94789792	94789792	G	A	exonic	DPY19L4	.	nonsynonymous SNV	DPY19L4:NM_181787:exon19:c.G2054A:p.R685Q,	.	.	472	1048	2	0	0	2	0.000953289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.6	P	0.066	B	0.000	N	1.000	D	2.305	M	0.53	T	-0.756	T	0.171	T	0.492	4.176	21.6	5.2	2.563	8.781	19.103	0.253	0.0186287246902	7.7e-05	0.000798722	0.0005	0	0.0002	0	0.0015	6.005e-05	0.0011	0.0025	0.0004075	63	154602	rs149041883	0.0003	0.0003	0.0002	0.0003	0.0024	0.0002	0.0002	0.0021	0.0020	0	0	0	0.0001	0.0021	0.0011	4.232e-05	0.0002	0.0024	0.0002	0.0002	0.0001	0.0003	0.0019	0.0002	0.0001	0.0010	0.0007	0	0	0	0	0	0.0020	0	2.943e-05	0	0.0019	0.0	0.91255	D	0.0	0.92824	D	0.6	0.39325	P	0.066	0.27432	B	0.000004	0.62929	N	0.060745	0.999973	0.53665	D	2.725	0.79712	M	0.53	0.55090	T	-2.17	0.49018	N	0.689	0.69474	-0.7560	0.57620	T	0.171	0.51213	T	10	0.034176975	0.01617	T	0.018629	0.40756	T	0.253	0.56294	.	.	0.477143196806	0.47344	0.7999606589087452	0.79950	0.275151034729	0.29997	0.532268285751	0.43354	T	0.028067	0.20413	T	-0.277251	0.10962	T	-0.177195	0.56782	T	0.207616881568724	0.20828	T	0.968103	0.88413	D	0.5326863	0.68983	0.51090944	0.71737	0.5326863	0.68984	0.51090944	0.71738	-6.532	0.50533	T	.	.	0.592	0.68566	P	.	.	4.720684	0.75937	26.4	0.99861628278904013	0.94002	0.98935	0.88849	D	AEFBI	0.827524	0.74680	D	0.439973514006127	0.63636	4.601279	0.529608548729441	0.69993	5.440022	0.999999893748646	0.74766	0.706548	0.73137	0	0.670034	0.63936	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	8.872000	0.91982	9.840000	0.81918	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.103	0.93264	407	0.82314	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1257.98	33	chr8	94789792	.	G	A	1257.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=798;ExcessHet=0.0000;FS=1.574;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=0.142;SOR=0.883	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1030	20	0	1	0
chr8	94836564	94836564	C	T	exonic	INTS8	.	nonsynonymous SNV	INTS8:NM_017864:exon7:c.C794T:p.S265F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.545	P	0.351	B	0.000	D	0.842	D	-0.345	N	.	.	-0.808	T	0.109	T	0.462	2.816	15.38	5.76	2.727	5.883	19.948	0.122	0.00903548216274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.25355	T	0.057	0.46406	T	0.32	0.32998	B	0.192	0.36449	B	0.000007	0.62929	D	0.148362	0.842433	0.35089	D	0.69	0.16971	N	.	.	.	-0.78	0.21644	N	0.468	0.50418	-0.8077	0.54689	T	0.109	0.39320	T	9	0.21193719	0.37638	T	0.009035	0.23774	T	0.184	0.45763	0.262	0.20631	0.043077524339	0.03247	0.23993426203904458	0.23907	0.448223445526	0.44658	0.435824006796	0.30006	T	0.041878	0.26000	T	0.00986505	0.53006	T	-0.223606	0.52388	T	0.78852242231369	0.45593	D	0.886111	0.61235	D	0.16472699	0.36699	0.14644372	0.34693	0.16472699	0.36698	0.14644372	0.34692	-6.445	0.49860	T	.	.	0.160	0.35435	B	.	.	3.493504	0.48838	22.7	0.98500401152548811	0.42216	0.96707	0.70511	D	AEFBI	0.714831	0.66718	D	0.136299403260501	0.48164	3.03219	0.337858985265805	0.57779	3.94505	0.999998773188217	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.76	5.76	0.90726	5.965000	0.70100	7.585000	0.61076	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.948	0.97191	424	0.81215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1534.98	36	chr8	94836564	.	C	T	1534.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.82;DP=771;ExcessHet=0.0000;FS=5.750;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.64;ReadPosRankSum=0.107;SOR=1.067	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1151	20	0	1	0
chr8	94873421	94873421	G	T	exonic	INTS8	.	nonsynonymous SNV	INTS8:NM_017864:exon22:c.G2581T:p.A861S,	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.573	P	0.164	B	0.000	D	1.000	D	1.5	L	1.41	T	-0.604	T	0.297	T	0.508	2.831	15.43	4.81	2.210	7.304	17.901	0.157	0.0179418987608	.	0.000399361	0.0003	0	8.637e-05	0	0	0	0	0.0023	0.000304	47	154602	rs564070999	0.0002	0.0002	9.257e-05	0.0002	0.0027	0.0001	0.0001	0.0024	0.0023	0	0	0	0	0	0	3.597e-06	0.0002	0.0027	9.849e-05	9.843e-05	3.855e-05	0.0002	0.0031	6.002e-05	4.876e-05	0.0019	0.0016	0	0	0	0	0	0	0	0	0	0.0031	0.051	0.39334	T	0.21	0.26714	T	0.573	0.38659	P	0.164	0.34953	B	0.000000	0.84330	D	0.051102	0.999996	0.58761	D	1.735	0.44892	L	1.41	0.33412	T	-1.24	0.31375	N	0.606	0.62357	-0.6039	0.64656	T	0.297	0.66867	T	10	0.022226006	0.00550	T	0.017942	0.39831	T	0.157	0.40909	0.669	0.80703	0.134007934775	0.12933	0.39667219647145885	0.39582	0.538583285751	0.51112	0.754647791386	0.75133	T	0.062903	0.32036	T	-0.3705	0.03569	T	-0.310522	0.43601	T	0.100393436577127	0.12401	T	0.931307	0.74459	D	0.5601348	0.70518	0.3270195	0.58603	0.5601348	0.70519	0.3270195	0.58602	-6.42	0.49665	T	0.5149042523789569	0.58809	0.131	0.28261	B	.	.	4.406130	0.68124	25.2	0.99063962737606204	0.51551	0.98644	0.85068	D	AEFBI	0.897742	0.84025	D	0.395264502767359	0.61165	4.313977	0.46363456737096	0.65597	4.843928	0.999996489204654	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.81	4.81	0.61401	7.414000	0.79329	11.764000	0.95697	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	17.901	0.88822	577	0.69927	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1655.98	37	chr8	94873421	.	G	T	1655.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.130e+00;DP=832;ExcessHet=0.0000;FS=2.207;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=-7.490e-01;SOR=0.714	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1181	20	0	1	0
chr8	96785313	96785313	T	C	exonic	CPQ	.	nonsynonymous SNV	CPQ:NM_016134:exon2:c.T416C:p.I139T,	.	.	428	1093	1	0	0	1	0.000457247	.	.	2697357	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.59	T	0.126	B	0.058	B	0.000	N	0.714	D	1.98	M	0.94	T	-0.902	T	0.119	T	0.268	1.181	9.804	4.19	0.968	5.713	11.447	0.131	0.0277897275645	.	.	5.18e-05	0.0001	0	0.0002	0	4.616e-05	0	0	3.88e-05	6	154602	rs751928165	3.506e-05	3.557e-05	3.553e-05	3.458e-05	0.0007	2.71e-05	2.45e-05	0.0002	0.0001	6.029e-05	9.113e-05	0	7.594e-05	0	0.0007	3.069e-05	0	4.663e-05	9.2e-05	9.193e-05	0.0001	6.726e-05	0.0005	5.528e-05	4.365e-05	0.0002	0.0002	2.413e-05	0	0.0005	0	0	0	0	8.821e-05	0	0	0.051	0.39334	T	0.059	0.45961	T	0.015	0.17086	B	0.04	0.23831	B	0.000296	0.46274	N	0.190597	0.714402	0.33551	D	2.92	0.84325	M	0.94	0.47130	T	-3.16	0.69118	D	0.475	0.51048	-0.9019	0.47792	T	0.119	0.41691	T	10	0.14677033	0.27821	T	0.02779	0.50556	D	0.131	0.35738	.	.	0.44898880988	0.44520	0.6868552556588416	0.68625	0.162086030771	0.18288	0.457745730877	0.33001	T	0.05795	0.39923	T	-0.327526	0.06300	T	-0.407921	0.32465	T	0.125634935451508	0.14972	T	0.953805	0.82399	D	0.12236945	0.28758	0.11085733	0.26734	0.12236945	0.28758	0.11085733	0.26734	-8.231	0.62633	D	.	.	0.065	0.01934	B	.;.	.;.	2.704177	0.35333	19.87	0.91398022004697488	0.20664	0.98587	0.84406	D	AEFI	0.759046	0.69750	D	-0.334253624773588	0.27855	1.53164	-0.21270278916179	0.31078	1.755564	0.998491563996648	0.37071	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.35	4.19	0.48645	5.706000	0.68016	1.547000	0.27267	-0.787000	0.03278	1.000000	0.71638	0.010000	0.20010	0.574000	0.30748	0.0:0.0712:0.0:0.9288	11.447	0.49376	910	0.22284	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1046.98	34	chr8	96785313	.	T	C	1046.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=768;ExcessHet=0.0000;FS=6.956;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.63;ReadPosRankSum=-1.113e+00;SOR=1.646	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,114,1710	20	0	1	0
chr8	97277493	97277493	C	T	exonic	TSPYL5	.	nonsynonymous SNV	TSPYL5:NM_033512:exon1:c.G352A:p.A118T,	.	.	423	1082	17	0	0	17	0.00779459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.0	B	0.0	B	0.083	N	1.000	N	0.28	N	2.22	T	-1.022	T	0.016	T	0.006	0.871	8.533	-3.35	-0.639	-2.322	1.645	0.010	.	0.0090	0.00419329	0.0105	0.0017	0.0074	0	0.0050	0.0155	0.0069	0.0023	0.0080077	1238	154602	rs118032326	0.0091	0.0090	0.0093	0.0090	0.0103	0.0090	0.0089	0.0102	0.0101	0.0012	0.0074	0.0126	7.754e-05	0.0050	0.0103	0.0103	0.0084	0.0020	0.0068	0.0068	0.0073	0.0063	0.0112	0.0065	0.0063	0.0105	0.0103	0.0017	0	0.0082	0.0115	0.0002	0.0024	0.0068	0.0112	0.0052	0.0012	0.063	0.36709	T	0.272	0.22223	T	0.0	0.02946	B	0.0	0.01387	B	0.082796	0.02372	N	2.452570	1	0.08975	N	0.295	0.10161	N	2.22	0.18248	T	-0.84	0.22944	N	0.015	0.00181	-1.0218	0.23129	T	0.016	0.06377	T	10	0.0042589307	0.00085	T	.	.	.	0.010	0.01040	.	.	0.117191471859	0.11215	0.2116028374169913	0.21076	0.584851860191	0.54147	0.550163447857	0.45881	T	0.007836	0.07220	T	-0.750872	0.00017	T	-0.840321	0.01094	T	0.00133939462641741	0.00013	T	0.29917	0.05580	T	0.049962588	0.08952	0.05529974	0.09676	0.049962588	0.08951	0.05529974	0.09675	-4.877	0.35476	T	.	.	0.065	0.02012	B	.	.	-1.086094	0.00657	0.018	0.95154290121206819	0.26292	0.00709	0.03002	N	AEFDBCI	0.023849	0.01388	N	-1.59739009891767	0.01277	0.05560215	-1.6371663934395	0.01444	0.06529281	0.999999713553289	0.74766	0.65757	0.49021	0	0.587265	0.34161	0	0.619478	0.44681	0	0.627883	0.49187	0	.	.	4.16	-3.35	0.04620	-3.863000	0.00391	-5.666000	0.01637	-1.075000	0.01584	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.1614:0.3902:0.1656:0.2828	1.645	0.02593	777	0.48198	.	.	.	.	.	rs118032326	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3243.11	50	chr8	97277493	.	C	T	3243.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.11;DP=1158;ExcessHet=0.1072;FS=1.560;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.13;ReadPosRankSum=0.184;SOR=0.572	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1096	19	0	2	0
chr8	97277784	97277784	C	A	exonic	TSPYL5	.	nonsynonymous SNV	TSPYL5:NM_033512:exon1:c.G61T:p.A21S,	.	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.332	B	0.073	B	0.172	N	1.000	N	0.145	N	2.14	T	-1.021	T	0.021	T	0.121	3.021	16.08	1.76	0.482	2.221	4.439	0.014	0.0116550159914	0.0022	0.00139776	0.0036	0.0010	0.0002	0	0.0006	0.0059	0.0019	0.0011	0.0026196	405	154602	rs79679520	0.0031	0.0030	0.0031	0.0030	0.0034	0.0030	0.0030	0.0033	0.0033	0.0006	0.0010	0.0090	0	0.0007	0.0033	0.0034	0.0030	0.0009	0.0019	0.0019	0.0021	0.0017	0.0030	0.0017	0.0016	0.0026	0.0025	0.0003	0	0.0019	0.0084	0	0.0005	0.0034	0.0030	0.0019	0.0006	0.015	0.52492	D	0.129	0.34837	T	0.332	0.33274	B	0.073	0.28123	B	0.172400	0.17337	N	0.423150	0.999614	0.20864	N	1.81	0.47622	L	2.14	0.19450	T	-0.51	0.15986	N	0.089	0.06720	-1.0210	0.23389	T	0.021	0.08963	T	10	0.0030022264	0.00049	T	0.011655	0.29486	T	0.014	0.01968	.	.	0.043077524339	0.03247	0.05926980246525203	0.05866	0.547968560912	0.51759	0.801004648209	0.82115	T	0.003461	0.02869	T	-0.571565	0.00217	T	-0.593798	0.13339	T	0.0120733095741057	0.00191	T	0.517348	0.16736	T	0.061813265	0.12843	0.05319737	0.08915	0.061813265	0.12843	0.05319737	0.08914	-4.018	0.24072	T	.	.	0.085	0.10062	B	.	.	2.946349	0.39190	20.9	0.98280294863242912	0.39852	0.63798	0.32202	D	AEFDBHCI	0.081295	0.16448	N	-0.479533344725586	0.22752	1.217109	-0.414135758995297	0.24581	1.346916	0.999999999360575	0.74766	0.65757	0.49021	0	0.484254	0.07192	0	0.619478	0.44681	0	0.372554	0.06265	0	.	.	3.6	1.76	0.23776	1.532000	0.35634	2.044000	0.30313	0.596000	0.33519	0.014000	0.18986	0.970000	0.29701	0.995000	0.73285	0.2196:0.663:0.0:0.1173	4.439	0.10990	777	0.48198	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	890.98	39	chr8	97277784	.	C	A	890.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=895;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.68;ReadPosRankSum=1.54;SOR=0.627	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr8	97644813	97644813	C	G	exonic	MTDH	.	nonsynonymous SNV	MTDH:NM_001363136:exon1:c.C307G:p.L103V	.	.	428	1070	24	0	0	24	0.0110906	.	.	2821187	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.55	T	0.0	B	0.001	B	0.175	N	1.000	N	-0.345	N	3.02	T	-0.967	T	0.008	T	0.107	0.350	5.899	1.11	0.326	0.286	7.943	0.047	.	0.0043	0.00738818	0.0069	0.0210	0.0073	0	0.0002	0.0052	0.0103	0.0120	0.0046442	718	154602	rs188271601	0.0032	0.0033	0.0029	0.0034	0.0247	0.0031	0.0031	0.0213	0.0201	0.0146	0.0066	0.0329	5.583e-05	0.0001	0.0247	0.0016	0.0076	0.0095	0.0076	0.0076	0.0074	0.0077	0.0151	0.0072	0.0071	0.0141	0.0138	0.0151	0.0286	0.0125	0.0308	0	0.0002	0.0308	0.0016	0.0147	0.0095	0.681	0.04575	T	0.36	0.16964	T	0.0	0.02946	B	0.001	0.04355	B	0.174788	0.03138	N	1.663720	1	0.08975	N	0.345	0.11182	N	3.02	0.08986	T	-0.09	0.08340	N	0.091	0.15609	-0.9668	0.37854	T	0.008	0.02968	T	10	0.0023199022	0.00034	T	.	.	.	0.047	0.12962	.	.	0.102598925029	0.09809	0.2996995600953209	0.29882	0.322598077182	0.34443	0.620029330254	0.55734	T	0.035859	0.23881	T	-0.678922	0.00049	T	-0.736325	0.04046	T	0.000958520930511474	0.00009	T	0.620138	0.23804	T	0.050336137	0.09078	0.054924123	0.09540	0.050336137	0.09078	0.054924123	0.09539	-2.068	0.03449	T	.	.	0.057	0.00693	B	.;.	.;.	1.173679	0.15638	11.99	0.80506263392743971	0.13235	0.01885	0.05793	N	AEFDBHCIJ	0.048066	0.08162	N	-0.964864361588228	0.09362	0.4427555	-0.871186278703871	0.12778	0.6593235	0.999999963040267	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.1	1.11	0.19640	0.205000	0.17154	0.523000	0.19181	0.549000	0.26987	0.001000	0.13787	0.050000	0.21810	0.577000	0.30821	0.0:0.5636:0.279:0.1574	7.943	0.29133	872	0.31118	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	313.98	30	chr8	97644813	.	C	G	313.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.842e+00;DP=691;ExcessHet=0.0000;FS=5.287;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.23;ReadPosRankSum=-1.580e-01;SOR=1.181	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1033	20	0	1	0
chr8	97930977	97930977	C	T	exonic	MATN2	.	nonsynonymous SNV	MATN2:NM_001317748:exon3:c.C167T:p.A56V	.	.	431	1005	81	5	0	91	0.0433127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.754	P	0.311	B	0.006	N	1.000	D	0.57	N	-1.14	T	-0.761	T	0.161	T	0.191	2.979	15.93	4.76	2.673	3.983	5.367	0.228	.	0.0024	0.00379393	0.0051	0.0007	0.0047	0	0.0011	0.0045	0.0214	0.0167	0.0044113	682	154602	rs138635803	0.0033	0.0033	0.0028	0.0038	0.0368	0.0032	0.0032	0.0328	0.0312	0.0008	0.0049	0.0187	2.522e-05	0.0008	0.0368	0.0020	0.0056	0.0157	0.0028	0.0028	0.0025	0.0031	0.0126	0.0026	0.0025	0.0101	0.0092	0.0003	0	0.0052	0.0213	0.0002	9.418e-05	0.0340	0.0025	0.0080	0.0126	0.256	0.17126	T	0.477	0.12704	T	0.363	0.37483	B	0.311	0.41430	B	0.006445	0.32025	N	0.220361	0.859202	0.81001	D	0.695	0.17993	N	-1.14	0.77843	T	1.46	0.00775	N	0.165	0.27197	-0.7608	0.57362	T	0.161	0.49681	T	10	0.01770696	0.00380	T	.	.	.	0.228	0.52768	.	.	0.836741868336	0.83518	0.530535038014803	0.52977	0.192949307211	0.21626	0.479947000742	0.36049	T	0.015811	0.13192	T	-0.398691	0.02362	T	-0.333144	0.41118	T	0.0253921043202583	0.01324	T	0.845515	0.52437	T	0.065625004	0.14045	0.07151575	0.15323	0.065625004	0.14044	0.07151575	0.15323	-1.29	0.01734	T	.	.	0.13	0.28377	B	.;.;.;.	.;.;.;.	2.482416	0.32012	18.91	0.9952394340556775	0.69407	0.61361	0.31462	D	AEFDBI	0.115443	0.22698	N	0.102348143987851	0.46573	2.895542	0.257965852461295	0.53105	3.481049	0.999999994929606	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.64	4.76	0.60189	4.001000	0.56758	3.327000	0.37595	0.545000	0.25583	1.000000	0.71638	0.998000	0.33993	0.996000	0.76049	0.0:0.729:0.0:0.271	5.367	0.15419	853	0.34956	.;von Willebrand factor, type A;.;von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1381.11	41	chr8	97930977	.	C	T	1381.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-6.730e-01;DP=803;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.71;ReadPosRankSum=-4.890e-01;SOR=0.755	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1290	19	0	2	0
chr8	98021213	98021213	G	A	exonic	MATN2	.	nonsynonymous SNV	MATN2:NM_001317748:exon12:c.G1705A:p.V569I	.	.	433	1047	41	1	0	43	0.0201217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.002	B	0.004	B	0.304	N	0.519	D	1.01	L	1.57	T	0.039	D	0.686	D	0.21	2.177	13.24	1.44	-0.022	-0.184	8.639	0.061	.	0.0083	0.00479233	0.0098	0.0012	0.0027	0.0001	0.0071	0.0121	0.0078	0.0168	0.0093336	1443	154602	rs61729731	0.0094	0.0094	0.0089	0.0099	0.0187	0.0093	0.0092	0.0180	0.0176	0.0016	0.0022	0.0129	0.0002	0.0081	0.0161	0.0095	0.0084	0.0187	0.0075	0.0075	0.0075	0.0074	0.0162	0.0071	0.0070	0.0133	0.0122	0.0012	0.0318	0.0024	0.0153	0.0012	0.0069	0.0068	0.0117	0.0066	0.0162	0.093	0.31532	T	0.1	0.48855	T	0.001	0.07471	B	0.003	0.08700	B	0.304241	0.14544	N	0.631691	0.519229	0.31883	D	0.205	0.09354	N	1.57	0.97317	T	-0.13	0.08971	N	0.082	0.10056	0.039	0.83023	D	0.686	0.89169	D	10	0.008711696	0.00197	T	.	.	.	0.061	0.17616	.	.	0.839547833385	0.83801	0.48597135079498666	0.48517	0.156403761486	0.17651	0.253704488277	0.04168	T	0.070677	0.34018	T	-0.301915	0.08479	T	-0.19152	0.55448	T	0.0017796205268481	0.00018	T	0.80472	0.47619	T	0.043093473	0.06656	0.066421196	0.13602	0.043093473	0.06656	0.066421196	0.13602	-3.801	0.28720	T	.	.	0.068	0.02797	B	.;.;.;.;.	.;.;.;.;.	0.994950	0.13731	10.27	0.97130447718080226	0.32495	0.32416	0.24580	N	AEFDGBI	0.396125	0.47272	N	-0.714072352227259	0.15626	0.7891043	-0.620722908807034	0.18961	1.015249	0.999960451823212	0.48965	0.706298	0.61202	0	0.491513	0.07743	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.7	1.44	0.21647	-0.450000	0.06877	-0.053000	0.12521	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.964000	0.52637	0.3342:0.0:0.6658:0.0	8.639	0.33130	818	0.41518	.;EGF-like calcium-binding domain|EGF-like domain;.;.;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1343.98	33	chr8	98021213	.	G	A	1343.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.500e-02;DP=830;ExcessHet=0.0000;FS=2.312;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=0.082;SOR=0.929	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1317	20	0	1	0
chr8	98089316	98089316	C	T	exonic	ERICH5	.	nonsynonymous SNV	ERICH5:NM_173549:exon2:c.C299T:p.S100F,	.	.	416	1084	21	1	0	23	0.0104975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.899	P	0.667	P	0.619	N	1.000	N	1.39	L	0.79	T	-1.006	T	0.115	T	0.187	2.561	14.52	2.86	0.673	1.252	7.861	0.060	.	0.0049	0.00319489	0.0043	0.0014	0.0028	0	0.0008	0.0065	0.0044	0.0019	0.0046118	713	154602	rs34144950	0.0061	0.0061	0.0061	0.0062	0.0106	0.0060	0.0060	0.0085	0.0077	0.0008	0.0032	3.826e-05	0	0.0011	0.0106	0.0073	0.0062	0.0017	0.0044	0.0044	0.0049	0.0039	0.0074	0.0042	0.0040	0.0069	0.0067	0.0009	0	0.0067	0.0003	0	0.0008	0.0068	0.0074	0.0052	0.0010	0.042	0.41637	D	0.036	0.52060	D	0.899	0.49514	P	0.667	0.53020	P	0.618651	0.10799	N	0.800473	1	0.08975	N	1.525	0.38595	L	0.79	0.49068	T	-3.78	0.71519	D	0.232	0.26111	-1.0065	0.28004	T	0.115	0.40875	T	10	0.008595943	0.00195	T	.	.	.	0.060	0.17295	.	.	0.332902724076	0.32905	0.035470728247831686	0.03494	0.159704334051	0.18023	.	.	.	0.048359	0.27994	T	-0.538225	0.00343	T	-0.536505	0.18641	T	0.0409072582646112	0.03854	T	0.555844	0.19272	T	0.110806584	0.26188	0.12128935	0.29265	0.110806584	0.26188	0.12128935	0.29265	-5.607	0.42856	T	.	.	0.142	0.31125	B	.	.	2.439666	0.31399	18.73	0.99440510548239747	0.64720	0.10520	0.16004	N	AEFDBI	0.106676	0.21277	N	-0.432944068937169	0.24322	1.312446	-0.593839667217455	0.19652	1.055397	0.014842906693891	0.12645	0.615465	0.37627	0	0.627178	0.54094	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	4.71	2.86	0.32427	1.611000	0.36490	1.097000	0.24034	-0.224000	0.07868	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	0.1849:0.6369:0.1782:0.0	7.861	0.28672	828	0.39726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1535.98	34	chr8	98089316	.	C	T	1535.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=812;ExcessHet=0.0000;FS=1.394;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=-3.820e-01;SOR=0.536	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1139	20	0	1	0
chr8	98089670	98089670	T	C	exonic	ERICH5	.	nonsynonymous SNV	ERICH5:NM_173549:exon2:c.T653C:p.L218P,	.	.	424	1096	2	0	0	2	0.000911577	.	.	2764306	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.32	T	0.016	B	0.024	B	0.668	N	0.998	N	-0.255	N	0.93	T	-1.022	T	0.039	T	0.128	2.408	14.01	-4.28	-0.553	-1.403	6.162	0.018	0.00821205620561	.	.	0.0001	0	0	0	0	0.0002	0	0.0003	9.7e-05	15	154602	rs767892396	5.951e-05	5.951e-05	4.084e-05	7.838e-05	0.0010	4.883e-05	4.561e-05	0.0005	0.0003	0	0	0.0010	0	0	0.0010	2.608e-05	9.934e-05	0.0002	5.914e-05	5.91e-05	3.854e-05	8.07e-05	5.879e-05	3.077e-05	2.21e-05	1.972e-05	1.124e-05	2.413e-05	0	0	0.0012	0	0	0	5.879e-05	0	0	0.149	0.24758	T	0.174	0.30045	T	0.016	0.17332	B	0.024	0.20255	B	0.667897	0.10368	N	0.806395	0.997878	0.22465	N	0.99	0.25021	L	0.93	0.44065	T	0.61	0.02480	N	0.079	0.05414	-1.0225	0.22899	T	0.039	0.16763	T	10	0.0121243	0.00262	T	0.008212	0.21750	T	0.018	0.03083	0.254	0.19378	0.0806252709748	0.07271	0.02879414515105489	0.02829	0.388138279371	0.40076	.	.	.	0.028318	0.20539	T	-0.489919	0.00650	T	-0.662076	0.08126	T	0.0304616427443796	0.02061	T	0.330167	0.06908	T	0.062627934	0.13102	0.102735676	0.24631	0.062627934	0.13102	0.102735676	0.24630	-5.09	0.37802	T	.	.	0.073	0.04477	B	.	.	0.790528	0.11611	8.198	0.94640785755255097	0.25237	0.00821	0.03316	N	AEFDBI	0.074184	0.14861	N	-1.25794662885391	0.04196	0.1889146	-1.27689781931562	0.04744	0.2245055	0.043108242516699	0.14555	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.05	-4.28	0.03475	-1.035000	0.03674	-8.695000	0.00928	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.746000	0.35646	0.1259:0.4293:0.0:0.4447	6.162	0.19586	828	0.39726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1138.98	34	chr8	98089670	.	T	C	1138.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=783;ExcessHet=0.0000;FS=3.809;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.12;ReadPosRankSum=0.478;SOR=0.859	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1139	20	0	1	0
chr8	98123347	98123347	G	A	exonic	POP1	.	nonsynonymous SNV	POP1:NM_001145860:exon2:c.G10A:p.A4T	Anauxetic dysplasia 2, Autosomal recessive	.	422	1090	9	1	0	11	0.00502054	.	.	736779	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	0.573	N	1.04	L	0.71	T	-0.388	T	0.283	T	0.591	3.984	20.4	4.87	2.425	4.532	15.626	0.149	.	0.0016	0.0061901	0.0059	0.0011	0.0007	0	0	0.0020	0.0078	0.0337	0.0051228	792	154602	rs145484648	0.0036	0.0036	0.0026	0.0045	0.0343	0.0035	0.0034	0.0332	0.0328	0.0003	4.474e-05	0.0094	2.521e-05	0.0002	0.0054	0.0015	0.0044	0.0343	0.0019	0.0019	0.0016	0.0023	0.0327	0.0017	0.0017	0.0285	0.0269	0.0005	0	6.539e-05	0.0095	0	9.436e-05	0	0.0012	0.0005	0.0327	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000004	0.62929	D	0.000000	0.573212	0.31161	N	2.695	0.78878	M	0.17	0.60485	T	-1.55	0.37566	N	0.489	0.52297	-0.3875	0.72420	T	0.283	0.65537	T	10	0.006253153	0.00141	T	.	.	.	0.149	0.39377	.	.	0.753700496871	0.75147	0.545649588371386	0.54490	0.715607625372	0.61963	0.76432621479	0.76574	T	0.030538	0.21626	T	-0.272539	0.11475	T	-0.138498	0.60248	T	0.0533092230267153	0.06073	T	0.817118	0.47377	T	0.4112562	0.61504	0.42909402	0.66602	0.35116738	0.57158	0.42909402	0.66602	-4.38	0.29285	T	.	.	0.663	0.76668	P	.;.;.	.;.;.	4.920543	0.81045	27.5	0.99900096677883032	0.97199	0.95124	0.63526	D	AEFBI	0.412080	0.48230	N	0.577566730686476	0.71777	5.702617	0.58000205385397	0.73508	5.981853	0.906125806415814	0.26223	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.87	4.87	0.62877	4.583000	0.60675	11.633000	0.93719	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	15.626	0.76609	865	0.32612	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	682.98	34	chr8	98123347	.	G	A	682.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.135e+00;DP=746;ExcessHet=0.0000;FS=1.065;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=-6.710e-01;SOR=0.477	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1084	20	0	1	0
chr8	98130133	98130133	G	A	exonic	POP1	.	nonsynonymous SNV	POP1:NM_001145860:exon5:c.G642A:p.M214I	Anauxetic dysplasia 2, Autosomal recessive	.	409	1109	4	0	0	4	0.00180018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.975	D	0.951	D	0.000	D	1.000	D	2.565	M	0.27	T	-0.262	T	0.410	T	0.836	5.263	33	5.81	2.746	9.756	17.879	0.519	0.0383313824867	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.104e-06	4.104e-06	2.722e-06	5.5e-06	0.0002	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.496e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.007	0.69154	D	0.975	0.58077	D	0.951	0.68939	D	0.000002	0.62929	D	0.053946	1	0.81001	D	2.915	0.84231	M	0.27	0.59176	T	-3.22	0.64939	D	0.92	0.92317	-0.2624	0.76022	T	0.410	0.75860	T	9	0.9536054	0.94708	D	0.038331	0.58156	D	0.519	0.79522	0.831	0.94042	0.730838485179	0.72844	0.832843327794715	0.83243	0.787039329555	0.65579	0.720499634743	0.70119	T	0.306345	0.67856	T	0.272022	0.80621	D	0.152965	0.80372	D	0.990122139453888	0.80339	D	0.938006	0.76748	D	0.7598254	0.81442	0.8057761	0.88633	0.7598254	0.81444	0.8057761	0.88633	-11.469	0.82168	D	.	.	0.699	0.73759	P	.;.	.;.	5.044327	0.83977	28.2	0.99776362867556223	0.86346	0.97622	0.75966	D	AEFBHCI	0.878104	0.80315	D	0.899679618636342	0.91743	11.04133	0.892362448265697	0.95230	13.42945	0.999999999999676	0.74766	0.743674	0.98306	0	0.724815	0.89359	0	0.630245	0.45026	0	0.635551	0.53088	0	.	.	5.81	5.81	0.92413	9.889000	0.98569	11.744000	0.95258	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.879	0.88750	902	0.24074	Pop1, N-terminal;Pop1, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1693.98	34	chr8	98130133	.	G	A	1693.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.440e-01;DP=831;ExcessHet=0.0000;FS=3.187;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.13;ReadPosRankSum=-6.480e-01;SOR=0.559	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1267	20	0	1	0
chr8	98428829	98428829	A	G	exonic	KCNS2	.	nonsynonymous SNV	KCNS2:NM_020697:exon2:c.A850G:p.T284A,	.	.	434	1081	7	0	0	7	0.00322729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.002	B	0.009	B	0.196	N	0.962	N	1.04	L	-4.9	D	0.135	D	0.830	D	0.09	0.576	7.112	1.04	0.321	3.059	11.891	0.317	0.0383959060489	0.0017	0.000798722	0.0015	0.0007	0.0015	0	0.0005	0.0022	0	0.0004	0.0014489	224	154602	rs143746607	0.0015	0.0015	0.0015	0.0015	0.0031	0.0014	0.0014	0.0020	0.0017	0.0003	0.0015	0.0072	0	0.0007	0.0031	0.0016	0.0014	0.0005	0.0010	0.0010	0.0011	0.0010	0.0014	0.0009	0.0008	0.0012	0.0011	0.0003	0	0.0010	0.0052	0	0.0006	0	0.0014	0.0024	0.0006	0.156	0.24090	T	0.733	0.05109	T	0.002	0.09854	B	0.009	0.14300	B	0.196323	0.16714	N	0.437127	0.999936	0.19363	N	0.55	0.14455	N	-4.9	0.98333	D	-1.07	0.27876	N	0.062	0.03392	0.135	0.84803	D	0.830	0.94306	D	10	0.009027362	0.00204	T	0.038396	0.58198	D	0.317	0.63904	.	.	0.422872527889	0.41901	0.4272986052999258	0.42646	0.576062634877	0.53571	0.472696214914	0.35051	T	0.577607	0.86117	D	-0.326721	0.06362	T	-0.248564	0.49959	T	0.00322929549386895	0.00034	T	0.828817	0.49341	T	0.08202101	0.18876	0.10772605	0.25938	0.08202101	0.18876	0.10772605	0.25937	-3.671	0.18891	T	.	.	0.091	0.15025	B	.;.	.;.	1.760666	0.22396	15.60	0.88352307094635474	0.17909	0.61300	0.31444	D	AEFDBCI	0.124044	0.23993	N	-0.500661127013996	0.22058	1.175221	-0.38737057423802	0.25372	1.394925	0.998820878825933	0.37755	0.59774	0.34471	0	0.578056	0.33634	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	5.83	1.04	0.19220	3.050000	0.49568	3.343000	0.37723	0.756000	0.94297	0.996000	0.39380	0.993000	0.31925	0.996000	0.76049	0.5916:0.0:0.0:0.4084	11.891	0.51908	906	0.23090	Ion transport domain;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2878.98	34	chr8	98428829	.	A	G	2878.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.510e-01;DP=912;ExcessHet=0.0000;FS=1.653;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=0.596;SOR=0.584	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1018	20	0	1	0
chr8	99431657	99431657	C	T	exonic	VPS13B	.	nonsynonymous SNV	VPS13B:NM_017890:exon22:c.C3203T:p.T1068I	Cohen syndrome, Autosomal recessive	.	26	1388	99	9	0	117	0.0404424	.	.	101741	Cohen_syndrome|not_provided|not_specified|Inborn_genetic_diseases	MONDO:MONDO:0008999,MedGen:C0265223,OMIM:216550,Orphanet:193|MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.52	T	0.998	D	0.994	D	0.000	D	1.000	D	0.695	N	0.86	T	-0.947	T	0.132	T	0.689	1.646	11.46	4.41	2.154	6.920	17.362	0.132	.	0.0072	0.0109824	0.0109	0.0008	0.0044	0	0.0148	0.0091	0.0111	0.0327	0.0100322	1551	154602	rs61753722	0.0095	0.0097	0.0086	0.0103	0.0343	0.0093	0.0093	0.0333	0.0329	0.0011	0.0047	0.0094	5.062e-05	0.0137	0.0169	0.0080	0.0105	0.0343	0.0079	0.0079	0.0073	0.0085	0.0369	0.0075	0.0074	0.0325	0.0308	0.0015	0	0.0097	0.0089	0	0.0144	0.0068	0.0090	0.0080	0.0369	0.512	0.07449	T	0.032	0.53426	D	0.986	0.73220	D	0.675	0.82059	P	0.000061	0.52346	D	0.119576	0.999974	0.53665	D	1.845	0.48678	L	0.86	0.46777	T	-0.17	0.09627	N	0.86	0.85660	-0.9469	0.41498	T	0.132	0.44445	T	10	0.006599039	0.00149	T	.	.	.	0.132	0.35948	.	.	.	.	0.6800081458423057	0.67939	0.418471938286	0.42436	0.671483159065	0.63049	T	0.064541	0.32460	T	-0.311535	0.07613	T	-0.1959	0.55035	T	0.0222896284915635	0.00942	T	0.922608	0.71859	D	0.13754597	0.31844	0.10258712	0.24592	0.16026063	0.35954	0.10172261	0.24361	-10.128	0.74675	D	0.7176318254602767	0.79844	0.43	0.61192	A	.;.	.;.	4.525006	0.70989	25.6	0.96223474640519524	0.29094	0.97800	0.77226	D	AEFBI	0.729958	0.67750	D	0.276721938933293	0.54972	3.661602	0.347429162778259	0.58353	4.005328	0.995571819947056	0.34201	0.638212	0.43195	0	0.633656	0.55848	0	0.653264	0.51672	0	0.645948	0.59608	0	.	.	4.41	4.41	0.52588	6.999000	0.76039	5.963000	0.51859	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.362	0.87243	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	675.98	36	chr8	99431657	.	C	T	675.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.205e+00;DP=754;ExcessHet=0.0000;FS=1.053;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=0.501;SOR=0.489	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr8	99778810	99778810	G	C	exonic	VPS13B	.	nonsynonymous SNV	VPS13B:NM_017890:exon42:c.G7633C:p.E2545Q	Cohen syndrome, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.996	D	0.922	D	0.000	D	1.000	D	1.845	L	-0.47	T	-0.100	T	0.447	T	0.38	4.549	24.6	4.57	1.285	7.252	13.736	0.247	0.0447452973275	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46910	D	0.022	0.57587	D	0.996	0.68779	D	0.922	0.65739	D	0.000014	0.62929	D	0.110781	0.999566	0.81001	D	2.33	0.66821	M	-0.47	0.70133	T	-1.21	0.30762	N	0.52	0.55019	-0.0999	0.80100	T	0.447	0.78276	T	10	0.43066174	0.57468	T	0.044745	0.61641	D	0.247	0.55478	0.343	0.33626	0.715729387031	0.71323	0.30561118976972984	0.30474	0.264670799846	0.29017	0.410044014454	0.26462	T	0.11535	0.43387	T	0.0349696	0.56383	T	-0.187545	0.55820	T	0.931605041027069	0.59708	D	0.856914	0.54589	D	0.20281625	0.42338	0.121299446	0.29268	0.20281625	0.42338	0.121299446	0.29267	-3.682	0.19052	T	0.8036494507847762	0.87992	0.199	0.43227	B	.;.	.;.	4.325895	0.66244	24.9	0.99784379108529142	0.87043	0.98899	0.88348	D	AEFBI	0.766816	0.70288	D	0.574594056980471	0.71590	5.674334	0.577485097829878	0.73330	5.952686	0.999996966036441	0.74766	0.638212	0.43195	0	0.633656	0.55848	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.44	4.57	0.55860	7.365000	0.78793	9.947000	0.82700	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0738:0.0:0.9262:0.0	13.736	0.62300	464	0.78488	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1811.98	34	chr8	99778810	.	G	C	1811.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.95;DP=861;ExcessHet=0.0000;FS=1.980;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.19;ReadPosRankSum=-4.640e-01;SOR=0.690	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1168	20	0	1	0
chr8	99818741	99818741	G	A	exonic	VPS13B	.	nonsynonymous SNV	VPS13B:NM_017890:exon47:c.G8549A:p.R2850K	Cohen syndrome, Autosomal recessive	.	1	1516	4	1	0	6	0.00197498	.	.	2796310	VPS13B-related_disorder	.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.32	T	0.003	B	0.005	B	0.003	N	1.000	D	0.55	N	-0.7	T	-0.958	T	0.197	T	0.158	2.031	12.75	3.87	0.357	3.866	15.036	0.133	0.0112950440421	.	.	2.484e-05	9.815e-05	0	0	0	1.504e-05	0	6.064e-05	1.94e-05	3	154602	rs751906148	2.531e-05	2.531e-05	2.042e-05	3.026e-05	0.0002	1.868e-05	1.631e-05	0.0001	0.0001	2.988e-05	0	0	0	0	0.0002	1.529e-05	1.656e-05	0.0002	1.973e-05	1.97e-05	1.285e-05	2.693e-05	6.551e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	0	0	6.551e-05	0	0	0	0	2.94e-05	0	0	0.454	0.09374	T	0.165	0.30926	T	0.003	0.11197	B	0.005	0.11217	B	0.002934	0.35704	N	0.285632	1	0.81001	D	1.725	0.44537	L	-0.7	0.72785	T	-1.13	0.29114	N	0.336	0.37717	-0.9577	0.39608	T	0.197	0.55201	T	10	0.1328797	0.25290	T	0.011295	0.28764	T	0.133	0.36157	0.522	0.62518	0.323886383625	0.31992	0.6874307471890634	0.68683	0.144044623495	0.16265	0.574445009232	0.49304	T	0.129786	0.45828	T	-0.2903	0.09606	T	-0.362624	0.37748	T	0.0451285131275654	0.04626	T	0.688231	0.29741	T	0.12239979	0.28764	0.096000284	0.22791	0.12239979	0.28764	0.096000284	0.22790	-3.509	0.16557	T	0.6273360532597373	0.69633	0.135	0.29283	B	.;.	.;.	3.190670	0.43345	21.7	0.93897413250219297	0.23925	0.91974	0.54667	D	AEFBHCI	0.482001	0.52305	N	-0.573175351434658	0.19762	1.03686	-0.363022705320634	0.26109	1.440057	0.102837951628802	0.16428	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.66	3.87	0.43823	3.959000	0.56451	7.659000	0.64126	-0.104000	0.15758	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1287:0.0:0.8713:0.0	15.036	0.71411	475	0.77788	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1025.98	35	chr8	99818741	.	G	A	1025.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=-7.620e-01;SOR=0.734	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1160	20	0	1	0
chr8	99832387	99832387	A	G	exonic	VPS13B	.	nonsynonymous SNV	VPS13B:NM_017890:exon52:c.A9424G:p.S3142G	Cohen syndrome, Autosomal recessive	.	72	1369	76	5	0	86	0.0304533	.	.	101771	not_provided|Cohen_syndrome|not_specified|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0008999,MedGen:C0265223,OMIM:216550,Orphanet:193|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.111	B	0.041	B	0.000	N	1.000	D	0.9	L	-0.5	T	-0.852	T	0.159	T	0.367	1.539	11.10	4.4	0.946	2.755	11.151	0.093	.	0.0043	0.00579073	0.0190	0.0017	0.0085	0	0.0162	0.0169	0.0288	0.0305	0.0056726	877	154602	rs113671330	0.0077	0.0072	0.0070	0.0085	0.0320	0.0076	0.0076	0.0276	0.0259	0.0017	0.0025	0.0206	6.41e-05	0.0038	0.0320	0.0067	0.0088	0.0259	0.0069	0.0066	0.0063	0.0076	0.0257	0.0065	0.0063	0.0215	0.0199	0.0012	0	0.0031	0.0255	0.0003	0.0064	0.0303	0.0084	0.0096	0.0257	0.293	0.15561	T	0.232	0.24987	T	0.111	0.26235	B	0.041	0.23986	B	0.000053	0.53742	N	0.157724	0.957555	0.81001	D	0.995	0.25082	L	-0.5	0.70597	T	-1.9	0.44284	N	0.276	0.33687	-0.8517	0.51850	T	0.159	0.49296	T	10	0.0035758317	0.00065	T	.	.	.	0.093	0.26882	.	.	0.653813299475	0.65093	0.2101324214411371	0.20929	0.158005701542	0.17844	0.340887725353	0.16572	T	0.11923	0.44060	T	-0.369077	0.03641	T	-0.280618	0.46741	T	0.0234115201300916	0.01073	T	0.616038	0.23564	T	0.15742865	0.35473	0.14939047	0.35274	0.17221728	0.37900	0.14939047	0.35273	-2.926	0.09406	T	0.7913050563428241	0.86969	0.077	0.06387	B	.;.	.;.	2.110446	0.26858	17.26	0.9592728960765865	0.28206	0.94451	0.61208	D	AEFBI	0.198077	0.32496	N	-0.180351885292511	0.33954	1.932295	-0.0107343764997269	0.39228	2.322809	0.852320626362985	0.25068	0.615465	0.37627	0	0.596877	0.49441	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.55	4.4	0.52402	2.811000	0.47685	2.651000	0.33816	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	0.992000	0.67800	0.9283:0.0:0.0717:0.0	11.151	0.47683	473	0.77910	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1793.98	40	chr8	99832387	.	A	G	1793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.263e+00;DP=1496;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=-1.362e+00;SOR=0.738	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr8	99832589	99832589	A	G	exonic	VPS13B	.	nonsynonymous SNV	VPS13B:NM_017890:exon52:c.A9626G:p.E3209G	Cohen syndrome, Autosomal recessive	.	1	1517	4	0	0	4	0.00131666	.	.	195099	not_specified|Cohen_syndrome|Inborn_genetic_diseases|not_provided	MedGen:CN169374|MONDO:MONDO:0008999,MedGen:C0265223,OMIM:216550,Orphanet:193|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.877	P	0.339	B	0.000	D	1.000	D	1.795	L	-0.51	T	-0.411	T	0.303	T	0.615	3.164	16.58	5.62	2.133	8.548	15.834	0.295	0.0813262142029	.	.	8.25e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs772361332	1.3e-05	1.3e-05	1.225e-05	1.375e-05	0.0004	8.31e-06	6.7e-06	6.147e-05	2.542e-05	0	0	0	0	0	0.0004	1.169e-05	6.624e-05	0	6.579e-06	6.568e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.479	0.08609	T	0.015	0.61642	D	0.449	0.48223	B	0.154	0.42346	B	0.000021	0.62929	D	0.113071	0.999997	0.81001	D	2.175	0.60977	M	-0.51	0.70597	T	-1.19	0.30346	N	0.641	0.65330	-0.4114	0.71666	T	0.303	0.67437	T	10	0.5129478	0.62203	D	0.081326	0.73659	D	0.295	0.61502	0.292	0.25400	0.752235233162	0.74999	0.43273283452259526	0.43190	0.297577027821	0.32142	0.393261760473	0.24129	T	0.071056	0.34113	T	-0.00326752	0.51204	T	-0.134813	0.60564	T	0.785687267780304	0.45409	D	0.875612	0.58729	D	0.151594	0.34453	0.19103438	0.42540	0.151594	0.34453	0.19103438	0.42539	-2.561	0.06212	T	0.3351887635949958	0.43312	0.174	0.38516	B	.;.	.;.	4.089575	0.60902	24.3	0.99438598787388432	0.64621	0.98752	0.86398	D	AEFDBCIJ	0.884391	0.81405	D	0.435373937400864	0.63378	4.570457	0.530433067662456	0.70049	5.448189	0.999999999885341	0.74766	0.615465	0.37627	0	0.522029	0.08744	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.62	5.62	0.85714	8.256000	0.89785	11.309000	0.92418	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	15.834	0.78564	473	0.77910	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	4004.98	40	chr8	99832589	.	A	G	4004.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.661e+00;DP=1121;ExcessHet=0.0000;FS=1.938;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=-8.690e-01;SOR=0.574	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr8	100052975	100052975	C	T	exonic	RGS22	.	nonsynonymous SNV	RGS22:NM_001286693:exon8:c.G973A:p.A325T	.	.	426	1095	1	0	0	1	0.000456413	0.9669	0.824	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.989	D	0.836	P	0.008	N	0.961	D	1.935	M	-0.01	T	-0.255	T	0.373	T	0.282	4.917	28.4	5.13	2.532	5.088	18.953	0.144	0.146217585109	.	.	8.289e-06	0	0	0	0	1.5e-05	0	0	3.84e-05	1	26028	rs762970151	2.739e-06	2.736e-06	4.087e-06	1.376e-06	0.0003	6.4e-07	4.3e-07	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	1.8e-06	0	0	6.58e-06	6.568e-06	0	1.347e-05	.	0	0	.	.	0	0	0	0	0	9.454e-05	0	0	0	0	0.038	0.42783	D	0.023	0.59732	D	0.958	0.62824	D	0.613	0.59919	P	0.007899	0.31137	N	0.299613	0.960736	0.38196	D	2.2	0.62015	M	-0.01	0.62762	T	-1.8	0.44284	N	0.451	0.49328	-0.2546	0.76235	T	0.373	0.73152	T	10	0.46271083	0.59382	T	0.146218	0.82835	D	0.144	0.38394	0.343	0.33626	0.808025766547	0.80622	0.23353538562325485	0.23268	0.277734155041	0.30255	0.469844311476	0.34658	T	0.021354	0.29375	T	-0.0714225	0.41097	T	-0.34037	0.40303	T	0.92471045255661	0.58602	D	0.865613	0.56501	D	0.21932322	0.44462	0.21565525	0.46163	0.21932322	0.44462	0.21565525	0.46162	-8.583	0.64977	D	.	.	0.527	0.69840	A	.;.;.;.	.;.;.;.	4.971035	0.82265	27.7	0.9988317636233397	0.95892	0.94092	0.60088	D	AEFGI	0.702267	0.65869	D	0.61400081065182	0.74060	6.06888	0.620929162164556	0.76461	6.495417	0.952042116400554	0.27992	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.13	5.13	0.69729	5.192000	0.64953	7.612000	0.61951	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.953	0.92624	0	0.99858	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	682.98	33	chr8	100052975	.	C	T	682.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.92;DP=755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=0.555;SOR=0.861	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1222	20	0	1	0
chr8	100137646	100137646	A	T	exonic	FBXO43	.	nonsynonymous SNV	FBXO43:NM_001029860:exon3:c.T1593A:p.N531K,	.	.	657	859	1	5	0	11	0.00636206	.	.	2391372	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.961	D	0.36	B	0.026	N	0.842	D	1.445	L	0.63	T	-0.929	T	0.101	T	0.202	3.719	18.89	0.747	-0.031	0.589	10.622	0.065	0.0149192362661	.	.	0.0002	0	8.669e-05	0	0	9.033e-05	0	0.0008	0.0001358	21	154602	rs759048586	0.0001	0.0001	7.357e-05	0.0001	0.0011	9.476e-05	8.957e-05	0.0009	0.0008	2.991e-05	0	0	0	0	0.0009	4.409e-05	0.0002	0.0011	4.599e-05	4.597e-05	6.423e-05	2.69e-05	0.0006	2.109e-05	1.527e-05	0.0002	9e-05	0	0	0	0	0	0	0	5.88e-05	0	0.0006	0.037	0.43085	D	0.087	0.40747	T	0.792	0.44688	P	0.255	0.39216	B	0.026485	0.25911	N	0.464068	0.841823	0.35079	D	2.56	0.74772	M	0.63	0.53088	T	-2.47	0.53898	N	0.46	0.49692	-0.9293	0.44241	T	0.101	0.37417	T	10	0.10672566	0.19791	T	0.014919	0.35345	T	0.065	0.18881	0.389	0.41115	0.730967182232	0.72857	0.2843514943073435	0.28348	0.253366326615	0.27906	0.547137498856	0.45453	T	0.035125	0.23597	T	-0.437361	0.01340	T	-0.464395	0.26123	T	0.11268768920768	0.13701	T	0.687931	0.29705	T	0.11646189	0.27469	0.14810294	0.35022	0.11646189	0.27469	0.14810294	0.35021	-7.43	0.57116	T	.	.	0.530	0.65907	A	.	.	3.249242	0.44386	21.9	0.99768485723516431	0.85666	0.74910	0.36657	D	AEFDBI	0.272461	0.38809	N	-0.026882365640812	0.40641	2.416987	-0.0119717329308746	0.39174	2.318677	0.929346123174777	0.26965	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.76	0.747	0.17520	0.660000	0.24691	3.190000	0.36699	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.554:0.0:0.446:0.0	10.622	0.44675	0	0.99858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1355.98	35	chr8	100137646	.	A	T	1355.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=797;ExcessHet=0.0000;FS=4.469;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.30;ReadPosRankSum=-2.090e-01;SOR=0.682	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr8	100529590	100529590	G	C	exonic	ANKRD46	.	nonsynonymous SNV	ANKRD46:NM_001270377:exon3:c.C244G:p.L82V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.979	D	0.982	D	0.000	D	1.000	D	2.535	M	0.73	T	0.478	D	0.674	D	0.826	4.417	23.4	4.9	1.456	6.279	14.563	0.596	0.150005866971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0015	0.0001	0.0001	0.0002	9.864e-05	9.277e-05	0.0001	0.0001	0.0002	2.237e-05	7.67e-05	2.521e-05	0	0	0.0001	0.0001	4.648e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.007	0.70582	D	0.979	0.59044	D	0.982	0.75477	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.74	0.80084	M	-0.42	0.81559	T	-2.73	0.59226	D	0.725	0.78737	0.478	0.90229	D	0.674	0.88703	D	10	0.8767001	0.87427	D	0.150006	0.83175	D	0.596	0.83965	0.755	0.88484	0.890307275418	0.88922	0.8234338829086948	0.82300	1.55775025529	0.88002	0.872135579586	0.92873	D	0.101322	0.44326	T	0.308324	0.83617	D	0.205109	0.83403	D	0.974698483943939	0.70616	D	0.974603	0.93166	D	0.66677815	0.76261	0.63095033	0.78471	0.66677815	0.76262	0.63095033	0.78472	-7.09	0.54688	T	.	.	0.739	0.74650	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.979340	0.58488	24.0	0.99868500657537906	0.94637	0.91448	0.53554	D	AEFDGBCIJ	0.756888	0.69601	D	0.711921816677299	0.80415	7.288927	0.679696694225148	0.80838	7.389038	0.999999999994741	0.74766	0.732398	0.92422	0	0.723133	0.82719	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.78	4.9	0.63643	6.387000	0.73118	9.962000	0.82803	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0697:0.0:0.9303:0.0	14.563	0.67745	254	0.90023	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02632	57.73	60	chr8	100529590	.	G	C	57.73	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.680e+00;DP=1369;ExcessHet=0.0000;FS=401.173;InbreedingCoeff=-0.0506;MLEAC=1;MLEAF=0.026;MQ=60.00;MQRankSum=0.00;QD=0.54;ReadPosRankSum=1.42;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1291	18	0	1	2
chr8	100709595	100709595	C	T	exonic	PABPC1	.	nonsynonymous SNV	PABPC1:NM_002568:exon8:c.G1109A:p.R370H,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.94	D	0.000	D	1.000	D	2.62	M	3.32	T	-1.092	T	0.070	T	0.824	5.532	35	5.05	2.507	6.018	18.772	0.364	0.0327645234	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs777648449	6.841e-07	8.893e-06	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	0	6.566e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.006	0.72224	D	1.0	0.90584	D	0.94	0.67560	D	0.000011	0.62929	D	0.000000	1	0.81001	D	2.715	0.79425	M	3.32	0.06214	T	-4.63	0.79229	D	0.424	0.46368	-1.0924	0.05144	T	0.070	0.28642	T	10	0.48672563	0.60752	T	0.032765	0.54504	D	0.364	0.68407	0.52	0.62217	0.725504778507	0.72307	0.7257685634990524	0.72520	2.66104356415	0.98468	0.862830400467	0.91528	D	0.47555	0.80655	T	0.110	0.65310	D	-0.0803442	0.64879	T	0.998231470584869	0.93588	D	0.829317	0.49576	T	0.75585335	0.81209	0.50881344	0.71614	0.75585335	0.81211	0.50881344	0.71614	-11.389	0.81748	D	.	.	0.988	0.95290	P	.;.;.;.	.;.;.;.	5.326520	0.89396	30	0.9995309862779701	0.99957	0.94784	0.62318	D	AEFGBHCI	0.865084	0.78407	D	0.788574106191007	0.85383	8.56032	0.743644292049192	0.85682	8.65382	1.0	0.98316	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.05	5.05	0.67566	6.120000	0.71312	4.070000	0.41657	-0.177000	0.10537	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.772	0.91860	265	0.89590	RNA recognition motif domain;RNA recognition motif domain;RNA recognition motif domain;RNA recognition motif domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	51.98	152	chr8	100709595	.	C	T	51.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.196e+00;DP=2489;ExcessHet=0.0000;FS=4.129;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.38;MQRankSum=-6.612e+00;QD=0.26;ReadPosRankSum=-8.550e-01;SOR=0.362	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1146	20	0	1	0
chr8	102279179	102279179	A	G	exonic	UBR5	.	nonsynonymous SNV	UBR5:NM_001282873:exon43:c.T6031C:p.S2011P	.	.	435	1083	4	0	0	4	0.00184332	.	.	3195321	UBR5-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.0	B	0.0	B	0.000	D	1.000	D	-0.405	N	0.77	T	-1.076	T	0.038	T	0.129	1.959	12.51	3.03	1.093	0.796	7.753	0.089	0.00567735812683	0.0033	0.00139776	0.0030	0.0005	0.0003	0	0.0015	0.0048	0.0011	0.0017	0.0032147	497	154602	rs35794419	0.0043	0.0043	0.0044	0.0043	0.0052	0.0043	0.0042	0.0051	0.0050	0.0007	0.0007	3.826e-05	0	0.0019	0.0010	0.0052	0.0037	0.0026	0.0032	0.0032	0.0034	0.0029	0.0057	0.0029	0.0028	0.0053	0.0051	0.0011	0	0.0008	0	0	0.0015	0.0034	0.0057	0.0019	0.0027	0.144	0.25255	T	0.261	0.23029	T	0.0	0.02946	B	0.0	0.01387	B	0.000208	0.47681	D	0.184300	0.872854	0.35597	D	0.345	0.11182	N	0.77	0.49642	T	-1.04	0.27259	N	0.179	0.19325	-1.0759	0.08164	T	0.038	0.16591	T	10	0.0045380294	0.00094	T	0.005677	0.14712	T	0.089	0.25827	.	.	0.0675242888579	0.06100	0.2828771811287362	0.28200	0.862312818367	0.69017	0.466619044542	0.34217	T	0.162631	0.50738	T	-0.558489	0.00259	T	-0.565612	0.15854	T	0.0372322052717209	0.03197	T	0.871813	0.57812	D	0.09069317	0.21230	0.2186153	0.46570	0.09069317	0.21230	0.2186153	0.46569	-4.344	0.28789	T	.	.	0.067	0.02548	B	.;.;.	.;.;.	2.895210	0.38354	20.7	0.99115043232547562	0.52828	0.76011	0.37249	D	AEFBI	0.108417	0.21569	N	-0.438600136204214	0.24129	1.300646	-0.223044676450541	0.30712	1.731601	0.859853993737702	0.25204	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.78	3.03	0.34070	0.790000	0.26562	3.716000	0.39571	0.756000	0.94297	0.892000	0.31242	1.000000	0.68203	0.999000	0.91618	0.572:0.1:0.0:0.328	7.753	0.28072	934	0.15400	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1120.98	33	chr8	102279179	.	A	G	1120.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.267e+00;DP=765;ExcessHet=0.0000;FS=2.275;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.01;ReadPosRankSum=0.215;SOR=1.071	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1085	20	0	1	0
chr8	102311813	102311813	C	G	exonic	UBR5	.	nonsynonymous SNV	UBR5:NM_001282873:exon19:c.G2340C:p.Q780H	.	.	435	1083	4	0	0	4	0.00184332	.	.	2289927	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.98	D	0.948	D	0.000	D	1.000	D	1.7	L	0.71	T	-0.680	T	0.231	T	0.739	4.248	22.1	4.3	0.965	1.331	11.516	0.271	0.0272620199185	7.7e-05	.	0.0001	0	0.0002	0	0	8.998e-05	0	0.0004	9.7e-05	15	154602	rs144623404	7.798e-05	7.798e-05	6.126e-05	9.488e-05	0.0040	6.6e-05	6.142e-05	0.0027	0.0023	0.0001	4.472e-05	0	0	0	0.0040	3.507e-05	0.0002	0.0004	5.253e-05	5.25e-05	3.856e-05	6.714e-05	8.823e-05	2.556e-05	1.829e-05	3.763e-05	2.576e-05	4.811e-05	0	0	0	0	0	0	8.823e-05	0	0	0.003	0.68238	D	0.002	0.79402	D	0.98	0.59353	D	0.948	0.68536	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.795	0.47270	L	0.71	0.51228	T	-3.46	0.67705	D	0.753	0.75192	-0.6803	0.61359	T	0.231	0.59645	T	10	0.25924432	0.43361	T	0.027262	0.50089	D	0.271	0.58633	0.131	0.03577	0.271610670623	0.26767	0.6293734705372711	0.62871	1.6529612223	0.89572	0.843980908394	0.88701	D	0.660143	0.89791	D	-0.159411	0.26850	T	-0.144793	0.59701	T	0.463277578353882	0.31285	T	0.944805	0.79065	D	0.51434225	0.67933	0.44217333	0.67476	0.51434225	0.67934	0.44217333	0.67477	-4.598	0.32147	T	.	.	0.624	0.69844	P	.;.;.	.;.;.	3.590026	0.50659	23.0	0.99775881655259091	0.86346	0.96917	0.71647	D	AEFBI	0.463525	0.51240	N	0.445785957653447	0.63963	4.640761	0.416322353718167	0.62580	4.475985	0.999995423841038	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.42	4.3	0.50540	1.369000	0.33832	0.869000	0.22297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.8891:0.0:0.1109	11.516	0.49771	952	0.10565	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1017.98	35	chr8	102311813	.	C	G	1017.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.500e-02;DP=817;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.18;ReadPosRankSum=-1.622e+00;SOR=0.716	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr8	102560795	102560803	AGCCCCTGC	0	exonic	ODF1	.	.	.	.	.	430	603	23	0	466	489	0.0187144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	1772.07	37	chr8	102560795	.	AGCCCCTGC	A,*	1772.07	.	AC=1,8;AF=0.025,0.200;AN=40;BaseQRankSum=-7.460e-01;DP=2088;ExcessHet=5.0238;FS=4.266;InbreedingCoeff=-0.2250;MLEAC=1,8;MLEAF=0.025,0.200;MQ=60.00;MQRankSum=0.00;QD=1.43;ReadPosRankSum=1.05;SOR=1.000	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,48,0:116:99:0|1:102560795_AGCCCCTGC_A:1785,0,2710,1990,2855,4845:102560795	11	0	1	1
chr8	102560798	102560798	C	0	exonic	ODF1	.	.	.	.	.	436	601	16	0	469	485	0.0131363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	2579.11	37	chr8	102560798	.	C	A,*	2579.11	.	AC=2,8;AF=0.053,0.211;AN=38;BaseQRankSum=0.124;DP=2095;ExcessHet=6.5132;FS=3.341;InbreedingCoeff=-0.2972;MLEAC=2,9;MLEAF=0.053,0.237;MQ=60.00;MQRankSum=0.00;QD=1.88;ReadPosRankSum=-3.220e-01;SOR=0.968	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:121,0,0:121:0:.:.:0,0,729,0,729,729	9	0	2	2
chr8	102560804	102560814	AACCCGTGCAG	0	exonic	ODF1	.	.	.	.	.	433	610	23	0	456	479	0.0185036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	1772.07	37	chr8	102560804	.	AACCCGTGCAG	A,*	1772.07	.	AC=1,8;AF=0.025,0.200;AN=40;BaseQRankSum=-9.630e-01;DP=1919;ExcessHet=5.0238;FS=4.266;InbreedingCoeff=-0.2250;MLEAC=1,8;MLEAF=0.025,0.200;MQ=60.00;MQRankSum=0.00;QD=1.43;ReadPosRankSum=0.936;SOR=0.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,48,0:116:99:0|1:102560795_AGCCCCTGC_A:1785,0,2710,1990,2855,4845:102560795	11	0	1	1
chr8	103407655	103407655	G	T	exonic	SLC25A32	.	nonsynonymous SNV	SLC25A32:NM_030780:exon2:c.C284A:p.S95Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	1.425	L	-1.13	T	0.146	D	0.586	D	0.939	5.006	29.4	6.05	2.878	9.209	20.601	0.720	0.0814535959955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.922e-07	2.052e-06	0	1.391e-06	1.193e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.193e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.525	0.38595	L	-1.13	0.77719	T	-4.91	0.81595	D	0.85	0.84609	0.146	0.84994	D	0.586	0.85136	D	10	0.77523935	0.77405	D	0.081454	0.73685	D	0.720	0.90101	0.601	0.73226	0.959910426691	0.95948	0.9558615347823418	0.95571	1.18352259059	0.80076	0.842682242393	0.88503	D	0.419	0.77103	T	0.383882	0.88958	D	0.313643	0.88819	D	0.997229516506195	0.91055	D	0.953705	0.92740	D	0.7844398	0.82927	0.87983084	0.93550	0.7844398	0.82929	0.87983084	0.93550	-15.745	0.97354	D	0.5094422009341021	0.58341	0.986	0.92454	P	.;.	.;.	5.515153	0.91724	32	0.99531996772705678	0.69963	0.99122	0.91549	D	AEFDBI	0.895449	0.83548	D	0.867906317725755	0.90103	10.25409	0.89855948163482	0.95508	13.69057	1.0	0.98316	0.706298	0.61202	0	0.685571	0.66316	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	6.05	6.05	0.98156	9.332000	0.96418	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.601	0.99460	327	0.86637	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	611.98	40	chr8	103407655	.	G	T	611.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=732;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=0.366;SOR=0.709	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1140	20	0	1	0
chr8	103420402	103420402	A	G	exonic	DCAF13	.	nonsynonymous SNV	DCAF13:NM_015420:exon2:c.A209G:p.N70S,	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.064	B	0.038	B	0.000	D	0.999	D	-0.76	N	5.06	T	-1.087	T	0.071	T	0.104	1.633	11.42	4.09	0.833	4.850	11.148	0.045	0.0177484670439	0.0015	0.000199681	0.0014	0.0004	0.0005	0.0001	0.0008	0.0022	0.0011	0.0002	0.001423	220	154602	rs13272825	0.0017	0.0017	0.0018	0.0017	0.0021	0.0017	0.0016	0.0020	0.0020	0.0004	0.0005	0.0002	0.0002	0.0006	0.0012	0.0021	0.0017	0.0004	0.0010	0.0010	0.0011	0.0009	0.0017	0.0009	0.0008	0.0015	0.0014	0.0006	0	0.0003	0.0003	0	9.425e-05	0	0.0017	0.0014	0	0.503	0.07670	T	0.481	0.14075	T	0.064	0.23455	B	0.038	0.23361	B	0.000000	0.84330	D	0.090221	0.999311	0.46639	D	-1.03	0.01126	N	0.19	0.60236	T	0.04	0.06488	N	0.275	0.32370	-1.0872	0.06013	T	0.071	0.29066	T	10	0.01860571	0.00406	T	0.017748	0.39570	T	0.045	0.12272	.	.	0.529561333529	0.52604	0.4257326183448963	0.42490	0.0967568649598	0.10922	0.560001075268	0.47268	T	0.003746	0.03958	T	-0.49593	0.00603	T	-0.491621	0.23221	T	0.0212475976220162	0.00826	T	0.872513	0.71541	D	0.29449278	0.52406	0.23502992	0.48736	0.29449278	0.52406	0.23502992	0.48735	-4.587	0.36425	T	.	.	0.067	0.06341	B	.;.;.;.;.;.	.;.;.;.;.;.	1.486098	0.19121	14.10	0.94931024665374897	0.25816	0.94541	0.61500	D	AEFBI	0.573374	0.57658	D	-0.399219737703088	0.25497	1.384503	-0.159701770009637	0.33036	1.885619	0.99999607333064	0.74766	0.744818	0.98587	0	0.662677	0.63036	0	0.743671	0.96076	0	0.76194	0.99817	0	.	.	5.26	4.09	0.47038	4.840000	0.62513	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9272:0.0:0.0728:0.0	11.148	0.47667	339	0.86048	WD40-repeat-containing domain;WD40-repeat-containing domain;.;.;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1334.98	33	chr8	103420402	.	A	G	1334.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=958;ExcessHet=0.0000;FS=0.729;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=1.26;SOR=0.828	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr8	103885747	103885747	T	G	exonic	RIMS2	.	nonsynonymous SNV	RIMS2:NM_001282881:exon2:c.T572G:p.I191S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.611	P	0.205	B	.	.	1.000	D	0.69	N	1.24	T	-1.093	T	0.064	T	0.365	1.491	10.93	5.32	2.006	2.972	15.270	0.119	0.0100239672755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.736	0.23638	T	0.21	0.39680	B	0.135	0.37080	B	.	.	.	.	0.93962	0.37267	D	.	.	.	1.24	0.36691	T	-1.89	0.44094	N	0.492	0.52563	-1.0926	0.05112	T	0.064	0.26349	T	9	0.16081724	0.30181	T	0.010024	0.26057	T	0.119	0.33137	.	.	0.147330786459	0.14319	0.5272100905988095	0.52645	.	.	0.605789065361	0.53722	T	0.101904	0.42043	T	-0.096548	0.36995	T	-0.376461	0.36137	T	0.328784859055659	0.26175	T	0.965803	0.87368	D	.	.	.	.	.	.	.	.	-7.618	0.78095	D	.	.	0.202	0.56540	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.919571	0.38750	20.8	0.97736383541879346	0.35653	0.94500	0.61366	D	AEFGI	0.560591	0.56893	D	-0.0819399793727908	0.38185	2.232578	0.0937509466160836	0.44233	2.709071	0.97342121925125	0.29455	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.32	5.32	0.75377	2.421000	0.44343	.	.	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.270	0.73389	631	0.64944	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2225.98	37	chr8	103885747	.	T	G	2225.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.934;DP=855;ExcessHet=0.0000;FS=4.873;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.84;ReadPosRankSum=0.877;SOR=1.050	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1051	20	0	1	0
chr8	103989370	103989370	G	A	exonic	RIMS2	.	nonsynonymous SNV	RIMS2:NM_001282881:exon14:c.G2510A:p.R837Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.997	D	0.854	P	.	.	1.000	D	0.69	N	2.8	T	-1.127	T	0.073	T	0.596	4.220	21.9	5.54	2.617	4.935	19.070	0.075	0.0114575150279	.	.	0.0001	0.0001	0	0	0	0	0	0.0010	0.00011	17	154602	rs747545747	4.449e-05	4.515e-05	2.179e-05	6.741e-05	0.0007	3.577e-05	3.259e-05	0.0005	0.0005	5.978e-05	0	0	0	0	0	2.699e-06	1.657e-05	0.0007	6.572e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.17	0.47320	T	0.453	0.31026	T	0.997	0.70673	D	0.854	0.60866	P	.	.	.	.	0.968226	0.40530	D	.	.	.	2.2	0.18570	T	-0.89	0.24676	N	0.515	0.58458	-1.1272	0.01921	T	0.073	0.29610	T	9	0.08177492	0.13423	T	0.011458	0.29107	T	0.075	0.21907	.	.	0.206203607746	0.20212	0.48742031149914705	0.48662	.	.	0.594116032124	0.52074	T	0.086079	0.42485	T	-0.353261	0.04526	T	-0.340809	0.40252	T	0.206266835331917	0.20757	T	0.959304	0.85511	D	.	.	.	.	.	.	.	.	-11.587	0.82936	D	.	.	0.141	0.40408	B	.;.;.;.;.;.	.;.;.;.;.;.	4.970377	0.82252	27.7	0.99938773260916525	0.99734	0.93335	0.57942	D	AEFDI	0.585730	0.58404	D	0.334027552477766	0.57903	3.959602	0.436400597316209	0.63847	4.626956	0.996704636009597	0.34942	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.54	5.54	0.82907	5.451000	0.66375	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.070	0.93113	867	0.32089	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	541.98	34	chr8	103989370	.	G	A	541.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.010;DP=741;ExcessHet=0.0000;FS=1.043;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.51;ReadPosRankSum=-9.780e-01;SOR=0.473	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1295	20	0	1	0
chr8	103998243	103998243	G	A	exonic	RIMS2	.	nonsynonymous SNV	RIMS2:NM_001348499:exon15:c.G2479A:p.D827N	.	.	442	1047	32	1	0	34	0.0159774	.	.	2821222	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.48	T	0.328	B	0.178	B	.	.	1.000	D	0.55	N	2.77	T	-1.034	T	0.023	T	0.148	1.622	11.38	4.59	2.382	4.878	16.328	0.031	0.00636569129297	0.0034	0.00199681	0.0043	0.0011	0.0028	0	0.0047	0.0061	0.0067	0.0019	0.0040556	627	154602	rs182266368	0.0040	0.0041	0.0040	0.0041	0.0413	0.0039	0.0039	0.0370	0.0353	0.0015	0.0042	0.0158	0	0.0048	0.0413	0.0038	0.0055	0.0022	0.0035	0.0035	0.0036	0.0033	0.0045	0.0032	0.0031	0.0040	0.0039	0.0009	0	0.0040	0.0159	0	0.0037	0.0238	0.0045	0.0081	0.0010	0.468	0.10588	T	0.528	0.15554	T	0.328	0.33195	B	0.178	0.35748	B	.	.	.	.	1	0.81001	D	.	.	.	2.44	0.15843	T	0.16	0.05217	N	0.536	0.58798	-1.0343	0.19078	T	0.023	0.09604	T	9	0.005559504	0.00123	T	0.006366	0.16725	T	0.031	0.07369	.	.	0.200294437569	0.19612	.	.	.	.	.	.	.	0.059464	0.31122	T	-0.578152	0.00198	T	-0.599246	0.12875	T	0.0145750985717888	0.00299	T	0.913009	0.69301	D	.	.	.	.	.	.	.	.	-4.421	0.29840	T	.	.	0.105	0.29751	B	.;.;.;.	.;.;.;.	3.742474	0.53593	23.4	0.96533118320416411	0.30158	0.92319	0.55438	D	AEFI	0.647054	0.62237	D	-0.0542186269178862	0.39414	2.323939	0.117775738311659	0.45459	2.808616	0.772613454764295	0.23698	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.59	4.59	0.56297	4.990000	0.63609	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	16.328	0.82823	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1993.11	34	chr8	103998243	.	G	A	1993.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.310e-01;DP=847;ExcessHet=0.1072;FS=1.146;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.95;ReadPosRankSum=0.311;SOR=0.791	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	19	0	2	0
chr8	104014565	104014565	G	A	exonic	RIMS2	.	nonsynonymous SNV	RIMS2:NM_001348501:exon15:c.G2480A:p.R827Q	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.997	D	.	.	1.000	D	1.32	L	2.27	T	-0.519	T	0.297	T	0.787	4.759	26.7	5.63	2.652	9.175	19.685	0.376	0.0455701775502	.	.	8.354e-06	0	0	0	0	1.51e-05	0	0	1.29e-05	2	154602	rs752574736	1.848e-05	1.915e-05	8.172e-06	2.889e-05	2.989e-05	1.266e-05	1.085e-05	1.461e-05	1.227e-05	2.989e-05	0	0	0	0	0	2.159e-05	3.315e-05	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.0	0.91255	D	0.022	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	.	.	.	.	0.999986	0.58761	D	.	.	.	0.38	0.57575	T	-3.21	0.70793	D	0.774	0.78641	-0.5192	0.67944	T	0.297	0.66839	T	9	0.65121573	0.69614	D	0.04557	0.62042	D	0.376	0.69443	.	.	0.842765757162	0.84126	0.7287656776686123	0.72820	.	.	0.6451395154	0.59295	T	0.279988	0.66831	T	0.160048	0.70206	D	0.0557672	0.73963	D	0.937684428887407	0.60767	D	0.994226	0.98194	D	.	.	.	.	.	.	.	.	-12.166	0.85650	D	.	.	0.332	0.56825	B	.;.;.;.;.;.	.;.;.;.;.;.	5.488310	0.91455	32	0.99953993998528479	0.99963	0.98717	0.85956	D	AEFI	0.872259	0.79403	D	0.799852653974975	0.86095	8.777116	0.821190671424518	0.91225	10.78087	0.999999858273597	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.63	5.63	0.86108	9.102000	0.93579	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.685	0.95971	833	0.38804	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	753.98	33	chr8	104014565	.	G	A	753.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.081;DP=758;ExcessHet=0.0000;FS=2.021;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=0.063;SOR=0.687	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1147	20	0	1	0
chr8	104447451	104447451	T	-	exonic	DPYS	.	frameshift deletion	DPYS:NM_001385:exon3:c.476delA:p.K159Rfs*12,	Dihydropyrimidinuria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1056.94	34	chr8	104447450	.	CT	C	1056.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.96;DP=789;ExcessHet=0.0000;FS=0.852;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=-3.980e-01;SOR=0.636	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr8	105802243	105802243	T	C	exonic	ZFPM2	.	nonsynonymous SNV	ZFPM2:NM_001362836:exon7:c.T2002C:p.S668P	Diaphragmatic hernia 3;Tetralogy of Fallot, Autosomal dominant;46XY sex reversal 9, Autosomal dominant	.	0	225	1	0	0	1	0.00221729	.	.	2326897	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.98	T	0.165	B	0.135	B	0.000	D	0.969	D	-0.145	N	3.88	T	-1.044	T	0.024	T	0.572	1.364	10.49	5.72	2.186	3.565	9.907	0.165	0.00840533994355	.	.	3.338e-05	0	0	0	0	1.507e-05	0	0.0002	3.23e-05	5	154602	rs539832236	2.258e-05	2.257e-05	2.314e-05	2.201e-05	0.0003	1.61e-05	1.417e-05	6.092e-05	2.521e-05	0	6.712e-05	0	0	0	0.0003	1.889e-05	6.625e-05	3.478e-05	6.579e-06	6.57e-06	0	1.347e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.442	0.09209	T	0.252	0.24477	T	0.165	0.28508	B	0.135	0.33210	B	0.000001	0.84330	D	0.092877	0.968965	0.38696	D	0.55	0.14455	N	2.2	0.18570	T	1.36	0.00878	N	0.278	0.36989	-1.0439	0.16148	T	0.024	0.10013	T	10	0.10898802	0.20313	T	0.008405	0.22231	T	0.165	0.42395	0.169	0.07419	0.482446708537	0.47876	0.20971652242931074	0.20887	0.236243118388	0.26164	0.597998380661	0.52622	T	0.127305	0.45424	T	-0.270329	0.11719	T	-0.422486	0.30791	T	0.128579288721085	0.15250	T	0.847115	0.52772	T	0.21157627	0.43487	0.23560806	0.48809	0.21157627	0.43487	0.23560806	0.48808	-3.739	0.19895	T	.	.	0.118	0.47622	B	.;.;.	.;.;.	2.767675	0.36324	20.2	0.99278469370786238	0.57799	0.83609	0.42715	D	AEFBCI	0.672201	0.63868	D	-0.284026943631279	0.29765	1.653555	-0.0337036831713026	0.38202	2.247456	0.0204613510656986	0.13260	0.562547	0.31514	0	0.573888	0.26702	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.72	5.72	0.89380	3.546000	0.53409	5.144000	0.47724	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.2625:0.0:0.0:0.7375	9.907	0.40553	812	0.42537	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2893.98	34	chr8	105802243	.	T	C	2893.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.31;DP=1203;ExcessHet=0.0000;FS=3.788;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=0.328;SOR=0.663	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr8	106706468	106706468	G	A	exonic	OXR1	.	nonsynonymous SNV	OXR1:NM_181354:exon7:c.G926A:p.R309Q	.	.	438	1083	1	0	0	1	0.000461467	.	.	2233472	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.53	T	0.999	D	0.908	P	0.000	D	1.000	D	2.005	M	2.64	T	-1.055	T	0.146	T	0.599	3.965	20.3	5.98	2.847	5.388	20.456	0.181	0.0119289489426	0.0002	0.000599042	0.0002	9.621e-05	8.706e-05	0.0008	0	0.0001	0	0.0005	0.0002975	46	154602	rs144462912	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0005	0.0005	6.245e-05	2.601e-05	0	0.0006	0	0	6.504e-05	0.0007	0.0007	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0001	0.0011	0.0009	0.0003	0	0	0	0.0010	0	0	5.88e-05	0	0.0021	0.024	0.47745	D	0.106	0.39492	T	0.999	0.77913	D	0.894	0.64494	P	0.000102	0.50451	D	0.124622	0.99648	0.81001	D	2.695	0.78878	M	2.63	0.25841	T	-1.27	0.33798	N	0.117	0.15187	-1.0552	0.12987	T	0.146	0.46985	T	10	0.029653043	0.01092	T	0.011929	0.30037	T	0.181	0.45247	.	.	0.503744809241	0.50012	0.33825477972638224	0.33738	0.207007681812	0.23137	0.386832177639	0.23222	T	0.041258	0.25798	T	-0.335813	0.05684	T	-0.311496	0.43497	T	0.199253216385841	0.20374	T	0.933207	0.76978	D	0.1370212	0.31743	0.11507378	0.27778	0.1370212	0.31742	0.11507378	0.27778	-2.993	0.10763	T	.	.	0.090	0.14523	B	.;.;.;.;.	.;.;.;.;.	3.890906	0.56615	23.8	0.99950660863943219	0.99944	0.98588	0.84418	D	AEFBI	0.507712	0.53790	D	0.510286504180516	0.67696	5.116271	0.498564651943599	0.67894	5.145639	0.999998410534377	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.98	5.98	0.97147	1.361000	0.33740	4.587000	0.43943	0.618000	0.50648	0.112000	0.23030	1.000000	0.68203	0.870000	0.41412	0.0:0.0:1.0:0.0	20.456	0.99148	905	0.23532	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3100.08	93	chr8	106706468	.	G	A	3100.08	.	AC=2;AF=0.048;AN=42;DP=789;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.33;SOR=1.119	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1117	20	1	0	0
chr8	106706810	106706810	T	C	exonic	OXR1	.	nonsynonymous SNV	OXR1:NM_181354:exon7:c.T1268C:p.F423S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	0.063	B	0.055	B	0.571	N	1.000	N	1.04	L	2.87	T	-0.978	T	0.036	T	0.162	-0.447	1.928	3.28	0.406	-0.073	6.070	0.025	0.00853392848364	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.25768	T	0.532	0.10103	T	0.002	0.23376	B	0.005	0.25995	B	0.571347	0.05481	N	1.193000	1	0.08975	N	1.61	0.41143	L	2.86	0.20959	T	0.05	0.06369	N	0.03	0.01004	-0.9779	0.35481	T	0.036	0.15726	T	10	0.039369136	0.02422	T	0.008534	0.22557	T	0.025	0.05312	0.342	0.33464	0.214338557667	0.21045	0.20414310936132063	0.20331	0.174530894445	0.19656	0.259508758783	0.04833	T	0.013708	0.11803	T	-0.233545	0.16181	T	-0.573247	0.15152	T	0.0774800583284357	0.09662	T	0.833317	0.50212	T	0.07553255	0.17023	0.06047643	0.11525	0.07553255	0.17022	0.06047643	0.11524	-1.34	0.02109	T	.	.	0.071	0.07083	B	.;.;.;.;.	.;.;.;.;.	0.881362	0.12544	9.075	0.67860184251883593	0.08482	0.05908	0.11860	N	AEFBI	0.048762	0.08354	N	-0.940326402086316	0.09912	0.4712271	-0.884760440935278	0.12455	0.6407422	0.869493445534621	0.25386	0.719381	0.83141	0	0.723133	0.82719	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.76	3.28	0.36691	-0.090000	0.11129	-0.285000	0.10238	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.925000	0.46118	0.0:0.098:0.3024:0.5996	6.070	0.19109	898	0.25240	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1986.98	84	chr8	106706810	.	T	C	1986.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.734;DP=916;ExcessHet=0.0000;FS=1.195;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=0.749;SOR=0.799	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1117	20	0	1	0
chr8	106769856	106769856	G	A	exonic	ABRA	.	nonsynonymous SNV	ABRA:NM_139166:exon1:c.C335T:p.T112M,	.	.	431	1088	3	0	0	3	0.00137678	.	.	2359143	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.947	D	0.000	D	1.000	D	2.045	M	-3.21	D	0.932	D	0.870	D	0.544	3.763	19.11	5.18	1.538	7.582	17.241	0.586	0.213023845036	7.7e-05	.	7.413e-05	0.0004	8.637e-05	0.0001	0	4.495e-05	0	0	6.47e-05	10	154602	rs113926734	7.046e-05	7.046e-05	6.67e-05	7.425e-05	0.0005	5.913e-05	5.522e-05	0.0003	0.0002	0.0005	8.944e-05	0	0	0	0.0002	6.834e-05	8.279e-05	1.159e-05	0.0001	0.0001	0.0001	0.0001	0.0004	8.665e-05	7.257e-05	0.0003	0.0002	0.0004	0	0	0	0	0	0	4.41e-05	0	0	0.001	0.78490	D	0.053	0.47336	T	1.0	0.90584	D	0.947	0.68407	D	0.000000	0.84330	D	0.045225	0.999929	0.51308	D	2.75	0.80375	M	-3.21	0.93291	D	-2.0	0.46146	N	0.573	0.59563	0.932	0.96130	D	0.870	0.95691	D	10	0.58043617	0.65819	D	0.213024	0.87385	D	0.586	0.83416	.	.	0.993737720265	0.99366	0.41654390937028835	0.41570	0.389022359252	0.40154	0.408901184797	0.26305	T	0.239917	0.60814	T	-0.0388789	0.46116	T	0.0491077	0.73525	D	0.344168066978455	0.26789	T	0.889911	0.62289	D	0.26576874	0.49647	0.31125256	0.57132	0.26576874	0.49646	0.31125256	0.57131	-4.789	0.34463	T	.	.	0.137	0.29995	B	.	.	4.783572	0.77554	26.7	0.99897857875503826	0.97048	0.98922	0.88667	D	AEFDBI	0.926872	0.90865	D	0.697106997510344	0.79441	7.078549	0.66782984460086	0.79944	7.190869	0.999999990044651	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	6.07	5.18	0.71140	7.707000	0.83595	9.669000	0.81214	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.1258:0.8742:0.0	17.241	0.86897	641	0.64016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4231.98	34	chr8	106769856	.	G	A	4231.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.150e-01;DP=1086;ExcessHet=0.0000;FS=1.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.40;ReadPosRankSum=-1.589e+00;SOR=0.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:63,0:63:99:.:.:0,120,1800	20	0	1	0
chr8	109119069	109119069	G	C	exonic	TRHR	.	nonsynonymous SNV	TRHR:NM_003301:exon3:c.G811C:p.V271L,	Thyrotropin-releasing hormone resistance, generalized (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.874	P	0.666	P	0.000	D	1.000	D	2.75	M	-0.3	T	-0.135	T	0.460	T	0.892	5.288	33	6.07	2.890	7.930	19.641	0.491	0.0368772164942	.	0.000199681	8.239e-05	0	0	0	0	0	0	0.0006	7.12e-05	11	154602	rs556795929	1.643e-05	1.642e-05	1.226e-05	2.064e-05	0.0007	1.111e-05	9.34e-06	0.0002	0.0001	0	0	0	0	0	0.0007	0	0	0.0002	1.317e-05	1.313e-05	1.289e-05	1.347e-05	0.0004	2.19e-06	8.2e-07	7.304e-05	3.034e-05	0	0	0	0	0	0	0	0	0	0.0004	0.004	0.65419	D	0.061	0.45530	T	0.874	0.48047	P	0.666	0.52990	P	0.000004	0.62929	D	0.104830	1	0.81001	D	.	.	.	-0.3	0.67874	T	-2.78	0.58896	D	0.709	0.76853	-0.1347	0.79292	T	0.460	0.79038	T	10	0.5331758	0.63299	D	0.036877	0.57267	D	0.491	0.77783	0.624	0.75916	0.862410768355	0.86108	0.7458500230237926	0.74531	0.308317518436	0.33146	0.729915380478	0.71493	T	0.707063	0.91614	D	0.0903713	0.63232	D	0.214002	0.83873	D	0.439836354703644	0.30423	T	0.883212	0.60517	D	0.548173	0.69853	0.5468475	0.73804	0.548173	0.69854	0.5468475	0.73804	-7.214	0.55582	T	0.7201793324352515	0.80122	0.967	0.88983	P	.;.	.;.	4.818514	0.78455	26.9	0.9976915905847652	0.85750	0.98887	0.88185	D	AEFBI	0.928965	0.91399	D	0.80609942663729	0.86486	8.901023	0.827576992571101	0.91642	10.99122	0.999999999370263	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.07	6.07	0.98675	8.116000	0.89434	10.007000	0.83074	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.641	0.95751	640	0.64132	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1560.98	34	chr8	109119069	.	G	C	1560.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=846;ExcessHet=0.0000;FS=6.275;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.77;ReadPosRankSum=1.01;SOR=1.226	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1343	20	0	1	0
chr8	109245394	109245394	C	A	exonic	NUDCD1	.	nonsynonymous SNV	NUDCD1:NM_001128211:exon9:c.G1300T:p.A434S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.94	D	0.000	D	1.000	D	2.675	M	1.82	T	-0.730	T	0.188	T	0.778	5.490	35	5.42	2.559	7.365	18.218	0.373	0.017962604643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.036	0.56192	D	0.997	0.73220	D	0.931	0.66596	D	0.000000	0.84330	D	0.048143	0.999999	0.58761	D	3.06	0.86941	M	1.82	0.25182	T	-1.61	0.38734	N	0.784	0.78072	-0.7304	0.58943	T	0.188	0.53901	T	10	0.93525636	0.92857	D	0.017963	0.39858	T	0.373	0.69188	0.87	0.96319	0.530900991162	0.52739	0.7251941874226223	0.72463	0.26241307256	0.28800	0.631593823433	0.57371	T	0.09473	0.39475	T	0.115564	0.65923	D	-0.0717769	0.65499	T	0.987477540969849	0.77962	D	0.927907	0.73422	D	0.24236126	0.47163	0.21368662	0.45890	0.24236126	0.47163	0.21368662	0.45889	-8.885	0.66953	D	.	.	0.410	0.60144	A	.;.	.;.	4.657814	0.74315	26.1	0.99805355185191458	0.88995	0.98664	0.85307	D	AEFBI	0.878360	0.80358	D	0.859750999076382	0.89656	10.06216	0.823234035096937	0.91360	10.84729	0.999999991466174	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.42	5.42	0.78666	7.445000	0.79656	7.579000	0.60911	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.218	0.89828	668	0.61153	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3243.08	106	chr8	109245394	.	C	A	3243.08	.	AC=2;AF=0.048;AN=42;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.60;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1152	20	1	0	0
chr8	109389107	109389107	G	T	exonic	PKHD1L1	.	stopgain	PKHD1L1:NM_177531:exon8:c.G652T:p.G218X,	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	.	.	.	.	0.138	N	1.000	A	.	.	.	.	.	.	.	.	.	3.194	16.69	2.18	0.636	2.247	5.731	.	.	.	0.00119808	0.0009	0	0	0	0	4.497e-05	0	0.0062	0.0007374	114	154602	rs574569681	0.0003	0.0004	0.0002	0.0005	0.0054	0.0003	0.0003	0.0050	0.0049	0	0	0	0	0	0.0007	2.073e-05	0.0002	0.0054	0.0002	0.0002	0.0002	0.0002	0.0048	0.0001	0.0001	0.0033	0.0028	2.409e-05	0	0	0	0	0	0	5.883e-05	0	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	0.138045	0.18391	N	0.527164	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.277	0.31365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179258	0.71974	D	0.486496	0.94335	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.672273	0.96750	36	0.98528643686560979	0.42558	0.71689	0.35122	D	AEFBI	0.082631	0.16733	N	0.489436519222419	0.66469	4.954477	0.226895559879209	0.51344	3.317855	0.873602258201884	0.25469	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.4	2.18	0.26813	1.155000	0.31311	4.436000	0.43368	0.676000	0.76740	0.866000	0.30720	1.000000	0.68203	0.955000	0.50612	0.4578:0.0:0.5422:0.0	5.731	0.17309	706	0.57215	IPT domain|IPT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1209.98	33	chr8	109389107	.	G	T	1209.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.37;DP=822;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.91;MQRankSum=-1.229e+00;QD=8.96;ReadPosRankSum=0.473;SOR=0.660	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1226	20	0	1	0
chr8	109452281	109452281	G	A	splicing	PKHD1L1	NM_177531:exon42:c.6507+1G>A	.	.	.	.	431	1065	25	1	0	27	0.0125174	0.9999	0.92	779281	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.705	15.01	5.86	2.774	7.829	17.668	.	.	0.0079	0.00499201	0.0079	0.0035	0.0048	0	0.0014	0.0105	0.0067	0.0088	0.0078654	1216	154602	rs72687022	0.0097	0.0097	0.0097	0.0097	0.0220	0.0096	0.0095	0.0189	0.0177	0.0028	0.0066	0.0035	2.563e-05	0.0013	0.0220	0.0109	0.0103	0.0089	0.0069	0.0069	0.0080	0.0058	0.0108	0.0066	0.0064	0.0102	0.0099	0.0026	0.0209	0.0077	0.0023	0.0002	0.0008	0.0374	0.0108	0.0104	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.011008	0.50126	T	0.224385	0.84392	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.417902	0.90655	31	0.98811230320252463	0.46623	0.97911	0.78062	D	AEFI	.	.	.	1.09165194779639	0.97976	17.15447	0.918195175616818	0.96317	14.55232	0.999999999637216	0.74766	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.057018	0.00518	0	0.969385	0.71690	5.86	5.86	0.93936	7.930000	0.87066	11.814000	0.97026	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.255000	0.23391	0.0:0.0:1.0:0.0	17.668	0.88113	685	0.59416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1553.11	38	chr8	109452281	.	G	A	1553.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.44;DP=763;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.38;ReadPosRankSum=-1.539e+00;SOR=0.721	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1143	19	0	2	0
chr8	109481526	109481526	C	A	exonic	PKHD1L1	.	nonsynonymous SNV	PKHD1L1:NM_177531:exon56:c.C9421A:p.L3141I,	.	.	435	1067	19	1	0	21	0.00974478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.796	P	0.673	P	0.001	N	0.965	N	1.465	L	-2.45	D	-0.187	T	0.639	D	0.216	2.719	15.05	3.84	0.658	0.533	10.079	0.336	.	0.0005	0.00119808	0.0020	0	0.0002	0	0.0003	0.0013	0.0125	0.0072	0.001022	158	154602	rs200961934	0.0006	0.0007	0.0005	0.0008	0.0063	0.0006	0.0006	0.0059	0.0057	3.027e-05	0.0003	0.0048	2.555e-05	5.71e-05	0.0023	0.0002	0.0012	0.0063	0.0005	0.0005	0.0004	0.0006	0.0073	0.0004	0.0004	0.0054	0.0047	4.819e-05	0	0.0002	0.0069	0	0	0	0.0002	0	0.0073	0.055	0.38407	T	0.015	0.61642	D	0.796	0.44790	P	0.673	0.53214	P	0.001034	0.40562	N	0.163065	0.96501	0.25956	N	2.305	0.65957	M	-2.45	0.88847	D	-1.09	0.30140	N	0.398	0.43899	-0.1867	0.78011	T	0.639	0.87376	D	10	0.010953903	0.00242	T	.	.	.	0.336	0.65816	.	.	0.37953744168	0.37561	0.357325073503585	0.35646	0.0425447266547	0.04588	0.351900696754	0.18201	T	0.09838	0.40215	T	-0.350655	0.04686	T	-0.273022	0.47512	T	0.0827592919721143	0.10337	T	0.844016	0.52334	T	0.092409335	0.21679	0.12415299	0.29929	0.092409335	0.21679	0.12415299	0.29928	-4.579	0.31907	T	.	.	0.111	0.31355	B	.;.	.;.	3.288631	0.45089	22.1	0.98521739355580595	0.42471	0.77795	0.38293	D	AEFI	0.298106	0.40751	N	0.170842743986272	0.49802	3.176685	0.199191076164343	0.49802	3.179231	0.0104622321700928	0.12029	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.77	3.84	0.43422	0.576000	0.23446	3.321000	0.37545	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8208:0.0:0.1792	10.079	0.41552	604	0.67577	G8 domain|G8 domain|G8 domain;G8 domain|G8 domain|G8 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1853.11	41	chr8	109481526	.	C	A	1853.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.098e+00;DP=899;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.25;ReadPosRankSum=0.414;SOR=0.728	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	19	0	2	0
chr8	109553899	109553899	A	G	exonic	EBAG9	.	nonsynonymous SNV	EBAG9:NM_001278938:exon3:c.A118G:p.I40V	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.991	D	0.978	D	0.000	D	1.000	D	1.7	L	.	.	-0.679	T	0.266	T	0.474	2.990	15.97	4.41	1.050	8.532	11.030	0.203	0.00246852734255	.	.	8.264e-06	0	0	0	0	0	0	6.061e-05	6.5e-06	1	154602	rs748399467	6.86e-06	8.209e-06	5.459e-06	8.277e-06	0.0002	3.47e-06	2.53e-06	1.602e-05	9.43e-06	0	0	0	0	1.874e-05	0.0002	3.601e-06	0	4.721e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.722	0.91255	T	0.062	0.92824	T	0.991	0.64070	D	0.978	0.74104	D	0.000000	0.84330	D	0.000000	0.999986	0.54805	D	2.295	0.65404	M	.	.	.	-0.04	0.20145	N	0.427	0.47208	-0.6788	0.61428	T	0.266	0.63759	T	9	0.31623957	0.49047	T	0.002469	0.04896	T	0.203	0.48915	0.308	0.27967	0.463873965229	0.46014	0.36764090033591135	0.36678	0.339029982443	0.35864	0.774830341339	0.78148	T	0.126633	0.45314	T	0.109974	0.65349	D	-0.079807	0.64919	T	0.556054353713989	0.34706	D	0.906609	0.67067	D	0.07515457	0.16913	0.05899763	0.10998	0.07515457	0.16913	0.05899763	0.10998	-2.976	0.10245	T	.	.	0.182	0.53214	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.623924	0.51294	23.1	0.99775519828966852	0.86260	0.99233	0.93193	D	AEBI	0.903315	0.85225	D	0.473148415839061	0.65528	4.833809	0.481385882710976	0.66757	4.993869	0.998313151338382	0.36741	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.57	4.41	0.52588	8.572000	0.90544	11.231000	0.90101	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9269:0.0:0.0731:0.0	11.030	0.46984	645	0.63593	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1475.98	33	chr8	109553899	.	A	G	1475.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.004e+00;DP=839;ExcessHet=0.0000;FS=1.346;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.77;ReadPosRankSum=-5.340e-01;SOR=0.844	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,101,1575	20	0	1	0
chr8	109575109	109575109	C	A	exonic	SYBU	.	nonsynonymous SNV	SYBU:NM_001330596:exon5:c.G1399T:p.G467C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.008	B	0.015	B	0.689	N	1.000	N	0.95	L	.	.	-1.007	T	0.071	T	0.334	-0.047	3.774	1.1	0.123	0.931	2.133	0.080	0.00261922234408	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1485441798	8.9e-06	8.893e-06	6.81e-06	1.101e-05	0.0003	4.97e-06	3.83e-06	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	3.6e-06	4.972e-05	4.643e-05	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.148	0.26409	T	0.172	0.33780	T	0.008	0.14655	B	0.015	0.17295	B	0.689025	0.06135	N	1.132360	0.999997	0.08975	N	1.385	0.34509	L	.	.	.	-0.64	0.19085	N	0.146	0.23506	-1.0067	0.27943	T	0.071	0.28871	T	9	0.0806762	0.13121	T	0.002619	0.05320	T	0.080	0.23350	0.359	0.36222	0.345632371893	0.34166	0.4042819461765728	0.40344	0.282615546038	0.30717	0.279431700706	0.07413	T	0.022665	0.22553	T	-0.206451	0.19882	T	-0.433699	0.29517	T	0.0300418757097985	0.01996	T	0.844516	0.52185	T	0.09519203	0.22398	0.047689617	0.06923	0.09519203	0.22398	0.047689617	0.06922	-7.493	0.57856	T	.	.	0.119	0.25978	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.469787	0.18935	14.00	0.87703859988569932	0.17420	0.25517	0.22722	N	AEFDBI	0.471702	0.51713	N	-0.830976146954366	0.12523	0.6109584	-0.83653045855147	0.13611	0.7070632	0.819189070283949	0.24493	0.554377	0.28877	0	0.541556	0.11502	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.97	1.1	0.19578	0.967000	0.28941	-0.112000	0.11818	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.125:0.4831:0.1213:0.2706	2.133	0.03527	749	0.51929	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1866.98	33	chr8	109575109	.	C	A	1866.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.600e-01;DP=837;ExcessHet=0.0000;FS=3.968;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=-7.120e-01;SOR=0.650	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1365	20	0	1	0
chr8	112265476	112265476	T	A	exonic	CSMD3	.	nonsynonymous SNV	CSMD3:NM_001363185:exon56:c.A9023T:p.N3008I	.	.	425	1038	57	2	0	61	0.0285447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.897	P	0.74	P	0.001	D	1.000	D	0.435	N	-0.14	T	-0.835	T	0.163	T	0.293	2.564	14.53	5.44	2.191	4.032	15.778	0.097	.	0.0030	0.00419329	0.0046	0.0007	0.0016	0	0.0006	0.0050	0.0088	0.0118	0.0044437	687	154602	rs61759499	0.0045	0.0045	0.0042	0.0049	0.0248	0.0044	0.0044	0.0215	0.0202	0.0011	0.0023	0.0094	0.0002	0.0004	0.0248	0.0042	0.0053	0.0122	0.0034	0.0034	0.0037	0.0031	0.0102	0.0032	0.0031	0.0079	0.0071	0.0008	0	0.0020	0.0130	0	0.0003	0.0238	0.0050	0.0052	0.0102	0.259	0.20456	T	0.225	0.25827	T	0.02	0.49385	B	0.018	0.55692	B	0.000977	0.40836	D	0.211612	0.999992	0.58761	D	-1.115	0.00953	N	-0.14	0.65006	T	-3.09	0.63438	D	0.856	0.85238	-0.8346	0.53002	T	0.163	0.49864	T	10	0.0080629885	0.00183	T	.	.	.	0.097	0.27909	.	.	0.255117706274	0.25116	0.2820143294223687	0.28114	0.567525139074	0.53010	0.424648225307	0.28476	T	0.043682	0.26579	T	-0.441398	0.01269	T	-0.395783	0.33875	T	0.0381416662886477	0.03357	T	0.631037	0.32360	T	0.29920405	0.52834	0.23564972	0.48815	0.29920405	0.52833	0.23564972	0.48814	-7.349	0.58611	T	.	.	0.138	0.30022	B	.;.;.;.	.;.;.;.	3.411280	0.47324	22.4	0.97637824020420805	0.35063	0.96486	0.69378	D	AEFGI	0.713844	0.66651	D	0.13987230302269	0.48332	3.046874	0.270081304787182	0.53799	3.547272	0.998598772479356	0.37268	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.44	5.44	0.79348	2.710000	0.46837	5.043000	0.46929	0.609000	0.47794	0.972000	0.34453	1.000000	0.68203	0.887000	0.42601	0.0:0.0:0.0:1.0	15.778	0.78007	865	0.32612	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1463.98	34	chr8	112265476	.	T	A	1463.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.369e+00;DP=795;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=-2.990e-01;SOR=0.655	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1051	20	0	1	0
chr8	112336775	112336775	T	A	exonic	CSMD3	.	nonsynonymous SNV	CSMD3:NM_001363185:exon40:c.A6296T:p.Y2099F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.078	B	0.098	B	0.000	D	0.997	D	0.825	L	1.76	T	-1.102	T	0.045	T	0.529	1.951	12.48	5.64	2.367	4.738	16.024	0.116	0.00657786591523	.	.	0.0002	0	0	0	0	0	0	0.0017	0.0001811	28	154602	rs765598138	0.0001	0.0001	7.899e-05	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	0	0	0	2.525e-05	0	0.0007	0	8.282e-05	0.0022	3.943e-05	3.94e-05	1.285e-05	6.728e-05	0.0010	1.716e-05	1.13e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.47e-05	0	0.0010	1.0	0.02489	T	1.0	0.01155	T	0.026	0.24389	B	0.063	0.30479	B	0.000068	0.52346	D	0.078785	0.997028	0.43577	D	0.415	0.12483	N	1.76	0.25996	T	-1.19	0.32590	N	0.4	0.45615	-1.1016	0.03903	T	0.045	0.19234	T	10	0.036373377	0.01932	T	0.006578	0.17358	T	0.116	0.32463	0.728	0.86198	0.376089632046	0.37223	0.3294693004118944	0.32859	0.52909541509	0.50476	0.657410681248	0.61038	T	0.04483	0.26936	T	-0.441739	0.01263	T	-0.420534	0.31014	T	0.0975454494202075	0.12084	T	0.855114	0.57669	D	0.22514439	0.45170	0.16649754	0.38461	0.22514439	0.45170	0.16649754	0.38460	-2.323	0.08444	T	.	.	0.114	0.22789	B	.;.;.;.	.;.;.;.	3.021601	0.40446	21.2	0.94562020770215782	0.25088	0.94260	0.60603	D	AEFI	0.655479	0.62780	D	-0.175695937885163	0.34149	1.945672	0.052495018698139	0.42194	2.547794	0.525092470884417	0.21129	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.64	5.64	0.86480	3.210000	0.50832	4.983000	0.46475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.024	0.80323	868	0.31772	.;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3689.08	126	chr8	112336775	.	T	A	3689.08	.	AC=2;AF=0.048;AN=42;DP=817;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.28;SOR=0.899	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	1	0	0
chr8	112636849	112636849	C	T	exonic	CSMD3	.	nonsynonymous SNV	CSMD3:NM_001363185:exon20:c.G3293A:p.R1098Q	.	.	422	1089	10	1	0	12	0.00547945	.	.	711241	CSMD3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.63	T	1.0	D	0.999	D	0.000	D	1.000	D	2.965	M	-0.1	T	-0.134	T	0.404	T	0.76	4.754	26.6	5.74	2.712	7.818	19.940	0.433	0.0200103479327	0.0053	0.00159744	0.0040	0.0012	0.0015	0	0.0006	0.0055	0.0044	0.0051	0.0040556	627	154602	rs61753739	0.0061	0.0061	0.0061	0.0061	0.0071	0.0060	0.0060	0.0070	0.0069	0.0008	0.0019	0.0003	5.039e-05	0.0015	0.0050	0.0071	0.0058	0.0056	0.0037	0.0037	0.0042	0.0032	0.0065	0.0035	0.0034	0.0060	0.0058	0.0010	0	0.0025	0	0	0.0011	0.0034	0.0065	0.0024	0.0047	0.031	0.45039	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000010	0.62929	D	0.000000	0.999903	0.50806	D	1.385	0.34509	L	-0.1	0.64264	T	-3.02	0.63438	D	0.826	0.86085	-0.1335	0.79319	T	0.404	0.75466	T	10	0.011292219	0.00248	T	0.02001	0.42512	T	0.433	0.73879	.	.	0.687313261705	0.68463	0.6205871236476121	0.61991	0.712733288264	0.61781	0.69555413723	0.66502	T	0.173041	0.52176	T	-0.187416	0.22639	T	-0.0371411	0.67894	D	0.021361121719949	0.00839	T	0.972803	0.90184	D	0.32971403	0.55448	0.2626052	0.52054	0.32971403	0.55448	0.2626052	0.52053	-15.042	0.96498	D	.	.	0.179	0.38977	B	.;.;.;.	.;.;.;.	5.126712	0.85775	28.7	0.99946799314921497	0.99913	0.94439	0.61170	D	AEFGHCI	0.891316	0.82717	D	0.822414795391583	0.87485	9.234901	0.802546738686116	0.89971	10.19942	0.999992503873008	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.74	5.74	0.90070	7.905000	0.86479	5.933000	0.51351	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.940	0.97160	822	0.40702	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	741.98	36	chr8	112636849	.	C	T	741.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.920e-01;DP=835;ExcessHet=0.0000;FS=0.836;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.15;ReadPosRankSum=2.90;SOR=0.821	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,114,1710	20	0	1	0
chr8	115620010	115620010	C	T	exonic	TRPS1	.	nonsynonymous SNV	TRPS1:NM_001282902:exon2:c.G61A:p.E21K	Trichorhinophalangeal syndrome, type I, Autosomal dominant;Trichorhinophalangeal syndrome, type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	782983	Trichorhinophalangeal_syndrome,_type_III|Trichorhinophalangeal_dysplasia_type_I	MONDO:MONDO:0008597,MedGen:C1860823,OMIM:190351,Orphanet:77258|MONDO:MONDO:0008596,MedGen:C0432233,OMIM:190350,Orphanet:77258	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.995	D	0.97	D	0.000	D	1.000	D	0.805	L	0.46	T	1.137	D	0.962	D	0.913	4.681	25.9	5.82	2.751	6.940	20.097	0.610	0.131135752101	8.4e-05	0.000199681	0.0001	0	0	0	0	3.013e-05	0.0011	0.0009	0.0001294	20	154602	rs371442998	7.183e-05	7.182e-05	3.539e-05	0.0001	0.0010	6.047e-05	5.595e-05	0.0008	0.0008	2.987e-05	2.236e-05	0	2.519e-05	0	0	1.439e-05	1.656e-05	0.0010	4.595e-05	4.593e-05	3.854e-05	5.37e-05	0.0010	2.107e-05	1.526e-05	0.0004	0.0003	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0.0010	0.0	0.91255	D	0.0	0.92824	D	0.992	0.67487	D	0.935	0.72226	D	0.000001	0.62929	D	0.000000	0.999998	0.58761	D	0.895	0.22405	L	-5.36	0.99284	D	-0.79	0.74051	N	0.727	0.90932	1.137	0.99934	D	0.962	0.98790	D	10	0.34117383	0.51172	T	0.131136	0.81335	D	0.610	0.84719	.	.	0.918995574433	0.91817	0.48458310658177506	0.48378	0.513444096362	0.49339	0.592035233974	0.51782	T	0.188572	0.54253	T	0.24325	0.77967	D	0.48748	0.94363	D	0.257667422294617	0.23213	T	0.963704	0.86510	D	0.51269394	0.67836	0.56440496	0.74790	0.51269394	0.67837	0.56440496	0.74791	-3.669	0.18861	T	0.4979258605296832	0.57364	0.096	0.54448	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.909753	0.80764	27.4	0.9992665271578105	0.99103	0.98396	0.82349	D	AEFGBI	0.833615	0.75179	D	0.702164000587782	0.79775	7.149	0.750104084259335	0.86166	8.802773	0.999999999999979	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.82	5.82	0.92740	7.084000	0.76541	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.097	0.97848	940	0.13648	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1550.98	33	chr8	115620010	.	C	T	1550.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=816;ExcessHet=0.0000;FS=1.636;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=-4.700e-02;SOR=0.522	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr8	117171134	117171134	G	T	exonic	SLC30A8	.	nonsynonymous SNV	SLC30A8:NM_173851:exon7:c.G930T:p.M310I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.016	B	0.042	B	0.000	D	1.000	D	1.2	L	0.58	T	-1.025	T	0.118	T	0.327	1.319	10.32	4.09	1.227	6.183	11.283	0.087	0.0141709299621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	2.052e-06	1.362e-06	1.376e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	0.10412	T	0.328	0.20486	T	0.016	0.17332	B	0.042	0.24114	B	0.000001	0.84330	D	0.124331	0.999971	0.53665	D	1.65	0.42232	L	0.58	0.54149	T	-0.35	0.13611	N	0.356	0.39962	-1.0251	0.22050	T	0.118	0.41516	T	10	0.27770633	0.45338	T	0.014171	0.34105	T	0.087	0.25287	0.647	0.78436	0.406531046227	0.40268	0.4914678526354992	0.49067	0.105735292603	0.11956	0.292784631252	0.09329	T	0.138742	0.47240	T	-0.0955734	0.37158	T	-0.375061	0.36297	T	0.743180215358734	0.42909	D	0.818018	0.47523	T	0.3309881	0.55551	0.16994588	0.39066	0.3309881	0.55552	0.16994588	0.39066	-4.574	0.33319	T	.	.	0.346	0.56324	A	.;.;.;.	.;.;.;.	3.356903	0.46327	22.3	0.94027560320973014	0.24139	0.95952	0.66868	D	AEFDGBI	0.874356	0.79720	D	-0.137361527194464	0.35775	2.059146	0.0170566550949521	0.40506	2.418535	0.0714599800950987	0.15568	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.97	4.09	0.47038	6.410000	0.73213	1.889000	0.29504	0.676000	0.76740	1.000000	0.71638	0.975000	0.29991	0.922000	0.45779	0.0904:0.0:0.9096:0.0	11.283	0.48442	919	0.19497	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	809.98	33	chr8	117171134	.	G	T	809.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.910e-01;DP=759;ExcessHet=0.0000;FS=0.960;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=0.532;SOR=0.507	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1346	20	0	1	0
chr8	118933201	118933201	A	G	exonic	TNFRSF11B	.	nonsynonymous SNV	TNFRSF11B:NM_002546:exon2:c.T130C:p.C44R,	Paget disease of bone 5, juvenile-onset, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.000	D	1.000	D	2.885	M	-8.3	D	0.879	D	0.997	D	0.989	3.722	18.90	6.17	2.371	8.292	16.822	0.933	0.76444853586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.08	0.87267	M	-8.3	0.99935	D	-10.85	0.99226	D	0.948	0.95608	0.879	0.95393	D	0.997	0.99930	D	9	0.99266195	0.99802	D	0.764449	0.98133	D	0.933	0.98452	0.908	0.98109	0.954305882826	0.95382	0.9997536499644859	0.99975	1.30036020791	0.83001	0.73776447773	0.72644	T	0.968698	0.99643	D	0.569966	0.96608	D	0.58094	0.96551	D	0.999729096889496	0.98678	D	0.855414	0.54290	D	0.98907566	0.99715	0.97500575	0.99663	0.98907566	0.99715	0.97500575	0.99664	-11.449	0.82063	D	0.8424373327311545	0.91063	0.985	0.92330	P	.	.	5.222549	0.87654	29.3	0.99707991353825176	0.81143	0.99601	0.97871	D	AEFGBI	0.962952	0.98470	D	0.846491164531762	0.88908	9.758731	0.811241202565987	0.90563	10.46499	0.999999999999381	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	8.287000	0.89845	11.269000	0.91340	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	1.0:0.0:0.0:0.0	16.822	0.85699	866	0.32446	TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|Tyrosine-protein kinase ephrin type A/B receptor-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3953.08	137	chr8	118933201	.	A	G	3953.08	.	AC=2;AF=0.048;AN=42;DP=877;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.85;SOR=0.898	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1329	20	1	0	0
chr8	119595989	119595989	C	T	exonic	ENPP2	.	nonsynonymous SNV	ENPP2:NM_006209:exon12:c.G986A:p.G329D,	.	.	423	1098	1	0	0	1	0.000455166	.	.	700370	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.05	D	0.001	B	0.003	B	0.001	N	1.000	D	.	.	-0.69	T	-1.002	T	0.123	T	0.193	2.667	14.88	4.1	0.817	1.732	10.554	0.167	.	0.0008	0.00559105	0.0081	0.0006	0.0473	0.0025	0.0345	0.0027	0.0077	0	0.0069339	1072	154602	rs145333587	0.0031	0.0031	0.0035	0.0028	0.0424	0.0030	0.0030	0.0408	0.0402	0.0005	0.0424	0.0039	0.0061	0.0309	0.0003	0.0004	0.0027	0.0002	0.0048	0.0048	0.0034	0.0063	0.0160	0.0045	0.0044	0.0143	0.0137	0.0007	0	0.0160	0.0046	0.0041	0.0328	0	0.0011	0.0024	0	0.044	0.41096	D	0.0	0.92824	D	0.001	0.07471	B	0.003	0.08700	B	0.001298	0.00765	N	4.166730	0.946803	0.81001	D	.	.	.	-0.69	0.72678	T	-0.49	0.15578	N	0.335	0.37613	-1.0018	0.29401	T	0.123	0.42652	T	9	0.007866174	0.00179	T	.	.	.	0.167	0.42761	.	.	.	.	0.5998752950203141	0.59918	0.274224465883	0.29918	0.538474440575	0.44230	T	.	.	.	-0.439307	0.01305	T	-0.368773	0.37033	T	0.00995584338876024	0.00132	T	0.768923	0.39853	T	.	.	.	.	.	.	.	.	-3.353	0.14431	T	.	.	0.213	0.44227	B	.	.	2.315728	0.29649	18.19	0.99169963754107904	0.54355	0.80820	0.40362	D	AEFBI	0.298965	0.40814	N	-0.141471813673859	0.35599	2.046792	0.00895107985748377	0.40128	2.390045	0.999991341323738	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.93	4.1	0.47196	1.783000	0.38294	0.949000	0.22909	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:0.7982:0.132:0.0698	10.554	0.44292	932	0.16191	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	809.98	40	chr8	119595989	.	C	T	809.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=748;ExcessHet=0.0000;FS=3.996;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.73;ReadPosRankSum=0.576;SOR=1.314	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1134	20	0	1	0
chr8	119803972	119803972	T	C	exonic	TAF2	.	nonsynonymous SNV	TAF2:NM_003184:exon5:c.A466G:p.K156E,	Mental retardation, autosomal recessive 40, Autosomal recessive	.	1	1512	8	1	0	10	0.00329598	.	.	1327196	Microcephaly-thin_corpus_callosum-intellectual_disability_syndrome|not_specified|not_provided	MONDO:MONDO:0014273,MedGen:C3810080,OMIM:615599,Orphanet:397951|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.25	T	0.89	P	0.718	P	0.000	D	1.000	D	0.985	L	0.85	T	-0.982	T	0.148	T	0.755	4.061	20.9	4.73	1.049	7.997	12.016	0.185	0.0315857308106	0.0002	0.000399361	0.0003	9.61e-05	0	0	0.0002	0.0003	0	0.0008	0.0002264	35	154602	rs201478549	0.0002	0.0002	0.0002	0.0003	0.0012	0.0002	0.0002	0.0008	0.0008	5.974e-05	0.0001	3.827e-05	0	1.872e-05	0.0012	0.0002	0.0004	0.0010	0.0003	0.0003	0.0002	0.0003	0.0008	0.0002	0.0002	0.0004	0.0003	9.621e-05	0	0.0007	0	0	0	0	0.0004	0	0.0008	0.1	0.30515	T	0.121	0.35840	T	0.89	0.48942	P	0.718	0.54779	P	0.000002	0.62929	D	0.101295	0.999999	0.58761	D	1.79	0.46772	L	0.85	0.47130	T	-1.72	0.40850	N	0.768	0.76573	-0.9820	0.34538	T	0.148	0.47469	T	10	0.17945617	0.33081	T	0.031586	0.53633	D	0.185	0.45933	.	.	0.344740032716	0.34089	0.8482916742556542	0.84790	1.17356924394	0.79831	0.751302242279	0.74638	T	0.017596	0.14326	T	-0.188235	0.22518	T	-0.107918	0.62777	T	0.10694418825109	0.13104	T	0.872113	0.57861	D	0.31398752	0.54128	0.162042	0.37661	0.31398752	0.54128	0.162042	0.37660	-5.831	0.44844	T	0.176083715099828	0.22451	0.351	0.56619	A	.	.	4.089063	0.60890	24.3	0.99776853727077952	0.86433	0.97970	0.78525	D	AEFBI	0.819175	0.74026	D	0.390944920699349	0.60931	4.287682	0.439920428991891	0.64072	4.654213	0.993747137019113	0.33337	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.89	4.73	0.59485	7.975000	0.87664	6.139000	0.54026	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0674:0.0:0.9326	12.016	0.52609	799	0.44747	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	784.98	35	chr8	119803972	.	T	C	784.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.689;DP=775;ExcessHet=0.0000;FS=3.002;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.33;ReadPosRankSum=0.676;SOR=0.948	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1123	20	0	1	0
chr8	119846995	119846995	A	C	exonic	DSCC1	.	nonsynonymous SNV	DSCC1:NM_024094:exon4:c.T572G:p.I191S,	.	.	448	1071	3	0	0	3	0.0013986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.999	D	0.984	D	0.000	D	1.000	D	2.865	M	0.55	T	-0.339	T	0.294	T	0.98	3.292	17.06	5.21	1.964	5.885	13.655	0.520	0.0670795510791	0.0035	0.000998403	0.0036	0.0004	0.0036	0	0.0006	0.0055	0.0055	0.0005	0.0036869	570	154602	rs61753750	0.0041	0.0041	0.0042	0.0041	0.0051	0.0041	0.0040	0.0049	0.0049	0.0006	0.0030	0.0009	0	0.0006	0.0030	0.0051	0.0027	0.0005	0.0026	0.0026	0.0029	0.0022	0.0041	0.0024	0.0023	0.0037	0.0036	0.0008	0	0.0033	0.0009	0	0.0007	0.0034	0.0041	0.0080	0.0006	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.105	0.87672	M	0.55	0.54728	T	-5.1	0.83027	D	0.959	0.96871	-0.3389	0.73876	T	0.294	0.66602	T	10	0.0528602	0.05385	T	0.06708	0.70063	D	0.520	0.79583	.	.	0.74231337688	0.74000	0.9072185091075976	0.90694	1.015795043	0.74944	0.563850402832	0.47810	T	0.357688	0.72436	T	-0.00440514	0.51045	T	0.227435	0.84544	D	0.0652603585097393	0.07970	T	0.913209	0.69058	D	0.7840102	0.82901	0.68510467	0.81486	0.7840102	0.82903	0.68510467	0.81487	-11.421	0.81916	D	.	.	0.244	0.47805	B	.	.	4.247511	0.64452	24.7	0.99224553770171542	0.56026	0.98014	0.78880	D	AEFBI	0.665161	0.63408	D	0.661381521618492	0.77107	6.611514	0.579610829695313	0.73481	5.977297	0.998771411024771	0.37645	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.21	5.21	0.72005	5.922000	0.69759	11.056000	0.85368	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.827000	0.38976	1.0:0.0:0.0:0.0	13.655	0.61810	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2105.98	37	chr8	119846995	.	A	C	2105.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.015e+00;DP=868;ExcessHet=0.0000;FS=1.920;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=-6.310e-01;SOR=0.555	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr8	120203803	120203803	C	A	exonic	COL14A1	.	nonsynonymous SNV	COL14A1:NM_001384947:exon9:c.C972A:p.H324Q	.	.	9	1512	1	0	0	1	0.000330579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.175	B	0.16	B	0.002	N	0.734	D	-0.105	N	0.66	T	-0.480	T	0.295	T	0.202	1.764	11.86	5.21	2.708	0.555	12.688	0.028	0.0422781100104	.	.	8.263e-06	0	0	0	0	0	0	6.092e-05	3.84e-05	1	26028	rs758850925	5.473e-06	5.472e-06	5.446e-06	5.501e-06	0.0002	2.35e-06	1.7e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	1.799e-06	0	5.797e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.213	0.19430	T	0.326	0.27591	T	0.034	0.28858	B	0.088	0.34752	B	0.002405	0.36612	N	0.313934	0.734269	0.33752	D	-0.345	0.03330	N	-1.01	0.81815	T	-0.91	0.24460	N	0.35	0.39254	-0.4801	0.69362	T	0.295	0.66669	T	10	0.17728603	0.32755	T	0.042278	0.60377	D	0.075	0.21907	0.402	0.43245	0.737417931293	0.73507	0.4512991635225788	0.45047	0.575747071207	0.53560	0.72091293335	0.70179	T	0.115696	0.43448	T	-0.221167	0.17834	T	-0.351868	0.38991	T	0.656716346740723	0.38752	D	0.714229	0.32652	T	0.08060224	0.18479	0.064152315	0.12816	0.08060224	0.18478	0.064152315	0.12816	-3.977	0.23458	T	.	.	0.147	0.39782	B	.;.;.;.	.;.;.;.	2.043883	0.25978	16.96	0.93680332530163191	0.23581	0.94330	0.60822	D	AEFBI	0.582023	0.58181	D	-0.215661615209092	0.32490	1.832914	0.00029571514469276	0.39730	2.36017	0.630882250398412	0.21967	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.21	5.21	0.72005	0.256000	0.18120	1.096000	0.24025	0.581000	0.30040	0.435000	0.26448	1.000000	0.68203	0.854000	0.40426	0.0:0.9146:0.0:0.0854	12.688	0.56329	834	0.38640	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1040.98	43	chr8	120203803	.	C	A	1040.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.043;DP=852;ExcessHet=0.0000;FS=1.611;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.11;ReadPosRankSum=1.50;SOR=0.898	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr8	120278506	120278506	G	A	exonic	COL14A1	.	nonsynonymous SNV	COL14A1:NM_001384947:exon28:c.G3409A:p.V1137I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.997	D	0.994	D	0.000	D	1.000	D	1.5	L	-1.97	D	0.288	D	0.691	D	0.56	5.137	32	5.47	2.718	9.767	19.690	0.447	0.0183456825814	.	.	8.279e-06	0	0	0	0	0	0	6.066e-05	6.5e-06	1	154602	rs774249760	6.845e-07	6.84e-07	0	1.376e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.34800	T	0.017	0.60337	D	0.997	0.70673	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	0.999992	0.58761	D	1.485	0.37223	L	-1.97	0.85173	D	-0.66	0.19085	N	0.645	0.65673	0.288	0.87372	D	0.691	0.89338	D	10	0.7753589	0.77414	D	0.018346	0.40384	T	0.447	0.74866	0.565	0.68633	0.782165406582	0.78015	0.48203103093296584	0.48123	0.680073963959	0.59965	0.590002834797	0.51494	T	0.140293	0.47475	T	0.0590392	0.59491	T	-0.0561166	0.66601	D	0.732780272772375	0.42354	D	0.946505	0.79528	D	0.09109374	0.21335	0.1235438	0.29789	0.09109374	0.21334	0.1235438	0.29788	-5.902	0.45994	T	.	.	0.112	0.31683	B	.;.;.	.;.;.	4.583932	0.72443	25.8	0.99878330142372651	0.95491	0.99367	0.95101	D	AEFBI	0.942556	0.94729	D	0.766140083757049	0.83952	8.154044	0.771912205978859	0.87780	9.342593	0.999999998755675	0.74766	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.47	5.47	0.80345	9.956000	0.98995	9.900000	0.82342	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	19.690	0.95994	673	0.60677	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	798.98	37	chr8	120278506	.	G	A	798.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.036e+00;DP=794;ExcessHet=0.0000;FS=0.847;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=-3.470e-01;SOR=0.818	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1188	20	0	1	0
chr8	120451294	120451294	A	T	exonic	MTBP	.	nonsynonymous SNV	MTBP:NM_022045:exon4:c.A397T:p.N133Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.939	D	0.000	D	0.976	D	2.125	M	.	.	-0.363	T	0.335	T	0.488	3.615	18.40	4.3	0.889	3.446	11.31	0.189	0.0170271757221	.	0.00119808	0.0006	0	8.667e-05	0	0	1.504e-05	0.0011	0.0041	0.0004981	77	154602	rs566600503	0.0003	0.0003	0.0001	0.0004	0.0047	0.0002	0.0002	0.0035	0.0034	0	0	0	0	0	0.0047	8.998e-06	0.0002	0.0039	0.0001	0.0001	3.854e-05	0.0002	0.0033	6.506e-05	5.318e-05	0.0021	0.0017	0	0	0	0	0	0	0	0	0	0.0033	0.003	0.68238	D	0.01	0.65728	D	0.977	0.58535	D	0.803	0.58300	P	0.000025	0.55875	D	0.151389	0.976164	0.39252	D	2.595	0.75868	M	.	.	.	-3.5	0.68178	D	0.485	0.51940	-0.3633	0.73165	T	0.335	0.70174	T	9	0.008321643	0.00189	T	0.017027	0.38558	T	0.189	0.46613	0.19	0.10039	0.540879910095	0.53741	0.21687305361920275	0.21603	0.21605900711	0.24131	0.445549696684	0.31336	T	0.458825	0.79665	T	-0.287859	0.09852	T	-0.187739	0.55802	T	0.208607797549322	0.20880	T	0.79872	0.44372	T	0.41912085	0.62033	0.4373068	0.67154	0.41912085	0.62033	0.4373068	0.67154	-4.516	0.31097	T	.	.	0.140	0.30739	B	.	.	3.591748	0.50690	23.0	0.99396767965558863	0.62610	0.95971	0.66952	D	AEFGBI	0.227478	0.35128	N	0.437241705089528	0.63482	4.582911	0.380868145923304	0.60387	4.225574	0.999944125269382	0.47345	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.48	4.3	0.50540	3.450000	0.52720	4.516000	0.43668	0.743000	0.86499	0.942000	0.32722	0.217000	0.23687	0.998000	0.85391	0.8475:0.1525:0.0:0.0	11.31	0.48594	657	0.62240	MDM2-binding protein, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	685.98	33	chr8	120451294	.	A	T	685.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.320e-01;DP=771;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.55;ReadPosRankSum=0.908;SOR=0.673	GT:AD:DP:GQ:PL	0/1:35,30:65:99:700,0,879	20	0	1	0
chr8	120490552	120490552	G	A	exonic	MTBP	.	nonsynonymous SNV	MTBP:NM_022045:exon13:c.G1429A:p.A477T,	.	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.513	P	0.147	B	0.000	D	0.775	D	2.215	M	.	.	-0.458	T	0.205	T	0.351	3.540	18.06	5.0	1.486	4.952	14.980	0.140	0.00764654572281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.902e-07	1.368e-06	1.373e-06	0	9.033e-07	0	0	.	.	0	0	0	0	0	0	9.033e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.048	0.48594	D	0.513	0.37366	P	0.147	0.34014	B	0.000407	0.44736	D	0.228496	0.774785	0.34194	D	2.71	0.79292	M	.	.	.	-2.32	0.51478	N	0.322	0.36254	-0.4582	0.70128	T	0.205	0.56362	T	9	0.4197968	0.56786	T	0.007647	0.20299	T	0.140	0.37593	0.398	0.42590	0.536051623013	0.53255	0.40687079048739905	0.40603	0.151432664417	0.17094	0.335589379072	0.15777	T	0.540921	0.84280	D	-3.37926e-05	0.51649	T	-0.237825	0.51011	T	0.960853636264801	0.65919	D	0.632737	0.24712	T	0.11797933	0.27806	0.16329956	0.37888	0.11797933	0.27805	0.16329956	0.37887	-3.41	0.15191	T	.	.	0.123	0.25817	B	.	.	4.250190	0.64514	24.7	0.99778167311720611	0.86519	0.95210	0.63845	D	AEFDBI	0.434430	0.49548	N	0.074078982244545	0.45254	2.785179	0.153435372050576	0.47324	2.964373	0.994836958884407	0.33823	0.651	0.46895	0	0.708844	0.79440	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.87	5.0	0.66209	5.051000	0.64074	7.555000	0.60355	-0.185000	0.09859	1.000000	0.71638	1.000000	0.68203	0.823000	0.38780	0.0684:0.0:0.9316:0.0	14.980	0.70957	703	0.57489	MDM2-binding protein, central domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1023.98	34	chr8	120490552	.	G	A	1023.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.567e+00;DP=788;ExcessHet=0.0000;FS=2.933;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.91;ReadPosRankSum=1.55;SOR=0.412	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,101,1213	20	0	1	0
chr8	120548788	120548788	G	A	exonic	SNTB1	.	nonsynonymous SNV	SNTB1:NM_021021:exon5:c.C1307T:p.A436V,	.	.	428	1083	11	0	0	11	0.00505282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.83	T	0.887	P	0.541	P	0.000	D	1.000	D	1.27	L	-1.98	D	-0.268	T	0.428	T	0.862	4.443	23.7	5.68	2.674	9.869	19.800	0.544	0.0678769026873	0.0062	0.000998403	0.0051	0.0014	0.0048	0	0.0003	0.0073	0.0044	0.0035	0.005705	882	154602	rs61762674	0.0087	0.0087	0.0089	0.0085	0.0105	0.0086	0.0085	0.0104	0.0103	0.0012	0.0040	0.0003	0	0.0013	0.0036	0.0105	0.0069	0.0033	0.0050	0.0050	0.0052	0.0047	0.0089	0.0047	0.0046	0.0083	0.0081	0.0018	0	0.0029	0.0003	0	0.0009	0.0034	0.0089	0.0052	0.0017	0.151	0.24564	T	0.332	0.18449	T	0.887	0.48784	P	0.541	0.48869	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.09	0.57893	M	-1.98	0.85247	D	-3.05	0.62976	D	0.912	0.91391	-0.2678	0.75871	T	0.428	0.77055	T	10	0.052652776	0.05332	T	0.067877	0.70290	D	0.544	0.81018	.	.	0.775274093175	0.77321	0.6525711085955409	0.65193	.	.	0.479424625635	0.35977	T	0.446651	0.78922	T	0.0103242	0.53070	T	0.25373	0.85793	D	0.0413831671940031	0.03942	T	0.89781	0.64256	D	0.29604852	0.52548	0.29344627	0.55373	0.29604852	0.52548	0.29344627	0.55372	-7.658	0.58715	D	.	.	0.363	0.57405	A	.;.	.;.	4.730905	0.76202	26.5	0.99333251194066097	0.59856	0.99422	0.95828	D	AEFGBI	0.929128	0.91441	D	0.244254377398568	0.53356	3.504763	0.261916397613154	0.53330	3.50251	0.999999999992855	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.68	5.68	0.88021	10.003000	0.99689	9.897000	0.82319	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.502000	0.29062	0.0:0.0:1.0:0.0	19.800	0.96501	687	0.59234	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2062.98	33	chr8	120548788	.	G	A	2062.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.200e-01;DP=850;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.66;ReadPosRankSum=-4.100e-01;SOR=0.722	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1258	20	0	1	0
chr8	120811608	120811608	G	A	exonic	SNTB1	.	nonsynonymous SNV	SNTB1:NM_021021:exon1:c.C236T:p.A79V,	.	.	416	1072	33	1	0	35	0.0160624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.072	B	0.016	B	0.371	N	1.000	N	0	N	1.04	T	-1.033	T	0.058	T	0.166	1.524	11.05	3.01	1.015	1.176	5.809	0.030	.	0.0011	0.00199681	0.0039	0.0010	0.0030	0	0.0014	0.0026	0.0082	0.0100	0.0016235	251	154602	rs201940243	0.0013	0.0013	0.0010	0.0016	0.0102	0.0012	0.0012	0.0081	0.0079	0.0001	0.0008	0.0050	0	0.0003	0.0102	0.0007	0.0016	0.0086	0.0011	0.0011	0.0011	0.0011	0.0081	0.0010	0.0009	0.0061	0.0054	0.0001	0	0.0003	0.0060	0	0.0007	0.0103	0.0013	0.0005	0.0081	0.313	0.13879	T	0.35	0.17478	T	0.012	0.16265	B	0.007	0.12992	B	0.371210	0.04363	N	1.429480	1	0.08975	N	1.04	0.26193	L	1.04	0.40218	T	-0.82	0.22508	N	0.072	0.04547	-1.0331	0.19459	T	0.058	0.24465	T	10	0.0034614503	0.00061	T	.	.	.	0.030	0.07022	.	.	0.318133320967	0.31420	0.45327639487978616	0.45245	.	.	0.705061197281	0.67876	T	0.225548	0.59031	T	-0.551429	0.00286	T	-0.559034	0.16467	T	0.00172025871911033	0.00018	T	0.542346	0.18433	T	0.05869175	0.11837	0.061272908	0.11804	0.05869175	0.11837	0.061272908	0.11804	-5.537	0.42213	T	.	.	0.082	0.08657	B	.;.	.;.	1.968172	0.25002	16.60	0.97215705365773275	0.32878	0.16176	0.19266	N	AEFDBHCIJ	0.082456	0.16697	N	-0.766014321388156	0.14202	0.7055587	-0.683740317296577	0.17367	0.9231392	0.99999886410472	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.391439	0.06340	0	0.554799	0.18163	0	.	.	4.94	3.01	0.33872	0.845000	0.27321	1.235000	0.25068	0.583000	0.30283	0.006000	0.17386	0.010000	0.20010	0.794000	0.37478	0.0776:0.138:0.6416:0.1427	5.809	0.17720	430	0.80826	Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1281.98	34	chr8	120811608	.	G	A	1281.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.470e-01;DP=818;ExcessHet=0.0000;FS=1.705;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=-1.286e+00;SOR=0.515	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,101,1199	20	0	1	0
chr8	120811635	120811635	C	T	exonic	SNTB1	.	nonsynonymous SNV	SNTB1:NM_021021:exon1:c.G209A:p.R70K,	.	.	411	1108	3	0	0	3	0.00135196	.	.	2369109	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.91	T	0.065	B	0.048	B	0.001	N	0.835	N	0	N	1.18	T	-1.088	T	0.046	T	0.25	1.374	10.52	5.06	2.330	1.808	16.201	0.053	0.068224968246	.	0.000798722	0.0005	0.0002	0.0003	0	0.0007	0.0006	0	0.0010	0.0003687	57	154602	rs145732083	0.0006	0.0006	0.0005	0.0007	0.0011	0.0006	0.0006	0.0009	0.0009	0.0001	9.62e-05	0	0	0.0002	0.0007	0.0006	0.0006	0.0011	0.0004	0.0004	0.0005	0.0003	0.0008	0.0004	0.0003	0.0007	0.0006	7.218e-05	0	6.535e-05	0	0	0.0003	0	0.0008	0	0.0008	0.735	0.03753	T	0.928	0.02795	T	0.001	0.07471	B	0.001	0.04355	B	0.001196	0.39899	N	0.160194	0.834722	0.28712	N	0.895	0.22405	L	1.18	0.37746	T	-0.42	0.14193	N	0.277	0.31365	-1.0884	0.05804	T	0.046	0.19720	T	10	0.017380834	0.00371	T	0.068225	0.70390	D	0.053	0.14996	.	.	0.252829632966	0.24901	0.5088952206881259	0.50811	.	.	0.880455970764	0.94022	D	0.209514	0.56974	T	-0.477888	0.00761	T	-0.50967	0.21350	T	0.0124958123732138	0.00206	T	0.50295	0.15803	T	0.21631241	0.44086	0.13308613	0.31921	0.21631241	0.44086	0.13308613	0.31920	-3.528	0.16826	T	.	.	0.117	0.26325	B	.;.	.;.	2.288211	0.29267	18.07	0.96957819408484647	0.31767	0.69522	0.34221	D	AEFDBHCIJ	0.180434	0.30774	N	-0.430022482394311	0.24422	1.318578	-0.201508365737499	0.31482	1.782108	0.999999978329154	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.391439	0.06340	0	0.554799	0.18163	0	.	.	5.06	5.06	0.67838	1.302000	0.33063	3.609000	0.39247	0.518000	0.23583	0.827000	0.30089	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	16.201	0.81895	430	0.80826	Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1628.98	34	chr8	120811635	.	C	T	1628.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=840;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=0.398;SOR=0.758	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,101,1199	20	0	1	0
chr8	122953840	122953840	G	A	exonic	ZHX2	.	nonsynonymous SNV	ZHX2:NM_014943:exon3:c.G2330A:p.R777Q	.	.	.	.	.	.	.	.	.	.	.	2424609	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.6	T	0.0	B	0.001	B	0.064	N	0.876	N	-0.205	N	2.3	T	-0.983	T	0.016	T	0.141	2.132	13.08	3.08	0.817	0.958	6.061	0.015	0.00438350041404	0.0002	0.000199681	0.0002	0.0013	8.649e-05	0	0	7.505e-05	0	0	0.0001294	20	154602	rs150252730	6.567e-05	6.567e-05	6.126e-05	7.013e-05	0.0013	5.495e-05	5.107e-05	0.0010	0.0009	0.0013	6.708e-05	0	0.0003	0	0.0002	2.518e-05	6.623e-05	5.797e-05	0.0003	0.0003	0.0003	0.0003	0.0011	0.0002	0.0002	0.0008	0.0007	0.0011	0	0.0001	0	0	0	0	1.47e-05	0.0005	0	0.651	0.04832	T	0.538	0.09829	T	0.0	0.02946	B	0.001	0.04355	B	0.064155	0.21973	N	0.451184	0.875976	0.28130	N	0.895	0.22405	L	2.3	0.16953	T	0.64	0.02368	N	0.098	0.07949	-0.9833	0.34234	T	0.016	0.06521	T	10	0.01003927	0.00225	T	0.004384	0.10687	T	0.015	0.02232	.	.	0.212008924253	0.20833	0.10155899677793598	0.10086	0.306489444402	0.32949	0.246095091105	0.03367	T	0.025516	0.19064	T	-0.56404	0.00240	T	-0.639329	0.09718	T	0.025061833695462	0.01281	T	0.692831	0.30243	T	0.022075128	0.00847	0.03220373	0.01920	0.022075128	0.00846	0.03220373	0.01920	-3.209	0.12591	T	.	.	0.069	0.03128	B	.	.	2.012407	0.25571	16.81	0.98619338343076235	0.43758	0.62423	0.31777	D	AEFDGBI	0.131393	0.25030	N	-0.522155614575741	0.21365	1.13329	-0.29752891651173	0.28180	1.569135	0.999981814379736	0.51787	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.83	3.08	0.34576	2.855000	0.48032	1.723000	0.28273	0.672000	0.70159	1.000000	0.71638	0.981000	0.30433	0.963000	0.52385	0.4511:0.0:0.5489:0.0	6.061	0.19060	950	0.11238	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2696.98	33	chr8	122953840	.	G	A	2696.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=1622;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.58;ReadPosRankSum=0.626;SOR=0.718	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1193	20	0	1	0
chr8	122953992	122953992	G	A	exonic	ZHX2	.	nonsynonymous SNV	ZHX2:NM_014943:exon3:c.G2482A:p.D828N	.	.	.	.	.	.	.	.	.	.	.	3490327	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.76	P	0.054	B	0.050	N	1.000	N	0.345	N	2.17	T	-1.023	T	0.030	T	0.056	2.326	13.73	6.04	2.873	7.580	18.760	0.162	0.0120078792287	.	.	3.532e-05	0	0.0002	0	0	1.565e-05	0	7.709e-05	2.59e-05	4	154602	rs757024481	3.019e-05	3.078e-05	3.138e-05	2.899e-05	0.0002	2.289e-05	2.038e-05	8.908e-05	6.461e-05	0	0.0002	0	2.522e-05	0.0003	0.0002	4.508e-06	4.983e-05	0.0001	5.913e-05	5.91e-05	5.138e-05	6.725e-05	0.0004	3.077e-05	2.21e-05	7.279e-05	3.025e-05	0	0	0	0	0.0002	0.0003	0	4.409e-05	0	0.0004	0.009	0.57480	D	0.036	0.52060	D	0.76	0.43524	P	0.054	0.25828	B	0.050359	0.23079	N	0.427179	0.999961	0.18878	N	0.695	0.17993	N	2.17	0.19020	T	-0.88	0.23808	N	0.204	0.22614	-1.0232	0.22671	T	0.030	0.12892	T	10	0.115163	0.21689	T	0.012008	0.30193	T	0.162	0.41843	0.153	0.05648	0.368183359018	0.36430	0.14450055253521576	0.14373	0.305324348637	0.32837	0.46616140008	0.34154	T	0.053304	0.29406	T	-0.451143	0.01112	T	-0.616513	0.11461	T	0.0842949376629563	0.10527	T	0.722728	0.33613	T	0.08675309	0.20176	0.08119893	0.18433	0.08675309	0.20176	0.08119893	0.18432	-4.652	0.32818	T	.	.	0.093	0.14155	B	.	.	4.110564	0.61357	24.3	0.99832130686804876	0.91370	0.98743	0.86283	D	AEFDGBI	0.748614	0.69031	D	0.162365638489856	0.49400	3.140737	0.277875906175202	0.54249	3.590576	0.999999879491803	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	6.04	6.04	0.98025	7.696000	0.83499	9.932000	0.82588	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.246000	0.23158	0.0:0.0:1.0:0.0	18.760	0.91809	950	0.11238	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1197.98	33	chr8	122953992	.	G	A	1197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.909;DP=862;ExcessHet=0.0000;FS=3.982;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=-3.880e-01;SOR=1.130	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr8	123207623	123207623	C	A	exonic	FAM83A	.	nonsynonymous SNV	FAM83A:NM_032899:exon5:c.C1240A:p.L414M,	.	.	408	1104	10	0	0	10	0.00450857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.8	P	0.365	B	0.103	N	1.000	N	0.895	L	2.89	T	-0.997	T	0.018	T	0.171	0.973	8.970	-0.618	-0.032	-0.063	7.098	0.064	.	.	.	0.0028	0	0	0	0.0208	0.0030	0	0.0032	0.0007762	120	154602	rs199759565	0.0010	0.0010	0.0010	0.0010	0.0034	0.0010	0.0009	0.0023	0.0019	9.445e-05	0.0003	4.088e-05	0	0.0039	0.0034	0.0009	0.0009	0.0023	0.0010	0.0010	0.0009	0.0011	0.0013	0.0009	0.0008	0.0011	0.0010	0.0001	0	0.0005	0	0	0.0040	0.0068	0.0013	0.0009	0.0012	0.1	0.30515	T	0.197	0.27855	T	0.8	0.44988	P	0.365	0.43339	B	0.103341	0.19752	N	0.285942	1	0.08975	N	2.3	0.65703	M	2.89	0.10196	T	-0.21	0.10308	N	0.182	0.19728	-0.9973	0.30673	T	0.018	0.07706	T	10	0.0041337013	0.00081	T	.	.	.	0.064	0.18567	.	.	0.154104182512	0.14974	0.12363116950262301	0.12289	0.643088351266	0.57858	0.490050911903	0.37445	T	0.02061	0.16197	T	-0.601661	0.00142	T	-0.639757	0.09686	T	0.0194454087793681	0.00648	T	0.453855	0.12912	T	0.06262029	0.13099	0.04878842	0.07322	0.06262029	0.13099	0.04878842	0.07321	-4.628	0.32521	T	.	.	0.109	0.20857	B	.	.	2.211912	0.28218	17.72	0.93796284340146019	0.23763	0.25141	0.22609	N	AEFDGBCI	0.085705	0.17374	N	-0.814073060736526	0.12950	0.6346727	-0.869401932574363	0.12822	0.6618036	0.999989345797475	0.51787	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.06	-0.618	0.10995	-0.049000	0.11879	0.419000	0.18199	-0.365000	0.05478	0.003000	0.16062	0.964000	0.29435	0.799000	0.37691	0.0:0.4503:0.1915:0.3582	7.098	0.24500	972	0.05671	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	540.98	35	chr8	123207623	.	C	A	540.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.179e+00;DP=706;ExcessHet=0.0000;FS=7.652;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.91;ReadPosRankSum=3.03;SOR=0.663	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1143	20	0	1	0
chr8	123369919	123369924	TCATCA	-	exonic	ATAD2	.	nonframeshift deletion	ATAD2:NM_014109:exon7:c.828_833del:p.D276_D277del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0046	0.0054	0.0011	0.0358	0	0.0010	0.0037	0.0065	0.0001153	3	26028	rs757527760	0.0024	0.0024	0.0023	0.0026	0.0445	0.0024	0.0023	0.0427	0.0420	0.0041	0.0008	0.0055	0.0445	5.891e-05	0.0131	0.0006	0.0029	0.0059	0.0033	0.0032	0.0031	0.0034	0.0346	0.0030	0.0029	0.0304	0.0288	0.0040	0	0.0011	0.0046	0.0346	0	0.0068	0.0010	0.0029	0.0090	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	869.94	34	chr8	123369918	.	TTCATCA	T	869.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.142e+00;DP=749;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.00;ReadPosRankSum=-1.461e+00;SOR=0.719	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1286	20	0	1	0
chr8	123645953	123645953	C	A	exonic	KLHL38	.	nonsynonymous SNV	KLHL38:NM_001081675:exon4:c.G1532T:p.R511M,	.	.	410	1106	6	0	0	6	0.00270514	.	.	2338388	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	3.88	H	-2.01	D	0.942	D	0.837	D	0.883	3.940	20.1	4.3	1.174	6.092	15.685	0.854	0.252736437437	0.0006	0.000199681	0.0005	0.0001	0.0009	0	0	0.0006	0.0022	0.0004	0.0004269	66	154602	rs201599108	0.0003	0.0003	0.0002	0.0003	0.0031	0.0002	0.0002	0.0020	0.0017	0.0001	0.0007	0.0006	0	1.872e-05	0.0031	0.0002	0.0005	0.0004	0.0005	0.0005	0.0006	0.0004	0.0008	0.0004	0.0004	0.0005	0.0004	9.626e-05	0.0219	0.0008	0.0003	0	0	0	0.0005	0.0005	0.0002	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.044956	0.99995	0.52396	D	3.7	0.94612	H	-2.01	0.85468	D	-4.11	0.74980	D	0.786	0.78262	0.942	0.96271	D	0.837	0.94557	D	10	0.15214586	0.28745	T	0.252736	0.89184	D	0.854	0.95507	.	.	0.815342491016	0.81360	0.8341560103418265	0.83374	0.307561973651	0.33053	0.696951568127	0.66704	T	0.619844	0.88068	D	0.150267	0.69293	D	0.352715	0.90424	D	0.395794451236725	0.28783	T	0.757724	0.38135	T	0.46202433	0.64796	0.5532881	0.74167	0.46202433	0.64797	0.5532881	0.74168	-12.828	0.88642	D	.	.	0.657	0.71217	P	.	.	4.526813	0.71028	25.6	0.96840856866276759	0.31301	0.97737	0.76769	D	AEFDGBI	0.866243	0.78560	D	0.585045559153105	0.72240	5.774808	0.471426344125517	0.66103	4.908828	0.999999996779966	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.18	4.3	0.50540	6.174000	0.71864	3.351000	0.37785	-0.214000	0.08267	1.000000	0.71638	1.000000	0.68203	0.869000	0.41347	0.0:0.8624:0.1376:0.0	15.685	0.77157	969	0.06854	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1094.98	118	chr8	123645953	.	C	A	1094.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.500e-01;DP=856;ExcessHet=0.0000;FS=0.701;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.28;ReadPosRankSum=-1.259e+00;SOR=0.603	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1211	20	0	1	0
chr8	123966166	123966166	T	A	exonic	FER1L6	.	nonsynonymous SNV	FER1L6:NM_001039112:exon5:c.T260A:p.I87K,	.	.	419	1100	3	0	0	3	0.00136178	.	.	711276	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.973	D	0.895	P	0.000	U	1.000	D	2.725	M	-0.85	T	0.098	D	0.420	T	0.832	3.827	19.43	5.32	2.146	7.970	15.587	0.831	.	0.0056	0.00519169	0.0062	0.0014	0.0034	0	0.0087	0.0084	0.0057	0.0047	0.0061319	948	154602	rs74808242	0.0078	0.0078	0.0078	0.0077	0.0087	0.0076	0.0076	0.0086	0.0085	0.0010	0.0047	0.0014	0	0.0096	0.0064	0.0087	0.0075	0.0044	0.0060	0.0060	0.0062	0.0057	0.0092	0.0057	0.0055	0.0086	0.0084	0.0016	0.0033	0.0047	0.0014	0	0.0092	0.0034	0.0092	0.0090	0.0042	0.0	0.91255	D	0.001	0.83351	D	0.973	0.57599	D	0.895	0.63489	P	0.000001	0.84330	U	0.000000	1	0.81001	D	2.995	0.85803	M	-0.85	0.74371	T	-6.06	0.89833	D	0.896	0.89577	0.098	0.84140	D	0.420	0.76570	T	10	0.017080188	0.00363	T	.	.	.	0.831	0.94653	.	.	0.456275507713	0.45249	0.8721033351985741	0.87176	0.678073064396	0.59862	0.581775724888	0.50335	T	0.340703	0.70969	T	-0.0465539	0.44969	T	0.17074	0.81456	D	0.0448405362824062	0.04573	T	0.943806	0.78763	D	0.81513256	0.84894	0.88644725	0.94016	0.81513256	0.84895	0.88644725	0.94016	-16.216	0.98066	D	.	.	0.990	0.93663	P	.	.	4.102046	0.61177	24.3	0.96394958242097073	0.29668	0.98376	0.82147	D	AEFGBI	0.910277	0.86797	D	0.640861003520806	0.75777	6.366572	0.549752364596124	0.71380	5.646081	0.999997441084026	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.32	5.32	0.75377	7.991000	0.87898	7.733000	0.67792	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:0.0:0.0:1.0	15.587	0.76233	758	0.50837	C2 domain|C2 domain|C2 domain|Ferlin, second C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2051.98	34	chr8	123966166	.	T	A	2051.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.55;DP=823;ExcessHet=0.0000;FS=5.350;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.66;ReadPosRankSum=-2.230e-01;SOR=1.157	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1226	20	0	1	0
chr8	124010665	124010665	C	T	exonic	FER1L6	.	nonsynonymous SNV	FER1L6:NM_001039112:exon14:c.C1772T:p.T591I,	.	.	428	1033	60	1	0	62	0.0291353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.0	B	0.002	B	0.108	N	0.850	D	1.1	L	-1.51	D	-0.796	T	0.231	T	0.125	2.072	12.89	-1.02	-0.292	-0.027	9.710	0.205	.	0.0071	0.0131789	0.0097	0.0134	0.0047	0	0.0036	0.0064	0.0078	0.0322	0.0087838	1358	154602	rs151336286	0.0064	0.0064	0.0055	0.0072	0.0290	0.0063	0.0062	0.0281	0.0277	0.0130	0.0047	0.0022	0	0.0041	0.0162	0.0048	0.0075	0.0290	0.0080	0.0080	0.0083	0.0078	0.0264	0.0077	0.0075	0.0227	0.0212	0.0118	0	0.0105	0.0012	0	0.0031	0.0034	0.0057	0.0076	0.0264	0.099	0.30656	T	0.235	0.24767	T	0.0	0.02946	B	0.002	0.06944	B	0.107533	0.19567	N	0.460944	0.850161	0.35209	D	0.995	0.25082	L	-1.51	0.81399	D	-2.99	0.62151	D	0.22	0.24634	-0.7965	0.55350	T	0.231	0.59645	T	10	0.0048378706	0.00103	T	.	.	.	0.205	0.49236	.	.	0.154104182512	0.14974	0.5477211513146669	0.54698	0.118479470376	0.13338	0.444607198238	0.31207	T	0.138948	0.47272	T	-0.459616	0.00988	T	-0.410671	0.32148	T	0.0392810590565205	0.03561	T	0.578142	0.20837	T	0.07896309	0.18014	0.13668564	0.32693	0.07896309	0.18013	0.13668564	0.32692	-7.946	0.60701	D	.	.	0.118	0.24123	B	.	.	1.098005	0.14821	11.36	0.99163655309847987	0.54184	0.09839	0.15503	N	AEFGBHCI	0.051628	0.09138	N	-0.756144786044258	0.14467	0.7208705	-0.739194585284678	0.15987	0.8436258	0.99998999448841	0.51787	0.525926	0.21836	0	0.547309	0.14657	0	0.547309	0.15389	0	0.584449	0.35598	0	.	.	5.33	-1.02	0.09618	0.083000	0.14718	0.166000	0.15462	0.599000	0.40250	0.028000	0.20300	0.006000	0.19429	0.997000	0.79791	0.0:0.5131:0.0:0.4869	9.710	0.39404	793	0.45818	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	785.98	35	chr8	124010665	.	C	T	785.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.17;DP=757;ExcessHet=0.0000;FS=6.436;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.39;ReadPosRankSum=-2.125e+00;SOR=1.460	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1071	20	0	1	0
chr8	124039935	124039935	G	A	exonic	FER1L6	.	nonsynonymous SNV	FER1L6:NM_001039112:exon20:c.G2518A:p.A840T,	.	.	425	1059	35	3	0	41	0.0189903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.999	D	0.000	U	1.000	D	3.6	H	-0.47	T	0.236	D	0.489	T	0.854	5.594	35	5.64	2.637	9.380	18.473	0.573	.	0.0052	0.00579073	0.0060	0.0005	0.0029	0	0.0023	0.0070	0.0033	0.0119	0.0058667	907	154602	rs142217401	0.0060	0.0060	0.0057	0.0064	0.0184	0.0059	0.0059	0.0155	0.0145	0.0016	0.0026	0.0310	0	0.0025	0.0184	0.0055	0.0076	0.0117	0.0052	0.0052	0.0052	0.0053	0.0128	0.0049	0.0048	0.0103	0.0094	0.0010	0	0.0068	0.0346	0	0.0042	0.0102	0.0061	0.0038	0.0128	0.004	0.65419	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	U	0.000000	1	0.81001	D	3.385	0.91502	M	-0.47	0.70133	T	-2.98	0.62008	D	0.743	0.74280	0.236	0.86505	D	0.489	0.80570	T	10	0.009503335	0.00214	T	.	.	.	0.573	0.82686	.	.	0.500678981321	0.49703	0.49789396815745735	0.49710	0.508400521286	0.48994	0.630729317665	0.57248	T	0.371066	0.73549	T	-0.0170175	0.49277	T	0.213167	0.83826	D	0.0513036213528473	0.05727	T	0.968103	0.88413	D	0.38378093	0.59588	0.51439893	0.71942	0.38378093	0.59589	0.51439893	0.71942	-11.287	0.81209	D	.	.	0.749	0.74994	P	.	.	5.545356	0.92002	32	0.99946500699424612	0.99901	0.93654	0.58812	D	ALL	0.893354	0.83121	D	1.02785673737034	0.96537	14.81895	0.962320638862546	0.97756	16.70569	1.0	0.98316	0.549168	0.22868	0	0.59043	0.45803	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	5.64	5.64	0.86480	9.968000	0.99102	11.689000	0.94328	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:1.0:0.0	18.473	0.90727	686	0.59327	C2 domain|C2 domain|C2 domain|Ferlin, fourth C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	6337.11	38	chr8	124039935	.	G	A	6337.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.32;DP=1175;ExcessHet=0.1072;FS=1.105;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=0.177;SOR=0.817	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1387	19	0	2	0
chr8	124060650	124060650	G	A	exonic	FER1L6	.	nonsynonymous SNV	FER1L6:NM_001039112:exon24:c.G3088A:p.V1030M,	.	.	427	1090	5	0	0	5	0.00228833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.000	U	1.000	D	2.475	M	-1.51	D	0.459	D	0.709	D	0.771	4.720	26.3	5.95	2.825	2.637	19.980	0.469	0.0577816588391	0.0013	0.000798722	0.0012	0.0002	0.0005	0	0	0.0011	0.0011	0.0038	0.0012031	186	154602	rs138376786	0.0020	0.0020	0.0019	0.0020	0.0046	0.0019	0.0019	0.0042	0.0041	0.0002	0.0006	0.0002	7.557e-05	3.744e-05	0.0003	0.0020	0.0025	0.0046	0.0010	0.0010	0.0011	0.0009	0.0035	0.0009	0.0008	0.0022	0.0018	0.0004	0	0.0009	0.0003	0	0	0	0.0015	0.0014	0.0035	0.003	0.68238	D	0.079	0.42086	T	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	U	0.000000	1	0.81001	D	2.815	0.81989	M	-1.51	0.81399	D	-1.73	0.41046	N	0.415	0.45520	0.459	0.89959	D	0.709	0.89995	D	10	0.012092531	0.00261	T	0.057782	0.67088	D	0.469	0.76355	.	.	0.602640947006	0.59946	0.5274858280218683	0.52672	0.292535804089	0.31669	0.516044020653	0.41069	T	0.200305	0.55785	T	-0.11284	0.34300	T	0.064616	0.74552	D	0.0770072079365423	0.09600	T	0.859914	0.55237	D	0.3067312	0.53502	0.494461	0.70762	0.3067312	0.53502	0.494461	0.70762	-7.583	0.58192	D	.	.	0.389	0.58930	A	.	.	4.595269	0.72728	25.9	0.9992425629510886	0.98980	0.95575	0.65269	D	AEFDGBI	0.697547	0.65552	D	0.774459227178276	0.84487	8.301031	0.751550132479782	0.86271	8.836593	0.999999879463132	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.95	5.95	0.96415	2.240000	0.42737	4.976000	0.46431	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	19.980	0.97325	746	0.52331	C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1299.98	38	chr8	124060650	.	G	A	1299.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.100e-01;DP=902;ExcessHet=0.0000;FS=1.456;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.74;ReadPosRankSum=0.278;SOR=0.880	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr8	124076283	124076283	G	A	exonic	FER1L6	.	nonsynonymous SNV	FER1L6:NM_001039112:exon32:c.G4178A:p.R1393Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	1.0	D	0.999	D	0.000	U	1.000	D	1.62	L	-0.65	T	-0.220	T	0.480	T	0.736	4.475	23.9	5.47	2.724	2.580	19.702	0.481	0.0459097760189	.	.	9.937e-05	0	8.639e-05	0	0	0.0001	0	0.0002	7.76e-05	12	154602	rs759130594	3.968e-05	3.967e-05	3.404e-05	4.538e-05	0.0003	3.113e-05	2.847e-05	0.0002	0.0002	0	8.945e-05	0	2.519e-05	0	0.0002	2.069e-05	6.625e-05	0.0003	5.258e-05	5.253e-05	5.14e-05	5.381e-05	7.351e-05	2.558e-05	1.83e-05	2.847e-05	1.858e-05	4.826e-05	0	6.546e-05	0	0	0	0	7.351e-05	0	0	0.007	0.59928	D	0.007	0.69154	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	U	0.000000	0.999867	0.50061	D	1.325	0.33218	L	-0.65	0.72237	T	-2.21	0.49684	N	0.284	0.32148	-0.2200	0.77151	T	0.480	0.80134	T	10	0.22297782	0.39064	T	0.04591	0.62205	D	0.481	0.77142	.	.	0.518752145996	0.51518	0.6695267360915926	0.66890	0.348880239613	0.36747	0.502783596516	0.39215	T	0.100945	0.40722	T	-0.0774787	0.40123	T	-0.0487453	0.67109	D	0.366254419088364	0.27652	T	0.963204	0.86318	D	0.42694876	0.62552	0.39291933	0.64025	0.42694876	0.62553	0.39291933	0.64025	-9.077	0.68191	D	.	.	0.092	0.13597	B	.	.	5.335774	0.89535	30	0.99955982957918199	0.99975	0.90640	0.51984	D	AEFGBI	0.493936	0.52994	N	0.597562829523905	0.73023	5.898732	0.601814469197109	0.75072	6.246172	0.461854708664312	0.20631	0.516011	0.20929	0	0.588764	0.42986	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.47	5.47	0.80345	2.691000	0.46677	9.870000	0.82121	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.702	0.96053	809	0.43032	C2 domain|C2 domain|C2 domain|Ferlin, fifth C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1419.98	33	chr8	124076283	.	G	A	1419.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.29;DP=793;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.49;ReadPosRankSum=1.90;SOR=0.690	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1210	20	0	1	0
chr8	124451744	124451744	G	A	exonic	TRMT12	.	nonsynonymous SNV	TRMT12:NM_017956:exon1:c.G817A:p.A273T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.999	D	0.000	D	1.000	D	2.17	M	1.99	T	-1.000	T	0.126	T	0.638	3.653	18.57	4.68	1.498	8.857	12.500	0.381	0.0553617855373	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1249831830	6.84e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.03	0.54159	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	3.46	0.92336	M	1.99	0.21666	T	-3.77	0.71397	D	0.706	0.70966	-1.0002	0.29860	T	0.126	0.43112	T	10	0.7237978	0.73837	D	0.055362	0.66207	D	0.381	0.69863	0.531	0.63855	0.354648800996	0.35079	0.6594825291430205	0.65885	0.836906938384	0.67851	0.538011074066	0.44164	T	0.074487	0.34951	T	0.0532023	0.58754	T	-0.161355	0.58230	T	0.994779467582703	0.86277	D	0.945705	0.79334	D	0.6257643	0.74072	0.6679644	0.80525	0.6257643	0.74073	0.6679644	0.80526	-11.337	0.81474	D	.	.	0.313	0.54004	B	.	.	5.276126	0.88587	29.7	0.99807024351124818	0.89085	0.88807	0.48915	D	AEFGBCI	0.808589	0.73232	D	0.392836941427613	0.61035	4.299198	0.305297886078929	0.55851	3.747873	0.999999999191475	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.627883	0.49187	0	.	.	5.55	4.68	0.58319	8.972000	0.93001	11.707000	0.94592	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.597000	0.31313	0.0812:0.0:0.9188:0.0	12.500	0.55293	626	0.65439	SAM-dependent methyltransferase TRM5/TYW2-type|SAM-dependent methyltransferase TRM5/TYW2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1707.98	37	chr8	124451744	.	G	A	1707.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.753e+00;DP=925;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=1.21;SOR=0.701	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1261	20	0	1	0
chr8	124543125	124543125	G	T	exonic	NDUFB9	.	nonsynonymous SNV	NDUFB9:NM_001278646:exon2:c.G11T:p.R4L	.	.	.	.	.	.	.	.	.	.	.	711278	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.17	T	1.0	D	0.999	D	0.000	D	1.000	D	1.545	L	-0.39	T	-0.319	T	0.285	T	0.947	5.060	31	5.46	2.559	9.295	19.319	0.735	.	0.0025	0.00439297	0.0008	0.0088	0.0004	0	0	0	0.0022	6.056e-05	0.0008797	136	154602	rs142723791	0.0003	0.0003	0.0004	0.0003	0.0114	0.0003	0.0003	0.0105	0.0101	0.0114	0.0005	0	0	0	0.0014	3.597e-06	0.0008	9.275e-05	0.0026	0.0027	0.0028	0.0025	0.0089	0.0024	0.0023	0.0081	0.0078	0.0089	0	0.0018	0	0	0	0	2.94e-05	0.0024	0	0.001	0.78490	D	0.047	0.53426	D	0.913	0.50474	P	0.876	0.62173	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.45	0.71042	M	-0.39	0.73205	T	-5.51	0.87457	D	0.932	0.93723	-0.3192	0.74444	T	0.285	0.65675	T	10	0.016181588	0.00340	T	.	.	.	0.735	0.90764	.	.	0.912166790898	0.91129	0.7996184900154354	0.79915	0.732811853976	0.62809	0.593811333179	0.52031	T	0.223477	0.58764	T	0.0460576	0.57836	T	0.300063	0.88202	D	0.0520025286031478	0.05848	T	0.953105	0.82105	D	0.7960264	0.83653	0.816585	0.89320	0.83331764	0.86136	0.8567943	0.91962	-7.202	0.55496	T	0.537451207907817	0.60752	0.659	0.71290	P	.;.;.;.	.;.;.;.	5.118152	0.85593	28.6	0.99861054249628745	0.93911	0.97383	0.74401	D	AEFGBHCI	0.962227	0.98375	D	0.760568749831468	0.83592	8.05785	0.780478454418101	0.88404	9.569613	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.46	5.46	0.80021	9.486000	0.96912	5.864000	0.50463	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	19.319	0.94219	889	0.27310	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1136.98	35	chr8	124543125	.	G	T	1136.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.10;DP=798;ExcessHet=0.0000;FS=7.211;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=-3.300e-01;SOR=1.472	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1052	20	0	1	0
chr8	124565686	124565686	A	G	exonic	MTSS1	.	nonsynonymous SNV	MTSS1:NM_001282974:exon9:c.T800C:p.M267T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.974	D	0.643	P	0.000	D	1.000	D	1.61	L	1.57	T	-1.000	T	0.132	T	0.806	2.752	15.16	5.2	2.102	5.560	15.376	0.151	0.0109698175887	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs913749061	9.577e-06	9.577e-06	9.529e-06	9.626e-06	1.169e-05	5.56e-06	4.35e-06	6.52e-06	5.03e-06	0	0	0	0	0	0	1.169e-05	1.656e-05	0	6.57e-06	6.567e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.457	0.10588	T	0.787	0.17696	T	0.458	0.57829	P	0.137	0.52216	B	0.000000	0.84330	D	0.049187	1	0.81001	D	1.975	0.53506	M	1.55	0.42888	T	-1.47	0.41809	N	0.478	0.52029	-0.9999	0.29945	T	0.132	0.44307	T	10	0.19711292	0.35630	T	0.01097	0.28104	T	0.151	0.39764	0.18	0.08751	0.409859612472	0.40601	0.49194119063207203	0.49115	1.00756453028	0.74644	0.779864788055	0.78907	T	0.356903	0.72369	T	0.0767426	0.61657	D	-0.127541	0.61179	T	0.628982603549957	0.37576	D	0.849315	0.64861	T	0.342657	0.56490	0.23602745	0.48863	0.342657	0.56490	0.23602745	0.48862	-7.158	0.64030	T	.	.	0.241	0.55896	B	.;.;.;.;.;.	.;.;.;.;.;.	4.644170	0.73970	26.1	0.98242524392341968	0.39494	0.97493	0.75105	D	AEFDGBI	0.769966	0.70505	D	0.19089959364987	0.50763	3.263206	0.295209892778343	0.55258	3.689123	0.999999980137467	0.74766	0.730579	0.87903	0	0.547309	0.14657	0	0.658983	0.55881	0	0.648885	0.59868	0	.	.	5.2	5.2	0.71720	4.840000	0.62513	11.059000	0.85411	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.376	0.74324	904	0.23766	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1049.98	36	chr8	124565686	.	A	G	1049.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.748e+00;DP=848;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.82;ReadPosRankSum=-5.200e-01;SOR=0.664	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr8	125007483	125007483	T	A	exonic	SQLE	.	nonsynonymous SNV	SQLE:NM_003129:exon4:c.T818A:p.I273N,	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.49	P	0.068	B	0.073	N	1.000	N	1.59	L	0.94	T	-1.046	T	0.070	T	0.129	0.396	6.148	1.4	0.014	0.666	8.832	0.032	0.0194625693944	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs760505492	1.225e-05	1.642e-05	7.115e-06	1.753e-05	0.0002	7.46e-06	6.1e-06	0.0001	9.641e-05	0	0	0	0	0	0.0002	0	1.74e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15984	T	0.303	0.20164	T	0.49	0.36941	P	0.068	0.27651	B	0.072627	0.21397	N	0.532681	1	0.08975	N	2.38	0.68558	M	0.94	0.43672	T	-1.61	0.38734	N	0.292	0.36148	-1.0460	0.15534	T	0.070	0.28609	T	10	0.095998764	0.17186	T	0.019463	0.41828	T	0.032	0.07718	0.448	0.50793	0.176862962021	0.17281	0.4574626654173217	0.45664	0.432731136246	0.43444	0.275802880526	0.06914	T	0.023803	0.87875	T	-0.483189	0.00709	T	-0.607901	0.12156	T	0.0648852764591843	0.07914	T	0.873913	0.58386	D	0.19494224	0.41264	0.12617749	0.30392	0.19494224	0.41264	0.12617749	0.30391	-7.259	0.55903	T	.	.	0.104	0.19438	B	.;.	.;.	1.738194	0.22118	15.49	0.86897664302268729	0.16848	0.28277	0.23510	N	AEFDGBI	0.302352	0.41063	N	-0.905126168603985	0.10721	0.5137219	-0.93184443722755	0.11344	0.5773815	0.999991914846302	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.12	1.4	0.21393	0.671000	0.24853	-0.042000	0.12656	-0.402000	0.05293	0.001000	0.13787	0.000000	0.08366	0.296000	0.24405	0.0:0.5041:0.0:0.4959	8.832	0.34248	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1127.98	118	chr8	125007483	.	T	A	1127.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.607;DP=810;ExcessHet=0.0000;FS=2.392;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.56;ReadPosRankSum=0.123;SOR=0.769	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1090	20	0	1	0
chr8	125009277	125009277	A	G	exonic	SQLE	.	nonsynonymous SNV	SQLE:NM_003129:exon6:c.A1042G:p.I348V,	.	.	440	1061	18	3	0	24	0.0111836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.018	B	0.035	B	0.003	N	0.748	D	0.555	N	.	.	-1.023	T	0.080	T	0.118	0.944	8.847	-4.43	-1.574	1.579	14.105	0.113	.	0.0016	0.00259585	0.0034	0.0001	0.0010	0	0	0.0023	0.0056	0.0144	0.0030853	477	154602	rs199608260	0.0030	0.0030	0.0026	0.0034	0.0139	0.0029	0.0029	0.0133	0.0130	0.0003	0.0009	0.0061	5.04e-05	0.0001	0.0029	0.0025	0.0027	0.0139	0.0017	0.0017	0.0016	0.0019	0.0118	0.0016	0.0015	0.0094	0.0085	0.0002	0	0.0008	0.0055	0	0.0003	0	0.0023	0.0014	0.0118	0.505	0.09687	T	0.827	0.05398	T	0.018	0.17786	B	0.035	0.22741	B	0.002665	0.36137	N	0.347488	0.748238	0.33899	D	0.705	0.18577	N	.	.	.	0.02	0.06739	N	0.102	0.08646	-1.0232	0.22671	T	0.080	0.31556	T	9	0.007342428	0.00167	T	.	.	.	0.113	0.31778	.	.	0.102598925029	0.09809	0.40313914311060073	0.40229	0.21350864514	0.23864	0.233839139342	0.02264	T	0.006144	0.69673	T	-0.560457	0.00252	T	-0.566157	0.15804	T	0.00998537056148052	0.00133	T	0.593441	0.21993	T	0.023919482	0.01174	0.037572183	0.03437	0.023919482	0.01174	0.037572183	0.03437	-4.99	0.36731	T	.	.	0.069	0.03197	B	.;.	.;.	0.261024	0.06395	2.862	0.68150669314228796	0.08570	0.62796	0.31890	D	AEFDGBIJ	0.208641	0.33470	N	-1.28288398061806	0.03881	0.174194	-1.23662953224712	0.05332	0.2538001	0.999998411878671	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.83	-4.43	0.03319	1.577000	0.36124	-0.227000	0.10711	-0.742000	0.03659	0.735000	0.28974	0.000000	0.08366	0.914000	0.44937	0.5864:0.0:0.4136:0.0	14.105	0.64608	923	0.18507	Squalene epoxidase;Squalene epoxidase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	883.11	35	chr8	125009277	.	A	G	883.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.523;DP=790;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.83;ReadPosRankSum=0.605;SOR=0.651	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	19	0	2	0
chr8	125073296	125073296	C	G	exonic	WASHC5	.	nonsynonymous SNV	WASHC5:NM_001330609:exon8:c.G563C:p.R188T	Ritscher-Schinzel syndrome 1, Autosomal recessive;Spastic paraplegia 8, autosomal dominant, Autosomal dominant	.	0	1519	3	0	0	3	0.000986518	.	.	215375	Hereditary_spastic_paraplegia_8|Ritscher-Schinzel_syndrome|not_specified|Inborn_genetic_diseases	MONDO:MONDO:0011339,MedGen:C1863704,OMIM:603563,Orphanet:100989|MONDO:MONDO:0019078,MedGen:C0796137,OMIM:PS220210,Orphanet:7|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.18	T	0.0	B	0.003	B	0.000	D	0.971	N	-0.55	N	-2.03	D	-0.774	T	0.284	T	0.243	1.876	12.23	4.28	0.898	1.949	12.624	0.202	0.0264280477802	0.0002	.	0.0001	0	0	0	0	0.0002	0	0	0.0001164	18	154602	rs150430170	0.0001	0.0001	9.802e-05	0.0001	0.0024	8.781e-05	8.267e-05	0.0015	0.0012	8.962e-05	2.237e-05	0.0018	0	0	0.0024	5.756e-05	0.0003	0	0.0001	0.0001	0.0001	6.713e-05	0.0001	6.506e-05	5.319e-05	2.847e-05	1.858e-05	0	0	0.0001	0.0023	0	0	0.0034	7.35e-05	0	0	0.229	0.18371	T	0.275	0.22016	T	0.0	0.02946	B	0.003	0.08700	B	0.000268	0.46590	D	0.242248	0.970874	0.25682	N	.	.	.	-2.03	0.85613	D	-1.05	0.28906	N	0.371	0.42149	-0.7737	0.56653	T	0.284	0.65586	T	10	0.030617505	0.01189	T	0.026428	0.49337	D	0.202	0.48754	.	.	0.507093260865	0.50349	0.2681600903688332	0.26729	0.35204900141	0.37038	0.398762196302	0.24896	T	0.39072	0.75082	T	-0.15434	0.27635	T	-0.30311	0.44397	T	0.0282099917531013	0.01719	T	0.835616	0.50622	T	0.10875127	0.25712	0.08388064	0.19257	0.10875127	0.25712	0.08388064	0.19257	-3.349	0.14378	T	0.0956347581104726	0.06530	0.089	0.14706	B	.;.	.;.	1.595944	0.20407	14.73	0.65236399482492513	0.07716	0.51131	0.28824	D	AEFGBCI	0.314210	0.41914	N	-0.829164883260676	0.12568	0.6134681	-0.72861187299972	0.16250	0.858744	0.999996829989629	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.06	4.28	0.50183	2.004000	0.40474	2.239000	0.31595	0.599000	0.40250	0.020000	0.19661	0.075000	0.22287	0.731000	0.35132	0.0:0.8674:0.0:0.1326	12.624	0.55977	688	0.59122	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1424.98	65	chr8	125073296	.	C	G	1424.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.840e-01;DP=1062;ExcessHet=0.0000;FS=2.474;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=2.32;SOR=1.005	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr8	125182283	125182283	C	T	exonic	NSMCE2	.	nonsynonymous SNV	NSMCE2:NM_001349487:exon5:c.C445T:p.R149W,	Seckel syndrome 10, Autosomal recessive	.	446	1056	20	0	0	20	0.00938086	.	.	1687667	not_provided|NSMCE2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0060	0.00479233	0.0077	0.0014	0.0075	0.0002	0.0139	0.0104	0.0122	0.0018	0.007115	1100	154602	rs146237502	0.0072	0.0073	0.0073	0.0071	0.0166	0.0071	0.0070	0.0139	0.0129	0.0008	0.0063	0.0017	0.0001	0.0153	0.0166	0.0078	0.0065	0.0018	0.0068	0.0068	0.0071	0.0065	0.0091	0.0065	0.0063	0.0085	0.0082	0.0014	0.0844	0.0065	0.0009	0.0002	0.0147	0.0170	0.0091	0.0076	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999998	0.58761	D	.	.	.	.	.	.	.	.	.	0.185	0.20129	.	.	.	.	.	.	.	0.003978282	0.00077	T	.	.	.	.	.	.	.	0.616972202741	0.61387	.	.	.	.	.	.	.	0.028314	0.20539	T	-0.622412	0.00106	T	-0.651891	0.08822	T	.	.	.	0.441356	0.12220	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27642	B	.;.	.;.	1.589382	0.20330	14.70	0.44958867091869503	0.03494	0.00576	0.02603	N	AEFDGBHI	.	.	.	.	.	.	.	.	.	0.99990377183353	0.45458	0.162113	0.03585	0	0.18701	0.04157	0	0.083675	0.02720	0	0.24566	0.04862	0	0.300578	0.34784	4.69	-1.9	0.07248	0.194000	0.16941	0.132000	0.15059	-1.164000	0.01408	0.958000	0.33488	0.356000	0.24496	0.986000	0.61781	0.0:0.385:0.1741:0.441	4.918	0.13208	840	0.37365	.;.	RP11-158K1.3	Pancreas	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	594.98	36	chr8	125182283	.	C	T	594.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=756;ExcessHet=0.0000;FS=1.080;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.62;ReadPosRankSum=-6.430e-01;SOR=0.990	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1075	20	0	1	0
chr8	126556792	126556792	T	G	exonic	LRATD2	.	nonsynonymous SNV	LRATD2:NM_174911:exon2:c.A598C:p.N200H,	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.989	D	0.000	D	1.000	D	2.485	M	3.73	T	-1.153	T	0.053	T	0.57	3.230	16.83	4.86	1.817	8.036	13.683	0.378	0.0320609631762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.046289	0.999701	0.48408	D	1.955	0.52871	M	3.73	0.03982	T	-4.63	0.79229	D	0.903	0.90363	-1.1526	0.00949	T	0.053	0.22578	T	10	0.8760916	0.86900	D	0.032061	0.53984	D	0.378	0.69612	0.662	0.79996	0.716887018219	0.71440	0.9861756027781464	0.98610	1.83737483121	0.92127	0.808780670166	0.83306	D	0.500939	0.82133	D	-0.0603799	0.42849	T	-0.324508	0.42079	T	0.992413699626923	0.82888	D	0.930207	0.74183	D	0.73101425	0.79781	0.63333565	0.78602	0.73101425	0.79782	0.63333565	0.78603	-12.068	0.85180	D	.	.	0.708	0.73272	P	.	.	5.380585	0.90173	31	0.99357211583352845	0.60862	0.95111	0.63478	D	ALL	0.925633	0.90549	D	0.601240910600146	0.73254	5.936079	0.499101966879308	0.67931	5.150564	1.0	0.98316	0.582742	0.33608	0	0.541168	0.11318	0	0.504199	0.09095	0	0.241949	0.04745	2	.	.	4.86	4.86	0.62624	8.014000	0.88267	7.765000	0.68366	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.316000	0.24877	0.0:0.0:0.0:1.0	13.683	0.61977	962	0.08456	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1122.98	34	chr8	126556792	.	T	G	1122.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.000e-02;DP=804;ExcessHet=0.0000;FS=1.565;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=-3.600e-01;SOR=0.501	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1113	20	0	1	0
chr8	127738855	127738855	C	G	exonic	MYC	.	nonsynonymous SNV	MYC:NM_001354870:exon2:c.C635G:p.P212R	Burkitt lymphoma, Isolated cases	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.725	M	1.01	T	-0.327	T	0.308	T	0.876	3.152	16.54	4.88	2.401	5.513	17.368	0.615	0.0762060227159	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1221801220	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.576e-06	6.567e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.052287	0.999998	0.58761	D	3.275	0.90144	M	1.01	0.41058	T	-6.79	0.92863	D	0.778	0.77507	-0.3274	0.74209	T	0.308	0.67831	T	10	0.9239751	0.91747	D	0.076206	0.72474	D	0.615	0.84986	0.809	0.92581	0.621560015809	0.61849	0.6528075985703793	0.65216	.	.	0.714992403984	0.69316	T	0.544987	0.84488	D	0.260968	0.79618	D	0.137086	0.79355	D	0.996220886707306	0.88912	D	0.935106	0.75644	D	0.5903562	0.72170	0.453574	0.68222	0.5903562	0.72171	0.453574	0.68222	-4.075	0.24920	T	0.3178454936435209	0.41592	0.642	0.70601	P	.;.;.;.;.	.;.;.;.;.	4.830575	0.78774	27.0	0.99767021410782575	0.85583	0.99198	0.92678	D	AEFDGBHCI	.	.	.	0.679497316968253	0.78290	6.841638	0.581149936540404	0.73589	5.995257	0.999999999997495	0.74766	0.72623	0.87236	0	0.672317	0.65289	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	4.88	4.88	0.63131	5.768000	0.68510	7.475000	0.59195	0.520000	0.23804	1.000000	0.71638	1.000000	0.68203	0.660000	0.32968	0.0:1.0:0.0:0.0	17.368	0.87258	962	0.08456	Transcription regulator Myc, N-terminal;Transcription regulator Myc, N-terminal;Transcription regulator Myc, N-terminal;Transcription regulator Myc, N-terminal;Transcription regulator Myc, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	999.98	33	chr8	127738855	.	C	G	999.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.628;DP=844;ExcessHet=0.0000;FS=11.621;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.35;ReadPosRankSum=-1.050e-01;SOR=1.750	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,110,1513	20	0	1	0
chr8	131955782	131955784	CTT	-	exonic	EFR3A	.	nonframeshift deletion	EFR3A:NM_001323553:exon7:c.545_547del:p.S184del	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019	.	0.0001	9.623e-05	8.676e-05	0	0.0002	7.497e-05	0.0011	0.0005	0.00011	17	154602	rs370171637	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	9.974e-05	0.0005	0.0005	2.99e-05	6.717e-05	0	0.0002	0.0002	0.0005	8.189e-05	3.316e-05	0.0007	9.197e-05	9.187e-05	6.426e-05	0.0001	0.0002	5.526e-05	4.364e-05	3.763e-05	2.576e-05	2.407e-05	0	0.0001	0	0.0002	0.0003	0	8.823e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	861.94	33	chr8	131955781	.	CCTT	C	861.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.96;DP=750;ExcessHet=0.0000;FS=2.249;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.90;ReadPosRankSum=-9.450e-01;SOR=1.082	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1107	20	0	1	0
chr8	132003281	132003281	A	G	exonic	EFR3A	.	nonsynonymous SNV	EFR3A:NM_001323553:exon22:c.A2248G:p.I750V	.	.	418	1085	19	0	0	19	0.00867976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.006	B	0.024	B	0.000	N	1.000	D	2.045	M	1.53	T	-1.087	T	0.051	T	0.142	1.200	9.877	3.08	0.465	4.489	9.118	0.075	0.00889147433088	0.0038	0.00239617	0.0045	0.0011	0.0064	0	0.0003	0.0063	0.0088	0.0016	0.0045019	696	154602	rs147579193	0.0060	0.0060	0.0061	0.0059	0.0070	0.0059	0.0058	0.0069	0.0069	0.0009	0.0063	0.0021	2.526e-05	0.0005	0.0061	0.0070	0.0058	0.0017	0.0044	0.0044	0.0043	0.0045	0.0089	0.0041	0.0040	0.0077	0.0072	0.0012	0.0176	0.0089	0.0029	0	0.0002	0.0068	0.0064	0.0062	0.0008	0.388	0.10909	T	0.41	0.14544	T	0.006	0.13644	B	0.024	0.20255	B	0.000001	0.84330	N	0.089876	0.999982	0.54805	D	1.995	0.54099	M	1.53	0.30401	T	-0.3	0.11913	N	0.334	0.37509	-1.0873	0.05995	T	0.051	0.21495	T	10	0.006929666	0.00157	T	0.008891	0.23439	T	0.075	0.21907	.	.	0.215869574891	0.21205	0.31041666110087357	0.30954	0.0537663119061	0.05938	0.534680366516	0.43693	T	0.003596	0.06790	T	-0.527604	0.00397	T	-0.524245	0.19865	T	0.0162182734190474	0.00396	T	0.785921	0.42389	T	0.047587257	0.08158	0.052349526	0.08607	0.047587257	0.08157	0.052349526	0.08606	-2.765	0.07865	T	.	.	0.101	0.32299	B	.;.;.	.;.;.	3.031683	0.40608	21.2	0.95113376504569735	0.26202	0.98256	0.80988	D	AEFGBI	0.546098	0.56034	D	-0.266557777652939	0.30448	1.697848	-0.162233678068028	0.32940	1.879106	0.909109245816487	0.26302	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	3.08	0.34576	4.355000	0.59199	7.086000	0.57489	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.8517:0.0:0.1483:0.0	9.118	0.35928	889	0.27310	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1269.98	97	chr8	132003281	.	A	G	1269.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=805;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.09;ReadPosRankSum=0.147;SOR=0.634	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1159	20	0	1	0
chr8	132010871	132010871	G	C	exonic	EFR3A	.	nonsynonymous SNV	EFR3A:NM_001323553:exon23:c.G2334C:p.K778N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	1.0	D	0.997	D	0.000	D	1.000	D	1.115	L	1.39	T	-1.032	T	0.165	T	0.358	3.812	19.36	6.02	2.857	7.403	19.525	0.153	0.0112115321271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.09291	T	0.331	0.18505	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.045609	1	0.81001	D	1.5	0.37844	L	1.39	0.33842	T	-1.42	0.34992	N	0.644	0.66187	-1.0316	0.19937	T	0.165	0.50323	T	10	0.3977828	0.55351	T	0.011212	0.28600	T	0.153	0.40148	0.323	0.30387	0.671013503938	0.66823	0.5213184564664413	0.52054	0.403179438654	0.41262	0.826878428459	0.86083	D	0.01412	0.19191	T	-0.0782944	0.39993	T	-0.350241	0.39179	T	0.901563823223114	0.55432	D	0.946205	0.79443	D	0.38296613	0.59530	0.24603723	0.50104	0.38296613	0.59531	0.24603723	0.50103	-8.505	0.64462	D	.	.	0.885	0.86088	P	.;.;.	.;.;.	4.272375	0.65018	24.8	0.9978335014773505	0.86955	0.98829	0.87402	D	AEFGBI	0.883251	0.81200	D	0.678002983385951	0.78189	6.822127	0.731837545398783	0.84796	8.392965	0.999999999974235	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.727631	0.95156	0	.	.	6.02	6.02	0.97559	7.394000	0.79135	4.508000	0.43636	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.525	0.95196	871	0.31377	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	690.63	84	chr8	132010871	.	G	C	690.63	.	AC=7;AF=0.250;AN=28;BaseQRankSum=-3.452e+00;DP=3010;ExcessHet=2.5830;FS=194.769;InbreedingCoeff=-0.3327;MLEAC=9;MLEAF=0.321;MQ=60.00;MQRankSum=0.00;QD=0.65;ReadPosRankSum=1.12;SOR=12.620	GT:AD:DP:GQ:PL	0/1:113,45:158:99:181,0,1814	7	0	7	7
chr8	132031953	132031953	G	A	exonic	OC90	.	nonsynonymous SNV	OC90:NM_001080399:exon12:c.C959T:p.P320L,	.	.	430	1083	9	0	0	9	0.00413793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	1.0	D	1.0	D	0.000	D	1.000	D	1.81	L	1.89	T	-0.991	T	0.159	T	0.93	4.243	22.1	5.91	2.793	7.932	18.862	0.456	0.0338110008956	0.0003	0.00119808	0.0006	0.0002	0	0.0001	0	4.497e-05	0	0.0038	0.0005498	85	154602	rs201874447	0.0004	0.0004	0.0002	0.0005	0.0044	0.0003	0.0003	0.0041	0.0039	0.0001	0.0001	0	5.038e-05	0	0.0019	8.185e-05	0.0004	0.0044	0.0003	0.0003	0.0002	0.0004	0.0058	0.0002	0.0002	0.0041	0.0036	0.0002	0	6.539e-05	0	0.0002	0	0	0.0001	0	0.0058	0.002	0.72154	D	0.011	0.69154	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.89	0.23688	T	-7.08	0.93927	D	0.889	0.91505	-0.9905	0.32475	T	0.159	0.49195	T	10	0.06642255	0.09108	T	0.033811	0.55241	D	0.456	0.75483	.	.	0.361758802978	0.35793	0.8661686252704046	0.86581	0.0107950910863	0.01002	0.501828849316	0.39083	T	.	.	.	-0.0682506	0.41606	T	0.128348	0.78784	D	0.239477064020717	0.22395	T	0.911209	0.73561	D	0.6543038	0.75594	0.6389955	0.78914	0.6543038	0.75595	0.6389955	0.78915	-12.705	0.88111	D	.	.	0.626	0.70215	P	.;.	.;.	5.072076	0.84603	28.4	0.99887813455180696	0.96281	0.97238	0.73508	D	AEFGBI	0.863291	0.78179	D	0.765978048873095	0.83941	8.151183	0.752386034198065	0.86336	8.856238	0.999999789158464	0.74766	0.638212	0.43195	0	0.563428	0.19063	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.91	5.91	0.95240	8.005000	0.88076	11.703000	0.94531	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.395000	0.26670	0.0:0.0:1.0:0.0	18.862	0.92247	819	0.41190	Phospholipase A2 domain|Phospholipase A2 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1068.98	34	chr8	132031953	.	G	A	1068.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.559;DP=778;ExcessHet=0.0000;FS=0.806;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=0.382;SOR=0.839	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1390	20	0	1	0
chr8	132129575	132129575	G	T	exonic	KCNQ3	.	nonsynonymous SNV	KCNQ3:NM_001204824:exon15:c.C1946A:p.P649H	Seizures, benign neonatal, type 2, Autosomal dominant	.	0	1517	4	1	0	6	0.00197368	.	.	141754	Benign_Neonatal_Epilepsy|Inborn_genetic_diseases|not_specified|Benign_neonatal_seizures|Seizures,_benign_familial_neonatal,_2|not_provided	MedGen:C0270851|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0016027,MedGen:C0220669,OMIM:PS121200,Orphanet:1949|MONDO:MONDO:0007366,MedGen:C1852581,OMIM:121201,Orphanet:1949|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.27	T	0.998	D	0.947	D	0.000	D	0.997	D	0	N	-5.28	D	0.655	D	0.824	D	0.268	3.034	16.12	5.14	2.379	2.236	17.586	0.345	.	0.0095	0.00638978	0.0027	0.0223	0.0029	0	0.0002	0.0008	0.0022	0.0002	0.0025744	398	154602	rs114095081	0.0013	0.0013	0.0014	0.0013	0.0218	0.0013	0.0012	0.0205	0.0200	0.0218	0.0037	0.0030	0	0.0001	0.0146	0.0006	0.0031	0.0001	0.0065	0.0065	0.0066	0.0063	0.0203	0.0062	0.0060	0.0191	0.0187	0.0203	0	0.0053	0.0026	0	0.0002	0.0272	0.0004	0.0066	0.0004	0.02	0.49613	D	0.108	0.37872	T	0.998	0.73220	D	0.947	0.68407	D	0.000303	0.45977	D	0.150076	0.996603	0.43303	D	1.1	0.28011	L	-5.31	0.98998	D	-0.9	0.24244	N	0.353	0.62526	0.655	0.92603	D	0.824	0.94100	D	10	0.008564889	0.00194	T	.	.	.	0.345	0.66676	.	.	0.431535674109	0.42773	0.34340638600876117	0.34253	0.423344336073	0.42799	0.352232038975	0.18250	T	0.329812	0.70007	T	-0.239151	0.15456	T	-0.0993799	0.63445	T	0.0280471244888582	0.01694	T	0.833117	0.50161	T	0.15274696	0.34659	0.12979625	0.31201	0.16285554	0.36388	0.124412335	0.29987	-4.53	0.31279	T	.	.	0.088	0.17146	B	.;.;.;.;.	.;.;.;.;.	2.426100	0.31206	18.67	0.99574911267503285	0.72621	0.97957	0.78421	D	AEFDGBI	0.528952	0.55026	D	0.207523211153108	0.51562	3.336546	0.216489595099467	0.50761	3.264868	0.999629318508506	0.41093	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.14	5.14	0.70008	2.460000	0.44689	5.171000	0.47828	-0.110000	0.15115	0.997000	0.40164	1.000000	0.68203	0.114000	0.18915	0.0:0.0:1.0:0.0	17.586	0.87880	904	0.23766	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2390.98	37	chr8	132129575	.	G	T	2390.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=873;ExcessHet=0.0000;FS=1.222;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.49;ReadPosRankSum=-9.200e-01;SOR=0.570	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1267	20	0	1	0
chr8	132751899	132751899	A	G	exonic	TMEM71	.	nonsynonymous SNV	TMEM71:NM_001145153:exon4:c.T200C:p.L67P	.	.	432	1084	6	0	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.36	M	.	.	-0.073	T	0.440	T	0.996	4.470	23.9	5.81	2.214	7.885	13.913	0.773	0.0319489724808	.	0.000199681	0.0001	0	0	0	0	4.495e-05	0	0.0006	9.06e-05	14	154602	rs575105256	3.557e-05	3.557e-05	2.178e-05	4.951e-05	0.0004	2.762e-05	2.501e-05	0.0003	0.0002	0	2.236e-05	0	0	0	0	1.349e-05	6.624e-05	0.0004	3.94e-05	3.937e-05	2.57e-05	5.372e-05	0.0004	1.715e-05	1.129e-05	7.293e-05	3.03e-05	0	0	0	0	0	0	0	4.41e-05	0.0005	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.000000	1	0.81001	D	2.34	0.67151	M	.	.	.	-6.68	0.93697	D	0.979	0.98929	-0.0730	0.80710	T	0.440	0.77846	T	9	0.58072865	0.65834	D	0.031949	0.53903	D	0.773	0.92378	0.564	0.68499	0.219573609325	0.21563	0.4444639105667158	0.44364	0.348190873874	0.36693	0.610494315624	0.54386	T	.	.	.	0.222057	0.75970	D	0.403159	0.92213	D	0.779234409332275	0.45003	D	0.908709	0.67676	D	.	.	.	.	.	.	.	.	-3.837	0.24311	T	.	.	0.890	0.83288	P	.;.;.;.;.	.;.;.;.;.	4.877520	0.79967	27.2	0.99904056395706442	0.97502	0.98003	0.78791	D	AEFBI	0.953248	0.96938	D	0.842820141350749	0.88695	9.676231	0.823431868291715	0.91371	10.854	0.999993582525963	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.81	5.81	0.92413	7.735000	0.83874	10.993000	0.84699	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	13.913	0.63385	876	0.30350	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3532.98	33	chr8	132751899	.	A	G	3532.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.240e-01;DP=1000;ExcessHet=0.0000;FS=3.938;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=0.092;SOR=0.932	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1261	20	0	1	0
chr8	132804005	132804005	G	C	exonic	PHF20L1	.	nonsynonymous SNV	PHF20L1:NM_001277196:exon6:c.G616C:p.D206H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.951	P	0.748	P	0.143	N	1.000	D	0	N	1.46	T	-0.812	T	0.133	T	0.211	3.663	18.62	5.44	2.563	7.159	18.256	0.133	0.0217428298653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0042	0.0012	0.0011	0.0014	0.0011	0.0011	0.0014	0.0013	0.0008	6.755e-05	0.0005	0.0002	0.0001	0.0005	0.0014	0.0012	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.061	0.60337	T	0.808	0.45299	P	0.748	0.55971	P	0.142512	0.18241	N	0.607210	0.990395	0.81001	D	0	0.06538	N	0.79	0.49358	T	-2.41	0.52938	N	0.218	0.33140	-0.8119	0.54435	T	0.133	0.44622	T	10	0.1628164	0.30505	T	0.021743	0.44549	T	0.133	0.36157	0.088	0.00943	0.110392049598	0.10638	0.3606634752202491	0.35980	0.966220291154	0.73190	0.357738494873	0.19055	T	0.078333	0.35868	T	-0.114604	0.34010	T	-0.402397	0.33106	T	0.784143755589366	0.45311	D	0.943306	0.81134	D	0.2447809	0.47430	0.25823152	0.51552	0.2447809	0.47430	0.25823152	0.51551	-6.4	0.58645	T	.	.	0.217	0.48948	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.821248	0.78525	26.9	0.99493893563194913	0.67630	0.98845	0.87614	D	AEFDBI	0.837614	0.75522	D	0.361968079601839	0.59374	4.116332	0.491946387230629	0.67454	5.086353	0.999743363373417	0.42466	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	7.656000	0.82725	11.836000	0.97677	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.256	0.89958	887	0.27948	Domain of unknown function DUF3776;Domain of unknown function DUF3776;Domain of unknown function DUF3776;Domain of unknown function DUF3776;.;Domain of unknown function DUF3776;Domain of unknown function DUF3776	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	132.79	34	chr8	132804005	.	G	C	132.79	.	AC=3;AF=0.100;AN=30;BaseQRankSum=-2.844e+00;DP=1194;ExcessHet=0.3300;FS=125.612;InbreedingCoeff=-0.1665;MLEAC=4;MLEAF=0.133;MQ=60.00;MQRankSum=0.00;QD=0.83;ReadPosRankSum=0.472;SOR=9.270	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,11:56:52:.:.:0,52,915	12	0	3	6
chr8	132832298	132832298	G	A	exonic	PHF20L1	.	nonsynonymous SNV	PHF20L1:NM_001277196:exon14:c.G1730A:p.R577Q	.	.	435	1073	13	1	0	15	0.00694123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.999	D	0.905	P	0.976	N	1.000	D	1.61	L	1.43	T	-1.121	T	0.107	T	0.651	4.574	24.8	5.56	2.781	5.576	13.801	0.186	0.0168963482274	0.0066	0.00299521	0.0058	0.0013	0.0032	0.0001	0.0035	0.0083	0.0044	0.0041	0.0057891	895	154602	rs184113048	0.0069	0.0070	0.0070	0.0068	0.0077	0.0068	0.0067	0.0071	0.0071	0.0014	0.0030	0.0306	2.522e-05	0.0031	0.0077	0.0072	0.0071	0.0046	0.0055	0.0055	0.0057	0.0053	0.0075	0.0052	0.0050	0.0069	0.0067	0.0016	0.0164	0.0043	0.0288	0.0002	0.0023	0.0034	0.0075	0.0090	0.0068	0.024	0.47745	D	0.552	0.10607	T	0.999	0.77913	D	0.805	0.64260	P	0.976270	0.07811	N	1.011250	0.956549	0.81001	D	1.67	0.42885	L	1.43	0.33189	T	-1.01	0.26639	N	0.508	0.54932	-1.1205	0.02300	T	0.107	0.38906	T	10	0.005623758	0.00125	T	0.016896	0.38370	T	0.186	0.46104	.	.	0.252829632966	0.24901	0.31513647659765553	0.31426	1.0380228498	0.75678	0.527626991272	0.42700	T	0.042495	0.26201	T	-0.308384	0.07891	T	-0.210621	0.53635	T	0.0264858954856633	0.01472	T	0.952605	0.81930	D	0.14426984	0.33123	0.07464005	0.16349	0.14426984	0.33122	0.07464005	0.16348	-5.518	0.42036	T	.	.	0.140	0.41693	B	.;.;.;.	.;.;.;.	4.849847	0.79257	27.1	0.99952916899670441	0.99957	0.93226	0.57654	D	AEFGBI	0.657627	0.62919	D	0.583426757808675	0.72142	5.759171	0.618176375016445	0.76261	6.458329	0.999999951649826	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.56	5.56	0.83678	5.646000	0.67590	11.891000	0.99093	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8469:0.1531	13.801	0.62692	874	0.30607	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1315.98	42	chr8	132832298	.	G	A	1315.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.413;DP=921;ExcessHet=0.0000;FS=1.330;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.14;ReadPosRankSum=0.404;SOR=0.618	GT:AD:DP:GQ:PL	0/1:83,61:144:99:1330,0,1904	20	0	1	0
chr8	132886939	132886939	T	C	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon9:c.T1567C:p.S523P,	Thyroid dyshormonogenesis 3, Autosomal recessive	.	0	1505	15	2	0	19	0.0062727	.	.	304281	not_specified|Iodotyrosyl_coupling_defect|not_provided|TG-related_disorder	MedGen:CN169374|MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.33	T	0.049	B	0.026	B	0.289	N	1.000	N	1.43	L	-0.4	T	-0.982	T	0.222	T	0.112	-0.527	1.599	2.46	0.350	1.501	6.353	0.079	0.0206104247853	0.0029	0.000998403	0.0018	0.0003	0.0007	0	0.0002	0.0028	0.0022	0.0008	0.0017723	274	154602	rs116062097	0.0019	0.0019	0.0019	0.0019	0.0087	0.0018	0.0018	0.0068	0.0061	0.0006	0.0008	0.0031	0	5.617e-05	0.0087	0.0021	0.0021	0.0008	0.0014	0.0014	0.0015	0.0012	0.0024	0.0012	0.0011	0.0021	0.0020	0.0003	0	0.0005	0.0029	0	0.0002	0.0034	0.0024	0.0019	0.0006	0.247	0.17296	T	0.067	0.44302	T	0.049	0.22227	B	0.026	0.20792	B	0.289047	0.03882	N	1.502520	1	0.08975	N	1.995	0.54099	M	-0.4	0.69287	T	-1.76	0.41618	N	0.153	0.15749	-0.9815	0.34655	T	0.222	0.58562	T	10	0.0060213506	0.00135	T	0.02061	0.43239	T	0.079	0.23065	.	.	0.722373723594	0.71992	0.35451637462755203	0.35365	0.0940562146519	0.10619	0.293794035912	0.09479	T	0.074687	0.34999	T	-0.513533	0.00479	T	-0.513796	0.20926	T	0.00864752536355415	0.00106	T	0.523848	0.17156	T	0.14531259	0.33316	0.14367796	0.34137	0.14531259	0.33315	0.14367796	0.34136	-3.489	0.16278	T	0.2998762853252377	0.39717	0.072	0.04080	B	.	.	0.865464	0.12382	8.918	0.95039178757206766	0.26044	0.27525	0.23302	N	AEFGBI	0.185672	0.31299	N	-0.749600712677565	0.14644	0.7312262	-0.760726148933842	0.15460	0.8131534	0.333198341306732	0.19506	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.87	2.46	0.29032	1.597000	0.36340	0.142000	0.15184	0.665000	0.62972	0.515000	0.27072	0.000000	0.08366	0.001000	0.02609	0.0:0.085:0.1598:0.7552	6.353	0.20594	850	0.35610	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1549.98	38	chr8	132886939	.	T	C	1549.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.792e+00;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=0.187;SOR=0.657	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1280	20	0	1	0
chr8	133102554	133102554	G	A	exonic	SLA	.	nonsynonymous SNV	SLA:NM_001045557:exon1:c.C10T:p.R4W	.	.	426	1088	7	1	0	9	0.00411899	0	0.024	2828538	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.946	P	0.18	B	.	.	1.000	N	.	.	2.16	T	-0.819	T	0.168	T	0.059	2.806	15.34	-4.28	-0.805	0.025	1.683	0.107	.	0.0046	0.00199681	0.0032	0.0023	0.0024	0	0	0.0039	0.0105	0.0029	0.0013001	201	154602	rs186646388	0.0050	0.0048	0.0050	0.0050	0.0058	0.0049	0.0049	0.0057	0.0057	0.0008	0.0017	0.0014	8.394e-05	0.0026	0.0021	0.0058	0.0037	0.0026	0.0037	0.0037	0.0040	0.0034	0.0062	0.0035	0.0034	0.0057	0.0055	0.0012	0.0219	0.0022	0.0017	0.0004	0.0023	0.0068	0.0062	0.0005	0.0021	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.994535	0.81001	D	.	.	.	-1.34	0.79944	T	-0.19	0.14390	N	0.121	0.16308	-0.8188	0.54009	T	0.168	0.50681	T	8	0.00686118	0.00156	T	.	.	.	0.107	0.30369	.	.	0.102598925029	0.09809	.	.	.	.	.	.	.	.	.	.	-0.501485	0.00561	T	-0.482737	0.24156	T	0.0658339253132563	0.08053	T	0.589941	0.21689	T	.	.	.	.	.	.	.	.	-3.926	0.22693	T	.	.	0.222	0.45285	B	.;.	.;.	0.592077	0.09604	6.379	0.9944515399919327	0.64971	0.05817	0.11756	N	AEFDGBCIJ	0.154220	0.27921	N	-0.829297387980121	0.12565	0.6132792	-1.03678240236627	0.08984	0.4445469	0.999999061036408	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.37	-4.28	0.03475	-0.095000	0.11043	-0.640000	0.08082	-0.748000	0.03609	0.033000	0.20612	0.000000	0.08366	0.064000	0.16252	0.1169:0.2026:0.2748:0.4057	1.683	0.02665	829	0.39537	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1340.98	39	chr8	133102554	.	G	A	1340.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.782e+00;DP=845;ExcessHet=0.0000;FS=2.827;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=-2.170e-01;SOR=0.429	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr8	134602073	134602073	G	A	exonic	ZFAT	.	nonsynonymous SNV	ZFAT:NM_001174157:exon5:c.C1460T:p.P487L	.	.	403	1117	2	0	0	2	0.000894454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.001	B	0.001	B	0.970	N	1.000	N	0.205	N	3.2	T	-0.915	T	0.014	T	0.094	-0.483	1.777	3.09	0.323	0.235	7.971	0.015	.	.	0.00319489	0.0022	0	0.0002	0.0008	0	0.0002	0.0075	0.0135	0.00174	269	154602	rs202155119	0.0008	0.0008	0.0004	0.0012	0.0113	0.0008	0.0007	0.0107	0.0104	2.99e-05	0	0.0009	0.0002	3.838e-05	0.0003	9.9e-05	0.0009	0.0113	0.0005	0.0005	0.0004	0.0006	0.0124	0.0004	0.0004	0.0099	0.0090	0	0	0	0.0009	0.0004	0	0	0.0001	0.0014	0.0124	0.794	0.05436	T	0.65	0.06738	T	0.001	0.07471	B	0.001	0.04355	B	0.970218	0.08164	N	0.986238	1	0.08975	N	0.11	0.08516	N	3.2	0.08014	T	-0.66	0.25986	N	0.064	0.04790	-0.9151	0.46207	T	0.014	0.05608	T	10	0.0028042197	0.00044	T	.	.	.	0.015	0.02232	0.312	0.28612	0.112648838833	0.10856	0.10679906818570725	0.10609	0.258302563221	0.28385	0.24098727107	0.02880	T	0.012584	0.31873	T	-0.708946	0.00032	T	-0.780741	0.02431	T	0.00603452469084682	0.00066	T	0.80472	0.45238	T	0.023799147	0.01152	0.025635429	0.00615	0.023799147	0.01152	0.025635429	0.00615	-3.689	0.19156	T	.	.	0.065	0.02342	B	.;.;.;.;.;.	.;.;.;.;.;.	0.484808	0.08540	5.306	0.69504370162010909	0.08993	0.02689	0.07326	N	ALL	0.028209	0.02443	N	-1.13143862951588	0.06091	0.2794571	-1.07121802744512	0.08270	0.4059255	0.9999999994297	0.74766	0.638212	0.43195	0	0.484254	0.07192	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	6.07	3.09	0.34677	0.386000	0.20429	0.578000	0.19676	-0.116000	0.14526	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3904:0.0:0.6096:0.0	7.971	0.29291	982	0.03397	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1363.98	33	chr8	134602073	.	G	A	1363.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.24;DP=838;ExcessHet=0.0000;FS=1.632;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.21;ReadPosRankSum=-4.620e-01;SOR=0.538	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr8	134637595	134637595	G	A	exonic	ZFAT	.	nonsynonymous SNV	ZFAT:NM_001167583:exon3:c.C278T:p.P93L	.	.	419	1093	10	0	0	10	0.00455373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.004	B	0.001	B	0.642	N	1.000	N	0.55	N	3.15	T	-1.026	T	0.067	T	0.193	-0.006	3.983	2.36	0.573	1.913	10.091	0.047	0.0137744748591	0.0026	0.000399361	0.0032	0.0004	0.0012	0.0010	0.0008	0.0046	0.0033	0.0027	0.0030595	473	154602	rs146684203	0.0034	0.0034	0.0034	0.0034	0.0040	0.0033	0.0033	0.0036	0.0035	0.0006	0.0009	0.0096	0.0005	0.0020	0.0040	0.0037	0.0031	0.0030	0.0024	0.0024	0.0027	0.0022	0.0041	0.0022	0.0021	0.0037	0.0035	0.0006	0	0.0005	0.0092	0.0004	0.0013	0.0034	0.0041	0.0024	0.0015	0.149	0.25873	T	0.17	0.57104	T	0.004	0.12183	B	0.001	0.04355	B	0.642362	0.10587	N	0.833922	1	0.08975	N	1.7	0.43825	L	3.15	0.40749	T	-1.14	0.85247	N	0.108	0.11769	-1.0261	0.21723	T	0.067	0.27399	T	10	0.003590554	0.00065	T	0.013774	0.33422	T	0.047	0.12962	.	.	0.107399877778	0.10242	0.1345104382100156	0.13375	0.258302563221	0.28385	0.262367069721	0.05175	T	0.020214	0.44156	T	-0.559637	0.00255	T	-0.572931	0.15182	T	0.00435093853817475	0.00046	T	0.731327	0.36245	T	0.02190634	0.00819	0.032731384	0.02054	0.02190634	0.00819	0.032731384	0.02053	-3.617	0.21719	T	.	.	0.066	0.03552	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.908816	0.12830	9.345	0.66891786308827916	0.08192	0.11759	0.16843	N	AEFDGBI	0.068430	0.13498	N	-1.06053826346925	0.07382	0.3427704	-1.03567667578617	0.09008	0.4458205	0.999959064877607	0.48110	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.15	2.36	0.28258	1.983000	0.40270	0.767000	0.21364	-0.127000	0.13314	0.020000	0.19661	0.000000	0.08366	0.007000	0.07825	0.2241:0.0:0.7759:0.0	10.091	0.41620	980	0.04108	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1576.98	33	chr8	134637595	.	G	A	1576.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.399;DP=826;ExcessHet=0.0000;FS=9.662;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=0.721;SOR=1.130	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1267	20	0	1	0
chr8	138152431	138152431	T	C	exonic	FAM135B	.	nonsynonymous SNV	FAM135B:NM_001362965:exon13:c.A2044G:p.I682V	.	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.018	B	0.01	B	0.752	N	1.000	N	0.475	N	2.67	T	-0.960	T	0.014	T	0.053	-0.104	3.491	-11.3	-2.736	-1.057	13.294	0.056	.	.	0.00379393	0.0025	0	0	0.0003	0	4.503e-05	0	0.0182	0.0021345	330	154602	rs369394840	0.0012	0.0012	0.0007	0.0018	0.0191	0.0012	0.0011	0.0183	0.0180	0	2.236e-05	0.0005	0	0	0.0012	1.169e-05	0.0012	0.0191	0.0006	0.0006	0.0002	0.0010	0.0166	0.0005	0.0005	0.0137	0.0126	4.81e-05	0	6.532e-05	0.0014	0.0002	0	0.0034	1.47e-05	0	0.0166	0.549	0.06606	T	0.968	0.02496	T	0.0	0.02946	B	0.001	0.04355	B	0.751816	0.09694	N	0.894418	1	0.08975	N	0.895	0.22405	L	2.67	0.12473	T	0.12	0.05604	N	0.03	0.00717	-0.9596	0.39255	T	0.014	0.05561	T	10	0.0016076863	0.00019	T	.	.	.	0.056	0.15993	0.119	0.02647	0.128874641272	0.12493	0.2559907786949868	0.25513	0.0557266103927	0.06161	0.294885903597	0.09641	T	0.026145	0.19408	T	-0.738647	0.00021	T	-0.819512	0.01462	T	0.0155614212267995	0.00354	T	0.467153	0.13745	T	0.036653947	0.04550	0.043012496	0.05255	0.036653947	0.04550	0.043012496	0.05254	-4.568	0.31767	T	.	.	0.065	0.01960	B	.	.	-1.262871	0.00471	0.010	0.43428493565143444	0.03269	0.02999	0.07862	N	AEFDBI	0.083678	0.16954	N	-1.93669502798894	0.00288	0.01236904	-2.00805320689024	0.00295	0.01300601	0.992504799752568	0.32863	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.65	-11.3	0.00084	-1.030000	0.03692	-3.140000	0.03027	-1.405000	0.01138	0.000000	0.06391	0.000000	0.08366	0.631000	0.32184	0.0:0.3284:0.4903:0.1812	13.294	0.59724	957	0.09725	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2343.98	34	chr8	138152431	.	T	C	2343.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.712e+00;DP=1927;ExcessHet=0.0000;FS=1.882;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=2.68;SOR=0.695	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1148	20	0	1	0
chr8	138660465	138660465	G	C	exonic	COL22A1	.	nonsynonymous SNV	COL22A1:NM_152888:exon44:c.C3256G:p.P1086A,	.	.	426	1071	25	0	0	25	0.0115367	.	.	2828545	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.28	T	0.999	D	0.998	D	0.000	U	1.000	D	1.51	L	-3.54	D	0.681	D	0.856	D	0.345	2.603	14.67	4.83	2.677	4.807	13.607	0.523	.	0.0037	0.00199681	0.0040	0.0011	0.0039	0	0.0015	0.0048	0.0132	0.0051	0.0037645	582	154602	rs117256395	0.0044	0.0045	0.0043	0.0045	0.0068	0.0043	0.0043	0.0051	0.0046	0.0009	0.0041	0.0062	0	0.0013	0.0068	0.0047	0.0045	0.0050	0.0030	0.0030	0.0033	0.0027	0.0054	0.0028	0.0027	0.0041	0.0039	0.0011	0	0.0028	0.0058	0	0.0008	0.0102	0.0045	0.0024	0.0054	0.086	0.34095	T	0.042	0.50226	D	0.999	0.77913	D	0.998	0.88582	D	0.000140	0.49741	U	0.000000	0.999557	0.47544	D	1.88	0.49984	L	-3.54	0.96496	D	-1.94	0.55025	N	0.46	0.49874	0.681	0.92939	D	0.856	0.95204	D	10	0.017681658	0.00379	T	.	.	.	0.523	0.79765	.	.	0.517322629239	0.51374	0.12309014687166302	0.12235	0.0815505204476	0.09179	0.416055500507	0.27293	T	0.356027	0.72294	T	-0.18383	0.23168	T	-0.0345005	0.68070	D	0.0200992893160268	0.00711	T	0.946905	0.79612	D	0.0936957	0.22012	0.12426999	0.29956	0.0936957	0.22011	0.12426999	0.29955	-7.489	0.59015	T	.	.	0.070	0.06756	B	.;.	.;.	3.409903	0.47294	22.4	0.98547420195322977	0.42795	0.95421	0.64654	D	AEFI	0.395496	0.47233	N	0.570444082780102	0.71337	5.635337	0.557938033373185	0.71950	5.733772	0.048890417617057	0.14785	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.83	4.83	0.61880	4.098000	0.57478	8.384000	0.77072	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.757000	0.36037	0.0:0.0:1.0:0.0	13.607	0.61520	963	0.08280	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	789.98	34	chr8	138660465	.	G	C	789.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.10;DP=915;ExcessHet=0.0000;FS=4.338;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.13;ReadPosRankSum=-1.472e+00;SOR=0.937	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1620	20	0	1	0
chr8	139618956	139618956	T	C	exonic	KCNK9	.	nonsynonymous SNV	KCNK9:NM_001282534:exon2:c.A427G:p.I143V,	Birk-Barel mental retardation dysmorphism syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.003	B	0.001	N	0.996	D	0.205	N	1.95	T	-1.001	T	0.020	T	0.131	-0.820	0.623	2.2	0.455	3.827	5.394	0.036	0.00285896538679	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1321749969	8.209e-06	8.209e-06	4.084e-06	1.238e-05	0.0002	4.38e-06	3.46e-06	5.395e-05	4.042e-05	0	0	0	2.519e-05	0	0.0002	0	1.656e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.001226	0.39743	N	0.249479	0.99618	0.43063	D	0.74	0.18910	N	1.95	0.22474	T	-0.04	0.07590	N	0.154	0.16725	-1.0014	0.29516	T	0.020	0.08266	T	10	0.095469385	0.17053	T	0.002859	0.06015	T	0.036	0.09122	0.398	0.42590	0.236278675362	0.23226	0.8510158740642203	0.85063	0.917897762411	0.71318	0.697021842003	0.66714	T	0.162616	0.50735	T	-0.435548	0.01374	T	-0.626742	0.10663	T	0.0165644796656419	0.00418	T	0.734227	0.35027	T	0.021495776	0.00756	0.027372578	0.00886	0.021495776	0.00755	0.027372578	0.00885	-3.122	0.11551	T	.	.	0.074	0.10931	B	.;.;.;.;.	.;.;.;.;.	1.580883	0.20228	14.65	0.39398626038232476	0.02716	0.92993	0.57055	D	AEFDGBI	0.427296	0.49130	N	-0.697769689232345	0.16084	0.8164225	-0.472218592968051	0.22923	1.247482	0.00435406639518044	0.10513	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.85	2.2	0.26966	3.810000	0.55318	0.956000	0.22957	-0.147000	0.12262	1.000000	0.71638	0.780000	0.26771	0.963000	0.52385	0.0:0.1449:0.2816:0.5735	5.394	0.15560	899	0.25060	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2527.98	37	chr8	139618956	.	T	C	2527.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.135e+00;DP=989;ExcessHet=0.0000;FS=3.052;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=-4.210e-01;SOR=0.910	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr8	139910284	139910284	C	G	exonic	TRAPPC9	.	nonsynonymous SNV	TRAPPC9:NM_001321646:exon19:c.G2800C:p.D934H	Mental retardation, autosomal recessive 13, Autosomal recessive	.	0	225	1	0	0	1	0.00221729	.	.	313276	not_provided|Intellectual_Disability,_Recessive|Inborn_genetic_diseases	MedGen:C3661900|MedGen:CN239290|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.997	D	0.000	D	1.000	D	1.845	L	.	.	-0.513	T	0.350	T	0.849	4.401	23.3	5.62	2.659	5.123	18.649	0.180	0.016237788969	7.7e-05	0.000599042	0.0002	0	0	0.0017	0	0.0002	0	0.0002	0.0002005	31	154602	rs144046998	9.44e-05	9.44e-05	0.0001	8.25e-05	0.0014	8.134e-05	7.65e-05	0.0011	0.0010	0	0	0.0007	0.0014	0	0.0002	2.158e-05	0.0002	0.0003	0.0001	0.0001	8.993e-05	0.0001	0.0019	6.507e-05	5.319e-05	0.0010	0.0008	0	0	0	0.0009	0.0019	0	0	1.47e-05	0	0.0004	0.001	0.78490	D	0.022	0.58089	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.051064	0.999999	0.58761	D	2.25	0.63811	M	.	.	.	-3.68	0.70314	D	0.881	0.88027	-0.5130	0.68176	T	0.350	0.71407	T	9	0.12806788	0.24360	T	0.016238	0.37399	T	0.427	0.73445	.	.	0.478144874143	0.47444	0.3884458762403192	0.38759	0.452047251807	0.44938	0.740373373032	0.73028	T	0.299927	0.67243	T	0.0427237	0.57401	T	0.253215	0.85770	D	0.146305330273442	0.16805	T	0.90041	0.65400	D	0.7603334	0.81473	0.71539515	0.83203	0.7603334	0.81474	0.71539515	0.83204	-7.553	0.58604	D	.	.	0.297	0.52784	B	.;.;.;.	.;.;.;.	5.077105	0.84710	28.4	0.99696640447176721	0.80316	0.97763	0.76955	D	AEFDGI	0.779949	0.71199	D	0.445780825537574	0.63963	4.640723	0.525780389728075	0.69730	5.402327	0.999999999917913	0.74766	0.706298	0.61202	0	0.659464	0.62310	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.62	5.62	0.85714	5.442000	0.66324	7.544000	0.60141	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.649	0.91381	963	0.08280	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1181.98	33	chr8	139910284	.	C	G	1181.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.545;DP=808;ExcessHet=0.0000;FS=3.676;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=2.36;SOR=0.385	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1015	20	0	1	0
chr8	139988739	139988739	C	T	exonic	TRAPPC9	.	nonsynonymous SNV	TRAPPC9:NM_001321646:exon18:c.G2770A:p.G924S	Mental retardation, autosomal recessive 13, Autosomal recessive	.	4	1463	53	2	0	57	0.0191083	.	.	136075	not_specified|Inborn_genetic_diseases|Intellectual_Disability,_Recessive|not_provided	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:CN239290|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.44	T	0.436	B	0.049	B	0.000	N	0.751	N	0.69	N	.	.	-1.052	T	0.021	T	0.252	2.273	13.56	3.29	0.446	1.679	9.085	0.042	.	0.0053	0.0129792	0.0146	0.0221	0.0076	0	0	0.0010	0.0052	0.0281	0.0026455	409	154602	rs114949291	0.0027	0.0026	0.0020	0.0035	0.0256	0.0027	0.0026	0.0247	0.0243	0.0237	0.0017	0.0035	2.798e-05	4.101e-05	0.0128	0.0005	0.0042	0.0256	0.0068	0.0068	0.0067	0.0068	0.0245	0.0064	0.0063	0.0209	0.0196	0.0185	0	0.0040	0.0035	0	0	0.0068	0.0007	0.0071	0.0245	0.209	0.19710	T	0.596	0.09588	T	0.005	0.35766	B	0.006	0.24832	B	0.000012	0.62929	N	0.114026	0.751216	0.29636	N	0.4	0.12274	N	.	.	.	-0.01	0.08033	N	0.295	0.33578	-1.0517	0.13926	T	0.021	0.08870	T	9	0.004834801	0.00103	T	.	.	.	0.042	0.11227	.	.	0.362758974969	0.35886	0.12049268189326275	0.11976	0.0848231563066	0.09583	0.331068098545	0.15096	T	0.025992	0.19327	T	-0.469245	0.00859	T	-0.42789	0.30176	T	0.0152808649358406	0.00338	T	0.811819	0.46320	T	0.03616323	0.04396	0.068118654	0.14183	0.038391553	0.05105	0.068118654	0.14182	-5.282	0.39764	T	.	.	0.091	0.13783	B	.;.;.;.	.;.;.;.	1.011054	0.13902	10.46	0.98729725598533269	0.45333	0.70043	0.34429	D	AEFDGBI	0.166247	0.29281	N	-0.0499159299800223	0.39605	2.33835	0.0126682155892763	0.40303	2.403049	0.999779627183075	0.42865	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.48	3.29	0.36801	1.772000	0.38182	-0.374000	0.09587	0.599000	0.40250	0.924000	0.32081	0.000000	0.08366	0.521000	0.29498	0.0:0.7858:0.0:0.2142	9.085	0.35738	971	0.05719	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.04762	5621.11	183	chr8	139988739	.	C	T	5621.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.29;DP=1279;ExcessHet=0.1072;FS=1.241;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.53;ReadPosRankSum=0.518;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1530	19	0	2	0
chr8	140283926	140283926	C	T	exonic	TRAPPC9	.	nonsynonymous SNV	TRAPPC9:NM_001321646:exon13:c.G2050A:p.A684T	Mental retardation, autosomal recessive 13, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	308181	not_provided|Inborn_genetic_diseases|Intellectual_Disability,_Recessive|Intellectual_disability	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN239290|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.53	T	0.984	D	0.692	P	0.000	D	0.999	D	1.735	L	.	.	-0.537	T	0.343	T	0.354	2.970	15.90	5.55	2.601	4.149	19.503	0.112	0.0231400143245	0.0002	.	0.0004	0	0.0003	0.0008	0	0.0005	0.0033	0	0.0003363	52	154602	rs147044768	0.0002	0.0002	0.0003	0.0002	0.0009	0.0002	0.0002	0.0003	0.0002	5.974e-05	0.0001	0.0005	0.0002	5.616e-05	0.0009	0.0003	0.0002	4.637e-05	0.0001	0.0001	0.0001	0.0001	0.0006	9.153e-05	7.708e-05	0.0002	0.0001	2.415e-05	0	6.545e-05	0	0.0006	0	0	0.0002	0.0005	0	0.006	0.63226	D	0.012	0.63918	D	0.59	0.59353	P	0.266	0.50368	B	0.000099	0.51296	D	0.174005	0.999106	0.46078	D	1.935	0.51832	L	.	.	.	-2.18	0.49187	N	0.569	0.63120	-0.5375	0.67258	T	0.343	0.70843	T	9	0.14443013	0.27409	T	0.02314	0.46083	T	0.112	0.31546	.	.	0.238705975628	0.23479	0.4082836159971277	0.40744	0.410003930017	0.41799	0.583521842957	0.50582	T	0.18026	0.53154	T	-0.28783	0.09854	T	-0.260338	0.48791	T	0.368584334850311	0.27743	T	0.941706	0.78221	D	0.1426951	0.32826	0.18335241	0.41319	0.1426951	0.32826	0.18335241	0.41318	-9.04	0.69134	D	.	.	0.122	0.25946	B	.;.;.;.	.;.;.;.	3.452650	0.48089	22.6	0.99369111406507948	0.61368	0.93585	0.58620	D	AEFGI	0.389457	0.46867	N	0.182596063836786	0.50364	3.227078	0.188699788417172	0.49226	3.12846	0.999438851364219	0.39683	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.55	5.55	0.83298	4.318000	0.58981	5.929000	0.51288	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.020000	0.11549	0.0:1.0:0.0:0.0	19.503	0.95094	988	0.01987	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2437.98	38	chr8	140283926	.	C	T	2437.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.051e+00;DP=932;ExcessHet=0.0000;FS=5.327;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=-7.150e-01;SOR=0.419	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr8	140450985	140450985	G	A	exonic	TRAPPC9	.	nonsynonymous SNV	TRAPPC9:NM_001160372:exon2:c.C389T:p.T130I	Mental retardation, autosomal recessive 13, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.01	B	0.028	B	0.000	D	0.663	N	1.24	L	.	.	-0.896	T	0.131	T	0.145	1.242	10.04	5.48	2.572	7.843	12.671	0.133	0.00923046875341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.34982	T	0.172	0.33780	T	0.003	0.15093	B	0.014	0.17295	B	0.000067	0.52346	D	0.198508	0.662624	0.30435	N	1.195	0.30194	L	.	.	.	-2.78	0.61580	D	0.258	0.29544	-0.8961	0.48380	T	0.131	0.44088	T	9	0.25209612	0.42559	T	0.00923	0.24249	T	0.133	0.36157	0.383	0.40134	0.245101548738	0.24120	0.4503675943542394	0.44954	1.4675499815	0.86473	0.519958972931	0.41621	T	0.209965	0.57032	T	-0.106854	0.35290	T	-0.391265	0.34403	T	0.913737297058105	0.57011	D	0.858914	0.54988	D	0.12732348	0.29797	0.11748496	0.28361	0.12732348	0.29796	0.11748496	0.28360	-7.062	0.56196	T	.	.	0.281	0.55060	B	.;.;.;.	.;.;.;.	3.301483	0.45322	22.1	0.95319880758649889	0.26663	0.98437	0.82768	D	AEFBI	0.812645	0.73532	D	-0.0408768240303707	0.40012	2.368932	0.0924269019205283	0.44168	2.703723	0.99999999105208	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	8.053000	0.89235	11.681000	0.94222	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.050000	0.15192	0.0754:0.0:0.9246:0.0	12.671	0.56230	987	0.02648	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2685.98	33	chr8	140450985	.	G	A	2685.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.09;DP=2510;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.44;ReadPosRankSum=-1.409e+00;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:150,0:150:99:.:.:0,120,1800	20	0	1	0
chr8	141168331	141168331	C	T	exonic	DENND3	.	nonsynonymous SNV	DENND3:NM_001352890:exon13:c.C2081T:p.A694V	.	.	429	1090	3	0	0	3	0.00137426	.	.	758717	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.2	T	0.009	B	0.004	B	0.061	N	1.000	N	-0.69	N	2.95	T	-0.990	T	0.010	T	0.199	0.611	7.293	-0.223	0.018	0.058	1.032	0.028	.	.	0.00499201	0.0029	9.617e-05	8.64e-05	0.0005	0	0	0.0011	0.0205	0.0024321	376	154602	rs201427766	0.0012	0.0012	0.0007	0.0017	0.0193	0.0012	0.0011	0.0185	0.0182	2.987e-05	4.472e-05	0	0.0001	0	0.0009	9.892e-06	0.0012	0.0193	0.0007	0.0007	0.0004	0.0011	0.0224	0.0006	0.0006	0.0190	0.0177	4.816e-05	0	0	0	0.0004	0	0	0	0	0.0224	0.261	0.17126	T	0.206	0.27679	T	0.005	0.15093	B	0.002	0.10090	B	0.060700	0.22229	N	0.494473	1	0.08975	N	-0.69	0.01958	N	2.95	0.14038	T	-0.99	0.28906	N	0.031	0.03175	-0.9895	0.32727	T	0.010	0.03627	T	10	0.0021252036	0.00031	T	.	.	.	0.028	0.06331	0.213	0.13210	0.0482279557977	0.04254	0.08657554666944364	0.08591	0.418471938286	0.42436	0.233252421021	0.02217	T	0.011979	0.10603	T	-0.643163	0.00080	T	-0.680379	0.06961	T	0.0165594952280453	0.00418	T	0.70513	0.31558	T	0.015344161	0.00134	0.02437874	0.00457	0.018180596	0.00339	0.029553236	0.01307	-4.241	0.27683	T	.	.	0.084	0.11269	B	.;.;.	.;.;.	0.464383	0.08339	5.091	0.97907824476310479	0.36787	0.14630	0.18504	N	AEFBHCI	0.066553	0.13039	N	-1.14070705466686	0.05934	0.2718678	-1.0988372922775	0.07723	0.3768197	0.999996373497582	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.616094	0.41390	0	0.714379	0.83352	0	.	.	5.55	-0.223	0.12472	0.070000	0.14440	-2.126000	0.04174	-0.777000	0.03376	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2139:0.3181:0.1022:0.3658	1.032	0.01443	969	0.06854	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	2308.98	38	chr8	141168331	.	C	T	2308.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.420e-01;DP=862;ExcessHet=0.0000;FS=1.211;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=0.561;SOR=0.598	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr8	141357221	141357221	G	T	exonic	GPR20	.	nonsynonymous SNV	GPR20:NM_005293:exon2:c.C703A:p.R235S,	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	1.0	D	0.992	D	0.000	U	0.993	D	1.615	L	1.1	T	-0.866	T	0.187	T	0.592	3.180	16.64	4.77	2.197	2.791	10.839	0.232	0.0955592819397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.419e-06	7.525e-06	2.811e-06	0	9.186e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.186e-07	1.705e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.041	0.50514	D	1.0	0.90584	D	0.992	0.80445	D	0.000001	0.84330	U	0.000000	0.993044	0.41819	D	1.93	0.51437	L	1.1	0.39050	T	-2.34	0.51811	N	0.61	0.62696	-0.8657	0.50849	T	0.187	0.53707	T	10	0.5465805	0.64018	D	0.095559	0.76450	D	0.232	0.53354	0.553	0.66995	0.663207481787	0.66037	0.7177758275544793	0.71720	1.03166776097	0.75447	0.723103165627	0.70499	T	0.185847	0.53895	T	-0.0515845	0.44205	T	-0.311874	0.43458	T	0.947394073009491	0.62672	D	0.815518	0.47040	T	0.6156432	0.73530	0.6270365	0.78255	0.6156432	0.73531	0.6270365	0.78256	-4.668	0.33015	T	.	.	0.551	0.66828	A	.	.	4.699258	0.75381	26.3	0.99708297904916654	0.81143	0.57449	0.30379	D	AEFDGBCI	0.508251	0.53821	D	0.480985308999743	0.65980	4.891318	0.455371883063499	0.65062	4.776524	0.999461091317399	0.39843	0.62174	0.39705	0	0.547309	0.14657	0	0.491614	0.08109	1	0.613276	0.41899	0	.	.	4.77	4.77	0.60425	2.097000	0.41373	6.481000	0.55737	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.6944:0.3056	10.839	0.45909	934	0.15400	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2032.98	34	chr8	141357221	.	G	T	2032.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.45;DP=1233;ExcessHet=0.0000;FS=2.953;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.02;ReadPosRankSum=1.56;SOR=0.963	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1383	20	0	1	0
chr8	141434568	141434568	G	C	exonic	MROH5	.	unknown	UNKNOWN,	.	.	405	1116	1	0	0	1	0.000447828	.	.	2308378	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0	0	0	0	0	0	0	0	.	.	.	rs201864929	1.548e-05	1.71e-05	1.393e-05	1.707e-05	0.0002	1.014e-05	8.66e-06	1.196e-05	9.72e-06	0	0	0	0	0	0.0002	1.831e-05	1.696e-05	0	1.971e-05	1.97e-05	1.285e-05	2.69e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.11912	.	.	.	.	.	.	.	0.05662766	0.06377	T	.	.	.	.	.	.	.	0.0762999501168	0.06990	.	.	.	.	0.330058038235	0.14942	T	.	.	.	-0.277362	0.10950	T	-0.636188	0.09949	T	.	.	.	0.262774	0.04248	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.25331	B	.	.	-0.080539	0.03758	0.783	0.59072100652836756	0.06138	0.07935	0.13921	N	AEFDGBCI	0.030032	0.02944	N	.	.	.	.	.	.	0.999999995883454	0.74766	0.608966	0.35542	0	0.550933	0.16991	0	0.769059	0.98459	0	0.613276	0.41899	0	.	.	2.97	-5.93	0.02067	-0.206000	0.09400	-0.902000	0.06987	-0.112000	0.15009	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.3708:0.3666:0.2625:0.0	5.921	0.18319	868	0.31772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	615.98	33	chr8	141434568	.	G	C	615.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.82;DP=761;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.44;ReadPosRankSum=-7.540e-01;SOR=0.765	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1226	20	0	1	0
chr8	141436824	141436824	G	A	exonic	MROH5	.	unknown	UNKNOWN,	.	.	412	1106	3	1	0	5	0.0022553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0069	0.00439297	0.0059	0.0077	0.0017	0.0001	0.0078	0.0084	0.0043	0.0005	0.0050064	774	154602	rs115712352	0.0058	0.0058	0.0060	0.0057	0.0072	0.0057	0.0057	0.0066	0.0066	0.0072	0.0013	0.0005	2.53e-05	0.0072	0.0015	0.0067	0.0048	0.0003	0.0062	0.0062	0.0067	0.0056	0.0075	0.0058	0.0057	0.0068	0.0065	0.0075	0	0.0054	0.0003	0	0.0057	0	0.0069	0.0061	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	939.98	40	chr8	141436824	.	G	A	939.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.140e-01;DP=924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.22;ReadPosRankSum=1.56;SOR=0.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,102,1530	20	0	1	0
chr8	141467518	141467518	A	C	exonic	MROH5	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0002	0	0	0	0	0	0	0.0016	0.0001552	24	154602	rs550529090	7.185e-05	7.935e-05	3.463e-05	0.0001	0.0012	6.03e-05	5.631e-05	0.0010	0.0010	0	0	0	0	0	0	0	1.701e-05	0.0012	5.262e-05	5.25e-05	3.86e-05	6.727e-05	0.0017	2.559e-05	1.832e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.391	0.43223	.	.	.	.	.	.	.	0.0108855665	0.00240	T	.	.	.	.	.	.	.	0.0551355673512	0.04727	.	.	.	.	0.426670432091	0.28753	T	.	.	.	-0.500696	0.00567	T	-0.511006	0.21212	T	.	.	.	0.525947	0.17303	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.19879	B	.	.	2.048561	0.26042	16.98	0.25576820890446667	0.01186	0.19662	0.20747	N	AEFDGBHI	0.052877	0.09479	N	.	.	.	.	.	.	0.0835053814759024	0.15930	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.4	1.3	0.20778	0.103000	0.15128	3.046000	0.36101	-0.679000	0.04243	0.807000	0.29812	1.000000	0.68203	0.008000	0.08271	0.1386:0.0:0.643:0.2184	4.396	0.10794	878	0.29785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	854.98	36	chr8	141467518	.	A	C	854.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.309e+00;DP=826;ExcessHet=0.0000;FS=0.864;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.96;ReadPosRankSum=0.530;SOR=0.911	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1575	20	0	1	0
chr8	142464674	142464674	G	C	exonic	ADGRB1	.	nonsynonymous SNV	ADGRB1:NM_001702:exon2:c.G476C:p.R159P,	.	.	415	1088	19	0	0	19	0.00865604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.0	B	0.001	B	0.775	U	1.000	N	1.01	L	1.57	T	-0.988	T	0.038	T	0.149	0.392	6.131	-9.26	-1.854	-3.532	1.314	0.028	.	.	0.0131789	0.0033	0	0	0.0724	0	0.0035	0	0.0020	0.0013001	201	154602	rs113034224	0.0041	0.0039	0.0041	0.0042	0.0486	0.0040	0.0040	0.0467	0.0459	0.0004	0.0011	8.169e-05	0.0486	0.0014	0.0073	0.0030	0.0067	0.0026	0.0037	0.0037	0.0034	0.0040	0.0528	0.0034	0.0033	0.0477	0.0456	0.0007	0	0.0018	0.0003	0.0528	0.0006	0.0068	0.0028	0.0047	0.0054	0.145	0.25154	T	0.021	0.58089	D	.	.	.	.	.	.	0.775152	0.06621	U	1.180340	1	0.08975	N	.	.	.	1.57	0.29342	T	-2.03	0.46673	N	0.088	0.07535	-0.9883	0.33027	T	0.038	0.16333	T	10	0.0026381314	0.00041	T	.	.	.	0.028	0.06331	.	.	0.0675242888579	0.06100	0.33444488533176336	0.33357	1.64572086695	0.89461	0.574541509151	0.49318	T	0.136024	0.46817	T	-0.678403	0.00049	T	-0.710011	0.05295	T	0.0228219247256037	0.01003	T	0.475952	0.14261	T	0.2545983	0.48489	0.19434386	0.43053	0.2545983	0.48489	0.19434386	0.43052	-1.347	0.01479	T	.	.	0.062	0.01810	B	.;.;.	.;.;.	-0.836702	0.01037	0.044	0.80002862075749293	0.13000	0.02194	0.06410	N	AEFDBHCI	0.104562	0.20918	N	-1.60828168910177	0.01223	0.05320969	-1.75686229923967	0.00908	0.04059652	0.999999503322877	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	4.63	-9.26	0.00563	-4.991000	0.00190	-4.788000	0.01986	-0.828000	0.02899	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2956:0.2604:0.2825:0.1615	1.314	0.01976	964	0.07719	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1526.98	33	chr8	142464674	.	G	C	1526.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.173;DP=861;ExcessHet=0.0000;FS=0.617;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=1.37;SOR=0.763	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1065	20	0	1	0
chr8	142664963	142664963	C	T	exonic	JRK	.	nonsynonymous SNV	JRK:NM_001077527:exon2:c.G1096A:p.V366M	.	.	.	.	.	.	.	.	.	.	.	2270006	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.9e-05	.	3.421e-05	0.0004	0	0	0	0	0	0	1.29e-05	2	154602	rs375937258	2.818e-05	2.808e-05	2.876e-05	2.768e-05	5.886e-05	1.716e-05	1.402e-05	1.226e-05	8.21e-06	5.886e-05	5.351e-05	0	0	0	0	2.321e-05	9.378e-05	4.62e-05	0.0001	0.0001	0.0001	8.074e-05	0.0003	7.094e-05	5.75e-05	0.0002	0.0002	0.0003	0	6.541e-05	0	0	0	0	2.941e-05	0	0	.	.	.	0.017	0.60337	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87	0.46412	T	.	.	.	0.239	0.32148	.	.	.	.	.	.	.	0.12650168	0.24050	T	.	.	.	.	.	.	.	0.389904358541	0.38601	0.2975184485728843	0.29664	.	.	0.464331150055	0.33903	T	.	.	.	-0.295088	0.09131	T	-0.371507	0.36713	T	.	.	.	0.686731	0.29555	T	0.028707623	0.02250	0.17093888	0.39240	0.028707623	0.02249	0.17093888	0.39239	-5.266	0.39606	T	.	.	0.342	0.57603	A	.;.;.;.	.;.;.;.	3.308983	0.45458	22.1	0.79381568898499844	0.12716	0.35218	0.25250	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999978341194096	0.50053	0.256867	0.04430	0	0.158463	0.03841	0	0.320204	0.05785	0	0.221052	0.04502	0	0.129805	0.25693	3.67	2.78	0.31702	0.932000	0.28484	4.167000	0.42248	-0.172000	0.11096	0.715000	0.28771	0.999000	0.35428	0.039000	0.14166	0.0:0.8889:0.0:0.1111	10.170	0.42082	982	0.03397	.;.;DDE superfamily endonuclease domain;DDE superfamily endonuclease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1400.98	40	chr8	142664963	.	C	T	1400.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.82;DP=1227;ExcessHet=0.0000;FS=1.588;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=0.325;SOR=0.494	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,120,1800	20	0	1	0
chr8	142913390	142913390	A	T	exonic	CYP11B2	.	nonsynonymous SNV	CYP11B2:NM_000498:exon6:c.T1016A:p.I339N,	Aldosterone to renin ratio raised (3);Hypoaldosteronism, congenital, due to CMO I deficiency, Autosomal recessive;Hypoaldosteronism, congenital, due to CMO II deficiency, Autosomal recessive	YES	0	1408	68	3	43	117	0.0256055	.	.	313457	not_provided|Glucocorticoid-remediable_aldosteronism|Corticosterone_methyloxidase_type_2_deficiency|Corticosterone_18-monooxygenase_deficiency	MedGen:C3661900|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900,Orphanet:403|MONDO:MONDO:0012524,MedGen:C3463917,OMIM:610600,Orphanet:427|MONDO:MONDO:0008751,MedGen:C0268293,OMIM:203400,Orphanet:427	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.36	T	0.0	B	0.0	B	0.003	N	0.000	P	0.125	N	-0.28	T	-0.986	T	0.112	T	0.154	0.682	7.646	3.74	0.794	1.015	4.697	0.055	.	.	0.00539137	0.0035	0	0.0012	0.0006	0.0002	0.0006	0.0022	0.0219	0.0029754	460	154602	rs4544	0.0016	0.0016	0.0010	0.0022	0.0206	0.0016	0.0015	0.0198	0.0194	0.0002	0.0008	0.0007	0.0004	1.879e-05	0.0078	0.0003	0.0018	0.0206	0.0010	0.0010	0.0006	0.0015	0.0199	0.0009	0.0008	0.0167	0.0155	7.236e-05	0	0.0007	0.0006	0.0002	0	0.0102	0.0005	0.0009	0.0199	0.074	0.34621	T	0.386	0.15698	T	0.0	0.02946	B	0.0	0.01387	B	0.003267	0.35183	N	0.129102	0.999554	0.20991	P	-0.345	0.03330	N	-0.28	0.67543	T	-0.08	0.08187	N	0.17	0.18103	-0.9861	0.33566	T	0.112	0.40168	T	9	0.020480663	0.00473	T	.	.	.	0.055	0.15663	.	.	0.392239652056	0.38839	0.7807455489331263	0.78025	0.399629525526	0.40983	0.660252928734	0.61446	T	0.087593	0.37975	T	-0.512246	0.00488	T	-0.492326	0.23148	T	0.0066171016284321	0.00074	T	0.328667	0.06851	T	0.20084515	0.42074	0.13601667	0.32550	0.39012992	0.60042	0.16626196	0.38418	-3.864	0.21764	T	.	.	0.081	0.08033	B	.	.	3.043909	0.40817	21.2	0.93745159411013268	0.23683	0.03483	0.08646	N	AEFDGBI	0.034672	0.04335	N	-0.96610948516903	0.09335	0.4413613	-0.876511995914212	0.12651	0.6520281	0.00385800859355537	0.10307	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.74	3.74	0.42108	0.599000	0.23788	8.999000	0.78526	-0.103000	0.15852	0.000000	0.06391	1.000000	0.68203	0.192000	0.21661	0.1139:0.0:0.6733:0.2128	4.697	0.12192	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	5397.11	41	chr8	142913390	.	A	T	5397.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.419;DP=1441;ExcessHet=0.1072;FS=1.107;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.64;MQRankSum=-1.860e-01;QD=12.97;ReadPosRankSum=-3.700e-02;SOR=0.573	GT:AD:DP:GQ:PL	0/0:63,0:63:99:0,120,1800	19	0	2	0
chr8	142917752	142917752	C	T	exonic	CYP11B2	.	nonsynonymous SNV	CYP11B2:NM_000498:exon1:c.G89A:p.R30Q,	Aldosterone to renin ratio raised (3);Hypoaldosteronism, congenital, due to CMO I deficiency, Autosomal recessive;Hypoaldosteronism, congenital, due to CMO II deficiency, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	313479	Corticosterone_methyl_oxidase_type_II_deficiency|Glucocorticoid-remediable_aldosteronism|not_provided|Corticosterone_18-monooxygenase_deficiency|Corticosterone_methyloxidase_type_2_deficiency	.|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900,Orphanet:403|MedGen:C3661900|MONDO:MONDO:0008751,MedGen:C0268293,OMIM:203400,Orphanet:427|MONDO:MONDO:0012524,MedGen:C3463917,OMIM:610600,Orphanet:427	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.59	T	0.0	B	0.001	B	0.081	U	1.000	N	-0.69	N	-0.82	T	-1.000	T	0.086	T	0.045	-0.044	3.787	-1.82	-0.095	-0.674	0.354	0.113	.	0.0032	0.00199681	0.0011	0.0109	0.0007	0	0	0.0002	0.0011	6.056e-05	0.0009961	154	154602	rs6441	0.0005	0.0005	0.0005	0.0004	0.0127	0.0005	0.0004	0.0117	0.0113	0.0127	0.0010	0	5.038e-05	0	0.0017	0.0001	0.0013	9.275e-05	0.0037	0.0037	0.0037	0.0038	0.0127	0.0035	0.0034	0.0118	0.0114	0.0127	0	0.0014	0	0.0002	0	0.0068	0.0001	0.0043	0	0.593	0.05755	T	0.621	0.07419	T	0.0	0.02946	B	0.001	0.04355	B	0.080754	0.02351	U	2.457000	1	0.08975	N	-0.69	0.01958	N	-0.82	0.74053	T	-0.17	0.09627	N	0.031	0.00770	-0.9998	0.29973	T	0.086	0.33522	T	10	0.006872624	0.00156	T	.	.	.	0.113	0.31778	.	.	0.441949972293	0.43817	0.3279911864277752	0.32712	0.261723685699	0.28725	0.411951065063	0.26727	T	0.088526	0.38178	T	-0.611105	0.00125	T	-0.640198	0.09655	T	0.00150298370214804	0.00015	T	0.349965	0.07784	T	0.030228583	0.02650	0.03148591	0.01744	0.030228583	0.02649	0.03148591	0.01744	-3.734	0.19821	T	.	.	0.074	0.05274	B	.	.	-0.691650	0.01340	0.074	0.68884413144555334	0.08797	0.00390	0.01961	N	AEFDBI	0.016559	0.00380	N	-1.6700705384338	0.00953	0.04129815	-1.66122479467032	0.01319	0.05951107	1.27112602497627E-4	0.05386	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.48	-1.82	0.07433	-0.288000	0.08412	0.588000	0.19789	-2.618000	0.00231	0.000000	0.06391	0.045000	0.21693	0.000000	0.00833	0.1936:0.2079:0.205:0.3935	0.354	0.00329	986	0.02773	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	2888.98	37	chr8	142917752	.	C	T	2888.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.261;DP=956;ExcessHet=0.0000;FS=1.068;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=1.31;SOR=0.672	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1282	20	0	1	0
chr8	143021703	143021703	G	A	exonic	LY6E	.	nonsynonymous SNV	LY6E:NM_001127213:exon4:c.G310A:p.D104N	.	.	423	1094	5	0	0	5	0.00227998	.	.	722898	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.691	N	1.000	N	0.69	N	-1.46	T	-0.898	T	0.243	T	0.051	-2.324	0.004	1.27	0.329	0.874	4.428	0.109	0.0750111966645	0.0021	0.000998403	0.0016	0.0046	0.0008	0.0006	0	0.0013	0.0022	0.0025	0.0014101	218	154602	rs111560737	0.0008	0.0008	0.0007	0.0009	0.0053	0.0007	0.0007	0.0047	0.0045	0.0053	0.0007	0.0071	0.0006	0	0.0043	0.0003	0.0022	0.0025	0.0018	0.0018	0.0015	0.0020	0.0042	0.0016	0.0015	0.0037	0.0035	0.0042	0	0.0007	0.0078	0.0004	0	0.0102	0.0006	0.0019	0.0021	1.0	0.00964	T	0.638	0.07015	T	0.001	0.07471	B	0.001	0.04355	B	0.690992	0.06146	N	1.192290	1	0.08975	N	0.69	0.16971	N	-1.46	0.80983	T	0.35	0.03761	N	0.094	0.28264	-0.8982	0.48175	T	0.243	0.61119	T	10	0.0045699775	0.00095	T	0.075011	0.72183	D	0.109	0.30843	.	.	0.619293459087	0.61621	0.22872486032246309	0.22787	0.401235928437	0.41108	0.41535025835	0.27195	T	0.101689	0.40869	T	-0.5459	0.00309	T	-0.556521	0.16706	T	0.000302103845567294	0.00002	T	0.658834	0.26791	T	0.019850181	0.00525	0.023477858	0.00361	0.019850181	0.00525	0.023477858	0.00361	-4.492	0.30784	T	.	.	0.109	0.21087	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.278330	0.06553	3.040	0.71013850869341977	0.09486	0.10811	0.16209	N	AEFBCI	0.117947	0.23083	N	-1.29271296942825	0.03762	0.1686411	-1.30782588454055	0.04328	0.2039091	0.999668402452916	0.41534	0.706548	0.73137	0	0.672317	0.65289	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.18	1.27	0.20595	0.136000	0.15794	3.781000	0.39791	-0.123000	0.13640	0.000000	0.06391	0.981000	0.30433	0.118000	0.19084	0.1322:0.2319:0.6359:0.0	4.428	0.10939	984	0.02857	Ly-6 antigen/uPA receptor-like;Ly-6 antigen/uPA receptor-like;Ly-6 antigen/uPA receptor-like;Ly-6 antigen/uPA receptor-like;Ly-6 antigen/uPA receptor-like;Ly-6 antigen/uPA receptor-like;Ly-6 antigen/uPA receptor-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1550.98	34	chr8	143021703	.	G	A	1550.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.925;DP=806;ExcessHet=0.0000;FS=3.030;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.33;ReadPosRankSum=-5.580e-01;SOR=1.054	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr8	143215486	143215486	G	C	exonic	GPIHBP1	.	nonsynonymous SNV	GPIHBP1:NM_178172:exon4:c.G523C:p.G175R,	Hyperlipoproteinemia, type 1D, Autosomal recessive	YES	402	1117	3	0	0	3	0.00134108	.	.	153747	Hyperlipoproteinemia,_type_1D|GPIHBP1-related_disorder|Cardiovascular_phenotype|not_provided	MONDO:MONDO:0014412,MedGen:C4014767,OMIM:615947,Orphanet:444490,Orphanet:535458|.|MedGen:CN230736|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.993	D	0.831	P	0.868	N	1.000	N	0.695	N	-1.8	D	-0.539	T	0.345	T	0.314	2.100	12.98	-4.12	-1.291	-0.429	5.997	0.721	0.0667380994633	0.0021	0.00219649	0.0011	0.0073	0.0021	0	0	0.0005	0.0044	0	0.0008473	131	154602	rs145844329	0.0006	0.0006	0.0006	0.0006	0.0053	0.0006	0.0006	0.0047	0.0044	0.0053	0.0017	0.0005	0	0.0001	0.0020	0.0005	0.0014	5.814e-05	0.0020	0.0020	0.0020	0.0020	0.0055	0.0018	0.0017	0.0049	0.0047	0.0055	0	0.0012	0.0012	0	9.411e-05	0.0102	0.0005	0.0043	0	.	.	.	0.015	0.61642	D	.	.	.	.	.	.	0.867515	0.08849	N	0.924044	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.184	0.19995	-0.5388	0.67208	T	0.345	0.71004	T	10	0.01230523	0.00265	T	0.066738	0.69964	D	.	.	.	.	0.488757021912	0.48508	0.783717957866859	0.78322	.	.	0.358868032694	0.19220	T	.	.	.	-0.502283	0.00555	T	-0.492214	0.23159	T	0.0388956787987601	0.03491	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.467	0.63033	A	.	.	0.652615	0.10212	6.949	0.93599898295013573	0.23457	0.03907	0.09289	N	AEFDBI	0.105086	0.21008	N	-0.713715911269836	0.15635	0.7897153	-0.971493214629424	0.10429	0.5251846	0.107372829030956	0.16554	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.19	-4.12	0.03650	-1.759000	0.01906	.	.	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.6117:0.1518:0.2366:0.0	5.997	0.18731	981	0.03995	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1049.98	46	chr8	143215486	.	G	C	1049.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=903;ExcessHet=0.0000;FS=1.843;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.29;ReadPosRankSum=0.491;SOR=0.569	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1291	20	0	1	0
chr8	143429787	143429789	TGG	-	exonic	MAFA	.	nonframeshift deletion	MAFA:NM_201589:exon1:c.618_620del:p.H208del,	.	.	264	254	1	13	990	1017	0.0504673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	51136.5	54	chr8	143429783	.	ATGGTGG	ATGG,A	51136.5	.	AC=38,4;AF=0.905,0.095;AN=42;BaseQRankSum=1.21;DP=1755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=38,4;MLEAF=0.905,0.095;MQ=60.00;MQRankSum=0.00;QD=34.47;ReadPosRankSum=0.693;SOR=0.738	GT:AD:DP:GQ:PL	1/1:0,44,0:44:99:1927,133,0,1927,133,1927	0	17	0	0
chr8	143538164	143538164	C	G	exonic	ZC3H3	.	nonsynonymous SNV	ZC3H3:NM_015117:exon2:c.G1203C:p.K401N,	.	.	393	1085	41	3	0	47	0.0211998	.	.	1671780	not_provided|Neutropenia|Lymphopenia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001875,Human_Phenotype_Ontology:HP:0005515,Human_Phenotype_Ontology:HP:0005533,MONDO:MONDO:0001475,MedGen:C0853697|Human_Phenotype_Ontology:HP:0001888,MONDO:MONDO:0003783,MedGen:C0024312	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.651	P	0.198	B	0.147	N	1.000	N	1.95	M	3.81	T	-1.026	T	0.012	T	0.054	1.730	11.75	2.58	1.005	0.539	9.487	0.070	.	0.0040	0.00239617	0.0044	0.0010	0.0035	0	0.0006	0.0063	0.0078	0.0028	0.0043984	680	154602	rs145312531	0.0050	0.0050	0.0050	0.0050	0.0161	0.0049	0.0049	0.0135	0.0125	0.0008	0.0032	0.0108	2.519e-05	0.0005	0.0161	0.0055	0.0049	0.0032	0.0042	0.0042	0.0045	0.0039	0.0061	0.0040	0.0039	0.0057	0.0055	0.0008	0.0912	0.0029	0.0110	0	0.0003	0.0102	0.0061	0.0080	0.0015	0.001	0.78490	D	0.215	0.26306	T	0.651	0.40707	P	0.198	0.36766	B	0.146865	0.18099	N	0.533225	1	0.08975	N	1.975	0.53506	M	3.81	0.03754	T	-1.55	0.37566	N	0.261	0.29544	-1.0261	0.21723	T	0.012	0.04510	T	10	0.0025629401	0.00039	T	.	.	.	0.070	0.20419	0.132	0.03662	0.043077524339	0.03247	0.19101010069573193	0.19019	.	.	0.350995391607	0.18068	T	0.029869	0.21306	T	-0.632085	0.00093	T	-0.676997	0.07168	T	0.0164832262250993	0.00413	T	0.735226	0.35154	T	0.13179666	0.30709	0.11634667	0.28087	0.13179666	0.30709	0.11634667	0.28087	-5.937	0.45749	T	.	.	0.379	0.58369	A	.	.	2.450788	0.31553	18.78	0.99737924929366029	0.83264	0.37660	0.25812	N	AEFGBCI	0.097974	0.19752	N	-0.183606738135059	0.33816	1.922929	-0.223506323144549	0.30694	1.730533	0.999950641709415	0.48110	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.76	2.58	0.30011	0.536000	0.22838	.	.	0.599000	0.40250	0.002000	0.15269	0.999000	0.35428	0.798000	0.37648	0.0:0.7414:0.0:0.2586	9.487	0.38102	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	611.98	40	chr8	143538164	.	C	G	611.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.430e-01;DP=869;ExcessHet=0.0000;FS=1.012;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.74;ReadPosRankSum=-6.390e-01;SOR=0.917	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,111,1603	20	0	1	0
chr8	143538782	143538782	C	A	exonic	ZC3H3	.	nonsynonymous SNV	ZC3H3:NM_015117:exon2:c.G585T:p.E195D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.996	D	0.867	P	0.000	D	0.982	N	1.995	M	2.16	T	-1.079	T	0.080	T	0.624	2.166	13.20	3.09	1.208	0.147	6.425	0.185	0.0245196302559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.533	0.10000	T	0.996	0.68779	D	0.867	0.61644	P	0.000024	0.55875	D	0.000000	0.982195	0.24982	N	2.125	0.59049	M	2.16	0.19166	T	-0.42	0.14193	N	0.249	0.28146	-1.0794	0.07465	T	0.080	0.31675	T	10	0.12095612	0.22921	T	0.02452	0.47508	T	0.185	0.45933	0.063	0.00257	0.043077524339	0.03247	0.10038454787476721	0.09969	.	.	0.484514206648	0.36678	T	0.010465	0.09450	T	-0.0920981	0.37731	T	-0.370069	0.36882	T	0.735010147094727	0.42471	D	0.738226	0.35599	T	0.08666655	0.20152	0.07217716	0.15541	0.08666655	0.20152	0.07217716	0.15541	-3.797	0.20760	T	.	.	0.127	0.27009	B	.	.	2.821127	0.37167	20.4	0.99826239691327057	0.90852	0.19743	0.20778	N	AEFDBCI	0.054555	0.09929	N	-0.124496228193287	0.36328	2.098365	-0.241286987509275	0.30073	1.690128	0.999972464006597	0.50053	0.736574	0.97449	0	0.697927	0.68747	0	0.732669	0.93749	0	0.635551	0.53088	0	.	.	5.23	3.09	0.34677	-0.042000	0.12016	.	.	-0.176000	0.10722	0.000000	0.06391	0.991000	0.31484	0.285000	0.24139	0.0:0.6032:0.2026:0.1942	6.425	0.20969	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2269.98	120	chr8	143538782	.	C	A	2269.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.762e+00;DP=1919;ExcessHet=0.0000;FS=0.565;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=-1.224e+00;SOR=0.786	GT:AD:DP:GQ:PL	0/0:100,0:100:99:0,120,1800	20	0	1	0
chr8	143567270	143567270	C	T	exonic	MROH6	.	nonsynonymous SNV	MROH6:NM_001100878:exon14:c.G2129A:p.R710H,	.	.	452	1064	6	0	0	6	0.00281162	.	.	2342916	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.01	B	0.005	B	.	.	1.000	N	0.69	N	3.9	T	-0.941	T	0.008	T	0.156	2.642	14.80	1.96	0.594	0.852	4.358	0.033	0.0493923179371	.	.	0	.	.	.	.	.	.	.	3.84e-05	1	26028	rs757730419	0.0002	0.0002	0.0002	0.0002	0.0056	0.0002	0.0002	0.0035	0.0029	0.0002	0.0007	0.0006	0	0	0.0056	0.0002	0.0005	0.0006	0.0003	0.0003	0.0003	0.0004	0.0015	0.0003	0.0002	0.0007	0.0005	2.411e-05	0	0.0009	0.0009	0	0	0.0069	0.0003	0.0014	0.0015	0.035	0.91255	D	0.0	0.92824	D	0.01	0.15535	B	0.005	0.11217	B	.	.	.	.	0.999764	0.20447	N	1.935	0.51832	L	3.9	0.03516	T	-1.01	0.81835	N	0.097	0.07811	-0.9411	0.42442	T	0.008	0.02968	T	9	0.018553495	0.00405	T	0.049392	0.63793	D	0.033	0.08068	.	.	0.0138822411134	0.00435	0.09507526324778336	0.09439	0.0211500251909	0.02094	0.631267845631	0.57325	T	0.005378	0.04831	T	-0.240024	0.15346	T	-0.582555	0.14317	T	0.441480308771133	0.30484	T	0.535646	0.17968	T	0.03580806	0.04285	0.04899516	0.07393	0.03580806	0.04285	0.04899516	0.07392	-5.24	0.39346	T	.	.	0.128	0.31532	B	.;.;.;.	.;.;.;.	2.965707	0.39511	21.0	0.99698225517642292	0.80453	0.22302	0.21700	N	AEFBHCI	0.231581	0.35478	N	-0.7970219194529	0.13387	0.6591392	-0.716040123969151	0.16561	0.8767052	0.999999976875098	0.74766	0.62174	0.39705	0	0.550933	0.16991	0	0.491614	0.08109	1	0.691587	0.68394	0	.	.	4.96	1.96	0.25203	0.154000	0.16160	.	.	-0.835000	0.02838	0.353000	0.25784	0.053000	0.21875	0.310000	0.24737	0.1567:0.5997:0.1526:0.0909	4.358	0.10624	952	0.10565	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	423.02	20	chr8	143567270	.	C	T	423.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.214e+00;DP=410;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0273;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.27;ReadPosRankSum=-2.600e-01;SOR=0.615	GT:AD:DP:GQ:PL	0/0:17,0:17:45:0,45,675	20	0	1	0
chr8	143569711	143569711	G	T	exonic	MROH6	.	nonsynonymous SNV	MROH6:NM_001100878:exon8:c.C1288A:p.L430M,	.	.	375	1143	4	0	0	4	0.00174672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.595	P	0.177	B	0.001	N	1.000	D	0.97	L	0.88	T	-1.105	T	0.074	T	0.169	2.004	12.66	3.92	0.962	1.387	11.755	0.021	.	0.0010	0.00199681	0.0052	0.0001	0.0015	0	0.0577	0.0031	0.0185	0.0002	0.004172	645	154602	rs187831058	0.0029	0.0029	0.0029	0.0029	0.0036	0.0028	0.0028	0.0024	0.0021	0.0001	0.0011	0.0042	0	0.0555	0.0036	0.0008	0.0025	0.0003	0.0055	0.0055	0.0030	0.0081	0.0018	0.0052	0.0051	0.0015	0.0014	0.0001	0	0.0012	0.0040	0	0.0626	0.0034	0.0018	0.0047	0.0004	0.25	0.17126	T	0.123	0.35582	T	0.595	0.39190	P	0.177	0.35687	B	0.001144	0.00745	N	11.323700	1	0.81001	D	1.61	0.41143	L	0.88	0.46028	T	-0.22	0.10480	N	0.338	0.37923	-1.1052	0.03517	T	0.074	0.29897	T	10	0.0033750534	0.00059	T	.	.	.	0.069	0.20116	.	.	0.112648838833	0.10856	0.14268485541226306	0.14191	0.142006430372	0.16011	0.711775958538	0.68850	T	0.003154	0.02556	T	-0.385236	0.02886	T	-0.326661	0.41839	T	0.022385635818221	0.00952	T	.	.	.	0.08276086	0.19080	0.10165588	0.24343	0.08276086	0.19080	0.10165588	0.24342	-7.409	0.56968	T	.	.	0.145	0.32005	B	.	.	3.103582	0.41837	21.4	0.98196463761777897	0.39079	0.50838	0.28756	D	AEFDGBHCI	0.226506	0.35044	N	-0.145606238447365	0.35421	2.034373	-0.0673499359484406	0.36749	2.142636	0.99999999999926	0.74766	0.443343	0.08805	1	0.609123	0.50646	0	0.666236	0.60216	0	0.618803	0.45993	0	.	.	4.83	3.92	0.44525	0.434000	0.21212	.	.	0.670000	0.69193	0.000000	0.06391	1.000000	0.68203	0.971000	0.54645	0.0:0.0:0.8156:0.1844	11.755	0.51138	952	0.10565	.	.	.	.	.	rs187831058	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	909.98	41	chr8	143569711	.	G	T	909.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=795;ExcessHet=0.0000;FS=1.976;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=1.49;SOR=1.009	GT:AD:DP:GQ:PL	0/1:36,35:71:99:924,0,840	20	0	1	0
chr8	143589187	143589187	G	C	exonic	EEF1D	.	nonsynonymous SNV	EEF1D:NM_001130053:exon3:c.C895G:p.P299A	.	.	415	1102	4	1	0	6	0.00271493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.03	B	0.034	B	0.463	N	1.000	N	0.695	N	.	.	-1.024	T	0.067	T	0.152	0.453	6.458	-1.61	-0.059	-0.580	7.092	0.020	.	7.7e-05	0.00379393	0.0036	0	0.0003	0	0	6.559e-05	0.0018	0.0245	0.0023156	358	154602	rs368294919	0.0012	0.0012	0.0006	0.0018	0.0195	0.0012	0.0011	0.0188	0.0184	3.015e-05	0.0001	0	2.546e-05	0	0.0007	2.268e-05	0.0009	0.0195	0.0007	0.0007	0.0004	0.0010	0.0199	0.0006	0.0005	0.0167	0.0155	9.62e-05	0	0.0003	0	0	0	0.0034	1.47e-05	0	0.0199	0.141	0.29029	T	0.295	0.27855	T	0.03	0.20002	B	0.034	0.22546	B	0.462954	0.04881	N	1.284940	1	0.08975	N	.	.	.	.	.	.	-0.95	0.69950	N	0.151	0.17691	-1.0240	0.22410	T	0.067	0.27572	T	9	0.0036596358	0.00067	T	.	.	.	0.020	0.03691	.	.	0.337135696972	0.33324	0.23165839362590593	0.23080	0.118362538721	0.13327	0.428507626057	0.29005	T	0.020141	0.15912	T	-0.561689	0.00248	T	-0.564009	0.16002	T	0.0226279557319155	0.00980	T	0.533147	0.36981	T	.	.	.	.	.	.	.	.	-2.938	0.09528	T	.	.	0.055	0.01126	B	.;.;.;.;.	.;.;.;.;.	-0.527607	0.01781	0.137	0.83349212240121429	0.14677	0.19665	0.20748	N	AEFDBCI	0.108222	0.21536	N	-1.03555229452827	0.07874	0.3672626	-1.05432078956186	0.08617	0.4245622	0.999623741488428	0.41093	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.03	-1.61	0.07951	-1.577000	0.02231	.	.	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.4424:0.1152:0.4424:0.0	7.092	0.24468	958	0.09170	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1732.98	67	chr8	143589187	.	G	C	1732.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.341e+00;DP=1713;ExcessHet=0.0000;FS=3.023;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=0.605;SOR=0.830	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,120,1800	20	0	1	0
chr8	143597931	143597931	C	T	exonic	TIGD5	.	nonsynonymous SNV	TIGD5:NM_032862:exon1:c.C28T:p.P10S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	.	.	.	.	.	.	0.996	N	0.55	N	0.95	T	-1.022	T	0.064	T	0.123	0.830	8.347	1.42	-0.021	1.880	6.082	0.026	0.16535122707	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs541013207	0.0020	0.0012	0.0019	0.0021	0.0048	0.0019	0.0019	0.0020	0.0020	0.0001	0.0048	0	0	0	0	0.0021	0.0014	6.645e-05	0.0011	0.0011	0.0013	0.0009	0.0020	0.0010	0.0009	0.0017	0.0016	0.0002	0	0.0014	0	0.0002	0	0	0.0020	0.0010	0	0.404	0.10345	T	0.02	0.58613	D	.	.	.	.	.	.	.	.	.	.	1	0.23013	N	0.805	0.20218	L	0.95	0.43279	T	-0.62	0.18248	N	0.107	0.09207	-1.0218	0.23129	T	0.064	0.26456	T	7	0.041391462	0.02790	T	0.165351	0.84423	D	0.026	0.05648	0.225	0.14960	0.288352970974	0.28455	0.2639304410727382	0.26306	0.826422662442	0.67426	0.81447404623	0.84179	D	0.013925	0.11951	T	-0.23261	0.16306	T	-0.571905	0.15275	T	0.0646710820705895	0.07882	T	0.281572	0.04927	T	0.020422366	0.00601	0.05331631	0.08958	0.020422366	0.00600	0.05331631	0.08957	-4.656	0.32867	T	.	.	0.082	0.08899	B	.	.	0.560313	0.09286	6.070	0.95209500934471869	0.26414	0.01350	0.04632	N	AEFGBHCI	0.085916	0.17417	N	-0.702941177343741	0.15938	0.8077343	-0.801501982837548	0.14459	0.7555935	0.999999969989811	0.74766	0.407012	0.06308	2	0.166054	0.03914	2	0.166054	0.03999	2	0.56214	0.19341	0	.	.	4.4	1.42	0.21524	1.074000	0.30315	.	.	0.393000	0.20503	0.001000	0.13787	0.000000	0.08366	0.011000	0.09372	0.0:0.6721:0.1632:0.1646	6.082	0.19171	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.03125	179.47	1	chr8	143597931	.	C	T	179.47	.	AC=1;AF=0.031;AN=32;BaseQRankSum=1.18;DP=78;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.0058;MLEAC=2;MLEAF=0.063;MQ=60.00;MQRankSum=0.00;QD=17.95;ReadPosRankSum=0.00;SOR=1.179	GT:AD:DP:GQ:PL	0/0:6,0:6:6:0,6,90	15	0	1	5
chr8	143693902	143693902	G	T	exonic	ZNF707	.	nonsynonymous SNV	ZNF707:NM_001288808:exon4:c.G380T:p.R127L	.	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	.	.	1.000	N	0.49	N	3.5	T	-0.985	T	0.021	T	0.382	-1.362	0.027	-3.87	-1.296	-0.370	1.073	0.057	0.00265009182441	.	0.000199681	0.0008	0	0	0	0	0	0	0.0052	0.0005627	87	154602	.	0.0004	0.0004	0.0002	0.0005	0.0057	0.0003	0.0003	0.0053	0.0051	6.004e-05	0	0	2.53e-05	0	0	3.614e-06	0.0004	0.0057	0.0002	0.0002	0.0001	0.0003	0.0064	0.0001	0.0001	0.0046	0.0040	0	0	0	0	0	0	0	0	0	0.0064	1.0	0.00964	T	0.679	0.06128	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.295	0.00719	N	3.5	0.19588	T	3.12	0.00186	N	0.085	0.06190	-0.9846	0.33927	T	0.021	0.08963	T	8	0.0042155385	0.00084	T	0.00265	0.05406	T	0.057	0.16321	0.457	0.52265	0.0551355673512	0.04727	0.13791814954313353	0.13715	0.281793151328	0.30648	0.337628334761	0.16083	T	0.004667	0.04082	T	-0.548843	0.00296	T	-0.559233	0.16448	T	0.0165222542936939	0.00415	T	.	.	.	0.054127328	0.10343	0.05798384	0.10636	0.054127328	0.10343	0.05798384	0.10635	-2.589	0.06420	T	.	.	0.116	0.32275	B	.;.;.;.;.	.;.;.;.;.	-0.250374	0.02843	0.398	0.75353343464222455	0.11042	0.00233	0.01302	N	AEFDBI	0.044081	0.07050	N	-1.6948730732895	0.00860	0.03721321	-1.79964727606577	0.00760	0.03389893	0.978711146501501	0.29951	0.718356	0.82227	0	0.577304	0.33150	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	1.93	-3.87	0.03939	-0.183000	0.09707	.	.	-0.972000	0.01937	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1894:0.1519:0.4019:0.2568	1.073	0.01525	917	0.20147	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1177.98	93	chr8	143693902	.	G	T	1177.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.081;DP=2027;ExcessHet=0.0000;FS=1.647;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=1.66;SOR=0.892	GT:AD:DP:GQ:PL	0/0:113,0:113:99:0,120,1800	20	0	1	0
chr8	143720714	143720714	C	T	exonic	MAPK15	.	nonsynonymous SNV	MAPK15:NM_139021:exon9:c.C791T:p.T264M,	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.968	D	0.827	P	0.003	N	1.000	N	1.57	L	0.92	T	-1.019	T	0.064	T	0.115	1.114	9.544	-0.642	-0.408	2.049	1.510	0.093	.	0.0004	0.00579073	0.0057	0.0004	0.0424	0.0142	0.0103	0.0009	0.0016	0.0009	0.0041138	636	154602	rs146609910	0.0017	0.0017	0.0019	0.0016	0.0250	0.0016	0.0016	0.0238	0.0233	0.0005	0.0250	0.0004	0.0160	0.0066	0.0012	0.0002	0.0012	0.0003	0.0024	0.0024	0.0021	0.0026	0.0131	0.0022	0.0021	0.0106	0.0097	0.0006	0	0.0094	0.0006	0.0131	0.0085	0	0.0004	0.0005	0	0.232	0.18184	T	0.252	0.23570	T	0.968	0.56581	D	0.827	0.59428	P	0.003222	0.35241	N	0.273852	1	0.08975	N	1.645	0.42016	L	0.92	0.44461	T	-3.04	0.62863	D	0.267	0.30233	-1.0188	0.24106	T	0.064	0.26385	T	10	0.006958276	0.00158	T	.	.	.	0.093	0.26882	.	.	0.630531396591	0.62751	0.4058061931261441	0.40496	0.146378424685	0.16520	0.515318334103	0.40968	T	0.09621	0.39779	T	-0.609485	0.00128	T	-0.627988	0.10568	T	0.0446910830741326	0.04546	T	.	.	.	0.033374816	0.03544	0.05719384	0.10352	0.033374816	0.03543	0.05719384	0.10352	-9.074	0.68172	D	.	.	0.093	0.14201	B	.	.	2.404202	0.30891	18.58	0.99378876076603795	0.61803	0.60511	0.31216	D	AEFDGBCI	0.106464	0.21241	N	-0.387458348644193	0.25914	1.410391	-0.586124975877535	0.19854	1.067125	0.999989639172983	0.51787	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	3.77	-0.642	0.10909	0.909000	0.28180	.	.	-0.960000	0.01985	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.1688:0.469:0.1645:0.1977	1.510	0.02344	895	0.25842	Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1811.98	33	chr8	143720714	.	C	T	1811.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.43;DP=911;ExcessHet=0.0000;FS=0.632;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=0.647;SOR=0.663	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr8	143721618	143721618	G	A	exonic	MAPK15	.	nonsynonymous SNV	MAPK15:NM_139021:exon12:c.G1274A:p.G425E,	.	.	421	1096	5	0	0	5	0.00227583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.421	B	0.08	B	0.211	U	1.000	N	0.805	L	-0.72	T	-1.009	T	0.061	T	0.237	1.140	9.645	1.16	0.416	-0.154	4.358	0.059	.	.	0.00579073	0.0029	0	0.0009	0.0359	0.0002	0.0002	0.0011	0.0009	0.002652	410	154602	rs35834318	0.0013	0.0013	0.0013	0.0013	0.0424	0.0013	0.0013	0.0407	0.0401	2.991e-05	0.0005	0	0.0424	9.387e-05	0	0.0001	0.0010	0.0006	0.0012	0.0012	0.0012	0.0012	0.0300	0.0011	0.0010	0.0262	0.0247	4.81e-05	0	0.0003	0	0.0300	0	0	0.0002	0.0005	0.0010	0.008	0.58626	D	0.199	0.27679	T	0.421	0.35387	B	0.08	0.28873	B	0.211321	0.16358	U	0.526148	1	0.08975	N	2.39	0.68882	M	-0.72	0.72994	T	-1.59	0.38345	N	0.258	0.29197	-1.0093	0.27136	T	0.061	0.25563	T	10	0.0038855672	0.00074	T	.	.	.	0.059	0.16972	.	.	0.763320079665	0.76116	0.3355714248060343	0.33470	0.117895126679	0.13276	0.464598178864	0.33940	T	0.047461	0.27729	T	-0.432221	0.01437	T	-0.368565	0.37056	T	0.0313423332943114	0.02201	T	.	.	.	0.07885048	0.17980	0.09070122	0.21285	0.07885048	0.17979	0.09070122	0.21284	-3.331	0.14139	T	.	.	0.090	0.12702	B	.	.	0.953288	0.13297	9.797	0.87106021395945676	0.16992	0.02893	0.07682	N	AEFBCI	0.041119	0.06210	N	-0.885150955377113	0.11195	0.5389489	-1.00606868652647	0.09651	0.4814028	0.999673207516022	0.41644	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	2.06	1.16	0.19936	-0.114000	0.10729	.	.	0.491000	0.22372	0.000000	0.06391	0.082000	0.22400	0.006000	0.07323	0.205:0.0:0.795:0.0	4.358	0.10623	889	0.27310	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1818.98	35	chr8	143721618	.	G	A	1818.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.13;DP=986;ExcessHet=0.0000;FS=1.447;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.03;ReadPosRankSum=0.566;SOR=0.568	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1620	20	0	1	0
chr8	143727792	143727792	C	A	exonic	FAM83H	.	nonsynonymous SNV	FAM83H:NM_198488:exon5:c.G1669T:p.G557C,	Amelogenesis imperfecta, type III, Autosomal dominant	.	9	1502	10	1	0	12	0.00397878	.	.	790784	FAM83H-related_disorder|Amelogenesis_imperfecta,_hypocalcification_type|not_provided	.|MONDO:MONDO:0968955,MedGen:C0399376,Orphanet:100032,Orphanet:88661|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.985	D	0.628	P	0.004	U	0.999	N	0.895	L	2.42	T	-1.012	T	0.054	T	0.348	0.901	8.661	2.03	0.781	0.935	8.641	0.073	.	.	0.000199681	0.0057	0	0	0	.	0.0357	0	0.0022	0.0004528	70	154602	rs312262803	0.0027	0.0024	0.0026	0.0027	0.0044	0.0026	0.0026	0.0028	0.0028	0.0005	0.0021	0.0034	0	0.0017	0.0044	0.0029	0.0025	0.0016	0.0018	0.0018	0.0017	0.0018	0.0027	0.0016	0.0015	0.0024	0.0023	0.0005	0	0.0016	0.0026	0	0.0014	0.0068	0.0027	0.0028	0.0010	0.004	0.65419	D	0.033	0.53072	D	0.985	0.61118	D	0.628	0.51677	P	0.003643	0.00976	U	490.647000	0.999478	0.21134	N	2.24	0.63355	M	2.42	0.15376	T	-2.33	0.51646	N	0.385	0.42639	-1.0119	0.26322	T	0.054	0.22808	T	10	0.0055520833	0.00123	T	.	.	.	0.073	0.21317	.	.	0.043077524339	0.03247	0.2261153594599419	0.22526	1.00671276343	0.74603	0.878267168999	0.93726	D	0.097161	0.39971	T	-0.487841	0.00668	T	-0.467976	0.25735	T	0.0575124000905681	0.06771	T	.	.	.	0.17884576	0.38926	0.091350354	0.21473	0.17884576	0.38926	0.091350354	0.21473	-6.66	0.51508	T	.	.	0.175	0.38227	B	.	.	2.426817	0.31214	18.67	0.99383089065726871	0.61979	0.28214	0.23492	N	AEFDBCI	0.158577	0.28425	N	-0.229335003188708	0.31936	1.795754	-0.361278780663449	0.26162	1.443272	0.998224208389481	0.36603	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.32	2.03	0.25714	1.882000	0.39283	.	.	0.489000	0.22316	0.930000	0.32276	0.737000	0.26456	0.007000	0.07825	0.0:0.7073:0.0:0.2927	8.641	0.33140	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	793.98	21	chr8	143727792	.	C	A	793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.900e+00;DP=541;ExcessHet=0.0000;FS=1.057;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.70;ReadPosRankSum=-5.460e-01;SOR=0.901	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1120	20	0	1	0
chr8	143728365	143728365	C	G	exonic	FAM83H	.	nonsynonymous SNV	FAM83H:NM_198488:exon5:c.G1096C:p.A366P,	Amelogenesis imperfecta, type III, Autosomal dominant	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.001	B	0.002	B	0.000	U	1.000	N	0.805	L	2.39	T	-1.016	T	0.029	T	0.24	2.230	13.41	-2.0	-0.105	0.351	5.734	0.068	0.0923621668698	.	.	9.623e-05	0	0	0	.	0.0004	0	0	6.5e-06	1	154602	rs782789939	9.343e-06	8.893e-06	7.084e-06	1.167e-05	2.819e-05	5.21e-06	4.02e-06	3.2e-06	2.31e-06	0	2.819e-05	0	0	0	0	7.438e-06	6.947e-05	0	6.587e-06	6.567e-06	0	1.348e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.011	0.55530	D	0.153	0.32144	T	0.001	0.07471	B	0.002	0.06944	B	0.000005	0.00162	U	15.362100	1	0.08975	N	0.805	0.20218	L	2.39	0.15724	T	-1.68	0.40082	N	0.081	0.05670	-1.0160	0.25013	T	0.029	0.12541	T	10	0.05153206	0.05049	T	0.092362	0.75877	D	0.068	0.19811	.	.	0.0675242888579	0.06100	0.3166984424106218	0.31582	0.421488314731	0.42653	0.760809361935	0.76049	T	0.00674	0.06169	T	-0.338014	0.05527	T	-0.595532	0.13190	T	0.0832490660203979	0.10398	T	.	.	.	0.20822085	0.43052	0.31755742	0.57729	0.20822085	0.43052	0.31755742	0.57728	-3.129	0.11632	T	.	.	0.087	0.11076	B	.	.	1.303409	0.17054	12.93	0.98495337403994399	0.42144	0.08493	0.14415	N	AEFDBCI	0.128611	0.24646	N	-1.20443399818375	0.04934	0.2237975	-1.23444400646039	0.05365	0.2554631	0.998217545561369	0.36589	0.475244	0.09938	2	0.588066	0.40923	0	0.641878	0.46077	1	0.562822	0.20929	0	.	.	4.97	-2.0	0.07024	0.374000	0.20232	.	.	0.567000	0.28720	0.004000	0.16614	0.017000	0.20586	0.043000	0.14563	0.0:0.2487:0.3837:0.3676	5.734	0.17324	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	612.98	29	chr8	143728365	.	C	G	612.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.330e-01;DP=706;ExcessHet=0.0000;FS=2.754;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.04;ReadPosRankSum=0.032;SOR=1.179	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1148	20	0	1	0
chr8	143772430	143772430	A	C	exonic	IQANK1	.	nonsynonymous SNV	IQANK1:NM_001381874:exon7:c.A737C:p.K246T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.771e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19621214	0.35504	T	.	.	.	.	.	.	.	.	.	0.1279154898055373	0.12716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.913909	0.69352	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.44042	B	.	.	2.783371	0.36570	20.3	0.87187207485692642	0.17049	0.89065	0.49311	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999521940810875	0.40175	0.095506	0.02484	0	0.059962	0.00310	0	0.068936	0.01964	0	0.109499	0.03221	0	0.170855	0.28901	3.3	3.3	0.36912	0.920000	0.28325	.	.	0.587000	0.30956	0.263000	0.24978	1.000000	0.68203	0.995000	0.73285	0.8611:0.0:0.1389:0.0	5.039	0.13790	946	0.12043	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04545	31.1	3	chr8	143772430	.	A	C	31.1	.	AC=1;AF=0.045;AN=22;BaseQRankSum=0.00;DP=69;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1742;MLEAC=2;MLEAF=0.091;MQ=60.00;MQRankSum=0.00;QD=7.77;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,39	10	0	1	10
chr8	143803544	143803544	C	T	exonic	SCRIB	.	nonsynonymous SNV	SCRIB:NM_015356:exon24:c.G3442A:p.D1148N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.994	D	.	.	1.000	D	2.475	M	1.54	T	-0.722	T	0.181	T	0.238	3.488	17.84	4.82	2.222	5.492	15.112	0.250	0.22528103838	7.8e-05	.	3.122e-05	0.0005	0	0	0	0	0	0	1.94e-05	3	154602	rs138813890	2.066e-05	2.121e-05	1.782e-05	2.353e-05	0.0005	1.466e-05	1.272e-05	0.0003	0.0002	0.0005	0	0	0.0002	0	0	6.301e-06	1.661e-05	0	9.324e-05	9.27e-05	0.0001	6.813e-05	0.0003	5.6e-05	4.421e-05	0.0002	0.0001	0.0003	0	6.612e-05	0	0	0	0	0	0	0	0.004	0.68238	D	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	0.999879	0.50225	D	.	.	.	1.54	0.30133	T	-3.66	0.74051	D	0.819	0.81459	-0.7217	0.59379	T	0.181	0.52858	T	9	0.56563354	0.65034	D	0.225281	0.87990	D	0.271	0.58633	.	.	0.451049791843	0.44729	0.7127272423809204	0.71214	.	.	0.751028954983	0.74598	T	0.29311	0.66806	T	-0.304758	0.08218	T	-0.420495	0.31019	T	0.742136612358682	0.42852	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.798	0.79291	P	.;.;.	.;.;.	3.981068	0.58523	24.0	0.99812300179971136	0.89620	0.92049	0.54832	D	AEFDBHCI	0.575984	0.57816	D	0.162086836136301	0.49385	3.139548	0.0843612178183688	0.43760	2.671302	0.999999954392455	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.82	4.82	0.61641	7.256000	0.77768	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.012000	0.09680	0.0:1.0:0.0:0.0	15.112	0.72042	946	0.12043	PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	794.98	34	chr8	143803544	.	C	T	794.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.293e+00;DP=816;ExcessHet=0.0000;FS=0.948;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=1.29;SOR=0.569	GT:AD:DP:GQ:PL	0/0:32,0:32:90:0,90,1350	20	0	1	0
chr8	143863509	143863509	A	T	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.T9745A:p.S3249T,	.	.	823	691	8	0	0	8	0.0057554	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1388933876	0.0055	0.0033	0.0056	0.0054	0.0084	0.0053	0.0052	0.0080	0.0078	0.0003	0.0046	0.0045	0	0.0014	0.0052	0.0084	0.0038	0.0005	0.0020	0.0031	0.0022	0.0018	0.0041	0.0018	0.0017	0.0035	0.0033	0.0004	0	0.0024	0.0023	0	0.0002	0	0.0041	0.0036	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.03392	.	.	.	.	.	.	.	0.006229937	0.00140	T	.	.	.	.	.	.	.	.	.	0.03322241407721414	0.03270	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.747625	0.36808	T	.	.	.	.	.	.	.	.	-11.347	0.81527	D	.	.	0.092	0.13456	B	.;.	.;.	-1.169918	0.00562	0.014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.640000	0.00002	.	.	0.367000	0.20222	0.000000	0.06391	0.000000	0.08366	0.969000	0.54022	.	.	.	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03333	52.85	17	chr8	143863509	.	A	T	52.85	.	AC=1;AF=0.033;AN=30;BaseQRankSum=0.425;DP=293;ExcessHet=0.0000;FS=3.180;InbreedingCoeff=0.0241;MLEAC=1;MLEAF=0.033;MQ=37.61;MQRankSum=-1.090e+00;QD=0.94;ReadPosRankSum=1.29;SOR=1.341	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,938	14	0	1	6
chr8	143864144	143864144	C	A	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.G9110T:p.R3037L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0011	0.0004	0.0012	0.0336	0.0007	0.0006	0.0286	0.0267	0	0	0	0	0	0	4.275e-05	0.0005	0.0336	0.0007	0.0007	0.0004	0.0009	0.0294	0.0005	0.0005	0.0228	0.0205	3.622e-05	0	0	0	0	0	0	0	0	0.0294	0.067	0.35918	T	0.057	0.46406	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.41	0.69413	T	-1.33	0.33197	N	0.086	0.06720	.	.	.	.	.	.	.	0.0048879385	0.00104	T	.	.	.	.	.	.	.	.	.	0.18199454870846563	0.18118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317668	0.06346	T	.	.	.	.	.	.	.	.	-5.536	0.42204	T	.	.	0.109	0.20663	B	.;.	.;.	0.906927	0.12814	9.327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.218000	0.09246	.	.	0.000000	0.17513	0.000000	0.06391	0.022000	0.20871	0.285000	0.24139	.	.	.	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	223.59	2	chr8	143864144	.	C	A	223.59	.	AC=2;AF=0.071;AN=28;DP=104;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5103;MLEAC=3;MLEAF=0.107;MQ=36.91;QD=27.95;SOR=2.833	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,22	13	1	0	7
chr8	143866916	143866916	C	T	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.G6338A:p.G2113E,	.	.	9	1508	5	0	0	5	0.00165508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.999	D	0.986	D	.	.	0.978	D	2.49	M	-0.63	T	-0.174	T	0.487	T	0.694	4.011	20.6	4.39	2.270	3.665	14.507	0.574	0.0174385144651	7.9e-05	.	4.155e-05	0	8.645e-05	0	0	4.519e-05	0	6.056e-05	3.88e-05	6	154602	rs370476982	5.682e-05	5.678e-05	4.495e-05	6.881e-05	0.0005	4.68e-05	4.304e-05	0.0001	7.541e-05	0	0.0001	0	0	0	0.0005	5.756e-05	9.94e-05	5.797e-05	5.256e-05	5.253e-05	3.854e-05	6.724e-05	8.818e-05	2.557e-05	1.83e-05	3.761e-05	2.574e-05	2.413e-05	0	6.542e-05	0	0	0	0	8.818e-05	0	0	.	.	.	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	0.977528	0.39375	D	2.63	0.76995	M	.	.	.	.	.	.	0.277	0.31365	-0.1742	0.78326	T	0.487	0.80491	T	9	0.279162	0.45488	T	0.017439	0.39139	T	.	.	.	.	0.607054019504	0.60390	0.5599932224476786	0.55926	.	.	0.515493273735	0.40993	T	0.438698	0.78426	T	0.0155995	0.53786	T	-0.0108183	0.69630	D	0.585846424102783	0.35844	D	0.553245	0.19112	T	0.38573444	0.59728	0.32700732	0.58602	0.38573444	0.59728	0.32700732	0.58601	-11.184	0.80658	D	.	.	0.958	0.87827	P	.;.	.;.	3.401085	0.47136	22.4	0.99288330465668151	0.58184	0.97710	0.76577	D	AEFDGBI	0.432974	0.49463	N	0.217877457421226	0.52066	3.383209	0.0787439638717727	0.43481	2.648978	0.999999968885196	0.74766	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.39	4.39	0.52211	3.981000	0.56611	.	.	0.549000	0.26987	0.998000	0.41325	0.522000	0.25315	0.008000	0.08271	0.0:1.0:0.0:0.0	14.507	0.67342	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	9587.66	35	chr8	143866916	.	C	T	9587.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.057;DP=1318;ExcessHet=0.0000;FS=2.673;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=20.66;ReadPosRankSum=-9.080e-01;SOR=0.945	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1620	19	1	1	0
chr8	143867711	143867711	G	A	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.C5543T:p.A1848V,	.	.	5	1498	17	2	0	21	0.00696056	.	.	3205931	EPPK1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.29	T	0.711	P	0.077	B	.	.	1.000	N	0	N	-0.27	T	-1.075	T	0.094	T	0.09	3.338	17.24	3.16	1.380	-0.271	5.695	0.052	0.0132062523454	0.0038	0.00179712	0.0026	0.0018	0.0022	0	0.0008	0.0038	0.0034	0.0002	0.0025679	397	154602	rs150969952	0.0029	0.0029	0.0029	0.0029	0.0034	0.0028	0.0028	0.0033	0.0032	0.0016	0.0027	0.0019	2.519e-05	0.0010	0.0023	0.0034	0.0026	0.0002	0.0025	0.0025	0.0029	0.0022	0.0032	0.0023	0.0023	0.0028	0.0027	0.0026	0	0.0031	0.0017	0	0.0004	0	0.0032	0.0028	0	.	.	.	0.276	0.21947	T	.	.	.	.	.	.	.	.	.	.	0.999687	0.20694	N	0	0.06538	N	.	.	.	.	.	.	0.123	0.13341	-1.0746	0.08431	T	0.094	0.35711	T	9	0.004209399	0.00084	T	0.013206	0.32434	T	.	.	.	.	0.144782658237	0.14088	0.26489912317895625	0.26402	.	.	0.262516826391	0.05193	T	0.059103	0.31024	T	-0.577283	0.00200	T	-0.599669	0.12839	T	0.00597414431006768	0.00066	T	0.369363	0.08678	T	0.048964117	0.08619	0.06274012	0.12322	0.048964117	0.08619	0.06274012	0.12322	-5.535	0.42194	T	.	.	0.134	0.29004	B	.;.	.;.	1.842317	0.23403	16.00	0.98453592216810792	0.41654	0.10922	0.16286	N	AEFGBI	0.123544	0.23919	N	-0.608624970564768	0.18684	0.9720267	-0.603839674899333	0.19393	1.040331	0.999684625525396	0.41756	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.1	3.16	0.35406	0.568000	0.23326	.	.	0.618000	0.50648	0.000000	0.06391	0.002000	0.18203	0.409000	0.26983	0.0982:0.0:0.6232:0.2786	5.695	0.17124	964	0.07719	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2931.98	82	chr8	143867711	.	G	A	2931.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.430e-01;DP=1626;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=1.03;SOR=0.726	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1620	20	0	1	0
chr8	143868233	143868233	C	T	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.G5021A:p.R1674Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.787	P	0.09	B	.	.	1.000	N	-0.14	N	-0.4	T	-1.077	T	0.084	T	0.215	2.474	14.23	2.91	1.243	1.608	3.778	0.095	0.037033706059	.	0.000199681	3.348e-05	0	0	0.0003	0	0	0	6.064e-05	3.23e-05	5	154602	rs546299644	1.917e-05	1.915e-05	2.043e-05	1.789e-05	0.0002	1.329e-05	1.144e-05	1.093e-05	8.81e-06	2.987e-05	2.236e-05	0	5.038e-05	0	0.0002	1.709e-05	1.656e-05	3.478e-05	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	.	.	.	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.575	0.39704	L	.	.	.	.	.	.	0.164	0.17278	-1.0767	0.08003	T	0.084	0.32957	T	9	0.053402066	0.05526	T	0.037034	0.57367	D	.	.	0.473	0.54859	0.215109475489	0.21095	0.13621724776346694	0.13545	.	.	0.33433675766	0.15588	T	0.116099	0.43518	T	-0.405202	0.02140	T	-0.555393	0.16812	T	0.106351479887962	0.13042	T	0.926807	0.73035	D	0.06360007	0.13410	0.06278368	0.12336	0.06360007	0.13409	0.06278368	0.12336	-6.731	0.52043	T	.	.	0.095	0.14979	B	.;.	.;.	2.541173	0.32871	19.17	0.99758306885324199	0.84851	0.07084	0.13110	N	AEFGBI	0.085059	0.17242	N	-0.621123376112361	0.18311	0.9496136	-0.643263475368858	0.18387	0.9820101	0.999966131495209	0.48965	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.95	2.91	0.32903	1.299000	0.33028	.	.	-0.236000	0.07595	0.005000	0.17040	0.000000	0.08366	0.002000	0.04165	0.0:0.5759:0.2339:0.1902	3.778	0.08188	964	0.07719	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3260.98	82	chr8	143868233	.	C	T	3260.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.14;DP=1732;ExcessHet=0.0000;FS=3.546;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.39;MQRankSum=0.326;QD=13.20;ReadPosRankSum=-3.800e-01;SOR=0.500	GT:AD:DP:GQ:PL	0/0:98,0:98:99:0,120,1800	20	0	1	0
chr8	143918210	143918210	C	T	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon32:c.G11569A:p.G3857S	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	265905	Inborn_genetic_diseases|not_provided|not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.974	D	0.573	P	0.001	U	0.998	D	2.74	M	-0.73	T	-0.154	T	0.390	T	0.727	0.259	5.401	4.21	2.169	1.571	9.315	0.578	.	0.0009	0.00199681	0.0016	0.0007	0.0010	0.0098	0	0.0012	0.0017	0.0003	0.0011255	174	154602	rs201419047	0.0013	0.0013	0.0013	0.0013	0.0051	0.0013	0.0012	0.0045	0.0043	0.0002	0.0009	0	0.0051	5.441e-05	0.0008	0.0014	0.0011	0.0003	0.0010	0.0010	0.0011	0.0009	0.0066	0.0009	0.0008	0.0048	0.0042	0.0004	0	0.0007	0	0.0066	0	0	0.0012	0.0028	0.0002	0.002	0.72154	D	0.032	0.60337	D	0.974	0.57829	D	0.573	0.49966	P	0.000500	0.43931	U	0.087176	0.998323	0.44771	D	2.295	0.65404	M	-0.73	0.73100	T	-1.92	0.44852	N	0.224	0.30118	-0.1537	0.78825	T	0.390	0.74408	T	10	0.0066138804	0.00150	T	.	.	.	0.578	0.82968	.	.	0.767995865156	0.76587	0.68305954542972	0.68244	.	.	0.489253550768	0.37335	T	0.323239	0.69416	T	-0.181716	0.23480	T	-0.0293742	0.68410	D	0.0216583174307633	0.00871	T	0.952505	0.82627	D	0.023645332	0.01122	0.0634581	0.12572	0.028187621	0.02119	0.07484887	0.16415	-9.356	0.69959	D	0.6242081525451408	0.69291	0.111	0.21503	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.456521	0.31638	18.80	0.88120946569790259	0.17732	0.87986	0.47722	D	AEFDBHCI	0.538553	0.55589	D	0.27108370832694	0.54690	3.633875	0.166203405040766	0.48008	3.02259	0.999999923918294	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	4.21	4.21	0.48984	1.676000	0.37181	.	.	0.589000	0.31548	0.822000	0.30018	0.993000	0.31925	0.299000	0.24476	0.0:0.8984:0.0:0.1016	9.315	0.37088	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1565.98	100	chr8	143918210	.	C	T	1565.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.88;DP=1620;ExcessHet=0.0000;FS=3.918;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.98;ReadPosRankSum=-2.280e-01;SOR=0.368	GT:AD:DP:GQ:PL	0/0:88,0:88:99:0,120,1800	20	0	1	0
chr8	143918969	143918969	T	C	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon32:c.A10810G:p.M3604V	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	636664	not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia	MedGen:C3661900|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.001	B	0.004	B	0.000	U	1.000	D	0.895	L	-1.23	T	-0.737	T	0.266	T	0.396	0.784	8.136	3.18	0.700	5.989	9.694	0.268	0.110025468239	7.7e-05	0.000199681	7.555e-05	0.0004	0	0.0004	0	1.527e-05	0	6.06e-05	6.47e-05	10	154602	rs376442504	1.92e-05	2.052e-05	1.092e-05	2.756e-05	0.0002	1.331e-05	1.146e-05	9.928e-05	7.224e-05	0.0001	0.0001	0	0.0002	0	0	5.396e-06	3.313e-05	3.478e-05	0.0001	0.0001	0.0001	0.0001	0.0004	7.572e-05	6.278e-05	0.0002	0.0002	0.0004	0	0.0001	0	0	0	0	0	0	0	0.04	0.42487	D	0.022	0.59732	D	0.001	0.07471	B	0.004	0.10090	B	0.000000	0.84330	U	0.000000	0.999867	0.50061	D	0.89	0.21648	L	-1.24	0.79277	T	-1.48	0.36586	N	0.375	0.49237	-0.7372	0.58596	T	0.266	0.63695	T	10	0.14361328	0.27263	T	0.110025	0.78724	D	0.268	0.58254	.	.	0.707087877747	0.70453	0.748091437906144	0.74755	.	.	0.77140390873	0.77635	T	0.097761	0.40091	T	-0.208309	0.19617	T	-0.206997	0.53981	T	0.021950599449496	0.00903	T	0.884911	0.60954	D	0.2510183	0.48107	0.3246395	0.58386	0.2510183	0.48107	0.3246395	0.58385	-4.006	0.23893	T	0.5682943679152643	0.63561	0.671	0.71783	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.887086	0.23966	16.22	0.85837446686517049	0.16144	0.94726	0.62119	D	AEFDGBCI	0.733909	0.68020	D	-0.267258554041449	0.30420	1.696059	-0.138061801779062	0.33871	1.942141	0.999999413052442	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.35	3.18	0.35615	4.967000	0.63433	.	.	-0.120000	0.14102	1.000000	0.71638	0.998000	0.33993	0.005000	0.06747	0.0:0.0848:0.0:0.9152	9.694	0.39313	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	6846.98	221	chr8	143918969	.	T	C	6846.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.010e+00;DP=4065;ExcessHet=0.0000;FS=1.101;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.17;ReadPosRankSum=0.975;SOR=0.698	GT:AD:DP:GQ:PL	0/0:207,0:207:99:0,120,1800	20	0	1	0
chr8	143919407	143919407	C	T	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon32:c.G10372A:p.G3458S	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	U	1.000	D	3.735	H	-2.13	D	0.978	D	0.864	D	0.608	3.152	16.54	5.03	2.613	7.604	18.172	0.863	0.317296567187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	1.362e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000006	0.62929	U	0.000000	1	0.81001	D	4.065	0.97128	H	-2.13	0.86349	D	-2.87	0.62151	D	0.759	0.77413	0.978	0.96830	D	0.864	0.95479	D	10	0.97266114	0.96917	D	0.317297	0.91368	D	0.863	0.95839	0.888	0.97226	0.804712098452	0.80288	0.6352390361014003	0.63457	.	.	0.797273278236	0.81549	T	0.306744	0.67893	T	0.213307	0.75143	D	0.0686241	0.74818	D	0.998907089233398	0.95536	D	0.920408	0.71216	D	0.17714354	0.38664	0.28254586	0.54243	0.17714354	0.38664	0.28254586	0.54242	-11.999	0.84847	D	0.7223865745091111	0.80355	0.501	0.66700	A	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.731513	0.53380	23.4	0.97336163685586252	0.33452	0.98333	0.81724	D	AEFGBHCI	0.949719	0.96263	D	0.947973953546102	0.93904	12.35925	0.853908934774206	0.93244	11.91539	1.0	0.98316	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.03	5.03	0.67015	7.779000	0.84281	.	.	0.577000	0.29297	1.000000	0.71638	1.000000	0.68203	0.264000	0.23619	0.0:1.0:0.0:0.0	18.172	0.89682	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	4942.98	112	chr8	143919407	.	C	T	4942.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.91;DP=2216;ExcessHet=0.0000;FS=4.500;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.64;ReadPosRankSum=0.046;SOR=0.931	GT:AD:DP:GQ:PL	0/0:112,0:112:99:0,120,1800	20	0	1	0
chr8	143919814	143919814	G	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon32:c.C9965T:p.T3322M	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	457888	Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex,_Ogna_type|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|not_provided	MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.986	D	0.584	P	0.119	U	0.882	N	0.69	N	-0.34	T	-0.849	T	0.183	T	0.15	0.099	4.534	3.77	2.455	0.873	5.640	0.140	0.0679341789861	0.0002	.	8.562e-05	0	8.712e-05	0	0	7.834e-05	0	0.0002	6.47e-05	10	154602	rs199950917	7.325e-05	7.319e-05	6.539e-05	8.119e-05	0.0003	6.186e-05	5.746e-05	0.0002	0.0002	0	4.472e-05	0	0	0	0	7.014e-05	3.312e-05	0.0003	3.941e-05	3.94e-05	2.568e-05	5.377e-05	0.0002	1.715e-05	1.129e-05	7.99e-06	2.99e-06	4.822e-05	0	0	0	0	0	0	2.939e-05	0.0005	0.0002	0.043	0.46129	D	0.05	0.48594	T	0.986	0.61523	D	0.584	0.50293	P	0.118947	0.19094	U	0.433639	0.881701	0.28037	N	1.895	0.50365	L	-0.34	0.68474	T	-1.95	0.48184	N	0.306	0.41952	-0.8491	0.52031	T	0.183	0.53087	T	10	0.11528623	0.21715	T	0.067934	0.70308	D	0.140	0.37593	.	.	0.511162291539	0.50756	0.4045796208575317	0.40373	.	.	0.351956188679	0.18210	T	0.14053	0.47512	T	-0.315233	0.07294	T	-0.394394	0.34036	T	0.13060463102429	0.15438	T	0.924008	0.72230	D	0.029083451	0.02347	0.062279217	0.12159	0.029083451	0.02346	0.062279217	0.12159	-6.917	0.53425	T	0.13960578831071754	0.15551	0.082	0.08657	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.632710	0.34238	19.57	0.88069315786687863	0.17693	0.67391	0.33416	D	AEFDBCI	0.240752	0.36248	N	-0.0178209889996718	0.41051	2.448475	-0.0608446867450069	0.37024	2.162333	0.999753254634615	0.42595	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.73	3.77	0.42499	0.834000	0.27171	.	.	0.660000	0.55035	0.315000	0.25459	1.000000	0.68203	0.305000	0.24618	0.1024:0.0:0.6161:0.2815	5.640	0.16836	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	3667.98	112	chr8	143919814	.	G	A	3667.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.92;DP=2252;ExcessHet=0.0000;FS=2.443;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.95;ReadPosRankSum=-4.680e-01;SOR=0.851	GT:AD:DP:GQ:PL	0/0:112,0:112:99:0,120,1800	20	0	1	0
chr8	143920630	143920630	G	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon32:c.C9149T:p.T3050I	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1379464	Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q	MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	U	1.000	D	3.16	M	-1.51	D	0.691	D	0.727	D	0.593	1.648	11.47	4.06	1.964	6.542	15.401	0.784	0.415018517835	.	0.000199681	7.023e-05	0	0	0	0	1.605e-05	0	0.0004	5.82e-05	9	154602	rs530059869	3.851e-05	3.967e-05	9.585e-06	6.77e-05	0.0006	3.042e-05	2.734e-05	0.0005	0.0004	0	0	0	0	0	0	8.994e-07	4.973e-05	0.0006	1.313e-05	1.312e-05	1.285e-05	1.342e-05	0.0004	2.18e-06	8.2e-07	7.287e-05	3.028e-05	0	0	0	0	0	0	0	0	0	0.0004	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.92359	D	0.000009	0.62929	U	0.000000	1	0.81001	D	3.395	0.91620	M	-1.51	0.81399	D	-2.53	0.55025	D	0.681	0.73465	0.691	0.93061	D	0.727	0.90662	D	10	0.8922744	0.88572	D	0.415019	0.93677	D	0.784	0.92827	0.831	0.94042	0.789346890761	0.78739	0.8640924490305784	0.86373	.	.	0.674980759621	0.63549	T	0.302425	0.67482	T	-0.0828607	0.39248	T	-0.0205409	0.68992	D	0.530970804045007	0.33770	D	0.980535	0.93361	D	0.66870475	0.76363	0.5371365	0.73252	0.66870475	0.76365	0.5371365	0.73252	-11.58	0.82745	D	0.5691606440469772	0.63644	0.795	0.77513	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.854176	0.37691	20.6	0.94394776994419216	0.24779	0.98035	0.79053	D	AEFDGBCI	0.791936	0.72038	D	0.696358304424907	0.79394	7.068306	0.569097074653533	0.72734	5.857097	0.999999999997141	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.06	4.06	0.46572	4.019000	0.56893	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:0.0:1.0:0.0	15.401	0.74562	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	3713.98	210	chr8	143920630	.	G	A	3713.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.350;DP=2337;ExcessHet=0.0000;FS=6.721;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=0.303;SOR=0.422	GT:AD:DP:GQ:PL	0/0:112,0:112:99:0,120,1800	20	0	1	0
chr8	143921006	143921006	G	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon32:c.C8773T:p.R2925W	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	369391	not_provided|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.938	D	0.006	U	0.996	D	2.16	M	-1.32	T	0.403	D	0.642	D	0.5	2.069	12.87	4.82	2.404	3.986	17.030	0.601	0.203270904625	.	.	2.506e-05	0	0	0.0001	0	1.517e-05	0.0011	0	1.94e-05	3	154602	rs782575301	2.259e-05	2.326e-05	2.725e-05	1.789e-05	0.0002	1.611e-05	1.417e-05	8.198e-05	5.784e-05	2.987e-05	2.236e-05	0	0.0002	1.909e-05	0.0002	1.349e-05	9.937e-05	1.159e-05	3.285e-05	3.283e-05	3.853e-05	2.689e-05	0.0002	1.261e-05	7.98e-06	8e-06	2.99e-06	4.824e-05	0	6.542e-05	0	0.0002	0	0.0032	0	0	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.938	0.67350	D	0.006390	0.32067	U	0.183542	0.996157	0.43046	D	2.705	0.79137	M	-1.32	0.80035	T	-4.79	0.80682	D	0.731	0.75101	0.403	0.89145	D	0.642	0.87501	D	10	0.67540264	0.70961	D	0.203271	0.86866	D	0.601	0.84237	0.554	0.67133	0.767104620005	0.76497	0.6460771018736787	0.64542	.	.	0.598877727985	0.52745	T	0.452617	0.79288	T	-0.100278	0.36380	T	-0.0896701	0.64186	T	0.585886538831796	0.35845	D	0.940673	0.77758	D	0.12151604	0.28574	0.10162406	0.24335	0.12151604	0.28573	0.10162406	0.24334	-8.619	0.65215	D	0.4064903700181163	0.49749	0.183	0.41618	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.325511	0.66232	24.9	0.98497564426367268	0.42180	0.87720	0.47355	D	AEFDGBCI	0.787995	0.71761	D	0.634622542598961	0.75375	6.295114	0.597487545470333	0.74757	6.192006	0.999999999603871	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.82	4.82	0.61641	3.979000	0.56596	.	.	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	17.030	0.86332	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	9450.98	210	chr8	143921006	.	G	A	9450.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.578;DP=3702;ExcessHet=0.0000;FS=2.454;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.02;ReadPosRankSum=2.26;SOR=0.534	GT:AD:DP:GQ:PL	0/0:318,0:318:99:0,120,1800	20	0	1	0
chr8	143921353	143921353	C	T	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon32:c.G8426A:p.R2809H	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	636687	Inborn_genetic_diseases|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.999	D	0.877	P	0.001	U	1.000	D	2.945	M	-1.22	T	0.403	D	0.651	D	0.423	2.449	14.15	4.95	2.479	4.807	18.216	0.571	0.0428530600231	8.2e-05	0.000199681	8.373e-05	0.0002	0	0	0	7.573e-05	0	0.0002	7.12e-05	11	154602	rs376887979	8.828e-05	8.893e-05	0.0001	7.565e-05	0.0002	7.557e-05	7.104e-05	0.0001	7.82e-05	5.974e-05	0.0002	3.831e-05	0	0	0	9.803e-05	0	9.278e-05	0.0002	0.0002	0.0001	0.0002	0.0008	0.0001	0.0001	0.0005	0.0004	0.0002	0	0.0008	0	0	0	0	7.349e-05	0	0	0.072	0.36310	T	0.063	0.45318	T	0.998	0.77913	D	0.806	0.62241	P	0.000798	0.41772	U	0.092477	0.999955	0.52935	D	3.42	0.91902	M	-1.22	0.78752	T	-2.79	0.59059	D	0.487	0.52829	0.403	0.89142	D	0.651	0.87846	D	10	0.46621004	0.59585	T	0.042853	0.60682	D	0.571	0.82573	.	.	0.760182496916	0.75800	0.7483232319582304	0.74778	.	.	0.48180270195	0.36305	T	0.155356	0.49706	T	-0.175862	0.24352	T	-0.22109	0.52633	T	0.622240483760834	0.37298	D	0.933707	0.75150	D	0.12144033	0.28557	0.1437278	0.34147	0.12144033	0.28556	0.1437278	0.34146	-7.219	0.55618	T	0.7289737366860316	0.81056	0.189	0.40666	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.103042	0.61189	24.3	0.98686082582987755	0.44695	0.92507	0.55874	D	AEFGBCI	0.555486	0.56590	D	0.661873515209859	0.77139	6.617617	0.600397220060328	0.74970	6.228402	0.999999998255906	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.95	4.95	0.64894	4.866000	0.62702	.	.	0.585000	0.30472	1.000000	0.71638	1.000000	0.68203	0.319000	0.24947	0.0:1.0:0.0:0.0	18.216	0.89821	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4579.98	244	chr8	143921353	.	C	T	4579.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.91;DP=4399;ExcessHet=0.0000;FS=1.280;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.72;MQRankSum=-8.850e-01;QD=13.51;ReadPosRankSum=0.514;SOR=0.618	GT:AD:DP:GQ:PL	0/0:299,0:299:99:0,120,1800	20	0	1	0
chr8	143924276	143924276	C	T	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon31:c.G5611A:p.A1871T	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	2	1514	6	0	0	6	0.00197759	.	.	266524	not_specified|not_provided|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.24	T	1.0	D	0.997	D	0.009	U	0.949	D	1.39	L	-2.87	D	0.350	D	0.625	D	0.439	2.508	14.35	4.04	2.101	0.987	15.989	0.280	.	8e-05	0.00878594	0.0044	0.0001	0.0081	0.0308	0.0085	0.0010	0.0041	0.0014	0.0035122	543	154602	rs201070741	0.0020	0.0020	0.0020	0.0020	0.0429	0.0019	0.0019	0.0412	0.0405	0.0002	0.0062	0.0004	0.0429	0.0064	0.0007	0.0003	0.0025	0.0018	0.0026	0.0026	0.0023	0.0029	0.0374	0.0024	0.0023	0.0331	0.0314	0.0002	0	0.0022	0.0006	0.0374	0.0093	0	0.0006	0.0009	0.0037	0.081	0.37118	T	0.111	0.40110	T	1.0	0.90584	D	0.997	0.86255	D	0.009276	0.30438	U	0.190729	0.948955	0.37631	D	1.265	0.31966	L	-2.87	0.91478	D	-1.14	0.29727	N	0.551	0.58713	0.350	0.88331	D	0.625	0.86821	D	10	0.0057498217	0.00128	T	.	.	.	0.280	0.59740	.	.	0.764658292166	0.76251	0.4453153047724098	0.44449	.	.	0.514962077141	0.40918	T	0.099441	0.40426	T	-0.262414	0.12619	T	-0.127404	0.61189	T	0.0134982564548392	0.00247	T	0.961704	0.85587	D	0.05939172	0.12065	0.1413768	0.33669	0.06742676	0.14600	0.12342586	0.29761	-6.068	0.47809	T	0.15679323834645156	0.18889	0.082	0.09433	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.518538	0.32539	19.07	0.98784902344472714	0.46190	0.37148	0.25696	N	AEFDBCI	0.224221	0.34847	N	0.0441907962732565	0.43876	2.672049	-0.0912094851581915	0.35752	2.072	0.999999967902569	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.04	4.04	0.46262	1.095000	0.30575	.	.	0.584000	0.30380	0.344000	0.25709	0.998000	0.33993	0.419000	0.27206	0.0:1.0:0.0:0.0	15.989	0.79977	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3908.11	95	chr8	143924276	.	C	T	3908.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.701;DP=1464;ExcessHet=0.1072;FS=1.295;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=0.743;SOR=0.792	GT:AD:DP:GQ:PL	0/0:98,0:98:99:0,120,1800	19	0	2	0
chr8	143924453	143924453	G	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon31:c.C5434T:p.R1812W	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	7	1449	59	7	0	73	0.0245709	.	.	177252	not_specified|Arrhythmogenic_right_ventricular_dysplasia_1|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|not_provided	MedGen:CN169374|MONDO:MONDO:0007152,MedGen:C1862511,OMIM:107970,Orphanet:3403|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.003	U	0.996	D	1.61	L	-2.88	D	0.641	D	0.803	D	0.425	0.688	7.675	2.3	0.372	1.925	12.149	0.426	.	.	0.00339457	0.0098	0.0004	0.0033	0.0003	0.0007	0.0107	0.0101	0.0171	0.0040426	625	154602	rs200575795	0.0044	0.0044	0.0041	0.0048	0.0141	0.0043	0.0043	0.0130	0.0127	0.0005	0.0028	0.0307	0.0001	0.0009	0.0141	0.0034	0.0065	0.0137	0.0037	0.0037	0.0037	0.0036	0.0142	0.0034	0.0033	0.0115	0.0105	0.0004	0.0121	0.0026	0.0326	0.0002	0.0009	0	0.0042	0.0062	0.0142	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.002697	0.36102	U	0.108057	0.99568	0.42807	D	2.24	0.63355	M	-2.88	0.91533	D	-1.88	0.46673	N	0.49	0.54234	0.641	0.92429	D	0.803	0.93323	D	10	0.007696271	0.00175	T	.	.	.	0.426	0.73372	.	.	0.538698623518	0.53521	0.6664321229980325	0.66581	.	.	0.520834326744	0.41744	T	0.366939	0.73210	T	-0.225344	0.17271	T	-0.0847904	0.64552	T	0.0308348928505275	0.02119	T	0.990268	0.96984	D	0.1167003	0.27523	0.07219795	0.15548	0.09942296	0.23464	0.09908997	0.23646	-9.825	0.73726	D	0.5669249192020892	0.63433	0.153	0.38924	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.400946	0.47136	22.4	0.98261974105264538	0.39676	0.48628	0.28250	N	AEFDBCI	0.457677	0.50902	N	-0.266233349672278	0.30461	1.698689	-0.464760334146812	0.23131	1.259887	0.999895881367692	0.45129	0.695654	0.57023	0	0.577304	0.33150	0	0.723109	0.80598	0	0.636168	0.56350	0	.	.	4.2	2.3	0.27735	2.651000	0.46338	.	.	-0.177000	0.10537	0.124000	0.23245	1.000000	0.68203	0.092000	0.17891	0.0:0.0:0.6888:0.3112	12.149	0.53344	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.04762	2222.11	57	chr8	143924453	.	G	A	2222.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.13;DP=1177;ExcessHet=0.1072;FS=0.617;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.43;ReadPosRankSum=2.67;SOR=0.619	GT:AD:DP:GQ:PL	0/0:98,0:98:99:0,120,1800	19	0	2	0
chr8	143924593	143924593	C	T	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon31:c.G5294A:p.R1765H	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	0	1519	2	1	0	4	0.00131492	.	.	636739	Inborn_genetic_diseases|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.997	D	0.039	U	0.657	N	1.245	L	-3.04	D	0.687	D	0.805	D	0.379	1.266	10.13	4.2	2.181	2.523	16.336	0.337	0.56053869197	.	.	0	0	0	0	0	0	0	0	.	.	.	rs782762319	1.002e-05	1.368e-05	1.133e-05	8.681e-06	0.0001	5.82e-06	4.55e-06	5.352e-05	3.494e-05	0	0	0	0.0001	0	0	5.523e-06	3.433e-05	1.241e-05	6.583e-06	6.57e-06	1.287e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.006	0.61437	D	0.013	0.63109	D	0.999	0.90584	D	0.995	0.86255	D	0.038735	0.24252	U	0.275863	0.657281	0.30480	N	2.045	0.56016	M	-3.04	0.92357	D	-1.13	0.29933	N	0.534	0.59901	0.687	0.93008	D	0.805	0.93421	D	10	0.51054186	0.62071	D	0.560539	0.95986	D	0.337	0.65913	0.135	0.03920	0.771858422565	0.76976	0.38790890229349145	0.38705	.	.	0.572866261005	0.49082	T	0.08029	0.36327	T	0.118	0.66150	D	-0.0685656	0.65728	T	0.198249211799896	0.20319	T	0.966803	0.87909	D	0.09384753	0.22050	0.099493325	0.23757	0.09384753	0.22050	0.099493325	0.23757	-6.859	0.53720	T	0.3029111643540685	0.40038	0.118	0.24599	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.664430	0.74481	26.2	0.99543427119837857	0.70648	0.81787	0.41122	D	AEFBCI	0.272274	0.38794	N	0.340908900690821	0.58262	3.997368	0.263880918528326	0.53442	3.513231	0.999941759716073	0.47345	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.2	4.2	0.48814	4.026000	0.56942	.	.	0.565000	0.28586	0.996000	0.39380	1.000000	0.68203	0.536000	0.29845	0.0:1.0:0.0:0.0	16.336	0.82897	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2282.98	53	chr8	143924593	.	C	T	2282.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.130e-01;DP=1223;ExcessHet=0.0000;FS=1.155;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=0.154;SOR=0.600	GT:AD:DP:GQ:PL	0/1:86,95:183:99:2297,0,1976	20	0	1	0
chr8	143925343	143925343	C	T	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon31:c.G4544A:p.R1515H	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	370134	not_specified|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_with_nail_dystrophy	MedGen:CN169374|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.13	T	0.999	D	0.884	P	0.018	U	1.000	N	1.445	L	1.9	T	-0.323	T	0.505	D	0.408	0.738	7.918	4.49	2.046	1.412	16.787	0.159	0.653667156034	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1057520714	1.145e-05	1.231e-05	1.274e-05	1.012e-05	2.62e-05	6.78e-06	5.48e-06	7.47e-06	5.84e-06	0	2.62e-05	0	0	2.889e-05	0	1.287e-05	0	0	4.602e-05	4.595e-05	5.144e-05	4.034e-05	0.0002	2.11e-05	1.527e-05	1.973e-05	1.125e-05	0	0	6.538e-05	0	0.0002	0	0	5.886e-05	0	0.0002	0.024	0.50132	D	0.019	0.60337	D	0.999	0.77913	D	0.884	0.62758	P	0.017811	0.27632	U	0.225179	1	0.08975	N	1.9	0.50570	L	1.9	0.77336	T	-2.0	0.47683	N	0.538	0.60325	-0.3225	0.74352	T	0.505	0.81368	D	10	0.60756004	0.67261	D	0.653667	0.97075	D	0.159	0.41286	0.184	0.09259	0.698281041325	0.69567	0.35768449750307735	0.35682	.	.	0.683434486389	0.64763	T	0.287355	0.66015	T	0.0080933	0.52764	T	-0.226151	0.52142	T	0.192845448851585	0.20010	T	0.956971	0.83666	D	0.0619323	0.12881	0.056792367	0.10211	0.08544344	0.19819	0.100439504	0.24015	-6.842	0.53425	T	0.2503662939533261	0.33887	0.169	0.37083	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.018821	0.59339	24.1	0.96702081243007532	0.30777	0.13305	0.17780	N	AEFDBCI	0.080872	0.16358	N	0.0120097754845968	0.42400	2.554041	-0.132444239555937	0.34090	1.95715	0.999999967681023	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	2.180000	0.42167	.	.	0.589000	0.31548	0.849000	0.30428	0.999000	0.35428	0.006000	0.07323	0.0:1.0:0.0:0.0	16.787	0.85439	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	641.98	37	chr8	143925343	.	C	T	641.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.459;DP=919;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=0.660;SOR=0.588	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,119,1461	20	0	1	0
chr8	143929461	143929461	-	CAGCGG	exonic	PLEC	.	nonframeshift insertion	PLEC:NM_201378:exon24:c.2991_2992insCCGCTG:p.L997_D998insPL	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	523735	not_provided|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_with_nail_dystrophy|not_specified	MedGen:C3661900|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	9.577e-05	0	0.0006	.	.	.	rs782308502	3.535e-05	3.694e-05	1.652e-05	5.443e-05	0.0004	2.732e-05	2.47e-05	0.0003	0.0002	0	2.365e-05	0	0	2.033e-05	0.0004	7.244e-06	0.0001	0.0004	2.628e-05	2.627e-05	3.854e-05	1.345e-05	0.0002	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1749.94	51	chr8	143929461	.	C	CCAGCGG	1749.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.644;DP=873;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.49;ReadPosRankSum=-2.205e+00;SOR=0.684	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1003	20	0	1	0
chr8	143942342	143942403	GAGAGCGATGGTGGCCCCTTCTGTGCCACCGGCCACGCCACTGCACCCACCTACGCAGCACA	-	exonic	PLEC	.	nonframeshift deletion	PLEC:NM_201383:exon1:c.113_124del:p.L38_D42delinsH,	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	0	1517	5	0	0	5	0.00164528	.	.	3219869	PLEC-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	0.0012	0.0013	0.0011	0.0013	0.0072	0.0011	0.0011	0.0053	0.0046	0.0012	0.0010	0.0003	0.0009	2.144e-05	0.0072	0.0010	0.0015	0.0035	0.0015	0.0015	0.0014	0.0016	0.0044	0.0013	0.0013	0.0029	0.0025	0.0016	0	0.0011	0.0006	0.0021	0	0.0068	0.0016	0.0014	0.0044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	346.94	33	chr8	143942341	.	TGAGAGCGATGGTGGCCCCTTCTGTGCCACCGGCCACGCCACTGCACCCACCTACGCAGCACA	T	346.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.23;DP=709;ExcessHet=0.0000;FS=1.330;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.71;ReadPosRankSum=-6.810e-01;SOR=0.970	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1081	20	0	1	0
chr8	143950615	143950615	C	T	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201380:exon1:c.G92A:p.R31Q,	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	0	1517	4	1	0	6	0.00197368	.	.	441220	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.05	D	0.068	B	0.016	B	0.701	U	1.000	D	0	N	-0.99	T	-0.961	T	0.152	T	0.193	1.667	11.53	0.133	0.087	0.296	2.254	0.121	0.142756902032	0.0005	0.000199681	0.0012	0.0004	0.0013	0	0	0.0012	0.0049	0.0020	0.0006921	107	154602	rs200842821	0.0008	0.0008	0.0007	0.0008	0.0024	0.0007	0.0007	0.0017	0.0017	8.975e-05	0.0005	0.0058	0	0	0.0024	0.0006	0.0011	0.0020	0.0005	0.0005	0.0005	0.0006	0.0007	0.0004	0.0004	0.0006	0.0005	0.0001	0	0.0002	0.0055	0	0	0.0034	0.0007	0.0009	0.0006	0.046	0.40573	D	0.189	0.28575	T	0.068	0.23728	B	0.016	0.17743	B	0.700769	0.10096	U	0.775582	1	0.81001	D	0.11	0.08516	N	-0.99	0.75911	T	-0.58	0.17417	N	0.134	0.13055	-0.9608	0.39031	T	0.152	0.48084	T	10	0.008136094	0.00185	T	0.142757	0.82512	D	0.121	0.33580	.	.	0.382087116544	0.37822	0.46158072802116046	0.46076	.	.	0.531237483025	0.43209	T	0.060504	0.31403	T	-0.439081	0.01309	T	-0.4225	0.30788	T	0.0185790087778679	0.00573	T	0.791921	0.43319	T	0.06455693	0.13709	0.08955138	0.20949	0.08578492	0.19914	0.105275	0.25303	-2.577	0.06330	T	.	.	0.102	0.18080	B	.	.	2.100432	0.26722	17.22	0.94301372999683819	0.24612	0.07456	0.13473	N	AEFDGBHCI	0.100770	0.20255	N	-1.10727227871809	0.06512	0.300011	-1.08646534974655	0.07966	0.3896666	0.999999999572926	0.74766	0.542737	0.22433	0	0.546412	0.12157	0	0.584781	0.30282	0	0.638787	0.57140	0	.	.	4.9	0.133	0.14066	0.694000	0.25190	.	.	-0.896000	0.02358	0.276000	0.25103	0.999000	0.35428	0.449000	0.27873	0.3678:0.2747:0.2625:0.095	2.254	0.03803	970	0.06235	Plectin/S10, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	859.98	37	chr8	143950615	.	C	T	859.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.00;DP=833;ExcessHet=0.0000;FS=5.015;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.41;ReadPosRankSum=-9.040e-01;SOR=0.760	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,996	20	0	1	0
chr8	143986135	143986135	C	T	exonic	PARP10	.	nonsynonymous SNV	PARP10:NM_001317895:exon1:c.G137A:p.R46H	.	.	399	1121	2	0	0	2	0.000891266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.007	B	0.003	B	0.832	N	1.000	N	0	N	3.41	T	-0.996	T	0.032	T	0.275	0.748	7.967	-4.68	-0.620	-0.415	7.805	0.011	0.00530851611353	0.0002	.	0.0001	0	0	0	0	0.0002	0	0	8.41e-05	13	154602	rs200680602	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0	0.0002	0	0	0	0.0003	0.0002	0.0002	0	0.0002	0.0002	0.0002	0.0001	0.0005	0.0001	0.0001	0.0002	0.0002	2.408e-05	0	0.0005	0	0	0	0	0.0003	0	0	0.626	0.22224	T	0.292	0.20877	T	0.007	0.14184	B	0.003	0.08700	B	0.831666	0.06945	N	1.094130	0.999962	0.18878	N	0.235	0.09667	N	3.41	0.33189	T	-0.71	0.36980	N	0.169	0.17966	-0.9957	0.31109	T	0.032	0.13723	T	10	0.029503018	0.01076	T	0.005309	0.13587	T	0.011	0.01250	.	.	0.28492961333	0.28089	0.31694499901165285	0.31607	0.649232544592	0.58242	0.478252053261	0.35815	T	0.025107	0.36090	T	-0.430377	0.01474	T	-0.562496	0.16143	T	0.0601691033235948	0.07196	T	0.647735	0.29402	T	0.03070018	0.02780	0.04384523	0.05547	0.03070018	0.02779	0.04384523	0.05546	-5.435	0.41255	T	.	.	0.141	0.49147	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.124106	0.15103	11.59	0.93832963680026216	0.23821	0.05629	0.11538	N	ALL	0.065590	0.12800	N	-1.40920599424375	0.02557	0.1130775	-1.45137122097268	0.02758	0.1274228	0.999999999998811	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.576033	0.28219	0	0.71	0.69187	0	.	.	4.36	-4.68	0.03070	-0.444000	0.06926	.	.	-0.184000	0.09925	0.535000	0.27228	0.003000	0.18671	0.540000	0.29938	0.0:0.1905:0.1385:0.6709	7.805	0.28361	970	0.06235	PARP-10, RNA recognition motif 1 and 2;PARP-10, RNA recognition motif 1 and 2;PARP-10, RNA recognition motif 1 and 2;PARP-10, RNA recognition motif 1 and 2;PARP-10, RNA recognition motif 1 and 2;PARP-10, RNA recognition motif 1 and 2;PARP-10, RNA recognition motif 1 and 2;PARP-10, RNA recognition motif 1 and 2;PARP-10, RNA recognition motif 1 and 2;PARP-10, RNA recognition motif 1 and 2;PARP-10, RNA recognition motif 1 and 2;PARP-10, RNA recognition motif 1 and 2;PARP-10, RNA recognition motif 1 and 2;PARP-10, RNA recognition motif 1 and 2;PARP-10, RNA recognition motif 1 and 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1439.98	40	chr8	143986135	.	C	T	1439.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=839;ExcessHet=0.0000;FS=0.742;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.26;ReadPosRankSum=0.423;SOR=0.804	GT:AD:DP:GQ:PL	0/1:46,55:101:99:1454,0,1032	20	0	1	0
chr8	144039956	144039956	G	A	exonic	SPATC1	.	nonsynonymous SNV	SPATC1:NM_001134374:exon2:c.G259A:p.E87K	.	.	416	1090	15	1	0	17	0.00773782	.	.	2330110	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.83	T	0.994	D	0.668	P	0.016	N	1.000	N	1.995	M	0.74	T	-0.962	T	0.142	T	0.279	3.535	18.04	3.7	2.267	2.032	9.148	0.133	0.0151421831396	0.0007	0.000199681	0.0009	0.0004	0.0010	0	0	0.0012	0.0033	0.0007	0.0008732	135	154602	rs199507567	0.0008	0.0008	0.0008	0.0008	0.0134	0.0008	0.0007	0.0110	0.0101	0.0004	0.0009	0.0074	0	0	0.0134	0.0006	0.0014	0.0008	0.0006	0.0006	0.0006	0.0006	0.0007	0.0005	0.0005	0.0006	0.0005	9.632e-05	0	0.0004	0.0069	0	0	0.0068	0.0007	0.0014	0.0004	0.039	0.57480	D	0.291	0.20944	T	0.994	0.66517	D	0.668	0.53048	P	0.016262	0.28022	N	0.251856	0.999995	0.08975	N	1.79	0.46772	L	0.74	0.50459	T	-1.97	0.45587	N	0.464	0.52119	-0.9616	0.38877	T	0.142	0.46312	T	10	0.010044575	0.00225	T	0.015142	0.35698	T	0.133	0.36157	.	.	0.218112801441	0.21410	0.38886355171559134	0.38801	0.327646396377	0.34895	0.462852954865	0.33703	T	0.020233	0.15966	T	-0.413544	0.01883	T	-0.440918	0.28706	T	0.0297870838569755	0.01956	T	0.80202	0.44827	T	0.08216754	0.18915	0.19419034	0.43028	0.08216754	0.18915	0.19419034	0.43027	-3.96	0.23203	T	.	.	0.172	0.57448	B	.;.	.;.	3.866900	0.56112	23.7	0.99888875270921496	0.96359	0.46627	0.27802	N	AEFDBCI	0.131075	0.24988	N	0.166849326952825	0.49611	3.159694	0.13408147778796	0.46302	2.87857	0.974805925770533	0.29575	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.6	3.7	0.41607	2.101000	0.41411	.	.	0.676000	0.76740	0.978000	0.35038	1.000000	0.68203	0.901000	0.43729	0.1094:0.0:0.8906:0.0	9.148	0.36108	970	0.06235	Speriolin, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2182.98	36	chr8	144039956	.	G	A	2182.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=850;ExcessHet=0.0000;FS=2.082;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.95;ReadPosRankSum=-5.700e-02;SOR=0.875	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1473	20	0	1	0
chr8	144041354	144041354	C	G	exonic	SPATC1	.	nonsynonymous SNV	SPATC1:NM_198572:exon4:c.C1429G:p.P477A,	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.965	D	0.599	P	0.000	D	1.000	D	2.39	M	-0.07	T	-0.501	T	0.283	T	0.411	2.296	13.64	3.6	1.010	5.666	8.540	0.263	0.0778834012165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.057e-06	2.052e-06	0	4.135e-06	2.519e-05	5.5e-07	1.5e-07	.	.	0	0	0	2.519e-05	0	0	8.993e-07	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.013	0.63109	D	0.965	0.56013	D	0.599	0.50715	P	0.000221	0.47681	D	0.083754	1	0.81001	D	1.055	0.26876	L	-0.07	0.63738	T	-6.9	0.93293	D	0.565	0.58883	-0.5011	0.68610	T	0.283	0.65537	T	10	0.38921952	0.54768	T	0.077883	0.72875	D	0.263	0.57612	0.423	0.46693	0.326616659874	0.32268	0.7299409666048834	0.72939	0.461430799888	0.45681	0.656992316246	0.60980	T	0.073985	0.34828	T	-0.128326	0.31766	T	-0.252979	0.49522	T	0.951071858406067	0.63479	D	0.884911	0.60954	D	0.07262676	0.16171	0.1438515	0.34173	0.07262676	0.16171	0.1438515	0.34172	-2.343	0.04795	T	.	.	0.761	0.75539	P	.	.	4.292705	0.65474	24.8	0.99142271807225535	0.53573	0.90672	0.52044	D	AEFDGBCI	0.486158	0.52545	N	0.334860169693101	0.57946	3.964177	0.25061807138038	0.52683	3.441663	0.999997246900012	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.48	3.6	0.40374	4.097000	0.57471	.	.	0.596000	0.33519	0.739000	0.29016	1.000000	0.68203	0.935000	0.47363	0.0:0.8896:0.0:0.1104	8.540	0.32549	970	0.06235	Speriolin, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1042.98	37	chr8	144041354	.	C	G	1042.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.250e-01;DP=815;ExcessHet=0.0000;FS=0.756;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=1.63;SOR=0.825	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1473	20	0	1	0
chr8	144046676	144046676	G	A	exonic	SPATC1	.	nonsynonymous SNV	SPATC1:NM_198572:exon5:c.G1496A:p.R499K,	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.001	B	0.001	B	0.383	N	0.999	N	0	N	1.04	T	-1.006	T	0.039	T	0.071	1.047	9.276	1.08	0.179	-0.068	4.144	0.008	0.00470747511698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	2.052e-06	1.363e-06	2.754e-06	0.0002	5.5e-07	1.5e-07	.	.	2.987e-05	0	0	0	0	0.0002	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.21385	T	0.732	0.05128	T	0.001	0.07471	B	0.001	0.04355	B	0.383415	0.13358	N	0.726893	1	0.21497	N	0	0.06538	N	1.04	0.40218	T	-0.09	0.08340	N	0.1	0.08227	-1.0061	0.28126	T	0.039	0.16892	T	10	0.018320084	0.00397	T	0.004707	0.11722	T	0.008	0.00669	0.276	0.22845	0.0138822411134	0.00435	0.6023596860347361	0.60166	0.0874412039859	0.09862	0.344850480556	0.17160	T	0.002867	0.02258	T	-0.340275	0.05369	T	-0.726558	0.04485	T	0.0324611727048194	0.02382	T	0.144286	0.01174	T	0.038469024	0.05131	0.10383971	0.24925	0.038469024	0.05130	0.10383971	0.24925	-3.653	0.18627	T	.	.	0.095	0.14842	B	.	.	0.725937	0.10952	7.616	0.87137613448826934	0.17015	0.16799	0.19554	N	AEFDGBCI	0.056991	0.10580	N	-1.30840661364357	0.03578	0.1600917	-1.20932207027366	0.05759	0.2753221	0.999953700269545	0.48110	0.59774	0.34471	0	0.610034	0.51514	0	0.61531	0.40942	0	0.63947	0.58350	0	.	.	5.07	1.08	0.19456	0.217000	0.17389	.	.	-1.788000	0.00641	0.002000	0.15269	0.001000	0.17328	0.316000	0.24877	0.0:0.5372:0.1732:0.2896	4.144	0.09672	970	0.06235	Speriolin, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2031.98	136	chr8	144046676	.	G	A	2031.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.995;DP=820;ExcessHet=0.0000;FS=2.212;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.94;ReadPosRankSum=-6.550e-01;SOR=0.512	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1095	20	0	1	0
chr8	144080528	144080528	G	A	exonic	EXOSC4	.	nonsynonymous SNV	EXOSC4:NM_019037:exon3:c.G665A:p.R222Q,	.	.	425	1092	5	0	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.238	B	0.006	B	0.001	D	1.000	D	0.895	L	-0.6	T	-1.010	T	0.120	T	0.362	2.311	13.68	3.6	0.664	2.715	7.635	0.100	0.0314054298692	0.0020	0.00119808	0.0017	0.0006	0.0019	0	0.0002	0.0026	0.0033	0.0001	0.001824	282	154602	rs142724505	0.0024	0.0024	0.0024	0.0023	0.0028	0.0023	0.0023	0.0027	0.0026	0.0005	0.0017	0.0034	0	0.0004	0.0026	0.0028	0.0028	0.0001	0.0017	0.0017	0.0018	0.0016	0.0028	0.0015	0.0015	0.0025	0.0023	0.0003	0.0011	0.0012	0.0063	0	0.0006	0.0034	0.0028	0.0033	0.0002	0.31	0.14017	T	0.295	0.20680	T	0.238	0.30817	B	0.006	0.12133	B	0.000618	0.42945	D	0.158497	0.969281	0.38717	D	1.245	0.31408	L	-0.6	0.71662	T	-1.09	0.28497	N	0.173	0.18512	-1.0098	0.26981	T	0.120	0.41821	T	10	0.0076925457	0.00175	T	0.031405	0.53498	D	0.100	0.28662	.	.	0.585747170787	0.58248	0.3679500600596126	0.36709	0.517269899588	0.49598	0.401758491993	0.25314	T	0.037652	0.24552	T	-0.36026	0.04115	T	-0.289311	0.45844	T	0.0112996751851261	0.00167	T	0.717928	0.33234	T	0.06324162	0.13297	0.09545806	0.22639	0.06324162	0.13297	0.09545806	0.22638	-4.868	0.35373	T	.	.	0.092	0.16319	B	.;.	.;.	2.928032	0.38891	20.8	0.98596158361126696	0.43440	0.73412	0.35910	D	AEFGBCI	.	.	.	-0.583064150931244	0.19459	1.018599	-0.469079609292601	0.23011	1.252709	0.999999875093878	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.38	3.6	0.40374	2.666000	0.46464	3.883000	0.40251	-0.712000	0.03928	0.994000	0.38300	1.000000	0.68203	0.775000	0.36711	0.2614:0.0:0.7386:0.0	7.635	0.27427	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1128.98	34	chr8	144080528	.	G	A	1128.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.05;ReadPosRankSum=0.250;SOR=0.685	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1508	20	0	1	0
chr8	144099773	144099773	C	T	exonic	SHARPIN	.	nonsynonymous SNV	SHARPIN:NM_030974:exon4:c.G589A:p.V197I,	.	.	428	1083	10	1	0	12	0.00550964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.002	B	0.001	B	0.139	N	1.000	N	-0.29	N	1.98	T	-1.041	T	0.030	T	0.057	-0.986	0.282	-8.48	-1.902	-2.070	9.288	0.006	0.00327893460144	0.0002	0.000998403	0.0015	0	0.0002	0	0	0.0002	0.0023	0.0096	0.0012031	186	154602	rs113734637	0.0006	0.0006	0.0004	0.0009	0.0089	0.0006	0.0006	0.0084	0.0082	5.974e-05	4.473e-05	3.826e-05	0	0	0.0024	0.0001	0.0004	0.0089	0.0004	0.0004	0.0004	0.0005	0.0106	0.0003	0.0003	0.0082	0.0074	2.407e-05	0	0	0	0	0	0	0.0002	0	0.0106	0.265	0.16305	T	0.591	0.08189	T	0.002	0.09854	B	0.001	0.04355	B	0.139022	0.02870	N	1.731550	1	0.08975	N	-0.185	0.04235	N	1.98	0.21865	T	-0.48	0.15379	N	0.147	0.14905	-1.0406	0.17132	T	0.030	0.12935	T	10	0.008582443	0.00194	T	0.003279	0.07268	T	0.006	0.00375	.	.	0.0482279557977	0.04254	0.127868874853879	0.12711	0.125980353182	0.14199	0.303288936615	0.10892	T	0.042826	0.26306	T	-0.73257	0.00023	T	-0.818524	0.01483	T	0.0274239196232161	0.01605	T	0.381062	0.09207	T	0.0242122	0.01230	0.026055746	0.00677	0.0242122	0.01230	0.026055746	0.00676	-5.293	0.39874	T	.	.	0.068	0.02702	B	.	.	-2.354174	0.00045	0.001	0.62339489665253112	0.06937	0.03800	0.09130	N	AEFBCI	0.042797	0.06686	N	-2.01380295624049	0.00198	0.008466632	-2.08082253520812	0.00205	0.009032203	0.999999994859592	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.24	-8.48	0.00815	-2.672000	0.00915	-11.175000	0.00628	-2.537000	0.00251	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.546:0.2544:0.1996	9.288	0.36929	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1024.98	36	chr8	144099773	.	C	T	1024.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=845;ExcessHet=0.0000;FS=4.723;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=0.464;SOR=1.262	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1268	20	0	1	0
chr8	144107758	144107758	C	G	exonic	WDR97	.	nonsynonymous SNV	WDR97:NM_001316309:exon1:c.C8G:p.A3G,	.	.	421	1084	17	0	0	17	0.00778032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	0.317	N	1.000	N	.	.	-0.01	T	-0.910	T	0.153	T	0.067	1.936	12.43	1.09	0.071	-0.344	5.011	0.046	0.0543548204991	.	0.00219649	0.0024	0	0.0054	0	0	0.0022	0.0076	0.0025	0.0007374	114	154602	rs190983697	0.0052	0.0046	0.0055	0.0050	0.0105	0.0050	0.0050	0.0080	0.0072	0.0006	0.0015	0	0	0.0386	0.0105	0.0037	0.0045	0.0023	0.0052	0.0052	0.0036	0.0070	0.0037	0.0049	0.0048	0.0033	0.0032	0.0006	0	0.0014	0	0	0.0439	0.0170	0.0037	0.0071	0.0021	0.015	0.52492	D	0.069	0.43913	T	.	.	.	.	.	.	0.317280	0.04052	N	1.680790	1	0.08975	N	.	.	.	-0.01	0.62762	T	-0.5	0.15782	N	0.082	0.05799	-0.9103	0.46818	T	0.153	0.48291	T	7	0.0027304888	0.00042	T	0.054355	0.65824	D	0.046	0.12618	.	.	0.256793551483	0.25290	0.061702400619057574	0.06110	.	.	.	.	.	0.004014	0.03423	T	-0.585458	0.00179	T	-0.611551	0.11859	T	0.00679817641278158	0.00077	T	0.417158	0.10968	T	0.09915313	0.23397	0.08844971	0.20624	0.09915313	0.23397	0.08844971	0.20623	-3.987	0.23609	T	.	.	0.102	0.18122	B	.	.	0.343813	0.07174	3.759	0.96676548787672589	0.30682	0.16133	0.19246	N	AEFDGBHCI	0.085799	0.17395	N	-0.535270810962422	0.20947	1.108	-0.704745723588057	0.16843	0.8928796	0.999999649078095	0.74766	0.578255	0.32838	2	0.150725	0.03546	3	0.378051	0.06126	2	0.711	0.71501	0	.	.	4.33	1.09	0.19517	-0.575000	0.05953	-0.958000	0.06789	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.4663:0.4275:0.0:0.1063	5.011	0.13655	970	0.06235	.	.	.	.	.	rs190983697	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1859.98	46	chr8	144107758	.	C	G	1859.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.941e+00;DP=1055;ExcessHet=0.0000;FS=0.586;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=-3.350e-01;SOR=0.607	GT:AD:DP:GQ:PL	0/1:78,83:161:99:1874,0,1883	20	0	1	0
chr8	144115528	144115528	T	G	exonic	WDR97	.	nonsynonymous SNV	WDR97:NM_001316309:exon22:c.T4265G:p.L1422R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.881	P	0.236	B	.	.	1.000	N	.	.	-0.11	T	-0.892	T	0.108	T	0.275	2.397	13.98	-9.96	-1.800	-0.721	5.803	0.205	0.104578848541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.006	0.70582	D	0.881	0.48446	P	0.236	0.38470	B	.	.	.	.	1	0.08975	N	.	.	.	-0.11	0.64445	T	-0.82	0.22508	N	0.073	0.04668	-0.8918	0.48775	T	0.108	0.39221	T	8	0.12984443	0.24708	T	0.104579	0.77923	D	0.205	0.49236	0.219	0.14078	0.459552425292	0.45580	0.18519753984325202	0.18437	.	.	0.276206612587	0.06969	T	0.005759	0.05208	T	-0.151135	0.28133	T	-0.454872	0.27161	T	0.162813046754446	0.18077	T	0.351165	0.07832	T	0.13031599	0.30411	0.0955533	0.22667	0.13031599	0.30411	0.0955533	0.22667	-3.599	0.17842	T	.	.	0.096	0.15206	B	.	.	-0.107970	0.03593	0.703	0.91797068982866237	0.21103	0.04374	0.09949	N	AEFDBI	0.095453	0.19285	N	-0.974593320495563	0.09149	0.4317982	-1.24928813036213	0.05141	0.2442839	0.999999996654648	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.98	-9.96	0.00366	-1.756000	0.01911	-0.059000	0.12448	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.4143:0.3774:0.0:0.2083	5.803	0.17688	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	227.98	38	chr8	144115528	.	T	G	227.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.730e-01;DP=701;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.12;ReadPosRankSum=-7.350e-01;SOR=0.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,108,1173	20	0	1	0
chr8	144116115	144116115	C	T	exonic	WDR97	.	nonsynonymous SNV	WDR97:NM_001316309:exon24:c.C4691T:p.A1564V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	T	0.028	B	0.004	B	.	.	1.000	N	.	.	0.2	T	-1.001	T	0.051	T	0.01	0.041	4.229	-5.91	-0.925	-1.203	0.191	0.134	0.0125728293798	.	.	.	.	.	.	.	.	.	.	.	.	.	rs979737780	4.526e-05	5.088e-05	5.644e-05	3.627e-05	8.807e-05	2.826e-05	2.331e-05	3.76e-05	2.962e-05	8.807e-05	0	0	0	0	0	6.317e-05	9.671e-05	1.647e-05	4.996e-05	4.917e-05	8.262e-05	1.482e-05	0.0001	2.274e-05	1.632e-05	5e-05	3.227e-05	0.0001	0	0	0	0	0	0	3.083e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.028	0.19712	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	.	.	.	0.2	0.60111	T	0.07	0.06138	N	0.014	0.00160	-1.0013	0.29545	T	0.051	0.21611	T	8	0.024826765	0.00697	T	0.012573	0.31260	T	0.134	0.36365	0.225	0.14960	0.0884992946249	0.08302	0.0729842930610539	0.07235	.	.	0.373326122761	0.21308	T	0.001267	0.00750	T	-0.339438	0.05427	T	-0.725355	0.04541	T	0.0196586221972802	0.00669	T	0.455954	0.13062	T	0.028249143	0.02134	0.044989936	0.05953	0.028249143	0.02134	0.044989936	0.05953	-3.736	0.19850	T	.	.	0.101	0.17573	B	.	.	-0.070566	0.03821	0.814	0.21696912851834305	0.00839	0.00818	0.03310	N	AEFDBI	0.045604	0.07476	N	-1.31182190903891	0.03539	0.1582599	-1.43395926006379	0.02918	0.1351726	0.999397833070131	0.39470	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.28	-5.91	0.02080	-1.118000	0.03391	-0.810000	0.07338	0.522000	0.23927	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.2952:0.1553:0.2017:0.3479	0.191	0.00125	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	646.98	33	chr8	144116115	.	C	T	646.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.346e+00;DP=665;ExcessHet=0.0000;FS=1.179;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.69;ReadPosRankSum=-5.760e-01;SOR=0.513	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1081	20	0	1	0
chr8	144179494	144179494	G	C	exonic	MROH1	.	nonsynonymous SNV	MROH1:NM_001099281:exon4:c.G208C:p.E70Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.997	D	0.986	D	0.000	U	1.000	D	2.175	M	-0.13	T	-0.221	T	0.449	T	0.474	3.558	18.14	4.83	2.238	8.216	15.396	0.206	0.0449197286581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.32929	T	0.0	0.92824	D	0.767	0.70673	P	0.561	0.76916	P	0.000136	0.49741	U	0.077050	0.990805	0.41240	D	2.46	0.71463	M	-0.13	0.66294	T	-2.31	0.51319	N	0.584	0.65501	-0.2206	0.77135	T	0.449	0.78401	T	10	0.35322917	0.52134	T	0.04492	0.61725	D	0.206	0.49396	0.348	0.34436	0.182106788282	0.17826	0.33627208126849295	0.33540	0.375262532947	0.38983	0.478738188744	0.35883	T	0.028483	0.20623	T	0.0359415	0.56511	T	-0.186149	0.55949	T	0.966437518596649	0.67582	D	0.89481	0.63428	D	0.11555973	0.27268	0.14766023	0.34934	0.11555973	0.27268	0.14766023	0.34933	-4.654	0.43201	T	.	.	0.168	0.37652	B	.;.;.;.	.;.;.;.	4.545232	0.71481	25.7	0.99691061420548488	0.79909	0.98313	0.81530	D	AEFDGBI	0.847203	0.76406	D	0.570791402872075	0.71357	5.63855	0.534712516939081	0.70339	5.49098	0.999999998314351	0.74766	0.732398	0.92422	0	0.643519	0.57511	0	0.26897	0.05253	2	0.727631	0.95156	0	.	.	4.83	4.83	0.61880	6.552000	0.73813	9.648000	0.81164	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.634000	0.32262	0.0:0.0:1.0:0.0	15.396	0.74519	970	0.06235	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1124.98	40	chr8	144179494	.	G	C	1124.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.210e-01;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=-8.070e-01;SOR=0.720	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1174	20	0	1	0
chr8	144258878	144258878	C	T	exonic	MROH1	.	nonsynonymous SNV	MROH1:NM_001288814:exon34:c.C3866T:p.S1289L	.	.	407	1110	3	2	0	7	0.00314324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.998	D	0.979	D	0.006	N	1.000	N	2.015	M	1.0	T	-0.853	T	0.220	T	0.323	2.852	15.50	4.28	1.948	3.175	14.252	0.107	0.0337670213489	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1005336507	0.0022	0.0022	0.0022	0.0021	0.0060	0.0021	0.0020	0.0037	0.0031	0.0011	0.0007	0.0016	0	0.0003	0.0060	0.0033	0.0016	0.0003	0.0021	0.0021	0.0021	0.0020	0.0035	0.0019	0.0018	0.0032	0.0030	0.0007	0	0.0018	0.0017	0	0.0003	0.0034	0.0035	0.0033	0.0002	0.034	0.45039	D	0.032	0.92824	D	0.997	0.73220	D	0.788	0.74454	P	0.006001	0.32354	N	0.197732	1	0.08975	N	2.015	0.55033	M	1.0	0.41392	T	-3.21	0.66206	D	0.328	0.38129	-0.8534	0.51732	T	0.220	0.58358	T	10	0.10876858	0.20263	T	0.033767	0.55213	D	0.107	0.30369	0.319	0.29741	0.110392049598	0.10638	0.3797835650580712	0.37893	0.194208701575	0.21755	0.70612347126	0.68031	T	0.028408	0.20584	T	-0.134168	0.30822	T	-0.430499	0.29879	T	0.978583574295044	0.72399	D	0.928507	0.73679	D	0.15568125	0.35173	0.14618824	0.34642	0.15568125	0.35172	0.14618824	0.34641	-3.475	0.21253	T	.	.	0.109	0.21877	B	.;.;.;.	.;.;.;.	3.032701	0.40627	21.2	0.99771708899876155	0.86003	0.73150	0.35785	D	AEFGI	0.192734	0.31988	N	0.258045633147015	0.54039	3.570457	0.150365078966404	0.47162	2.950548	0.61949960253286	0.21873	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	4.28	4.28	0.50183	1.745000	0.37904	1.415000	0.26314	0.599000	0.40250	0.003000	0.16062	0.001000	0.17328	0.370000	0.26111	0.0:1.0:0.0:0.0	14.252	0.65575	940	0.13648	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	901.98	33	chr8	144258878	.	C	T	901.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=756;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=0.436;SOR=0.664	GT:AD:DP:GQ:PL	0/1:33,35:68:99:916,0,800	20	0	1	0
chr8	144260696	144260696	C	T	exonic	MROH1	.	nonsynonymous SNV	MROH1:NM_001288814:exon38:c.C4373T:p.T1458M	.	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.955	P	0.276	B	0.849	N	1.000	N	0.69	N	0.91	T	-1.070	T	0.059	T	0.14	0.807	8.244	1.99	0.120	0.101	5.386	0.171	0.0620161544513	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1439689990	1.435e-05	1.908e-05	3.504e-06	2.341e-05	2.287e-05	6.75e-06	4.89e-06	1.083e-05	8.1e-06	0	0	0	0	1.923e-05	0	2.287e-05	0	0	2.627e-05	2.626e-05	1.284e-05	4.033e-05	0.0002	8.14e-06	5.14e-06	1.918e-05	1.032e-05	7.234e-05	0	0	0	0.0002	0	0	0	0	0	0.016	0.52492	D	0.025	0.66756	D	0.925	0.54515	P	0.142	0.40142	B	0.849261	0.08975	N	0.928712	1	0.08975	N	1.39	0.34934	L	0.91	0.44856	T	-1.03	0.39692	N	0.146	0.20793	-1.0700	0.09413	T	0.059	0.24723	T	10	0.13452551	0.25602	T	0.062016	0.68517	D	0.171	0.43483	0.542	0.65446	0.043077524339	0.03247	0.2556528650513262	0.25479	0.421239601649	0.42633	0.470488220453	0.34747	T	0.012895	0.11252	T	-0.263843	0.12454	T	-0.616769	0.11440	T	0.18537013791614	0.19568	T	0.574643	0.20620	T	0.014990115	0.00117	0.026074946	0.00678	0.014990115	0.00117	0.026074946	0.00678	-4.233	0.28858	T	.	.	0.075	0.06710	B	.;.;.;.	.;.;.;.	1.361847	0.17710	13.32	0.99609880902294945	0.74753	0.05017	0.10797	N	AEFGI	0.084896	0.17208	N	-0.644956526043051	0.17607	0.9074603	-0.754248348993852	0.15618	0.822301	5.10338610534625E-5	0.03989	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	3.94	1.99	0.25423	-0.623000	0.05643	1.600000	0.27578	-0.190000	0.09434	0.000000	0.06391	0.009000	0.19889	0.001000	0.02609	0.3061:0.3155:0.3784:0.0	5.386	0.15518	940	0.13648	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	981.98	37	chr8	144260696	.	C	T	981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.142;DP=816;ExcessHet=0.0000;FS=1.850;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=-1.750e-01;SOR=0.502	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1094	20	0	1	0
chr8	144260938	144260938	C	T	exonic	MROH1	.	nonsynonymous SNV	MROH1:NM_001288814:exon39:c.C4541T:p.P1514L	.	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.998	D	0.000	D	1.000	D	2.495	M	-0.38	T	-0.118	T	0.463	T	0.443	2.871	15.56	3.5	1.657	4.065	12.900	0.395	0.574619260752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.396e-06	7.952e-06	0	1.174e-05	8.578e-06	1.5e-06	1.01e-06	2.28e-06	6.3e-07	0	0	0	0	0	0	8.578e-06	3.038e-05	0	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.88582	D	0.000001	0.62929	D	0.000000	0.999992	0.58761	D	2.76	0.80626	M	-0.38	0.69027	T	-5.77	0.94702	D	0.415	0.51137	-0.1184	0.79671	T	0.463	0.79190	T	10	0.63976157	0.68989	D	0.574619	0.96166	D	0.395	0.71004	0.468	0.54052	0.421022328559	0.41717	0.6032129531011171	0.60252	0.284799426863	0.30896	0.715548276901	0.69397	T	0.133541	0.46427	T	0.0452583	0.57731	T	-0.172766	0.57190	T	0.997216463088989	0.91033	D	0.944006	0.78847	D	0.3998577	0.60722	0.24018739	0.49387	0.3998577	0.60723	0.24018739	0.49385	-6.769	0.54667	T	.	.	0.156	0.48715	B	.;.;.;.	.;.;.;.	3.291688	0.45147	22.1	0.99791895149233112	0.87750	0.94997	0.63064	D	AEFGI	0.396361	0.47287	N	0.327991429837495	0.57590	3.926858	0.180385015085692	0.48771	3.088796	0.966118721169499	0.28880	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	3.5	3.5	0.39181	3.089000	0.49880	3.275000	0.37188	0.583000	0.30283	0.685000	0.28485	0.859000	0.27469	0.062000	0.16114	0.0:1.0:0.0:0.0	12.900	0.57511	940	0.13648	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1191.98	91	chr8	144260938	.	C	T	1191.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=926;ExcessHet=0.0000;FS=2.741;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.10;ReadPosRankSum=-8.670e-01;SOR=0.453	GT:AD:DP:GQ:PL	0/0:86,0:86:99:0,120,1800	20	0	1	0
chr8	144264323	144264323	C	T	exonic	BOP1	.	nonsynonymous SNV	BOP1:NM_015201:exon7:c.G880A:p.G294R,	.	.	423	1092	7	0	0	7	0.00319489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	.	.	.	.	0.000	D	0.877	D	.	.	1.28	T	-0.999	T	0.076	T	0.383	-0.685	1.021	3.56	1.980	4.137	13.046	0.052	0.0172353317573	.	.	.	.	.	.	.	.	.	.	.	.	.	rs908585250	0.0004	0.0004	0.0003	0.0006	0.0060	0.0004	0.0004	0.0056	0.0054	0	2.242e-05	0	0.0003	0	0.0013	6.027e-05	0.0004	0.0060	0.0002	0.0002	0.0001	0.0003	0.0062	0.0002	0.0002	0.0045	0.0039	0	0	0.0001	0	0	0	0	5.883e-05	0	0.0062	1.0	0.00964	T	0.63	0.07196	T	.	.	.	.	.	.	0.000037	0.55875	D	0.069540	.	.	.	.	.	.	1.28	0.35960	T	0.13	0.05503	N	0.32	0.36043	-0.9994	0.30087	T	0.076	0.30645	T	6	0.06855351	0.09712	T	0.076895	0.72640	D	.	.	.	.	0.34333109794	0.33943	0.42831638114400555	0.42748	.	.	0.908814251423	0.97357	D	0.031854	0.22228	T	-0.122611	0.32698	T	-0.413898	0.31778	T	0.964915215969086	0.67105	D	.	.	.	0.12488934	0.29290	0.11567794	0.27925	0.12488934	0.29290	0.11567794	0.27924	-12.71	0.88133	D	.	.	0.574	0.67806	P	.	.	3.442201	0.47889	22.5	0.87679086664119155	0.17402	0.94608	0.61722	D	AEFGI	0.415872	0.48455	N	-0.170914129029816	0.34349	1.959521	-0.230425106861143	0.30451	1.714694	0.998389121111752	0.36869	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	3.56	3.56	0.39892	1.749000	0.37946	7.562000	0.60503	0.587000	0.30956	0.990000	0.36992	1.000000	0.68203	0.413000	0.27073	0.0:1.0:0.0:0.0	13.046	0.58337	946	0.12043	BOP1, N-terminal domain|BOP1, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2404.98	37	chr8	144264323	.	C	T	2404.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.553;DP=939;ExcessHet=0.0000;FS=0.571;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.32;ReadPosRankSum=0.131;SOR=0.760	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1137	20	0	1	0
chr8	144317564	144317564	C	T	exonic	DGAT1	.	nonsynonymous SNV	DGAT1:NM_012079:exon12:c.G961A:p.E321K,	.	.	412	1107	3	0	0	3	0.00135318	.	.	1496977	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.999	D	0.97	D	0.000	D	1.000	D	2.965	M	-0.72	T	0.331	D	0.587	D	0.949	4.783	26.9	5.27	2.475	6.520	16.376	0.829	0.279053805273	.	.	0.0002	0	0.0015	0	0	1.501e-05	0.0022	0	0.0001294	20	154602	rs782473207	3.421e-05	3.42e-05	3.268e-05	3.576e-05	0.0010	2.632e-05	2.375e-05	0.0008	0.0007	0	0.0010	0	0	0	0.0002	1.799e-06	4.968e-05	0	1.315e-05	1.314e-05	2.57e-05	0	0.0001	2.19e-06	8.2e-07	2.264e-05	9.08e-06	0	0	0.0001	0	0	0	0	0	0	0	.	.	.	0.005	0.72224	D	0.999	0.77913	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.345	0.91022	M	.	.	.	.	.	.	0.888	0.88687	0.331	0.88037	D	0.587	0.85176	D	10	0.7060068	0.72742	D	0.279054	0.90164	D	.	.	0.674	0.81200	0.576245406411	0.57293	0.828360222609323	0.82794	.	.	0.717919409275	0.69744	T	0.634444	0.88712	D	0.17101	0.71217	D	0.409489	0.92415	D	0.662914395332336	0.39024	D	.	.	.	0.55302376	0.70124	0.34580886	0.60258	0.5980379	0.72587	0.37414548	0.62586	-12.216	0.85887	D	.	.	0.986	0.92555	P	.	.	5.291676	0.88845	29.8	0.99930530220529057	0.99334	0.99307	0.94267	D	AEFDGBHCI	0.803446	0.72858	D	0.774207482580139	0.84469	8.296566	0.690832719841779	0.81681	7.584188	0.999999999999999	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.27	5.27	0.73797	4.165000	0.57984	7.390000	0.58507	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:1.0:0.0:0.0	16.376	0.83226	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2332.98	38	chr8	144317564	.	C	T	2332.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=929;ExcessHet=0.0000;FS=11.105;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=0.404;SOR=0.681	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	20	0	1	0
chr8	144353958	144353958	G	A	exonic	TMEM249	.	stopgain	TMEM249:NM_001252404:exon2:c.C343T:p.R115X,	.	.	417	1090	14	1	0	16	0.00728597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	1.630	11.41	-4.57	-0.908	-1.174	5.439	.	.	.	0.00219649	0.0114	0	0	0	0	0.0161	0.0088	0.0106	0.001824	282	154602	rs145236969	0.0065	0.0061	0.0064	0.0065	0.0100	0.0063	0.0063	0.0094	0.0092	0.0008	0.0010	0.0193	0	0.0015	0.0041	0.0066	0.0068	0.0100	0.0039	0.0039	0.0038	0.0039	0.0085	0.0036	0.0035	0.0064	0.0057	0.0010	0	0.0016	0.0202	0.0002	0.0013	0.0102	0.0057	0.0028	0.0085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99997	0.18612	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.752077	0.00017	T	-0.845834	0.01015	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273884	0.06514	2.994	0.91014845869555183	0.20265	0.00585	0.02632	N	AEFDGBI	0.025819	0.01834	N	-1.16729778039715	0.05501	0.2509456	-1.36833075699779	0.03594	0.1679818	0.999996047227951	0.74766	0.65757	0.49021	0	0.588066	0.40923	0	0.619478	0.44681	0	0.604944	0.38103	0	.	.	3.53	-4.57	0.03178	-1.146000	0.03302	-4.994000	0.01895	-0.149000	0.12139	0.056000	0.21631	0.000000	0.08366	0.101000	0.18331	0.3531:0.4553:0.1916:0.0	5.439	0.15794	940	0.13648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2047.98	34	chr8	144353958	.	G	A	2047.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.32;DP=859;ExcessHet=0.0000;FS=4.996;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=-9.540e-01;SOR=0.391	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,109,1461	20	0	1	0
chr8	144358228	144358228	C	G	exonic	FBXL6	.	nonsynonymous SNV	FBXL6:NM_012162:exon1:c.G220C:p.G74R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.739	P	0.474	P	0.385	U	1.000	N	-0.345	N	1.97	T	-1.067	T	0.028	T	0.196	2.646	14.81	2.86	1.794	1.564	7.726	0.040	0.0226730695118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.892e-06	2.052e-06	1.794e-06	2.001e-06	2.21e-06	3.2e-07	1.2e-07	3.7e-07	1.4e-07	0	0	0	0	0	0	2.21e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.33923	T	0.015	0.61642	D	.	.	.	.	.	.	0.384948	0.13337	U	0.589490	1	0.08975	N	.	.	.	1.95	0.22474	T	-0.35	0.12847	N	0.2	0.22098	-1.0672	0.10039	T	0.028	0.12147	T	10	0.13017225	0.24773	T	0.022673	0.45580	T	0.040	0.10527	0.37	0.38013	0.400033932507	0.39614	0.30576973568950594	0.30489	1.40364346394	0.85259	0.835518479347	0.87409	D	.	.	.	-0.224095	0.17437	T	-0.559674	0.16408	T	0.182114447850982	0.19368	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.31956	B	.;.	.;.	1.192663	0.15842	12.14	0.91315444827724968	0.20577	0.07255	0.13279	N	ALL	0.084755	0.17179	N	-0.574999681579084	0.19706	1.033461	-0.63776653053104	0.18526	0.9900571	0.999999999984011	0.74766	0.65757	0.49021	0	0.218748	0.04544	0	0.619478	0.44681	0	0.56214	0.19341	0	.	.	3.77	2.86	0.32427	1.009000	0.29487	0.343000	0.17400	0.574000	0.29054	0.003000	0.16062	0.000000	0.08366	0.005000	0.06747	0.0:0.8687:0.0:0.1313	7.726	0.27928	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	187.98	34	chr8	144358228	.	C	G	187.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.299;DP=679;ExcessHet=0.0000;FS=2.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=-1.540e-01;SOR=0.180	GT:AD:DP:GQ:PL	0/0:32,0:32:90:0,90,1211	20	0	1	0
chr8	144360232	144360232	C	T	exonic	SLC52A2	.	nonsynonymous SNV	SLC52A2:NM_001253815:exon3:c.C740T:p.S247F	Brown-Vialetto-Van Laere syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1440091	Brown-Vialetto-van_Laere_syndrome_2|Inborn_genetic_diseases	MONDO:MONDO:0013867,MedGen:C3553538,OMIM:614707,Orphanet:572550,Orphanet:97229|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.012	B	0.001	B	0.593	N	1.000	N	0	N	-0.73	T	-0.933	T	0.171	T	0.173	0.194	5.048	1.41	0.431	0.421	6.923	0.111	0.0528746305217	.	0.000199681	3.342e-05	0	8.673e-05	0	0	4.587e-05	0	0	3.23e-05	5	154602	rs538577149	1.301e-05	1.3e-05	1.09e-05	1.514e-05	2.236e-05	8.32e-06	6.71e-06	1.012e-05	8.35e-06	0	2.236e-05	0	0	0	0	1.619e-05	0	0	1.313e-05	1.312e-05	1.285e-05	1.343e-05	6.531e-05	2.18e-06	8.2e-07	.	.	0	0	6.531e-05	0	0	0	0	1.47e-05	0	0	0.047	0.48186	D	0.029	0.57587	D	0.012	0.16265	B	0.001	0.04355	B	0.592704	0.11034	N	0.798126	1	0.20103	N	0.975	0.24501	L	-0.95	0.75438	T	-1.9	0.49846	N	0.202	0.22357	-0.9326	0.43755	T	0.171	0.51293	T	10	0.040178776	0.02566	T	0.052875	0.65245	D	0.111	0.31313	0.173	0.07894	0.193865811164	0.18958	0.2757789564987619	0.27490	0.143104410359	0.16145	0.426124334335	0.28678	T	0.343689	0.71231	T	-0.222193	0.17695	T	-0.42649	0.30335	T	0.0397732558381112	0.03649	T	.	.	.	0.04180401	0.06225	0.056717265	0.10183	0.04180401	0.06224	0.056717265	0.10182	-6.929	0.53514	T	.	.	0.113	0.22644	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.355330	0.17637	13.28	0.95341252358103734	0.26713	0.19029	0.20499	N	AEFGBI	0.190838	0.31806	N	-1.05939653291289	0.07405	0.3438636	-1.00886880814528	0.09590	0.4779595	0.999919244742604	0.45857	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.73	1.41	0.21461	-0.140000	0.10323	-0.013000	0.13032	-0.202000	0.08738	0.010000	0.18352	0.001000	0.17328	0.010000	0.09038	0.0:0.6058:0.0:0.3942	6.923	0.23577	940	0.13648	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1777.98	33	chr8	144360232	.	C	T	1777.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.87;DP=882;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=1.15;SOR=0.650	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	20	0	1	0
chr8	144394890	144394890	G	A	exonic	CPSF1	.	stopgain	CPSF1:NM_013291:exon30:c.C3406T:p.R1136X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	8.694	41	4.86	2.424	3.978	13.840	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.851e-06	6.84e-06	6.816e-06	6.887e-06	2.988e-05	3.47e-06	2.53e-06	3.85e-06	1.44e-06	2.988e-05	0	0	0	0	0	4.499e-06	3.315e-05	2.32e-05	6.572e-06	6.567e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.428	0.46742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.528224	0.95112	D	0.520981	0.95039	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	11.938650	0.99963	56	0.99771214854560786	0.85918	0.85977	0.45176	D	AEFGBCI	0.126186	0.24301	N	0.773836204432098	0.84445	8.290049	0.628242141090879	0.77000	6.59574	0.934860974000259	0.27189	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.86	4.86	0.62624	2.313000	0.43395	9.860000	0.82050	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.900000	0.43643	0.0:0.0:1.0:0.0	13.840	0.62925	940	0.13648	Cleavage/polyadenylation specificity factor, A subunit, C-terminal;Cleavage/polyadenylation specificity factor, A subunit, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1575.98	42	chr8	144394890	.	G	A	1575.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.944;DP=966;ExcessHet=0.0000;FS=2.660;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.60;ReadPosRankSum=-5.340e-01;SOR=0.473	GT:AD:DP:GQ:PL	0/1:44,57:101:99:1590,0,1192	20	0	1	0
chr8	144415265	144415265	A	G	exonic	SLC39A4	.	nonsynonymous SNV	SLC39A4:NM_001374839:exon2:c.T347C:p.F116S	Acrodermatitis enteropathica, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.941	D	0.015	N	0.702	D	2.045	M	0.52	T	-0.208	T	0.291	T	0.703	3.258	16.93	5.3	2.031	2.261	11.672	0.280	0.849960203712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.941	0.67658	D	0.014829	0.28418	N	0.363928	0.702214	0.33433	D	1.7	0.43825	L	0.52	0.55266	T	-6.3	0.90976	D	0.751	0.81658	-0.2078	0.77471	T	0.291	0.66249	T	10	0.893324	0.88680	D	0.84996	0.98843	D	0.280	0.59740	0.821	0.93395	0.67630082121	0.67355	0.8765522331343594	0.87622	0.688017825404	0.60412	0.757491767406	0.75557	T	0.592538	0.86822	D	0.0672872	0.60517	T	-0.141123	0.60021	T	0.965054512023926	0.67148	D	0.70423	0.31438	T	0.13226381	0.30803	0.2513995	0.50750	0.13226381	0.30803	0.2513995	0.50749	-9.309	0.69663	D	0.8870620821850869	0.94298	0.911	0.88761	P	.;.;.	.;.;.	3.974462	0.58384	24.0	0.99848876383869933	0.92838	0.42776	0.26953	N	AEFDBHCI	0.158032	0.28364	N	0.178266199014097	0.50157	3.20841	0.130553270547176	0.46120	2.863211	0.999999995887992	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.3	5.3	0.74745	1.651000	0.36918	10.949000	0.84388	0.735000	0.85950	0.794000	0.29644	1.000000	0.68203	0.716000	0.34643	1.0:0.0:0.0:0.0	11.672	0.50670	946	0.12043	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2791.98	38	chr8	144415265	.	A	G	2791.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.250e-01;DP=984;ExcessHet=0.0000;FS=2.920;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=0.316;SOR=0.519	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr8	144416027	144416027	G	A	exonic	SLC39A4	.	nonsynonymous SNV	SLC39A4:NM_017767:exon1:c.C182T:p.P61L	Acrodermatitis enteropathica, Autosomal recessive	YES	0	1468	50	4	0	58	0.0193721	.	.	304624	Hereditary_acrodermatitis_enteropathica|not_provided	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100,Orphanet:37|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.006	B	0.001	B	0.001	N	1.000	N	0.55	N	0.62	T	-1.031	T	0.058	T	0.092	2.014	12.69	-1.59	-0.305	-0.416	3.545	0.044	0.0449013786341	0.0016	0.000998403	0.0021	0.0009	0.0019	0.0004	0	0.0024	0.0079	0.0028	0.001313	203	154602	rs187080747	0.0014	0.0014	0.0012	0.0015	0.0371	0.0013	0.0013	0.0330	0.0315	0.0012	0.0013	0.0140	0.0003	4.448e-05	0.0371	0.0008	0.0030	0.0031	0.0011	0.0011	0.0011	0.0011	0.0014	0.0010	0.0009	0.0009	0.0008	0.0002	0	0.0014	0.0135	0.0004	0	0.0204	0.0011	0.0019	0.0010	0.032	0.44694	D	0.028	0.54934	D	0.002	0.09854	B	0.001	0.04355	B	0.000906	0.00708	N	3.794710	1	0.08975	N	1.32	0.33002	L	0.62	0.53302	T	-1.47	0.35991	N	0.089	0.15469	-1.0307	0.20227	T	0.058	0.24428	T	10	0.0048852265	0.00104	T	0.044901	0.61720	D	0.044	0.11924	.	.	0.300784259202	0.29686	0.4110761476787007	0.41023	0.130730633886	0.14752	0.433279931545	0.29657	T	0.046456	0.27431	T	-0.630726	0.00095	T	-0.682762	0.06816	T	0.00352813068109344	0.00037	T	0.580842	0.21027	T	0.03590363	0.04316	0.042633068	0.05121	0.034164343	0.03779	0.056370575	0.10059	-4.155	0.31869	T	.	.	0.119	0.24599	B	.;.	.;.	0.444568	0.08149	4.879	0.94716817475581216	0.25385	0.06751	0.12773	N	AEFBCI	0.096460	0.19473	N	-1.13734089852011	0.05990	0.2746098	-1.19798347222329	0.05943	0.2846568	0.999688670972249	0.41756	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.17	-1.59	0.08003	-1.747000	0.01926	-0.271000	0.10347	0.611000	0.49015	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0849:0.1347:0.3678:0.4126	3.545	0.07380	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1203.98	47	chr8	144416027	.	G	A	1203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=1026;ExcessHet=0.0000;FS=6.652;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=-6.930e-01;SOR=0.301	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1620	20	0	1	0
chr8	144436648	144436648	C	G	exonic	TONSL	.	nonsynonymous SNV	TONSL:NM_013432:exon16:c.G1924C:p.V642L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.012	B	0.006	B	0.011	N	0.773	D	1.04	L	0.95	T	-1.012	T	0.070	T	0.322	1.735	11.76	3.84	2.161	1.450	7.857	0.075	0.00690216641763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.06935	T	0.188	0.28669	T	0.012	0.16265	B	0.006	0.12133	B	0.011215	0.29618	N	0.323038	0.773298	0.34177	D	1.555	0.39373	L	0.95	0.43279	T	-0.75	0.21003	N	0.176	0.18920	-1.0124	0.26165	T	0.070	0.28412	T	10	0.099143386	0.17973	T	0.006902	0.18261	T	0.075	0.21907	0.632	0.76810	0.393471546983	0.38961	0.4338471866313662	0.43301	0.138131228328	0.15575	0.444238871336	0.31156	T	0.102352	0.40998	T	-0.174355	0.24579	T	-0.488225	0.23576	T	0.118895815995404	0.14322	T	.	.	.	0.13006118	0.30358	0.1190179	0.28728	0.13006118	0.30358	0.1190179	0.28727	-5.081	0.37706	T	0.4377886948190077	0.52384	0.166	0.36495	B	.	.	2.206659	0.28145	17.70	0.9824467059509201	0.39512	0.57958	0.30514	D	AEFDGBI	0.066676	0.13069	N	-0.236692221481222	0.31638	1.776051	-0.0688072968252069	0.36687	2.138279	0.998989704160399	0.38135	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.73	3.84	0.43422	0.415000	0.20901	2.201000	0.31287	0.599000	0.40250	0.088000	0.22533	1.000000	0.68203	0.995000	0.73285	0.0:0.8064:0.0:0.1936	7.857	0.28653	940	0.13648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1212.98	59	chr8	144436648	.	C	G	1212.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.861;DP=1247;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.05;ReadPosRankSum=-7.300e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:69,0:69:99:0,120,1800	20	0	1	0
chr8	144450527	144450527	C	G	exonic	CYHR1	.	nonsynonymous SNV	CYHR1:NM_001330618:exon4:c.G1067C:p.S356T	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.0	B	0.0	B	0.001	N	1.000	D	-0.14	N	.	.	-1.085	T	0.059	T	0.101	0.119	4.641	4.19	1.126	2.614	3.862	0.077	0.00352250527196	.	.	0.0001	0	0	0	0	0.0003	0	0	1.94e-05	3	154602	rs764303790	4.24e-05	3.817e-05	2.685e-05	5.567e-05	6.307e-06	2.867e-05	2.408e-05	1.05e-06	3.9e-07	0	0	0.0009	0	0	0	6.307e-06	9.746e-05	0	2.628e-05	2.626e-05	2.569e-05	2.689e-05	2.939e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0.0006	0	0	0	2.939e-05	0	0	0.553	0.07048	T	0.55	0.12456	T	0.0	0.02946	B	0.0	0.01387	B	0.001351	0.39310	N	0.325984	0.946553	0.26627	N	0.55	0.14455	N	.	.	.	-0.99	0.26843	N	0.046	0.08925	-1.0848	0.06444	T	0.059	0.24871	T	9	0.04472187	0.03460	T	0.003523	0.08000	T	0.077	0.22490	0.298	0.26362	0.324436698001	0.32047	0.7041996669998615	0.70361	0.0748791605397	0.08398	0.469364702702	0.34593	T	0.044816	0.26930	T	-0.220784	0.17887	T	-0.544099	0.17897	T	0.0424979359926537	0.04147	T	0.765923	0.39354	T	0.030150892	0.02628	0.039396044	0.04023	0.030150892	0.02628	0.039396044	0.04023	-3.703	0.19363	T	.	.	0.068	0.03301	B	.;.	.;.	2.754756	0.36121	20.2	0.72862670684545783	0.10122	0.83048	0.42199	D	AEFGBI	0.178423	0.30568	N	-0.515435315687882	0.21581	1.146338	-0.317175724003753	0.27544	1.529122	0.999804444972704	0.43304	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.21	4.19	0.48645	2.112000	0.41516	5.999000	0.52457	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.5435:0.0:0.4565	3.862	0.08506	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1198.98	36	chr8	144450527	.	C	G	1198.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=828;ExcessHet=0.0000;FS=8.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.29;ReadPosRankSum=-4.320e-01;SOR=1.472	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1143	20	0	1	0
chr8	144472854	144472854	G	A	exonic	KIFC2	.	nonsynonymous SNV	KIFC2:NM_001369769:exon17:c.G1921A:p.G641S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.096	B	0.033	B	.	.	1.000	N	2.49	M	-1.27	T	-0.930	T	0.141	T	0.262	2.043	12.79	0.122	0.101	0.923	2.843	0.064	0.389280760644	.	0.000399361	0.0004	0	0	0	0	0	0	0.0021	0.0001358	21	154602	rs542668383	8.102e-05	9.166e-05	5.978e-05	0.0001	0.0013	6.846e-05	6.43e-05	0.0011	0.0010	0	0	0	0	0	0.0002	3.665e-06	0.0001	0.0013	4.596e-05	4.593e-05	5.139e-05	4.027e-05	0.0008	2.108e-05	1.526e-05	0.0003	0.0002	0	0	0	0	0.0004	0	0	1.47e-05	0	0.0008	0.146	0.25055	T	0.108	0.37589	T	0.06	0.23119	B	0.009	0.14300	B	.	.	.	.	1	0.18198	N	2.89	0.83701	M	-1.27	0.79277	T	-2.53	0.54864	D	0.083	0.05929	-0.9303	0.44095	T	0.141	0.46128	T	9	0.0234088	0.00611	T	0.389281	0.93151	D	0.233	0.53499	0.536	0.64585	0.55999961142	0.55660	0.5149018154161938	0.51413	.	.	0.638537049294	0.58356	T	0.703755	0.91492	D	-0.36188	0.04024	T	-0.333125	0.41120	T	0.0723284362572781	0.08975	T	0.659934	0.26896	T	0.10966794	0.25928	0.12517025	0.30162	0.10966794	0.25927	0.12517025	0.30162	-4.636	0.32621	T	.	.	0.086	0.10691	B	.;.;.	.;.;.	0.754594	0.11243	7.873	0.97601388286324342	0.34853	0.02172	0.06367	N	AEFDBHCI	0.028906	0.02632	N	-0.483673325532116	0.22617	1.208836	-0.655190844887835	0.18086	0.9646084	0.99999999997827	0.74766	0.652421	0.48094	0	0.748881	0.99253	0	0.52208	0.10781	0	0.620976	0.48614	0	.	.	4.2	0.122	0.14005	-0.728000	0.05029	-0.067000	0.12346	-0.172000	0.11096	0.000000	0.06391	0.000000	0.08366	0.341000	0.25455	0.3517:0.0:0.4231:0.2252	2.843	0.05195	940	0.13648	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1585.98	35	chr8	144472854	.	G	A	1585.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.12;DP=882;ExcessHet=0.0000;FS=1.593;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.70;ReadPosRankSum=-2.201e+00;SOR=0.872	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	20	0	1	0
chr8	144500515	144500515	G	T	exonic	PPP1R16A	.	nonsynonymous SNV	PPP1R16A:NM_001329443:exon8:c.G734T:p.S245I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.021	B	0.063	B	0.121	N	0.606	N	-0.46	N	0.03	T	-0.956	T	0.097	T	0.275	2.899	15.66	4.16	2.393	1.137	9.606	0.137	0.129010088578	.	.	1.756e-05	0	0	0	0	0	0	9.239e-05	3.84e-05	1	26028	rs748372331	1.391e-06	2.736e-06	1.384e-06	1.398e-06	2.347e-05	2.3e-07	9e-08	3.9e-06	1.46e-06	0	0	0	0	0	0	0	0	2.347e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.36509	T	0.206	0.27056	T	0.021	0.18474	B	0.063	0.27082	B	0.121453	0.18995	N	0.549886	0.606125	0.30900	N	-0.425	0.02884	N	0.03	0.62183	T	1.87	0.00472	N	0.262	0.29659	-0.9560	0.39916	T	0.097	0.36496	T	10	0.084136665	0.14070	T	0.12901	0.81102	D	0.137	0.36984	0.472	0.54699	0.770552705467	0.76845	0.3889715717099215	0.38812	0.189103845684	0.21227	0.471642494202	0.34906	T	0.033195	0.22810	T	-0.10596	0.35438	T	-0.38998	0.34554	T	0.141822845055429	0.16431	T	0.749925	0.37107	T	0.10168453	0.24022	0.105996	0.25491	0.10168453	0.24022	0.105996	0.25490	-6.038	0.46596	T	.	.	0.124	0.26232	B	.;.	.;.	2.831111	0.37322	20.5	0.97985473586288008	0.37356	0.18729	0.20379	N	AEFDBCI	0.134094	0.25398	N	-0.528752192943163	0.21154	1.120614	-0.356734149614158	0.26302	1.451872	0.999999768532565	0.74766	0.72623	0.87236	0	0.643519	0.57511	0	0.594344	0.31042	0	0.604282	0.37693	0	.	.	5.13	4.16	0.48138	1.582000	0.36177	6.166000	0.54416	0.660000	0.55035	0.004000	0.16614	0.996000	0.32793	0.629000	0.32131	0.0:0.0:0.647:0.353	9.606	0.38797	912	0.21483	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2104.98	38	chr8	144500515	.	G	T	2104.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.420e-01;DP=813;ExcessHet=0.0000;FS=0.818;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.63;ReadPosRankSum=0.744;SOR=0.845	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1312	20	0	1	0
chr8	144504855	144504855	C	A	exonic	GPT	.	nonsynonymous SNV	GPT:NM_005309:exon3:c.C337A:p.Q113K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.89	T	0.01	B	0.029	B	0.000	D	0.999	D	0.57	N	-2.65	D	-0.286	T	0.505	D	0.366	-0.146	3.288	5.23	2.431	1.274	16.274	0.298	0.132441495477	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.802	0.03101	T	0.924	0.02835	T	0.002	0.09854	B	0.003	0.08700	B	0.000026	0.55875	D	0.121334	0.999135	0.46149	D	0.6	0.15550	N	-2.65	0.90210	D	-1.51	0.36787	N	0.285	0.32259	-0.2858	0.75382	T	0.505	0.81348	D	10	0.27959728	0.45532	T	0.132441	0.81477	D	0.298	0.61843	0.548	0.66296	0.793137472557	0.79121	0.7311917758941512	0.73064	0.0788859935082	0.08873	0.378213763237	0.22002	T	0.31397	0.68568	T	0.0264513	0.55249	T	-0.199781	0.54666	T	0.116260550916195	0.14060	T	0.933507	0.75104	D	0.31348538	0.54086	0.23046954	0.48150	0.31348538	0.54086	0.23046954	0.48149	-8.75	0.66073	D	.	.	0.081	0.08899	B	.;.	.;.	1.995351	0.25349	16.73	0.68749400932721505	0.08755	0.90181	0.51157	D	AEFDGBI	0.842724	0.75981	D	-0.40362839905532	0.25342	1.374951	-0.203747836662932	0.31402	1.776766	0.999999933215833	0.74766	0.580535	0.33130	0	0.550933	0.16991	0	0.514364	0.09456	0	0.604944	0.38103	0	.	.	5.23	5.23	0.72570	1.416000	0.34366	2.566000	0.33339	0.599000	0.40250	0.974000	0.34632	1.000000	0.68203	0.176000	0.21171	0.0:1.0:0.0:0.0	16.274	0.82459	900	0.24599	Aminotransferase, class I/classII;Aminotransferase, class I/classII	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2494.98	93	chr8	144504855	.	C	A	2494.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.063e+00;DP=2028;ExcessHet=0.0000;FS=1.252;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.59;ReadPosRankSum=0.747;SOR=0.566	GT:AD:DP:GQ:PL	0/0:122,0:122:99:0,120,1800	20	0	1	0
chr8	144511990	144511990	C	T	exonic	RECQL4	.	nonsynonymous SNV	RECQL4:NM_004260:exon19:c.G3314A:p.G1105D,	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	.	0	1463	53	6	0	65	0.0217319	.	.	138890	not_specified|Hereditary_cancer-predisposing_syndrome|not_provided|Baller-Gerold_syndrome	MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0046	0.00359425	0.0054	0.0009	0.0049	0	0.0009	0.0072	0.0078	0.0057	0.0046636	721	154602	rs36078464	0.0054	0.0054	0.0053	0.0056	0.0120	0.0053	0.0053	0.0097	0.0089	0.0008	0.0044	0.0059	0	0.0008	0.0120	0.0060	0.0056	0.0055	0.0038	0.0038	0.0041	0.0036	0.0059	0.0036	0.0035	0.0055	0.0053	0.0010	0	0.0050	0.0037	0	0.0008	0.0136	0.0059	0.0061	0.0048	.	.	.	0.552	0.18125	T	0.024	0.19075	B	0.028	0.21332	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.316	0.35620	.	.	.	.	.	.	.	0.00393191	0.00075	T	.	.	.	.	.	.	.	0.724635435794	0.72219	0.44854050858578554	0.44772	.	.	0.363676905632	0.19920	T	0.00702	0.17042	T	-0.294703	0.09170	T	-0.192929	0.55314	T	.	.	.	0.70353	0.31362	T	0.16268104	0.36360	0.17259818	0.39527	0.15574713	0.35184	0.1975136	0.43536	-5.937	0.45749	T	0.30497957848529705	0.40258	0.135	0.30791	B	.;.;.	.;.;.	1.028931	0.14089	10.66	0.75393395622667547	0.11058	0.35856	0.25399	N	AEFDGBHCI	0.092741	0.18772	N	.	.	.	.	.	.	0.999999938888088	0.74766	0.283894	0.04978	0	0.278934	0.05175	0	0.299256	0.05649	0	0.221052	0.04502	0	.	.	5.32	3.47	0.38831	0.183000	0.16729	0.890000	0.22465	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.7099:0.1938:0.0962	8.553	0.32628	900	0.24599	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.04762	2759.11	82	chr8	144511990	.	C	T	2759.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.472e+00;DP=1654;ExcessHet=0.1072;FS=0.548;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.00;ReadPosRankSum=1.42;SOR=0.620	GT:AD:DP:GQ:PL	0/0:83,0:83:99:0,120,1800	19	0	2	0
chr8	144512247	144512247	C	T	exonic	RECQL4	.	nonsynonymous SNV	RECQL4:NM_004260:exon18:c.G3133A:p.A1045T,	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	YES	0	1519	3	0	0	3	0.000986518	.	.	138887	Rothmund-Thomson_syndrome_type_2|not_provided|not_specified|Baller-Gerold_syndrome|RECQL4-related_disorder	MONDO:MONDO:0016369,MedGen:C5203410,OMIM:268400,Orphanet:221016|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0030	0.00399361	0.0012	0.0112	0.0007	0.0020	0	0.0002	0	6.074e-05	0.001216	188	154602	rs35348691	0.0005	0.0005	0.0005	0.0005	0.0106	0.0005	0.0004	0.0097	0.0094	0.0106	0.0014	0.0010	0.0010	0	0.0026	9.894e-05	0.0015	0.0001	0.0036	0.0036	0.0038	0.0035	0.0117	0.0034	0.0033	0.0109	0.0105	0.0117	0	0.0029	0.0012	0.0008	0	0	5.881e-05	0.0043	0.0002	.	.	.	0.52	0.38160	T	0.89	0.48942	P	0.261	0.39516	B	.	.	.	.	.	.	.	2.635	0.77114	M	.	.	.	.	.	.	0.097	0.12484	.	.	.	.	.	.	.	0.0045722723	0.00095	T	.	.	.	.	.	.	.	0.689604367157	0.68694	0.11929209556668262	0.11856	.	.	0.337042570114	0.15994	T	0.011554	0.25615	T	-0.371329	0.03527	T	-0.298203	0.44915	T	.	.	.	0.849515	0.53247	T	0.025144268	0.01419	0.0876284	0.20381	0.03714392	0.04707	0.08291603	0.18961	-4.918	0.35937	T	0.29070564616817923	0.38721	0.083	0.11510	B	.;.;.	.;.;.	1.006230	0.13851	10.40	0.72434867363369804	0.09972	0.46003	0.27663	N	AEFGBCI	0.118593	0.23183	N	.	.	.	.	.	.	0.99999935194341	0.74766	0.295142	0.05270	0	0.278934	0.05175	0	0.299256	0.05649	0	0.322829	0.05601	0	.	.	5.37	2.4	0.28568	0.075000	0.14547	0.862000	0.22237	-0.223000	0.07921	0.000000	0.06391	0.276000	0.24078	0.002000	0.04165	0.1635:0.52:0.3165:0.0	8.599	0.32896	900	0.24599	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	3301.98	116	chr8	144512247	.	C	T	3301.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.87;DP=2390;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.61;ReadPosRankSum=-8.440e-01;SOR=0.677	GT:AD:DP:GQ:PL	0/0:109,0:109:99:0,120,1800	20	0	1	0
chr8	144512966	144512966	G	T	exonic	RECQL4	.	nonsynonymous SNV	RECQL4:NM_004260:exon15:c.C2636A:p.P879H,	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	YES	0	1468	53	1	0	55	0.0183885	.	.	100790	not_provided|not_specified|Rothmund-Thomson_syndrome_type_2|Baller-Gerold_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0016369,MedGen:C5203410,OMIM:268400,Orphanet:221016|MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0064	0.00539137	0.0111	0.0069	0.0209	0	0.0009	0.0170	0.0317	0.0028	0.0056662	876	154602	rs137975310	0.0101	0.0100	0.0102	0.0099	0.0284	0.0099	0.0099	0.0248	0.0234	0.0048	0.0115	0.0130	0	0.0012	0.0284	0.0112	0.0114	0.0031	0.0089	0.0089	0.0093	0.0085	0.0157	0.0085	0.0083	0.0141	0.0134	0.0051	0.0307	0.0157	0.0144	0	0.0009	0.0306	0.0113	0.0137	0.0023	.	.	.	0.129	0.34837	T	0.39	0.34593	B	0.159	0.34693	B	.	.	.	.	.	.	.	1.525	0.38595	L	.	.	.	.	.	.	0.23	0.25867	.	.	.	.	.	.	.	0.004400462	0.00090	T	.	.	.	.	.	.	.	0.739007817583	0.73667	0.32707399421941546	0.32620	.	.	0.322193324566	0.13753	T	0.027492	0.33267	T	-0.418621	0.01746	T	-0.363709	0.37622	T	.	.	.	0.310069	0.06017	T	0.034189038	0.03789	0.0702438	0.14899	0.03304768	0.03447	0.070746265	0.15067	-4.697	0.33367	T	.	.	0.082	0.09143	B	.;.	.;.	-0.192825	0.03128	0.501	0.58722281192310632	0.06058	0.34935	0.25184	N	AEFGBCI	0.070053	0.13892	N	.	.	.	.	.	.	0.999998398723936	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.320204	0.05785	0	0.375513	0.06772	0	.	.	4.96	0.48	0.16014	0.280000	0.18550	0.457000	0.18579	-0.244000	0.07312	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.1883:0.1438:0.5207:0.1473	2.446	0.04231	900	0.24599	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1405.98	51	chr8	144512966	.	G	T	1405.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.010e-01;DP=1211;ExcessHet=0.0000;FS=4.576;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=0.174;SOR=1.139	GT:AD:DP:GQ:PL	0/0:66,0:66:99:0,99,1800	20	0	1	0
chr8	144516364	144516364	G	A	exonic	RECQL4	.	nonsynonymous SNV	RECQL4:NM_004260:exon5:c.C755T:p.P252L,	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	YES	0	1507	15	0	0	15	0.00495213	.	.	138904	Rothmund-Thomson_syndrome_type_2|not_specified|not_provided|Baller-Gerold_syndrome	MONDO:MONDO:0016369,MedGen:C5203410,OMIM:268400,Orphanet:221016|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0115815	0.0064	0	0.0002	0.0004	0	4.799e-05	0.0036	0.0452	0.0052781	816	154602	rs199773279	0.0025	0.0025	0.0014	0.0037	0.0400	0.0025	0.0024	0.0389	0.0384	2.987e-05	2.24e-05	0	0.0001	0	0.0017	4.768e-05	0.0032	0.0400	0.0014	0.0014	0.0007	0.0022	0.0435	0.0013	0.0012	0.0387	0.0368	4.81e-05	0	0	0	0.0004	0	0	5.88e-05	0	0.0435	.	.	.	0.281	0.21612	T	0.011	0.15914	B	0.009	0.14300	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.20925	.	.	.	.	.	.	.	0.005003482	0.00108	T	.	.	.	.	.	.	.	0.704728438482	0.70216	0.19770409038007036	0.19687	.	.	0.27358341217	0.06613	T	0.072523	0.34474	T	-0.384026	0.02938	T	-0.293703	0.45386	T	.	.	.	0.50325	0.15827	T	0.028072616	0.02090	0.060437925	0.11511	0.028262425	0.02136	0.058010142	0.10646	-4.036	0.24341	T	0.25009329278623943	0.33853	0.075	0.05404	B	.	.	0.771992	0.11419	8.029	0.73065840257512249	0.10194	0.08486	0.14409	N	AEFBHCI	0.080413	0.16259	N	.	.	.	.	.	.	0.999371142064224	0.39355	0.256867	0.04430	0	0.194	0.04241	0	0.320204	0.05785	0	0.186031	0.04203	0	.	.	5.04	-0.014	0.13306	0.618000	0.24068	1.953000	0.29896	-0.106000	0.15538	0.000000	0.06391	0.013000	0.20296	0.028000	0.12845	0.3206:0.1336:0.5458:0.0	5.574	0.16498	900	0.24599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1245.98	124	chr8	144516364	.	G	A	1245.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.30;DP=2320;ExcessHet=0.0000;FS=1.530;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=1.49;SOR=0.894	GT:AD:DP:GQ:PL	0/0:104,0:104:99:0,120,1800	20	0	1	0
chr8	144520987	144520987	C	T	exonic	LRRC14	.	nonsynonymous SNV	LRRC14:NM_014665:exon4:c.C991T:p.R331W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.956	P	0.401	B	0.031	N	1.000	N	0.145	N	0.84	T	-1.066	T	0.064	T	0.199	0.997	9.071	2.41	0.424	0.702	6.653	0.064	0.0224143336136	.	.	.	.	.	.	.	.	.	.	1.94e-05	3	154602	rs762276370	1.848e-05	1.915e-05	1.362e-05	2.339e-05	2.338e-05	1.266e-05	1.085e-05	1.627e-05	1.382e-05	0	0	0	0	0	0	2.338e-05	0	1.159e-05	3.285e-05	3.283e-05	3.853e-05	2.689e-05	0.0002	1.261e-05	7.98e-06	5.286e-05	2.835e-05	0	0	0.0002	0	0	0	0	2.939e-05	0	0	0.002	0.72154	D	0.001	0.83351	D	0.956	0.54666	P	0.401	0.44513	B	0.031158	0.25208	N	0.438834	1	0.08975	N	0.11	0.08516	N	0.84	0.47477	T	-3.03	0.62747	D	0.203	0.22998	-1.0658	0.10362	T	0.064	0.26420	T	10	0.24966082	0.42281	T	0.022414	0.45307	T	0.064	0.18567	.	.	0.707378670463	0.70482	0.3959449343704171	0.39509	0.829417687169	0.67559	0.289806127548	0.08894	T	0.298422	0.67098	T	-0.271582	0.11581	T	-0.531031	0.19184	T	0.832383692264557	0.48716	D	0.867613	0.56877	D	0.076699905	0.17364	0.08382401	0.19239	0.076699905	0.17363	0.08382401	0.19239	-5.769	0.44303	T	.	.	0.154	0.34992	B	.;.	.;.	2.880634	0.38118	20.7	0.9963226933895416	0.76142	0.20526	0.21074	N	AEFDGBCIJ	0.262085	0.37990	N	-0.576930602826678	0.19647	1.029891	-0.693261921929132	0.17129	0.9093933	0.999998451908138	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.26	2.41	0.28644	0.652000	0.24573	1.063000	0.23738	-0.314000	0.05961	0.001000	0.13787	0.000000	0.08366	0.399000	0.26759	0.1773:0.7251:0.0:0.0977	6.653	0.22162	880	0.29376	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2494.98	37	chr8	144520987	.	C	T	2494.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=978;ExcessHet=0.0000;FS=4.936;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.11;ReadPosRankSum=-1.080e+00;SOR=1.037	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr8	144524560	144524560	T	G	exonic	LRRC24	.	nonsynonymous SNV	LRRC24:NM_001024678:exon3:c.A319C:p.S107R,	.	.	444	1073	5	0	0	5	0.0023245	.	.	2343239	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.25	T	0.0	B	0.0	B	0.002	N	0.977	N	0.855	L	0.39	T	-1.053	T	0.087	T	0.135	1.918	12.37	1.55	0.518	0.016	5.812	0.062	0.0224828862843	.	0.000199681	0.0003	0	0.0007	0	0	0.0005	0	0	0.0001552	24	154602	rs201975035	0.0002	0.0002	0.0002	0.0002	0.0058	0.0002	0.0002	0.0042	0.0036	0.0004	0.0005	0	0	0	0.0058	0.0002	0.0006	5.997e-05	0.0005	0.0005	0.0006	0.0004	0.0004	0.0004	0.0004	0.0003	0.0002	0	0.0384	0.0003	0	0	0	0.0308	0.0004	0.0014	0	0.093	0.31532	T	0.155	0.31936	T	0.0	0.02946	B	0.0	0.01387	B	0.001538	0.38731	N	0.248368	0.976769	0.39305	D	0.56	0.15190	N	0.39	0.57419	T	-0.51	0.15986	N	0.154	0.17553	-1.0528	0.13628	T	0.087	0.33718	T	10	0.0072493255	0.00165	T	0.022483	0.45373	T	0.062	0.17934	0.384	0.40298	0.0934897674506	0.08844	0.6218062595576144	0.62113	0.364172412179	0.38030	0.65098708868	0.60125	T	0.005167	0.04614	T	-0.449089	0.01144	T	-0.548712	0.17449	T	0.0144326281079404	0.00291	T	0.615438	0.27458	T	0.03618842	0.04403	0.053887825	0.09165	0.03618842	0.04402	0.053887825	0.09164	-4.756	0.34074	T	.	.	0.231	0.46424	B	.;.	.;.	1.283922	0.16839	12.80	0.97669223099568125	0.35247	0.19356	0.20629	N	AEFDBHCI	0.124992	0.24131	N	-0.951628655298544	0.09656	0.4579557	-0.916212760439125	0.11712	0.5983369	0.999999928758471	0.74766	0.77792	0.99625	0	0.516746	0.08562	0	0.854111	0.99894	0	0.599892	0.37169	0	.	.	4.54	1.55	0.22356	-0.095000	0.11043	0.305000	0.17021	-0.218000	0.08083	0.000000	0.06391	0.011000	0.20116	0.900000	0.43643	0.0:0.612:0.1757:0.2123	5.812	0.17734	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	734.98	33	chr8	144524560	.	T	G	734.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.066e+00;DP=795;ExcessHet=0.0000;FS=4.124;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.70;ReadPosRankSum=0.684;SOR=0.283	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1105	20	0	1	0
chr8	144547972	144547972	C	G	exonic	ARHGAP39	.	nonsynonymous SNV	ARHGAP39:NM_025251:exon4:c.G1114C:p.V372L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.069	B	0.051	B	0.005	N	0.820	N	1.59	L	-0.2	T	-0.729	T	0.224	T	0.494	2.684	14.94	4.48	1.232	5.905	11.020	0.144	0.0410573399414	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1033008814	6.868e-07	6.84e-07	1.366e-06	0	2.993e-05	0	0	.	.	2.993e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.34800	T	0.54	0.09760	T	0.069	0.23796	B	0.051	0.25434	B	0.005226	0.32979	N	0.238434	0.819839	0.28896	N	2.045	0.56016	M	-0.2	0.70014	T	-0.7	0.20358	N	0.455	0.49237	-0.7285	0.59039	T	0.224	0.58856	T	10	0.23855534	0.40978	T	0.041057	0.59718	D	0.144	0.38394	0.172	0.07774	0.769326350214	0.76721	0.2295235665503005	0.22867	0.425626732373	0.42963	0.464285492897	0.33897	T	0.029812	0.21277	T	0.00590941	0.52466	T	-0.229288	0.51840	T	0.409848392009735	0.29312	T	0.939806	0.77272	D	0.07343526	0.16409	0.07749659	0.17268	0.07343526	0.16409	0.07749659	0.17267	-2.977	0.10486	T	.	.	0.172	0.37820	B	.;.	.;.	3.163431	0.42872	21.6	0.99130782291494313	0.53249	0.99075	0.90859	D	AEFGBI	0.775076	0.70860	D	0.0230256336539701	0.42902	2.593903	0.167061072345851	0.48054	3.02654	0.997591807087164	0.35797	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	5.37	4.48	0.53973	4.874000	0.62758	4.818000	0.45095	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.9066:0.0:0.0934	11.020	0.46932	879	0.29470	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1391.98	41	chr8	144547972	.	C	G	1391.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.120e-01;DP=909;ExcessHet=0.0000;FS=0.613;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.22;ReadPosRankSum=0.715;SOR=0.793	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr8	144548395	144548395	C	T	exonic	ARHGAP39	.	nonsynonymous SNV	ARHGAP39:NM_025251:exon4:c.G691A:p.G231S	.	.	421	1052	47	2	0	51	0.0236659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.894	P	0.438	B	0.014	N	0.552	D	1.245	L	1.95	T	-1.076	T	0.036	T	0.554	2.113	13.02	5.36	2.507	5.819	16.564	0.160	.	0.0044	0.00359425	0.0051	0.0007	0.0044	0	0.0009	0.0068	0.0077	0.0058	0.0046312	716	154602	rs117441152	0.0052	0.0052	0.0051	0.0053	0.0102	0.0051	0.0050	0.0082	0.0074	0.0007	0.0043	0.0068	0	0.0008	0.0102	0.0057	0.0054	0.0052	0.0037	0.0037	0.0039	0.0034	0.0056	0.0034	0.0033	0.0051	0.0050	0.0009	0	0.0049	0.0052	0	0.0008	0.0102	0.0056	0.0052	0.0043	0.155	0.24183	T	0.158	0.31629	T	0.894	0.49185	P	0.438	0.45631	B	0.013757	0.28743	N	0.387071	0.551795	0.32139	D	1.59	0.40313	L	1.95	0.22474	T	-0.78	0.22727	N	0.444	0.48227	-1.0756	0.08225	T	0.036	0.15553	T	10	0.0073208213	0.00166	T	.	.	.	0.160	0.41473	.	.	0.444907495582	0.44111	0.4106961497537202	0.40985	1.01720932989	0.74987	0.536832273006	0.43999	T	0.018792	0.15087	T	-0.414179	0.01865	T	-0.364826	0.37492	T	0.00917352442878759	0.00116	T	0.818018	0.47523	T	0.10252791	0.24229	0.11431584	0.27593	0.10252791	0.24228	0.11431584	0.27592	-4.24	0.27327	T	.	.	0.087	0.11269	B	.;.	.;.	3.182973	0.43212	21.7	0.99535120560583046	0.70150	0.98571	0.84224	D	AEFDGBI	0.810333	0.73360	D	0.118872725980105	0.47343	2.961376	0.186487857527048	0.49107	3.117856	0.999998415264145	0.74766	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.36	5.36	0.76624	4.781000	0.62082	3.937000	0.40576	0.596000	0.33519	1.000000	0.71638	0.999000	0.35428	0.099000	0.18236	0.0:1.0:0.0:0.0	16.564	0.84424	879	0.29470	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2413.11	41	chr8	144548395	.	C	T	2413.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-7.200e-01;DP=955;ExcessHet=0.1072;FS=4.386;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.18;ReadPosRankSum=1.52;SOR=0.590	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	19	0	2	0
chr8	144807638	144807638	C	G	exonic	ZNF517	.	nonsynonymous SNV	ZNF517:NM_001317936:exon5:c.C701G:p.A234G	.	.	429	1069	24	0	0	24	0.0111008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.026	B	0.026	B	.	.	1.000	N	-0.55	N	2.13	T	-1.029	T	0.034	T	0.157	2.998	16.00	2.7	1.508	-0.651	8.639	0.033	0.00084795732836	0.0003	0.000399361	0.0017	0	0.0006	0.0002	0.0003	0.0005	0.0059	0.0085	0.0010996	170	154602	rs145328614	0.0008	0.0008	0.0005	0.0011	0.0087	0.0008	0.0008	0.0076	0.0074	8.975e-05	0.0002	0.0015	2.524e-05	5.889e-05	0.0087	0.0003	0.0010	0.0081	0.0005	0.0005	0.0004	0.0007	0.0075	0.0004	0.0004	0.0055	0.0049	2.406e-05	0	0.0001	0.0006	0	9.418e-05	0.0068	0.0005	0.0005	0.0075	0.093	0.31532	T	0.035	0.52389	D	0.026	0.19406	B	0.026	0.20792	B	.	.	.	.	1	0.81001	D	-0.44	0.02835	N	2.13	0.19588	T	-2.48	0.54059	N	0.083	0.08088	-1.0289	0.20811	T	0.034	0.14552	T	9	0.005225897	0.00114	T	8.48E-4	0.00734	T	0.033	0.08068	.	.	0.0954503805726	0.09146	0.02932518378202898	0.02881	0.278568782868	0.30341	0.395311534405	0.24415	T	0.020404	0.16069	T	-0.57809	0.00198	T	-0.598737	0.12917	T	0.0217084522860914	0.00877	T	0.320768	0.06490	T	0.15683421	0.35371	0.16436942	0.38081	0.15683421	0.35371	0.16436942	0.38080	-5.478	0.41662	T	.	.	0.138	0.30211	B	.;.	.;.	2.431960	0.31291	18.70	0.99483157296345304	0.67014	0.01006	0.03801	N	AEFDBI	0.030302	0.03023	N	-0.464442923937653	0.23253	1.247385	-0.44975781783289	0.23556	1.285203	0.887889848489239	0.25776	0.718356	0.82227	0	0.577304	0.33150	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	2.7	2.7	0.31007	-0.193000	0.09572	-1.722000	0.04847	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.884000	0.42379	0.0:0.5886:0.4114:0.0	8.639	0.33126	680	0.59965	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1517.98	33	chr8	144807638	.	C	G	1517.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=928;ExcessHet=0.0000;FS=2.172;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=-4.600e-02;SOR=0.906	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1138	20	0	1	0
chr8	144807888	144807888	G	T	exonic	ZNF517	.	nonsynonymous SNV	ZNF517:NM_001317936:exon5:c.G951T:p.Q317H	.	.	419	1060	41	2	0	45	0.0207852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.977	D	0.721	P	.	.	1.000	N	0.515	N	0.68	T	-1.038	T	0.051	T	0.199	2.620	14.72	1.92	1.581	0.263	4.035	0.009	.	0.0004	0.000599042	0.0029	0	0.0028	0.0002	0	0.0015	0.0026	0.0170	0.0015653	242	154602	rs142358445	0.0012	0.0012	0.0008	0.0015	0.0106	0.0011	0.0011	0.0099	0.0097	9.43e-05	0.0013	0.0036	2.566e-05	4.283e-05	0.0106	0.0005	0.0018	0.0105	0.0008	0.0009	0.0007	0.0010	0.0099	0.0007	0.0007	0.0077	0.0069	0.0001	0	0.0016	0.0017	0	9.413e-05	0.0068	0.0005	0.0024	0.0099	0.002	0.72154	D	0.001	0.83351	D	0.977	0.58535	D	0.721	0.54900	P	.	.	.	.	1	0.08975	N	1.165	0.29723	L	0.68	0.51952	T	-2.4	0.52776	N	0.093	0.07949	-1.0384	0.17802	T	0.051	0.21650	T	9	0.004741341	0.00100	T	.	.	.	0.094	0.27141	0.582	0.70861	0.391000631824	0.38715	0.20662803744608674	0.20578	0.546712786564	0.51655	0.457841545343	0.33015	T	0.073538	0.34722	T	-0.487576	0.00670	T	-0.463751	0.26193	T	0.0529239228263996	0.06006	T	0.917708	0.70434	D	0.18125005	0.39286	0.16418901	0.38047	0.18125005	0.39286	0.16418901	0.38046	-5.988	0.46179	T	.	.	0.505	0.64821	A	.;.	.;.	1.969233	0.25016	16.61	0.99102405723314768	0.52496	0.10551	0.16026	N	AEFGBI	0.043680	0.06934	N	-0.588855039103326	0.19282	1.007933	-0.714412742383216	0.16602	0.8790396	0.31948129485906	0.19369	0.695654	0.57023	0	0.379588	0.06130	0	0.723109	0.80598	0	0.491896	0.07777	0	.	.	2.83	1.92	0.24912	0.966000	0.28929	1.373000	0.25972	0.670000	0.69193	0.032000	0.20554	0.038000	0.21505	0.122000	0.19250	0.2894:0.0:0.7106:0.0	4.035	0.09211	675	0.60470	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1477.98	33	chr8	144807888	.	G	T	1477.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.400e-01;DP=959;ExcessHet=0.0000;FS=2.245;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.64;ReadPosRankSum=1.28;SOR=0.519	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1138	20	0	1	0
chr8	144846102	144846102	C	T	exonic	ZNF7	.	nonsynonymous SNV	ZNF7:NM_001282796:exon5:c.C371T:p.S124L	.	.	418	1097	6	1	0	8	0.00363306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.223	B	0.003	B	.	.	1.000	N	.	.	5.64	T	-0.943	T	0.001	T	0.076	0.674	7.609	-2.35	-1.224	-0.385	0.199	0.078	0.00344693913937	.	0.00179712	0.0032	0	0	0	0	0	0	0.0062	0.000401	62	154602	rs377425729	0.0005	0.0005	0.0003	0.0007	0.0077	0.0005	0.0004	0.0072	0.0070	0.0004	0	0	0	0	0	1.483e-05	0.0005	0.0077	0.0004	0.0004	0.0003	0.0005	0.0091	0.0003	0.0003	0.0070	0.0062	0.0004	0	0	0	0	0	0	0	0	0.0091	0.431	0.17069	T	0.155	0.31936	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-1.17	0.29933	N	0.21	0.27435	-0.9430	0.42137	T	0.001	0.00438	T	8	0.0038035214	0.00071	T	0.003447	0.07786	T	0.078	0.22779	0.252	0.19067	0.230578612272	0.22657	.	.	.	.	.	.	.	0.011662	0.10375	T	-0.708389	0.00033	T	-0.785482	0.02292	T	0.00609401466278623	0.00067	T	0.558744	0.19484	T	.	.	.	.	.	.	.	.	-3.337	0.14219	T	.	.	0.133	0.29860	B	.;.	.;.	0.032812	0.04515	1.215	0.86244381660808489	0.16407	0.00527	0.02446	N	AEFDBHI	0.028466	0.02513	N	-1.42668104618604	0.02406	0.1062217	-1.5882582289623	0.01727	0.07850494	0.999999613326658	0.74766	0.475973	0.10046	0	0.379588	0.06130	0	0.670488	0.60580	0	0.491896	0.07777	0	.	.	1.18	-2.35	0.06302	-0.108000	0.10827	-3.779000	0.02542	-0.278000	0.06506	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2088:0.2408:0.2081:0.3423	0.199	0.00133	764	0.49969	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3431.11	35	chr8	144846102	.	C	T	3431.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.46;DP=909;ExcessHet=0.1072;FS=6.023;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.00;ReadPosRankSum=1.25;SOR=0.644	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1344	19	0	2	0
chr8	144889653	144889653	G	A	exonic	ZNF250	.	stopgain	ZNF250:NM_001109689:exon4:c.C211T:p.R71X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	.	.	.	.	0.009	N	1.000	A	.	.	.	.	.	.	.	.	.	3.338	17.24	2.16	1.070	1.293	12.033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.009500	0.30337	N	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.175	0.19325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.549544	0.95746	D	0.551606	0.95683	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.;.;.	High;.;.;.;.	7.613155	0.96692	36	0.99603368106970414	0.74338	0.41268	0.26620	N	AEFDGBI	0.091771	0.18586	N	0.525085049349278	0.68576	5.236473	0.262412335998258	0.53358	3.50522	0.131927352088035	0.17107	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.18	2.16	0.26663	0.624000	0.24156	2.573000	0.33375	0.596000	0.33519	0.002000	0.15269	0.987000	0.30940	0.905000	0.44082	0.0:0.0:0.6935:0.3065	12.033	0.52701	710	0.56735	Krueppel-associated box|Krueppel-associated box;.;Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1200.98	34	chr8	144889653	.	G	A	1200.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.370e-01;DP=788;ExcessHet=0.0000;FS=6.601;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=0.250;SOR=0.383	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1480	20	0	1	0
chr8	144932073	144932073	C	A	exonic	ZNF16	.	nonsynonymous SNV	ZNF16:NM_006958:exon3:c.G714T:p.M238I	.	.	405	1115	2	0	0	2	0.000896057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.0	B	0.001	B	.	.	1.000	N	-0.4	N	2.52	T	-0.957	T	0.014	T	0.035	-0.537	1.562	1.84	0.231	-4.789	3.647	0.014	.	7.7e-05	0.0061901	0.0029	9.649e-05	8.637e-05	0	0	0	0.0022	0.0213	0.0025744	398	154602	rs144042148	0.0013	0.0013	0.0008	0.0019	0.0214	0.0013	0.0013	0.0206	0.0203	8.961e-05	0	0	5.038e-05	0	0.0005	3.597e-06	0.0014	0.0214	0.0008	0.0008	0.0004	0.0011	0.0238	0.0006	0.0006	0.0203	0.0190	2.406e-05	0	0	0	0	0	0	0	0	0.0238	0.189	0.21224	T	0.103	0.38305	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.99	0.01185	N	2.52	0.14160	T	-0.87	0.23590	N	0.041	0.01421	-0.9566	0.39807	T	0.014	0.05369	T	9	0.0029988587	0.00049	T	.	.	.	0.014	0.01968	0.234	0.16305	0.0954503805726	0.09146	0.030133323168473763	0.02962	0.0808181944237	0.09095	0.260634034872	0.04966	T	0.007254	0.06665	T	-0.773925	0.00012	T	-0.867546	0.00766	T	0.00769874969371873	0.00090	T	0.461354	0.13375	T	0.0736812	0.16482	0.076074906	0.16811	0.0736812	0.16482	0.076074906	0.16811	-2.556	0.06176	T	.	.	0.130	0.27821	B	.;.;.	.;.;.	-0.268374	0.02760	0.371	0.59467121481041241	0.06231	0.04225	0.09743	N	AEFDBHI	0.051139	0.09005	N	-1.23749550748239	0.04467	0.2016678	-1.22526692005899	0.05506	0.2625501	0.0618413866650007	0.15244	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.674467	0.66132	0	.	.	4.01	1.84	0.24348	-2.955000	0.00741	-1.298000	0.05782	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.817000	0.38496	0.0:0.1804:0.4786:0.341	3.647	0.07728	774	0.48577	Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2088.98	42	chr8	144932073	.	C	A	2088.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=950;ExcessHet=0.0000;FS=0.608;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.02;ReadPosRankSum=-1.109e+00;SOR=0.610	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,105,1575	20	0	1	0
chr8	144932518	144932518	G	T	exonic	ZNF16	.	nonsynonymous SNV	ZNF16:NM_006958:exon3:c.C269A:p.A90E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.002	B	.	.	1.000	N	0	N	4.77	T	-1.007	T	0.039	T	0.277	-1.340	0.030	-2.5	-0.154	-0.524	0.105	0.133	0.00125334710863	.	.	9.081e-05	0	0	0.0003	0	0.0001	0	6.07e-05	7.76e-05	12	154602	rs767098172	5.472e-05	5.472e-05	5.445e-05	5.5e-05	0.0002	4.477e-05	4.147e-05	0.0001	8.775e-05	0	0	0	0.0002	0	0.0002	5.665e-05	1.656e-05	6.956e-05	5.256e-05	5.253e-05	5.138e-05	5.38e-05	0.0004	2.557e-05	1.83e-05	7.299e-05	3.032e-05	0	0	6.544e-05	0	0	0	0	7.349e-05	0	0.0004	1.0	0.27544	T	1.0	0.01155	T	0.002	0.09854	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	3.16	0.50459	T	0.09	0.56945	N	0.126	0.12484	-1.0069	0.27881	T	0.039	0.16634	T	9	0.026155263	0.00789	T	0.001253	0.01683	T	0.133	0.36157	0.33	0.31519	0.0986583533028	0.09354	0.03691962009681974	0.03638	0.0848295226273	0.09583	0.258186757565	0.04677	T	0.001365	0.00832	T	-0.413686	0.01879	T	-0.539859	0.18310	T	0.0135514783243321	0.00249	T	0.128287	0.13351	T	0.0744182	0.16699	0.08126513	0.18454	0.0744182	0.16699	0.08126513	0.18454	-2.231	0.04194	T	.	.	0.088	0.30555	B	.;.;.;.;.	.;.;.;.;.	-0.068594	0.03831	0.821	0.20694797771256412	0.00755	0.03939	0.09336	N	AEFDGBI	0.041532	0.06327	N	-1.28325630360223	0.03876	0.1739792	-1.27299471794795	0.04799	0.2272319	0.343129968308414	0.19604	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	4.24	-2.5	0.06015	-0.965000	0.03939	-0.051000	0.12545	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.528000	0.29660	0.2704:0.2438:0.2215:0.2643	0.105	0.00047	774	0.48577	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1247.98	42	chr8	144932518	.	G	T	1247.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.431e+00;DP=868;ExcessHet=0.0000;FS=4.702;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.82;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-1.490e-01;SOR=0.666	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,105,1575	20	0	1	0
chr8	145052614	145052614	C	T	exonic	C8orf33	.	nonsynonymous SNV	C8orf33:NM_023080:exon2:c.C35T:p.A12V,	.	.	424	1086	11	1	0	13	0.00594966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.876	P	0.228	B	0.831	N	1.000	N	1.1	L	.	.	-1.067	T	0.048	T	0.208	2.810	15.36	2.96	1.944	0.523	9.639	0.065	0.00538928990046	0.0042	0.00199681	0.0033	0.0015	0.0021	0	0.0008	0.0050	0.0067	0.0010	0.0036222	560	154602	rs139779460	0.0050	0.0050	0.0053	0.0048	0.0061	0.0050	0.0049	0.0060	0.0060	0.0010	0.0021	0.0008	0	0.0005	0.0049	0.0061	0.0040	0.0010	0.0041	0.0041	0.0043	0.0038	0.0066	0.0038	0.0037	0.0061	0.0059	0.0013	0.0318	0.0044	0.0009	0	0.0005	0.0034	0.0066	0.0052	0.0002	0.084	0.32929	T	0.081	0.41742	T	0.876	0.48154	P	0.228	0.38116	B	0.831427	0.06944	N	1.091110	1	0.08975	N	0.55	0.14455	N	.	.	.	-0.74	0.20791	N	0.174	0.18649	-1.0667	0.10154	T	0.048	0.20592	T	8	0.004831791	0.00103	T	0.005389	0.13832	T	0.065	0.18881	.	.	0.310458034454	0.30648	0.10186366714440222	0.10117	0.141135838757	0.15921	.	.	.	0.006708	0.06137	T	-0.516198	0.00463	T	-0.507294	0.21594	T	0.00808730620811138	0.00096	T	0.431557	0.11736	T	0.02578641	0.01557	0.039426427	0.04033	0.02578641	0.01556	0.039426427	0.04033	-4.959	0.36392	T	.	.	0.121	0.30049	B	.;.;.;.;.	.;.;.;.;.	1.373501	0.17837	13.40	0.9931574992878992	0.59166	0.02772	0.07472	N	AEFDGBHI	0.043075	0.06765	N	-0.457987539710402	0.23471	1.260589	-0.594552627309294	0.19634	1.054325	0.999999999999856	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.372554	0.06265	0	.	.	2.96	2.96	0.33383	-0.075000	0.11392	1.207000	0.24879	-0.200000	0.08971	0.002000	0.15269	0.003000	0.18671	0.003000	0.05239	0.0:1.0:0.0:0.0	9.639	0.38990	531	0.73574	.;.;.;.;.	.	.	.	.	rs139779460	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1528.98	38	chr8	145052614	.	C	T	1528.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.670e-01;DP=838;ExcessHet=0.0000;FS=1.509;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=0.219;SOR=0.878	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1311	20	0	1	0
chr9	117371	117371	C	0	exonic	FOXD4	.	.	.	.	.	494	340	430	130	128	818	0.50365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	10566.34	45	chr9	117371	.	C	G,*	10566.34	.	AC=21,5;AF=0.500,0.119;AN=42;BaseQRankSum=1.69;DP=683;ExcessHet=1.5101;FS=0.547;InbreedingCoeff=-0.0096;MLEAC=21,5;MLEAF=0.500,0.119;MQ=45.38;MQRankSum=-4.449e+00;QD=18.70;ReadPosRankSum=-5.950e-01;SOR=0.750	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:9,10,0:19:99:.:.:288,0,270,315,300,615	3	5	9	0
chr9	117475	117475	G	C	exonic	FOXD4	.	nonsynonymous SNV	FOXD4:NM_207305:exon1:c.C645G:p.F215L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.924	P	0.827	P	.	.	1.000	N	1.04	L	-3.51	D	0.067	D	0.772	D	0.07	3.609	18.37	2.08	1.155	-1.101	9.342	0.286	0.16587999655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.574e-06	6.567e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	0.023	0.48186	D	0.812	0.03921	T	0.924	0.51285	P	0.827	0.59428	P	.	.	.	.	0.999896	0.19781	N	1.585	0.39878	L	-3.51	0.94693	D	-2.43	0.53258	N	0.038	0.01203	0.067	0.83568	D	0.772	0.92259	D	9	0.20349959	0.36508	T	0.16588	0.84463	D	0.286	0.60456	0.327	0.31034	0.716668160974	0.71417	0.16385004026512767	0.16305	.	.	0.789456069469	0.80359	T	0.002228	0.01623	T	-0.0542035	0.43806	T	-0.315636	0.43052	T	0.662082604887371	0.38987	D	0.39616	0.09972	T	0.15671062	0.35351	0.23206285	0.48356	0.15671062	0.35350	0.23206285	0.48355	-1.848	0.02656	T	.	.	0.628	0.70024	P	.	.	2.060003	0.26190	17.03	0.99597868395403555	0.74042	0.03640	0.08888	N	AEFBI	0.092972	0.18816	N	-0.423810767874598	0.24638	1.331687	-0.585282516879468	0.19877	1.068411	0.0634343615361828	0.15295	0.59774	0.34471	0	0.596491	0.49125	0	0.608004	0.38603	0	0.530356	0.10902	0	.	.	2.08	2.08	0.26079	0.031000	0.13598	0.559000	0.19493	0.489000	0.22316	0.007000	0.17678	0.164000	0.23286	0.381000	0.26357	0.0:0.0:1.0:0.0	9.342	0.37247	940	0.13648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	910.98	40	chr9	117475	.	G	C	910.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.028e+00;DP=961;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.44;MQRankSum=-1.230e+00;QD=14.02;ReadPosRankSum=-2.730e-01;SOR=0.828	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1224	20	0	1	0
chr9	121567	121567	T	A	exonic	CBWD1	.	nonsynonymous SNV	CBWD1:NM_001145356:exon14:c.A1031T:p.N344I	.	.	603	913	6	0	0	6	0.00327511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.972	D	0.886	P	0.000	D	1.000	D	3.005	M	2.11	T	-0.857	T	0.135	T	0.559	2.906	15.68	3.08	1.415	5.578	9.583	0.258	.	.	0.0159744	0.0098	0.0011	0.0550	0.0391	0.0079	0.0016	0.0067	0.0018	0.0009573	148	154602	rs141981893	0.0030	0.0031	0.0032	0.0027	0.0425	0.0029	0.0028	0.0409	0.0403	0.0004	0.0425	0.0009	0.0346	0.0061	0.0005	0.0003	0.0039	0.0019	0.0040	0.0042	0.0033	0.0048	0.0371	0.0038	0.0037	0.0328	0.0312	0.0008	0	0.0170	0.0017	0.0371	0.0067	0	0.0003	0.0033	0.0040	0.004	0.65419	D	0.076	0.51421	T	0.972	0.57405	D	0.885	0.62898	P	0.000000	0.84330	D	0.050232	1	0.81001	D	3.455	0.92281	M	2.11	0.19860	T	-5.01	0.82450	D	0.565	0.74280	-0.8565	0.51513	T	0.135	0.45029	T	10	0.009170234	0.00207	T	.	.	.	0.258	0.56959	.	.	0.526174771278	0.52262	0.062268376364465076	0.06166	.	.	0.564214527607	0.47861	T	0.094891	0.70642	T	-0.373797	0.03406	T	-0.283947	0.46399	T	0.043995979828565	0.04419	T	0.965703	0.92384	D	0.67332125	0.76611	0.47839704	0.69785	0.67332125	0.76612	0.47839704	0.69785	-8.873	0.69632	D	.	.	0.388	0.63071	A	.;.;.;.;.	.;.;.;.;.	4.527752	0.71055	25.6	0.99211622578463909	0.55594	0.96159	0.67803	D	AEFI	0.757345	0.69633	D	0.520339410941653	0.68294	5.19737	0.389247430327605	0.60902	4.283128	0.00361152661445483	0.10202	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	3.08	3.08	0.34576	4.571000	0.60593	7.810000	0.69404	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.0:0.0:1.0	9.583	0.38666	934	0.15400	Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal;Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal;.;Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1540.98	34	chr9	121567	.	T	A	1540.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.421e+00;DP=820;ExcessHet=0.0000;FS=2.139;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.48;MQRankSum=0.321;QD=10.55;ReadPosRankSum=-1.076e+00;SOR=0.524	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1272	20	0	1	0
chr9	376220	376220	T	C	exonic	DOCK8	.	nonsynonymous SNV	DOCK8:NM_001190458:exon18:c.T1916C:p.L639S	Hyper-IgE recurrent infection syndrome, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.002	B	0.009	B	0.662	N	1.000	N	0.895	L	2.57	T	-0.966	T	0.027	T	0.105	2.054	12.83	2.15	0.976	0.026	3.925	0.048	0.00933140909121	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.736	0.91255	T	0.174	0.30045	T	0.002	0.09854	B	0.006	0.14300	B	0.662101	0.05986	N	1.163400	1	0.08975	N	1.06	0.26948	L	1.64	0.27822	T	0.8	0.80340	N	0.122	0.14196	-0.9658	0.38053	T	0.027	0.11397	T	10	0.044857055	0.03490	T	0.009331	0.24483	T	0.048	0.13305	0.41	0.44559	0.163833314356	0.15978	0.2176655491104972	0.21682	0.0539975230124	0.05968	0.320022284985	0.13425	T	0.140199	0.47462	T	-0.235782	0.15892	T	-0.576461	0.14863	T	0.400921046733856	0.28976	T	0.70223	0.31478	T	0.061121058	0.12621	0.07885388	0.17700	0.061121058	0.12621	0.07885388	0.17700	-4.114	0.25658	T	0.08683673896985677	0.05039	0.076	0.13969	B	.;.;.;.;.	.;.;.;.;.	1.417218	0.18337	13.68	0.99153989874401915	0.53903	0.07231	0.13255	N	AEFDBHCI	0.063051	0.12159	N	-0.696493296025553	0.16122	0.8185776	-0.58113783801355	0.19985	1.074729	0.986579321725142	0.31087	0.732398	0.92422	0	0.743671	0.97443	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.66	2.15	0.26590	0.201000	0.17074	0.801000	0.21659	0.665000	0.62972	0.000000	0.06391	0.073000	0.22253	0.993000	0.69303	0.0:0.298:0.1858:0.5163	3.925	0.08759	807	0.43470	DHR-1 domain|DHR-1 domain|Dedicator of cytokinesis C, C2 domain;.;.;.;DHR-1 domain|DHR-1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	986.98	37	chr9	376220	.	T	C	986.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.93;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.97;ReadPosRankSum=-2.419e+00;SOR=0.695	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr9	418152	418152	C	T	exonic	DOCK8	.	nonsynonymous SNV	DOCK8:NM_001190458:exon28:c.C3485T:p.A1162V	Hyper-IgE recurrent infection syndrome, autosomal recessive, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	638353	not_provided|Combined_immunodeficiency_due_to_DOCK8_deficiency	MedGen:C3661900|MONDO:MONDO:0009478,MedGen:C4722305,OMIM:243700,Orphanet:217390	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.899	P	0.607	P	0.000	D	1.000	D	2.425	M	1.64	T	-0.919	T	0.157	T	0.822	4.604	25.1	5.92	2.822	6.123	20.334	0.248	0.0424120770869	7.7e-05	0.000399361	9.884e-05	0.0003	0	0	0	0	0	0.0005	9.06e-05	14	154602	rs376233983	3.283e-05	3.283e-05	1.497e-05	5.088e-05	0.0005	2.543e-05	2.249e-05	0.0003	0.0003	0.0001	0	0	0	0	0	0	4.967e-05	0.0005	5.253e-05	5.25e-05	2.57e-05	8.059e-05	0.0004	2.556e-05	1.829e-05	7.29e-05	4.291e-05	0.0001	0	0	0	0	0	0	0	0	0.0004	0.073	0.58626	T	0.02	0.61642	D	0.899	0.49514	P	0.607	0.51000	P	0.000001	0.84330	D	0.093635	1	0.81001	D	3.085	0.87354	M	1.64	0.27822	T	-3.42	0.67241	D	0.772	0.76946	-0.9193	0.45648	T	0.157	0.48858	T	10	0.36541855	0.53061	T	0.042412	0.60452	D	0.248	0.55615	.	.	0.332646915603	0.32870	0.6262383292892855	0.62556	0.289057747016	0.31311	0.718780338764	0.69868	T	0.530352	0.83737	D	-0.0971682	0.36893	T	-0.0493915	0.67064	D	0.422997027635574	0.29801	T	0.987201	0.96130	D	0.35420957	0.57393	0.325366	0.58453	0.35420957	0.57393	0.325366	0.58452	-7.157	0.55273	T	0.3292036972313812	0.42725	0.195	0.56619	B	.;.;.;.	.;.;.;.	4.562194	0.71907	25.7	0.9989020526622131	0.96436	0.98768	0.86602	D	AEFBI	0.718103	0.66940	D	0.663317268473858	0.77232	6.635503	0.70570634190699	0.82814	7.860739	0.99999999999685	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.92	5.92	0.95557	6.394000	0.73153	5.894000	0.50799	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	20.334	0.98733	834	0.38640	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.04762	2970.08	99	chr9	418152	.	C	T	2970.08	.	AC=2;AF=0.048;AN=42;DP=801;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.00;SOR=0.888	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1211	20	1	0	0
chr9	712444	712444	G	A	exonic	KANK1	.	nonsynonymous SNV	KANK1:NM_001354335:exon2:c.G1204A:p.V402I	Cerebral palsy, spastic quadriplegic, 2	.	0	1521	1	0	0	1	0.000328623	.	.	1869793	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.313	B	0.054	B	0.762	N	0.986	N	1.845	L	-1.94	D	-0.591	T	0.465	T	0.073	-0.590	1.356	2.91	0.340	1.263	8.231	0.127	0.0401753320226	0.0002	.	2.471e-05	9.625e-05	8.637e-05	0	0	1.499e-05	0	0	1.94e-05	3	154602	rs138599856	2.189e-05	2.189e-05	2.314e-05	2.063e-05	0.0002	1.584e-05	1.356e-05	0.0001	7.816e-05	0.0001	0.0002	0	0	3.744e-05	0	8.093e-06	4.967e-05	4.637e-05	0.0002	0.0002	0.0001	0.0003	0.0011	0.0002	0.0001	0.0007	0.0006	0.0003	0	0.0011	0	0	0	0	0	0	0.0002	0.055	0.46513	T	0.19	0.30729	T	0.313	0.32852	B	0.054	0.25828	B	0.762495	0.09612	N	0.876074	1	0.08975	N	2.255	0.64187	M	-1.94	0.84919	D	-0.5	0.15782	N	0.204	0.22614	-0.5906	0.65197	T	0.465	0.79317	T	10	0.051202506	0.04966	T	0.040175	0.59230	D	0.127	0.34888	.	.	0.126345400529	0.12197	0.07322090697520248	0.07259	.	.	0.207075476646	0.00693	T	0.11026	0.42481	T	-0.319701	0.06922	T	-0.412292	0.31961	T	0.0180965946550711	0.00532	T	0.542646	0.18460	T	0.032404486	0.03259	0.044142522	0.05652	0.032404486	0.03258	0.044142522	0.05651	-4.783	0.34392	T	0.6747301572803015	0.75025	0.087	0.14385	B	.;.;.;.	.;.;.;.	0.173187	0.05618	2.071	0.85897417389652542	0.16182	0.38405	0.25981	N	AEFBCI	0.215418	0.34078	N	-0.979082819289165	0.09051	0.4267919	-1.00564235056166	0.09661	0.4819343	0.999985636174857	0.51787	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.76	2.91	0.32903	1.319000	0.33260	1.789000	0.28782	-0.966000	0.01961	0.002000	0.15269	0.006000	0.19429	0.207000	0.22098	0.1352:0.0:0.7288:0.136	8.231	0.30757	728	0.54609	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1585.98	99	chr9	712444	.	G	A	1585.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.25;DP=1816;ExcessHet=0.0000;FS=2.240;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=3.44;SOR=0.522	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr9	738349	738349	C	T	exonic	KANK1	.	nonsynonymous SNV	KANK1:NM_001354336:exon6:c.C2630T:p.P877L	Cerebral palsy, spastic quadriplegic, 2	.	0	1519	3	0	0	3	0.000986518	.	.	3052655	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.907	P	0.637	P	0.000	D	1.000	D	2.66	M	1.0	T	-0.558	T	0.231	T	0.644	4.102	21.1	5.36	2.675	7.352	19.454	0.357	0.0410125063735	.	.	3.348e-05	0	0	0	0	6.056e-05	0	0	2.59e-05	4	154602	rs201979002	4.378e-05	4.378e-05	3.539e-05	5.225e-05	0.0002	3.509e-05	3.193e-05	1.663e-05	1.425e-05	0	0	0.0011	0	0	0.0002	2.428e-05	9.934e-05	0	2.628e-05	2.627e-05	2.57e-05	2.69e-05	6.542e-05	8.14e-06	5.14e-06	.	.	0	0	6.542e-05	0.0009	0	0	0	0	0	0	0.001	0.78490	D	0.007	0.70582	D	0.907	0.50062	P	0.576	0.50064	P	0.000106	0.50451	D	0.000000	1	0.81001	D	3.19	0.88972	M	0.95	0.43279	T	-7.81	0.95950	D	0.788	0.78451	-0.5578	0.66488	T	0.231	0.59670	T	10	0.6260225	0.68246	D	0.041013	0.59697	D	0.357	0.67782	0.553	0.66995	0.441221003447	0.43743	0.670215287814758	0.66959	.	.	0.523870110512	0.42172	T	0.231843	0.59826	T	0.0233346	0.54831	T	-0.140612	0.60066	T	0.986025869846344	0.76852	D	0.984901	0.94786	D	0.679837	0.76960	0.5734578	0.75294	0.679837	0.76962	0.5734578	0.75295	-10.657	0.77744	D	0.9147399116881728	0.96152	0.444	0.74786	A	.;.;.;.;.	.;.;.;.;.	4.763906	0.77051	26.6	0.99520692964059931	0.69222	0.96847	0.71262	D	AEFDGBCIJ	0.874567	0.79751	D	0.508329416089747	0.67579	5.100756	0.474412120732255	0.66299	4.934061	1.0	0.98316	0.732398	0.92422	0	0.59043	0.45803	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.433000	0.79540	7.670000	0.64725	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.0:1.0:0.0:0.0	19.454	0.94871	783	0.47268	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1682.98	35	chr9	738349	.	C	T	1682.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.34;DP=835;ExcessHet=0.0000;FS=2.292;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=0.827;SOR=0.494	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1126	20	0	1	0
chr9	2639898	2639898	A	G	exonic	VLDLR	.	nonsynonymous SNV	VLDLR:NM_001018056:exon3:c.A242G:p.N81S	Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, Autosomal recessive	.	0	1503	19	0	0	19	0.00628099	.	.	425841	Cerebellar_ataxia,_intellectual_disability,_and_dysequilibrium_syndrome_1|not_specified|not_provided	MONDO:MONDO:0024542,MedGen:C4551552,OMIM:224050,Orphanet:1766|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.044	B	0.04	B	0.000	D	1.000	D	0.85	L	-2.84	D	0.252	D	0.727	D	0.046	2.742	15.13	5.92	2.263	4.490	10.959	0.428	0.0153376932889	0.0015	0.00239617	0.0020	0.0002	0.0010	0.0001	0	0.0016	0.0055	0.0071	0.0018823	291	154602	rs140526335	0.0018	0.0018	0.0016	0.0019	0.0072	0.0017	0.0017	0.0067	0.0066	0.0003	0.0013	0.0016	7.557e-05	0.0001	0.0062	0.0015	0.0023	0.0072	0.0013	0.0013	0.0012	0.0014	0.0075	0.0012	0.0011	0.0055	0.0049	0.0006	0	0.0014	0.0012	0	9.429e-05	0	0.0017	0.0014	0.0075	0.153	0.25255	T	0.142	0.33330	T	0.024	0.20614	B	0.034	0.22546	B	0.000024	0.55875	D	0.000000	0.999878	0.81001	D	0.39	0.12200	N	-3.79	0.95663	D	-2.86	0.65171	D	0.19	0.25130	0.252	0.86785	D	0.727	0.90669	D	10	0.010469168	0.00233	T	0.015338	0.36015	T	0.428	0.73517	.	.	0.776578565586	0.77452	0.44845219494177235	0.44763	0.0983170490784	0.11101	0.365291237831	0.20153	T	0.471293	0.81675	T	-0.338618	0.05485	T	-0.255313	0.49289	T	0.0443868002262097	0.04490	T	0.915608	0.69895	D	0.052636717	0.09847	0.081603274	0.18558	0.04889718	0.08596	0.07262831	0.15692	-2.219	0.04394	T	.	.	0.072	0.22464	B	.;.;.	.;.;.	3.304682	0.45380	22.1	0.99234005145777393	0.56310	0.88098	0.47879	D	AEFDGBCI	0.511179	0.53992	D	0.00406014141867189	0.42039	2.525572	0.215436882139292	0.50704	3.259653	0.999997596077997	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.620846	0.47308	0	.	.	5.92	5.92	0.95557	4.492000	0.60054	7.124000	0.57604	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9222:0.0:0.0778:0.0	10.959	0.46587	789	0.46346	EGF-like domain;.;EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2215.98	33	chr9	2639898	.	A	G	2215.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.697e+00;DP=898;ExcessHet=0.0000;FS=1.827;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=1.44;SOR=0.845	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1370	20	0	1	0
chr9	2718572	2718572	C	T	exonic	KCNV2	.	nonsynonymous SNV	KCNV2:NM_133497:exon1:c.C833T:p.A278V,	Retinal cone dystrophy 3B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1519935	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.15	T	0.979	D	0.436	B	0.000	N	0.994	D	1.195	L	-4.37	D	0.678	D	0.827	D	0.209	3.686	18.73	4.16	1.144	4.030	13.748	0.483	0.270371690915	0.0003	.	9.916e-05	0.0010	9.116e-05	0	0	0	0	6.36e-05	7.12e-05	11	154602	rs140144634	2.191e-05	2.326e-05	1.908e-05	2.478e-05	0.0008	1.586e-05	1.357e-05	0.0006	0.0005	0.0008	0	0	0	0	0	0	8.285e-05	0	0.0002	0.0002	0.0003	0.0002	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	6.539e-05	0	0	0	0	0	0	0	0.116	0.28395	T	0.145	0.33000	T	0.979	0.59044	D	0.436	0.45556	B	0.000006	0.62929	N	0.111909	0.994083	0.42155	D	1.595	0.40691	L	-4.37	0.97343	D	-1.88	0.43906	N	0.185	0.20129	0.678	0.92899	D	0.827	0.94186	D	10	0.22354516	0.39135	T	0.270372	0.89855	D	0.483	0.77271	.	.	0.955671733481	0.95519	0.7212035895137759	0.72063	0.0174109686577	0.01692	0.442906320095	0.30975	T	0.473832	0.80553	T	-0.129772	0.31533	T	-0.0422167	0.67552	D	0.151258720663098	0.17203	T	0.809419	0.45992	T	0.16134636	0.36137	0.2942816	0.55458	0.16134636	0.36136	0.2942816	0.55457	-3.98	0.23503	T	0.1110118821218279	0.09445	0.179	0.39064	B	.	.	2.394112	0.30746	18.53	0.99857190827567444	0.93639	0.95744	0.65969	D	AEFDBCI	0.618836	0.60449	D	0.0726199884126984	0.45189	2.779598	0.105276622454961	0.44818	2.756255	0.999953993237032	0.48110	0.372202	0.05800	0	0.546412	0.12157	0	0.48864	0.07692	0	0.613276	0.41899	0	.	.	5.05	4.16	0.48138	4.102000	0.57509	1.445000	0.26559	-0.840000	0.02799	0.999000	0.42656	0.810000	0.27029	0.625000	0.32026	0.0:0.9258:0.0:0.0742	13.748	0.62374	900	0.24599	Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	637.98	37	chr9	2718572	.	C	T	637.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.257e+00;DP=852;ExcessHet=0.0000;FS=1.133;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.29;ReadPosRankSum=0.083;SOR=0.997	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr9	2718848	2718848	G	A	exonic	KCNV2	.	nonsynonymous SNV	KCNV2:NM_133497:exon1:c.G1109A:p.G370D,	Retinal cone dystrophy 3B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1377361	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.45	T	1.0	D	0.991	D	0.000	D	1.000	D	1.66	L	-4.99	D	1.046	D	0.946	D	0.755	3.887	19.76	5.07	2.352	9.076	18.485	0.788	0.275722925334	.	0.000399361	0.0002	0	0	0	0	0	0	0.0013	0.0001552	24	154602	rs534563578	7e-05	6.977e-05	3.689e-05	0.0001	0.0011	5.866e-05	5.475e-05	0.0009	0.0009	0	0	0	0	0	0	3.597e-06	4.971e-05	0.0011	7.219e-05	7.217e-05	3.854e-05	0.0001	0.0023	3.967e-05	3.124e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.085	0.32769	T	0.045	0.49390	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.115	0.58683	M	-4.99	0.98507	D	-1.15	0.29525	N	0.678	0.68516	1.046	0.98041	D	0.946	0.98229	D	10	0.29073226	0.46654	T	0.275723	0.90047	D	0.788	0.92988	0.609	0.74182	0.984887991515	0.98472	0.9084740831747897	0.90820	0.142398766694	0.16057	0.65465760231	0.60647	T	0.362108	0.72807	T	0.063189	0.60013	T	0.277457	0.86988	D	0.254182309898512	0.23059	T	0.911709	0.68653	D	0.36590496	0.58281	0.42364335	0.66228	0.36192733	0.57983	0.34612527	0.60284	-8.644	0.65378	D	0.3998655109372717	0.49183	0.266	0.50025	B	.	.	5.189716	0.87036	29.1	0.99811459249329482	0.89531	0.97290	0.73825	D	AEFDBCI	0.919428	0.88994	D	0.654966684745378	0.76692	6.533455	0.650282438082134	0.78632	6.915357	0.999997041899991	0.74766	0.713056	0.82018	0	0.446627	0.06534	0	0.608524	0.38960	0	0.714379	0.83352	0	.	.	5.07	5.07	0.68106	9.198000	0.94138	11.758000	0.95564	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.697000	0.34049	0.0:0.0:1.0:0.0	18.485	0.90773	905	0.23532	Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1197.98	37	chr9	2718848	.	G	A	1197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.447;DP=867;ExcessHet=0.0000;FS=0.765;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=-2.043e+00;SOR=0.588	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr9	2807860	2807860	G	C	exonic	PUM3	.	nonsynonymous SNV	PUM3:NM_014878:exon17:c.C1768G:p.L590V,	.	.	435	1086	1	0	0	1	0.000460193	.	.	2339417	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	0.782	P	0.411	B	0.000	D	0.947	D	2.545	M	2.47	T	-1.045	T	0.059	T	0.71	1.543	11.11	1.53	0.412	0.349	11.046	0.211	0.018292513745	.	.	0.0001	0	0	0	0	0.0001	0	0.0004	9.7e-05	15	154602	rs201493570	7.801e-05	8.072e-05	6.4e-05	9.216e-05	0.0005	6.602e-05	6.144e-05	0.0002	0.0002	2.987e-05	4.472e-05	0	2.52e-05	0	0.0005	6.116e-05	0.0002	0.0003	1.972e-05	1.97e-05	2.571e-05	1.345e-05	2.941e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.941e-05	0	0	0.008	0.58626	D	0.017	0.60337	D	0.782	0.44333	P	0.411	0.44827	B	0.000000	0.84330	D	0.000000	0.946822	0.37543	D	.	.	.	2.47	0.14783	T	-1.73	0.41046	N	0.593	0.61256	-1.0446	0.15942	T	0.059	0.24723	T	10	0.4792884	0.60334	T	0.018293	0.40304	T	0.211	0.50185	0.721	0.85585	0.0551355673512	0.04727	0.35909996705142294	0.35823	0.00447420915356	0.00396	0.493885040283	0.37979	T	0.017349	0.14172	T	-0.231104	0.16503	T	-0.277592	0.47050	T	0.0574609728249047	0.06763	T	0.875013	0.58582	D	0.44020528	0.63415	0.22844805	0.47887	0.44020528	0.63416	0.22844805	0.47886	-7.048	0.54383	T	.	.	0.158	0.34840	B	.	.	2.120741	0.26994	17.31	0.99391647996392574	0.62383	0.81371	0.40788	D	AEFBI	0.121217	0.23577	N	0.00712089959041916	0.42179	2.536518	-0.0259894089842602	0.38545	2.272439	0.999680922567867	0.41756	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	1.53	0.22224	0.252000	0.18046	1.255000	0.25194	0.676000	0.76740	0.979000	0.35152	1.000000	0.68203	0.731000	0.35132	0.355:0.0:0.645:0.0	11.046	0.47078	834	0.38640	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	880.98	34	chr9	2807860	.	G	C	880.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.537e+00;DP=817;ExcessHet=0.0000;FS=3.617;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.31;ReadPosRankSum=-2.919e+00;SOR=0.427	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1303	20	0	1	0
chr9	2831266	2831266	A	T	exonic	PUM3	.	nonsynonymous SNV	PUM3:NM_014878:exon6:c.T595A:p.F199I,	.	.	454	1066	2	0	0	2	0.000937207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.97	D	0.833	P	0.000	D	1.000	D	2.955	M	2.18	T	-0.775	T	0.149	T	0.872	4.765	26.7	5.31	2.151	8.410	14.734	0.468	0.0362471573919	7.7e-05	.	2.477e-05	0	0	0	0	3.002e-05	0.0011	0	1.94e-05	3	154602	rs377017737	1.105e-05	1.095e-05	1.101e-05	1.11e-05	0.0002	6.54e-06	5.3e-06	3.12e-06	2.26e-06	0	2.302e-05	0	0	0	0.0002	7.262e-06	8.342e-05	1.18e-05	3.942e-05	3.94e-05	3.853e-05	4.034e-05	6.541e-05	1.715e-05	1.129e-05	7.99e-06	2.99e-06	4.823e-05	0	6.541e-05	0	0	0	0	2.941e-05	0.0005	0	0.002	0.72154	D	0.0	0.92824	D	0.97	0.56973	D	0.833	0.59784	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	2.18	0.18875	T	-5.02	0.82511	D	0.862	0.85872	-0.7748	0.56592	T	0.149	0.47593	T	10	0.8218818	0.81387	D	0.036247	0.56869	D	0.468	0.76289	.	.	0.231231049324	0.22751	0.6448640389898748	0.64421	0.00474413316068	0.00415	0.606364667416	0.53803	T	0.143381	0.47946	T	0.0787643	0.61895	D	0.0575099	0.74080	D	0.791095316410065	0.45762	D	0.872113	0.57861	D	0.8641107	0.88401	0.66029686	0.80098	0.8641107	0.88402	0.66029686	0.80099	-7.075	0.54580	T	.	.	0.663	0.71431	P	.	.	4.876855	0.79940	27.2	0.99288743886322928	0.58184	0.99365	0.95074	D	AEFBI	0.884730	0.81467	D	0.808652765589943	0.86645	8.952101	0.770172436804184	0.87653	9.297578	0.99999891179551	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	8.486000	0.90295	11.092000	0.85948	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	1.0:0.0:0.0:0.0	14.734	0.69018	838	0.37812	Pumilio homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	800.98	37	chr9	2831266	.	A	T	800.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.341e+00;DP=881;ExcessHet=0.0000;FS=0.777;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.43;ReadPosRankSum=0.407;SOR=0.797	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1392	20	0	1	0
chr9	4117933	4117933	C	G	exonic	GLIS3	.	nonsynonymous SNV	GLIS3:NM_152629:exon3:c.G1080C:p.E360D	Diabetes mellitus, neonatal, with congenital hypothyroidism, Autosomal recessive	.	0	1512	10	0	0	10	0.00329598	.	.	193742	not_provided|Neonatal_diabetes_mellitus_with_congenital_hypothyroidism|not_specified	MedGen:C3661900|MONDO:MONDO:0012436,MedGen:C1857775,OMIM:610199,Orphanet:79118|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.31	T	0.01	B	0.023	B	0.000	D	1.000	D	0.265	N	-2.02	D	-0.359	T	0.407	T	0.349	2.433	14.09	5.51	2.595	3.275	13.692	0.241	0.027846564951	0.0038	0.00199681	0.0028	0.0016	0.0017	0	0.0012	0.0042	0.0044	0.0007	0.0029366	454	154602	rs72687988	0.0041	0.0041	0.0041	0.0041	0.0047	0.0040	0.0039	0.0046	0.0045	0.0010	0.0021	0.0078	0	0.0011	0.0042	0.0047	0.0039	0.0010	0.0030	0.0030	0.0032	0.0028	0.0048	0.0028	0.0027	0.0044	0.0042	0.0009	0.0033	0.0031	0.0069	0	0.0013	0.0068	0.0048	0.0033	0.0002	0.384	0.14449	T	0.322	0.22359	T	0.01	0.15535	B	0.022	0.19653	B	0.000073	0.52346	D	0.000000	0.999662	0.49394	D	0.41	0.12415	N	-2.83	0.91249	D	-1.56	0.37955	N	0.281	0.31814	-0.3591	0.73290	T	0.407	0.75656	T	10	0.007063985	0.00161	T	0.027847	0.50607	D	0.241	0.54641	0.4	0.42917	0.938952316478	0.93832	0.3079862938546511	0.30711	0.145997136557	0.16486	0.59593129158	0.52330	T	0.161771	0.50617	T	-0.279464	0.10724	T	-0.173391	0.57132	T	0.0103554141077361	0.00142	T	0.913409	0.69158	D	0.23363514	0.46171	0.1695142	0.38990	0.18452345	0.39771	0.17580035	0.40070	-5.119	0.40977	T	.	.	0.303	0.55438	B	.;.	.;.	4.535016	0.71228	25.6	0.98347366897334476	0.40507	0.62904	0.31924	D	ALL	0.498040	0.53230	N	-0.132925408139564	0.35964	2.072526	0.0966217713423375	0.44379	2.720748	0.999999999999988	0.74766	0.520426	0.21595	0	0.61073	0.52368	0	0.440839	0.06518	1	0.638833	0.57524	0	.	.	5.51	5.51	0.81769	3.340000	0.51861	2.247000	0.31658	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.9261:0.0:0.0739	13.692	0.62033	882	0.29131	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.04762	3174.11	63	chr9	4117933	.	C	G	3174.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.975e+00;DP=1323;ExcessHet=0.1072;FS=3.993;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=0.182;SOR=0.503	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1324	19	0	2	0
chr9	4118388	4118388	G	A	exonic	GLIS3	.	nonsynonymous SNV	GLIS3:NM_152629:exon3:c.C625T:p.P209S	Diabetes mellitus, neonatal, with congenital hypothyroidism, Autosomal recessive	.	0	1510	12	0	0	12	0.00395778	.	.	308470	Neonatal_diabetes_mellitus_with_congenital_hypothyroidism|Monogenic_diabetes|not_provided	MONDO:MONDO:0012436,MedGen:C1857775,OMIM:610199,Orphanet:79118|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.74	T	0.0	B	0.001	B	0.697	N	1.000	N	-1.645	N	3.04	T	-0.924	T	0.004	T	0.113	-1.951	0.007	2.16	0.147	1.221	7.604	0.068	0.0038800402016	.	0.00219649	0.0025	0.0010	0.0042	0	0.0004	0.0035	0.0040	0.0007	0.0014812	229	154602	rs143056249	0.0020	0.0020	0.0020	0.0020	0.0023	0.0019	0.0019	0.0023	0.0022	0.0002	0.0020	7.7e-05	0	8.808e-05	0.0023	0.0023	0.0022	0.0006	0.0017	0.0017	0.0017	0.0017	0.0039	0.0015	0.0015	0.0031	0.0028	0.0004	0	0.0039	0	0	0.0003	0.0068	0.0025	0.0024	0.0006	0.83	0.02928	T	0.718	0.06284	T	0.0	0.02946	B	0.0	0.04355	B	0.697453	0.10122	N	0.803093	0.999983	0.18198	N	-0.64	0.02118	N	3.04	0.08898	T	0.47	0.03090	N	0.074	0.04913	-0.9240	0.44999	T	0.004	0.01400	T	10	0.004603833	0.00096	T	0.00388	0.09117	T	0.068	0.19811	.	.	0.38225645794	0.37833	0.194961217048772	0.19414	0.0260877877061	0.02663	0.29513540864	0.09677	T	0.024397	0.18443	T	-0.679831	0.00048	T	-0.754234	0.03323	T	0.0047045980365711	0.00050	T	0.660434	0.26965	T	0.023002176	0.01004	0.0446427	0.05830	0.026016003	0.01606	0.041737553	0.04812	-4.121	0.25599	T	.	.	0.066	0.02118	B	.;.	.;.	0.958715	0.13353	9.855	0.22977797875136988	0.00950	0.27591	0.23320	N	AEFDBI	0.103515	0.20737	N	-1.02634273265923	0.08060	0.3765955	-0.852634052249633	0.13224	0.6848539	0.999982086031212	0.51787	0.525926	0.21836	0	0.573888	0.26702	0	0.596394	0.31383	0	0.584449	0.35598	0	.	.	5.63	2.16	0.26663	1.242000	0.32358	0.637000	0.20283	0.676000	0.76740	0.998000	0.41325	0.011000	0.20116	0.111000	0.18785	0.3448:0.557:0.0982:0.0	7.604	0.27260	882	0.29131	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	4656.9	44	chr9	4118388	.	G	A	4656.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=2.70;DP=926;ExcessHet=0.0082;FS=1.919;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=21.97;ReadPosRankSum=0.831;SOR=0.897	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	1	2	0
chr9	4286209	4286209	T	C	exonic	GLIS3	.	nonsynonymous SNV	GLIS3:NM_001042413:exon2:c.A217G:p.N73D,	Diabetes mellitus, neonatal, with congenital hypothyroidism, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.493	P	0.298	B	.	.	1.000	N	0.55	N	2.72	T	-1.026	T	0.028	T	0.052	2.123	13.06	4.61	0.995	2.585	8.817	0.053	0.00970880780032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	3.42e-06	1.361e-06	5.5e-06	0.0002	1e-06	7.3e-07	.	.	2.987e-05	0	0	0	0	0.0002	8.993e-07	3.311e-05	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.033	0.44358	D	0.675	0.06205	T	0.045	0.21781	B	0.022	0.19653	B	.	.	.	.	0.986159	0.24643	N	.	.	.	2.72	0.11947	T	-0.23	0.44284	N	0.423	0.46274	-1.0263	0.21658	T	0.028	0.11971	T	9	0.12390208	0.23527	T	0.009709	0.25359	T	0.053	0.14996	0.098	0.01383	0.536194329819	0.53270	0.07298867225001324	0.07235	0.0292635584544	0.03013	0.312239825726	0.12245	T	0.066634	0.32996	T	-0.339598	0.05416	T	-0.725586	0.04531	T	0.554369449615479	0.34641	D	0.441056	0.14261	T	.	.	.	.	.	.	.	.	-4.105	0.25364	T	.	.	0.100	0.17488	B	.;.;.	.;.;.	2.707732	0.35383	19.88	0.98692508694862335	0.44780	0.79882	0.39674	D	AEFDBI	0.139127	0.26063	N	-0.312326626640875	0.28678	1.583867	-0.164186026578654	0.32866	1.874132	0.999990047896874	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.75	4.61	0.56724	2.582000	0.45751	2.378000	0.32469	-0.133000	0.13014	1.000000	0.71638	0.998000	0.33993	0.727000	0.35000	0.0:0.1469:0.0:0.8531	8.817	0.34159	898	0.25240	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1552.98	47	chr9	4286209	.	T	C	1552.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.180e-01;DP=883;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=1.18;SOR=0.689	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr9	4635379	4635379	A	G	exonic	SPATA6L	.	nonsynonymous SNV	SPATA6L:NM_001353486:exon4:c.T247C:p.Y83H	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.991	D	0.000	D	1.000	D	.	.	1.03	T	-0.092	T	0.430	T	0.843	4.088	21.0	5.5	2.099	4.211	13.130	0.425	0.317153610716	.	0.000199681	0.0002	0	8.708e-05	0	0	0	0.0022	0.0015	0.0001811	28	154602	rs572124054	8.745e-05	8.824e-05	1.933e-05	0.0002	0.0015	7.46e-05	7.003e-05	0.0013	0.0012	0	0	0	0	0	0	0	5.042e-05	0.0015	5.91e-05	5.906e-05	1.285e-05	0.0001	0.0019	3.076e-05	2.209e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000025	0.55875	D	0.071137	0.653952	0.81001	D	.	.	.	-0.05	0.63403	T	-3.2	0.64710	D	0.654	0.66443	-0.0918	0.80287	T	0.430	0.77186	T	9	0.18701953	0.34193	T	0.317154	0.91364	D	0.425	0.73299	.	.	0.231873229951	0.22792	.	.	.	.	.	.	.	.	.	.	-0.0542709	0.43797	T	0.113889	0.77829	D	0.324549427594134	0.26005	T	0.854215	0.54045	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.635	0.70300	P	.	.	4.481926	0.69940	25.4	0.99855371026335726	0.93458	0.87903	0.47606	D	AEFHI	0.745749	0.68833	D	0.592366831862804	0.72698	5.846747	0.58492540059559	0.73857	6.039854	0.999868098318507	0.44398	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.5	5.5	0.81386	4.137000	0.57773	11.252000	0.90779	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	1.0:0.0:0.0:0.0	13.130	0.58795	894	0.26265	Spermatogenesis-associated protein 6, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1797.98	35	chr9	4635379	.	A	G	1797.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.295;DP=906;ExcessHet=0.0000;FS=0.557;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.27;ReadPosRankSum=-1.190e+00;SOR=0.741	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,102,1530	20	0	1	0
chr9	4823599	4823599	G	A	exonic	RCL1	.	nonsynonymous SNV	RCL1:NM_005772:exon2:c.G188A:p.R63Q,	.	.	428	1093	1	0	0	1	0.000457247	.	.	2695010	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.46	T	0.593	P	0.096	B	0.000	D	1.000	D	1.45	L	.	.	-0.925	T	0.157	T	0.576	2.950	15.83	5.8	2.740	4.998	20.051	0.123	0.00613880152573	.	0.000199681	8.256e-05	0	0	0	0	1.502e-05	0	0.0005	7.76e-05	12	154602	rs115216700	8.433e-05	8.482e-05	8.595e-05	8.269e-05	0.0005	7.219e-05	6.765e-05	0.0004	0.0003	3.018e-05	0	0	2.539e-05	0	0	6.663e-05	9.96e-05	0.0005	4.6e-05	4.595e-05	2.571e-05	6.72e-05	0.0002	2.109e-05	1.527e-05	3.763e-05	2.576e-05	0	0	0	0	0	0	0	8.822e-05	0	0.0002	0.318	0.17183	T	0.516	0.38160	T	0.593	0.39147	P	0.096	0.30313	B	0.000000	0.84330	D	0.048468	0.999994	0.58761	D	1.87	0.49600	L	.	.	.	-1.36	0.34397	N	0.539	0.56662	-0.9246	0.44915	T	0.157	0.48891	T	9	0.10673314	0.19793	T	0.006139	0.16082	T	0.123	0.34020	.	.	0.262679179196	0.25893	0.6328060110455264	0.63214	0.0789111135708	0.08879	0.700301170349	0.67186	T	0.019894	0.15761	T	-0.196256	0.21347	T	-0.174747	0.57007	T	0.0979989882098139	0.12136	T	0.90391	0.79866	D	0.20112842	0.42112	0.1767738	0.40234	0.20112842	0.42112	0.1767738	0.40234	-7.399	0.56897	T	.	.	0.112	0.21877	B	.;.	.;.	4.074861	0.60568	24.2	0.99707746857000368	0.81074	0.95313	0.64236	D	AEFGBI	0.542651	0.55830	D	0.23411883642901	0.52859	3.457536	0.37735062403958	0.60171	4.201834	0.999999999843613	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.8	5.8	0.92081	5.097000	0.64376	9.821000	0.81804	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.051	0.97627	880	0.29376	RNA 3'-terminal phosphate cyclase domain;RNA 3'-terminal phosphate cyclase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1220.98	34	chr9	4823599	.	G	A	1220.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.345;DP=803;ExcessHet=0.0000;FS=3.726;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=0.214;SOR=0.922	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1095	20	0	1	0
chr9	5069050	5069050	G	T	exonic	JAK2	.	nonsynonymous SNV	JAK2:NM_001322204:exon8:c.G908T:p.C303F	Erythrocytosis, somatic;Leukemia, acute myeloid, somatic;Myelofibrosis, somatic;Polycythemia vera, somatic;Thrombocythemia 3, Autosomal dominant, Somatic mutation	.	13	1507	1	1	0	3	0.000994365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.999	D	0.972	D	0.000	D	1.000	D	1.36	L	-2.28	D	0.139	D	0.681	D	0.974	2.831	15.43	5.02	2.310	7.590	18.352	0.803	0.191405695874	.	.	8.353e-06	0	0	0	0	1.51e-05	0	0	6.5e-06	1	154602	rs757327746	6.907e-06	6.841e-06	6.874e-06	6.941e-06	0.0004	3.49e-06	2.55e-06	6.173e-05	2.551e-05	0	0	3.886e-05	0	0	0.0004	2.715e-06	6.687e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.566	0.06262	T	0.575	0.08654	T	0.999	0.77913	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.34	0.33385	L	-2.28	0.87512	D	-2.85	0.60029	D	0.691	0.69649	0.139	0.84863	D	0.681	0.88966	D	10	0.87958264	0.87264	D	0.191406	0.86182	D	0.803	0.93582	0.742	0.87401	0.975986362654	0.97572	0.7870126916332401	0.78653	0.824390789739	0.67314	0.742493510246	0.73340	T	0.83259	0.96018	D	0.375455	0.88413	D	0.317024	0.88966	D	0.714070200920105	0.41400	D	0.840516	0.54691	T	0.8655986	0.88516	0.4747647	0.69561	0.8655986	0.88518	0.4747647	0.69561	-7.193	0.55431	T	0.5114252279377938	0.58512	0.585	0.72295	P	.;.	.;.	4.766631	0.77121	26.6	0.97959790497518184	0.37165	0.98026	0.78979	D	AEFBI	0.913662	0.87596	D	0.540037446076716	0.69475	5.362516	0.559906844400817	0.72091	5.755275	0.999999999959681	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.573888	0.23631	0	0.669	0.65921	0	.	.	5.02	5.02	0.66742	7.702000	0.83553	.	.	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.352	0.90283	661	0.61838	SH2 domain|SH2 domain|SH2 domain|Tyrosine-protein kinase JAK2, SH2 domain;SH2 domain|SH2 domain|SH2 domain|Tyrosine-protein kinase JAK2, SH2 domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1110.98	34	chr9	5069050	.	G	T	1110.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.267e+00;DP=784;ExcessHet=0.0000;FS=0.827;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-1.508e+00;SOR=0.876	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1076	20	0	1	0
chr9	5089776	5089776	C	G	exonic	JAK2	.	nonsynonymous SNV	JAK2:NM_001322204:exon17:c.C2227G:p.L743V	Erythrocytosis, somatic;Leukemia, acute myeloid, somatic;Myelofibrosis, somatic;Polycythemia vera, somatic;Thrombocythemia 3, Autosomal dominant, Somatic mutation	.	0	1520	2	0	0	2	0.000657462	.	.	783422	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.31	T	0.124	B	0.092	B	0.001	D	1.000	D	0.82	L	-1.66	D	-0.635	T	0.334	T	0.217	1.761	11.85	3.4	1.195	2.410	9.622	0.142	0.0450615593653	7.7e-05	0.000599042	0.0005	0	0	0	0.0065	0.0003	0.0011	0	0.0004269	66	154602	rs201551707	0.0002	0.0002	0.0002	0.0002	7.863e-05	0.0002	0.0002	4.553e-05	4.138e-05	0	2.319e-05	0	7.863e-05	0.0050	0	5.701e-05	0.0003	3.537e-05	0.0005	0.0005	0.0003	0.0007	0.0004	0.0004	0.0004	6.842e-05	4.24e-05	0	0	0	0	0.0004	0.0068	0	0.0001	0	0	0.224	0.18691	T	0.429	0.13752	T	0.124	0.26825	B	0.092	0.30031	B	0.000824	0.41547	D	0.220621	0.999997	0.58761	D	0.5	0.13406	N	-1.66	0.82715	D	-0.67	0.19297	N	0.436	0.47487	-0.6347	0.63371	T	0.334	0.70084	T	10	0.011414528	0.00250	T	0.045062	0.61798	D	0.142	0.37995	.	.	0.742884717384	0.74057	0.287134496433068	0.28626	0.497661419825	0.48262	0.773985803127	0.78022	T	0.536153	0.84035	D	-0.253657	0.13654	T	-0.296161	0.45128	T	0.0446898236610311	0.04546	T	0.877812	0.59215	D	0.30286038	0.53160	0.14198224	0.33794	0.26758125	0.49829	0.14001217	0.33386	-4.706	0.33477	T	0.17991224231891148	0.23129	0.082	0.08657	B	.	.	3.116819	0.42060	21.5	0.9908196954046592	0.51978	0.82143	0.41416	D	AEFDBCI	0.520232	0.54517	D	-0.207491783753612	0.32826	1.855621	-0.0554323453075953	0.37256	2.178922	0.83392394327002	0.24743	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.669	0.65921	0	.	.	5.28	3.4	0.38031	3.038000	0.49473	.	.	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.1427:0.7836:0.0:0.0737	9.622	0.38891	670	0.60992	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain|Janus kinase 2, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	567.98	34	chr9	5089776	.	C	G	567.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.600e-02;DP=778;ExcessHet=0.0000;FS=1.887;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.68;ReadPosRankSum=-2.350e-01;SOR=0.462	GT:AD:DP:GQ:PL	0/1:55,30:85:99:582,0,1304	20	0	1	0
chr9	5522576	5522576	G	-	exonic	PDCD1LG2	.	frameshift deletion	PDCD1LG2:NM_025239:exon2:c.30delG:p.E11Nfs*7,	.	.	431	1065	25	1	0	27	0.0125174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0.00199681	0.0020	0.0003	0.0006	0	0.0002	0.0026	0.0033	0.0033	0.0016817	260	154602	rs567501802	0.0016	0.0016	0.0014	0.0017	0.0116	0.0015	0.0015	0.0094	0.0086	0.0002	0.0010	0.0113	0	0.0002	0.0116	0.0013	0.0022	0.0037	0.0015	0.0015	0.0014	0.0015	0.0039	0.0013	0.0012	0.0026	0.0021	0.0002	0.0011	0.0014	0.0118	0	9.427e-05	0.0204	0.0017	0.0033	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	870.94	34	chr9	5522575	.	TG	T	870.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.940e-01;DP=770;ExcessHet=0.0000;FS=0.914;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.17;ReadPosRankSum=1.40;SOR=0.863	GT:AD:DP:GQ:PL	0/1:48,30:78:99:885,0,1547	20	0	1	0
chr9	5770273	5770273	A	G	exonic	RIC1	.	nonsynonymous SNV	RIC1:NM_001206557:exon22:c.A3500G:p.N1167S	.	.	422	1093	5	2	0	9	0.00410023	.	.	3185200	RIC1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.41	T	0.001	B	0.002	B	0.000	D	1.000	D	1.175	L	.	.	-1.067	T	0.110	T	0.021	1.864	12.19	1.8	0.059	2.889	6.002	0.164	0.00214837415935	0.0007	0.00159744	0.0013	0.0002	0.0002	0	0.0003	0.0010	0.0011	0.0059	0.0012096	187	154602	rs147192288	0.0010	0.0010	0.0009	0.0011	0.0043	0.0010	0.0010	0.0039	0.0038	0.0001	0.0001	0.0039	0	0.0005	0.0026	0.0008	0.0014	0.0043	0.0008	0.0008	0.0008	0.0009	0.0075	0.0007	0.0007	0.0055	0.0049	0.0001	0	6.534e-05	0.0049	0	0.0003	0.0034	0.0009	0.0014	0.0075	0.283	0.18626	T	0.261	0.31125	T	0.001	0.07471	B	0.002	0.06944	B	0.000006	0.62929	D	0.138815	0.970916	0.38832	D	0.895	0.22405	L	.	.	.	-0.72	0.25551	N	0.167	0.17691	-1.0672	0.10039	T	0.110	0.39580	T	9	0.0067324936	0.00153	T	0.002148	0.04016	T	0.164	0.42212	.	.	0.043077524339	0.03247	0.15597472993142328	0.15518	.	.	0.285122215748	0.08217	T	0.030826	0.21757	T	-0.599913	0.00146	T	-0.634791	0.10053	T	0.010907179945957	0.00156	T	0.833717	0.50357	T	0.035624687	0.04230	0.048788868	0.07322	0.035624687	0.04230	0.048788868	0.07321	-2.432	0.05333	T	.	.	0.059	0.00754	B	.;.;.	.;.;.	1.601350	0.20470	14.76	0.98545141535652259	0.42770	0.91777	0.54241	D	AEGBI	0.229748	0.35323	N	-0.383637982278124	0.26051	1.418864	-0.236054983333018	0.30255	1.701894	0.997980917368862	0.36275	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.56	1.8	0.24069	2.921000	0.48549	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.5976:0.2566:0.1458:0.0	6.002	0.18754	457	0.78953	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	799.98	37	chr9	5770273	.	A	G	799.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.395e+00;DP=817;ExcessHet=0.0000;FS=2.197;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.12;ReadPosRankSum=0.199;SOR=0.412	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1251	20	0	1	0
chr9	6553379	6553379	C	T	exonic	GLDC	.	nonsynonymous SNV	GLDC:NM_000170:exon20:c.G2446A:p.A816T,	Glycine encephalopathy, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	524876	not_provided|Non-ketotic_hyperglycinemia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.39	T	0.941	P	0.662	P	0.000	D	1.000	D	1.485	L	-5.03	D	0.999	D	0.929	D	0.376	4.427	23.5	4.84	2.406	5.765	18.316	0.668	0.137532005909	.	.	4.948e-05	0	0.0002	0	0	3e-05	0	0.0001	4.53e-05	7	154602	rs775834004	4.173e-05	4.173e-05	3.539e-05	4.813e-05	0.0002	3.311e-05	3.001e-05	0.0001	0.0001	2.987e-05	0.0002	0	0	0	0.0002	3.597e-05	8.28e-05	3.478e-05	7.23e-05	7.224e-05	7.71e-05	6.727e-05	0.0004	3.972e-05	3.128e-05	0.0002	0.0001	2.413e-05	0	0.0004	0	0	0	0	5.881e-05	0	0	0.199	0.20456	T	0.268	0.22494	T	0.941	0.52883	P	0.662	0.52860	P	0.000042	0.53742	D	0.160176	1	0.81001	D	1.645	0.42016	L	-5.03	0.98578	D	-2.34	0.51811	N	0.572	0.59478	0.999	0.97173	D	0.929	0.97659	D	10	0.4821699	0.60496	T	0.137532	0.82003	D	0.668	0.87674	0.477	0.55502	0.991686033947	0.99159	0.9015927798796813	0.90131	0.0464376371656	0.05045	0.615137934685	0.55042	T	0.469484	0.80300	T	-0.00285354	0.51260	T	0.0131705	0.71187	D	0.521986246109009	0.33438	D	0.959504	0.84855	D	0.44623506	0.63802	0.20249479	0.44281	0.44623506	0.63803	0.20249479	0.44280	-4.787	0.34440	T	0.2186470814143846	0.29448	0.122	0.37969	B	.;.;.;.	.;.;.;.	4.952621	0.81823	27.6	0.99855771806047944	0.93458	0.89274	0.49640	D	AEFGBCI	0.748147	0.68999	D	0.47454813086328	0.65610	4.844004	0.505585728362041	0.68365	5.210074	0.999999999680182	0.74766	0.615465	0.37627	0	0.379588	0.06130	0	0.658983	0.55881	0	0.375	0.06713	1	.	.	4.84	4.84	0.62125	5.840000	0.69113	7.685000	0.65502	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	18.316	0.90160	768	0.49510	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3938.98	33	chr9	6553379	.	C	T	3938.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.110;DP=1021;ExcessHet=0.0000;FS=0.404;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.99;MQRankSum=0.00;QD=12.27;ReadPosRankSum=-5.800e-02;SOR=0.736	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1326	20	0	1	0
chr9	6588665	6588665	T	G	exonic	GLDC	.	nonsynonymous SNV	GLDC:NM_000170:exon13:c.A1618C:p.K540Q,	Glycine encephalopathy, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	459262	Non-ketotic_hyperglycinemia|GLDC-related_disorder|not_provided	Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.31	T	0.001	B	0.002	B	0.001	D	0.992	D	0.665	N	-4.66	D	0.278	D	0.672	D	0.316	2.370	13.88	5.8	2.216	1.933	12.053	0.297	0.0558489270578	0.0015	0.00179712	0.0005	0.0053	0.0002	0	0	0	0	6.076e-05	0.0004657	72	154602	rs140516872	0.0001	0.0001	0.0002	9.216e-05	0.0040	0.0001	0.0001	0.0034	0.0032	0.0040	0.0003	0	0	0	0.0005	3.599e-06	0.0004	1.159e-05	0.0012	0.0012	0.0012	0.0012	0.0043	0.0011	0.0010	0.0038	0.0036	0.0043	0	0.0003	0	0	0	0	0	0	0	0.377	0.11298	T	0.181	0.29346	T	0.001	0.07471	B	0.002	0.06944	B	0.000550	0.43413	D	0.236623	0.992	0.41428	D	0.805	0.20218	L	-4.66	0.97956	D	-0.17	0.09627	N	0.488	0.52208	0.278	0.87201	D	0.672	0.88643	D	10	0.0134238005	0.00285	T	0.055849	0.66389	D	0.297	0.61730	.	.	0.97461534946	0.97433	0.7058608944292393	0.70528	0.0554290261123	0.06130	0.721733808517	0.70298	T	0.269445	0.64164	T	-0.220532	0.17920	T	-0.0892895	0.64216	T	0.00986812288271098	0.00131	T	0.972203	0.89922	D	0.31899008	0.54555	0.24686684	0.50205	0.29389724	0.52352	0.2104797	0.45435	-10.529	0.77014	D	0.08259779950520983	0.04378	0.086	0.10594	B	.	.	2.575459	0.33383	19.32	0.96945376842275588	0.31715	0.87553	0.47130	D	AEFDBI	0.399650	0.47485	N	-0.182843466962239	0.33848	1.92513	0.0391680860618663	0.41552	2.498231	0.999999304035912	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.586402	0.36253	0	.	.	5.8	5.8	0.92081	1.941000	0.39861	6.220000	0.55115	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.1437:0.8563	12.053	0.52817	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1820.98	37	chr9	6588665	.	T	G	1820.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=833;ExcessHet=0.0000;FS=1.284;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.22;ReadPosRankSum=0.912;SOR=0.577	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1344	20	0	1	0
chr9	7011719	7011719	T	C	exonic	KDM4C	.	nonsynonymous SNV	KDM4C:NM_001304340:exon11:c.T1043C:p.I348T	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.001	B	0.003	B	0.972	N	1.000	N	1.5	L	0.58	T	-1.007	T	0.113	T	0.12	-0.641	1.169	0.841	-0.091	0.834	5.109	0.040	0.0149411933122	0.0008	0.000199681	0.0008	9.612e-05	0	0	0	0.0008	0	0.0026	0.0008021	124	154602	rs34369202	0.0013	0.0013	0.0013	0.0014	0.0032	0.0013	0.0012	0.0029	0.0028	0.0002	0.0002	0.0002	0	9.36e-05	0.0005	0.0014	0.0009	0.0032	0.0006	0.0006	0.0007	0.0005	0.0031	0.0005	0.0005	0.0019	0.0016	0.0002	0	0.0001	0	0	9.42e-05	0	0.0010	0	0.0031	0.667	0.05017	T	0.575	0.08746	T	0.0	0.02946	B	0.001	0.04355	B	0.971876	0.08153	N	0.988395	1	0.08975	N	1.87	0.49600	L	0.58	0.54149	T	0.15	0.09627	N	0.201	0.22228	-1.0073	0.27758	T	0.113	0.40377	T	10	0.0059782863	0.00134	T	0.014941	0.35377	T	0.040	0.10527	.	.	0.21737058555	0.21362	0.22452064612702188	0.22367	0.0464318094695	0.05045	0.322712630033	0.13832	T	0.006177	0.09180	T	-0.540485	0.00333	T	-0.552196	0.17116	T	0.00157631992483847	0.00016	T	0.634936	0.24909	T	0.05042495	0.09108	0.036170684	0.03009	0.05042495	0.09108	0.036170684	0.03009	-1.864	0.03173	T	.	.	0.054	0.00487	B	.;.;.;.;.	.;.;.;.;.	1.249459	0.16459	12.55	0.59423029359621626	0.06221	0.15605	0.18993	N	AEFDGBCIJ	0.051201	0.09025	N	-1.01658863821838	0.08259	0.3866283	-1.00965407291577	0.09572	0.4770023	0.999980720823985	0.51787	0.722319	0.85440	0	0.698795	0.70079	0	0.644132	0.48003	0	0.678554	0.66404	0	.	.	5.76	0.841	0.18052	0.837000	0.27212	0.020000	0.13575	-0.171000	0.11205	0.017000	0.19353	0.004000	0.18990	0.735000	0.35267	0.1283:0.3276:0.0:0.544	5.109	0.14136	879	0.29470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1077.98	34	chr9	7011719	.	T	C	1077.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.056e+00;DP=795;ExcessHet=0.0000;FS=8.522;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=-5.990e-01;SOR=1.445	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1291	20	0	1	0
chr9	7799707	7799707	C	G	exonic	DMAC1	.	nonsynonymous SNV	DMAC1:NM_001318058:exon1:c.G28C:p.E10Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.005	B	0.009	B	0.457	N	1.000	N	0.68	N	0.47	T	-1.027	T	0.087	T	0.082	1.493	10.94	2.59	0.788	0.830	7.635	0.019	0.0172210116179	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1183976274	7.059e-07	6.84e-07	0	1.427e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.705e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.21066	T	0.183	0.29153	T	0.001	0.07471	B	0.009	0.14300	B	0.457234	0.12435	N	0.692684	1	0.08975	N	.	.	.	0.47	0.56114	T	-1.25	0.31576	N	0.091	0.06990	-1.0269	0.21462	T	0.087	0.33857	T	10	0.062076807	0.07881	T	0.017221	0.38829	T	0.019	0.03383	0.185	0.09388	0.0551355673512	0.04727	0.45103197791192173	0.45021	0.186055020568	0.20911	.	.	.	.	.	.	-0.320285	0.06874	T	-0.577863	0.14737	T	0.04542671790666	0.04679	T	0.265573	0.04334	T	.	.	.	.	.	.	.	.	-3.674	0.18935	T	.	.	0.092	0.13362	B	.	.	1.434779	0.18534	13.79	0.7929244831508756	0.12676	0.12226	0.17138	N	ALL	0.151338	0.27580	N	-1.08704782395038	0.06881	0.3180431	-1.07433527599372	0.08207	0.4025589	0.99999999998545	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.48	2.59	0.30091	0.992000	0.29268	0.102000	0.14662	-0.307000	0.06116	0.013000	0.18845	0.002000	0.18203	0.000000	0.00833	0.1883:0.6301:0.1815:0.0	7.635	0.27431	963	0.08280	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	842.98	36	chr9	7799707	.	C	G	842.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.153;DP=824;ExcessHet=0.0000;FS=4.930;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.17;ReadPosRankSum=-1.009e+00;SOR=0.307	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,997	20	0	1	0
chr9	12694094	12694094	T	C	exonic	TYRP1	.	nonsynonymous SNV	TYRP1:NM_000550:exon2:c.T98C:p.V33A,	Albinism, oculocutaneous, type III, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	751398	not_provided|Oculocutaneous_albinism_type_3	MedGen:C3661900|MONDO:MONDO:0008747,MedGen:C0342683,OMIM:203290,Orphanet:79433	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.59	T	0.0	B	0.001	B	0.216	N	1.000	N	0.565	N	2.46	T	0.279	D	0.844	D	0.241	-0.421	2.038	0.567	-0.068	0.654	9.626	0.153	.	0.0006	0.000199681	0.0013	9.612e-05	0.0003	0	0.0109	0.0012	0.0011	6.057e-05	0.0011125	172	154602	rs146838872	0.0010	0.0010	0.0010	0.0010	0.0019	0.0009	0.0009	0.0011	0.0008	0.0002	0.0006	0	0	0.0095	0.0019	0.0007	0.0008	2.319e-05	0.0012	0.0012	0.0009	0.0016	0.0008	0.0011	0.0010	0.0006	0.0006	4.815e-05	0	0.0007	0	0	0.0112	0	0.0008	0.0005	0.0002	0.372	0.11478	T	0.242	0.29540	T	0.0	0.02946	B	0.001	0.04355	B	0.216066	0.16249	N	0.646541	1	0.08975	N	1.36	0.34107	L	2.46	0.99036	T	-1.14	0.29323	N	0.22	0.24634	0.279	0.87213	D	0.844	0.94805	D	10	0.0060635507	0.00136	T	.	.	.	0.153	0.40148	.	.	0.83414938143	0.83257	0.516038228722175	0.51526	0.00545414577032	0.00480	0.229937195778	0.01963	T	0.074781	0.47321	T	-0.267215	0.12069	T	-0.207053	0.53977	T	0.0083199415248709	0.00100	T	0.811819	0.46320	T	0.19446383	0.41196	0.07275501	0.15731	0.15269089	0.34648	0.087056406	0.20210	-4.043	0.24445	T	0.10119334320975597	0.07551	0.068	0.02670	B	.;.	.;.	-0.010238	0.04214	1.030	0.47420140829649177	0.03876	0.08554	0.14467	N	AEFBI	0.113593	0.22407	N	-1.22237266085996	0.04677	0.2115842	-1.20531244815141	0.05824	0.2785964	0.999633577615117	0.41205	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.63	0.567	0.16510	0.441000	0.21325	-4.305000	0.02227	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.032000	0.13371	0.0:0.3322:0.0:0.6678	9.626	0.38912	777	0.48198	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1567.98	33	chr9	12694094	.	T	C	1567.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.81;DP=803;ExcessHet=0.0000;FS=1.589;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.93;ReadPosRankSum=-1.054e+00;SOR=0.498	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1240	20	0	1	0
chr9	12821696	12821696	T	C	exonic	LURAP1L	.	nonsynonymous SNV	LURAP1L:NM_203403:exon2:c.T623C:p.I208T,	.	.	429	1067	26	0	0	26	0.012037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.0	B	0.002	B	0.573	N	1.000	N	0.695	N	0.84	T	-1.035	T	0.050	T	0.058	0.923	8.760	4.45	0.956	1.783	6.187	0.074	.	0.0065	0.00658946	0.0067	0.0021	0.0056	0	0.0038	0.0081	0.0088	0.0096	0.0067011	1036	154602	rs61755264	0.0083	0.0083	0.0082	0.0085	0.0137	0.0082	0.0081	0.0113	0.0104	0.0012	0.0057	0.0159	2.519e-05	0.0040	0.0137	0.0089	0.0077	0.0092	0.0052	0.0052	0.0053	0.0050	0.0078	0.0049	0.0047	0.0072	0.0070	0.0015	0	0.0054	0.0127	0	0.0017	0.0068	0.0078	0.0099	0.0058	0.067	0.35918	T	0.253	0.23501	T	.	.	.	.	.	.	0.572551	0.05488	N	1.264020	1	0.08975	N	.	.	.	0.84	0.47477	T	0.16	0.05217	N	0.093	0.07262	-1.0354	0.18731	T	0.050	0.21182	T	10	0.005319059	0.00117	T	.	.	.	0.074	0.21613	.	.	0.3085936734	0.30458	0.07636395279697009	0.07572	0.0354923742789	0.03747	0.362109303474	0.19693	T	.	.	.	-0.629934	0.00096	T	-0.670526	0.07575	T	0.00269191200996451	0.00028	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.04889	B	.	.	0.878504	0.12517	9.046	0.93405647518646784	0.23166	0.14882	0.18634	N	AEFDBI	0.196794	0.32375	N	-0.566462906350943	0.19970	1.049335	-0.465356978719384	0.23114	1.258878	0.999961960060817	0.48965	0.533608	0.22052	0	0.573888	0.26702	0	0.618467	0.43123	0	0.638833	0.57524	0	.	.	5.59	4.45	0.53365	1.991000	0.40348	0.178000	0.15598	-0.115000	0.14600	0.345000	0.25717	0.208000	0.23622	0.818000	0.38543	0.0:0.1423:0.1354:0.7223	6.187	0.19718	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	6166.11	34	chr9	12821696	.	T	C	6166.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.78;DP=1186;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=1.75;SOR=0.751	GT:AD:DP:GQ:PL	0/1:155,117:272:99:3046,0,3664	19	0	2	0
chr9	13168390	13168390	T	C	exonic	MPDZ	.	nonsynonymous SNV	MPDZ:NM_001261406:exon22:c.A3230G:p.H1077R	Hydrocephalus, nonsyndromic, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	1.0	D	0.999	D	0.001	D	1.000	D	1.745	L	1.15	T	-0.932	T	0.172	T	0.795	3.626	18.45	4.19	0.934	7.655	12.511	0.354	0.027143734527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.54683	D	0.122	0.38305	T	1.0	0.90584	D	0.999	0.92359	D	0.000899	0.41231	D	0.000000	0.99952	0.47407	D	1.92	0.51302	L	1.15	0.38236	T	-3.94	0.73378	D	0.727	0.77978	-0.9318	0.43874	T	0.172	0.51484	T	10	0.73585963	0.74615	D	0.027144	0.49992	D	0.354	0.67510	0.704	0.84054	0.463068873536	0.45932	0.7174230411935983	0.71685	.	.	0.808946490288	0.83330	D	0.090101	0.38513	T	0.119062	0.66279	D	-0.0667528	0.65858	T	0.984072506427765	0.75510	D	0.89491	0.65919	D	0.3044438	0.53300	0.3014344	0.56175	0.3044438	0.53300	0.3014344	0.56174	-11.379	0.82043	D	.	.	0.853	0.86433	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.947322	0.57808	23.9	0.99577508414446592	0.72802	0.97696	0.76478	D	AEFBI	0.939189	0.93944	D	0.563804521385392	0.70926	5.573924	0.539877344724308	0.70694	5.543289	0.997216321833269	0.35382	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	4.19	0.48645	7.605000	0.82070	7.912000	0.74078	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.1397:0.8603	12.511	0.55349	627	0.65350	PDZ domain;.;.;PDZ domain;.;.;PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.119	144.56	50	chr9	13168390	.	T	C	144.56	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-3.530e+00;DP=1567;ExcessHet=1.1607;FS=150.054;InbreedingCoeff=-0.1367;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.29;ReadPosRankSum=0.337;SOR=10.035	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1256	16	0	5	0
chr9	13168391	13168391	G	C	exonic	MPDZ	.	nonsynonymous SNV	MPDZ:NM_001261406:exon22:c.C3229G:p.H1077D	Hydrocephalus, nonsyndromic, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.999	D	0.001	D	1.000	D	2.095	M	1.13	T	-0.663	T	0.264	T	0.899	4.537	24.5	5.36	2.656	9.420	19.459	0.509	0.0485137705426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.53172	D	0.027	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000899	0.41231	D	0.000000	0.999987	0.54805	D	2.47	0.71715	M	1.13	0.38556	T	-4.12	0.75220	D	0.892	0.93252	-0.6632	0.62135	T	0.264	0.63523	T	10	0.79950947	0.79374	D	0.048514	0.63407	D	0.509	0.78910	0.676	0.81398	0.530948259028	0.52743	0.7832599608026783	0.78276	.	.	0.803409934044	0.82484	D	0.183282	0.53557	T	0.262473	0.79757	D	0.139248	0.79496	D	0.994370400905609	0.85626	D	0.883312	0.62654	D	0.35159937	0.57191	0.477112	0.69706	0.35159937	0.57191	0.477112	0.69707	-15.211	0.96822	D	.	.	0.932	0.89634	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.419285	0.68430	25.2	0.99404669178338745	0.62981	0.99314	0.94366	D	AEFBI	0.940665	0.94292	D	0.86785734346884	0.90100	10.25299	0.852903496062704	0.93184	11.878	0.999999999878541	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	5.36	0.76624	9.512000	0.97013	11.867000	0.98473	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.459	0.94902	627	0.65350	PDZ domain;.;.;PDZ domain;.;.;PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.119	122.88	50	chr9	13168391	.	G	C	122.88	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-4.238e+00;DP=1541;ExcessHet=1.1607;FS=163.893;InbreedingCoeff=-0.1408;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.24;ReadPosRankSum=0.453;SOR=9.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1256	16	0	5	0
chr9	13206036	13206036	C	T	exonic	MPDZ	.	nonsynonymous SNV	MPDZ:NM_001261406:exon11:c.G1354A:p.G452R	Hydrocephalus, nonsyndromic, autosomal recessive 2, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	1.0	D	1.0	D	0.001	D	1.000	D	2.51	M	0.76	T	-0.451	T	0.347	T	0.789	4.217	21.9	6.17	2.941	5.801	19.651	0.446	0.0222801088254	.	.	8.518e-06	0	0	0	0	1.541e-05	0	0	6.5e-06	1	154602	rs749740776	1.369e-06	1.368e-06	0	2.752e-06	0.0003	2.3e-07	9e-08	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.56456	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000516	0.43753	D	0.000000	0.999999	0.58761	D	2.75	0.80375	M	0.76	0.49919	T	-7.05	0.93856	D	0.669	0.72746	-0.4511	0.70364	T	0.347	0.71186	T	10	0.80933845	0.80235	D	0.02228	0.45152	T	0.446	0.74797	0.577	0.70217	0.6507085132	0.64780	0.6993112114150418	0.69872	.	.	0.641533851624	0.58782	T	0.140825	0.47556	T	0.12792	0.67158	D	-0.0540281	0.66747	D	0.848120342373097	0.50004	D	0.956938	0.85427	D	0.40625045	0.61163	0.47328448	0.69469	0.40625045	0.61164	0.47328448	0.69469	-11.878	0.84251	D	.	.	0.378	0.66325	A	.;.;.;.;.;.	.;.;.;.;.;.	4.314025	0.65970	24.9	0.99944052586096943	0.99868	0.91140	0.52938	D	AEFDBHCIJ	0.713789	0.66647	D	0.800178952187788	0.86116	8.783542	0.76222932149692	0.87066	9.096122	0.999999999788585	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	5.726000	0.68163	7.711000	0.66806	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0:1.0:0.0:0.0	19.651	0.95800	614	0.66605	PDZ domain|PDZ domain|PDZ domain;.;.;.;.;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2356.98	35	chr9	13206036	.	C	T	2356.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.350e-01;DP=871;ExcessHet=0.0000;FS=1.305;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.73;ReadPosRankSum=-4.700e-01;SOR=0.851	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1269	20	0	1	0
chr9	14776046	14776046	C	T	exonic	FREM1	.	nonsynonymous SNV	FREM1:NM_001177704:exon2:c.G208A:p.D70N	Bifid nose with or without anorectal and renal anomalies;Manitoba oculotrichoanal syndrome, Autosomal recessive;Trigonocephaly 2, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	2047364	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	1.0	D	1.0	D	0.000	D	1.000	D	3.42	M	-0.24	T	0.265	D	0.619	D	0.357	4.924	28.5	6.16	2.937	7.452	20.860	0.507	0.134978447894	8.1e-05	.	4.143e-05	0.0001	8.639e-05	0	0	4.498e-05	0	0	5.17e-05	8	154602	rs374901721	8.62e-05	8.619e-05	8.577e-05	8.665e-05	0.0005	7.354e-05	6.904e-05	0.0001	8.238e-05	2.987e-05	2.236e-05	0	0	0	0.0005	0.0001	8.282e-05	0	1.971e-05	1.97e-05	1.285e-05	2.69e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.5	0.92762	M	-0.24	0.66834	T	-4.7	0.79829	D	0.889	0.90138	0.265	0.86991	D	0.619	0.86559	D	10	0.8431059	0.83469	D	0.134978	0.81743	D	0.507	0.78786	.	.	0.732440012813	0.73005	0.8884507787285881	0.88814	.	.	0.55310857296	0.46296	T	0.337939	0.70726	T	-0.0605957	0.42814	T	-0.14329	0.59832	T	0.990708112716675	0.80934	D	0.948005	0.79945	D	0.93956244	0.95203	0.8952076	0.94636	0.93956244	0.95204	0.8952076	0.94636	-12.381	0.86657	D	0.7707794361934799	0.85179	0.466	0.65811	A	.;.;.	.;.;.	4.546924	0.71521	25.7	0.99916798419434161	0.98449	0.98184	0.80333	D	AEFBCI	0.946971	0.95702	D	0.932393191078632	0.93253	11.919	0.859523996899313	0.93561	12.12428	0.99999999992119	0.74766	0.581397	0.33459	0	0.59043	0.45803	0	0.565031	0.19037	0	0.586402	0.36253	0	.	.	6.16	6.16	0.99302	7.542000	0.81035	5.978000	0.52118	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.606000	0.31539	0.0:1.0:0.0:0.0	20.860	0.99763	764	0.49969	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2082.98	45	chr9	14776046	.	C	T	2082.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=1658;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.25;ReadPosRankSum=-2.000e-03;SOR=0.701	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr9	14784400	14784400	C	T	exonic	FREM1	.	nonsynonymous SNV	FREM1:NM_001379081:exon24:c.G4412A:p.S1471N	Bifid nose with or without anorectal and renal anomalies;Manitoba oculotrichoanal syndrome, Autosomal recessive;Trigonocephaly 2, Autosomal dominant	.	0	1514	8	0	0	8	0.00263505	.	.	215396	Trigonocephaly_2|Oculotrichoanal_syndrome|BNAR_syndrome|not_specified|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0013774,MedGen:C3280974,OMIM:614485,Orphanet:3366|MONDO:MONDO:0009560,MedGen:C1855425,OMIM:248450,Orphanet:2717|MONDO:MONDO:0012165,MedGen:C2750433,OMIM:608980,Orphanet:217266|MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.34	T	0.001	B	0.004	B	0.000	D	1.000	N	1.085	L	0.59	T	-1.033	T	0.114	T	0.016	0.349	5.892	5.53	2.758	2.993	11.387	0.100	0.00874680397119	0.0005	.	0.0003	0	0.0002	0	0	0.0004	0.0011	6.083e-05	0.0002199	34	154602	rs200650442	0.0002	0.0002	0.0002	0.0003	0.0113	0.0002	0.0002	0.0091	0.0083	8.962e-05	0.0002	0.0041	0	0	0.0113	9.895e-05	0.0010	0.0002	0.0002	0.0002	0.0002	0.0003	0.0003	0.0002	0.0002	0.0001	7.896e-05	0.0002	0	0.0003	0.0037	0	0	0	0.0002	0.0009	0	0.457	0.08813	T	0.861	0.03399	T	0.001	0.07471	B	0.004	0.10090	B	0.000178	0.48594	D	0.267804	0.919978	0.27316	N	2.005	0.54552	M	0.59	0.53943	T	-0.8	0.22078	N	0.221	0.32259	-1.0328	0.19554	T	0.114	0.40627	T	10	0.010758162	0.00238	T	0.008747	0.23099	T	0.100	0.28662	.	.	0.40146981186	0.39757	0.23616923367470719	0.23531	.	.	0.338232666254	0.16173	T	0.19352	0.54902	T	-0.482848	0.00712	T	-0.639205	0.09727	T	0.0248557894728998	0.01253	T	0.519848	0.16911	T	0.09641775	0.22709	0.10371094	0.24891	0.09641775	0.22709	0.10371094	0.24890	-5.646	0.43210	T	0.13696930988507727	0.15028	0.093	0.14979	B	.;.	.;.	1.271380	0.16702	12.71	0.38938383314295522	0.02657	0.60756	0.31287	D	AEFBHCI	0.321532	0.42430	N	-0.147996598848341	0.35321	2.027234	0.0249293538298909	0.40875	2.446496	0.99885196250801	0.37823	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.53	5.53	0.82530	3.020000	0.49326	4.907000	0.45915	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.754000	0.35928	0.1311:0.726:0.1429:0.0	11.387	0.49032	780	0.47616	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1652.98	40	chr9	14784400	.	C	T	1652.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.066;DP=818;ExcessHet=0.0000;FS=2.367;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=-8.340e-01;SOR=0.492	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1328	20	0	1	0
chr9	14801663	14801663	A	T	exonic	FREM1	.	nonsynonymous SNV	FREM1:NM_001379081:exon20:c.T3683A:p.L1228H	Bifid nose with or without anorectal and renal anomalies;Manitoba oculotrichoanal syndrome, Autosomal recessive;Trigonocephaly 2, Autosomal dominant	.	1	1517	4	0	0	4	0.00131666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.007	B	0.021	B	0.001	N	1.000	D	2.25	M	1.58	T	-1.036	T	0.090	T	0.536	2.051	12.81	3.14	0.368	2.001	11.515	0.125	0.0133595662315	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1400525559	6.185e-06	6.157e-06	5.475e-06	6.902e-06	0.0003	2.91e-06	2.11e-06	6.101e-05	2.525e-05	0	0	0	0	0	0.0003	4.522e-06	3.324e-05	0	6.57e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.052	0.39097	T	0.051	0.47828	T	0.007	0.14184	B	0.021	0.19346	B	0.001242	0.39669	N	0.250325	0.981406	0.39773	D	2.075	0.57047	M	1.58	0.29085	T	-1.01	0.26639	N	0.301	0.38541	-1.0358	0.18606	T	0.090	0.34436	T	10	0.12660825	0.24070	T	0.01336	0.32703	T	0.125	0.34456	0.43	0.47843	0.134241683229	0.13084	0.4622721992036321	0.46145	.	.	0.451329767704	0.32126	T	0.059936	0.31251	T	-0.105515	0.35509	T	-0.389341	0.34627	T	0.544181168079376	0.34260	D	0.613939	0.23413	T	0.22260411	0.44863	0.24550927	0.50041	0.22260411	0.44863	0.24550927	0.50039	-4.176	0.26403	T	0.22057287760708366	0.29736	0.100	0.17146	B	.;.	.;.	1.440709	0.18602	13.83	0.94368066214564539	0.24731	0.82376	0.41613	D	AEFBI	0.209932	0.33588	N	-0.195753160428888	0.33311	1.888398	-0.106733011461343	0.35118	2.027958	0.338196669756765	0.19556	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.51	3.14	0.35196	2.264000	0.42959	2.459000	0.32846	0.691000	0.84096	0.996000	0.39380	0.999000	0.35428	0.954000	0.50415	0.6944:0.3056:0.0:0.0	11.515	0.49766	838	0.37812	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1058.98	35	chr9	14801663	.	A	T	1058.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.041e+00;DP=789;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.31;ReadPosRankSum=0.152;SOR=0.605	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1238	20	0	1	0
chr9	14819330	14819330	C	T	exonic	FREM1	.	nonsynonymous SNV	FREM1:NM_001379081:exon14:c.G2450A:p.R817Q	Bifid nose with or without anorectal and renal anomalies;Manitoba oculotrichoanal syndrome, Autosomal recessive;Trigonocephaly 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	901649	Oculotrichoanal_syndrome|Trigonocephaly_2|BNAR_syndrome|not_provided	MONDO:MONDO:0009560,MedGen:C1855425,OMIM:248450,Orphanet:2717|MONDO:MONDO:0013774,MedGen:C3280974,OMIM:614485,Orphanet:3366|MONDO:MONDO:0012165,MedGen:C2750433,OMIM:608980,Orphanet:217266|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.63	T	0.002	B	0.001	B	0.002	N	0.999	N	-1.725	N	1.86	T	-0.987	T	0.013	T	0.057	-0.446	1.930	3.52	0.475	1.565	3.245	0.065	0.00688707000834	0.0002	0.000199681	0.0002	0	0.0005	0	0	0.0003	0.0011	0	0.0001811	28	154602	rs200495440	0.0001	0.0001	0.0001	0.0001	0.0004	0.0001	0.0001	0.0003	0.0002	0	0.0004	0.0047	5.039e-05	0	0	3.868e-05	0.0004	3.478e-05	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	8.713e-05	5.278e-05	2.833e-05	2.406e-05	0	0.0002	0.0040	0	0	0	7.351e-05	0	0	0.95	0.02146	T	0.75	0.04807	T	0.002	0.09854	B	0.001	0.04355	B	0.002279	0.36887	N	0.334638	1	0.08975	N	-1.475	0.00530	N	1.86	0.24285	T	0.56	0.02680	N	0.057	0.06059	-0.9868	0.33396	T	0.013	0.04890	T	10	0.0051345825	0.00111	T	0.006887	0.18233	T	0.065	0.18881	.	.	0.202086224978	0.19791	0.23678240275522044	0.23593	.	.	0.202627420425	0.00537	T	0.032119	0.22347	T	-0.601328	0.00143	T	-0.779576	0.02466	T	0.0172645698358052	0.00468	T	0.69823	0.30825	T	0.018402983	0.00361	0.027829597	0.00966	0.018402983	0.00361	0.027829597	0.00966	-5.192	0.38860	T	0.05973637893199889	0.01594	0.069	0.03231	B	.;.	.;.	0.356926	0.07298	3.906	0.48709830075915678	0.04087	0.02258	0.06533	N	AEFBI	0.046612	0.07758	N	-0.999623590294994	0.08612	0.404448	-0.820096600458647	0.14008	0.7297653	0.0379390555732823	0.14322	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.86	3.52	0.39415	1.477000	0.35039	-0.413000	0.09334	-0.190000	0.09434	0.979000	0.35152	0.000000	0.08366	0.001000	0.02609	0.1376:0.0777:0.1435:0.6412	3.245	0.06394	796	0.45353	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	892.98	33	chr9	14819330	.	C	T	892.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.509;DP=780;ExcessHet=0.0000;FS=1.776;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.26;ReadPosRankSum=0.335;SOR=0.984	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1059	20	0	1	0
chr9	14851532	14851532	C	T	exonic	FREM1	.	nonsynonymous SNV	FREM1:NM_001370060:exon6:c.G931A:p.V311M	Bifid nose with or without anorectal and renal anomalies;Manitoba oculotrichoanal syndrome, Autosomal recessive;Trigonocephaly 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.0	B	0.0	B	0.000	N	1.000	N	-2.24	N	3.06	T	-0.957	T	0.005	T	0.059	0.402	6.184	4.91	1.134	2.631	8.092	0.113	0.0026774027307	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs767762974	6.842e-06	6.841e-06	9.53e-06	4.126e-06	8.961e-05	3.46e-06	2.52e-06	2.985e-05	1.804e-05	8.961e-05	8.944e-05	0	0	0	0	2.698e-06	0	0	3.285e-05	3.283e-05	1.285e-05	5.38e-05	0.0002	1.261e-05	7.98e-06	5.286e-05	2.835e-05	4.826e-05	0	0.0002	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000023	0.55875	N	0.231431	0.999999	0.08975	N	-2.43	0.00068	N	3.06	0.08634	T	2.12	0.00355	N	0.183	0.19861	-0.9568	0.39771	T	0.005	0.01725	T	10	0.05104646	0.04926	T	0.002677	0.05492	T	0.113	0.31778	0.474	0.55020	0.0551355673512	0.04727	0.3489141938685681	0.34805	.	.	0.255672633648	0.04388	T	0.079262	0.36088	T	-0.485007	0.00692	T	-0.758608	0.03163	T	0.18569540977478	0.19587	T	0.146285	0.01203	T	0.03357437	0.03603	0.06441317	0.12906	0.03357437	0.03603	0.06441317	0.12905	-3.677	0.18979	T	0.030380326893126988	0.00085	0.048	0.00092	B	.;.	.;.	1.691963	0.21554	15.25	0.76758642592233706	0.11597	0.26573	0.23032	N	AEFBCI	0.091577	0.18548	N	-0.725676034670977	0.15302	0.7699901	-0.388020362233176	0.25352	1.393742	0.949555765959101	0.27852	0.549168	0.22868	0	0.573888	0.26702	0	0.618467	0.43123	0	0.616125	0.45549	0	.	.	6.11	4.91	0.63897	2.606000	0.45956	0.151000	0.15292	-0.108000	0.15293	1.000000	0.71638	0.038000	0.21505	0.984000	0.60418	0.1208:0.0651:0.0:0.8141	8.092	0.29969	832	0.38914	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1600.98	34	chr9	14851532	.	C	T	1600.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.51;DP=826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=1.40;SOR=0.675	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1260	20	0	1	0
chr9	14859264	14859264	C	T	exonic	FREM1	.	nonsynonymous SNV	FREM1:NM_001370060:exon4:c.G550A:p.A184T	Bifid nose with or without anorectal and renal anomalies;Manitoba oculotrichoanal syndrome, Autosomal recessive;Trigonocephaly 2, Autosomal dominant	.	1	1520	1	0	0	1	0.000328839	.	.	318313	not_provided|Inborn_genetic_diseases|Trigonocephaly_2|Oculotrichoanal_syndrome|BNAR_syndrome	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013774,MedGen:C3280974,OMIM:614485,Orphanet:3366|MONDO:MONDO:0009560,MedGen:C1855425,OMIM:248450,Orphanet:2717|MONDO:MONDO:0012165,MedGen:C2750433,OMIM:608980,Orphanet:217266	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.4	T	0.786	P	0.22	B	0.000	D	1.000	D	2.42	M	2.8	T	-1.085	T	0.037	T	0.432	3.166	16.59	5.82	2.756	3.491	15.665	0.120	0.0153828465344	0.0002	.	0.0006	0	0	0.0005	0.0008	0.0010	0.0011	6.155e-05	0.0005304	82	154602	rs199682518	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0	0	0.0019	0.0001	0.0012	0.0002	0.0001	0.0006	1.16e-05	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	8.368e-05	2.413e-05	0	0	0.0029	0.0006	0.0006	0	8.819e-05	0.0005	0	0.108	0.29420	T	0.011	0.64786	D	0.786	0.44460	P	0.22	0.37792	B	0.000000	0.84330	D	0.047749	0.999827	0.49512	D	2.38	0.68558	M	2.8	0.11082	T	-1.68	0.40082	N	0.296	0.33469	-1.0849	0.06426	T	0.037	0.15770	T	10	0.03746277	0.02103	T	0.015383	0.36078	T	0.120	0.33359	.	.	0.269111216191	0.26524	0.62217547476261	0.62150	.	.	0.44400665164	0.31125	T	0.175242	0.52476	T	-0.38959	0.02707	T	-0.443362	0.28432	T	0.0469973733902836	0.04964	T	0.871113	0.57669	D	0.14854574	0.33907	0.17432557	0.39820	0.14854574	0.33906	0.17432557	0.39819	-3.249	0.13088	T	0.2586592423669196	0.34946	0.096	0.15430	B	.;.	.;.	3.584640	0.50557	23.0	0.99830687133537177	0.91284	0.89114	0.49387	D	AEFBCI	0.638893	0.61715	D	0.288909971673864	0.55585	3.722618	0.332381288179942	0.57450	3.910969	0.999996711700119	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.82	5.82	0.92740	3.557000	0.53487	4.899000	0.45841	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.947000	0.49155	0.1377:0.8623:0.0:0.0	15.665	0.76976	825	0.40060	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1839.98	37	chr9	14859264	.	C	T	1839.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.580e-01;DP=1094;ExcessHet=0.0000;FS=4.034;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=-1.022e+00;SOR=0.427	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,120,1800	20	0	1	0
chr9	15211306	15211306	C	T	exonic	TTC39B	.	nonsynonymous SNV	TTC39B:NM_001168341:exon3:c.G367A:p.G123S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.999	D	0.918	D	0.000	D	1.000	D	2.36	M	1.0	T	-0.586	T	0.275	T	0.563	5.222	33	5.78	2.742	7.488	19.607	0.100	0.0421623752176	7.7e-05	.	1.7e-05	9.647e-05	0	0	0	1.523e-05	0	0	1.94e-05	3	154602	rs149019264	1.745e-05	1.847e-05	1.527e-05	1.965e-05	2.091e-05	1.198e-05	1.012e-05	1.392e-05	1.163e-05	0	0	0	0	1.884e-05	0	2.091e-05	1.688e-05	0	2.628e-05	2.627e-05	3.854e-05	1.345e-05	4.826e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	2.94e-05	0	0	0.013	0.54683	D	0.072	0.43531	T	.	.	.	.	.	.	0.000002	0.62929	D	0.059222	1	0.81001	D	2.695	0.78878	M	1.0	0.41392	T	-0.42	0.14978	N	0.564	0.59816	-0.5860	0.65380	T	0.275	0.64629	T	10	0.44618478	0.58411	T	0.042162	0.60319	D	0.100	0.28662	.	.	0.38342384377	0.37955	0.6559990771203544	0.65535	0.303624687715	0.32687	0.587440729141	0.51133	T	0.021804	0.16921	T	-0.130186	0.31467	T	-0.238876	0.50907	T	0.502900736840678	0.32735	D	0.962104	0.85685	D	0.1812165	0.39280	0.19688584	0.43442	0.1812165	0.39280	0.19688584	0.43441	-7.651	0.58813	D	.	.	0.633	0.73041	P	.;.;.;.;.	.;.;.;.;.	5.090261	0.84994	28.5	0.99892371659028978	0.96589	0.96376	0.68836	D	AEFDGBHCI	0.908754	0.86448	D	0.659926063580848	0.77011	6.593626	0.679631119304114	0.80834	7.387928	1.0	0.98316	0.743674	0.98306	0	0.61073	0.52368	0	0.601832	0.32385	0	0.584449	0.35598	0	.	.	5.78	5.78	0.91418	7.876000	0.85623	7.713000	0.66906	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.665000	0.33109	0.0:1.0:0.0:0.0	19.607	0.95579	859	0.33891	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1215.98	37	chr9	15211306	.	C	T	1215.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=802;ExcessHet=0.0000;FS=1.497;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=-1.756e+00;SOR=0.560	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1289	20	0	1	0
chr9	15447193	15447193	T	G	exonic	SNAPC3	.	nonsynonymous SNV	SNAPC3:NM_001039697:exon5:c.T681G:p.I227M	.	.	435	1083	4	0	0	4	0.00184332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.999	D	0.959	D	0.000	D	0.993	D	1.405	L	0.94	T	-1.008	T	0.101	T	0.263	3.378	17.39	0.9	-0.080	-0.133	4.463	0.119	0.0074916883307	0.0068	0.00119808	0.0061	0.0019	0.0017	0	0.0048	0.0097	0	0.0013	0.0058796	909	154602	rs41311434	0.0078	0.0078	0.0081	0.0075	0.0092	0.0077	0.0076	0.0090	0.0090	0.0010	0.0025	0.0067	0	0.0052	0.0038	0.0092	0.0072	0.0018	0.0050	0.0050	0.0052	0.0047	0.0082	0.0047	0.0046	0.0076	0.0074	0.0016	0	0.0031	0.0049	0.0002	0.0051	0.0034	0.0082	0.0043	0.0017	0.015	0.61437	D	0.043	0.49942	D	0.999	0.77913	D	0.959	0.70163	D	0.000001	0.84330	D	0.054861	0.992925	0.41783	D	1.775	0.45938	L	0.94	0.43672	T	-1.42	0.35991	N	0.354	0.43803	-1.0081	0.27510	T	0.101	0.37468	T	10	0.010859907	0.00240	T	0.007492	0.19872	T	0.119	0.33137	.	.	0.575045364607	0.57173	0.5656233446355885	0.56489	0.0501188400719	0.05501	0.543514668941	0.44942	T	0.014628	0.15839	T	-0.512292	0.00487	T	-0.498261	0.22528	T	0.0267628031153573	0.01511	T	0.817618	0.51273	T	0.19270617	0.40950	0.21062031	0.45456	0.19270617	0.40950	0.21062031	0.45455	-7.256	0.55882	T	.	.	0.086	0.10594	B	.;.;.	.;.;.	2.243941	0.28660	17.87	0.99549664380186964	0.71086	0.76550	0.37552	D	AEFBI	0.148454	0.27234	N	0.144649808540918	0.48559	3.066699	0.100204482666835	0.44560	2.735372	0.0415969301697813	0.14490	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.99	0.9	0.18410	-0.096000	0.11027	-0.295000	0.10161	0.665000	0.62972	0.938000	0.32564	0.164000	0.23286	0.995000	0.73285	0.2208:0.1911:0.0:0.588	4.463	0.11097	559	0.71409	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3030.11	35	chr9	15447193	.	T	G	3030.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.11;DP=889;ExcessHet=0.1072;FS=1.597;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=0.413;SOR=0.832	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1284	19	0	2	0
chr9	15474143	15474143	C	G	exonic	PSIP1	.	nonsynonymous SNV	PSIP1:NM_021144:exon8:c.G724C:p.D242H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.898	P	0.452	P	0.038	N	0.756	D	0.895	L	0.79	T	-0.777	T	0.132	T	0.304	2.998	16.00	5.53	2.765	4.757	19.422	0.065	0.0224003459677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.091	0.40110	T	0.898	0.49442	P	0.351	0.46163	B	0.038159	0.24318	N	0.475111	0.755905	0.33982	D	0.695	0.17993	N	0.79	0.50192	T	-1.99	0.45949	N	0.188	0.21839	-0.7774	0.56448	T	0.132	0.44366	T	10	0.18326071	0.33644	T	0.022	0.45285	T	0.065	0.18881	0.159	0.06287	0.364535869594	0.36064	0.29249878257169826	0.29162	0.269757464717	0.29498	0.60105150938	0.53052	T	0.109663	0.42373	T	-0.0835784	0.39131	T	-0.357831	0.38303	T	0.518276408606852	0.33302	D	0.935206	0.75689	D	0.20306064	0.42371	0.2658078	0.52418	0.20306064	0.42371	0.2658078	0.52417	-5.877	0.45562	T	.	.	0.368	0.61408	A	.;.;.;.;.	.;.;.;.;.	4.505470	0.70502	25.5	0.99132921662335005	0.53302	0.95848	0.66412	D	AEFBI	0.656527	0.62848	D	0.387376137206191	0.60738	4.266039	0.483686528529731	0.66911	5.013855	0.999999935485469	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.53	5.53	0.82530	4.889000	0.62862	7.582000	0.60992	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.422	0.94717	520	0.74355	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	104.98	34	chr9	15474143	.	C	G	104.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.458e+00;DP=840;ExcessHet=0.0000;FS=47.045;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=1.89;SOR=5.783	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1104	20	0	1	0
chr9	15474146	15474146	C	G	exonic	PSIP1	.	nonsynonymous SNV	PSIP1:NM_021144:exon8:c.G721C:p.E241Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.827	P	0.342	B	0.007	N	0.969	D	1.845	L	0.6	T	-0.803	T	0.162	T	0.18	3.769	19.14	4.63	1.482	4.757	14.256	0.055	0.0307989120078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.57480	D	0.159	0.37173	T	0.598	0.45966	P	0.188	0.42471	B	0.006885	0.31732	N	0.351121	0.968878	0.38690	D	1.1	0.28011	L	0.53	0.55090	T	-1.72	0.40850	N	0.289	0.33796	-0.8028	0.54979	T	0.162	0.49781	T	10	0.19586116	0.35455	T	0.030799	0.53030	D	0.055	0.15663	0.164	0.06842	0.496043933117	0.49239	0.30839401287200624	0.30752	0.591894902042	0.54610	0.668368160725	0.62605	T	0.196233	0.55255	T	-0.111883	0.34456	T	-0.398488	0.33560	T	0.840290904045105	0.49351	D	0.910909	0.68443	D	0.18831635	0.40325	0.0984456	0.23471	0.18831635	0.40324	0.0984456	0.23470	-4.935	0.41130	T	.	.	0.234	0.51350	B	.;.;.;.;.	.;.;.;.;.	4.312338	0.65933	24.9	0.99778794364604051	0.86606	0.94905	0.62737	D	AEFBI	0.600122	0.59287	D	0.264884555435355	0.54378	3.603618	0.330768162559929	0.57356	3.900985	0.999744941322929	0.42466	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.53	4.63	0.57175	4.889000	0.62862	7.603000	0.61629	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9273:0.0:0.0727	14.256	0.65601	520	0.74355	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	98.98	68	chr9	15474146	.	C	G	98.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.693e+00;DP=983;ExcessHet=0.0000;FS=46.955;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.83;ReadPosRankSum=2.45;SOR=5.783	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1104	20	0	1	0
chr9	16738425	16738425	T	C	exonic	BNC2	.	nonsynonymous SNV	BNC2:NM_017637:exon2:c.A64G:p.S22G,	.	.	.	.	.	.	.	.	.	.	.	2095540	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.91	T	0.137	B	0.015	B	0.706	N	1.000	N	0	N	3.83	T	-0.926	T	0.005	T	0.114	1.882	12.25	1.16	0.225	-0.321	2.494	0.029	0.00234129457469	0.0008	0.000399361	0.0001	0.0017	0	0	0	0	0	0	0.0001229	19	154602	rs79395563	4.789e-05	4.788e-05	5.309e-05	4.263e-05	0.0017	3.86e-05	3.54e-05	0.0013	0.0012	0.0017	0	0	0	0	0.0007	0	0.0001	0	0.0003	0.0003	0.0004	0.0003	0.0013	0.0003	0.0002	0.0010	0.0009	0.0013	0	0	0	0	0	0	0	0.0005	0	0.712	0.04020	T	0.777	0.04372	T	0.043	0.21573	B	0.007	0.12992	B	0.705936	0.10054	N	0.836981	1	0.08975	N	0	0.06538	N	3.83	0.03702	T	-0.23	0.15578	N	0.159	0.19190	-0.9259	0.44730	T	0.005	0.01578	T	10	0.0037554502	0.00070	T	0.002341	0.04535	T	0.029	0.06676	.	.	0.043077524339	0.03247	0.04027998661345282	0.03973	0.0241015122764	0.02450	0.264336109161	0.05419	T	0.044627	0.26872	T	-0.650771	0.00072	T	-0.726578	0.04484	T	0.00617536609023547	0.00068	T	0.579042	0.22137	T	0.0328609	0.03392	0.030576633	0.01530	0.0328609	0.03391	0.030576633	0.01530	-4.015	0.24027	T	.	.	0.070	0.03515	B	.;.	.;.	0.530655	0.08992	5.775	0.80046989221171383	0.13020	0.02249	0.06516	N	AEFBI	0.060083	0.11394	N	-1.08042574976096	0.07005	0.324108	-1.02496449833351	0.09238	0.4584467	0.809185866722537	0.24324	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	3.6	1.16	0.19936	-0.334000	0.07927	0.105000	0.14702	0.605000	0.46263	0.000000	0.06391	0.004000	0.18990	0.995000	0.73285	0.2346:0.1344:0.0:0.631	2.494	0.04335	727	0.54702	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	789.98	41	chr9	16738425	.	T	C	789.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.00;DP=890;ExcessHet=0.0000;FS=2.075;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=0.911;SOR=0.439	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr9	17394898	17394898	G	A	exonic	CNTLN	.	nonsynonymous SNV	CNTLN:NM_001365029:exon15:c.G2444A:p.R815K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.774	P	0.296	B	.	.	1.000	N	1.95	M	2.54	T	-1.054	T	0.034	T	0.072	-0.839	0.576	4.11	0.856	1.083	2.168	0.051	0.00555132211887	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.30800	T	0.959	0.02555	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	2.43	0.70455	M	2.28	0.17271	T	-0.23	0.10656	N	0.063	0.03502	-1.0542	0.13251	T	0.034	0.14509	T	9	0.048118144	0.04220	T	0.005551	0.14319	T	0.051	0.14325	0.175	0.08135	0.0138822411134	0.00435	0.08290319736704431	0.08225	.	.	0.254007339478	0.04202	T	.	.	.	-0.295442	0.09096	T	-0.662159	0.08121	T	0.156047766135084	0.17575	T	0.545245	0.18642	T	.	.	.	.	.	.	.	.	-2.256	0.04321	T	.	.	0.087	0.11317	B	.	.	0.662919	0.10314	7.044	0.82669416985350519	0.14313	0.11488	0.16667	N	AEFBI	0.197634	0.32454	N	-0.557201951319926	0.20259	1.066638	-0.555495126006756	0.20660	1.114103	0.999914629383495	0.45857	0.730579	0.87903	0	0.573888	0.26702	0	0.749866	0.98131	0	0.635551	0.53088	0	.	.	5.93	4.11	0.47350	1.357000	0.33694	4.081000	0.41738	0.676000	0.76740	0.006000	0.17386	1.000000	0.68203	0.450000	0.27895	0.2189:0.1324:0.5118:0.1369	2.168	0.03608	651	0.62880	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	55.98	42	chr9	17394898	.	G	A	55.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.235e+00;DP=994;ExcessHet=0.0000;FS=82.669;InbreedingCoeff=-0.0247;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.48;ReadPosRankSum=0.408;SOR=6.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,108,1620	20	0	1	0
chr9	17394900	17394900	T	C	exonic	CNTLN	.	nonsynonymous SNV	CNTLN:NM_001365029:exon15:c.T2446C:p.S816P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.911	P	0.563	P	.	.	1.000	N	1.7	L	2.35	T	-1.053	T	0.050	T	0.18	1.264	10.12	0.064	0.126	-0.281	2.882	0.013	0.00857619360364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.916e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.41096	D	0.184	0.29056	T	0.023	0.18885	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	2.09	0.20122	T	-1.05	0.27463	N	0.166	0.17553	-1.0529	0.13601	T	0.050	0.21261	T	9	0.062128216	0.07898	T	0.008576	0.22680	T	0.013	0.01715	0.124	0.03018	0.0297737177859	0.01360	0.0983252962362964	0.09763	.	.	0.307184994221	0.11482	T	.	.	.	-0.237601	0.15655	T	-0.579074	0.14628	T	0.179341226816177	0.19193	T	0.419458	0.11115	T	.	.	.	.	.	.	.	.	-4.872	0.35419	T	.	.	0.083	0.09288	B	.	.	1.111941	0.14971	11.48	0.99448444149393045	0.65122	0.14148	0.18248	N	AEFBI	0.332060	0.43159	N	-0.652069549857985	0.17401	0.8950572	-0.713489754841712	0.16625	0.8803607	0.999376316363295	0.39355	0.730579	0.87903	0	0.573888	0.26702	0	0.749866	0.98131	0	0.635551	0.53088	0	.	.	5.93	0.064	0.13665	-0.219000	0.09233	0.156000	0.15349	0.665000	0.62972	0.000000	0.06391	0.714000	0.26310	0.442000	0.27716	0.1976:0.0683:0.2075:0.5266	2.882	0.05302	651	0.62880	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	141.71	42	chr9	17394900	.	T	C	141.71	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.459e+00;DP=1312;ExcessHet=0.3300;FS=102.575;InbreedingCoeff=-0.0775;MLEAC=3;MLEAF=0.071;MQ=59.98;MQRankSum=0.00;QD=0.44;ReadPosRankSum=0.418;SOR=9.190	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,108,1620	18	0	3	0
chr9	17394996	17394996	C	T	exonic	CNTLN	.	nonsynonymous SNV	CNTLN:NM_001365029:exon15:c.C2542T:p.H848Y	.	.	426	1078	15	3	0	21	0.0096463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.991	D	0.73	P	.	.	1.000	D	1.95	M	2.47	T	-1.120	T	0.066	T	0.436	3.246	16.89	5.93	2.803	4.795	19.942	0.097	.	0.0057	0.00359425	0.0058	0.0004	0.0038	0	0.0127	0.0079	0.0089	0.0024	0.0058279	901	154602	rs144166918	0.0068	0.0068	0.0069	0.0066	0.0071	0.0067	0.0066	0.0069	0.0069	0.0009	0.0051	0.0203	2.519e-05	0.0116	0.0061	0.0071	0.0059	0.0031	0.0052	0.0052	0.0050	0.0054	0.0069	0.0049	0.0048	0.0059	0.0055	0.0007	0	0.0069	0.0202	0	0.0144	0.0136	0.0062	0.0038	0.0017	0.014	0.53172	D	0.044	0.49663	D	0.264	0.31602	B	0.055	0.25995	B	.	.	.	.	0.95295	0.37808	D	2.43	0.70455	M	2.21	0.18414	T	-1.33	0.33197	N	0.436	0.47487	-1.1197	0.02350	T	0.066	0.27364	T	9	0.005052775	0.00109	T	.	.	.	0.097	0.27909	.	.	0.0611884634855	0.05136	0.08164205980192901	0.08099	.	.	0.426689594984	0.28755	T	.	.	.	-0.404872	0.02151	T	-0.348657	0.39359	T	0.0438886258736104	0.04401	T	0.811819	0.46320	T	.	.	.	.	.	.	.	.	-5.253	0.39476	T	.	.	0.175	0.38281	B	.	.	4.184124	0.63012	24.5	0.99773894908934191	0.86174	0.93785	0.59184	D	AEFBI	0.523727	0.54721	D	0.423311050390687	0.62706	4.491064	0.530791572137921	0.70071	5.451773	0.99999999363096	0.74766	0.730579	0.87903	0	0.573888	0.26702	0	0.749866	0.98131	0	0.635551	0.53088	0	.	.	5.93	5.93	0.95888	6.601000	0.74015	7.731000	0.67736	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.942	0.97166	651	0.62880	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1090.98	42	chr9	17394996	.	C	T	1090.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.271e+00;DP=1133;ExcessHet=0.0000;FS=5.629;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=-1.181e+00;SOR=0.288	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,108,1620	20	0	1	0
chr9	17415849	17415849	A	G	exonic	CNTLN	.	nonsynonymous SNV	CNTLN:NM_001365029:exon17:c.A2855G:p.Q952R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.557	P	0.299	B	.	.	0.994	N	2.075	M	2.53	T	-1.074	T	0.049	T	0.185	0.674	7.609	3.12	1.947	0.380	8.279	0.040	0.00331855763938	0.0037	0.000199681	0.0033	0.0006	0.0004	0.0001	0.0012	0.0054	0.0045	0.0012	0.0033311	515	154602	rs41268971	0.0045	0.0046	0.0046	0.0045	0.0055	0.0044	0.0044	0.0054	0.0054	0.0006	0.0006	0.0016	0.0001	0.0015	0	0.0055	0.0033	0.0011	0.0027	0.0027	0.0031	0.0023	0.0051	0.0025	0.0024	0.0047	0.0045	0.0009	0	0.0007	0.0023	0	0.0009	0	0.0051	0.0014	0.0004	0.049	0.39820	D	0.33	0.18560	T	0.557	0.38282	P	0.224	0.37970	B	.	.	.	.	0.999972	0.18612	N	2.24	0.63355	M	2.26	0.17596	T	-0.31	0.12099	N	0.196	0.21580	-1.0736	0.08639	T	0.049	0.20829	T	9	0.006874472	0.00156	T	0.003319	0.07390	T	0.040	0.10527	.	.	0.0401082797425	0.02173	0.07315621065529385	0.07252	.	.	0.340176820755	0.16465	T	.	.	.	-0.568721	0.00225	T	-0.578674	0.14663	T	0.0296378005295992	0.01933	T	0.608739	0.23025	T	.	.	.	.	.	.	.	.	-3.526	0.16798	T	.	.	0.085	0.10014	B	.	.	1.836113	0.23329	15.97	0.98034917253859333	0.37743	0.09860	0.15519	N	AEFI	0.090371	0.18312	N	-0.329407936429418	0.28035	1.543073	-0.367065973227395	0.25986	1.433	0.176133071420884	0.17806	0.638212	0.43195	0	0.573888	0.26702	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	4.36	3.12	0.34986	0.502000	0.22302	4.094000	0.41823	0.756000	0.94297	0.014000	0.18986	0.937000	0.28687	0.066000	0.16387	0.823:0.0:0.0:0.177	8.279	0.31052	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	543.98	34	chr9	17415849	.	A	G	543.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.757e+00;DP=759;ExcessHet=0.0000;FS=3.317;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.77;ReadPosRankSum=1.84;SOR=0.633	GT:AD:DP:GQ:PL	0/1:42,28:70:99:558,0,1155	20	0	1	0
chr9	17457641	17457641	C	T	exonic	CNTLN	.	nonsynonymous SNV	CNTLN:NM_001365029:exon19:c.C3229T:p.R1077W	.	.	444	1073	5	0	0	5	0.0023245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.731	P	.	.	1.000	N	1.61	L	2.44	T	-1.060	T	0.087	T	0.322	3.296	17.07	4.97	2.696	2.955	14.954	0.087	0.0289274450208	0.0002	0.000199681	0.0001	0.0003	0.0002	0.0001	0.0003	9.015e-05	0	0.0002	0.0001229	19	154602	rs201619496	7.365e-05	9.371e-05	6.108e-05	8.638e-05	0.0005	6.181e-05	5.772e-05	0.0001	7.874e-05	9.868e-05	7.478e-05	0	0.0001	9.848e-05	0.0005	6.678e-05	1.753e-05	0.0001	8.56e-05	8.535e-05	9.016e-05	8.082e-05	0.0002	4.967e-05	3.97e-05	3.769e-05	2.58e-05	9.642e-05	0	6.569e-05	0	0.0002	0	0	8.839e-05	0.0005	0	0.006	0.61437	D	0.007	0.69154	D	0.996	0.68779	D	0.555	0.49371	P	.	.	.	.	0.99742	0.22668	N	2.08	0.57402	M	2.18	0.18875	T	-2.12	0.48184	N	0.46	0.49692	-1.0600	0.11756	T	0.087	0.33802	T	9	0.16804591	0.31334	T	0.028927	0.51526	D	0.087	0.25287	.	.	0.181679512989	0.17746	0.09889706958721296	0.09820	.	.	0.224783584476	0.01604	T	.	.	.	-0.36083	0.04084	T	-0.461249	0.26462	T	0.129284843596376	0.15315	T	0.871813	0.57812	D	.	.	.	.	.	.	.	.	-6.777	0.52388	T	.	.	0.102	0.18122	B	.	.	4.051830	0.60059	24.2	0.99873186114976931	0.95076	0.96348	0.68700	D	AEFI	0.445716	0.50208	N	0.529261363947518	0.68830	5.271253	0.538059425540693	0.70571	5.524829	0.981360795300168	0.30253	0.638212	0.43195	0	0.573888	0.26702	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	4.97	4.97	0.65419	2.397000	0.44131	0.878000	0.22371	0.549000	0.26987	0.227000	0.24611	0.468000	0.25038	0.871000	0.41478	0.1517:0.8483:0.0:0.0	14.954	0.70744	871	0.31377	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	908.98	33	chr9	17457641	.	C	T	908.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.520e-01;DP=745;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.77;ReadPosRankSum=0.893;SOR=0.613	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1108	20	0	1	0
chr9	18681818	18681818	G	C	exonic	ADAMTSL1	.	nonsynonymous SNV	ADAMTSL1:NM_001040272:exon12:c.G1348C:p.V450L	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.999	D	0.988	D	.	.	1.000	D	2.605	M	-0.1	T	-0.141	T	0.486	T	0.771	5.333	34	5.71	2.861	9.710	20.224	0.387	0.0361281954163	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	3.425e-06	3.42e-06	5.453e-06	1.377e-06	0.0002	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0.0002	3.602e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.007	0.69154	D	0.999	0.77913	D	0.988	0.77976	D	.	.	.	.	0.999999	0.58761	D	2.865	0.83145	M	-0.1	0.64264	T	-2.44	0.53420	N	0.566	0.64478	-0.1409	0.79142	T	0.486	0.80441	T	9	0.5345307	0.63372	D	0.036128	0.56792	D	0.387	0.70358	0.512	0.61000	0.75988825194	0.75770	0.30900537794700483	0.30813	0.379897150079	0.39369	0.769696354866	0.77379	T	0.156225	0.49831	T	0.196734	0.73588	D	0.0448178	0.73243	D	0.922273879868052	0.58234	D	0.945705	0.86792	D	0.2958976	0.52535	0.31715703	0.57692	0.2958976	0.52535	0.31715703	0.57691	-9.777	0.72565	D	.	.	0.499	0.71754	A	.;.;.	.;.;.	5.016418	0.83334	28.0	0.99846605756839324	0.92663	0.99404	0.95594	D	AEFBI	0.928744	0.91342	D	0.951752899235159	0.94055	12.469	0.930976503773201	0.96786	15.14414	0.999999999999989	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.71	5.71	0.89031	9.902000	0.98627	11.797000	0.96542	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	20.224	0.98338	791	0.46100	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1056.98	40	chr9	18681818	.	G	C	1056.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.502e+00;DP=850;ExcessHet=0.0000;FS=9.174;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=-1.830e-01;SOR=0.213	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1144	20	0	1	0
chr9	18775809	18775809	G	A	exonic	ADAMTSL1	.	nonsynonymous SNV	ADAMTSL1:NM_001040272:exon18:c.G2464A:p.G822S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.999	D	0.889	P	1.000	U	1.000	D	2.525	M	-0.1	T	-0.422	T	0.455	T	0.522	3.203	16.73	5.81	2.736	6.547	15.187	0.355	0.0464684171395	.	.	7.733e-05	0.0001	0	0	0	8.655e-05	0	0.0001	5.17e-05	8	154602	rs751667336	1.919e-05	2.121e-05	1.227e-05	2.619e-05	0.0007	1.331e-05	1.146e-05	0.0002	0.0001	0	0	0	0	0	0.0007	1.531e-05	3.318e-05	5.853e-05	2.629e-05	2.627e-05	1.285e-05	4.038e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.414e-05	0	0	0	0	0	0	4.41e-05	0	0	0.003	0.68238	D	0.006	0.70582	D	0.999	0.77913	D	0.889	0.63100	P	1.000000	0.07966	U	1.011930	0.975676	0.39209	D	2.09	0.57893	M	-0.1	0.64264	T	-3.37	0.66665	D	0.653	0.66358	-0.4223	0.71316	T	0.455	0.78761	T	10	0.7771848	0.77555	D	0.046468	0.62471	D	0.355	0.67600	.	.	0.700873026449	0.69828	0.4656688937091794	0.46485	0.382327850379	0.39563	0.562796354294	0.47662	T	0.190909	0.54558	T	-0.108436	0.35027	T	-0.188032	0.55774	T	0.378480264926413	0.28124	T	0.851815	0.53646	D	0.22807057	0.45520	0.3251376	0.58432	0.22807057	0.45520	0.3251376	0.58431	-8.734	0.65968	D	.	.	0.098	0.16054	B	.	.	4.388097	0.67691	25.1	0.9982650930174628	0.90852	0.96878	0.71431	D	AEFDBI	0.742342	0.68599	D	0.63912173166586	0.75668	6.346592	0.563382815474836	0.72332	5.793448	0.9998899615436	0.44867	0.706298	0.61202	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.81	5.81	0.92413	6.667000	0.74293	11.920000	0.99804	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.009000	0.08673	0.0689:0.0:0.9311:0.0	15.187	0.72701	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3233.98	36	chr9	18775809	.	G	A	3233.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.34;DP=928;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=0.301;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1251	20	0	1	0
chr9	18776869	18776869	C	G	exonic	ADAMTSL1	.	nonsynonymous SNV	ADAMTSL1:NM_001040272:exon19:c.C2640G:p.H880Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.024	B	0.013	B	1.000	U	1.000	D	0.16	N	0.09	T	-1.061	T	0.104	T	0.746	0.840	8.392	4.36	1.180	0.900	7.946	0.324	0.0110229371071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.158	0.31629	T	0.024	0.19075	B	0.013	0.16460	B	1.000000	0.07966	U	0.063246	0.623154	0.30762	N	0.565	0.15224	N	0.09	0.61443	T	-2.5	0.54382	D	0.425	0.46462	-1.0610	0.11508	T	0.104	0.38243	T	10	0.17902067	0.33015	T	0.011023	0.28208	T	0.324	0.64624	0.491	0.57732	0.371531589858	0.36766	0.36919469992544085	0.36833	0.0706069507822	0.07910	0.734562337399	0.72173	T	0.039675	0.25271	T	0.0752688	0.61482	D	-0.129658	0.61001	T	0.17303722332641	0.18785	T	0.684832	0.29327	T	0.22672907	0.45359	0.1779977	0.40439	0.22672907	0.45359	0.1779977	0.40438	-7.577	0.58150	D	.	.	0.203	0.42777	B	.	.	1.947636	0.24740	16.51	0.91327647596012895	0.20589	0.88224	0.48057	D	AEFDBI	0.331563	0.43125	N	-0.469790982665711	0.23074	1.236576	-0.290511059595831	0.28410	1.583886	0.998762623798499	0.37623	0.615465	0.37627	0	0.588015	0.36545	0	0.597571	0.31856	0	0.655142	0.61905	0	.	.	5.27	4.36	0.51643	0.934000	0.28510	1.112000	0.24166	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.7221:0.1316:0.1463	7.946	0.29146	884	0.28482	Immunoglobulin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1110.98	55	chr9	18776869	.	C	G	1110.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.676;DP=1288;ExcessHet=0.0000;FS=0.900;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.81;ReadPosRankSum=1.15;SOR=0.547	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	20	0	1	0
chr9	18777735	18777735	A	G	exonic	ADAMTSL1	.	nonsynonymous SNV	ADAMTSL1:NM_001040272:exon19:c.A3506G:p.K1169R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.911	P	0.232	B	0.000	D	1.000	D	0.625	N	-0.01	T	-0.929	T	0.138	T	0.34	2.736	15.11	6.03	2.313	4.257	16.572	0.148	0.0103041815025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.16466	T	0.222	0.25748	T	0.911	0.50336	P	0.232	0.38314	B	0.000082	0.51296	D	0.079697	0.995975	0.42951	D	0.14	0.08730	N	-0.01	0.62762	T	-0.9	0.24244	N	0.422	0.46180	-0.9288	0.44313	T	0.138	0.45583	T	10	0.27076983	0.44610	T	0.010304	0.26676	T	0.148	0.39182	0.454	0.51775	0.583519820621	0.58024	0.5222049530389823	0.52143	0.0685784815088	0.07678	0.789503216743	0.80367	T	0.013775	0.11851	T	-0.061585	0.42659	T	-0.326239	0.41887	T	0.615738868713379	0.37032	D	0.856914	0.54589	D	0.062433157	0.13039	0.1319382	0.31671	0.062433157	0.13038	0.1319382	0.31670	-3.412	0.15218	T	.	.	0.198	0.41992	B	.	.	3.362849	0.46435	22.3	0.9982024971947201	0.90326	0.93397	0.58108	D	AEFBI	0.670490	0.63756	D	0.12506443787088	0.47633	2.986387	0.229882009816073	0.51512	3.333178	0.999983003975917	0.51787	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	4.537000	0.60354	11.239000	0.90365	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	1.0:0.0:0.0:0.0	16.572	0.84472	884	0.28482	Immunoglobulin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1393.98	39	chr9	18777735	.	A	G	1393.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.34;DP=918;ExcessHet=0.0000;FS=2.420;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.81;ReadPosRankSum=0.208;SOR=0.947	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1575	20	0	1	0
chr9	18928627	18928627	G	A	exonic	SAXO1	.	nonsynonymous SNV	SAXO1:NM_001287049:exon4:c.C655T:p.P219S	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.999	D	0.978	D	0.001	D	1.000	D	1.875	L	2.38	T	-1.007	T	0.128	T	0.343	2.731	15.09	4.17	1.304	3.753	13.494	0.238	0.00758459559412	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1238190219	1.368e-06	1.368e-06	2.722e-06	0	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0.0003	0	0	0	0	0	0	0.105	0.29823	T	0.0	0.92824	D	0.999	0.77913	D	0.978	0.74104	D	0.000921	0.41128	D	0.111229	0.989633	0.81001	D	.	.	.	2.38	0.15843	T	-4.72	0.79998	D	0.406	0.44666	-1.0074	0.27727	T	0.128	0.43645	T	10	0.55435383	0.64433	D	0.007585	0.20113	T	0.238	0.54217	0.563	0.68364	0.367425347029	0.36354	0.24961203553158245	0.24875	0.0156375807396	0.01492	0.385217428207	0.22994	T	0.070623	0.34005	T	-0.14965	0.28367	T	-0.452738	0.27393	T	0.968281388282776	0.68191	D	0.786121	0.43953	T	0.17312767	0.38043	0.2613846	0.51916	0.17312767	0.38043	0.2613846	0.51915	-4.285	0.27966	T	.	.	0.137	0.31733	B	.;.;.	.;.;.	2.570595	0.33311	19.30	0.99874144104929397	0.95160	0.90302	0.51370	D	AEFBI	0.377610	0.46132	N	0.37529105997898	0.60084	4.193807	0.29908410472327	0.55485	3.711618	0.99991212502742	0.45857	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.09	4.17	0.48303	3.830000	0.55469	4.559000	0.43834	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.372000	0.26156	0.0:0.0:0.8425:0.1575	13.494	0.60866	787	0.46738	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2446.98	35	chr9	18928627	.	G	A	2446.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.047e+00;DP=975;ExcessHet=0.0000;FS=4.351;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.75;ReadPosRankSum=-8.410e-01;SOR=1.014	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	20	0	1	0
chr9	18928992	18928992	G	A	exonic	SAXO1	.	nonsynonymous SNV	SAXO1:NM_001287049:exon4:c.C290T:p.P97L	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.999	D	0.958	D	0.008	N	1.000	D	2.045	M	2.2	T	-1.036	T	0.090	T	0.381	1.650	11.47	2.26	0.312	4.118	7.330	0.257	0.00986513437411	0.0002	0.000399361	0.0004	9.61e-05	0	0	0	0.0003	0	0.0012	0.000304	47	154602	rs367834317	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0013	0.0013	8.961e-05	0.0001	0	0	7.488e-05	0.0005	0.0001	0.0002	0.0016	0.0002	0.0002	0.0001	0.0002	0.0019	0.0001	0.0001	0.0010	0.0007	7.229e-05	0	0.0001	0	0	0	0.0068	0.0002	0.0005	0.0019	0.014	0.53172	D	0.0	0.92824	D	0.999	0.77913	D	0.958	0.70027	D	0.007599	0.31308	N	0.228608	0.998174	0.81001	D	.	.	.	2.2	0.18570	T	-8.18	0.96794	D	0.431	0.47022	-1.0360	0.18544	T	0.090	0.34573	T	10	0.09552038	0.17065	T	0.009865	0.25698	T	0.257	0.56827	.	.	0.431712495121	0.42787	0.6006686718578141	0.59997	0.0089896466417	0.00812	0.432231843472	0.29513	T	0.177987	0.52847	T	-0.411197	0.01951	T	-0.403966	0.32923	T	0.739219307899475	0.42695	D	0.652935	0.26315	T	0.1907644	0.40676	0.20545392	0.44715	0.1907644	0.40676	0.20545392	0.44714	-7.205	0.55517	T	.	.	0.107	0.20663	B	.;.;.	.;.;.	3.307339	0.45428	22.1	0.99496568318498957	0.67744	0.86698	0.46034	D	AEFDBIJ	0.261804	0.37968	N	0.0646541074706584	0.44818	2.749096	-0.0910872972010625	0.35756	2.072555	0.936313292354206	0.27249	0.553676	0.25195	0	0.59043	0.45803	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.1	2.26	0.27418	4.468000	0.59896	7.575000	0.60810	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.006000	0.07323	0.1554:0.1392:0.7054:0.0	7.330	0.25749	790	0.46189	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1286.98	35	chr9	18928992	.	G	A	1286.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.236;DP=872;ExcessHet=0.0000;FS=0.754;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=-5.140e-01;SOR=0.598	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	20	0	1	0
chr9	19058600	19058600	C	A	exonic	HAUS6	.	nonsynonymous SNV	HAUS6:NM_001270890:exon16:c.G2062T:p.D688Y	.	.	442	1075	5	0	0	5	0.00232019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.958	D	0.568	P	0.189	N	1.000	N	1.445	L	1.61	T	-1.028	T	0.056	T	0.134	0.718	7.824	-1.82	-0.229	-0.216	1.506	0.027	.	0.0052	0.00279553	0.0071	0.0021	0.0055	0	0.0074	0.0106	0.0102	0.0010	0.0006727	104	154602	rs113547478	0.0075	0.0075	0.0076	0.0073	0.0129	0.0073	0.0073	0.0105	0.0097	0.0014	0.0055	0.0214	0	0.0066	0.0129	0.0082	0.0069	0.0007	0.0058	0.0058	0.0062	0.0054	0.0077	0.0055	0.0054	0.0072	0.0069	0.0017	0	0.0077	0.0219	0	0.0056	0.0170	0.0077	0.0109	0.0012	0.018	0.51248	D	0.03	0.54159	D	0.958	0.54977	D	0.568	0.49807	P	0.189189	0.03238	N	1.538370	1	0.08975	N	1.735	0.44892	L	1.61	0.28391	T	-3.98	0.77717	D	0.202	0.22357	-1.0277	0.21200	T	0.056	0.23527	T	10	0.0056252778	0.00125	T	.	.	.	0.027	0.05988	.	.	0.239305524855	0.23518	0.25479023368151005	0.25393	0.140115118664	0.15791	0.231105089188	0.02051	T	0.00779	0.39775	T	-0.591899	0.00163	T	-0.616884	0.11431	T	0.0498516026703975	0.05475	T	0.729327	0.34443	T	0.061745796	0.12821	0.11337768	0.27361	0.061745796	0.12821	0.11337768	0.27361	-6.278	0.48548	T	.	.	0.100	0.20586	B	.;.	.;.	1.745122	0.22204	15.52	0.97465567261611485	0.34105	0.05350	0.11207	N	AEFGBI	0.053981	0.09774	N	-0.663108906166838	0.17079	0.8758265	-0.829971606891244	0.13770	0.7161314	0.0146745814687158	0.12625	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.04	-1.82	0.07433	-0.150000	0.10174	-0.501000	0.08802	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.095000	0.18041	0.142:0.3006:0.1387:0.4187	1.506	0.02336	616	0.66398	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1350.11	43	chr9	19058600	.	C	A	1350.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.439e+00;DP=825;ExcessHet=0.1072;FS=9.793;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=38.80;MQRankSum=1.69;QD=20.77;ReadPosRankSum=0.851;SOR=0.136	GT:AD:DP:GQ:PL	0/1:14,26:40:99:880,0,425	19	0	2	0
chr9	19126126	19126126	G	C	exonic	PLIN2	.	nonsynonymous SNV	PLIN2:NM_001122:exon3:c.C214G:p.L72V,	.	.	432	1037	46	7	0	60	0.0281162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.001	N	0.999	D	3.12	M	2.47	T	-0.797	T	0.107	T	0.869	3.862	19.62	3.37	1.330	5.580	13.145	0.396	.	0.0048	0.00778754	0.0078	0.0007	0.0029	0	0.0003	0.0063	0.0100	0.0292	0.0069986	1082	154602	rs149124591	0.0049	0.0049	0.0040	0.0058	0.0279	0.0048	0.0048	0.0270	0.0266	0.0003	0.0032	0.0328	5.04e-05	0.0004	0.0206	0.0028	0.0072	0.0279	0.0039	0.0039	0.0037	0.0041	0.0269	0.0036	0.0035	0.0232	0.0218	0.0006	0	0.0041	0.0268	0	0.0003	0.0102	0.0039	0.0043	0.0269	0.003	0.78490	D	0.004	0.92824	D	0.974	0.57829	D	0.974	0.73157	D	0.001185	0.39899	N	0.221461	0.998758	0.45389	D	3.42	0.91902	M	2.47	0.14783	T	-2.37	0.61580	N	0.817	0.81261	-0.7969	0.55327	T	0.107	0.39051	T	10	0.010061443	0.00225	T	.	.	.	0.396	0.71084	.	.	0.659526208185	0.65667	0.7646046571490274	0.76409	0.252766109563	0.27842	0.538249135017	0.44198	T	0.349394	0.71725	T	-0.151012	0.28154	T	0.0305767	0.72315	D	0.0698357970993575	0.08628	T	0.978169	0.92312	D	0.2263921	0.45320	0.27991867	0.53964	0.2263921	0.45320	0.27991867	0.53963	-9.252	0.69305	D	.	.	0.193	0.46631	B	.;.;.;.	.;.;.;.	6.398484	0.95145	34	0.99827297879109511	0.90939	0.97207	0.73322	D	ALL	0.681205	0.64464	D	0.714991296709042	0.80615	7.333665	0.628639343559016	0.77029	6.601281	0.999999717361203	0.74766	0.645754	0.44609	0	0.672317	0.65289	0	0.696144	0.63334	0	0.638787	0.57140	0	.	.	5.54	3.37	0.37692	5.688000	0.67889	4.196000	0.42436	-0.198000	0.09030	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.152:0.0:0.848:0.0	13.145	0.58873	681	0.59854	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1378.98	35	chr9	19126126	.	G	C	1378.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.652e+00;DP=835;ExcessHet=0.0000;FS=1.622;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.07;ReadPosRankSum=0.296;SOR=0.532	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr9	19346596	19346596	T	G	exonic	DENND4C	.	nonsynonymous SNV	DENND4C:NM_017925:exon22:c.T3680G:p.V1227G	.	.	431	1084	7	0	0	7	0.00321839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.963	D	0.603	P	0.917	N	1.000	D	1.61	L	1.7	T	-1.156	T	0.087	T	0.752	2.601	14.66	4.68	1.035	2.169	11.551	0.142	0.0150813085479	0.0015	0.00299521	0.0014	0.0051	0.0009	0.0001	0	0.0014	0.0011	0.0006	0.0013907	215	154602	rs34267952	0.0009	0.0009	0.0009	0.0010	0.0045	0.0009	0.0009	0.0037	0.0035	0.0042	0.0006	0.0047	0	0	0.0045	0.0008	0.0015	0.0007	0.0022	0.0022	0.0020	0.0024	0.0049	0.0020	0.0019	0.0043	0.0041	0.0049	0.0066	0.0010	0.0075	0.0002	0	0.0034	0.0011	0.0019	0.0006	.	.	.	0.175	0.34359	T	.	.	.	.	.	.	0.917302	0.08511	N	0.964820	0.999992	0.81001	D	.	.	.	3.41	0.05574	T	.	.	.	0.239	0.26957	-1.1563	0.00850	T	0.087	0.33802	T	10	0.007730067	0.00175	T	0.015081	0.35602	T	.	.	.	.	0.367229591828	0.36328	0.5308378768336856	0.53007	0.04256783019	0.04588	0.287085205317	0.08499	T	0.025701	0.19163	T	-0.316632	0.07178	T	-0.226918	0.52069	T	0.0231665818017084	0.01043	T	0.550145	0.20372	T	0.1230204	0.28895	0.14525862	0.34457	0.1230204	0.28895	0.14525862	0.34456	-2.027	0.03284	T	.	.	0.284	0.51669	B	.;.;.	.;.;.	3.432991	0.47720	22.5	0.99236170915590027	0.56373	0.97622	0.75966	D	AEFBI	0.434729	0.49566	N	0.235373780766802	0.52921	3.463339	0.280837915191587	0.54422	3.607163	0.952485612769045	0.28019	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.81	4.68	0.58319	1.738000	0.37831	2.350000	0.32308	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0693:0.0:0.9307	11.551	0.49972	487	0.76954	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1998.98	33	chr9	19346596	.	T	G	1998.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.034e+00;DP=861;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=-1.973e+00;SOR=0.678	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1255	20	0	1	0
chr9	19379516	19379516	C	G	exonic	RPS6	.	nonsynonymous SNV	RPS6:NM_001010:exon2:c.G109C:p.A37P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	B	0.033	B	0.000	D	1.000	D	-0.47	N	0.92	T	-1.066	T	0.044	T	0.401	1.800	11.98	3.77	2.626	0.665	11.376	0.094	0.0143303180136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.469	0.13349	T	0.313	0.19539	T	0.003	0.14184	B	0.02	0.22329	B	0.000194	0.48115	D	0.178432	0.999999	0.58761	D	0.845	0.21182	L	0.92	0.46028	T	-0.41	0.40274	N	0.394	0.43514	-1.0661	0.10293	T	0.044	0.18742	T	9	0.1379394	0.26236	T	0.01433	0.34374	T	0.094	0.27141	0.338	0.32816	0.370644970701	0.36680	0.8117249231459223	0.81128	.	.	0.681167900562	0.64437	T	0.178871	0.52967	T	-0.138735	0.30092	T	-0.43706	0.29137	T	0.247089862823486	0.22743	T	0.934007	0.75281	D	0.35452777	0.57417	0.16103078	0.37477	0.35452777	0.57418	0.16103078	0.37477	-4.382	0.29312	T	.	.	0.179	0.39029	B	.;.;.;.	.;.;.;.	3.642710	0.51655	23.1	0.97921068245209419	0.36886	0.84388	0.43470	D	AEFDGBHCI	0.753829	0.69389	D	-0.387611183286798	0.25910	1.410048	-0.172674411591817	0.32546	1.852695	0.999998039900766	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.657601	0.63696	0	.	.	4.74	3.77	0.42499	0.679000	0.24971	2.732000	0.34396	0.599000	0.40250	0.847000	0.30396	0.996000	0.32793	0.870000	0.41412	0.193:0.6919:0.1151:0.0	11.376	0.48969	674	0.60593	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	785.98	36	chr9	19379516	.	C	G	785.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.170e-01;DP=808;ExcessHet=0.0000;FS=2.154;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=1.01;SOR=0.956	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr9	20354845	20354845	T	C	exonic	MLLT3	.	nonsynonymous SNV	MLLT3:NM_001286691:exon9:c.A1457G:p.K486R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.993	D	0.971	D	0.000	D	1.000	D	1.7	L	.	.	-0.516	T	0.361	T	0.601	3.452	17.69	6.04	2.317	6.840	15.770	0.159	0.00681115969451	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs765186482	6.161e-06	6.156e-06	5.449e-06	6.879e-06	2.319e-05	2.9e-06	2.1e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	4.499e-06	3.313e-05	2.319e-05	1.972e-05	1.97e-05	0	4.035e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.147	0.24955	T	0.263	0.22828	T	0.993	0.65571	D	0.971	0.72444	D	0.000000	0.84330	D	0.043248	1	0.81001	D	2.62	0.76659	M	.	.	.	-1.27	0.39887	N	0.357	0.66529	-0.5160	0.68065	T	0.361	0.72277	T	9	0.25784403	0.43204	T	0.006811	0.18010	T	0.159	0.41286	0.246	0.18139	0.475230170154	0.47152	0.3706168621965356	0.36975	0.14834148217	0.16729	0.775147676468	0.78196	T	0.340802	0.70978	T	0.0841241	0.62519	D	-0.116938	0.62053	T	0.895855963230133	0.54748	D	0.857114	0.56785	D	0.14401078	0.33074	0.2114692	0.45576	0.14401078	0.33074	0.2114692	0.45575	-4.612	0.32435	T	.	.	0.078	0.10449	B	.;.;.;.	.;.;.;.	3.344140	0.46092	22.2	0.99766706229660373	0.85500	0.98232	0.80766	D	AEFGBI	0.725590	0.67453	D	0.655521386853352	0.76727	6.540078	0.684886680800928	0.81232	7.478594	0.999999999998621	0.74766	0.706298	0.61202	0	0.658105	0.61773	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	6.04	6.04	0.98025	6.850000	0.75217	7.921000	0.74526	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.770	0.77928	722	0.55239	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1177.98	40	chr9	20354845	.	T	C	1177.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.101e+00;DP=862;ExcessHet=0.0000;FS=4.628;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=-8.130e-01;SOR=0.681	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,111,1665	20	0	1	0
chr9	20413788	20413788	G	A	exonic	MLLT3	.	nonsynonymous SNV	MLLT3:NM_001286691:exon5:c.C1049T:p.P350L	.	.	.	.	.	.	.	.	.	.	.	2331965	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.546	P	0.042	B	0.000	D	1.000	D	1.79	L	.	.	-0.703	T	0.214	T	0.476	2.028	12.74	6.08	2.890	7.802	20.665	0.220	0.0072331871726	.	.	9.953e-05	0	0	0	0	6.011e-05	0	0.0005	7.76e-05	12	154602	rs771693368	9.784e-05	9.987e-05	9.667e-05	9.903e-05	0.0021	8.446e-05	7.923e-05	0.0012	0.0009	2.989e-05	0	0	0	1.873e-05	0.0021	5.756e-05	9.937e-05	0.0007	3.944e-05	3.941e-05	5.14e-05	2.691e-05	7.35e-05	1.716e-05	1.13e-05	2.846e-05	1.858e-05	2.413e-05	0	0	0	0	0	0	7.35e-05	0	0	0.0	0.91255	D	0.005	0.72224	D	0.546	0.38028	P	0.042	0.24114	B	0.000001	0.62929	D	0.099000	1	0.81001	D	1.955	0.52871	M	.	.	.	-3.22	0.64939	D	0.449	0.49965	-0.7027	0.60309	T	0.214	0.57507	T	9	0.14713082	0.27883	T	0.007233	0.19171	T	0.220	0.51569	0.222	0.14518	0.200294437569	0.19612	0.19695786556457262	0.19612	0.17529077387	0.19735	0.720418810844	0.70107	T	0.775428	0.94023	D	-0.178747	0.23922	T	-0.12227	0.61616	T	0.256037809598318	0.23141	T	0.884012	0.60664	D	0.43122643	0.62832	0.3942552	0.64124	0.43122643	0.62833	0.3942552	0.64124	-3.684	0.19333	T	.	.	0.076	0.37914	B	.;.	.;.	4.452828	0.69239	25.3	0.9938168669464934	0.61935	0.98303	0.81433	D	AEFGBI	0.778834	0.71122	D	0.265457891900794	0.54408	3.606368	0.345285475895362	0.58226	3.991719	0.999999979756169	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	6.08	6.08	0.98982	7.926000	0.87003	11.902000	0.99384	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.901000	0.43729	0.0:0.0:1.0:0.0	20.665	0.99682	790	0.46189	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1308.98	34	chr9	20413788	.	G	A	1308.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=826;ExcessHet=0.0000;FS=1.363;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.35;ReadPosRankSum=0.745;SOR=0.535	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,101,1252	20	0	1	0
chr9	20414343	20414345	CTA	-	exonic	MLLT3	.	nonframeshift deletion	MLLT3:NM_001286691:exon5:c.492_494del:p.S187del	.	.	22	1498	2	0	0	2	0.000667111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1038	.	0.0001	0	0	0.0001	0	0.0001	0	0.0003	6.5e-06	1	154602	rs767180736	0.0012	0.0026	0.0011	0.0013	0.0042	0.0012	0.0012	0.0037	0.0035	0.0023	0.0017	0.0051	0.0042	0.0021	0.0018	0.0009	0.0019	0.0014	0.0042	0.0042	0.0044	0.0040	0.0065	0.0039	0.0038	0.0059	0.0056	0.0065	0	0.0038	0.0081	0.0041	0.0011	0.0071	0.0032	0.0048	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	853.94	34	chr9	20414342	.	GCTA	G	853.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=740;ExcessHet=0.0000;FS=1.373;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.98;ReadPosRankSum=1.66;SOR=0.450	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,101,1252	20	0	1	0
chr9	20414376	20414378	CTA	-	exonic	MLLT3	.	nonframeshift deletion	MLLT3:NM_001286691:exon5:c.459_461del:p.S187del	.	.	9	1503	6	0	4	10	0.00199203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1154	.	2.821e-05	0	0	0	0	5.226e-05	0	0	6.5e-06	1	154602	rs746029051	0.0021	0.0072	0.0019	0.0022	0.0021	0.0020	0.0020	0.0019	0.0019	0.0017	0.0010	0.0032	0.0007	0.0069	0.0021	0.0020	0.0025	0.0008	0.0055	0.0056	0.0052	0.0058	0.0076	0.0052	0.0051	0.0070	0.0068	0.0037	0	0.0019	0.0064	0.0006	0.0092	0	0.0076	0.0048	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	188.04	34	chr9	20414375	.	GCTA	G	188.04	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.88;DP=758;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.18;ReadPosRankSum=1.47;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,101,1252	20	0	1	0
chr9	20414378	20414378	A	0	exonic	MLLT3	.	.	.	.	.	1	184	35	2	4	43	0.0958231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3362.48	34	chr9	20414378	.	A	G,*	3362.48	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=1.71;DP=856;ExcessHet=1.7912;FS=5.302;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=0.563;SOR=0.449	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0:34:99:.:.:0,101,1252,101,1252,1252	15	0	5	0
chr9	20758092	20758092	A	G	exonic	FOCAD	.	nonsynonymous SNV	FOCAD:NM_001375570:exon5:c.A290G:p.N97S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.003	B	0.02	B	0.011	N	0.614	D	0.55	N	2.0	T	-1.038	T	0.026	T	0.046	0.661	7.543	-0.076	-0.250	0.114	5.413	0.027	0.00477177773327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.08091	T	0.288	0.21144	T	.	.	.	.	.	.	0.011360	0.29565	N	0.399599	0.614444	0.32650	D	.	.	.	2.0	0.21473	T	-0.31	0.12099	N	0.202	0.22357	-1.0378	0.17985	T	0.026	0.10954	T	10	0.047581285	0.04095	T	0.004772	0.11910	T	0.027	0.05988	0.228	0.15406	0.112648838833	0.10856	0.11129214360005082	0.11058	0.00635658170257	0.00556	0.377763181925	0.21939	T	.	.	.	-0.336024	0.05668	T	-0.720452	0.04774	T	0.0794006139039993	0.09909	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05890	B	.;.	.;.	1.301991	0.17042	12.92	0.82204280209079794	0.14071	0.10374	0.15898	N	AEFBI	0.056947	0.10569	N	-0.780053685926043	0.13830	0.6842397	-0.697008185635478	0.17035	0.9039821	0.521890494590934	0.21103	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.37	-0.0758	0.13059	0.046000	0.13919	0.337000	0.17343	0.756000	0.94297	0.009000	0.18154	0.004000	0.18990	0.968000	0.53726	0.5734:0.277:0.1497:0.0	5.413	0.15659	629	0.65079	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	232.68	109	chr9	20758092	.	A	G	232.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.046e+00;DP=1329;ExcessHet=0.3300;FS=119.092;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.59;ReadPosRankSum=1.08;SOR=9.455	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1279	18	0	3	0
chr9	20926307	20926307	C	A	exonic	FOCAD	.	nonsynonymous SNV	FOCAD:NM_001375568:exon25:c.C2863A:p.P955T	.	.	430	1083	9	0	0	9	0.00413793	.	.	3220247	FOCAD-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.993	D	0.617	P	0.000	D	1.000	D	1.87	L	3.23	T	-1.237	T	0.046	T	0.528	3.647	18.55	6.07	2.885	5.772	20.270	0.223	0.015067815469	0.0002	.	0.0004	0	8.672e-05	0	0	0.0001	0.0011	0.0021	0.0002846	44	154602	rs201363252	0.0002	0.0002	0.0002	0.0003	0.0019	0.0002	0.0002	0.0017	0.0016	0	0.0002	0.0008	0	0	0.0002	9.018e-05	0.0004	0.0019	0.0001	0.0001	0.0001	0.0001	0.0012	9.145e-05	7.701e-05	0.0005	0.0004	4.815e-05	0	0.0004	0.0003	0	0	0	7.35e-05	0.0005	0.0012	0.006	0.61437	D	0.044	0.49663	D	.	.	.	.	.	.	0.000025	0.55875	D	0.159460	0.999996	0.58761	D	.	.	.	3.23	0.06931	T	-1.85	0.43334	N	0.665	0.69300	-1.2373	0.00019	T	0.046	0.19720	T	10	0.098196894	0.17738	T	0.015068	0.35586	T	0.223	0.52023	.	.	0.503868428259	0.50024	0.45164779103105196	0.45082	0.0224936365175	0.02270	0.450447827578	0.32006	T	0.091017	0.38708	T	-0.408394	0.02037	T	-0.365264	0.37442	T	0.310423582792282	0.25431	T	0.807219	0.45710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.23500	B	.;.;.	.;.;.	3.735519	0.53465	23.4	0.99732380168754975	0.82833	0.99218	0.92973	D	AEFBI	0.601862	0.59395	D	0.597005863715178	0.72988	5.893064	0.606410282429013	0.75403	6.304595	0.999999997045029	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.07	6.07	0.98675	6.193000	0.71999	4.897000	0.45822	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.0:1.0:0.0:0.0	20.270	0.98467	453	0.79178	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1041.98	33	chr9	20926307	.	C	A	1041.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.360e-01;DP=786;ExcessHet=0.0000;FS=4.003;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.20;ReadPosRankSum=0.343;SOR=0.360	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1296	20	0	1	0
chr9	21010730	21010730	T	C	exonic	HACD4	.	nonsynonymous SNV	HACD4:NM_001321903:exon7:c.A638G:p.H213R,	.	.	971	549	2	0	0	2	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs775635484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0002	0.0003	0.0001	0.0004	0.0002	0.0001	0.0003	0.0003	4.813e-05	0	0	0	0	9.427e-05	0	0.0004	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	369.34	26	chr9	21010730	.	T	C	369.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.903;DP=454;ExcessHet=0.0000;FS=1.760;InbreedingCoeff=-0.0257;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=16.06;ReadPosRankSum=-2.141e+00;SOR=0.790	GT:AD:DP:GQ:PL	0/0:21,0:21:60:0,60,900	19	0	1	1
chr9	21077372	21077372	T	C	exonic	IFNB1	.	nonsynonymous SNV	IFNB1:NM_002176:exon1:c.A498G:p.I166M,	.	.	.	.	.	.	.	.	.	.	.	723531	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.996	D	0.959	D	0.744	N	1.000	N	2.77	M	3.76	T	-1.147	T	0.020	T	0.127	1.585	11.26	-5.49	-1.202	-2.047	5.197	0.145	.	0.0050	0.00698882	0.0017	0.0169	0.0010	0	0	0.0003	0.0011	0	0.0016429	254	154602	rs141894933	0.0005	0.0005	0.0006	0.0005	0.0156	0.0005	0.0005	0.0145	0.0141	0.0156	0.0010	0	0	0	0.0014	0.0001	0.0011	3.479e-05	0.0051	0.0051	0.0053	0.0049	0.0174	0.0048	0.0047	0.0164	0.0160	0.0174	0	0.0023	0	0	0	0.0034	0.0002	0.0033	0	0.004	0.65419	D	0.005	0.72224	D	0.996	0.68779	D	0.959	0.70163	D	0.743751	0.09755	N	0.885835	1	0.08975	N	1.92	0.51302	L	3.76	0.03892	T	-1.96	0.45404	N	0.185	0.20129	-1.1475	0.01101	T	0.020	0.08220	T	10	0.012941986	0.00276	T	.	.	.	0.145	0.38592	.	.	0.5732715451	0.56994	0.1716432201492929	0.17084	0.0257320318614	0.02628	0.315415620804	0.12727	T	0.207861	0.56763	T	-0.64216	0.00081	T	-0.681569	0.06888	T	0.0802426453652328	0.10018	T	0.741226	0.36032	T	0.6710999	0.76492	0.46239942	0.68786	0.6710999	0.76493	0.46239942	0.68787	-5.263	0.39576	T	.	.	0.211	0.43949	B	.	.	1.026279	0.14061	10.63	0.97729660470409352	0.35610	0.01750	0.05513	N	AEFBI	0.041508	0.06321	N	-0.743353108104271	0.14815	0.7411993	-1.05464843703023	0.08610	0.4241876	0.994146248643702	0.33507	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.45	-5.49	0.02381	-1.661000	0.02074	.	.	-0.736000	0.03693	0.000000	0.06391	0.000000	0.08366	0.038000	0.14061	0.1184:0.1461:0.5451:0.1903	5.197	0.14569	737	0.53483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1394.98	115	chr9	21077372	.	T	C	1394.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.569e+00;DP=802;ExcessHet=0.0000;FS=4.651;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=-4.080e-01;SOR=0.376	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1222	20	0	1	0
chr9	21141288	21141288	G	T	exonic	IFNW1	.	nonsynonymous SNV	IFNW1:NM_002177:exon1:c.C283A:p.R95S,	.	.	425	1082	15	0	0	15	0.00688389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.986	D	0.781	P	0.103	N	1.000	N	1.725	L	4.04	T	-0.971	T	0.002	T	0.222	1.968	12.54	-7.59	-1.364	-0.809	4.789	0.068	.	0.0008	0.0269569	0.0132	0.0012	0.0013	0.0694	0.0213	0.0015	0.0132	0.0435	0.0118757	1836	154602	rs2230055	0.0065	0.0065	0.0056	0.0075	0.0931	0.0064	0.0064	0.0906	0.0895	0.0004	0.0004	0.0004	0.0931	0.0221	0.0021	0.0006	0.0090	0.0393	0.0069	0.0069	0.0047	0.0093	0.0757	0.0066	0.0064	0.0695	0.0671	0.0006	0	0.0003	0.0003	0.0757	0.0292	0	0.0010	0.0076	0.0491	0.448	0.09048	T	0.657	0.06576	T	0.986	0.61523	D	0.781	0.57337	P	0.102690	0.02563	N	1.767260	1	0.08975	N	1.64	0.41913	L	4.04	0.03121	T	-0.5	0.15782	N	0.035	0.01004	-0.9711	0.36967	T	0.002	0.00738	T	10	0.001878649	0.00025	T	.	.	.	0.068	0.19811	.	.	.	.	0.05729109760735713	0.05670	0.0124948759642	0.01191	0.188712120056	0.00203	T	0.041501	0.25880	T	-0.68714	0.00043	T	-0.663089	0.08059	T	0.0444528213691395	0.04503	T	0.581942	0.21082	T	0.2622657	0.49287	0.07943324	0.17880	0.2622657	0.49287	0.07943324	0.17880	-1.864	0.02707	T	.	.	0.177	0.38729	B	.	.	0.154863	0.05464	1.933	0.8364494494498973	0.14840	0.05040	0.10826	N	AEFGBCI	0.083488	0.16914	N	-0.688584445872386	0.16345	0.8319682	-0.96942618026261	0.10476	0.527858	0.999996929550714	0.74766	0.615755	0.39536	0	0.618376	0.53248	0	0.615948	0.41167	0	0.530356	0.10902	0	.	.	4.54	-7.59	0.01167	-0.532000	0.06252	.	.	0.509000	0.23192	0.000000	0.06391	0.000000	0.08366	0.281000	0.24041	0.0725:0.3541:0.3208:0.2525	4.789	0.12609	872	0.31118	.	.	.	.	.	rs2230055	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	890.98	36	chr9	21141288	.	G	T	890.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.92;DP=745;ExcessHet=0.0000;FS=4.294;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=-1.830e-01;SOR=1.156	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1394	20	0	1	0
chr9	21206547	21206547	C	A	exonic	IFNA10	.	nonsynonymous SNV	IFNA10:NM_002171:exon1:c.G551T:p.R184I,	.	.	427	1094	0	1	0	2	0.000913242	.	.	2364714	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.357	B	0.302	B	0.574	N	1.000	N	2.61	M	3.71	T	-1.085	T	0.032	T	0.397	2.415	14.03	3.23	1.806	-1.310	11.862	0.127	0.00329880672002	.	.	8.24e-06	0	8.637e-05	0	0	0	0	0	6.5e-06	1	154602	rs748009686	1.847e-05	1.847e-05	1.361e-05	2.338e-05	8.947e-05	1.265e-05	1.084e-05	2.986e-05	1.805e-05	0	8.947e-05	0	0	0	0	1.709e-05	1.656e-05	3.479e-05	1.974e-05	1.971e-05	2.572e-05	1.347e-05	4.41e-05	5.25e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.007	0.59928	D	0.002	0.79402	D	0.357	0.33788	B	0.302	0.41118	B	0.574448	0.11206	N	0.807431	0.999976	0.18612	N	3.4	0.91674	M	3.71	0.04046	T	-5.61	0.86686	D	0.31	0.34981	-1.0847	0.06462	T	0.032	0.13635	T	10	0.20818603	0.37139	T	0.003299	0.07329	T	0.127	0.34888	.	.	0.322786055943	0.31880	0.11971135471091802	0.11898	0.377942332906	0.39216	0.374214857817	0.21434	T	0.009208	0.08397	T	-0.264624	0.12364	T	-0.517261	0.20572	T	0.54620609693227	0.34336	D	0.645335	0.25688	T	0.21874663	0.44390	0.41580993	0.65684	0.21874663	0.44390	0.41580993	0.65685	-4.687	0.33246	T	.	.	0.111	0.21578	B	.	.	1.174330	0.15644	12.00	0.96562730076573067	0.30265	0.06135	0.12114	N	AEFI	0.037644	0.05207	N	-0.446008112072477	0.23875	1.285261	-0.603652688050379	0.19399	1.040607	0.00944965843378028	0.11855	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.23	3.23	0.36150	-1.472000	0.02448	.	.	-1.567000	0.00939	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:1.0:0.0:0.0	11.862	0.51749	840	0.37365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4518.98	34	chr9	21206547	.	C	A	4518.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.546e+00;DP=2177;ExcessHet=0.0000;FS=0.530;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.37;MQRankSum=-4.780e+00;QD=10.58;ReadPosRankSum=-7.240e-01;SOR=0.633	GT:AD:DP:GQ:PL	0/0:129,0:129:99:0,120,1800	20	0	1	0
chr9	21206602	21206602	C	T	exonic	IFNA10	.	nonsynonymous SNV	IFNA10:NM_002171:exon1:c.G496A:p.V166I,	.	.	425	1078	19	0	0	19	0.00873563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.01	B	0.098	B	0.211	N	1.000	N	0.245	N	3.85	T	-0.900	T	0.005	T	0.089	1.452	10.80	-1.94	-0.415	-3.312	8.684	0.058	0.0067416697472	0.0047	0.00159744	0.0039	0.0008	0.0017	0	0.0050	0.0058	0.0066	0.0015	0.0036351	562	154602	rs111996205	0.0057	0.0057	0.0058	0.0056	0.0068	0.0056	0.0056	0.0067	0.0066	0.0008	0.0025	0.0025	2.519e-05	0.0039	0.0021	0.0068	0.0042	0.0014	0.0040	0.0040	0.0043	0.0036	0.0064	0.0037	0.0036	0.0059	0.0057	0.0014	0.0077	0.0022	0.0023	0	0.0038	0.0170	0.0064	0.0024	0.0017	0.428	0.09600	T	0.35	0.17478	T	0.01	0.15535	B	0.098	0.30479	B	0.211438	0.16356	N	0.603739	1	0.08975	N	0.94	0.23649	L	3.85	0.03650	T	-0.32	0.12283	N	0.05	0.02179	-0.9005	0.47942	T	0.005	0.01578	T	10	0.00878945	0.00199	T	0.006742	0.17812	T	0.058	0.16647	.	.	0.27479166964	0.27093	0.03224333483997631	0.03172	0.0781142600073	0.08789	0.403188467026	0.25513	T	0.00501	0.04439	T	-0.708063	0.00033	T	-0.784874	0.02309	T	0.00461180378071393	0.00049	T	0.857514	0.54691	D	0.05045114	0.09118	0.037917208	0.03546	0.05045114	0.09117	0.037917208	0.03546	-4.026	0.24192	T	.	.	0.106	0.19478	B	.	.	0.222896	0.06049	2.493	0.88614614976109141	0.18116	0.00202	0.01159	N	AEFI	0.016110	0.00343	N	-1.19330831079294	0.05100	0.2317409	-1.20526167517937	0.05825	0.2786405	7.05669080893917E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.75	-1.94	0.07158	-3.268000	0.00590	.	.	0.470000	0.21925	0.000000	0.06391	0.000000	0.08366	0.918000	0.45347	0.0:0.324:0.0:0.676	8.684	0.33389	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	4385.98	34	chr9	21206602	.	C	T	4385.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.98;DP=2126;ExcessHet=0.0000;FS=1.199;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.08;MQRankSum=-4.777e+00;QD=11.22;ReadPosRankSum=0.570;SOR=0.764	GT:AD:DP:GQ:PL	0/0:129,0:129:99:0,120,1800	20	0	1	0
chr9	21217079	21217079	G	A	exonic	IFNA16	.	nonsynonymous SNV	IFNA16:NM_002173:exon1:c.C227T:p.A76V,	.	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.953	P	0.569	P	0.532	N	1.000	N	2.84	M	3.31	T	-1.071	T	0.041	T	0.318	2.974	15.92	2.62	1.471	1.138	10.511	0.084	.	.	0.00159744	0.0018	0	0.0002	0	0	0	0	0.0128	0.0014942	231	154602	rs569687693	0.0007	0.0007	0.0004	0.0011	0.0119	0.0007	0.0007	0.0113	0.0110	2.988e-05	0	0	2.519e-05	0	0.0005	1.529e-05	0.0007	0.0119	0.0004	0.0004	0.0002	0.0006	0.0118	0.0003	0.0003	0.0094	0.0085	0	0	0	0	0	0	0	1.47e-05	0	0.0118	0.022	0.48642	D	0.082	0.41573	T	0.953	0.54283	P	0.569	0.49832	P	0.532085	0.11627	N	0.791679	1	0.08975	N	2.935	0.84639	M	3.31	0.06291	T	-2.95	0.61580	D	0.236	0.26596	-1.0705	0.09304	T	0.041	0.17742	T	10	0.00677979	0.00154	T	.	.	.	0.084	0.24469	.	.	0.201204373187	0.19734	0.10360560660676946	0.10290	.	.	0.416752040386	0.27391	T	0.029807	0.21272	T	-0.528985	0.00389	T	-0.521595	0.20134	T	0.162441117452068	0.18050	T	0.806819	0.45619	T	0.12696645	0.29723	0.15360607	0.36087	0.12696645	0.29723	0.15360607	0.36087	-8.065	0.61513	D	.	.	0.121	0.24967	B	.	.	0.999849	0.13782	10.33	0.99746649020406786	0.83927	0.05213	0.11040	N	AEFBI	0.028207	0.02443	N	-0.215868861421465	0.32481	1.83234	-0.46631537556184	0.23087	1.257296	0.0154999525519743	0.12720	0.59774	0.34471	0	0.596491	0.49125	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	2.62	2.62	0.30337	0.662000	0.24721	.	.	-0.206000	0.08541	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	0.0:0.0:1.0:0.0	10.511	0.44051	835	0.38313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3883.98	33	chr9	21217079	.	G	A	3883.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.252e+00;DP=1737;ExcessHet=0.0000;FS=2.511;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=-8.140e-01;SOR=0.566	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1254	20	0	1	0
chr9	21227789	21227789	T	C	exonic	IFNA17	.	nonsynonymous SNV	IFNA17:NM_021268:exon1:c.A385G:p.M129V,	.	.	.	.	.	.	.	.	.	.	.	2345665	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.225	N	1.000	N	-2.24	N	4.07	T	-0.911	T	0.003	T	0.042	-2.381	0.004	-1.4	-0.363	-3.455	2.927	0.013	0.00357806783716	.	.	0.0001	9.634e-05	0	0	0	0.0002	0	0	0.0002523	39	154602	rs745370118	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0003	0.0003	0	4.472e-05	7.653e-05	0.0002	1.872e-05	0	0.0003	9.937e-05	8.116e-05	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	0.0002	0.0001	0	6.56e-05	0	0.0006	0	0	0.0003	0	0	1.0	0.00964	T	0.589	0.08245	T	0.0	0.02946	B	0.0	0.01387	B	0.225260	0.03482	N	1.507550	1	0.08975	N	-1.795	0.00292	N	4.07	0.03033	T	0.65	0.02332	N	0.018	0.00252	-0.9115	0.46670	T	0.003	0.00800	T	10	0.02384451	0.00636	T	0.003578	0.08185	T	0.013	0.01715	.	.	0.104622674875	0.10061	0.034959754014070636	0.03442	0.0144448951978	0.01372	0.341127723455	0.16607	T	0.02654	0.19616	T	-0.62889	0.00097	T	-0.892825	0.00554	T	0.0321320985298466	0.02327	T	0.166283	0.01543	T	0.043220736	0.06695	0.05344747	0.09004	0.043220736	0.06695	0.05344747	0.09003	-2.598	0.06489	T	.	.	0.054	0.00354	B	.	.	-1.655086	0.00214	0.003	0.4310417864052602	0.03222	0.00035	0.00307	N	AEFI	0.010945	0.00087	N	-1.9267738749926	0.00302	0.01297972	-1.8683961393311	0.00564	0.02503632	1.98649077868997E-5	0.02871	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	2.76	-1.4	0.08499	-4.604000	0.00242	.	.	-1.048000	0.01648	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1513:0.3652:0.3682:0.1153	2.927	0.05432	835	0.38313	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1677.98	41	chr9	21227789	.	T	C	1677.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=10.55;DP=3375;ExcessHet=0.0000;FS=9.721;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.46;MQRankSum=-1.466e+01;QD=5.41;ReadPosRankSum=0.121;SOR=1.254	GT:AD:DP:GQ:PL	0/0:311,0:311:99:0,120,1800	20	0	1	0
chr9	21239454	21239454	G	A	exonic	IFNA14	.	nonsynonymous SNV	IFNA14:NM_002172:exon1:c.C482T:p.P161L,	.	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.008	B	0.065	B	0.054	N	1.000	N	1.595	L	3.96	T	-0.974	T	0.012	T	0.22	2.543	14.46	-3.84	-0.451	-1.464	12.683	0.052	.	.	0.00159744	0.0017	0	0.0002	0	0	0	0	0.0126	0.0014748	228	154602	rs576347453	0.0007	0.0007	0.0004	0.0011	0.0116	0.0007	0.0007	0.0110	0.0108	2.987e-05	0	0	0	0	0.0005	1.619e-05	0.0007	0.0116	0.0004	0.0004	0.0002	0.0006	0.0120	0.0003	0.0003	0.0096	0.0087	2.407e-05	0	0	0	0	0	0	1.47e-05	0	0.0120	0.022	0.48642	D	0.638	0.07015	T	0.008	0.14655	B	0.065	0.27321	B	0.053996	0.22762	N	0.467939	1	0.08975	N	2.065	0.56745	M	3.96	0.03354	T	-6.89	0.93257	D	0.2	0.22098	-0.9740	0.36344	T	0.012	0.04795	T	10	0.009017497	0.00204	T	.	.	.	0.052	0.14661	.	.	0.0611884634855	0.05136	0.06076101270314582	0.06016	.	.	0.269909054041	0.06129	T	0.155739	0.49761	T	-0.615186	0.00118	T	-0.645417	0.09278	T	0.104814676409317	0.12877	T	0.285071	0.05059	T	0.19566165	0.41364	0.18889341	0.42205	0.19566165	0.41364	0.18889341	0.42204	-5.485	0.41728	T	.	.	0.108	0.20352	B	.	.	1.277136	0.16768	12.75	0.89613297214375187	0.18948	0.01069	0.03960	N	AEFBI	0.022621	0.01155	N	-0.96585069367272	0.09341	0.4416506	-1.06919061439428	0.08312	0.4081326	0.413519647978372	0.20232	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.38	-3.84	0.03976	-3.251000	0.00597	.	.	0.569000	0.28856	0.000000	0.06391	0.000000	0.08366	0.984000	0.60418	0.0:0.0:0.2094:0.7906	12.683	0.56296	835	0.38313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4545.98	33	chr9	21239454	.	G	A	4545.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=1097;ExcessHet=0.0000;FS=1.769;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.97;MQRankSum=0.917;QD=11.34;ReadPosRankSum=-5.890e-01;SOR=0.862	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1274	20	0	1	0
chr9	21239841	21239841	A	C	exonic	IFNA14	.	nonsynonymous SNV	IFNA14:NM_002172:exon1:c.T95G:p.L32R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.786	P	0.645	P	0.251	N	1.000	N	1.82	L	3.76	T	-1.061	T	0.024	T	0.55	1.930	12.41	1.66	0.458	0.728	6.427	0.110	0.00512242766757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	2.723e-06	2.75e-06	3.597e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	0.786	0.44460	P	0.645	0.52270	P	0.251488	0.15500	N	0.581766	1	0.08975	N	2.015	0.55033	M	3.76	0.03892	T	-3.86	0.72471	D	0.289	0.32701	-1.0612	0.11459	T	0.024	0.10329	T	10	0.6354802	0.68757	D	0.005122	0.13001	T	0.110	0.31079	0.765	0.89293	0.130388298395	0.12655	0.2601951856849105	0.25933	.	.	0.226852476597	0.01743	T	0.135159	0.46681	T	-0.138363	0.30151	T	-0.436525	0.29198	T	0.776596426963806	0.44839	D	0.719228	0.33234	T	0.5539178	0.70174	0.40378892	0.64824	0.5539178	0.70175	0.40378892	0.64824	-3.805	0.20879	T	.	.	0.071	0.03849	B	.	.	1.511176	0.19414	14.25	0.99170766436902058	0.54383	0.04403	0.09989	N	AEFBI	0.029027	0.02665	N	-0.433995823177922	0.24286	1.310248	-0.657499061348613	0.18027	0.9612415	0.994763033976769	0.33790	0.500041	0.20204	0	0.491513	0.07743	0	0.624306	0.44879	0	0.530356	0.10902	0	.	.	2.86	1.66	0.23081	0.378000	0.20298	.	.	0.567000	0.28720	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.7814:0.0:0.0:0.2185	6.427	0.20977	835	0.38313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3696.98	33	chr9	21239841	.	A	C	3696.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.769e+00;DP=953;ExcessHet=0.0000;FS=2.099;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.16;ReadPosRankSum=-2.763e+00;SOR=0.844	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1274	20	0	1	0
chr9	21304914	21304914	G	A	exonic	IFNA5	.	stopgain	IFNA5:NM_002169:exon1:c.C343T:p.Q115X,	.	.	419	1099	4	0	0	4	0.00181653	.	.	723533	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	2.391	13.96	2.27	0.342	1.652	6.299	.	.	0.0038	0.000998403	0.0052	0.0010	0.0020	0	0.0207	0.0067	0.0044	0.0004	0.004877	754	154602	rs41298198	0.0056	0.0056	0.0057	0.0055	0.0057	0.0055	0.0054	0.0055	0.0055	0.0006	0.0022	0.0082	2.519e-05	0.0218	0.0019	0.0057	0.0046	0.0006	0.0050	0.0050	0.0043	0.0057	0.0067	0.0047	0.0046	0.0062	0.0060	0.0007	0.0011	0.0021	0.0049	0	0.0198	0	0.0067	0.0024	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.042	0.01498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.135181	0.30660	T	0.0440758	0.73194	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.970657	0.94220	34	0.97691746127371137	0.35382	0.06572	0.12586	N	AEFBI	0.032904	0.03805	N	0.063583458156119	0.44770	2.74501	-0.30453147714416	0.27952	1.554795	0.00679061449109165	0.11307	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.16	2.27	0.27501	1.754000	0.37998	.	.	-0.187000	0.09635	0.403000	0.26194	0.000000	0.08366	0.004000	0.06068	0.0992:0.0:0.7185:0.1823	6.299	0.20309	804	0.43891	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	4043.98	33	chr9	21304914	.	G	A	4043.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.961e+00;DP=1151;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.48;ReadPosRankSum=-1.980e-01;SOR=0.679	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr9	24543734	24543734	C	T	exonic	IZUMO3	.	nonsynonymous SNV	IZUMO3:NM_001271706:exon5:c.G493A:p.E165K	.	.	428	1087	7	0	0	7	0.00320954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	0.000	D	.	.	.	.	2.7	T	-0.989	T	0.026	T	0.774	2.483	14.26	3.72	2.588	1.880	10.254	0.157	.	.	0.00898562	0.0022	0	0	0.0560	0	0.0002	0.0049	0.0010	0.0007891	122	154602	rs10966336	0.0020	0.0019	0.0020	0.0019	0.0690	0.0019	0.0019	0.0667	0.0658	3.168e-05	0.0001	0	0.0690	0	0.0005	4.36e-05	0.0029	0.0009	0.0022	0.0023	0.0020	0.0024	0.0596	0.0020	0.0019	0.0541	0.0520	0	0	0.0007	0	0.0596	0	0.0034	8.825e-05	0.0024	0.0008	0.013	0.56456	D	0.01	0.92824	D	.	.	.	.	.	.	0.000170	0.48594	D	0.000000	.	.	.	1.975	0.53506	M	2.7	0.23884	T	-2.71	0.70314	D	0.477	0.59648	-0.9890	0.32853	T	0.026	0.11043	T	6	0.0029291809	0.00047	T	.	.	.	0.157	0.40909	.	.	0.20549828249	0.20151	0.28734257676380853	0.28647	.	.	0.50381988287	0.39360	T	0.070	0.33801	T	-0.340386	0.05361	T	-0.208263	0.53862	T	0.0646618909025794	0.07881	T	0.848915	0.53103	T	0.23298836	0.46096	0.19628942	0.43352	0.23298836	0.46096	0.19628942	0.43351	-3.112	0.11434	T	.	.	0.222	0.50435	B	.;.;.	.;.;.	3.698000	0.52727	23.3	0.99873104680371738	0.95076	0.70998	0.34825	D	AEFI	0.118129	0.23111	N	0.125034172754553	0.47633	2.98626	0.11142251784633	0.45132	2.78185	0.00113123196779537	0.08261	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.69	3.72	0.41857	1.891000	0.39372	5.746000	0.49600	0.599000	0.40250	0.954000	0.33273	1.000000	0.68203	0.119000	0.19126	0.0:0.799:0.201:0.0	10.254	0.42561	950	0.11238	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1696.98	34	chr9	24543734	.	C	T	1696.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.920e-01;DP=810;ExcessHet=0.0000;FS=3.579;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.15;ReadPosRankSum=-9.270e-01;SOR=1.061	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr9	25677983	25677983	C	G	exonic	TUSC1	.	nonsynonymous SNV	TUSC1:NM_001004125:exon1:c.G330C:p.Q110H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.996	D	0.002	U	0.829	N	2.16	M	0.63	T	-0.735	T	0.246	T	0.753	3.722	18.90	3.01	0.612	0.999	8.420	0.165	0.755433499798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	0.996	0.84481	D	0.001897	0.37740	U	0.000000	0.829302	0.28781	N	1.495	0.37439	L	0.63	0.53088	T	-3.12	0.63782	D	0.554	0.57946	-0.7345	0.58735	T	0.246	0.61471	T	10	0.63899016	0.68947	D	0.755433	0.98054	D	0.165	0.42395	0.223	0.14665	0.321108458156	0.31720	0.04184151175331626	0.04129	1.52252279192	0.87447	0.913326382637	0.97775	D	0.122408	0.44605	T	0.0664873	0.60418	T	-0.142272	0.59921	T	0.989806592464447	0.80024	D	0.514549	0.16570	T	0.33074284	0.55531	0.28966406	0.54987	0.33074284	0.55531	0.28966406	0.54986	-5.388	0.40804	T	.	.	0.851	0.79791	P	.	.	3.613059	0.51089	23.0	0.99512726767510995	0.68739	0.53965	0.29500	D	AEFDGBCIJ	0.117060	0.22948	N	0.350131300457776	0.58747	4.048885	0.254976701844875	0.52934	3.464955	0.999998339304314	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	3.92	3.01	0.33872	0.985000	0.29177	2.948000	0.35699	-0.305000	0.06155	1.000000	0.71638	1.000000	0.68203	0.863000	0.40966	0.0:0.8857:0.0:0.1143	8.420	0.31858	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3709.08	61	chr9	25677983	.	C	G	3709.08	.	AC=2;AF=0.048;AN=42;DP=1088;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=27.07;SOR=0.898	GT:AD:DP:GQ:PL	0/0:70,0:70:99:0,120,1800	20	1	0	0
chr9	26917138	26917138	G	A	exonic	PLAA	.	nonsynonymous SNV	PLAA:NM_001031689:exon10:c.C1445T:p.S482L,	.	.	432	1082	8	0	0	8	0.00368324	.	.	1452565	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	0.701	P	0.041	B	0.000	D	1.000	D	1.485	L	0.57	T	-0.940	T	0.123	T	0.855	4.182	21.7	5.93	2.814	6.512	18.530	0.218	0.0243179632652	0.0005	0.000599042	0.0008	0.0006	0.0023	0	0.0002	0.0010	0	6.059e-05	0.0007503	116	154602	rs140970730	0.0008	0.0008	0.0008	0.0008	0.0043	0.0007	0.0007	0.0030	0.0026	0.0002	0.0015	3.829e-05	0	0.0004	0.0043	0.0009	0.0009	0.0002	0.0007	0.0006	0.0006	0.0007	0.0015	0.0005	0.0005	0.0010	0.0009	9.625e-05	0	0.0015	0	0	0.0004	0.0034	0.0009	0.0019	0	0.017	0.51248	D	0.232	0.27235	T	0.419	0.41872	B	0.035	0.23986	B	0.000107	0.50451	D	0.177387	1	0.81001	D	2.64	0.77224	M	0.4	0.57261	T	-2.66	0.56945	D	0.722	0.72388	-0.9401	0.42600	T	0.123	0.42547	T	10	0.064181	0.08473	T	0.024318	0.47307	T	0.218	0.51265	.	.	0.736095994272	0.73373	0.3869127882866225	0.38606	0.254493974337	0.28019	0.520802617073	0.41739	T	0.109529	0.42347	T	-0.0588391	0.43089	T	0.102172	0.77053	D	0.0430049764906576	0.04238	T	0.80002	0.44558	T	0.15282911	0.34673	0.16971284	0.39027	0.15282911	0.34673	0.16971284	0.39026	-6.474	0.50086	T	0.31082483336992506	0.40868	0.078	0.09675	B	.;.	.;.	3.447179	0.47979	22.5	0.99864419586410313	0.94276	0.98647	0.85104	D	AEFBI	0.627965	0.61023	D	0.310516362262114	0.56689	3.833913	0.45506537187777	0.65041	4.774036	0.999999727407085	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.93	5.93	0.95888	6.549000	0.73800	11.911000	0.99583	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:1.0:0.0	18.530	0.90940	487	0.76954	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	507.98	33	chr9	26917138	.	G	A	507.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=726;ExcessHet=0.0000;FS=1.617;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.54;ReadPosRankSum=-7.120e-01;SOR=1.244	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1008	20	0	1	0
chr9	27016910	27016910	A	G	exonic	IFT74	.	nonsynonymous SNV	IFT74:NM_001099222:exon11:c.A793G:p.I265V	.	.	.	.	.	.	.	.	.	.	.	1369153	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.259	B	0.067	B	0.000	N	0.980	D	0.63	N	1.38	T	-1.089	T	0.042	T	0.12	1.559	11.17	0.404	0.102	1.898	2.625	0.030	0.00443154998711	8.5e-05	0.000199681	3.365e-05	0.0004	0	0	0	0	0	0	3.23e-05	5	154602	rs370062629	8.316e-06	8.893e-06	1.102e-05	5.577e-06	0.0003	4.44e-06	3.5e-06	0.0002	0.0001	0.0003	0	0	0	0	0	0	1.68e-05	0	9.192e-05	9.186e-05	8.995e-05	9.397e-05	0.0003	5.523e-05	4.361e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	1.47e-05	0	0	0.266	0.17468	T	0.144	0.33109	T	0.259	0.31472	B	0.041	0.27542	B	0.000298	0.46274	N	0.224065	0.980069	0.39627	D	1.355	0.33814	L	1.38	0.34050	T	-0.69	0.20145	N	0.403	0.44952	-1.0889	0.05718	T	0.042	0.18202	T	10	0.048952222	0.04415	T	0.004432	0.10844	T	0.030	0.07022	.	.	0.186928172975	0.18263	0.09947765640018603	0.09878	0.01395251311	0.01330	0.547421813011	0.45493	T	0.01134	0.10128	T	-0.448592	0.01151	T	-0.576171	0.14889	T	0.031436102265386	0.02215	T	0.830717	0.50455	T	0.03249309	0.03285	0.051711224	0.08375	0.03249309	0.03284	0.051711224	0.08375	-4.179	0.26447	T	.	.	0.110	0.21125	B	.;.;.;.	.;.;.;.	1.704612	0.21711	15.32	0.96288662608006081	0.29305	0.73481	0.35943	D	AEBI	0.133187	0.25275	N	-0.377327696991808	0.26278	1.432982	-0.258688606433622	0.29473	1.65152	0.00152042802698291	0.08604	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.82	0.404	0.15574	2.107000	0.41468	5.023000	0.46762	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.908000	0.44358	0.5466:0.1307:0.071:0.2517	2.625	0.04629	535	0.73288	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	288.98	27	chr9	27016910	.	A	G	288.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.690e-01;DP=614;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.26;ReadPosRankSum=-1.503e+00;SOR=0.892	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1113	20	0	1	0
chr9	27185501	27185501	A	G	exonic	TEK	.	nonsynonymous SNV	TEK:NM_001290078:exon7:c.A758G:p.H253R	Glaucoma 3, primary congenital, E, Autosomal dominant;Venous malformations, multiple cutaneous and mucosal, Autosomal dominant	.	1	1519	2	0	0	2	0.000657895	.	.	901824	Multiple_cutaneous_and_mucosal_venous_malformations	MONDO:MONDO:0010842,MedGen:C1838437,OMIM:600195,Orphanet:2451	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.35	T	0.0	B	0.0	B	0.916	N	1.000	N	-0.69	N	1.71	T	-0.984	T	0.020	T	0.201	0.973	8.971	0.56	0.466	-0.202	1.706	0.121	0.00409098222363	.	0.000599042	0.0003	0	0	0	0	0	0	0.0022	0.0002652	41	154602	rs573051752	0.0001	0.0001	8.85e-05	0.0002	0.0020	0.0001	0.0001	0.0017	0.0017	2.99e-05	0	0	0	0	0.0003	0	0.0003	0.0020	7.228e-05	7.219e-05	5.141e-05	9.41e-05	0.0021	3.971e-05	3.127e-05	0.0011	0.0009	0	0	0	0	0	0	0	0	0.0005	0.0021	0.347	0.12428	T	0.366	0.16668	T	0.0	0.02946	B	0.0	0.01387	B	0.915899	0.08521	N	0.951739	0.999999	0.08975	N	-0.69	0.01958	N	1.71	0.26737	T	-0.91	0.35399	N	0.231	0.31253	-0.9843	0.33998	T	0.020	0.08360	T	10	0.006674379	0.00151	T	0.004091	0.09775	T	0.121	0.33580	0.542	0.65446	0.243187853663	0.23924	0.5434800169758296	0.54274	0.254814007564	0.28058	0.326824069023	0.14454	T	0.01623	0.57873	T	-0.580451	0.00191	T	-0.613338	0.11715	T	0.00680313065734947	0.00077	T	0.622538	0.25820	T	0.104560606	0.24718	0.051507216	0.08304	0.104560606	0.24718	0.051507216	0.08303	-2.645	0.09600	T	0.07638105122949483	0.03484	0.063	0.03625	B	.;.;.;.;.	.;.;.;.;.	0.630651	0.09991	6.745	0.87591344049219177	0.17337	0.08445	0.14373	N	AEFGBHCIJ	0.127988	0.24558	N	-0.864840899746074	0.11687	0.565349	-0.713730133817583	0.16620	0.8800154	0.999904413089053	0.45458	0.730579	0.87903	0	0.59043	0.45803	0	0.659464	0.59346	0	0.648885	0.59868	0	.	.	5.88	0.56	0.16465	-0.017000	0.12529	1.499000	0.26943	-0.117000	0.14459	0.000000	0.06391	0.186000	0.23459	0.996000	0.76049	0.5531:0.1426:0.1664:0.1379	1.706	0.02708	781	0.47532	.;Immunoglobulin-like domain;Immunoglobulin-like domain;.;Immunoglobulin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1636.98	33	chr9	27185501	.	A	G	1636.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.215e+00;DP=873;ExcessHet=0.0000;FS=1.207;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.41;ReadPosRankSum=-7.720e-01;SOR=0.573	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr9	27949728	27949728	T	G	exonic	LINGO2	.	nonsynonymous SNV	LINGO2:NM_001354574:exon6:c.A944C:p.H315P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984	D	0.861	P	0.000	D	1.000	D	1.225	L	0.39	T	-0.768	T	0.233	T	0.689	3.362	17.33	5.95	2.279	8.040	16.424	0.362	0.0167696114298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.38407	T	0.219	0.25987	T	0.984	0.60733	D	0.861	0.61279	P	0.000006	0.62929	D	0.108147	1	0.81001	D	0.815	0.20815	L	0.39	0.57419	T	-2.71	0.57762	D	0.547	0.65245	-0.7678	0.56978	T	0.233	0.59904	T	9	0.5144114	0.62282	D	0.01677	0.38181	T	0.362	0.68230	0.573	0.69695	0.184605227958	0.18053	0.8176652103430494	0.81723	0.361660287145	0.37828	0.622440218925	0.56073	T	0.227797	0.59318	T	0.0921398	0.63428	D	-0.105424	0.62975	T	0.866227984428406	0.51630	D	0.90081	0.65538	D	0.4951831	0.66811	0.5242133	0.72511	0.4951831	0.66812	0.5242133	0.72512	-8.201	0.62432	D	.	.	0.530	0.65911	A	.;.;.	.;.;.	4.039864	0.59798	24.1	0.98540243788669624	0.42707	0.98778	0.86731	D	AEFGBI	0.971828	0.99380	D	0.644010126983445	0.75982	6.403144	0.694754505723211	0.81978	7.655192	0.999997619687308	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.95	5.95	0.96415	8.017000	0.88732	7.944000	0.75617	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.424	0.83629	602	0.67834	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2376.98	34	chr9	27949728	.	T	G	2376.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=891;ExcessHet=0.0000;FS=0.553;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.43;ReadPosRankSum=-6.130e-01;SOR=0.643	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1451	20	0	1	0
chr9	27949993	27949993	G	T	exonic	LINGO2	.	nonsynonymous SNV	LINGO2:NM_001354574:exon6:c.C679A:p.L227M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.000	D	1.000	D	3.67	H	-0.86	T	0.600	D	0.725	D	0.809	3.445	17.66	6.17	2.941	4.805	20.879	0.509	0.0401945701821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.000000	1	0.81001	D	3.775	0.95212	H	-0.86	0.74477	T	-1.87	0.43717	N	0.793	0.78927	0.600	0.91907	D	0.725	0.90583	D	9	0.92766297	0.92111	D	0.040195	0.59241	D	0.509	0.78910	0.825	0.93657	0.571980277249	0.56865	0.6817745151198109	0.68116	0.639740022151	0.57628	0.669850349426	0.62816	T	0.188948	0.54301	T	0.255094	0.79075	D	0.128649	0.78803	D	0.988292276859283	0.78645	D	0.930407	0.74231	D	0.6319459	0.74402	0.55163777	0.74074	0.6319459	0.74403	0.55163777	0.74074	-7.354	0.56579	T	.	.	0.541	0.66419	A	.;.;.	.;.;.	4.356300	0.66946	25.0	0.99573629668829544	0.72561	0.98091	0.79521	D	AEFBI	0.783271	0.71430	D	0.945842772849416	0.93818	12.29833	0.895504098320248	0.95373	13.56111	0.999999999619525	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	6.17	6.17	0.99707	4.912000	0.63031	7.665000	0.64460	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.879	0.99870	607	0.67291	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2596.98	34	chr9	27949993	.	G	T	2596.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.512e+00;DP=932;ExcessHet=0.0000;FS=1.685;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=-1.212e+00;SOR=0.582	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	20	0	1	0
chr9	32425889	32425889	A	G	exonic	ACO1	.	nonsynonymous SNV	ACO1:NM_002197:exon11:c.A1240G:p.T414A	.	.	444	1076	2	0	0	2	0.000928505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.0	B	0.0	B	0.001	D	0.747	D	1.04	L	1.03	T	-1.002	T	0.074	T	0.254	0.711	7.790	4.57	1.072	3.773	12.237	0.064	0.00890395598463	.	0.000199681	1.652e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs529985830	8.21e-06	8.209e-06	2.723e-06	1.375e-05	0.0001	4.38e-06	3.46e-06	7.123e-05	5.481e-05	0	0	0	0	0	0	0	1.656e-05	0.0001	6.567e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.426	0.09658	T	0.718	0.05380	T	0.0	0.02946	B	0.0	0.01387	B	0.000626	0.42799	D	0.292237	0.686723	0.33884	D	0.11	0.08516	N	1.03	0.40469	T	-0.58	0.17417	N	0.169	0.17966	-1.0023	0.29255	T	0.074	0.29865	T	10	0.049839377	0.04629	T	0.008904	0.23463	T	0.064	0.18567	0.313	0.28774	0.414798848334	0.41096	0.39733546457534963	0.39648	0.222575520605	0.24794	0.336585044861	0.15926	T	0.196482	0.55288	T	-0.32126	0.06795	T	-0.49659	0.22701	T	0.0870414301753044	0.10863	T	0.475952	0.14261	T	0.121985	0.28674	0.06361278	0.12626	0.121985	0.28674	0.06361278	0.12626	-5.673	0.43452	T	.	.	0.071	0.04159	B	.;.;.	.;.;.	1.678555	0.21391	15.18	0.90459982309059428	0.19718	0.73052	0.35739	D	AEFBCI	0.588030	0.58546	D	-0.551945330775158	0.20423	1.076493	-0.440036183421739	0.23832	1.301768	0.999999077689236	0.74766	0.732398	0.92422	0	0.659464	0.62310	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.73	4.57	0.55860	2.569000	0.45637	3.574000	0.39134	0.756000	0.94297	0.048000	0.21332	0.958000	0.29226	0.179000	0.21265	0.8574:0.1426:0.0:0.0	12.237	0.53833	716	0.55970	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha domain;Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha domain;Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1811.98	34	chr9	32425889	.	A	G	1811.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.75;DP=863;ExcessHet=0.0000;FS=1.198;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.12;ReadPosRankSum=-1.541e+00;SOR=0.805	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1164	20	0	1	0
chr9	32541457	32541457	G	T	exonic	TOPORS	.	stopgain	TOPORS:NM_001195622:exon2:c.C2873A:p.S958X	Retinitis pigmentosa 31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.192	N	1.000	D	.	.	.	.	.	.	.	.	.	7.694	39	4.46	1.386	2.215	6.370	.	.	.	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	.	1.368e-06	1.368e-06	0	2.75e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191906	0.16824	N	0.441099	0.999744	0.48716	D	.	.	.	.	.	.	.	.	.	0.659	0.67650	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507981	0.94534	D	0.507389	0.94782	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	7.377873	0.96454	36	0.99628819754583964	0.75898	0.93523	0.58449	D	AEFBI	0.053563	0.09661	N	0.69297911906436	0.79172	7.02195	0.550742693833055	0.71448	5.656558	0.999975282294708	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.37	4.46	0.53567	2.267000	0.42986	3.842000	0.40046	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.1634:0.1516:0.685:0.0	6.370	0.20680	482	0.77288	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1546.98	134	chr9	32541457	.	G	T	1546.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=834;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=1.59;SOR=0.696	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1185	20	0	1	0
chr9	32541882	32541882	G	C	exonic	TOPORS	.	nonsynonymous SNV	TOPORS:NM_001195622:exon2:c.C2448G:p.H816Q	Retinitis pigmentosa 31	.	0	1506	15	1	0	17	0.00561241	.	.	193587	not_provided|not_specified|Retinitis_pigmentosa	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.04	D	0.987	D	0.737	P	0.000	D	0.541	D	0.805	L	2.39	T	-1.044	T	0.031	T	0.467	1.935	12.43	0.349	-0.165	0.267	10.066	0.172	0.00746497791374	0.0025	0.00119808	0.0028	0.0003	0.0017	0	0.0014	0.0043	0.0044	0.0007	0.0027943	432	154602	rs41302222	0.0042	0.0042	0.0044	0.0039	0.0049	0.0041	0.0041	0.0048	0.0048	0.0006	0.0024	0.0036	0	0.0017	0.0021	0.0049	0.0037	0.0012	0.0025	0.0025	0.0028	0.0022	0.0042	0.0023	0.0022	0.0038	0.0037	0.0008	0	0.0014	0.0037	0	0.0013	0.0068	0.0042	0.0028	0.0015	0.01	0.56456	D	0.206	0.27056	T	0.987	0.61912	D	0.737	0.55577	P	0.000106	0.50451	D	0.000000	0.540665	0.32051	D	1.955	0.52871	M	2.37	0.15964	T	-1.4	0.34596	N	0.317	0.40264	-1.0437	0.16207	T	0.031	0.13242	T	10	0.0053914785	0.00118	T	0.007465	0.19792	T	0.172	0.43662	0.076	0.00544	0.439152036679	0.43537	0.14323177204597334	0.14246	0.313255474881	0.33618	0.414296090603	0.27051	T	0.035694	0.23820	T	-0.475862	0.00782	T	-0.453708	0.27286	T	0.0201540564812572	0.00716	T	0.69953	0.30934	T	0.069969065	0.15373	0.111961134	0.27011	0.097767696	0.23050	0.11561411	0.27909	-4.54	0.32197	T	.	.	0.242	0.56025	B	.;.	.;.	2.236339	0.28556	17.83	0.98876732715991911	0.47754	0.87381	0.46903	D	AEFBI	0.326836	0.42799	N	-0.105306149837928	0.37160	2.158043	-0.108196561696454	0.35059	2.023843	0.999585710153332	0.40607	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.91	0.349	0.15269	0.289000	0.18713	4.861000	0.45471	-0.116000	0.14526	0.990000	0.36992	1.000000	0.68203	0.994000	0.71098	0.5193:0.0:0.4807:0.0	10.066	0.41479	482	0.77288	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0.02381	1456.98	155	chr9	32541882	.	G	C	1456.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.123;DP=1268;ExcessHet=0.0000;FS=5.986;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.40;ReadPosRankSum=-8.580e-01;SOR=0.874	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr9	32542058	32542058	T	C	exonic	TOPORS	.	nonsynonymous SNV	TOPORS:NM_001195622:exon2:c.A2272G:p.S758G	Retinitis pigmentosa 31	.	0	1521	1	0	0	1	0.000328623	.	.	318364	not_provided|Retinitis_pigmentosa	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.51	T	0.0	B	0.0	B	0.157	N	1.000	N	0	N	2.46	T	-0.964	T	0.018	T	0.032	-0.983	0.287	-1.38	-0.138	0.218	11.457	0.059	0.00217526170089	7.7e-05	.	0.0003	0	8.639e-05	0	0	7.493e-05	0	0.0020	0.0002523	39	154602	rs377384599	0.0002	0.0002	9.937e-05	0.0002	0.0020	0.0001	0.0001	0.0018	0.0017	0	0	0	0	0	0.0017	3.687e-05	0.0002	0.0020	3.942e-05	3.94e-05	2.569e-05	5.379e-05	0.0006	1.715e-05	1.129e-05	0.0002	8.985e-05	0	0	0	0	0	0	0	4.409e-05	0	0.0006	0.548	0.06627	T	0.385	0.15746	T	0.0	0.02946	B	0.0	0.01387	B	0.157107	0.17779	N	0.551636	1	0.08975	N	0.77	0.19370	N	2.46	0.14907	T	-0.99	0.26200	N	0.035	0.03613	-0.9635	0.38507	T	0.018	0.07612	T	10	0.004296005	0.00086	T	0.002175	0.04071	T	0.059	0.16972	.	.	0.260580752073	0.25663	0.09654610612570591	0.09586	0.287450904415	0.31146	0.305004000664	0.11151	T	0.014786	0.12522	T	-0.70714	0.00033	T	-0.795318	0.02022	T	0.00912404616742828	0.00115	T	0.59564	0.22108	T	0.030702865	0.02780	0.03702224	0.03269	0.032404903	0.03258	0.039365035	0.04013	-4.319	0.28512	T	.	.	0.063	0.03128	B	.;.	.;.	0.685400	0.10542	7.250	0.7184062496298893	0.09766	0.06746	0.12768	N	AEFGBI	0.065414	0.12758	N	-1.25065927715832	0.04291	0.1933799	-1.20435471887136	0.05839	0.2793853	0.999919722731924	0.45857	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.61	-1.38	0.08554	0.397000	0.20608	0.041000	0.13868	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.904000	0.43992	0.0:0.4195:0.0:0.5805	11.457	0.49434	482	0.77288	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2649.98	37	chr9	32542058	.	T	C	2649.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.784e+00;DP=1324;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.86;ReadPosRankSum=-6.960e-01;SOR=0.720	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr9	32632666	32632666	C	A	exonic	TAF1L	.	nonsynonymous SNV	TAF1L:NM_153809:exon1:c.G2914T:p.V972L,	.	.	1	1495	25	1	0	27	0.00894929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.774	P	0.688	P	0.000	D	0.991	D	1.5	L	2.54	T	-1.091	T	0.040	T	0.143	2.155	13.16	-0.054	0.507	3.425	4.943	0.076	0.00114923500467	0.0004	0.00159744	0.0011	0	0.0006	0	0.0002	0.0005	0.0022	0.0054	0.0009379	145	154602	rs55906071	0.0006	0.0006	0.0004	0.0008	0.0053	0.0005	0.0005	0.0049	0.0047	5.974e-05	0.0003	0.0005	0	1.872e-05	0.0012	0.0003	0.0008	0.0053	0.0005	0.0005	0.0003	0.0008	0.0068	0.0004	0.0004	0.0050	0.0044	2.406e-05	0	0.0003	0.0003	0	0	0.0034	0.0005	0.0005	0.0068	0.251	0.17069	T	0.39	0.15506	T	0.774	0.44062	P	0.688	0.53700	P	0.000065	0.52346	D	0.128609	0.991491	0.41402	D	1.39	0.34934	L	2.54	0.13916	T	-1.72	0.40850	N	0.214	0.23884	-1.0907	0.05416	T	0.040	0.17106	T	10	0.011918902	0.00258	T	0.001149	0.01434	T	0.076	0.22200	0.33	0.31519	0.434497104326	0.43071	0.5761475823034826	0.57543	0.160340197242	0.18093	0.434875428677	0.29876	T	0.024099	0.18273	T	-0.586404	0.00176	T	-0.614289	0.11639	T	0.0889325541787246	0.11090	T	0.978502	0.92407	D	0.088748306	0.20713	0.084431216	0.19421	0.088748306	0.20713	0.084431216	0.19421	-10.86	0.78884	D	.	.	0.246	0.48008	B	.	.	4.105717	0.61250	24.3	0.98614182156046493	0.43677	0.50292	0.28629	D	AEFBI	0.231861	0.35502	N	-0.0545285893600003	0.39400	2.322896	-0.160507617366261	0.33005	1.883559	0.95158353292811	0.27966	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	1.04	-0.0542	0.13145	3.648000	0.54150	7.452000	0.58971	0.243000	0.18268	0.996000	0.39380	1.000000	0.68203	0.913000	0.44837	0.0:0.7269:0.0:0.2731	4.943	0.13327	836	0.38045	Transcription initiation factor TFIID subunit 1, domain of unknown function	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1754.98	34	chr9	32632666	.	C	A	1754.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.12;DP=1178;ExcessHet=0.0000;FS=6.127;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.02;ReadPosRankSum=-1.940e-01;SOR=0.555	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1104	20	0	1	0
chr9	32633296	32633296	G	C	exonic	TAF1L	.	nonsynonymous SNV	TAF1L:NM_153809:exon1:c.C2284G:p.L762V,	.	.	1	1515	6	0	0	6	0.00197628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.002	B	0.012	B	0.000	D	0.999	N	0.82	L	1.82	T	-1.033	T	0.030	T	0.228	-1.134	0.114	-1.24	-0.276	3.931	4.297	0.112	0.000557498475781	.	0.000199681	0.0003	9.61e-05	0.0002	0	0	1.498e-05	0	0.0022	0.0002911	45	154602	rs200792587	0.0002	0.0002	0.0002	0.0003	0.0021	0.0002	0.0002	0.0018	0.0017	2.987e-05	0.0001	0	2.519e-05	0	0.0005	0.0001	0.0003	0.0021	0.0001	0.0001	8.994e-05	0.0002	0.0021	9.737e-05	8.252e-05	0.0011	0.0009	0	0	0	0	0	0	0	0.0002	0	0.0021	0.566	0.06262	T	0.647	0.06812	T	0.002	0.09854	B	0.012	0.16012	B	0.000012	0.62929	D	0.175861	0.99941	0.21230	N	1.49	0.37298	L	1.82	0.25018	T	0.15	0.05310	N	0.217	0.24260	-1.0331	0.19459	T	0.030	0.12935	T	10	0.009084821	0.00205	T	5.57E-4	0.00221	T	0.112	0.31546	.	.	0.0920862733494	0.08535	0.3737671378113965	0.37290	0.178430521707	0.20078	0.533524751663	0.43531	T	0.034	0.23185	T	-0.532273	0.00372	T	-0.543825	0.17922	T	0.0209057003625889	0.00791	T	0.89741	0.64114	D	0.041902855	0.06258	0.03776325	0.03500	0.041902855	0.06257	0.03776325	0.03500	-6.731	0.52043	T	.	.	0.117	0.23814	B	.	.	1.893318	0.24047	16.25	0.44180022918915607	0.03378	0.59740	0.30999	D	AEFBIJ	0.294008	0.40449	N	-1.02412776540333	0.08104	0.3788758	-1.0046755072446	0.09683	0.4831151	0.172835780433106	0.17761	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	1.19	-1.24	0.08948	4.178000	0.58079	8.868000	0.78328	-1.050000	0.01643	1.000000	0.71638	1.000000	0.68203	0.868000	0.41282	0.7708:0.0:0.2292:0.0	4.297	0.10350	835	0.38313	Transcription initiation factor TFIID subunit 1, domain of unknown function	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3228.98	34	chr9	32633296	.	G	C	3228.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.175;DP=1276;ExcessHet=0.0000;FS=1.589;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.92;ReadPosRankSum=-1.200e+00;SOR=0.698	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1104	20	0	1	0
chr9	32635263	32635263	G	A	exonic	TAF1L	.	nonsynonymous SNV	TAF1L:NM_153809:exon1:c.C317T:p.A106V,	.	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.992	D	0.908	P	0.000	D	1.000	D	2.545	M	1.85	T	-0.947	T	0.129	T	0.303	3.522	17.98	1.16	0.602	6.114	7.773	0.142	0.00236528115817	0.0003	0.000199681	0.0001	0.0013	0.0003	0	0	0	0	0	0.0001164	18	154602	rs144981477	3.01e-05	3.01e-05	3.675e-05	2.338e-05	0.0009	2.281e-05	2.032e-05	0.0007	0.0006	0.0009	0.0002	0	0	0	0	0	8.279e-05	1.159e-05	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0007	0.0006	0.0010	0	0.0003	0	0	0	0	0	0.0005	0	0.002	0.72154	D	0.007	0.69154	D	0.992	0.64738	D	0.908	0.64494	P	0.000000	0.84330	D	0.000000	0.999626	0.47904	D	2.765	0.80766	M	1.85	0.24472	T	-3.62	0.69593	D	0.384	0.42541	-0.9470	0.41481	T	0.129	0.43686	T	10	0.07632297	0.11909	T	0.002365	0.04590	T	0.142	0.37995	.	.	0.529961695366	0.52645	0.5327570081964922	0.53200	0.570767969123	0.53222	0.400256931782	0.25104	T	0.325616	0.69631	T	-0.377327	0.03238	T	-0.373973	0.36426	T	0.309864899398116	0.25408	T	0.983302	0.94339	D	0.40987065	0.61410	0.24501489	0.49981	0.40987065	0.61410	0.24501489	0.49980	-3.194	0.12407	T	.	.	0.342	0.56031	A	.	.	3.316146	0.45584	22.2	0.99856159314563309	0.93458	0.76515	0.37532	D	AEFDBI	0.293794	0.40433	N	0.250566387190048	0.53666	3.534592	0.033184400028537	0.41267	2.476339	0.996718472167954	0.34950	0.693126	0.56070	0	0.659464	0.62310	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	1.16	1.16	0.19936	6.515000	0.73661	10.992000	0.84691	0.429000	0.20894	1.000000	0.71638	1.000000	0.68203	0.519000	0.29452	0.0:0.0:1.0:0.0	7.773	0.28186	834	0.38640	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2118.98	38	chr9	32635263	.	G	A	2118.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.170e-01;DP=938;ExcessHet=0.0000;FS=1.211;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=-6.090e-01;SOR=0.669	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1104	20	0	1	0
chr9	32989807	32989807	G	A	exonic	APTX	.	nonsynonymous SNV	APTX:NM_001195248:exon2:c.C85T:p.R29C	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1982763	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.86	M	-3.0	D	1.102	D	0.961	D	0.875	4.622	25.3	5.58	2.636	7.394	17.067	0.877	0.402513602915	.	.	1.647e-05	0	0	0	0	1.499e-05	0	6.057e-05	1.29e-05	2	154602	rs754156994	8.209e-06	8.209e-06	4.084e-06	1.238e-05	4.637e-05	4.38e-06	3.46e-06	1.583e-05	9.3e-06	0	0	0	0	0	0	6.295e-06	1.656e-05	4.637e-05	6.57e-06	6.567e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.31	0.90591	M	-3.0	0.97849	D	-4.29	0.95634	D	0.966	0.98657	1.102	0.99747	D	0.961	0.98731	D	10	0.90581304	0.89945	D	0.402514	0.93427	D	0.877	0.96354	.	.	0.990135326797	0.99002	0.8174518694771439	0.81702	0.416609245042	0.42299	0.600270211697	0.52942	T	0.740933	0.92824	D	0.467517	0.93238	D	0.530633	0.95241	D	0.997613906860352	0.91988	D	0.989401	0.97720	D	0.68565196	0.77275	0.59199375	0.76322	0.68565196	0.77276	0.59199375	0.76323	-11.812	0.85712	D	.	.	0.886	0.81821	P	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	5.967884	0.94212	34	0.99941177190431751	0.99797	0.97554	0.75511	D	ALL	0.943765	0.95002	D	0.925860435472583	0.92967	11.73881	0.881456122233337	0.94712	12.981	0.999999979852037	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	7.539000	0.80984	9.757000	0.81495	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	17.067	0.86438	534	0.73357	.;.;.;.;.;Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain;.;.;.;Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain;Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1895.98	34	chr9	32989807	.	G	A	1895.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.420e+00;DP=815;ExcessHet=0.0000;FS=11.040;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.58;ReadPosRankSum=-9.520e-01;SOR=0.721	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1330	20	0	1	0
chr9	33385764	33385764	C	T	exonic	AQP7	.	nonsynonymous SNV	AQP7:NM_001318156:exon6:c.G457A:p.V153M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.995	D	0.869	P	0.000	D	1.000	N	3.265	M	-2.35	D	0.194	D	0.787	D	0.469	1.572	11.21	1.05	0.024	0.044	8.101	0.055	0.0084383784372	.	0.000199681	0.0001	0	0.0002	0.0009	0	4.498e-05	0	6.056e-05	9.7e-05	15	154602	rs201192248	2.395e-05	2.463e-05	3.132e-05	1.651e-05	0.0002	1.739e-05	1.539e-05	9.928e-05	7.224e-05	0	8.944e-05	0	0.0002	0	0	1.079e-05	0.0001	4.639e-05	7.22e-05	7.217e-05	6.421e-05	8.055e-05	0.0010	3.967e-05	3.124e-05	0.0004	0.0002	0	0	6.532e-05	0	0.0010	0	0	7.349e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	0.985	0.67487	D	0.812	0.61749	P	0.000129	0.49741	D	0.174297	0.999951	0.19072	N	.	.	.	-2.35	0.88066	D	-2.6	0.57110	D	0.591	0.61426	0.194	0.85799	D	0.787	0.92790	D	10	0.0655458	0.08858	T	0.008438	0.22332	T	0.371	0.69016	.	.	0.718680186441	0.71620	.	.	0.681429801449	0.60047	0.400592982769	0.25152	T	0.687083	0.95357	D	0.0739642	0.61326	D	-0.131532	0.60843	T	0.271196062467555	0.23799	T	0.876112	0.71672	D	0.8192668	0.85170	0.64877766	0.79456	0.8192668	0.85171	0.64877766	0.79457	-7.67	0.58799	D	.	.	0.451	0.76420	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.576886	0.20184	14.63	0.99341881291286549	0.60210	0.08394	0.14329	N	AEFDBI	0.233574	0.35647	N	-0.263102405105401	0.30584	1.706688	-0.538724453893042	0.21104	1.140168	0.787371942100614	0.23954	0.57788	0.32782	0	0.851559	0.99867	0	0.608075	0.38828	0	0.613276	0.41899	0	.	.	5.02	1.05	0.19280	0.058000	0.14178	-3.050000	0.03106	-0.210000	0.08370	0.001000	0.13787	0.000000	0.08366	0.010000	0.09038	0.0:0.6414:0.0:0.3586	8.101	0.30020	522	0.74218	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2289.98	35	chr9	33385764	.	C	T	2289.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.51;DP=939;ExcessHet=0.0000;FS=1.098;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=-1.073e+00;QD=11.45;ReadPosRankSum=-6.600e-02;SOR=0.670	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1113	20	0	1	0
chr9	33386974	33386974	A	G	exonic	AQP7	.	nonsynonymous SNV	AQP7:NM_001318156:exon3:c.T92C:p.I31T	.	.	501	1019	2	0	0	2	0.000980392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.006	B	0.034	B	0.000	D	1.000	D	.	.	-2.66	D	0.049	D	0.592	D	0.602	1.660	11.51	3.41	1.570	8.302	10.174	0.707	0.324874246336	.	0.00279553	0.0005	9.614e-05	0.0002	0.0002	0.0012	0.0004	0.0011	0.0012	0.0001035	16	154602	rs569224546	0.0011	0.0015	0.0010	0.0012	0.0030	0.0011	0.0011	0.0027	0.0026	0.0026	0.0008	0	0.0004	0.0025	0.0005	0.0009	0.0012	0.0030	0.0020	0.0052	0.0021	0.0020	0.0035	0.0019	0.0018	0.0025	0.0024	0.0030	0	0.0003	0	0.0010	0.0024	0	0.0020	0.0010	0.0035	0.016	0.54683	D	0.045	0.79402	D	0.005	0.13644	B	0.034	0.22546	B	0.000166	0.48594	D	0.145043	0.986642	0.81001	D	.	.	.	-2.66	0.90272	D	-3.64	0.69835	D	0.577	0.63968	0.049	0.83212	D	0.592	0.85416	D	9	0.057749808	0.06683	T	0.324874	0.91582	D	0.707	0.89514	.	.	0.801924819766	0.80007	.	.	0.24940525845	0.27514	0.494553685188	0.38070	T	0.589318	0.89767	D	0.153531	0.69599	D	-0.0172397	0.69210	D	0.0988771660953761	0.12233	T	0.70293	0.33152	T	0.6251039	0.74036	0.49296644	0.70672	0.6251039	0.74037	0.49296644	0.70672	-6.157	0.47574	T	.	.	0.415	0.73479	A	.;.;.;.;.	.;.;.;.;.	3.060483	0.41100	21.3	0.97715397405910009	0.35525	0.98230	0.80748	D	AEFBI	0.952918	0.96877	D	-0.0910379442239802	0.37786	2.203335	-0.016418177532572	0.38973	2.303885	0.999976257593282	0.50053	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.41	3.41	0.38145	6.989000	0.75988	7.897000	0.73349	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.437000	0.27605	1.0:0.0:0.0:0.0	10.174	0.42105	564	0.70960	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	663.98	33	chr9	33386974	.	A	G	663.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.347e+00;DP=713;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.50;MQRankSum=-1.120e+00;QD=14.43;ReadPosRankSum=-2.465e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1410	20	0	1	0
chr9	33558090	33558090	T	C	exonic	ANKRD18B	.	nonsynonymous SNV	ANKRD18B:NM_001353432:exon12:c.T2174C:p.M725T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	.	.	.	.	.	.	0.999	N	.	.	3.16	T	-0.985	T	0.040	T	0.115	-0.066	3.679	-1.22	-0.317	1.150	4.542	0.024	0.00914420225022	.	.	1.18e-05	0	0	0	0	0	0	7.668e-05	6.5e-06	1	154602	rs747317874	1.373e-06	1.368e-06	0	2.76e-06	2.342e-05	2.3e-07	9e-08	3.89e-06	1.46e-06	0	0	0	0	0	0	0	0	2.342e-05	6.571e-06	6.567e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.162	0.29554	T	0.099	0.38891	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.87	0.49600	L	1.74	0.26301	T	-1.73	0.41809	N	0.19	0.20793	-0.9847	0.33903	T	0.040	0.17277	T	5	0.14289233	0.27136	T	0.009144	0.24036	T	0.024	0.04979	0.314	0.28935	0.166414681773	0.16258	0.11042002398748951	0.10971	0.0256098080643	0.02620	0.68451488018	0.64917	T	0.011616	0.22968	T	-0.256462	0.13318	T	-0.606167	0.12298	T	0.0772843540493079	0.09636	T	0.436756	0.12454	T	0.0519542	0.09618	0.107041135	0.25763	0.0519542	0.09618	0.107041135	0.25762	-2.868	0.08828	T	.	.	0.281	0.51367	B	.;.	.;.	0.917375	0.12921	9.430	0.4383901506930688	0.03328	0.04432	0.10028	N	AEFI	0.039280	0.05682	N	-0.625712596427832	0.18175	0.9414695	-0.810836904907292	0.14234	0.7426396	2.63929009955344E-4	0.06244	0.615465	0.37627	0	0.573888	0.26702	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	1.72	-1.22	0.09005	1.479000	0.35061	4.873000	0.45587	0.309000	0.19094	0.999000	0.42656	0.788000	0.26838	0.174000	0.21107	0.4169:0.0:0.0:0.5831	4.542	0.11462	712	0.56465	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1173.98	38	chr9	33558090	.	T	C	1173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.177e+00;DP=875;ExcessHet=0.0000;FS=2.397;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.36;MQRankSum=-5.111e+00;QD=10.21;ReadPosRankSum=-1.040e-01;SOR=0.476	GT:AD:DP:GQ:PL	0/1:55,60:115:99:1188,0,1186	20	0	1	0
chr9	33575256	33575256	A	G	exonic	ANKRD18B	.	nonsynonymous SNV	ANKRD18B:NM_001353432:exon20:c.A3361G:p.M1121V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003842	10	26028	rs1460338405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0053	0.0006	0.0009	0.0011	0.0007	0.0006	0.0007	0.0006	0.0009	0	0.0008	0.0032	0.0006	0.0009	0	0.0006	0.0005	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03846	30.99	2	chr9	33575256	.	A	G	30.99	.	AC=1;AF=0.038;AN=26;BaseQRankSum=1.53;DP=73;ExcessHet=0.0000;FS=10.338;InbreedingCoeff=-0.0528;MLEAC=2;MLEAF=0.077;MQ=56.76;MQRankSum=-5.865e+00;QD=0.62;ReadPosRankSum=0.388;SOR=2.261	GT:AD:DP:GQ:PL	./.	12	0	1	8
chr9	33944447	33944447	A	G	exonic	UBAP2	.	nonsynonymous SNV	UBAP2:NM_001370067:exon12:c.T1304C:p.I435T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.733	P	0.201	B	0.291	N	1.000	N	0	N	2.75	T	-1.069	T	0.028	T	0.158	-0.113	3.447	4.08	2.065	2.565	10.258	0.031	0.00776838224236	0.0002	.	0.0002	0	0	0.0016	0	0.0002	0	0	0.0001682	26	154602	rs201283769	0.0001	0.0001	0.0001	0.0002	0.0010	0.0001	0.0001	0.0007	0.0006	0.0001	2.236e-05	0	0.0010	0	0	0.0002	8.279e-05	2.319e-05	9.855e-05	0.0001	7.711e-05	0.0001	0.0012	6.006e-05	4.879e-05	0.0005	0.0003	4.814e-05	0	6.546e-05	0	0.0012	0	0	8.822e-05	0	0	0.44	0.09264	T	0.445	0.13140	T	0.067	0.23653	B	0.011	0.15521	B	0.291413	0.14762	N	0.680586	1	0.08975	N	0.69	0.16971	N	2.75	0.11622	T	0.0	0.07008	N	0.062	0.03392	-1.0687	0.09701	T	0.028	0.12058	T	10	0.008266509	0.00187	T	0.007768	0.20616	T	0.031	0.07369	.	.	0.043077524339	0.03247	0.05740121079892574	0.05681	0.0917213970653	0.10352	0.341591238976	0.16676	T	0.011672	0.10383	T	-0.581288	0.00189	T	-0.611121	0.11894	T	0.0105922958599373	0.00148	T	0.573243	0.20505	T	0.018743904	0.00397	0.039744217	0.04138	0.018743904	0.00397	0.039744217	0.04137	-1.973	0.03081	T	.	.	0.055	0.00412	B	.;.	.;.	1.575315	0.20165	14.62	0.78749880321267252	0.12436	0.22437	0.21746	N	AEFBI	0.073292	0.14656	N	-0.707908616543125	0.15798	0.7994074	-0.650072014454263	0.18215	0.9720598	0.997318501385282	0.35488	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.42	4.08	0.46880	3.389000	0.52255	4.606000	0.44017	-0.041000	0.17446	0.442000	0.26503	1.000000	0.68203	0.132000	0.19645	0.8644:0.0:0.1356:0.0	10.258	0.42586	302	0.87871	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2019.98	36	chr9	33944447	.	A	G	2019.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.167e+00;DP=838;ExcessHet=0.0000;FS=1.455;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.66;ReadPosRankSum=-5.390e-01;SOR=0.558	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1124	20	0	1	0
chr9	34093402	34093402	G	A	exonic	DCAF12	.	nonsynonymous SNV	DCAF12:NM_015397:exon7:c.C908T:p.A303V,	.	.	424	1081	16	1	0	18	0.00825688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.633	P	0.118	B	0.000	D	1.000	D	2.25	M	-0.27	T	-0.460	T	0.276	T	0.954	4.483	24.0	5.64	2.670	9.102	17.868	0.471	.	0.0002	0.00399361	0.0022	0	0.0008	0	0	0.0004	0.0022	0.0139	0.001934	299	154602	rs149115505	0.0010	0.0010	0.0006	0.0015	0.0138	0.0010	0.0010	0.0131	0.0129	5.974e-05	0.0002	3.826e-05	0	0	0.0019	0.0002	0.0011	0.0138	0.0006	0.0006	0.0003	0.0009	0.0133	0.0005	0.0005	0.0107	0.0097	4.811e-05	0	0.0005	0	0	0	0	0.0002	0	0.0133	0.007	0.59928	D	0.013	0.63109	D	0.633	0.40250	P	0.118	0.32088	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.3	0.65703	M	-0.27	0.67367	T	-2.12	0.48184	N	0.921	0.92433	-0.4600	0.70067	T	0.276	0.64814	T	10	0.012073249	0.00261	T	.	.	.	0.471	0.76487	.	.	0.810726899296	0.80895	0.6850247409028064	0.68441	1.03043029366	0.75413	0.832992434502	0.87021	D	0.209426	0.56964	T	0.00687563	0.52599	T	0.248131	0.85529	D	0.0712406606931485	0.08824	T	0.960304	0.85063	D	0.2813473	0.51177	0.2866694	0.54676	0.2813473	0.51177	0.2866694	0.54675	-8.042	0.61356	D	.	.	0.817	0.78094	P	.	.	4.493645	0.70214	25.5	0.99857932726301568	0.93639	0.99295	0.94095	D	AEFDBI	0.909636	0.86652	D	0.533704854304489	0.69097	5.308765	0.627181203696604	0.76920	6.580939	0.999999999946936	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	9.225000	0.94383	11.840000	0.97786	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	17.868	0.88717	401	0.82673	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	885.98	35	chr9	34093402	.	G	A	885.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.858;DP=826;ExcessHet=0.0000;FS=1.592;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.84;ReadPosRankSum=1.80;SOR=0.904	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr9	34125238	34125238	G	T	exonic	DCAF12	.	nonsynonymous SNV	DCAF12:NM_015397:exon2:c.C118A:p.P40T,	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.722	P	0.164	B	0.000	D	0.996	D	1.59	L	2.25	T	-0.893	T	0.154	T	0.442	2.617	14.71	4.76	2.477	3.481	17.975	0.073	0.00968864494655	0.0002	.	3.296e-05	0	0	0	0	5.996e-05	0	0	2.59e-05	4	154602	rs148043008	1.3e-05	1.3e-05	1.361e-05	1.238e-05	1.159e-05	8.31e-06	6.7e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.993e-06	0.0001	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.32769	T	0.302	0.41742	T	0.722	0.42387	P	0.164	0.34953	B	0.000041	0.53742	D	0.128266	0.996372	0.43168	D	2.11	0.58565	M	2.25	0.58897	T	-1.41	0.36980	N	0.589	0.60918	-0.8928	0.48687	T	0.154	0.48360	T	10	0.21749201	0.38362	T	0.009689	0.25313	T	0.073	0.21317	.	.	0.694796907843	0.69217	0.23297011220060498	0.23212	0.539017869992	0.51144	0.66483938694	0.62101	T	0.007756	0.09270	T	-0.117139	0.33592	T	-0.275587	0.47255	T	0.298669815063477	0.24949	T	0.731927	0.38041	T	0.19896245	0.41817	0.14385211	0.34173	0.19896245	0.41817	0.14385211	0.34172	-3.777	0.20461	T	.	.	0.138	0.30238	B	.;.;.	.;.;.	4.081875	0.60724	24.3	0.98345768985101079	0.40487	0.93814	0.59268	D	AEFDGBCIJ	0.540580	0.55708	D	0.200029018372903	0.51200	3.303278	0.287063162852479	0.54782	3.642373	0.999999997774023	0.74766	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.657601	0.63696	0	.	.	4.76	4.76	0.60189	3.559000	0.53501	11.838000	0.97738	0.649000	0.52879	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.975	0.89046	401	0.82673	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	857.98	34	chr9	34125238	.	G	T	857.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.402e+00;DP=786;ExcessHet=0.0000;FS=0.842;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.34;ReadPosRankSum=2.19;SOR=0.592	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1440	20	0	1	0
chr9	34179016	34179016	T	C	exonic	UBAP1	.	startloss	UBAP1:NM_001171201:exon1:c.T2C:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	D	.	.	0.87	T	-1.046	T	0.087	T	0.029	2.337	13.77	1.89	0.061	0.175	3.865	0.028	0.0287928593235	.	.	.	.	.	.	.	.	.	.	.	.	.	rs759528561	1.177e-05	2.531e-05	6.909e-06	1.711e-05	0.0001	6.56e-06	5.06e-06	4.781e-05	2.809e-05	0	0	0	0	0	0	8.602e-06	2.242e-05	0.0001	6.579e-06	6.569e-06	1.286e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.111	0.09772	-1.0464	0.15418	T	0.087	0.33774	T	8	0.061095864	0.07607	T	0.028793	0.51417	D	.	.	.	.	0.043077524339	0.03247	0.1210789423724347	0.12034	.	.	.	.	.	.	.	.	-0.568591	0.00226	T	-0.645866	0.09246	T	0.062158178538084	0.07505	T	0.9	0.65058	D	.	.	.	.	.	.	.	.	-7.385	0.56800	T	.	.	.	.	.	.	.	1.166981	0.15563	11.94	0.80638429845767012	0.13298	0.00613	0.02718	N	ALL	0.018973	0.00619	N	-0.916727430755674	0.10451	0.4994648	-0.945244693051644	0.11033	0.5596221	1.0	0.98316	0.407012	0.06308	2	0.166054	0.03914	2	0.289072	0.05449	1	0.273489	0.05413	2	.	.	4.83	1.89	0.24700	0.200000	0.17055	1.548000	0.27274	-0.176000	0.10722	0.150000	0.23655	0.961000	0.29326	0.067000	0.16453	0.1816:0.0:0.4842:0.3342	3.865	0.08518	296	0.88164	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	540.98	35	chr9	34179016	.	T	C	540.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.840e-01;DP=744;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.21;ReadPosRankSum=0.544;SOR=0.677	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1299	20	0	1	0
chr9	34256128	34256129	AC	-	exonic	KIF24	.	frameshift deletion	KIF24:NM_194313:exon11:c.3478_3479del:p.V1160Tfs*9,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	.	3.346e-05	0.0003	0	0	0	0	0	6.431e-05	2.59e-05	4	154602	rs762729415	1.03e-05	1.026e-05	1.091e-05	9.673e-06	0.0002	6.18e-06	4.9e-06	7.73e-05	5.317e-05	0.0002	2.242e-05	0	0	1.874e-05	0	4.512e-06	1.664e-05	1.161e-05	5.913e-05	5.91e-05	7.707e-05	4.035e-05	0.0002	3.077e-05	2.21e-05	0.0001	8.451e-05	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4062.94	34	chr9	34256127	.	TAC	T	4062.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.825;DP=864;ExcessHet=0.0000;FS=0.559;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.83;ReadPosRankSum=-1.980e-01;SOR=0.610	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1064	20	0	1	0
chr9	34256749	34256749	C	T	exonic	KIF24	.	nonsynonymous SNV	KIF24:NM_194313:exon11:c.G2858A:p.G953D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.006	B	0.002	B	0.128	N	1.000	N	0.95	L	1.4	T	-1.054	T	0.039	T	0.166	1.367	10.50	1.13	0.276	1.278	6.427	0.027	0.00548203413368	0.0002	0.000998403	5.767e-05	0.0007	0	0	0	0	0	0	7.76e-05	12	154602	rs140422338	3.352e-05	3.352e-05	3.267e-05	3.438e-05	0.0010	2.566e-05	2.312e-05	0.0008	0.0007	0.0010	2.236e-05	0	0	0	0.0002	0	0.0002	1.159e-05	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	8.711e-05	0.0004	0.0003	0.0006	0	0	0	0	0	0	0	0	0	0.245	0.20456	T	0.379	0.16914	T	0.006	0.13644	B	0.002	0.06944	B	0.128072	0.18744	N	0.454258	1	0.08975	N	1.245	0.31408	L	1.4	0.33630	T	-1.8	0.42575	N	0.124	0.18239	-1.0540	0.13305	T	0.039	0.16677	T	10	0.009799868	0.00220	T	0.005482	0.14106	T	0.027	0.05988	.	.	0.517104213562	0.51352	0.0924188306998112	0.09173	.	.	0.248287439346	0.03589	T	0.003148	0.02556	T	-0.492625	0.00629	T	-0.587914	0.13846	T	0.0107211948535591	0.00151	T	0.511449	0.16356	T	0.060075898	0.12286	0.08751794	0.20348	0.060075898	0.12285	0.08751794	0.20348	-3.778	0.20506	T	.	.	0.088	0.22135	B	.;.	.;.	1.232107	0.16270	12.43	0.79524369827019337	0.12781	0.27478	0.23289	N	AEFDBI	0.101192	0.20330	N	-0.861506689747269	0.11768	0.5697399	-0.878162768684096	0.12612	0.6497615	0.999926453150897	0.46280	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.21	1.13	0.19758	0.622000	0.24127	-0.207000	0.10889	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.730000	0.35099	0.1216:0.6066:0.0:0.2717	6.427	0.20977	294	0.88270	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	833.98	34	chr9	34256749	.	C	T	833.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.348e+00;DP=999;ExcessHet=0.0000;FS=1.009;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.67;ReadPosRankSum=0.770;SOR=0.506	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:81,0:81:99:.:.:0,120,1800	20	0	1	0
chr9	34257193	34257193	G	A	exonic	KIF24	.	nonsynonymous SNV	KIF24:NM_194313:exon11:c.C2414T:p.P805L,	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.002	B	0.001	B	0.684	N	1.000	N	1.935	M	1.61	T	-1.005	T	0.076	T	0.13	0.140	4.752	1.29	-0.024	0.999	5.373	0.063	0.0107570497827	7.7e-05	.	4.118e-05	9.612e-05	8.637e-05	0	0	1.498e-05	0.0022	0	3.23e-05	5	154602	rs373496914	1.368e-05	1.368e-05	1.497e-05	1.238e-05	0.0003	8.94e-06	7.26e-06	6.092e-05	2.521e-05	0	4.472e-05	0	0	0	0.0003	8.994e-06	8.282e-05	1.159e-05	7.878e-05	7.874e-05	5.139e-05	0.0001	0.0005	4.493e-05	3.509e-05	0.0003	0.0002	0	0	0.0005	0	0	0	0.0034	2.94e-05	0.0005	0	0.067	0.35918	T	0.123	0.40267	T	0.002	0.09854	B	0.001	0.04355	B	0.684358	0.06109	N	1.194930	1	0.08975	N	2.28	0.64929	M	1.61	0.28391	T	-2.87	0.61284	D	0.098	0.15888	-1.0046	0.28577	T	0.076	0.30366	T	10	0.073420554	0.11091	T	0.010757	0.27663	T	0.063	0.18251	.	.	0.548145191872	0.54469	0.10893301391510703	0.10822	.	.	0.235316485167	0.02384	T	0.035511	0.23746	T	-0.410511	0.01972	T	-0.645919	0.09243	T	0.0521617010235786	0.05875	T	0.647535	0.25853	T	0.04433079	0.07067	0.051569592	0.08325	0.04433079	0.07066	0.051569592	0.08325	-3.412	0.15697	T	.	.	0.078	0.11269	B	.;.	.;.	1.095417	0.14792	11.33	0.90229914534275313	0.19502	0.08555	0.14468	N	AEFDBI	0.059726	0.11301	N	-0.813611982479327	0.12962	0.6353261	-0.874462478119304	0.12701	0.6548535	0.999931003666328	0.46732	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.24	1.29	0.20717	1.030000	0.29760	2.599000	0.33511	0.676000	0.76740	0.001000	0.13787	0.237000	0.23824	0.019000	0.11356	0.2478:0.1462:0.606:0.0	5.373	0.15454	294	0.88270	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2575.08	40	chr9	34257193	.	G	A	2575.08	.	AC=2;AF=0.048;AN=42;DP=1010;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.30;SOR=0.716	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	1	0	0
chr9	34311155	34311155	C	A	exonic	KIF24	.	nonsynonymous SNV	KIF24:NM_194313:exon2:c.G192T:p.M64I,	.	.	438	1082	2	0	0	2	0.000923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.794	P	0.31	B	0.000	D	0.964	D	0.345	N	2.24	T	-1.055	T	0.032	T	0.387	4.231	22.0	5.48	2.585	1.460	19.350	0.099	0.0121244190231	8.3e-05	.	5.107e-05	0	0	0	0	9.238e-05	0	0	3.88e-05	6	154602	rs377689498	1.3e-05	1.3e-05	1.226e-05	1.376e-05	1.08e-05	8.32e-06	6.7e-06	5.76e-06	4.55e-06	0	0	0	0	0	0	1.08e-05	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.207	0.28669	T	0.69	0.41631	P	0.164	0.34953	B	0.000164	0.48594	D	0.000000	0.866851	0.38395	D	0.55	0.14455	N	2.24	0.17923	T	-1.64	0.42575	N	0.272	0.35938	-1.0550	0.13040	T	0.032	0.13548	T	10	0.14586878	0.27663	T	0.012124	0.30406	T	0.099	0.28413	0.386	0.40624	0.389126455913	0.38528	0.23416050796168225	0.23331	.	.	0.573029637337	0.49106	T	0.009732	0.08837	T	-0.276701	0.11020	T	-0.449335	0.27770	T	0.16888204840963	0.18504	T	0.878612	0.59406	D	0.4084284	0.61312	0.33038193	0.58908	0.4084284	0.61312	0.33038193	0.58907	-3.532	0.16883	T	.	.	0.582	0.72136	P	.;.	.;.	3.201973	0.43545	21.8	0.99770101866998884	0.85834	0.73779	0.36088	D	AEFBCI	0.238040	0.36023	N	0.108368312040844	0.46854	2.919399	0.249554644762116	0.52625	3.436025	0.999999999942524	0.74766	0.615465	0.37627	0	0.546412	0.12157	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.48	5.48	0.80675	1.714000	0.37580	5.915000	0.51078	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	19.350	0.94368	227	0.91186	Sterile alpha motif domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1568.98	46	chr9	34311155	.	C	A	1568.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.247e+00;DP=924;ExcessHet=0.0000;FS=5.103;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=-6.680e-01;SOR=0.463	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1512	20	0	1	0
chr9	34311319	34311319	A	G	exonic	KIF24	.	nonsynonymous SNV	KIF24:NM_194313:exon2:c.T28C:p.C10R,	.	.	432	1089	0	1	0	2	0.000917431	.	.	2332350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.83	T	0.984	D	0.825	P	0.036	N	1.000	D	0.205	N	0.95	T	-1.058	T	0.101	T	0.668	3.500	17.89	5.39	2.048	4.767	15.388	0.274	0.0136335349244	.	.	8.53e-05	0	0	0.0007	0	1.883e-05	0.0014	9.446e-05	5.17e-05	8	154602	rs771597033	4.953e-05	4.994e-05	4.421e-05	5.496e-05	0.0010	4.004e-05	3.676e-05	0.0008	0.0007	0	0	0	0.0010	0	0	1.549e-05	8.461e-05	0.0001	6.566e-05	6.562e-05	3.855e-05	9.398e-05	0.0015	3.514e-05	2.614e-05	0.0008	0.0006	0	0	0	0	0.0015	0	0	0	0	0.0004	0.057	0.37966	T	0.826	0.03761	T	0.984	0.60733	D	0.825	0.59331	P	0.036116	0.24562	N	0.205916	0.999992	0.58761	D	0.55	0.14455	N	0.95	0.43279	T	-5.49	0.89211	D	0.675	0.71321	-1.0582	0.12209	T	0.101	0.37316	T	10	0.41555658	0.56517	T	0.013634	0.33179	T	0.274	0.59007	0.52	0.62217	0.711402520684	0.70887	0.5054947116060323	0.50471	.	.	0.775542616844	0.78255	T	0.061829	0.31757	T	-0.268071	0.11972	T	-0.249391	0.49878	T	0.297580726971376	0.24904	T	0.70163	0.31127	T	0.881924	0.89826	0.8019369	0.88391	0.881924	0.89827	0.8019369	0.88392	-2.013	0.03567	T	.	.	0.291	0.54116	B	.;.	.;.	4.453594	0.69252	25.3	0.99618161641422531	0.75233	0.93929	0.59602	D	AEFDBI	0.784563	0.71521	D	0.225690528173881	0.52447	3.418783	0.323525886801011	0.56927	3.856748	0.999999996357292	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.39	5.39	0.77615	5.109000	0.64456	11.145000	0.87183	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.388	0.74437	227	0.91186	Sterile alpha motif domain|Sterile alpha motif domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	692.98	46	chr9	34311319	.	A	G	692.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=859;ExcessHet=0.0000;FS=4.794;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.24;ReadPosRankSum=-1.260e-01;SOR=1.278	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1512	20	0	1	0
chr9	34371880	34371880	A	C	exonic	MYORG	.	nonsynonymous SNV	MYORG:NM_020702:exon2:c.T1064G:p.M355R,	.	.	422	1099	1	0	0	1	0.000454752	.	.	1673211	not_provided|MYORG-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.55	T	0.001	B	0.004	B	0.000	D	0.991	D	-0.745	N	1.04	T	-1.053	T	0.017	T	0.118	0.825	8.323	5.76	2.200	1.930	14.894	0.065	.	0.0039	0.00459265	0.0012	0.0139	0.0007	0	0	1.499e-05	0	6.056e-05	0.0011966	185	154602	rs115412086	0.0004	0.0004	0.0004	0.0003	0.0129	0.0003	0.0003	0.0119	0.0115	0.0129	0.0005	0	0	0	0.0003	7.195e-06	0.0007	6.956e-05	0.0037	0.0037	0.0041	0.0033	0.0132	0.0035	0.0034	0.0123	0.0119	0.0132	0	0.0007	0	0.0002	0	0	1.47e-05	0.0019	0	.	.	.	0.59	0.08217	T	0.001	0.07471	B	0.004	0.10090	B	0.000002	0.62929	D	0.093307	0.991465	0.41395	D	.	.	.	.	.	.	.	.	.	0.254	0.28732	-1.0532	0.13520	T	0.017	0.06902	T	10	0.0073263347	0.00167	T	.	.	.	0.065	0.18881	.	.	0.28722502521	0.28325	0.8662292591351466	0.86587	0.801749316156	0.66284	0.498892128468	0.38673	T	0.148865	0.48761	T	-0.525634	0.00408	T	-0.516137	0.20686	T	0.0323536950923174	0.02364	T	0.822018	0.48145	T	0.8091117	0.84494	0.65748924	0.79941	0.7952455	0.83605	0.7582081	0.85713	-3.073	0.10988	T	0.10553076656434246	0.08378	0.072	0.04277	B	.	.	2.166738	0.27606	17.52	0.89210651550829256	0.18603	0.85437	0.44569	D	AEFDBI	0.347063	0.44167	N	-0.386034455735851	0.25965	1.413556	-0.102091047162714	0.35306	2.041039	0.999999999416329	0.74766	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.635551	0.53088	0	.	.	5.76	5.76	0.90726	1.964000	0.40085	4.134000	0.42048	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.894	0.70271	264	0.89640	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2699.98	33	chr9	34371880	.	A	C	2699.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.47;DP=1183;ExcessHet=0.0000;FS=1.054;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.86;ReadPosRankSum=0.678;SOR=0.620	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1205	20	0	1	0
chr9	34500798	34500798	A	C	exonic	DNAI1	.	nonsynonymous SNV	DNAI1:NM_001281428:exon11:c.A990C:p.Q330H	Ciliary dyskinesia, primary, 1, with or without situs inversus, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	240610	Kartagener_syndrome|Primary_ciliary_dyskinesia|not_specified|not_provided	MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244,Orphanet:98861|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.64	T	0.005	B	0.01	B	0.000	D	1.000	D	1.565	L	-1.08	T	-0.966	T	0.113	T	0.412	1.163	9.734	1.37	0.338	1.602	6.794	0.296	.	0.0116	0.0101837	0.0031	0.0331	0.0015	0	0	4.515e-05	0.0056	6.122e-05	0.0029754	460	154602	rs16931555	0.0010	0.0010	0.0011	0.0009	0.0342	0.0009	0.0009	0.0326	0.0319	0.0342	0.0019	0	0	0	0.0035	3.507e-05	0.0025	9.275e-05	0.0097	0.0097	0.0099	0.0095	0.0328	0.0093	0.0091	0.0313	0.0308	0.0328	0	0.0061	0	0	0	0.0068	7.35e-05	0.0071	0	0.559	0.06401	T	0.576	0.08624	T	0.005	0.12996	B	0.01	0.14941	B	0.000000	0.84330	D	0.000000	0.985071	0.40232	D	2.06	0.56677	M	-1.08	0.77078	T	-1.93	0.44852	N	0.535	0.56748	-0.9664	0.37934	T	0.113	0.40307	T	10	0.00628832	0.00142	T	.	.	.	0.296	0.61616	0.124	0.03018	0.82742518124	0.82579	0.6519240489992135	0.65128	0.108361906131	0.12219	0.625535845757	0.56512	T	0.031436	0.53388	T	-0.346298	0.04963	T	-0.244447	0.50362	T	0.00384680393901335	0.00041	T	0.89931	0.64723	D	0.16033365	0.35968	0.11618998	0.28049	0.18749651	0.40206	0.14885767	0.35170	-7.939	0.60653	D	0.12992243754010682	0.13618	0.211	0.43935	B	.;.	.;.	2.197039	0.28021	17.66	0.86045798238912619	0.16278	0.31774	0.24422	N	ALL	0.315613	0.42013	N	-0.445455935132924	0.23894	1.286391	-0.320149962067001	0.27448	1.523159	0.999999948734795	0.74766	0.648878	0.45929	0	0.596394	0.48810	0	0.440796	0.06475	0	0.636	0.56748	0	.	.	4.99	1.37	0.21200	1.900000	0.39460	1.945000	0.29852	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.6164:0.0:0.3836:0.0	6.794	0.22901	293	0.88320	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	3625.98	42	chr9	34500798	.	A	C	3625.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=1101;ExcessHet=0.0000;FS=0.460;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.39;ReadPosRankSum=-1.513e+00;SOR=0.754	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,120,1527	20	0	1	0
chr9	34622035	34622035	C	T	exonic	ARID3C	.	nonsynonymous SNV	ARID3C:NM_001017363:exon6:c.G1123A:p.G375R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.415	M	0.94	T	-0.537	T	0.218	T	0.944	4.524	24.4	5.03	2.612	7.651	17.535	0.705	.	7.7e-05	0.00279553	0.0005	0	0.0002	0.0064	0	1.498e-05	0.0011	0.0002	0.0004916	76	154602	rs142710890	0.0002	0.0002	0.0003	0.0002	0.0059	0.0002	0.0002	0.0053	0.0051	0	2.236e-05	0	0.0059	0	0.0002	5.576e-05	0.0003	0.0004	0.0004	0.0004	0.0003	0.0004	0.0077	0.0003	0.0003	0.0058	0.0052	2.408e-05	0	0.0004	0	0.0077	0	0	4.412e-05	0.0005	0.0006	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000254	0.46924	D	0.000000	0.999987	0.54805	D	2.9	0.83903	M	0.94	0.43672	T	-6.16	0.90215	D	0.975	0.98563	-0.5369	0.67281	T	0.218	0.58111	T	10	0.027806848	0.00920	T	.	.	.	0.705	0.89422	0.767	0.89452	0.68772318637	0.68504	0.8902513690267346	0.88995	1.00411457125	0.74521	0.813988447189	0.84105	D	0.207108	0.56666	T	-0.0627316	0.42480	T	0.143087	0.79744	D	0.102552445627987	0.12635	T	0.930407	0.74231	D	0.80061907	0.83945	0.67771757	0.81071	0.80061907	0.83946	0.67771757	0.81072	-10.619	0.77528	D	.	.	0.723	0.73909	P	.	.	5.311446	0.89163	29.9	0.99911655409330258	0.98095	0.99181	0.92424	D	AEFBI	0.943217	0.94877	D	0.83810052144494	0.88421	9.571719	0.797669454935617	0.89631	10.05517	1.0	0.98316	0.516011	0.20929	0	0.610034	0.51514	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	5.03	5.03	0.67015	7.860000	0.85401	7.699000	0.66186	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	17.535	0.87726	270	0.89404	REKLES domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1773.98	35	chr9	34622035	.	C	T	1773.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=864;ExcessHet=0.0000;FS=3.652;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=-6.150e-01;SOR=0.722	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr9	34657139	34657139	A	C	exonic	IL11RA	.	nonsynonymous SNV	IL11RA:NM_001142784:exon5:c.A436C:p.T146P,	Craniosynostosis and dental anomalies, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.989	D	0.885	P	0.148	N	0.551	D	1.905	M	1.28	T	-0.759	T	0.150	T	0.78	3.246	16.88	2.95	0.872	1.216	7.176	0.205	0.0328738777869	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs775152788	2.737e-06	2.736e-06	2.724e-06	2.751e-06	0.0002	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.58626	T	0.015	0.61642	D	0.989	0.62824	D	0.885	0.62825	P	0.148172	0.18057	N	0.603439	0.551392	0.32136	D	2.485	0.72352	M	1.28	0.35960	T	-0.71	0.61435	N	0.779	0.77789	-0.7590	0.57460	T	0.150	0.47681	T	10	0.37123078	0.53491	T	0.032874	0.54583	D	0.205	0.49236	0.488	0.57257	0.60221348894	0.59903	0.852270126112104	0.85189	0.797227952775	0.66088	0.464661836624	0.33949	T	0.207784	0.56752	T	0.0689205	0.60716	T	-0.138777	0.60223	T	0.915119349956512	0.57202	D	0.792821	0.43457	T	0.6445447	0.75073	0.37954012	0.63006	0.6445447	0.75074	0.37954012	0.63006	-8.527	0.64608	D	0.5368919399211232	0.60703	0.268	0.68913	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.907720	0.56965	23.8	0.99575010622998084	0.72621	0.71490	0.35035	D	AEFBCI	0.492399	0.52906	N	0.364226299264719	0.59494	4.129365	0.32062596037949	0.56752	3.839167	0.99630675085596	0.34656	0.661447	0.50134	0	0.694456	0.67091	0	0.644132	0.48003	0	0.59522	0.37078	0	.	.	5.32	2.95	0.33285	1.420000	0.34411	4.578000	0.43908	0.740000	0.86194	0.999000	0.42656	1.000000	0.68203	0.999000	0.91618	0.8154:0.0:0.1846:0.0	7.176	0.24921	337	0.86119	Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III;Fibronectin type III;Fibronectin type III|Fibronectin type III;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1313.98	34	chr9	34657139	.	A	C	1313.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=805;ExcessHet=0.0000;FS=6.334;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.10;ReadPosRankSum=0.253;SOR=0.249	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,104,1660	20	0	1	0
chr9	34662371	34662371	C	T	exonic	CCL27	.	nonsynonymous SNV	CCL27:NM_006664:exon2:c.G116A:p.R39Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.31	B	0.082	B	0.005	N	0.912	N	1.935	M	1.53	T	-1.028	T	0.070	T	0.233	2.843	15.47	3.54	0.760	0.457	8.759	0.015	0.017444390458	.	.	5.773e-05	9.617e-05	8.657e-05	0	0	0	0.0022	0.0002	4.53e-05	7	154602	rs777698595	3.215e-05	3.215e-05	1.361e-05	5.088e-05	0.0004	2.478e-05	2.22e-05	0.0003	0.0003	0	4.472e-05	0	0	1.873e-05	0.0002	6.295e-06	1.656e-05	0.0004	1.315e-05	1.313e-05	1.285e-05	1.346e-05	4.83e-05	2.18e-06	8.2e-07	8.01e-06	2.99e-06	4.83e-05	0	0	0	0	0	0	0	0	0	0.029	0.45756	D	0.0	0.92824	D	0.31	0.32798	B	0.082	0.29098	B	0.005133	0.33071	N	0.136906	0.911737	0.27492	N	1.245	0.31408	L	1.53	0.30401	T	-1.42	0.34992	N	0.232	0.26111	-1.0276	0.21233	T	0.070	0.28577	T	10	0.10267502	0.18833	T	0.017444	0.39139	T	0.015	0.02232	.	.	0.452450644169	0.44866	0.24395172723612887	0.24309	0.108079722207	0.12183	0.298809081316	0.10224	T	0.050358	0.28572	T	-0.425115	0.01587	T	-0.548101	0.17507	T	0.0377103737833996	0.03281	T	0.732227	0.34774	T	0.11883828	0.27992	0.10235029	0.24528	0.11883828	0.27992	0.10235029	0.24527	-3.199	0.12468	T	.	.	0.079	0.07083	B	.	.	2.481593	0.32005	18.91	0.99439024640303675	0.64670	0.56666	0.30176	D	AEFBI	0.188146	0.31543	N	-0.270432508829438	0.30295	1.687882	-0.183186927153491	0.32154	1.826511	0.99995591773755	0.48110	0.615465	0.37627	0	0.550933	0.16991	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.37	3.54	0.39650	0.609000	0.23935	0.627000	0.20189	-0.189000	0.09497	0.685000	0.28485	0.960000	0.29291	0.897000	0.43391	0.0:0.8238:0.0:0.1762	8.759	0.33824	342	0.85871	Chemokine interleukin-8-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1582.98	40	chr9	34662371	.	C	T	1582.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=841;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=0.371;SOR=0.723	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1306	20	0	1	0
chr9	34725207	34725207	C	T	exonic	FAM205A	.	nonsynonymous SNV	FAM205A:NM_001141917:exon4:c.G2033A:p.S678N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.0	B	0.001	B	.	.	1.000	N	0.145	N	0.45	T	-1.042	T	0.068	T	0.022	0.433	6.353	-0.255	-0.206	-0.666	5.385	0.049	0.0245770591433	.	0.00119808	0.0003	0.0024	0	0	0	0.0001	0	0	3.88e-05	6	154602	rs556239931	3.812e-05	5.756e-05	3.703e-05	3.923e-05	0.0009	2.947e-05	2.664e-05	0.0006	0.0005	0.0008	0	0	0	0	0.0009	5.872e-06	0.0002	1.28e-05	8.352e-05	9.878e-05	8.086e-05	8.637e-05	0.0003	4.745e-05	3.708e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	0	0	0	0.242	0.17584	T	0.242	0.24264	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	0.45	0.56446	T	-1.63	0.39119	N	0.028	0.00618	-1.0415	0.16860	T	0.068	0.27743	T	9	0.014147311	0.00298	T	0.024577	0.47567	T	0.049	0.13647	0.624	0.75916	0.0401082797425	0.02173	0.04940649182539	0.04883	.	.	0.323033839464	0.13880	T	0.008985	0.08212	T	-0.369888	0.03600	T	-0.769095	0.02797	T	0.00507115388844504	0.00055	T	0.330567	0.06924	T	0.065355726	0.13958	0.08161369	0.18561	0.065355726	0.13957	0.08161369	0.18560	-5.941	0.45783	T	.	.	0.077	0.06617	B	.	.	0.159635	0.05504	1.968	0.62851413132409439	0.07069	0.01135	0.04122	N	AEFGI	0.025316	0.01713	N	-1.48562501304301	0.01951	0.08565248	-1.47895900855827	0.02517	0.1159103	0.235732247500416	0.18516	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.21	-0.255	0.12346	-1.104000	0.03436	-3.246000	0.02938	-2.066000	0.00410	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.1441:0.551:0.0:0.3048	5.385	0.15514	459	0.78817	SPATA31/FAM205	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	103.33	30	chr9	34725207	.	C	T	103.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.823e+00;DP=716;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=33.93;MQRankSum=-8.830e-01;QD=2.58;ReadPosRankSum=-6.050e-01;SOR=0.293	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1485	19	0	1	1
chr9	35079505	35079505	G	A	exonic	FANCG	.	nonsynonymous SNV	FANCG:NM_004629:exon1:c.C20T:p.S7F,	Fanconi anemia, complementation group G	YES	0	1488	33	1	0	35	0.011624	.	.	138097	not_provided|Fanconi_anemia|Fanconi_anemia_complementation_group_G|not_specified	MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0013565,MedGen:C3469527,OMIM:614082,Orphanet:84|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.119	B	0.014	B	.	.	1.000	N	0	N	0.49	T	-0.923	T	0.179	T	0.163	2.019	12.71	2.0	0.325	-0.039	2.869	0.062	.	0.0012	0.00299521	0.0030	0.0002	0.0016	0	0	0.0032	0.0088	0.0073	0.0026972	417	154602	rs35984312	0.0019	0.0019	0.0017	0.0021	0.0088	0.0019	0.0018	0.0069	0.0065	0.0002	0.0017	0.0374	5.038e-05	7.501e-05	0.0088	0.0007	0.0048	0.0072	0.0017	0.0017	0.0015	0.0020	0.0100	0.0015	0.0015	0.0077	0.0069	7.214e-05	0	0.0010	0.0337	0	0	0.0306	0.0010	0.0019	0.0100	0.028	0.46129	D	0.135	0.34837	T	0.119	0.26641	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	0.49	0.78645	T	-0.84	0.24898	N	0.176	0.18920	-0.9232	0.45112	T	0.179	0.52520	T	9	0.0034295917	0.00060	T	.	.	.	0.062	0.17934	.	.	0.824232542968	0.82256	0.12471963206660289	0.12397	0.242843023396	0.26785	0.250848591328	0.03858	T	0.122376	0.44600	T	-0.431514	0.01452	T	-0.388472	0.34731	T	0.00525606276393134	0.00057	T	0.633437	0.24845	T	0.027672175	0.01993	0.03579487	0.02898	0.027433848	0.01935	0.035762858	0.02889	-5.688	0.43587	T	.	.	0.108	0.20547	B	.;.	.;.	1.459592	0.18817	13.94	0.81733467472474131	0.13832	0.02816	0.07548	N	AEFDGBCIJ	0.047551	0.08020	N	-0.927267469867783	0.10208	0.4867032	-0.921733248751573	0.11582	0.5909083	0.999999833832846	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.581474	0.35302	0	.	.	4.96	2.0	0.25495	-0.040000	0.12056	-0.007000	0.13116	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1023:0.1673:0.5346:0.1957	2.869	0.05267	94	0.96106	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.04762	4984.08	38	chr9	35079505	.	G	A	4984.08	.	AC=2;AF=0.048;AN=42;DP=980;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.81;SOR=0.776	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	1	0	0
chr9	35295883	35295883	C	A	exonic	UNC13B	.	nonsynonymous SNV	UNC13B:NM_001330653:exon8:c.C714A:p.D238E	.	.	435	1048	37	2	0	41	0.0191858	.	.	700991	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.1	T	0.884	P	0.167	B	0.001	D	0.973	D	1.935	M	1.09	T	-0.472	T	0.281	T	0.381	2.735	15.11	1.96	-0.083	1.777	12.280	0.145	.	0.0106	0.00479233	0.0084	0.0021	0.0074	0	0	0.0122	0.0167	0.0044	0.0081047	1253	154602	rs35199210	0.0096	0.0096	0.0096	0.0097	0.0333	0.0095	0.0094	0.0294	0.0280	0.0025	0.0102	0.0514	0	0.0002	0.0333	0.0097	0.0136	0.0040	0.0077	0.0077	0.0080	0.0073	0.0110	0.0073	0.0072	0.0097	0.0092	0.0019	0.0033	0.0110	0.0521	0.0006	9.434e-05	0.0102	0.0099	0.0170	0.0037	0.004	0.65419	D	0.171	0.33780	T	0.884	0.48618	P	0.138	0.33406	B	0.000984	0.40743	D	0.236533	0.972537	0.38954	D	2.35	0.67516	M	-1.98	0.85247	D	-0.37	0.14000	N	0.588	0.60833	-0.4719	0.69658	T	0.281	0.65299	T	10	0.0052330196	0.00114	T	.	.	.	0.145	0.38592	0.148	0.05138	0.660788651602	0.65794	0.19109466861837113	0.19027	0.263833591492	0.28942	0.610554933548	0.54395	T	0.016412	0.43235	T	-0.275902	0.11107	T	-0.159695	0.58380	T	0.0356482401155776	0.02920	T	0.89601	0.67171	D	0.08653681	0.20117	0.09496227	0.22500	0.08653681	0.20117	0.09496227	0.22500	-3.877	0.21958	T	.	.	0.263	0.65078	B	.;.;.;.	.;.;.;.	1.389786	0.18026	13.50	0.99145607044478112	0.53655	0.97075	0.72544	D	AEFBI	0.589649	0.58645	D	-0.393676163815362	0.25693	1.396658	-0.328153910817774	0.27193	1.507234	0.018091049775015	0.13020	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.8	1.96	0.25203	1.824000	0.38710	0.129000	0.15021	-0.231000	0.07715	1.000000	0.71638	0.944000	0.28851	0.993000	0.69303	0.0:0.7439:0.0:0.2561	12.280	0.54079	167	0.93508	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2287.98	38	chr9	35295883	.	C	A	2287.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.153;DP=855;ExcessHet=0.0000;FS=5.080;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.76;ReadPosRankSum=-3.760e-01;SOR=1.132	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1296	20	0	1	0
chr9	35305678	35305678	A	G	exonic	UNC13B	.	nonsynonymous SNV	UNC13B:NM_001371189:exon9:c.A6274G:p.S2092G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs964456751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13081121	0.24895	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291471	0.05330	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05017	B	.	.	-0.053130	0.03930	0.872	0.63437546092968722	0.07224	0.04183	0.09684	N	AEFBI	.	.	.	.	.	.	.	.	.	0.102386546263082	0.16413	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.062806	0.01542	0	0.0455939	0.04545	5.94	-0.312	0.12125	0.197000	0.16999	1.404000	0.26222	-0.054000	0.16847	0.000000	0.06391	0.004000	0.18990	0.067000	0.16453	0.5281:0.0:0.4719:0.0	10.511	0.44051	137	0.94565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	45.92	70	chr9	35305678	.	A	G	45.92	.	AC=2;AF=0.200;AN=10;DP=70;ExcessHet=0.0000;FS=0.000;MLEAC=4;MLEAF=0.400;MQ=60.00;QD=22.96;SOR=0.693	GT:AD:DP:GQ:PL	./.	4	1	0	16
chr9	35353075	35353075	C	T	exonic	UNC13B	.	nonsynonymous SNV	UNC13B:NM_001371187:exon2:c.C1549T:p.L517F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.26e-07	6.84e-07	0	1.962e-06	1.087e-06	0	0	.	.	0	0	0	0	0	0	1.087e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16703239	0.31174	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364964	0.08484	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.02145	B	.	.	1.730464	0.22026	15.45	0.75662276150812302	0.11162	0.01003	0.03794	N	AEFBI	.	.	.	.	.	.	.	.	.	0.731608653119059	0.23054	0.099367	0.02607	0	0.066906	0.01782	0	0.063197	0.01477	0	0.117559	0.03655	0	0.133481	0.26119	5.47	0.061	0.13654	1.061000	0.30152	0.665000	0.20538	-0.780000	0.03343	0.169000	0.23921	0.981000	0.30433	0.808000	0.38083	0.0:0.3747:0.169:0.4563	6.612	0.21952	129	0.94817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	38.87	62	chr9	35353075	.	C	T	38.87	.	AC=2;AF=0.111;AN=18;DP=62;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=0.111;MQ=60.00;QD=19.43;SOR=0.693	GT:AD:DP:GQ:PL	./.	8	1	0	12
chr9	35556059	35556059	C	T	exonic	RUSC2	.	nonsynonymous SNV	RUSC2:NM_001330740:exon3:c.C130T:p.R44W	.	.	432	1085	5	0	0	5	0.00229885	.	.	1434084	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.99	D	0.425	B	0.006	N	0.997	N	0.55	N	1.71	T	-1.059	T	0.033	T	0.21	1.492	10.94	2.44	0.619	1.627	2.983	0.100	0.0194022210258	.	.	7.415e-05	0	0	0.0001	0	0	0	0.0005	5.82e-05	9	154602	rs776792847	3.831e-05	3.831e-05	2.859e-05	4.813e-05	0.0005	3.025e-05	2.719e-05	0.0004	0.0003	0	2.236e-05	0	7.557e-05	0	0.0002	4.496e-06	4.967e-05	0.0005	3.943e-05	3.94e-05	2.57e-05	5.38e-05	0.0008	1.715e-05	1.129e-05	0.0003	0.0002	0	0	0	0	0	0	0	2.94e-05	0	0.0008	0.094	0.31383	T	0.146	0.32891	T	0.99	0.63424	D	0.425	0.45259	B	0.005920	0.32413	N	0.306687	0.996763	0.22909	N	1.355	0.33814	L	1.71	0.26737	T	0.08	0.06026	N	0.243	0.27435	-1.0594	0.11905	T	0.033	0.14160	T	10	0.081760824	0.13421	T	0.019402	0.41752	T	0.100	0.28662	0.452	0.51448	0.196089822672	0.19227	0.6625797587331287	0.66194	0.549784764772	0.51865	0.372603625059	0.21205	T	0.02521	0.18894	T	-0.45299	0.01084	T	-0.552206	0.17114	T	0.151630142629902	0.17233	T	0.805419	0.45334	T	0.038750775	0.05221	0.031546734	0.01758	0.038750775	0.05221	0.031546734	0.01758	-6.164	0.47631	T	.	.	0.103	0.19398	B	.;.	.;.	4.063087	0.60307	24.2	0.98324259885792864	0.40270	0.84484	0.43566	D	AEFDBI	0.343759	0.43947	N	-0.128740911714525	0.36143	2.085313	-0.0784781011652609	0.36281	2.109443	0.999971776965235	0.50053	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.34	2.44	0.28875	1.713000	0.37570	2.717000	0.34282	-0.942000	0.02081	0.976000	0.34826	0.999000	0.35428	0.941000	0.48210	0.1465:0.5566:0.1418:0.155	2.983	0.05597	200	0.92234	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1264.98	39	chr9	35556059	.	C	T	1264.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.233e+00;DP=826;ExcessHet=0.0000;FS=1.540;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=-6.710e-01;SOR=0.551	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1344	20	0	1	0
chr9	35562551	35562551	C	T	exonic	FAM166B	.	nonsynonymous SNV	FAM166B:NM_001164310:exon5:c.G568A:p.A190T,	.	.	.	.	.	.	.	.	.	.	.	3419173	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.994	D	0.771	P	0.479	U	0.957	D	1.87	L	0.89	T	-0.895	T	0.220	T	0.559	3.258	16.93	5.12	2.518	2.333	14.404	0.218	0.0314797732491	0.0002	0.000199681	0.0001	0.0012	0	0.0003	0	0	0	0	5.17e-05	8	154602	rs370211215	1.811e-05	1.984e-05	1.795e-05	1.827e-05	0.0002	1.26e-05	1.071e-05	9.915e-05	7.056e-05	0.0002	9.952e-05	0	0.0002	0	0	1.819e-06	8.39e-05	1.22e-05	0.0003	0.0003	0.0004	0.0003	0.0011	0.0003	0.0002	0.0008	0.0007	0.0011	0	0.0001	0	0	0	0	2.94e-05	0.0005	0	0.054	0.38633	T	0.304	0.20100	T	0.994	0.66517	D	0.771	0.56890	P	0.478668	0.04968	U	1.858690	0.956719	0.37988	D	2.19	0.61577	M	0.89	0.45636	T	-2.09	0.47683	N	0.516	0.54671	-0.8947	0.48512	T	0.220	0.58345	T	10	0.1764125	0.32624	T	0.03148	0.53550	D	0.218	0.51265	.	.	0.420322003156	0.41653	0.4568048506430784	0.45598	0.26318994308	0.28875	0.538396835327	0.44219	T	0.013074	0.11376	T	-0.36606	0.03799	T	-0.354944	0.38638	T	0.144023006353811	0.16616	T	0.783822	0.42110	T	0.11753091	0.27705	0.15865447	0.37039	0.11753091	0.27705	0.15865447	0.37038	-9.012	0.67775	D	.	.	0.188	0.40489	B	.	.	3.445403	0.47949	22.5	0.9977580647052714	0.86346	0.79265	0.39245	D	AEFDBCI	.	.	.	0.54067634691976	0.69516	5.368058	0.532480828952919	0.70187	5.468625	0.999999920990033	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	5.12	5.12	0.69459	2.370000	0.43893	3.277000	0.37202	0.599000	0.40250	0.973000	0.34540	1.000000	0.68203	0.246000	0.23158	0.0:1.0:0.0:0.0	14.404	0.66638	203	0.92088	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1665.98	100	chr9	35562551	.	C	T	1665.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=1142;ExcessHet=0.0000;FS=3.282;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.88;ReadPosRankSum=0.032;SOR=0.521	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1400	20	0	1	0
chr9	35712861	35712866	GGTCCC	-	exonic	TLN1	.	nonframeshift deletion	TLN1:NM_006289:exon27:c.3530_3535del:p.G1177_P1179delinsA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	969.94	35	chr9	35712860	.	GGGTCCC	G	969.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.480e-01;DP=756;ExcessHet=0.0000;FS=2.606;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.64;ReadPosRankSum=1.85;SOR=0.330	GT:AD:DP:GQ:PL	0/1:22,25:47:99:984,0,828	20	0	1	0
chr9	35733409	35733409	T	C	exonic	CREB3	.	nonsynonymous SNV	CREB3:NM_006368:exon4:c.T359C:p.L120P,	.	.	432	1085	5	0	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.001	N	0.950	D	2.295	M	-1.86	D	0.443	D	0.700	D	0.532	3.212	16.76	3.62	0.768	3.688	8.684	0.413	0.198557359269	0.0002	.	0.0004	9.61e-05	0	0	0	0.0005	0.0011	0.0007	0.0003687	57	154602	rs138981526	0.0003	0.0003	0.0002	0.0003	0.0023	0.0003	0.0003	0.0013	0.0011	0.0003	0.0002	0	0	0.0001	0.0023	0.0003	0.0006	0.0006	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	9.623e-05	0	0.0004	0.0003	0	0.0002	0.0068	0.0004	0.0014	0.0002	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	0.001265	0.39594	N	0.162830	0.949627	0.37660	D	.	.	.	-1.86	0.84341	D	-3.75	0.71157	D	0.909	0.91047	0.443	0.89735	D	0.700	0.89675	D	10	0.80452466	0.79809	D	0.198557	0.86602	D	0.413	0.72404	.	.	0.920375182014	0.91957	0.48027048680303863	0.47947	0.749165256584	0.63679	0.488472253084	0.37226	T	.	.	.	-0.101895	0.36110	T	-0.0347099	0.68055	D	0.210623268406907	0.20986	T	0.679332	0.28809	T	0.8198506	0.85210	0.8081791	0.88784	0.8198506	0.85211	0.8081791	0.88785	-7.452	0.57272	T	.	.	0.643	0.70658	P	.	.	3.254565	0.44482	21.9	0.99558896403004848	0.71645	0.44723	0.27381	N	ALL	0.556675	0.56662	D	-0.117776607564711	0.36617	2.119087	-0.316015961609269	0.27581	1.531474	0.999999999968082	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.79	3.62	0.40616	3.954000	0.56414	6.194000	0.54806	-0.263000	0.06870	0.315000	0.25459	1.000000	0.68203	0.024000	0.12247	0.17:0.0:0.0:0.83	8.684	0.33389	107	0.95615	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2196.98	33	chr9	35733409	.	T	C	2196.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.28;DP=867;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=-8.340e-01;SOR=0.730	GT:AD:DP:GQ:PL	0/1:74,85:159:99:2211,0,1556	20	0	1	0
chr9	35752127	35752127	G	A	exonic	RGP1	.	nonsynonymous SNV	RGP1:NM_001080496:exon8:c.G934A:p.G312S,	.	.	435	1080	6	1	0	8	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	0.256	B	0.262	B	0.000	D	1.000	D	0.19	N	.	.	-1.078	T	0.009	T	0.842	2.989	15.97	5.95	2.826	8.715	19.36	0.236	.	0.0002	0.01877	0.0086	0.0003	0.0004	0.0903	0.0093	0.0010	0.0156	0.0032	0.007322	1132	154602	rs117436169	0.0034	0.0034	0.0034	0.0034	0.0846	0.0033	0.0033	0.0822	0.0812	0.0002	0.0003	0	0.0846	0.0102	0.0005	0.0004	0.0053	0.0030	0.0041	0.0041	0.0031	0.0050	0.0768	0.0038	0.0037	0.0706	0.0682	0.0005	0	0.0009	0	0.0768	0.0088	0	0.0008	0.0043	0.0066	0.168	0.23007	T	0.528	0.10173	T	0.256	0.31372	B	0.262	0.39564	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.06	0.26948	L	.	.	.	0.28	0.04233	N	0.817	0.81261	-1.0783	0.07681	T	0.009	0.03359	T	9	0.008027047	0.00182	T	.	.	.	0.236	0.53931	.	.	0.223847106136	0.22009	0.5677121351429831	0.56699	0.235098826708	0.26036	0.756472826004	0.75405	T	0.006811	0.06237	T	-0.0607059	0.42797	T	0.203403	0.83313	D	0.0214643458364821	0.00850	T	0.891311	0.62583	D	0.20490862	0.42616	0.25338176	0.50985	0.20490862	0.42616	0.25338176	0.50984	-6.327	0.48936	T	.	.	0.103	0.18497	B	.	.	3.455889	0.48149	22.6	0.98518281409734576	0.42434	0.99418	0.95776	D	AEFDBI	0.931516	0.92045	D	0.0355887456048824	0.43481	2.640117	0.271499661492494	0.53881	3.555123	1.0	0.98316	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.95	5.95	0.96415	8.868000	0.91959	10.018000	0.83123	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.36	0.94422	98	0.95963	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2311.98	37	chr9	35752127	.	G	A	2311.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.79;DP=941;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=-1.828e+00;SOR=0.665	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr9	35753173	35753173	C	A	exonic	MSMP	.	nonsynonymous SNV	MSMP:NM_001044264:exon3:c.G347T:p.G116V,	.	.	422	1094	6	0	0	6	0.00273473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.153	B	0.106	B	.	.	0.000	P	-0.695	N	0.93	T	-1.016	T	0.000	T	0.301	1.234	10.01	5.02	1.500	2.485	7.414	0.066	.	0.0007	0.0361422	0.0135	0.0013	0.0008	0.1655	0.0131	0.0010	0.0089	0.0018	0.0126712	1959	154602	rs3750436	0.0062	0.0062	0.0063	0.0060	0.1815	0.0060	0.0060	0.1780	0.1766	0.0006	0.0006	0	0.1815	0.0109	0.0014	0.0003	0.0104	0.0027	0.0075	0.0075	0.0061	0.0088	0.1671	0.0071	0.0069	0.1578	0.1541	0.0013	0	0.0008	0	0.1671	0.0110	0	0.0007	0.0062	0.0056	0.503	0.07670	T	0.11	0.37310	T	0.153	0.28093	B	0.106	0.31143	B	.	.	.	.	1.16733e-05	0.58761	P	0	0.06538	N	0.93	0.44065	T	0.99	0.01428	N	0.118	0.10769	-1.0165	0.24852	T	0.000	0.00039	T	8	0.001380384	0.00015	T	.	.	.	0.066	0.19193	.	.	.	.	0.24757079640618967	0.24671	0.240604551926	0.26601	0.451119184494	0.32097	T	7.37E-4	0.00340	T	-0.597154	0.00152	T	-0.486727	0.23735	T	0.0142331391322325	0.00281	T	0.622538	0.23960	T	0.1333022	0.31009	0.12868968	0.30956	0.1333022	0.31009	0.12868968	0.30955	-3.059	0.10831	T	.	.	0.084	0.09723	B	.	.	2.579094	0.33439	19.34	0.93809489873158869	0.23783	0.97741	0.76797	D	AEFBI	0.350922	0.44420	N	-0.319083255113372	0.28424	1.567623	-0.0696355096108329	0.36653	2.135764	0.999999101552301	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.92	5.02	0.66742	1.427000	0.34489	4.955000	0.46306	0.599000	0.40250	0.974000	0.34632	1.000000	0.68203	0.999000	0.91618	0.0:0.7248:0.0:0.2751	7.414	0.26205	100	0.95872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1192.98	34	chr9	35753173	.	C	A	1192.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.527e+00;DP=788;ExcessHet=0.0000;FS=1.706;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=0.127;SOR=0.574	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr9	35819257	35819257	G	A	exonic	FAM221B	.	nonsynonymous SNV	FAM221B:NM_001012446:exon5:c.C991T:p.R331C,	.	.	.	.	.	.	.	.	.	.	.	3256355	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	.	.	1.000	D	2.645	M	2.15	T	-0.818	T	0.155	T	0.812	4.637	25.4	5.1	2.372	5.986	14.081	0.378	0.0537780533208	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1020047743	5.074e-05	4.857e-05	4.935e-05	5.216e-05	0.0002	4.101e-05	3.765e-05	4.306e-05	3.942e-05	6.33e-05	5.602e-05	0	0	0	0.0002	5.468e-05	8.62e-05	2.524e-05	4.599e-05	4.597e-05	5.139e-05	4.033e-05	0.0001	2.109e-05	1.527e-05	2.261e-05	1.124e-05	2.412e-05	0	0.0001	0	0	0	0	5.879e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.994	0.82059	D	.	.	.	.	0.999157	0.81001	D	3.09	0.87444	M	2.15	0.19311	T	-6.74	0.92648	D	0.542	0.56919	-0.8176	0.54084	T	0.155	0.48568	T	9	0.5461857	0.63997	D	0.053778	0.65601	D	0.378	0.69612	0.609	0.74182	0.365703291355	0.36175	0.5450133528081467	0.54427	0.449931876917	0.44771	0.58788728714	0.51196	T	0.089812	0.38451	T	0.011457	0.53223	T	-0.0987747	0.63492	T	0.962148070335388	0.66283	D	0.760924	0.38541	T	0.41903374	0.62027	0.43480104	0.66988	0.41903374	0.62027	0.43480104	0.66988	-8.996	0.67672	D	.	.	0.301	0.53087	B	.	.	4.989533	0.82714	27.9	0.99927591463820231	0.99163	0.91752	0.54188	D	AEFI	0.770602	0.70550	D	0.797679054493171	0.85962	8.734929	0.746098364251482	0.85866	8.709907	0.999997326073327	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.1	5.1	0.68917	6.067000	0.70831	5.189000	0.47892	-0.110000	0.15115	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	14.081	0.64447	147	0.94143	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1236.98	40	chr9	35819257	.	G	A	1236.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.76;DP=838;ExcessHet=0.0000;FS=0.729;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=-5.300e-02;SOR=0.616	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr9	35846541	35846541	C	T	exonic	TMEM8B	.	nonsynonymous SNV	TMEM8B:NM_001363625:exon4:c.C799T:p.R267W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0054	0.00599042	0.0029	0.0299	0.0006	0	0	5.632e-05	0	0	0.0012419	192	154602	rs16932715	0.0005	0.0005	0.0006	0.0004	0.0167	0.0005	0.0005	0.0156	0.0151	0.0167	0.0008	0	0	0	0.0023	3.107e-05	0.0013	0.0001	0.0047	0.0047	0.0053	0.0041	0.0164	0.0044	0.0043	0.0153	0.0149	0.0164	0	0.0019	0	0	0	0	4.409e-05	0.0038	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.02381	696.98	45	chr9	35846541	.	C	T	696.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.070e+00;DP=826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.15;ReadPosRankSum=-4.840e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,114,1706	20	0	1	0
chr9	35870274	35870274	G	A	exonic	OR13J1	.	nonsynonymous SNV	OR13J1:NM_001004487:exon1:c.C128T:p.T43I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.071	B	0.023	B	0.787	N	1.000	N	-0.09	N	7.41	T	-1.031	T	0.000	T	0.112	0.541	6.931	3.88	1.612	-0.086	7.346	0.082	.	0.0050	0.00638978	0.0015	0.0159	0.0005	0	0	8.996e-05	0	0	0.0014683	227	154602	rs144077026	0.0005	0.0005	0.0006	0.0004	0.0165	0.0005	0.0004	0.0154	0.0149	0.0165	0.0008	0	0	0	0.0028	1.619e-05	0.0013	9.275e-05	0.0047	0.0047	0.0052	0.0042	0.0163	0.0044	0.0043	0.0153	0.0149	0.0163	0	0.0017	0	0.0002	0	0	2.94e-05	0.0033	0.0002	0.193	0.20912	T	0.349	0.17531	T	0.071	0.23930	B	0.023	0.19966	B	0.787441	0.09424	N	0.889056	1	0.08975	N	-0.425	0.02884	N	7.41	0.00408	T	-2.17	0.49018	N	0.092	0.07125	-1.0312	0.20066	T	0.000	0.00075	T	10	0.0033171773	0.00057	T	.	.	.	0.082	0.23913	.	.	0.243972157842	0.24002	0.16897811184960884	0.16817	0.127045522355	0.14318	0.291860371828	0.09192	T	0.041253	0.25798	T	-0.675348	0.00051	T	-0.729241	0.04361	T	0.00747700061376532	0.00086	T	0.059994	0.00436	T	0.08708164	0.20264	0.13926724	0.33235	0.08708164	0.20264	0.13926724	0.33234	-4.564	0.31716	T	.	.	0.106	0.19760	B	.	.	1.148839	0.15371	11.80	0.97875406184954661	0.36560	0.04113	0.09586	N	AEFGBI	0.071242	0.14175	N	-0.777900679042451	0.13887	0.687475	-0.684083231936986	0.17358	0.9226465	0.986255369770984	0.31031	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.78	3.88	0.43959	-0.190000	0.09612	-0.728000	0.07675	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.744000	0.35576	0.189:0.0:0.811:0.0	7.346	0.25839	238	0.90711	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	810.98	40	chr9	35870274	.	G	A	810.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.225e+00;DP=862;ExcessHet=0.0000;FS=1.873;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.01;ReadPosRankSum=-8.200e-01;SOR=0.499	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1193	20	0	1	0
chr9	35906589	35906589	-	CCACCACCA	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.302_303insCCACCACCA:p.H105_P106insHHH,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	7124.21	33	chr9	35906586	.	TCCA	T,TCCACCACCACCA,TCCACCACCA,TCCACCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA,TCCACCACCACCACCA	7124.21	.	AC=4,1,1,1,3;AF=0.095,0.024,0.024,0.024,0.071;AN=42;BaseQRankSum=0.814;DP=993;ExcessHet=0.2067;FS=2.348;InbreedingCoeff=0.2330;MLEAC=4,1,1,1,3;MLEAF=0.095,0.024,0.024,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=27.09;ReadPosRankSum=0.818;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0,0,0,0,0:38:75:.:.:0,75,1125,75,1125,1125,75,1125,1125,1125,75,1125,1125,1125,1125,75,1125,1125,1125,1125,1125	13	1	1	0
chr9	35906589	35906589	-	CCACCA	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.302_303insCCACCA:p.H105_P106insHH,	.	.	713	702	43	17	47	124	0.0519919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	7124.21	33	chr9	35906586	.	TCCA	T,TCCACCACCACCA,TCCACCACCA,TCCACCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA,TCCACCACCACCACCA	7124.21	.	AC=4,1,1,1,3;AF=0.095,0.024,0.024,0.024,0.071;AN=42;BaseQRankSum=0.814;DP=993;ExcessHet=0.2067;FS=2.348;InbreedingCoeff=0.2330;MLEAC=4,1,1,1,3;MLEAF=0.095,0.024,0.024,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=27.09;ReadPosRankSum=0.818;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0,0,0,0,0:38:75:.:.:0,75,1125,75,1125,1125,75,1125,1125,1125,75,1125,1125,1125,1125,75,1125,1125,1125,1125,1125	13	1	1	0
chr9	35906589	35906589	-	CCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.302_303insCCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA:p.H107_R108insHHPHHTPHHLHHHHHHPH,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	7124.21	33	chr9	35906586	.	TCCA	T,TCCACCACCACCA,TCCACCACCA,TCCACCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA,TCCACCACCACCACCA	7124.21	.	AC=4,1,1,1,3;AF=0.095,0.024,0.024,0.024,0.071;AN=42;BaseQRankSum=0.814;DP=993;ExcessHet=0.2067;FS=2.348;InbreedingCoeff=0.2330;MLEAC=4,1,1,1,3;MLEAF=0.095,0.024,0.024,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=27.09;ReadPosRankSum=0.818;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0,0,0,0,0:38:75:.:.:0,75,1125,75,1125,1125,75,1125,1125,1125,75,1125,1125,1125,1125,75,1125,1125,1125,1125,1125	13	1	1	0
chr9	35906589	35906589	-	CCACCACCACCA	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.302_303insCCACCACCACCA:p.H105_P106insHHHH,	.	.	713	702	43	17	47	124	0.0519919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	7124.21	33	chr9	35906586	.	TCCA	T,TCCACCACCACCA,TCCACCACCA,TCCACCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA,TCCACCACCACCACCA	7124.21	.	AC=4,1,1,1,3;AF=0.095,0.024,0.024,0.024,0.071;AN=42;BaseQRankSum=0.814;DP=993;ExcessHet=0.2067;FS=2.348;InbreedingCoeff=0.2330;MLEAC=4,1,1,1,3;MLEAF=0.095,0.024,0.024,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=27.09;ReadPosRankSum=0.818;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0,0,0,0,0:38:75:.:.:0,75,1125,75,1125,1125,75,1125,1125,1125,75,1125,1125,1125,1125,75,1125,1125,1125,1125,1125	13	1	1	0
chr9	35906598	35906598	-	CCACCC	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.311_312insCCACCC:p.H107_R108insPH,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0095	0.0018	0.0053	0.0034	0.0021	0	0.0008	0.0029624	458	154602	rs762598108	0.0062	0.0055	0.0063	0.0060	0.0106	0.0061	0.0060	0.0096	0.0092	0.0018	0.0046	0.0003	0.0106	0.0076	0.0030	0.0067	0.0054	0.0023	0.0085	0.0090	0.0083	0.0088	0.0303	0.0080	0.0077	0.0249	0.0229	0.0026	0	0.0088	0.0013	0.0303	0.0187	0.0114	0.0097	0.0101	0.0047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1128.38	42	chr9	35906598	.	A	ACCACCC,ACCACCACCACCACCACCC,C	1128.38	.	AC=1,1,1;AF=0.024,0.024,0.024;AN=42;BaseQRankSum=-1.116e+00;DP=676;ExcessHet=0.3300;FS=0.900;InbreedingCoeff=-0.0768;MLEAC=1,1,1;MLEAF=0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=14.47;ReadPosRankSum=-4.940e-01;SOR=0.846	GT:AD:DP:GQ:PL	0/0:14,0,0,0:14:24:0,24,360,24,360,360,24,360,360,360	18	0	1	0
chr9	35906604	35906604	-	CACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCA	exonic	HRCT1	.	frameshift insertion	HRCT1:NM_001039792:exon1:c.317_318insCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCA:p.H107Tfs*66,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.474e-06	8.085e-06	7.485e-06	9.476e-06	3.226e-05	3.99e-06	2.89e-06	2.63e-06	1.73e-06	0	3.226e-05	0	0	0	0	7.318e-06	2.214e-05	1.524e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09375	950.17	25	chr9	35906604	.	C	CCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCA,CCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCACCACCACCA,CCA	950.17	.	AC=1,1,1;AF=0.031,0.031,0.031;AN=32;BaseQRankSum=0.447;DP=622;ExcessHet=0.3672;FS=0.000;InbreedingCoeff=-0.1507;MLEAC=1,1,1;MLEAF=0.031,0.031,0.031;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=0.134;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:6,0,0,8:14:99:0|1:35906603_C_CA:298,316,477,316,477,477,0,161,161,137:35906603	13	0	1	5
chr9	35906604	35906604	-	CACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCACCACCACCA	exonic	HRCT1	.	frameshift insertion	HRCT1:NM_001039792:exon1:c.317_318insCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCACCACCACCA:p.H107Tfs*69,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0077	0.0075	0.0076	0.0077	0.0113	0.0075	0.0075	0.0085	0.0082	0.0027	0.0094	0.0095	3.371e-05	0.0028	0.0113	0.0084	0.0097	0.0029	0.0079	0.0089	0.0089	0.0068	0.0112	0.0074	0.0072	0.0104	0.0101	0.0032	0.0084	0.0083	0.0088	0	0.0008	0.0341	0.0112	0.0119	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09375	950.17	25	chr9	35906604	.	C	CCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCA,CCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCACCACCACCA,CCA	950.17	.	AC=1,1,1;AF=0.031,0.031,0.031;AN=32;BaseQRankSum=0.447;DP=622;ExcessHet=0.3672;FS=0.000;InbreedingCoeff=-0.1507;MLEAC=1,1,1;MLEAF=0.031,0.031,0.031;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=0.134;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:6,0,0,8:14:99:0|1:35906603_C_CA:298,316,477,316,477,477,0,161,161,137:35906603	13	0	1	5
chr9	35906608	35906610	CCG	-	exonic	HRCT1	.	nonframeshift deletion	HRCT1:NM_001039792:exon1:c.321_323del:p.R108del,	.	.	878	634	4	4	2	14	0.009375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0	0.0005	0.0005	0.0014	0.0040	0	0.0063	1.29e-05	2	154602	rs774393162	0.0019	0.0075	0.0017	0.0020	0.0044	0.0018	0.0018	0.0034	0.0032	0.0005	0.0006	0.0033	0.0001	0.0010	0.0044	0.0019	0.0012	0.0038	0.0018	0.0064	0.0015	0.0021	0.0138	0.0014	0.0013	0.0083	0.0067	0.0001	0.0040	0.0032	0.0023	0	0.0017	0	0.0017	0	0.0138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	185.12	25	chr9	35906607	.	ACCG	A	185.12	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.431;DP=575;ExcessHet=0.1072;FS=3.593;InbreedingCoeff=-0.0517;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=4.75;ReadPosRankSum=-1.943e+00;SOR=1.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:9,0:9:24:.:.:0,24,360	19	0	2	0
chr9	35957935	35957935	C	T	exonic	OR2S2	.	nonsynonymous SNV	OR2S2:NM_019897:exon1:c.G164A:p.R55H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.89	T	0.002	B	0.002	B	0.467	N	1.000	N	-0.425	N	7.15	T	-0.953	T	0.001	T	0.1	-1.972	0.007	-7.03	-1.694	-3.752	17.031	0.077	0.00304242500484	0.0002	.	5.768e-05	0.0006	0	0	0	1.499e-05	0	0	4.53e-05	7	154602	rs375745627	2.189e-05	2.189e-05	2.178e-05	2.2e-05	0.0005	1.584e-05	1.356e-05	0.0003	0.0002	0.0005	8.945e-05	0	0	0	0.0002	6.295e-06	4.967e-05	1.159e-05	0.0001	0.0001	0.0001	9.408e-05	0.0004	7.577e-05	6.282e-05	0.0002	0.0002	0.0004	0	6.537e-05	0	0	0	0	0	0.0005	0	1.0	0.00964	T	.	.	.	0.002	0.09854	B	0.002	0.06944	B	0.467188	0.12321	N	0.721832	0.999977	0.18612	N	-0.205	0.04094	N	7.15	0.00440	T	1.36	0.00878	N	0.038	0.01203	-0.9526	0.40520	T	0.001	0.00188	T	10	0.02461645	0.00684	T	0.003042	0.06547	T	0.077	0.22490	.	.	0.17948927462	0.17512	0.060804377690670784	0.06020	0.0718842067484	0.08051	0.180018544197	0.00094	T	0.001984	0.01394	T	-0.63536	0.00089	T	-0.796394	0.01995	T	0.0099761586933763	0.00133	T	0.221578	0.02858	T	0.03958556	0.05492	0.07237679	0.15607	0.03958556	0.05492	0.07237679	0.15606	-2.699	0.07295	T	.	.	0.073	0.04558	B	.	.	-0.627729	0.01498	0.094	0.18733910673484322	0.00602	0.00869	0.03447	N	AEFBI	0.035046	0.04446	N	-1.88050830523796	0.00376	0.01617633	-1.90546567730426	0.00478	0.02115459	0.999781581037705	0.43007	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	4.07	-7.03	0.01428	-2.721000	0.00882	-20.000000	0.00162	-0.812000	0.03057	0.000000	0.06391	0.000000	0.08366	0.375000	0.26223	0.0:0.1254:0.0:0.8746	17.031	0.86335	561	0.71236	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2066.98	136	chr9	35957935	.	C	T	2066.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.64;DP=1901;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.20;ReadPosRankSum=1.66;SOR=0.728	GT:AD:DP:GQ:PL	0/0:131,0:131:99:0,120,1800	20	0	1	0
chr9	36162372	36162372	G	A	exonic	GLIPR2	.	nonsynonymous SNV	GLIPR2:NM_001287012:exon3:c.G133A:p.G45S,	.	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0059	0.00499201	0.0017	0.0183	0.0011	0	0	0.0001	0	0	0.00163	252	154602	rs138682558	0.0006	0.0006	0.0006	0.0005	0.0160	0.0005	0.0005	0.0149	0.0144	0.0160	0.0012	0.0010	2.521e-05	0	0.0017	0.0001	0.0013	3.479e-05	0.0048	0.0048	0.0050	0.0047	0.0164	0.0045	0.0044	0.0153	0.0149	0.0164	0	0.0018	0.0009	0	0	0.0034	0.0002	0.0033	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.066	0.03841	.	.	.	.	.	.	.	0.0025483668	0.00039	T	.	.	.	.	.	.	.	0.398133443147	0.39430	.	.	.	.	.	.	.	0.002643	0.02035	T	-0.633783	0.00091	T	-0.668882	0.07680	T	.	.	.	0.384762	0.09420	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.02609	B	.	.	0.452209	0.08223	4.961	0.78105731342457518	0.12157	0.14002	0.18170	N	AEFDGBI	0.005372	0.00007	N	.	.	.	.	.	.	0.999999999999851	0.74766	0.730579	0.87903	0	0.670034	0.63936	0	0.749866	0.98131	0	0.631631	0.49550	0	.	.	5.84	-11.7	0.00035	0.129000	0.15656	-1.772000	0.04754	-0.785000	0.03297	0.908000	0.31627	0.000000	0.08366	0.942000	0.48361	0.1212:0.2587:0.3826:0.2374	3.156	0.06117	498	0.76166	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2231.98	185	chr9	36162372	.	G	A	2231.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.445;DP=886;ExcessHet=0.0000;FS=0.539;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=2.00;SOR=0.762	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1271	20	0	1	0
chr9	36169542	36169542	G	C	exonic	CCIN	.	nonsynonymous SNV	CCIN:NM_005893:exon1:c.G40C:p.V14L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.931	P	0.911	D	0.022	N	0.993	N	-0.34	N	-0.24	T	-0.903	T	0.148	T	0.333	0.675	7.612	4.8	1.429	0.783	10.878	0.204	.	0.0040	0.00379393	0.0010	0.0109	0.0003	0	0	0	0	0	0.0009056	140	154602	rs140225623	0.0003	0.0003	0.0003	0.0002	0.0097	0.0003	0.0002	0.0088	0.0085	0.0097	0.0004	0	0	0	0.0003	7.194e-06	0.0009	1.159e-05	0.0029	0.0029	0.0028	0.0029	0.0100	0.0026	0.0026	0.0092	0.0089	0.0100	0	0.0007	0	0	0	0.0034	4.41e-05	0.0024	0	0.131	0.26629	T	0.369	0.16522	T	0.931	0.51899	P	0.911	0.64720	D	0.022279	0.26667	N	0.260679	0.992924	0.23802	N	-0.08	0.04796	N	-0.24	0.66834	T	-0.07	0.08033	N	0.279	0.31590	-0.9028	0.47694	T	0.148	0.47398	T	10	0.00868246	0.00197	T	.	.	.	0.204	0.49076	0.493	0.58048	0.671947942484	0.66917	0.40876474839920673	0.40792	0.267502293353	0.29292	0.650991559029	0.60126	T	0.004311	0.03719	T	-0.431556	0.01450	T	-0.384715	0.35171	T	0.0391484797318546	0.03538	T	0.542646	0.18460	T	0.053001408	0.09966	0.07785974	0.17384	0.053001408	0.09965	0.07785974	0.17384	-2.119	0.03666	T	.	.	0.236	0.46960	B	.	.	0.508568	0.08773	5.551	0.89578623804782354	0.18918	0.48674	0.28260	N	AEFDBCI	0.132480	0.25179	N	-0.106638922286488	0.37103	2.15387	-0.0158896371365289	0.38997	2.305639	0.999999983333883	0.74766	0.614807	0.35715	0	0.59043	0.45803	0	0.602189	0.34648	0	0.645948	0.59608	0	.	.	5.69	4.8	0.61157	0.909000	0.28180	0.406000	0.18056	-2.356000	0.00307	0.865000	0.30702	0.013000	0.20296	0.791000	0.37352	0.0866:0.0:0.9134:0.0	10.878	0.46131	430	0.80826	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1339.98	34	chr9	36169542	.	G	C	1339.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.95;DP=964;ExcessHet=0.0000;FS=0.974;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.96;ReadPosRankSum=1.47;SOR=0.510	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	20	0	1	0
chr9	36170280	36170280	C	T	exonic	CCIN	.	nonsynonymous SNV	CCIN:NM_005893:exon1:c.C778T:p.R260C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.982	D	0.000	D	0.999	D	0.895	L	-0.26	T	-0.560	T	0.251	T	0.829	2.701	14.99	4.89	2.770	1.956	11.417	0.359	0.0288746508903	0.0002	0.00139776	0.0001	0.0010	8.691e-05	0.0001	0	0	0	0.0002	0.0001552	24	154602	rs140883913	7.799e-05	7.798e-05	6.943e-05	8.663e-05	0.0012	6.6e-05	6.142e-05	0.0009	0.0008	0.0012	2.237e-05	0	2.519e-05	0	0.0005	1.259e-05	0.0002	0.0005	0.0003	0.0003	0.0003	0.0003	0.0009	0.0002	0.0002	0.0006	0.0006	0.0009	0	6.533e-05	0	0	0	0	1.47e-05	0	0.0008	0.076	0.34269	T	0.0	0.92824	D	1.0	0.90584	D	0.982	0.75477	D	0.000083	0.51296	D	0.000000	0.998916	0.45677	D	1.1	0.28011	L	-0.26	0.67187	T	-2.32	0.51478	N	0.793	0.78927	-0.5602	0.66396	T	0.251	0.62027	T	10	0.15082088	0.28519	T	0.028875	0.51484	D	0.359	0.67962	.	.	0.872650995292	0.87140	0.58393826963041	0.58322	1.11663288113	0.78184	0.491950631142	0.37709	T	0.030067	0.21398	T	-0.100691	0.36311	T	-0.000443861	0.70307	D	0.051862119354925	0.05824	T	0.842416	0.51891	T	0.119131945	0.28057	0.0865529	0.20060	0.119131945	0.28057	0.0865529	0.20060	-3.901	0.22318	T	.	.	0.529	0.65881	A	.	.	4.671893	0.74675	26.2	0.99898895235422525	0.97124	0.66419	0.33072	D	AEFDBI	0.278606	0.39285	N	0.524118928747788	0.68521	5.228518	0.555555513111676	0.71786	5.708028	0.999999611448047	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.84	4.89	0.63387	2.104000	0.41440	2.614000	0.33594	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1799:0.8201:0.0:0.0	11.417	0.49200	424	0.81215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2098.98	34	chr9	36170280	.	C	T	2098.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.21;DP=1108;ExcessHet=0.0000;FS=1.280;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.18;ReadPosRankSum=-2.190e-01;SOR=0.639	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr9	36170302	36170302	G	A	exonic	CCIN	.	nonsynonymous SNV	CCIN:NM_005893:exon1:c.G800A:p.S267N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.281	B	0.075	B	0.000	D	0.561	N	0.805	L	-0.27	T	-0.677	T	0.142	T	0.079	1.487	10.92	5.97	2.839	2.955	15.924	0.134	.	0.0040	0.00379393	0.0010	0.0109	0.0003	0	0	0	0	0	0.0009056	140	154602	rs149800575	0.0003	0.0003	0.0003	0.0002	0.0097	0.0003	0.0002	0.0088	0.0085	0.0097	0.0004	0	0	0	0.0003	7.194e-06	0.0009	1.159e-05	0.0029	0.0029	0.0028	0.0029	0.0100	0.0026	0.0026	0.0092	0.0089	0.0100	0	0.0007	0	0	0	0.0034	4.41e-05	0.0024	0	0.009	0.57480	D	0.062	0.45318	T	0.281	0.32101	B	0.075	0.28327	B	0.000088	0.51296	D	0.084363	0.561291	0.31254	N	0.975	0.24501	L	-0.27	0.67367	T	-0.27	0.11366	N	0.239	0.26957	-0.6771	0.61506	T	0.142	0.46349	T	10	0.005872369	0.00131	T	.	.	.	0.134	0.36365	.	.	0.824004834288	0.82233	0.687361272320196	0.68676	0.624608782655	0.56662	0.426729440689	0.28762	T	0.009098	0.08305	T	-0.503754	0.00545	T	-0.488422	0.23556	T	0.0201781184281316	0.00718	T	0.643236	0.25495	T	0.16197604	0.36243	0.19084641	0.42511	0.16197604	0.36243	0.19084641	0.42510	-3.802	0.20834	T	.	.	0.123	0.25721	B	.	.	2.450581	0.31553	18.78	0.98434152206036674	0.41431	0.83647	0.42750	D	AEFDBI	0.414687	0.48385	N	0.118375504636549	0.47320	2.959393	0.306929998991567	0.55947	3.757498	0.999999999692375	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.97	5.97	0.96935	2.406000	0.44210	8.540000	0.77489	0.676000	0.76740	0.679000	0.28429	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	15.924	0.79390	424	0.81215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2235.98	34	chr9	36170302	.	G	A	2235.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.550e+00;DP=1069;ExcessHet=0.0000;FS=2.630;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=-1.423e+00;SOR=0.549	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr9	36217426	36217426	T	C	exonic	GNE	.	nonsynonymous SNV	GNE:NM_001190384:exon10:c.A1778G:p.D593G	Nonaka myopathy, Autosomal recessive;Sialuria, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.873	P	0.461	P	0.000	D	1.000	D	2.18	M	-4.94	D	1.074	D	0.972	D	0.484	4.040	20.7	5.67	2.165	7.649	13.856	0.715	0.795000559655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.018	0.65728	D	0.682	0.47975	P	0.202	0.46460	B	0.000000	0.84330	D	0.089477	1	0.81001	D	1.59	0.40313	L	-4.94	0.99694	D	-1.05	0.37566	N	0.324	0.36674	1.074	0.98710	D	0.972	0.99132	D	10	0.79060614	0.78627	D	0.795001	0.98393	D	0.715	0.89877	0.672	0.81002	0.989804873231	0.98969	0.9140961493075387	0.91384	1.14632707793	0.79085	0.396394729614	0.24567	T	0.846887	0.96479	D	0.234855	0.77176	D	0.0995763	0.76879	D	0.847838606738069	0.49980	D	0.968903	0.88767	D	0.8738637	0.89170	0.56811047	0.74997	0.8738637	0.89171	0.56811047	0.74997	-7.935	0.61350	D	0.11223124384236334	0.09687	0.772	0.75997	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.384087	0.67603	25.1	0.99665961886020704	0.78266	0.98675	0.85440	D	AEFDGBIJ	0.927908	0.91129	D	0.453308551935474	0.64391	4.692547	0.534487875788925	0.70325	5.488713	0.999999999957322	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.67	5.67	0.87673	7.626000	0.82344	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	13.856	0.63027	422	0.81333	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3150.98	39	chr9	36217426	.	T	C	3150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.048;DP=949;ExcessHet=0.0000;FS=0.966;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=0.105;SOR=0.614	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1207	20	0	1	0
chr9	36651765	36651765	C	T	exonic	MELK	.	nonsynonymous SNV	MELK:NM_001256692:exon9:c.C548T:p.T183M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	1.0	D	0.994	D	0.000	D	1.000	D	2.365	M	0.71	T	-0.127	T	0.475	T	0.628	3.965	20.3	5.63	2.652	4.189	15.210	0.337	0.182864735371	0.0002	0.00119808	0.0002	0.0013	0.0003	0	0	0	0	0.0001	0.0001682	26	154602	rs116620621	5.268e-05	5.336e-05	5.855e-05	4.676e-05	0.0011	4.278e-05	3.953e-05	0.0008	0.0007	0.0011	0.0002	0	5.04e-05	0	0.0003	4.497e-06	0.0002	0.0001	0.0002	0.0002	0.0002	0.0002	0.0008	0.0002	0.0001	0.0006	0.0005	0.0008	0	0	0	0	0	0	1.47e-05	0	0.0002	0.001	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.987	0.77487	D	0.000001	0.84330	D	0.094756	0.999997	0.58761	D	2.395	0.69210	M	-0.54	0.73311	T	-4.86	0.82764	D	0.378	0.53532	-0.1272	0.79467	T	0.475	0.79878	T	10	0.04056096	0.02635	T	0.182865	0.85648	D	0.337	0.65913	.	.	0.898391810709	0.89738	0.8075592540759439	0.80710	0.529431988237	0.50504	0.510518908501	0.40295	T	0.208901	0.56896	T	-0.138051	0.30202	T	-0.0477819	0.67174	D	0.384167611598969	0.28343	T	0.956971	0.94463	D	0.74283653	0.80455	0.5196286	0.72246	0.74283653	0.80456	0.5196286	0.72246	-11.481	0.84626	D	.	.	0.274	0.64658	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.454674	0.91095	32	0.99899297861447411	0.97124	0.89338	0.49742	D	AEFBI	0.613528	0.60119	D	0.706329668497237	0.80049	7.208581	0.692836303971977	0.81834	7.620438	0.999693737887744	0.41870	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.63	5.63	0.86108	4.299000	0.58870	7.667000	0.64568	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	15.210	0.72897	548	0.72362	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1072.98	33	chr9	36651765	.	C	T	1072.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.784;DP=812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.33;ReadPosRankSum=0.718;SOR=0.747	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1174	20	0	1	0
chr9	36966691	36966691	G	A	exonic	PAX5	.	nonsynonymous SNV	PAX5:NM_001280551:exon5:c.C314T:p.S105L	.	.	415	1105	2	0	0	2	0.000904159	.	.	138740	Leukemia,_acute_lymphoblastic,_susceptibility_to,_3|not_specified|not_provided	MONDO:MONDO:0014241,MedGen:C3809874,OMIM:615545|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.997	D	0.974	D	0.004	N	1.000	D	2.37	M	1.3	T	1.103	D	0.955	D	0.672	2.901	15.66	5.51	2.568	5.616	19.428	0.605	0.292988438015	0.0009	.	0.0007	0.0003	0.0003	0	0	0.0010	0.0011	0.0002	0.0006598	102	154602	rs137870876	0.0010	0.0010	0.0011	0.0010	0.0013	0.0010	0.0010	0.0012	0.0012	0.0002	0.0003	0	0	9.362e-05	0.0002	0.0013	0.0008	0.0003	0.0006	0.0006	0.0008	0.0004	0.0011	0.0005	0.0005	0.0009	0.0009	0.0001	0.0033	0.0001	0	0	0	0	0.0011	0.0005	0.0004	0.006	0.78490	D	0.049	0.79402	D	0.458	0.45525	P	0.017	0.37636	B	0.004009	0.34221	N	0.289697	0.999765	0.53665	D	2.215	0.62545	M	-4.26	0.98096	D	-4.13	0.83422	D	0.425	0.48319	1.103	0.99785	D	0.955	0.98531	D	10	0.25095463	0.42428	T	0.292988	0.90627	D	0.605	0.84452	.	.	0.910647563361	0.90974	0.5859175941848557	0.58521	0.907193985159	0.70892	0.731673717499	0.71751	T	0.53234	0.83839	D	0.0277112	0.55417	T	0.216588	0.84002	D	0.0788527879035309	0.09839	T	0.968203	0.88631	D	0.28643358	0.51659	0.25361952	0.51013	0.25854483	0.48904	0.27562985	0.53499	-12.155	0.85967	D	.	.	0.102	0.40473	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	5.133881	0.85920	28.7	0.99858115849424778	0.93639	0.89486	0.49981	D	AEFDBHCI	0.692559	0.65218	D	0.44761216933599	0.64068	4.653191	0.505466564131464	0.68358	5.208961	0.999999669254193	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.51	5.51	0.81769	5.661000	0.67694	11.905000	0.99459	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.343000	0.25501	0.0:0.0:1.0:0.0	19.428	0.94743	850	0.35610	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1006.98	37	chr9	36966691	.	G	A	1006.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.15;DP=789;ExcessHet=0.0000;FS=0.863;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=-5.490e-01;SOR=0.844	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1199	20	0	1	0
chr9	37126591	37126591	G	A	exonic	ZCCHC7	.	nonsynonymous SNV	ZCCHC7:NM_001289119:exon2:c.G259A:p.D87N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.999	D	0.002	N	1.000	D	1.905	M	1.26	T	-0.514	T	0.270	T	0.082	4.421	23.5	5.64	2.810	5.035	20.055	0.226	0.0389775096761	0.0015	0.00259585	0.0005	0.0056	0.0002	0	0	0	0	0	0.0004722	73	154602	rs149464303	0.0001	0.0001	0.0001	0.0001	0.0047	0.0001	0.0001	0.0041	0.0039	0.0047	0	0	0	0	0.0005	1.799e-06	0.0003	3.478e-05	0.0013	0.0013	0.0014	0.0012	0.0046	0.0012	0.0011	0.0040	0.0038	0.0046	0	0.0006	0	0	0	0	4.41e-05	0.0009	0	0.019	0.50676	D	0.033	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.001908	0.37691	N	0.258323	0.999457	0.81001	D	2.485	0.72352	M	1.26	0.54347	T	-0.92	0.77717	N	0.326	0.38950	-0.5143	0.68128	T	0.270	0.64172	T	10	0.0073604584	0.00167	T	0.038978	0.58541	D	0.226	0.52472	.	.	0.21737058555	0.21362	0.13556355052852817	0.13480	0.515395677199	0.49451	0.582183122635	0.50393	T	0.039	0.50055	T	-0.479402	0.00745	T	-0.460313	0.26565	T	0.0527248391443438	0.05972	T	0.812919	0.46506	T	0.06624675	0.14235	0.07696063	0.17097	0.06624675	0.14235	0.07696063	0.17097	-6.127	0.47330	T	.	.	0.122	0.31100	B	.;.;.	.;.;.	4.740991	0.76452	26.5	0.99926317544387122	0.99103	0.92959	0.56970	D	AEFGBHCI	0.438724	0.49800	N	0.741697621795312	0.82361	7.744074	0.73022081637721	0.84672	8.357968	0.999999999999799	0.74766	0.706548	0.73137	0	0.685571	0.66316	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.64	5.64	0.86480	5.190000	0.64944	11.838000	0.97738	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.0:1.0:0.0	20.055	0.97648	487	0.76954	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2085.98	34	chr9	37126591	.	G	A	2085.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.916e+00;DP=821;ExcessHet=0.0000;FS=0.636;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.23;ReadPosRankSum=1.32;SOR=0.602	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1288	20	0	1	0
chr9	37422766	37422766	C	T	exonic	GRHPR	.	nonsynonymous SNV	GRHPR:NM_012203:exon1:c.C16T:p.L6F,	Hyperoxaluria, primary, type II, Autosomal recessive	.	6	1467	47	2	0	51	0.0170854	.	.	319209	GRHPR-related_disorder|not_provided|Primary_hyperoxaluria,_type_II	.|MedGen:C3661900|MONDO:MONDO:0009824,MedGen:C0268165,OMIM:260000,Orphanet:416,Orphanet:93599	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.289	B	0.216	B	0.251	N	0.807	D	1.245	L	-1.61	D	0.206	D	0.586	D	0.36	3.359	17.32	3.99	1.422	1.025	14.397	0.297	.	0.0012	0.00339457	0.0073	0	0.0040	0	0	0.0035	0.0032	0.0227	0.0026778	414	154602	rs147185003	0.0022	0.0023	0.0017	0.0027	0.0178	0.0022	0.0021	0.0171	0.0168	0.0002	0.0011	0.0062	5.206e-05	5.904e-05	0.0138	0.0011	0.0032	0.0178	0.0013	0.0013	0.0010	0.0016	0.0139	0.0012	0.0011	0.0112	0.0102	0.0001	0	0.0008	0.0075	0	9.416e-05	0.0034	0.0012	0.0024	0.0139	0.036	0.43393	D	0.066	0.44501	T	0.289	0.32288	B	0.216	0.37572	B	0.250520	0.15520	N	0.629307	0.807311	0.34592	D	2.87	0.83286	M	-2.46	0.88924	D	-1.54	0.37375	N	0.259	0.29313	0.206	0.86016	D	0.586	0.85131	D	10	0.0075918436	0.00173	T	.	.	.	0.297	0.61730	.	.	0.848972102546	0.84752	0.32708136172285335	0.32621	0.623661094439	0.56596	0.730651676655	0.71601	T	0.041163	0.25768	T	-0.259537	0.12954	T	-0.131303	0.60861	T	0.0973177600853822	0.12059	T	0.740126	0.35895	T	0.27287814	0.50357	0.19476983	0.43118	0.20975137	0.43252	0.15762869	0.36847	-5.73	0.43959	T	.	.	0.121	0.25034	B	.;.	.;.	2.962198	0.39448	21.0	0.99746080339010335	0.83852	0.92818	0.56620	D	ALL	0.729427	0.67714	D	-0.441273332406594	0.24037	1.295078	-0.374071940007045	0.25773	1.41939	0.999999999999998	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.9	3.99	0.45527	1.278000	0.32784	-0.042000	0.12656	-0.214000	0.08267	0.971000	0.34370	0.001000	0.17328	0.341000	0.25455	0.0:0.8509:0.1491:0.0	14.397	0.66586	711	0.56613	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	724.98	78	chr9	37422766	.	C	T	724.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.530e-01;DP=767;ExcessHet=0.0000;FS=1.880;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.29;ReadPosRankSum=-5.560e-01;SOR=0.968	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1145	20	0	1	0
chr9	37489336	37489336	C	G	exonic	POLR1E	.	nonsynonymous SNV	POLR1E:NM_022490:exon4:c.C279G:p.N93K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.988	D	0.832	P	0.000	D	1.000	D	2.095	M	1.62	T	-0.973	T	0.123	T	0.425	2.964	15.88	0.218	0.119	-0.050	10.641	0.185	0.013337967469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.63226	D	0.008	0.67890	D	.	.	.	.	.	.	0.000000	0.84330	D	0.090274	0.75164	0.81001	D	2.62	0.76659	M	1.62	0.28189	T	-3.75	0.71157	D	0.65	0.68255	-0.9726	0.36648	T	0.123	0.42652	T	10	0.8444456	0.83607	D	0.013338	0.32667	T	0.185	0.45933	0.812	0.92788	0.40146981186	0.39757	0.6423543505851437	0.64170	0.384708731815	0.39768	0.75103533268	0.74599	T	.	.	.	-0.0998291	0.36453	T	-0.381174	0.35583	T	0.989948987960815	0.80162	D	0.725927	0.34027	T	0.48704213	0.66326	0.3882944	0.63676	0.48704213	0.66327	0.3882944	0.63676	-7.1	0.54760	T	.	.	0.720	0.75136	P	.;.	.;.	2.095361	0.26658	17.19	0.99448054155431087	0.65122	0.85173	0.44283	D	AEFBI	0.243116	0.36445	N	0.108449812454741	0.46857	2.919724	0.0473112038025857	0.41941	2.528377	0.999618210597924	0.40981	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.27	0.218	0.14546	0.137000	0.15816	-0.141000	0.11517	0.596000	0.33519	0.977000	0.34929	0.531000	0.25362	0.999000	0.91618	0.0:0.6476:0.0:0.3524	10.641	0.44784	592	0.68746	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1126.98	47	chr9	37489336	.	C	G	1126.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.511;DP=1050;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.83;ReadPosRankSum=1.48;SOR=0.722	GT:AD:DP:GQ:PL	0/0:85,0:85:99:0,120,1800	20	0	1	0
chr9	37740804	37740804	C	T	exonic	FRMPD1	.	nonsynonymous SNV	FRMPD1:NM_001371223:exon15:c.C2276T:p.P759L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.79	P	0.36	B	0.069	N	0.947	N	1.955	M	2.57	T	-1.048	T	0.069	T	0.094	2.352	13.82	3.56	0.601	2.587	9.340	0.077	0.0154358754295	.	0.000199681	2.483e-05	0	0	0	0	4.521e-05	0	0	2.59e-05	4	154602	rs546200227	9.577e-06	9.577e-06	8.167e-06	1.1e-05	2.236e-05	5.56e-06	4.35e-06	4.55e-06	3.32e-06	0	2.236e-05	0	0	1.872e-05	0	8.993e-06	3.311e-05	0	2.626e-05	2.625e-05	2.57e-05	2.685e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.001	0.78490	D	0.004	0.74150	D	0.79	0.44599	P	0.36	0.43183	B	0.068893	0.21642	N	0.517317	0.946895	0.26617	N	2.38	0.68558	M	2.57	0.13552	T	-4.98	0.82141	D	0.16	0.17140	-1.0475	0.15102	T	0.069	0.28180	T	10	0.13054946	0.24845	T	0.015436	0.36172	T	0.077	0.22490	0.289	0.24921	0.409124616982	0.40530	0.4859161840309267	0.48511	0.165591226774	0.18678	0.3413875103	0.16645	T	0.167427	0.51406	T	-0.337391	0.05570	T	-0.614758	0.11603	T	0.824055075645447	0.48075	D	0.653935	0.26417	T	0.09453393	0.22229	0.17796858	0.40434	0.09453393	0.22228	0.17796858	0.40433	-4.795	0.34533	T	.	.	0.074	0.04932	B	.;.	.;.	2.194821	0.27984	17.65	0.9917480210234777	0.54498	0.14155	0.18252	N	AEFDGBI	0.165615	0.29213	N	-0.158283001528843	0.34884	1.996797	-0.248487340959466	0.29823	1.674064	0.999980030572841	0.51787	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.46	3.56	0.39892	3.517000	0.53201	0.809000	0.21733	0.599000	0.40250	0.097000	0.22731	0.000000	0.08366	0.616000	0.31793	0.0:0.8165:0.0:0.1835	9.340	0.37233	679	0.60090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	903.98	39	chr9	37740804	.	C	T	903.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.813e+00;DP=832;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.86;ReadPosRankSum=1.93;SOR=0.665	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,117,1339	20	0	1	0
chr9	37782130	37782130	T	C	exonic	EXOSC3	.	nonsynonymous SNV	EXOSC3:NM_016042:exon3:c.A482G:p.D161G,	Pontocerebellar hypoplasia, type 1B, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	1666690	Pontocerebellar_hypoplasia_type_1B	MONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678,Orphanet:2254	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	0	D	1.0	D	0.975	D	0.000	D	1.000	D	3.11	M	-2.1	D	0.825	D	0.812	D	0.981	4.623	25.3	5.49	2.207	8.029	13.836	0.917	0.222076511813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.016	0.60972	D	1.0	0.90584	D	0.975	0.73362	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.135	0.88152	M	-2.1	0.86146	D	-5.7	0.87380	D	0.971	0.98167	0.825	0.94719	D	0.812	0.93676	D	10	0.91090506	0.90455	D	0.222077	0.87837	D	0.917	0.97852	0.694	0.83126	0.924815045053	0.92404	0.820757248253165	0.82032	0.683597874997	0.60172	0.748694419861	0.74254	T	0.378836	0.74172	T	0.443885	0.92201	D	0.399834	0.92104	D	0.997352804602829	0.91359	D	0.90021	0.65300	D	0.8783517	0.89531	0.784656	0.87314	0.8783517	0.89533	0.784656	0.87315	-11.763	0.83677	D	0.9629505689674748	0.98791	0.992	0.94308	P	.	.	5.467460	0.91233	32	0.99851946131486902	0.93102	0.99729	0.99021	D	AEFBI	0.927382	0.90994	D	0.903394704860887	0.91925	11.13809	0.847956997502576	0.92895	11.69804	0.999999999993161	0.74766	0.67177	0.52595	0	0.662677	0.63036	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.49	5.49	0.81022	8.007000	0.88101	7.838000	0.70402	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	13.836	0.62903	568	0.70638	Rrp40, S1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	160.03	41	chr9	37782130	.	T	C	160.03	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.332e+00;DP=1172;ExcessHet=0.0000;FS=82.129;InbreedingCoeff=-0.0278;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.63;ReadPosRankSum=2.26;SOR=8.485	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr9	37857334	37857334	G	C	exonic	DCAF10	.	nonsynonymous SNV	DCAF10:NM_001286810:exon5:c.G629C:p.R210P	.	.	.	.	.	.	.	.	.	.	.	2221173	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.24	T	0.998	D	0.992	D	0.000	D	1.000	D	0.55	N	-0.48	T	-0.422	T	0.377	T	0.696	3.078	16.28	6.08	2.894	4.936	18.157	0.301	0.0291163469163	.	0.000199681	0.0004	0.0003	0.0003	0	0.0002	0.0005	0	0.0001	0.0003881	60	154602	rs201789974	0.0006	0.0006	0.0006	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0002	0.0003	3.873e-05	0	0	0.0003	0.0008	0.0004	0.0002	0.0004	0.0004	0.0003	0.0004	0.0005	0.0003	0.0003	0.0004	0.0004	0.0001	0	0.0005	0	0	9.425e-05	0	0.0005	0.0024	0.0002	0.027	0.46513	D	0.178	0.29639	T	0.998	0.73220	D	0.992	0.80445	D	0.000106	0.50451	D	0.130406	0.999857	0.81001	D	1.355	0.33814	L	-0.48	0.70249	T	-0.23	0.10656	N	0.7	0.75192	-0.4216	0.71340	T	0.377	0.73438	T	10	0.3081535	0.48313	T	0.029116	0.51684	D	0.301	0.62179	.	.	0.305926609036	0.30200	0.6192333070205588	0.61856	1.51714929334	0.87364	0.563840389252	0.47809	T	0.019191	0.15335	T	-0.133422	0.30942	T	-0.0618349	0.66205	T	0.0369789269023827	0.03153	T	0.892511	0.62902	D	0.3154206	0.54251	0.39886782	0.64465	0.3154206	0.54251	0.39886782	0.64465	-2.66	0.06973	T	.	.	0.195	0.41602	B	.;.	.;.	5.030901	0.83670	28.1	0.99067828217782794	0.51645	0.97139	0.72918	D	AEFBI	0.859844	0.77759	D	0.601498158348991	0.73271	5.938697	0.670223826169196	0.80122	7.229713	0.999999715123337	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	6.08	6.08	0.98982	5.034000	0.63942	11.830000	0.97496	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.157	0.89628	562	0.71143	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	918.98	34	chr9	37857334	.	G	C	918.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.616e+00;DP=759;ExcessHet=0.0000;FS=1.059;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.58;ReadPosRankSum=-6.970e-01;SOR=0.496	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1171	20	0	1	0
chr9	38068210	38068210	C	T	exonic	SHB	.	nonsynonymous SNV	SHB:NM_003028:exon1:c.G436A:p.A146T,	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.602	P	0.108	B	0.010	N	0.591	N	-0.345	N	0.8	T	-1.089	T	0.009	T	0.297	3.124	16.44	4.33	2.132	1.593	8.605	0.094	.	0.0010	0.0119808	0.0221	0	0.2604	0.0396	0.0172	0.0067	0	0.0016	0.0059443	919	154602	rs78289037	0.0015	0.0029	0.0017	0.0014	0.0898	0.0015	0.0015	0.0852	0.0834	0.0008	0.0898	5.723e-05	0.0140	0.0023	0.0003	0.0002	0.0029	0.0007	0.0066	0.0066	0.0059	0.0074	0.0527	0.0063	0.0062	0.0497	0.0485	0.0015	0	0.0527	0	0.0146	0.0016	0	0.0004	0.0104	0.0002	0.262	0.16466	T	0.597	0.08025	T	0.602	0.39365	P	0.108	0.31289	B	0.010275	0.29994	N	0.145679	0.590744	0.31022	N	-0.345	0.03330	N	0.8	0.48769	T	-0.41	0.14000	N	0.312	0.35194	-1.0893	0.05650	T	0.009	0.03140	T	10	0.0015110373	0.00017	T	.	.	.	0.094	0.27141	.	.	.	.	0.2964938560667452	0.29562	0.274717075543	0.29960	0.846139371395	0.89030	D	0.099542	0.40446	T	-0.587385	0.00174	T	-0.472694	0.25225	T	0.026187886073335	0.01432	T	0.543646	0.18539	T	0.10496869	0.24816	0.08856218	0.20656	0.10496869	0.24816	0.08856218	0.20655	-5.432	0.41226	T	.	.	0.086	0.10642	B	.	.	2.284466	0.29215	18.05	0.99554262941209659	0.71335	0.63984	0.32261	D	AEFDBHCI	0.232005	0.35515	N	-0.224509546081326	0.32131	1.808769	-0.0872916278380964	0.35914	2.083562	0.999999997311718	0.74766	0.652421	0.48094	0	0.748881	0.99253	0	0.64067	0.45733	0	0.492483	0.08430	1	.	.	4.33	4.33	0.51083	2.165000	0.42023	2.049000	0.30337	0.498000	0.22619	0.956000	0.33378	0.966000	0.29516	0.576000	0.30797	0.0:0.8927:0.0:0.1073	8.605	0.32933	737	0.53483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	613.98	37	chr9	38068210	.	C	T	613.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.290e-01;DP=683;ExcessHet=0.0000;FS=2.955;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.16;ReadPosRankSum=1.63;SOR=0.473	GT:AD:DP:GQ:PL	0/0:23,0:23:63:0,63,716	20	0	1	0
chr9	38396506	38396506	T	C	exonic	ALDH1B1	.	nonsynonymous SNV	ALDH1B1:NM_000692:exon2:c.T758C:p.V253A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.0	B	0.001	B	0.000	D	1.000	N	-1.355	N	2.5	T	-0.943	T	0.009	T	0.152	-1.246	0.053	3.13	0.373	2.106	5.818	0.095	0.00469874300915	.	.	8.314e-06	0	8.666e-05	0	0	0	0	0	6.5e-06	1	154602	rs764552270	1.368e-06	1.368e-06	2.723e-06	0	2.987e-05	2.3e-07	9e-08	.	.	2.987e-05	2.236e-05	0	0	0	0	0	0	0	6.572e-06	6.567e-06	1.285e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.852	0.02725	T	0.961	0.02542	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999999	0.08975	N	.	.	.	2.5	0.14408	T	-0.74	0.20791	N	0.238	0.26837	-0.9434	0.42073	T	0.009	0.03096	T	10	0.087919444	0.15088	T	0.004699	0.11691	T	0.095	0.27398	0.478	0.55663	0.148003135375	0.14442	0.1719588522591919	0.17115	0.115497255454	0.13025	0.430989146233	0.29343	T	.	.	.	-0.418884	0.01739	T	-0.663628	0.08024	T	0.0172571482473313	0.00467	T	0.774123	0.40598	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07745	B	.	.	1.861376	0.23646	16.10	0.43773894224388887	0.03319	0.80068	0.39807	D	AEFBCI	0.213830	0.33936	N	-0.814883018110207	0.12930	0.6335252	-0.606513775271408	0.19325	1.036338	0.999926099542748	0.46280	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.51	3.13	0.35090	2.285000	0.43149	0.149000	0.15269	0.665000	0.62972	1.000000	0.71638	0.666000	0.26041	0.140000	0.19946	0.1486:0.0819:0.0:0.7695	5.818	0.17768	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1809.98	38	chr9	38396506	.	T	C	1809.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.132;DP=1004;ExcessHet=0.0000;FS=0.647;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.71;ReadPosRankSum=0.954;SOR=0.810	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485	20	0	1	0
chr9	38396909	38396909	C	-	exonic	ALDH1B1	.	frameshift deletion	ALDH1B1:NM_000692:exon2:c.1161delC:p.G388Efs*23,	.	.	343	1147	31	1	0	33	0.0141813	.	.	211394	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0069	0.00439297	0.0048	0.0053	0.0054	0.0001	0.0006	0.0063	0.0110	0.0022	0.00011	17	154602	rs201408956	0.0052	0.0052	0.0052	0.0052	0.0135	0.0051	0.0050	0.0111	0.0102	0.0049	0.0059	0.0143	5.038e-05	0.0010	0.0135	0.0054	0.0065	0.0026	0.0050	0.0050	0.0054	0.0046	0.0066	0.0047	0.0046	0.0056	0.0052	0.0057	0	0.0066	0.0115	0	0.0002	0.0170	0.0050	0.0099	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2289.94	38	chr9	38396908	.	GC	G	2289.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.794;DP=948;ExcessHet=0.0000;FS=4.872;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.68;ReadPosRankSum=-7.500e-01;SOR=0.866	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr9	38578025	38578025	-	C	exonic	ANKRD18A	.	frameshift insertion	ANKRD18A:NM_147195:exon13:c.2370_2371insG:p.L791Afs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0003	0	0	0	0	0.0006	0	0	7.12e-05	11	154602	rs781032519	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	3.162e-05	0	0.0009	0	0	0	0.0002	0.0002	0	0.0001	0.0001	0.0001	0.0001	0.0003	9.759e-05	8.271e-05	0.0002	0.0001	7.252e-05	0	0	0.0003	0	0	0	0.0003	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1853.94	33	chr9	38578025	.	G	GC	1853.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=787;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.61;MQRankSum=-6.920e-01;QD=19.72;ReadPosRankSum=0.895;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1225	20	0	1	0
chr9	38578030	38578030	T	C	exonic	ANKRD18A	.	nonsynonymous SNV	ANKRD18A:NM_147195:exon13:c.A2366G:p.E789G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.998	D	0.979	D	.	.	1.000	D	1.65	L	1.21	T	-0.987	T	0.132	T	0.208	-0.152	3.258	1.53	0.956	0.831	5.203	0.114	0.0045813913296	.	.	0.0003	0	0	0	0	0.0006	0	0	5.17e-05	8	154602	rs764453639	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	3.163e-05	0	0.0009	0	0	0	0.0002	0.0002	0	0.0001	0.0001	0.0001	0.0001	0.0002	9.743e-05	8.257e-05	0.0002	0.0001	7.236e-05	0	0	0.0003	0	0	0	0.0002	0	0.0002	0.147	0.24955	T	0.011	0.79402	D	0.998	0.73220	D	0.979	0.74454	D	.	.	.	.	0.998403	0.22175	N	2.315	0.66250	M	1.21	0.37230	T	-3.59	0.69236	D	0.176	0.18920	-0.9869	0.33371	T	0.132	0.44366	T	9	0.0760555	0.11833	T	0.004581	0.11315	T	0.114	0.32008	.	.	0.181679512989	0.17746	0.04432178522843378	0.04376	0.0317747987355	0.03293	0.541878342628	0.44711	T	0.015111	0.12739	T	-0.185182	0.22969	T	-0.503778	0.21955	T	0.185119517160925	0.19552	T	0.522748	0.20104	T	0.16046144	0.35988	0.18585266	0.41722	0.16046144	0.35988	0.18585266	0.41722	-6.073	0.46886	T	.	.	0.085	0.15160	B	.;.	.;.	2.095139	0.26658	17.19	0.97709840543954951	0.35489	0.32982	0.24718	N	AEFI	0.058038	0.10858	N	-0.00316664198551648	0.41712	2.499927	-0.181680895152837	0.32209	1.830282	3.34028625401159E-5	0.03775	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.53	1.53	0.22224	1.381000	0.33969	0.089000	0.14491	0.312000	0.19173	1.000000	0.71638	0.000000	0.08366	0.071000	0.16709	0.0:0.0:0.0:1.0	5.203	0.14601	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1889.98	33	chr9	38578030	.	T	C	1889.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.910e-01;DP=786;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.59;MQRankSum=-6.140e-01;QD=20.11;ReadPosRankSum=0.208;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1225	20	0	1	0
chr9	39073964	39073964	-	T	exonic	CNTNAP3	.	frameshift insertion	CNTNAP3:NM_033655:exon24:c.3792dupA:p.A1265Sfs*15,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	134.94	34	chr9	39073964	.	C	CT	134.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.257e+00;DP=1073;ExcessHet=0.0000;FS=3.685;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=40.94;MQRankSum=-1.697e+00;QD=0.45;ReadPosRankSum=1.72;SOR=0.677	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr9	39149856	39149856	C	-	exonic	CNTNAP3	.	frameshift deletion	CNTNAP3:NM_033655:exon10:c.1599delG:p.L534Wfs*9,	.	.	485	1006	31	0	0	31	0.0151738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0045	.	.	.	.	.	.	.	.	.	.	.	.	rs1453339510	0.0004	0.0051	0.0003	0.0004	0.0009	0.0003	0.0003	0.0006	0.0006	0.0001	0.0009	0.0004	0	0.0001	0.0002	0.0004	0.0004	0.0001	0.0003	0.0022	0.0002	0.0003	0.0005	0.0002	0.0002	0.0002	0.0002	0.0002	0.0011	0.0005	0	0	0.0002	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	159.07	14	chr9	39149855	.	GC	G	159.07	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-8.540e-01;DP=226;ExcessHet=0.1128;FS=2.515;InbreedingCoeff=-0.0613;MLEAC=2;MLEAF=0.050;MQ=32.76;MQRankSum=-1.981e+00;QD=10.60;ReadPosRankSum=-9.920e-01;SOR=0.180	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:8,0:8:24:.:.:0,24,258	18	0	2	1
chr9	39149858	39149858	C	A	exonic	CNTNAP3	.	nonsynonymous SNV	CNTNAP3:NM_033655:exon10:c.G1597T:p.A533S,	.	.	485	1003	34	0	0	34	0.0166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.01	B	0.008	B	.	.	1.000	N	0.345	N	-1.03	T	-0.982	T	0.172	T	0.282	-1.370	0.026	-0.119	0.110	-0.964	3.478	0.162	0.0108717051771	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1484419033	0.0004	0.0052	0.0003	0.0004	0.0008	0.0003	0.0003	0.0006	0.0005	0.0002	0.0008	0.0005	0	9.564e-05	0	0.0004	0.0004	8.299e-05	0.0002	0.0022	0.0002	0.0003	0.0003	0.0002	0.0001	0.0002	0.0001	0.0002	0.0011	0.0003	0	0	0.0002	0	0.0003	0	0	1.0	0.02161	T	0.774	0.04619	T	0.001	0.15535	B	0.002	0.13708	B	.	.	.	.	1	0.08975	N	0.59	0.15444	N	-1.03	0.76430	T	0.2	0.06138	N	0.062	0.06322	-0.9820	0.34538	T	0.172	0.51341	T	9	0.052612126	0.05321	T	0.010872	0.27894	T	0.162	0.41843	.	.	0.433600339574	0.42977	0.3437098445241947	0.34284	.	.	0.677286505699	0.63879	T	3.38E-4	0.00092	T	-0.132436	0.31102	T	-0.428011	0.30161	T	0.015555230591159	0.00353	T	0.561544	0.19673	T	0.03978719	0.05560	0.041134737	0.04607	0.03978719	0.05559	0.041134737	0.04607	-5.51	0.41961	T	.	.	0.068	0.05404	B	.;.;.;.	.;.;.;.	-0.079541	0.03764	0.786	0.91750366764953561	0.21049	0.04865	0.10603	N	AEFCI	0.055787	0.10258	N	-1.06548804724725	0.07287	0.3380553	-1.03089460491369	0.09110	0.4514132	7.75493372009555E-5	0.04552	0.615465	0.37627	0	0.588015	0.36545	0	0.685742	0.62368	0	0.655142	0.61905	0	.	.	2.95	-0.119	0.12883	-1.304000	0.02849	-15.477000	0.00355	-0.361000	0.05505	0.000000	0.06391	0.000000	0.08366	0.758000	0.36073	0.1852:0.4881:0.0:0.3267	3.478	0.07157	988	0.01987	Laminin G domain;Laminin G domain;Laminin G domain;Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05	159.13	14	chr9	39149858	.	C	A	159.13	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-1.068e+00;DP=237;ExcessHet=0.1128;FS=2.515;InbreedingCoeff=-0.0618;MLEAC=2;MLEAF=0.050;MQ=34.38;MQRankSum=-1.981e+00;QD=10.61;ReadPosRankSum=-9.920e-01;SOR=0.180	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:8,0:8:24:.:.:0,24,258	18	0	2	1
chr9	39358847	39358847	A	T	exonic	SPATA31A1	.	nonsynonymous SNV	SPATA31A1:NM_001085452:exon4:c.A1082T:p.N361I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.952	D	0.842	N	1.000	N	2.05	M	3.33	T	-1.048	T	0.046	T	0.402	1.737	11.77	1.78	1.081	0.015	5.660	0.047	0.00131501896992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	0.842315	0.07007	N	1.079530	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.371	0.41261	-1.0482	0.14903	T	0.046	0.19800	T	10	0.19625503	0.35509	T	0.001315	0.01834	T	0.047	0.12962	.	.	0.0762999501168	0.06990	.	.	.	.	.	.	.	.	.	.	-0.0817683	0.39428	T	-0.355231	0.38605	T	0.748608946800232	0.43208	D	0.544846	0.18617	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.978443	0.25134	16.65	0.98133473361449575	0.38539	0.01577	0.05141	N	AEI	0.035785	0.04663	N	-0.287851751138284	0.29616	1.643986	-0.575839017917892	0.20124	1.083	3.64069619174944E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.78	1.78	0.23918	0.069000	0.14419	-0.601000	0.08270	-0.158000	0.11653	0.001000	0.13787	0.000000	0.08366	0.007000	0.07825	1.0:0.0:0.0:0.0	5.660	0.16942	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	4201.98	35	chr9	39358847	.	A	T	4201.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.507e+00;DP=1442;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=45.99;MQRankSum=-5.360e-01;QD=7.10;ReadPosRankSum=1.71;SOR=0.708	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1360	20	0	1	0
chr9	39359552	39359552	G	A	exonic	SPATA31A1	.	nonsynonymous SNV	SPATA31A1:NM_001085452:exon4:c.G1787A:p.R596Q,	.	.	575	879	68	0	0	68	0.0372399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.941	P	0.689	P	0.059	N	1.000	N	2.02	M	2.89	T	-1.067	T	0.037	T	0.244	1.529	11.07	0.581	0.225	-0.772	4.077	0.060	0.000599555131866	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1438348415	0.0070	0.0083	0.0052	0.0087	0.0585	0.0068	0.0068	0.0571	0.0565	0.0008	0.0028	0.0284	0.0295	0.0002	0.0241	0.0021	0.0090	0.0585	0.0047	0.0062	0.0036	0.0059	0.0638	0.0044	0.0043	0.0577	0.0554	0.0005	0	0.0034	0.0350	0.0135	0.0004	0.0069	0.0021	0.0067	0.0638	.	.	.	0.21	0.26714	T	.	.	.	.	.	.	0.058787	0.22374	N	0.321964	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.156	0.16168	-0.9832	0.34258	T	0.016	0.06425	T	10	0.004602343	0.00096	T	0.001214	0.01583	T	0.010	0.01040	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	.	.	.	-0.307185	0.07998	T	-0.679026	0.07043	T	0.10759462416172	0.13172	T	0.492351	0.15167	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.729478	0.10985	7.648	0.99726200316220281	0.82406	0.00671	0.02892	N	AEFI	0.035374	0.04543	N	-1.07284279045767	0.07147	0.3311479	-1.16747451909524	0.06460	0.3110174	1.35875070236354E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.95	1.03	0.19161	-0.149000	0.10189	-15.955000	0.00333	-0.211000	0.08354	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.1952:0.0:0.8048:0.0	4.654	0.11995	988	0.01987	SPATA31/FAM205	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	2988.92	42	chr9	39359552	.	G	A	2988.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=8.61;DP=1809;ExcessHet=0.6776;FS=6.752;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=26.03;MQRankSum=-5.570e-01;QD=3.61;ReadPosRankSum=1.29;SOR=0.345	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1360	17	0	4	0
chr9	39359649	39359649	C	A	exonic	SPATA31A1	.	nonsynonymous SNV	SPATA31A1:NM_001085452:exon4:c.C1884A:p.D628E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.005	B	0.01	B	0.050	N	1.000	N	-0.205	N	3.33	T	-0.987	T	0.008	T	0.024	-1.531	0.016	-3.9	-5.760	-6.744	2.074	0.021	0.000723305847733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998	0.02320	T	.	.	.	.	.	.	0.050239	0.02009	N	2.110680	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.047	0.01911	-0.9865	0.33469	T	0.008	0.02801	T	10	0.040856928	0.02690	T	7.23E-4	0.00472	T	0.021	0.04004	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	.	.	.	-0.434152	0.01400	T	-0.861406	0.00828	T	0.0524018360677947	0.05917	T	0.369963	0.08710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.455621	0.00035	0.001	0.37268077095087287	0.02445	0.00039	0.00329	N	AEFI	0.015013	0.00265	N	-2.77036048603673	0.00003	0.0001614755	-2.85351455747602	0.00003	0.000152721	0.999948673956142	0.47345	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.95	-3.9	0.03904	-6.034000	0.00103	-20.000000	0.00162	-4.173000	0.00039	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2503:0.4242:0.128:0.1975	2.074	0.03400	988	0.01987	SPATA31/FAM205	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	48.98	42	chr9	39359649	.	C	A	48.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=9.56;DP=2508;ExcessHet=0.0000;FS=39.832;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=35.15;MQRankSum=-2.678e+00;QD=0.14;ReadPosRankSum=-2.603e+00;SOR=3.160	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1360	20	0	1	0
chr9	39360569	39360569	C	T	exonic	SPATA31A1	.	nonsynonymous SNV	SPATA31A1:NM_001085452:exon4:c.C2804T:p.T935I,	.	.	431	1061	30	0	0	30	0.0139405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.001	B	0.012	B	0.145	N	1.000	N	0.695	N	3.65	T	-0.942	T	0.011	T	0.124	-0.226	2.906	0.41	-0.277	-0.208	4.427	0.013	0.000981093643997	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1404309393	0.0003	0.0039	0.0002	0.0004	0.0035	0.0003	0.0003	0.0032	0.0031	0.0002	6.733e-05	0.0007	0.0021	0	0.0012	4.415e-05	0.0003	0.0035	0.0024	0.0047	0.0021	0.0027	0.0270	0.0022	0.0021	0.0230	0.0214	0.0030	0	0.0016	0.0105	0.0029	0	0	0.0007	0.0030	0.0270	.	.	.	0.227	0.25362	T	.	.	.	.	.	.	0.145391	0.02919	N	1.773210	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.045	0.01740	-0.9505	0.40885	T	0.013	0.04985	T	10	0.006163448	0.00139	T	0.001346	0.01910	T	0.007	0.00512	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	.	.	.	-0.259766	0.12927	T	-0.610912	0.11911	T	0.115202185223906	0.13954	T	0.347365	0.07649	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096505	0.04991	1.549	0.45848329066527499	0.03629	0.00606	0.02697	N	AEFI	0.025690	0.01804	N	-1.13272285352989	0.06069	0.2783974	-1.2422400143797	0.05247	0.2495462	1.09969535250592E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.95	-0.146	0.12775	-0.720000	0.05072	-20.000000	0.00162	0.512000	0.23348	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.5248:0.2889:0.1863	3.072	0.05857	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	540.92	38	chr9	39360569	.	C	T	540.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.465;DP=1074;ExcessHet=0.6776;FS=4.328;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=31.18;MQRankSum=-3.041e+00;QD=1.32;ReadPosRankSum=-1.251e+00;SOR=0.365	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1399	17	0	4	0
chr9	39360728	39360728	G	A	exonic	SPATA31A1	.	nonsynonymous SNV	SPATA31A1:NM_001085452:exon4:c.G2963A:p.S988N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.749	P	0.234	B	0.040	U	1.000	N	1.095	L	3.62	T	-0.980	T	0.012	T	0.126	-0.754	0.805	-0.393	-0.145	-2.431	3.119	0.026	0.000575503952418	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	0	4.127e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.27767	T	.	.	.	.	.	.	0.040038	0.01872	N	2.849610	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.053	0.02462	-0.9930	0.31827	T	0.015	0.05849	T	9	0.08408821	0.14056	T	6.9E-4	0.00418	T	0.046	0.12618	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	.	.	.	-0.394743	0.02506	T	-0.804797	0.01785	T	0.421201199293137	0.29734	T	0.488651	0.14976	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171136	0.05600	2.055	0.87244648737433772	0.17089	0.00379	0.01920	N	AEFI	0.023791	0.01376	N	-0.865613977137726	0.11668	0.5643273	-1.10628838986564	0.07580	0.3692301	1.13249110805651E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.668	-0.366	0.11921	-1.856000	0.01754	-8.186000	0.01013	0.575000	0.29119	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1265.98	38	chr9	39360728	.	G	A	1265.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.541;DP=1239;ExcessHet=0.0000;FS=7.076;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=36.24;MQRankSum=-8.730e-01;QD=3.92;ReadPosRankSum=1.39;SOR=0.411	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1399	20	0	1	0
chr9	41127944	41127944	C	A	exonic	FOXD4L6	.	nonsynonymous SNV	FOXD4L6:NM_001085476:exon1:c.G440T:p.R147L,	.	.	918	595	5	4	0	13	0.0108063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.984	D	0.908	P	0.002	U	0.902	D	0.345	N	-3.7	D	0.528	D	0.767	D	0.347	3.422	17.57	2.2	1.220	2.231	4.869	0.594	0.0482814857573	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1246870379	0.0035	0.0033	0.0029	0.0042	0.0164	0.0034	0.0034	0.0154	0.0151	0.0003	0.0017	0.0040	3.266e-05	0.0019	0.0118	0.0026	0.0037	0.0164	0.0021	0.0022	0.0015	0.0028	0.0116	0.0016	0.0015	0.0040	0.0024	0.0007	0	0.0018	0.0044	0	0.0032	0	0.0023	0	0.0116	.	.	.	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.319	0.35938	.	.	.	.	.	.	.	0.45334756	0.58837	T	.	.	.	.	.	.	.	.	.	0.09492818859971522	0.09424	.	.	.	.	.	0.648786	0.89317	D	.	.	.	.	.	.	.	.	.	0.948605	0.80233	D	.	.	.	.	.	.	.	.	-5.084	0.37738	T	.	.	0.434	0.61403	A	.	.	4.560097	0.71854	25.7	.	.	.	.	.	.	0.549307	0.56224	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.736000	0.37811	2.496000	0.33006	0.284000	0.18682	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	.	.	.	994	0.00715	Fork head domain|Fork head domain|Fork head domain|Fork head domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05263	165.31	11	chr9	41127944	.	C	A	165.31	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.19;DP=101;ExcessHet=0.1190;FS=0.000;InbreedingCoeff=-0.0455;MLEAC=2;MLEAF=0.053;MQ=24.43;MQRankSum=1.28;QD=13.78;ReadPosRankSum=-5.240e-01;SOR=1.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:4,0:4:12:.:.:0,12,146	17	0	2	2
chr9	41133735	41133735	A	T	exonic	CBWD3;CBWD6	.	nonsynonymous SNV	CBWD3:NM_001378116:exon10:c.T677A:p.V226D	.	.	598	923	1	0	0	1	0.000541419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.154	B	0.219	B	0.507	N	1.000	D	1.41	L	2.31	T	-1.062	T	0.035	T	0.619	0.842	8.401	1.49	0.169	4.480	5.558	0.202	0.00427175291455	.	0.000798722	0.0004	0	0.0002	0	0	0.0003	0	0.0020	0.0001537	4	26028	rs561176216	0.0003	0.0003	0.0002	0.0003	0.0017	0.0003	0.0003	0.0013	0.0012	5.996e-05	0.0002	0	0	0	0.0017	0.0002	0.0002	0.0015	0.0002	0.0002	0.0002	0.0002	0.0023	0.0001	0.0001	0.0013	0.0010	0	0	0.0002	0	0	0	0	0.0002	0.0005	0.0023	.	.	.	0.449	0.25286	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.466	0.53006	.	.	.	.	.	.	.	0.19970506	0.35989	T	.	.	.	.	.	.	.	.	.	0.5730802083160909	0.57236	.	.	.	.	.	0.005082	0.04516	T	.	.	.	.	.	.	.	.	.	0.970003	0.89184	D	.	.	.	.	.	.	.	.	-5.005	0.36894	T	.	.	0.347	0.57853	A	.;.;.	.;.;.	2.443889	0.31461	18.75	.	.	.	.	.	.	0.527749	0.54956	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.134000	0.64611	4.679000	0.44312	0.351000	0.19951	1.000000	0.71638	0.985000	0.30750	0.874000	0.41677	.	.	.	994	0.00715	Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal|Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal;Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal|Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal;Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal|Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	924.33	72	chr9	41133735	.	A	T	924.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.153;DP=1426;ExcessHet=0.0000;FS=7.880;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=33.09;MQRankSum=1.71;QD=2.72;ReadPosRankSum=0.292;SOR=0.371	GT:AD:DP:GQ:PL	0/0:81,0:81:99:0,105,1575	19	0	1	1
chr9	41960805	41960805	A	-	exonic	CNTNAP3B	.	frameshift deletion	CNTNAP3B:NM_001201380:exon12:c.1844delT:p.L615Rfs*10,	.	.	427	1004	91	0	0	91	0.043354	.	.	389864	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs375643696	0.0047	0.0087	0.0036	0.0058	0.0387	0.0046	0.0045	0.0375	0.0371	0.0006	0.0020	0.0229	0.0131	0.0002	0.0169	0.0018	0.0062	0.0387	0.0035	0.0064	0.0027	0.0043	0.0425	0.0032	0.0031	0.0376	0.0357	0.0004	0	0.0024	0.0286	0.0057	0.0002	0.0034	0.0021	0.0043	0.0425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	569.64	34	chr9	41960804	.	CA	C	569.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.180e-01;DP=947;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0764;MLEAC=3;MLEAF=0.071;MQ=34.45;MQRankSum=-1.302e+00;QD=2.02;ReadPosRankSum=-1.400e-01;SOR=0.705	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1292	18	0	3	0
chr9	41997633	41997633	C	T	exonic	CNTNAP3B	.	nonsynonymous SNV	CNTNAP3B:NM_001201380:exon6:c.G862A:p.V288M,	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs539147702	9.449e-05	0.0001	6.813e-05	0.0001	0.0005	8.142e-05	7.657e-05	0.0004	0.0003	6.007e-05	0.0001	0	2.527e-05	1.873e-05	0.0002	6.478e-05	0.0002	0.0005	0.0001	0.0001	0.0001	0.0001	0.0010	6.565e-05	5.366e-05	0.0004	0.0003	7.383e-05	0	0.0002	0	0	9.455e-05	0	5.895e-05	0	0.0010	0.004	0.65419	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.15	0.86481	D	-2.18	0.49187	N	0.47	0.60749	.	.	.	.	.	.	.	0.27595696	0.45156	T	.	.	.	.	.	.	.	0.528959857459	0.52544	0.33629842525742126	0.33542	.	.	0.674912571907	0.63540	T	0.417321	0.77001	T	0.24249	0.77896	D	0.238322	0.85067	D	.	.	.	0.968103	0.88413	D	0.049877144	0.08925	0.21564758	0.46162	0.049877144	0.08925	0.21564758	0.46161	-8.0	0.61071	D	.	.	0.170	0.39356	B	.;.;.;.;.	.;.;.;.;.	3.075239	0.41348	21.3	0.64943463337550555	0.07634	0.37831	0.25851	N	AEFI	.	.	.	.	.	.	.	.	.	4.3333322787591E-6	0.01202	0.164513	0.03853	0	0.063388	0.01293	0	0.078618	0.02440	0	0.223356	0.04673	0	0.0852691	0.19417	1.71	-3.42	0.04521	1.926000	0.39715	-0.769000	0.07503	0.281000	0.18624	0.928000	0.32210	0.000000	0.08366	0.588000	0.31090	0.3267:0.4725:0.2008:0.0	4.540	0.11455	994	0.00715	Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	417.98	35	chr9	41997633	.	C	T	417.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.140e-01;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.21;MQRankSum=-3.040e-01;QD=3.98;ReadPosRankSum=-9.790e-01;SOR=0.752	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1284	20	0	1	0
chr9	41997752	41997752	C	T	exonic	CNTNAP3B	.	nonsynonymous SNV	CNTNAP3B:NM_001201380:exon6:c.G743A:p.G248D,	.	.	484	1035	3	0	0	3	0.00144718	.	.	2840694	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201186150	0.0003	0.0003	0.0003	0.0003	0.0070	0.0003	0.0003	0.0051	0.0045	0	0.0005	0.0073	0	0	0.0070	0.0001	0.0007	0.0001	0.0003	0.0004	0.0004	0.0002	0.0002	0.0002	0.0002	8.848e-05	6.704e-05	3.182e-05	0	0.0002	0.0079	0	0	0.0074	0.0002	0.0006	0	0.157	0.23997	T	0.361	0.23365	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.78	0.83737	D	-4.09	0.74821	D	0.388	0.42931	.	.	.	.	.	.	.	0.08796027	0.15099	T	.	.	.	.	.	.	.	0.561371282746	0.55799	0.6691868256479347	0.66856	.	.	0.662732899189	0.61800	T	0.417676	0.77025	T	0.255108	0.79076	D	0.128668	0.78804	D	.	.	.	0.770923	0.40135	T	0.09809833	0.23134	0.15527028	0.36405	0.09809833	0.23134	0.15527028	0.36404	-6.442	0.49836	T	.	.	0.128	0.31074	B	.;.;.;.;.	.;.;.;.;.	0.537169	0.09056	5.841	0.47415474220674952	0.03875	0.13653	0.17977	N	AEFI	.	.	.	.	.	.	.	.	.	2.1927600367109E-6	0.01202	0.294411	0.05044	0	0.063388	0.01293	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0882736	0.19981	1.71	1.71	0.23429	1.341000	0.33512	1.727000	0.28301	-2.082000	0.00402	0.796000	0.29669	0.923000	0.28366	0.004000	0.06068	0.0:1.0:0.0:0.0	9.078	0.35692	994	0.00715	Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	175.02	37	chr9	41997752	.	C	T	175.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.53;DP=567;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0274;MLEAC=1;MLEAF=0.024;MQ=33.72;MQRankSum=0.849;QD=4.73;ReadPosRankSum=1.31;SOR=0.086	GT:AD:DP:GQ:PL	0/0:27,0:27:72:0,72,1080	20	0	1	0
chr9	42077045	42077045	G	A	exonic	CNTNAP3B	.	nonsynonymous SNV	CNTNAP3B:NM_001201380:exon3:c.C214T:p.P72S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs570368450	0.0008	0.0008	0.0009	0.0008	0.0009	0.0008	0.0008	0.0008	0.0008	0.0003	0.0002	0	0	0.0026	0	0.0009	0.0009	7.377e-05	0.0008	0.0008	0.0008	0.0008	0.0012	0.0007	0.0007	0.0010	0.0009	6.006e-05	0	0.0001	0	0	0.0033	0	0.0012	0	0.0002	0.0	0.91255	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.56	0.97772	D	-7.48	0.94988	D	0.788	0.80572	.	.	.	.	.	.	.	0.8095614	0.80255	D	.	.	.	.	.	.	.	0.7131072147	0.71059	0.5462835517139388	0.54554	.	.	.	.	.	0.505327	0.82401	D	0.62653	0.99864	D	0.66219	0.99863	D	.	.	.	0.977402	0.96822	D	0.14572369	0.33391	0.28765395	0.54778	0.14572369	0.33390	0.28765395	0.54778	-9.306	0.69645	D	.	.	0.883	0.81672	P	.;.;.;.;.	.;.;.;.;.	4.276754	0.65116	24.8	0.73623944533312846	0.10395	0.89896	0.50665	D	AEFI	.	.	.	.	.	.	.	.	.	0.0694397534429974	0.15490	0.262962	0.04601	0	0.084543	0.02171	0	0.183335	0.04453	0	0.330827	0.05736	0	0.689193	0.42594	2.04	2.04	0.25787	8.495000	0.90317	8.133000	0.76660	0.551000	0.28136	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	9.665	0.39145	994	0.00715	Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02632	429.71	33	chr9	42077045	.	G	A	429.71	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.95;DP=589;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0270;MLEAC=1;MLEAF=0.026;MQ=36.06;MQRankSum=-4.740e-01;QD=13.86;ReadPosRankSum=0.060;SOR=0.559	GT:AD:DP:GQ:PL	0/0:29,0:29:84:0,84,1260	18	0	1	2
chr9	42186070	42186070	C	A	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.C368A:p.P123Q,	.	.	581	932	9	0	0	9	0.00480513	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.944	P	0.548	P	0.855	N	1.000	N	1.59	L	3.77	T	-0.991	T	0.093	T	0.28	0.292	5.579	-0.749	-0.251	-0.300	3.859	0.061	0.0458461558121	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200437387	0.0049	0.0070	0.0035	0.0063	0.0474	0.0048	0.0048	0.0460	0.0455	0.0006	0.0023	0.0205	0.0338	0.0001	0.0156	0.0009	0.0057	0.0474	0.0026	0.0045	0.0023	0.0028	0.0385	0.0023	0.0022	0.0325	0.0303	0.0003	0	0.0020	0.0176	0.0110	0.0001	0.0043	0.0011	0.0022	0.0385	0.053	0.38863	T	0.021	0.58089	D	.	.	.	.	.	.	0.855382	0.07084	N	1.091620	1	0.08975	N	.	.	.	3.76	0.03892	T	-3.08	0.63323	D	0.191	0.20925	-1.0092	0.27167	T	0.032	0.13898	T	10	0.18082914	0.33286	T	0.001276	0.01733	T	.	.	0.188	0.09776	0.0611884634855	0.05136	0.10648868283993874	0.10578	.	.	0.378626286983	0.22062	T	0.156846	0.49920	T	-0.26873	0.11899	T	-0.623789	0.10890	T	0.831403613090515	0.48639	D	0.477152	0.14354	T	0.13750571	0.31836	0.24512002	0.49993	0.13750571	0.31836	0.24512002	0.49992	-4.282	0.27924	T	.	.	0.128	0.27252	B	.	.	1.046530	0.14277	10.85	0.97870535469713527	0.36526	0.00576	0.02603	N	AEFI	0.046559	0.07744	N	-0.416166356307326	0.24902	1.347937	-0.707086879867335	0.16784	0.8895221	1.09928555570762E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.86	-0.0695	0.13084	-0.885000	0.04269	-10.357000	0.00710	0.213000	0.18003	0.000000	0.06391	0.000000	0.08366	0.215000	0.22324	0.0:0.5906:0.0:0.4094	4.028	0.09180	994	0.00715	Domain of unknown function DUF4599	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	486.37	11	chr9	42186070	.	C	A	486.37	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-4.150e-01;DP=311;ExcessHet=0.0082;FS=37.353;InbreedingCoeff=0.3489;MLEAC=4;MLEAF=0.095;MQ=24.52;MQRankSum=-1.107e+00;QD=11.31;ReadPosRankSum=-5.660e-01;SOR=6.099	GT:AD:DP:GQ:PL	0/0:21,0:21:60:0,60,900	18	1	2	0
chr9	42186631	42186631	G	A	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.G929A:p.C310Y,	.	.	455	1056	9	2	0	13	0.00611765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595	P	0.084	B	0.023	N	1.000	N	0	N	3.77	T	-1.015	T	0.040	T	0.359	-1.288	0.040	1.28	1.036	0.228	6.009	0.036	0.0646955841106	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200771177	0.0006	0.0025	0.0004	0.0008	0.0053	0.0006	0.0006	0.0049	0.0048	0.0016	0.0004	0.0028	0.0035	0	0.0021	8.3e-05	0.0008	0.0053	0.0007	0.0027	0.0006	0.0007	0.0062	0.0005	0.0005	0.0043	0.0036	0.0006	0	0.0010	0.0038	0.0011	0	0	0.0001	0.0032	0.0062	1.0	0.00964	T	0.105	0.38016	T	.	.	.	.	.	.	0.023486	0.01593	N	3.231580	1	0.08975	N	.	.	.	3.86	0.03624	T	-0.73	0.20576	N	0.126	0.11912	-0.9659	0.38033	T	0.009	0.03359	T	10	0.0149745345	0.00314	T	0.001519	0.02369	T	.	.	0.267	0.21418	0.0884992946249	0.08302	0.047873059595831706	0.04730	.	.	0.373483836651	0.21330	T	0.001135	0.00643	T	-0.286259	0.10016	T	-0.648967	0.09027	T	0.0845122974965608	0.10554	T	0.390761	0.09705	T	0.050307903	0.09069	0.08850789	0.20641	0.050307903	0.09068	0.08850789	0.20641	-4.643	0.32707	T	.	.	0.115	0.22969	B	.	.	0.517844	0.08869	5.646	0.86098588306632373	0.16312	0.01193	0.04262	N	AEFI	0.038261	0.05388	N	-1.14928773722591	0.05791	0.2649468	-1.16130384548169	0.06567	0.3165288	1.52139117515779E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.27	1.31	0.20837	0.417000	0.20934	-0.230000	0.10685	0.237000	0.18210	0.003000	0.16062	0.000000	0.08366	0.086000	0.17578	0.0:0.2995:0.7005:0.0	6.671	0.22256	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05	367.23	33	chr9	42186631	.	G	A	367.23	.	AC=2;AF=0.050;AN=40;BaseQRankSum=0.268;DP=1011;ExcessHet=0.0000;FS=11.281;InbreedingCoeff=0.8763;MLEAC=2;MLEAF=0.050;MQ=41.48;MQRankSum=0.349;QD=22.95;ReadPosRankSum=-1.198e+00;SOR=1.666	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1292	19	1	0	1
chr9	42188652	42188652	A	T	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.A2950T:p.S984C,	.	.	.	.	.	.	.	.	.	.	.	3330276	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs760927868	0.0001	9.315e-05	0.0001	9.771e-05	0.0003	8.633e-05	8.115e-05	0.0001	0.0001	0.0002	0.0003	0	0	0	0.0003	0.0001	0.0003	0	0.0003	0.0003	0.0002	0.0004	0.0019	0.0002	0.0002	0.0012	0.0010	0.0002	0	0.0019	0	0	0	0.0039	0.0001	0	0	0.012	0.54683	D	0.049	0.48336	D	.	.	.	.	.	.	0.040038	0.01872	U	2.849610	1	0.08975	N	.	.	.	3.66	0.04228	T	-2.13	0.48354	N	0.136	0.13341	-1.0254	0.21952	T	0.021	0.08917	T	10	0.07072401	0.10327	T	0.001132	0.01385	T	.	.	.	.	0.0482279557977	0.04254	0.07811452669794583	0.07747	.	.	0.389192998409	0.23556	T	0.005672	0.05119	T	-0.287484	0.09890	T	-0.650727	0.08903	T	0.456112027168274	0.31022	T	0.506749	0.16047	T	0.071757406	0.15910	0.056747094	0.10194	0.071757406	0.15910	0.056747094	0.10193	-5.232	0.39265	T	.	.	0.089	0.11989	B	.	.	0.067413	0.04768	1.386	0.95294846523026322	0.26607	0.00400	0.02002	N	AEFI	0.033677	0.04039	N	-0.671028079033772	0.16851	0.8621255	-0.976305461441966	0.10319	0.5189518	4.29989316486898E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.7	-2.96	0.05212	-0.618000	0.05674	-7.879000	0.01069	0.257000	0.18371	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.3198:0.2498:0.1837:0.2467	0.090	0.00035	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02778	391.12	33	chr9	42188652	.	A	T	391.12	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-2.977e+00;DP=475;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0287;MLEAC=1;MLEAF=0.028;MQ=29.52;MQRankSum=-3.440e-01;QD=17.78;ReadPosRankSum=-1.130e+00;SOR=0.622	GT:AD:DP:GQ:PL	0/1:7,15:22:99:404,0,166	17	0	1	3
chr9	42188750	42188750	G	C	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.G3048C:p.K1016N,	.	.	596	918	8	0	0	8	0.00433839	.	.	2341760	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200281358	0.0028	0.0060	0.0023	0.0034	0.0214	0.0028	0.0027	0.0205	0.0202	0.0180	0.0014	0.0107	0.0166	2.567e-05	0.0075	0.0005	0.0046	0.0214	0.0057	0.0083	0.0057	0.0058	0.0309	0.0054	0.0052	0.0258	0.0240	0.0156	0	0.0023	0.0153	0.0088	0.0001	0.0038	0.0008	0.0026	0.0309	0.161	0.23631	T	0.025	0.56192	D	.	.	.	.	.	.	0.026105	0.01643	N	2.417350	1	0.08975	N	.	.	.	3.71	0.04046	T	-2.05	0.47008	N	0.075	0.04913	-0.9636	0.38488	T	0.015	0.06186	T	10	0.0075236857	0.00171	T	0.001652	0.02702	T	.	.	.	.	0.0297737177859	0.01360	0.06230139930510809	0.06170	.	.	0.385538309813	0.23039	T	0.006817	0.06247	T	-0.381323	0.03056	T	-0.78552	0.02291	T	0.107186853885651	0.13129	T	0.512749	0.16428	T	0.07027803	0.15466	0.045775667	0.06235	0.07027803	0.15466	0.045775667	0.06235	-4.32	0.28457	T	.	.	0.193	0.41341	B	.	.	0.321828	0.06964	3.513	0.71932992325425538	0.09798	0.01773	0.05562	N	AEFI	0.035433	0.04561	N	-0.984318721304735	0.08937	0.4210447	-1.07989936418328	0.08097	0.396617	1.17012100519053E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.69	0.692	0.17213	0.026000	0.13490	-0.804000	0.07362	0.234000	0.18175	0.000000	0.06391	0.000000	0.08366	0.066000	0.16387	0.1643:0.0:0.5665:0.2691	2.903	0.05361	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	33.11	33	chr9	42188750	.	G	C	33.11	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.324e+00;DP=590;ExcessHet=0.0000;FS=4.129;InbreedingCoeff=0.0941;MLEAC=1;MLEAF=0.026;MQ=33.56;MQRankSum=0.112;QD=1.58;ReadPosRankSum=1.41;SOR=0.068	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,103,1462	18	0	1	2
chr9	42188817	42188817	C	T	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.C3115T:p.P1039S,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.216	B	0.135	B	0.728	N	1.000	N	1.67	L	3.67	T	-0.922	T	0.014	T	0.306	0.856	8.463	-0.032	0.005	-0.000	3.334	0.012	0.0456385205545	.	.	.	.	.	.	.	.	.	.	.	.	.	rs887831016	0.0002	0.0002	0.0002	0.0002	0.0034	0.0002	0.0002	0.0029	0.0027	0.0020	0.0001	0	0.0034	0	0.0007	8.193e-05	0.0003	7.165e-05	0.0006	0.0007	0.0007	0.0005	0.0020	0.0005	0.0005	0.0016	0.0014	0.0020	0	0.0002	0	0.0020	0	0	6.736e-05	0.0006	0.0003	0.028	0.46129	D	0.022	0.57587	D	.	.	.	.	.	.	0.727608	0.09882	N	0.817547	1	0.08975	N	.	.	.	3.76	0.03892	T	-1.24	0.31375	N	0.02	0.00308	-0.9852	0.33784	T	0.018	0.07612	T	10	0.07540965	0.11651	T	0.001683	0.02779	T	.	.	.	.	0.0954503805726	0.09146	0.12174031007356954	0.12101	.	.	0.281958669424	0.07768	T	0.00615	0.05589	T	-0.331355	0.06009	T	-0.713745	0.05104	T	0.293457955121994	0.24734	T	0.594241	0.21993	T	0.041383933	0.06083	0.046831865	0.06612	0.041383933	0.06083	0.046831865	0.06611	-2.49	0.05713	T	.	.	0.110	0.21125	B	.	.	0.663097	0.10314	7.046	0.98791614284431228	0.46301	0.00515	0.02406	N	AEFI	0.027532	0.02265	N	-0.631091542447212	0.18015	0.9319199	-0.868786497536138	0.12836	0.662633	1.09979115200389E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.69	-0.13	0.12839	-0.113000	0.10745	-20.000000	0.00162	0.210000	0.17975	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.5112:0.0:0.4888	4.784	0.12586	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1090.24	33	chr9	42188817	.	C	T	1090.24	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.983e+00;DP=681;ExcessHet=0.0000;FS=4.660;InbreedingCoeff=-0.0364;MLEAC=1;MLEAF=0.024;MQ=34.65;MQRankSum=1.61;QD=15.57;ReadPosRankSum=-1.408e+00;SOR=0.272	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,103,1462	20	0	1	0
chr9	42188945	42188945	A	C	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.A3243C:p.Q1081H,	.	.	538	982	1	1	0	3	0.00152517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.013	B	0.005	B	0.168	N	1.000	N	-0.55	N	4.61	T	-1.000	T	0.021	T	0.184	-0.620	1.246	-2.01	-0.512	-0.238	2.915	0.002	0.0936970882714	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs2605680	0.0011	0.0036	0.0008	0.0013	0.0111	0.0010	0.0010	0.0102	0.0098	0.0025	0.0005	0.0053	0.0111	3.903e-05	0.0033	0.0002	0.0012	0.0075	0.0019	0.0055	0.0016	0.0021	0.0205	0.0017	0.0016	0.0169	0.0155	0.0023	0	0.0010	0.0087	0.0033	0.0001	0	0.0005	0.0042	0.0205	0.442	0.09209	T	0.41	0.14544	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.9	0.10101	T	-2.0	0.46146	N	0.055	0.02658	.	.	.	.	.	.	.	0.10189211	0.18643	T	.	.	.	.	.	.	.	.	.	0.2119650982495831	0.21112	.	.	.	.	.	0.10144	0.40820	T	.	.	.	.	.	.	.	.	.	0.323768	0.06600	T	.	.	.	.	.	.	.	.	-4.881	0.35521	T	.	.	0.101	0.17700	B	.	.	-0.008512	0.04225	1.037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022000	0.13402	-2.566000	0.03601	-0.969000	0.01949	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07895	202.29	33	chr9	42188945	.	A	C	202.29	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.197;DP=821;ExcessHet=0.0000;FS=85.503;InbreedingCoeff=0.6074;MLEAC=2;MLEAF=0.053;MQ=46.53;MQRankSum=-5.113e+00;QD=1.34;ReadPosRankSum=0.797;SOR=6.961	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,103,1462	17	1	1	2
chr9	42189028	42189028	C	T	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.C3326T:p.S1109F,	.	.	511	994	16	1	0	18	0.00897308	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.003	B	0.081	N	1.000	N	0.255	N	3.68	T	-0.994	T	0.007	T	0.263	-0.582	1.384	-2.45	-0.940	-2.468	0.324	0.036	0.0467376322815	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs773788763	0.0013	0.0040	0.0009	0.0017	0.0130	0.0013	0.0012	0.0123	0.0121	0.0024	0.0004	0.0049	0.0091	5.813e-05	0.0038	0.0002	0.0015	0.0130	0.0017	0.0052	0.0014	0.0021	0.0194	0.0015	0.0015	0.0159	0.0146	0.0021	0	0.0011	0.0064	0.0022	0	0	0.0005	0.0026	0.0194	0.7	0.04175	T	0.027	0.55341	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.76	0.03892	T	-1.41	0.34795	N	0.082	0.05799	.	.	.	.	.	.	.	0.061792135	0.07802	T	.	.	.	.	.	.	.	.	.	0.056679223004083415	0.05608	.	.	.	.	.	0.004938	0.04364	T	.	.	.	.	.	.	.	.	.	0.423058	0.11286	T	.	.	.	.	.	.	.	.	-4.628	0.32521	T	.	.	0.133	0.28863	B	.	.	-1.072555	0.00674	0.019	.	.	.	.	.	.	0.019005	0.00622	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.688000	0.02027	-20.000000	0.00162	0.210000	0.17975	0.000000	0.06391	0.000000	0.08366	0.106000	0.18562	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	1552.46	206	chr9	42189028	.	C	T	1552.46	.	AC=4;AF=0.095;AN=42;BaseQRankSum=2.70;DP=3354;ExcessHet=0.0082;FS=83.153;InbreedingCoeff=0.4024;MLEAC=4;MLEAF=0.095;MQ=44.31;MQRankSum=-6.473e+00;QD=5.07;ReadPosRankSum=-1.780e-01;SOR=9.030	GT:AD:DP:GQ:PL	0/0:236,0:236:99:0,120,1800	18	1	2	0
chr9	42189270	42189270	A	G	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.A3568G:p.K1190E,	.	.	450	1070	1	1	0	3	0.00139991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.767	P	0.561	P	0.882	N	1.000	N	1.39	L	3.31	T	-1.006	T	0.083	T	0.164	1.399	10.61	0.034	0.020	0.384	3.089	0.049	0.0708469781235	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs199992322	0.0009	0.0009	0.0010	0.0009	0.0102	0.0009	0.0009	0.0093	0.0089	0.0102	0.0023	0.0004	0	0	0.0063	0.0007	0.0023	0	0.0037	0.0038	0.0035	0.0039	0.0111	0.0034	0.0033	0.0102	0.0098	0.0111	0	0.0026	0.0012	0	0	0.0208	0.0010	0.0036	0	0.131	0.26629	T	0.124	0.35455	T	.	.	.	.	.	.	0.881824	0.07240	N	1.066750	1	0.08975	N	.	.	.	3.48	0.05130	T	-2.28	0.50830	N	0.172	0.18376	-0.9780	0.35458	T	0.013	0.04938	T	10	0.0137094855	0.00290	T	0.002009	0.03642	T	.	.	.	.	0.0138822411134	0.00435	0.0370889762786495	0.03655	.	.	0.54098790884	0.44584	T	0.010853	0.09758	T	-0.275673	0.11131	T	-0.633761	0.10131	T	0.168218851089478	0.18459	T	0.513749	0.16498	T	0.15011472	0.34189	0.067406856	0.13940	0.15011472	0.34189	0.067406856	0.13940	-2.758	0.07803	T	.	.	0.093	0.14247	B	.	.	0.610252	0.09786	6.553	0.96934287398990548	0.31672	0.00513	0.02400	N	AEI	0.037057	0.05035	N	-0.997382479764593	0.08660	0.4068646	-1.1304093267943	0.07124	0.3453886	1.09678371980666E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.69	0.114	0.13945	0.921000	0.28338	-5.893000	0.01561	0.257000	0.18371	0.001000	0.13787	0.000000	0.08366	0.015000	0.10482	0.5745:0.2698:0.1557:0.0	2.812	0.05111	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	3981.71	206	chr9	42189270	.	A	G	3981.71	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.580e-01;DP=3370;ExcessHet=0.0000;FS=2.851;InbreedingCoeff=-0.0270;MLEAC=1;MLEAF=0.026;MQ=54.43;MQRankSum=-4.399e+00;QD=11.51;ReadPosRankSum=1.41;SOR=0.563	GT:AD:DP:GQ:PL	0/1:188,158:346:99:3995,0,5041	18	0	1	2
chr9	42189345	42189345	A	G	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.A3643G:p.K1215E,	.	.	462	1051	3	6	0	15	0.0070855	.	.	3185425	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.18	T	0.02	B	0.088	B	0.615	N	1.000	N	1.355	L	3.76	T	-0.943	T	0.013	T	0.196	0.445	6.417	-0.703	-0.171	-0.270	5.356	0.010	0.00114211886846	.	.	1.759e-05	0	0	0	0	3.155e-05	0	0	3.84e-05	1	26028	rs2605683	0.0008	0.0025	0.0006	0.0010	0.0152	0.0008	0.0008	0.0142	0.0137	0.0004	0.0002	0.0004	0.0152	0	0.0011	0.0001	0.0007	0.0051	0.0004	0.0021	0.0003	0.0005	0.0046	0.0003	0.0003	0.0030	0.0025	0.0003	0	0.0001	0.0013	0.0011	0	0	0.0002	0.0005	0.0046	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.09	0.02973	T	1.42	0.00815	N	0.072	0.04547	.	.	.	.	.	.	.	0.03878805	0.02321	T	.	.	.	.	.	.	.	.	.	0.021135356792217095	0.02066	.	.	.	.	.	0.002409	0.01807	T	.	.	.	.	.	.	.	.	.	0.278972	0.04839	T	.	.	.	.	.	.	.	.	-2.213	0.04103	T	.	.	0.059	0.00754	B	.	.	-0.450086	0.02032	0.183	.	.	.	.	.	.	0.013809	0.00197	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.281000	0.08489	-1.660000	0.04967	-0.885000	0.02425	0.004000	0.16614	0.000000	0.08366	0.006000	0.07323	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05263	461.56	206	chr9	42189345	.	A	G	461.56	.	AC=2;AF=0.053;AN=38;DP=3377;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.053;MQ=32.17;QD=27.15;SOR=3.383	GT:AD:DP:GQ:PL	0/0:304,0:304:99:0,120,1800	18	1	0	2
chr9	42189370	42189370	A	G	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.A3668G:p.H1223R,	.	.	459	1054	3	6	0	15	0.00706547	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	B	0.007	B	0.010	N	1.000	N	0.345	N	3.85	T	-0.949	T	0.008	T	0.397	-0.445	1.937	-0.098	-0.012	-0.381	3.997	0.028	0.0583857480729	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs2605684	0.0009	0.0029	0.0006	0.0011	0.0102	0.0008	0.0008	0.0094	0.0090	0.0029	0.0004	0.0008	0.0102	0	0.0011	7.088e-05	0.0007	0.0075	0.0005	0.0021	0.0005	0.0005	0.0021	0.0004	0.0004	0.0010	0.0008	0.0011	0	0.0004	0.0003	0.0002	0	0	0.0001	0.0016	0.0021	0.52	0.07259	T	0.878	0.03241	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.95	0.03382	T	0.44	0.03243	N	0.016	0.00203	.	.	.	.	.	.	.	0.026660025	0.00827	T	.	.	.	.	.	.	.	.	.	0.011995039232713214	0.01158	.	.	.	.	.	1.51E-4	0.00022	T	.	.	.	.	.	.	.	.	.	0.251175	0.03802	T	.	.	.	.	.	.	.	.	-2.786	0.08055	T	.	.	0.051	0.00161	B	.	.	-1.082120	0.00662	0.018	.	.	.	.	.	.	0.025104	0.01662	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.920000	0.04121	-20.000000	0.00162	-2.266000	0.00332	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05263	321.54	206	chr9	42189370	.	A	G	321.54	.	AC=2;AF=0.053;AN=38;DP=3369;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.8795;MLEAC=2;MLEAF=0.053;MQ=32.35;QD=32.15;SOR=0.693	GT:AD:DP:GQ:PL	0/0:304,0:304:99:0,120,1800	18	1	0	2
chr9	65283490	65283491	GA	-	exonic	FOXD4L5	.	frameshift deletion	FOXD4L5:NM_001126334:exon1:c.887_888del:p.F296Sfs*91,	.	.	482	1011	29	0	0	29	0.0141394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00559105	0.2313	0.0180	0.1389	0	0.6667	0.1933	0	0.4310	0.0011526	30	26028	rs562882568	0.0058	0.0066	0.0052	0.0064	0.0244	0.0057	0.0056	0.0235	0.0232	0.0007	0.0023	0.0070	2.519e-05	0.0066	0.0065	0.0048	0.0055	0.0244	0.0038	0.0043	0.0036	0.0040	0.0234	0.0035	0.0034	0.0199	0.0186	0.0006	0	0.0045	0.0052	0	0.0058	0.0137	0.0041	0.0038	0.0234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	995.94	34	chr9	65283489	.	GGA	G	995.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=767;ExcessHet=0.0000;FS=3.288;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=30.15;MQRankSum=1.31;QD=12.00;ReadPosRankSum=0.751;SOR=1.148	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1468	20	0	1	0
chr9	65737542	65737542	G	T	exonic	FOXD4L4	.	nonsynonymous SNV	FOXD4L4:NM_199244:exon1:c.G397T:p.G133C,	.	.	308	1197	17	0	0	17	0.00705102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	0.001	U	0.997	D	2.59	M	-3.73	D	0.769	D	0.871	D	0.331	2.352	13.82	0.598	0.655	4.372	7.222	0.673	0.456226025351	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1437499926	0.0014	0.0015	0.0011	0.0017	0.0114	0.0014	0.0014	0.0108	0.0106	0.0002	0.0005	0	0	1.876e-05	0.0027	0.0009	0.0015	0.0114	0.0007	0.0010	0.0006	0.0009	0.0088	0.0006	0.0006	0.0067	0.0059	0.0003	0	0.0002	0	0	0	0.0034	0.0008	0	0.0088	0.0	0.91255	D	0.017	0.60337	D	.	.	.	.	.	.	0.001285	0.39521	U	0.000000	0.999786	0.49076	D	.	.	.	-3.81	0.95728	D	-8.75	0.97713	D	0.466	0.50237	0.946	0.96330	D	0.903	0.96785	D	9	0.5792824	0.65757	D	0.890605	0.99171	D	.	.	0.776	0.90157	0.98616404326	0.98601	0.15124594949120573	0.15046	.	.	.	.	.	0.840183	0.96266	D	0.207293	0.74575	D	0.0599853	0.74243	D	0.978072681539966	0.72148	D	0.591441	0.21800	T	0.13472265	0.31292	0.13571535	0.32486	0.13472265	0.31292	0.13571535	0.32485	-10.777	0.78421	D	.	.	0.884	0.81709	P	.	.	5.653684	0.92827	33	0.99742190336864656	0.83555	0.97816	0.77344	D	AEFI	0.595395	0.58996	D	0.381350769216047	0.60412	4.229825	0.274059485475099	0.54028	3.569263	0.116742206888214	0.16785	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.18	2.18	0.26813	6.208000	0.72099	11.284000	0.91844	0.318000	0.19305	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	10.061	0.41446	994	0.00715	Fork head domain|Fork head domain|Fork head domain|Fork head domain|Fork head domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	552.98	66	chr9	65737542	.	G	T	552.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.760e-01;DP=932;ExcessHet=0.0000;FS=22.914;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=27.58;MQRankSum=0.665;QD=8.38;ReadPosRankSum=-8.940e-01;SOR=4.487	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1450	20	0	1	0
chr9	66919652	66919652	G	A	exonic	ZNF658	.	nonsynonymous SNV	ZNF658:NM_001317916:exon5:c.G2086A:p.A696T	.	.	400	1121	1	0	0	1	0.000445831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.004	B	.	.	0.932	N	0.455	N	3.16	T	-0.925	T	0.009	T	0.074	-0.679	1.040	-1.38	-0.386	-0.829	2.298	0.013	0.00909704141002	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs553939055	2.808e-05	2.805e-05	1.499e-05	4.13e-05	0.0005	2.089e-05	1.88e-05	0.0003	0.0003	0	0	0	0	0	0	0	1.66e-05	0.0005	1.332e-05	1.318e-05	1.302e-05	1.364e-05	0.0002	2.21e-06	8.3e-07	.	.	0	0	0	0	0	0	0	1.48e-05	0	0.0002	.	.	.	0.583	0.08419	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.15888	.	.	.	.	.	.	.	0.06785303	0.09512	T	.	.	.	.	.	.	.	.	.	0.03207487377538666	0.03155	.	.	.	.	.	3.53E-4	0.00102	T	.	.	.	.	.	.	.	.	.	0.257374	0.04056	T	.	.	.	.	.	.	.	.	-6.66	0.51508	T	.	.	0.175	0.38354	B	.;.	.;.	0.505906	0.08746	5.524	.	.	.	.	.	.	0.025801	0.01829	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.527000	0.06287	-13.325000	0.00466	0.318000	0.19305	0.000000	0.06391	0.000000	0.08366	0.989000	0.64315	.	.	.	994	0.00715	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	967.06	46	chr9	66919652	.	G	A	967.06	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.823e+00;DP=816;ExcessHet=0.0000;FS=0.729;InbreedingCoeff=-0.0294;MLEAC=1;MLEAF=0.024;MQ=42.36;MQRankSum=-3.682e+00;QD=9.21;ReadPosRankSum=0.019;SOR=0.784	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr9	66987228	66987228	T	G	exonic	SPATA31A3	.	nonsynonymous SNV	SPATA31A3:NM_001083124:exon4:c.A3270C:p.K1090N,	.	.	662	791	60	9	0	78	0.046988	.	.	2334438	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs201727394	0.0060	0.0096	0.0046	0.0075	0.0460	0.0059	0.0059	0.0446	0.0441	0.0036	0.0035	0.0218	0.0060	0.0005	0.0186	0.0024	0.0085	0.0460	0.0044	0.0098	0.0036	0.0052	0.0457	0.0041	0.0039	0.0398	0.0375	0.0042	0	0.0027	0.0222	0.0046	0.0001	0.0083	0.0016	0.0040	0.0457	.	.	.	0.681	0.06090	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.06059	.	.	.	.	.	.	.	0.004206866	0.00084	T	.	.	.	.	.	.	.	.	.	0.19206673839906713	0.19124	.	.	.	.	.	5.89E-4	0.00238	T	.	.	.	.	.	.	.	.	.	0.312769	0.06128	T	.	.	.	.	.	.	.	.	-4.107	0.25394	T	.	.	0.064	0.01762	B	.	.	0.388888	0.07604	4.266	.	.	.	.	.	.	0.011270	0.00096	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111000	0.15292	-5.189000	0.01814	-0.868000	0.02581	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1579	3889.68	35	chr9	66987228	.	T	G	3889.68	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.26;DP=1122;ExcessHet=0.0015;FS=8.850;InbreedingCoeff=0.6042;MLEAC=7;MLEAF=0.184;MQ=47.07;MQRankSum=-7.229e+00;QD=7.75;ReadPosRankSum=1.41;SOR=1.270	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	15	2	2	2
chr9	66987438	66987438	C	G	exonic	SPATA31A3	.	nonsynonymous SNV	SPATA31A3:NM_001083124:exon4:c.G3060C:p.K1020N,	.	.	597	890	35	0	0	35	0.0192837	.	.	2334437	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201123059	0.0036	0.0077	0.0028	0.0044	0.0278	0.0035	0.0035	0.0268	0.0264	0.0004	0.0013	0.0138	0.0052	0.0002	0.0125	0.0015	0.0054	0.0278	0.0036	0.0045	0.0028	0.0046	0.0533	0.0033	0.0032	0.0464	0.0437	0.0004	0	0.0023	0.0264	0.0043	0.0005	0	0.0019	0.0067	0.0533	.	.	.	0.02	0.58613	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.09490	.	.	.	.	.	.	.	0.08270806	0.13680	T	.	.	.	.	.	.	.	.	.	0.04967283740294485	0.04910	.	.	.	.	.	0.006475	0.05902	T	.	.	.	.	.	.	.	.	.	0.512749	0.16428	T	.	.	.	.	.	.	.	.	-4.305	0.28246	T	.	.	0.261	0.49538	B	.	.	0.186880	0.05734	2.180	.	.	.	.	.	.	0.031355	0.03337	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.603000	0.05770	-10.334000	0.00713	0.212000	0.17994	0.000000	0.06391	0.000000	0.08366	0.069000	0.16583	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05	255.8	25	chr9	66987438	.	C	G	255.8	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-1.327e+00;DP=480;ExcessHet=0.1072;FS=14.748;InbreedingCoeff=-0.0634;MLEAC=2;MLEAF=0.050;MQ=32.87;MQRankSum=-3.072e+00;QD=6.09;ReadPosRankSum=0.00;SOR=3.419	GT:AD:DP:GQ:PL	0/0:21,0:21:60:0,60,835	18	0	2	1
chr9	66989569	66989569	C	T	exonic	SPATA31A3	.	nonsynonymous SNV	SPATA31A3:NM_001083124:exon4:c.G929A:p.C310Y,	.	.	470	1035	17	0	0	17	0.00814566	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.661	P	0.076	B	0.023	N	1.000	N	0	N	3.77	T	-0.964	T	0.007	T	0.258	-0.617	1.256	1.31	0.484	1.115	6.671	0.061	0.00193622393645	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879985392	0.0002	0.0012	0.0002	0.0002	0.0022	0.0002	0.0002	0.0018	0.0017	0.0001	4.847e-05	0.0014	0.0022	0	0.0014	4.704e-05	9.66e-05	0.0007	0.0016	0.0023	0.0014	0.0018	0.0188	0.0014	0.0013	0.0134	0.0116	0.0013	0	0.0012	0.0079	0.0034	0	0.0057	0.0010	0.0011	0.0188	.	.	.	0.282	0.21545	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.18784	.	.	.	.	.	.	.	0.0052527785	0.00115	T	.	.	.	.	.	.	.	.	.	0.050211009429770935	0.04964	.	.	.	.	.	8.91E-4	0.00456	T	.	.	.	.	.	.	.	.	.	0.392161	0.09760	T	.	.	.	.	.	.	.	.	-4.488	0.30731	T	.	.	0.114	0.22680	B	.	.	0.512350	0.08810	5.590	.	.	.	.	.	.	0.051649	0.09146	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.723000	0.25609	-1.321000	0.05722	0.215000	0.18024	0.001000	0.13787	0.000000	0.08366	0.110000	0.18741	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	322.94	44	chr9	66989569	.	C	T	322.94	.	AC=4;AF=0.095;AN=42;BaseQRankSum=2.29;DP=981;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1057;MLEAC=4;MLEAF=0.095;MQ=23.55;MQRankSum=-3.645e+00;QD=1.24;ReadPosRankSum=2.22;SOR=0.035	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,116,1800	17	0	4	0
chr9	66990174	66990174	G	T	exonic	SPATA31A3	.	nonsynonymous SNV	SPATA31A3:NM_001083124:exon4:c.C324A:p.H108Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs905444180	6.163e-06	8.893e-06	5.45e-06	6.884e-06	0.0002	2.9e-06	2.1e-06	1.94e-06	1.28e-06	0	0	0	0	0	0.0002	5.399e-06	1.659e-05	1.16e-05	6.865e-06	1.318e-05	1.333e-05	0	1.52e-05	0	0	.	.	0	0	0	0	0	0	0	1.52e-05	0	0	.	.	.	0.193	0.28210	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.14338	.	.	.	.	.	.	.	0.11886829	0.22481	T	.	.	.	.	.	.	.	.	.	0.04970244512704096	0.04913	.	.	.	.	.	0.176313	0.52621	T	.	.	.	.	.	.	.	.	.	0.371663	0.08799	T	.	.	.	.	.	.	.	.	-3.182	0.12262	T	.	.	0.145	0.31906	B	.	.	-0.057221	0.03902	0.858	.	.	.	.	.	.	0.031355	0.03337	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.254000	0.08801	-3.202000	0.02975	0.240000	0.18237	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	994	0.00715	Domain of unknown function DUF4599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	476.98	107	chr9	66990174	.	G	T	476.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.080e-01;DP=898;ExcessHet=0.0000;FS=18.008;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=29.96;MQRankSum=-4.000e-02;QD=4.46;ReadPosRankSum=0.361;SOR=0.085	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr9	66990502	66990502	C	A	exonic	SPATA31A3	.	nonsynonymous SNV	SPATA31A3:NM_001083124:exon3:c.G251T:p.G84V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.076	B	0.02	B	.	.	1.000	D	0.345	N	3.72	T	-0.884	T	0.007	T	0.273	0.072	4.391	0.389	0.092	0.086	2.852	0.037	0.00237088460897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.30729	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.11483	.	.	.	.	.	.	.	0.07958597	0.12820	T	.	.	.	.	.	.	.	.	.	0.04523837151127712	0.04467	.	.	.	.	.	0.00169	0.01120	T	.	.	.	.	.	.	.	.	.	0.39666	0.09990	T	.	.	.	.	.	.	.	.	-2.634	0.06766	T	.	.	0.123	0.25624	B	.	.	0.525398	0.08943	5.722	.	.	.	.	.	.	0.036808	0.04962	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.635000	0.05568	-7.730000	0.01097	-0.801000	0.03157	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	.	.	.	994	0.00715	Domain of unknown function DUF4599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	134.98	14	chr9	66990502	.	C	A	134.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.085e+00;DP=360;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0248;MLEAC=1;MLEAF=0.024;MQ=24.48;MQRankSum=-9.980e-01;QD=7.50;ReadPosRankSum=-6.800e-01;SOR=0.368	GT:AD:DP:GQ:PL	0/0:8,0:8:21:0,21,315	20	0	1	0
chr9	68303745	68303745	C	T	exonic	FOXD4L3	.	nonsynonymous SNV	FOXD4L3:NM_199135:exon1:c.C794T:p.P265L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.89	P	0.119	B	0.002	U	0.992	D	1.1	L	-3.58	D	0.434	D	0.646	D	0.516	2.477	14.24	3.84	1.847	1.502	13.590	0.500	0.534401664856	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1319728935	2.78e-06	3.42e-06	0	5.585e-06	9.03e-07	6.5e-07	4.4e-07	.	.	0	0	0	0	0	0	9.03e-07	5.018e-05	0	6.705e-06	6.575e-06	1.306e-05	0	1.494e-05	0	0	.	.	0	0	0	0	0	0	0	1.494e-05	0	0	0.001	0.78490	D	0.005	0.72224	D	0.89	0.48942	P	0.119	0.32162	B	0.001556	0.38671	U	0.000000	0.992169	0.41571	D	1.585	0.39878	L	-3.58	0.94940	D	-4.24	0.76015	D	0.329	0.36989	0.434	0.89598	D	0.646	0.87661	D	10	0.23377943	0.40403	T	0.534402	0.95636	D	0.500	0.78350	0.478	0.55663	0.405700215632	0.40186	0.14764172549629637	0.14686	.	.	0.845856964588	0.88987	D	0.092622	0.39043	T	0.143185	0.68627	D	-0.0321018	0.68229	D	0.962273299694061	0.66321	D	0.710029	0.32075	T	0.23490195	0.46317	0.3231055	0.58245	0.23490195	0.46317	0.3231055	0.58244	-4.844	0.35100	T	.	.	0.375	0.58144	A	.	.	4.220850	0.63840	24.6	0.99833441992193084	0.91456	0.29321	0.23791	N	AEFI	0.079083	0.15967	N	-0.212140879842932	0.32634	1.842617	-0.251049265065709	0.29735	1.668367	1.02318275065074E-5	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.84	3.84	0.43422	1.147000	0.31213	5.639000	0.49142	0.444000	0.21144	0.005000	0.17040	0.999000	0.35428	0.012000	0.09680	0.0:1.0:0.0:0.0	13.590	0.61419	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	48.98	19	chr9	68303745	.	C	T	48.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.628;DP=498;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=37.84;MQRankSum=-3.090e-01;QD=3.06;ReadPosRankSum=-4.250e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:32,0:32:81:0,81,1215	20	0	1	0
chr9	68391632	68391632	C	G	exonic	PGM5	.	nonsynonymous SNV	PGM5:NM_021965:exon5:c.C796G:p.H266D,	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.083	B	0.208	B	0.003	N	0.999	D	2.98	M	-0.08	T	-0.502	T	0.307	T	0.543	2.335	13.77	4.02	1.068	2.611	6.961	0.348	0.181358550854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.738e-06	2.736e-06	2.724e-06	2.751e-06	0.0007	6.4e-07	4.3e-07	0.0002	0.0001	0	0	0	0	0	0.0007	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.083	0.24734	B	0.208	0.37221	B	0.003410	0.34985	N	0.304797	0.998628	0.45182	D	3.24	0.89678	M	-0.08	0.63911	T	-8.06	0.97347	D	0.544	0.57775	-0.5020	0.68578	T	0.307	0.67731	T	10	0.836751	0.82830	D	0.181359	0.85550	D	0.348	0.66956	0.775	0.90080	0.472611402724	0.46890	0.7114830294171606	0.71090	0.60118110656	0.55167	0.642312526703	0.58893	T	0.663421	0.89927	D	0.0370686	0.56659	T	-0.18453	0.56100	T	0.997135877609253	0.90849	D	0.966503	0.87759	D	0.6624897	0.76032	0.60915804	0.77269	0.6624897	0.76033	0.60915804	0.77270	-13.439	0.91090	D	.	.	0.367	0.69946	A	.;.;.	.;.;.	4.065930	0.60378	24.2	0.98497443263767925	0.42180	0.92469	0.55784	D	AEFI	0.739897	0.68431	D	-0.0671067509116867	0.38843	2.281185	-0.00732247122637028	0.39383	2.334264	0.00157368319332963	0.08657	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.92	4.02	0.45968	2.668000	0.46481	4.011000	0.41162	-0.203000	0.08628	0.996000	0.39380	1.000000	0.68203	0.978000	0.57271	0.0:0.7269:0.0:0.2731	6.961	0.23777	988	0.01987	.;Alpha-D-phosphohexomutase, alpha/beta/alpha domain II;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	729.33	33	chr9	68391632	.	C	G	729.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.391e+00;DP=735;ExcessHet=0.0000;FS=3.271;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=50.97;MQRankSum=-7.500e-02;QD=9.86;ReadPosRankSum=3.28;SOR=0.366	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1214	19	0	1	1
chr9	68391660	68391660	C	T	exonic	PGM5	.	nonsynonymous SNV	PGM5:NM_021965:exon5:c.C824T:p.T275M,	.	.	434	1053	35	0	0	35	0.0163475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.953	D	0.000	D	0.997	D	0.015	N	-0.07	T	-0.717	T	0.039	T	0.569	3.778	19.18	4.92	2.274	3.210	16.875	0.255	0.0420124463087	.	.	.	.	.	.	.	.	.	.	.	.	.	rs2482223	3.156e-05	0.0002	2.048e-05	4.275e-05	0.0003	2.419e-05	2.164e-05	0.0002	0.0002	0	2.252e-05	0	0.0002	0	0	9.01e-06	0	0.0003	0.0001	0.0009	0.0001	0.0001	0.0004	6.734e-05	5.502e-05	7.124e-05	3.157e-05	0.0001	0	6.798e-05	0	0.0004	0.0002	0	7.552e-05	0	0.0002	0.033	0.51853	D	0.023	0.57587	D	0.997	0.70673	D	0.953	0.69275	D	0.000200	0.48115	D	0.177992	0.99672	0.43377	D	1.46	0.36832	L	-0.07	0.63738	T	-1.62	0.42384	N	0.431	0.47022	-0.7165	0.59634	T	0.039	0.16806	T	10	0.412278	0.56306	T	0.042012	0.60239	D	0.255	0.56562	.	.	0.389984549148	0.38611	0.540163387264652	0.53941	0.834181606955	0.67746	0.740072250366	0.72984	T	0.278625	0.65129	T	-0.0107297	0.50165	T	-0.253189	0.49503	T	0.96870094537735	0.68335	D	0.788221	0.44094	T	0.11474768	0.27086	0.14532493	0.34470	0.11474768	0.27085	0.14532493	0.34469	-3.495	0.30069	T	.	.	0.086	0.16582	B	.;.;.	.;.;.	4.888857	0.80252	27.3	0.99874385469611704	0.95160	0.88987	0.49190	D	AEFI	0.468069	0.51503	N	0.399773949466365	0.61409	4.341719	0.44267257334315	0.64249	4.67563	0.0220376454646537	0.13399	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.92	4.92	0.64147	3.277000	0.51358	7.649000	0.63599	0.581000	0.30040	0.994000	0.38300	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	16.875	0.85916	988	0.01987	.;Alpha-D-phosphohexomutase, alpha/beta/alpha domain II;.	.	.	.	.	rs148242804	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02632	32.7	97	chr9	68391660	.	C	T	32.7	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.24;DP=1292;ExcessHet=0.0000;FS=41.891;InbreedingCoeff=-0.0392;MLEAC=1;MLEAF=0.026;MQ=52.80;MQRankSum=-5.524e+00;QD=0.31;ReadPosRankSum=-2.638e+00;SOR=4.423	GT:AD:DP:GQ:PL	0/0:93,0:93:74:0,74,2470	18	0	1	2
chr9	68499286	68499286	T	G	exonic	PGM5	.	nonsynonymous SNV	PGM5:NM_021965:exon10:c.T1539G:p.S513R,	.	.	415	1094	13	0	0	13	0.00590641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.865	P	0.52	P	0.000	D	1.000	D	1.39	L	0.97	T	-1.035	T	0.109	T	0.569	3.612	18.39	3.01	0.275	0.273	9.250	0.190	0.0214740572675	0.0007	0.000199681	0.0004	9.61e-05	0.0003	0	0	0.0007	0	0.0002	0.0004463	69	154602	rs144017764	0.0006	0.0006	0.0006	0.0006	0.0064	0.0006	0.0006	0.0048	0.0042	0.0004	0.0010	7.652e-05	2.519e-05	1.872e-05	0.0064	0.0007	0.0009	0.0005	0.0005	0.0005	0.0004	0.0006	0.0015	0.0004	0.0004	0.0010	0.0009	4.814e-05	0	0.0015	0	0	0	0.0034	0.0007	0.0005	0.0006	0.0	0.91255	D	0.0	0.92824	D	0.865	0.47557	P	0.52	0.48197	P	0.000013	0.62929	D	0.165377	0.997275	0.43759	D	1.7	0.43825	L	0.97	0.42502	T	-2.2	0.49519	N	0.657	0.66700	-1.0354	0.18731	T	0.109	0.39392	T	10	0.25374416	0.42745	T	0.021474	0.44254	T	0.190	0.46781	0.689	0.82653	0.0675242888579	0.06100	0.847781498741892	0.84739	0.476556053232	0.46784	0.538131833076	0.44181	T	0.425621	0.77568	T	-0.361542	0.04043	T	-0.371367	0.36730	T	0.0954403374918855	0.11848	T	0.951205	0.81406	D	0.44824532	0.63930	0.46855995	0.69174	0.44824532	0.63931	0.46855995	0.69174	-2.996	0.10138	T	.	.	0.366	0.57560	A	.	.	2.953479	0.39306	20.9	0.9960021673188082	0.74160	0.82357	0.41597	D	AEFBI	0.518455	0.54414	D	0.124562971215066	0.47610	2.984344	0.144328333839571	0.46843	2.923694	0.999957521360297	0.48110	0.497415	0.19182	0	0.563428	0.19063	0	0.59043	0.30614	0	0.613276	0.41899	0	.	.	5.83	3.01	0.33872	0.084000	0.14738	-4.244000	0.02260	0.665000	0.62972	0.973000	0.34540	0.000000	0.08366	0.998000	0.85391	0.0:0.1669:0.0:0.8331	9.250	0.36712	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1834.98	33	chr9	68499286	.	T	G	1834.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.843;DP=824;ExcessHet=0.0000;FS=3.034;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=-5.050e-01;SOR=0.986	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1233	20	0	1	0
chr9	68537285	68537285	C	T	exonic	TMEM252	.	nonsynonymous SNV	TMEM252:NM_153237:exon2:c.G487A:p.A163T,	.	.	431	1084	7	0	0	7	0.00321839	.	.	3346360	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.454	P	0.087	B	0.189	N	1.000	N	1.995	M	.	.	-1.027	T	0.083	T	0.13	2.029	12.74	1.8	0.068	-0.005	4.646	0.027	0.0132951544094	0.0009	0.000399361	0.0006	0.0002	0.0004	0	0	0.0009	0	0.0007	0.0005498	85	154602	rs141633262	0.0004	0.0004	0.0004	0.0005	0.0037	0.0004	0.0004	0.0025	0.0021	0.0002	0.0004	0.0070	2.552e-05	0	0.0037	0.0003	0.0008	0.0006	0.0004	0.0004	0.0004	0.0003	0.0006	0.0003	0.0003	0.0003	0.0002	2.404e-05	0.0022	0.0003	0.0043	0	0	0.0136	0.0004	0.0009	0.0006	0.139	0.25768	T	0.022	0.57587	D	0.454	0.36182	P	0.087	0.29615	B	0.189123	0.16894	N	0.538594	1	0.08975	N	1.7	0.43825	L	.	.	.	-2.74	0.58248	D	0.019	0.00279	-1.0268	0.21494	T	0.083	0.32671	T	9	0.003957838	0.00076	T	0.013295	0.32578	T	0.027	0.05988	.	.	0.0138822411134	0.00435	0.10101517862697994	0.10032	0.0804966138966	0.09062	0.312860846519	0.12340	T	0.089802	0.38449	T	-0.50146	0.00561	T	-0.59279	0.13426	T	0.018145002747263	0.00536	T	0.393061	0.09795	T	0.07236918	0.16094	0.112122476	0.27051	0.07236918	0.16094	0.112122476	0.27050	-3.764	0.20268	T	.	.	0.073	0.04477	B	.	.	0.279888	0.06568	3.057	0.93009102608997329	0.22602	0.00521	0.02426	N	AEFBI	0.048088	0.08168	N	-0.597903229264886	0.19008	0.9914769	-0.694328801690222	0.17101	0.9078342	0.999716154845064	0.42101	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.69	1.8	0.24069	0.087000	0.14801	-0.625000	0.08154	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.5211:0.1515:0.3274	4.646	0.11956	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1191.98	34	chr9	68537285	.	C	T	1191.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.710e-01;DP=795;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=0.299;SOR=0.670	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1345	20	0	1	0
chr9	68780918	68780918	G	A	exonic	FAM122A	.	nonsynonymous SNV	FAM122A:NM_138333:exon1:c.G754A:p.G252R,	.	.	423	1088	11	0	0	11	0.00502972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.854	P	0.000	D	1.000	D	2.045	M	0.35	T	-0.546	T	0.265	T	0.662	3.671	18.66	4.42	2.758	6.241	12.838	0.246	0.0277429215411	0.0005	0.000399361	0.0011	0	0.0004	0	0.0002	0.0011	0.0011	0.0031	0.0009767	151	154602	rs200554338	0.0007	0.0007	0.0006	0.0008	0.0030	0.0006	0.0006	0.0027	0.0026	2.987e-05	0.0006	0.0056	0	7.488e-05	0.0029	0.0004	0.0009	0.0030	0.0004	0.0004	0.0004	0.0005	0.0012	0.0003	0.0003	0.0005	0.0004	0	0	0.0003	0.0046	0	0	0.0034	0.0005	0.0014	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	0.000040	0.55875	D	0.161453	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	-0.5457	0.66949	T	0.265	0.63652	T	10	0.010119289	0.00226	T	0.027743	0.50513	D	0.246	0.55340	.	.	0.253981072376	0.25009	0.36986581751897574	0.36900	1.80813242872	0.91769	0.648295760155	0.59744	T	.	.	.	-0.218111	0.18252	T	-0.0891288	0.64227	T	0.0561491323691788	0.06549	T	0.926707	0.72990	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.137794	0.86009	28.8	0.99872591447364489	0.94989	0.86635	0.45957	D	AEFDGBCI	0.766183	0.70244	D	0.695315502889757	0.79327	7.054033	0.663129149016029	0.79592	7.114998	0.999999999355692	0.74766	0.627647	0.40530	0	0.685571	0.66316	0	0.672317	0.60874	0	0.638787	0.57140	0	.	.	4.42	4.42	0.52775	6.927000	0.75657	11.766000	0.95743	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	12.838	0.57171	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2490.98	38	chr9	68780918	.	G	A	2490.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.93;DP=920;ExcessHet=0.0000;FS=2.638;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.32;ReadPosRankSum=-1.645e+00;SOR=0.516	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1070	20	0	1	0
chr9	69221397	69221397	C	T	exonic	TJP2	.	nonsynonymous SNV	TJP2:NM_001170415:exon5:c.C865T:p.R289C	Cholestasis, progressive familial intrahepatic 4, Autosomal recessive;Hypercholanemia, familial	.	1	1516	5	0	0	5	0.00164636	.	.	1299368	TJP2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.996	D	0.648	P	0.034	N	1.000	D	1.67	L	0.71	T	-0.871	T	0.171	T	0.36	2.700	14.99	4.46	1.217	0.889	13.726	0.111	0.0492869631799	.	0.000199681	0.0010	0	0.0008	0	0	0	0	0.0036	0.0002781	43	154602	rs546327568	0.0002	0.0002	7.906e-05	0.0003	0.0032	0.0002	0.0002	0.0029	0.0028	0	0	0	0	0	0.0003	1.825e-05	3.387e-05	0.0032	0.0002	0.0002	3.854e-05	0.0003	0.0050	0.0001	9.232e-05	0.0034	0.0029	0	0	0	0	0	0	0	0	0	0.0050	0.006	0.63226	D	0.015	0.63918	D	0.978	0.67487	D	0.328	0.44752	B	0.033622	0.24874	N	0.419924	0.996651	0.47544	D	2.33	0.66821	M	0.71	0.51228	T	-2.06	0.49352	N	0.429	0.47022	-0.8709	0.50462	T	0.171	0.51309	T	9	0.009921193	0.00222	T	0.049287	0.63745	D	0.111	0.31313	0.428	0.47515	0.516827169674	0.51324	0.5180665781593101	0.51729	0.707521477016	0.61494	0.373469024897	0.21328	T	0.53838	0.84149	D	-0.38429	0.02927	T	-0.327518	0.41745	T	0.180432469399519	0.19262	T	0.933707	0.75281	D	0.18292132	0.39534	0.09652833	0.22940	0.18292132	0.39534	0.09652833	0.22939	-9.781	0.72589	D	0.1818717878021076	0.23472	0.219	0.46179	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.758721	0.53924	23.4	0.99855583235637158	0.93458	0.41868	0.26752	N	AEFBI	0.332887	0.43215	N	-0.0174183595923497	0.41068	2.449875	-0.0861671124257176	0.35961	2.086864	0.97245913830237	0.29372	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.38	4.46	0.53567	3.591000	0.53733	2.571000	0.33365	0.587000	0.30956	0.945000	0.32849	0.997000	0.33255	0.064000	0.16252	0.28:0.72:0.0:0.0	13.726	0.62243	988	0.01987	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1024.98	36	chr9	69221397	.	C	T	1024.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.630e-01;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.31;ReadPosRankSum=-8.170e-01;SOR=0.794	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1144	20	0	1	0
chr9	69391730	69391730	G	A	exonic	FAM189A2	.	nonsynonymous SNV	FAM189A2:NM_001127608:exon11:c.G1279A:p.E427K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.01	B	0.003	B	0.171	N	1.000	N	1.7	L	4.13	T	-1.026	T	0.065	T	0.244	-0.326	2.454	1.48	0.009	0.649	11.169	0.027	0.00512538786742	.	.	1.747e-05	0	0	0	0	1.591e-05	0	6.233e-05	1.94e-05	3	154602	rs770475612	1.642e-05	1.71e-05	1.089e-05	2.2e-05	6.958e-05	1.111e-05	9.34e-06	2.996e-05	2.038e-05	0	0	0	2.519e-05	0	0	1.439e-05	1.656e-05	6.958e-05	3.943e-05	3.94e-05	6.424e-05	1.345e-05	5.88e-05	1.716e-05	1.13e-05	1.972e-05	1.124e-05	4.825e-05	0	0	0	0	0	0	5.88e-05	0	0	0.226	0.18562	T	0.256	0.23298	T	0.01	0.15535	B	0.003	0.08700	B	0.171257	0.17368	N	0.556583	0.999997	0.08975	N	1.59	0.40313	L	4.13	0.02865	T	-0.86	0.23372	N	0.067	0.03956	-1.0265	0.21593	T	0.065	0.27017	T	10	0.07548091	0.11670	T	0.005125	0.13001	T	0.027	0.05988	.	.	0.269558022972	0.26553	0.35388343034154945	0.35302	0.206080854031	0.23033	0.489144980907	0.37320	T	0.018894	0.15149	T	-0.338241	0.05511	T	-0.540869	0.18211	T	0.0143198556460104	0.00286	T	0.624238	0.24084	T	0.041914456	0.06261	0.07200125	0.15482	0.041914456	0.06261	0.07200125	0.15482	-4.472	0.30520	T	.	.	0.087	0.20972	B	.;.;.	.;.;.	0.890165	0.12634	9.161	0.81628798796902968	0.13780	0.19520	0.20692	N	AEFBI	0.060645	0.11540	N	-0.999550763339175	0.08613	0.4045286	-1.00609567301719	0.09651	0.4813675	0.788275092201281	0.23969	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.53	1.48	0.21900	0.578000	0.23476	1.385000	0.26067	-0.790000	0.03253	0.135000	0.23427	0.942000	0.28804	0.018000	0.11154	0.0656:0.3617:0.5728:0.0	11.169	0.47784	988	0.01987	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	930.98	35	chr9	69391730	.	G	A	930.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=785;ExcessHet=0.0000;FS=6.541;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.58;ReadPosRankSum=0.749;SOR=1.569	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1230	20	0	1	0
chr9	69723377	69723377	C	G	exonic	PTAR1	.	nonsynonymous SNV	PTAR1:NM_001366935:exon4:c.G659C:p.S220T	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.0	B	0.003	B	0.001	N	1.000	D	1.265	L	1.03	T	-1.072	T	0.079	T	0.323	-0.297	2.584	1.93	0.083	2.732	12.459	0.072	0.00459449680339	0.0008	.	0.0010	0.0001	8.664e-05	0	0.0054	0.0011	0.0011	0.0002	0.0008538	132	154602	rs199760631	0.0009	0.0009	0.0010	0.0009	0.0009	0.0009	0.0009	0.0009	0.0008	2.988e-05	0.0002	0.0006	0	0.0054	0.0005	0.0009	0.0006	0.0002	0.0011	0.0011	0.0009	0.0013	0.0012	0.0010	0.0009	0.0010	0.0009	0.0001	0	0	0.0003	0	0.0071	0	0.0012	0	0.0004	0.388	0.10909	T	0.978	0.03324	T	0.0	0.02946	B	0.003	0.08700	B	0.001427	0.39044	N	0.336404	0.997633	0.22576	N	1.79	0.46772	L	1.03	0.40469	T	0.04	0.12283	N	0.16	0.16725	-1.0721	0.08957	T	0.079	0.31375	T	10	0.005623251	0.00125	T	0.004594	0.11346	T	0.072	0.21020	.	.	0.151262610727	0.14761	0.21127025316366796	0.21043	0.281412569002	0.30616	0.375675022602	0.21643	T	0.004695	0.04103	T	-0.456923	0.01027	T	-0.436378	0.29215	T	0.0225865830656544	0.00975	T	0.659534	0.28093	T	0.20917574	0.43177	0.07295185	0.15797	0.20917574	0.43176	0.07295185	0.15796	-6.16	0.47598	T	.	.	0.073	0.06024	B	.;.	.;.	2.293838	0.29342	18.09	0.29174978287112124	0.01534	0.93831	0.59316	D	AEFGBI	0.305726	0.41307	N	-0.336466457699889	0.27772	1.526456	-0.183150430152978	0.32154	1.826603	0.442749595066025	0.20467	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.99	1.93	0.24985	2.793000	0.47537	1.264000	0.25249	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.4127:0.5223:0.065	12.459	0.55057	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1268.98	36	chr9	69723377	.	C	G	1268.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.284e+00;DP=808;ExcessHet=0.0000;FS=0.802;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=-1.465e+00;SOR=0.561	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1278	20	0	1	0
chr9	70318794	70318794	G	A	exonic	SMC5	.	nonsynonymous SNV	SMC5:NM_015110:exon15:c.G1981A:p.E661K,	.	.	.	.	.	.	.	.	.	0.9618	0.744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.97	D	0.659	P	0.015	N	1.000	D	1.76	L	2.05	T	-1.145	T	0.078	T	0.367	1.869	12.21	5.33	2.503	3.086	14.373	0.083	0.0152408655847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.089	0.40426	T	0.97	0.56973	D	0.659	0.52771	P	0.014696	0.28458	N	0.394533	1	0.81001	D	2.39	0.68882	M	2.05	0.20664	T	-1.95	0.45222	N	0.194	0.21319	-1.1446	0.01195	T	0.078	0.31133	T	9	0.2608875	0.43542	T	0.015241	0.35857	T	0.083	0.24192	0.473	0.54859	0.193917141947	0.19028	0.37411358949642437	0.37325	0.244403056809	0.26944	0.432915270329	0.29607	T	0.242975	0.61182	T	-0.109679	0.34820	T	-0.395323	0.33928	T	0.79546445608139	0.46049	D	0.892111	0.62800	D	0.19477879	0.41240	0.21387163	0.45915	0.19477879	0.41240	0.21387163	0.45914	-7.362	0.56636	T	.	.	0.210	0.43788	B	.	.	4.188314	0.63110	24.5	0.99743334664487826	0.83703	0.93473	0.58312	D	AEFGBI	0.496108	0.53120	N	0.435976464689098	0.63411	4.574445	0.419900382829896	0.62805	4.502373	0.812528904911758	0.24381	0.475973	0.10046	0	0.546412	0.12157	0	0.670488	0.60580	0	0.491896	0.07777	0	.	.	5.33	5.33	0.75683	5.123000	0.64543	9.874000	0.82149	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.482000	0.28611	0.0735:0.0:0.9265:0.0	14.373	0.66416	988	0.01987	RecF/RecN/SMC, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	154.98	34	chr9	70318794	.	G	A	154.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.699;DP=665;ExcessHet=0.0000;FS=1.893;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.46;ReadPosRankSum=0.699;SOR=0.287	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr9	70413085	70413085	C	T	exonic	KLF9	.	nonsynonymous SNV	KLF9:NM_001206:exon1:c.G279A:p.M93I,	.	.	430	1078	14	0	0	14	0.00645161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.0	B	0.0	B	0.080	N	0.997	N	0	N	3.65	T	-0.934	T	0.008	T	0.118	1.190	9.838	2.98	0.456	0.188	9.299	0.074	0.00311411323187	0.0005	0.000199681	0.0008	9.612e-05	0.0003	0	0	0.0008	0.0022	0.0018	0.0006792	105	154602	rs138055699	0.0005	0.0005	0.0004	0.0006	0.0149	0.0005	0.0005	0.0124	0.0114	0.0007	0.0004	0.0018	2.519e-05	0	0.0149	0.0003	0.0010	0.0020	0.0004	0.0004	0.0004	0.0004	0.0017	0.0003	0.0003	0.0008	0.0006	2.406e-05	0	0.0003	0.0029	0.0002	0	0.0204	0.0004	0.0005	0.0017	0.413	0.10052	T	0.395	0.15255	T	0.0	0.02946	B	0.0	0.01387	B	0.080144	0.20942	N	0.462132	0.997449	0.22656	N	1.04	0.26193	L	3.65	0.04267	T	-0.17	0.09627	N	0.035	0.01004	-0.9339	0.43560	T	0.008	0.02926	T	10	0.0052796006	0.00115	T	0.003114	0.06756	T	0.074	0.21613	0.201	0.11522	0.2338531098	0.23012	0.12663587151217223	0.12589	1.27576325961	0.82405	0.465395092964	0.34049	T	0.102808	0.41088	T	-0.650903	0.00072	T	-0.714538	0.05064	T	0.00682175009797909	0.00077	T	0.615039	0.23503	T	0.07083613	0.15635	0.08946862	0.20923	0.07083613	0.15634	0.08946862	0.20922	-3.032	0.10530	T	.	.	0.289	0.52127	B	.	.	2.239457	0.28593	17.85	0.94540981630195542	0.25049	0.65133	0.32636	D	ALL	0.180348	0.30765	N	-0.591363861453918	0.19205	1.003353	-0.434951774828082	0.23979	1.310577	0.999999997959888	0.74766	0.56387	0.32371	0	0.218748	0.04544	0	0.503968	0.08637	0	0.56214	0.19341	0	.	.	4.85	2.98	0.33575	-0.041000	0.12036	1.505000	0.26983	0.599000	0.40250	0.016000	0.19238	1.000000	0.68203	1.000000	0.97212	0.0:0.8183:0.0:0.1817	9.299	0.36997	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2701.98	34	chr9	70413085	.	C	T	2701.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=893;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.44;ReadPosRankSum=-1.469e+00;SOR=0.707	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1385	20	0	1	0
chr9	70549555	70549555	C	A	exonic	TRPM3	.	nonsynonymous SNV	TRPM3:NM_001366150:exon23:c.G3628T:p.V1210L	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.984	D	0.891	P	0.000	D	1.000	D	1.995	M	1.03	T	-0.881	T	0.235	T	0.732	4.012	20.6	6.16	2.937	5.763	20.860	0.251	0.0206056193591	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	2.724e-06	1.376e-06	0.0005	5.5e-07	1.5e-07	0.0001	7.546e-05	0	0	0	0	0	0.0005	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.44358	T	0.126	0.44702	T	0.307	0.60733	B	0.144	0.61279	B	0.000000	0.84330	D	0.000000	0.999992	0.58761	D	.	.	.	1.03	0.40469	T	-1.74	0.46146	N	0.729	0.80964	-0.8810	0.49681	T	0.235	0.60234	T	10	0.43052292	0.57459	T	0.020606	0.43239	T	0.251	0.56024	0.173	0.07894	0.590168613009	0.58692	0.4454560034315215	0.44463	0.21243972254	0.23743	0.876385807991	0.93468	D	0.088681	0.38296	T	0.0497215	0.58308	T	-0.166355	0.57776	T	0.973144888877869	0.69977	D	0.942906	0.81867	D	.	.	.	.	.	.	.	.	-10.659	0.81896	D	.	.	0.696	0.78324	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.476000	0.69796	25.4	0.9912138423354192	0.53011	0.98465	0.83062	D	AEFI	0.864286	0.78305	D	0.42935704020455	0.63042	4.530665	0.548929510679988	0.71323	5.63731	0.999999999999982	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	6.16	6.16	0.99302	5.838000	0.69097	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.860	0.99763	.	.	.;.;TRPM, tetramerisation domain;TRPM, tetramerisation domain;TRPM, tetramerisation domain;TRPM, tetramerisation domain;TRPM, tetramerisation domain;TRPM, tetramerisation domain;TRPM, tetramerisation domain;TRPM, tetramerisation domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1040.98	34	chr9	70549555	.	C	A	1040.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.710e-01;DP=803;ExcessHet=0.0000;FS=6.671;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.19;ReadPosRankSum=1.13;SOR=0.627	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1207	20	0	1	0
chr9	71690188	71690188	G	A	exonic	CEMIP2	.	nonsynonymous SNV	CEMIP2:NM_001135820:exon21:c.C3566T:p.P1189L	.	.	.	.	.	.	.	.	.	.	.	3300086	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.021	B	0.007	B	0.000	D	0.999	D	0	N	2.59	T	-0.838	T	0.202	T	0.286	3.062	16.22	5.98	2.835	6.652	20.458	0.243	0.0223972726257	.	0.000199681	9.892e-05	0	0	0	0	0	0	0.0007	9.06e-05	14	154602	rs571284402	5.199e-05	5.199e-05	4.764e-05	5.638e-05	0.0007	4.258e-05	3.888e-05	0.0005	0.0005	2.987e-05	0	0	5.038e-05	0	0	7.194e-06	0.0001	0.0007	3.283e-05	3.281e-05	2.57e-05	4.029e-05	0.0008	1.26e-05	7.98e-06	0.0003	0.0002	2.406e-05	0	0	0	0	0	0	0	0	0.0008	0.01	0.68238	D	0.006	0.70582	D	0.021	0.18474	B	0.007	0.12992	B	0.000000	0.84330	D	0.045471	0.999471	0.47197	D	.	.	.	-0.65	0.72237	T	-0.31	0.12661	N	0.304	0.38335	-0.8375	0.52812	T	0.202	0.55850	T	10	0.19983315	0.36007	T	0.022397	0.45285	T	0.243	0.54921	0.855	0.95491	0.674124572524	0.67136	0.7962754336891227	0.79580	0.17722387353	0.19938	0.427529454231	0.28871	T	0.009055	0.08447	T	-0.294628	0.09177	T	-0.277773	0.47033	T	0.202747191670801	0.20567	T	0.846215	0.54490	T	0.1332169	0.30993	0.11662619	0.28154	0.1332169	0.30993	0.11662619	0.28153	-3.42	0.15327	T	.	.	0.176	0.43503	B	.;.;.	.;.;.	3.655007	0.51893	23.2	0.99738957700228248	0.83337	0.95040	0.63219	D	AEFDGBHCI	0.582185	0.58190	D	-0.0253866014958058	0.40707	2.422192	0.201961342479043	0.49956	3.192836	0.99999999999999	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.98	5.98	0.97147	7.136000	0.76885	11.810000	0.96908	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.374000	0.26200	0.0:0.0:1.0:0.0	20.458	0.99157	871	0.31377	ILEI/PANDER domain;.;ILEI/PANDER domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	663.98	34	chr9	71690188	.	G	A	663.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.392e+00;DP=787;ExcessHet=0.0000;FS=0.909;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.10;ReadPosRankSum=1.17;SOR=0.522	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	20	0	1	0
chr9	72740135	72740135	G	A	exonic	TMC1	.	nonsynonymous SNV	TMC1:NM_138691:exon9:c.G379A:p.V127M,	Deafness, autosomal dominant 36, Autosomal dominant;Deafness, autosomal recessive 7, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1860427	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.999	D	0.985	D	0.000	D	0.999	D	2.235	M	2.36	T	-1.032	T	0.119	T	0.617	3.767	19.13	5.62	2.639	5.421	15.169	0.186	0.00642332147189	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1417764398	2.737e-06	2.736e-06	4.085e-06	1.376e-06	0.0005	6.4e-07	4.3e-07	0.0001	7.55e-05	0	0	0	0	0	0.0005	8.995e-07	0	0	1.315e-05	1.313e-05	2.57e-05	0	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.999032	0.45921	D	3.34	0.90961	M	2.36	0.16089	T	-2.68	0.57275	D	0.447	0.48504	-1.0323	0.19713	T	0.119	0.41756	T	10	0.36838552	0.53282	T	0.006423	0.16899	T	0.186	0.46104	0.345	0.33950	0.510054698054	0.50647	0.5918072866013646	0.59110	0.643341671489	0.57872	0.714185118675	0.69200	T	0.630677	0.88550	D	-0.0217689	0.48602	T	-0.269046	0.47917	T	0.990163207054138	0.80380	D	0.838216	0.51127	T	0.54283893	0.69555	0.54629374	0.73773	0.54283893	0.69556	0.54629374	0.73773	-6.303	0.48746	T	.	.	0.727	0.79122	P	.;.;.;.	.;.;.;.	5.004819	0.83070	27.9	0.99889401076523376	0.96359	0.89930	0.50723	D	AEFI	0.593366	0.58872	D	0.789633437852169	0.85453	8.580426	0.772967513104591	0.87860	9.370187	0.997097501755485	0.35269	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.62	5.62	0.85714	4.856000	0.62632	11.624000	0.93645	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	15.169	0.72532	576	0.70006	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	646.98	34	chr9	72740135	.	G	A	646.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=789;ExcessHet=0.0000;FS=0.893;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.89;ReadPosRankSum=-1.180e-01;SOR=0.531	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr9	73165203	73165203	C	T	exonic	ANXA1	.	nonsynonymous SNV	ANXA1:NM_000700:exon9:c.C700T:p.R234C,	.	.	.	.	.	.	.	.	.	.	.	3278789	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.179	B	0.049	B	0.000	D	1.000	D	2.89	M	3.78	T	-1.148	T	0.033	T	0.784	3.267	16.96	6.17	2.941	3.747	19.868	0.301	0.0289736476121	7.7e-05	.	2.517e-05	9.711e-05	0	0	0	3.056e-05	0	0	1.94e-05	3	154602	rs138602190	6.851e-06	8.209e-06	6.817e-06	6.886e-06	5.992e-05	3.47e-06	2.53e-06	9.92e-06	3.71e-06	5.992e-05	4.487e-05	0	0	0	0	4.503e-06	0	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.119	0.36101	T	0.179	0.28995	B	0.049	0.25116	B	0.000000	0.84330	D	0.048809	1	0.81001	D	3	0.85872	M	3.78	0.03836	T	-4.79	0.80595	D	0.75	0.74918	-1.1480	0.01086	T	0.033	0.14334	T	10	0.6742289	0.70894	D	0.028974	0.51567	D	0.301	0.62179	.	.	0.578877614382	0.57557	0.6942595277587286	0.69366	0.0900235829722	0.10153	0.507938444614	0.39933	T	0.409122	0.76425	T	-0.0605608	0.42820	T	-0.142621	0.59892	T	0.685461163520813	0.40038	D	0.887511	0.61533	D	0.48042077	0.65926	0.38951135	0.63769	0.48042077	0.65927	0.38951135	0.63769	-7.096	0.54732	T	.	.	0.216	0.44745	B	.;.	.;.	4.051815	0.60059	24.2	0.99693340343981518	0.80112	0.98258	0.81007	D	AEFGBHCI	0.861557	0.77965	D	0.354351334918449	0.58969	4.072707	0.477890156810486	0.66527	4.963772	0.999999999517461	0.74766	0.67177	0.52595	0	0.670034	0.63936	0	0.653264	0.51672	0	0.711	0.71501	0	.	.	6.17	6.17	0.99707	3.665000	0.54270	4.843000	0.45303	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	19.868	0.96822	660	0.61921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2387.98	34	chr9	73165203	.	C	T	2387.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.60;DP=867;ExcessHet=0.0000;FS=3.402;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.98;MQRankSum=-9.470e-01;QD=12.84;ReadPosRankSum=0.963;SOR=0.476	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1123	20	0	1	0
chr9	74747900	74747900	A	G	exonic	TRPM6	.	nonsynonymous SNV	TRPM6:NM_001177310:exon31:c.T5057C:p.I1686T	Hypomagnesemia 1, intestinal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.183	B	0.107	B	.	.	1.000	D	-0.55	N	0.77	T	-1.103	T	0.045	T	0.047	0.743	7.944	-0.879	-0.322	-0.298	4.765	0.034	0.0231058990097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.056e-06	2.736e-06	1.364e-06	2.756e-06	2.528e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	2.528e-05	0	0	1.801e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.25873	T	0.562	0.09083	T	0.002	0.09854	B	0.006	0.12133	B	.	.	.	.	1	0.81001	D	0.55	0.14455	N	0.77	0.49642	T	0.72	0.02099	N	0.042	0.01498	-1.1027	0.03779	T	0.045	0.19397	T	9	0.025411487	0.00736	T	0.023106	0.46051	T	0.034	0.08419	0.2	0.11384	0.043077524339	0.03247	0.18401752744216007	0.18320	0.312276279515	0.33530	0.235256046057	0.02379	T	0.105474	0.41598	T	-0.325454	0.06461	T	-0.705268	0.05542	T	0.0321650489754837	0.02332	T	0.142786	0.01162	T	0.035530113	0.04199	0.05522946	0.09647	0.035530113	0.04199	0.05522946	0.09646	-3.179	0.12226	T	.	.	0.050	0.00168	B	.;.;.	.;.;.	0.529861	0.08986	5.767	0.70621821584927424	0.09356	0.09335	0.15112	N	AEFI	0.134100	0.25399	N	-1.02233836326027	0.08141	0.3807035	-0.891123775876019	0.12304	0.6321162	0.0742376348595993	0.15659	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.48	-0.879	0.10076	-0.297000	0.08312	-0.261000	0.10426	-0.163000	0.11536	0.023000	0.19925	0.344000	0.24438	0.995000	0.73285	0.129:0.2841:0.0:0.5869	4.765	0.12500	844	0.36711	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	316.98	34	chr9	74747900	.	A	G	316.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.252e+00;DP=742;ExcessHet=0.0000;FS=1.150;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.04;ReadPosRankSum=0.962;SOR=0.507	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1087	20	0	1	0
chr9	74752287	74752287	T	C	exonic	TRPM6	.	nonsynonymous SNV	TRPM6:NM_001177310:exon29:c.A4973G:p.Q1658R	Hypomagnesemia 1, intestinal, Autosomal recessive	.	103	1407	12	0	0	12	0.00424628	.	.	215404	not_specified|not_provided|Intestinal_hypomagnesemia_1	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011176,MedGen:C1865974,OMIM:602014,Orphanet:30924	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.981	D	0.73	P	0.055	N	1.000	D	2.045	M	0.65	T	-0.768	T	0.173	T	0.055	3.578	18.23	3.53	0.488	1.435	10.050	0.112	.	0.0075	0.00279553	0.0077	0.0017	0.0092	0	0.0049	0.0118	0.0090	0.0027	0.005899	912	154602	rs55679040	0.0082	0.0084	0.0084	0.0081	0.0203	0.0081	0.0081	0.0173	0.0162	0.0016	0.0071	0.0038	2.532e-05	0.0038	0.0203	0.0096	0.0075	0.0019	0.0063	0.0063	0.0068	0.0058	0.0106	0.0060	0.0058	0.0100	0.0097	0.0021	0.0011	0.0061	0.0023	0	0.0026	0.0034	0.0106	0.0061	0.0017	0.003	0.68238	D	0.093	0.40110	T	0.634	0.40281	P	0.215	0.37512	B	0.054606	0.22711	N	0.472549	1	0.81001	D	2.615	0.76484	M	0.65	0.52642	T	-0.73	0.20576	N	0.156	0.16168	-0.7677	0.56984	T	0.173	0.51579	T	10	0.0042348206	0.00085	T	.	.	.	0.112	0.31546	.	.	0.339940258815	0.33601	0.2812455614234545	0.28037	0.272700917189	0.29773	0.276541292667	0.07015	T	0.149518	0.48855	T	-0.548594	0.00297	T	-0.546514	0.17662	T	0.0285568991036483	0.01769	T	0.618838	0.23746	T	0.09255063	0.21715	0.14296204	0.33993	0.10007534	0.23626	0.14904581	0.35207	-3.335	0.14193	T	.	.	0.076	0.08368	B	.;.;.	.;.;.	1.537769	0.19722	14.41	0.99786898787720635	0.87308	0.77272	0.37974	D	AEFI	0.148552	0.27246	N	0.108094422850283	0.46841	2.918315	0.133487078150113	0.46271	2.875956	0.98417431804812	0.30676	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.84	3.53	0.39533	1.432000	0.34545	-0.498000	0.08819	0.665000	0.62972	0.940000	0.32642	0.000000	0.08366	0.983000	0.59808	0.0:0.1353:0.0:0.8647	10.050	0.41381	838	0.37812	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1396.98	34	chr9	74752287	.	T	C	1396.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.639;DP=830;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=1.67;SOR=0.636	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1095	20	0	1	0
chr9	74948151	74948151	G	A	exonic	C9orf40	.	nonsynonymous SNV	C9orf40:NM_017998:exon2:c.C482T:p.P161L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	1.955	M	.	.	-0.228	T	0.408	T	0.868	4.224	22.0	5.87	2.781	5.111	15.708	0.334	0.00803406325172	.	.	0.0001	0	0	0	0	0	0	0.0010	0.00011	17	154602	rs764625310	6.571e-05	6.635e-05	2.861e-05	0.0001	0.0010	5.498e-05	5.11e-05	0.0009	0.0008	2.989e-05	0	0	0	0	0	0	8.283e-05	0.0010	7.235e-05	7.226e-05	1.285e-05	0.0001	0.0021	3.975e-05	3.13e-05	0.0011	0.0009	2.416e-05	0	0	0	0	0	0	0	0	0.0021	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000236	0.47286	D	0.000000	0.999946	0.51968	D	2.19	0.61577	M	.	.	.	-8.23	0.96869	D	0.821	0.81658	-0.2284	0.76929	T	0.408	0.75755	T	9	0.32650846	0.49947	T	0.008034	0.21290	T	0.334	0.65620	0.462	0.53079	0.413241256734	0.40943	0.26438188312451444	0.26351	1.98220839654	0.93655	.	.	.	0.117964	0.43844	T	0.0813834	0.62203	D	0.303592	0.88363	D	0.683491885662079	0.39947	D	0.717928	0.33070	T	0.7530308	0.81044	0.73169833	0.84145	0.7530308	0.81046	0.73169833	0.84146	-8.062	0.61492	D	.	.	0.711	0.73426	P	.	.	4.561812	0.71894	25.7	0.99872769408256701	0.94989	0.92284	0.55358	D	AEFBI	0.527684	0.54952	D	0.781600408412108	0.84942	8.430836	0.77674279326839	0.88133	9.469552	0.999999996836975	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.87	5.87	0.94266	5.629000	0.67473	9.689000	0.81268	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.904000	0.43992	0.0:0.0:1.0:0.0	15.708	0.77363	773	0.48803	Putative WW-binding domain and destruction box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	884.98	35	chr9	74948151	.	G	A	884.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.376;DP=752;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=0.956;SOR=0.618	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1096	20	0	1	0
chr9	75069070	75069070	C	T	exonic	NMRK1	.	nonsynonymous SNV	NMRK1:NM_001127603:exon6:c.G350A:p.G117E	.	.	431	1069	22	0	0	22	0.0101852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	1.0	D	1.0	D	0.000	D	1.000	D	2.405	M	1.13	T	-0.734	T	0.229	T	0.938	4.416	23.4	6.17	2.941	5.458	20.490	0.456	0.030077816773	0.0061	0.00159744	0.0042	0.0012	0.0016	0	0.0015	0.0061	0.0055	0.0032	0.004269	660	154602	rs138360599	0.0061	0.0061	0.0061	0.0061	0.0097	0.0060	0.0059	0.0077	0.0069	0.0010	0.0023	0.0040	0	0.0022	0.0097	0.0070	0.0069	0.0040	0.0045	0.0045	0.0049	0.0041	0.0075	0.0042	0.0041	0.0069	0.0067	0.0012	0.0022	0.0029	0.0052	0	0.0021	0.0102	0.0075	0.0076	0.0037	0.001	0.78490	D	0.06	0.76473	T	1.0	0.90584	D	1.0	0.97372	D	0.000005	0.62929	D	0.107803	1	0.81001	D	2.54	0.74080	M	1.13	0.38556	T	-7.31	0.94511	D	0.732	0.73285	-0.7335	0.58786	T	0.229	0.59459	T	10	0.01495254	0.00314	T	0.030078	0.52463	D	0.456	0.75483	.	.	0.414930877219	0.41105	0.8017082720373113	0.80124	0.259490706141	0.28504	0.680653333664	0.64362	T	0.161511	0.50580	T	-0.0665978	0.41870	T	0.135286	0.79237	D	0.0393469087500047	0.03572	T	0.989734	0.99133	D	0.85081905	0.87396	0.9221031	0.96546	0.85081905	0.87398	0.9221031	0.96546	-10.627	0.77573	D	.	.	0.371	0.60836	A	.;.;.	.;.;.	4.310916	0.65896	24.9	0.99742598808316485	0.83629	0.97525	0.75317	D	AEFBI	0.768756	0.70422	D	0.762460908308169	0.83715	8.090229	0.735719478295199	0.85086	8.47697	0.999999999994957	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	4.569000	0.60579	5.929000	0.51288	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.337000	0.25363	0.0:1.0:0.0:0.0	20.490	0.99205	727	0.54702	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	455.98	33	chr9	75069070	.	C	T	455.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.253e+00;DP=765;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.70;ReadPosRankSum=1.23;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr9	75069074	75069074	G	T	exonic	NMRK1	.	nonsynonymous SNV	NMRK1:NM_001127603:exon6:c.C346A:p.P116T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.999	D	0.941	D	0.000	D	1.000	D	2.55	M	-0.51	T	-0.105	T	0.506	D	0.698	3.715	18.87	5.28	1.627	5.952	15.408	0.505	0.0667309363748	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482043349	2.736e-06	2.736e-06	1.361e-06	4.125e-06	3.598e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	0	0	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.006	0.70582	D	0.899	0.77913	P	0.591	0.67658	P	0.000001	0.84330	D	0.055636	1	0.81001	D	2.84	0.82582	M	-0.51	0.70597	T	-7.57	0.95246	D	0.511	0.55366	-0.1049	0.79987	T	0.506	0.81377	D	10	0.6949105	0.72082	D	0.066731	0.69961	D	0.505	0.78662	0.525	0.62967	0.730279520082	0.72788	0.6163156104067488	0.61563	0.0961356641616	0.10851	0.495432347059	0.38192	T	0.194	0.54899	T	0.158293	0.70042	D	-0.0103994	0.69658	D	0.997288584709167	0.91194	D	0.946505	0.91859	D	0.84485334	0.86958	0.72560483	0.83792	0.84485334	0.86960	0.72560483	0.83793	-9.078	0.68197	D	.	.	0.130	0.27762	B	.;.;.	.;.;.	3.988197	0.58674	24.0	0.99794963953948501	0.88017	0.98081	0.79437	D	AEFBI	0.750281	0.69145	D	0.521524990960874	0.68362	5.206991	0.4869962453324	0.67126	5.042674	0.999999486712285	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	6.17	5.28	0.74118	4.875000	0.62765	7.520000	0.59748	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.350000	0.25659	0.0669:0.0:0.9331:0.0	15.408	0.74620	727	0.54702	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	772.98	33	chr9	75069074	.	G	T	772.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.880e-01;DP=755;ExcessHet=0.0000;FS=0.929;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=0.615;SOR=0.527	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr9	76189177	76189177	T	C	exonic	PCSK5	.	nonsynonymous SNV	PCSK5:NM_001190482:exon19:c.T2464C:p.Y822H	.	.	432	1058	29	3	0	35	0.0162715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.995	D	0.000	N	1.000	D	2.49	M	1.5	T	-0.681	T	0.268	T	0.306	3.858	19.60	2.08	0.116	3.472	9.496	0.248	.	0.0002	0.00139776	0.0026	0.0004	0.0004	0	0	0.0002	0.0066	0.0177	0.0021863	338	154602	rs138949162	0.0012	0.0012	0.0006	0.0018	0.0181	0.0012	0.0012	0.0174	0.0171	8.968e-05	0.0002	0	0	0	0.0042	0.0001	0.0013	0.0181	0.0006	0.0006	0.0002	0.0009	0.0122	0.0005	0.0004	0.0097	0.0088	0.0001	0	0.0007	0	0	0	0	0.0001	0	0.0122	0.042	0.91255	D	0.09	0.74150	T	1.0	0.90584	D	0.995	0.83170	D	0.000017	0.62929	N	0.158960	0.995768	0.42845	D	1.665	0.42610	L	0.64	0.52867	T	-3.55	0.68764	D	0.34	0.40963	-0.6813	0.61312	T	0.268	0.63929	T	10	0.008988649	0.00203	T	.	.	.	0.248	0.55615	.	.	0.429435026966	0.42563	0.722959823309916	0.72239	0.111227701114	0.12544	0.479971021414	0.36052	T	0.378387	0.74137	T	-0.399413	0.02336	T	-0.331569	0.41295	T	0.0572492513179974	0.06729	T	0.756924	0.43862	T	0.23949578	0.46840	0.24015962	0.49383	0.23949578	0.46840	0.24015962	0.49382	-5.331	0.47671	T	.	.	0.107	0.40032	B	.;.;.;.	.;.;.;.	2.912691	0.38644	20.8	0.99792041021072841	0.87750	0.93957	0.59684	D	AEFBI	0.370293	0.45672	N	0.436052703106801	0.63417	4.574932	0.353987682553457	0.58749	4.047325	0.376577922199579	0.19921	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.7	2.08	0.26079	3.631000	0.54022	0.801000	0.21659	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.201:0.0:0.799	9.496	0.38156	905	0.23532	.;.;.;Growth factor receptor domain 4	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1150.11	34	chr9	76189177	.	T	C	1150.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.59;DP=786;ExcessHet=0.1072;FS=1.530;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.09;ReadPosRankSum=1.24;SOR=0.919	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,982	19	0	2	0
chr9	76332585	76332585	G	A	exonic	PCSK5	.	nonsynonymous SNV	PCSK5:NM_001190482:exon33:c.G4642A:p.E1548K	.	.	429	1086	7	0	0	7	0.00321248	.	.	3211115	PCSK5-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.67	T	.	.	.	.	0.001	D	1.000	N	0.315	N	0.05	T	-0.999	T	0.113	T	0.193	1.334	10.38	3.44	2.611	2.487	9.248	0.052	0.0313388188767	.	0.000399361	0.0051	0.0010	0.0021	0	0.0059	0.0084	0.0020	0.0003	0.0002305	6	26028	rs201074605	0.0058	0.0058	0.0060	0.0057	0.0069	0.0057	0.0057	0.0067	0.0067	0.0010	0.0019	0.0024	0	0.0049	0.0045	0.0069	0.0060	0.0003	0.0035	0.0035	0.0036	0.0034	0.0057	0.0033	0.0032	0.0052	0.0050	0.0012	0	0.0026	0.0012	0	0.0037	0.0034	0.0057	0.0066	0.0004	0.388	0.15509	T	0.5	0.11190	T	.	.	.	.	.	.	0.000706	0.42254	D	0.214324	0.825276	0.28831	N	-0.04	0.05001	N	0.05	0.61923	T	-1.26	0.32991	N	0.346	0.38746	-0.9987	0.30283	T	0.113	0.40261	T	8	0.010307997	0.00230	T	0.031339	0.53444	D	0.052	0.14661	.	.	0.666169902468	0.66336	0.38220068456914	0.38135	0.0807614276133	0.09089	0.339817643166	0.16410	T	0.069409	0.33703	T	-0.465477	0.00908	T	-0.436837	0.29164	T	0.0279908463585488	0.01687	T	0.710329	0.32115	T	0.14110303	0.32527	0.14109741	0.33612	0.14110303	0.32527	0.14109741	0.33611	-4.594	0.32096	T	.	.	0.195	0.58826	B	.;.	.;.	2.325544	0.29784	18.23	0.98805291182955957	0.46525	0.81883	0.41200	D	AEFBI	0.219720	0.34457	N	0.00046782778899284	0.41875	2.512777	0.110624297868491	0.45090	2.778516	0.00158942314143521	0.08668	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.54	3.44	0.38486	2.533000	0.45326	4.258000	0.42792	0.672000	0.70159	0.996000	0.39380	1.000000	0.68203	0.627000	0.32078	0.0892:0.1516:0.7592:0.0	9.248	0.36697	955	0.09969	EGF-like domain|Tyrosine-protein kinase ephrin type A/B receptor-like;EGF-like domain|Tyrosine-protein kinase ephrin type A/B receptor-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3141.98	37	chr9	76332585	.	G	A	3141.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=956;ExcessHet=0.0000;FS=2.094;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=0.601;SOR=0.728	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr9	76338366	76338366	C	T	exonic	PCSK5	.	nonsynonymous SNV	PCSK5:NM_001190482:exon34:c.C4804T:p.R1602C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	.	.	.	.	0.036	N	1.000	N	0.965	L	0.11	T	-0.852	T	0.171	T	0.465	0.825	8.325	5.83	2.763	0.600	9.742	0.222	0.0419291545586	.	.	1.764e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs759656241	4.109e-06	4.104e-06	1.363e-06	6.883e-06	3.479e-05	1.48e-06	9.7e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	2.699e-06	0	3.479e-05	2.628e-05	2.627e-05	2.569e-05	2.69e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.412e-05	0	0	0	0	0	0	2.939e-05	0	0.0002	0.096	0.37750	T	0.062	0.45530	T	.	.	.	.	.	.	0.036340	0.24535	N	0.452593	1	0.08975	N	2.265	0.64440	M	0.11	0.61208	T	-2.27	0.52938	N	0.507	0.53884	-0.8521	0.51823	T	0.171	0.51261	T	8	0.18251243	0.33534	T	0.041929	0.60190	D	0.222	0.51872	0.517	0.61763	0.459995458672	0.45626	0.5285158325445515	0.52775	0.214031236135	0.23940	0.313098400831	0.12376	T	0.096496	0.39836	T	-0.187374	0.22644	T	-0.324779	0.42047	T	0.249160177608324	0.22835	T	0.828317	0.49240	T	0.09030722	0.21128	0.056013916	0.09932	0.09030722	0.21127	0.056013916	0.09931	-7.97	0.60865	D	.	.	0.261	0.52833	B	.;.	.;.	2.126406	0.27073	17.34	0.97980622811077311	0.37327	0.07014	0.13040	N	AEFI	0.141466	0.26364	N	-0.225004519924847	0.32111	1.807443	-0.263966932320623	0.29295	1.640089	0.705712815880478	0.22756	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.83	5.83	0.93059	0.673000	0.24883	2.640000	0.33748	0.596000	0.33519	0.005000	0.17040	0.032000	0.21310	0.003000	0.05239	0.2432:0.6277:0.1291:0.0	9.742	0.39589	956	0.09877	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1577.98	40	chr9	76338366	.	C	T	1577.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.430e-01;DP=835;ExcessHet=0.0000;FS=0.636;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=-7.030e-01;SOR=0.811	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1337	20	0	1	0
chr9	76503484	76503484	C	T	exonic	GCNT1	.	nonsynonymous SNV	GCNT1:NM_001097636:exon2:c.C1103T:p.P368L	.	.	424	1085	13	0	0	13	0.00595511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.000	D	1.000	D	2.61	M	2.8	T	-1.042	T	0.072	T	0.177	2.600	14.65	5.28	1.635	2.020	15.552	0.229	.	0.0073	0.00199681	0.0059	0.0010	0.0020	0.0001	0.0029	0.0092	0.0110	0.0021	0.0057567	890	154602	rs147866228	0.0069	0.0069	0.0070	0.0068	0.0080	0.0068	0.0068	0.0079	0.0078	0.0012	0.0035	0.0101	0	0.0028	0.0075	0.0080	0.0064	0.0021	0.0049	0.0049	0.0054	0.0044	0.0081	0.0046	0.0045	0.0076	0.0073	0.0013	0	0.0040	0.0089	0	0.0019	0.0136	0.0081	0.0061	0.0017	0.009	0.57480	D	0.015	0.61642	D	1.0	0.90584	D	1.0	0.97372	D	0.000111	0.50451	D	0.179527	0.999996	0.58761	D	1.35	0.33515	L	2.8	0.11082	T	-3.66	0.70067	D	0.166	0.17828	-1.0415	0.16860	T	0.072	0.29227	T	9	0.009855479	0.00221	T	.	.	.	0.229	0.52916	.	.	0.354822389136	0.35094	0.6752166521111422	0.67459	0.688631019268	0.60446	0.558451235294	0.47049	T	0.165156	0.51089	T	-0.544482	0.00315	T	-0.544499	0.17857	T	0.0428290333591417	0.04207	T	0.910209	0.68156	D	0.11751566	0.27703	0.14330883	0.34063	0.11751566	0.27703	0.14330883	0.34062	-7.86	0.60112	D	.	.	0.156	0.35204	B	.;.;.	.;.;.	3.105211	0.41865	21.4	0.99846545302526746	0.92663	0.74851	0.36627	D	AEFGBI	0.347501	0.44195	N	0.380760817566918	0.60379	4.226286	0.271945140830324	0.53906	3.557584	0.999999963363176	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	5.28	0.74118	2.651000	0.46338	3.337000	0.37675	0.599000	0.40250	0.938000	0.32564	0.998000	0.33993	0.102000	0.18378	0.0:0.9345:0.0:0.0655	15.552	0.75896	872	0.31118	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3044.98	34	chr9	76503484	.	C	T	3044.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.976;DP=977;ExcessHet=0.0000;FS=0.477;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=-1.071e+00;SOR=0.738	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr9	76705907	76705907	C	T	exonic	PRUNE2	.	nonsynonymous SNV	PRUNE2:NM_001308047:exon8:c.G6367A:p.A2123T	.	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.024	B	0.007	B	0.208	N	1.000	N	1.355	L	0.93	T	-1.054	T	0.036	T	0.25	0.941	8.837	1.78	0.423	0.052	6.613	0.030	.	0.0048	0.00858626	0.0019	0.0221	0.0013	0	0	3.019e-05	0	0	0.0018564	287	154602	rs114944586	0.0006	0.0006	0.0007	0.0005	0.0208	0.0006	0.0006	0.0195	0.0190	0.0208	0.0012	0	2.519e-05	0	0.0010	9.893e-06	0.0019	4.637e-05	0.0057	0.0057	0.0059	0.0055	0.0200	0.0054	0.0053	0.0189	0.0185	0.0200	0	0.0019	0	0	0	0	4.41e-05	0.0019	0.0004	0.271	0.15984	T	0.567	0.09113	T	0.024	0.19075	B	0.007	0.12992	B	0.207718	0.16442	N	0.561447	1	0.08975	N	1.995	0.54099	M	0.93	0.44065	T	-0.47	0.15178	N	0.062	0.03392	-1.0540	0.13305	T	0.036	0.15726	T	10	0.0032637417	0.00056	T	.	.	.	0.034	0.08419	.	.	0.322786055943	0.31880	0.07615494980692046	0.07551	0.0848295226273	0.09583	0.248238489032	0.03585	T	0.00523	0.10302	T	-0.543783	0.00318	T	-0.537626	0.18529	T	0.00311698036392431	0.00033	T	0.666633	0.27564	T	0.049013443	0.08637	0.054059256	0.09226	0.049013443	0.08636	0.054059256	0.09225	-3.546	0.17082	T	.	.	0.082	0.08609	B	.;.;.	.;.;.	0.549369	0.09179	5.962	0.56792964640960275	0.05629	0.05234	0.11065	N	AEFBI	0.053924	0.09760	N	-0.506155850104055	0.21880	1.16444	-0.621953268005065	0.18930	1.013428	0.992491889798911	0.32860	0.693126	0.56070	0	0.586423	0.34054	0	0.659464	0.59346	0	0.542086	0.14980	0	.	.	5.73	1.78	0.23918	0.077000	0.14593	0.615000	0.20071	0.587000	0.30956	0.000000	0.06391	0.002000	0.18203	0.043000	0.14563	0.0:0.593:0.1282:0.2787	6.613	0.21956	918	0.19598	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1865.98	104	chr9	76705907	.	C	T	1865.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.570e-01;DP=2347;ExcessHet=0.0000;FS=1.391;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.35;ReadPosRankSum=0.631;SOR=0.709	GT:AD:DP:GQ:PL	0/0:122,0:122:99:0,120,1800	20	0	1	0
chr9	76706639	76706639	C	T	exonic	PRUNE2	.	nonsynonymous SNV	PRUNE2:NM_001308047:exon8:c.G5635A:p.V1879M	.	.	425	1090	7	0	0	7	0.00320073	.	.	2697148	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.154	B	0.006	B	0.284	N	1.000	N	0.92	L	0.91	T	-1.039	T	0.068	T	0.33	-0.287	2.628	-5.78	-1.422	-0.130	8.554	0.014	0.0128293184428	0.0005	0.000599042	0.0003	0.0014	0.0004	0	0	0.0002	0.0011	0.0001	0.0002264	35	154602	rs146002268	9.784e-05	9.919e-05	8.577e-05	0.0001	0.0038	8.445e-05	7.922e-05	0.0026	0.0022	0.0013	0.0002	0	0	0	0.0038	3.238e-05	0.0003	0.0002	0.0005	0.0005	0.0005	0.0005	0.0015	0.0004	0.0004	0.0012	0.0011	0.0015	0	0.0003	0	0	0	0	0.0001	0.0005	0.0006	0.432	0.09486	T	0.132	0.36365	T	0.154	0.28120	B	0.006	0.12133	B	0.284052	0.03852	N	1.447790	1	0.08975	N	0.435	0.12660	N	0.91	0.44856	T	-0.06	0.08033	N	0.033	0.01825	-1.0386	0.17740	T	0.068	0.27879	T	10	0.0075345635	0.00171	T	0.012829	0.31741	T	0.055	0.15663	.	.	0.244539031024	0.24083	0.058691474101930936	0.05810	0.0837993937941	0.09449	0.180590450764	0.00099	T	0.004943	0.08886	T	-0.52154	0.00431	T	-0.557311	0.16630	T	0.000750462608823704	0.00007	T	0.587141	0.21465	T	0.02392281	0.01174	0.031684827	0.01792	0.02392281	0.01174	0.031684827	0.01792	-4.565	0.31729	T	.	.	0.075	0.05623	B	.;.;.	.;.;.	-0.342065	0.02439	0.277	0.71718774207177161	0.09725	0.00508	0.02383	N	AEFDBI	0.032344	0.03636	N	-1.32876656143492	0.03350	0.149506	-1.41623204711726	0.03089	0.1434345	0.999812000851098	0.43459	0.638212	0.43195	0	0.563428	0.19063	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	6.04	-5.78	0.02169	-0.125000	0.10555	-0.692000	0.07835	-1.021000	0.01731	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3919:0.336:0.272	8.554	0.32628	919	0.19497	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1041.98	106	chr9	76706639	.	C	T	1041.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=2126;ExcessHet=0.0000;FS=6.421;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=0.787;SOR=0.759	GT:AD:DP:GQ:PL	0/0:105,0:105:99:0,120,1800	20	0	1	0
chr9	76713697	76713697	T	A	exonic	PRUNE2	.	nonsynonymous SNV	PRUNE2:NM_001308047:exon7:c.A781T:p.T261S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.211	B	0.09	B	.	.	0.995	D	0.41	N	0.92	T	-1.040	T	0.046	T	0.124	2.688	14.95	-2.16	-0.042	-0.245	3.019	0.017	0.00724923774128	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1334602497	4.15e-06	5.472e-06	5.491e-06	2.788e-06	0.0002	1.49e-06	9.8e-07	5.874e-05	3.775e-05	0.0002	0	0	0	0	0	0	1.67e-05	0	6.569e-06	6.566e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.171	0.22746	T	0.145	0.33442	T	0.211	0.29987	B	0.09	0.29851	B	.	.	.	.	0.995456	0.42699	D	0.6	0.15550	N	0.92	0.44461	T	-0.73	0.35991	N	0.227	0.25499	-1.0400	0.17313	T	0.046	0.19559	T	9	0.09813285	0.17721	T	0.007249	0.19225	T	0.017	0.02790	0.397	0.42426	0.19670166235	0.19296	0.07105983230790998	0.07042	0.0867180676216	0.09781	0.321142673492	0.13595	T	0.004662	0.09515	T	-0.267225	0.12067	T	-0.621626	0.11059	T	0.0377117854718781	0.03281	T	0.483152	0.14651	T	0.0549868	0.10625	0.04773995	0.06941	0.0549868	0.10624	0.04773995	0.06940	-2.798	0.08165	T	.	.	0.102	0.18037	B	.;.	.;.	1.280988	0.16809	12.78	0.94483346185762451	0.24941	0.37569	0.25791	N	AEFDBI	0.119273	0.23286	N	-0.618291669190431	0.18395	0.9546757	-0.517932467590182	0.21667	1.173151	0.99314418666909	0.33102	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.75052	0.99595	0	.	.	6.07	-2.16	0.06684	-0.247000	0.08884	-0.009000	0.13087	0.665000	0.62972	0.643000	0.28111	0.911000	0.28135	0.996000	0.76049	0.1037:0.2605:0.1069:0.5289	3.019	0.05701	953	0.10115	DHHA2 domain|DHHA2 domain;DHHA2 domain|DHHA2 domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1266.98	34	chr9	76713697	.	T	A	1266.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.12;DP=802;ExcessHet=0.0000;FS=5.622;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.56;ReadPosRankSum=-5.600e-02;SOR=1.322	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1408	20	0	1	0
chr9	77238150	77238150	T	A	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon18:c.T1744A:p.C582S	Choreoacanthocytosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.959	D	0.583	P	0.000	D	1.000	D	1.79	L	0.93	T	-0.873	T	0.119	T	0.684	2.314	13.69	5.59	2.127	1.317	3.392	0.229	0.0273674004787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.65419	D	0.007	0.69154	D	0.959	0.55135	D	0.583	0.50264	P	0.000346	0.45440	D	0.137195	0.700188	0.33413	D	2.2	0.62015	M	0.93	0.44065	T	-2.6	0.58569	D	0.702	0.72656	-0.8730	0.50302	T	0.119	0.41626	T	10	0.8568966	0.84890	D	0.027367	0.50187	D	0.229	0.52916	0.853	0.95376	0.68145362076	0.67874	0.6540565763120635	0.65341	0.279983359227	0.30479	0.528860270977	0.42873	T	0.361942	0.72793	T	0.00799444	0.52751	T	-0.226293	0.52130	T	0.909263551235199	0.56411	D	0.868313	0.57032	D	0.26598832	0.49669	0.21069777	0.45467	0.26598832	0.49669	0.21069777	0.45466	-9.769	0.72516	D	.	.	0.682	0.72234	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.493977	0.48848	22.7	0.96571617566601686	0.30297	0.77471	0.38094	D	AEFHCI	0.402180	0.47637	N	0.374660178311007	0.60052	4.190096	0.417685461136656	0.62665	4.485944	0.971830820968708	0.29320	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.59	5.59	0.84677	1.341000	0.33512	6.164000	0.54386	0.609000	0.47794	0.998000	0.41325	1.000000	0.68203	0.979000	0.57723	0.1701:0.1834:0.0:0.6465	3.392	0.06868	827	0.39843	.;.;VPS13, repeated coiled region;.;.;.;VPS13, repeated coiled region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1252.98	33	chr9	77238150	.	T	A	1252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=795;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=-1.968e+00;SOR=0.738	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1006	20	0	1	0
chr9	77247315	77247315	G	T	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon20:c.G1957T:p.A653S	Choreoacanthocytosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.121	B	0.058	B	0.000	D	1.000	D	1.27	L	0.61	T	-1.023	T	0.119	T	0.463	3.280	17.01	5.52	2.743	4.107	16.082	0.058	0.0115127104807	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1294055057	1.373e-06	2.052e-06	0	2.76e-06	1.803e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.803e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.34621	T	0.362	0.30534	T	0.121	0.26708	B	0.036	0.26451	B	0.000034	0.55875	D	0.119571	0.999986	0.54805	D	1.025	0.25523	L	0.61	0.53516	T	-1.07	0.31981	N	0.262	0.29659	-1.0234	0.22606	T	0.119	0.41713	T	10	0.17469022	0.32361	T	0.011513	0.29207	T	0.058	0.16647	0.661	0.79894	0.596289430357	0.59307	0.6724149351495822	0.67179	0.133449264394	0.15028	0.443638324738	0.31074	T	0.164415	0.50986	T	-0.051462	0.44225	T	-0.311698	0.43476	T	0.38830971743434	0.28500	T	0.864413	0.56401	D	0.1291693	0.30177	0.12831485	0.30873	0.1291693	0.30176	0.12831485	0.30872	-6.531	0.50525	T	.	.	0.121	0.24967	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.876115	0.38048	20.6	0.99303229652254554	0.58722	0.95365	0.64436	D	AEFBI	0.492485	0.52910	N	0.0703128589379383	0.45082	2.770749	0.252740625024719	0.52803	3.452931	0.999986895086554	0.51787	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.52	5.52	0.82153	2.982000	0.49027	5.014000	0.46692	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1339:0.8661:0.0	16.082	0.80820	826	0.39940	.;.;VPS13, repeated coiled region;.;.;.;VPS13, repeated coiled region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1595.98	33	chr9	77247315	.	G	T	1595.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=803;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.88;ReadPosRankSum=0.152;SOR=0.767	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1267	20	0	1	0
chr9	77295818	77295818	A	G	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon32:c.A3667G:p.I1223V	Choreoacanthocytosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.004	B	0.019	B	0.024	N	1.000	D	0.28	N	2.74	T	-0.961	T	0.017	T	0.083	0.500	6.714	-0.986	-0.138	1.294	10.217	0.030	0.00393376072711	.	.	2.491e-05	0	0	0	0	3.006e-05	0	6.064e-05	1.94e-05	3	154602	rs766063874	5.473e-06	5.472e-06	1.361e-06	9.627e-06	1.159e-05	2.36e-06	1.7e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.296e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.14996	T	0.793	0.04155	T	0.001	0.12183	B	0.002	0.18783	B	0.023512	0.26429	N	0.347814	0.850312	0.28506	N	1.42	0.35681	L	2.74	0.11730	T	-0.3	0.12661	N	0.166	0.30233	-0.9610	0.38993	T	0.017	0.06807	T	10	0.059349507	0.07121	T	0.003934	0.09274	T	0.030	0.07022	0.409	0.44395	0.126345400529	0.12197	0.4058718258763962	0.40503	0.106865737165	0.12070	0.345787465572	0.17300	T	0.161873	0.50631	T	-0.384775	0.02906	T	-0.693625	0.06181	T	0.0267854375409409	0.01514	T	0.694431	0.30434	T	0.024248667	0.01238	0.032922506	0.02105	0.024248667	0.01238	0.032922506	0.02104	-3.599	0.17842	T	.	.	0.071	0.03811	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.748318	0.11177	7.817	0.57463526817156696	0.05775	0.17334	0.19792	N	AEFBI	0.057378	0.10682	N	-1.0101002539611	0.08394	0.3933935	-0.91260570262717	0.11796	0.6031503	0.0487290325396525	0.14779	0.706298	0.61202	0	0.653731	0.59785	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.17	-0.986	0.09728	1.370000	0.33843	0.665000	0.20538	-0.050000	0.17177	0.838000	0.30254	0.004000	0.18990	0.983000	0.59808	0.4634:0.0:0.5366:0.0	10.217	0.42350	755	0.51144	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	823.98	33	chr9	77295818	.	A	G	823.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.700e-02;DP=717;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.16;ReadPosRankSum=-3.170e-01;SOR=0.648	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1085	20	0	1	0
chr9	77344204	77344204	G	A	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon50:c.G6961A:p.E2321K	Choreoacanthocytosis, Autosomal recessive	YES	7	1499	15	1	0	17	0.00563847	.	.	313408	VPS13A-related_disorder|Chorea-acanthocytosis|not_provided	.|MONDO:MONDO:0008695,MedGen:C0393576,OMIM:200150,Orphanet:2388|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.88	T	1.0	D	0.985	D	0.000	D	1.000	D	1.445	L	1.53	T	-1.052	T	0.140	T	0.8	1.962	12.52	5.96	2.830	6.960	19.382	0.206	0.0254008848318	7.7e-05	.	0.0006	0	8.639e-05	0	0	0.0002	0.0011	0.0034	0.0004463	69	154602	rs370401336	0.0003	0.0003	0.0002	0.0004	0.0037	0.0003	0.0002	0.0034	0.0032	0	0	3.831e-05	5.055e-05	0	0.0016	4.411e-05	0.0003	0.0037	0.0001	0.0001	5.144e-05	0.0002	0.0027	8.175e-05	6.73e-05	0.0016	0.0013	0	0	0	0	0	0	0	7.353e-05	0.0005	0.0027	0.109	0.29288	T	0.15	0.40110	T	0.999	0.90584	D	0.939	0.76457	D	0.000001	0.84330	D	0.055231	1	0.81001	D	2.25	0.63811	M	1.53	0.30401	T	-1.13	0.29114	N	0.809	0.82358	-1.0517	0.13926	T	0.140	0.45847	T	10	0.008782804	0.00199	T	0.025401	0.48370	D	0.206	0.49396	.	.	0.651195803754	0.64829	0.6882308993755194	0.68763	0.629044018117	0.56961	0.561564683914	0.47489	T	0.11496	0.43318	T	-0.228054	0.16906	T	-0.103097	0.63156	T	0.127359509468079	0.15136	T	0.906209	0.66975	D	0.18048228	0.39171	0.22905059	0.47965	0.18048228	0.39170	0.22905059	0.47964	-6.019	0.58192	T	.	.	0.086	0.10594	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.195196	0.87139	29.1	0.92037929451987821	0.21379	0.98675	0.85440	D	AEFBI	0.743335	0.68667	D	0.415732734553668	0.62287	4.442098	0.476276528578892	0.66420	4.949937	0.999999997492236	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.96	5.96	0.96695	7.036000	0.76250	9.879000	0.82185	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	19.382	0.94532	563	0.71062	.;.;Vacuolar protein sorting-associated protein 13, SHR-binding domain;.;.;.;Vacuolar protein sorting-associated protein 13, SHR-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.04762	1505.11	34	chr9	77344204	.	G	A	1505.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.732;DP=793;ExcessHet=0.1072;FS=0.615;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=1.44;SOR=0.628	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1035	19	0	2	0
chr9	77353445	77353445	A	G	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon53:c.A7339G:p.I2447V	Choreoacanthocytosis, Autosomal recessive	.	11	1491	18	2	0	22	0.00732357	.	.	508841	not_provided|Chorea-acanthocytosis|VPS13A-related_disorder	MedGen:C3661900|MONDO:MONDO:0008695,MedGen:C0393576,OMIM:200150,Orphanet:2388|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.51	T	0.035	B	0.016	B	0.002	N	1.000	D	0.63	N	0.96	T	-1.086	T	0.056	T	0.085	0.024	4.136	2.87	0.302	1.551	5.560	0.035	0.00509907513593	0.0005	0.00239617	0.0017	9.733e-05	0.0004	0	0	0.0009	0.0011	0.0084	0.0015265	236	154602	rs142981309	0.0011	0.0011	0.0008	0.0014	0.0082	0.0010	0.0010	0.0077	0.0075	5.983e-05	0.0004	0.0039	2.526e-05	0	0.0038	0.0006	0.0012	0.0082	0.0006	0.0006	0.0004	0.0008	0.0077	0.0005	0.0005	0.0057	0.0051	0	0	0.0003	0.0032	0.0004	0	0.0068	0.0005	0.0010	0.0077	0.281	0.15665	T	0.291	0.21343	T	0.035	0.20614	B	0.012	0.17743	B	0.001897	0.37740	N	0.118206	0.921243	0.27288	N	0.345	0.11182	N	0.96	0.42888	T	-0.54	0.17834	N	0.474	0.52297	-1.0857	0.06281	T	0.056	0.23565	T	10	0.008465022	0.00192	T	0.005099	0.12939	T	0.035	0.08770	.	.	0.132336055621	0.12781	0.17412429234440926	0.17331	0.113962728729	0.12857	0.382533103228	0.22616	T	0.173373	0.52222	T	-0.60769	0.00131	T	-0.639425	0.09712	T	0.00726157394679778	0.00083	T	0.70393	0.31399	T	0.02107173	0.00691	0.025982434	0.00665	0.02000986	0.00545	0.021071348	0.00172	-3.329	0.15327	T	.	.	0.068	0.02797	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.529483	0.08981	5.764	0.67630093831559157	0.08412	0.40322	0.26411	N	AEGI	0.051549	0.09117	N	-0.886275842468932	0.11169	0.5375229	-0.739511580399801	0.15981	0.8431712	0.0156997794771085	0.12744	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.22	2.87	0.32523	1.595000	0.36318	3.080000	0.36236	-0.744000	0.03643	0.839000	0.30269	0.968000	0.29604	0.537000	0.29868	0.581:0.1358:0.2833:0.0	5.560	0.16423	543	0.72751	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.04762	1304.11	36	chr9	77353445	.	A	G	1304.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.68;DP=858;ExcessHet=0.1072;FS=1.538;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.11;ReadPosRankSum=0.960;SOR=0.858	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	19	0	2	0
chr9	77382074	77382074	A	G	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon67:c.A9059G:p.N3020S	Choreoacanthocytosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1199984	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.236	B	0.165	B	0.000	D	1.000	D	0.225	N	1.04	T	-1.046	T	0.069	T	0.085	0.909	8.697	5.32	2.010	6.034	6.788	0.071	0.012264174377	.	.	2.499e-05	0	0	0	0	4.553e-05	0	0	1.94e-05	3	154602	rs768641511	2.819e-05	2.805e-05	1.915e-05	3.732e-05	0.0002	2.097e-05	1.888e-05	2.549e-05	2.232e-05	0	2.262e-05	0	0	0	0.0002	3.429e-05	1.665e-05	0	2.629e-05	2.626e-05	1.285e-05	4.036e-05	6.545e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	6.545e-05	0	0	0	0	2.94e-05	0.0005	0	0.875	0.03028	T	0.784	0.04274	T	0.236	0.30770	B	0.165	0.35019	B	0.000000	0.84330	D	0.044008	0.964861	0.40173	D	-0.2	0.04182	N	1.04	0.47130	T	-0.86	0.26422	N	0.397	0.43803	-1.0459	0.15563	T	0.069	0.28113	T	9	0.0897654	0.15577	T	0.012264	0.30673	T	0.071	0.20720	0.31	0.28289	0.419713421852	0.41588	0.36006005603213587	0.35920	0.10701981238	0.12085	0.638090133667	0.58293	T	0.199676	0.55703	T	-0.316802	0.07162	T	-0.585184	0.14086	T	0.248257771134377	0.22795	T	0.921208	0.71764	D	0.07052652	0.15541	0.082115285	0.18716	0.07052652	0.15541	0.082115285	0.18716	-2.204	0.07697	T	.	.	0.081	0.08417	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.256634	0.28829	17.93	0.95089166719444995	0.26151	0.73394	0.35902	D	AEFBI	0.425314	0.49013	N	-0.0453224390903342	0.39811	2.35388	0.156774711515482	0.47500	2.979455	0.0875968446558537	0.16039	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.32	5.32	0.75377	6.276000	0.72624	11.187000	0.88524	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8323:0.0:0.1677:0.0	6.788	0.22866	621	0.65931	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1746.98	33	chr9	77382074	.	A	G	1746.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.190e+00;DP=874;ExcessHet=0.0000;FS=0.558;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.04;ReadPosRankSum=1.25;SOR=0.612	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr9	77529163	77529163	G	A	exonic	GNA14	.	nonsynonymous SNV	GNA14:NM_004297:exon2:c.C215T:p.T72M,	.	.	416	1102	4	0	0	4	0.00181159	.	.	2839712	Tufted_angioma_of_skin	Human_Phenotype_Ontology:HP:0012329,MONDO:MONDO:0011927,MedGen:C0346073,OMIM:607859,Orphanet:1063	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.986	D	0.899	P	0.000	D	0.999	D	1.925	M	-2.47	D	0.631	D	0.769	D	0.493	3.968	20.3	5.92	2.828	5.720	15.948	0.487	0.0675012354514	0.0014	0.000599042	0.0015	0.0007	0.0008	0	0	0.0014	0.0011	0.0044	0.0013583	210	154602	rs45466295	0.0014	0.0014	0.0013	0.0014	0.0039	0.0013	0.0013	0.0036	0.0034	0.0003	0.0005	3.826e-05	0	1.872e-05	0.0021	0.0014	0.0015	0.0039	0.0010	0.0010	0.0010	0.0010	0.0035	0.0009	0.0008	0.0022	0.0018	0.0004	0	0.0009	0	0	0	0.0068	0.0015	0.0019	0.0035	0.107	0.29554	T	0.027	0.55341	D	0.986	0.61523	D	0.899	0.63802	P	0.000002	0.62929	D	0.102410	0.999329	0.46670	D	2.61	0.76335	M	-2.47	0.88997	D	-1.99	0.45949	N	0.641	0.65330	0.631	0.92307	D	0.769	0.92157	D	10	0.027977735	0.00936	T	0.067501	0.70184	D	0.487	0.77528	.	.	0.913456571399	0.91258	0.5332898095198776	0.53253	0.3886121274	0.40126	0.716131091118	0.69483	T	0.440593	0.78544	T	-0.202195	0.20489	T	-0.062812	0.66135	T	0.0333036704550209	0.02521	T	0.973803	0.90577	D	0.092117384	0.21602	0.11331131	0.27347	0.092117384	0.21602	0.11331131	0.27346	-9.885	0.73220	D	0.5590750195115091	0.62697	0.144	0.31733	B	.	.	4.619556	0.73340	26.0	0.99895002661742249	0.96819	0.96280	0.68370	D	AEFBI	0.775152	0.70865	D	0.771517996938339	0.84298	8.248719	0.782918042658339	0.88582	9.636246	0.999987571461843	0.51787	0.643511	0.44296	0	0.573888	0.26702	0	0.688494	0.62686	0	0.668105	0.65232	0	.	.	5.92	5.92	0.95557	5.835000	0.69073	11.813000	0.96995	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.916000	0.45140	0.0:0.0:0.8645:0.1354	15.948	0.79594	888	0.27761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3140.98	33	chr9	77529163	.	G	A	3140.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.948;DP=916;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.54;ReadPosRankSum=0.348;SOR=0.720	GT:AD:DP:GQ:PL	0/1:103,129:232:99:3155,0,2287	20	0	1	0
chr9	77647697	77647697	G	A	exonic	GNA14	.	nonsynonymous SNV	GNA14:NM_004297:exon1:c.C97T:p.R33C,	.	.	416	1036	67	3	0	73	0.0340326	.	.	723630	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.954	D	0.000	D	1.000	D	2.905	M	-2.47	D	0.856	D	0.840	D	0.782	5.557	35	5.39	2.516	4.175	18.722	0.738	.	0.0019	0.00379393	0.0066	0.0009	0.0049	0	0	0.0043	0.0052	0.0242	0.0044695	691	154602	rs138686336	0.0033	0.0033	0.0026	0.0040	0.0364	0.0032	0.0032	0.0324	0.0308	0.0010	0.0040	0.0257	0	7.59e-05	0.0364	0.0014	0.0060	0.0210	0.0028	0.0028	0.0025	0.0030	0.0180	0.0026	0.0025	0.0150	0.0138	0.0004	0	0.0048	0.0242	0	9.407e-05	0.0442	0.0019	0.0090	0.0180	0.001	0.78490	D	0.004	0.74150	D	0.999	0.77913	D	0.954	0.69447	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.635	0.94052	H	-2.47	0.88997	D	-4.76	0.80340	D	0.539	0.56662	0.856	0.95101	D	0.840	0.94656	D	10	0.009296596	0.00210	T	.	.	.	0.738	0.90895	.	.	0.911366689434	0.91047	0.7654683213464282	0.76495	0.247364135573	0.27283	0.744459748268	0.73629	T	0.773193	0.93946	D	-0.0334965	0.46907	T	0.196028	0.82911	D	0.136027127504349	0.15929	T	0.889111	0.62070	D	0.573799	0.71269	0.48309243	0.70072	0.573799	0.71270	0.48309243	0.70073	-11.881	0.84266	D	0.6395720819962271	0.71007	0.734	0.74359	P	.	.	5.366148	0.89973	31	0.99931552829862558	0.99387	0.89540	0.50069	D	AEFDBHCIJ	0.842029	0.75917	D	0.785945920123496	0.85217	8.511172	0.736347521597922	0.85135	8.490814	1.0	0.98316	0.789315	0.99827	0	0.563428	0.19063	0	0.768056	0.98339	0	0.71	0.69187	0	.	.	5.39	5.39	0.77615	3.554000	0.53466	9.800000	0.81690	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.722	0.91661	807	0.43470	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	870.98	38	chr9	77647697	.	G	A	870.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.670e-01;DP=774;ExcessHet=0.0000;FS=0.913;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=0.083;SOR=0.914	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1135	20	0	1	0
chr9	78248299	78248299	A	G	exonic	CEP78	.	nonsynonymous SNV	CEP78:NM_001098802:exon7:c.A901G:p.M301V	Cone-rod dystrophy and hearing loss, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	836263	Cone-rod_dystrophy_and_hearing_loss_1|not_provided	MONDO:MONDO:0020778,MedGen:C5193018,OMIM:617236|MedGen:CN517202	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.74	T	0.0	B	0.001	B	0.036	N	0.925	N	-1.1	N	0.73	T	-1.026	T	0.029	T	0.035	0.270	5.459	-0.082	0.054	-0.030	2.554	0.047	0.00515634486822	0.0009	.	0.0003	0	9.839e-05	0	0.0002	0.0005	0	0.0002	0.0003169	49	154602	rs200072743	0.0006	0.0007	0.0006	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0001	0	0	0	0	0	0.0008	0.0003	0.0001	0.0005	0.0005	0.0005	0.0004	0.0008	0.0004	0.0003	0.0006	0.0006	0.0003	0	0	0	0	0	0	0.0008	0.0005	0.0002	0.508	0.07969	T	0.363	0.17640	T	0.0	0.02946	B	0.001	0.04355	B	0.035781	0.24603	N	0.412475	0.924923	0.27204	N	0	0.06538	N	0.73	0.50721	T	-0.25	0.12283	N	0.131	0.13769	-1.0261	0.21723	T	0.029	0.12541	T	10	0.02066797	0.00480	T	0.005156	0.13094	T	0.047	0.12962	.	.	0.165133752707	0.16062	0.19977263746680388	0.19894	0.0146073413926	0.01385	0.274392366409	0.06722	T	0.01827	0.14759	T	-0.592113	0.00163	T	-0.728621	0.04390	T	0.00292016374432808	0.00031	T	0.680832	0.29103	T	0.022546858	0.00926	0.026033938	0.00672	0.022546858	0.00926	0.026033938	0.00672	-4.964	0.36905	T	0.0965008382768766	0.06684	0.050	0.00593	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	0.673537	0.10422	7.142	0.49909039176031672	0.04291	0.07728	0.13729	N	AEFBI	0.044515	0.07171	N	-1.29381225367217	0.03749	0.1680364	-1.08454951648405	0.08003	0.3916881	0.0543196962614549	0.14969	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	6.03	-0.0823	0.13033	0.103000	0.15128	0.274000	0.16691	-1.419000	0.01127	0.181000	0.24076	0.697000	0.26210	0.972000	0.54974	0.1189:0.2193:0.4241:0.2378	2.554	0.04468	954	0.10045	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	825.98	33	chr9	78248299	.	A	G	825.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.609;DP=723;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.86;ReadPosRankSum=1.12;SOR=0.569	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,984	20	0	1	0
chr9	78248353	78248353	G	C	exonic	CEP78	.	nonsynonymous SNV	CEP78:NM_001098802:exon7:c.G955C:p.E319Q	Cone-rod dystrophy and hearing loss, Autosomal recessive	.	437	1083	2	0	0	2	0.000922509	0.9579	0.796	497121	Cone-rod_dystrophy_and_hearing_loss_1|not_specified|not_provided	MONDO:MONDO:0020778,MedGen:C5193018,OMIM:617236|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.975	D	0.000	D	0.996	D	1.7	L	0.62	T	-0.916	T	0.086	T	0.622	4.354	22.9	6.03	2.861	7.295	19.135	0.129	.	0.0087	0.00798722	0.0025	0.0284	0.0014	0	0	0.0001	0	0	0.0022768	352	154602	rs61730338	0.0009	0.0009	0.0011	0.0008	0.0295	0.0009	0.0009	0.0280	0.0274	0.0295	0.0023	0	0	0	0.0035	7.457e-05	0.0026	8.238e-05	0.0089	0.0089	0.0095	0.0082	0.0303	0.0085	0.0083	0.0289	0.0284	0.0303	0	0.0041	0	0	0	0	0.0001	0.0090	0.0002	0.074	0.34982	T	0.114	0.40267	T	0.93	0.90584	P	0.471	0.73362	P	0.000185	0.48115	D	0.130931	0.995853	0.42890	D	2.595	0.75868	M	0.62	0.53302	T	-2.04	0.47683	N	0.588	0.61764	-0.9161	0.46076	T	0.086	0.33298	T	10	0.0085693	0.00194	T	.	.	.	0.129	0.35316	.	.	0.816351253515	0.81462	0.3599086159661429	0.35904	0.109910458727	0.12392	0.520099103451	0.41641	T	0.078612	0.35932	T	-0.293426	0.09295	T	-0.171265	0.57326	T	0.0163039175908371	0.00401	T	0.838616	0.51465	T	0.13458362	0.31265	0.1358563	0.32517	0.13922049	0.32167	0.13215181	0.31718	-10.356	0.76015	D	0.2575275129097195	0.34801	0.277	0.56527	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.760866	0.76968	26.6	0.99765112150982171	0.85417	0.98818	0.87255	D	AEFBI	0.866100	0.78542	D	0.714406869930313	0.80576	7.325051	0.75228247574607	0.86328	8.853792	0.999999919012029	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	6.03	6.03	0.97798	7.391000	0.79108	11.737000	0.95113	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.135	0.93409	953	0.10115	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	391.98	33	chr9	78248353	.	G	C	391.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.837;DP=728;ExcessHet=0.0000;FS=1.258;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.89;ReadPosRankSum=-6.690e-01;SOR=0.941	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,984	20	0	1	0
chr9	81634100	81634100	T	C	exonic	TLE1	.	nonsynonymous SNV	TLE1:NM_001303103:exon7:c.A604G:p.R202G	.	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.967	D	0.916	D	0.001	N	1.000	D	1.475	L	1.38	T	-0.672	T	0.234	T	0.71	2.639	14.78	5.7	2.174	3.912	15.964	0.122	0.0438575891417	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs199776589	1.375e-05	1.437e-05	1.093e-05	1.66e-05	0.0007	8.98e-06	7.3e-06	0.0002	0.0001	0	0	0	0	0	0.0007	4.511e-06	0.0001	3.555e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.72154	D	0.08	0.41913	T	0.0	0.56408	B	0.003	0.62418	B	0.001160	0.40056	N	0.235594	0.999992	0.81001	D	.	.	.	0.82	0.49358	T	-2.96	0.69950	D	0.713	0.71587	-0.6723	0.61724	T	0.234	0.60014	T	10	0.38659772	0.54586	T	0.043858	0.61196	D	0.122	0.33800	0.281	0.23642	0.427162283902	0.42336	0.2300005951841095	0.22915	0.526482578618	0.50275	0.707641720772	0.68251	T	0.647561	0.89265	D	0.0870988	0.62862	D	-0.112665	0.62398	T	0.792201280593872	0.45833	D	0.909809	0.76191	D	0.28132728	0.51175	0.26907828	0.52783	0.28132728	0.51175	0.26907828	0.52782	-8.02	0.61206	D	.	.	0.147	0.39613	B	.;.;.	.;.;.	4.390339	0.67755	25.1	0.99739184337380382	0.83337	0.91695	0.54067	D	ALL	0.796480	0.72360	D	0.262482710520039	0.54261	3.591935	0.377336897113208	0.60171	4.201737	0.999999999996672	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.7	5.7	0.88690	6.166000	0.71739	7.903000	0.73657	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.964	0.79746	979	0.04160	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1135.98	34	chr9	81634100	.	T	C	1135.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=791;ExcessHet=0.0000;FS=1.771;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.36;ReadPosRankSum=1.60;SOR=0.740	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1144	20	0	1	0
chr9	81992775	81992775	G	T	exonic	SPATA31D1	.	nonsynonymous SNV	SPATA31D1:NM_001001670:exon4:c.G2305T:p.V769L,	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.041	B	0.078	B	0.000	N	1.000	N	0.96	L	3.52	T	-0.962	T	0.015	T	0.073	0.310	5.680	-4.03	-0.930	-0.467	8.861	0.026	0.000994122723668	.	.	1.658e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs761672079	6.842e-06	6.84e-06	4.085e-06	9.628e-06	5.797e-05	3.46e-06	2.52e-06	2.194e-05	1.43e-05	0	0	0	0	0	0	3.598e-06	1.657e-05	5.797e-05	6.57e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.854	0.02712	T	0.166	0.30828	T	0.041	0.21357	B	0.078	0.28627	B	0.000041	0.00387	N	4.293710	1	0.08975	N	1.35	0.33515	L	3.52	0.04905	T	-0.58	0.17417	N	0.065	0.03726	-0.9618	0.38839	T	0.015	0.06186	T	10	0.03718999	0.02059	T	9.94E-4	0.01050	T	0.026	0.05648	0.332	0.31843	0.104622674875	0.10061	0.07043592182051533	0.06980	.	.	0.491052150726	0.37584	T	7.3E-4	0.00340	T	-0.53246	0.00372	T	-0.799964	0.01903	T	0.0428689982376659	0.04214	T	0.558744	0.19484	T	0.03545281	0.04175	0.04014178	0.04269	0.03545281	0.04174	0.04014178	0.04269	-3.2	0.12480	T	.	.	0.206	0.43269	B	.	.	-0.526242	0.01784	0.137	0.65758435521982861	0.07863	0.01043	0.03895	N	AEFI	0.032337	0.03632	N	-1.41711620723753	0.02488	0.1099449	-1.53191224213978	0.02103	0.09621966	1.47569472688157E-4	0.05573	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.96	-4.03	0.03752	-1.810000	0.01824	-5.493000	0.01698	0.462000	0.21616	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.7538:0.0:0.2462:0.0	8.861	0.34412	923	0.18507	SPATA31/FAM205	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1887.98	37	chr9	81992775	.	G	T	1887.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.152;DP=1150;ExcessHet=0.0000;FS=2.672;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.54;MQRankSum=0.461;QD=10.85;ReadPosRankSum=0.096;SOR=0.565	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1262	20	0	1	0
chr9	81993268	81993268	C	T	exonic	SPATA31D1	.	nonsynonymous SNV	SPATA31D1:NM_001001670:exon4:c.C2798T:p.A933V,	.	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.796	P	0.119	B	0.007	N	1.000	N	0.55	N	3.41	T	-0.985	T	0.010	T	0.284	2.851	15.50	-1.5	-0.385	0.043	4.367	0.065	0.000891829550146	.	.	8.302e-05	0	0	0.0005	0	0	0	0.0004	6.47e-05	10	154602	rs776906027	2.942e-05	3.01e-05	1.906e-05	3.988e-05	0.0003	2.217e-05	1.97e-05	0.0002	0.0001	2.987e-05	0	0.0002	0.0002	0	0.0003	1.799e-06	4.969e-05	0.0003	6.571e-06	6.567e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.097	0.30943	T	0.039	0.51112	D	0.796	0.44790	P	0.119	0.32162	B	0.006634	0.01133	N	3.544070	1	0.08975	N	0.805	0.20218	L	3.41	0.05574	T	-1.03	0.27052	N	0.154	0.15888	-0.9848	0.33879	T	0.010	0.03811	T	10	0.062103212	0.07889	T	8.92E-4	0.00822	T	0.065	0.18881	0.502	0.59460	0.0611884634855	0.05136	0.021688346452125702	0.02120	.	.	0.359604209661	0.19328	T	0.004234	0.03640	T	-0.492842	0.00627	T	-0.641162	0.09584	T	0.0288922212935638	0.01821	T	0.326667	0.06741	T	0.03349675	0.03579	0.04057937	0.04419	0.03349675	0.03579	0.04057937	0.04419	-4.38	0.29285	T	.	.	0.099	0.16713	B	.	.	0.638508	0.10067	6.818	0.90732681505056945	0.19983	0.00535	0.02472	N	AEFI	0.020026	0.00751	N	-1.23594104419202	0.04488	0.202678	-1.3727291051543	0.03545	0.1655897	1.7590448860922E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.99	-1.5	0.08233	0.110000	0.15273	-1.016000	0.06596	-1.895000	0.00529	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.396:0.4076:0.0:0.1964	4.367	0.10665	922	0.19044	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1357.98	38	chr9	81993268	.	C	T	1357.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.450e-01;DP=1364;ExcessHet=0.0000;FS=2.713;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.60;ReadPosRankSum=-2.548e+00;SOR=0.525	GT:AD:DP:GQ:PL	0/0:89,0:89:99:0,120,1800	20	0	1	0
chr9	81993985	81993985	C	T	exonic	SPATA31D1	.	nonsynonymous SNV	SPATA31D1:NM_001001670:exon4:c.C3515T:p.T1172I,	.	.	436	1061	25	0	0	25	0.0116442	.	.	3185101	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.32	T	0.01	B	0.012	B	.	.	1.000	N	-0.205	N	3.73	T	-0.940	T	0.003	T	0.042	-2.303	0.004	-6.11	-2.594	-3.244	0.145	0.091	.	0.0076	0.00599042	0.0093	0.0025	0.0096	0.0094	0.0186	0.0096	0.0067	0.0081	0.0086545	1338	154602	rs75742550	0.0093	0.0093	0.0093	0.0093	0.0222	0.0092	0.0091	0.0191	0.0179	0.0021	0.0061	0.0109	0.0142	0.0162	0.0222	0.0092	0.0093	0.0079	0.0077	0.0077	0.0075	0.0079	0.0127	0.0073	0.0072	0.0103	0.0094	0.0026	0	0.0082	0.0098	0.0127	0.0160	0.0306	0.0089	0.0076	0.0075	0.606	0.05534	T	0.749	0.04825	T	0.01	0.15535	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	-0.145	0.04423	N	3.73	0.03982	T	0.24	0.04533	N	0.038	0.01203	-0.9403	0.42568	T	0.003	0.00832	T	9	0.00535962	0.00118	T	.	.	.	0.091	0.26358	.	.	0.0551355673512	0.04727	0.059101713218592894	0.05850	.	.	0.363908261061	0.19953	T	0.001127	0.00635	T	-0.779051	0.00011	T	-0.881441	0.00642	T	0.000265831222128499	0.00002	T	0.309669	0.06003	T	0.021717023	0.00789	0.025837151	0.00643	0.021717023	0.00789	0.025837151	0.00643	-4.279	0.27881	T	.	.	0.172	0.37709	B	.	.	-1.202646	0.00528	0.012	0.049538297947052883	0.00007	0.00708	0.02999	N	AEFBHCI	0.022272	0.01093	N	-1.99019609734896	0.00222	0.009516159	-2.08048189749089	0.00205	0.009048892	0.0787346038505071	0.15797	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.05	-6.11	0.01950	-1.815000	0.01816	-9.720000	0.00785	-1.342000	0.01202	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2811:0.1577:0.2358:0.3254	0.145	0.00081	921	0.19240	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2155.98	38	chr9	81993985	.	C	T	2155.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.184;DP=1395;ExcessHet=0.0000;FS=0.566;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=-1.159e+00;SOR=0.615	GT:AD:DP:GQ:PL	0/0:89,0:89:99:0,120,1800	20	0	1	0
chr9	82997016	82997016	A	G	exonic	RASEF	.	nonsynonymous SNV	RASEF:NM_152573:exon14:c.T1916C:p.I639T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.954	P	0.985	D	0.001	N	1.000	D	2.29	M	-1.37	T	0.305	D	0.639	D	0.61	3.889	19.77	4.48	0.929	9.270	11.597	0.793	0.16202023477	.	.	1.65e-05	0	0	0	0	3.001e-05	0	0	1.29e-05	2	154602	rs751669186	5.65e-06	5.474e-06	5.647e-06	5.653e-06	2.535e-05	2.43e-06	1.76e-06	2.72e-06	1.75e-06	0	0	0	2.535e-05	0	0	6.539e-06	0	0	1.972e-05	1.97e-05	3.854e-05	0	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.004	0.65419	D	0.003	0.76473	D	0.954	0.54400	P	0.985	0.76457	D	0.001421	0.39109	N	0.246707	0.999981	0.54805	D	2.6	0.76081	M	-1.37	0.80214	T	-4.09	0.74821	D	0.858	0.85449	0.305	0.87632	D	0.639	0.87391	D	10	0.9774169	0.97572	D	0.16202	0.84168	D	0.793	0.93188	0.872	0.96425	0.829482567802	0.82786	0.6047715587816743	0.60408	0.754637081558	0.63948	0.414985507727	0.27146	T	0.596037	0.86984	D	0.130017	0.67363	D	-0.0355298	0.68000	D	0.979944825172424	0.73096	D	0.871013	0.57621	D	0.53468627	0.69097	0.34948176	0.60573	0.53468627	0.69098	0.34948176	0.60572	-12.006	0.84881	D	.	.	0.455	0.62445	A	.	.	4.670003	0.74633	26.2	0.99821558002964272	0.90414	0.98388	0.82268	D	AEFDBI	0.882881	0.81135	D	0.68003139376482	0.78322	6.848621	0.634422443207195	0.77455	6.682776	0.999957541078523	0.48110	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.65	4.48	0.53973	9.290000	0.95109	8.091000	0.76520	0.756000	0.94297	1.000000	0.71638	0.992000	0.31684	0.993000	0.69303	0.8663:0.0:0.0:0.1337	11.597	0.50233	913	0.21160	Small GTP-binding protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1862.98	33	chr9	82997016	.	A	G	1862.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.760e-01;DP=850;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.64;ReadPosRankSum=0.621;SOR=0.710	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1246	20	0	1	0
chr9	83784720	83784720	G	A	exonic	GKAP1	.	nonsynonymous SNV	GKAP1:NM_001135953:exon6:c.C557T:p.S186L	.	.	575	942	4	1	0	6	0.0031746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	T	0.018	B	0.006	B	0.014	N	0.532	D	0.345	N	.	.	-1.010	T	0.060	T	0.149	0.837	8.380	4.23	1.110	3.366	8.019	0.032	0.00193864225079	0.0004	0.000599042	0.0005	0	8.646e-05	0	0	0.0004	0	0.0020	0.0004334	67	154602	rs141041688	0.0003	0.0003	0.0002	0.0003	0.0021	0.0002	0.0002	0.0018	0.0017	9.362e-05	0.0003	0.0013	2.571e-05	0.0002	0.0012	0.0001	0.0004	0.0021	0.0003	0.0003	0.0003	0.0003	0.0019	0.0002	0.0002	0.0010	0.0007	0	0	0.0007	0.0012	0	0.0002	0.0034	0.0002	0.0009	0.0019	0.428	0.09600	T	0.271	0.22291	T	0.018	0.17786	B	0.006	0.12133	B	0.014209	0.28601	N	0.422777	0.532094	0.31984	D	1.12	0.28775	L	.	.	.	-1.51	0.36787	N	0.284	0.32148	-1.0105	0.26760	T	0.060	0.24981	T	9	0.0071997046	0.00164	T	0.001939	0.03456	T	0.032	0.07718	.	.	0.207176502487	0.20327	0.10510204983775931	0.10440	0.0609194115591	0.06777	0.476411283016	0.35563	T	0.063618	0.32222	T	-0.482516	0.00715	T	-0.484892	0.23928	T	0.0163831568438932	0.00406	T	0.79842	0.44325	T	0.056384657	0.11086	0.065751374	0.13373	0.056384657	0.11085	0.065751374	0.13373	-3.394	0.30136	T	.	.	0.075	0.06250	B	.;.	.;.	2.997878	0.40049	21.1	0.8837635410603174	0.17928	0.79943	0.39717	D	AEFBI	0.311818	0.41744	N	-0.449051745403263	0.23772	1.278955	-0.250068929494993	0.29769	1.670555	0.0461011035521553	0.14677	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.15	4.23	0.49319	3.733000	0.54753	7.992000	0.76116	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.878000	0.41950	0.0876:0.1697:0.7427:0.0	8.019	0.29561	978	0.04198	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1458.98	36	chr9	83784720	.	G	A	1458.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.650e-01;DP=827;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.22;ReadPosRankSum=1.16;SOR=0.639	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr9	83891296	83891296	T	C	exonic	KIF27	.	nonsynonymous SNV	KIF27:NM_001271927:exon6:c.A1808G:p.K603R	.	.	438	1082	2	0	0	2	0.000923361	0.9997	0.962	2210450	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.37	T	0.996	D	0.99	D	0.000	D	1.000	D	1.95	M	0.75	T	-0.696	T	0.241	T	0.35	3.329	17.20	4.73	1.981	4.839	12.586	0.106	0.0187903755118	.	.	1.655e-05	0	0	0	0	1.501e-05	0	6.062e-05	0.0001537	4	26028	rs750925868	1.097e-05	1.094e-05	6.822e-06	1.517e-05	0.0002	6.5e-06	5.26e-06	3.034e-05	2.063e-05	0	0	0	0	0	0.0002	4.503e-06	6.638e-05	7.066e-05	6.564e-06	6.561e-06	0	1.342e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.157	0.25664	T	0.332	0.18449	T	0.996	0.68779	D	0.846	0.78936	P	0.000026	0.55875	D	0.000000	0.952693	0.37796	D	2.035	0.55589	M	0.75	0.50192	T	-1.21	0.30762	N	0.391	0.43223	-0.6960	0.60629	T	0.241	0.60893	T	10	0.26639718	0.44144	T	0.01879	0.40966	T	0.106	0.30130	0.2	0.11384	0.625049026612	0.62199	0.32311596480707483	0.32224	0.104354662582	0.11803	0.408090800047	0.26193	T	0.004978	0.04407	T	-0.22571	0.17220	T	-0.356487	0.38458	T	0.641431629657745	0.38097	D	0.761124	0.39255	T	0.15925287	0.35784	0.116814576	0.28199	0.15925287	0.35784	0.116814576	0.28198	-2.112	0.03636	T	.	.	0.088	0.17275	B	.;.;.	.;.;.	5.307652	0.89104	29.9	0.99813712715968439	0.89708	0.98379	0.82178	D	AEFGI	0.717919	0.66928	D	0.48559036014126	0.66248	4.925721	0.477872971387667	0.66527	4.963616	0.101694179520624	0.16388	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	4.73	4.73	0.59485	5.151000	0.64720	7.561000	0.60481	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	12.586	0.55771	976	0.04745	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	882.98	34	chr9	83891296	.	T	C	882.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.550;DP=736;ExcessHet=0.0000;FS=7.268;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.50;MQRankSum=-6.093e+00;QD=13.38;ReadPosRankSum=-1.990e+00;SOR=1.688	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1182	20	0	1	0
chr9	83903946	83903946	G	A	exonic	KIF27	.	nonsynonymous SNV	KIF27:NM_001271927:exon4:c.C572T:p.A191V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	1.0	D	0.996	D	0.000	D	1.000	D	1.955	M	-0.97	T	-0.083	T	0.554	D	0.574	4.530	24.4	5.57	2.610	7.921	19.550	0.468	0.036659094421	0.0002	0.000399361	4.951e-05	0.0005	8.642e-05	0	0	0	0	0	5.17e-05	8	154602	rs147985902	1.3e-05	1.368e-05	1.906e-05	6.876e-06	0.0005	8.31e-06	6.7e-06	0.0003	0.0003	0.0005	2.236e-05	0	0	0	0	0	1.656e-05	0	0.0001	0.0001	0.0002	0.0001	0.0005	9.74e-05	8.255e-05	0.0004	0.0003	0.0005	0	0	0	0	0	0	0	0	0	0.024	0.47745	D	0.13	0.45961	T	0.999	0.90584	D	0.996	0.84481	D	0.000025	0.55875	D	0.000000	0.999998	0.58761	D	1.995	0.54099	M	-0.97	0.75670	T	-2.68	0.57275	D	0.401	0.49237	-0.0825	0.80498	T	0.554	0.83696	D	10	0.24776182	0.42062	T	0.036659	0.57130	D	0.468	0.76289	.	.	0.858497711603	0.85713	0.32867383037715586	0.32780	0.378931172671	0.39296	0.576826691628	0.49639	T	0.274425	0.64692	T	-0.140262	0.29848	T	-0.109252	0.62670	T	0.498449239269053	0.32573	T	0.972803	0.90184	D	0.48599026	0.66262	0.3566567	0.61173	0.48599026	0.66263	0.3566567	0.61173	-8.819	0.66525	D	.	.	0.218	0.44822	B	.;.;.	.;.;.	4.603510	0.72932	25.9	0.99903057375569793	0.97426	0.98931	0.88793	D	AEFGI	0.918201	0.88692	D	0.737634732270912	0.82097	7.679346	0.729718837512137	0.84635	8.347219	0.999999996397651	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.57	5.57	0.84021	8.035000	0.89178	10.006000	0.83069	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	19.550	0.95308	980	0.04108	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1216.98	35	chr9	83903946	.	G	A	1216.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.423e+00;DP=789;ExcessHet=0.0000;FS=2.083;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.60;ReadPosRankSum=-9.950e-01;SOR=0.441	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1164	20	0	1	0
chr9	83908453	83908453	T	G	exonic	KIF27	.	nonsynonymous SNV	KIF27:NM_001354070:exon4:c.A17C:p.Q6P	.	.	.	.	.	.	.	.	.	0.9852	0.714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	299.98	30	chr9	83908453	.	T	G	299.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.166e+00;DP=568;ExcessHet=0.0000;FS=4.593;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.00;ReadPosRankSum=2.20;SOR=1.942	GT:AD:DP:GQ:PL	0/0:17,0:17:51:0,51,599	20	0	1	0
chr9	83944985	83944985	T	C	exonic	C9orf64	.	nonsynonymous SNV	C9orf64:NM_032307:exon3:c.A602G:p.K201R	.	.	431	1090	1	0	0	1	0.000458505	.	.	723639	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.58	T	0.046	B	0.04	B	0.000	D	1.000	D	1.285	L	.	.	-1.048	T	0.051	T	0.068	1.609	11.34	4.84	2.113	4.983	10.425	0.053	.	0.0114	0.00838658	0.0029	0.0325	0.0006	0	0	0.0001	0	0.0001	0.0027037	418	154602	rs73469357	0.0009	0.0009	0.0011	0.0007	0.0329	0.0009	0.0009	0.0313	0.0306	0.0329	0.0016	0	0	0	0.0005	5.792e-05	0.0021	8.373e-05	0.0088	0.0089	0.0090	0.0086	0.0302	0.0084	0.0083	0.0288	0.0282	0.0302	0	0.0041	0	0	0	0	0.0001	0.0104	0.0002	0.113	0.28772	T	0.177	0.29740	T	0.046	0.21875	B	0.04	0.23831	B	0.000002	0.62929	D	0.098334	0.999974	0.53665	D	.	.	.	.	.	.	-1.38	0.34198	N	0.143	0.14338	-1.0481	0.14932	T	0.051	0.21844	T	9	0.0044463873	0.00091	T	.	.	.	0.053	0.14996	.	.	0.386721274199	0.38283	0.48081522761330375	0.48001	0.323314107765	0.34500	.	.	.	0.008166	0.14841	T	-0.544354	0.00315	T	-0.530329	0.19253	T	0.0199034939373174	0.00691	T	0.775622	0.68343	T	0.28888226	0.51888	0.16553976	0.38290	0.28888226	0.51888	0.16553976	0.38289	-4.204	0.26809	T	.	.	0.069	0.04119	B	.;.	.;.	2.561906	0.33183	19.26	0.99004425446317557	0.50231	0.98517	0.83624	D	AEFGBI	0.733895	0.68019	D	-0.103163073873456	0.37254	2.164846	0.0713927685631413	0.43117	2.620191	0.157243765757195	0.17537	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.84	4.84	0.62125	4.946000	0.63276	2.275000	0.31858	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0783:0.0:0.9217	10.425	0.43559	971	0.05719	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	826.98	34	chr9	83944985	.	T	C	826.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.740e-01;DP=740;ExcessHet=0.0000;FS=1.167;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.51;ReadPosRankSum=-1.023e+00;SOR=1.038	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1197	20	0	1	0
chr9	84288056	84288056	C	T	exonic	SLC28A3	.	nonsynonymous SNV	SLC28A3:NM_001199633:exon12:c.G1272A:p.M424I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.004	B	0.017	B	0.000	D	0.972	D	-0.015	N	4.88	T	-0.726	T	0.004	T	0.223	2.190	13.28	4.69	2.786	1.387	7.144	0.074	0.00718256022586	0.0014	0.000798722	0.0003	0.0030	8.639e-05	0	0	0	0	0	0.0002329	36	154602	rs148078245	7.389e-05	7.456e-05	9.802e-05	4.951e-05	0.0027	6.249e-05	5.808e-05	0.0022	0.0020	0.0027	0.0001	0	0	0	0	2.698e-06	0.0002	0	0.0008	0.0008	0.0008	0.0007	0.0027	0.0007	0.0006	0.0023	0.0021	0.0027	0	0.0004	0	0	0	0	0	0.0005	0	0.208	0.19782	T	0.432	0.13634	T	0.004	0.12183	B	0.017	0.18140	B	0.000092	0.51296	D	0.231208	0.972342	0.38939	D	0.77	0.19370	N	4.88	0.01439	T	-1.01	0.26639	N	0.201	0.22228	-0.7259	0.59169	T	0.004	0.01192	T	10	0.004308611	0.00087	T	0.007183	0.19034	T	0.074	0.21613	0.266	0.21261	0.0401082797425	0.02173	0.39657761700676486	0.39572	0.242980448212	0.26804	0.444498717785	0.31192	T	0.003977	0.03383	T	-0.571482	0.00217	T	-0.599218	0.12877	T	0.0155978956467034	0.00356	T	0.627137	0.24302	T	0.33055374	0.55516	0.15073574	0.35537	0.33055374	0.55516	0.15073574	0.35537	-4.179	0.26447	T	.	.	0.209	0.43585	B	.	.	2.803196	0.36877	20.4	0.97294850411290712	0.33252	0.93619	0.58715	D	AEFI	0.431165	0.49357	N	-0.243285692504911	0.31372	1.758419	-0.00267342929923152	0.39596	2.350063	0.999646948844412	0.41316	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.6	4.69	0.58546	0.799000	0.26688	3.468000	0.38561	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.0:0.7091:0.147:0.1439	7.144	0.24751	957	0.09725	Concentrative nucleoside transporter C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1738.98	36	chr9	84288056	.	C	T	1738.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.786;DP=831;ExcessHet=0.0000;FS=0.652;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.60;ReadPosRankSum=-3.580e-01;SOR=0.619	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1106	20	0	1	0
chr9	84292723	84292723	G	A	exonic	SLC28A3	.	nonsynonymous SNV	SLC28A3:NM_001199633:exon10:c.C968T:p.T323M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.000	N	0.954	N	-2.32	N	5.06	T	-0.911	T	0.001	T	0.115	-0.780	0.731	3.77	0.551	5.853	13.868	0.171	0.00952724644799	0.0004	0.000599042	0.0001	0.0011	0.0002	0	0	0	0	6.578e-05	0.00011	17	154602	rs144797643	5.526e-05	5.951e-05	6.458e-05	4.583e-05	0.0012	4.52e-05	4.187e-05	0.0009	0.0008	0.0012	0.0002	0	0	0	0	1.716e-05	0.0002	3.597e-05	0.0003	0.0003	0.0003	0.0003	0.0011	0.0003	0.0002	0.0008	0.0007	0.0011	0	0.0001	0	0	0	0	2.94e-05	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000003	0.62929	N	0.160588	0.973623	0.26368	N	-2.56	0.00048	N	5.06	0.01260	T	4.75	0.00029	N	0.105	0.08925	-0.9112	0.46707	T	0.001	0.00378	T	10	0.006156087	0.00139	T	0.009527	0.24947	T	0.171	0.43483	.	.	0.0551355673512	0.04727	0.5814407685911789	0.58073	0.190368356995	0.21353	0.311374604702	0.12114	T	0.013098	0.11390	T	-0.583592	0.00183	T	-0.682553	0.06829	T	0.00828227964845612	0.00100	T	0.589041	0.21605	T	0.15320095	0.34738	0.1201493	0.28998	0.15320095	0.34737	0.1201493	0.28997	2.854	0.00024	T	.	.	0.042	0.00022	B	.	.	1.861642	0.23646	16.10	0.49617128577512715	0.04241	0.15846	0.19109	N	AEFBI	0.038758	0.05532	N	-1.10094925092511	0.06627	0.3055953	-0.759592662661289	0.15487	0.8147402	0.999998718279171	0.74766	0.497415	0.19182	0	0.468601	0.06657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.08	3.77	0.42499	5.877000	0.69421	8.097000	0.76542	-0.967000	0.01957	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.9343:0.0:0.0657:0.0	13.868	0.63097	923	0.18507	Nucleoside transporter/FeoB GTPase, Gate domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1282.98	38	chr9	84292723	.	G	A	1282.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.372;DP=810;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=-3.680e-01;SOR=0.659	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1104	20	0	1	0
chr9	84867350	84867350	A	G	exonic	NTRK2	.	nonsynonymous SNV	NTRK2:NM_001369534:exon12:c.A1468G:p.I490V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	1.0	D	0.997	D	0.000	D	1.000	D	1.275	L	-0.23	T	-0.512	T	0.349	T	0.405	1.117	9.554	5.89	2.254	8.962	10.620	0.309	0.0184464962829	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200871730	2.736e-06	2.736e-06	2.723e-06	2.75e-06	5.039e-05	6.4e-07	4.3e-07	8.35e-06	3.12e-06	0	0	0	5.039e-05	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.02034	T	0.776	0.12632	T	0.998	0.90584	D	0.995	0.86255	D	0.000000	0.84330	D	0.000000	0.99993	0.53665	D	1.35	0.33515	L	-0.69	0.72785	T	-0.06	0.10833	N	0.526	0.59816	-0.5121	0.68210	T	0.349	0.71305	T	10	0.28964126	0.46545	T	0.018446	0.40518	T	0.309	0.63055	0.328	0.31196	0.784957124479	0.78296	0.47912677484879196	0.47832	1.26128381631	0.82034	0.863442182541	0.91617	D	0.27188	0.64424	T	0.00695575	0.52609	T	-0.227785	0.51986	T	0.820296585559845	0.47794	D	0.827517	0.51562	T	0.15867409	0.35685	0.15201867	0.35786	0.15867409	0.35684	0.15201867	0.35785	-1.341	0.22152	T	.	.	0.133	0.66471	B	.;.;.;.;.;.	.;.;.;.;.;.	3.684425	0.52465	23.2	0.88904288835460088	0.18350	0.97985	0.78645	D	AEFDIJ	0.877742	0.80257	D	0.375931868083402	0.60120	4.197606	0.469525769686284	0.65979	4.892906	0.99999999940752	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.631631	0.49550	0	.	.	5.89	5.89	0.94758	8.591000	0.90611	8.194000	0.76796	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.9288:0.0:0.0712:0.0	10.620	0.44664	870	0.31527	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	985.98	34	chr9	84867350	.	A	G	985.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.256e+00;DP=795;ExcessHet=0.0000;FS=1.625;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.86;ReadPosRankSum=1.17;SOR=0.743	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1209	20	0	1	0
chr9	85547151	85547151	T	G	exonic	AGTPBP1	.	nonsynonymous SNV	AGTPBP1:NM_001286715:exon25:c.A3795C:p.E1265D	.	.	436	1065	21	0	0	21	0.0097629	.	.	2826179	not_provided|AGTPBP1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.48	T	0.002	B	0.004	B	0.001	D	1.000	D	-0.55	N	2.34	T	-0.992	T	0.010	T	0.046	0.874	8.545	2.29	1.089	0.171	6.560	0.031	0.00355621111511	0.0048	0.00299521	0.0048	0.0008	0.0042	0	0.0009	0.0071	0.0077	0.0021	0.0048835	755	154602	rs138412470	0.0057	0.0057	0.0058	0.0056	0.0134	0.0056	0.0056	0.0110	0.0101	0.0010	0.0053	0.0068	2.527e-05	0.0009	0.0134	0.0064	0.0068	0.0021	0.0041	0.0041	0.0045	0.0038	0.0069	0.0039	0.0038	0.0064	0.0062	0.0011	0	0.0042	0.0058	0.0002	0.0008	0.0068	0.0069	0.0057	0.0021	0.578	0.06891	T	1.0	0.01155	T	0.0	0.09854	B	0.001	0.10090	B	0.000653	0.42656	D	0.237618	0.739208	0.81001	D	-0.745	0.01742	N	2.33	0.16492	T	0.04	0.06488	N	0.086	0.06322	-0.9918	0.32141	T	0.010	0.03765	T	10	0.0020323396	0.00029	T	0.003556	0.08092	T	0.031	0.07369	0.095	0.01241	0.210429274316	0.20668	0.06835794157517444	0.06773	0.0499190563803	0.05480	0.397492229939	0.24720	T	0.044675	0.26888	T	-0.684849	0.00045	T	-0.75237	0.03395	T	0.00168903351854802	0.00017	T	0.784022	0.42156	T	0.051265713	0.09390	0.05631082	0.10038	0.05875675	0.11859	0.039692342	0.04121	-3.78	0.20581	T	.	.	0.067	0.02458	B	.;.;.;.	.;.;.;.	1.274184	0.16732	12.73	0.9036468242379625	0.19628	0.65813	0.32864	D	AEFGI	0.109382	0.21727	N	-0.567870922523877	0.19926	1.046693	-0.339500698144633	0.26835	1.484911	0.33460800686151	0.19521	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.03	2.29	0.27658	0.311000	0.19129	0.814000	0.21781	0.665000	0.62972	0.932000	0.32345	0.875000	0.27637	0.993000	0.69303	0.1833:0.0:0.2101:0.6066	6.560	0.21680	951	0.11083	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1627.98	33	chr9	85547151	.	T	G	1627.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.426e+00;DP=815;ExcessHet=0.0000;FS=4.448;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=0.308;SOR=0.396	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1398	20	0	1	0
chr9	85642896	85642896	T	A	exonic	AGTPBP1	.	nonsynonymous SNV	AGTPBP1:NM_001286715:exon12:c.A1389T:p.E463D	.	.	445	1076	1	0	0	1	0.000464468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.004	B	0.009	B	0.055	N	1.000	D	1.355	L	0.9	T	-1.086	T	0.063	T	0.11	1.590	11.27	4.49	0.971	1.418	11.407	0.072	.	.	0.00279553	0.0009	0	0	0.0108	0	0	0.0011	0.0009	0.0008279	128	154602	rs143779850	0.0003	0.0003	0.0003	0.0003	0.0084	0.0003	0.0003	0.0077	0.0074	0	0	0	0.0084	0	0	4.497e-06	0.0004	0.0010	0.0005	0.0005	0.0004	0.0006	0.0131	0.0004	0.0004	0.0106	0.0097	0	0	0	0	0.0131	0	0	1.47e-05	0.0005	0.0010	0.525	0.07521	T	0.575	0.11371	T	0.001	0.12183	B	0.005	0.14300	B	0.054589	0.22712	N	0.523236	1	0.81001	D	1.385	0.34509	L	0.9	0.45248	T	-0.3	0.14390	N	0.134	0.18784	-1.0863	0.06173	T	0.063	0.26101	T	10	0.0036588013	0.00067	T	.	.	.	0.072	0.21020	0.103	0.01643	0.440498838766	0.43668	0.18644531950493792	0.18562	0.152190323411	0.17174	0.424426198006	0.28445	T	0.074935	0.35059	T	-0.583062	0.00185	T	-0.597981	0.12981	T	0.0177193822870438	0.00502	T	0.735426	0.35200	T	0.051592115	0.09496	0.047734007	0.06941	0.050748624	0.09214	0.043760914	0.05519	-4.066	0.25216	T	.	.	0.086	0.28027	B	.;.;.;.	.;.;.;.	1.591566	0.20356	14.71	0.98581276401938123	0.43245	0.87787	0.47447	D	AEFGBI	0.223407	0.34777	N	-0.31778741594092	0.28471	1.570729	-0.145339303498211	0.33587	1.92288	0.894320989171106	0.25927	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.62	4.49	0.54177	1.250000	0.32453	0.910000	0.22619	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.0:0.0707:0.0:0.9293	11.407	0.49146	760	0.50470	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	625.98	33	chr9	85642896	.	T	A	625.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.760;DP=726;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.23;ReadPosRankSum=-1.070e-01;SOR=0.784	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1085	20	0	1	0
chr9	85741926	85741926	-	GGCGGCGGCGCTGGA	exonic	AGTPBP1	.	nonframeshift insertion	AGTPBP1:NM_001286715:exon1:c.36_37insTCCAGCGCCGCCGCC:p.A12_A13insSSAAA	.	.	239	1281	2	0	0	2	0.000780031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1404826334	0.0035	0.0029	0.0036	0.0035	0.0040	0.0035	0.0034	0.0039	0.0039	0.0007	0.0012	0	0	0.0003	0.0032	0.0040	0.0032	0.0002	0.0019	0.0019	0.0020	0.0017	0.0033	0.0017	0.0017	0.0030	0.0028	0.0007	0	0.0018	0	0.0002	9.517e-05	0	0.0033	0.0010	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	167.31	16	chr9	85741926	.	C	CGGCGGCGGCGCTGGA	167.31	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.190e-01;DP=297;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0386;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=15.21;ReadPosRankSum=-9.790e-01;SOR=1.022	GT:AD:DP:GQ:PL	0/0:7,0:7:15:0,15,225	19	0	1	1
chr9	85958584	85958584	A	C	exonic	NAA35	.	nonsynonymous SNV	NAA35:NM_001321881:exon4:c.A271C:p.K91Q	.	.	.	.	.	.	.	.	.	0.6939	0.714	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.419	B	0.082	B	0.000	D	1.000	D	0.11	N	.	.	-1.032	T	0.080	T	0.467	3.188	16.67	5.62	2.138	7.344	15.834	0.294	0.0082777809681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.365	0.19293	T	0.503	0.14116	T	0.419	0.35307	B	0.082	0.29098	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.485	0.13215	N	.	.	.	-0.38	0.19085	N	0.294	0.36148	-1.0317	0.19905	T	0.080	0.31645	T	9	0.15152252	0.28638	T	0.008278	0.21928	T	0.294	0.61388	0.568	0.69034	0.082315109003	0.07666	0.3342031210507255	0.33333	1.09167612201	0.77452	0.716168999672	0.69489	T	0.01474	0.12495	T	0.0226976	0.54745	T	-0.205173	0.54157	T	0.733058154582977	0.42369	D	0.922608	0.71859	D	0.28722066	0.51734	0.14664154	0.34733	0.28722066	0.51733	0.14664154	0.34732	-3.737	0.24564	T	.	.	0.087	0.15743	B	.;.	.;.	3.542885	0.49765	22.8	0.98445253126792909	0.41553	0.98555	0.84043	D	AEFGBI	0.888933	0.82254	D	-0.0638257547807607	0.38988	2.292	0.163492890845091	0.47861	3.010101	0.999999999938951	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.62	5.62	0.85714	7.025000	0.76187	7.972000	0.76042	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	1.0:0.0:0.0:0.0	15.834	0.78564	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1545.98	34	chr9	85958584	.	A	C	1545.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=788;ExcessHet=0.0000;FS=0.758;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.31;ReadPosRankSum=-2.100e-01;SOR=0.815	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1079	20	0	1	0
chr9	85996407	85996407	A	G	exonic	NAA35	.	nonsynonymous SNV	NAA35:NM_001321881:exon12:c.A886G:p.I296V	.	.	445	1071	5	1	0	7	0.00325733	.	.	2127241	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.51	T	0.012	B	0.007	B	0.000	D	1.000	D	1.245	L	.	.	-1.010	T	0.134	T	0.155	-0.517	1.637	4.17	0.974	6.109	11.226	0.198	0.00242355756045	0.0002	.	0.0002	0	0.0003	0.0001	0	0.0002	0	0.0001	0.0001358	21	154602	rs141991899	0.0002	0.0002	0.0001	0.0002	0.0046	0.0001	0.0001	0.0032	0.0028	3.222e-05	0.0002	3.99e-05	0	0	0.0046	0.0001	0.0003	0.0003	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	9.232e-05	0.0002	0.0001	4.81e-05	0	6.538e-05	0	0.0002	0	0	0.0002	0.0005	0.0006	0.655	0.04772	T	0.566	0.08930	T	0.012	0.16265	B	0.007	0.12992	B	0.000003	0.62929	D	0.059668	0.999996	0.58761	D	0.695	0.17993	N	.	.	.	0.03	0.06612	N	0.303	0.34228	-1.0099	0.26949	T	0.134	0.44700	T	9	0.06796369	0.09546	T	0.002424	0.04757	T	0.198	0.48105	.	.	0.043077524339	0.03247	0.14263039097096067	0.14186	0.677524429319	0.59829	0.733525693417	0.72022	T	0.010452	0.09434	T	-0.316587	0.07181	T	-0.39634	0.33810	T	0.034544492994106	0.02730	T	0.813419	0.46649	T	0.044897635	0.07256	0.048777625	0.07315	0.044897635	0.07255	0.048777625	0.07314	-3.264	0.13277	T	.	.	0.069	0.03197	B	.	.	2.702843	0.35308	19.86	0.45503580651537717	0.03576	0.93744	0.59067	D	AEBI	0.442678	0.50030	N	-0.346880784304105	0.27386	1.502176	-0.162045870945538	0.32946	1.87959	0.936501187776815	0.27257	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.31	4.17	0.48303	5.753000	0.68391	9.387000	0.80554	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9278:0.0:0.0722:0.0	11.226	0.48116	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	278.98	34	chr9	85996407	.	A	G	278.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=628;ExcessHet=0.0000;FS=3.666;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.45;ReadPosRankSum=1.82;SOR=1.609	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1049	20	0	1	0
chr9	86018822	86018822	G	C	splicing	NAA35	NM_001321881:exon21:c.2037+1G>C;NM_024635:exon21:c.2037+1G>C;NM_001321882:exon21:c.2037+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.765	19.11	5.5	2.594	9.672	19.387	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353356	0.86736	D	0.269795	0.86563	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.192679	0.94764	34	0.9954556175864131	0.70773	0.99856	0.99854	D	AEFBI	.	.	.	1.15891206100683	0.99082	20.59108	0.998694741300778	0.98602	18.76144	0.999999999999889	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.137589	0.03823	0	0.109871	0.03346	0	0.987846	0.96420	5.5	5.5	0.81386	9.434000	0.96726	11.731000	0.94998	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	19.387	0.94553	917	0.20147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	772.26	67	chr9	86018822	.	G	C	772.26	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-2.944e+00;DP=1493;ExcessHet=2.5830;FS=140.242;InbreedingCoeff=-0.2308;MLEAC=6;MLEAF=0.158;MQ=60.00;MQRankSum=0.00;QD=1.51;ReadPosRankSum=1.32;SOR=10.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,26:87:99:.:.:222,0,678	12	0	7	2
chr9	86035616	86035616	T	C	exonic	GOLM1	.	nonsynonymous SNV	GOLM1:NM_016548:exon8:c.A767G:p.N256S	.	.	442	1076	3	1	0	5	0.00231803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.004	B	0.007	B	0.200	N	1.000	N	1.445	L	1.06	T	-1.016	T	0.067	T	0.014	1.106	9.514	0.787	0.040	0.125	3.923	0.068	0.00563202042326	0.0005	.	0.0003	0.0011	8.706e-05	0.0006	0	0.0003	0.0011	0	0.0002846	44	154602	rs148028742	0.0002	0.0002	0.0002	0.0002	0.0047	0.0002	0.0002	0.0033	0.0028	0.0005	2.236e-05	0.0034	0.0002	0	0.0047	0.0001	0.0004	6.961e-05	0.0004	0.0004	0.0004	0.0003	0.0005	0.0003	0.0003	0.0003	0.0003	0.0005	0	0	0.0032	0.0002	0	0.0068	0.0003	0	0	0.149	0.24758	T	0.445	0.13140	T	0.004	0.12183	B	0.007	0.12992	B	0.200057	0.16623	N	0.648332	0.999999	0.08975	N	2.015	0.55033	M	1.06	0.39781	T	-1.69	0.40274	N	0.121	0.11197	-1.0160	0.25013	T	0.067	0.27468	T	10	0.0056729913	0.00126	T	0.005632	0.14560	T	0.068	0.19811	.	.	0.362960570912	0.35913	0.08601094802748246	0.08535	0.42604554479	0.42993	0.292014539242	0.09216	T	0.085685	0.37556	T	-0.595674	0.00155	T	-0.712694	0.05157	T	0.0032839411282092	0.00035	T	0.654835	0.26514	T	0.026163995	0.01640	0.031070549	0.01645	0.026163995	0.01639	0.031070549	0.01645	-2.971	0.09872	T	.	.	0.068	0.02829	B	.;.	.;.	0.714782	0.10837	7.516	0.98111084014264727	0.38351	0.08554	0.14467	N	AEFDBCI	0.056317	0.10403	N	-0.985208628733094	0.08919	0.4200684	-1.00855972354243	0.09596	0.4783423	0.954152607528739	0.28115	0.706548	0.73137	0	0.633656	0.55848	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.54	0.787	0.17740	0.144000	0.15956	0.305000	0.17021	-0.110000	0.15115	0.123000	0.23227	0.076000	0.22303	0.002000	0.04165	0.0:0.1962:0.1833:0.6205	3.923	0.08751	930	0.16408	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1350.98	33	chr9	86035616	.	T	C	1350.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.626;DP=798;ExcessHet=0.0000;FS=1.647;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.38;ReadPosRankSum=1.26;SOR=0.495	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1364	20	0	1	0
chr9	86036450	86036450	C	G	exonic	GOLM1	.	nonsynonymous SNV	GOLM1:NM_016548:exon7:c.G655C:p.E219Q	.	.	.	.	.	.	.	.	.	.	.	2201680	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.53	T	0.017	B	0.011	B	0.534	N	1.000	N	0.84	L	0.88	T	-1.035	T	0.066	T	0.085	1.454	10.81	-0.078	-0.009	0.192	5.292	0.023	0.00872306391358	0.0003	.	0.0002	9.612e-05	0.0007	0.0001	0.0008	0.0002	0.0022	0	0.000194	30	154602	rs144951895	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0001	0.0001	0.0003	3.826e-05	2.519e-05	0.0016	0.0002	0.0002	0.0002	3.478e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	9.047e-05	7.011e-05	0	0	0.0002	0	0	0.0013	0	0.0002	0	0	0.665	0.04629	T	0.488	0.11621	T	0.017	0.17573	B	0.011	0.15521	B	0.534195	0.05275	N	1.240920	1	0.08975	N	0.695	0.17993	N	0.88	0.46028	T	-0.21	0.10308	N	0.069	0.04188	-1.0346	0.18983	T	0.066	0.27087	T	10	0.011405915	0.00249	T	0.008723	0.23025	T	0.023	0.04649	.	.	0.28492961333	0.28089	0.08211539779850184	0.08146	0.131701140582	0.14851	0.294428676367	0.09573	T	0.042025	0.26049	T	-0.543002	0.00321	T	-0.689801	0.06400	T	0.0170612465590239	0.00453	T	0.472453	0.14032	T	0.031908702	0.03116	0.021054942	0.00170	0.031908702	0.03116	0.021054942	0.00170	-3.504	0.16487	T	.	.	0.089	0.12084	B	.;.	.;.	0.732144	0.11013	7.672	0.95688091230475014	0.27559	0.01776	0.05568	N	AEFDBI	0.051743	0.09171	N	-1.0737408188366	0.07131	0.330318	-1.11531904983525	0.07407	0.3601797	0.950666226141609	0.27909	0.706548	0.73137	0	0.633656	0.55848	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	4.19	-0.0784	0.13049	0.314000	0.19182	1.063000	0.23738	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.3407:0.4442:0.2152	5.292	0.15041	930	0.16408	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1756.98	37	chr9	86036450	.	C	G	1756.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.331;DP=866;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.27;ReadPosRankSum=1.06;SOR=0.695	GT:AD:DP:GQ:PL	0/1:94,77:171:99:1771,0,2225	20	0	1	0
chr9	86046538	86046538	C	G	exonic	GOLM1	.	nonsynonymous SNV	GOLM1:NM_016548:exon5:c.G399C:p.R133S	.	.	430	1064	28	0	0	28	0.012987	.	.	2826181	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.2	T	0.01	B	0.013	B	0.112	N	1.000	N	1.67	L	1.05	T	-1.043	T	0.053	T	0.18	2.943	15.81	0.305	0.065	-0.257	1.122	0.081	.	0.0018	0.00299521	0.0045	0.0009	0.0044	0	0	0.0029	0.005	0.0174	0.003564	551	154602	rs140984957	0.0030	0.0031	0.0026	0.0035	0.0160	0.0030	0.0029	0.0153	0.0150	0.0006	0.0026	0.0079	0	1.873e-05	0.0090	0.0022	0.0033	0.0160	0.0022	0.0022	0.0024	0.0020	0.0122	0.0020	0.0019	0.0097	0.0088	0.0010	0	0.0036	0.0078	0.0006	0	0.0068	0.0021	0.0052	0.0122	0.15	0.24661	T	0.092	0.39954	T	0.01	0.15535	B	0.013	0.16460	B	0.112196	0.19368	N	0.554792	0.99983	0.20203	N	1.525	0.38595	L	1.05	0.39990	T	-2.86	0.60188	D	0.217	0.24260	-1.0431	0.16383	T	0.053	0.22307	T	10	0.006363988	0.00144	T	.	.	.	0.081	0.23632	0.18	0.08751	0.221734844693	0.21761	0.05271433561658003	0.05213	0.152621739343	0.17216	0.287026971579	0.08491	T	0.422817	0.77377	T	-0.561682	0.00248	T	-0.56662	0.15760	T	0.011707742043697	0.00179	T	0.722728	0.33613	T	0.13586207	0.31516	0.09560074	0.22681	0.13586207	0.31516	0.09560074	0.22680	-3.213	0.12640	T	.	.	0.253	0.48807	B	.;.	.;.	2.344900	0.30055	18.32	0.99020940272567248	0.50569	0.12262	0.17160	N	AEFDBHCI	0.150962	0.27535	N	-0.681197705656371	0.16558	0.8446677	-0.672908185262094	0.17640	0.9388459	0.951063994106124	0.27934	0.706548	0.73137	0	0.670034	0.63936	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.87	0.305	0.15048	-0.302000	0.08259	-0.128000	0.11649	0.599000	0.40250	0.002000	0.15269	0.000000	0.08366	0.980000	0.58198	0.1526:0.4128:0.1482:0.2864	1.122	0.01620	924	0.18029	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1227.98	34	chr9	86046538	.	C	G	1227.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.636;DP=820;ExcessHet=0.0000;FS=3.463;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.77;ReadPosRankSum=-8.510e-01;SOR=0.721	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1170	20	0	1	0
chr9	86323072	86323072	G	C	exonic	TUT7	.	nonsynonymous SNV	TUT7:NM_001185074:exon9:c.C2309G:p.S770C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.994	D	0.000	D	1.000	D	0.975	L	0.66	T	-0.398	T	0.303	T	0.687	3.602	18.34	5.48	2.861	3.630	19.556	0.179	0.028740471742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	1.0	0.90584	D	0.994	0.82059	D	0.000154	0.49130	D	0.220851	0.904207	0.36246	D	2.215	0.62545	M	0.21	0.60610	T	-2.21	0.49684	N	0.448	0.68342	-0.3982	0.72084	T	0.303	0.67409	T	10	0.30388108	0.47916	T	0.02874	0.51367	D	0.179	0.44899	0.444	0.50139	0.239312915715	0.23560	0.2827960835067818	0.28192	0.707468071399	0.61491	0.380290567875	0.22297	T	0.050143	0.28509	T	0.111007	0.65456	D	-0.0783226	0.65026	T	0.948582470417023	0.62927	D	0.924208	0.72277	D	0.13598523	0.31541	0.15283899	0.35942	0.13598523	0.31541	0.15283899	0.35942	-5.926	0.45656	T	.	.	0.173	0.42067	B	.;.;.	.;.;.	4.710999	0.75686	26.4	0.99188849495856113	0.54906	0.91449	0.53556	D	AEFGBCI	0.550816	0.56314	D	0.590057878118778	0.72555	5.823982	0.608230509532505	0.75537	6.328024	0.999999772690786	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.48	5.48	0.80675	3.713000	0.54610	9.946000	0.82693	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	19.556	0.95339	595	0.68488	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2173.98	35	chr9	86323072	.	G	C	2173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=994;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=1.21;SOR=0.657	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr9	87681425	87681425	A	G	exonic	DAPK1	.	nonsynonymous SNV	DAPK1:NM_001288729:exon20:c.A2023G:p.I675V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.981	D	0.976	D	0.003	N	1.000	D	1.39	L	-0.18	T	-0.546	T	0.338	T	0.087	2.289	13.61	2.84	0.449	4.389	9.181	0.093	0.00936207457345	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs994479071	4.114e-06	4.788e-06	0	8.265e-06	0.0002	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.508e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.32929	T	0.137	0.34359	T	0.0	0.02946	B	0.001	0.04355	B	0.003454	0.34930	N	0.117168	0.999878	0.50225	D	1.875	0.49914	L	-0.24	0.66834	T	-0.34	0.13226	N	0.15	0.19995	-0.5462	0.66930	T	0.338	0.70453	T	10	0.17359844	0.32196	T	0.009362	0.24553	T	0.093	0.26882	0.378	0.39319	0.679853016295	0.67712	0.26808414311376805	0.26721	0.371218183123	0.38624	0.595810294151	0.52313	T	0.043713	0.26588	T	-0.150821	0.28183	T	-0.454421	0.27208	T	0.217751085758209	0.21351	T	0.812719	0.47377	T	0.021990517	0.00834	0.040169973	0.04279	0.021990517	0.00833	0.040169973	0.04279	-7.074	0.54573	T	.	.	0.108	0.32827	B	.;.;.;.;.;.	.;.;.;.;.;.	2.565165	0.33231	19.28	0.96594393498164455	0.30383	0.93855	0.59386	D	AEFDBI	0.498907	0.53282	N	-0.192519468218007	0.33446	1.897541	-0.105326389196979	0.35175	2.03191	0.997373910952413	0.35551	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.17	2.84	0.32241	4.103000	0.57517	1.544000	0.27247	-0.054000	0.16847	1.000000	0.71638	0.999000	0.35428	0.985000	0.61073	0.8506:0.0:0.1494:0.0	9.181	0.36302	865	0.32612	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1719.98	39	chr9	87681425	.	A	G	1719.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.526e+00;DP=903;ExcessHet=0.0000;FS=0.574;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.00;ReadPosRankSum=-8.800e-01;SOR=0.610	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1284	20	0	1	0
chr9	87707114	87707114	G	T	exonic	DAPK1	.	nonsynonymous SNV	DAPK1:NM_001288729:exon26:c.G4043T:p.G1348V	.	.	423	1082	17	0	0	17	0.00779459	.	.	751805	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.18	T	0.942	P	0.743	P	0.112	N	1.000	D	1.1	L	-0.27	T	-0.629	T	0.283	T	0.719	1.824	12.06	5.28	1.632	5.286	11.08	0.347	0.0207311267468	0.0008	0.000599042	0.0015	0.0001	0.0008	0	0	0.0016	0.0011	0.0038	0.0012742	197	154602	rs200514264	0.0009	0.0009	0.0008	0.0010	0.0041	0.0009	0.0009	0.0038	0.0036	8.961e-05	0.0005	0.0237	0	0	0.0012	0.0002	0.0023	0.0041	0.0007	0.0007	0.0008	0.0006	0.0019	0.0006	0.0006	0.0010	0.0007	7.224e-05	0	0.0003	0.0213	0	0	0	0.0003	0	0.0019	0.045	0.40832	D	0.009	0.66756	D	0.864	0.47514	P	0.743	0.55802	P	0.111944	0.19378	N	0.431882	1	0.81001	D	2.255	0.64187	M	-0.27	0.68181	T	-1.78	0.42001	N	0.339	0.50598	-0.6288	0.63622	T	0.283	0.65508	T	10	0.0066696703	0.00151	T	0.020731	0.43381	T	0.347	0.66863	.	.	0.857421745425	0.85604	0.5648824354393936	0.56415	0.531367912045	0.50637	0.381954789162	0.22533	T	0.249833	0.61985	T	-0.187504	0.22625	T	-0.0426333	0.67524	D	0.0772470739001699	0.09630	T	0.90321	0.66112	D	0.09096518	0.21301	0.11087199	0.26739	0.09096518	0.21301	0.11087199	0.26739	-4.194	0.28008	T	.	.	0.084	0.20469	B	.;.;.;.;.;.	.;.;.;.;.;.	3.896552	0.56728	23.8	0.98065498563405451	0.37983	0.99209	0.92840	D	AEFDBI	0.737505	0.68267	D	0.0746152147938147	0.45280	2.787252	0.0763741122150922	0.43364	2.639629	0.999999913876207	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	5.28	0.74118	6.330000	0.72881	7.501000	0.59489	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.089000	0.17737	0.0666:0.1282:0.8052:0.0	11.08	0.47273	952	0.10565	Death domain|Death domain|Death domain;Death domain|Death domain|Death domain;.;Death domain|Death domain|Death domain;Death domain|Death domain|Death domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1481.98	123	chr9	87707114	.	G	T	1481.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.067e+00;DP=926;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=-1.222e+00;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,105,1575	20	0	1	0
chr9	87886490	87886490	C	G	exonic	SPATA31E1	.	nonsynonymous SNV	SPATA31E1:NM_178828:exon4:c.C2003G:p.A668G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.039	B	0.015	B	0.004	N	1.000	N	-0.16	N	3.35	T	-1.000	T	0.008	T	0.083	-0.829	0.601	-1.18	-0.296	0.407	2.178	0.051	0.011031175253	.	.	1.656e-05	0	0	0	0	3.014e-05	0	0	1.29e-05	2	154602	rs754818397	4.105e-06	4.104e-06	2.723e-06	5.501e-06	2.987e-05	1.48e-06	9.7e-07	8.4e-07	5.7e-07	2.987e-05	2.236e-05	0	0	0	0	3.597e-06	0	0	6.573e-06	1.313e-05	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	0.057	0.46406	T	0.034	0.20480	B	0.015	0.17295	B	0.003939	0.00995	N	3.295210	1	0.08975	N	0.35	0.11930	N	3.35	0.05989	T	1.33	0.00912	N	0.065	0.03726	-0.9996	0.30030	T	0.008	0.02720	T	10	0.03286907	0.01448	T	0.011031	0.28229	T	0.051	0.14325	0.191	0.10171	0.0551355673512	0.04727	0.056906128338935345	0.05631	0.0114344192695	0.01068	0.403412640095	0.25544	T	0.001461	0.00916	T	-0.385013	0.02896	T	-0.775335	0.02597	T	0.048447615677477	0.05223	T	0.346065	0.07604	T	0.040153008	0.05680	0.040564466	0.04412	0.040153008	0.05680	0.040564466	0.04412	-2.913	0.09274	T	.	.	0.094	0.14385	B	.	.	0.097846	0.04999	1.557	0.14022454174517407	0.00295	0.00664	0.02871	N	AEFDBI	0.038349	0.05414	N	-1.40257697467321	0.02616	0.1157736	-1.4465947681616	0.02801	0.1295041	0.960511350773824	0.28494	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.13	-1.18	0.09122	-0.011000	0.12659	-20.000000	0.00162	0.401000	0.20554	0.040000	0.20979	0.000000	0.08366	0.004000	0.06068	0.2473:0.4252:0.0:0.3275	2.178	0.03631	957	0.09725	SPATA31/FAM205	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1348.98	55	chr9	87886490	.	C	G	1348.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.882e+00;DP=1090;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.25;ReadPosRankSum=0.116;SOR=0.700	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1233	20	0	1	0
chr9	88130057	88130057	C	T	exonic	SPATA31C2	.	nonsynonymous SNV	SPATA31C2:NM_001166137:exon4:c.G2980A:p.V994I	.	.	419	1092	11	0	0	11	0.00501139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00778754	0.0042	0	0.0002	0.0002	0	3.003e-05	0.0056	0.0300	0.003564	551	154602	rs369026353	0.0019	0.0019	0.0010	0.0028	0.0303	0.0018	0.0018	0.0293	0.0289	9e-05	6.744e-05	0	0.0002	0	0.0007	2.885e-05	0.0018	0.0303	0.0010	0.0010	0.0005	0.0015	0.0304	0.0009	0.0008	0.0264	0.0249	2.406e-05	0	6.541e-05	0	0	0	0	8.819e-05	0	0.0304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3612.98	300	chr9	88130057	.	C	T	3612.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=2970;ExcessHet=0.0000;FS=1.407;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=49.19;MQRankSum=-8.800e-01;QD=12.50;ReadPosRankSum=1.44;SOR=0.602	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr9	88132145	88132145	C	T	exonic	SPATA31C2	.	nonsynonymous SNV	SPATA31C2:NM_001166137:exon4:c.G892A:p.V298I	.	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0001	0.0011	0.0002	0	0	4.524e-05	0	0.0001	0.0002689	7	26028	rs642814	0.0001	0.0001	0.0001	8.963e-05	0.0014	9.356e-05	8.839e-05	0.0011	0.0010	0.0014	8.986e-05	3.838e-05	0	0	0.0002	8.292e-05	0.0002	1.16e-05	0.0006	0.0006	0.0005	0.0006	0.0017	0.0005	0.0004	0.0014	0.0013	0.0017	0	0.0002	0	0	0.0002	0	0.0001	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4041.98	39	chr9	88132145	.	C	T	4041.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.34;DP=1205;ExcessHet=0.0000;FS=2.551;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.59;MQRankSum=-1.823e+01;QD=9.76;ReadPosRankSum=9.000e-03;SOR=0.926	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr9	89038160	89038160	C	T	exonic	SHC3	.	nonsynonymous SNV	SHC3:NM_016848:exon11:c.G1489A:p.E497K,	.	.	426	1091	5	0	0	5	0.00228624	.	.	723650	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.928	P	0.136	B	0.000	N	1.000	D	2.285	M	-0.06	T	-0.708	T	0.186	T	0.265	1.865	12.19	3.33	0.889	4.737	11.977	0.252	0.0654973775711	0.0025	0.000599042	0.0035	0.0005	0.0003	0	0.0039	0.0043	0.0055	0.0057	0.00326	504	154602	rs149700558	0.0032	0.0032	0.0030	0.0033	0.0060	0.0031	0.0031	0.0056	0.0054	0.0005	0.0004	0.0003	0	0.0034	0.0016	0.0033	0.0024	0.0060	0.0022	0.0022	0.0021	0.0022	0.0036	0.0020	0.0019	0.0032	0.0031	0.0005	0	0.0005	0.0003	0.0004	0.0034	0	0.0036	0.0019	0.0033	0.001	0.78490	D	0.046	0.49942	D	0.928	0.51611	P	0.136	0.33270	B	0.000011	0.62929	N	0.113920	0.99997	0.53665	D	3.005	0.85968	M	-0.06	0.63568	T	-2.93	0.69714	D	0.3	0.33904	-0.7080	0.60051	T	0.186	0.53556	T	10	0.009997219	0.00224	T	0.065497	0.69595	D	0.252	0.56159	.	.	0.722683262886	0.72023	0.6451715599604749	0.64452	0.621399424811	0.56427	0.478847950697	0.35898	T	0.539416	0.84202	D	-0.351491	0.04633	T	-0.273943	0.47421	T	0.07195262147852	0.08922	T	0.811819	0.46320	T	0.3401257	0.56290	0.38423848	0.63369	0.3401257	0.56290	0.38423848	0.63369	-10.772	0.78393	D	.	.	0.235	0.55971	B	.;.	.;.	3.323778	0.45721	22.2	0.99191509467369188	0.54994	0.88925	0.49095	D	AEFDBI	0.456731	0.50847	N	-0.0526403030547023	0.39485	2.329198	-0.0913771089838705	0.35745	2.07171	0.999999165894088	0.74766	0.653281	0.48532	0	0.588015	0.36545	0	0.653264	0.51672	0	0.669	0.65921	0	.	.	5.15	3.33	0.37245	5.003000	0.63708	4.723000	0.44515	-0.233000	0.07663	1.000000	0.71638	1.000000	0.68203	0.038000	0.14061	0.0:0.8598:0.0:0.1402	11.977	0.52385	922	0.19044	SH2 domain|SH2 adaptor protein C, SH2 domain;SH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1205.98	39	chr9	89038160	.	C	T	1205.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=823;ExcessHet=0.0000;FS=0.727;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=0.753;SOR=0.597	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,108,1620	20	0	1	0
chr9	89045776	89045776	C	T	exonic	SHC3	.	nonsynonymous SNV	SHC3:NM_016848:exon9:c.G1171A:p.E391K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.919	P	0.184	B	0.045	N	1.000	D	1.39	L	1.64	T	-1.075	T	0.064	T	0.474	2.525	14.40	5.25	2.735	5.908	19.036	0.161	0.0146786134575	.	.	8.242e-06	9.614e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs751313718	2.736e-06	2.736e-06	0	5.5e-06	2.698e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	1.873e-05	0	2.698e-06	0	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.225	0.18626	T	0.78	0.04330	T	0.919	0.50927	P	0.184	0.35999	B	0.045493	0.23532	N	0.487586	0.99997	0.81001	D	2.6	0.76081	M	1.64	0.27822	T	-0.76	0.21215	N	0.347	0.38848	-1.0751	0.08328	T	0.064	0.26349	T	10	0.34265518	0.51293	T	0.014679	0.34954	T	0.161	0.41658	0.504	0.59770	0.565318601174	0.56196	0.25960077275333626	0.25874	0.421060064074	0.42620	0.426449477673	0.28723	T	0.297648	0.67024	T	-0.199113	0.20934	T	-0.342261	0.40088	T	0.79804527759552	0.46221	D	0.840116	0.51512	T	0.1888861	0.40407	0.1165951	0.28147	0.1888861	0.40407	0.1165951	0.28146	-4.848	0.35145	T	.	.	0.079	0.07272	B	.	.	4.000739	0.58953	24.0	0.99545615776095642	0.70773	0.99070	0.90786	D	AEFBI	0.815728	0.73763	D	0.270300031403528	0.54649	3.630069	0.316606094420373	0.56514	3.814959	0.999999999688276	0.74766	0.653281	0.48532	0	0.588015	0.36545	0	0.658983	0.55881	0	0.669	0.65921	0	.	.	5.25	5.25	0.73169	5.969000	0.70127	5.748000	0.49611	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.375000	0.26223	0.0:1.0:0.0:0.0	19.036	0.92959	928	0.17405	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2506.98	35	chr9	89045776	.	C	T	2506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.50;DP=886;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.41;ReadPosRankSum=-6.520e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1467	20	0	1	0
chr9	89349806	89349806	C	G	exonic	SECISBP2	.	nonsynonymous SNV	SECISBP2:NM_001354698:exon12:c.C1562G:p.T521S	Thyroid hormone metabolism, abnormal	.	0	1521	1	0	0	1	0.000328623	.	.	3320871	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.44	T	0.041	B	0.016	B	0.942	N	1.000	N	-1.5	N	-0.63	T	-1.019	T	0.083	T	0.037	-0.162	3.210	1.55	0.134	0.599	3.384	0.086	0.0175624148851	.	0.000199681	0.0003	0	0	0	0	0	0	0.0019	0.0002135	33	154602	rs550814477	8.551e-05	8.619e-05	4.356e-05	0.0001	0.0013	7.312e-05	6.815e-05	0.0011	0.0011	0	0	0	0	0	0	0	0.0002	0.0013	3.282e-05	3.281e-05	0	6.713e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.27	0.16038	T	0.76	0.04807	T	0.024	0.21357	B	0.005	0.17743	B	0.941917	0.07599	N	1.025690	1	0.08975	N	0.74	0.18910	N	-0.63	0.72011	T	-0.45	0.14782	N	0.146	0.16447	-1.0187	0.24139	T	0.083	0.32440	T	10	0.007213056	0.00164	T	0.017562	0.39307	T	0.086	0.25016	0.216	0.13643	0.442775082573	0.43898	0.06625155168573574	0.06564	0.0546562599264	0.06050	0.265461623669	0.05558	T	0.006302	0.05736	T	-0.547316	0.00303	T	-0.577973	0.14727	T	0.0194677687061118	0.00650	T	0.542346	0.18433	T	0.033515308	0.03585	0.025247328	0.00564	0.033515308	0.03585	0.025247328	0.00563	-2.568	0.06504	T	0.14885608612840498	0.17362	0.077	0.06617	B	.;.;.	.;.;.	0.083317	0.04887	1.473	0.48752709516563419	0.04094	0.13000	0.17605	N	AEFGBI	0.051651	0.09146	N	-1.22043069529135	0.04704	0.2128867	-1.15534262548349	0.06672	0.3219591	0.999925121467552	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.52	1.55	0.22356	0.739000	0.25841	-0.371000	0.09606	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.165:0.4211:0.3213:0.0926	3.384	0.06842	967	0.07127	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1488.98	33	chr9	89349806	.	C	G	1488.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=843;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.27;ReadPosRankSum=-8.790e-01;SOR=0.718	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1076	20	0	1	0
chr9	89358763	89358763	C	T	exonic	SECISBP2	.	nonsynonymous SNV	SECISBP2:NM_001354698:exon16:c.C2297T:p.T766I	Thyroid hormone metabolism, abnormal	.	0	1516	6	0	0	6	0.00197498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.004	B	0.001	B	0.959	N	1.000	N	0	N	-0.56	T	-0.891	T	0.188	T	0.123	0.861	8.486	2.66	0.618	0.812	13.560	0.170	0.035148064147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.119	0.48080	T	0.001	0.12183	B	0.0	0.04355	B	0.959390	0.07707	N	1.018230	0.999977	0.18612	N	0	0.06538	N	-0.56	0.71307	T	-0.78	0.21644	N	0.179	0.19325	-0.8914	0.48811	T	0.188	0.53797	T	10	0.08859378	0.15269	T	0.035148	0.56152	D	0.170	0.43303	0.312	0.28612	0.683753749391	0.68105	0.1995042124630451	0.19867	0.0638515777421	0.07113	0.316762596369	0.12931	T	0.020748	0.16281	T	-0.165252	0.25954	T	-0.47515	0.24963	T	0.147216981192795	0.16880	T	0.637336	0.25103	T	0.04467184	0.07183	0.0847377	0.19514	0.04467184	0.07182	0.0847377	0.19513	-6.457	0.51312	T	0.14188872421272308	0.16000	0.111	0.21390	B	.;.;.	.;.;.	2.237621	0.28571	17.84	0.97270122119149105	0.33130	0.21552	0.21442	N	AEFDBI	0.065462	0.12770	N	-0.785736338217086	0.13680	0.6757227	-0.731562866835215	0.16177	0.8544931	0.999941433504395	0.47345	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.59	2.66	0.30672	0.916000	0.28273	1.690000	0.28065	0.599000	0.40250	0.002000	0.15269	0.002000	0.18203	0.665000	0.33109	0.0:0.7013:0.2987:0.0	13.560	0.61249	974	0.05496	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1757.98	37	chr9	89358763	.	C	T	1757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.313e+00;DP=917;ExcessHet=0.0000;FS=8.848;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.65;ReadPosRankSum=-6.560e-01;SOR=0.269	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	20	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.935	H	-3.73	D	1.004	D	0.941	D	0.414	2.778	15.25	2.15	0.116	2.094	10.600	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	16167.74	344	chr9	92080918	.	G	C	16167.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.447e+00;DP=7903;ExcessHet=54.0936;FS=420.103;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.24;ReadPosRankSum=1.19;SOR=16.175	GT:AD:DP:GQ:PL	0/1:219,140:372:99:887,0,3742	0	0	21	0
chr9	92186775	92186775	C	G	exonic	PRSS47	.	nonsynonymous SNV	PRSS47:NM_001350291:exon4:c.G589C:p.G197R,	.	.	555	924	41	2	0	45	0.0237718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00738818	.	.	.	.	.	.	.	.	0.0016559	256	154602	rs75298708	0.0156	0.0005	0.0179	0.0133	0.0269	0.0122	0.0109	0.0206	0.0183	0.0250	0	0	0	0.0014	0.0269	0	0.0082	0.0109	0.0082	0.0082	0.0084	0.0080	0.0146	0.0079	0.0077	0.0118	0.0108	0.0013	0.0570	0.0067	0.0378	0.0133	0.0022	0.0340	0.0106	0.0095	0.0146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07895	50.83	2	chr9	92186775	.	C	G	50.83	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-6.190e-01;DP=105;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2341;MLEAC=3;MLEAF=0.079;MQ=60.00;MQRankSum=0.00;QD=5.08;ReadPosRankSum=0.619;SOR=0.307	GT:AD:DP:GQ:PL	0/0:6,0:6:18:0,18,175	17	1	1	2
chr9	92188556	92188556	G	-	exonic	PRSS47	.	frameshift deletion	PRSS47:NM_001350291:exon3:c.297delC:p.S100Pfs*70,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1006489853	0	6.361e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	7.221e-05	7.217e-05	6.423e-05	8.056e-05	0.0003	3.968e-05	3.125e-05	8.87e-05	5.281e-05	0	0	0.0003	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	103.31	2	chr9	92188555	.	AG	A	103.31	.	AC=2;AF=0.056;AN=36;DP=68;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.1773;MLEAC=2;MLEAF=0.056;MQ=60.00;QD=34.44;SOR=1.179	GT:AD:DP:GQ:PL	0/0:3,0:3:9:0,9,64	17	1	0	3
chr9	92318622	92318622	C	T	exonic	NOL8	.	nonsynonymous SNV	NOL8:NM_001330722:exon6:c.G482A:p.R161H	.	.	476	1026	17	3	0	23	0.0110843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.004	B	0.002	B	.	.	0.999	N	0.69	N	2.71	T	-1.045	T	0.049	T	0.243	1.470	10.86	-1.93	-0.587	-0.096	12.651	0.013	.	0.0046	0.00379393	0.0087	0.0017	0.0042	0	0.0100	0.0129	0.0117	0.0026	0.0073285	1133	154602	rs41277645	0.0076	0.0077	0.0077	0.0075	0.0105	0.0075	0.0074	0.0083	0.0083	0.0012	0.0046	0.0121	2.544e-05	0.0068	0.0105	0.0085	0.0077	0.0022	0.0061	0.0061	0.0061	0.0060	0.0090	0.0057	0.0056	0.0084	0.0081	0.0014	0.0417	0.0043	0.0141	0	0.0065	0.0068	0.0090	0.0095	0.0027	0.285	0.16793	T	0.393	0.22828	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	0.999294	0.21398	N	1.91	0.51138	L	2.49	0.44856	T	-1.2	0.41046	N	0.124	0.16028	-1.0449	0.15854	T	0.049	0.20947	T	9	0.0024565756	0.00037	T	.	.	.	0.013	0.01715	.	.	0.264547087235	0.26054	0.4168627501312173	0.41602	0.0630273627958	0.07016	0.245842188597	0.03343	T	0.00535	0.24182	T	-0.548503	0.00298	T	-0.551268	0.17205	T	0.0071528414580583	0.00082	T	0.106489	0.01237	T	0.030291647	0.02666	0.052772533	0.08761	0.030291647	0.02666	0.052772533	0.08760	-4.49	0.30757	T	.	.	0.077	0.09288	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.493128	0.19202	14.14	0.83054433844074205	0.14518	0.17030	0.19658	N	AEFBI	0.080389	0.16251	N	-1.06666239241809	0.07265	0.3369406	-0.973413847232161	0.10384	0.5226825	0.0982261939734063	0.16300	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	-1.93	0.07180	-0.110000	0.10794	-2.755000	0.03395	-0.908000	0.02283	0.353000	0.25784	0.000000	0.08366	0.975000	0.56047	0.0:0.3716:0.0:0.6284	12.651	0.56126	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	rs41277645	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1159.98	33	chr9	92318622	.	C	T	1159.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.630e-01;DP=812;ExcessHet=0.0000;FS=0.741;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=-6.220e-01;SOR=0.734	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1231	20	0	1	0
chr9	92332277	92332277	C	T	exonic	CENPP	.	nonsynonymous SNV	CENPP:NM_001012267:exon2:c.C215T:p.T72M,	.	.	.	.	.	.	.	.	.	.	.	3214923	CENPP-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.273	B	0.025	B	0.914	N	1.000	N	1.04	L	.	.	-1.014	T	0.047	T	0.161	1.874	12.23	-3.42	-0.406	-0.017	1.057	0.088	0.00171511684086	0.0025	0.000199681	0.0025	0.0014	0.0031	0	0.0020	0.0035	0.0033	0.0004	0.0025291	391	154602	rs150818648	0.0031	0.0031	0.0032	0.0029	0.0037	0.0030	0.0030	0.0036	0.0036	0.0007	0.0014	0	0	0.0019	0.0003	0.0037	0.0022	0.0004	0.0024	0.0024	0.0027	0.0021	0.0037	0.0022	0.0021	0.0033	0.0032	0.0013	0.0263	0.0010	0	0	0.0012	0	0.0037	0.0019	0	0.12	0.27904	T	0.031	0.53788	D	0.273	0.31830	B	0.025	0.20508	B	0.913925	0.07433	N	1.047120	1	0.08975	N	1.04	0.26193	L	.	.	.	-1.98	0.45769	N	0.223	0.25006	-1.0144	0.25529	T	0.047	0.20195	T	9	0.004699141	0.00099	T	0.001715	0.02856	T	0.088	0.25558	.	.	0.151104730317	0.14643	0.22143747676310072	0.22058	0.518581499259	0.49708	0.273312032223	0.06576	T	0.021612	0.23908	T	-0.510257	0.00500	T	-0.504772	0.21853	T	0.0364852906329134	0.03065	T	0.682432	0.30012	T	0.014493271	0.00096	0.054496653	0.09383	0.014493271	0.00095	0.054496653	0.09382	-4.977	0.36589	T	.	.	0.091	0.12938	B	.;.	.;.	1.244062	0.16399	12.52	0.95468417634710701	0.27013	0.01465	0.04892	N	AEFBI	0.025695	0.01804	N	-0.81307860153023	0.12976	0.6360832	-0.869970286276133	0.12809	0.6610004	0.247334690371519	0.18641	0.706298	0.61202	0	0.80507	0.99744	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.15	-3.42	0.04521	0.071000	0.14461	-1.484000	0.05335	0.589000	0.31548	0.000000	0.06391	0.000000	0.08366	0.994000	0.71098	0.3893:0.2011:0.2427:0.1668	1.057	0.01492	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1058.98	37	chr9	92332277	.	C	T	1058.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=782;ExcessHet=0.0000;FS=2.881;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=-4.350e-01;SOR=1.068	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	20	0	1	0
chr9	92459666	92459666	-	T	exonic	ASPN	.	frameshift insertion	ASPN:NM_017680:exon8:c.907dupA:p.I303Nfs*19,	.	.	438	1082	2	0	0	2	0.000923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	.	0.0008	0.0002	0.0004	0	0	0.0011	0.0022	0.0007	0.0006468	100	154602	rs756640697	0.0009	0.0010	0.0009	0.0009	0.0011	0.0009	0.0009	0.0010	0.0010	0.0001	0.0006	0.0021	0	5.619e-05	0.0002	0.0011	0.0008	0.0007	0.0005	0.0005	0.0006	0.0004	0.0008	0.0004	0.0004	0.0006	0.0006	9.64e-05	0	0.0004	0.0026	0	0	0	0.0008	0.0010	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2582.05	35	chr9	92459666	.	A	AT	2582.05	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.670e-01;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=26.35;ReadPosRankSum=0.754;SOR=0.736	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1130	20	1	0	0
chr9	92474746	92474748	TCA	-	exonic	ASPN	.	nonframeshift deletion	ASPN:NM_001193335:exon2:c.150_152del:p.D50del	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	0/0:36,0,0,0,0,0:36:99:0,99,1379,99,1379,1379,99,1379,1379,1379,99,1379,1379,1379,1379,99,1379,1379,1379,1379,1379	1	2	3	0
chr9	92474748	92474748	-	TCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.149_150insTGA:p.D50_E51insD	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	0/0:36,0,0,0,0,0:36:99:0,99,1379,99,1379,1379,99,1379,1379,1379,99,1379,1379,1379,1379,99,1379,1379,1379,1379,1379	1	2	3	0
chr9	92474748	92474748	-	TCATCATCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.149_150insTGATGATGA:p.D50_E51insDDD	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	0/0:36,0,0,0,0,0:36:99:0,99,1379,99,1379,1379,99,1379,1379,1379,99,1379,1379,1379,1379,99,1379,1379,1379,1379,1379	1	2	3	0
chr9	92474748	92474748	-	TCATCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.149_150insTGATGA:p.D50_E51insDD	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	0/0:36,0,0,0,0,0:36:99:0,99,1379,99,1379,1379,99,1379,1379,1379,99,1379,1379,1379,1379,99,1379,1379,1379,1379,1379	1	2	3	0
chr9	92656514	92656514	A	G	exonic	IPPK	.	nonsynonymous SNV	IPPK:NM_022755:exon3:c.T167C:p.V56A,	.	.	435	1086	1	0	0	1	0.000460193	.	.	2761430	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.31	T	0.939	P	0.645	P	0.000	D	1.000	D	1.65	L	1.56	T	-1.079	T	0.101	T	0.392	3.589	18.28	4.98	2.007	4.844	13.959	0.149	0.0119785267734	0.0002	.	1.647e-05	0	0	0	0	1.498e-05	0	6.057e-05	1.29e-05	2	154602	rs149366566	4.653e-05	4.72e-05	3.54e-05	5.777e-05	0.0003	3.728e-05	3.412e-05	0.0001	0.0001	0	2.236e-05	0	0	0	0.0003	3.598e-05	9.937e-05	0.0002	3.285e-05	3.283e-05	3.854e-05	2.69e-05	7.35e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0	0	0.155	0.24183	T	0.169	0.30534	T	0.939	0.52645	P	0.645	0.52270	P	0.000160	0.49130	D	0.139923	0.994857	0.42444	D	2.17	0.60663	M	1.56	0.29602	T	-1.18	0.30140	N	0.797	0.79310	-1.0787	0.07602	T	0.101	0.37468	T	10	0.53412914	0.63350	D	0.011979	0.30135	T	0.149	0.39377	.	.	0.043077524339	0.03247	0.4881629971587877	0.48736	1.46402968978	0.86419	0.742752671242	0.73378	T	0.068761	0.33540	T	-0.24915	0.14202	T	-0.393009	0.34200	T	0.395311266183853	0.28765	T	0.826617	0.49005	T	0.121540755	0.28578	0.14460962	0.34327	0.121540755	0.28578	0.14460962	0.34327	-7.822	0.59851	D	.	.	0.263	0.49740	B	.	.	4.437037	0.68853	25.3	0.99757968319205492	0.84851	0.92120	0.54989	D	AEFBI	0.475474	0.51930	N	0.357833052204367	0.59156	4.092557	0.379835668981194	0.60323	4.218554	0.999998841422224	0.74766	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.98	4.98	0.65679	5.227000	0.65134	11.028000	0.85030	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.959	0.63677	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2374.98	38	chr9	92656514	.	A	G	2374.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.443;DP=901;ExcessHet=0.0000;FS=4.185;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.43;ReadPosRankSum=1.01;SOR=1.017	GT:AD:DP:GQ:PL	0/1:89,102:191:99:2389,0,2046	20	0	1	0
chr9	92848388	92848388	G	T	exonic	ZNF484	.	nonsynonymous SNV	ZNF484:NM_001007101:exon4:c.C291A:p.N97K	.	.	426	1092	3	1	0	5	0.00228415	.	.	2264156	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.651	P	0.162	B	.	.	1.000	N	0.6	N	3.49	T	-1.008	T	0.007	T	0.041	-2.248	0.004	-0.183	-0.035	-1.634	2.274	0.054	0.00100189190759	0.0002	0.000599042	0.0002	0	0.0007	0	0	0.0002	0	0.0002	0.0002005	31	154602	rs143919816	0.0002	0.0002	0.0002	0.0002	0.0014	0.0001	0.0001	0.0007	0.0005	5.974e-05	0.0007	3.827e-05	0	0	0.0014	0.0002	0.0001	0.0003	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	8.717e-05	0.0001	9.901e-05	4.816e-05	0	0.0002	0	0	0	0	0.0002	0.0014	0.0002	0.325	0.24277	T	0.769	0.06903	T	0.651	0.40707	P	0.122	0.32387	B	.	.	.	.	1	0.08975	N	0.715	0.18665	N	3.49	0.06138	T	-1.12	0.28906	N	0.088	0.07398	-1.0079	0.27572	T	0.007	0.02558	T	9	0.013220847	0.00281	T	0.001002	0.01073	T	0.054	0.15330	0.295	0.25881	0.225902525712	0.22197	0.04767541770921431	0.04710	0.172812368073	0.19455	0.374264419079	0.21442	T	0.002199	0.01604	T	-0.665515	0.00058	T	-0.819098	0.01471	T	0.0242229658940866	0.01173	T	0.533547	0.19701	T	0.05729145	0.11382	0.049867306	0.07710	0.05729145	0.11382	0.049867306	0.07710	-1.468	0.01700	T	.	.	0.112	0.37727	B	.;.;.;.	.;.;.;.	0.423514	0.07943	4.650	0.7841034389725221	0.12289	0.00199	0.01145	N	AEFGBCI	0.022182	0.01077	N	-1.19299316966807	0.05105	0.2319648	-1.28725779318428	0.04602	0.2174522	0.0110276283730864	0.12119	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.94	-0.183	0.12631	-0.216000	0.09271	-0.239000	0.10608	-0.808000	0.03092	0.000000	0.06391	0.000000	0.08366	0.107000	0.18608	0.1147:0.3745:0.3195:0.1914	2.274	0.03846	976	0.04745	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1746.98	35	chr9	92848388	.	G	T	1746.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.760e+00;DP=850;ExcessHet=0.0000;FS=3.144;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=0.018;SOR=0.986	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1291	20	0	1	0
chr9	93308387	93308387	G	A	exonic	WNK2	.	nonsynonymous SNV	WNK2:NM_006648:exon27:c.G6319A:p.V2107I	.	.	422	1057	40	3	0	46	0.0212963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.882	P	0.238	B	0.002	N	1.000	D	1.04	L	0.09	T	-0.912	T	0.142	T	0.115	3.299	17.08	3.58	0.641	3.424	11.070	0.038	.	0.0052	0.00459265	0.0139	0.0154	0.0126	0	0.0018	0.0083	0.0177	0.0248	0.0041655	644	154602	rs61753907	0.0037	0.0037	0.0031	0.0043	0.0189	0.0036	0.0036	0.0181	0.0178	0.0093	0.0021	0.0040	0	0.0004	0.0181	0.0026	0.0041	0.0189	0.0051	0.0051	0.0049	0.0053	0.0159	0.0048	0.0047	0.0131	0.0120	0.0097	0.0044	0.0022	0.0052	0.0002	0.0004	0.0170	0.0032	0.0057	0.0159	0.225	0.18626	T	0.269	0.22426	T	0.68	0.41398	P	0.027	0.21085	B	0.001579	0.38612	N	0.176617	0.964912	0.81001	D	0.77	0.19370	N	-0.64	0.72125	T	-0.48	0.15782	N	0.066	0.08506	-0.9123	0.46569	T	0.142	0.46257	T	10	0.0041105747	0.00081	T	.	.	.	0.038	0.09825	.	.	0.284112513307	0.28011	0.07511304711046102	0.07447	0.111281827237	0.12551	0.329964995384	0.14929	T	0.042073	0.26065	T	-0.454325	0.01065	T	-0.410446	0.32173	T	0.00785497846881361	0.00092	T	0.776522	0.40920	T	0.051192675	0.09364	0.050252013	0.07850	0.047571544	0.08154	0.052882336	0.08800	-4.506	0.30967	T	.	.	0.080	0.07889	B	.;.	.;.	2.128572	0.27101	17.35	0.99328685768852176	0.59700	0.95908	0.66673	D	AEFBI	0.625359	0.60859	D	-0.0761293898034714	0.38442	2.251537	0.0413767641950699	0.41656	2.506365	0.99996638673327	0.48965	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	5.45	3.58	0.40133	3.571000	0.53586	2.039000	0.30291	0.676000	0.76740	1.000000	0.71638	0.969000	0.29651	0.988000	0.63387	0.1534:0.0:0.8466:0.0	11.070	0.47216	908	0.22609	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4054.11	40	chr9	93308387	.	G	A	4054.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.728;DP=978;ExcessHet=0.1072;FS=1.899;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.16;ReadPosRankSum=1.14;SOR=0.575	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	19	0	2	0
chr9	93317894	93317894	G	A	exonic	WNK2	.	nonsynonymous SNV	WNK2:NM_001282394:exon30:c.G6761A:p.R2254Q,	.	.	423	1095	3	1	0	5	0.0022779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.006	B	0.0	B	0.681	U	1.000	N	.	.	-0.33	T	-0.991	T	0.107	T	0.109	1.432	10.73	-7.82	-1.527	-1.341	9.016	0.045	0.00669846518553	.	0.000399361	0.0004	0	0	0	0	7.593e-05	0	0.0034	0.0002264	35	154602	rs535240023	9.371e-05	9.645e-05	5.673e-05	0.0001	0.0013	8.066e-05	7.529e-05	0.0011	0.0010	0	0.0001	0.0002	2.553e-05	0	0.0004	7.316e-06	0.0001	0.0013	5.252e-05	5.249e-05	2.569e-05	8.056e-05	0.0017	2.555e-05	1.829e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.371	0.11514	T	0.517	0.10572	T	0.006	0.13644	B	0.0	0.01387	B	0.680842	0.10260	U	0.769546	1	0.08975	N	0	0.06538	N	-0.33	0.68329	T	0.59	0.02558	N	0.113	0.10056	-0.9907	0.32424	T	0.107	0.38857	T	9	0.0050418377	0.00109	T	0.006698	0.17699	T	0.045	0.12272	0.242	0.17524	0.174091166621	0.17034	0.18107429933045505	0.18026	0.160302322173	0.18085	.	.	.	0.033459	0.22922	T	-0.548142	0.00299	T	-0.584772	0.14122	T	0.0245374294991443	0.01212	T	0.563744	0.19863	T	0.01929905	0.00458	0.025154276	0.00551	0.01929905	0.00458	0.025154276	0.00551	-3.94	0.22903	T	.	.	0.099	0.16843	B	.	.	-0.326759	0.02501	0.295	0.87538915959384367	0.17300	0.00262	0.01432	N	AEFDBI	0.059843	0.11331	N	-1.5221239691336	0.01705	0.07460957	-1.67269370439697	0.01263	0.05693797	0.967249661855321	0.28963	0.650006	0.45971	0	0.59043	0.45803	0	0.606735	0.37207	0	0.542086	0.14980	0	.	.	3.91	-7.82	0.01069	-1.767000	0.01893	-0.803000	0.07366	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2868:0.0:0.5942:0.1189	9.016	0.35335	916	0.20744	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2284.98	33	chr9	93317894	.	G	A	2284.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=877;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=-6.620e-01;SOR=0.719	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1329	20	0	1	0
chr9	93676716	93676716	-	ACCACCCCTGCCTCC	exonic	PHF2	.	nonframeshift insertion	PHF2:NM_005392:exon21:c.2955_2956insACCACCCCTGCCTCC:p.T996_S997insTPAST,	.	.	507	986	24	5	0	34	0.0169492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6675	.	0.0115	0	0	0	0	0.0076	0.02	0.0224	0.000461	12	26028	.	0.0102	0.0065	0.0089	0.0115	0.0303	0.0100	0.0099	0.0291	0.0286	0.0013	0.0043	0.0408	8.54e-05	0.0041	0.0225	0.0067	0.0121	0.0303	0.0095	0.0081	0.0076	0.0112	0.0273	0.0088	0.0085	0.0227	0.0210	0.0012	0	0.0074	0.0640	0.0008	0.0112	0.0139	0.0079	0.0133	0.0273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	585.48	95	chr9	93676716	.	T	TACCACCCCTGCCTCC	585.48	.	AC=1;AF=0.029;AN=34;BaseQRankSum=1.25;DP=1088;ExcessHet=0.0000;FS=2.587;InbreedingCoeff=-0.0770;MLEAC=1;MLEAF=0.029;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=0.604;SOR=0.955	GT:AD:DP:GQ:PL	./.:80,0:80:0:0,0,1829	16	0	1	4
chr9	94101750	94101750	A	G	exonic	PTPDC1	.	nonsynonymous SNV	PTPDC1:NM_001253829:exon7:c.A2198G:p.K733R	.	.	427	1094	1	0	0	1	0.00045683	0.9999	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.976	D	0.761	P	0.000	D	1.000	D	2.14	M	2.23	T	-1.093	T	0.086	T	0.535	4.029	20.7	5.33	2.015	6.062	14.496	0.091	0.0107102660429	.	0.000199681	0.0001	0	0	0	0	0	0	0.0008	9.06e-05	14	154602	rs546449405	3.097e-05	3.147e-05	1.781e-05	4.426e-05	0.0005	2.361e-05	2.108e-05	0.0004	0.0003	0	0	0	0	0	0	9.045e-07	6.667e-05	0.0005	1.971e-05	1.969e-05	1.286e-05	2.688e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.025e-05	0	0	0	0	0	0	0	0	0	0.0006	0.051	0.39334	T	0.089	0.42086	T	0.941	0.58310	P	0.462	0.56482	P	0.000000	0.84330	D	0.046904	1	0.81001	D	2.615	0.76484	M	2.23	0.18083	T	-1.14	0.29323	N	0.325	0.42931	-1.0925	0.05128	T	0.086	0.33522	T	10	0.05195266	0.05154	T	0.01071	0.27557	T	0.091	0.26358	0.23	0.15705	0.477219869099	0.47349	0.42584105147026036	0.42501	0.458275355136	0.45440	0.501431822777	0.39028	T	0.049501	0.28324	T	-0.326997	0.06342	T	-0.345574	0.39712	T	0.22403761335015	0.21664	T	0.873813	0.58316	D	0.14261223	0.32812	0.17152713	0.39341	0.14261223	0.32811	0.17152713	0.39340	-3.918	0.22572	T	.	.	0.137	0.34558	B	.;.;.;.	.;.;.;.	4.068279	0.60425	24.2	0.99808406688701901	0.89264	0.99435	0.95993	D	AEFBI	0.799298	0.72560	D	0.51484392274159	0.67966	5.152849	0.516880474123631	0.69126	5.316	0.99999665745647	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.33	5.33	0.75683	6.058000	0.70754	7.986000	0.76093	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	1.0:0.0:0.0:0.0	14.496	0.67272	871	0.31377	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1692.98	35	chr9	94101750	.	A	G	1692.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.770e+00;DP=838;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.54;ReadPosRankSum=-4.050e-01;SOR=0.716	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1320	20	0	1	0
chr9	94320521	94320521	G	A	exonic	NUTM2F	.	nonsynonymous SNV	NUTM2F:NM_017561:exon5:c.C1055T:p.A352V,	.	.	444	1075	3	0	0	3	0.0013934	.	.	3352606	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.59	T	0.008	B	0.003	B	.	.	1.000	N	0	N	2.78	T	-0.982	T	0.022	T	0.098	-0.612	1.277	-0.39	-0.697	-0.393	1.464	0.009	0.00153274722433	0.0004	.	0.0005	0	0.0004	0	0	0.0007	0.0012	0.0006	0.0004204	65	154602	rs200093724	0.0003	0.0003	0.0003	0.0003	0.0029	0.0003	0.0003	0.0017	0.0013	2.994e-05	0.0004	0.0056	5.038e-05	1.881e-05	0.0029	0.0002	0.0007	0.0005	0.0002	0.0002	0.0002	0.0003	0.0004	0.0002	0.0002	0.0001	9.899e-05	0	0	0	0.0060	0	0	0	0.0002	0.0005	0.0004	0.53	0.22400	T	0.598	0.28120	T	0.008	0.14655	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	-0.11	0.04642	N	2.78	0.11947	T	-0.29	0.26843	N	0.129	0.12341	-0.9823	0.34468	T	0.022	0.09467	T	9	0.005663842	0.00126	T	0.001533	0.02394	T	0.009	0.00846	.	.	0.0138822411134	0.00435	0.03919068401637067	0.03865	.	.	0.380668848753	0.22351	T	6.64E-4	0.00291	T	-0.61487	0.00118	T	-0.778263	0.02507	T	0.00561401504082442	0.00061	T	0.449655	0.12671	T	0.019409144	0.00471	0.029585129	0.01313	0.019409144	0.00471	0.029585129	0.01313	-7.584	0.58199	D	.	.	0.080	0.07602	B	.;.	.;.	-0.007846	0.04228	1.039	0.61334315276356288	0.06683	0.00354	0.01821	N	AEFI	0.031894	0.03500	N	-1.60033334962432	0.01263	0.05494734	-1.67554149356455	0.01249	0.05630762	1.82899882011972E-6	0.01202	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.195	-0.39	0.11830	-0.839000	0.04475	.	.	-0.349000	0.05595	0.000000	0.06391	.	.	0.003000	0.05239	0.3195:0.0:0.3429:0.3376	1.464	0.02257	917	0.20147	Nuclear Testis  protein, N-terminal;Nuclear Testis  protein, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	292.98	27	chr9	94320521	.	G	A	292.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.415e+00;DP=688;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.01;MQRankSum=-1.041e+00;QD=8.14;ReadPosRankSum=2.14;SOR=0.954	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1315	20	0	1	0
chr9	94320560	94320560	G	A	exonic	NUTM2F	.	nonsynonymous SNV	NUTM2F:NM_017561:exon5:c.C1016T:p.P339L,	.	.	542	974	5	1	0	7	0.00358056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.487	P	0.037	B	.	.	1.000	N	0.55	N	2.79	T	-1.056	T	0.026	T	0.15	-0.894	0.451	-2.4	-1.238	0.027	3.933	0.017	.	0.0009	0.00459265	0.0054	0	0.0008	0.0003	0.0005	0.0027	0.0049	0.0221	0.00146	38	26028	rs201095237	0.0022	0.0022	0.0017	0.0027	0.0189	0.0021	0.0021	0.0181	0.0178	0.0001	0.0008	0.0351	7.563e-05	0	0.0041	0.0003	0.0036	0.0189	0.0019	0.0019	0.0018	0.0021	0.0193	0.0018	0.0017	0.0161	0.0149	0.0001	0	0.0012	0.0386	0.0004	0	0.0034	0.0005	0.0028	0.0193	0.205	0.20002	T	0.355	0.18449	T	0.487	0.36886	P	0.037	0.23121	B	.	.	.	.	1	0.08975	N	0.97	0.24054	L	2.79	0.11839	T	-1.92	0.47683	N	0.129	0.12341	-1.0556	0.12882	T	0.026	0.11087	T	9	0.0039569736	0.00076	T	.	.	.	0.017	0.02790	.	.	0.0138822411134	0.00435	0.05624359009987112	0.05565	.	.	0.374657034874	0.21497	T	0.016144	0.13402	T	-0.666839	0.00057	T	-0.715708	0.05005	T	0.00377218578939083	0.00040	T	0.608739	0.24237	T	0.025171801	0.01426	0.03792947	0.03550	0.025171801	0.01425	0.03792947	0.03549	-5.655	0.43291	T	.	.	0.075	0.09288	B	.;.	.;.	1.304249	0.17066	12.94	0.30819484925188778	0.01705	0.00342	0.01773	N	AEFI	0.026488	0.01998	N	-1.32858351357419	0.03352	0.1495953	-1.49041234483898	0.02422	0.1113858	5.57576795787796E-6	0.01202	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	1.2	-2.4	0.06204	-1.468000	0.02456	-20.000000	0.00162	-0.612000	0.04583	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3561:0.3502:0.2936	3.933	0.08794	917	0.20147	Nuclear Testis  protein, N-terminal;Nuclear Testis  protein, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	826.11	19	chr9	94320560	.	G	A	826.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.93;DP=543;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=53.63;MQRankSum=1.53;QD=17.21;ReadPosRankSum=-3.170e-01;SOR=0.758	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1230	19	0	2	0
chr9	94567310	94567310	G	A	exonic	FBP2	.	nonsynonymous SNV	FBP2:NM_003837:exon5:c.C665T:p.A222V,	.	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.528	P	0.022	B	0.000	D	1.000	D	1.57	L	-0.63	T	-0.563	T	0.249	T	0.221	3.864	19.63	5.15	2.397	6.548	18.622	0.154	.	7.7e-05	0.00259585	0.0016	0	0	0	0	0.0001	0.0011	0.0108	0.0013519	209	154602	rs371546490	0.0006	0.0006	0.0003	0.0008	0.0083	0.0005	0.0005	0.0078	0.0076	2.987e-05	0	0	0	1.873e-05	0.0007	5.845e-05	0.0008	0.0083	0.0003	0.0003	0.0002	0.0004	0.0089	0.0002	0.0002	0.0068	0.0061	0	0	6.541e-05	0	0.0002	0	0	5.881e-05	0	0.0089	0.056	0.38185	T	0.12	0.35970	T	0.528	0.37661	P	0.022	0.19653	B	0.000009	0.62929	D	0.149301	0.999945	0.51968	D	1.86	0.49225	L	-0.63	0.72011	T	-1.44	0.35399	N	0.347	0.38848	-0.5633	0.66278	T	0.249	0.61843	T	10	0.009168446	0.00207	T	.	.	.	0.154	0.40340	.	.	0.788080071805	0.78611	0.45609203435718865	0.45527	0.134054930346	0.15102	0.308921128511	0.11745	T	0.200176	0.55768	T	-0.398525	0.02368	T	-0.337554	0.40622	T	0.114990932364849	0.13933	T	0.555444	0.19245	T	0.25594115	0.48631	0.17221761	0.39460	0.25594115	0.48631	0.17221761	0.39459	-6.723	0.51984	T	.	.	0.099	0.16538	B	.	.	3.085388	0.41523	21.4	0.99717971453348231	0.81843	0.97862	0.77688	D	AEFBI	0.884875	0.81492	D	0.251306478898546	0.53702	3.538114	0.36793024414813	0.59596	4.138696	0.999999999502144	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.536957	0.11973	0	0.542086	0.14980	0	.	.	5.15	5.15	0.70287	7.924000	0.86974	5.034000	0.46851	-0.109000	0.15193	1.000000	0.71638	0.998000	0.33993	0.132000	0.19645	0.0:0.0:1.0:0.0	18.622	0.91282	861	0.33516	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	893.98	35	chr9	94567310	.	G	A	893.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.548;DP=799;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.05;ReadPosRankSum=1.76;SOR=0.723	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1100	20	0	1	0
chr9	94567343	94567343	C	T	exonic	FBP2	.	nonsynonymous SNV	FBP2:NM_003837:exon5:c.G632A:p.S211N,	.	.	420	1078	24	0	0	24	0.0110092	.	.	1291939	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.925	P	0.756	P	0.000	D	1.000	D	3.405	M	-1.06	T	0.463	D	0.592	D	0.389	4.764	26.7	5.15	2.397	7.627	18.622	0.786	0.264523765677	0.0049	0.00219649	0.0049	0.0006	0.0032	0.0001	0.0017	0.0072	0.0099	0.0029	0.0048641	752	154602	rs61755092	0.0060	0.0060	0.0059	0.0060	0.0180	0.0058	0.0058	0.0152	0.0142	0.0012	0.0041	0.0067	2.519e-05	0.0018	0.0180	0.0067	0.0062	0.0032	0.0051	0.0051	0.0055	0.0047	0.0082	0.0048	0.0047	0.0076	0.0074	0.0012	0	0.0061	0.0081	0	0.0013	0.0102	0.0082	0.0080	0.0035	0.012	0.54683	D	0.01	0.65728	D	0.925	0.51395	P	0.756	0.56253	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.635	0.94052	H	-1.06	0.76819	T	-2.88	0.60507	D	0.925	0.92901	0.463	0.90023	D	0.592	0.85425	D	10	0.07704571	0.12111	T	0.264524	0.89639	D	0.786	0.92908	.	.	0.899524071798	0.89852	0.8972708646526822	0.89698	0.538909183156	0.51137	0.646869003773	0.59541	T	0.690878	0.91011	D	-0.248522	0.14281	T	-0.119373	0.61855	T	0.0570662658978449	0.06698	T	0.939106	0.77081	D	0.86085653	0.88151	0.5041288	0.71337	0.86085653	0.88153	0.5041288	0.71337	-13.102	0.89778	D	.	.	0.990	0.93631	P	.	.	4.692326	0.75201	26.3	0.99407335652157547	0.63122	0.97903	0.78000	D	AEFBI	0.950494	0.96418	D	0.840098062821124	0.88536	9.615741	0.790398461049065	0.89117	9.845452	0.999999999502144	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.536957	0.11973	0	0.530356	0.10902	0	.	.	5.15	5.15	0.70287	7.713000	0.83653	7.548000	0.60216	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.622	0.91282	861	0.33516	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	948.98	35	chr9	94567343	.	C	T	948.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.180;DP=792;ExcessHet=0.0000;FS=0.786;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=0.598;SOR=0.670	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1100	20	0	1	0
chr9	95107185	95107185	C	T	exonic	FANCC	.	nonsynonymous SNV	FANCC:NM_000136:exon14:c.G1414A:p.G472R	Fanconi anemia, complementation group C, Autosomal recessive	.	1	1516	5	0	0	5	0.00164636	.	.	138038	not_provided|Hereditary_cancer-predisposing_syndrome|Fanconi_anemia|Fanconi_anemia_complementation_group_C|not_specified	MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645,Orphanet:84|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.2	T	0.053	B	0.073	B	0.126	N	1.000	N	1.5	L	0.81	T	-0.996	T	0.113	T	0.12	2.857	15.52	2.75	0.518	0.369	10.918	0.046	0.00603868157937	.	0.000199681	0.0004	0	0.0003	0	0	4.515e-05	0	0.0026	0.0003363	52	154602	rs201063698	0.0002	0.0002	9.392e-05	0.0003	0.0026	0.0002	0.0002	0.0023	0.0022	2.987e-05	4.472e-05	7.652e-05	0	0	0.0010	3.417e-05	0.0001	0.0026	8.535e-05	8.53e-05	2.569e-05	0.0001	0.0017	4.953e-05	3.96e-05	0.0008	0.0006	0	0	6.533e-05	0.0006	0	0	0	1.47e-05	0.0005	0.0017	0.107	0.29554	T	0.141	0.33442	T	0.053	0.22573	B	0.073	0.28123	B	0.126382	0.18806	N	0.508000	1	0.08975	N	1.5	0.37844	L	0.81	0.48460	T	-2.0	0.46146	N	0.131	0.12627	-0.9955	0.31164	T	0.113	0.40445	T	10	0.007597208	0.00173	T	0.006039	0.15787	T	0.046	0.12618	0.554	0.67133	0.663271509172	0.66044	0.09376529359446116	0.09308	0.300820576004	0.32437	0.294713020325	0.09615	T	0.196043	0.55230	T	-0.57642	0.00203	T	-0.606001	0.12312	T	0.0388088933990968	0.03477	T	0.40106	0.10202	T	0.071426064	0.15813	0.095814675	0.22741	0.071426064	0.15813	0.095814675	0.22741	-3.542	0.17025	T	0.21363018038664924	0.28689	0.112	0.22098	B	.;.	.;.	1.129375	0.15156	11.63	0.99647588466187975	0.77068	0.10165	0.15746	N	AEFDGBHCI	0.047065	0.07885	N	-0.784304407345072	0.13717	0.6778491	-0.832340421141015	0.13712	0.712856	0.999999285752186	0.74766	0.626454	0.40138	0	0.653731	0.59785	0	0.80507	0.99327	0	0.692231	0.68500	0	.	.	4.67	2.75	0.31439	0.402000	0.20690	0.518000	0.19139	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6313:0.3687:0.0	10.918	0.46359	167	0.93508	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	1574.98	34	chr9	95107185	.	C	T	1574.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.206;DP=852;ExcessHet=0.0000;FS=0.615;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=-1.006e+00;SOR=0.617	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1291	20	0	1	0
chr9	95469137	95469137	C	G	exonic	PTCH1	.	nonsynonymous SNV	PTCH1:NM_001354918:exon13:c.G1708C:p.V570L	Basal cell carcinoma, somatic;Basal cell nevus syndrome, Autosomal dominant;Holoprosencephaly 7, Autosomal dominant	YES	0	1521	1	0	0	1	0.000328623	.	.	566045	Gorlin_syndrome|See_cases|PTCH1-related_disorder|not_provided|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0007187,MedGen:C0004779,OMIM:PS109400,Orphanet:377|.|.|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.29	T	0.601	P	0.334	B	0.000	D	1.000	D	2.425	M	-2.69	D	0.428	D	0.738	D	0.55	3.600	18.33	5.51	2.586	7.394	19.420	0.508	0.113178971592	.	.	1.653e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs765258547	1.779e-05	1.779e-05	1.225e-05	2.338e-05	0.0001	1.237e-05	1.051e-05	7.997e-05	6.236e-05	0	0	0	0	0	0	1.169e-05	1.656e-05	0.0001	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.035	0.44358	D	0.119	0.36101	T	0.277	0.39346	B	0.158	0.42203	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.045	0.56016	M	-2.71	0.90622	D	-1.55	0.41809	N	0.666	0.69387	0.428	0.89510	D	0.738	0.91029	D	10	0.3622725	0.52826	T	0.113179	0.79159	D	0.508	0.78848	0.431	0.48007	0.55347300972	0.55005	0.6577285813386012	0.65709	0.597372302995	0.54935	0.773280441761	0.77916	T	0.449426	0.79093	T	-0.013744	0.49739	T	-0.0208503	0.68972	D	0.25146296623296	0.22938	T	0.907909	0.71446	D	0.31692427	0.54379	0.27072743	0.52966	0.31692427	0.54379	0.27072743	0.52965	-11.078	0.80496	D	0.3990898662555778	0.49118	0.749	0.75012	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.122737	0.61634	24.4	0.9957970483519929	0.72921	0.99807	0.99597	D	AEFDBI	0.902253	0.84993	D	0.349131819777149	0.58694	4.043214	0.440012433563282	0.64079	4.654927	0.999999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.51	5.51	0.81769	7.475000	0.80038	7.513000	0.59647	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	19.420	0.94711	358	0.85037	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1646.98	34	chr9	95469137	.	C	G	1646.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.162e+00;DP=835;ExcessHet=0.0000;FS=2.587;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=-4.740e-01;SOR=1.000	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr9	95508310	95508310	T	A	exonic	PTCH1	.	nonsynonymous SNV	PTCH1:NM_000264:exon1:c.A52T:p.S18C	Basal cell carcinoma, somatic;Basal cell nevus syndrome, Autosomal dominant;Holoprosencephaly 7, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1934223	Gorlin_syndrome	MONDO:MONDO:0007187,MedGen:C0004779,OMIM:PS109400,Orphanet:377	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.03	D	0.025	B	0.012	B	.	.	1.000	D	0	N	-2.71	D	-0.724	T	0.419	T	0.162	1.000	9.084	-0.749	-0.527	0.224	7.701	0.244	0.587185741406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.005e-06	4.105e-06	0	8.211e-06	8.744e-05	1.17e-06	8.5e-07	3.385e-05	2.153e-05	0	0	0	0	0	0	0	0	8.744e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.29823	T	0.042	0.50226	D	0.025	0.19245	B	0.012	0.16012	B	.	.	.	.	1	0.81001	D	0	0.06538	N	-2.71	0.90566	D	-0.26	0.11185	N	0.123	0.11483	-0.7241	0.59259	T	0.419	0.76476	T	9	0.107210785	0.19905	T	0.587186	0.96321	D	0.244	0.55061	0.325	0.30711	0.41960043425	0.41580	0.4012131813147003	0.40036	0.534996512572	0.50888	0.909535169601	0.97426	D	0.204289	0.56301	T	-0.28552	0.10090	T	-0.319946	0.42580	T	0.0149029916644772	0.00317	T	0.364364	0.08448	T	0.059469163	0.12091	0.068636276	0.14361	0.059469163	0.12091	0.068636276	0.14360	-4.41	0.29693	T	.	.	0.096	0.15160	B	.	.	2.250493	0.28748	17.90	0.83801257912541061	0.14927	0.53848	0.29471	D	AEFDGBHCI	0.196125	0.32312	N	-0.972549002562503	0.09193	0.4340892	-0.906250371987617	0.11947	0.6117139	0.999999736730378	0.74766	0.524318	0.21684	1	0.56911	0.20461	1	0.166054	0.03999	2	0.621717	0.48901	0	.	.	2.52	-0.749	0.10525	0.166000	0.16400	-0.864000	0.07130	0.257000	0.18371	0.151000	0.23669	0.001000	0.17328	0.573000	0.30723	0.0:0.7203:0.0:0.2797	7.701	0.27791	358	0.85037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	636.98	27	chr9	95508310	.	T	A	636.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.26;DP=720;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.33;ReadPosRankSum=0.282;SOR=0.638	GT:AD:DP:GQ:PL	0/0:43,0:43:90:0,90,1350	20	0	1	0
chr9	96523388	96523388	T	C	exonic	CDC14B	.	nonsynonymous SNV	CDC14B:NM_001077181:exon11:c.A1007G:p.Y336C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.004	B	0.012	B	0.034	N	0.673	D	1.61	L	1.95	T	-1.052	T	0.042	T	0.218	1.752	11.82	4.16	1.040	1.857	4.942	0.037	0.00706441792771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.993e-07	0	0	6.572e-06	6.567e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.131	0.30097	T	0.169	0.31026	T	0.002	0.12183	B	0.005	0.16012	B	0.034256	0.24793	N	0.446282	0.673115	0.33162	D	.	.	.	1.95	0.22474	T	-1.22	0.30964	N	0.125	0.16028	-1.0522	0.13790	T	0.042	0.18118	T	10	0.13092345	0.24916	T	0.007064	0.18704	T	0.037	0.09474	.	.	0.271610670623	0.26767	0.557300544536999	0.55657	0.380965989734	0.39459	0.35995811224	0.19380	T	0.079853	0.36227	T	-0.189953	0.22265	T	-0.510631	0.21250	T	0.175665870308876	0.18957	T	0.845715	0.52486	T	0.106092796	0.25087	0.04051152	0.04396	0.106092796	0.25087	0.04051152	0.04395	-5.721	0.46960	T	.	.	0.071	0.09723	B	.;.;.;.	.;.;.;.	2.374461	0.30473	18.45	0.98173063440291808	0.38873	0.85387	0.44515	D	AEBI	0.374873	0.45961	N	-0.203963551056199	0.32971	1.865392	-0.064165680709506	0.36883	2.152256	0.995115279109925	0.33959	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.620846	0.47308	0	.	.	5.29	4.16	0.48138	1.843000	0.38900	2.724000	0.34335	0.665000	0.62972	0.991000	0.37257	1.000000	0.68203	0.990000	0.65344	0.269:0.0848:0.0:0.6462	4.942	0.13320	856	0.34373	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2777.98	34	chr9	96523388	.	T	C	2777.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.04;DP=916;ExcessHet=0.0000;FS=2.399;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.97;MQRankSum=0.00;QD=13.29;ReadPosRankSum=-1.882e+00;SOR=0.892	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1265	20	0	1	0
chr9	96818086	96818086	T	C	exonic	ZNF782	.	nonsynonymous SNV	ZNF782:NM_001346993:exon4:c.A1865G:p.Y622C	.	.	385	1132	5	0	0	5	0.00220361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.999	D	0.892	P	.	.	1.000	N	2.93	M	1.8	T	-1.006	T	0.146	T	0.429	1.509	10.99	1.62	0.466	0.172	5.601	0.067	0.00228816645302	.	0.00119808	0.0012	0	0	0	0	2.998e-05	0	0.0088	0.0009896	153	154602	rs539700759	0.0005	0.0005	0.0003	0.0007	0.0080	0.0005	0.0005	0.0075	0.0073	0	0	0	0	0	0.0003	7.194e-06	0.0006	0.0080	0.0003	0.0003	0.0001	0.0004	0.0081	0.0002	0.0002	0.0061	0.0054	0	0	0	0	0	0	0	1.471e-05	0	0.0081	0.189	0.21224	T	0.153	0.32144	T	0.999	0.77913	D	0.892	0.63276	P	.	.	.	.	1	0.08975	N	2.775	0.80997	M	1.8	0.25344	T	-6.79	0.92863	D	0.274	0.32701	-1.0061	0.28126	T	0.146	0.47021	T	9	0.005348742	0.00117	T	0.002288	0.04397	T	0.096	0.27654	0.582	0.70861	0.423360453849	0.41956	0.0915135642072967	0.09084	0.568009054264	0.53033	0.578802108765	0.49917	T	0.099766	0.40489	T	-0.477436	0.00766	T	-0.45303	0.27363	T	0.226772152539538	0.21797	T	0.822018	0.48145	T	0.19609062	0.41423	0.298122	0.55845	0.19609062	0.41422	0.298122	0.55845	-9.286	0.69519	D	.	.	0.889	0.82009	P	.;.	.;.	2.385464	0.30625	18.49	0.98856426696166388	0.47390	0.00018	0.00208	N	AEGBHCI	0.110557	0.21919	N	-0.0952382059839661	0.37601	2.189929	-0.311467002466308	0.27728	1.540661	0.00212953443105451	0.09174	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	2.78	1.62	0.22817	-0.375000	0.07532	-0.327000	0.09919	-0.130000	0.13190	0.000000	0.06391	0.002000	0.18203	0.965000	0.52897	0.4526:0.0:0.0:0.5474	5.601	0.16633	757	0.50970	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2544.98	91	chr9	96818086	.	T	C	2544.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.87;DP=991;ExcessHet=0.0000;FS=4.859;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=1.20;SOR=0.821	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1222	20	0	1	0
chr9	96819529	96819529	C	A	exonic	ZNF782	.	nonsynonymous SNV	ZNF782:NM_001346993:exon4:c.G422T:p.R141L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.0	B	0.0	B	.	.	1.000	P	-0.895	N	5.98	T	-0.932	T	0.004	T	0.327	-0.408	2.091	-4.0	-1.320	-0.145	3.225	0.041	0.000896652167863	.	.	8.255e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs4645656	6.848e-07	6.84e-07	0	1.377e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.658	0.08943	T	0.912	0.04825	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	-1.445	0.00556	N	3.69	0.04114	T	2.37	0.00310	N	0.063	0.04668	-0.9319	0.43859	T	0.004	0.01330	T	8	0.033929974	0.01583	T	8.97E-4	0.00844	T	0.041	0.10877	0.524	0.62818	0.254244900254	0.25046	0.04433362831807223	0.04377	0.125945359065	0.14199	0.278184771538	0.07240	T	0.001582	0.01021	T	-0.264268	0.12404	T	-0.617379	0.11391	T	0.019273647166571	0.00633	T	0.0590941	0.00855	T	0.040805943	0.05892	0.041228253	0.04637	0.040805943	0.05892	0.041228253	0.04637	-2.08	0.03499	T	.	.	0.106	0.21578	B	.;.;.	.;.;.	-0.054531	0.03919	0.867	0.15256631057433792	0.00366	0.00002	0.00064	N	AEFGBHCI	0.015981	0.00332	N	-1.81364783500322	0.00512	0.02206136	-1.82350469604324	0.00687	0.03056922	0.0318755322217933	0.14025	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	3.38	-4.0	0.03787	0.300000	0.18911	-0.256000	0.10466	-0.681000	0.04224	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.1753:0.4618:0.0921:0.2708	3.225	0.06331	757	0.50970	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	8824.62	126	chr9	96819529	.	C	A,T	8824.62	.	AC=1,4;AF=0.024,0.095;AN=42;BaseQRankSum=2.56;DP=1311;ExcessHet=1.1607;FS=1.745;InbreedingCoeff=-0.1351;MLEAC=1,4;MLEAF=0.024,0.095;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=-5.840e-01;SOR=0.635	GT:AD:DP:GQ:PL	0/2:84,0,63:147:99:1576,1828,4042,0,2214,2025	16	0	1	0
chr9	96936505	96936505	C	T	exonic	NUTM2G	.	nonsynonymous SNV	NUTM2G:NM_001045477:exon4:c.C923T:p.P308L	.	.	516	998	6	2	0	10	0.00498504	.	.	2340969	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.003	B	0.007	B	0.830	N	1.000	N	1.905	M	2.01	T	-1.002	T	0.053	T	0.199	0.212	5.143	1.33	1.087	0.661	6.131	0.052	0.00111331206143	0.0005	.	0.0009	0	0.0029	0	0	0.0019	0	0.0003	0.000304	47	154602	rs370313314	0.0005	0.0005	0.0004	0.0005	0.0098	0.0004	0.0004	0.0074	0.0066	0.0002	0.0012	0.0004	0	0	0.0098	0.0004	0.0016	0.0002	0.0007	0.0007	0.0006	0.0008	0.0025	0.0006	0.0006	0.0019	0.0016	0.0004	0	0.0025	0.0003	0	0	0.0068	0.0007	0.0024	0.0002	0.456	0.11770	T	0.044	0.49663	D	0.003	0.11197	B	0.007	0.12992	B	0.829504	0.06933	N	1.092300	1	0.08975	N	1.49	0.37298	L	2.01	0.21291	T	-3.25	0.65283	D	0.22	0.25499	-1.0019	0.29372	T	0.053	0.22501	T	10	0.013803124	0.00292	T	0.001113	0.01336	T	0.052	0.14661	.	.	0.0611884634855	0.05136	0.19828223971994344	0.19745	.	.	0.412240624428	0.26768	T	0.017811	0.14467	T	-0.510239	0.00500	T	-0.55614	0.16741	T	0.0110780275190484	0.00161	T	0.381062	0.09207	T	0.04195619	0.06274	0.08651128	0.20048	0.04195619	0.06274	0.08651128	0.20048	-6.276	0.48532	T	.	.	0.095	0.15115	B	.;.	.;.	1.384887	0.17971	13.47	0.68863937114679086	0.08790	0.01538	0.05055	N	AEFGCI	0.028325	0.02475	N	-0.852834385991996	0.11980	0.581259	-0.979535226023456	0.10246	0.514773	9.56451038714792E-5	0.04910	0.421363	0.06395	0	0.550933	0.16991	0	0.514364	0.09456	0	0.727631	0.95156	0	.	.	1.33	1.33	0.20958	0.949000	0.28707	-0.461000	0.09038	0.430000	0.20916	0.002000	0.15269	0.000000	0.08366	0.010000	0.09038	0.0:1.0:0.0:0.0	6.131	0.19426	803	0.44167	.;Nuclear Testis  protein, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	268.98	12	chr9	96936505	.	C	T	268.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.214e+00;DP=418;ExcessHet=0.0000;FS=3.834;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=51.71;MQRankSum=1.36;QD=11.21;ReadPosRankSum=2.36;SOR=1.100	GT:AD:DP:GQ:PL	0/0:18,0:18:42:0,42,630	20	0	1	0
chr9	96938370	96938370	G	A	exonic	NUTM2G	.	nonsynonymous SNV	NUTM2G:NM_001170741:exon7:c.G1447A:p.E483K,	.	.	445	1074	3	0	0	3	0.0013947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	0.141	N	1.000	N	1.67	L	2.48	T	-1.052	T	0.037	T	0.175	1.960	12.51	-0.043	0.004	-0.425	4.894	0.041	0.00101187669509	.	0.00239617	0.0045	0.0032	0	0	0	0.0081	0	0	0.0019978	52	26028	rs533125745	0.0069	0.0070	0.0071	0.0068	0.0085	0.0068	0.0068	0.0083	0.0083	0.0011	0.0024	0.0005	0	0.0009	0.0015	0.0085	0.0060	0.0002	0.0050	0.0050	0.0057	0.0043	0.0081	0.0047	0.0046	0.0075	0.0073	0.0017	0.0687	0.0032	0	0	0.0009	0	0.0081	0.0078	0	0.013	0.53900	D	0.026	0.55759	D	.	.	.	.	.	.	0.140537	0.18306	N	0.500084	1	0.08975	N	2.94	0.84723	M	2.48	0.14657	T	-2.1	0.47852	N	0.118	0.10769	-1.0517	0.13926	T	0.037	0.16029	T	8	0.0050183237	0.00108	T	0.001012	0.01096	T	0.041	0.10877	.	.	0.0297737177859	0.01360	0.08481698556847918	0.08415	.	.	0.661004543304	0.61553	T	0.080866	0.36464	T	-0.551107	0.00287	T	-0.559979	0.16380	T	0.04844731092453	0.05223	T	0.468553	0.13811	T	0.10898201	0.25765	0.118755795	0.28666	0.10898201	0.25765	0.118755795	0.28666	-8.012	0.61152	D	.	.	0.145	0.32030	B	.	.	2.271568	0.29037	17.99	0.99305059808855667	0.58795	0.02053	0.06133	N	AEFGI	0.029091	0.02684	N	-0.509508482255305	0.21772	1.157866	-0.712298998012798	0.16655	0.8820704	3.73218736450228E-5	0.03775	0.421363	0.06395	0	0.514364	0.08380	0	0.536957	0.11973	0	0.727631	0.95156	0	.	.	1.01	-0.0434	0.13188	-0.741000	0.04961	-20.000000	0.00162	-0.336000	0.05739	0.005000	0.17040	0.000000	0.08366	0.034000	0.13613	0.0:0.3908:0.6092:0.0	4.894	0.13098	803	0.44167	Nuclear Testis  protein, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	293.98	22	chr9	96938370	.	G	A	293.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.99;DP=632;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=30.24;MQRankSum=1.53;QD=8.17;ReadPosRankSum=0.034;SOR=0.239	GT:AD:DP:GQ:PL	0/0:20,0:20:57:0,57,855	20	0	1	0
chr9	96938431	96938431	C	T	exonic	NUTM2G	.	nonsynonymous SNV	NUTM2G:NM_001170741:exon7:c.C1508T:p.T503M,	.	.	431	1088	2	1	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	0.078	N	1.000	N	1.61	L	2.66	T	-1.001	T	0.043	T	0.066	0.046	4.255	0.736	0.723	0.121	4.861	0.031	0.000755969560128	.	.	0.0015	0.0091	0	0	0	0.0016	0	0.0002	3.84e-05	1	26028	rs766938596	0.0005	0.0010	0.0005	0.0005	0.0055	0.0004	0.0004	0.0048	0.0045	0.0055	0.0004	0.0006	0.0001	0.0003	0.0020	0.0004	0.0005	0.0001	0.0017	0.0024	0.0018	0.0016	0.0050	0.0015	0.0014	0.0044	0.0042	0.0050	0	0.0011	0.0003	0	0.0008	0	0.0003	0.0005	0.0002	0.113	0.28772	T	0.127	0.35082	T	.	.	.	.	.	.	0.077615	0.02318	N	1.979660	1	0.08975	N	0.99	0.25021	L	2.66	0.12575	T	-1.59	0.38345	N	0.092	0.07125	-1.0013	0.29545	T	0.043	0.18659	T	8	0.006958455	0.00158	T	7.56E-4	0.00529	T	0.031	0.07369	.	.	0.0297737177859	0.01360	0.07896280864985115	0.07831	.	.	0.583758473396	0.50614	T	0.008615	0.07902	T	-0.335898	0.05677	T	-0.720271	0.04783	T	0.00714833768998911	0.00082	T	0.375462	0.08961	T	0.029064903	0.02342	0.054194964	0.09276	0.029064903	0.02341	0.054194964	0.09275	-5.533	0.42176	T	.	.	0.085	0.10208	B	.	.	0.846054	0.12182	8.727	0.88740040113790519	0.18216	0.00296	0.01581	N	AEFGI	0.025075	0.01656	N	-0.623387551675518	0.18244	0.9455722	-0.858944109297307	0.13072	0.6761596	5.44189052869553E-5	0.04171	0.421363	0.06395	0	0.550933	0.16991	0	0.536957	0.11973	0	0.727631	0.95156	0	.	.	0.736	0.736	0.17456	0.037000	0.13728	-20.000000	0.00162	-0.419000	0.05236	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:1.0:0.0:0.0	4.861	0.12944	803	0.44167	Nuclear Testis  protein, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	500.98	46	chr9	96938431	.	C	T	500.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=899;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=37.35;MQRankSum=-7.660e-01;QD=5.51;ReadPosRankSum=0.176;SOR=0.788	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1128	20	0	1	0
chr9	97320140	97320140	C	G	exonic	CCDC180	.	nonsynonymous SNV	CCDC180:NM_020893:exon11:c.C1094G:p.P365R	.	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	1.0	D	1.0	D	0.001	D	1.000	D	2.36	M	1.23	T	-0.893	T	0.068	T	0.681	2.115	13.03	4.87	2.619	2.291	14.219	0.250	.	0.0126	0.0131789	0.0035	0.0387	0.0017	0	0	5.994e-05	0.0011	0.0001	0.0033764	522	154602	rs61261278	0.0011	0.0011	0.0012	0.0009	0.0360	0.0010	0.0010	0.0343	0.0336	0.0360	0.0016	0	0	0	0.0009	9.353e-05	0.0025	0.0001	0.0097	0.0097	0.0106	0.0087	0.0333	0.0093	0.0091	0.0319	0.0313	0.0333	0	0.0035	0	0	0	0	0.0001	0.0118	0.0002	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	0.000838	0.41547	D	0.139512	0.972226	0.38930	D	.	.	.	1.23	0.36872	T	-6.9	0.93293	D	0.574	0.59648	-0.8931	0.48659	T	0.068	0.27845	T	10	0.0042665303	0.00085	T	.	.	.	0.250	0.55888	.	.	0.668895562322	0.66610	0.30165273345532084	0.30078	.	.	0.443944185972	0.31116	T	.	.	.	-0.275671	0.11131	T	-0.141599	0.59979	T	0.0536525708291464	0.06130	T	0.761624	0.38671	T	0.70147955	0.78137	0.6702592	0.80653	0.70147955	0.78138	0.6702592	0.80654	-10.335	0.75893	D	.	.	0.413	0.60291	A	.	.	4.145315	0.62139	24.4	0.98624964172202478	0.43825	0.85684	0.44843	D	AEFI	0.264226	0.38161	N	0.521190482005497	0.68343	5.204289	0.443092555704238	0.64273	4.678925	0.999956581609142	0.48110	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.87	4.87	0.62877	2.330000	0.43544	5.880000	0.50633	0.599000	0.40250	0.964000	0.33853	1.000000	0.68203	0.632000	0.32210	0.0:1.0:0.0:0.0	14.219	0.65356	778	0.48011	Domain of unknown function DUF4455	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1643.98	161	chr9	97320140	.	C	G	1643.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=836;ExcessHet=0.0000;FS=1.236;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.21;ReadPosRankSum=-2.360e-01;SOR=0.736	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1210	20	0	1	0
chr9	97482924	97482924	C	T	exonic	TDRD7	.	nonsynonymous SNV	TDRD7:NM_001302884:exon14:c.C2266T:p.R756C	Cataract 36	.	0	1501	21	0	0	21	0.00694674	.	.	319601	Cataract_36|TDRD7-related_disorder	MONDO:MONDO:0013484,MedGen:C3151304,OMIM:613887|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.997	D	0.000	D	1.000	D	1.39	L	2.57	T	-1.108	T	0.090	T	0.874	3.132	16.47	4.88	2.937	2.934	15.536	0.215	0.0165181292983	0.0004	0.000798722	0.0009	0.0003	0.0010	0	0.0005	0.0011	0.0022	0.0005	0.0008409	130	154602	rs140697341	0.0006	0.0006	0.0006	0.0007	0.0028	0.0006	0.0006	0.0017	0.0014	0.0007	0.0010	0.0072	0	0.0010	0.0028	0.0004	0.0011	0.0005	0.0009	0.0009	0.0006	0.0011	0.0015	0.0007	0.0007	0.0010	0.0009	0.0002	0	0.0015	0.0075	0.0002	0.0012	0.0034	0.0007	0.0019	0.0006	0.094	0.31383	T	0.069	0.43913	T	1.0	0.90584	D	0.997	0.86255	D	0.000224	0.47286	D	0.252104	0.999998	0.58761	D	2.015	0.55033	M	2.57	0.13552	T	-2.52	0.54702	D	0.418	0.45803	-1.1083	0.03219	T	0.090	0.34628	T	10	0.008106023	0.00184	T	0.016518	0.37815	T	0.215	0.50805	.	.	0.464870050199	0.46114	0.6080530998970395	0.60737	0.626776388847	0.56798	0.314393341541	0.12572	T	0.282167	0.65490	T	-0.171513	0.25005	T	-0.0695836	0.65656	T	0.0589252446298112	0.06997	T	0.840516	0.51562	T	0.11106341	0.26247	0.081332795	0.18476	0.11106341	0.26247	0.081332795	0.18475	-2.811	0.08285	T	.	.	0.114	0.22644	B	.	.	4.788568	0.77693	26.7	0.99647869552333002	0.77068	0.94655	0.61878	D	AEFBI	0.557535	0.56712	D	0.41059120562521	0.62004	4.409478	0.487206890863386	0.67140	5.044496	0.197376636802961	0.18078	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.84	4.88	0.63131	2.993000	0.49114	3.995000	0.41022	-0.171000	0.11205	0.992000	0.37556	0.999000	0.35428	0.986000	0.61781	0.0:0.8617:0.1383:0.0	15.536	0.75742	695	0.58372	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2695.98	33	chr9	97482924	.	C	T	2695.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=939;ExcessHet=0.0000;FS=0.970;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=0.187;SOR=0.787	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1274	20	0	1	0
chr9	97675578	97675578	C	T	exonic	XPA	.	nonsynonymous SNV	XPA:NM_000380:exon6:c.G683A:p.R228Q	Xeroderma pigmentosum, group A, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	139202	Xeroderma_pigmentosum|Xeroderma_pigmentosum_group_A|not_specified|not_provided	MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910|MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700,Orphanet:910|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.34	T	0.999	D	0.749	P	0.000	D	1.000	D	1.21	L	0.19	T	-0.836	T	0.237	T	0.69	3.458	17.72	5.32	2.941	5.080	18.314	0.164	0.0091672645802	0.0002	.	0.0002	0	0.0005	0	0.0002	0.0002	0	0.0004	0.000194	30	154602	rs1805160	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	0	0.0004	0	0	1.873e-05	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	9.251e-05	0.0002	0.0001	0.0001	0	0.0004	0	0	0	0	0.0002	0.0005	0	0.324	0.13392	T	0.414	0.14369	T	0.999	0.77913	D	0.749	0.56004	P	0.000041	0.55875	D	0.120373	0.999976	0.53665	D	1.445	0.36358	L	0.19	0.60236	T	-0.34	0.12661	N	0.571	0.59393	-0.8361	0.52904	T	0.237	0.60415	T	10	0.30437988	0.47963	T	0.009167	0.24107	T	0.164	0.42212	.	.	0.778699477751	0.77666	0.5068949228481926	0.50611	0.348634746703	0.36727	0.455722332001	0.32725	T	0.13331	0.46391	T	-0.142294	0.29524	T	-0.114211	0.62274	T	0.0832293260933461	0.10395	T	0.968903	0.88767	D	0.2574539	0.48789	0.16138756	0.37542	0.2574539	0.48789	0.16138756	0.37541	-7.794	0.59658	D	0.27995976538383904	0.37509	0.155	0.34205	B	.	.	4.321340	0.66145	24.9	0.99627310574728833	0.75837	0.93529	0.58465	D	AEFBCI	0.637600	0.61632	D	0.545348310304314	0.69798	5.408643	0.59074979274206	0.74272	6.10945	0.999999999999726	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.575934	0.27490	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	5.303000	0.65530	7.657000	0.64017	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.314	0.90153	672	0.60758	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1385.98	35	chr9	97675578	.	C	T	1385.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.700e-01;DP=859;ExcessHet=0.0000;FS=0.626;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.43;ReadPosRankSum=2.24;SOR=0.613	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1027	20	0	1	0
chr9	97854424	97854424	-	GCC	exonic	FOXE1	.	nonframeshift insertion	FOXE1:NM_004473:exon1:c.510_511insGCC:p.A179_I180insA,	Bamforth-Lazarus syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs755194188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	10238.96	16	chr9	97854418	.	AGCCGCC	AGCCGCCGCC,A	10238.96	.	AC=2,29;AF=0.048,0.690;AN=42;BaseQRankSum=0.545;DP=637;ExcessHet=0.4237;FS=0.947;InbreedingCoeff=0.1378;MLEAC=2,29;MLEAF=0.048,0.690;MQ=60.00;MQRankSum=0.00;QD=30.56;ReadPosRankSum=1.13;SOR=0.623	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:4,9,0:13:99:.:.:317,0,136,329,163,492	2	0	1	0
chr9	98080912	98080912	G	A	exonic	NANS	.	nonsynonymous SNV	NANS:NM_018946:exon5:c.G700A:p.V234M,	Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, Autosomal recessive	.	418	1101	3	0	0	3	0.00136054	.	.	1654836	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.984	D	0.000	D	1.000	D	1.715	L	0.72	T	-0.606	T	0.264	T	0.615	4.222	21.9	5.44	2.739	6.349	17.134	0.255	0.0367466877027	0.0005	.	0.0003	0	8.643e-05	0	0	0.0004	0	6.084e-05	0.0002652	41	154602	rs142834890	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0002	0.0011	0.0008	0.0001	0.0002	0.0033	0	3.744e-05	0.0019	0.0001	0.0006	0.0001	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	9.617e-05	0	0.0002	0.0049	0	0	0	0.0003	0	0	0.051	0.58626	T	0.011	0.65728	D	0.873	0.47975	P	0.491	0.47360	P	0.000000	0.84330	D	0.052122	0.999947	0.81001	D	2.82	0.82106	M	0.72	0.50976	T	-2.41	0.52938	N	0.619	0.63459	-0.6055	0.64590	T	0.264	0.63555	T	10	0.027842253	0.00924	T	0.036747	0.57186	D	0.255	0.56562	.	.	0.707837459798	0.70529	0.7778025273869382	0.77730	0.788549250124	0.65645	0.734516501427	0.72167	T	0.04251	0.26207	T	-0.172392	0.24873	T	-0.179429	0.56575	T	0.318256437778473	0.25751	T	0.985721	0.97782	D	0.6805445	0.76999	0.5199654	0.72266	0.6805445	0.77000	0.5199654	0.72266	-8.017	0.61186	D	.	.	0.631	0.70166	P	.;.;.	.;.;.	4.612219	0.73149	25.9	0.99901080076556281	0.97275	0.93048	0.57195	D	AEFBCI	0.793777	0.72168	D	0.644555746018845	0.76017	6.409479	0.666380585289212	0.79837	7.167215	0.99999987436656	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	5.44	5.44	0.79348	6.458000	0.73425	9.811000	0.81748	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:1.0:0.0	17.134	0.86611	676	0.60355	N-acetylneuraminic acid synthase, N-terminal;N-acetylneuraminic acid synthase, N-terminal;N-acetylneuraminic acid synthase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2357.98	37	chr9	98080912	.	G	A	2357.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.16;DP=888;ExcessHet=0.0000;FS=1.857;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.25;ReadPosRankSum=-2.085e+00;SOR=0.532	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr9	98081003	98081003	G	A	exonic	NANS	.	nonsynonymous SNV	NANS:NM_018946:exon5:c.G791A:p.R264Q,	Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, Autosomal recessive	.	419	1100	3	0	0	3	0.00136178	.	.	1448476	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.58	T	0.951	P	0.509	P	0.000	N	1.000	D	1.05	L	0.98	T	-1.097	T	0.081	T	0.211	2.255	13.50	2.4	0.740	2.179	10.156	0.047	0.0208357830371	7.7e-05	0.000399361	6.594e-05	0	0.0002	0.0002	0	4.498e-05	0	6.057e-05	6.47e-05	10	154602	rs150891435	4.036e-05	4.036e-05	3.675e-05	4.4e-05	0.0021	3.178e-05	2.91e-05	0.0012	0.0009	5.974e-05	0.0003	0	0.0001	0	0.0021	1.259e-05	0.0002	2.319e-05	0.0003	0.0003	0.0003	0.0003	0.0022	0.0002	0.0002	0.0016	0.0014	9.623e-05	0	0.0022	0	0	0	0	7.35e-05	0.0009	0	0.052	0.48186	T	0.249	0.26714	T	0.951	0.53992	P	0.509	0.47904	P	0.000114	0.50451	N	0.197129	0.860096	0.81001	D	1.165	0.29723	L	0.98	0.42122	T	-1.68	0.48850	N	0.21	0.23380	-1.0975	0.04407	T	0.081	0.31854	T	10	0.041009128	0.02718	T	0.020836	0.43511	T	0.047	0.12962	.	.	0.560453403006	0.55707	0.5673935009475711	0.56667	0.380626190797	0.39428	0.323778271675	0.13993	T	0.004341	0.19376	T	-0.366417	0.03779	T	-0.471961	0.25304	T	0.0254212586290937	0.01328	T	0.824018	0.50835	T	0.108913265	0.25751	0.13862243	0.33101	0.108913265	0.25751	0.13862243	0.33100	-5.463	0.41521	T	.	.	0.093	0.17657	B	.;.;.	.;.;.	3.140245	0.42469	21.5	0.99620186252617071	0.75353	0.84336	0.43418	D	AEFDBCI	0.668275	0.63611	D	-0.243592294884428	0.31359	1.757611	-0.177922547330928	0.32349	1.839601	0.999971550364059	0.50053	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	5.29	2.4	0.28568	2.239000	0.42728	1.520000	0.27085	0.676000	0.76740	1.000000	0.71638	0.976000	0.30059	0.870000	0.41412	0.2399:0.0:0.7601:0.0	10.156	0.42000	676	0.60355	N-acetylneuraminic acid synthase, N-terminal;N-acetylneuraminic acid synthase, N-terminal;N-acetylneuraminic acid synthase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1671.98	37	chr9	98081003	.	G	A	1671.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.559;DP=879;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.93;ReadPosRankSum=1.27;SOR=0.678	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr9	98081023	98081023	C	T	exonic	NANS	.	nonsynonymous SNV	NANS:NM_018946:exon5:c.C811T:p.R271C,	Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, Autosomal recessive	.	426	1093	3	0	0	3	0.00137049	.	.	1341873	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.994	D	0.806	P	0.003	N	1.000	D	1.73	L	0.92	T	-0.832	T	0.163	T	0.427	2.679	14.92	-0.026	-0.158	1.935	14.010	0.226	0.0610726024857	0.0002	0.000199681	0.0001	0	0.0002	0	0	0.0001	0	0.0004	0.0001164	18	154602	rs145067627	0.0001	0.0001	0.0001	0.0001	0.0028	0.0001	9.567e-05	0.0017	0.0014	0	0.0003	0.0011	0	0	0.0028	6.295e-05	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0022	0.0002	0.0002	0.0016	0.0014	7.215e-05	0	0.0022	0.0014	0	9.414e-05	0	4.41e-05	0.0009	0.0002	0.012	0.54683	D	0.013	0.63109	D	0.96	0.55278	D	0.773	0.56974	P	0.002709	0.36068	N	0.341206	0.998208	0.50402	D	2.52	0.73523	M	0.92	0.44461	T	-2.87	0.66085	D	0.258	0.29197	-0.8317	0.53191	T	0.163	0.49914	T	10	0.07936743	0.12759	T	0.061073	0.68212	D	0.226	0.52472	.	.	0.600181211551	0.59699	0.6879662751772725	0.68736	0.686921346959	0.60353	0.394303262234	0.24274	T	0.035325	0.31948	T	-0.310021	0.07745	T	-0.378553	0.35892	T	0.273379743099213	0.23891	T	0.834417	0.72522	T	0.29058146	0.52046	0.25235644	0.50863	0.29058146	0.52046	0.25235644	0.50863	-7.357	0.56600	T	.	.	0.154	0.42621	B	.;.;.	.;.;.	3.249859	0.44396	21.9	0.99525221820269005	0.69530	0.73433	0.35920	D	AEFDBCI	0.579616	0.58035	D	-0.223779786165907	0.32159	1.810744	-0.362657673416742	0.26121	1.440737	0.999709222398381	0.41986	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	5.29	-0.026	0.13258	1.531000	0.35624	3.463000	0.38527	-0.766000	0.03482	0.996000	0.39380	0.999000	0.35428	0.229000	0.22707	0.3967:0.6033:0.0:0.0	14.010	0.64007	676	0.60355	N-acetylneuraminic acid synthase, N-terminal;N-acetylneuraminic acid synthase, N-terminal;N-acetylneuraminic acid synthase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1556.98	37	chr9	98081023	.	C	T	1556.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.546;DP=865;ExcessHet=0.0000;FS=1.576;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.55;ReadPosRankSum=0.915;SOR=0.497	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr9	98087897	98087897	G	T	exonic	TRIM14	.	nonsynonymous SNV	TRIM14:NM_014788:exon6:c.C902A:p.P301H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.053	B	0.02	B	0.521	N	1.000	N	-0.71	N	3.14	T	-1.052	T	0.041	T	0.157	0.369	6.005	3.29	2.079	4.177	10.030	0.101	0.120679381196	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1000371035	1.34e-05	1.847e-05	1.824e-05	8.511e-06	0.0003	8.57e-06	6.91e-06	0.0002	0.0001	0.0003	0.0001	0	0	0	0	0	5.092e-05	0	4.601e-05	4.597e-05	3.856e-05	5.381e-05	0.0002	2.11e-05	1.527e-05	7.891e-05	5.587e-05	0.0002	0	0	0	0	0	0	0	0	0	0.379	0.11227	T	0.364	0.16766	T	0.029	0.19866	B	0.014	0.16862	B	0.521104	0.11740	N	0.747059	1	0.08975	N	-1.11	0.00959	N	3.14	0.07920	T	0.87	0.01688	N	0.382	0.44666	-1.0524	0.13736	T	0.041	0.17827	T	10	0.11303225	0.21221	T	0.120679	0.80127	D	0.115	0.32236	0.489	0.57415	0.499535901811	0.49588	0.6237136442280238	0.62304	0.669939924948	0.59385	0.829588055611	0.86499	D	0.005547	0.05002	T	-0.441751	0.01263	T	-0.607893	0.12156	T	0.0236296828909058	0.01099	T	0.50185	0.15733	T	0.21939662	0.44470	0.10250563	0.24570	0.21939662	0.44470	0.10250563	0.24570	-6.227	0.48141	T	.	.	0.230	0.46250	B	.;.;.	.;.;.	2.175030	0.27721	17.56	0.88731170689541838	0.18209	0.53721	0.29440	D	AEFDBHCIJ	0.094500	0.19106	N	-0.291547351890874	0.29474	1.634774	-0.260947641800569	0.29396	1.646601	0.999999812302579	0.74766	0.72623	0.87236	0	0.702456	0.74545	0	0.594344	0.31042	0	0.71	0.69187	0	.	.	4.26	3.29	0.36801	3.004000	0.49200	10.622000	0.83495	0.516000	0.23499	0.165000	0.23867	1.000000	0.68203	0.042000	0.14466	0.0:0.0:0.6903:0.3097	10.030	0.41269	678	0.60190	SPRY-associated|B30.2/SPRY domain|SPRY-associated;SPRY-associated|B30.2/SPRY domain|SPRY-associated;SPRY-associated|B30.2/SPRY domain|SPRY-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1302.98	91	chr9	98087897	.	G	T	1302.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.284e+00;DP=825;ExcessHet=0.0000;FS=1.733;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.32;ReadPosRankSum=0.832;SOR=0.529	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1130	20	0	1	0
chr9	98088002	98088002	G	C	exonic	TRIM14	.	nonsynonymous SNV	TRIM14:NM_014788:exon6:c.C797G:p.A266G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.999	D	0.919	D	0.000	D	0.978	D	1.565	L	-0.01	T	-0.589	T	0.287	T	0.134	1.885	12.26	2.85	0.408	2.120	7.499	0.119	0.253325444509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.39334	T	0.326	0.18789	T	0.999	0.77913	D	0.919	0.65474	D	0.000008	0.62929	D	0.000000	0.934557	0.39386	D	2.485	0.72352	M	-0.01	0.62762	T	-1.74	0.41239	N	0.478	0.51315	-0.5885	0.65280	T	0.287	0.65919	T	10	0.3047067	0.47993	T	0.253325	0.89207	D	0.119	0.33137	0.259	0.20159	0.802445388504	0.80060	0.603797602369257	0.60310	1.40911643441	0.85404	0.696572422981	0.66649	T	0.03355	0.22959	T	-0.114349	0.34050	T	-0.402031	0.33148	T	0.94648951292038	0.62479	D	0.760924	0.38541	T	0.38703337	0.59821	0.15885353	0.37075	0.38703337	0.59821	0.15885353	0.37075	-5.707	0.43756	T	.	.	0.143	0.31583	B	.;.;.	.;.;.	4.791208	0.77763	26.8	0.97478552647155081	0.34178	0.74840	0.36622	D	ALL	0.195138	0.32219	N	0.248948123742922	0.53585	3.526918	0.20408619743319	0.50073	3.203282	0.999999999023702	0.74766	0.72623	0.87236	0	0.702456	0.74545	0	0.594344	0.31042	0	0.71	0.69187	0	.	.	4.73	2.85	0.32333	2.360000	0.43805	4.799000	0.44955	0.520000	0.23804	0.987000	0.36337	1.000000	0.68203	0.972000	0.54974	0.09:0.0:0.7453:0.1647	7.499	0.26674	678	0.60190	Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-associated;Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-associated;Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1479.98	44	chr9	98088002	.	G	C	1479.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.38;DP=871;ExcessHet=0.0000;FS=0.670;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=1.09;SOR=0.796	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1130	20	0	1	0
chr9	98199422	98199422	C	T	exonic	TBC1D2	.	nonsynonymous SNV	TBC1D2:NM_001267572:exon7:c.G1366A:p.E456K	.	.	403	1078	40	1	0	42	0.0191083	.	.	701105	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.59	T	0.432	B	0.039	B	0.090	N	1.000	N	1.79	L	3.5	T	-0.987	T	0.013	T	0.336	3.042	16.15	3.5	0.641	1.029	9.281	0.028	.	0.0070	0.00399361	0.0078	0.0025	0.0040	0	0.0074	0.0093	0.0056	0.0119	0.0075872	1173	154602	rs34769888	0.0071	0.0071	0.0068	0.0074	0.0154	0.0070	0.0069	0.0128	0.0118	0.0013	0.0042	0.0184	5.038e-05	0.0071	0.0154	0.0070	0.0073	0.0119	0.0060	0.0060	0.0061	0.0058	0.0151	0.0056	0.0055	0.0123	0.0113	0.0018	0.0022	0.0039	0.0210	0.0004	0.0057	0.0034	0.0081	0.0047	0.0151	0.016	0.51853	D	0.143	0.35840	T	0.306	0.35621	B	0.017	0.23607	B	0.089520	0.20424	N	0.512441	0.999997	0.58761	D	2.3	0.65703	M	3.11	0.08810	T	-1.28	0.32185	N	0.092	0.07811	-0.9873	0.33273	T	0.013	0.05177	T	10	0.003650248	0.00067	T	.	.	.	0.028	0.06331	.	.	0.371903410333	0.36803	0.30874163509496355	0.30787	0.338595813605	0.35820	0.383564561605	0.22761	T	0.006655	0.06077	T	-0.519326	0.00444	T	-0.508364	0.21483	T	0.0119895157421694	0.00189	T	0.741226	0.36032	T	0.047576625	0.08154	0.09102525	0.21379	0.047576625	0.08154	0.09102525	0.21379	-6.171	0.47687	T	.	.	0.074	0.08224	B	.;.;.;.	.;.;.;.	2.443220	0.31445	18.74	0.99390375900233052	0.62292	0.80830	0.40369	D	AEFBI	0.225969	0.34998	N	-0.584721243569984	0.19409	1.015525	-0.599587913781034	0.19504	1.046703	0.998571519230402	0.37226	0.706298	0.61202	0	0.633656	0.55848	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.34	3.5	0.39181	0.450000	0.21475	1.389000	0.26100	0.580000	0.29708	0.018000	0.19461	0.879000	0.27682	0.035000	0.13729	0.0:0.8294:0.0:0.1706	9.281	0.36888	630	0.65016	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1572.11	38	chr9	98199422	.	C	T	1572.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-9.160e-01;DP=794;ExcessHet=0.1072;FS=0.638;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=0.930;SOR=0.627	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1176	19	0	2	0
chr9	98210833	98210833	A	C	exonic	TBC1D2	.	nonsynonymous SNV	TBC1D2:NM_001267572:exon2:c.T116G:p.L39R	.	.	424	1081	17	0	0	17	0.00780174	.	.	737268	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.983	D	0.822	P	0.000	D	1.000	D	2.125	M	2.79	T	-1.070	T	0.071	T	0.854	4.441	23.6	5.46	2.070	8.370	14.516	0.534	.	0.0012	0.00199681	0.0063	0	0	0	0	0.0057	0.0110	0.0102	0.0012096	187	154602	rs150561627	0.0014	0.0014	0.0011	0.0017	0.0095	0.0013	0.0013	0.0089	0.0087	0.0001	0.0006	0.0178	0	4.058e-05	0.0070	0.0005	0.0027	0.0095	0.0012	0.0012	0.0010	0.0013	0.0085	0.0010	0.0010	0.0064	0.0057	7.217e-05	0	0.0010	0.0153	0	0	0.0136	0.0009	0.0014	0.0085	0.005	0.91255	D	0.016	0.62352	D	0.972	0.60381	D	0.669	0.59150	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.095	0.87515	M	2.79	0.15964	T	-4.65	0.81107	D	0.884	0.90704	-1.0700	0.09413	T	0.071	0.28773	T	10	0.009061456	0.00205	T	.	.	.	0.534	0.80426	.	.	0.477065420593	0.47334	0.7347188407829627	0.73416	1.15701977148	0.79381	0.595735788345	0.52303	T	0.121065	0.44376	T	-0.136935	0.30378	T	0.0384869	0.72828	D	0.0981456533404676	0.12151	T	0.876912	0.59357	D	0.5908083	0.72195	0.59070086	0.76251	0.5908083	0.72196	0.59070086	0.76252	-15.668	0.97513	D	.	.	0.316	0.57211	B	.;.;.;.;.	.;.;.;.;.	4.623002	0.73422	26.0	0.99758748373494632	0.84851	0.99536	0.97188	D	AEFDBI	0.912455	0.87311	D	0.66987705853291	0.77659	6.717634	0.66773500774423	0.79940	7.189338	0.999999997936555	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.46	5.46	0.80021	8.358000	0.89989	11.142000	0.87100	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	14.516	0.67406	548	0.72362	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	824.98	68	chr9	98210833	.	A	C	824.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.700e-01;DP=767;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=-4.900e-02;SOR=0.696	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1041	20	0	1	0
chr9	98796337	98796337	G	A	exonic	ANKS6	.	nonsynonymous SNV	ANKS6:NM_173551:exon1:c.C155T:p.A52V,	Nephronophthisis 16, Autosomal recessive	.	429	1089	4	0	0	4	0.00183318	.	.	1316257	not_provided|Nephronophthisis_16	MedGen:C3661900|MONDO:MONDO:0014158,MedGen:C3809320,OMIM:615382,Orphanet:655	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.059	B	0.114	B	0.467	N	1.000	D	1.02	L	-0.48	T	-0.849	T	0.258	T	0.391	1.585	11.26	1.29	0.534	0.672	9.127	0.147	0.0925100627017	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1422061469	1.06e-05	2.258e-05	1.462e-05	6.111e-06	0.0004	5.69e-06	4.16e-06	3.26e-06	2.09e-06	0	0	0	0	0	0.0004	7.831e-06	4.972e-05	5.164e-05	3.358e-05	3.288e-05	1.311e-05	5.51e-05	0.0004	1.282e-05	8.13e-06	7.304e-05	3.034e-05	0	0	0.0001	0	0	0	0	1.498e-05	0	0.0004	0.219	0.19023	T	0.486	0.11691	T	0.059	0.23051	B	0.114	0.31755	B	0.466681	0.04901	N	1.337590	1	0.81001	D	2.595	0.75868	M	-0.48	0.70249	T	-0.35	0.12847	N	0.414	0.45426	-0.8488	0.52051	T	0.258	0.62912	T	10	0.17145261	0.31865	T	0.09251	0.75904	D	0.147	0.38986	0.234	0.16305	0.703127994698	0.70054	0.4513638873845564	0.45054	0.110450382627	0.12463	0.862614154816	0.91496	D	0.00853	0.07826	T	-0.000910271	0.51528	T	-0.239084	0.50888	T	0.361833155155182	0.27480	T	0.543046	0.18512	T	0.06769038	0.14680	0.06712323	0.13842	0.06769038	0.14679	0.06712323	0.13842	-5.954	0.45892	T	.	.	0.110	0.21353	B	.	.	2.721516	0.35600	19.94	0.99004943401706047	0.50231	0.44299	0.27288	N	AEFDBHCI	0.160235	0.28614	N	-0.479581629648352	0.22751	1.217009	-0.466112106123191	0.23093	1.257634	0.999999999060555	0.74766	0.65757	0.49021	0	0.606814	0.50340	0	0.619478	0.44681	0	0.621717	0.48901	0	.	.	3.47	1.29	0.20717	2.509000	0.45120	5.595000	0.49008	0.540000	0.25189	1.000000	0.71638	1.000000	0.68203	0.394000	0.26647	0.0:0.0:0.6111:0.3889	9.127	0.35982	791	0.46100	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	617.98	13	chr9	98796337	.	G	A	617.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=570;ExcessHet=0.0000;FS=2.488;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=-1.600e-01;SOR=0.998	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr9	98831854	98831854	G	A	exonic	GALNT12	.	nonsynonymous SNV	GALNT12:NM_024642:exon4:c.G814A:p.G272R,	.	.	.	.	.	.	.	.	.	.	.	475014	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.24	T	0.156	B	0.041	B	0.001	N	1.000	D	1.495	L	0.2	T	-1.064	T	0.202	T	0.764	2.163	13.19	4.83	1.427	4.861	12.657	0.240	0.013692603762	7.7e-05	0.000399361	0.0003	0.0003	8.66e-05	0.0001	0	3e-05	0	0.0015	0.0002199	34	154602	rs367645298	0.0001	0.0001	8.848e-05	0.0002	0.0016	0.0001	0.0001	0.0014	0.0013	0	6.708e-05	0	0.0001	0	0.0003	3.237e-05	0.0002	0.0016	0.0001	0.0001	6.423e-05	0.0002	0.0019	8.162e-05	6.719e-05	0.0010	0.0007	0.0002	0	0	0	0	0	0	2.94e-05	0	0.0019	0.29	0.14996	T	0.497	0.11299	T	0.156	0.28196	B	0.041	0.23986	B	0.000890	0.00704	N	6.991890	1	0.81001	D	2.395	0.69210	M	0.2	0.60111	T	-2.19	0.49352	N	0.453	0.49055	-1.0644	0.10689	T	0.202	0.55905	T	10	0.027550817	0.00899	T	0.013693	0.33283	T	0.240	0.54500	0.583	0.70990	0.572793788404	0.56946	0.8353386254684321	0.83493	0.314701398016	0.33750	0.600230455399	0.52937	T	0.034303	0.23266	T	-0.193664	0.21721	T	-0.0810404	0.64827	T	0.0584372427194408	0.06919	T	0.689031	0.29821	T	0.1673557	0.37128	0.16329835	0.37888	0.1673557	0.37127	0.16329835	0.37887	-10.595	0.77391	D	.	.	0.201	0.42549	B	.	.	3.272317	0.44800	22.0	0.98235319393892817	0.39431	0.96213	0.68055	D	AEFBI	0.687940	0.64911	D	-0.0657709345731526	0.38901	2.285574	0.0686339400051023	0.42981	2.609506	0.999999674448264	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.72	4.83	0.61880	5.036000	0.63957	5.834000	0.50189	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.330000	0.25202	0.0803:0.0:0.9197:0.0	12.657	0.56156	855	0.34697	Glycosyltransferase 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1709.98	34	chr9	98831854	.	G	A	1709.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.208e+00;DP=854;ExcessHet=0.0000;FS=2.019;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=0.717;SOR=0.529	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1338	20	0	1	0
chr9	99054627	99054627	A	G	exonic	COL15A1	.	nonsynonymous SNV	COL15A1:NM_001855:exon32:c.A3002G:p.K1001R,	.	.	422	1055	45	0	0	45	0.0208817	.	.	3210553	COL15A1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.21	T	0.993	D	0.978	D	0.000	D	0.999	D	1.5	L	1.56	T	-1.038	T	0.103	T	0.361	3.415	17.54	5.67	2.288	5.419	12.586	0.082	.	0.0058	0.0081869	0.0106	0.0014	0.0036	0.0002	0.0013	0.0095	0.0118	0.0341	0.0095988	1484	154602	rs35544077	0.0087	0.0087	0.0078	0.0095	0.0297	0.0085	0.0085	0.0288	0.0284	0.0010	0.0041	0.0262	7.559e-05	0.0011	0.0215	0.0075	0.0110	0.0297	0.0060	0.0060	0.0060	0.0060	0.0297	0.0057	0.0055	0.0257	0.0242	0.0013	0	0.0045	0.0254	0.0002	0.0010	0.0408	0.0077	0.0061	0.0297	0.089	0.32141	T	0.131	0.34596	T	0.993	0.65571	D	0.978	0.74104	D	0.000000	0.84330	D	0.051404	0.99859	0.45136	D	0.285	0.10073	N	1.56	0.29602	T	-1.18	0.30140	N	0.522	0.55193	-1.0376	0.18048	T	0.103	0.37894	T	10	0.007863045	0.00179	T	.	.	.	0.082	0.23913	.	.	.	.	0.2692407998404102	0.26837	0.369191664281	0.38448	0.616936087608	0.55296	T	0.142979	0.47885	T	-0.469727	0.00853	T	-0.424509	0.30559	T	0.0275378019383437	0.01620	T	0.884712	0.60854	D	0.1890465	0.40430	0.22869907	0.47919	0.1890465	0.40429	0.22869907	0.47918	-6.969	0.53807	T	.	.	0.182	0.39511	B	.;.	.;.	4.569001	0.72067	25.8	0.99826105706177104	0.90852	0.95609	0.65407	D	AEDBI	0.740387	0.68465	D	0.62286768409591	0.74624	6.164248	0.639144172956136	0.77805	6.750602	0.999999953136641	0.74766	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.67	5.67	0.87673	5.801000	0.68775	11.057000	0.85382	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	12.586	0.55769	850	0.35610	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.09524	10392.9	202	chr9	99054627	.	A	G	10392.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=2.56;DP=1172;ExcessHet=0.0082;FS=0.000;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=19.68;ReadPosRankSum=0.300;SOR=0.689	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1106	18	1	2	0
chr9	99218703	99218703	C	T	exonic	ALG2	.	stopgain	ALG2:NM_033087:exon2:c.G482A:p.W161X,	Myasthenic syndrome, congenital, 14, with tubular aggregates, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	5.025	29.7	5.16	2.565	7.445	19.019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.828	0.82358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597158	0.97652	D	0.62	0.97616	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	8.458503	0.97591	37	0.99695024936768817	0.80180	0.97647	0.76137	D	AEFBCI	0.261998	0.37983	N	0.920796990238025	0.92741	11.601	0.789631596824565	0.89062	9.823793	0.999999999999992	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.16	5.16	0.70563	7.503000	0.80474	7.668000	0.64620	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.912000	0.44740	0.0:1.0:0.0:0.0	19.019	0.92882	467	0.78285	Glycosyltransferase subfamily 4-like, N-terminal domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	332.5	65	chr9	99218703	.	C	T	332.5	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-3.994e+00;DP=2231;ExcessHet=1.1607;FS=161.960;InbreedingCoeff=-0.1551;MLEAC=5;MLEAF=0.125;MQ=60.00;MQRankSum=0.00;QD=0.55;ReadPosRankSum=1.94;SOR=11.886	GT:AD:DP:GQ:PL	0/0:103,24:127:23:0,23,2173	15	0	5	1
chr9	100226198	100226198	T	C	exonic	INVS	.	nonsynonymous SNV	INVS:NM_014425:exon4:c.T410C:p.M137T	Nephronophthisis 2, infantile, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1028762	Nephronophthisis|not_provided	Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.28	T	0.387	B	0.137	B	0.000	D	1.000	D	0.145	N	-0.04	T	-0.891	T	0.146	T	0.618	2.417	14.04	5.6	2.124	6.002	14.364	0.185	0.0221506676257	7.7e-05	.	5.011e-05	0	0.0002	0	0	0	0	0.0002	4.53e-05	7	154602	rs375209595	2.189e-05	2.189e-05	1.77e-05	2.613e-05	0.0005	1.584e-05	1.356e-05	0.0001	7.541e-05	0	4.472e-05	0	0	0	0.0005	1.349e-05	6.623e-05	9.279e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0004	2.18e-06	8.2e-07	7.296e-05	3.031e-05	0	0	0	0	0	0	0	0	0	0.0004	0.172	0.22660	T	0.279	0.21745	T	0.387	0.34533	B	0.137	0.33328	B	0.000000	0.84330	D	0.073552	0.999994	0.58761	D	-0.415	0.02918	N	-0.04	0.63240	T	-1.76	0.41618	N	0.487	0.52119	-0.8913	0.48820	T	0.146	0.47056	T	10	0.1903179	0.34670	T	0.022151	0.45008	T	0.185	0.45933	.	.	0.819536947123	0.81783	0.6037160227610963	0.60302	0.26696937501	0.29234	0.78254199028	0.79312	T	0.178076	0.52859	T	-0.182277	0.23397	T	-0.207456	0.53938	T	0.0856195493000292	0.10690	T	0.764923	0.39208	T	0.257446	0.48789	0.30357638	0.56388	0.257446	0.48789	0.30357638	0.56387	-9.074	0.69153	D	.	.	0.703	0.73083	P	.;.	.;.	3.035858	0.40681	21.2	0.94457779696080502	0.24894	0.97187	0.73202	D	AEBI	0.636665	0.61573	D	-0.0121139789914296	0.41308	2.468411	0.199112561042837	0.49800	3.178845	0.999937987880033	0.46732	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.6	5.6	0.84997	5.983000	0.70222	5.073000	0.47196	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	14.364	0.66358	557	0.71576	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	625.98	35	chr9	100226198	.	T	C	625.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.643;DP=782;ExcessHet=0.0000;FS=5.291;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=-1.526e+00;SOR=1.269	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1003	20	0	1	0
chr9	100450872	100450872	A	G	exonic	MSANTD3	.	nonsynonymous SNV	MSANTD3:NM_001198805:exon3:c.A734G:p.N245S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.88	P	0.636	P	.	.	1.000	D	0	N	.	.	-0.887	T	0.132	T	0.082	3.888	19.77	6.07	2.326	6.315	15.822	0.112	0.00521702868556	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362646714	2.052e-06	2.052e-06	4.084e-06	0	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.88	0.48402	P	0.636	0.51948	P	.	.	.	.	0.741162	0.81001	D	0.895	0.22405	L	.	.	.	-0.72	0.20358	N	0.407	0.44761	-0.8866	0.49223	T	0.132	0.44307	T	8	0.31870693	0.49265	T	0.005217	0.13310	T	0.112	0.31546	0.164	0.06842	0.299086750705	0.29526	0.05694255272509079	0.05635	0.72451315937	0.62398	.	.	.	0.186937	0.54039	T	-0.119128	0.33268	T	-0.408895	0.32353	T	0.706133630117537	0.41012	D	0.865913	0.56597	D	0.1777556	0.38759	0.23110819	0.48233	0.1777556	0.38758	0.23110819	0.48232	-4.167	0.26272	T	.	.	0.165	0.38245	B	.;.;.	.;.;.	3.781665	0.54376	23.5	0.99874440985220003	0.95160	0.97018	0.72215	D	AEFBI	0.745902	0.68843	D	0.392461544096541	0.61014	4.296905	0.518495384840361	0.69234	5.331591	0.999999971169579	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	6.07	6.07	0.98675	6.325000	0.72861	11.184000	0.88420	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.822	0.78430	312	0.87382	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1408.98	34	chr9	100450872	.	A	G	1408.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.093;DP=800;ExcessHet=0.0000;FS=0.779;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.99;MQRankSum=0.00;QD=15.15;ReadPosRankSum=1.22;SOR=0.648	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,911	20	0	1	0
chr9	100586052	100586052	G	T	exonic	CAVIN4	.	nonsynonymous SNV	CAVIN4:NM_001018116:exon2:c.G696T:p.E232D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.748	P	0.391	B	0.000	D	0.686	D	2.275	M	-0.01	T	-0.538	T	0.226	T	0.466	2.821	15.40	-0.005	0.025	2.418	9.011	0.209	0.0542952965466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.072	0.43344	T	0.748	0.43202	P	0.391	0.44178	B	0.000339	0.45700	D	0.000000	0.686	0.33281	D	.	.	.	-0.01	0.62762	T	-2.12	0.48184	N	0.643	0.65501	-0.5385	0.67220	T	0.226	0.59058	T	10	0.40179336	0.55619	T	0.054295	0.65801	D	0.209	0.49871	0.314	0.28935	0.176091768786	0.17195	0.12353824256206461	0.12279	0.264892400789	0.29045	0.744064152241	0.73571	T	0.09359	0.39242	T	-0.0186069	0.49052	T	-0.264504	0.48373	T	0.826832354068756	0.48286	D	0.808019	0.45805	T	0.21813367	0.44314	0.1837148	0.41379	0.21813367	0.44314	0.1837148	0.41378	-5.35	0.40435	T	.	.	0.472	0.63258	A	.	.	2.789558	0.36664	20.3	0.99776944694003344	0.86433	0.89682	0.50304	D	AEFBI	0.327484	0.42844	N	-0.13464237117704	0.35889	2.06734	-0.182656827419539	0.32173	1.827842	0.999579504001202	0.40495	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.11	-0.00478	0.13343	2.437000	0.44487	0.831000	0.21948	-0.802000	0.03151	1.000000	0.71638	0.998000	0.33993	0.484000	0.28656	0.5018:0.0:0.4982:0.0	9.011	0.35302	802	0.44336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	52.99	33	chr9	100586052	.	G	T	52.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.595e+00;DP=928;ExcessHet=0.0000;FS=103.177;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.54;ReadPosRankSum=2.94;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1309	20	0	1	0
chr9	100586054	100586054	G	C	exonic	CAVIN4	.	nonsynonymous SNV	CAVIN4:NM_001018116:exon2:c.G698C:p.R233T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.99	D	0.871	P	0.000	D	0.757	D	1.61	L	0.18	T	-0.247	T	0.299	T	0.544	3.418	17.55	5.11	2.540	6.547	16.387	0.162	0.0694887468699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.056e-05	0.0023	1.122e-05	9.893e-06	1.21e-05	6.34e-06	5.03e-06	6.75e-06	5.2e-06	0	0	3.86e-05	0	0	0	1.21e-05	1.701e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.014	0.62352	D	0.99	0.63424	D	0.871	0.61869	P	0.000129	0.49741	D	0.000000	0.756557	0.33989	D	.	.	.	0.18	0.60361	T	-2.2	0.49519	N	0.457	0.49420	-0.2468	0.76445	T	0.299	0.67055	T	10	0.46477932	0.59503	T	0.069489	0.70744	D	0.162	0.41843	0.258	0.20002	0.427139414373	0.42328	0.2341529476637619	0.23330	0.308402732697	0.33150	0.728503465652	0.71288	T	0.102534	0.41034	T	0.0341579	0.56277	T	-0.188711	0.55711	T	0.924225926399231	0.58529	D	0.90371	0.66210	D	0.2688615	0.49958	0.31724674	0.57700	0.2688615	0.49958	0.31724674	0.57700	-8.203	0.62445	D	.	.	0.675	0.71929	P	.	.	4.547406	0.71534	25.7	0.98548972411744529	0.42820	0.96446	0.69180	D	AEFBI	0.735174	0.68107	D	0.613299247454443	0.74014	6.061404	0.593538571100228	0.74475	6.143361	0.999999930882717	0.74766	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.11	5.11	0.69188	6.577000	0.73916	9.701000	0.81303	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.499000	0.28994	0.0:0.0:1.0:0.0	16.387	0.83343	802	0.44336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05	52.15	33	chr9	100586054	.	G	C	52.15	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-3.155e+00;DP=1041;ExcessHet=0.1072;FS=103.898;InbreedingCoeff=-0.0593;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=0.28;ReadPosRankSum=2.96;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:55,0:55:31:.:.:0,31,1394	18	0	2	1
chr9	100586055	100586055	G	C	exonic	CAVIN4	.	nonsynonymous SNV	CAVIN4:NM_001018116:exon2:c.G699C:p.R233S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.969	D	0.821	P	0.000	D	0.518	N	1.61	L	0.19	T	-0.496	T	0.235	T	0.557	3.095	16.34	3.24	1.288	2.061	7.494	0.196	0.0829192868762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.307e-05	0.0029	2.591e-05	2.022e-05	0.0002	1.67e-05	1.429e-05	1.949e-05	1.685e-05	6.234e-05	0	0	0	0	0.0002	2.778e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.01	0.65728	D	0.969	0.56768	D	0.821	0.59116	P	0.000129	0.49741	D	0.000000	0.517869	0.31594	N	.	.	.	0.19	0.60236	T	-1.49	0.36385	N	0.476	0.51137	-0.4964	0.68780	T	0.235	0.60197	T	10	0.47367412	0.60015	T	0.082919	0.74005	D	0.196	0.47777	0.322	0.30226	0.321672782286	0.31767	0.21857767357817443	0.21773	0.277654750267	0.30242	0.7022742033	0.67473	T	0.090632	0.38625	T	0.0182288	0.54142	T	-0.211592	0.53542	T	0.881147146224976	0.53119	D	0.89811	0.64401	D	0.2620145	0.49262	0.23967062	0.49322	0.2620145	0.49262	0.23967062	0.49321	-6.931	0.53529	T	.	.	0.856	0.80106	P	.	.	3.638836	0.51583	23.1	0.9975853377935664	0.84851	0.93365	0.58022	D	AEFBI	0.404018	0.47747	N	0.323277551888876	0.57346	3.901506	0.275658445211492	0.54123	3.578194	0.999929669172451	0.46280	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.11	3.24	0.36257	2.095000	0.41354	2.423000	0.32696	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.493000	0.28859	0.2751:0.0:0.7249:0.0	7.494	0.26646	802	0.44336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	53.24	66	chr9	100586055	.	G	C	53.24	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.805e+00;DP=1127;ExcessHet=0.1072;FS=104.887;InbreedingCoeff=-0.0479;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.29;ReadPosRankSum=2.98;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:57,0:57:38:.:.:0,38,1373	19	0	2	0
chr9	101550624	101550624	G	T	exonic	RNF20	.	nonsynonymous SNV	RNF20:NM_019592:exon10:c.G1111T:p.V371L,	.	.	.	.	.	.	.	.	.	.	.	2396423	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.45	T	0.462	P	0.092	B	0.000	D	1.000	D	0.895	L	1.38	T	-1.102	T	0.070	T	0.319	4.209	21.8	5.92	2.810	9.209	19.916	0.117	0.0135700463333	.	0.000798722	0.0001	0	0.0008	0	0	0.0001	0	0	0.0001423	22	154602	rs189985748	0.0001	0.0001	0.0001	0.0001	0.0015	0.0001	0.0001	0.0012	0.0011	2.987e-05	0.0015	0.0004	2.519e-05	0	0	8.993e-05	0.0002	0	0.0007	0.0007	0.0005	0.0010	0.0069	0.0006	0.0006	0.0059	0.0055	2.406e-05	0	0.0069	0.0003	0	0	0	7.35e-05	0	0.0002	0.096	0.31088	T	0.059	0.45961	T	0.462	0.36386	P	0.092	0.30031	B	0.000000	0.84330	D	0.050103	0.999987	0.54805	D	1.79	0.46772	L	1.38	0.34050	T	-1.17	0.29933	N	0.425	0.46462	-1.1016	0.03903	T	0.070	0.28412	T	10	0.0147533715	0.00310	T	0.01357	0.33074	T	0.117	0.32689	0.313	0.28774	0.508815697893	0.50521	0.523083834229465	0.52232	0.637984465512	0.57542	0.515682041645	0.41018	T	0.140357	0.47486	T	-0.408008	0.02050	T	-0.372082	0.36644	T	0.0789061140315127	0.09846	T	0.949505	0.80559	D	0.19039878	0.40623	0.1925561	0.42776	0.19039878	0.40623	0.1925561	0.42776	-3.521	0.16727	T	.	.	0.262	0.49702	B	.	.	4.374801	0.67387	25.1	0.99502718718589211	0.68147	0.99709	0.98858	D	AEFBI	0.889033	0.82273	D	0.269149562558024	0.54592	3.624437	0.454102150836458	0.64982	4.766303	0.999999999973705	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	9.332000	0.96418	11.750000	0.95386	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	19.916	0.97065	679	0.60090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1667.98	40	chr9	101550624	.	G	T	1667.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.631e+00;DP=821;ExcessHet=0.0000;FS=1.604;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=0.351;SOR=0.492	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1078	20	0	1	0
chr9	101594777	101594777	G	C	exonic	PPP3R2	.	nonsynonymous SNV	PPP3R2:NM_147180:exon1:c.C145G:p.L49V,	.	.	429	1091	2	0	0	2	0.000915751	.	.	2331109	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.19	T	0.605	P	0.51	P	0.105	N	1.000	N	1.705	L	-0.61	T	-0.635	T	0.271	T	0.325	-0.010	3.961	-0.077	-0.013	1.866	4.428	0.137	0.00961659688518	0.0002	.	0.0002	0	0.0004	0	0	0.0003	0	0.0001	0.0001617	25	154602	rs142403692	0.0001	0.0001	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	8.961e-05	0.0004	0	0	0	0.0026	0.0001	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	0.0002	8.163e-05	6.72e-05	6.804e-05	5.087e-05	4.81e-05	0	0.0002	0	0	0	0.0034	0.0001	0.0014	0.0002	0.231	0.18246	T	0.208	0.26883	T	.	.	.	.	.	.	0.105305	0.19664	N	0.267986	1	0.81001	D	.	.	.	-0.61	0.71779	T	-1.31	0.32791	N	0.317	0.35727	-0.6348	0.63367	T	0.271	0.64277	T	10	0.19472092	0.35294	T	0.009617	0.25153	T	0.137	0.36984	.	.	0.650239266727	0.64733	.	.	0.4211152985	0.42626	0.368713587523	0.20648	T	.	.	.	-0.268698	0.11903	T	-0.317766	0.42820	T	0.0527502393633199	0.05977	T	0.973903	0.90628	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.882367	0.38144	20.7	0.59838853316596663	0.06319	0.93025	0.57137	D	AEFBI	0.401658	0.47606	N	-0.520672689718082	0.21412	1.13617	-0.64660563436833	0.18302	0.9771153	0.0160997160019888	0.12791	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.94	-0.0771	0.13054	2.075000	0.41163	1.488000	0.26869	-0.106000	0.15538	1.000000	0.71638	0.909000	0.28100	0.592000	0.31189	0.2807:0.0:0.5614:0.1579	4.428	0.10939	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2334.98	33	chr9	101594777	.	G	C	2334.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.827e+00;DP=900;ExcessHet=0.0000;FS=1.756;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=-1.081e+00;SOR=0.576	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1363	20	0	1	0
chr9	101670272	101670272	A	C	exonic	GRIN3A	.	nonsynonymous SNV	GRIN3A:NM_133445:exon3:c.T2140G:p.F714V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.66	M	0.74	T	-0.286	T	0.335	T	0.954	4.042	20.7	5.39	2.191	9.284	15.764	0.783	0.157211535968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.595	0.75868	M	0.74	0.50459	T	-6.52	0.91695	D	0.95	0.95841	-0.2865	0.75362	T	0.335	0.70174	T	10	0.9034866	0.89712	D	0.157212	0.83784	D	0.783	0.92787	0.688	0.82558	0.765804603152	0.76366	0.9345820228013628	0.93438	0.666330335835	0.59191	0.847076773643	0.89172	D	0.725988	0.92293	D	0.287517	0.81952	D	0.175222	0.81719	D	0.998877823352814	0.95438	D	0.919908	0.71037	D	0.8612191	0.88179	0.8369732	0.90639	0.8612191	0.88181	0.8369732	0.90640	-15.917	0.97634	D	.	.	0.975	0.90273	P	.	.	5.036117	0.83793	28.1	0.99112641288365055	0.52776	0.99504	0.96829	D	AEFI	0.894689	0.83392	D	0.882232352305684	0.90861	10.60111	0.841726993174488	0.92525	11.47612	0.999998051289631	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.39	5.39	0.77615	9.325000	0.96006	11.216000	0.89583	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.764	0.77876	898	0.25240	Ionotropic glutamate receptor|Ionotropic glutamate receptor	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1040.98	81	chr9	101670272	.	A	C	1040.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.074e+00;DP=1681;ExcessHet=0.0000;FS=0.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.73;ReadPosRankSum=0.231;SOR=0.603	GT:AD:DP:GQ:PL	0/0:97,0:97:99:0,120,1800	20	0	1	0
chr9	103005658	103005658	G	A	exonic	CYLC2	.	nonsynonymous SNV	CYLC2:NM_001340:exon5:c.G1027A:p.A343T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.95	T	0.877	P	0.682	P	.	.	1.000	N	0.345	N	2.42	T	-1.075	T	0.028	T	0.037	0.776	8.096	.	0.259	-0.086	.	0.072	0.00882713347646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.562	0.09052	T	0.877	0.48223	P	0.682	0.53531	P	.	.	.	.	0.999922	0.19486	N	0	0.06538	N	2.42	0.15376	T	-0.13	0.08971	N	0.054	0.02559	-1.0747	0.08410	T	0.028	0.12147	T	7	0.079550326	0.12809	T	0.008827	0.23294	T	0.072	0.21020	0.227	0.15257	0.154104182512	0.14974	2.2433015140729094E-5	0.00002	0.00232610025833	0.00198	0.331680029631	0.15189	T	0.002921	0.02319	T	-0.407042	0.02080	T	-0.822464	0.01403	T	0.189696347943829	0.19826	T	0.285271	0.05070	T	0.06665097	0.14361	0.14013068	0.33412	0.06665097	0.14361	0.14013068	0.33411	-5.368	0.40611	T	.	.	0.073	0.05317	B	.;.;.	.;.;.	0.218202	0.06011	2.450	0.77601626828840753	0.11944	0.17404	0.19822	N	AEFGI	0.068933	0.13622	N	-0.745841452484906	0.14747	0.7372115	-0.900477734969112	0.12083	0.6194827	3.38153684950379E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-0.398000	0.07320	0.359000	0.17556	-0.254000	0.07082	0.000000	0.06391	0.652000	0.25970	0.029000	0.12982	.	.	.	506	0.75555	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	169.33	34	chr9	103005658	.	G	A	169.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-3.019e+00;DP=1430;ExcessHet=0.0000;FS=137.420;InbreedingCoeff=-0.0371;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=-4.550e-01;SOR=7.903	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1148	19	0	1	1
chr9	104569879	104569879	T	G	exonic	OR13C8	.	nonsynonymous SNV	OR13C8:NM_001004483:exon1:c.T712G:p.F238V,	.	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.989	D	0.000	D	0.625	N	3.665	H	8.27	T	-1.133	T	0.003	T	0.482	3.123	16.44	4.9	2.181	1.275	12.791	0.151	0.00379318001626	0.0002	0.000399361	0.0003	0	0.0002	0	0	0.0003	0.0011	0.0010	0.0002587	40	154602	rs150811269	0.0001	0.0001	0.0001	0.0002	0.0010	0.0001	0.0001	0.0005	0.0005	0	4.472e-05	3.826e-05	0	1.872e-05	0.0010	9.802e-05	0.0002	0.0006	0.0001	0.0002	0.0002	0.0001	0.0004	9.142e-05	7.699e-05	0.0002	0.0001	0	0	0	0	0	0	0	0.0002	0.0009	0.0004	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.989	0.78396	D	0.000021	0.55875	D	0.000000	0.625145	0.30746	N	3.115	0.87836	M	8.27	0.00268	T	-6.53	0.91741	D	0.238	0.26837	-1.1334	0.01627	T	0.003	0.01092	T	10	0.07562131	0.11710	T	0.003793	0.08837	T	0.151	0.39764	.	.	0.526592550251	0.52305	0.13363015237401754	0.13287	0.43234834177	0.43413	0.256666481495	0.04501	T	0.019983	0.15815	T	-0.357135	0.04294	T	-0.383184	0.35348	T	0.455727419305612	0.31008	T	0.793521	0.43550	T	0.9084109	0.92147	0.7566672	0.85620	0.9084109	0.92148	0.7566672	0.85621	-7.757	0.59403	D	.	.	0.318	0.54368	B	.	.	4.392023	0.67793	25.1	0.99050504859268984	0.51230	0.77064	0.37851	D	AEFI	0.240648	0.36239	N	0.685685106336443	0.78695	6.923579	0.572507054394651	0.72975	5.895488	2.31413445492756E-4	0.06095	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.9	4.9	0.63643	0.565000	0.23281	5.799000	0.49924	0.665000	0.62972	0.277000	0.25113	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	12.791	0.56914	888	0.27761	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2927.98	37	chr9	104569879	.	T	G	2927.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.427e+00;DP=1014;ExcessHet=0.0000;FS=6.388;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.01;ReadPosRankSum=-2.573e+00;SOR=0.513	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr9	104598722	104598722	G	A	exonic	OR13C5	.	nonsynonymous SNV	OR13C5:NM_001004482:exon1:c.C692T:p.S231L,	.	.	435	1079	8	0	0	8	0.00369344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.31	B	0.109	B	0.091	U	1.000	N	1.07	L	8.75	T	-0.961	T	0.000	T	0.228	2.380	13.92	-3.69	-0.563	-1.242	5.897	0.008	0.00373500810889	0.0004	0.00159744	0.0011	9.61e-05	0.0007	0	0	0.0006	0.0033	0.0051	0.0009961	154	154602	rs75216399	0.0007	0.0007	0.0005	0.0009	0.0052	0.0006	0.0006	0.0048	0.0046	0.0011	0.0004	3.827e-05	0	1.872e-05	0.0050	0.0003	0.0011	0.0052	0.0006	0.0006	0.0005	0.0006	0.0052	0.0005	0.0004	0.0036	0.0031	0.0002	0	0.0004	0	0	9.432e-05	0.0068	0.0006	0.0019	0.0052	0.018	0.50676	D	0.022	0.57587	D	0.31	0.32798	B	0.109	0.31370	B	0.090941	0.20350	U	0.241453	1	0.08975	N	1.16	0.29674	L	8.75	0.00077	T	-2.04	0.46842	N	0.121	0.11197	-0.9611	0.38974	T	0.000	0.00114	T	10	0.004368484	0.00089	T	0.003735	0.08651	T	0.008	0.00669	.	.	0.24933006939	0.24537	0.09155794825137195	0.09088	0.577723116485	0.53685	0.187496125698	0.00184	T	0.005424	0.04871	T	-0.613792	0.00120	T	-0.653905	0.08682	T	0.0755495990053487	0.09409	T	0.881912	0.60169	D	0.06604982	0.14174	0.08250999	0.18837	0.06604982	0.14173	0.08250999	0.18837	-6.066	0.46828	T	.	.	0.089	0.12132	B	.	.	2.045602	0.26006	16.96	0.97670736589121576	0.35253	0.04976	0.10745	N	AEFI	0.072787	0.14537	N	-0.983645407160908	0.08953	0.4217742	-1.11581527755738	0.07398	0.3596803	5.79360732993064E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.03	-3.69	0.04162	-0.604000	0.05763	-20.000000	0.00162	0.614000	0.49286	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2576:0.3891:0.3533:0.0	5.897	0.18188	892	0.26670	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2341.98	159	chr9	104598722	.	G	A	2341.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.490e-01;DP=2476;ExcessHet=0.0000;FS=6.272;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.01;ReadPosRankSum=-3.060e-01;SOR=0.443	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1358	20	0	1	0
chr9	104618031	104618031	A	-	exonic	OR13C9	.	frameshift deletion	OR13C9:NM_001001956:exon1:c.174delT:p.M59Cfs*24,	.	.	425	1078	19	0	0	19	0.00873563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0028	0.000798722	0.0026	0.0004	0.0009	0	0.0011	0.0036	0.0033	0.0030	0.0002305	6	26028	rs542228686	0.0035	0.0035	0.0035	0.0035	0.0049	0.0034	0.0034	0.0039	0.0038	0.0007	0.0012	0.0027	2.519e-05	0.0016	0.0049	0.0040	0.0033	0.0029	0.0022	0.0022	0.0026	0.0019	0.0038	0.0020	0.0020	0.0034	0.0033	0.0005	0	0.0014	0.0023	0	0.0011	0	0.0038	0.0024	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3828.94	217	chr9	104618030	.	TA	T	3828.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.15;DP=3054;ExcessHet=0.0000;FS=1.595;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=51.67;MQRankSum=-1.056e+00;QD=16.58;ReadPosRankSum=-3.600e-01;SOR=0.579	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1221	20	0	1	0
chr9	104694802	104694802	T	G	exonic	OR13D1	.	nonsynonymous SNV	OR13D1:NM_001004484:exon1:c.T381G:p.I127M,	.	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.099	B	0.053	B	0.352	N	1.000	N	0.82	L	7.57	T	-0.977	T	0.001	T	0.19	-1.302	0.037	2.57	0.484	-0.751	8.26	0.008	.	.	0.00139776	0.0012	9.61e-05	8.637e-05	0.0151	0	4.495e-05	0	0.0006	0.0009961	154	154602	rs145961687	0.0004	0.0004	0.0004	0.0004	0.0091	0.0003	0.0003	0.0083	0.0080	5.974e-05	2.236e-05	0.0003	0.0091	1.872e-05	0.0009	7.644e-05	0.0003	0.0006	0.0005	0.0005	0.0005	0.0006	0.0122	0.0004	0.0004	0.0098	0.0089	2.405e-05	0	6.54e-05	0.0006	0.0122	0	0	2.94e-05	0.0005	0.0017	0.097	0.30943	T	0.223	0.25670	T	0.099	0.25639	B	0.053	0.25678	B	0.352431	0.13795	N	0.634263	1	0.08975	N	0.14	0.08730	N	7.57	0.00366	T	-0.24	0.10833	N	0.134	0.13055	-0.9770	0.35683	T	0.001	0.00188	T	10	0.0055148005	0.00122	T	.	.	.	0.008	0.00669	.	.	0.101711395817	0.09552	0.040797502088583945	0.04024	0.0261378392519	0.02667	0.180021569133	0.00094	T	0.001646	0.01075	T	-0.654041	0.00068	T	-0.699937	0.05829	T	0.0184980049822226	0.00566	T	0.119888	0.00926	T	0.08140499	0.18704	0.07149282	0.15317	0.08140499	0.18704	0.07149282	0.15316	-4.353	0.28914	T	.	.	0.074	0.05060	B	.;.	.;.	1.030447	0.14106	10.68	0.14321184457444314	0.00312	0.09327	0.15105	N	AEFDGI	0.091556	0.18544	N	-1.08299022590462	0.06956	0.3217421	-1.11684723541901	0.07378	0.358653	1.0271264249676E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.75	2.57	0.29928	-1.398000	0.02615	-2.992000	0.03160	-0.179000	0.10443	0.000000	0.06391	0.000000	0.08366	0.151000	0.20341	0.0:0.0:0.2022:0.7978	8.26	0.30940	883	0.28872	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1647.98	144	chr9	104694802	.	T	G	1647.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.411e+00;DP=2077;ExcessHet=0.0000;FS=2.981;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.86;MQRankSum=0.921;QD=11.44;ReadPosRankSum=0.307;SOR=0.532	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1263	20	0	1	0
chr9	104694845	104694845	A	G	exonic	OR13D1	.	nonsynonymous SNV	OR13D1:NM_001004484:exon1:c.A424G:p.T142A,	.	.	433	1035	54	0	0	54	0.0254237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.889	P	0.46	P	0.002	N	1.000	N	1.79	L	4.45	T	-1.011	T	0.008	T	0.275	2.495	14.30	3.75	1.560	0.088	10.433	0.043	.	0.0029	0.00539137	0.0056	0.0006	0.0030	0	0.0003	0.0034	0.0077	0.0246	0.0050323	778	154602	rs139937095	0.0039	0.0039	0.0031	0.0046	0.0233	0.0038	0.0038	0.0224	0.0221	0.0003	0.0023	0.0246	0	0.0002	0.0179	0.0022	0.0058	0.0233	0.0027	0.0027	0.0025	0.0030	0.0174	0.0025	0.0024	0.0144	0.0133	0.0005	0	0.0027	0.0308	0.0006	0	0.0034	0.0022	0.0052	0.0174	0.001	0.78490	D	0.061	0.45530	T	0.889	0.48869	P	0.46	0.46423	P	0.002207	0.37012	N	0.121018	1	0.08975	N	1.56	0.39490	L	4.45	0.02121	T	-4.85	0.81107	D	0.056	0.02759	-1.0109	0.26635	T	0.008	0.02926	T	10	0.0064913332	0.00147	T	.	.	.	0.043	0.11576	.	.	0.346768085243	0.34289	0.17119933839543708	0.17039	0.0913270158701	0.10314	0.211758986115	0.00888	T	0.006661	0.06088	T	-0.558641	0.00259	T	-0.556301	0.16727	T	0.0682928540585661	0.08410	T	0.577142	0.20757	T	0.453373	0.64255	0.6090316	0.77262	0.453373	0.64255	0.6090316	0.77263	-6.246	0.48293	T	.	.	0.088	0.11797	B	.;.	.;.	2.845789	0.37553	20.5	0.99637367300904922	0.76449	0.06597	0.12612	N	AEFDGI	0.071517	0.14241	N	-0.137321255061406	0.35777	2.059277	-0.253945567421244	0.29635	1.661925	3.58516400389856E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.75	3.75	0.42236	0.037000	0.13728	4.788000	0.44881	0.733000	0.85838	0.000000	0.06391	0.255000	0.23945	0.716000	0.34643	1.0:0.0:0.0:0.0	10.433	0.43603	883	0.28872	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3995.11	136	chr9	104694845	.	A	G	3995.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.45;DP=2288;ExcessHet=0.1072;FS=0.394;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.88;MQRankSum=0.808;QD=11.82;ReadPosRankSum=0.799;SOR=0.667	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1263	19	0	2	0
chr9	104766374	104766374	A	G	exonic	NIPSNAP3B	.	nonsynonymous SNV	NIPSNAP3B:NM_018376:exon2:c.A110G:p.Y37C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.995	M	0.52	T	-0.392	T	0.347	T	0.862	2.020	12.71	2.79	0.673	6.656	8.193	0.482	0.035542097363	.	.	1.648e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs141665560	4.789e-06	4.788e-06	6.808e-06	2.751e-06	0.0001	1.99e-06	1.28e-06	5.851e-05	3.759e-05	0.0001	0	0	2.522e-05	0	0	0	1.656e-05	0	4.598e-05	4.593e-05	5.141e-05	4.03e-05	0.0002	2.108e-05	1.526e-05	6.269e-05	4.29e-05	0.0001	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999992	0.58761	D	3.485	0.92608	M	0.52	0.55266	T	-8.21	0.96839	D	0.917	0.91968	-0.3923	0.72269	T	0.347	0.71194	T	10	0.94728124	0.94056	D	0.035542	0.56416	D	0.482	0.77206	0.764	0.89213	0.700102871335	0.69750	0.9052184040621467	0.90494	0.258188672319	0.28376	0.591320216656	0.51681	T	0.333384	0.70324	T	0.118137	0.66184	D	0.168588	0.81327	D	0.998286545276642	0.93725	D	0.972803	0.90184	D	0.9338277	0.94621	0.8962361	0.94709	0.9338277	0.94622	0.8962361	0.94709	-9.429	0.70417	D	.	.	0.249	0.48397	B	.	.	4.496469	0.70292	25.5	0.99663527215606984	0.78074	0.53688	0.29432	D	AEFGBCI	0.632073	0.61282	D	0.491525303593438	0.66594	4.970329	0.318316151744605	0.56616	3.825185	0.999942790740427	0.47345	0.615465	0.37627	0	0.633656	0.55848	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.93	2.79	0.31792	7.155000	0.77033	7.951000	0.75833	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.626000	0.32052	0.9002:0.0:0.0998:0.0	8.193	0.30539	920	0.19381	NIPSNAP	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1860.98	35	chr9	104766374	.	A	G	1860.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.896;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.65;ReadPosRankSum=0.088;SOR=0.650	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	20	0	1	0
chr9	104791984	104791984	C	G	exonic	ABCA1	.	nonsynonymous SNV	ABCA1:NM_005502:exon43:c.G5772C:p.K1924N,	HDL deficiency, type 2;Tangier disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.247	B	0.088	B	0.000	D	1.000	D	1.415	L	-3.17	D	0.200	D	0.664	D	0.234	2.553	14.50	4.92	1.467	0.703	9.087	0.335	0.06221081517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0012	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0	0	5.055e-05	0	0	0.0002	0.0001	4.657e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	0.19639	T	0.091	0.40110	T	0.247	0.31125	B	0.088	0.29688	B	0.000000	0.84330	D	0.045089	0.999755	0.48800	D	1.13	0.28900	L	-3.17	0.93054	D	-1.21	0.30762	N	0.552	0.57775	0.200	0.85915	D	0.664	0.88344	D	10	0.61665916	0.67744	D	0.062211	0.68581	D	0.335	0.65718	0.505	0.59924	0.9309695667	0.93025	0.7757620043553375	0.77526	0.840773140511	0.68051	0.697716891766	0.66815	T	0.417549	0.77016	T	0.0336622	0.56210	T	-0.189423	0.55645	T	0.914153516292572	0.57069	D	0.827217	0.49094	T	0.21141762	0.43466	0.13099158	0.31463	0.21141762	0.43466	0.13099158	0.31462	-2.565	0.06242	T	0.3071058489311145	0.40482	0.557	0.67094	A	.	.	3.371619	0.46592	22.3	0.995040822481701	0.68206	0.88309	0.48179	D	ALL	0.483156	0.52372	N	-0.0355436023887051	0.40251	2.387167	0.105231415740194	0.44815	2.756065	0.999999999999994	0.74766	0.651	0.46895	0	0.573888	0.26702	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.82	4.92	0.64147	1.071000	0.30278	1.106000	0.24114	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.733:0.0:0.267	9.087	0.35749	950	0.11238	ABC transporter-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	133.7	66	chr9	104791984	.	C	G	133.7	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.995e+00;DP=1874;ExcessHet=0.3300;FS=259.479;InbreedingCoeff=-0.0772;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.37;ReadPosRankSum=1.26;SOR=11.043	GT:AD:DP:GQ:PL	0/1:96,36:132:20:20,0,1795	18	0	3	0
chr9	104817352	104817352	T	C	exonic	ABCA1	.	nonsynonymous SNV	ABCA1:NM_005502:exon24:c.A3515G:p.E1172G,	HDL deficiency, type 2;Tangier disease, Autosomal recessive	.	0	1514	8	0	0	8	0.00263505	.	.	1533876	not_provided|not_specified|Cardiovascular_phenotype	MedGen:C3661900|MedGen:CN169374|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.39	T	0.001	B	0.003	B	0.000	D	1.000	D	1.355	L	-1.82	D	-0.351	T	0.467	T	0.578	3.097	16.34	5.88	2.246	5.981	16.301	0.242	0.0417735243479	7.7e-05	0.00219649	0.0013	0	0.0003	0	0	0.0002	0.0011	0.0089	0.0011578	179	154602	rs142877738	0.0007	0.0007	0.0004	0.0009	0.0095	0.0006	0.0006	0.0089	0.0087	0	6.708e-05	0	2.519e-05	0	0.0019	8.723e-05	0.0007	0.0095	0.0003	0.0003	0.0001	0.0004	0.0077	0.0002	0.0002	0.0057	0.0050	0	0	0	0	0	0	0	8.82e-05	0	0.0077	0.266	0.16251	T	0.357	0.17115	T	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.047798	1	0.81001	D	2.31	0.66127	M	-1.82	0.84047	D	-0.58	0.17417	N	0.661	0.67045	-0.3506	0.73536	T	0.467	0.79449	T	10	0.009284675	0.00210	T	0.041774	0.60110	D	0.242	0.54781	.	.	0.902338567141	0.90136	0.6312349425787799	0.63057	0.43613436949	0.43717	0.698027729988	0.66859	T	0.292333	0.66506	T	-0.217907	0.18280	T	-0.0785352	0.65011	T	0.0398968237543268	0.03671	T	0.821218	0.48050	T	0.29431915	0.52391	0.14623089	0.34652	0.29431915	0.52391	0.14623089	0.34651	-2.547	0.06111	T	0.1327287155627337	0.14178	0.234	0.46722	B	.	.	4.379469	0.67488	25.1	0.99713336362742777	0.81493	0.98983	0.89528	D	AEFDBI	0.807084	0.73122	D	0.0166659872869543	0.42613	2.570887	0.223228450342942	0.51139	3.299079	0.999999999979984	0.74766	0.740787	0.97801	0	0.59043	0.45803	0	0.65145	0.50148	0	0.673998	0.66042	0	.	.	5.88	5.88	0.94564	5.957000	0.70042	7.853000	0.71059	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.301	0.82641	947	0.11584	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2047.98	34	chr9	104817352	.	T	C	2047.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.441;DP=854;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.84;ReadPosRankSum=-3.780e-01;SOR=0.743	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1575	20	0	1	0
chr9	104837095	104837095	A	G	exonic	ABCA1	.	nonsynonymous SNV	ABCA1:NM_005502:exon11:c.T1196C:p.V399A,	HDL deficiency, type 2;Tangier disease, Autosomal recessive	.	2	1507	13	0	0	13	0.00429468	0.0211	0.148	316093	Hypoalphalipoproteinemia,_primary,_1|Tangier_disease|Cardiovascular_phenotype|not_specified|not_provided	MONDO:MONDO:0011393,MedGen:C5231558,OMIM:604091,Orphanet:425|MONDO:MONDO:0008783,MedGen:C0039292,OMIM:205400,Orphanet:31150|MedGen:CN230736|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.109	B	0.071	B	0.000	D	1.000	D	0.995	L	-1.83	D	-0.504	T	0.325	T	0.76	0.752	7.986	5.7	2.170	8.910	15.966	0.506	0.030297797865	0.0038	0.00199681	0.0035	0.0009	0.0033	0	0.0008	0.0053	0	0.0014	0.0035381	547	154602	rs9282543	0.0046	0.0046	0.0047	0.0045	0.0062	0.0045	0.0045	0.0051	0.0051	0.0008	0.0028	0.0129	0	0.0007	0.0062	0.0052	0.0049	0.0012	0.0035	0.0035	0.0038	0.0033	0.0057	0.0033	0.0032	0.0053	0.0051	0.0011	0	0.0021	0.0136	0	0.0008	0.0102	0.0057	0.0047	0.0006	0.911	0.02361	T	1.0	0.01155	T	0.109	0.26142	B	0.071	0.27960	B	0.000000	0.84330	D	0.000000	0.999993	0.58761	D	1.02	0.25474	L	-1.83	0.84122	D	0.2	0.04861	N	0.885	0.88356	-0.5038	0.68512	T	0.325	0.69324	T	10	0.018427223	0.00401	T	0.030298	0.52638	D	0.506	0.78724	.	.	0.88467983427	0.88354	0.8064539770788843	0.80600	0.313848368464	0.33672	0.6139716506	0.54876	T	0.240071	0.60832	T	-0.125284	0.32262	T	0.0487669	0.73503	D	0.0243171223685156	0.01184	T	0.873013	0.58094	D	0.45237097	0.64191	0.2620861	0.51996	0.45237097	0.64192	0.2620861	0.51995	-3.825	0.21178	T	0.20332149171123126	0.27067	0.544	0.66532	A	.	.	3.967966	0.58246	24.0	0.61862214878713151	0.06816	0.98774	0.86679	D	AEFBI	0.923586	0.90029	D	-0.0379467295626377	0.40143	2.378968	0.183708304341091	0.48956	3.104641	0.999999956855704	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.65145	0.50148	0	0.669	0.65921	0	.	.	5.7	5.7	0.88690	7.145000	0.76950	11.215000	0.89546	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	1.0:0.0:0.0:0.0	15.966	0.79764	937	0.14592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1906.98	33	chr9	104837095	.	A	G	1906.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.078;DP=826;ExcessHet=0.0000;FS=4.878;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.44;ReadPosRankSum=0.951;SOR=1.238	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1234	20	0	1	0
chr9	104840305	104840305	G	A	exonic	ABCA1	.	nonsynonymous SNV	ABCA1:NM_005502:exon9:c.C1028T:p.A343V,	HDL deficiency, type 2;Tangier disease, Autosomal recessive	.	0	1510	11	1	0	13	0.00428619	.	.	316106	ABCA1-related_disorder|Cardiovascular_phenotype|Hypoalphalipoproteinemia,_primary,_1|Tangier_disease|not_provided	MedGen:CN239173|MedGen:CN230736|MONDO:MONDO:0011393,MedGen:C5231558,OMIM:604091,Orphanet:425|MONDO:MONDO:0008783,MedGen:C0039292,OMIM:205400,Orphanet:31150|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.35	T	0.0	B	0.001	B	0.434	N	1.000	N	-0.255	N	-2.34	D	-0.764	T	0.342	T	0.037	1.416	10.67	2.93	1.148	2.121	11.631	0.191	0.0169071126842	0.0002	.	0.0008	0	0.0002	0	0	0.0003	0.0011	0.0047	0.0006727	104	154602	rs200030513	0.0005	0.0005	0.0003	0.0006	0.0051	0.0004	0.0004	0.0047	0.0045	0	6.708e-05	3.826e-05	0	0	0.0012	0.0002	0.0004	0.0051	0.0003	0.0003	0.0002	0.0004	0.0044	0.0002	0.0002	0.0029	0.0025	2.405e-05	0	0.0002	0	0	0.0002	0	0.0003	0	0.0044	0.376	0.11334	T	0.406	0.14725	T	0.0	0.02946	B	0.001	0.04355	B	0.434489	0.12707	N	0.768784	1	0.08975	N	-0.405	0.02972	N	-2.34	0.87989	D	-1.04	0.27259	N	0.04	0.01347	-0.7640	0.57187	T	0.342	0.70746	T	10	0.002936691	0.00047	T	0.016907	0.38384	T	0.191	0.46948	.	.	0.811903216846	0.81013	0.3203209681103329	0.31945	0.173858297058	0.19575	0.322019129992	0.13727	T	0.362975	0.72880	T	-0.525069	0.00411	T	-0.525911	0.19698	T	0.0103782995343705	0.00142	T	0.728627	0.34357	T	0.035530593	0.04199	0.060684662	0.11598	0.035530593	0.04199	0.060684662	0.11598	-3.39	0.14922	T	0.10225605493523307	0.07751	0.070	0.03336	B	.	.	1.559287	0.19974	14.53	0.97100531275698421	0.32366	0.22500	0.21767	N	AEFDBI	0.138024	0.25918	N	-0.585485417012778	0.19385	1.014112	-0.421100702019546	0.24378	1.334655	0.999992620855161	0.74766	0.562547	0.31514	0	0.627178	0.54094	0	0.608884	0.39905	0	0.616125	0.45549	0	.	.	5.19	2.93	0.33092	1.428000	0.34501	2.783000	0.34747	0.676000	0.76740	0.003000	0.16062	0.097000	0.22620	0.996000	0.76049	0.2257:0.0:0.7743:0.0	11.631	0.50432	937	0.14592	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	858.98	33	chr9	104840305	.	G	A	858.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=797;ExcessHet=0.0000;FS=3.533;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=0.442;SOR=1.175	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1480	20	0	1	0
chr9	105468272	105468272	G	T	exonic	FSD1L	.	nonsynonymous SNV	FSD1L:NM_001287191:exon3:c.G191T:p.S64I	.	.	478	1025	16	3	0	22	0.0106178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.979	D	0.83	P	0.000	U	1.000	D	1.61	L	0.89	T	-0.986	T	0.146	T	0.51	4.170	21.6	5.98	2.843	5.539	19.208	0.104	.	0.0070	0.00419329	0.0115	0.0021	0.0073	0	0.0134	0.0096	0.0039	0.0182	0.0030401	470	154602	rs41316532	0.0090	0.0085	0.0087	0.0093	0.0154	0.0089	0.0088	0.0146	0.0143	0.0008	0.0024	0.0041	0	0.0150	0.0107	0.0090	0.0085	0.0154	0.0065	0.0065	0.0065	0.0066	0.0160	0.0062	0.0061	0.0131	0.0120	0.0015	0	0.0032	0.0035	0	0.0148	0.0102	0.0092	0.0047	0.0160	0.373	0.15613	T	0.005	0.72224	D	0.958	0.55854	D	0.731	0.55321	P	0.000001	0.84330	U	0.000000	0.998917	0.81001	D	2.125	0.59049	M	0.89	0.45636	T	-1.88	0.43906	N	0.245	0.35194	-0.9864	0.33494	T	0.146	0.47003	T	10	0.0062506497	0.00141	T	.	.	.	0.104	0.29647	.	.	.	.	0.2526506555990148	0.25179	.	.	0.504707276821	0.39484	T	0.011386	0.20890	T	-0.399336	0.02338	T	-0.334071	0.41014	T	0.0199375652469306	0.00694	T	0.822018	0.48435	T	0.35095847	0.57142	0.24878375	0.50436	0.35095847	0.57142	0.24878375	0.50435	-4.993	0.42883	T	.	.	0.176	0.43680	B	.;.;.;.;.;.	.;.;.;.;.;.	3.857481	0.55922	23.7	0.99604712883829216	0.74456	0.96286	0.68399	D	AEFBI	0.544310	0.55929	D	0.54594108279199	0.69835	5.413843	0.618877642340096	0.76313	6.467733	0.999999998718641	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.98	5.98	0.97147	4.657000	0.61185	4.480000	0.43530	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.208	0.93728	960	0.08626	B-box, C-terminal;B-box, C-terminal;.;B-box, C-terminal;B-box, C-terminal;B-box, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	616.98	37	chr9	105468272	.	G	T	616.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.380e-01;DP=778;ExcessHet=0.0000;FS=0.875;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.71;ReadPosRankSum=-2.853e+00;SOR=0.762	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1040	20	0	1	0
chr9	105471961	105471961	G	T	exonic	FSD1L	.	nonsynonymous SNV	FSD1L:NM_001287191:exon4:c.G301T:p.A101S	.	.	538	958	24	2	0	28	0.0144033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.997	D	0.000	U	1.000	D	1.995	M	0.97	T	-0.714	T	0.187	T	0.573	4.244	22.1	4.94	2.425	6.455	17.286	0.191	.	0.0088	0.00319489	0.0081	0.0021	0	0	0.0080	0.0129	0.0121	0.0056	0.0025679	397	154602	rs117347201	0.0090	0.0086	0.0090	0.0091	0.0184	0.0089	0.0088	0.0155	0.0144	0.0017	0.0082	0.0179	3.636e-05	0.0079	0.0184	0.0094	0.0097	0.0056	0.0080	0.0080	0.0079	0.0082	0.0113	0.0076	0.0075	0.0102	0.0099	0.0019	0	0.0113	0.0185	0	0.0099	0.0213	0.0108	0.0117	0.0062	0.007	0.65419	D	0.033	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000015	0.62929	U	0.000000	0.874791	0.81001	D	2.505	0.72935	M	0.97	0.42502	T	-2.77	0.58733	D	0.597	0.68429	-0.7143	0.59741	T	0.187	0.53707	T	10	0.0049656928	0.00106	T	.	.	.	0.191	0.46948	.	.	0.526943034955	0.52341	0.36103982382109684	0.36017	.	.	0.682937860489	0.64690	T	0.039	0.29591	T	-0.343202	0.05169	T	-0.256367	0.49187	T	0.0154957271314856	0.00350	T	0.965903	0.88824	D	0.30125758	0.53017	0.33402807	0.59233	0.30125758	0.53017	0.33402807	0.59233	-6.333	0.59485	T	.	.	0.396	0.59353	A	.;.;.;.;.;.	.;.;.;.;.;.	4.704761	0.75520	26.3	0.9960850462564681	0.74634	0.94107	0.60133	D	AEFBI	0.627507	0.60994	D	0.709707811512654	0.80268	7.257006	0.686248716511135	0.81334	7.502418	0.999965478769355	0.48965	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.528226	0.09195	0	.	.	4.94	4.94	0.64645	6.915000	0.75593	11.662000	0.93998	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	17.286	0.87029	960	0.08626	B-box, C-terminal;B-box, C-terminal;.;B-box, C-terminal;B-box, C-terminal;B-box, C-terminal	FKTN|FKTN|FKTN|FKTN|FKTN	Artery_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1019.98	42	chr9	105471961	.	G	T	1019.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.071;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=-1.155e+00;SOR=0.667	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,940	20	0	1	0
chr9	105604227	105604227	C	T	exonic	FKTN	.	nonsynonymous SNV	FKTN:NM_001351498:exon5:c.C382T:p.R128W	Cardiomyopathy, dilated, 1X, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, Autosomal recessive	YES	0	1519	3	0	0	3	0.000986518	.	.	258525	Cardiovascular_phenotype|Walker-Warburg_congenital_muscular_dystrophy|not_provided	MedGen:CN230736|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orphanet:899|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.003	B	0.001	B	0.705	N	0.996	D	0.41	N	-1.62	D	-0.341	T	0.513	D	0.482	2.165	13.20	4.17	1.119	2.679	8.439	0.379	0.0333464837821	.	.	4.945e-05	0	8.663e-05	0	0	5.995e-05	0	6.057e-05	3.88e-05	6	154602	rs767026996	2.123e-05	2.189e-05	9.54e-06	3.304e-05	0.0001	1.522e-05	1.326e-05	8.003e-05	6.241e-05	2.992e-05	2.236e-05	0	0	0	0	1.079e-05	8.301e-05	0.0001	1.971e-05	1.969e-05	0	4.031e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.535e-05	0	0	0	0	1.47e-05	0	0.0002	0.053	0.38863	T	0.079	0.42086	T	0.001	0.07471	B	0.0	0.01387	B	0.704993	0.10062	N	0.878706	0.995922	0.42925	D	0.695	0.17993	N	-2.46	0.91019	D	-1.89	0.62151	N	0.418	0.46742	-0.3411	0.73812	T	0.513	0.81714	D	10	0.2543642	0.42814	T	0.033346	0.54917	D	0.379	0.69696	0.445	0.50302	0.806406756828	0.80459	0.6168817100914664	0.61620	0.161743901965	0.18254	0.23783737421	0.02599	T	0.314321	0.68601	T	-0.0625101	0.42515	T	-0.14604	0.59592	T	0.0385499353610001	0.03430	T	0.836416	0.50788	T	0.054137107	0.10346	0.06881928	0.14421	0.054137107	0.10346	0.06881928	0.14420	-7.321	0.56345	T	0.20868239779575906	0.27919	0.067	0.09094	B	.;.;.;.	.;.;.;.	3.417184	0.47432	22.5	0.99555713625536346	0.71459	0.91617	0.53903	D	AEFBI	0.459827	0.51027	N	-0.258168337079731	0.30778	1.719401	-0.074357186268741	0.36454	2.121693	0.0232074840961546	0.13490	0.706548	0.73137	0	0.546412	0.12157	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.07	4.17	0.48303	2.347000	0.43692	1.063000	0.23738	0.599000	0.40250	0.978000	0.35038	0.500000	0.25199	0.960000	0.51673	0.1624:0.7548:0.0:0.0829	8.439	0.31967	956	0.09877	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3061.98	38	chr9	105604227	.	C	T	3061.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.68;DP=877;ExcessHet=0.0000;FS=7.414;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.50;ReadPosRankSum=1.21;SOR=1.238	GT:AD:DP:GQ:PL	0/1:72,103:175:99:3076,0,1869	20	0	1	0
chr9	106929294	106929294	C	G	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_021224:exon3:c.C5382G:p.F1794L,	.	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.997	D	0.984	D	0.000	D	1.000	D	0.695	N	3.73	T	-1.099	T	0.035	T	0.797	3.282	17.02	4.25	0.911	1.523	10.066	0.190	0.0196948259482	0.0003	.	0.0003	0.0002	8.643e-05	0	0.0002	0.0005	0	0	0.0002652	41	154602	rs148824453	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0	0.0002	0.0007	0	0.0002	0.0003	0.0003	0.0004	9.275e-05	0.0003	0.0003	0.0003	0.0003	0.0007	0.0002	0.0002	0.0004	0.0003	4.815e-05	0	0.0007	0.0006	0	0	0.0034	0.0004	0	0	0.004	0.65419	D	0.0	0.92824	D	0.997	0.70673	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.46	0.12951	N	3.23	0.06931	T	-2.02	0.50666	N	0.425	0.55280	-1.0992	0.04189	T	0.035	0.14987	T	10	0.1063613	0.19705	T	0.019695	0.42129	T	0.190	0.46781	0.353	0.35246	0.117191471859	0.11215	0.482658108758287	0.48185	0.886748449925	0.70032	0.933324933052	0.99164	D	0.026775	0.20149	T	-0.217619	0.18319	T	-0.205433	0.54132	T	0.0398611725048257	0.03665	T	0.887811	0.64469	D	0.35343617	0.57333	0.24804012	0.50347	0.35343617	0.57333	0.24804012	0.50346	-6.061	0.46786	T	.	.	0.993	0.96661	P	.;.;.	.;.;.	3.677049	0.52319	23.2	0.99729913588324881	0.82690	0.93454	0.58260	D	AEFDBI	0.431977	0.49404	N	0.325394603805368	0.57454	3.912908	0.34837468276017	0.58408	4.011283	0.999999275862744	0.74766	0.67177	0.52595	0	0.446627	0.06534	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	6.08	4.25	0.49658	1.562000	0.35961	1.761000	0.28554	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.7966:0.0:0.2034	10.066	0.41474	676	0.60355	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	3011.98	36	chr9	106929294	.	C	G	3011.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.87;DP=2088;ExcessHet=0.0000;FS=4.943;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.06;ReadPosRankSum=0.462;SOR=1.046	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1225	20	0	1	0
chr9	106974250	106974250	T	C	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.T4214C:p.I1405T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.999	D	0.991	D	0.000	D	1.000	D	0.53	N	4.0	T	-1.074	T	0.061	T	0.838	4.266	22.3	5.66	2.151	7.665	15.905	0.332	0.0225480179474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.0	0.92824	D	0.998	0.73220	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.575	0.39704	L	3.38	0.05778	T	-0.68	0.36980	N	0.873	0.87049	-1.0740	0.08556	T	0.061	0.25455	T	10	0.3783521	0.54005	T	0.022548	0.45449	T	0.332	0.65424	0.419	0.46036	0.043077524339	0.03247	0.5838881706070325	0.58317	2.02329959298	0.94019	0.924512147903	0.98647	D	0.011805	0.11071	T	0.105501	0.64882	D	-0.0862318	0.64445	T	0.798904538154602	0.46279	D	0.963604	0.86445	D	0.1377539	0.31884	0.16932428	0.38958	0.1377539	0.31884	0.16932428	0.38957	-11.857	0.84147	D	.	.	0.989	0.94382	P	.;.;.	.;.;.	4.830708	0.78774	27.0	0.99799257148110543	0.88461	0.98380	0.82188	D	AEFBI	0.909931	0.86721	D	0.462121070414506	0.64895	4.754563	0.527672054984196	0.69859	5.42084	0.999999998491949	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	7.645000	0.82580	6.207000	0.54965	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	15.905	0.79209	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.2812	2879.53	98	chr9	106974250	.	T	C	2879.53	.	AC=9;AF=0.281;AN=32;BaseQRankSum=-3.477e+00;DP=2598;ExcessHet=4.7172;FS=245.377;InbreedingCoeff=-0.3916;MLEAC=11;MLEAF=0.344;MQ=60.00;MQRankSum=0.00;QD=1.97;ReadPosRankSum=1.47;SOR=12.123	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:93,0:93:0:.:.:0,0,1655	7	0	9	5
chr9	106974252	106974252	G	A	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.G4216A:p.D1406N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	1.0	D	0.997	D	0.000	D	1.000	D	0.845	L	4.01	T	-1.115	T	0.065	T	0.14	5.527	35	5.66	2.662	9.434	19.759	0.240	0.0408367045235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.9	0.50570	L	3.42	0.05507	T	-1.1	0.35991	N	0.785	0.79503	-1.1146	0.02703	T	0.065	0.26772	T	10	0.41275227	0.56336	T	0.040837	0.59597	D	0.240	0.54500	0.441	0.49648	0.138757226776	0.13463	0.7163974984860814	0.71582	1.77884305262	0.91374	0.91669100523	0.98061	D	0.018486	0.14891	T	-0.186331	0.22798	T	-0.505428	0.21785	T	0.864430676400788	0.51459	D	0.975002	0.91107	D	0.1619377	0.36236	0.1629017	0.37816	0.1619377	0.36236	0.1629017	0.37816	-10.165	0.76340	D	.	.	0.990	0.93507	P	.;.;.	.;.;.	5.368506	0.90010	31	0.99920868308788402	0.98721	0.99180	0.92409	D	AEFBI	0.912600	0.87345	D	0.658390178150991	0.76912	6.574868	0.70769665526324	0.82963	7.898997	0.999999999998965	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	9.564000	0.97283	11.869000	0.98523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	19.759	0.96302	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.075	989.01	80	chr9	106974252	.	G	A	989.01	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-4.111e+00;DP=1533;ExcessHet=0.3300;FS=217.469;InbreedingCoeff=-0.0966;MLEAC=3;MLEAF=0.075;MQ=60.00;MQRankSum=0.00;QD=2.22;ReadPosRankSum=2.52;SOR=9.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485	17	0	3	1
chr9	107488053	107488053	G	T	exonic	KLF4	.	nonsynonymous SNV	KLF4:NM_001314052:exon3:c.C341A:p.T114N	.	.	.	.	.	.	.	.	.	.	.	2797408	KLF4-related_disorder	.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.0	B	0.001	B	0.977	N	0.984	N	0.345	N	3.55	T	-0.960	T	0.009	T	0.08	0.214	5.152	2.88	2.325	0.292	1.973	0.094	0.00361205365262	0.0009	0.000199681	0.0006	0	0.0006	0	0	0.0010	0	0.0003	0.0005045	78	154602	rs150375845	0.0005	0.0005	0.0005	0.0005	0.0006	0.0005	0.0005	0.0006	0.0006	0.0001	0.0006	3.833e-05	0	1.903e-05	0.0005	0.0006	0.0004	0.0001	0.0006	0.0006	0.0007	0.0005	0.0011	0.0005	0.0005	0.0009	0.0008	9.618e-05	0	0.0005	0	0	9.409e-05	0	0.0011	0	0.0004	0.096	0.35349	T	0.508	0.10893	T	0.0	0.02946	B	0.001	0.04355	B	0.976525	0.08122	N	0.986447	0.983701	0.24862	N	0.345	0.11182	N	3.55	0.04746	T	-0.5	0.35792	N	0.094	0.07398	-0.9600	0.39181	T	0.009	0.03140	T	10	0.014234483	0.00300	T	0.003612	0.08278	T	0.094	0.27141	.	.	0.171220215726	0.16700	0.11962204955242348	0.11889	0.27121202922	0.29639	0.518047273159	0.41351	T	0.13382	0.46471	T	-0.636071	0.00088	T	-0.742796	0.03774	T	0.00411044345771147	0.00044	T	0.648035	0.25918	T	.	.	.	.	.	.	.	.	-3.607	0.17958	T	.	.	0.293	0.52401	B	.;.	.;.	2.409634	0.30968	18.60	0.73786624711017623	0.10455	0.39246	0.26170	N	AEFDBCI	0.324301	0.42623	N	-0.594292897421854	0.19117	0.9980225	-0.504799793076721	0.22022	1.194129	0.999997893865248	0.74766	0.582742	0.33608	0	0.541168	0.11318	0	0.606884	0.38211	0	0.56751	0.32155	0	.	.	5.02	2.88	0.32617	0.775000	0.26351	6.234000	0.55243	0.676000	0.76740	0.080000	0.22340	1.000000	0.68203	0.933000	0.47100	0.2599:0.0:0.4456:0.2945	1.973	0.03202	748	0.52143	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1605.98	34	chr9	107488053	.	G	T	1605.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.730e-01;DP=843;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.962;SOR=0.643	GT:AD:DP:GQ:PL	0/1:48,67:115:99:1620,0,1081	20	0	1	0
chr9	108855134	108855134	G	A	exonic	ACTL7B	.	nonsynonymous SNV	ACTL7B:NM_006686:exon1:c.C797T:p.P266L,	.	.	295	1221	6	0	0	6	0.00245098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.005	B	0.011	B	0.002	N	0.992	N	1.29	L	3.24	T	-1.016	T	0.018	T	0.283	-1.108	0.136	3.37	1.197	4.404	5.378	0.099	0.00752112602978	0.0008	0.000399361	0.0014	0.0003	0.0023	0	0	0.0019	0.0012	0.0001	0.0013001	201	154602	rs115068245	0.0014	0.0014	0.0014	0.0014	0.0028	0.0013	0.0013	0.0017	0.0014	0.0002	0.0012	0.0103	0	3.823e-05	0.0028	0.0014	0.0017	0.0002	0.0011	0.0011	0.0010	0.0012	0.0017	0.0009	0.0009	0.0014	0.0013	0.0002	0	0.0005	0.0081	0	9.416e-05	0.0034	0.0017	0.0014	0	1.0	0.00964	T	0.544	0.09621	T	0.005	0.12996	B	0.011	0.15521	B	0.001988	0.37503	N	0.000000	0.992447	0.23881	N	1.195	0.30194	L	3.24	0.06845	T	0.66	0.02297	N	0.136	0.13341	-1.0165	0.24852	T	0.018	0.07470	T	10	0.0058436394	0.00130	T	0.007521	0.19952	T	0.099	0.28413	.	.	0.462982567029	0.45924	0.8605460909224839	0.86018	1.24303543032	0.81606	0.410971820354	0.26592	T	0.353538	0.72081	T	-0.535157	0.00358	T	-0.571572	0.15306	T	0.0131929458371452	0.00234	T	0.707729	0.31835	T	0.04835459	0.08413	0.058558825	0.10839	0.04835459	0.08413	0.058558825	0.10839	-3.266	0.13302	T	.	.	0.120	0.24934	B	.	.	2.500909	0.32279	19.00	0.77532047738309784	0.11915	0.45036	0.27449	N	AEFDBI	0.044702	0.07225	N	-0.548765397085854	0.20522	1.08247	-0.496933823152631	0.22239	1.206904	0.99988958161483	0.44867	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	5.26	3.37	0.37692	4.440000	0.59717	7.383000	0.58465	0.672000	0.70159	0.975000	0.34726	1.000000	0.68203	0.005000	0.06747	0.1664:0.0:0.6688:0.1647	5.378	0.15475	915	0.20917	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1611.98	34	chr9	108855134	.	G	A	1611.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.41;DP=902;ExcessHet=0.0000;FS=0.628;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=-2.090e-01;SOR=0.629	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1355	20	0	1	0
chr9	108855247	108855247	G	C	exonic	ACTL7B	.	nonsynonymous SNV	ACTL7B:NM_006686:exon1:c.C684G:p.D228E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.013	B	0.028	B	0.426	N	0.662	D	2.515	M	2.95	T	-1.088	T	0.039	T	0.145	2.063	12.86	1.67	0.165	1.841	8.835	0.206	0.0070476590342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.01	0.65728	D	0.013	0.16609	B	0.028	0.21332	B	0.426163	0.12808	N	0.634333	0.66236	0.33064	D	2.59	0.75718	M	2.95	0.09635	T	-2.93	0.61284	D	0.157	0.16308	-1.0879	0.05890	T	0.039	0.16935	T	10	0.65959346	0.70075	D	0.007048	0.18676	T	0.206	0.49396	0.888	0.97226	0.467585353272	0.46384	0.6039263202283854	0.60323	0.380374659178	0.39407	0.487231433392	0.37055	T	0.73958	0.92776	D	-0.212165	0.19075	T	-0.542537	0.18048	T	0.889055371284485	0.53972	D	0.720928	0.33404	T	0.46728507	0.65123	0.5861266	0.75997	0.46728507	0.65124	0.5861266	0.75998	-5.941	0.45783	T	.	.	0.280	0.51288	B	.	.	2.860155	0.37787	20.6	0.98765920040145261	0.45893	0.91218	0.53092	D	AEFDBI	0.516769	0.54316	D	-0.219700959119365	0.32325	1.821864	-0.186219459555186	0.32042	1.819106	0.999276659442134	0.38974	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	4.63	1.67	0.23149	1.566000	0.36005	4.887000	0.45725	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.821000	0.38685	0.0:0.3053:0.5372:0.1575	8.835	0.34267	915	0.20917	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2055.98	34	chr9	108855247	.	G	C	2055.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.62;DP=953;ExcessHet=0.0000;FS=3.454;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=-1.190e-01;SOR=0.783	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1355	20	0	1	0
chr9	108901650	108901650	C	T	exonic	ELP1	.	nonsynonymous SNV	ELP1:NM_001330749:exon15:c.G839A:p.R280H	.	YES	0	1520	2	0	0	2	0.000657462	.	.	191902	not_specified|Familial_dysautonomia|not_provided	MedGen:CN169374|MONDO:MONDO:0009131,MedGen:C0013364,OMIM:223900,Orphanet:1764|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.36	T	0.355	B	0.11	B	0.000	D	0.594	D	1.175	L	1.67	T	-1.011	T	0.050	T	0.155	2.806	15.34	4.09	0.825	4.516	7.709	0.076	0.00958433338634	0.0023	0.00119808	0.0019	0.0005	0.0013	0	0.0018	0.0028	0.0011	0.0007	0.0019146	296	154602	rs148378319	0.0027	0.0027	0.0027	0.0028	0.0031	0.0027	0.0026	0.0030	0.0030	0.0006	0.0018	0.0048	0	0.0015	0.0005	0.0031	0.0025	0.0008	0.0020	0.0020	0.0021	0.0019	0.0031	0.0018	0.0018	0.0027	0.0025	0.0006	0	0.0031	0.0026	0	0.0012	0.0034	0.0030	0.0024	0.0010	0.15	0.25355	T	0.388	0.30045	T	0.355	0.33731	B	0.11	0.31460	B	0.000001	0.62929	D	0.100213	0.594498	0.32484	D	1.61	0.41143	L	1.67	0.27331	T	-1.52	0.36980	N	0.283	0.32037	-1.0106	0.26729	T	0.050	0.21261	T	10	0.008384824	0.00190	T	0.009584	0.25062	T	0.076	0.22200	.	.	0.570372710236	0.56703	0.4569019088939758	0.45608	0.161409636425	0.18220	0.384141176939	0.22841	T	0.076169	0.35354	T	-0.513158	0.00482	T	-0.507558	0.21566	T	0.0280518462187967	0.01696	T	0.89971	0.64861	D	0.09341193	0.21940	0.06678121	0.13727	0.09341193	0.21939	0.06678121	0.13727	-7.735	0.59251	D	0.2812704806188515	0.37661	0.128	0.28319	B	.;.	.;.	3.570902	0.50292	22.9	0.99532026903583581	0.69963	0.88818	0.48931	D	AEFGBI	0.229714	0.35319	N	-0.0378548052419963	0.40147	2.379276	0.10093688058396	0.44596	2.738356	0.991422493709861	0.32484	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.94	4.09	0.47038	4.832000	0.62449	3.992000	0.40997	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1616:0.7563:0.0:0.0822	7.709	0.27832	921	0.19240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1191.98	35	chr9	108901650	.	C	T	1191.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.51;DP=789;ExcessHet=0.0000;FS=2.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=-2.830e-01;SOR=0.958	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1184	20	0	1	0
chr9	109091095	109091095	G	T	exonic	TMEM245	.	nonsynonymous SNV	TMEM245:NM_032012:exon5:c.C977A:p.P326H,	.	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.547	P	0.323	B	0.935	N	0.971	N	0	N	1.95	T	-1.009	T	0.036	T	0.29	3.865	19.64	4.76	1.358	3.769	9.020	0.065	0.00483384919212	0.0006	0.000399361	0.0008	0.0001	0.0010	0	0.0002	0.0010	0	0.0014	0.0008473	131	154602	rs199515741	0.0011	0.0011	0.0011	0.0011	0.0017	0.0010	0.0010	0.0015	0.0014	0.0002	0.0008	3.827e-05	0	7.489e-05	0.0007	0.0012	0.0008	0.0017	0.0007	0.0007	0.0008	0.0006	0.0017	0.0006	0.0006	0.0010	0.0009	0.0003	0	0.0005	0	0	0	0	0.0012	0	0.0017	0.035	0.43708	D	0.014	0.62352	D	0.412	0.35138	B	0.125	0.32635	B	0.934907	0.07558	N	1.028860	0.970886	0.25681	N	0.69	0.16971	N	1.95	0.22474	T	-1.36	0.33798	N	0.143	0.14338	-1.0087	0.27323	T	0.036	0.15726	T	10	0.017880827	0.00385	T	0.004834	0.12098	T	0.065	0.18881	.	.	0.212008924253	0.20833	0.337183902773412	0.33631	0.419929303687	0.42531	0.310352265835	0.11960	T	0.072942	0.34577	T	-0.483826	0.00703	T	-0.474235	0.25060	T	0.0413853751210949	0.03942	T	0.663034	0.27207	T	0.060086157	0.12289	0.0835302	0.19148	0.060086157	0.12288	0.0835302	0.19148	-7.265	0.55946	T	.	.	0.084	0.09627	B	.	.	3.652974	0.51852	23.2	0.99417159398226784	0.63597	0.98142	0.79959	D	AEFBI	0.252740	0.37236	N	-0.0695850108684635	0.38731	2.273054	0.0699153487077134	0.43045	2.614438	0.999870470223996	0.44625	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.68	4.76	0.60189	4.822000	0.62377	8.370000	0.77046	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.733000	0.35199	0.0778:0.1553:0.7668:0.0	9.020	0.35357	772	0.48957	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1456.98	33	chr9	109091095	.	G	T	1456.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.760e+00;DP=798;ExcessHet=0.0000;FS=5.752;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.34;ReadPosRankSum=-2.158e+00;SOR=1.306	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1147	20	0	1	0
chr9	109176554	109176554	G	A	exonic	EPB41L4B	.	nonsynonymous SNV	EPB41L4B:NM_001385623:exon24:c.C2522T:p.A841V	.	.	436	1075	11	0	0	11	0.00509024	.	.	2333522	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.22	T	0.1	B	0.024	B	.	.	1.000	D	0	N	-1.86	D	-0.599	T	0.309	T	0.118	3.035	16.13	4.42	2.507	3.950	10.344	0.205	0.0297105243092	0.0007	0.000599042	0.0008	0	0.0010	0	0	0.0009	0.0034	0.0014	0.0007374	114	154602	rs201310807	0.0007	0.0007	0.0007	0.0007	0.0023	0.0007	0.0007	0.0013	0.0012	9.049e-05	0.0010	0.0004	0	3.748e-05	0.0023	0.0007	0.0008	0.0015	0.0008	0.0008	0.0009	0.0007	0.0024	0.0007	0.0006	0.0017	0.0015	0.0003	0	0.0024	0.0003	0.0002	0	0.0034	0.0010	0.0005	0.0008	0.137	0.25979	T	0.25	0.23707	T	0.1	0.25713	B	0.024	0.20255	B	.	.	.	.	0.999301	0.21385	N	0	0.06538	N	-1.86	0.84341	D	-0.39	0.13611	N	0.174	0.18649	-0.5992	0.64850	T	0.309	0.67994	T	9	0.0120204985	0.00260	T	0.029711	0.52165	D	0.205	0.49236	.	.	0.398073934661	0.39420	0.2486468099550147	0.24778	0.250243036084	0.27601	0.371308147907	0.21020	T	0.010314	0.09328	T	-0.374625	0.03366	T	-0.346277	0.39631	T	0.0411264412659923	0.03894	T	0.790621	0.43132	T	0.082045645	0.18882	0.23190922	0.48336	0.082045645	0.18881	0.23190922	0.48335	-4.069	0.24831	T	.	.	0.106	0.19639	B	.	.	3.295434	0.45215	22.1	0.9947084766303228	0.66312	0.81298	0.40731	D	AEFDI	0.551762	0.56370	D	-0.127314684256125	0.36205	2.089671	0.0873911562339272	0.43911	2.683313	0.999999647387237	0.74766	0.446893	0.09132	0	0.547309	0.14657	0	0.573078	0.19857	0	0.530356	0.10902	0	.	.	5.39	4.42	0.52775	4.002000	0.56766	8.127000	0.76643	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:0.6619:0.3381	10.344	0.43075	874	0.30607	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	870.98	39	chr9	109176554	.	G	A	870.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.400e-02;DP=785;ExcessHet=0.0000;FS=4.170;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=-2.300e-02;SOR=1.153	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1257	20	0	1	0
chr9	109433112	109433112	G	T	exonic	PTPN3	.	nonsynonymous SNV	PTPN3:NM_001145369:exon5:c.C332A:p.A111D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	1.0	D	0.000	D	1.000	D	1.845	L	-2.22	D	0.628	D	0.754	D	0.966	2.884	15.61	5.18	1.576	7.866	17.191	0.756	0.161024333736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.47320	D	0.427	0.44905	T	0.996	0.68779	D	0.958	0.70027	D	0.000000	0.84330	D	0.049492	0.99998	0.54805	D	2.175	0.60977	M	-2.22	0.87038	D	-2.76	0.58896	D	0.957	0.96758	0.628	0.92262	D	0.754	0.91623	D	10	0.8903005	0.88370	D	0.161024	0.84090	D	0.756	0.91668	0.599	0.72984	0.937419472767	0.93676	0.8695157578229185	0.86916	1.05196235552	0.76184	0.645616173744	0.59362	T	0.659116	0.96537	D	0.385944	0.89083	D	0.316605	0.88946	D	0.9822638630867	0.74389	D	0.912409	0.69637	D	0.5533887	0.70144	0.59726745	0.76614	0.5533887	0.70145	0.59726745	0.76615	-13.065	0.89629	D	.	.	0.995	0.95677	P	.;.;.;.	.;.;.;.	5.190051	0.87047	29.1	0.99341610750760168	0.60210	0.97530	0.75350	D	AEFBI	0.842770	0.75985	D	0.425711770043033	0.62840	4.506744	0.379325859018326	0.60291	4.215148	0.999998243382134	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	6.08	5.18	0.71140	7.621000	0.82276	11.795000	0.96485	-0.148000	0.12190	1.000000	0.71638	1.000000	0.68203	0.060000	0.15972	0.0:0.1262:0.8738:0.0	17.191	0.86760	852	0.35056	.;.;FERM, C-terminal PH-like domain|FERM domain|FERM, C-terminal PH-like domain;FERM, C-terminal PH-like domain|FERM domain|FERM, C-terminal PH-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	49.98	35	chr9	109433112	.	G	T	49.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.658e+00;DP=810;ExcessHet=0.0000;FS=78.636;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.45;ReadPosRankSum=-3.670e-01;SOR=6.357	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1251	20	0	1	0
chr9	109943006	109943006	G	T	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001037293:exon7:c.G721T:p.A241S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.989	D	0.869	P	.	.	1.000	D	1.655	L	2.35	T	-1.139	T	0.081	T	0.326	3.277	17.00	6.17	2.941	5.211	19.868	0.192	0.0118219655845	.	.	.	.	.	.	.	.	.	.	.	.	.	rs987764582	5.473e-06	5.472e-06	4.084e-06	6.875e-06	1.159e-05	2.35e-06	1.7e-06	.	.	0	0	0	0	0	0	0	0.0001	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.522	0.18246	T	0.704	0.07766	T	0.989	0.62824	D	0.869	0.61749	P	.	.	.	.	1	0.81001	D	1.78	0.46185	L	2.35	0.16217	T	-0.35	0.13226	N	0.095	0.23125	-1.1391	0.01392	T	0.081	0.32002	T	9	0.25007588	0.42328	T	0.011822	0.29821	T	0.192	0.47115	.	.	0.604342690544	0.60117	0.13835584810251533	0.13759	0.338721449428	0.35836	.	.	.	0.049039	0.28191	T	-0.156628	0.27279	T	-0.462762	0.26298	T	0.433633277350203	0.30195	T	0.831417	0.49863	T	0.12647909	0.29622	0.13265502	0.31829	0.12647909	0.29622	0.13265502	0.31828	-5.306	0.40003	T	.	.	0.143	0.39949	B	.;.;.;.	.;.;.;.	3.515947	0.49260	22.7	0.99385093095610433	0.62068	0.98795	0.86952	D	AEFBI	0.763295	0.70044	D	0.580783268938007	0.71975	5.733572	0.638148336940381	0.77732	6.73613	0.99996382001245	0.48965	0.638212	0.43195	0	0.547309	0.14657	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.904000	0.62975	11.905000	0.99459	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.868	0.96822	820	0.40914	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2668.98	34	chr9	109943006	.	G	T	2668.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.607e+00;DP=875;ExcessHet=0.0000;FS=9.276;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.61;ReadPosRankSum=1.12;SOR=1.179	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1306	20	0	1	0
chr9	109943033	109943033	A	G	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001037293:exon7:c.A748G:p.R250G	.	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.08	B	0.062	B	.	.	1.000	D	1.76	L	2.34	T	-1.106	T	0.041	T	0.455	1.241	10.04	3.69	1.113	2.189	9.046	0.066	0.00868137072056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	3.42e-06	1.361e-06	5.5e-06	4.472e-05	1e-06	7.3e-07	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	0	1.656e-05	2.319e-05	6.568e-06	6.566e-06	1.284e-05	0	6.542e-05	0	0	.	.	0	0	6.542e-05	0	0	0	0	0	0	0	0.156	0.30235	T	0.369	0.16570	T	0.08	0.24543	B	0.062	0.26930	B	.	.	.	.	1	0.81001	D	0.895	0.22405	L	2.34	0.16351	T	-1.25	0.35991	N	0.092	0.20395	-1.1062	0.03417	T	0.041	0.17785	T	9	0.15186334	0.28696	T	0.008681	0.22927	T	0.066	0.19193	.	.	0.210429274316	0.20668	0.21157411103910084	0.21073	0.306107796148	0.32911	.	.	.	0.044197	0.26739	T	-0.138692	0.30098	T	-0.436998	0.29145	T	0.234590073240593	0.22169	T	0.912409	0.68863	D	0.11709357	0.27609	0.14615516	0.34636	0.11709357	0.27608	0.14615516	0.34635	-1.712	0.02808	T	.	.	0.079	0.10256	B	.;.;.;.	.;.;.;.	2.551201	0.33023	19.22	0.98229605421114785	0.39378	0.97658	0.76213	D	AEFBI	0.596739	0.59079	D	-0.0963277030263976	0.37552	2.186452	0.0474944596366212	0.41952	2.529065	0.974919813655763	0.29586	0.638212	0.43195	0	0.547309	0.14657	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	6.16	3.69	0.41483	2.481000	0.44874	5.264000	0.48131	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.7462:0.1299:0.0:0.1239	9.046	0.35507	820	0.40914	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1830.98	173	chr9	109943033	.	A	G	1830.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=881;ExcessHet=0.0000;FS=0.568;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.58;ReadPosRankSum=0.160;SOR=0.614	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1306	20	0	1	0
chr9	110048727	110048727	G	T	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon1:c.G28T:p.A10S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.325	B	0.106	B	.	.	1.000	N	.	.	1.46	T	-1.021	T	0.086	T	0.095	1.410	10.65	1.55	0.227	0.324	9.779	0.028	0.0312468597258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.177	0.29740	T	0.325	0.33132	B	0.106	0.31143	B	.	.	.	.	1	0.08975	N	.	.	.	1.46	0.46028	T	-0.04	0.07590	N	0.149	0.19190	-1.0211	0.23357	T	0.086	0.33298	T	8	0.08898917	0.15375	T	0.031247	0.53376	D	0.028	0.06331	0.244	0.17830	0.359557344763	0.35564	0.014612747631774546	0.01418	.	.	.	.	.	.	.	.	-0.256374	0.13327	T	-0.60604	0.12308	T	0.137724639493122	0.16077	T	0.416558	0.10945	T	.	.	.	.	.	.	.	.	-4.131	0.25745	T	.	.	0.134	0.28976	B	.;.	.;.	1.109507	0.14948	11.46	0.82623069034029506	0.14288	0.04271	0.09807	N	ALL	0.037682	0.05218	N	-0.722100060433466	0.15401	0.7758523	-0.830861522409075	0.13749	0.714898	0.999999803708059	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.372554	0.06265	0	.	.	3.59	1.55	0.22356	0.490000	0.22112	1.135000	0.24358	0.675000	0.71128	0.001000	0.13787	0.002000	0.18203	0.010000	0.09038	0.0:0.4213:0.5787:0.0	9.779	0.39804	716	0.55970	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	817.98	28	chr9	110048727	.	G	T	817.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.370e-01;DP=500;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.72;ReadPosRankSum=1.10;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:24,0:24:72:.:.:0,72,671	20	0	1	0
chr9	110137052	110137052	G	C	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1082C:p.R361T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.993	D	0.977	D	0.002	N	0.528	D	1.87	L	0.88	T	-0.548	T	0.199	T	0.636	0.801	8.213	4.73	1.367	2.869	8.596	0.118	0.0618637391386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.424e-06	0.0004	4.089e-06	2.753e-06	3.602e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.024	0.57104	D	0.949	0.65571	P	0.496	0.73820	P	0.002376	0.36688	N	0.265487	0.528475	0.31955	D	2.125	0.59049	M	0.88	0.46028	T	-1.48	0.56144	N	0.354	0.44857	-0.5485	0.66844	T	0.199	0.55442	T	10	0.25693607	0.43103	T	0.061864	0.68469	D	0.118	0.32913	0.194	0.10571	0.52468985305	0.52114	0.3132723605175298	0.31240	0.508839714498	0.49031	0.421055316925	0.27981	T	0.068456	0.33461	T	-0.00465218	0.51011	T	-0.244459	0.50362	T	0.82229095697403	0.47942	D	0.916508	0.71628	D	0.14253841	0.32799	0.105709225	0.25417	0.14253841	0.32798	0.105709225	0.25416	-6.736	0.54231	T	.	.	0.488	0.66996	A	.;.;.;.;.;.	.;.;.;.;.;.	3.479942	0.48587	22.6	0.93161729188529674	0.22814	0.93481	0.58334	D	AEFBCIJ	0.371545	0.45752	N	0.194427995474043	0.50931	3.278602	0.1677655242984	0.48093	3.029822	0.999992215884336	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.63	4.73	0.59485	3.590000	0.53726	5.886000	0.50702	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.1723:0.0:0.8277:0.0	8.596	0.32880	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2857	1628.87	70	chr9	110137052	.	G	C	1628.87	.	AC=8;AF=0.286;AN=28;BaseQRankSum=-2.866e+00;DP=1349;ExcessHet=3.5521;FS=192.403;InbreedingCoeff=-0.3771;MLEAC=10;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=2.60;ReadPosRankSum=0.889;SOR=10.272	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:61,0:61:0:.:.:0,0,815	6	0	8	7
chr9	110137054	110137054	G	C	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1084C:p.A362P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.999	D	0.996	D	0.000	D	0.802	D	1.445	L	0.85	T	-0.701	T	0.211	T	0.556	0.977	8.990	4.46	2.691	3.205	11.752	0.106	0.0240367102959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.656e-05	0.0033	4.12e-05	3.187e-05	0.0002	2.851e-05	2.586e-05	3.493e-05	3.152e-05	3.008e-05	0	3.836e-05	0	0	0.0002	4.541e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	0.27904	T	0.206	0.31833	T	0.98	0.77913	D	0.731	0.84481	P	0.000361	0.45440	D	0.192211	0.801683	0.34520	D	1.6	0.40776	L	0.85	0.47130	T	-0.13	0.17417	N	0.259	0.43029	-0.7007	0.60404	T	0.211	0.57174	T	10	0.23016733	0.39961	T	0.024037	0.47022	T	0.106	0.30130	0.217	0.13788	0.713993983955	0.71148	0.23740471580261735	0.29225	0.516168458663	0.49506	0.390263020992	0.23706	T	0.030762	0.21729	T	-0.0678756	0.41665	T	-0.335275	0.40877	T	0.783624947071075	0.45278	D	0.90061	0.65471	D	0.24448925	0.47398	0.26249248	0.52042	0.24448925	0.47398	0.26249248	0.52041	-8.416	0.66933	D	.	.	0.663	0.75561	P	.;.;.;.;.;.	.;.;.;.;.;.	4.039548	0.59798	24.1	0.98775053701776594	0.46033	0.67690	0.33524	D	AEFBCIJ	0.269496	0.38576	N	0.281387811107843	0.55205	3.684758	0.278666808938951	0.54296	3.594986	0.999998236571977	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.42	4.46	0.53567	3.170000	0.50516	7.765000	0.68366	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.3075:0.6925:0.0	11.752	0.51121	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2059	1505.95	70	chr9	110137054	.	G	C,A	1505.95	.	AC=2,5;AF=0.059,0.147;AN=34;BaseQRankSum=-3.967e+00;DP=1369;ExcessHet=2.5830;FS=184.238;InbreedingCoeff=-0.2728;MLEAC=2,6;MLEAF=0.059,0.176;MQ=60.00;MQRankSum=0.00;QD=2.67;ReadPosRankSum=1.29;SOR=10.048	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:61,0,0:61:0:.:.:0,0,815,0,815,815	10	0	2	4
chr9	110137054	110137054	G	A	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1084A:p.A362T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.997	D	0.989	D	0.000	D	0.555	D	1.79	L	0.82	T	-0.607	T	0.231	T	0.281	1.466	10.85	4.46	2.691	3.205	11.752	0.058	0.0262409829576	.	.	1.678e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs777202417	6.173e-06	6.157e-06	8.191e-06	4.136e-06	0.0002	2.91e-06	2.1e-06	0.0001	7.819e-05	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.084	0.42976	T	0.873	0.70673	P	0.461	0.78396	P	0.000361	0.45440	D	0.192211	0.554502	0.32161	D	1.95	0.52479	M	0.82	0.48142	T	-0.38	0.20145	N	0.196	0.26596	-0.6067	0.64540	T	0.231	0.59732	T	10	0.15551329	0.29309	T	0.026241	0.49161	D	0.058	0.16647	0.201	0.11522	0.606491963429	0.60334	0.1585652680794885	0.19118	0.413830099629	0.42075	0.353128492832	0.18382	T	0.05449	0.29740	T	-0.32145	0.06780	T	-0.414803	0.31673	T	0.136570181284112	0.15976	T	0.914109	0.69400	D	0.07271283	0.16195	0.093768194	0.22163	0.07271283	0.16195	0.093768194	0.22162	-5.913	0.46163	T	.	.	0.123	0.36653	B	.;.;.;.;.;.	.;.;.;.;.;.	3.350669	0.46210	22.3	0.99576051814353395	0.72682	0.77969	0.38401	D	AEFBCIJ	0.274752	0.38987	N	0.18937847889013	0.50690	3.256583	0.211920241110118	0.50507	3.242088	0.999998236571977	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.42	4.46	0.53567	3.170000	0.50516	7.765000	0.68366	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.3075:0.6925:0.0	11.752	0.51121	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2059	1505.95	70	chr9	110137054	.	G	C,A	1505.95	.	AC=2,5;AF=0.059,0.147;AN=34;BaseQRankSum=-3.967e+00;DP=1369;ExcessHet=2.5830;FS=184.238;InbreedingCoeff=-0.2728;MLEAC=2,6;MLEAF=0.059,0.176;MQ=60.00;MQRankSum=0.00;QD=2.67;ReadPosRankSum=1.29;SOR=10.048	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:61,0,0:61:0:.:.:0,0,815,0,815,815	10	0	2	4
chr9	110385901	110385901	C	G	exonic	SVEP1	.	nonsynonymous SNV	SVEP1:NM_153366:exon43:c.G10234C:p.E3412Q,	.	.	451	1049	21	1	0	23	0.0108439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	1.0	D	0.996	D	0.000	D	1.000	D	1.065	L	1.82	T	-1.106	T	0.072	T	0.302	4.059	20.9	4.18	1.284	2.775	13.976	0.136	.	0.0039	0.00479233	0.0054	0.0012	0.0025	0	0.0053	0.0061	0.0034	0.0105	0.0051746	800	154602	rs145193955	0.0061	0.0061	0.0060	0.0063	0.0111	0.0060	0.0060	0.0105	0.0102	0.0008	0.0025	0.0015	0	0.0050	0.0059	0.0065	0.0058	0.0111	0.0043	0.0043	0.0046	0.0040	0.0110	0.0040	0.0039	0.0086	0.0078	0.0008	0	0.0031	0	0	0.0036	0.0068	0.0069	0.0043	0.0110	.	.	.	0.002	0.79402	D	1.0	0.90584	D	0.996	0.84481	D	0.000001	0.62929	D	0.095495	0.810376	0.34633	D	1.795	0.47270	L	.	.	.	.	.	.	0.436	0.47487	-1.1058	0.03457	T	0.072	0.29291	T	10	0.009075999	0.00205	T	.	.	.	0.136	0.36778	.	.	0.043077524339	0.03247	0.4898405157219356	0.48904	0.409573402614	0.41769	0.550909638405	0.45985	T	0.015123	0.12745	T	-0.395989	0.02459	T	-0.332192	0.41225	T	0.00490220077480139	0.00053	T	0.70483	0.31518	T	0.16026472	0.35956	0.11986449	0.28929	0.16026472	0.35956	0.11986449	0.28929	-3.781	0.20521	T	.	.	0.090	0.12702	B	.;.	.;.	3.147362	0.42591	21.6	0.9974708888691064	0.83927	0.94525	0.61448	D	AEFBI	0.642113	0.61920	D	0.353146153180253	0.58905	4.065826	0.352233675522645	0.58641	4.035978	0.978342231168476	0.29912	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.07	4.18	0.48473	3.062000	0.49664	3.276000	0.37195	0.593000	0.32247	1.000000	0.71638	0.998000	0.33993	0.995000	0.73285	0.0:0.9267:0.0:0.0733	13.976	0.63788	975	0.05339	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1019.98	34	chr9	110385901	.	C	G	1019.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=781;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.74;ReadPosRankSum=1.80;SOR=0.648	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr9	110406407	110406407	C	A	exonic	SVEP1	.	nonsynonymous SNV	SVEP1:NM_153366:exon38:c.G9193T:p.G3065C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	1.0	D	0.993	D	0.000	D	1.000	D	3.47	M	1.7	T	-0.525	T	0.252	T	0.483	2.393	13.96	5.71	2.697	5.758	19.863	0.337	0.0115628140936	.	.	8.286e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs768349767	4.789e-06	4.788e-06	5.445e-06	4.126e-06	5.396e-06	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.83351	D	1.0	0.90584	D	0.993	0.81110	D	0.000011	0.62929	D	0.149633	0.99044	0.41161	D	4.19	0.97772	H	.	.	.	.	.	.	0.355	0.42345	-0.5254	0.67714	T	0.252	0.62189	T	10	0.4072864	0.55981	T	0.011563	0.29307	T	0.337	0.65913	0.56	0.67958	0.110392049598	0.10638	0.6594878585333578	0.65885	0.501333492851	0.48519	0.470808386803	0.34791	T	0.12768	0.45486	T	0.0412874	0.57214	T	-0.17847	0.56665	T	0.99547004699707	0.87491	D	0.774123	0.40598	T	0.36089796	0.57904	0.26503465	0.52331	0.36089796	0.57905	0.26503465	0.52330	-8.375	0.63599	D	.	.	0.399	0.59522	A	.;.	.;.	4.234574	0.64158	24.7	0.994390988576899	0.64670	0.99187	0.92514	D	AEFDBI	0.887423	0.81966	D	0.784825778690251	0.85147	8.49034	0.684896538234898	0.81232	7.478771	0.479094416416694	0.20770	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.71	5.71	0.89031	2.280000	0.43103	5.897000	0.50837	0.547000	0.25779	0.998000	0.41325	1.000000	0.68203	0.642000	0.32476	0.0:1.0:0.0:0.0	19.863	0.96791	969	0.06854	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1892.98	93	chr9	110406407	.	C	A	1892.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.850e-01;DP=1400;ExcessHet=0.0000;FS=6.591;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=-7.390e-01;SOR=1.150	GT:AD:DP:GQ:PL	0/0:81,0:81:99:0,120,1800	20	0	1	0
chr9	110408819	110408819	G	T	exonic	SVEP1	.	nonsynonymous SNV	SVEP1:NM_153366:exon38:c.C6781A:p.P2261T,	.	.	.	.	.	.	.	.	.	.	.	2266109	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.52	T	0.89	P	0.343	B	0.000	D	1.000	D	3.3	M	0.72	T	-0.596	T	0.227	T	0.268	2.151	13.15	5.95	2.824	6.355	20.393	0.264	0.0109744997525	.	.	8.284e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs753766016	8.214e-06	8.209e-06	4.086e-06	1.238e-05	0.0001	4.38e-06	3.46e-06	7.997e-05	6.236e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.42086	T	0.89	0.48942	P	0.343	0.42509	B	0.000006	0.62929	D	0.115441	0.998683	0.45275	D	2.63	0.76995	M	.	.	.	.	.	.	0.202	0.22357	-0.5962	0.64971	T	0.227	0.59171	T	10	0.3055741	0.48074	T	0.010974	0.28104	T	0.264	0.57741	0.449	0.50957	0.043077524339	0.03247	0.3171779498306342	0.31630	0.412880554843	0.42014	0.474641591311	0.35320	T	0.026387	0.19537	T	-0.186025	0.22842	T	-0.302335	0.44477	T	0.676724910736084	0.39640	D	0.723828	0.33737	T	0.24021193	0.46921	0.27026746	0.52916	0.24021193	0.46921	0.27026746	0.52915	-9.385	0.70141	D	.	.	0.129	0.27583	B	.;.	.;.	2.644178	0.34410	19.62	0.99126531756263647	0.53142	0.97607	0.75865	D	AEFDBI	0.814195	0.73648	D	0.585326771073769	0.72257	5.777527	0.6022109598962	0.75100	6.251213	0.999995898346675	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.95	5.95	0.96415	6.476000	0.73497	11.802000	0.96681	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.806000	0.37994	0.0:0.0:1.0:0.0	20.393	0.98966	968	0.07033	Sushi/SCR/CCP domain;Sushi/SCR/CCP domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2460.98	93	chr9	110408819	.	G	T	2460.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.540e+00;DP=1494;ExcessHet=0.0000;FS=1.050;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=0.193;SOR=0.790	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr9	110435253	110435253	T	C	exonic	SVEP1	.	nonsynonymous SNV	SVEP1:NM_153366:exon29:c.A4876G:p.I1626V,	.	.	433	1077	12	0	0	12	0.00554017	.	.	2840705	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.54	T	0.008	B	0.004	B	0.001	D	1.000	D	1.845	L	-0.95	T	-0.744	T	0.288	T	0.142	-0.290	2.615	4.27	0.878	4.277	11.828	0.191	0.00882891341451	0.0003	0.000399361	0.0008	0.0001	0.0024	0	0	0.0004	0.0011	0.0027	0.0006727	104	154602	rs151157223	0.0004	0.0004	0.0003	0.0005	0.0071	0.0004	0.0004	0.0054	0.0048	0.0001	0.0015	0.0004	0	0	0.0071	0.0002	0.0006	0.0023	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0001	0.0005	0.0004	2.406e-05	0	0.0007	0	0	0	0.0034	0.0002	0.0005	0.0012	.	.	.	0.01	0.72224	D	0.008	0.14655	B	0.004	0.10090	B	0.000956	0.40932	D	0.272836	0.999262	0.21918	N	2.425	0.70256	M	.	.	.	.	.	.	0.394	0.43514	-0.7437	0.58262	T	0.288	0.65968	T	10	0.014389187	0.00303	T	0.008829	0.23294	T	0.191	0.46948	.	.	0.043077524339	0.03247	0.37065302493303626	0.36979	0.0895599370888	0.10117	0.381764382124	0.22507	T	0.007873	0.07247	T	-0.47024	0.00847	T	-0.45317	0.27346	T	0.0420534697939547	0.04064	T	0.581242	0.21054	T	0.04798732	0.08291	0.051949628	0.08465	0.04798732	0.08291	0.051949628	0.08464	-2.368	0.04940	T	.	.	0.071	0.04041	B	.;.	.;.	2.181266	0.27801	17.59	0.3837102778993291	0.02584	0.94314	0.60772	D	AEFBI	0.628681	0.61068	D	-0.218249766730362	0.32385	1.825823	-0.0767232625415517	0.36356	2.114654	0.10345070058072	0.16447	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.41	4.27	0.50009	4.267000	0.58676	1.270000	0.25285	0.649000	0.52879	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.1313:0.0:0.0:0.8687	11.828	0.51552	974	0.05496	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1535.98	33	chr9	110435253	.	T	C	1535.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.748e+00;DP=864;ExcessHet=0.0000;FS=5.925;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.66;ReadPosRankSum=-1.001e+00;SOR=0.375	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1291	20	0	1	0
chr9	110697338	110697338	T	C	exonic	MUSK	.	nonsynonymous SNV	MUSK:NM_001166280:exon5:c.T500C:p.I167T	Fetal akinesia deformation sequence, Autosomal recessive;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, Autosomal recessive	.	1	1491	28	2	0	32	0.0106171	.	.	310665	Fetal_akinesia_deformation_sequence_1|Congenital_myasthenic_syndrome_9|MUSK-related_disorder|not_provided	Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994|MONDO:MONDO:0014587,MedGen:C4225368,OMIM:616325,Orphanet:590|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.013	B	0.000	N	1.000	D	1.105	L	-0.32	T	-0.980	T	0.180	T	0.193	1.138	9.636	3.57	0.143	2.983	10.855	0.073	0.0105356802295	0.0006	0.000998403	0.0011	0	8.639e-05	0.0001	0	0.0004	0	0.0064	0.0009638	149	154602	rs202045225	0.0008	0.0008	0.0006	0.0010	0.0076	0.0008	0.0008	0.0069	0.0067	2.988e-05	0.0001	0.0034	5.042e-05	1.875e-05	0.0076	0.0004	0.0009	0.0074	0.0005	0.0005	0.0003	0.0006	0.0060	0.0004	0.0004	0.0043	0.0037	0	0	0.0002	0.0035	0	0	0	0.0004	0	0.0060	0.227	0.27544	T	0.408	0.39645	T	0.0	0.02946	B	0.013	0.16460	B	0.000338	0.45700	N	0.223986	0.979095	0.47691	D	1.52	0.38360	L	-0.32	0.68181	T	-0.51	0.19509	N	0.366	0.44857	-0.9802	0.34955	T	0.180	0.52736	T	10	0.008293927	0.00188	T	0.010536	0.27195	T	0.073	0.21317	.	.	0.642361509819	0.63941	0.5543889347204217	0.55365	0.210267244558	0.23511	0.463808655739	0.33832	T	0.085329	0.37478	T	-0.457993	0.01012	T	-0.426787	0.30301	T	0.0137720248757838	0.00259	T	0.758424	0.41060	T	0.08186974	0.18832	0.09594791	0.22777	0.10821594	0.25586	0.1335766	0.32027	-7.667	0.58778	D	0.1998646848778895	0.26509	0.444	0.71856	A	.;.;.;.;.	.;.;.;.;.	1.949993	0.24767	16.52	0.7974631330892249	0.12882	0.79331	0.39290	D	AEFGBI	0.188104	0.31539	N	-0.666228027466867	0.16988	0.870428	-0.485543765250945	0.22551	1.225413	0.446587483137447	0.20502	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.88	3.57	0.40014	3.236000	0.51035	1.902000	0.29588	-0.912000	0.02253	1.000000	0.71638	1.000000	0.68203	0.904000	0.43992	0.0:0.1478:0.0:0.8522	10.855	0.46000	963	0.08280	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1669.98	34	chr9	110697338	.	T	C	1669.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.285e+00;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-1.669e+00;SOR=0.666	GT:AD:DP:GQ:PL	0/1:65,71:136:99:1684,0,1651	20	0	1	0
chr9	110800309	110800309	T	C	exonic	MUSK	.	nonsynonymous SNV	MUSK:NM_001369398:exon9:c.T671C:p.V224A	Fetal akinesia deformation sequence, Autosomal recessive;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, Autosomal recessive	.	0	1504	17	1	0	19	0.00627684	.	.	253279	not_specified|not_provided|Congenital_myasthenic_syndrome_9|Fetal_akinesia_deformation_sequence_1	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014587,MedGen:C4225368,OMIM:616325,Orphanet:590|Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.373	B	0.396	B	0.000	D	1.000	D	1.335	L	-1.7	D	-0.068	T	0.423	T	0.864	3.586	18.26	5.07	2.027	7.997	14.301	0.805	0.0970055682466	0.0025	0.00179712	0.0028	0.0003	0.0010	0.0001	0.0021	0.0037	0.0024	0.0042	0.0026908	416	154602	rs41279055	0.0037	0.0037	0.0037	0.0036	0.0041	0.0036	0.0036	0.0040	0.0040	0.0003	0.0018	0.0016	0	0.0026	0.0040	0.0041	0.0032	0.0035	0.0027	0.0027	0.0024	0.0029	0.0046	0.0024	0.0024	0.0036	0.0035	0.0004	0	0.0032	0.0020	0	0.0027	0.0034	0.0040	0.0033	0.0046	0.002	0.72154	D	0.003	0.79402	D	0.373	0.34173	B	0.396	0.44364	B	0.000006	0.62929	D	0.063149	1	0.81001	D	1.435	0.35949	L	-1.7	0.83072	D	-3.71	0.70674	D	0.871	0.93018	-0.0676	0.80832	T	0.423	0.76763	T	10	0.057576776	0.06634	T	0.097006	0.76700	D	0.805	0.93660	.	.	0.849818709167	0.84837	0.6924260660013182	0.69182	0.756905098849	0.64057	0.796596288681	0.81446	T	0.481056	0.80978	T	0.00689684	0.52601	T	0.236986	0.85005	D	0.0360591295762086	0.02992	T	0.769823	0.39947	T	0.57534623	0.71354	0.55415136	0.74215	0.58510226	0.71887	0.64054227	0.79001	-10.283	0.75589	D	0.4229103633456847	0.51139	0.683	0.73000	P	.;.;.;.	.;.;.;.	3.738890	0.53529	23.4	0.99784028026709548	0.87043	0.98923	0.88681	D	AEFGBI	0.929285	0.91480	D	0.216838402520189	0.52015	3.378498	0.2925395247629	0.55102	3.673715	0.999999994025041	0.74766	0.500041	0.20204	0	0.624306	0.53593	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.07	5.07	0.68106	7.951000	0.87297	7.911000	0.74030	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.048000	0.15020	0.0:0.0:0.0:1.0	14.301	0.65900	935	0.14827	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1158.98	38	chr9	110800309	.	T	C	1158.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.320e-01;DP=854;ExcessHet=0.0000;FS=3.065;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.99;ReadPosRankSum=1.36;SOR=0.477	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1282	20	0	1	0
chr9	110800836	110800836	A	G	exonic	MUSK	.	nonsynonymous SNV	MUSK:NM_001369398:exon9:c.A1198G:p.I400V	Fetal akinesia deformation sequence, Autosomal recessive;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.005	B	0.027	B	0.000	D	1.000	D	-0.075	N	-1.59	D	-0.726	T	0.255	T	0.146	0.648	7.477	5.62	2.266	3.501	11.234	0.242	0.0168074123812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.844	0.02782	T	1.0	0.01155	T	0.005	0.12996	B	0.027	0.21085	B	0.000005	0.62929	D	0.106321	0.997725	0.44134	D	-0.205	0.04094	N	-1.59	0.82076	D	-0.27	0.11366	N	0.084	0.14905	-0.7256	0.59184	T	0.255	0.62530	T	10	0.15336004	0.28950	T	0.016807	0.38239	T	0.242	0.54781	0.6	0.73105	0.621830897814	0.61876	0.3574911797212814	0.35663	0.137857802033	0.15542	0.41606593132	0.27295	T	0.206198	0.56548	T	-0.0925583	0.37654	T	-0.37073	0.36803	T	0.811839282512665	0.47178	D	0.837116	0.50934	T	0.06685322	0.14423	0.07862274	0.17625	0.06685322	0.14423	0.07862274	0.17625	-1.747	0.02356	T	0.2148973573422226	0.28882	0.273	0.57938	B	.;.;.;.	.;.;.;.	1.955412	0.24836	16.54	0.92816363878119112	0.22343	0.84264	0.43346	D	AEFGBI	0.303897	0.41174	N	-0.309485064409963	0.28787	1.590741	-0.0472363839971343	0.37611	2.204454	0.999933806994181	0.46732	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.62	5.62	0.85714	3.490000	0.53007	5.429000	0.48587	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.9262:0.0:0.0738:0.0	11.234	0.48161	935	0.14827	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2212.98	38	chr9	110800836	.	A	G	2212.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.030e-01;DP=915;ExcessHet=0.0000;FS=3.276;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=-6.240e-01;SOR=0.961	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1282	20	0	1	0
chr9	111713160	111713160	T	C	exonic	SHOC1	.	nonsynonymous SNV	SHOC1:NM_001378212:exon13:c.A2014G:p.I672V	.	.	838	646	27	11	0	49	0.0365399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.802	P	0.337	B	0.017	N	1.000	N	0.975	L	3.6	T	-0.991	T	0.012	T	0.158	1.669	11.54	1.57	0.352	0.722	7.601	0.051	.	0.0012	0.00399361	0.0067	0.0001	0.0012	0	0.0002	0.0030	0.0056	0.0327	0.0043919	679	154602	rs77603777	0.0026	0.0026	0.0017	0.0035	0.0273	0.0025	0.0025	0.0264	0.0260	0.0001	0.0008	0.0049	5.142e-05	9.446e-05	0.0120	0.0009	0.0028	0.0273	0.0018	0.0018	0.0012	0.0023	0.0222	0.0016	0.0015	0.0188	0.0175	0.0003	0	0.0017	0.0043	0	0	0.0170	0.0015	0.0014	0.0222	0.112	0.35537	T	0.159	0.31527	T	.	.	.	.	.	.	0.016668	0.27917	N	0.310911	0.960653	0.26138	N	.	.	.	3.58	0.04594	T	0.01	0.06868	N	0.186	0.25006	-0.9908	0.32398	T	0.012	0.04510	T	10	0.005660802	0.00126	T	.	.	.	0.051	0.14325	.	.	0.0297737177859	0.01360	0.12250603467386734	0.12177	0.238885580098	0.26443	.	.	.	.	.	.	-0.575007	0.00207	T	-0.578462	0.14682	T	0.0271089205306504	0.01560	T	0.608739	0.23867	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.30211	B	.;.;.;.	.;.;.;.	1.732206	0.22045	15.46	0.9281016935863946	0.22335	0.75720	0.37088	D	AEFGI	0.152045	0.27665	N	-0.20663209233838	0.32861	1.857969	-0.156974835452625	0.33140	1.89268	0.322556305796933	0.19399	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.53	1.57	0.22490	0.737000	0.25812	0.461000	0.18618	0.587000	0.30956	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.1311:0.0:0.2731:0.5958	7.601	0.27245	362	0.84826	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	3004.68	34	chr9	111713160	.	T	C	3004.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.130e-01;DP=900;ExcessHet=0.3300;FS=0.450;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=1.23;SOR=0.725	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1095	18	0	3	0
chr9	112062980	112062980	G	A	exonic	SUSD1	.	nonsynonymous SNV	SUSD1:NM_001282640:exon13:c.C1807T:p.R603C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.995	D	0.736	P	0.270	N	0.903	D	1.32	L	1.61	T	-0.878	T	0.148	T	0.404	2.235	13.43	4.16	1.234	0.684	6.455	0.047	0.0342253869022	0.0006	.	0.0006	0.0005	0	0	0	0.0009	0.0011	0.0002	0.0005045	78	154602	rs141503818	0.0007	0.0007	0.0007	0.0006	0.0005	0.0006	0.0006	0.0004	0.0004	0.0003	0.0001	0.0141	0	0	0	0.0005	0.0011	3.479e-05	0.0005	0.0005	0.0005	0.0004	0.0002	0.0004	0.0003	0.0001	8.875e-05	0.0002	0	6.543e-05	0.0135	0.0002	0	0	0.0002	0.0005	0	0.038	0.42783	D	0.013	0.63109	D	0.995	0.67487	D	0.736	0.55529	P	0.270224	0.15142	N	0.553031	0.903449	0.36228	D	1.225	0.30651	L	0.61	0.53516	T	-2.17	0.49018	N	0.39	0.44570	-0.8780	0.49919	T	0.148	0.47380	T	10	0.0100227	0.00224	T	0.034225	0.55532	D	0.127	0.34888	.	.	0.565829876908	0.56246	0.6070603460225796	0.60637	0.637688771769	0.57507	0.275810837746	0.06915	T	0.049097	0.28208	T	-0.330251	0.06092	T	-0.369428	0.36955	T	0.0156937659004222	0.00362	T	0.922708	0.74042	D	0.088368855	0.20612	0.06985978	0.14771	0.088368855	0.20612	0.06985978	0.14770	-10.592	0.78437	D	.	.	0.144	0.31683	B	.;.;.	.;.;.	3.028714	0.40563	21.2	0.99871067100064947	0.94902	0.10779	0.16186	N	AEFBI	0.106590	0.21262	N	-0.271468543997565	0.30254	1.685265	-0.326920716654323	0.27233	1.509662	0.999964688538345	0.48965	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.567339	0.31927	0	.	.	5.07	4.16	0.48138	0.702000	0.25307	3.349000	0.37769	0.676000	0.76740	0.017000	0.19353	0.999000	0.35428	0.080000	0.17246	0.0972:0.0:0.7208:0.182	6.455	0.21124	774	0.48577	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	963.98	36	chr9	112062980	.	G	A	963.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.660e-01;DP=790;ExcessHet=0.0000;FS=0.786;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=2.02;SOR=0.577	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1065	20	0	1	0
chr9	112111798	112111798	G	A	exonic	SUSD1	.	nonsynonymous SNV	SUSD1:NM_001282640:exon8:c.C1027T:p.R343C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.998	D	0.707	P	0.024	N	0.970	N	0	N	-0.75	T	-1.034	T	0.049	T	0.493	3.013	16.05	4.7	1.471	3.323	9.929	0.026	0.017239269672	7.7e-05	0.000199681	0.0002	0	0.0004	0	0.0002	0.0003	0.0011	0.0001	0.000207	32	154602	rs145780084	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	9.9e-05	0.0001	0.0001	0	0.0002	0.0033	2.519e-05	0	0.0002	4.047e-05	0.0003	0.0001	0.0003	0.0003	0.0003	0.0004	0.0004	0.0003	0.0002	0.0002	0.0001	0	0.0296	0.0004	0.0040	0	9.434e-05	0	2.94e-05	0.0005	0.0002	0.003	0.72154	D	0.045	0.51112	D	0.998	0.73220	D	0.707	0.54387	P	0.024009	0.26338	N	0.270733	0.969904	0.25730	N	0	0.06538	N	-0.78	0.74159	T	-1.74	0.41239	N	0.342	0.38335	-1.0342	0.19109	T	0.049	0.20987	T	10	0.00815174	0.00185	T	0.017239	0.38857	T	0.345	0.66676	.	.	0.510700632011	0.50711	0.3618187410724105	0.36095	0.467196665492	0.46105	0.335422039032	0.15751	T	0.023487	0.17920	T	-0.195188	0.21501	T	-0.224663	0.52287	T	0.0630732216699709	0.07643	T	0.738026	0.35555	T	0.07835325	0.17837	0.057091005	0.10317	0.07835325	0.17837	0.057091005	0.10317	-8.487	0.64343	D	.	.	0.194	0.41526	B	.;.;.	.;.;.	4.220911	0.63840	24.6	0.99812745516878609	0.89620	0.78927	0.39018	D	AEFDBI	0.398014	0.47386	N	-0.0138953185831274	0.41226	2.462181	0.0851996297612083	0.43803	2.674592	0.999999611205708	0.74766	0.706548	0.73137	0	0.659037	0.61890	0	0.616094	0.41390	0	0.714379	0.83352	0	.	.	5.61	4.7	0.58776	2.478000	0.44848	6.552000	0.55914	0.676000	0.76740	0.668000	0.28331	0.999000	0.35428	0.971000	0.54645	0.0952:0.0:0.9048:0.0	9.929	0.40679	825	0.40060	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1409.98	33	chr9	112111798	.	G	A	1409.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.491;DP=796;ExcessHet=0.0000;FS=1.628;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=0.386;SOR=0.505	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1230	20	0	1	0
chr9	112124289	112124289	C	T	exonic	SUSD1	.	nonsynonymous SNV	SUSD1:NM_001282640:exon6:c.G854A:p.G285D	.	.	436	1080	6	0	0	6	0.00277008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	1.0	D	1.0	D	0.000	D	0.979	D	3.06	M	0.48	T	-0.338	T	0.298	T	0.603	4.171	21.6	4.95	1.474	3.015	10.880	0.319	0.039828258203	0.0036	0.000399361	0.0026	0.0006	0.0014	0	0.0011	0.0042	0	6.117e-05	0.0026002	402	154602	rs146879704	0.0030	0.0030	0.0030	0.0030	0.0036	0.0029	0.0029	0.0035	0.0035	0.0005	0.0018	0.0005	5.038e-05	0.0013	0.0031	0.0036	0.0023	0.0001	0.0024	0.0024	0.0027	0.0022	0.0041	0.0022	0.0021	0.0037	0.0036	0.0006	0.0022	0.0021	0.0009	0	0.0017	0.0136	0.0041	0.0028	0	0.008	0.58626	D	0.081	0.42614	T	1.0	0.90584	D	1.0	0.97372	D	0.000201	0.48115	D	0.000000	0.979265	0.39544	D	3.315	0.90654	M	0.48	0.55945	T	-3.58	0.70314	D	0.633	0.65758	-0.3382	0.73896	T	0.298	0.66924	T	10	0.012603849	0.00270	T	0.039828	0.59031	D	0.407	0.71946	.	.	0.64631468906	0.64338	0.978481959931082	0.97839	0.824216072562	0.67307	0.497405380011	0.38466	T	0.166527	0.51279	T	-0.285006	0.10145	T	-0.181902	0.56347	T	0.066999169964882	0.08224	T	0.856014	0.54441	D	0.41202864	0.61557	0.40520808	0.64927	0.41202864	0.61558	0.40520808	0.64927	-13.083	0.89786	D	.	.	0.586	0.68305	P	.;.;.	.;.;.	4.427291	0.68622	25.3	0.99836683661152226	0.91800	0.75070	0.36741	D	AEFBI	0.254599	0.37388	N	0.674758899572937	0.77978	6.780056	0.61250545140333	0.75846	6.383561	0.999917707520526	0.45857	0.706548	0.73137	0	0.670034	0.63936	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.85	4.95	0.64894	3.238000	0.51051	3.954000	0.40696	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9137:0.0:0.0863	10.880	0.46143	819	0.41190	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1702.98	34	chr9	112124289	.	C	T	1702.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.050e-01;DP=822;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.20;ReadPosRankSum=-8.860e-01;SOR=0.660	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1169	20	0	1	0
chr9	112262562	112262562	T	G	exonic	PTBP3	.	nonsynonymous SNV	PTBP3:NM_001244896:exon4:c.A188C:p.Q63P	.	.	425	1073	22	2	0	26	0.0119705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.991	D	0.926	D	0.000	D	1.000	D	2.44	M	1.38	T	0.432	D	0.663	D	0.541	4.515	24.3	5.86	2.240	2.578	16.267	0.217	0.0345064811117	0.0013	0.00139776	0.0022	9.649e-05	0.0009	0	0.0008	0.0018	0.0044	0.0072	0.0018952	293	154602	rs144595337	0.0014	0.0014	0.0012	0.0016	0.0090	0.0013	0.0013	0.0071	0.0064	0.0002	0.0012	7.662e-05	2.537e-05	0.0011	0.0090	0.0010	0.0021	0.0070	0.0009	0.0009	0.0008	0.0010	0.0048	0.0008	0.0008	0.0033	0.0028	0.0002	0	0.0014	0	0	0.0010	0.0034	0.0011	0.0014	0.0048	0.019	0.50132	D	0.094	0.41573	T	0.991	0.64070	D	0.926	0.66095	D	0.000102	0.50451	D	0.178585	0.999837	0.49637	D	2.65	0.77586	M	0.34	0.79666	T	-2.78	0.70314	D	0.385	0.46462	0.432	0.89573	D	0.663	0.88287	D	10	0.008808792	0.00200	T	0.034506	0.55723	D	0.217	0.51112	.	.	0.610410000811	0.60727	0.668210128799659	0.66759	0.155271682527	0.17525	0.427526414394	0.28870	T	0.229421	0.59524	T	-0.239945	0.15356	T	-0.113296	0.62348	T	0.0578514235064228	0.06826	T	0.875612	0.58729	D	0.66151863	0.75980	0.6524627	0.79661	0.66151863	0.75981	0.6524627	0.79662	-7.902	0.62835	D	.	.	0.060	0.10304	B	.;.;.;.;.;.	.;.;.;.;.;.	3.348243	0.46170	22.3	0.99523916324266826	0.69407	0.94007	0.59833	D	AEFBHCI	0.724574	0.67383	D	0.597539304070475	0.73020	5.898496	0.602351042160426	0.75112	6.253018	0.999999954581131	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.86	5.86	0.93936	2.995000	0.49129	4.242000	0.42712	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.267	0.82413	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	671.98	34	chr9	112262562	.	T	G	671.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.700e-02;DP=834;ExcessHet=0.0000;FS=2.058;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.34;ReadPosRankSum=1.45;SOR=0.972	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	20	0	1	0
chr9	112332799	112332799	-	T	exonic	PTBP3	.	frameshift insertion	PTBP3:NM_001244898:exon1:c.44dupA:p.N15Kfs*2,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.854e-05	0	0	0	0	0	0	0.0006	5.82e-05	9	154602	rs747249256	2.328e-05	2.326e-05	4.088e-06	4.267e-05	0.0003	1.676e-05	1.479e-05	0.0003	0.0002	0	0	0	0	0	0	8.995e-07	4.971e-05	0.0003	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0.0034	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	494.94	33	chr9	112332799	.	A	AT	494.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.394e+00;DP=730;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=-1.087e+00;SOR=0.752	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1176	20	0	1	0
chr9	112416942	112416948	GTGGTAG	-	exonic	HSDL2	.	nonframeshift deletion	HSDL2:NM_032303:exon5:c.497_499del:p.C166_A167delinsS,	.	.	424	1093	5	0	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	8.969e-05	0	0	7.78e-05	0	0.0010	0.0001358	21	154602	rs753784761	8.629e-05	0.0001	6.066e-05	0.0001	0.0016	7.332e-05	6.851e-05	0.0008	0.0006	0	0.0001	0	2.564e-05	1.876e-05	0.0016	3.441e-05	0.0001	0.0007	8.535e-05	8.53e-05	3.855e-05	0.0001	0.0008	4.953e-05	3.96e-05	0.0003	0.0002	4.811e-05	0	0	0	0	0	0	0.0001	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1281.94	33	chr9	112416941	.	TGTGGTAG	T	1281.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.360e-01;DP=802;ExcessHet=0.0000;FS=4.613;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.44;ReadPosRankSum=2.11;SOR=0.312	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1087	20	0	1	0
chr9	112460709	112460709	G	A	exonic	C9orf147	.	nonsynonymous SNV	C9orf147:NM_001350649:exon4:c.C298T:p.R100W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs777347047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.326e-05	1.314e-05	0	2.718e-05	0.0002	2.2e-06	8.3e-07	.	.	0	0	0	0	0.0002	0	0	1.473e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	32.13	4	chr9	112460709	.	G	A	32.13	.	AC=2;AF=0.050;AN=40;DP=90;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2144;MLEAC=1;MLEAF=0.025;MQ=60.00;QD=16.07;SOR=0.693	GT:AD:DP:GQ:PL	0/0:5,0:5:15:0,15,133	19	1	0	1
chr9	112838537	112838537	C	T	exonic	SNX30	.	nonsynonymous SNV	SNX30:NM_001012994:exon6:c.C854T:p.S285F,	.	.	432	1079	10	1	0	12	0.00552995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.998	D	0.977	D	0.000	D	1.000	D	1.7	L	1.73	T	-0.985	T	0.112	T	0.879	3.429	17.60	5.4	2.524	7.443	19.183	0.281	.	0.0006	0.00339457	0.0013	0	0.0004	0	0	0.0009	0	0.0055	0.0011643	180	154602	rs192545589	0.0008	0.0008	0.0006	0.0009	0.0051	0.0007	0.0007	0.0047	0.0046	0.0004	0.0006	0	0	0	0.0033	0.0005	0.0008	0.0051	0.0007	0.0007	0.0007	0.0007	0.0050	0.0006	0.0006	0.0034	0.0029	0.0003	0	0.0012	0	0	0	0.0102	0.0007	0.0019	0.0050	0.028	0.46129	D	0.062	0.45318	T	0.998	0.73220	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.39	0.68882	M	1.73	0.26445	T	-2.26	0.50502	N	0.654	0.66443	-0.9849	0.33856	T	0.112	0.40052	T	10	0.009195298	0.00208	T	.	.	.	0.281	0.59861	.	.	0.176862962021	0.17281	0.6963577927378339	0.69576	1.03830873914	0.75688	0.68744379282	0.65339	T	0.208901	0.56896	T	-0.12288	0.32655	T	0.0523577	0.73739	D	0.127531483769417	0.15152	T	0.950605	0.81072	D	0.32067564	0.54697	0.23084652	0.48198	0.32067564	0.54697	0.23084652	0.48197	-8.073	0.61567	D	.	.	0.247	0.48124	B	.	.	4.572592	0.72161	25.8	0.99805050807870455	0.88906	0.98676	0.85452	D	AEFBI	0.894895	0.83436	D	0.618525323020078	0.74345	6.117228	0.573728917633802	0.73064	5.909455	0.999999999999996	0.74766	0.638212	0.43195	0	0.593476	0.48661	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.4	5.4	0.77957	7.568000	0.81546	7.626000	0.62520	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.586000	0.31041	0.0:1.0:0.0:0.0	19.183	0.93617	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2125.11	37	chr9	112838537	.	C	T	2125.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.31;DP=826;ExcessHet=0.1072;FS=3.971;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=0.760;SOR=0.449	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1307	19	0	2	0
chr9	113042999	113042999	G	A	exonic	ZFP37	.	nonsynonymous SNV	ZFP37:NM_001282515:exon4:c.C1664T:p.T555I	.	.	390	1129	2	1	0	4	0.00176835	.	.	2350062	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.99	D	0.876	P	0.000	D	0.946	D	1.695	L	1.78	T	-0.957	T	0.098	T	0.552	3.044	16.16	3.53	1.453	4.523	6.299	0.162	0.00986463742144	0.0002	.	8.254e-05	9.617e-05	0.0002	0	0	0.0001	0	0	8.41e-05	13	154602	rs149645659	4.858e-05	4.857e-05	4.357e-05	5.364e-05	0.0003	3.927e-05	3.605e-05	7.286e-05	5.163e-05	0	0.0002	0	0	0.0001	0.0003	4.227e-05	0.0001	1.159e-05	4.602e-05	4.597e-05	6.426e-05	2.691e-05	8.823e-05	2.11e-05	1.527e-05	3.763e-05	2.576e-05	0	0	6.545e-05	0	0	0	0	8.823e-05	0	0	0.0	0.91255	D	0.003	0.76473	D	0.99	0.63424	D	0.876	0.62173	P	0.000350	0.45440	D	0.000000	0.945512	0.37490	D	1.57	0.39626	L	1.78	0.25678	T	-5.58	0.86608	D	0.345	0.51583	-0.9570	0.39735	T	0.098	0.36548	T	10	0.30584216	0.48099	T	0.009865	0.25698	T	0.162	0.41843	.	.	0.496165130923	0.49253	0.11629488499988143	0.11557	0.465128629096	0.45962	0.802034258842	0.82273	T	0.106935	0.41871	T	-0.225039	0.17311	T	-0.305984	0.44088	T	0.484297603368759	0.32055	T	0.186781	0.01946	T	0.6062477	0.73026	0.5085408	0.71598	0.6062477	0.73027	0.5085408	0.71598	-9.205	0.69349	D	.	.	0.874	0.81093	P	.;.;.	.;.;.	4.400717	0.67996	25.2	0.99837472756340118	0.91800	0.00503	0.02366	N	AEFBHCI	0.697139	0.65525	D	0.386141763850967	0.60669	4.258546	0.376981977601489	0.60148	4.199345	0.100370156485502	0.16352	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	4.43	3.53	0.39533	4.780000	0.62075	4.456000	0.43441	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.097:0.1889:0.7141:0.0	6.299	0.20313	860	0.33753	Zinc finger C2H2-type;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1235.98	34	chr9	113042999	.	G	A	1235.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.05;DP=761;ExcessHet=0.0000;FS=0.834;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.26;ReadPosRankSum=-8.880e-01;SOR=0.563	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1288	20	0	1	0
chr9	113297610	113297610	C	A	exonic	RNF183	.	nonsynonymous SNV	RNF183:NM_001371234:exon2:c.G575T:p.G192V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.963	D	0.023	N	1.000	D	0.345	N	1.81	T	-1.016	T	0.090	T	0.495	2.545	14.47	5.46	2.840	3.169	16.861	0.186	0.017749124244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.963	0.70837	D	0.022784	0.26566	N	0.294563	0.999994	0.58761	D	0.55	0.14455	N	1.81	0.25182	T	-1.91	0.44471	N	0.397	0.49146	-1.0157	0.25110	T	0.090	0.34628	T	10	0.33291066	0.50490	T	0.017749	0.39570	T	0.186	0.46104	0.453	0.51612	0.481915485015	0.47822	0.8401824353595216	0.83978	1.14165798427	0.78952	0.480162739754	0.36079	T	0.007439	0.06846	T	-0.0902804	0.38030	T	-0.367458	0.37185	T	0.861235499382019	0.51164	D	0.572043	0.20399	T	0.31634584	0.54330	0.41733962	0.65790	0.31634584	0.54330	0.41733962	0.65791	-3.656	0.18671	T	.	.	0.241	0.47535	B	.;.;.;.	.;.;.;.	3.282927	0.44992	22.0	0.997061924334678	0.81005	0.95732	0.65918	D	AEFBI	0.601938	0.59399	D	0.396121017251961	0.61212	4.319225	0.399629424281261	0.61540	4.35576	0.999886611100648	0.44867	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.46	5.46	0.80021	2.742000	0.47109	3.774000	0.39765	0.599000	0.40250	0.658000	0.28243	0.999000	0.35428	0.090000	0.17789	0.0:1.0:0.0:0.0	16.861	0.85884	819	0.41190	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	791.98	34	chr9	113297610	.	C	A	791.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=861;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.25;ReadPosRankSum=-8.820e-01;SOR=0.704	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	20	0	1	0
chr9	113298067	113298067	A	C	exonic	RNF183	.	nonsynonymous SNV	RNF183:NM_001371234:exon2:c.T118G:p.C40G	.	.	431	1066	25	0	0	25	0.0115902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	4.25	H	-6.45	D	0.953	D	0.993	D	0.958	4.182	21.7	5.26	2.212	7.101	13.189	0.838	0.618729951526	0.0003	0.000599042	0.0005	0	0.0002	0	0	0.0006	0.0011	0.0012	0.0004916	76	154602	rs180833376	0.0004	0.0004	0.0004	0.0005	0.0066	0.0004	0.0004	0.0049	0.0044	8.961e-05	0.0004	0.0001	0	3.745e-05	0.0066	0.0003	0.0008	0.0014	0.0005	0.0005	0.0006	0.0004	0.0010	0.0004	0.0004	0.0005	0.0005	0.0001	0	0.0008	0	0	0	0.0034	0.0007	0.0009	0.0010	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999991	0.58761	D	4.79	0.99631	H	-6.45	0.99697	D	-12.0	0.99623	D	0.848	0.86618	0.953	0.96441	D	0.993	0.99826	D	10	0.6715897	0.70745	D	0.61873	0.96693	D	0.838	0.94914	.	.	0.948954076528	0.94841	0.880141901145841	0.87982	1.27124136584	0.82271	0.697565674782	0.66793	T	0.264316	0.63608	T	0.268087	0.80269	D	0.56676	0.96180	D	0.809352993965149	0.47001	D	0.70043	0.31009	T	0.9356994	0.94811	0.9033299	0.95212	0.9356994	0.94811	0.9033299	0.95213	-10.825	0.78689	D	.	.	0.903	0.82987	P	.;.;.;.	.;.;.;.	4.774489	0.77316	26.7	0.98437898938686685	0.41475	0.97775	0.77043	D	AEFBI	0.941918	0.94582	D	0.984595018962136	0.95251	13.44558	0.871806562731723	0.94224	12.59608	0.99999999865519	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.26	5.26	0.73479	7.956000	0.87398	8.942000	0.78426	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.919000	0.45453	1.0:0.0:0.0:0.0	13.189	0.59123	819	0.41190	Zinc finger, RING-type|Zinc finger, RING-type, conserved site|Zinc finger, RING-type|Zinc finger, RING-type;Zinc finger, RING-type|Zinc finger, RING-type, conserved site|Zinc finger, RING-type|Zinc finger, RING-type;Zinc finger, RING-type|Zinc finger, RING-type, conserved site|Zinc finger, RING-type|Zinc finger, RING-type;Zinc finger, RING-type|Zinc finger, RING-type, conserved site|Zinc finger, RING-type|Zinc finger, RING-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1463.98	37	chr9	113298067	.	A	C	1463.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.59;DP=961;ExcessHet=0.0000;FS=0.745;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.35;ReadPosRankSum=-8.460e-01;SOR=0.825	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	20	0	1	0
chr9	113331956	113331956	C	T	exonic	WDR31	.	nonsynonymous SNV	WDR31:NM_001012361:exon3:c.G67A:p.V23M	.	.	.	.	.	.	.	.	.	.	.	2367759	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.011	B	0.006	B	0.019	N	1.000	N	1.1	L	-0.23	T	-0.959	T	0.195	T	0.07	1.057	9.316	-1.21	-0.098	-0.481	5.643	0.039	0.0144475767063	0.0002	.	0.0002	0	8.64e-05	0.0002	0	0.0004	0	0.0001	0.0002199	34	154602	rs144785948	0.0002	0.0002	0.0002	0.0003	0.0007	0.0002	0.0002	0.0002	0.0002	5.975e-05	6.709e-05	0.0029	5.039e-05	1.873e-05	0.0007	0.0002	0.0006	0.0002	0.0001	0.0001	0.0002	0.0001	0.0002	8.666e-05	7.257e-05	0.0001	8.876e-05	0	0	0	0.0017	0	0	0	0.0002	0.0005	0	0.104	0.50132	T	0.14	0.33554	T	0.011	0.15914	B	0.006	0.12133	B	0.019306	0.01508	N	2.161290	1	0.08975	N	0.69	0.16971	N	-0.27	0.67367	T	-0.12	0.32185	N	0.145	0.14622	-0.9588	0.39405	T	0.195	0.54855	T	10	0.014645547	0.00308	T	0.014448	0.34575	T	0.039	0.10176	.	.	0.331365685468	0.32749	0.1797937446067465	0.17898	0.114589524545	0.12926	0.291436046362	0.09131	T	0.006425	0.05852	T	-0.428901	0.01505	T	-0.579564	0.14584	T	0.00663782427309089	0.00074	T	0.478252	0.14398	T	0.03595994	0.04332	0.051299334	0.08229	0.03595994	0.04331	0.051299334	0.08228	-4.962	0.36425	T	.	.	0.094	0.14888	B	.;.;.	.;.;.	0.412542	0.07833	4.529	0.70014454588222907	0.09158	0.01244	0.04385	N	AEFDI	0.049553	0.08572	N	-1.09682081968849	0.06701	0.3092377	-1.12988492410652	0.07134	0.3458915	0.998750658460685	0.37602	0.516011	0.20929	0	0.588066	0.40923	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.87	-1.21	0.09033	-0.394000	0.07357	-1.048000	0.06492	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.1287:0.4385:0.0:0.4328	5.643	0.16852	832	0.38914	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	696.98	33	chr9	113331956	.	C	T	696.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.000e-01;DP=785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.94;ReadPosRankSum=-1.630e-01;SOR=0.714	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1144	20	0	1	0
chr9	113425366	113425368	GCA	-	exonic	C9orf43	.	nonframeshift deletion	C9orf43:NM_001278629:exon10:c.888_890del:p.Q304del	.	.	0	191	29	0	6	35	0.0705596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0455	.	0.0077	0.0081	0.0088	0.0112	0.0082	0.0065	0.0057	0.0093	0.0003074	8	26028	rs371732185	9.978e-05	0.0028	8.758e-05	0.0001	0.0007	8.629e-05	8.095e-05	0.0002	0.0001	6.014e-05	9.044e-05	7.73e-05	0.0002	0.0002	0.0007	9.397e-05	3.334e-05	0.0001	1.317e-05	3.94e-05	1.288e-05	1.347e-05	0.0002	2.19e-06	8.2e-07	.	.	2.413e-05	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1735.12	34	chr9	113425365	.	GGCA	G,GGCAGCA	1735.12	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=0.392;DP=680;ExcessHet=0.6776;FS=4.348;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=-5.560e-01;SOR=1.079	GT:AD:DP:GQ:PL	0/1:26,4,0:30:90:90,0,1079,168,1091,1260	17	0	1	0
chr9	113425368	113425368	-	GCA	exonic	C9orf43	.	nonframeshift insertion	C9orf43:NM_001278629:exon10:c.890_891insGCA:p.Q304_K305insQ	.	.	0	191	29	0	6	35	0.0705596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1735.12	34	chr9	113425365	.	GGCA	G,GGCAGCA	1735.12	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=0.392;DP=680;ExcessHet=0.6776;FS=4.348;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=-5.560e-01;SOR=1.079	GT:AD:DP:GQ:PL	0/1:26,4,0:30:90:90,0,1079,168,1091,1260	17	0	1	0
chr9	113479495	113479495	G	C	exonic	RGS3	.	nonsynonymous SNV	RGS3:NM_017790:exon2:c.G84C:p.Q28H	.	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.972	D	0.517	P	0.001	N	1.000	D	1.75	L	0.87	T	-0.561	T	0.340	T	0.428	2.561	14.52	1.31	0.079	1.860	6.490	0.182	0.0432851632822	0.0009	0.00119808	0.0020	0	0	0.0028	0.0062	0.0024	0.0066	0.0006	0.0017982	278	154602	rs145020127	0.0013	0.0013	0.0012	0.0013	0.0015	0.0012	0.0012	0.0012	0.0011	8.961e-05	0	0.0044	0.0015	0.0060	0.0009	0.0011	0.0017	0.0006	0.0015	0.0015	0.0011	0.0018	0.0017	0.0013	0.0012	0.0012	0.0011	0.0002	0	0	0.0037	0.0017	0.0087	0	0.0014	0.0014	0.0006	0.001	0.78490	D	0.001	0.83351	D	0.972	0.57405	D	0.517	0.48105	P	0.001105	0.40219	N	0.097223	0.998305	0.22236	N	2.42	0.70002	M	-1.06	0.76819	T	-1.14	0.44657	N	0.711	0.72209	-0.5609	0.66369	T	0.340	0.70608	T	10	0.01401636	0.00322	T	0.043285	0.60905	D	0.182	0.45420	0.447	0.50629	0.572862713182	0.56953	0.28183424560469206	0.28096	0.405664431378	0.41463	0.39607489109	0.24522	T	0.080791	0.36448	T	-0.280566	0.10607	T	-0.182575	0.56285	T	0.118185397579416	0.14251	T	0.729627	0.34527	T	0.41151494	0.61522	0.11889444	0.28699	0.41151494	0.61522	0.11889444	0.28699	-8.36	0.63498	D	.	.	0.654	0.74748	P	.;.;.	.;.;.	3.159371	0.42797	21.6	0.99532335804541738	0.69963	0.81372	0.40789	D	AEFDBI	0.248403	0.36881	N	-0.0714033338953107	0.38650	2.26698	-0.115878328385396	0.34750	2.002416	0.998655501380157	0.37392	0.740787	0.97801	0	0.563428	0.19063	0	0.767554	0.98243	0	0.567892	0.33627	0	.	.	4.22	1.31	0.20837	1.776000	0.38223	2.218000	0.31426	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.3189:0.0:0.6811:0.0	6.490	0.21306	841	0.37094	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2029.98	35	chr9	113479495	.	G	C	2029.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.160e-01;DP=881;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=1.88;SOR=0.717	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1168	20	0	1	0
chr9	113583835	113583835	C	A	exonic	RGS3	.	nonsynonymous SNV	RGS3:NM_001276260:exon2:c.C386A:p.T129N	.	.	424	1085	12	1	0	14	0.00641026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.257	B	0.074	B	0.631	N	0.956	D	0	N	0.97	T	-1.043	T	0.064	T	0.022	1.893	12.29	1.48	0.340	-0.179	1.652	0.065	0.0116383772757	0.0016	0.00139776	0.0020	0.0002	0.0010	0	0.0006	0.0021	0.0033	0.0047	0.0018176	281	154602	rs144636307	0.0018	0.0018	0.0017	0.0019	0.0054	0.0017	0.0017	0.0039	0.0037	0.0002	0.0009	0.0039	2.519e-05	0.0005	0.0054	0.0017	0.0019	0.0042	0.0010	0.0010	0.0011	0.0009	0.0035	0.0009	0.0008	0.0022	0.0018	0.0002	0.0088	0.0005	0.0035	0.0002	0.0004	0.0034	0.0013	0.0009	0.0035	0.006	0.61437	D	0.474	0.15842	T	0.097	0.25541	B	0.016	0.17743	B	0.630887	0.10688	N	0.812091	0.956274	0.37966	D	0	0.06538	N	0.97	0.56281	T	0.08	0.09460	N	0.087	0.09631	-1.0432	0.16354	T	0.064	0.26385	T	10	0.0032565594	0.00056	T	0.011638	0.29466	T	0.065	0.18881	.	.	0.401185642668	0.39728	0.12725123018716517	0.12651	0.240522541658	0.26595	0.288265168667	0.08670	T	0.056486	0.30300	T	-0.597793	0.00150	T	-0.631472	0.10304	T	0.00878968984380188	0.00108	T	0.666633	0.27564	T	0.2586204	0.48912	0.08210692	0.18713	0.2586204	0.48912	0.08210692	0.18712	-4.236	0.30652	T	.	.	0.084	0.10739	B	.;.;.;.;.	.;.;.;.;.	0.603442	0.09717	6.488	0.93831056247187894	0.23818	0.14723	0.18552	N	AEFDBCI	0.068592	0.13537	N	-0.92594889838333	0.10238	0.4882922	-0.928952033967369	0.11413	0.581253	0.999957443507595	0.48110	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.42	1.48	0.21900	0.387000	0.20445	0.891000	0.22473	0.596000	0.33519	0.001000	0.13787	0.000000	0.08366	0.219000	0.22435	0.1685:0.4829:0.1638:0.1849	1.652	0.02606	866	0.32446	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3689.11	34	chr9	113583835	.	C	A	3689.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.27;DP=1012;ExcessHet=0.1072;FS=3.045;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=1.61;SOR=0.829	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1341	19	0	2	0
chr9	114028804	114028804	C	A	exonic	ZNF618	.	nonsynonymous SNV	ZNF618:NM_001318040:exon10:c.C820A:p.P274T	.	.	424	1094	4	0	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.596	P	0.05	B	0.031	N	1.000	D	.	.	2.33	T	-1.056	T	0.029	T	0.367	0.933	8.800	5.61	2.647	2.385	16.778	0.043	0.0116686669378	.	.	0.0005	0	0	0	0	0.0010	0	0.0004	6.47e-05	10	154602	rs759571727	0.0004	0.0004	0.0004	0.0004	0.0105	0.0004	0.0004	0.0084	0.0076	0.0002	0.0011	0.0009	0	0	0.0105	0.0003	0.0008	0.0004	0.0003	0.0003	0.0003	0.0002	0.0011	0.0002	0.0002	0.0007	0.0006	2.406e-05	0	0.0011	0.0003	0	0	0.0102	0.0002	0.0024	0.0002	0.489	0.91255	T	0.573	0.09022	T	0.18	0.39217	B	0.021	0.25278	B	0.031188	0.25203	N	0.360202	1	0.81001	D	0	0.06538	N	2.33	0.16492	T	-0.78	0.21644	N	0.145	0.20793	-1.0558	0.12829	T	0.029	0.12453	T	9	0.03348905	0.01527	T	0.011669	0.29526	T	0.043	0.11576	.	.	0.082315109003	0.07666	0.4546271130240853	0.45380	.	.	.	.	.	0.023042	0.17656	T	-0.42671	0.01552	T	-0.447709	0.27950	T	0.0256903383677831	0.01365	T	0.908709	0.68064	D	0.06480757	0.13787	0.0733478	0.15927	0.06480757	0.13786	0.0733478	0.15927	-3.98	0.24757	T	.	.	0.064	0.02370	B	.;.;.	.;.;.	2.286599	0.29245	18.06	0.56517232437688913	0.05569	0.90972	0.52612	D	AEFDBI	0.309249	0.41560	N	0.0669011810805397	0.44922	2.75769	0.226154501635002	0.51304	3.314032	0.999999840458036	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.61	5.61	0.85347	2.442000	0.44531	3.337000	0.37675	-0.188000	0.09543	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:1.0:0.0:0.0	16.778	0.85418	824	0.40336	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1270.98	33	chr9	114028804	.	C	A	1270.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.700e-02;DP=887;ExcessHet=0.0000;FS=3.302;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.42;ReadPosRankSum=0.731;SOR=0.455	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,111,1665	20	0	1	0
chr9	114048663	114048663	G	T	exonic	ZNF618	.	nonsynonymous SNV	ZNF618:NM_001318040:exon14:c.G1262T:p.G421V	.	.	426	1083	13	0	0	13	0.00596604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.22	B	0.058	B	0.075	N	0.999	D	.	.	4.48	T	-0.779	T	0.005	T	0.24	2.308	13.68	3.16	1.134	4.804	10.574	0.029	.	0.0002	0.00179712	0.0017	0	0.0003	0	0	0.0007	0.0012	0.0109	0.0014424	223	154602	rs190597134	0.0009	0.0009	0.0006	0.0011	0.0092	0.0008	0.0008	0.0086	0.0084	8.966e-05	0.0002	0.0051	0	1.877e-05	0.0031	0.0002	0.0011	0.0092	0.0005	0.0005	0.0005	0.0005	0.0062	0.0004	0.0004	0.0045	0.0039	4.812e-05	0	0.0002	0.0063	0.0002	0	0	0.0003	0.0005	0.0062	0.044	0.41096	D	0.034	0.52727	D	0.112	0.26290	B	0.039	0.23607	B	0.074829	0.21260	N	0.482787	0.999259	0.46462	D	1.1	0.28011	L	4.48	0.02067	T	-1.44	0.35399	N	0.298	0.33687	-0.7793	0.56342	T	0.005	0.01761	T	9	0.0047299564	0.00100	T	.	.	.	0.029	0.06676	.	.	0.043077524339	0.03247	0.5078357874647947	0.50705	0.591383642499	0.54578	0.483469903469	0.36534	T	0.042757	0.26284	T	-0.545226	0.00312	T	-0.548564	0.17464	T	0.0197437930516897	0.00676	T	0.816518	0.47234	T	0.08769088	0.20431	0.13134418	0.31541	0.08769088	0.20430	0.13134418	0.31540	-2.721	0.08739	T	.	.	0.076	0.05890	B	.;.;.	.;.;.	4.011455	0.59186	24.1	0.98320122170880031	0.40231	0.95229	0.63916	D	AEFDBI	0.445281	0.50182	N	-0.194993112299103	0.33343	1.890552	-0.0647576770646526	0.36857	2.150452	0.94612588359683	0.27692	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.16	3.16	0.35406	2.324000	0.43491	7.363000	0.58355	0.676000	0.76740	0.985000	0.35982	1.000000	0.68203	0.994000	0.71098	0.0:0.1443:0.706:0.1496	10.574	0.44406	777	0.48198	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	574.98	33	chr9	114048663	.	G	T	574.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.040e-01;DP=876;ExcessHet=0.0000;FS=1.039;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.91;ReadPosRankSum=-2.530e-01;SOR=0.970	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,101,1308	20	0	1	0
chr9	114076605	114076605	G	C	exonic	AMBP	.	nonsynonymous SNV	AMBP:NM_001633:exon2:c.C253G:p.R85G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.978	D	0.828	P	0.586	N	1.000	N	1.69	L	-1.5	D	-0.524	T	0.500	T	0.451	1.682	11.58	2.86	1.994	1.669	7.683	0.390	0.061572197129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.341	0.12673	T	0.137	0.33894	T	0.956	0.54666	P	0.828	0.59497	P	0.585944	0.11097	N	0.794321	0.999999	0.08975	N	1.825	0.47900	L	-1.5	0.81318	D	-1.96	0.45404	N	0.713	0.71587	-0.5245	0.67748	T	0.500	0.81096	T	10	0.815874	0.80827	D	0.061572	0.68375	D	0.390	0.70603	0.688	0.82558	0.89407510043	0.89302	0.7773025837517823	0.77680	0.476791464466	0.46802	0.212347328663	0.00915	T	0.106527	0.41794	T	0.0224971	0.54717	T	-0.205461	0.54128	T	0.442022468240448	0.30504	T	0.620138	0.23804	T	0.45549315	0.64389	0.1532301	0.36016	0.45549315	0.64390	0.1532301	0.36015	-8.908	0.67103	D	.	.	0.287	0.51891	B	.	.	3.809048	0.54931	23.5	0.99568853192645834	0.72258	0.25258	0.22645	N	AEFDBHCI	0.481351	0.52268	N	-0.0923992963553076	0.37726	2.198998	-0.266962093081062	0.29194	1.633659	0.999999997903279	0.74766	0.631981	0.41245	0	0.573888	0.26702	0	0.779548	0.98927	0	0.530356	0.10902	0	.	.	3.86	2.86	0.32427	1.994000	0.40377	6.175000	0.54547	0.676000	0.76740	0.018000	0.19461	0.996000	0.32793	0.377000	0.26268	0.0:0.0:0.7267:0.2733	7.683	0.27692	697	0.58201	Lipocalin/cytosolic fatty-acid binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1600.98	38	chr9	114076605	.	G	C	1600.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.110e-01;DP=852;ExcessHet=0.0000;FS=2.893;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.67;ReadPosRankSum=-5.640e-01;SOR=0.946	GT:AD:DP:GQ:PL	0/1:78,72:150:99:1615,0,1813	20	0	1	0
chr9	114330016	114330016	C	T	exonic	ORM2	.	nonsynonymous SNV	ORM2:NM_000608:exon1:c.C112T:p.R38W,	.	.	435	1082	5	0	0	5	0.00230521	0.0016	0.05	2761981	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.002	B	0.001	B	0.018	N	1.000	N	-0.22	N	2.25	T	-1.029	T	0.040	T	0.099	0.082	4.442	-5.32	-1.977	-1.636	3.676	0.021	0.00478542452078	0.0002	0.000399361	0.0002	0.0010	0	0	0	9.068e-05	0	0.0005	7.68e-05	2	26028	rs370008862	7.179e-05	7.321e-05	4.428e-05	9.97e-05	0.0006	6.025e-05	5.626e-05	0.0005	0.0004	0.0002	0.0001	0	0	0	0.0004	2.733e-05	0.0002	0.0006	0.0001	0.0001	0.0001	0.0002	0.0009	8.515e-05	7.012e-05	0.0003	0.0002	0.0003	0	0	0	0	0	0	5.932e-05	0	0.0009	0.284	0.15303	T	0.19	0.28482	T	0.002	0.09854	B	0.001	0.04355	B	0.018297	0.01484	N	2.323500	1	0.08975	N	0.82	0.20857	L	2.25	0.17761	T	1.77	0.00531	N	0.135	0.13198	-1.0293	0.20681	T	0.040	0.17063	T	10	0.009924918	0.00223	T	0.004785	0.11941	T	0.021	0.04004	.	.	0.117506650769	0.11410	0.5673541984152128	0.56663	2.25596430734	0.96136	.	.	.	0.002978	0.02381	T	-0.634372	0.00090	T	-0.792631	0.02093	T	0.0200365446859801	0.00704	T	0.70163	0.31127	T	0.16767883	0.37179	0.058079775	0.10671	0.16767883	0.37178	0.058079775	0.10670	-7.397	0.56883	T	.	.	0.126	0.26638	B	.	.	0.567807	0.09362	6.144	0.74860319409561638	0.10855	0.00155	0.00932	N	AEFDGBI	0.152286	0.27693	N	-1.51004836739312	0.01783	0.07812823	-1.61660698346242	0.01558	0.07059329	0.999999952920055	0.74766	0.559995	0.30671	0	0.514364	0.08380	0	0.527494	0.11647	0	0.542086	0.14980	0	.	.	2.66	-5.32	0.02511	-1.135000	0.03337	-1.769000	0.04759	0.291000	0.18778	0.000000	0.06391	0.000000	0.08366	0.044000	0.14658	0.4238:0.1556:0.0:0.4206	3.676	0.07829	624	0.65661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	382.98	34	chr9	114330016	.	C	T	382.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.200e-02;DP=727;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.62;MQRankSum=-1.070e-01;QD=9.34;ReadPosRankSum=0.353;SOR=0.624	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1245	20	0	1	0
chr9	114330017	114330017	G	A	exonic	ORM2	.	nonsynonymous SNV	ORM2:NM_000608:exon1:c.G113A:p.R38Q,	.	.	435	1084	3	0	0	3	0.00138185	0	0.008	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.026	B	0.001	B	0.018	N	1.000	N	-0.345	N	2.45	T	-1.041	T	0.032	T	0.036	0.475	6.577	-2.56	-0.672	-0.946	2.588	0.012	.	.	0.00319489	0.0039	0.0149	0.0035	0.0104	0.0030	0.0028	0.0022	0.0023	0.0013831	36	26028	rs147969317	0.0017	0.0032	0.0017	0.0017	0.0100	0.0016	0.0016	0.0091	0.0088	0.0100	0.0016	0.0181	0.0049	0.0012	0.0034	0.0009	0.0031	0.0015	0.0034	0.0048	0.0036	0.0032	0.0077	0.0032	0.0031	0.0070	0.0067	0.0077	0	0.0010	0.0199	0.0054	0.0006	0.0073	0.0012	0.0031	0.0015	0.544	0.06713	T	0.331	0.18505	T	0.026	0.19406	B	0.001	0.04355	B	0.018297	0.01484	N	2.323500	1	0.08975	N	0.55	0.14455	N	2.45	0.15028	T	0.49	0.02993	N	0.05	0.02179	-1.0407	0.17101	T	0.032	0.13767	T	10	0.003000021	0.00049	T	.	.	.	0.012	0.01476	.	.	0.0954503805726	0.09146	0.24244381273343107	0.24158	1.7173250147	0.90521	.	.	.	0.00128	0.00766	T	-0.452833	0.01087	T	-0.88824	0.00589	T	0.000523507168379068	0.00004	T	0.556144	0.19298	T	0.063782714	0.13466	0.058953926	0.10981	0.063782714	0.13466	0.058953926	0.10980	-1.651	0.02104	T	.	.	0.072	0.04159	B	.	.	-0.644395	0.01455	0.089	0.70322285213462099	0.09258	0.00704	0.02988	N	AEFDGBI	0.347476	0.44193	N	-1.62254332619592	0.01156	0.05024092	-1.66498243087482	0.01300	0.05866159	0.999995258515621	0.74766	0.559995	0.30671	0	0.514364	0.08380	0	0.527494	0.11647	0	0.542086	0.14980	0	.	.	2.77	-2.56	0.05903	-1.109000	0.03420	-1.826000	0.04656	-1.915000	0.00511	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.3508:0.0:0.2901:0.359	2.588	0.04542	624	0.65661	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1337.98	34	chr9	114330017	.	G	A	1337.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.220e-01;DP=841;ExcessHet=0.0000;FS=2.961;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.44;MQRankSum=-2.990e-01;QD=8.98;ReadPosRankSum=0.012;SOR=0.971	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1245	20	0	1	0
chr9	114331576	114331576	G	A	exonic	ORM2	.	nonsynonymous SNV	ORM2:NM_000608:exon4:c.G338A:p.R113Q,	.	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.001	B	0.001	B	0.085	N	1.000	N	1.115	L	3.14	T	-1.016	T	0.009	T	0.08	-1.178	0.084	-5.9	-4.920	-3.988	6.802	0.026	.	0.0059	0.00579073	0.0015	0.0162	0.0005	0	0	3.001e-05	0	6.066e-05	0.001423	220	154602	rs142633392	0.0005	0.0005	0.0006	0.0005	0.0186	0.0005	0.0005	0.0173	0.0169	0.0186	0.0005	0	0	1.872e-05	0.0005	3.598e-05	0.0013	9.276e-05	0.0049	0.0050	0.0051	0.0047	0.0168	0.0046	0.0045	0.0158	0.0153	0.0168	0	0.0022	0	0	0	0	0.0001	0.0038	0.0002	0.417	0.09927	T	0.35	0.17478	T	0.001	0.07471	B	0.001	0.04355	B	0.084964	0.02394	N	1.906400	1	0.08975	N	0.255	0.09829	N	3.14	0.07920	T	-0.56	0.17003	N	0.057	0.02861	-1.0159	0.25045	T	0.009	0.03271	T	10	0.003284514	0.00056	T	.	.	.	0.026	0.05648	.	.	0.0986583533028	0.09354	0.1790685206188053	0.17825	0.0106233313523	0.00978	.	.	.	0.003549	0.02960	T	-0.747746	0.00018	T	-0.832582	0.01217	T	0.00399802169276008	0.00042	T	0.361564	0.08348	T	0.046601556	0.07827	0.06449665	0.12937	0.046601556	0.07827	0.06449665	0.12936	-4.109	0.25423	T	.	.	0.083	0.09336	B	.	.	-2.452587	0.00035	0.001	0.52517849141254735	0.04763	0.00752	0.03125	N	AEFDBCI	0.182820	0.31014	N	-2.26146102077943	0.00056	0.00238746	-2.40678595403585	0.00038	0.00166709	0.999999999999871	0.74766	0.660377	0.49826	0	0.759151	0.99529	0	0.696353	0.63694	0	0.542086	0.14980	0	.	.	2.95	-5.9	0.02087	-4.326000	0.00288	-12.862000	0.00495	-2.044000	0.00422	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.121:0.0928:0.6382:0.148	6.802	0.22938	624	0.65661	Lipocalin/cytosolic fatty-acid binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1891.98	36	chr9	114331576	.	G	A	1891.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.73;DP=916;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=-1.213e+00;SOR=0.736	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1304	20	0	1	0
chr9	114361765	114361765	G	A	exonic	AKNA	.	nonsynonymous SNV	AKNA:NM_001317952:exon8:c.C1706T:p.T569M	.	.	410	1089	22	1	0	24	0.0108992	.	.	2826338	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.04	D	0.036	B	0.011	B	0.234	N	1.000	N	0.205	N	1.43	T	-1.039	T	0.019	T	0.09	0.665	7.563	-2.72	-0.661	-0.915	1.595	0.015	.	0.0068	0.00519169	0.0065	0.0015	0.0055	0.0001	0.0079	0.0088	0.0100	0.0035	0.0066752	1032	154602	rs45550039	0.0077	0.0077	0.0077	0.0076	0.0199	0.0076	0.0075	0.0169	0.0158	0.0017	0.0070	0.0065	2.519e-05	0.0083	0.0199	0.0085	0.0075	0.0030	0.0058	0.0058	0.0062	0.0054	0.0082	0.0055	0.0054	0.0074	0.0072	0.0013	0	0.0082	0.0072	0.0002	0.0103	0.0068	0.0079	0.0066	0.0029	0.129	0.27904	T	0.127	0.35455	T	0.036	0.20732	B	0.011	0.15521	B	0.234282	0.03539	N	1.544550	1	0.08975	N	1.375	0.34280	L	1.43	0.32958	T	-2.0	0.46503	N	0.107	0.13055	-1.0391	0.17587	T	0.019	0.07986	T	10	0.0032791793	0.00056	T	.	.	.	0.015	0.02232	.	.	0.604686531655	0.60152	0.10726145820988174	0.10655	0.0836533388131	0.09433	0.260488629341	0.04949	T	0.002514	0.01904	T	-0.648514	0.00074	T	-0.692646	0.06237	T	0.00118282534707189	0.00012	T	0.482752	0.14626	T	0.013942108	0.00075	0.03025895	0.01460	0.013942108	0.00075	0.03025895	0.01459	-5.684	0.44013	T	.	.	0.074	0.06341	B	.;.;.;.;.	.;.;.;.;.	-0.182056	0.03184	0.523	0.38005468494702371	0.02538	0.05762	0.11693	N	AEFBCI	0.034765	0.04364	N	-1.31496623235112	0.03503	0.1565954	-1.3568662141723	0.03725	0.1743749	0.999996869454886	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.97	-2.72	0.05616	-0.658000	0.05429	-0.483000	0.08907	-0.897000	0.02353	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4083:0.134:0.3203:0.1374	1.595	0.02502	702	0.57624	.;.;.;.;.	.	.	.	.	rs45550039	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2080.98	35	chr9	114361765	.	G	A	2080.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.13;DP=849;ExcessHet=0.0000;FS=0.651;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.41;ReadPosRankSum=0.662;SOR=0.591	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1265	20	0	1	0
chr9	114361820	114361820	C	T	exonic	AKNA	.	nonsynonymous SNV	AKNA:NM_001317952:exon8:c.G1651A:p.G551R	.	.	419	1098	5	0	0	5	0.00227169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.641	P	0.165	B	0.700	N	1.000	N	1.245	L	1.6	T	-1.050	T	0.050	T	0.097	2.059	12.84	1.26	0.132	-0.099	7.398	0.055	0.00462723713264	0.0002	.	0.0002	9.63e-05	8.637e-05	0	0	0.0001	0	0.0008	0.0001682	26	154602	rs148417221	0.0001	0.0001	0.0001	0.0002	0.0054	0.0001	0.0001	0.0039	0.0034	2.987e-05	4.472e-05	0	2.519e-05	5.666e-05	0.0054	4.676e-05	0.0004	0.0010	0.0001	0.0001	0.0002	9.414e-05	0.0006	8.171e-05	6.726e-05	0.0002	9.014e-05	7.226e-05	0	6.539e-05	0	0	0	0.0204	8.824e-05	0	0.0006	0.435	0.09401	T	0.276	0.31125	T	0.641	0.40421	P	0.165	0.35019	B	0.699689	0.06195	N	1.157220	1	0.08975	N	1.355	0.33814	L	1.6	0.28604	T	-2.2	0.49519	N	0.156	0.19459	-1.0505	0.14258	T	0.050	0.21300	T	10	0.0322344	0.01371	T	0.004627	0.11472	T	0.055	0.15663	0.108	0.01928	0.582828786496	0.57955	0.09450744218375777	0.09382	0.111268295074	0.12551	0.257472664118	0.04595	T	0.023041	0.17656	T	-0.591074	0.00165	T	-0.6998	0.05836	T	0.0279519172262206	0.01681	T	0.60064	0.22426	T	0.043137882	0.06669	0.061683755	0.11951	0.043137882	0.06669	0.061683755	0.11950	-4.11	0.27083	T	.	.	0.085	0.11941	B	.;.;.;.;.	.;.;.;.;.	0.669432	0.10379	7.104	0.97054949309366534	0.32167	0.07708	0.13711	N	AEFBCI	0.033501	0.03990	N	-0.981829052978394	0.08992	0.4237669	-1.0488745038255	0.08730	0.4306838	0.999992835559324	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.35	1.26	0.20534	-0.132000	0.10446	-1.260000	0.05881	-1.074000	0.01586	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6285:0.0:0.3715	7.398	0.26121	702	0.57624	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1039.98	35	chr9	114361820	.	C	T	1039.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.68;DP=791;ExcessHet=0.0000;FS=8.227;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=-6.330e-01;SOR=1.625	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1265	20	0	1	0
chr9	114377137	114377137	C	T	exonic	AKNA	.	nonsynonymous SNV	AKNA:NM_001317952:exon2:c.G313A:p.D105N	.	.	425	1091	6	0	0	6	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.82	P	0.299	B	0.980	N	1.000	N	0.895	L	2.53	T	-1.039	T	0.072	T	0.031	0.408	6.215	2.54	0.375	-0.524	10.934	0.062	0.0135703991053	7.7e-05	.	0.0002	0	8.655e-05	0	0	0.0001	0	0.0008	0.0001423	22	154602	rs147177737	0.0001	0.0001	9.529e-05	0.0002	0.0055	0.0001	0.0001	0.0040	0.0035	2.987e-05	4.472e-05	0	2.519e-05	5.617e-05	0.0055	4.317e-05	0.0004	0.0010	0.0001	0.0001	0.0001	8.057e-05	0.0006	6.507e-05	5.319e-05	0.0002	8.996e-05	2.405e-05	0	6.537e-05	0	0	0	0.0170	8.821e-05	0	0.0006	0.09	0.31987	T	0.068	0.49390	T	0.509	0.40421	P	0.043	0.30104	B	0.980322	0.07835	N	1.011730	1	0.08975	N	1.195	0.30194	L	2.53	0.35590	T	-0.97	0.27259	N	0.059	0.11054	-1.0393	0.17526	T	0.072	0.29323	T	10	0.033794045	0.01566	T	0.01357	0.33074	T	0.062	0.17934	.	.	0.645970908164	0.64304	0.06501192447645213	0.06440	0.0658946049038	0.07352	0.281279981136	0.07672	T	0.00246	0.01855	T	-0.623765	0.00104	T	-0.741576	0.03824	T	0.0287833781113967	0.01804	T	0.576042	0.20701	T	0.028271789	0.02139	0.023470098	0.00361	0.028271789	0.02139	0.023470098	0.00360	-4.726	0.34568	T	.	.	0.09	0.12607	B	.;.;.;.	.;.;.;.	0.284363	0.06609	3.104	0.98602502492293698	0.43520	0.10708	0.16137	N	AEFBCI	0.056814	0.10532	N	-0.686048915100832	0.16418	0.8363268	-0.777678415815288	0.15042	0.7891596	0.999856547950523	0.44174	0.744818	0.98587	0	0.702456	0.74545	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	4.49	2.54	0.29674	-0.916000	0.04138	-2.280000	0.03957	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.6004:0.3996:0.0	10.934	0.46447	721	0.55360	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1787.98	37	chr9	114377137	.	C	T	1787.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.44;DP=865;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=0.385;SOR=0.707	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1380	20	0	1	0
chr9	114406357	114406357	C	T	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1181A:p.R394H	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	0.9204	0.728	900897	not_provided|Usher_syndrome_type_2D|Autosomal_recessive_nonsyndromic_hearing_loss_31|not_specified	MedGen:C3661900|MONDO:MONDO:0012662,MedGen:C1568249,OMIM:611383,Orphanet:231178,Orphanet:886|MONDO:MONDO:0011767,MedGen:C1846839,OMIM:607084,Orphanet:90636|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.991	D	0.000	D	1.000	D	2.295	M	3.6	T	-1.059	T	0.095	T	0.826	4.570	24.8	5.29	2.485	7.165	18.935	0.726	0.0734952988052	.	.	0.0002	0	0	0.0001	0	6.091e-05	0	0.0011	0.0001488	23	154602	rs555619169	9.578e-05	9.577e-05	8.032e-05	0.0001	0.0007	8.243e-05	7.784e-05	0.0006	0.0005	2.987e-05	8.944e-05	0	0.0002	0	0.0003	4.496e-05	0.0002	0.0007	7.878e-05	7.873e-05	6.424e-05	9.399e-05	0.0010	4.493e-05	3.509e-05	0.0004	0.0003	7.218e-05	0	0	0	0	0	0	4.41e-05	0.0005	0.0010	0.0	0.91255	D	0.095	0.58613	T	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	3.6	0.11622	T	-1.86	0.43524	N	0.609	0.79503	-1.0594	0.11905	T	0.095	0.35844	T	10	0.3229587	0.49639	T	0.073495	0.71803	D	0.726	0.90369	0.298	0.26362	0.573986203122	0.57066	0.45742748042426795	0.45660	0.637802476307	0.57518	0.665286183357	0.62165	T	0.235901	0.60326	T	-0.150902	0.28171	T	-0.0623411	0.66168	T	0.336134612560272	0.26470	T	0.882612	0.60317	D	0.21653922	0.44114	0.19265828	0.42792	0.22320576	0.44937	0.15937477	0.37171	-5.365	0.40785	T	.	.	0.256	0.50609	B	.;.;.	.;.;.	5.520667	0.91775	32	0.99959000500834505	0.99990	0.94106	0.60130	D	AEFDBCI	0.886241	0.81746	D	0.747605229152307	0.82746	7.839989	0.69043656249513	0.81653	7.577103	0.999999999999999	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	7.283000	0.78001	4.838000	0.45259	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.505000	0.29129	0.0:1.0:0.0:0.0	18.935	0.92554	627	0.65350	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1718.98	34	chr9	114406357	.	C	T	1718.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.360e-01;DP=1637;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.99;ReadPosRankSum=0.163;SOR=0.694	GT:AD:DP:GQ:PL	0/0:108,0:108:99:0,120,1800	20	0	1	0
chr9	114406374	114406374	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1164C:p.R388S	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.956	D	0.000	D	1.000	D	2.295	M	3.72	T	-1.147	T	0.071	T	0.888	2.729	15.09	4.38	2.485	0.438	9.668	0.246	0.0237251287023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.249	0.34959	T	0.996	0.68779	D	0.956	0.69739	D	0.000003	0.62929	D	0.058524	0.999998	0.58761	D	2.485	0.72352	M	3.72	0.11082	T	-1.76	0.41618	N	0.794	0.79022	-1.1467	0.01127	T	0.071	0.28969	T	10	0.7061209	0.72749	D	0.023725	0.46702	T	0.246	0.55340	0.267	0.21418	0.465381546717	0.46164	0.546202977391294	0.54546	0.217767607061	0.24300	0.665198624134	0.62152	T	0.178877	0.52967	T	0.156707	0.69894	D	-0.0126771	0.69508	D	0.965095579624176	0.67160	D	0.918408	0.70674	D	0.43276304	0.62933	0.30041197	0.56075	0.43276304	0.62933	0.30041197	0.56074	-3.765	0.20655	T	.	.	0.861	0.82156	P	.;.;.	.;.;.	4.122777	0.61634	24.4	0.99728939135831174	0.82619	0.85209	0.44322	D	AEFDBI	0.404361	0.47768	N	0.490746823562894	0.66546	4.964436	0.418910173237003	0.62744	4.495032	0.999998553595518	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	4.38	0.52019	0.480000	0.21954	1.068000	0.23780	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.662000	0.33024	0.0:0.8454:0.0:0.1546	9.668	0.39158	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.3529	5368.01	152	chr9	114406374	.	C	G	5368.01	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-2.027e+00;DP=4227;ExcessHet=9.6308;FS=138.874;InbreedingCoeff=-0.5312;MLEAC=14;MLEAF=0.412;MQ=60.00;MQRankSum=0.00;QD=2.25;ReadPosRankSum=0.063;SOR=12.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:187,39:226:99:.:.:142,0,5971	5	0	12	4
chr9	114406375	114406375	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1163C:p.R388T	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.982	D	0.000	D	1.000	D	2.295	M	3.67	T	-1.010	T	0.111	T	0.82	3.969	20.3	5.29	2.485	5.391	18.935	0.328	0.0327677642762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.025	0.63918	D	1.0	0.90584	D	0.982	0.75477	D	0.000003	0.62929	D	0.058524	1	0.81001	D	2.485	0.72352	M	3.67	0.11947	T	-1.91	0.45042	N	0.816	0.81162	-1.0102	0.26854	T	0.111	0.39817	T	10	0.7625818	0.76459	D	0.032768	0.54504	D	0.328	0.65026	0.301	0.26843	0.629257994256	0.62622	0.515018125573271	0.51424	0.317085791368	0.33956	0.693475842476	0.66205	T	0.250673	0.62080	T	0.0954069	0.63792	D	-0.100731	0.63342	T	0.93917840719223	0.61041	D	0.923508	0.72088	D	0.42132396	0.62180	0.29035416	0.55058	0.42132396	0.62180	0.29035416	0.55057	-4.136	0.26316	T	.	.	0.663	0.73938	P	.;.;.	.;.;.	4.986942	0.82651	27.8	0.98226065711499799	0.39343	0.97842	0.77538	D	AEFDBI	0.694202	0.65328	D	0.672510807959941	0.77831	6.75116	0.61009073618077	0.75672	6.352084	0.999999999999999	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	5.29	0.74430	5.501000	0.66665	7.602000	0.61596	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.667000	0.33166	0.0:1.0:0.0:0.0	18.935	0.92554	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.2632	4474.23	143	chr9	114406375	.	C	G	4474.23	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-4.573e+00;DP=3997;ExcessHet=6.1002;FS=130.641;InbreedingCoeff=-0.3565;MLEAC=11;MLEAF=0.289;MQ=60.00;MQRankSum=0.00;QD=2.30;ReadPosRankSum=0.216;SOR=12.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:151,0:151:99:.:.:0,120,1800	9	0	10	2
chr9	114423486	114423486	G	A	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon3:c.C401T:p.P134L	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	0	1515	7	0	0	7	0.00230491	.	.	54819	not_provided|not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_31|Usher_syndrome_type_2D	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011767,MedGen:C1846839,OMIM:607084,Orphanet:90636|MONDO:MONDO:0012662,MedGen:C1568249,OMIM:611383,Orphanet:231178,Orphanet:886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.15	T	1.0	D	0.982	D	0.000	N	1.000	D	2.25	M	3.73	T	-1.129	T	0.058	T	0.544	4.916	28.4	4.41	1.247	8.960	13.759	0.244	.	0.0028	0.00199681	0.0034	0.0011	0.0008	0.0001	0.0178	0.0032	0.0088	0.0031	0.0030983	479	154602	rs79572315	0.0031	0.0031	0.0031	0.0031	0.0036	0.0030	0.0030	0.0033	0.0032	0.0013	0.0007	3.829e-05	0.0001	0.0166	0.0026	0.0027	0.0031	0.0036	0.0035	0.0035	0.0026	0.0046	0.0024	0.0033	0.0032	0.0021	0.0020	0.0015	0	0.0009	0	0.0006	0.0265	0	0.0024	0.0014	0.0021	0.009	0.63226	D	0.196	0.36365	T	0.997	0.77913	D	0.974	0.73157	D	0.000001	0.62929	N	0.058329	1	0.81001	D	2.67	0.78151	M	3.73	0.10674	T	-5.16	0.83422	D	0.765	0.76296	-1.1289	0.01836	T	0.058	0.24204	T	10	0.008380979	0.00190	T	.	.	.	0.244	0.55061	.	.	0.522928537951	0.51938	0.5321338413449586	0.53138	0.506194394545	0.48837	0.606746792793	0.53856	T	0.515533	0.82957	D	-0.379909	0.03120	T	-0.32154	0.42405	T	0.0214574827305478	0.00849	T	0.918008	0.75346	D	0.36924544	0.58529	0.29008386	0.55031	0.32678905	0.55206	0.26182386	0.51965	-9.459	0.75811	D	.	.	0.140	0.34840	B	.;.;.	.;.;.	5.500997	0.91587	32	0.99868317066776546	0.94637	0.98118	0.79751	D	AEFDBI	0.855583	0.77271	D	0.692525358861219	0.79144	7.015778	0.651573562423459	0.78729	6.934922	0.999999996252282	0.74766	0.626454	0.40138	0	0.670034	0.63936	0	0.80507	0.99327	0	0.616125	0.45549	0	.	.	5.3	4.41	0.52588	9.083000	0.93460	9.782000	0.81603	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0739:0.0:0.9261:0.0	13.759	0.62441	702	0.57624	.;.;.	.	.	.	.	rs79572315	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1972.98	39	chr9	114423486	.	G	A	1972.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.28;ReadPosRankSum=1.33;SOR=0.730	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1174	20	0	1	0
chr9	115063967	115063967	T	C	exonic	TNC	.	nonsynonymous SNV	TNC:NM_002160:exon12:c.A3589G:p.I1197V,	Deafness, autosomal dominant 56, Autosomal dominant	.	410	1102	9	1	0	11	0.00496614	.	.	751350	TNC-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.55	T	0.782	P	0.609	P	0.000	D	1.000	D	1.61	L	0.71	T	-0.986	T	0.154	T	0.424	1.131	9.610	4.64	2.239	2.155	12.650	0.093	0.00893537600478	.	0.000199681	0.0005	0	0	0	0	0.0002	0	0.0025	0.0003752	58	154602	rs138416542	0.0003	0.0003	0.0002	0.0003	0.0025	0.0002	0.0002	0.0022	0.0021	0	0	0.0004	0	0	0.0023	0.0001	0.0004	0.0025	0.0002	0.0002	0.0001	0.0003	0.0031	0.0001	0.0001	0.0019	0.0015	0	0	0	0	0	0	0	0.0002	0	0.0031	0.624	0.06935	T	0.358	0.44302	T	0.782	0.44333	P	0.609	0.51053	P	0.000449	0.44317	D	0.142982	1	0.81001	D	1.795	0.47270	L	0.71	0.51228	T	0.0	0.09796	N	0.48	0.52119	-0.9858	0.33639	T	0.154	0.48412	T	10	0.016422302	0.00346	T	0.008935	0.23535	T	0.093	0.26882	.	.	0.70889124218	0.70635	0.46178433276570047	0.46096	0.445351969728	0.44427	0.46960735321	0.34625	T	0.074316	0.34910	T	-0.41183	0.01933	T	-0.371126	0.36758	T	0.063524616230576	0.07711	T	0.875712	0.69569	D	0.095316626	0.22428	0.06699307	0.13798	0.095316626	0.22428	0.06699307	0.13798	-5.301	0.39953	T	.	.	0.215	0.45653	B	.;.;.	.;.;.	3.124604	0.42199	21.5	0.97144751534620355	0.32560	0.86780	0.46136	D	AEFDBCI	0.456556	0.50837	N	0.0775334449598108	0.45417	2.798505	0.200615801515195	0.49880	3.186197	0.999999965553843	0.74766	0.559995	0.30671	0	0.59043	0.45803	0	0.527494	0.11647	0	0.564101	0.26826	0	.	.	5.84	4.64	0.57399	2.168000	0.42051	5.119000	0.47573	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.2469:0.7531	12.650	0.56115	552	0.72024	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1424.98	33	chr9	115063967	.	T	C	1424.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.960e-01;DP=820;ExcessHet=0.0000;FS=0.685;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.08;ReadPosRankSum=-1.395e+00;SOR=0.619	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1217	20	0	1	0
chr9	115073777	115073777	G	A	exonic	TNC	.	nonsynonymous SNV	TNC:NM_002160:exon10:c.C3040T:p.R1014C,	Deafness, autosomal dominant 56, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.996	D	0.935	D	0.066	N	0.998	D	2.82	M	0.33	T	-0.122	T	0.422	T	0.45	3.945	20.2	4.93	2.774	2.360	16.401	0.363	0.023846580156	.	.	6.596e-05	0	8.648e-05	0	0	0.0001	0	0	5.82e-05	9	154602	rs373842890	3.694e-05	3.694e-05	3.403e-05	3.988e-05	0.0001	2.894e-05	2.592e-05	5.849e-05	3.758e-05	0.0001	6.708e-05	0	2.519e-05	0	0	3.237e-05	8.279e-05	4.638e-05	3.943e-05	3.94e-05	1.285e-05	6.727e-05	0.0002	1.716e-05	1.13e-05	2.26e-05	9.07e-06	4.826e-05	0	0.0001	0	0	0	0	1.47e-05	0	0.0002	0.028	0.51248	D	0.005	0.72224	D	0.921	0.68779	P	0.773	0.67021	P	0.065820	0.21854	N	0.529841	0.998034	0.44438	D	2.97	0.85306	M	0.33	0.58323	T	-3.37	0.75456	D	0.321	0.46180	-0.1222	0.79583	T	0.422	0.76704	T	10	0.5339922	0.63343	D	0.023847	0.46827	T	0.363	0.68319	0.758	0.88730	0.826535943218	0.82489	0.6244939248117493	0.62382	0.699871661359	0.61068	0.184326082468	0.00140	T	0.414033	0.76771	T	-0.153893	0.27706	T	-0.261862	0.48638	T	0.626159071922302	0.37459	D	0.983402	0.94400	D	0.46928665	0.65246	0.26494125	0.52321	0.46928665	0.65247	0.26494125	0.52320	-9.256	0.81331	D	0.3304546810669847	0.42849	0.195	0.41663	B	.;.;.;.;.;.	.;.;.;.;.;.	5.262030	0.88351	29.6	0.99941176730608661	0.99797	0.89580	0.50135	D	AEFBI	0.519615	0.54482	D	0.693955542118845	0.79237	7.035393	0.664248350480558	0.79674	7.132983	0.999943396304904	0.47345	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.85	4.93	0.64394	1.413000	0.34333	7.501000	0.59489	0.676000	0.76740	0.896000	0.31333	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8679:0.1321	16.401	0.83479	551	0.72115	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1656.98	34	chr9	115073777	.	G	A	1656.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.06;DP=945;ExcessHet=0.0000;FS=5.057;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=-2.700e-01;SOR=1.091	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1471	20	0	1	0
chr9	116698964	116698964	C	T	exonic	TRIM32	.	nonsynonymous SNV	TRIM32:NM_001099679:exon2:c.C1222T:p.R408C	Muscular dystrophy, limb-girdle, type 2H, Autosomal recessive	.	0	1518	4	0	0	4	0.00131579	.	.	106460	Sarcotubular_myopathy|Bardet-Biedl_syndrome_11|Bardet-Biedl_syndrome|not_specified|not_provided	MONDO:MONDO:0009683,MedGen:C0270968,OMIM:254110,Orphanet:1878|MONDO:MONDO:0014439,MedGen:C1859569,OMIM:615988,Orphanet:110|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.996	D	0.703	P	0.000	D	1.000	D	0.695	N	-2.68	D	0.201	D	0.634	D	0.837	3.624	18.44	5.47	2.551	4.405	14.202	0.519	0.15380590215	0.0015	0.000798722	0.0014	0.0004	0.0004	0.0002	0	0.0021	0	0.0015	0.0013842	214	154602	rs3747835	0.0017	0.0017	0.0018	0.0017	0.0019	0.0017	0.0016	0.0018	0.0018	0.0004	0.0006	0.0058	0.0007	3.747e-05	0.0002	0.0019	0.0015	0.0013	0.0011	0.0011	0.0012	0.0010	0.0018	0.0010	0.0010	0.0015	0.0014	0.0003	0	0.0009	0.0040	0.0002	0	0	0.0018	0.0024	0.0012	0.001	0.78490	D	0.0	0.92824	D	0.996	0.68779	D	0.703	0.54270	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	-2.68	0.90391	D	-2.51	0.54546	D	0.721	0.72299	0.201	0.85918	D	0.634	0.87179	D	9	0.024597973	0.00682	T	0.153806	0.83502	D	0.519	0.79522	.	.	0.974609669287	0.97433	0.754966640632985	0.75443	0.91729132677	0.71283	0.771461009979	0.77643	T	0.553567	0.84927	D	0.00608991	0.52491	T	0.229187	0.84631	D	0.0537024562211095	0.06139	T	0.949105	0.80429	D	0.38659096	0.59789	0.26819614	0.52686	0.33348995	0.55755	0.22271717	0.47125	-3.536	0.16940	T	.	.	0.252	0.49383	B	.;.	.;.	5.217261	0.87555	29.3	0.99908777165075024	0.97875	0.97181	0.73167	D	AEFDBI	0.761866	0.69945	D	0.4590343015275	0.64716	4.732678	0.525650914663359	0.69722	5.401061	0.999999999494442	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	4.476000	0.59950	7.705000	0.66497	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1495:0.8505:0.0:0.0	14.202	0.65251	895	0.25842	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1764.98	34	chr9	116698964	.	C	T	1764.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.25;DP=852;ExcessHet=0.0000;FS=1.270;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=0.472;SOR=0.571	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1028	20	0	1	0
chr9	117141455	117141455	T	C	exonic	ASTN2	.	nonsynonymous SNV	ASTN2:NM_001365068:exon4:c.A1039G:p.T347A	.	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	B	0.031	B	0.001	D	1.000	D	.	.	3.0	T	-1.007	T	0.014	T	0.344	1.723	11.72	3.92	0.760	4.261	10.610	0.036	0.046346824114	0.0005	0.000599042	0.0003	9.815e-05	8.714e-05	0	0	0.0006	0.0011	0	0.000401	62	154602	rs145294644	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0005	0.0005	3.803e-05	5.364e-05	0	0	6.193e-05	0.0004	0.0005	0.0003	2.403e-05	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	7.227e-05	0	0.0002	0	0	9.436e-05	0	0.0005	0	0	0.289	0.15047	T	1.0	0.01155	T	0.01	0.15535	B	0.014	0.16862	B	0.000609	0.42945	D	0.161551	0.828244	0.81001	D	-0.205	0.04094	N	3.0	0.10674	T	0.15	0.05310	N	0.722	0.72388	-1.0068	0.27912	T	0.014	0.05608	T	8	0.013021231	0.00278	T	0.046347	0.62414	D	0.036	0.09122	.	.	0.043077524339	0.03247	.	.	.	.	.	.	.	0.015416	0.12934	T	-0.487414	0.00671	T	-0.49754	0.22603	T	0.0420679653765567	0.04068	T	0.654235	0.26451	T	0.064749636	0.13768	0.05848351	0.10815	0.064749636	0.13767	0.05848351	0.10814	-2.83	0.08463	T	.	.	0.170	0.37426	B	.;.	.;.	3.056098	0.41027	21.3	0.93499883910775394	0.23306	0.88432	0.48357	D	AEFI	0.595651	0.59012	D	-0.166837848834321	0.34521	1.971382	-0.0264124213854862	0.38525	2.271045	0.209845066295985	0.18225	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.06	3.92	0.44525	3.967000	0.56509	6.529000	0.55853	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.1791:0.8209	10.610	0.44609	824	0.40336	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1992.98	34	chr9	117141455	.	T	C	1992.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=990;ExcessHet=0.0000;FS=1.157;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=-1.143e+00;SOR=0.803	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1287	20	0	1	0
chr9	117708606	117708606	A	G	exonic	TLR4	.	nonsynonymous SNV	TLR4:NM_138554:exon2:c.A137G:p.Y46C	.	.	427	1094	1	0	0	1	0.00045683	.	.	3409346	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.98	D	0.645	P	0.209	N	0.998	N	1.1	L	1.49	T	-1.058	T	0.059	T	0.547	3.385	17.42	-0.28	0.117	0.579	6.036	0.117	0.00972881148276	0.0025	0.000998403	0.0026	0.0011	0.0009	0	0.0011	0.0041	0.0011	0.0007	0.0025808	399	154602	rs78848399	0.0032	0.0032	0.0033	0.0031	0.0038	0.0031	0.0031	0.0037	0.0037	0.0006	0.0017	0	5.039e-05	0.0011	0.0010	0.0038	0.0035	0.0008	0.0022	0.0022	0.0024	0.0020	0.0038	0.0020	0.0019	0.0034	0.0033	0.0010	0	0.0010	0.0003	0	0.0007	0	0.0038	0.0014	0.0008	0.047	0.40832	D	0.115	0.37173	T	0.98	0.59353	D	0.645	0.52270	P	0.208553	0.16422	N	0.602475	0.999725	0.22124	N	2.48	0.72069	M	1.49	0.38073	T	-1.8	0.42384	N	0.26	0.41261	-1.0580	0.12260	T	0.059	0.24612	T	10	0.0075338185	0.00171	T	0.009729	0.25404	T	0.117	0.32689	.	.	0.853307037547	0.85189	0.41613344991707496	0.41529	0.378567919258	0.39267	0.378068983555	0.21981	T	0.213883	0.57533	T	-0.394072	0.02532	T	-0.338018	0.40568	T	0.0258504383559337	0.01386	T	0.927707	0.73631	D	0.5985571	0.72614	0.22560845	0.47511	0.5985571	0.72615	0.22560845	0.47510	-4.198	0.44505	T	.	.	0.068	0.08657	B	.;.;.	.;.;.	2.702470	0.35308	19.86	0.99612778265016411	0.74932	0.42813	0.26961	N	AEFDBI	0.106400	0.21230	N	-0.00181050551202143	0.41774	2.504711	-0.048482199225557	0.37557	2.200554	0.999583099376845	0.40607	0.722319	0.85440	0	0.573888	0.26702	0	0.618467	0.43123	0	0.735409	0.98432	0	.	.	5.51	-0.28	0.12248	0.557000	0.23159	0.767000	0.21364	0.756000	0.94297	0.798000	0.29695	0.009000	0.19889	0.998000	0.85391	0.3261:0.406:0.2679:0.0	6.036	0.18932	907	0.22727	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2139.98	34	chr9	117708606	.	A	G	2139.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.52;DP=858;ExcessHet=0.0000;FS=2.759;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=0.420;SOR=0.486	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1255	20	0	1	0
chr9	117714331	117714331	G	A	exonic	TLR4	.	nonsynonymous SNV	TLR4:NM_138557:exon2:c.G1603A:p.V535I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.962	D	0.912	D	0.000	D	0.682	D	0.565	N	2.92	T	-1.013	T	0.046	T	0.405	3.984	20.4	5.13	1.544	5.277	16.743	0.197	0.00849720499261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.912e-07	6.84e-07	1.369e-06	0	9.09e-07	0	0	.	.	0	0	0	0	0	0	9.09e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.61437	D	0.104	0.38891	T	0.962	0.55554	D	0.912	0.64797	D	0.000258	0.46924	D	0.093034	0.682196	0.33244	D	0.82	0.20857	L	2.92	0.09915	T	-0.41	0.14000	N	0.296	0.33469	-1.0133	0.25880	T	0.046	0.19599	T	10	0.41621298	0.56559	T	0.008497	0.22482	T	0.197	0.47942	0.709	0.84509	0.727753208188	0.72534	0.3091798018695171	0.30830	0.428412430715	0.43159	0.39957228303	0.25009	T	0.082176	0.36767	T	-0.12981	0.31527	T	-0.424239	0.30591	T	0.912847757339478	0.56890	D	0.963204	0.86318	D	0.24629544	0.47597	0.15992631	0.37274	0.24629544	0.47597	0.15992631	0.37273	-3.17	0.12117	T	.	.	0.216	0.44514	B	.;.;.	.;.;.	4.162275	0.62513	24.5	0.99850321522070484	0.93013	0.86674	0.46005	D	AEFDBHCI	0.518997	0.54446	D	0.419329376609052	0.62484	4.465227	0.446967250483448	0.64523	4.709328	0.999999946917396	0.74766	0.645754	0.44609	0	0.615948	0.52940	0	0.615948	0.41167	0	0.723	0.93126	0	.	.	6.03	5.13	0.69729	5.723000	0.68141	11.819000	0.97178	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:0.0:0.8697:0.1303	16.743	0.85324	905	0.23532	.;Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain;Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1242.98	34	chr9	117714331	.	G	A	1242.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.590e-01;DP=792;ExcessHet=0.0000;FS=4.692;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.80;ReadPosRankSum=0.136;SOR=1.264	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr9	119208718	119208718	C	G	splicing	BRINP1	NM_014618:exon7:c.1145+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.184	21.7	5.62	2.633	7.487	18.649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.131e-05	0.0003	2.326e-05	1.933e-05	3e-05	1.527e-05	1.33e-05	1.754e-05	1.51e-05	3e-05	0	3.834e-05	0	0	0	2.529e-05	1.664e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.440698	0.92054	D	0.395255	0.91956	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.179251	0.94736	34	0.99491738618907188	0.67516	0.99210	0.92855	D	AEFBI	.	.	.	1.19648723870925	0.99517	23.388	1.05549675341639	0.99442	22.75559	0.999999999988067	0.74766	0.115753	0.02995	0	0.063388	0.01293	0	0.17184	0.04098	0	0.057018	0.00518	0	0.98647	0.94587	5.62	5.62	0.85714	7.568000	0.81546	7.673000	0.64890	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.0:1.0:0.0:0.0	18.649	0.91383	614	0.66605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	83.09	37	chr9	119208718	.	C	G	83.09	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.621e+00;DP=1029;ExcessHet=0.0000;FS=226.626;InbreedingCoeff=-0.0313;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.91;ReadPosRankSum=1.14;SOR=9.065	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:61,0:61:75:.:.:0,75,1668	20	0	1	0
chr9	120409136	120409136	T	A	exonic	CDK5RAP2	.	nonsynonymous SNV	CDK5RAP2:NM_001272039:exon27:c.A3905T:p.E1302V	Microcephaly 3, primary, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.989	D	0.836	P	0.127	N	0.980	N	1.845	L	1.3	T	-0.947	T	0.156	T	0.436	3.092	16.33	4.03	0.899	4.130	11.073	0.157	0.0308713536964	.	.	0.0002	0	0	0	0	0	0	0.0013	0.0001423	22	154602	rs367613839	9.113e-05	9.098e-05	5.727e-05	0.0001	0.0015	7.836e-05	7.317e-05	0.0013	0.0012	0	0	0	0	0	0.0002	0	4.98e-05	0.0015	3.938e-05	3.937e-05	3.853e-05	4.027e-05	0.0010	1.714e-05	1.128e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.47e-05	0	0.0010	0.002	0.78490	D	0.002	0.79402	D	0.931	0.62824	P	0.36	0.59919	B	0.127274	0.18774	N	0.478744	0.979545	0.25174	N	2.545	0.74286	M	3.79	0.35590	T	-4.53	0.88148	D	0.598	0.61680	-0.9470	0.41481	T	0.156	0.48755	T	10	0.04211819	0.02930	T	0.030871	0.53083	D	0.157	0.40909	0.171	0.07655	0.446310458034	0.44255	0.16517922051152617	0.16437	0.442571893337	0.44215	0.312757462263	0.12324	T	0.710288	0.91731	D	-0.352661	0.04562	T	-0.314728	0.43150	T	0.220562307665432	0.21492	T	0.850115	0.53348	D	0.26502582	0.49571	0.31381452	0.57377	0.24666592	0.47637	0.3053895	0.56565	-6.79	0.52485	T	.	.	0.186	0.41947	B	.;.;.;.;.	.;.;.;.;.	4.568992	0.72067	25.8	0.9892255418075957	0.48583	0.98182	0.80315	D	AEFDGBI	0.252470	0.37215	N	0.158811245359375	0.49231	3.125721	0.0794874384440623	0.43519	2.651936	0.999999726402155	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.2	4.03	0.46115	4.332000	0.59063	1.556000	0.27325	0.609000	0.47794	0.994000	0.38300	0.014000	0.20376	0.221000	0.22489	0.0:0.0:0.1555:0.8445	11.073	0.47235	912	0.21483	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	981.98	28	chr9	120409136	.	T	A	981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.601e+00;DP=652;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.95;ReadPosRankSum=0.392;SOR=0.511	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,25:41:99:0|1:120409136_T_A:996,0,561:120409136	20	0	1	0
chr9	120409137	120409137	C	T	exonic	CDK5RAP2	.	nonsynonymous SNV	CDK5RAP2:NM_001272039:exon27:c.G3904A:p.E1302K	Microcephaly 3, primary, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.86	P	0.352	B	0.127	N	0.993	N	1.155	L	1.39	T	-1.071	T	0.070	T	0.291	2.268	13.54	3.29	0.655	1.248	9.194	0.021	0.0164506841988	.	.	0.0002	0	0	0	0	0	0	0.0013	0.0001423	22	154602	rs750622631	9.113e-05	9.098e-05	5.727e-05	0.0001	0.0015	7.836e-05	7.317e-05	0.0013	0.0012	0	0	0	0	0	0.0002	0	4.98e-05	0.0015	3.937e-05	3.937e-05	3.853e-05	4.026e-05	0.0010	1.714e-05	1.128e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.47e-05	0	0.0010	0.213	0.33254	T	0.068	0.45318	T	0.192	0.47373	B	0.031	0.42883	B	0.127274	0.18774	N	0.478744	0.992983	0.23791	N	0.755	0.19153	N	4.01	0.33842	T	-1.95	0.57599	N	0.255	0.28849	-1.0710	0.09194	T	0.070	0.28609	T	10	0.022916853	0.00585	T	0.016451	0.37712	T	0.021	0.04004	0.247	0.18293	0.268211541103	0.26431	0.12736698950286374	0.12662	0.407279978005	0.41592	0.351603031158	0.18158	T	0.232798	0.59944	T	-0.482061	0.00719	T	-0.500602	0.22284	T	0.0768562844321291	0.09580	T	0.848015	0.52922	T	0.058201026	0.11680	0.08167205	0.18579	0.057275485	0.11378	0.09163998	0.21555	-4.887	0.35589	T	.	.	0.127	0.32445	B	.;.;.;.;.	.;.;.;.;.	2.370549	0.30420	18.43	0.99754215826313497	0.84537	0.89417	0.49869	D	AEFDGBI	0.078854	0.15917	N	-0.414516023389647	0.24959	1.351482	-0.402356001812849	0.24928	1.367878	0.999999058602882	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.2	3.29	0.36801	0.996000	0.29320	0.727000	0.21057	-0.242000	0.07441	0.534000	0.27220	0.003000	0.18671	0.177000	0.21203	0.0:0.7754:0.1462:0.0783	9.194	0.36375	912	0.21483	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	981.98	28	chr9	120409137	.	C	T	981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.153;DP=655;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.95;ReadPosRankSum=0.642;SOR=0.511	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,25:41:99:0|1:120409136_T_A:996,0,561:120409136	20	0	1	0
chr9	120612449	120612449	T	G	exonic	MEGF9	.	nonsynonymous SNV	MEGF9:NM_001080497:exon4:c.A1034C:p.E345A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.105	B	0.065	B	0.717	N	1.000	N	0.895	L	0.11	T	-1.005	T	0.108	T	0.141	1.214	9.926	-0.671	-0.052	-0.449	6.551	0.057	0.0121094395506	0.0007	0.000199681	0.0002	0.0028	8.706e-05	0	0	0	0	0	0.0001876	29	154602	rs62639984	7.322e-05	7.388e-05	8.714e-05	5.915e-05	0.0025	6.183e-05	5.743e-05	0.0020	0.0019	0.0025	0.0002	0	0	0	0.0002	7.196e-06	0.0001	0	0.0009	0.0009	0.0009	0.0009	0.0031	0.0008	0.0007	0.0026	0.0025	0.0031	0	0.0005	0	0	0	0	0	0.0005	0	0.282	0.15406	T	0.29	0.21011	T	.	.	.	.	.	.	0.717153	0.09965	N	0.865527	1	0.08975	N	1.395	0.35261	L	0.11	0.61208	T	-1.9	0.44284	N	0.159	0.16586	-1.0054	0.28337	T	0.108	0.39295	T	10	0.007642597	0.00174	T	0.012109	0.30386	T	0.057	0.16321	.	.	0.20808081866	0.20439	0.5432016079720849	0.54246	.	.	0.281569540501	0.07712	T	0.042139	0.26088	T	-0.501823	0.00559	T	-0.497914	0.22565	T	0.0125236337649379	0.00207	T	0.621038	0.23867	T	0.12841254	0.30022	0.042668834	0.05134	0.12841254	0.30021	0.042668834	0.05134	-2.945	0.09600	T	.	.	0.082	0.08802	B	.	.	1.004485	0.13833	10.38	0.92176419873347704	0.21541	0.13696	0.18001	N	ALL	0.047976	0.08137	N	-0.858349639867324	0.11844	0.5739128	-0.837011115859485	0.13599	0.7063909	0.999995624186689	0.74766	0.743674	0.98306	0	0.69481	0.67340	0	0.685742	0.62368	0	0.584449	0.35598	0	.	.	5.92	-0.671	0.10809	-0.299000	0.08291	0.044000	0.13909	0.665000	0.62972	0.000000	0.06391	0.001000	0.17328	0.996000	0.76049	0.0:0.3789:0.1332:0.4879	6.551	0.21632	879	0.29470	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1121.98	33	chr9	120612449	.	T	G	1121.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.920e-01;DP=748;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.10;ReadPosRankSum=1.30;SOR=0.667	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1138	20	0	1	0
chr9	120952846	120952846	A	C	exonic	C5	.	nonsynonymous SNV	C5:NM_001317163:exon41:c.T4942G:p.L1648V	C5 deficiency	.	1	1513	8	0	0	8	0.00263678	.	.	1479378	not_provided|Complement_component_5_deficiency|Eculizumab,_poor_response_to	MedGen:C3661900|MONDO:MONDO:0012295,MedGen:C0343047,OMIM:609536|MedGen:C3810402,OMIM:615749	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.24	T	0.175	B	0.122	B	0.530	N	1.000	N	0.69	N	0.41	T	-1.010	T	0.121	T	0.211	0.924	8.762	4.4	2.251	1.714	8.630	0.111	0.0155751972332	.	.	4.949e-05	0	0	0	0	7.504e-05	0	6.062e-05	3.88e-05	6	154602	rs762245967	5.336e-05	5.336e-05	4.22e-05	6.464e-05	0.0038	4.344e-05	4.018e-05	0.0026	0.0022	0	0.0001	0	0	0	0.0038	2.608e-05	0.0002	0.0001	8.539e-05	8.536e-05	8.991e-05	8.066e-05	0.0002	4.955e-05	3.961e-05	5.285e-05	2.835e-05	0	0	0.0002	0	0	0	0.0158	4.409e-05	0.0010	0	0.186	0.21467	T	0.066	0.44501	T	0.175	0.28858	B	0.122	0.32387	B	0.530116	0.05252	N	1.264900	0.999721	0.20581	N	1.39	0.34934	L	0.41	0.57100	T	-0.18	0.09796	N	0.119	0.10911	-1.0100	0.26917	T	0.121	0.42101	T	10	0.16003439	0.30055	T	0.015575	0.36391	T	0.111	0.31313	.	.	0.61599129918	0.61289	0.4388314610739815	0.43800	0.18889345129	0.21207	0.272657752037	0.06490	T	0.06313	0.32096	T	-0.297445	0.08903	T	-0.468064	0.25725	T	0.0453422232785388	0.04664	T	0.60384	0.22664	T	0.18121415	0.39280	0.15085992	0.35561	0.18121415	0.39280	0.15085992	0.35560	-3.595	0.17785	T	.	.	0.077	0.06341	B	.	.	2.409194	0.30961	18.60	0.93811445791229486	0.23787	0.49278	0.28397	N	AEFBI	0.298913	0.40810	N	-0.182637510536595	0.33857	1.925706	-0.0290147272602816	0.38409	2.262579	0.999982084323757	0.51787	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	5.56	4.4	0.52402	1.824000	0.38710	5.854000	0.50366	0.756000	0.94297	0.791000	0.29607	1.000000	0.68203	0.945000	0.48827	0.9096:0.0:0.0904:0.0	8.630	0.33076	942	0.12992	Netrin module, non-TIMP type|Netrin domain|Netrin module, non-TIMP type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1272.98	34	chr9	120952846	.	A	C	1272.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.865e+00;DP=810;ExcessHet=0.0000;FS=1.559;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=0.580;SOR=0.875	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1272	20	0	1	0
chr9	121000045	121000045	C	A	exonic	C5	.	nonsynonymous SNV	C5:NM_001317164:exon21:c.G2569T:p.A857S,	C5 deficiency	.	505	1015	2	0	0	2	0.000984252	.	.	2840709	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0	0	0	0	.	0	0	0	0.000207	32	154602	rs139479771	0.0046	0.0020	0.0050	0.0042	0.0066	0.0042	0.0040	0.0060	0.0058	0.0021	0.0058	0.0015	0	0.0022	0.0021	0.0066	0.0047	0.0001	0.0049	0.0047	0.0052	0.0046	0.0079	0.0046	0.0045	0.0073	0.0071	0.0016	0.0011	0.0050	0.0047	0	0.0012	0.0035	0.0079	0.0070	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	200.03	19	chr9	121000045	.	C	A	200.03	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.995;DP=310;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0275;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.39;ReadPosRankSum=-4.130e-01;SOR=0.446	GT:AD:DP:GQ:PL	0/0:14,0:14:42:0,42,381	20	0	1	0
chr9	121074833	121074833	G	A	exonic	C5	.	nonsynonymous SNV	C5:NM_001317163:exon1:c.C4T:p.P2S,	C5 deficiency	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	.	.	.	.	.	.	.	.	.	.	.	.	-0.878	T	0.123	T	.	1.039	9.245	-0.029	-0.130	-1.626	5.367	0.007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs887105125	4.607e-05	2.226e-05	3.057e-05	5.78e-05	8.808e-05	2.771e-05	2.188e-05	5.302e-05	4.188e-05	0	0	0	0	0	0	8.808e-05	0	0	4.598e-05	4.596e-05	0	9.412e-05	0.0001	2.109e-05	1.526e-05	4.764e-05	3.338e-05	0	0	0	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2442.98	33	chr9	121074833	.	G	A	2442.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.608;DP=940;ExcessHet=0.0000;FS=1.207;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=-8.040e-01;SOR=0.826	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr9	121142260	121142260	T	C	exonic	CNTRL	.	nonsynonymous SNV	CNTRL:NM_001330762:exon8:c.T1205C:p.L402S	.	.	435	1067	20	0	0	20	0.00928505	.	.	711740	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.21	T	0.963	D	0.744	P	.	.	1.000	N	0.895	L	2.55	T	-1.080	T	0.034	T	0.292	3.849	19.55	5.49	2.086	3.826	14.757	0.077	.	0.0081	0.00499201	0.0083	0.0017	0.0063	0	0.0027	0.0108	0.0145	0.0100	0.0080594	1246	154602	rs148672807	0.0093	0.0093	0.0091	0.0095	0.0107	0.0092	0.0091	0.0102	0.0101	0.0012	0.0079	0.0032	2.527e-05	0.0023	0.0101	0.0103	0.0089	0.0107	0.0068	0.0068	0.0069	0.0067	0.0115	0.0064	0.0063	0.0099	0.0096	0.0021	0.0011	0.0088	0.0014	0.0002	0.0011	0.0068	0.0105	0.0076	0.0115	0.054	0.63226	T	0.015	0.72224	D	0.937	0.52445	P	0.559	0.49531	P	.	.	.	.	0.950942	0.37717	D	2.255	0.64187	M	2.55	0.13795	T	-0.87	0.43149	N	0.719	0.72120	-1.0801	0.07330	T	0.034	0.14552	T	9	0.0053949654	0.00118	T	.	.	.	0.077	0.22490	.	.	0.245101548738	0.24120	0.36758582996909256	0.36672	0.367394151013	0.38298	0.546920776367	0.45423	T	0.033155	0.25247	T	-0.489914	0.00650	T	-0.464828	0.26076	T	0.0206042897419058	0.00760	T	0.844715	0.53011	T	0.15042207	0.34244	0.18568857	0.41697	0.15042207	0.34243	0.18568857	0.41696	-5.843	0.50410	T	.	.	0.385	0.60351	A	.;.;.;.	.;.;.;.	4.257450	0.64674	24.7	0.99843809904993919	0.92403	0.95716	0.65851	D	AEFDGBI	0.392790	0.47069	N	0.362254186256515	0.59389	4.117966	0.425665204364704	0.63168	4.545375	0.999999990792229	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.49	5.49	0.81022	3.828000	0.55453	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:0.0:1.0	14.757	0.69189	964	0.07719	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	835.11	19	chr9	121142260	.	T	C	835.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.06;DP=581;ExcessHet=0.1072;FS=6.483;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.40;ReadPosRankSum=1.15;SOR=0.207	GT:AD:DP:GQ:PL	0/0:22,0:22:60:0,60,900	19	0	2	0
chr9	121154767	121154767	A	G	exonic	CNTRL	.	nonsynonymous SNV	CNTRL:NM_001330762:exon16:c.A2563G:p.I855V	.	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.048	B	0.015	B	.	.	1.000	N	1.5	L	2.57	T	-0.884	T	0.256	T	0.099	1.042	9.257	1.93	0.135	0.100	0.594	0.070	0.016134708701	0.0004	0.000399361	0.0003	0	0	0	0.0003	0.0005	0	0.0003	0.0003299	51	154602	rs149632088	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0005	0.0005	2.99e-05	0.0001	0	0	7.489e-05	0	0.0005	0.0004	0.0002	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	7.217e-05	0	0.0002	0	0.0002	0	0	0.0005	0	0.0004	0.384	0.11696	T	0.755	0.12597	T	0.048	0.22112	B	0.015	0.17295	B	.	.	.	.	0.995855	0.24499	N	2.44	0.70756	M	2.57	0.77336	T	-0.22	0.10480	N	0.074	0.11483	-0.8844	0.49406	T	0.256	0.62654	T	9	0.01641056	0.00346	T	0.016135	0.37248	T	0.070	0.20419	.	.	0.39208347742	0.38818	0.022881110831130678	0.02240	0.0431747379914	0.04650	0.375946044922	0.21681	T	0.014213	0.14377	T	-0.389535	0.02709	T	-0.430874	0.29837	T	0.0413374544269704	0.03932	T	0.694431	0.32279	T	0.02191746	0.00821	0.04584212	0.06257	0.02191746	0.00821	0.04584212	0.06256	-2.984	0.10332	T	.	.	0.084	0.10739	B	.;.;.;.;.	.;.;.;.;.	1.458455	0.18805	13.93	0.81589166948577285	0.13760	0.70482	0.34609	D	AEFGBHCI	0.103306	0.20700	N	-0.522625825162849	0.21349	1.132375	-0.393116978087858	0.25201	1.384498	0.99999999997078	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.58	1.93	0.24985	0.057000	0.14157	2.607000	0.33555	-0.050000	0.17177	0.981000	0.35396	1.000000	0.68203	0.970000	0.54328	0.3991:0.2274:0.1411:0.2325	0.594	0.00685	923	0.18507	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1085.98	42	chr9	121154767	.	A	G	1085.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.520e-01;DP=858;ExcessHet=0.0000;FS=7.363;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=2.14;SOR=0.942	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr9	121162267	121162267	A	C	exonic	CNTRL	.	nonsynonymous SNV	CNTRL:NM_001330762:exon23:c.A3763C:p.K1255Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	T	0.11	B	0.021	B	.	.	1.000	N	1.5	L	1.54	T	-1.014	T	0.071	T	0.201	2.518	14.38	4.73	1.023	3.495	12.742	0.062	0.0110820775475	.	.	.	.	.	.	.	.	.	.	.	.	.	rs779439870	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.568e-06	6.566e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.285	0.15251	T	0.249	0.23776	T	0.11	0.26188	B	0.021	0.19346	B	.	.	.	.	0.989632	0.24272	N	2.3	0.65703	M	1.54	0.36512	T	-0.17	0.20358	N	0.31	0.34981	-1.0137	0.25752	T	0.071	0.29066	T	9	0.09545648	0.17050	T	0.011082	0.28332	T	0.062	0.17934	0.109	0.01988	0.213573922156	0.20996	0.11214659497539571	0.11143	0.0677330139699	0.07574	0.352946281433	0.18354	T	0.011579	0.10309	T	-0.179702	0.23780	T	-0.495906	0.22773	T	0.270040819276287	0.23749	T	0.807119	0.45664	T	0.102846965	0.24306	0.069400564	0.14618	0.102846965	0.24306	0.069400564	0.14618	-3.244	0.13026	T	.	.	0.123	0.25914	B	.;.;.	.;.;.	2.580144	0.33455	19.34	0.97926195739583355	0.36921	0.92705	0.56344	D	AEFGBI	0.373829	0.45896	N	-0.243637403772068	0.31357	1.757491	-0.0629502897040475	0.36936	2.155953	0.999620873639164	0.41093	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.89	4.73	0.59485	3.528000	0.53279	5.351000	0.48373	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.8632:0.1368:0.0:0.0	12.742	0.56633	887	0.27948	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	617.98	34	chr9	121162267	.	A	C	617.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=662;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.45;ReadPosRankSum=1.41;SOR=0.931	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1114	20	0	1	0
chr9	121169740	121169740	A	G	exonic	CNTRL	.	nonsynonymous SNV	CNTRL:NM_001330762:exon28:c.A4544G:p.K1515R	.	.	432	1079	9	2	0	13	0.00598802	.	.	723305	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.25	T	0.008	B	0.005	B	.	.	1.000	D	1.32	L	1.65	T	-1.067	T	0.075	T	0.126	1.971	12.55	5.05	2.371	3.102	10.816	0.026	0.00891980457178	0.0035	0.00119808	0.0038	0.0009	0.0015	0.0002	0.0006	0.0054	0.0011	0.0039	0.0037257	576	154602	rs34633370	0.0046	0.0046	0.0045	0.0047	0.0049	0.0045	0.0045	0.0048	0.0048	0.0007	0.0016	0.0146	0.0001	0.0012	0.0028	0.0049	0.0047	0.0040	0.0030	0.0030	0.0033	0.0028	0.0048	0.0028	0.0027	0.0044	0.0042	0.0010	0	0.0017	0.0107	0.0004	0.0007	0	0.0048	0.0028	0.0031	0.178	0.22138	T	0.303	0.20944	T	0.008	0.14655	B	0.005	0.11217	B	.	.	.	.	0.968907	0.38692	D	2.01	0.54746	M	1.65	0.34253	T	-0.58	0.17417	N	0.204	0.25867	-1.0671	0.10062	T	0.075	0.30303	T	9	0.006384015	0.00145	T	0.00892	0.23511	T	0.026	0.05648	.	.	0.460264052551	0.45650	0.04310492153911801	0.04255	0.0456050695835	0.04953	0.406211555004	0.25932	T	0.013968	0.11978	T	-0.534578	0.00361	T	-0.539707	0.18325	T	0.0155358656303767	0.00352	T	0.776522	0.46793	T	0.060162544	0.12311	0.11686432	0.28211	0.060162544	0.12311	0.11686432	0.28210	-4.042	0.24430	T	.	.	0.084	0.13268	B	.;.;.;.	.;.;.;.	2.864805	0.37866	20.6	0.98945163002420533	0.49016	0.86827	0.46194	D	AEFGBI	0.209796	0.33575	N	-0.037459556639952	0.40165	2.380631	0.160784834484831	0.47716	2.997716	0.999992436513266	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	6.17	5.05	0.67566	3.175000	0.50556	8.063000	0.76407	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.9265:0.0:0.0735:0.0	10.816	0.45779	891	0.26808	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	676.98	34	chr9	121169740	.	A	G	676.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.810e-01;DP=763;ExcessHet=0.0000;FS=0.909;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.15;ReadPosRankSum=0.327;SOR=0.910	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1052	20	0	1	0
chr9	121302986	121302986	G	T	exonic	GSN	.	nonsynonymous SNV	GSN:NM_000177:exon3:c.G425T:p.R142L	Amyloidosis, Finnish type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3142530	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.443	B	0.112	B	0.000	D	1.000	D	0.24	N	0.67	T	-1.024	T	0.056	T	0.445	3.128	16.46	2.61	0.792	4.729	5.283	0.118	0.00975534117397	0.0002	.	4.145e-05	0	0	0	0	7.556e-05	0	0	3.23e-05	5	154602	rs138153246	2.258e-05	2.257e-05	1.634e-05	2.888e-05	0.0002	1.61e-05	1.417e-05	1.914e-05	1.661e-05	0	0	0	0	0	0.0002	2.698e-05	3.312e-05	0	4.6e-05	4.597e-05	0	9.416e-05	0.0001	2.109e-05	1.527e-05	4.764e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0	0	0.231	0.18823	T	0.275	0.22761	T	0.072	0.23997	B	0.055	0.25995	B	0.000005	0.62929	D	0.104080	0.729828	0.36775	D	0.91	0.23283	L	0.67	0.52187	T	-1.65	0.59545	N	0.508	0.57263	-1.0242	0.22344	T	0.056	0.23639	T	10	0.21495125	0.38033	T	0.009755	0.25449	T	0.118	0.32913	.	.	0.647084603319	0.64416	0.6522120701850136	0.65157	0.545019556791	0.51540	0.466607928276	0.34216	T	0.029412	0.50167	T	-0.2147	0.18721	T	-0.341627	0.40159	T	0.13834595642424	0.16131	T	0.948305	0.80045	D	0.34102046	0.56360	0.23734736	0.49030	0.34102046	0.56360	0.23734736	0.49029	-6.583	0.55989	T	.	.	0.175	0.43962	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.110138	0.61357	24.3	0.99367681651522877	0.61283	0.89612	0.50188	D	AEFBCI	0.788585	0.71803	D	-0.208077951494937	0.32803	1.853986	-0.0406058209007126	0.37899	2.225388	0.999990194072184	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.79	2.61	0.30255	3.899000	0.56000	3.853000	0.40098	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.5019:0.0:0.4981:0.0	5.283	0.14997	932	0.16191	.;Gelsolin-like domain;.;Gelsolin-like domain;Gelsolin-like domain;Gelsolin-like domain;.;Gelsolin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2523.98	34	chr9	121302986	.	G	T	2523.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=850;ExcessHet=0.0000;FS=2.140;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.72;ReadPosRankSum=1.66;SOR=0.519	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1058	20	0	1	0
chr9	121763798	121763798	C	T	exonic	DAB2IP	.	nonsynonymous SNV	DAB2IP:NM_138709:exon6:c.C1007T:p.S336L	.	.	.	.	.	.	.	.	.	.	.	723312	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.03	D	0.713	P	0.248	B	0.000	D	1.000	D	1.675	L	-1.32	T	-0.263	T	0.274	T	0.434	5.300	34	5.27	2.619	7.818	18.238	0.529	.	0.0078	0.0061901	0.0020	0.0215	0.0002	0	0	0.0001	0.0011	0	0.0019017	294	154602	rs76191175	0.0006	0.0006	0.0007	0.0006	0.0232	0.0006	0.0006	0.0218	0.0213	0.0232	0.0006	0	0	5.623e-05	0.0002	4.946e-05	0.0010	6.956e-05	0.0064	0.0064	0.0063	0.0065	0.0225	0.0061	0.0059	0.0213	0.0208	0.0225	0	0.0017	0	0	0	0	1.47e-05	0.0043	0.0004	0.034	0.48186	D	0.088	0.41573	T	.	.	.	.	.	.	0.000022	0.55875	D	0.000000	1	0.81001	D	1.61	0.41143	L	-1.32	0.79761	T	-3.44	0.67477	D	0.838	0.88687	-0.2628	0.76011	T	0.274	0.64536	T	10	0.0050864816	0.00110	T	.	.	.	0.529	0.80128	.	.	0.520477512065	0.51690	0.5354024376879282	0.53465	1.44919465983	0.86121	0.74039286375	0.73030	T	0.641892	0.89029	D	-0.259828	0.12919	T	-0.127748	0.61161	T	0.0474249126552095	0.05040	T	0.90421	0.66877	D	0.20808363	0.43034	0.20265295	0.44305	0.20808363	0.43034	0.20265295	0.44304	-7.811	0.60174	D	.	.	0.110	0.21277	B	.;.;.;.;.	.;.;.;.;.	5.241562	0.87993	29.4	0.99923238081323917	0.98917	0.98515	0.83602	D	AEFGBI	0.935156	0.92960	D	0.451892141785996	0.64310	4.682693	0.533953097190365	0.70288	5.483384	1.0	0.98316	0.744818	0.98587	0	0.610034	0.51514	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	7.905000	0.86479	7.670000	0.64725	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.766000	0.36367	0.0:1.0:0.0:0.0	18.238	0.89893	923	0.18507	.;Ras GTPase-activating domain|Ras GTPase-activating domain|Ras GTPase-activating domain;Ras GTPase-activating domain|Ras GTPase-activating domain|Ras GTPase-activating domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2509.98	38	chr9	121763798	.	C	T	2509.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.28;DP=898;ExcessHet=0.0000;FS=7.868;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.01;ReadPosRankSum=0.560;SOR=0.372	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1251	20	0	1	0
chr9	122390342	122390342	G	A	exonic	PTGS1	.	nonsynonymous SNV	PTGS1:NM_001271164:exon9:c.G1297A:p.V433I	.	.	412	1099	10	1	0	12	0.00542986	.	.	3185198	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.1	B	0.108	B	0.000	D	0.964	N	0	N	2.99	T	-1.016	T	0.012	T	0.579	2.523	14.40	4.25	0.890	7.524	9.787	0.250	.	0.0058	0.00658946	0.0076	0.0020	0.0057	0.0004	0.0068	0.0100	0.0057	0.0065	0.0073932	1143	154602	rs5794	0.0082	0.0082	0.0081	0.0082	0.0088	0.0080	0.0080	0.0086	0.0086	0.0024	0.0058	0.0118	0.0003	0.0074	0.0064	0.0088	0.0072	0.0076	0.0063	0.0063	0.0061	0.0064	0.0086	0.0060	0.0058	0.0080	0.0078	0.0025	0	0.0080	0.0081	0	0.0051	0.0136	0.0086	0.0095	0.0085	0.004	0.78490	D	0.01	0.76473	D	0.1	0.25713	B	0.108	0.31289	B	0.000066	0.52346	D	0.197844	0.963965	0.26002	N	0	0.06538	N	2.99	0.09262	T	-0.92	0.25118	N	0.225	0.25377	-1.0157	0.25110	T	0.012	0.04747	T	10	0.009871095	0.00221	T	.	.	.	0.250	0.55888	.	.	0.442363741745	0.43858	0.632608548182357	0.63194	0.271975426216	0.29707	0.484568476677	0.36686	T	0.136546	0.46898	T	-0.416541	0.01800	T	-0.360721	0.37969	T	0.0620336465735846	0.07485	T	0.873013	0.60027	D	0.2699408	0.50066	0.15628308	0.36596	0.2699408	0.50066	0.15628308	0.36595	-1.917	0.02914	T	.	.	0.105	0.24054	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.622330	0.34083	19.53	0.99004802753294774	0.50231	0.17537	0.19880	N	AEFDGBCIJ	0.092179	0.18663	N	-0.362090131955795	0.26831	1.467337	-0.184664653741837	0.32098	1.822901	0.999999998826456	0.74766	0.740787	0.97801	0	0.696367	0.67918	0	0.651303	0.49530	0	0.635259	0.50027	0	.	.	5.38	4.25	0.49658	7.512000	0.80617	8.123000	0.76630	-0.116000	0.14526	1.000000	0.71638	1.000000	0.68203	0.830000	0.39126	0.9178:0.0:0.0822:0.0	9.787	0.39849	896	0.25515	.;.;.;.;.;.;.	.	.	PTGS1	Cells_Cultured_fibroblasts	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1047.98	42	chr9	122390342	.	G	A	1047.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.081e+00;DP=779;ExcessHet=0.0000;FS=9.467;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=0.317;SOR=0.195	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1145	20	0	1	0
chr9	122477395	122477395	A	G	exonic	OR1J1	.	nonsynonymous SNV	OR1J1:NM_001004451:exon1:c.T532C:p.F178L,	.	.	.	.	.	.	.	.	.	.	.	2471355	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.984	D	0.000	D	0.880	D	2.75	M	8.52	T	-0.514	T	0.002	T	0.51	3.695	18.77	4.57	2.068	7.114	13.415	0.263	0.00607232827244	7.7e-05	.	3.311e-05	0	0	0	0	1.505e-05	0	0.0002	2.59e-05	4	154602	rs371484813	1.642e-05	1.642e-05	8.168e-06	2.475e-05	0.0003	1.111e-05	9.33e-06	7.999e-05	6.237e-05	0	0.0001	0	0	0	0.0003	3.597e-06	1.656e-05	0.0001	1.971e-05	1.97e-05	2.569e-05	1.345e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0	0	0.0010	0.0002	0.006	0.61437	D	0.001	0.83351	D	1.0	0.90584	D	0.984	0.76113	D	0.000009	0.62929	D	0.000000	0.880392	0.35739	D	2.355	0.67662	M	8.52	0.00202	T	-5.87	0.88630	D	0.366	0.40765	-0.5143	0.68128	T	0.002	0.00646	T	10	0.35234338	0.52065	T	0.006072	0.15875	T	0.263	0.57612	0.452	0.51448	0.667047117793	0.66424	0.1019801700959618	0.10129	0.172625303199	0.19432	0.321306318045	0.13619	T	0.01381	0.11878	T	-0.280588	0.10605	T	-0.381142	0.35588	T	0.946762800216675	0.62539	D	0.80432	0.45191	T	0.6377216	0.74709	0.48824376	0.70386	0.6377216	0.74711	0.48824376	0.70387	-6.317	0.48856	T	.	.	0.706	0.73214	P	.	.	4.237325	0.64219	24.7	0.99888946249513388	0.96359	0.98562	0.84121	D	AEFGBHCI	0.824762	0.74460	D	0.674058503001575	0.77931	6.77109	0.573293578381378	0.73033	5.904466	0.999999995771083	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.57	4.57	0.55860	6.178000	0.71900	1.017000	0.23376	0.684000	0.82519	1.000000	0.71638	0.001000	0.17328	0.134000	0.19723	1.0:0.0:0.0:0.0	13.415	0.60414	950	0.11238	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2182.98	43	chr9	122477395	.	A	G	2182.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.340e-01;DP=898;ExcessHet=0.0000;FS=0.635;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.17;ReadPosRankSum=-6.820e-01;SOR=0.761	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	20	0	1	0
chr9	122519217	122519228	TGTTCTTCACCC	-	exonic	OR1J4	.	nonframeshift deletion	OR1J4:NM_001004452:exon1:c.77_88del:p.F28_F31del,	.	.	424	1088	10	0	0	10	0.00457457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0.0008	0	0.0002	0	0	5.997e-05	0.0011	0.0056	0.0001921	5	26028	rs554360749	0.0004	0.0004	0.0002	0.0006	0.0069	0.0004	0.0004	0.0064	0.0062	2.987e-05	0	3.826e-05	0	0	0.0017	9.892e-06	0.0004	0.0069	0.0002	0.0002	0.0001	0.0003	0.0056	0.0001	0.0001	0.0039	0.0034	0	0	0	0	0	0	0	0	0	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4670.94	35	chr9	122519216	.	GTGTTCTTCACCC	G	4670.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=1001;ExcessHet=0.0000;FS=5.669;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.56;ReadPosRankSum=0.744;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,102,1530	20	0	1	0
chr9	122526449	122526449	A	G	exonic	OR1N1	.	nonsynonymous SNV	OR1N1:NM_012363:exon1:c.T845C:p.M282T,	.	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.366	B	0.032	B	0.001	U	0.807	N	2.3	M	1.2	T	-0.912	T	0.091	T	0.292	0.667	7.571	3.47	1.472	2.057	11.151	0.099	0.00907860615025	.	.	2.712e-05	0	0	0.0001	0	3.125e-05	0	0	1.94e-05	3	154602	rs200831920	7.219e-06	6.84e-06	8.522e-06	5.872e-06	0.0002	3.65e-06	2.66e-06	2.7e-06	1.74e-06	0	0	0	0	0	0.0002	6.499e-06	1.754e-05	1.39e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.025	0.56192	D	0.366	0.34016	B	0.032	0.22131	B	0.000901	0.41231	U	0.000000	0.80671	0.29050	N	0.455	0.12820	N	1.2	0.37405	T	-4.41	0.77391	D	0.145	0.14622	-0.9120	0.46607	T	0.091	0.34765	T	10	0.14468661	0.27455	T	0.009079	0.23893	T	0.099	0.28413	0.58	0.70604	0.362361684037	0.35846	0.2043132918052182	0.20348	0.13041232691	0.14709	0.19962105155	0.00446	T	0.008325	0.07654	T	-0.315938	0.07236	T	-0.510689	0.21244	T	0.227636575698853	0.21839	T	0.517648	0.16760	T	0.22074161	0.44637	0.4116052	0.65387	0.22074161	0.44637	0.4116052	0.65387	-5.953	0.45884	T	.	.	0.314	0.54034	B	.;.	.;.	1.928143	0.24491	16.42	0.86136936568351519	0.16337	0.36479	0.25542	N	AEFDGBI	0.107678	0.21446	N	-0.391782849741099	0.25760	1.400833	-0.463203241662368	0.23176	1.262495	0.942609550180376	0.27529	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.47	3.47	0.38831	1.253000	0.32488	2.635000	0.33717	-0.144000	0.12334	0.000000	0.06391	0.090000	0.22521	0.592000	0.31189	1.0:0.0:0.0:0.0	11.151	0.47685	894	0.26265	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1065.98	35	chr9	122526449	.	A	G	1065.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.175e+00;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.45;ReadPosRankSum=-1.292e+00;SOR=0.767	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1065	20	0	1	0
chr9	122567960	122567960	T	C	exonic	OR1L8	.	nonsynonymous SNV	OR1L8:NM_001004454:exon1:c.A518G:p.N173S,	.	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.372	B	0.34	B	0.033	N	1.000	N	2.595	M	8.46	T	-1.048	T	0.001	T	0.015	2.525	14.40	3.35	0.879	0.769	7.333	0.101	.	0.0065	0.00539137	0.0019	0.0201	0.0010	0.0007	0	4.496e-05	0	6.057e-05	0.0017658	273	154602	rs112105797	0.0006	0.0006	0.0007	0.0005	0.0214	0.0006	0.0006	0.0201	0.0196	0.0214	0.0009	0	0.0004	0	0.0005	7.014e-05	0.0013	0.0001	0.0059	0.0059	0.0056	0.0062	0.0211	0.0056	0.0055	0.0200	0.0195	0.0211	0	0.0008	0	0.0002	0	0	4.412e-05	0.0024	0	0.046	0.40573	D	0.052	0.47581	T	0.372	0.34134	B	0.34	0.42389	B	0.033176	0.24932	N	0.283555	1	0.08975	N	2.155	0.60227	M	8.46	0.00221	T	-4.15	0.75297	D	0.119	0.10911	-1.0484	0.14846	T	0.001	0.00188	T	10	0.0044124722	0.00090	T	.	.	.	0.101	0.28911	.	.	0.32714864917	0.32323	0.05195506963144553	0.05137	0.165598894335	0.18678	0.195183485746	0.00330	T	0.013899	0.11931	T	-0.71038	0.00032	T	-0.775602	0.02589	T	0.0468127200199182	0.04931	T	0.742326	0.36163	T	0.19427337	0.41170	0.21432604	0.45978	0.19427337	0.41170	0.21432604	0.45977	-5.942	0.45791	T	.	.	0.088	0.11893	B	.;.	.;.	1.461554	0.18842	13.95	0.99384820318634615	0.62068	0.14067	0.18204	N	AEFGBI	0.086079	0.17452	N	-0.369018337549987	0.26579	1.451656	-0.390711679828631	0.25272	1.388843	0.163755734964202	0.17633	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.49	3.35	0.37468	0.570000	0.23357	-5.324000	0.01761	-0.727000	0.03751	0.000000	0.06391	0.000000	0.08366	0.126000	0.19410	0.0:0.1782:0.0:0.8218	7.333	0.25766	941	0.13089	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2423.11	96	chr9	122567960	.	T	C	2423.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.689;DP=1822;ExcessHet=0.1072;FS=0.511;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=0.577;SOR=0.650	GT:AD:DP:GQ:PL	0/0:98,0:98:99:0,120,1800	19	0	2	0
chr9	122567981	122567981	C	T	exonic	OR1L8	.	nonsynonymous SNV	OR1L8:NM_001004454:exon1:c.G497A:p.R166H,	.	.	411	1110	1	0	0	1	0.000450248	.	.	2678601	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.037	B	0.036	B	0.021	N	1.000	N	1.34	L	8.63	T	-0.989	T	0.000	T	0.056	1.873	12.22	-8.98	-2.450	-1.955	5.884	0.033	0.00284720031967	.	.	1.648e-05	0	0	0	0	2.997e-05	0	0	1.94e-05	3	154602	rs373426364	2.668e-05	2.668e-05	2.178e-05	3.163e-05	0.0003	1.997e-05	1.754e-05	6.092e-05	2.521e-05	2.987e-05	2.236e-05	0	2.519e-05	0	0.0003	2.338e-05	0.0001	1.159e-05	3.289e-05	3.284e-05	1.285e-05	5.388e-05	4.41e-05	1.262e-05	7.99e-06	1.171e-05	6.25e-06	2.417e-05	0	0	0	0	9.445e-05	0	4.41e-05	0	0	0.049	0.39820	D	0.117	0.36365	T	0.037	0.20876	B	0.036	0.22909	B	0.020616	0.01536	N	2.578920	1	0.08975	N	1.36	0.34107	L	8.63	0.00155	T	-2.47	0.53898	N	0.041	0.01421	-0.9891	0.32828	T	0.000	0.00152	T	10	0.10308471	0.18931	T	0.002847	0.05986	T	0.033	0.08068	0.585	0.71245	0.117506650769	0.11410	0.14909408764596918	0.14831	0.0922132588364	0.10410	0.168194621801	0.00026	T	0.009957	0.09029	T	-0.516992	0.00458	T	-0.811271	0.01637	T	0.0671330068924307	0.08243	T	0.658834	0.26791	T	0.044203635	0.07024	0.04420983	0.05676	0.044203635	0.07023	0.04420983	0.05676	-4.887	0.35589	T	.	.	0.064	0.02370	B	.;.	.;.	-1.116216	0.00621	0.016	0.83178918993001827	0.14584	0.02945	0.07771	N	AEFGBI	0.060717	0.11559	N	-1.43794936688437	0.02313	0.1019955	-1.55948438697742	0.01911	0.08718438	0.934644011688942	0.27179	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.49	-8.98	0.00647	-3.138000	0.00648	-20.000000	0.00162	-2.004000	0.00446	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.4193:0.1963:0.0:0.3844	5.884	0.18117	941	0.13089	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1652.98	96	chr9	122567981	.	C	T	1652.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.63;DP=1820;ExcessHet=0.0000;FS=9.649;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=-7.810e-01;SOR=0.811	GT:AD:DP:GQ:PL	0/0:98,0:98:99:0,120,1800	20	0	1	0
chr9	122615284	122615284	G	A	exonic	OR1Q1	.	nonsynonymous SNV	OR1Q1:NM_012364:exon1:c.G547A:p.A183T,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.691	P	0.18	B	0.004	N	1.000	N	1.415	L	8.69	T	-0.903	T	0.000	T	0.052	2.406	14.00	3.7	0.878	0.115	15.195	0.106	.	0.0078	0.00778754	0.0023	0.0255	0.0009	0	0	5.994e-05	0	0	0.0022186	343	154602	rs116701890	0.0007	0.0007	0.0008	0.0006	0.0255	0.0007	0.0007	0.0241	0.0235	0.0255	0.0015	0	2.519e-05	3.744e-05	0.0016	4.946e-05	0.0016	2.319e-05	0.0069	0.0069	0.0076	0.0063	0.0242	0.0066	0.0064	0.0229	0.0224	0.0242	0	0.0022	0	0	0	0	0.0001	0.0033	0	0.029	0.45756	D	0.056	0.46632	T	0.691	0.41647	P	0.18	0.35854	B	0.004194	0.34013	N	0.136171	1	0.08975	N	1.075	0.27130	L	8.69	0.00119	T	-0.72	0.20358	N	0.122	0.11340	-0.9034	0.47628	T	0.000	0.00039	T	10	0.0034819841	0.00062	T	.	.	.	0.106	0.30130	.	.	0.464442853059	0.46069	0.04437467977180735	0.04381	0.218546471118	0.24393	0.172602191567	0.00043	T	0.002007	0.01413	T	-0.719337	0.00028	T	-0.78713	0.02244	T	0.033771913054266	0.02599	T	0.735226	0.35154	T	0.11180272	0.26419	0.15435165	0.36230	0.11180272	0.26419	0.15435165	0.36229	-4.747	0.33968	T	.	.	0.136	0.29477	B	.	.	2.630717	0.34205	19.56	0.99352659907747187	0.60656	0.18177	0.20151	N	AEFGI	0.129896	0.24824	N	-0.403303183776815	0.25353	1.375654	-0.367892542547356	0.25960	1.430944	0.00203499204558874	0.09104	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.57	3.7	0.41607	0.141000	0.15897	-0.419000	0.09297	-0.998000	0.01821	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5806:0.4194:0.0	15.195	0.72764	959	0.08690	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2891.98	82	chr9	122615284	.	G	A	2891.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.044e+00;DP=1803;ExcessHet=0.0000;FS=1.658;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=0.605;SOR=0.574	GT:AD:DP:GQ:PL	0/0:89,0:89:99:0,120,1800	20	0	1	0
chr9	122629374	122629374	G	T	exonic	OR1B1	.	nonsynonymous SNV	OR1B1:NM_001004450:exon1:c.C162A:p.D54E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.001	D	0.927	N	2.17	M	4.19	T	-1.144	T	0.014	T	0.088	1.837	12.10	3.51	1.191	-0.023	8.092	0.079	.	.	0.00459265	0.0025	0	8.645e-05	0.0345	0	1.499e-05	0	0.0005	0.0022898	354	154602	rs75769247	0.0007	0.0007	0.0008	0.0007	0.0235	0.0007	0.0007	0.0223	0.0217	0	2.236e-05	0.0004	0.0235	0	0.0003	4.496e-06	0.0019	0.0003	0.0012	0.0012	0.0011	0.0013	0.0315	0.0010	0.0010	0.0276	0.0261	0	0	0.0002	0.0003	0.0315	0	0	0	0.0033	0.0010	.	.	.	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.000530	0.43581	D	0.000000	0.92697	0.27156	N	1.505	0.38159	L	.	.	.	.	.	.	.	.	-1.1442	0.01209	T	0.014	0.05657	T	10	0.0051119924	0.00111	T	.	.	.	.	.	0.516	0.61611	.	.	0.06984911049996484	0.06922	.	.	0.23077185452	0.02025	T	0.007236	0.06655	T	-0.659164	0.00064	T	-0.688919	0.06451	T	0.114821114042476	0.13916	T	0.511449	0.16356	T	0.122034945	0.28685	0.22819982	0.47854	0.122034945	0.28685	0.22819982	0.47853	-6.114	0.47223	T	.	.	0.436	0.61526	A	.	.	2.609492	0.33888	19.47	0.99544033345458705	0.70711	0.37035	0.25670	N	AEFBI	0.120404	0.23457	N	0.0574355196674351	0.44486	2.721706	-0.141016013171432	0.33756	1.934278	9.06501141833649E-4	0.07987	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.41	3.51	0.39297	0.142000	0.15917	-0.065000	0.12373	0.658000	0.54486	0.000000	0.06391	0.000000	0.08366	0.258000	0.23468	0.1888:0.0:0.8112:0.0	8.092	0.29964	964	0.07719	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1282.98	84	chr9	122629374	.	G	T	1282.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.827;DP=2028;ExcessHet=0.0000;FS=1.458;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=1.60;SOR=0.564	GT:AD:DP:GQ:PL	0/0:142,0:142:99:0,120,1800	20	0	1	0
chr9	122724732	122724732	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T743C:p.V248A,	.	.	428	916	178	0	0	178	0.0885572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.002	B	0.012	B	0.119	N	1.000	N	1.045	L	8.47	T	-0.981	T	0.000	T	0.241	-0.246	2.815	3.09	0.623	0.717	7.537	0.060	0.00143063714583	.	.	6.622e-05	0	0.0002	0.0001	0.0002	6.017e-05	0	0	3.84e-05	1	26028	rs748975619	0.0001	0.0021	7.836e-05	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	9.132e-05	0.0002	7.963e-05	0.0002	4.349e-05	0.0008	0.0002	0.0003	3.688e-05	0.0002	0.0017	0.0001	0.0002	0.0005	0.0001	8.825e-05	8.643e-05	4.843e-05	0.0001	0	0.0002	0	0.0002	0.0003	0	0.0001	0	0.0005	0.066	0.36113	T	0.063	0.45110	T	0.002	0.09854	B	0.012	0.16012	B	0.119040	0.19091	N	0.433255	1	0.08975	N	2.24	0.63355	M	8.47	0.00218	T	-3.71	0.70674	D	0.163	0.17140	-0.9813	0.34701	T	0.000	0.00152	T	10	0.08632538	0.14663	T	0.001431	0.02139	T	0.060	0.17295	.	.	0.380730819819	0.37686	0.050310918284802233	0.04974	0.137390497862	0.15494	0.204048782587	0.00584	T	0.018055	0.14619	T	-0.26113	0.12768	T	-0.612872	0.11753	T	0.0930222347378731	0.11572	T	0.328467	0.06836	T	0.12669528	0.29668	0.18975647	0.42339	0.12669528	0.29667	0.18975647	0.42339	-5.477	0.41653	T	.	.	0.162	0.35767	B	.	.	1.361823	0.17710	13.32	0.37116804741921844	0.02427	0.22928	0.21909	N	AEFGBI	0.092843	0.18792	N	-1.18873539693136	0.05170	0.2350358	-1.18788360110161	0.06111	0.2931782	0.00732444700759022	0.11439	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	3.09	0.34677	0.354000	0.19885	0.254000	0.16463	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.1836:0.0:0.8164	7.537	0.26888	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4286	10749.2	301	chr9	122724732	.	T	C	10749.2	.	AC=12;AF=0.429;AN=28;BaseQRankSum=8.60;DP=6952;ExcessHet=9.6308;FS=27.314;InbreedingCoeff=-0.5849;MLEAC=15;MLEAF=0.536;MQ=58.33;MQRankSum=-1.529e+01;QD=2.73;ReadPosRankSum=-7.300e+00;SOR=4.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:322,48:370:99:0|1:122724732_T_C:928,0,13226:122724732	2	0	12	7
chr9	122724738	122724738	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T749C:p.V250A,	.	.	428	1012	82	0	0	82	0.0389364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.003	B	0.363	N	1.000	N	-0.46	N	0.93	T	-1.008	T	0.042	T	0.097	-1.802	0.009	-7.85	-1.692	-2.805	8.760	0.010	0.00138298223274	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs773750205	4.128e-06	0.0017	4.098e-06	4.158e-06	4.494e-05	1.49e-06	9.8e-07	7.45e-06	2.79e-06	2.995e-05	4.494e-05	0	2.533e-05	0	0	9.039e-07	1.665e-05	0	2.725e-05	0.0009	3.982e-05	1.4e-05	0.0002	8.37e-06	5.29e-06	.	.	2.5e-05	0	0	0	0	0.0002	0	0	0	0.0002	0.56	0.06381	T	0.334	0.18340	T	0.0	0.02946	B	0.003	0.08700	B	0.363490	0.04318	N	1.430160	1	0.08975	N	-0.355	0.03127	N	0.93	0.44065	T	0.28	0.04233	N	0.048	0.01999	-1.0082	0.27479	T	0.042	0.17994	T	10	0.027532607	0.00898	T	0.001383	0.02011	T	0.010	0.01040	.	.	0.146414634003	0.14194	0.029921180382566498	0.02941	0.133905216648	0.15082	0.228572815657	0.01864	T	0.008154	0.07505	T	-0.373075	0.03441	T	-0.773673	0.02649	T	0.0352781535904976	0.02857	T	0.0471953	0.00337	T	0.018524058	0.00374	0.028399432	0.01073	0.018524058	0.00374	0.028399432	0.01073	-3.488	0.16265	T	.	.	0.091	0.13127	B	.	.	-1.366501	0.00385	0.007	0.26517900806360473	0.01274	0.00656	0.02847	N	AEFGBI	0.051091	0.08994	N	-1.92157175688344	0.00310	0.01331125	-1.9879660246432	0.00325	0.01433726	0.679012312914238	0.22457	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	-7.85	0.01056	-3.495000	0.00503	-12.828000	0.00498	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2704:0.1842:0.5455	8.760	0.33827	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3529	6434.01	290	chr9	122724738	.	T	C	6434.01	.	AC=12;AF=0.353;AN=34;BaseQRankSum=0.102;DP=5824;ExcessHet=9.6308;FS=29.363;InbreedingCoeff=-0.5013;MLEAC=14;MLEAF=0.412;MQ=58.45;MQRankSum=-1.685e+01;QD=1.74;ReadPosRankSum=-6.376e+00;SOR=6.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:310,36:346:99:0|1:122724732_T_C:578,0,12906:122724732	5	0	12	4
chr9	122750215	122750215	G	A	exonic	OR1L6	.	nonsynonymous SNV	OR1L6:NM_001004453:exon2:c.G368A:p.R123Q,	.	.	432	1081	8	1	0	10	0.00460405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.936	P	0.401	B	0.000	D	0.997	D	2.475	M	-1.06	T	0.097	D	0.461	T	0.772	4.360	23.0	4.62	2.557	9.353	16.721	0.605	0.0293884667453	0.0003	.	0.0005	9.621e-05	0.0006	0	0	0.0007	0.0011	0.0004	0.0004722	73	154602	rs200034055	0.0005	0.0005	0.0004	0.0005	0.0033	0.0004	0.0004	0.0022	0.0018	0.0001	0.0004	0	7.557e-05	1.872e-05	0.0033	0.0005	0.0006	0.0008	0.0004	0.0004	0.0004	0.0003	0.0008	0.0003	0.0003	0.0004	0.0004	0.0001	0	0.0003	0	0.0002	0	0	0.0006	0.0009	0.0008	0.001	0.78490	D	0.001	0.83351	D	0.936	0.52359	P	0.401	0.44513	B	0.000100	0.51296	D	0.000000	0.996827	0.43441	D	3.685	0.94485	H	-1.06	0.76819	T	-3.81	0.71882	D	0.722	0.82761	0.097	0.84116	D	0.461	0.79078	T	10	0.7076005	0.72837	D	0.029388	0.51906	D	0.605	0.84452	.	.	0.861613838153	0.86027	0.4320018680132829	0.43117	0.753655960627	0.63907	0.233626097441	0.02247	T	0.184124	0.53668	T	-0.0269628	0.47858	T	0.10671	0.77354	D	0.195371025171588	0.20156	T	0.885611	0.61095	D	0.8005201	0.83938	0.6463544	0.79322	0.8005201	0.83940	0.6463544	0.79322	-8.687	0.65661	D	.	.	0.224	0.45859	B	.;.	.;.	4.182065	0.62963	24.5	0.99943250607066381	0.99848	0.99501	0.96794	D	AEFGBI	0.801412	0.72712	D	0.681461827554251	0.78419	6.867603	0.682061255970301	0.81019	7.429613	0.999999999727043	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.62	4.62	0.56946	9.697000	0.97946	2.837000	0.35056	0.563000	0.28513	1.000000	0.71638	0.198000	0.23548	0.002000	0.04165	0.0:0.0:1.0:0.0	16.721	0.85270	927	0.17636	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	5504.98	127	chr9	122750215	.	G	A	5504.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.66;DP=3245;ExcessHet=0.0000;FS=1.200;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.50;MQRankSum=-2.011e+00;QD=14.26;ReadPosRankSum=-2.188e+00;SOR=0.620	GT:AD:DP:GQ:PL	0/0:155,0:155:99:0,120,1800	20	0	1	0
chr9	122800426	122800426	A	G	exonic	OR1K1	.	nonsynonymous SNV	OR1K1:NM_080859:exon1:c.A304G:p.M102V,	.	.	411	1106	5	0	0	5	0.0022553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.243	B	0.222	B	0.007	U	1.000	N	0.96	L	7.67	T	-0.936	T	0.001	T	0.269	1.670	11.54	4.61	1.931	0.228	5.450	0.095	0.00364082266133	0.0006	0.000798722	0.0006	0.0005	0.0015	0	0	0.0007	0.0022	6.056e-05	0.0005498	85	154602	rs144618703	0.0005	0.0005	0.0005	0.0005	0.0078	0.0005	0.0005	0.0060	0.0054	0.0002	0.0015	0.0009	0	1.906e-05	0.0078	0.0005	0.0010	0.0002	0.0005	0.0005	0.0005	0.0005	0.0011	0.0004	0.0004	0.0007	0.0006	0.0003	0	0.0011	0.0012	0	0	0.0034	0.0006	0.0014	0.0002	0.05	0.39575	D	0.147	0.32783	T	0.243	0.30970	B	0.222	0.37884	B	0.006756	0.31824	U	0.142257	0.999931	0.19363	N	1.27	0.32069	L	7.67	0.00348	T	-2.78	0.58896	D	0.153	0.15749	-0.9361	0.43226	T	0.001	0.00287	T	10	0.01816994	0.00393	T	0.003641	0.08371	T	0.095	0.27398	.	.	0.381409048467	0.37754	0.1745168632238548	0.17370	0.418334703095	0.42424	0.247112795711	0.03470	T	0.122601	0.44639	T	-0.547711	0.00301	T	-0.594903	0.13244	T	0.0303036224923117	0.02036	T	0.774523	0.40643	T	0.31384557	0.54117	0.2927331	0.55301	0.31384557	0.54117	0.2927331	0.55300	-4.659	0.32904	T	.	.	0.134	0.29004	B	.	.	2.103210	0.26757	17.23	0.97301890906478028	0.33285	0.10572	0.16041	N	AEFGBI	0.082886	0.16788	N	-0.254634916400253	0.30920	1.728619	-0.174469571908187	0.32479	1.848186	0.999828703922214	0.43622	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.61	4.61	0.56724	-0.175000	0.09816	-0.363000	0.09661	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.417000	0.27162	0.6488:0.1791:0.0:0.1722	5.450	0.15859	916	0.20744	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	7683.08	35	chr9	122800426	.	A	G	7683.08	.	AC=2;AF=0.048;AN=42;DP=1026;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.36;SOR=0.769	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1342	20	1	0	0
chr9	122801017	122801017	C	T	exonic	OR1K1	.	stopgain	OR1K1:NM_080859:exon1:c.C895T:p.Q299X,	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.002	U	1.000	N	.	.	.	.	.	.	.	.	.	1.489	10.93	3.55	1.032	2.152	10.188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002344	0.36727	U	0.000000	0.792158	0.29213	N	.	.	.	.	.	.	.	.	.	0.01	0.00095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533817	0.95261	D	0.529014	0.95190	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.326430	0.95020	34	0.9816715094893288	0.38822	0.79044	0.39095	D	AEFDGBI	0.114172	0.22499	N	0.264134787507024	0.54342	3.599947	-0.0156217526685863	0.39009	2.306518	0.999793712830029	0.43153	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.49	3.55	0.39770	2.926000	0.48587	-2.809000	0.03339	0.581000	0.30040	0.693000	0.28559	0.000000	0.08366	0.024000	0.12247	0.4935:0.5065:0.0:0.0	10.188	0.42184	914	0.21048	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1757.98	35	chr9	122801017	.	C	T	1757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.942e+00;DP=884;ExcessHet=0.0000;FS=1.326;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=0.864;SOR=0.698	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr9	122849811	122849811	T	C	exonic	RC3H2	.	nonsynonymous SNV	RC3H2:NM_001354479:exon20:c.A3221G:p.K1074R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.956	P	0.899	P	0.000	D	1.000	D	0	N	0.8	T	-0.786	T	0.140	T	0.449	3.661	18.61	5.57	2.116	5.111	13.462	0.157	0.0285731711894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	0.956	0.54666	P	0.899	0.63802	P	0.000191	0.48115	D	0.143354	0.934829	0.37100	D	0	0.06538	N	0.8	0.48769	T	0.03	0.06612	N	0.411	0.50237	-0.7863	0.55944	T	0.140	0.45847	T	10	0.27385926	0.44937	T	0.028573	0.51232	D	0.157	0.40909	0.173	0.07894	0.703511283665	0.70093	0.18267405286198865	0.18186	0.530443275557	0.50583	0.539858341217	0.44425	T	0.022433	0.17293	T	-0.0837461	0.39104	T	-0.358072	0.38276	T	0.729137392728456	0.42165	D	0.852015	0.53695	D	0.14478275	0.33219	0.19641408	0.43370	0.14478275	0.33218	0.19641408	0.43369	-4.263	0.27655	T	.	.	0.082	0.08997	B	.;.	.;.	3.949676	0.57854	23.9	0.99830488458232303	0.91198	0.96154	0.67780	D	AEFDGBI	0.565484	0.57185	D	0.418795291250751	0.62457	4.461789	0.487782812205367	0.67180	5.049524	0.999999998859017	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.107000	0.64439	7.928000	0.74873	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:0.0:1.0	13.462	0.60683	922	0.19044	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	376.98	34	chr9	122849811	.	T	C	376.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.010e-01;DP=698;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=1.20;SOR=0.877	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1134	20	0	1	0
chr9	122919228	122919228	T	C	exonic	ZBTB26	.	nonsynonymous SNV	ZBTB26:NM_001304363:exon2:c.A707G:p.H236R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.329	B	0.024	B	0.000	D	0.632	D	1.15	L	2.85	T	-1.009	T	0.005	T	0.239	-0.093	3.542	5.52	2.099	3.297	11.646	0.061	.	0.0068	0.00678914	0.0020	0.0208	0.0013	0	0	5.994e-05	0.0033	0.0003	0.0019017	294	154602	rs7856488	0.0005	0.0005	0.0006	0.0005	0.0189	0.0005	0.0005	0.0177	0.0172	0.0189	0.0010	0	0	0	0.0010	1.079e-05	0.0012	0.0002	0.0054	0.0054	0.0059	0.0048	0.0188	0.0051	0.0049	0.0177	0.0172	0.0188	0	0.0017	0	0	0	0	7.35e-05	0.0019	0.0002	0.56	0.06381	T	0.596	0.08052	T	0.329	0.33227	B	0.024	0.20255	B	0.000125	0.49741	D	0.136105	0.63184	0.32797	D	0.69	0.16971	N	2.85	0.10578	T	-0.42	0.14193	N	0.12	0.12484	-1.0088	0.27292	T	0.005	0.01651	T	10	0.004674226	0.00098	T	.	.	.	0.061	0.17616	.	.	0.528308644755	0.52478	0.3908026097652664	0.38995	0.735025330382	0.62936	0.537713170052	0.44123	T	0.019455	0.15495	T	-0.557557	0.00262	T	-0.558073	0.16558	T	0.0138167155166516	0.00261	T	0.786121	0.42437	T	0.051965497	0.09622	0.07366444	0.16031	0.051965497	0.09621	0.07366444	0.16030	-3.623	0.18190	T	.	.	0.187	0.40295	B	.;.	.;.	3.202689	0.43564	21.8	0.90629416839424459	0.19881	0.69625	0.34262	D	AEFBI	0.085515	0.17335	N	-0.0498216977070354	0.39610	2.338675	0.125289609135848	0.45847	2.840661	0.999996495879249	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.52	5.52	0.82153	3.357000	0.51997	7.953000	0.75875	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.1481:0.8519	11.646	0.50521	902	0.24074	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1219.98	34	chr9	122919228	.	T	C	1219.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.260e+00;DP=815;ExcessHet=0.0000;FS=2.360;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=-4.180e-01;SOR=0.921	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1260	20	0	1	0
chr9	123034795	123034795	T	C	exonic	GPR21	.	nonsynonymous SNV	GPR21:NM_005294:exon2:c.T229C:p.F77L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.001	N	1.000	D	-1.48	N	2.15	T	-1.011	T	0.011	T	0.06	1.178	9.792	4.56	0.989	1.945	6.215	0.057	0.0032621387982	.	.	1.65e-05	0	0	0	0	3.001e-05	0	0	1.29e-05	2	154602	rs770765245	4.105e-06	4.104e-06	5.446e-06	2.75e-06	5.397e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.397e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.001470	0.38917	N	0.105128	1	0.81001	D	-1.325	0.00682	N	2.15	0.19311	T	2.07	0.00375	N	0.068	0.04072	-1.0108	0.26666	T	0.011	0.04369	T	10	0.0347476	0.01694	T	0.003262	0.07207	T	0.057	0.16321	0.565	0.68633	0.102598925029	0.09809	0.06781563823800936	0.06719	0.236423596909	0.26183	0.594082951546	0.52069	T	0.009831	0.08919	T	-0.338766	0.05474	T	-0.708904	0.05352	T	0.0693306912799621	0.08557	T	0.772023	0.40277	T	0.08272118	0.19069	0.08179076	0.18616	0.08272118	0.19069	0.08179076	0.18616	-0.321	0.00485	T	.	.	0.299	0.54220	B	.;.	.;.	1.469569	0.18935	14.00	0.87405950354740702	0.17204	0.77633	0.38193	D	AEFBI	0.227544	0.35134	N	-0.685115954587095	0.16445	0.8379502	-0.380016301865287	0.25594	1.408414	0.999999451093058	0.74766	0.475973	0.10046	0	0.546412	0.12157	0	0.670488	0.60580	0	0.714379	0.83352	0	.	.	5.69	4.56	0.55644	1.959000	0.40036	2.436000	0.32752	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.2979:0.0:0.7021	6.215	0.19866	883	0.28872	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3318.98	44	chr9	123034795	.	T	C	3318.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.264e+00;DP=917;ExcessHet=0.0000;FS=2.317;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.95;ReadPosRankSum=0.208;SOR=0.531	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1268	20	0	1	0
chr9	123035200	123035200	T	G	exonic	GPR21	.	nonsynonymous SNV	GPR21:NM_005294:exon2:c.T634G:p.F212V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.013	B	0.008	B	0.014	U	1.000	D	0.375	N	-0.55	T	-1.036	T	0.029	T	0.118	0.100	4.538	5.47	2.075	4.922	15.552	0.122	.	0.0084	0.00798722	0.0024	0.0252	0.0014	0	0	8.991e-05	0.0033	0.0002	0.0023027	356	154602	rs61736065	0.0007	0.0007	0.0008	0.0006	0.0240	0.0007	0.0006	0.0226	0.0221	0.0240	0.0012	0	0	0	0.0019	3.237e-05	0.0016	9.275e-05	0.0068	0.0068	0.0072	0.0064	0.0237	0.0064	0.0063	0.0225	0.0220	0.0237	0	0.0023	0	0	0	0	0.0001	0.0028	0	1.0	0.00964	T	0.502	0.11115	T	0.013	0.16609	B	0.008	0.13708	B	0.013997	0.28669	U	0.289540	1	0.81001	D	0.025	0.08010	N	-0.55	0.71068	T	-0.09	0.08340	N	0.248	0.29889	-1.0356	0.18668	T	0.029	0.12234	T	10	0.0053842664	0.00118	T	.	.	.	0.122	0.33800	.	.	0.187035705434	0.18338	0.17571031615458294	0.17490	0.279823739817	0.30466	0.682528078556	0.64632	T	0.010691	0.09625	T	-0.414395	0.01859	T	-0.349773	0.39231	T	0.0252198840203484	0.01302	T	0.850615	0.53448	D	0.22383426	0.45013	0.32517353	0.58434	0.22383426	0.45013	0.32517353	0.58434	-3.152	0.11903	T	.	.	0.165	0.38043	B	.;.	.;.	3.126680	0.42236	21.5	0.85013736831774678	0.15633	0.83492	0.42606	D	AEDGBHCI	0.378931	0.46214	N	-0.175551019835043	0.34156	1.946086	0.0539128897350122	0.42262	2.553113	0.999999999634231	0.74766	0.372202	0.05800	0	0.446627	0.06534	0	0.463624	0.06942	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	4.930000	0.63163	6.246000	0.55309	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.552	0.75902	883	0.28872	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1709.98	44	chr9	123035200	.	T	G	1709.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=923;ExcessHet=0.0000;FS=2.956;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=1.02;SOR=0.794	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1268	20	0	1	0
chr9	123161044	123161044	G	A	exonic	STRBP	.	nonsynonymous SNV	STRBP:NM_001376106:exon6:c.C560T:p.P187L	.	.	440	1072	10	0	0	10	0.00464253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.208	B	0.177	B	0.039	N	1.000	D	1.85	L	1.03	T	-0.925	T	0.153	T	0.669	4.633	25.4	5.87	2.775	5.438	20.211	0.265	0.00673242982643	7.7e-05	.	0.0006	0	9.325e-05	0	0	0.0004	0	0.0028	0.0004786	74	154602	rs142444657	0.0003	0.0003	0.0002	0.0003	0.0023	0.0003	0.0003	0.0019	0.0018	0	9.577e-05	0.0025	5.198e-05	0	0.0023	9.755e-05	0.0007	0.0022	0.0002	0.0002	0.0002	0.0002	0.0019	0.0001	0.0001	0.0010	0.0007	0	0	0	0.0014	0	0	0.0034	0.0002	0.0014	0.0019	0.019	0.50676	D	0.08	0.41913	T	0.208	0.29916	B	0.177	0.35687	B	0.039371	0.24178	N	0.463442	1	0.81001	D	2.095	0.58118	M	1.03	0.40469	T	-6.09	0.89947	D	0.423	0.46274	-0.9247	0.44901	T	0.153	0.48222	T	10	0.032680303	0.01425	T	0.006732	0.17784	T	0.265	0.57870	.	.	0.184605227958	0.18053	0.4574599938366358	0.45663	0.912855537141	0.71125	0.66125613451	0.61590	T	0.410613	0.76530	T	-0.278932	0.10781	T	-0.179919	0.56531	T	0.105363455505493	0.12936	T	0.961204	0.85427	D	0.21999906	0.44545	0.38012466	0.63051	0.21999906	0.44545	0.38012466	0.63051	-8.154	0.62114	D	.	.	0.121	0.27009	B	.;.;.	.;.;.	4.122673	0.61634	24.4	0.99917735051351897	0.98518	0.98527	0.83734	D	AEFGBI	0.586457	0.58449	D	0.309953762212396	0.56658	3.830923	0.454978974335932	0.65037	4.773324	0.999999999997967	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.87	5.87	0.94266	4.764000	0.61961	8.724000	0.78169	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.211	0.98289	525	0.74024	DZF domain|DZF domain|DZF domain;DZF domain|DZF domain|DZF domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	829.98	37	chr9	123161044	.	G	A	829.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.579;DP=761;ExcessHet=0.0000;FS=2.002;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=0.883;SOR=1.045	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1097	20	0	1	0
chr9	123377030	123377030	C	T	exonic	CRB2	.	nonsynonymous SNV	CRB2:NM_173689:exon13:c.C3826T:p.L1276F,	Focal segmental glomerulosclerosis 9, Autosomal recessive;Ventriculomegaly with cystic kidney disease, Autosomal recessive	.	371	1150	1	0	0	1	0.000434594	.	.	1602427	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.033	N	1.000	D	2.25	M	-2.36	D	0.866	D	0.852	D	0.346	4.655	25.6	5.27	2.461	3.121	13.219	0.595	0.272765687376	.	0.000199681	0.0005	0	0.0002	0	0	0	0	0.0041	0.0002652	41	154602	rs529201914	0.0001	0.0002	9.323e-05	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	0	0	0	0	0	0.0004	0	0.0002	0.0024	6.565e-05	6.562e-05	5.138e-05	8.057e-05	0.0021	3.514e-05	2.614e-05	0.0011	0.0009	0	0	0	0	0	0	0	0	0	0.0021	0.009	0.57480	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.033072	0.24945	N	0.196493	1	0.81001	D	2.525	0.73725	M	-2.36	0.88143	D	-2.56	0.55339	D	0.203	0.22486	0.866	0.95233	D	0.852	0.95077	D	10	0.020474374	0.00472	T	0.272766	0.89942	D	0.595	0.83911	0.324	0.30549	0.97252616999	0.97222	0.2949711514730339	0.29410	0.314377265389	0.33721	0.792335808277	0.80798	T	0.424369	0.77482	T	-0.229449	0.16722	T	-0.107291	0.62826	T	0.247496382263351	0.22761	T	0.790321	0.43084	T	0.23971505	0.46865	0.20183882	0.44182	0.274367	0.50502	0.20507929	0.44659	-10.628	0.77579	D	.	.	0.690	0.72540	P	.	.	4.258329	0.64698	24.7	0.99898628495950659	0.97124	0.91221	0.53098	D	AEFDGBCI	0.459443	0.51005	N	0.677033750790324	0.78128	6.809464	0.642785985286807	0.78075	6.803747	0.999999999985645	0.74766	0.695654	0.57023	0	0.759151	0.99529	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.27	5.27	0.73797	2.579000	0.45725	5.981000	0.52169	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.862000	0.40904	0.0:0.9235:0.0:0.0765	13.219	0.59301	376	0.83959	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	855.98	37	chr9	123377030	.	C	T	855.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.160e-01;DP=878;ExcessHet=0.0000;FS=0.839;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.44;ReadPosRankSum=1.35;SOR=0.558	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr9	123382480	123382480	G	A	exonic	DENND1A	.	nonsynonymous SNV	DENND1A:NM_001352965:exon21:c.C2015T:p.S672L	.	.	411	1090	19	2	0	23	0.0104403	.	.	700791	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.28	T	0.0	B	0.001	B	0.078	N	1.000	N	0.715	N	3.61	T	-1.021	T	0.015	T	0.051	-2.449	0.003	1.79	0.547	0.977	6.514	0.014	.	0.0040	0.00778754	0.0065	0.0016	0.0022	0.0107	0.0015	0.0056	0.0100	0.0155	0.0058796	909	154602	rs149353656	0.0060	0.0060	0.0057	0.0063	0.0153	0.0059	0.0058	0.0136	0.0134	0.0009	0.0025	0.0124	0.0107	0.0018	0.0153	0.0054	0.0074	0.0143	0.0047	0.0047	0.0047	0.0046	0.0172	0.0044	0.0043	0.0142	0.0131	0.0013	0.0055	0.0035	0.0124	0.0143	0.0010	0.0204	0.0055	0.0038	0.0172	0.728	0.03834	T	0.503	0.11078	T	0.0	0.02946	B	0.0	0.01387	B	0.077858	0.21079	N	0.460627	1	0.08975	N	1.595	0.40691	L	3.61	0.04446	T	-0.06	0.07882	N	0.023	0.00407	-1.0214	0.23259	T	0.015	0.05801	T	10	0.0024849474	0.00037	T	.	.	.	0.014	0.01968	.	.	0.102598925029	0.09809	0.12039123068237156	0.11966	0.266882232416	0.29225	0.305937558413	0.11293	T	0.015785	0.13173	T	-0.716801	0.00029	T	-0.790087	0.02162	T	1.83875618510104e-05	0.00000	T	0.70293	0.31283	T	0.036001902	0.04347	0.033401318	0.02229	0.036001902	0.04346	0.033401318	0.02229	-3.822	0.21134	T	.	.	0.070	0.03301	B	.	.	-0.066293	0.03848	0.828	0.57446845061756979	0.05771	0.17242	0.19752	N	AEFGBI	0.119193	0.23274	N	-0.895122886856267	0.10958	0.5263013	-0.835137910138829	0.13645	0.7089742	0.997878044778746	0.36137	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.06	1.79	0.23992	1.143000	0.31164	2.951000	0.35712	-0.768000	0.03469	0.399000	0.26162	0.947000	0.28924	0.007000	0.07825	0.467:0.0:0.533:0.0	6.514	0.21436	379	0.83778	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1126.98	38	chr9	123382480	.	G	A	1126.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.58;DP=867;ExcessHet=0.0000;FS=4.075;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=-9.400e-02;SOR=0.878	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	20	0	1	0
chr9	124898590	124898590	G	A	exonic	GOLGA1	.	nonsynonymous SNV	GOLGA1:NM_002077:exon15:c.C1366T:p.R456C,	.	.	.	.	.	.	.	.	.	.	.	2327459	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.004	B	0.0	B	0.250	N	0.999	N	-0.205	N	1.79	T	-1.024	T	0.030	T	0.068	1.192	9.846	0.911	0.367	0.768	3.547	0.072	0.00534674648005	0.0002	.	0.0003	0	8.639e-05	0	0.0002	0.0003	0	0.0007	0.0002587	40	154602	rs145802446	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	8.984e-05	0.0002	0	2.522e-05	1.873e-05	0	0.0002	0.0001	0.0006	0.0002	0.0002	0.0002	0.0001	0.0007	0.0001	0.0001	0.0004	0.0003	4.825e-05	0	0.0007	0	0	0	0	0.0002	0	0.0002	0.101	0.30375	T	0.074	0.42976	T	0.004	0.12183	B	0.0	0.01387	B	0.249924	0.03640	N	1.640840	0.999408	0.21245	N	1.15	0.29295	L	1.79	0.25509	T	-1.94	0.45042	N	0.11	0.09631	-1.0242	0.22344	T	0.030	0.12848	T	10	0.017940342	0.00386	T	0.005347	0.13710	T	0.072	0.21020	.	.	0.256283259241	0.25257	0.09652525677952846	0.09584	0.320752863791	0.34277	0.22121232748	0.01381	T	0.017065	0.13986	T	-0.549612	0.00293	T	-0.658506	0.08368	T	0.0286806595169057	0.01789	T	0.792821	0.43457	T	0.05980219	0.12196	0.049725432	0.07656	0.05980219	0.12196	0.049725432	0.07656	-6.166	0.47647	T	.	.	0.071	0.03925	B	.	.	2.566114	0.33239	19.28	0.95873070288754514	0.28052	0.12666	0.17407	N	AEFDBI	0.073392	0.14679	N	-0.800790940657859	0.13289	0.6536553	-0.716269094949666	0.16556	0.8763771	0.999437306929572	0.39683	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.44	0.911	0.18471	0.706000	0.25365	1.971000	0.29987	0.676000	0.76740	0.450000	0.26566	0.969000	0.29651	0.918000	0.45347	0.2787:0.0:0.5102:0.2112	3.547	0.07387	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1371.98	35	chr9	124898590	.	G	A	1371.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.340e-01;DP=808;ExcessHet=0.0000;FS=2.316;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=-7.450e-01;SOR=0.698	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1291	20	0	1	0
chr9	125220560	125220560	C	A	exonic	RABEPK	.	nonsynonymous SNV	RABEPK:NM_001174153:exon5:c.C233A:p.P78Q	.	.	424	1056	38	4	0	46	0.021316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.99	D	0.007	N	0.999	N	3.125	M	0.97	T	-1.078	T	0.028	T	0.605	4.027	20.7	5.7	2.693	4.386	18.832	0.176	.	0.0032	0.0131789	0.0108	0.0023	0.0273	0.0366	0.0003	0.0027	0.0099	0.0280	0.0099352	1536	154602	rs74769898	0.0060	0.0060	0.0055	0.0066	0.0350	0.0059	0.0059	0.0335	0.0328	0.0019	0.0264	0.0047	0.0350	0.0002	0.0232	0.0029	0.0067	0.0272	0.0059	0.0059	0.0052	0.0067	0.0292	0.0056	0.0055	0.0254	0.0239	0.0016	0	0.0235	0.0058	0.0292	0	0.0171	0.0028	0.0033	0.0217	0.043	0.57480	D	0.051	0.61642	T	1.0	0.90584	D	0.99	0.78936	D	0.006842	0.31758	N	0.363683	0.999446	0.47080	D	3.72	0.94773	H	0.97	0.66294	T	-4.42	0.84175	D	0.662	0.67132	-1.0783	0.07681	T	0.028	0.12014	T	10	0.0064848065	0.00147	T	.	.	.	0.221	0.51721	.	.	.	.	0.6740180901266283	0.67339	0.233025175349	0.25843	0.377287000418	0.21871	T	0.08909	0.44184	T	-0.249871	0.14115	T	-0.105936	0.62934	T	0.0934891749203669	0.11626	T	0.733327	0.38041	T	0.522306	0.68392	0.43743414	0.67163	0.522306	0.68393	0.43743414	0.67163	-10.065	0.77970	D	.	.	0.174	0.62994	B	.;.;.;.	.;.;.;.	4.352240	0.66859	25.0	0.99131009604192399	0.53249	0.96984	0.72022	D	AEFDGBI	0.664585	0.63370	D	0.31568777204679	0.56953	3.861072	0.418815872447802	0.62737	4.494331	0.999843403595419	0.43971	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.7	5.7	0.88690	4.807000	0.62267	7.675000	0.64997	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.737000	0.35335	0.0:1.0:0.0:0.0	18.832	0.92112	849	0.35778	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1708.98	38	chr9	125220560	.	C	A	1708.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.393e+00;DP=911;ExcessHet=0.0000;FS=0.695;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.73;ReadPosRankSum=0.215;SOR=0.602	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr9	125233778	125233778	C	T	exonic	RABEPK	.	nonsynonymous SNV	RABEPK:NM_001174153:exon8:c.C764T:p.T255M	.	.	.	.	.	.	.	.	.	.	.	2372335	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.23	T	0.02	B	0.008	B	0.360	N	1.000	N	0.41	N	1.65	T	-1.063	T	0.047	T	0.227	0.632	7.399	-8.62	-1.671	-2.284	2.544	0.017	0.00523965873675	.	.	4.942e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs759767703	3.147e-05	3.147e-05	2.723e-05	3.576e-05	0.0017	2.412e-05	2.158e-05	0.0009	0.0007	0	0	0	2.519e-05	1.872e-05	0.0017	8.095e-06	1.656e-05	0.0003	1.315e-05	1.313e-05	1.285e-05	1.346e-05	0.0002	2.18e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	0	0	0.0002	0.29	0.17069	T	0.133	0.34596	T	0.019	0.18235	B	0.002	0.13708	B	0.359639	0.04296	N	1.359040	1	0.08975	N	0.69	0.16971	N	1.65	0.43672	T	-0.73	0.20791	N	0.076	0.09207	-1.0632	0.10974	T	0.047	0.20235	T	10	0.024407148	0.00670	T	0.00524	0.13371	T	0.017	0.02790	0.392	0.41606	0.17948927462	0.17512	0.5009189962138744	0.50013	0.0311836038897	0.03231	0.265711128712	0.05590	T	0.003012	0.02412	T	-0.470412	0.00845	T	-0.613167	0.11729	T	0.0318520035249476	0.02282	T	0.562444	0.19755	T	0.011475162	0.00018	0.018868558	0.00069	0.011475162	0.00018	0.018868558	0.00069	-6.162	0.47615	T	.	.	0.071	0.04316	B	.;.;.	.;.;.	-0.221806	0.02981	0.446	0.83800268727343097	0.14927	0.05100	0.10901	N	ALL	0.090435	0.18326	N	-1.64901917663747	0.01039	0.04507976	-1.70520053924264	0.01115	0.05009571	1.0	0.98316	0.730579	0.87903	0	0.697927	0.68747	0	0.643519	0.47002	0	0.648885	0.59868	0	.	.	5.44	-8.62	0.00765	-2.377000	0.01148	-2.116000	0.04189	-0.917000	0.02218	0.000000	0.06391	0.000000	0.08366	0.837000	0.39485	0.0945:0.2169:0.2824:0.4062	2.544	0.04445	851	0.35303	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	4012.08	34	chr9	125233778	.	C	T	4012.08	.	AC=2;AF=0.048;AN=42;DP=842;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.10;SOR=0.998	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	1	0	0
chr9	125236755	125236755	T	A	exonic	HSPA5	.	nonsynonymous SNV	HSPA5:NM_005347:exon8:c.A1802T:p.K601M,	.	.	.	.	.	.	.	.	.	.	.	723330	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.04	D	0.708	P	0.778	P	0.000	D	1.000	D	0.145	N	2.54	T	-1.036	T	0.030	T	0.596	3.510	17.93	4.87	1.955	6.250	13.957	0.244	.	.	0.00199681	0.0011	0	8.637e-05	0.0157	0	0	0	0.0001	0.0009896	153	154602	rs143920039	0.0005	0.0005	0.0005	0.0005	0.0175	0.0005	0.0005	0.0164	0.0160	0	2.239e-05	0	0.0175	0	0	8.995e-07	0.0004	0.0003	0.0005	0.0005	0.0003	0.0006	0.0127	0.0004	0.0003	0.0102	0.0094	0	0	6.539e-05	0	0.0127	0	0	1.47e-05	0	0.0004	0.002	0.72154	D	0.005	0.72224	D	0.708	0.42036	P	0.778	0.57212	P	0.000000	0.84330	D	0.047544	0.999996	0.58761	D	.	.	.	2.54	0.13916	T	-0.5	0.15782	N	0.582	0.60325	-1.0356	0.18668	T	0.030	0.12760	T	10	0.00803262	0.00182	T	.	.	.	0.244	0.55061	.	.	0.363734036182	0.35979	0.6434487209229083	0.64279	2.34817919913	0.96799	0.777296900749	0.78520	T	0.109227	0.42292	T	-0.417924	0.01764	T	-0.360771	0.37964	T	0.092604069324358	0.11522	T	0.976802	0.91949	D	0.8871806	0.90267	0.44057533	0.67371	0.8871806	0.90268	0.44057533	0.67371	-6.557	0.50724	T	.	.	0.226	0.45798	B	.	.	5.097186	0.85145	28.5	0.99510660066552392	0.68618	0.97292	0.73837	D	AEFBCI	0.863692	0.78229	D	0.322924629608043	0.57326	3.899619	0.404874813769774	0.61868	4.393068	0.999999999830678	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.638787	0.57140	0	.	.	4.87	4.87	0.62877	5.130000	0.64587	6.246000	0.55309	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	13.957	0.63668	851	0.35303	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1439.98	33	chr9	125236755	.	T	A	1439.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.308e+00;DP=835;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.91;MQRankSum=0.961;QD=11.71;ReadPosRankSum=-2.311e+00;SOR=0.638	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1416	20	0	1	0
chr9	125337586	125337586	G	A	exonic	GAPVD1	.	nonsynonymous SNV	GAPVD1:NM_001282681:exon15:c.G2809A:p.G937R	.	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.976	D	0.000	D	1.000	D	0.695	N	.	.	-0.963	T	0.185	T	0.676	5.173	32	6.17	2.941	7.421	19.868	0.133	0.00418107372795	.	.	0.0002	0	0.0002	0	0	9.119e-05	0	0.0010	0.0001552	24	154602	rs202229222	9.925e-05	9.919e-05	7.627e-05	0.0001	0.0010	8.583e-05	8.052e-05	0.0008	0.0007	0	0.0002	3.835e-05	0	3.769e-05	0	4.228e-05	6.626e-05	0.0010	7.227e-05	7.224e-05	5.138e-05	9.414e-05	0.0006	3.971e-05	3.127e-05	0.0002	8.981e-05	0	0	0.0001	0	0	0	0	5.878e-05	0.0010	0.0006	0.009	0.72154	D	0.01	0.70582	D	0.999	0.77913	D	0.976	0.73562	D	0.000000	0.84330	D	0.047947	1	0.81001	D	0.895	0.22405	L	.	.	.	-2.36	0.57275	N	0.649	0.69037	-0.9630	0.38606	T	0.185	0.53421	T	9	0.084151566	0.14075	T	0.004181	0.10058	T	0.304	0.62510	0.127	0.03251	0.366868811517	0.36303	0.5378032660652269	0.53705	0.846509016413	0.68332	0.816745221615	0.84528	D	0.024343	0.29607	T	-0.103324	0.35875	T	0.00210057	0.70472	D	0.075086420777365	0.09347	T	0.978302	0.93484	D	0.4847483	0.66187	0.513924	0.71914	0.4847483	0.66188	0.513924	0.71914	-3.557	0.18994	T	.	.	0.575	0.69906	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.845216	0.79146	27.0	0.99934165072689995	0.99535	0.97959	0.78437	D	AEFDBHCI	0.903934	0.85361	D	0.362227958903113	0.59389	4.117804	0.518837538973071	0.69260	5.334886	1.0	0.98316	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	6.17	6.17	0.99707	6.495000	0.73573	11.870000	0.98549	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.868	0.96822	846	0.36215	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1091.98	39	chr9	125337586	.	G	A	1091.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.23;DP=770;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=-1.205e+00;SOR=0.787	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1312	20	0	1	0
chr9	125915818	125915818	C	T	exonic	PBX3	.	nonsynonymous SNV	PBX3:NM_001134778:exon3:c.C182T:p.A61V	.	.	425	1071	24	2	0	28	0.0129032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.000	D	1.000	D	2.25	M	1.46	T	-0.808	T	0.169	T	0.534	3.025	16.09	5.87	2.941	5.472	20.583	0.252	.	0.0061	0.00279553	0.0068	0.0021	0.0065	0	0.0009	0.0081	0.0145	0.0101	0.0067981	1051	154602	rs145687528	0.0086	0.0086	0.0085	0.0087	0.0135	0.0085	0.0084	0.0111	0.0105	0.0016	0.0075	0.0146	0	0.0014	0.0135	0.0091	0.0085	0.0114	0.0062	0.0062	0.0063	0.0061	0.0113	0.0058	0.0057	0.0099	0.0094	0.0017	0	0.0113	0.0133	0	0.0012	0.0170	0.0081	0.0128	0.0100	0.014	0.59928	D	0.013	0.64786	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.045618	1	0.81001	D	2.215	0.62545	M	1.46	0.32238	T	-2.52	0.58896	D	0.398	0.43899	-0.8085	0.54641	T	0.169	0.50842	T	10	0.008377612	0.00190	T	.	.	.	0.252	0.56159	.	.	0.364535869594	0.36064	0.5215813592853803	0.52081	0.900687736312	0.70621	0.659279584885	0.61305	T	0.152456	0.75873	T	-0.365064	0.03852	T	-0.286778	0.46107	T	0.0387569566226687	0.03466	T	0.945505	0.79398	D	0.46056888	0.64706	0.38526508	0.63447	0.46056888	0.64707	0.38526508	0.63447	-6.053	0.46819	T	.	.	0.266	0.64649	B	.;.;.;.;.	.;.;.;.;.	5.139392	0.86042	28.8	0.99781126894636163	0.86780	0.96113	0.67592	D	AEFBI	0.563643	0.57075	D	0.649353472822166	0.76325	6.46599	0.633237521612499	0.77366	6.665838	1.0	0.98316	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.756605	0.99741	0	.	.	5.87	5.87	0.94266	5.770000	0.68526	7.697000	0.66086	0.549000	0.26987	0.998000	0.41325	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	20.583	0.99411	211	0.91797	.;PBX;PBX;PBX;.	.	.	.	.	chr9:128678097	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	3313.68	35	chr9	125915818	.	C	T	3313.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.300e-02;DP=894;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=-5.250e-01;SOR=0.673	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1098	18	0	3	0
chr9	127196583	127196583	G	T	exonic	RALGPS1	.	nonsynonymous SNV	RALGPS1:NM_001322321:exon13:c.G1147T:p.G383C	.	.	418	1084	20	0	0	20	0.00914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.001	B	0.013	B	0.170	N	0.000	P	0.55	N	1.72	T	-1.094	T	0.002	T	0.488	2.745	15.14	4.57	2.572	4.607	6.329	0.151	.	0.0004	0.0313498	0.0150	0.0005	0.0010	0.0965	0	0.0010	0.0167	0.0546	0.0136285	2107	154602	rs57728614	0.0068	0.0068	0.0054	0.0082	0.0939	0.0067	0.0066	0.0913	0.0903	0.0003	0.0004	0.0070	0.0939	7.49e-05	0.0028	0.0008	0.0086	0.0532	0.0057	0.0057	0.0044	0.0070	0.0907	0.0053	0.0052	0.0839	0.0812	0.0004	0	0.0007	0.0069	0.0907	9.411e-05	0	0.0007	0.0047	0.0581	0.002	0.72154	D	0.117	0.36365	T	0.001	0.07471	B	0.013	0.16460	B	0.170414	0.03106	N	1.540210	0.467754	0.81001	P	1.245	0.31408	L	1.72	0.26588	T	-3.01	0.62518	D	0.123	0.11483	-1.0941	0.04884	T	0.002	0.00556	T	9	0.001595825	0.00018	T	.	.	.	0.151	0.39764	.	.	.	.	0.5895088045521972	0.58880	0.79976336125	0.66189	0.527296543121	0.42653	T	0.048189	0.27944	T	-0.453124	0.01082	T	-0.347092	0.39537	T	0.0433640058427984	0.04304	T	0.70313	0.31322	T	0.25829044	0.48878	0.186856	0.41883	0.25829044	0.48878	0.186856	0.41883	-2.739	0.07636	T	.	.	0.101	0.17700	B	.	.	4.141253	0.62042	24.4	0.99497777839643564	0.67859	0.94509	0.61395	D	AEFDBI	0.743594	0.68685	D	-0.0735944810685479	0.38553	2.259815	0.123333434683196	0.45745	2.832247	0.999999907550948	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.48	4.57	0.55860	5.078000	0.64255	9.828000	0.81844	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.813000	0.38311	0.2426:0.0:0.7574:0.0	6.329	0.20467	856	0.34373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1407.98	38	chr9	127196583	.	G	T	1407.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.740e-01;DP=813;ExcessHet=0.0000;FS=0.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.04;ReadPosRankSum=-1.236e+00;SOR=0.600	GT:AD:DP:GQ:PL	0/1:50,58:108:99:1422,0,1227	20	0	1	0
chr9	127435163	127435163	G	A	exonic	ZNF79	.	nonsynonymous SNV	ZNF79:NM_001286696:exon3:c.G107A:p.R36Q	.	.	428	1072	22	0	0	22	0.010157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.006	B	0.001	B	.	.	1.000	N	1.345	L	5.22	T	-0.957	T	0.003	T	0.086	1.607	11.33	-2.4	-0.420	-0.356	8.140	0.023	0.00332175526705	0.0002	0.000998403	0.0008	0.0002	0.0008	0	0	0.0010	0.0011	0.0013	0.0007827	121	154602	rs192043906	0.0007	0.0007	0.0006	0.0007	0.0137	0.0006	0.0006	0.0113	0.0104	0.0003	0.0015	0.0021	2.522e-05	1.873e-05	0.0137	0.0005	0.0017	0.0013	0.0005	0.0005	0.0006	0.0005	0.0011	0.0004	0.0004	0.0007	0.0006	0.0002	0	0.0011	0.0017	0	0	0.0136	0.0006	0.0014	0.0004	0.024	0.47745	D	0.045	0.51737	D	0.006	0.13644	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	2.165	0.60562	M	5.22	0.01150	T	-2.19	0.52776	N	0.238	0.27910	-0.9571	0.39717	T	0.003	0.00929	T	9	0.0062482655	0.00141	T	0.003322	0.07390	T	0.023	0.04649	.	.	0.247322355667	0.24350	0.12266200541019877	0.12192	0.1364358858	0.15394	0.316064625978	0.12824	T	0.09501	0.64465	T	-0.654491	0.00068	T	-0.748286	0.03553	T	0.0107753626664327	0.00152	T	0.610439	0.23144	T	0.06905537	0.15097	0.09428162	0.22308	0.06905537	0.15097	0.09428162	0.22308	-5.433	0.41236	T	.	.	0.107	0.20078	B	.;.;.	.;.;.	1.009862	0.13890	10.45	0.94382779265154004	0.24758	0.01954	0.05935	N	AEFDBI	0.018082	0.00522	N	-1.24330538138448	0.04389	0.1979545	-1.34712685166379	0.03840	0.179934	0.965062819889041	0.28805	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.42	-2.4	0.06204	-0.296000	0.08323	-0.139000	0.11537	-0.103000	0.15852	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.6709:0.0:0.3291:0.0	8.140	0.30238	513	0.74941	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	966.98	35	chr9	127435163	.	G	A	966.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=0.426;SOR=0.617	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1160	20	0	1	0
chr9	127444925	127444925	A	G	exonic	ZNF79	.	nonsynonymous SNV	ZNF79:NM_001286698:exon3:c.A823G:p.K275E	.	.	321	1200	1	0	0	1	0.000416493	.	.	2369386	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.975	D	0.819	P	.	.	0.567	D	1.595	L	1.85	T	-0.847	T	0.101	T	0.375	3.570	18.19	3.74	1.574	0.204	10.478	0.103	0.00685241169902	.	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs759721493	2.873e-05	2.873e-05	2.859e-05	2.888e-05	0.0042	2.151e-05	1.908e-05	0.0029	0.0024	8.961e-05	0	0	0	0	0.0042	1.079e-05	4.967e-05	0	8.544e-05	8.534e-05	5.146e-05	0.0001	0.0001	4.959e-05	3.964e-05	2.261e-05	9.07e-06	2.409e-05	0	0.0001	0	0	0	0.0306	0	0.0005	0	0.002	0.72154	D	0.002	0.79402	D	0.975	0.58077	D	0.819	0.59018	P	.	.	.	.	0.56659	0.32258	D	1.085	0.27262	L	1.85	0.24472	T	-2.46	0.53736	N	0.263	0.29774	-0.8470	0.52175	T	0.101	0.37366	T	9	0.15446424	0.29135	T	0.006852	0.18121	T	0.103	0.29403	.	.	0.51469891142	0.51112	0.018518818931085142	0.01805	0.510821598874	0.49180	0.660697817802	0.61509	T	0.118597	0.62522	T	-0.146618	0.28842	T	-0.432897	0.29606	T	0.636707656972875	0.37898	D	0.39886	0.19511	T	0.516231	0.68042	0.46167362	0.68740	0.516231	0.68043	0.46167362	0.68741	-9.335	0.69827	D	.	.	0.595	0.79385	P	.;.;.;.	.;.;.;.	3.665557	0.52099	23.2	0.99822181640024499	0.90502	0.42449	0.26880	N	AEFDGBHCI	0.173602	0.30069	N	0.14083202498214	0.48377	3.050842	0.0458040667013462	0.41869	2.522704	0.999999998571028	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.465395	0.07113	1	0.636168	0.56350	0	.	.	3.74	3.74	0.42108	0.125000	0.15577	5.562000	0.48920	0.658000	0.54486	0.000000	0.06391	0.523000	0.25320	0.960000	0.51673	1.0:0.0:0.0:0.0	10.478	0.43862	510	0.75209	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1095.98	37	chr9	127444925	.	A	G	1095.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.870e-01;DP=896;ExcessHet=0.0000;FS=1.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=-1.332e+00;SOR=0.883	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr9	127467774	127467774	C	T	exonic	LRSAM1	.	nonsynonymous SNV	LRSAM1:NM_001005374:exon9:c.C563T:p.P188L	Charcot-Marie-Toothe disease, axonal, type 2P, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	458829	Charcot-Marie-Tooth_disease_axonal_type_2P	Gene:431712,MONDO:MONDO:0013753,MedGen:C3280797,OMIM:614436,Orphanet:300319,Orphanet:99941	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	1.0	D	0.999	D	0.000	D	1.000	D	2.215	M	0.96	T	-0.045	T	0.591	D	0.796	3.268	16.97	5.46	2.581	4.183	14.809	0.411	0.310909597252	0.0002	0.000399361	5.766e-05	0.0003	0	0.0001	0	4.094e-05	0	0	5.82e-05	9	154602	rs138830549	3.565e-05	3.625e-05	3.001e-05	4.136e-05	0.0002	2.769e-05	2.507e-05	0.0001	7.236e-05	5.976e-05	4.503e-05	0	0.0002	0	0	2.7e-05	0.0001	3.51e-05	9.845e-05	9.842e-05	8.991e-05	0.0001	0.0005	6e-05	4.874e-05	0.0002	0.0002	0.0001	0	0.0005	0	0.0004	0	0	0	0	0	0.079	0.33753	T	0.185	0.28958	T	1.0	0.90584	D	0.998	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.51	0.73131	M	0.96	0.79761	T	-8.08	0.96650	D	0.871	0.86833	-0.0455	0.81302	T	0.591	0.85364	D	10	0.8022964	0.79615	D	0.31091	0.91182	D	0.411	0.72252	.	.	0.90866188364	0.90774	0.46995358583002417	0.46914	0.708778403332	0.61575	0.576048374176	0.49529	T	0.411223	0.76573	T	-0.00645679	0.50759	T	0.0729585	0.75107	D	0.857014179229736	0.50781	D	0.89781	0.64256	D	0.33508635	0.55885	0.34157112	0.59894	0.33508635	0.55886	0.34157112	0.59894	-10.392	0.76242	D	0.9255685117039608	0.96852	0.712	0.73625	P	.;.;.;.	.;.;.;.	4.697871	0.75339	26.3	0.99885317291502163	0.96049	0.88811	0.48921	D	AEFDGBI	0.437211	0.49711	N	0.351972554001504	0.58845	4.059205	0.302541633872799	0.55689	3.731755	0.999999985686865	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.46	5.46	0.80021	4.598000	0.60777	7.654000	0.63860	0.596000	0.33519	0.997000	0.40164	1.000000	0.68203	0.116000	0.19000	0.0:1.0:0.0:0.0	14.809	0.69606	511	0.75131	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1056.98	34	chr9	127467774	.	C	T	1056.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.213e+00;DP=841;ExcessHet=0.0000;FS=1.580;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.26;ReadPosRankSum=-1.343e+00;SOR=0.671	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1226	20	0	1	0
chr9	127707148	127707148	G	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.G117C:p.E39D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.58	P	0.16	B	0.012	N	1.000	D	1.87	L	0.85	T	-1.078	T	0.089	T	0.151	2.394	13.96	2.23	0.458	0.075	3.228	0.048	0.00511713534183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	4.926e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.133	0.34359	T	0.58	0.38813	P	0.16	0.34752	B	0.011693	0.29437	N	0.400143	0.937019	0.26902	N	.	.	.	0.85	0.47130	T	-2.13	0.48354	N	0.253	0.28616	-1.0776	0.07821	T	0.089	0.34271	T	10	0.15869087	0.29835	T	0.005117	0.13001	T	0.048	0.13305	0.117	0.02508	0.511220899679	0.50763	0.22389107574446282	0.22304	0.665481085244	0.59146	.	.	.	0.083009	0.36958	T	-0.233602	0.16174	T	-0.573329	0.15145	T	0.768105268478394	0.44326	D	0.642936	0.25461	T	0.07620602	0.17219	0.08653153	0.20054	0.07620602	0.17219	0.08653153	0.20054	-5.906	0.47647	T	.	.	0.170	0.37312	B	.;.	.;.	1.611943	0.20598	14.82	0.99153328533649743	0.53875	0.62448	0.31784	D	AEFDGBCI	0.199371	0.32618	N	-0.115357649790928	0.36724	2.126585	-0.0733379664216469	0.36497	2.124728	0.999992507834303	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	2.23	0.27189	0.091000	0.14885	0.384000	0.17813	0.649000	0.52879	0.993000	0.37899	0.958000	0.29226	0.883000	0.42306	0.3494:0.0:0.4698:0.1808	3.228	0.06340	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.425	2743.82	57	chr9	127707148	.	G	C,A	2743.82	.	AC=11,6;AF=0.275,0.150;AN=40;BaseQRankSum=-9.810e-01;DP=1576;ExcessHet=25.1139;FS=227.043;InbreedingCoeff=-0.7001;MLEAC=11,6;MLEAF=0.275,0.150;MQ=60.00;MQRankSum=0.00;QD=2.28;ReadPosRankSum=0.651;SOR=11.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,8,0:74:22:0|1:127707145_G_T:22,0,2583,221,2607,2828:127707145	3	0	11	1
chr9	127707149	127707149	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.T118C:p.F40L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.957	D	0.799	P	0.000	N	1.000	D	2.175	M	1.01	T	-0.875	T	0.164	T	0.368	4.702	26.1	4.33	0.927	4.094	9.215	0.159	0.019678184343	.	.	8.323e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs757079161	0.0001	0.0036	0.0001	8.536e-05	0.0002	9.346e-05	8.764e-05	0.0001	9.824e-05	9.678e-05	0	0	2.569e-05	0	0	0.0001	5.349e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.191	0.28391	T	0.957	0.54824	D	0.799	0.58136	P	0.000003	0.62929	N	0.105467	0.999583	0.47691	D	.	.	.	1.01	0.41058	T	-5.4	0.85103	D	0.489	0.52829	-0.8745	0.50188	T	0.164	0.50078	T	10	0.3438111	0.51386	T	0.019678	0.42104	T	0.159	0.41286	0.15	0.05339	0.612519348966	0.60940	0.6570251018140777	0.65639	0.875989159395	0.69568	.	.	.	0.327925	0.69838	T	-0.210031	0.19374	T	-0.357944	0.38290	T	0.938539505004883	0.60923	D	0.579842	0.20971	T	0.85248286	0.87520	0.67909664	0.81148	0.85248286	0.87521	0.67909664	0.81149	-9.512	0.72170	D	.	.	0.947	0.86617	P	.;.	.;.	4.218635	0.63791	24.6	0.99813715176146511	0.89708	0.79497	0.39404	D	AEFDGBCI	0.430877	0.49340	N	0.327399038086192	0.57559	3.923681	0.314456036050452	0.56389	3.802111	0.999999899276312	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	4.33	0.51083	4.073000	0.57290	3.987000	0.40955	0.638000	0.52053	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.0:0.0857:0.0:0.9143	9.215	0.36505	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	1341.42	63	chr9	127707149	.	T	C	1341.42	.	AC=10;AF=0.250;AN=40;BaseQRankSum=-1.954e+00;DP=1423;ExcessHet=6.1002;FS=146.491;InbreedingCoeff=-0.3339;MLEAC=10;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=1.86;ReadPosRankSum=0.801;SOR=10.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,8:74:22:0|1:127707145_G_T:22,0,2583:127707145	10	0	10	1
chr9	127707150	127707150	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.T119C:p.F40S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	1.0	D	0.993	D	0.000	D	1.000	D	2.175	M	1.1	T	-0.776	T	0.227	T	0.925	4.505	24.2	5.46	2.075	5.688	13.490	0.321	0.0295012344328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.025e-05	0.0013	2.604e-05	1.446e-05	3.126e-05	1.404e-05	1.209e-05	1.739e-05	1.477e-05	3.126e-05	0	0	0	0	0	2.5e-05	0	1.182e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.053	0.47336	T	1.0	0.90584	D	0.993	0.81110	D	0.000003	0.62929	D	0.105467	0.99989	0.50595	D	.	.	.	1.1	0.39050	T	-7.17	0.94145	D	0.892	0.90025	-0.7757	0.56542	T	0.227	0.59233	T	10	0.62868714	0.68391	D	0.029501	0.51995	D	0.321	0.64318	0.292	0.25400	0.617737460462	0.61464	0.8563961070607592	0.85602	1.09668489094	0.77603	.	.	.	0.333157	0.70304	T	0.256066	0.79166	D	0.130044	0.78896	D	0.995957314968109	0.88384	D	0.631737	0.24648	T	0.883188	0.89932	0.88241297	0.93731	0.883188	0.89933	0.88241297	0.93731	-12.272	0.88445	D	.	.	0.839	0.79209	P	.;.	.;.	4.916668	0.80938	27.4	0.99871547018832008	0.94902	0.88781	0.48875	D	AEFDGBCI	0.697108	0.65523	D	0.612068453635021	0.73938	6.048333	0.59676151836649	0.74706	6.182971	0.9999999998598	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	5.46	0.80021	5.665000	0.67722	5.919000	0.51137	0.638000	0.52053	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.0:0.0:1.0	13.490	0.60843	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1185.39	50	chr9	127707150	.	T	C	1185.39	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-2.872e+00;DP=1368;ExcessHet=4.7172;FS=144.390;InbreedingCoeff=-0.2762;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.85;ReadPosRankSum=0.908;SOR=10.283	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,8:74:22:0|1:127707145_G_T:22,0,2583:127707145	12	0	9	0
chr9	127709469	127709469	G	A	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon2:c.G209A:p.R70H,	.	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.516	P	0.063	B	0.026	N	1.000	D	1.155	L	0.92	T	-1.077	T	0.065	T	0.22	2.186	13.27	3.22	1.117	1.259	8.615	0.031	0.00883925515285	0.0003	0.000399361	0.0002	0	0	0	0	0.0002	0	0.0003	0.0001617	25	154602	rs372321100	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0006	0.0006	0	2.237e-05	0	5.038e-05	1.879e-05	0.0009	0.0002	0.0001	0.0008	0.0001	0.0001	6.424e-05	0.0002	0.0002	7.086e-05	5.743e-05	0.0001	8.876e-05	2.406e-05	0	0	0	0.0002	0	0	0.0002	0.0005	0.0002	0.133	0.26409	T	0.069	0.45961	T	0.516	0.37437	P	0.063	0.27082	B	0.026317	0.25941	N	0.451476	0.998678	0.21993	N	.	.	.	0.92	0.44461	T	-2.15	0.48687	N	0.317	0.35727	-1.0768	0.07983	T	0.065	0.26948	T	10	0.05564767	0.06116	T	0.008839	0.23318	T	0.031	0.07369	.	.	0.519187973786	0.51563	0.25266778676588714	0.25180	0.908210176279	0.70936	.	.	.	0.051506	0.28899	T	-0.434093	0.01401	T	-0.51189	0.21121	T	0.0703867058637956	0.08704	T	0.759724	0.38410	T	0.055521592	0.10801	0.0561324	0.09975	0.055521592	0.10800	0.0561324	0.09974	-6.814	0.57540	T	.	.	0.09	0.12607	B	.;.	.;.	2.818074	0.37116	20.4	0.99607729246223076	0.74634	0.54234	0.29566	D	AEFGBCI	0.120243	0.23432	N	-0.139241537740942	0.35695	2.053498	-0.0551691638916645	0.37267	2.179737	0.999258224189872	0.38906	0.660377	0.49826	0	0.588066	0.40923	0	0.658983	0.55881	0	0.592323	0.36904	0	.	.	5.12	3.22	0.36041	1.303000	0.33075	1.723000	0.28273	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.608000	0.31589	0.1876:0.0:0.8124:0.0	8.615	0.32988	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	857.98	34	chr9	127709469	.	G	A	857.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=781;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.86;ReadPosRankSum=-2.830e-01;SOR=0.614	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1195	20	0	1	0
chr9	127720334	127720334	A	T	exonic	TTC16	.	nonsynonymous SNV	TTC16:NM_001317037:exon6:c.A557T:p.Q186L	.	.	429	1087	6	0	0	6	0.00275229	.	.	3337345	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.34	T	0.003	B	0.006	B	0.045	N	1.000	N	0.6	N	1.49	T	-1.089	T	0.070	T	0.157	0.137	4.735	-1.75	-0.229	0.347	0.351	0.046	0.00478557097961	.	.	0.0004	0	8.649e-05	0	0.0005	0.0003	0.0011	0.0012	0.0003299	51	154602	rs199988634	0.0003	0.0003	0.0003	0.0004	0.0011	0.0003	0.0003	0.0009	0.0008	2.987e-05	0.0002	0	0	0.0005	0.0005	0.0003	0.0003	0.0011	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	4.813e-05	0	0.0004	0	0	0.0009	0	0.0004	0.0005	0.0006	0.345	0.12511	T	0.196	0.27943	T	0.003	0.11197	B	0.006	0.12133	B	0.044888	0.01939	N	1.974330	1	0.08975	N	1.5	0.37844	L	0.68	0.51952	T	-3.73	0.70920	D	0.269	0.30461	-1.0894	0.05633	T	0.070	0.28412	T	10	0.016613662	0.00351	T	0.004786	0.11941	T	0.046	0.12618	.	.	0.470566500458	0.46685	0.11643789719278289	0.11571	0.154030541235	0.17391	0.243443250656	0.03108	T	0.038089	0.24714	T	-0.511156	0.00494	T	-0.563365	0.16062	T	0.0266434656445041	0.01494	T	0.361964	0.08365	T	0.06902892	0.15089	0.082287535	0.18768	0.06902892	0.15088	0.082287535	0.18767	-8.352	0.63445	D	.	.	0.119	0.24294	B	.	.	0.666978	0.10352	7.082	0.77470235569658508	0.11889	0.04619	0.10280	N	AEFGBI	0.074381	0.14907	N	-1.09240458688327	0.06782	0.3132052	-1.10455733871537	0.07613	0.3709792	0.999935666871562	0.46732	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.17	-1.75	0.07598	0.335000	0.19546	-0.257000	0.10458	0.567000	0.28720	0.000000	0.06391	0.000000	0.08366	0.460000	0.28118	0.3727:0.1334:0.2344:0.2594	0.351	0.00325	279	0.89001	Tetratricopeptide repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1684.98	34	chr9	127720334	.	A	T	1684.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.806;DP=846;ExcessHet=0.0000;FS=0.631;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=2.25;SOR=0.625	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1337	20	0	1	0
chr9	127724133	127724133	C	T	exonic	TTC16	.	stopgain	TTC16:NM_001317037:exon8:c.C847T:p.R283X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	.	.	.	.	.	.	1.000	A	.	.	.	.	-0.979	T	0.083	T	.	4.747	26.5	4.66	1.295	2.102	12.121	0.136	.	0.0004	0.000199681	0.0002	0.0002	9.063e-05	0	0	0.0003	0	0	0.0001876	29	154602	rs202066294	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	8.964e-05	0.0002	0	0	0	0.0002	0.0002	0.0003	0	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	0.0001	0.0003	0.0002	0	0	0.0006	0	0	0	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000090	0.51296	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.137	0.13484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.301283	0.83072	D	0.495319	0.94515	D	0.591535806655884	0.36067	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.029507	0.97104	37	0.9974738833516934	0.84002	0.67096	0.33309	D	AEFGBCI	0.154632	0.27969	N	0.513060626679337	0.67862	5.138536	0.341409612938418	0.57991	3.967328	0.999999991525869	0.74766	0.615755	0.39536	0	0.578056	0.33634	0	0.618376	0.41669	0	0.562822	0.20929	0	.	.	5.58	4.66	0.57857	2.296000	0.43245	2.420000	0.32683	0.469000	0.21855	1.000000	0.71638	1.000000	0.68203	0.082000	0.17360	0.3222:0.6778:0.0:0.0	12.121	0.53192	282	0.88846	Tetratricopeptide repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1369.98	39	chr9	127724133	.	C	T	1369.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.190e-01;DP=846;ExcessHet=0.0000;FS=3.393;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.91;ReadPosRankSum=0.333;SOR=0.388	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr9	127740267	127740267	C	T	exonic	SH2D3C	.	nonsynonymous SNV	SH2D3C:NM_001142533:exon8:c.G1717A:p.E573K	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.968	D	0.000	D	1.000	D	2.265	M	2.27	T	-0.738	T	0.210	T	0.838	5.144	32	5.8	2.733	7.749	19.030	0.316	0.0479629383111	7.7e-05	.	8.274e-05	0	0	0	0	4.517e-05	0	0.0004	7.12e-05	11	154602	rs144265648	3.216e-05	3.215e-05	1.362e-05	5.089e-05	0.0004	2.478e-05	2.221e-05	0.0003	0.0003	0	0	0	0	0	0.0002	6.297e-06	1.656e-05	0.0004	1.971e-05	1.97e-05	1.284e-05	2.69e-05	0.0004	5.24e-06	2.45e-06	7.287e-05	3.028e-05	0	0	6.543e-05	0	0	0	0	0	0	0.0004	0.004	0.72154	D	0.005	0.72224	D	0.993	0.90584	D	0.715	0.71741	P	0.000000	0.84330	D	0.043738	1	0.81001	D	2.795	0.81503	M	2.18	0.31731	T	-3.2	0.68412	D	0.743	0.84194	-0.7383	0.58540	T	0.210	0.56959	T	10	0.5904273	0.66348	D	0.047963	0.63161	D	0.316	0.63799	.	.	0.911683614956	0.91080	0.33571968376306627	0.33484	1.30456342951	0.83096	0.740375161171	0.73028	T	0.47192	0.80441	T	-0.0348867	0.46703	T	0.0340775	0.72543	D	0.766056478023529	0.44205	D	0.988501	0.96633	D	0.74437475	0.80544	0.58879983	0.76146	0.74437475	0.80545	0.58879983	0.76147	-14.077	0.93543	D	.	.	0.263	0.51968	B	.;.;.;.;.;.	.;.;.;.;.;.	5.464792	0.91203	32	0.99899698162587469	0.97199	0.99567	0.97521	D	AEFDGBIJ	0.968034	0.99051	D	0.803298215624598	0.86311	8.844998	0.809853739175952	0.90471	10.42202	1.0	0.98316	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	5.8	5.8	0.92081	7.835000	0.84986	7.664000	0.64404	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:1.0:0.0:0.0	19.030	0.92933	289	0.88525	.;.;.;.;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1111.98	35	chr9	127740267	.	C	T	1111.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.110;DP=812;ExcessHet=0.0000;FS=3.692;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=-5.000e-01;SOR=1.094	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1404	20	0	1	0
chr9	127741889	127741889	C	T	exonic	SH2D3C	.	nonsynonymous SNV	SH2D3C:NM_001142533:exon7:c.G1513A:p.A505T	.	.	426	1095	1	0	0	1	0.000456413	.	.	3317862	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.861	P	0.313	B	0.000	D	1.000	D	1.59	L	1.59	T	-1.083	T	0.075	T	0.473	3.815	19.37	4.98	2.808	1.362	14.675	0.115	0.0111207979664	.	.	0.0004	0	0	0	0	0.0007	0	0	0.0003169	49	154602	rs145622720	0.0003	0.0003	0.0003	0.0003	0.0023	0.0003	0.0003	0.0013	0.0011	0.0001	0.0001	0.0100	0	0	0.0023	0.0001	0.0008	0	0.0003	0.0003	0.0004	0.0003	0.0001	0.0002	0.0002	3.761e-05	2.575e-05	9.644e-05	0	0.0001	0.0098	0	0	0	8.818e-05	0.0010	0	0.041	0.47745	D	0.184	0.31125	T	0.119	0.47410	B	0.041	0.41496	B	0.000000	0.84330	D	0.045481	0.999997	0.81001	D	1.565	0.39561	L	1.59	0.30669	T	-2.26	0.53096	N	0.473	0.51137	-1.0832	0.06739	T	0.075	0.30086	T	10	0.011278659	0.00247	T	0.011121	0.28415	T	0.115	0.32236	0.27	0.21893	0.761076953471	0.75890	0.29297780800550444	0.29210	0.559626915364	0.52497	0.582536101341	0.50442	T	0.211533	0.57232	T	-0.279252	0.10748	T	-0.379224	0.35814	T	0.0465358572572639	0.04881	T	0.889211	0.62362	D	0.3475117	0.56873	0.24440981	0.49906	0.3475117	0.56873	0.24440981	0.49905	-8.32	0.65300	D	.	.	0.075	0.07365	B	.;.;.;.;.;.	.;.;.;.;.;.	4.191569	0.63182	24.5	0.99761494504646386	0.85091	0.74467	0.36430	D	ALL	0.417514	0.48553	N	-0.0254291017855005	0.40707	2.422042	0.0259818213624671	0.40924	2.450264	0.99999999997584	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.64067	0.45733	0	0.735409	0.98432	0	.	.	5.93	4.98	0.65679	1.408000	0.34277	4.818000	0.45095	0.596000	0.33519	0.292000	0.25252	1.000000	0.68203	0.909000	0.44452	0.1459:0.8541:0.0:0.0	14.675	0.68583	290	0.88477	.;.;.;.;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1077.98	46	chr9	127741889	.	C	T	1077.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.214e+00;DP=905;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.39;ReadPosRankSum=0.423;SOR=0.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485	20	0	1	0
chr9	127747252	127747252	G	C	exonic	SH2D3C	.	nonsynonymous SNV	SH2D3C:NM_001142533:exon4:c.C685G:p.R229G	.	.	421	1070	29	2	0	33	0.0151864	.	.	2826406	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.992	D	0.814	P	0.000	D	1.000	D	1.78	L	2.69	T	-1.095	T	0.079	T	0.652	3.794	19.26	5.34	2.504	5.195	11.814	0.076	0.0175505965479	0.0016	0.00199681	0.0022	0.0006	0.0022	0	0	0.0032	0.0045	0.0014	0.0020957	324	154602	rs61761895	0.0017	0.0017	0.0017	0.0018	0.0202	0.0017	0.0016	0.0172	0.0161	0.0007	0.0020	0.0293	5.038e-05	1.888e-05	0.0202	0.0010	0.0037	0.0015	0.0018	0.0018	0.0020	0.0016	0.0037	0.0016	0.0016	0.0029	0.0026	0.0003	0	0.0037	0.0236	0	0	0.0034	0.0016	0.0024	0.0023	0.009	0.68238	D	0.147	0.40747	T	0.99	0.63424	D	0.796	0.58006	P	0.000048	0.53742	D	0.160927	0.99997	0.58761	D	1.995	0.54099	M	2.68	0.24841	T	-2.8	0.59226	D	0.632	0.69037	-1.0951	0.04738	T	0.079	0.31435	T	10	0.0068766177	0.00156	T	0.017551	0.39293	T	0.076	0.22200	.	.	0.783685163817	0.78168	0.27980155829170095	0.27893	1.37776733009	0.84718	0.411469936371	0.26660	T	0.181966	0.53382	T	-0.307484	0.07971	T	-0.22172	0.52572	T	0.0466912335600416	0.04909	T	0.925907	0.74506	D	0.21888709	0.44408	0.22958256	0.48035	0.21888709	0.44407	0.22958256	0.48034	-5.058	0.39884	T	.	.	0.112	0.32804	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.959316	0.58061	23.9	0.99729299887713885	0.82619	0.95476	0.64872	D	AEFDGBHCI	0.879190	0.80497	D	0.497461101975698	0.66941	5.015866	0.535832682399676	0.70418	5.502297	0.999999996624715	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.779548	0.98927	0	0.711	0.71501	0	.	.	5.34	5.34	0.75982	5.473000	0.66502	7.517000	0.59705	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:0.0:0.7211:0.2789	11.814	0.51475	294	0.88270	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	968.98	39	chr9	127747252	.	G	C	968.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.960e-01;DP=804;ExcessHet=0.0000;FS=6.346;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.50;ReadPosRankSum=-7.720e-01;SOR=0.566	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1620	20	0	1	0
chr9	127749458	127749458	G	A	exonic	SH2D3C	.	nonsynonymous SNV	SH2D3C:NM_001142533:exon3:c.C418T:p.R140C	.	.	440	1076	6	0	0	6	0.00278035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	2.205	M	-2.45	D	0.758	D	0.813	D	0.771	4.147	21.4	5.67	2.686	3.509	18.749	0.663	0.165686358812	7.7e-05	0.000599042	0.0005	0	8.688e-05	0.0015	0.0005	0.0004	0.0011	0.0010	0.0004592	71	154602	rs143231219	0.0005	0.0005	0.0005	0.0006	0.0015	0.0005	0.0005	0.0012	0.0011	5.975e-05	0.0002	3.826e-05	0.0015	0.0006	0.0003	0.0005	0.0005	0.0010	0.0004	0.0004	0.0003	0.0004	0.0008	0.0003	0.0003	0.0003	0.0003	7.214e-05	0	0.0004	0	0.0008	0.0008	0	0.0005	0.0005	0.0006	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.992	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.27	0.64531	M	-2.45	0.88847	D	-5.35	0.90852	D	0.816	0.85238	0.758	0.93899	D	0.813	0.93694	D	10	0.25321773	0.42686	T	0.165686	0.84449	D	0.663	0.87430	.	.	0.983015080095	0.98283	0.6167787165247153	0.61609	1.44290572599	0.86007	0.824414730072	0.85706	D	0.897578	0.97966	D	-0.022067	0.48559	T	0.145085	0.79872	D	0.210032221588181	0.20955	T	0.970003	0.89317	D	0.40421268	0.61023	0.34372908	0.60080	0.40421268	0.61023	0.34372908	0.60079	-9.635	0.78628	D	.	.	0.517	0.72360	A	.;.;.;.;.;.	.;.;.;.;.;.	5.107732	0.85376	28.6	0.99941000744904995	0.99797	0.86738	0.46083	D	AEFBCI	0.802888	0.72818	D	0.721754069499678	0.81057	7.43431	0.699536704429389	0.82342	7.743698	0.999999999530664	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.67	5.67	0.87673	3.600000	0.53805	8.555000	0.77544	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.212000	0.22240	0.0:0.0:1.0:0.0	18.749	0.91769	295	0.88218	.;.;.;SH2 domain|SH2 domain|SH2 domain;.;SH2 domain|SH2 domain|SH2 domain|SH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2030.98	33	chr9	127749458	.	G	A	2030.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.532e+00;DP=852;ExcessHet=0.0000;FS=0.601;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.36;ReadPosRankSum=0.713;SOR=0.787	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1149	20	0	1	0
chr9	127890812	127890812	C	T	exonic	ST6GALNAC6	.	nonsynonymous SNV	ST6GALNAC6:NM_001287000:exon4:c.G427A:p.E143K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.387	B	0.388	B	0.000	D	1.000	N	1.09	L	1.82	T	-0.987	T	0.082	T	0.654	3.582	18.25	5.61	2.644	3.570	18.196	0.132	0.00887410427006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.46910	T	0.236	0.32355	T	0.387	0.34533	B	0.388	0.44086	B	0.000231	0.47286	D	0.245968	1	0.81001	D	1.42	0.35681	L	1.82	0.25018	T	-1.59	0.39119	N	0.563	0.70439	-0.9865	0.33469	T	0.082	0.32178	T	10	0.23160103	0.40137	T	0.008874	0.23390	T	0.132	0.35948	0.499	0.58991	0.37262878642	0.36876	0.693180553437494	0.69258	1.04342931365	0.75877	0.720459878445	0.70114	T	0.059046	0.31008	T	-0.0129965	0.49845	T	-0.256445	0.49178	T	0.899720788002014	0.55207	D	0.974353	0.90870	D	0.17266275	0.37970	0.1839912	0.41424	0.17266275	0.37969	0.1839912	0.41423	-8.04	0.63639	D	.	.	0.231	0.52728	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.289794	0.45108	22.1	0.99846230029536509	0.92576	0.89597	0.50163	D	AEFGBI	0.336909	0.43488	N	0.0674434909399498	0.44948	2.759751	0.162777959102058	0.47823	3.006811	0.999999990375533	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.61	5.61	0.85347	3.617000	0.53923	5.977000	0.52101	0.594000	0.32500	0.992000	0.37556	1.000000	0.68203	0.972000	0.54974	0.0:1.0:0.0:0.0	18.196	0.89756	312	0.87382	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1998.98	33	chr9	127890812	.	C	T	1998.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.830;DP=890;ExcessHet=0.0000;FS=0.539;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=0.363;SOR=0.660	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1189	20	0	1	0
chr9	128066975	128066975	C	T	exonic	NAIF1	.	nonsynonymous SNV	NAIF1:NM_197956:exon1:c.G127A:p.A43T,	.	.	414	1104	4	0	0	4	0.00180832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.031	B	0.013	B	0.000	D	1.000	D	0.41	N	.	.	-1.071	T	0.070	T	0.243	2.723	15.07	4.32	1.198	3.475	9.255	0.041	0.00509239297742	0.0026	0.000998403	0.0031	0.0008	0.0019	0	0.0006	0.0048	0.0034	0.0015	0.0032018	495	154602	rs143478210	0.0044	0.0044	0.0045	0.0044	0.0053	0.0044	0.0043	0.0052	0.0051	0.0007	0.0019	0.0007	0	0.0008	0.0021	0.0053	0.0043	0.0018	0.0025	0.0025	0.0027	0.0021	0.0041	0.0022	0.0022	0.0037	0.0036	0.0009	0	0.0022	0.0023	0	0.0005	0	0.0041	0.0028	0.0012	0.254	0.16903	T	0.276	0.21947	T	0.031	0.20130	B	0.013	0.16460	B	0.000000	0.84330	D	0.051719	0.999849	0.49770	D	0.6	0.15550	N	.	.	.	-0.52	0.16187	N	0.196	0.21580	-1.0711	0.09173	T	0.070	0.28445	T	9	0.0072960556	0.00166	T	0.005092	0.12908	T	0.041	0.10877	.	.	0.212008924253	0.20833	0.6562973301847608	0.65565	0.833681432274	0.67729	0.666677236557	0.62364	T	0.018635	0.14986	T	-0.424669	0.01598	T	-0.378639	0.35882	T	0.0591798481655424	0.07039	T	0.728927	0.34400	T	0.1776007	0.38735	0.25585455	0.51275	0.1776007	0.38734	0.25585455	0.51274	-6.186	0.47809	T	.	.	0.089	0.12371	B	.	.	3.431867	0.47700	22.5	0.99523084016120988	0.69346	0.90658	0.52018	D	AEFDGBCIJ	0.243239	0.36455	N	-0.326984694636836	0.28128	1.548838	-0.122076297032816	0.34501	1.985305	0.99999999966649	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.391439	0.06340	0	0.581474	0.35302	0	.	.	5.21	4.32	0.50899	3.535000	0.53331	5.966000	0.51911	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.752000	0.35857	0.0:0.8356:0.0:0.1644	9.255	0.36735	233	0.90919	Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1097.98	42	chr9	128066975	.	C	T	1097.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.400e-02;DP=944;ExcessHet=0.0000;FS=2.584;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.98;ReadPosRankSum=0.024;SOR=0.972	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	20	0	1	0
chr9	128101182	128101182	G	C	exonic	SLC25A25	.	nonsynonymous SNV	SLC25A25:NM_001006641:exon2:c.G348C:p.K116N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.881	P	0.593	P	0.000	D	1.000	D	2.355	M	0.89	T	-0.234	T	0.486	T	0.226	1.878	12.24	-1.27	-0.511	-0.489	13.159	0.278	0.115383419939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.17468	T	0.305	0.20486	T	0.881	0.48446	P	0.593	0.50536	P	0.000000	0.84330	D	0.087699	0.999999	0.81001	D	2.34	0.67151	M	0.89	0.80387	T	-2.66	0.59710	D	0.487	0.55886	-0.2337	0.76790	T	0.486	0.80441	T	10	0.16160071	0.30308	T	0.115383	0.79455	D	0.278	0.59497	0.591	0.71999	0.171220215726	0.16700	0.6806528368207055	0.68004	0.713815710114	0.61846	0.838614344597	0.87883	D	0.305529	0.67778	T	-0.0597631	0.42946	T	-0.323622	0.42176	T	0.529833555221558	0.33728	D	0.947505	0.80370	D	0.42320445	0.62304	0.32403204	0.58331	0.42320445	0.62305	0.32403204	0.58330	-7.747	0.73540	D	.	.	0.558	0.77574	A	.;.;.;.;.	.;.;.;.;.	1.452777	0.18743	13.90	0.98597571278657536	0.43454	0.27556	0.23311	N	AEFGBI	0.195335	0.32238	N	-0.694203406124448	0.16186	0.8224066	-0.713057584978373	0.16636	0.8809873	0.999932680091442	0.46732	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.33	-1.27	0.08863	-0.472000	0.06702	-0.668000	0.07948	-0.046000	0.17342	0.037000	0.20830	0.000000	0.08366	0.998000	0.85391	0.3502:0.0:0.6498:0.0	13.159	0.58953	231	0.90996	.;.;.;.;EF-hand domain|EF-hand domain|EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	77.14	127	chr9	128101182	.	G	C	77.14	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-5.161e+00;DP=1237;ExcessHet=0.6776;FS=115.371;InbreedingCoeff=-0.0994;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.18;ReadPosRankSum=1.27;SOR=9.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1137	17	0	4	0
chr9	128101187	128101187	G	C	exonic	SLC25A25	.	nonsynonymous SNV	SLC25A25:NM_001006641:exon2:c.G353C:p.R118T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.868	P	0.572	P	0.000	D	1.000	D	2.065	M	-0.7	T	-0.438	T	0.380	T	0.804	2.016	12.70	5.33	2.487	4.398	18.009	0.416	0.0420021043119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.19225	T	0.369	0.16522	T	0.868	0.47740	P	0.572	0.49931	P	0.000000	0.84330	D	0.041945	0.999998	0.81001	D	2.215	0.62545	M	-0.7	0.72785	T	-2.41	0.54546	N	0.667	0.67736	-0.4377	0.70807	T	0.380	0.73692	T	10	0.5000973	0.61497	D	0.042002	0.60234	D	0.416	0.72631	0.61	0.74300	0.200294437569	0.19612	0.8142011479369076	0.81376	0.978056266541	0.73627	0.778474271297	0.78698	T	0.436539	0.78289	T	0.186908	0.72678	D	0.0307039	0.72323	D	0.797435283660889	0.46180	D	0.844516	0.79334	T	0.4251696	0.62434	0.347225	0.60379	0.4251696	0.62435	0.347225	0.60379	-8.202	0.67762	D	.	.	0.415	0.76696	A	.;.;.;.;.	.;.;.;.;.	4.561538	0.71881	25.7	0.93999598795195805	0.24094	0.96966	0.71921	D	AEFGBI	0.764155	0.70104	D	0.177338735965513	0.50112	3.204398	0.295564956828609	0.55281	3.691184	0.999999882866597	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.33	5.33	0.75683	4.489000	0.60035	11.899000	0.99301	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.009	0.89140	231	0.90996	.;.;.;.;EF-hand domain|EF-hand domain|EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	139.95	128	chr9	128101187	.	G	C	139.95	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-4.915e+00;DP=1519;ExcessHet=0.6776;FS=118.667;InbreedingCoeff=-0.1057;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.34;ReadPosRankSum=0.933;SOR=9.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,17:95:68:0|1:128101187_G_C:68,0,2986:128101187	17	0	4	0
chr9	128101188	128101188	G	C	exonic	SLC25A25	.	nonsynonymous SNV	SLC25A25:NM_001006641:exon2:c.G354C:p.R118S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.868	P	0.494	P	0.000	D	1.000	D	2.41	M	-0.72	T	-0.592	T	0.312	T	0.766	2.552	14.49	2.45	1.235	0.510	8.422	0.565	0.0635115361609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0037	0.0001	0.0001	0.0002	9.968e-05	9.425e-05	0.0001	0.0001	0.0002	0	0	2.538e-05	0	0	0.0001	5.152e-05	5.882e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	0.23007	T	0.36	0.17014	T	0.868	0.47740	P	0.494	0.47478	P	0.000000	0.84330	D	0.041945	1	0.81001	D	2.27	0.64531	M	-0.72	0.72994	T	-2.2	0.50502	N	0.592	0.61172	-0.5924	0.65125	T	0.312	0.68220	T	10	0.42217892	0.56938	T	0.063512	0.68991	D	0.565	0.82232	0.611	0.74418	0.266724437049	0.26276	0.8208935264102138	0.82046	1.10394199327	0.77820	0.748741447926	0.74261	T	0.421327	0.77275	T	0.148143	0.69094	D	-0.02498	0.68702	D	0.774935901165009	0.44738	D	0.959804	0.85511	D	0.35418284	0.57390	0.3380839	0.59591	0.35418284	0.57391	0.3380839	0.59590	-7.65	0.62296	D	.	.	0.623	0.82606	P	.;.;.;.;.	.;.;.;.;.	3.414575	0.47383	22.4	0.99085328864255551	0.52075	0.94030	0.59902	D	AEFGBI	0.643967	0.62039	D	0.0999592402221534	0.46460	2.886059	0.114203922356772	0.45274	2.793509	0.999955091771372	0.48110	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.33	2.45	0.28953	0.535000	0.22822	2.384000	0.32503	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.999000	0.91618	0.3583:0.0:0.6417:0.0	8.422	0.31866	231	0.90996	.;.;.;.;EF-hand domain|EF-hand domain|EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	144.95	126	chr9	128101188	.	G	C	144.95	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-4.017e+00;DP=1773;ExcessHet=0.6776;FS=118.667;InbreedingCoeff=-0.1059;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.35;ReadPosRankSum=0.925;SOR=9.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,17:95:68:0|1:128101187_G_C:68,0,2986:128101187	17	0	4	0
chr9	128123771	128123771	C	G	exonic	PTGES2	.	nonsynonymous SNV	PTGES2:NM_025072:exon4:c.G617C:p.G206A	.	.	405	1100	17	0	0	17	0.00766802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.018	B	0.005	B	0.001	N	0.742	N	0.84	L	2.7	T	-1.031	T	0.046	T	0.368	0.886	8.598	4.94	1.485	1.134	9.317	0.052	0.00599272293728	0.0051	0.00279553	0.0047	0.0013	0.0027	0	0.0009	0.0071	0.0022	0.0030	0.0048447	749	154602	rs149102151	0.0064	0.0064	0.0065	0.0064	0.0085	0.0063	0.0063	0.0066	0.0065	0.0011	0.0032	0.0327	0	0.0012	0.0085	0.0067	0.0084	0.0036	0.0048	0.0048	0.0052	0.0044	0.0064	0.0045	0.0044	0.0059	0.0057	0.0014	0	0.0051	0.0317	0	0.0014	0.0136	0.0064	0.0090	0.0023	0.542	0.07354	T	0.618	0.07493	T	0.018	0.17786	B	0.005	0.11217	B	0.001045	0.40475	N	0.329789	0.742268	0.29722	N	0.9	0.23182	L	2.7	0.39781	T	0.71	0.03352	N	0.245	0.27673	-1.0309	0.20163	T	0.046	0.19640	T	10	0.005123049	0.00111	T	0.005993	0.15638	T	0.052	0.14661	.	.	0.358134431457	0.35428	0.5038510835586986	0.50307	0.237924470368	0.26341	0.355472207069	0.18725	T	0.034972	0.23533	T	-0.453745	0.01073	T	-0.419703	0.31110	T	0.00533943184983495	0.00058	T	0.837116	0.50934	T	0.035751317	0.04267	0.06821036	0.14213	0.035751317	0.04267	0.06821036	0.14213	-3.675	0.18950	T	.	.	0.114	0.25882	B	.;.;.;.	.;.;.;.	2.349446	0.30116	18.34	0.84836035895987727	0.15526	0.95598	0.65363	D	AEFGBI	0.463874	0.51260	N	-0.379033374062348	0.26217	1.429172	-0.186918404973702	0.32016	1.817394	0.99999882638664	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.84	4.94	0.64645	1.164000	0.31420	4.902000	0.45868	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.779:0.0:0.221	9.317	0.37101	243	0.90483	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	877.98	38	chr9	128123771	.	C	G	877.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.991e+00;DP=792;ExcessHet=0.0000;FS=5.586;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.21;ReadPosRankSum=0.226;SOR=1.327	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,120,1246	20	0	1	0
chr9	128160439	128160439	C	T	exonic	C9orf16	.	nonsynonymous SNV	C9orf16:NM_024112:exon1:c.C32T:p.P11L,	.	.	411	1105	6	0	0	6	0.00270758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.75	P	0.209	B	0.052	N	0.995	D	.	.	.	.	-0.892	T	0.126	T	0.229	3.898	19.82	4.44	2.212	3.418	14.226	0.090	.	.	0.00698882	0.0032	0	0	0	0	0	0	0.0507	0.0008085	125	154602	rs551654104	0.0008	0.0014	0.0006	0.0011	0.0294	0.0008	0.0008	0.0277	0.0270	0.0003	0	6.798e-05	3.744e-05	0	0.0004	4.081e-05	0.0017	0.0294	0.0011	0.0011	0.0005	0.0017	0.0313	0.0010	0.0009	0.0272	0.0257	9.736e-05	0	6.565e-05	0	0	0	0	8.88e-05	0.0024	0.0313	0.037	0.43085	D	0.038	0.51421	D	0.75	0.43260	P	0.209	0.37260	B	0.052170	0.22917	N	0.481200	0.995354	0.42654	D	.	.	.	.	.	.	-1.92	0.44657	N	0.171	0.18239	-0.8925	0.48713	T	0.126	0.43194	T	8	0.0040905476	0.00080	T	.	.	.	0.090	0.26093	.	.	0.60055981612	0.59737	0.2264859104552806	0.22563	0.325170258778	0.34672	.	.	.	0.098437	0.40225	T	-0.436981	0.01347	T	-0.376785	0.36099	T	0.184209523570935	0.19496	T	0.624238	0.24084	T	0.13479726	0.31306	0.24934435	0.50503	0.13479726	0.31306	0.24934435	0.50502	-4.377	0.29244	T	.	.	0.142	0.31253	B	.	.	3.245128	0.44319	21.9	0.99376308088762022	0.61671	0.94881	0.62654	D	ALL	0.507225	0.53762	D	0.211197533115964	0.51741	3.353018	0.270208120174619	0.53809	3.547983	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.44	4.44	0.53164	1.934000	0.39793	3.031000	0.36042	0.594000	0.32500	0.959000	0.33545	1.000000	0.68203	0.982000	0.59238	0.0:1.0:0.0:0.0	14.226	0.65400	422	0.81333	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	413.98	33	chr9	128160439	.	C	T	413.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=751;ExcessHet=0.0000;FS=2.322;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.26;ReadPosRankSum=-1.320e-01;SOR=1.085	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,948	20	0	1	0
chr9	128178957	128178957	C	A	exonic	CIZ1	.	nonsynonymous SNV	CIZ1:NM_001257976:exon7:c.G947T:p.R316M	.	.	419	1098	5	0	0	5	0.00227169	.	.	2091102	Dystonic_disorder	Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.799	P	0.299	B	0.235	N	0.981	N	0	N	2.03	T	-1.082	T	0.034	T	0.218	2.041	12.78	-3.2	-0.645	-1.683	4.105	0.025	0.00795204537458	7.7e-05	0.000199681	0.0002	0	8.637e-05	0	0	2.997e-05	0	0.0012	0.0001552	24	154602	rs200695614	0.0001	0.0001	8.442e-05	0.0001	0.0012	9.095e-05	8.601e-05	0.0007	0.0006	0	8.944e-05	0	0	0	0.0012	5.126e-05	0.0002	0.0008	5.257e-05	5.251e-05	3.857e-05	6.721e-05	0.0006	2.557e-05	1.83e-05	0.0002	9.003e-05	0	0	0	0	0	0	0	7.354e-05	0	0.0006	0.126	0.29158	T	0.13	0.41573	T	0.553	0.38185	P	0.157	0.34536	B	0.234629	0.03542	N	1.566530	0.980789	0.39704	D	1.1	0.28011	L	1.45	0.32482	T	-0.78	0.23156	N	0.231	0.25989	-1.0820	0.06965	T	0.034	0.14509	T	9	0.013218194	0.00281	T	0.007952	0.21084	T	0.025	0.05312	.	.	0.285775778912	0.28195	0.20896885165519433	0.20812	.	.	0.284954488277	0.08193	T	0.012513	0.10987	T	-0.542285	0.00325	T	-0.602172	0.12629	T	0.0155556045949235	0.00353	T	0.386661	0.14792	T	0.0342271	0.03801	0.027999382	0.00997	0.0342271	0.03800	0.027999382	0.00996	-7.935	0.60626	D	.	.	0.219	0.54768	B	.;.;.;.;.	.;.;.;.;.	0.626643	0.09948	6.707	0.90496951834362671	0.19754	0.02997	0.07858	N	AEFBHCI	0.082804	0.16769	N	-1.23860999102059	0.04451	0.2009416	-1.35117174905521	0.03792	0.177613	0.999997801350211	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.12	-3.2	0.04838	-0.580000	0.05920	-1.763000	0.04771	-0.313000	0.06017	0.000000	0.06391	0.000000	0.08366	0.063000	0.16184	0.2567:0.2993:0.0:0.4441	4.105	0.09504	448	0.79501	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1768.98	41	chr9	128178957	.	C	A	1768.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.190e-01;DP=866;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.50;ReadPosRankSum=0.190;SOR=0.743	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1478	20	0	1	0
chr9	128190801	128190801	-	TGCTGGAGCTGCTGCTGCTGT	exonic	CIZ1	.	nonframeshift insertion	CIZ1:NM_001131015:exon2:c.56_57insACAGCAGCAGCAGCTCCAGCA:p.Q19_L20insQQQQLQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	5.758e-06	6.842e-06	5.684e-06	5.834e-06	1.265e-05	2.48e-06	1.79e-06	2e-06	1.32e-06	0	0	0	0	0	0	5.573e-06	1.733e-05	1.265e-05	1.315e-05	1.313e-05	0	2.689e-05	0.0002	2.18e-06	8.2e-07	.	.	2.409e-05	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	315.94	33	chr9	128190801	.	C	CTGCTGGAGCTGCTGCTGCTGT	315.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.62;DP=717;ExcessHet=0.0000;FS=3.741;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.16;ReadPosRankSum=0.00;SOR=1.349	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1080	20	0	1	0
chr9	128222504	128222504	G	C	exonic	DNM1	.	unknown	UNKNOWN,	Epileptic encephalopathy, early infantile, 31, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4	H	-2.56	D	1.036	D	0.888	D	0.899	4.936	28.6	5.13	1.564	9.869	15.508	0.864	0.574462998864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.68	0.94442	H	-2.56	0.89627	D	-7.01	0.93764	D	0.911	0.92784	1.036	0.97824	D	0.888	0.96288	D	10	0.97896105	0.97796	D	0.574463	0.96164	D	0.864	0.95876	0.901	0.97816	0.930743127106	0.93003	0.976113879073737	0.97601	2.5862836791	0.98110	0.913561940193	0.97795	D	0.899489	0.98018	D	0.481517	0.93753	D	0.453889	0.93674	D	0.999663472175598	0.98390	D	0.999394	0.99801	D	0.9834653	0.99363	0.9655975	0.99260	0.9834653	0.99363	0.9655975	0.99261	-12.838	0.89438	D	0.8940218923530909	0.94775	1.0	0.99952	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.506691	0.91640	32	0.99932305527895715	0.99439	0.99372	0.95168	D	AEFBI	0.971932	0.99388	D	1.01847129112068	0.96286	14.51336	0.929562508321978	0.96736	15.07807	0.999999999843717	0.74766	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	6.03	5.13	0.69729	10.003000	0.99689	11.838000	0.97738	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0662:0.0:0.9338:0.0	15.508	0.75490	309	0.87553	Dynamin central domain;.;.;.;Dynamin central domain;.;Dynamin central domain;.;Dynamin central domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	129.33	63	chr9	128222504	.	G	C	129.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-3.281e+00;DP=1538;ExcessHet=0.0000;FS=278.617;InbreedingCoeff=-0.0374;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=0.95;ReadPosRankSum=2.20;SOR=8.525	GT:AD:DP:GQ:PL	0/0:105,0:105:70:0,70,2598	19	0	1	1
chr9	128246429	128246429	C	T	exonic	DNM1	.	unknown	UNKNOWN,	Epileptic encephalopathy, early infantile, 31, Autosomal dominant	.	365	1146	11	0	0	11	0.00477638	.	.	372170	Inborn_genetic_diseases|not_provided|Developmental_and_epileptic_encephalopathy,_31A	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0014598,MedGen:C4225357,OMIM:616346,Orphanet:2382	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0003	0	0.0004	0	0	0.0003	0	0.0004	0.0002264	35	154602	rs145318071	0.0003	0.0003	0.0002	0.0003	0.0071	0.0002	0.0002	0.0054	0.0048	0.0001	0.0006	0.0005	2.519e-05	0	0.0071	0.0002	0.0006	0.0007	0.0004	0.0004	0.0004	0.0005	0.0015	0.0003	0.0003	0.0010	0.0009	0.0001	0	0.0015	0	0	0	0.0034	0.0004	0.0028	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	1101.98	34	chr9	128246429	.	C	T	1101.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.126;DP=822;ExcessHet=0.0000;FS=3.210;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.41;ReadPosRankSum=0.125;SOR=0.469	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1094	20	0	1	0
chr9	128258520	128258522	CCT	-	exonic	GOLGA2	.	nonframeshift deletion	GOLGA2:NM_001366246:exon21:c.2105_2107del:p.E703del	.	.	334	916	219	43	10	315	0.142723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	6196.26	36	chr9	128258516	.	GCCTCCT	GCCT,G	6196.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-2.320e-01;DP=932;ExcessHet=1.7912;FS=2.196;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=16.57;ReadPosRankSum=0.432;SOR=0.574	GT:AD:DP:GQ:PL	0/0:36,0,0:36:99:0,102,1112,102,1112,1112	15	0	5	0
chr9	128309577	128309577	C	G	exonic	TRUB2	.	nonsynonymous SNV	TRUB2:NM_001329861:exon7:c.G837C:p.L279F	.	.	428	1081	13	0	0	13	0.00597701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.001	B	0.003	N	1.000	N	1.79	L	1.99	T	-1.051	T	0.034	T	0.113	1.557	11.16	-0.679	0.163	-0.006	2.805	0.021	0.00372675769123	0.0049	0.00219649	0.0044	0.0002	0.0018	0	0.0026	0.0063	0.0045	0.0045	0.0042043	650	154602	rs41313867	0.0042	0.0042	0.0041	0.0043	0.0051	0.0041	0.0041	0.0047	0.0046	0.0004	0.0019	0.0119	0	0.0019	0.0037	0.0045	0.0036	0.0051	0.0036	0.0036	0.0040	0.0031	0.0060	0.0033	0.0032	0.0055	0.0053	0.0005	0.0143	0.0018	0.0124	0	0.0017	0	0.0060	0.0024	0.0029	0.052	0.39097	T	0.373	0.16328	T	0.0	0.02946	B	0.001	0.04355	B	0.003016	0.00932	N	2.679800	1	0.08975	N	2.48	0.72069	M	1.98	0.21865	T	-0.39	0.13611	N	0.067	0.03956	-1.0514	0.14009	T	0.034	0.14769	T	10	0.0036183894	0.00066	T	0.003727	0.08651	T	0.021	0.04004	0.272	0.22210	0.0716867268079	0.06686	0.3212666388179627	0.32039	0.269552850117	0.29473	0.259672522545	0.04852	T	0.003222	0.02626	T	-0.632672	0.00092	T	-0.679647	0.07004	T	0.0107828835606038	0.00153	T	0.328467	0.06836	T	0.027070815	0.01847	0.040879674	0.04519	0.027070815	0.01847	0.040879674	0.04519	-5.694	0.43640	T	.	.	0.072	0.04080	B	.	.	0.585075	0.09533	6.312	0.93972092228287973	0.24048	0.21509	0.21427	N	AEFDBCI	0.113309	0.22362	N	-1.10502060093124	0.06553	0.3019917	-1.16490163202437	0.06504	0.3133079	0.999998224848817	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.99	-0.679	0.10779	-0.175000	0.09816	0.036000	0.13800	-0.223000	0.07921	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3316:0.3005:0.0:0.3679	2.805	0.05093	315	0.87208	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	594.98	41	chr9	128309577	.	C	G	594.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.982e+00;DP=753;ExcessHet=0.0000;FS=3.785;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.44;ReadPosRankSum=0.153;SOR=1.369	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1173	20	0	1	0
chr9	128332174	128332174	G	A	exonic	COQ4	.	nonsynonymous SNV	COQ4:NM_016035:exon5:c.G424A:p.A142T,	Coenzyme Q10 deficiency, primary, 7, Autosomal recessive	.	420	1061	38	3	0	44	0.0203139	.	.	370324	not_provided|not_specified|Neonatal_encephalomyopathy-cardiomyopathy-respiratory_distress_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0014562,MedGen:C5568562,OMIM:616276,Orphanet:457185	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.57	T	0.982	D	0.767	P	0.001	D	0.506	N	1.905	M	0.88	T	-0.836	T	0.143	T	0.102	2.321	13.72	5.85	2.771	4.765	6.675	0.163	.	0.0025	0.0091853	0.0172	0.0019	0.0035	0.0006	0.0017	0.0106	0.0076	0.0416	0.0060543	936	154602	rs34043652	0.0057	0.0057	0.0048	0.0066	0.0331	0.0056	0.0055	0.0321	0.0317	0.0012	0.0016	0.0021	5.274e-05	0.0004	0.0148	0.0044	0.0055	0.0331	0.0037	0.0037	0.0033	0.0042	0.0334	0.0035	0.0033	0.0292	0.0276	0.0008	0	0.0024	0.0035	0	0.0003	0.0136	0.0045	0.0033	0.0334	0.449	0.09022	T	0.511	0.10785	T	0.982	0.60036	D	0.767	0.56720	P	0.000670	0.42516	D	0.267657	0.999905	0.19694	N	2.26	0.64354	M	0.88	0.46028	T	-1.28	0.32185	N	0.233	0.26233	-0.8356	0.52937	T	0.143	0.46459	T	10	0.007909	0.00179	T	.	.	.	0.163	0.42028	.	.	0.589665606642	0.58642	0.4398756359911274	0.43904	0.611868390324	0.55801	0.373806595802	0.21377	T	0.165191	0.51094	T	-0.558499	0.00259	T	-0.550647	0.17265	T	0.0325917881327479	0.02404	T	0.909609	0.68017	D	0.05415084	0.10350	0.077319644	0.17210	0.050297037	0.09065	0.06649144	0.13626	-4.972	0.36534	T	0.20917695901469	0.27996	0.101	0.17700	B	.	.	3.856571	0.55900	23.7	0.99394376498206649	0.62474	0.66322	0.33038	D	AEFDBCI	0.410087	0.48110	N	0.502736449469989	0.67250	5.056811	0.524640981072112	0.69652	5.391109	0.999945172294767	0.47345	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.85	5.85	0.93663	4.850000	0.62587	6.780000	0.56581	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.855000	0.40485	0.1447:0.1546:0.7007:0.0	6.675	0.22281	329	0.86514	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	499.98	43	chr9	128332174	.	G	A	499.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.472;DP=715;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=0.317;SOR=0.636	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,997	20	0	1	0
chr9	128434150	128434150	C	T	exonic	CERCAM	.	nonsynonymous SNV	CERCAM:NM_001286760:exon10:c.C1018T:p.R340C	.	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.485	M	-1.24	T	0.400	D	0.660	D	0.888	5.986	37	5.74	2.700	7.704	18.478	0.879	0.105487546978	0.0014	0.00119808	0.0014	0.0004	0.0003	0	0.0003	0.0019	0	0.0018	0.001326	205	154602	rs148628855	0.0017	0.0017	0.0017	0.0017	0.0019	0.0017	0.0016	0.0019	0.0018	0.0002	0.0003	0.0028	2.519e-05	0.0005	0.0005	0.0019	0.0013	0.0018	0.0012	0.0012	0.0011	0.0013	0.0019	0.0010	0.0010	0.0016	0.0015	0.0003	0	0.0003	0.0029	0.0002	0.0007	0	0.0019	0.0005	0.0019	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.6	0.93737	H	-1.24	0.79176	T	-7.36	0.95015	D	0.867	0.87373	0.400	0.89097	D	0.660	0.88182	D	10	0.27764398	0.45331	T	0.105488	0.78062	D	0.879	0.96428	.	.	0.946194134927	0.94562	0.8704118528064804	0.87007	0.66027642863	0.58860	0.599453687668	0.52827	T	0.145682	0.52535	T	0.0907332	0.63272	D	0.352318	0.90410	D	0.16221044505934	0.18033	T	0.99555	0.98441	D	0.80662143	0.84332	0.6788367	0.81133	0.80662143	0.84334	0.6788367	0.81134	-11.186	0.80984	D	.	.	0.134	0.43241	B	.;.;.	.;.;.	5.455528	0.91101	32	0.99941826544437318	0.99824	0.99489	0.96653	D	AEFDGBI	0.955885	0.97403	D	0.908383896896255	0.92164	11.26876	0.884541067951777	0.94863	13.10587	0.999999999999821	0.74766	0.634777	0.41761	0	0.670034	0.63936	0	0.645312	0.48771	0	0.645665	0.59343	0	.	.	5.74	5.74	0.90070	7.812000	0.84643	5.942000	0.51497	0.591000	0.32079	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:1.0:0.0:0.0	18.478	0.90747	381	0.83684	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1075.98	35	chr9	128434150	.	C	T	1075.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.520e-01;DP=896;ExcessHet=0.0000;FS=2.307;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.68;ReadPosRankSum=-2.270e-01;SOR=0.495	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1232	20	0	1	0
chr9	128456176	128456176	C	T	exonic	ODF2	.	nonsynonymous SNV	ODF2:NM_001351577:exon1:c.C85T:p.R29C	.	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	D	0.345	N	0.8	T	-0.888	T	0.122	T	0.377	5.230	33	4.83	2.494	3.786	14.769	0.063	0.10249150954	.	0.000199681	0.0016	0	0.0052	0	0	0	0.0067	0.0026	0.0001876	29	154602	rs565971283	0.0004	0.0004	0.0003	0.0005	0.0031	0.0004	0.0003	0.0019	0.0018	0.0003	0.0004	0	0	0	0.0031	0.0003	0.0008	0.0022	0.0003	0.0003	0.0002	0.0004	0.0031	0.0002	0.0002	0.0019	0.0015	0.0001	0	0.0007	0	0	0	0	0.0002	0.0019	0.0031	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.918408	0.81001	D	.	.	.	0.8	0.48769	T	-0.35	0.12847	N	0.474	0.50958	-0.8885	0.49063	T	0.122	0.42378	T	7	0.011974424	0.00259	T	0.102492	0.77598	D	0.063	0.18251	.	.	0.527404433557	0.52387	.	.	.	.	0.899554729462	0.96391	D	.	.	.	-0.383667	0.02953	T	-0.330054	0.41462	T	0.0923937469964991	0.11498	T	0.783522	0.42019	T	.	.	.	.	.	.	.	.	-4.879	0.35498	T	.	.	0.418	0.60587	A	.	.	5.272552	0.88533	29.6	0.99898367832188029	0.97048	0.93684	0.58897	D	ALL	0.661332	0.63159	D	0.224936906791173	0.52410	3.415333	0.330911783921956	0.57362	3.901868	1.0	0.98316	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.372554	0.06265	0	.	.	4.83	4.83	0.61880	1.073000	0.30302	4.623000	0.44084	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	14.769	0.69280	420	0.81451	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	802.98	33	chr9	128456176	.	C	T	802.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.800e-02;DP=792;ExcessHet=0.0000;FS=1.955;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=0.587;SOR=0.771	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1225	20	0	1	0
chr9	128580928	128580928	G	A	exonic	SPTAN1	.	nonsynonymous SNV	SPTAN1:NM_001130438:exon11:c.G1330A:p.V444I	Epileptic encephalopathy, early infantile, 5, Autosomal dominant	.	1	1511	10	0	0	10	0.00329815	.	.	142972	not_provided|Developmental_and_epileptic_encephalopathy,_5|Abnormal_brain_morphology|not_specified|Early_infantile_epileptic_encephalopathy_with_suppression_bursts|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0013277,MedGen:C3150731,OMIM:613477,Orphanet:3451|Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085|MedGen:CN169374|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350,Orphanet:1934|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.26	T	0.001	B	0.002	B	0.010	N	1.000	N	-0.815	N	0.99	T	-1.051	T	0.007	T	0.057	1.695	11.63	-10.9	-2.476	-0.086	11.043	0.038	.	0.0006	0.0175719	0.0057	0.0012	0.0004	0.0319	0.0002	0.0005	0.0055	0.0214	0.0055562	859	154602	rs77358650	0.0032	0.0032	0.0027	0.0036	0.0535	0.0031	0.0030	0.0516	0.0508	0.0006	0.0003	0.0051	0.0535	0.0002	0.0022	0.0002	0.0049	0.0208	0.0028	0.0028	0.0024	0.0033	0.0404	0.0026	0.0025	0.0359	0.0342	0.0008	0	0.0005	0.0052	0.0404	0.0008	0	0.0002	0.0038	0.0282	0.662	0.04671	T	0.351	0.17696	T	0.001	0.07471	B	0.002	0.06944	B	0.009771	0.30209	N	0.393126	0.999996	0.08975	N	-0.895	0.01383	N	0.99	0.41750	T	-0.23	0.10656	N	0.516	0.70088	-1.0511	0.14092	T	0.007	0.02399	T	10	0.004676819	0.00098	T	.	.	.	0.038	0.09825	.	.	0.174091166621	0.17034	0.016972097653269753	0.01652	0.628620718257	0.56926	0.255690217018	0.04390	T	0.096274	0.39791	T	-0.707746	0.00033	T	-0.730225	0.04317	T	0.00338244659215461	0.00036	T	0.585341	0.23144	T	0.014711739	0.00105	0.018264022	0.00051	0.01714626	0.00249	0.018264022	0.00051	-4.642	0.32695	T	0.07938388736598764	0.03903	0.055	0.02829	B	.;.;.;.;.	.;.;.;.;.	-1.177373	0.00554	0.013	0.83355399288906362	0.14681	0.02970	0.07813	N	AEFDGBI	0.042089	0.06485	N	-1.75005579950235	0.00679	0.02930672	-1.78069534397863	0.00823	0.0367562	0.999999968848184	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.47	-10.9	0.00151	-0.089000	0.11146	-4.922000	0.01925	-0.690000	0.04136	0.000000	0.06391	0.000000	0.08366	0.403000	0.26849	0.4153:0.0997:0.485:0.0	11.043	0.47057	0	0.99858	.;.;.;.;.	.	.	.	.	rs77358650	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	3856.98	39	chr9	128580928	.	G	A	3856.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.587;DP=1053;ExcessHet=0.0000;FS=2.389;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.02;ReadPosRankSum=0.688;SOR=0.575	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr9	128583835	128583835	G	A	exonic	SPTAN1	.	nonsynonymous SNV	SPTAN1:NM_001130438:exon16:c.G2059A:p.V687I	Epileptic encephalopathy, early infantile, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.967	D	0.97	D	0.000	D	1.000	D	0.915	L	0.73	T	-0.873	T	0.209	T	0.331	4.691	26.0	5.7	2.692	9.476	18.819	0.199	0.0138222433887	.	.	.	.	.	.	.	.	.	.	.	.	.	rs975797010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	0.15930	T	0.299	0.20680	T	0.169	0.53992	B	0.124	0.64641	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	0.115	0.08564	N	0.73	0.50721	T	-0.56	0.17003	N	0.435	0.52475	-0.8729	0.50310	T	0.209	0.56839	T	10	0.25872904	0.43303	T	0.013822	0.33509	T	0.199	0.48268	0.547	0.66156	0.450326921165	0.44653	0.2918894418387658	0.29101	0.887394481255	0.70061	0.69676887989	0.66677	T	0.118187	0.43882	T	-0.0820273	0.39386	T	-0.355603	0.38561	T	0.679796874523163	0.39779	D	0.958604	0.84374	D	0.107062325	0.25316	0.13466243	0.32263	0.107062325	0.25315	0.13466243	0.32262	-5.221	0.39155	T	0.11927866035394692	0.11095	0.134	0.36947	B	.;.;.;.;.	.;.;.;.;.	4.338629	0.66545	25.0	0.99864268289892355	0.94276	0.99334	0.94646	D	AEFBI	0.885612	0.81628	D	0.506921484805442	0.67499	5.089699	0.606704373934405	0.75427	6.308375	0.999999999991163	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.7	5.7	0.88690	9.602000	0.97623	11.919000	0.99774	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.819	0.92054	0	0.99858	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1700.98	34	chr9	128583835	.	G	A	1700.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.267e+00;DP=852;ExcessHet=0.0000;FS=7.421;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.73;ReadPosRankSum=-1.240e+00;SOR=0.330	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1364	20	0	1	0
chr9	128634748	128634748	C	G	exonic	DYNC2I2	.	nonsynonymous SNV	DYNC2I2:NM_052844:exon7:c.G1155C:p.Q385H,	.	.	.	.	.	.	.	.	.	.	.	2111050	Short-rib_thoracic_dysplasia_11_with_or_without_polydactyly|Inborn_genetic_diseases	MONDO:MONDO:0014287,MedGen:C3810200,OMIM:615633,Orphanet:474,Orphanet:93271|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.848	P	0.722	P	0.033	N	0.801	D	0.69	N	-0.12	T	-0.643	T	0.200	T	0.238	2.674	14.90	3.34	1.170	0.505	8.416	0.123	0.0648282193291	0.0002	.	0.0002	0	0	0	0	0.0004	0	0	8.41e-05	13	154602	rs138263531	4.344e-05	4.378e-05	3.974e-05	4.72e-05	0.0003	3.47e-05	3.154e-05	6.115e-05	2.53e-05	0	9.383e-05	0.0015	0	0	0.0003	7.227e-06	0.0002	0	5.911e-05	5.91e-05	3.853e-05	8.066e-05	0.0001	3.076e-05	2.209e-05	2.26e-05	9.07e-06	0	0	0.0001	0.0020	0	0	0	0	0	0	0.044	0.41096	D	0.12	0.35970	T	0.848	0.46844	P	0.722	0.54942	P	0.033298	0.24917	N	0.435352	0.800986	0.34511	D	0.895	0.22405	L	-0.12	0.64630	T	-1.64	0.39314	N	0.444	0.48227	-0.6431	0.63013	T	0.200	0.55541	T	10	0.07377285	0.11190	T	0.064828	0.69397	D	0.123	0.34020	0.434	0.48500	0.575045364607	0.57173	0.3960049347675737	0.39515	0.312824787372	0.33584	0.340353131294	0.16491	T	0.052151	0.29079	T	-0.223371	0.17535	T	-0.377723	0.35988	T	0.0878588128712742	0.10962	T	0.854315	0.54093	D	0.1550096	0.35054	0.110810064	0.26722	0.1550096	0.35054	0.110810064	0.26721	-6.43	0.49744	T	.	.	0.204	0.42920	B	.	.	2.648445	0.34475	19.64	0.99569685253584017	0.72318	0.63718	0.32177	D	AEFDGBCI	0.248822	0.36916	N	0.0595895887776379	0.44585	2.729837	0.0612501213379191	0.42620	2.580985	0.999999918663517	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.24	3.34	0.37357	0.532000	0.22776	-0.067000	0.12346	0.524000	0.24156	0.998000	0.41325	0.570000	0.25566	0.787000	0.37188	0.0:0.7294:0.1296:0.141	8.416	0.31831	398	0.82839	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1414.98	36	chr9	128634748	.	C	G	1414.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.14;DP=818;ExcessHet=0.0000;FS=3.473;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=-2.100e-01;SOR=1.022	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1498	20	0	1	0
chr9	128634837	128634837	C	T	exonic	DYNC2I2	.	nonsynonymous SNV	DYNC2I2:NM_052844:exon7:c.G1066A:p.G356S,	.	.	415	1082	24	1	0	26	0.0118721	.	.	458911	not_provided|DYNC2I2-related_disorder|Short-rib_thoracic_dysplasia_11_with_or_without_polydactyly	MedGen:C3661900|.|MONDO:MONDO:0014287,MedGen:C3810200,OMIM:615633,Orphanet:474,Orphanet:93271	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.35	T	0.402	B	0.119	B	0.000	D	1.000	D	1.91	M	1.65	T	-1.085	T	0.061	T	0.855	3.786	19.22	5.24	2.448	5.565	17.824	0.183	0.111733181486	0.0028	0.00339457	0.0044	0.0005	0.0064	0	0.0006	0.0046	0.0050	0.0077	0.0036998	572	154602	rs17849504	0.0029	0.0030	0.0026	0.0033	0.0083	0.0029	0.0028	0.0078	0.0076	0.0004	0.0043	0.0083	5.039e-05	0.0015	0.0080	0.0025	0.0039	0.0083	0.0027	0.0027	0.0027	0.0026	0.0079	0.0024	0.0024	0.0059	0.0052	0.0005	0	0.0020	0.0101	0.0004	0.0019	0.0102	0.0037	0.0024	0.0079	0.164	0.23360	T	0.187	0.28764	T	0.402	0.34891	B	0.119	0.32162	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	1.65	0.27650	T	-2.12	0.48184	N	0.635	0.64818	-1.0853	0.06353	T	0.061	0.25635	T	10	0.014472216	0.00304	T	0.111733	0.78962	D	0.183	0.45592	.	.	0.350524144436	0.34660	0.663641422864043	0.66301	0.353134030552	0.37127	0.622149705887	0.56032	T	0.057986	0.30717	T	-0.169954	0.25242	T	-0.012058	0.69550	D	0.0169857053249468	0.00448	T	0.785321	0.42297	T	0.29473332	0.52428	0.22070257	0.46855	0.29473332	0.52428	0.22070257	0.46854	-6.276	0.48532	T	.	.	0.150	0.33203	B	.	.	3.101871	0.41810	21.4	0.99747808364856505	0.84002	0.95916	0.66708	D	AEFDGBCI	0.831345	0.74990	D	0.0751261407202568	0.45305	2.789209	0.149914993195619	0.47136	2.948535	1.0	0.98316	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.24	5.24	0.72863	5.642000	0.67561	7.528000	0.59870	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.137000	0.19835	0.0:1.0:0.0:0.0	17.824	0.88570	389	0.83303	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	5394.68	36	chr9	128634837	.	C	T	5394.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.857;DP=1077;ExcessHet=0.3300;FS=0.517;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=1.16;SOR=0.664	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1498	18	0	3	0
chr9	128713184	128713184	G	A	exonic	PKN3	.	nonsynonymous SNV	PKN3:NM_001317926:exon7:c.G968A:p.R323Q	.	.	395	1125	1	0	1	2	0.000444247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.214	B	0.02	B	.	.	1.000	N	0.345	N	2.0	T	-0.991	T	0.021	T	0.126	0.489	6.655	-1.08	0.177	1.025	3.063	0.013	0.00478471824163	.	.	0.0003	0	0.0023	0	0	1.576e-05	0	0.0002	0.000194	30	154602	rs758462075	5.362e-05	5.336e-05	6.281e-05	4.43e-05	0.0013	4.365e-05	4.037e-05	0.0010	0.0009	2.999e-05	0.0013	0	0	0	0.0002	9.034e-06	1.668e-05	8.149e-05	2.627e-05	2.626e-05	0	5.377e-05	0.0002	8.14e-06	5.14e-06	5.283e-05	2.834e-05	0	0	0.0002	0	0	0	0	0	0	0.0002	0.198	0.20532	T	0.151	0.32355	T	0.214	0.30086	B	0.02	0.19048	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	2.0	0.21473	T	-0.7	0.19933	N	0.132	0.12770	-0.9906	0.32449	T	0.021	0.08963	T	9	0.00939393	0.00212	T	0.004785	0.11941	T	0.013	0.01715	0.315	0.29096	0.119812018005	0.11559	0.3125410359613213	0.31167	0.308903704434	0.33204	0.236208230257	0.02458	T	0.128668	0.45647	T	-0.586944	0.00175	T	-0.640509	0.09631	T	0.0130417247885186	0.00227	T	0.79582	0.43907	T	0.028252127	0.02134	0.04511777	0.05999	0.028252127	0.02134	0.04511777	0.05999	-4.27	0.27754	T	.	.	0.073	0.04599	B	.	.	2.535133	0.32784	19.15	0.92579421733820233	0.22036	0.41582	0.26689	N	AEFDBI	0.060144	0.11409	N	-0.859358377319942	0.11820	0.5725707	-0.853533153108518	0.13203	0.6836297	0.912491858278012	0.26397	0.712529	0.81865	0	0.694456	0.67091	0	0.635938	0.45252	0	0.635551	0.53088	0	.	.	5.24	-1.08	0.09428	0.184000	0.16748	4.004000	0.41101	0.676000	0.76740	0.005000	0.17040	0.882000	0.27718	0.624000	0.32000	0.101:0.1312:0.3676:0.4002	3.063	0.05832	0	0.99858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1318.98	34	chr9	128713184	.	G	A	1318.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.69;DP=803;ExcessHet=0.0000;FS=1.660;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=-2.920e-01;SOR=0.515	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1017	20	0	1	0
chr9	128714590	128714590	G	A	exonic	PKN3	.	nonsynonymous SNV	PKN3:NM_001317926:exon12:c.G1510A:p.G504S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.02	B	0.024	B	.	.	1.000	N	0.405	N	1.61	T	-0.987	T	0.037	T	0.129	1.223	9.962	0.612	0.122	1.027	5.368	0.021	0.00717200934169	7.7e-05	.	8.292e-06	0	0	0	0	1.51e-05	0	0	6.5e-06	1	154602	rs147486451	1.626e-05	2.413e-05	8.718e-06	2.354e-05	2.015e-05	1.04e-05	8.38e-06	1.227e-05	1.003e-05	0	0	0	0	0	0	2.015e-05	3.957e-05	0	6.576e-06	6.568e-06	0	1.346e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.53	0.07025	T	0.532	0.10034	T	0.02	0.18235	B	0.024	0.20255	B	.	.	.	.	1	0.08975	N	1.59	0.40313	L	1.61	0.28391	T	0.11	0.05706	N	0.243	0.27435	-0.9873	0.33273	T	0.037	0.15856	T	9	0.05372131	0.05609	T	0.007172	0.19006	T	0.021	0.04004	.	.	0.193865811164	0.18958	0.2653753530927664	0.26450	0.336977223862	0.35698	0.23176792264	0.02101	T	0.110347	0.42496	T	-0.336551	0.05630	T	-0.657563	0.08432	T	0.0169832097093445	0.00448	T	0.640736	0.25328	T	0.01795853	0.00319	0.03346386	0.02245	0.01795853	0.00319	0.03346386	0.02245	-3.275	0.13417	T	.	.	0.083	0.09336	B	.	.	0.751744	0.11215	7.847	0.72897294782074573	0.10135	0.52116	0.29055	D	AEFDGBI	0.085758	0.17387	N	-0.825941004341009	0.12649	0.6179337	-0.772302293976513	0.15175	0.7967977	0.853933691830853	0.25096	0.706548	0.73137	0	0.694456	0.67091	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.91	0.612	0.16768	0.044000	0.13876	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.001000	0.17328	0.328000	0.25156	0.1772:0.3417:0.4811:0.0	5.368	0.15425	0	0.99858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1114.98	38	chr9	128714590	.	G	A	1114.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.870;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=0.471;SOR=0.642	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1252	20	0	1	0
chr9	128720503	128720503	C	T	exonic	PKN3	.	nonsynonymous SNV	PKN3:NM_013355:exon22:c.C2567T:p.P856L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.075	B	0.018	B	.	.	0.993	D	2.27	M	0.36	T	-0.927	T	0.150	T	0.208	2.434	14.10	4.18	1.142	0.497	6.597	0.142	0.0438788578751	.	0.000599042	0.0002	0	0	0	0	0.0003	0	0.0001	0.0001811	28	154602	rs201035165	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	5.974e-05	4.472e-05	0	2.519e-05	1.904e-05	0	0.0003	0.0002	8.116e-05	0.0002	0.0002	0.0003	0.0001	0.0010	0.0001	0.0001	0.0004	0.0003	4.811e-05	0	0	0	0	0	0	0.0004	0	0.0010	0.164	0.23360	T	0.28	0.21678	T	0.075	0.24198	B	0.018	0.18489	B	.	.	.	.	0.993346	0.41910	D	1.53	0.38800	L	0.36	0.57880	T	-2.23	0.50012	N	0.152	0.15609	-0.9266	0.44630	T	0.150	0.47663	T	9	0.030432135	0.01170	T	0.043879	0.61206	D	0.142	0.37995	.	.	0.621786299428	0.61872	0.44100755993987345	0.44017	0.320336579067	0.34239	0.503925085068	0.39375	T	0.321285	0.69240	T	-0.369765	0.03605	T	-0.474084	0.25077	T	0.0293763023862141	0.01894	T	0.79572	0.43862	T	0.04257406	0.06480	0.07008021	0.14847	0.04257406	0.06480	0.07008021	0.14846	-8.496	0.64403	D	.	.	0.061	0.01092	B	.	.	2.120443	0.26987	17.31	0.98771394402722978	0.45971	0.39949	0.26327	N	AEFDGBCI	0.232475	0.35554	N	-0.297456983424693	0.29247	1.62018	-0.226666968484259	0.30584	1.723316	0.999998570260257	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.08	4.18	0.48473	0.397000	0.20608	2.212000	0.31376	-0.171000	0.11205	0.054000	0.21560	0.978000	0.30204	0.908000	0.44358	0.177:0.7304:0.0:0.0926	6.597	0.21871	0	0.99858	Protein kinase, C-terminal|AGC-kinase, C-terminal|AGC-kinase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	806.98	38	chr9	128720503	.	C	T	806.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.523;DP=869;ExcessHet=0.0000;FS=0.873;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.84;ReadPosRankSum=0.179;SOR=0.872	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	20	0	1	0
chr9	128721783	128721783	C	T	exonic	ZDHHC12	.	nonsynonymous SNV	ZDHHC12:NM_001318015:exon4:c.G515A:p.R172H	.	.	430	1090	2	0	0	2	0.00091659	.	.	2239316	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.218	B	0.027	B	0.045	N	0.791	N	1.235	L	1.92	T	-1.068	T	0.040	T	0.252	4.308	22.6	3.74	2.200	0.963	4.263	0.053	0.00423443741375	0.0004	.	0.0004	9.756e-05	0.0003	0	0	0.0007	0.0011	0	0.0004075	63	154602	rs146354591	0.0003	0.0003	0.0003	0.0003	0.0019	0.0003	0.0002	0.0011	0.0008	8.961e-05	0.0003	0.0038	5.038e-05	0	0.0019	0.0002	0.0004	0	0.0003	0.0003	0.0003	0.0002	0.0007	0.0002	0.0002	0.0004	0.0003	4.811e-05	0	0.0007	0.0029	0	0	0.0068	0.0002	0.0014	0	0.125	0.36509	T	0.141	0.41913	T	0.109	0.26142	B	0.015	0.17295	B	0.044823	0.23598	N	0.453294	0.790549	0.29231	N	1.52	0.38360	L	1.92	0.23082	T	-1.04	0.34198	N	0.246	0.33796	-1.0684	0.09768	T	0.040	0.17319	T	10	0.014626592	0.00307	T	0.004234	0.10216	T	0.053	0.14996	.	.	0.0762999501168	0.06990	0.42142061826271077	0.42058	0.22138815959	0.24677	0.475829809904	0.35483	T	0.005444	0.17609	T	-0.412673	0.01908	T	-0.50661	0.21663	T	0.0419776805748135	0.04050	T	0.931907	0.74605	D	0.09354279	0.21973	0.05158233	0.08329	0.09354279	0.21973	0.05158233	0.08328	-5.389	0.40813	T	.	.	0.087	0.17657	B	.;.;.;.	.;.;.;.	3.103176	0.41828	21.4	0.99937510461061574	0.99661	0.45492	0.27550	N	AEFDBCI	0.272692	0.38827	N	-0.153428428469622	0.35087	2.01107	-0.0275884260023746	0.38475	2.267224	0.99999996385771	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	4.78	3.74	0.42108	0.800000	0.26703	2.478000	0.32927	0.599000	0.40250	0.507000	0.27010	0.990000	0.31317	0.995000	0.73285	0.0:0.7029:0.0:0.2971	4.263	0.10201	0	0.99858	Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	679.98	42	chr9	128721783	.	C	T	679.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.302;DP=845;ExcessHet=0.0000;FS=2.555;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.78;ReadPosRankSum=0.088;SOR=0.946	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	20	0	1	0
chr9	128722697	128722697	C	T	exonic	ZDHHC12	.	stopgain	ZDHHC12:NM_001318015:exon2:c.G143A:p.W48X,	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	1.512	11.00	-4.93	-1.186	-1.437	6.317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.77e-06	3.42e-06	1.47e-06	6.191e-06	0.0006	1.1e-06	8e-07	0.0002	8.085e-05	0	0	0	0	0	0.0006	1.922e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.41492	0.01844	T	-0.83378	0.01197	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133357	0.05285	1.782	0.87870536221081008	0.17543	0.02336	0.06681	N	AEFDGBCI	0.018634	0.00580	N	-0.859124744958578	0.11826	0.5728891	-1.09176178057363	0.07862	0.3841401	0.999999874856822	0.74766	0.608966	0.35542	0	0.685571	0.66316	0	0.769059	0.98459	0	0.664235	0.64389	0	.	.	3.87	-4.93	0.02839	-0.881000	0.04287	.	.	0.596000	0.33519	0.000000	0.06391	.	.	0.011000	0.09372	0.6226:0.1546:0.2228:0.0	6.317	0.20406	0	0.99858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	590.98	35	chr9	128722697	.	C	T	590.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.116;DP=827;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.35;ReadPosRankSum=0.331;SOR=0.677	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr9	128797185	128797185	G	A	exonic	TBC1D13	.	nonsynonymous SNV	TBC1D13:NM_001286772:exon7:c.G514A:p.V172M	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.986	D	0.939	D	0.000	D	1.000	D	2.14	M	0.93	T	-0.620	T	0.256	T	0.798	5.260	33	5.46	2.576	9.623	18.291	0.232	0.0270463978813	.	0.000998403	0.0011	0	8.646e-05	0.0001	0	1.5e-05	0	0.0078	0.000912	141	154602	rs539585390	0.0004	0.0004	0.0002	0.0007	0.0071	0.0004	0.0004	0.0066	0.0065	0	2.236e-05	0	0.0002	0	0.0010	6.295e-06	0.0003	0.0071	0.0002	0.0002	6.426e-05	0.0003	0.0064	0.0001	0.0001	0.0047	0.0040	0	0	0	0	0	0	0	0	0	0.0064	0.009	0.59928	D	0.02	0.63109	D	0.986	0.61523	D	0.939	0.67449	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.755	0.80505	M	0.93	0.44065	T	-1.65	0.39503	N	0.693	0.79406	-0.6195	0.64009	T	0.256	0.62665	T	10	0.009771854	0.00220	T	0.027046	0.49902	D	0.232	0.53354	.	.	0.627396708286	0.62436	0.5342246975075227	0.53347	1.32366704926	0.83499	0.769004106522	0.77275	T	0.096165	0.39769	T	-0.204586	0.20147	T	-0.0618038	0.66206	T	0.137689521291688	0.16074	T	0.966353	0.87680	D	0.22065136	0.44625	0.2631841	0.52121	0.22065136	0.44625	0.2631841	0.52120	-4.208	0.28554	T	.	.	0.555	0.76533	A	.;.	.;.	4.735855	0.76327	26.5	0.9991122385928396	0.98022	0.99236	0.93238	D	AEFDGBI	0.910619	0.86878	D	0.845004885921464	0.88822	9.725112	0.835344122205263	0.92129	11.25341	0.999999999999343	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.46	5.46	0.80021	9.750000	0.98081	11.701000	0.94500	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	18.291	0.90072	780	0.47616	Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;Rab-GTPase-TBC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	753.98	34	chr9	128797185	.	G	A	753.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.060;DP=795;ExcessHet=0.0000;FS=0.820;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.38;ReadPosRankSum=0.795;SOR=0.843	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1242	20	0	1	0
chr9	128836038	128836038	T	C	exonic	KYAT1	.	nonsynonymous SNV	KYAT1:NM_001122672:exon7:c.A574G:p.I192V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.017	B	0.105	B	0.000	D	1.000	D	1.235	L	-2.33	D	-0.338	T	0.494	T	0.648	3.290	17.05	5.36	2.026	2.967	14.525	0.437	0.128302899677	0.0002	.	4.999e-05	0.0005	0	0	0	0	0.0011	0	3.88e-05	6	154602	rs370634792	1.163e-05	1.163e-05	1.225e-05	1.1e-05	0.0003	7.09e-06	5.79e-06	0.0001	0.0001	0.0003	0	0	0	0	0	0	0.0001	1.159e-05	0.0001	0.0001	0.0001	0.0001	0.0004	7.581e-05	6.285e-05	0.0003	0.0002	0.0004	0	0	0	0	0	0	0	0	0	0.174	0.28772	T	0.33	0.22291	T	0.017	0.17573	B	0.105	0.31087	B	0.000000	0.84330	D	0.046438	1	0.81001	D	0.67	0.16346	N	-2.33	0.87910	D	-0.65	0.18877	N	0.288	0.37301	-0.3383	0.73893	T	0.494	0.80791	T	10	0.19997352	0.36026	T	0.128303	0.81022	D	0.437	0.74164	.	.	0.50055108712	0.49690	0.7614787562651666	0.76095	0.148562605958	0.16756	0.497126072645	0.38427	T	0.330464	0.70065	T	-0.0799199	0.39729	T	-0.0225745	0.68859	D	0.0658356098939552	0.08053	T	0.909109	0.67839	D	0.18263263	0.39492	0.079683244	0.17961	0.18263263	0.39491	0.079683244	0.17961	-5.261	0.43093	T	.	.	0.064	0.06433	B	.;.;.;.	.;.;.;.	1.982432	0.25182	16.67	0.99606987320393747	0.74575	0.95134	0.63563	D	AEFDGBI	0.496220	0.53126	N	-0.230295099911397	0.31896	1.793196	-0.03294312130297	0.38236	2.249895	0.999999999970619	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.491896	0.07777	0	.	.	5.36	5.36	0.76624	2.973000	0.48956	3.396000	0.38099	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.715000	0.34611	0.0:0.0:0.0:1.0	14.525	0.67464	851	0.35303	Aminotransferase, class I/classII;Aminotransferase, class I/classII;.;Aminotransferase, class I/classII	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	695.98	33	chr9	128836038	.	T	C	695.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.159e+00;DP=779;ExcessHet=0.0000;FS=1.697;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.82;ReadPosRankSum=1.64;SOR=0.508	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1154	20	0	1	0
chr9	128945854	128945854	T	C	exonic	DOLK	.	nonsynonymous SNV	DOLK:NM_014908:exon1:c.A1450G:p.I484V,	Congenital disorder of glycosylation, type Im, Autosomal recessive	.	0	1494	26	2	0	30	0.00994036	.	.	229664	DK1-congenital_disorder_of_glycosylation|not_provided|Cardiovascular_phenotype|not_specified	MONDO:MONDO:0012556,MedGen:C1835849,OMIM:610768,Orphanet:91131|MedGen:C3661900|MedGen:CN230736|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.017	B	0.015	B	0.000	D	1.000	D	1.085	L	0.29	T	-1.007	T	0.130	T	0.183	1.281	10.19	3.13	0.380	2.855	8.782	0.057	.	0.0007	0.00319489	0.0020	0.0002	0	0	0.0002	0.0007	0.0033	0.0111	0.001727	267	154602	rs147630977	0.0010	0.0010	0.0007	0.0012	0.0091	0.0009	0.0009	0.0086	0.0084	5.974e-05	0.0002	3.826e-05	2.519e-05	5.616e-05	0.0061	0.0004	0.0015	0.0091	0.0008	0.0008	0.0006	0.0009	0.0104	0.0006	0.0006	0.0081	0.0073	7.217e-05	0	0.0005	0	0	9.413e-05	0	0.0007	0.0009	0.0104	0.161	0.23631	T	0.242	0.24264	T	0.017	0.17573	B	0.015	0.17295	B	0.000000	0.84330	D	0.000000	0.999902	0.50806	D	1.18	0.29980	L	0.29	0.58897	T	-0.36	0.13035	N	0.189	0.20660	-1.0069	0.27881	T	0.130	0.44048	T	10	0.008740902	0.00198	T	.	.	.	0.057	0.16321	.	.	0.634202473982	0.63120	0.4641050550355261	0.46329	0.307689579092	0.33064	0.695589542389	0.66507	T	0.197011	0.55356	T	-0.459298	0.00993	T	-0.424564	0.30554	T	0.00924988242751401	0.00117	T	0.779722	0.41422	T	0.04478138	0.07219	0.06884091	0.14427	0.06063995	0.12468	0.0722512	0.15564	-3.126	0.11597	T	0.2537091946592083	0.34318	0.118	0.24123	B	.	.	1.453646	0.18750	13.91	0.96607820403466116	0.30430	0.91131	0.52921	D	AEFDBI	0.310156	0.41625	N	-0.269190474146577	0.30345	1.691105	-0.120153768624484	0.34578	1.99061	0.999997413625794	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.46	3.13	0.35090	2.843000	0.47939	1.968000	0.29973	0.665000	0.62972	1.000000	0.71638	0.996000	0.32793	0.674000	0.33367	0.0:0.1531:0.0:0.8469	8.782	0.33955	896	0.25515	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	4818.98	39	chr9	128945854	.	T	C	4818.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.964e+00;DP=1102;ExcessHet=0.0000;FS=2.131;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=0.247;SOR=0.591	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1187	20	0	1	0
chr9	128979277	128979277	G	A	exonic	NUP188	.	nonsynonymous SNV	NUP188:NM_015354:exon13:c.G1219A:p.A407T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.995	D	0.991	D	0.000	D	1.000	D	0.695	N	-0.15	T	-0.564	T	0.298	T	0.745	3.840	19.50	5.11	2.528	8.308	17.887	0.270	0.0409883394051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.46910	D	0.049	0.48336	D	0.995	0.67487	D	0.991	0.79672	D	0.000000	0.84330	D	0.048394	1	0.81001	D	0.805	0.20218	L	-0.15	0.65192	T	-0.61	0.18042	N	0.801	0.79696	-0.5639	0.66255	T	0.298	0.66896	T	10	0.65435886	0.69786	D	0.040988	0.59680	D	0.270	0.58507	0.548	0.66296	0.23798241625	0.23396	0.416710497574191	0.41587	0.718008405053	0.62071	0.67628455162	0.63736	T	0.025991	0.19327	T	0.151832	0.69439	D	-0.0196809	0.69049	D	0.812359213829041	0.47215	D	0.952805	0.82030	D	0.20271438	0.42325	0.2112804	0.45550	0.20271438	0.42325	0.2112804	0.45549	-3.122	0.11551	T	.	.	0.176	0.38552	B	.	.	4.556774	0.71761	25.7	0.99886755084683121	0.96204	0.99046	0.90435	D	AEFDBIJ	0.862820	0.78120	D	0.59187806074507	0.72667	5.841962	0.617371761877709	0.76201	6.447552	0.999999999991504	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.11	5.11	0.69188	8.421000	0.90129	11.679000	0.94198	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	17.887	0.88777	902	0.24074	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1429.98	36	chr9	128979277	.	G	A	1429.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.092e+00;DP=825;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.36;ReadPosRankSum=0.064;SOR=0.641	GT:AD:DP:GQ:PL	0/1:72,66:138:99:1444,0,1711	20	0	1	0
chr9	128998185	128998185	G	A	exonic	NUP188	.	nonsynonymous SNV	NUP188:NM_015354:exon31:c.G3386A:p.R1129H,	.	.	433	1077	10	2	0	14	0.00645756	.	.	3207134	NUP188-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.07	T	0.086	B	0.012	B	0.000	N	0.998	D	1.01	L	1.4	T	-1.084	T	0.066	T	0.117	2.065	12.86	4.77	1.410	3.936	10.255	0.077	.	0.0002	0.00259585	0.0015	0	0.0003	0	0	0.0007	0.0011	0.0079	0.0013519	209	154602	rs186381323	0.0008	0.0008	0.0006	0.0010	0.0090	0.0008	0.0008	0.0072	0.0070	0.0003	0.0004	0.0022	2.519e-05	0	0.0090	0.0003	0.0011	0.0077	0.0007	0.0007	0.0006	0.0007	0.0083	0.0006	0.0005	0.0062	0.0055	0.0002	0	0.0003	0.0043	0	0	0.0068	0.0004	0.0009	0.0083	0.138	0.25873	T	0.165	0.30926	T	0.007	0.14184	B	0.003	0.08700	B	0.000231	0.47286	N	0.176282	0.998347	0.44796	D	0.55	0.14455	N	1.4	0.33630	T	-2.02	0.46503	N	0.141	0.14054	-1.0837	0.06646	T	0.066	0.27295	T	10	0.005835682	0.00130	T	.	.	.	0.077	0.22490	.	.	0.128874641272	0.12493	0.35485000547949463	0.35398	0.229058174001	0.25467	0.353543817997	0.18442	T	0.245562	0.61488	T	-0.560544	0.00252	T	-0.572973	0.15178	T	0.0297444108873606	0.01950	T	0.852415	0.53747	D	0.032001503	0.03145	0.042567488	0.05100	0.032001503	0.03144	0.042567488	0.05100	-4.893	0.35656	T	.	.	0.116	0.23360	B	.	.	3.071221	0.41283	21.3	0.97895637336838792	0.36704	0.90714	0.52122	D	AEFBI	0.205929	0.33223	N	-0.310460670020828	0.28749	1.588373	-0.139783740882639	0.33803	1.937555	0.999999918220726	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.67	4.77	0.60425	4.317000	0.58976	4.495000	0.43587	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.699000	0.34110	0.1671:0.0:0.8329:0.0	10.255	0.42571	908	0.22609	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1091.98	38	chr9	128998185	.	G	A	1091.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=825;ExcessHet=0.0000;FS=0.691;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.02;ReadPosRankSum=-3.640e-01;SOR=0.772	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1430	20	0	1	0
chr9	128999742	128999742	G	T	exonic	NUP188	.	nonsynonymous SNV	NUP188:NM_015354:exon34:c.G3780T:p.E1260D,	.	.	425	1062	31	4	0	39	0.0180305	.	.	1687699	NUP188-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.11	T	0.007	B	0.004	B	0.000	D	1.000	D	1.355	L	1.3	T	-1.087	T	0.047	T	0.163	2.034	12.76	2.32	0.574	1.147	6.476	0.054	.	0.0037	0.00459265	0.0053	0.0010	0.0041	0	0.0002	0.0053	0.0077	0.0136	0.0051487	796	154602	rs147959429	0.0057	0.0057	0.0054	0.0060	0.0146	0.0056	0.0055	0.0139	0.0137	0.0011	0.0049	0.0052	7.557e-05	0.0006	0.0132	0.0055	0.0068	0.0146	0.0043	0.0043	0.0042	0.0045	0.0126	0.0041	0.0039	0.0101	0.0092	0.0010	0.0011	0.0104	0.0049	0.0002	0.0005	0.0238	0.0051	0.0099	0.0126	0.1	0.30515	T	0.13	0.34716	T	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.049497	0.999938	0.51612	D	1.21	0.30464	L	1.3	0.35590	T	-1.39	0.34397	N	0.219	0.24510	-1.0873	0.05995	T	0.047	0.20037	T	10	0.0067179203	0.00152	T	.	.	.	0.054	0.15330	0.288	0.24761	0.138757226776	0.13463	0.1281385805638429	0.12738	0.165499226601	0.18665	0.433647572994	0.29707	T	0.023	0.17867	T	-0.515755	0.00466	T	-0.501947	0.22145	T	0.0127255447813224	0.00215	T	0.80032	0.44603	T	0.09218572	0.21620	0.08854248	0.20650	0.09218572	0.21620	0.08854248	0.20650	-3.944	0.22963	T	.	.	0.073	0.04599	B	.	.	1.942941	0.24678	16.49	0.99142352313699977	0.53573	0.78145	0.38511	D	AEFDGBCI	0.280364	0.39420	N	-0.334370868506915	0.27851	1.531367	-0.221038961486426	0.30783	1.736232	0.999996208120048	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.28	2.32	0.27895	1.020000	0.29629	1.802000	0.28890	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.2262:0.0:0.6408:0.1329	6.476	0.21238	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1783.11	34	chr9	128999742	.	G	T	1783.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.129e+00;DP=941;ExcessHet=0.1072;FS=1.765;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.70;ReadPosRankSum=0.357;SOR=0.830	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	19	0	2	0
chr9	129040499	129040499	G	T	exonic	MIGA2	.	nonsynonymous SNV	MIGA2:NM_032809:exon2:c.G97T:p.V33L,	.	.	423	1095	4	0	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	0.0003493	54	154602	rs193049423	0.0029	0.0028	0.0030	0.0027	0.0039	0.0028	0.0028	0.0032	0.0032	0.0005	0.0015	0.0024	0	0.0008	0.0039	0.0033	0.0031	0.0009	0.0018	0.0018	0.0019	0.0018	0.0030	0.0017	0.0016	0.0026	0.0025	0.0005	0	0.0018	0.0020	0	0.0015	0	0.0030	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1912.98	33	chr9	129040499	.	G	T	1912.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.50;DP=852;ExcessHet=0.0000;FS=0.588;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.81;ReadPosRankSum=1.03;SOR=0.786	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1140	20	0	1	0
chr9	129177547	129177547	G	T	exonic	IER5L	.	nonsynonymous SNV	IER5L:NM_203434:exon1:c.C506A:p.P169H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.0	B	0.001	B	0.245	U	0.960	N	-0.345	N	2.91	T	-0.981	T	0.011	T	0.023	1.619	11.37	1.3	1.250	-0.104	6.140	0.040	0.250800381577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.156e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.12837	T	0.566	0.08930	T	0.0	0.02946	B	0.001	0.04355	B	0.244602	0.15638	U	0.576285	0.960419	0.26148	N	0	0.06538	N	2.91	0.10008	T	-0.88	0.23808	N	0.073	0.04668	-0.9810	0.34771	T	0.011	0.04274	T	10	0.07866463	0.12563	T	0.251	0.89106	D	0.040	0.10527	0.36	0.36385	0.043077524339	0.03247	0.2967883083256397	0.29591	1.03899564238	0.75721	0.898693680763	0.96294	D	0.002453	0.01845	T	-0.389823	0.02697	T	-0.79773	0.01960	T	0.0858484431117823	0.10718	T	0.369363	0.08678	T	0.2199485	0.44539	0.1406764	0.33524	0.2199485	0.44539	0.1406764	0.33524	-4.894	0.35667	T	.	.	0.137	0.29860	B	.	.	2.924112	0.38829	20.8	0.94638752515545466	0.25233	0.04259	0.09790	N	AEFDBHCIJ	0.030649	0.03127	N	-0.717546911593234	0.15528	0.7833757	-0.598887842497485	0.19521	1.047771	0.9999999315482	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.608004	0.38603	0	0.621717	0.48901	0	.	.	2.42	1.3	0.20778	0.743000	0.25899	6.739000	0.56479	0.269000	0.18496	0.974000	0.34632	1.000000	0.68203	0.955000	0.50612	0.0:0.0:0.5151:0.4849	6.140	0.19474	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.0625	33.57	1	chr9	129177547	.	G	T	33.57	.	AC=2;AF=0.063;AN=32;DP=92;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3057;MLEAC=2;MLEAF=0.063;MQ=60.00;QD=16.78;SOR=0.693	GT:AD:DP:GQ:PL	0/0:5,0:5:15:0,15,152	15	1	0	5
chr9	129615508	129615508	G	C	exonic	C9orf50	.	nonsynonymous SNV	C9orf50:NM_199350:exon4:c.C856G:p.R286G,	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.971	D	0.004	N	1.000	N	1.1	L	1.67	T	-1.036	T	0.113	T	0.751	1.137	9.632	3.17	2.083	2.561	10.195	0.324	0.0838868007977	.	.	.	.	.	.	.	.	.	.	.	.	.	rs776911121	2.064e-06	2.736e-06	1.369e-06	2.767e-06	0.0002	5.5e-07	1.5e-07	3.9e-06	1.46e-06	0	0	0	0	0	0.0002	0	0	2.346e-05	6.569e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.03	0.45393	D	0.0	0.92824	D	1.0	0.90584	D	0.971	0.72444	D	0.004481	0.33710	N	0.000000	0.856153	0.81001	N	1.04	0.26193	L	1.67	0.27331	T	-5.79	0.88065	D	0.788	0.78451	-1.0359	0.18575	T	0.113	0.40422	T	10	0.750723	0.75617	D	0.083887	0.74211	D	0.324	0.64624	0.482	0.56302	0.245101548738	0.24120	0.2783072358000185	0.27743	0.214648875101	0.24003	.	.	.	0.099726	0.40481	T	0.0114461	0.53223	T	-0.221335	0.52608	T	0.966959178447723	0.67750	D	0.565643	0.19997	T	0.3273559	0.55253	0.4383808	0.67225	0.3273559	0.55253	0.4383808	0.67226	-10.14	0.74745	D	.	.	0.622	0.69763	P	.	.	3.014075	0.40320	21.1	0.9876374217123145	0.45862	0.69332	0.34146	D	AEFDGBCI	0.248606	0.36898	N	0.271328425258462	0.54701	3.635052	0.181869733094375	0.48854	3.09585	0.999999767083068	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.17	3.17	0.35510	2.344000	0.43666	7.070000	0.57437	0.600000	0.45842	1.000000	0.71638	1.000000	0.68203	0.313000	0.24807	0.0:0.0:1.0:0.0	10.195	0.42225	707	0.57054	Domain of unknown function DUF4685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	781.98	63	chr9	129615508	.	G	C	781.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.590e-01;DP=1216;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.41;ReadPosRankSum=0.528;SOR=0.657	GT:AD:DP:GQ:PL	0/0:66,0:66:99:0,120,1800	20	0	1	0
chr9	129620196	129620196	-	A	exonic	C9orf50	.	frameshift insertion	C9orf50:NM_199350:exon1:c.378_379insT:p.P127Sfs*27,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1036397309	2.927e-05	2.873e-05	1.804e-05	4.108e-05	0.0006	2.176e-05	1.905e-05	0.0004	0.0004	0	0	0	0	0	0.0002	0	1.886e-05	0.0006	1.972e-05	1.97e-05	1.285e-05	2.691e-05	0.0004	5.24e-06	2.45e-06	7.279e-05	3.025e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1482.94	42	chr9	129620196	.	G	GA	1482.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.580;DP=837;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.81;ReadPosRankSum=-6.110e-01;SOR=0.636	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1112	20	0	1	0
chr9	129637849	129637849	C	T	exonic	ASB6	.	nonsynonymous SNV	ASB6:NM_001202403:exon5:c.G1120A:p.D374N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.999	D	0.000	D	1.000	D	1.23	L	1.0	T	-0.764	T	0.203	T	0.106	4.666	25.7	4.95	2.564	5.215	17.337	0.201	0.025790405812	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1361443042	5.088e-06	7.524e-06	5.708e-06	4.445e-06	0.0002	2.12e-06	1.36e-06	4.62e-06	1.73e-06	0	0	0	2.566e-05	0	0.0002	2.802e-06	0	2.783e-05	6.57e-06	6.567e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.05	0.39575	D	0.025	0.57587	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.225	0.30651	L	1.0	0.41392	T	-0.87	0.23590	N	0.336	0.37717	-0.7643	0.57171	T	0.203	0.55975	T	10	0.40878934	0.56080	T	0.02579	0.48740	D	0.201	0.48592	0.586	0.71371	0.307966526162	0.30417	0.40249025196668964	0.40165	0.367723749247	0.38336	0.587109923363	0.51087	T	0.034604	0.24916	T	-0.194779	0.21561	T	-0.517563	0.20541	T	0.789514422416687	0.45658	D	0.889911	0.62289	D	0.21771455	0.44262	0.17098735	0.39249	0.21771455	0.44262	0.17098735	0.39248	-4.573	0.31831	T	.	.	0.223	0.45433	B	.;.	.;.	4.689426	0.75131	26.3	0.99922703484129183	0.98852	0.98990	0.89628	D	AEFDGBHCI	0.578726	0.57981	D	0.560989778773623	0.70754	5.548142	0.548858488056949	0.71315	5.636549	1.0	0.98316	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.95	4.95	0.64894	5.459000	0.66422	6.028000	0.52885	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.899000	0.43558	0.0:1.0:0.0:0.0	17.337	0.87172	328	0.86572	SOCS box domain|SOCS box domain|SOCS box domain|SOCS box domain|Ankyrin repeat and SOCS box protein 6, SOCS box domain;SOCS box domain|SOCS box domain|SOCS box domain|SOCS box domain|Ankyrin repeat and SOCS box protein 6, SOCS box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	789.98	33	chr9	129637849	.	C	T	789.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=754;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.86;ReadPosRankSum=-2.800e-01;SOR=0.720	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1005	20	0	1	0
chr9	129807271	129807271	C	G	exonic	TOR1B	.	nonsynonymous SNV	TOR1B:NM_001317893:exon3:c.C549G:p.H183Q	.	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.212	B	0.027	B	0.000	D	1.000	D	1.53	L	1.49	T	-1.098	T	0.056	T	0.633	1.421	10.69	2.41	0.227	0.258	9.119	0.183	0.00930276036654	.	0.00159744	0.0010	0	0	0	0	0	0	0.0073	0.0008344	129	154602	rs558511047	0.0004	0.0004	0.0002	0.0007	0.0070	0.0004	0.0004	0.0065	0.0063	0	0	0	0	0	0	0	0.0004	0.0070	0.0002	0.0002	0.0001	0.0003	0.0062	0.0001	0.0001	0.0045	0.0039	0	0	0	0	0	0	0	1.47e-05	0	0.0062	0.452	0.08943	T	0.433	0.13595	T	0.212	0.30008	B	0.027	0.21085	B	0.000000	0.84330	D	0.046204	0.999987	0.54805	D	2.27	0.64531	M	1.49	0.31470	T	-4.45	0.77717	D	0.606	0.62357	-1.0976	0.04394	T	0.056	0.23413	T	10	0.011102766	0.00244	T	0.009303	0.24413	T	0.183	0.45592	0.707	0.84327	0.231005064126	0.22704	0.8587079883264593	0.85833	0.374034116714	0.38869	0.641067445278	0.58715	T	0.59526	0.86948	D	-0.399894	0.02318	T	-0.343052	0.39998	T	0.0932378678971477	0.11597	T	0.786121	0.42437	T	0.2541508	0.48441	0.1831965	0.41293	0.2541508	0.48441	0.1831965	0.41293	-8.734	0.65968	D	.	.	0.289	0.52068	B	.	.	1.944000	0.24691	16.49	0.91582510923594962	0.20864	0.88409	0.48324	D	AEFBI	0.424181	0.48946	N	-0.437398936876184	0.24168	1.303158	-0.324243312990656	0.27318	1.514991	0.999798253360912	0.43153	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.28	2.41	0.28644	0.279000	0.18532	-0.098000	0.11976	-0.820000	0.02968	0.986000	0.36153	0.002000	0.18203	0.868000	0.41282	0.0:0.6845:0.0:0.3155	9.119	0.35939	374	0.84073	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3067.98	37	chr9	129807271	.	C	G	3067.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.06;DP=1220;ExcessHet=0.0000;FS=0.484;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=-5.850e-01;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1221	20	0	1	0
chr9	129814202	129814202	A	C	exonic	TOR1A	.	nonsynonymous SNV	TOR1A:NM_000113:exon5:c.T769G:p.L257V,	Dystonia-1, torsion, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	835568	Dystonic_disorder	Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.996	D	0.801	P	0.000	D	1.000	D	2.43	M	-0.25	T	-0.368	T	0.359	T	0.504	3.796	19.27	-0.28	0.024	0.592	9.957	0.419	0.0257534878776	0.0004	.	0.0001	0.0005	0	0.0010	0	0	0.0011	0	9.7e-05	15	154602	rs201368848	4.515e-05	4.515e-05	5.309e-05	3.713e-05	0.0007	3.641e-05	3.321e-05	0.0005	0.0004	0.0002	2.236e-05	0	0.0007	0	0	3.597e-06	0.0004	1.159e-05	0.0001	0.0001	0.0001	0.0001	0.0010	8.174e-05	6.729e-05	0.0004	0.0002	0.0003	0	0	0	0.0010	0	0	0	0	0	0.003	0.68238	D	0.068	0.44106	T	0.996	0.68779	D	0.801	0.58220	P	0.000001	0.84330	D	0.000000	0.999993	0.58761	D	2.87	0.83286	M	-0.25	0.67011	T	-2.1	0.47852	N	0.537	0.56489	-0.3676	0.73034	T	0.359	0.72132	T	10	0.21329498	0.37817	T	0.025753	0.48703	D	0.419	0.72855	.	.	0.698464051262	0.69585	0.7715020725544578	0.77100	1.13410484638	0.78728	0.683116972446	0.64716	T	0.422744	0.77372	T	-0.278193	0.10859	T	-0.212915	0.53416	T	0.743884801864624	0.42948	D	0.964804	0.86967	D	0.71881044	0.79095	0.41016468	0.65284	0.71881044	0.79096	0.41016468	0.65285	-6.413	0.49610	T	0.4716614336367092	0.55199	0.254	0.48918	B	.	.	2.985507	0.39842	21.0	0.99812174175989155	0.89620	0.93909	0.59543	D	AEFDBCI	0.627604	0.61000	D	0.232545816158031	0.52782	3.450285	0.128427276233857	0.46008	2.854099	0.999586706099917	0.40607	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.99	-0.28	0.12248	0.612000	0.23979	1.727000	0.28301	-0.552000	0.04894	0.999000	0.42656	0.999000	0.35428	0.988000	0.63387	0.4941:0.0:0.5059:0.0	9.957	0.40845	363	0.84772	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1225.98	33	chr9	129814202	.	A	C	1225.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.150e+00;DP=792;ExcessHet=0.0000;FS=1.950;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=0.633;SOR=0.980	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1249	20	0	1	0
chr9	130307548	130307548	C	T	exonic	HMCN2	.	stopgain	HMCN2:NM_001291815:exon14:c.C2182T:p.R728X,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.491	24.1	3.39	1.215	2.016	12.468	.	.	.	.	6.455e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs782426971	1.882e-05	1.113e-05	1.442e-05	2.22e-05	0.0004	7.76e-06	5.44e-06	0.0001	8.852e-05	0.0001	0	0	0.0004	0	0	0	0	1.674e-05	3.287e-05	3.284e-05	1.285e-05	5.384e-05	0.0002	1.261e-05	7.98e-06	1.921e-05	1.032e-05	7.246e-05	0	0	0	0.0002	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.269	0.30461	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.390246	0.89341	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.600314	0.96679	36	0.99425567246888447	0.63984	0.93322	0.57907	D	AEFDGBI	0.161385	0.28744	N	0.424004974475102	0.62746	4.495568	0.220766053306165	0.51001	3.286513	0.99918967430228	0.38681	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.32	3.39	0.37919	2.094000	0.41344	1.723000	0.28273	-0.223000	0.07921	0.999000	0.42656	0.985000	0.30750	0.166000	0.20848	0.302:0.698:0.0:0.0	12.468	0.55110	588	0.69043	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1292.98	33	chr9	130307548	.	C	T	1292.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.876;DP=805;ExcessHet=0.0000;FS=1.583;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=-6.220e-01;SOR=0.546	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr9	130354885	130354885	G	A	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon32:c.G4987A:p.E1663K,	.	.	432	1075	15	0	0	15	0.00692841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00399361	0.0107	0	0.0154	0	0	0.0204	0.0064	0.0064	0.0022445	347	154602	rs147929126	0.0066	0.0052	0.0064	0.0067	0.0091	0.0064	0.0064	0.0069	0.0061	0.0006	0.0067	0.0468	0	0.0041	0.0091	0.0061	0.0081	0.0064	0.0056	0.0056	0.0057	0.0056	0.0105	0.0053	0.0052	0.0092	0.0087	0.0017	0	0.0105	0.0406	0	0.0031	0.0204	0.0060	0.0047	0.0052	.	.	.	0.33	0.18560	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.19995	.	.	.	.	.	.	.	0.0061682463	0.00139	T	.	.	.	.	.	.	.	0.126345400529	0.12197	0.5057489386732594	0.50496	.	.	.	.	.	0.011027	0.09890	T	-0.481281	0.00727	T	-0.459958	0.26603	T	.	.	.	0.614539	0.23442	T	0.093031876	0.21839	0.25402975	0.51061	0.093031876	0.21839	0.25402975	0.51060	-4.351	0.28886	T	.	.	0.075	0.05579	B	.	.	2.883339	0.38162	20.7	0.99755237795846929	0.84615	0.93249	0.57715	D	AEFDBI	0.496276	0.53129	N	.	.	.	.	.	.	0.0834187431312703	0.15927	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.26	3.36	0.37579	4.408000	0.59518	4.373000	0.43156	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.897000	0.43391	0.1035:0.0:0.8965:0.0	9.926	0.40661	576	0.70006	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2533.11	35	chr9	130354885	.	G	A	2533.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.37;DP=929;ExcessHet=0.1072;FS=5.191;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.47;ReadPosRankSum=0.853;SOR=0.621	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,101,1029	19	0	2	0
chr9	130370966	130370966	C	T	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon46:c.C7072T:p.P2358S,	.	.	494	1013	13	2	0	17	0.0083211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0129792	.	.	.	.	.	.	.	.	0.0036499	95	26028	rs370781496	0.0011	0.0007	0.0009	0.0013	0.0492	0.0010	0.0010	0.0464	0.0453	6.333e-05	0	0	0.0003	0	0.0012	1.312e-05	0.0033	0.0492	0.0016	0.0016	0.0009	0.0023	0.0481	0.0014	0.0013	0.0430	0.0410	4.81e-05	0	0.0001	0	0.0002	0	0	2.94e-05	0.0005	0.0481	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	0.41557	.	.	.	.	.	.	.	0.0051893294	0.00113	T	.	.	.	.	.	.	.	0.136095386433	0.13204	0.2772386586098036	0.27636	.	.	.	.	.	0.096058	0.39747	T	0.0645965	0.60186	T	-0.144988	0.59685	T	.	.	.	0.680032	0.28847	T	0.14387108	0.33048	0.32031155	0.57986	0.14387108	0.33048	0.32031155	0.57986	-8.115	0.61852	D	.	.	0.144	0.31733	B	.	.	3.962076	0.58118	23.9	0.72218123646025889	0.09897	0.93829	0.59311	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999939674743	0.74766	0.090766	0.02384	0	0.063388	0.01293	0	0.129117	0.03641	0	0.062806	0.01542	0	0.94028	0.60161	4.78	4.78	0.60666	5.356000	0.65817	5.958000	0.51771	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.823000	0.38780	0.0:1.0:0.0:0.0	16.816	0.85597	512	0.75040	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1725.98	36	chr9	130370966	.	C	T	1725.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.057e+00;DP=846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=1.60;SOR=0.750	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1265	20	0	1	0
chr9	130375668	130375668	C	T	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon50:c.C7736T:p.S2579F,	.	.	502	1017	3	0	0	3	0.00147275	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs554536219	2.519e-05	2.394e-05	3.121e-05	1.818e-05	0.0010	1.618e-05	1.373e-05	0.0007	0.0005	0	0	0	0	0	0	1.312e-06	0.0001	0.0010	6.565e-05	6.561e-05	3.854e-05	9.398e-05	0.0021	3.513e-05	2.614e-05	0.0011	0.0009	0	0	0	0	0	0	0	0	0	0.0021	.	.	.	0.018	0.59732	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.312	0.35194	.	.	.	.	.	.	.	0.0317083	0.01310	T	.	.	.	.	.	.	.	0.413113201963	0.40925	0.08875095698361245	0.08808	.	.	.	.	.	0.069743	0.33786	T	0.0568677	0.59218	T	-0.15609	0.58702	T	.	.	.	0.674133	0.28269	T	0.10456346	0.24721	0.19745094	0.43527	0.10456346	0.24720	0.19745094	0.43526	-7.052	0.54413	T	.	.	0.129	0.27642	B	.	.	3.386910	0.46878	22.4	0.86383361125716007	0.16499	0.92969	0.56995	D	AEFBI	.	.	.	.	.	.	.	.	.	0.0450189150499904	0.14635	0.090766	0.02384	0	0.063388	0.01293	0	0.129117	0.03641	0	0.062806	0.01542	0	0.73861	0.44114	5.44	3.57	0.40014	3.830000	0.55469	2.699000	0.34147	-0.223000	0.07921	0.994000	0.38300	0.032000	0.21310	0.971000	0.54645	0.1586:0.6794:0.0:0.162	5.708	0.17191	457	0.78953	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1349.98	34	chr9	130375668	.	C	T	1349.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.575e+00;DP=816;ExcessHet=0.0000;FS=4.447;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=-6.940e-01;SOR=1.005	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1360	20	0	1	0
chr9	130384388	130384388	C	T	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon58:c.C8846T:p.A2949V,	.	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs573657973	5.755e-05	4.583e-05	4.271e-05	7.302e-05	0.0012	4.641e-05	4.233e-05	0.0004	0.0002	0	0	0	0	0	0.0012	3.813e-05	0.0001	0.0003	3.942e-05	3.94e-05	5.138e-05	2.69e-05	8.819e-05	1.715e-05	1.129e-05	3.762e-05	2.575e-05	0	0	0	0	0	0	0	8.819e-05	0	0	.	.	.	0.31	0.19721	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.02272	.	.	.	.	.	.	.	0.046407163	0.03827	T	.	.	.	.	.	.	.	0.0920862733494	0.08535	0.09922831805019339	0.09853	.	.	.	.	.	4.31E-4	0.00146	T	-0.299307	0.08725	T	-0.66771	0.07756	T	.	.	.	0.528347	0.17454	T	0.05851631	0.11782	0.23392433	0.48595	0.05851631	0.11782	0.23392433	0.48594	-3.514	0.16628	T	.	.	0.081	0.08033	B	.	.	1.813948	0.23053	15.87	0.83556855334068847	0.14791	0.15365	0.18876	N	AEFGBHCI	.	.	.	.	.	.	.	.	.	0.0736343500029375	0.15640	0.090766	0.02384	0	0.063388	0.01293	0	0.129117	0.03641	0	0.062806	0.01542	0	0.206616	0.30768	5.34	2.49	0.29274	-0.221000	0.09208	0.127000	0.14995	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.893000	0.43066	0.0:0.7384:0.0:0.2616	8.24	0.30814	416	0.81733	Immunoglobulin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1811.98	164	chr9	130384388	.	C	T	1811.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.760e-01;DP=980;ExcessHet=0.0000;FS=6.799;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.05;ReadPosRankSum=-1.837e+00;SOR=1.184	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr9	130385722	130385722	C	A	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon60:c.C9269A:p.A3090D,	.	.	404	1117	1	0	0	1	0.000447427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.886e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs774303161	2.778e-05	2.189e-05	2.725e-05	2.833e-05	0.0002	2.01e-05	1.72e-05	2.007e-05	1.72e-05	0	0	0	0	0	0.0002	2.932e-05	4.805e-05	2.625e-05	6.574e-06	6.567e-06	0	1.345e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	0.01	0.65728	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.37820	.	.	.	.	.	.	.	0.118866414	0.22481	T	.	.	.	.	.	.	.	0.238705975628	0.23479	0.37223102023011784	0.37137	.	.	.	.	.	0.012741	0.11148	T	-0.233659	0.16167	T	-0.445633	0.28179	T	.	.	.	0.440256	0.12156	T	0.09450985	0.22221	0.14087301	0.33565	0.09450985	0.22221	0.14087301	0.33564	-8.504	0.64456	D	.	.	0.123	0.25624	B	.	.	1.722094	0.21921	15.41	0.96927135238486795	0.31640	0.13414	0.17842	N	AEFGBI	0.127461	0.24483	N	.	.	.	.	.	.	0.766944521605227	0.23603	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.1	2.17	0.26736	-0.091000	0.11111	0.530000	0.19240	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.067000	0.16453	0.0:0.603:0.1944:0.2026	4.544	0.11473	412	0.82007	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1837.98	36	chr9	130385722	.	C	A	1837.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.920e-01;DP=864;ExcessHet=0.0000;FS=0.681;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.59;ReadPosRankSum=-2.166e+00;SOR=0.615	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr9	130394559	130394559	G	A	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon69:c.G10676A:p.R3559Q,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0003	0	0	0	0	0.0010	0	0	0.0001488	23	154602	rs149109569	0.0008	0.0007	0.0009	0.0008	0.0010	0.0008	0.0008	0.0009	0.0009	8.208e-05	0.0002	0	0	7.693e-05	0.0005	0.0010	0.0008	3.95e-05	0.0005	0.0005	0.0006	0.0004	0.0010	0.0004	0.0004	0.0008	0.0007	0.0002	0	6.532e-05	0	0	0	0	0.0010	0.0005	0	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.05799	.	.	.	.	.	.	.	0.01161167	0.00253	T	.	.	.	.	.	.	.	0.110078149338	0.10416	0.16549554117314838	0.16469	.	.	.	.	.	0.030343	0.21531	T	-0.634012	0.00090	T	-0.724024	0.04604	T	.	.	.	0.471653	0.14010	T	0.04994343	0.08945	0.14676443	0.34758	0.04994343	0.08945	0.14676443	0.34758	-5.379	0.40717	T	.	.	0.082	0.08609	B	.	.	1.967770	0.24995	16.60	0.83575912068640168	0.14801	0.56219	0.30061	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.507468217774655	0.20992	0.090766	0.02384	0	0.063388	0.01293	0	0.129117	0.03641	0	0.079188	0.02158	0	0.109144	0.23454	4.46	0.235	0.14697	0.616000	0.24038	-0.284000	0.10246	-0.162000	0.11565	0.001000	0.13787	0.000000	0.08366	0.043000	0.14563	0.3564:0.0:0.5044:0.1392	4.747	0.12418	385	0.83500	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	929.98	39	chr9	130394559	.	G	A	929.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=762;ExcessHet=0.0000;FS=2.346;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.03;ReadPosRankSum=-9.940e-01;SOR=1.075	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1038	20	0	1	0
chr9	130397605	130397605	C	-	exonic	HMCN2	.	frameshift deletion	HMCN2:NM_001291815:exon74:c.11276delC:p.A3759Dfs*29,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1481734389	8.791e-07	6.84e-07	0	1.792e-06	1.312e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.312e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1427.94	34	chr9	130397604	.	GC	G	1427.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.507;DP=752;ExcessHet=0.0000;FS=4.667;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.83;ReadPosRankSum=-5.630e-01;SOR=0.964	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1115	20	0	1	0
chr9	130410587	130410587	G	A	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon85:c.G12896A:p.R4299Q,	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.168	B	0.028	B	.	.	0.999	N	0.41	N	-1.07	T	-0.925	T	0.212	T	0.062	1.847	12.14	-4.2	-1.142	-0.876	15.942	0.145	.	.	.	0.0001	0	0	0	0	0	0	0.0003	1.29e-05	2	154602	rs775077922	6.651e-05	6.43e-05	5.645e-05	7.685e-05	0.0009	5.535e-05	5.134e-05	0.0003	0.0002	6.33e-05	2.801e-05	0	0	0	0.0009	4.727e-05	0.0001	0.0004	3.283e-05	3.281e-05	2.57e-05	4.029e-05	0.0006	1.26e-05	7.97e-06	0.0002	9.003e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0006	.	.	.	0.977	0.02440	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04547	-0.9246	0.44915	T	0.212	0.57281	T	8	0.026502669	0.00815	T	.	.	.	.	.	.	.	0.0401082797425	0.02173	0.11343897901770826	0.11271	.	.	.	.	.	0.001258	0.00742	T	-0.527488	0.00397	T	-0.692347	0.06254	T	0.0209464031812465	0.00795	T	0.193581	0.02086	T	0.06620595	0.14223	0.16463055	0.38127	0.06620595	0.14223	0.16463055	0.38126	-3.496	0.16375	T	.	.	0.051	0.00179	B	.	.	0.266916	0.06449	2.922	0.96613108531452263	0.30452	0.00558	0.02546	N	AEFDGBI	0.037980	0.05306	N	-1.38477358456089	0.02780	0.123252	-1.36167188370077	0.03670	0.1716817	0.999695485391934	0.41870	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.63	-4.2	0.03562	-0.672000	0.05345	-2.846000	0.03302	-0.527000	0.04968	0.000000	0.06391	0.000000	0.08366	0.961000	0.51904	0.2764:0.0:0.7236:0.0	15.942	0.79551	371	0.84287	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1371.98	36	chr9	130410587	.	G	A	1371.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.97;DP=812;ExcessHet=0.0000;FS=0.720;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=9.000e-03;SOR=0.835	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1161	20	0	1	0
chr9	130422678	130422678	G	A	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon87:c.G13333A:p.G4445R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	.	.	.	.	.	.	0.869	N	1.63	L	1.6	T	-0.883	T	0.093	T	0.25	1.242	10.04	3.39	1.217	2.511	8.377	0.059	.	.	0.00559105	0.0015	0.0114	0	0	0	0	0	0	0.0003622	56	154602	rs61741490	0.0003	0.0003	0.0003	0.0003	0.0110	0.0002	0.0002	0.0099	0.0095	0.0110	0.0007	0	7.45e-05	0	0.0008	1.473e-05	0.0006	0	0.0030	0.0030	0.0029	0.0032	0.0105	0.0028	0.0027	0.0097	0.0094	0.0105	0	0.0013	0	0	0	0	0	0.0028	0	.	.	.	0.055	0.46862	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.27554	-0.8833	0.49497	T	0.093	0.35471	T	6	0.004911095	0.00105	T	.	.	.	.	.	.	.	0.380052290102	0.37618	0.26337928296041324	0.26250	.	.	.	.	.	0.08786	0.38034	T	-0.418687	0.01744	T	-0.363803	0.37612	T	0.0959427857192585	0.11904	T	0.551745	0.19033	T	0.06621723	0.14226	0.15142512	0.35669	0.06621723	0.14226	0.15142512	0.35669	-4.913	0.35881	T	.	.	0.124	0.25978	B	.	.	2.835146	0.37390	20.5	0.96246433765958372	0.29166	0.66697	0.33169	D	AEFDGBHCI	0.311726	0.41737	N	-0.134094471052088	0.35912	2.069003	-0.200047768465063	0.31536	1.785596	0.999983805270275	0.51787	0.59774	0.34471	0	0.596491	0.49125	0	0.26897	0.05253	2	0.530356	0.10902	0	.	.	5.24	3.39	0.37919	2.469000	0.44768	5.872000	0.50545	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.069000	0.16583	0.2423:0.0:0.7577:0.0	8.377	0.31608	363	0.84772	G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1697.98	41	chr9	130422678	.	G	A	1697.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=843;ExcessHet=0.0000;FS=0.605;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=-7.200e-01;SOR=0.595	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1153	20	0	1	0
chr9	130425813	130425813	C	T	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon90:c.C13768T:p.R4590W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	.	.	.	.	.	.	0.989	N	1.61	L	1.45	T	-0.854	T	0.099	T	0.349	3.775	19.17	4.68	2.158	3.102	8.845	0.115	.	.	0.000998403	0.0032	0	0	0	0	0	0.0051	0.0065	0.0003752	58	154602	rs531676404	0.0003	0.0003	0.0002	0.0005	0.0052	0.0003	0.0003	0.0048	0.0046	3.165e-05	0	0	0	0	0	1.854e-05	0.0003	0.0052	0.0002	0.0002	7.709e-05	0.0003	0.0050	0.0001	0.0001	0.0034	0.0029	7.216e-05	0	6.536e-05	0	0	0	0	2.94e-05	0	0.0050	.	.	.	0.029	0.54541	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.17140	-0.8538	0.51703	T	0.099	0.36983	T	6	0.008239478	0.00187	T	.	.	.	.	.	.	.	0.342168650903	0.33825	0.46429013773871297	0.46348	.	.	.	.	.	0.004702	0.04113	T	-0.360281	0.04114	T	-0.287961	0.45984	T	0.156818439412635	0.17634	T	0.789321	0.42944	T	0.14965017	0.34107	0.15573	0.36491	0.14965017	0.34106	0.15573	0.36490	-7.349	0.56544	T	.	.	0.087	0.11269	B	.	.	3.228721	0.44022	21.9	0.99900753447184909	0.97275	0.64639	0.32472	D	AEFDGBHCI	0.585533	0.58392	D	0.0967834205443716	0.46312	2.873541	0.100520625732395	0.44574	2.736663	0.999999043021164	0.74766	0.646311	0.45356	0	0.657636	0.61667	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	4.68	4.68	0.58319	2.699000	0.46744	0.775000	0.21430	0.599000	0.40250	0.942000	0.32722	0.000000	0.08366	0.657000	0.32885	0.0:0.8967:0.0:0.1033	8.845	0.34323	362	0.84826	G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	905.98	38	chr9	130425813	.	C	T	905.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.900e-01;DP=837;ExcessHet=0.0000;FS=3.113;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=0.680;SOR=0.379	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1040	20	0	1	0
chr9	130626373	130626373	G	A	exonic	FUBP3	.	nonsynonymous SNV	FUBP3:NM_003934:exon12:c.G985A:p.G329S,	.	.	.	.	.	.	.	.	.	.	.	2392082	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.6	T	0.995	D	0.774	P	0.000	D	1.000	D	2.015	M	1.01	T	-0.890	T	0.166	T	0.506	4.355	22.9	4.76	1.374	6.524	12.819	0.166	0.0299526240704	.	.	0.0002	0	0.0001	0	0	2.021e-05	0	0.0009	9.7e-05	15	154602	rs547113458	5.272e-05	5.336e-05	4.36e-05	6.194e-05	0.0007	4.281e-05	3.956e-05	0.0005	0.0005	2.988e-05	0	0	0	0	0	1.26e-05	8.286e-05	0.0007	1.314e-05	1.313e-05	0	2.689e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.24	0.17701	T	0.049	0.48336	D	0.995	0.67487	D	0.774	0.57014	P	0.000001	0.84330	D	0.096125	0.999968	0.81001	D	2.045	0.56016	M	1.01	0.41058	T	-2.18	0.49187	N	0.791	0.78737	-0.8901	0.48925	T	0.166	0.50502	T	10	0.48366293	0.60580	T	0.029953	0.52367	D	0.166	0.42578	0.392	0.41606	0.587613165634	0.58436	0.7702483988900216	0.76973	0.58691032302	0.54283	0.603704214096	0.53427	T	0.063465	0.32184	T	-0.329749	0.06130	T	-0.33071	0.41391	T	0.558398485183716	0.34794	D	0.947805	0.79866	D	0.08609854	0.19999	0.10830366	0.26088	0.08609854	0.19998	0.10830366	0.26087	-8.187	0.62337	D	.	.	0.080	0.07937	B	.	.	4.431258	0.68724	25.3	0.9982492876969784	0.90764	0.96999	0.72108	D	AEFDGBHCI	0.819483	0.74049	D	0.466245821515384	0.65131	4.784014	0.466002131321887	0.65749	4.863537	0.999999999793956	0.74766	0.712529	0.81865	0	0.702456	0.74545	0	0.635938	0.45252	0	0.714379	0.83352	0	.	.	5.67	4.76	0.60189	6.513000	0.73652	9.853000	0.82002	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.921000	0.45669	0.0789:0.0:0.9211:0.0	12.819	0.57065	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1895.98	33	chr9	130626373	.	G	A	1895.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=878;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.47;ReadPosRankSum=-5.690e-01;SOR=0.712	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr9	130884406	130884406	G	A	exonic	ABL1	.	nonsynonymous SNV	ABL1:NM_005157:exon11:c.G2116A:p.G706S	Leukemia, Philadelphia chromosome-positive, resistant to imatinib (3)	.	9	1489	24	0	0	24	0.00799467	.	.	137184	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.005	B	0.003	B	0.071	N	1.000	N	0.345	N	2.23	T	-0.953	T	0.012	T	0.09	-1.715	0.011	0.964	0.273	1.738	6.655	0.024	0.00271803552758	0.0017	0.00159744	0.0025	0.0005	0.0020	0	0.0007	0.0028	0.0012	0.0047	0.0023738	367	154602	rs143837301	0.0024	0.0024	0.0023	0.0025	0.0052	0.0023	0.0023	0.0038	0.0037	0.0010	0.0025	0.0093	2.52e-05	0.0016	0.0052	0.0022	0.0031	0.0042	0.0019	0.0019	0.0017	0.0022	0.0060	0.0017	0.0017	0.0043	0.0037	0.0008	0	0.0020	0.0084	0	0.0012	0	0.0023	0.0028	0.0060	1.0	0.00964	T	0.826	0.03783	T	0.001	0.07471	B	0.003	0.08700	B	0.070756	0.21518	N	0.559992	1	0.08975	N	-0.46	0.02758	N	2.23	0.18083	T	0.29	0.04306	N	0.089	0.06720	-0.9530	0.40450	T	0.012	0.04700	T	10	0.003545463	0.00064	T	0.002718	0.05608	T	0.024	0.04979	.	.	0.2338531098	0.23012	0.07570941552892904	0.07506	0.211731408611	0.23675	0.309524178505	0.11836	T	0.176391	0.52632	T	-0.655472	0.00067	T	-0.713364	0.05123	T	0.000612684359155937	0.00005	T	0.754325	0.37688	T	0.015586566	0.00147	0.026643824	0.00765	0.021350384	0.00732	0.029425928	0.01280	-3.723	0.19658	T	0.09321182960621102	0.06106	0.062	0.01348	B	.;.	.;.	0.257806	0.06365	2.829	0.6450848117780148	0.07513	0.17070	0.19676	N	AEFDBCI	0.067474	0.13265	N	-1.22014891431685	0.04708	0.213075	-1.16406645746914	0.06519	0.3140407	0.999985339090882	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.42	0.964	0.18774	1.755000	0.38008	1.555000	0.27319	-0.113000	0.14837	0.351000	0.25767	0.874000	0.27626	0.009000	0.08673	0.6306:0.0:0.3694:0.0	6.655	0.22173	671	0.60868	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	943.98	64	chr9	130884406	.	G	A	943.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.09;DP=789;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.75;ReadPosRankSum=1.11;SOR=0.824	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1259	20	0	1	0
chr9	130911831	130911831	G	C	exonic	FIBCD1	.	nonsynonymous SNV	FIBCD1:NM_032843:exon5:c.C907G:p.R303G	.	.	414	1044	61	3	0	67	0.0310905	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.977	D	0.9	P	0.000	D	1.000	D	2.54	M	-1.12	T	0.399	D	0.609	D	0.642	2.707	15.01	4.18	2.404	2.054	15.166	0.621	.	0.0039	0.00279553	0.0073	0.0002	0.0035	0	0.0029	0.0074	0.0074	0.0172	0.0046442	718	154602	rs144181457	0.0046	0.0046	0.0042	0.0050	0.0237	0.0045	0.0045	0.0204	0.0192	0.0006	0.0020	0.0127	5.136e-05	0.0020	0.0237	0.0040	0.0048	0.0155	0.0037	0.0037	0.0037	0.0038	0.0138	0.0035	0.0034	0.0111	0.0101	0.0005	0.0186	0.0029	0.0136	0	0.0016	0.0136	0.0049	0.0081	0.0138	0.003	0.68238	D	0.002	0.79402	D	0.977	0.58535	D	0.9	0.63913	P	0.000014	0.62929	D	0.112664	0.999867	0.50061	D	2.85	0.82803	M	-1.64	0.82533	D	-4.28	0.77881	D	0.742	0.77601	0.399	0.89075	D	0.609	0.86161	D	10	0.02502969	0.00710	T	.	.	.	0.621	0.85301	.	.	0.843453965544	0.84196	0.5856316524252596	0.58492	0.535445488609	0.50911	0.552755832672	0.46246	T	0.155961	0.49792	T	-0.170944	0.25092	T	-0.00664874	0.69902	D	0.0313949127240149	0.02208	T	0.953105	0.82105	D	0.6424315	0.74961	0.4553206	0.68334	0.6424315	0.74962	0.4553206	0.68334	-8.692	0.65693	D	.	.	0.318	0.58826	B	.;.;.	.;.;.	4.207188	0.63535	24.6	0.99806678207815691	0.89085	0.86228	0.45468	D	AEFDBCI	0.590179	0.58677	D	0.486586880830058	0.66304	4.933122	0.396929585345939	0.61376	4.336751	0.999996956823631	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.17	4.18	0.48473	2.754000	0.47211	6.937000	0.56979	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.016000	0.10718	0.0:0.0:0.8492:0.1508	15.166	0.72515	649	0.63102	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2162.11	33	chr9	130911831	.	G	C	2162.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.73;DP=961;ExcessHet=0.1072;FS=1.206;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.72;ReadPosRankSum=1.22;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1181	19	0	2	0
chr9	131045555	131045555	C	A	exonic	LAMC3	.	nonsynonymous SNV	LAMC3:NM_006059:exon8:c.C1414A:p.H472N,	Cortical malformations, occipital, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	264315	Inborn_genetic_diseases|not_provided|not_specified	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.48	T	0.012	B	0.038	B	0.327	N	1.000	N	0.08	N	0.6	T	-1.028	T	0.069	T	0.188	-0.113	3.446	2.76	0.563	0.505	4.683	0.073	0.0288603285702	7.7e-05	.	5.776e-05	0	8.648e-05	0	0	6.006e-05	0	0.0001	4.53e-05	7	154602	rs145387373	6.704e-05	6.704e-05	6.671e-05	6.739e-05	0.0036	5.629e-05	5.172e-05	0.0024	0.0020	0	0.0001	0	0	3.755e-05	0.0036	4.406e-05	0.0001	0.0002	2.626e-05	2.624e-05	3.854e-05	1.342e-05	2.94e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0.0034	2.94e-05	0.0005	0	0.445	0.09128	T	0.5	0.11190	T	0.012	0.16265	B	0.038	0.23361	B	0.327304	0.14172	N	0.712512	1	0.08975	N	0.295	0.10161	N	0.6	0.53731	T	-1.63	0.39119	N	0.276	0.31253	-1.0276	0.21233	T	0.069	0.28379	T	10	0.09288862	0.16395	T	0.02886	0.51467	D	0.073	0.21317	.	.	0.492336895404	0.48868	0.29340415923248847	0.29253	0.497249836479	0.48222	0.48203265667	0.36336	T	0.01972	0.15658	T	-0.381775	0.03036	T	-0.531124	0.19173	T	0.0154701301234127	0.00349	T	0.247375	0.03654	T	0.09379812	0.22037	0.07566095	0.16681	0.09379812	0.22037	0.07566095	0.16681	-8.287	0.63008	D	.	.	0.077	0.06571	B	.	.	2.005022	0.25474	16.78	0.72252446194154385	0.09908	0.13644	0.17972	N	AEFDBCI	0.184432	0.31176	N	-0.837410610723695	0.12362	0.6021044	-0.753006534780126	0.15649	0.8240599	0.999979196755915	0.50053	0.695654	0.57023	0	0.573078	0.20572	0	0.723109	0.80598	0	0.421638	0.06922	2	.	.	4.6	2.76	0.31527	0.096000	0.14986	1.035000	0.23510	0.599000	0.40250	0.000000	0.06391	0.353000	0.24482	0.119000	0.19126	0.0:0.6238:0.1801:0.1961	4.683	0.12129	421	0.81399	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1445.98	35	chr9	131045555	.	C	A	1445.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.480e-01;DP=821;ExcessHet=0.0000;FS=0.693;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=-2.000e-01;SOR=0.801	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,103,1205	20	0	1	0
chr9	131057055	131057055	C	T	exonic	LAMC3	.	nonsynonymous SNV	LAMC3:NM_006059:exon12:c.C2066T:p.P689L,	Cortical malformations, occipital, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	191237	Inborn_genetic_diseases|Occipital_pachygyria_and_polymicrogyria|not_specified|not_provided|LAMC3-related_disorder	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013583,MedGen:C3279875,OMIM:614115,Orphanet:280640|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.14	T	0.523	P	0.344	B	0.000	N	1.000	D	2.3	M	-0.05	T	-0.855	T	0.218	T	0.262	2.690	14.96	0.752	0.113	0.897	5.771	0.139	0.0549193988053	0.0015	0.000399361	0.0006	0.0026	0.0009	0.0010	0	0.0003	0	6.058e-05	0.000511	79	154602	rs113443891	0.0003	0.0003	0.0003	0.0003	0.0042	0.0003	0.0003	0.0036	0.0034	0.0042	0.0005	0.0052	0.0003	0	0.0014	6.025e-05	0.0007	6.956e-05	0.0011	0.0011	0.0012	0.0011	0.0032	0.0010	0.0009	0.0028	0.0026	0.0032	0	0.0006	0.0063	0.0004	0	0	4.41e-05	0.0005	0.0002	0.238	0.17821	T	0.194	0.28120	T	0.523	0.37559	P	0.344	0.42549	B	0.000001	0.62929	N	0.058030	0.999918	0.51042	D	2.285	0.65182	M	-0.05	0.63403	T	-6.24	0.90530	D	0.3	0.33904	-0.8546	0.51648	T	0.218	0.58111	T	10	0.0112422705	0.00247	T	0.054919	0.66037	D	0.139	0.37390	.	.	0.799219371692	0.79734	0.5904426597122575	0.58974	0.326212291116	0.34772	0.454223453999	0.32521	T	0.256934	0.62790	T	-0.409885	0.01991	T	-0.364284	0.37555	T	0.0874252520732733	0.10909	T	0.880912	0.59977	D	0.20331456	0.42406	0.14030047	0.33447	0.20331456	0.42406	0.14030047	0.33446	-7.271	0.55989	T	.	.	0.066	0.02173	B	.	.	2.434687	0.31330	18.71	0.96165887229890878	0.28911	0.26625	0.23047	N	AEFBCI	0.102189	0.20505	N	-0.196561798817418	0.33277	1.886105	-0.253029366104345	0.29667	1.663974	0.999766122908633	0.42728	0.736574	0.97449	0	0.547309	0.14657	0	0.732669	0.93749	0	0.542086	0.14980	0	.	.	4.89	0.752	0.17546	0.919000	0.28312	0.757000	0.21283	0.573000	0.29008	0.045000	0.21207	0.007000	0.19602	0.984000	0.60418	0.1331:0.6343:0.0:0.2327	5.771	0.17517	411	0.82069	Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1006.98	36	chr9	131057055	.	C	T	1006.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.637;DP=788;ExcessHet=0.0000;FS=0.782;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.07;ReadPosRankSum=1.78;SOR=0.593	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1353	20	0	1	0
chr9	131061103	131061103	A	G	exonic	LAMC3	.	nonsynonymous SNV	LAMC3:NM_006059:exon13:c.A2227G:p.N743D,	Cortical malformations, occipital, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	359891	Inborn_genetic_diseases|LAMC3-related_disorder|not_specified|not_provided	MeSH:D030342,MedGen:C0950123|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.476	P	0.405	B	0.000	N	0.728	D	0.975	L	0.15	T	-0.891	T	0.127	T	0.034	-0.190	3.076	3.66	0.706	2.278	6.736	0.143	0.0474985093053	0.0012	0.000199681	0.0003	0.0017	0	0	0	0.0003	0	0	0.0003105	48	154602	rs36030184	0.0002	0.0002	0.0002	0.0002	0.0027	0.0002	0.0002	0.0023	0.0021	0.0027	2.236e-05	0.0052	0	0	0.0014	4.676e-05	0.0006	2.319e-05	0.0007	0.0007	0.0008	0.0007	0.0020	0.0006	0.0006	0.0016	0.0015	0.0020	0	0.0001	0.0063	0	0	0	2.941e-05	0	0	0.828	0.02899	T	0.632	0.07150	T	0.476	0.36665	P	0.405	0.44649	B	0.000019	0.62929	N	0.151262	0.727577	0.33683	D	0.32	0.10341	N	0.15	0.60734	T	-2.77	0.58733	D	0.202	0.22357	-0.8910	0.48846	T	0.127	0.43421	T	10	0.014074862	0.00297	T	0.047499	0.62947	D	0.143	0.38195	.	.	0.743718045392	0.74141	0.3551662572859445	0.35430	0.406411375388	0.41517	0.488658607006	0.37251	T	0.097506	0.40039	T	-0.561512	0.00249	T	-0.585825	0.14030	T	0.0747152916828613	0.09297	T	0.673433	0.28201	T	0.26544875	0.49613	0.1791495	0.40631	0.26544875	0.49613	0.1791495	0.40630	-6.441	0.49829	T	.	.	0.107	0.20235	B	.	.	3.093428	0.41662	21.4	0.66119404724584241	0.07966	0.76213	0.37362	D	AEFDGBCI	0.335363	0.43383	N	-0.359915671640983	0.26910	1.472327	-0.301017294039814	0.28067	1.561962	0.999998833359701	0.74766	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.79	3.66	0.41111	2.280000	0.43103	5.989000	0.52298	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.137000	0.19835	0.8128:0.0:0.1872:0.0	6.736	0.22599	408	0.82256	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1041.98	33	chr9	131061103	.	A	G	1041.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.480e-01;DP=928;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.66;ReadPosRankSum=-1.320e-01;SOR=0.713	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,111,1368	20	0	1	0
chr9	131069768	131069768	G	A	exonic	LAMC3	.	nonsynonymous SNV	LAMC3:NM_006059:exon17:c.G2987A:p.R996H,	Cortical malformations, occipital, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	428934	not_specified|not_provided|LAMC3-related_disorder|Inborn_genetic_diseases	MedGen:CN169374|MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.12	T	0.208	B	0.075	B	0.001	N	0.738	D	1.605	L	-0.09	T	-0.866	T	0.153	T	0.146	2.596	14.64	1.98	0.455	-0.058	4.706	0.040	0.0213777317512	0.0010	.	0.0007	0.0024	0.0003	0	0	0.0007	0	0	0.0003105	48	154602	rs113785045	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0002	0.0017	0.0015	0.0021	4.749e-05	0.0053	0	0	0.0014	4.893e-05	0.0007	2.402e-05	0.0006	0.0006	0.0006	0.0005	0.0015	0.0005	0.0004	0.0012	0.0011	0.0015	0	0	0.0063	0	0	0	2.94e-05	0	0	0.109	0.29288	T	0.162	0.31225	T	0.208	0.29916	B	0.075	0.28327	B	0.001200	0.39899	N	0.217580	0.737723	0.33788	D	1.625	0.41611	L	-0.09	0.64086	T	-2.39	0.52612	N	0.29	0.32812	-0.8662	0.50812	T	0.153	0.48257	T	10	0.020186871	0.00461	T	0.021378	0.44139	T	0.040	0.10527	.	.	0.752969059258	0.75073	0.34906727268766224	0.34820	0.209138445766	0.23382	0.259433120489	0.04824	T	0.087501	0.37956	T	-0.462583	0.00947	T	-0.461873	0.26394	T	0.0255662580769392	0.01347	T	0.734627	0.35069	T	0.05473593	0.10543	0.056546073	0.10123	0.05473593	0.10542	0.056546073	0.10123	-8.415	0.63864	D	.	.	0.064	0.01786	B	.	.	3.097729	0.41735	21.4	0.99498180288995397	0.67859	0.46456	0.27764	N	AEFDBCI	0.250059	0.37017	N	-0.294402600873162	0.29363	1.627718	-0.230348490284835	0.30455	1.714873	0.999970201239958	0.50053	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.99	1.98	0.25351	-0.057000	0.11726	0.320000	0.17174	0.676000	0.76740	0.729000	0.28913	0.936000	0.28664	0.960000	0.51673	0.2499:0.0:0.602:0.1481	4.706	0.12232	390	0.83257	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	2723.98	45	chr9	131069768	.	G	A	2723.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=941;ExcessHet=0.0000;FS=1.616;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=1.80;SOR=0.567	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1244	20	0	1	0
chr9	131072668	131072668	G	C	exonic	LAMC3	.	nonsynonymous SNV	LAMC3:NM_006059:exon19:c.G3250C:p.E1084Q,	Cortical malformations, occipital, Autosomal recessive	.	7	1498	15	2	0	19	0.00630182	.	.	192120	not_specified|not_provided|Occipital_pachygyria_and_polymicrogyria|LAMC3-related_disorder|Inborn_genetic_diseases	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013583,MedGen:C3279875,OMIM:614115,Orphanet:280640|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.21	T	0.411	B	0.241	B	0.169	N	1.000	N	1.79	L	1.61	T	-1.046	T	0.072	T	0.061	0.436	6.366	1.1	0.014	1.838	8.466	0.050	0.0206708405732	0.0032	0.00219649	0.0035	0.0005	0.0022	0	0.0004	0.0044	0.0037	0.0052	0.0033376	516	154602	rs146221263	0.0053	0.0053	0.0051	0.0054	0.0060	0.0052	0.0051	0.0058	0.0058	0.0007	0.0022	0.0034	0	0.0008	0.0060	0.0059	0.0057	0.0053	0.0035	0.0035	0.0035	0.0034	0.0068	0.0032	0.0031	0.0050	0.0048	0.0011	0.0011	0.0038	0.0017	0	0.0002	0.0034	0.0054	0.0062	0.0068	0.307	0.14159	T	0.45	0.12957	T	0.411	0.35101	B	0.241	0.38645	B	0.168944	0.17432	N	0.589854	1	0.08975	N	1.75	0.45442	L	1.61	0.28391	T	-0.63	0.18459	N	0.3	0.33904	-1.0465	0.15389	T	0.072	0.29195	T	10	0.005625963	0.00125	T	0.020671	0.43310	T	0.050	0.13987	.	.	0.41921206133	0.41539	0.3882043185247983	0.38735	0.475146259266	0.46692	0.320394456387	0.13481	T	0.020356	0.16045	T	-0.638564	0.00085	T	-0.687695	0.06524	T	0.00534322147274845	0.00058	T	0.642236	0.25428	T	0.043006912	0.06626	0.028478721	0.01088	0.043006912	0.06626	0.028478721	0.01088	-5.953	0.45884	T	.	.	0.097	0.15698	B	.	.	0.386080	0.07578	4.234	0.9241350103392354	0.21828	0.42071	0.26797	N	AEFDGBI	0.174243	0.30136	N	-0.692388602980773	0.16238	0.8254968	-0.772611837061427	0.15167	0.7963558	0.999988875375155	0.51787	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.07	1.1	0.19578	1.493000	0.35214	0.074000	0.14299	-0.105000	0.15698	0.070000	0.22072	0.000000	0.08366	0.005000	0.06747	0.4048:0.0:0.5952:0.0	8.466	0.32119	385	0.83500	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	1139.98	40	chr9	131072668	.	G	C	1139.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.526;DP=865;ExcessHet=0.0000;FS=1.827;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.90;ReadPosRankSum=-5.030e-01;SOR=0.954	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,100,1125	20	0	1	0
chr9	131072797	131072797	G	A	exonic	LAMC3	.	nonsynonymous SNV	LAMC3:NM_006059:exon19:c.G3379A:p.E1127K,	Cortical malformations, occipital, Autosomal recessive	.	0	1503	18	1	0	20	0.00660939	.	.	192121	Inborn_genetic_diseases|not_specified|Occipital_pachygyria_and_polymicrogyria|not_provided|LAMC3-related_disorder	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0013583,MedGen:C3279875,OMIM:614115,Orphanet:280640|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.38	T	0.049	B	0.016	B	0.127	N	0.981	N	1.95	M	1.73	T	-1.087	T	0.044	T	0.326	3.107	16.38	4.0	2.476	1.907	10.794	0.025	0.00843649947168	0.0035	0.00219649	0.0039	0.0006	0.0029	0	0.0007	0.0050	0.0055	0.0057	0.0035316	546	154602	rs140955110	0.0053	0.0053	0.0051	0.0054	0.0059	0.0052	0.0051	0.0058	0.0058	0.0007	0.0023	0.0034	0	0.0008	0.0050	0.0059	0.0057	0.0053	0.0035	0.0035	0.0035	0.0034	0.0070	0.0032	0.0031	0.0052	0.0048	0.0011	0.0011	0.0038	0.0017	0	0.0002	0.0034	0.0054	0.0062	0.0070	0.117	0.28271	T	0.463	0.12491	T	0.049	0.22227	B	0.016	0.17743	B	0.126841	0.18790	N	0.578659	0.980992	0.25072	N	2.085	0.57729	M	1.73	0.26445	T	-1.18	0.30140	N	0.388	0.42931	-1.0866	0.06120	T	0.044	0.18742	T	10	0.0077517927	0.00176	T	0.008436	0.22332	T	0.025	0.05312	.	.	0.477065420593	0.47334	0.22094178837759396	0.22009	0.171318100332	0.19297	0.352000117302	0.18216	T	0.037436	0.24475	T	-0.480332	0.00736	T	-0.460406	0.26554	T	0.0072671593781635	0.00083	T	0.824718	0.48674	T	0.082769334	0.19083	0.10614104	0.25529	0.082769334	0.19082	0.10614104	0.25529	-3.825	0.21178	T	.	.	0.076	0.06069	B	.	.	2.719658	0.35566	19.93	0.99822019021662456	0.90502	0.67135	0.33323	D	AEFDGBCI	0.206231	0.33251	N	-0.0884116095711559	0.37901	2.21174	0.0421517654310749	0.41695	2.509211	0.999999768437312	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.97	4.0	0.45673	1.472000	0.34984	8.128000	0.76646	0.676000	0.76740	0.952000	0.33172	1.000000	0.68203	0.293000	0.24333	0.0:0.2903:0.7097:0.0	10.794	0.45648	385	0.83500	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	506.98	40	chr9	131072797	.	G	A	506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=834;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.94;ReadPosRankSum=-1.000e-02;SOR=0.578	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,100,1125	20	0	1	0
chr9	131117828	131117828	T	C	exonic	AIF1L	.	nonsynonymous SNV	AIF1L:NM_001185096:exon5:c.T275C:p.I92T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.979	D	0.000	D	1.000	D	3.165	M	1.11	T	-0.100	T	0.377	T	0.977	5.102	31	5.74	2.192	8.013	15.223	0.829	0.086331759809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.83351	D	0.962	0.73220	D	0.744	0.74454	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.04	0.86592	M	0.78	0.50976	T	-4.79	0.80595	D	0.967	0.98065	-0.0997	0.80104	T	0.377	0.73438	T	10	0.9224597	0.91598	D	0.086332	0.74714	D	0.829	0.94579	.	.	0.805461841073	0.80364	0.7238422849693593	0.72328	1.03534464927	0.75567	0.843075454235	0.88563	D	0.31304	0.76002	T	0.321721	0.84592	D	0.224353	0.84391	D	0.996974255464703	0.90488	D	0.961204	0.90184	D	0.8458817	0.87033	0.71896714	0.83409	0.8458817	0.87034	0.71896714	0.83410	-10.81	0.84118	D	.	.	0.963	0.90501	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.555044	0.71721	25.7	0.99846229060438119	0.92576	0.93631	0.58748	D	AEFGBCI	0.940799	0.94325	D	0.878168267895768	0.90649	10.50113	0.839486138280923	0.92388	11.39726	0.999999999999895	0.74766	0.67177	0.52595	0	0.563428	0.19063	0	0.702456	0.68683	0	0.654926	0.60358	0	.	.	5.74	5.74	0.90070	7.991000	0.87898	7.825000	0.69893	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	15.223	0.73020	358	0.85037	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	49.41	33	chr9	131117828	.	T	C	49.41	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.351e+00;DP=1141;ExcessHet=0.1072;FS=160.711;InbreedingCoeff=-0.0571;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.13;ReadPosRankSum=1.50;SOR=9.308	GT:AD:DP:GQ:PL	0/1:162,38:200:53:53,0,3511	19	0	2	0
chr9	131129294	131129294	C	T	exonic	NUP214	.	nonsynonymous SNV	NUP214:NM_001318324:exon4:c.C409T:p.R137C	Leukemia, T-cell acute lymphoblastic, somatic;Leukemia, acute myeloid, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.805	P	0.001	N	1.000	D	1.7	L	-3.33	D	0.640	D	0.811	D	0.727	3.487	17.84	5.67	2.680	2.272	13.700	0.616	0.0807370355609	.	0.000199681	0.0002	0	0	0	0	0	0	0.0015	0.0001682	26	154602	rs555034285	7.115e-05	7.114e-05	4.22e-05	0.0001	0.0010	5.981e-05	5.588e-05	0.0008	0.0008	0	0	0	0	0	0.0002	1.349e-05	3.312e-05	0.0010	4.596e-05	4.594e-05	2.57e-05	6.714e-05	0.0012	2.108e-05	1.526e-05	0.0005	0.0004	0	0	0	0	0	0	0	1.47e-05	0	0.0012	0.032	0.57480	D	0.015	0.83351	D	1.0	0.90584	D	0.805	0.58399	P	0.001492	0.38855	N	0.000000	0.999669	0.48141	D	2.14	0.59869	M	-3.33	0.93928	D	-3.13	0.80595	D	0.417	0.45709	0.640	0.92416	D	0.811	0.93629	D	10	0.053919464	0.05658	T	0.080737	0.73527	D	0.616	0.85039	0.437	0.48993	0.880420470531	0.87924	0.45773535944176413	0.45691	0.107737316608	0.12158	0.501794099808	0.39078	T	0.649263	0.89337	D	-0.0242667	0.48243	T	0.162287	0.80946	D	0.198747725035602	0.20347	T	0.907909	0.67748	D	0.13521133	0.31389	0.1440439	0.34211	0.2615141	0.49210	0.18097547	0.40931	-5.776	0.44496	T	.	.	0.184	0.39848	B	.;.;.	.;.;.	5.473066	0.91297	32	0.99926927094640872	0.99103	0.91371	0.53399	D	AEFBCI	0.311184	0.41699	N	0.507050539223267	0.67505	5.09073	0.507610124434922	0.68500	5.228837	0.999998858220955	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.67	5.67	0.87673	2.487000	0.44926	4.927000	0.46095	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.154:0.846:0.0:0.0	13.700	0.62084	370	0.84343	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1609.98	35	chr9	131129294	.	C	T	1609.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.035e+00;DP=789;ExcessHet=0.0000;FS=1.714;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.33;ReadPosRankSum=1.91;SOR=0.973	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1275	20	0	1	0
chr9	131197342	131197342	C	T	exonic	NUP214	.	nonsynonymous SNV	NUP214:NM_001318325:exon4:c.C326T:p.T109I	Leukemia, T-cell acute lymphoblastic, somatic;Leukemia, acute myeloid, somatic	.	9	1512	1	0	0	1	0.000330579	.	.	2349975	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.919	P	0.59	P	0.810	N	1.000	N	0	N	1.44	T	-0.953	T	0.101	T	0.138	2.395	13.97	1.47	0.001	1.156	10.948	0.083	0.0042363863583	0.0003	0.000199681	0.0002	9.61e-05	0	0	0	0.0003	0	0	0.0001811	28	154602	rs34991189	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0002	0.0001	0.0003	0	0.0053	0	0	0.0007	1.529e-05	0.0004	0	0.0002	0.0002	0.0002	0.0001	2.94e-05	0.0001	9.694e-05	4.88e-06	1.83e-06	2.406e-05	0	0	0.0063	0	0	0	2.94e-05	0	0	0.006	0.65419	D	0.017	0.60337	D	0.328	0.50927	B	0.165	0.50460	B	0.810258	0.06823	N	1.112770	1	0.08975	N	1.79	0.46772	L	1.43	0.50721	T	-1.75	0.56301	N	0.035	0.03956	-0.9527	0.40503	T	0.101	0.37316	T	10	0.0050494075	0.00109	T	0.004236	0.10216	T	0.083	0.24192	.	.	0.329587890251	0.32573	0.1873614788857129	0.18654	0.107884987876	0.12170	0.316495239735	0.12890	T	0.266674	0.63865	T	-0.318565	0.07015	T	-0.513845	0.20920	T	0.0576843801804572	0.06799	T	0.615039	0.29028	T	0.04014586	0.05677	0.061323777	0.11821	0.047109235	0.07997	0.061690826	0.11954	-4.286	0.27980	T	.	.	0.104	0.35602	B	.;.;.;.;.	.;.;.;.;.	1.189263	0.15807	12.11	0.97526864248371303	0.34437	0.29158	0.23747	N	AEFDGBCI	0.138529	0.25985	N	-0.88959605051235	0.11089	0.5332812	-0.933915292116966	0.11297	0.5746696	0.999992930304381	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.47	1.47	0.21832	1.205000	0.31914	-0.012000	0.13046	0.599000	0.40250	0.005000	0.17040	0.000000	0.08366	0.003000	0.05239	0.0:0.5457:0.385:0.0693	10.948	0.46527	419	0.81524	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2526.98	34	chr9	131197342	.	C	T	2526.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.368;DP=901;ExcessHet=0.0000;FS=2.461;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=0.804;SOR=0.539	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr9	131198745	131198745	A	G	exonic	NUP214	.	nonsynonymous SNV	NUP214:NM_001318325:exon4:c.A1729G:p.S577G	Leukemia, T-cell acute lymphoblastic, somatic;Leukemia, acute myeloid, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.394	B	0.202	B	0.016	N	0.998	N	0	N	1.76	T	-1.031	T	0.044	T	0.268	-0.666	1.085	3.48	1.033	5.386	4.747	0.082	0.00790367216351	.	0.00159744	0.0001	0.0002	0	0.0014	0	0	0	0.0002	0.0001746	27	154602	rs200498016	4.72e-05	4.788e-05	3.811e-05	5.638e-05	0.0005	3.794e-05	3.476e-05	0.0004	0.0003	5.974e-05	0	0	0.0005	0	0	1.799e-06	0.0002	0.0003	0.0001	0.0001	0.0001	0.0002	0.0025	9.735e-05	8.251e-05	0.0015	0.0012	0.0001	0	0	0	0.0025	0	0	1.47e-05	0	0.0006	0.821	0.06824	T	0.447	0.13177	T	0.008	0.28960	B	0.014	0.33005	B	0.016374	0.27995	N	0.254272	0.99788	0.22465	N	-0.075	0.04822	N	1.76	0.45248	T	0.29	0.04861	N	0.082	0.05799	-1.0312	0.20066	T	0.044	0.18783	T	10	0.008321047	0.00189	T	0.007904	0.20955	T	0.082	0.23913	.	.	0.55545566753	0.55204	0.23893538005424853	0.23807	0.0728183001178	0.08157	0.370341658592	0.20881	T	0.145773	0.48307	T	-0.463221	0.00938	T	-0.478694	0.24585	T	0.0310574353349895	0.02155	T	0.731327	0.35246	T	0.042111985	0.06328	0.029344931	0.01261	0.042111985	0.06327	0.029344931	0.01261	-2.323	0.04683	T	.	.	0.067	0.07177	B	.;.;.;.	.;.;.;.	1.765643	0.22456	15.63	0.5826292202069181	0.05954	0.58145	0.30563	D	AEFDGBCI	.	.	.	-0.440943956809382	0.24048	1.295761	-0.27874640830147	0.28799	1.608554	0.999998829384913	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.711	0.71501	0	.	.	5.81	3.48	0.38946	4.234000	0.58458	4.711000	0.44457	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.919000	0.45453	0.6104:0.0:0.3896:0.0	4.747	0.12415	416	0.81733	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2416.98	34	chr9	131198745	.	A	G	2416.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.850e-01;DP=956;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=0.393;SOR=0.724	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr9	131275935	131275935	T	C	exonic	FAM78A	.	nonsynonymous SNV	FAM78A:NM_033387:exon1:c.A245G:p.K82R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.0	B	0.0	B	0.018	N	1.000	N	-0.35	N	.	.	-1.020	T	0.029	T	0.102	1.363	10.48	2.54	0.323	0.733	4.041	0.017	0.00312101719364	0.0002	.	4.173e-05	0.0004	8.669e-05	0	0	0	0	0	3.23e-05	5	154602	rs377297897	1.3e-05	1.3e-05	1.362e-05	1.238e-05	0.0005	8.32e-06	6.7e-06	0.0003	0.0003	0.0005	0	0	0	0	0	0	1.656e-05	0	0.0001	0.0001	0.0001	0.0002	0.0005	9.745e-05	8.259e-05	0.0004	0.0003	0.0005	0	0	0	0	0	0	0	0	0	0.84	0.02811	T	0.81	0.03945	T	0.0	0.02946	B	0.0	0.01387	B	0.018336	0.27508	N	0.426241	0.760252	0.29546	N	-0.28	0.03718	N	.	.	.	0.44	0.03243	N	0.056	0.02759	-1.0203	0.23616	T	0.029	0.12453	T	9	0.024574608	0.00681	T	0.003121	0.06786	T	0.017	0.02790	.	.	0.181679512989	0.17746	0.1697966208250045	0.16899	0.593514449534	0.54694	0.459738969803	0.33274	T	0.016647	0.13717	T	-0.480365	0.00735	T	-0.570303	0.15422	T	0.0306352768374656	0.02088	T	0.579642	0.20943	T	0.050399333	0.09098	0.046821333	0.06608	0.050399333	0.09098	0.046821333	0.06608	-3.549	0.17125	T	.	.	0.054	0.00354	B	.	.	2.284385	0.29215	18.05	0.96863277798129677	0.31388	0.77443	0.38077	D	ALL	0.218509	0.34351	N	-0.705996378080122	0.15852	0.8026257	-0.508849118461663	0.21913	1.187651	0.999999940018314	0.74766	0.676563	0.55306	0	0.52208	0.09955	0	0.673471	0.61138	0	0.56214	0.19341	0	.	.	4.88	2.54	0.29674	0.506000	0.22367	0.178000	0.15598	0.651000	0.53179	1.000000	0.71638	0.991000	0.31484	0.958000	0.51230	0.1516:0.1654:0.0:0.683	4.041	0.09234	371	0.84287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1182.98	36	chr9	131275935	.	T	C	1182.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.400e-02;DP=785;ExcessHet=0.0000;FS=6.287;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.43;ReadPosRankSum=-4.590e-01;SOR=1.233	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1052	20	0	1	0
chr9	131475451	131475451	C	T	exonic	PRRC2B	.	nonsynonymous SNV	PRRC2B:NM_001384818:exon16:c.C3322T:p.R1108C	.	.	402	1114	6	0	0	6	0.00268577	.	.	2826523	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	.	.	1.000	D	2.085	M	1.52	T	-0.906	T	0.200	T	0.851	3.648	18.55	6.04	2.873	2.824	19.567	0.228	0.212511825935	8.5e-05	0.000399361	0.0005	0	0.0002	0	0	0.0001	0.0015	0.0032	0.0003558	55	154602	rs373454097	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	9.287e-05	0.0001	0	0	0	0.0007	4.196e-05	0.0004	0.0027	0.0001	0.0001	8.989e-05	0.0002	0.0021	9.141e-05	7.697e-05	0.0011	0.0009	2.405e-05	0	6.533e-05	0	0	0	0	0.0001	0.0005	0.0021	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.996	0.84481	D	.	.	.	.	0.999998	0.81001	D	2.16	0.60381	M	1.52	0.30669	T	-3.83	0.72120	D	0.789	0.78546	-0.9056	0.47378	T	0.200	0.55584	T	8	0.08855179	0.15258	T	0.212512	0.87359	D	0.228	0.52768	.	.	0.456809324625	0.45303	0.42774320314757375	0.42691	0.645929378351	0.58025	0.7350679636	0.72248	T	0.360978	0.72713	T	-0.16469	0.26042	T	-0.0127071	0.69507	D	0.212889161341194	0.21104	T	0.957504	0.83996	D	0.19360755	0.41077	0.15891966	0.37088	0.19360755	0.41077	0.15891966	0.37087	-5.498	0.41849	T	.	.	0.370	0.57847	A	.	.	4.643961	0.73957	26.1	0.99931175384050763	0.99387	0.97721	0.76654	D	AEFDGBCI	0.524572	0.54770	D	0.612003954263667	0.73930	6.04763	0.591478672962543	0.74327	6.118247	0.999999999858366	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.04	6.04	0.98025	2.305000	0.43324	5.920000	0.51151	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.505000	0.29129	0.0:1.0:0.0:0.0	19.567	0.95394	493	0.76500	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1291.98	67	chr9	131475451	.	C	T	1291.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.47;DP=1735;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=0.108;SOR=0.707	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,120,1800	20	0	1	0
chr9	131477754	131477754	G	A	exonic	PRRC2B	.	nonsynonymous SNV	PRRC2B:NM_001384823:exon16:c.G2335A:p.E779K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.998	D	0.806	P	0.001	U	1.000	D	1.79	L	4.17	T	-0.542	T	0.319	T	0.495	3.334	17.22	4.98	2.470	6.096	15.773	0.201	0.0225486478875	0.0020	0.000599042	0.0019	0.0005	0	0	0.0019	0.0030	0	0.0006	0.0016947	262	154602	rs192404714	0.0026	0.0026	0.0026	0.0026	0.0032	0.0025	0.0025	0.0031	0.0031	0.0007	0.0004	0.0003	0	0.0010	0	0.0032	0.0016	0.0006	0.0015	0.0015	0.0015	0.0015	0.0029	0.0013	0.0013	0.0026	0.0024	0.0004	0	0.0001	0.0009	0	0.0005	0	0.0029	0.0009	0.0002	0.003	0.68238	D	0.635	0.45961	T	0.993	0.65571	D	0.645	0.52270	P	0.000806	0.41658	U	0.000000	0.549854	0.81001	D	2.56	0.74772	M	4.08	0.03003	T	-1.64	0.57110	N	0.563	0.58713	-0.5421	0.67084	T	0.319	0.68822	T	10	0.009887159	0.00222	T	0.022549	0.45449	T	0.225	0.52323	.	.	0.0934897674506	0.08844	0.3248946040762868	0.32402	0.308008756825	0.33102	0.525519013405	0.42404	T	0.041331	0.25824	T	-0.402523	0.02229	T	-0.353079	0.38852	T	0.039525416748714	0.03604	T	0.945705	0.79334	D	0.26888698	0.49961	0.3543852	0.60984	0.26888698	0.49961	0.3543852	0.60983	-4.681	0.33173	T	.	.	0.206	0.45726	B	.;.	.;.	4.801428	0.78012	26.8	0.99883566726263118	0.95892	0.97474	0.74982	D	AEFDGBHCI	0.569643	0.57434	D	0.252800915797597	0.53778	3.545254	0.266345524611879	0.53586	3.526682	0.999999999723198	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.98	4.98	0.65679	4.744000	0.61813	9.890000	0.82266	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.403000	0.26849	0.0:0.0:1.0:0.0	15.773	0.77955	483	0.77230	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	266.98	29	chr9	131477754	.	G	A	266.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.030;DP=715;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.34;ReadPosRankSum=1.50;SOR=0.512	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1296	20	0	1	0
chr9	131477809	131477809	A	C	exonic	PRRC2B	.	nonsynonymous SNV	PRRC2B:NM_001384823:exon16:c.A2390C:p.Y797S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	1.0	D	0.996	D	0.002	U	1.000	D	1.7	L	4.34	T	-1.012	T	0.023	T	0.691	1.542	11.11	3.83	0.854	3.128	10.077	0.168	0.0756518760706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.345	0.50809	T	0.999	0.77913	D	0.994	0.82059	D	0.001839	0.37892	U	0.000000	0.999991	0.58761	D	2.51	0.73131	M	4.27	0.02513	T	-3.84	0.77143	D	0.538	0.56748	-1.0121	0.26259	T	0.023	0.09923	T	10	0.4968025	0.61314	T	0.075652	0.72340	D	0.168	0.42943	0.398	0.42590	0.189391138174	0.18552	0.5554234286003399	0.55469	0.334470090131	0.35464	0.394221782684	0.24263	T	0.256347	0.62724	T	-0.0203787	0.48800	T	-0.267049	0.48118	T	0.565563093515402	0.35065	D	0.888211	0.61727	D	0.22264552	0.44868	0.2599565	0.51752	0.22264552	0.44868	0.2599565	0.51751	-0.649	0.00683	T	.	.	0.107	0.25364	B	.;.	.;.	2.287237	0.29252	18.06	0.94977512766355476	0.25913	0.76889	0.37748	D	AEFDGBHCI	0.134290	0.25425	N	-0.185495193858954	0.33738	1.917504	-0.330531401015791	0.27117	1.502536	0.999999733851306	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.98	3.83	0.43287	2.359000	0.43797	5.342000	0.48348	-0.054000	0.16847	0.028000	0.20300	1.000000	0.68203	0.110000	0.18741	0.9204:0.0:0.0796:0.0	10.077	0.41539	483	0.77230	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1071	199.72	40	chr9	131477809	.	A	C	199.72	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-2.421e+00;DP=1077;ExcessHet=0.3300;FS=86.704;InbreedingCoeff=-0.1996;MLEAC=4;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=1.22;ReadPosRankSum=1.87;SOR=7.070	GT:AD:DP:GQ:PL	./.:44,0:44:0:0,0,1116	11	0	3	7
chr9	131478506	131478506	G	C	exonic	PRRC2B	.	nonsynonymous SNV	PRRC2B:NM_001384823:exon17:c.G2563C:p.G855R	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.998	D	0.958	D	0.027	U	1.000	D	1.445	L	4.58	T	-0.851	T	0.144	T	0.357	3.425	17.58	5.42	2.549	4.091	16.374	0.103	.	0.0002	0.00419329	0.0010	0.0005	0	0.0118	0.0002	0.0002	0.0011	0.0002	0.0010931	169	154602	rs201654931	0.0006	0.0006	0.0006	0.0006	0.0161	0.0006	0.0006	0.0151	0.0147	0.0002	0	0.0010	0.0161	3.746e-05	0.0003	6.387e-05	0.0013	0.0007	0.0007	0.0007	0.0007	0.0007	0.0132	0.0006	0.0005	0.0107	0.0097	0.0004	0	0	0.0017	0.0132	0	0	0.0002	0	0.0010	0.066	0.36113	T	0.579	0.09829	T	0.997	0.70673	D	0.909	0.64565	D	0.026772	0.25864	U	0.180712	1	0.81001	D	2.14	0.59869	M	4.27	0.02513	T	-1.8	0.45949	N	0.319	0.51761	-0.8513	0.51878	T	0.144	0.46678	T	10	0.0068279207	0.00155	T	.	.	.	0.154	0.40340	0.121	0.02793	0.158540857583	0.15491	0.3947180178259431	0.39386	0.597579573787	0.54949	0.501875638962	0.39089	T	0.029098	0.20925	T	-0.467424	0.00882	T	-0.436237	0.29229	T	0.0271859247219928	0.01570	T	0.917108	0.70302	D	0.10066169	0.23771	0.11908732	0.28744	0.10066169	0.23771	0.11908732	0.28744	-3.784	0.27980	T	.	.	0.237	0.47094	B	.;.	.;.	4.336591	0.66495	25.0	0.9991175947735853	0.98095	0.93866	0.59418	D	ALL	0.543410	0.55875	D	0.18636832772727	0.50545	3.243454	0.222443109555185	0.51096	3.295067	0.999999998137408	0.74766	0.77792	0.99625	0	0.697927	0.68747	0	0.854111	0.99894	0	0.741806	0.99463	0	.	.	5.42	5.42	0.78666	4.533000	0.60328	9.864000	0.82078	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.760000	0.36145	0.0:0.0:1.0:0.0	16.374	0.83213	479	0.77495	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	683.98	33	chr9	131478506	.	G	C	683.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.676e+00;DP=778;ExcessHet=0.0000;FS=4.249;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.05;ReadPosRankSum=9.000e-03;SOR=0.358	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1049	20	0	1	0
chr9	131519447	131519447	C	G	exonic	POMT1	.	nonsynonymous SNV	POMT1:NM_001353200:exon13:c.C1089G:p.S363R	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, Autosomal recessive	.	0	1496	26	0	0	26	0.00861498	.	.	172243	not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2K|Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B1|Walker-Warburg_congenital_muscular_dystrophy|not_provided|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1	MedGen:CN169374|MONDO:MONDO:0012248,MedGen:C1836373,OMIM:609308,Orphanet:86812|MONDO:MONDO:0013159,MedGen:C5436962,OMIM:613155|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orphanet:899|MedGen:C3661900|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670,Orphanet:588,Orphanet:899	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.48	T	0.112	B	0.051	B	0.014	N	0.980	N	1.87	L	-1.44	T	-0.560	T	0.518	D	0.757	0.551	6.981	4.63	1.269	1.197	4.627	0.508	0.158554645332	0.0007	0.000599042	0.0016	0	0.0026	0	0	0.0023	0.0053	0.0014	0.0006533	101	154602	rs150367385	0.0012	0.0011	0.0011	0.0012	0.0209	0.0011	0.0011	0.0178	0.0167	0.0005	0.0033	0.0034	0	0.0007	0.0209	0.0010	0.0020	0.0008	0.0012	0.0012	0.0012	0.0012	0.0028	0.0011	0.0010	0.0021	0.0019	0.0004	0	0.0028	0.0037	0	0.0008	0.0102	0.0013	0.0047	0.0006	0.181	0.26300	T	0.401	0.38450	T	0.0	0.26290	B	0.003	0.25434	B	0.013522	0.28812	N	0.466395	0.979977	0.25145	N	1.575	0.39704	L	-1.59	0.89692	D	-1.05	0.29323	N	0.784	0.87157	-0.5605	0.66385	T	0.518	0.81951	D	10	0.015325069	0.00322	T	0.158555	0.83893	D	0.508	0.78848	0.655	0.79276	0.879825153453	0.87865	0.4723707741962653	0.47156	0.278320214035	0.30320	0.427245855331	0.28833	T	0.297146	0.66976	T	-0.123257	0.32593	T	0.0471233	0.73395	D	0.0129226239014529	0.00223	T	0.855914	0.54393	D	0.03669951	0.04566	0.057629783	0.10508	0.038118996	0.05018	0.046753403	0.06587	-4.638	0.33979	T	0.21541397568556714	0.28961	0.306	0.59986	B	.;.;.;.;.;.	.;.;.;.;.;.	2.589032	0.33582	19.38	0.87287446252699985	0.17120	0.87046	0.46470	D	AEFDGBCI	0.432311	0.49424	N	-0.273315332885108	0.30181	1.680578	-0.159350550316487	0.33051	1.886534	0.991744367034224	0.32594	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.56	4.63	0.57175	1.254000	0.32500	3.925000	0.40497	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.321000	0.24994	0.1727:0.6348:0.0:0.1926	4.627	0.11867	406	0.82375	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	3433.11	43	chr9	131519447	.	C	G	3433.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.055e+00;DP=1058;ExcessHet=0.1072;FS=8.427;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=1.54;SOR=1.129	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	19	0	2	0
chr9	131525948	131525948	C	A	exonic	UCK1	.	nonsynonymous SNV	UCK1:NM_001135954:exon5:c.G538T:p.A180S,	.	.	441	12	103	962	4	2031	0.988298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	.	.	0.000	P	.	.	.	.	-1.006	T	0.084	T	.	1.509	11.00	-5.08	-1.075	-1.779	8.437	0.047	.	.	0.00359425	0.0115	0.0019	0.0029	0	0.0449	0.0153	0.0165	0.0005	0.0101616	1571	154602	rs2296957	0.0096	0.0096	0.0096	0.0095	0.0095	0.0094	0.0094	0.0093	0.0093	0.0010	0.0026	0.0129	0	0.0450	0.0040	0.0095	0.0079	0.0007	0.0100	0.0100	0.0094	0.0106	0.0126	0.0096	0.0094	0.0119	0.0117	0.0019	0.0022	0.0045	0.0130	0	0.0421	0.0102	0.0126	0.0076	0.0006	0.011	0.55530	D	0.243	0.24193	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.961213	0.81001	P	.	.	.	.	.	.	0.0	0.07008	N	0.172	0.18376	-1.0056	0.28277	T	0.084	0.32900	T	6	0.0025280416	0.00038	T	.	.	.	0.047	0.12962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.405995	0.02114	T	-0.339041	0.40452	T	0.00859621503851041	0.00105	T	0.247575	0.03662	T	.	.	.	.	.	.	.	.	-3.789	0.20640	T	.	.	0.073	0.04599	B	.	.	-0.350826	0.02404	0.268	0.94187066689665522	0.24411	0.05572	0.11472	N	AEFDGBI	0.025031	0.01647	N	-1.132785988659	0.06068	0.2783438	-1.18764225716248	0.06115	0.2933808	0.994168486267738	0.33516	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.97	-5.08	0.02708	-1.771000	0.01887	-0.905000	0.06976	-2.303000	0.00321	0.001000	0.13787	0.000000	0.08366	0.763000	0.36255	0.1735:0.394:0.4325:0.0	8.437	0.31954	419	0.81524	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.9048	62824.01	90	chr9	131525948	.	C	T,A	62824.01	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=-7.610e-01;DP=2393;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=60.00;MQRankSum=0.00;QD=26.87;ReadPosRankSum=0.558;SOR=0.662	GT:AD:DP:GQ:PL	1/1:0,123,0:123:99:3649,369,0,3649,369,3649	0	17	3	0
chr9	132725878	132725878	C	T	exonic	AK8	.	nonsynonymous SNV	AK8:NM_001371772:exon11:c.G1115A:p.R372H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	0.995	D	3.285	M	-0.42	T	0.309	D	0.564	D	0.5	4.249	22.1	5.08	2.342	5.174	13.950	0.539	0.129558991954	.	.	4.097e-05	0	0	0	0	5.283e-05	0	7.879e-05	2.59e-05	4	154602	rs755888977	2.33e-05	2.326e-05	2.862e-05	1.792e-05	0.0002	1.677e-05	1.48e-05	4.623e-05	3.404e-05	2.99e-05	2.254e-05	0	0	0	0.0002	1.89e-05	3.316e-05	9.378e-05	6.577e-06	6.569e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000025	0.55875	D	0.116709	0.995175	0.42575	D	3.49	0.92661	M	-0.42	0.69536	T	-4.56	0.78636	D	0.714	0.71676	0.309	0.87706	D	0.564	0.84147	D	10	0.85718286	0.84920	D	0.129559	0.81163	D	0.539	0.80723	.	.	0.789834181315	0.78788	0.619642485767567	0.61897	0.574172683107	0.53457	0.46187415719	0.33569	T	0.779004	0.94149	D	0.0721131	0.61104	D	-0.118705	0.61909	T	0.991107642650604	0.81360	D	0.920308	0.71149	D	0.6720244	0.76541	0.56724435	0.74949	0.6720244	0.76543	0.56724435	0.74949	-10.437	0.76485	D	.	.	0.399	0.59494	A	.	.	5.352689	0.89782	31	0.99925492942533878	0.99042	0.86917	0.46307	D	AEFDBI	0.544196	0.55921	D	0.767880790345983	0.84065	8.184431	0.667733189036445	0.79940	7.189311	0.997798948521063	0.36039	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.08	5.08	0.68373	5.646000	0.67590	7.443000	0.58891	0.580000	0.29708	0.999000	0.42656	1.000000	0.68203	0.957000	0.51019	0.0:1.0:0.0:0.0	13.950	0.63621	801	0.44448	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2916.98	34	chr9	132725878	.	C	T	2916.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=922;ExcessHet=0.0000;FS=1.073;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.76;ReadPosRankSum=0.072;SOR=0.587	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1248	20	0	1	0
chr9	133050814	133050814	G	A	exonic	GTF3C5	.	nonsynonymous SNV	GTF3C5:NM_001286709:exon2:c.G82A:p.E28K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.357	B	0.137	B	0.009	N	1.000	D	1.175	L	0.91	T	-1.036	T	0.104	T	0.277	1.971	12.55	5.16	2.387	5.544	17.619	0.113	0.0507683004165	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1397107421	3.421e-06	3.42e-06	4.085e-06	2.751e-06	0.0002	1e-06	7.3e-07	.	.	0	2.238e-05	0	0	0	0.0002	0	3.312e-05	1.16e-05	1.314e-05	1.313e-05	0	2.69e-05	0.0001	2.18e-06	8.2e-07	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	0	0	0	0.133	0.30375	T	0.281	0.21612	T	0.357	0.33788	B	0.046	0.31615	B	0.009100	0.30522	N	0.390144	0.999881	0.50402	D	1.725	0.44537	L	0.59	0.53943	T	-1.82	0.42763	N	0.352	0.43995	-1.0361	0.18513	T	0.104	0.38267	T	10	0.28073442	0.45649	T	0.050768	0.64379	D	0.113	0.31778	.	.	0.806917269854	0.80510	0.6818712015527778	0.68126	0.442441332991	0.44207	0.507613301277	0.39889	T	0.050241	0.28537	T	-0.158399	0.27006	T	-0.382441	0.35437	T	0.371706426143646	0.27863	T	0.914409	0.70110	D	0.2134201	0.43720	0.17007254	0.39089	0.2134201	0.43720	0.17007254	0.39088	-6.159	0.47590	T	.	.	0.324	0.58416	B	.;.;.;.;.;.	.;.;.;.;.;.	3.327460	0.45789	22.2	0.99652197275237453	0.77380	0.96816	0.71093	D	AEFDBI	0.590386	0.58690	D	-0.117926324208077	0.36613	2.118626	0.00311345529789708	0.39860	2.369829	0.999999999291303	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.16	5.16	0.70563	5.629000	0.67473	11.773000	0.95911	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.049000	0.15107	0.0:0.0:1.0:0.0	17.619	0.87978	962	0.08456	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	978.98	33	chr9	133050814	.	G	A	978.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.344;DP=789;ExcessHet=0.0000;FS=2.639;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.69;ReadPosRankSum=0.107;SOR=0.981	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1219	20	0	1	0
chr9	133071303	133071303	G	C	exonic	CEL	.	nonsynonymous SNV	CEL:NM_001807:exon11:c.G1801C:p.A601P,	Maturity-onset diabetes of the young, type VIII, Autosomal dominant	.	115	1368	29	5	5	44	0.0140541	.	.	1184208	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.04	D	0.993	D	0.796	P	.	.	1.000	N	1.895	L	-0.45	T	-0.739	T	0.328	T	0.283	2.865	15.54	-0.24	-0.016	-0.041	0.667	0.212	.	.	.	0.4112	0	0.2	0	.	0.3333	0	0.4727	0.0015006	232	154602	rs756704908	0.0080	0.0062	0.0070	0.0089	0.0279	0.0078	0.0077	0.0266	0.0261	0.0012	0.0046	0.0171	0.0008	0.0072	0.0214	0.0057	0.0072	0.0279	0.0027	0.0039	0.0026	0.0029	0.0139	0.0024	0.0023	0.0093	0.0078	0.0005	0.0034	0.0028	0.0101	0.0008	0.0019	0	0.0031	0.0032	0.0139	0.003	0.68238	D	0.024	0.56640	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.45	0.69896	T	-0.46	0.14978	N	0.12	0.11054	-0.7390	0.58504	T	0.328	0.69631	T	9	0.002461046	0.00037	T	.	.	.	0.212	0.50341	.	.	.	.	0.07351690158995682	0.07288	1.00469648732	0.74536	0.776454806328	0.78393	T	0.019292	0.15396	T	-0.399635	0.02328	T	-0.319665	0.42611	T	0.0485864028472388	0.05248	T	0.948505	0.80194	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.24599	B	.	.	2.200563	0.28064	17.67	0.9907478307719837	0.51810	0.03018	0.07894	N	AEFHCI	0.147376	0.27103	N	-0.586236619627421	0.19362	1.012727	-0.849127286812922	0.13309	0.6896853	0.117021367542883	0.16792	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.13	-0.24	0.12403	0.089000	0.14843	0.179000	0.15609	0.332000	0.19570	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2463:0.1872:0.3758:0.1907	0.667	0.00798	962	0.08456	Mucin-like domain	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	0	0	0.04762	625.11	30	chr9	133071303	.	G	C	625.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.212e+00;DP=570;ExcessHet=0.1072;FS=2.932;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.43;MQRankSum=0.213;QD=10.60;ReadPosRankSum=0.461;SOR=1.769	GT:AD:DP:GQ:PL	0/0:23,0:23:60:0,60,893	19	0	2	0
chr9	133071615	133071647	CCCACGGGTGACTCCGAGACCGCCCCCGTGCCG	-	exonic	CEL	.	nonframeshift deletion	CEL:NM_001807:exon11:c.2113_2145del:p.E710_S720del,	Maturity-onset diabetes of the young, type VIII, Autosomal dominant	.	24	1475	14	1	8	24	0.00539447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0529	0.0229	0.0257	0.0016	0.0900	0.0871	0.0267	0.0167	0.0014215	37	26028	rs774195156	0.0075	0.0076	0.0069	0.0081	0.0075	0.0074	0.0073	0.0074	0.0073	0.0026	0.0037	0.0047	0.0003	0.0259	0.0012	0.0075	0.0084	0.0053	0.0098	0.0100	0.0102	0.0094	0.0158	0.0094	0.0092	0.0149	0.0146	0.0031	0.0044	0.0053	0.0040	0.0003	0.0148	0	0.0158	0.0073	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2515.64	40	chr9	133071614	.	CCCCACGGGTGACTCCGAGACCGCCCCCGTGCCG	C	2515.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.100e-01;DP=838;ExcessHet=0.3300;FS=2.114;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=59.62;MQRankSum=-4.050e-01;QD=15.43;ReadPosRankSum=0.884;SOR=0.923	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,115,1301	18	0	3	0
chr9	133208141	133208141	T	A	exonic	OBP2B	.	nonsynonymous SNV	OBP2B:NM_001288987:exon3:c.A269T:p.Y90F	.	.	654	836	30	2	0	34	0.0199297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.393	B	0.257	B	0.027	N	1.000	N	0.695	N	3.25	T	-0.959	T	0.012	T	0.248	-1.377	0.025	0.679	-0.219	-0.353	5.651	0.069	.	.	.	0.0079	0.0137	0.0018	0.0039	0.0052	0.0106	0.0048	0.0011	3.84e-05	1	26028	rs1413608059	0.0005	0.0049	0.0004	0.0007	0.0009	0.0005	0.0005	0.0007	0.0007	0.0003	0.0007	0.0004	0.0007	0.0023	0.0002	0.0004	0.0007	0.0009	0.0004	0.0040	0.0004	0.0003	0.0009	0.0003	0.0003	0.0003	0.0003	0.0002	0.0012	0.0002	0	0.0004	0.0004	0	0.0005	0.0010	0.0009	0.297	0.14645	T	0.337	0.18178	T	0.393	0.34680	B	0.257	0.39298	B	0.026576	0.25897	N	0.188123	1	0.19238	N	1.055	0.26876	L	3.25	0.06762	T	-2.4	0.52776	N	0.141	0.20262	-0.9592	0.39330	T	0.012	0.04795	T	10	0.0057539046	0.00128	T	.	.	.	0.069	0.20116	.	.	0.0297737177859	0.01360	0.3454499937520817	0.34458	0.164113916074	0.18517	0.433351457119	0.29667	T	0.033824	0.23072	T	-0.290422	0.09595	T	-0.654947	0.08611	T	0.0220651653645309	0.00916	T	0.417158	0.10968	T	0.052634977	0.09844	0.045453	0.06119	0.052634977	0.09844	0.045453	0.06119	-5.794	0.44522	T	.	.	0.071	0.11124	B	.;.;.	.;.;.	-0.024567	0.04115	0.974	0.14583370763224782	0.00327	0.00218	0.01233	N	AEFDBI	0.012910	0.00155	N	-1.56437998921638	0.01452	0.06336967	-1.64152865485638	0.01420	0.06421677	0.00212614337787241	0.09174	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	1.91	0.679	0.17141	-0.405000	0.07258	-1.122000	0.06265	-1.135000	0.01450	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.2549:0.0:0.0:0.7451	5.651	0.16894	.	.	Lipocalin/cytosolic fatty-acid binding domain;Lipocalin/cytosolic fatty-acid binding domain;Lipocalin/cytosolic fatty-acid binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	728.29	13	chr9	133208141	.	T	A	728.29	.	AC=4;AF=0.100;AN=40;BaseQRankSum=0.587;DP=409;ExcessHet=0.7148;FS=3.670;InbreedingCoeff=-0.0039;MLEAC=4;MLEAF=0.100;MQ=55.70;MQRankSum=-4.259e+00;QD=8.28;ReadPosRankSum=0.216;SOR=0.315	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:20,2:22:15:.:.:15,0,541	16	0	4	1
chr9	133255805	133255805	T	C	exonic	ABO	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0031	0.00319489	0.0010	0.0117	0.0002	0	0	0	0	0	0.0009185	142	154602	rs56346931	0.0003	0.0003	0.0003	0.0003	0.0118	0.0003	0.0003	0.0109	0.0105	0.0118	0.0003	0	0	0	0	2.698e-06	0.0007	3.478e-05	0.0034	0.0034	0.0035	0.0033	0.0121	0.0031	0.0030	0.0112	0.0109	0.0121	0	0.0007	0	0	0	0	1.471e-05	0.0009	0.0002	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.51761	.	.	.	.	.	.	.	0.007813156	0.00177	T	.	.	.	.	.	.	.	0.0846915920261	0.08053	0.5589776775111819	0.55824	.	.	0.572008550167	0.48963	T	0.475037	0.80624	T	-0.146914	0.28795	T	0.0265795	0.72056	D	.	.	.	0.747125	0.37284	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.912	0.86195	P	.;.	.;.	3.898439	0.56773	23.8	0.69003929178128165	0.08834	0.65068	0.32614	D	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.985477290272221	0.30894	0.056701	0.00814	0	0.059962	0.00310	0	0.074216	0.02223	0	0.058706	0.01089	0	0.158645	0.27979	4.38	3.19	0.35720	1.966000	0.40105	0.805000	0.21696	0.640000	0.52149	0.986000	0.36153	0.916000	0.28226	0.949000	0.49496	0.0:0.0:0.1704:0.8296	10.041	0.41331	922	0.19044	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1343.98	36	chr9	133255805	.	T	C	1343.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.400e-01;DP=1601;ExcessHet=0.0000;FS=7.139;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=-9.850e-01;SOR=0.588	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1342	20	0	1	0
chr9	133256235	133256235	T	-	exonic	ABO	.	unknown	UNKNOWN,	.	.	424	1075	23	0	0	23	0.0105844	.	.	2738108	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0.00319489	0.0036	0.0005	0.0008	0	0.0005	0.0024	0.0035	0.0144	0.0006147	16	26028	rs563704490	0.0033	0.0033	0.0029	0.0037	0.0146	0.0033	0.0032	0.0140	0.0137	0.0002	0.0009	0	0	0.0003	0.0062	0.0030	0.0037	0.0146	0.0019	0.0019	0.0019	0.0020	0.0128	0.0017	0.0017	0.0103	0.0094	0.0005	0	0.0008	0	0.0002	0.0002	0.0068	0.0028	0.0014	0.0128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2270.94	45	chr9	133256234	.	GT	G	2270.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.616;DP=1065;ExcessHet=0.0000;FS=2.854;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.11;ReadPosRankSum=-3.860e-01;SOR=0.482	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1342	20	0	1	0
chr9	133256248	133256248	G	A	exonic	ABO	.	unknown	UNKNOWN,	.	.	421	1083	18	0	0	18	0.00824176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.000599042	0.0012	0.0008	0.0008	0	0	0.0015	0.0047	0.0013	0.0010026	155	154602	rs200932155	0.0009	0.0009	0.0007	0.0010	0.0163	0.0008	0.0008	0.0136	0.0126	0.0008	0.0009	0.0067	2.519e-05	0	0.0163	0.0006	0.0017	0.0020	0.0008	0.0008	0.0008	0.0008	0.0021	0.0007	0.0007	0.0011	0.0009	0.0002	0	0.0010	0.0069	0	0	0.0136	0.0008	0.0043	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1715.98	45	chr9	133256248	.	G	A	1715.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.178;DP=1049;ExcessHet=0.0000;FS=2.964;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=0.365;SOR=0.988	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1342	20	0	1	0
chr9	133400467	133400467	A	C	exonic	STKLD1	.	nonsynonymous SNV	STKLD1:NM_153710:exon12:c.A1136C:p.H379P,	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.987	D	0.694	P	0.000	D	1.000	N	2.125	M	0.52	T	-0.559	T	0.374	T	0.753	3.025	16.09	4.69	1.950	3.854	10.437	0.428	0.246884017737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	0	1.376e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.0	0.92824	D	0.987	0.61912	D	0.694	0.53938	P	0.000001	0.62929	D	0.000000	0.999997	0.08975	N	.	.	.	-0.49	0.70365	T	-6.13	0.90100	D	0.581	0.60241	-0.5594	0.66427	T	0.374	0.73272	T	10	0.9033114	0.89695	D	0.246884	0.88946	D	0.428	0.73517	0.695	0.83219	0.538097488659	0.53462	0.6087356749912478	0.60805	0.543882179362	0.51451	.	.	.	0.219431	0.58244	T	0.0880837	0.62972	D	-0.0143962	0.69397	D	0.8922398686409	0.54330	D	0.405859	0.10416	T	0.41660953	0.61865	0.5497884	0.73970	0.41660953	0.61866	0.5497884	0.73970	-10.233	0.75294	D	.	.	0.474	0.63381	A	.	.	3.212399	0.43735	21.8	0.92972630634471787	0.22552	0.36211	0.25481	N	AEFDGBHCI	0.217239	0.34239	N	0.0794582208197005	0.45506	2.805904	-0.0654175682371299	0.36829	2.148458	0.999999862223196	0.74766	0.421363	0.06395	0	0.550933	0.16991	0	0.514364	0.09456	0	0.664235	0.64389	0	.	.	4.69	4.69	0.58546	3.771000	0.55027	7.399000	0.58563	0.740000	0.86194	0.479000	0.26792	1.000000	0.68203	0.004000	0.06068	1.0:0.0:0.0:0.0	10.437	0.43629	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	958.98	33	chr9	133400467	.	A	C	958.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.738e+00;DP=801;ExcessHet=0.0000;FS=1.550;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.96;ReadPosRankSum=0.786;SOR=0.856	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr9	133412859	133412859	G	A	exonic	REXO4	.	nonsynonymous SNV	REXO4:NM_001279350:exon3:c.C224T:p.A75V	.	.	425	1089	8	0	0	8	0.00365965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.816	P	0.085	B	0.000	D	1.000	D	2.165	M	2.01	T	-0.981	T	0.076	T	0.718	4.094	21.1	5.13	2.395	7.099	17.557	0.154	0.0287614879275	7.7e-05	0.000998403	0.0008	0	0	0	0	4.511e-05	0.0022	0.0058	0.0007244	112	154602	rs139090649	0.0005	0.0005	0.0003	0.0006	0.0052	0.0005	0.0004	0.0048	0.0046	2.987e-05	4.472e-05	0	2.519e-05	0	0.0002	0.0002	0.0003	0.0052	0.0002	0.0002	0.0001	0.0003	0.0046	0.0002	0.0001	0.0031	0.0026	4.81e-05	0	0	0	0	0	0	0.0001	0.0005	0.0046	0.057	0.37966	T	0.099	0.92824	T	0.816	0.45573	P	0.085	0.29395	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.67	0.42885	L	2.01	0.28189	T	-2.63	0.56466	D	0.428	0.46742	-0.9808	0.34817	T	0.076	0.30645	T	10	0.008217901	0.00186	T	0.028761	0.51384	D	0.154	0.40340	.	.	0.661333968228	0.65849	0.7696014770040387	0.76909	0.292443378065	0.31661	0.454005658627	0.32492	T	0.113201	0.43006	T	-0.286375	0.10002	T	-0.182905	0.56254	T	0.0555135360597435	0.06443	T	0.760924	0.38803	T	0.3463074	0.56778	0.31109592	0.57117	0.3463074	0.56778	0.31109592	0.57116	-9.366	0.70022	D	.	.	0.234	0.47600	B	.;.	.;.	4.786944	0.77651	26.7	0.9987822158636005	0.95491	0.96337	0.68646	D	AEFBCI	0.786355	0.71646	D	0.417084493693013	0.62360	4.450792	0.480800233503021	0.66717	4.988826	0.999999999999896	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.13	5.13	0.69729	7.216000	0.77471	9.797000	0.81675	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:0.0:1.0:0.0	17.557	0.87794	911	0.21964	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2083.98	38	chr9	133412859	.	G	A	2083.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.863;DP=898;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=-1.199e+00;SOR=0.716	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1283	20	0	1	0
chr9	133444936	133444936	G	A	exonic	ADAMTS13	.	nonsynonymous SNV	ADAMTS13:NM_139025:exon20:c.G2494A:p.V832M	Thrombotic thrombocytopenic purpura, familial, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	700873	not_specified|not_provided|Upshaw-Schulman_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010122,MedGen:C1268935,OMIM:274150,Orphanet:93583	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.966	D	0.409	B	.	.	1.000	N	1.79	L	-0.38	T	-0.913	T	0.142	T	0.103	2.501	14.32	3.37	1.338	0.647	11.959	0.086	.	0.0041	0.00399361	0.0012	0.0136	0.0003	0	0	0	0	0	0.0011319	175	154602	rs34104386	0.0004	0.0004	0.0004	0.0003	0.0132	0.0003	0.0003	0.0122	0.0118	0.0132	0.0006	0	0	0	0.0002	7.194e-06	0.0009	4.637e-05	0.0043	0.0043	0.0045	0.0041	0.0153	0.0040	0.0039	0.0143	0.0139	0.0153	0	0.0007	0	0	0	0	4.41e-05	0.0024	0.0002	0.13	0.26740	T	0.066	0.44905	T	0.966	0.56202	D	0.232	0.44752	B	.	.	.	.	1	0.08975	N	2.215	0.62545	M	-0.38	0.69287	T	-0.77	0.24460	N	0.266	0.32259	-0.9127	0.46518	T	0.142	0.46275	T	9	0.004549414	0.00094	T	.	.	.	0.140	0.37593	.	.	0.809923124787	0.80813	0.6045723056840248	0.60388	0.671362716548	0.59455	0.430094748735	0.29221	T	0.061245	0.31604	T	-0.537516	0.00347	T	-0.532557	0.19032	T	0.0213710937645604	0.00840	T	0.532847	0.17735	T	0.026491724	0.01714	0.1025441	0.24581	0.023574866	0.01108	0.08303248	0.18998	-7.439	0.57877	T	.	.	0.105	0.24666	B	.;.;.	.;.;.	0.717189	0.10865	7.538	0.99585899389228183	0.73277	0.08560	0.14472	N	AEFDGBI	0.134919	0.25509	N	-0.296845092186339	0.29270	1.621702	-0.425121597665193	0.24264	1.327662	0.578616599796846	0.21552	0.695654	0.57023	0	0.659912	0.62753	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	5.55	3.37	0.37692	0.850000	0.27389	0.051000	0.14001	0.656000	0.54149	0.005000	0.17040	0.000000	0.08366	0.022000	0.11911	0.1704:0.0:0.8296:0.0	11.959	0.52283	779	0.47767	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1724.98	35	chr9	133444936	.	G	A	1724.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.015e+00;DP=829;ExcessHet=0.0000;FS=1.349;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=-3.320e-01;SOR=0.541	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1049	20	0	1	0
chr9	133479040	133479040	C	T	exonic	SLC2A6	.	nonsynonymous SNV	SLC2A6:NM_001145099:exon1:c.G20A:p.G7E	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.421	B	0.116	B	0.931	N	0.838	N	0	N	-1.4	T	-0.629	T	0.432	T	0.305	3.014	16.05	3.4	1.830	1.214	12.825	0.229	0.700266463894	.	.	1.268e-05	0	0	0	0	0	0	7.983e-05	6.5e-06	1	154602	rs782192810	4.148e-06	4.104e-06	1.375e-06	6.949e-06	0.0002	1.49e-06	9.8e-07	1.598e-05	9.4e-06	0	0	0	0	0	0.0002	9.026e-07	0	4.705e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.13175	T	0.274	0.22084	T	0.275	0.35387	B	0.087	0.31939	B	0.930809	0.07534	N	1.040500	0.838043	0.28669	N	1.78	0.46185	L	-1.4	0.90083	T	-0.02	0.08187	N	0.373	0.41459	-0.6292	0.63605	T	0.432	0.77355	T	10	0.21115926	0.37535	T	0.700266	0.97546	D	0.229	0.52916	0.21	0.12781	0.830304406463	0.82869	0.7215502753063897	0.72099	0.438240894955	0.43858	0.787265658379	0.80027	T	0.00833	0.07654	T	0.0229976	0.54785	T	-0.204742	0.54198	T	0.233536579033325	0.22119	T	.	.	.	0.138665	0.32062	0.28702962	0.54713	0.138665	0.32062	0.28702962	0.54712	-5.41	0.41016	T	.	.	0.093	0.21541	B	.;.;.	.;.;.	3.615821	0.51140	23.1	0.98377555431162667	0.40822	0.38858	0.26083	N	ALL	0.188771	0.31604	N	-0.679695519429623	0.16601	0.8472733	-0.554407877183862	0.20689	1.115805	0.99999999997611	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.56214	0.19341	0	.	.	3.4	3.4	0.38031	2.265000	0.42968	5.535000	0.48855	0.444000	0.21144	0.862000	0.30648	0.993000	0.31925	0.780000	0.36908	0.0:1.0:0.0:0.0	12.825	0.57099	763	0.50172	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	509.98	38	chr9	133479040	.	C	T	509.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.695;DP=700;ExcessHet=0.0000;FS=2.884;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=-1.131e+00;SOR=0.797	GT:AD:DP:GQ:PL	0/0:33,0:33:96:0,96,1440	20	0	1	0
chr9	133568440	133568440	G	A	exonic	ADAMTSL2	.	nonsynonymous SNV	ADAMTSL2:NM_001145320:exon14:c.G2042A:p.R681Q	Geleophysic dysplasia 1, Autosomal recessive	.	0	1472	48	2	0	52	0.0173565	.	.	317572	Geleophysic_dysplasia_1|not_specified	MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.49	T	0.625	P	0.184	B	0.057	U	0.792	D	0.145	N	0.18	T	-1.018	T	0.071	T	0.185	0.824	8.321	2.33	1.823	4.848	5.737	0.115	0.0677937102145	.	.	.	.	.	.	.	.	.	.	0.0001423	22	154602	rs553955759	0.0026	0.0026	0.0021	0.0030	0.0155	0.0025	0.0025	0.0148	0.0145	0.0003	0.0018	0.0059	0	0.0005	0.0139	0.0017	0.0034	0.0155	0.0019	0.0019	0.0018	0.0021	0.0157	0.0017	0.0017	0.0129	0.0118	0.0003	0.0154	0.0016	0.0049	0	0.0004	0.0068	0.0020	0.0033	0.0157	0.656	0.04757	T	0.173	0.30926	T	0.153	0.28093	B	0.046	0.24676	B	0.056906	0.22522	U	0.383809	0.791671	0.34394	D	-0.315	0.03579	N	0.18	0.60361	T	0.06	0.07444	N	0.253	0.30574	-1.0182	0.24301	T	0.071	0.28839	T	10	0.015201479	0.00319	T	0.067794	0.70268	D	0.115	0.32236	0.458	0.52427	0.524114710501	0.52058	0.24345535029889892	0.24259	0.615439663432	0.56025	0.431416332722	0.29402	T	0.010579	0.09538	T	-0.151241	0.28116	T	-0.455024	0.27144	T	0.846595525741577	0.49875	D	0.939106	0.77081	D	0.046599776	0.07827	0.04282447	0.05189	0.046599776	0.07827	0.04282447	0.05189	-7.067	0.54522	T	.	.	0.070	0.05535	B	.;.;.	.;.;.	4.219439	0.63804	24.6	0.98661567374471526	0.44345	0.70643	0.34675	D	AEFBI	0.216493	0.34173	N	-0.384201033348936	0.26032	1.417627	-0.30350875060374	0.27986	1.556885	0.00216984613625388	0.09203	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	3.25	2.33	0.27981	4.335000	0.59081	5.393000	0.48489	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.2674:0.0:0.7326:0.0	5.737	0.17339	779	0.47767	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2538.98	33	chr9	133568440	.	G	A	2538.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.160e-01;DP=981;ExcessHet=0.0000;FS=4.282;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=0.520;SOR=1.015	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1230	20	0	1	0
chr9	133636447	133636447	G	A	exonic	DBH	.	nonsynonymous SNV	DBH:NM_000787:exon1:c.G76A:p.V26M,	Dopamine beta-hydroxylase deficiency, Autosomal recessive	.	0	1486	35	1	0	37	0.0122964	.	.	711829	Orthostatic_hypotension_1|not_provided	MONDO:MONDO:0009123,MedGen:C4746777,OMIM:223360,Orphanet:230|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.01	D	0.933	P	0.486	P	0.000	D	0.985	D	2.19	M	0.75	T	-0.815	T	0.144	T	0.35	3.359	17.32	4.6	2.597	1.009	5.443	0.136	.	0.0032	0.00339457	0.0059	0.0007	0.0015	0	0.0098	0.0063	0.0102	0.0117	0.0051487	796	154602	rs76856960	0.0042	0.0042	0.0038	0.0047	0.0121	0.0042	0.0041	0.0115	0.0113	0.0007	0.0013	0.0002	2.52e-05	0.0081	0.0087	0.0039	0.0040	0.0121	0.0038	0.0038	0.0036	0.0040	0.0135	0.0035	0.0034	0.0108	0.0099	0.0006	0	0.0011	0	0	0.0077	0.0068	0.0055	0.0024	0.0135	0.047	0.40319	D	0.12	0.35970	T	0.933	0.52105	P	0.486	0.47228	P	0.000153	0.49130	D	0.142348	0.984519	0.40156	D	2.655	0.77738	M	0.61	0.53516	T	-0.67	0.19297	N	0.435	0.47395	-0.8147	0.54263	T	0.144	0.46732	T	10	0.008224636	0.00187	T	.	.	.	0.136	0.36778	.	.	0.587841187436	0.58458	0.4972692727210983	0.49647	0.252428851654	0.27810	0.543708086014	0.44969	T	0.255027	0.62576	T	-0.418534	0.01747	T	-0.36294	0.37713	T	0.0253813861061539	0.01323	T	0.89581	0.63671	D	0.05349568	0.10131	0.076630645	0.16992	0.06468914	0.13749	0.076630645	0.16992	-4.296	0.28121	T	.	.	0.124	0.34049	B	.;.	.;.	3.895074	0.56705	23.8	0.99857819670913306	0.93639	0.73113	0.35768	D	AEFDGBCIJ	0.319942	0.42319	N	0.339657049294887	0.58197	3.990484	0.328536396701428	0.57223	3.887275	0.997235787048308	0.35404	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.5	4.6	0.56512	1.197000	0.31819	9.733000	0.81406	0.618000	0.50648	0.721000	0.28831	1.000000	0.68203	0.929000	0.46594	0.0763:0.1423:0.6343:0.1472	5.443	0.15817	850	0.35610	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2387.98	34	chr9	133636447	.	G	A	2387.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.325e+00;DP=851;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.81;ReadPosRankSum=1.34;SOR=0.714	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1113	20	0	1	0
chr9	133717394	133717394	A	G	exonic	SARDH	.	nonsynonymous SNV	SARDH:NM_001134707:exon8:c.T1082C:p.I361T	.	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.67	P	0.596	P	0.002	N	1.000	D	1.76	L	-1.54	D	0.052	D	0.505	D	0.898	2.769	15.22	3.95	1.438	7.367	12.849	0.797	0.294216014666	7.7e-05	.	4.122e-05	9.614e-05	0	0	0	4.501e-05	0	6.056e-05	4.53e-05	7	154602	rs143784117	3.968e-05	3.967e-05	4.22e-05	3.713e-05	0.0002	3.113e-05	2.847e-05	5.849e-05	3.758e-05	0.0001	0	0	0	0	0.0002	4.407e-05	4.967e-05	0	8.539e-05	8.531e-05	0.0001	5.374e-05	0.0002	4.955e-05	3.961e-05	7.874e-05	5.576e-05	0.0002	0	6.536e-05	0	0	0	0	5.881e-05	0.0005	0	0.147	0.25355	T	0.193	0.28391	T	0.67	0.41173	P	0.596	0.50617	P	0.001735	0.38161	N	0.218517	0.999999	0.58761	D	2.255	0.64187	M	-1.54	0.81640	D	-2.9	0.60827	D	0.758	0.75834	0.052	0.83276	D	0.505	0.81334	D	10	0.8478263	0.83953	D	0.294216	0.90667	D	0.797	0.93346	.	.	0.745224696081	0.74293	0.8565785181832601	0.85620	0.522592563707	0.49982	0.530936300755	0.43167	T	0.531144	0.85666	D	0.194765	0.73403	D	0.278658	0.87055	D	0.656473577022552	0.38742	D	0.848915	0.53448	T	0.26707503	0.49779	0.27545303	0.53482	0.26707503	0.49778	0.27545303	0.53481	-15.808	0.97459	D	.	.	0.172	0.54027	B	.;.;.;.	.;.;.;.	3.927786	0.57385	23.9	0.99571547267459626	0.72440	0.96961	0.71893	D	AEFDGBI	0.933530	0.92556	D	0.26755089688207	0.54512	3.616568	0.242982106658059	0.52251	3.401218	0.999999999996424	0.74766	0.661447	0.50134	0	0.59043	0.45803	0	0.644132	0.48003	0	0.620846	0.47308	0	.	.	3.95	3.95	0.44952	7.355000	0.78690	7.650000	0.63651	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.641000	0.32449	1.0:0.0:0.0:0.0	12.849	0.57233	842	0.36989	FAD dependent oxidoreductase;FAD dependent oxidoreductase;FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1191.98	37	chr9	133717394	.	A	G	1191.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.091;DP=811;ExcessHet=0.0000;FS=2.257;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.34;ReadPosRankSum=-1.710e-01;SOR=0.420	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1117	20	0	1	0
chr9	134050585	134050585	G	A	exonic	BRD3	.	nonsynonymous SNV	BRD3:NM_007371:exon5:c.C503T:p.T168I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.023	B	0.026	B	0.163	N	0.942	D	1.08	L	-0.09	T	-0.860	T	0.187	T	0.229	2.516	14.37	4.97	2.451	4.265	17.570	0.047	0.0505642804713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.21144	T	0.147	0.32783	T	0.023	0.18885	B	0.014	0.20792	B	0.163145	0.17600	N	0.551904	0.942321	0.37367	D	0.575	0.15311	N	-0.09	0.64086	T	-0.26	0.12661	N	0.161	0.19055	-0.8595	0.51298	T	0.187	0.53767	T	10	0.13460177	0.25616	T	0.050564	0.64295	D	0.047	0.12962	0.283	0.23961	0.322284741503	0.31843	0.2016742107606698	0.20084	0.790290557923	0.65750	0.524584293365	0.42273	T	0.06015	0.31309	T	-0.109618	0.34832	T	-0.395235	0.33940	T	0.352939188480377	0.27134	T	0.686731	0.29555	T	0.07630973	0.17248	0.0738956	0.16108	0.07630973	0.17248	0.0738956	0.16108	-5.735	0.44487	T	.	.	0.092	0.14888	B	.;.	.;.	3.364186	0.46455	22.3	0.98530277326719562	0.42582	0.96718	0.70568	D	AEFDBI	0.453679	0.50671	N	-0.0920747557245134	0.37740	2.200029	0.0870507471074732	0.43895	2.681951	0.999999999714893	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.97	4.97	0.65419	4.333000	0.59070	7.463000	0.59074	0.676000	0.76740	0.953000	0.33222	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	17.570	0.87830	463	0.78548	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1445.98	34	chr9	134050585	.	G	A	1445.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.710e-01;DP=834;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=-8.570e-01;SOR=0.715	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1182	20	0	1	0
chr9	134421677	134421677	C	T	exonic	RXRA	.	nonsynonymous SNV	RXRA:NM_001291921:exon5:c.C491T:p.P164L	.	.	427	1094	1	0	0	1	0.00045683	0.0139	0.11	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.141	B	0.014	B	0.000	D	1.000	D	1.335	L	0.71	T	-1.016	T	0.105	T	0.765	2.245	13.47	4.51	2.055	7.420	17.258	0.290	.	.	0.00299521	0.0009	0	8.708e-05	0.0001	0	4.688e-05	0.0038	0.0095	0.0009767	151	154602	rs2234960	0.0005	0.0005	0.0003	0.0007	0.0074	0.0004	0.0004	0.0069	0.0067	3.065e-05	0	0	2.559e-05	0	0.0004	5.834e-05	0.0003	0.0074	0.0003	0.0003	0.0002	0.0003	0.0072	0.0002	0.0002	0.0054	0.0047	0	0	0	0	0.0002	0	0	4.412e-05	0.0005	0.0072	0.05	0.39575	D	0.116	0.36497	T	0.141	0.27581	B	0.014	0.16862	B	0.000356	0.45440	D	0.229986	1	0.81001	D	1.825	0.47900	L	0.71	0.51228	T	-3.61	0.69477	D	0.416	0.45615	-1.0159	0.25045	T	0.105	0.38562	T	10	0.009608179	0.00216	T	.	.	.	0.290	0.60924	0.104	0.01698	0.889384210098	0.88829	0.7269824113318207	0.72642	1.22001278957	0.81056	0.794239640236	0.81087	T	0.411849	0.76618	T	-0.227628	0.16963	T	-0.0944801	0.63821	T	0.171345764056065	0.18671	T	0.945105	0.79107	D	0.31944543	0.54593	0.20539339	0.44706	0.3289293	0.55383	0.23977481	0.49334	-10.457	0.76600	D	0.12133314221763428	0.11504	0.125	0.26263	B	.	.	4.191399	0.63170	24.5	0.96168104791119069	0.28920	0.94997	0.63064	D	AEFDGBHCI	0.937287	0.93485	D	-0.211744992828363	0.32652	1.84371	-0.0944927031133889	0.35618	2.062782	0.999999999997299	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.51	4.51	0.54589	7.548000	0.81103	7.424000	0.58739	0.548000	0.25860	1.000000	0.71638	1.000000	0.68203	0.139000	0.19909	0.0:1.0:0.0:0.0	17.258	0.86948	784	0.47045	Nuclear hormone receptor, ligand-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4964.11	37	chr9	134421677	.	C	T	4964.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.58;DP=1160;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.65;ReadPosRankSum=0.626;SOR=0.705	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1266	19	0	2	0
chr9	134690995	134690995	C	T	exonic	COL5A1	.	nonsynonymous SNV	COL5A1:NM_000093:exon2:c.C193T:p.R65W	Ehlers-Danlos syndrome, classic type, Autosomal dominant	.	1	1501	20	0	0	20	0.00661813	.	.	209971	Fibromuscular_dysplasia,_multifocal|Ehlers-Danlos_syndrome,_classic_type,_1|Connective_tissue_disorder|not_provided|Ehlers-Danlos_syndrome_type_7A|not_specified|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Ehlers-Danlos_syndrome	MONDO:MONDO:0859151,MedGen:C5543412,OMIM:619329|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:C3661900|MONDO:MONDO:0020521,MedGen:C3508773|MedGen:CN169374|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.993	D	0.000	U	0.633	N	2.91	M	0.7	T	-0.236	T	0.318	T	0.843	1.042	9.258	1.34	0.373	1.158	14.085	0.335	0.0764477722206	0.0013	0.000399361	0.0019	0	0.0017	0	0	0.0019	0.0033	0.0054	0.0018176	281	154602	rs139468527	0.0017	0.0017	0.0014	0.0019	0.0062	0.0016	0.0016	0.0058	0.0056	0.0001	0.0023	0.0083	0	3.774e-05	0.0057	0.0013	0.0021	0.0062	0.0014	0.0014	0.0013	0.0015	0.0054	0.0013	0.0012	0.0038	0.0032	9.616e-05	0	0.0025	0.0098	0	0	0.0034	0.0016	0.0019	0.0054	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.000003	0.62929	U	0.000000	0.632591	0.30685	N	3.29	0.90338	M	0.7	0.51474	T	-4.97	0.82063	D	0.881	0.87917	-0.2356	0.76740	T	0.318	0.68726	T	10	0.06795913	0.09544	T	0.076448	0.72534	D	0.335	0.65718	.	.	0.651798039095	0.64890	0.6690222893281671	0.66840	0.655015074409	0.58561	0.643406689167	0.59049	T	0.661259	0.89837	D	-0.127657	0.31876	T	0.0460492	0.73322	D	0.107522207775207	0.13165	T	0.987301	0.96411	D	0.43756995	0.63245	0.2501997	0.50605	0.46538565	0.65007	0.30246904	0.56277	-12.984	0.89298	D	.	.	0.646	0.70747	P	.;.	.;.	3.405647	0.47215	22.4	0.97865491911394409	0.36492	0.54068	0.29525	D	AEFDGBI	0.439432	0.49841	N	-0.111112687334822	0.36908	2.139853	-0.362000893962134	0.26141	1.441954	0.993369948445528	0.33186	0.719381	0.83141	0	0.563428	0.19063	0	0.709663	0.75317	0	0.733575	0.97253	0	.	.	4.68	1.34	0.21018	1.258000	0.32547	1.305000	0.25500	0.599000	0.40250	0.570000	0.27505	0.708000	0.26274	0.005000	0.06747	0.4606:0.5394:0.0:0.0	14.085	0.64477	940	0.13648	Laminin G domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	3310.98	34	chr9	134690995	.	C	T	3310.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.803;DP=1065;ExcessHet=0.0000;FS=1.791;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.65;ReadPosRankSum=-1.097e+00;SOR=0.796	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1366	20	0	1	0
chr9	134731520	134731520	G	A	exonic	COL5A1	.	nonsynonymous SNV	COL5A1:NM_000093:exon8:c.G1189A:p.A397T	Ehlers-Danlos syndrome, classic type, Autosomal dominant	.	0	1516	6	0	0	6	0.00197498	.	.	209999	Ehlers-Danlos_syndrome,_classic_type,_1|not_provided|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Ehlers-Danlos_syndrome	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000|MedGen:C3661900|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.59	T	0.0	B	0.0	B	0.001	U	1.000	N	0	N	-2.49	D	-0.620	T	0.412	T	0.052	0.523	6.835	1.39	-0.016	0.609	6.562	0.151	0.0771893346028	.	.	3.318e-05	0	0	0	0	6.042e-05	0	0	2.59e-05	4	154602	rs762108965	7.73e-05	7.73e-05	9.256e-05	6.188e-05	0.0003	6.532e-05	6.136e-05	8.036e-05	7.491e-05	0	0	0	0	0	0.0003	9.532e-05	8.279e-05	0	3.284e-05	3.283e-05	2.569e-05	4.033e-05	6.539e-05	1.261e-05	7.98e-06	4.88e-06	1.83e-06	2.412e-05	0	6.539e-05	0	0	0	0.0032	2.94e-05	0	0	0.604	0.05567	T	0.606	0.07791	T	0.0	0.02946	B	0.0	0.01387	B	0.000639	0.00658	U	5.069820	1	0.08975	N	0.345	0.11182	N	-2.49	0.89145	D	0.54	0.02764	N	0.151	0.17278	-0.6203	0.63976	T	0.412	0.76034	T	10	0.047104865	0.03985	T	0.077189	0.72712	D	0.151	0.39764	.	.	0.246926113748	0.24311	0.15244069689917342	0.15166	0.149736445379	0.16885	0.254793643951	0.04290	T	0.076875	0.35523	T	-0.248021	0.14343	T	-0.483983	0.24024	T	0.0261876286626785	0.01431	T	0.118888	0.00915	T	0.010926939	0.00011	0.033034746	0.02133	0.010926939	0.00011	0.033034746	0.02133	-3.659	0.18715	T	.	.	0.059	0.00979	B	.;.	.;.	0.231957	0.06131	2.577	0.78499395636870917	0.12327	0.00654	0.02841	N	AEFDGBI	0.024852	0.01606	N	-1.39048447718706	0.02726	0.120806	-1.37163142990805	0.03558	0.1661772	0.999657240060922	0.41424	0.706548	0.73137	0	0.547309	0.14657	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.8	1.39	0.21325	0.691000	0.25147	-0.365000	0.09647	-1.680000	0.00787	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.6727:0.0:0.3273:0.0	6.562	0.21689	886	0.28090	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	4763.98	35	chr9	134731520	.	G	A	4763.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.740e+00;DP=1126;ExcessHet=0.0000;FS=1.300;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.81;ReadPosRankSum=1.91;SOR=0.604	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1440	20	0	1	0
chr9	134817038	134817038	C	T	exonic	COL5A1	.	nonsynonymous SNV	COL5A1:NM_000093:exon53:c.C4135T:p.P1379S	Ehlers-Danlos syndrome, classic type, Autosomal dominant	.	0	1464	57	1	0	59	0.0197523	.	.	140593	not_specified|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Ehlers-Danlos_syndrome_type_7A|Ehlers-Danlos_syndrome,_classic_type,_1|Fibromuscular_dysplasia,_multifocal|Ehlers-Danlos_syndrome|not_provided	MedGen:CN169374|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0020521,MedGen:C3508773|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000|MONDO:MONDO:0859151,MedGen:C5543412,OMIM:619329|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.994	D	0.000	U	1.000	D	1.61	L	-5.05	D	0.942	D	0.939	D	0.216	3.701	18.80	4.97	2.304	5.945	16.795	0.658	.	0.0073	0.00399361	0.0074	0.0010	0.0054	0	0.0060	0.0098	0.0099	0.0077	0.0072379	1119	154602	rs61739195	0.0079	0.0079	0.0077	0.0080	0.0295	0.0077	0.0077	0.0259	0.0245	0.0013	0.0050	0.0245	2.519e-05	0.0062	0.0295	0.0080	0.0079	0.0075	0.0060	0.0060	0.0063	0.0058	0.0088	0.0057	0.0056	0.0082	0.0080	0.0011	0	0.0037	0.0219	0	0.0069	0.0238	0.0088	0.0147	0.0062	0.006	0.61437	D	0.012	0.64786	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	U	0.000000	1	0.81001	D	1.62	0.41497	L	-5.05	0.98611	D	-4.66	0.79482	D	0.577	0.61426	0.942	0.96269	D	0.939	0.97982	D	10	0.012166917	0.00262	T	.	.	.	0.658	0.87184	.	.	0.85845530583	0.85709	0.29242503868214725	0.29155	0.298742333184	0.32256	0.726237535477	0.70958	T	0.679392	0.90569	D	-0.207987	0.19665	T	-0.0598591	0.66342	T	0.0126543567457654	0.00212	T	0.892211	0.62852	D	0.37683263	0.59087	0.33475214	0.59297	0.38305777	0.59537	0.33015355	0.58887	-6.121	0.47281	T	0.6115994363276362	0.67924	0.556	0.67026	A	.;.	.;.	4.163591	0.62549	24.5	0.9968018547958577	0.79174	0.98929	0.88765	D	AEFBI	0.759279	0.69766	D	0.666279241900824	0.77424	6.672384	0.641604356597949	0.77986	6.786372	0.999999999999493	0.74766	0.706548	0.73137	0	0.659912	0.62753	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.97	4.97	0.65419	4.850000	0.62587	4.778000	0.44817	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:1.0:0.0:0.0	16.795	0.85462	827	0.39843	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1547.98	95	chr9	134817038	.	C	T	1547.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.310;DP=1555;ExcessHet=0.0000;FS=3.962;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.06;ReadPosRankSum=-4.910e-01;SOR=0.918	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,120,1800	20	0	1	0
chr9	134835104	134835104	C	T	exonic	COL5A1	.	nonsynonymous SNV	COL5A1:NM_000093:exon65:c.C5270T:p.T1757M	Ehlers-Danlos syndrome, classic type, Autosomal dominant	.	0	1494	28	0	0	28	0.00928382	.	.	140617	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Ehlers-Danlos_syndrome|Ehlers-Danlos_syndrome_type_7A|Ehlers-Danlos_syndrome,_classic_type|Ehlers-Danlos_syndrome,_classic_type,_1|Fibromuscular_dysplasia,_multifocal|not_provided|not_specified	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MONDO:MONDO:0020521,MedGen:C3508773|MONDO:MONDO:0007522,MedGen:C4225429,Orphanet:287|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000|MONDO:MONDO:0859151,MedGen:C5543412,OMIM:619329|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.995	D	0.778	P	0.007	U	0.882	N	2.89	M	-0.85	T	-0.679	T	0.058	T	0.309	2.964	15.88	5.03	2.340	1.954	18.364	0.451	.	0.0014	0.0269569	0.0121	0.0009	0.0116	0.0882	0.0005	0.0019	0.0103	0.0249	0.0112806	1744	154602	rs2229817	0.0049	0.0049	0.0044	0.0053	0.0795	0.0048	0.0047	0.0772	0.0762	0.0006	0.0086	0.0148	0.0795	0.0003	0.0040	0.0006	0.0097	0.0220	0.0050	0.0051	0.0044	0.0057	0.0917	0.0047	0.0046	0.0849	0.0822	0.0008	0	0.0026	0.0127	0.0917	0.0002	0	0.0009	0.0057	0.0211	0.008	0.58626	D	0.044	0.49942	D	0.995	0.67487	D	0.778	0.57212	P	0.007178	0.31557	U	0.261183	0.882265	0.28028	N	2.655	0.77738	M	-0.85	0.74371	T	-2.2	0.49519	N	0.185	0.31365	-0.6790	0.61419	T	0.058	0.24317	T	10	0.0027009249	0.00042	T	.	.	.	0.451	0.75143	.	.	.	.	0.4858146501938287	0.48501	0.306892659518	0.32992	0.561442613602	0.47472	T	0.572343	0.85861	D	-0.380576	0.03090	T	-0.243791	0.50428	T	0.012884577986513	0.00221	T	0.918208	0.70605	D	0.31913874	0.54567	0.35206926	0.60791	0.3935818	0.60285	0.28474456	0.54473	-8.279	0.62955	D	0.26940633294760913	0.36267	0.091	0.19357	B	.;.	.;.	4.405581	0.68111	25.2	0.99758358737992425	0.84851	0.84546	0.43629	D	AEFDGBI	0.236355	0.35881	N	0.637509601434317	0.75562	6.328087	0.588344727769782	0.74101	6.080413	0.999899576348115	0.45129	0.67177	0.52595	0	0.659464	0.62310	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.03	5.03	0.67015	2.331000	0.43552	3.899000	0.40339	0.599000	0.40250	0.994000	0.38300	0.999000	0.35428	0.965000	0.52897	0.0:1.0:0.0:0.0	18.364	0.90328	805	0.43675	Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.04762	4458.11	35	chr9	134835104	.	C	T	4458.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.04;DP=1089;ExcessHet=0.1072;FS=0.788;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=0.283;SOR=0.752	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1152	19	0	2	0
chr9	134909977	134909977	A	G	exonic	FCN1	.	nonsynonymous SNV	FCN1:NM_002003:exon9:c.T802C:p.S268P,	.	.	428	1071	21	2	0	25	0.0115367	.	.	389798	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.852	P	0.616	P	.	.	1.000	N	2.745	M	-1.09	T	-0.431	T	0.480	T	0.373	1.721	11.71	-1.82	-0.366	-0.892	7.167	0.630	0.32825584778	0.0018	0.000798722	0.0010	0.0004	8.637e-05	0	0.0002	0.0011	0	0.0025	0.0011125	172	154602	rs150625869	0.0019	0.0019	0.0019	0.0019	0.0050	0.0019	0.0018	0.0036	0.0031	0.0001	0.0003	0.0007	0	0	0.0050	0.0021	0.0020	0.0034	0.0010	0.0010	0.0010	0.0009	0.0021	0.0008	0.0008	0.0015	0.0014	0.0003	0	0.0002	0.0003	0	9.427e-05	0	0.0017	0.0009	0.0021	0.061	0.37118	T	0.092	0.39954	T	0.852	0.47012	P	0.616	0.51268	P	.	.	.	.	1	0.08975	N	2.04	0.55661	M	-1.09	0.77206	T	-2.65	0.56787	D	0.214	0.23884	-0.4313	0.71024	T	0.480	0.80109	T	9	0.020994157	0.00494	T	0.328256	0.91675	D	0.630	0.85769	.	.	0.870198666139	0.86894	0.6026988941556363	0.60200	0.293018793163	0.31727	0.30990922451	0.11894	T	0.132692	0.46292	T	-0.393379	0.02558	T	-0.337709	0.40605	T	0.05986447650217	0.07147	T	0.89971	0.64861	D	0.68773806	0.77389	0.4887536	0.70417	0.68773806	0.77390	0.4887536	0.70418	-9.568	0.71282	D	.	.	0.327	0.55032	B	.	.	-0.615847	0.01529	0.098	0.98608055811643902	0.43598	0.02596	0.07160	N	AEFDGBI	0.204139	0.33060	N	-0.485712715950183	0.22548	1.204767	-0.783951326075503	0.14888	0.7802778	0.999931327546478	0.46732	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.2	-1.82	0.07433	-1.106000	0.03430	-13.917000	0.00431	0.743000	0.86499	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.23:0.6251:0.0:0.1449	7.167	0.24870	726	0.54788	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1434.98	41	chr9	134909977	.	A	G	1434.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.390;DP=952;ExcessHet=0.0000;FS=0.619;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.83;ReadPosRankSum=0.584;SOR=0.604	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr9	135344084	135344084	C	T	exonic	C9orf62	.	nonsynonymous SNV	C9orf62:NM_173520:exon2:c.C136T:p.R46C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.931	P	0.069	B	.	.	1.000	N	.	.	.	.	-1.034	T	0.035	T	0.175	1.007	9.111	0.252	0.080	-1.944	5.190	0.055	0.000706183589423	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1225294145	1.74e-06	2.736e-06	1.706e-06	1.775e-06	2.175e-06	2.9e-07	1.1e-07	3.6e-07	1.4e-07	0	0	0	0	0	0	2.175e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	869.98	42	chr9	135344084	.	C	T	869.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.362;DP=889;ExcessHet=0.0000;FS=2.051;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=-2.600e-02;SOR=0.460	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	20	0	1	0
chr9	135484551	135484551	C	A	exonic	PPP1R26	.	nonsynonymous SNV	PPP1R26:NM_014811:exon4:c.C41A:p.S14Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.992	D	0.003	N	1.000	D	2.175	M	1.7	T	-0.826	T	0.174	T	0.713	4.654	25.6	5.44	2.555	7.147	18.259	0.377	0.0502899856482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.992	0.80445	D	0.002874	0.35804	N	0.240088	0.999878	0.50225	D	2.62	0.76659	M	1.7	0.26885	T	-4.77	0.83625	D	0.409	0.45992	-0.8259	0.53563	T	0.174	0.51674	T	10	0.3299058	0.50236	T	0.05029	0.64181	D	0.377	0.69527	0.321	0.30064	0.102598925029	0.09809	0.5015087269937312	0.50072	0.704328707761	0.61311	0.67654466629	0.63774	T	0.037059	0.24335	T	0.0807456	0.62127	D	-0.121791	0.61656	T	0.993035395924338	0.83685	D	0.731927	0.34732	T	0.66250914	0.76033	0.69857264	0.82245	0.66250914	0.76034	0.69857264	0.82246	-5.485	0.41728	T	.	.	0.399	0.59499	A	.;.;.;.;.	.;.;.;.;.	4.369740	0.67261	25.1	0.99493914103984449	0.67630	0.99553	0.97372	D	AEFGBI	0.789081	0.71837	D	0.78428010874916	0.85112	8.480197	0.746538326165197	0.85898	8.719922	0.999999999999995	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.44	5.44	0.79348	7.227000	0.77548	3.934000	0.40555	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.0:1.0:0.0:0.0	18.259	0.89968	516	0.74704	Protein phosphatase 1 regulatory subunit 26, N-terminal domain;Protein phosphatase 1 regulatory subunit 26, N-terminal domain;Protein phosphatase 1 regulatory subunit 26, N-terminal domain;Protein phosphatase 1 regulatory subunit 26, N-terminal domain;Protein phosphatase 1 regulatory subunit 26, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1557.06	46	chr9	135484551	.	C	A	1557.06	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.775;DP=1000;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0294;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.54;ReadPosRankSum=0.907;SOR=0.680	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,120,1800	20	0	1	0
chr9	135694417	135694417	G	T	exonic	SOHLH1	.	nonsynonymous SNV	SOHLH1:NM_001012415:exon7:c.C916A:p.L306M	.	.	418	1076	28	0	0	28	0.012844	.	.	700885	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.988	D	0.022	N	0.964	N	1.1	L	1.12	T	-1.019	T	0.115	T	0.385	3.377	17.39	3.17	1.069	0.843	8.015	0.205	.	0.0024	0.00439297	0.0040	0.0004	0.0018	0	0.0002	0.0033	0.0080	0.0142	0.0037968	587	154602	rs144035874	0.0040	0.0040	0.0036	0.0045	0.0143	0.0040	0.0039	0.0136	0.0133	0.0003	0.0025	0.0055	2.519e-05	0.0002	0.0078	0.0037	0.0043	0.0143	0.0028	0.0028	0.0027	0.0029	0.0133	0.0026	0.0025	0.0107	0.0097	0.0007	0	0.0026	0.0055	0.0002	9.416e-05	0.0034	0.0039	0.0033	0.0133	0.0	0.91255	D	0.02	0.59159	D	1.0	0.90584	D	0.974	0.77976	D	0.022308	0.26659	N	0.000000	0.963867	0.26006	N	1.905	0.50856	L	1.12	0.43672	T	-0.65	0.20791	N	0.299	0.45237	-1.0194	0.23910	T	0.115	0.40897	T	10	0.00800392	0.00182	T	.	.	.	0.205	0.49236	.	.	0.769224809604	0.76711	0.024377375038672506	0.02388	0.240467876749	0.26590	0.600934326649	0.53037	T	0.170494	0.51826	T	-0.439306	0.01305	T	-0.392132	0.34301	T	0.0480363027054846	0.05149	T	0.375462	0.10029	T	0.14672273	0.33574	0.12945314	0.31125	0.1755579	0.38421	0.12844017	0.30900	-6.666	0.51690	T	.	.	0.286	0.53293	B	.;.	.;.	1.888798	0.23993	16.23	0.99024227393760655	0.50655	0.24659	0.22462	N	AEFDBI	0.044883	0.07275	N	-0.149903679894684	0.35239	2.021542	-0.339853883871407	0.26825	1.484233	0.982373399511602	0.30390	0.446893	0.09132	0	0.563428	0.19063	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.08	3.17	0.35510	1.107000	0.30724	2.782000	0.34741	0.650000	0.52971	0.009000	0.18154	0.985000	0.30750	0.007000	0.07825	0.1145:0.0:0.8855:0.0	8.015	0.29539	673	0.60677	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1091.98	87	chr9	135694417	.	G	T	1091.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.069e+00;DP=2054;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.64;ReadPosRankSum=-6.810e-01;SOR=0.716	GT:AD:DP:GQ:PL	0/0:90,0:90:99:0,120,1800	20	0	1	0
chr9	135702317	135702317	G	C	exonic	KCNT1	.	nonsynonymous SNV	KCNT1:NM_001272003:exon1:c.G59C:p.G20A	Epilepsy, nocturnal frontal lobe, 5, Autosomal dominant;Epileptic encephalopathy, early infantile, 14, Autosomal dominant	.	9	1437	72	4	0	80	0.0270819	.	.	134812	Inborn_genetic_diseases|Developmental_and_epileptic_encephalopathy,_14|Autosomal_dominant_nocturnal_frontal_lobe_epilepsy_5|not_specified|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013989,MedGen:C3554195,OMIM:614959,Orphanet:293181|MONDO:MONDO:0014002,MedGen:C3554306,OMIM:615005,Orphanet:98784|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.95	T	0.0	B	0.0	B	.	.	0.998	N	0	N	2.04	T	-0.967	T	0.010	T	0.058	-0.083	3.593	0.96	0.344	0.218	6.007	0.048	.	0.0052	0.00479233	0.0066	0.0012	0.0029	0.0017	0.0003	0.0073	0.0085	0.0144	0.0056985	881	154602	rs146292575	0.0081	0.0081	0.0079	0.0084	0.0298	0.0080	0.0080	0.0261	0.0247	0.0017	0.0036	0.0155	0.0145	0.0003	0.0298	0.0079	0.0079	0.0147	0.0052	0.0052	0.0051	0.0053	0.0162	0.0049	0.0048	0.0133	0.0122	0.0012	0.0099	0.0046	0.0150	0.0037	0.0004	0.0340	0.0072	0.0052	0.0162	0.332	0.13045	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	2.04	0.21119	T	-0.95	0.25332	N	0.149	0.18103	-0.9665	0.37914	T	0.010	0.03627	T	9	0.0032934844	0.00057	T	.	.	.	0.048	0.13305	.	.	0.0297737177859	0.01360	0.08820121728783718	0.08753	0.681807175389	0.60070	0.618645429611	0.55538	T	.	.	.	-0.703364	0.00035	T	-0.770786	0.02742	T	0.00255485869689805	0.00027	T	0.507849	0.16117	T	.	.	.	.	.	.	.	.	-3.531	0.17756	T	.	.	0.077	0.10691	B	.;.;.	.;.;.	0.467947	0.08376	5.129	0.72169361813330213	0.09880	0.03696	0.08973	N	AEFDGBCI	0.030864	0.03186	N	-1.24565565112622	0.04357	0.1964937	-1.26783242703793	0.04872	0.2308777	0.999982603703969	0.51787	0.525926	0.21836	0	0.615948	0.52940	0	0.606814	0.37721	0	0.691587	0.68394	0	.	.	1.9	0.96	0.18753	-0.571000	0.05979	-0.124000	0.11690	0.671000	0.69459	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4195:0.5805:0.0	6.007	0.18781	671	0.60868	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.07143	6633.68	34	chr9	135702317	.	G	C	6633.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-8.320e-01;DP=1226;ExcessHet=0.3300;FS=1.104;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.01;ReadPosRankSum=0.420;SOR=0.624	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,120,1800	18	0	3	0
chr9	135786258	135786258	G	T	exonic	KCNT1	.	nonsynonymous SNV	KCNT1:NM_001272003:exon28:c.G3104T:p.G1035V	Epilepsy, nocturnal frontal lobe, 5, Autosomal dominant;Epileptic encephalopathy, early infantile, 14, Autosomal dominant	.	10	1509	3	0	0	3	0.000993049	.	.	370704	not_provided|not_specified|Developmental_and_epileptic_encephalopathy,_14|Autosomal_dominant_nocturnal_frontal_lobe_epilepsy_5|KCNT1-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013989,MedGen:C3554195,OMIM:614959,Orphanet:293181|MONDO:MONDO:0014002,MedGen:C3554306,OMIM:615005,Orphanet:98784|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.18	T	0.077	B	0.045	B	0.182	U	0.998	N	0.345	N	1.98	T	-1.019	T	0.023	T	0.193	-0.406	2.102	0.834	-0.117	1.884	1.633	0.045	0.206949269012	0.0016	0.000199681	0.0022	0.0005	0.0001	0	0.0002	0.0034	0.0015	0.0016	0.0017464	270	154602	rs200250181	0.0026	0.0026	0.0027	0.0025	0.0031	0.0025	0.0025	0.0030	0.0029	0.0004	0.0003	0.0033	0	0.0005	0.0012	0.0031	0.0019	0.0016	0.0015	0.0015	0.0018	0.0013	0.0025	0.0014	0.0013	0.0022	0.0021	0.0005	0	0.0007	0.0040	0	0.0008	0	0.0025	0.0009	0.0004	0.01	0.56456	D	0.327	0.21343	T	.	.	.	.	.	.	0.182232	0.17071	U	0.622383	0.999507	0.22137	N	1.245	0.31408	L	1.82	0.25018	T	-2.47	0.53898	N	0.199	0.35620	-1.0188	0.24106	T	0.023	0.09741	T	10	0.0059975684	0.00135	T	0.206949	0.87067	D	0.045	0.12272	.	.	0.345632371893	0.34166	0.4864247483336566	0.48562	0.111451014864	0.12582	0.438605725765	0.30387	T	0.058305	0.30805	T	-0.431135	0.01459	T	-0.394493	0.34026	T	0.0311117385439214	0.02164	T	0.906109	0.66926	D	0.11251886	0.26582	0.15248744	0.35874	0.21999258	0.44544	0.12053789	0.29088	-5.665	0.44092	T	0.10455608797968416	0.08193	0.081	0.15654	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.984852	0.25217	16.68	0.60217766006453999	0.06410	0.72078	0.35294	D	AEFDBHI	0.397806	0.47373	N	-0.923426679543321	0.10295	0.4913135	-0.885766601434569	0.12430	0.6393792	0.492484821845352	0.20875	0.001892	0.00033	3	0.547309	0.14657	0	0.505578	0.09266	0	0.562822	0.20929	0	.	.	4.85	0.834	0.18015	1.551000	0.35841	3.314000	0.37488	0.672000	0.70159	0.911000	0.31706	1.000000	0.68203	0.005000	0.06747	0.2422:0.1506:0.4665:0.1407	1.633	0.02571	536	0.73233	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.02381	881.98	46	chr9	135786258	.	G	T	881.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.730e-01;DP=814;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.36;ReadPosRankSum=-1.097e+00;SOR=0.763	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1458	20	0	1	0
chr9	135786345	135786345	G	A	exonic	KCNT1	.	nonsynonymous SNV	KCNT1:NM_001272003:exon28:c.G3191A:p.S1064N	Epilepsy, nocturnal frontal lobe, 5, Autosomal dominant;Epileptic encephalopathy, early infantile, 14, Autosomal dominant	.	10	1511	1	0	0	1	0.000330797	.	.	638028	Developmental_and_epileptic_encephalopathy,_14|Autosomal_dominant_nocturnal_frontal_lobe_epilepsy_5|KCNT1-related_disorder	MONDO:MONDO:0013989,MedGen:C3554195,OMIM:614959,Orphanet:293181|MONDO:MONDO:0014002,MedGen:C3554306,OMIM:615005,Orphanet:98784|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.954	P	0.694	P	0.000	U	1.000	D	2.42	M	1.25	T	-0.663	T	0.184	T	0.125	3.923	19.96	4.75	2.189	8.991	17.738	0.242	0.407244103784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	U	0.047110	0.999999	0.81001	D	2.34	0.67151	M	1.22	0.37052	T	-1.13	0.29114	N	0.714	0.72925	-0.6626	0.62161	T	0.184	0.53285	T	10	0.5922874	0.66448	D	0.407244	0.93523	D	0.242	0.54781	.	.	0.546607571196	0.54314	0.6712071603430122	0.67058	0.314388065914	0.33721	0.732887625694	0.71928	T	0.060435	0.31385	T	-0.132014	0.31171	T	-0.427406	0.30230	T	0.96179461479187	0.66183	D	0.985401	0.94968	D	0.46769384	0.65148	0.35119867	0.60718	0.46769384	0.65149	0.35119867	0.60717	-9.253	0.69972	D	0.5778356808349089	0.64474	0.635	0.71705	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.572477	0.72161	25.8	0.99463705762829868	0.65944	0.99580	0.97658	D	AEFDBHI	0.941123	0.94398	D	0.464808296424267	0.65049	4.773716	0.436872408708265	0.63878	4.630607	0.999999999987036	0.74766	0.648878	0.45929	0	0.547309	0.14657	0	0.596394	0.31383	0	0.562822	0.20929	0	.	.	4.75	4.75	0.59954	9.181000	0.94000	11.273000	0.91473	0.612000	0.49041	1.000000	0.71638	1.000000	0.68203	0.782000	0.36987	0.0:0.0:1.0:0.0	17.738	0.88307	536	0.73233	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	365.98	46	chr9	135786345	.	G	A	365.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.780e-01;DP=769;ExcessHet=0.0000;FS=6.106;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.04;ReadPosRankSum=0.491;SOR=1.447	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1458	20	0	1	0
chr9	135818443	135818443	G	A	exonic	CAMSAP1	.	nonsynonymous SNV	CAMSAP1:NM_015447:exon13:c.C4133T:p.S1378L,	.	.	429	1092	1	0	0	1	0.000457666	.	.	2466090	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.981	D	0.412	B	0.000	D	1.000	D	1.31	L	2.35	T	-1.130	T	0.044	T	0.148	2.791	15.29	4.55	1.298	6.281	14.186	0.088	0.018342401993	.	.	5.339e-05	0	0	0.0008	0	0	0	0	1.94e-05	3	154602	rs764373953	3.459e-06	4.788e-06	1.376e-06	5.565e-06	0.0001	1.01e-06	7.4e-07	3.472e-05	1.997e-05	0	0	0	0.0001	0	0	0	1.667e-05	0	2.627e-05	2.626e-05	1.284e-05	4.034e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0	0.669	0.04848	T	0.533	0.16522	T	0.082	0.59675	B	0.016	0.44859	B	0.000159	0.49130	D	0.184944	0.999336	0.52935	D	2.4	0.69460	M	2.35	0.16217	T	-1.13	0.29114	N	0.275	0.39254	-1.1299	0.01787	T	0.044	0.18906	T	10	0.0363667	0.01932	T	0.018342	0.40371	T	0.088	0.25558	0.273	0.22369	0.297458270211	0.29361	0.42860163435187854	0.42777	1.24102395754	0.81563	0.449537932873	0.31880	T	0.033007	0.22733	T	-0.441538	0.01267	T	-0.535756	0.18716	T	0.226663686266515	0.21791	T	0.969503	0.89155	D	0.06112475	0.12621	0.068027	0.14152	0.06112475	0.12621	0.068027	0.14152	-3.938	0.22873	T	.	.	0.091	0.13737	B	.;.;.	.;.;.	4.200644	0.63389	24.6	0.99584774969460743	0.73218	0.97946	0.78335	D	AEFDBI	0.681523	0.64485	D	0.139896179363168	0.48332	3.046971	0.208957130190346	0.50345	3.227434	0.999993750908642	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	4.55	0.55429	6.623000	0.74104	8.238000	0.76846	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0721:0.0:0.9279:0.0	14.186	0.65144	577	0.69927	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	807.98	34	chr9	135818443	.	G	A	807.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.230e-01;DP=777;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=0.458;SOR=0.584	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1057	20	0	1	0
chr9	135821534	135821534	G	C	exonic	CAMSAP1	.	nonsynonymous SNV	CAMSAP1:NM_015447:exon11:c.C3127G:p.Q1043E,	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.994	D	0.779	P	0.000	D	0.999	D	2.28	M	2.61	T	-1.015	T	0.086	T	0.557	-0.673	1.061	4.73	2.310	5.480	18.071	0.151	0.0138849898337	7.7e-05	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs373185407	2.737e-06	2.736e-06	4.084e-06	1.375e-06	3.598e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.018	0.63109	D	0.994	0.66517	D	0.779	0.57244	P	0.000030	0.55875	D	0.123645	0.987307	0.46766	D	2.43	0.70455	M	2.61	0.13095	T	-1.37	0.33998	N	0.425	0.50868	-1.0152	0.25272	T	0.086	0.33298	T	10	0.27536973	0.45094	T	0.013885	0.33612	T	0.151	0.39764	.	.	0.443461608722	0.43965	0.4516497327469113	0.45082	0.201043316276	0.22505	0.417221397161	0.27455	T	0.039143	0.25088	T	-0.0985244	0.36671	T	-0.3793	0.35804	T	0.359305202960968	0.27382	T	0.887511	0.61533	D	0.13587745	0.31520	0.18059091	0.40869	0.13587745	0.31520	0.18059091	0.40868	-7.907	0.60435	D	.	.	0.121	0.41202	B	.;.;.	.;.;.	3.770467	0.54150	23.5	0.22615166021164876	0.00918	0.98468	0.83094	D	AEFDGBI	0.659041	0.63010	D	0.456643581647493	0.64582	4.715893	0.412702796836043	0.62356	4.449575	0.999999999655318	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.73	4.73	0.59485	5.564000	0.67060	11.723000	0.94851	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.377000	0.26268	0.0:0.0:1.0:0.0	18.071	0.89334	621	0.65931	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2383.98	33	chr9	135821534	.	G	C	2383.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.22;DP=871;ExcessHet=0.0000;FS=9.966;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=-6.970e-01;SOR=0.825	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1143	20	0	1	0
chr9	135823013	135823013	C	T	exonic	CAMSAP1	.	nonsynonymous SNV	CAMSAP1:NM_015447:exon11:c.G1648A:p.V550M,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.993	D	0.646	P	0.863	N	1.000	N	1.39	L	2.48	T	-0.906	T	0.078	T	0.06	1.499	10.96	5.2	2.437	2.561	18.736	0.137	0.011044141294	7.7e-05	.	3.295e-05	0	8.639e-05	0	0	0	0	0.0002	2.59e-05	4	154602	rs139777188	2.326e-05	2.326e-05	1.089e-05	3.576e-05	0.0002	1.674e-05	1.477e-05	0.0002	0.0001	0.0001	6.708e-05	0	0	0	0	5.396e-06	0	0.0002	3.943e-05	3.94e-05	2.569e-05	5.381e-05	9.654e-05	1.715e-05	1.129e-05	3.25e-05	1.915e-05	9.654e-05	0	6.542e-05	0	0	0	0	1.47e-05	0	0	0.106	0.33923	T	0.105	0.38016	T	0.993	0.65571	D	0.443	0.52296	B	0.863039	0.07128	N	1.076350	1	0.08975	N	1.78	0.46185	L	2.48	0.14783	T	-0.24	0.10833	N	0.051	0.04072	-0.9058	0.47355	T	0.078	0.31042	T	10	0.095588624	0.17083	T	0.011044	0.28250	T	0.137	0.36984	.	.	0.319322697148	0.31537	0.20406041429936847	0.20323	0.385980496119	0.39890	0.382867991924	0.22663	T	0.023534	0.17949	T	-0.529999	0.00384	T	-0.706934	0.05455	T	0.0995941981673241	0.12313	T	0.656534	0.26618	T	0.03147061	0.02992	0.04101476	0.04567	0.03147061	0.02992	0.04101476	0.04566	-5.16	0.38533	T	.	.	0.084	0.21277	B	.;.;.	.;.;.	1.243200	0.16394	12.51	0.99479359190694405	0.66795	0.51264	0.28855	D	AEFDGBI	0.176320	0.30352	N	-0.0277529644123273	0.40601	2.413975	-0.145447746636119	0.33583	1.922597	0.999999849139589	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	1.323000	0.33307	-0.664000	0.07966	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.039000	0.14166	0.0:1.0:0.0:0.0	18.736	0.91718	637	0.64373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2964.98	33	chr9	135823013	.	C	T	2964.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.260e-01;DP=933;ExcessHet=0.0000;FS=4.526;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=0.460;SOR=0.990	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1143	20	0	1	0
chr9	136011887	136011887	T	C	exonic	NACC2	.	nonsynonymous SNV	NACC2:NM_144653:exon6:c.A1393G:p.M465V,	.	.	412	1071	39	0	0	39	0.0178817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.01	B	0.004	B	0.000	D	0.959	D	0.695	N	0.08	T	-1.046	T	0.080	T	0.139	2.061	12.85	4.09	0.835	3.407	10.044	0.058	.	0.0079	0.00858626	0.0168	0.0012	0.0127	0	0.0199	0.0166	0.0072	0.0266	0.0070762	1094	154602	rs61742050	0.0091	0.0090	0.0086	0.0096	0.0208	0.0090	0.0089	0.0199	0.0196	0.0007	0.0049	0.0204	0.0001	0.0039	0.0087	0.0089	0.0091	0.0208	0.0071	0.0071	0.0068	0.0076	0.0199	0.0068	0.0066	0.0167	0.0155	0.0013	0.0077	0.0049	0.0204	0.0002	0.0064	0.0102	0.0101	0.0109	0.0199	0.229	0.18371	T	1.0	0.01155	T	0.01	0.15535	B	0.004	0.10090	B	0.000000	0.84330	D	0.048243	0.958512	0.38079	D	0.895	0.22405	L	0.08	0.61559	T	0.27	0.04306	N	0.19	0.20793	-1.0459	0.15563	T	0.080	0.31824	T	10	0.0054822266	0.00121	T	.	.	.	0.058	0.16647	.	.	0.513503867364	0.50992	0.23018189085281895	0.22933	0.687941237011	0.60407	0.775818347931	0.78298	T	0.161096	0.50521	T	-0.491651	0.00636	T	-0.462743	0.26300	T	0.00460462130183993	0.00049	T	0.720928	0.33404	T	0.18694432	0.40126	0.20599216	0.44794	0.18694432	0.40125	0.20599216	0.44793	-1.213	0.01269	T	.	.	0.086	0.10449	B	.;.	.;.	1.990718	0.25293	16.71	0.95937216529691349	0.28233	0.89977	0.50804	D	AEFBHCI	0.204167	0.33063	N	-0.361306863027207	0.26859	1.46913	-0.176787345977006	0.32391	1.842405	0.99999991120564	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.26897	0.05253	2	0.591603	0.36755	0	.	.	5.23	4.09	0.47038	2.762000	0.47278	3.343000	0.37723	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0797:0.0:0.9203	10.044	0.41345	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	5713.11	36	chr9	136011887	.	T	C	5713.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.519;DP=1158;ExcessHet=0.1072;FS=2.888;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.40;ReadPosRankSum=1.01;SOR=0.550	GT:AD:DP:GQ:PL	0/1:84,110:194:99:3005,0,2116	19	0	2	0
chr9	136049674	136049674	T	C	exonic	NACC2	.	nonsynonymous SNV	NACC2:NM_144653:exon2:c.A848G:p.Y283C,	.	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.993	D	0.72	P	0.000	N	0.974	D	1.04	L	-0.77	T	-0.525	T	0.319	T	0.215	2.713	15.03	3.19	0.639	1.867	8.913	0.254	0.285552310052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.60337	D	0.993	0.65571	D	0.72	0.54860	P	0.000009	0.62929	N	0.067227	0.973611	0.39038	D	2.49	0.72568	M	-0.77	0.73523	T	-2.95	0.61580	D	0.313	0.35514	-0.5248	0.67737	T	0.319	0.68848	T	10	0.37526828	0.53783	T	0.285552	0.90383	D	0.254	0.56428	0.343	0.33626	0.775124561867	0.77305	0.6360748828091852	0.63541	0.861284270804	0.68974	0.753834009171	0.75013	T	0.370359	0.73491	T	-0.0325623	0.47045	T	-0.28455	0.46337	T	0.978369653224945	0.72290	D	0.864914	0.56300	D	0.51301	0.67855	0.4039079	0.64833	0.51301	0.67856	0.4039079	0.64833	-4.541	0.31421	T	.	.	0.165	0.47687	B	.;.	.;.	3.240516	0.44233	21.9	0.99606783354259776	0.74575	0.86584	0.45895	D	AEFGI	0.316209	0.42056	N	0.157169394521113	0.49153	3.118827	0.143521318205641	0.46800	2.920111	0.746145300890868	0.23288	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	4.33	3.19	0.35720	2.020000	0.40630	1.870000	0.29381	0.654000	0.53741	0.862000	0.30648	0.991000	0.31484	0.979000	0.57723	0.0:0.0904:0.0:0.9096	8.913	0.34725	923	0.18507	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	982.98	38	chr9	136049674	.	T	C	982.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.21;DP=783;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.28;ReadPosRankSum=-1.154e+00;SOR=0.745	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1042	20	0	1	0
chr9	136198718	136198718	C	T	exonic	LHX3	.	nonsynonymous SNV	LHX3:NM_001363746:exon5:c.G676A:p.G226S	Pituitary hormone deficiency, combined, 3, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.003	B	0.002	B	0.045	N	0.999	N	0.805	L	-2.35	D	-0.765	T	0.406	T	0.026	1.697	11.63	0.913	0.059	0.683	6.268	0.151	0.504349315574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-06	1.368e-06	0	2.755e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.12345	T	0.161	0.35082	T	0.003	0.11197	B	0.002	0.06944	B	0.044952	0.23586	N	0.449261	0.999361	0.21303	N	-0.44	0.02835	N	-2.51	0.89293	D	-1.64	0.39314	N	0.072	0.05799	-0.7653	0.57115	T	0.406	0.75550	T	10	0.13513145	0.25715	T	0.504349	0.95202	D	0.151	0.39764	0.212	0.13066	0.715887026869	0.71339	0.1481958030679276	0.14741	0.81697506507	0.66986	0.430781424046	0.29316	T	0.250895	0.62107	T	-0.192047	0.21958	T	-0.513638	0.20942	T	0.197467908263206	0.20276	T	0.828317	0.50357	T	0.07862805	0.17917	0.11174655	0.26957	0.07862805	0.17916	0.11174655	0.26956	-4.31	0.28316	T	.	.	0.057	0.01387	B	.;.;.	.;.;.	1.784164	0.22680	15.72	0.97625591758327934	0.34989	0.08266	0.14218	N	AEFDBHCI	0.051707	0.09160	N	-0.935175384088763	0.10028	0.4772835	-0.863525174751714	0.12962	0.6698364	0.999879051762385	0.44625	0.59774	0.34471	0	0.596491	0.49125	0	0.378051	0.06126	2	0.63947	0.58350	0	.	.	3.46	0.913	0.18482	0.563000	0.23250	0.181000	0.15632	-0.320000	0.05874	0.014000	0.18986	0.879000	0.27682	0.961000	0.51904	0.0:0.2567:0.0:0.7433	6.268	0.20150	735	0.53711	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1213.98	37	chr9	136198718	.	C	T	1213.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.960e-01;DP=970;ExcessHet=0.0000;FS=2.850;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.80;ReadPosRankSum=0.451;SOR=0.708	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,99,1485	20	0	1	0
chr9	136211364	136211364	A	T	exonic	QSOX2	.	nonsynonymous SNV	QSOX2:NM_181701:exon11:c.T1449A:p.F483L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.991	D	0.926	D	0.000	D	1.000	D	3.34	M	0.31	T	-0.108	T	0.456	T	0.799	3.411	17.52	-4.24	-1.070	1.009	11.137	0.440	0.311078465014	.	.	8.253e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs751996064	3.42e-06	3.42e-06	1.361e-06	5.5e-06	5.797e-05	1e-06	7.3e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	0	5.797e-05	6.565e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.03	0.45393	D	0.019	0.59159	D	0.991	0.64070	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	3.09	0.87444	M	0.31	0.58613	T	-5.95	0.89152	D	0.875	0.87265	-0.1079	0.79917	T	0.456	0.78790	T	10	0.90104103	0.89465	D	0.311078	0.91187	D	0.440	0.74377	0.696	0.83313	0.329020015101	0.32502	0.8580980141259416	0.85772	0.874967012048	0.69533	0.599041879177	0.52769	T	0.487439	0.81350	T	0.0705151	0.60913	D	-0.0396323	0.67725	D	0.995465755462646	0.87473	D	0.850115	0.53348	D	0.24504066	0.47458	0.2960284	0.55635	0.24504066	0.47458	0.2960284	0.55634	-10.639	0.77642	D	.	.	0.965	0.88693	P	.	.	3.199184	0.43497	21.7	0.98955877119296631	0.49227	0.88976	0.49173	D	AEFGBI	0.208218	0.33432	N	-0.498035129546692	0.22144	1.180405	-0.648503961218094	0.18254	0.9743562	0.999580714271205	0.40607	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.72	-4.24	0.03519	1.138000	0.31103	-0.425000	0.09259	-0.624000	0.04539	1.000000	0.71638	0.000000	0.08366	0.849000	0.40138	0.6124:0.0:0.3876:0.0	11.137	0.47602	709	0.56835	ERV/ALR sulfhydryl oxidase domain|ERV/ALR sulfhydryl oxidase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1961.98	34	chr9	136211364	.	A	T	1961.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.690e-01;DP=858;ExcessHet=0.0000;FS=0.587;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=-3.370e-01;SOR=0.747	GT:AD:DP:GQ:PL	0/1:79,79:158:99:1976,0,1997	20	0	1	0
chr9	136221864	136221864	T	G	exonic	QSOX2	.	nonsynonymous SNV	QSOX2:NM_181701:exon6:c.A753C:p.K251N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.969	D	0.621	P	0.002	N	0.993	N	2.815	M	-0.29	T	-0.347	T	0.294	T	0.076	0.449	6.440	-9.3	-3.840	-0.890	11.707	0.291	0.100908486897	.	.	4.135e-05	0	0.0004	0	0	0	0	0	3.23e-05	5	154602	rs769799230	1.027e-05	1.026e-05	1.09e-05	9.634e-06	0.0002	6.17e-06	4.89e-06	7.31e-05	5.179e-05	0	0.0002	0	0	0	0	7.197e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.016	0.60972	D	0.969	0.56768	D	0.621	0.51426	P	0.001742	0.38106	N	0.259094	0.992834	0.23817	N	3.15	0.88382	M	-0.29	0.67712	T	-3.65	0.69950	D	0.194	0.21319	-0.3474	0.73628	T	0.294	0.66564	T	10	0.27817625	0.45387	T	0.100908	0.77347	D	0.291	0.61040	0.471	0.54537	0.17948927462	0.17512	0.5972881170046579	0.59659	0.349805005506	0.36829	0.297544240952	0.10035	T	0.247198	0.61680	T	-0.370922	0.03547	T	-0.473021	0.25191	T	0.397390455007553	0.28844	T	0.612939	0.23352	T	0.032563213	0.03305	0.051430073	0.08275	0.032563213	0.03305	0.051430073	0.08274	-6.683	0.51682	T	.	.	0.131	0.28232	B	.	.	1.091581	0.14752	11.30	0.76920300089981553	0.11663	0.08170	0.14132	N	AEFGBI	0.082749	0.16758	N	-1.34385586591131	0.03189	0.1420368	-1.68497477122159	0.01205	0.05425879	0.999999999334324	0.74766	0.736574	0.97449	0	0.653731	0.59785	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.65	-9.3	0.00551	-0.415000	0.07170	-3.207000	0.02971	-0.710000	0.03952	0.537000	0.27244	0.000000	0.08366	0.015000	0.10482	0.0:0.486:0.1655:0.3486	11.707	0.50866	708	0.56926	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1549.98	33	chr9	136221864	.	T	G	1549.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=845;ExcessHet=0.0000;FS=3.853;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.13;ReadPosRankSum=1.22;SOR=0.868	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1075	20	0	1	0
chr9	136254760	136254760	G	T	exonic	CCDC187	.	nonsynonymous SNV	CCDC187:NM_001378188:exon26:c.C5068A:p.P1690T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12900689	0.24544	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426357	0.11459	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.20508	B	.	.	0.747834	0.11172	7.812	0.90267789298890422	0.19537	0.15443	0.18914	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999996737566119	0.74766	0.056701	0.00814	0	0.063554	0.01753	0	0.074216	0.02223	0	0.079188	0.02158	0	0.0938298	0.21136	1.76	1.76	0.23776	0.452000	0.21508	0.797000	0.21623	0.676000	0.76740	0.000000	0.06391	0.026000	0.21063	0.034000	0.13613	0.0:0.0:1.0:0.0	6.994	0.23951	778	0.48011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	35.75	114	chr9	136254760	.	G	T	35.75	.	AC=2;AF=0.083;AN=24;DP=114;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3931;MLEAC=2;MLEAF=0.083;MQ=60.00;QD=17.87;SOR=0.693	GT:AD:DP:GQ:PL	./.	11	1	0	9
chr9	136378199	136378199	C	T	exonic	SNAPC4	.	nonsynonymous SNV	SNAPC4:NM_003086:exon21:c.G3628A:p.G1210S,	.	.	408	1112	2	0	0	2	0.000898473	.	.	2761217	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.36	T	0.168	B	0.007	B	.	.	1.000	N	1.245	L	1.93	T	-1.004	T	0.032	T	0.045	0.538	6.914	-3.18	-0.438	0.042	1.179	0.037	0.00250019946327	.	0.000199681	8.097e-05	0	0	0.0009	0	1.832e-05	0	0	5.82e-05	9	154602	rs200938695	4.316e-05	4.378e-05	3.407e-05	5.233e-05	0.0003	3.447e-05	3.133e-05	0.0002	0.0002	2.988e-05	8.958e-05	0	0.0003	0	0	3.418e-05	6.631e-05	3.485e-05	6.566e-05	6.562e-05	2.57e-05	0.0001	0.0010	3.514e-05	2.615e-05	0.0004	0.0002	0	0	6.533e-05	0	0.0010	0	0	1.47e-05	0.0005	0.0004	0.348	0.12386	T	0.697	0.05786	T	0.168	0.28654	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	1.93	0.22881	T	-0.01	0.07155	N	0.05	0.02179	-1.0037	0.28844	T	0.032	0.13898	T	9	0.014363289	0.00302	T	0.003	0.04980	T	0.037	0.09474	.	.	0.195762928549	0.19159	0.1532630617642188	0.15248	.	.	0.461072206497	0.33458	T	0.002706	0.02096	T	-0.623469	0.00105	T	-0.763433	0.02990	T	0.0108015490772629	0.00153	T	0.475652	0.14239	T	0.045414027	0.07428	0.03845591	0.03719	0.045414027	0.07428	0.03845591	0.03719	-2.61	0.06580	T	.	.	0.104	0.19032	B	.	.	-0.048165	0.03961	0.889	0.4170225288021186	0.03026	0.05807	0.11744	N	AEFDBHCI	0.045091	0.07334	N	-1.08920900110559	0.06841	0.3160766	-1.21524405668427	0.05664	0.2705282	0.989654412193588	0.31894	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	3.43	-3.18	0.04867	-0.067000	0.11538	-3.361000	0.02846	-0.178000	0.10482	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1691:0.2215:0.1479:0.4616	1.179	0.01729	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1448.98	42	chr9	136378199	.	C	T	1448.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.832;DP=924;ExcessHet=0.0000;FS=1.474;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=-7.900e-02;SOR=0.870	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,116,1588	20	0	1	0
chr9	136379006	136379006	G	A	exonic	SNAPC4	.	nonsynonymous SNV	SNAPC4:NM_003086:exon21:c.C2821T:p.P941S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.096	B	0.043	B	0.069	N	1.000	N	0.895	L	1.85	T	-1.026	T	0.013	T	0.039	0.161	4.867	-0.597	-0.041	-1.299	7.213	0.004	.	0.0108	0.0123802	0.0039	0.0419	0.0029	0	0	2.143e-05	0	8.568e-05	0.0028331	438	154602	rs74925570	0.0009	0.0009	0.0010	0.0008	0.0322	0.0009	0.0009	0.0306	0.0300	0.0322	0.0020	0	0	0	0.0010	1.352e-05	0.0022	2.355e-05	0.0098	0.0098	0.0099	0.0097	0.0334	0.0094	0.0092	0.0319	0.0313	0.0334	0	0.0057	0	0	0	0	5.881e-05	0.0076	0	0.187	0.21385	T	0.648	0.06788	T	0.096	0.25489	B	0.043	0.24256	B	0.068764	0.21650	N	0.473630	1	0.08975	N	0.665	0.16292	N	1.85	0.24472	T	-0.67	0.19297	N	0.038	0.01203	-1.0264	0.21625	T	0.013	0.04890	T	10	0.002833724	0.00045	T	.	.	.	0.004	0.00165	.	.	0.112648838833	0.10856	0.1674425175676398	0.16664	.	.	0.362099856138	0.19692	T	0.001988	0.01394	T	-0.721127	0.00027	T	-0.784251	0.02328	T	0.00385230509398588	0.00041	T	0.442656	0.12286	T	0.027981095	0.02068	0.029144017	0.01220	0.027981095	0.02068	0.029144017	0.01220	-5.042	0.37293	T	.	.	0.076	0.06069	B	.	.	-0.472954	0.01955	0.168	0.55627117560187656	0.05382	0.06062	0.12033	N	AEFBI	0.036863	0.04979	N	-1.23833161705342	0.04455	0.2011236	-1.30743853624386	0.04333	0.2041675	0.988780333656568	0.31627	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.58	-0.597	0.11069	-1.431000	0.02538	-1.183000	0.06091	-0.633000	0.04490	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4263:0.0:0.5737:0.0	7.213	0.25119	911	0.21964	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	876.98	43	chr9	136379006	.	G	A	876.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.25;DP=876;ExcessHet=0.0000;FS=2.264;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.39;ReadPosRankSum=0.592;SOR=1.035	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr9	136383314	136383314	C	T	exonic	SNAPC4	.	nonsynonymous SNV	SNAPC4:NM_003086:exon15:c.G1855A:p.A619T,	.	.	403	1115	4	0	0	4	0.00179051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.0	B	0.0	B	0.112	N	1.000	N	-0.69	N	1.86	T	-1.026	T	0.017	T	0.046	0.421	6.285	-6.84	-0.816	-1.546	1.908	0.002	0.0128856888658	.	0.000599042	0.0006	0.0003	0	0.0077	0	0	0	6.725e-05	0.0004851	75	154602	rs199943004	0.0002	0.0002	0.0002	0.0002	0.0043	0.0002	0.0002	0.0037	0.0035	0.0001	4.481e-05	0	0.0043	0	0	1.439e-05	0.0016	0.0002	0.0003	0.0003	0.0004	0.0002	0.0052	0.0002	0.0002	0.0037	0.0032	0.0001	0	0.0008	0	0.0052	0	0	0	0.0009	0	0.288	0.15098	T	0.735	0.05072	T	0.0	0.02946	B	0.0	0.01387	B	0.111842	0.02647	N	2.786960	1	0.08975	N	-0.69	0.01958	N	1.86	0.24285	T	-0.29	0.11728	N	0.055	0.02658	-1.0261	0.21723	T	0.017	0.07187	T	10	0.0041803718	0.00083	T	0.012886	0.31852	T	0.002	0.00045	.	.	0.0611884634855	0.05136	0.14036940744863685	0.13959	.	.	0.287539541721	0.08565	T	0.002336	0.01729	T	-0.714488	0.00030	T	-0.795643	0.02014	T	0.00322637601250734	0.00034	T	0.265873	0.04359	T	0.03368395	0.03636	0.0393055	0.03994	0.03368395	0.03635	0.0393055	0.03994	-4.455	0.30296	T	.	.	0.075	0.05491	B	.	.	-0.511313	0.01831	0.145	0.72699309760244069	0.10064	0.03684	0.08955	N	AEFGBCI	0.024420	0.01510	N	-1.94202497761331	0.00281	0.01204706	-1.96334582358417	0.00365	0.01612821	0.986425288240283	0.31061	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.29	-6.84	0.01527	-2.092000	0.01442	-0.830000	0.07259	-1.199000	0.01364	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2275:0.3476:0.296:0.1289	1.908	0.03081	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1044.98	36	chr9	136383314	.	C	T	1044.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.740e-01;DP=791;ExcessHet=0.0000;FS=1.018;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.83;ReadPosRankSum=1.28;SOR=0.475	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1155	20	0	1	0
chr9	136383545	136383545	-	GCTGCT	exonic	SNAPC4	.	nonframeshift insertion	SNAPC4:NM_003086:exon15:c.1623_1624insAGCAGC:p.S542_E543insSS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	6548.32	36	chr9	136383542	.	CGCT	C,CGCTGCTGCT	6548.32	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-3.600e-02;DP=974;ExcessHet=0.9430;FS=6.521;InbreedingCoeff=0.0101;MLEAC=8,1;MLEAF=0.190,0.024;MQ=59.99;MQRankSum=0.00;QD=16.66;ReadPosRankSum=-6.600e-02;SOR=0.992	GT:AD:DP:GQ:PL	0/0:36,0,0:36:99:0,102,1155,102,1155,1155	13	1	6	0
chr9	136388503	136388503	C	T	exonic	SNAPC4	.	nonsynonymous SNV	SNAPC4:NM_003086:exon10:c.G1064A:p.R355H,	.	.	419	1099	4	0	0	4	0.00181653	.	.	3326140	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.39	T	0.56	P	0.054	B	0.305	N	0.989	N	1.095	L	1.53	T	-1.049	T	0.039	T	0.159	1.840	12.11	1.2	0.356	1.366	6.492	0.037	0.00908251394133	7.7e-05	.	0.0002	0	0	0	0.0005	0.0002	0	0.0008	0.0001876	29	154602	rs367652103	0.0002	0.0002	0.0001	0.0002	0.0007	0.0001	0.0001	0.0005	0.0005	2.992e-05	0	0	0	0.0002	0.0002	0.0001	0.0001	0.0007	0.0001	0.0001	8.991e-05	0.0002	0.0002	8.159e-05	6.717e-05	0.0001	8.876e-05	7.212e-05	0	0	0	0	0.0002	0	0.0002	0	0.0002	0.52	0.07259	T	0.488	0.11621	T	0.56	0.38344	P	0.054	0.25828	B	0.305144	0.14529	N	0.698003	0.98853	0.24399	N	1.635	0.41844	L	1.53	0.30401	T	-1.37	0.33998	N	0.298	0.33687	-1.0489	0.14705	T	0.039	0.16806	T	10	0.037701428	0.02140	T	0.009083	0.23893	T	0.037	0.09474	.	.	0.279776271856	0.27574	0.12425704924794591	0.12351	.	.	0.194771260023	0.00321	T	0.00553	0.14390	T	-0.47115	0.00836	T	-0.557066	0.16653	T	0.0830501907560315	0.10373	T	0.770723	0.40088	T	0.017756497	0.00300	0.028902236	0.01172	0.017756497	0.00300	0.028902236	0.01172	-6.529	0.50510	T	.	.	0.070	0.03552	B	.;.	.;.	2.545077	0.32927	19.19	0.9516853292169033	0.26322	0.45422	0.27535	N	AEFDBCI	0.072467	0.14463	N	-0.234951516120711	0.31708	1.780694	-0.151264189810039	0.33359	1.907443	0.09639450867093	0.16251	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.21	1.2	0.20181	1.392000	0.34095	-0.274000	0.10324	-0.176000	0.10722	1.000000	0.71638	0.000000	0.08366	0.976000	0.56436	0.0:0.3294:0.0:0.6706	6.492	0.21317	912	0.21483	Myb-like domain|SANT/Myb domain;Myb-like domain|SANT/Myb domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2561.98	37	chr9	136388503	.	C	T	2561.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.164;DP=973;ExcessHet=0.0000;FS=8.377;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=0.764;SOR=0.953	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr9	136404173	136404173	G	A	exonic	ENTR1	.	stopgain	ENTR1:NM_001039708:exon7:c.C871T:p.R291X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.238	N	1.000	A	.	.	.	.	.	.	.	.	.	1.897	12.30	3.62	2.281	0.935	8.727	.	.	8.1e-05	.	1.7e-05	0	0	0	0	1.537e-05	0	6.433e-05	1.29e-05	2	154602	rs201271878	1.646e-05	1.847e-05	1.774e-05	1.518e-05	2.994e-05	1.114e-05	9.36e-06	1.177e-05	9.56e-06	2.994e-05	0	0	0	1.903e-05	0	1.802e-05	0	2.323e-05	1.971e-05	1.97e-05	3.853e-05	0	7.236e-05	5.24e-06	2.45e-06	1.919e-05	1.032e-05	7.236e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.237811	0.15778	N	0.601453	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.198	0.21839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239526	0.77617	D	0.288433	0.87572	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	9.170126	0.98563	40	0.9957366284861906	0.72561	0.16749	0.19531	N	AEFDGBCI	0.163369	0.28965	N	0.31230034290576	0.56779	3.84327	0.0405436072701947	0.41617	2.503	0.999999948163861	0.74766	0.67177	0.52595	0	0.601644	0.50151	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.66	3.62	0.40616	0.418000	0.20950	4.531000	0.43726	0.676000	0.76740	0.000000	0.06391	1.000000	0.68203	0.405000	0.26894	0.0:0.1245:0.6446:0.2309	8.727	0.33635	912	0.21483	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1711.98	37	chr9	136404173	.	G	A	1711.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.440;DP=904;ExcessHet=0.0000;FS=0.613;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=-6.510e-01;SOR=0.638	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr9	136466267	136466267	G	T	exonic	SEC16A	.	nonsynonymous SNV	SEC16A:NM_001276418:exon6:c.C4125A:p.H1375Q	.	.	427	1091	3	1	0	5	0.00228624	.	.	700894	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.054	B	0.047	B	0.010	N	1.000	D	0.585	N	2.16	T	-1.029	T	0.041	T	0.23	-1.486	0.018	-6.73	-1.156	-1.702	5.290	0.035	.	0.0047	0.00519169	0.0041	0.0159	0.0108	0.0008	0	0.0039	0.0083	0.0002	0.0026778	414	154602	rs116048441	0.0023	0.0023	0.0024	0.0022	0.0187	0.0022	0.0022	0.0158	0.0148	0.0108	0.0072	0.0015	2.626e-05	3.992e-05	0.0187	0.0019	0.0059	0.0001	0.0054	0.0054	0.0054	0.0054	0.0113	0.0051	0.0049	0.0099	0.0094	0.0101	0	0.0113	0.0020	0	0	0.0408	0.0026	0.0156	0	0.608	0.05501	T	1.0	0.06621	T	0.0	0.02946	B	0.001	0.04355	B	0.009909	0.30147	N	0.406569	0.999959	0.19072	N	.	.	.	2.16	0.26301	T	-0.32	0.13611	N	0.109	0.14905	-1.0291	0.20746	T	0.041	0.17742	T	10	0.0039989054	0.00077	T	.	.	.	0.035	0.08770	0.137	0.04097	0.31316556289	0.30919	0.26355508398637184	0.26268	0.0721005396549	0.08083	0.255093038082	0.04324	T	0.005021	0.04451	T	-0.609521	0.00128	T	-0.637923	0.09821	T	0.000112901098238404	0.00001	T	0.738626	0.37241	T	0.022645678	0.00943	0.030883446	0.01601	0.022645678	0.00943	0.030883446	0.01601	-2.775	0.07955	T	.	.	0.107	0.19998	B	.;.;.;.;.	.;.;.;.;.	-1.471208	0.00313	0.005	0.31869288946564767	0.01818	0.05875	0.11823	N	AEFDGBI	0.036968	0.05009	N	-1.1057342698732	0.06540	0.3013556	-1.27390133933766	0.04786	0.226603	0.994154081489646	0.33512	0.706548	0.73137	0	0.702456	0.74545	0	0.679469	0.61720	0	0.714379	0.83352	0	.	.	5.69	-6.73	0.01586	-1.663000	0.02070	-1.283000	0.05821	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.034000	0.13613	0.2644:0.4873:0.0978:0.1505	5.290	0.15030	952	0.10565	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	940.98	34	chr9	136466267	.	G	T	940.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.250e-01;DP=812;ExcessHet=0.0000;FS=1.715;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.34;ReadPosRankSum=2.13;SOR=0.954	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1247	20	0	1	0
chr9	136496759	136496759	C	T	exonic	NOTCH1	.	nonsynonymous SNV	NOTCH1:NM_017617:exon34:c.G6980A:p.R2327Q,	Adams-Oliver syndrome 5, Autosomal dominant;Aortic valve disease 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	138695	NOTCH1-related_disorder|Adams-Oliver_syndrome_5|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|not_provided	.|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028,Orphanet:974|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.31	T	0.963	D	0.439	B	0.000	D	1.000	D	0.55	N	-1.47	T	-0.548	T	0.311	T	0.398	2.740	15.12	4.54	1.432	5.888	13.209	0.339	0.0576501905196	0.0005	0.000599042	0.0002	0.0017	0.0003	0.0001	0	4.669e-05	0.0023	6.062e-05	0.0002329	36	154602	rs202065858	0.0002	0.0002	0.0001	0.0002	0.0029	0.0001	0.0001	0.0024	0.0023	0.0029	0.0003	0	5.038e-05	0	0.0019	6.745e-05	0.0004	1.159e-05	0.0008	0.0008	0.0008	0.0008	0.0025	0.0007	0.0006	0.0022	0.0020	0.0025	0	0.0003	0	0	0	0.0034	0.0001	0	0.0002	0.318	0.13654	T	0.34	0.18018	T	0.963	0.55692	D	0.439	0.45685	B	0.000006	0.62929	D	0.060874	0.999988	0.54805	D	1.04	0.26193	L	-1.47	0.81067	T	-1.11	0.28703	N	0.361	0.40264	-0.5482	0.66855	T	0.311	0.68094	T	10	0.02677077	0.00837	T	0.05765	0.67042	D	0.339	0.66106	.	.	0.702961445353	0.70038	.	.	0.941455926589	0.72221	0.515547037125	0.41000	T	0.325783	0.69647	T	-0.282572	0.10397	T	-0.191902	0.55411	T	0.0255703363200267	0.01348	T	0.891911	0.62748	D	0.12822743	0.29983	0.07509042	0.16496	0.12822743	0.29983	0.07509042	0.16495	-1.835	0.02616	T	.	.	.	.	.	.	.	2.676912	0.34910	19.76	0.99864282011705741	0.94276	0.98793	0.86927	D	AEFGBI	0.694016	0.65316	D	0.0731968881008788	0.45214	2.781809	0.0889410257084881	0.43991	2.689565	0.999998773954923	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.44	4.54	0.55220	4.868000	0.62716	3.878000	0.40224	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.040000	0.14268	0.0:0.9234:0.0:0.0766	13.209	0.59240	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	1495.98	102	chr9	136496759	.	C	T	1495.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.802;DP=853;ExcessHet=0.0000;FS=0.738;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.67;ReadPosRankSum=-7.450e-01;SOR=0.604	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1080	20	0	1	0
chr9	136506947	136506947	C	A	exonic	NOTCH1	.	nonsynonymous SNV	NOTCH1:NM_017617:exon23:c.G3670T:p.D1224Y,	Adams-Oliver syndrome 5, Autosomal dominant;Aortic valve disease 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	1.0	D	0.000	D	1.000	D	1.915	M	-3.77	D	1.022	D	0.909	D	0.832	3.761	19.10	5.23	2.439	7.715	17.788	0.777	0.334878674417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	-3.77	0.95595	D	-7.98	0.96395	D	0.937	0.94314	1.022	0.97565	D	0.909	0.96976	D	10	0.9578195	0.95159	D	0.334879	0.91854	D	0.777	0.92542	0.489	0.57415	0.956377911577	0.95591	.	.	1.3271011008	0.83577	0.573227643967	0.49133	T	0.831514	0.95982	D	0.420475	0.91046	D	0.366207	0.90934	D	0.99607652425766	0.88617	D	0.942906	0.78488	D	0.90211755	0.91573	0.69513464	0.82051	0.90211755	0.91574	0.69513464	0.82052	-12.474	0.87083	D	.	.	.	.	.	.	.	4.273899	0.65055	24.8	0.9886121318070048	0.47476	0.99335	0.94660	D	AEFGBI	0.870718	0.79180	D	0.660951889362184	0.77078	6.606194	0.596436596814421	0.74683	6.179054	0.999999999999527	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.23	5.23	0.72570	7.802000	0.84533	5.911000	0.51023	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.116000	0.19000	0.0:1.0:0.0:0.0	17.788	0.88454	934	0.15400	EGF-like calcium-binding, conserved site|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	973.98	34	chr9	136506947	.	C	A	973.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.75;DP=757;ExcessHet=0.0000;FS=1.909;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.73;ReadPosRankSum=0.111;SOR=1.426	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1103	20	0	1	0
chr9	136669935	136669935	G	A	exonic	EGFL7	.	nonsynonymous SNV	EGFL7:NM_201446:exon5:c.G335A:p.R112Q	.	.	420	1098	4	0	0	4	0.00181818	.	.	700899	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.64	T	0.006	B	0.002	B	0.336	N	0.992	N	-0.805	N	0.67	T	-1.015	T	0.030	T	0.089	0.646	7.466	1.05	-0.062	0.559	9.997	0.023	.	0.0058	0.00239617	0.0072	0.0025	0.0036	0	0.0043	0.0110	0.0090	0.0027	0.003978	615	154602	rs146989870	0.0061	0.0060	0.0061	0.0060	0.0073	0.0060	0.0059	0.0072	0.0071	0.0013	0.0024	0.0003	0	0.0012	0.0015	0.0073	0.0053	0.0020	0.0042	0.0042	0.0044	0.0039	0.0070	0.0039	0.0038	0.0065	0.0063	0.0013	0	0.0052	0	0	0.0005	0	0.0070	0.0038	0.0023	0.417	0.09927	T	1.0	0.01155	T	0.006	0.13644	B	0.002	0.06944	B	0.335909	0.14039	N	0.715267	0.991835	0.23976	N	-0.94	0.01278	N	0.67	0.52187	T	1.51	0.00728	N	0.101	0.08506	-1.0152	0.25272	T	0.030	0.13111	T	10	0.009594649	0.00216	T	.	.	.	0.023	0.04649	.	.	0.509346181843	0.50574	0.1579198059231588	0.15712	0.124499071899	0.14020	0.261715054512	0.05096	T	0.030846	0.21766	T	-0.59356	0.00159	T	-0.617422	0.11388	T	0.00253565561103508	0.00026	T	0.835117	0.50455	T	0.013258108	0.00054	0.024181234	0.00434	0.013258108	0.00054	0.024181234	0.00434	-3.233	0.12888	T	.	.	0.061	0.01161	B	.;.;.;.	.;.;.;.	1.970184	0.25030	16.61	0.91260391940968555	0.20519	0.69706	0.34294	D	AEFDGBHCI	0.082442	0.16692	N	-1.16281683682833	0.05572	0.2543673	-1.0321322912953	0.09083	0.4499482	0.999999744029333	0.74766	0.730579	0.87903	0	0.588066	0.40923	0	0.723109	0.80598	0	0.648885	0.59868	0	.	.	4.77	1.05	0.19280	0.881000	0.27811	3.205000	0.36771	-0.244000	0.07312	0.901000	0.31451	1.000000	0.68203	0.087000	0.17632	0.4257:0.0:0.5743:0.0	9.997	0.41079	952	0.10565	EGF-like domain, extracellular|EGF-like domain|EGF-like domain;EGF-like domain, extracellular|EGF-like domain|EGF-like domain;EGF-like domain, extracellular|EGF-like domain|EGF-like domain;EGF-like domain, extracellular|EGF-like domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	216.98	35	chr9	136669935	.	G	A	216.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.505;DP=706;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.68;ReadPosRankSum=-2.097e+00;SOR=0.807	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	20	0	1	0
chr9	136676978	136676978	G	A	exonic	AGPAT2	.	nonsynonymous SNV	AGPAT2:NM_001012727:exon3:c.C475T:p.R159C	Lipodystrophy, congenital generalized, type 1, Autosomal recessive	.	0	1476	45	1	0	47	0.0156719	.	.	207659	Monogenic_diabetes|not_specified|not_provided|AGPAT2-related_disorder|Congenital_generalized_lipodystrophy_type_1	MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:CN169374|MedGen:C3661900|.|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594,Orphanet:528	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	0.995	D	0.86	P	0.293	N	0.982	D	2.655	M	-3.25	D	0.563	D	0.794	D	0.298	2.921	15.73	2.66	0.978	2.180	6.900	0.583	0.376081266076	0.0042	0.00299521	0.0055	0.0006	0.0045	0	0.0023	0.0069	0.0090	0.0079	0.0052522	812	154602	rs142993240	0.0052	0.0051	0.0051	0.0054	0.0200	0.0051	0.0051	0.0170	0.0158	0.0009	0.0053	0.0113	0	0.0021	0.0200	0.0052	0.0062	0.0075	0.0045	0.0045	0.0045	0.0045	0.0081	0.0042	0.0041	0.0061	0.0055	0.0014	0	0.0057	0.0102	0	0.0014	0.0274	0.0062	0.0081	0.0081	0.04	0.42199	D	0.133	0.34359	T	0.994	0.67487	D	0.827	0.61233	P	0.293250	0.14730	N	0.654070	0.98209	0.39852	D	1.885	0.50048	L	-3.25	0.93532	D	-1.31	0.39119	N	0.334	0.42345	0.563	0.91414	D	0.794	0.93025	D	10	0.013234198	0.00281	T	0.376081	0.92861	D	0.583	0.83249	.	.	0.98728440208	0.98714	0.550509138554867	0.54976	0.675783368987	0.59728	0.304822176695	0.11124	T	0.634862	0.88730	D	-0.242284	0.15060	T	-0.116936	0.62053	T	0.0146335427042857	0.00302	T	0.835916	0.50694	T	0.27577108	0.50640	0.1912488	0.42572	0.36025938	0.57856	0.18649092	0.41824	-4.821	0.75123	T	.	.	0.199	0.45653	B	.;.;.	.;.;.	4.247194	0.64440	24.7	0.99853759363083971	0.93279	0.84552	0.43635	D	AEFDGBHCI	0.891524	0.82756	D	0.394959614047973	0.61147	4.312139	0.283211928081487	0.54560	3.62051	0.999983192290523	0.51787	0.706298	0.61202	0	0.709663	0.81188	0	0.570548	0.19454	0	0.741806	0.99463	0	.	.	4.75	2.66	0.30672	2.855000	0.48032	2.028000	0.30240	0.676000	0.76740	1.000000	0.71638	0.638000	0.25900	0.318000	0.24924	0.0:0.1308:0.3813:0.488	6.900	0.23456	952	0.10565	Phospholipid/glycerol acyltransferase|Phospholipid/glycerol acyltransferase;Phospholipid/glycerol acyltransferase|Phospholipid/glycerol acyltransferase|1-acyl-sn-glycerol-3-phosphate acyltransferase;Phospholipid/glycerol acyltransferase|Phospholipid/glycerol acyltransferase|1-acyl-sn-glycerol-3-phosphate acyltransferase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1170.98	42	chr9	136676978	.	G	A	1170.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.590e-01;DP=797;ExcessHet=0.0000;FS=1.919;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.28;ReadPosRankSum=0.698;SOR=0.442	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1117	20	0	1	0
chr9	136799725	136799725	A	T	exonic	CCDC183	.	nonsynonymous SNV	CCDC183:NM_001039374:exon3:c.A205T:p.T69S,	.	.	426	1076	19	1	0	21	0.00966406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.047	B	0.022	B	0.939	U	0.879	N	1.7	L	2.72	T	-0.934	T	0.024	T	0.063	2.577	14.58	-4.68	-0.785	-0.152	4.424	0.038	0.00765807881367	0.0022	0.000399361	0.0025	0.0005	0.0020	0	0.0007	0.0033	0.0089	0.0027	0.0022833	353	154602	rs199913585	0.0023	0.0023	0.0022	0.0024	0.0305	0.0022	0.0022	0.0268	0.0254	0.0008	0.0020	0.0178	0	0.0003	0.0305	0.0019	0.0038	0.0031	0.0017	0.0017	0.0019	0.0015	0.0031	0.0016	0.0015	0.0019	0.0015	0.0004	0	0.0019	0.0202	0	0.0004	0.0306	0.0017	0.0038	0.0031	0.373	0.11442	T	0.039	0.51112	D	0.047	0.21998	B	0.022	0.19653	B	0.938737	0.07581	U	1.047410	0.999996	0.08975	N	1.935	0.51832	L	2.72	0.11947	T	-0.84	0.22944	N	0.202	0.22357	-0.9336	0.43605	T	0.024	0.10013	T	10	0.0049142838	0.00105	T	0.007658	0.20325	T	0.038	0.09825	0.191	0.10171	0.104622674875	0.10061	0.10181276940102582	0.10112	0.207345201098	0.23191	0.343333005905	0.16936	T	0.008954	0.08187	T	-0.642098	0.00081	T	-0.700032	0.05824	T	0.01447804924367	0.00294	T	0.534647	0.17878	T	0.11584996	0.27332	0.07161225	0.15356	0.11584996	0.27332	0.07161225	0.15355	-3.254	0.13151	T	.	.	0.143	0.31482	B	.	.	2.203206	0.28101	17.69	0.91985349370051916	0.21318	0.05868	0.11815	N	AEFDBHCI	0.054065	0.09798	N	-1.12903859983484	0.06132	0.2814402	-1.20507104331509	0.05828	0.2787952	0.999999927819922	0.74766	0.443343	0.08805	1	0.552344	0.17405	0	0.666236	0.60216	0	0.620976	0.48614	0	.	.	5.28	-4.68	0.03070	0.530000	0.22742	0.564000	0.19539	0.658000	0.54486	0.688000	0.28513	0.048000	0.21764	0.456000	0.28029	0.3242:0.0:0.401:0.2747	4.424	0.10921	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	615.98	43	chr9	136799725	.	A	T	615.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.464e+00;DP=762;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=-3.650e-01;SOR=0.616	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1139	20	0	1	0
chr9	136807034	136807034	T	C	exonic	CCDC183	.	nonsynonymous SNV	CCDC183:NM_001039374:exon13:c.T1454C:p.I485T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.999	D	0.994	D	.	.	1.000	D	1.78	L	1.69	T	-1.091	T	0.047	T	0.315	2.992	15.98	3.6	1.615	2.910	8.774	0.070	.	0.0068	0.00958466	0.0021	0.0240	0.0007	0	0	0.0002	0.0011	6.063e-05	0.0020957	324	154602	rs76153658	0.0007	0.0007	0.0008	0.0006	0.0222	0.0007	0.0006	0.0209	0.0203	0.0222	0.0015	0.0012	0	0	0.0021	4.227e-05	0.0016	0.0001	0.0064	0.0064	0.0071	0.0056	0.0218	0.0060	0.0059	0.0206	0.0201	0.0218	0	0.0028	0.0014	0	0	0	8.828e-05	0.0052	0	0.0	0.91255	D	0.006	0.70582	D	0.999	0.77913	D	0.994	0.82059	D	.	.	.	.	0.903626	0.27651	N	2.595	0.75868	M	1.69	0.27032	T	-3.53	0.68532	D	0.786	0.78262	-1.0908	0.05400	T	0.047	0.20037	T	9	0.0053237677	0.00117	T	.	.	.	0.070	0.20419	.	.	0.540243489925	0.53678	0.038936016276040715	0.03839	0.637984465512	0.57542	0.646115064621	0.59433	T	0.13569	0.46765	T	-0.43816	0.01326	T	-0.383909	0.35265	T	0.0320337689142643	0.02311	T	0.60284	0.22604	T	0.3810066	0.59389	0.5080786	0.71571	0.3810066	0.59389	0.5080786	0.71571	-3.356	0.14470	T	.	.	0.764	0.75643	P	.	.	4.028600	0.59550	24.1	0.99690718416582469	0.79909	0.74777	0.36589	D	AEFDGBCI	0.397495	0.47355	N	0.36690748801336	0.59637	4.144869	0.268305214837842	0.53699	3.537487	0.999999729909344	0.74766	0.455138	0.09556	0	0.435331	0.06439	0	0.606884	0.38211	0	0.618803	0.45993	0	.	.	3.6	3.6	0.40374	2.714000	0.46871	5.792000	0.49877	0.665000	0.62972	0.981000	0.35396	1.000000	0.68203	0.281000	0.24041	0.0:0.0:0.0:1.0	8.774	0.33912	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	795.98	38	chr9	136807034	.	T	C	795.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.311;DP=859;ExcessHet=0.0000;FS=0.953;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=0.105;SOR=0.569	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1358	20	0	1	0
chr9	136839281	136839281	C	T	exonic	RABL6	.	nonsynonymous SNV	RABL6:NM_001173988:exon12:c.C1556T:p.P519L	.	.	.	.	.	.	.	.	.	.	.	700903	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.33	T	0.993	D	0.89	P	0.398	U	1.000	N	1.935	M	-0.08	T	-0.840	T	0.239	T	0.144	2.663	14.87	2.07	0.414	1.146	8.052	0.132	.	0.0036	0.00379393	0.0013	0.0150	0.0003	0	0	0.0002	0.0015	0	0.001009	156	154602	rs144926317	0.0003	0.0003	0.0004	0.0003	0.0115	0.0003	0.0003	0.0105	0.0102	0.0115	0.0005	0.0007	0	0	0.0030	2.251e-05	0.0007	0	0.0035	0.0035	0.0038	0.0033	0.0122	0.0033	0.0032	0.0113	0.0110	0.0122	0	0.0014	0.0012	0	0	0	2.94e-05	0.0019	0	0.49	0.08188	T	0.073	0.53426	T	0.979	0.62325	D	0.778	0.63100	P	0.397778	0.13167	U	0.716271	0.999998	0.20152	N	2.39	0.68882	M	-0.09	0.64086	T	-1.83	0.42957	N	0.194	0.21319	-0.8402	0.52633	T	0.239	0.60667	T	10	0.004451871	0.00091	T	.	.	.	0.132	0.35948	.	.	0.425592409813	0.42174	0.14868552859551176	0.14790	0.00750058978399	0.00664	0.261873751879	0.05116	T	0.019611	0.15591	T	-0.486132	0.00683	T	-0.460683	0.26526	T	0.0102703231353284	0.00140	T	0.443756	0.12347	T	0.027661093	0.01991	0.03117527	0.01671	0.027661093	0.01990	0.03117527	0.01670	-4.737	0.34157	T	.	.	0.069	0.03964	B	.;.	.;.	1.249119	0.16459	12.55	0.99274715009202807	0.57696	0.45759	0.27609	N	AEFDGBHCI	0.127755	0.24526	N	-0.314787316046395	0.28585	1.57794	-0.558383478600892	0.20583	1.109634	0.999867305399311	0.44398	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.02	2.07	0.26004	-0.034000	0.12176	0.975000	0.23085	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.243:0.757:0.0:0.0	8.052	0.29747	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1863.98	36	chr9	136839281	.	C	T	1863.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.74;DP=821;ExcessHet=0.0000;FS=2.546;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.10;ReadPosRankSum=-1.876e+00;SOR=0.924	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1190	20	0	1	0
chr9	136840172	136840172	C	T	exonic	RABL6	.	nonsynonymous SNV	RABL6:NM_001173988:exon14:c.C1952T:p.P651L	.	.	0	1476	45	1	0	47	0.0156719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.008	B	0.01	B	0.064	N	0.893	N	1.935	M	0.01	T	-0.758	T	0.180	T	0.259	0.490	6.658	1.71	0.655	-0.034	5.636	0.057	.	0.0004	0.00599042	0.0042	0	0.0006	0	0	0.0011	0.0045	0.0254	0.0035705	552	154602	rs199511338	0.0023	0.0023	0.0015	0.0031	0.0267	0.0022	0.0022	0.0258	0.0254	0.0003	0.0005	0.0057	0	0	0.0038	0.0006	0.0030	0.0267	0.0014	0.0014	0.0009	0.0019	0.0257	0.0012	0.0012	0.0220	0.0207	2.412e-05	0	0.0005	0.0066	0	0	0.0102	0.0008	0.0009	0.0257	0.007	0.59928	D	0.026	0.55759	D	0.001	0.07471	B	0.001	0.06944	B	0.064161	0.21971	N	0.423315	0.893033	0.35995	D	1.645	0.42016	L	0.01	0.62459	T	-2.55	0.55181	D	0.141	0.14054	-0.7581	0.57508	T	0.180	0.52675	T	10	0.0036263168	0.00066	T	.	.	.	0.057	0.16321	.	.	0.20808081866	0.20439	0.020223135927298633	0.01975	0.00750058978399	0.00664	0.402918636799	0.25476	T	0.043344	0.26471	T	-0.441868	0.01261	T	-0.387892	0.34798	T	0.04071892717541	0.03822	T	0.70313	0.31322	T	0.06495735	0.13833	0.05147259	0.08289	0.06495735	0.13833	0.05147259	0.08289	-5.608	0.42865	T	.	.	0.066	0.03736	B	.;.	.;.	1.069927	0.14522	11.09	0.67009078154901069	0.08227	0.04785	0.10499	N	AEFDGBCI	0.064069	0.12420	N	-0.99731808221562	0.08661	0.4069295	-1.09121208782059	0.07872	0.3847027	0.999999947468259	0.74766	0.741868	0.97996	0	0.643519	0.57511	0	0.774882	0.98623	0	0.711	0.71501	0	.	.	2.62	1.71	0.23429	0.138000	0.15838	1.233000	0.25056	-0.278000	0.06506	0.000000	0.06391	0.001000	0.17328	0.071000	0.16709	0.0:0.8436:0.0:0.1564	5.636	0.16817	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1479.98	35	chr9	136840172	.	C	T	1479.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.433;DP=849;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.96;ReadPosRankSum=-2.000e-03;SOR=0.675	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1334	20	0	1	0
chr9	136853605	136853605	C	T	exonic	MAMDC4	.	nonsynonymous SNV	MAMDC4:NM_206920:exon4:c.C389T:p.S130L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.887	P	0.259	B	0.063	N	0.995	N	3.41	M	4.03	T	-0.991	T	0.027	T	0.368	2.518	14.38	4.52	2.064	2.149	14.712	0.150	0.0262065967981	.	.	1.702e-05	0	0	0	0	3.13e-05	0	0	1.29e-05	2	154602	rs755274526	1.233e-05	1.231e-05	1.635e-05	8.259e-06	5.974e-05	7.7e-06	6.36e-06	9.89e-06	3.88e-06	5.974e-05	2.236e-05	0.0002	0	0	0	9.893e-06	0	0	3.944e-05	3.94e-05	6.426e-05	1.346e-05	7.24e-05	1.716e-05	1.13e-05	1.92e-05	1.032e-05	7.24e-05	0	0	0	0	0	0	4.412e-05	0	0	0.071	0.53172	T	0.005	0.72224	D	0.887	0.48784	P	0.259	0.39405	B	0.062827	0.22069	N	0.386473	0.999579	0.23504	N	3.63	0.94006	H	4.03	0.03149	T	-4.5	0.78135	D	0.743	0.74280	-0.9914	0.32244	T	0.027	0.11485	T	10	0.9273427	0.92080	D	0.026207	0.49134	D	0.150	0.39571	0.835	0.94294	0.19670166235	0.19296	0.77437673468557	0.77387	0.185548957451	0.20862	0.455315053463	0.32670	T	0.182592	0.53465	T	-0.171792	0.24963	T	-0.401678	0.33188	T	0.943548858165741	0.61881	D	0.873313	0.58144	D	0.28857464	0.51859	0.2325595	0.48420	0.28857464	0.51859	0.2325595	0.48419	-4.225	0.33622	T	.	.	0.601	0.68913	P	.;.	.;.	3.619350	0.51212	23.1	0.99870156957603717	0.94815	0.50624	0.28706	D	AEFDGBCI	0.136359	0.25699	N	0.188383741633578	0.50643	3.252212	0.0697936382388288	0.43040	2.613974	0.999999789389592	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.604944	0.38103	0	.	.	4.52	4.52	0.54797	2.328000	0.43526	7.425000	0.58746	0.549000	0.26987	0.904000	0.31524	1.000000	0.68203	0.015000	0.10482	0.0:1.0:0.0:0.0	14.712	0.68853	964	0.07719	.;MAM domain|MAM domain|MAM domain|MAM domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1300.98	34	chr9	136853605	.	C	T	1300.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=811;ExcessHet=0.0000;FS=4.984;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=0.935;SOR=0.937	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	20	0	1	0
chr9	136858763	136858763	C	T	exonic	MAMDC4	.	nonsynonymous SNV	MAMDC4:NM_206920:exon23:c.C2866T:p.R956W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.984	D	0.557	N	0.994	N	2.255	M	4.46	T	-1.068	T	0.029	T	0.521	3.483	17.82	5.05	2.355	1.360	11.309	0.145	0.151278191275	.	.	0.0001	0	0	0	0	1.642e-05	0	0.0007	7.76e-05	12	154602	rs764314823	7.678e-05	7.73e-05	6.412e-05	8.957e-05	0.0007	6.504e-05	6.083e-05	0.0006	0.0005	0.0002	0	0	2.521e-05	0	0	3.06e-05	0.0001	0.0007	6.568e-06	6.566e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.004	0.65419	D	0.004	0.74150	D	1.0	0.90584	D	0.921	0.76113	D	0.557189	0.11374	N	0.733946	0.994415	0.23523	N	2.235	0.63160	M	4.46	0.02102	T	-2.85	0.64710	D	0.526	0.55626	-1.0684	0.09768	T	0.029	0.12365	T	10	0.43270752	0.57594	T	0.151278	0.83286	D	0.159	0.41286	0.647	0.78436	0.419335720491	0.41547	0.2870279637104598	0.28615	0.178256810229	0.20055	0.470365345478	0.34730	T	0.014433	0.12290	T	-0.372141	0.03487	T	-0.396486	0.33795	T	0.4771748483181	0.31794	T	0.855414	0.57175	D	0.13685507	0.31710	0.12971517	0.31184	0.13685507	0.31709	0.12971517	0.31183	-7.005	0.54070	T	.	.	0.132	0.28464	B	.;.	.;.	4.182018	0.62963	24.5	0.9991610548503882	0.98379	0.17322	0.19787	N	AEFDBCI	0.280451	0.39427	N	0.371315652482458	0.59874	4.170523	0.264280921607086	0.53467	3.51538	0.9999999743141	0.74766	0.676195	0.55175	0	0.550933	0.16991	0	0.564498	0.18976	0	0.664235	0.64389	0	.	.	5.05	5.05	0.67566	1.560000	0.35939	4.660000	0.44233	0.599000	0.40250	0.025000	0.20085	0.999000	0.35428	0.138000	0.19872	0.2922:0.7078:0.0:0.0	11.309	0.48592	958	0.09170	.;MAM domain|MAM domain|MAM domain|MAM domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1364.98	39	chr9	136858763	.	C	T	1364.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.91;DP=893;ExcessHet=0.0000;FS=2.420;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=1.45;SOR=0.473	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1377	20	0	1	0
chr9	136909938	136909938	C	T	exonic	TRAF2	.	nonsynonymous SNV	TRAF2:NM_021138:exon6:c.C547T:p.P183S,	.	.	.	.	.	.	.	.	.	.	.	2464270	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.935	P	0.734	P	0.000	D	1.000	D	2.515	M	1.45	T	-0.729	T	0.167	T	0.657	3.634	18.48	4.53	2.235	4.972	17.210	0.193	0.145787243379	.	.	1.676e-05	0	0	0	0	1.524e-05	0	6.13e-05	1.29e-05	2	154602	rs750248731	8.893e-06	8.893e-06	8.167e-06	9.626e-06	0.0002	4.96e-06	3.82e-06	3.765e-05	2.662e-05	0	0	0	0	0	0.0002	3.597e-06	1.656e-05	8.116e-05	1.314e-05	1.313e-05	2.569e-05	0	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.083	0.33091	T	0.116	0.42976	T	0.935	0.52277	P	0.734	0.55432	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.46	0.71463	M	1.45	0.32958	T	-5.52	0.85994	D	0.666	0.67477	-0.7290	0.59014	T	0.167	0.50583	T	10	0.41251552	0.56321	T	0.145787	0.82796	D	0.193	0.47281	.	.	0.406146819375	0.40232	0.6849484493718797	0.68433	0.683800107588	0.60187	0.530092716217	0.43048	T	0.354269	0.72144	T	-0.0408928	0.45816	T	-0.199662	0.54679	T	0.979909360408783	0.73075	D	0.878012	0.59262	D	0.31348094	0.54085	0.30058476	0.56092	0.31348094	0.54085	0.30058476	0.56091	-5.888	0.45333	T	.	.	0.148	0.41372	B	.;.	.;.	4.280481	0.65203	24.8	0.99872143954748671	0.94989	0.96379	0.68851	D	AEFGBI	0.520660	0.54542	D	0.450348338376533	0.64223	4.672015	0.426351019389987	0.63213	4.550557	0.999999998773506	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.53	4.53	0.55009	6.767000	0.74770	4.671000	0.44278	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0:1.0:0.0:0.0	17.210	0.86811	808	0.43318	.;Zinc finger, TRAF-type|Zinc finger, TRAF-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1545.98	39	chr9	136909938	.	C	T	1545.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.610e-01;DP=897;ExcessHet=0.0000;FS=1.544;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.93;ReadPosRankSum=-5.790e-01;SOR=0.509	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr9	136923953	136923953	A	G	exonic	TRAF2	.	nonsynonymous SNV	TRAF2:NM_021138:exon10:c.A1240G:p.M414V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.905	P	0.746	P	0.000	D	1.000	D	2.77	M	0.92	T	-0.648	T	0.217	T	0.633	4.026	20.6	3.7	0.879	9.069	10.403	0.343	0.0822622531809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	0.905	0.49920	P	0.746	0.55899	P	0.000000	0.84330	D	0.115717	0.999995	0.58761	D	2.59	0.75718	M	0.92	0.44461	T	-3.93	0.73267	D	0.912	0.91391	-0.6482	0.62792	T	0.217	0.57915	T	10	0.876235	0.86915	D	0.082262	0.73862	D	0.343	0.66488	0.62	0.75461	0.477934191719	0.47424	0.9491208337491038	0.94895	1.92793944721	0.93087	0.679981946945	0.64265	T	0.550193	0.84755	D	0.0473608	0.58002	T	-0.169746	0.57467	T	0.986574947834015	0.77258	D	0.932607	0.74787	D	0.81901276	0.85153	0.79930526	0.88226	0.81901276	0.85154	0.79930526	0.88227	-10.399	0.76265	D	.	.	0.625	0.69902	P	.	.	4.783163	0.77554	26.7	0.99479046687724237	0.66795	0.99677	0.98583	D	AEFGBI	0.896789	0.83824	D	0.468059479282598	0.65235	4.797051	0.460220453712247	0.65375	4.815946	0.999999316492598	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.84	3.7	0.41607	9.256000	0.94719	11.093000	0.85967	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.9224:0.0:0.0776:0.0	10.403	0.43425	840	0.37365	MATH/TRAF domain|MATH/TRAF domain|TNF receptor-associated factor 2, MATH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	886.98	34	chr9	136923953	.	A	G	886.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.10;DP=810;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=1.20;SOR=0.650	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1388	20	0	1	0
chr9	136925852	136925852	G	A	exonic	TRAF2	.	nonsynonymous SNV	TRAF2:NM_021138:exon11:c.G1457A:p.R486Q,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.956	D	0.000	D	1.000	D	2.3	M	0.95	T	-0.572	T	0.240	T	0.169	4.465	23.8	3.6	1.105	6.313	13.555	0.230	0.0354330416766	.	.	8.246e-06	0	0	0	0	0	0	6.058e-05	3.23e-05	5	154602	rs748138586	2.668e-05	2.668e-05	2.314e-05	3.025e-05	0.0003	1.997e-05	1.754e-05	6.092e-05	2.521e-05	2.987e-05	2.236e-05	0	2.519e-05	1.873e-05	0.0003	2.518e-05	1.656e-05	4.637e-05	0	6.567e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.009	0.57480	D	0.011	0.64786	D	0.998	0.73220	D	0.86	0.61233	P	0.000000	0.84330	D	0.055361	0.999841	0.50806	D	2.35	0.67516	M	0.95	0.43279	T	-2.86	0.60188	D	0.288	0.32591	-0.5723	0.65923	T	0.240	0.60762	T	10	0.50343233	0.61680	D	0.035433	0.56343	D	0.230	0.53062	0.637	0.77361	0.517039506269	0.51347	0.6860597718530687	0.68545	1.50659773284	0.87146	0.572624206543	0.49049	T	0.437048	0.78321	T	-0.276174	0.11077	T	-0.452953	0.27370	T	0.869189500808716	0.51913	D	0.976002	0.91601	D	0.6103529	0.73247	0.3995576	0.64515	0.6103529	0.73248	0.3995576	0.64515	-9.969	0.73726	D	.	.	0.119	0.24498	B	.	.	5.494840	0.91521	32	0.9993311768902341	0.99488	0.88729	0.48797	D	AEFDGBHCI	0.457366	0.50884	N	0.565608535391141	0.71036	5.590463	0.487661781098968	0.67173	5.048469	0.999999903415875	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	4.52	3.6	0.40374	5.635000	0.67514	6.587000	0.56014	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1573:0.8427:0.0	13.555	0.61215	845	0.36510	MATH/TRAF domain|TNF receptor-associated factor 2, MATH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1160.98	33	chr9	136925852	.	G	A	1160.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.623;DP=782;ExcessHet=0.0000;FS=0.837;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.66;ReadPosRankSum=-4.640e-01;SOR=0.860	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1439	20	0	1	0
chr9	136953874	136953874	C	T	exonic	LCN12	.	nonsynonymous SNV	LCN12:NM_178536:exon4:c.C358T:p.R120W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.971	D	0.451	N	1.000	N	1.3	L	3.2	T	-1.067	T	0.041	T	0.312	2.356	13.84	1.51	0.561	0.333	8.621	0.051	0.0254161898031	0.0002	.	8.899e-05	0.0006	0	0.0002	0	0	0	0.0002	4.53e-05	7	154602	rs199664164	2.202e-05	2.257e-05	2.052e-05	2.354e-05	0.0002	1.594e-05	1.364e-05	5.861e-05	3.765e-05	0.0001	0	0	2.539e-05	1.931e-05	0.0002	1.353e-05	6.663e-05	5.893e-05	3.943e-05	3.94e-05	7.71e-05	0	0.0001	1.716e-05	1.13e-05	6.286e-05	4.302e-05	0.0001	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.01	0.65728	D	0.999	0.77913	D	0.938	0.67350	D	0.450918	0.12508	N	0.598164	1	0.08975	N	1.915	0.51223	L	3.2	0.07236	T	-5.01	0.82450	D	0.22	0.24634	-1.0669	0.10108	T	0.041	0.17785	T	10	0.22615185	0.39463	T	0.025416	0.48390	D	0.051	0.14325	.	.	0.405422107966	0.40158	0.7037286149950095	0.70313	0.530923129554	0.50614	0.285827457905	0.08318	T	0.04865	0.28079	T	-0.411199	0.01951	T	-0.538292	0.18465	T	0.911412596702576	0.56697	D	0.506949	0.16072	T	0.25148207	0.48157	0.20582154	0.44768	0.25148207	0.48157	0.20582154	0.44767	-4.16	0.26170	T	.	.	0.074	0.05188	B	.	.	1.920309	0.24388	16.38	0.99747678953076913	0.84002	0.02301	0.06614	N	AEFGBI	0.146033	0.26938	N	-0.359909058263808	0.26910	1.472342	-0.616413921714482	0.19071	1.02165	0.965396413368758	0.28828	0.700653	0.57754	0	0.588066	0.40923	0	0.717052	0.78885	0	0.562822	0.20929	0	.	.	2.45	1.51	0.22094	-0.030000	0.12257	1.293000	0.25425	-0.237000	0.07570	0.000000	0.06391	0.001000	0.17328	0.000000	0.00833	0.229:0.771:0.0:0.0	8.621	0.33023	912	0.21483	Lipocalin/cytosolic fatty-acid binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1183.98	43	chr9	136953874	.	C	T	1183.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.76;DP=885;ExcessHet=0.0000;FS=0.904;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.58;ReadPosRankSum=-2.378e+00;SOR=0.886	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1225	20	0	1	0
chr9	136953889	136953889	G	A	exonic	LCN12	.	nonsynonymous SNV	LCN12:NM_178536:exon4:c.G373A:p.D125N,	.	.	426	1086	10	0	0	10	0.00458295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87	T	0.339	B	0.131	B	0.004	N	1.000	N	1.525	L	2.57	T	-0.961	T	0.013	T	0.084	-0.304	2.550	-1.87	-0.489	0.199	3.442	0.044	.	0.0060	0.00299521	0.0064	0.0020	0.0052	0	0.0011	0.0100	0.005	0.0008	0.0050517	781	154602	rs45578835	0.0071	0.0071	0.0072	0.0069	0.0125	0.0070	0.0069	0.0102	0.0093	0.0015	0.0045	0.0052	0	0.0018	0.0125	0.0084	0.0065	0.0009	0.0052	0.0052	0.0062	0.0042	0.0087	0.0049	0.0048	0.0081	0.0079	0.0014	0.0011	0.0057	0.0052	0.0002	0.0015	0.0034	0.0087	0.0066	0.0015	0.459	0.08762	T	0.269	0.22426	T	0.112	0.26290	B	0.054	0.25828	B	0.003709	0.34585	N	0.000000	0.999998	0.08975	N	0.665	0.16292	N	2.57	0.13552	T	-1.65	0.39503	N	0.243	0.27435	-0.9613	0.38936	T	0.013	0.05273	T	10	0.011012107	0.00243	T	.	.	.	0.044	0.11924	.	.	0.0716867268079	0.06686	0.6027618277831336	0.60207	0.232371919152	0.25783	0.381644427776	0.22490	T	0.016536	0.13648	T	-0.677145	0.00050	T	-0.737486	0.03997	T	0.00822070585622763	0.00098	T	0.429357	0.11628	T	0.037968848	0.04970	0.034087673	0.02415	0.037968848	0.04970	0.034087673	0.02415	-4.761	0.34133	T	.	.	0.071	0.03849	B	.	.	0.804528	0.11755	8.328	0.61236164496484946	0.06659	0.00268	0.01460	N	AEFGBI	0.065064	0.12669	N	-1.60098984045406	0.01259	0.05480543	-1.69916942202197	0.01141	0.05131377	0.953254002651997	0.28063	0.700653	0.57754	0	0.588066	0.40923	0	0.717052	0.78885	0	0.562822	0.20929	0	.	.	2.45	-1.87	0.07317	0.225000	0.17538	1.526000	0.27126	-0.865000	0.02600	0.005000	0.17040	0.915000	0.28207	0.002000	0.04165	0.4972:0.0:0.3128:0.1901	3.442	0.07037	912	0.21483	Lipocalin/cytosolic fatty-acid binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1223.98	43	chr9	136953889	.	G	A	1223.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.270e-01;DP=853;ExcessHet=0.0000;FS=3.775;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.36;ReadPosRankSum=-2.534e+00;SOR=1.106	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1225	20	0	1	0
chr9	136992935	136992935	T	C	exonic	PAXX	.	nonsynonymous SNV	PAXX:NM_001329678:exon3:c.T191C:p.F64S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.187	B	0.055	B	0.723	N	1.000	N	2.015	M	.	.	-0.946	T	0.090	T	0.506	1.133	9.617	-0.28	0.122	0.102	1.339	0.123	0.00858878084866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.24372	T	0.271	0.22291	T	0.187	0.29285	B	0.055	0.25995	B	0.723415	0.09915	N	0.859412	1	0.08975	N	.	.	.	.	.	.	-1.96	0.45404	N	0.166	0.17553	-0.9460	0.41648	T	0.090	0.34436	T	9	0.07450923	0.11398	T	0.008589	0.22705	T	0.123	0.34020	0.335	0.32329	0.290620346082	0.28682	0.5691093305285959	0.56838	0.322961452868	0.34468	.	.	.	0.036854	0.24261	T	-0.0263539	0.47944	T	-0.275632	0.47250	T	0.0848597847813787	0.10597	T	0.610439	0.23144	T	0.32890812	0.55382	0.17679209	0.40238	0.32890812	0.55382	0.17679209	0.40237	-3.2	0.12480	T	.	.	0.236	0.46983	B	.	.	2.105628	0.26793	17.24	0.94554465726488823	0.25073	0.10523	0.16006	N	ALL	0.126035	0.24280	N	-0.692552296045956	0.16233	0.8252204	-0.774158846732555	0.15130	0.7941744	0.999999969127982	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.638787	0.57140	0	.	.	4.24	-0.28	0.12248	-0.084000	0.11233	0.942000	0.22859	0.609000	0.47794	0.000000	0.06391	0.001000	0.17328	0.905000	0.44082	0.305:0.0948:0.1394:0.4607	1.339	0.02021	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	640.98	55	chr9	136992935	.	T	C	640.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.127e+00;DP=773;ExcessHet=0.0000;FS=3.749;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=-8.840e-01;SOR=0.590	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,106,1342	20	0	1	0
chr9	136994963	136994963	-	T	exonic	CLIC3	.	frameshift insertion	CLIC3:NM_004669:exon5:c.518dupA:p.D173Efs*75,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs897554800	0.0001	0.0001	0.0001	0.0001	0.0013	9.591e-05	9.033e-05	0.0005	0.0003	0.0005	0.0005	0	0	0	0.0013	9.126e-05	0.0003	0	0.0003	0.0003	0.0003	0.0003	0.0014	0.0002	0.0002	0.0010	0.0008	0.0004	0	0.0014	0	0	0	0.0068	7.382e-05	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2372.94	25	chr9	136994963	.	G	GT	2372.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=820;ExcessHet=0.0000;FS=4.578;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.56;ReadPosRankSum=0.186;SOR=0.685	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr9	136995001	136995001	G	T	exonic	CLIC3	.	nonsynonymous SNV	CLIC3:NM_004669:exon5:c.C481A:p.R161S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	0.999	D	2.665	M	-3.34	D	0.937	D	0.880	D	0.511	4.396	23.3	4.28	2.196	1.725	11.725	0.719	0.797126124766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.955e-06	4.104e-06	1.455e-06	4.503e-06	3.756e-06	6.9e-07	4.7e-07	8.8e-07	5.9e-07	0	0	0	0	0	0	3.756e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.007	0.69154	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999429	0.47006	D	3.145	0.88303	M	-3.34	0.93975	D	-5.51	0.85921	D	0.379	0.42050	0.937	0.96201	D	0.880	0.96018	D	10	0.6999692	0.72381	D	0.797126	0.98411	D	0.719	0.90056	0.443	0.49975	0.96170463862	0.96129	0.8071269675331062	0.80667	1.63632663427	0.89315	0.555182158947	0.46587	T	0.468625	0.80249	T	0.175567	0.71635	D	0.014413	0.71269	D	0.994342803955078	0.85578	D	0.988918	0.96255	D	0.9515174	0.96420	0.7834878	0.87242	0.9515174	0.96420	0.7834878	0.87243	-9.74	0.72341	D	.	.	0.935	0.85458	P	.	.	4.602660	0.72918	25.9	0.99752771176264565	0.84382	0.77194	0.37928	D	AEFDGBCIJ	0.637332	0.61615	D	0.603741292895103	0.73412	5.961729	0.518398929978473	0.69230	5.330644	0.99999998241323	0.74766	0.608966	0.35542	0	0.550933	0.16991	0	0.578056	0.29568	0	0.505526	0.08623	0	.	.	4.28	4.28	0.50183	1.468000	0.34941	8.255000	0.76867	0.524000	0.24156	0.975000	0.34726	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.8232:0.1768	11.725	0.50968	976	0.04745	Glutathione S-transferase, C-terminal-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1681.98	29	chr9	136995001	.	G	T	1681.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.580e-01;DP=862;ExcessHet=0.0000;FS=4.470;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.01;ReadPosRankSum=0.881;SOR=0.935	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr9	137020772	137020772	G	A	exonic	ABCA2	.	nonsynonymous SNV	ABCA2:NM_001606:exon9:c.C1187T:p.P396L	.	.	.	.	.	.	.	.	.	.	.	3256945	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.33	T	0.062	B	0.007	B	0.001	N	1.000	N	0.345	N	-2.14	D	-1.010	T	0.051	T	0.206	-0.088	3.571	1.67	0.458	-0.545	7.705	0.028	0.0958729978031	.	.	1.62e-05	0	0	0	0	3.052e-05	0	0	6.5e-06	1	154602	rs745512312	4.296e-05	4.583e-05	4.82e-05	3.765e-05	5.064e-05	3.42e-05	3.104e-05	3.998e-05	3.593e-05	0	0	0	2.56e-05	4.399e-05	0	5.064e-05	3.35e-05	1.18e-05	1.314e-05	1.313e-05	0	2.69e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.144	0.25560	T	0.07	0.45530	T	0.0	0.02946	B	0.0	0.01387	B	0.001248	0.00759	N	26.783200	1	0.08975	N	0.69	0.16971	N	-2.14	0.86415	D	-0.86	0.23372	N	0.059	0.04668	-1.0104	0.26791	T	0.051	0.21533	T	10	0.10133305	0.18507	T	0.095873	0.76504	D	0.162	0.41843	0.324	0.30549	0.31316556289	0.30919	0.42254321922112514	0.42171	0.459510645001	0.45530	0.567435324192	0.48316	T	0.282301	0.65503	T	-0.0970973	0.36905	T	-0.37725	0.36043	T	0.0254539139568806	0.01332	T	0.679032	0.28770	T	0.03174712	0.03071	0.028444849	0.01081	0.03174712	0.03070	0.028444849	0.01081	-3.287	0.13660	T	.	.	0.116	0.24532	B	.;.;.;.	.;.;.;.	1.218766	0.16123	12.33	0.50155327310915754	0.04334	0.08087	0.14058	N	AEFBI	0.072642	0.14503	N	-0.687995225285053	0.16363	0.8329846	-0.779415489822789	0.14999	0.7866883	0.988277861902086	0.31460	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	4.86	1.67	0.23149	-0.499000	0.06494	3.290000	0.37298	-0.113000	0.14837	0.000000	0.06391	0.425000	0.24826	0.056000	0.15673	0.0728:0.2879:0.5412:0.0982	7.705	0.27814	982	0.03397	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1204.98	36	chr9	137020772	.	G	A	1204.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.640e-01;DP=817;ExcessHet=0.0000;FS=0.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=2.02;SOR=0.796	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr9	137030714	137030714	G	T	exonic	FUT7	.	nonsynonymous SNV	FUT7:NM_004479:exon2:c.C1025A:p.A342D,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.361	B	0.08	B	0.952	U	0.995	N	1.5	L	1.5	T	-1.016	T	0.070	T	0.111	0.830	8.346	2.92	0.805	0.407	10.044	0.027	0.021404458377	.	0.000399361	0.0003	0	8.892e-05	0	0	3.155e-05	0	0.0019	0.0002329	36	154602	rs541065313	6.642e-05	6.772e-05	4.36e-05	8.947e-05	0.0010	5.567e-05	5.157e-05	0.0008	0.0008	0	0	0	0	0	0.0003	8.994e-07	0.0001	0.0010	4.596e-05	4.593e-05	3.855e-05	5.372e-05	0.0012	2.108e-05	1.526e-05	0.0005	0.0004	0	0	0	0	0	0	0	1.47e-05	0	0.0012	0.006	0.61437	D	0.013	0.63109	D	0.361	0.33905	B	0.08	0.28873	B	0.952178	0.07663	U	1.027940	0.994801	0.23439	N	1.935	0.51832	L	1.5	0.31205	T	-1.11	0.28703	N	0.274	0.31027	-1.0165	0.24852	T	0.070	0.28577	T	10	0.0113886	0.00249	T	0.021404	0.44174	T	0.027	0.05988	0.403	0.43408	0.082315109003	0.07666	0.3499250841954162	0.34906	0.722767165993	0.62308	0.487100422382	0.37038	T	0.05367	0.29507	T	-0.512535	0.00486	T	-0.549531	0.17370	T	0.0899118198913524	0.11208	T	0.59994	0.22366	T	0.21400747	0.43794	0.29673532	0.55707	0.21400747	0.43794	0.29673532	0.55706	-5.075	0.37643	T	.	.	0.175	0.38263	B	.	.	2.286830	0.29245	18.06	0.98514840425302119	0.42386	0.24659	0.22462	N	ALL	0.233717	0.35660	N	-0.584019628047489	0.19429	1.016837	-0.587012419053291	0.19831	1.065782	0.999999999998535	0.74766	0.403107	0.06075	0	0.573149	0.20659	1	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.83	2.92	0.32998	0.287000	0.18678	1.834000	0.29138	-0.156000	0.11795	0.010000	0.18352	0.930000	0.28522	0.657000	0.32885	0.0:0.0:0.6341:0.3659	10.044	0.41345	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1450.98	34	chr9	137030714	.	G	T	1450.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.124e+00;DP=819;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=-1.199e+00;SOR=0.660	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1059	20	0	1	0
chr9	137051225	137051225	C	T	exonic	ENTPD2	.	nonsynonymous SNV	ENTPD2:NM_001246:exon4:c.G532A:p.E178K	.	.	432	1084	6	0	0	6	0.00275989	.	.	2823667	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.21	T	1.0	D	0.999	D	0.000	D	1.000	D	1.925	M	2.83	T	-1.156	T	0.054	T	0.637	4.605	25.1	4.51	2.328	5.553	16.360	0.219	0.045190224002	0.0062	0.00119808	0.0055	0.0016	0.0023	0	0.0023	0.0088	0.0022	0.0013	0.0054268	839	154602	rs76730730	0.0075	0.0075	0.0077	0.0074	0.0093	0.0074	0.0074	0.0091	0.0090	0.0012	0.0026	0.0003	0	0.0025	0.0003	0.0093	0.0054	0.0010	0.0046	0.0046	0.0052	0.0040	0.0081	0.0043	0.0042	0.0075	0.0073	0.0016	0.0022	0.0041	0	0	0.0015	0	0.0081	0.0019	0.0008	0.091	0.37536	T	0.173	0.30143	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999969	0.52935	D	2.195	0.61839	M	2.83	0.10771	T	-2.72	0.57920	D	0.634	0.64733	-1.1563	0.00850	T	0.054	0.22959	T	10	0.012442589	0.00267	T	0.04519	0.61857	D	0.219	0.51417	.	.	0.718346079901	0.71586	0.8736257368295273	0.87328	0.369265190435	0.38454	0.71075373888	0.68702	T	0.112339	0.42853	T	-0.372401	0.03474	T	-0.297317	0.45008	T	0.0218495455353041	0.00892	T	0.940673	0.77758	D	0.8140864	0.84824	0.6734924	0.80834	0.8140864	0.84825	0.6734924	0.80835	-9.524	0.71008	D	.	.	0.394	0.66450	A	.;.	.;.	5.359213	0.89882	31	0.99901336912038574	0.97275	0.96422	0.69061	D	AEFDGBHCI	0.744647	0.68757	D	0.628725256775922	0.74999	6.22901	0.592900224758422	0.74429	6.135661	0.99999923184933	0.74766	0.676563	0.55306	0	0.844039	0.99811	0	0.673471	0.61138	0	0.562822	0.20929	0	.	.	4.51	4.51	0.54589	4.841000	0.62523	7.528000	0.59870	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	16.360	0.83096	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1159.98	36	chr9	137051225	.	C	T	1159.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.641;DP=874;ExcessHet=0.0000;FS=1.484;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.91;ReadPosRankSum=0.694;SOR=0.630	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1162	20	0	1	0
chr9	137066267	137066267	C	T	exonic	SAPCD2	.	nonsynonymous SNV	SAPCD2:NM_178448:exon2:c.G679A:p.G227S,	.	.	418	1099	5	0	0	5	0.00226963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.003	B	0.003	B	0.006	N	0.881	N	0.205	N	-1.24	T	-0.965	T	0.185	T	0.116	0.182	4.982	2.0	0.306	0.585	8.069	0.106	0.106269634642	0.0009	.	0.0013	0	0.0002	0	0	0.0018	0	0.0017	0.0006533	101	154602	rs141130282	0.0009	0.0009	0.0008	0.0009	0.0049	0.0008	0.0008	0.0033	0.0028	0.0004	0.0001	0.0041	0	3.929e-05	0.0049	0.0008	0.0011	0.0014	0.0006	0.0006	0.0007	0.0006	0.0009	0.0005	0.0005	0.0008	0.0007	0.0001	0	0.0004	0.0037	0	0	0.0068	0.0009	0.0019	0.0008	0.555	0.06482	T	0.529	0.10138	T	0.003	0.11197	B	0.003	0.08700	B	0.005522	0.32720	N	0.244948	0.881192	0.28046	N	0.77	0.19370	N	-1.24	0.78967	T	-0.69	0.19720	N	0.165	0.17416	-0.9648	0.38250	T	0.185	0.53436	T	10	0.006007552	0.00135	T	0.10627	0.78179	D	0.106	0.30130	.	.	0.207176502487	0.20327	0.11879052694946	0.11806	0.336465546684	0.35643	0.628489375114	0.56930	T	0.049946	0.28454	T	-0.451242	0.01111	T	-0.461487	0.26436	T	0.0121190866866525	0.00193	T	0.70043	0.31009	T	0.030807039	0.02807	0.05218553	0.08547	0.030807039	0.02807	0.05218553	0.08546	-4.681	0.33173	T	.	.	0.077	0.06525	B	.	.	1.256200	0.16537	12.60	0.91076469012777472	0.20328	0.12138	0.17083	N	AEFGBI	0.077421	0.15599	N	-1.13469283955611	0.06036	0.2767785	-1.08305480667273	0.08034	0.3932766	0.999985831689783	0.51787	0.700653	0.57754	0	0.694456	0.67091	0	0.717052	0.78885	0	0.699875	0.68795	0	.	.	3.88	2.0	0.25495	0.269000	0.18354	0.315000	0.17124	-0.191000	0.09375	0.000000	0.06391	0.019000	0.20708	0.670000	0.33251	0.0:0.7084:0.0:0.2916	8.069	0.29841	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	230.33	30	chr9	137066267	.	C	T	230.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.08;DP=656;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=7.68;ReadPosRankSum=0.837;SOR=0.495	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1059	19	0	1	1
chr9	137079340	137079340	A	G	exonic	UAP1L1	.	nonsynonymous SNV	UAP1L1:NM_207309:exon5:c.A928G:p.I310V,	.	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.021	B	0.089	B	0.001	N	0.974	D	1.55	L	2.59	T	-1.075	T	0.029	T	0.118	2.093	12.95	-0.475	-0.046	0.546	5.747	0.037	0.00756657724063	.	.	6.652e-05	0	0	0	0	3.039e-05	0.0011	0.0003	5.17e-05	8	154602	rs746033411	5.545e-05	5.541e-05	4.359e-05	6.743e-05	0.0007	4.546e-05	4.158e-05	0.0003	0.0003	0	0	0	0	1.901e-05	0.0007	3.148e-05	8.283e-05	0.0004	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.084	0.37536	T	0.081	0.41742	T	0.021	0.18474	B	0.089	0.29769	B	0.000979	0.40836	N	0.275088	0.974379	0.39099	D	1.965	0.53209	M	2.59	0.13317	T	-0.64	0.18877	N	0.063	0.03841	-1.0745	0.08452	T	0.029	0.12497	T	10	0.07638538	0.11926	T	0.007567	0.20086	T	0.037	0.09474	0.643	0.78010	0.0401082797425	0.02173	0.46866430027046585	0.46785	0.217646575872	0.24287	0.355811864138	0.18774	T	0.014174	0.12117	T	-0.510728	0.00497	T	-0.649436	0.08993	T	0.0377244846848824	0.03283	T	0.888711	0.61924	D	0.034782548	0.03970	0.042601824	0.05110	0.034782548	0.03970	0.042601824	0.05110	-7.129	0.56947	T	.	.	0.174	0.38208	B	.;.	.;.	2.700458	0.35275	19.85	0.95881011427132756	0.28076	0.91907	0.54522	D	AEFDGBI	0.250252	0.37033	N	-0.621297394756116	0.18306	0.9492935	-0.550133884854247	0.20803	1.122468	0.999988086653102	0.51787	0.706548	0.73137	0	0.696144	0.67643	0	0.619478	0.44681	0	0.714379	0.83352	0	.	.	4.91	-0.475	0.11501	0.546000	0.22991	0.278000	0.16735	-0.118000	0.14412	0.994000	0.38300	0.549000	0.25458	0.927000	0.46353	0.5661:0.1387:0.2952:0.0	5.747	0.17392	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1062.98	42	chr9	137079340	.	A	G	1062.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.830e-01;DP=1295;ExcessHet=0.0000;FS=0.771;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.19;ReadPosRankSum=0.075;SOR=0.839	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,120,1800	20	0	1	0
chr9	137112002	137112002	C	T	exonic	DPP7	.	nonsynonymous SNV	DPP7:NM_013379:exon10:c.G1078A:p.A360T,	.	.	.	.	.	.	.	.	.	.	.	3247917	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.153	B	0.046	B	0.589	N	1.000	N	-0.345	N	3.0	T	-0.947	T	0.009	T	0.08	0.912	8.710	0.871	-0.020	0.153	3.623	0.076	0.0147863884615	7.7e-05	.	4.148e-05	0	0	0.0001	0	6.042e-05	0	0	3.88e-05	6	154602	rs145954715	5.337e-05	5.336e-05	5.583e-05	5.089e-05	6.746e-05	4.345e-05	4.018e-05	5.51e-05	5.026e-05	0	2.237e-05	0	2.519e-05	0	0	6.746e-05	1.656e-05	0	6.575e-06	6.567e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.207	0.19854	T	0.493	0.11443	T	0.153	0.28093	B	0.046	0.24676	B	0.589156	0.11067	N	0.787937	1	0.08975	N	-0.185	0.04235	N	3.0	0.09167	T	-0.78	0.21644	N	0.11	0.09631	-0.9469	0.41498	T	0.009	0.03315	T	10	0.08487612	0.14270	T	0.014786	0.35134	T	0.076	0.22200	.	.	0.0666544352282	0.05500	0.7898957265533059	0.78941	0.0786725316196	0.08852	0.334217905998	0.15570	T	0.003553	0.02960	T	-0.459752	0.00987	T	-0.72905	0.04370	T	0.0304899290204048	0.02066	T	0.893711	0.63166	D	0.119155824	0.28061	0.067987226	0.14139	0.119155824	0.28061	0.067987226	0.14139	-6.401	0.49517	T	.	.	0.106	0.19720	B	.	.	2.657837	0.34622	19.68	0.97466333922977322	0.34110	0.07497	0.13512	N	AEFDGBCI	0.136695	0.25744	N	-1.17749645986723	0.05341	0.2432584	-1.13904464613197	0.06966	0.3371499	0.999987207772921	0.51787	0.732398	0.92422	0	0.702456	0.74545	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	3.97	0.871	0.18244	0.121000	0.15496	0.943000	0.22867	0.597000	0.34315	0.000000	0.06391	0.166000	0.23302	0.875000	0.41745	0.2196:0.4529:0.0:0.3276	3.623	0.07646	988	0.01987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1186.98	82	chr9	137112002	.	C	T	1186.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.630e-01;DP=1569;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=0.498;SOR=0.704	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	20	0	1	0
chr9	137169135	137169135	G	C	exonic	LRRC26	.	nonsynonymous SNV	LRRC26:NM_001013653:exon2:c.C724G:p.L242V,	.	.	392	1129	1	0	0	1	0.000442674	.	.	700915	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.13	T	0.615	P	0.1	B	0.172	N	1.000	N	1.915	M	-0.52	T	-0.967	T	0.076	T	0.058	1.584	11.25	0.165	0.495	-0.343	2.044	0.076	.	0.0051	0.00758786	0.0026	0.0352	0.0018	0	0	0	0.0044	0.0001	0.0019081	295	154602	rs150046809	0.0007	0.0007	0.0007	0.0006	0.0264	0.0006	0.0006	0.0248	0.0242	0.0264	0.0016	0	0	0	0.0004	1.284e-05	0.0014	4.967e-05	0.0070	0.0070	0.0071	0.0068	0.0244	0.0066	0.0065	0.0232	0.0227	0.0244	0	0.0018	0	0	0	0	4.414e-05	0.0076	0.0002	0.058	0.37750	T	0.304	0.20100	T	0.615	0.39791	P	0.1	0.30674	B	0.171626	0.17357	N	0.464462	1	0.08975	N	2.27	0.64531	M	-0.52	0.70717	T	-1.07	0.27876	N	0.134	0.13055	-0.9674	0.37733	T	0.076	0.30429	T	10	0.0028005242	0.00044	T	.	.	.	0.076	0.22200	.	.	0.27132560031	0.26736	0.33152162522003015	0.33065	0.794739902805	0.65995	0.623958170414	0.56288	T	0.008303	0.07627	T	-0.550404	0.00290	T	-0.54514	0.17796	T	0.00668775603556411	0.00075	T	0.448055	0.12582	T	0.0764354	0.17286	0.05714825	0.10338	0.0764354	0.17286	0.05714825	0.10338	-4.924	0.36004	T	.	.	0.105	0.19235	B	.	.	1.635086	0.20874	14.95	0.96057483382910569	0.28582	0.04576	0.10223	N	AEFDGBHCI	0.120702	0.23500	N	-0.557361066789779	0.20253	1.066337	-0.673088858735301	0.17635	0.9385876	0.999986764922906	0.51787	0.652421	0.48094	0	0.706955	0.78570	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	3.97	0.165	0.14282	-0.579000	0.05927	1.052000	0.23646	0.566000	0.28629	0.000000	0.06391	0.284000	0.24125	0.620000	0.31896	0.1554:0.1676:0.4854:0.1916	2.044	0.03341	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1560.98	33	chr9	137169135	.	G	C	1560.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.955e+00;DP=865;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.07;ReadPosRankSum=-1.497e+00;SOR=0.726	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1168	20	0	1	0
chr9	137169418	137169418	C	G	exonic	LRRC26	.	nonsynonymous SNV	LRRC26:NM_001013653:exon1:c.G526C:p.D176H,	.	.	427	1085	10	0	0	10	0.00458716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.948	P	0.901	P	0.002	N	1.000	N	-0.15	N	0.46	T	-1.024	T	0.128	T	0.282	3.214	16.77	3.23	0.714	0.024	6.319	0.118	0.580358652543	.	0.000998403	0.0028	0	0.0023	0.0071	0	0.0002	0	0.0044	0.0003234	50	154602	rs563732337	0.0003	0.0003	0.0001	0.0004	0.0033	0.0002	0.0002	0.0030	0.0028	0	5.809e-05	0	0.0004	0	0.0016	5.777e-05	0.0003	0.0033	0.0002	0.0002	3.858e-05	0.0003	0.0033	0.0001	8.72e-05	0.0021	0.0017	0	0	0	0	0.0008	0	0	4.413e-05	0	0.0033	0.004	0.65419	D	0.168	0.30631	T	0.948	0.53620	P	0.901	0.63994	P	0.001747	0.38106	N	0.114825	1	0.08975	N	-0.02	0.05091	N	0.46	0.56281	T	-3.59	0.69236	D	0.285	0.32259	-1.0237	0.22508	T	0.128	0.43625	T	10	0.0070390403	0.00160	T	0.580359	0.96237	D	0.118	0.32913	0.261	0.20473	0.340510301474	0.33666	0.5399067227243248	0.53915	1.64548930497	0.89442	0.921778619289	0.98456	D	0.063147	0.32101	T	-0.449385	0.01139	T	-0.421338	0.30922	T	0.109117556538985	0.13332	T	0.738226	0.35599	T	0.3814089	0.59418	0.3889117	0.63724	0.3814089	0.59418	0.3889117	0.63723	-5.531	0.42157	T	.	.	0.405	0.59832	A	.	.	4.024500	0.59468	24.1	0.99123202392481891	0.53037	0.04624	0.10287	N	ALL	0.135305	0.25560	N	-0.288043707976386	0.29610	1.643498	-0.382218038222062	0.25527	1.404369	0.99999999998509	0.74766	0.443343	0.08805	1	0.560097	0.17682	1	0.606814	0.37721	0	0.603991	0.37454	0	.	.	4.14	3.23	0.36150	0.171000	0.16497	2.463000	0.32863	0.503000	0.22915	0.002000	0.15269	0.996000	0.32793	0.835000	0.39381	0.0:0.7667:0.0:0.2333	6.319	0.20413	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	383.98	33	chr9	137169418	.	C	G	383.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.050e-01;DP=764;ExcessHet=0.0000;FS=6.207;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.68;ReadPosRankSum=-6.100e-02;SOR=1.008	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1168	20	0	1	0
chr9	137169519	137169519	A	C	exonic	LRRC26	.	nonsynonymous SNV	LRRC26:NM_001013653:exon1:c.T425G:p.L142R,	.	.	431	1078	13	0	0	13	0.00599355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.002	N	0.965	D	4.415	H	3.59	T	-0.964	T	0.083	T	0.733	3.141	16.50	4.14	1.500	3.517	6.268	0.269	0.453145995777	.	0.000998403	0.0052	0.0035	0.0049	0	0	0.0013	0	0.0072	0.0005498	85	154602	rs532802522	0.0005	0.0005	0.0003	0.0006	0.0062	0.0004	0.0004	0.0058	0.0056	3.438e-05	0.0003	0.0003	2.931e-05	0	0.0044	7.631e-05	0.0007	0.0062	0.0005	0.0005	0.0003	0.0008	0.0056	0.0004	0.0004	0.0039	0.0034	4.813e-05	0	0.0027	0.0009	0	0	0	0.0001	0	0.0056	0.019	0.50132	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.002186	0.37053	N	0.000000	0.96542	0.38467	D	4.255	0.98070	H	3.59	0.04544	T	-4.28	0.76334	D	0.714	0.71676	-0.9643	0.38350	T	0.083	0.32556	T	10	0.07249701	0.10829	T	0.453146	0.94379	D	0.269	0.58381	0.907	0.98068	0.50539470866	0.50177	0.5839449485821246	0.58323	1.83200647507	0.92061	0.91601729393	0.98005	D	0.360377	0.72663	T	-0.288284	0.09809	T	-0.18329	0.56217	T	0.116531804214541	0.14087	T	0.558444	0.19458	T	0.60605323	0.73016	0.6238569	0.78079	0.60605323	0.73017	0.6238569	0.78080	-12.749	0.88302	D	.	.	0.752	0.75157	P	.	.	4.518965	0.70831	25.6	0.99668429547880644	0.78394	0.52538	0.29155	D	ALL	0.474485	0.51873	N	0.677889401193372	0.78182	6.820648	0.49112423817239	0.67399	5.079024	0.999999999999979	0.74766	0.443343	0.08805	1	0.552344	0.17405	0	0.666236	0.60216	0	0.603991	0.37454	0	.	.	4.14	4.14	0.47821	2.444000	0.44549	7.718000	0.67175	0.626000	0.51810	0.934000	0.32416	1.000000	0.68203	0.519000	0.29452	0.8827:0.0:0.1173:0.0	6.268	0.20148	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1261.11	33	chr9	137169519	.	A	C	1261.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.129e+00;DP=834;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.03;ReadPosRankSum=1.20;SOR=0.656	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1168	19	0	2	0
chr9	137171436	137171436	A	G	exonic	TMEM210	.	nonsynonymous SNV	TMEM210:NM_001282477:exon3:c.T232C:p.C78R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0865429938913	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1372937289	2.169e-06	2.052e-06	1.427e-06	2.93e-06	3.166e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	3.166e-05	0	0	0	0	0	1.854e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	1.385	0.34509	L	.	.	.	-6.9	0.93293	D	0.273	0.30914	.	.	.	.	.	.	.	0.16801155	0.31329	T	0.086543	0.74757	D	.	.	.	.	0.0986583533028	0.09354	0.10168264689638203	0.10099	6.2886556297E-4	0.00059	.	.	.	0.125093	0.45056	T	-0.260438	0.12849	T	-0.352198	0.38953	T	.	.	.	0.377862	0.09067	T	0.6364701	0.74643	0.54453856	0.73673	0.6364701	0.74644	0.54453856	0.73674	-1.716	0.02271	T	.	.	0.112	0.21840	B	.	.	1.292254	0.16934	12.85	0.79240635066253706	0.12653	0.03344	0.08425	N	AEFDGBHCI	0.174632	0.30177	N	.	.	.	.	.	.	0.999987779426984	0.51787	0.59774	0.34471	0	0.578056	0.33634	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	3.37	0.996	0.18963	0.253000	0.18066	0.672000	0.20602	-0.092000	0.16129	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.728:0.0:0.272:0.0	4.872	0.12995	994	0.00715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	563.98	37	chr9	137171436	.	A	G	563.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=789;ExcessHet=0.0000;FS=0.926;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.73;ReadPosRankSum=-1.400e+00;SOR=0.812	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr9	137187596	137187596	G	C	exonic	ANAPC2	.	nonsynonymous SNV	ANAPC2:NM_013366:exon2:c.C625G:p.R209G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.978	D	0.969	D	0.004	N	0.538	D	0	N	-1.15	T	-0.431	T	0.342	T	0.624	0.486	6.637	3.7	2.365	1.282	11.245	0.345	0.050189862333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.521	0.07235	T	0.379	0.16037	T	0.962	0.55554	D	0.931	0.66596	D	0.004167	0.34034	N	0.206543	0.538466	0.32034	D	0	0.06538	N	-1.15	0.77964	T	-0.62	0.18248	N	0.353	0.39457	-0.4307	0.71044	T	0.342	0.70754	T	10	0.32703018	0.49992	T	0.05019	0.64138	D	0.345	0.66676	0.394	0.41935	0.881854005816	0.88070	0.4884437196963223	0.48764	0.800854512451	0.66244	0.789007306099	0.80291	T	0.350913	0.71856	T	0.0357222	0.56481	T	-0.186464	0.55921	T	0.456344574689865	0.31031	T	0.782522	0.41827	T	0.26511195	0.49580	0.09993523	0.23879	0.26511195	0.49580	0.09993523	0.23878	-3.912	0.22482	T	.	.	0.325	0.54883	B	.	.	3.382504	0.46789	22.4	0.86382796126629813	0.16499	0.75137	0.36776	D	AEFDGBI	0.294684	0.40499	N	0.181480159663104	0.50311	3.222232	0.202691398472655	0.49995	3.196386	0.999999243737983	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	3.7	3.7	0.41607	0.909000	0.28180	11.060000	0.85425	0.676000	0.76740	0.857000	0.30561	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	11.245	0.48221	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1404.98	35	chr9	137187596	.	G	C	1404.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=846;ExcessHet=0.0000;FS=2.179;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.04;ReadPosRankSum=-1.472e+00;SOR=0.511	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1383	20	0	1	0
chr9	137189882	137189882	G	A	exonic	SSNA1	.	nonsynonymous SNV	SSNA1:NM_003731:exon3:c.G328A:p.D110N,	.	.	423	1091	8	0	0	8	0.00365297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.187	B	0.035	B	0.152	N	0.939	D	0.895	L	.	.	-1.018	T	0.095	T	0.052	3.376	17.38	3.41	1.746	5.701	10.190	0.225	0.00636938222477	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1340989423	6.842e-06	6.84e-06	2.723e-06	1.1e-05	0.0002	3.46e-06	2.52e-06	1.94e-06	1.28e-06	2.987e-05	0	0	0	0	0.0002	5.396e-06	3.312e-05	0	1.313e-05	1.313e-05	1.284e-05	1.344e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.168	0.23007	T	0.352	0.19188	T	0.187	0.29285	B	0.035	0.22741	B	0.151713	0.17946	N	0.550036	0.939341	0.37257	D	1.245	0.31408	L	.	.	.	0.23	0.04613	N	0.148	0.15046	-1.0178	0.24431	T	0.095	0.35897	T	9	0.13579977	0.25840	T	0.006369	0.16754	T	0.225	0.52323	0.106	0.01810	0.219573609325	0.21563	0.23601147270389553	0.23516	0.622957177787	0.56534	0.429586946964	0.29151	T	0.058656	0.30901	T	-0.369603	0.03614	T	-0.586539	0.13967	T	0.418257862329483	0.29626	T	0.787021	0.44372	T	0.0647341	0.13765	0.067478575	0.13964	0.0647341	0.13764	0.067478575	0.13963	-3.707	0.19422	T	.	.	0.095	0.18663	B	.;.	.;.	3.554655	0.49988	22.9	0.99507870664332621	0.68440	0.75070	0.36741	D	AEFGBCI	0.533339	0.55283	D	-0.330196928883723	0.28006	1.541203	-0.222023231182195	0.30748	1.733969	0.999999996927194	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	3.41	3.41	0.38145	4.273000	0.58711	9.801000	0.81695	0.618000	0.50648	0.986000	0.36153	1.000000	0.68203	0.959000	0.51448	0.0:0.0:1.0:0.0	10.190	0.42197	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	689.98	39	chr9	137189882	.	G	A	689.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.000e-01;DP=761;ExcessHet=0.0000;FS=2.040;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.45;ReadPosRankSum=0.819;SOR=1.081	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1201	20	0	1	0
chr9	137199456	137199456	G	A	exonic	TPRN	.	nonsynonymous SNV	TPRN:NM_001128228:exon1:c.C1256T:p.P419L,	Deafness, autosomal recessive 79, Autosomal recessive	.	0	1505	17	0	0	17	0.00561612	.	.	655956	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.01	D	0.959	D	0.301	B	0.132	N	0.991	N	1.995	M	.	.	-0.985	T	0.078	T	0.342	1.775	11.89	2.49	1.763	0.342	7.942	0.085	.	0.0015	0.00239617	0.0049	0.0008	0.0015	0	0.0004	0.0043	0.0043	0.0125	0.0024903	385	154602	rs149753507	0.0024	0.0024	0.0022	0.0026	0.0097	0.0023	0.0023	0.0092	0.0090	0.0002	0.0007	7.708e-05	5.1e-05	0.0003	0.0028	0.0023	0.0014	0.0097	0.0016	0.0016	0.0016	0.0017	0.0072	0.0015	0.0014	0.0054	0.0047	0.0006	0	0.0009	0	0	9.407e-05	0.0034	0.0026	0.0005	0.0072	0.003	0.68238	D	0.027	0.66756	D	0.959	0.55135	D	0.301	0.41090	B	0.131938	0.18605	N	0.451388	0.991112	0.24080	N	1.75	0.45442	L	.	.	.	-2.17	0.49018	N	0.229	0.25745	-0.9848	0.33879	T	0.078	0.31133	T	9	0.0038635433	0.00073	T	.	.	.	0.085	0.24743	.	.	0.134241683229	0.13084	0.3390038826880828	0.33813	.	.	0.406837284565	0.26019	T	0.013847	0.11897	T	-0.385213	0.02887	T	-0.319427	0.42637	T	0.0101801590738123	0.00138	T	0.679332	0.30283	T	0.047417782	0.08101	0.09815122	0.23389	0.06648775	0.14309	0.08869811	0.20696	-4.193	0.26650	T	0.5639274063526069	0.63149	0.103	0.18372	B	.;.	.;.	3.246163	0.44328	21.9	0.99679859853542863	0.79174	0.11340	0.16569	N	AEFDGBHCI	0.080201	0.16210	N	-0.185639922118141	0.33731	1.917103	-0.323299599580389	0.27347	1.516871	0.999997072495709	0.74766	0.766844	0.99359	0	0.685571	0.66316	0	0.851219	0.99655	0	0.604282	0.37693	0	.	.	3.47	2.49	0.29274	1.018000	0.29604	8.154000	0.76719	0.586000	0.30580	0.001000	0.13787	1.000000	0.68203	0.107000	0.18608	0.0:0.0:0.757:0.243	7.942	0.29127	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1417.98	33	chr9	137199456	.	G	A	1417.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.300e-01;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=0.391;SOR=0.724	GT:AD:DP:GQ:PL	0/1:60,61:121:99:1432,0,1409	20	0	1	0
chr9	137200095	137200095	G	A	exonic	TPRN	.	nonsynonymous SNV	TPRN:NM_001128228:exon1:c.C617T:p.T206I,	Deafness, autosomal recessive 79, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1177163	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.197	B	0.035	B	.	.	0.999	N	0.975	L	.	.	-1.024	T	0.069	T	0.137	-0.676	1.051	1.66	0.498	0.684	5.166	0.010	0.638208846878	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs576809784	8.481e-05	9.713e-05	0.0001	6e-05	0.0035	7.082e-05	6.602e-05	0.0029	0.0027	0.0035	0.0004	0	0	0	0	3.07e-06	0.0002	0	0.0010	0.0010	0.0011	0.0009	0.0035	0.0009	0.0008	0.0030	0.0028	0.0035	0	0.0003	0	0	0	0	0	0.0014	0	0.0	0.91255	D	0.0	0.92824	D	0.197	0.29559	B	0.035	0.22741	B	.	.	.	.	0.998591	0.22050	N	0.345	0.11182	N	.	.	.	-1.17	0.29933	N	0.078	0.05287	-1.0238	0.22476	T	0.069	0.28247	T	8	0.009312004	0.00210	T	0.638209	0.96910	D	0.010	0.01040	0.353	0.35246	0.0138822411134	0.00435	0.30378163898610705	0.30291	.	.	0.956094622612	0.99861	D	0.00538	0.04831	T	-0.483101	0.00710	T	-0.469769	0.25541	T	0.108032145221963	0.13218	T	0.476352	0.14579	T	0.05402265	0.10307	0.06524014	0.13195	0.05402265	0.10306	0.06524014	0.13195	-6.809	0.52626	T	0.19520442891456152	0.25743	0.178	0.38818	B	.;.	.;.	1.926291	0.24464	16.41	0.89635201326933467	0.18968	0.15081	0.18734	N	AEFDGBCI	0.061295	0.11708	N	-0.618354904412115	0.18392	0.9545589	-0.609179223276128	0.19257	1.032395	0.999988096134848	0.51787	0.65757	0.49021	0	0.405561	0.06353	1	0.619478	0.44681	0	0.56751	0.32155	0	.	.	3.58	1.66	0.23081	0.690000	0.25132	6.020000	0.52779	0.487000	0.22268	0.285000	0.25187	1.000000	0.68203	0.386000	0.26469	0.2869:0.0:0.7131:0.0	5.166	0.14412	988	0.01987	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1007.98	33	chr9	137200095	.	G	A	1007.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.452e+00;DP=788;ExcessHet=0.0000;FS=5.072;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.20;ReadPosRankSum=3.27;SOR=0.298	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	20	0	1	0
chr9	137213809	137213809	G	A	exonic	NDOR1	.	nonsynonymous SNV	NDOR1:NM_001144026:exon4:c.G341A:p.R114Q	.	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.998	D	0.955	D	0.000	N	0.999	D	1.135	L	0.3	T	-0.746	T	0.227	T	0.225	3.964	20.3	4.23	2.098	4.409	7.055	0.138	0.0545086770463	0.0015	0.000599042	0.0012	0.0002	0.0011	0	0.0002	0.0017	0	0.0011	0.0011966	185	154602	rs139188702	0.0018	0.0018	0.0018	0.0017	0.0021	0.0017	0.0017	0.0020	0.0020	0.0003	0.0011	0.0003	5.041e-05	0.0005	0.0007	0.0021	0.0016	0.0011	0.0013	0.0013	0.0014	0.0011	0.0025	0.0011	0.0011	0.0019	0.0016	0.0006	0	0.0025	0	0	0.0003	0	0.0019	0.0009	0.0004	0.009	0.57480	D	0.022	0.58613	D	0.997	0.70673	D	0.925	0.65999	D	0.000067	0.52346	N	0.121518	0.999332	0.46701	D	1.435	0.35949	L	0.3	0.58755	T	-2.44	0.53898	N	0.498	0.53269	-0.7455	0.58170	T	0.227	0.59196	T	10	0.030026317	0.01129	T	0.054509	0.65882	D	0.138	0.37187	.	.	0.708829442706	0.70629	0.4200894549873495	0.41924	0.334934122327	0.35502	0.567457079887	0.48318	T	0.027	0.20077	T	-0.402267	0.02237	T	-0.357869	0.38298	T	0.0886291638016701	0.11054	T	0.975069	0.96869	D	0.56760263	0.70928	0.42712018	0.66467	0.56760263	0.70930	0.42712018	0.66467	-6.422	0.51531	T	.	.	0.184	0.43842	B	.;.;.;.	.;.;.;.	4.552812	0.71668	25.7	0.99922659700644501	0.98852	0.46346	0.27739	N	AEFDGBHCI	0.179511	0.30680	N	0.293772523348845	0.55833	3.747349	0.324910592669107	0.57008	3.865186	0.999999999649751	0.74766	0.712529	0.81865	0	0.702456	0.74545	0	0.779548	0.98927	0	0.691587	0.68394	0	.	.	4.23	4.23	0.49319	5.440000	0.66312	8.604000	0.77740	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.834000	0.39329	0.2008:0.0:0.7992:0.0	7.055	0.24274	988	0.01987	.;.;.;Flavodoxin/nitric oxide synthase|Flavodoxin/nitric oxide synthase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	762.98	34	chr9	137213809	.	G	A	762.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.048;DP=775;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.22;ReadPosRankSum=1.88;SOR=0.719	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1181	20	0	1	0
chr9	137214269	137214269	G	A	exonic	NDOR1	.	nonsynonymous SNV	NDOR1:NM_001144027:exon5:c.G476A:p.R159Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.001	B	0.001	B	0.930	N	1.000	N	-0.345	N	-1.61	D	-0.896	T	0.184	T	0.081	1.539	11.10	-8.87	-2.048	-4.714	7.327	0.190	0.0958609551469	.	.	8.334e-06	0	0	0	0	1.519e-05	0	0	6.5e-06	1	154602	rs758562274	6.843e-06	6.84e-06	6.809e-06	6.877e-06	0.0001	3.46e-06	2.52e-06	3.348e-05	1.981e-05	0	2.236e-05	0	0.0001	0	0	4.496e-06	0	0	1.971e-05	1.97e-05	0	4.035e-05	0.0002	5.24e-06	2.45e-06	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	0.614	0.05720	T	0.607	0.07972	T	0.001	0.07471	B	0.001	0.04355	B	0.930429	0.07532	N	1.037760	1	0.08975	N	0.345	0.11182	N	-1.61	0.82254	D	-0.19	0.09965	N	0.129	0.13484	-0.8959	0.48399	T	0.184	0.53255	T	10	0.043741763	0.03256	T	0.095861	0.76502	D	0.190	0.46781	0.183	0.09131	0.369867359543	0.36593	0.23494764652057049	0.23409	0.215602792781	0.24092	0.211733281612	0.00887	T	0.003663	0.03070	T	-0.219785	0.18022	T	-0.553482	0.16992	T	0.0598706339798982	0.07149	T	0.469153	0.14745	T	0.019606765	0.00495	0.022694817	0.00289	0.019606765	0.00495	0.022694817	0.00289	-2.552	0.10887	T	.	.	0.070	0.04119	B	.;.;.;.	.;.;.;.	-1.330209	0.00413	0.008	0.85135201823450135	0.15706	0.02339	0.06686	N	AEFBI	0.044953	0.07294	N	-1.88816080995009	0.00363	0.01560184	-1.9711344293892	0.00352	0.01554222	0.999999981867439	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.43	-8.87	0.00682	-4.523000	0.00254	-4.392000	0.02180	-0.941000	0.02090	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3066:0.3215:0.3718:0.0	7.327	0.25733	988	0.01987	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2612.98	34	chr9	137214269	.	G	A	2612.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.81;DP=932;ExcessHet=0.0000;FS=2.843;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.84;ReadPosRankSum=-1.690e-01;SOR=0.968	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1181	20	0	1	0
chr9	137215991	137215991	C	G	exonic	NDOR1	.	nonsynonymous SNV	NDOR1:NM_001144027:exon11:c.C1426G:p.L476V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.837	P	0.773	P	0.000	D	0.574	N	1.655	L	-1.21	T	0.194	D	0.594	D	0.411	1.216	9.936	3.37	0.983	2.503	11.023	0.446	0.513721370391	7.7e-05	.	4.982e-05	0.0006	0	0	0	0	0	0	3.84e-05	1	26028	rs112987747	1.232e-05	1.231e-05	1.498e-05	9.631e-06	0.0003	7.7e-06	6.35e-06	0.0002	0.0001	0.0003	0	0	0	0	0	0	0.0001	1.159e-05	7.22e-05	7.217e-05	7.707e-05	6.711e-05	0.0002	3.967e-05	3.124e-05	0.0001	9.908e-05	0.0002	0	0	0	0.0002	0	0	0	0	0	0.085	0.32769	T	0.087	0.40747	T	0.603	0.42183	P	0.421	0.56974	B	0.000002	0.62929	D	0.000000	0.573861	0.31156	N	1.62	0.41497	L	-1.21	0.85393	T	-2.25	0.50337	N	0.665	0.68429	0.194	0.85810	D	0.594	0.85504	D	10	0.75491494	0.75910	D	0.513721	0.95341	D	0.446	0.74797	.	.	0.789371558365	0.78741	0.6336507676126091	0.63299	0.621158581907	0.56409	0.434181123972	0.29781	T	0.157658	0.50035	T	0.0472988	0.57994	T	-0.169835	0.57459	T	0.171474909118574	0.18679	T	0.749125	0.39577	T	0.17931527	0.38996	0.15330075	0.36029	0.17931527	0.38996	0.15330075	0.36028	-7.511	0.62060	D	.	.	0.088	0.11558	B	.;.;.;.	.;.;.;.	1.985872	0.25231	16.69	0.98508963549445716	0.42313	0.42910	0.26982	N	AEFGBI	0.194506	0.32159	N	-0.285979110089849	0.29688	1.648671	-0.428740234386771	0.24158	1.321353	0.999993469386039	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.3	3.37	0.37692	3.288000	0.51446	0.774000	0.21422	0.599000	0.40250	0.995000	0.38783	0.210000	0.23636	0.138000	0.19872	0.1876:0.8124:0.0:0.0	11.023	0.46944	988	0.01987	.;.;.;Oxidoreductase FAD/NAD(P)-binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1316.98	67	chr9	137215991	.	C	G	1316.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.672e+00;DP=1013;ExcessHet=0.0000;FS=2.696;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.16;ReadPosRankSum=0.408;SOR=0.981	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr9	137216285	137216285	A	G	exonic	NDOR1	.	nonsynonymous SNV	NDOR1:NM_001144026:exon14:c.A1690G:p.M564V	.	.	417	1093	12	0	0	12	0.00545951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.96	D	0.000	D	1.000	D	.	.	-3.49	D	0.453	D	0.764	D	0.262	2.145	13.13	1.32	0.071	3.651	5.332	0.506	.	0.0080	0.00698882	0.0031	0.0241	0.0017	0	0	0.0009	0.0011	0.0028	0.0030013	464	154602	rs75647712	0.0014	0.0014	0.0015	0.0014	0.0276	0.0014	0.0014	0.0262	0.0256	0.0276	0.0019	0.0013	0	0	0.0035	0.0005	0.0027	0.0031	0.0082	0.0082	0.0086	0.0078	0.0260	0.0078	0.0077	0.0247	0.0242	0.0260	0.0044	0.0048	0.0020	0	0	0.0068	0.0007	0.0095	0.0037	0.003	0.68238	D	0.005	0.72224	D	0.996	0.68779	D	0.933	0.66815	D	0.000000	0.84330	D	0.086182	0.999832	0.81001	D	.	.	.	-3.49	0.94621	D	-3.13	0.63901	D	0.548	0.68690	0.453	0.89873	D	0.764	0.91953	D	9	0.011333287	0.00248	T	.	.	.	0.506	0.78724	.	.	0.87308272854	0.87184	0.7487532325093471	0.74821	0.629133186474	0.56967	0.480909883976	0.36182	T	0.44837	0.79028	T	-0.253177	0.13712	T	-0.116176	0.62115	T	0.0496555705096417	0.05439	T	0.837416	0.50983	T	0.49214098	0.66630	0.42788908	0.66520	0.49214098	0.66631	0.42788908	0.66520	-10.636	0.79201	D	.	.	0.298	0.58814	B	.;.;.	.;.;.	2.731068	0.35751	19.98	0.97089143432021052	0.32315	0.96122	0.67633	D	AEFGBI	0.255713	0.37478	N	0.0240550685196933	0.42950	2.597686	-0.143379270227046	0.33663	1.928039	0.999947320098647	0.47345	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.91	1.32	0.20897	0.574000	0.23416	3.917000	0.40446	0.756000	0.94297	0.049000	0.21372	1.000000	0.68203	0.060000	0.15972	0.6442:0.1812:0.0:0.1746	5.332	0.15244	988	0.01987	.;.;Oxidoreductase FAD/NAD(P)-binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1431.98	41	chr9	137216285	.	A	G	1431.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.686;DP=997;ExcessHet=0.0000;FS=2.154;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.08;ReadPosRankSum=-1.033e+00;SOR=0.497	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr9	137216297	137216297	G	A	exonic	NDOR1	.	nonsynonymous SNV	NDOR1:NM_001144026:exon14:c.G1702A:p.V568I	.	.	414	1097	11	0	0	11	0.00498866	.	.	2379735	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.97	D	0.764	P	0.000	N	0.508	D	.	.	-1.62	D	0.070	D	0.543	D	0.146	2.037	12.77	1.02	0.029	1.837	7.426	0.323	0.19990525706	0.0004	.	0.0004	0.0003	0	0	0	0.0007	0.0011	6.06e-05	0.0003428	53	154602	rs138917451	0.0003	0.0003	0.0003	0.0003	0.0057	0.0003	0.0002	0.0042	0.0037	0.0003	0.0001	0.0046	0	0	0.0057	0.0002	0.0009	9.275e-05	0.0004	0.0004	0.0004	0.0004	0.0004	0.0003	0.0003	0.0002	0.0002	0.0002	0	0.0004	0.0049	0	0	0.0102	0.0003	0.0019	0.0004	0.031	0.45039	D	0.0	0.92824	D	0.97	0.56973	D	0.652	0.56591	P	0.000126	0.49741	N	0.133677	0.508252	0.31798	D	.	.	.	-1.62	0.82347	D	-0.81	0.22294	N	0.163	0.26837	0.070	0.83609	D	0.543	0.83156	D	9	0.023507833	0.00617	T	0.199905	0.86678	D	0.323	0.64522	.	.	0.845724468965	0.84424	0.5270060314101321	0.52624	0.443225284467	0.44258	0.421189934015	0.28000	T	0.170304	0.51800	T	-0.278265	0.10851	T	-0.307484	0.43928	T	0.0465635372940066	0.04886	T	0.712529	0.32403	T	0.04705268	0.07978	0.05465569	0.09440	0.04705268	0.07978	0.05465569	0.09439	-7.014	0.55020	T	.	.	0.138	0.30211	B	.;.;.	.;.;.	3.563393	0.50150	22.9	0.9895815227231648	0.49266	0.73817	0.36106	D	AEFGBI	0.067775	0.13338	N	-0.332271344065268	0.27929	1.536312	-0.501557008566777	0.22112	1.199365	0.999943748054974	0.47345	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.91	1.02	0.19102	4.372000	0.59300	6.548000	0.55903	-0.113000	0.14837	0.993000	0.37899	1.000000	0.68203	0.024000	0.12247	0.2948:0.0:0.7052:0.0	7.426	0.26275	988	0.01987	.;.;Oxidoreductase FAD/NAD(P)-binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1214.98	41	chr9	137216297	.	G	A	1214.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.427;DP=925;ExcessHet=0.0000;FS=1.674;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=-1.418e+00;SOR=0.968	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr9	137244284	137244285	AG	-	exonic	FAM166A	.	frameshift deletion	FAM166A:NM_001001710:exon6:c.751_752del:p.L251Vfs*2,	.	.	422	1092	8	0	0	8	0.00364964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0048	0.00199681	0.0049	0.0017	0.0028	0	0.0046	0.0075	0.0056	0.0008	0.0009221	24	26028	rs570890546	0.0055	0.0055	0.0056	0.0054	0.0068	0.0054	0.0054	0.0063	0.0062	0.0011	0.0031	0.0034	0	0.0044	0.0068	0.0064	0.0055	0.0007	0.0038	0.0038	0.0043	0.0032	0.0066	0.0035	0.0034	0.0061	0.0059	0.0012	0	0.0018	0.0032	0	0.0025	0.0102	0.0066	0.0043	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1880.94	37	chr9	137244283	.	CAG	C	1880.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.914e+00;DP=840;ExcessHet=0.0000;FS=1.629;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.26;ReadPosRankSum=1.56;SOR=0.486	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr9	137253229	137253229	C	G	exonic	STPG3	.	nonsynonymous SNV	STPG3:NM_001004353:exon6:c.C911G:p.P304R	.	.	421	1086	14	1	0	16	0.00731261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.983	D	0.389	N	1.000	N	.	.	-0.45	T	-0.366	T	0.453	T	.	2.917	15.72	4.44	2.299	2.375	12.433	0.387	0.349345909129	0.0002	0.000399361	0.0015	0.0002	0.0009	0	0	0.0004	0.0019	0.0077	0.0008538	132	154602	rs200714944	0.0006	0.0006	0.0004	0.0009	0.0077	0.0006	0.0006	0.0072	0.0070	0.0001	0.0002	0	2.535e-05	5.781e-05	0.0014	0.0002	0.0005	0.0077	0.0005	0.0005	0.0003	0.0006	0.0099	0.0004	0.0004	0.0077	0.0069	4.81e-05	0	0.0002	0	0	9.413e-05	0	0.0002	0.0009	0.0099	0.0	0.91255	D	0.0	0.92824	D	0.997	0.90584	D	0.936	0.75793	D	0.389029	0.13282	N	0.565465	1	0.81001	D	.	.	.	-0.45	0.69896	T	-7.66	0.95511	D	0.618	0.71321	-0.3660	0.73083	T	0.453	0.78621	T	9	0.020294905	0.00465	T	0.349346	0.92226	D	0.387	0.70358	.	.	0.839025879729	0.83748	.	.	.	.	.	.	.	0.175538	0.52516	T	-0.237474	0.15672	T	-0.110445	0.62575	T	0.128931111114548	0.15282	T	0.59504	0.22051	T	.	.	.	.	.	.	.	.	-12.128	0.85469	D	.	.	0.409	0.71844	A	.;.	.;.	3.512106	0.49190	22.7	0.99803232255767416	0.88817	0.65069	0.32615	D	AEFGBHCI	0.259508	0.37784	N	0.415924520764194	0.62296	4.443355	0.347242523318712	0.58343	4.004145	0.999999903214658	0.74766	0.554377	0.28877	0	0.624146	0.53433	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.44	4.44	0.53164	0.107000	0.15212	5.714000	0.49438	0.599000	0.40250	0.000000	0.06391	1.000000	0.68203	0.585000	0.31016	0.0:1.0:0.0:0.0	12.433	0.54919	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1025.98	113	chr9	137253229	.	C	G	1025.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.267e+00;DP=880;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.08;ReadPosRankSum=2.14;SOR=0.759	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,103,1475	20	0	1	0
chr9	137306981	137306981	G	A	exonic	EXD3	.	nonsynonymous SNV	EXD3:NM_017820:exon22:c.C2600T:p.P867L,	.	.	420	1072	30	0	0	30	0.0137994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.005	B	0.004	B	.	.	1.000	N	0.69	N	0.63	T	-1.055	T	0.084	T	0.105	1.236	10.02	-6.17	-1.915	-2.324	2.096	0.035	.	0.0038	0.00778754	0.0068	0.0006	0.0033	0.0001	0.0021	0.0059	0.0094	0.0271	0.0058343	902	154602	rs118011827	0.0049	0.0049	0.0044	0.0055	0.0177	0.0048	0.0048	0.0170	0.0167	0.0006	0.0036	0.0045	5.061e-05	0.0017	0.0132	0.0044	0.0056	0.0177	0.0037	0.0037	0.0038	0.0036	0.0180	0.0034	0.0033	0.0150	0.0138	0.0011	0	0.0041	0.0063	0	0.0015	0	0.0046	0.0057	0.0180	0.289	0.15047	T	0.089	0.40426	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	0.63	0.53088	T	-0.84	0.22944	N	0.064	0.03613	-1.0552	0.12987	T	0.084	0.32814	T	9	0.002650559	0.00041	T	.	.	.	0.035	0.08770	.	.	0.0401082797425	0.02173	0.13143889159918148	0.13068	0.0537485315339	0.05938	0.293423980474	0.09424	T	0.004025	0.03433	T	-0.625299	0.00102	T	-0.656038	0.08536	T	0.000714748461818774	0.00006	T	0.49875	0.15541	T	0.025869284	0.01574	0.032090463	0.01891	0.025869284	0.01573	0.032090463	0.01891	-4.971	0.36523	T	.	.	0.080	0.07745	B	.	.	-0.270247	0.02750	0.368	0.72097194850595092	0.09855	0.00862	0.03425	N	AEFBI	0.048889	0.08390	N	-1.73501616686814	0.00725	0.03129348	-1.84216125642774	0.00633	0.02814956	0.999996336862171	0.74766	0.608966	0.35542	0	0.588066	0.40923	0	0.769059	0.98459	0	0.505526	0.08623	0	.	.	3.79	-6.17	0.01912	-1.162000	0.03252	-3.500000	0.02739	-0.922000	0.02193	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.122:0.226:0.3855:0.2666	2.096	0.03445	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2266.11	37	chr9	137306981	.	G	A	2266.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.211e+00;DP=830;ExcessHet=0.1072;FS=0.605;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.91;ReadPosRankSum=1.04;SOR=0.637	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,945	19	0	2	0
chr9	137478118	137478118	G	A	exonic	PNPLA7	.	nonsynonymous SNV	PNPLA7:NM_152286:exon24:c.C2723T:p.P908L	.	.	324	1190	8	0	0	8	0.00335008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.876	P	0.000	D	1.000	D	2.175	M	1.9	T	-1.158	T	0.005	T	0.661	2.892	15.64	4.67	2.130	9.077	16.550	0.306	.	0.0008	0.0259585	0.0158	0.0016	0	0.2107	0	0.0015	0.0128	0.0085	0.0055756	862	154602	rs3812499	0.0042	0.0044	0.0044	0.0041	0.1444	0.0041	0.0041	0.1406	0.1391	0.0008	0.0003	0	0.1444	0.0019	0.0014	0.0005	0.0077	0.0026	0.0053	0.0053	0.0044	0.0062	0.1200	0.0050	0.0049	0.1122	0.1091	0.0017	0	0.0007	0	0.1200	0.0017	0.0034	0.0006	0.0047	0.0077	0.004	0.68238	D	0.013	0.63109	D	0.894	0.90584	P	0.217	0.62173	B	0.000026	0.55875	D	0.121229	1	0.81001	D	2.455	0.71248	M	1.9	0.23486	T	-5.69	0.87300	D	0.458	0.52563	-1.1583	0.00798	T	0.005	0.01833	T	10	0.0019916296	0.00028	T	.	.	.	0.306	0.62729	.	.	0.185906805712	0.18197	0.5196086035143735	0.51883	0.620131027719	0.56338	0.619185328484	0.55614	T	0.073525	0.34717	T	-0.390055	0.02688	T	-0.189244	0.55661	T	0.0993701841965336	0.12288	T	0.945605	0.79272	D	0.21578923	0.44021	0.21654856	0.46286	0.21578923	0.44021	0.21654856	0.46285	-10.372	0.77002	D	.	.	0.198	0.42052	B	.;.	.;.	3.199308	0.43497	21.7	0.99785641736046971	0.87219	0.98323	0.81627	D	AEFBI	0.830953	0.74958	D	0.455707512464366	0.64529	4.709303	0.441788912800956	0.64189	4.668694	0.999999999224715	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.67	4.67	0.58089	9.257000	0.94725	5.644000	0.49159	0.676000	0.76740	1.000000	0.71638	0.996000	0.32793	0.054000	0.15518	0.0:0.0:1.0:0.0	16.550	0.84320	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	858.98	34	chr9	137478118	.	G	A	858.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.79;DP=805;ExcessHet=0.0000;FS=1.672;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.77;ReadPosRankSum=1.62;SOR=0.928	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr9	137577597	137577597	T	C	exonic	DPH7	.	nonsynonymous SNV	DPH7:NM_001346370:exon2:c.A160G:p.M54V	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.0	B	0.0	B	0.001	N	1.000	N	0.345	N	2.79	T	-0.993	T	0.016	T	0.043	-0.404	2.109	-2.22	-0.033	-0.753	2.988	0.002	0.00388408474436	.	.	0.0002	0	8.654e-05	0	0	1.503e-05	0.0033	0.0011	0.0001488	23	154602	rs755455556	8.145e-05	8.14e-05	2.451e-05	0.0001	0.0013	6.938e-05	6.49e-05	0.0011	0.0010	2.989e-05	0	0	0	0	0.0003	0	4.97e-05	0.0013	6.567e-05	6.562e-05	2.57e-05	0.0001	0.0019	3.515e-05	2.615e-05	0.0010	0.0007	2.407e-05	0	0	0	0	0	0	0	0	0.0019	0.485	0.08115	T	0.527	0.10209	T	0.0	0.02946	B	0.0	0.01387	B	0.001297	0.00765	N	3.790310	1	0.08975	N	0.205	0.09354	N	2.79	0.11189	T	-0.04	0.07590	N	0.033	0.00882	-0.9927	0.31906	T	0.016	0.06473	T	10	0.011421859	0.00250	T	0.003884	0.09117	T	0.002	0.00045	0.23	0.15705	0.0920862733494	0.08535	0.20981819397675333	0.20897	0.115811649598	0.13064	0.381251037121	0.22433	T	0.024727	0.18628	T	-0.718856	0.00028	T	-0.840742	0.01087	T	0.0368303237056353	0.03126	T	0.278472	0.04815	T	0.038681377	0.05198	0.052242592	0.08568	0.038681377	0.05198	0.052242592	0.08567	-2.178	0.03935	T	.	.	0.069	0.03093	B	.	.	-0.053892	0.03926	0.869	0.4770452445086677	0.03922	0.02666	0.07285	N	AEFDGBCI	0.036783	0.04956	N	-1.42696060417989	0.02404	0.1061179	-1.45435741882538	0.02731	0.1261373	0.999992691112703	0.74766	0.542737	0.22433	0	0.587265	0.34161	0	0.685571	0.62057	0	0.627883	0.49187	0	.	.	4.42	-2.22	0.06560	-0.631000	0.05593	0.065000	0.14184	-0.185000	0.09859	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.1061:0.4471:0.1837:0.2631	2.988	0.05610	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	846.98	33	chr9	137577597	.	T	C	846.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.319;DP=766;ExcessHet=0.0000;FS=5.193;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=0.665;SOR=0.264	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr9	137814492	137814492	G	A	exonic	EHMT1	.	nonsynonymous SNV	EHMT1:NM_001354263:exon22:c.G3221A:p.R1074H	Kleefstra syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	835982	Kleefstra_syndrome_1	MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.984	D	0.584	P	0.000	D	1.000	D	1.975	M	-1.05	T	0.013	D	0.462	T	0.46	4.545	24.6	4.44	2.014	7.812	17.052	0.683	0.228153096258	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1274172181	2.749e-06	4.104e-06	1.368e-06	4.142e-06	2.987e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	2.987e-05	0	0	0	2.134e-05	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.46910	D	0.069	0.43913	T	0.984	0.60733	D	0.584	0.50293	P	0.000000	0.84330	D	0.048691	0.999999	0.58761	D	2.32	0.66415	M	-1.05	0.76690	T	-3.75	0.71157	D	0.545	0.57177	0.013	0.82516	D	0.462	0.79134	T	10	0.72279674	0.73775	D	0.228153	0.88124	D	0.683	0.88396	0.701	0.83777	0.587908032676	0.58465	0.6413039511604204	0.64065	1.94744629028	0.93356	0.738558411598	0.72760	T	0.613366	0.87779	D	0.077798	0.61783	D	-0.126025	0.61305	T	0.986779093742371	0.77411	D	0.978602	0.92442	D	0.7697103	0.82030	0.646241	0.79316	0.7697103	0.82032	0.646241	0.79317	-11.248	0.81001	D	0.4305309797640955	0.51773	0.396	0.59595	A	.;.	.;.	5.789642	0.93562	33	0.99928848113560831	0.99222	0.94398	0.61038	D	AEFDGBCIJ	0.867437	0.78721	D	0.558635340236002	0.70610	5.526792	0.550533214882568	0.71433	5.65435	0.999999973237886	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.44	4.44	0.53164	7.937000	0.87129	11.519000	0.93038	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	17.052	0.86396	994	0.00715	Pre-SET domain|Pre-SET domain|Pre-SET domain;Pre-SET domain|Pre-SET domain|Pre-SET domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	902.98	33	chr9	137814492	.	G	A	902.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.074;DP=876;ExcessHet=0.0000;FS=3.691;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.60;ReadPosRankSum=1.04;SOR=1.099	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	20	0	1	0
chr9	138023404	138023404	-	CCGCAC	exonic	CACNA1B	.	nonframeshift insertion	CACNA1B:NM_000718:exon19:c.2661_2662insCCGCAC:p.H889_R890insPH	.	.	.	.	.	.	.	.	.	.	.	1636168	CACNA1B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1200621914	0.0001	0.0001	0.0001	0.0001	0.0050	0.0001	9.912e-05	0.0043	0.0040	0.0050	0.0003	0	0	0	0.0003	7.113e-06	0.0004	0	0.0013	0.0013	0.0013	0.0013	0.0046	0.0012	0.0011	0.0040	0.0038	0.0046	0	0.0004	0	0	0	0	2.962e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	552.78	14	chr9	138023404	.	G	GCCGCAC	552.78	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.82;DP=419;ExcessHet=0.0000;FS=6.701;InbreedingCoeff=-0.1841;MLEAC=2;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=23.03;ReadPosRankSum=-2.060e-01;SOR=1.108	GT:AD:DP:GQ:PL	./.:17,0:17:0:0,0,106	5	0	1	15
chr9	138023729	138023729	A	0	exonic	CACNA1B	.	.	.	.	.	350	755	29	2	386	419	0.0213869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1289.72	63	chr9	138023729	.	A	G,*	1289.72	.	AC=2,13;AF=0.048,0.310;AN=42;BaseQRankSum=-4.590e-01;DP=1294;ExcessHet=8.1482;FS=0.000;InbreedingCoeff=-0.3481;MLEAC=2,13;MLEAF=0.048,0.310;MQ=60.00;MQRankSum=0.00;QD=1.32;ReadPosRankSum=2.42;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:27,0,26:53:99:.:.:1011,1092,2160,0,1068,989	7	0	2	0
chr10	366331	366331	C	T	exonic	DIP2C	.	nonsynonymous SNV	DIP2C:NM_014974:exon19:c.G2212A:p.V738I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.002	B	0.008	B	0.000	N	1.000	N	1.355	L	2.85	T	-1.022	T	0.073	T	0.118	-0.007	3.976	3.26	0.522	0.935	2.919	0.042	0.00325468096466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.18498	T	0.216	0.26226	T	0.0	0.02946	B	0.005	0.11217	B	0.000292	0.46274	N	0.190436	1	0.08975	N	1.5	0.37844	L	2.85	0.10578	T	-0.32	0.12283	N	0.15	0.20660	-1.0223	0.22965	T	0.073	0.29578	T	10	0.14847383	0.28116	T	0.003255	0.07177	T	0.042	0.11227	0.6	0.73105	0.043077524339	0.03247	0.30096386499836275	0.30009	0.621333727136	0.56425	0.270182400942	0.06164	T	0.048516	0.28041	T	-0.302877	0.08391	T	-0.672839	0.07428	T	0.163904160261154	0.18155	T	0.818018	0.49813	T	0.03124962	0.02931	0.032308802	0.01945	0.03124962	0.02930	0.032308802	0.01945	-3.301	0.13750	T	.	.	0.066	0.03060	B	.;.;.	.;.;.	0.637825	0.10061	6.812	0.91588385084858126	0.20870	0.09927	0.15570	N	AEFDBI	0.041536	0.06327	N	-0.716011549394585	0.15571	0.7859205	-0.714721999282696	0.16594	0.8786007	0.0590110320152052	0.15147	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.35	3.26	0.36471	0.946000	0.28667	1.145000	0.24435	0.599000	0.40250	0.310000	0.25414	0.410000	0.24754	0.118000	0.19084	0.0:0.3313:0.2424:0.4264	2.919	0.05410	657	0.62240	AMP-dependent synthetase/ligase|Dip2-like domain;AMP-dependent synthetase/ligase|Dip2-like domain;AMP-dependent synthetase/ligase|Dip2-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2465.98	34	chr10	366331	.	C	T	2465.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.258;DP=901;ExcessHet=0.0000;FS=4.649;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=-1.076e+00;SOR=0.754	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1297	20	0	1	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.034	B	0.012	B	0.000	D	1.000	D	0.69	N	1.42	T	-1.076	T	0.048	T	0.262	1.919	12.37	5.57	2.133	5.075	10.134	0.023	0.00390173934956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.094	0.39645	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.84330	D	0.124272	0.999909	0.50806	D	1.83	0.48079	L	1.42	0.33189	T	-1.32	0.32991	N	0.378	0.42149	-1.0760	0.08144	T	0.048	0.20553	T	10	0.09752631	0.17572	T	0.003902	0.09180	T	0.023	0.04649	0.235	0.16457	0.189391138174	0.18552	0.5409899109821052	0.54023	0.296725836107	0.32059	0.615102767944	0.55037	T	0.072244	0.34406	T	-0.147588	0.28690	T	-0.449777	0.27720	T	0.606496572494507	0.36659	D	0.835216	0.50504	T	0.1529754	0.34699	0.12790082	0.30779	0.1529754	0.34699	0.12790082	0.30779	-5.445	0.41350	T	.	.	0.098	0.19679	B	.;.	.;.	3.996231	0.58848	24.0	0.98635954636874601	0.43987	0.96367	0.68792	D	AEFDBI	0.396291	0.47282	N	-0.0822847856859552	0.38168	2.231465	0.131294021325016	0.46157	2.866445	0.999198281609489	0.38711	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.068000	0.64193	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0743:0.0:0.9257	10.134	0.41870	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	4683.86	92	chr10	825249	.	T	C	4683.86	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-3.067e+00;DP=2503;ExcessHet=20.9642;FS=199.373;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=2.22;ReadPosRankSum=2.13;SOR=13.018	GT:AD:DP:GQ:PL	0/1:87,57:144:99:547,0,1089	5	0	16	0
chr10	836416	836416	G	T	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon8:c.C737A:p.S246Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.992	D	0.869	P	0.000	D	1.000	D	2.175	M	1.17	T	-0.742	T	0.220	T	0.533	2.954	15.85	5.96	2.832	5.099	20.422	0.276	0.026229574271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	0.992	0.64738	D	0.869	0.61749	P	0.000089	0.51296	D	0.235594	0.99997	0.53665	D	1.795	0.47270	L	1.17	0.37910	T	-4.06	0.74582	D	0.373	0.41459	-0.7419	0.58355	T	0.220	0.58319	T	10	0.36249754	0.52844	T	0.02623	0.49152	D	0.276	0.59253	0.348	0.34436	0.289831133145	0.28582	0.6335953942830321	0.63293	2.09917820347	0.94799	0.619366168976	0.55640	T	0.372925	0.73702	T	-0.0177611	0.49171	T	-0.263289	0.48495	T	0.995297014713287	0.87169	D	0.958704	0.84427	D	0.417875	0.61950	0.5356424	0.73167	0.417875	0.61951	0.5356424	0.73167	-11.582	0.82755	D	.	.	0.389	0.62202	A	.;.	.;.	4.312148	0.65933	24.9	0.99549797110929206	0.71086	0.99275	0.93809	D	AEFBI	0.637656	0.61636	D	0.678852924184455	0.78246	6.833197	0.650091866391282	0.78616	6.912506	0.99972368530024	0.42220	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.96	5.96	0.96695	5.257000	0.65294	9.938000	0.82634	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.117000	0.19042	0.0:0.0:1.0:0.0	20.422	0.99051	759	0.50631	LARP5, RNA recognition motif;LARP5, RNA recognition motif	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1106.98	35	chr10	836416	.	G	T	1106.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.491e+00;DP=794;ExcessHet=0.0000;FS=0.727;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.54;ReadPosRankSum=-1.866e+00;SOR=0.597	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1148	20	0	1	0
chr10	884449	884449	G	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon3:c.C139G:p.Q47E	.	.	.	.	.	.	.	.	.	0.0016	0.108	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.167	B	0.024	B	0.063	N	0.955	N	0.345	N	1.58	T	-1.066	T	0.042	T	0.506	0.266	5.436	4.12	2.596	3.560	12.181	0.096	0.00274479054501	.	.	5.798e-05	0	0	0	0	0	0	0.0004	5.17e-05	8	154602	rs763541857	2.918e-05	2.874e-05	9.699e-06	4.879e-05	0.0005	2.185e-05	1.938e-05	0.0004	0.0003	0	0	0	0	0	0	0	0	0.0005	1.315e-05	1.314e-05	0	2.691e-05	0.0004	2.18e-06	8.2e-07	7.29e-05	3.029e-05	0	0	0	0	0	0	0	0	0	0.0004	0.057	0.55530	T	0.925	0.03170	T	0.167	0.28604	B	0.024	0.20255	B	0.062524	0.22091	N	0.499928	0.954909	0.26353	N	2.125	0.59049	M	1.58	0.29085	T	-0.75	0.39503	N	0.308	0.34874	-1.0663	0.10246	T	0.042	0.18118	T	10	0.0711475	0.10449	T	0.002745	0.05665	T	0.096	0.27654	0.134	0.03833	0.372852800391	0.36900	0.12760135873839476	0.12686	0.120734834091	0.13598	0.394649773836	0.24322	T	0.02138	0.17437	T	-0.305495	0.08152	T	-0.354633	0.38673	T	0.0688165904033592	0.08484	T	0.772623	0.40374	T	0.11096976	0.26227	0.16299783	0.37834	0.11096976	0.26226	0.16299783	0.37834	-3.038	0.10596	T	.	.	0.064	0.09627	B	.;.;.;.	.;.;.;.	2.673036	0.34853	19.74	0.67026562325602368	0.08232	0.86845	0.46216	D	AEFBI	0.326749	0.42792	N	-0.105624539472162	0.37146	2.157048	0.0613129584681961	0.42622	2.581224	0.999223041160278	0.38808	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.12	4.12	0.47504	3.582000	0.53665	8.923000	0.78398	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	12.181	0.53519	561	0.71236	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	915.98	92	chr10	884449	.	G	C	915.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.679e+00;DP=788;ExcessHet=0.0000;FS=2.697;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.96;ReadPosRankSum=0.102;SOR=0.911	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1229	20	0	1	0
chr10	885675	885675	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon2:c.A47G:p.Q16R	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.993	D	0.000	D	1.000	D	1.04	L	1.16	T	-0.861	T	0.154	T	0.534	4.670	25.8	5.37	2.019	6.520	14.369	0.216	0.0144890179907	.	.	2.472e-05	0	0	0	0	2.999e-05	0.0011	0	1.94e-05	3	154602	rs753623530	1.231e-05	1.231e-05	4.084e-06	2.063e-05	0.0003	7.7e-06	6.35e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.094e-06	6.623e-05	3.478e-05	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.39	0.68882	M	1.16	0.38073	T	-1.4	0.74051	N	0.701	0.70878	-0.8611	0.51184	T	0.154	0.48498	T	10	0.2988422	0.47439	T	0.014489	0.34641	T	0.216	0.50959	0.215	0.13498	0.396617757867	0.39272	0.35269387461357443	0.35183	0.528193269537	0.50417	0.509938538074	0.40213	T	0.04208	0.36161	T	-0.0676522	0.41701	T	-0.2381	0.50983	T	0.866982877254486	0.51702	D	0.850115	0.54290	D	0.49682346	0.66908	0.46485326	0.68941	0.49682346	0.66909	0.46485326	0.68941	-4.609	0.32285	T	.	.	0.155	0.55876	B	.;.;.;.	.;.;.;.	4.665753	0.74522	26.2	0.99832789452148452	0.91456	0.97867	0.77726	D	AEFBI	0.598095	0.59163	D	0.620029479594246	0.74443	6.13353	0.635600017335516	0.77543	6.699581	0.999975257675431	0.50053	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.37	5.37	0.76949	6.702000	0.74451	7.915000	0.74225	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:0.0:1.0	14.369	0.66390	564	0.70960	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1866.98	34	chr10	885675	.	T	C	1866.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.055e+00;DP=861;ExcessHet=0.0000;FS=1.259;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=-1.302e+00;SOR=0.572	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1369	20	0	1	0
chr10	1020847	1020847	G	-	exonic	IDI2	.	frameshift deletion	IDI2:NM_033261:exon4:c.286delC:p.L96Wfs*9,	.	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.000798722	0.0010	0.0002	0.0024	0	0.0003	0.0011	0.0022	0.0009	0.0001537	4	26028	rs55836842	0.0009	0.0009	0.0008	0.0009	0.0027	0.0008	0.0008	0.0023	0.0021	0.0003	0.0027	0	0	0.0002	0.0009	0.0009	0.0007	0.0008	0.0009	0.0009	0.0008	0.0009	0.0035	0.0007	0.0007	0.0028	0.0025	0.0001	0	0.0035	0	0	0.0003	0	0.0009	0.0014	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1816.94	38	chr10	1020846	.	AG	A	1816.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.687;DP=822;ExcessHet=0.0000;FS=3.518;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.14;ReadPosRankSum=-1.745e+00;SOR=0.584	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1163	20	0	1	0
chr10	1042681	1042681	C	A	exonic	IDI1	.	nonsynonymous SNV	IDI1:NM_001317957:exon3:c.G230T:p.R77L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.999	D	0.000	D	1.000	D	2.455	M	.	.	-0.031	T	0.451	T	0.949	2.076	12.90	4.5	2.172	1.666	17.565	0.438	0.0231426069282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.47320	T	0.225	0.25514	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.08	0.57402	M	.	.	.	-5.13	0.89833	D	0.748	0.74735	-0.0311	0.81607	T	0.451	0.78497	T	9	0.6410034	0.69056	D	0.023143	0.46083	T	0.438	0.74235	0.546	0.66015	0.485776496936	0.48210	0.8143534831201408	0.81391	1.71623382196	0.90501	0.551358222961	0.46049	T	0.352491	0.71992	T	0.362202	0.87422	D	0.282501	0.87259	D	0.982598006725311	0.74586	D	0.966103	0.87589	D	0.8834416	0.89952	0.4324163	0.66828	0.8834416	0.89954	0.4324163	0.66828	-9.664	0.84905	D	.	.	0.165	0.40180	B	.;.;.	.;.;.	4.323204	0.66182	24.9	0.98560986662540329	0.42973	0.87043	0.46466	D	AEFDBI	0.541932	0.55788	D	0.316202522074733	0.56978	3.863778	0.156917150034923	0.47509	2.980108	0.999999999999971	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.5	4.5	0.54382	1.331000	0.33398	7.612000	0.61951	0.530000	0.24713	0.272000	0.25065	1.000000	0.68203	0.045000	0.14751	0.0:1.0:0.0:0.0	17.565	0.87814	624	0.65661	NUDIX hydrolase domain|NUDIX hydrolase domain;.;NUDIX hydrolase domain|NUDIX hydrolase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	529.98	36	chr10	1042681	.	C	A	529.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.821;DP=759;ExcessHet=0.0000;FS=0.952;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.91;ReadPosRankSum=0.927;SOR=0.808	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1090	20	0	1	0
chr10	1103821	1103821	G	A	exonic	WDR37	.	nonsynonymous SNV	WDR37:NM_014023:exon10:c.G946A:p.V316I,	.	.	.	.	.	.	.	.	.	.	.	2399744	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.58	T	0.999	D	0.995	D	0.000	D	1.000	D	-0.115	N	0.15	T	-0.798	T	0.202	T	0.401	2.660	14.85	5.72	2.694	7.503	19.883	0.259	0.0174932790696	.	.	8.444e-06	0	0	0	0	1.534e-05	0	0	1.29e-05	2	154602	rs567216295	2.6e-05	2.599e-05	2.45e-05	2.75e-05	7.557e-05	1.932e-05	1.692e-05	2.116e-05	1.862e-05	0	0	3.826e-05	7.557e-05	0	0	2.968e-05	1.656e-05	0	5.256e-05	5.253e-05	3.854e-05	6.724e-05	0.0001	2.557e-05	1.83e-05	5.842e-05	4.239e-05	0	0	0	0	0	0	0	0.0001	0	0	0.265	0.16305	T	0.361	0.16914	T	0.951	0.53992	P	0.32	0.41729	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.09	0.27330	L	0.15	0.60734	T	-0.06	0.07882	N	0.423	0.46274	-0.7984	0.55238	T	0.202	0.55947	T	10	0.31370127	0.48819	T	0.017493	0.39209	T	0.259	0.57090	0.623	0.75803	0.176862962021	0.17281	0.17193898065646135	0.17113	0.669303631781	0.59337	0.726051092148	0.70929	T	0.042676	0.26258	T	-0.17225	0.24895	T	-0.2595	0.48873	T	0.225308089998112	0.21726	T	0.950305	0.82493	D	0.067631386	0.14664	0.0893657	0.20894	0.067631386	0.14664	0.0893657	0.20893	-4.354	0.28927	T	0.08334842986594895	0.04492	0.079	0.25527	B	.;.;.	.;.;.	2.706108	0.35358	19.88	0.99373286737905908	0.61541	0.98255	0.80978	D	AEFDBI	0.767003	0.70300	D	0.201807255174749	0.51287	3.311125	0.265368415511542	0.53530	3.521336	0.999999999912492	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.72	5.72	0.89380	7.626000	0.82344	7.552000	0.60294	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.173000	0.21076	0.0:0.0:1.0:0.0	19.883	0.96905	687	0.59234	WD40-repeat-containing domain;.;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1058.98	34	chr10	1103821	.	G	A	1058.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.800e-01;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.70;ReadPosRankSum=0.763;SOR=0.668	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1221	20	0	1	0
chr10	1233730	1233730	C	T	exonic	ADARB2	.	nonsynonymous SNV	ADARB2:NM_018702:exon6:c.G1477A:p.A493T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	3.19	M	-3.89	D	1.083	D	0.943	D	0.723	4.306	22.6	5.54	2.592	7.699	19.473	0.916	0.511058520118	7.7e-05	.	0.0001	0	0	0	0	0.0002	0.0022	0.0003	0.0001164	18	154602	rs200268465	8.005e-05	8.209e-05	7.761e-05	8.252e-05	0.0003	6.802e-05	6.356e-05	0.0002	0.0002	0.0002	2.238e-05	0	2.52e-05	0	0	7.015e-05	6.625e-05	0.0003	0.0001	0.0001	0.0001	8.101e-05	0.0002	7.111e-05	5.764e-05	9.057e-05	7.019e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.052067	1	0.81001	D	3.57	0.93460	H	-3.89	0.95984	D	-3.56	0.68880	D	0.81	0.80572	1.083	0.98984	D	0.943	0.98132	D	10	0.95369303	0.94717	D	0.511059	0.95302	D	0.916	0.97814	.	.	0.728025256924	0.72561	0.7511835446714318	0.75065	0.895387356478	0.70438	0.574802398682	0.49355	T	0.821319	0.95634	D	0.183068	0.72324	D	0.304623	0.88409	D	0.91094845533371	0.56634	D	0.999656	0.99877	D	0.77695066	0.82467	0.75624996	0.85595	0.77695066	0.82469	0.75624996	0.85596	-10.537	0.77060	D	.	.	0.597	0.68772	P	.	.	4.721989	0.75965	26.4	0.99920497933077657	0.98721	0.98898	0.88334	D	AEFDBI	0.939028	0.93906	D	0.815273719184819	0.87053	9.086761	0.714655229954301	0.83491	8.035636	0.999999999999601	0.74766	0.653281	0.48532	0	0.633656	0.55848	0	0.675528	0.61593	0	0.613276	0.41899	0	.	.	5.54	5.54	0.82907	7.693000	0.83472	7.632000	0.62779	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.166000	0.20848	0.0:1.0:0.0:0.0	19.473	0.94963	814	0.42100	Adenosine deaminase/editase|Adenosine deaminase/editase|Adenosine deaminase/editase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1354.98	38	chr10	1233730	.	C	T	1354.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.860;DP=880;ExcessHet=0.0000;FS=1.461;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=-2.243e+00;SOR=0.840	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1194	20	0	1	0
chr10	1363062	1363062	G	T	exonic	ADARB2	.	nonsynonymous SNV	ADARB2:NM_018702:exon3:c.C1043A:p.A348E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.203	B	0.081	B	0.361	N	1.000	N	-0.345	N	1.99	T	-1.042	T	0.017	T	0.2	-2.052	0.006	-2.81	-0.831	0.214	1.909	0.031	0.00908659791641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.472e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.203	0.29776	B	0.081	0.28987	B	0.361257	0.04305	N	1.385730	1	0.08975	N	1.24	0.30952	L	1.99	0.21666	T	-0.03	0.07444	N	0.125	0.11769	-1.0421	0.16681	T	0.017	0.06807	T	10	0.035996705	0.01876	T	0.009087	0.23917	T	0.031	0.07369	0.457	0.52265	0.123314135267	0.11883	0.2679764123111616	0.26710	1.07880436334	0.77074	0.267588078976	0.05829	T	0.00827	0.07601	T	-0.278956	0.10777	T	-0.638477	0.09780	T	0.0858684304873363	0.10720	T	0.289971	0.05268	T	0.041354667	0.06077	0.08967596	0.20984	0.041354667	0.06076	0.08967596	0.20983	-8.177	0.62270	D	.	.	0.119	0.24566	B	.	.	-0.207309	0.03053	0.472	0.54965077188408107	0.05244	0.06707	0.12728	N	AEFDBCI	0.087658	0.17773	N	-1.50619947224506	0.01808	0.07927274	-1.51218697588789	0.02250	0.1031914	0.108759266137914	0.16590	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.22	-2.81	0.05459	0.383000	0.20381	-0.373000	0.09593	-0.327000	0.05804	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4882:0.126:0.2624:0.1233	1.909	0.03084	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2290.98	40	chr10	1363062	.	G	T	2290.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=922;ExcessHet=0.0000;FS=0.600;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.41;ReadPosRankSum=-1.026e+00;SOR=0.615	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1182	20	0	1	0
chr10	3099311	3099311	G	A	exonic	PFKP	.	nonsynonymous SNV	PFKP:NM_001323067:exon3:c.G142A:p.A48T	.	.	439	1080	2	1	0	4	0.00184843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.188	B	0.067	B	0.726	N	1.000	D	-0.29	N	-1.32	T	-0.675	T	0.219	T	0.216	1.976	12.56	4.65	1.317	5.008	16.368	0.282	0.041100556954	0.0002	.	0.0001	0	0	0	0	0.0002	0	6.056e-05	0.0001035	16	154602	rs143287169	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	9.567e-05	0.0001	0.0001	8.962e-05	4.472e-05	0	0.0001	0	0	0.0001	0.0001	3.478e-05	0.0001	0.0002	0.0001	0.0001	0.0002	9.74e-05	8.255e-05	9.048e-05	7.012e-05	0.0001	0	0.0002	0	0.0002	0	0	0.0002	0.0005	0.0002	0.123	0.33418	T	0.412	0.34959	T	0.188	0.29318	B	0.067	0.27542	B	0.726351	0.06343	N	1.126440	0.999846	0.20887	N	.	.	.	-1.32	0.79761	T	-0.16	0.11913	N	0.32	0.36043	-0.6749	0.61607	T	0.219	0.58150	T	10	0.28831026	0.46413	T	0.041101	0.59740	D	0.282	0.59981	.	.	0.828821459956	0.82720	0.5304562676976728	0.52969	0.190035660652	0.21322	0.271592199802	0.06350	T	0.229979	0.59593	T	-0.251741	0.13885	T	-0.293409	0.45418	T	0.0679797753691673	0.08366	T	0.937806	0.76886	D	0.30244344	0.53123	0.12610473	0.30376	0.30244344	0.53123	0.12610473	0.30376	-3.058	0.10820	T	.	.	0.066	0.02118	B	.;.;.	.;.;.	2.272477	0.29051	18.00	0.98847148522845341	0.47220	0.92202	0.55173	D	AEFDBHCIJ	0.460408	0.51060	N	-0.329758056661201	0.28023	1.542241	-0.240059820402473	0.30115	1.692886	0.999999999957872	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.57	4.65	0.57626	5.078000	0.64255	2.102000	0.30609	0.676000	0.76740	1.000000	0.71638	0.021000	0.20819	0.008000	0.08271	0.0:0.132:0.868:0.0	16.368	0.83177	988	0.01987	Phosphofructokinase domain;Phosphofructokinase domain;Phosphofructokinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	891.98	34	chr10	3099311	.	G	A	891.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.817;DP=798;ExcessHet=0.0000;FS=0.784;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.01;ReadPosRankSum=-6.090e-01;SOR=0.788	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1237	20	0	1	0
chr10	3103799	3103799	G	A	exonic	PFKP	.	nonsynonymous SNV	PFKP:NM_001323067:exon5:c.G394A:p.V132M	.	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.209	B	0.067	B	0.075	N	1.000	N	1.175	L	-1.06	T	-0.742	T	0.299	T	0.371	1.734	11.76	-1.05	-0.325	2.723	9.912	0.269	0.0253300096623	0.0002	0.000998403	0.0007	9.651e-05	0.0002	0	0	0.0003	0.0044	0.0032	0.0006015	93	154602	rs146112401	0.0004	0.0004	0.0003	0.0005	0.0121	0.0004	0.0004	0.0099	0.0090	0.0002	0.0003	0.0002	5.038e-05	0	0.0121	0.0002	0.0010	0.0027	0.0003	0.0004	0.0003	0.0004	0.0046	0.0003	0.0002	0.0031	0.0026	4.811e-05	0	0.0003	0	0	0	0.0102	0.0003	0.0005	0.0046	0.028	0.46129	D	0.109	0.39799	T	0.056	0.22806	B	0.042	0.24114	B	0.075499	0.21220	N	0.527971	1	0.08975	N	0.825	0.20901	L	-1.42	0.80815	T	-0.74	0.20791	N	0.43	0.46928	-0.7415	0.58376	T	0.299	0.67055	T	10	0.010099262	0.00226	T	0.02533	0.48303	D	0.269	0.58381	.	.	0.551220473365	0.54778	0.7781756260236526	0.77767	0.204107414628	0.22826	0.375633001328	0.21637	T	0.345942	0.71426	T	-0.311447	0.07621	T	-0.223827	0.52367	T	0.0210711527292797	0.00809	T	0.878012	0.59262	D	0.116128534	0.27394	0.11530808	0.27836	0.116128534	0.27394	0.11530808	0.27835	-7.286	0.63075	T	.	.	0.087	0.23605	B	.;.;.	.;.;.	2.305516	0.29507	18.14	0.94635881000733479	0.25227	0.72336	0.35409	D	AEFDBHCI	0.220918	0.34561	N	-0.85410077104252	0.11949	0.5795959	-0.892794292565218	0.12264	0.6298464	0.999999064797912	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.591603	0.36755	0	.	.	4.32	-1.05	0.09523	2.819000	0.47749	0.168000	0.15485	-0.169000	0.11342	0.982000	0.35529	0.000000	0.08366	0.070000	0.16646	0.5331:0.0:0.4669:0.0	9.912	0.40584	982	0.03397	Phosphofructokinase domain;.;Phosphofructokinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2890.98	90	chr10	3103799	.	G	A	2890.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.070e-01;DP=1881;ExcessHet=0.0000;FS=2.060;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.91;ReadPosRankSum=-1.498e+00;SOR=0.831	GT:AD:DP:GQ:PL	0/0:106,0:106:99:0,120,1800	20	0	1	0
chr10	3119938	3119938	A	G	exonic	PFKP	.	nonsynonymous SNV	PFKP:NM_001323074:exon11:c.A929G:p.E310G	.	.	428	1090	4	0	0	4	0.0018315	.	.	701318	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.004	B	0.033	B	0.005	N	1.000	D	0.98	L	-1.15	T	-0.658	T	0.242	T	0.339	3.047	16.17	4.54	1.048	3.724	13.103	0.333	0.0322009805631	0.0058	0.00259585	0.0053	0.0012	0.0008	0	0.0036	0.0079	0.0022	0.0043	0.0052845	817	154602	rs41288721	0.0071	0.0071	0.0070	0.0071	0.0083	0.0070	0.0069	0.0082	0.0081	0.0009	0.0014	0.0039	0	0.0035	0.0012	0.0083	0.0062	0.0037	0.0048	0.0048	0.0050	0.0045	0.0076	0.0045	0.0044	0.0071	0.0068	0.0011	0.0428	0.0035	0.0049	0	0.0032	0	0.0076	0.0033	0.0033	0.009	0.65419	D	0.04	0.50809	D	0.003	0.11197	B	0.02	0.19048	B	0.004544	0.33627	N	0.340065	0.811297	0.34645	D	1.95	0.52479	M	-1.15	0.77964	T	-3.69	0.70432	D	0.397	0.44187	-0.6577	0.62377	T	0.242	0.61083	T	10	0.008535087	0.00193	T	0.032201	0.54088	D	0.333	0.65522	.	.	0.672392681923	0.66962	0.7627020923406801	0.76218	0.269737973459	0.29498	0.287244170904	0.08522	T	0.697751	0.91269	D	-0.308868	0.07848	T	-0.211317	0.53569	T	0.0274130518947856	0.01603	T	0.954805	0.82790	D	0.56875163	0.70992	0.39064917	0.63855	0.56875163	0.70993	0.39064917	0.63855	-8.673	0.68453	D	.	.	0.088	0.17402	B	.;.	.;.	3.846597	0.55700	23.6	0.99809054772278494	0.89353	0.86471	0.45758	D	AEFBCI	0.453575	0.50665	N	-0.140759923701473	0.35630	2.048945	0.0306633717489943	0.41145	2.467178	0.999449958782421	0.39736	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.7	4.54	0.55220	3.766000	0.54991	5.888000	0.50725	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.8661:0.1339:0.0:0.0	13.103	0.58646	982	0.03397	Phosphofructokinase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1070.98	45	chr10	3119938	.	A	G	1070.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.930e-01;DP=908;ExcessHet=0.0000;FS=0.727;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.30;ReadPosRankSum=1.07;SOR=0.786	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	20	0	1	0
chr10	3135825	3135825	C	A	exonic	PFKP	.	nonsynonymous SNV	PFKP:NM_001323070:exon15:c.C1411A:p.Q471K	.	.	434	1047	39	2	0	43	0.0201217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.001	B	0.001	B	0.002	N	0.979	N	0.345	N	-0.97	T	-1.016	T	0.025	T	0.271	1.392	10.59	0.742	0.142	2.545	7.799	0.020	.	0.0016	0.00638978	0.0034	0.0005	0.0045	0	0	0.0019	0.0044	0.0136	0.0032665	505	154602	rs1804254	0.0023	0.0023	0.0018	0.0027	0.0139	0.0022	0.0022	0.0133	0.0130	0.0003	0.0046	0.0020	0	0.0002	0.0099	0.0014	0.0032	0.0139	0.0023	0.0023	0.0021	0.0026	0.0135	0.0021	0.0020	0.0109	0.0099	0.0005	0	0.0078	0.0014	0.0002	0	0.0102	0.0019	0.0076	0.0135	0.281	0.18691	T	0.279	0.21745	T	0.0	0.02946	B	0.0	0.01387	B	0.001530	0.38731	N	0.282681	0.97893	0.25216	N	1.56	0.39490	L	-1.28	0.79475	T	-1.09	0.38151	N	0.214	0.31478	-1.0157	0.25110	T	0.025	0.10866	T	10	0.007251948	0.00165	T	.	.	.	0.169	0.43123	.	.	0.617109349803	0.61401	0.5715476712037727	0.57082	0.245553725906	0.27076	0.319565057755	0.13355	T	0.189656	0.54395	T	-0.397201	0.02415	T	-0.331652	0.41285	T	0.00488657485751936	0.00052	T	0.645735	0.26930	T	0.1270293	0.29737	0.08154157	0.18539	0.1270293	0.29737	0.08154157	0.18539	-8.362	0.64852	D	.	.	0.089	0.12181	B	.;.;.	.;.;.	1.951134	0.24781	16.52	0.89643019086762443	0.18974	0.76491	0.37519	D	AEFBCI	0.273064	0.38855	N	-0.549113492516175	0.20512	1.081822	-0.551418355968868	0.20768	1.120472	0.998767270567485	0.37623	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.92	0.742	0.17490	2.628000	0.46143	0.622000	0.20140	-0.153000	0.12021	0.999000	0.42656	0.005000	0.19230	0.465000	0.28230	0.1415:0.2524:0.6061:0.0	7.799	0.28328	976	0.04745	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	2735.66	34	chr10	3135825	.	C	A	2735.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.82;DP=817;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=19.27;ReadPosRankSum=-1.053e+00;SOR=0.669	GT:AD:DP:GQ:PL	0/1:43,44:87:99:1091,0,926	19	1	1	0
chr10	3138965	3138965	G	C	exonic	PITRM1	.	nonsynonymous SNV	PITRM1:NM_001242309:exon22:c.C2562G:p.I854M	.	.	436	1051	34	1	0	36	0.0168382	.	.	701321	PITRM1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.29	T	0.996	D	0.986	D	0.000	D	0.983	D	2.375	M	2.78	T	-0.903	T	0.030	T	0.639	3.068	16.24	-10.1	-2.285	-1.357	3.335	0.283	.	0.0072	0.00698882	0.0076	0.0018	0.0042	0.0092	0.0005	0.0076	0.0167	0.0148	0.0076066	1176	154602	rs2279219	0.0085	0.0085	0.0082	0.0088	0.0239	0.0084	0.0083	0.0207	0.0194	0.0017	0.0039	0.0188	0.0107	0.0012	0.0239	0.0083	0.0096	0.0149	0.0055	0.0055	0.0059	0.0051	0.0133	0.0052	0.0051	0.0106	0.0097	0.0013	0	0.0037	0.0153	0.0106	0.0011	0.0340	0.0076	0.0066	0.0133	0.002	0.78490	D	0.006	0.76473	D	0.996	0.68779	D	0.986	0.76916	D	0.000000	0.84330	D	0.048486	0.982543	0.39905	D	3.15	0.88382	M	2.78	0.11298	T	-2.06	0.50502	N	0.733	0.73375	-0.9028	0.47694	T	0.030	0.13023	T	10	0.0075713396	0.00172	T	.	.	.	0.283	0.60100	.	.	0.292787519742	0.28880	0.7876777912847144	0.78719	0.339281541877	0.35884	0.36477342248	0.20078	T	0.03237	0.22457	T	-0.406594	0.02095	T	-0.344497	0.39833	T	0.0919633649975755	0.11448	T	0.928507	0.76748	D	0.5679132	0.70946	0.32878715	0.58764	0.5679132	0.70947	0.32878715	0.58764	-8.724	0.65903	D	.	.	0.099	0.43815	B	.;.;.;.;.	.;.;.;.;.	-0.572070	0.01650	0.116	0.99290081191233992	0.58219	0.46315	0.27733	N	AEFGBCI	0.232223	0.35533	N	-0.67583953480814	0.16711	0.8538296	-0.985766165152834	0.10104	0.5068272	0.99999997108151	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.54	-10.1	0.00330	-1.340000	0.02756	-3.074000	0.03084	-0.158000	0.11653	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.2486:0.1044:0.4286:0.2184	3.335	0.06681	970	0.06235	Peptidase M16, C-terminal;.;.;Peptidase M16, C-terminal;Peptidase M16, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1974.98	37	chr10	3138965	.	G	C	1974.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=1030;ExcessHet=0.0000;FS=2.774;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=0.744;SOR=0.503	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	20	0	1	0
chr10	3781889	3781889	G	A	exonic	KLF6	.	nonsynonymous SNV	KLF6:NM_001160124:exon2:c.C428T:p.S143F	Gastric cancer, somatic;Prostate cancer, somatic	.	0	1517	5	0	0	5	0.00164528	.	.	138372	not_specified	MedGen:CN169374	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0.11	T	0.999	D	0.952	D	0.000	D	1.000	D	2.24	M	2.7	T	-0.515	T	0.297	T	0.711	2.340	13.78	4.99	2.309	9.719	10.844	0.213	0.0504868570063	.	0.000199681	0.0007	0.0002	0.0003	0	0	2.998e-05	0	0.0045	0.0005692	88	154602	rs200767950	0.0003	0.0003	0.0001	0.0004	0.0046	0.0003	0.0003	0.0043	0.0041	0	0	0	0	0	0.0009	1.799e-06	0.0001	0.0046	0.0001	0.0001	6.422e-05	0.0002	0.0043	9.139e-05	7.696e-05	0.0029	0.0024	0	0	0	0	0	0	0	0	0	0.0043	0.086	0.43708	T	0.222	0.37037	T	0.893	0.77913	P	0.51	0.69102	P	0.000008	0.62929	D	0.113755	0.999989	0.54805	D	2.56	0.74772	M	2.7	0.54149	T	-2.04	0.48020	N	0.712	0.71498	-0.5155	0.68084	T	0.297	0.66849	T	10	0.011963606	0.00259	T	0.050487	0.64262	D	0.213	0.50496	0.358	0.36060	0.701661913143	0.69907	0.5507589038069282	0.55001	2.02998117833	0.94073	0.638320088387	0.58325	T	0.596808	0.87019	D	-0.209945	0.19387	T	-0.0740817	0.65335	T	0.140373133063224	0.16307	T	0.959204	0.84742	D	0.13272555	0.30895	0.111242004	0.26832	0.11950104	0.28137	0.122643195	0.29581	-3.64	0.27881	T	.	.	0.262	0.49816	B	.;.;.	.;.;.	4.316808	0.66033	24.9	0.99643825202737879	0.76819	0.74581	0.36488	D	AEFDBHCI	0.920462	0.89248	D	0.596201280126872	0.72937	5.884995	0.55323879670133	0.71622	5.683083	0.999999999999841	0.74766	0.675202	0.55065	0	0.672317	0.65289	0	0.67197	0.60751	0	0.56214	0.19341	0	.	.	4.99	4.99	0.65942	9.852000	0.98385	11.777000	0.96009	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.127000	0.19450	0.0861:0.0:0.9139:0.0	10.844	0.45940	983	0.02875	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2740.98	34	chr10	3781889	.	G	A	2740.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.960e-01;DP=864;ExcessHet=0.0000;FS=3.485;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.49;ReadPosRankSum=0.240;SOR=0.964	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1222	20	0	1	0
chr10	4830696	4830696	G	A	exonic	AKR1E2	.	nonsynonymous SNV	AKR1E2:NM_001040177:exon2:c.G61A:p.E21K	.	.	431	1079	11	1	0	13	0.00598802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.819	P	0.229	B	0.027	N	0.983	N	0.93	L	2.24	T	-1.031	T	0.063	T	0.271	1.525	11.05	-1.24	-0.232	1.784	5.023	0.059	.	0.0004	0.00219649	0.0020	0.0003	0.0005	0	0.0005	0.0006	0.0011	0.0117	0.0017529	271	154602	rs111857204	0.0011	0.0011	0.0008	0.0014	0.0113	0.0010	0.0010	0.0107	0.0105	0.0004	0.0004	0	0	0.0003	0.0055	0.0004	0.0013	0.0113	0.0007	0.0007	0.0005	0.0009	0.0118	0.0006	0.0005	0.0094	0.0085	7.22e-05	0	0.0001	0	0	0.0002	0.0034	0.0006	0.0005	0.0118	0.044	0.53172	D	0.094	0.49663	T	0.535	0.37805	P	0.229	0.38155	B	0.026722	0.25870	N	0.401767	0.98285	0.24931	N	0.36	0.11994	N	0.7	0.51474	T	-3.04	0.62863	D	0.314	0.41754	-1.0313	0.20034	T	0.063	0.26244	T	10	0.009253293	0.00209	T	.	.	.	0.059	0.16972	.	.	0.410734915765	0.40690	0.6114099410288499	0.61072	0.124813072695	0.14060	0.333933621645	0.15526	T	0.029026	0.23939	T	-0.486097	0.00683	T	-0.460633	0.26530	T	0.0231504563305682	0.01041	T	0.905209	0.66592	D	0.31343952	0.54082	0.19461846	0.43094	0.31343952	0.54082	0.19461846	0.43093	-6.474	0.53946	T	.	.	0.105	0.19114	B	.;.;.;.;.	.;.;.;.;.	1.899211	0.24122	16.28	0.99441545312632951	0.64770	0.62896	0.31921	D	AEFDBI	0.157981	0.28357	N	-0.676103376624	0.16704	0.8533712	-0.753676146922622	0.15632	0.8231046	0.99995716506675	0.48110	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	3.95	-1.24	0.08948	2.088000	0.41287	0.692000	0.20773	0.588000	0.31329	0.468000	0.26706	0.107000	0.22748	0.511000	0.29267	0.3675:0.1488:0.4838:0.0	5.023	0.13712	982	0.03397	NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	748.98	37	chr10	4830696	.	G	A	748.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=765;ExcessHet=0.0000;FS=8.563;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.40;ReadPosRankSum=0.680;SOR=0.209	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1263	20	0	1	0
chr10	4963447	4963447	G	A	exonic	AKR1C1	.	startloss	AKR1C1:NM_001353:exon1:c.G3A:p.M1?,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.963	D	0.693	P	0.719	N	1.000	D	.	.	1.85	T	-0.997	T	0.094	T	0.8	3.018	16.07	2.46	1.378	3.657	8.419	0.283	0.0330012751776	.	.	8.241e-06	9.612e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs145424901	1.163e-05	1.163e-05	9.529e-06	1.375e-05	0.0003	7.09e-06	5.79e-06	0.0002	0.0001	0.0003	6.708e-05	0	0	0	0.0002	0	3.311e-05	1.159e-05	6.567e-05	6.561e-05	5.14e-05	8.059e-05	0.0002	3.515e-05	2.615e-05	7.875e-05	5.577e-05	0.0002	0	0.0002	0	0	0	0	0	0	0	0.002	0.72154	D	0.005	0.72224	D	0.235	0.30743	B	0.36	0.43183	B	0.718638	0.09954	N	0.842505	1	0.81001	D	.	.	.	1.85	0.24472	T	-3.01	0.62518	D	0.856	0.85238	-0.9968	0.30810	T	0.094	0.35551	T	9	0.9786869	0.97757	D	0.033001	0.54670	D	0.283	0.60100	0.991	0.99904	0.209622950755	0.20551	0.44483610031515564	0.44401	.	.	.	.	.	0.171979	0.52030	T	0.00585352	0.52458	T	-0.146503	0.59553	T	0.780667185783386	0.45092	D	0.9	0.65058	D	0.7146848	0.78866	0.4887573	0.70417	0.7146848	0.78868	0.4887573	0.70418	-11.182	0.80647	D	.	.	.	.	.	.	.	2.159293	0.27512	17.49	0.98868167243492955	0.47597	0.98072	0.79360	D	ALL	0.045102	0.07337	N	-0.202632500131724	0.33026	1.869102	-0.30024442441246	0.28091	1.563546	0.99999999848006	0.74766	0.608746	0.35421	0	0.610034	0.51514	0	0.731467	0.93227	0	0.564101	0.26826	0	.	.	2.46	2.46	0.29032	3.887000	0.55910	5.572000	0.48946	0.503000	0.22915	0.977000	0.34929	1.000000	0.68203	0.149000	0.20271	0.0:0.0:1.0:0.0	8.419	0.31849	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2090.98	34	chr10	4963447	.	G	A	2090.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.022;DP=1002;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.71;MQRankSum=-6.960e-01;QD=8.86;ReadPosRankSum=-1.430e-01;SOR=0.698	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1129	20	0	1	0
chr10	4965968	4965968	C	T	exonic	AKR1C1	.	nonsynonymous SNV	AKR1C1:NM_001353:exon2:c.C139T:p.R47C,	.	.	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.873	P	0.483	P	0.024	N	0.878	D	3.655	H	1.6	T	-0.419	T	0.156	T	0.852	1.555	11.15	2.48	1.388	1.946	10.670	0.262	0.00427414024983	.	.	4.945e-05	9.612e-05	0	0	0	4.499e-05	0	0.0001	3.88e-05	6	154602	rs748193660	2.805e-05	2.873e-05	2.859e-05	2.75e-05	0.0003	2.087e-05	1.878e-05	6.092e-05	2.521e-05	5.974e-05	4.472e-05	3.826e-05	0	0	0.0003	2.338e-05	3.312e-05	6.957e-05	1.314e-05	1.313e-05	2.569e-05	0	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	0.01	0.59928	D	0.025	0.59732	D	0.602	0.39365	P	0.362	0.43260	B	0.023621	0.26410	N	0.313238	0.614507	0.35700	D	3.765	0.95136	H	1.6	0.28604	T	-6.26	0.91956	D	0.896	0.90138	-0.4188	0.71431	T	0.156	0.48738	T	10	0.8860956	0.87938	D	0.004274	0.10341	T	0.262	0.57482	.	.	0.407082143382	0.40323	0.6759258879280716	0.67530	0.192679911477	0.21596	.	.	.	0.198416	0.55539	T	0.0181031	0.54125	T	-0.00911872	0.69742	D	0.838940322399139	0.49240	D	0.892211	0.62852	D	0.3603881	0.57865	0.26395923	0.52209	0.3603881	0.57866	0.26395923	0.52208	-8.232	0.62640	D	.	.	0.217	0.44732	B	.;.	.;.	4.437041	0.68853	25.3	0.9724104116454575	0.32996	0.60823	0.31306	D	AEFBCI	0.602237	0.59418	D	-0.0717022077095819	0.38638	2.266001	-0.266318641194852	0.29216	1.635045	0.999997416465997	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.616125	0.45549	0	.	.	2.48	2.48	0.29194	3.062000	0.49664	0.395000	0.17934	0.454000	0.21428	1.000000	0.71638	0.000000	0.08366	0.041000	0.14368	0.0:1.0:0.0:0.0	10.670	0.44946	982	0.03397	NADP-dependent oxidoreductase domain|Aldo/keto reductase, conserved site|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|Aldo/keto reductase, conserved site|NADP-dependent oxidoreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1141.98	35	chr10	4965968	.	C	T	1141.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.98;DP=829;ExcessHet=0.0000;FS=0.686;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.70;MQRankSum=0.653;QD=9.14;ReadPosRankSum=-1.742e+00;SOR=0.590	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1441	20	0	1	0
chr10	4995347	4995347	T	C	exonic	AKR1C2	.	nonsynonymous SNV	AKR1C2:NM_001321027:exon6:c.A740G:p.N247S	Obesity, hyperphagia, and developmental delay (3);46XY sex reversal 8, Autosomal recessive	.	52	1469	1	0	0	1	0.000340252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.003	B	0.007	B	0.360	N	0.998	N	1.045	L	1.99	T	-1.036	T	0.031	T	0.059	-0.856	0.535	-3.29	-1.063	-1.804	8.000	0.019	.	.	.	0.0009	0	0	0.0141	0	0	0	0	.	.	.	rs782501503	8.178e-05	0.0001	5.366e-05	0.0001	0.0009	6.921e-05	6.441e-05	0.0007	0.0007	0	8.463e-05	0	2.669e-05	0	0.0003	2.694e-05	0.0002	0.0009	4.74e-05	5.919e-05	3.95e-05	5.575e-05	0.0007	2.167e-05	1.564e-05	0.0002	0.0001	2.503e-05	0	6.837e-05	0	0	0	0	2.983e-05	0	0.0007	0.265	0.16305	T	0.269	0.23638	T	0.002	0.11197	B	0.006	0.12992	B	0.360352	0.13679	N	0.663300	1	0.08975	N	-0.035	0.05024	N	1.99	0.21666	T	-2.56	0.55339	D	0.081	0.10483	-1.0356	0.18668	T	0.031	0.13504	T	10	0.004617214	0.00096	T	.	.	.	0.019	0.03383	0.519	0.62066	0.251639045875	0.24756	0.19567362020362788	0.19484	1.50794490564	0.87177	0.443014979362	0.30989	T	0.146543	0.48420	T	-0.373802	0.03406	T	-0.774717	0.02616	T	0.0167881980221139	0.00434	T	0.705629	0.31596	T	0.15122283	0.34388	0.1140601	0.27530	0.15122283	0.34388	0.1140601	0.27529	-6.57	0.50823	T	0.2081678501505727	0.27839	0.078	0.07697	B	.;.	.;.	0.072056	0.04800	1.411	0.38032063044277692	0.02541	0.01604	0.05200	N	AEFI	0.102002	0.20472	N	-1.68102652128097	0.00911	0.03944718	-1.75440689243011	0.00917	0.04101368	0.999622275410834	0.41093	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	3.0	-3.29	0.04706	-1.047000	0.03632	-12.601000	0.00513	-1.583000	0.00917	0.001000	0.13787	0.000000	0.08366	0.068000	0.16518	0.0:0.1009:0.5443:0.3547	8.000	0.29451	982	0.03397	NADP-dependent oxidoreductase domain|Aldo/keto reductase, conserved site|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|Aldo/keto reductase, conserved site|NADP-dependent oxidoreductase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	631.98	34	chr10	4995347	.	T	C	631.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=745;ExcessHet=0.0000;FS=1.121;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=30.93;MQRankSum=-1.740e-01;QD=12.39;ReadPosRankSum=0.076;SOR=0.876	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1432	20	0	1	0
chr10	5001555	5001555	C	G	exonic	AKR1C2	.	nonsynonymous SNV	AKR1C2:NM_001135241:exon2:c.G211C:p.D71H	Obesity, hyperphagia, and developmental delay (3);46XY sex reversal 8, Autosomal recessive	.	1	1475	45	1	0	47	0.0156823	.	.	1328166	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.994	D	0.931	D	0.000	D	0.775	D	2.215	M	0.63	T	-0.450	T	0.182	T	0.284	1.834	12.09	2.35	1.601	4.461	10.778	0.165	0.00744443064519	0.0008	0.00259585	0.0025	0.0008	0.0034	0	0	0.0018	0.0033	0.0083	0.0022833	353	154602	rs142672563	0.0018	0.0017	0.0015	0.0020	0.0196	0.0017	0.0017	0.0167	0.0156	0.0007	0.0036	0.0034	2.519e-05	0	0.0196	0.0011	0.0030	0.0088	0.0014	0.0014	0.0011	0.0017	0.0096	0.0012	0.0012	0.0074	0.0066	0.0002	0	0.0031	0.0043	0	0	0.0204	0.0012	0.0043	0.0096	0.001	0.78490	D	0.003	0.76473	D	0.988	0.66517	D	0.908	0.64494	P	0.000030	0.55875	D	0.000000	0.775386	0.34201	D	1.48	0.37141	L	0.63	0.53088	T	-5.21	0.87063	D	0.365	0.46086	-0.4503	0.70390	T	0.182	0.52919	T	10	0.013651252	0.00289	T	0.007444	0.19739	T	0.165	0.42395	.	.	0.751104417205	0.74885	0.3423853051164103	0.34151	0.575648504565	0.53556	0.513392090797	0.40696	T	0.147266	0.48527	T	-0.425084	0.01588	T	-0.378253	0.35927	T	0.0603747822868566	0.07227	T	0.886611	0.61335	D	0.846812	0.87101	0.6753474	0.80937	0.8253493	0.85584	0.7384825	0.84544	-11.47	0.82173	D	.	.	0.420	0.60651	A	.;.;.;.	.;.;.;.	3.684724	0.52465	23.2	0.99320986578777259	0.59393	0.76500	0.37524	D	AEFBHCI	0.682281	0.64535	D	0.302339213159387	0.56268	3.791319	0.156251632798845	0.47474	2.977087	0.99999978448377	0.74766	0.549168	0.22868	0	0.573888	0.26702	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	2.35	2.35	0.28166	5.057000	0.64120	2.548000	0.33250	0.306000	0.19039	1.000000	0.71638	0.021000	0.20819	0.565000	0.30531	0.0:1.0:0.0:0.0	10.778	0.45561	982	0.03397	NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	4961.98	34	chr10	5001555	.	C	G	4961.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.250e-01;DP=1085;ExcessHet=0.0000;FS=2.734;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.70;MQRankSum=0.522;QD=13.45;ReadPosRankSum=-1.400e-01;SOR=0.839	GT:AD:DP:GQ:PL	0/1:180,189:369:99:4976,0,4888	20	0	1	0
chr10	5096551	5096551	A	G	exonic	AKR1C3	.	nonsynonymous SNV	AKR1C3:NM_001253908:exon2:c.A226G:p.R76G	.	.	9	1508	4	1	0	6	0.00198544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	4.055	H	-0.41	T	-0.015	T	0.549	D	0.776	3.672	18.66	0.709	0.174	2.295	6.038	0.574	.	.	0.00399361	0.0026	9.612e-05	8.652e-05	0	0	1.502e-05	0	0.0194	0.0012679	33	26028	rs370884375	0.0011	0.0011	0.0006	0.0017	0.0178	0.0011	0.0011	0.0171	0.0168	2.989e-05	2.236e-05	0	0.0002	0	0.0007	9.895e-06	0.0015	0.0178	0.0006	0.0006	0.0003	0.0009	0.0193	0.0005	0.0005	0.0161	0.0149	0	0	0	0	0	0	0	1.47e-05	0.0009	0.0193	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000013	0.62929	D	0.000000	0.91807	0.81001	D	4.745	0.99558	H	-0.41	0.69413	T	-6.57	0.91912	D	0.872	0.86941	-0.0150	0.81943	T	0.549	0.83460	D	10	0.011538297	0.00252	T	.	.	.	0.574	0.82742	.	.	0.829090776401	0.82747	0.8314991922048894	0.83108	0.0817148320359	0.09202	0.453360050917	0.32402	T	0.148845	0.71376	T	-0.141279	0.29687	T	0.0392228	0.72877	D	0.291325500009389	0.24644	T	0.983302	0.94968	D	0.9430236	0.95555	0.8546188	0.91815	0.9430236	0.95556	0.8546188	0.91815	-12.722	0.88185	D	.	.	0.824	0.79091	P	.;.;.;.	.;.;.;.	3.805173	0.54855	23.5	0.98662321888138704	0.44345	0.81961	0.41265	D	AEFBCI	0.525749	0.54839	D	0.267788938815818	0.54523	3.617731	-0.0172486266619947	0.38936	2.301154	0.999998096679088	0.74766	0.608746	0.35421	0	0.573888	0.26702	0	0.658983	0.55881	0	0.605231	0.38476	0	.	.	2.0	0.709	0.17307	1.554000	0.35873	6.065000	0.53205	0.587000	0.30956	0.928000	0.32210	1.000000	0.68203	0.216000	0.22352	0.7357:0.2643:0.0:0.0	6.038	0.18944	982	0.03397	NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3193.98	269	chr10	5096551	.	A	G	3193.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.888e+00;DP=1197;ExcessHet=0.0000;FS=3.331;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.08;MQRankSum=-6.720e-01;QD=11.87;ReadPosRankSum=-4.450e-01;SOR=0.527	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,99,1485	20	0	1	0
chr10	5373919	5373919	G	A	exonic	UCN3	.	nonsynonymous SNV	UCN3:NM_053049:exon2:c.G199A:p.A67T,	.	.	430	1090	2	0	0	2	0.00091659	.	.	2397400	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.67	T	0.0	B	0.0	B	0.074	N	1.000	N	0.895	L	1.5	T	-0.997	T	0.040	T	0.06	-0.222	2.925	2.17	0.179	0.142	5.227	0.025	0.00359875250849	.	.	3.568e-05	0	9.386e-05	0	0	4.872e-05	0	0	3.23e-05	5	154602	rs782001501	0.0001	0.0001	0.0001	9.767e-05	0.0005	9.539e-05	9.02e-05	0.0001	9.075e-05	2.989e-05	0.0002	3.828e-05	2.52e-05	0	0.0005	0.0001	0.0002	6.962e-05	7.232e-05	7.224e-05	5.141e-05	9.42e-05	0.0001	3.973e-05	3.129e-05	7.908e-05	5.994e-05	0	0	6.548e-05	0	0	0	0	0.0001	0	0	0.468	0.08534	T	0.677	0.06166	T	0.0	0.02946	B	0.0	0.01387	B	0.073927	0.21315	N	0.483859	1	0.08975	N	0	0.06538	N	1.5	0.31205	T	-0.27	0.11366	N	0.047	0.01911	-0.9972	0.30701	T	0.040	0.17106	T	10	0.02957955	0.01084	T	0.003599	0.08247	T	0.025	0.05312	.	.	0.0675242888579	0.06100	0.09599184953062669	0.09531	0.0409305257742	0.04391	0.232528716326	0.02161	T	0.122587	0.44636	T	-0.589451	0.00169	T	-0.786923	0.02251	T	0.0133587229987075	0.00241	T	0.347965	0.07682	T	0.019849773	0.00525	0.034473144	0.02522	0.019849773	0.00525	0.034473144	0.02521	-3.702	0.19348	T	.	.	0.069	0.02993	B	.	.	-0.088226	0.03712	0.760	0.78012086062079111	0.12118	0.13776	0.18046	N	AEFDI	0.138921	0.26036	N	-1.40856037459685	0.02563	0.1133445	-1.38236877433259	0.03439	0.1604508	0.0393969161788483	0.14392	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	5.02	2.17	0.26736	-0.080000	0.11303	0.185000	0.15676	-1.966000	0.00472	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.145:0.6279:0.1453:0.0818	5.227	0.14719	969	0.06854	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1266.98	33	chr10	5373919	.	G	A	1266.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.400e-02;DP=784;ExcessHet=0.0000;FS=14.027;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.40;ReadPosRankSum=0.414;SOR=0.137	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1117	20	0	1	0
chr10	5641946	5641946	G	A	exonic	ASB13	.	nonsynonymous SNV	ASB13:NM_024701:exon5:c.C533T:p.A178V,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.977	D	0.64	P	0.000	D	1.000	D	1.145	L	0.51	T	-0.920	T	0.171	T	0.684	4.243	22.1	4.83	2.721	7.387	15.871	0.131	0.014660083346	7.7e-05	0.000199681	0.0012	0	0	0	0.0096	0.0011	0.0022	0	0.0009638	149	154602	rs199941400	0.0005	0.0005	0.0005	0.0005	0.0002	0.0004	0.0004	0.0001	0.0001	6.004e-05	4.485e-05	3.838e-05	2.539e-05	0.0086	0.0002	0.0002	0.0006	1.162e-05	0.0010	0.0010	0.0005	0.0015	0.0005	0.0008	0.0008	0.0004	0.0003	0	0	6.541e-05	0	0	0.0103	0	0.0005	0	0.0002	0.027	0.46513	D	0.213	0.26467	T	0.977	0.58535	D	0.64	0.52082	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.95	0.23787	L	0.51	0.55439	T	-2.25	0.50337	N	0.646	0.65758	-0.9204	0.45499	T	0.171	0.51213	T	10	0.011765331	0.00256	T	0.01466	0.34921	T	0.131	0.35738	.	.	0.649314703251	0.64640	0.4402413671244039	0.43941	0.403524095791	0.41286	0.70527613163	0.67908	T	0.120864	0.44341	T	-0.24421	0.14817	T	-0.128494	0.61100	T	0.192447766661644	0.19988	T	0.980469	0.93342	D	0.2610001	0.49157	0.17449296	0.39848	0.2610001	0.49157	0.17449296	0.39848	-8.423	0.63918	D	.	.	0.391	0.59068	A	.	.	4.996975	0.82880	27.9	0.99902638090194851	0.97426	0.97974	0.78556	D	AEFBI	0.852430	0.76934	D	0.47134753073071	0.65424	4.820774	0.502528748765835	0.68161	5.181968	0.999999448924035	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.76	4.83	0.61880	7.487000	0.80243	11.741000	0.95195	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.631000	0.32184	0.0:0.0:0.8639:0.1361	15.871	0.78898	925	0.17918	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1429.98	36	chr10	5641946	.	G	A	1429.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.870e-01;DP=799;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.07;ReadPosRankSum=0.618;SOR=0.793	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1308	20	0	1	0
chr10	5731083	5731083	A	G	exonic	TASOR2	.	nonsynonymous SNV	TASOR2:NM_017782:exon11:c.A1084G:p.K362E	.	.	.	.	.	.	.	.	.	.	.	3324417	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.23	T	0.89	P	0.132	B	0.009	N	0.997	N	2.175	M	3.32	T	-0.970	T	0.016	T	0.376	2.719	15.05	3.48	1.018	1.743	8.230	0.067	0.00528934843132	0.0003	0.000399361	0.0002	0	0	0	0	0.0003	0.0011	0	0.0001746	27	154602	rs189072201	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0002	0.0002	2.987e-05	2.236e-05	0	0	0	0	0.0002	0.0001	0	0.0002	0.0002	0.0003	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	7.215e-05	0	0.0003	0	0	0	0	0.0003	0	0	0.005	0.63226	D	0.037	0.51737	D	0.89	0.48942	P	0.132	0.33005	B	0.009113	0.30512	N	0.285343	0.997068	0.22804	N	1.935	0.51832	L	3.32	0.06214	T	-1.64	0.39314	N	0.25	0.28264	-0.9697	0.37262	T	0.016	0.06664	T	10	0.047776043	0.04141	T	0.005289	0.13525	T	0.067	0.19503	.	.	0.138757226776	0.13463	0.3067172792578228	0.30584	0.25835002658	0.28389	0.396445125341	0.24574	T	0.03618	0.24004	T	-0.370903	0.03548	T	-0.464576	0.26101	T	0.126402252005831	0.15046	T	0.593841	0.21938	T	0.11652756	0.27483	0.11879577	0.28676	0.11652756	0.27482	0.11879577	0.28675	-4.137	0.25833	T	.	.	0.174	0.38099	B	.;.	.;.	2.754364	0.36112	20.2	0.99734811417627767	0.83047	0.73906	0.36150	D	AEBI	0.041321	0.06266	N	-0.0452270875425153	0.39816	2.354199	-0.068299704297131	0.36708	2.139803	0.508420635648329	0.20999	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.78	3.48	0.38946	1.372000	0.33866	3.381000	0.38003	0.756000	0.94297	0.785000	0.29533	0.998000	0.33993	0.146000	0.20164	0.843:0.0:0.157:0.0	8.230	0.30750	652	0.62785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1166.98	43	chr10	5731083	.	A	G	1166.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.000e-02;DP=830;ExcessHet=0.0000;FS=0.758;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=0.530;SOR=0.613	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr10	5796837	5796837	C	T	exonic	GDI2	.	nonsynonymous SNV	GDI2:NM_001115156:exon3:c.G179A:p.G60E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.004	B	0.000	N	1.000	D	0.48	N	0.32	T	-0.983	T	0.106	T	0.948	1.397	10.60	4.74	2.324	2.514	17.696	0.337	0.016036804426	.	.	2.474e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs748784089	2.454e-05	2.737e-05	1.12e-05	3.792e-05	0.0004	1.782e-05	1.577e-05	0.0003	0.0002	3.052e-05	0	0	0	0	0.0002	0	0	0.0004	1.315e-05	1.314e-05	0	2.692e-05	0.0002	2.18e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	0	0	0.0002	1.0	0.04482	T	0.632	0.12776	T	0.0	0.02946	B	0.002	0.06944	B	0.000000	0.84330	N	0.050031	1	0.81001	D	-0.09	0.04745	N	0.12	0.61089	T	0.12	0.06488	N	0.522	0.55193	-0.9825	0.34422	T	0.106	0.38734	T	10	0.13167685	0.25062	T	0.016037	0.37096	T	0.337	0.65913	0.379	0.39482	0.89282191451	0.89176	0.7783433847654847	0.77784	0.441325918188	0.44124	0.647070527077	0.59570	T	0.297301	0.66991	T	0.0120087	0.53300	T	0.0899918	0.76246	D	0.0596841925199037	0.07118	T	0.769523	0.40326	T	0.19869839	0.41782	0.21666454	0.46302	0.19869839	0.41782	0.21666454	0.46301	-3.33	0.14126	T	.	.	0.180	0.41888	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.276804	0.44877	22.0	0.87556625280602163	0.17313	0.96887	0.71481	D	AEFBI	0.631533	0.61248	D	-0.349301448540702	0.27297	1.496575	-0.13048393435371	0.34167	1.962422	0.999981969997923	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.74	4.74	0.59717	2.673000	0.46524	4.825000	0.45150	0.599000	0.40250	0.983000	0.35670	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.696	0.88188	439	0.80177	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	534.98	34	chr10	5796837	.	C	T	534.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.684;DP=722;ExcessHet=0.0000;FS=1.290;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.08;ReadPosRankSum=-1.040e-01;SOR=1.085	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,970	20	0	1	0
chr10	5906438	5906438	G	C	exonic	FBH1	.	nonsynonymous SNV	FBH1:NM_001258452:exon3:c.G337C:p.V113L	.	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.0	B	0.001	B	0.214	N	1.000	N	0	N	.	.	-1.046	T	0.032	T	0.026	-1.081	0.162	-9.0	-2.176	-0.388	4.498	0.005	0.00484465900332	.	0.000998403	0.0007	0	8.66e-05	0	0.0002	1.503e-05	0.0011	0.0047	0.0005692	88	154602	rs148412195	0.0003	0.0003	0.0002	0.0004	0.0044	0.0003	0.0003	0.0041	0.0039	0	0	0	0	0	0.0005	2.338e-05	0.0003	0.0044	0.0001	0.0001	6.422e-05	0.0002	0.0037	8.656e-05	7.25e-05	0.0024	0.0020	0	0	0	0	0	0	0	2.939e-05	0	0.0037	0.629	0.05357	T	0.793	0.04234	T	0.0	0.02946	B	0.0	0.04355	B	0.213652	0.03404	N	1.468140	1	0.08975	N	.	.	.	.	.	.	0.01	0.06868	N	0.037	0.01347	-1.0463	0.15447	T	0.032	0.13592	T	9	0.003368944	0.00059	T	0.004845	0.12130	T	0.005	0.00259	0.156	0.05964	0.043077524339	0.03247	0.10207721457582473	0.10137	0.117668475539	0.13252	0.241480857134	0.02925	T	0.002582	0.15427	T	-0.724198	0.00026	T	-0.81277	0.01604	T	0.00797927610774305	0.00094	T	0.122788	0.00953	T	0.08494001	0.19680	0.028959826	0.01182	0.08494001	0.19680	0.028959826	0.01182	-2.434	0.05346	T	.	.	0.089	0.12084	B	.;.;.	.;.;.	-1.956719	0.00112	0.002	0.35443885880385573	0.02225	0.09025	0.14861	N	AEFDGBHI	0.088919	0.18025	N	-2.24278429393881	0.00061	0.002634269	-2.27052621425352	0.00077	0.003398765	0.999999999245997	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.76	-9.0	0.00641	-0.373000	0.07550	-1.353000	0.05642	-3.231000	0.00107	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3374:0.1843:0.3888:0.0895	4.498	0.11258	794	0.45591	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1763.98	34	chr10	5906438	.	G	C	1763.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.44;DP=892;ExcessHet=0.0000;FS=2.322;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.46;ReadPosRankSum=-3.070e-01;SOR=0.470	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	20	0	1	0
chr10	5977548	5977548	G	C	exonic	IL15RA	.	nonsynonymous SNV	IL15RA:NM_001256765:exon1:c.C50G:p.P17R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.891e-06	1.026e-05	1.022e-05	7.441e-06	0.0003	4.5e-06	3.28e-06	3.09e-06	1.98e-06	0	0	0	0	0	0.0003	7.419e-06	2.202e-05	2.934e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	0.999924	0.19486	N	.	.	.	.	.	.	.	.	.	0.094	0.07398	.	.	.	.	.	.	.	0.13821691	0.26287	T	.	.	.	.	.	.	.	0.503930629158	0.50032	0.10235018402095643	0.10165	.	.	0.807409465313	0.83095	D	.	.	.	-0.225891	0.17195	T	-0.562253	0.16165	T	.	.	.	0.273273	0.04638	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.03849	B	.	.	-0.010533	0.04210	1.029	0.91592704437096562	0.20875	0.00199	0.01145	N	ALL	.	.	.	.	.	.	.	.	.	0.999999999999985	0.74766	0.163419	0.03694	0	0.090139	0.02499	0	0.172434	0.04157	0	0.063338	0.01809	2	0.120163	0.24643	3.5	-3.84	0.03976	-1.889000	0.01706	-1.759000	0.04778	-0.308000	0.06107	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1477:0.3101:0.2876:0.2545	1.061	0.01501	715	0.56137	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	378.98	24	chr10	5977548	.	G	C	378.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=564;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.58;ReadPosRankSum=0.206;SOR=0.914	GT:AD:DP:GQ:PL	0/1:12,14:26:99:393,0,284	20	0	1	0
chr10	7176091	7176091	C	T	exonic	SFMBT2	.	nonsynonymous SNV	SFMBT2:NM_001018039:exon17:c.G1883A:p.R628Q	.	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	0.843	P	0.119	B	0.000	N	0.996	N	-0.55	N	0.94	T	-1.018	T	0.029	T	0.115	0.447	6.427	3.96	0.791	2.757	8.875	0.116	0.00983821609349	.	.	1.647e-05	0	0	0.0001	0	1.498e-05	0	0	1.29e-05	2	154602	rs777488992	9.577e-06	9.577e-06	6.806e-06	1.238e-05	0.0002	5.56e-06	4.35e-06	4.55e-06	3.32e-06	2.987e-05	0	0	2.519e-05	0	0.0002	8.993e-06	0	1.159e-05	1.315e-05	1.314e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.984	0.01991	T	0.626	0.07292	T	0.843	0.46605	P	0.119	0.32162	B	0.000383	0.44960	N	0.212871	1	0.08975	N	-0.145	0.04423	N	0.94	0.43672	T	-0.26	0.11185	N	0.341	0.38438	-1.0180	0.24366	T	0.029	0.12453	T	10	0.1481933	0.28068	T	0.009838	0.25653	T	0.116	0.32463	0.391	0.41443	0.082315109003	0.07666	0.31424925016028793	0.31337	0.225021565053	0.25044	0.370731025934	0.20937	T	0.014531	0.12356	T	-0.393147	0.02566	T	-0.633376	0.10161	T	0.172640356818923	0.18758	T	0.855714	0.54342	D	0.024008572	0.01192	0.03745475	0.03401	0.024008572	0.01191	0.03745475	0.03400	-2.489	0.05707	T	.	.	0.072	0.04119	B	.;.	.;.	3.682938	0.52433	23.2	0.75893161625476957	0.11252	0.54058	0.29522	D	AEFDBI	0.143945	0.26678	N	-0.417558624353333	0.24853	1.344946	-0.304887056059175	0.27942	1.554077	0.970864693798234	0.29241	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.83	3.96	0.45097	2.223000	0.42578	4.053000	0.41524	0.599000	0.40250	0.967000	0.34061	0.999000	0.35428	0.984000	0.60418	0.0:0.7735:0.0:0.2265	8.875	0.34501	966	0.07191	SLED domain;SLED domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2099.98	154	chr10	7176091	.	C	T	2099.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=847;ExcessHet=0.0000;FS=5.916;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.64;ReadPosRankSum=1.83;SOR=0.375	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr10	7248643	7248643	C	T	exonic	SFMBT2	.	nonsynonymous SNV	SFMBT2:NM_001018039:exon8:c.G877A:p.A293T	.	.	430	1049	41	2	0	45	0.0209986	.	.	724060	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.59	T	0.993	D	0.889	P	0.263	N	1.000	D	2.015	M	0.92	T	-0.818	T	0.206	T	0.694	2.762	15.20	5.4	2.519	3.977	19.184	0.237	.	0.0035	0.00459265	0.0053	0.0016	0.0017	0	0.0006	0.0048	0.0078	0.0171	0.0049547	766	154602	rs117741182	0.0036	0.0036	0.0031	0.0041	0.0174	0.0035	0.0035	0.0166	0.0163	0.0008	0.0018	0.0051	2.519e-05	0.0006	0.0168	0.0028	0.0043	0.0174	0.0027	0.0027	0.0025	0.0028	0.0164	0.0025	0.0024	0.0135	0.0124	0.0006	0.0011	0.0020	0.0058	0	0.0005	0.0136	0.0034	0.0038	0.0164	0.421	0.09806	T	0.429	0.13752	T	0.993	0.65571	D	0.889	0.63100	P	0.263242	0.03723	N	1.458410	1	0.81001	D	2.25	0.63811	M	0.92	0.44461	T	-0.81	0.22294	N	0.62	0.63544	-0.8181	0.54053	T	0.206	0.56512	T	10	0.0093427	0.00211	T	.	.	.	0.237	0.54074	.	.	0.193917141947	0.19028	0.3119682848669579	0.31109	0.580245724104	0.53879	0.460799157619	0.33420	T	0.012519	0.10987	T	-0.328422	0.06231	T	-0.230906	0.51684	T	0.0225845717062435	0.00975	T	0.778122	0.41194	T	0.1463249	0.33502	0.096215524	0.22852	0.1463249	0.33502	0.096215524	0.22851	-5.141	0.38336	T	.	.	0.086	0.10691	B	.;.	.;.	3.395496	0.47037	22.4	0.992965443619932	0.58469	0.85763	0.44932	D	AEFDBCI	0.658062	0.62947	D	0.506294479907282	0.67460	5.084768	0.497719078246809	0.67837	5.13802	0.999999940766446	0.74766	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.564101	0.26826	0	.	.	5.4	5.4	0.77957	4.043000	0.57065	4.877000	0.45627	-0.175000	0.10903	1.000000	0.71638	1.000000	0.68203	0.746000	0.35646	0.0:1.0:0.0:0.0	19.184	0.93622	944	0.12746	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2667.11	35	chr10	7248643	.	C	T	2667.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.01;DP=905;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=-9.900e-02;SOR=0.685	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1279	19	0	2	0
chr10	7563280	7563280	C	T	exonic	ITIH5	.	nonsynonymous SNV	ITIH5:NM_032817:exon10:c.G1990A:p.V664I	.	.	432	1067	20	3	0	26	0.012037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.024	B	0.025	B	0.782	N	1.000	N	.	.	2.79	T	-0.960	T	0.010	T	0.052	0.625	7.363	-10.8	-2.117	-0.876	13.653	0.028	.	0.0021	0.00519169	0.0045	0.0010	0.0016	0.0051	0.0003	0.0033	0.0044	0.0154	0.0043143	667	154602	rs138658798	0.0039	0.0039	0.0035	0.0044	0.0149	0.0039	0.0038	0.0142	0.0139	0.0012	0.0016	0.0011	0.0026	0.0003	0.0061	0.0035	0.0039	0.0149	0.0027	0.0027	0.0030	0.0025	0.0137	0.0025	0.0024	0.0110	0.0101	0.0010	0	0.0020	0.0009	0.0062	0.0004	0.0102	0.0034	0.0038	0.0137	.	.	.	0.567	0.08900	T	.	.	.	.	.	.	0.782441	0.09460	N	0.906581	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.016	0.00407	-0.9602	0.39143	T	0.010	0.03811	T	9	0.021475136	0.00515	T	.	.	.	.	.	.	.	0.1749357433	0.17121	0.2870433734980243	0.28617	.	.	0.241345494986	0.02912	T	0.001231	0.04646	T	-0.697012	0.00038	T	-0.761012	0.03077	T	0.00723123551724704	0.00083	T	0.483852	0.14720	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.02702	B	.;.	.;.	-1.301439	0.00437	0.009	0.30549303357370555	0.01677	0.02100	0.06226	N	AEFBI	0.095844	0.19358	N	-1.79139561895942	0.00566	0.024	-1.92933632022292	0.00428	0.01892974	0.999999842213881	0.74766	0.626454	0.40138	0	0.563428	0.19063	0	0.80507	0.99327	0	0.542086	0.14980	0	.	.	5.66	-10.8	0.00171	-0.832000	0.04507	-7.356000	0.01174	-1.547000	0.00968	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.0984:0.1549:0.7467	13.653	0.61795	976	0.04745	Inter-alpha-trypsin inhibitor heavy chain, C-terminal;Inter-alpha-trypsin inhibitor heavy chain, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2147.98	61	chr10	7563280	.	C	T	2147.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.936;DP=1417;ExcessHet=0.0000;FS=4.353;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=0.287;SOR=0.437	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	20	0	1	0
chr10	7576593	7576593	C	T	exonic	ITIH5	.	nonsynonymous SNV	ITIH5:NM_032817:exon6:c.G1196A:p.R399H	.	.	429	1074	19	0	0	19	0.00876788	.	.	724067	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.025	N	1.000	N	.	.	1.59	T	-0.980	T	0.027	T	0.112	-0.651	1.134	-2.14	-0.629	1.154	11.537	0.061	0.00277705274274	0.0025	0.00119808	0.0024	0.0006	0.0009	0	0.0015	0.0032	0.0011	0.0030	0.0023027	356	154602	rs148811531	0.0025	0.0025	0.0025	0.0025	0.0071	0.0024	0.0024	0.0054	0.0048	0.0010	0.0015	0.0044	0	0.0019	0.0071	0.0026	0.0025	0.0030	0.0020	0.0020	0.0020	0.0021	0.0026	0.0019	0.0018	0.0023	0.0022	0.0008	0	0.0024	0.0055	0	0.0024	0.0034	0.0026	0.0047	0.0021	0.749	0.04864	T	0.778	0.07444	T	0.0	0.02946	B	0.0	0.01387	B	0.025196	0.26132	N	0.466802	1	0.08975	N	.	.	.	1.59	0.28836	T	1.8	0.00513	N	0.055	0.03283	-0.9800	0.35002	T	0.027	0.11663	T	9	0.010210663	0.00228	T	0.002777	0.05781	T	0.061	0.17616	.	.	0.0551355673512	0.04727	0.37570074253142405	0.37484	.	.	0.206901490688	0.00687	T	0.003161	0.02566	T	-0.64418	0.00079	T	-0.700518	0.05797	T	0.000670027541734186	0.00006	T	0.786621	0.43457	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.01577	B	.;.;.	.;.;.	0.111307	0.05106	1.638	0.46584350116879147	0.03742	0.08431	0.14361	N	AEFDBI	0.150150	0.27438	N	-1.16588580509595	0.05523	0.2520297	-1.16274024222796	0.06541	0.3152244	0.773206773292317	0.23708	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	5.2	-2.14	0.06725	1.149000	0.31238	-2.371000	0.03838	-0.850000	0.02721	0.976000	0.34826	0.000000	0.08366	0.004000	0.06068	0.0:0.1385:0.0:0.8615	11.537	0.49894	975	0.05339	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2760.11	43	chr10	7576593	.	C	T	2760.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.040e-01;DP=1225;ExcessHet=0.1072;FS=0.519;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=-1.390e-01;SOR=0.623	GT:AD:DP:GQ:PL	0/0:73,0:73:99:0,120,1800	19	0	2	0
chr10	7585994	7585994	G	A	exonic	ITIH5	.	nonsynonymous SNV	ITIH5:NM_032817:exon4:c.C373T:p.R125W	.	.	429	1075	17	1	0	19	0.0087598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	0.998	D	.	.	-1.78	D	0.566	D	0.720	D	0.765	3.831	19.45	5.3	2.474	4.095	15.338	0.678	0.133894884645	0.0009	0.00159744	0.0015	0.0003	0.0006	0	0.0002	0.0010	0.0011	0.0064	0.0013971	216	154602	rs145334714	0.0012	0.0012	0.0009	0.0014	0.0070	0.0011	0.0011	0.0065	0.0064	0.0004	0.0007	0.0026	2.519e-05	5.616e-05	0.0040	0.0008	0.0015	0.0070	0.0009	0.0009	0.0008	0.0010	0.0081	0.0007	0.0007	0.0061	0.0054	0.0001	0	0.0006	0.0026	0	0	0	0.0009	0.0038	0.0081	0.004	0.68238	D	0.003	0.79402	D	1.0	0.90584	D	0.988	0.77976	D	0.000014	0.62929	D	0.113317	0.998001	0.44406	D	.	.	.	-1.78	0.83737	D	-4.45	0.77717	D	0.694	0.70527	0.566	0.91455	D	0.720	0.90397	D	9	0.019502044	0.00436	T	0.133895	0.81629	D	0.678	0.88157	.	.	0.774079430207	0.77200	0.7079729579848768	0.70739	.	.	0.463453710079	0.33784	T	0.118095	0.56548	T	-0.0936097	0.37480	T	0.0957884	0.76629	D	0.0508527668238195	0.05649	T	0.968903	0.90093	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.44986	B	.;.;.	.;.;.	5.555232	0.92087	32	0.99925838954833979	0.99042	0.92848	0.56693	D	AEFDBI	0.887551	0.81990	D	0.63415965453951	0.75347	6.289897	0.624923950025716	0.76756	6.54977	0.649678445123754	0.22148	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.3	5.3	0.74745	4.205000	0.58265	9.769000	0.81545	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.909000	0.44452	0.0:0.0:0.8599:0.1401	15.338	0.73989	964	0.07719	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	968.98	38	chr10	7585994	.	G	A	968.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=902;ExcessHet=0.0000;FS=1.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.79;ReadPosRankSum=0.278;SOR=0.535	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1420	20	0	1	0
chr10	7642023	7642023	G	A	exonic	ITIH5	.	nonsynonymous SNV	ITIH5:NM_001001851:exon3:c.C203T:p.T68M	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.607	P	0.143	B	0.014	N	0.984	N	.	.	1.96	T	-1.056	T	0.035	T	0.197	0.766	8.051	3.5	1.393	6.244	12.365	0.101	0.00832157905078	.	.	3.295e-05	0	0	0	0	5.994e-05	0	0	3.23e-05	5	154602	rs377349294	2.6e-05	2.599e-05	2.859e-05	2.338e-05	4.638e-05	1.933e-05	1.692e-05	2.117e-05	1.862e-05	0	0	0	0	1.872e-05	0	2.968e-05	0	4.638e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	6.541e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.541e-05	0	0	0	0	2.939e-05	0	0	0.121	0.27783	T	0.195	0.28032	T	0.273	0.31830	B	0.027	0.21085	B	0.014441	0.28535	N	0.443954	0.999997	0.08975	N	.	.	.	1.96	0.22270	T	-1.35	0.33598	N	0.125	0.13198	-1.0555	0.12908	T	0.035	0.15074	T	9	0.32873195	0.50138	T	0.008322	0.22029	T	0.101	0.28911	.	.	0.290962096972	0.28708	0.456090202809605	0.45527	.	.	0.408132970333	0.26198	T	0.07904	0.36033	T	-0.292816	0.09356	T	-0.527935	0.19493	T	0.6968132853508	0.40568	D	0.849315	0.53448	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.19478	B	.;.	.;.	3.238832	0.44204	21.9	0.92629167050592454	0.22100	0.91767	0.54220	D	AEFBI	0.766156	0.70242	D	-0.194883950996168	0.33348	1.890859	-0.181666254940155	0.32211	1.830319	0.533180049887467	0.21192	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.71	3.5	0.39181	6.350000	0.72965	5.726000	0.49496	0.676000	0.76740	1.000000	0.71638	0.993000	0.31925	0.316000	0.24877	0.074:0.1226:0.8034:0.0	12.365	0.54554	958	0.09170	VIT domain|VIT domain|VIT domain;VIT domain|VIT domain|VIT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1160.98	33	chr10	7642023	.	G	A	1160.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.47;DP=873;ExcessHet=0.0000;FS=2.504;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.55;ReadPosRankSum=-2.015e+00;SOR=0.962	GT:AD:DP:GQ:PL	0/1:64,46:110:99:1175,0,1447	20	0	1	0
chr10	7734944	7734944	G	A	exonic	ITIH2	.	nonsynonymous SNV	ITIH2:NM_002216:exon15:c.G1810A:p.A604T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.002	B	0.001	B	0.001	N	1.000	N	0	N	1.57	T	-1.036	T	0.038	T	0.144	0.624	7.356	-2.25	-0.858	-0.073	3.721	0.005	0.00443310003425	0.0004	.	5.795e-05	0	0	0	0	0.0001	0	0	4.53e-05	7	154602	rs139781584	3.766e-05	3.831e-05	4.36e-05	3.165e-05	0.0003	2.962e-05	2.658e-05	6.092e-05	2.956e-05	2.987e-05	2.236e-05	0	0	0	0.0003	4.317e-05	3.313e-05	1.16e-05	5.913e-05	5.91e-05	7.708e-05	4.034e-05	0.0002	3.077e-05	2.21e-05	5.841e-05	4.238e-05	0	0	0	0	0	0	0	0.0001	0	0.0002	0.132	0.27426	T	0.165	0.30926	T	0.002	0.09854	B	0.001	0.04355	B	0.001206	0.00754	N	2.575460	1	0.08975	N	-0.2	0.04182	N	1.57	0.29342	T	0.02	0.06739	N	0.171	0.18512	-1.0364	0.18419	T	0.038	0.16462	T	10	0.047852516	0.04157	T	0.004433	0.10844	T	0.005	0.00259	.	.	0.204665344411	0.20097	0.43104451946842814	0.43021	0.0819424430668	0.09232	0.241908669472	0.02964	T	0.020569	0.16172	T	-0.461643	0.00960	T	-0.696344	0.06027	T	0.028186277018446	0.01715	T	0.421058	0.11199	T	0.02916819	0.02367	0.052812733	0.08775	0.02916819	0.02367	0.052812733	0.08774	-2.73	0.07558	T	.	.	0.065	0.01859	B	.;.	.;.	0.224402	0.06063	2.507	0.93253842311300439	0.22945	0.09534	0.15268	N	AEFDBHCI	0.555644	0.56600	D	-1.31524494449409	0.03500	0.1564528	-1.32766547578171	0.04076	0.1915147	0.879074921722519	0.25579	0.55562	0.30534	0	0.573888	0.26702	0	0.68496	0.61776	0	0.564101	0.26826	0	.	.	5.42	-2.25	0.06498	0.034000	0.13663	0.051000	0.14001	-0.126000	0.13398	0.000000	0.06391	0.000000	0.08366	0.063000	0.16184	0.4614:0.0942:0.3399:0.1045	3.721	0.07985	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1245.98	38	chr10	7734944	.	G	A	1245.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=902;ExcessHet=0.0000;FS=2.363;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.30;ReadPosRankSum=-4.450e-01;SOR=0.954	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1347	20	0	1	0
chr10	7735067	7735067	C	T	exonic	ITIH2	.	nonsynonymous SNV	ITIH2:NM_002216:exon15:c.C1933T:p.P645S,	.	.	421	1094	7	0	0	7	0.00318907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.306	B	0.08	B	0.145	N	0.630	D	1.48	L	4.84	T	-1.011	T	0.006	T	0.138	-0.645	1.158	3.49	1.340	0.912	11.837	0.030	0.00898545296766	0.0002	.	0.0001	0	0	0	0	0.0001	0	0.0004	9.06e-05	14	154602	rs145252859	9.326e-05	9.371e-05	8.462e-05	0.0001	0.0014	8.045e-05	7.537e-05	0.0007	0.0005	0	0	0	0	0	0.0014	7.376e-05	0.0001	0.0004	1.971e-05	1.97e-05	1.284e-05	2.689e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0.0002	0.488	0.08042	T	0.676	0.06186	T	0.306	0.32693	B	0.08	0.28873	B	0.144710	0.18170	N	0.567398	0.629586	0.32778	D	1.335	0.33326	L	4.84	0.01481	T	-0.34	0.12661	N	0.511	0.54234	-1.0108	0.26666	T	0.006	0.02055	T	10	0.15597627	0.29386	T	0.008985	0.23655	T	0.030	0.07022	.	.	0.269111216191	0.26524	0.41925154262439507	0.41841	0.123788176146	0.13936	0.390999913216	0.23811	T	0.012351	0.10875	T	-0.516076	0.00464	T	-0.649082	0.09018	T	0.0189079230367156	0.00600	T	0.79872	0.44372	T	0.03907718	0.05327	0.053436205	0.09000	0.03907718	0.05327	0.053436205	0.08999	-3.625	0.18219	T	.	.	0.080	0.11749	B	.;.	.;.	2.032247	0.25831	16.90	0.62371256303776212	0.06945	0.89930	0.50723	D	AEFDBHCI	0.901697	0.84870	D	-0.445597519700092	0.23890	1.286089	-0.413741586803119	0.24594	1.347609	0.898456412307015	0.26027	0.55562	0.30534	0	0.573888	0.26702	0	0.68496	0.61776	0	0.564101	0.26826	0	.	.	5.53	3.49	0.39065	4.462000	0.59857	4.459000	0.43452	0.585000	0.30472	0.968000	0.34134	0.997000	0.33255	0.003000	0.05239	0.1312:0.7982:0.0:0.0706	11.837	0.51608	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1078.98	38	chr10	7735067	.	C	T	1078.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.430;DP=850;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=0.530;SOR=0.714	GT:AD:DP:GQ:PL	0/1:51,44:95:99:1093,0,1287	20	0	1	0
chr10	7964303	7964303	A	G	exonic	TAF3	.	nonsynonymous SNV	TAF3:NM_031923:exon3:c.A793G:p.T265A,	.	.	430	1085	6	1	0	8	0.00367309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	T	0.0	B	0.0	B	0.301	N	1.000	N	0.51	N	2.32	T	-0.961	T	0.011	T	0.044	0.172	4.924	-5.12	-0.790	-0.193	3.38	0.048	0.00506326915092	0.0034	0.00239617	0.0036	0.0008	0.0029	0	0.0023	0.0052	0.0067	0.0015	0.0036675	567	154602	rs41290305	0.0055	0.0055	0.0056	0.0054	0.0064	0.0054	0.0054	0.0063	0.0063	0.0010	0.0023	0.0066	0	0.0027	0.0031	0.0064	0.0060	0.0011	0.0036	0.0036	0.0036	0.0035	0.0057	0.0033	0.0032	0.0053	0.0051	0.0009	0	0.0038	0.0075	0	0.0015	0	0.0057	0.0028	0.0023	0.195	0.20759	T	0.686	0.05995	T	0.0	0.02946	B	0.0	0.01387	B	0.301276	0.14593	N	0.654017	0.999992	0.08975	N	0.895	0.22405	L	2.32	0.16640	T	-0.43	0.14390	N	0.031	0.00770	-0.9608	0.39031	T	0.011	0.04042	T	10	0.0031517148	0.00053	T	0.005063	0.12815	T	0.048	0.13305	.	.	0.223474106383	0.21959	0.07085597968474962	0.07022	0.197051641399	0.22076	0.383052200079	0.22689	T	0.007854	0.07229	T	-0.69733	0.00038	T	-0.771969	0.02704	T	0.00165964828280725	0.00017	T	0.451055	0.12757	T	0.019617142	0.00496	0.025068372	0.00541	0.019617142	0.00496	0.025068372	0.00540	-3.693	0.19215	T	.	.	0.061	0.01059	B	.	.	-0.137639	0.03423	0.624	0.69135119284529822	0.08876	0.10363	0.15890	N	AEFBI	0.039201	0.05659	N	-1.3727612571866	0.02896	0.1285443	-1.35911843885743	0.03700	0.1731067	0.0779509466719556	0.15773	0.706548	0.73137	0	0.653731	0.59785	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.67	-5.12	0.02674	-0.184000	0.09693	0.097000	0.14596	-0.050000	0.17177	0.216000	0.24491	0.005000	0.19230	0.917000	0.45243	0.1874:0.0886:0.3868:0.3372	3.38	0.06829	777	0.48198	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1836.98	34	chr10	7964303	.	A	G	1836.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.480e-01;DP=818;ExcessHet=0.0000;FS=2.373;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.18;ReadPosRankSum=0.452;SOR=0.953	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1085	20	0	1	0
chr10	11018120	11018120	C	T	exonic	CELF2	.	nonsynonymous SNV	CELF2:NM_001326340:exon1:c.C31T:p.P11S	.	.	416	1101	5	0	0	5	0.00226552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.963	D	0.346	B	.	.	1.000	D	0.55	N	-0.36	T	-0.893	T	0.159	T	0.196	2.705	15.01	3.03	1.406	2.785	14.388	0.170	0.701927002572	.	.	4.319e-05	0	0	0	0	1.579e-05	0.0012	0.0002	3.23e-05	5	154602	rs375248006	4.321e-05	4.583e-05	3.354e-05	5.296e-05	0.0026	3.403e-05	3.115e-05	0.0016	0.0012	0	2.939e-05	0	0	0	0.0026	2.544e-05	0.0001	0.0001	2.639e-05	2.627e-05	3.868e-05	1.351e-05	0.0001	8.17e-06	5.16e-06	2.271e-05	9.11e-06	0	0	0.0001	0	0	0	0	2.947e-05	0	0	0.0	0.91255	D	0.333	0.18395	T	0.963	0.55692	D	0.346	0.42645	B	.	.	.	.	1	0.81001	D	.	.	.	-0.36	0.68754	T	-0.31	0.12099	N	0.363	0.42050	-0.8929	0.48677	T	0.159	0.49195	T	9	0.34380776	0.51386	T	0.701927	0.97562	D	0.170	0.43303	0.548	0.66296	0.436121992451	0.43229	0.5489377395832935	0.54819	.	.	0.903862893581	0.96857	D	.	.	.	-0.245634	0.14638	T	-0.311178	0.43532	T	0.207208750355084	0.20807	T	0.983368	0.94382	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266	0.59986	B	.;.;.	.;.;.	3.608286	0.50997	23.0	0.99610420585480441	0.74753	0.69500	0.34212	D	AEFDBHCIJ	0.364721	0.45316	N	-0.138070849526641	0.35744	2.056985	-0.138622804529143	0.33850	1.940646	0.999999999987414	0.74766	0.72623	0.87236	0	0.552344	0.17405	0	0.594344	0.31042	0	0.372554	0.06265	0	.	.	3.03	3.03	0.34070	2.941000	0.48703	3.496000	0.38747	0.366000	0.20181	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	14.388	0.66527	891	0.26808	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1813.98	34	chr10	11018120	.	C	T	1813.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.592;DP=867;ExcessHet=0.0000;FS=2.659;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=0.031;SOR=0.514	GT:AD:DP:GQ:PL	0/1:89,82:171:99:1828,0,2006	20	0	1	0
chr10	11755609	11755609	G	A	splicing	ECHDC3	NM_024693:exon4:c.591+1G>A	.	.	.	.	412	1103	7	0	0	7	0.00316313	1.0000	0.89	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.315	17.14	4.39	1.207	9.593	14.952	.	.	.	0.000798722	0.0006	0	0	0	0	0.0002	0	0.0030	0.0004592	71	154602	rs200347426	0.0003	0.0003	0.0002	0.0004	0.0030	0.0002	0.0002	0.0027	0.0026	0	0	0.0002	0	0	0.0014	7.564e-05	0.0005	0.0030	0.0002	0.0002	0.0001	0.0002	0.0021	0.0001	9.232e-05	0.0011	0.0009	4.811e-05	0	6.535e-05	0	0	0	0.0034	0.0001	0.0005	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.150078	0.28300	T	0.00765586	0.70832	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.531004	0.91870	32	0.97653805563648588	0.35155	0.93494	0.58370	D	AEFDBHCI	.	.	.	0.889784818367901	0.91249	10.790	0.720016191639193	0.83901	8.144262	0.999956599794708	0.48110	0.162113	0.03585	0	0.18701	0.04157	0	0.175069	0.04249	0	0.24566	0.04862	0	0.850128	0.51682	5.31	4.39	0.52211	9.724000	0.98010	9.909000	0.82412	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.858000	0.40661	0.0:0.1438:0.8562:0.0	14.952	0.70730	934	0.15400	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	703.98	64	chr10	11755609	.	G	A	703.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.127;DP=1261;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.39;ReadPosRankSum=0.829;SOR=0.776	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	20	0	1	0
chr10	11869742	11869742	C	T	exonic	PROSER2	.	nonsynonymous SNV	PROSER2:NM_153256:exon4:c.C644T:p.S215F,	.	.	433	1076	12	1	0	14	0.00646353	.	.	701203	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.992	D	0.200	N	1.000	N	1.585	L	2.94	T	-1.098	T	0.059	T	0.219	2.038	12.77	4.36	1.175	3.014	8.478	0.095	.	0.0013	0.000798722	0.0039	0.0007	0.0014	0	0	0.0055	0.0142	0.0030	0.0016171	250	154602	rs202165239	0.0019	0.0019	0.0018	0.0020	0.0141	0.0018	0.0018	0.0116	0.0107	0.0007	0.0015	0.0101	2.623e-05	0.0005	0.0141	0.0017	0.0030	0.0016	0.0015	0.0015	0.0016	0.0015	0.0020	0.0014	0.0013	0.0017	0.0016	0.0008	0	0.0014	0.0069	0	0.0002	0.0068	0.0020	0.0024	0.0017	0.003	0.78490	D	0.019	0.69154	D	1.0	0.90584	D	0.992	0.80445	D	0.199891	0.16627	N	0.577811	1	0.08975	N	1.935	0.51832	L	2.94	0.09728	T	-4.17	0.75456	D	0.363	0.40465	-1.0979	0.04354	T	0.059	0.24834	T	10	0.0041597784	0.00082	T	.	.	.	0.095	0.27398	.	.	0.235038932564	0.23097	0.5359679039050605	0.53521	0.563577242842	0.52783	0.45169839263	0.32176	T	0.161999	0.50924	T	-0.522592	0.00425	T	-0.528991	0.19387	T	0.0587870695192566	0.06975	T	0.678032	0.28700	T	0.11915857	0.28061	0.12752092	0.30696	0.11915857	0.28061	0.12752092	0.30695	-5.742	0.44066	T	.	.	0.18	0.44501	B	.;.;.	.;.;.	2.885363	0.38196	20.7	0.99623531757544137	0.75594	0.59199	0.30849	D	AEFBCI	0.144572	0.26757	N	0.0895070835867669	0.45974	2.845134	-0.0541702527094756	0.37310	2.18283	0.999990852442698	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.584781	0.30282	0	0.699875	0.68795	0	.	.	5.29	4.36	0.51643	3.377000	0.52156	3.797000	0.39853	0.465000	0.21702	0.189000	0.24175	0.995000	0.32472	0.007000	0.07825	0.0:0.7625:0.1562:0.0813	8.478	0.32186	917	0.20147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3458.11	130	chr10	11869742	.	C	T	3458.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.18;DP=1097;ExcessHet=0.1072;FS=0.896;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=0.458;SOR=0.761	GT:AD:DP:GQ:PL	0/0:66,0:66:99:0,120,1800	19	0	2	0
chr10	11952138	11952138	T	C	exonic	UPF2	.	nonsynonymous SNV	UPF2:NM_015542:exon15:c.A2962G:p.K988E	.	.	444	1077	1	0	0	1	0.000464037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.442	B	0.029	B	0.000	D	1.000	D	1.995	M	0.78	T	-0.958	T	0.122	T	0.521	2.829	15.42	5.22	2.101	3.818	15.380	0.138	0.0101012543804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.045	0.49390	D	0.442	0.35927	B	0.029	0.21540	B	0.000001	0.84330	D	0.053599	0.999212	0.81001	D	1.975	0.53506	M	0.78	0.49358	T	-2.15	0.48687	N	0.504	0.53620	-0.9581	0.39534	T	0.122	0.42293	T	10	0.35982198	0.52641	T	0.010101	0.26235	T	0.138	0.37187	0.43	0.47843	0.651350520813	0.64845	0.26331739593153514	0.26244	0.897491480537	0.70508	0.699629426003	0.67090	T	0.14495	0.48183	T	-0.0415993	0.45711	T	-0.297531	0.44985	T	0.684527933597565	0.39995	D	0.967403	0.88196	D	0.45836252	0.64569	0.37356398	0.62540	0.45836252	0.64570	0.37356398	0.62540	-9.292	0.69557	D	.	.	0.377	0.59285	A	.;.;.	.;.;.	3.964255	0.58165	23.9	0.99771481501527071	0.85918	0.93125	0.57392	D	AEFBI	0.415510	0.48434	N	0.125002330975397	0.47630	2.986132	0.239401120904388	0.52048	3.382454	0.991398492457592	0.32474	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.22	5.22	0.72285	3.784000	0.55122	7.846000	0.70742	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.380	0.74369	884	0.28482	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1335.98	33	chr10	11952138	.	T	C	1335.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.309e+00;DP=862;ExcessHet=0.0000;FS=1.272;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.73;ReadPosRankSum=0.189;SOR=0.790	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1142	20	0	1	0
chr10	12001769	12001769	C	G	exonic	UPF2	.	nonsynonymous SNV	UPF2:NM_015542:exon6:c.G1561C:p.E521Q	.	.	441	1077	4	0	0	4	0.00185357	.	.	701215	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.36	T	0.241	B	0.136	B	0.000	D	1.000	D	1.39	L	1.97	T	-1.116	T	0.040	T	0.33	3.169	16.60	5.41	2.706	6.985	19.153	0.055	0.0115735380545	0.0052	0.00179712	0.0047	0.0012	0.0024	0	0.0009	0.0075	0.0023	0.0014	0.0046765	723	154602	rs118004016	0.0061	0.0061	0.0062	0.0059	0.0073	0.0060	0.0059	0.0071	0.0071	0.0010	0.0024	0.0054	0	0.0017	0.0026	0.0073	0.0053	0.0009	0.0039	0.0040	0.0044	0.0035	0.0069	0.0037	0.0036	0.0064	0.0062	0.0014	0	0.0018	0.0063	0.0002	0.0009	0	0.0069	0.0028	0.0010	0.135	0.26192	T	0.102	0.38450	T	0.155	0.28155	B	0.064	0.27215	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	1.97	0.22067	T	-1.37	0.33998	N	0.276	0.31365	-1.1157	0.02622	T	0.040	0.17277	T	10	0.008239508	0.00187	T	0.011574	0.29327	T	0.055	0.15663	.	.	0.445544589891	0.44177	0.41234901816517877	0.41150	0.659821582233	0.58827	0.677614569664	0.63926	T	0.048488	0.28032	T	-0.442075	0.01257	T	-0.403641	0.32960	T	0.0393251865609451	0.03568	T	0.911809	0.68723	D	0.2728143	0.50350	0.18171048	0.41052	0.2728143	0.50350	0.18171048	0.41051	-5.506	0.41923	T	.	.	0.375	0.58126	A	.;.;.	.;.;.	3.952703	0.57923	23.9	0.99422475987950754	0.63838	0.99389	0.95397	D	AEFBI	0.719506	0.67037	D	0.159163047645419	0.49246	3.127194	0.329092725220834	0.57255	3.89066	0.999995406938031	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.41	5.41	0.78313	6.821000	0.75062	6.001000	0.52488	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.153	0.93480	616	0.66398	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1080.98	35	chr10	12001769	.	C	G	1080.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.390e-01;DP=794;ExcessHet=0.0000;FS=3.498;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.92;ReadPosRankSum=-8.200e-02;SOR=0.439	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1142	20	0	1	0
chr10	12029121	12029121	G	A	exonic	UPF2	.	nonsynonymous SNV	UPF2:NM_015542:exon3:c.C769T:p.P257S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.879	P	0.473	P	0.000	D	1.000	D	0.385	N	2.09	T	-1.100	T	0.043	T	0.607	0.533	6.885	6.17	2.941	7.817	20.879	0.297	0.0184425757539	7.7e-05	.	0.0002	0	0	0	0	0.0003	0	0	0.0001552	24	154602	rs374406706	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0002	2.987e-05	0	0	0	5.617e-05	0	0.0002	0.0001	3.478e-05	5.256e-05	5.253e-05	8.993e-05	1.345e-05	0.0001	2.557e-05	1.83e-05	5.841e-05	4.238e-05	0	0	0	0	0	0	0	0.0001	0	0	0.647	0.04897	T	0.89	0.03134	T	0.032	0.20242	B	0.033	0.22329	B	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.1	0.04694	N	2.09	0.20122	T	0.34	0.03824	N	0.409	0.44952	-1.0998	0.04116	T	0.043	0.18410	T	10	0.13761097	0.26177	T	0.018443	0.40505	T	0.297	0.61730	.	.	0.494858889337	0.49121	0.35041855544437434	0.34955	0.774521678833	0.64954	0.777044534683	0.78483	T	0.044022	0.26686	T	-0.272448	0.11486	T	-0.334295	0.40989	T	0.15205261657167	0.17266	T	0.936706	0.76258	D	0.21066695	0.43370	0.12137094	0.29284	0.21066695	0.43370	0.12137094	0.29283	-5.789	0.44478	T	.	.	0.262	0.49807	B	.;.;.	.;.;.	3.719892	0.53157	23.3	0.66195867220357851	0.07988	0.98881	0.88103	D	AEFBI	0.860694	0.77861	D	0.205700478662028	0.51475	3.328421	0.41175334951318	0.62295	4.44267	0.999999424193269	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	7.735000	0.83874	11.902000	0.99384	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.879	0.99870	617	0.66297	MIF4G-like, type 3|MIF4G-like, type 3;MIF4G-like, type 3|MIF4G-like, type 3;MIF4G-like, type 3|MIF4G-like, type 3	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2061.98	33	chr10	12029121	.	G	A	2061.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=855;ExcessHet=0.0000;FS=5.927;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.66;ReadPosRankSum=1.17;SOR=0.630	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1208	20	0	1	0
chr10	12081526	12081526	C	G	exonic	DHTKD1	.	nonsynonymous SNV	DHTKD1:NM_018706:exon2:c.C209G:p.A70G,	2-aminoadipic 2-oxoadipic aciduria, Autosomal recessive	.	9	1495	18	0	0	18	0.00598404	.	.	701217	not_specified|2-aminoadipic_2-oxoadipic_aciduria|not_provided	MedGen:CN169374|MONDO:MONDO:0008774,MedGen:C1859817,OMIM:204750,Orphanet:79154|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.36	T	0.59	P	0.334	B	0.000	D	1.000	D	1.265	L	3.46	T	-1.127	T	0.037	T	0.463	1.654	11.49	3.97	1.040	5.454	15.127	0.150	.	0.0059	0.00319489	0.0045	0.0017	0.0040	0.0002	0.0005	0.0068	0.0066	0.0012	0.0047024	727	154602	rs34644609	0.0062	0.0062	0.0063	0.0062	0.0072	0.0061	0.0061	0.0071	0.0070	0.0010	0.0049	0.0097	0	0.0003	0.0052	0.0072	0.0064	0.0015	0.0045	0.0044	0.0048	0.0041	0.0067	0.0042	0.0041	0.0062	0.0060	0.0014	0.0011	0.0060	0.0110	0	0	0.0102	0.0067	0.0085	0.0021	0.293	0.15251	T	0.368	0.41074	T	0.59	0.39078	P	0.334	0.42203	B	0.000001	0.84330	D	0.055008	0.999923	0.51308	D	2.56	0.74772	M	3.46	0.19588	T	-1.78	0.49519	N	0.702	0.70615	-1.1268	0.01941	T	0.037	0.15770	T	10	0.01060316	0.00235	T	.	.	.	0.150	0.39571	.	.	0.178374595973	0.17440	0.594701007844174	0.59400	0.118844224219	0.13383	0.668209910393	0.62583	T	0.009565	0.08705	T	-0.423215	0.01632	T	-0.372734	0.36569	T	0.0399143560601765	0.03674	T	0.959004	0.84537	D	0.46467647	0.64962	0.1924132	0.42753	0.47325695	0.65491	0.21461187	0.46017	-8.049	0.61404	D	0.20985722730014325	0.28104	0.187	0.49235	B	.;.	.;.	3.350464	0.46210	22.3	0.98523066238093404	0.42496	0.96894	0.71520	D	AEFDBI	0.738985	0.68369	D	-0.172164113216224	0.34296	1.955906	-0.129579179907513	0.34203	1.964862	0.999587962023971	0.40607	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.674467	0.66132	0	.	.	4.88	3.97	0.45241	5.573000	0.67117	5.742000	0.49579	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.8578:0.1422:0.0	15.127	0.72166	627	0.65350	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1855.98	33	chr10	12081526	.	C	G	1855.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.440e+00;DP=911;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.98;ReadPosRankSum=-3.300e-01;SOR=0.671	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1265	20	0	1	0
chr10	12106381	12106381	A	T	exonic	DHTKD1	.	nonsynonymous SNV	DHTKD1:NM_018706:exon11:c.A2032T:p.T678S,	2-aminoadipic 2-oxoadipic aciduria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.664	P	0.794	P	0.000	D	1.000	D	2.47	M	-2.81	D	0.809	D	0.834	D	0.74	5.031	29.7	6.01	2.315	6.656	15.150	0.766	0.0948513385542	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1046306649	5.472e-06	5.472e-06	2.722e-06	8.25e-06	8.115e-05	2.35e-06	1.7e-06	3.765e-05	2.662e-05	0	0	0	0	0	0	0	1.656e-05	8.115e-05	6.567e-06	6.561e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.02	0.49613	D	0.17	0.30436	T	0.664	0.41009	P	0.794	0.57880	P	0.000006	0.62929	D	0.142305	1	0.81001	D	2.515	0.73286	M	-2.81	0.91134	D	-2.97	0.61865	D	0.682	0.68863	0.809	0.94519	D	0.834	0.94426	D	10	0.81032	0.80323	D	0.094851	0.76324	D	0.766	0.92087	0.684	0.82175	0.876408640116	0.87519	0.7382412097490221	0.73769	0.471083547616	0.46372	0.796892285347	0.81490	T	0.434891	0.78182	T	0.196943	0.73606	D	0.141973	0.79673	D	0.847471009517919	0.49948	D	0.847115	0.52772	T	0.588012	0.72043	0.5374809	0.73271	0.588012	0.72044	0.5374809	0.73272	-9.105	0.68369	D	0.4952354309885194	0.57139	0.217	0.44720	B	.	.	4.540023	0.71347	25.7	0.99676329086467086	0.78912	0.97739	0.76783	D	AEFDBI	0.870522	0.79152	D	0.671443339521415	0.77763	6.737482	0.700852329393532	0.82441	7.76826	0.999998477149855	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.01	6.01	0.97420	6.649000	0.74216	7.044000	0.57347	0.738000	0.86027	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	1.0:0.0:0.0:0.0	15.150	0.72369	819	0.41190	Transketolase-like, pyrimidine-binding domain|Transketolase-like, pyrimidine-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	696.98	38	chr10	12106381	.	A	T	696.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.269;DP=864;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=-2.074e+00;SOR=0.683	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr10	12196292	12196292	C	T	exonic	CDC123	.	nonsynonymous SNV	CDC123:NM_006023:exon1:c.C47T:p.P16L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.997	D	0.838	P	0.000	D	1.000	D	3.31	M	.	.	0.268	D	0.525	D	0.711	5.200	33	4.58	2.537	5.579	16.672	0.461	0.0471228851979	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1312610274	5.473e-06	5.472e-06	2.723e-06	8.251e-06	8.116e-05	2.35e-06	1.7e-06	3.766e-05	2.662e-05	0	0	0	0	0	0	0	1.656e-05	8.116e-05	6.574e-06	6.562e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.004	0.72154	D	0.007	0.69154	D	0.997	0.70673	D	0.838	0.60045	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.62	0.93917	H	.	.	.	-7.14	0.94073	D	0.646	0.76019	0.268	0.87042	D	0.525	0.82317	D	9	0.78678954	0.78315	D	0.047123	0.62778	D	0.461	0.75822	0.585	0.71245	0.653306318995	0.65041	0.6422974762128102	0.64164	1.18624796174	0.80151	0.648078918457	0.59713	T	0.422547	0.77359	T	0.172647	0.71366	D	0.107073	0.77379	D	0.998227655887604	0.93561	D	0.918208	0.78806	D	0.56514347	0.70793	0.69067085	0.81798	0.56514347	0.70794	0.69067085	0.81799	-10.018	0.74020	D	.	.	0.244	0.66432	B	.;.;.;.	.;.;.;.	5.684224	0.93019	33	0.99871370566642215	0.94902	0.65579	0.32785	D	ALL	0.792818	0.72100	D	0.793678820055033	0.85710	8.657586	0.716613646544012	0.83641	8.075182	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.58	4.58	0.56077	5.339000	0.65724	5.908000	0.50981	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.672	0.85128	702	0.57624	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1493.98	33	chr10	12196292	.	C	T	1493.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.200e-01;DP=875;ExcessHet=0.0000;FS=1.966;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.28;ReadPosRankSum=0.458;SOR=0.606	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	20	0	1	0
chr10	12998442	12998442	-	T	exonic	CCDC3	.	frameshift insertion	CCDC3:NM_031455:exon2:c.444dupA:p.E149Rfs*8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	753.94	35	chr10	12998442	.	C	CT	753.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.000e-01;DP=786;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.57;ReadPosRankSum=-3.950e-01;SOR=0.598	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1248	20	0	1	0
chr10	13124076	13124076	G	A	exonic	OPTN	.	nonsynonymous SNV	OPTN:NM_021980:exon8:c.G964A:p.E322K	Amyotrophic lateral sclerosis 12;Glaucoma 1, open angle, E, Autosomal dominant	.	0	1514	8	0	0	8	0.00263505	.	.	692808	Amyotrophic_lateral_sclerosis_type_12|Primary_open_angle_glaucoma|Glaucoma_1,_open_angle,_E|not_provided	MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435,Orphanet:803|MONDO:MONDO:0100553,MedGen:C0339573,OMIM:137760|MedGen:C1842026|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs386741044	0.0012	0.0012	0.0012	0.0012	0.0225	0.0012	0.0011	0.0212	0.0207	0.0225	0.0015	0.0124	2.521e-05	0.0003	0.0052	0.0003	0.0033	0.0005	0.0068	0.0068	0.0067	0.0068	0.0214	0.0064	0.0063	0.0203	0.0198	0.0214	0	0.0022	0.0130	0	0.0002	0.0136	0.0005	0.0085	0.0010	.	.	.	0.05	0.48594	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.506	0.67650	.	.	.	.	.	.	.	0.025428891	0.00737	T	.	.	.	.	.	.	.	.	.	0.32064790623952627	0.31977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.806819	0.45619	T	.	.	.	.	.	.	.	.	-5.626	0.43862	T	0.4996042723260664	0.57505	0.257	0.49216	B	.;.;.;.;.;.	.;.;.;.;.;.	5.267881	0.88451	29.6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.997000	0.87980	9.974000	0.82880	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	.	.	.	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	749.98	37	chr10	13124076	.	G	A	749.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.637;DP=744;ExcessHet=0.0000;FS=2.118;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=-3.170e-01;SOR=1.005	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1268	20	0	1	0
chr10	13288437	13288437	G	C	exonic	PHYH	.	nonsynonymous SNV	PHYH:NM_001037537:exon5:c.C301G:p.R101G	Refsum disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	314641	not_provided|Phytanic_acid_storage_disease	MedGen:C3661900|MONDO:MONDO:0009958,MedGen:C0034960,OMIM:266500,Orphanet:773	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.21	T	0.999	D	0.975	D	0.000	D	0.933	N	3.08	M	-2.57	D	0.306	D	0.806	D	0.816	2.015	12.69	-0.669	0.006	1.002	13.439	0.542	0.0993465961316	0.0012	0.000199681	0.0014	0.0004	8.648e-05	0	0.0020	0.0022	0.0011	0.0004	0.0013583	210	154602	rs143957922	0.0019	0.0019	0.0019	0.0018	0.0022	0.0018	0.0018	0.0022	0.0021	0.0001	2.236e-05	3.826e-05	0	0.0026	0.0002	0.0022	0.0015	0.0003	0.0010	0.0010	0.0011	0.0008	0.0018	0.0009	0.0008	0.0015	0.0014	0.0004	0	0	0	0	0.0011	0	0.0018	0	0.0002	0.017	0.63226	D	0.04	0.64786	D	0.999	0.77913	D	0.975	0.73362	D	0.000034	0.55875	D	0.150191	0.932771	0.27012	N	3.21	0.89262	M	-2.57	0.89692	D	-6.47	0.91479	D	0.664	0.67304	0.306	0.87650	D	0.806	0.93429	D	10	0.13469324	0.25633	T	0.099347	0.77093	D	0.542	0.80901	.	.	0.937124685867	0.93647	0.8031427869263197	0.80268	0.675857842876	0.59733	0.335208117962	0.15719	T	0.911004	0.98324	D	-0.0500336	0.44441	T	0.149496	0.80150	D	0.235261380672455	0.22200	T	0.916508	0.87416	D	0.9197376	0.93222	0.7451428	0.84936	0.9197376	0.93223	0.7451428	0.84937	-9.152	0.74252	D	0.688560875569417	0.76596	0.232	0.53285	B	.;.;.;.;.	.;.;.;.;.	2.664590	0.34721	19.71	0.99375788900548867	0.61671	0.63434	0.32088	D	AEFDGBHCI	0.513662	0.54136	D	0.0910732525180434	0.46047	2.85122	-0.133182562409188	0.34063	1.955179	0.999998133325347	0.74766	0.706298	0.61202	0	0.623108	0.53289	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.69	-0.669	0.10815	1.059000	0.30127	0.372000	0.17687	0.569000	0.28856	1.000000	0.71638	0.019000	0.20708	0.030000	0.13115	0.0:0.0884:0.4045:0.5071	13.439	0.60552	934	0.15400	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	940.98	87	chr10	13288437	.	G	C	940.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.94;DP=820;ExcessHet=0.0000;FS=1.761;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.82;ReadPosRankSum=-1.490e-01;SOR=0.970	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1095	20	0	1	0
chr10	13694015	13694015	G	T	exonic	FRMD4A	.	nonsynonymous SNV	FRMD4A:NM_001318338:exon4:c.C73A:p.L25M	.	.	.	.	.	.	.	.	.	.	.	2755394	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.18	T	0.999	D	0.984	D	0.000	D	1.000	D	2.175	M	-1.69	D	0.307	D	0.668	D	0.636	3.912	19.90	4.4	1.226	3.815	13.849	0.584	0.0476570238316	0.0003	.	5.447e-05	0.0006	0	0	0	0	0	0	3.88e-05	6	154602	rs141316396	2.48e-05	2.599e-05	3.152e-05	1.784e-05	0.0010	1.785e-05	1.575e-05	0.0007	0.0006	0.0010	0	0	0	0	0	0	7.095e-05	0	0.0002	0.0002	0.0003	0.0002	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	0.0001	0	0	0	0	0	0.0010	0	0.015	0.61437	D	0.018	0.61642	D	0.999	0.77913	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.545	0.39105	L	-1.69	0.82985	D	-1.14	0.29323	N	0.547	0.57348	0.307	0.87663	D	0.668	0.88497	D	10	0.29706353	0.47268	T	0.047657	0.63020	D	0.584	0.83305	.	.	0.739567227708	0.73723	0.523723182046493	0.52296	2.01023712014	0.93908	0.886986851692	0.94879	D	0.040847	0.25662	T	-0.145845	0.28963	T	-0.0414646	0.67603	D	0.103788912748171	0.12769	T	0.878412	0.63049	D	0.2439769	0.47342	0.18498772	0.41585	0.2439769	0.47341	0.18498772	0.41584	-12.431	0.86888	D	.	.	0.402	0.59694	A	.;.;.;.	.;.;.;.	4.736587	0.76341	26.5	0.99637974860958078	0.76449	0.94643	0.61838	D	AEFDBHCI	0.593590	0.58885	D	0.508256839925504	0.67576	5.100182	0.459106449349537	0.65305	4.806877	0.99999999249618	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.31	4.4	0.52402	3.277000	0.51358	8.564000	0.77578	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.772000	0.36596	0.0743:0.0:0.9257:0.0	13.849	0.62980	677	0.60274	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.04762	5309.08	35	chr10	13694015	.	G	T	5309.08	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.12;DP=945;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=28.85;ReadPosRankSum=-1.262e+00;SOR=0.276	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1509	20	1	0	0
chr10	13971769	13971769	G	T	exonic	FRMD4A	.	nonsynonymous SNV	FRMD4A:NM_001318337:exon1:c.C31A:p.P11T,	.	.	422	1048	50	2	0	54	0.0251163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.004	B	0.004	B	.	.	1.000	N	.	.	-1.68	D	-0.729	T	0.279	T	0.057	-0.652	1.133	1.84	0.060	1.058	5.740	0.136	.	.	0.00998403	0.0085	0.0215	0.0069	0	0	0.0126	0	0.0067	0.0019922	308	154602	rs115396302	0.0043	0.0034	0.0042	0.0044	0.0347	0.0042	0.0042	0.0302	0.0285	0.0240	0.0046	0.0201	0.0002	0.0004	0.0347	0.0033	0.0076	0.0055	0.0097	0.0097	0.0098	0.0095	0.0213	0.0093	0.0091	0.0201	0.0197	0.0213	0.0428	0.0075	0.0173	0.0002	0.0004	0.0238	0.0046	0.0080	0.0065	0.722	0.03903	T	0.404	0.14818	T	0.004	0.12183	B	0.004	0.10090	B	.	.	.	.	0.999954	0.19072	N	.	.	.	-1.68	0.82897	D	0.33	0.03889	N	.	.	-0.7291	0.59009	T	0.279	0.65089	T	8	0.002155006	0.00031	T	.	.	.	0.136	0.36778	.	.	0.21174354426	0.20776	.	.	.	.	.	.	.	.	.	.	-0.503725	0.00545	T	-0.477419	0.24722	T	0.00162334610149057	0.00016	T	0.381362	0.09225	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00444	B	.	.	0.790707	0.11611	8.200	0.46892109152217065	0.03791	0.24268	0.22340	N	AEFBIJ	0.162317	0.28847	N	-0.770556285557363	0.14081	0.6986147	-0.814105881477307	0.14155	0.7381071	0.999721840232055	0.42220	0.45559	0.09716	2	0.37387	0.05907	3	0.491513	0.07944	0	0.631631	0.49550	0	.	.	4.89	1.84	0.24348	0.983000	0.29150	-0.096000	0.11999	0.672000	0.70159	0.255000	0.24900	0.000000	0.08366	0.043000	0.14563	0.2286:0.337:0.4344:0.0	5.740	0.17355	981	0.03995	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	1459.98	34	chr10	13971769	.	G	T	1459.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.044e+00;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=0.439;SOR=0.743	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1455	20	0	1	0
chr10	14774379	14774379	G	C	exonic	FAM107B	.	nonsynonymous SNV	FAM107B:NM_031453:exon1:c.C285G:p.H95Q,	.	.	435	1053	30	4	0	38	0.0177239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.039	B	0.025	B	0.409	N	0.946	N	0.345	N	0.95	T	-1.044	T	0.034	T	0.05	0.347	5.881	-1.32	-0.429	-0.044	0.470	0.096	.	0.0052	0.00499201	0.0078	0.0024	0.0060	0.0002	0.0042	0.0099	0.0143	0.0090	0.0074579	1153	154602	rs144131218	0.0071	0.0071	0.0071	0.0072	0.0257	0.0070	0.0070	0.0223	0.0210	0.0026	0.0057	0.0210	5.038e-05	0.0051	0.0257	0.0071	0.0088	0.0088	0.0058	0.0058	0.0057	0.0058	0.0077	0.0054	0.0053	0.0069	0.0067	0.0021	0.0066	0.0063	0.0176	0.0004	0.0046	0.0306	0.0075	0.0099	0.0077	0.01	0.56456	D	0.013	0.63109	D	0.039	0.21116	B	0.025	0.20508	B	0.409184	0.13020	N	0.659654	1	0.08975	N	.	.	.	0.95	0.43279	T	-0.34	0.12661	N	0.089	0.06720	-1.0440	0.16118	T	0.034	0.14552	T	10	0.0039682686	0.00076	T	.	.	.	0.096	0.27654	0.069	0.00373	0.0401082797425	0.02173	0.045393378275196114	0.04483	0.137498292665	0.15505	0.269615024328	0.06091	T	.	.	.	-0.661509	0.00061	T	-0.716307	0.04976	T	0.00527193897329937	0.00057	T	0.29867	0.05569	T	.	.	.	.	.	.	.	.	-2.665	0.07014	T	.	.	0.093	0.14015	B	.	.	0.433597	0.08038	4.760	0.46671962577178489	0.03756	0.10494	0.15985	N	AEFBI	0.085575	0.17348	N	-1.29361667126291	0.03751	0.1681429	-1.30599892829859	0.04352	0.2050923	1.49545221312901E-5	0.02871	0.446893	0.09132	0	0.563428	0.19063	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	5.23	-1.32	0.08721	-0.031000	0.12237	1.301000	0.25475	-0.818000	0.02990	0.193000	0.24225	0.898000	0.27928	0.001000	0.02609	0.3458:0.1249:0.2687:0.2606	0.470	0.00494	944	0.12746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2307.98	33	chr10	14774379	.	G	C	2307.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.53;DP=890;ExcessHet=0.0000;FS=1.720;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.20;ReadPosRankSum=0.788;SOR=0.855	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1088	20	0	1	0
chr10	14842363	14842363	G	T	exonic	LOC100421372	.	nonsynonymous SNV	LOC100421372:NM_001378785:exon4:c.G79T:p.A27S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43139824	0.57514	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732589960098	0.71885	T	.	.	.	.	.	.	.	.	.	.	.	.	0.59564	0.22108	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.34819	B	.	.	3.194998	0.43421	21.7	0.88537950763593654	0.18056	0.82531	0.41745	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999993239205	0.74766	0.256867	0.04430	0	0.158463	0.03841	0	0.320204	0.05785	0	0.221052	0.04502	0	0.979908	0.84815	6.06	6.06	0.98340	4.838000	0.62495	11.895000	0.99196	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	16.125	0.81192	824	0.40336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	35.7	53	chr10	14842363	.	G	T	35.7	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-9.670e-01;DP=53;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=0.125;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	./.	7	0	1	13
chr10	14908583	14908583	-	T	exonic	DCLRE1C	.	frameshift insertion	DCLRE1C:NM_001289076:exon12:c.1558dupA:p.S520Kfs*6	Omenn syndrome, Autosomal recessive;Severe combined immunodeficiency, Athabascan type, Autosomal recessive	.	0	1515	7	0	0	7	0.00230491	.	.	460187	Histiocytic_medullary_reticulosis|Severe_combined_immunodeficiency_due_to_DCLRE1C_deficiency|not_provided|not_specified	MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554,Orphanet:39041|MONDO:MONDO:0011225,MedGen:C1865370,OMIM:602450,Orphanet:275|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0004	9.634e-05	8.639e-05	0	0	0.0004	0.0011	0.0010	0.000304	47	154602	rs772947736	0.0002	0.0002	0.0002	0.0003	0.0029	0.0002	0.0002	0.0019	0.0015	2.987e-05	0.0002	0.0017	0	0	0.0029	0.0001	0.0008	0.0011	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	2.407e-05	0	0.0003	0.0017	0	0	0.0034	0.0003	0.0009	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4604.94	42	chr10	14908583	.	C	CT	4604.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.47;DP=1208;ExcessHet=0.0000;FS=2.126;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=-8.060e-01;SOR=0.593	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1620	20	0	1	0
chr10	14908710	14908710	G	C	exonic	DCLRE1C	.	nonsynonymous SNV	DCLRE1C:NM_001289076:exon12:c.C1432G:p.Q478E	Omenn syndrome, Autosomal recessive;Severe combined immunodeficiency, Athabascan type, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.007	B	0.018	B	0.092	N	1.000	D	2.045	M	1.83	T	-0.991	T	0.074	T	0.145	2.128	13.07	3.09	0.388	3.001	12.720	0.061	0.0112720859889	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.006	0.14184	B	0.018	0.18489	B	0.091744	0.20309	N	0.464654	0.753722	0.81001	D	2.565	0.75005	M	1.83	0.24841	T	-0.69	0.41046	N	0.262	0.34120	-0.9905	0.32475	T	0.074	0.29739	T	10	0.11138207	0.20855	T	0.011272	0.28723	T	0.061	0.17616	0.324	0.30549	0.162503812791	0.15892	0.22021313540207138	0.21937	0.0953587799458	0.10770	0.319591164589	0.13359	T	0.175356	0.52491	T	-0.163187	0.26271	T	-0.472183	0.25281	T	0.599336326122284	0.36374	D	0.717528	0.33029	T	0.20613658	0.42778	0.21629333	0.46251	0.20613658	0.42778	0.21629333	0.46250	-2.44	0.05514	T	0.1596466603897028	0.19424	0.067	0.03162	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.135607	0.27195	17.38	0.98373524023164716	0.40770	0.94142	0.60239	D	AEFGBCI	0.269867	0.38605	N	-0.379349038958607	0.26205	1.428462	-0.291925089173545	0.28364	1.580934	0.990147298710468	0.32054	0.67177	0.52595	0	0.702456	0.74545	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	6.07	3.09	0.34677	2.939000	0.48687	5.012000	0.46677	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.922000	0.45779	0.0:0.2364:0.6407:0.1229	12.720	0.56509	531	0.73574	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	6175.98	42	chr10	14908710	.	G	C	6175.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.391;DP=1412;ExcessHet=0.0000;FS=1.094;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=0.717;SOR=0.758	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1620	20	0	1	0
chr10	15531114	15531114	G	T	exonic	ITGA8	.	nonsynonymous SNV	ITGA8:NM_001291494:exon27:c.C2873A:p.S958Y	Renal hypodysplasia/aplasia 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.995	D	0.925	D	0.000	D	1.000	D	2.61	M	0.7	T	-0.618	T	0.283	T	0.915	3.973	20.3	5.64	2.651	6.038	19.291	0.371	0.0322299829057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	1.0	0.01155	T	0.992	0.64738	D	0.844	0.60373	P	0.000001	0.84330	D	0.097385	0.999995	0.58761	D	2.995	0.85803	M	0.7	0.51474	T	-2.01	0.46337	N	0.815	0.81063	-0.6175	0.64092	T	0.283	0.65448	T	10	0.7597369	0.76254	D	0.03223	0.54110	D	0.371	0.69016	0.491	0.57732	0.749245134185	0.74698	0.7260352946655723	0.72547	0.364402611098	0.38057	0.59984010458	0.52882	T	0.249017	0.61891	T	0.250695	0.78665	D	0.122329	0.78389	D	0.986241459846497	0.77013	D	0.814918	0.46941	T	0.26229537	0.49291	0.25824144	0.51553	0.26229537	0.49290	0.25824144	0.51552	-7.871	0.60187	D	.	.	0.113	0.22171	B	.	.	4.477271	0.69822	25.4	0.99243928319909991	0.56630	0.95375	0.64475	D	AEFDI	0.844362	0.76133	D	0.600334295271863	0.73195	5.926809	0.607100491474067	0.75454	6.313436	0.931037545947649	0.27032	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.64	5.64	0.86480	6.476000	0.73497	8.589000	0.77679	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	19.291	0.94089	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	730.98	61	chr10	15531114	.	G	T	730.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.330e-01;DP=877;ExcessHet=0.0000;FS=5.223;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=-5.200e-01;SOR=1.414	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr10	15687977	15687977	C	G	exonic	ITGA8	.	nonsynonymous SNV	ITGA8:NM_001291494:exon3:c.G405C:p.W135C	Renal hypodysplasia/aplasia 1, Autosomal recessive	.	430	1089	3	0	0	3	0.00137552	.	.	3046802	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	1.0	D	0.000	D	1.000	D	3.12	M	0.34	T	-0.020	T	0.440	T	0.986	3.529	18.01	5.5	2.583	7.487	19.389	0.661	0.157037906406	.	0.000798722	0.0005	0	8.637e-05	0.0001	0	4.496e-05	0	0.0033	0.0004204	65	154602	rs554278300	0.0002	0.0002	9.668e-05	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	2.987e-05	4.472e-05	0	2.519e-05	0	0.0012	1.709e-05	0.0001	0.0030	0.0001	0.0001	8.994e-05	0.0001	0.0031	7.573e-05	6.278e-05	0.0019	0.0016	0	0	0	0	0	0	0.0034	2.94e-05	0	0.0031	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.575	0.93507	H	0.34	0.58176	T	-10.72	0.99165	D	0.966	0.97643	-0.0196	0.81847	T	0.440	0.77827	T	10	0.14854962	0.28129	T	0.157038	0.83770	D	0.661	0.87332	0.676	0.81398	0.818406873803	0.81670	0.9403884280014376	0.94019	0.516649995381	0.49549	0.818479061127	0.84795	D	0.817777	0.95512	D	0.022262	0.54688	T	0.254898	0.85854	D	0.390408255640855	0.28580	T	0.989401	0.96508	D	0.90881336	0.92184	0.8328991	0.90374	0.90881336	0.92185	0.8328991	0.90374	-12.073	0.85205	D	.	.	0.986	0.92379	P	.	.	5.265524	0.88415	29.6	0.99251908806527156	0.56891	0.98829	0.87402	D	AEFBI	0.944893	0.95253	D	0.825553101014075	0.87677	9.301142	0.742055710169593	0.85564	8.617785	0.999999999997117	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.5	5.5	0.81386	7.568000	0.81546	7.649000	0.63599	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:1.0:0.0:0.0	19.389	0.94560	836	0.38045	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	625.98	44	chr10	15687977	.	C	G	625.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.812;DP=935;ExcessHet=0.0000;FS=1.776;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.66;ReadPosRankSum=-3.260e-01;SOR=0.623	GT:AD:DP:GQ:PL	0/1:63,31:94:99:640,0,1530	20	0	1	0
chr10	15779012	15779012	G	A	exonic	MINDY3	.	nonsynonymous SNV	MINDY3:NM_001318330:exon14:c.C799T:p.R267C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.994	D	0.556	P	0.000	D	1.000	D	1.59	L	1.38	T	-1.042	T	0.111	T	0.803	4.018	20.6	5.48	2.559	6.337	14.216	0.157	0.0227730678116	7.7e-05	0.000199681	5.095e-05	0.0002	0	0.0002	0.0002	1.549e-05	0	0	4.53e-05	7	154602	rs377568966	1.027e-05	1.026e-05	1.498e-05	5.504e-06	0.0001	6.17e-06	4.89e-06	4.087e-05	2.376e-05	0.0001	0	0	0	9.369e-05	0	5.398e-06	0	0	6.568e-05	6.563e-05	7.711e-05	5.373e-05	0.0002	3.515e-05	2.615e-05	0.0001	8.436e-05	0.0002	0	0	0	0	0	0	1.47e-05	0	0	0.163	0.35165	T	0.168	0.30631	T	0.994	0.66517	D	0.556	0.49411	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.38	0.34050	T	-2.98	0.62008	D	0.42	0.49055	-1.0418	0.16770	T	0.111	0.39864	T	10	0.14334807	0.27217	T	0.022773	0.45688	T	0.157	0.40909	.	.	0.171220215726	0.16700	0.5743581190011825	0.57364	0.517718159117	0.49631	0.801096618176	0.82129	T	0.236213	0.60364	T	-0.118687	0.33338	T	-0.102285	0.63221	T	0.402363270521164	0.29031	T	0.972103	0.89869	D	0.19755289	0.41624	0.13937093	0.33255	0.19755289	0.41623	0.13937093	0.33254	-5.548	0.42315	T	.	.	0.131	0.40213	B	.;.	.;.	5.045794	0.84013	28.2	0.99903869418003677	0.97502	0.97369	0.74314	D	AEFBI	0.811237	0.73428	D	0.582689498683821	0.72094	5.752015	0.627147527660085	0.76920	6.58047	0.999985492070844	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	6.447000	0.73384	11.852000	0.98107	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.8507:0.1493	14.216	0.65339	895	0.25842	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1234.98	37	chr10	15779012	.	G	A	1234.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.504;DP=844;ExcessHet=0.0000;FS=0.779;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=1.64;SOR=0.853	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	20	0	1	0
chr10	15833683	15833683	G	A	exonic	MINDY3	.	nonsynonymous SNV	MINDY3:NM_001318330:exon7:c.C158T:p.T53M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	N	1.000	D	2.685	M	1.19	T	-0.506	T	0.250	T	0.656	4.058	20.8	4.84	1.426	9.054	14.754	0.455	0.09453396335	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs201352822	2.675e-05	2.736e-05	3.278e-05	2.067e-05	0.0005	2.003e-05	1.759e-05	0.0004	0.0003	5.995e-05	8.954e-05	0	0.0005	0	0	4.51e-06	3.32e-05	5.814e-05	5.259e-05	5.251e-05	3.858e-05	6.724e-05	0.0004	2.558e-05	1.831e-05	6.823e-05	2.855e-05	2.408e-05	0	0.0002	0	0.0004	0	0	1.471e-05	0	0.0002	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	N	0.043653	1	0.81001	D	.	.	.	1.19	0.37578	T	-4.97	0.83830	D	0.928	0.93252	-0.5057	0.68443	T	0.250	0.61969	T	10	0.6747147	0.70922	D	0.094534	0.76270	D	0.455	0.75415	.	.	0.257342827899	0.25358	0.7892098188687574	0.78872	0.600846760602	0.55152	0.835624277592	0.87426	D	0.366114	0.73142	T	-0.049864	0.44470	T	-0.0837008	0.64632	T	0.920954167842865	0.58037	D	0.914409	0.69449	D	0.62232244	0.73888	0.565358	0.74843	0.62232244	0.73889	0.565358	0.74844	-9.034	0.67916	D	.	.	0.320	0.54485	B	.;.;.	.;.;.	5.131401	0.85875	28.7	0.99898009000469157	0.97048	0.98891	0.88239	D	AEFBI	0.883070	0.81170	D	0.822606919197889	0.87498	9.238848	0.772879241718233	0.87852	9.367927	0.989382768283902	0.31809	0.706298	0.61202	0	0.708844	0.79440	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.74	4.84	0.62125	9.211000	0.94222	3.958000	0.40726	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0694:0.0:0.9306:0.0	14.754	0.69169	832	0.38914	Domain of unknown function DUF4205|Domain of unknown function DUF4205;Domain of unknown function DUF4205|Domain of unknown function DUF4205;Domain of unknown function DUF4205|Domain of unknown function DUF4205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	652.98	34	chr10	15833683	.	G	A	652.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.205e+00;DP=744;ExcessHet=0.0000;FS=2.791;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.51;ReadPosRankSum=1.07;SOR=0.324	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1270	20	0	1	0
chr10	16484415	16484415	G	A	exonic	PTER	.	nonsynonymous SNV	PTER:NM_001261836:exon2:c.G31A:p.V11I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.999	D	0.951	D	0.000	N	1.000	D	2.585	M	0.23	T	-0.140	T	0.402	T	0.65	3.505	17.91	5.18	1.590	8.025	15.151	0.357	0.015242266151	0.0002	.	0.0001	9.617e-05	0	0.0001	0	0.0001	0	0.0002	0.00011	17	154602	rs146692031	6.802e-05	6.772e-05	5.467e-05	8.151e-05	0.0009	5.695e-05	5.284e-05	0.0003	0.0002	3.029e-05	9.316e-05	0	5.042e-05	0	0.0009	7.115e-05	3.328e-05	7.095e-05	0.0001	0.0001	0.0001	0.0001	0.0004	7.095e-05	5.751e-05	6.835e-05	4.241e-05	4.821e-05	0	6.545e-05	0	0.0004	0	0.0068	0.0001	0.0005	0.0002	0.0	0.91255	D	0.052	0.47581	T	0.999	0.77913	D	0.951	0.68939	D	0.000000	0.84330	N	0.051516	1	0.81001	D	3.21	0.89262	M	0.23	0.59717	T	-0.83	0.22727	N	0.756	0.75466	-0.1404	0.79155	T	0.402	0.75295	T	10	0.78580475	0.78236	D	0.015242	0.35857	T	0.357	0.67782	.	.	0.567496836917	0.56414	0.7268803541954131	0.72632	0.152353913493	0.17194	0.537826299667	0.44138	T	0.237005	0.60459	T	-0.017022	0.49277	T	-0.0139184	0.69428	D	0.416269540786743	0.29552	T	0.945305	0.79188	D	0.47518155	0.65607	0.46325782	0.68840	0.47518155	0.65607	0.46325782	0.68841	-8.668	0.65537	D	.	.	0.176	0.42563	B	.;.;.	.;.;.	4.303245	0.65722	24.9	0.99740261808944497	0.83409	0.98537	0.83843	D	AEFBI	0.791552	0.72011	D	0.525175558778732	0.68583	5.237221	0.397616484442195	0.61416	4.341604	0.99999669577481	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	6.08	5.18	0.71140	8.152000	0.89578	8.553000	0.77536	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.213000	0.22268	0.0671:0.0:0.9329:0.0	15.151	0.72377	900	0.24599	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1415.98	35	chr10	16484415	.	G	A	1415.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.45;ReadPosRankSum=-6.090e-01;SOR=0.717	GT:AD:DP:GQ:PL	0/1:43,55:98:99:1430,0,986	20	0	1	0
chr10	16593447	16593447	T	G	exonic	RSU1	.	nonsynonymous SNV	RSU1:NM_152724:exon8:c.A622C:p.N208H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.556	P	0.123	B	0.000	D	1.000	D	1.04	L	1.15	T	-1.090	T	0.072	T	0.342	3.388	17.43	6.08	2.333	5.937	16.644	0.067	0.00894991996921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.33418	T	0.109	0.37449	T	0.556	0.38244	P	0.123	0.32463	B	0.000000	0.84330	D	0.000000	0.999787	0.49076	D	.	.	.	1.15	0.38236	T	-1.47	0.35991	N	0.432	0.47115	-1.0897	0.05582	T	0.072	0.29387	T	10	0.25111157	0.42446	T	0.00895	0.23583	T	0.067	0.19503	0.206	0.12216	0.55350970329	0.55009	0.3988290434311711	0.39797	0.442136844735	0.44188	0.773657083511	0.77971	T	0.049637	0.28365	T	-0.0941017	0.37397	T	-0.372947	0.36543	T	0.94280993938446	0.61735	D	0.918608	0.72230	D	0.1889534	0.40415	0.1921554	0.42714	0.1889534	0.40415	0.1921554	0.42713	-4.919	0.35948	T	.	.	0.095	0.21728	B	.;.;.	.;.;.	3.414736	0.47383	22.4	0.98943336898535994	0.48978	0.97626	0.75993	D	AEFBI	0.827708	0.74694	D	0.25288081946989	0.53780	3.545641	0.409201001555154	0.62136	4.424235	0.999987901289304	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.688494	0.62686	0	0.714379	0.83352	0	.	.	6.08	6.08	0.98982	5.916000	0.69712	7.808000	0.69345	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	16.644	0.85012	908	0.22609	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1810.98	161	chr10	16593447	.	T	G	1810.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.300e-01;DP=864;ExcessHet=0.0000;FS=4.602;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=-2.930e-01;SOR=0.440	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr10	16831390	16831390	G	C	exonic	CUBN	.	nonsynonymous SNV	CUBN:NM_001081:exon65:c.C10390G:p.P3464A,	Megaloblastic anemia-1, Finnish type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3415623	Proteinuria,_chronic_benign	MONDO:MONDO:0030042,MedGen:C5394384,OMIM:618884	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.984	D	0.016	N	1.000	D	2.34	M	1.25	T	-0.590	T	0.232	T	0.607	3.848	19.55	4.6	2.378	8.896	17.584	0.401	0.0257171484592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.0	0.92824	D	0.999	0.77913	D	0.984	0.76113	D	0.015732	0.28167	N	0.169083	0.99999	0.58761	D	2.535	0.73915	M	1.25	0.36512	T	-4.34	0.76822	D	0.693	0.69825	-0.5900	0.65221	T	0.232	0.59842	T	10	0.824271	0.81614	D	0.025717	0.48675	D	0.401	0.71479	0.638	0.77470	0.738898308675	0.73656	0.6328118775062078	0.63215	0.44134038575	0.44124	0.512055754662	0.40510	T	0.176605	0.52661	T	0.0109107	0.53149	T	-0.222104	0.52534	T	0.987704873085022	0.78149	D	0.780122	0.41468	T	0.19098033	0.40707	0.16383526	0.37986	0.19098033	0.40706	0.16383526	0.37985	-5.756	0.44189	T	0.8601656872923351	0.92384	0.090	0.12750	B	.	.	4.317380	0.66045	24.9	0.99308597412739674	0.58906	0.99645	0.98295	D	AEFBI	0.877106	0.80153	D	0.644045445922365	0.75982	6.403545	0.532888383991014	0.70217	5.472678	0.999999999995034	0.74766	0.653281	0.48532	0	0.610034	0.51514	0	0.573888	0.23631	0	0.669	0.65921	0	.	.	4.6	4.6	0.56512	8.794000	0.91495	8.595000	0.77703	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	17.584	0.87875	917	0.20147	CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1201.98	34	chr10	16831390	.	G	C	1201.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.523;DP=784;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.84;ReadPosRankSum=1.49;SOR=0.757	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1161	20	0	1	0
chr10	16874404	16874404	G	A	exonic	CUBN	.	nonsynonymous SNV	CUBN:NM_001081:exon58:c.C9206T:p.T3069I,	Megaloblastic anemia-1, Finnish type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	684147	CUBN-related_disorder|Imerslund-Grasbeck_syndrome	.|MONDO:MONDO:0009853,MedGen:C4551825,OMIM:PS261100,Orphanet:35858	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.32	T	0.002	B	0.004	B	0.156	N	1.000	N	1.345	L	2.21	T	-1.020	T	0.026	T	0.084	0.933	8.800	-0.514	-0.302	0.226	5.045	0.024	.	.	0.00459265	0.0018	9.61e-05	0.0029	0.0195	0	5.994e-05	0.0022	0.0004	0.0015718	243	154602	rs117400821	0.0007	0.0007	0.0007	0.0007	0.0169	0.0007	0.0006	0.0158	0.0154	5.974e-05	0.0028	0	0.0169	0	0	5.126e-05	0.0018	0.0006	0.0011	0.0011	0.0010	0.0013	0.0210	0.0010	0.0009	0.0178	0.0166	0.0002	0	0.0027	0	0.0210	0	0	4.41e-05	0.0014	0.0019	0.4	0.10482	T	0.002	0.79402	D	0.002	0.09854	B	0.004	0.10090	B	0.156381	0.03003	N	1.863120	1	0.08975	N	0.825	0.20901	L	2.21	0.18414	T	-3.0	0.62343	D	0.187	0.20395	-1.0200	0.23715	T	0.026	0.10998	T	10	0.0068894625	0.00156	T	.	.	.	0.024	0.04979	.	.	0.359357374593	0.35551	0.31744517675439465	0.31657	0.0927251273686	0.10471	0.37786090374	0.21953	T	0.153985	0.49507	T	-0.689529	0.00042	T	-0.742287	0.03794	T	0.00286088158303228	0.00030	T	0.354465	0.08000	T	0.058664713	0.11831	0.061197296	0.11779	0.058664713	0.11830	0.061197296	0.11779	-6.327	0.48936	T	0.16774184550962473	0.20933	0.108	0.20391	B	.	.	-0.396305	0.02226	0.225	0.8559871294566348	0.15993	0.04933	0.10690	N	AEFGI	0.048907	0.08396	N	-1.15998042118218	0.05618	0.2565699	-1.20122625603988	0.05891	0.2819764	0.0104907126452216	0.12033	0.554377	0.28877	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.23	-0.514	0.11361	0.286000	0.18660	0.458000	0.18589	-0.251000	0.07141	0.003000	0.16062	0.000000	0.08366	0.019000	0.11356	0.3383:0.0:0.5263:0.1353	5.045	0.13819	900	0.24599	CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2267.98	40	chr10	16874404	.	G	A	2267.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.820e-01;DP=831;ExcessHet=0.0000;FS=4.254;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.18;ReadPosRankSum=0.044;SOR=1.124	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1530	20	0	1	0
chr10	16925418	16925418	T	C	exonic	CUBN	.	nonsynonymous SNV	CUBN:NM_001081:exon43:c.A6469G:p.N2157D,	Megaloblastic anemia-1, Finnish type, Autosomal recessive	.	1	1505	15	1	0	17	0.00561612	.	.	684155	Imerslund-Grasbeck_syndrome|See_cases|Imerslund-Grasbeck_syndrome_type_1|not_provided	MONDO:MONDO:0009853,MedGen:C4551825,OMIM:PS261100,Orphanet:35858|.|MONDO:MONDO:0100156,MedGen:C4016819,OMIM:261100|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.5	T	1.0	D	0.99	D	0.000	D	1.000	D	0.505	N	2.05	T	-1.091	T	0.053	T	0.53	3.589	18.28	5.32	2.241	7.281	15.441	0.322	.	0.0054	0.00319489	0.0056	0.0012	0.0044	0	0.0144	0.0071	0.0077	0.0025	0.005181	801	154602	rs144360241	0.0052	0.0052	0.0051	0.0053	0.0205	0.0051	0.0050	0.0175	0.0163	0.0008	0.0031	0.0066	0	0.0134	0.0205	0.0053	0.0051	0.0026	0.0053	0.0053	0.0053	0.0053	0.0065	0.0050	0.0048	0.0060	0.0058	0.0012	0	0.0052	0.0063	0	0.0173	0.0170	0.0065	0.0061	0.0019	0.217	0.19157	T	0.031	0.53788	D	1.0	0.90584	D	0.99	0.78936	D	0.000117	0.50451	D	0.000000	0.998513	0.45021	D	0.43	0.12624	N	2.05	0.20664	T	-4.22	0.75854	D	0.77	0.76760	-1.0915	0.05286	T	0.053	0.22501	T	10	0.020251662	0.00464	T	.	.	.	0.322	0.64420	.	.	0.618957995044	0.61587	0.7563220409290017	0.75580	0.468211300849	0.46174	0.475276261568	0.35408	T	0.232793	0.59944	T	-0.418902	0.01738	T	-0.370774	0.36798	T	0.0130285042958418	0.00227	T	0.661134	0.27033	T	0.41620767	0.61839	0.4079235	0.65124	0.41620767	0.61839	0.4079235	0.65124	-5.39	0.40823	T	0.4753071230537675	0.55498	0.240	0.47459	B	.	.	3.512344	0.49190	22.7	0.9978035496376344	0.86693	0.99506	0.96851	D	AEFBI	0.866429	0.78585	D	0.425530577525167	0.62831	4.50557	0.457775295356004	0.65217	4.796047	0.999993809970639	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.32	5.32	0.75377	7.201000	0.77364	5.041000	0.46911	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.0:0.0:0.0:1.0	15.441	0.74911	803	0.44167	CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1341.98	69	chr10	16925418	.	T	C	1341.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.062e+00;DP=1375;ExcessHet=0.0000;FS=0.749;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.90;MQRankSum=-9.700e-01;QD=13.29;ReadPosRankSum=-9.110e-01;SOR=0.810	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	20	0	1	0
chr10	17071457	17071457	C	T	exonic	CUBN	.	nonsynonymous SNV	CUBN:NM_001081:exon19:c.G2594A:p.S865N,	Megaloblastic anemia-1, Finnish type, Autosomal recessive	.	1	1495	25	1	0	27	0.00894929	.	.	259935	Imerslund-Grasbeck_syndrome|Imerslund-Grasbeck_syndrome_type_1|not_specified|not_provided	MONDO:MONDO:0009853,MedGen:C4551825,OMIM:PS261100,Orphanet:35858|MONDO:MONDO:0100156,MedGen:C4016819,OMIM:261100|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.35	T	0.007	B	0.006	B	0.140	N	1.000	N	0.155	N	2.24	T	-0.983	T	0.013	T	0.006	0.813	8.271	-4.35	-0.282	-0.892	11.884	0.062	.	0.0085	0.00319489	0.0075	0.0017	0.0018	0	0.0058	0.0113	0.0022	0.0042	0.0075225	1163	154602	rs138083522	0.0097	0.0097	0.0096	0.0098	0.0112	0.0096	0.0095	0.0110	0.0109	0.0016	0.0033	0.0091	0	0.0062	0.0066	0.0112	0.0086	0.0051	0.0073	0.0073	0.0076	0.0071	0.0123	0.0070	0.0068	0.0116	0.0113	0.0021	0.0296	0.0035	0.0072	0	0.0052	0.0034	0.0123	0.0085	0.0033	0.535	0.06913	T	0.579	0.08535	T	0.007	0.14184	B	0.006	0.12133	B	0.140464	0.18308	N	0.458452	1	0.08975	N	0.695	0.17993	N	2.24	0.17923	T	0.38	0.03579	N	0.659	0.66873	-0.9833	0.34234	T	0.013	0.05129	T	10	0.0062994957	0.00142	T	.	.	.	0.062	0.17934	.	.	0.226586394389	0.22295	0.20347358920778352	0.20264	0.076962351002	0.08643	0.32478749752	0.14146	T	0.025731	0.19180	T	-0.74171	0.00020	T	-0.827161	0.01313	T	0.00110475637476235	0.00011	T	0.50225	0.15758	T	0.05099775	0.09301	0.06838942	0.14277	0.05099775	0.09300	0.06838942	0.14277	-3.209	0.12591	T	0.1740204019745255	0.22077	0.074	0.05060	B	.	.	-0.325975	0.02506	0.295	0.86535495772032101	0.16602	0.03089	0.08012	N	AEFBI	0.080154	0.16202	N	-1.07499693678541	0.07107	0.3291508	-1.05645910652824	0.08572	0.4221397	0.990266353850165	0.32094	0.559995	0.30671	0	0.573888	0.26702	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	5.47	-4.35	0.03402	-0.871000	0.04331	-2.571000	0.03595	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.980000	0.58198	0.0:0.2171:0.6099:0.173	11.884	0.51869	864	0.32732	CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2228.98	33	chr10	17071457	.	C	T	2228.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.632e+00;DP=853;ExcessHet=0.0000;FS=0.593;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.76;ReadPosRankSum=-9.280e-01;SOR=0.760	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr10	17109663	17109663	T	G	exonic	CUBN	.	nonsynonymous SNV	CUBN:NM_001081:exon10:c.A1088C:p.D363A,	Megaloblastic anemia-1, Finnish type, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	1873394	Imerslund-Grasbeck_syndrome	MONDO:MONDO:0009853,MedGen:C4551825,OMIM:PS261100,Orphanet:35858	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.55	T	0.048	B	0.039	B	0.878	N	1.000	N	0.625	N	-2.62	D	-0.542	T	0.515	D	0.204	-0.228	2.899	4.49	1.061	2.022	6.422	0.162	0.0747618093001	.	0.000599042	0.0002	0	0	0.0003	0	0	0	0.0010	0.0001552	24	154602	rs138044409	5.884e-05	5.883e-05	2.451e-05	9.352e-05	0.0009	4.877e-05	4.497e-05	0.0008	0.0007	0	0	0	2.519e-05	0	0.0003	8.994e-07	1.656e-05	0.0009	6.571e-05	6.562e-05	3.857e-05	9.409e-05	0.0015	3.517e-05	2.616e-05	0.0007	0.0005	0	0	0	0	0.0004	0	0	0	0.0005	0.0015	0.682	0.04404	T	0.771	0.04461	T	0.048	0.22112	B	0.039	0.23607	B	0.878349	0.07219	N	1.079030	1	0.08975	N	0.485	0.13215	N	-2.62	0.90017	D	0.68	0.02228	N	0.304	0.34336	-0.5419	0.67092	T	0.515	0.81835	D	10	0.019956917	0.00452	T	0.074762	0.72121	D	0.162	0.41843	0.332	0.31843	0.739250118084	0.73691	0.38733875392464157	0.38648	0.1303486935	0.14704	0.225077971816	0.01624	T	0.166243	0.51240	T	-0.339102	0.05451	T	-0.305424	0.44148	T	0.0259111543482529	0.01394	T	0.316668	0.06305	T	0.08707209	0.20261	0.06542314	0.13256	0.08707209	0.20261	0.06542314	0.13256	-3.437	0.15559	T	0.2307643910516449	0.31225	0.073	0.04847	B	.	.	0.906489	0.12808	9.322	0.90015220587280753	0.19304	0.10097	0.15696	N	ALL	0.170438	0.29735	N	-0.799294426733457	0.13329	0.6558271	-0.744550963653823	0.15856	0.8359989	0.999999999782851	0.74766	0.616025	0.39624	0	0.573888	0.26702	0	0.597571	0.31856	0	0.677038	0.66255	0	.	.	5.64	4.49	0.54177	1.994000	0.40377	1.224000	0.24997	0.665000	0.62972	0.005000	0.17040	0.003000	0.18671	0.049000	0.15107	0.3408:0.0:0.1298:0.5294	6.422	0.20951	751	0.51694	EGF domain|EGF-like domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1117.98	36	chr10	17109663	.	T	G	1117.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.036;DP=799;ExcessHet=0.0000;FS=1.575;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.55;ReadPosRankSum=0.604;SOR=0.900	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1251	20	0	1	0
chr10	17752402	17752402	A	G	exonic	TMEM236	.	nonsynonymous SNV	TMEM236:NM_001098844:exon1:c.A107G:p.Q36R,	.	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.102	B	0.022	B	0.712	N	1.000	N	1.725	L	-0.44	T	-0.930	T	0.229	T	0.221	-1.480	0.018	4.03	0.802	0.858	9.094	0.038	0.00452415281551	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1288316094	2.052e-06	2.052e-06	2.723e-06	1.375e-06	0.0002	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	0	0	1.315e-05	1.313e-05	2.57e-05	0	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.443	0.09182	T	0.522	0.10391	T	0.102	0.25827	B	0.022	0.19653	B	0.711734	0.06262	N	1.167020	1	0.08975	N	.	.	.	-0.44	0.69777	T	-1.31	0.32791	N	0.085	0.06190	-0.9304	0.44080	T	0.229	0.59409	T	10	0.05070117	0.04842	T	0.016803	0.38225	T	0.113	0.31778	0.198	0.11110	0.0297737177859	0.01360	0.22603993550418636	0.22518	.	.	0.300869077444	0.10531	T	0.009897	0.08979	T	-0.146145	0.28916	T	-0.447704	0.27950	T	0.0958035731508614	0.11889	T	0.334567	0.07109	T	0.047329824	0.08072	0.12863557	0.30945	0.047329824	0.08071	0.12863557	0.30945	-2.978	0.09946	T	.	.	0.074	0.05060	B	.	.	0.543440	0.09120	5.903	0.3161579837061802	0.01791	0.02827	0.07567	N	AEFGI	0.037322	0.05114	N	-0.773230983811093	0.14011	0.694505	-0.790007065739715	0.14739	0.7717513	3.66552193936269E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.19	4.03	0.46115	1.040000	0.29888	3.302000	0.37391	0.743000	0.86499	0.000000	0.06391	0.429000	0.24846	0.134000	0.19723	0.8147:0.1853:0.0:0.0	9.094	0.35789	845	0.36510	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1627.98	226	chr10	17752402	.	A	G	1627.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.421e+00;DP=940;ExcessHet=0.0000;FS=1.059;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.20;ReadPosRankSum=0.740;SOR=0.615	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1269	20	0	1	0
chr10	17796275	17796275	C	T	exonic	TMEM236	.	nonsynonymous SNV	TMEM236:NM_001098844:exon4:c.C827T:p.S276F,	.	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	.	.	.	.	.	.	1.98	T	-0.743	T	0.129	T	0.801	3.708	18.83	3.58	2.032	5.726	11.007	0.360	0.0127811636741	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1032686581	0.0081	0.0080	0.0082	0.0079	0.0090	0.0079	0.0079	0.0089	0.0088	0.0012	0.0027	0.0069	0	0.0168	0.0078	0.0090	0.0063	0.0005	0.0061	0.0062	0.0062	0.0061	0.0079	0.0058	0.0057	0.0074	0.0072	0.0020	0.0088	0.0066	0.0089	0	0.0143	0.0068	0.0079	0.0076	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	D	0.000000	0.999993	0.58761	D	.	.	.	1.98	0.21865	T	-5.3	0.84387	D	0.863	0.85979	-0.9044	0.47515	T	0.135	0.45049	T	10	0.0064267516	0.00146	T	0.01811	0.40062	T	0.360	0.68052	0.412	0.44887	0.134241683229	0.13084	0.8618846767854208	0.86152	.	.	0.557874679565	0.46968	T	0.299903	0.67241	T	-0.140782	0.29765	T	0.0353877	0.72628	D	0.206580402657604	0.20774	T	0.807619	0.45757	T	0.31536904	0.54246	0.2448966	0.49966	0.31536904	0.54246	0.2448966	0.49965	-6.078	0.46927	T	.	.	0.948	0.86730	P	.	.	4.763976	0.77051	26.6	0.99814155303396856	0.89797	0.93471	0.58306	D	AEFI	0.506977	0.53747	D	0.58684859884875	0.72353	5.792355	0.491612550656603	0.67432	5.083384	0.790886323968656	0.24013	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.57	4.57	0.55860	5.996000	0.70309	7.587000	0.61135	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:1.0:0.0:0.0	12.915	0.57594	928	0.17405	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	5117.11	203	chr10	17796275	.	C	T	5117.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.87;DP=1132;ExcessHet=0.1072;FS=4.056;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=-1.386e+00;SOR=0.876	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1152	19	0	2	0
chr10	17965658	17965658	C	T	exonic	SLC39A12	.	nonsynonymous SNV	SLC39A12:NM_001282734:exon3:c.C317T:p.S106F	.	.	0	225	1	0	0	1	0.00221729	.	.	3329141	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.45	T	0.008	B	0.023	B	0.018	N	0.969	N	0.715	N	0.03	T	-1.023	T	0.120	T	0.16	-1.247	0.052	1.3	-0.048	1.150	9.173	0.033	0.00661248599983	.	0.000199681	8.26e-06	0	0	0	0	1.502e-05	0	0	1.29e-05	2	154602	rs565046397	2.736e-06	2.736e-06	2.723e-06	2.75e-06	2.698e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	1.656e-05	0	1.313e-05	1.312e-05	1.285e-05	1.343e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.781	0.03392	T	0.748	0.04842	T	0.006	0.14655	B	0.008	0.19966	B	0.018490	0.27471	N	0.429139	0.968825	0.25783	N	0.295	0.10161	N	-0.05	0.64264	T	-1.74	0.41239	N	0.182	0.24883	-1.0226	0.22866	T	0.120	0.41843	T	10	0.05986923	0.07264	T	0.006612	0.17444	T	0.033	0.08068	0.386	0.40624	0.139678290688	0.13603	0.34401809535962136	0.34315	0.0241457992308	0.02455	0.341167330742	0.16612	T	0.006713	0.06137	T	-0.219857	0.18012	T	-0.48994	0.23397	T	0.0176755131308739	0.00499	T	0.781422	0.41649	T	0.045433775	0.07435	0.06334727	0.12534	0.045433775	0.07434	0.06334727	0.12534	-5.682	0.43533	T	.	.	0.078	0.10111	B	.;.;.;.	.;.;.;.	0.941344	0.13168	9.671	0.1321388255939808	0.00253	0.52460	0.29137	D	AEFDI	0.065223	0.12711	N	-0.825870487356639	0.12650	0.6180332	-0.711420770583789	0.16676	0.8833256	1.53165229337004E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.81	1.3	0.20778	1.184000	0.31663	1.807000	0.28930	-0.313000	0.06017	0.967000	0.34061	0.971000	0.29754	0.084000	0.17470	0.0:0.5556:0.0:0.4444	9.173	0.36254	940	0.13648	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	625.98	37	chr10	17965658	.	C	T	625.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=776;ExcessHet=0.0000;FS=3.458;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.48;ReadPosRankSum=-1.246e+00;SOR=1.167	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1149	20	0	1	0
chr10	17987553	17987553	C	T	exonic	SLC39A12	.	nonsynonymous SNV	SLC39A12:NM_001282734:exon6:c.C769T:p.H257Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.93	P	0.528	P	0.046	N	0.565	D	0.69	N	0.9	T	-0.888	T	0.090	T	0.274	2.529	14.42	3.81	1.441	2.623	12.452	0.050	0.010170329409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.20835	T	0.61	0.07691	T	0.749	0.51791	P	0.461	0.48482	P	0.046369	0.23446	N	0.502768	0.564789	0.32243	D	0.55	0.14455	N	0.9	0.45248	T	-0.89	0.25118	N	0.456	0.51672	-0.8878	0.49122	T	0.090	0.34573	T	10	0.26225096	0.43692	T	0.01017	0.26390	T	0.050	0.13987	0.508	0.60386	0.12205267543	0.11705	0.2869701391367484	0.28610	0.145213614429	0.16413	0.387882649899	0.23371	T	0.002116	0.01518	T	-0.17612	0.24316	T	-0.490761	0.23311	T	0.870356142520905	0.52027	D	0.877812	0.66064	D	0.24824125	0.47809	0.25462446	0.51131	0.24824125	0.47809	0.25462446	0.51130	-8.907	0.67096	D	.	.	0.110	0.23148	B	.;.;.;.	.;.;.;.	3.683088	0.52433	23.2	0.99514285608639219	0.68799	0.86454	0.45737	D	AEFBI	0.332617	0.43197	N	0.201768554437613	0.51285	3.310955	0.27008806409916	0.53799	3.547315	0.660843247812059	0.22269	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.84	3.81	0.43020	2.686000	0.46634	3.541000	0.39004	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.890000	0.42831	0.5836:0.4164:0.0:0.0	12.452	0.55020	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3219.08	33	chr10	17987553	.	C	T	3219.08	.	AC=2;AF=0.048;AN=42;DP=805;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.08;SOR=1.008	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1385	20	1	0	0
chr10	18140803	18140803	A	G	exonic	CACNB2	.	nonsynonymous SNV	CACNB2:NM_201593:exon1:c.A67G:p.M23V	Brugada syndrome 4	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.004	B	0.004	B	.	.	1.000	D	0.895	L	-1.65	D	-0.543	T	0.336	T	0.352	1.646	11.46	2.97	1.235	3.625	7.372	0.252	0.755736658304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.377e-06	1.368e-06	0	2.772e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.018e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.65419	D	0.277	0.24193	T	0.004	0.12183	B	0.001	0.10090	B	.	.	.	.	0.997208	0.22752	N	0.805	0.20218	L	-1.65	0.83157	D	-0.98	0.25986	N	0.432	0.61002	-0.5433	0.67039	T	0.336	0.70248	T	9	0.2950001	0.47070	T	0.755737	0.98057	D	0.252	0.56159	0.333	0.32005	0.784929984649	0.78294	0.39942202417516115	0.39857	0.20667042463	0.23098	0.865435421467	0.91909	D	0.115636	0.43438	T	0.0187113	0.54208	T	-0.210899	0.53610	T	0.141916709966555	0.16439	T	0.681532	0.29028	T	0.25417212	0.48444	0.32400706	0.58328	0.25417212	0.48444	0.32400706	0.58327	-2.343	0.05358	T	.	.	0.103	0.27613	B	.;.;.	.;.;.	3.694875	0.52664	23.3	0.94334188462853041	0.24670	0.59728	0.30996	D	AEFDBHCIJ	0.156129	0.28144	N	-0.490436610506751	0.22394	1.195432	-0.436166744353558	0.23945	1.308473	0.999985635666456	0.51787	0.59774	0.34471	0	0.563428	0.19063	0	0.666236	0.60216	0	0.63947	0.58350	0	.	.	2.97	2.97	0.33479	1.658000	0.36992	6.834000	0.56699	0.557000	0.28285	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	7.372	0.25982	934	0.15400	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1231.98	33	chr10	18140803	.	A	G	1231.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.41;DP=822;ExcessHet=0.0000;FS=4.228;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.33;ReadPosRankSum=1.10;SOR=1.101	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1151	20	0	1	0
chr10	18536163	18536163	G	C	exonic	CACNB2	.	nonsynonymous SNV	CACNB2:NM_000724:exon11:c.G1104C:p.M368I	Brugada syndrome 4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.944	P	0.938	D	0.000	D	1.000	D	1.45	L	1.09	T	-0.053	T	0.590	D	0.895	3.864	19.63	5.64	2.673	9.869	19.706	0.540	0.0283733843996	.	.	.	.	.	.	.	.	.	.	.	.	.	rs552801377	1.375e-06	1.368e-06	1.368e-06	1.382e-06	1.807e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.807e-06	0	0	6.658e-06	6.61e-06	0	1.367e-05	1.474e-05	0	0	.	.	0	0	0	0	0	0	0	1.474e-05	0	0	0.22	0.20381	T	0.224	0.39340	T	0.143	0.41631	B	0.119	0.56161	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.32	0.33002	L	-1.47	0.81067	T	-1.8	0.44852	N	0.813	0.90704	-0.0532	0.81139	T	0.590	0.85307	D	10	0.75537765	0.75943	D	0.028373	0.51063	D	0.540	0.80782	0.649	0.78648	0.8788160096	0.87763	0.7833074846426112	0.78281	0.820667099347	0.67152	0.865553855896	0.91927	D	0.169209	0.51650	T	0.346897	0.86298	D	0.260517	0.86118	D	0.787799056788273	0.45545	D	0.562644	0.46414	T	0.35659793	0.57576	0.34408775	0.60111	0.35659793	0.57577	0.34408775	0.60110	-9.718	0.75852	D	0.263918007934929	0.35599	0.870	0.90737	P	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	3.801493	0.54779	23.5	0.9932168537594227	0.59393	0.99286	0.93967	D	AEFDGBI	0.925267	0.90454	D	0.342624388631807	0.58351	4.00683	0.496098373966294	0.67732	5.123447	0.999999999770068	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.64	5.64	0.86480	10.003000	0.99689	11.800000	0.96626	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.706	0.96066	952	0.10565	Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase/L-type calcium channel beta subunit;.;Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase/L-type calcium channel beta subunit;.;.;Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase/L-type calcium channel beta subunit;.;.;.;.;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase/L-type calcium channel beta subunit	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	459.98	35	chr10	18536163	.	G	C	459.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.100e+00;DP=773;ExcessHet=0.0000;FS=2.083;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.57;ReadPosRankSum=-4.900e-02;SOR=0.402	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1315	20	0	1	0
chr10	19280124	19280124	A	C	exonic	MALRD1	.	nonsynonymous SNV	MALRD1:NM_001142308:exon20:c.A3157C:p.N1053H,	.	.	437	1080	5	0	0	5	0.00230947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	-3.8	D	-0.031	T	0.710	D	0.049	2.525	14.40	-4.77	-0.706	-0.393	7.515	0.169	.	.	0.00279553	0.0041	0	0	0	0	0	0	0.0102	0.000608	94	154602	rs574597600	0.0007	0.0007	0.0004	0.0010	0.0106	0.0007	0.0006	0.0100	0.0098	0	0	0	0.0001	0	0.0014	4.455e-05	0.0013	0.0106	0.0004	0.0004	0.0002	0.0006	0.0114	0.0003	0.0003	0.0090	0.0081	0	0	0.0001	0	0.0006	0	0	4.41e-05	0.0009	0.0114	0.077	0.34095	T	0.053	0.47336	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-3.8	0.95696	D	-2.23	0.50012	N	0.198	0.21839	-0.0307	0.81616	T	0.710	0.90046	D	5	0.007387638	0.00168	T	.	.	.	0.169	0.43123	.	.	0.479668003354	0.47597	0.23483198360211316	0.23398	.	.	.	.	.	.	.	.	-0.4297	0.01489	T	-0.383046	0.35366	T	0.0349221734059856	0.02795	T	0.377362	0.09032	T	0.045191597	0.07355	0.087837264	0.20442	0.045191597	0.07355	0.087837264	0.20442	-8.327	0.63277	D	.	.	0.084	0.10979	B	.;.	.;.	-0.117283	0.03540	0.677	0.98317798712224336	0.40212	0.03517	0.08699	N	AEFI	0.114549	0.22558	N	-0.634009701347622	0.17930	0.9267867	-0.787671871901121	0.14797	0.7750621	0.00116447144121819	0.08293	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.49	-4.77	0.02985	-0.632000	0.05587	-1.779000	0.04742	0.743000	0.86499	0.000000	0.06391	0.000000	0.08366	0.928000	0.46473	0.425:0.219:0.3561:0.0	7.515	0.26766	923	0.18507	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	592.98	35	chr10	19280124	.	A	C	592.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.462e+00;DP=767;ExcessHet=0.0000;FS=1.083;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=0.726;SOR=0.503	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr10	19352187	19352187	T	G	exonic	MALRD1	.	nonsynonymous SNV	MALRD1:NM_001142308:exon26:c.T4331G:p.V1444G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	4.4	T	-0.906	T	0.011	T	0.561	3.002	16.01	4.37	1.105	2.374	9.088	0.125	0.0204777294051	.	0.000998403	0.0002	0.0031	0	0	0	0	0	0.0001	5.82e-05	9	154602	rs149425848	1.716e-05	1.642e-05	8.467e-06	2.61e-05	0.0005	1.161e-05	9.76e-06	0.0003	0.0002	0.0005	2.801e-05	0	0	0	0.0004	3.707e-06	1.723e-05	1.262e-05	6.575e-05	6.563e-05	2.573e-05	0.0001	0.0002	3.519e-05	2.618e-05	0.0001	8.446e-05	0.0002	0	0	0	0	0	0	0	0.0005	0	0.012	0.54683	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	0.999606	0.47795	D	.	.	.	4.4	0.02215	T	-4.85	0.81107	D	0.391	0.43223	-0.9057	0.47366	T	0.011	0.04088	T	5	0.02008918	0.00458	T	0.020478	0.43083	T	0.125	0.34456	.	.	0.492681238296	0.48903	0.7889964366897485	0.78851	.	.	.	.	.	.	.	.	-0.333852	0.05825	T	-0.389371	0.34625	T	0.562930583953857	0.34966	D	0.505949	0.15996	T	0.14344892	0.32968	0.29304236	0.55333	0.14344892	0.32968	0.29304236	0.55332	-14.404	0.94295	D	.	.	0.185	0.45186	B	.;.	.;.	3.244007	0.44290	21.9	0.99637190104243512	0.76449	0.95881	0.66555	D	AEFDI	0.630585	0.61188	D	0.0731440250724017	0.45211	2.781606	0.104876586159585	0.44798	2.754603	0.00410375068181164	0.10418	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.5	4.37	0.51830	2.359000	0.43797	3.232000	0.36914	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.1961:0.0:0.8039	9.088	0.35757	957	0.09725	MAM domain|MAM domain|MAM domain|MAM domain;MAM domain|MAM domain|MAM domain|MAM domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1984.98	39	chr10	19352187	.	T	G	1984.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.685e+00;DP=1014;ExcessHet=0.0000;FS=4.298;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.81;ReadPosRankSum=-5.090e-01;SOR=0.425	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,114,1710	20	0	1	0
chr10	19352231	19352231	C	-	exonic	MALRD1	.	frameshift deletion	MALRD1:NM_001142308:exon26:c.4375delC:p.T1460Qfs*46,	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00459265	0.0009	0	0.0070	0.0082	0	0	0	0.0012	0.0002652	41	154602	rs531574019	0.0007	0.0007	0.0007	0.0007	0.0123	0.0007	0.0006	0.0114	0.0110	0	0.0085	0	0.0123	0	0.0002	7.786e-05	0.0012	0.0010	0.0010	0.0010	0.0010	0.0010	0.0095	0.0009	0.0008	0.0074	0.0066	0.0002	0	0.0051	0	0.0095	0	0	1.47e-05	0.0019	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1896.94	39	chr10	19352230	.	GC	G	1896.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.114e+00;DP=921;ExcessHet=0.0000;FS=1.712;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.07;ReadPosRankSum=0.138;SOR=0.487	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,114,1710	20	0	1	0
chr10	20889923	20889923	C	G	exonic	NEBL	.	nonsynonymous SNV	NEBL:NM_006393:exon3:c.G180C:p.K60N,	.	.	439	1079	4	0	0	4	0.00185014	.	.	54652	NEBL-related_disorder|not_provided|not_specified|Primary_dilated_cardiomyopathy|Cardiovascular_phenotype	.|MedGen:C3661900|MedGen:CN169374|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.998	D	0.000	D	1.000	D	2.295	M	0.25	T	-0.595	T	0.259	T	0.289	2.907	15.69	1.9	0.087	0.052	8.740	0.323	0.0429752649612	0.0052	0.00139776	0.0039	0.0008	0.0015	0	0.0006	0.0064	0.0022	0.0008	0.0043208	668	154602	rs41277374	0.0057	0.0058	0.0057	0.0056	0.0067	0.0056	0.0055	0.0066	0.0065	0.0006	0.0020	0.0088	0	0.0009	0.0010	0.0067	0.0048	0.0015	0.0038	0.0038	0.0041	0.0035	0.0065	0.0035	0.0034	0.0060	0.0058	0.0010	0.0011	0.0023	0.0101	0	0.0004	0	0.0065	0.0028	0.0023	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000005	0.62929	D	0.103713	0.997262	0.81001	D	3.005	0.85968	M	0.25	0.59449	T	-3.89	0.78807	D	0.867	0.86404	-0.5946	0.65036	T	0.259	0.62966	T	10	0.008779794	0.00199	T	0.042975	0.60744	D	0.323	0.64522	0.501	0.59304	0.717819449637	0.71533	0.4051002485864515	0.40426	0.115224054123	0.12999	0.578130125999	0.49823	T	0.074521	0.34958	T	-0.402079	0.02244	T	-0.342374	0.40076	T	0.0444831642729476	0.04508	T	0.842116	0.64041	T	0.67088205	0.76480	0.5945006	0.76462	0.67088205	0.76481	0.5945006	0.76462	-8.693	0.65700	D	.	.	0.234	0.46768	B	.;.	.;.	2.788526	0.36647	20.3	0.99734096526239135	0.82975	0.79226	0.39218	D	AEFGBI	0.407691	0.47967	N	0.156769774313982	0.49132	3.117146	0.0650596252988378	0.42807	2.595654	0.958819659289646	0.28386	0.516011	0.20929	0	0.59043	0.45803	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.93	1.9	0.24770	0.102000	0.15108	0.135000	0.15097	-0.182000	0.10109	0.992000	0.37556	0.936000	0.28664	0.876000	0.41813	0.0:0.4559:0.0:0.5441	8.740	0.33710	894	0.26265	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1111.98	33	chr10	20889923	.	C	G	1111.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.880e+00;DP=788;ExcessHet=0.0000;FS=0.736;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=2.22;SOR=0.576	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1104	20	0	1	0
chr10	21517035	21517035	C	G	exonic	SKIDA1	.	nonsynonymous SNV	SKIDA1:NM_207371:exon4:c.G788C:p.G263A,	.	.	332	1184	6	0	0	6	0.00252738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.0	B	0.0	B	.	.	0.999	N	0	N	.	.	-1.032	T	0.039	T	0.023	0.435	6.360	0.814	0.115	2.510	3.195	0.049	0.174358297289	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868679098	4.054e-05	4.515e-05	4.475e-05	3.583e-05	0.0005	2.967e-05	2.633e-05	4.049e-05	2.093e-05	0	0	0.0003	0	0	0.0005	3.505e-05	6.657e-05	0.0001	3.467e-05	3.336e-05	2.699e-05	4.279e-05	0.0002	1.314e-05	8.37e-06	2.03e-05	1.163e-05	0	0	0	0	0	0	0	6.128e-05	0	0.0002	0.065	0.36310	T	0.432	0.13634	T	.	.	.	.	.	.	.	.	.	.	1	0.21681	N	.	.	.	.	.	.	-0.25	0.11008	N	0.066	0.03841	-1.0318	0.19873	T	0.039	0.16806	T	8	0.080872715	0.13176	T	0.174358	0.85077	D	0.049	0.13647	0.171	0.07655	0.0138822411134	0.00435	0.14681314989470803	0.14603	.	.	0.880079030991	0.93971	D	.	.	.	-0.300582	0.08605	T	-0.669542	0.07637	T	0.0819016620516777	0.10230	T	0.337566	0.07230	T	0.047520835	0.08134	0.13939089	0.33259	0.047520835	0.08134	0.13939089	0.33258	-3.063	0.10876	T	.	.	0.104	0.19032	B	.	.	1.569798	0.20101	14.59	0.831083983631421	0.14547	0.28640	0.23609	N	AEFDBHCIJ	0.061327	0.11717	N	-0.786541236810526	0.13660	0.6745411	-0.732566506204219	0.16151	0.8530712	0.999999869908345	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.289072	0.05449	1	0.603991	0.37454	0	.	.	1.83	0.814	0.17897	0.791000	0.26577	0.348000	0.17448	0.185000	0.17820	0.184000	0.24113	0.073000	0.22253	0.260000	0.23518	0.0:0.5303:0.2862:0.1834	3.195	0.06234	932	0.16191	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	367.98	18	chr10	21517035	.	C	G	367.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.920e-01;DP=498;ExcessHet=0.0000;FS=10.488;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.00;ReadPosRankSum=0.420;SOR=1.265	GT:AD:DP:GQ:PL	0/0:29,0:29:69:0,69,1035	20	0	1	0
chr10	21517091	21517093	GGC	-	exonic	SKIDA1	.	nonframeshift deletion	SKIDA1:NM_207371:exon4:c.730_732del:p.A244del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	0	0	.	0	3.84e-05	1	26028	rs761568410	0.0024	0.0056	0.0019	0.0029	0.0193	0.0023	0.0023	0.0138	0.0120	0.0012	0.0193	0.0017	0.0066	0.0185	0.0018	0.0022	0.0034	0.0014	0.0009	0.0010	0.0009	0.0008	0.0012	0.0007	0.0007	0.0010	0.0009	0.0006	0	0.0006	0	0.0003	0	0.0098	0.0012	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	48.94	9	chr10	21517090	.	AGGC	A	48.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.242e+00;DP=450;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.44;ReadPosRankSum=0.921;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:22,0:22:66:.:.:0,66,731	20	0	1	0
chr10	22003351	22003351	-	TG	exonic	DNAJC1	.	frameshift insertion	DNAJC1:NM_022365:exon1:c.83_84insCA:p.T29Rfs*31,	.	.	291	1219	11	1	0	13	0.00530396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0026	0	0	0	0	0	0	0.0047	0.0001537	4	26028	rs575609970	0.0011	0.0011	0.0009	0.0014	0.0098	0.0011	0.0011	0.0091	0.0089	4.028e-05	0.0001	0	0	0.0007	0.0049	0.0007	0.0014	0.0098	0.0008	0.0008	0.0006	0.0010	0.0097	0.0007	0.0006	0.0075	0.0067	0.0001	0	6.538e-05	0	0	0.0003	0.0103	0.0009	0.0005	0.0097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	333.94	34	chr10	22003351	.	C	CTG	333.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.140e-01;DP=723;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.95;ReadPosRankSum=1.05;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1171	20	0	1	0
chr10	22003352	22003352	-	G	exonic	DNAJC1	.	frameshift insertion	DNAJC1:NM_022365:exon1:c.82dupC:p.R28Pfs*30,	.	.	301	1208	11	1	1	14	0.005352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0	0	0	0	0	0	0.0068	0.0001921	5	26028	.	0.0011	0.0011	0.0009	0.0014	0.0101	0.0011	0.0011	0.0094	0.0091	4.053e-05	0.0001	0	0	0.0007	0.0050	0.0007	0.0014	0.0101	0.0008	0.0008	0.0006	0.0010	0.0095	0.0007	0.0006	0.0073	0.0066	0.0001	0	6.549e-05	0	0	0.0003	0.0103	0.0009	0.0005	0.0095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	333.94	34	chr10	22003352	.	C	CG	333.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.090e-01;DP=723;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.95;ReadPosRankSum=1.25;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1171	20	0	1	0
chr10	23119314	23119314	A	C	exonic	MSRB2	.	nonsynonymous SNV	MSRB2:NM_012228:exon4:c.A307C:p.K103Q,	.	.	428	1071	23	0	0	23	0.0106236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.995	D	0.000	D	1.000	D	2.84	M	-1.87	D	0.634	D	0.760	D	0.583	2.779	15.25	4.43	1.061	5.728	11.905	0.806	.	0.0003	0.00379393	0.0035	0.0001	0.0005	0	0.0002	0.0009	0.0022	0.0213	0.002943	455	154602	rs199642000	0.0018	0.0018	0.0011	0.0024	0.0196	0.0017	0.0017	0.0188	0.0185	8.963e-05	0.0002	0.0065	0	0.0002	0.0064	0.0004	0.0025	0.0196	0.0010	0.0010	0.0009	0.0012	0.0197	0.0009	0.0008	0.0165	0.0153	7.223e-05	0	6.541e-05	0.0040	0.0004	9.425e-05	0.0034	0.0005	0.0009	0.0197	0.0	0.91255	D	0.003	0.76473	D	0.999	0.77913	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999881	0.50402	D	2.7	0.79018	M	-1.87	0.84415	D	-3.97	0.73684	D	0.315	0.35514	0.634	0.92344	D	0.760	0.91826	D	10	0.013112485	0.00279	T	.	.	.	0.806	0.93699	.	.	0.896146396389	0.89511	0.8778569973366543	0.87752	0.763234276875	0.64374	0.52319341898	0.42076	T	0.833005	0.96032	D	-0.1771	0.24167	T	-0.0115733	0.69581	D	0.0688186085758067	0.08485	T	0.987201	0.95630	D	0.84709096	0.87121	0.6830389	0.81369	0.84709096	0.87123	0.6830389	0.81370	-6.855	0.52967	T	.	.	0.864	0.80540	P	.	.	3.902745	0.56863	23.8	0.99530507365991661	0.69839	0.90500	0.51728	D	AEFBI	0.749189	0.69070	D	0.672426743593757	0.77827	6.75008	0.594542299440287	0.74546	6.155727	0.749345502362472	0.23334	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.57	4.43	0.52967	6.001000	0.70352	8.991000	0.78510	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.878000	0.41950	0.8409:0.1591:0.0:0.0	11.905	0.51990	864	0.32732	Peptide methionine sulphoxide reductase MrsB|Peptide methionine sulphoxide reductase MrsB|Peptide methionine sulphoxide reductase MrsB	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3080.11	37	chr10	23119314	.	A	C	3080.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-8.660e-01;DP=1223;ExcessHet=0.1072;FS=0.997;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=-2.750e-01;SOR=0.792	GT:AD:DP:GQ:PL	0/0:75,0:75:99:0,120,1800	19	0	2	0
chr10	23267212	23267212	C	A	exonic	C10orf67	.	nonsynonymous SNV	C10orf67:NM_001365862:exon9:c.G1021T:p.G341C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	.	.	.	.	0.308	N	1.000	N	.	.	.	.	-0.977	T	0.103	T	0.083	0.773	8.085	1.87	0.529	1.709	5.284	0.122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.549e-06	7.952e-06	0	6.576e-06	2.9e-05	5.9e-07	2.2e-07	.	.	0	2.9e-05	0	0	0	0	0	3.265e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.045	0.49390	D	.	.	.	.	.	.	0.308155	0.03997	N	1.496520	.	.	.	.	.	.	.	.	.	-1.04	0.27259	N	.	.	-0.9770	0.35683	T	0.103	0.37894	T	6	0.096079886	0.17209	T	.	.	.	0.122	0.33800	0.169	0.07419	0.112648838833	0.10856	.	.	.	.	.	.	.	0.003095	0.02494	T	-0.273208	0.11401	T	-0.630221	0.10399	T	0.3108811378479	0.25450	T	0.425957	0.11436	T	0.109117456	0.25798	0.06268047	0.12302	0.109117456	0.25798	0.06268047	0.12301	-5.14	0.38326	T	.	.	0.182	0.39545	B	.;.	.;.	2.600296	0.33751	19.43	0.91667992743866422	0.20958	0.09257	0.15049	N	AEFI	0.067645	0.13307	N	-0.473692469825267	0.22945	1.228731	-0.633100961276522	0.18645	0.9969327	2.01752958115187E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.83	1.87	0.24559	1.718000	0.37622	3.126000	0.36421	0.549000	0.26987	0.002000	0.15269	0.062000	0.22056	0.003000	0.05239	0.0:0.7163:0.0:0.2837	5.284	0.15000	780	0.47616	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	839.98	90	chr10	23267212	.	C	A	839.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=838;ExcessHet=0.0000;FS=3.992;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.33;ReadPosRankSum=0.861;SOR=0.908	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr10	23289946	23289946	A	G	exonic	C10orf67	.	nonsynonymous SNV	C10orf67:NM_001365862:exon7:c.T866C:p.I289T	.	.	426	1088	8	0	0	8	0.003663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	.	.	.	.	0.306	N	1.000	N	.	.	.	.	-1.049	T	0.058	T	0.057	1.007	9.111	4.8	2.274	0.509	4.167	0.042	.	.	0.00299521	0.0018	0.0011	0.0034	0	0	0.0011	0	0.0027	0.0004657	72	154602	rs186852463	0.0017	0.0015	0.0014	0.0019	0.0066	0.0016	0.0015	0.0047	0.0040	0.0001	0.0017	0	3.115e-05	8.354e-05	0.0066	0.0019	0.0014	0.0032	0.0015	0.0015	0.0015	0.0015	0.0048	0.0013	0.0013	0.0037	0.0034	0.0003	0	0.0046	0	0	0	0.0102	0.0017	0.0024	0.0048	0.166	0.23183	T	0.077	0.42436	T	.	.	.	.	.	.	0.305703	0.14520	N	0.654075	.	.	.	.	.	.	.	.	.	-0.29	0.11728	N	.	.	-1.0487	0.14761	T	0.058	0.24465	T	6	0.004864812	0.00104	T	.	.	.	0.042	0.11227	.	.	0.0846915920261	0.08053	.	.	.	.	.	.	.	0.012736	0.11141	T	-0.564398	0.00239	T	-0.587173	0.13912	T	0.0266930667140596	0.01501	T	0.526147	0.17328	T	0.06981948	0.15328	0.14953367	0.35303	0.06981948	0.15328	0.14953367	0.35302	-3.953	0.23098	T	.	.	0.707	0.73264	P	.;.	.;.	2.780716	0.36527	20.3	0.96159579152814789	0.28893	0.06859	0.12885	N	AEFI	0.054601	0.09943	N	-0.170364738195195	0.34372	1.961108	-0.191219741873578	0.31858	1.806917	2.08634886244057E-4	0.05948	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.94	4.8	0.61157	0.502000	0.22302	2.937000	0.35646	0.756000	0.94297	0.008000	0.17931	0.006000	0.19429	0.989000	0.64315	0.6813:0.1197:0.0702:0.1287	4.167	0.09776	789	0.46346	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	758.98	33	chr10	23289946	.	A	G	758.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.18;DP=767;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.40;ReadPosRankSum=0.852;SOR=0.650	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	20	0	1	0
chr10	23439492	23439492	C	T	exonic	OTUD1	.	nonsynonymous SNV	OTUD1:NM_001145373:exon1:c.C35T:p.P12L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.994	D	0.908	P	0.002	U	1.000	D	0.55	N	.	.	-0.796	T	0.169	T	0.261	3.657	18.59	2.25	1.245	3.116	10.583	0.107	0.796008780224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.209e-07	5.472e-06	0	1.672e-06	.	0	0	.	.	0	0	0	0	3.428e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.006	0.70582	D	0.994	0.66517	D	0.908	0.64494	P	0.001787	0.37998	U	0.000000	0.999929	0.51308	D	0.805	0.20218	L	.	.	.	-2.31	0.51319	N	0.493	0.52651	-0.7962	0.55368	T	0.169	0.50971	T	9	0.6328446	0.68615	D	0.796009	0.98401	D	0.107	0.30369	0.482	0.56302	0.35139820857	0.34749	0.45202923491465113	0.45120	.	.	0.823471903801	0.85561	D	0.038693	0.24931	T	-0.0683886	0.41585	T	-0.336012	0.40795	T	0.86104844861308	0.51147	D	0.562644	0.19782	T	0.20900461	0.43155	0.19611663	0.43325	0.20900461	0.43154	0.19611663	0.43324	-3.78	0.20506	T	.	.	0.716	0.73616	P	.	.	4.229368	0.64035	24.7	0.9979113353355189	0.87661	0.98678	0.85476	D	AEFDBHCIJ	0.115002	0.22630	N	0.12225847570012	0.47503	2.975091	0.0337151552867111	0.41293	2.478291	0.999999999687644	0.74766	0.56387	0.32371	0	0.218748	0.04544	0	0.503968	0.08637	0	0.621717	0.48901	0	.	.	2.25	2.25	0.27340	4.006000	0.56798	6.843000	0.56720	0.406000	0.20596	0.977000	0.34929	1.000000	0.68203	0.815000	0.38403	0.0:1.0:0.0:0.0	10.583	0.44457	921	0.19240	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	169.27	18	chr10	23439492	.	C	T	169.27	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.575e+00;DP=313;ExcessHet=0.0000;FS=6.264;InbreedingCoeff=-0.0365;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.39;ReadPosRankSum=1.49;SOR=0.061	GT:AD:DP:GQ:PL	0/0:17,0:17:48:0,48,720	20	0	1	0
chr10	23440245	23440245	C	T	exonic	OTUD1	.	nonsynonymous SNV	OTUD1:NM_001145373:exon1:c.C788T:p.P263L,	.	.	203	1312	6	1	0	8	0.00303951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.209	B	0.021	B	.	.	1.000	N	0.805	L	.	.	-1.050	T	0.067	T	0.035	2.316	13.70	1.85	0.201	-0.484	8.709	0.012	0.0112794055545	.	.	0.0028	0	0	0	0	0.0015	0	0.0040	0.000207	32	154602	rs749645076	0.0004	0.0004	0.0003	0.0005	0.0061	0.0004	0.0004	0.0045	0.0039	3.185e-05	5.652e-05	0.0010	0	0	0.0061	0.0002	0.0007	0.0033	0.0003	0.0003	0.0003	0.0003	0.0027	0.0002	0.0002	0.0016	0.0013	0	0	0	0.0017	0	0	0.0068	0.0004	0.0009	0.0027	0.192	0.20988	T	0.006	0.70582	D	0.209	0.29944	B	0.021	0.19346	B	.	.	.	.	0.999999	0.08975	N	0.695	0.17993	N	.	.	.	-1.9	0.44284	N	0.069	0.04188	-1.0496	0.14509	T	0.067	0.27708	T	8	0.0053355694	0.00117	T	0.011279	0.28743	T	0.012	0.01476	.	.	0.119812018005	0.11559	0.36097602261842837	0.36011	.	.	0.765099704266	0.76690	T	0.075149	0.35109	T	-0.648682	0.00074	T	-0.706984	0.05452	T	0.0207162377783938	0.00771	T	0.616438	0.23595	T	0.028851649	0.02286	0.054752514	0.09475	0.028851649	0.02285	0.054752514	0.09475	-5.011	0.36959	T	.	.	0.086	0.10883	B	.	.	0.766679	0.11363	7.981	0.92806038057374018	0.22330	0.04158	0.09649	N	AEFDBCIJ	0.021733	0.01002	N	-1.04791246307044	0.07628	0.3550172	-1.10232399593424	0.07656	0.3732527	0.99999959753848	0.74766	0.443343	0.08805	1	0.56911	0.20461	1	0.666236	0.60216	0	0.404113	0.06833	1	.	.	3.74	1.85	0.24418	-0.570000	0.05986	0.475000	0.18750	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.8028:0.0:0.1972	8.709	0.33533	921	0.19240	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	939.98	36	chr10	23440245	.	C	T	939.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.614;DP=816;ExcessHet=0.0000;FS=1.097;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.41;ReadPosRankSum=-3.190e-01;SOR=0.488	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr10	24473904	24473904	G	A	exonic	KIAA1217	.	nonsynonymous SNV	KIAA1217:NM_001282769:exon2:c.G677A:p.R226H	.	.	435	1062	23	2	0	27	0.0125523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.395	M	0.67	T	-0.416	T	0.263	T	0.84	4.670	25.8	5.37	2.522	9.040	19.094	0.531	.	0.0042	0.00279553	0.0057	0.0011	0.0034	0.0003	0.0032	0.0069	0.0044	0.0098	0.0056532	874	154602	rs41279868	0.0067	0.0067	0.0066	0.0067	0.0102	0.0066	0.0065	0.0097	0.0095	0.0011	0.0023	0.0024	5.038e-05	0.0042	0.0080	0.0072	0.0061	0.0102	0.0039	0.0039	0.0042	0.0037	0.0108	0.0037	0.0036	0.0085	0.0076	0.0007	0.0088	0.0024	0.0023	0.0002	0.0030	0.0068	0.0061	0.0061	0.0108	0.0	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.047397	0.999999	0.81001	D	2.485	0.72352	M	0.67	0.52187	T	-4.21	0.78046	D	0.783	0.81261	-0.4162	0.71513	T	0.263	0.63361	T	10	0.007798493	0.00177	T	.	.	.	0.531	0.80247	.	.	0.731578513301	0.72918	0.4624375204723641	0.46161	0.633570060492	0.57251	0.573865771294	0.49224	T	0.261078	0.89468	T	-0.0933595	0.37521	T	0.100938	0.76970	D	0.0433894866553355	0.04310	T	0.973903	0.93484	D	0.6997425	0.78042	0.53233963	0.72977	0.6997425	0.78044	0.53233963	0.72978	-8.704	0.76230	D	.	.	0.378	0.65221	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.210104	0.87424	29.2	0.99955902370276051	0.99975	0.99064	0.90698	D	AEFBCI	0.930736	0.91849	D	0.866259133105656	0.90014	10.21514	0.827265161731744	0.91621	10.98079	0.999999999319612	0.74766	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.37	5.37	0.76949	9.211000	0.94222	9.905000	0.82381	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.923000	0.45890	0.0:0.0:1.0:0.0	19.094	0.93225	943	0.12886	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1744.98	157	chr10	24473904	.	G	A	1744.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.13;DP=886;ExcessHet=0.0000;FS=0.615;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.11;ReadPosRankSum=1.82;SOR=0.784	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr10	24533161	24533161	C	T	exonic	KIAA1217	.	nonsynonymous SNV	KIAA1217:NM_001282769:exon11:c.C2387T:p.P796L	.	.	424	1092	6	0	0	6	0.00273973	.	.	712303	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.25	M	0.37	T	-0.354	T	0.344	T	0.719	4.400	23.3	5.5	2.758	2.464	15.248	0.204	.	7.7e-05	0.014377	0.0065	0.0002	8.643e-05	0.0001	0.0002	1.501e-05	0.0066	0.0469	0.0056791	878	154602	rs374052578	0.0026	0.0026	0.0015	0.0037	0.0418	0.0026	0.0025	0.0407	0.0402	0.0001	2.237e-05	3.826e-05	0.0002	0	0.0027	2.518e-05	0.0029	0.0418	0.0014	0.0014	0.0008	0.0019	0.0421	0.0012	0.0012	0.0374	0.0356	4.813e-05	0	6.542e-05	0	0.0002	0	0	0	0.0005	0.0421	0.001	0.78490	D	0.014	0.74150	D	0.985	0.90584	D	0.535	0.92359	P	0.000168	0.48594	D	0.183352	0.999998	0.58761	D	3.225	0.89467	M	0.37	0.57729	T	-4.45	0.77717	D	0.25	0.29659	-0.3542	0.73432	T	0.344	0.70956	T	10	0.003152907	0.00053	T	.	.	.	0.204	0.49076	.	.	0.733941746038	0.73157	0.31898618305290777	0.31811	0.453264928441	0.45020	0.383235931396	0.22715	T	0.622218	0.88174	D	-0.199018	0.20947	T	-0.0257958	0.68647	D	0.207521250215213	0.20823	T	0.920508	0.71260	D	0.20416829	0.42518	0.2791307	0.53879	0.20416829	0.42518	0.2791307	0.53878	-7.646	0.65491	D	.	.	0.068	0.05756	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.533528	0.49592	22.8	0.99885938527651286	0.96126	0.82877	0.42047	D	AEFDBI	0.377119	0.46101	N	0.23706804721704	0.53002	3.471266	0.213978792614642	0.50622	3.252374	0.999999719723584	0.74766	0.732398	0.92422	0	0.670034	0.63936	0	0.743671	0.96076	0	0.668105	0.65232	0	.	.	5.5	5.5	0.81386	3.343000	0.51884	3.747000	0.39671	0.599000	0.40250	0.939000	0.32602	0.997000	0.33255	0.402000	0.26827	0.0:1.0:0.0:0.0	15.248	0.73212	936	0.14734	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2389.11	34	chr10	24533161	.	C	T	2389.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.66;DP=865;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=0.890;SOR=0.663	GT:AD:DP:GQ:PL	0/1:63,43:106:99:1069,0,1581	19	0	2	0
chr10	24543815	24543815	A	C	exonic	KIAA1217	.	nonsynonymous SNV	KIAA1217:NM_019590:exon19:c.A4545C:p.Q1515H,	.	.	426	1092	4	0	0	4	0.00182815	.	.	2336819	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.846	P	0.465	P	0.558	N	1.000	N	1.1	L	1.91	T	-0.985	T	0.077	T	0.074	2.119	13.04	0.823	-0.118	0.227	9.773	0.059	0.0139899106435	0.0002	.	0.0002	0	0.0004	0	0	0.0002	0	0.0002	0.0001423	22	154602	rs141343728	0.0001	0.0001	0.0001	0.0002	0.0062	0.0001	0.0001	0.0046	0.0041	0.0001	0.0005	0	0	0	0.0062	0.0001	0.0005	0.0001	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0002	0.0002	0	0	0.0004	0	0	0	0.0136	0.0003	0.0009	0.0002	0.122	0.27663	T	0.151	0.32355	T	0.755	0.46778	P	0.465	0.46596	P	0.558033	0.05408	N	1.229040	1	0.08975	N	2.045	0.56016	M	1.91	0.31205	T	0.36	0.04947	N	0.098	0.08925	-0.9853	0.33760	T	0.077	0.30920	T	10	0.04715109	0.03996	T	0.01399	0.33799	T	0.059	0.16972	0.16	0.06396	0.344017737713	0.34012	0.18654690842617375	0.18572	0.307317501305	0.33031	0.209153756499	0.00776	T	0.067832	0.33303	T	-0.555539	0.00270	T	-0.677189	0.07156	T	0.0197423976264534	0.00676	T	0.669833	0.27843	T	0.034113314	0.03764	0.040042978	0.04236	0.034113314	0.03764	0.040042978	0.04236	-4.081	0.25819	T	.	.	0.147	0.32541	B	.;.	.;.	1.351405	0.17589	13.25	0.95896564359609093	0.28117	0.20460	0.21049	N	AEFDBCI	0.209405	0.33539	N	-0.755424699966197	0.14486	0.7220121	-0.881731736427252	0.12526	0.6448887	0.775935463927443	0.23752	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.46	0.823	0.17950	0.741000	0.25870	0.705000	0.20878	-1.292000	0.01254	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.5161:0.0:0.4839:0.0	9.773	0.39771	939	0.14249	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1743.98	40	chr10	24543815	.	A	C	1743.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.660e-01;DP=1310;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=0.650;SOR=0.754	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	20	0	1	0
chr10	24545915	24545915	G	A	exonic	KIAA1217	.	nonsynonymous SNV	KIAA1217:NM_001321681:exon14:c.G2777A:p.S926N	.	.	.	.	.	.	.	.	.	.	.	3455648	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	0.536	P	0.14	B	0.000	D	1.000	D	1.21	L	1.56	T	-1.066	T	0.077	T	0.226	3.016	16.06	5.53	2.598	4.977	8.718	0.053	0.00633158486962	.	0.000199681	3.296e-05	0	0	0	0	2.998e-05	0	0.0001	3.23e-05	5	154602	rs545180311	2.189e-05	2.189e-05	1.361e-05	3.025e-05	0.0007	1.584e-05	1.356e-05	0.0002	0.0001	0	0	0	0	0	0.0007	9.892e-06	9.934e-05	0.0001	1.971e-05	1.969e-05	2.571e-05	1.344e-05	0.0004	5.24e-06	2.45e-06	7.31e-05	3.036e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.077	0.91255	T	0.134	0.47097	T	0.084	0.37531	B	0.037	0.30313	B	0.000135	0.49741	D	0.199757	1	0.81001	D	1.555	0.39373	L	1.3	0.38556	T	-1.3	0.32590	N	0.126	0.11912	-1.0662	0.10269	T	0.077	0.30737	T	10	0.08233681	0.13579	T	0.006332	0.16639	T	0.053	0.14996	0.153	0.05648	0.575946966538	0.57263	0.3218137895592589	0.32094	0.547987055301	0.51764	0.485706955194	0.36844	T	0.127453	0.45448	T	-0.257768	0.13163	T	-0.405388	0.32757	T	0.405718564987183	0.29157	T	0.89581	0.67793	D	0.095315605	0.22428	0.10007328	0.23916	0.095315605	0.22428	0.10007328	0.23916	-5.825	0.45588	T	.	.	0.189	0.50736	B	.;.;.;.;.	.;.;.;.;.	4.162845	0.62525	24.5	0.99543315951470945	0.70648	0.90347	0.51450	D	AEFBCI	0.722066	0.67211	D	0.163979913700464	0.49476	3.147531	0.32638132038902	0.57095	3.874157	0.998078315416526	0.36393	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.53	5.53	0.82530	5.075000	0.64235	9.792000	0.81650	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0827:0.2011:0.7162:0.0	8.718	0.33582	941	0.13089	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1907.98	174	chr10	24545915	.	G	A	1907.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.36;DP=901;ExcessHet=0.0000;FS=0.574;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.97;ReadPosRankSum=-7.610e-01;SOR=0.769	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1259	20	0	1	0
chr10	25412396	25412396	A	G	exonic	GPR158	.	nonsynonymous SNV	GPR158:NM_020752:exon4:c.A1258G:p.I420V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.009	B	0.000	D	0.999	D	-0.255	N	0.18	T	-0.979	T	0.087	T	0.589	0.443	6.407	6.16	2.367	4.708	16.806	0.171	0.00580834291211	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1399001129	2.053e-06	1.026e-05	2.724e-06	1.376e-06	2.236e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	2.236e-05	0	0	0	0	1.8e-06	0	0	6.57e-06	6.567e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.92	0.02309	T	1.0	0.01155	T	0.008	0.14655	B	0.009	0.14300	B	0.000003	0.62929	D	0.000000	0.999426	0.47006	D	0.6	0.15550	N	0.18	0.60361	T	0.44	0.03243	N	0.27	0.30574	-0.9792	0.35186	T	0.087	0.33662	T	10	0.1521804	0.28750	T	0.005808	0.15101	T	0.171	0.43483	0.448	0.50793	0.161926535498	0.15789	0.3829631867473734	0.38211	0.0840598745579	0.09481	0.538012385368	0.44165	T	0.017669	0.14377	T	-0.0274371	0.47788	T	-0.277188	0.47092	T	0.737176895141602	0.42586	D	0.822218	0.48193	T	0.105158724	0.24861	0.12171046	0.29365	0.105158724	0.24861	0.12171046	0.29364	-5.917	0.45579	T	.	.	0.067	0.04932	B	.;.	.;.	2.077376	0.26423	17.11	0.68464587669978927	0.08666	0.88581	0.48576	D	AEFI	0.384824	0.46580	N	-0.305378770948769	0.28943	1.600737	-0.0121809945739852	0.39164	2.317966	0.184655415091531	0.17919	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.16	6.16	0.99302	4.720000	0.61636	9.251000	0.79490	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	16.806	0.85530	832	0.38914	.;GPCR family 3, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05	295.79	34	chr10	25412396	.	A	G	295.79	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-3.488e+00;DP=1306;ExcessHet=0.1072;FS=138.745;InbreedingCoeff=-0.0630;MLEAC=2;MLEAF=0.050;MQ=60.00;MQRankSum=0.00;QD=1.34;ReadPosRankSum=0.106;SOR=9.022	GT:AD:DP:GQ:PL	0/0:100,21:121:37:0,37,2085	18	0	2	1
chr10	25572771	25572771	C	T	exonic	GPR158	.	nonsynonymous SNV	GPR158:NM_020752:exon7:c.C1637T:p.S546L,	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.277	B	0.411	B	0.014	N	1.000	D	1.04	L	-2.14	D	-0.292	T	0.534	D	0.744	3.545	18.09	5.78	2.736	7.818	13.248	0.507	0.0548278684697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.841e-07	0	1.376e-06	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.16683	T	0.301	0.20293	T	0.277	0.31978	B	0.411	0.44827	B	0.013743	0.28743	N	0.300130	0.999879	0.50225	D	1.53	0.38800	L	-2.14	0.86415	D	-1.12	0.28906	N	0.768	0.76573	-0.2918	0.75215	T	0.534	0.82753	D	10	0.60074055	0.66897	D	0.054828	0.66003	D	0.507	0.78786	0.591	0.71999	0.278932316844	0.27492	0.7261214462571747	0.72556	0.124840994867	0.14065	0.50876224041	0.40049	T	0.090776	0.38657	T	0.188167	0.72795	D	0.0325125	0.72441	D	0.875440895557404	0.52531	D	0.931007	0.74365	D	0.14532539	0.33318	0.14477456	0.34359	0.14532539	0.33317	0.14477456	0.34358	-9.396	0.70210	D	.	.	0.073	0.14979	B	.;.	.;.	4.421288	0.68481	25.2	0.99790499439940838	0.87661	0.98017	0.78904	D	AEFI	0.845175	0.76210	D	0.18576858990655	0.50516	3.240833	0.357466119751831	0.58957	4.069875	0.991517645519761	0.32514	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.78	5.78	0.91418	6.140000	0.71491	4.872000	0.45577	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9275:0.0:0.0724	13.248	0.59460	883	0.28872	.;GPCR family 3, C-terminal|GPCR family 3, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2474.98	35	chr10	25572771	.	C	T	2474.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.587e+00;DP=892;ExcessHet=0.0000;FS=1.157;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.38;ReadPosRankSum=-2.670e-01;SOR=0.584	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1480	20	0	1	0
chr10	25598095	25598095	C	A	exonic	GPR158	.	nonsynonymous SNV	GPR158:NM_020752:exon11:c.C2469A:p.H823Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.948	P	0.804	P	0.000	D	0.578	N	1.56	L	-0.05	T	-0.358	T	0.250	T	0.795	3.560	18.15	-9.88	-1.790	-0.750	20.596	0.388	0.0115259415862	.	.	.	.	.	.	.	.	.	.	.	.	.	rs370087506	2.737e-06	2.736e-06	4.084e-06	1.375e-06	0.0003	6.4e-07	4.3e-07	6.092e-05	2.521e-05	0	2.236e-05	0	0	0	0.0003	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.21801	T	0.1	0.38742	T	0.948	0.53620	P	0.804	0.58350	P	0.000003	0.62929	D	0.000000	0.578165	0.31122	N	2.585	0.75554	M	-0.05	0.63403	T	-3.51	0.68298	D	0.601	0.61933	-0.3579	0.73325	T	0.250	0.61923	T	10	0.49187222	0.61039	T	0.011526	0.29247	T	0.388	0.70440	0.412	0.44887	0.429369812208	0.42556	0.31562839171971935	0.31475	0.451291634778	0.44877	0.658982276917	0.61264	T	0.182703	0.53480	T	-0.0553688	0.43628	T	-0.141463	0.59990	T	0.925525844097137	0.58729	D	0.689231	0.29860	T	0.22993605	0.45739	0.30635294	0.56660	0.22993605	0.45739	0.30635294	0.56659	-8.367	0.63545	D	.	.	0.442	0.61827	A	.;.	.;.	-0.865107	0.00985	0.040	0.97093561320198618	0.32336	0.22439	0.21747	N	AEFBI	0.276311	0.39107	N	-0.871066522950126	0.11534	0.5571673	-1.10726082736591	0.07561	0.3682379	0.542474033080594	0.21264	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.88	-9.88	0.00387	-0.577000	0.05940	-13.273000	0.00469	-1.633000	0.00850	0.143000	0.23551	0.000000	0.08366	0.770000	0.36519	0.0:0.1702:0.0:0.8298	20.596	0.99453	898	0.25240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1926.98	33	chr10	25598095	.	C	A	1926.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.29;DP=833;ExcessHet=0.0000;FS=1.315;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.48;ReadPosRankSum=-5.530e-01;SOR=0.618	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1200	20	0	1	0
chr10	26219214	26219214	C	A	exonic	GAD2	.	nonsynonymous SNV	GAD2:NM_000818:exon4:c.C458A:p.P153Q	.	.	428	1078	16	0	0	16	0.00736648	.	.	712309	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.999	D	0.000	D	1.000	D	2.905	M	1.08	T	-0.284	T	0.336	T	0.753	4.744	26.5	5.61	2.621	7.487	19.644	0.447	.	0.0055	0.00279553	0.0061	0.0016	0.0014	0	0.0126	0.0085	0.0022	0.0030	0.006009	929	154602	rs2839672	0.0067	0.0068	0.0068	0.0067	0.0076	0.0066	0.0066	0.0075	0.0074	0.0009	0.0015	0.0035	2.521e-05	0.0098	0.0021	0.0076	0.0059	0.0033	0.0052	0.0052	0.0053	0.0051	0.0080	0.0049	0.0048	0.0075	0.0072	0.0011	0.0175	0.0020	0.0037	0.0002	0.0108	0.0034	0.0080	0.0033	0.0037	0.014	0.53172	D	0.019	0.59159	D	0.991	0.64070	D	0.852	0.60758	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.025	0.86340	M	1.08	0.39401	T	-4.58	0.78807	D	0.804	0.79986	-0.2836	0.75442	T	0.336	0.70240	T	10	0.009708941	0.00218	T	.	.	.	0.447	0.74866	.	.	0.592885698768	0.58965	0.8913585188844813	0.89105	1.15829965559	0.79406	0.628985524178	0.57000	T	0.812563	0.95331	D	-0.155418	0.27467	T	0.0143647	0.71265	D	0.0168037882224415	0.00435	T	0.956904	0.88371	D	0.7838858	0.82893	0.7812087	0.87103	0.7838858	0.82895	0.7812087	0.87104	-9.146	0.68632	D	.	.	0.730	0.74185	P	.;.;.	.;.;.	5.013893	0.83284	28.0	0.99249905503777203	0.56825	0.98686	0.85574	D	AEFBI	0.957131	0.97612	D	0.887826233389038	0.91152	10.74023	0.85406466692396	0.93253	11.92113	0.999999999992282	0.74766	0.549168	0.22868	0	0.563428	0.19063	0	0.590023	0.30420	0	0.530356	0.10902	0	.	.	5.61	5.61	0.85347	7.568000	0.81546	7.628000	0.62604	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.644	0.95762	666	0.61362	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1576.98	34	chr10	26219214	.	C	A	1576.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.781e+00;DP=810;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=0.130;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1094	20	0	1	0
chr10	26224622	26224622	G	A	exonic	GAD2	.	nonsynonymous SNV	GAD2:NM_000818:exon6:c.G695A:p.G232E	.	.	415	1103	4	0	0	4	0.00180995	.	.	701298	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.32	T	0.046	B	0.014	B	0.000	D	1.000	D	-0.495	N	1.21	T	-1.082	T	0.034	T	0.129	0.683	7.650	5.21	2.446	6.188	18.788	0.073	.	0.0075	0.00359425	0.0067	0.0013	0.0023	0	0.0086	0.0101	0.0066	0.0022	0.0066041	1021	154602	rs2839673	0.0080	0.0080	0.0082	0.0078	0.0090	0.0079	0.0078	0.0088	0.0087	0.0015	0.0029	0.0141	0	0.0093	0.0024	0.0090	0.0082	0.0025	0.0059	0.0059	0.0058	0.0060	0.0087	0.0056	0.0054	0.0082	0.0079	0.0016	0	0.0043	0.0118	0	0.0096	0.0034	0.0087	0.0081	0.0025	0.467	0.08559	T	1.0	0.01155	T	0.046	0.21875	B	0.014	0.16862	B	0.000003	0.62929	D	0.119241	1	0.81001	D	-0.55	0.02420	N	1.21	0.37230	T	0.29	0.04161	N	0.282	0.32037	-1.0817	0.07022	T	0.034	0.14421	T	10	0.0071927905	0.00164	T	.	.	.	0.073	0.21317	.	.	0.102598925029	0.09809	0.884749248604161	0.88442	0.519325346913	0.49757	0.613496363163	0.54809	T	0.244947	0.61416	T	-0.555905	0.00269	T	-0.564472	0.15961	T	0.0251972563727982	0.01298	T	0.916108	0.70062	D	0.31730086	0.54410	0.33986452	0.59746	0.31730086	0.54410	0.33986452	0.59745	-8.459	0.64157	D	.	.	0.097	0.20972	B	.;.;.	.;.;.	2.747327	0.36003	20.1	0.79017217796254569	0.12553	0.92564	0.56008	D	AEFBI	0.662828	0.63256	D	-0.161256440077824	0.34758	1.987812	0.0827844949828894	0.43681	2.66503	0.01991065545891	0.13207	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	5.21	5.21	0.72005	6.267000	0.72514	10.035000	0.83175	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.788	0.91927	655	0.62421	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1358.98	35	chr10	26224622	.	G	A	1358.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.88;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.44;ReadPosRankSum=0.910;SOR=0.701	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr10	26567075	26567075	G	T	exonic	APBB1IP	.	nonsynonymous SNV	APBB1IP:NM_019043:exon15:c.G1588T:p.G530C,	.	.	406	1113	3	0	0	3	0.0013459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.0	B	0.001	B	0.753	N	1.000	N	1.52	L	1.49	T	-1.006	T	0.033	T	0.151	1.604	11.32	-9.89	-1.746	-3.489	3.704	0.042	.	0.0042	0.00199681	0.0072	0.0021	0.0022	0	0.0084	0.0108	0.0053	0.0053	0.002652	410	154602	rs200232575	0.0064	0.0061	0.0064	0.0064	0.0073	0.0063	0.0063	0.0072	0.0071	0.0010	0.0017	0.0011	0	0.0041	0.0010	0.0073	0.0054	0.0033	0.0047	0.0047	0.0050	0.0045	0.0082	0.0044	0.0043	0.0076	0.0074	0.0018	0	0.0022	0.0009	0.0002	0.0024	0	0.0082	0.0034	0.0030	0.241	0.17643	T	0.079	0.42086	T	0.0	0.02946	B	0.001	0.04355	B	0.752692	0.06494	N	1.130080	1	0.08975	N	1.04	0.26193	L	1.49	0.31470	T	-1.18	0.30140	N	0.059	0.03069	-1.0063	0.28065	T	0.033	0.14073	T	10	0.0038218796	0.00072	T	.	.	.	0.042	0.11227	.	.	0.262679179196	0.25893	0.2550504373776943	0.25419	0.529237098308	0.50493	0.506000995636	0.39664	T	0.011365	0.10151	T	-0.633828	0.00091	T	-0.675407	0.07267	T	0.012738279738062	0.00215	T	0.591241	0.21771	T	0.05675784	0.11210	0.03394631	0.02375	0.05675784	0.11210	0.03394631	0.02374	-5.455	0.41445	T	.	.	0.082	0.08705	B	.	.	-0.898387	0.00929	0.035	0.79129449897363546	0.12603	0.03345	0.08429	N	AEFDGBCI	0.161385	0.28744	N	-1.82315007741465	0.00491	0.02112745	-1.96386363715688	0.00364	0.01609082	0.999999990196672	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.94	-9.89	0.00384	-3.997000	0.00358	-1.906000	0.04518	-2.219000	0.00349	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4263:0.0731:0.3854:0.1151	3.704	0.07924	638	0.64280	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	319.98	37	chr10	26567075	.	G	T	319.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.270e-01;DP=658;ExcessHet=0.0000;FS=1.205;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.27;ReadPosRankSum=-9.280e-01;SOR=0.639	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,858	20	0	1	0
chr10	26567171	26567171	C	T	exonic	APBB1IP	.	nonsynonymous SNV	APBB1IP:NM_019043:exon15:c.C1684T:p.P562S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.84	T	0.629	P	0.18	B	0.413	N	1.000	N	2.36	M	1.46	T	-0.969	T	0.085	T	0.243	2.237	13.44	2.67	1.094	0.122	10.184	0.114	0.172833222277	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1177941423	4.728e-06	1.095e-05	1.55e-06	8.016e-06	4.482e-05	1.7e-06	1.12e-06	1.19e-05	6.3e-06	0	0	0	0	0	0	1.95e-06	1.924e-05	4.482e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.773	0.03354	T	0.092	0.39954	T	0.629	0.40170	P	0.18	0.35854	B	0.412779	0.04601	N	1.369210	0.999999	0.08975	N	2.645	0.77386	M	1.46	0.32238	T	-2.96	0.61722	D	0.129	0.12341	-0.9686	0.37489	T	0.085	0.33043	T	10	0.14553428	0.27605	T	0.172833	0.84970	D	0.114	0.32008	0.398	0.42590	0.492666920005	0.48899	0.17324054997876093	0.17244	1.03979840505	0.75756	0.742214620113	0.73299	T	0.154299	0.49553	T	-0.202229	0.20483	T	-0.528264	0.19461	T	0.614915549755096	0.36999	D	0.442656	0.12286	T	0.07667688	0.17355	0.08458003	0.19466	0.07667688	0.17355	0.08458003	0.19466	-4.88	0.35509	T	.	.	0.084	0.09578	B	.	.	1.614045	0.20623	14.83	0.99353259876929267	0.60697	0.08084	0.14055	N	AEFDBCI	0.107727	0.21453	N	-0.652126553131651	0.17399	0.8949553	-0.778073534526349	0.15033	0.7885858	0.97793915068463	0.29870	0.651	0.46895	0	0.708844	0.79440	0	0.378051	0.06126	2	0.554799	0.18163	0	.	.	3.58	2.67	0.30756	0.077000	0.14593	2.219000	0.31434	0.279000	0.18609	0.000000	0.06391	0.038000	0.21505	0.045000	0.14751	0.0:0.8973:0.0:0.1027	10.184	0.42160	638	0.64280	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	595.98	39	chr10	26567171	.	C	T	595.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.977;DP=663;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.28;ReadPosRankSum=-2.228e+00;SOR=0.824	GT:AD:DP:GQ:PL	0/0:37,0:37:94:0,94,884	20	0	1	0
chr10	27017749	27017749	C	T	exonic	ANKRD26	.	nonsynonymous SNV	ANKRD26:NM_001256053:exon30:c.G4256A:p.C1419Y	Thrombocytopenia 2, Autosomal dominant	.	156	1337	25	4	0	33	0.0121906	.	.	207737	not_specified|Thrombocytopenia_2|ANKRD26-related_disorder|not_provided	MedGen:CN169374|MONDO:MONDO:0008555,MedGen:C1861185,OMIM:188000,Orphanet:268322|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.67	T	0.998	D	0.994	D	0.005	U	0.500	D	1.475	L	-1.15	T	-0.409	T	0.394	T	0.666	0.989	9.037	0.708	0.171	0.032	2.950	0.452	.	0.0014	0.00439297	0.0035	0.0004	0.0042	0	0.0012	0.0024	0.0089	0.0120	0.0032147	497	154602	rs146159734	0.0024	0.0024	0.0021	0.0027	0.0193	0.0023	0.0023	0.0164	0.0153	0.0007	0.0034	0.0024	2.527e-05	0.0015	0.0193	0.0017	0.0030	0.0104	0.0017	0.0017	0.0016	0.0018	0.0102	0.0015	0.0015	0.0079	0.0071	0.0004	0	0.0034	0.0026	0.0002	0.0008	0.0204	0.0016	0.0047	0.0102	0.095	0.35537	T	0.241	0.24334	T	.	.	.	.	.	.	0.004845	0.33331	U	0.169196	0.500123	0.31734	D	.	.	.	-1.15	0.77964	T	-7.14	0.94073	D	0.31	0.34981	-0.4094	0.71730	T	0.394	0.74706	T	10	0.01960659	0.00440	T	.	.	.	0.452	0.75211	.	.	0.523806315272	0.52025	0.0441974741003335	0.04363	0.0878064292668	0.09913	0.428612112999	0.29019	T	.	.	.	-0.2505	0.14037	T	-0.123207	0.61538	T	0.0218834906538314	0.00896	T	0.806819	0.45619	T	0.28968933	0.51963	0.37452072	0.62616	0.34960562	0.57037	0.51294774	0.71856	-7.384	0.56792	T	.	.	0.118	0.26825	B	.;.	.;.	2.132235	0.27144	17.36	0.67903168442057171	0.08495	0.11980	0.16984	N	AEFBI	0.074665	0.14971	N	-0.714204205558044	0.15621	0.7888936	-0.82370555127283	0.13921	0.7247595	6.57694041039541E-5	0.04366	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.83	0.708	0.17301	0.113000	0.15333	-0.851000	0.07178	0.578000	0.29377	0.052000	0.21487	0.000000	0.08366	0.405000	0.26894	0.3432:0.3953:0.0:0.2615	2.950	0.05499	834	0.38640	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	940.98	34	chr10	27017749	.	C	T	940.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.579;DP=770;ExcessHet=0.0000;FS=7.674;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.26;ReadPosRankSum=-1.155e+00;SOR=1.750	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1320	20	0	1	0
chr10	27040008	27040008	C	G	exonic	ANKRD26	.	nonsynonymous SNV	ANKRD26:NM_001256053:exon21:c.G2329C:p.E777Q	Thrombocytopenia 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	429057	not_provided|Thrombocytopenia_2|not_specified	MedGen:C3661900|MONDO:MONDO:0008555,MedGen:C1861185,OMIM:188000,Orphanet:268322|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.998	D	0.991	D	0.002	N	0.742	D	2.35	M	2.05	T	-0.816	T	0.093	T	0.108	3.372	17.37	3.32	0.669	3.895	9.765	0.143	0.00804337735528	0.0031	0.000998403	0.0024	0.0009	0.0002	0	0.0032	0.0038	0.0011	0.0004	0.0024709	382	154602	rs139949439	0.0033	0.0033	0.0033	0.0033	0.0039	0.0032	0.0032	0.0038	0.0037	0.0003	0.0003	0.0034	0	0.0039	0.0012	0.0039	0.0025	0.0004	0.0024	0.0024	0.0025	0.0023	0.0040	0.0022	0.0021	0.0036	0.0034	0.0007	0	0.0003	0.0043	0	0.0038	0.0034	0.0040	0.0014	0.0004	0.011	0.57480	D	0.016	0.60972	D	.	.	.	.	.	.	0.001626	0.38439	N	0.107097	0.742407	0.33837	D	.	.	.	2.05	0.20664	T	-2.33	0.51646	N	0.22	0.24634	-0.8159	0.54189	T	0.093	0.35363	T	10	0.009538174	0.00215	T	0.008043	0.21316	T	0.143	0.38195	.	.	0.191931220699	0.18833	0.021920457238004763	0.02144	0.321927182123	0.34392	0.471723377705	0.34917	T	.	.	.	-0.529621	0.00386	T	-0.532725	0.19015	T	0.0117877763103769	0.00182	T	0.757524	0.40183	T	0.23643762	0.46494	0.12840404	0.30892	0.2508831	0.48093	0.20584676	0.44771	-8.362	0.63512	D	.	.	0.184	0.44961	B	.;.	.;.	4.127530	0.61742	24.4	0.99633567398057377	0.76203	0.87344	0.46855	D	AEFBI	0.215577	0.34092	N	0.350702770356115	0.58776	4.052094	0.226348051063712	0.51313	3.315016	7.51589156617231E-4	0.07758	0.651	0.46895	0	0.708844	0.79440	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	5.18	3.32	0.37134	3.955000	0.56422	0.778000	0.21455	0.541000	0.25215	1.000000	0.71638	0.003000	0.18671	0.998000	0.85391	0.0:0.8287:0.0:0.1713	9.765	0.39722	690	0.58899	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	753.98	34	chr10	27040008	.	C	G	753.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.388;DP=755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.05;ReadPosRankSum=0.542;SOR=0.678	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr10	27186516	27186516	G	A	exonic	MASTL	.	nonsynonymous SNV	MASTL:NM_001172304:exon11:c.G2503A:p.V835I	.	.	0	1473	47	2	0	51	0.017017	.	.	712315	not_provided|Thrombocytopenia_2|Thrombocytopenia	MedGen:C3661900|MONDO:MONDO:0008555,MedGen:C1861185,OMIM:188000,Orphanet:268322|Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.23	T	0.031	B	0.026	B	0.000	N	0.999	D	0.895	L	-0.11	T	-0.999	T	0.126	T	0.102	2.413	14.03	2.79	0.320	2.168	10.103	0.078	0.00997056963759	0.0037	0.00139776	0.0044	0.0013	0.0016	0.0001	0.0002	0.0055	0.0077	0.0075	0.0040491	626	154602	rs138288481	0.0048	0.0048	0.0048	0.0049	0.0072	0.0047	0.0047	0.0067	0.0065	0.0012	0.0019	0.0121	2.52e-05	0.0002	0.0061	0.0050	0.0058	0.0072	0.0036	0.0036	0.0036	0.0035	0.0077	0.0033	0.0032	0.0057	0.0050	0.0011	0.0022	0.0033	0.0136	0	0.0004	0.0102	0.0051	0.0028	0.0077	0.203	0.20154	T	0.171	0.30339	T	0.011	0.20130	B	0.016	0.20792	B	0.000006	0.62929	N	0.106801	0.996275	0.45878	D	1.53	0.38800	L	-0.28	0.67543	T	-0.34	0.13805	N	0.061	0.08366	-0.9986	0.30311	T	0.126	0.43112	T	10	0.0049705505	0.00107	T	0.009971	0.25946	T	0.078	0.22779	.	.	0.371531589858	0.36766	0.1272268554561651	0.12648	0.0910169347132	0.10278	0.316755950451	0.12930	T	0.006687	0.06116	T	-0.498078	0.00586	T	-0.483104	0.24118	T	0.00412092111472847	0.00044	T	0.812919	0.48860	T	0.019913116	0.00533	0.0360601	0.02977	0.019913116	0.00532	0.0360601	0.02977	-5.82	0.52231	T	.	.	0.073	0.07697	B	.;.;.;.	.;.;.;.	1.094405	0.14780	11.32	0.95402752632936616	0.26857	0.91252	0.53159	D	AEFBI	0.103222	0.20687	N	-0.449366988897339	0.23761	1.278292	-0.341345716934986	0.26776	1.481296	0.146633193900005	0.17370	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.63	2.79	0.31792	2.239000	0.42728	0.193000	0.15765	0.656000	0.54149	0.995000	0.38783	0.001000	0.17328	0.935000	0.47363	0.2174:0.0:0.7826:0.0	10.103	0.41688	804	0.43891	.;AGC-kinase, C-terminal;.;AGC-kinase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1951.98	60	chr10	27186516	.	G	A	1951.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.486;DP=1226;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.59;ReadPosRankSum=0.298;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485	20	0	1	0
chr10	27204498	27204498	T	C	exonic	ACBD5	.	nonsynonymous SNV	ACBD5:NM_001301254:exon9:c.A976G:p.I326V	.	.	.	.	.	.	.	.	.	.	.	1077011	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.41	T	0.783	P	0.205	B	0.000	N	0.924	D	1.525	L	2.37	T	-1.052	T	0.061	T	0.145	0.694	7.706	2.04	0.446	-0.091	9.973	0.011	0.00312484831803	.	.	0.0004	0	0.0045	0	0	0	0	0	0.0003363	52	154602	rs772621096	9.03e-05	9.029e-05	9.393e-05	8.663e-05	0.0029	7.756e-05	7.3e-05	0.0025	0.0023	0	0.0029	0	0	0	0	1.799e-06	3.312e-05	0	7.884e-05	7.88e-05	0.0001	4.034e-05	0.0008	4.496e-05	3.512e-05	0.0005	0.0004	0	0	0.0008	0	0	0	0	0	0	0	0.254	0.17701	T	0.395	0.15255	T	0.783	0.44368	P	0.205	0.37080	B	0.000305	0.45977	N	0.241877	0.570854	0.36749	D	2.06	0.56677	M	2.36	0.34253	T	-0.39	0.14193	N	0.284	0.32148	-1.0522	0.13790	T	0.061	0.25383	T	10	0.009190261	0.00208	T	0.003125	0.06786	T	0.011	0.01250	.	.	0.442775082573	0.43898	0.09757736381252521	0.09688	0.107368357967	0.12116	0.484681159258	0.36702	T	0.014771	0.12515	T	-0.531338	0.00377	T	-0.538112	0.18482	T	0.0452595222798661	0.04650	T	0.850515	0.54589	D	0.03167814	0.03051	0.048455138	0.07201	0.042955823	0.06609	0.042826634	0.05189	-4.152	0.32559	T	0.0921755191099624	0.05928	0.066	0.04198	B	.;.;.;.;.	.;.;.;.;.	1.301724	0.17036	12.92	0.82080041629631928	0.14008	0.36703	0.25594	N	AEFBI	0.108111	0.21518	N	-0.431662278019326	0.24366	1.315145	-0.372333690979298	0.25825	1.422623	0.00693316079243253	0.11345	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.71	2.04	0.25787	0.006000	0.13051	0.452000	0.18532	0.665000	0.62972	0.504000	0.26986	0.999000	0.35428	0.949000	0.49496	0.0:0.3326:0.0:0.6674	9.973	0.40939	784	0.47045	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	70.44	105	chr10	27204498	.	T	C	70.44	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.544e+00;DP=945;ExcessHet=0.3300;FS=154.535;InbreedingCoeff=-0.0739;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.26;ReadPosRankSum=2.03;SOR=7.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,16:90:9:0|1:27204498_T_C:9,0,2233:27204498	18	0	3	0
chr10	27219780	27219780	C	T	exonic	ACBD5	.	nonsynonymous SNV	ACBD5:NM_001301252:exon4:c.G241A:p.E81K	.	.	.	.	.	.	.	.	.	.	.	1156406	ACBD5-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.17	T	1.0	D	0.999	D	0.000	D	1.000	D	1.995	M	2.24	T	0.195	D	0.619	D	0.84	4.712	26.2	5.82	2.744	5.237	20.090	0.150	.	.	0.00279553	0.0006	0	0	0.0067	0	0	0	0.0005	0.0005498	85	154602	rs187831118	0.0002	0.0002	0.0002	0.0002	0.0055	0.0002	0.0002	0.0049	0.0047	5.974e-05	0	0	0.0055	0	0	3.597e-06	0.0004	0.0003	0.0004	0.0004	0.0003	0.0005	0.0108	0.0003	0.0003	0.0085	0.0077	2.406e-05	0	0	0	0.0108	0	0	1.47e-05	0.0005	0.0002	0.217	0.55530	T	0.194	0.37589	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.088743	0.999989	0.58761	D	2.46	0.71463	M	-1.77	0.83660	D	-1.61	0.42001	N	0.683	0.68950	0.195	0.85827	D	0.619	0.86572	D	10	0.008734107	0.00198	T	.	.	.	0.150	0.39571	.	.	0.900373628898	0.89938	0.1741435717926579	0.17333	0.570475705165	0.53203	0.61469233036	0.54979	T	0.02164	0.17591	T	-0.0176852	0.49182	T	0.207793	0.83548	D	0.0907421878946646	0.11306	T	0.966403	0.89831	D	0.26098585	0.49156	0.30352083	0.56383	0.2262312	0.45300	0.32600424	0.58510	-6.838	0.54129	T	0.27352174704676635	0.36757	0.315	0.63258	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.897387	0.80468	27.3	0.99931413979516326	0.99387	0.94964	0.62946	D	AEFBI	0.608228	0.59789	D	0.75256814956233	0.83073	7.922528	0.754768603611843	0.86511	8.913314	0.999992713874871	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.82	5.82	0.92740	5.333000	0.65692	7.540000	0.60069	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	20.090	0.97813	740	0.53092	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	906.98	35	chr10	27219780	.	C	T	906.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.290e-01;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.86;ReadPosRankSum=2.41;SOR=0.720	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1224	20	0	1	0
chr10	27240384	27240384	G	A	exonic	ACBD5	.	nonsynonymous SNV	ACBD5:NM_001271512:exon1:c.C110T:p.T37M	.	.	420	1078	23	1	0	25	0.0114626	.	.	737443	ACBD5-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.927	D	0.005	N	1.000	D	0.895	L	2.4	T	-0.990	T	0.108	T	0.256	4.605	25.1	4.87	2.402	4.454	18.381	0.135	.	0.0007	0.00159744	0.0034	0.0003	0.0007	0.0002	0.0060	0.0024	0.0088	0.0114	0.002846	440	154602	rs41282238	0.0019	0.0019	0.0016	0.0023	0.0112	0.0019	0.0018	0.0106	0.0104	0.0002	0.0004	0.0061	7.557e-05	0.0058	0.0066	0.0010	0.0024	0.0112	0.0018	0.0018	0.0014	0.0023	0.0116	0.0016	0.0016	0.0092	0.0083	0.0002	0.0219	0.0002	0.0046	0.0002	0.0063	0.0068	0.0015	0.0029	0.0116	0.005	0.68238	D	0.016	0.60972	D	1.0	0.90584	D	0.927	0.66185	D	0.004502	0.33669	N	0.360028	0.994384	0.81001	D	0.805	0.20218	L	2.4	0.25509	T	-1.48	0.37566	N	0.312	0.35194	-0.9898	0.32652	T	0.108	0.39075	T	10	0.00437513	0.00089	T	.	.	.	0.135	0.36572	.	.	0.532311620844	0.52880	0.24715788570884184	0.24629	2.30488031714	0.96506	0.489432364702	0.37359	T	0.014439	0.15105	T	-0.460292	0.00979	T	-0.423566	0.30667	T	0.0278995960609738	0.01674	T	0.79912	0.73561	T	0.15304875	0.34711	0.31860933	0.57828	0.16137412	0.36141	0.24936178	0.50505	-6.309	0.49314	T	0.5477963200598464	0.61671	0.112	0.34361	B	.;.;.;.;.;.	.;.;.;.;.;.	3.974559	0.58384	24.0	0.99852887865356199	0.93191	0.88082	0.47856	D	AEFDGBHCI	0.672686	0.63900	D	0.492685321266477	0.66661	4.979143	0.506299029287174	0.68412	5.216603	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.87	4.87	0.62877	4.171000	0.58029	5.662000	0.49222	0.618000	0.50648	1.000000	0.71638	0.996000	0.32793	0.989000	0.64315	0.0:0.0:1.0:0.0	18.381	0.90395	693	0.58582	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3698.11	33	chr10	27240384	.	G	A	3698.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.62;DP=1006;ExcessHet=0.1072;FS=5.119;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=1.97;SOR=0.962	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	19	0	2	0
chr10	27398709	27398709	C	T	exonic	PTCHD3	.	nonsynonymous SNV	PTCHD3:NM_001034842:exon4:c.G1889A:p.R630Q,	.	.	431	1076	15	0	0	15	0.00692201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.149	B	0.19	B	0.139	N	0.994	N	1.155	L	-1.95	D	-0.750	T	0.392	T	0.099	2.610	14.69	2.27	0.391	2.045	5.686	0.189	0.0266652623105	0.0022	0.000599042	0.0030	0.0011	0.0005	0.0001	0.0038	0.0045	0.0033	0.0010	0.002943	455	154602	rs142594066	0.0032	0.0032	0.0032	0.0032	0.0047	0.0031	0.0031	0.0036	0.0035	0.0006	0.0011	0.0029	0	0.0034	0.0047	0.0037	0.0024	0.0014	0.0029	0.0029	0.0031	0.0027	0.0042	0.0027	0.0026	0.0038	0.0036	0.0007	0.0625	0.0011	0.0029	0.0002	0.0035	0	0.0042	0.0014	0.0010	0.219	0.19023	T	0.016	0.60972	D	0.149	0.27956	B	0.19	0.36341	B	0.138750	0.18367	N	0.525534	0.994326	0.23542	N	1.985	0.53793	M	-1.95	0.85003	D	-1.85	0.43334	N	0.086	0.06322	-0.7500	0.57935	T	0.392	0.74604	T	10	0.006129205	0.00138	T	0.026665	0.49557	D	0.189	0.46613	.	.	0.101711395817	0.09552	.	.	0.231880388062	0.25740	0.257836341858	0.04637	T	0.154528	0.49586	T	-0.422881	0.01640	T	-0.379262	0.35809	T	0.0235528033775159	0.01090	T	.	.	.	0.2875486	0.51764	0.27809125	0.53767	0.2875486	0.51764	0.27809125	0.53766	-6.5	0.50286	T	.	.	0.111	0.21728	B	.	.	3.525187	0.49431	22.8	0.99896517186797917	0.96971	0.47811	0.28066	N	AEFI	0.053810	0.09728	N	-0.405525720027494	0.25274	1.37082	-0.324640407592278	0.27304	1.514204	3.20851712304101E-4	0.06498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.19	2.27	0.27501	2.775000	0.47387	-3.295000	0.02898	0.469000	0.21855	1.000000	0.71638	0.000000	0.08366	0.997000	0.79791	0.0:0.6582:0.1627:0.1791	5.686	0.17077	449	0.79428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1836.98	98	chr10	27398709	.	C	T	1836.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.013;DP=1958;ExcessHet=0.0000;FS=2.048;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=1.01;SOR=0.527	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	20	0	1	0
chr10	27399160	27399160	A	G	exonic	PTCHD3	.	nonsynonymous SNV	PTCHD3:NM_001034842:exon4:c.T1438C:p.S480P,	.	.	426	1091	5	0	0	5	0.00228624	.	.	2435505	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.995	D	0.926	D	0.010	N	0.661	N	2.095	M	-2.06	D	0.301	D	0.658	D	0.427	1.581	11.24	-0.52	0.049	2.105	12.796	0.509	0.0950300981948	0.0002	.	0.0003	9.677e-05	0.0009	0	0	0.0003	0	6.064e-05	0.0002975	46	154602	rs199572862	0.0002	0.0002	0.0002	0.0002	0.0026	0.0002	0.0002	0.0016	0.0013	0.0004	0.0006	0	0	0	0.0026	0.0002	0.0002	9.276e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0	0.0001	0	0	0	0	0.0002	0.0010	0	0.052	0.39097	T	0.046	0.49120	D	0.995	0.67487	D	0.926	0.66095	D	0.009896	0.30155	N	0.327917	0.660899	0.30450	N	2.3	0.65703	M	-2.06	0.85875	D	-2.78	0.58896	D	0.383	0.49602	0.301	0.87581	D	0.658	0.88129	D	10	0.28731513	0.46314	T	0.09503	0.76356	D	0.509	0.78910	.	.	0.32980341726	0.32591	.	.	0.456698694381	0.45327	0.351528823376	0.18147	T	0.486186	0.81278	T	-0.218302	0.18224	T	-0.180267	0.56499	T	0.158306524157524	0.17745	T	.	.	.	0.87295717	0.89098	0.80797505	0.88772	0.87295717	0.89099	0.80797505	0.88773	-7.786	0.59602	D	.	.	0.463	0.62854	A	.;.	.;.	2.713334	0.35474	19.91	0.98755915642568248	0.45739	0.73810	0.36103	D	AEFI	0.309251	0.41560	N	-0.0656492539124449	0.38906	2.285984	-0.290765345741203	0.28401	1.583345	2.23117212727007E-4	0.06048	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.84	-0.52	0.11340	2.136000	0.41744	1.650000	0.27840	0.587000	0.30956	1.000000	0.71638	0.921000	0.28324	0.419000	0.27206	0.2746:0.7254:0.0:0.0	12.796	0.56942	449	0.79428	Sterol-sensing domain;Sterol-sensing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1234.98	92	chr10	27399160	.	A	G	1234.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.299;DP=1823;ExcessHet=0.0000;FS=0.728;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.93;ReadPosRankSum=0.460;SOR=0.565	GT:AD:DP:GQ:PL	0/0:80,0:80:99:0,120,1800	20	0	1	0
chr10	27734734	27734734	T	A	exonic	MKX	.	nonsynonymous SNV	MKX:NM_001242702:exon5:c.A560T:p.H187L	.	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.717	P	0.272	B	0.000	D	1.000	D	1.905	M	-0.2	T	-0.747	T	0.222	T	0.525	3.473	17.78	5.56	2.122	5.727	15.765	0.222	0.0462206510342	.	0.00139776	0.0005	0	0	0	0	5.998e-05	0.0044	0.0030	0.000414	64	154602	rs558586786	0.0002	0.0002	0.0001	0.0003	0.0025	0.0002	0.0002	0.0022	0.0021	0	0	0	0	1.872e-05	0.0007	7.284e-05	0.0002	0.0025	0.0001	0.0001	6.425e-05	0.0002	0.0031	7.087e-05	5.744e-05	0.0019	0.0016	0	0	6.539e-05	0	0	0	0	1.47e-05	0	0.0031	0.02	0.50676	D	0.112	0.37037	T	0.717	0.42239	P	0.272	0.39956	B	0.000001	0.62929	D	0.098371	0.999987	0.54805	D	1.905	0.50856	L	-0.2	0.66113	T	-3.15	0.64132	D	0.626	0.64563	-0.7465	0.58118	T	0.222	0.58562	T	10	0.0069509745	0.00158	T	0.046221	0.62357	D	0.222	0.51872	.	.	0.147330786459	0.14319	0.3252863486936645	0.32441	0.627197894009	0.56825	0.461684018373	0.33542	T	0.364715	0.73025	T	-0.319214	0.06962	T	-0.234356	0.51349	T	0.0913249451064931	0.11374	T	0.794321	0.43637	T	0.3346315	0.55848	0.2288022	0.47933	0.3346315	0.55848	0.2288022	0.47932	-2.695	0.07261	T	.	.	0.101	0.19276	B	.;.;.	.;.;.	2.671331	0.34828	19.73	0.97496647695040994	0.34272	0.99044	0.90407	D	AEFBI	0.760804	0.69871	D	0.279751097130978	0.55123	3.676635	0.353318043373871	0.58707	4.042978	0.999501997450465	0.40062	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.56	5.56	0.83678	4.794000	0.62175	4.153000	0.42161	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	15.765	0.77890	804	0.43891	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1702.98	39	chr10	27734734	.	T	A	1702.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.434;DP=835;ExcessHet=0.0000;FS=0.680;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=0.984;SOR=0.579	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	20	0	1	0
chr10	28058525	28058525	G	C	exonic	MPP7	.	nonsynonymous SNV	MPP7:NM_001318170:exon15:c.C1377G:p.N459K	.	.	.	.	.	.	.	.	.	.	.	3356066	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.484	P	0.381	B	0.000	D	1.000	D	1.53	L	2.22	T	-1.119	T	0.048	T	0.395	2.088	12.94	4.16	0.880	2.012	8.911	0.137	0.00986801543881	7.7e-05	0.000199681	0.0002	0.0002	8.637e-05	0	0	0.0001	0	0.0007	0.0001617	25	154602	rs199919302	0.0002	0.0002	0.0001	0.0002	0.0007	0.0001	0.0001	0.0005	0.0005	3.031e-05	0.0002	0	0	0	0.0005	0.0001	0.0001	0.0007	0.0003	0.0003	0.0002	0.0004	0.0018	0.0002	0.0002	0.0012	0.0011	7.222e-05	0	0.0018	0	0	0	0	0.0002	0	0.0008	0.09	0.37966	T	0.035	0.52389	D	0.484	0.36838	P	0.381	0.43873	B	0.000000	0.84330	D	0.080681	0.999999	0.58761	D	1.325	0.33218	L	2.22	0.18248	T	-2.41	0.55501	N	0.403	0.44379	-1.1194	0.02369	T	0.048	0.20632	T	10	0.048288137	0.04259	T	0.009868	0.25720	T	0.137	0.36984	0.786	0.90919	0.396044805602	0.39223	0.552267919992383	0.55152	0.218260725419	0.24360	0.825687408447	0.85901	D	0.215904	0.57792	T	-0.399314	0.02339	T	-0.440278	0.28777	T	0.0635186786697871	0.07711	T	0.949805	0.80758	D	0.2602434	0.49079	0.24190176	0.49599	0.2602434	0.49079	0.24190176	0.49598	-10.609	0.77471	D	.	.	0.246	0.50287	B	.;.;.;.	.;.;.;.	3.241433	0.44252	21.9	0.98411264902325113	0.41180	0.93756	0.59101	D	AEFBI	0.534041	0.55324	D	0.131090173651991	0.47916	3.010848	0.210452523675437	0.50426	3.234818	0.00290192340425812	0.09788	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	6.01	4.16	0.48138	2.187000	0.42234	6.658000	0.56238	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2775:0.0:0.7225:0.0	8.911	0.34711	715	0.56137	Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1495.98	37	chr10	28058525	.	G	C	1495.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.034e+00;DP=804;ExcessHet=0.0000;FS=2.349;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.57;ReadPosRankSum=-3.170e-01;SOR=0.606	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1228	20	0	1	0
chr10	28238588	28238588	G	A	exonic	MPP7	.	nonsynonymous SNV	MPP7:NM_001318170:exon2:c.C17T:p.T6M	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.677	P	0.459	P	0.000	N	1.000	D	1.1	L	2.7	T	-1.070	T	0.083	T	0.277	2.632	14.76	5.16	1.571	6.263	13.615	0.095	0.0219607307967	.	.	1.648e-05	0	8.639e-05	0	0	1.499e-05	0	0	1.94e-05	3	154602	rs758713609	6.088e-05	6.088e-05	5.99e-05	6.188e-05	0.0003	5.028e-05	4.672e-05	6.092e-05	4.908e-05	2.987e-05	0	0	2.519e-05	0	0.0003	6.565e-05	9.935e-05	6.956e-05	3.943e-05	3.94e-05	6.424e-05	1.346e-05	8.82e-05	1.716e-05	1.13e-05	3.762e-05	2.575e-05	0	0	0	0	0	0	0	8.82e-05	0	0	0.001	0.91255	D	0.053	0.92824	T	0.677	0.41330	P	0.459	0.46380	P	0.000016	0.62929	N	0.115089	0.771847	0.81001	D	1.78	0.46185	L	2.7	0.33189	T	-1.25	0.31576	N	0.493	0.52651	-1.0700	0.09413	T	0.083	0.32614	T	10	0.22991896	0.39931	T	0.021961	0.44796	T	0.095	0.27398	0.189	0.09907	0.571034400148	0.56769	0.3344909218999742	0.33362	0.305461879015	0.32852	0.612597227097	0.54683	T	0.033079	0.22763	T	-0.166897	0.25704	T	-0.380658	0.35644	T	0.753398060798645	0.43475	D	0.913709	0.69301	D	0.13428687	0.31206	0.16533205	0.38253	0.13428687	0.31206	0.16533205	0.38252	-5.625	0.43020	T	.	.	0.191	0.41000	B	.;.;.;.	.;.;.;.	4.508594	0.70581	25.5	0.99748953815598418	0.84077	0.97220	0.73400	D	AEFI	0.524237	0.54751	D	0.0931330413843866	0.46141	2.859268	0.0963674247496838	0.44365	2.719723	0.999995051963763	0.74766	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.542086	0.14980	0	.	.	6.07	5.16	0.70563	6.790000	0.74902	8.564000	0.77578	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.499000	0.28994	0.0713:0.0:0.9287:0.0	13.615	0.61572	636	0.64483	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2398.98	38	chr10	28238588	.	G	A	2398.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.565;DP=914;ExcessHet=0.0000;FS=1.104;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=1.61;SOR=0.611	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1228	20	0	1	0
chr10	28616202	28616202	A	G	exonic	WAC	.	nonsynonymous SNV	WAC:NM_100486:exon11:c.A1277G:p.N426S	Desanto-Shinawi syndrome, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.99	D	0.979	D	0.000	D	1.000	D	0.895	L	0.87	T	-0.991	T	0.153	T	0.097	2.579	14.58	5.51	2.225	8.910	15.925	0.161	0.0175587853424	.	.	8.325e-06	9.63e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs200723559	7.548e-06	7.524e-06	6.825e-06	8.278e-06	5.987e-05	4.05e-06	2.96e-06	9.91e-06	3.71e-06	5.987e-05	0	0	0	0	0	7.211e-06	0	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.721	0.12704	T	0.958	0.63424	D	0.763	0.74454	P	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.955	0.52871	M	0.87	0.46412	T	-0.86	0.26422	N	0.606	0.65587	-0.9911	0.32321	T	0.153	0.48274	T	10	0.39020246	0.54836	T	0.017559	0.39307	T	0.161	0.41658	0.158	0.06178	0.309278343525	0.30543	0.5129718324782301	0.51219	0.471905473178	0.46439	0.53257060051	0.43397	T	0.022149	0.19707	T	-0.29562	0.09078	T	-0.480886	0.24352	T	0.412787113171348	0.29422	T	0.978002	0.92190	D	0.39335003	0.60269	0.38982183	0.63792	0.39335003	0.60269	0.38982183	0.63792	-1.399	0.01778	T	.	.	0.073	0.08657	B	.;.;.;.	.;.;.;.	4.378855	0.67476	25.1	0.99694186398609241	0.80180	0.99378	0.95249	D	AEFBI	0.898612	0.84210	D	0.457896562310662	0.64654	4.724686	0.535174124551449	0.70373	5.495638	0.999957284795114	0.48110	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	8.867000	0.91934	11.305000	0.92359	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.925	0.79395	846	0.36215	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1405.98	35	chr10	28616202	.	A	G	1405.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=868;ExcessHet=0.0000;FS=1.441;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=-1.589e+00;SOR=0.561	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1091	20	0	1	0
chr10	28677898	28677898	A	G	exonic	BAMBI	.	startloss	BAMBI:NM_012342:exon1:c.A1G:p.M1?,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.924	P	0.878	P	0.000	D	1.000	D	.	.	.	.	-0.181	T	0.388	T	0.986	5.088	31	4.25	1.698	7.722	13.300	0.528	0.926852115674	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1032489173	3.968e-05	3.967e-05	3.628e-05	4.317e-05	0.0001	3.108e-05	2.785e-05	3.947e-05	2.693e-05	3.507e-05	0.0001	0	3.025e-05	0	0	4.023e-05	5.286e-05	2.612e-05	4.607e-05	4.598e-05	3.859e-05	5.391e-05	8.833e-05	2.112e-05	1.529e-05	3.766e-05	2.578e-05	2.415e-05	0	0	0	0	0	0	8.833e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.713	0.42139	P	0.761	0.56482	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	-0.74	0.20791	N	0.868	0.86511	-0.1815	0.78143	T	0.388	0.74268	T	8	0.9573037	0.95103	D	0.926852	0.99466	D	0.528	0.80067	0.741	0.87317	0.619340834653	0.61626	0.7921430216673732	0.79166	.	.	.	.	.	0.421309	0.77274	T	0.267078	0.80177	D	0.394172	0.91921	D	0.973463892936707	0.70107	D	0.9	0.65058	D	0.8897706	0.90488	0.9362552	0.97519	0.8897706	0.90489	0.9362552	0.97520	-10.076	0.74366	D	.	.	.	.	.	.	.	4.260551	0.64748	24.7	0.99470496887582738	0.66312	0.95317	0.64251	D	AEFDBCI	0.227216	0.35106	N	0.501787938484905	0.67196	5.049457	0.49628457763124	0.67743	5.125093	0.999999999617634	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.52208	0.10781	0	0.665054	0.64577	0	.	.	4.25	4.25	0.49658	3.913000	0.56106	10.650000	0.83525	0.657000	0.54293	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.300	0.59752	922	0.19044	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	331.98	30	chr10	28677898	.	A	G	331.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.49;DP=575;ExcessHet=0.0000;FS=1.569;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=1.45;SOR=0.412	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,781	20	0	1	0
chr10	29490860	29490860	C	T	exonic	SVIL	.	nonsynonymous SNV	SVIL:NM_003174:exon20:c.G2901A:p.M967I	.	.	436	991	95	0	0	95	0.045739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.04	B	0.014	B	0.000	D	1.000	D	1.485	L	2.86	T	-0.383	T	0.441	T	0.498	0.749	7.970	2.98	0.848	5.444	11.369	0.196	.	.	.	0.0030	0.0008	0.0003	0.0003	0.0025	0.0015	0.0045	0.0140	3.84e-05	1	26028	rs757300194	2.794e-05	0.0018	1.94e-05	3.66e-05	0.0001	2.106e-05	1.854e-05	6.565e-05	4.989e-05	3.027e-05	4.616e-05	0.0001	5.135e-05	0	0	1.92e-05	1.694e-05	0.0001	2.02e-05	0.0009	2.624e-05	1.383e-05	3.009e-05	5.37e-06	2.49e-06	4.99e-06	1.87e-06	0	0	0	0	0	9.783e-05	0	3.009e-05	0	0	0.251	0.26300	T	0.338	0.19188	T	0.001	0.21238	B	0.002	0.16862	B	0.000000	0.84330	D	0.080390	0.999644	0.48019	D	1.275	0.32135	L	2.83	0.10771	T	-2.01	0.47683	N	0.833	0.82862	-0.3829	0.72561	T	0.441	0.77934	T	10	0.01062569	0.00236	T	.	.	.	0.196	0.47777	0.315	0.29096	0.102598925029	0.09809	0.5538617382080628	0.55312	0.32964423376	0.35070	0.654423296452	0.60614	T	0.043114	0.26399	T	-0.123078	0.32621	T	-0.41457	0.31698	T	0.0747122019529343	0.09297	T	0.89841	0.64469	D	0.29034367	0.52024	0.28399682	0.54395	0.29034367	0.52024	0.28399682	0.54394	-10.193	0.75058	D	0.16825139534427275	0.21027	0.460	0.69288	A	.;.;.	.;.;.	3.963416	0.58142	23.9	0.74794420715289511	0.10829	0.96717	0.70563	D	AEFDGBI	0.421191	0.48771	N	-0.482251454692371	0.22663	1.211673	-0.409489271843162	0.24719	1.355184	0.986166000563011	0.31015	0.706298	0.61202	0	0.601575	0.49859	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.88	2.98	0.33575	5.584000	0.67185	6.001000	0.52488	0.449000	0.21268	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.9105:0.0:0.0895	11.369	0.48927	975	0.05339	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.09524	228.28	102	chr10	29490860	.	C	T	228.28	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.15;DP=1424;ExcessHet=0.6776;FS=23.683;InbreedingCoeff=-0.0944;MLEAC=3;MLEAF=0.071;MQ=58.34;MQRankSum=-1.102e+01;QD=0.45;ReadPosRankSum=-4.118e+00;SOR=2.883	GT:AD:DP:GQ:PL	0/1:135,16:151:41:41,0,3602	17	0	4	0
chr10	29533429	29533429	T	C	exonic	SVIL	.	nonsynonymous SNV	SVIL:NM_021738:exon8:c.A938G:p.E313G,	.	.	425	1032	62	3	0	68	0.0318949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.922	D	0.000	D	1.000	D	2.215	M	0.83	T	-0.583	T	0.277	T	0.463	4.549	24.6	5.85	2.233	6.714	16.230	0.161	.	0.0021	0.00379393	0.0052	0.0006	0.0009	0.0002	0.0006	0.0030	0.0033	0.0248	0.0045795	708	154602	rs138539716	0.0035	0.0035	0.0027	0.0042	0.0249	0.0034	0.0034	0.0240	0.0237	0.0004	0.0008	0.0020	7.561e-05	0.0008	0.0168	0.0022	0.0037	0.0249	0.0023	0.0023	0.0020	0.0026	0.0261	0.0021	0.0020	0.0224	0.0210	0.0002	0	0.0018	0.0014	0	0.0002	0.0102	0.0026	0.0019	0.0261	0.0	0.91255	D	0.019	0.59159	D	0.999	0.77913	D	0.922	0.65739	D	0.000035	0.55875	D	0.120676	0.999815	0.81001	D	2.965	0.85198	M	0.83	0.47815	T	-2.76	0.58569	D	0.672	0.67995	-0.5825	0.65518	T	0.277	0.64845	T	9	0.006445855	0.00146	T	.	.	.	0.161	0.41658	.	.	0.29966067498	0.29572	0.32499134559339155	0.32412	0.941272911634	0.72213	0.544726490974	0.45114	T	0.114264	0.43194	T	-0.326568	0.06375	T	-0.222944	0.52452	T	0.0506692524194072	0.05618	T	0.909109	0.67839	D	0.4057002	0.61126	0.45622653	0.68392	0.38305208	0.59537	0.45176348	0.68105	-4.169	0.26519	T	.	.	0.523	0.65599	A	.;.	.;.	4.217554	0.63767	24.6	0.99928286144631806	0.99222	0.98525	0.83712	D	AEFBI	0.791987	0.72041	D	0.720763892831633	0.80992	7.419273	0.719964135676973	0.83897	8.143189	0.999999999870866	0.74766	0.740787	0.97801	0	0.573888	0.26702	0	0.767554	0.98243	0	0.635551	0.53088	0	.	.	5.85	5.85	0.93663	7.074000	0.76478	6.216000	0.55070	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	16.230	0.82154	968	0.07033	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	2167.68	42	chr10	29533429	.	T	C	2167.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.505;DP=907;ExcessHet=0.3300;FS=1.958;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=0.091;SOR=0.874	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1362	18	0	3	0
chr10	30029846	30029846	G	A	exonic	JCAD	.	nonsynonymous SNV	JCAD:NM_020848:exon3:c.C302T:p.S101L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.0	B	0.931	N	1.000	N	-1.085	N	3.2	T	-0.932	T	0.007	T	0.113	-0.771	0.756	-1.21	-0.485	2.092	1.907	0.060	0.00382465534252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.355	0.17217	T	0.0	0.02946	B	0.0	0.01387	B	0.930644	0.08423	N	0.965661	1	0.08975	N	-1.01	0.01154	N	3.2	0.07236	T	2.74	0.00182	N	0.091	0.06990	-0.9324	0.43785	T	0.007	0.02282	T	10	0.0328483	0.01446	T	0.003825	0.08930	T	0.060	0.17295	0.297	0.26202	0.0611884634855	0.05136	0.07292770788044417	0.07229	0.137584547776	0.15513	0.268727183342	0.05975	T	0.002115	0.01518	T	-0.327261	0.06322	T	-0.707864	0.05406	T	0.0892663174117787	0.11129	T	0.664534	0.27348	T	0.01780344	0.00304	0.018287892	0.00051	0.01780344	0.00304	0.018287892	0.00051	-4.499	0.30876	T	.	.	0.063	0.01449	B	.	.	-0.211827	0.03032	0.464	0.61258932408167888	0.06664	0.00542	0.02495	N	AEFDBI	0.060821	0.11585	N	-1.48593369973156	0.01948	0.08555971	-1.42747118205719	0.02980	0.138163	0.998582141664581	0.37247	0.730579	0.87903	0	0.59043	0.45803	0	0.547309	0.15389	0	0.648885	0.59868	0	.	.	5.39	-1.21	0.09033	1.716000	0.37601	1.436000	0.26487	-0.633000	0.04490	0.006000	0.17386	0.151000	0.23179	0.000000	0.00833	0.4802:0.1245:0.2751:0.1202	1.907	0.03080	975	0.05339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1484.98	34	chr10	30029846	.	G	A	1484.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.15;DP=900;ExcessHet=0.0000;FS=6.256;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.56;ReadPosRankSum=-5.600e-01;SOR=1.463	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr10	30313715	30313715	T	G	exonic	MTPAP	.	nonsynonymous SNV	MTPAP:NM_018109:exon9:c.A1643C:p.K548T,	.	.	1	1518	3	0	0	3	0.000987167	.	.	441369	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.19	T	0.914	P	0.34	B	0.062	N	1.000	N	1.95	M	2.19	T	-0.892	T	0.077	T	0.15	-0.650	1.139	-6.5	-1.799	0.123	11.034	0.102	0.0141472237421	7.7e-05	0.000199681	0.0002	0	0	0.0001	0	0.0001	0.0011	0.0007	0.0001358	21	154602	rs372986653	8.209e-05	8.209e-05	5.173e-05	0.0001	0.0014	7.002e-05	6.552e-05	0.0007	0.0006	0	0	0	0	5.616e-05	0.0014	3.237e-05	1.656e-05	0.0008	2.625e-05	3.28e-05	1.284e-05	4.026e-05	0.0004	8.13e-06	5.14e-06	7.29e-05	3.029e-05	0	0	0	0	0	0.0002	0	0	0	0.0004	0.09	0.31987	T	0.232	0.24987	T	0.112	0.26290	B	0.068	0.27651	B	0.062160	0.02152	N	1.923830	1	0.08975	N	1.935	0.51832	L	1.49	0.31470	T	-0.64	0.18670	N	0.129	0.12341	-0.8916	0.48793	T	0.077	0.30706	T	10	0.025054514	0.00712	T	0.014147	0.34071	T	0.102	0.29158	.	.	0.306606720791	0.30265	0.18838596122357623	0.18756	0.50423346678	0.48713	0.247181519866	0.03477	T	0.017052	0.13979	T	-0.522469	0.00425	T	-0.596072	0.13144	T	0.0578293998697371	0.06823	T	0.223478	0.02897	T	0.02416422	0.01221	0.025712123	0.00627	0.02416422	0.01220	0.025712123	0.00626	-3.786	0.20595	T	.	.	0.082	0.08657	B	.	.	-0.117288	0.03540	0.677	0.43090198352826697	0.03220	0.32021	0.24483	N	AEFDBHCI	0.160697	0.28667	N	-1.27039978080796	0.04037	0.181449	-1.46533706995465	0.02634	0.1215013	0.110542801648736	0.16636	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.86	-6.5	0.01714	0.032000	0.13620	0.251000	0.16428	-0.118000	0.14412	0.008000	0.17931	0.001000	0.17328	0.001000	0.02609	0.0983:0.5926:0.0:0.3091	11.034	0.47006	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1918.98	33	chr10	30313715	.	T	G	1918.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.335e+00;DP=848;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-5.250e-01;SOR=0.727	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1261	20	0	1	0
chr10	30313751	30313751	G	C	exonic	MTPAP	.	nonsynonymous SNV	MTPAP:NM_018109:exon9:c.C1607G:p.P536R,	.	.	0	1521	1	0	0	1	0.000328623	.	.	441370	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.17	T	0.004	B	0.003	B	0.000	N	1.000	N	0.69	N	2.29	T	-1.049	T	0.048	T	0.142	-0.406	2.102	-0.675	-0.135	0.436	2.898	0.016	0.00506863796388	0.0008	0.000998403	0.0005	0	0.0004	0.0001	0	0.0005	0	0.0015	0.0005757	89	154602	rs147174746	0.0007	0.0007	0.0007	0.0008	0.0012	0.0007	0.0007	0.0010	0.0009	0.0002	0.0005	0	0	1.872e-05	0.0005	0.0008	0.0007	0.0012	0.0004	0.0004	0.0004	0.0004	0.0021	0.0003	0.0003	0.0011	0.0009	9.633e-05	0	0.0002	0	0	0	0	0.0007	0	0.0021	0.568	0.06223	T	0.627	0.07267	T	0.0	0.02946	B	0.001	0.04355	B	0.000467	0.00613	N	3.300120	1	0.08975	N	0.345	0.11182	N	1.57	0.29342	T	-0.35	0.12847	N	0.042	0.01498	-1.0489	0.14705	T	0.048	0.20672	T	10	0.00920409	0.00208	T	0.005069	0.12846	T	0.016	0.02506	.	.	0.147330786459	0.14319	0.1641430465654035	0.16334	0.376681390486	0.39101	0.219526976347	0.01283	T	0.012506	0.10980	T	-0.587057	0.00175	T	-0.656577	0.08499	T	0.00102909735869616	0.00010	T	0.20068	0.02272	T	0.019569851	0.00490	0.03080993	0.01585	0.022019092	0.00837	0.025235422	0.00561	-3.741	0.19925	T	.	.	0.083	0.09385	B	.	.	0.238261	0.06189	2.637	0.23739125398025251	0.01017	0.35269	0.25262	N	AEFDBHCI	0.114884	0.22611	N	-1.26087571277802	0.04158	0.1871213	-1.26812393821415	0.04868	0.230662	0.00108436047993539	0.08206	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	-0.675	0.10793	0.477000	0.21906	0.592000	0.19832	-0.654000	0.04376	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4646:0.1068:0.308:0.1206	2.898	0.05348	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1173.98	33	chr10	30313751	.	G	C	1173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.040e-01;DP=812;ExcessHet=0.0000;FS=0.714;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.39;ReadPosRankSum=-1.229e+00;SOR=0.566	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1261	20	0	1	0
chr10	30611996	30611996	-	C	exonic	LYZL2	.	frameshift insertion	LYZL2:NM_183058:exon5:c.405dupG:p.R136Efs*11,	.	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.295e-05	0	0	0	0	2.997e-05	0	0.0001	2.59e-05	4	154602	rs775323987	8.209e-06	8.209e-06	1.361e-06	1.513e-05	0.0002	4.38e-06	3.46e-06	2.194e-05	1.43e-05	0	2.236e-05	0	0	0	0.0002	3.597e-06	1.656e-05	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5345.05	34	chr10	30611996	.	T	TC	5345.05	.	AC=2;AF=0.048;AN=42;DP=855;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.39;SOR=0.978	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1478	20	1	0	0
chr10	30849149	30849149	G	A	exonic	ZNF438	.	nonsynonymous SNV	ZNF438:NM_001143767:exon5:c.C1256T:p.P419L	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.01	B	0.006	B	0.562	N	1.000	N	1.53	L	3.88	T	-0.938	T	0.012	T	0.069	0.789	8.156	2.87	0.782	0.246	9.173	0.052	0.00324306584018	.	.	6.644e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs564286076	3.147e-05	3.147e-05	2.042e-05	4.264e-05	0.0009	2.413e-05	2.158e-05	0.0003	0.0002	0	0	0	0	0	0.0009	3.327e-05	4.968e-05	1.159e-05	6.577e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.439	0.10378	T	0.459	0.12704	T	0.01	0.15535	B	0.006	0.12133	B	0.562086	0.11326	N	0.837369	1	0.08975	N	0.9	0.23182	L	3.88	0.03570	T	-2.48	0.54059	N	0.076	0.06190	-0.9375	0.43010	T	0.012	0.04558	T	10	0.07770336	0.12295	T	0.003243	0.07147	T	0.052	0.14661	0.466	0.53729	0.405560941015	0.40167	0.2904508644945908	0.28958	0.0709151228016	0.07949	0.196160048246	0.00353	T	0.043365	0.26478	T	-0.475318	0.00788	T	-0.715987	0.04992	T	0.036011391533327	0.02983	T	0.760024	0.38453	T	0.057176296	0.11346	0.06770887	0.14045	0.057176296	0.11346	0.06770887	0.14045	-2.254	0.04627	T	.	.	0.076	0.09481	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.415688	0.18319	13.67	0.67827193952532017	0.08472	0.09840	0.15504	N	AEFBI	0.064469	0.12520	N	-0.652414408703921	0.17391	0.8944529	-0.608219382274762	0.19282	1.033818	0.00716780701241352	0.11400	0.651	0.46895	0	0.633656	0.55848	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.73	2.87	0.32523	0.558000	0.23174	1.756000	0.28514	0.676000	0.76740	0.010000	0.18352	0.179000	0.23406	0.991000	0.66497	0.3114:0.0:0.6886:0.0	9.173	0.36254	964	0.07719	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3103.98	33	chr10	30849149	.	G	A	3103.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=899;ExcessHet=0.0000;FS=5.585;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.64;ReadPosRankSum=0.519;SOR=0.395	GT:AD:DP:GQ:PL	0/1:70,106:176:99:3118,0,1863	20	0	1	0
chr10	31524036	31524036	G	A	exonic	ZEB1	.	nonsynonymous SNV	ZEB1:NM_001323674:exon6:c.G2483A:p.G828E	Corneal dystrophy, Fuchs endothelial, 6;Corneal dystrophy, posterior polymorphous, 3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.140	N	1.000	D	2.08	M	3.19	T	-1.173	T	0.079	T	0.955	5.226	33	5.72	2.715	9.869	19.869	0.510	0.00252136342492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.139856	0.18329	N	0.529456	1	0.81001	D	1.995	0.54099	M	3.19	0.07353	T	-6.71	0.92518	D	0.855	0.85660	-1.1731	0.00482	T	0.079	0.31284	T	10	0.77007186	0.77011	D	0.002521	0.05037	T	0.510	0.78971	0.384	0.40298	0.495690748178	0.49203	0.4383833791546144	0.43755	0.654802155961	0.58547	0.918305635452	0.98192	D	0.707743	0.91639	D	0.23338	0.77038	D	0.0974581	0.76739	D	0.982451021671295	0.74501	D	0.965303	0.87188	D	0.78569436	0.83005	0.8155677	0.89255	0.78569436	0.83007	0.8155677	0.89256	-14.54	0.95020	D	0.8379555726232712	0.90716	0.984	0.93824	P	.;.;.;.;.	.;.;.;.;.	5.562324	0.92146	32	0.99804362439802696	0.88906	0.99604	0.97902	D	AEFBI	0.904626	0.85515	D	0.913470321719469	0.92404	11.40374	0.909363823547343	0.95968	14.15846	0.999999999998436	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.72	5.72	0.89380	10.003000	0.99689	11.932000	0.99936	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.869	0.96838	796	0.45353	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1262.98	33	chr10	31524036	.	G	A	1262.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.927;DP=807;ExcessHet=0.0000;FS=1.623;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=1.44;SOR=0.931	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1236	20	0	1	0
chr10	32664064	32664064	T	A	exonic	CCDC7	.	nonsynonymous SNV	CCDC7:NM_001321115:exon22:c.T2025A:p.D675E,	.	.	1295	225	2	0	0	2	0.00442478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00379393	.	.	.	.	.	.	.	.	0.0012225	189	154602	rs78766756	0.0103	0.0041	0.0103	0.0103	0.0115	0.0100	0.0098	0.0111	0.0109	0.0020	0.0089	0.0093	4.421e-05	0.0189	0.0063	0.0115	0.0084	0	0.0087	0.0087	0.0079	0.0095	0.0112	0.0083	0.0082	0.0106	0.0103	0.0018	0.0439	0.0075	0.0043	0	0.0278	0.0068	0.0112	0.0095	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004268348	0.00085	T	.	.	.	.	.	.	.	.	.	0.001276299474059406	0.00117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273273	0.04638	T	0.03778545	0.04910	0.05448561	0.09379	0.03778545	0.04909	0.05448561	0.09379	-0.899	0.00894	T	.	.	0.167	0.36752	B	.	.	-1.480309	0.00307	0.005	0.73325049313239288	0.10287	0.00075	0.00520	N	AEFI	.	.	.	.	.	.	.	.	.	2.07638469947806E-4	0.05948	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0448725	0.03863	2.23	-4.47	0.03278	-3.556000	0.00482	-20.000000	0.00162	-0.290000	0.06302	0.000000	0.06391	0.000000	0.08366	0.085000	0.17524	0.3572:0.1355:0.0:0.5073	4.474	0.11145	706	0.57215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	436.98	33	chr10	32664064	.	T	A	436.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=711;ExcessHet=0.0000;FS=1.098;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.10;ReadPosRankSum=-4.200e-02;SOR=0.892	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1000	20	0	1	0
chr10	32728968	32728971	AAAT	-	exonic	CCDC7	.	frameshift deletion	CCDC7:NM_001321115:exon28:c.2750_2753del:p.N919Lfs*11,	.	.	505	1008	9	0	0	9	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0077	0.00798722	0.0078	0.0019	0.0130	0	0.0032	0.0110	0.0167	0.0008	0.0020363	53	26028	rs202220321	0.0093	0.0094	0.0093	0.0092	0.0322	0.0091	0.0091	0.0283	0.0268	0.0019	0.0125	0.0090	5.082e-05	0.0034	0.0322	0.0105	0.0091	0.0008	0.0087	0.0088	0.0089	0.0086	0.0187	0.0084	0.0082	0.0169	0.0162	0.0023	0.0110	0.0187	0.0098	0	0.0033	0.0272	0.0121	0.0152	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	668.94	33	chr10	32728967	.	CAAAT	C	668.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.938;DP=773;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.56;ReadPosRankSum=-2.020e-01;SOR=0.645	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr10	35608199	35608199	G	A	exonic	GJD4	.	nonsynonymous SNV	GJD4:NM_153368:exon2:c.G686A:p.G229E,	.	.	406	1099	16	1	0	18	0.00812274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.95	T	0.675	P	0.163	B	0.090	N	1.000	N	0.695	N	-4.47	D	0.161	D	0.724	D	0.155	1.918	12.37	1.12	0.501	0.566	6.478	0.298	0.0496399882724	.	0.00139776	0.0012	0	0	0	0	0.0002	0.0053	0.0054	0.0005498	85	154602	rs538629092	0.0003	0.0003	0.0002	0.0005	0.0046	0.0003	0.0003	0.0042	0.0041	0.0002	0.0003	0	0	0	0.0031	2.804e-05	0.0006	0.0046	0.0004	0.0004	0.0003	0.0006	0.0062	0.0004	0.0003	0.0045	0.0039	7.228e-05	0	0.0020	0	0.0002	0	0	2.942e-05	0.0005	0.0062	0.646	0.04912	T	0.779	0.04344	T	0.675	0.41275	P	0.163	0.34892	B	0.090348	0.02448	N	1.834020	1	0.08975	N	1.59	0.40313	L	-4.47	0.97583	D	-0.98	0.25986	N	0.121	0.11197	0.161	0.85240	D	0.724	0.90543	D	10	0.004319817	0.00087	T	0.04964	0.63902	D	0.298	0.61843	0.294	0.25720	0.561027722634	0.55763	0.3377256414981641	0.33685	0.357799759759	0.37491	0.339733570814	0.16399	T	0.061685	0.31720	T	-0.301089	0.08558	T	-0.203903	0.54275	T	0.00968756193926473	0.00126	T	0.336266	0.07184	T	0.035647098	0.04236	0.052975927	0.08833	0.035647098	0.04236	0.052975927	0.08832	-3.909	0.22438	T	.	.	0.114	0.22573	B	.	.	1.160027	0.15487	11.89	0.90125036704138561	0.19405	0.02276	0.06567	N	AEFDBI	0.044468	0.07156	N	-0.858748689427508	0.11835	0.573381	-0.926619864055949	0.11466	0.5843499	0.999950510641473	0.48110	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.554799	0.18163	0	.	.	4.76	1.12	0.19700	1.581000	0.36167	0.505000	0.19029	0.575000	0.29119	0.007000	0.17678	0.000000	0.08366	0.000000	0.00833	0.0:0.1727:0.4157:0.4116	6.478	0.21248	733	0.53988	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1571.98	33	chr10	35608199	.	G	A	1571.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.141e+00;DP=877;ExcessHet=0.0000;FS=1.439;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=-2.530e-01;SOR=0.550	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	20	0	1	0
chr10	35608459	35608459	C	T	exonic	GJD4	.	stopgain	GJD4:NM_153368:exon2:c.C946T:p.R316X,	.	.	389	1117	16	0	0	16	0.00711111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	.	.	.	.	0.000	N	1.000	D	.	.	.	.	.	.	.	.	.	3.840	19.50	-1.0	-0.512	-1.285	4.33	.	.	0.0002	0.00339457	0.0100	0.0008	0	0.0035	0	0.0009	0.0070	0.0177	0.0013907	215	154602	rs370286081	0.0011	0.0011	0.0006	0.0016	0.0166	0.0011	0.0010	0.0158	0.0155	3.167e-05	0.0001	0.0014	0	0	0.0025	0.0001	0.0008	0.0166	0.0006	0.0006	0.0004	0.0009	0.0160	0.0005	0.0005	0.0131	0.0121	4.813e-05	0	6.533e-05	0.0014	0	0	0.0034	0.0001	0.0009	0.0160	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.00162	N	16.739100	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.037	0.01135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0100462	0.53031	T	0.25528	0.85871	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	4.485263	0.70018	25.5	0.94085139123831973	0.24237	0.03258	0.08289	N	AEFDBI	0.038770	0.05535	N	-0.460139965595024	0.23397	1.256195	-0.836841060364474	0.13604	0.7066289	0.998718434702171	0.37518	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.554799	0.18163	0	.	.	4.28	-1.0	0.09675	-3.702000	0.00436	-0.020000	0.12938	-0.821000	0.02958	0.000000	0.06391	0.000000	0.08366	0.061000	0.16044	0.5513:0.1735:0.2752:0.0	4.33	0.10498	733	0.53988	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	460.98	33	chr10	35608459	.	C	T	460.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.26;DP=749;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.80;ReadPosRankSum=-9.970e-01;SOR=0.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:28,0:28:75:.:.:0,75,1125	20	0	1	0
chr10	35608472	35608472	A	G	exonic	GJD4	.	nonsynonymous SNV	GJD4:NM_153368:exon2:c.A959G:p.Q320R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.007	B	0.002	B	0.000	N	1.000	N	0.205	N	-4.45	D	0.029	D	0.651	D	0.111	-0.681	1.033	-9.7	-3.384	-0.850	1.951	0.183	0.153649542927	.	.	0.0009	0	0.0088	0	0	0	0.0069	0.0013	9.7e-05	15	154602	rs374623236	6.872e-05	6.84e-05	2.967e-05	0.0001	0.0010	5.75e-05	5.344e-05	0.0009	0.0008	9.498e-05	0	0	0	0	0.0002	2.78e-06	0.0001	0.0010	3.996e-05	3.957e-05	2.603e-05	5.456e-05	0.0011	1.735e-05	1.142e-05	0.0004	0.0003	0	0	0	0	0	0	0	0	0.0005	0.0011	0.684	0.04379	T	0.628	0.07244	T	0.007	0.14184	B	0.002	0.06944	B	0.000437	0.00601	N	3.771580	1	0.08975	N	1.445	0.36358	L	-4.45	0.97538	D	-0.84	0.22944	N	0.098	0.07949	0.029	0.82827	D	0.651	0.87831	D	10	0.005494565	0.00121	T	0.15365	0.83488	D	0.183	0.45592	0.18	0.08751	0.32053947749	0.31673	0.06238369500706082	0.06178	0.309982219948	0.33310	0.402765870094	0.25454	T	0.11123	0.42656	T	-0.354817	0.04431	T	-0.327998	0.41691	T	0.0254077674725834	0.01326	T	0.279972	0.04873	T	0.03254321	0.03299	0.02794241	0.00986	0.03254321	0.03299	0.02794241	0.00986	-2.544	0.06089	T	.	.	0.056	0.00496	B	.	.	-0.518657	0.01808	0.141	0.21415872050088219	0.00815	0.00594	0.02659	N	AEFDBI	0.052924	0.09490	N	-1.79139353703725	0.00566	0.02440011	-1.89811862096921	0.00494	0.02188067	0.999999999995211	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.554799	0.18163	0	.	.	4.85	-9.7	0.00436	-2.240000	0.01280	-0.304000	0.10092	-0.072000	0.16302	0.000000	0.06391	0.000000	0.08366	0.085000	0.17524	0.1182:0.3301:0.2049:0.3468	1.951	0.03162	733	0.53988	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	445.98	33	chr10	35608472	.	A	G	445.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.985e+00;DP=712;ExcessHet=0.0000;FS=5.485;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=-1.249e+00;SOR=0.193	GT:AD:DP:GQ:PL	0/0:28,0:28:84:0,84,882	20	0	1	0
chr10	35640315	35640315	-	CGCCCGGGCCGCCCG	exonic	FZD8	.	nonframeshift insertion	FZD8:NM_031866:exon1:c.1114_1115insCGGGCGGCCCGGGCG:p.G371_G372insAGGPG,	.	.	450	1061	9	2	0	13	0.00608899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.064e-05	5.884e-05	3.025e-05	3.106e-05	0.0002	2.185e-05	1.922e-05	5.917e-05	3.803e-05	0	0	6.434e-05	0	0	0	2.883e-05	2.384e-05	0.0002	0	6.598e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	47.94	37	chr10	35640315	.	C	CCGCCCGGGCCGCCCG	47.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.480;DP=788;ExcessHet=0.0000;FS=2.935;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.40;ReadPosRankSum=-2.840e-01;SOR=0.148	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1164	20	0	1	0
chr10	37147439	37147442	ATAA	-	exonic	ANKRD30A	.	frameshift deletion	ANKRD30A:NM_052997:exon9:c.1357_1360del:p.N454Efs*3,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.711e-05	0	0	0	0	3.113e-05	0	0	1.29e-05	2	154602	rs776918235	1.397e-05	1.505e-05	9.734e-06	1.825e-05	6.262e-05	9.12e-06	7.42e-06	2.39e-05	1.5e-05	6.262e-05	2.609e-05	0	2.544e-05	0	0	7.286e-06	5.079e-05	6.127e-05	3.289e-05	3.285e-05	3.857e-05	2.694e-05	5.886e-05	1.262e-05	7.99e-06	1.973e-05	1.125e-05	2.416e-05	0	0	0	0	0	0	5.886e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4157.05	35	chr10	37147438	.	GATAA	G	4157.05	.	AC=2;AF=0.048;AN=42;DP=780;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=59.97;QD=35.11;SOR=0.804	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1265	20	1	0	0
chr10	37219530	37219530	C	T	exonic	ANKRD30A	.	nonsynonymous SNV	ANKRD30A:NM_052997:exon34:c.C3650T:p.A1217V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.053	B	0.026	B	.	.	1.000	N	1.28	L	2.35	T	-1.010	T	0.033	T	0.017	0.629	7.384	1.01	0.030	2.135	6.509	0.057	0.00197484789136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.741e-06	3.42e-06	2.728e-06	2.755e-06	0.0002	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	2.528e-05	0	0.0002	1.801e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.35537	T	0.127	0.35455	T	0.053	0.22573	B	0.026	0.20792	B	.	.	.	.	0.999998	0.08975	N	1.72	0.44442	L	2.35	0.16217	T	-2.56	0.55501	D	0.111	0.13626	-1.0102	0.26854	T	0.033	0.13986	T	9	0.1028724	0.18881	T	0.001975	0.03535	T	0.057	0.16321	0.224	0.14813	0.269111216191	0.26524	0.002945142285495413	0.00274	0.0404129470778	0.04329	0.906557202339	0.97134	D	0.011957	0.20648	T	-0.374549	0.03370	T	-0.77579	0.02583	T	0.227091684937477	0.21812	T	0.334567	0.07109	T	0.034849357	0.03989	0.11411567	0.27544	0.034849357	0.03988	0.11411567	0.27544	-5.017	0.37024	T	.	.	0.220	0.45298	B	.;.;.;.	.;.;.;.	1.405126	0.18197	13.60	0.98717360950878086	0.45142	0.24515	0.22417	N	AEFI	0.085962	0.17428	N	-0.926673851631092	0.10221	0.4874186	-0.971055389564737	0.10439	0.5257503	0.9965777758221	0.34840	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.91	1.01	0.19044	1.864000	0.39107	-2.511000	0.03665	0.280000	0.18617	0.131000	0.23362	0.000000	0.08366	0.158000	0.20581	0.0:0.7398:0.0:0.2602	6.509	0.21409	934	0.15400	CCDC144C-like, coiled-coil domain;CCDC144C-like, coiled-coil domain;CCDC144C-like, coiled-coil domain;CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2983.98	37	chr10	37219530	.	C	T	2983.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.250e-01;DP=908;ExcessHet=0.0000;FS=3.748;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.01;ReadPosRankSum=0.331;SOR=1.014	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485	20	0	1	0
chr10	37952251	37952251	T	A	exonic	ZNF25	.	nonsynonymous SNV	ZNF25:NM_001329650:exon6:c.A1247T:p.H416L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	0.999	D	3.71	H	-2.18	D	0.901	D	0.840	D	0.888	4.175	21.6	4.76	2.122	7.485	12.543	0.852	0.0749036081092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.656e-05	0	6.568e-06	6.563e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000487	0.43931	D	0.000000	0.99948	0.47237	D	3.88	0.95983	H	-2.18	0.86722	D	-10.84	0.99221	D	0.878	0.87590	0.901	0.95687	D	0.840	0.94656	D	10	0.9714155	0.96755	D	0.074904	0.72156	D	0.852	0.95433	0.811	0.92719	0.990378510434	0.99027	0.41142444468234673	0.41058	0.348541262083	0.36718	0.740057826042	0.72981	T	0.43237	0.78016	T	0.421404	0.91093	D	0.367541	0.90982	D	0.999875068664551	0.99471	D	0.661134	0.27033	T	0.8578233	0.87921	0.7787517	0.86953	0.8578233	0.87922	0.7787517	0.86954	-12.701	0.88094	D	.	.	0.891	0.82143	P	.	.	4.224205	0.63913	24.6	0.97954495237322625	0.37129	0.99612	0.97981	D	AEFDBI	0.852516	0.76943	D	0.902240392591658	0.91869	11.10774	0.800095407817791	0.89801	10.12647	0.999999982980011	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	4.76	4.76	0.60189	5.981000	0.70207	7.802000	0.69178	0.578000	0.29377	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	12.543	0.55530	730	0.54327	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1236.98	35	chr10	37952251	.	T	A	1236.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.37;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.35;ReadPosRankSum=-6.400e-02;SOR=0.706	GT:AD:DP:GQ:PL	0/1:63,46:109:99:1251,0,1723	20	0	1	0
chr10	38054909	38054909	T	C	exonic	ZNF33A	.	nonsynonymous SNV	ZNF33A:NM_001278170:exon4:c.T803C:p.L268P	.	.	10	1508	4	0	0	4	0.0013245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.937	D	0.682	N	1.000	N	2.43	M	3.16	T	-1.090	T	0.061	T	0.456	2.120	13.04	2.05	0.923	2.103	7.665	0.112	.	.	0.00419329	0.0025	0.0002	8.712e-05	0	0	0	0.0011	0.0181	0.0021086	326	154602	rs200374208	0.0011	0.0011	0.0006	0.0015	0.0170	0.0010	0.0010	0.0163	0.0160	5.975e-05	8.952e-05	0	5.042e-05	0	0.0010	8.094e-06	0.0010	0.0170	0.0006	0.0006	0.0004	0.0009	0.0184	0.0005	0.0005	0.0153	0.0142	9.616e-05	0	0.0001	0	0.0006	0	0	0	0	0.0184	0.001	0.78490	D	0.007	0.92824	D	0.979	0.59044	D	0.642	0.52168	P	0.682070	0.10250	N	0.788139	0.999999	0.08975	N	3.205	0.89189	M	3.37	0.07920	T	-1.73	0.69477	N	0.453	0.49055	-1.0903	0.05482	T	0.061	0.25419	T	10	0.006130904	0.00138	T	.	.	.	0.112	0.31546	0.794	0.91511	0.227260227426	0.22338	0.3306828452819045	0.32981	0.279574451876	0.30449	0.227622970939	0.01796	T	0.139751	0.47393	T	-0.435563	0.01373	T	-0.384152	0.35237	T	0.0909761367373596	0.11333	T	0.00836166	0.00058	T	0.4611066	0.64740	0.52216774	0.72393	0.4611066	0.64740	0.52216774	0.72394	-5.471	0.41596	T	.	.	0.123	0.39865	B	.;.;.;.;.	.;.;.;.;.	2.071918	0.26345	17.09	0.99547287434939269	0.70898	0.09794	0.15469	N	AEFGBI	0.127115	0.24435	N	-0.108261376014562	0.37032	2.148781	-0.358738528900337	0.26240	1.448064	0.51741964551593	0.21068	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	2.05	2.05	0.25860	1.787000	0.38336	-0.243000	0.10574	0.500000	0.22704	0.027000	0.20232	0.000000	0.08366	0.391000	0.26581	0.0:0.0:0.0:1.0	7.665	0.27593	675	0.60470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2511.98	39	chr10	38054909	.	T	C	2511.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.765e+00;DP=1228;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=1.33;SOR=0.682	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr10	38054930	38054930	C	T	exonic	ZNF33A	.	nonsynonymous SNV	ZNF33A:NM_001278170:exon4:c.C824T:p.P275L	.	.	9	1473	39	1	0	41	0.0137261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.001	B	0.001	B	0.225	N	1.000	N	0.345	N	3.45	T	-0.950	T	0.002	T	0.118	0.658	7.529	-0.393	0.182	1.534	1.999	0.048	.	0.0035	0.0217652	0.0133	0.0012	0.0035	0.0566	0.0002	0.0045	0.0188	0.0456	0.0122055	1887	154602	rs78340846	0.0086	0.0086	0.0074	0.0097	0.0524	0.0084	0.0084	0.0506	0.0498	0.0008	0.0023	0.0076	0.0524	0.0002	0.0092	0.0048	0.0097	0.0475	0.0065	0.0065	0.0056	0.0074	0.0542	0.0062	0.0060	0.0488	0.0467	0.0013	0.0033	0.0029	0.0055	0.0497	0	0.0034	0.0049	0.0076	0.0542	0.078	0.33923	T	0.081	0.83351	T	0.0	0.02946	B	0.001	0.04355	B	0.225023	0.16049	N	0.462111	1	0.08975	N	0.41	0.12415	N	3.44	0.05375	T	-1.52	0.36980	N	0.262	0.32148	-0.9496	0.41040	T	0.002	0.00526	T	10	0.0029008985	0.00046	T	.	.	.	0.048	0.13305	.	.	.	.	0.19901764050235302	0.19818	0.0329765575475	0.03447	0.223304584622	0.01509	T	0.025939	0.19295	T	-0.691823	0.00041	T	-0.725553	0.04532	T	0.0127520359431619	0.00216	T	0.0432957	0.00347	T	0.037352197	0.04771	0.033255894	0.02190	0.037352197	0.04770	0.033255894	0.02189	-3.84	0.21869	T	.	.	0.087	0.14108	B	.;.;.;.;.	.;.;.;.;.	0.555017	0.09238	6.018	0.66295141590691198	0.08017	0.09166	0.14976	N	AEFGBI	0.049285	0.08497	N	-1.22149415496001	0.04689	0.2121699	-1.29038804668229	0.04559	0.2153426	0.409632238020963	0.20201	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	2.05	-0.393	0.11819	0.505000	0.22352	-2.134000	0.04162	0.452000	0.21348	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2601:0.3828:0.0:0.3571	1.999	0.03252	675	0.60470	.;.;.;.;.	.	.	.	.	rs78340846	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	7999.68	39	chr10	38054930	.	C	T	7999.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=3.92;DP=1584;ExcessHet=0.3300;FS=0.522;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=-4.960e-01;SOR=0.600	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	3	0
chr10	38056360	38056360	G	A	exonic	ZNF33A	.	nonsynonymous SNV	ZNF33A:NM_001278170:exon4:c.G2254A:p.E752K	.	.	12	1506	3	1	0	5	0.00165728	.	.	2314907	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.922	D	0.004	N	0.668	N	1.035	L	1.86	T	-1.004	T	0.083	T	0.43	2.627	14.75	1.92	1.044	3.481	9.408	0.069	0.00108794703943	7.7e-05	.	0.0001	0	0	0	0	0.0002	0	0.0001	9.06e-05	14	154602	rs368504756	9.577e-05	9.577e-05	7.759e-05	0.0001	0.0007	8.242e-05	7.783e-05	0.0002	0.0001	2.988e-05	0.0001	0	0	0	0.0007	9.803e-05	0.0002	0.0001	0.0001	0.0001	0.0002	9.398e-05	0.0002	9.737e-05	8.252e-05	0.0001	0.0001	2.406e-05	0	0.0002	0	0	0	0	0.0002	0.0009	0.0002	0.026	0.65419	D	0.003	0.92824	D	0.936	0.52359	P	0.523	0.48316	P	0.004022	0.34196	N	0.000000	0.668418	0.30386	N	0.99	0.25021	L	1.86	0.24285	T	-3.52	0.68412	D	0.418	0.47765	-1.0042	0.28696	T	0.083	0.32614	T	10	0.16687062	0.31149	T	0.001088	0.01287	T	0.069	0.20116	.	.	0.276898752692	0.27294	0.0729818555879539	0.07235	0.217102352539	0.24225	0.568452000618	0.48458	T	0.083645	0.37101	T	-0.311736	0.07597	T	-0.40085	0.33286	T	0.21594536054438	0.21260	T	0.842416	0.52631	T	0.19258413	0.40933	0.20494466	0.44642	0.19258413	0.40933	0.20494466	0.44641	-8.469	0.64224	D	.	.	0.313	0.60878	B	.;.;.;.;.	.;.;.;.;.	3.612596	0.51079	23.0	0.9963799673242445	0.76449	0.15234	0.18811	N	AEFGBCI	0.279450	0.39349	N	0.078634102367232	0.45468	2.802749	0.0122845754374739	0.40285	2.401694	0.992588275745991	0.32893	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.92	1.92	0.24912	2.601000	0.45912	1.456000	0.26643	0.507000	0.23093	0.998000	0.41325	0.915000	0.28207	0.822000	0.38733	0.0:0.0:1.0:0.0	9.408	0.37636	675	0.60470	Zinc finger C2H2-type;Zinc finger C2H2-type;.;.;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1557.98	39	chr10	38056360	.	G	A	1557.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.12;DP=994;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=-2.540e-01;SOR=0.682	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr10	38056438	38056438	A	G	exonic	ZNF33A	.	nonsynonymous SNV	ZNF33A:NM_001278170:exon4:c.A2332G:p.I778V	.	.	.	.	.	.	.	.	.	.	.	2358111	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.027	B	0.025	B	0.826	N	0.999	N	0	N	3.52	T	-0.939	T	0.013	T	0.038	1.404	10.63	0.685	0.018	1.737	5.199	0.065	0.000693494977257	0.0002	.	9.075e-05	9.63e-05	8.658e-05	0	0	0.0001	0	0	8.41e-05	13	154602	rs143139967	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0	0.0001	3.828e-05	0	0	0.0002	0.0003	0.0003	1.159e-05	0.0001	0.0001	8.99e-05	0.0001	0.0002	7.575e-05	6.28e-05	9.047e-05	7.011e-05	9.648e-05	0	0.0001	0	0	0	0	0.0002	0.0005	0	0.012	0.54683	D	0.018	0.74150	D	0.01	0.15535	B	0.007	0.12992	B	0.826215	0.06913	N	1.121610	0.999075	0.21650	N	1.295	0.32453	L	3.21	0.07125	T	0.55	0.02721	N	0.043	0.03502	-0.9393	0.42727	T	0.013	0.05081	T	10	0.059818447	0.07250	T	6.93E-4	0.00418	T	0.065	0.18881	.	.	0.0762999501168	0.06990	0.020887726050497886	0.02041	0.0303460491513	0.03137	0.233572721481	0.02243	T	0.005262	0.04708	T	-0.557451	0.00263	T	-0.743682	0.03737	T	0.0232850610274876	0.01057	T	0.0509949	0.00415	T	0.02648288	0.01711	0.03654749	0.03125	0.02648288	0.01711	0.03654749	0.03125	-4.195	0.27627	T	.	.	0.075	0.07460	B	.;.;.;.;.	.;.;.;.;.	0.787271	0.11578	8.168	0.730361656412156	0.10184	0.08222	0.14179	N	AEFBCI	0.157179	0.28265	N	-1.12230406128613	0.06248	0.2870981	-1.11008666556778	0.07507	0.3654136	0.0568773713040206	0.15071	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.92	0.685	0.17173	0.905000	0.28127	-0.520000	0.08695	-0.217000	0.08171	0.027000	0.20232	0.000000	0.08366	0.343000	0.25501	0.8294:0.0:0.1706:0.0	5.199	0.14578	675	0.60470	Zinc finger C2H2-type;Zinc finger C2H2-type;.;.;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1117.98	39	chr10	38056438	.	A	G	1117.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=919;ExcessHet=0.0000;FS=1.483;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.39;ReadPosRankSum=0.148;SOR=0.836	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr10	42593386	42593386	A	C	exonic	ZNF33B	.	nonsynonymous SNV	ZNF33B:NM_001305033:exon4:c.T1585G:p.L529V	.	.	10	1508	4	0	0	4	0.0013245	.	.	752089	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.421	B	0.356	B	0.023	N	1.000	N	-0.915	N	2.29	T	-1.039	T	0.016	T	0.193	1.602	11.31	1.43	0.425	2.941	2.945	0.107	0.00152808705804	0.0005	.	0.0004	0	0.0005	0	0	0.0006	0	0	0.0003299	51	154602	rs138366584	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	5.977e-05	0.0005	0.0074	0	0	0.0003	6.385e-05	0.0007	2.319e-05	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	0	0	0.0008	0.0058	0	0	0.0034	8.835e-05	0.0005	0	0.159	0.23813	T	0.073	0.44905	T	0.421	0.35387	B	0.356	0.43023	B	0.023069	0.26512	N	0.000000	0.999882	0.19853	N	-0.17	0.04298	N	2.29	0.17113	T	0.43	0.03297	N	0.055	0.02658	-1.0391	0.17587	T	0.016	0.06664	T	10	0.0051232576	0.00111	T	0.001528	0.02394	T	0.107	0.30369	.	.	0.209622950755	0.20551	0.0384689027870453	0.03792	0.180274561586	0.20283	0.458303391933	0.33077	T	0.017458	0.14244	T	-0.496509	0.00598	T	-0.596944	0.13069	T	0.0488119634043635	0.05290	T	0.105489	0.00786	T	0.07274043	0.16204	0.042837147	0.05193	0.07274043	0.16203	0.042837147	0.05193	-2.259	0.04336	T	.	.	0.108	0.20469	B	.;.	.;.	0.848880	0.12210	8.755	0.99297288943539319	0.58505	0.00145	0.00883	N	AEFDGBHCI	0.058170	0.10892	N	-0.385433477021783	0.25987	1.41488	-0.297084843584519	0.28194	1.570055	0.0451006018820213	0.14638	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	2.58	1.43	0.21585	1.509000	0.35387	.	.	0.466000	0.21733	0.015000	0.19116	0.000000	0.08366	0.969000	0.54022	0.5897:0.2611:0.1492:0.0	2.945	0.05486	.	.	Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1614.98	34	chr10	42593386	.	A	C	1614.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.12;DP=849;ExcessHet=0.0000;FS=8.454;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=-1.980e-01;SOR=1.257	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	20	0	1	0
chr10	42791631	42791631	C	T	exonic	BMS1	.	nonsynonymous SNV	BMS1:NM_014753:exon6:c.C641T:p.A214V,	.	.	430	1091	1	0	0	1	0.000458085	.	.	737476	BMS1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.999	D	0.000	D	1.000	D	2.8	M	2.74	T	-0.944	T	0.090	T	0.733	4.342	22.8	4.75	1.383	7.643	16.700	0.367	.	0.0011	.	0.0042	0.0087	0.0122	0.0171	0	0.0005	0.0022	0.0061	0.0033635	520	154602	rs141772670	0.0008	0.0018	0.0007	0.0008	0.0063	0.0007	0.0007	0.0056	0.0054	0.0027	0.0046	3.912e-05	0.0063	0	0.0007	0.0002	0.0017	0.0030	0.0013	0.0035	0.0012	0.0013	0.0053	0.0011	0.0011	0.0038	0.0032	0.0025	0	0.0015	0	0.0053	0	0	0.0004	0.0014	0.0021	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.047547	0.999997	0.58761	D	4.09	0.97262	H	2.74	0.11730	T	-3.89	0.72820	D	0.775	0.77226	-0.9441	0.41960	T	0.090	0.34436	T	10	0.015581638	0.00327	T	.	.	.	0.367	0.68670	.	.	0.618572585081	0.61548	0.7696799581294451	0.76916	0.493807849893	0.47971	0.812010228634	0.83800	D	0.214248	0.57578	T	0.0951744	0.63767	D	-0.101065	0.63315	T	0.11272264005044	0.13704	T	0.986001	0.95258	D	0.7780009	0.82532	0.6667761	0.80458	0.7780009	0.82533	0.6667761	0.80459	-11.33	0.81437	D	.	.	0.976	0.90412	P	.	.	4.789976	0.77721	26.8	0.99853631651262553	0.93279	0.99126	0.91608	D	AEFBI	0.795434	0.72285	D	0.586561923967927	0.72336	5.789575	0.529991387963047	0.70019	5.443805	0.999102851945407	0.38452	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.66	4.75	0.59954	7.736000	0.83883	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.707000	0.34357	0.0:0.8704:0.1296:0.0	16.700	0.85205	867	0.32089	Bms1/Tsr1-type G domain|Ribosome biogenesis protein Bms1, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	144.98	33	chr10	42791631	.	C	T	144.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.208e+00;DP=665;ExcessHet=0.0000;FS=3.938;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.13;MQRankSum=-2.484e+00;QD=3.92;ReadPosRankSum=-5.140e-01;SOR=0.174	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1098	20	0	1	0
chr10	42791727	42791727	C	T	exonic	BMS1	.	nonsynonymous SNV	BMS1:NM_014753:exon6:c.C737T:p.P246L,	.	.	419	1101	2	0	0	2	0.000907441	.	.	3211187	BMS1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.16	T	1.0	D	0.995	D	0.000	D	1.000	D	2.655	M	0.97	T	-0.655	T	0.180	T	0.762	5.057	30	5.53	2.610	7.643	19.534	0.460	.	0.0005	.	0.0044	0.0087	0.0129	0.0168	0	0.0006	0.0033	0.0062	0.0004226	11	26028	rs116522292	0.0008	0.0019	0.0008	0.0009	0.0065	0.0008	0.0008	0.0058	0.0056	0.0028	0.0063	0	0.0065	0	0.0005	0.0002	0.0015	0.0030	0.0020	0.0041	0.0020	0.0021	0.0090	0.0019	0.0018	0.0070	0.0062	0.0042	0	0.0025	0	0.0090	0	0	0.0005	0.0019	0.0029	0.011	0.55530	D	0.003	0.76473	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.005	0.85968	M	0.97	0.42502	T	-8.92	0.97954	D	0.812	0.80767	-0.6550	0.62495	T	0.180	0.52613	T	10	0.020526499	0.00474	T	.	.	.	0.460	0.75755	.	.	0.641294074137	0.63833	0.7337855777773842	0.73323	0.500006642151	0.48426	0.759230256081	0.75815	T	0.270363	0.64263	T	-0.207725	0.19702	T	-0.0688247	0.65710	T	0.0768609274110822	0.09581	T	0.989301	0.96450	D	0.72395235	0.79382	0.7479536	0.85102	0.72395235	0.79383	0.7479536	0.85103	-11.611	0.82905	D	.	.	0.698	0.72865	P	.	.	5.269782	0.88488	29.6	0.9985603527263347	0.93458	0.98730	0.86119	D	AEFBI	0.836794	0.75451	D	0.852616661326089	0.89258	9.897958	0.822613090829808	0.91318	10.82731	0.999999997628374	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	7.736000	0.83883	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.534	0.95235	867	0.32089	AARP2CN|Bms1/Tsr1-type G domain|AARP2CN|Ribosome biogenesis protein Bms1, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	166.98	33	chr10	42791727	.	C	T	166.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.060e-01;DP=743;ExcessHet=0.0000;FS=1.199;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.40;MQRankSum=-5.079e+00;QD=2.57;ReadPosRankSum=0.418;SOR=0.717	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1098	20	0	1	0
chr10	42820245	42820245	G	A	exonic	BMS1	.	nonsynonymous SNV	BMS1:NM_014753:exon16:c.G2590A:p.A864T,	.	.	434	1062	24	2	0	28	0.0130112	.	.	3221913	BMS1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.25	T	0.452	B	0.055	B	0.000	D	0.766	N	1.345	L	2.3	T	-1.111	T	0.000	T	0.268	1.588	11.27	5.05	2.352	3.884	13.840	0.080	.	.	0.0413339	0.0214	0.0005	0.0012	0.1068	0.0366	0.0036	0.0234	0.0699	0.0188031	2907	154602	rs117641896	0.0099	0.0099	0.0083	0.0115	0.1394	0.0097	0.0097	0.1363	0.1350	0.0002	0.0008	0.0041	0.1394	0.0317	0.0056	0.0008	0.0111	0.0644	0.0098	0.0099	0.0066	0.0132	0.1098	0.0094	0.0092	0.1023	0.0993	0.0003	0	0.0005	0.0032	0.1098	0.0323	0.0068	0.0021	0.0104	0.0806	0.153	0.24372	T	0.2	0.27591	T	0.452	0.36118	B	0.055	0.25995	B	0.000043	0.53742	D	0.122857	0.765727	0.29491	N	.	.	.	2.3	0.16953	T	-0.78	0.21644	N	0.234	0.26354	-1.1110	0.02985	T	0.000	0.00114	T	10	0.0021870434	0.00032	T	.	.	.	0.080	0.23350	.	.	.	.	0.3486463334772223	0.34778	0.245553725906	0.27076	0.558945655823	0.47119	T	0.006068	0.05507	T	-0.643963	0.00079	T	-0.553965	0.16947	T	0.0288878418279347	0.01820	T	0.750625	0.37241	T	0.059695754	0.12161	0.10918052	0.26309	0.059695754	0.12161	0.10918052	0.26308	-5.531	0.42157	T	.	.	0.094	0.14431	B	.	.	1.724231	0.21947	15.42	0.9888946252360642	0.47984	0.93020	0.57124	D	AEFBI	0.345743	0.44079	N	-0.0387931629623697	0.40105	2.37605	0.0539609993363731	0.42265	2.553303	0.400599700177465	0.20127	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.05	5.05	0.67566	4.047000	0.57095	.	.	-0.803000	0.03144	0.979000	0.35152	1.000000	0.68203	0.053000	0.15439	0.0765:0.0:0.9235:0.0	13.840	0.62931	867	0.32089	Ribosome biogenesis protein BMS1/TSR1, C-terminal|Ribosome biogenesis protein BMS1/TSR1, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1401.11	37	chr10	42820245	.	G	A	1401.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.44;DP=834;ExcessHet=0.1072;FS=4.689;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.96;MQRankSum=0.00;QD=11.21;ReadPosRankSum=-1.126e+00;SOR=1.164	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	19	0	2	0
chr10	42820554	42820554	G	A	exonic	BMS1	.	nonsynonymous SNV	BMS1:NM_014753:exon17:c.G2816A:p.R939Q,	.	.	453	1068	1	0	0	1	0.000467946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.996	D	0.914	D	0.000	D	1.000	D	1.48	L	2.35	T	-1.155	T	0.077	T	0.662	4.505	24.2	4.97	2.470	5.473	12.082	0.177	0.0110307179541	.	.	8.515e-06	0	0	0	0	1.552e-05	0	0	6.5e-06	1	154602	rs1044440	1.234e-05	1.3e-05	1.227e-05	1.24e-05	1.529e-05	7.71e-06	6.36e-06	9.32e-06	7.62e-06	0	0	0	0	0	0	1.529e-05	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.15876	T	0.071	0.43531	T	0.996	0.68779	D	0.914	0.64984	D	0.000066	0.52346	D	0.128731	0.999904	0.50806	D	1.53	0.38800	L	2.35	0.16217	T	-2.46	0.53736	N	0.47	0.50598	-1.1555	0.00870	T	0.077	0.30706	T	10	0.47941104	0.60340	T	0.011031	0.28229	T	0.177	0.44549	.	.	0.675300716726	0.67254	0.5205642857640582	0.51979	0.212747302599	0.23780	0.726085960865	0.70934	T	0.050852	0.28712	T	-0.0389782	0.46099	T	-0.293766	0.45379	T	0.924179971218109	0.58521	D	0.89581	0.63671	D	0.14898258	0.33986	0.094158806	0.22275	0.14898258	0.33986	0.094158806	0.22274	-7.433	0.57137	T	.	.	0.153	0.33868	B	.	.	5.505369	0.91630	32	0.9995388088129733	0.99963	0.96011	0.67131	D	AEFBI	0.602207	0.59416	D	0.59734337018288	0.73009	5.896482	0.59821396032564	0.74812	6.201102	0.996455845120292	0.34757	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.97	4.97	0.65419	5.652000	0.67632	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0798:0.0:0.9202:0.0	12.082	0.52976	867	0.32089	Ribosome biogenesis protein BMS1/TSR1, C-terminal|Ribosome biogenesis protein BMS1/TSR1, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1455.98	37	chr10	42820554	.	G	A	1455.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.110e-01;DP=817;ExcessHet=0.0000;FS=0.850;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.93;MQRankSum=-1.225e+00;QD=16.74;ReadPosRankSum=0.329;SOR=0.704	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr10	43200861	43200861	C	T	exonic	RASGEF1A	.	nonsynonymous SNV	RASGEF1A:NM_001282862:exon5:c.G511A:p.A171T	.	.	426	1089	7	0	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.91	T	0.0	B	0.003	B	0.137	N	1.000	N	-0.895	N	1.63	T	-0.974	T	0.020	T	0.244	1.768	11.87	-2.48	-0.282	-0.411	6.092	0.056	0.0039685401739	.	.	6.612e-05	0	0	0	0	7.528e-05	0.0011	0.0001	5.17e-05	8	154602	rs772314795	2.258e-05	2.257e-05	1.361e-05	3.163e-05	0.0010	1.61e-05	1.417e-05	0.0005	0.0003	0	0	0	0	0	0.0010	1.439e-05	8.28e-05	6.956e-05	3.942e-05	3.94e-05	5.138e-05	2.69e-05	5.88e-05	1.715e-05	1.129e-05	1.972e-05	1.124e-05	2.412e-05	0	0	0	0	0	0	5.88e-05	0.0005	0	0.296	0.14694	T	0.524	0.10317	T	0.0	0.02946	B	0.003	0.08700	B	0.136774	0.18435	N	0.512135	0.999957	0.19486	N	-0.49	0.02651	N	1.63	0.28002	T	-0.29	0.11728	N	0.06	0.03175	-0.9738	0.36387	T	0.020	0.08546	T	10	0.027406484	0.00887	T	0.003969	0.09400	T	0.056	0.15993	0.372	0.38340	0.229543500084	0.22568	0.2286911901432003	0.22784	0.704991935162	0.61363	0.306520760059	0.11381	T	0.021042	0.16455	T	-0.378045	0.03205	T	-0.578158	0.14709	T	0.0161368085765476	0.00390	T	0.79512	0.43772	T	0.042239457	0.06371	0.045029063	0.05968	0.042239457	0.06371	0.045029063	0.05967	-4.393	0.29462	T	.	.	0.068	0.02670	B	.;.;.	.;.;.	0.580250	0.09485	6.265	0.96684284510163221	0.30711	0.01521	0.05017	N	AEFDBI	0.080820	0.16347	N	-0.77155441306303	0.14055	0.6970715	-0.79715085046718	0.14565	0.7616731	0.99858138914307	0.37247	0.719381	0.83141	0	0.633656	0.55848	0	0.723133	0.82415	0	0.567892	0.33627	0	.	.	5.18	-2.48	0.06052	-0.793000	0.04695	-0.658000	0.07995	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.1285:0.1889:0.0:0.6826	6.092	0.19220	851	0.35303	.;Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal;Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1048.98	39	chr10	43200861	.	C	T	1048.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.479e+00;DP=857;ExcessHet=0.0000;FS=4.947;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.28;ReadPosRankSum=-4.280e-01;SOR=1.168	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1356	20	0	1	0
chr10	43206023	43206023	C	T	exonic	RASGEF1A	.	nonsynonymous SNV	RASGEF1A:NM_001282862:exon2:c.G118A:p.G40S	.	.	421	1075	1	0	25	26	0.0004649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.0	B	0.0	B	0.141	N	1.000	N	-0.69	N	-0.26	T	-1.106	T	0.002	T	0.105	-1.042	0.205	-6.04	-1.256	-0.577	7.288	0.038	.	0.0012	0.0355431	0.0223	0.0034	0.0008	0.1112	0.0296	0.0023	0.0198	0.0691	0.0154461	2388	154602	rs117610424	0.0082	0.0082	0.0068	0.0096	0.1059	0.0081	0.0080	0.1032	0.1021	0.0013	0.0005	0.0029	0.1059	0.0217	0.0057	0.0005	0.0106	0.0612	0.0086	0.0087	0.0062	0.0112	0.0964	0.0082	0.0081	0.0895	0.0867	0.0020	0	0.0012	0.0032	0.0964	0.0240	0.0034	0.0014	0.0061	0.0702	0.714	0.04032	T	0.728	0.05221	T	0.0	0.02946	B	0.0	0.01387	B	0.141388	0.02889	N	1.688360	1	0.08975	N	0	0.06538	N	-0.29	0.67712	T	0.34	0.03955	N	0.077	0.05162	-1.1060	0.03437	T	0.002	0.00526	T	10	0.0016499162	0.00020	T	.	.	.	0.038	0.09825	.	.	.	.	0.1659222229049595	0.16512	0.724846526864	0.62416	0.330052435398	0.14942	T	0.00418	0.03591	T	-0.626039	0.00101	T	-0.59456	0.13274	T	0.000216800669837077	0.00001	T	0.377862	0.09347	T	0.026439305	0.01702	0.038807113	0.03831	0.026439305	0.01702	0.038807113	0.03830	-4.742	0.34916	T	.	.	0.084	0.09675	B	.;.;.	.;.;.	-0.177307	0.03209	0.533	0.54145436056785945	0.05079	0.07866	0.13857	N	AEFBI	0.068383	0.13486	N	-1.7530624372783	0.00670	0.0289256	-1.79795619577989	0.00766	0.03414931	0.999932391636118	0.46732	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.68	-6.04	0.01995	-0.579000	0.05927	-5.905000	0.01557	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.1782:0.1384:0.6834	7.288	0.25522	851	0.35303	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1768.98	39	chr10	43206023	.	C	T	1768.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=816;ExcessHet=0.0000;FS=0.749;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.87;ReadPosRankSum=0.025;SOR=0.591	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1431	20	0	1	0
chr10	43617343	43617346	AAAG	-	exonic	ZNF485	.	frameshift deletion	ZNF485:NM_001318143:exon3:c.1027_1030del:p.R345Pfs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.577e-05	0	0	0.0001	0	0	0	0.0003	2.59e-05	4	154602	rs776980833	1.703e-05	1.847e-05	1.966e-05	1.434e-05	0.0002	1.152e-05	9.68e-06	9.024e-05	7.067e-05	0	0	0	0	0	0	1.008e-05	1.725e-05	0.0002	6.572e-06	6.568e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	837.94	35	chr10	43617342	.	TAAAG	T	837.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=813;ExcessHet=0.0000;FS=2.687;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.22;ReadPosRankSum=2.25;SOR=1.195	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr10	45003417	45003417	G	A	exonic	ZNF22	.	nonsynonymous SNV	ZNF22:NM_006963:exon2:c.G49A:p.G17R,	.	.	430	1081	11	0	0	11	0.00506213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.001	B	0.002	B	0.061	N	0.579	D	0.695	N	3.12	T	-1.023	T	0.015	T	0.255	3.515	17.96	3.08	0.780	1.873	9.341	0.009	0.00457390789572	7.7e-05	.	0.0003	0	0.0003	0	0	0.0003	0	0.0010	0.0002652	41	154602	rs371899490	0.0002	0.0002	0.0001	0.0002	0.0019	0.0002	0.0002	0.0014	0.0013	0	0.0002	0	0	0	0.0019	9.716e-05	0.0003	0.0016	0.0001	0.0001	8.989e-05	0.0002	0.0005	8.663e-05	7.255e-05	0.0003	0.0002	0	0	0.0005	0	0	0	0	0.0001	0	0.0004	0.002	0.72154	D	0.066	0.44501	T	0.001	0.07471	B	0.002	0.06944	B	0.060965	0.22208	N	0.339880	0.578889	0.32357	D	0.975	0.24501	L	3.12	0.08106	T	0.21	0.04776	N	0.5	0.53269	-1.0234	0.22606	T	0.015	0.05946	T	10	0.023058474	0.00592	T	0.004574	0.11283	T	0.009	0.00846	0.297	0.26202	0.130388298395	0.12655	0.26331360889705774	0.26244	0.849794527335	0.68469	0.518514335155	0.41417	T	0.044674	0.26888	T	-0.485848	0.00685	T	-0.511197	0.21192	T	0.0984501527304406	0.12186	T	0.552145	0.19060	T	0.16930425	0.37439	0.15621036	0.36583	0.16930425	0.37439	0.15621036	0.36582	-3.632	0.18321	T	.	.	0.118	0.23986	B	.	.	3.046892	0.40872	21.2	0.99895272300866567	0.96819	0.17606	0.19909	N	AEFDBI	0.070918	0.14097	N	-0.399090249340621	0.25501	1.384787	-0.246262214286162	0.29900	1.678982	0.99992537436811	0.46280	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	4.94	3.08	0.34576	1.871000	0.39176	8.575000	0.77622	0.654000	0.53741	0.579000	0.27578	1.000000	0.68203	0.952000	0.50033	0.1746:0.0:0.8254:0.0	9.341	0.37243	916	0.20744	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	697.98	37	chr10	45003417	.	G	A	697.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.362;DP=759;ExcessHet=0.0000;FS=0.990;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=-4.440e-01;SOR=0.501	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1176	20	0	1	0
chr10	45445628	45445628	A	C	exonic	ALOX5	.	nonsynonymous SNV	ALOX5:NM_001256154:exon13:c.A1795C:p.K599Q	.	.	425	1084	13	0	0	13	0.00596057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	1.0	D	0.992	D	0.000	D	1.000	D	1.495	L	-1.08	T	-0.231	T	0.500	T	0.477	4.142	21.4	5.44	2.288	7.334	13.502	0.476	0.0527487842225	0.0023	0.00239617	0.0016	0.0050	0.0019	0.0005	0.0002	0.0007	0.0022	0.0039	0.0014812	229	154602	rs140481567	0.0012	0.0012	0.0012	0.0012	0.0053	0.0011	0.0011	0.0047	0.0044	0.0053	0.0010	0.0002	0.0008	0.0001	0.0016	0.0009	0.0013	0.0040	0.0019	0.0019	0.0020	0.0019	0.0054	0.0017	0.0017	0.0041	0.0039	0.0046	0	0.0010	0.0003	0.0004	0	0.0034	0.0007	0.0033	0.0054	0.029	0.55530	D	0.085	0.41405	T	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.01	0.25309	L	-1.08	0.77078	T	-1.22	0.31170	N	0.441	0.47949	-0.2311	0.76858	T	0.500	0.81101	T	10	0.0048487186	0.00103	T	0.052749	0.65193	D	0.476	0.76816	.	.	0.870600292467	0.86933	0.763350267390799	0.76283	0.446155826543	0.44492	0.476433992386	0.35566	T	0.336634	0.70612	T	-0.266477	0.12154	T	-0.153772	0.58908	T	0.0250310452366018	0.01277	T	.	.	.	0.5999008	0.72686	0.36787856	0.62089	0.5999008	0.72687	0.36787856	0.62088	-3.926	0.22693	T	.	.	0.113	0.26855	B	.;.	.;.	3.570297	0.50282	22.9	0.99392303818643579	0.62383	0.94543	0.61507	D	AEFDBCIJ	0.940735	0.94308	D	0.597384865930969	0.73009	5.896884	0.620012253222176	0.76393	6.482988	0.999999999118198	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.44	5.44	0.79348	6.184000	0.71943	7.020000	0.57263	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	13.502	0.60917	861	0.33516	.;Lipoxygenase, C-terminal|Lipoxygenase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1534.98	33	chr10	45445628	.	A	C	1534.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.382;DP=873;ExcessHet=0.0000;FS=2.158;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=0.823;SOR=0.524	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr10	45463683	45463683	G	A	exonic	MARCHF8	.	nonsynonymous SNV	MARCHF8:NM_001282866:exon5:c.C556T:p.L186F,	.	.	419	1090	13	0	0	13	0.00592795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	D	.	.	.	.	-0.768	T	0.161	T	.	1.307	10.28	3.63	0.668	2.263	8.696	0.088	0.0530832634833	.	0.000798722	0.0025	0	0	0	0	0.0022	0.0097	0.0037	0.0003881	60	154602	rs147126303	0.0006	0.0006	0.0005	0.0007	0.0033	0.0006	0.0006	0.0030	0.0029	6.33e-05	0.0010	0.0072	0	2.071e-05	0.0023	0.0003	0.0011	0.0033	0.0005	0.0005	0.0006	0.0005	0.0019	0.0004	0.0004	0.0010	0.0007	0.0001	0	0.0008	0.0066	0	0	0.0034	0.0003	0.0019	0.0019	.	.	.	0.212	0.26549	T	.	.	.	.	.	.	.	.	.	.	0.56145	0.32216	D	.	.	.	.	.	.	.	.	.	0.056	0.02759	.	.	.	.	.	.	.	0.0042395294	0.00085	T	0.053083	0.65328	D	.	.	.	.	0.247322355667	0.24350	0.0875715780501058	0.08690	.	.	0.26434519887	0.05420	T	.	.	.	-0.570796	0.00219	T	-0.593842	0.13335	T	0.0208525229245424	0.00786	T	0.538146	0.18126	T	.	.	.	.	.	.	.	.	-4.486	0.30705	T	.	.	0.066	0.02228	B	.	.	1.418918	0.18356	13.69	0.97589054991226365	0.34780	0.40398	0.26428	N	AEFDGBCIJ	0.164753	0.29117	N	-0.345745499767329	0.27429	1.505	-0.385681853882267	0.25422	1.398005	0.999999341389703	0.74766	0.554377	0.28877	0	0.435331	0.06439	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.51	3.63	0.40741	2.204000	0.42397	6.588000	0.56017	-0.127000	0.13314	0.164000	0.23853	1.000000	0.68203	0.980000	0.58198	0.0799:0.0:0.7695:0.1506	8.696	0.33457	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1904.98	33	chr10	45463683	.	G	A	1904.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.026e+00;DP=983;ExcessHet=0.0000;FS=3.763;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=-1.849e+00;SOR=0.615	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,111,1665	20	0	1	0
chr10	45752615	45752615	C	A	exonic	WASHC2C	.	nonsynonymous SNV	WASHC2C:NM_001367404:exon10:c.C872A:p.P291H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	2.645	M	.	.	-0.041	T	0.436	T	0.758	3.703	18.81	3.52	1.957	6.126	12.928	0.592	0.0142577363614	.	0.00119808	0.0005	0	0	0	0.0003	6.034e-05	0.0022	0.0035	0.0002305	6	26028	rs200898572	0.0002	0.0002	9.416e-05	0.0002	0.0019	0.0001	0.0001	0.0016	0.0016	3.011e-05	2.237e-05	0	0	0.0001	0	3.151e-05	0.0003	0.0019	9.897e-05	0.0001	6.45e-05	0.0001	0.0029	6.031e-05	4.899e-05	0.0018	0.0014	0	0	0	0	0	0	0.0034	0	0	0.0029	0.001	0.91255	D	0.003	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	.	.	.	.	.	.	-7.29	0.94537	D	0.807	0.80278	-0.0405	0.81407	T	0.436	0.77612	T	9	0.015824288	0.00332	T	0.014258	0.34257	T	0.592	0.83747	0.414	0.45216	0.501308276186	0.49768	0.3712156956301726	0.37035	.	.	0.705606937408	0.67955	T	0.260038	0.63137	T	-0.063534	0.42354	T	0.131346	0.78981	D	0.296265185932059	0.24849	T	0.936706	0.81731	D	0.86050075	0.88124	0.7354769	0.84366	0.86050075	0.88125	0.7354769	0.84367	-13.663	0.92237	D	.	.	0.701	0.72980	P	.;.;.;.;.;.	.;.;.;.;.;.	4.802189	0.78040	26.8	0.99704238719062466	0.80867	0.96971	0.71949	D	AEFI	0.534587	0.55357	D	0.695798100273196	0.79355	7.060631	0.592854769491069	0.74425	6.135092	0.00692606190868397	0.11343	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	3.52	3.52	0.39415	6.358000	0.72997	7.588000	0.61163	0.423000	0.20817	1.000000	0.71638	1.000000	0.68203	0.687000	0.33748	0.0:1.0:0.0:0.0	12.928	0.57668	762	0.50290	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	984.33	35	chr10	45752615	.	C	A	984.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.622e+00;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=55.16;MQRankSum=0.217;QD=11.06;ReadPosRankSum=-5.460e-01;SOR=0.665	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	19	0	1	1
chr10	45769584	45769584	A	G	exonic	WASHC2C	.	nonsynonymous SNV	WASHC2C:NM_001367404:exon18:c.A1846G:p.K616E	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.0	B	0.001	B	0.014	N	0.998	N	-0.895	N	.	.	-0.980	T	0.021	T	0.088	0.321	5.738	2.37	0.234	1.585	5.901	0.010	0.00117281335192	.	0.00119808	.	.	.	.	.	.	.	.	0.0009989	26	26028	rs373466053	0.0003	0.0009	0.0003	0.0003	0.0010	0.0003	0.0003	0.0008	0.0007	0.0010	0.0010	0.0006	0.0004	3.763e-05	0	0.0002	0.0005	0.0003	0.0021	0.0052	0.0021	0.0020	0.0040	0.0019	0.0018	0.0032	0.0029	0.0031	0	0.0040	0.0024	0.0018	9.653e-05	0	0.0015	0.0010	0.0006	0.502	0.14694	T	0.371	0.22627	T	.	.	.	.	.	.	0.013995	0.28669	N	0.382886	1	0.08975	N	.	.	.	.	.	.	1.65	0.00613	N	0.111	0.15328	-0.9800	0.35002	T	0.021	0.08778	T	9	0.015229255	0.00320	T	0.001173	0.01484	T	0.010	0.01040	.	.	0.0611884634855	0.05136	0.015808045881120773	0.01536	.	.	0.406482577324	0.25970	T	0.005229	0.04677	T	-0.514199	0.00475	T	-0.618903	0.11272	T	0.00788461084807475	0.00093	T	0.163984	0.04475	T	0.04777472	0.08221	0.04970252	0.07649	0.04777472	0.08221	0.04970252	0.07649	-1.542	0.02198	T	.	.	0.046	0.00496	B	.;.;.;.;.;.	.;.;.;.;.;.	2.179834	0.27787	17.58	0.97387548998575335	0.33706	0.00429	0.02107	N	AEFI	0.013791	0.00196	N	-1.11112314972897	0.06444	0.2966682	-0.986961355819167	0.10077	0.5053176	1.78034075801002E-5	0.02871	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	3.29	2.37	0.28337	1.855000	0.39018	5.075000	0.47214	-0.229000	0.07765	0.985000	0.35982	1.000000	0.68203	0.453000	0.27962	0.256:0.0:0.744:0.0	5.901	0.18210	766	0.49742	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	372.98	36	chr10	45769584	.	A	G	372.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.10;DP=845;ExcessHet=0.0000;FS=35.890;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=49.51;MQRankSum=-7.542e+00;QD=2.63;ReadPosRankSum=-2.841e+00;SOR=3.854	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr10	45826403	45826403	G	C	exonic	AGAP4	.	nonsynonymous SNV	AGAP4:NM_133446:exon7:c.C1504G:p.P502A	.	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.999	D	0.000	D	1.000	D	1.705	L	1.04	T	-0.924	T	0.168	T	0.24	2.057	12.83	.	0.107	6.468	5.89	0.233	0.00510583115485	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1233303790	3.564e-05	3.626e-05	2.592e-05	4.547e-05	0.0009	2.768e-05	2.506e-05	0.0004	0.0002	0	4.474e-05	0	0	0	0.0009	3.784e-05	4.98e-05	0	2.039e-05	1.978e-05	1.321e-05	2.801e-05	0.0002	5.42e-06	2.5e-06	5.04e-06	1.89e-06	0	0	0	0	0	0	0	3.04e-05	0	0.0002	0.035	0.43708	D	0.009	0.67890	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999959	0.52396	D	2.3	0.65703	M	1.04	0.40218	T	-7.22	0.94274	D	0.246	0.33904	-0.9245	0.44929	T	0.168	0.50729	T	9	0.24220347	0.41412	T	0.005106	0.12939	T	0.233	0.53499	.	.	0.12205267543	0.11705	0.012365769251499934	0.01195	.	.	0.685354232788	0.65039	T	0.089209	0.38324	T	-0.11604	0.33773	T	-0.40446	0.32865	T	0.968478679656982	0.68256	D	0.968203	0.88468	D	0.4607188	0.64716	0.382237	0.63215	0.4607188	0.64716	0.382237	0.63215	-10.15	0.74805	D	.	.	0.195	0.43653	B	.;.;.;.	.;.;.;.	2.605744	0.33832	19.46	0.94165509885994392	0.24375	0.69351	0.34154	D	AEFI	0.400497	0.47536	N	-0.164969699068453	0.34600	1.976877	-0.423520318219062	0.24309	1.330451	9.2069006774815E-4	0.08000	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.620846	0.47308	0	.	.	.	.	.	6.869000	0.75317	3.214000	0.36817	0.117000	0.17636	1.000000	0.71638	1.000000	0.68203	0.166000	0.20848	8.0E-4:0.0:0.9992:0.0	5.89	0.18149	751	0.51694	Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein;Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein;Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein;Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2504.98	34	chr10	45826403	.	G	C	2504.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.770e-01;DP=1580;ExcessHet=0.0000;FS=3.302;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=32.49;MQRankSum=-7.010e-01;QD=12.98;ReadPosRankSum=0.577;SOR=0.968	GT:AD:DP:GQ:PL	0/0:65,0:65:99:0,120,1800	20	0	1	0
chr10	45828081	45828081	C	G	splicing	AGAP4	NM_001291379:exon9:c.210-1G>C;NM_001276343:exon7:c.534-1G>C;NM_133446:exon6:c.465-1G>C	.	.	.	.	705	795	11	11	0	33	0.0203327	1.0000	0.672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	-0.466	1.846	1.68	1.246	3.739	6.854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259220018	0.0090	0.0077	0.0082	0.0097	0.0262	0.0088	0.0087	0.0205	0.0186	0.0012	0.0068	0.0048	9.438e-05	0.0119	0.0262	0.0086	0.0075	0.0201	0.0062	0.0065	0.0062	0.0061	0.0121	0.0058	0.0057	0.0095	0.0086	0.0011	0.0146	0.0075	0.0042	0.0004	0.0112	0.0360	0.0081	0.0073	0.0121	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0721765	0.40978	T	-0.341453	0.40179	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.993006	0.94285	34	0.85737994814547802	0.16081	0.86269	0.45516	D	AEFI	.	.	.	0.551673247133502	0.70185	5.464414	0.239839142706968	0.52072	3.384739	4.27802207330989E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.063197	0.01477	0	0.101684	0.03063	0	0.185915	0.29733	1.68	1.68	0.23219	3.803000	0.55264	5.199000	0.47926	0.270000	0.18506	1.000000	0.71638	1.000000	0.68203	0.087000	0.17632	0.0:1.0:0.0:0.0	6.854	0.23214	751	0.51694	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	390.0	20	chr10	45828081	.	C	G	390.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=572;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0259;MLEAC=1;MLEAF=0.024;MQ=25.78;MQRankSum=0.052;QD=12.58;ReadPosRankSum=0.179;SOR=0.474	GT:AD:DP:GQ:PL	0/0:21,0:21:60:0,60,685	20	0	1	0
chr10	46010437	46010437	G	A	exonic	NCOA4	.	nonsynonymous SNV	NCOA4:NM_001145262:exon8:c.C1484T:p.S495L	.	.	8	1510	4	0	0	4	0.00132275	.	.	723950	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	N	1.000	A	.	.	.	.	.	.	.	.	.	6.139	37	6.16	2.937	3.625	16.243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs142672975	0.0023	0.0023	0.0022	0.0023	0.0134	0.0022	0.0022	0.0125	0.0121	0.0003	0.0107	0.0055	0.0134	9.36e-05	0.0005	0.0012	0.0043	0.0064	0.0023	0.0023	0.0023	0.0022	0.0189	0.0021	0.0020	0.0159	0.0147	0.0005	0	0.0047	0.0066	0.0189	0	0	0.0012	0.0024	0.0083	.	.	.	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.46	0.32238	T	.	.	.	0.384	0.52829	.	.	.	.	.	.	.	0.014239132	0.00300	T	.	.	.	.	.	.	.	.	.	0.7078631890691698	0.70728	.	.	.	.	.	0.37216	0.73640	T	.	.	.	.	.	.	.	.	.	0.824218	0.51512	T	.	.	.	.	.	.	.	.	-6.465	0.51697	T	.	.	0.087	0.13876	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.006117	0.59070	24.1	.	.	.	.	.	.	0.804552	0.72938	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.316000	0.65599	11.774000	0.95935	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	.	.	.	544	0.72685	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	857.98	40	chr10	46010437	.	G	A	857.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.736;DP=762;ExcessHet=0.0000;FS=6.244;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=-1.040e+00;SOR=1.396	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1385	20	0	1	0
chr10	46010599	46010599	C	T	exonic	NCOA4	.	nonsynonymous SNV	NCOA4:NM_001145262:exon8:c.G1322A:p.G441E	.	.	9	1509	4	0	0	4	0.00132363	.	.	723951	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	1.0	D	0.999	D	0.000	D	1.000	D	2.295	M	-0.02	T	-0.186	T	0.456	T	0.639	4.469	23.9	5.6	2.647	9.300	19.608	0.396	0.0149145007315	.	.	.	.	.	.	.	.	.	.	.	.	.	rs146205784	0.0024	0.0024	0.0023	0.0024	0.0135	0.0023	0.0023	0.0125	0.0121	0.0099	0.0112	7.652e-05	0.0135	0	0.0021	0.0011	0.0045	0.0064	0.0047	0.0048	0.0049	0.0046	0.0189	0.0044	0.0043	0.0159	0.0147	0.0100	0	0.0055	0	0.0189	0	0	0.0011	0.0033	0.0083	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.01	0.62762	T	.	.	.	0.747	0.81261	.	.	.	.	.	.	.	0.1420131	0.26978	T	.	.	.	.	.	.	.	.	.	0.8665763029746564	0.86622	.	.	.	.	.	0.525365	0.83477	D	.	.	.	.	.	.	.	.	.	0.947605	0.79780	D	.	.	.	.	.	.	.	.	-2.165	0.04249	T	.	.	0.840	0.82782	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.875479	0.56290	23.7	.	.	.	.	.	.	0.947421	0.95796	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.664000	0.67715	5.932000	0.51336	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	.	.	.	544	0.72685	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1083.98	40	chr10	46010599	.	C	T	1083.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.478;DP=774;ExcessHet=0.0000;FS=5.994;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.38;ReadPosRankSum=-1.650e-01;SOR=1.385	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1385	20	0	1	0
chr10	46011178	46011178	T	C	exonic	NCOA4	.	nonsynonymous SNV	NCOA4:NM_001145262:exon8:c.A743G:p.N248S	.	.	9	1508	5	0	0	5	0.00165508	.	.	723952	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.47	T	0.028	B	0.016	B	0.146	N	1.000	N	1.245	L	1.49	T	-1.003	T	0.085	T	0.083	0.772	8.081	-0.178	-0.278	0.142	6.171	0.040	0.00214094174632	.	.	.	.	.	.	.	.	.	.	.	.	.	rs117257055	0.0025	0.0026	0.0025	0.0026	0.0148	0.0024	0.0024	0.0138	0.0134	0.0101	0.0113	7.999e-05	0.0148	0.0004	0.0020	0.0013	0.0048	0.0064	0.0051	0.0051	0.0052	0.0050	0.0210	0.0048	0.0047	0.0178	0.0166	0.0102	0	0.0069	0	0.0210	0.0002	0	0.0012	0.0033	0.0083	.	.	.	0.729	0.05506	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.54	0.30133	T	.	.	.	0.025	0.00717	.	.	.	.	.	.	.	0.0031405091	0.00052	T	.	.	.	.	.	.	.	.	.	0.07201057075622232	0.07138	.	.	.	.	.	0.030708	0.21706	T	.	.	.	.	.	.	.	.	.	0.313569	0.06164	T	.	.	.	.	.	.	.	.	-2.326	0.04935	T	.	.	0.045	0.00050	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.513265	0.01825	0.144	.	.	.	.	.	.	0.098707	0.19884	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.113000	0.10745	-1.263000	0.05873	-0.854000	0.02687	0.285000	0.25187	0.000000	0.08366	0.930000	0.46718	.	.	.	545	0.72614	Nuclear coactivator;Nuclear coactivator;Nuclear coactivator;Nuclear coactivator;Nuclear coactivator;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2743.98	40	chr10	46011178	.	T	C	2743.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.223;DP=879;ExcessHet=0.0000;FS=2.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.60;ReadPosRankSum=2.82;SOR=0.515	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1385	20	0	1	0
chr10	46287291	46287291	A	G	exonic	ANTXRL	.	nonsynonymous SNV	ANTXRL:NM_001278688:exon1:c.A29G:p.Y10C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00707434235237	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1202158855	1.445e-05	1.368e-05	1.427e-05	1.465e-05	5.049e-05	9.44e-06	7.67e-06	1.679e-05	9.94e-06	0	0	0	2.798e-05	0	0	9.27e-06	8.635e-05	5.049e-05	6.575e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	1.0	0.04720	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	.	.	.	.	.	.	0.043	0.04307	.	.	.	.	.	.	.	0.04701388	0.03964	T	0.007074	0.18731	T	.	.	.	.	0.141422826196	0.13715	0.7493181341140666	0.74877	.	.	.	.	.	4.7E-4	0.00170	T	-0.407293	0.02072	T	-0.695046	0.06100	T	.	.	.	0.451655	0.12799	T	0.03572179	0.04258	0.052835636	0.08782	0.03572179	0.04257	0.052835636	0.08781	-1.606	0.01996	T	.	.	0.047	0.00248	B	.;.	.;.	0.442371	0.08128	4.855	0.35625716914135502	0.02246	0.00196	0.01131	N	AEFDBCI	0.013482	0.00181	N	.	.	.	.	.	.	0.742521553551769	0.23235	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.26	-1.16	0.09181	0.276000	0.18478	-20.000000	0.00162	-1.817000	0.00605	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.27:0.1553:0.4156:0.1591	1.070	0.01519	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	535.98	33	chr10	46287291	.	A	G	535.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=749;ExcessHet=0.0000;FS=1.122;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.51;ReadPosRankSum=1.66;SOR=0.470	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1421	20	0	1	0
chr10	46313249	46313249	C	T	exonic	ANTXRL	.	nonsynonymous SNV	ANTXRL:NM_001278688:exon16:c.C1343T:p.T448I	.	.	426	1088	8	0	0	8	0.003663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0213949736255	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs190568406	0.0004	0.0008	0.0004	0.0004	0.0014	0.0004	0.0004	0.0007	0.0005	0.0002	0.0002	0.0005	0	0.0002	0.0014	0.0005	0.0004	5.049e-05	0.0008	0.0008	0.0007	0.0008	0.0013	0.0006	0.0006	0.0011	0.0010	0.0003	0	0.0004	0.0012	0	9.411e-05	0	0.0013	0.0009	0	.	.	.	0.042	0.59732	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.545	0.39105	L	.	.	.	.	.	.	0.184	0.19995	.	.	.	.	.	.	.	0.036904305	0.02014	T	0.021395	0.44162	T	.	.	.	.	0.0611884634855	0.05136	0.30795949542158546	0.30708	.	.	.	.	.	0.012131	0.10712	T	-0.545759	0.00309	T	-0.602273	0.12622	T	.	.	.	0.339966	0.07366	T	0.024932707	0.01376	0.056761313	0.10200	0.024932707	0.01376	0.056761313	0.10200	-3.88	0.22002	T	.	.	0.137	0.29860	B	.;.	.;.	0.313315	0.06882	3.418	0.99151443014351226	0.53820	0.00693	0.02956	N	AEFDBI	0.027687	0.02306	N	.	.	.	.	.	.	6.58609944429024E-4	0.07551	0.446893	0.09132	0	0.563428	0.19063	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.27	-2.4	0.06204	-0.271000	0.08603	-12.722000	0.00505	-1.815000	0.00607	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1661:0.2941:0.3261:0.2138	1.138	0.01650	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1745.98	33	chr10	46313249	.	C	T	1745.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.900e-02;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.38;MQRankSum=-2.455e+00;QD=19.84;ReadPosRankSum=-1.800e-01;SOR=0.780	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1281	20	0	1	0
chr10	46313254	46313254	T	C	exonic	ANTXRL	.	nonsynonymous SNV	ANTXRL:NM_001278688:exon16:c.T1348C:p.C450R	.	.	426	1088	8	0	0	8	0.003663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017256744776	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs187031765	0.0004	0.0007	0.0004	0.0004	0.0011	0.0004	0.0004	0.0005	0.0004	0.0001	0.0003	0.0006	0	0.0002	0.0011	0.0004	0.0004	5.049e-05	0.0007	0.0007	0.0007	0.0007	0.0013	0.0006	0.0006	0.0011	0.0010	0.0001	0	0.0004	0.0012	0	9.411e-05	0	0.0013	0.0009	0	.	.	.	0.078	0.54934	T	.	.	.	.	.	.	.	.	.	.	0.999984	0.18612	N	1.935	0.51832	L	.	.	.	.	.	.	0.397	0.43803	.	.	.	.	.	.	.	0.12304172	0.23351	T	0.017257	0.38885	T	.	.	.	.	0.132336055621	0.12781	0.4710057341761243	0.47019	.	.	.	.	.	0.073764	0.34775	T	-0.342322	0.05228	T	-0.31005	0.43653	T	.	.	.	0.236176	0.03527	T	0.20464373	0.42580	0.34049287	0.59801	0.20464373	0.42580	0.34049287	0.59800	-3.025	0.10453	T	.	.	0.238	0.47161	B	.;.	.;.	1.543362	0.19791	14.44	0.91588314031009033	0.20869	0.03022	0.07900	N	AEFDBI	0.051242	0.09035	N	.	.	.	.	.	.	0.00433274777723822	0.10505	0.446893	0.09132	0	0.563428	0.19063	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.27	2.12	0.26372	1.228000	0.32190	0.796000	0.21614	-1.478000	0.01061	0.206000	0.24378	0.001000	0.17328	0.000000	0.00833	0.0:0.0:0.2438:0.7562	6.679	0.22302	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1787.98	33	chr10	46313254	.	T	C	1787.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.441e+00;DP=801;ExcessHet=0.0000;FS=0.793;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.39;MQRankSum=-2.427e+00;QD=20.09;ReadPosRankSum=-4.900e-02;SOR=0.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1281	20	0	1	0
chr10	46313269	46313269	G	C	exonic	ANTXRL	.	nonsynonymous SNV	ANTXRL:NM_001278688:exon16:c.G1363C:p.A455P	.	.	423	1091	8	0	0	8	0.00365297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00639025494625	.	0.000199681	0.0001	0	0	0	0	0.0005	0	0	0.0003458	9	26028	rs192798365	0.0004	0.0008	0.0004	0.0004	0.0009	0.0004	0.0003	0.0004	0.0004	0.0001	0.0003	0.0006	0	0.0002	0.0009	0.0004	0.0004	3.787e-05	0.0007	0.0007	0.0007	0.0007	0.0013	0.0006	0.0006	0.0011	0.0010	0.0001	0	0.0005	0.0012	0	9.416e-05	0	0.0013	0.0009	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.79	0.00298	N	.	.	.	.	.	.	0.123	0.11483	.	.	.	.	.	.	.	0.01405102	0.00296	T	0.00639	0.16812	T	.	.	.	.	0.110078149338	0.10416	0.19140578382896617	0.19058	.	.	.	.	.	0.001843	0.01261	T	-0.568728	0.00225	T	-0.635266	0.10018	T	.	.	.	0.316668	0.06305	T	0.073680714	0.16482	0.103878215	0.24936	0.073680714	0.16482	0.103878215	0.24935	-2.482	0.05660	T	.	.	0.051	0.00195	B	.;.	.;.	-0.080311	0.03761	0.784	0.057402479188630604	0.00014	0.00027	0.00265	N	AEFDGBI	0.011695	0.00109	N	.	.	.	.	.	.	0.00868536669359893	0.11722	0.446893	0.09132	0	0.563428	0.19063	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	2.4	0.408	0.15595	0.612000	0.23979	0.578000	0.19676	-0.174000	0.10959	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.4064:0.4497:0.1439	4.619	0.11829	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1714.98	33	chr10	46313269	.	G	C	1714.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.960e-01;DP=796;ExcessHet=0.0000;FS=2.909;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.35;MQRankSum=-2.340e+00;QD=20.42;ReadPosRankSum=0.354;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1281	20	0	1	0
chr10	46313279	46313279	A	G	exonic	ANTXRL	.	nonsynonymous SNV	ANTXRL:NM_001278688:exon16:c.A1373G:p.H458R	.	.	424	1090	8	0	0	8	0.00365631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0267536234625	.	0.000199681	0.0001	0	0	0	0	0.0005	0	0	7.76e-05	12	154602	rs182808780	0.0004	0.0008	0.0004	0.0004	0.0011	0.0004	0.0004	0.0005	0.0004	0.0001	0.0003	0.0006	0	0.0002	0.0011	0.0005	0.0004	5.049e-05	0.0007	0.0007	0.0007	0.0007	0.0013	0.0006	0.0006	0.0011	0.0010	0.0001	0	0.0004	0.0012	0	9.411e-05	0	0.0013	0.0009	0	.	.	.	0.347	0.28210	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.55	0.14455	N	.	.	.	.	.	.	0.08	0.05542	.	.	.	.	.	.	.	0.014372289	0.00302	T	0.026754	0.49639	D	.	.	.	.	0.0846915920261	0.08053	0.2070598144606493	0.20621	.	.	.	.	.	0.013024	0.11342	T	-0.649029	0.00073	T	-0.750613	0.03462	T	.	.	.	0.225777	0.02969	T	0.02699512	0.01831	0.07338199	0.15941	0.02699512	0.01831	0.07338199	0.15940	-3.341	0.14272	T	.	.	0.073	0.04806	B	.;.	.;.	-0.687725	0.01349	0.075	0.28021838743516009	0.01419	0.00541	0.02492	N	AEFDGBI	0.026721	0.02056	N	.	.	.	.	.	.	0.0641292988553547	0.15319	0.446893	0.09132	0	0.563428	0.19063	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	2.96	-3.76	0.04074	-1.510000	0.02366	-12.852000	0.00496	-2.511000	0.00260	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5964:0.0:0.4036:0.0	8.525	0.32458	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1625.98	33	chr10	46313279	.	A	G	1625.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.230e-01;DP=794;ExcessHet=0.0000;FS=1.787;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.34;MQRankSum=-2.485e+00;QD=19.59;ReadPosRankSum=1.66;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1281	20	0	1	0
chr10	46313298	46313298	T	G	exonic	ANTXRL	.	nonsynonymous SNV	ANTXRL:NM_001278688:exon16:c.T1392G:p.C464W	.	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0047398973567	.	0.000199681	0.0001	0	0	0	0	0.0005	0	0	0.0001229	19	154602	rs79756825	0.0006	0.0009	0.0006	0.0006	0.0011	0.0005	0.0005	0.0006	0.0006	0.0002	0.0003	0.0007	0	0.0002	0.0011	0.0006	0.0006	5.049e-05	0.0007	0.0007	0.0007	0.0007	0.0013	0.0006	0.0006	0.0011	0.0010	0.0001	0	0.0004	0.0012	0	9.413e-05	0	0.0013	0.0009	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.275	0.00739	N	.	.	.	.	.	.	0.207	0.28732	.	.	.	.	.	.	.	0.017588705	0.00376	T	0.00474	0.11816	T	.	.	.	.	0.0611884634855	0.05136	0.47825112985140805	0.47745	.	.	.	.	.	0.003779	0.03191	T	-0.500165	0.00570	T	-0.53678	0.18615	T	.	.	.	0.277772	0.04827	T	0.21017422	0.43306	0.2727908	0.53193	0.21017422	0.43306	0.2727908	0.53192	-5.071	0.37600	T	.	.	0.070	0.03443	B	.;.	.;.	0.080844	0.04871	1.459	0.18509065259095711	0.00585	0.00031	0.00285	N	AEFDBI	0.020480	0.00813	N	.	.	.	.	.	.	0.0020565962379748	0.09120	0.446893	0.09132	0	0.563428	0.19063	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	2.76	-0.527	0.11314	0.008000	0.13095	-1.006000	0.06630	-0.681000	0.04224	0.010000	0.18352	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.3385:0.6615	8.723	0.33615	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1095.98	33	chr10	46313298	.	T	G	1095.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.070e-01;DP=791;ExcessHet=0.0000;FS=1.966;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.30;MQRankSum=-2.292e+00;QD=15.01;ReadPosRankSum=0.820;SOR=0.430	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1281	20	0	1	0
chr10	46461921	46461921	G	A	exonic	NPY4R	.	nonsynonymous SNV	NPY4R:NM_001278794:exon2:c.C715T:p.R239W	.	.	822	688	5	7	0	19	0.0136201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs1345405076	0.0105	0.0089	0.0108	0.0102	0.0128	0.0103	0.0103	0.0126	0.0125	0.0035	0.0034	0.0014	0.0002	0.0022	0.0024	0.0128	0.0072	0.0035	0.0084	0.0069	0.0084	0.0084	0.0116	0.0078	0.0076	0.0107	0.0103	0.0058	0	0.0093	0.0017	0	0.0025	0	0.0116	0.0036	0.0023	0.168	0.23007	T	0.196	0.27943	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.05	0.39990	T	-0.22	0.10480	N	0.181	0.19593	.	.	.	.	.	.	.	0.018795013	0.00412	T	.	.	.	.	.	.	.	.	.	0.7849080506651781	0.78441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.24192	B	.;.	.;.	2.549379	0.32991	19.21	.	.	.	.	.	.	0.388404	0.46803	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.517000	0.35474	1.275000	0.25315	-0.195000	0.09104	0.956000	0.33378	0.774000	0.26724	0.136000	0.19798	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	3870.55	39	chr10	46461921	.	G	A	3870.55	.	AC=1;AF=0.031;AN=32;BaseQRankSum=0.468;DP=814;ExcessHet=0.0000;FS=2.248;InbreedingCoeff=-0.0079;MLEAC=1;MLEAF=0.031;MQ=37.26;MQRankSum=-2.830e-01;QD=10.87;ReadPosRankSum=1.81;SOR=0.836	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	15	0	1	5
chr10	46549598	46549598	C	T	exonic	GPRIN2	.	nonsynonymous SNV	GPRIN2:NM_001385275:exon3:c.G1139A:p.R380Q	.	.	396	1102	23	1	0	25	0.0112158	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.977	D	0.697	P	0.002	N	0.999	D	2.36	M	1.69	T	-0.942	T	0.113	T	0.605	3.805	19.32	3.74	1.089	3.056	10.96	0.192	0.0142984692189	.	.	.	.	.	.	.	.	.	.	.	.	.	rs150696937	0.0034	0.0068	0.0035	0.0034	0.0095	0.0033	0.0033	0.0075	0.0068	0.0008	0.0026	0.0079	0	0.0009	0.0095	0.0038	0.0038	0.0015	0.0026	0.0049	0.0029	0.0024	0.0038	0.0024	0.0023	0.0034	0.0032	0.0010	0	0.0030	0.0082	0.0004	0.0008	0.0105	0.0038	0.0029	0.0023	0.016	0.51853	D	0.024	0.56640	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.84	0.24656	T	-3.9	0.72932	D	0.212	0.23632	.	.	.	.	.	.	.	0.03615442	0.01899	T	.	.	.	.	.	.	.	.	.	0.5480051513584038	0.54726	.	.	.	.	.	0.064308	0.32400	T	.	.	.	.	.	.	.	.	.	0.832417	0.50060	T	.	.	.	.	.	.	.	.	-5.983	0.46138	T	.	.	0.079	0.08609	B	.;.	.;.	3.526453	0.49461	22.8	.	.	.	.	.	.	0.226162	0.35015	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.414000	0.44281	0.153000	0.15315	0.549000	0.26987	0.991000	0.37257	0.006000	0.19429	0.975000	0.56047	.	.	.	970	0.06235	G protein-regulated inducer of neurite outgrowth, C-terminal;G protein-regulated inducer of neurite outgrowth, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1025.98	266	chr10	46549598	.	C	T	1025.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.75;DP=6433;ExcessHet=0.0000;FS=2.506;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=3.69;ReadPosRankSum=0.018;SOR=0.875	GT:AD:DP:GQ:PL	0/0:322,0:322:99:0,120,1800	20	0	1	0
chr10	46550408	46550408	C	T	exonic	GPRIN2	.	nonsynonymous SNV	GPRIN2:NM_001385275:exon3:c.G329A:p.R110Q	.	.	394	1109	19	0	0	19	0.00849352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.872	P	0.437	B	0.073	N	1.000	N	0.695	N	3.9	T	-0.919	T	0.009	T	0.32	1.423	10.70	1.18	0.131	0.341	7.374	0.052	0.00412282548505	.	.	.	.	.	.	.	.	.	.	.	.	.	rs140015219	0.0051	0.0078	0.0052	0.0051	0.0104	0.0051	0.0050	0.0082	0.0075	0.0009	0.0019	0.0002	2.52e-05	0.0088	0.0104	0.0058	0.0052	0.0013	0.0046	0.0060	0.0047	0.0045	0.0066	0.0043	0.0042	0.0061	0.0059	0.0013	0.0011	0.0049	0.0003	0.0002	0.0101	0.0034	0.0066	0.0047	0.0010	0.244	0.17468	T	0.561	0.09083	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.94	0.03408	T	-0.04	0.07590	N	0.14	0.13911	.	.	.	.	.	.	.	0.009417057	0.00213	T	.	.	.	.	.	.	.	.	.	0.17394575088259248	0.17314	.	.	.	.	.	0.002431	0.01826	T	.	.	.	.	.	.	.	.	.	0.60234	0.22547	T	.	.	.	.	.	.	.	.	-3.686	0.19112	T	.	.	0.079	0.07177	B	.;.	.;.	0.909202	0.12836	9.349	.	.	.	.	.	.	0.056669	0.10495	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.083000	0.11250	-5.714000	0.01621	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.567000	0.30579	.	.	.	970	0.06235	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	651.98	103	chr10	46550408	.	C	T	651.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.77;DP=2627;ExcessHet=0.0000;FS=1.612;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.87;ReadPosRankSum=-3.050e-01;SOR=0.633	GT:AD:DP:GQ:PL	0/0:144,0:144:99:0,120,1800	20	0	1	0
chr10	46550550	46550550	C	T	exonic	GPRIN2	.	nonsynonymous SNV	GPRIN2:NM_001385275:exon3:c.G187A:p.E63K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	0.172	N	1.000	D	.	.	.	.	.	.	.	.	.	10.785	44	4.71	1.492	2.888	12.570	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs143618439	8.63e-05	0.0001	0.0001	6.321e-05	0.0029	7.334e-05	6.914e-05	0.0024	0.0022	0.0029	0.0002	0	0	0	0	3.639e-06	0.0003	4.859e-05	0.0007	0.0009	0.0006	0.0007	0.0024	0.0006	0.0005	0.0020	0.0018	0.0024	0	0.0001	0	0	0	0	0	0	0	0.025	0.47320	D	0.735	0.05072	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.86	0.03624	T	-0.81	0.22294	N	0.395	0.43610	.	.	.	.	.	.	.	0.12284222	0.23310	T	.	.	.	.	.	.	.	.	.	0.37916243631963814	0.37831	.	.	.	.	.	0.012971	0.11307	T	.	.	.	.	.	.	.	.	.	0.552645	0.19087	T	.	.	.	.	.	.	.	.	-4.278	0.27867	T	.	.	0.096	0.15251	B	.;.	.;.	1.954318	0.24822	16.54	.	.	.	.	.	.	0.273616	0.38898	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.069000	0.41106	1.374000	0.25980	0.599000	0.40250	0.131000	0.23362	0.022000	0.20871	0.061000	0.16044	.	.	.	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	418.98	127	chr10	46550550	.	C	T	418.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.560e-01;DP=2411;ExcessHet=0.0000;FS=0.858;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.07;ReadPosRankSum=-3.650e-01;SOR=0.531	GT:AD:DP:GQ:PL	0/0:122,0:122:99:0,120,1800	20	0	1	0
chr10	47322912	47322912	A	G	exonic	GDF2	.	nonsynonymous SNV	GDF2:NM_016204:exon1:c.A244G:p.R82G,	Telangiectasia, hereditary hemorrhagic, type 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1564875	Telangiectasia,_hereditary_hemorrhagic,_type_5	MONDO:MONDO:0014217,MedGen:C3809710,OMIM:615506,Orphanet:774	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.036e-05	4.036e-05	1.633e-05	6.463e-05	0.0006	3.179e-05	2.91e-05	0.0005	0.0004	0	2.236e-05	0	0	3.745e-05	0	0	6.623e-05	0.0006	3.939e-05	4.593e-05	2.569e-05	5.37e-05	0.0012	1.714e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	.	.	.	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.11	0.64445	T	.	.	.	0.216	0.24135	.	.	.	.	.	.	.	0.20616308	0.36869	T	.	.	.	.	.	.	.	.	.	0.8456197630649454	0.84522	.	.	.	.	.	0.583406	0.86393	D	.	.	.	.	.	.	.	.	.	0.814119	0.46793	T	.	.	.	.	.	.	.	.	-4.331	0.28610	T	0.21863469470521835	0.29446	0.087	0.11220	B	.	.	2.511361	0.32436	19.04	.	.	.	.	.	.	0.412796	0.48273	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.584000	0.45768	1.669000	0.27944	0.756000	0.94297	0.667000	0.28322	0.554000	0.25484	0.996000	0.76049	.	.	.	976	0.04745	TGF-beta, propeptide	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1787.98	36	chr10	47322912	.	A	G	1787.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.098e+00;DP=872;ExcessHet=0.0000;FS=0.585;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.11;ReadPosRankSum=0.408;SOR=0.643	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,960	20	0	1	0
chr10	47367976	47367976	C	T	exonic	ZNF488	.	nonsynonymous SNV	ZNF488:NM_153034:exon2:c.G854A:p.R285H	.	.	417	1102	3	0	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.933	P	0.885	P	0.000	N	1.000	D	2.35	M	1.66	T	-0.683	T	0.158	T	0.561	3.246	16.89	2.46	0.318	4.189	9.528	0.192	0.0970192712287	.	.	.	.	.	.	.	.	.	.	.	.	.	rs146643655	0.0004	0.0004	0.0004	0.0004	0.0009	0.0004	0.0004	0.0007	0.0006	2.987e-05	6.708e-05	0	0.0009	0.0034	0	0.0003	0.0006	0.0001	0.0006	0.0006	0.0006	0.0006	0.0012	0.0005	0.0004	0.0005	0.0003	2.41e-05	0	0	0	0.0012	0.0043	0	0.0005	0.0009	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.58	0.53731	T	.	.	.	0.185	0.20129	.	.	.	.	.	.	.	0.07542437	0.11656	T	.	.	.	.	.	.	.	.	.	0.8655305168464783	0.86518	.	.	.	.	.	0.205159	0.56414	T	.	.	.	.	.	.	.	.	.	0.882612	0.60710	D	.	.	.	.	.	.	.	.	-7.095	0.54724	T	.	.	0.079	0.07412	B	.;.	.;.	1.776667	0.22594	15.68	.	.	.	.	.	.	0.588081	0.58549	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.912000	0.48479	-1.498000	0.05304	-0.171000	0.11205	1.000000	0.71638	0.000000	0.08366	0.874000	0.41677	.	.	.	976	0.04745	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1300.98	39	chr10	47367976	.	C	T	1300.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.726;DP=884;ExcessHet=0.0000;FS=3.070;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.03;ReadPosRankSum=-1.059e+00;SOR=0.841	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1384	20	0	1	0
chr10	47368324	47368324	C	T	exonic	ZNF488	.	nonsynonymous SNV	ZNF488:NM_153034:exon2:c.G506A:p.R169Q	.	.	420	1100	2	0	0	2	0.000908265	.	.	2341063	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.304	B	0.069	B	0.900	N	1.000	N	0.55	N	1.89	T	-1.004	T	0.038	T	0.135	2.596	14.64	2.67	0.295	2.262	6.113	0.029	0.00413884682009	.	.	.	.	.	.	.	.	.	.	.	.	.	rs150285927	4.515e-05	4.515e-05	5.853e-05	3.163e-05	0.0005	3.641e-05	3.321e-05	0.0003	0.0002	0.0005	6.708e-05	0	0	0	0.0003	3.687e-05	4.967e-05	1.16e-05	0.0002	0.0002	0.0003	0.0002	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	0	0	0	0	0	8.819e-05	0	0	.	.	.	0.185	0.31936	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.89	0.31470	T	.	.	.	0.047	0.02088	.	.	.	.	.	.	.	0.07232711	0.10781	T	.	.	.	.	.	.	.	.	.	0.31441889553384145	0.31354	.	.	.	.	.	0.006215	0.05647	T	.	.	.	.	.	.	.	.	.	0.620638	0.23867	T	.	.	.	.	.	.	.	.	-4.803	0.34627	T	.	.	0.090	0.12655	B	.;.	.;.	2.011379	0.25557	16.81	.	.	.	.	.	.	0.249174	0.36945	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.386000	0.34025	-0.322000	0.09956	0.596000	0.33519	0.505000	0.26994	0.000000	0.08366	0.464000	0.28207	.	.	.	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2577.98	39	chr10	47368324	.	C	T	2577.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=1017;ExcessHet=0.0000;FS=2.462;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=2.09;SOR=0.566	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	20	0	1	0
chr10	47368618	47368618	C	T	exonic	ZNF488	.	nonsynonymous SNV	ZNF488:NM_153034:exon2:c.G212A:p.S71N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.016	B	0.013	B	0.128	U	1.000	N	0	N	1.96	T	-1.047	T	0.069	T	0.289	0.858	8.471	1.68	0.031	-0.543	5.122	0.023	0.00220714740904	.	.	.	.	.	.	.	.	.	.	.	.	.	rs558580971	4.389e-05	4.447e-05	1.911e-05	6.891e-05	0.0007	3.518e-05	3.201e-05	0.0005	0.0005	0	2.237e-05	0	0	0	0.0002	0	6.629e-05	0.0007	4.594e-05	4.593e-05	2.569e-05	6.71e-05	0.0012	2.107e-05	1.525e-05	0.0005	0.0004	0	0	0	0	0	0	0	1.47e-05	0	0.0012	.	.	.	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.94	0.22678	T	.	.	.	0.087	0.06454	.	.	.	.	.	.	.	0.045495868	0.03627	T	.	.	.	.	.	.	.	.	.	0.5038424353490556	0.50306	.	.	.	.	.	0.004718	0.04133	T	.	.	.	.	.	.	.	.	.	0.253275	0.03871	T	.	.	.	.	.	.	.	.	-5.29	0.39844	T	.	.	0.096	0.15475	B	.	.	-0.453878	0.02019	0.180	.	.	.	.	.	.	0.125781	0.24244	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.767000	0.04826	-1.958000	0.04434	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	976	0.04745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	584.98	39	chr10	47368618	.	C	T	584.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.223;DP=949;ExcessHet=0.0000;FS=0.978;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.00;ReadPosRankSum=-1.149e+00;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:53,0:53:99:.:.:0,120,1800	20	0	1	0
chr10	47468891	47468891	C	G	exonic	ANXA8	.	nonsynonymous SNV	ANXA8:NM_001271703:exon10:c.G754C:p.D252H	.	.	439	1080	3	0	0	3	0.00138696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1337742244	0.0020	0.0021	0.0021	0.0019	0.0157	0.0020	0.0019	0.0146	0.0142	0.0157	0.0075	0.0177	0	0	0.0077	0.0012	0.0047	9.308e-05	0.0059	0.0061	0.0060	0.0057	0.0157	0.0056	0.0054	0.0147	0.0143	0.0157	0	0.0059	0.0199	0	0	0.0034	0.0010	0.0081	0.0002	.	.	.	0.023	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.64	0.04309	T	.	.	.	0.509	0.55540	.	.	.	.	.	.	.	0.025236517	0.00724	T	.	.	.	.	.	.	.	.	.	0.6907784856670935	0.69017	.	.	.	.	.	0.105448	0.44173	T	.	.	.	.	.	.	.	.	.	0.953405	0.84374	D	.	.	.	.	.	.	.	.	-5.384	0.42526	T	.	.	0.447	0.64362	A	.;.;.;.	.;.;.;.	3.639447	0.51593	23.1	.	.	.	.	.	.	0.214345	0.33982	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.093000	0.49912	4.283000	0.42887	0.306000	0.19039	0.989000	0.36753	0.999000	0.35428	0.064000	0.16252	.	.	.	.	.	Annexin repeat, conserved site;Annexin repeat, conserved site;.;Annexin repeat, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1734.98	38	chr10	47468891	.	C	G	1734.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=984;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=51.84;MQRankSum=6.75;QD=7.64;ReadPosRankSum=-1.079e+00;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1223	20	0	1	0
chr10	47502708	47502708	C	T	exonic	AGAP9	.	nonsynonymous SNV	AGAP9:NM_001190810:exon8:c.G1421A:p.R474H,	.	.	415	1085	19	3	0	25	0.0113895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00259585	0.0029	0.0143	0	0	0	0	0	0	0.0005379	14	26028	rs1456306199	0.0011	0.0012	0.0008	0.0014	0.0098	0.0011	0.0011	0.0092	0.0090	0.0001	0.0001	0.0007	5.04e-05	0.0004	0.0090	0.0006	0.0014	0.0098	0.0008	0.0008	0.0006	0.0010	0.0100	0.0007	0.0006	0.0077	0.0069	0.0003	0.0022	6.784e-05	0.0003	0.0002	0.0004	0.0174	0.0006	0.0015	0.0100	0.07	0.35349	T	0.123	0.35582	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	0.42888	T	-3.69	0.70432	D	0.219	0.24510	.	.	.	.	.	.	.	0.011139333	0.00245	T	.	.	.	.	.	.	.	0.341460817117	0.33762	0.04041368958705708	0.03987	.	.	.	.	.	.	.	.	0.0361914	0.56543	T	-0.18579	0.55983	T	.	.	.	0.764624	0.39166	T	.	.	.	.	.	.	.	.	-6.686	0.51705	T	.	.	0.100	0.16973	B	.	.	1.788199	0.22733	15.74	0.72366461872350973	0.09948	0.03806	0.09138	N	AEFI	.	.	.	.	.	.	.	.	.	1.49817134109118E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.277913	0.05378	0	0.101684	0.03063	0	0.0891036	0.20137	0.109	0.109	0.13884	0.984000	0.29163	-0.373000	0.09593	0.148000	0.17689	0.001000	0.13787	0.000000	0.08366	0.063000	0.16184	2.0E-4:0.5106:0.4891:1.0E-4	3.703	0.07919	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4701.11	43	chr10	47502708	.	C	T	4701.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.99;DP=2136;ExcessHet=0.1072;FS=1.841;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=46.62;MQRankSum=4.87;QD=8.13;ReadPosRankSum=-1.101e+00;SOR=0.722	GT:AD:DP:GQ:PL	0/1:197,96:293:99:2248,0,4776	19	0	2	0
chr10	47502771	47502771	T	A	exonic	AGAP9	.	nonsynonymous SNV	AGAP9:NM_001190810:exon8:c.A1358T:p.K453I,	.	.	448	1070	4	0	0	4	0.00186567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1412375757	0.0002	0.0008	0.0001	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	3.047e-05	2.325e-05	0	0.0003	3.837e-05	0.0002	2.578e-05	0.0002	0.0028	0.0002	0.0011	0.0001	0.0003	0.0030	0.0001	0.0001	0.0018	0.0014	5.018e-05	0	0	0	0.0010	9.962e-05	0	0.0001	0	0.0030	0.014	0.53172	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.53	0.14038	T	-6.68	0.92391	D	0.238	0.26837	.	.	.	.	.	.	.	0.15134957	0.28609	T	.	.	.	.	.	.	.	.	.	0.05648739249400953	0.05589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.947805	0.79866	D	.	.	.	.	.	.	.	.	-10.462	0.76628	D	.	.	0.354	0.56851	A	.	.	2.279772	0.29148	18.03	.	.	.	.	.	.	0.235327	0.35795	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.916000	0.48511	2.302000	0.32024	0.161000	0.17719	1.000000	0.71638	0.994000	0.32194	0.009000	0.08673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	76.11	43	chr10	47502771	.	T	A	76.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.112;DP=2031;ExcessHet=0.1072;FS=2.133;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=51.33;MQRankSum=-4.421e+00;QD=0.48;ReadPosRankSum=-2.281e+00;SOR=0.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:259,0:259:99:.:.:0,120,1800	19	0	2	0
chr10	47503383	47503383	C	A	exonic	AGAP9	.	nonsynonymous SNV	AGAP9:NM_001190810:exon8:c.G746T:p.R249L,	.	.	.	.	.	.	.	.	.	.	.	2345041	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1270131442	0.0001	0.0001	0.0001	9.904e-05	0.0043	0.0001	0.0001	0.0037	0.0035	0.0043	0.0002	0	0	0	0	8.094e-06	0.0003	4.639e-05	0.0008	0.0009	0.0008	0.0007	0.0029	0.0007	0.0006	0.0025	0.0023	0.0029	0	0.0001	0	0	0	0	1.477e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.84	0.47477	T	-5.09	0.82961	D	0.292	0.33030	.	.	.	.	.	.	.	0.30863857	0.48358	T	.	.	.	.	.	.	.	0.572725987618	0.56939	0.05929227679349615	0.05869	.	.	.	.	.	.	.	.	-0.0684632	0.41573	T	-0.07644	0.65163	T	.	.	.	0.919108	0.70849	D	.	.	.	.	.	.	.	.	-8.779	0.66263	D	.	.	0.178	0.38818	B	.	.	2.324827	0.29777	18.23	0.7386892031446094	0.10485	0.60823	0.31306	D	AEFI	.	.	.	.	.	.	.	.	.	4.94871900904289E-4	0.07150	0.294411	0.05044	0	0.195528	0.04277	0	0.277913	0.05378	0	0.101684	0.03063	0	0.618206	0.41114	0.109	0.109	0.13884	1.698000	0.37413	-2.785000	0.03363	0.131000	0.17656	1.000000	0.71638	0.000000	0.08366	0.165000	0.20815	0.0:0.9994:0.0:6.0E-4	5.991	0.18695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3296.98	43	chr10	47503383	.	C	A	3296.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.57;DP=1537;ExcessHet=0.0000;FS=0.420;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=32.39;MQRankSum=0.222;QD=11.10;ReadPosRankSum=-6.000e-01;SOR=0.664	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr10	47523435	47523435	A	G	exonic	AGAP9	.	nonsynonymous SNV	AGAP9:NM_001190810:exon1:c.T92C:p.I31T,	.	.	440	1064	17	1	0	19	0.00884956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380521698	0.0019	0.0020	0.0016	0.0022	0.0153	0.0019	0.0018	0.0124	0.0113	0.0002	0.0012	0.0085	0	0.0002	0.0153	0.0013	0.0026	0.0093	0.0015	0.0016	0.0016	0.0014	0.0110	0.0014	0.0013	0.0086	0.0078	0.0002	0	0.0008	0.0076	0.0004	0.0002	0	0.0018	0.0020	0.0110	0.084	0.32929	T	0.045	0.49390	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.49	0.89145	D	-0.84	0.22944	N	0.194	0.21319	.	.	.	.	.	.	.	0.024654835	0.00686	T	.	.	.	.	.	.	.	0.428516003163	0.42472	0.0380011833725335	0.03746	.	.	.	.	.	.	.	.	0.319574	0.84442	D	0.221269	0.84238	D	.	.	.	0.549445	0.18903	T	.	.	.	.	.	.	.	.	-2.87	0.08847	T	.	.	0.257	0.49177	B	.	.	1.104214	0.14890	11.41	0.67376507974388811	0.08336	0.01099	0.04035	N	AEFI	.	.	.	.	.	.	.	.	.	1.09790265576154E-6	0.01202	0.164513	0.03853	0	0.195528	0.04277	0	0.183335	0.04453	0	0.101684	0.03063	0	0.116056	0.24210	1.38	0.143	0.14116	0.355000	0.19902	0.811000	0.21752	0.364000	0.20138	0.110000	0.22992	0.005000	0.19230	0.009000	0.08673	0.7372:0.0:0.2628:0.0	3.227	0.06337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	211.15	26	chr10	47523435	.	A	G	211.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.230e-01;DP=530;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0086;MLEAC=1;MLEAF=0.024;MQ=25.77;MQRankSum=0.560;QD=7.54;ReadPosRankSum=1.13;SOR=0.551	GT:AD:DP:GQ:PL	0/0:23,0:23:60:0,60,900	20	0	1	0
chr10	47760886	47760886	G	A	exonic	LOC102724488;SYT15	.	stopgain	LOC102724488:NM_001370182:exon2:c.C415T:p.R139X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169113542	5.454e-05	6.024e-05	4.519e-05	6.427e-05	0.0002	4.409e-05	4.048e-05	9.023e-05	6.894e-05	0	0	0	2.675e-05	4.688e-05	0.0002	5.201e-05	5.557e-05	0.0002	3.977e-05	3.941e-05	2.591e-05	5.428e-05	0.0002	1.728e-05	1.138e-05	1.975e-05	1.126e-05	0	0	6.579e-05	0	0	0	0	5.892e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.565409	0.11293	N	0.804575	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.111	0.09772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321371	0.84570	D	0.460519	0.93815	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.604192	0.92480	32	0.99817964772427281	0.90150	0.62464	0.31789	D	AEFDGBCI	.	.	.	0.333622219096487	0.57880	3.957403	0.0833270015718179	0.43709	2.667	0.999999804972833	0.74766	0.764865	0.99124	0	0.627178	0.54094	0	0.731555	0.93304	0	0.63947	0.58350	0	.	.	4.37	1.43	0.21585	1.336000	0.33455	2.782000	0.34741	0.359000	0.20063	0.918000	0.31901	0.999000	0.35428	0.211000	0.22211	0.284:0.0:0.716:0.0	8.235	0.30782	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	873.98	43	chr10	47760886	.	G	A	873.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=36.84;MQRankSum=0.193;QD=9.82;ReadPosRankSum=-1.580e-01;SOR=0.678	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1336	20	0	1	0
chr10	47762985	47762985	G	A	exonic	LOC102724488	.	nonsynonymous SNV	LOC102724488:NM_001370182:exon1:c.C20T:p.P7L,	.	.	423	1042	52	5	0	62	0.028891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1274217361	0.0100	0.0090	0.0095	0.0105	0.0352	0.0098	0.0097	0.0339	0.0333	0.0008	0.0039	0.0053	0.0001	0.0027	0.0210	0.0092	0.0095	0.0352	0.0067	0.0068	0.0066	0.0068	0.0332	0.0064	0.0062	0.0290	0.0274	0.0016	0.0197	0.0031	0.0066	0.0008	0.0018	0.0069	0.0098	0.0062	0.0332	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.121	0.11197	-0.9927	0.31906	T	0.027	0.11529	T	5	0.0038524568	0.00073	T	.	.	.	.	.	.	.	0.141422826196	0.13715	.	.	.	.	.	.	.	.	.	.	-0.602763	0.00140	T	-0.619679	0.11211	T	0.00701992962231316	0.00080	T	0.442056	0.12263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.47923	B	.	.	0.550080	0.09184	5.969	0.97470783630290847	0.34136	0.02197	0.06416	N	AEFDBCI	.	.	.	-0.557036156197848	0.20264	1.066943	-0.754943317959088	0.15601	0.8213311	0.999999664354138	0.74766	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	1.65	1.65	0.23015	0.145000	0.15978	-0.515000	0.08723	0.333000	0.19617	0.001000	0.13787	0.000000	0.08366	0.023000	0.12082	0.0:0.0:1.0:0.0	6.756	0.22703	988	0.01987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	119.98	21	chr10	47762985	.	G	A	119.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=588;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=46.89;MQRankSum=-3.802e+00;QD=2.73;ReadPosRankSum=-2.760e-01;SOR=0.849	GT:AD:DP:GQ:PL	0/0:27,0:27:80:0,80,665	20	0	1	0
chr10	47922569	47922569	C	G	exonic	NPY4R;NPY4R2	.	nonsynonymous SNV	NPY4R:NM_001278794:exon2:c.C582G:p.F194L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs555251274	2.436e-05	3.173e-05	1.223e-05	3.641e-05	0.0003	1.689e-05	1.454e-05	0.0002	0.0002	0	0	0	0	0	0	8.052e-06	2.018e-05	0.0003	1.515e-05	1.332e-05	1.458e-05	1.576e-05	0.0006	2.52e-06	9.4e-07	0.0001	4.449e-05	0	0	0	0	0	0	0	0	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	0.000642	0.42656	D	0.246292	0.993942	0.23618	N	.	.	.	.	.	.	.	.	.	.	.	-1.0493	0.14593	T	0.055	0.23262	T	10	0.030801922	0.01209	T	0.00528	0.13494	T	.	.	0.328	0.31196	.	.	0.3235128460203074	0.32264	.	.	0.516212105751	0.41093	T	.	.	.	.	.	.	.	.	.	.	.	.	0.561144	0.19645	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.763	0.75635	P	.;.	.;.	1.279009	0.16785	12.76	0.87577477377801016	0.17328	0.34925	0.25182	N	AEFDBCI	.	.	.	-0.738098937777188	0.14958	0.7496818	-0.655326702754204	0.18082	0.9644082	0.999948946888643	0.47345	0.517182	0.21443	0	0.563428	0.19063	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	4.79	1.06	0.19341	0.953000	0.28759	-0.082000	0.12165	0.298000	0.18894	0.401000	0.26178	0.856000	0.27440	0.920000	0.45560	0.1496:0.2385:0.0:0.6118	3.911	0.08707	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1037.98	35	chr10	47922569	.	C	G	1037.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=6.72;DP=868;ExcessHet=0.0000;FS=3.816;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=29.68;MQRankSum=0.740;QD=8.05;ReadPosRankSum=1.34;SOR=1.355	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,99,1485	20	0	1	0
chr10	48163552	48163552	T	A	exonic	FRMPD2	.	nonsynonymous SNV	FRMPD2:NM_001042512:exon5:c.A690T:p.E230D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.014	B	0.017	B	.	.	1.000	N	0.55	N	3.58	T	-1.040	T	0.098	T	0.132	0.340	5.842	-1.59	-0.551	-0.048	0.907	0.016	.	.	0.000399361	0.0007	0	0	0	0	0	0	0.0161	3.88e-05	6	154602	rs527236490	0.0001	9.039e-05	8.924e-05	0.0001	0.0010	9.194e-05	8.635e-05	0.0008	0.0007	0	0	0	0	0	0	4.936e-05	2.171e-05	0.0010	6.089e-05	5.925e-05	7.925e-05	4.162e-05	0.0009	3.16e-05	2.37e-05	0.0003	0.0002	0	0	6.715e-05	0	0	0	0	5.963e-05	0	0.0009	0.068	0.35726	T	0.151	0.32355	T	0.001	0.07471	B	0.005	0.12992	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	-0.06	0.64264	T	-0.63	0.18459	N	0.07	0.04307	-1.0399	0.17343	T	0.098	0.36651	T	9	0.00519076	0.00113	T	.	.	.	0.016	0.02506	0.12	0.02719	0.206339911435	0.20273	0.14408801365579846	0.14331	1.58527486452	0.88454	0.552466034889	0.46206	T	0.014911	0.12608	T	-0.460519	0.00976	T	-0.536247	0.18666	T	0.0235513781962464	0.01090	T	0.535046	0.17917	T	0.03551511	0.04193	0.04854307	0.07233	0.03551511	0.04193	0.04854307	0.07232	-3.687	0.19127	T	.	.	0.101	0.19235	B	.;.;.	.;.;.	0.356204	0.07293	3.898	0.94297104564700296	0.24603	0.01591	0.05172	N	AEFI	0.049663	0.08602	N	-1.13344821311263	0.06056	0.2777937	-1.17202550774957	0.06381	0.3069543	1.82790937063416E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.75	-1.59	0.08003	-0.105000	0.10876	0.079000	0.14366	-0.137000	0.12594	0.003000	0.16062	0.000000	0.08366	0.129000	0.19529	0.1694:0.3174:0.1738:0.3394	0.907	0.01206	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	380.98	34	chr10	48163552	.	T	A	380.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.000e-01;DP=707;ExcessHet=0.0000;FS=2.031;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=29.63;MQRankSum=-2.360e-01;QD=15.24;ReadPosRankSum=-3.050e-01;SOR=0.352	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1332	20	0	1	0
chr10	48222380	48222380	T	C	exonic	FRMPD2	.	nonsynonymous SNV	FRMPD2:NM_001318191:exon10:c.A1316G:p.N439S	.	.	435	1084	2	1	0	4	0.00184162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	T	0.0	B	0.007	B	.	.	1.000	N	-0.185	N	-0.93	T	-0.992	T	0.142	T	0.085	-0.109	3.467	-0.767	0.055	0.721	9.515	0.121	0.00946327784271	.	.	4.945e-05	0	0	0	0	2.999e-05	0	0.0002	4.53e-05	7	154602	rs780842281	7.319e-05	7.319e-05	7.351e-05	7.288e-05	0.0007	6.181e-05	5.741e-05	0.0002	0.0001	2.987e-05	0	0	0	0	0.0007	7.194e-05	8.279e-05	0.0002	3.942e-05	4.597e-05	5.138e-05	2.69e-05	0.0002	1.715e-05	1.129e-05	1.972e-05	1.124e-05	2.413e-05	0	0	0	0	0	0	5.879e-05	0	0.0002	0.263	0.16412	T	0.37	0.16668	T	0.0	0.02946	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	-0.465	0.02725	N	-0.93	0.75215	T	-2.09	0.48523	N	0.206	0.22870	-0.9923	0.32012	T	0.142	0.46312	T	9	0.046512157	0.03852	T	0.009463	0.24786	T	0.121	0.33580	0.423	0.46693	0.193865811164	0.18958	0.045909296310329493	0.04534	0.0273910062881	0.02796	0.278103411198	0.07229	T	0.026628	0.41215	T	-0.405088	0.02143	T	-0.527508	0.19537	T	0.057010356336832	0.06690	T	0.70293	0.32446	T	0.038397744	0.05108	0.057115074	0.10324	0.038397744	0.05108	0.057115074	0.10324	-5.214	0.39084	T	.	.	0.062	0.01271	B	.;.;.	.;.;.	-0.132710	0.03450	0.637	0.51815145240605143	0.04632	0.49383	0.28421	N	AEFBI	0.061342	0.11720	N	-1.39454719707051	0.02689	0.1190832	-1.30208718458686	0.04404	0.2076239	0.20021193193488	0.18113	0.549168	0.22868	0	0.627178	0.54094	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.4	-0.767	0.10461	0.572000	0.23387	-0.398000	0.09429	-0.717000	0.03845	0.446000	0.26534	0.000000	0.08366	0.006000	0.07323	0.0:0.3859:0.0:0.6141	9.515	0.38263	976	0.04745	FERM central domain|Band 4.1 domain|FERM domain|Band 4.1 domain|FERM central domain;FERM central domain|Band 4.1 domain|FERM domain|Band 4.1 domain|FERM central domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1386.98	33	chr10	48222380	.	T	C	1386.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.95;DP=815;ExcessHet=0.0000;FS=1.419;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.92;ReadPosRankSum=-9.880e-01;SOR=0.818	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1281	20	0	1	0
chr10	48232232	48232232	C	T	exonic	FRMPD2	.	nonsynonymous SNV	FRMPD2:NM_001318191:exon8:c.G979A:p.G327R	.	.	434	1075	13	0	0	13	0.00601017	.	.	2813135	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.993	D	.	.	1.000	D	2.865	M	-1.27	T	0.273	D	0.561	D	0.795	3.403	17.49	4.53	1.299	5.121	12.122	0.653	.	0.0043	0.00219649	0.0056	0.0012	0.0030	0.0001	0.0224	0.0068	0.0022	0.0021	0.0054139	837	154602	rs116143480	0.0054	0.0055	0.0054	0.0055	0.0055	0.0053	0.0053	0.0054	0.0054	0.0007	0.0037	0.0005	0.0001	0.0207	0.0023	0.0055	0.0049	0.0023	0.0055	0.0055	0.0053	0.0057	0.0071	0.0052	0.0050	0.0066	0.0064	0.0012	0	0.0042	0.0003	0.0002	0.0206	0	0.0071	0.0038	0.0021	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.993	0.81110	D	.	.	.	.	0.99992	0.51308	D	3.175	0.88760	M	-1.27	0.79277	T	-6.75	0.92692	D	0.701	0.73105	0.273	0.87114	D	0.561	0.84045	D	9	0.012791216	0.00274	T	.	.	.	0.653	0.86936	0.704	0.84054	0.806080698872	0.80427	0.4573109912437428	0.45649	0.248615505204	0.27425	0.521223545074	0.41798	T	0.312983	0.90840	T	-0.104157	0.35736	T	0.0879978	0.76111	D	0.0714953666646391	0.08859	T	0.886711	0.63001	D	0.4570301	0.64486	0.42942518	0.66625	0.4570301	0.64486	0.42942518	0.66625	-9.197	0.72620	D	.	.	0.435	0.61475	A	.;.;.	.;.;.	3.202208	0.43554	21.8	0.99922589045449228	0.98852	0.94814	0.62421	D	AEFDBI	0.626908	0.60956	D	0.491545953725207	0.66594	4.970481	0.343712138144711	0.58131	3.981804	0.999999998794507	0.74766	0.553676	0.25195	0	0.624146	0.53433	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.44	4.53	0.55009	5.406000	0.66100	2.831000	0.35021	0.599000	0.40250	0.994000	0.38300	0.983000	0.30585	0.044000	0.14658	0.0:0.9161:0.0:0.0839	12.122	0.53196	976	0.04745	FERM, N-terminal|FERM domain|Band 4.1 domain;FERM, N-terminal|FERM domain|Band 4.1 domain;.	.	.	.	.	rs116143480	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2614.11	34	chr10	48232232	.	C	T	2614.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.12;DP=972;ExcessHet=0.1072;FS=9.341;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.92;ReadPosRankSum=1.78;SOR=1.097	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1261	19	0	2	0
chr10	48720123	48720123	C	A	exonic	WDFY4	.	nonsynonymous SNV	WDFY4:NM_001370153:exon3:c.C347A:p.A116E	.	.	408	1108	6	0	0	6	0.00270027	0.7321	0.58	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	0.942	D	2.175	M	3.67	T	-0.402	T	0.281	T	0.615	2.692	14.96	4.67	2.291	4.377	13.441	0.163	0.0946325384853	0.0011	0.00139776	0.0010	0.0005	0.0026	0	0	0.0014	0	0.0010	0.0004528	70	154602	rs147299795	0.0011	0.0011	0.0011	0.0011	0.0048	0.0011	0.0011	0.0042	0.0039	0.0003	0.0032	0.0020	0.0048	2.031e-05	0.0042	0.0010	0.0013	0.0007	0.0013	0.0013	0.0014	0.0012	0.0039	0.0012	0.0011	0.0031	0.0028	0.0006	0	0.0039	0.0035	0.0008	0	0.0068	0.0012	0.0052	0.0012	0.003	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.92359	D	.	.	.	.	0.942398	0.37370	D	2.485	0.72352	M	0.85	0.47130	T	-2.92	0.61129	D	0.566	0.58968	-0.4016	0.71976	T	0.281	0.65239	T	9	0.015261084	0.00320	T	0.094633	0.76286	D	0.163	0.42028	.	.	0.389904358541	0.38601	0.615090305073307	0.61441	.	.	0.463675141335	0.33814	T	0.010874	0.09774	T	-0.319406	0.06946	T	-0.235572	0.51229	T	0.0159957443657134	0.00381	T	0.849215	0.53152	T	0.51478386	0.67958	0.5509516	0.74035	0.51478386	0.67959	0.5509516	0.74036	-2.866	0.08808	T	.	.	0.746	0.74879	P	.;.	.;.	4.474125	0.69744	25.4	0.99228182301914847	0.56120	0.96243	0.68195	D	AEFBI	0.735596	0.68136	D	0.548074212183675	0.69965	5.432627	0.448776685983295	0.64638	4.723634	0.999885728299231	0.44867	0.67177	0.52595	0	0.702456	0.74545	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.67	4.67	0.58089	4.630000	0.60995	7.542000	0.60105	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.090000	0.17789	0.0:1.0:0.0:0.0	13.441	0.60562	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1793.98	43	chr10	48720123	.	C	A	1793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=842;ExcessHet=0.0000;FS=7.781;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=1.05;SOR=0.314	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1240	20	0	1	0
chr10	48743001	48743001	C	T	exonic	WDFY4	.	nonsynonymous SNV	WDFY4:NM_001370153:exon12:c.C1912T:p.R638C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.995	D	0.446	B	.	.	1.000	D	2.045	M	0.55	T	-0.503	T	0.203	T	0.544	4.235	22.0	5.38	2.687	5.278	18.490	0.274	0.0210438739144	.	0.000798722	0.0001	0	0	0.0037	0	0	0.0043	0	8.41e-05	13	154602	rs148252819	0.0002	0.0002	0.0002	0.0002	0.0064	0.0002	0.0002	0.0058	0.0055	0	2.801e-05	0	0.0064	0	0	5.562e-06	0.0006	3.787e-05	0.0002	0.0002	0.0002	0.0003	0.0070	0.0002	0.0002	0.0052	0.0046	0	0	6.539e-05	0	0.0070	0	0	0	0	0	0.0	0.91255	D	0.003	0.76473	D	0.995	0.67487	D	0.446	0.45959	B	.	.	.	.	0.601348	0.32541	D	2.095	0.58118	M	0.55	0.54728	T	-5.58	0.86450	D	0.266	0.30118	-0.5034	0.68527	T	0.203	0.56087	T	8	0.0079832375	0.00181	T	0.021044	0.43757	T	0.274	0.59007	.	.	0.465464902746	0.46175	0.5138848107500441	0.51310	.	.	0.314360737801	0.12566	T	0.240399	0.60871	T	-0.330352	0.06085	T	-0.237909	0.51002	T	0.213245000141729	0.21122	T	0.89891	0.64583	D	0.41952437	0.62060	0.41268754	0.65464	0.41952437	0.62061	0.41268754	0.65464	-7.075	0.54580	T	.	.	0.114	0.22717	B	.	.	4.306019	0.65784	24.9	0.99936301597735078	0.99621	0.92126	0.55002	D	AEFBI	0.595852	0.59024	D	0.53613356060736	0.69242	5.329252	0.572226561163548	0.72955	5.89225	0.999996827438814	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.38	5.38	0.77279	5.296000	0.65493	5.937000	0.51416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.490	0.90792	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1215.98	36	chr10	48743001	.	C	T	1215.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=799;ExcessHet=0.0000;FS=2.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.81;ReadPosRankSum=-2.310e-01;SOR=1.031	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1299	20	0	1	0
chr10	48820289	48820289	G	A	exonic	WDFY4	.	nonsynonymous SNV	WDFY4:NM_020945:exon33:c.G5561A:p.G1854D,	.	.	.	.	.	.	.	.	.	.	.	2390928	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.077	B	0.017	B	0.734	N	1.000	N	1.61	L	0.44	T	-1.005	T	0.121	T	0.39	2.032	12.75	-0.812	0.032	0.011	5.721	0.075	0.0272072974767	.	0.000399361	0.0002	0	0	0.0016	0	0	0	0.0003	3.23e-05	5	154602	rs533520064	5.645e-05	5.472e-05	5.076e-05	6.23e-05	0.0005	4.607e-05	4.264e-05	0.0004	0.0004	0	2.801e-05	0	0.0003	0	0.0004	1.205e-05	0.0001	0.0005	4.597e-05	4.594e-05	5.141e-05	4.028e-05	0.0008	2.108e-05	1.526e-05	0.0003	0.0002	0	0	0	0	0.0006	0	0	0	0	0.0008	0.067	0.35918	T	0.005	0.72224	D	0.006	0.13644	B	0.006	0.12133	B	0.733676	0.06385	N	1.163110	1	0.18198	N	2.35	0.67516	M	0.44	0.56609	T	-1.54	0.37375	N	0.1	0.08227	-1.0050	0.28457	T	0.121	0.42036	T	9	0.011204213	0.00246	T	0.027207	0.50045	D	0.075	0.21907	0.341	0.33302	0.168933306366	0.16529	0.20272514725573718	0.20189	.	.	0.289946258068	0.08914	T	0.004497	0.03907	T	-0.313578	0.07437	T	-0.372053	0.36649	T	0.0241797102727185	0.01168	T	0.517048	0.16713	T	0.06658441	0.14340	0.075429745	0.16604	0.06658441	0.14339	0.075429745	0.16604	-4.294	0.28093	T	.	.	0.075	0.05360	B	.	.	0.395648	0.07671	4.341	0.93212358930051631	0.22885	0.08640	0.14541	N	AEFBCI	0.073925	0.14801	N	-0.891813599388724	0.11035	0.530466	-0.95541914005516	0.10797	0.5461666	0.00254758655338125	0.09519	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.56	-0.812	0.10306	0.066000	0.14358	0.508000	0.19055	0.618000	0.50648	0.043000	0.21118	0.003000	0.18671	0.006000	0.07323	0.3895:0.1371:0.4734:0.0	5.721	0.17256	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	689.98	35	chr10	48820289	.	G	A	689.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.454;DP=797;ExcessHet=0.0000;FS=0.916;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.86;ReadPosRankSum=-4.850e-01;SOR=0.544	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr10	48897552	48897552	G	A	exonic	WDFY4	.	nonsynonymous SNV	WDFY4:NM_020945:exon45:c.G7415A:p.R2472Q,	.	.	422	1076	22	2	0	26	0.0119376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.568	P	0.14	B	0.016	N	1.000	D	1.265	L	0.51	T	-1.100	T	0.065	T	0.265	2.749	15.15	2.06	0.642	0.441	5.360	0.004	.	0.0055	0.00559105	0.0042	0.0123	0.0025	0	0	0.0063	0	0.0010	0.0014683	227	154602	rs114867285	0.0028	0.0027	0.0028	0.0028	0.0346	0.0028	0.0027	0.0306	0.0291	0.0130	0.0080	0.0156	2.798e-05	2.144e-05	0.0346	0.0021	0.0060	0.0014	0.0063	0.0063	0.0058	0.0069	0.0133	0.0060	0.0059	0.0118	0.0113	0.0112	0	0.0133	0.0219	0	9.411e-05	0.0238	0.0027	0.0128	0.0010	0.017	0.51248	D	0.044	0.49663	D	0.568	0.38507	P	0.14	0.33554	B	0.015957	0.28108	N	0.334787	1	0.81001	D	2.045	0.56016	M	0.51	0.55439	T	-1.21	0.30762	N	0.208	0.23125	-1.0999	0.04103	T	0.065	0.26948	T	9	0.0048389435	0.00103	T	.	.	.	0.039	0.10176	.	.	0.238705975628	0.23479	0.33144262079531417	0.33057	.	.	0.25613796711	0.04442	T	0.01525	0.12830	T	-0.453173	0.01082	T	-0.412052	0.31988	T	0.00713104304871222	0.00081	T	0.713829	0.32570	T	0.04787079	0.08254	0.047829837	0.06976	0.04787079	0.08254	0.047829837	0.06976	-4.93	0.36071	T	.	.	0.080	0.07841	B	.	.	2.366957	0.30367	18.41	0.99650189834707581	0.77254	0.15140	0.18764	N	AEFDBCI	0.085209	0.17273	N	-0.462221795726552	0.23326	1.25191	-0.431818342241869	0.24068	1.315994	0.601135840412487	0.21727	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.33	2.06	0.25932	0.378000	0.20298	1.918000	0.29691	-0.106000	0.15538	0.170000	0.23934	0.999000	0.35428	0.835000	0.39381	0.4047:0.0:0.5953:0.0	5.360	0.15385	970	0.06235	PH-BEACH domain|PH-BEACH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1355.98	38	chr10	48897552	.	G	A	1355.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.360;DP=837;ExcessHet=0.0000;FS=4.536;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.706;SOR=0.401	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1246	20	0	1	0
chr10	48970201	48970201	C	T	exonic	WDFY4	.	nonsynonymous SNV	WDFY4:NM_020945:exon57:c.C8840T:p.T2947M,	.	.	412	1097	13	0	0	13	0.00589035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.386	B	0.104	B	0.920	N	1.000	N	0.385	N	1.58	T	-1.037	T	0.013	T	0.406	-0.763	0.779	-10.9	-2.700	-1.589	15.648	0.070	.	0.0046	0.00858626	0.0070	0.0005	0.0025	0.0177	0.0347	0.0085	0.0049	0.0042	0.0023544	364	154602	rs41283303	0.0078	0.0075	0.0078	0.0079	0.0314	0.0077	0.0076	0.0299	0.0293	0.0012	0.0025	0.0012	0.0314	0.0228	0.0019	0.0072	0.0067	0.0041	0.0068	0.0068	0.0063	0.0073	0.0293	0.0064	0.0063	0.0255	0.0241	0.0012	0.0186	0.0018	0.0006	0.0293	0.0190	0	0.0081	0.0057	0.0044	0.469	0.08508	T	0.448	0.13030	T	0.106	0.26037	B	0.022	0.19653	B	0.919896	0.07470	N	1.037450	1	0.08975	N	0.49	0.13296	N	1.58	0.29085	T	-0.12	0.08809	N	0.156	0.16168	-1.0366	0.18357	T	0.013	0.04843	T	9	0.0039949715	0.00077	T	.	.	.	0.070	0.20419	.	.	0.0297737177859	0.01360	0.38725607263372386	0.38640	.	.	0.250243425369	0.03793	T	0.009171	0.08364	T	-0.553891	0.00276	T	-0.551483	0.17184	T	0.0109182422497646	0.00157	T	0.137586	0.01095	T	0.010457726	0.00008	0.023117611	0.00327	0.010457726	0.00008	0.023117611	0.00327	-4.054	0.24609	T	.	.	0.056	0.00496	B	.	.	-1.350813	0.00397	0.008	0.27631161462880305	0.01381	0.03422	0.08551	N	AEFDBCI	0.063476	0.12268	N	-2.04379646653779	0.00170	0.007286304	-2.16560268350352	0.00133	0.005872333	0.995641359668847	0.34242	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.45	-10.9	0.00151	-1.536000	0.02312	-4.302000	0.02229	-2.883000	0.00166	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0883:0.66:0.0:0.2517	15.648	0.76822	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2949.11	35	chr10	48970201	.	C	T	2949.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.18;DP=943;ExcessHet=0.1072;FS=2.034;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.92;ReadPosRankSum=2.20;SOR=0.820	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	19	0	2	0
chr10	48974862	48974862	G	A	exonic	WDFY4	.	nonsynonymous SNV	WDFY4:NM_020945:exon58:c.G8929A:p.A2977T,	.	.	.	.	.	.	.	.	.	0.0386	0.24	2246151	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.503	P	0.159	B	0.148	N	1.000	D	-1.585	N	0.42	T	-1.068	T	0.034	T	0.3	2.127	13.07	3.92	0.799	3.401	11.516	0.091	0.0311192112316	.	.	.	.	.	.	.	.	.	.	.	.	.	rs955810147	1.441e-05	1.368e-05	1.986e-05	8.79e-06	1.773e-05	9.41e-06	7.65e-06	1.134e-05	9.14e-06	0	0	0	0	0	0	1.773e-05	1.738e-05	0	6.571e-06	6.567e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.211	0.19569	T	0.036	0.52060	D	0.503	0.37206	P	0.159	0.34693	B	0.148065	0.18060	N	0.553139	0.992655	0.81001	D	-1.585	0.00443	N	0.42	0.56937	T	-1.85	0.43334	N	0.627	0.64137	-1.0682	0.09813	T	0.034	0.14509	T	9	0.27414423	0.44967	T	0.031119	0.53276	D	0.091	0.26358	0.34	0.33141	0.237489013734	0.23353	0.34708374796770514	0.34622	.	.	0.491460800171	0.37640	T	0.00423	0.03640	T	-0.111817	0.34469	T	-0.398394	0.33571	T	0.809350371360779	0.47000	D	0.860314	0.55333	D	0.051652566	0.09519	0.087973684	0.20483	0.051652566	0.09519	0.087973684	0.20482	-5.747	0.44110	T	.	.	0.117	0.23848	B	.	.	3.723099	0.53211	23.3	0.98700797341069368	0.44910	0.88839	0.48963	D	AEFDBHCI	0.592453	0.58815	D	-0.0664945187507724	0.38869	2.283203	0.0131701636969882	0.40326	2.404807	0.0170295193692235	0.12903	0.67177	0.52595	0	0.702456	0.74545	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.75	3.92	0.44525	3.559000	0.53501	9.904000	0.82373	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.602000	0.31438	0.1433:0.0:0.8567:0.0	11.516	0.49771	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2043.98	40	chr10	48974862	.	G	A	2043.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.09;DP=874;ExcessHet=0.0000;FS=1.367;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.39;ReadPosRankSum=-9.460e-01;SOR=0.832	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1236	20	0	1	0
chr10	48976824	48976824	C	T	exonic	WDFY4	.	nonsynonymous SNV	WDFY4:NM_020945:exon59:c.C9136T:p.H3046Y,	.	.	415	1102	4	1	0	6	0.00271493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	B	0.029	B	0.181	N	0.939	N	1.175	L	1.62	T	-1.031	T	0.094	T	0.498	2.234	13.43	4.7	2.596	1.071	6.293	0.067	0.00906952937368	.	0.000199681	0.0010	0	0.0031	0	0	0	0	0.0055	9.06e-05	14	154602	rs565549386	0.0001	0.0001	8.723e-05	0.0001	0.0011	8.75e-05	8.2e-05	0.0009	0.0009	0	0	0	0	0	0.0007	3.989e-05	0.0002	0.0011	6.565e-05	6.561e-05	5.138e-05	8.057e-05	0.0008	3.514e-05	2.614e-05	0.0003	0.0002	0	0	6.533e-05	0	0	0	0	7.349e-05	0	0.0008	0.839	0.02818	T	0.459	0.12632	T	0.315	0.32886	B	0.029	0.21540	B	0.180735	0.17110	N	0.603511	0.999696	0.26840	N	1.01	0.25309	L	1.62	0.28189	T	0.37	0.03639	N	0.148	0.15046	-1.0309	0.20163	T	0.094	0.35578	T	9	0.007259369	0.00165	T	0.00907	0.23869	T	0.119	0.33137	0.461	0.52916	0.0666544352282	0.05500	0.3636899630063193	0.36282	.	.	0.509078025818	0.40093	T	0.004228	0.03640	T	-0.437543	0.01337	T	-0.436655	0.29183	T	0.0281064409927212	0.01703	T	0.787021	0.42574	T	0.049080648	0.08660	0.05367981	0.09090	0.049080648	0.08659	0.05367981	0.09089	-4.947	0.36259	T	.	.	0.078	0.06756	B	.	.	2.735971	0.35827	20.0	0.82837682433971382	0.14401	0.18694	0.20364	N	AEFDBCI	0.161376	0.28743	N	-0.0352069164638722	0.40265	2.388316	-0.0140503007391816	0.39080	2.311737	0.0414398659266497	0.14484	0.706298	0.61202	0	0.702456	0.74545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.7	4.7	0.58776	0.817000	0.26938	5.890000	0.50749	0.599000	0.40250	0.008000	0.17931	1.000000	0.68203	0.985000	0.61073	0.0:0.7072:0.1912:0.1016	6.293	0.20277	970	0.06235	WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	978.98	33	chr10	48976824	.	C	T	978.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.516e+00;DP=781;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=-3.800e-01;SOR=0.699	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1202	20	0	1	0
chr10	49107954	49107954	C	T	exonic	VSTM4	.	nonsynonymous SNV	VSTM4:NM_001031746:exon2:c.G97A:p.V33M	.	.	429	1080	13	0	0	13	0.00598251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.933	D	0.077	N	0.997	N	1.59	L	-0.22	T	-0.705	T	0.319	T	0.337	3.385	17.42	3.96	2.750	1.187	4.244	0.143	0.0131571431453	0.0011	0.000599042	0.0015	0.0003	0.0004	0	0	0.0019	0.0037	0.0020	0.0010026	155	154602	rs148517338	0.0012	0.0012	0.0012	0.0013	0.0059	0.0012	0.0012	0.0044	0.0038	9.037e-05	0.0006	3.866e-05	2.539e-05	3.79e-05	0.0059	0.0013	0.0016	0.0023	0.0008	0.0008	0.0010	0.0007	0.0015	0.0007	0.0007	0.0013	0.0012	0.0002	0	0.0004	0.0006	0	0	0.0102	0.0015	0.0014	0.0008	0.019	0.53900	D	0.235	0.50226	T	0.999	0.77913	D	0.921	0.66815	D	0.076635	0.21151	N	0.530532	0.996761	0.22909	N	2.175	0.60977	M	-0.22	0.66474	T	-0.61	0.20791	N	0.165	0.23253	-0.7047	0.60212	T	0.319	0.68813	T	10	0.02429533	0.00663	T	0.013157	0.32344	T	0.143	0.38195	.	.	0.677134000145	0.67439	0.5292290068773372	0.52846	0.355680316561	0.37321	0.651309609413	0.60171	T	0.074755	0.35016	T	-0.363331	0.03946	T	-0.307906	0.43882	T	0.0307017693348963	0.02099	T	0.865313	0.57103	D	0.063840926	0.13485	0.07126395	0.15241	0.063840926	0.13484	0.07126395	0.15241	-6.062	0.49899	T	.	.	0.145	0.42706	B	.;.	.;.	4.443698	0.69020	25.3	0.99865748413306032	0.94366	0.26880	0.23119	N	AEFDBI	0.144660	0.26768	N	0.476844006853985	0.65742	4.860716	0.449637236952505	0.64694	4.730462	0.999994314011266	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.615948	0.41167	0	0.620846	0.47308	0	.	.	5.83	3.96	0.45097	1.237000	0.32298	2.637000	0.33729	0.599000	0.40250	0.643000	0.28111	0.993000	0.31925	0.980000	0.58198	0.21:0.6138:0.0:0.1762	4.244	0.10117	.	.	Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1325.11	43	chr10	49107954	.	C	T	1325.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.78;DP=853;ExcessHet=0.1072;FS=0.736;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=0.762;SOR=0.556	GT:AD:DP:GQ:PL	0/1:26,23:49:99:633,0,656	19	0	2	0
chr10	49132145	49132145	C	T	exonic	FAM170B	.	nonsynonymous SNV	FAM170B:NM_001164484:exon2:c.G320A:p.C107Y,	.	.	434	1014	71	3	0	77	0.0365796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.627	P	0.255	B	0.070	N	1.000	N	1.445	L	0.99	T	-1.058	T	0.050	T	0.231	0.232	5.254	0.695	0.271	0.435	1.061	0.056	.	0.0059	0.0325479	0.0536	0.0125	0.0049	0.0033	0	0.0094	0.0309	0.1208	0.0091331	1412	154602	rs41280539	0.0098	0.0094	0.0066	0.0130	0.1154	0.0096	0.0096	0.1134	0.1126	0.0159	0.0063	0.0220	0.0037	0	0.0479	0.0019	0.0137	0.1154	0.0099	0.0099	0.0080	0.0118	0.1161	0.0094	0.0093	0.1082	0.1050	0.0128	0.0329	0.0054	0.0271	0.0015	9.411e-05	0.0238	0.0023	0.0132	0.1161	0.117	0.28271	T	0.183	0.29153	T	0.627	0.40110	P	0.255	0.39216	B	0.070243	0.21551	N	0.438857	1	0.08975	N	1.89	0.50145	L	0.99	0.41750	T	-1.48	0.36189	N	0.078	0.05287	-1.0581	0.12235	T	0.050	0.21456	T	10	0.0017475188	0.00022	T	.	.	.	0.056	0.15993	.	.	.	.	0.36407451914370714	0.36321	.	.	0.465958029032	0.34127	T	0.011081	0.09929	T	-0.607948	0.00130	T	-0.549335	0.17389	T	0.00768038339090971	0.00089	T	0.523848	0.17156	T	0.07181237	0.15928	0.122336216	0.29510	0.07181237	0.15927	0.122336216	0.29509	-3.745	0.19985	T	.	.	0.210	0.43707	B	.	.	1.883759	0.23925	16.20	0.83146344675201278	0.14567	0.04853	0.10588	N	AEFDBCI	0.045601	0.07476	N	-0.557464624572793	0.20250	1.066141	-0.675040824452409	0.17586	0.9357502	0.99684125480696	0.35056	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.12	0.695	0.17231	0.530000	0.22742	0.576000	0.19656	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.327000	0.25133	0.1854:0.4277:0.1803:0.2066	1.061	0.01500	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.04762	2333.11	72	chr10	49132145	.	C	T	2333.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.44;DP=1343;ExcessHet=0.1072;FS=1.612;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.10;ReadPosRankSum=-6.290e-01;SOR=0.572	GT:AD:DP:GQ:PL	0/0:91,0:91:99:0,120,1800	19	0	2	0
chr10	49167001	49167001	A	G	exonic	TMEM273	.	nonsynonymous SNV	TMEM273:NM_001010863:exon3:c.T106C:p.Y36H	.	.	417	1097	8	0	0	8	0.00363306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.009	N	0.672	N	1.04	L	0.19	T	-0.472	T	0.290	T	0.694	2.532	14.43	4.4	1.852	4.113	9.948	0.304	0.0214624748489	8e-05	0.00139776	0.0011	0	0	0	0	0.0003	0.0011	0.0066	0.0009767	151	154602	rs199583022	0.0005	0.0005	0.0003	0.0008	0.0062	0.0005	0.0005	0.0058	0.0056	0	6.708e-05	0.0014	0	3.747e-05	0.0014	0.0001	0.0007	0.0062	0.0004	0.0004	0.0003	0.0005	0.0079	0.0003	0.0003	0.0059	0.0052	0	0	0	0.0012	0	0	0.0034	0.0002	0	0.0079	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.009473	0.30346	N	0.000000	0.671823	0.30357	N	.	.	.	0.11	0.61677	T	-5.0	0.82341	D	0.667	0.80669	-0.4716	0.69669	T	0.290	0.66192	T	10	0.010825038	0.00239	T	0.021462	0.44231	T	0.304	0.62510	.	.	0.564170363345	0.56080	0.227659367843968	0.22680	0.156486346246	0.17663	.	.	.	0.23071	0.59686	T	-0.223307	0.17545	T	-0.0907903	0.64103	T	0.130144280873542	0.15395	T	0.814119	0.47570	T	0.5399818	0.69395	0.6165812	0.77678	0.5399818	0.69396	0.6165812	0.77679	-9.844	0.73256	D	.	.	0.911	0.86137	P	.;.;.;.;.	.;.;.;.;.	3.594779	0.50741	23.0	0.99728549662743327	0.82619	0.89237	0.49581	D	AEFDBCIJ	0.595868	0.59025	D	0.237377923509716	0.53018	3.472727	0.143964371255361	0.46823	2.922082	0.99999999999488	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.615948	0.41167	0	0.586402	0.36253	0	.	.	4.4	4.4	0.52402	3.818000	0.55378	10.702000	0.83594	0.677000	0.82338	0.991000	0.37257	1.000000	0.68203	0.066000	0.16387	1.0:0.0:0.0:0.0	9.948	0.40791	.	.	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	822.98	40	chr10	49167001	.	A	G	822.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.948;DP=801;ExcessHet=0.0000;FS=1.111;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.83;ReadPosRankSum=-2.520e-01;SOR=0.515	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr10	49323866	49323866	T	C	exonic	C10orf71	.	nonsynonymous SNV	C10orf71:NM_001135196:exon3:c.T1321C:p.F441L,	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.999	D	0.002	N	1.000	D	1.995	M	1.76	T	-0.532	T	0.279	T	0.825	4.226	22.0	5.48	2.084	7.228	15.619	0.335	0.0327874610939	0.0003	.	0.0004	0.0001	0	0	0	0.0006	0.0011	0.0002	0.0003169	49	154602	rs373240081	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0002	0.0005	0.0003	0	2.236e-05	0.0059	0	0	0.0010	8.814e-05	0.0005	0.0004	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0001	8.894e-05	0	0	6.575e-05	0.0078	0	0	0	0.0002	0.0010	0.0002	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.001501	0.38855	N	0.000000	1.000	0.50806	D	.	.	.	1.76	0.25996	T	-3.08	0.63323	D	0.764	0.76203	-0.5325	0.67447	T	0.279	0.65099	T	10	0.06548667	0.08841	T	0.032787	0.54518	D	0.335	0.65718	0.109	0.01988	0.582989276457	0.57971	0.34349756402794274	0.34262	0.928783125732	0.71741	.	.	.	.	.	.	-0.0835275	0.39138	T	-0.057434	0.66511	T	0.123920231947768	0.14809	T	0.582242	0.21111	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.978	0.90793	P	.	.	4.364100	0.67135	25.1	0.99902977604519061	0.97426	0.99581	0.97668	D	AEDBI	0.889810	0.82425	D	0.639805947225011	0.75711	6.35444	0.587307496751269	0.74027	6.068118	0.999999884709662	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.48	5.48	0.80675	7.496000	0.80367	5.094000	0.47379	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.772000	0.36596	0.0:0.0:0.0:1.0	15.619	0.76536	894	0.26265	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1705.98	80	chr10	49323866	.	T	C	1705.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.177e+00;DP=1565;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.61;ReadPosRankSum=0.796;SOR=0.656	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	20	0	1	0
chr10	49324926	49324926	G	A	exonic	C10orf71	.	nonsynonymous SNV	C10orf71:NM_001135196:exon3:c.G2381A:p.R794H,	.	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	.	.	.	.	0.682	N	1.000	N	-0.345	N	3.65	T	-0.931	T	0.005	T	0.056	1.182	9.806	-7.76	-1.644	-1.709	3.949	0.008	0.00440731310428	0.0002	0.000399361	4.549e-05	0	0	0	0	0.0001	0	0	1.94e-05	3	154602	rs372978439	1.645e-05	1.779e-05	1.129e-05	2.176e-05	0.0002	1.095e-05	9.15e-06	5.453e-05	3.561e-05	0	0	0	0.0001	0	0.0002	8.348e-06	1.725e-05	8.844e-05	2.626e-05	2.625e-05	1.285e-05	4.028e-05	0.0004	8.14e-06	5.14e-06	6.825e-05	2.856e-05	0	0	0	0	0.0004	0	0	2.94e-05	0	0	0.395	0.10659	T	0.524	0.10317	T	.	.	.	.	.	.	0.682287	0.10248	N	0.788425	1	0.08975	N	.	.	.	3.65	0.04267	T	-0.21	0.10308	N	0.046	0.01825	-0.9311	0.43977	T	0.005	0.01506	T	8	0.02312556	0.00596	T	0.004407	0.10781	T	0.008	0.00669	.	.	0.0986583533028	0.09354	0.07236193870055362	0.07173	0.286467362332	0.31044	.	.	.	.	.	.	-0.510025	0.00502	T	-0.842614	0.01060	T	0.0335283016386267	0.02559	T	0.323368	0.06588	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.01577	B	.	.	-1.507432	0.00290	0.005	0.6879440281471354	0.08769	0.01350	0.04632	N	AEFDGBHCI	0.037616	0.05198	N	-1.39321988041961	0.02701	0.1196433	-1.54512696441429	0.02009	0.09182711	0.999999997982876	0.74766	0.520426	0.21595	0	0.596491	0.49125	0	0.440839	0.06518	1	0.584449	0.35598	0	.	.	5.09	-7.76	0.01094	-1.565000	0.02254	-5.626000	0.01651	-0.975000	0.01921	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2076:0.1033:0.4831:0.206	3.949	0.08856	894	0.26265	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2297.98	112	chr10	49324926	.	G	A	2297.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.448e+00;DP=2712;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.91;ReadPosRankSum=0.528;SOR=0.719	GT:AD:DP:GQ:PL	0/0:144,0:144:99:0,120,1800	20	0	1	0
chr10	49325312	49325312	C	T	exonic	C10orf71	.	nonsynonymous SNV	C10orf71:NM_001135196:exon3:c.C2767T:p.R923W,	.	.	419	1099	4	0	0	4	0.00181653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	.	.	.	.	0.204	N	1.000	N	0.895	L	3.41	T	-0.982	T	0.016	T	0.13	2.052	12.82	-0.486	-0.106	-0.033	1.750	0.022	0.0128581728285	.	.	9.722e-05	0	0	0	0	0	0	0.0003	1.29e-05	2	154602	rs780254333	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0002	0.0008	0.0007	3.165e-05	5.602e-05	3.971e-05	0	0	0.0009	0.0001	0.0002	0.0010	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	9.696e-05	0.0005	0.0004	4.811e-05	0	6.534e-05	0	0	0	0	0.0002	0.0009	0.0012	0.038	0.42783	D	0.028	0.54934	D	.	.	.	.	.	.	0.203970	0.03340	N	2.013780	1	0.08975	N	.	.	.	3.41	0.05574	T	0.26	0.04380	N	0.084	0.06059	-0.9822	0.34491	T	0.016	0.06377	T	8	0.043611765	0.03229	T	0.012858	0.31797	T	0.022	0.04323	.	.	0.278968121808	0.27521	0.0997012842288357	0.09901	0.240276603734	0.26575	.	.	.	.	.	.	-0.582734	0.00185	T	-0.715149	0.05033	T	0.0328096861374012	0.02440	T	0.410359	0.10588	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.07083	B	.	.	1.277595	0.16768	12.75	0.98488241226496265	0.42061	0.09011	0.14850	N	AEFDBI	0.131482	0.25043	N	-0.843378978489118	0.12213	0.5939647	-0.972909578614397	0.10397	0.523344	0.738111527210054	0.23166	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.09	-0.486	0.11462	0.453000	0.21523	0.139000	0.15146	-0.252000	0.07121	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2708:0.3506:0.2346:0.144	1.750	0.02790	894	0.26265	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2741.98	112	chr10	49325312	.	C	T	2741.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.51;DP=2616;ExcessHet=0.0000;FS=2.520;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.58;ReadPosRankSum=0.766;SOR=0.526	GT:AD:DP:GQ:PL	0/0:144,0:144:99:0,120,1800	20	0	1	0
chr10	49461370	49461370	C	A	exonic	ERCC6	.	nonsynonymous SNV	ERCC6:NM_000124:exon19:c.G3965T:p.G1322V	Cerebrooculofacioskeletal syndrome 1, Autosomal recessive;Cockayne syndrome, type B, Autosomal recessive;De Sanctis-Cacchione syndrome, Autosomal recessive;Premature ovarian failure 11, Autosomal dominant;UV-sensitive syndrome 1, Autosomal recessive	.	12	1508	2	0	0	2	0.000662691	.	.	315545	not_provided|Age_related_macular_degeneration_5|Cerebrooculofacioskeletal_syndrome_1|Cockayne_syndrome_type_2	MedGen:C3661900|MONDO:MONDO:0013409,MedGen:C3151063,OMIM:613761|MONDO:MONDO:0008955,MedGen:C0220722,OMIM:214150|MONDO:MONDO:0019570,MedGen:C0751038,OMIM:133540,Orphanet:191,Orphanet:90322	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	0.999	D	0.952	D	.	.	1.000	D	3.155	M	-2.43	D	0.959	D	0.869	D	0.865	4.853	27.7	4.98	2.464	4.717	15.776	0.700	.	.	0.00778754	0.0036	0.0002	8.67e-05	0	0	3.004e-05	0.0033	0.0260	0.0032212	498	154602	rs4253219	0.0014	0.0014	0.0008	0.0020	0.0220	0.0014	0.0013	0.0212	0.0209	5.978e-05	2.236e-05	0	7.557e-05	0	0.0008	4.317e-05	0.0016	0.0220	0.0008	0.0008	0.0004	0.0012	0.0245	0.0007	0.0007	0.0209	0.0195	0.0002	0	6.536e-05	0	0	0	0	2.94e-05	0	0.0245	0.004	0.65419	D	0.026	0.55759	D	0.997	0.70673	D	0.946	0.68276	D	.	.	.	.	1	0.81001	D	2.19	0.61577	M	-2.71	0.90566	D	-4.57	0.78721	D	0.718	0.72031	0.959	0.96532	D	0.869	0.95634	D	9	0.007578075	0.00172	T	.	.	.	0.700	0.89192	0.276	0.22845	0.90946144318	0.90855	0.48409570835901516	0.48329	0.215568380952	0.24085	0.453970432281	0.32487	T	0.504407	0.82350	D	0.0354559	0.56447	T	0.295739	0.88002	D	0.11283294705982	0.13715	T	0.809419	0.45992	T	0.43343338	0.62976	0.337986	0.59582	0.43343338	0.62977	0.337986	0.59581	-2.913	0.09274	T	.	.	0.226	0.45774	B	.	.	4.378322	0.67463	25.1	0.99735534996143227	0.83119	0.98961	0.89215	D	AEFBI	0.504570	0.53608	D	0.675244029376852	0.78010	6.786237	0.550666997114922	0.71445	5.655748	0.992266645553154	0.32778	0.706548	0.73137	0	0.546412	0.12157	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.98	4.98	0.65679	5.028000	0.63895	5.393000	0.48489	0.599000	0.40250	1.000000	0.71638	0.990000	0.31317	0.993000	0.69303	0.0:1.0:0.0:0.0	15.776	0.77995	823	0.40596	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	444.98	34	chr10	49461370	.	C	A	444.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.962;DP=714;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.09;ReadPosRankSum=1.19;SOR=0.486	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1143	20	0	1	0
chr10	49611770	49611770	C	G	exonic	SLC18A3	.	nonsynonymous SNV	SLC18A3:NM_003055:exon1:c.C1030G:p.L344V,	Myasthenic syndrome, congenital, 21, presynaptic, Autosomal recessive	.	423	1092	7	0	0	7	0.00319489	.	.	1550479	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.43	T	0.019	B	0.057	B	0.011	U	1.000	N	0.56	N	0.33	T	-1.024	T	0.109	T	0.093	1.538	11.09	5.16	2.412	1.836	8.630	0.078	0.0140151082925	0.0002	.	0.0002	0	0.0003	0	0	0.0002	0.0011	6.078e-05	0.0001358	21	154602	rs78571038	0.0001	0.0001	0.0001	0.0001	0.0009	0.0001	0.0001	0.0003	0.0002	0	0.0003	0.0041	0	2.337e-05	0.0009	3.148e-05	0.0005	3.478e-05	0.0001	0.0001	0.0002	9.396e-05	0.0001	8.656e-05	7.25e-05	2.257e-05	9.06e-06	0	0	0.0001	0.0037	0	0	0.0068	2.94e-05	0.0005	0	0.394	0.10694	T	0.245	0.24054	T	0.019	0.17989	B	0.057	0.26280	B	0.011500	0.29512	U	0.268590	1	0.81001	D	0.515	0.13537	N	0.33	0.58323	T	-0.41	0.14000	N	0.061	0.03283	-1.0241	0.22377	T	0.109	0.39392	T	10	0.018533707	0.00404	T	0.014015	0.33851	T	0.078	0.22779	.	.	0.464528537357	0.46081	0.5159995734284365	0.51522	.	.	0.640356421471	0.58615	T	0.26173	0.63324	T	-0.41549	0.01829	T	-0.524081	0.19881	T	0.0266450039529982	0.01494	T	0.848015	0.52922	T	0.10263452	0.24253	0.11603332	0.28011	0.10263452	0.24253	0.11603332	0.28011	-4.217	0.26997	T	0.12133854897441868	0.11505	0.077	0.06250	B	.	.	3.106149	0.41883	21.4	0.96586455937655857	0.30355	0.82410	0.41642	D	AEFDGBCI	0.364241	0.45285	N	-0.19354764210071	0.33402	1.894622	0.0136760505467864	0.40348	2.406594	0.9999131878185	0.45857	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	5.16	5.16	0.70563	1.853000	0.38998	7.652000	0.63756	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2619:0.5868:0.1513:0.0	8.630	0.33076	602	0.67834	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2327.98	40	chr10	49611770	.	C	G	2327.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.170e-01;DP=1103;ExcessHet=0.0000;FS=1.216;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.61;ReadPosRankSum=1.01;SOR=0.569	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,107,1266	20	0	1	0
chr10	49612016	49612016	A	G	exonic	SLC18A3	.	nonsynonymous SNV	SLC18A3:NM_003055:exon1:c.A1276G:p.I426V,	Myasthenic syndrome, congenital, 21, presynaptic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	737509	SLC18A3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.24	T	0.977	D	0.773	P	0.000	U	1.000	D	0.695	N	-1.39	T	-0.451	T	0.316	T	0.296	1.787	11.93	3.98	1.928	6.326	10.223	0.418	0.0154850367642	0.0002	0.00139776	0.0006	9.781e-05	8.706e-05	0.0066	0	9.122e-05	0	0.0006	0.0005369	83	154602	rs118107581	0.0005	0.0005	0.0005	0.0005	0.0140	0.0005	0.0004	0.0130	0.0126	5.974e-05	0.0001	0	0.0140	0	0.0003	5.846e-05	0.0003	0.0007	0.0003	0.0003	0.0002	0.0003	0.0052	0.0002	0.0002	0.0037	0.0032	0.0002	0	0.0001	0	0.0052	0	0	5.881e-05	0.0005	0.0004	0.38	0.11191	T	0.779	0.04344	T	0.977	0.58535	D	0.773	0.56974	P	0.000003	0.62929	U	0.059041	1	0.81001	D	0.58	0.15352	N	-1.39	0.80387	T	-0.88	0.23808	N	0.304	0.34336	-0.4506	0.70380	T	0.316	0.68549	T	10	0.013012946	0.00277	T	0.015485	0.36250	T	0.418	0.72780	.	.	0.708386449469	0.70584	0.1755959752554341	0.17478	.	.	0.818039059639	0.84727	D	0.220522	0.58383	T	-0.323961	0.06578	T	-0.235789	0.51209	T	0.0822728689954696	0.10276	T	0.889211	0.62120	D	0.1075223	0.25424	0.121147536	0.29233	0.1075223	0.25423	0.121147536	0.29232	-2.874	0.08886	T	0.2757724791787665	0.37023	0.190	0.40873	B	.	.	4.642279	0.73915	26.1	0.982130852565681	0.39228	0.96335	0.68636	D	AEFDGBCI	0.871742	0.79328	D	0.389166261111909	0.60836	4.276887	0.427257964528688	0.63268	4.557327	0.999994218134128	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	5.11	3.98	0.45383	7.477000	0.80071	9.324000	0.80071	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.9218:0.0:0.0782:0.0	10.223	0.42386	602	0.67834	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1662.98	40	chr10	49612016	.	A	G	1662.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.478e+00;DP=1183;ExcessHet=0.0000;FS=4.388;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.34;ReadPosRankSum=0.501;SOR=1.040	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,107,1266	20	0	1	0
chr10	49646517	49646517	G	A	exonic	CHAT	.	nonsynonymous SNV	CHAT:NM_001142929:exon8:c.G770A:p.R257Q	Myasthenic syndrome, congenital, 6, presynaptic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	638957	Familial_infantile_myasthenia	MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.21	T	0.996	D	0.673	P	0.000	D	1.000	D	1.76	L	-2.37	D	0.365	D	0.695	D	0.88	4.329	22.7	5.16	2.395	9.864	18.645	0.726	0.0657651946888	7.7e-05	0.000199681	0.0003	0	8.646e-05	0	0	0.0002	0	0.0013	0.0002329	36	154602	rs201616704	0.0002	0.0002	0.0001	0.0002	0.0013	0.0002	0.0002	0.0011	0.0011	2.987e-05	0.0001	0.0009	0	1.873e-05	0	9.083e-05	0.0002	0.0013	0.0002	0.0002	0.0001	0.0002	0.0021	0.0001	0.0001	0.0011	0.0009	0	0	0.0003	0.0023	0	0	0	5.88e-05	0	0.0021	0.011	0.55530	D	0.191	0.29056	T	0.996	0.68779	D	0.673	0.53214	P	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.09	0.57893	M	-2.37	0.88220	D	-2.39	0.52612	N	0.905	0.90818	0.365	0.88572	D	0.695	0.89488	D	10	0.3197063	0.49354	T	0.065765	0.69676	D	0.726	0.90369	.	.	0.948794670417	0.94825	0.628631335719009	0.62796	0.52794594921	0.50389	0.692776739597	0.66104	T	0.562543	0.85381	D	0.0809943	0.62157	D	0.303033	0.88337	D	0.102491915225983	0.12629	T	0.940956	0.77922	D	0.6467147	0.75188	0.4950321	0.70796	0.6467147	0.75190	0.4950321	0.70796	-7.716	0.59209	D	0.3344017562579925	0.43235	0.187	0.54536	B	.;.;.;.;.	.;.;.;.;.	5.698848	0.93104	33	0.99877893608160551	0.95491	0.98765	0.86563	D	ALL	0.925855	0.90603	D	0.550526709667843	0.70115	5.454248	0.617340759235211	0.76197	6.447156	1.0	0.98316	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.16	5.16	0.70563	9.998000	0.99325	11.706000	0.94575	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.645	0.91365	590	0.68897	.;.;.;Choline/carnitine acyltransferase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	828.98	33	chr10	49646517	.	G	A	828.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.96;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.87;ReadPosRankSum=-3.800e-01;SOR=0.676	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr10	49915934	49915934	T	C	exonic	PARG	.	nonsynonymous SNV	PARG:NM_001303489:exon4:c.A478G:p.I160V	.	.	440	1079	3	0	0	3	0.00138825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.0	B	0.001	B	.	.	.	.	0.92	L	.	.	-0.988	T	0.036	T	0.04	0.123	4.660	-0.282	0.143	0.660	7.243	0.030	.	0.0035	0.0103834	0.0050	0.0125	0.0211	0.0352	0	0.0008	0.0041	0.0056	0.0016494	255	154602	rs181763230	0.0019	0.0022	0.0018	0.0020	0.0121	0.0018	0.0018	0.0112	0.0108	0.0067	0.0097	4e-05	0.0121	0	0.0014	0.0009	0.0036	0.0057	0.0045	0.0047	0.0046	0.0044	0.0183	0.0042	0.0041	0.0154	0.0143	0.0095	0	0.0052	0	0.0183	0	0	0.0011	0.0033	0.0075	.	.	.	0.563	0.09022	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	0.255	0.09829	N	.	.	.	.	.	.	0.129	0.12341	-0.9879	0.33126	T	0.036	0.15683	T	7	0.0048787296	0.00104	T	.	.	.	0.030	0.07022	.	.	0.198526703765	0.19489	0.0871866914078908	0.08651	.	.	0.410784125328	0.26565	T	0.047027	0.27602	T	-0.671999	0.00054	T	-0.719132	0.04838	T	0.0022736347746104	0.00024	T	0.60234	0.22547	T	0.069567665	0.15253	0.10071888	0.24090	0.069567665	0.15253	0.10071888	0.24090	-3.195	0.12419	T	.	.	0.053	0.00397	B	.;.	.;.	1.168527	0.15580	11.95	0.74243090856865901	0.10623	0.35992	0.25430	N	AEFI	0.072506	0.14472	N	-0.655537293450461	0.17300	0.8889797	-0.540635612336822	0.21054	1.137223	8.93333146305765E-6	0.01202	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.1	-0.282	0.12241	0.527000	0.22695	-0.504000	0.08785	0.650000	0.52971	0.988000	0.36536	0.036000	0.21445	0.996000	0.76049	0.0:0.3698:0.0:0.6302	7.243	0.25281	886	0.28090	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	276.98	44	chr10	49915934	.	T	C	276.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=806;ExcessHet=0.0000;FS=2.356;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.86;MQRankSum=0.702;QD=3.04;ReadPosRankSum=-6.880e-01;SOR=1.172	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1078	20	0	1	0
chr10	49922545	49922545	A	C	splicing	PARG	NM_001303487:exon4:c.1254+2T>G;NM_001303489:exon2:c.336+2T>G;NM_001324381:exon5:c.1332+2T>G;NM_003631:exon5:c.1578+2T>G;NM_001303486:exon5:c.1332+2T>G	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.312	2.515	2.66	1.232	5.612	9.221	.	.	.	.	0.0008	0.0017	0.0027	0.0029	0	9.274e-05	0.0012	0.0009	0.0001921	5	26028	rs2812992	0.0006	0.0010	0.0005	0.0007	0.0070	0.0006	0.0006	0.0063	0.0060	0.0025	0.0021	0	0.0070	0	0.0010	0.0002	0.0014	0.0019	0.0032	0.0045	0.0033	0.0031	0.0127	0.0030	0.0029	0.0102	0.0093	0.0069	0	0.0038	0	0.0127	0	0	0.0008	0.0010	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.085701	0.38783	T	-0.36088	0.37951	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.406188	0.90513	31	0.81101352243070501	0.13520	0.91030	0.52723	D	AEFI	.	.	.	0.602940454492556	0.73360	5.953448	0.290726486738583	0.54998	3.663309	0.00119195103770592	0.08324	0.099367	0.02607	0	0.104858	0.03167	0	0.112256	0.03162	0	0.089874	0.02613	0	0.769956	0.45591	2.66	2.66	0.30672	6.718000	0.74528	11.142000	0.87100	0.684000	0.82519	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	9.221	0.36539	880	0.29376	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	417.98	37	chr10	49922545	.	A	C	417.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.43;DP=944;ExcessHet=0.0000;FS=6.975;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=49.68;MQRankSum=-6.980e+00;QD=1.87;ReadPosRankSum=-2.303e+00;SOR=1.278	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1306	20	0	1	0
chr10	49933321	49933321	C	T	exonic	PARG	.	nonsynonymous SNV	PARG:NM_001303487:exon2:c.G803A:p.R268H	.	.	432	941	149	0	0	149	0.0733629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1243634145	3.406e-05	0.0007	3.32e-05	3.492e-05	0.0003	2.607e-05	2.349e-05	0.0002	0.0001	0.0003	0.0001	0	7.62e-05	3.887e-05	0	2.099e-05	1.678e-05	3.522e-05	0.0006	0.0061	0.0005	0.0007	0.0016	0.0005	0.0004	0.0013	0.0012	0.0016	0	0.0006	0	0	0.0003	0	0.0001	0.0010	0.0002	.	.	.	0.257	0.23231	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.02462	.	.	.	.	.	.	.	0.073026	0.10979	T	.	.	.	.	.	.	.	.	.	0.1798985972631501	0.17908	.	.	.	.	.	0.052451	0.29163	T	.	.	.	.	.	.	.	.	.	0.510149	0.16261	T	.	.	.	.	.	.	.	.	-4.524	0.31201	T	.	.	0.065	0.02038	B	.;.	.;.	0.608126	0.09765	6.533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.518000	0.22554	-2.025000	0.04327	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.570000	0.30651	.	.	.	861	0.33516	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	86.33	35	chr10	49933321	.	C	T	86.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=5.47;DP=1510;ExcessHet=0.0000;FS=50.487;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=52.83;MQRankSum=-7.890e+00;QD=0.44;ReadPosRankSum=-7.380e-01;SOR=7.480	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1328	19	0	1	1
chr10	49934118	49934118	C	T	exonic	PARG	.	nonsynonymous SNV	PARG:NM_001303487:exon2:c.G6A:p.M2I	.	.	440	1078	4	0	0	4	0.00185185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1396857920	0.0005	0.0014	0.0005	0.0005	0.0034	0.0005	0.0005	0.0030	0.0028	0.0017	0.0034	4.271e-05	0.0018	0	0.0002	0.0002	0.0008	0.0011	0.0001	0.0014	0.0001	0.0002	0.0008	9.191e-05	7.74e-05	0.0003	0.0002	0.0002	0	0.0003	0	0.0002	0	0	2.944e-05	0	0.0008	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.441	0.47949	.	.	.	.	.	.	.	0.22694355	0.39561	T	.	.	.	.	.	.	.	.	.	0.3101439808474656	0.30927	.	.	.	.	.	0.195894	0.55211	T	.	.	.	.	.	.	.	.	.	0.823018	0.48339	T	.	.	.	.	.	.	.	.	-2.229	0.04183	T	.	.	0.613	0.69403	P	.;.	.;.	3.980559	0.58511	24.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.837000	0.62487	5.974000	0.52050	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	.	.	.	808	0.43318	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	105.98	35	chr10	49934118	.	C	T	105.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.160e+00;DP=858;ExcessHet=0.0000;FS=5.368;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.07;MQRankSum=-9.812e+00;QD=0.75;ReadPosRankSum=-3.067e+00;SOR=1.410	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1328	20	0	1	0
chr10	49941641	49941641	G	A	exonic	PARG	.	nonsynonymous SNV	PARG:NM_003631:exon1:c.C85T:p.R29W,	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.919e-07	5.472e-06	1.373e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.675e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.51112	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.895	0.22405	L	.	.	.	.	.	.	0.305	0.36254	.	.	.	.	.	.	.	0.13407177	0.25517	T	.	.	.	.	.	.	.	0.453307948783	0.44952	0.3171780186858065	0.31630	.	.	0.799564838409	0.81897	T	0.079441	0.36128	T	0.151388	0.69397	D	-0.0203184	0.69008	D	.	.	.	0.907609	0.67324	D	0.30716577	0.53539	0.33888376	0.59661	0.30716577	0.53539	0.33888376	0.59660	-5.673	0.43452	T	.	.	0.203	0.42777	B	.;.	.;.	4.992573	0.82778	27.9	0.98437734877989025	0.41475	0.53263	0.29329	D	AEFDGBI	.	.	.	.	.	.	.	.	.	0.996420792596447	0.34736	0.164513	0.03853	0	0.097471	0.02872	0	0.183335	0.04453	0	0.101684	0.03063	0	0.307312	0.35014	2.57	2.57	0.29928	5.201000	0.64999	7.455000	0.58998	0.607000	0.46521	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	8.711	0.33546	756	0.51065	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2190.98	41	chr10	49941641	.	G	A	2190.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=874;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=52.42;MQRankSum=0.735;QD=13.61;ReadPosRankSum=-1.354e+00;SOR=0.675	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1088	20	0	1	0
chr10	49941655	49941655	G	T	exonic	PARG	.	nonsynonymous SNV	PARG:NM_001303489:exon1:c.C67A:p.L23M	.	.	422	1096	3	1	0	5	0.00227583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.58613	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.895	0.22405	L	.	.	.	.	.	.	0.428	0.47301	.	.	.	.	.	.	.	0.2555147	0.42945	T	.	.	.	.	.	.	.	0.516437024119	0.51285	0.2592680094765649	0.25840	.	.	0.700207591057	0.67172	T	0.077559	0.35683	T	0.117805	0.66150	D	-0.0685573	0.65728	T	.	.	.	0.69643	0.30590	T	0.17580822	0.38460	0.28754258	0.54766	0.17580822	0.38460	0.28754258	0.54765	-5.3	0.39943	T	.	.	0.214	0.44319	B	.;.	.;.	3.379309	0.46730	22.3	0.96831458917015978	0.31267	0.22870	0.21890	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.998818973699701	0.37733	0.162113	0.03585	0	0.18701	0.04157	0	0.183335	0.04453	0	0.101684	0.03063	0	0.761766	0.45168	2.57	2.57	0.29928	2.384000	0.44017	4.321000	0.42998	0.607000	0.46521	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	10.399	0.43404	756	0.51065	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1220.98	41	chr10	49941655	.	G	T	1220.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.300e-02;DP=807;ExcessHet=0.0000;FS=5.394;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.14;MQRankSum=-7.350e-01;QD=12.99;ReadPosRankSum=0.076;SOR=1.264	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1088	20	0	1	0
chr10	50104143	50104143	G	C	exonic	WASHC2A	.	nonsynonymous SNV	WASHC2A:NM_001005751:exon18:c.G1737C:p.E579D	.	.	.	.	.	.	.	.	.	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.996	D	0.907	P	0.000	D	1.000	D	1.735	L	.	.	-0.695	T	0.262	T	0.334	2.165	13.20	3.2	1.510	3.070	10.264	0.051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0028	0.0005	0.0005	0.0006	0.0004	0.0004	0.0005	0.0005	0.0002	2.474e-05	0.0002	7.586e-05	0	0.0005	0.0006	0.0003	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.37966	T	0.221	0.40110	T	0.99	0.68779	D	0.547	0.64423	P	0.000196	0.48115	D	0.177367	0.999984	0.54805	D	.	.	.	.	.	.	-1.59	0.38345	N	0.186	0.31027	-0.6951	0.60670	T	0.262	0.63350	T	9	0.10016841	0.18224	T	0.007039	0.18649	T	0.051	0.14325	0.155	0.05858	0.043077524339	0.03247	0.022149042639061214	0.02166	.	.	0.526520252228	0.42544	T	0.037049	0.24331	T	-0.02398	0.48284	T	-0.272222	0.47596	T	0.870236992835999	0.52015	D	0.754025	0.40374	T	0.065394446	0.13970	0.08041676	0.18189	0.065394446	0.13970	0.08041676	0.18189	-6.64	0.51357	T	.	.	0.173	0.37914	B	.;.;.;.;.	.;.;.;.;.	5.655948	0.92841	33	0.99770114452793413	0.85834	0.83358	0.42481	D	AEFI	0.285651	0.39823	N	0.0769491637248871	0.45389	2.796276	0.0072360960145605	0.40050	2.384071	7.07449565220211E-5	0.04366	0.706548	0.73137	0	0.670034	0.63936	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	3.2	3.2	0.35826	3.444000	0.52678	8.361000	0.77030	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2778	675.31	121	chr10	50104143	.	G	A,C,T	675.31	.	AC=2,2,1;AF=0.111,0.111,0.056;AN=18;BaseQRankSum=-2.477e+00;DP=1231;ExcessHet=1.3000;FS=169.836;InbreedingCoeff=-0.3611;MLEAC=3,3,2;MLEAF=0.167,0.167,0.111;MQ=56.88;MQRankSum=0.493;QD=1.49;ReadPosRankSum=1.92;SOR=9.720	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:83,0,0,0:83:0:.:.:0,0,1050,0,1050,1050,0,1050,1050,1050	4	0	2	12
chr10	50104143	50104143	G	T	exonic	WASHC2A	.	nonsynonymous SNV	WASHC2A:NM_001005751:exon18:c.G1737T:p.E579D	.	.	.	.	.	.	.	.	.	1.0000	0.992	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.996	D	0.907	P	0.000	D	1.000	D	1.735	L	.	.	-0.695	T	0.262	T	0.334	2.225	13.40	3.2	1.510	3.070	10.264	0.052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.707e-07	6.36e-06	0	1.541e-06	1.03e-06	0	0	.	.	0	0	0	0	0	0	1.03e-06	0	0	0	1.327e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.063	0.37966	T	0.221	0.40110	T	0.99	0.68779	D	0.547	0.64423	P	0.000196	0.48115	D	0.177367	0.999984	0.54805	D	.	.	.	.	.	.	-1.59	0.38345	N	0.186	0.31027	-0.6951	0.60670	T	0.262	0.63350	T	9	0.101569474	0.18565	T	0.007221	0.19143	T	0.052	0.14661	0.155	0.05858	0.043077524339	0.03247	0.022149028868026752	0.02166	.	.	0.526520252228	0.42544	T	0.037049	0.24331	T	-0.0239667	0.48286	T	-0.272203	0.47596	T	0.882602095603943	0.53273	D	0.754025	0.40374	T	0.065394446	0.13970	0.08041676	0.18189	0.065394446	0.13970	0.08041676	0.18189	-6.64	0.51357	T	.	.	0.173	0.37914	B	.;.;.;.;.	.;.;.;.;.	5.651825	0.92816	33	0.99780184817050044	0.86693	0.87410	0.46941	D	AEFI	0.330757	0.43070	N	0.0769491637248871	0.45389	2.796276	0.0072360960145605	0.40050	2.384071	7.07449565220211E-5	0.04366	0.706548	0.73137	0	0.670034	0.63936	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	3.2	3.2	0.35826	3.444000	0.52678	8.361000	0.77030	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2778	675.31	121	chr10	50104143	.	G	A,C,T	675.31	.	AC=2,2,1;AF=0.111,0.111,0.056;AN=18;BaseQRankSum=-2.477e+00;DP=1231;ExcessHet=1.3000;FS=169.836;InbreedingCoeff=-0.3611;MLEAC=3,3,2;MLEAF=0.167,0.167,0.111;MQ=56.88;MQRankSum=0.493;QD=1.49;ReadPosRankSum=1.92;SOR=9.720	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:83,0,0,0:83:0:.:.:0,0,1050,0,1050,1050,0,1050,1050,1050	4	0	2	12
chr10	50104144	50104144	G	C	splicing	WASHC2A	NM_001291398:exon18:c.1737+1G>C;NM_001330102:exon18:c.1737+1G>C;NM_001005751:exon18:c.1737+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.001	9.087	3.2	1.510	4.613	10.264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0025	0.0002	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	9.413e-05	0	0.0001	2.532e-05	1.95e-05	0.0003	0.0003	5.495e-05	6.154e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.00234647	0.51330	T	-0.241147	0.50686	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	5.902203	0.94003	33	0.97352760042827002	0.33529	0.93131	0.57407	D	AEFI	.	.	.	0.701995888035694	0.79764	7.146901	0.445472292793738	0.64426	4.697596	7.07449565220211E-5	0.04366	0.164513	0.03853	0	0.195528	0.04277	0	0.078618	0.02440	0	0.221052	0.04502	0	0.694248	0.42717	3.2	3.2	0.35826	5.024000	0.63865	11.562000	0.93235	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	379.87	78	chr10	50104144	.	G	C,A	379.87	.	AC=2,2;AF=0.071,0.071;AN=28;BaseQRankSum=-2.776e+00;DP=1181;ExcessHet=0.7564;FS=263.402;InbreedingCoeff=-0.2209;MLEAC=3,2;MLEAF=0.107,0.071;MQ=56.92;MQRankSum=0.493;QD=1.07;ReadPosRankSum=0.796;SOR=8.608	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:83,0,0:83:0:.:.:0,0,1050,0,1050,1050	10	0	2	7
chr10	50104144	50104144	G	A	splicing	WASHC2A	NM_001291398:exon18:c.1737+1G>A;NM_001330102:exon18:c.1737+1G>A;NM_001005751:exon18:c.1737+1G>A	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.121	9.572	3.2	1.510	4.613	10.264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0463318	0.57869	T	-0.171224	0.57330	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	5.720867	0.93226	33	0.97432250228662731	0.33931	0.91899	0.54504	D	AEFI	.	.	.	0.701995888035694	0.79764	7.146901	0.445472292793738	0.64426	4.697596	7.07449565220211E-5	0.04366	0.164513	0.03853	0	0.195528	0.04277	0	0.078618	0.02440	0	0.221052	0.04502	0	0.694248	0.42717	3.2	3.2	0.35826	5.024000	0.63865	11.562000	0.93235	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	379.87	78	chr10	50104144	.	G	C,A	379.87	.	AC=2,2;AF=0.071,0.071;AN=28;BaseQRankSum=-2.776e+00;DP=1181;ExcessHet=0.7564;FS=263.402;InbreedingCoeff=-0.2209;MLEAC=3,2;MLEAF=0.107,0.071;MQ=56.92;MQRankSum=0.493;QD=1.07;ReadPosRankSum=0.796;SOR=8.608	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:83,0,0:83:0:.:.:0,0,1050,0,1050,1050	10	0	2	7
chr10	51697904	51697918	TGTATACCTCCTCCT	-	exonic	CSTF2T	.	nonframeshift deletion	CSTF2T:NM_015235:exon1:c.1632_1646del:p.G546_G550del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0038	0.00798722	0.0023	0.0087	0.0004	0.0154	0	0.0002	0	0.0025	0.0002689	7	26028	rs539295286	0.0013	0.0013	0.0013	0.0013	0.0207	0.0013	0.0012	0.0195	0.0191	0.0105	0.0007	3.842e-05	0.0207	0.0002	0.0016	0.0003	0.0017	0.0025	0.0040	0.0040	0.0040	0.0039	0.0178	0.0037	0.0036	0.0149	0.0138	0.0111	0	0.0005	0	0.0178	9.42e-05	0.0136	0.0004	0.0014	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1392.94	36	chr10	51697903	.	CTGTATACCTCCTCCT	C	1392.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.58;ReadPosRankSum=-1.790e-01;SOR=0.624	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1163	20	0	1	0
chr10	52251583	52251583	G	C	exonic	PRKG1	.	nonsynonymous SNV	PRKG1:NM_001098512:exon10:c.G1045C:p.A349P	Aortic aneurysm, familial thoracic 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.167	B	0.077	B	0.000	D	1.000	D	0	N	-0.32	T	-0.933	T	0.162	T	0.522	2.592	14.63	6.14	2.927	7.177	20.414	0.159	0.0119708549921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.023e-05	0.0003	3.282e-05	2.761e-05	3.525e-05	2.291e-05	2.041e-05	2.639e-05	2.317e-05	3.003e-05	0	0	0	0	0	3.525e-05	1.662e-05	3.484e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285	0.15251	T	0.288	0.21144	T	0.167	0.28604	B	0.058	0.28532	B	0.000011	0.62929	D	0.114641	0.999121	0.81001	D	0	0.06538	N	-0.33	0.68329	T	-0.83	0.22727	N	0.414	0.47208	-0.9328	0.43725	T	0.162	0.49831	T	10	0.30753535	0.48255	T	0.011971	0.30115	T	0.159	0.41286	0.321	0.30064	0.324576393752	0.32066	0.9524779227595346	0.95231	0.819110548624	0.67075	0.782701611519	0.79336	T	0.263933	0.63566	T	0.017917	0.54100	T	-0.21204	0.53501	T	0.907704830169678	0.56207	D	0.955504	0.83071	D	0.87653315	0.89385	0.6861728	0.81546	0.87653315	0.89386	0.6861728	0.81547	-7.179	0.55330	T	0.10410051706711128	0.08104	0.857	0.80167	P	.;.;.;.	.;.;.;.	4.002256	0.58976	24.0	0.98901116092730812	0.48181	0.97233	0.73478	D	AEFBI	0.923468	0.89999	D	0.0294236492756106	0.43196	2.617364	0.291304482441213	0.55029	3.666609	0.999999975426614	0.74766	0.693126	0.56070	0	0.547309	0.14657	0	0.659464	0.59346	0	0.620846	0.47308	0	.	.	6.14	6.14	0.99173	7.252000	0.77731	11.902000	0.99384	0.659000	0.54702	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.414	0.99027	870	0.31527	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	90.11	49	chr10	52251583	.	G	C	90.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.860e+00;DP=1271;ExcessHet=0.1072;FS=269.272;InbreedingCoeff=-0.0499;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.43;ReadPosRankSum=1.31;SOR=9.898	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1230	19	0	2	0
chr10	53808927	53808928	TC	-	exonic	PCDH15	.	frameshift deletion	PCDH15:NM_001354411:exon35:c.5116_5117del:p.E1706Kfs*5,	Deafness, autosomal recessive 23, Autosomal recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive;Usher syndrome, type 1F, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.911e-05	0	0	0	0	5.948e-05	0	0.0001	1.94e-05	3	154602	rs775054636	4.945e-06	5.472e-06	1.397e-06	8.575e-06	8.688e-05	2.06e-06	1.32e-06	4.002e-05	2.814e-05	0	0	0	0	0	0	0	0	8.688e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4440.94	36	chr10	53808926	.	TTC	T	4440.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.09;DP=922;ExcessHet=0.0000;FS=1.017;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.48;ReadPosRankSum=0.698;SOR=0.698	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1166	20	0	1	0
chr10	53827437	53827437	-	GGCGGC	exonic	PCDH15	.	nonframeshift insertion	PCDH15:NM_001142765:exon30:c.4109_4110insGCCGCC:p.P1372_G1373insPP	Deafness, autosomal recessive 23, Autosomal recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive;Usher syndrome, type 1F, Autosomal recessive	.	0	1511	10	0	1	11	0.00329815	.	.	614604	not_provided|PCDH15-related_disorder|Usher_syndrome_type_1F|Usher_syndrome_type_1D|Autosomal_recessive_nonsyndromic_hearing_loss_23|not_specified	MedGen:C3661900|.|MONDO:MONDO:0011186,MedGen:C1865885,OMIM:602083,Orphanet:231169,Orphanet:886|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MONDO:MONDO:0012293,MedGen:C1836027,OMIM:609533,Orphanet:90636|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0013	9.962e-05	0.0018	0.0074	0	0.0003	0.0011	0.0032	0.0005379	14	26028	rs559130985	0.0008	0.0008	0.0008	0.0009	0.0059	0.0008	0.0008	0.0053	0.0050	0.0003	0.0012	0.0010	0.0059	1.876e-05	0.0050	0.0005	0.0008	0.0034	0.0007	0.0007	0.0007	0.0007	0.0072	0.0006	0.0006	0.0053	0.0047	0.0003	0	0.0006	0.0012	0.0072	0	0.0068	0.0005	0.0009	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1969.94	37	chr10	53827437	.	A	AGGCGGC	1969.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.540e-01;DP=888;ExcessHet=0.0000;FS=0.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=-2.600e-01;SOR=0.637	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1339	20	0	1	0
chr10	59245065	59245065	A	G	exonic	PHYHIPL	.	nonsynonymous SNV	PHYHIPL:NM_001143774:exon5:c.A527G:p.H176R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.078	B	0.055	B	0.000	D	1.000	D	0.695	N	2.01	T	-1.090	T	0.058	T	0.461	0.272	5.473	5.83	2.225	3.843	16.197	0.061	0.00525626882393	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411557143	4.123e-06	4.104e-06	2.734e-06	5.527e-06	7.063e-05	1.48e-06	9.7e-07	3.033e-05	2.063e-05	0	0	0	0	0	0	0	0	7.063e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.10412	T	0.348	0.17585	T	0.078	0.24389	B	0.035	0.25995	B	0.000020	0.62929	D	0.071300	0.997047	0.43591	D	0.895	0.22405	L	2.01	0.28836	T	-0.38	0.13418	N	0.3	0.33904	-1.0901	0.05515	T	0.058	0.24279	T	10	0.12450966	0.23649	T	0.005256	0.13402	T	0.061	0.17616	0.396	0.42262	0.273938319068	0.27005	0.3816867220209004	0.38083	0.663980762925	0.59045	0.615902483463	0.55148	T	0.025931	0.19295	T	-0.244959	0.14722	T	-0.406252	0.32657	T	0.106550157332041	0.13063	T	0.644935	0.25655	T	0.16839577	0.37294	0.15781565	0.36883	0.16839577	0.37294	0.15781565	0.36882	-3.42	0.15327	T	.	.	0.075	0.06479	B	.;.	.;.	2.634580	0.34271	19.58	0.89811925284541361	0.19122	0.93428	0.58191	D	AEFDBCIJ	0.768471	0.70402	D	-0.0859235919595041	0.38009	2.219733	0.130386794906933	0.46109	2.862491	0.998174489917076	0.36530	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.83	5.83	0.93059	6.262000	0.72476	9.395000	0.80605	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	1.0:0.0:0.0:0.0	16.197	0.81853	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1091.98	33	chr10	59245065	.	A	G	1091.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.209;DP=836;ExcessHet=0.0000;FS=0.643;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.43;ReadPosRankSum=-7.250e-01;SOR=0.608	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1241	20	0	1	0
chr10	59247700	59247700	C	T	exonic	FAM13C	.	nonsynonymous SNV	FAM13C:NM_001001971:exon12:c.G1378A:p.E460K	.	.	435	1077	10	0	0	10	0.00462107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.986	D	0.836	P	0.000	D	1.000	D	2.19	M	0.69	T	-0.551	T	0.262	T	0.939	5.670	36	5.03	2.832	4.657	17.254	0.372	0.00847047838297	0.0018	0.000199681	0.0013	9.61e-05	0.0004	0	0	0.0015	0.0022	0.0028	0.0012484	193	154602	rs150716676	0.0020	0.0020	0.0019	0.0020	0.0057	0.0019	0.0019	0.0042	0.0037	0.0004	0.0005	7.659e-05	0	0.0004	0.0057	0.0021	0.0022	0.0034	0.0012	0.0012	0.0012	0.0012	0.0029	0.0011	0.0010	0.0018	0.0016	0.0004	0	0.0008	0	0	0.0005	0	0.0020	0.0005	0.0029	0.008	0.58626	D	0.004	0.76473	D	0.979	0.61523	D	0.797	0.59919	P	0.000000	0.84330	D	0.000000	0.999768	0.81001	D	2.675	0.78361	M	.	.	.	-3.52	0.68412	D	0.707	0.73826	-0.5512	0.66741	T	0.262	0.63253	T	10	0.04960665	0.04574	T	0.00847	0.22407	T	0.372	0.69102	.	.	0.74503161036	0.74274	0.6266045424087682	0.62593	.	.	0.725683569908	0.70877	T	0.159969	0.50362	T	0.0853968	0.62666	D	0.346212	0.90167	D	0.117631539702415	0.14196	T	0.972403	0.90119	D	0.6654884	0.76192	0.52030736	0.72285	0.6654884	0.76193	0.52030736	0.72286	-10.837	0.80722	D	.	.	0.686	0.72376	P	.;.;.;.;.;.	.;.;.;.;.;.	5.421514	0.90701	31	0.99901960252033972	0.97350	0.95358	0.64409	D	AEFBI	0.814180	0.73647	D	0.729941379179707	0.81597	7.559268	0.731627991716908	0.84779	8.388375	0.999998118423766	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.96	5.03	0.67015	5.841000	0.69123	5.990000	0.52315	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8749:0.1251:0.0	17.254	0.86934	982	0.03397	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1833.98	33	chr10	59247700	.	C	T	1833.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.450e+00;DP=851;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.92;ReadPosRankSum=1.61;SOR=0.704	GT:AD:DP:GQ:PL	0/1:86,82:168:99:1848,0,2178	20	0	1	0
chr10	59252836	59252836	G	A	exonic	FAM13C	.	nonsynonymous SNV	FAM13C:NM_001001971:exon10:c.C1201T:p.P401S	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	T	0.837	P	0.547	P	0.012	N	1.000	N	1.87	L	1.13	T	-1.014	T	0.098	T	0.135	0.100	4.537	3.83	0.857	2.979	4.816	0.073	0.0093158097136	0.0005	0.000599042	0.0002	0.0024	0	0	0	2.998e-05	0	6.058e-05	0.0002005	31	154602	rs147212027	6.978e-05	6.977e-05	7.76e-05	6.188e-05	0.0022	5.847e-05	5.457e-05	0.0018	0.0016	0.0022	0	0	0	0	0.0002	1.079e-05	0.0002	2.319e-05	0.0007	0.0007	0.0008	0.0007	0.0026	0.0006	0.0006	0.0022	0.0020	0.0026	0	0.0003	0	0	0	0	1.47e-05	0.0005	0	0.701	0.13045	T	1.0	0.13441	T	0.532	0.46346	P	0.329	0.49095	B	0.012125	0.29280	N	0.330706	0.949369	0.26539	N	1.265	0.31966	L	1.1	0.39050	T	-1.28	0.32791	N	0.088	0.11054	-1.0137	0.25752	T	0.098	0.36728	T	10	0.00943324	0.00213	T	0.009316	0.24459	T	0.073	0.21317	.	.	0.521601224155	0.51804	0.3841649849249863	0.38331	.	.	0.434346497059	0.29803	T	0.00226	0.01662	T	-0.542829	0.00322	T	-0.55744	0.16618	T	0.0913630694930619	0.11379	T	0.872113	0.58483	D	0.0599291	0.12238	0.0726773	0.15708	0.0599291	0.12237	0.0726773	0.15708	-5.347	0.44382	T	.	.	0.087	0.11172	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.766537	0.36298	20.2	0.47604819320239428	0.03905	0.78740	0.38894	D	AEFBHCI	0.343024	0.43898	N	-0.0952448879789972	0.37601	2.189911	0.0106342874969169	0.40207	2.395921	6.68389668025077E-4	0.07575	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.72	3.83	0.43287	3.201000	0.50761	4.478000	0.43523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0762:0.2569:0.5172:0.1497	4.816	0.12733	982	0.03397	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1967.98	33	chr10	59252836	.	G	A	1967.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.60;DP=845;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.76;ReadPosRankSum=-1.490e+00;SOR=0.712	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	20	0	1	0
chr10	59268689	59268689	G	A	exonic	FAM13C	.	nonsynonymous SNV	FAM13C:NM_001001971:exon8:c.C806T:p.P269L	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.996	D	0.736	P	0.000	N	1.000	D	1.195	L	0.9	T	-0.432	T	0.416	T	0.611	2.563	14.53	6.04	2.876	3.913	20.589	0.223	0.0529523267627	0.0005	0.000599042	0.0004	0.0026	0.0002	0.0006	0	9.203e-05	0	0.0002	0.0003363	52	154602	rs138913406	0.0002	0.0002	0.0002	0.0002	0.0029	0.0002	0.0002	0.0025	0.0023	0.0029	4.486e-05	3.832e-05	0.0007	5.624e-05	0.0002	9.448e-05	0.0003	4.65e-05	0.0010	0.0010	0.0010	0.0010	0.0032	0.0008	0.0008	0.0027	0.0026	0.0032	0	0.0003	0	0.0008	0	0	5.88e-05	0.0005	0	0.226	0.35165	T	0.305	0.30631	T	0.347	0.68779	B	0.083	0.55529	B	0.000133	0.49741	N	0.142017	1	0.81001	D	2.095	0.58118	M	-0.96	0.75553	T	-2.42	0.66325	N	0.198	0.25377	-0.4321	0.70998	T	0.416	0.76258	T	10	0.0141121745	0.00297	T	0.052952	0.65277	D	0.223	0.52023	.	.	0.889652634573	0.88856	0.27321041069273455	0.27234	.	.	0.627196073532	0.56747	T	0.013395	0.11594	T	-0.266275	0.12175	T	-0.157683	0.58559	T	0.0410192205082373	0.03876	T	0.890411	0.62952	D	0.114339165	0.26994	0.15807271	0.36931	0.114339165	0.26994	0.15807271	0.36930	-6.617	0.58262	T	.	.	0.170	0.44910	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.190370	0.43345	21.7	0.95493051256339923	0.27072	0.96900	0.71553	D	AEFBI	0.793428	0.72143	D	0.132628283532413	0.47991	3.017172	0.264161393733811	0.53458	3.514739	0.999999662037672	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.04	6.04	0.98025	2.538000	0.45369	8.503000	0.77365	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.199000	0.21867	0.0:0.0:1.0:0.0	20.589	0.99430	982	0.03397	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1125.98	35	chr10	59268689	.	G	A	1125.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.100e-02;DP=781;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.22;ReadPosRankSum=-6.610e-01;SOR=0.717	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1231	20	0	1	0
chr10	59302818	59302818	G	A	exonic	FAM13C	.	nonsynonymous SNV	FAM13C:NM_001001971:exon5:c.C490T:p.R164W	.	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.979	D	0.431	B	0.661	N	0.996	N	1.1	L	0.88	T	-0.726	T	0.319	T	0.326	2.585	14.60	4.16	2.775	1.716	10.901	0.135	0.0378447709814	.	.	2.472e-05	9.612e-05	0	0	0	2.998e-05	0	0	2.59e-05	4	154602	rs773601984	2.189e-05	2.189e-05	2.042e-05	2.338e-05	0.0003	1.584e-05	1.356e-05	6.092e-05	3.758e-05	0.0001	2.236e-05	0	0	0	0.0003	1.799e-05	3.312e-05	2.319e-05	1.972e-05	1.97e-05	1.285e-05	2.692e-05	7.241e-05	5.24e-06	2.45e-06	1.92e-05	1.032e-05	7.241e-05	0	0	0	0	0	0	0	0	0	0.046	0.46513	D	0.021	0.59159	D	0.927	0.59044	P	0.176	0.45421	B	0.660845	0.10428	N	0.821364	0.996042	0.23130	N	1.1	0.28011	L	-1.13	0.77719	T	-2.3	0.51157	N	0.222	0.26596	-0.7263	0.59150	T	0.319	0.68848	T	10	0.17117465	0.31822	T	0.037845	0.57866	D	0.135	0.36572	0.257	0.19845	0.913672819377	0.91280	0.09344692104870393	0.09276	.	.	0.22662357986	0.01728	T	0.012854	0.11224	T	-0.158369	0.27012	T	-0.283735	0.46421	T	0.212697640061378	0.21094	T	0.887511	0.61533	D	0.10320184	0.24391	0.14658959	0.34723	0.10320184	0.24390	0.14658959	0.34722	-5.451	0.43120	T	.	.	0.079	0.22500	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.536728	0.49653	22.8	0.99527408753339996	0.69653	0.41439	0.26657	N	AEFBI	0.258550	0.37707	N	0.14234741808976	0.48450	3.057134	0.174941821480277	0.48477	3.063186	0.164789928112606	0.17647	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.14	4.16	0.48138	1.799000	0.38459	3.834000	0.40009	0.676000	0.76740	0.422000	0.26346	0.999000	0.35428	0.987000	0.62547	0.0:0.1899:0.8101:0.0	10.901	0.46263	982	0.03397	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2548.08	33	chr10	59302818	.	G	A	2548.08	.	AC=2;AF=0.048;AN=42;DP=846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.07;SOR=1.151	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1208	20	1	0	0
chr10	59327663	59327663	G	A	exonic	FAM13C	.	nonsynonymous SNV	FAM13C:NM_001347850:exon4:c.C10T:p.P4S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.181e-06	.	.	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	57.98	33	chr10	59327663	.	G	A	57.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.359e+00;DP=956;ExcessHet=0.0000;FS=40.084;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.00;ReadPosRankSum=-1.228e+00;SOR=5.419	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,108,1557	20	0	1	0
chr10	60083607	60083607	C	G	exonic	ANK3	.	nonsynonymous SNV	ANK3:NM_001149:exon11:c.G1487C:p.G496A	.	.	452	1065	4	1	0	6	0.00280899	.	.	429103	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.002	N	1.000	D	2.765	M	0.87	T	-0.362	T	0.328	T	0.883	4.945	28.7	5.79	2.733	7.818	20.04	0.538	0.0518948491753	0.0002	0.00119808	0.0012	0.0003	0.0003	0	0	0.0004	0	0.0069	0.001022	158	154602	rs200556767	0.0006	0.0007	0.0004	0.0008	0.0063	0.0006	0.0006	0.0058	0.0056	6.149e-05	0.0003	0.0002	2.534e-05	0	0.0033	0.0003	0.0005	0.0063	0.0004	0.0004	0.0003	0.0005	0.0044	0.0003	0.0003	0.0029	0.0025	9.629e-05	0	6.539e-05	0.0003	0.0004	0	0	0.0004	0.0009	0.0044	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.997	0.86255	D	0.001810	0.37945	N	0.000000	1	0.81001	D	2.74	0.80084	M	0.87	0.46412	T	-6.0	0.89534	D	0.858	0.85449	-0.3620	0.73204	T	0.328	0.69631	T	10	0.017237455	0.00367	T	0.051895	0.64849	D	0.538	0.80664	.	.	0.69041394292	0.68775	0.43922293027066994	0.43839	0.646741209007	0.58081	0.782076954842	0.79241	T	0.870653	0.97203	D	-0.0608426	0.42776	T	0.143274	0.79755	D	0.13357064427927	0.15708	T	0.938006	0.76748	D	0.7937433	0.83509	0.8476577	0.91347	0.7840392	0.82905	0.82843035	0.90083	-13.069	0.89645	D	0.7190347914133446	0.79999	0.743	0.74760	P	.;.;.;.	.;.;.;.	4.769228	0.77191	26.7	0.99777927415775358	0.86519	0.99236	0.93238	D	AEFGBI	0.933180	0.92468	D	0.938452237445583	0.93512	12.08876	0.90962125070518	0.95979	14.170	0.999999999977461	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.79	5.79	0.91751	7.905000	0.86479	5.955000	0.51719	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.04	0.97580	743	0.52768	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	852.98	33	chr10	60083607	.	C	G	852.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.71;DP=749;ExcessHet=0.0000;FS=3.663;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.54;ReadPosRankSum=-1.368e+00;SOR=1.279	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1303	20	0	1	0
chr10	61940328	61940328	A	C	exonic	ARID5B	.	nonsynonymous SNV	ARID5B:NM_032199:exon3:c.A422C:p.E141A,	.	.	426	1076	19	1	0	21	0.00966406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.993	D	0.000	D	1.000	D	1.01	L	0.81	T	-0.673	T	0.218	T	0.706	4.225	22.0	5.7	2.178	8.962	15.958	0.249	0.0241877483772	0.0010	0.000998403	0.0013	0.0002	0.0010	0	0.0008	0.0019	0.0011	0.0005	0.0012742	197	154602	rs150284163	0.0014	0.0014	0.0014	0.0014	0.0036	0.0013	0.0013	0.0024	0.0020	0.0003	0.0008	0.0014	0	0.0006	0.0036	0.0015	0.0019	0.0007	0.0013	0.0013	0.0011	0.0014	0.0020	0.0011	0.0011	0.0015	0.0014	0.0002	0.0121	0.0020	0.0017	0	0.0004	0.0034	0.0017	0.0033	0.0017	0.002	0.72154	D	0.01	0.65728	D	0.988	0.62325	D	0.637	0.51992	P	0.000000	0.84330	D	0.046634	1	0.81001	D	1.655	0.42436	L	0.81	0.48460	T	-1.26	0.31778	N	0.521	0.55106	-0.6732	0.61683	T	0.218	0.58111	T	10	0.009630859	0.00217	T	0.024188	0.47175	T	0.249	0.55752	.	.	0.621581004972	0.61851	0.5057587849629007	0.50497	1.50828235281	0.87183	0.526060581207	0.42479	T	0.30718	0.67934	T	-0.215287	0.18641	T	-0.0888057	0.64252	T	0.0373188578005179	0.03212	T	0.873813	0.58316	D	0.38897392	0.59958	0.27519768	0.53454	0.38897392	0.59959	0.27519768	0.53453	-4.767	0.34204	T	.	.	0.139	0.30344	B	.;.	.;.	4.085513	0.60807	24.3	0.99611039877335594	0.74813	0.96869	0.71382	D	AEFGBHCI	0.869391	0.78991	D	0.664852938671506	0.77332	6.654662	0.712687126997063	0.83343	7.996649	0.999999999999955	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.547309	0.15389	0	0.620204	0.46100	0	.	.	5.7	5.7	0.88690	8.947000	0.92735	11.269000	0.91340	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.958	0.79691	767	0.49651	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1265.98	34	chr10	61940328	.	A	C	1265.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.206;DP=767;ExcessHet=0.0000;FS=0.945;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.11;ReadPosRankSum=-2.290e-01;SOR=0.907	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1331	20	0	1	0
chr10	62092026	62092026	A	G	exonic	ARID5B	.	nonsynonymous SNV	ARID5B:NM_001244638:exon7:c.A1834G:p.K612E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.996	D	0.824	P	0.000	D	1.000	D	2.015	M	0.62	T	-0.479	T	0.286	T	0.758	3.951	20.2	5.87	2.242	6.933	16.267	0.224	0.025201806398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.145	0.37872	T	0.996	0.68779	D	0.824	0.59271	P	0.000001	0.62929	D	0.103999	0.999861	0.50061	D	1.955	0.52871	M	0.62	0.54149	T	-0.65	0.18877	N	0.529	0.73375	-0.4788	0.69410	T	0.286	0.65802	T	10	0.44636667	0.58422	T	0.025202	0.48177	D	0.224	0.52174	0.122	0.02867	0.590931333426	0.58769	0.221919091151386	0.22106	1.20430854673	0.80639	0.44478982687	0.31232	T	0.213771	0.57518	T	0.121558	0.66528	D	-0.0631661	0.66111	T	0.735250152822571	0.42483	D	0.90081	0.65538	D	0.42721224	0.62569	0.42701653	0.66460	0.42721224	0.62570	0.42701653	0.66460	-5.011	0.38065	T	.	.	0.418	0.61988	A	.;.	.;.	4.022187	0.59410	24.1	0.99833645612531696	0.91542	0.86123	0.45345	D	AEFBCI	0.661142	0.63147	D	0.720519980594005	0.80978	7.415647	0.728692232329072	0.84556	8.325322	0.999999992494279	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	5.87	5.87	0.94266	6.941000	0.75731	11.299000	0.92274	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	1.0:0.0:0.0:0.0	16.267	0.82423	717	0.55835	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2936.98	35	chr10	62092026	.	A	G	2936.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.090e-01;DP=884;ExcessHet=0.0000;FS=0.538;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.38;ReadPosRankSum=0.129;SOR=0.757	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1073	20	0	1	0
chr10	62198228	62198228	C	G	exonic	RTKN2	.	nonsynonymous SNV	RTKN2:NM_145307:exon12:c.G1510C:p.A504P,	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.982	D	0.000	D	1.000	D	1.935	M	0.82	T	-0.619	T	0.290	T	0.752	3.346	17.27	5.61	2.657	6.639	19.638	0.118	0.0404653447612	7.7e-05	.	4.121e-05	0	8.648e-05	0	0	2.998e-05	0	0.0001	6.47e-05	10	154602	rs373658076	5.063e-05	5.062e-05	4.356e-05	5.776e-05	0.0019	4.126e-05	3.778e-05	0.0011	0.0008	0	0.0001	0	0	0	0.0019	3.777e-05	0.0002	5.797e-05	2.63e-05	2.627e-05	5.141e-05	0	6.557e-05	8.15e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.557e-05	0	0	0	0	4.41e-05	0	0	0.007	0.59928	D	0.017	0.60337	D	1.0	0.90584	D	0.982	0.75477	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.7	0.79018	M	0.82	0.48142	T	-1.49	0.36385	N	0.572	0.59478	-0.6186	0.64047	T	0.290	0.66192	T	10	0.5284579	0.63045	D	0.040465	0.59392	D	0.118	0.32913	.	.	0.51759925163	0.51402	0.5848206073505431	0.58412	0.310517131312	0.33367	0.42225933075	0.28148	T	0.009671	0.08788	T	-0.0528891	0.44008	T	-0.0880462	0.64309	T	0.250930665977587	0.22914	T	0.864413	0.56163	D	0.44677994	0.63837	0.515742	0.72020	0.44677994	0.63838	0.515742	0.72020	-7.393	0.56855	T	.	.	0.199	0.42215	B	.	.	4.347052	0.66733	25.0	0.99734215990573694	0.82975	0.99410	0.95673	D	AEFBI	0.866023	0.78532	D	0.699181838466164	0.79577	7.107494	0.669973082536023	0.80106	7.225582	0.999999999922936	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	5.61	5.61	0.85347	7.022000	0.76169	6.030000	0.52909	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.803000	0.37862	0.0:1.0:0.0:0.0	19.638	0.95739	766	0.49742	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2707.98	38	chr10	62198228	.	C	G	2707.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.655e+00;DP=879;ExcessHet=0.0000;FS=3.338;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=-1.570e-01;SOR=0.486	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1118	20	0	1	0
chr10	63189343	63189343	T	A	exonic	JMJD1C	.	nonsynonymous SNV	JMJD1C:NM_001322254:exon16:c.A5738T:p.K1913I	.	.	423	1097	2	0	0	2	0.000910747	.	.	564637	Early_myoclonic_encephalopathy|Hepatoblastoma	MONDO:MONDO:0016022,MedGen:C0270855,Orphanet:1935|Human_Phenotype_Ontology:HP:0002884,MONDO:MONDO:0018666,MedGen:C0206624,Orphanet:449	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.987	D	0.794	P	0.000	D	1.000	D	2.24	M	0.72	T	-0.338	T	0.374	T	0.438	4.382	23.2	5.47	2.201	4.572	15.509	0.156	0.09126481167	0.0009	0.000199681	0.0011	0.0002	0.0005	0	0	0.0016	0.0011	0.0012	0.001119	173	154602	rs200769337	0.0011	0.0011	0.0011	0.0011	0.0022	0.0011	0.0011	0.0020	0.0019	0.0001	0.0005	7.656e-05	0	0.0004	0.0003	0.0012	0.0007	0.0022	0.0007	0.0007	0.0006	0.0008	0.0019	0.0006	0.0006	0.0010	0.0009	0.0002	0	0.0005	0	0	0.0002	0	0.0012	0.0009	0.0019	0.001	0.78490	D	0.005	0.72224	D	0.987	0.61912	D	0.794	0.57880	P	0.000000	0.84330	D	0.047074	0.999987	0.81001	D	2.215	0.62545	M	0.72	0.50976	T	-3.86	0.72471	D	0.353	0.48596	-0.3383	0.73893	T	0.374	0.73265	T	10	0.022912264	0.00585	T	0.091265	0.75675	D	0.196	0.47777	.	.	0.329044607051	0.32520	0.7494538752007713	0.74892	0.660587914024	0.58878	0.475487887859	0.35437	T	0.232289	0.59882	T	-0.335983	0.05672	T	-0.261869	0.48638	T	0.0827588364481926	0.10337	T	0.885811	0.61165	D	0.5848764	0.71874	0.46306205	0.68828	0.5848764	0.71875	0.46306205	0.68828	-5.469	0.41578	T	0.7351534073806982	0.81699	0.227	0.50636	B	.;.;.	.;.;.	4.457039	0.69330	25.4	0.99401105637794296	0.62794	0.99475	0.96487	D	AEFBI	0.609804	0.59887	D	0.382135905419247	0.60453	4.23449	0.431817841560252	0.63557	4.59192	0.999994045243088	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	4.394000	0.59433	2.248000	0.31665	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.0:0.0:0.0:1.0	15.509	0.75497	600	0.68026	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2734.98	34	chr10	63189343	.	T	A	2734.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.648e+00;DP=912;ExcessHet=0.0000;FS=0.495;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.43;ReadPosRankSum=-6.350e-01;SOR=0.636	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr10	67097639	67097639	T	G	exonic	LRRTM3	.	nonsynonymous SNV	LRRTM3:NM_178011:exon3:c.T1589G:p.I530R,	.	.	428	1086	7	1	0	9	0.00412655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.937	P	0.307	B	0.000	D	1.000	D	0.55	N	-1.05	T	-0.937	T	0.012	T	0.898	3.053	16.19	5.92	2.277	5.505	13.901	0.472	.	0.0009	0.0327476	0.0203	0.0018	0.0981	0.1200	0	0.0006	0.0166	0.0136	0.018415	2847	154602	rs75363119	0.0071	0.0071	0.0073	0.0069	0.1158	0.0070	0.0069	0.1130	0.1119	0.0011	0.0817	0.0016	0.1158	5.616e-05	0.0014	0.0002	0.0103	0.0138	0.0090	0.0091	0.0083	0.0098	0.1155	0.0086	0.0085	0.1078	0.1048	0.0022	0	0.0364	0.0017	0.1155	0	0	0.0003	0.0095	0.0172	0.001	0.78490	D	0.002	0.79402	D	0.937	0.52445	P	0.307	0.41295	B	0.000041	0.53742	D	0.000000	1	0.81001	D	0	0.06538	N	-1.05	0.76690	T	-0.64	0.18670	N	0.196	0.21580	-0.9372	0.43057	T	0.012	0.04416	T	10	0.0018042326	0.00024	T	.	.	.	0.472	0.76554	.	.	.	.	0.7003064853888085	0.69971	1.39225362655	0.85025	0.670892000198	0.62964	T	0.021226	0.16569	T	-0.0789228	0.39890	T	0.210573	0.83695	D	0.0332838065825495	0.02518	T	0.79842	0.44325	T	0.35678914	0.57591	0.49094325	0.70551	0.35678914	0.57591	0.49094325	0.70551	-3.117	0.11492	T	.	.	0.160	0.35267	B	.	.	3.855411	0.55878	23.7	0.98582945724144566	0.43271	0.94067	0.60012	D	AEFI	0.758560	0.69717	D	0.368239245615258	0.59710	4.152596	0.486632657040499	0.67105	5.039483	0.342021633387265	0.19594	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.92	5.92	0.95557	5.506000	0.66713	7.932000	0.75071	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.901	0.63310	962	0.08456	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1827.98	35	chr10	67097639	.	T	G	1827.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.96;DP=870;ExcessHet=0.0000;FS=0.560;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.04;ReadPosRankSum=0.884;SOR=0.612	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1272	20	0	1	0
chr10	67922984	67922984	G	A	exonic	HERC4	.	nonsynonymous SNV	HERC4:NM_001278186:exon23:c.C2332T:p.R778C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.306	B	0.112	B	0.000	D	1.000	D	3.075	M	0.24	T	-0.468	T	0.272	T	0.484	2.104	12.99	5.49	2.733	2.831	14.493	0.345	0.0310287728182	0.0004	0.000199681	9.904e-05	0.0009	0	0.0001	0	3.002e-05	0	0	8.41e-05	13	154602	rs200134764	8.69e-05	8.756e-05	9.668e-05	7.702e-05	0.0011	7.423e-05	6.971e-05	0.0008	0.0007	0.0011	4.473e-05	0	0.0002	0	0	6.297e-05	0.0001	3.479e-05	0.0003	0.0003	0.0003	0.0004	0.0010	0.0002	0.0002	0.0007	0.0007	0.0010	0	6.539e-05	0	0.0002	0	0	5.88e-05	0.0005	0	0.008	0.58626	D	0.005	0.74150	D	0.261	0.32693	B	0.073	0.31615	B	0.000132	0.49741	D	0.181219	0.999999	0.58761	D	2.9	0.83903	M	0.24	0.59583	T	-5.44	0.85397	D	0.244	0.34981	-0.4676	0.69809	T	0.272	0.64391	T	10	0.08995542	0.15630	T	0.031029	0.53207	D	0.345	0.66676	.	.	0.41495530826	0.41114	0.7407136888186333	0.74016	1.10321080165	0.77791	0.480778992176	0.36164	T	0.389231	0.74971	T	-0.265162	0.12302	T	-0.210011	0.53696	T	0.180975981011275	0.19296	T	0.90401	0.66351	D	0.2449168	0.47445	0.29574567	0.55607	0.2449168	0.47445	0.29574567	0.55606	-9.072	0.69739	D	.	.	0.093	0.43269	B	.;.;.;.	.;.;.;.	4.536423	0.71268	25.6	0.98955379795299481	0.49227	0.91495	0.53651	D	AEFGBI	0.420283	0.48717	N	0.310556675301073	0.56689	3.834128	0.404039225498257	0.61817	4.387171	0.996474270804271	0.34770	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.49	5.49	0.81022	2.880000	0.48228	8.600000	0.77723	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8184:0.1815	14.493	0.67244	913	0.21160	.;.;HECT domain|HECT domain|HECT domain|HECT domain;HECT domain|HECT domain|HECT domain|HECT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	370.98	71	chr10	67922984	.	G	A	370.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.360e-01;DP=767;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.23;ReadPosRankSum=0.233;SOR=0.807	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1146	20	0	1	0
chr10	68174328	68174328	A	G	exonic	MYPN	.	nonsynonymous SNV	MYPN:NM_032578:exon11:c.A2236G:p.T746A	Cardiomyopathy, dilated, 1KK, Autosomal dominant;Cardiomyopathy, familial restrictive, 4, Autosomal dominant;Cardiomyopathy, hypertrophic, 22, Autosomal dominant;Nemaline myopathy 11, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	198272	MYPN-related_disorder|See_cases|not_provided|Cardiovascular_phenotype|Dilated_cardiomyopathy_1KK|not_specified	.|.|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0014100,MedGen:C3714995,OMIM:615248,Orphanet:154,Orphanet:75249|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.228	B	0.085	B	0.000	D	1.000	N	1.245	L	0.44	T	-0.999	T	0.081	T	0.413	2.367	13.87	4.58	2.195	0.734	8.798	0.065	0.00979998013953	0.0025	0.00159744	0.0007	0.0072	8.639e-05	0.0001	0	0	0.0011	6.056e-05	0.0005821	90	154602	rs147287437	0.0002	0.0002	0.0002	0.0002	0.0064	0.0002	0.0002	0.0057	0.0054	0.0064	0.0004	0	2.519e-05	0	0.0003	1.799e-06	0.0004	4.637e-05	0.0021	0.0021	0.0023	0.0018	0.0074	0.0019	0.0018	0.0067	0.0064	0.0074	0	0.0003	0	0	0	0	2.94e-05	0.0014	0	0.059	0.37536	T	0.412	0.21078	T	0.172	0.30509	B	0.039	0.29395	B	0.000115	0.50451	D	0.171275	0.66774	0.30392	N	1.87	0.49600	L	0.42	0.57261	T	-0.55	0.18877	N	0.067	0.04307	-0.9986	0.30311	T	0.081	0.32031	T	9	0.0039547086	0.00076	T	0.010	0.25563	T	0.065	0.18881	.	.	0.606901216843	0.60375	0.22397987137468223	0.22312	0.132354087043	0.14917	0.399781763554	0.25039	T	0.034032	0.23157	T	-0.40696	0.02083	T	-0.35236	0.38933	T	0.0153948718846903	0.00344	T	0.616438	0.23595	T	0.07058562	0.15560	0.097099595	0.23099	0.064791076	0.13783	0.07612163	0.16827	-4.715	0.33585	T	.	.	0.116	0.46366	B	.;.;.;.	.;.;.;.	2.084045	0.26508	17.14	0.98832265727868795	0.46969	0.73997	0.36194	D	AEFBHCI	0.326994	0.42809	N	-0.168678792179139	0.34443	1.96602	-0.0305096848699544	0.38344	2.257722	0.788028471774978	0.23965	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.76	4.58	0.56077	0.767000	0.26238	3.774000	0.39765	0.756000	0.94297	0.008000	0.17931	1.000000	0.68203	0.919000	0.45453	0.7423:0.1318:0.0:0.126	8.798	0.34049	930	0.16408	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	2071.98	33	chr10	68174328	.	A	G	2071.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.823e+00;DP=2167;ExcessHet=0.0000;FS=1.939;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=0.594;SOR=0.864	GT:AD:DP:GQ:PL	0/0:162,0:162:99:0,120,1800	20	0	1	0
chr10	68210454	68210454	A	C	exonic	MYPN	.	stoploss	MYPN:NM_032578:exon20:c.A3962C:p.X1321S	Cardiomyopathy, dilated, 1KK, Autosomal dominant;Cardiomyopathy, familial restrictive, 4, Autosomal dominant;Cardiomyopathy, hypertrophic, 22, Autosomal dominant;Nemaline myopathy 11, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	2.777	15.25	3.83	0.551	2.871	8.588	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.04	0.01347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.103228	0.35891	T	-0.386056	0.35012	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	1.209421	0.16023	12.26	0.7840277042299737	0.12285	0.97469	0.74950	D	AEFDBI	.	.	.	0.655956795770014	0.76756	6.545332	0.484648360778992	0.66972	5.02221	0.551124795103293	0.21335	0.06567	0.01388	0	0.060609	0.00678	0	0.060301	0.00762	0	0.075334	0.01956	0	0.288269	0.34340	6.16	3.83	0.43287	2.960000	0.48853	4.126000	0.42002	-0.065000	0.16512	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.7736:0.0:0.2264:0.0	8.588	0.32827	929	0.16858	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03333	113.52	39	chr10	68210454	.	A	C	113.52	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-2.987e+00;DP=988;ExcessHet=0.0000;FS=126.767;InbreedingCoeff=-0.1086;MLEAC=1;MLEAF=0.033;MQ=60.00;MQRankSum=0.00;QD=1.32;ReadPosRankSum=2.07;SOR=5.666	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:46,0:46:0:.:.:0,0,1257	14	0	1	6
chr10	68431878	68431878	G	A	exonic	DNA2	.	nonsynonymous SNV	DNA2:NM_001080449:exon13:c.C1967T:p.T656I,	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	1.0	D	0.000	D	1.000	D	2.735	M	0.22	T	0.618	D	0.759	D	0.926	5.171	32	5.62	2.656	9.622	19.714	0.812	0.193114371301	.	.	8.284e-06	0	0	0	0	0	0	6.064e-05	6.5e-06	1	154602	rs777761639	9.596e-06	9.577e-06	6.82e-06	1.24e-05	0.0002	5.57e-06	4.36e-06	9.83e-05	7.869e-05	0	0	0	0	0	0	0	0	0.0002	1.314e-05	1.313e-05	0	2.69e-05	0.0004	2.18e-06	8.2e-07	7.282e-05	3.026e-05	0	0	0	0	0	0	0	0	0	0.0004	0.003	0.91255	D	0.002	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.2	0.62015	M	-1.8	0.83893	D	-4.36	0.84601	D	0.933	0.97426	0.618	0.92126	D	0.759	0.91777	D	10	0.8686234	0.86118	D	0.193114	0.86284	D	0.812	0.93931	0.614	0.74768	0.952982824142	0.95248	0.8637815541565348	0.86342	0.570495183311	0.53208	0.830244660378	0.86600	D	0.745969	0.93001	D	0.30069	0.83025	D	0.398694	0.92069	D	0.746105826609973	0.43069	D	0.960304	0.93421	D	0.8318361	0.86030	0.7678015	0.86287	0.8318361	0.86032	0.7678015	0.86288	-17.997	0.99523	D	0.9443538078386684	0.97919	0.92	0.85993	P	.;.;.	.;.;.	5.488056	0.91455	32	0.99925551563688086	0.99042	0.99679	0.98601	D	AEFBI	0.904271	0.85436	D	0.973689994732636	0.94876	13.11528	0.939762741019419	0.97084	15.56612	0.999999998510921	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.62	5.62	0.85714	9.756000	0.98104	11.809000	0.96880	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	19.714	0.96103	910	0.22284	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2109.98	33	chr10	68431878	.	G	A	2109.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.530e-01;DP=872;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.22;ReadPosRankSum=0.564;SOR=0.700	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1259	20	0	1	0
chr10	68437047	68437047	T	A	exonic	DNA2	.	nonsynonymous SNV	DNA2:NM_001080449:exon10:c.A1610T:p.E537V,	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.44	B	0.107	B	0.069	N	0.977	D	1.735	L	-2.9	D	0.151	D	0.692	D	0.358	1.459	10.82	2.62	0.754	1.827	8.155	0.341	0.345187264811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.91255	T	0.028	0.54934	D	0.328	0.35893	B	0.107	0.31211	B	0.069477	0.21603	N	0.505401	0.976948	0.39322	D	2.62	0.76659	M	-2.9	0.95953	D	-4.19	0.85541	D	0.575	0.59732	0.151	0.85073	D	0.692	0.89389	D	10	0.3968635	0.55289	T	0.345187	0.92121	D	0.341	0.66297	0.508	0.60386	0.797717899394	0.79583	0.5490143065349095	0.54827	0.261618459004	0.28708	0.344412654638	0.17096	T	0.133506	0.46422	T	0.171852	0.71294	D	0.00907764	0.70923	D	0.399601697921753	0.28927	T	0.693531	0.30321	T	0.09899333	0.23357	0.12760575	0.30714	0.09899333	0.23357	0.12760575	0.30713	-10.185	0.79162	D	0.4417241364248001	0.52710	0.154	0.35225	B	.;.;.	.;.;.	2.669358	0.34795	19.73	0.97523628334759782	0.34416	0.97046	0.72376	D	AEFDBI	0.346763	0.44147	N	-0.2184290877982	0.32378	1.825331	-0.168289522058625	0.32710	1.863715	0.0097454539629489	0.11907	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.17	2.62	0.30337	1.841000	0.38881	2.331000	0.32195	-0.186000	0.09761	1.000000	0.71638	1.000000	0.68203	0.739000	0.35404	0.0:0.0721:0.1342:0.7937	8.155	0.30328	857	0.34089	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1204.98	33	chr10	68437047	.	T	A	1204.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.338e+00;DP=830;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.49;ReadPosRankSum=1.30;SOR=0.673	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1334	20	0	1	0
chr10	68503688	68503688	G	T	exonic	SLC25A16	.	nonsynonymous SNV	SLC25A16:NM_001324312:exon4:c.C365A:p.T122N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.06	B	0.063	B	0.039	N	0.986	N	0.445	N	-1.16	T	-0.903	T	0.252	T	0.046	1.339	10.40	5.99	2.857	2.473	13.411	0.291	0.0022621485963	.	.	8.251e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs753520144	6.916e-06	1.026e-05	2.755e-06	1.111e-05	0.0004	3.5e-06	2.55e-06	6.147e-05	2.542e-05	0	0	0	0	0	0.0004	1.819e-06	0	7.073e-05	6.575e-06	6.57e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.492	0.11479	T	0.06	0.23119	B	0.063	0.27082	B	0.038621	0.24266	N	0.501755	0.986426	0.24618	N	0.25	0.09762	N	.	.	.	.	.	.	0.18	0.19459	-0.9032	0.47650	T	0.252	0.62142	T	10	0.14120358	0.26833	T	0.002262	0.04314	T	.	.	0.298	0.26362	0.505028829284	0.50142	0.5517347055379637	0.55099	0.186505350035	0.20959	0.561312317848	0.47453	T	0.099748	0.40487	T	-0.376938	0.03256	T	-0.596454	0.13111	T	0.555675864219666	0.34691	D	0.823718	0.48487	T	0.088005364	0.20514	0.08023788	0.18134	0.088005364	0.20514	0.08023788	0.18133	-6.056	0.46745	T	0.08096245965821569	0.04135	0.153	0.33913	B	.	.	3.090728	0.41615	21.4	0.93755532734761515	0.23698	0.63423	0.32085	D	AEFBI	0.057895	0.10821	N	-0.0924085751557285	0.37726	2.198967	0.145168666590409	0.46886	2.927426	0.00581062284981797	0.11048	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.99	5.99	0.97299	2.614000	0.46024	8.271000	0.76889	0.596000	0.33519	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.743:0.257	13.411	0.60391	872	0.31118	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	842.98	35	chr10	68503688	.	G	T	842.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.360e-01;DP=766;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.95;ReadPosRankSum=-8.520e-01;SOR=0.636	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1096	20	0	1	0
chr10	68645301	68645301	A	C	exonic	TET1	.	nonsynonymous SNV	TET1:NM_030625:exon4:c.A2572C:p.T858P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.001	B	0.001	B	0.083	N	1.000	N	0	N	3.18	T	-0.974	T	0.010	T	0.186	-0.383	2.202	-4.62	-0.376	-0.413	0.157	0.096	0.00287577995958	.	.	8.244e-06	0	0	0	0	0	0	6.061e-05	6.5e-06	1	154602	rs757552396	6.157e-06	6.156e-06	1.089e-05	1.375e-06	0.0002	2.9e-06	2.1e-06	3.765e-05	2.662e-05	0	0	0	0	0	0.0002	8.993e-07	0	8.116e-05	1.315e-05	1.314e-05	1.285e-05	1.347e-05	4.832e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.832e-05	0	0	0	0	0	0	0	0	0	0.203	0.20154	T	0.246	0.23984	T	0.001	0.07471	B	0.001	0.04355	B	0.083437	0.02379	N	2.031710	1	0.08975	N	0.55	0.14455	N	3.18	0.07478	T	0.04	0.06488	N	0.054	0.02559	-0.9743	0.36279	T	0.010	0.03673	T	10	0.04174134	0.02856	T	0.002876	0.06044	T	0.096	0.27654	0.146	0.04941	0.043077524339	0.03247	0.15425591203591993	0.15346	0.0587377021857	0.06515	0.280730843544	0.07593	T	0.019299	0.15402	T	-0.397782	0.02394	T	-0.712308	0.05177	T	0.0566309832422786	0.06628	T	0.413359	0.10763	T	0.042218216	0.06361	0.039803095	0.04157	0.042218216	0.06361	0.039803095	0.04157	-3.774	0.20417	T	.	.	0.092	0.13597	B	.	.	-0.042819	0.03995	0.908	0.64990780692574179	0.07647	0.07346	0.13367	N	AEFBI	0.119835	0.23372	N	-1.38186228449164	0.02808	0.1245327	-1.39667259729192	0.03287	0.1530421	0.0252594067203467	0.13636	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	5.92	-4.62	0.03129	-0.182000	0.09720	1.057000	0.23687	-0.100000	0.15956	0.000000	0.06391	0.000000	0.08366	0.232000	0.22788	0.2544:0.1886:0.2025:0.3545	0.157	0.00092	645	0.63593	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1938.98	33	chr10	68645301	.	A	C	1938.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.613e+00;DP=828;ExcessHet=0.0000;FS=2.231;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.80;ReadPosRankSum=-6.510e-01;SOR=0.517	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1132	20	0	1	0
chr10	68686695	68686695	C	G	exonic	TET1	.	nonsynonymous SNV	TET1:NM_030625:exon11:c.C5392G:p.L1798V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.573	P	0.25	B	0.001	N	1.000	N	1.845	L	3.22	T	-0.963	T	0.034	T	0.19	1.146	9.669	3.6	1.017	0.494	10.835	0.085	0.00687961992902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.027	0.55341	D	0.573	0.38659	P	0.25	0.39011	B	0.000590	0.00643	N	3.712940	1	0.08975	N	1.235	0.30780	L	3.22	0.07024	T	-1.41	0.34795	N	0.165	0.17416	-0.9627	0.38664	T	0.034	0.14683	T	10	0.100427985	0.18287	T	0.00688	0.18205	T	0.085	0.24743	0.08	0.00663	0.043077524339	0.03247	0.18915610632593677	0.18833	0.324318538032	0.34596	0.279071420431	0.07363	T	0.078328	0.35865	T	-0.255759	0.13400	T	-0.605156	0.12381	T	0.418822467327118	0.29647	T	0.748825	0.36981	T	0.2031321	0.42381	0.15773587	0.36868	0.2031321	0.42380	0.15773587	0.36867	-3.869	0.21839	T	.	.	0.092	0.13550	B	.	.	1.208519	0.16011	12.26	0.91290376666388673	0.20550	0.18583	0.20320	N	AEFGBHCI	0.052679	0.09426	N	-0.477637910840035	0.22816	1.220894	-0.571017506924721	0.20250	1.090155	0.183428672697238	0.17903	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	4.52	3.6	0.40374	0.123000	0.15536	0.174000	0.15553	0.549000	0.26987	0.006000	0.17386	0.000000	0.08366	0.070000	0.16646	0.0:0.8079:0.1921:0.0	10.835	0.45890	685	0.59416	2OGFeDO, oxygenase domain|2OGFeDO, oxygenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	625.98	35	chr10	68686695	.	C	G	625.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.965e+00;DP=707;ExcessHet=0.0000;FS=5.573;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.27;ReadPosRankSum=-1.331e+00;SOR=0.185	GT:AD:DP:GQ:PL	0/0:35,0:35:90:0,90,1350	20	0	1	0
chr10	68884949	68884949	G	A	exonic	STOX1	.	nonsynonymous SNV	STOX1:NM_001130161:exon3:c.G1153A:p.E385K	Preeclampsia/eclampsia 4	.	0	1509	12	1	0	14	0.00461741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.826	P	0.000	D	1.000	D	2.56	M	-1.62	D	0.591	D	0.740	D	0.577	4.087	21.0	5.72	2.699	9.633	19.875	0.566	.	0.0002	0.00998403	0.0058	0.0002	0.0002	0.0002	0	0.0003	0.0022	0.0406	0.0050646	783	154602	rs200117499	0.0025	0.0025	0.0015	0.0036	0.0380	0.0025	0.0024	0.0369	0.0365	0.0005	8.944e-05	0.0032	2.519e-05	0	0.0026	0.0001	0.0031	0.0380	0.0014	0.0014	0.0007	0.0021	0.0363	0.0012	0.0011	0.0319	0.0302	0.0001	0	0.0001	0.0020	0.0002	0	0	0.0002	0.0009	0.0363	0.006	0.61437	D	0.0	0.92824	D	0.999	0.77913	D	0.826	0.59373	P	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	3.21	0.89262	M	-1.62	0.82347	D	-3.03	0.62747	D	0.573	0.59563	0.591	0.91785	D	0.740	0.91123	D	10	0.007938951	0.00180	T	.	.	.	0.566	0.82289	.	.	0.838516671336	0.83697	0.5094777767590273	0.50869	0.392926069305	0.40471	0.489928007126	0.37428	T	0.217738	0.58026	T	-0.199982	0.20807	T	-0.0314683	0.68270	D	0.134576356795939	0.15798	T	0.857914	0.54791	D	0.47448382	0.65565	0.36013976	0.61461	0.5035106	0.67302	0.36013976	0.61461	-6.363	0.49220	T	0.77365992344935	0.85439	0.132	0.45086	B	.;.;.	.;.;.	3.992822	0.58778	24.0	0.9990849136747314	0.97875	0.99788	0.99470	D	AEFBI	0.905740	0.85763	D	0.796221694347726	0.85869	8.706829	0.749981216235556	0.86154	8.799867	0.999999999243709	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	5.72	5.72	0.89380	9.765000	0.98142	9.751000	0.81472	-0.167000	0.11441	1.000000	0.71638	1.000000	0.68203	0.112000	0.18829	0.0:0.0:1.0:0.0	19.875	0.96865	676	0.60355	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2932.98	101	chr10	68884949	.	G	A	2932.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.880e-01;DP=960;ExcessHet=0.0000;FS=1.146;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.20;ReadPosRankSum=1.60;SOR=0.582	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1155	20	0	1	0
chr10	69097216	69097216	G	A	exonic	SRGN	.	nonsynonymous SNV	SRGN:NM_002727:exon2:c.G212A:p.R71K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.057	B	0.053	B	0.125	N	1.000	N	1.995	M	0.89	T	-1.024	T	0.081	T	0.215	0.454	6.467	2.0	0.630	-0.125	4.010	0.080	0.00592329439927	.	0.000199681	4.123e-05	0	0	0	0	0	0	0.0003	3.88e-05	6	154602	rs562386042	3.151e-05	3.215e-05	1.499e-05	4.819e-05	0.0005	2.415e-05	2.16e-05	0.0004	0.0003	0	0	0	0	0	0	0	3.316e-05	0.0005	2.628e-05	2.625e-05	1.286e-05	4.032e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.527	0.07093	T	0.201	0.27503	T	0.057	0.22878	B	0.053	0.25678	B	0.124973	0.18860	N	0.470905	1	0.08975	N	1.15	0.29295	L	0.89	0.45636	T	-0.78	0.21644	N	0.057	0.02861	-1.0238	0.22476	T	0.081	0.32060	T	10	0.03214428	0.01360	T	0.005923	0.15430	T	0.080	0.23350	0.54	0.65161	0.499985177359	0.49634	0.25320902973339854	0.25234	0.289159646238	0.31319	0.285022079945	0.08202	T	0.131098	0.46039	T	-0.481563	0.00724	T	-0.599507	0.12854	T	0.012946896963143	0.00223	T	0.285971	0.05105	T	0.049839277	0.08912	0.034432285	0.02508	0.049839277	0.08912	0.034432285	0.02508	-3.428	0.15436	T	.	.	0.101	0.17573	B	.	.	0.508427	0.08773	5.550	0.91346835036983776	0.20610	0.07267	0.13291	N	AEFBCI	0.459721	0.51021	N	-0.617464615848329	0.18420	0.9561486	-0.588053665771199	0.19804	1.064193	0.999994748847196	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	5.16	2.0	0.25495	-0.119000	0.10649	.	.	-0.110000	0.15115	0.001000	0.13787	0.001000	0.17328	0.192000	0.21661	0.0936:0.1528:0.5855:0.1681	4.010	0.09108	756	0.51065	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1175.98	42	chr10	69097216	.	G	A	1175.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=1.03;QD=12.64;ReadPosRankSum=0.396;SOR=0.641	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,108,1620	20	0	1	0
chr10	69905818	69905818	G	A	exonic	COL13A1	.	nonsynonymous SNV	COL13A1:NM_001368896:exon13:c.G776A:p.R259Q	Myasthenic syndrome, congenital, 19, Autosomal recessive	.	426	1091	5	0	0	5	0.00228624	.	.	1491363	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.33	T	1.0	D	0.993	D	0.000	D	0.949	D	-0.045	N	-3.07	D	0.561	D	0.746	D	0.599	3.730	18.94	5.2	2.688	5.579	16.679	0.477	0.084327629592	.	.	0.0002	0	0	0.0002	0	7.804e-05	0.0012	0.0009	0.0001552	24	154602	rs369087232	0.0001	0.0001	9.259e-05	0.0002	0.0010	0.0001	0.0001	0.0007	0.0007	8.962e-05	0.0001	3.827e-05	5.039e-05	0	0.0010	5.937e-05	0.0003	0.0009	0.0001	0.0001	5.139e-05	0.0002	0.0006	8.169e-05	6.725e-05	0.0003	0.0002	0	0	0.0006	0	0	0	0	0.0001	0	0.0004	0.436	0.22746	T	0.574	0.09329	T	0.999	0.77913	D	0.913	0.76113	D	0.000256	0.46924	D	0.086125	0.94933	0.37648	D	0.87	0.21467	L	-3.07	0.94114	D	-0.86	0.26639	N	0.623	0.65501	0.561	0.91383	D	0.746	0.91348	D	10	0.14971823	0.28329	T	0.084328	0.74303	D	0.477	0.76881	.	.	0.859052421589	0.85768	0.40286607726822776	0.40202	0.624366153871	0.56642	0.56511425972	0.47988	T	0.257302	0.62832	T	-0.117159	0.33589	T	0.0084914	0.70884	D	0.182576179504395	0.19396	T	0.918808	0.72135	D	0.128618	0.30064	0.09888815	0.23592	0.128618	0.30064	0.09888815	0.23592	-6.515	0.50402	T	.	.	0.124	0.26825	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.274277	0.65055	24.8	0.99895798825215687	0.96895	0.97010	0.72170	D	AEFBI	0.634828	0.61456	D	0.426673351733378	0.62892	4.513009	0.495526181365233	0.67692	5.118309	0.999997929376412	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.2	5.2	0.71720	5.688000	0.67889	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	16.679	0.85146	764	0.49969	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	823.98	41	chr10	69905818	.	G	A	823.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.299;DP=797;ExcessHet=0.0000;FS=0.912;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=0.176;SOR=0.935	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1389	20	0	1	0
chr10	70142718	70142718	C	G	exonic	TYSND1	.	nonsynonymous SNV	TYSND1:NM_173555:exon3:c.G1433C:p.S478T,	.	.	414	1107	1	0	0	1	0.000451467	.	.	2447315	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.36	T	0.312	B	0.171	B	0.001	N	1.000	D	1.27	L	-2.4	D	-0.084	T	0.562	D	0.131	2.070	12.88	5.21	2.710	2.414	16.281	0.213	0.0772697002794	0.0002	.	0.0002	0	0	0	0	0.0001	0	0.0006	9.7e-05	15	154602	rs147722950	0.0001	0.0001	8.721e-05	0.0001	0.0007	9.885e-05	9.293e-05	0.0006	0.0005	5.975e-05	2.254e-05	0	0	1.879e-05	0.0003	8.009e-05	0.0001	0.0007	9.855e-05	9.85e-05	7.707e-05	0.0001	0.0008	6.006e-05	4.879e-05	0.0003	0.0002	4.826e-05	0	0	0	0.0002	0	0	0.0001	0	0.0008	0.023	0.48186	D	0.042	0.50226	D	0.312	0.32836	B	0.171	0.35348	B	0.001223	0.39743	N	0.207894	1	0.81001	D	1.1	0.28011	L	-2.4	0.88455	D	-1.94	0.45042	N	0.384	0.42541	-0.0841	0.80462	T	0.562	0.84050	D	10	0.17646721	0.32632	T	0.07727	0.72730	D	0.213	0.50496	.	.	0.773876509559	0.77180	0.6289277434647972	0.62825	.	.	0.295575290918	0.09743	T	0.43163	0.77968	T	-0.28119	0.10542	T	-0.298955	0.44835	T	0.0370363395634294	0.03161	T	0.655934	0.26583	T	0.19049644	0.40637	0.16536029	0.38259	0.19049644	0.40637	0.16536029	0.38258	-6.889	0.53218	T	.	.	0.172	0.37690	B	.	.	3.122259	0.42153	21.5	0.98267002344077303	0.39722	0.45542	0.27562	N	AEFGBCI	0.143479	0.26618	N	-0.144372397209703	0.35475	2.038106	-0.0627548953095547	0.36943	2.156551	0.999999254212903	0.74766	0.706298	0.61202	0	0.643519	0.57511	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.21	5.21	0.72005	2.473000	0.44803	5.998000	0.52441	0.549000	0.26987	0.621000	0.27922	0.996000	0.32793	0.971000	0.54645	0.0:1.0:0.0:0.0	16.281	0.82514	302	0.87871	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1084.98	33	chr10	70142718	.	C	G	1084.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.286e+00;DP=799;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=0.824;SOR=0.770	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1086	20	0	1	0
chr10	70146046	70146063	CTCTCAGTTGATCCGCCT	-	exonic	TYSND1	.	nonframeshift deletion	TYSND1:NM_001040273:exon1:c.524_541del:p.E175_R180del	.	.	411	1107	3	1	0	5	0.00225327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.000998403	0.0015	0.0005	0.0005	0.0045	0.0016	0.0017	0.0027	0.0009	0.0003458	9	26028	rs562289648	0.0020	0.0020	0.0020	0.0019	0.0023	0.0019	0.0019	0.0022	0.0022	0.0002	0.0005	3.865e-05	0.0019	0.0003	0.0009	0.0023	0.0017	0.0011	0.0012	0.0012	0.0013	0.0012	0.0033	0.0011	0.0010	0.0021	0.0017	0.0005	0	0.0007	0	0.0033	0.0005	0	0.0019	0.0009	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	717.94	38	chr10	70146045	.	GCTCTCAGTTGATCCGCCT	G	717.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.35;DP=899;ExcessHet=0.0000;FS=0.988;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.11;ReadPosRankSum=0.548;SOR=0.896	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr10	70266197	70266197	C	T	exonic	NPFFR1	.	nonsynonymous SNV	NPFFR1:NM_022146:exon2:c.G202A:p.V68M,	.	.	424	1093	5	0	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	2.82	M	1.04	T	-0.430	T	0.280	T	0.725	3.815	19.37	4.14	2.347	6.016	11.625	0.389	0.0807241906761	0.0012	0.000599042	0.0011	0.0006	0.0004	0	0.0006	0.0016	0.0033	0.0002	0.001119	173	154602	rs188869837	0.0012	0.0012	0.0012	0.0012	0.0021	0.0011	0.0011	0.0013	0.0013	0.0005	0.0004	0	0	0.0010	0.0021	0.0014	0.0010	0.0003	0.0010	0.0010	0.0010	0.0011	0.0017	0.0009	0.0009	0.0014	0.0013	0.0006	0	0.0007	0.0003	0	0.0004	0	0.0017	0.0014	0.0004	0.001	0.78490	D	0.025	0.56192	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.14	0.88230	M	1.04	0.40218	T	-2.41	0.52938	N	0.91	0.91162	-0.4296	0.71080	T	0.280	0.65219	T	10	0.18727466	0.34230	T	0.080724	0.73523	D	0.389	0.70521	.	.	0.83208621434	0.83049	0.8489907470491497	0.84861	0.461430799888	0.45681	0.621265947819	0.55908	T	0.122149	0.44561	T	-0.210915	0.19250	T	-0.0720156	0.65482	T	0.065868700493085	0.08059	T	0.941306	0.78096	D	0.7732971	0.82246	0.84563595	0.91212	0.7732971	0.82247	0.84563595	0.91213	-14.912	0.95643	D	.	.	0.788	0.76728	P	.	.	4.753300	0.76773	26.6	0.99903892994125387	0.97502	0.94310	0.60759	D	AEFDBI	0.614864	0.60202	D	0.701973314518242	0.79761	7.146589	0.621073992719451	0.76473	6.497372	0.999999998246149	0.74766	0.446893	0.09132	0	0.547309	0.14657	0	0.573078	0.19857	0	0.530356	0.10902	0	.	.	5.05	4.14	0.47821	6.137000	0.71462	3.156000	0.36547	0.549000	0.26987	1.000000	0.71638	0.997000	0.33255	0.998000	0.85391	0.0:0.9122:0.0:0.0878	11.625	0.50398	434	0.80536	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	5323.08	33	chr10	70266197	.	C	T	5323.08	.	AC=2;AF=0.048;AN=42;DP=882;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.90;SOR=0.811	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1430	20	1	0	0
chr10	70600805	70600805	C	T	exonic	PRF1	.	nonsynonymous SNV	PRF1:NM_001083116:exon2:c.G98A:p.R33H	Aplastic anemia;Hemophagocytic lymphohistiocytosis, familial, 2, Autosomal recessive;Lymphoma, non-Hodgkin	.	.	.	.	.	.	.	.	.	.	639121	Lymphoma,_non-Hodgkin,_familial|Familial_hemophagocytic_lymphohistiocytosis_2|Aplastic_anemia	MONDO:MONDO:0011508,MedGen:C4721532,OMIM:605027|MONDO:MONDO:0011337,MedGen:C1863727,OMIM:603553,Orphanet:540|Human_Phenotype_Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135,Orphanet:182040,Orphanet:88	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.003	B	0.001	B	0.434	N	1.000	N	1.95	M	-2.83	D	-0.497	T	0.602	D	0.077	1.883	12.26	-2.79	-0.590	-0.082	3.430	0.197	0.0736368969609	.	0.000199681	0.0001	0.0001	0	0.0002	0	0.0001	0	6.717e-05	8.41e-05	13	154602	rs531407289	4.249e-05	4.309e-05	3.544e-05	4.961e-05	0.0004	3.382e-05	3.07e-05	0.0003	0.0002	2.988e-05	4.488e-05	0	0.0004	0	0	2.701e-05	6.64e-05	9.305e-05	3.283e-05	3.281e-05	5.138e-05	1.343e-05	0.0002	1.26e-05	7.97e-06	1.972e-05	1.124e-05	0	0	0	0	0.0002	0	0	5.88e-05	0	0	0.03	0.45393	D	0.141	0.33442	T	0.003	0.11197	B	0.001	0.04355	B	0.434141	0.04721	N	1.310930	1	0.08975	N	1.845	0.48678	L	-2.83	0.91249	D	-1.16	0.29727	N	0.127	0.12055	-0.4969	0.68761	T	0.602	0.85825	D	10	0.03486827	0.01711	T	0.073637	0.71841	D	0.197	0.47942	.	.	0.69908367177	0.69648	0.5317319199331124	0.53098	0.138196012409	0.15579	0.24595426023	0.03353	T	0.298597	0.67115	T	-0.375056	0.03346	T	-0.433788	0.29507	T	0.0134194601236397	0.00244	T	0.59944	0.22338	T	0.028370772	0.02164	0.03168411	0.01792	0.028246453	0.02134	0.030464431	0.01506	-3.999	0.23789	T	0.4037207272633805	0.49512	0.100	0.16973	B	.;.;.	.;.;.	0.540016	0.09088	5.869	0.95777417033416823	0.27794	0.03045	0.07938	N	AEFDGBHCI	0.049164	0.08465	N	-1.21055970961267	0.04844	0.2195582	-1.29302513268529	0.04524	0.2135892	0.999999269799378	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	5.7	-2.79	0.05494	0.093000	0.14925	-3.479000	0.02755	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.156000	0.20513	0.125:0.1823:0.1236:0.5691	3.430	0.06995	493	0.76500	.;Membrane attack complex component/perforin (MACPF) domain;Membrane attack complex component/perforin (MACPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1288.98	36	chr10	70600805	.	C	T	1288.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.37;DP=836;ExcessHet=0.0000;FS=2.653;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.71;ReadPosRankSum=1.41;SOR=0.976	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr10	70702363	70702363	C	T	exonic	ADAMTS14	.	nonsynonymous SNV	ADAMTS14:NM_080722:exon3:c.C574T:p.R192W	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.089	B	0.082	B	0.064	N	0.895	D	1.205	L	3.27	T	-1.004	T	0.006	T	0.18	2.794	15.30	-1.43	0.043	0.141	6.154	0.045	.	0.0002	0.00579073	0.0043	0	0.0107	0.0241	0.0059	0.0019	0.0111	0.0013	0.003868	598	154602	rs74797959	0.0018	0.0018	0.0018	0.0018	0.0322	0.0018	0.0017	0.0308	0.0302	5.974e-05	0.0094	0.0004	0.0322	0.0057	0.0007	0.0004	0.0019	0.0014	0.0024	0.0024	0.0017	0.0030	0.0247	0.0022	0.0021	0.0212	0.0199	7.217e-05	0	0.0081	0.0006	0.0247	0.0049	0	0.0006	0.0019	0.0019	0.101	0.30375	T	0.096	0.39492	T	0.075	0.24198	B	0.082	0.29098	B	0.064025	0.21981	N	0.409242	0.894792	0.36033	D	1.59	0.40313	L	3.27	0.06602	T	-4.81	0.81107	D	0.252	0.28498	-1.0041	0.28725	T	0.006	0.02018	T	10	0.008848399	0.00200	T	.	.	.	0.045	0.12272	.	.	0.254761474806	0.25079	0.562819768584376	0.56208	0.20091022214	0.22489	0.262042880058	0.05135	T	0.199564	0.55688	T	-0.615162	0.00118	T	-0.638829	0.09754	T	0.0520772327345857	0.05860	T	0.813919	0.46746	T	0.24138181	0.47053	0.33311367	0.59152	0.24138181	0.47053	0.33311367	0.59151	-8.651	0.65424	D	.	.	0.070	0.03515	B	.;.	.;.	1.978796	0.25141	16.65	0.99079668288537148	0.51930	0.74694	0.36546	D	AEFDBI	0.451637	0.50553	N	-0.565631889626246	0.19996	1.050869	-0.465595974323716	0.23108	1.258485	0.500512232774419	0.20938	0.568482	0.32641	0	0.573078	0.20572	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.93	-1.43	0.08418	0.146000	0.16000	-0.645000	0.08057	-0.944000	0.02069	0.948000	0.32982	0.005000	0.19230	0.955000	0.50612	0.174:0.486:0.0:0.34	6.154	0.19545	326	0.86709	.;Peptidase M12B, propeptide	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1955.98	35	chr10	70702363	.	C	T	1955.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.858;DP=841;ExcessHet=0.0000;FS=2.831;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=-6.230e-01;SOR=0.728	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1403	20	0	1	0
chr10	70730135	70730135	C	T	exonic	ADAMTS14	.	nonsynonymous SNV	ADAMTS14:NM_080722:exon6:c.C988T:p.R330C	.	.	405	1084	32	1	0	34	0.0154405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.99	D	0.000	D	1.000	D	1.845	L	-0.07	T	-0.397	T	0.286	T	0.959	4.316	22.6	3.73	2.608	3.715	12.841	0.406	.	0.0028	0.00279553	0.0039	0.0009	0.0007	0	0.0008	0.0036	0.0022	0.0127	0.0037516	580	154602	rs41307534	0.0038	0.0038	0.0035	0.0041	0.0122	0.0037	0.0037	0.0116	0.0114	0.0005	0.0009	0.0025	2.52e-05	0.0014	0.0089	0.0036	0.0028	0.0122	0.0025	0.0025	0.0026	0.0025	0.0099	0.0023	0.0022	0.0077	0.0069	0.0006	0.0242	0.0010	0.0032	0	0.0008	0.0102	0.0036	0.0033	0.0099	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.985	0.76457	D	0.000013	0.62929	D	0.065417	0.999946	0.51968	D	2.275	0.64647	M	-0.07	0.63738	T	-5.92	0.88963	D	0.905	0.91047	-0.3974	0.72109	T	0.286	0.65802	T	10	0.012337029	0.00265	T	.	.	.	0.406	0.71869	.	.	0.836419884851	0.83485	0.6708937866827652	0.67027	0.81188555165	0.66771	0.749727368355	0.74406	T	0.326422	0.69704	T	-0.0241255	0.48263	T	0.204	0.83325	D	0.0422191017684646	0.04096	T	0.976302	0.91743	D	0.7497674	0.80855	0.60920113	0.77271	0.7497674	0.80856	0.60920113	0.77272	-13.021	0.89451	D	.	.	0.353	0.56799	A	.;.	.;.	5.829889	0.93735	33	0.99937741511229405	0.99661	0.93661	0.58832	D	AEFDGBI	0.653893	0.62677	D	0.632925660855265	0.75266	6.276043	0.588476998448334	0.74112	6.082002	0.999988406298321	0.51787	0.600919	0.35232	0	0.573888	0.26702	0	0.640751	0.46059	0	0.564101	0.26826	0	.	.	4.7	3.73	0.41982	3.928000	0.56220	3.201000	0.36751	0.599000	0.40250	0.998000	0.41325	0.997000	0.33255	0.997000	0.79791	0.2573:0.7427:0.0:0.0	12.841	0.57185	324	0.86790	.;Peptidase M12B, ADAM/reprolysin|Peptidase M12B, ADAM/reprolysin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1260.98	33	chr10	70730135	.	C	T	1260.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.49;DP=813;ExcessHet=0.0000;FS=1.664;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=0.048;SOR=0.520	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1350	20	0	1	0
chr10	70749921	70749921	C	T	exonic	ADAMTS14	.	nonsynonymous SNV	ADAMTS14:NM_080722:exon16:c.C2363T:p.A788V	.	.	430	1078	14	0	0	14	0.00645161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.004	B	0.009	B	0.161	N	1.000	N	-0.69	N	0.67	T	-1.045	T	0.032	T	0.061	0.974	8.976	-4.13	-0.614	0.453	1.101	0.141	.	.	0.013778	0.0077	0.0003	0.0014	0.0003	0	9.026e-05	0.0033	0.0548	0.0067334	1041	154602	rs375472897	0.0035	0.0035	0.0020	0.0050	0.0548	0.0034	0.0034	0.0535	0.0529	0.0003	0.0006	0	7.557e-05	0	0.0036	7.734e-05	0.0041	0.0548	0.0018	0.0018	0.0008	0.0028	0.0539	0.0016	0.0015	0.0485	0.0464	4.814e-05	0	0.0002	0	0.0004	9.422e-05	0.0034	4.411e-05	0.0005	0.0539	0.297	0.14645	T	0.292	0.20877	T	0.004	0.12183	B	0.004	0.10090	B	0.161366	0.17653	N	0.576977	1	0.08975	N	1.1	0.28011	L	0.67	0.52187	T	-0.86	0.23372	N	0.2	0.22098	-1.0447	0.15913	T	0.032	0.13592	T	10	0.0022140145	0.00032	T	.	.	.	0.141	0.37795	.	.	0.269111216191	0.26524	0.3587299531264283	0.35786	0.171333639152	0.19303	0.239934742451	0.02784	T	0.012948	0.11287	T	-0.661024	0.00062	T	-0.681312	0.06903	T	0.00471642684655219	0.00050	T	0.0751925	0.00551	T	0.029759804	0.02524	0.028087288	0.01013	0.029759804	0.02524	0.028087288	0.01013	-5.205	0.38992	T	.	.	0.073	0.04847	B	.;.	.;.	0.232072	0.06131	2.578	0.95440167658866371	0.26945	0.23449	0.22079	N	AEFDBCI	0.170846	0.29777	N	-1.30405548479824	0.03628	0.1624193	-1.30949037245449	0.04307	0.202852	0.953472086851655	0.28075	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.82	-4.13	0.03639	0.300000	0.18911	-7.149000	0.01220	-0.804000	0.03133	0.000000	0.06391	0.000000	0.08366	0.125000	0.19370	0.2227:0.3855:0.1102:0.2816	1.101	0.01579	352	0.85375	.;ADAM-TS Spacer 1	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	767.98	35	chr10	70749921	.	C	T	767.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.326e+00;DP=743;ExcessHet=0.0000;FS=3.855;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.71;ReadPosRankSum=-4.170e-01;SOR=0.332	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1048	20	0	1	0
chr10	70772558	70772558	G	A	exonic	TBATA	.	nonsynonymous SNV	TBATA:NM_001318241:exon10:c.C929T:p.P310L	.	.	418	1099	5	0	0	5	0.00226963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.0	B	0.002	B	0.493	N	1.000	N	0.69	N	1.07	T	-1.058	T	0.029	T	0.101	-1.000	0.260	-8.6	-3.341	-2.255	7.515	0.002	.	0.0025	0.00738818	0.0050	0.0057	0.0338	0.0002	0	0.0015	0.0066	0.0024	0.0049094	759	154602	rs12415264	0.0021	0.0021	0.0023	0.0020	0.0343	0.0021	0.0020	0.0329	0.0323	0.0061	0.0343	0.0225	0.0005	0	0.0017	0.0003	0.0031	0.0029	0.0054	0.0054	0.0055	0.0053	0.0304	0.0051	0.0050	0.0281	0.0272	0.0056	0	0.0304	0.0216	0.0002	0	0	0.0003	0.0052	0.0025	0.898	0.02436	T	0.749	0.04825	T	0.0	0.02946	B	0.002	0.06944	B	0.493337	0.05048	N	1.371960	1	0.08975	N	.	.	.	1.07	0.39586	T	-0.6	0.17834	N	0.048	0.01999	-1.0575	0.12388	T	0.029	0.12322	T	10	0.002465248	0.00037	T	.	.	.	0.002	0.00045	.	.	0.0138822411134	0.00435	0.07844006018162397	0.07780	0.0919349002003	0.10376	0.252596437931	0.04046	T	0.113615	0.43078	T	-0.686563	0.00044	T	-0.733214	0.04183	T	0.000120833818337297	0.00001	T	0.510449	0.16283	T	0.016641092	0.00212	0.021764956	0.00217	0.01711251	0.00246	0.021764956	0.00217	-4.071	0.24861	T	0.09028357265959742	0.05607	0.062	0.01668	B	.;.	.;.	-1.431304	0.00339	0.006	0.43419445943242924	0.03268	0.00559	0.02549	N	AEFDBI	0.043855	0.06984	N	-1.89816676560435	0.00346	0.01487338	-2.02701894771246	0.00268	0.01183917	0.99999958689132	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.3	-8.6	0.00773	-2.598000	0.00968	-3.241000	0.02942	-2.756000	0.00196	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5812:0.0:0.1775:0.2413	7.515	0.26762	440	0.80101	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	841.98	33	chr10	70772558	.	G	A	841.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.615;DP=834;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.08;ReadPosRankSum=1.60;SOR=0.611	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1335	20	0	1	0
chr10	70883979	70883979	T	C	exonic	PCBD1	.	nonsynonymous SNV	PCBD1:NM_000281:exon4:c.A286G:p.I96V	Hyperphenylalaninemia, BH4-deficient, D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2096477	Pterin-4_alpha-carbinolamine_dehydratase_1_deficiency	MONDO:MONDO:0009908,MedGen:C1849700,OMIM:264070,Orphanet:1578,Orphanet:238583	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.188	B	0.119	B	0.000	D	1.000	D	2.68	M	-2.82	D	0.294	D	0.710	D	0.352	1.644	11.46	4.56	0.992	4.656	11.547	0.490	0.0640507744594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	1.361e-06	4.125e-06	3.597e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.41096	D	0.039	0.51112	D	0.188	0.29318	B	0.119	0.32162	B	0.000000	0.84330	D	0.046997	0.999982	0.54805	D	2.135	0.59519	M	-2.82	0.91192	D	-0.81	0.22294	N	0.225	0.25253	0.294	0.87457	D	0.710	0.90032	D	10	0.31371367	0.48819	T	0.064051	0.69158	D	0.490	0.77720	0.683	0.82078	0.77224762477	0.77016	0.4943380254093764	0.49354	0.218719741874	0.24411	0.518507957458	0.41416	T	0.587321	0.86578	D	0.0912654	0.63332	D	-0.10668	0.62874	T	0.511732399463654	0.33062	D	0.766723	0.39447	T	0.280562	0.51103	0.26347154	0.52154	0.280562	0.51102	0.26347154	0.52153	-6.833	0.52804	T	.	.	0.176	0.38462	B	.	.	3.648326	0.51769	23.1	0.95849751208941958	0.27989	0.91100	0.52860	D	AEFDBCI	0.641910	0.61907	D	-0.151568324771143	0.35167	2.016609	-0.102002154123516	0.35310	2.041298	0.999989410492586	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	5.69	4.56	0.55644	4.637000	0.61044	5.045000	0.46946	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0695:0.0:0.9305	11.547	0.49951	587	0.69154	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1967.98	43	chr10	70883979	.	T	C	1967.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.290e-01;DP=941;ExcessHet=0.0000;FS=10.170;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.48;ReadPosRankSum=-7.270e-01;SOR=0.283	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr10	71291811	71291811	C	G	exonic	UNC5B	.	nonsynonymous SNV	UNC5B:NM_001244889:exon9:c.C1641G:p.I547M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.687	P	0.54	P	0.000	D	0.871	D	1.475	L	0.89	T	-1.030	T	0.054	T	0.35	2.016	12.70	0.801	0.387	-0.033	5.792	0.081	.	.	0.00479233	0.0017	0	8.985e-05	0.0224	0	0	0	0	0.001533	237	154602	rs150945696	0.0005	0.0005	0.0005	0.0005	0.0161	0.0005	0.0004	0.0151	0.0147	5.99e-05	4.512e-05	0	0.0161	0	0.0002	3.609e-06	0.0009	5.883e-05	0.0009	0.0009	0.0009	0.0009	0.0251	0.0008	0.0007	0.0216	0.0203	9.62e-05	0	0	0	0.0251	0	0	0	0.0005	0.0004	0.24	0.17881	T	0.199	0.27679	T	0.687	0.41560	P	0.54	0.48825	P	0.000449	0.44317	D	0.187997	0.870756	0.35558	D	2.495	0.72670	M	0.89	0.45636	T	-1.36	0.35792	N	0.337	0.38746	-1.0305	0.20292	T	0.054	0.22959	T	10	0.008257061	0.00187	T	.	.	.	0.081	0.23632	.	.	0.550967595299	0.54754	0.5160986835634689	0.51532	0.50085204094	0.48485	0.701445937157	0.67353	T	0.105445	0.41592	T	-0.486821	0.00677	T	-0.447686	0.27952	T	0.0851217319889146	0.10629	T	0.771723	0.40231	T	0.12871882	0.30085	0.17604767	0.40113	0.12871882	0.30085	0.17604767	0.40112	-7.09	0.54688	T	.	.	0.168	0.48428	B	.;.	.;.	3.080513	0.41440	21.4	0.9914620121725185	0.53682	0.85850	0.45031	D	AEFDBI	0.400525	0.47537	N	-0.172966421341319	0.34264	1.953595	-0.19187863163676	0.31834	1.805316	0.998285450239358	0.36695	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	4.34	0.801	0.17822	-0.014000	0.12594	0.106000	0.14715	0.547000	0.25779	0.810000	0.29852	0.942000	0.28804	0.987000	0.62547	0.0:0.4949:0.1367:0.3684	5.792	0.17629	889	0.27310	ZU5 domain|ZU5 domain|ZU5 domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	469.98	44	chr10	71291811	.	C	G	469.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.241;DP=737;ExcessHet=0.0000;FS=5.041;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=0.152;SOR=1.705	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,1020	20	0	1	0
chr10	71296712	71296712	G	C	exonic	UNC5B	.	nonsynonymous SNV	UNC5B:NM_001244889:exon14:c.G2427C:p.Q809H	.	.	.	.	.	.	.	.	.	.	.	2348010	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.999	D	0.000	D	1.000	D	2.56	M	0.59	T	-0.412	T	0.324	T	0.719	3.863	19.63	3.92	1.729	7.187	10.694	0.367	0.0204609317503	0.0005	.	0.0004	0	0	0	0	0.0006	0	0.0005	0.0006916	18	26028	rs140171403	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0003	0.0003	5.996e-05	2.248e-05	3.863e-05	2.521e-05	1.889e-05	0.0002	0.0003	0.0003	0.0003	0.0001	0.0002	0.0002	8.214e-05	0.0006	7.724e-05	6.403e-05	0.0002	0.0001	0	0	0	0	0.0002	0	0	0.0002	0	0.0006	0.065	0.36310	T	0.002	0.79402	D	1.0	0.90584	D	0.997	0.92359	D	0.000011	0.62929	D	0.068121	1	0.81001	D	2.735	0.79925	M	0.59	0.55090	T	-4.77	0.80425	D	0.732	0.73285	-0.4121	0.71643	T	0.324	0.69289	T	10	0.6572045	0.69943	D	0.020461	0.43059	T	0.367	0.68670	0.529	0.63560	0.826691596	0.82505	0.778203457284303	0.77770	0.628086612755	0.56883	0.617977499962	0.55443	T	0.51351	0.82848	D	-0.100704	0.36308	T	-0.0461708	0.67283	D	0.791668355464935	0.45799	D	0.944006	0.78847	D	0.3522559	0.57242	0.2896455	0.54985	0.3522559	0.57242	0.2896455	0.54984	-8.91	0.67116	D	.	.	0.751	0.75395	P	.;.	.;.	4.153920	0.62332	24.4	0.9975001445988021	0.84152	0.98625	0.84843	D	AEFBI	0.845176	0.76210	D	0.683711834625781	0.78567	6.897349	0.599271055539245	0.74887	6.214286	0.999999808819775	0.74766	0.732398	0.92422	0	0.563428	0.19063	0	0.743671	0.96076	0	0.586402	0.36253	0	.	.	3.92	3.92	0.44525	7.320000	0.78350	5.292000	0.48211	0.522000	0.23927	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0961:0.0:0.9039:0.0	10.694	0.45083	900	0.24599	UPA domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1158.98	36	chr10	71296712	.	G	C	1158.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.054;DP=783;ExcessHet=0.0000;FS=4.151;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=-5.000e-01;SOR=0.578	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1097	20	0	1	0
chr10	71617355	71617355	G	A	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171930:exon11:c.G1096A:p.A366T	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	.	0	1504	18	0	0	18	0.00594845	.	.	53282	not_provided|not_specified|Nonsyndromic_genetic_hearing_loss|Usher_syndrome_type_1|Usher_syndrome_type_1D|Autosomal_recessive_nonsyndromic_hearing_loss_12	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.55	T	1.0	D	0.995	D	0.000	D	1.000	D	0.495	N	1.01	T	-0.851	T	0.176	T	0.513	5.330	34	5.15	2.677	9.126	18.833	0.198	.	0.0081	0.00199681	0.0070	0.0027	0.0044	0.0001	0.0009	0.0110	0.0067	0.0012	0.0067658	1046	154602	rs143282422	0.0095	0.0095	0.0096	0.0094	0.0102	0.0094	0.0093	0.0100	0.0100	0.0017	0.0052	0.0535	0	0.0013	0.0064	0.0102	0.0104	0.0021	0.0065	0.0065	0.0072	0.0058	0.0091	0.0062	0.0061	0.0085	0.0083	0.0020	0.0121	0.0054	0.0452	0.0004	0.0010	0.0034	0.0091	0.0076	0.0019	0.135	0.29288	T	0.012	0.92824	D	1.0	0.90584	D	0.993	0.83170	D	0.000002	0.62929	D	0.000000	1	0.81001	D	0.415	0.12483	N	1.01	0.41058	T	-0.98	0.29525	N	0.789	0.81261	-0.8505	0.51933	T	0.176	0.52068	T	10	0.008493215	0.00192	T	.	.	.	0.198	0.48105	.	.	0.758690719046	0.75649	0.40012521450796107	0.39927	.	.	0.814825892448	0.84233	D	0.00253	0.44911	T	-0.38339	0.02966	T	-0.313102	0.43325	T	0.0318177186075019	0.02276	T	0.948305	0.80271	D	0.2967483	0.52611	0.3103192	0.57043	0.24499422	0.47454	0.22478768	0.47400	-11.389	0.84152	D	.	.	0.47	0.70478	A	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.917092	0.57157	23.8	0.99939848356716388	0.99767	0.99392	0.95437	D	AEFBI	0.953945	0.97066	D	0.54891561270629	0.70015	5.440025	0.610823582196733	0.75723	6.361509	0.999999999999997	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.15	5.15	0.70287	9.239000	0.94505	11.594000	0.93426	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.833	0.92116	945	0.12563	Cadherin-like;.;.;.;Cadherin-like;Cadherin-like;Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1930.98	33	chr10	71617355	.	G	A	1930.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.052e+00;DP=855;ExcessHet=0.0000;FS=3.979;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=2.21;SOR=1.001	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1276	20	0	1	0
chr10	71705013	71705013	G	A	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171930:exon24:c.G2836A:p.V946M	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	YES	.	.	.	.	.	.	.	.	.	496531	not_provided|not_specified|Usher_syndrome_type_1	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.41	T	0.996	D	0.872	P	0.001	D	1.000	D	1.265	L	.	.	-0.916	T	0.181	T	0.162	3.782	19.20	3.53	1.314	3.087	8.582	0.183	0.00942029683707	.	.	.	.	.	.	.	.	.	.	.	.	.	rs931850625	9.586e-06	9.577e-06	1.09e-05	8.258e-06	0.0001	5.56e-06	4.35e-06	5.849e-05	3.758e-05	0.0001	0	0	0	0	0	6.296e-06	1.657e-05	1.159e-05	1.315e-05	1.313e-05	0	2.691e-05	4.826e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.084	0.55759	T	0.627	0.40110	P	0.23	0.38212	B	0.000657	0.42656	D	0.091610	0.91807	0.36597	D	2.11	0.58565	M	.	.	.	.	.	.	0.335	0.39558	-0.9161	0.46076	T	0.181	0.52813	T	9	0.34992605	0.51875	T	0.00942	0.24693	T	0.183	0.45592	.	.	0.822008364064	0.82033	0.17694574319835527	0.17613	.	.	0.417851090431	0.27541	T	0.015108	0.46904	T	-0.280327	0.10633	T	-0.403778	0.32945	T	0.690274119377136	0.40260	D	0.765423	0.39305	T	0.02416732	0.01222	0.08383662	0.19242	0.02416732	0.01222	0.08383662	0.19242	-4.842	0.35077	T	.	.	0.071	0.06663	B	.;.;.;.;.;.	.;.;.;.;.;.	3.290401	0.45128	22.1	0.99849218584555299	0.92838	0.89190	0.49507	D	AEFDGBI	0.363063	0.45209	N	0.0767140295424567	0.45379	2.795355	0.157618041793782	0.47547	2.983315	0.99999610174804	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	5.5	3.53	0.39533	3.135000	0.50241	1.238000	0.25088	0.676000	0.76740	0.999000	0.42656	0.727000	0.26391	0.431000	0.27472	0.0894:0.33:0.5806:0.0	8.582	0.32798	814	0.42100	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2256.98	36	chr10	71705013	.	G	A	2256.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=908;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=-7.750e-01;SOR=0.670	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr10	71712737	71712737	A	G	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171930:exon27:c.A3293G:p.N1098S	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	.	0	1520	2	0	0	2	0.000657462	.	.	55078	Usher_syndrome_type_1|Retinitis_pigmentosa-deafness_syndrome|not_specified|not_provided|CDH23-related_disorder	MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0010775,MedGen:C5779620,OMIM:500004|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.024	B	0.035	B	0.000	D	1.000	D	3.245	M	.	.	-0.360	T	0.367	T	0.406	3.262	16.95	4.92	1.824	9.300	14.568	0.510	0.347452847964	0.0032	0.000998403	0.0024	0.0015	0.0016	0	0.0005	0.0037	0.0036	0.0002	0.0024773	383	154602	rs41281310	0.0043	0.0043	0.0045	0.0041	0.0053	0.0042	0.0042	0.0052	0.0051	0.0008	0.0015	0.0030	2.519e-05	0.0006	0.0003	0.0053	0.0026	0.0005	0.0025	0.0025	0.0027	0.0022	0.0040	0.0023	0.0022	0.0036	0.0035	0.0010	0.0011	0.0025	0.0026	0	0.0006	0	0.0040	0.0014	0.0004	.	.	.	0.0	0.92824	D	0.01	0.15535	B	0.018	0.18489	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.945	0.84822	M	.	.	.	.	.	.	0.881	0.90818	-0.3604	0.73251	T	0.367	0.72757	T	9	0.01566711	0.00329	T	0.347453	0.92179	D	0.510	0.78971	.	.	0.772906203633	0.77081	0.6748240950027312	0.67420	.	.	0.490558981895	0.37516	T	0.209777	0.93146	T	-0.255659	0.13414	T	-0.134886	0.60558	T	0.070809020024612	0.08764	T	0.963704	0.88511	D	0.2953604	0.52486	0.22443283	0.47355	0.2581605	0.48864	0.19727279	0.43499	-9.55	0.71170	D	.	.	0.265	0.52655	B	.;.;.;.;.	.;.;.;.;.	3.868090	0.56145	23.7	0.99336971787844264	0.60012	0.95515	0.65028	D	AEFDGBCI	0.954022	0.97080	D	0.271391955105883	0.54703	3.635363	0.35871253399463	0.59033	4.077998	0.99999999999989	0.74766	0.646311	0.45356	0	0.48864	0.07623	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.92	4.92	0.64147	9.290000	0.95109	11.083000	0.85785	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	1.0:0.0:0.0:0.0	14.568	0.67786	814	0.42100	Cadherin conserved site|Cadherin-like;Cadherin conserved site|Cadherin-like;Cadherin conserved site|Cadherin-like;Cadherin conserved site|Cadherin-like;Cadherin conserved site|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	1858.98	33	chr10	71712737	.	A	G	1858.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.360e-01;DP=877;ExcessHet=0.0000;FS=1.894;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=-5.220e-01;SOR=0.866	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	20	0	1	0
chr10	71732316	71732316	C	T	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171930:exon31:c.C4045T:p.R1349C	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	.	0	1519	3	0	0	3	0.000986518	.	.	55101	not_provided|Usher_syndrome_type_1D|CDH23-related_disorder|not_specified|Usher_syndrome_type_1|Autosomal_recessive_nonsyndromic_hearing_loss_12	MedGen:C3661900|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|.|MedGen:CN169374|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.16	T	0.999	D	0.954	D	0.000	D	1.000	D	1.445	L	.	.	-0.754	T	0.205	T	0.699	3.112	16.40	4.02	2.756	4.822	11.068	0.132	0.0155882149193	0.0035	0.00179712	0.0026	0.0009	0.0017	0	0.0002	0.0036	0.0067	0.0021	0.0026002	402	154602	rs41281318	0.0046	0.0046	0.0048	0.0044	0.0055	0.0045	0.0044	0.0054	0.0053	0.0008	0.0027	3.854e-05	0	0.0002	0.0005	0.0055	0.0041	0.0020	0.0028	0.0028	0.0030	0.0026	0.0047	0.0026	0.0025	0.0043	0.0041	0.0010	0	0.0034	0	0	0.0002	0.0034	0.0047	0.0019	0.0012	.	.	.	0.002	0.83351	D	0.999	0.77913	D	0.954	0.69447	D	0.000166	0.48594	D	0.129512	1	0.81001	D	1.65	0.42232	L	.	.	.	.	.	.	0.563	0.65758	-0.7541	0.57721	T	0.205	0.56266	T	9	0.012268841	0.00264	T	0.015588	0.36407	T	0.132	0.35948	.	.	0.871030881652	0.86977	0.5785023741125704	0.57779	.	.	0.42542681098	0.28583	T	0.052745	0.66734	T	-0.160308	0.26712	T	0.00151803	0.70435	D	0.0250141886665106	0.01274	T	0.944306	0.78939	D	0.27027136	0.50099	0.16805953	0.38737	0.46063903	0.64711	0.28347036	0.54339	-10.928	0.79262	D	.	.	0.266	0.50025	B	.;.;.;.	.;.;.;.	4.358342	0.66997	25.0	0.99943925356924379	0.99868	0.93420	0.58169	D	AEFBI	0.868756	0.78901	D	0.464164963355541	0.65011	4.769109	0.431493925314599	0.63536	4.589427	0.999999596082398	0.74766	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.99	4.02	0.45968	4.878000	0.62786	4.150000	0.42143	0.530000	0.24713	1.000000	0.71638	0.983000	0.30585	0.150000	0.20306	0.3505:0.6495:0.0:0.0	11.068	0.47206	814	0.42100	.;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	3380.98	36	chr10	71732316	.	C	T	3380.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.36;DP=901;ExcessHet=0.0000;FS=3.277;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.99;ReadPosRankSum=-2.266e+00;SOR=0.487	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,102,1378	20	0	1	0
chr10	71751847	71751847	A	G	exonic	VSIR	.	nonsynonymous SNV	VSIR:NM_022153:exon6:c.T719C:p.I240T,	.	.	412	1085	24	1	0	26	0.0118397	.	.	3409321	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.15	T	0.808	P	0.422	B	0.000	D	1.000	D	1.995	M	0.66	T	-0.859	T	0.168	T	0.476	3.017	16.07	5.82	2.232	5.693	16.173	0.158	.	0.0002	0.00239617	0.0014	0	0.0014	0	0	0.0004	0.0039	0.0113	0.0014359	222	154602	rs151170391	0.0008	0.0009	0.0006	0.0010	0.0097	0.0008	0.0008	0.0091	0.0089	3.183e-05	0.0006	0.0034	0	0	0.0051	0.0002	0.0011	0.0097	0.0006	0.0006	0.0004	0.0007	0.0108	0.0005	0.0004	0.0084	0.0076	7.223e-05	0	0.0004	0.0023	0	0	0.0034	0.0002	0.0009	0.0108	0.07	0.35349	T	0.22	0.25907	T	0.808	0.45299	P	0.422	0.45143	B	0.000418	0.44736	D	0.257076	1	0.81001	D	.	.	.	0.66	0.52416	T	-2.2	0.49519	N	0.679	0.68603	-0.8592	0.51320	T	0.168	0.50697	T	10	0.010266542	0.00229	T	.	.	.	0.158	0.41098	.	.	0.396645960531	0.39282	0.11599831200167962	0.11527	0.531866609832	0.50666	.	.	.	0.092873	0.39095	T	-0.349859	0.04736	T	-0.267363	0.48085	T	0.031107798496653	0.02162	T	0.845215	0.52386	T	0.09921461	0.23412	0.11632411	0.28083	0.09921461	0.23412	0.11632411	0.28082	-5.64	0.43156	T	.	.	0.275	0.50862	B	.	.	3.914739	0.57112	23.8	0.99007520900926638	0.50293	0.96049	0.67302	D	AEFBCI	0.768422	0.70399	D	0.31749123875265	0.57046	3.870607	0.391570939865906	0.61043	4.299221	0.99999997111564	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.82	5.82	0.92740	5.685000	0.67865	11.198000	0.88920	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	1.0:0.0:0.0:0.0	16.173	0.81642	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2160.98	33	chr10	71751847	.	A	G	2160.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.25;DP=870;ExcessHet=0.0000;FS=1.889;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=0.315;SOR=0.636	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1205	20	0	1	0
chr10	71803310	71803310	G	C	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171933:exon8:c.G1042C:p.E348Q	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	YES	1	1454	63	4	0	71	0.0238335	.	.	55203	Usher_syndrome_type_1|Autosomal_recessive_nonsyndromic_hearing_loss_12|Usher_syndrome_type_1D|not_specified|not_provided	MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.51	T	0.0	B	0.006	B	0.181	N	0.992	N	-0.03	N	4.65	T	-0.936	T	0.003	T	0.017	-0.378	2.222	-2.58	-0.719	-0.017	16.621	0.072	.	0.0082	0.00658946	0.0144	0.0019	0.0051	0	0.0035	0.0149	0.0189	0.0287	0.00804	1243	154602	rs41281338	0.0100	0.0100	0.0095	0.0105	0.0237	0.0098	0.0098	0.0229	0.0225	0.0013	0.0036	0.0056	5.236e-05	0.0042	0.0186	0.0101	0.0093	0.0237	0.0073	0.0073	0.0072	0.0073	0.0207	0.0069	0.0068	0.0174	0.0162	0.0016	0	0.0061	0.0075	0.0002	0.0032	0.0068	0.0113	0.0066	0.0207	0.58	0.05992	T	0.172	0.30241	T	0.0	0.02946	B	0.005	0.11217	B	0.181411	0.17092	N	0.552256	0.999999	0.08975	N	0.845	0.21182	L	4.65	0.01779	T	-0.05	0.07736	N	0.143	0.17966	-0.9365	0.43164	T	0.003	0.00864	T	10	0.0042585135	0.00085	T	.	.	.	0.072	0.21020	.	.	0.332386209738	0.32853	0.2250098621263309	0.22415	0.141875730321	0.15990	0.290573954582	0.09005	T	0.008282	0.42434	T	-0.757954	0.00016	T	-0.843271	0.01051	T	0.000131290159326566	0.00001	T	0.714629	0.32694	T	0.09665936	0.22772	0.09581675	0.22741	0.07366605	0.16476	0.11269583	0.27192	-1.765	0.02407	T	.	.	0.057	0.00806	B	.;.;.;.	.;.;.;.	0.254778	0.06335	2.799	0.48566796264938689	0.04064	0.01605	0.05203	N	AEFDGBI	0.068685	0.13561	N	-1.37053670912072	0.02918	0.129567	-1.36125860524623	0.03675	0.1719123	0.998552506792226	0.37186	0.497415	0.19182	0	0.547309	0.14657	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.02	-2.58	0.05866	-0.003000	0.12836	0.772000	0.21405	-0.191000	0.09375	0.002000	0.15269	0.207000	0.23614	0.627000	0.32078	0.1008:0.2334:0.6658:0.0	16.621	0.84784	807	0.43470	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;.;.	MICU1	Testis	PSAP|PSAP|PSAP|PSAP	Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.04762	4190.11	34	chr10	71803310	.	G	C	4190.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.634;DP=1125;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.35;ReadPosRankSum=0.393;SOR=0.691	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1263	19	0	2	0
chr10	71806223	71806223	C	T	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171933:exon10:c.C1400T:p.P467L	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	.	0	1503	19	0	0	19	0.00628099	.	.	752240	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.46	T	1.0	D	0.993	D	0.000	D	1.000	D	-0.035	N	0.24	T	-0.763	T	0.206	T	0.871	5.467	35	5.13	2.400	7.786	18.577	0.335	.	.	0.00279553	0.0030	0	0.0008	0	0	0.0003	0	0.0104	0.0009573	148	154602	rs373230009	0.0006	0.0007	0.0004	0.0009	0.0093	0.0006	0.0006	0.0087	0.0085	0	0.0003	0	0	0	0.0042	6.486e-05	0.0009	0.0093	0.0004	0.0004	0.0003	0.0004	0.0083	0.0003	0.0003	0.0063	0.0055	2.406e-05	0	0.0003	0	0.0006	0	0.0034	5.881e-05	0.0005	0.0083	0.03	0.45393	D	0.003	0.76473	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.725	0.01781	N	0.24	0.59583	T	-2.23	0.50012	N	0.972	0.98268	-0.7626	0.57264	T	0.206	0.56485	T	10	0.010227531	0.00228	T	.	.	.	0.335	0.65718	0.44	0.49484	0.865627351664	0.86432	0.6866559061639508	0.68605	0.296736206452	0.32059	0.759593367577	0.75868	T	0.02799	0.58006	T	-0.0948292	0.37278	T	0.0975471	0.76745	D	0.0676290445450662	0.08315	T	0.958604	0.84374	D	0.4887914	0.66431	0.3310389	0.58967	0.45600507	0.64422	0.29566696	0.55598	-5.729	0.47793	T	.	.	0.148	0.38390	B	.;.;.;.	.;.;.;.	5.020994	0.83447	28.0	0.99899295886099915	0.97124	0.92335	0.55474	D	AEFDGBHCI	0.948946	0.96110	D	0.420765350813866	0.62566	4.47446	0.484984844637473	0.66993	5.025127	1.0	0.98316	0.56387	0.32371	0	0.491513	0.07743	0	0.503968	0.08637	0	0.562822	0.20929	0	.	.	5.13	5.13	0.69729	7.869000	0.85513	4.840000	0.45276	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	18.577	0.91115	791	0.46100	Cadherin-like;Cadherin-like;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2334.98	38	chr10	71806223	.	C	T	2334.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.110e-01;DP=814;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.83;ReadPosRankSum=0.875;SOR=0.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1123	20	0	1	0
chr10	71810506	71810506	C	G	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171933:exon15:c.C2294G:p.A765G	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	.	0	1502	19	0	1	20	0.00628515	.	.	229902	Usher_syndrome_type_1|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_12|Usher_syndrome_type_1D|not_specified	MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MedGen:C3661900|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.43	T	0.002	B	0.002	B	0.001	N	1.000	D	1.61	L	0.37	T	-0.956	T	0.158	T	0.434	2.925	15.75	5.67	2.686	3.213	19.761	0.132	.	.	0.00279553	0.0014	0	0.0005	0.0001	0	7.506e-05	0	0.0098	0.0012484	193	154602	rs188966938	0.0007	0.0007	0.0004	0.0009	0.0095	0.0006	0.0006	0.0090	0.0087	0	0.0002	0	0	0	0.0042	6.386e-05	0.0009	0.0095	0.0003	0.0003	0.0003	0.0004	0.0083	0.0003	0.0002	0.0063	0.0055	0	0	0.0003	0	0.0002	0	0.0034	5.882e-05	0.0005	0.0083	0.09	0.31987	T	0.0	0.92824	D	0.002	0.09854	B	0.002	0.06944	B	0.001150	0.40056	N	0.207044	0.999995	0.58761	D	1.61	0.41143	L	0.37	0.57729	T	-1.71	0.40660	N	0.593	0.62696	-0.9556	0.39988	T	0.158	0.49094	T	10	0.008377165	0.00190	T	.	.	.	0.132	0.35948	.	.	0.745349639804	0.74305	0.34334484325574466	0.34248	0.2100548403	0.23481	0.697732031345	0.66816	T	0.007964	0.42196	T	-0.391431	0.02633	T	-0.327648	0.41731	T	0.028044143335165	0.01694	T	0.880112	0.59716	D	0.12058347	0.28372	0.2079746	0.45079	0.13911167	0.32146	0.22425441	0.47330	-6.718	0.53092	T	.	.	0.237	0.47128	B	.;.;.;.	.;.;.;.	3.218561	0.43840	21.8	0.99538915635684622	0.70398	0.86109	0.45329	D	AEFDBCI	0.538368	0.55579	D	-0.0761480775168596	0.38442	2.251477	0.0955146348702413	0.44321	2.716241	0.999999999795303	0.74766	0.554377	0.28877	0	0.514364	0.08380	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.67	5.67	0.87673	3.284000	0.51413	7.651000	0.63703	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.799000	0.37691	0.0:1.0:0.0:0.0	19.761	0.96312	785	0.46916	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1266.98	36	chr10	71810506	.	C	G	1266.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.538;DP=881;ExcessHet=0.0000;FS=1.334;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.68;ReadPosRankSum=-1.071e+00;SOR=0.830	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1427	20	0	1	0
chr10	71811550	71811550	G	A	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171933:exon17:c.G2518A:p.A840T	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	.	0	1503	19	0	0	19	0.00628099	.	.	229903	Usher_syndrome_type_1|Autosomal_recessive_nonsyndromic_hearing_loss_12|not_provided|Usher_syndrome_type_1D|not_specified	MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636|MedGen:C3661900|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.016	B	0.002	B	0.000	D	1.000	D	1.245	L	0.24	T	-0.922	T	0.145	T	0.354	2.430	14.08	4.46	1.280	5.688	10.628	0.133	.	7.8e-05	0.00299521	0.0015	0	0.0005	0.0007	0	7.494e-05	0	0.0099	0.0013066	202	154602	rs369395479	0.0007	0.0007	0.0005	0.0010	0.0095	0.0007	0.0007	0.0090	0.0088	5.974e-05	0.0002	0	0.0005	0	0.0042	0.0001	0.0009	0.0095	0.0004	0.0004	0.0003	0.0004	0.0085	0.0003	0.0003	0.0064	0.0057	4.817e-05	0	0.0003	0	0.0004	0	0.0034	8.824e-05	0.0009	0.0085	0.316	0.13744	T	0.108	0.38891	T	0.016	0.17332	B	0.002	0.06944	B	0.000051	0.53742	D	0.072195	0.999902	0.50806	D	1.295	0.32453	L	0.24	0.59583	T	-1.79	0.42191	N	0.45	0.48780	-0.9216	0.45334	T	0.145	0.46859	T	10	0.008137375	0.00185	T	.	.	.	0.133	0.36157	.	.	0.777339287198	0.77529	0.7024125172313511	0.70182	0.174077167911	0.19599	0.457005262375	0.32900	T	0.016806	0.59237	T	-0.387317	0.02800	T	-0.321596	0.42400	T	0.0386353492225009	0.03444	T	0.816218	0.47186	T	0.051676724	0.09526	0.13800593	0.32971	0.04183747	0.06234	0.12340108	0.29756	-6.772	0.53299	T	.	.	0.107	0.20117	B	.;.;.;.	.;.;.;.	3.374855	0.46651	22.3	0.98528525038825709	0.42558	0.84584	0.43667	D	AEFDBCI	0.610479	0.59930	D	-0.255459950207905	0.30885	1.726467	-0.103550876891836	0.35246	2.036932	0.99999752825339	0.74766	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.562822	0.20929	0	.	.	5.36	4.46	0.53567	5.805000	0.68809	8.594000	0.77699	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.895000	0.43227	0.0701:0.0:0.7984:0.1315	10.628	0.44712	787	0.46738	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	2777.98	36	chr10	71811550	.	G	A	2777.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=888;ExcessHet=0.0000;FS=1.858;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.43;ReadPosRankSum=1.05;SOR=0.593	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1575	20	0	1	0
chr10	71814971	71814971	A	C	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171936:exon4:c.A344C:p.D115A	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	.	0	1488	34	0	0	34	0.0112957	.	.	55244	Autosomal_recessive_nonsyndromic_hearing_loss_12|Usher_syndrome_type_1D|Galactosylceramide_beta-galactosidase_deficiency|Metachromatic_leukodystrophy|not_provided|Combined_PSAP_deficiency|Atypical_Gaucher_Disease|not_specified|Usher_syndrome_type_1	MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200,Orphanet:487|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100,Orphanet:512|MedGen:C3661900|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721,Orphanet:139406|MedGen:CN239218|MedGen:CN169374|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.167	B	0.107	B	0.005	N	1.000	D	1.1	L	-1.27	T	-0.607	T	0.099	T	0.135	3.086	16.31	4.15	1.996	6.289	10.470	0.269	.	0.0027	0.0071885	0.0034	0.0158	0.0019	0	0	0.0008	0.0068	0.0117	0.0027943	432	154602	rs140463385	0.0015	0.0015	0.0012	0.0017	0.0141	0.0014	0.0014	0.0130	0.0126	0.0141	0.0017	0.0046	5.041e-05	0	0.0076	0.0003	0.0029	0.0102	0.0046	0.0046	0.0045	0.0046	0.0134	0.0043	0.0042	0.0125	0.0121	0.0134	0	0.0029	0.0035	0.0004	0	0.0068	0.0003	0.0038	0.0106	0.016	0.51853	D	0.007	0.69154	D	0.03	0.20002	B	0.022	0.19653	B	0.005483	0.32753	N	0.282649	0.813289	0.35703	D	0.805	0.20218	L	-1.27	0.79277	T	-1.14	0.29323	N	0.146	0.16308	-0.6071	0.64523	T	0.099	0.36907	T	10	0.008310497	0.00189	T	.	.	.	0.269	0.58381	.	.	0.882921449578	0.88177	0.40577768708480505	0.40493	0.179719734913	0.20215	0.346304118633	0.17376	T	0.024742	0.58764	T	-0.410882	0.01961	T	-0.351304	0.39055	T	0.0259886223339784	0.01405	T	0.823018	0.50622	T	0.13823578	0.31977	0.19175486	0.42652	0.16637209	0.36968	0.19290687	0.42829	-3.983	0.28678	T	.	.	0.098	0.18580	B	.;.;.;.	.;.;.;.	3.925396	0.57339	23.8	0.9891917616852629	0.48527	0.94266	0.60621	D	AEFDGBHCI	0.710844	0.66447	D	0.0308156560726651	0.43262	2.622502	0.194889263447921	0.49566	3.158281	0.99999999998484	0.74766	0.498214	0.20090	0	0.572659	0.20510	0	0.440796	0.06475	0	0.711	0.71501	0	.	.	5.28	4.15	0.47978	6.294000	0.72722	8.697000	0.78095	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.9239:0.0:0.0761:0.0	10.470	0.43817	782	0.47442	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1078.98	38	chr10	71814971	.	A	C	1078.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.255e+00;DP=791;ExcessHet=0.0000;FS=4.349;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=-1.041e+00;SOR=0.355	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1195	20	0	1	0
chr10	71819866	71819866	G	A	exonic	PSAP	.	nonsynonymous SNV	PSAP:NM_001042466:exon10:c.C1046T:p.S349L	Combined SAP deficiency, Autosomal recessive;Gaucher disease, atypical;Krabbe disease, atypical, Autosomal recessive;Metachromatic leukodystrophy due to SAP-b deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1421649	Sphingolipid_activator_protein_1_deficiency	MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900,Orphanet:512	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	0.124	B	0.052	B	0.147	N	1.000	N	1.52	L	-2.03	D	-0.780	T	0.444	T	0.136	1.994	12.62	1.68	0.050	1.090	1.586	0.152	0.0594954341892	.	.	1.673e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs768846459	1.573e-05	1.573e-05	1.497e-05	1.65e-05	5.797e-05	1.048e-05	8.75e-06	2.194e-05	1.43e-05	0	0	0	5.038e-05	0	0	1.349e-05	1.656e-05	5.797e-05	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.035	0.43708	D	0.127	0.35205	T	0.124	0.26825	B	0.052	0.25551	B	0.146525	0.02928	N	1.606390	1	0.08975	N	1.93	0.51437	L	-2.03	0.85613	D	-3.06	0.63090	D	0.218	0.24883	-0.7796	0.56325	T	0.444	0.78093	T	10	0.20212796	0.36321	T	0.059495	0.67683	D	0.152	0.39956	.	.	0.555119849871	0.55171	0.362792876508276	0.36193	0.0402348126993	0.04305	0.300765812397	0.10515	T	0.860001	0.96885	D	-0.226801	0.17075	T	-0.360907	0.37948	T	0.0733719123868803	0.09116	T	0.756624	0.37993	T	0.11136769	0.26318	0.1020286	0.24444	0.11136769	0.26318	0.1020286	0.24443	-7.754	0.59382	D	0.3457073506123161	0.44322	0.079	0.09191	B	.;.	.;.	1.463079	0.18861	13.96	0.97365220187607304	0.33593	0.32949	0.24710	N	AEFBCI	0.480470	0.52217	N	-0.914647339755795	0.10498	0.5019893	-0.950286891908985	0.10915	0.5529208	0.999541565168672	0.40300	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.67	1.68	0.23219	1.115000	0.30823	2.894000	0.35409	-0.135000	0.12811	0.095000	0.22689	0.788000	0.26838	0.001000	0.02609	0.2071:0.1174:0.4341:0.2414	1.586	0.02484	778	0.48011	Saposin-like type B, region 1|Saposin B type domain|Saposin B type domain;Saposin-like type B, region 1|Saposin B type domain|Saposin B type domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1744.98	33	chr10	71819866	.	G	A	1744.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.054;DP=878;ExcessHet=0.0000;FS=5.989;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.66;ReadPosRankSum=1.17;SOR=1.287	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1336	20	0	1	0
chr10	72007990	72007990	C	G	exonic	CHST3	.	nonsynonymous SNV	CHST3:NM_004273:exon3:c.C959G:p.T320S,	Spondyloepiphyseal dysplasia with congenital joint dislocations, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	525571	Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations	MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095,Orphanet:263463	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.75	T	0.0	B	0.002	B	0.056	N	1.000	N	-0.605	N	-1.41	T	-0.982	T	0.182	T	0.037	-0.022	3.900	-0.039	0.007	-0.301	14.975	0.181	0.00907511464996	.	0.000798722	0.0004	0.0056	0	0	0	0	0	0	0.0001035	16	154602	rs535309495	7.515e-05	7.456e-05	8.756e-05	6.239e-05	0.0026	6.326e-05	5.853e-05	0.0022	0.0020	0.0026	0.0001	0	0	0	0.0004	4.636e-06	0.0002	0	0.0007	0.0007	0.0008	0.0006	0.0024	0.0006	0.0005	0.0020	0.0019	0.0024	0	0.0003	0	0	0	0	0	0.0005	0	0.749	0.03598	T	0.872	0.03296	T	0.0	0.02946	B	0.002	0.06944	B	0.055533	0.22635	N	0.500574	0.999663	0.20745	N	-0.01	0.05129	N	-1.41	0.80560	T	-0.72	0.20358	N	0.023	0.00407	-0.9817	0.34608	T	0.182	0.53011	T	10	0.0066131055	0.00150	T	0.009075	0.23869	T	0.181	0.45247	0.421	0.46365	0.77276793258	0.77067	0.5659236908972333	0.56520	0.590872984111	0.54534	0.375748425722	0.21653	T	0.123432	0.44780	T	-0.548984	0.00296	T	-0.564404	0.15967	T	0.00163683618991387	0.00017	T	0.521348	0.16985	T	0.054346852	0.10415	0.042262513	0.04993	0.054346852	0.10414	0.042262513	0.04993	-4.593	0.32083	T	0.13460844972235658	0.14556	0.069	0.03197	B	.	.	0.958094	0.13348	9.849	0.70425843119647913	0.09292	0.20149	0.20933	N	AEFDBI	0.081799	0.16557	N	-0.952097698146207	0.09646	0.457408	-0.795789214588763	0.14598	0.7635802	0.999943240256363	0.47345	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.491896	0.07777	0	.	.	5.55	-0.0392	0.13205	-0.302000	0.08259	0.430000	0.18314	-0.218000	0.08083	0.004000	0.16614	0.962000	0.29361	0.989000	0.64315	0.1072:0.3395:0.5533:0.0	14.975	0.70917	722	0.55239	Sulfotransferase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1136.98	36	chr10	72007990	.	C	G	1136.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=845;ExcessHet=0.0000;FS=1.881;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.58;ReadPosRankSum=0.752;SOR=0.990	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr10	72067625	72067625	C	T	exonic	SPOCK2	.	nonsynonymous SNV	SPOCK2:NM_001244950:exon7:c.G697A:p.G233S	.	.	421	1098	1	0	2	3	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.01	B	0.004	B	0.307	N	1.000	N	0.665	N	0.77	T	-1.053	T	0.072	T	0.026	0.012	4.077	-1.14	-0.384	0.538	6.085	0.020	0.0111352852141	0.0002	0.000599042	0.0003	0.0010	0.0003	0.0015	0	7.544e-05	0.0022	6.067e-05	0.0002458	38	154602	rs142091068	0.0001	0.0001	0.0001	0.0001	0.0017	0.0001	9.974e-05	0.0014	0.0012	0.0011	0.0002	0	0.0017	0	0.0002	3.867e-05	0.0002	8.117e-05	0.0004	0.0004	0.0005	0.0004	0.0017	0.0003	0.0003	0.0009	0.0007	0.0010	0	0.0010	0	0.0017	0	0	2.941e-05	0	0	0.844	0.02782	T	0.857	0.03467	T	0.01	0.15535	B	0.004	0.10090	B	0.307163	0.03991	N	1.374110	1	0.08975	N	0.29	0.10111	N	0.77	0.49642	T	1.0	0.01408	N	0.051	0.02272	-1.0530	0.13574	T	0.072	0.29130	T	10	0.0065487027	0.00148	T	0.011135	0.28436	T	0.020	0.03691	.	.	0.151262610727	0.14761	0.28757291108624183	0.28670	0.279534579081	0.30444	0.307676106691	0.11556	T	0.054194	0.29655	T	-0.673341	0.00052	T	-0.746768	0.03613	T	0.0018391418187515	0.00019	T	0.133787	0.01113	T	0.02409463	0.01207	0.039948076	0.04207	0.02409463	0.01207	0.039948076	0.04206	-1.285	0.01377	T	.	.	0.053	0.00368	B	.;.;.	.;.;.	0.365707	0.07381	4.005	0.30964145654789332	0.01721	0.09739	0.15427	N	AEFDGBI	0.044745	0.07236	N	-1.16953755804671	0.05465	0.2492448	-1.11962096023483	0.07326	0.3559011	0.999625430800312	0.41093	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.82	-1.14	0.09241	0.568000	0.23326	0.928000	0.22757	-0.111000	0.15049	0.651000	0.28180	0.998000	0.33993	0.016000	0.10718	0.0:0.2506:0.2213:0.5281	6.085	0.19188	851	0.35303	SPARC/Testican, calcium-binding domain;SPARC/Testican, calcium-binding domain;SPARC/Testican, calcium-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	601.98	33	chr10	72067625	.	C	T	601.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=743;ExcessHet=0.0000;FS=3.757;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=0.608;SOR=0.588	GT:AD:DP:GQ:PL	0/1:30,26:56:99:616,0,673	20	0	1	0
chr10	72213285	72213285	C	T	exonic	ASCC1	.	nonsynonymous SNV	ASCC1:NM_001198798:exon2:c.G14A:p.R5H	Barrett esophagus/esophageal adenocarcinoma	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.982	D	0.000	D	1.000	D	2.16	M	2.17	T	0.170	D	0.568	D	0.714	4.768	26.8	5.36	2.657	4.294	17.213	0.183	0.0719611719894	.	.	3.298e-05	0	0	0	0	6e-05	0	0	2.59e-05	4	154602	rs751027189	8.217e-06	9.577e-06	6.814e-06	9.634e-06	0.0002	4.38e-06	3.46e-06	3.1e-06	2.24e-06	0	0	0	2.522e-05	0	0.0002	7.202e-06	3.314e-05	0	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.016	0.91255	D	0.043	0.72224	D	1.0	0.90584	D	0.98	0.74843	D	0.000000	0.84330	D	0.000000	0.999713	0.48481	D	2.435	0.70606	M	1.36	0.74371	T	-2.81	0.81350	D	0.709	0.71232	0.170	0.85404	D	0.568	0.84331	D	10	0.49412188	0.61165	T	0.071961	0.71408	D	0.183	0.45592	0.365	0.37199	0.91155186707	0.91066	0.584342477033977	0.58363	0.774521678833	0.64954	0.561922550201	0.47538	T	0.042121	0.45088	T	0.0633551	0.60034	T	0.022357	0.71782	D	0.975217819213867	0.70837	D	0.969903	0.89155	D	0.3248336	0.55044	0.20501535	0.44652	0.3248336	0.55044	0.20501535	0.44651	-9.04	0.67955	D	.	.	0.222	0.66208	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.608593	0.92513	32	0.99944703129828949	0.99886	0.89801	0.50504	D	AEFBI	0.760592	0.69856	D	0.72554509600811	0.81309	7.491615	0.702054133888203	0.82533	7.791024	0.99999999843401	0.74766	0.706298	0.61202	0	0.662677	0.63036	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	4.559000	0.60505	7.544000	0.60141	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	17.213	0.86818	808	0.43318	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1159.98	42	chr10	72213285	.	C	T	1159.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.230e-01;DP=871;ExcessHet=0.0000;FS=3.942;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.47;ReadPosRankSum=0.146;SOR=0.402	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	20	0	1	0
chr10	73047065	73047065	G	A	exonic	P4HA1	.	nonsynonymous SNV	P4HA1:NM_000917:exon8:c.C937T:p.H313Y	.	.	.	.	.	.	.	.	.	.	.	3191677	P4HA1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.000	D	0.787	D	-0.535	N	1.0	T	-1.003	T	0.025	T	0.252	0.545	6.949	5.94	2.819	4.996	7.811	0.084	.	0.0033	0.00459265	0.0012	0.0123	0.0011	0	0	0	0	6.059e-05	0.0011319	175	154602	rs144541240	0.0003	0.0003	0.0004	0.0003	0.0123	0.0003	0.0003	0.0113	0.0109	0.0123	0.0008	0	0	0	0.0005	6.297e-06	0.0006	1.16e-05	0.0035	0.0035	0.0037	0.0034	0.0126	0.0033	0.0032	0.0117	0.0114	0.0126	0	0.0004	0	0	0	0	5.881e-05	0.0019	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.000036	0.55875	D	0.163921	0.787021	0.34338	D	0.25	0.09762	N	1.0	0.42502	T	-0.04	0.08653	N	0.292	0.41459	-1.0029	0.29080	T	0.025	0.10866	T	10	0.007511109	0.00171	T	.	.	.	0.084	0.24469	.	.	0.262679179196	0.25893	0.5401209587074706	0.53937	.	.	0.716003000736	0.69464	T	0.270082	0.64233	T	-0.528989	0.00389	T	-0.521601	0.20132	T	0.014816046732765	0.00312	T	0.940006	0.77317	D	0.04110036	0.05991	0.072882935	0.15774	0.04110036	0.05990	0.072882935	0.15773	-2.328	0.04733	T	.	.	0.065	0.05188	B	.;.;.;.;.	.;.;.;.;.	2.985967	0.39851	21.0	0.84906744987173066	0.15568	0.88001	0.47743	D	AEFBI	0.432638	0.49443	N	-0.278393930328633	0.29985	1.667733	0.0254583889037885	0.40901	2.448394	0.999960900135327	0.48965	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.94	5.94	0.96165	4.249000	0.58555	11.788000	0.96293	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1886:0.0:0.8114:0.0	7.811	0.28393	883	0.28872	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1039.98	33	chr10	73047065	.	G	A	1039.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.143;DP=794;ExcessHet=0.0000;FS=0.825;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=0.640;SOR=0.818	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr10	73114436	73114436	T	C	exonic	NUDT13	.	nonsynonymous SNV	NUDT13:NM_001283014:exon2:c.T71C:p.V24A	.	.	447	1068	7	0	0	7	0.00326645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.921	D	0.005	N	1.000	D	0.895	L	1.5	T	-0.782	T	0.179	T	0.528	3.793	19.26	5.28	2.112	3.917	11.870	0.186	.	0.0017	0.00159744	0.0038	0.0007	0.0007	0.0001	0.0077	0.0031	0.0022	0.0114	0.0033958	525	154602	rs143864075	0.0030	0.0030	0.0027	0.0033	0.0116	0.0029	0.0029	0.0110	0.0107	0.0002	0.0007	7.921e-05	0	0.0076	0.0025	0.0025	0.0026	0.0116	0.0024	0.0025	0.0023	0.0026	0.0085	0.0022	0.0021	0.0065	0.0057	0.0004	0	0.0008	0	0	0.0064	0	0.0034	0.0014	0.0085	0.006	0.72154	D	0.005	0.74150	D	0.982	0.70673	D	0.591	0.65636	P	0.005007	0.33181	N	0.234003	0.989375	0.81001	D	2.215	0.62545	M	1.5	0.51714	T	-1.78	0.42001	N	0.514	0.57006	-0.7824	0.56167	T	0.179	0.52443	T	10	0.0066177845	0.00150	T	.	.	.	0.186	0.46104	.	.	0.466907325337	0.46318	0.7253600595327329	0.72480	0.290016544937	0.31410	0.574519753456	0.49315	T	0.038154	0.24739	T	-0.348951	0.04793	T	-0.264625	0.48360	T	0.0355969982717661	0.02910	T	0.868313	0.57032	D	0.11692703	0.27573	0.121260874	0.29258	0.11692703	0.27573	0.121260874	0.29258	-2.717	0.08092	T	.	.	0.520	0.68892	A	.;.;.;.	.;.;.;.	4.171483	0.62732	24.5	0.99904461876868911	0.97576	0.84122	0.43206	D	AEFBI	0.451218	0.50529	N	0.433388987648342	0.63268	4.557263	0.459710388389453	0.65344	4.811799	0.999843422715294	0.43971	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.28	5.28	0.74118	4.232000	0.58445	7.656000	0.63963	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:0.0:1.0	11.870	0.51793	864	0.32732	.;.;.;.	.	.	.	.	chr10:74874194	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1315.98	51	chr10	73114436	.	T	C	1315.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.640;DP=960;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=-2.340e-01;SOR=0.700	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,108,1620	20	0	1	0
chr10	73240981	73240981	G	0	exonic	FAM149B1	.	.	.	.	.	431	911	149	5	26	185	0.0802625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	11177.05	95	chr10	73240981	.	G	A,*	11177.05	.	AC=10,2;AF=0.238,0.048;AN=42;BaseQRankSum=1.81;DP=1346;ExcessHet=0.7800;FS=0.000;InbreedingCoeff=0.0667;MLEAC=10,2;MLEAF=0.238,0.048;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=0.347;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0,0:33:99:.:.:0,99,1083,99,1083,1083	11	2	6	0
chr10	73323084	73323084	G	A	exonic	CFAP70	.	nonsynonymous SNV	CFAP70:NM_001350934:exon8:c.C425T:p.A142V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.056	B	0.024	B	0.657	N	0.850	N	0.14	N	1.96	T	-1.011	T	0.034	T	0.109	0.707	7.767	-3.5	-0.658	-0.546	6.164	0.009	0.0044162599698	.	.	8.293e-06	0	0	0	0	0	0	6.269e-05	6.5e-06	1	154602	rs777869852	6.851e-07	6.84e-07	0	1.377e-06	1.166e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.166e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.13654	T	0.306	0.19972	T	0.001	0.07471	B	0.001	0.04355	B	0.656899	0.05957	N	1.143820	1	0.28506	N	.	.	.	1.96	0.22270	T	-0.92	0.24676	N	0.101	0.08366	-1.0110	0.26604	T	0.034	0.14726	T	10	0.01594308	0.00335	T	0.004416	0.10781	T	0.009	0.00846	0.237	0.16760	0.0297737177859	0.01360	0.24483438169005461	0.24397	0.297358880734	0.32117	0.301736861467	0.10659	T	0.009737	0.08845	T	-0.398881	0.02355	T	-0.710111	0.05289	T	0.0288257626478234	0.01811	T	0.305069	0.05837	T	0.03883387	0.05250	0.053231195	0.08925	0.03883387	0.05250	0.053231195	0.08925	-5.26	0.39546	T	.	.	0.074	0.05103	B	.	.	0.920976	0.12960	9.466	0.65428300388729943	0.07770	0.05042	0.10828	N	AEFDBHCI	0.042217	0.06523	N	-1.28706635486717	0.03830	0.1718098	-1.24021041461966	0.05278	0.2510757	0.0128041042920385	0.12377	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.81	-3.5	0.04411	-0.459000	0.06805	-0.692000	0.07835	-0.801000	0.03157	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.0:0.3278:0.3296:0.3426	6.164	0.19598	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05556	112.34	48	chr10	73323084	.	G	A	112.34	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-1.819e+00;DP=1153;ExcessHet=0.1072;FS=137.955;InbreedingCoeff=-0.0924;MLEAC=2;MLEAF=0.056;MQ=60.00;MQRankSum=0.00;QD=0.56;ReadPosRankSum=-9.130e-01;SOR=8.015	GT:AD:DP:GQ:PL	0/0:66,0:66:51:0,51,1190	16	0	2	3
chr10	73426009	73426009	G	A	exonic	MSS51	.	nonsynonymous SNV	MSS51:NM_001024593:exon5:c.C871T:p.P291S,	.	.	434	1086	2	0	0	2	0.000919963	.	.	2289978	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.991	D	0.634	P	0.000	N	0.999	D	2.045	M	0.17	T	-0.717	T	0.230	T	0.335	4.134	21.3	3.62	0.877	6.234	10.045	0.300	0.0337633304062	.	.	8.24e-05	0	0.0002	0	0	0.0001	0	0	8.41e-05	13	154602	rs781742879	0.0001	0.0001	0.0001	0.0001	0.0042	9.603e-05	9.082e-05	0.0029	0.0024	8.961e-05	0.0004	3.826e-05	0	0	0.0042	8.993e-05	0.0002	3.478e-05	0.0001	0.0001	0.0001	9.399e-05	0.0003	7.086e-05	5.744e-05	0.0001	8.278e-05	7.218e-05	0	0.0003	0	0	0	0.0034	0.0001	0.0005	0	0.011	0.55530	D	0.032	0.53426	D	0.991	0.64070	D	0.634	0.51870	P	0.000005	0.62929	N	0.108809	0.999078	0.46009	D	1.825	0.47900	L	0.17	0.60485	T	-3.42	0.67241	D	0.456	0.49328	-0.7167	0.59624	T	0.230	0.59558	T	9	0.41713965	0.56617	T	0.033763	0.55213	D	0.300	0.62068	.	.	0.601816880433	0.59863	0.7873879247802962	0.78690	0.271172916804	0.29639	0.495405733585	0.38188	T	0.225692	0.59049	T	-0.234756	0.16025	T	-0.273266	0.47488	T	0.205159063000786	0.20697	T	0.708829	0.31953	T	0.22452164	0.45095	0.21351343	0.45865	0.22452164	0.45095	0.21351343	0.45864	-8.042	0.61356	D	.	.	0.113	0.22318	B	.;.	.;.	4.000824	0.58953	24.0	0.99895411370634546	0.96819	0.98153	0.80057	D	AEFBI	.	.	.	0.457846958535246	0.64651	4.724339	0.447460407033298	0.64554	4.71321	0.788160591720649	0.23967	0.651	0.46895	0	0.577304	0.33150	0	0.65145	0.50148	0	0.491896	0.07777	0	.	.	5.45	3.62	0.40616	6.334000	0.72897	8.650000	0.77929	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1617:0.0:0.8383:0.0	10.045	0.41354	829	0.39537	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3192.98	37	chr10	73426009	.	G	A	3192.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.626;DP=977;ExcessHet=0.0000;FS=0.486;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.07;ReadPosRankSum=-5.100e-01;SOR=0.635	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1361	20	0	1	0
chr10	73521009	73521009	T	G	exonic	USP54	.	nonsynonymous SNV	USP54:NM_001320437:exon16:c.A2210C:p.E737A	.	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.996	D	0.000	U	1.000	D	1.995	M	1.12	T	-0.638	T	0.245	T	0.917	4.029	20.7	5.57	2.248	7.174	16.035	0.263	0.0307538505052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.152	0.32249	T	1.0	0.90584	D	0.996	0.84481	D	0.000007	0.62929	U	0.000000	1.000	0.81001	D	2.395	0.69210	M	1.12	0.38718	T	-2.11	0.48020	N	0.895	0.89465	-0.6379	0.63235	T	0.245	0.61366	T	10	0.81323636	0.80587	D	0.030754	0.52999	D	0.263	0.57612	0.235	0.16457	0.532311620844	0.52880	0.17990279742866142	0.17909	0.691864568728	0.60625	0.622691035271	0.56109	T	0.249481	0.61945	T	0.283438	0.81608	D	0.169362	0.81372	D	0.976254940032959	0.71296	D	0.906609	0.67067	D	0.24513741	0.47469	0.2571397	0.51425	0.24513741	0.47469	0.2571397	0.51425	-11.315	0.81357	D	.	.	0.268	0.50269	B	.	.	4.441989	0.68969	25.3	0.9967763976983347	0.79043	0.98264	0.81063	D	AEFDBI	0.837994	0.75556	D	0.764274745896374	0.83832	8.121662	0.75414434197309	0.86466	8.898299	0.999999677159184	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.57	5.57	0.84021	7.166000	0.77118	6.261000	0.55345	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.035	0.80419	653	0.62661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1263.98	36	chr10	73521009	.	T	G	1263.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.160e-01;DP=808;ExcessHet=0.0000;FS=1.561;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.81;ReadPosRankSum=-1.590e-01;SOR=0.888	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr10	73746863	73746863	C	T	exonic	SEC24C	.	nonsynonymous SNV	SEC24C:NM_198597:exon2:c.C31T:p.P11S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.155	B	0.127	B	0.012	N	1.000	D	0.83	L	-1.05	T	-0.597	T	0.317	T	0.259	2.895	15.65	4.9	2.753	2.118	17.629	0.156	0.0219502256734	7.7e-05	.	6.604e-05	0.0002	0	0	0	0	0.0011	0.0003	5.17e-05	8	154602	rs146510673	1.507e-05	1.505e-05	1.09e-05	1.928e-05	0.0002	9.87e-06	8.43e-06	0.0001	0.0001	0	0	0	2.527e-05	0	0	9.001e-07	3.315e-05	0.0002	1.971e-05	1.97e-05	1.284e-05	2.689e-05	7.234e-05	5.24e-06	2.45e-06	1.918e-05	1.032e-05	7.234e-05	0	0	0	0	0	0	0	0	0	0.203	0.20154	T	0.183	0.29153	T	0.155	0.28155	B	0.127	0.32738	B	0.012270	0.29231	N	0.411905	0.998973	0.81001	D	0.865	0.21413	L	-1.05	0.76690	T	-2.35	0.51968	N	0.203	0.22486	-0.5974	0.64923	T	0.317	0.68682	T	10	0.12895438	0.24534	T	0.02195	0.44785	T	0.156	0.40720	.	.	0.460791969852	0.45704	0.4355990136964781	0.43476	0.0117517464384	0.01108	0.388287931681	0.23428	T	0.198194	0.55510	T	-0.242198	0.15070	T	-0.289485	0.45826	T	0.0537927190608437	0.06154	T	0.742826	0.36203	T	0.15906781	0.35752	0.13984601	0.33353	0.15906781	0.35751	0.13984601	0.33352	-5.03	0.37164	T	.	.	0.069	0.03266	B	.;.	.;.	2.645206	0.34426	19.62	0.98877453700131457	0.47754	0.78169	0.38526	D	AEFDBI	0.204298	0.33075	N	0.0113165832537705	0.42370	2.551553	0.195910777634446	0.49622	3.16322	0.99999282809211	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.85	4.9	0.63643	1.920000	0.39655	4.958000	0.46324	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.8663:0.1337:0.0	17.629	0.88004	615	0.66512	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1267.98	34	chr10	73746863	.	C	T	1267.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.678;DP=814;ExcessHet=0.0000;FS=0.706;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.84;ReadPosRankSum=-3.300e-02;SOR=0.780	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1278	20	0	1	0
chr10	73808354	73808354	C	T	exonic	NDST2	.	nonsynonymous SNV	NDST2:NM_001330107:exon3:c.G35A:p.R12Q	.	.	357	1163	2	0	0	2	0.000859107	.	.	2435815	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.953	D	0.000	D	1.000	D	0.895	L	1.22	T	-0.861	T	0.157	T	0.767	5.768	36	5.38	2.518	7.364	19.125	0.313	0.039805722517	.	.	7.738e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs749299924	3.535e-05	3.967e-05	1.789e-05	5.308e-05	0.0004	2.732e-05	2.47e-05	0.0003	0.0002	0	0	0	0.0001	0	0	0	0.0003	0.0004	4.611e-05	4.598e-05	1.288e-05	8.088e-05	0.0008	2.114e-05	1.53e-05	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0.0006	0.028	0.46129	D	0.063	0.45110	T	0.997	0.70673	D	0.953	0.69275	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.175	0.60977	M	1.22	0.37052	T	-1.28	0.32185	N	0.812	0.80767	-0.8612	0.51177	T	0.157	0.48976	T	10	0.18670097	0.34146	T	0.039806	0.59020	D	0.313	0.63482	0.439	0.49321	0.783810348395	0.78181	0.6036125058950356	0.60292	1.45274477073	0.86197	0.528598546982	0.42836	T	0.349726	0.71754	T	-0.129188	0.31627	T	-0.0891956	0.64222	T	0.261562339211643	0.23383	T	0.957954	0.84201	D	0.32304725	0.54896	0.21535511	0.46121	0.32304725	0.54896	0.21535511	0.46120	-5.498	0.41849	T	.	.	0.12	0.40376	B	.;.;.	.;.;.	5.683538	0.93012	33	0.99951104980697603	0.99944	0.98285	0.81260	D	AEFBCI	.	.	.	0.663411499111875	0.77239	6.63668	0.695147028558361	0.82007	7.662358	0.999999999999779	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.38	5.38	0.77279	7.473000	0.80010	7.723000	0.67399	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.125	0.93365	506	0.75555	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1365.98	39	chr10	73808354	.	C	T	1365.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.71;DP=867;ExcessHet=0.0000;FS=2.468;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=1.65;SOR=1.011	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1262	20	0	1	0
chr10	73816912	73816912	G	A	exonic	CAMK2G	.	nonsynonymous SNV	CAMK2G:NM_001367538:exon15:c.C1054T:p.R352C	.	.	10	1506	6	0	0	6	0.00198807	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0001	0.0008	0	0	0	7.735e-05	0	0.0002	0.0001294	20	154602	rs574340990	7.68e-05	7.798e-05	6.822e-05	8.546e-05	0.0003	6.506e-05	6.084e-05	0.0002	0.0001	0.0003	2.24e-05	0	0	1.897e-05	0.0003	6.935e-05	0.0001	0.0001	0.0001	0.0001	0.0002	9.402e-05	0.0004	9.74e-05	8.255e-05	0.0003	0.0002	0.0004	0	6.537e-05	0	0	0	0	5.881e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2045.98	37	chr10	73816912	.	G	A	2045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.369;DP=882;ExcessHet=0.0000;FS=0.586;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=-5.100e-01;SOR=0.755	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1096	20	0	1	0
chr10	73911598	73911598	G	T	exonic	PLAU	.	nonsynonymous SNV	PLAU:NM_002658:exon2:c.G43T:p.V15L,	Quebec platelet disorder, Autosomal dominant	.	1	1409	105	7	0	119	0.0405175	.	.	316280	Quebec_platelet_disorder	MONDO:MONDO:0011136,MedGen:C1866423,OMIM:601709,Orphanet:220436	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.49	T	0.053	B	0.019	B	0.005	N	0.995	N	0.6	N	-2.24	D	-0.853	T	0.232	T	0.074	1.463	10.84	2.75	0.829	1.279	10.072	0.102	.	0.0078	0.00738818	0.0115	0.0017	0.0058	0	0.0069	0.0120	0.0154	0.0279	0.010375	1604	154602	rs2227580	0.0087	0.0087	0.0077	0.0097	0.0501	0.0086	0.0085	0.0454	0.0435	0.0019	0.0067	0.0185	0	0.0068	0.0501	0.0073	0.0104	0.0281	0.0076	0.0077	0.0079	0.0074	0.0236	0.0073	0.0071	0.0201	0.0188	0.0019	0	0.0061	0.0181	0	0.0047	0.0578	0.0107	0.0123	0.0236	0.322	0.13479	T	0.0	0.92824	D	.	.	.	.	.	.	0.004663	0.33505	N	0.182175	1	0.23414	N	.	.	.	-2.24	0.87194	D	-0.07	0.08033	N	0.051	0.02272	-0.8534	0.51732	T	0.232	0.59867	T	10	0.0038291514	0.00072	T	.	.	.	0.102	0.29158	0.117	0.02508	.	.	0.5124656367934278	0.51168	0.27678225461	0.30148	0.449435532093	0.31867	T	.	.	.	-0.447549	0.01167	T	-0.396052	0.33845	T	0.00947673903922724	0.00122	T	0.487251	0.14908	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27583	B	.;.	.;.	1.692782	0.21567	15.25	0.89963582726528479	0.19259	0.15746	0.19061	N	ALL	0.088594	0.17960	N	-0.679747109664984	0.16599	0.8471829	-0.602636444368169	0.19425	1.042126	0.999999986212794	0.74766	0.789315	0.99827	0	0.552344	0.17405	0	0.768056	0.98339	0	0.56214	0.19341	0	.	.	5.98	2.75	0.31439	0.995000	0.29307	1.024000	0.23428	0.662000	0.56354	0.504000	0.26986	0.441000	0.24904	0.058000	0.15825	0.0:0.2474:0.6074:0.1452	10.072	0.41510	394	0.83065	.;.	MSS51|DUSP8P5|KAT6B	Minor_Salivary_Gland|Testis|Thyroid	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	2874.11	34	chr10	73911598	.	G	T	2874.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.68;DP=923;ExcessHet=0.1072;FS=0.479;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=-7.930e-01;SOR=0.759	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1066	19	0	2	0
chr10	73915328	73915328	T	C	exonic	PLAU	.	nonsynonymous SNV	PLAU:NM_001145031:exon9:c.T997C:p.Y333H	Quebec platelet disorder, Autosomal dominant	.	0	1502	20	0	0	20	0.00661376	.	.	322390	not_provided|Quebec_platelet_disorder|PLAU-related_disorder	MedGen:C3661900|MONDO:MONDO:0011136,MedGen:C1866423,OMIM:601709,Orphanet:220436|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.99	D	0.000	D	1.000	D	1.2	L	1.57	T	-0.964	T	0.104	T	0.437	3.731	18.95	5.74	2.192	2.421	13.994	0.181	0.0175012644965	0.0042	0.00179712	0.0040	0.0009	0.0036	0	0.0015	0.0059	0.0022	0.0017	0.0038227	591	154602	rs72816325	0.0044	0.0044	0.0045	0.0043	0.0087	0.0043	0.0043	0.0068	0.0061	0.0009	0.0051	0.0026	0	0.0019	0.0087	0.0050	0.0046	0.0018	0.0037	0.0037	0.0036	0.0038	0.0090	0.0035	0.0034	0.0078	0.0073	0.0010	0.0033	0.0090	0.0009	0	0.0008	0.0136	0.0051	0.0062	0.0023	0.002	0.72154	D	0.078	0.43344	T	0.975	0.58077	D	0.888	0.63021	P	0.000001	0.62929	D	0.059770	0.999596	0.81001	D	.	.	.	1.57	0.29342	T	-2.79	0.59059	D	0.762	0.76019	-0.9636	0.38488	T	0.104	0.38316	T	10	0.011672348	0.00254	T	0.017501	0.39223	T	0.181	0.45247	.	.	0.645608581404	0.64267	0.8266639616682705	0.82624	1.11676990416	0.78186	0.542473316193	0.44795	T	0.501888	0.82191	D	-0.415029	0.01841	T	-0.366603	0.37285	T	0.014283407089986	0.00284	T	0.845915	0.52533	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.55998	B	.;.	.;.	4.264215	0.64833	24.8	0.99824890712650516	0.90764	0.78720	0.38881	D	AEFDBCI	0.279303	0.39338	N	0.366445293518793	0.59614	4.142188	0.410389783339083	0.62210	4.43282	0.999999894832775	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	2.632000	0.46177	7.928000	0.74873	0.665000	0.62972	0.998000	0.41325	1.000000	0.68203	0.660000	0.32968	0.0:0.0:0.0:1.0	13.994	0.63900	394	0.83065	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1095.98	34	chr10	73915328	.	T	C	1095.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.514;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=-1.944e+00;SOR=0.767	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1311	20	0	1	0
chr10	74111964	74111964	C	T	exonic	VCL	.	nonsynonymous SNV	VCL:NM_014000:exon19:c.C2801T:p.A934V,	Cardiomyopathy, dilated, 1W;Cardiomyopathy, hypertrophic, 15	.	0	1517	5	0	0	5	0.00164528	.	.	54765	not_provided|not_specified|Dilated_cardiomyopathy_1W|Cardiomyopathy|Cardiovascular_phenotype|Hypertrophic_cardiomyopathy_15	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012667,MedGen:C1969639,OMIM:611407,Orphanet:154|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MONDO:MONDO:0013200,MedGen:C2750459,OMIM:613255	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.22	T	0.001	B	0.006	B	0.000	D	1.000	D	0.345	N	1.21	T	-1.099	T	0.004	T	0.369	0.770	8.069	5.28	1.635	2.550	10.335	0.061	.	0.0005	0.0217652	0.0121	0.0007	0.0382	0.0753	0.0324	0.0017	0.0121	0.0020	0.0109572	1694	154602	rs16931179	0.0046	0.0046	0.0049	0.0044	0.0728	0.0046	0.0045	0.0706	0.0697	0.0002	0.0313	0.0010	0.0728	0.0302	0.0009	0.0003	0.0061	0.0022	0.0076	0.0076	0.0055	0.0097	0.0771	0.0072	0.0070	0.0709	0.0684	0.0008	0	0.0165	0	0.0771	0.0337	0	0.0010	0.0057	0.0050	0.275	0.15770	T	0.297	0.20551	T	0.001	0.07471	B	0.006	0.12133	B	0.000157	0.49130	D	0.088708	0.85017	0.81001	D	0	0.06538	N	1.21	0.37230	T	-0.33	0.12472	N	0.085	0.06190	-1.0995	0.04152	T	0.004	0.01159	T	10	0.0017710626	0.00023	T	.	.	.	0.061	0.17616	.	.	.	.	0.33152553619381775	0.33065	0.0468982724462	0.05106	0.445290446281	0.31300	T	0.091517	0.38812	T	-0.481926	0.00721	T	-0.400799	0.33291	T	0.0084181822810174	0.00102	T	0.691931	0.30130	T	0.06426625	0.13619	0.085622184	0.19782	0.059488434	0.12097	0.07702797	0.17119	-4.128	0.25701	T	.	.	0.081	0.08465	B	.	.	2.536864	0.32808	19.15	0.47886843470563639	0.03951	0.82233	0.41492	D	AEFBCI	0.247468	0.36804	N	-0.18239695287995	0.33869	1.926416	0.0461966759324977	0.41888	2.524174	0.999837989462987	0.43792	0.631515	0.41029	0	0.379588	0.06130	0	0.697927	0.64325	0	0.636168	0.56350	0	.	.	6.17	5.28	0.74118	4.375000	0.59318	3.953000	0.40689	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.998000	0.85391	0.1343:0.7988:0.0:0.0668	10.335	0.43028	290	0.88477	.	.	.	.	.	rs16931179	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	2692.98	34	chr10	74111964	.	C	T	2692.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.338e+00;DP=953;ExcessHet=0.0000;FS=1.627;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.41;ReadPosRankSum=1.05;SOR=0.567	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1306	20	0	1	0
chr10	75022094	75022105	GAGGAGGAAGAA	-	exonic	KAT6B	.	nonframeshift deletion	KAT6B:NM_001370135:exon8:c.892_903del:p.E305_E308del	Genitopatellar syndrome, Autosomal dominant;SBBYSS syndrome	.	2	1506	12	2	0	16	0.00528402	.	.	253845	Intellectual_disability|not_provided|not_specified|Genitopatellar_syndrome	Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011640,MedGen:C1853566,OMIM:606170,Orphanet:85201	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0143	.	0.0070	0.0020	0.0032	0.0134	0.0044	0.0085	0.0034	0.0044	0.00073	19	26028	rs201769534	0.0092	0.0093	0.0092	0.0092	0.0108	0.0091	0.0090	0.0102	0.0102	0.0019	0.0048	0.0054	0.0108	0.0052	0.0038	0.0104	0.0082	0.0035	0.0071	0.0071	0.0074	0.0067	0.0111	0.0067	0.0066	0.0104	0.0102	0.0022	0	0.0057	0.0049	0.0093	0.0048	0.0068	0.0111	0.0028	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	827.94	33	chr10	75022093	.	GGAGGAGGAAGAA	G	827.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.527;DP=767;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.27;ReadPosRankSum=0.643;SOR=0.561	GT:AD:DP:GQ:PL	0/1:35,23:58:99:842,0,1374	20	0	1	0
chr10	75058442	75058442	C	T	exonic	DUSP29	.	nonsynonymous SNV	DUSP29:NM_001003892:exon2:c.G73A:p.E25K	.	.	407	1096	19	0	0	19	0.0085934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.013	B	0.015	B	0.409	N	1.000	N	0.895	L	3.52	T	-0.940	T	0.010	T	0.274	0.696	7.717	4.2	1.126	2.274	12.708	0.088	.	0.0061	0.00638978	0.0058	0.0063	0.0044	0	0.0009	0.0081	0.0077	0.0023	0.0060413	934	154602	rs149144570	0.0057	0.0057	0.0057	0.0058	0.0309	0.0056	0.0056	0.0272	0.0257	0.0069	0.0036	0.0103	0	0.0015	0.0309	0.0061	0.0069	0.0024	0.0062	0.0062	0.0063	0.0062	0.0094	0.0059	0.0058	0.0082	0.0077	0.0052	0.0011	0.0094	0.0092	0.0002	0.0004	0.0476	0.0074	0.0114	0.0019	0.14	0.25664	T	0.403	0.14865	T	0.013	0.16609	B	0.015	0.17295	B	0.408525	0.04577	N	1.423790	0.999998	0.08975	N	1.5	0.37844	L	3.52	0.04905	T	-0.2	0.10136	N	0.516	0.54671	-0.9397	0.42664	T	0.010	0.03673	T	10	0.0051972866	0.00113	T	.	.	.	0.088	0.25558	.	.	0.352693368174	0.34879	0.5131266602187011	0.51234	0.524778599701	0.50156	0.335973441601	0.15835	T	0.005079	0.04516	T	-0.569727	0.00222	T	-0.580762	0.14476	T	0.00517743212404494	0.00056	T	.	.	.	0.1254696	0.29413	0.11989663	0.28937	0.1254696	0.29413	0.11989663	0.28936	-4.661	0.32929	T	.	.	0.080	0.07889	B	.	.	1.313447	0.17168	13.00	0.96782459248031616	0.31079	0.65480	0.32752	D	AEFDGBHCI	0.102281	0.20521	N	-0.402137600320031	0.25394	1.378178	-0.277786410872894	0.28832	1.610606	0.999999761661216	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.13	4.2	0.48814	1.591000	0.36275	1.182000	0.24703	0.530000	0.24713	0.813000	0.29893	0.016000	0.20520	0.105000	0.18517	0.0:0.8339:0.1661:0.0	12.708	0.56440	23	0.98420	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1976.98	33	chr10	75058442	.	C	T	1976.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.92;DP=876;ExcessHet=0.0000;FS=2.851;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=1.12;SOR=0.929	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1285	20	0	1	0
chr10	75105791	75105791	G	A	exonic	DUSP13	.	nonsynonymous SNV	DUSP13:NM_001007271:exon3:c.C445T:p.R149W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.988	D	0.606	P	.	.	1.000	N	2.72	M	0.11	T	-0.735	T	0.281	T	0.316	2.881	15.60	1.8	1.233	1.596	10.393	0.215	0.00676546078505	.	.	5.223e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs201689968	1.573e-05	1.642e-05	8.467e-06	2.319e-05	8.837e-05	1.03e-05	8.79e-06	4.064e-05	2.853e-05	0	2.794e-05	0	5.588e-05	0	0	1.112e-05	0	8.837e-05	1.314e-05	1.313e-05	1.284e-05	1.344e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	9.406e-05	0	1.47e-05	0	0	0.002	0.72154	D	0.004	0.74150	D	0.988	0.62325	D	0.606	0.50970	P	.	.	.	.	1	0.08975	N	3.465	0.92394	M	0.11	0.61208	T	-3.65	0.69950	D	0.345	0.38643	-0.7353	0.58694	T	0.281	0.65299	T	9	0.29925573	0.47478	T	0.006765	0.17868	T	0.215	0.50805	0.494	0.58206	0.45553875121	0.45177	.	.	.	.	.	.	.	0.465065	0.80036	T	-0.296786	0.08966	T	-0.664089	0.07993	T	0.521020948886871	0.33403	D	0.773923	0.40554	T	.	.	.	.	.	.	.	.	-7.887	0.60298	D	.	.	0.222	0.45323	B	.	.	2.486377	0.32075	18.93	0.99830396365549634	0.91198	0.14876	0.18631	N	AEFDBCI	0.338275	0.43581	N	0.104359457365672	0.46665	2.903494	-0.0407824390057141	0.37891	2.224827	0.999953082991104	0.48110	0.487112	0.14033	0	0.547309	0.14657	0	0.468601	0.07175	0	0.564101	0.26826	0	.	.	4.81	1.8	0.24069	1.599000	0.36361	2.690000	0.34081	0.676000	0.76740	0.009000	0.18154	1.000000	0.68203	0.886000	0.42526	0.0:0.1255:0.6181:0.2564	10.393	0.43367	23	0.98420	Dual specificity phosphatase, catalytic domain|Dual specificity protein phosphatase domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain|Protein-tyrosine phosphatase, catalytic|Dual specificity protein phosphatase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	726.98	33	chr10	75105791	.	G	A	726.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.108e+00;DP=775;ExcessHet=0.0000;FS=3.334;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=0.136;SOR=0.843	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1129	20	0	1	0
chr10	75401348	75401348	-	CCG	exonic	ZNF503	.	nonframeshift insertion	ZNF503:NM_032772:exon1:c.71_72insCGG:p.G27_A28insG,	.	.	142	1331	24	1	24	50	0.00967262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	0.0042	0.0055	0	0	0.0046	0	0.0044	0.0016521	43	26028	rs780118403	0.0031	0.0030	0.0030	0.0033	0.0094	0.0031	0.0030	0.0072	0.0065	0.0044	0.0021	0.0066	8.399e-05	0.0007	0.0094	0.0030	0.0037	0.0064	0.0038	0.0038	0.0042	0.0034	0.0081	0.0036	0.0034	0.0061	0.0054	0.0041	0	0.0028	0.0087	0	0.0003	0.0035	0.0043	0.0048	0.0081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	836.94	35	chr10	75401348	.	T	TCCG	836.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=801;ExcessHet=0.0000;FS=4.488;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.79;ReadPosRankSum=0.900;SOR=1.538	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1102	20	0	1	0
chr10	77636494	77636494	C	G	exonic	KCNMA1	.	nonsynonymous SNV	KCNMA1:NM_001271522:exon2:c.G400C:p.E134Q,	Generalized epilepsy and paroxysmal dyskinesia, Autosomal dominant	.	8	1487	27	0	0	27	0.008997	.	.	1203578	KCNMA1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0155751	0.0082	0.0278	0.0056	0.03	0	0.0031	0.0152	0.0087	0.0019857	307	154602	rs139968359	0.0036	0.0034	0.0035	0.0038	0.0396	0.0035	0.0035	0.0379	0.0372	0.0265	0.0045	0.0018	0.0396	0.0015	0.0241	0.0011	0.0080	0.0090	0.0100	0.0100	0.0096	0.0105	0.0339	0.0096	0.0095	0.0298	0.0283	0.0263	0	0.0056	0.0017	0.0339	0.0009	0.0136	0.0014	0.0099	0.0091	.	.	.	0.136	0.34009	T	0.009	0.15093	B	0.005	0.11217	B	.	.	.	.	0.940241	0.37290	D	.	.	.	0.91	0.44856	T	.	.	.	0.07	0.04307	.	.	.	.	.	.	.	0.0028169155	0.00045	T	.	.	.	.	.	.	.	0.256237801699	0.25221	.	.	.	.	.	.	.	.	.	.	-0.54693	0.00304	T	-0.534028	0.18886	T	.	.	.	0.267173	0.04416	T	.	.	.	.	.	.	.	.	-3.381	0.14802	T	.	.	0.069	0.03266	B	.	.	2.102541	0.26750	17.23	0.84239989849224417	0.15176	0.26826	0.23104	N	AEFDGBCI	0.098973	0.19933	N	.	.	.	.	.	.	0.999992919501286	0.74766	0.228283	0.04149	0	0.429362	0.06391	1	0.217501	0.04623	0	0.211572	0.04316	2	.	.	3.95	2.04	0.25787	0.670000	0.24838	2.682000	0.34024	0.599000	0.40250	0.373000	0.25949	0.994000	0.32194	0.082000	0.17360	0.0:0.6676:0.2179:0.1145	5.369	0.15433	746	0.52331	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1536.98	33	chr10	77636494	.	C	G	1536.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=821;ExcessHet=0.0000;FS=2.426;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=-3.260e-01;SOR=0.492	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1262	20	0	1	0
chr10	77637505	77637505	-	GAG	exonic	KCNMA1	.	nonframeshift insertion	KCNMA1:NM_001014797:exon1:c.137_138insCTC:p.S60_V61insS	Generalized epilepsy and paroxysmal dyskinesia, Autosomal dominant	.	0	221	5	0	0	5	0.0111857	.	.	177785	not_specified|KCNMA1-related_disorder|Generalized_epilepsy-paroxysmal_dyskinesia_syndrome|not_provided	MedGen:CN169374|.|MONDO:MONDO:0012276,MedGen:C5574945,OMIM:609446,Orphanet:79137|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0.00838658	0.0031	0.0006	0.0005	0.0167	0.0023	0.0031	0.0047	0.0010	0.0006147	16	26028	rs572827902	0.0036	0.0038	0.0036	0.0037	0.0359	0.0036	0.0035	0.0343	0.0337	0.0016	0.0019	0.0091	0.0359	0.0065	0.0212	0.0024	0.0053	0.0011	0.0046	0.0046	0.0044	0.0048	0.0313	0.0043	0.0042	0.0273	0.0258	0.0009	0	0.0030	0.0095	0.0313	0.0059	0.0137	0.0050	0.0072	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1237.94	39	chr10	77637505	.	A	AGAG	1237.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.399e+00;DP=788;ExcessHet=0.0000;FS=6.350;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.94;ReadPosRankSum=-1.502e+00;SOR=0.607	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1167	20	0	1	0
chr10	77806906	77806906	C	T	exonic	DLG5	.	nonsynonymous SNV	DLG5:NM_004747:exon26:c.G4819A:p.D1607N,	.	.	1	1512	9	0	0	9	0.00296736	.	.	737608	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.776	P	0.583	P	0.027	N	0.999	D	0.11	N	2.33	T	-1.096	T	0.032	T	0.032	2.875	15.58	5.87	2.941	7.304	20.583	0.137	0.00273368010323	0.0033	0.00179712	0.0036	0.0012	0.0058	0.0001	0.0015	0.0049	0.0066	0.0006	0.0038551	596	154602	rs147733899	0.0046	0.0046	0.0047	0.0044	0.0054	0.0045	0.0044	0.0053	0.0052	0.0007	0.0050	0.0007	0	0.0013	0.0023	0.0054	0.0042	0.0007	0.0037	0.0037	0.0040	0.0034	0.0060	0.0034	0.0033	0.0053	0.0051	0.0010	0	0.0060	0	0.0002	0.0010	0.0034	0.0058	0.0071	0.0008	0.153	0.27904	T	0.006	0.70582	D	0.017	0.17573	B	0.011	0.15521	B	0.027112	0.25810	N	0.188315	0.999244	0.46434	D	0.625	0.15840	N	2.33	0.16492	T	-1.24	0.31375	N	0.16	0.16725	-1.0956	0.04667	T	0.032	0.13854	T	10	0.006292641	0.00142	T	0.002734	0.05637	T	0.137	0.36984	.	.	0.360112713275	0.35619	0.21524451862564084	0.21440	0.254785759849	0.28058	0.341420531273	0.16651	T	0.233795	0.60067	T	-0.623353	0.00105	T	-0.663052	0.08062	T	0.0333715757926284	0.02533	T	.	.	.	0.08449357	0.19560	0.06918168	0.14545	0.08449357	0.19560	0.06918168	0.14544	-10.408	0.76317	D	.	.	0.111	0.23918	B	.;.	.;.	4.048842	0.59999	24.2	0.9937609004066652	0.61671	0.98810	0.87149	D	AEFBI	0.892686	0.82986	D	0.102176441142892	0.46565	2.894866	0.234646820442223	0.51780	3.357682	0.99999999999971	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	7.361000	0.78756	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.901000	0.43729	0.0:1.0:0.0:0.0	20.583	0.99411	669	0.61081	SH3 domain|SH3 domain|Disks large homologue 5, SH3 domain;SH3 domain|SH3 domain|Disks large homologue 5, SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	643.98	39	chr10	77806906	.	C	T	643.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.863;DP=805;ExcessHet=0.0000;FS=2.117;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.91;ReadPosRankSum=-2.880e-01;SOR=1.023	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1217	20	0	1	0
chr10	77982179	77982179	C	T	exonic	POLR3A	.	nonsynonymous SNV	POLR3A:NM_007055:exon28:c.G3734A:p.R1245Q,	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, Autosomal recessive	YES	0	1518	4	0	0	4	0.00131579	.	.	316580	Leukoencephalopathy-ataxia-hypodontia-hypomyelination_syndrome|not_provided|POLR3A-related_disorder	MONDO:MONDO:0011897,MedGen:C2676243,OMIM:607694,Orphanet:137639,Orphanet:447893,Orphanet:447896,Orphanet:77295,Orphanet:88637|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.045	B	0.02	B	0.006	N	0.982	N	1.885	L	-1.12	T	-0.788	T	0.309	T	0.187	2.190	13.28	0.392	0.148	0.624	10.260	0.133	0.0440044966476	0.0018	0.000998403	0.0018	0.0007	0.0002	0.0009	0.0009	0.0028	0.0011	0.0002	0.001824	282	154602	rs143422889	0.0024	0.0024	0.0024	0.0023	0.0029	0.0023	0.0023	0.0028	0.0027	0.0007	0.0003	0.0008	0.0003	0.0011	0.0014	0.0029	0.0019	0.0002	0.0018	0.0018	0.0020	0.0016	0.0031	0.0016	0.0016	0.0028	0.0027	0.0008	0	0.0009	0.0003	0.0006	0.0009	0	0.0031	0.0010	0.0002	0.16	0.23721	T	0.302	0.28391	T	0.045	0.21781	B	0.02	0.19048	B	0.006403	0.32054	N	0.318671	0.982382	0.24968	N	2.355	0.67662	M	-1.12	0.77593	T	-1.37	0.33998	N	0.267	0.30233	-0.7879	0.55851	T	0.309	0.67940	T	9	0.009936869	0.00223	T	0.044004	0.61272	D	0.133	0.36157	.	.	0.743430985935	0.74112	0.7382162153214712	0.73766	0.400142401929	0.41017	0.341661810875	0.16686	T	0.346686	0.71491	T	-0.422504	0.01649	T	-0.375949	0.36194	T	0.00702428965499727	0.00080	T	0.930207	0.74183	D	0.054966275	0.10618	0.059580483	0.11206	0.043630097	0.06834	0.055580568	0.09775	-8.653	0.65438	D	0.08980600547865497	0.05528	0.069	0.03407	B	.;.	.;.	2.623157	0.34091	19.53	0.98530844866433165	0.42595	0.14091	0.18218	N	AEFDBI	0.055137	0.10085	N	-0.745854919764048	0.14745	0.7371897	-0.72767007597596	0.16273	0.8600793	0.998254746098757	0.36648	0.706548	0.73137	0	0.577304	0.33150	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.98	0.392	0.15512	0.647000	0.24500	0.074000	0.14299	-0.189000	0.09497	0.142000	0.23535	0.002000	0.18203	0.985000	0.61073	0.0:0.5214:0.0:0.4786	10.260	0.42602	871	0.31377	RNA polymerase Rpb1, domain 5;RNA polymerase Rpb1, domain 5|DNA-directed RNA polymerase III subunit RPC1, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1101.98	40	chr10	77982179	.	C	T	1101.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.464;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.11;ReadPosRankSum=0.349;SOR=0.660	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1504	20	0	1	0
chr10	79291160	79291160	G	A	exonic	ZMIZ1	.	nonsynonymous SNV	ZMIZ1:NM_020338:exon10:c.G742A:p.G248R,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	1.0	D	0.001	D	1.000	D	1.39	L	1.09	T	-0.767	T	0.283	T	0.928	3.794	19.26	5.67	2.681	9.476	19.767	0.274	0.0982107984803	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937190331	4.801e-06	4.788e-06	6.818e-06	2.76e-06	2.991e-05	2e-06	1.28e-06	1.32e-06	9.6e-07	2.991e-05	0	0	0	1.89e-05	0	4.507e-06	0	0	1.313e-05	1.313e-05	2.569e-05	0	4.822e-05	2.18e-06	8.2e-07	7.99e-06	2.99e-06	4.822e-05	0	0	0	0	0	0	0	0	0	0.034	0.44029	D	0.327	0.18732	T	0.997	0.70673	D	0.895	0.63489	P	0.000752	0.42006	D	0.000000	1	0.81001	D	2.52	0.73523	M	1.09	0.39223	T	-1.37	0.33998	N	0.947	0.95491	-0.7672	0.57011	T	0.283	0.65458	T	10	0.7360254	0.74626	D	0.098211	0.76903	D	0.274	0.59007	0.245	0.17984	0.27064940482	0.26676	0.8676755620296555	0.86732	1.65579666968	0.89614	0.822576999664	0.85423	D	0.22085	0.58425	T	0.144308	0.68733	D	0.152903	0.80368	D	0.653227567672729	0.38601	D	0.939006	0.77019	D	0.07716423	0.17496	0.12074219	0.29137	0.07716423	0.17495	0.12074219	0.29136	-5.225	0.39195	T	0.550429591385756	0.61909	0.780	0.76353	P	.	.	5.314380	0.89205	29.9	0.9984248630314293	0.92316	0.99158	0.92083	D	AEFDBI	0.928479	0.91275	D	0.381921865354193	0.60441	4.233217	0.463633177895427	0.65597	4.843921	0.999999999999995	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.67	5.67	0.87673	9.602000	0.97623	9.996000	0.83014	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.607000	0.31564	0.0:0.0:1.0:0.0	19.767	0.96341	886	0.28090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	780.98	34	chr10	79291160	.	G	A	780.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=751;ExcessHet=0.0000;FS=4.332;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.02;ReadPosRankSum=0.728;SOR=0.285	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1255	20	0	1	0
chr10	79311101	79311101	G	A	exonic	ZMIZ1	.	nonsynonymous SNV	ZMIZ1:NM_020338:exon24:c.G3013A:p.D1005N,	.	.	.	.	.	.	.	.	.	.	.	2108857	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.991	D	0.727	P	0.001	D	1.000	D	2.085	M	1.14	T	-0.745	T	0.171	T	0.086	5.362	34	4.72	2.327	9.420	18.052	0.223	0.0747155985525	0.0003	0.000399361	0.0003	0	0.0002	0.0016	0	0.0002	0	6.056e-05	0.0002846	44	154602	rs149174704	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0001	0.0014	0.0013	2.987e-05	0.0001	0.0038	0.0017	0	0.0002	3.957e-05	0.0004	3.478e-05	0.0001	0.0001	0.0002	0.0001	0.0017	9.142e-05	7.699e-05	0.0009	0.0007	2.406e-05	0	6.533e-05	0.0023	0.0017	0	0	2.94e-05	0	0	0.001	0.78490	D	0.078	0.44702	T	0.991	0.64070	D	0.727	0.55167	P	0.000523	0.43581	D	0.000000	1	0.81001	D	2.565	0.75005	M	1.14	0.38397	T	-2.78	0.58896	D	0.678	0.69562	-0.7453	0.58180	T	0.171	0.51245	T	10	0.026286542	0.00799	T	0.074716	0.72109	D	0.223	0.52023	.	.	0.541333355837	0.53785	0.44627086308278435	0.44545	0.84500378867	0.68250	0.868607163429	0.92368	D	0.330776	0.70092	T	-0.462088	0.00954	T	-0.443797	0.28383	T	0.193814598024431	0.20066	T	0.893211	0.63166	D	0.420197	0.62104	0.33221784	0.59072	0.420197	0.62105	0.33221784	0.59071	-7.249	0.55832	T	0.40797957359402304	0.49875	0.359	0.57180	A	.;.	.;.	6.046847	0.94430	34	0.99909697921197083	0.97949	0.95922	0.66735	D	AEFDGBHCI	0.907265	0.86107	D	0.717367959506714	0.80769	7.368635	0.704255969841753	0.82703	7.832909	1.0	0.98316	0.631515	0.41029	0	0.697927	0.68747	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.72	4.72	0.59248	9.602000	0.97623	11.770000	0.95838	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.052	0.89278	920	0.19381	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1162.98	34	chr10	79311101	.	G	A	1162.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.736;DP=800;ExcessHet=0.0000;FS=4.182;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.01;ReadPosRankSum=1.60;SOR=0.931	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1046	20	0	1	0
chr10	79611851	79611851	A	C	exonic	SFTPA1	.	nonsynonymous SNV	SFTPA1:NM_001164647:exon2:c.A26C:p.N9T	.	.	0	1521	1	0	0	1	0.000328623	.	.	229928	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.67	T	0.0	B	0.0	B	0.536	N	1.000	N	-1.895	N	2.64	T	-0.939	T	0.007	T	0.035	-1.844	0.009	1.56	0.155	-1.310	2.931	0.016	.	0.0006	.	0.0019	0.0210	0.0007	0	0	7.492e-05	0	6.056e-05	0.0009605	25	26028	rs139899873	0.0008	0.0009	0.0010	0.0007	0.0275	0.0008	0.0008	0.0260	0.0254	0.0275	0.0015	0	7.557e-05	1.872e-05	0.0017	7.555e-05	0.0024	0.0001	0.0083	0.0083	0.0090	0.0075	0.0283	0.0079	0.0077	0.0270	0.0264	0.0283	0	0.0037	0	0	0	0.0034	0.0001	0.0090	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.535653	0.11590	N	0.773408	1	0.08975	N	-1.32	0.00691	N	2.64	0.12780	T	1.16	0.01263	N	0.106	0.09066	-0.9389	0.42790	T	0.007	0.02399	T	10	0.0040893555	0.00080	T	.	.	.	0.016	0.02506	.	.	0.0551355673512	0.04727	0.1875675624164563	0.18674	0.0168008896403	0.01628	0.474941730499	0.35362	T	0.042688	0.26261	T	-0.763461	0.00014	T	-0.856462	0.00882	T	0.00610380281767304	0.00067	T	0.0514948	0.00370	T	0.02906526	0.02342	0.038031254	0.03584	0.02906526	0.02341	0.038031254	0.03584	0.279	0.00264	T	.	.	0.052	0.00259	B	.;.;.;.;.	.;.;.;.;.	-0.945568	0.00852	0.030	0.15950668710559107	0.00409	0.00006	0.00120	N	AEFDGBI	0.010992	0.00089	N	-1.63317284302979	0.01108	0.04810292	-1.57074247079955	0.01837	0.08368537	4.57703670300072E-4	0.07036	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.645665	0.59343	0	.	.	2.49	1.56	0.22423	-1.566000	0.02252	-0.338000	0.09838	-1.064000	0.01611	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2726:0.5707:0.0:0.1567	2.931	0.05445	702	0.57624	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	3775.98	46	chr10	79611851	.	A	C	3775.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.76;DP=1925;ExcessHet=0.0000;FS=3.960;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=49.02;MQRankSum=-1.209e+01;QD=10.18;ReadPosRankSum=-1.760e-01;SOR=0.885	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1261	20	0	1	0
chr10	79711841	79711841	C	G	exonic	NUTM2B	.	nonsynonymous SNV	NUTM2B:NM_001278495:exon7:c.C1993G:p.Q665E,	.	.	421	1077	20	4	0	28	0.0128323	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.97	T	.	.	.	.	0.009	N	1.000	N	.	.	2.78	T	-0.981	T	0.011	T	0.073	-2.625	0	0.451	0.225	-0.161	3.959	0.043	0.00107540885294	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1317635955	0.0004	0.0024	0.0003	0.0004	0.0014	0.0003	0.0003	0.0012	0.0011	0.0008	0.0003	0.0002	0.0010	0.0039	0	8.914e-05	0.0004	0.0014	0.0003	0.0034	0.0002	0.0004	0.0006	0.0002	0.0002	0.0004	0.0003	0.0006	0	7.079e-05	0	0.0005	0.0004	0	0.0002	0	0.0005	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.009328	0.01237	N	2.813430	1	0.08975	N	.	.	.	2.78	0.11298	T	-0.56	0.17003	N	0.052	0.02366	-0.9814	0.34678	T	0.011	0.03996	T	7	0.04182014	0.02872	T	0.001075	0.01239	T	0.043	0.11576	.	.	0.082315109003	0.07666	0.04515098052657296	0.04459	.	.	.	.	.	0.002869	0.02268	T	-0.388094	0.02767	T	-0.795246	0.02024	T	0.0222420028078043	0.00936	T	0.432757	0.11777	T	0.04766708	0.08184	0.03812953	0.03616	0.04766708	0.08184	0.03812953	0.03616	-2.745	0.07689	T	.	.	0.073	0.04599	B	.	.	-0.289777	0.02662	0.341	0.10184918605024793	0.00122	0.01337	0.04602	N	AEFI	0.035045	0.04446	N	-0.875582201295554	0.11426	0.5512962	-1.07425620614281	0.08209	0.4026423	1.15030611857549E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	1.38	0.451	0.15841	-0.221000	0.09208	-1.989000	0.04383	0.412000	0.20661	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.7692:0.0:0.2308	3.959	0.08896	814	0.42100	Nuclear Testis  protein, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	84.98	38	chr10	79711841	.	C	G	84.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.417;DP=1205;ExcessHet=0.0000;FS=7.467;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=34.91;MQRankSum=-1.451e+00;QD=3.86;ReadPosRankSum=0.767;SOR=2.712	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1575	20	0	1	0
chr10	80420537	80420537	G	A	exonic	PRXL2A	.	nonsynonymous SNV	PRXL2A:NM_001243778:exon2:c.G70A:p.A24T	.	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.964	D	0.634	P	0.000	D	0.996	D	2.39	M	.	.	-0.274	T	0.349	T	0.448	4.453	23.7	5.63	2.654	9.375	17.168	0.189	0.00861644887506	.	.	4.948e-05	0	0	0	0	1.5e-05	0	0.0003	3.88e-05	6	154602	rs756747737	7.595e-05	7.593e-05	6.263e-05	8.94e-05	0.0006	6.425e-05	6.005e-05	0.0005	0.0004	0	0	0	0	0	0.0003	4.947e-05	4.967e-05	0.0006	1.97e-05	1.969e-05	0	4.029e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.004	0.65419	D	0.011	0.64786	D	0.964	0.55854	D	0.634	0.51870	P	0.000002	0.62929	D	0.098411	0.99563	0.42782	D	.	.	.	.	.	.	-1.41	0.34795	N	0.46	0.49692	-0.2735	0.75717	T	0.349	0.71297	T	9	0.24491	0.41729	T	0.008616	0.22779	T	0.189	0.46613	0.419	0.46036	0.562540394707	0.55916	0.7828000908778107	0.78231	0.631368366302	0.57095	0.38729557395	0.23287	T	0.067886	0.33316	T	-0.179721	0.23777	T	-0.146502	0.59553	T	0.230335799973855	0.21967	T	0.834417	0.50357	T	0.22808868	0.45521	0.29694083	0.55727	0.22808868	0.45521	0.29694083	0.55727	-3.758	0.33002	T	.	.	0.136	0.41464	B	.;.;.;.;.;.	.;.;.;.;.;.	4.762572	0.77010	26.6	0.99881568655988784	0.95733	0.99506	0.96851	D	AEFDBI	0.912905	0.87417	D	0.817535025588856	0.87189	9.133058	0.831805795000036	0.91908	11.13313	0.999998507827775	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.63	5.63	0.86108	7.670000	0.82907	9.960000	0.82789	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.168	0.86702	941	0.13089	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1080.98	36	chr10	80420537	.	G	A	1080.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.466e+00;DP=798;ExcessHet=0.0000;FS=1.532;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.57;ReadPosRankSum=-1.833e+00;SOR=0.534	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1175	20	0	1	0
chr10	80571475	80571475	T	C	exonic	SH2D4B	.	nonsynonymous SNV	SH2D4B:NM_001145719:exon3:c.T245C:p.L82P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.998	D	0.929	D	0.002	N	1.000	D	0.69	N	2.75	T	-1.091	T	0.016	T	0.449	3.719	18.89	5.64	2.166	6.060	13.82	0.152	.	0.0101	0.0117812	0.0033	0.0367	0.0012	0	0	4.506e-05	0.0011	0	0.0030853	477	154602	rs12257493	0.0010	0.0010	0.0011	0.0008	0.0354	0.0009	0.0009	0.0337	0.0330	0.0354	0.0018	0	0	0	0.0009	2.518e-05	0.0022	8.115e-05	0.0098	0.0098	0.0101	0.0095	0.0345	0.0094	0.0092	0.0331	0.0325	0.0345	0	0.0028	0	0	0	0	5.88e-05	0.0061	0.0002	0.223	0.20607	T	0.161	0.31326	T	0.996	0.73220	D	0.919	0.66367	D	0.002424	0.36574	N	0.208449	0.999999	0.81001	D	.	.	.	2.75	0.11622	T	-1.63	0.39119	N	0.361	0.46462	-1.0909	0.05383	T	0.016	0.06425	T	10	0.0054768026	0.00121	T	.	.	.	0.152	0.39956	.	.	0.519079548728	0.51552	0.6159637191631078	0.61528	0.818420535003	0.67045	0.536753714085	0.43988	T	.	.	.	-0.470366	0.00846	T	-0.421964	0.30850	T	0.014447631737028	0.00292	T	0.864214	0.56114	D	.	.	.	.	.	.	.	.	-13.098	0.89782	D	.	.	0.827	0.78586	P	.;.;.	.;.;.	4.876323	0.79927	27.2	0.99867977111083817	0.94547	0.93037	0.57167	D	AEFBI	0.805092	0.72977	D	0.511875779841303	0.67790	5.129014	0.564920435220019	0.72443	5.810428	0.983283347984872	0.30535	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.64	5.64	0.86480	6.039000	0.70611	7.802000	0.69178	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	13.82	0.62806	930	0.16408	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	759.98	35	chr10	80571475	.	T	C	759.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.566;DP=789;ExcessHet=0.0000;FS=0.804;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.35;ReadPosRankSum=-1.432e+00;SOR=0.686	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1411	20	0	1	0
chr10	80571540	80571540	G	T	exonic	SH2D4B	.	nonsynonymous SNV	SH2D4B:NM_001145719:exon3:c.G310T:p.A104S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.998	D	0.919	D	0.000	D	0.989	D	1.525	L	2.72	T	-1.173	T	0.024	T	0.293	2.889	15.62	4.74	1.410	3.693	12.220	0.088	.	0.0101	0.0117812	0.0033	0.0367	0.0012	0	0	4.509e-05	0.0011	0	0.0030853	477	154602	rs77983942	0.0010	0.0010	0.0011	0.0008	0.0355	0.0009	0.0009	0.0338	0.0331	0.0355	0.0019	0	0	0	0.0009	2.518e-05	0.0022	9.275e-05	0.0098	0.0098	0.0101	0.0096	0.0346	0.0094	0.0092	0.0331	0.0325	0.0346	0	0.0028	0	0	0	0	5.88e-05	0.0057	0.0002	0.139	0.25768	T	0.254	0.23433	T	0.995	0.73220	D	0.894	0.65474	P	0.000167	0.48594	D	0.089370	0.989436	0.40952	D	.	.	.	2.72	0.11947	T	-0.97	0.25770	N	0.114	0.15187	-1.1727	0.00489	T	0.024	0.10194	T	10	0.0045711994	0.00095	T	.	.	.	0.088	0.25558	.	.	0.708716100184	0.70617	0.4246678970443311	0.42383	0.144270869859	0.16284	0.402423799038	0.25406	T	.	.	.	-0.550637	0.00289	T	-0.537268	0.18566	T	0.0259797706009161	0.01403	T	0.876112	0.60027	D	.	.	.	.	.	.	.	.	-5.144	0.38367	T	.	.	0.179	0.41962	B	.;.;.	.;.;.	2.654211	0.34565	19.66	0.99258556868332759	0.57121	0.89298	0.49678	D	AEFDBI	0.509567	0.53898	D	0.445489300608202	0.63948	4.638711	0.437651700824842	0.63927	4.636663	0.836124122451954	0.24782	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.64	4.74	0.59717	3.768000	0.55005	6.583000	0.56003	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0821:0.0:0.9179:0.0	12.220	0.53743	930	0.16408	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	639.98	38	chr10	80571540	.	G	T	639.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.022;DP=793;ExcessHet=0.0000;FS=0.941;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.70;ReadPosRankSum=0.757;SOR=0.565	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1411	20	0	1	0
chr10	80603602	80603602	G	A	exonic	SH2D4B	.	nonsynonymous SNV	SH2D4B:NM_001145719:exon5:c.G520A:p.E174K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.997	D	0.000	N	1.000	D	2.52	M	2.11	T	-0.842	T	0.149	T	0.422	4.952	28.8	5.12	1.565	4.424	13.187	0.169	0.0137853832092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.531e-06	4.104e-06	4.188e-06	2.858e-06	2.666e-05	1.03e-06	7.5e-07	8.6e-07	5.8e-07	0	0	0	2.666e-05	0	0	3.674e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.129	0.70582	T	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.84330	N	0.051918	0.999109	0.47849	D	.	.	.	2.11	0.19860	T	-2.69	0.60029	D	0.402	0.47765	-0.8418	0.52527	T	0.149	0.47646	T	10	0.33655268	0.50793	T	0.013785	0.33440	T	0.169	0.43123	0.407	0.44066	0.673305021989	0.67053	0.42195851486884756	0.42112	0.288986431784	0.31306	0.683480858803	0.64769	T	.	.	.	-0.103755	0.35804	T	-0.386813	0.34924	T	0.977092623710632	0.71683	D	0.919108	0.70849	D	.	.	.	.	.	.	.	.	-5.836	0.44887	T	.	.	0.085	0.10014	B	.;.;.	.;.;.	4.182857	0.62987	24.5	0.99918464128476825	0.98586	0.89939	0.50738	D	AEFDBI	0.537720	0.55541	D	0.593732076554503	0.72783	5.860277	0.567086584081486	0.72596	5.834571	0.997427682447776	0.35604	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.02	5.12	0.69459	4.913000	0.63039	5.865000	0.50473	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.0767:0.0:0.9233:0.0	13.187	0.59111	974	0.05496	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	743.98	46	chr10	80603602	.	G	A	743.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.346e+00;DP=848;ExcessHet=0.0000;FS=5.040;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.71;ReadPosRankSum=-1.441e+00;SOR=0.223	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	20	0	1	0
chr10	84150750	84150750	C	T	exonic	GHITM	.	nonsynonymous SNV	GHITM:NM_014394:exon8:c.C823T:p.L275F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.985	D	0.913	D	0.000	D	1.000	D	2.435	M	0.73	T	-0.632	T	0.259	T	0.911	4.392	23.2	3.32	0.472	1.374	11.049	0.340	0.0132283052883	8.4e-05	0.000399361	0.0001	0.0003	8.738e-05	0.0001	0	6.03e-05	0	0.0002	9.7e-05	15	154602	rs200385037	0.0001	0.0001	9.409e-05	0.0001	0.0014	8.793e-05	8.279e-05	0.0007	0.0005	0.0005	8.948e-05	0.0003	2.52e-05	0	0.0014	5.855e-05	0.0003	0.0003	8.537e-05	8.531e-05	5.14e-05	0.0001	0.0002	4.954e-05	3.96e-05	7.873e-05	5.576e-05	0.0002	0	6.539e-05	0.0006	0	0	0	4.411e-05	0	0	0.02	0.49613	D	0.036	0.52060	D	0.985	0.61118	D	0.913	0.64886	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.66	0.77858	M	0.73	0.50721	T	-3.76	0.71276	D	0.865	0.86191	-0.6322	0.63477	T	0.259	0.62955	T	10	0.5526901	0.64344	D	0.013228	0.32470	T	0.340	0.66202	.	.	0.52360052443	0.52005	0.8661029374360146	0.86575	0.255209668601	0.28107	0.55671620369	0.46804	T	0.180642	0.53205	T	0.0190673	0.54256	T	0.0858047	0.75966	D	0.538936138153076	0.34064	D	0.949755	0.80719	D	0.39128363	0.60123	0.38441113	0.63382	0.39128363	0.60124	0.38441113	0.63382	-8.38	0.63632	D	.	.	0.232	0.46528	B	.	.	3.402828	0.47165	22.4	0.99891376883464356	0.96513	0.94843	0.62522	D	AEFGBI	0.775994	0.70924	D	0.419244647312199	0.62481	4.464689	0.360704443026662	0.59155	4.091041	0.599476558136331	0.21713	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	3.32	0.37134	1.415000	0.34355	2.168000	0.31032	0.599000	0.40250	0.915000	0.31815	0.991000	0.31484	0.990000	0.65344	0.0:0.7946:0.0:0.2054	11.049	0.47095	881	0.29269	Growth hormone-inducible transmembrane protein	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	788.98	33	chr10	84150750	.	C	T	788.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.356e+00;DP=773;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.51;ReadPosRankSum=0.345;SOR=0.751	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1215	20	0	1	0
chr10	84184760	84184760	G	T	exonic	C10orf99	.	nonsynonymous SNV	C10orf99:NM_207373:exon3:c.G240T:p.Q80H,	.	.	423	1087	11	1	0	13	0.00594422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.007	U	0.974	N	.	.	.	.	-0.984	T	0.108	T	0.547	1.858	12.17	0.979	0.221	0.056	5.816	0.141	.	0.0003	0.00399361	0.0040	0.0003	0.0132	0.0269	0.0002	0.0002	0	0.0048	0.0034993	541	154602	rs76221724	0.0016	0.0016	0.0015	0.0016	0.0277	0.0015	0.0015	0.0263	0.0258	0.0001	0.0094	0	0.0277	1.874e-05	0.0005	0.0002	0.0016	0.0047	0.0013	0.0013	0.0012	0.0014	0.0213	0.0012	0.0011	0.0181	0.0169	0.0003	0	0.0022	0	0.0213	0	0.0068	0.0002	0.0038	0.0046	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.006574	0.31942	U	0.000000	0.974334	0.25497	N	.	.	.	.	.	.	-4.0	0.74051	D	0.344	0.38541	-0.9836	0.34164	T	0.108	0.39270	T	8	0.0064013004	0.00145	T	.	.	.	0.141	0.37795	0.163	0.06730	0.144782658237	0.14088	0.14085334914174644	0.14008	0.0265774283151	0.02714	.	.	.	.	.	.	-0.341494	0.05285	T	-0.245056	0.50303	T	0.0888090099234062	0.11075	T	0.50325	0.15827	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.866	0.80659	P	.	.	1.803765	0.22927	15.82	0.99019210874948427	0.50548	0.70692	0.34696	D	AEFDBI	0.085898	0.17415	N	0.185296498331203	0.50492	3.238771	0.0723337538637086	0.43162	2.624	0.0043863099384363	0.10527	0.580535	0.33130	0	0.626922	0.53725	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.83	0.979	0.18864	0.060000	0.14220	1.113000	0.24175	-0.192000	0.09343	0.983000	0.35670	1.000000	0.68203	0.772000	0.36596	0.3425:0.0:0.6575:0.0	5.816	0.17752	933	0.16026	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1021.98	34	chr10	84184760	.	G	T	1021.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.210;DP=826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=0.156;SOR=0.780	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1446	20	0	1	0
chr10	84234132	84234132	C	A	exonic	LRIT1	.	nonsynonymous SNV	LRIT1:NM_015613:exon3:c.G836T:p.G279V,	.	.	421	1087	14	0	0	14	0.00639854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	4.17	H	-1.32	T	0.875	D	0.812	D	0.882	3.478	17.80	5.91	2.793	7.487	19.07	0.783	.	0.0005	0.00199681	0.0010	0	0.0003	0.0001	0	0.0005	0	0.0066	0.0008667	134	154602	rs373737385	0.0006	0.0006	0.0004	0.0008	0.0053	0.0006	0.0006	0.0049	0.0048	9.016e-05	0.0003	0.0011	0	0	0.0027	0.0003	0.0008	0.0053	0.0005	0.0005	0.0005	0.0006	0.0072	0.0004	0.0004	0.0054	0.0047	0.0002	0	0.0005	0.0012	0	0	0	0.0004	0	0.0072	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.25	0.89816	M	-1.32	0.79761	T	-6.97	0.93544	D	0.946	0.95374	0.875	0.95347	D	0.812	0.93647	D	10	0.07510394	0.11564	T	.	.	.	0.783	0.92787	.	.	0.73760156344	0.73525	0.952733017401933	0.95257	0.498056907143	0.48287	0.678406000137	0.64040	T	0.475524	0.80653	T	0.0540273	0.58859	T	0.305371	0.88445	D	0.192734791936266	0.20004	T	0.872413	0.57909	D	0.8944415	0.90892	0.6313152	0.78491	0.8944415	0.90893	0.6313152	0.78492	-10.637	0.77630	D	.	.	0.901	0.82795	P	.	.	4.453791	0.69252	25.3	0.99710016478489993	0.81283	0.98815	0.87215	D	AEFDBI	0.903024	0.85162	D	0.867179570836743	0.90064	10.237	0.704065771692812	0.82686	7.829259	0.999999405348896	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.48864	0.07692	0	0.542086	0.14980	0	.	.	5.91	5.91	0.95240	7.568000	0.81546	7.701000	0.66289	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.055000	0.15596	0.0:1.0:0.0:0.0	19.07	0.93113	927	0.17636	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3601.11	42	chr10	84234132	.	C	A	3601.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.515e+00;DP=1639;ExcessHet=0.1072;FS=0.495;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.79;ReadPosRankSum=-1.132e+00;SOR=0.743	GT:AD:DP:GQ:PL	0/1:54,70:124:99:1756,0,1443	19	0	2	0
chr10	86681689	86681689	C	T	exonic	LDB3	.	nonsynonymous SNV	LDB3:NM_001080115:exon5:c.C575T:p.P192L	Cardiomyopathy, dilated, 1C, with or without LVNC, Autosomal dominant;Cardiomyopathy, hypertrophic, 24, Autosomal dominant;Left ventricular noncompaction 3, Autosomal dominant;Myopathy, myofibrillar, 4, Autosomal dominant	.	0	1521	0	1	0	2	0.00065703	.	.	359872	Myofibrillar_myopathy_4|not_specified|Cardiovascular_phenotype	MONDO:MONDO:0012277,MedGen:C4721886,OMIM:609452,Orphanet:98912|MedGen:CN169374|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.981	D	0.591	P	0.006	N	1.000	N	1.995	M	1.13	T	-0.824	T	0.200	T	0.439	2.288	13.61	3.63	2.676	2.002	14.745	0.120	0.0351629380014	.	.	1.672e-05	0	0	0	0	3.047e-05	0	0	1.29e-05	2	154602	rs758182278	9.581e-06	9.577e-06	8.171e-06	1.101e-05	0.0003	5.56e-06	4.35e-06	6.092e-05	2.521e-05	0	0	0	0.0001	1.887e-05	0.0003	5.396e-06	0	1.16e-05	1.314e-05	1.313e-05	0	2.689e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	0.004	0.72154	D	0.009	0.67890	D	0.824	0.59675	P	0.06	0.50479	B	0.006431	0.32040	N	0.000000	0.999957	0.19853	N	2.39	0.68882	M	0.8	0.55608	T	-2.11	0.67589	N	0.441	0.48963	-0.8242	0.53670	T	0.200	0.55584	T	10	0.28315797	0.45895	T	0.035163	0.56165	D	0.120	0.33359	0.22	0.14224	0.774162565452	0.77209	0.8232927986606182	0.82286	0.211927572695	0.23693	0.429125189781	0.29089	T	0.705596	0.91560	D	-0.184469	0.23074	T	-0.321225	0.42441	T	0.288897067308426	0.24544	T	0.838216	0.51127	T	0.19759618	0.41630	0.26611868	0.52453	0.19759618	0.41630	0.26611868	0.52452	-7.049	0.60968	T	.	.	0.105	0.20819	B	.;.;.;.;.;.	.;.;.;.;.;.	3.400518	0.47126	22.4	0.99781528727270496	0.86780	0.87649	0.47259	D	AEFDGBI	0.359826	0.45001	N	-0.018136164422839	0.41036	2.447375	-0.00573797808008088	0.39455	2.339671	0.999988767079514	0.51787	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	5.67	3.63	0.40741	1.889000	0.39352	0.834000	0.21977	0.599000	0.40250	0.939000	0.32602	0.246000	0.23885	0.291000	0.24285	0.2391:0.7609:0.0:0.0	14.745	0.69105	892	0.26670	.;.;Zasp-like motif;Zasp-like motif;Zasp-like motif;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1473.98	35	chr10	86681689	.	C	T	1473.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.23;DP=869;ExcessHet=0.0000;FS=2.906;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.45;ReadPosRankSum=-7.500e-01;SOR=0.925	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1120	20	0	1	0
chr10	86942658	86942658	T	C	exonic	MMRN2	.	nonsynonymous SNV	MMRN2:NM_024756:exon6:c.A2126G:p.K709R,	.	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.012	B	0.01	B	0.531	N	1.000	N	0.755	N	2.39	T	-1.014	T	0.028	T	0.034	1.516	11.02	3.83	1.866	1.691	9.032	0.075	0.00826670653165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.21718	T	0.37	0.16473	T	0.006	0.13644	B	0.002	0.06944	B	0.530608	0.11643	N	0.769745	1	0.08975	N	1.04	0.26193	L	2.39	0.15724	T	-0.57	0.17210	N	0.027	0.00571	-1.0135	0.25816	T	0.028	0.12147	T	10	0.0714533	0.10533	T	0.008267	0.21903	T	0.075	0.21907	0.269	0.21735	0.412587454835	0.40873	0.12909857314731457	0.12834	0.948142833302	0.72497	0.532063126564	0.43325	T	0.004005	0.03413	T	-0.360955	0.04076	T	-0.756264	0.03248	T	0.06982746917005	0.08626	T	0.364564	0.08467	T	0.05133097	0.09410	0.045556266	0.06155	0.05133097	0.09410	0.045556266	0.06154	-1.326	0.01443	T	.	.	0.070	0.03336	B	.	.	0.988937	0.13669	10.20	0.89053154120540323	0.18472	0.05361	0.11221	N	AEFDBI	0.080237	0.16219	N	-0.84301923858713	0.12221	0.594445	-0.808984796596683	0.14279	0.7452283	0.99994293328588	0.47345	0.706548	0.73137	0	0.547309	0.14657	0	0.478664	0.07449	1	0.714379	0.83352	0	.	.	4.96	3.83	0.43287	2.227000	0.42615	0.717000	0.20982	0.509000	0.23192	0.021000	0.19753	0.002000	0.18203	0.001000	0.02609	0.0:0.0887:0.0:0.9113	9.032	0.35424	858	0.34001	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1000.98	35	chr10	86942658	.	T	C	1000.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.93;DP=900;ExcessHet=0.0000;FS=0.900;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=0.613;SOR=0.896	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,109,1363	20	0	1	0
chr10	86945586	86945586	G	T	exonic	MMRN2	.	nonsynonymous SNV	MMRN2:NM_024756:exon2:c.C268A:p.P90T,	.	.	.	.	.	.	.	.	.	.	.	3457618	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.981	D	0.832	P	0.002	N	1.000	N	1.81	L	0.98	T	-1.009	T	0.139	T	0.166	2.608	14.68	1.49	0.271	1.553	4.000	0.100	0.0204486038074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.375e-06	1.368e-06	0	2.769e-06	1.804e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.804e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.28148	T	0.009	0.67890	D	0.981	0.59675	D	0.832	0.59730	P	0.002050	0.37364	N	0.218862	1	0.08975	N	2.525	0.73725	M	0.98	0.42122	T	-5.84	0.88431	D	0.365	0.40665	-1.0092	0.27167	T	0.139	0.45715	T	10	0.3152809	0.48961	T	0.020449	0.43047	T	0.100	0.28662	0.517	0.61763	0.736917875404	0.73456	0.424727429226316	0.42389	0.663835845128	0.59036	0.323059618473	0.13884	T	0.133351	0.46397	T	-0.182313	0.23392	T	-0.499656	0.22383	T	0.961672008037567	0.66149	D	0.848615	0.59309	T	0.18905206	0.40430	0.20933934	0.45275	0.18905206	0.40429	0.20933934	0.45274	-8.96	0.67439	D	.	.	0.075	0.09288	B	.;.;.	.;.;.	2.708312	0.35391	19.89	0.99262436271691545	0.57255	0.52759	0.29208	D	AEFDGBHCI	0.153597	0.27848	N	0.0559570995769688	0.44418	2.71616	-0.0574464146210895	0.37170	2.172734	0.999830411517298	0.43792	0.67177	0.52595	0	0.615948	0.52940	0	0.596874	0.31795	0	0.711	0.71501	0	.	.	5.56	1.49	0.21966	1.855000	0.39018	0.114000	0.14823	0.618000	0.50648	0.993000	0.37899	0.000000	0.08366	0.888000	0.42677	0.1404:0.1264:0.6024:0.1308	4.000	0.09067	867	0.32089	EMI domain|EMI domain;EMI domain|EMI domain;EMI domain|EMI domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1171.98	33	chr10	86945586	.	G	T	1171.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.100e-01;DP=861;ExcessHet=0.0000;FS=5.509;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=-6.370e-01;SOR=0.321	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr10	87008826	87008826	G	A	exonic	AGAP11	.	nonsynonymous SNV	AGAP11:NM_133447:exon12:c.G574A:p.A192T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000399361	7.433e-05	9.794e-05	8.637e-05	0.0002	0	3.003e-05	0	0.0002	7.12e-05	11	154602	rs371225899	3.899e-05	3.899e-05	2.995e-05	4.813e-05	0.0003	3.047e-05	2.783e-05	0.0002	0.0001	0	6.708e-05	0	7.557e-05	0	0	2.428e-05	3.311e-05	0.0003	3.943e-05	3.938e-05	7.714e-05	0	0.0002	1.716e-05	1.13e-05	4.88e-06	1.83e-06	2.408e-05	0	6.541e-05	0	0.0002	0	0	2.941e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2971.98	191	chr10	87008826	.	G	A	2971.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.368e+00;DP=3780;ExcessHet=0.0000;FS=0.457;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.41;MQRankSum=-2.155e+00;QD=11.56;ReadPosRankSum=0.162;SOR=0.635	GT:AD:DP:GQ:PL	0/0:197,0:197:99:0,120,1800	20	0	1	0
chr10	87009537	87009537	C	T	exonic	AGAP11	.	nonsynonymous SNV	AGAP11:NM_133447:exon12:c.C1285T:p.R429W,	.	.	417	1102	3	0	0	3	0.00135931	.	.	2338832	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	.	0.0004	0.0008	0.0009	0	0	0.0004	0.0011	6.058e-05	0.000401	62	154602	rs190063080	0.0007	0.0007	0.0008	0.0007	0.0020	0.0007	0.0007	0.0011	0.0008	0.0003	0.0009	0	2.519e-05	0	0.0020	0.0008	0.0007	0.0003	0.0007	0.0007	0.0007	0.0006	0.0021	0.0006	0.0005	0.0015	0.0013	0.0005	0	0.0021	0	0	0	0	0.0007	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2308.98	36	chr10	87009537	.	C	T	2308.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.571;DP=928;ExcessHet=0.0000;FS=2.130;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.47;MQRankSum=-9.360e-01;QD=15.92;ReadPosRankSum=0.835;SOR=0.596	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr10	87226149	87226149	C	T	exonic	NUTM2A	.	nonsynonymous SNV	NUTM2A:NM_001099338:exon1:c.C319T:p.H107Y,	.	.	1487	32	0	3	0	6	0.0857143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.659	P	0.403	B	.	.	1.000	N	0.55	N	2.81	T	-1.047	T	0.026	T	0.033	-2.130	0.005	0.354	0.154	1.131	3.743	0.087	.	.	0.0129792	0.0047	0	0.0065	.	0	0.0072	0	0.1111	0.0012678	196	154602	rs78856879	0.0208	0.0029	0.0194	0.0224	0.2256	0.0198	0.0194	0.1928	0.1804	0.0007	0.0846	0	0	0	0	0.0232	0.0164	0.2256	0.0002	0.0074	0	0.0005	0.0012	5.721e-05	3.055e-05	0.0002	7.046e-05	0	0	0.0012	0	0	0	0	0.0010	0	0	0.618	0.05341	T	0.098	0.46862	T	0.659	0.40886	P	0.403	0.44588	B	.	.	.	.	1	0.08975	N	.	.	.	2.81	0.21473	T	-0.21	0.10308	N	0.195	0.21449	-1.0471	0.15217	T	0.026	0.11309	T	9	0.0029922426	0.00049	T	.	.	.	0.087	0.25287	.	.	.	.	0.012261439894405911	0.01185	.	.	0.606433749199	0.53813	T	0.001635	0.01065	T	-0.341822	0.05262	T	-0.72878	0.04383	T	0.0845391506841971	0.10558	T	0.476552	0.14308	T	0.03928617	0.05395	0.06041585	0.11501	0.03928617	0.05394	0.06041585	0.11500	-4.642	0.32695	T	.	.	0.078	0.12797	B	.;.	.;.	1.149009	0.15371	11.80	0.52149812966942932	0.04694	0.02677	0.07305	N	AEFI	0.029649	0.02839	N	-1.04507266648348	0.07685	0.3578228	-1.15891487746776	0.06610	0.3187014	5.31718313235543E-5	0.04171	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.32	0.354	0.15300	0.244000	0.17899	-3.032000	0.03123	-0.555000	0.04881	0.897000	0.31356	0.000000	0.08366	0.005000	0.06747	0.0:0.7433:0.0:0.2567	3.743	0.08063	926	0.17793	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	1.0	57.13	2	chr10	87226149	.	C	T	57.13	.	AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=6;MLEAF=1.00;MQ=25.00;QD=28.56;SOR=0.693	GT:AD:DP:GQ:PL	./.	0	1	0	20
chr10	87228937	87228937	A	G	exonic	NUTM2A	.	nonsynonymous SNV	NUTM2A:NM_001099338:exon2:c.A1057G:p.T353A,	.	.	548	971	2	1	0	4	0.0020555	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.515	P	0.56	P	0.893	N	1.000	N	0.755	N	1.87	T	-0.953	T	0.055	T	0.239	-1.353	0.028	0.321	0.150	0.332	3.684	0.014	0.00149504019613	.	.	0.0005	0	0.0002	0.0056	0	0.0001	0	0	3.84e-05	1	26028	rs753694230	0.0006	0.0004	0.0005	0.0006	0.0112	0.0005	0.0005	0.0103	0.0100	0	4.787e-05	0.0003	0.0112	0.0002	0.0016	9.414e-05	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0027	0.0001	0.0001	0.0017	0.0013	0	0	6.713e-05	0.0009	0.0027	0	0	0.0002	0	0.0004	0.61	0.06164	T	1.0	0.08134	T	0.515	0.37421	P	0.56	0.49558	P	0.893170	0.07308	N	1.054750	1	0.08975	N	.	.	.	1.87	0.24085	T	-0.42	0.17417	N	0.053	0.04790	-0.9527	0.40503	T	0.055	0.23224	T	10	0.0064060986	0.00145	T	0.001495	0.02292	T	0.061	0.17616	0.18	0.08751	0.043077524339	0.03247	0.029714614865616874	0.02920	.	.	0.766561985016	0.76909	T	0.003705	0.03111	T	-0.571145	0.00218	T	-0.598114	0.12970	T	0.0363992448187746	0.03051	T	0.70163	0.31127	T	0.04586813	0.07581	0.038449503	0.03716	0.04586813	0.07581	0.038449503	0.03716	-6.238	0.49525	T	.	.	0.106	0.19800	B	.;.	.;.	0.247778	0.06271	2.729	0.68925011577018214	0.08810	0.00046	0.00367	N	AEFI	0.010127	0.00068	N	-0.87429058872569	0.11456	0.5529742	-0.991174396481521	0.09983	0.4999514	1.11575360566664E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.29	0.321	0.15127	0.167000	0.16419	-1.276000	0.05839	0.423000	0.20817	0.296000	0.25288	0.000000	0.08366	0.045000	0.14751	0.2637:0.0:0.7363:0.0	3.684	0.07855	924	0.18029	Nuclear Testis  protein, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	142.06	4	chr10	87228937	.	A	G	142.06	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.00;DP=272;ExcessHet=0.0000;FS=3.332;InbreedingCoeff=-0.0301;MLEAC=1;MLEAF=0.024;MQ=32.03;MQRankSum=-8.760e-01;QD=15.78;ReadPosRankSum=2.52;SOR=0.061	GT:AD:DP:GQ:PL	0/0:12,0:12:33:0,33,495	20	0	1	0
chr10	87232860	87232860	G	A	exonic	NUTM2A	.	nonsynonymous SNV	NUTM2A:NM_001099338:exon5:c.G1609A:p.E537K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.972	D	0.866	P	0.043	N	1.000	N	1.54	L	2.41	T	-0.992	T	0.085	T	0.329	1.489	10.93	-1.62	-0.403	-0.121	2.493	0.014	0.00280233783207	.	0.000798722	0.0022	0	0	0	0	0	0	0.0085	0.0001537	4	26028	rs534818468	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	0.0001	0.0015	0.0014	0	0	0	0	0.0009	0.0002	1.012e-05	0.0001	0.0017	0.0002	0.0002	6.627e-05	0.0003	0.0029	0.0001	9.532e-05	0.0017	0.0013	0	0	0	0	0	0.0008	0	4.631e-05	0	0.0029	0.081	0.34444	T	0.144	0.33109	T	0.972	0.57405	D	0.866	0.61580	P	0.042926	0.01912	N	2.096150	1	0.08975	N	.	.	.	2.41	0.28189	T	-2.32	0.51968	N	0.087	0.06587	-0.9923	0.32012	T	0.085	0.33157	T	10	0.0059117973	0.00132	T	0.002802	0.05840	T	0.060	0.17295	.	.	0.0675242888579	0.06100	0.04764129308581423	0.04707	.	.	0.642496407032	0.58919	T	0.02717	0.19957	T	-0.499134	0.00578	T	-0.496224	0.22739	T	0.124929367434502	0.14906	T	0.730727	0.34650	T	0.06326793	0.13303	0.056156516	0.09982	0.06326793	0.13303	0.056156516	0.09981	-4.496	0.30889	T	.	.	0.082	0.08948	B	.;.	.;.	1.617500	0.20662	14.85	0.99007965344644511	0.50293	0.00104	0.00666	N	AEFI	0.035462	0.04568	N	-0.884137796512944	0.11220	0.5402504	-1.1278364322251	0.07172	0.3478773	1.68081664429941E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.15	-1.62	0.07926	0.591000	0.23670	-2.434000	0.03759	0.380000	0.20399	0.038000	0.20882	0.000000	0.08366	0.034000	0.13613	0.245:0.3198:0.4352:0.0	2.493	0.04333	922	0.19044	Nuclear Testis  protein, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	820.34	723	chr10	87232860	.	G	A	820.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-7.720e-01;DP=723;ExcessHet=0.0000;FS=3.027;InbreedingCoeff=-0.0258;MLEAC=1;MLEAF=0.025;MQ=37.18;MQRankSum=1.35;QD=10.38;ReadPosRankSum=0.844;SOR=0.397	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1221	19	0	1	1
chr10	87366280	87366280	C	T	exonic	NUTM2D	.	stopgain	NUTM2D:NM_001382304:exon7:c.C1777T:p.Q593X,	.	.	398	1095	29	0	0	29	0.0130689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.961	T	0.172	T	.	0.183	4.986	-1.84	-1.662	-0.588	7.354	0.018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325384618	0.0026	0.0078	0.0024	0.0029	0.0096	0.0025	0.0025	0.0074	0.0067	0.0007	0.0023	0.0038	2.519e-05	0.0055	0.0096	0.0024	0.0030	0.0041	0.0050	0.0080	0.0053	0.0048	0.0075	0.0047	0.0046	0.0070	0.0067	0.0010	0.0044	0.0052	0.0067	0	0.0068	0.0103	0.0075	0.0077	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	0.009328	0.01237	N	2.813430	0.999998	0.58761	D	.	.	.	.	.	.	.	.	.	0.044	0.01658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.857955	0.00002	T	-1.00759	0.00125	T	0.00221969696228133	0.00023	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	3.764689	0.54042	23.4	0.80930663807776171	0.13437	0.00066	0.00474	N	AEFI	0.019097	0.00634	N	-1.22212934180185	0.04680	0.211748	-1.47293700254715	0.02568	0.1183608	8.14036392797832E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	0.919	-1.84	0.07387	-0.266000	0.08660	-1.961000	0.04429	-0.995000	0.01833	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.3421:0.6579:0.0	7.354	0.25884	681	0.59854	Nuclear Testis  protein, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	458.98	35	chr10	87366280	.	C	T	458.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.320e-01;DP=995;ExcessHet=0.0000;FS=0.636;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=36.91;MQRankSum=-3.042e+00;QD=2.16;ReadPosRankSum=-6.850e-01;SOR=0.754	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1341	20	0	1	0
chr10	87863967	87863967	-	GCG	exonic	PTEN	.	nonframeshift insertion	PTEN:NM_001304717:exon1:c.18_19insGCG:p.A17_P18insA,	Bannayan-Riley-Ruvalcaba syndrome, Autosomal dominant;Cowden syndrome 1, Autosomal dominant;Endometrial carcinoma, somatic;Lhermitte-Duclos syndrome, Autosomal dominant;Macrocephaly/autism syndrome, Autosomal dominant;Malignant melanoma, somatic;PTEN hamartoma tumor syndrome (3);Squamous cell carcinoma, head and neck, somatic;VATER association with macrocephaly and ventriculomegaly, Autosomal recessive	.	1	223	2	0	0	2	0.00446429	.	.	539291	not_provided|Cowden_syndrome_1|PTEN-related_disorder|Hereditary_cancer-predisposing_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|.|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs1402398574	0.0034	0.0020	0.0032	0.0036	0.0039	0.0032	0.0031	0.0036	0.0035	0.0019	0.0015	0.0034	0.0006	0.0050	0.0026	0.0039	0.0031	0.0006	0.0027	0.0027	0.0030	0.0024	0.0034	0.0025	0.0024	0.0031	0.0029	0.0016	0	0.0017	0.0084	0.0004	0.0045	0.0035	0.0034	0.0024	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	457.94	20	chr10	87863967	.	A	AGCG	457.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=594;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.12;MQRankSum=-1.603e+00;QD=20.82;ReadPosRankSum=-7.920e-01;SOR=0.976	GT:AD:DP:GQ:PL	0/0:28,0:28:84:0,84,826	20	0	1	0
chr10	87961005	87961005	A	G	exonic	PTEN	.	nonsynonymous SNV	PTEN:NM_000314:exon8:c.A913G:p.S305G	Bannayan-Riley-Ruvalcaba syndrome, Autosomal dominant;Cowden syndrome 1, Autosomal dominant;Endometrial carcinoma, somatic;Lhermitte-Duclos syndrome, Autosomal dominant;Macrocephaly/autism syndrome, Autosomal dominant;Malignant melanoma, somatic;PTEN hamartoma tumor syndrome (3);Squamous cell carcinoma, head and neck, somatic;VATER association with macrocephaly and ventriculomegaly, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	233873	Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0017623,MeSH:D006223,MedGen:C1959582,Orphanet:306498	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.001	N	1.000	D	0.83	L	-3.49	D	0.114	D	0.672	D	0.322	2.978	15.93	5.13	1.942	6.312	14.923	0.214	0.1212646141	.	.	8.251e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs775461980	1.368e-06	1.368e-06	0	2.751e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.23450	T	0.235	0.24767	T	0.0	0.02946	B	0.0	0.01387	B	0.001378	0.39242	N	0.326575	0.999966	0.52935	D	2.215	0.62545	M	-3.49	0.94621	D	-0.73	0.20576	N	0.396	0.43706	0.114	0.84431	D	0.672	0.88650	D	9	0.30101228	0.47645	T	0.121265	0.80199	D	0.214	0.50650	0.376	0.38994	0.884054903663	0.88292	0.61575518438823	0.61507	1.06060620683	0.76461	0.600383281708	0.52958	T	0.666569	0.90056	D	0.0588403	0.59468	T	-0.0564024	0.66582	D	0.436575323343277	0.30303	T	0.813219	0.46599	T	0.11658209	0.27496	0.08884283	0.20740	0.11658209	0.27496	0.08884283	0.20740	-0.745	0.00757	T	0.1292427122168075	0.13476	0.069	0.03887	B	.;.	.;.	3.303809	0.45360	22.1	0.99249717889604838	0.56825	0.99312	0.94338	D	AEFGBI	0.876987	0.80133	D	-0.0697207633882899	0.38726	2.273	0.127743322438425	0.45974	2.851162	0.999999999995036	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635259	0.50027	0	.	.	5.13	5.13	0.69729	5.229000	0.65144	9.266000	0.79598	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.923	0.70499	900	0.24599	Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain;Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4808.98	72	chr10	87961005	.	A	G	4808.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.892e+00;DP=2082;ExcessHet=0.0000;FS=3.357;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.49;MQRankSum=-5.550e-01;QD=12.05;ReadPosRankSum=0.378;SOR=0.544	GT:AD:DP:GQ:PL	0/0:111,0:111:99:0,120,1800	20	0	1	0
chr10	88913402	88913402	A	G	exonic	STAMBPL1	.	nonsynonymous SNV	STAMBPL1:NM_020799:exon6:c.A722G:p.H241R,	.	.	427	1093	2	0	0	2	0.000914077	.	.	2440918	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.48	T	0.0	B	0.002	B	0.048	N	0.999	N	0	N	2.04	T	-0.993	T	0.025	T	0.084	0.858	8.474	4.62	0.995	4.346	9.590	0.028	0.00460157451146	.	0.000199681	7.449e-05	0	0	0.0007	0	3.006e-05	0	6.14e-05	6.47e-05	10	154602	rs565075265	2.737e-05	2.736e-05	2.859e-05	2.613e-05	0.0003	2.063e-05	1.816e-05	0.0002	0.0002	0	0	0	0.0003	0	0.0002	8.095e-06	8.282e-05	0.0001	6.581e-05	6.566e-05	3.862e-05	9.425e-05	0.0012	3.522e-05	2.62e-05	0.0005	0.0003	0	0	0	0	0.0012	0	0	0	0.0005	0.0006	0.52	0.09543	T	0.523	0.10354	T	0.0	0.02946	B	0.0	0.06944	B	0.048171	0.23276	N	0.456339	0.998946	0.21775	N	1.39	0.34934	L	2.04	0.20959	T	0.69	0.02598	N	0.082	0.08366	-0.9934	0.31722	T	0.025	0.10553	T	10	0.019413859	0.00433	T	0.004602	0.11377	T	0.028	0.06331	0.159	0.06287	0.27132560031	0.26736	0.28903085050487226	0.28816	0.0875372861277	0.09878	0.34589356184	0.17316	T	5.24E-4	0.00201	T	-0.511449	0.00492	T	-0.629707	0.10436	T	0.0526284034284439	0.05956	T	0.537446	0.18074	T	0.08587969	0.19939	0.058546733	0.10836	0.08587969	0.19939	0.058546733	0.10835	-3.27	0.13353	T	.	.	0.063	0.02639	B	.;.;.;.	.;.;.;.	1.815471	0.23073	15.87	0.91822026750216523	0.21130	0.89215	0.49547	D	ALL	0.476700	0.52000	N	-0.360178678443282	0.26899	1.471723	-0.136884818929391	0.33918	1.945278	0.999999998063492	0.74766	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.75	4.62	0.56946	4.349000	0.59163	3.516000	0.38871	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	0.917000	0.45243	0.9195:0.0:0.0805:0.0	9.590	0.38706	819	0.41190	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1322.98	34	chr10	88913402	.	A	G	1322.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.29;DP=857;ExcessHet=0.0000;FS=4.257;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.80;ReadPosRankSum=1.96;SOR=1.088	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1402	20	0	1	0
chr10	89223752	89223752	T	A	exonic	LIPA	.	nonsynonymous SNV	LIPA:NM_001288979:exon5:c.A406T:p.I136L	Cholesteryl ester storage disease, Autosomal recessive;Wolman disease, Autosomal recessive	.	0	1516	5	1	0	7	0.00230339	.	.	311638	Lysosomal_acid_lipase_deficiency|Wolman_disease|not_provided|LIPA-related_disorder|Cardiovascular_phenotype|not_specified	MONDO:MONDO:0800449,MedGen:C5574740,OMIM:PS278000,Orphanet:275761|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151,Orphanet:75233|MedGen:C3661900|.|MedGen:CN230736|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.95	T	0.001	B	0.006	B	0.003	N	1.000	N	1.03	L	0.17	T	-1.028	T	0.086	T	0.325	1.239	10.03	0.721	0.103	0.020	3.687	0.047	0.00848146266177	0.0015	0.000399361	0.0014	0.0002	0.0004	0	0	0.0023	0	0.0002	0.001423	220	154602	rs147493628	0.0023	0.0023	0.0023	0.0022	0.0027	0.0022	0.0022	0.0026	0.0026	0.0004	0.0006	0.0039	0	0.0001	0.0024	0.0027	0.0021	0.0003	0.0013	0.0013	0.0013	0.0013	0.0022	0.0011	0.0011	0.0019	0.0018	0.0005	0	0.0007	0.0035	0	0.0003	0	0.0022	0.0005	0	0.745	0.04699	T	0.746	0.06511	T	0.001	0.07471	B	0.006	0.12133	B	0.002747	0.36001	N	0.299032	1	0.19694	N	0.605	0.15622	N	0.17	0.60485	T	-0.01	0.11008	N	0.231	0.27197	-1.0284	0.20973	T	0.086	0.33494	T	10	0.009458542	0.00213	T	0.008481	0.22432	T	0.047	0.12962	0.544	0.65731	0.580672568948	0.57738	0.5897337130870519	0.58903	0.144847966637	0.16365	0.398825287819	0.24905	T	0.050044	0.28483	T	-0.448894	0.01146	T	-0.420632	0.31003	T	0.00310533395039721	0.00033	T	0.147285	0.02598	T	0.22154021	0.44733	0.08148738	0.18521	0.15402415	0.34883	0.059584994	0.11206	-3.534	0.17338	T	0.14553416486940646	0.16715	0.087	0.18372	B	.;.;.;.	.;.;.;.	0.646971	0.10153	6.897	0.90716873664476094	0.19966	0.10454	0.15956	N	AEFBI	0.176282	0.30348	N	-0.966512513025583	0.09325	0.4408941	-0.930386288092485	0.11379	0.5793299	0.651274902545906	0.22166	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.57	0.721	0.17373	-0.192000	0.09585	-3.157000	0.03012	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.994000	0.71098	0.1308:0.0744:0.1364:0.6584	3.687	0.07867	862	0.33134	Alpha/beta hydrolase fold-1;.;Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1303.98	33	chr10	89223752	.	T	A	1303.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.79;DP=839;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=-7.720e-01;SOR=0.696	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1064	20	0	1	0
chr10	89705424	89705424	G	T	exonic	KIF20B	.	nonsynonymous SNV	KIF20B:NM_001284259:exon2:c.G130T:p.V44F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.788	P	0.312	B	0.026	N	0.826	N	1.935	M	2.27	T	-0.590	T	0.238	T	0.46	3.002	16.01	4.66	1.342	3.113	8.735	0.142	0.0570049604823	0.0002	.	0.0001	0	0	0	0	0.0002	0	6.063e-05	0.00011	17	154602	rs368331856	5.679e-05	5.678e-05	5.582e-05	5.776e-05	9.278e-05	4.677e-05	4.302e-05	5.074e-05	4.653e-05	0	0	0	0	0	0	6.296e-05	8.282e-05	9.278e-05	5.916e-05	5.911e-05	8.995e-05	2.691e-05	0.0001	3.078e-05	2.211e-05	6.803e-05	5.087e-05	0	0	0	0	0	0	0	0.0001	0	0	0.003	0.68238	D	0.007	0.69154	D	0.1	0.44546	B	0.032	0.41466	B	0.026000	0.25994	N	0.182483	0.825657	0.28826	N	2.38	0.68558	M	-0.32	0.68181	T	-2.39	0.53577	N	0.416	0.45615	-0.5898	0.65229	T	0.238	0.60547	T	10	0.17826456	0.32902	T	0.057005	0.66810	D	0.142	0.37995	.	.	0.561714622075	0.55833	0.4979234381712088	0.49713	0.11961603398	0.13471	0.513583898544	0.40724	T	0.138222	0.47159	T	-0.179765	0.23772	T	-0.205854	0.54091	T	0.178388290792796	0.19133	T	0.754725	0.39533	T	0.19960526	0.41905	0.17684796	0.40248	0.19960526	0.41905	0.17684796	0.40247	-3.68	0.19348	T	.	.	0.131	0.28116	B	.;.;.	.;.;.	3.625932	0.51336	23.1	0.99211976836166438	0.55624	0.87483	0.47037	D	AEFDGBI	0.345631	0.44071	N	0.174552639875458	0.49979	3.19254	0.262737875958467	0.53377	3.507012	0.999997452484698	0.74766	0.706298	0.61202	0	0.581341	0.33841	0	0.709663	0.75317	0	0.631177	0.49321	0	.	.	5.57	4.66	0.57857	3.334000	0.51814	7.479000	0.59237	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1722:0.0:0.8278:0.0	8.735	0.33684	473	0.77910	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	887.98	37	chr10	89705424	.	G	T	887.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.326e+00;DP=799;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.79;ReadPosRankSum=1.07;SOR=0.740	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1157	20	0	1	0
chr10	89738611	89738611	C	G	exonic	KIF20B	.	nonsynonymous SNV	KIF20B:NM_001382506:exon19:c.C3557G:p.T1186R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.846	P	0.387	B	0.990	N	1.000	N	1.5	L	-0.35	T	-0.816	T	0.228	T	0.241	1.257	10.10	-0.998	-0.083	-0.738	10.728	0.186	0.0531493065097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.121	0.35840	T	0.846	0.46778	P	0.387	0.44046	B	0.990300	0.08035	N	0.995188	1	0.08975	N	1.845	0.48678	L	-0.35	0.68616	T	-1.93	0.44852	N	0.182	0.19728	-0.8159	0.54189	T	0.228	0.59321	T	10	0.11608195	0.21888	T	0.053149	0.65352	D	0.186	0.46104	0.098	0.01383	0.517377062552	0.51381	0.36108062739621166	0.36022	0.100780147641	0.11386	0.281747639179	0.07738	T	0.021136	0.16515	T	-0.0953548	0.37191	T	-0.374747	0.36335	T	0.38256973028183	0.28281	T	0.728327	0.34315	T	0.0702547	0.15460	0.10299301	0.24700	0.0702547	0.15459	0.10299301	0.24699	-4.857	0.35814	T	.	.	0.096	0.24666	B	.;.	.;.	1.258617	0.16560	12.62	0.96742424189953036	0.30928	0.09727	0.15418	N	AEFGBI	0.084699	0.17166	N	-0.43496504982171	0.24253	1.308233	-0.528119772854305	0.21391	1.156957	0.999913737919209	0.45857	0.732398	0.92422	0	0.658105	0.61773	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.82	-0.998	0.09690	-0.677000	0.05315	-0.290000	0.10200	0.549000	0.26987	0.004000	0.16614	0.059000	0.21998	0.971000	0.54645	0.0:0.36:0.0:0.64	10.728	0.45279	481	0.77356	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	286.98	36	chr10	89738611	.	C	G	286.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.360e-01;DP=660;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.67;ReadPosRankSum=0.178;SOR=0.919	GT:AD:DP:GQ:PL	0/0:41,0:41:93:0,93,1395	20	0	1	0
chr10	89751441	89751441	A	C	exonic	KIF20B	.	nonsynonymous SNV	KIF20B:NM_001382506:exon23:c.A3979C:p.K1327Q	.	.	444	1071	7	0	0	7	0.00325733	.	.	2213983	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.2	T	0.525	P	0.116	B	0.009	N	1.000	N	1.59	L	-0.66	T	-0.838	T	0.213	T	0.105	2.343	13.79	4.45	1.019	4.127	13.231	0.105	0.0407118285257	0.0003	0.000399361	0.0001	0	0.0003	0	0	8.992e-05	0	0.0005	0.0001294	20	154602	rs139452485	0.0002	0.0002	0.0001	0.0002	0.0010	0.0002	0.0001	0.0007	0.0006	3.002e-05	4.561e-05	0	0	0	0.0010	0.0001	0.0002	0.0009	0.0001	0.0001	0.0001	0.0001	0.0002	6.511e-05	5.322e-05	9.06e-05	7.021e-05	0	0	0.0001	0.0003	0	0	0	0.0002	0.0005	0.0002	0.204	0.20381	T	0.161	0.31326	T	0.525	0.37610	P	0.116	0.31939	B	0.009108	0.30512	N	0.231146	0.999962	0.18878	N	1.81	0.47622	L	-0.66	0.72678	T	-1.11	0.28703	N	0.327	0.36779	-0.8378	0.52793	T	0.213	0.57334	T	10	0.028277546	0.00962	T	0.040712	0.59531	D	0.105	0.29889	.	.	0.668764436645	0.66597	0.39320674319083626	0.39235	0.157087435571	0.17741	0.469506591558	0.34612	T	0.027923	0.20342	T	-0.35895	0.04189	T	-0.406212	0.32662	T	0.0738092213869095	0.09176	T	0.691131	0.32570	T	0.1516571	0.34465	0.083652854	0.19188	0.1516571	0.34465	0.083652854	0.19187	-9.491	0.70840	D	.	.	0.135	0.35098	B	.;.	.;.	3.791898	0.54583	23.5	0.99004997461569999	0.50231	0.90031	0.50896	D	AEFDBI	0.234632	0.35736	N	-0.0876901008671605	0.37932	2.214059	-0.0227146737342411	0.38690	2.283162	0.614134452692741	0.21828	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.61	4.45	0.53365	3.563000	0.53529	3.880000	0.40234	0.756000	0.94297	1.000000	0.71638	0.998000	0.33993	0.968000	0.53726	0.6649:0.3351:0.0:0.0	13.231	0.59370	622	0.65860	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	852.98	81	chr10	89751441	.	A	C	852.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.400e-02;DP=769;ExcessHet=0.0000;FS=2.944;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=0.723;SOR=0.711	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1102	20	0	1	0
chr10	91460471	91460471	C	T	exonic	HECTD2	.	nonsynonymous SNV	HECTD2:NM_001284274:exon3:c.C313T:p.R105C	.	.	.	.	.	.	.	.	.	.	.	2714000	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	0.412	B	0.071	B	0.000	D	1.000	D	1.5	L	0.88	T	-0.878	T	0.147	T	0.638	2.002	12.65	5.39	2.502	4.872	12.164	0.123	0.0379393475035	.	.	1.649e-05	0	0	0	0	1.5e-05	0	6.064e-05	1.94e-05	3	154602	rs746716912	6.854e-06	8.209e-06	6.819e-06	6.888e-06	0.0009	3.47e-06	2.53e-06	0.0003	0.0002	0	0	0	0	0	0.0009	1.801e-06	0	3.496e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.41637	D	0.086	0.41074	T	0.032	0.20242	B	0.003	0.11217	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.55	0.14455	N	0.87	0.60485	T	-1.78	0.77143	N	0.549	0.63968	-0.8783	0.49896	T	0.147	0.47237	T	10	0.30337492	0.47869	T	0.037939	0.57921	D	0.123	0.34020	0.291	0.25241	0.221890330934	0.21812	0.5075602979203562	0.50678	0.669254724744	0.59332	0.568578541279	0.48477	T	0.019074	0.22201	T	0.0416591	0.57262	T	-0.177936	0.56714	T	0.434840172529221	0.30239	T	0.945605	0.79272	D	0.18918838	0.40449	0.08638435	0.20010	0.18918838	0.40449	0.08638435	0.20009	-5.665	0.43381	T	.	.	0.151	0.40730	B	.;.;.	.;.;.	4.398443	0.67945	25.2	0.98605365144544677	0.43559	0.91991	0.54704	D	AEFBI	0.582676	0.58220	D	0.041117662038863	0.43736	2.660657	0.17632871720819	0.48553	3.069693	0.384985509690398	0.19994	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.39	5.39	0.77615	4.927000	0.63141	5.982000	0.52185	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.805000	0.37950	0.0:0.9205:0.0:0.0795	12.164	0.53424	502	0.75873	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	742.98	33	chr10	91460471	.	C	T	742.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.677;DP=805;ExcessHet=0.0000;FS=3.755;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.88;ReadPosRankSum=1.08;SOR=1.103	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr10	91924080	91924080	G	A	exonic	BTAF1	.	nonsynonymous SNV	BTAF1:NM_003972:exon1:c.G4A:p.A2T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.91	T	0.924	P	0.827	P	0.369	N	1.000	D	0.345	N	-2.64	D	-0.249	T	0.667	D	0.453	2.076	12.90	4.87	2.673	3.880	13.714	0.308	0.257560416481	.	.	4.834e-05	0	0	0	0.0008	1.746e-05	0	0	3.23e-05	5	154602	rs768069784	1.716e-05	1.71e-05	1.912e-05	1.518e-05	1.801e-06	1.178e-05	9.96e-06	3e-07	1.1e-07	0	0	0	0	0.0004	0	1.801e-06	4.986e-05	0	2.627e-05	2.626e-05	0	5.377e-05	.	8.14e-06	5.14e-06	.	.	0	0	0	0	0	0.0004	0	0	0	0	0.338	0.12796	T	0.677	0.06166	T	0.924	0.51285	P	0.827	0.59428	P	0.369350	0.04352	N	1.427800	0.760265	0.34030	D	0.975	0.24501	L	-2.64	0.90147	D	0.06	0.06253	N	0.299	0.33796	-0.2491	0.76384	T	0.667	0.88464	D	10	0.26980904	0.44509	T	0.25756	0.89374	D	0.308	0.62947	0.235	0.16457	0.772278745835	0.77019	0.2640749129952928	0.26320	0.467549981504	0.46130	0.789775013924	0.80409	T	0.084996	0.37402	T	0.0884912	0.63018	D	-0.110665	0.62558	T	0.246657092814819	0.22723	T	0.874613	0.58533	D	0.17055058	0.37636	0.23796746	0.49107	0.17055058	0.37636	0.23796746	0.49106	-3.996	0.23744	T	.	.	0.550	0.66790	A	.	.	3.593751	0.50721	23.0	0.97349783419247471	0.33515	0.86883	0.46264	D	ALL	0.181476	0.30879	N	0.250626386748515	0.53669	3.534872	0.330521481217481	0.57339	3.899435	0.999999999998988	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.87	4.87	0.62877	3.904000	0.56038	11.310000	0.92434	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	13.714	0.62163	904	0.23766	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	985.98	34	chr10	91924080	.	G	A	985.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.693e+00;DP=790;ExcessHet=0.0000;FS=0.797;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=2.15;SOR=0.601	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1080	20	0	1	0
chr10	91984397	91984397	G	T	exonic	BTAF1	.	nonsynonymous SNV	BTAF1:NM_003972:exon19:c.G2420T:p.S807I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.0	B	0.0	B	0.000	D	1.000	D	0	N	-2.59	D	-0.661	T	0.363	T	0.227	0.590	7.183	3.39	1.034	4.207	7.831	0.290	0.0270058691097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.10020	T	0.432	0.13634	T	0.0	0.02946	B	0.0	0.01387	B	0.000001	0.62929	D	0.095896	0.898275	0.27751	N	0.895	0.22405	L	-2.59	0.89822	D	-1.06	0.27669	N	0.269	0.30461	-0.6609	0.62236	T	0.363	0.72422	T	10	0.11601579	0.21873	T	0.027006	0.49866	D	0.290	0.60924	0.406	0.43902	0.369524611565	0.36568	0.391409457940961	0.39055	0.58120297917	0.53933	0.32369685173	0.13981	T	0.077812	0.35743	T	-0.0157143	0.49463	T	-0.260349	0.48789	T	0.183698043227196	0.19466	T	0.872413	0.57909	D	0.08219725	0.18923	0.07404366	0.16156	0.08219725	0.18923	0.07404366	0.16156	-4.457	0.30322	T	.	.	0.124	0.26106	B	.;.	.;.	2.288744	0.29275	18.07	0.87087147069446291	0.16979	0.91023	0.52710	D	AEFGBI	0.204213	0.33067	N	-0.524644195592566	0.21284	1.128486	-0.293897442204586	0.28300	1.576884	0.662931346301893	0.22291	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.82	3.39	0.37919	4.181000	0.58100	6.884000	0.56822	-0.116000	0.14526	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.7887:0.1385:0.0728:0.0	7.831	0.28502	922	0.19044	Domain of unknown function DUF3535;Domain of unknown function DUF3535	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1739.98	35	chr10	91984397	.	G	T	1739.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.86;DP=809;ExcessHet=0.0000;FS=1.576;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.50;ReadPosRankSum=-1.155e+00;SOR=0.908	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1332	20	0	1	0
chr10	92192516	92192516	T	C	exonic	CPEB3	.	nonsynonymous SNV	CPEB3:NM_014912:exon3:c.A1126G:p.M376V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.003	B	0.006	B	0.000	D	1.000	D	0	N	1.03	T	-1.062	T	0.051	T	0.583	1.432	10.73	4.94	2.326	4.479	10.351	0.132	0.00736924497271	.	.	2.472e-05	0	0	0	0	1.499e-05	0	0.0001	3.23e-05	5	154602	rs556852509	1.779e-05	1.847e-05	1.634e-05	1.925e-05	0.0002	1.238e-05	1.051e-05	8.886e-05	7.054e-05	0	2.236e-05	0	0	0	0	9.893e-06	1.656e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.656	0.04757	T	0.566	0.08930	T	0.003	0.11197	B	0.006	0.12133	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.1	0.28011	L	1.03	0.40469	T	-0.39	0.13611	N	0.564	0.58798	-1.0622	0.11215	T	0.051	0.21883	T	10	0.19268301	0.35006	T	0.007369	0.19550	T	0.132	0.35948	0.298	0.26362	0.514969635325	0.51138	0.7937309871934062	0.79326	0.606460133033	0.55494	0.66066801548	0.61505	T	0.006868	0.06296	T	-0.270411	0.11711	T	-0.351904	0.38988	T	0.063394910186797	0.07691	T	0.822818	0.48291	T	0.20483685	0.42607	0.18930668	0.42270	0.20483685	0.42606	0.18930668	0.42269	-4.321	0.28470	T	.	.	0.069	0.03026	B	.;.	.;.	4.254814	0.64612	24.7	0.92858008957445926	0.22399	0.93073	0.57259	D	AEFGI	0.598545	0.59190	D	-0.217634420337609	0.32410	1.82751	0.0395149810325275	0.41568	2.499501	0.981966682718106	0.30334	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	6.06	4.94	0.64645	4.463000	0.59863	5.090000	0.47345	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0732:0.0:0.9268	10.351	0.43122	861	0.33516	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1193.98	34	chr10	92192516	.	T	C	1193.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=806;ExcessHet=0.0000;FS=3.295;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.63;ReadPosRankSum=1.60;SOR=0.528	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1155	20	0	1	0
chr10	92534765	92534765	T	C	exonic	IDE	.	nonsynonymous SNV	IDE:NM_001322793:exon3:c.A304G:p.N102D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.008	B	0.000	D	1.000	D	-0.965	N	2.36	T	-1.014	T	0.016	T	0.319	1.086	9.435	5.93	2.263	8.015	16.377	0.152	0.00331103804573	.	.	8.277e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs750183140	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.716	0.03972	T	0.815	0.03886	T	0.002	0.09854	B	0.008	0.13708	B	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.65	0.02095	N	2.36	0.16089	T	1.17	0.01263	N	0.711	0.71410	-1.0139	0.25688	T	0.016	0.06473	T	10	0.1479555	0.28026	T	0.003311	0.07359	T	0.152	0.39956	0.364	0.37036	0.184867976434	0.18130	0.38046879796193095	0.37961	0.354138918125	0.37196	0.829727649689	0.86520	D	0.085194	0.37447	T	-0.17261	0.24842	T	-0.485719	0.23840	T	0.215504326213921	0.21237	T	0.893711	0.71149	D	0.505981	0.67445	0.38379207	0.63335	0.505981	0.67446	0.38379207	0.63335	-0.826	0.00826	T	.	.	0.096	0.18705	B	.;.;.	.;.;.	2.246046	0.28689	17.88	0.54479702641004157	0.05146	0.99093	0.91122	D	AEFGBI	0.875704	0.79928	D	-0.301850979893433	0.29077	1.609378	0.0176328575057537	0.40534	2.420578	0.999999980656412	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.93	5.93	0.95888	7.986000	0.87787	4.160000	0.42205	-0.112000	0.15009	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.377	0.83235	647	0.63344	.;Peptidase M16, N-terminal|Peptidase M16, zinc-binding site;Peptidase M16, N-terminal|Peptidase M16, zinc-binding site	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	795.98	33	chr10	92534765	.	T	C	795.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=754;ExcessHet=0.0000;FS=3.564;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-3.000e-02;SOR=1.302	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1214	20	0	1	0
chr10	92637538	92637538	A	T	exonic	KIF11	.	nonsynonymous SNV	KIF11:NM_004523:exon16:c.A2153T:p.H718L,	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	253912	not_specified|Microcephaly_with_or_without_chorioretinopathy,_lymphedema,_or_intellectual_disability|not_provided	MedGen:CN169374|MONDO:MONDO:0007918,MedGen:C1835265,OMIM:152950,Orphanet:2526|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.36	T	0.716	P	0.232	B	0.001	D	1.000	D	0.805	L	0.2	T	-1.084	T	0.042	T	0.369	1.388	10.57	4.55	2.035	4.511	10.447	0.089	.	.	0.00778754	0.0022	9.658e-05	8.657e-05	0.0294	0	0	0.0022	0.0005	0.0021798	337	154602	rs116942055	0.0008	0.0008	0.0008	0.0008	0.0229	0.0007	0.0007	0.0217	0.0212	3.072e-05	0	0	0.0229	0	0	1.353e-05	0.0028	0.0005	0.0012	0.0012	0.0011	0.0013	0.0297	0.0011	0.0010	0.0258	0.0244	0.0001	0	0.0010	0	0.0297	0	0	7.349e-05	0.0014	0.0010	0.141	0.25560	T	0.553	0.09329	T	0.716	0.42206	P	0.232	0.38314	B	0.000773	0.41888	D	0.238470	0.999977	0.53665	D	1.975	0.53506	M	0.2	0.60111	T	-0.79	0.21860	N	0.422	0.46180	-1.0841	0.06572	T	0.042	0.18202	T	10	0.004766315	0.00101	T	.	.	.	0.089	0.25827	.	.	0.547203082319	0.54374	0.6200144964925588	0.61934	0.361961458071	0.37848	0.461340606213	0.33494	T	0.122092	0.44552	T	-0.377604	0.03226	T	-0.290803	0.45689	T	0.0205311435566458	0.00753	T	0.476352	0.14285	T	0.099239774	0.23417	0.09250361	0.21802	0.099239774	0.23417	0.09250361	0.21802	-2.669	0.07046	T	0.12563107142854985	0.12533	0.133	0.28807	B	.	.	3.563566	0.50150	22.9	0.96105876353627695	0.28727	0.96722	0.70589	D	AEFDGBI	0.336434	0.43455	N	0.0559622864744405	0.44418	2.716178	0.144184862883595	0.46835	2.923061	0.992323589605736	0.32799	0.706298	0.61202	0	0.724815	0.89359	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	4.55	4.55	0.55429	4.406000	0.59506	10.761000	0.83698	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	1.0:0.0:0.0:0.0	10.447	0.43689	522	0.74218	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1984.98	39	chr10	92637538	.	A	T	1984.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.283;DP=917;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=0.663;SOR=0.663	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1162	20	0	1	0
chr10	92645374	92645374	A	T	exonic	KIF11	.	nonsynonymous SNV	KIF11:NM_004523:exon18:c.A2279T:p.D760V,	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1017338	Microcephaly_with_or_without_chorioretinopathy,_lymphedema,_or_intellectual_disability	MONDO:MONDO:0007918,MedGen:C1835265,OMIM:152950,Orphanet:2526	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.025	B	0.012	B	0.029	N	1.000	D	0.975	L	-0.28	T	-0.905	T	0.174	T	0.532	0.261	5.410	4.28	0.996	1.847	8.289	0.269	0.0315323094256	.	.	8.687e-06	0	0	0	0	1.557e-05	0	0	6.5e-06	1	154602	rs778431479	2.06e-06	2.736e-06	2.733e-06	1.38e-06	2.707e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.29823	T	0.268	0.22494	T	0.025	0.19245	B	0.012	0.16012	B	0.028861	0.25537	N	0.391181	0.999974	0.53665	D	2.08	0.57402	M	-0.28	0.67543	T	-1.71	0.40660	N	0.339	0.38027	-0.9048	0.47470	T	0.174	0.51753	T	10	0.1615372	0.30297	T	0.031532	0.53588	D	0.269	0.58381	0.305	0.27485	0.78337150305	0.78137	0.4219844732688109	0.42115	0.426311001703	0.43007	0.465039908886	0.34001	T	0.207168	0.56673	T	0.0139954	0.53569	T	-0.217673	0.52961	T	0.269843339920044	0.23740	T	0.663534	0.27241	T	0.103693046	0.24510	0.082842395	0.18938	0.103693046	0.24510	0.082842395	0.18937	-4.873	0.35430	T	0.15862312371920093	0.19233	0.088	0.11893	B	.	.	2.307311	0.29529	18.15	0.72815829482232486	0.10106	0.87807	0.47474	D	AEGBI	0.111593	0.22089	N	-0.365400240021957	0.26710	1.459827	-0.24619588319579	0.29902	1.679128	0.999865623998142	0.44398	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.41	4.28	0.50183	2.048000	0.40903	6.148000	0.54152	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.91:0.0:0.09:0.0	8.289	0.31106	518	0.74548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	832.98	39	chr10	92645374	.	A	T	832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.111;DP=766;ExcessHet=0.0000;FS=2.075;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.73;ReadPosRankSum=1.44;SOR=0.968	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1205	20	0	1	0
chr10	92690021	92690021	C	A	exonic	HHEX	.	nonsynonymous SNV	HHEX:NM_002729:exon1:c.C35A:p.A12D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.089	B	0.016	B	0.084	N	1.000	D	0	N	-2.75	D	-0.316	T	0.451	T	0.481	1.760	11.84	2.66	1.798	2.313	14.074	0.373	0.987234161145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.27080	T	0.398	0.15109	T	0.089	0.25085	B	0.016	0.17743	B	0.084313	0.20704	N	0.411728	0.877476	0.35683	D	1.39	0.34934	L	-2.75	0.90792	D	-0.67	0.19297	N	0.373	0.41459	-0.3155	0.74548	T	0.451	0.78497	T	10	0.35033876	0.51907	T	0.987234	0.99945	D	0.373	0.69188	0.261	0.20473	0.956807828185	0.95634	0.40263107456511144	0.40179	1.00153183051	0.74427	0.894588589668	0.95818	D	0.441009	0.78571	T	0.0748936	0.61437	D	-0.130197	0.60956	T	0.132907806141168	0.15649	T	0.351965	0.07883	T	0.331169	0.55566	0.4418258	0.67454	0.331169	0.55566	0.4418258	0.67454	-7.143	0.55071	T	.	.	0.351	0.56612	A	.	.	2.813064	0.37040	20.4	0.96425366790867872	0.29775	0.86421	0.45698	D	AEFBHCIJ	0.511912	0.54034	D	-0.473477840998057	0.22953	1.229165	-0.345543020141886	0.26646	1.47322	0.999999999999949	0.74766	0.437478	0.07067	0	0.552344	0.17405	0	0.606814	0.37721	0	0.56214	0.19341	0	.	.	2.66	2.66	0.30672	0.341000	0.19652	5.467000	0.48687	0.436000	0.21017	0.013000	0.18845	0.999000	0.35428	0.839000	0.39591	0.0:1.0:0.0:0.0	14.074	0.64404	850	0.35610	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	891.98	35	chr10	92690021	.	C	A	891.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.760e+00;DP=796;ExcessHet=0.0000;FS=2.199;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=-6.230e-01;SOR=0.425	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	20	0	1	0
chr10	92948278	92948278	A	G	exonic	EXOC6	.	nonsynonymous SNV	EXOC6:NM_001319200:exon10:c.A1006G:p.I336V	.	.	441	1068	13	0	0	13	0.00604933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.736	P	0.272	B	0.000	D	1.000	D	2.235	M	1.57	T	-0.992	T	0.102	T	0.328	2.863	15.54	5.97	2.288	7.121	16.450	0.086	0.0107221954924	7.7e-05	0.00119808	0.0010	0	0.0003	0	0	0.0002	0	0.0061	0.0008279	128	154602	rs374378240	0.0006	0.0006	0.0004	0.0007	0.0064	0.0005	0.0005	0.0059	0.0057	0	4.66e-05	0	2.546e-05	0	0.0012	0.0002	0.0007	0.0064	0.0003	0.0003	0.0002	0.0003	0.0054	0.0002	0.0002	0.0038	0.0032	2.407e-05	0	0.0001	0	0	0	0.0034	0.0001	0	0.0054	0.095	0.33753	T	0.139	0.33780	T	0.589	0.39027	P	0.145	0.35644	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.405	0.69568	M	1.57	0.29342	T	-0.77	0.21429	N	0.359	0.40465	-0.9915	0.32218	T	0.102	0.37768	T	10	0.008866757	0.00201	T	0.010722	0.27578	T	0.086	0.25016	.	.	0.472181857204	0.46848	0.4286992985282923	0.42786	0.261388961948	0.28688	0.484101235867	0.36622	T	0.203135	0.56152	T	-0.418407	0.01751	T	-0.372146	0.36637	T	0.0963046064575868	0.11945	T	0.877312	0.61581	D	0.15444303	0.34956	0.14967111	0.35330	0.15444303	0.34955	0.14967111	0.35329	-2.811	0.08285	T	.	.	0.117	0.38062	B	.;.;.	.;.;.	3.656199	0.51914	23.2	0.99731343449587162	0.82761	0.98359	0.81978	D	AEFBI	0.819122	0.74021	D	0.405504452846476	0.61724	4.377466	0.511815987788685	0.68785	5.268093	0.898217046176893	0.26020	0.732398	0.92422	0	0.573888	0.26702	0	0.618467	0.43123	0	0.727631	0.95156	0	.	.	5.97	5.97	0.96935	7.104000	0.76667	9.319000	0.80028	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	1.0:0.0:0.0:0.0	16.450	0.83825	827	0.39843	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	558.98	30	chr10	92948278	.	A	G	558.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.930e-01;DP=685;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=-1.147e+00;SOR=0.784	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,985	20	0	1	0
chr10	93359891	93359891	C	T	exonic	MYOF	.	nonsynonymous SNV	MYOF:NM_133337:exon28:c.G3023A:p.R1008Q	.	.	429	1090	3	0	0	3	0.00137426	.	.	2364553	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.961	D	0.000	D	1.000	D	3.035	M	-2.72	D	0.919	D	0.872	D	0.511	4.940	28.7	5.36	2.797	2.888	19.275	0.632	0.179128344014	8.2e-05	.	5.796e-05	0.0001	0.0002	0	0	5.993e-05	0	0	4.53e-05	7	154602	rs375030658	6.362e-05	6.43e-05	5.989e-05	6.738e-05	0.0009	5.294e-05	4.911e-05	0.0003	0.0002	5.974e-05	0.0002	0	0	0	0.0009	6.475e-05	1.656e-05	5.797e-05	7.23e-05	7.224e-05	0.0001	4.037e-05	0.0001	3.972e-05	3.128e-05	3.761e-05	2.575e-05	4.828e-05	0	0.0001	0	0	0	0	8.819e-05	0.0005	0	0.002	0.72154	D	0.004	0.74150	D	0.998	0.73220	D	0.961	0.70482	D	0.000002	0.62929	D	0.056748	0.999634	0.51042	D	3.135	0.88152	M	-2.73	0.90679	D	-3.36	0.66549	D	0.481	0.51583	0.919	0.95938	D	0.872	0.95728	D	10	0.5152536	0.62328	D	0.179128	0.85402	D	0.632	0.85872	.	.	0.946293507838	0.94572	0.8263966383472687	0.82597	0.576477160469	0.53601	0.570311069489	0.48721	T	0.579339	0.86200	D	-0.0148606	0.49581	T	-0.00407677	0.70072	D	0.888023257255554	0.53858	D	0.994912	0.98266	D	0.6591474	0.75853	0.51893735	0.72205	0.6591474	0.75854	0.51893735	0.72206	-10.422	0.76398	D	.	.	0.336	0.55603	B	.;.	.;.	4.880043	0.80021	27.2	0.99949069887582298	0.99931	0.91265	0.53185	D	AEFBI	0.369748	0.45636	N	0.758359698567639	0.83450	8.020288	0.711659295013852	0.83265	7.976407	0.999997488087667	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	5.36	5.36	0.76624	2.884000	0.48261	5.960000	0.51806	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.275	0.94015	572	0.70300	.;Peroxin/Ferlin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2650.98	33	chr10	93359891	.	C	T	2650.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.930e-01;DP=901;ExcessHet=0.0000;FS=2.575;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.41;ReadPosRankSum=2.79;SOR=0.557	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr10	93408801	93408801	G	A	exonic	MYOF	.	nonsynonymous SNV	MYOF:NM_013451:exon7:c.C715T:p.P239S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.44	M	-3.83	D	1.077	D	0.948	D	0.978	5.181	32	5.62	2.933	9.595	19.880	0.952	0.574174226941	.	.	6.627e-05	0	8.639e-05	0	0	1.499e-05	0	0.0004	5.82e-05	9	154602	rs201956372	2.189e-05	2.189e-05	1.225e-05	3.163e-05	0.0003	1.584e-05	1.356e-05	0.0002	0.0002	0	0	0	0	0	0	1.799e-06	3.311e-05	0.0003	1.97e-05	1.969e-05	3.856e-05	0	0.0006	5.24e-06	2.45e-06	0.0002	9.003e-05	0	0	0	0	0	0	0	0	0	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.27	0.90083	M	-3.83	0.95794	D	-6.95	0.95765	D	0.93	0.93487	1.077	0.98782	D	0.948	0.98318	D	10	0.98156637	0.98189	D	0.574174	0.96160	D	0.952	0.99124	0.878	0.96734	0.943438388223	0.94285	0.8182579569794536	0.81782	0.656793466026	0.58660	0.728578925133	0.71299	T	0.765584	0.93684	D	0.340705	0.85885	D	0.556171	0.95784	D	0.864844365145461	0.51499	D	0.971503	0.89686	D	0.85636944	0.87810	0.78491455	0.87330	0.85636944	0.87812	0.78491455	0.87331	-9.873	0.73148	D	.	.	0.965	0.90737	P	.;.;.	.;.;.	4.460877	0.69433	25.4	0.99919404540069234	0.98654	0.97281	0.73769	D	AEFDBCI	0.928221	0.91212	D	1.07147621189568	0.97570	16.35741	1.01037684574946	0.98818	19.48955	1.0	0.98316	0.631515	0.41029	0	0.573888	0.26702	0	0.602189	0.34648	0	0.741806	0.99463	0	.	.	5.62	5.62	0.85714	9.999000	0.99362	11.844000	0.97886	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.825000	0.38878	0.0:0.0:1.0:0.0	19.880	0.96889	477	0.77662	.;C2 domain|C2 domain|C2 domain|Ferlin, second C2 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1488.98	36	chr10	93408801	.	G	A	1488.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.331;DP=799;ExcessHet=0.0000;FS=1.641;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.32;ReadPosRankSum=-1.538e+00;SOR=0.517	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1234	20	0	1	0
chr10	93662069	93662069	T	C	exonic	PDE6C	.	nonsynonymous SNV	PDE6C:NM_006204:exon19:c.T2219C:p.M740T,	Cone dystrophy 4, Autosomal recessive	.	1	1520	1	0	0	1	0.000328839	.	.	1274603	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.213	B	0.243	B	0.009	N	1.000	D	1.155	L	-1.0	T	-0.471	T	0.295	T	0.315	2.503	14.33	3.79	2.095	5.767	10.924	0.430	0.0450051376222	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1408988078	6.879e-06	7.525e-06	8.222e-06	5.526e-06	2.237e-05	3.48e-06	2.54e-06	8.5e-07	5.7e-07	0	2.237e-05	3.836e-05	0	0	0	3.621e-06	4.991e-05	1.161e-05	1.971e-05	1.97e-05	2.57e-05	1.345e-05	0.0002	5.24e-06	2.45e-06	.	.	2.413e-05	0	0	0	0.0002	0	0	1.47e-05	0	0	0.001	0.78490	D	0.007	0.69154	D	0.213	0.30041	B	0.243	0.38752	B	0.009444	0.30355	N	0.391321	0.999906	0.50806	D	1.61	0.41143	L	-1.0	0.76037	T	-3.3	0.65858	D	0.501	0.53357	-0.4706	0.69704	T	0.295	0.66650	T	10	0.41426858	0.56434	T	0.045005	0.61769	D	0.430	0.73662	0.549	0.66436	0.862180089125	0.86084	0.5469892346039766	0.54624	0.39766254936	0.40849	0.63822478056	0.58312	T	0.591386	0.86769	D	-0.0474418	0.44835	T	-0.223058	0.52442	T	0.957920551300049	0.65136	D	0.928907	0.73860	D	0.57008237	0.71065	0.69877106	0.82256	0.57008237	0.71067	0.69877106	0.82257	-10.381	0.76161	D	0.3901883889531604	0.48347	0.322	0.54631	B	.	.	3.892178	0.56638	23.8	0.97948876139243335	0.37085	0.99242	0.93326	D	AEFI	0.781659	0.71318	D	0.123200309800971	0.47546	2.978862	0.246626043091975	0.52458	3.42046	0.135099291248802	0.17166	0.475973	0.10046	0	0.601575	0.49859	0	0.550215	0.18615	0	0.528226	0.09195	0	.	.	4.98	3.79	0.42757	5.930000	0.69823	4.245000	0.42727	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1399:0.0:0.0:0.8601	10.924	0.46395	378	0.83833	3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|HD/PDEase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1159.98	35	chr10	93662069	.	T	C	1159.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.435e+00;DP=787;ExcessHet=0.0000;FS=5.088;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=1.47;SOR=0.396	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1377	20	0	1	0
chr10	93663161	93663161	A	G	exonic	PDE6C	.	nonsynonymous SNV	PDE6C:NM_006204:exon21:c.A2501G:p.E834G,	Cone dystrophy 4, Autosomal recessive	.	0	1506	13	3	0	19	0.00626856	.	.	253923	not_specified|Cone_dystrophy_4|Achromatopsia|not_provided	MedGen:CN169374|MONDO:MONDO:0013129,MedGen:C2751308,OMIM:613093,Orphanet:49382|Human_Phenotype_Ontology:HP:0011516,MONDO:MONDO:0018852,MedGen:C0152200,Orphanet:49382|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.15	T	0.974	D	0.563	P	0.000	D	1.000	D	1.995	M	-1.05	T	-0.167	T	0.435	T	0.29	2.489	14.28	4.88	2.038	8.257	14.31	0.349	0.146264795559	0.0026	0.00119808	0.0022	0.0015	0.0017	0.0023	0	0.0025	0.0092	0.0025	0.0020051	310	154602	rs148661165	0.0025	0.0025	0.0024	0.0025	0.0024	0.0024	0.0024	0.0024	0.0023	0.0013	0.0014	0.0113	0.0008	0.0002	0.0023	0.0024	0.0041	0.0022	0.0022	0.0022	0.0023	0.0021	0.0043	0.0020	0.0019	0.0029	0.0024	0.0016	0	0.0020	0.0104	0.0043	0.0002	0	0.0024	0.0033	0.0010	0.027	0.46513	D	0.041	0.50514	D	0.974	0.57829	D	0.563	0.49647	P	0.000010	0.62929	D	0.146783	0.999982	0.54805	D	2.485	0.72352	M	-1.05	0.76690	T	-2.36	0.52128	N	0.551	0.57690	-0.1665	0.78512	T	0.435	0.77549	T	10	0.009043366	0.00205	T	0.146265	0.82839	D	0.349	0.67049	.	.	0.81012925684	0.80834	0.5338352801949692	0.53308	0.395339904105	0.40677	0.339487344027	0.16362	T	0.28744	0.66024	T	-0.312381	0.07540	T	-0.215375	0.53180	T	0.0334035889634961	0.02537	T	0.490351	0.15073	T	0.18712704	0.40154	0.2598989	0.51745	0.17072251	0.37664	0.2765439	0.53599	-4.718	0.33622	T	.	.	0.066	0.02313	B	.	.	3.824245	0.55237	23.6	0.99668016425738792	0.78394	0.99747	0.99164	D	AEFBI	0.892323	0.82914	D	0.504497503460906	0.67354	5.070623	0.489716495462951	0.67305	5.066533	0.998871454868189	0.37868	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	4.88	4.88	0.63131	8.527000	0.90409	9.126000	0.78857	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.860000	0.40782	1.0:0.0:0.0:0.0	14.31	0.65966	375	0.84013	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	854.98	34	chr10	93663161	.	A	G	854.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=779;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=0.739;SOR=0.797	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1448	20	0	1	0
chr10	93692719	93692719	T	C	exonic	FRA10AC1	.	nonsynonymous SNV	FRA10AC1:NM_001347712:exon6:c.A307G:p.K103E	.	.	.	.	.	.	.	.	.	.	.	3250818	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.978	D	0.000	D	1.000	D	2.51	M	1.69	T	-0.648	T	0.208	T	0.815	4.582	24.9	5.26	1.991	7.540	15.182	0.481	0.0278162905695	0.0002	.	0.0002	0	8.688e-05	0	0	6.007e-05	0	0.0012	0.0001682	26	154602	rs374011831	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0002	0.0008	0.0007	0	2.702e-05	0	0	0	0	0.0002	6.768e-05	0.0010	7.222e-05	7.218e-05	6.424e-05	8.056e-05	0.0006	3.968e-05	3.125e-05	0.0002	8.992e-05	9.621e-05	0	0	0	0	0	0	5.881e-05	0	0.0006	0.003	0.68238	D	0.005	0.72224	D	0.999	0.77913	D	0.978	0.74104	D	0.000000	0.84330	D	0.044611	0.99998	0.54805	D	3.135	0.88152	M	1.61	0.28391	T	-3.68	0.70314	D	0.806	0.80180	-0.6477	0.62814	T	0.208	0.56690	T	10	0.550218	0.64213	D	0.027816	0.50582	D	0.481	0.77142	.	.	0.473458370588	0.46973	0.7497962093464947	0.74926	0.435720000412	0.43672	0.620463371277	0.55795	T	0.112762	0.42928	T	-0.150439	0.28241	T	-0.0452196	0.67349	D	0.446792654183956	0.30679	T	0.89601	0.63722	D	0.68662673	0.77327	0.6703496	0.80658	0.68662673	0.77329	0.6703496	0.80659	-11.579	0.82740	D	.	.	0.525	0.65701	A	.	.	4.706226	0.75561	26.4	0.99900897284293799	0.97275	0.98334	0.81734	D	AEFBI	0.895483	0.83555	D	0.767542380436979	0.84040	8.178494	0.729028935208232	0.84581	8.332532	0.999787337853467	0.43007	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	5.26	0.73479	7.564000	0.81307	7.897000	0.73349	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	15.182	0.72649	191	0.92559	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1099.98	33	chr10	93692719	.	T	C	1099.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.343e+00;DP=791;ExcessHet=0.0000;FS=0.822;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.09;ReadPosRankSum=0.00;SOR=0.540	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1194	20	0	1	0
chr10	94321979	94321979	G	C	exonic	PLCE1	.	nonsynonymous SNV	PLCE1:NM_001165979:exon29:c.G5497C:p.V1833L	Nephrotic syndrome, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.78	P	0.73	P	0.000	D	1.000	D	2.25	M	1.01	T	-0.672	T	0.244	T	0.579	5.028	29.7	5.83	2.759	7.469	19.730	0.205	0.0189235685289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.014	0.62352	D	0.78	0.44271	P	0.73	0.55268	P	0.000105	0.50451	D	0.132195	0.999986	0.81001	D	2.63	0.76995	M	1.01	0.41058	T	-2.25	0.52289	N	0.751	0.75009	-0.6717	0.61752	T	0.244	0.61213	T	10	0.5467353	0.64026	D	0.018924	0.41136	T	0.205	0.49236	0.543	0.65589	0.747070109847	0.74478	0.6048592940422401	0.60416	1.26695969164	0.82193	0.633597254753	0.57656	T	0.324846	0.69562	T	0.0042755	0.52243	T	-0.231635	0.51614	T	0.976579189300537	0.71442	D	0.954005	0.82493	D	0.69014084	0.77519	0.7079017	0.82775	0.69014084	0.77521	0.7079017	0.82776	-9.498	0.70846	D	0.738298696403825	0.82029	0.949	0.88272	P	.;.;.	.;.;.	4.423125	0.68520	25.2	0.99781410050862995	0.86780	0.95019	0.63143	D	AEFBCI	0.891921	0.82836	D	0.680198785122773	0.78336	6.850791	0.729936823902677	0.84651	8.351917	0.999992690520154	0.74766	0.460665	0.09802	0	0.577304	0.33150	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.83	5.83	0.93059	7.588000	0.81905	11.837000	0.97708	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.730	0.96172	390	0.83257	Ras-associating (RA) domain|Ras-associating (RA) domain|Ras-associating (RA) domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1063.98	33	chr10	94321979	.	G	C	1063.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.328;DP=799;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.23;ReadPosRankSum=1.91;SOR=0.706	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1223	20	0	1	0
chr10	94334258	94334258	C	G	exonic	NOC3L	.	nonsynonymous SNV	NOC3L:NM_022451:exon21:c.G2322C:p.Q774H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.162	B	0.382	B	0.011	N	0.996	N	1.795	L	2.71	T	-0.965	T	0.042	T	0.127	0.841	8.397	-9.91	-2.775	-1.765	15.468	0.063	0.00567650125638	.	.	4.151e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs769879277	2.331e-05	2.531e-05	1.364e-05	3.308e-05	0.0004	1.678e-05	1.481e-05	0.0003	0.0002	0	2.252e-05	0	2.522e-05	0	0	0	0	0.0004	1.315e-05	1.314e-05	0	2.691e-05	0.0004	2.18e-06	8.2e-07	7.299e-05	3.032e-05	0	0	0	0	0	0	0	0	0	0.0004	0.044	0.41096	D	0.113	0.36901	T	0.162	0.28404	B	0.382	0.43908	B	0.010706	0.29815	N	0.302665	0.996346	0.43151	D	2.075	0.57047	M	2.71	0.12055	T	-1.44	0.35399	N	0.112	0.09914	-0.9645	0.38310	T	0.042	0.17994	T	10	0.031232357	0.01256	T	0.005677	0.14712	T	0.063	0.18251	0.213	0.13210	0.183819452728	0.17975	0.2785668335706863	0.27769	0.234649144047	0.26005	0.239020898938	0.02703	T	0.007154	0.06566	T	-0.512162	0.00488	T	-0.667485	0.07770	T	0.079589043076283	0.09934	T	0.515049	0.16594	T	0.047765307	0.08218	0.073436834	0.15957	0.047765307	0.08217	0.073436834	0.15956	-4.83	0.34939	T	.	.	0.088	0.11893	B	.	.	-1.365106	0.00386	0.007	0.81745089667287985	0.13838	0.04053	0.09499	N	AEFGBI	0.059448	0.11230	N	-1.7783136558879	0.00600	0.02587071	-1.97058923462404	0.00353	0.01558293	0.999861866179209	0.44398	0.732398	0.92422	0	0.743671	0.97443	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	4.96	-9.91	0.00379	-1.834000	0.01787	-4.183000	0.02295	-2.556000	0.00246	0.017000	0.19353	0.000000	0.08366	0.057000	0.15750	0.0:0.6722:0.1013:0.2265	15.468	0.75149	406	0.82375	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	381.98	33	chr10	94334258	.	C	G	381.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.729e+00;DP=730;ExcessHet=0.0000;FS=4.519;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.49;ReadPosRankSum=1.35;SOR=0.240	GT:AD:DP:GQ:PL	0/1:26,19:45:99:396,0,682	20	0	1	0
chr10	94357291	94357291	T	C	exonic	NOC3L	.	nonsynonymous SNV	NOC3L:NM_022451:exon4:c.A391G:p.I131V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.013	B	0.007	B	0.000	D	1.000	D	0.55	N	2.8	T	-1.021	T	0.019	T	0.067	0.780	8.115	5.05	2.013	3.622	15.092	0.061	0.00522081485096	.	.	1.669e-05	0	0	0	0	3.036e-05	0	0	1.29e-05	2	154602	rs748758791	4.821e-06	5.472e-06	5.48e-06	4.155e-06	7.147e-05	2.01e-06	1.29e-06	3.063e-05	2.083e-05	0	0	0	0	0	0	0	1.668e-05	7.147e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.94e-05	0	0	1.0	0.00964	T	0.46	0.12597	T	0.013	0.16609	B	0.007	0.12992	B	0.000053	0.53742	D	0.173732	0.888493	0.35900	D	1.655	0.42436	L	2.8	0.11082	T	0.07	0.06138	N	0.321	0.36148	-1.0209	0.23421	T	0.019	0.08079	T	10	0.068308085	0.09642	T	0.005221	0.13310	T	0.061	0.17616	0.305	0.27485	0.220303561663	0.21668	0.053760521104757555	0.05318	0.0644950670279	0.07196	0.546593546867	0.45376	T	0.011966	0.10596	T	-0.377998	0.03207	T	-0.675459	0.07263	T	0.171227559447289	0.18663	T	0.781422	0.41649	T	0.027766254	0.02015	0.047985304	0.07030	0.027766254	0.02015	0.047985304	0.07030	-2.645	0.06853	T	.	.	0.073	0.04764	B	.	.	1.638973	0.20919	14.97	0.93047234379616517	0.22653	0.90175	0.51147	D	AEDGBI	0.279521	0.39355	N	-0.274208709181526	0.30147	1.678316	-0.0659265928633461	0.36808	2.14691	0.998769910276213	0.37623	0.732398	0.92422	0	0.688494	0.66719	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.05	5.05	0.67566	3.611000	0.53881	6.166000	0.54416	-0.110000	0.15115	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:0.0:1.0	15.092	0.71871	411	0.82069	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	831.98	34	chr10	94357291	.	T	C	831.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.916;DP=770;ExcessHet=0.0000;FS=2.258;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.13;ReadPosRankSum=0.589;SOR=0.446	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1084	20	0	1	0
chr10	94358207	94358207	T	G	exonic	NOC3L	.	nonsynonymous SNV	NOC3L:NM_022451:exon3:c.A226C:p.I76L,	.	.	426	1086	10	0	0	10	0.00458295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.0	B	0.0	B	0.797	N	0.990	N	0	N	2.81	T	-0.939	T	0.012	T	0.106	-0.111	3.455	-0.725	-0.123	-0.725	3.931	0.067	0.0034288468139	0.0003	0.00159744	0.0011	0	0.0003	0	0	0.0005	0.0034	0.0054	0.0008991	139	154602	rs201609399	0.0007	0.0007	0.0006	0.0009	0.0056	0.0007	0.0007	0.0052	0.0051	3.258e-05	0.0003	3.974e-05	0	4.202e-05	0.0038	0.0004	0.0007	0.0056	0.0004	0.0004	0.0003	0.0005	0.0056	0.0003	0.0003	0.0040	0.0034	7.219e-05	0	0.0002	0	0	0	0.0034	0.0003	0.0014	0.0056	0.245	0.17410	T	0.307	0.19908	T	0.0	0.02946	B	0.0	0.01387	B	0.797379	0.09350	N	0.914340	0.999998	0.08975	N	-0.69	0.01958	N	2.81	0.10975	T	-0.38	0.13418	N	0.163	0.17140	-0.9391	0.42759	T	0.012	0.04795	T	10	0.0029897392	0.00049	T	0.003429	0.07725	T	0.067	0.19503	.	.	0.112648838833	0.10856	0.042212627361067956	0.04166	0.0728616512244	0.08163	0.361709415913	0.19635	T	0.00308	0.02484	T	-0.661495	0.00061	T	-0.721187	0.04738	T	0.00556541428405777	0.00061	T	0.448055	0.12582	T	0.09490478	0.22324	0.046338238	0.06438	0.09490478	0.22324	0.046338238	0.06438	-3.393	0.14963	T	.	.	0.063	0.01428	B	.	.	0.925427	0.13005	9.510	0.6068415711703673	0.06523	0.07444	0.13462	N	AEFGBI	0.052748	0.09444	N	-0.935021010084679	0.10030	0.47746	-0.873292965902725	0.12729	0.6564428	0.999907577523313	0.45458	0.732398	0.92422	0	0.662677	0.63036	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	4.31	-0.725	0.10610	-0.710000	0.05127	0.127000	0.14995	0.665000	0.62972	0.070000	0.22072	0.746000	0.26516	0.993000	0.69303	0.0:0.3042:0.1868:0.509	3.931	0.08785	411	0.82069	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	588.98	33	chr10	94358207	.	T	G	588.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.21;DP=738;ExcessHet=0.0000;FS=1.238;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.39;ReadPosRankSum=0.188;SOR=0.976	GT:AD:DP:GQ:PL	0/0:36,0:36:90:0,90,1350	20	0	1	0
chr10	94402759	94402759	-	GGAGGAGGCTGACGAGGA	exonic	TBC1D12	.	nonframeshift insertion	TBC1D12:NM_015188:exon1:c.146_147insGGAGGAGGCTGACGAGGA:p.E63_T64insADEEEE,	.	.	0	224	2	0	0	2	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0027	0.0012	0.0037	0.0050	0	0.0016	0.0137	0.0034	0.0001921	5	26028	rs765857773	0.0017	0.0017	0.0016	0.0018	0.0059	0.0016	0.0016	0.0054	0.0053	0.0005	0.0008	0.0042	0.0006	0.0033	0.0024	0.0013	0.0019	0.0059	0.0016	0.0017	0.0016	0.0017	0.0048	0.0015	0.0014	0.0033	0.0028	0.0006	0	0.0005	0.0052	0.0008	0.0030	0.0034	0.0020	0.0019	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	167.94	31	chr10	94402759	.	C	CGGAGGAGGCTGACGAGGA	167.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.610e-01;DP=502;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.00;ReadPosRankSum=-2.109e+00;SOR=0.905	GT:AD:DP:GQ:PL	0/0:16,0:16:48:0,48,512	20	0	1	0
chr10	94576686	94576686	A	G	exonic	HELLS	.	nonsynonymous SNV	HELLS:NM_001289073:exon9:c.A499G:p.T167A	Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Autosomal recessive	.	452	1056	14	0	0	14	0.00658514	.	.	752336	not_provided|HELLS-related_disorder|Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_4	MedGen:C3661900|.|MONDO:MONDO:0014829,MedGen:C4310798,OMIM:616911,Orphanet:2268	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.23	T	0.003	B	0.005	B	0.055	N	1.000	D	0.965	L	-3.19	D	-0.191	T	0.604	D	0.041	1.603	11.32	2.16	0.708	0.858	7.595	0.168	0.0730283883578	0.0002	.	0.0006	0	0.0004	0	0	0.0006	0.0011	0.0022	0.000511	79	154602	rs200482346	0.0004	0.0004	0.0003	0.0005	0.0038	0.0003	0.0003	0.0028	0.0027	0	0.0002	0.0020	0	0	0.0038	0.0001	0.0005	0.0031	0.0003	0.0003	0.0002	0.0004	0.0037	0.0002	0.0002	0.0024	0.0020	4.812e-05	0	6.539e-05	0.0017	0	0	0.0034	0.0002	0.0005	0.0037	0.201	0.42487	T	0.292	0.25061	T	0.0	0.11197	B	0.004	0.10090	B	0.054652	0.22707	N	0.505809	1	0.81001	D	0.425	0.12573	N	-3.19	0.93170	D	-2.32	0.51478	N	0.087	0.08925	-0.1907	0.77910	T	0.604	0.85928	D	10	0.0170556	0.00362	T	0.073028	0.71685	D	0.168	0.42943	.	.	0.681506863636	0.67879	0.3712274698646387	0.37036	0.636122681632	0.57407	0.325754880905	0.14292	T	0.495773	0.92041	T	-0.390644	0.02664	T	-0.338525	0.40512	T	0.0119638062532283	0.00188	T	0.835416	0.50550	T	0.03720082	0.04723	0.07002862	0.14827	0.040155202	0.05680	0.05558333	0.09775	-5.179	0.38728	T	.	.	0.072	0.27821	B	.;.;.;.;.	.;.;.;.;.	1.849838	0.23498	16.04	0.96561619739867388	0.30261	0.23141	0.21979	N	AEFBCI	0.065498	0.12778	N	-0.551460998804747	0.20438	1.077405	-0.456556647763463	0.23363	1.273679	1.05620275344309E-4	0.05123	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.91	2.16	0.26663	0.907000	0.28154	4.591000	0.43958	0.756000	0.94297	0.040000	0.20979	1.000000	0.68203	0.995000	0.73285	0.7358:0.0:0.2642:0.0	7.595	0.27209	583	0.69484	SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	824.98	33	chr10	94576686	.	A	G	824.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.000e-02;DP=785;ExcessHet=0.0000;FS=0.816;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.42;ReadPosRankSum=1.29;SOR=0.586	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1057	20	0	1	0
chr10	94588298	94588298	G	A	exonic	HELLS	.	nonsynonymous SNV	HELLS:NM_001289070:exon11:c.G1102A:p.V368I	Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.165	B	0.069	B	0.000	D	1.000	D	-0.19	N	-3.13	D	-0.188	T	0.496	T	0.105	1.696	11.63	5.36	2.499	6.383	18.075	0.404	0.0346300087898	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs779583208	7.556e-06	7.527e-06	6.837e-06	8.281e-06	9.939e-06	4.05e-06	2.96e-06	5.33e-06	3.9e-06	0	0	0	0	0	0	9.939e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.35537	T	1.0	0.12037	T	0.153	0.28508	B	0.065	0.27757	B	0.000001	0.62929	D	0.057154	0.999892	0.81001	D	-0.035	0.05024	N	-3.11	0.92829	D	-0.65	0.18877	N	0.113	0.10198	-0.1877	0.77986	T	0.496	0.80927	T	10	0.19124275	0.34802	T	0.03463	0.55804	D	0.404	0.71714	0.402	0.43245	0.625785243138	0.62273	0.10302519881724441	0.10232	0.561149354965	0.52620	0.503827929497	0.39361	T	0.264541	0.78202	T	-0.00547715	0.50898	T	-0.245644	0.50246	T	0.576008558273315	0.35465	D	0.934407	0.75457	D	0.06573088	0.14076	0.104330406	0.25056	0.06573088	0.14075	0.104330406	0.25055	-4.026	0.24192	T	.	.	0.102	0.29032	B	.;.;.;.;.	.;.;.;.;.	2.662464	0.34688	19.70	0.93049146085006873	0.22656	0.94037	0.59923	D	AEFBI	0.498304	0.53246	N	-0.151341156889621	0.35178	2.017283	0.0994421473580197	0.44522	2.732258	0.8733166424531	0.25463	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	5.36	0.76624	6.467000	0.73463	11.859000	0.98275	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	18.075	0.89353	523	0.74147	SNF2-related, N-terminal domain;SNF2-related, N-terminal domain;SNF2-related, N-terminal domain;SNF2-related, N-terminal domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1262.98	34	chr10	94588298	.	G	A	1262.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.120e-01;DP=794;ExcessHet=0.0000;FS=3.637;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=0.815;SOR=0.777	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1307	20	0	1	0
chr10	95037276	95037276	C	T	exonic	CYP2C8	.	nonsynonymous SNV	CYP2C8:NM_001198854:exon8:c.G1019A:p.R340H	Rhabdomyolysis, cerivastatin-induced (3)	.	411	1109	2	0	0	2	0.000900901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.994	D	0.675	P	0.000	U	1.000	D	3.23	M	-0.49	T	-0.193	T	0.429	T	0.537	2.983	15.95	1.97	0.946	2.963	6.163	0.506	0.0205863676681	7.7e-05	.	1.687e-05	0	0	0	0	3.07e-05	0	0	1.29e-05	2	154602	rs138495387	7.254e-05	7.251e-05	7.081e-05	7.429e-05	0.0004	6.116e-05	5.702e-05	6.873e-05	6.37e-05	2.988e-05	0	0	2.52e-05	0	0.0004	8.275e-05	0.0001	2.32e-05	5.259e-05	5.254e-05	8.997e-05	1.346e-05	0.0001	2.558e-05	1.831e-05	5.842e-05	4.239e-05	0	0	0	0	0	0	0	0.0001	0	0	0.013	0.53900	D	0.015	0.61642	D	0.994	0.66517	D	0.675	0.53279	P	0.000001	0.62929	U	0.000000	0.682358	0.33246	D	3.76	0.95097	H	-0.49	0.70365	T	-4.09	0.74900	D	0.417	0.45709	-0.1928	0.77857	T	0.429	0.77160	T	10	0.6035336	0.67046	D	0.020586	0.43215	T	0.506	0.78724	.	.	0.801223087649	0.79936	0.21162112535075858	0.21078	0.0808308102781	0.09095	0.328026235104	0.14636	T	0.305722	0.67796	T	-0.0864423	0.38660	T	-0.176041	0.56888	T	0.97418200969696	0.70403	D	0.705629	0.31596	T	0.49424413	0.66755	0.3376259	0.59551	0.49424413	0.66756	0.3376259	0.59550	-9.195	0.68943	D	.	.	0.381	0.58475	A	.;.;.;.	.;.;.;.	3.363430	0.46445	22.3	0.99892627087801411	0.96666	0.45044	0.27451	N	AEFI	0.628884	0.61080	D	0.181044580007076	0.50290	3.220379	-0.0026737251584911	0.39596	2.350063	6.55972864254984E-5	0.04366	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.9	1.97	0.25278	2.166000	0.42032	.	.	0.546000	0.25710	0.023000	0.19925	0.000000	0.08366	0.111000	0.18785	0.19:0.7028:0.0:0.1072	6.163	0.19592	777	0.48198	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	482.98	35	chr10	95037276	.	C	T	482.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.94;ReadPosRankSum=-1.347e+00;SOR=0.798	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1089	20	0	1	0
chr10	95194520	95194520	G	A	exonic	ACSM6	.	nonsynonymous SNV	ACSM6:NM_207321:exon2:c.G35A:p.R12Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.002	B	0.0	B	.	.	1.000	N	0.55	N	2.09	T	-0.966	T	0.026	T	0.151	-0.401	2.124	-0.846	-0.448	-2.097	5.595	0.002	0.00183871790671	.	0.000399361	4.601e-05	0	0	0	0	0.0001	0	0	1.94e-05	3	154602	rs530002609	2.715e-05	2.599e-05	2.256e-05	3.187e-05	0.0005	2.019e-05	1.768e-05	0.0001	7.633e-05	0	2.801e-05	0	0	0	0.0005	2.781e-05	5.169e-05	1.262e-05	5.254e-05	5.25e-05	6.426e-05	4.029e-05	0.0002	2.556e-05	1.829e-05	1.972e-05	1.124e-05	2.407e-05	0	0	0	0.0002	0	0	5.88e-05	0.0005	0.0002	0.384	0.11050	T	0.405	0.14771	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.09	0.20122	T	0.12	0.05604	N	0.082	0.05799	-0.9660	0.38013	T	0.026	0.11087	T	9	0.029834747	0.01110	T	0.001839	0.03193	T	0.002	0.00045	0.303	0.27164	0.0297737177859	0.01360	0.43194273519129744	0.43111	0.0235206642377	0.02386	.	.	.	0.013457	0.11635	T	-0.412305	0.01919	T	-0.707479	0.05426	T	0.0162841240760955	0.00399	T	0.459554	0.13284	T	0.023389552	0.01074	0.04017398	0.04283	0.023389552	0.01074	0.04017398	0.04282	-5.52	0.42054	T	.	.	0.096	0.15430	B	.;.	.;.	-0.317372	0.02543	0.306	0.61235939194240641	0.06659	0.00062	0.00453	N	AEFBI	0.022674	0.01163	N	-1.72066362010337	0.00771	0.03330364	-1.78730648131673	0.00801	0.03573457	0.00244670735675382	0.09436	0.553676	0.25195	0	0.588015	0.36545	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	1.6	-0.846	0.10190	-1.349000	0.02734	.	.	-1.915000	0.00511	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.5019:0.0:0.4981:0.0	5.595	0.16605	787	0.46738	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	603.98	35	chr10	95194520	.	G	A	603.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.576;DP=750;ExcessHet=0.0000;FS=2.214;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.29;ReadPosRankSum=-3.420e-01;SOR=0.391	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1088	20	0	1	0
chr10	95271745	95271745	T	C	exonic	PDLIM1	.	nonsynonymous SNV	PDLIM1:NM_020992:exon2:c.A136G:p.I46V,	.	.	439	1081	2	0	0	2	0.000924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.009	B	0.012	B	0.000	N	0.999	D	-1.07	N	1.81	T	-1.021	T	0.019	T	0.073	-0.247	2.812	2.32	0.143	2.493	8.580	0.022	0.00275970819233	.	.	8.237e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs771556649	2.739e-06	2.736e-06	1.363e-06	4.13e-06	0.0002	6.4e-07	4.3e-07	9.3e-06	4.58e-06	0	0	0	0	0	0.0002	0	0	3.5e-05	6.568e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.208	0.19782	T	1.0	0.01155	T	0.009	0.15093	B	0.012	0.16012	B	0.000432	0.44522	N	0.280881	0.999199	0.46300	D	-0.69	0.01958	N	1.81	0.25182	T	0.34	0.03824	N	0.113	0.10056	-1.0210	0.23389	T	0.019	0.07753	T	10	0.14999548	0.28377	T	0.00276	0.05723	T	0.022	0.04323	0.457	0.52265	0.251116650651	0.24721	0.19771966542004837	0.19688	0.167327546539	0.18878	0.325504988432	0.14254	T	0.063804	0.32271	T	-0.342244	0.05233	T	-0.628756	0.10508	T	0.0541139075956051	0.06208	T	0.644935	0.25655	T	0.058951262	0.11921	0.071535565	0.15330	0.058951262	0.11920	0.071535565	0.15329	-3.094	0.11227	T	.	.	0.068	0.02639	B	.	.	1.009849	0.13890	10.44	0.44012170949604007	0.03354	0.80666	0.40245	D	AEFDBI	0.285224	0.39790	N	-0.665148042242268	0.17020	0.872305	-0.432061161433665	0.24062	1.315583	0.999902424449595	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	6.07	2.32	0.27895	2.802000	0.47612	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.935000	0.47363	0.0:0.2387:0.0:0.7613	8.580	0.32781	794	0.45591	PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1003.98	35	chr10	95271745	.	T	C	1003.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=788;ExcessHet=0.0000;FS=0.834;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=2.87;SOR=0.836	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1313	20	0	1	0
chr10	95711957	95711957	A	G	exonic	ENTPD1	.	startloss	ENTPD1:NM_001098175:exon1:c.A1G:p.M1?,	Spastic paraplegia 64, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.011	B	0.043	B	.	.	1.000	N	.	.	2.99	T	-0.984	T	0.022	T	0.239	0.003	4.029	0.458	0.454	0.268	.	0.050	0.0258532624206	.	.	.	.	.	.	.	.	.	.	.	.	.	rs919503156	1.027e-05	1.026e-05	1.09e-05	9.633e-06	2.99e-05	6.17e-06	4.89e-06	5.75e-06	4.55e-06	2.99e-05	0	0	2.519e-05	0	0	1.079e-05	1.658e-05	0	3.349e-05	0.0008	5.229e-05	1.374e-05	7.396e-05	1.279e-05	8.11e-06	1.961e-05	1.043e-05	7.396e-05	0	0	0	0	0	0	2.982e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.011	0.15914	B	0.043	0.24256	B	.	.	.	.	1	0.81001	D	.	.	.	2.99	0.09262	T	-0.01	0.07155	N	0.636	0.64903	-0.9843	0.33998	T	0.022	0.09147	T	7	0.9436738	0.93692	D	0.025853	0.48797	D	0.050	0.13987	0.995	0.99946	0.043077524339	0.03247	.	.	.	.	.	.	.	.	.	.	-0.356997	0.04303	T	-0.581449	0.14417	T	0.0875836804388688	0.10928	T	0.9	0.65058	D	.	.	.	.	.	.	.	.	-5.549	0.42324	T	.	.	.	.	.	.	.	1.019411	0.13987	10.55	0.53643955591518877	0.04980	0.00569	0.02581	N	AEFGBI	0.012711	0.00146	N	-0.881114104686083	0.11293	0.5441785	-1.01454963048692	0.09465	0.471041	0.00272844770582347	0.09662	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	0.458	0.458	0.15882	0.267000	0.18318	.	.	0.300000	0.18932	0.266000	0.25007	0.945000	0.28875	0.278000	0.23967	.	.	.	788	0.46569	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.1389	323.39	32	chr10	95711957	.	A	G	323.39	.	AC=5;AF=0.139;AN=36;BaseQRankSum=1.70;DP=633;ExcessHet=1.1607;FS=22.468;InbreedingCoeff=-0.1784;MLEAC=5;MLEAF=0.139;MQ=57.80;MQRankSum=-5.093e+00;QD=2.34;ReadPosRankSum=0.645;SOR=3.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:30,0:30:90:.:.:0,90,826	13	0	5	3
chr10	95711959	95711959	G	C	exonic	ENTPD1	.	startloss	ENTPD1:NM_001098175:exon1:c.G3C:p.M1?,	Spastic paraplegia 64, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.011	B	0.043	B	.	.	1.000	N	.	.	2.97	T	-0.985	T	0.022	T	0.301	0.321	5.743	0.458	0.538	0.278	.	0.055	0.0243099664364	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433519358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0008	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.011	0.15914	B	0.043	0.24256	B	.	.	.	.	1	0.81001	D	.	.	.	2.97	0.09450	T	0.0	0.07008	N	0.693	0.69825	-0.9851	0.33808	T	0.022	0.09193	T	7	0.94950134	0.94283	D	0.02431	0.47297	T	0.055	0.15663	0.993	0.99924	0.0675242888579	0.06100	.	.	.	.	.	.	.	.	.	.	-0.217906	0.18280	T	-0.550783	0.17250	T	0.141772925853729	0.16427	T	0.9	0.65058	D	.	.	.	.	.	.	.	.	-5.73	0.43959	T	.	.	.	.	.	.	.	0.932069	0.13072	9.577	0.96361290402127009	0.29550	0.00779	0.03201	N	AEFGBI	0.011946	0.00117	N	-0.858725517021361	0.11836	0.5734107	-0.993793893458475	0.09924	0.4966357	0.00285753038931223	0.09753	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	0.458	0.458	0.15882	0.280000	0.18550	.	.	0.272000	0.18543	0.255000	0.24900	0.876000	0.27648	0.265000	0.23644	.	.	.	788	0.46569	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.1389	404.05	34	chr10	95711959	.	G	C	404.05	.	AC=5;AF=0.139;AN=36;BaseQRankSum=0.673;DP=644;ExcessHet=1.1607;FS=19.869;InbreedingCoeff=-0.1851;MLEAC=6;MLEAF=0.167;MQ=57.78;MQRankSum=-5.316e+00;QD=2.87;ReadPosRankSum=0.611;SOR=2.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:28,0:28:84:.:.:0,84,799	13	0	5	3
chr10	95711966	95711966	-	C	exonic	ENTPD1	.	frameshift insertion	ENTPD1:NM_001098175:exon1:c.11dupC:p.K5Qfs*11,	Spastic paraplegia 64, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1353731498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.585e-06	0.0008	0	1.349e-05	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	370.88	34	chr10	95711966	.	A	AC	370.88	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.21;DP=666;ExcessHet=0.6776;FS=17.575;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=58.06;MQRankSum=-5.316e+00;QD=3.07;ReadPosRankSum=0.238;SOR=2.880	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,929	17	0	4	0
chr10	95711973	95711973	A	-	exonic	ENTPD1	.	frameshift deletion	ENTPD1:NM_001098175:exon1:c.17delA:p.D6Afs*2,	Spastic paraplegia 64, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs146056164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.601e-06	0.0018	0	1.351e-05	2.42e-05	0	0	.	.	2.42e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	686.4	34	chr10	95711972	.	GA	G	686.4	.	AC=5;AF=0.119;AN=42;BaseQRankSum=0.485;DP=713;ExcessHet=1.1607;FS=0.739;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=57.11;MQRankSum=-5.587e+00;QD=4.09;ReadPosRankSum=0.00;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,929	16	0	5	0
chr10	95711979	95711979	C	G	exonic	ENTPD1	.	nonsynonymous SNV	ENTPD1:NM_001098175:exon1:c.C23G:p.T8R,	Spastic paraplegia 64, autosomal recessive, Autosomal recessive	.	423	1090	9	0	0	9	0.00411147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.087	B	0.018	B	.	.	1.000	N	.	.	2.85	T	-0.985	T	0.019	T	0.082	-0.732	0.871	-0.916	-0.340	0.235	.	0.018	0.00180847012655	.	.	.	.	.	.	.	.	.	.	.	.	.	rs776554101	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0001	0.0025	0.0001	0.0001	0.0001	6.73e-05	5.499e-05	6.466e-05	4.42e-05	0.0001	0	0	0	0	0.0002	0	0.0001	0.0005	0	0.116	0.28395	T	0.189	0.28575	T	0.087	0.24971	B	0.018	0.18489	B	.	.	.	.	1	0.08975	N	.	.	.	2.85	0.10578	T	-0.03	0.07444	N	0.159	0.16586	-0.9848	0.33879	T	0.019	0.07800	T	7	0.056895226	0.06450	T	0.001808	0.03115	T	0.018	0.03083	0.201	0.11522	0.0675242888579	0.06100	.	.	.	.	.	.	.	.	.	.	-0.364491	0.03883	T	-0.761343	0.03064	T	0.0465263334017623	0.04879	T	0.39886	0.10126	T	.	.	.	.	.	.	.	.	-3.096	0.11250	T	.	.	0.083	0.09191	B	.	.	0.323582	0.06979	3.532	0.70516184951874417	0.09321	0.00278	0.01504	N	AEFGBI	0.034974	0.04426	N	-1.1441077205401	0.05877	0.2691008	-1.29943115007538	0.04439	0.2093725	0.00278882824345698	0.09705	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	0.458	-0.916	0.09956	0.236000	0.17745	.	.	0.245000	0.18292	0.167000	0.23894	0.053000	0.21875	0.081000	0.17303	.	.	.	788	0.46569	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.1389	722.94	38	chr10	95711979	.	C	G	722.94	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-8.280e-01;DP=756;ExcessHet=1.1607;FS=1.533;InbreedingCoeff=-0.1834;MLEAC=6;MLEAF=0.167;MQ=57.11;MQRankSum=-5.592e+00;QD=4.15;ReadPosRankSum=-2.350e-01;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,929	13	0	5	3
chr10	95922076	95922076	G	T	exonic	CC2D2B	.	nonsynonymous SNV	CC2D2B:NM_001349008:exon3:c.G97T:p.D33Y	.	.	.	.	.	.	.	.	.	0.9999	0.976	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.923	D	0.749	N	0.979	N	1.79	L	.	.	-0.935	T	0.204	T	0.385	2.949	15.83	3.35	2.150	2.310	10.501	0.137	.	.	.	4.675e-05	0	0	0	0	0.0001	0	0	1.29e-05	2	154602	rs751636654	2.541e-05	2.601e-05	2.667e-05	2.413e-05	2.925e-05	1.829e-05	1.614e-05	2.074e-05	1.8e-05	0	0	0	0	2.041e-05	0	2.925e-05	5.378e-05	0	6.577e-06	6.569e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.006	0.61437	D	0.003	0.76473	D	.	.	.	.	.	.	0.749431	0.09712	N	0.849158	0.978627	0.25236	N	.	.	.	.	.	.	-5.71	0.87457	D	0.233	0.26233	-0.9352	0.43364	T	0.204	0.56155	T	9	0.19189572	0.34895	T	0.001619	0.02625	T	0.137	0.36984	0.253	0.19223	0.402326594622	0.39847	.	.	.	.	.	.	.	.	.	.	-0.171004	0.25083	T	-0.28711	0.46072	T	0.653179824352264	0.38599	D	0.535046	0.18749	T	.	.	.	.	.	.	.	.	-2.612	0.06595	T	.	.	0.135	0.33039	B	.;.;.	.;.;.	5.304033	0.89044	29.8	0.99545488689171091	0.70773	0.81712	0.41061	D	AEFI	0.311117	0.41694	N	0.463115120137917	0.64952	4.761668	0.388817219766666	0.60875	4.280148	6.55235120969845E-4	0.07551	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.35	3.35	0.37468	2.331000	0.43552	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	10.501	0.43994	731	0.54177	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1190.98	36	chr10	95922076	.	G	T	1190.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.197;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=1.16;SOR=0.636	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1103	20	0	1	0
chr10	95938628	95938628	T	C	exonic	CC2D2B	.	nonsynonymous SNV	CC2D2B:NM_001349008:exon8:c.T595C:p.F199L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.004	N	1.000	D	.	.	.	.	-1.041	T	0.063	T	0.236	1.128	9.600	3.53	0.479	0.447	5.534	0.037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.77e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003698	0.34611	N	0.280867	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	-1.0413	0.16921	T	0.063	0.26244	T	6	0.15913004	0.29907	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488951	0.15001	T	0.07450228	0.16722	0.09835596	0.23446	0.07450228	0.16722	0.09835596	0.23445	.	.	.	.	.	0.805	0.77499	P	.;.	.;.	1.050048	0.14311	10.89	0.86527769880785077	0.16596	0.54081	0.29528	D	AEFBI	.	.	.	-0.12361232976119	0.36366	2.101062	-0.0461718473644718	0.37656	2.207774	7.6425886354954E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	0.252671	0.32781	5.86	3.53	0.39533	0.459000	0.21619	.	.	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1523:0.0829:0.0:0.7648	5.534	0.16289	716	0.55970	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	160.98	47	chr10	95938628	.	T	C	160.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.750e+00;DP=1296;ExcessHet=0.0000;FS=139.371;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.24;ReadPosRankSum=1.51;SOR=8.468	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr10	95968845	95968845	T	G	exonic	CC2D2B	.	nonsynonymous SNV	CC2D2B:NM_001349008:exon15:c.T1588G:p.F530V,	.	.	655	864	3	0	0	3	0.0017331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0065	0.0027	0	0	0	0.0101	0	0	0.0008603	133	154602	rs181236559	0.0062	0.0047	0.0062	0.0062	0.0067	0.0061	0.0061	0.0065	0.0065	0.0007	0.0013	0.0126	0	0.0026	0.0010	0.0067	0.0059	0.0024	0.0044	0.0044	0.0049	0.0039	0.0070	0.0041	0.0040	0.0065	0.0063	0.0011	0.0330	0.0024	0.0115	0	0.0025	0	0.0070	0.0038	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010572404	0.00235	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0912962	0.37863	T	0.102056	0.77044	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.466838	0.69576	25.4	0.88001636755590185	0.17642	0.94966	0.62953	D	AEFBI	0.611778	0.60010	D	.	.	.	.	.	.	0.0144758488422357	0.12601	0.078448	0.01964	0	0.097471	0.02872	0	0.063197	0.01477	0	0.058706	0.01089	0	.	.	5.39	5.39	0.77615	4.852000	0.62602	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	12.941	0.57739	714	0.56256	CC2D2A, N-terminal, C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1558.98	34	chr10	95968845	.	T	G	1558.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.560e-01;DP=854;ExcessHet=0.0000;FS=1.288;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.39;ReadPosRankSum=-1.277e+00;SOR=0.549	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1298	20	0	1	0
chr10	95992634	95992634	T	C	exonic	CC2D2B	.	nonsynonymous SNV	CC2D2B:NM_001349008:exon22:c.T2579C:p.I860T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1268421578	1.109e-05	9.577e-06	8.754e-06	1.37e-05	1.304e-05	5.91e-06	4.67e-06	6.95e-06	5.49e-06	0	0	0	0	0	0	1.304e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38910407	0.54760	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.949005	0.80370	D	0.17826357	0.38836	0.4660001	0.69013	0.17826357	0.38836	0.4660001	0.69014	.	.	.	.	.	0.507	0.64884	A	.;.	.;.	3.602360	0.50884	23.0	0.86695113671423352	0.16710	0.90602	0.51914	D	AEFBI	.	.	.	.	.	.	.	.	.	0.600986303551462	0.21725	0.078448	0.01964	0	0.097471	0.02872	0	0.060301	0.00762	0	0.058706	0.01089	0	0.919074	0.58275	5.79	5.79	0.91751	4.036000	0.57015	.	.	0.665000	0.62972	0.984000	0.35821	0.999000	0.35428	0.906000	0.44173	0.0:0.0:0.0:1.0	13.653	0.61799	502	0.75873	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3763.98	35	chr10	95992634	.	T	C	3763.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.268e+00;DP=952;ExcessHet=0.0000;FS=4.270;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.70;ReadPosRankSum=0.745;SOR=0.485	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1216	20	0	1	0
chr10	96158745	96158745	G	T	exonic	ZNF518A	.	nonsynonymous SNV	ZNF518A:NM_001278525:exon6:c.G2423T:p.G808V	.	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.00179712	0.0027	0.0001	0.0006	0	0.0065	0.0033	0.0045	0.0026	0.0024967	386	154602	rs138441796	0.0024	0.0024	0.0023	0.0025	0.0040	0.0024	0.0023	0.0027	0.0023	0.0002	0.0009	0.0043	2.52e-05	0.0057	0.0040	0.0024	0.0023	0.0024	0.0023	0.0023	0.0025	0.0021	0.0037	0.0021	0.0020	0.0034	0.0032	0.0002	0	0.0009	0.0040	0	0.0041	0	0.0037	0.0019	0.0023	.	.	.	0.538	0.09829	T	0.309	0.32767	B	0.054	0.25828	B	.	.	.	.	.	.	.	1.01	0.25309	L	.	.	.	.	.	.	0.11	0.14054	.	.	.	.	.	.	.	0.0036990643	0.00068	T	.	.	.	.	.	.	.	0.461058313273	0.45730	0.06385146694429807	0.06324	.	.	0.199216067791	0.00434	T	0.006909	0.06335	T	-0.391859	0.02616	T	-0.33179	0.41270	T	.	.	.	0.29517	0.05454	T	0.03695983	0.04647	0.074916065	0.16438	0.03695983	0.04647	0.074916065	0.16438	-2.602	0.06519	T	.	.	0.091	0.13127	B	.;.;.	.;.;.	-0.115361	0.03552	0.682	0.59347568091884517	0.06203	0.09979	0.15608	N	AEFBI	.	.	.	.	.	.	.	.	.	1.31057826950866E-4	0.05386	0.163922	0.03765	0	0.156173	0.03658	0	0.17184	0.04098	0	0.24341	0.04801	0	0.0489367	0.08445	5.65	-1.69	0.07747	-0.058000	0.11707	0.210000	0.15951	-0.116000	0.14526	0.000000	0.06391	0.001000	0.17328	0.145000	0.20128	0.5088:0.1252:0.366:0.0	6.598	0.21877	514	0.74853	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2181.98	136	chr10	96158745	.	G	T	2181.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.200e-02;DP=945;ExcessHet=0.0000;FS=6.502;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.04;ReadPosRankSum=0.033;SOR=0.781	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1068	20	0	1	0
chr10	96159323	96159323	C	T	exonic	ZNF518A	.	nonsynonymous SNV	ZNF518A:NM_001278525:exon6:c.C3001T:p.R1001C	.	.	430	1088	4	0	0	4	0.00183486	.	.	3420774	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.342e-05	0	0.0003	0	0	1.514e-05	0	0	2.59e-05	4	154602	rs782808939	2.532e-05	2.531e-05	2.179e-05	2.889e-05	0.0004	1.868e-05	1.631e-05	0.0002	0.0002	0	0.0004	0	0	1.873e-05	0	1.709e-05	1.657e-05	0	4.602e-05	4.597e-05	3.856e-05	5.384e-05	0.0002	2.11e-05	1.528e-05	5.292e-05	2.837e-05	0	0	0.0002	0	0	0	0	5.883e-05	0	0	.	.	.	0.197	0.27855	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-2.08	0.00163	N	.	.	.	.	.	.	0.15	0.15328	.	.	.	.	.	.	.	0.037279814	0.02073	T	.	.	.	.	.	.	.	0.357724736475	0.35387	0.15230602995315673	0.15152	.	.	0.198947846889	0.00427	T	0.003663	0.03070	T	-0.377468	0.03232	T	-0.463827	0.26184	T	.	.	.	0.519848	0.16911	T	0.10135891	0.23942	0.11478544	0.27709	0.10135891	0.23942	0.11478544	0.27708	-2.661	0.06981	T	.	.	0.066	0.02313	B	.;.;.	.;.;.	1.474387	0.18991	14.03	0.76796428678152584	0.11613	0.07589	0.13600	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00152091153806004	0.08604	0.295142	0.05270	0	0.30413	0.05452	0	0.292756	0.05521	0	0.221052	0.04502	0	0.0565591	0.13394	6.08	3.76	0.42368	0.877000	0.27756	2.302000	0.32024	-0.826000	0.02916	0.971000	0.34370	1.000000	0.68203	0.038000	0.14061	0.0:0.15:0.0:0.85	9.566	0.38567	513	0.74941	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1475.98	118	chr10	96159323	.	C	T	1475.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=948;ExcessHet=0.0000;FS=0.693;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=-2.970e-01;SOR=0.767	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1068	20	0	1	0
chr10	96223879	96223879	C	A	exonic	BLNK	.	nonsynonymous SNV	BLNK:NM_001114094:exon6:c.G472T:p.A158S	Agammaglobulinemia 4, Autosomal recessive	.	6	1478	36	2	0	40	0.0133511	.	.	247049	not_specified|Agammaglobulinemia_4,_autosomal_recessive|BLNK-related_disorder|not_provided	MedGen:CN169374|MONDO:MONDO:0013289,MedGen:C3150752,OMIM:613502|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.65	T	0.001	B	0.007	B	0.830	N	0.582	N	-1.23	N	.	.	-0.936	T	0.017	T	0.019	-0.153	3.251	-6.93	-0.772	-0.562	11.9	0.032	.	0.0055	0.00299521	0.0055	0.0009	0.0053	0	0.0088	0.0072	0.0110	0.0030	0.005388	833	154602	rs148612299	0.0052	0.0052	0.0050	0.0053	0.0167	0.0051	0.0050	0.0139	0.0129	0.0014	0.0077	0.0353	0	0.0054	0.0167	0.0047	0.0063	0.0033	0.0049	0.0049	0.0047	0.0052	0.0063	0.0046	0.0045	0.0053	0.0049	0.0010	0.0242	0.0063	0.0381	0	0.0083	0.0442	0.0049	0.0081	0.0010	0.552	0.07670	T	0.558	0.10714	T	0.0	0.07471	B	0.003	0.12992	B	0.830031	0.06936	N	1.065940	0.999994	0.08975	N	-0.595	0.02246	N	.	.	.	-0.71	0.20145	N	0.028	0.00618	-0.9360	0.43241	T	0.017	0.06998	T	9	0.002996534	0.00049	T	.	.	.	0.032	0.07718	.	.	0.209943299407	0.20609	0.1276476982693638	0.12690	0.292084130396	0.31614	0.303299188614	0.10895	T	0.296826	0.66944	T	-0.696312	0.00038	T	-0.769115	0.02797	T	0.00258914784501353	0.00027	T	0.531447	0.20104	T	0.038961124	0.05288	0.0503065	0.07868	0.0410187	0.05964	0.04487523	0.05910	-2.947	0.09999	T	.	.	0.065	0.02173	B	.;.;.	.;.;.	-0.616050	0.01528	0.098	0.4530442580867925	0.03546	0.00649	0.02827	N	AEFDBI	0.036936	0.04999	N	-1.70080143896076	0.00839	0.03628185	-1.68879537062121	0.01188	0.0534534	0.936619302429418	0.27262	0.67177	0.52595	0	0.702456	0.74545	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	5.49	-6.93	0.01480	-0.429000	0.07051	-0.222000	0.10754	-0.809000	0.03084	0.000000	0.06391	0.000000	0.08366	0.050000	0.15192	0.1491:0.6322:0.2187:0.0	11.9	0.51959	476	0.77720	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1660.98	39	chr10	96223879	.	C	A	1660.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.814e+00;DP=880;ExcessHet=0.0000;FS=0.613;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=-2.100e-01;SOR=0.779	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1247	20	0	1	0
chr10	96332363	96332363	T	C	exonic	DNTT	.	nonsynonymous SNV	DNTT:NM_001017520:exon9:c.T1126C:p.Y376H	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.998	D	0.000	D	1.000	D	2.215	M	0.96	T	-0.600	T	0.253	T	0.663	4.202	21.8	5.81	2.220	7.241	14.113	0.438	.	.	0.00199681	0.0016	9.748e-05	0	0	0	0	0.0011	0.0116	0.0013325	206	154602	rs544251536	0.0007	0.0007	0.0004	0.0010	0.0115	0.0007	0.0007	0.0109	0.0107	2.991e-05	0	0	5.039e-05	0	0.0003	6.296e-06	0.0009	0.0115	0.0004	0.0004	0.0002	0.0007	0.0128	0.0003	0.0003	0.0103	0.0093	7.214e-05	0	0	0	0	0	0	0	0	0.0128	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999839	0.49637	D	2.85	0.82803	M	0.96	0.42888	T	-4.09	0.74821	D	0.869	0.86618	-0.5998	0.64826	T	0.253	0.62281	T	10	0.024309874	0.00664	T	.	.	.	0.438	0.74235	0.642	0.77903	0.865398498921	0.86409	0.653960137757717	0.65332	0.56675199457	0.52955	0.616972565651	0.55301	T	0.562433	0.85375	D	-0.255958	0.13378	T	-0.130054	0.60967	T	0.164327701178445	0.18186	T	0.883612	0.60617	D	0.78002733	0.82655	0.85218716	0.91651	0.78002733	0.82657	0.85218716	0.91651	-5.376	0.43335	T	.	.	0.338	0.56429	B	.;.	.;.	3.923762	0.57305	23.8	0.99853611339863402	0.93279	0.97894	0.77931	D	AEBI	0.859143	0.77677	D	0.791354794330658	0.85560	8.612952	0.775443068687088	0.88038	9.435159	0.999999918419546	0.74766	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.81	5.81	0.92413	7.226000	0.77541	7.887000	0.72831	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.0:0.0:0.0:1.0	14.113	0.64661	451	0.79296	DNA-directed DNA polymerase X|DNA-directed DNA polymerase X;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1372.98	34	chr10	96332363	.	T	C	1372.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.28;DP=796;ExcessHet=0.0000;FS=1.930;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.76;ReadPosRankSum=1.26;SOR=0.960	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1346	20	0	1	0
chr10	96346077	96346077	C	T	exonic	OPALIN	.	nonsynonymous SNV	OPALIN:NM_001040102:exon4:c.G221A:p.G74E	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.004	N	1.000	N	0.695	N	.	.	-1.083	T	0.111	T	0.714	2.575	14.57	3.21	2.293	0.284	7.062	0.170	0.00285067268833	.	.	2.471e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs768526962	6.157e-06	6.156e-06	2.723e-06	9.626e-06	0.0002	2.9e-06	2.1e-06	1.583e-05	9.3e-06	0	0	0	0	0	0.0002	2.698e-06	1.656e-05	4.637e-05	6.572e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.379	0.92824	T	1.0	0.90584	D	1.0	0.97372	D	0.004289	0.33902	N	0.135493	0.999588	0.20930	N	2.015	0.55033	M	.	.	.	-7.97	0.96368	D	0.207	0.22998	-1.0828	0.06814	T	0.111	0.39794	T	9	0.17220396	0.31981	T	0.002851	0.05986	T	0.170	0.43303	0.274	0.22528	0.315314060047	0.31143	0.1555191978824115	0.15472	0.815431667459	0.66915	0.419260084629	0.27735	T	0.111861	0.46315	T	-0.0459251	0.45063	T	-0.0670761	0.65835	T	0.983429908752441	0.75096	D	0.889911	0.62289	D	0.4570392	0.64486	0.40112537	0.64630	0.4570392	0.64487	0.40112537	0.64630	-2.436	0.05870	T	.	.	0.166	0.46711	B	.;.;.;.;.;.	.;.;.;.;.;.	2.139689	0.27245	17.40	0.99654588619513318	0.77505	0.05740	0.11667	N	AEFBCI	0.047725	0.08067	N	0.059747502598312	0.44592	2.730434	-0.030739523027959	0.38334	2.25699	0.961845630581036	0.28581	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.530356	0.10902	0	.	.	4.12	3.21	0.35933	0.321000	0.19306	0.721000	0.21012	0.599000	0.40250	0.004000	0.16614	0.002000	0.18203	0.740000	0.35438	0.0:0.8796:0.0:0.1204	7.062	0.24312	451	0.79296	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1413.98	36	chr10	96346077	.	C	T	1413.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.61;DP=864;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.44;ReadPosRankSum=1.29;SOR=0.763	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1188	20	0	1	0
chr10	96384753	96384753	G	T	exonic	TLL2	.	nonsynonymous SNV	TLL2:NM_012465:exon16:c.C2028A:p.D676E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	3.25	M	1.55	T	-0.563	T	0.222	T	0.868	4.344	22.9	2.72	1.286	3.875	10.549	0.460	0.0351985101352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000214	0.47681	D	0.000000	0.999992	0.58761	D	4.11	0.97368	H	1.55	0.29866	T	-3.76	0.71276	D	0.968	0.97856	-0.5626	0.66305	T	0.222	0.58601	T	10	0.9461714	0.93943	D	0.035199	0.56185	D	0.460	0.75755	0.817	0.93127	0.555198480781	0.55179	0.7754755668385007	0.77497	0.642858188304	0.57842	0.778807163239	0.78748	T	0.283019	0.65577	T	0.207517	0.74596	D	0.0603077	0.74265	D	0.999553382396698	0.97890	D	0.979102	0.92705	D	0.7044136	0.78299	0.70315677	0.82505	0.7044136	0.78300	0.70315677	0.82506	-12.896	0.88929	D	.	.	0.990	0.93477	P	.	.	4.454617	0.69278	25.4	0.99753540929543649	0.84460	0.95138	0.63577	D	AEFDBI	0.680363	0.64408	D	0.627343473674568	0.74908	6.213685	0.506023771626105	0.68395	5.21413	0.038220138306261	0.14336	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.59	2.72	0.31179	3.024000	0.49358	4.431000	0.43351	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.411000	0.27028	0.1685:0.0:0.8315:0.0	10.549	0.44263	526	0.73951	CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1422.98	44	chr10	96384753	.	G	T	1422.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.652;DP=899;ExcessHet=0.0000;FS=1.824;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.67;ReadPosRankSum=1.70;SOR=0.460	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,102,1530	20	0	1	0
chr10	96955528	96955528	G	A	exonic	LCOR	.	nonsynonymous SNV	LCOR:NM_001170765:exon8:c.G908A:p.S303N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.791	P	0.263	B	0.000	D	0.600	N	0.345	N	.	.	-1.018	T	0.075	T	0.183	1.746	11.80	5.54	2.768	5.590	19.847	0.150	0.00219062077081	.	.	8.264e-06	0	0	0	0	0	0	6.06e-05	6.5e-06	1	154602	rs769709239	2.052e-06	2.052e-06	1.361e-06	2.75e-06	3.478e-05	5.5e-07	1.5e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.19710	T	0.273	0.22154	T	0.791	0.44643	P	0.135	0.39594	B	0.000138	0.49741	D	0.259097	0.600104	0.30948	N	1.245	0.31408	L	.	.	.	-0.84	0.22944	N	0.124	0.36148	-1.0181	0.24334	T	0.075	0.30272	T	9	0.14169323	0.26921	T	0.002191	0.04124	T	0.150	0.39571	0.108	0.01928	0.373217324921	0.36936	.	.	0.529786557781	0.50535	.	.	.	0.024099	0.18273	T	-0.212198	0.19070	T	-0.44573	0.28169	T	0.364406026652992	0.27581	T	0.808019	0.45805	T	0.24663335	0.47634	0.1833644	0.41321	0.24663335	0.47634	0.1833644	0.41320	-4.446	0.31188	T	.	.	0.075	0.05360	B	.;.;.;.	.;.;.;.	3.311678	0.45507	22.1	0.98588046660358908	0.43336	0.97100	0.72689	D	AEFBI	0.563465	0.57064	D	0.262272454986519	0.54250	3.590919	0.412712365517487	0.62356	4.449644	0.999997647125982	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.446627	0.06593	0	0.635551	0.53088	0	.	.	5.54	5.54	0.82907	2.806000	0.47644	10.037000	0.83178	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.847	0.96710	711	0.56613	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1861.98	33	chr10	96955528	.	G	A	1861.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.493;DP=860;ExcessHet=0.0000;FS=10.057;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=0.022;SOR=1.095	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr10	96982331	96982331	T	C	exonic	LCOR	.	nonsynonymous SNV	LCOR:NM_001346516:exon8:c.T1871C:p.L624P,	.	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.02	B	0.016	B	0.055	N	1.000	N	0.345	N	3.06	T	-0.954	T	0.007	T	0.116	0.493	6.674	2.49	0.189	-0.378	8.091	0.027	.	0.0078	0.00838658	0.0030	0.0203	0.0027	0	0	0.0017	0.0066	0	0.0030983	479	154602	rs7082522	0.0018	0.0018	0.0018	0.0017	0.0222	0.0017	0.0017	0.0208	0.0203	0.0222	0.0042	0.0073	2.519e-05	3.744e-05	0.0104	0.0010	0.0042	8.115e-05	0.0074	0.0074	0.0076	0.0072	0.0217	0.0071	0.0069	0.0205	0.0200	0.0217	0.0055	0.0061	0.0078	0	0	0.0204	0.0012	0.0071	0	0.141	0.25560	T	0.256	0.23298	T	.	.	.	.	.	.	0.055461	0.22641	N	0.311072	0.999875	0.19925	N	.	.	.	3.06	0.08634	T	-0.81	0.22294	N	0.087	0.06454	-0.9541	0.40256	T	0.007	0.02282	T	10	0.0027615726	0.00043	T	.	.	.	0.027	0.05988	.	.	0.043077524339	0.03247	0.2180928918519626	0.21725	0.283218286441	0.30771	.	.	.	.	.	.	-0.65109	0.00071	T	-0.691103	0.06325	T	0.00143804782973993	0.00014	T	0.542346	0.18433	T	.	.	.	.	.	.	.	.	-3.67	0.18876	T	.	.	0.088	0.11797	B	.;.	.;.	0.962435	0.13393	9.896	0.89368848344161944	0.18737	0.17318	0.19785	N	AEFDBHCI	0.059029	0.11119	N	-0.817556475553716	0.12861	0.6297269	-0.738848264615493	0.15997	0.8441194	0.940671996663854	0.27442	0.651	0.46895	0	0.615513	0.52658	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.05	2.49	0.29274	-0.313000	0.08143	0.919000	0.22689	0.665000	0.62972	0.000000	0.06391	0.001000	0.17328	0.903000	0.43903	0.0:0.3649:0.0:0.6351	8.091	0.29962	711	0.56613	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2331.98	33	chr10	96982331	.	T	C	2331.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.086e+00;DP=996;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=-5.170e-01;SOR=0.668	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1190	20	0	1	0
chr10	97366167	97366167	C	T	exonic	RRP12	.	nonsynonymous SNV	RRP12:NM_001284337:exon26:c.G3158A:p.R1053Q	.	.	402	1118	2	0	0	2	0.000893655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.989	D	0.000	D	1.000	D	3.04	M	0.88	T	-0.191	T	0.353	T	0.825	5.112	32	4.28	1.163	7.318	13.697	0.425	.	0.0031	0.00159744	0.0046	0.0019	0.0045	0	0.0133	0.0051	0.0088	0.0031	0.004366	675	154602	rs139305944	0.0049	0.0050	0.0050	0.0049	0.0050	0.0048	0.0048	0.0049	0.0049	0.0008	0.0024	0.0108	0	0.0130	0.0005	0.0050	0.0048	0.0031	0.0039	0.0039	0.0034	0.0045	0.0048	0.0037	0.0036	0.0044	0.0042	0.0010	0.0132	0.0006	0.0072	0	0.0154	0	0.0048	0.0014	0.0029	0.004	0.65419	D	0.005	0.92824	D	1.0	0.90584	D	0.982	0.78396	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.02	0.86243	M	0.88	0.46412	T	-3.37	0.66896	D	0.925	0.92901	-0.1909	0.77905	T	0.353	0.71619	T	10	0.01132524	0.00248	T	.	.	.	0.425	0.73299	.	.	0.793235099267	0.79131	0.6268899746400892	0.62621	0.725541865451	0.62459	0.48590940237	0.36872	T	0.371251	0.73565	T	-0.153168	0.27816	T	0.00802426	0.70855	D	0.0336146618345535	0.02573	T	0.977902	0.92154	D	0.51728725	0.68103	0.35235226	0.60814	0.51728725	0.68104	0.35235226	0.60814	-10.074	0.74354	D	.	.	0.593	0.68570	P	.;.;.;.;.	.;.;.;.;.	5.480452	0.91376	32	0.99946734142647831	0.99913	0.96391	0.68909	D	AEFDBCIJ	0.866318	0.78570	D	0.757458941356287	0.83390	8.004957	0.674876147030588	0.80476	7.307179	0.999999999976639	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.19	4.28	0.50183	7.185000	0.77253	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.863000	0.40966	0.0:0.8451:0.1549:0.0	13.697	0.62065	442	0.79946	.;.;.;.;.	RRP12	Muscle_Skeletal	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1383.98	34	chr10	97366167	.	C	T	1383.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.800e-02;DP=1058;ExcessHet=0.0000;FS=0.693;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.83;ReadPosRankSum=2.42;SOR=0.582	GT:AD:DP:GQ:PL	0/0:77,0:77:99:0,120,1800	20	0	1	0
chr10	97371008	97371008	C	T	exonic	RRP12	.	nonsynonymous SNV	RRP12:NM_001284337:exon18:c.G2117A:p.G706E	.	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.684	P	0.376	B	0.000	D	1.000	N	1.355	L	-0.3	T	-0.869	T	0.201	T	0.447	1.041	9.252	2.14	0.148	0.510	15.154	0.196	0.0493195505805	7.7e-05	0.000399361	0.0002	0	0	0	0	3.067e-05	0.0034	0.0011	0.0001617	25	154602	rs377396525	9.988e-05	9.987e-05	6.398e-05	0.0001	0.0010	8.646e-05	8.135e-05	0.0008	0.0008	0	2.236e-05	3.827e-05	2.519e-05	0	0.0002	4.137e-05	0.0002	0.0010	6.57e-05	7.218e-05	3.857e-05	9.405e-05	0.0006	3.516e-05	2.616e-05	0.0002	8.996e-05	0	0	0.0001	0	0.0002	0	0	1.47e-05	0.0014	0.0006	0.025	0.47320	D	0.031	0.54934	D	0.549	0.38101	P	0.209	0.37260	B	0.000240	0.47286	D	0.247568	1	0.08975	N	1.935	0.51832	L	-0.3	0.67874	T	-1.23	0.31170	N	0.256	0.28965	-0.8693	0.50582	T	0.201	0.55723	T	10	0.014602512	0.00307	T	0.04932	0.63763	D	0.196	0.47777	.	.	0.432716982437	0.42889	0.5369901277932718	0.53624	0.223476937198	0.24875	0.381730318069	0.22502	T	0.018127	0.14670	T	-0.337871	0.05537	T	-0.308545	0.43815	T	0.0562625926651113	0.06567	T	0.859214	0.55036	D	0.08761561	0.20410	0.1579018	0.36900	0.08761561	0.20409	0.1579018	0.36899	-10.338	0.75910	D	.	.	0.257	0.52010	B	.;.;.;.	.;.;.;.	2.179283	0.27780	17.58	0.9470505738578856	0.25362	0.19774	0.20790	N	AEFDBCI	0.098384	0.19827	N	-0.980928158929782	0.09011	0.424766	-1.01572163296685	0.09440	0.4696304	0.99221408916734	0.32759	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.2	2.14	0.26518	0.568000	0.23326	2.752000	0.34542	-0.217000	0.08171	0.000000	0.06391	0.678000	0.26104	0.751000	0.35822	0.0:0.6027:0.3973:0.0	15.154	0.72407	427	0.81056	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1037.98	36	chr10	97371008	.	C	T	1037.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.481;DP=863;ExcessHet=0.0000;FS=4.267;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.36;ReadPosRankSum=-5.640e-01;SOR=0.338	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1620	20	0	1	0
chr10	97401168	97401168	G	A	exonic	RRP12	.	nonsynonymous SNV	RRP12:NM_001145114:exon1:c.C64T:p.H22Y	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.994	D	0.000	N	1.000	D	2.42	M	1.5	T	-0.680	T	0.215	T	0.644	4.983	29.2	5.34	2.656	8.955	18.174	0.238	0.0367685403892	.	.	1.658e-05	0	0	0	0	3.02e-05	0	0	1.29e-05	2	154602	rs753996465	3.215e-05	3.215e-05	3.131e-05	3.3e-05	0.0002	2.478e-05	2.22e-05	3.085e-05	2.753e-05	0	0	0	0	0	0.0002	4.047e-05	1.656e-05	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.024	0.63226	D	0.005	0.72224	D	0.998	0.73220	D	0.897	0.82059	P	0.000000	0.84330	N	0.046223	1	0.81001	D	2.56	0.74772	M	1.45	0.32482	T	-2.56	0.55821	D	0.555	0.58031	-0.6801	0.61368	T	0.215	0.57666	T	10	0.4910593	0.60994	T	0.036769	0.57199	D	0.238	0.54217	0.217	0.13788	0.764209397972	0.76206	0.37680421552296894	0.37595	1.69966180657	0.90266	0.788077056408	0.80150	T	0.044036	0.32370	T	0.0424013	0.57359	T	-0.161384	0.58228	T	0.980013608932495	0.73133	D	0.938506	0.81930	D	0.6313992	0.74373	0.7226988	0.83624	0.6313992	0.74374	0.7226988	0.83625	-4.825	0.34881	T	.	.	0.193	0.47665	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.075747	0.84686	28.4	0.99734088989705905	0.82975	0.96236	0.68162	D	ALL	0.900681	0.84649	D	0.884332807390303	0.90972	10.65309	0.858182380993439	0.93484	12.07389	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	5.34	5.34	0.75982	9.132000	0.93737	11.508000	0.92991	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.174	0.89688	401	0.82673	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	800.98	35	chr10	97401168	.	G	A	800.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.460e-01;DP=797;ExcessHet=0.0000;FS=1.992;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=-6.150e-01;SOR=0.446	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1143	20	0	1	0
chr10	97458699	97458699	C	T	exonic	MMS19	.	nonsynonymous SNV	MMS19:NM_001330128:exon29:c.G2792A:p.G931D	.	.	425	1067	27	3	0	33	0.0152284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	1.0	D	1.0	D	0.000	D	1.000	D	1.87	L	3.01	T	-1.192	T	0.072	T	0.952	4.605	25.1	5.86	2.784	6.152	20.243	0.085	0.0249108139565	0.0061	0.00219649	0.0070	0.0014	0.0078	0	0.0007	0.0095	0.0093	0.0064	0.0049676	768	154602	rs36023427	0.0057	0.0058	0.0056	0.0059	0.0142	0.0056	0.0056	0.0117	0.0108	0.0012	0.0037	0.0142	0	0.0002	0.0142	0.0061	0.0061	0.0063	0.0049	0.0049	0.0055	0.0043	0.0074	0.0046	0.0045	0.0069	0.0067	0.0015	0.0033	0.0048	0.0124	0.0002	0.0005	0.0238	0.0074	0.0100	0.0050	0.0	0.91255	D	0.007	0.69154	D	0.999	0.90584	D	0.986	0.97372	D	0.000001	0.84330	D	0.056148	1	0.81001	D	1.5	0.37844	L	3.01	0.12055	T	-2.15	0.60665	N	0.54	0.56748	-1.1917	0.00224	T	0.072	0.29163	T	10	0.008618265	0.00195	T	0.024911	0.47894	T	0.298	0.61843	.	.	0.772050974514	0.76996	0.3776198050390584	0.37676	0.616997827486	0.56145	0.703409254551	0.67638	T	0.004579	0.03988	T	-0.117231	0.33577	T	0.0628346	0.74433	D	0.0331436649349962	0.02495	T	0.907909	0.67446	D	0.5464228	0.69756	0.7367198	0.84439	0.5464228	0.69757	0.7367198	0.84440	-8.812	0.74276	D	.	.	0.524	0.74253	A	.;.;.;.	.;.;.;.	4.647030	0.74039	26.1	0.99834872584856071	0.91628	0.98598	0.84531	D	AEFBCI	0.873629	0.79610	D	0.771121570252534	0.84273	8.241691	0.777914714424203	0.88220	9.500903	0.999999999998667	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.86	5.86	0.93936	6.230000	0.72251	7.726000	0.67550	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	20.243	0.98388	375	0.84013	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1132.98	34	chr10	97458699	.	C	T	1132.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.521e+00;DP=782;ExcessHet=0.0000;FS=1.011;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.71;ReadPosRankSum=-1.430e-01;SOR=0.948	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1271	20	0	1	0
chr10	97468295	97468295	T	C	exonic	MMS19	.	nonsynonymous SNV	MMS19:NM_001289403:exon12:c.A1046G:p.N349S	.	.	434	1087	1	0	0	1	0.00045977	.	.	2728771	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.97	T	0.001	B	0.001	B	0.003	N	1.000	N	0.55	N	-0.07	T	-1.019	T	0.091	T	0.023	-0.239	2.847	1.42	0.431	0.956	5.115	0.071	0.0144127926326	.	.	0.0001	0	0	0	0	7.545e-05	0	0.0005	9.06e-05	14	154602	rs756719334	7.405e-05	7.388e-05	5.592e-05	9.237e-05	0.0009	6.262e-05	5.82e-05	0.0003	0.0002	2.997e-05	0	7.674e-05	0	0	0.0009	5.766e-05	0.0001	0.0003	4.596e-05	4.593e-05	6.425e-05	2.685e-05	7.35e-05	2.108e-05	1.526e-05	2.846e-05	1.858e-05	0	0	0	0.0003	0	0	0.0034	7.35e-05	0	0	0.713	0.04056	T	0.951	0.02610	T	0.0	0.02946	B	0.001	0.04355	B	0.002574	0.36316	N	0.331162	1	0.81001	D	-0.41	0.02942	N	-0.07	0.63738	T	0.48	0.03041	N	0.175	0.24135	-1.0186	0.24171	T	0.091	0.34765	T	10	0.0657419	0.08915	T	0.014413	0.34508	T	0.071	0.20720	0.606	0.73825	0.486257639955	0.48257	0.10803738714671685	0.10732	0.103536362242	0.11719	0.388834953308	0.23505	T	7.14E-4	0.00326	T	-0.511732	0.00491	T	-0.642843	0.09463	T	0.0117561399016501	0.00181	T	0.809419	0.45992	T	0.018875109	0.00411	0.02759498	0.00923	0.018875109	0.00411	0.02759498	0.00923	-0.211	0.00475	T	.	.	0.051	0.00297	B	.;.;.	.;.;.	0.068254	0.04772	1.391	0.62648902690614017	0.07017	0.77840	0.38321	D	AEFDGBI	0.168357	0.29511	N	-0.877143973802112	0.11387	0.5492828	-0.782684916820485	0.14919	0.7820868	0.999988446247265	0.51787	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.12	1.42	0.21524	0.981000	0.29124	0.101000	0.14649	0.665000	0.62972	0.781000	0.29485	0.007000	0.19602	0.074000	0.16894	0.0:0.3044:0.1637:0.5319	5.115	0.14160	381	0.83684	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2274.98	34	chr10	97468295	.	T	C	2274.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.17;DP=909;ExcessHet=0.0000;FS=1.707;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=-7.720e-01;SOR=0.657	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr10	97572598	97572598	G	C	exonic	ANKRD2	.	nonsynonymous SNV	ANKRD2:NM_001291218:exon1:c.G149C:p.G50A,	.	.	372	1143	7	0	0	7	0.00305277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0169728	.	.	.	.	.	.	.	.	0.0059551	155	26028	rs41290450	0.0038	0.0034	0.0038	0.0037	0.0735	0.0037	0.0036	0.0711	0.0701	0.0002	0.0003	0.0021	0.0735	0.0226	0.0006	0.0005	0.0064	0.0027	0.0055	0.0055	0.0043	0.0067	0.0711	0.0052	0.0050	0.0651	0.0627	0.0005	0	0.0024	0.0026	0.0711	0.0264	0	0.0013	0.0061	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1049.98	33	chr10	97572598	.	G	C	1049.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.760e-01;DP=1004;ExcessHet=0.0000;FS=3.030;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=-6.880e-01;SOR=0.377	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1271	20	0	1	0
chr10	97641067	97641067	G	C	exonic	PI4K2A	.	nonsynonymous SNV	PI4K2A:NM_018425:exon1:c.G325C:p.E109Q,	.	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.002	B	0.006	B	0.000	D	1.000	D	1.04	L	.	.	-0.977	T	0.165	T	0.18	0.373	6.024	2.62	0.206	6.006	15.626	0.147	0.486928876565	.	.	7.498e-05	0	0	0	0	0	0	0.0005	4.53e-05	7	154602	rs775524546	2.748e-05	2.736e-05	8.207e-06	4.694e-05	0.0005	2.072e-05	1.824e-05	0.0003	0.0003	0	0	0	0	0	0	0	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.21304	T	0.33	0.18560	T	0.002	0.09854	B	0.006	0.12133	B	0.000000	0.84330	D	0.000000	0.998343	0.81001	D	1.35	0.33515	L	.	.	.	-1.13	0.29114	N	0.134	0.13055	-0.9769	0.35705	T	0.165	0.50307	T	9	0.12840497	0.24427	T	0.486929	0.94935	D	0.147	0.38986	0.276	0.22845	0.382607109125	0.37878	0.5895355065880216	0.58883	1.09498715062	0.77549	0.716350018978	0.69514	T	0.097457	0.40029	T	-0.348892	0.04798	T	-0.393997	0.34085	T	0.0570807539983236	0.06702	T	0.953705	0.82322	D	0.290593	0.52047	0.18324864	0.41303	0.290593	0.52047	0.18324864	0.41302	-5.728	0.43942	T	.	.	0.101	0.17615	B	.	.	2.600963	0.33759	19.43	0.69759115354959722	0.09076	0.69917	0.34379	D	ALL	0.455576	0.50780	N	-1.04653702988301	0.07655	0.3563722	-0.974482713802981	0.10361	0.5213108	0.999998862325583	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.53	2.62	0.30337	6.341000	0.72926	9.369000	0.80433	-0.309000	0.06099	1.000000	0.71638	1.000000	0.68203	0.002000	0.04165	0.0:0.1412:0.8588:0.0	15.626	0.76605	444	0.79803	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	501.98	33	chr10	97641067	.	G	C	501.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.198;DP=747;ExcessHet=0.0000;FS=1.289;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=-2.250e+00;SOR=0.430	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1104	20	0	1	0
chr10	97679697	97679697	G	T	exonic	AVPI1	.	nonsynonymous SNV	AVPI1:NM_021732:exon2:c.C209A:p.A70D,	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.992	D	0.856	P	.	.	0.986	D	1.895	L	0.31	T	-0.504	T	0.198	T	0.774	4.379	23.1	5.09	2.637	4.733	17.424	0.264	.	0.0002	0.00479233	0.0019	0.0004	8.807e-05	0.0256	0	0	0.0011	0.0002	0.0018628	288	154602	rs117859077	0.0006	0.0006	0.0006	0.0006	0.0175	0.0006	0.0006	0.0164	0.0160	8.961e-05	0.0002	0	0.0175	0	0	6.295e-06	0.0029	0.0001	0.0009	0.0009	0.0008	0.0010	0.0245	0.0008	0.0008	0.0210	0.0197	9.62e-05	0	0.0003	0	0.0245	0	0	0	0.0024	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.992	0.64738	D	0.856	0.61001	P	.	.	.	.	0.985712	0.40324	D	2.25	0.63811	M	0.31	0.58613	T	-4.52	0.78302	D	0.834	0.82964	-0.5039	0.68509	T	0.198	0.55357	T	9	0.008652985	0.00196	T	.	.	.	0.264	0.57741	.	.	0.806097659105	0.80428	0.6702710605043344	0.66965	0.22043886262	0.24588	0.544473767281	0.45078	T	0.208157	0.56802	T	-0.188175	0.22526	T	-0.0200799	0.69024	D	0.0874558709819365	0.10912	T	0.723528	0.33695	T	0.8398534	0.86598	0.86082256	0.92235	0.8398534	0.86599	0.86082256	0.92236	-4.475	0.30560	T	.	.	0.7	0.72959	P	.	.	4.844974	0.79132	27.0	0.99765450835130587	0.85417	0.84461	0.43543	D	AEFBCI	0.594975	0.58970	D	0.659828352913795	0.77008	6.592444	0.650354476510225	0.78636	6.91644	0.999999880666485	0.74766	0.460665	0.09802	0	0.550933	0.16991	0	0.575934	0.27490	0	0.567892	0.33627	0	.	.	5.09	5.09	0.68647	4.794000	0.62175	11.812000	0.96965	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	17.424	0.87413	529	0.73716	Arginine vasopressin-induced protein 1/transcriptional and immune response regulator	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	997.98	34	chr10	97679697	.	G	T	997.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.456e+00;DP=890;ExcessHet=0.0000;FS=3.608;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.50;ReadPosRankSum=-1.312e+00;SOR=0.604	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1109	20	0	1	0
chr10	98209741	98209741	G	C	exonic	R3HCC1L	.	nonsynonymous SNV	R3HCC1L:NM_001351016:exon2:c.G1627C:p.V543L	.	.	425	1058	39	0	0	39	0.0180974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	B	0.037	B	0.279	N	1.000	N	1.935	M	2.8	T	-1.000	T	0.013	T	0.104	-0.034	3.838	-2.64	-0.297	-0.504	10.172	0.009	.	0.0038	0.00379393	0.0038	0.0014	0.0050	0	0.0011	0.0052	0.0055	0.0017	0.003978	615	154602	rs148867373	0.0052	0.0052	0.0053	0.0051	0.0170	0.0051	0.0051	0.0143	0.0133	0.0017	0.0042	0.0100	2.52e-05	0.0012	0.0170	0.0058	0.0057	0.0020	0.0037	0.0037	0.0040	0.0034	0.0055	0.0034	0.0033	0.0050	0.0048	0.0011	0	0.0048	0.0078	0.0002	0.0018	0.0136	0.0055	0.0080	0.0008	0.01	0.56456	D	0.094	0.41239	T	0.029	0.19866	B	0.017	0.18140	B	0.278874	0.14983	N	0.624373	1	0.18198	N	2.455	0.71248	M	2.8	0.11082	T	-1.03	0.27052	N	0.051	0.02272	-1.0001	0.29888	T	0.013	0.05225	T	9	0.0033772886	0.00059	T	.	.	.	0.009	0.00846	0.165	0.06955	0.117506650769	0.11410	0.03523678591436901	0.03470	0.0179236615725	0.01753	0.29893258214	0.10242	T	0.017047	0.13973	T	-0.635718	0.00088	T	-0.681797	0.06875	T	0.00776321408992993	0.00091	T	0.776522	0.40874	T	0.02987695	0.02556	0.07009616	0.14850	0.02987695	0.02556	0.07009616	0.14850	-3.339	0.14245	T	.	.	0.137	0.31482	B	.;.;.;.	.;.;.;.	-0.093127	0.03683	0.745	0.81718824883297669	0.13825	0.06191	0.12176	N	AEFBI	0.044330	0.07119	N	-1.13936193443589	0.05956	0.2729676	-1.23120727583972	0.05416	0.2579731	0.995126147704923	0.33964	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.15	-2.64	0.05757	-0.466000	0.06749	-0.520000	0.08695	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.039000	0.14166	0.6126:0.0:0.3874:0.0	10.172	0.42093	767	0.49651	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1658.98	38	chr10	98209741	.	G	C	1658.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.732e+00;DP=991;ExcessHet=0.0000;FS=6.448;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=1.33;SOR=1.230	GT:AD:DP:GQ:PL	0/0:119,0:119:99:0,120,1800	20	0	1	0
chr10	98256817	98256817	C	T	exonic	LOXL4	.	nonsynonymous SNV	LOXL4:NM_032211:exon9:c.G1391A:p.R464Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.83	M	1.08	T	-0.288	T	0.318	T	0.914	5.759	36	5.08	2.354	6.055	17.242	0.501	0.120724182654	.	0.000199681	0.0001	0	0	0	0	1.5e-05	0	0.0008	0.0001035	16	154602	rs558093031	4.652e-05	4.652e-05	3.131e-05	6.188e-05	0.0005	3.728e-05	3.411e-05	0.0004	0.0004	0	0	0	2.519e-05	0	0	1.349e-05	8.279e-05	0.0005	5.25e-05	5.249e-05	5.138e-05	5.368e-05	0.0006	2.554e-05	1.828e-05	0.0002	8.989e-05	0	0	6.531e-05	0	0	0	0	4.41e-05	0.0005	0.0006	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.5	0.72771	M	1.08	0.39401	T	-3.29	0.65742	D	0.667	0.67564	-0.2876	0.75332	T	0.318	0.68717	T	10	0.5729313	0.65420	D	0.120724	0.80133	D	0.501	0.78413	0.808	0.92512	0.65114355821	0.64824	0.8954470839324996	0.89515	0.427668763586	0.43109	0.56383895874	0.47809	T	0.222945	0.58694	T	-0.0162142	0.49391	T	0.118428	0.78132	D	0.740929365158081	0.42787	D	0.953705	0.82322	D	0.7645199	0.81720	0.6941059	0.81993	0.7645199	0.81722	0.6941059	0.81994	-9.487	0.70778	D	.	.	0.214	0.44319	B	.	.	4.988159	0.82676	27.8	0.9995468981193304	0.99969	0.91535	0.53733	D	AEFDBCI	0.854563	0.77160	D	0.79239360925567	0.85626	8.632867	0.725043624137626	0.84280	8.24833	0.999999999999969	0.74766	0.554377	0.28877	0	0.550933	0.16991	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.08	5.08	0.68373	5.027000	0.63888	4.938000	0.46187	0.599000	0.40250	0.872000	0.30832	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.242	0.86901	756	0.51065	SRCR domain|SRCR domain|SRCR-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1314.98	33	chr10	98256817	.	C	T	1314.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.365;DP=816;ExcessHet=0.0000;FS=0.734;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=2.28;SOR=0.775	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr10	98383842	98383842	G	A	exonic	PYROXD2	.	stopgain	PYROXD2:NM_032709:exon16:c.C1702T:p.R568X,	.	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	5.796	36	3.46	0.584	3.755	13.950	.	.	7.7e-05	0.00279553	0.0014	0	8.637e-05	0.0001	0	0.0001	0	0.0099	0.0012225	189	154602	rs148254477	0.0007	0.0007	0.0003	0.0010	0.0103	0.0006	0.0006	0.0097	0.0095	5.974e-05	0	0	2.519e-05	0	0	4.496e-05	0.0004	0.0103	0.0004	0.0004	0.0003	0.0005	0.0108	0.0003	0.0003	0.0085	0.0076	2.417e-05	0	0	0	0	0	0	0.0001	0.0005	0.0108	.	.	.	.	.	.	.	.	.	.	.	.	0.000002	0.62929	D	0.106936	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.156	0.16168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255519	0.79115	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.553060	0.99064	41	0.99667045204806681	0.78330	0.88085	0.47861	D	AEFDBI	0.148358	0.27223	N	0.600717636104709	0.73219	5.930733	0.441555175455663	0.64176	4.666909	0.999627731903408	0.41093	0.653281	0.48532	0	0.633656	0.55848	0	0.616094	0.41390	0	0.669	0.65921	0	.	.	5.39	3.46	0.38718	3.805000	0.55280	6.557000	0.55928	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.0:0.0:0.7228:0.2772	13.950	0.63623	725	0.54935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	704.98	88	chr10	98383842	.	G	A	704.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.690e-01;DP=796;ExcessHet=0.0000;FS=1.805;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.01;ReadPosRankSum=1.22;SOR=0.798	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr10	98392430	98392430	A	C	splicing	PYROXD2	NM_032709:exon10:c.1062+2T>G	.	.	.	.	428	1089	5	0	0	5	0.00229043	1.0000	0.94	2523796	Leigh_syndrome	MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:506	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.600	14.66	5.0	1.865	8.509	14.405	.	.	.	.	8.292e-05	0	0	0	0	0.0001	0	6.222e-05	8.41e-05	13	154602	rs199640378	8.145e-05	8.14e-05	7.764e-05	8.53e-05	0.0023	6.939e-05	6.49e-05	0.0013	0.0011	0.0003	6.709e-05	0	0	0	0.0023	6.835e-05	0.0002	5.798e-05	8.562e-05	8.542e-05	7.725e-05	9.44e-05	0.0001	4.969e-05	3.971e-05	7.918e-05	6.001e-05	2.421e-05	0	0	0	0	0	0	0.0001	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0131164	0.49829	T	-0.0199487	0.69032	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.897913	0.80482	27.3	0.99366369496913998	0.61240	0.98084	0.79462	D	AEFBHCI	.	.	.	1.00836279071477	0.95996	14.18727	0.810581919512467	0.90519	10.44468	0.999999999793016	0.74766	0.162113	0.03585	0	0.18701	0.04157	0	0.083675	0.02720	0	0.24566	0.04862	0	0.896785	0.56392	5.0	5.0	0.66209	8.728000	0.91213	11.167000	0.87842	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.125000	0.19370	1.0:0.0:0.0:0.0	14.405	0.66648	768	0.49510	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1806.98	41	chr10	98392430	.	A	C	1806.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.632e+00;DP=848;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.01;ReadPosRankSum=1.90;SOR=0.639	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1277	20	0	1	0
chr10	98429810	98429810	C	A	exonic	HPS1	.	nonsynonymous SNV	HPS1:NM_001322480:exon7:c.G587T:p.G196V	Hermansky-Pudlak syndrome 1, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	1886109	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.23	T	0.554	P	0.244	B	0.002	N	1.000	N	0.69	N	1.61	T	-1.066	T	0.073	T	0.076	0.058	4.318	0.151	-0.063	0.961	3.274	0.048	0.0301203275644	.	.	2.483e-05	0	0	0	0	4.525e-05	0	0	1.94e-05	3	154602	rs74154475	2.053e-05	2.052e-05	1.77e-05	2.338e-05	5.797e-05	1.456e-05	1.264e-05	2.194e-05	1.43e-05	0	2.236e-05	0	0	0	0	2.158e-05	0	5.797e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	0	0	0.0002	0.265	0.16305	T	0.415	0.34241	T	0.554	0.38213	P	0.244	0.38795	B	0.001574	0.00800	N	2.870320	1	0.08975	N	1.39	0.34934	L	1.61	0.42122	T	-0.96	0.25551	N	0.197	0.24510	-1.0655	0.10432	T	0.073	0.29515	T	10	0.07109341	0.10432	T	0.03012	0.52495	D	0.048	0.13305	0.169	0.07419	0.188950314367	0.18478	0.23237630519454713	0.23152	0.221833039639	0.24722	0.26722034812	0.05781	T	0.069725	0.33781	T	-0.442799	0.01245	T	-0.671173	0.07534	T	0.0496178790926933	0.05434	T	0.351465	0.08961	T	0.026163831	0.01640	0.033603717	0.02284	0.026163831	0.01639	0.033603717	0.02284	-4.218	0.32209	T	.	.	0.091	0.20430	B	.;.;.;.	.;.;.;.	0.407008	0.07781	4.468	0.55688320436832706	0.05394	0.29693	0.23889	N	AEFDBCI	0.174245	0.30136	N	-1.15801165998637	0.05649	0.2580881	-1.23287260028405	0.05390	0.2566792	0.0165486004274947	0.12843	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.15	0.151	0.14183	0.352000	0.19851	0.095000	0.14569	-0.900000	0.02330	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1831:0.516:0.0:0.3009	3.274	0.06486	835	0.38313	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0.02381	1340.98	43	chr10	98429810	.	C	A	1340.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=939;ExcessHet=0.0000;FS=16.315;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=0.224;SOR=1.654	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	20	0	1	0
chr10	98431242	98431242	G	A	exonic	HPS1	.	nonsynonymous SNV	HPS1:NM_001322483:exon6:c.C188T:p.A63V	Hermansky-Pudlak syndrome 1, Autosomal recessive	.	0	1438	80	4	0	88	0.0296896	.	.	207810	not_provided|not_specified|Hermansky-Pudlak_syndrome|Hermansky-Pudlak_syndrome_1	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430|MONDO:MONDO:0008748,MedGen:C2931875,OMIM:203300,Orphanet:231500,Orphanet:79430	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.267	B	0.025	B	0.002	N	0.942	N	0.49	N	1.64	T	-1.001	T	0.041	T	0.233	0.254	5.375	1.37	0.629	2.749	7.055	0.054	.	0.0013	0.00599042	0.0050	0.0002	0.0016	0.0002	0	0.0020	0.0059	0.0265	0.0043143	667	154602	rs1801286	0.0027	0.0027	0.0018	0.0037	0.0275	0.0027	0.0026	0.0265	0.0262	0.0003	0.0013	0.0002	2.519e-05	5.643e-05	0.0151	0.0011	0.0038	0.0275	0.0020	0.0020	0.0018	0.0022	0.0226	0.0018	0.0017	0.0191	0.0178	0.0003	0	0.0013	0.0003	0	9.416e-05	0.0102	0.0021	0.0057	0.0226	1.0	0.00964	T	1.0	0.01155	T	0.021	0.31683	B	0.01	0.20508	B	0.002153	0.37138	N	0.314930	0.998406	0.26759	N	1.15	0.29295	L	1.64	0.41058	T	0.91	0.09627	N	0.134	0.14905	-1.0010	0.29631	T	0.041	0.17657	T	10	0.0071870685	0.00163	T	.	.	.	0.054	0.15330	.	.	0.268660756437	0.26461	0.14885547693182344	0.14807	0.146048444311	0.16491	0.331832438707	0.15211	T	0.070263	0.33916	T	-0.530698	0.00380	T	-0.514138	0.20891	T	0.003796283524488	0.00040	T	0.834017	0.50983	T	0.01461896	0.00101	0.026975624	0.00819	0.018808953	0.00403	0.028544946	0.01099	-8.403	0.64237	D	0.1050717186731348	0.08288	0.097	0.28348	B	.;.;.;.;.	.;.;.;.;.	2.102873	0.26757	17.23	0.90117148773238731	0.19398	0.68994	0.34014	D	AEFDBIJ	0.165861	0.29240	N	-0.825552417871028	0.12659	0.6184846	-0.688407324566909	0.17250	0.916387	0.0558207521864077	0.15031	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.3	1.37	0.21200	2.767000	0.47321	2.119000	0.30708	-0.113000	0.14837	0.995000	0.38783	0.914000	0.28189	0.796000	0.37562	0.5083:0.0:0.4917:0.0	7.055	0.24272	826	0.39940	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	1157.98	40	chr10	98431242	.	G	A	1157.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.770e-01;DP=869;ExcessHet=0.0000;FS=1.928;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.04;ReadPosRankSum=-1.560e+00;SOR=0.970	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr10	98443214	98443214	C	G	exonic	HPS1	.	nonsynonymous SNV	HPS1:NM_000195:exon3:c.G27C:p.E9D	Hermansky-Pudlak syndrome 1, Autosomal recessive	YES	0	1512	10	0	0	10	0.00329598	.	.	311911	not_specified|not_provided|Hermansky-Pudlak_syndrome|Hermansky-Pudlak_syndrome_1	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430|MONDO:MONDO:0008748,MedGen:C2931875,OMIM:203300,Orphanet:231500,Orphanet:79430	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.999	D	0.943	D	0.000	D	0.978	D	2.24	M	1.47	T	-0.998	T	0.103	T	0.331	3.642	18.52	0.483	0.166	0.357	8.575	0.144	.	0.0042	0.00459265	0.0016	0.0130	0.0014	0	0	0.0006	0	0.0001	0.0017011	263	154602	rs7914192	0.0009	0.0009	0.0009	0.0008	0.0138	0.0008	0.0008	0.0127	0.0123	0.0138	0.0026	0	0.0001	0	0.0081	0.0004	0.0028	0.0002	0.0040	0.0040	0.0039	0.0042	0.0120	0.0038	0.0037	0.0111	0.0108	0.0120	0	0.0042	0	0	0	0.0034	0.0005	0.0062	0	0.112	0.34621	T	0.041	0.52060	D	0.995	0.77913	D	0.858	0.67921	P	0.000013	0.62929	D	0.111010	0.977656	0.39387	D	2.57	0.75187	M	1.47	0.31987	T	-1.4	0.34596	N	0.171	0.19728	-0.9983	0.30395	T	0.103	0.37919	T	10	0.00729838	0.00166	T	.	.	.	0.144	0.38394	0.397	0.42426	0.252681307341	0.24864	0.5602575712252362	0.55952	0.152108551472	0.17161	0.480261653662	0.36092	T	0.137529	0.47052	T	-0.480947	0.00730	T	-0.452592	0.27410	T	0.0176005658342346	0.00493	T	0.905809	0.66782	D	0.05464702	0.10513	0.07127513	0.15244	0.065598436	0.14035	0.065546155	0.13301	-9.206	0.69921	D	0.2355084455467367	0.31888	0.166	0.36673	B	.;.;.;.	.;.;.;.	2.183723	0.27838	17.60	0.99713304300734629	0.81493	0.75384	0.36907	D	AEFDBCI	0.330109	0.43025	N	0.20853426575813	0.51610	3.341074	0.0948989334595912	0.44291	2.713758	0.998844893951038	0.37800	0.706548	0.73137	0	0.672317	0.65289	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.62	0.483	0.16030	0.139000	0.15858	0.177000	0.15587	0.599000	0.40250	0.937000	0.32526	0.935000	0.28640	0.902000	0.43815	0.0:0.5504:0.0:0.4496	8.575	0.32751	807	0.43470	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2605.98	33	chr10	98443214	.	C	G	2605.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.012e+00;DP=922;ExcessHet=0.0000;FS=1.031;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=0.840;SOR=0.593	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1475	20	0	1	0
chr10	99661522	99661522	G	A	exonic	ENTPD7	.	nonsynonymous SNV	ENTPD7:NM_001349963:exon3:c.G85A:p.V29M	.	.	429	1035	57	1	0	59	0.0277125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.911	P	0.491	P	0.009	N	0.996	N	0.55	N	2.43	T	-1.068	T	0.033	T	0.502	3.266	16.96	4.77	1.377	1.251	11.196	0.062	.	0.0012	0.00199681	0.0034	9.612e-05	0.0036	0	0.0003	0.0025	0.0066	0.0113	0.0029495	456	154602	rs35229854	0.0020	0.0020	0.0016	0.0024	0.0206	0.0019	0.0019	0.0176	0.0165	0.0001	0.0030	0.0064	0	0.0003	0.0206	0.0011	0.0029	0.0118	0.0015	0.0015	0.0014	0.0016	0.0112	0.0014	0.0013	0.0088	0.0080	0.0001	0	0.0021	0.0078	0	9.454e-05	0.0034	0.0016	0.0029	0.0112	0.037	0.43085	D	0.174	0.30045	T	0.911	0.50336	P	0.491	0.47360	P	0.008670	0.30726	N	0.274711	0.996233	0.23076	N	1.5	0.37844	L	2.43	0.15261	T	-0.45	0.14782	N	0.528	0.55713	-1.0678	0.09903	T	0.033	0.14247	T	10	0.009385347	0.00212	T	.	.	.	0.062	0.17934	.	.	0.139678290688	0.13603	0.30423648248339563	0.30336	0.300151110896	0.32375	0.574234604836	0.49276	T	0.012203	0.10769	T	-0.465401	0.00909	T	-0.430905	0.29832	T	0.0340382042267121	0.02645	T	0.748625	0.36937	T	0.037930403	0.04957	0.052645225	0.08714	0.037930403	0.04957	0.052645225	0.08714	-4.611	0.32310	T	.	.	0.116	0.23360	B	.	.	2.997068	0.40031	21.1	0.99836436235638792	0.91714	0.39375	0.26199	N	ALL	0.077766	0.15674	N	0.0143417437295452	0.42508	2.562465	0.0522063431327149	0.42178	2.546715	1.0	0.98316	0.730579	0.87903	0	0.633656	0.55848	0	0.49644	0.08281	0	0.648885	0.59868	0	.	.	5.68	4.77	0.60425	1.296000	0.32994	4.278000	0.42871	-0.153000	0.12021	0.995000	0.38783	1.000000	0.68203	0.950000	0.49671	0.0:0.1384:0.7181:0.1435	11.196	0.47943	838	0.37812	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2567.11	35	chr10	99661522	.	G	A	2567.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.10;DP=870;ExcessHet=0.1072;FS=3.059;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=2.02;SOR=0.902	GT:AD:DP:GQ:PL	0/1:57,52:109:99:1338,0,1320	19	0	2	0
chr10	99797306	99797306	G	A	exonic	ABCC2	.	nonsynonymous SNV	ABCC2:NM_000392:exon7:c.G842A:p.S281N,	Dubin-Johnson syndrome, Autosomal recessive	.	0	1483	38	1	0	40	0.0133067	.	.	195580	Dubin-Johnson_syndrome|not_specified|not_provided	MONDO:MONDO:0009380,MedGen:C0022350,OMIM:237500,Orphanet:234|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.67	T	0.883	P	0.4	B	0.000	D	0.960	N	2.17	M	0.77	T	-0.820	T	0.109	T	0.175	2.595	14.64	5.61	2.635	3.204	15.121	0.112	.	0.0052	0.00399361	0.0066	0.0024	0.0053	0.0001	0.0088	0.0092	0.0093	0.0020	0.005595	865	154602	rs56131651	0.0068	0.0069	0.0070	0.0067	0.0111	0.0067	0.0067	0.0089	0.0081	0.0016	0.0053	0.0091	2.523e-05	0.0067	0.0111	0.0076	0.0065	0.0023	0.0054	0.0054	0.0053	0.0055	0.0074	0.0051	0.0050	0.0069	0.0067	0.0016	0.0099	0.0064	0.0081	0.0004	0.0073	0.0068	0.0074	0.0095	0.0027	0.142	0.25457	T	0.281	0.21612	T	0.883	0.48537	P	0.4	0.44481	B	0.000134	0.49741	D	0.134180	0.960121	0.38163	D	0	0.06538	N	0.77	0.49642	T	-0.51	0.15986	N	0.306	0.34552	-0.8202	0.53921	T	0.109	0.39509	T	10	0.0060174763	0.00135	T	.	.	.	0.112	0.31546	.	.	0.724806583605	0.72237	0.3081425537827062	0.30727	0.15302378806	0.17264	0.481644958258	0.36283	T	0.060603	0.31430	T	-0.515271	0.00468	T	-0.5078	0.21541	T	0.02477180599758	0.01243	T	0.721628	0.33490	T	0.11233808	0.26539	0.13723007	0.32808	0.1276766	0.29870	0.13723007	0.32807	-3.653	0.18627	T	.	.	0.194	0.41526	B	.;.	.;.	3.853465	0.55833	23.7	0.98265279446445175	0.39703	0.88793	0.48893	D	AEFBCI	0.679332	0.64339	D	0.349949557232264	0.58738	4.047859	0.412236943043777	0.62325	4.446194	0.999999982469538	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.61	5.61	0.85347	3.271000	0.51311	11.807000	0.96822	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	0.0:0.0:1.0:0.0	15.121	0.72117	810	0.42761	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	1692.11	36	chr10	99797306	.	G	A	1692.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.100e+00;DP=820;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.28;ReadPosRankSum=2.30;SOR=0.744	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1142	19	0	2	0
chr10	99804260	99804260	G	A	exonic	ABCC2	.	nonsynonymous SNV	ABCC2:NM_000392:exon10:c.G1451A:p.S484N,	Dubin-Johnson syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.003	B	0.013	B	0.047	N	1.000	D	0.83	L	-2.64	D	-0.819	T	0.425	T	0.028	0.609	7.280	-3.39	-0.411	1.787	5.007	0.204	0.0466277013545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.10278	T	0.49	0.11551	T	0.003	0.11197	B	0.013	0.16460	B	0.047197	0.23368	N	0.502127	0.821571	0.28875	N	-0.06	0.04898	N	-2.64	0.90147	D	-1.4	0.34596	N	0.048	0.01999	-0.8185	0.54028	T	0.425	0.76863	T	10	0.16213697	0.30395	T	0.046628	0.62545	D	0.204	0.49076	0.585	0.71245	0.721272653275	0.71880	0.6532732661007561	0.65263	0.036459508934	0.03857	0.421774089336	0.28081	T	0.223694	0.58791	T	-0.184031	0.23138	T	-0.502124	0.22128	T	0.33729562163353	0.26516	T	0.356464	0.08103	T	0.05336251	0.10088	0.08191441	0.18655	0.05336251	0.10087	0.08191441	0.18655	-5.124	0.38159	T	0.22363893039914107	0.30191	0.14	0.30686	B	.;.	.;.	0.776464	0.11463	8.069	0.76786623329663439	0.11609	0.61396	0.31472	D	AEFBCI	0.144547	0.26753	N	-1.02551231682111	0.08077	0.3774529	-1.00796679567604	0.09609	0.4790658	0.999894358988219	0.45129	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.41	-3.39	0.04563	1.460000	0.34855	1.800000	0.28874	-0.118000	0.14412	0.987000	0.36337	0.666000	0.26041	0.283000	0.24091	0.1931:0.219:0.4859:0.1019	5.007	0.13638	794	0.45591	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	883.98	37	chr10	99804260	.	G	A	883.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.625;DP=826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=-7.500e-02;SOR=0.602	GT:AD:DP:GQ:PL	0/1:33,34:67:99:898,0,830	20	0	1	0
chr10	99834500	99834500	G	A	exonic	ABCC2	.	nonsynonymous SNV	ABCC2:NM_000392:exon24:c.G3379A:p.V1127I,	Dubin-Johnson syndrome, Autosomal recessive	.	0	1513	9	0	0	9	0.0029654	.	.	192961	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.001	B	0.004	B	0.000	N	1.000	D	-0.94	N	-2.36	D	-0.753	T	0.260	T	0.083	-1.558	0.015	-0.036	-0.247	0.640	10.951	0.301	0.15059769257	7.7e-05	0.000199681	0.0002	9.61e-05	0.0002	0	0	0.0002	0	0.0007	0.0001876	29	154602	rs370049107	0.0001	0.0001	0.0001	0.0001	0.0016	0.0001	0.0001	0.0008	0.0006	0	0.0004	0.0015	2.519e-05	0	0.0016	4.766e-05	0.0004	0.0005	0.0001	0.0001	8.999e-05	0.0002	0.0012	8.664e-05	7.256e-05	0.0005	0.0004	0	0	6.539e-05	0.0012	0	0	0.0068	8.822e-05	0.0005	0.0012	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.004	0.10090	B	0.000224	0.47286	N	0.244651	0.598185	0.30963	N	-1.06	0.01056	N	-2.36	0.88143	D	0.62	0.02442	N	0.231	0.25989	-0.7531	0.57773	T	0.260	0.63099	T	10	0.015184313	0.00319	T	0.150598	0.83226	D	0.301	0.62179	.	.	0.438170831126	0.43439	0.21865689833944185	0.21781	0.0328127421132	0.03431	0.266648471355	0.05708	T	0.091976	0.38908	T	-0.407721	0.02058	T	-0.462646	0.26312	T	0.00337042982054998	0.00036	T	0.287271	0.05164	T	0.0175054	0.00278	0.04331393	0.05359	0.0175054	0.00278	0.04331393	0.05359	-2.422	0.05269	T	0.07645626079696136	0.03495	0.065	0.01859	B	.;.	.;.	-0.710071	0.01297	0.069	0.39375784221966786	0.02713	0.24575	0.22436	N	ALL	0.166385	0.29296	N	-1.4578306419197	0.02156	0.09488812	-1.28389658119181	0.04647	0.2197169	0.999999999518805	0.74766	0.553676	0.25195	0	0.588066	0.40923	0	0.578056	0.29568	0	0.620846	0.47308	0	.	.	5.18	-0.0359	0.13218	0.471000	0.21811	-0.235000	0.10642	-1.401000	0.01141	0.767000	0.29322	0.001000	0.17328	0.000000	0.00833	0.7972:0.0:0.2028:0.0	10.951	0.46540	714	0.56256	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1772.98	37	chr10	99834500	.	G	A	1772.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.15;DP=838;ExcessHet=0.0000;FS=8.578;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=0.637;SOR=0.792	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1246	20	0	1	0
chr10	99879911	99879911	T	C	exonic	DNMBP	.	nonsynonymous SNV	DNMBP:NM_001318326:exon13:c.A3344G:p.N1115S	.	.	418	1101	3	0	0	3	0.00136054	.	.	3203491	DNMBP-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.46	T	0.028	B	0.007	B	0.004	N	0.978	N	0.625	N	2.73	T	-1.039	T	0.050	T	0.021	1.732	11.75	3.13	0.882	0.518	8.441	0.041	0.00641411738027	.	0.000798722	0.0007	0	0	0	0	1.498e-05	0.0011	0.0050	0.0005821	90	154602	rs200530625	0.0003	0.0003	0.0002	0.0005	0.0052	0.0003	0.0003	0.0048	0.0046	5.974e-05	0	0	2.519e-05	0	0.0007	8.093e-06	0.0003	0.0052	0.0002	0.0002	0.0001	0.0003	0.0054	0.0001	0.0001	0.0038	0.0032	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0.0054	0.099	0.30656	T	0.287	0.21210	T	0.008	0.14655	B	0.005	0.11217	B	0.003603	0.34713	N	0.129883	0.977928	0.25282	N	1.98	0.53716	M	2.68	0.12371	T	-1.49	0.36385	N	0.101	0.08366	-1.0392	0.17556	T	0.050	0.21378	T	10	0.0057646036	0.00128	T	0.006414	0.16870	T	0.041	0.10877	.	.	0.425970041486	0.42213	0.2236812327213109	0.22283	0.12052743132	0.13571	0.35972905159	0.19346	T	0.028153	0.20459	T	-0.674723	0.00052	T	-0.740879	0.03854	T	0.0249474992130272	0.01265	T	0.814918	0.46941	T	0.09301009	0.21834	0.07167412	0.15375	0.09301009	0.21834	0.07167412	0.15375	-2.321	0.04672	T	.	.	0.079	0.08609	B	.;.;.	.;.;.	1.009594	0.13885	10.44	0.98786913760995021	0.46222	0.38800	0.26070	N	AEFDGBCI	0.069021	0.13641	N	-0.69361483742264	0.16202	0.8234035	-0.587738692009003	0.19812	1.06468	0.999999627637161	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	5.49	3.13	0.35090	0.537000	0.22854	0.167000	0.15474	0.663000	0.56723	0.186000	0.24138	0.000000	0.08366	0.141000	0.19983	0.0:0.1535:0.0:0.8465	8.441	0.31973	554	0.71839	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3343.98	40	chr10	99879911	.	T	C	3343.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.904;DP=996;ExcessHet=0.0000;FS=4.026;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.12;ReadPosRankSum=-1.932e+00;SOR=0.945	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1230	20	0	1	0
chr10	99929961	99929961	T	C	exonic	DNMBP	.	nonsynonymous SNV	DNMBP:NM_001318326:exon1:c.A803G:p.Y268C,	.	.	424	1086	12	0	0	12	0.00549451	.	.	3210188	DNMBP-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00279553	0.0096	0	0	0	0	0	0	0.0155	0.0009056	140	154602	rs552702605	0.0019	0.0016	0.0011	0.0025	0.0133	0.0018	0.0017	0.0126	0.0123	6.332e-05	0.0006	0.0002	3.115e-05	0	0.0032	0.0004	0.0012	0.0133	0.0006	0.0006	0.0005	0.0007	0.0120	0.0005	0.0005	0.0095	0.0087	0.0001	0	0.0003	0	0	0	0	0.0003	0.0024	0.0120	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0045203567	0.00093	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.473153	0.14076	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10883	B	.	.	-0.403275	0.02200	0.219	0.55676102711941455	0.05392	0.06415	0.12420	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.999971726773416	0.50053	0.099367	0.02607	0	0.104858	0.03167	0	0.083675	0.02720	0	0.119812	0.03901	0	0.0545974	0.12435	5.67	-4.82	0.02938	-0.892000	0.04239	-3.559000	0.02696	-0.122000	0.13826	0.000000	0.06391	0.000000	0.08366	0.079000	0.17189	0.0:0.5486:0.1404:0.311	9.574	0.38610	409	0.82198	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3613.98	34	chr10	99929961	.	T	C	3613.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.46;DP=2051;ExcessHet=0.0000;FS=3.199;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=-4.930e-01;SOR=0.668	GT:AD:DP:GQ:PL	0/0:108,0:108:99:0,120,1800	20	0	1	0
chr10	100220598	100220598	A	G	exonic	CHUK	.	nonsynonymous SNV	CHUK:NM_001278:exon5:c.T464C:p.V155A	Cocoon syndrome	.	9	1467	42	4	0	50	0.016756	.	.	1278497	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.88	T	0.001	B	0.005	B	0.014	N	0.529	N	-0.405	N	-0.1	T	-1.051	T	0.011	T	0.193	-0.720	0.908	4.72	1.036	2.628	8.846	0.133	.	0.0010	0.0207668	0.0126	0.0004	0.0023	0.0580	0	0.0017	0.0088	0.0534	0.0112741	1743	154602	rs2230803	0.0057	0.0057	0.0044	0.0071	0.0552	0.0056	0.0056	0.0533	0.0525	0.0004	0.0013	0.0067	0.0552	5.63e-05	0.0082	0.0009	0.0090	0.0496	0.0050	0.0050	0.0040	0.0061	0.0592	0.0047	0.0046	0.0538	0.0516	0.0006	0.0022	0.0022	0.0078	0.0592	0	0.0068	0.0014	0.0061	0.0539	1.0	0.00964	T	0.751	0.04790	T	0.001	0.07471	B	0.005	0.11217	B	0.013895	0.28700	N	0.360137	0.529365	0.31504	N	0.715	0.18665	N	-0.1	0.64264	T	0.18	0.05035	N	0.064	0.03613	-1.0512	0.14064	T	0.011	0.04321	T	10	0.0019171834	0.00026	T	.	.	.	0.133	0.36157	.	.	.	.	0.3774204968572709	0.37657	0.672962783049	0.59561	0.488521426916	0.37233	T	0.066124	0.32865	T	-0.498435	0.00583	T	-0.437693	0.29068	T	0.00267601300508277	0.00028	T	0.539346	0.18229	T	0.03628747	0.04434	0.03791049	0.03543	0.03628747	0.04433	0.03791049	0.03543	-4.96	0.36403	T	.	.	0.083	0.09336	B	.	.	1.222298	0.16164	12.36	0.24233075997388187	0.01062	0.90637	0.51979	D	AEFBI	0.298826	0.40804	N	-0.737328779990361	0.14979	0.7509123	-0.481896636289056	0.22652	1.231441	0.853176855870355	0.25083	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.85	4.72	0.59248	2.650000	0.46329	3.530000	0.38948	-0.056000	0.16711	1.000000	0.71638	1.000000	0.68203	0.652000	0.32748	0.9151:0.0:0.0849:0.0	8.846	0.34329	820	0.40914	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1552.98	33	chr10	100220598	.	A	G	1552.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.880e-01;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.51;ReadPosRankSum=-2.160e-01;SOR=0.623	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1232	20	0	1	0
chr10	100262030	100262030	A	T	exonic	CWF19L1	.	nonsynonymous SNV	CWF19L1:NM_001303404:exon2:c.T57A:p.D19E	Spinocerebellar ataxia, autosomal recessive 17, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.009	B	0.01	B	0.000	D	1.000	D	1.025	L	0.79	T	-0.965	T	0.088	T	0.393	1.884	12.26	4.21	0.988	1.054	9.579	0.095	0.00755826692429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.854e-07	6.84e-07	0	1.378e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.23541	T	0.923	0.02845	T	0.009	0.15093	B	0.01	0.14941	B	0.000001	0.62929	D	0.132637	0.614733	0.32652	D	0.655	0.16177	N	0.79	0.49068	T	-0.92	0.24676	N	0.134	0.13055	-0.9652	0.38171	T	0.088	0.33996	T	10	0.11702058	0.22089	T	0.007558	0.20060	T	0.095	0.27398	0.365	0.37199	0.39709148275	0.39321	0.41548039992075597	0.41464	0.16294634426	0.18388	0.441092729568	0.30726	T	0.001319	0.00791	T	-0.105726	0.35476	T	-0.389644	0.34592	T	0.427888810634613	0.29983	T	0.749125	0.63821	T	0.07289441	0.16251	0.0658091	0.13390	0.07289441	0.16251	0.0658091	0.13390	-4.611	0.32310	T	0.16472802918739968	0.20374	0.115	0.37746	B	.;.	.;.	1.906644	0.24218	16.31	0.9802549915983203	0.37666	0.77996	0.38418	D	AEFBI	0.119611	0.23337	N	-0.322208961251749	0.28307	1.560205	-0.149071402604602	0.33445	1.913147	0.982561747148737	0.30419	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.34	4.21	0.48984	1.163000	0.31408	4.147000	0.42125	0.756000	0.94297	0.994000	0.38300	1.000000	0.68203	0.994000	0.71098	0.9161:0.0:0.0839:0.0	9.579	0.38641	852	0.35056	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	826.98	36	chr10	100262030	.	A	T	826.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=763;ExcessHet=0.0000;FS=2.328;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.31;ReadPosRankSum=-1.286e+00;SOR=0.412	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1113	20	0	1	0
chr10	100288427	100288427	C	T	exonic	PKD2L1	.	nonsynonymous SNV	PKD2L1:NM_001253837:exon16:c.G2246A:p.R749H	.	.	427	1048	45	2	0	49	0.0228438	.	.	723712	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.11	T	0.0	B	0.0	B	.	.	1.000	N	0	N	0.38	T	-1.029	T	0.075	T	0.173	1.087	9.436	-6.61	-1.526	-3.756	7.408	0.075	.	0.0008	0.00199681	0.0024	9.625e-05	0.0016	0.0002	0	0.0012	0.0044	0.0112	0.0021086	326	154602	rs142439136	0.0014	0.0014	0.0010	0.0019	0.0142	0.0014	0.0014	0.0121	0.0118	0.0001	0.0011	0.0017	2.519e-05	5.616e-05	0.0142	0.0006	0.0019	0.0127	0.0011	0.0011	0.0009	0.0012	0.0108	0.0009	0.0009	0.0084	0.0076	0.0002	0	0.0007	0.0012	0	0	0.0238	0.0011	0.0019	0.0108	0.551	0.06564	T	0.236	0.24694	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.24	0.59583	T	-2.29	0.50992	N	0.014	0.00160	-1.0290	0.20778	T	0.075	0.30335	T	9	0.0033938587	0.00059	T	.	.	.	0.075	0.21907	.	.	0.256283259241	0.25257	0.23419068029819137	0.23334	0.0822587675246	0.09278	0.198136895895	0.00405	T	0.082556	0.36854	T	-0.572676	0.00213	T	-0.584998	0.14101	T	0.0107580637357385	0.00152	T	0.365463	0.08501	T	0.024329975	0.01253	0.04724396	0.06762	0.024329975	0.01253	0.04724396	0.06762	-4.527	0.31240	T	.	.	0.097	0.15609	B	.	.	-0.471885	0.01959	0.169	0.59807317873006993	0.06311	0.00450	0.02181	N	AEFBI	0.044907	0.07281	N	-1.63518622830802	0.01099	0.04770569	-1.72754793295962	0.01021	0.0457736	0.999999368689944	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.08	-6.61	0.01652	-3.743000	0.00424	-11.204000	0.00625	-1.727000	0.00720	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.167:0.263:0.57	7.408	0.26174	816	0.41767	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1428.98	33	chr10	100288427	.	C	T	1428.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.800e-01;DP=790;ExcessHet=0.0000;FS=0.749;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=0.343;SOR=0.824	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr10	100291342	100291342	T	C	exonic	PKD2L1	.	nonsynonymous SNV	PKD2L1:NM_001253837:exon12:c.A1825G:p.K609E	.	.	436	1047	36	3	0	42	0.0196629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.001	N	0.968	N	-0.06	N	-0.27	T	-1.065	T	0.013	T	0.151	-0.992	0.273	2.16	0.471	1.316	6.369	0.050	.	0.0009	0.0209665	0.0126	0.0004	0.0022	0.0580	0	0.0017	0.0088	0.0536	0.0112806	1744	154602	rs79568268	0.0058	0.0058	0.0044	0.0071	0.0558	0.0056	0.0056	0.0539	0.0531	0.0005	0.0013	0.0067	0.0558	5.617e-05	0.0083	0.0009	0.0089	0.0499	0.0050	0.0050	0.0040	0.0061	0.0591	0.0047	0.0046	0.0536	0.0515	0.0005	0.0022	0.0022	0.0078	0.0591	0	0.0068	0.0014	0.0061	0.0546	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.000825	0.41547	N	0.271399	0.989172	0.25819	N	0.535	0.13693	N	-0.27	0.67367	T	1.0	0.01408	N	0.097	0.07811	-1.0650	0.10549	T	0.013	0.05033	T	10	0.0017721057	0.00023	T	.	.	.	0.050	0.13987	.	.	.	.	0.09170445828702709	0.09103	0.0931337591576	0.10522	0.276419073343	0.06999	T	0.008844	0.08094	T	-0.539104	0.00339	T	-0.49611	0.22751	T	0.000323396377168035	0.00003	T	0.763824	0.39073	T	0.04916066	0.08687	0.068521455	0.14320	0.04916066	0.08686	0.068521455	0.14320	-4.012	0.23983	T	.	.	0.062	0.01290	B	.	.	1.637626	0.20906	14.96	0.5622660041134101	0.05507	0.66007	0.32930	D	AEFDBCI	0.262862	0.38052	N	-0.76563726123605	0.14212	0.7061358	-0.5879741580489	0.19806	1.064319	0.999983876331531	0.51787	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.82	2.16	0.26663	1.080000	0.30390	2.764000	0.34625	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.088000	0.17685	0.0:0.5298:0.0:0.4702	6.369	0.20676	815	0.41851	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1668.98	36	chr10	100291342	.	T	C	1668.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.477;DP=877;ExcessHet=0.0000;FS=3.871;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.20;ReadPosRankSum=0.635;SOR=1.018	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr10	100297085	100297085	G	C	exonic	PKD2L1	.	nonsynonymous SNV	PKD2L1:NM_001253837:exon6:c.C939G:p.C313W	.	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.991	D	0.000	D	1.000	D	2.395	M	-0.52	T	-0.184	T	0.460	T	0.932	1.325	10.35	-2.22	-0.422	-0.182	11.763	0.570	0.315243742758	.	.	2.471e-05	0	8.639e-05	0	0	2.997e-05	0	0	1.94e-05	3	154602	rs150913711	4.789e-06	4.788e-06	5.446e-06	4.125e-06	0.0002	1.99e-06	1.28e-06	8.4e-07	5.7e-07	0	2.236e-05	0	0	0	0.0002	3.598e-06	1.656e-05	0	3.286e-05	3.283e-05	3.854e-05	2.691e-05	7.35e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0	0	0.002	0.72154	D	0.001	0.83351	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.046390	0.999869	0.50061	D	2.885	0.83555	M	-0.52	0.70717	T	-7.57	0.95246	D	0.82	0.81559	-0.1845	0.78067	T	0.460	0.79027	T	10	0.8707615	0.86341	D	0.315244	0.91309	D	0.570	0.82516	0.674	0.81200	0.523650220922	0.52011	0.9646971957464139	0.96456	0.468396034955	0.46186	0.692872405052	0.66118	T	0.374728	0.73847	T	0.219955	0.75772	D	0.161039	0.80870	D	0.86508321762085	0.51522	D	0.894511	0.63379	D	0.9158588	0.92848	0.8711945	0.92949	0.9158588	0.92849	0.8711945	0.92949	-14.798	0.95361	D	.	.	0.673	0.71852	P	.	.	1.747391	0.22230	15.54	0.98805374684760849	0.46525	0.19009	0.20491	N	AEFBCI	0.598674	0.59198	D	-0.462456265735494	0.23319	1.251433	-0.692856475465341	0.17138	0.9099797	0.861564201797916	0.25236	0.608966	0.35542	0	0.610034	0.51514	0	0.769059	0.98459	0	0.530356	0.10902	0	.	.	4.95	-2.22	0.06560	-0.215000	0.09284	0.303000	0.17000	-0.707000	0.03972	0.000000	0.06391	0.003000	0.18671	0.336000	0.25340	0.5123:0.0:0.4877:0.0	11.763	0.51185	818	0.41518	Polycystin cation channel, PKD1/PKD2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2574.98	35	chr10	100297085	.	G	C	2574.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.209;DP=1231;ExcessHet=0.0000;FS=0.442;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.43;ReadPosRankSum=-6.800e-01;SOR=0.660	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1359	20	0	1	0
chr10	100481066	100481066	T	C	exonic	WNT8B	.	nonsynonymous SNV	WNT8B:NM_003393:exon4:c.T310C:p.C104R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.235	H	-2.89	D	1.094	D	0.929	D	0.995	4.714	26.2	5.93	2.271	8.040	16.383	0.947	0.406567233612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.605	0.99268	H	-2.89	0.91589	D	-11.95	0.99600	D	0.993	0.99863	1.094	0.99408	D	0.929	0.97655	D	10	0.9928733	0.99822	D	0.406567	0.93509	D	0.947	0.98955	0.967	0.99679	0.934034491412	0.93335	0.9816209295266485	0.98154	2.54765427674	0.97855	0.938637673855	0.99403	D	0.896049	0.97925	D	0.492607	0.94075	D	0.469819	0.93998	D	0.999968528747559	0.99918	D	0.942806	0.78426	D	0.97775555	0.98934	0.9721947	0.99557	0.97775555	0.98934	0.9721947	0.99557	-12.956	0.89181	D	.	.	0.999	0.98504	P	.	.	5.638983	0.92730	33	0.99766218144113816	0.85500	0.90480	0.51691	D	AEFBCI	0.945853	0.95465	D	1.04636690919868	0.97003	15.44701	0.960200127660477	0.97697	16.59405	0.999999999999946	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	5.93	5.93	0.95888	8.017000	0.88732	7.841000	0.70530	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.383	0.83317	750	0.51762	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	902.98	34	chr10	100481066	.	T	C	902.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.475;DP=783;ExcessHet=0.0000;FS=5.210;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.41;ReadPosRankSum=-1.561e+00;SOR=0.713	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1095	20	0	1	0
chr10	100490238	100490238	C	G	exonic	SEC31B	.	nonsynonymous SNV	SEC31B:NM_015490:exon21:c.G2735C:p.G912A,	.	.	424	1094	3	1	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.005	B	0.009	B	0.114	N	1.000	N	1.265	L	0.67	T	-1.031	T	0.084	T	0.097	-0.178	3.133	2.53	0.245	1.090	4.186	0.025	0.00742358848357	7.7e-05	.	6.671e-05	0	8.711e-05	0	0.0002	9.063e-05	0	0	5.17e-05	8	154602	rs372086301	6.09e-05	6.088e-05	6.672e-05	5.502e-05	0.0012	5.029e-05	4.673e-05	0.0006	0.0004	0	2.239e-05	0	0	0.0001	0.0012	6.206e-05	6.624e-05	1.16e-05	5.921e-05	5.911e-05	5.146e-05	6.733e-05	8.826e-05	3.081e-05	2.213e-05	3.764e-05	2.576e-05	0	0	0	0	0	0.0003	0	8.826e-05	0	0	0.281	0.15458	T	0.516	0.10607	T	0.005	0.12996	B	0.004	0.10090	B	0.114424	0.19275	N	0.570411	1	0.08975	N	2.175	0.60977	M	0.67	0.52187	T	-0.65	0.18877	N	0.183	0.19861	-1.0314	0.20002	T	0.084	0.32843	T	10	0.03805819	0.02199	T	0.007424	0.19685	T	0.025	0.05312	.	.	0.0884992946249	0.08302	0.2939726826192717	0.29310	0.0347712706754	0.03660	0.324701488018	0.14134	T	0.002123	0.01528	T	-0.373913	0.03401	T	-0.570326	0.15420	T	0.0392155815356565	0.03548	T	0.616838	0.23625	T	0.023508457	0.01096	0.02889795	0.01170	0.023508457	0.01096	0.02889795	0.01170	-3.839	0.21388	T	.	.	0.076	0.05890	B	.	.	0.679988	0.10482	7.201	0.64601521857436928	0.07539	0.13513	0.17898	N	AEFDBI	0.050134	0.08733	N	-0.967933155960505	0.09295	0.4392942	-0.962636152752117	0.10631	0.5366645	0.543444094744224	0.21272	0.706548	0.73137	0	0.724815	0.89359	0	0.687403	0.62504	0	0.635551	0.53088	0	.	.	5.48	2.53	0.29594	1.243000	0.32370	1.586000	0.27502	-0.182000	0.10109	0.009000	0.18154	0.005000	0.19230	0.192000	0.21661	0.1635:0.5927:0.1579:0.0859	4.186	0.09859	756	0.51065	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1169.98	34	chr10	100490238	.	C	G	1169.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.869;DP=895;ExcessHet=0.0000;FS=15.646;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.75;ReadPosRankSum=-3.029e+00;SOR=1.629	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr10	100944093	100944093	A	G	exonic	SLF2	.	nonsynonymous SNV	SLF2:NM_001136123:exon12:c.A2722G:p.T908A	.	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.492	N	1.000	N	-0.55	N	1.49	T	-0.975	T	0.018	T	0.074	1.268	10.14	-6.53	-0.891	-0.556	5.997	0.041	0.00660096717342	7.7e-05	.	7.547e-05	9.737e-05	0.0005	0	0	1.531e-05	0.0011	0	5.82e-05	9	154602	rs151321115	2.67e-05	2.736e-05	2.044e-05	3.303e-05	0.0004	1.999e-05	1.756e-05	0.0003	0.0002	2.995e-05	0.0004	0	0	0	0.0002	8.998e-06	9.944e-05	3.491e-05	3.286e-05	3.283e-05	5.138e-05	1.345e-05	0.0002	1.261e-05	7.98e-06	5.287e-05	2.835e-05	2.412e-05	0	0.0002	0	0	0	0	0	0	0.0002	0.706	0.04456	T	1.0	0.02490	T	0.0	0.02946	B	0.001	0.04355	B	0.492102	0.12045	N	0.769799	0.927958	0.27132	N	.	.	.	1.49	0.31470	T	0.27	0.04306	N	0.079	0.07949	-0.9745	0.36235	T	0.018	0.07518	T	10	0.018327624	0.00398	T	0.006601	0.17415	T	0.041	0.10877	.	.	0.0482279557977	0.04254	0.2326436973707212	0.23179	0.150098835107	0.16931	0.290779560804	0.09036	T	0.001676	0.01102	T	-0.585078	0.00180	T	-0.74405	0.03723	T	0.00584729184591497	0.00064	T	0.553945	0.19565	T	0.029802075	0.02535	0.031560447	0.01763	0.029802075	0.02534	0.031560447	0.01763	-3.51	0.16572	T	.	.	0.059	0.00847	B	.;.	.;.	0.587351	0.09560	6.334	0.74352028938663517	0.10663	0.20768	0.21162	N	AEFDBI	0.026804	0.02075	N	-1.15259728768762	0.05737	0.2623411	-1.03764221140528	0.08966	0.443536	0.759722404935963	0.23490	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.37	-6.53	0.01697	-0.472000	0.06702	-0.556000	0.08502	0.567000	0.28720	0.657000	0.28234	0.000000	0.08366	0.962000	0.52141	0.2316:0.0:0.4504:0.3181	5.997	0.18729	602	0.67834	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1888.98	33	chr10	100944093	.	A	G	1888.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.865;DP=844;ExcessHet=0.0000;FS=2.983;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=-6.320e-01;SOR=0.624	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1342	20	0	1	0
chr10	100990470	100990470	G	A	exonic	TWNK	.	nonsynonymous SNV	TWNK:NM_001163812:exon3:c.G1519A:p.V507I	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), Autosomal recessive;Perrault syndrome 5, Autosomal recessive;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	171770	Perrault_syndrome_5|Perrault_syndrome|not_provided|not_specified	MONDO:MONDO:0014504,MedGen:C4015307,OMIM:616138,Orphanet:2855|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orphanet:2855|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.34	T	0.669	P	0.188	B	0.002	N	0.591	N	0.85	L	-0.15	T	0.016	D	0.584	D	0.102	2.733	15.10	4.84	1.580	2.980	8.397	0.724	0.172435434232	7.7e-05	0.000199681	8.237e-06	0	0	0	0	0	0	6.057e-05	1.29e-05	2	154602	rs369588002	1.163e-05	1.163e-05	9.529e-06	1.375e-05	0.0003	7.09e-06	5.79e-06	6.092e-05	2.521e-05	0	4.472e-05	0	0	0	0.0003	9.893e-06	1.656e-05	1.159e-05	1.969e-05	1.968e-05	1.285e-05	2.685e-05	0.0004	5.24e-06	2.45e-06	7.293e-05	3.03e-05	0	0	6.533e-05	0	0	0	0	0	0	0.0004	0.132	0.26519	T	0.039	0.51112	D	0.637	0.41149	P	0.188	0.36237	B	0.002250	0.36929	N	0.228496	0.59072	0.32454	D	2.105	0.58435	M	-0.15	0.93928	T	-0.59	0.17624	N	0.696	0.70088	0.016	0.82582	D	0.584	0.85052	D	10	0.25000972	0.42321	T	0.172435	0.84942	D	0.724	0.90280	.	.	0.4147015802	0.41088	0.3335980080253733	0.33272	0.5939459802	0.54724	.	.	.	0.371019	0.73546	T	-0.144149	0.29231	T	-0.242182	0.50585	T	0.251246571540833	0.22929	T	0.835916	0.52772	T	0.044669088	0.07179	0.043727312	0.05505	0.03896705	0.05291	0.040032778	0.04233	-6.578	0.54202	T	0.18711358879173207	0.24383	0.103	0.21315	B	.;.;.;.	.;.;.;.	3.021580	0.40446	21.2	0.98448954120553589	0.41598	0.83159	0.42300	D	AEFDGBCI	0.180629	0.30793	N	-0.15082859053391	0.35199	2.018794	-0.0177452763239355	0.38914	2.299498	0.999996286478917	0.74766	0.67177	0.52595	0	0.581341	0.33841	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.73	4.84	0.62125	2.956000	0.48822	7.467000	0.59112	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.2279:0.0:0.7721:0.0	8.397	0.31725	552	0.72024	DNA helicase, DnaB-like, C-terminal;DNA helicase, DnaB-like, C-terminal;.;DNA helicase, DnaB-like, C-terminal	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1343.98	34	chr10	100990470	.	G	A	1343.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.520e-01;DP=825;ExcessHet=0.0000;FS=3.173;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.34;ReadPosRankSum=1.59;SOR=0.575	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1129	20	0	1	0
chr10	101003626	101003627	GG	-	exonic	LZTS2	.	frameshift deletion	LZTS2:NM_001318099:exon3:c.528_529del:p.G177Qfs*23	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2109.94	35	chr10	101003625	.	AGG	A	2109.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.22;DP=840;ExcessHet=0.0000;FS=0.666;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.75;ReadPosRankSum=-8.250e-01;SOR=0.588	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1295	20	0	1	0
chr10	101006630	101006630	G	C	exonic	LZTS2	.	nonsynonymous SNV	LZTS2:NM_001318101:exon3:c.G812C:p.R271P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.637	P	0.661	P	0.003	N	0.996	D	1.845	L	0.86	T	-0.802	T	0.181	T	0.731	3.176	16.63	4.76	1.367	1.767	6.124	0.219	0.0241636689935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.089	0.40426	T	0.637	0.40341	P	0.661	0.52837	P	0.002872	0.35804	N	0.279986	0.995959	0.42940	D	2.28	0.64929	M	0.86	0.46777	T	-3.15	0.64132	D	0.522	0.55540	-0.8016	0.55050	T	0.181	0.52752	T	10	0.49352574	0.61132	T	0.024164	0.47155	T	0.219	0.51417	0.515	0.61459	0.541252434104	0.53778	0.6785592402222832	0.67794	0.630294044216	0.57025	0.768734931946	0.77236	T	0.253592	0.62413	T	0.0336755	0.56213	T	-0.189404	0.55647	T	0.971785962581635	0.69448	D	0.747925	0.36851	T	0.7248602	0.79433	0.5520138	0.74095	0.7248602	0.79435	0.5520138	0.74095	-9.023	0.67845	D	.	.	0.451	0.63324	A	.;.	.;.	4.836379	0.78912	27.0	0.9919358222753053	0.55053	0.68527	0.33836	D	AEFBCIJ	0.656017	0.62815	D	0.167136313076938	0.49627	3.16092	0.164001474008249	0.47887	3.012413	0.999998381761563	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.67	4.76	0.60189	1.799000	0.38459	7.570000	0.60688	0.590000	0.31872	0.625000	0.27956	1.000000	0.68203	0.812000	0.38265	0.1531:0.1641:0.6828:0.0	6.124	0.19387	554	0.71839	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	488.98	33	chr10	101006630	.	G	C	488.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.293;DP=706;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.11;ReadPosRankSum=0.295;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1088	20	0	1	0
chr10	101006872	101006872	C	T	exonic	LZTS2	.	nonsynonymous SNV	LZTS2:NM_001318101:exon3:c.C1054T:p.R352W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.977	D	0.581	P	0.001	D	0.998	D	1.79	L	0.61	T	-0.806	T	0.164	T	0.764	4.518	24.3	3.17	0.607	1.193	13.087	0.276	0.116010814835	.	.	.	.	.	.	.	.	.	.	.	.	.	rs924657673	1.526e-05	3.831e-05	1.567e-05	1.483e-05	0.0004	9.81e-06	8.32e-06	7.101e-05	2.958e-05	0	2.893e-05	9.086e-05	0	0	0.0004	1.219e-05	0	4.05e-05	6.578e-06	6.568e-06	0	1.347e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.001	0.78490	D	0.068	0.44106	T	0.977	0.58535	D	0.581	0.50218	P	0.000561	0.43413	D	0.195957	0.998493	0.44993	D	2.105	0.58435	M	0.61	0.53516	T	-4.7	0.79829	D	0.381	0.42247	-0.8059	0.54795	T	0.164	0.50176	T	10	0.3054611	0.48063	T	0.116011	0.79537	D	0.276	0.59253	.	.	0.551663723333	0.54823	0.44117365238653544	0.44034	0.452373610566	0.44962	0.731557548046	0.71733	T	0.232391	0.59894	T	0.0968641	0.63951	D	-0.0986379	0.63504	T	0.395498492301823	0.28772	T	0.890411	0.62412	D	0.43412915	0.63021	0.4630955	0.68830	0.43412915	0.63022	0.4630955	0.68831	-6.625	0.51244	T	.	.	0.171	0.37558	B	.;.	.;.	4.637270	0.73792	26.0	0.99915215516181755	0.98379	0.82672	0.41868	D	AEFDBCI	0.717002	0.66866	D	0.257859650992913	0.54028	3.569552	0.237440363705687	0.51937	3.372202	0.999999850651305	0.74766	0.706548	0.73137	0	0.708844	0.79440	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	5.1	3.17	0.35510	1.290000	0.32925	4.001000	0.41074	0.524000	0.24156	0.879000	0.30968	1.000000	0.68203	0.979000	0.57723	0.2929:0.7071:0.0:0.0	13.087	0.58558	554	0.71839	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1956.11	33	chr10	101006872	.	C	T	1956.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.82;DP=874;ExcessHet=0.1072;FS=0.655;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.93;ReadPosRankSum=0.838;SOR=0.807	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,100,1260	19	0	2	0
chr10	101007118	101007118	G	A	exonic	LZTS2	.	nonsynonymous SNV	LZTS2:NM_001318101:exon3:c.G1300A:p.E434K	.	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.804	P	0.124	B	0.110	U	0.999	D	0	N	1.53	T	-0.928	T	0.044	T	0.399	4.877	27.9	4.72	2.321	7.927	17.659	0.173	0.00747166490719	.	0.000399361	0.0006	0.0001	0.0005	0	0.0004	0.0008	0	0.0003	0.0004204	65	154602	rs183747098	0.0003	0.0003	0.0002	0.0003	0.0014	0.0002	0.0002	0.0007	0.0005	0	0.0006	0	0	0.0003	0.0014	0.0003	0.0004	0.0002	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0007	0.0005	2.405e-05	0	0.0010	0	0	9.418e-05	0	0.0004	0.0005	0.0002	0.277	0.15665	T	0.77	0.04477	T	0.804	0.45171	P	0.124	0.32546	B	0.110000	0.02630	U	1.875640	0.998628	0.45182	D	0.69	0.16971	N	1.53	0.30401	T	-0.37	0.13226	N	0.376	0.42050	-0.9281	0.44415	T	0.044	0.19111	T	10	0.052433938	0.05278	T	0.007472	0.19819	T	0.173	0.43840	.	.	0.364535869594	0.36064	0.4983040144796368	0.49751	0.339384494567	0.35889	0.715533494949	0.69396	T	0.044954	0.26973	T	-0.353929	0.04485	T	-0.383137	0.35356	T	0.046109678548146	0.04804	T	0.869813	0.57430	D	0.10289376	0.24315	0.109615594	0.26419	0.10289376	0.24315	0.109615594	0.26418	-7.41	0.56975	T	.	.	0.103	0.21011	B	.;.	.;.	3.996087	0.58848	24.0	0.9988235930091649	0.95813	0.98621	0.84797	D	AEFDBCI	0.933485	0.92544	D	0.0280860094699419	0.43136	2.612446	0.163886145137599	0.47881	3.011887	0.999999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	4.72	4.72	0.59248	8.078000	0.89313	11.699000	0.94472	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0:0.0:1.0:0.0	17.659	0.88089	554	0.71839	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1012.98	33	chr10	101007118	.	G	A	1012.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.890e-01;DP=834;ExcessHet=0.0000;FS=0.908;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.27;ReadPosRankSum=-5.820e-01;SOR=0.629	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,100,1260	20	0	1	0
chr10	101035609	101035609	A	T	exonic	SFXN3	.	nonsynonymous SNV	SFXN3:NM_030971:exon4:c.A286T:p.M96L,	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.78	P	0.531	P	0.000	D	1.000	D	2.75	M	1.0	T	-0.593	T	0.205	T	0.842	4.368	23.0	5.11	2.142	9.131	15.066	0.523	0.0229838750796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.015	0.61642	D	.	.	.	.	.	.	0.000000	0.84330	D	0.071266	1	0.81001	D	.	.	.	1.0	0.41392	T	-2.9	0.60827	D	0.827	0.82257	-0.5933	0.65089	T	0.205	0.56348	T	10	0.96328235	0.95766	D	0.022984	0.45924	T	0.523	0.79765	0.946	0.99325	0.354396617058	0.35051	0.8802692419015231	0.87994	0.432362513328	0.43413	0.733068943024	0.71955	T	.	.	.	0.208459	0.74684	D	0.0616601	0.74355	D	0.961322559126622	0.66051	D	0.998893	0.99421	D	0.6315151	0.74379	0.64145	0.79050	0.6315151	0.74381	0.64145	0.79051	-10.157	0.74846	D	.	.	0.782	0.77153	P	.;.	.;.	4.150356	0.62247	24.4	0.97274843194834992	0.33153	0.99274	0.93794	D	AEFBI	0.943276	0.94890	D	0.608669998742606	0.73724	6.012858	0.63222137176013	0.77293	6.651419	0.99999999999878	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.687403	0.62504	0	0.714379	0.83352	0	.	.	5.11	5.11	0.69188	9.318000	0.95450	11.225000	0.89902	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.066	0.71667	657	0.62240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2148.98	35	chr10	101035609	.	A	T	2148.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=848;ExcessHet=0.0000;FS=1.353;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.35;ReadPosRankSum=1.64;SOR=0.682	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr10	101131633	101131633	G	A	exonic	TLX1	.	nonsynonymous SNV	TLX1:NM_001195517:exon1:c.G92A:p.G31D	.	.	8	1463	49	2	0	53	0.0177912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.048	B	0.026	B	0.000	D	0.985	D	0.345	N	-2.53	D	-0.518	T	0.369	T	0.544	2.970	15.90	3.73	0.954	8.131	12.184	0.391	.	0.0066	0.00479233	0.0124	0.0012	0.0019	0.0001	0.0421	0.0129	0.0254	0.0220	0.0099481	1538	154602	rs140202357	0.0098	0.0097	0.0092	0.0103	0.0184	0.0096	0.0096	0.0177	0.0174	0.0013	0.0015	0.0137	0	0.0322	0.0060	0.0088	0.0096	0.0184	0.0084	0.0085	0.0072	0.0097	0.0203	0.0080	0.0079	0.0170	0.0158	0.0013	0	0.0028	0.0127	0	0.0349	0.0068	0.0096	0.0066	0.0203	0.638	0.06243	T	0.649	0.15406	T	0.048	0.22112	B	0.026	0.20792	B	0.000057	0.53742	D	0.164075	0.984985	0.40220	D	0.82	0.20857	L	-2.53	0.91478	D	-0.33	0.13805	N	0.192	0.32812	-0.5182	0.67981	T	0.369	0.72880	T	10	0.0049960017	0.00107	T	.	.	.	0.391	0.70684	.	.	.	.	0.46037251254148764	0.45955	.	.	0.819229006767	0.84909	D	0.21798	0.58058	T	-0.239343	0.15432	T	-0.10164	0.63272	T	0.028921175539287	0.01825	T	0.728227	0.34274	T	0.14294341	0.32873	0.24847181	0.50399	0.14294341	0.32873	0.24847181	0.50398	-4.792	0.34580	T	.	.	0.548	0.66696	A	.;.	.;.	4.201677	0.63414	24.6	0.99644381663851278	0.76881	0.97764	0.76963	D	AEFDBHCI	0.931201	0.91965	D	-0.303604622031528	0.29010	1.60506	-0.105627792787261	0.35162	2.031048	0.999999997067003	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.63	3.73	0.41982	6.640000	0.74174	9.236000	0.79390	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0849:0.0:0.9151:0.0	12.184	0.53533	765	0.49814	.;.	.	.	.	.	rs140202357	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1898.98	33	chr10	101131633	.	G	A	1898.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.410e-01;DP=852;ExcessHet=0.0000;FS=1.238;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=9.000e-03;SOR=0.809	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,966	20	0	1	0
chr10	101605168	101605168	C	G	exonic	DPCD	.	nonsynonymous SNV	DPCD:NM_001329744:exon5:c.C433G:p.P145A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	N	.	.	0.3	T	-0.918	T	0.126	T	0.051	1.683	11.58	-4.06	-0.859	-0.619	1.337	0.077	0.00342584717201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.3	0.58755	T	-3.26	0.65397	D	0.079	0.05414	-0.9178	0.45851	T	0.126	0.43153	T	6	0.17214775	0.31972	T	0.003426	0.07694	T	0.077	0.22490	0.451	0.51285	0.522664700966	0.51911	.	.	.	.	.	.	.	0.24618	0.61561	T	-0.265091	0.12310	T	-0.618562	0.11297	T	0.192367827105493	0.19983	T	0.325467	0.06691	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.10979	B	.;.	.;.	0.910913	0.12853	9.366	0.78915064859835904	0.12509	0.00988	0.03756	N	AEFDGBIJ	0.014753	0.00248	N	-0.717671544713143	0.15525	0.7831734	-0.927035819094987	0.11457	0.5837898	0.33198778353861	0.19495	0.57788	0.32782	0	0.550933	0.16991	0	0.608075	0.38828	0	0.491896	0.07777	0	.	.	4.29	-4.06	0.03718	-0.618000	0.05674	-0.825000	0.07279	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.114000	0.18915	0.189:0.3211:0.2991:0.1908	1.337	0.02017	365	0.84644	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	856.98	33	chr10	101605168	.	C	G	856.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.260;DP=827;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.02;ReadPosRankSum=-1.938e+00;SOR=0.716	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1407	20	0	1	0
chr10	102066172	102066172	T	G	exonic	HPS6	.	nonsynonymous SNV	HPS6:NM_024747:exon1:c.T698G:p.L233R,	Hermansky-Pudlak syndrome 6	.	0	1445	75	2	0	79	0.0266083	.	.	207733	Hermansky-Pudlak_syndrome_6|not_specified|not_provided	MONDO:MONDO:0013558,MedGen:C3888007,OMIM:614075,Orphanet:231512,Orphanet:79430|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.81	T	0.0	B	0.001	B	0.296	N	1.000	N	1.265	L	-1.05	T	-0.993	T	0.163	T	0.248	-1.357	0.028	2.39	0.870	1.287	1.041	0.080	.	0.0068	0.00359425	0.0075	0.0016	0.0042	0	0.0003	0.0093	0.0124	0.0127	0.0072121	1115	154602	rs36078476	0.0083	0.0083	0.0082	0.0084	0.0182	0.0082	0.0082	0.0154	0.0143	0.0014	0.0050	0.0306	2.519e-05	0.0003	0.0182	0.0084	0.0097	0.0119	0.0062	0.0062	0.0065	0.0059	0.0147	0.0059	0.0057	0.0120	0.0109	0.0016	0.0055	0.0093	0.0259	0.0002	0.0002	0.0068	0.0080	0.0085	0.0147	0.799	0.03125	T	0.309	0.19782	T	0.0	0.02946	B	0.001	0.04355	B	0.295985	0.14683	N	0.686580	1	0.08975	N	2.3	0.65703	M	-1.05	0.76690	T	1.01	0.01387	N	0.259	0.29313	-0.9927	0.31906	T	0.163	0.49980	T	10	0.0056492984	0.00125	T	.	.	.	0.080	0.23350	.	.	0.566228512615	0.56287	0.2699281259415084	0.26905	0.699373421703	0.61030	0.295210570097	0.09689	T	0.119345	0.44081	T	-0.413859	0.01874	T	-0.356868	0.38415	T	0.00708485113408285	0.00081	T	0.511749	0.16382	T	0.059877582	0.12222	0.08159723	0.18555	0.059877582	0.12221	0.08159723	0.18554	-4.568	0.31767	T	0.055239806055071006	0.01217	0.118	0.23952	B	.	.	1.971509	0.25044	16.62	0.72400093041933844	0.09960	0.02923	0.07733	N	AEFDGBHCI	0.090656	0.18369	N	-0.900017182519168	0.10842	0.5201311	-0.815442134888358	0.14121	0.7362293	0.99999999969378	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.52208	0.10781	0	0.603991	0.37454	0	.	.	4.9	2.39	0.28492	1.501000	0.35301	4.406000	0.43264	-0.127000	0.13314	0.084000	0.22438	1.000000	0.68203	0.041000	0.14368	0.2679:0.0946:0.2798:0.3577	1.041	0.01462	527	0.73864	.	.	.	.	.	rs36078476	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.04762	2632.11	35	chr10	102066172	.	T	G	2632.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.517e+00;DP=923;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.01;ReadPosRankSum=0.393;SOR=0.712	GT:AD:DP:GQ:PL	0/1:65,60:125:99:1358,0,1832	19	0	2	0
chr10	102066534	102066534	C	T	exonic	HPS6	.	nonsynonymous SNV	HPS6:NM_024747:exon1:c.C1060T:p.H354Y,	Hermansky-Pudlak syndrome 6	.	0	1515	7	0	0	7	0.00230491	.	.	494109	not_specified|not_provided|Hermansky-Pudlak_syndrome_6	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013558,MedGen:C3888007,OMIM:614075,Orphanet:231512,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.45	T	0.001	B	0.004	B	0.040	N	1.000	N	0.4	N	-1.1	T	-0.962	T	0.208	T	0.166	-0.059	3.712	1.13	0.324	0.357	9.902	0.080	0.017421491451	0.0004	.	0.0004	0	0.0003	0	0	0.0006	0	0.0002	0.0003752	58	154602	rs149692177	0.0003	0.0003	0.0003	0.0003	0.0062	0.0003	0.0003	0.0046	0.0041	0	0.0002	0.0013	0	3.748e-05	0.0062	0.0003	0.0004	0.0002	0.0003	0.0003	0.0004	0.0003	0.0005	0.0003	0.0002	0.0004	0.0003	9.62e-05	0	0.0003	0.0012	0	0	0	0.0005	0.0009	0	0.297	0.14645	T	0.545	0.09588	T	0.001	0.07471	B	0.004	0.10090	B	0.039543	0.24158	N	0.407957	1	0.08975	N	0.77	0.19370	N	-1.1	0.77336	T	-1.84	0.43149	N	0.207	0.22998	-0.9617	0.38858	T	0.208	0.56717	T	10	0.022665799	0.00572	T	0.017421	0.39111	T	0.080	0.23350	.	.	0.371718192555	0.36778	0.5225928693087791	0.52182	0.550565468982	0.51920	0.488987207413	0.37298	T	0.232892	0.59957	T	-0.35371	0.04499	T	-0.388372	0.34741	T	0.0305371545255184	0.02072	T	0.569643	0.20265	T	0.05374947	0.10217	0.07234307	0.15597	0.05374947	0.10217	0.07234307	0.15597	-4.402	0.29585	T	0.14166376916505227	0.15956	0.076	0.05935	B	.	.	1.444972	0.18651	13.85	0.852437211366744	0.15772	0.10009	0.15631	N	AEFDGBCI	0.071452	0.14224	N	-1.03145122456286	0.07956	0.3714085	-0.961473709549294	0.10658	0.5381762	0.999925226716909	0.46280	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.651492	0.60203	0	.	.	5.09	1.13	0.19758	0.829000	0.27102	0.378000	0.17749	-0.182000	0.10109	0.007000	0.17678	0.055000	0.21918	0.652000	0.32748	0.0:0.7185:0.0:0.2815	9.902	0.40525	531	0.73574	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.04762	3818.11	35	chr10	102066534	.	C	T	3818.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.510;DP=1025;ExcessHet=0.1072;FS=1.292;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=0.784;SOR=0.776	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	19	0	2	0
chr10	102139902	102139902	A	G	exonic	PPRC1	.	nonsynonymous SNV	PPRC1:NM_001288727:exon5:c.A1394G:p.K465R	.	.	415	1104	3	0	0	3	0.00135685	.	.	2809565	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.617	P	0.242	B	0.113	N	1.000	D	0.895	L	1.55	T	-0.978	T	0.046	T	0.174	3.577	18.22	6.03	2.313	1.856	13.944	0.057	.	0.0052	0.00279553	0.0063	0.0005	0.0023	0	0.0113	0.0095	0.0088	0.0012	0.0058149	899	154602	rs61756436	0.0053	0.0053	0.0052	0.0054	0.0052	0.0052	0.0052	0.0051	0.0050	0.0005	0.0029	0.0296	0	0.0106	0.0038	0.0052	0.0060	0.0014	0.0058	0.0058	0.0058	0.0059	0.0080	0.0055	0.0054	0.0075	0.0072	0.0005	0.0033	0.0052	0.0366	0	0.0095	0	0.0080	0.0028	0.0012	0.004	0.65419	D	0.51	0.11299	T	0.483	0.36807	P	0.122	0.32387	B	0.112743	0.19344	N	0.555807	0.524757	0.31926	D	1.935	0.51832	L	1.55	0.29866	T	-0.73	0.20791	N	0.266	0.32481	-0.9777	0.35526	T	0.046	0.19599	T	10	0.0038530827	0.00073	T	.	.	.	0.057	0.16321	.	.	0.228066490088	0.22430	0.14898548926819152	0.14820	0.418664140437	0.42450	0.354502290487	0.18583	T	0.025761	0.44249	T	-0.535209	0.00358	T	-0.530536	0.19234	T	0.0282199987662836	0.01721	T	0.765223	0.64303	T	0.047443926	0.08111	0.06065851	0.11588	0.047443926	0.08110	0.06065851	0.11587	-3.832	0.21283	T	.	.	0.102	0.18080	B	.;.	.;.	3.006349	0.40184	21.1	0.99839227255156981	0.91972	0.89366	0.49787	D	AEFBCI	0.144915	0.26799	N	0.107298536175235	0.46803	2.915139	0.257380969972674	0.53071	3.477898	0.998252898129082	0.36648	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	1.617000	0.36554	4.758000	0.44698	-0.050000	0.17177	0.986000	0.36153	1.000000	0.68203	0.587000	0.31065	1.0:0.0:0.0:0.0	13.944	0.63580	666	0.61362	.;.	.	.	.	.	rs61756436	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1282.98	35	chr10	102139902	.	A	G	1282.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.211e+00;DP=772;ExcessHet=0.0000;FS=3.066;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.11;ReadPosRankSum=0.112;SOR=0.427	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1223	20	0	1	0
chr10	102141009	102141009	C	G	exonic	PPRC1	.	nonsynonymous SNV	PPRC1:NM_001288727:exon5:c.C2501G:p.P834R	.	.	399	1117	5	1	0	7	0.00312361	.	.	3221579	PPRC1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.773	P	0.414	B	0.079	N	1.000	N	0.695	N	1.87	T	-1.083	T	0.043	T	0.057	1.797	11.97	3.42	1.376	0.938	6.604	0.053	0.0148166190639	0.0028	0.000599042	0.0019	0.0007	0.0022	0	0.0015	0.0028	0	0.0002	0.0020116	311	154602	rs17855877	0.0026	0.0026	0.0027	0.0026	0.0113	0.0025	0.0025	0.0091	0.0083	0.0006	0.0019	0.0062	2.519e-05	0.0012	0.0113	0.0029	0.0023	0.0002	0.0022	0.0022	0.0021	0.0023	0.0031	0.0020	0.0019	0.0027	0.0026	0.0007	0.0099	0.0023	0.0046	0	0.0008	0.0102	0.0031	0.0076	0	0.049	0.44694	D	0.049	0.54934	D	0.664	0.41009	P	0.235	0.38432	B	0.078939	0.21014	N	0.450508	0.999304	0.22085	N	1.65	0.42232	L	1.86	0.24285	T	-0.81	0.28703	N	0.185	0.20129	-1.0825	0.06871	T	0.043	0.18618	T	10	0.0033678412	0.00059	T	0.014817	0.35183	T	0.053	0.14996	.	.	0.0675242888579	0.06100	0.2838525284156345	0.28298	0.367992495841	0.38357	0.309089779854	0.11770	T	0.020168	0.47274	T	-0.61838	0.00112	T	-0.664715	0.07952	T	0.0101927539642157	0.00138	T	0.865913	0.56597	D	0.030375214	0.02690	0.041050766	0.04577	0.030375214	0.02690	0.041050766	0.04576	-5.298	0.39923	T	.	.	0.133	0.28693	B	.;.	.;.	3.303862	0.45360	22.1	0.99433683924610039	0.64374	0.62357	0.31757	D	AEFDBHCI	0.127373	0.24470	N	-0.440887174127313	0.24050	1.295878	-0.432299040330095	0.24056	1.315171	0.964473585916462	0.28763	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.31	3.42	0.38259	1.129000	0.30994	1.450000	0.26598	-0.202000	0.08738	0.061000	0.21800	0.029000	0.21193	0.069000	0.16583	0.1383:0.6509:0.0:0.2108	6.604	0.21912	666	0.61362	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2724.98	35	chr10	102141009	.	C	G	2724.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.987e+00;DP=1000;ExcessHet=0.0000;FS=5.198;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=-1.593e+00;SOR=0.460	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1223	20	0	1	0
chr10	102141234	102141234	T	C	exonic	PPRC1	.	nonsynonymous SNV	PPRC1:NM_001288727:exon5:c.T2726C:p.V909A	.	.	393	1072	56	1	0	58	0.0263397	.	.	3202232	PPRC1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.32	T	0.341	B	0.085	B	0.040	N	1.000	N	0.695	N	1.83	T	-1.044	T	0.037	T	0.216	0.118	4.636	4.68	2.038	0.699	10.053	0.047	0.0101490930981	0.0015	0.00119808	0.0029	0.0009	0.0029	0	0	0.0031	0.0066	0.0059	0.002639	408	154602	rs143292683	0.0020	0.0020	0.0019	0.0022	0.0196	0.0020	0.0019	0.0167	0.0156	0.0004	0.0032	0.0087	2.519e-05	9.36e-05	0.0196	0.0016	0.0034	0.0062	0.0021	0.0021	0.0019	0.0023	0.0066	0.0019	0.0018	0.0055	0.0051	0.0004	0	0.0066	0.0066	0	0	0.0102	0.0022	0.0024	0.0048	0.002	0.72154	D	0.374	0.16280	T	0.231	0.30614	B	0.039	0.23607	B	0.040146	0.24091	N	0.298293	0.999961	0.19072	N	1.83	0.48079	L	1.83	0.25018	T	0.02	0.06739	N	0.238	0.27792	-1.0440	0.16118	T	0.037	0.16116	T	10	0.0036765337	0.00067	T	0.010149	0.26346	T	0.047	0.12962	.	.	0.0675242888579	0.06100	0.14303085265315366	0.14226	0.500752496802	0.48480	0.469196081161	0.34570	T	0.013009	0.30165	T	-0.521682	0.00430	T	-0.519524	0.20342	T	0.0373172031698167	0.03211	T	0.783222	0.42989	T	0.058052696	0.11632	0.085910715	0.19868	0.058052696	0.11631	0.085910715	0.19868	-2.879	0.08935	T	.	.	0.188	0.40441	B	.;.	.;.	2.026997	0.25760	16.88	0.86320634306687338	0.16458	0.29377	0.23805	N	AEFBCI	0.053537	0.09655	N	-0.49094756658609	0.22378	1.19442	-0.420153200462829	0.24406	1.336295	0.99382276453179	0.33371	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.68	4.68	0.58319	0.965000	0.28916	4.582000	0.43923	0.665000	0.62972	0.035000	0.20724	1.000000	0.68203	0.012000	0.09680	0.0:0.0:0.1692:0.8308	10.053	0.41398	666	0.61362	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	7316.66	150	chr10	102141234	.	T	C	7316.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.99;DP=1074;ExcessHet=0.0000;FS=3.972;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=21.46;ReadPosRankSum=-1.089e+00;SOR=0.495	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1223	19	1	1	0
chr10	102144271	102144271	C	T	exonic	PPRC1	.	nonsynonymous SNV	PPRC1:NM_001288727:exon7:c.C3572T:p.P1191L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.001	B	0.001	B	0.156	N	1.000	D	0	N	2.01	T	-1.081	T	0.030	T	0.144	2.909	15.69	-0.522	0.003	-0.523	4.213	0.043	0.012156789572	.	.	1.649e-05	0	0	0.0001	0	1.5e-05	0	0	1.29e-05	2	154602	rs771146169	1.368e-05	1.368e-05	1.361e-05	1.375e-05	0.0001	8.94e-06	7.26e-06	3.982e-05	2.373e-05	0.0001	0	0	2.519e-05	0	0	1.079e-05	1.656e-05	2.319e-05	2.628e-05	2.626e-05	3.853e-05	1.345e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.94e-05	0	0.0002	0.388	0.10909	T	0.087	0.40747	T	0.001	0.07471	B	0.001	0.04355	B	0.156418	0.17800	N	0.593417	0.959138	0.51968	D	0.035	0.08059	N	2.0	0.28836	T	-0.46	0.14978	N	0.22	0.27077	-1.0811	0.07137	T	0.030	0.12935	T	10	0.04252681	0.03010	T	0.012157	0.30482	T	0.043	0.11576	0.208	0.12497	0.043077524339	0.03247	0.08833544356075104	0.08766	0.0854666264456	0.09655	0.374650776386	0.21495	T	0.020069	0.28446	T	-0.412661	0.01909	T	-0.661407	0.08172	T	0.12467011064291	0.14881	T	0.779622	0.43772	T	0.030654108	0.02766	0.02931695	0.01257	0.030654108	0.02766	0.02931695	0.01257	-4.445	0.30162	T	.	.	0.081	0.08081	B	.;.;.	.;.;.	2.255402	0.28814	17.92	0.99032225798144058	0.50830	0.17978	0.20068	N	AEFDBCI	0.020545	0.00823	N	-0.882855447133515	0.11250	0.5419089	-0.755301139707255	0.15592	0.8208208	0.998454143327198	0.36996	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.25	-0.522	0.11332	-0.508000	0.06426	-0.007000	0.13116	-0.242000	0.07441	0.389000	0.26079	0.000000	0.08366	0.941000	0.48210	0.2517:0.2442:0.0:0.5041	4.213	0.09979	666	0.61362	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1042.98	33	chr10	102144271	.	C	T	1042.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.192;DP=746;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.82;ReadPosRankSum=0.841;SOR=0.586	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1122	20	0	1	0
chr10	102230897	102230897	A	G	exonic	PITX3	.	nonsynonymous SNV	PITX3:NM_005029:exon4:c.T526C:p.S176P,	Anterior segment dysgenesis 1, multiple subtypes, Autosomal dominant;Cataract 11, multiple types, Autosomal dominant;Cataract 11, syndromic, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.995	D	0.969	D	0.000	D	1.000	D	1.805	L	-2.66	D	0.667	D	0.791	D	0.9	3.930	20.0	4.46	1.642	9.125	13.755	0.869	0.633550451579	.	.	3.471e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs765679161	1.439e-05	1.436e-05	6.818e-06	2.204e-05	0.0002	9.25e-06	7.85e-06	8.908e-05	7.071e-05	0	0	0	0	0	0	7.199e-06	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.126	0.35205	T	0.995	0.67487	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.37	0.34214	L	-2.66	0.90272	D	-3.26	0.65397	D	0.898	0.89800	0.667	0.92755	D	0.791	0.92920	D	10	0.8762698	0.86918	D	0.63355	0.96859	D	0.869	0.96059	0.375	0.38830	0.931395963565	0.93069	0.67997391105063	0.67936	1.66538413369	0.89783	0.858225107193	0.90848	D	0.508002	0.82548	D	0.281904	0.81477	D	0.371709	0.91136	D	0.972467660903931	0.69709	D	0.911709	0.68653	D	0.81477904	0.84870	0.85822004	0.92057	0.81477904	0.84871	0.85822004	0.92058	-4.052	0.24579	T	.	.	0.309	0.53717	B	.;.	.;.	5.201275	0.87252	29.2	0.99624624975997667	0.75655	0.78253	0.38580	D	ALL	0.965920	0.98829	D	0.6403003852078	0.75742	6.360104	0.606902652685894	0.75438	6.310902	1.0	0.98316	0.437478	0.07067	0	0.606814	0.50340	0	0.503968	0.08637	0	0.603991	0.37454	0	.	.	4.46	4.46	0.53567	9.155000	0.93856	11.007000	0.84821	0.629000	0.51854	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	13.755	0.62418	417	0.81662	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2095.98	47	chr10	102230897	.	A	G	2095.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.090e-01;DP=899;ExcessHet=0.0000;FS=0.607;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.70;ReadPosRankSum=-7.810e-01;SOR=0.778	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr10	102381220	102381220	C	T	exonic	GBF1	.	nonsynonymous SNV	GBF1:NM_001377139:exon37:c.C4970T:p.P1657L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.196	B	0.018	B	0.291	N	0.996	D	0.55	N	2.81	T	-0.991	T	0.017	T	0.289	0.189	5.015	3.68	1.627	0.569	8.812	0.030	0.00889664357715	.	0.000199681	5.793e-05	0	0	0.0003	0	3.015e-05	0	0.0001	5.17e-05	8	154602	rs201007711	4.173e-05	4.173e-05	4.629e-05	3.713e-05	0.0003	3.311e-05	3.001e-05	0.0001	0.0001	0	0	0	0.0003	0	0	3.957e-05	3.312e-05	5.797e-05	5.91e-05	5.906e-05	6.424e-05	5.372e-05	0.0006	3.075e-05	2.209e-05	0.0002	8.398e-05	2.406e-05	0	0	0	0.0006	0	0	7.351e-05	0	0	0.02	0.49613	D	0.242	0.24264	T	0.196	0.29532	B	0.018	0.18489	B	0.291345	0.14763	N	0.702507	0.996146	0.43041	D	0.895	0.22405	L	2.81	0.10975	T	-1.3	0.32590	N	0.292	0.33030	-0.9905	0.32475	T	0.017	0.07045	T	10	0.042312562	0.02969	T	0.008897	0.23463	T	0.030	0.07022	.	.	0.350307294319	0.34646	0.30331666000745344	0.30244	0.104754393679	0.11852	0.399553239346	0.25007	T	0.03718	0.24379	T	-0.425968	0.01568	T	-0.540782	0.18219	T	0.057075843366282	0.06700	T	0.79922	0.44465	T	0.048789892	0.08559	0.047204938	0.06748	0.048789892	0.08559	0.047204938	0.06747	-3.93	0.22753	T	.	.	0.053	0.00248	B	.	.	2.290877	0.29305	18.08	0.3382507595790965	0.02036	0.17389	0.19816	N	AEFBI	0.087657	0.17773	N	-0.532150149068177	0.21046	1.114097	-0.453208652427084	0.23458	1.279372	0.00971026040171657	0.11900	0.744818	0.98587	0	0.702456	0.74545	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.65	3.68	0.41359	0.593000	0.23700	2.184000	0.31153	0.599000	0.40250	0.007000	0.17678	0.995000	0.32472	0.057000	0.15750	0.1584:0.759:0.0:0.0826	8.812	0.34132	722	0.55239	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	714.98	41	chr10	102381220	.	C	T	714.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=763;ExcessHet=0.0000;FS=4.010;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.75;ReadPosRankSum=-4.860e-01;SOR=1.414	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1170	20	0	1	0
chr10	102423499	102423499	C	T	exonic	CUEDC2	.	nonsynonymous SNV	CUEDC2:NM_024040:exon9:c.G791A:p.R264Q,	.	.	421	1100	0	1	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.984	D	0.484	P	0.000	D	0.991	D	1.245	L	-2.21	D	-0.005	T	0.495	T	0.125	3.793	19.26	4.98	2.326	5.583	7.285	0.319	0.130593983463	.	.	2.484e-05	0.0002	0	0	0	1.498e-05	0	0	3.23e-05	5	154602	rs372005158	2.531e-05	2.531e-05	2.995e-05	2.063e-05	3.147e-05	1.868e-05	1.631e-05	2.285e-05	2.022e-05	0	0	0	0	0	0	3.147e-05	3.311e-05	0	2.629e-05	2.626e-05	3.854e-05	1.345e-05	9.654e-05	8.14e-06	5.14e-06	3.25e-05	1.915e-05	9.654e-05	0	0	0	0	0	0	0	0	0	0.01	0.56456	D	0.063	0.45110	T	0.984	0.60733	D	0.484	0.47189	P	0.000001	0.84330	D	0.052805	0.991051	0.41297	D	1.7	0.43825	L	-2.21	0.86963	D	-1.27	0.31981	N	0.113	0.10056	-0.0050	0.82153	T	0.495	0.80883	T	10	0.21926197	0.38591	T	0.130594	0.81277	D	0.319	0.64112	.	.	0.881788646564	0.88063	0.7166744339891384	0.71610	0.537878012552	0.51066	0.394310623407	0.24275	T	0.042082	0.26068	T	-0.181457	0.23519	T	-0.261758	0.48649	T	0.433874517679214	0.30203	T	0.873313	0.58144	D	0.29809976	0.52733	0.13385022	0.32088	0.29809976	0.52733	0.13385022	0.32087	-4.208	0.26867	T	.	.	0.117	0.23605	B	.	.	5.213668	0.87485	29.3	0.9991484939135612	0.98309	0.73898	0.36146	D	AEFGBCI	0.409641	0.48083	N	0.457975881461671	0.64657	4.725258	0.498386496008559	0.67883	5.144015	0.999999979183089	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.98	4.98	0.65679	5.594000	0.67248	7.610000	0.61877	0.520000	0.23804	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.8104:0.0:0.1896	7.285	0.25509	741	0.52966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2893.98	36	chr10	102423499	.	C	T	2893.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=939;ExcessHet=0.0000;FS=9.804;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=0.164;SOR=0.336	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,120,1483	20	0	1	0
chr10	102424295	102424295	G	A	exonic	CUEDC2	.	nonsynonymous SNV	CUEDC2:NM_024040:exon5:c.C380T:p.S127L,	.	.	419	1092	10	1	0	12	0.00546448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.001	B	0.0	B	0.806	N	1.000	N	0.345	N	-2.4	D	-0.554	T	0.475	T	0.107	-0.122	3.401	4.12	1.253	3.368	9.468	0.206	0.0385002305528	0.0014	0.000798722	0.0016	0.0005	0.0010	0	0	0.0024	0.0022	0.0007	0.0015782	244	154602	rs200550064	0.0017	0.0017	0.0017	0.0018	0.0066	0.0017	0.0017	0.0049	0.0044	0.0004	0.0018	0.0045	2.519e-05	0.0001	0.0066	0.0019	0.0023	0.0006	0.0013	0.0013	0.0016	0.0010	0.0021	0.0012	0.0011	0.0016	0.0015	0.0005	0	0.0021	0.0037	0	0	0	0.0018	0.0033	0.0010	0.169	0.22920	T	0.34	0.18018	T	0.001	0.07471	B	0.0	0.01387	B	0.806428	0.06800	N	1.086080	0.999999	0.08975	N	0.345	0.11182	N	-2.4	0.88455	D	-1.0	0.26422	N	0.135	0.13198	-0.5537	0.66646	T	0.475	0.79872	T	10	0.005452156	0.00120	T	0.038	0.58257	D	0.206	0.49396	.	.	0.896756161898	0.89573	0.30278921561647426	0.30191	0.369424539818	0.38471	0.366634428501	0.20348	T	0.027536	0.20144	T	-0.392578	0.02589	T	-0.337207	0.40661	T	0.0211851797004083	0.00820	T	0.684232	0.29249	T	0.039601997	0.05498	0.051324703	0.08236	0.039601997	0.05498	0.051324703	0.08236	-4.227	0.27141	T	.	.	0.065	0.02038	B	.	.	3.068477	0.41238	21.3	0.83566567893211086	0.14796	0.72835	0.35638	D	AEFGBCI	0.185171	0.31250	N	-0.416154188473115	0.24902	1.347964	-0.281254930990606	0.28715	1.603237	0.99984333186954	0.43971	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.03	4.12	0.47504	3.692000	0.54460	6.904000	0.56879	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.007000	0.07825	0.0992:0.0:0.9008:0.0	9.468	0.37987	740	0.53092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2912.98	36	chr10	102424295	.	G	A	2912.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=964;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.49;ReadPosRankSum=-1.802e+00;SOR=0.666	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,120,1483	20	0	1	0
chr10	102451044	102451067	GGCGGCGGCCAGACGCCCTGTTTG	-	exonic	C10orf95	.	nonframeshift deletion	C10orf95:NM_001363580:exon2:c.27_50del:p.K10_P17del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.265e-05	0	0	0	0	2.178e-05	0	0	3.84e-05	1	26028	rs769127436	2.155e-05	2.805e-05	2.252e-05	2.053e-05	0.0002	1.499e-05	1.274e-05	1.324e-05	1.076e-05	3.904e-05	0	0	0	3.048e-05	0.0002	2.027e-05	4.113e-05	2.474e-05	2.628e-05	2.627e-05	5.138e-05	0	5.881e-05	8.14e-06	5.14e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1031.94	33	chr10	102451043	.	CGGCGGCGGCCAGACGCCCTGTTTG	C	1031.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.738e+00;DP=796;ExcessHet=0.0000;FS=1.237;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=24.00;ReadPosRankSum=-4.350e-01;SOR=0.998	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr10	102813002	102813002	G	A	exonic	WBP1L	.	nonsynonymous SNV	WBP1L:NM_001083913:exon4:c.G763A:p.D255N	.	.	.	.	.	.	.	.	.	.	.	3348979	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.685	P	0.093	B	0.000	N	1.000	D	1.87	L	1.44	T	-1.051	T	0.070	T	0.04	2.296	13.63	5.15	1.579	7.750	15.205	0.127	0.0177489049985	0.0002	.	3.327e-05	0	0	0	0	6.066e-05	0	0	4.53e-05	7	154602	rs139434993	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0	0	0	2.519e-05	1.89e-05	0	0.0003	0.0003	1.159e-05	0.0001	0.0001	0.0001	0.0001	0.0003	8.666e-05	7.258e-05	0.0002	0.0002	2.413e-05	0	0	0	0	0	0	0.0003	0	0	0.025	0.47320	D	0.071	0.43531	T	0.685	0.41537	P	0.093	0.30104	B	0.000000	0.84330	N	0.087086	1	0.81001	D	1.735	0.44892	L	1.42	0.33189	T	-1.34	0.33401	N	0.201	0.23253	-1.0507	0.14203	T	0.070	0.28740	T	10	0.1354227	0.25769	T	0.017749	0.39570	T	0.127	0.34888	.	.	0.138757226776	0.13463	0.12217306483157901	0.12144	0.364984710345	0.38103	0.544489443302	0.45080	T	0.008239	0.07575	T	-0.367852	0.03704	T	-0.580267	0.14520	T	0.256663335096407	0.23168	T	0.724828	0.33863	T	0.21942052	0.44473	0.13514057	0.32364	0.21942052	0.44473	0.13514057	0.32363	-4.722	0.33669	T	.	.	0.086	0.11076	B	.;.	.;.	3.215437	0.43783	21.8	0.99300355246683392	0.58613	0.99399	0.95529	D	AEFDGBIJ	0.922049	0.89645	D	0.169355665804497	0.49730	3.170254	0.236510357496966	0.51885	3.367361	0.999999999999779	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	6.05	5.15	0.70287	7.875000	0.85599	9.798000	0.81680	0.670000	0.69193	1.000000	0.71638	1.000000	0.68203	0.163000	0.20749	0.067:0.0:0.933:0.0	15.205	0.72860	572	0.70300	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2033.98	35	chr10	102813002	.	G	A	2033.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.325;DP=910;ExcessHet=0.0000;FS=2.505;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=0.487;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1219	20	0	1	0
chr10	102837163	102837163	G	A	exonic	CYP17A1	.	nonsynonymous SNV	CYP17A1:NM_000102:exon1:c.C199T:p.R67C,	17-alpha-hydroxylase/17,20-lyase deficiency, Autosomal recessive;17,20-lyase deficiency, isolated, Autosomal recessive	.	0	1517	5	0	0	5	0.00164528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.978	D	0.347	N	1.000	N	2.265	M	-1.37	T	-0.292	T	0.580	D	0.485	0.990	9.040	4.22	2.666	1.236	2.903	0.347	0.378835654977	.	.	4.118e-05	0	0	0.0001	0	4.495e-05	0	6.056e-05	3.23e-05	5	154602	rs750853745	2.155e-05	2.669e-05	1.525e-05	2.789e-05	0.0002	1.544e-05	1.346e-05	1.658e-05	1.409e-05	0	0	0	5.057e-05	0	0.0002	2.383e-05	1.677e-05	1.166e-05	6.573e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.138	0.25873	T	0.164	0.31026	T	1.0	0.90584	D	0.978	0.74104	D	0.347406	0.13869	N	0.732045	0.999884	0.19853	N	3.365	0.91266	M	-1.37	0.80214	T	-3.14	0.64019	D	0.49	0.52386	-0.2917	0.75218	T	0.580	0.84876	D	10	0.5608845	0.64780	D	0.378836	0.92923	D	0.347	0.66863	0.668	0.80602	0.894570740637	0.89352	0.709211621221748	0.70863	1.10128899491	0.77738	0.257579743862	0.04607	T	0.823043	0.95694	D	-0.115635	0.33841	T	-0.178177	0.56691	T	0.528137624263763	0.33665	D	0.944805	0.82184	D	0.46140015	0.64758	0.2960471	0.55637	0.46140015	0.64758	0.2960471	0.55636	-6.331	0.48967	T	.	.	0.319	0.54463	B	.;.;.;.;.	.;.;.;.;.	3.002516	0.40121	21.1	0.95846453065884019	0.27979	0.08952	0.14801	N	AEFDBI	0.174789	0.30194	N	0.112572362844948	0.47048	2.936105	-0.0776786690776176	0.36315	2.111806	0.00213557783687797	0.09181	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.36	4.22	0.49153	1.587000	0.36232	6.391000	0.55559	0.674000	0.70861	0.005000	0.17040	1.000000	0.68203	0.015000	0.10482	0.1801:0.0:0.547:0.273	2.903	0.05361	574	0.70151	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1349.98	35	chr10	102837163	.	G	A	1349.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=830;ExcessHet=0.0000;FS=1.439;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.89;ReadPosRankSum=0.470;SOR=0.603	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1060	20	0	1	0
chr10	103246532	103246532	G	C	exonic	RPEL1	.	nonsynonymous SNV	RPEL1:NM_001143909:exon1:c.G536C:p.G179A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00314887631417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.43159	T	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	.	.	.	2.195	0.61839	M	.	.	.	.	.	.	0.363	0.40465	.	.	.	.	.	.	.	0.3433023	0.51345	T	0.003149	0.06876	T	.	.	.	.	0.0297737177859	0.01360	0.696713911689055	0.69612	0.839323799997	0.67967	.	.	.	0.120812	0.44333	T	0.0407687	0.57146	T	-0.179215	0.56595	T	.	.	.	0.947805	0.79866	D	0.041269876	0.06047	0.119708724	0.28892	0.041269876	0.06047	0.119708724	0.28891	-6.16	0.47598	T	.	.	0.158	0.34992	B	.	.	1.981465	0.25175	16.67	0.71420996579269658	0.09623	0.45089	0.27461	N	AEFDGHCI	0.118899	0.23230	N	.	.	.	.	.	.	0.999779789001935	0.42865	0.13384	0.03154	2	0.27691	0.05143	1	0.184467	0.04490	2	0.156572	0.04068	2	.	.	2.13	-1.99	0.07047	6.400000	0.73175	3.324000	0.37570	0.171000	0.17763	1.000000	0.71638	1.000000	0.68203	0.068000	0.16518	0.2977:0.2087:0.4936:0.0	3.634	0.07683	167	0.93508	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2534.98	40	chr10	103246532	.	G	C	2534.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.680;DP=1182;ExcessHet=0.0000;FS=2.453;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.74;ReadPosRankSum=0.847;SOR=0.887	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	20	0	1	0
chr10	103379720	103379720	G	A	exonic	TAF5	.	nonsynonymous SNV	TAF5:NM_006951:exon4:c.G1226A:p.S409N	.	.	426	1064	30	2	0	34	0.0157262	.	.	806380	not_provided	MedGen:C3661900	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0.43	T	0.004	B	0.004	B	0.000	D	1.000	D	0	N	0.64	T	-1.052	T	0.056	T	0.071	1.185	9.817	5.64	2.645	4.689	11.099	0.048	.	0.0056	0.00399361	0.0056	0.0011	0.0016	0	0.0003	0.0062	0.0055	0.0140	0.0057373	887	154602	rs142451092	0.0076	0.0076	0.0075	0.0078	0.0134	0.0075	0.0074	0.0121	0.0119	0.0009	0.0017	0.0087	2.524e-05	0.0004	0.0134	0.0083	0.0069	0.0128	0.0042	0.0042	0.0042	0.0043	0.0131	0.0040	0.0039	0.0105	0.0095	0.0013	0	0.0021	0.0113	0	0.0002	0	0.0065	0.0062	0.0131	0.422	0.09776	T	0.293	0.20811	T	0.001	0.07471	B	0.001	0.04355	B	0.000000	0.84330	D	0.036225	0.999757	0.48800	D	0.44	0.12706	N	0.64	0.52867	T	-1.11	0.28703	N	0.176	0.18920	-1.0525	0.13709	T	0.056	0.23413	T	10	0.0035065114	0.00063	T	.	.	.	0.048	0.13305	.	.	0.529862097387	0.52634	0.3373209658794253	0.33645	0.713057731645	0.61797	0.604621291161	0.53557	T	0.013891	0.11931	T	-0.560698	0.00251	T	-0.567149	0.15713	T	0.0121472111995332	0.00194	T	0.79622	0.43953	T	0.13390729	0.31129	0.15192956	0.35767	0.13390729	0.31129	0.15192956	0.35766	-4.102	0.25320	T	.	.	0.094	0.14339	B	.	.	2.200970	0.28072	17.67	0.89981633994300625	0.19274	0.96506	0.69479	D	AEFBI	0.528536	0.55002	D	-0.143862010913901	0.35496	2.03962	0.105540337948869	0.44831	2.757352	0.99482769110017	0.33818	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.64	5.64	0.86480	4.786000	0.62117	5.017000	0.46715	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.949000	0.49496	0.1431:0.0:0.8569:0.0	11.099	0.47386	242	0.90534	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1790.11	34	chr10	103379720	.	G	A	1790.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.900e-02;DP=803;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=0.688;SOR=0.673	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1174	19	0	2	0
chr10	103388152	103388152	A	G	exonic	TAF5	.	nonsynonymous SNV	TAF5:NM_139052:exon10:c.A2167G:p.T723A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.996	D	0.99	D	0.000	D	1.000	D	2.835	M	-1.37	T	0.582	D	0.707	D	0.763	3.706	18.83	5.4	2.055	8.946	15.431	0.841	0.153609340134	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1431240574	6.841e-07	6.84e-07	0	1.375e-06	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.007	0.69154	D	0.994	0.66517	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.845	0.82663	M	-1.37	0.80214	T	-3.15	0.64132	D	0.688	0.69387	0.582	0.91665	D	0.707	0.89933	D	10	0.83080846	0.82244	D	0.153609	0.83485	D	0.841	0.95026	.	.	0.821531148444	0.81984	0.6559787097603832	0.65533	1.47671297988	0.86635	0.764473736286	0.76596	T	0.191236	0.54601	T	0.12907	0.67269	D	0.129151	0.78836	D	0.908570230007172	0.56319	D	0.956971	0.83666	D	0.7407828	0.80337	0.5462012	0.73768	0.7407828	0.80339	0.5462012	0.73768	-9.916	0.73407	D	.	.	0.471	0.63224	A	.	.	4.496758	0.70292	25.5	0.99777850043292171	0.86519	0.97136	0.72900	D	AEFGBCI	0.856461	0.77370	D	0.861716619515119	0.89765	10.10797	0.813717239527016	0.90731	10.54226	0.999999999973265	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.4	5.4	0.77957	8.931000	0.92411	11.280000	0.91702	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	15.431	0.74828	255	0.89985	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1388.98	40	chr10	103388152	.	A	G	1388.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.185;DP=864;ExcessHet=0.0000;FS=2.558;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.36;ReadPosRankSum=-2.230e-01;SOR=0.978	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1089	20	0	1	0
chr10	103424999	103424999	G	A	exonic	PDCD11	.	nonsynonymous SNV	PDCD11:NM_014976:exon20:c.G2779A:p.E927K,	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	0.002	B	0.001	B	0.178	N	1.000	N	1.04	L	2.99	T	-0.949	T	0.015	T	0.125	0.681	7.640	2.53	0.777	0.883	1.521	0.075	0.00284496675166	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs202170736	8.893e-06	8.893e-06	6.806e-06	1.1e-05	2.987e-05	4.96e-06	3.82e-06	3.1e-06	2.24e-06	2.987e-05	2.236e-05	0	2.519e-05	0	0	7.195e-06	1.656e-05	1.159e-05	1.313e-05	1.312e-05	0	2.685e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	0	0	0.0002	0.918	0.02321	T	0.454	0.12812	T	0.002	0.09854	B	0.001	0.04355	B	0.177698	0.17190	N	0.636690	1	0.08975	N	0.205	0.09354	N	2.99	0.09262	T	0.51	0.02898	N	0.103	0.08646	-0.9488	0.41177	T	0.015	0.05801	T	10	0.021432728	0.00512	T	0.002845	0.05956	T	0.075	0.21907	.	.	0.261217442401	0.25729	0.16366203810263458	0.16286	0.228588105489	0.25409	0.300066292286	0.10411	T	0.00371	0.03121	T	-0.461425	0.00963	T	-0.718434	0.04872	T	0.0328316354430965	0.02443	T	0.662034	0.27102	T	0.019013882	0.00426	0.030189864	0.01444	0.019013882	0.00426	0.030189864	0.01444	-2.267	0.04378	T	.	.	0.067	0.02518	B	.;.	.;.	1.648571	0.21035	15.02	0.91882057533179429	0.21199	0.09750	0.15435	N	AEFDGBI	0.032646	0.03727	N	-0.816428013894263	0.12891	0.6313294	-0.743349326858115	0.15885	0.8377138	0.922850672738012	0.26723	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.74	2.53	0.29594	0.902000	0.28088	1.635000	0.27760	0.676000	0.76740	0.002000	0.15269	0.461000	0.25002	0.697000	0.34049	0.2213:0.2726:0.3733:0.1328	1.521	0.02364	218	0.91525	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1986.98	35	chr10	103424999	.	G	A	1986.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.04;DP=869;ExcessHet=0.0000;FS=2.092;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=-1.101e+00;SOR=0.918	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1266	20	0	1	0
chr10	103447301	103447301	G	A	exonic	CALHM2	.	nonsynonymous SNV	CALHM2:NM_015916:exon4:c.C823T:p.R275W,	.	.	420	1087	14	1	0	16	0.00730594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.998	D	0.764	P	0.000	D	1.000	D	1.78	L	2.16	T	-1.066	T	0.085	T	0.577	3.573	18.21	3.27	1.244	1.897	13.169	0.135	.	7.7e-05	0.00199681	0.0010	0.0002	0.0002	0	0	0.0001	0	0.0068	0.0008732	135	154602	rs370784297	0.0005	0.0005	0.0003	0.0007	0.0066	0.0005	0.0005	0.0061	0.0059	5.974e-05	0.0002	0	5.038e-05	0	0.0014	9.892e-05	0.0005	0.0066	0.0003	0.0003	0.0003	0.0004	0.0085	0.0003	0.0002	0.0064	0.0057	7.214e-05	0	0.0001	0	0	0	0	8.82e-05	0.0005	0.0085	0.007	0.59928	D	0.008	0.67890	D	0.998	0.73220	D	0.764	0.56591	P	0.000022	0.55875	D	0.113847	0.993703	0.42026	D	0.695	0.17993	N	2.16	0.19166	T	-0.88	0.23808	N	0.351	0.43029	-1.0655	0.10432	T	0.085	0.33099	T	10	0.0074653625	0.00170	T	.	.	.	0.135	0.36572	.	.	0.460969658426	0.45724	0.6293661581179711	0.62870	0.784449382396	0.65439	0.523022949696	0.42051	T	0.024396	0.18443	T	-0.427882	0.01527	T	-0.384231	0.35227	T	0.0410869378643372	0.03887	T	0.933507	0.75104	D	0.4605279	0.64704	0.1947734	0.43118	0.4605279	0.64704	0.1947734	0.43117	-5.493	0.41803	T	.	.	0.204	0.43503	B	.;.	.;.	4.596652	0.72755	25.9	0.99915148297823286	0.98309	0.83633	0.42737	D	AEFDGBCI	0.500760	0.53388	D	0.363649136374822	0.59465	4.126003	0.339156152091676	0.57857	3.953194	0.999999925351106	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.489635	0.07774	0	0.636168	0.56350	0	.	.	5.37	3.27	0.36580	1.936000	0.39812	4.803000	0.44983	0.676000	0.76740	0.988000	0.36536	1.000000	0.68203	0.671000	0.33280	0.0:0.0:0.5603:0.4396	13.169	0.59009	232	0.90957	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2004.98	42	chr10	103447301	.	G	A	2004.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.881;DP=924;ExcessHet=0.0000;FS=6.327;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.42;ReadPosRankSum=-8.730e-01;SOR=0.361	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr10	103458592	103458592	C	T	exonic	CALHM1	.	nonsynonymous SNV	CALHM1:NM_001001412:exon1:c.G160A:p.A54T,	.	.	.	.	.	.	.	.	.	.	.	3424423	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	0.489	P	0.033	B	0.025	N	1.000	N	0.69	N	2.3	T	-1.010	T	0.014	T	0.184	1.051	9.293	2.71	0.302	1.454	5.534	0.028	0.00754379677224	0.0002	0.000399361	0.0002	9.748e-05	0.0002	0.0002	0	0.0003	0	0	0.0001552	24	154602	rs140666030	9.442e-05	9.44e-05	0.0001	8.802e-05	0.0002	8.136e-05	7.652e-05	6.784e-05	6.283e-05	2.987e-05	0.0001	0.0008	5.038e-05	0	0.0002	8.183e-05	0.0002	4.637e-05	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	9.231e-05	0.0001	9.898e-05	0	0	0.0002	0.0012	0.0002	0	0	0.0002	0	0.0004	0.009	0.57480	D	0.05	0.48080	T	0.489	0.36925	P	0.033	0.22329	B	0.025103	0.26146	N	0.452396	1	0.08975	N	0.69	0.16971	N	2.3	0.16953	T	-0.2	0.10136	N	0.102	0.08506	-1.0096	0.27043	T	0.014	0.05753	T	10	0.015043795	0.00316	T	0.007544	0.20006	T	0.028	0.06331	.	.	0.0401082797425	0.02173	0.5772696737336218	0.57655	0.162474102853	0.18328	0.354660302401	0.18606	T	0.019118	0.15291	T	-0.445364	0.01203	T	-0.613082	0.11735	T	0.0203414536268486	0.00734	T	0.680832	0.28956	T	0.046775248	0.07884	0.07383741	0.16088	0.046775248	0.07884	0.07383741	0.16088	-3.774	0.20417	T	0.125773117771601	0.12574	0.101	0.17402	B	.	.	1.755477	0.22329	15.58	0.97003330117518338	0.31953	0.16047	0.19206	N	AEFDBCI	0.083459	0.16908	N	-0.812883290798814	0.12981	0.6363617	-0.816156378132755	0.14104	0.7352377	0.999503334169801	0.40062	0.615755	0.39536	0	0.588066	0.40923	0	0.618376	0.41669	0	0.562822	0.20929	0	.	.	5.56	2.71	0.31092	1.500000	0.35290	0.386000	0.17834	-0.266000	0.06809	0.458000	0.26628	0.000000	0.08366	0.009000	0.08673	0.0:0.4786:0.2913:0.2301	5.534	0.16292	268	0.89479	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1015.98	90	chr10	103458592	.	C	T	1015.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.80;DP=1961;ExcessHet=0.0000;FS=13.412;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=0.947;SOR=1.170	GT:AD:DP:GQ:PL	0/0:94,0:94:99:0,120,1800	20	0	1	0
chr10	103473561	103473561	C	A	exonic	CALHM3	.	nonsynonymous SNV	CALHM3:NM_001129742:exon3:c.G687T:p.E229D,	.	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.963	D	0.739	P	0.000	D	0.993	D	2.045	M	2.15	T	-1.092	T	0.082	T	0.483	4.429	23.5	5.67	2.677	0.645	7.418	0.160	0.0200583200693	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs764564522	6.791e-05	6.498e-05	7.053e-05	6.522e-05	0.0019	5.672e-05	5.268e-05	0.0011	0.0008	3.165e-05	0.0002	0	0	0	0.0019	4.912e-05	0.0002	0.0002	9.188e-05	9.186e-05	0.0001	6.71e-05	0.0004	5.521e-05	4.36e-05	7.907e-05	5.993e-05	0	0	6.53e-05	0	0	0	0.0034	0.0001	0	0.0004	0.014	0.53172	D	0.021	0.58089	D	.	.	.	.	.	.	0.000005	0.62929	D	0.061154	0.993476	0.41951	D	2.075	0.57047	M	2.15	0.19311	T	-2.31	0.51319	N	0.651	0.66187	-1.0916	0.05270	T	0.082	0.32411	T	10	0.396944	0.55294	T	0.020058	0.42574	T	0.160	0.41473	0.366	0.37361	0.134241683229	0.13084	0.46104046279709593	0.46022	.	.	0.79662168026	0.81449	T	0.041443	0.25860	T	-0.307966	0.07928	T	-0.410848	0.32128	T	0.348093599081039	0.26944	T	0.853415	0.53896	D	0.27270666	0.50339	0.29651344	0.55683	0.27270666	0.50339	0.29651344	0.55683	-4.862	0.35305	T	.	.	0.424	0.60884	A	.	.	3.777977	0.54301	23.5	0.99812589362195903	0.89620	0.90466	0.51665	D	AEFDBIJ	0.386955	0.46712	N	0.494920238967499	0.66793	4.996224	0.511576269708431	0.68767	5.265843	0.999998193613234	0.74766	0.514905	0.20481	0	0.491513	0.07743	0	0.603688	0.36954	0	0.542086	0.14980	0	.	.	5.67	5.67	0.87673	0.695000	0.25205	3.191000	0.36704	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.789000	0.37270	0.0:0.8005:0.0:0.1995	7.418	0.26225	239	0.90673	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2066.98	38	chr10	103473561	.	C	A	2066.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.974e+00;DP=988;ExcessHet=0.0000;FS=1.889;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.09;ReadPosRankSum=-1.560e-01;SOR=0.732	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1575	20	0	1	0
chr10	103602846	103602846	C	T	exonic	SH3PXD2A	.	nonsynonymous SNV	SH3PXD2A:NM_001365079:exon9:c.G2015A:p.G672E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.98	T	1.0	D	1.0	D	0.000	D	1.000	D	1.59	L	0.12	T	-0.619	T	0.334	T	0.856	2.592	14.63	5.07	2.373	7.696	18.514	0.309	0.0680676990307	.	0.000399361	0.0003	0	0	0	0	0	0	0.0022	0.0002523	39	154602	rs531825547	0.0001	0.0001	7.759e-05	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	0	0	0	0	0	0.0002	0	0.0001	0.0022	7.877e-05	7.874e-05	6.423e-05	9.398e-05	0.0025	4.493e-05	3.509e-05	0.0014	0.0011	0	0	0	0	0	0	0	0	0	0.0025	0.003	0.68238	D	0.066	0.44501	T	1.0	0.90584	D	0.999	0.97372	D	0.000002	0.62929	D	0.104145	0.999984	0.81001	D	1.995	0.54099	M	-0.06	0.63568	T	-1.62	0.38924	N	0.639	0.65930	-0.6189	0.64034	T	0.334	0.70092	T	10	0.053387642	0.05521	T	0.068068	0.70348	D	0.309	0.63055	0.21	0.12781	0.76236827946	0.76020	0.260344945684699	0.25948	1.26890067579	0.82231	0.751176536083	0.74620	T	0.047789	0.27827	T	-0.0689483	0.41495	T	0.122017	0.78369	D	0.251189642343874	0.22926	T	0.951905	0.81545	D	0.34354958	0.56560	0.4569093	0.68437	0.34354958	0.56560	0.4569093	0.68437	-4.305	0.28246	T	.	.	0.309	0.58346	B	.;.	.;.	3.992171	0.58767	24.0	0.99584069888829507	0.73218	0.97783	0.77101	D	AEFGBCI	0.904012	0.85379	D	0.251135197924912	0.53694	3.537309	0.180101385052429	0.48756	3.087453	0.999999999999987	0.74766	0.646311	0.45356	0	0.577304	0.33150	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	5.07	5.07	0.68106	5.790000	0.68684	7.441000	0.58873	0.524000	0.24156	0.999000	0.42656	1.000000	0.68203	0.216000	0.22352	0.0:1.0:0.0:0.0	18.514	0.90880	84	0.96491	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	726.98	35	chr10	103602846	.	C	T	726.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=1260;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.20;ReadPosRankSum=-4.300e-01;SOR=0.653	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr10	103612931	103612931	C	T	exonic	SH3PXD2A	.	nonsynonymous SNV	SH3PXD2A:NM_001365079:exon6:c.G823A:p.V275I	.	.	427	1087	7	1	0	9	0.00412277	.	.	3318036	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.51	T	0.069	B	0.01	B	0.060	N	1.000	N	0	N	0.73	T	-1.022	T	0.056	T	0.07	-0.139	3.321	-3.09	-0.391	-0.054	8.595	0.006	0.011659622552	.	.	0.0002	0	0.0002	0	0	6.1e-05	0.0012	0.0013	0.0001682	26	154602	rs771136503	0.0001	0.0001	7.763e-05	0.0001	0.0014	9.054e-05	8.537e-05	0.0007	0.0006	2.989e-05	2.24e-05	0.0002	0	1.874e-05	0.0014	4.588e-05	0.0002	0.0008	0.0001	0.0001	6.422e-05	0.0002	0.0012	7.083e-05	5.741e-05	0.0005	0.0004	0	0	0.0002	0.0003	0	0	0	8.819e-05	0.0005	0.0012	0.311	0.13971	T	0.459	0.12632	T	0.001	0.07471	B	0.0	0.04355	B	0.059880	0.22291	N	0.486804	1	0.08975	N	0	0.06538	N	0.58	0.54149	T	-0.21	0.10308	N	0.025	0.01135	-1.0223	0.22965	T	0.056	0.23527	T	10	0.011376262	0.00249	T	0.01166	0.29506	T	0.017	0.02790	0.235	0.16457	0.199424873507	0.19547	0.32874651389705317	0.32787	0.278459395054	0.30327	0.282944142818	0.07906	T	0.014814	0.12542	T	-0.574356	0.00209	T	-0.665275	0.07915	T	0.0117411851040579	0.00181	T	0.686431	0.31322	T	0.03338077	0.03547	0.029993081	0.01400	0.03338077	0.03546	0.029993081	0.01400	-4.531	0.31292	T	.	.	0.065	0.04159	B	.;.	.;.	0.028607	0.04484	1.195	0.69598615463472302	0.09023	0.08857	0.14723	N	AEFBCI	0.057238	0.10646	N	-1.38110976014506	0.02815	0.1248572	-1.38070142119034	0.03458	0.1613356	0.999855336748622	0.44174	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	5.67	-3.09	0.05006	-0.182000	0.09720	-0.495000	0.08836	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.124:0.1627:0.0:0.7133	8.595	0.32869	86	0.96395	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1201.98	35	chr10	103612931	.	C	T	1201.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=759;ExcessHet=0.0000;FS=5.441;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.69;ReadPosRankSum=0.158;SOR=1.491	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1219	20	0	1	0
chr10	103627176	103627176	C	T	exonic	SH3PXD2A	.	nonsynonymous SNV	SH3PXD2A:NM_001365079:exon3:c.G274A:p.E92K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.999	D	0.997	D	0.000	D	1.000	D	0.705	N	0.93	T	-0.887	T	0.187	T	0.786	5.733	36	5.33	2.503	5.710	17.793	0.072	0.0378397767145	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1179938628	2.055e-06	2.052e-06	2.727e-06	1.377e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	9.007e-07	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.23095	T	0.008	0.67890	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.705	0.18577	N	0.93	0.44065	T	-3.05	0.62976	D	0.814	0.80964	-0.8866	0.49223	T	0.187	0.53722	T	10	0.79042137	0.78611	D	0.03784	0.57860	D	0.342	0.66392	0.53	0.63707	0.57334081109	0.57001	0.6557515014627731	0.65511	1.14165798427	0.78952	0.801444590092	0.82183	T	0.044918	0.26964	T	-0.00795836	0.50551	T	-0.152354	0.59034	T	0.968521773815155	0.68273	D	0.932307	0.95630	D	0.5001987	0.67106	0.40109682	0.64628	0.5001987	0.67107	0.40109682	0.64628	-6.631	0.56117	T	.	.	0.641	0.70552	P	.;.	.;.	5.123554	0.85707	28.7	0.9994017620265192	0.99767	0.91845	0.54387	D	AEFBHCI	0.788340	0.71786	D	0.295981180293545	0.55944	3.758595	0.412248235433343	0.62325	4.446285	0.999999999999969	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.699875	0.68795	0	.	.	5.33	5.33	0.75683	6.124000	0.71349	7.638000	0.63056	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	17.793	0.88471	89	0.96298	SH3 domain|SH3 domain|SH3 domain|SH3PXD2A, SH3 domain 1;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	951.98	33	chr10	103627176	.	C	T	951.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=779;ExcessHet=0.0000;FS=0.820;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.07;ReadPosRankSum=0.178;SOR=0.558	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1146	20	0	1	0
chr10	103801317	103801317	T	C	exonic	SH3PXD2A	.	nonsynonymous SNV	SH3PXD2A:NM_014631:exon2:c.A118G:p.I40V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.498	P	0.421	B	0.001	D	1.000	D	0.55	N	-0.1	T	-0.849	T	0.180	T	0.29	3.643	18.53	6.03	2.313	6.913	12.952	0.171	0.0110154984197	.	.	8.334e-06	0	0	0	0	1.509e-05	0	0	6.5e-06	1	154602	rs779004473	5.478e-06	5.472e-06	4.088e-06	6.882e-06	3.479e-05	2.36e-06	1.7e-06	9.24e-06	4.56e-06	2.99e-05	0	0	0	0	0	2.701e-06	1.657e-05	3.479e-05	1.972e-05	1.97e-05	2.57e-05	1.346e-05	7.242e-05	5.24e-06	2.45e-06	1.92e-05	1.032e-05	7.242e-05	0	0	0	0	0	0	0	0	0	0.238	0.17881	T	0.187	0.28764	T	0.498	0.37115	P	0.421	0.45113	B	0.000513	0.43753	D	0.143574	0.999804	0.49283	D	0.6	0.15550	N	-0.1	0.64264	T	-0.44	0.14588	N	0.697	0.70527	-0.8488	0.52051	T	0.180	0.52736	T	10	0.5064326	0.61845	D	0.011015	0.28187	T	0.171	0.43483	0.538	0.64874	0.65995756008	0.65711	0.1646311746529899	0.16383	0.987518613566	0.73965	0.752776861191	0.74857	T	0.025939	0.19295	T	-0.192651	0.21871	T	-0.332978	0.41137	T	0.678638219833374	0.39726	D	0.935106	0.75644	D	0.07774427	0.17664	0.072810315	0.15750	0.07774427	0.17664	0.072810315	0.15750	-7.834	0.61383	D	.	.	0.128	0.30291	B	.;.	.;.	4.413317	0.68290	25.2	0.99772856680177791	0.86088	0.92511	0.55883	D	AEFDGBCI	0.829671	0.74854	D	0.238866573607491	0.53090	3.479604	0.400687814287206	0.61608	4.363275	0.999999999998892	0.74766	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	6.03	6.03	0.97798	7.050000	0.76333	7.861000	0.71444	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	12.952	0.57805	88	0.96322	Phox homologous domain|Phox homologous domain|Phox homologous domain|SH3PXD2, PX domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1491.98	38	chr10	103801317	.	T	C	1491.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.56;DP=813;ExcessHet=0.0000;FS=1.484;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.97;ReadPosRankSum=0.741;SOR=0.807	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1195	20	0	1	0
chr10	104002575	104002575	A	T	exonic	SLK	.	nonsynonymous SNV	SLK:NM_001304743:exon9:c.A1397T:p.N466I	.	.	433	1085	4	0	0	4	0.00183993	.	.	3333216	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.603	P	0.316	B	0.563	N	1.000	N	1.5	L	-0.41	T	-0.892	T	0.204	T	0.161	-0.161	3.213	-0.891	-0.081	0.030	7.500	0.069	0.0318210236455	.	.	2.517e-05	0	0	0	0	4.564e-05	0	0	1.94e-05	3	154602	rs752412807	1.446e-05	1.437e-05	1.646e-05	1.245e-05	0.0002	9.29e-06	7.89e-06	1.098e-05	8.85e-06	0	2.309e-05	0	0	0	0.0002	1.717e-05	0	0	4.598e-05	5.253e-05	3.854e-05	5.378e-05	0.0002	2.109e-05	1.527e-05	1.972e-05	1.124e-05	0	0	6.545e-05	0	0	0	0	5.878e-05	0.0005	0.0002	0.003	0.68238	D	0.195	0.29639	T	0.603	0.39389	P	0.316	0.41603	B	0.563482	0.11312	N	0.821570	1	0.08975	N	2.14	0.59869	M	-0.41	0.69536	T	-0.74	0.21860	N	0.129	0.12341	-0.8925	0.48713	T	0.204	0.56183	T	10	0.11614436	0.21900	T	0.031821	0.53806	D	0.069	0.20116	0.178	0.08503	0.701836728922	0.69925	0.10179081837209131	0.10110	0.0508659047656	0.05589	0.327637791634	0.14578	T	0.01121	0.10028	T	-0.343175	0.05172	T	-0.412651	0.31919	T	0.0588820059332775	0.06991	T	0.658834	0.26791	T	0.0973756	0.22953	0.061638534	0.11934	0.0973756	0.22952	0.061638534	0.11933	-3.908	0.22423	T	.	.	0.089	0.12037	B	.;.	.;.	1.092728	0.14763	11.31	0.89331112437497218	0.18705	0.29759	0.23906	N	AEFBI	0.120866	0.23525	N	-0.624469434555349	0.18212	0.9436502	-0.717857667965239	0.16516	0.8740774	0.777147719998097	0.23771	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.81	-0.891	0.10038	-0.257000	0.08765	0.125000	0.14969	0.658000	0.54486	0.000000	0.06391	0.012000	0.20211	0.052000	0.15357	0.4618:0.1254:0.4128:0.0	7.500	0.26683	66	0.97223	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	586.98	34	chr10	104002575	.	A	T	586.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.30;DP=743;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=-1.052e+00;SOR=0.671	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1039	20	0	1	0
chr10	104043512	104043538	GGAGGTCCTGGGGGTCCCATGGCTCCA	-	exonic	COL17A1	.	nonframeshift deletion	COL17A1:NM_000494:exon35:c.2478_2504del:p.M829_A837del,	Epidermolysis bullosa, junctional, localisata variant, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epithelial recurrent erosion dystrophy, Autosomal dominant	.	0	1518	3	1	0	5	0.0016442	.	.	444555	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00359425	0.0024	0	0.0002	0	0	0	0.0025	0.0173	0.0006916	18	26028	rs543835020	0.0010	0.0010	0.0005	0.0015	0.0162	0.0010	0.0009	0.0155	0.0152	0	0	0	5.038e-05	0	0.0003	2.698e-06	0.0010	0.0162	0.0005	0.0005	0.0002	0.0009	0.0166	0.0004	0.0004	0.0137	0.0126	0	0	0	0	0	0	0	0	0	0.0166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2290.94	36	chr10	104043511	.	TGGAGGTCCTGGGGGTCCCATGGCTCCA	T	2290.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.11;DP=866;ExcessHet=0.0000;FS=0.613;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.69;ReadPosRankSum=0.465;SOR=0.636	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1213	20	0	1	0
chr10	104057122	104057122	C	T	exonic	COL17A1	.	nonsynonymous SNV	COL17A1:NM_000494:exon17:c.G1318A:p.G440S,	Epidermolysis bullosa, junctional, localisata variant, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epithelial recurrent erosion dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	865375	Junctional_epidermolysis_bullosa,_non-Herlitz_type	MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650,Orphanet:251393,Orphanet:79402,Orphanet:79405,Orphanet:89840	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.014	B	0.002	B	0.939	N	1.000	N	1.61	L	0.89	T	-0.960	T	0.115	T	0.275	1.554	11.15	2.45	0.013	0.571	12.339	0.089	0.0145993442105	0.0002	0.000599042	0.0001	0	0	0.0007	0	0.0001	0	0	0.00011	17	154602	rs139463731	0.0001	0.0001	0.0001	0.0001	0.0004	9.235e-05	8.698e-05	0.0002	0.0002	3.435e-05	0	0.0001	0.0004	0	0.0002	0.0001	0.0002	0	0.0001	0.0001	0.0002	6.959e-05	0.0015	7.851e-05	6.507e-05	0.0008	0.0006	5.519e-05	0	0	0	0.0015	0	0	0.0001	0	0	0.004	0.65419	D	0.033	0.53072	D	0.002	0.16867	B	0.002	0.06944	B	0.938978	0.07582	N	1.039460	1	0.08975	N	0.55	0.14455	N	0.89	0.45636	T	-1.28	0.39503	N	0.228	0.27077	-0.9598	0.39218	T	0.115	0.40853	T	10	0.008690417	0.00197	T	0.014599	0.34823	T	0.089	0.25827	.	.	0.180583059064	0.17676	0.3921376840144152	0.39128	0.0659250797848	0.07352	0.33133020997	0.15136	T	0.31357	0.68531	T	-0.45717	0.01024	T	-0.57446	0.15043	T	0.0462331531334163	0.04826	T	0.381062	0.12628	T	0.046903074	0.07928	0.071208246	0.15221	0.046903074	0.07928	0.071208246	0.15221	-5.81	0.44661	T	.	.	0.093	0.14201	B	.;.;.;.	.;.;.;.	0.250037	0.06296	2.752	0.72383559144225651	0.09954	0.04414	0.10004	N	AEFBCI	0.039817	0.05836	N	-1.52682657942556	0.01675	0.07328486	-1.53931677527008	0.02050	0.0937324	0.995665256709419	0.34254	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.33	2.45	0.28953	-0.208000	0.09375	0.085000	0.14440	-1.617000	0.00873	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.8659:0.0:0.1341	12.339	0.54411	48	0.97687	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	511.98	39	chr10	104057122	.	C	T	511.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=949;ExcessHet=0.0000;FS=4.035;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.04;ReadPosRankSum=0.989;SOR=1.297	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	20	0	1	0
chr10	104186084	104186084	C	T	exonic	CFAP43	.	nonsynonymous SNV	CFAP43:NM_025145:exon15:c.G1900A:p.V634I,	.	.	439	1079	3	1	0	5	0.0023116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	B	0.006	B	0.397	N	0.998	N	0.55	N	1.75	T	-1.008	T	0.001	T	0.035	-0.837	0.582	-5.56	-0.940	-0.481	7.663	0.018	.	0.0005	0.0191693	0.0101	0.0008	0.0403	0.0786	0	0.0003	0.0023	0.0014	0.0088809	1373	154602	rs17116635	0.0035	0.0038	0.0037	0.0034	0.0964	0.0034	0.0034	0.0938	0.0927	0.0003	0.0278	0	0.0964	0	0	7.753e-05	0.0039	0.0011	0.0043	0.0043	0.0041	0.0045	0.0820	0.0040	0.0039	0.0755	0.0730	0.0008	0	0.0108	0	0.0820	0	0	0.0001	0.0033	0.0027	0.762	0.03984	T	0.766	0.19188	T	0.0	0.02946	B	0.002	0.06944	B	0.397230	0.13174	N	0.600167	1	0.08975	N	.	.	.	1.75	0.26152	T	0.16	0.05917	N	0.028	0.00618	-1.0083	0.27448	T	0.001	0.00318	T	9	0.0011375546	0.00013	T	.	.	.	0.018	0.03083	.	.	0.115124310173	0.11017	0.11736952144526015	0.11664	0.106296802578	0.12020	0.319176197052	0.13295	T	0.029015	0.20885	T	-0.755221	0.00016	T	-0.780122	0.02450	T	0.00149780474840413	0.00015	T	0.628437	0.24588	T	0.027331298	0.01909	0.024733126	0.00499	0.022663727	0.00944	0.024733126	0.00498	-3.286	0.13558	T	.	.	0.090	0.12750	B	.;.	.;.	0.345836	0.07190	3.781	0.39824103142942374	0.02772	0.01242	0.04380	N	AEFBI	0.037320	0.05114	N	-1.30760202589618	0.03588	0.1605219	-1.34645429885038	0.03847	0.1803239	0.0741851148048698	0.15658	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.95	-5.56	0.02328	-0.454000	0.06845	-0.672000	0.07929	-0.176000	0.10722	0.031000	0.20493	0.016000	0.20520	0.939000	0.47918	0.0:0.1748:0.2394:0.5858	7.663	0.27584	97	0.95994	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	821.98	36	chr10	104186084	.	C	T	821.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.880e-01;DP=752;ExcessHet=0.0000;FS=0.979;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=1.99;SOR=0.525	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr10	104186125	104186125	T	C	splicing	CFAP43	NM_025145:exon15:c.1861-2A>G	.	.	.	.	.	.	.	.	.	.	.	0.9999	0.792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	0.586	7.162	4.66	1.026	3.889	8.678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0329111	0.56111	T	-0.190502	0.55543	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.957575	0.58026	23.9	0.82099679945918524	0.14018	0.95451	0.64773	D	AEFBI	.	.	.	0.78793449362315	0.85345	8.548297	0.57726273386018	0.73315	5.950073	0.0706909436537813	0.15537	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.257714	0.33053	5.8	4.66	0.57857	3.949000	0.56377	7.747000	0.68085	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.414000	0.27095	0.0:0.086:0.0:0.914	8.678	0.33356	97	0.95994	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	527.98	36	chr10	104186125	.	T	C	527.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.130;DP=753;ExcessHet=0.0000;FS=1.191;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=-6.170e-01;SOR=1.017	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr10	104212153	104212153	C	T	exonic	CFAP43	.	nonsynonymous SNV	CFAP43:NM_025145:exon5:c.G589A:p.V197M,	.	.	432	1070	18	2	0	22	0.0101758	.	.	737336	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.973	D	0.219	N	0.555	N	1.435	L	1.58	T	-0.314	T	0.316	T	0.33	2.167	13.20	2.27	0.518	0.734	9.092	0.098	0.0587313912407	0.0042	0.00339457	0.0039	0.0006	0.0018	0	0.0006	0.0058	0.0022	0.0032	0.0040297	623	154602	rs117768807	0.0050	0.0050	0.0050	0.0050	0.0080	0.0049	0.0049	0.0061	0.0055	0.0006	0.0034	0.0278	2.521e-05	0.0010	0.0080	0.0051	0.0058	0.0036	0.0035	0.0035	0.0039	0.0030	0.0046	0.0032	0.0032	0.0042	0.0040	0.0006	0	0.0046	0.0242	0	0.0011	0.0068	0.0046	0.0052	0.0029	0.003	0.72154	D	0.003	0.76473	D	0.999	0.77913	D	0.973	0.72923	D	0.218985	0.16184	N	0.453907	0.554712	0.32163	D	.	.	.	1.58	0.70365	T	-1.75	0.45949	N	0.595	0.62526	-0.3135	0.74606	T	0.316	0.68566	T	10	0.00836578	0.00190	T	0.058731	0.67421	D	0.098	0.28162	.	.	0.652543851182	0.64965	0.4802863234926715	0.47948	0.488469659113	0.47645	0.424935042858	0.28515	T	0.078936	0.36010	T	-0.367765	0.03708	T	-0.299126	0.44817	T	0.0217730207700796	0.00883	T	0.831417	0.49863	T	0.09003141	0.21053	0.14748919	0.34901	0.10236114	0.24187	0.15738854	0.36803	-4.016	0.24042	T	.	.	0.269	0.50324	B	.;.;.;.	.;.;.;.	2.332787	0.29889	18.26	0.99672182759038686	0.78652	0.23303	0.22032	N	AEFBI	0.052138	0.09278	N	-0.0973471248305819	0.37507	2.183208	-0.259576539825165	0.29442	1.649586	1.43339874387244E-4	0.05573	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.51	2.27	0.27501	0.872000	0.27688	-0.193000	0.11018	0.599000	0.40250	0.518000	0.27096	0.000000	0.08366	0.378000	0.26290	0.0:0.7205:0.0:0.2795	9.092	0.35780	252	0.90114	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2132.98	33	chr10	104212153	.	C	T	2132.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.137e+00;DP=850;ExcessHet=0.0000;FS=4.074;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.81;ReadPosRankSum=-6.180e-01;SOR=0.409	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr10	104353898	104353898	A	T	exonic	CFAP58	.	startloss	CFAP58:NM_001008723:exon1:c.A1T:p.M1?,	.	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.0	B	0.001	B	0.583	N	1.000	D	.	.	1.61	T	-1.089	T	0.059	T	0.863	2.218	13.37	3.42	0.855	4.100	7.281	0.276	0.0763399071054	7.7e-05	.	3.303e-05	0	0	0	0	4.507e-05	0	6.076e-05	2.59e-05	4	154602	rs200898309	1.985e-05	1.984e-05	1.362e-05	2.614e-05	0.0002	1.393e-05	1.204e-05	2.194e-05	1.43e-05	0	0	0	0	3.747e-05	0.0002	1.799e-05	1.657e-05	5.799e-05	5.258e-05	5.254e-05	3.854e-05	6.729e-05	8.822e-05	2.558e-05	1.831e-05	3.763e-05	2.576e-05	0	0	0	0	0	0.0002	0	8.822e-05	0	0	0.165	0.23271	T	0.343	0.17857	T	0.0	0.02946	B	0.001	0.04355	B	0.583236	0.11123	N	0.796966	0.999999	0.81001	D	.	.	.	1.61	0.28391	T	-1.18	0.30140	N	0.884	0.88246	-1.0893	0.05650	T	0.059	0.24539	T	9	0.66671795	0.70470	D	0.07634	0.72508	D	0.276	0.59253	0.963	0.99627	0.206339911435	0.20273	0.40713216472151265	0.40629	.	.	.	.	.	0.029111	0.20935	T	0.0957651	0.63832	D	-0.0365706	0.67931	D	0.962565898895264	0.66405	D	0.9	0.65058	D	0.36672702	0.58342	0.43915385	0.67277	0.36672702	0.58343	0.43915385	0.67277	-11.782	0.83772	D	.	.	.	.	.	.	.	5.229082	0.87771	29.4	0.91947960359363801	0.21274	0.55821	0.29961	D	AEFGBHCI	0.025193	0.01686	N	-0.185063388869124	0.33756	1.918738	-0.0615498643881479	0.36993	2.160191	0.999999998235115	0.74766	0.437478	0.07067	0	0.491552	0.07993	0	0.606814	0.37721	0	0.603991	0.37454	0	.	.	4.57	3.42	0.38259	4.082000	0.57357	11.014000	0.84885	0.738000	0.86027	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.8949:0.0:0.1051:0.0	7.281	0.25484	131	0.94738	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1090.98	38	chr10	104353898	.	A	T	1090.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.198;DP=808;ExcessHet=0.0000;FS=3.393;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.49;ReadPosRankSum=0.543;SOR=1.007	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1242	20	0	1	0
chr10	104454495	104454495	G	A	exonic	CFAP58	.	nonsynonymous SNV	CFAP58:NM_001008723:exon18:c.G2584A:p.G862R,	.	.	439	1081	2	0	0	2	0.000924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	N	1.000	D	2.885	M	-2.0	D	0.730	D	0.786	D	0.921	2.763	15.20	5.47	2.724	5.443	16.837	0.692	0.191804016499	.	.	.	.	.	.	.	.	.	.	.	.	.	rs766303918	2.737e-06	3.42e-06	4.085e-06	1.375e-06	1.16e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	1.16e-05	6.573e-06	6.567e-06	1.285e-05	0	6.551e-05	0	0	.	.	0	0	6.551e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000325	0.45700	N	0.187572	0.999999	0.58761	D	.	.	.	-2.0	0.85393	D	-4.58	0.78807	D	0.777	0.77413	0.730	0.93546	D	0.786	0.92740	D	10	0.8125957	0.80528	D	0.191804	0.86206	D	0.692	0.88820	0.38	0.39645	0.484763619824	0.48107	0.5213949821049538	0.52062	0.304478965175	0.32754	0.482314318419	0.36375	T	0.200426	0.55801	T	0.321389	0.84571	D	0.324507	0.89281	D	0.998089015483856	0.93188	D	0.880612	0.59878	D	0.71213835	0.78725	0.7046215	0.82589	0.71213835	0.78726	0.7046215	0.82590	-3.238	0.12951	T	.	.	0.806	0.77569	P	.	.	4.728184	0.76132	26.5	0.99889918980979797	0.96436	0.98369	0.82077	D	AEFI	0.639845	0.61775	D	0.740293023119952	0.82272	7.721707	0.645460077616794	0.78272	6.843141	0.772070067368339	0.23689	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.47	5.47	0.80345	5.609000	0.67343	11.813000	0.96995	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.193000	0.21690	0.0:0.0:1.0:0.0	16.837	0.85823	171	0.93390	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1894.98	37	chr10	104454495	.	G	A	1894.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.933;DP=851;ExcessHet=0.0000;FS=1.243;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=0.289;SOR=0.584	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr10	105200069	105200069	C	T	exonic	SORCS3	.	nonsynonymous SNV	SORCS3:NM_014978:exon15:c.C2080T:p.R694W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.959	D	0.000	N	1.000	D	3.205	M	1.56	T	-0.664	T	0.214	T	0.478	4.181	21.7	4.23	0.903	1.203	8.378	0.306	0.0601097493562	.	.	3.298e-05	0	0	0	0	4.499e-05	0	6.061e-05	2.59e-05	4	154602	rs202188584	3.49e-05	3.489e-05	2.451e-05	4.539e-05	0.0002	2.698e-05	2.439e-05	2.995e-05	2.038e-05	5.981e-05	2.237e-05	0	2.519e-05	0.0005	0.0002	8.096e-06	6.627e-05	6.957e-05	4.6e-05	4.597e-05	1.285e-05	8.072e-05	6.545e-05	2.109e-05	1.527e-05	1.171e-05	6.25e-06	0	0	6.545e-05	0	0	0.0003	0	4.41e-05	0	0	0.01	0.56456	D	0.001	0.83351	D	1.0	0.90584	D	0.959	0.70163	D	0.000002	0.62929	N	0.057204	0.999822	0.49512	D	3.57	0.93460	H	1.56	0.29602	T	-6.64	0.92217	D	0.433	0.49874	-0.6638	0.62108	T	0.214	0.57494	T	9	0.4287163	0.57347	T	0.06011	0.67892	D	0.306	0.62729	.	.	0.566010919861	0.56265	0.9112356988839926	0.91097	1.11478728915	0.78149	0.448437571526	0.31731	T	0.340982	0.70994	T	-0.190448	0.22193	T	-0.329814	0.41489	T	0.77723645977726	0.44878	D	0.941806	0.78262	D	0.44616818	0.63798	0.34546185	0.60228	0.44616818	0.63799	0.34546185	0.60228	-8.838	0.66648	D	.	.	0.158	0.35288	B	.;.	.;.	4.537813	0.71295	25.7	0.99930053286944798	0.99334	0.84807	0.43897	D	AEFI	0.637561	0.61630	D	0.573142110490475	0.71502	5.66059	0.501722569310322	0.68107	5.174565	0.00124647765639028	0.08372	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.07	4.23	0.49319	0.972000	0.29007	1.123000	0.24260	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1237:0.759:0.0:0.1173	8.378	0.31614	127	0.94899	Sortilin, C-terminal|VPS10;Sortilin, C-terminal|VPS10	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1333.98	41	chr10	105200069	.	C	T	1333.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=854;ExcessHet=0.0000;FS=1.432;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=0.829;SOR=0.566	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,117,1755	20	0	1	0
chr10	106577484	106577484	G	T	exonic	SORCS1	.	nonsynonymous SNV	SORCS1:NM_052918:exon26:c.C3443A:p.A1148E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	B	0.032	B	.	.	1.000	D	0.69	N	2.45	T	-1.056	T	0.034	T	0.474	0.065	4.353	5.73	2.868	4.245	18.443	0.138	0.0101619003028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.31682	T	1.0	0.01155	T	0.023	0.18885	B	0.032	0.22131	B	.	.	.	.	1	0.81001	D	0.345	0.11182	N	2.45	0.15028	T	2.17	0.00335	N	0.143	0.14338	-1.0562	0.12724	T	0.034	0.14683	T	8	0.13044164	0.24824	T	0.010162	0.26368	T	0.138	0.37187	0.146	0.04941	0.043077524339	0.03247	0.49267544841862115	0.49188	.	.	.	.	.	0.054091	0.29627	T	-0.14404	0.29248	T	-0.44468	0.28285	T	0.417344349744827	0.29592	T	0.549145	0.18877	T	0.24528234	0.47485	0.48256972	0.70040	0.24528234	0.47485	0.48256972	0.70041	-2.805	0.08230	T	.	.	0.106	0.19559	B	.;.	.;.	3.300547	0.45302	22.1	0.91122369033809825	0.20375	0.51270	0.28856	D	ALL	0.662506	0.63235	D	-0.00763996353340679	0.41508	2.484097	0.213918023484928	0.50619	3.252074	0.999999999999999	0.74766	0.516213	0.21343	1	0.624306	0.53593	0	0.651303	0.49530	0	0.564101	0.26826	0	.	.	5.73	5.73	0.89730	4.423000	0.59610	11.784000	0.96188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.443	0.90621	783	0.47268	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	318.11	33	chr10	106577484	.	G	T	318.11	.	AC=1;AF=0.050;AN=20;BaseQRankSum=-3.303e+00;DP=1627;ExcessHet=0.0000;FS=185.973;InbreedingCoeff=-0.1961;MLEAC=2;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=3.09;ReadPosRankSum=1.55;SOR=6.516	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:104,0:104:59:.:.:0,59,2946	9	0	1	11
chr10	106577491	106577491	G	T	exonic	SORCS1	.	nonsynonymous SNV	SORCS1:NM_052918:exon26:c.C3436A:p.Q1146K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	.	.	1.000	D	-0.69	N	2.51	T	-0.957	T	0.014	T	0.247	1.802	11.98	4.5	2.759	2.754	14.175	0.071	0.00759179261642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.883	0.03196	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	0	0.06538	N	2.51	0.14284	T	-0.44	0.14588	N	0.158	0.16447	-0.9568	0.39771	T	0.014	0.05753	T	8	0.10073286	0.18362	T	0.007592	0.20139	T	0.071	0.20720	0.221	0.14371	0.043077524339	0.03247	0.5745721208767423	0.57386	.	.	.	.	.	0.074098	0.34857	T	-0.218113	0.18252	T	-0.551081	0.17221	T	0.461596542215346	0.31223	T	0.577942	0.20808	T	0.20850155	0.43089	0.22350946	0.47232	0.20850155	0.43089	0.22350946	0.47231	-4.75	0.34003	T	.	.	0.116	0.26669	B	.;.	.;.	3.267077	0.44703	22.0	0.96407388076669687	0.29709	0.11280	0.16529	N	ALL	0.206758	0.33299	N	-0.256309566586344	0.30852	1.724257	0.00518552660266288	0.39955	2.376971	0.999999999907742	0.74766	0.516213	0.21343	1	0.624306	0.53593	0	0.651303	0.49530	0	0.564101	0.26826	0	.	.	5.52	4.5	0.54382	2.778000	0.47412	9.471000	0.80872	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8083:0.1917	14.175	0.65071	783	0.47268	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05556	327.56	85	chr10	106577491	.	G	T	327.56	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-3.205e+00;DP=1636;ExcessHet=0.0000;FS=182.309;InbreedingCoeff=-0.2040;MLEAC=2;MLEAF=0.111;MQ=60.00;MQRankSum=0.00;QD=3.28;ReadPosRankSum=0.874;SOR=6.516	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:96,0:96:96:.:.:0,96,2852	8	0	1	12
chr10	106730082	106730082	A	G	exonic	SORCS1	.	nonsynonymous SNV	SORCS1:NM_001013031:exon6:c.T992C:p.L331P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.991	D	0.000	D	1.000	D	2.28	M	0.81	T	-0.537	T	0.284	T	0.955	3.851	19.56	5.8	2.216	5.061	12.537	0.570	0.0576294505343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	2.236e-05	0	0	.	.	0	2.236e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.979	0.74454	D	0.000025	0.55875	D	0.074944	1	0.81001	D	2.83	0.82355	M	0.81	0.48460	T	-4.73	0.80085	D	0.854	0.85027	-0.5372	0.67270	T	0.284	0.65616	T	9	0.7592543	0.76218	D	0.057629	0.67035	D	0.570	0.82516	0.755	0.88484	0.537527660974	0.53403	0.8420690533099604	0.84166	1.13854889537	0.78850	0.687743008137	0.65381	T	0.399764	0.75752	T	0.26906	0.80357	D	0.14871	0.80103	D	0.995599627494812	0.87712	D	0.832417	0.50060	T	0.9213448	0.93378	0.9138317	0.95960	0.9213448	0.93379	0.9138317	0.95961	-12.219	0.85901	D	.	.	0.961	0.88145	P	.;.;.;.	.;.;.;.	5.011837	0.83234	28.0	0.99913677270863899	0.98238	0.93762	0.59118	D	AEFI	0.770813	0.70564	D	0.663040809290395	0.77214	6.632097	0.643096386204326	0.78099	6.808312	0.104797029332518	0.16485	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.8	5.8	0.92081	5.311000	0.65574	11.144000	0.87156	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	12.537	0.55492	738	0.53389	Sortilin, N-terminal|VPS10;Sortilin, N-terminal|VPS10;Sortilin, N-terminal|VPS10;Sortilin, N-terminal|VPS10	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1149.98	34	chr10	106730082	.	A	G	1149.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.260e-01;DP=786;ExcessHet=0.0000;FS=2.606;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.73;ReadPosRankSum=-1.032e+00;SOR=0.474	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr10	109865258	109865258	A	G	exonic	XPNPEP1	.	nonsynonymous SNV	XPNPEP1:NM_001324133:exon22:c.T1985C:p.I662T,	.	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00199681	0.0013	0.0002	8.649e-05	0.0005	0	2.997e-05	0.0022	0.0085	0.0011061	171	154602	rs538836885	0.0005	0.0005	0.0003	0.0008	0.0075	0.0005	0.0005	0.0071	0.0069	2.987e-05	0	0	0.0004	0	0.0010	5.216e-05	0.0005	0.0075	0.0003	0.0003	0.0001	0.0005	0.0089	0.0003	0.0002	0.0068	0.0061	4.813e-05	0	0	0	0.0002	0	0	4.411e-05	0.0005	0.0089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	480.98	33	chr10	109865258	.	A	G	480.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.450e-01;DP=765;ExcessHet=0.0000;FS=1.047;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.88;ReadPosRankSum=-1.390e+00;SOR=0.502	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1164	20	0	1	0
chr10	109882610	109882610	G	A	exonic	XPNPEP1	.	nonsynonymous SNV	XPNPEP1:NM_001324128:exon8:c.C521T:p.P174L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.887	P	0.368	B	0.000	D	1.000	D	1.38	L	.	.	-0.785	T	0.186	T	0.891	4.170	21.6	5.82	2.757	8.864	18.286	0.324	0.00321764229603	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1263223063	2.052e-06	2.052e-06	2.722e-06	1.375e-06	2.519e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	2.519e-05	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.56456	D	0.054	0.50514	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	-2.48	0.65171	N	0.732	0.73285	-0.7851	0.56013	T	0.186	0.53586	T	9	0.51857364	0.62509	D	0.003218	0.07087	T	0.324	0.64624	0.443	0.49975	0.34333109794	0.33943	0.7635627406815334	0.76304	0.777115608898	0.65093	0.489170014858	0.37323	T	.	.	.	0.431523	0.91608	D	0.382076	0.91504	D	0.800749003887177	0.46403	D	0.931307	0.75239	D	.	.	.	.	.	.	.	.	-7.469	0.57392	T	.	.	0.099	0.23041	B	.;.;.;.;.	.;.;.;.;.	4.345271	0.66695	25.0	0.99718813116236893	0.81914	0.99378	0.95249	D	AEFGBI	0.936065	0.93184	D	0.529336838154282	0.68833	5.271889	0.637841081704558	0.77708	6.731655	0.999999999999998	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.82	5.82	0.92740	8.985000	0.93048	10.005000	0.83063	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	18.286	0.90055	963	0.08280	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	640.98	36	chr10	109882610	.	G	A	640.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.840e-01;DP=769;ExcessHet=0.0000;FS=2.318;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.34;ReadPosRankSum=-3.980e-01;SOR=0.392	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1372	20	0	1	0
chr10	109888103	109888103	C	T	exonic	XPNPEP1	.	nonsynonymous SNV	XPNPEP1:NM_001324128:exon5:c.G256A:p.D86N	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.002	B	0.005	B	0.000	N	1.000	D	1.06	L	.	.	-0.963	T	0.130	T	0.067	3.699	18.79	3.83	1.356	4.053	9.665	0.138	0.00387809113227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.41915	T	0.185	0.31629	T	.	.	.	.	.	.	0.000001	0.84330	N	0.094335	0.999956	0.52396	D	.	.	.	.	.	.	-3.86	0.73893	D	0.233	0.32037	-0.9632	0.38567	T	0.130	0.43927	T	9	0.20810613	0.37128	T	0.003878	0.09117	T	0.138	0.37187	0.438	0.49157	0.134007934775	0.12933	0.8175089366439597	0.81707	0.573681854997	0.53415	0.445728898048	0.31360	T	.	.	.	-0.18147	0.23516	T	-0.498445	0.22508	T	0.962348580360413	0.66341	D	0.882712	0.70392	D	.	.	.	.	.	.	.	.	-8.007	0.62013	D	.	.	0.121	0.25067	B	.;.;.;.;.	.;.;.;.;.	3.372222	0.46602	22.3	0.99802907052794787	0.88728	0.89589	0.50150	D	AEFBCI	0.460782	0.51081	N	-0.113925205847871	0.36787	2.131083	0.0606600761743817	0.42590	2.578696	0.999999623520121	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.74	3.83	0.43287	4.117000	0.57623	4.019000	0.41233	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.8353:0.0:0.1647	9.665	0.39143	963	0.08280	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1089.98	34	chr10	109888103	.	C	T	1089.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.849;DP=780;ExcessHet=0.0000;FS=6.868;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.25;ReadPosRankSum=0.328;SOR=0.881	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1079	20	0	1	0
chr10	109888578	109888578	T	C	exonic	XPNPEP1	.	nonsynonymous SNV	XPNPEP1:NM_001324128:exon4:c.A91G:p.T31A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.116	B	0.034	B	0.000	D	1.000	D	2.055	M	.	.	-0.707	T	0.237	T	0.322	3.444	17.66	5.82	2.229	3.586	14.759	0.119	0.00561056718364	.	.	4.269e-05	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs759432545	9.613e-06	1.026e-05	2.73e-06	1.658e-05	0.0001	5.58e-06	4.36e-06	8.099e-05	6.316e-05	0	0	0	0	0	0	0	3.323e-05	0.0001	6.573e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.008	0.68238	D	0.013	0.67890	D	.	.	.	.	.	.	0.000000	0.84330	D	0.051146	0.999915	0.51042	D	.	.	.	.	.	.	-2.76	0.58733	D	0.321	0.40164	-0.7070	0.60100	T	0.237	0.60379	T	9	0.19192293	0.34899	T	0.005611	0.14500	T	0.119	0.33137	0.286	0.24440	0.117191471859	0.11215	0.49048063471689357	0.48968	0.576793255271	0.53631	0.468958586454	0.34537	T	.	.	.	-0.191914	0.21977	T	-0.265139	0.48309	T	0.607243537902832	0.36690	D	0.857514	0.54691	D	.	.	.	.	.	.	.	.	-7.361	0.59154	T	.	.	0.133	0.28664	B	.;.;.;.;.	.;.;.;.;.	3.627695	0.51366	23.1	0.99544787885473607	0.70773	0.89145	0.49436	D	AEFDBCI	0.531049	0.55149	D	0.0916658710626273	0.46075	2.853528	0.249911911393808	0.52643	3.437932	0.999999966863158	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.723	0.93126	0	.	.	5.82	5.82	0.92740	3.570000	0.53578	6.194000	0.54806	0.644000	0.52426	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.759	0.69213	963	0.08280	Creatinase, N-terminal;.;.;Creatinase, N-terminal;Creatinase, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	807.98	36	chr10	109888578	.	T	C	807.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.80;DP=759;ExcessHet=0.0000;FS=3.615;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=-2.642e+00;SOR=0.453	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1127	20	0	1	0
chr10	110130462	110130462	G	A	exonic	ADD3	.	nonsynonymous SNV	ADD3:NM_001121:exon13:c.G1708A:p.E570K	Cerebral palsy, spastic quadriplegic, 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.994	D	0.746	P	0.000	D	1.000	D	1.935	M	1.97	T	-1.096	T	0.110	T	0.823	5.201	33	5.9	2.798	6.289	20.279	0.230	0.013057342915	.	.	4.946e-05	0.0003	0	0.0001	0	3e-05	0	0	3.88e-05	6	154602	rs767558945	1.163e-05	1.163e-05	9.531e-06	1.375e-05	0.0002	7.09e-06	5.79e-06	7.31e-06	5.72e-06	2.988e-05	2.237e-05	0	0	0	0.0002	1.259e-05	0	0	7.228e-05	7.22e-05	8.998e-05	5.377e-05	0.0002	3.971e-05	3.127e-05	7.881e-05	5.581e-05	0.0002	0	6.539e-05	0	0	0	0	4.412e-05	0	0	0.005	0.65419	D	0.025	0.61642	D	0.994	0.66517	D	0.746	0.55899	P	0.000024	0.55875	D	0.154579	0.999983	0.54805	D	3.13	0.88074	M	1.97	0.22067	T	-2.97	0.61865	D	0.765	0.77978	-1.0960	0.04611	T	0.110	0.39723	T	10	0.5927963	0.66475	D	0.013057	0.32163	T	0.230	0.53062	0.32	0.29902	0.352034026911	0.34807	0.522071608112274	0.52130	0.172189131585	0.19394	0.600900828838	0.53031	T	0.47234	0.80466	T	-0.0646455	0.42178	T	-0.0512002	0.66941	D	0.582858232865209	0.35728	D	0.986701	0.95453	D	0.3515112	0.57184	0.35656753	0.61165	0.3515112	0.57185	0.35656753	0.61165	-9.465	0.70641	D	0.3637020212946673	0.45990	0.115	0.36073	B	.;.;.	.;.;.	4.863822	0.79612	27.1	0.99926333190370964	0.99103	0.96951	0.71837	D	AEFGBI	0.800750	0.72664	D	0.685149816362162	0.78659	6.916367	0.726283776652791	0.84375	8.274233	0.999997367950035	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	6.431000	0.73320	11.754000	0.95474	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.279	0.98503	958	0.09170	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1403.98	33	chr10	110130462	.	G	A	1403.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.201;DP=803;ExcessHet=0.0000;FS=3.321;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.80;ReadPosRankSum=-6.810e-01;SOR=0.951	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1262	20	0	1	0
chr10	110133616	110133619	TAAA	-	exonic	ADD3	.	nonframeshift deletion	ADD3:NM_001121:exon14:c.2023_2026del:p.*675*	Cerebral palsy, spastic quadriplegic, 3, Autosomal recessive	.	452	1067	3	0	0	3	0.00140384	.	.	438723	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0004	0.0001	8.781e-05	0	0	0.0006	0	0.0002	0.0002781	43	154602	rs753541585	0.0002	0.0002	0.0002	0.0003	0.0052	0.0002	0.0002	0.0037	0.0032	9.631e-05	0.0001	0.0041	2.542e-05	0	0.0052	0.0002	0.0007	0.0001	0.0003	0.0003	0.0003	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	9.662e-05	0	0.0002	0.0035	0	0	0	0.0003	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	168.94	30	chr10	110133615	.	CTAAA	C	168.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.320e-01;DP=494;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=-6.400e-02;SOR=0.631	GT:AD:DP:GQ:PL	0/0:22,0:22:51:0,51,765	20	0	1	0
chr10	110207935	110207935	G	A	exonic	MXI1	.	nonsynonymous SNV	MXI1:NM_130439:exon1:c.G127A:p.A43T,	Neurofibrosarcoma (3)	.	405	1115	2	0	0	2	0.000896057	.	.	796357	MXI1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.025	B	0.018	B	0.697	U	1.000	D	0.69	N	0.79	T	-1.047	T	0.097	T	0.063	2.041	12.78	2.54	0.874	3.210	8.784	0.088	0.110659963475	0.0025	0.000798722	0.0022	0.0007	0.0015	0	0.0012	0.0031	0	0.0017	0.0016106	249	154602	rs141964073	0.0027	0.0027	0.0028	0.0026	0.0032	0.0026	0.0026	0.0031	0.0031	0.0006	0.0010	0	0	0.0005	0.0006	0.0032	0.0025	0.0012	0.0019	0.0019	0.0022	0.0017	0.0033	0.0018	0.0017	0.0030	0.0028	0.0007	0	0.0017	0	0	0.0002	0	0.0033	0.0024	0.0017	0.007	0.59928	D	0.228	0.59159	T	0.025	0.19245	B	0.018	0.18489	B	0.697246	0.06181	U	1.198500	0.991672	0.24000	N	.	.	.	0.79	0.49068	T	-0.29	0.11728	N	0.205	0.22742	-1.0474	0.15130	T	0.097	0.36315	T	10	0.008568615	0.00194	T	0.11066	0.78813	D	0.088	0.25558	.	.	0.176862962021	0.17281	0.38738750338664163	0.38653	0.545405473843	0.51576	0.777483582497	0.78549	T	.	.	.	-0.55856	0.00259	T	-0.579725	0.14568	T	0.0611183637600256	0.07344	T	0.69993	0.30971	T	.	.	.	.	.	.	.	.	-5.407	0.40987	T	.	.	0.081	0.08465	B	.;.	.;.	2.557977	0.33119	19.25	0.99428981775484293	0.64179	0.39342	0.26191	N	AEFDBCI	0.123198	0.23869	N	-0.372434177743718	0.26456	1.443973	-0.257400526258589	0.29516	1.654343	0.999977749199741	0.50053	0.455138	0.09556	0	0.609123	0.50646	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	4.64	2.54	0.29674	4.526000	0.60280	2.709000	0.34221	0.548000	0.25860	1.000000	0.71638	0.999000	0.35428	0.493000	0.28859	0.0:0.0:0.5893:0.4107	8.784	0.33968	941	0.13089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1832.98	45	chr10	110207935	.	G	A	1832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.00;DP=853;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.32;ReadPosRankSum=1.53;SOR=0.761	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,101,1418	20	0	1	0
chr10	110502803	110502803	G	C	exonic	DUSP5	.	nonsynonymous SNV	DUSP5:NM_004419:exon2:c.G462C:p.E154D,	.	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.877	P	0.339	B	0.000	D	1.000	D	0.345	N	1.55	T	-1.100	T	0.011	T	0.254	1.799	11.97	4.15	0.846	2.168	11.116	0.076	.	0.0042	0.0139776	0.0128	0.0030	0.0708	0.0339	0.0064	0.0042	0.0088	0.0045	0.0125678	1943	154602	rs2282238	0.0080	0.0081	0.0087	0.0074	0.0665	0.0079	0.0079	0.0645	0.0637	0.0018	0.0665	0.0005	0.0448	0.0070	0.0005	0.0050	0.0099	0.0042	0.0099	0.0100	0.0091	0.0108	0.0445	0.0095	0.0093	0.0417	0.0406	0.0030	0.0318	0.0445	0.0006	0.0305	0.0082	0	0.0054	0.0142	0.0064	0.53	0.07025	T	0.583	0.08419	T	0.877	0.48223	P	0.339	0.42346	B	0.000000	0.84330	D	0.000000	0.999994	0.58761	D	2.26	0.64354	M	1.55	0.29866	T	-0.8	0.22078	N	0.123	0.11483	-1.1000	0.04091	T	0.011	0.03996	T	10	0.0047810078	0.00101	T	.	.	.	0.076	0.22200	0.111	0.02112	.	.	0.7077919377368567	0.70721	0.143490453161	0.16199	0.419095158577	0.27712	T	0.072114	0.34374	T	-0.520408	0.00438	T	-0.46442	0.26120	T	0.0269226780013932	0.01533	T	0.620138	0.23804	T	0.13261358	0.30873	0.092755735	0.21876	0.13261358	0.30873	0.092755735	0.21875	-4.434	0.30015	T	.	.	0.084	0.09772	B	.	.	1.987030	0.25245	16.69	0.98987322397196131	0.49861	0.96664	0.70285	D	AEFDGBHCI	0.476155	0.51969	N	-0.0467079218261955	0.39749	2.349175	0.050291520979439	0.42085	2.539501	0.999999976038697	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.643519	0.47002	0	0.591603	0.36755	0	.	.	6.02	4.15	0.47978	2.240000	0.42737	3.294000	0.37329	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.843000	0.39806	0.0689:0.1293:0.8018:0.0	11.116	0.47484	912	0.21483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	385.98	33	chr10	110502803	.	G	C	385.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.640e-01;DP=739;ExcessHet=0.0000;FS=6.207;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.72;ReadPosRankSum=0.071;SOR=1.008	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1221	20	0	1	0
chr10	110799866	110799866	G	A	exonic	RBM20	.	nonsynonymous SNV	RBM20:NM_001134363:exon7:c.G1748A:p.G583D,	Cardiomyopathy, dilated, 1DD, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	198203	not_provided|Cardiomyopathy|Dilated_cardiomyopathy_1DD|Cardiovascular_phenotype	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0013168,MedGen:C2750995,OMIM:613172,Orphanet:154|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.2	T	0.129	B	0.174	B	0.042	N	0.995	D	1.115	L	-1.5	D	-0.582	T	0.327	T	0.425	2.312	13.69	4.27	2.591	4.789	5.512	0.403	0.0180794661642	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs767827357	2.715e-05	2.599e-05	2.678e-05	2.752e-05	0.0002	2.018e-05	1.767e-05	3.809e-05	2.257e-05	3.165e-05	0.0001	0	0	0	0.0002	2.688e-05	5.16e-05	0	1.971e-05	1.97e-05	3.853e-05	0	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.444	0.09155	T	1.0	0.01155	T	.	.	.	.	.	.	0.041758	0.23916	N	0.426761	0.994764	0.42407	D	.	.	.	-1.5	0.81318	D	-2.77	0.58733	D	0.277	0.31365	-0.5822	0.65530	T	0.327	0.69487	T	10	0.18673912	0.34152	T	0.018079	0.40021	T	0.403	0.71636	.	.	0.578489777024	0.57519	0.6028542314243824	0.60216	.	.	0.595799028873	0.52311	T	.	.	.	-0.152634	0.27900	T	-0.220356	0.52704	T	0.26274561882019	0.23434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.34558	B	.	.	3.019489	0.40410	21.2	0.99023122047209533	0.50634	0.85210	0.44323	D	AEFBI	0.290836	0.40212	N	0.0816006958583592	0.45606	2.814261	0.236832013952499	0.51903	3.369004	0.999998766040178	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.19	4.27	0.50009	4.898000	0.62925	9.890000	0.82266	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.2803:0.0:0.7197:0.0	5.512	0.16174	916	0.20744	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1641.98	40	chr10	110799866	.	G	A	1641.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.020e-01;DP=934;ExcessHet=0.0000;FS=3.212;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=-1.890e+00;SOR=0.518	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr10	110812675	110812675	T	A	exonic	RBM20	.	nonsynonymous SNV	RBM20:NM_001134363:exon9:c.T2278A:p.Y760N,	Cardiomyopathy, dilated, 1DD, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.93	P	0.564	P	0.007	N	0.979	D	1.495	L	-0.98	T	-0.586	T	0.315	T	0.459	2.487	14.28	2.21	0.133	2.398	9.113	0.322	0.0584846876274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.287e-06	4.104e-06	4.23e-06	4.346e-06	0.0002	1.54e-06	1.01e-06	7.308e-05	4.94e-05	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.026	0.55759	D	.	.	.	.	.	.	0.006940	0.31707	N	0.213038	0.979313	0.39549	D	.	.	.	-0.98	0.75789	T	-4.04	0.74427	D	0.546	0.57263	-0.5860	0.65380	T	0.315	0.68469	T	10	0.37520155	0.53778	T	0.058485	0.67334	D	0.322	0.64420	0.223	0.14665	0.613891742858	0.61077	0.3467264033944168	0.34586	.	.	0.366566300392	0.20338	T	.	.	.	0.0320026	0.55989	T	-0.191807	0.55419	T	0.955992877483368	0.64646	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.35788	B	.	.	2.963793	0.39475	21.0	0.97453113724519402	0.34043	0.80403	0.40050	D	AEFDBCI	0.291264	0.40244	N	0.112335226844688	0.47038	2.935165	0.0988182264401368	0.44489	2.729732	0.999999766074148	0.74766	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.78	2.21	0.27042	2.453000	0.44627	0.668000	0.20568	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.976000	0.56436	0.0:0.2105:0.0:0.7895	9.113	0.35902	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1832.98	33	chr10	110812675	.	T	A	1832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.219;DP=883;ExcessHet=0.0000;FS=1.195;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=-1.124e+00;SOR=0.581	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1165	20	0	1	0
chr10	110812948	110812948	G	C	splicing	RBM20	NM_001134363:exon9:c.2550+1G>C	.	.	Cardiomyopathy, dilated, 1DD, Autosomal dominant	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.894	19.79	5.53	2.763	5.347	18.021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.476e-05	0.0003	4.26e-05	4.707e-05	5.237e-05	3.498e-05	3.194e-05	4.084e-05	3.703e-05	3.6e-05	0	0	2.899e-05	0	0	5.237e-05	3.79e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.251156	0.94881	34	0.99507410660897344	0.68381	0.92818	0.56620	D	AEFDBCI	.	.	.	1.12507704048458	0.98573	18.67087	0.981925618656443	0.98247	17.777	0.999999999687961	0.74766	0.078448	0.01964	0	0.097471	0.02872	0	0.063197	0.01477	0	0.058706	0.01089	0	0.983073	0.89660	5.53	5.53	0.82530	5.452000	0.66380	8.724000	0.78169	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.021	0.89178	917	0.20147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	43.78	35	chr10	110812948	.	G	C	43.78	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-1.396e+00;DP=1146;ExcessHet=0.0000;FS=139.108;InbreedingCoeff=-0.1187;MLEAC=1;MLEAF=0.033;MQ=60.00;MQRankSum=0.00;QD=0.49;ReadPosRankSum=1.27;SOR=8.005	GT:AD:DP:GQ:PL	0/0:57,0:57:96:0,96,1150	14	0	1	6
chr10	111078579	111078579	G	A	exonic	ADRA2A	.	nonsynonymous SNV	ADRA2A:NM_000681:exon1:c.G583A:p.G195S,	.	.	5	1515	2	0	0	2	0.000659631	.	.	2293441	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.42	T	0.256	B	0.027	B	0.001	U	0.640	N	0.475	N	-0.54	T	-0.800	T	0.167	T	0.242	1.156	9.707	3.23	1.753	2.111	3.185	0.128	0.0530444861304	0.0005	0.000599042	0.0005	0.0002	0.0008	0	0	0.0006	0	0.0004	0.000304	47	154602	rs200592713	0.0002	0.0002	0.0002	0.0003	0.0017	0.0002	0.0002	0.0009	0.0007	3.02e-05	0.0005	0.0029	0	0	0.0017	0.0002	0.0006	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0001	0.0001	4.837e-05	0	0.0003	0.0058	0	0	0	0.0002	0.0005	0	0.168	0.23007	T	0.33	0.18560	T	.	.	.	.	.	.	0.000657	0.00658	U	8.875730	0.639799	0.30626	N	.	.	.	-0.54	0.70950	T	-0.22	0.10480	N	0.278	0.31478	-0.7996	0.55168	T	0.167	0.50665	T	10	0.0074337423	0.00169	T	0.053044	0.65312	D	0.128	0.35103	.	.	0.503248607038	0.49961	0.3638278386033659	0.36296	.	.	0.393243849277	0.24126	T	.	.	.	-0.338622	0.05484	T	-0.381453	0.35553	T	0.0132221806109515	0.00235	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04159	B	.	.	2.527875	0.32681	19.11	0.98920777385372372	0.48546	0.68476	0.33817	D	AEFDBCI	0.298170	0.40756	N	-0.402614749898728	0.25378	1.377141	-0.304528045493231	0.27952	1.554802	0.996788786307982	0.35006	0.652421	0.48094	0	0.563428	0.19063	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	3.23	3.23	0.36150	2.146000	0.41840	5.346000	0.48359	0.590000	0.31872	0.981000	0.35396	1.000000	0.68203	0.191000	0.21631	0.227:0.0:0.5451:0.2278	3.185	0.06203	888	0.27761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1953.98	33	chr10	111078579	.	G	A	1953.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.474;DP=876;ExcessHet=0.0000;FS=1.210;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.56;ReadPosRankSum=0.082;SOR=0.564	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1168	20	0	1	0
chr10	112411981	112411989	TGAGTGTTC	-	splicing	ACSL5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.855e-07	6.841e-07	1.364e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1118.94	92	chr10	112411980	.	GTGAGTGTTC	G	1118.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=855;ExcessHet=0.0000;FS=1.747;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=-1.458e+00;SOR=0.900	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1153	20	0	1	0
chr10	113577182	113577182	C	T	exonic	HABP2	.	nonsynonymous SNV	HABP2:NM_001177660:exon5:c.C286T:p.R96W	.	.	421	1097	4	0	0	4	0.00181984	.	.	865450	HABP2-related_disorder|Factor_VII_Marburg_I_Variant_Thrombophilia|Thyroid_cancer,_nonmedullary,_5|Thrombophilia_due_to_thrombin_defect	.|MedGen:CN068943|MONDO:MONDO:0014682,MedGen:C4225292,OMIM:616535|MONDO:MONDO:0008559,MedGen:C3160733,OMIM:188050	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.997	D	0.724	P	0.117	N	1.000	D	1.845	L	0.09	T	-0.662	T	0.242	T	0.439	4.057	20.8	3.63	1.374	0.929	10.790	0.230	0.0323337413745	0.0018	0.000798722	0.0025	0.0007	0.0013	0	0.0012	0.0031	0.0011	0.0041	0.0024062	372	154602	rs78201625	0.0027	0.0027	0.0026	0.0028	0.0047	0.0026	0.0026	0.0043	0.0042	0.0004	0.0010	0.0024	5.04e-05	0.0014	0.0016	0.0029	0.0018	0.0047	0.0018	0.0018	0.0019	0.0017	0.0029	0.0016	0.0015	0.0026	0.0025	0.0004	0	0.0013	0.0023	0	0.0012	0	0.0029	0.0009	0.0027	0.152	0.27544	T	0.038	0.54934	D	0.997	0.70673	D	0.724	0.55036	P	0.117088	0.19167	N	0.566502	0.999999	0.58761	D	2.535	0.73915	M	0.09	0.61443	T	-1.94	0.45042	N	0.41	0.45426	-0.6619	0.62192	T	0.242	0.61036	T	10	0.014141113	0.00298	T	0.032334	0.54190	D	0.230	0.53062	.	.	0.71767939224	0.71519	0.6921587702223854	0.69155	0.0391274229948	0.04164	0.225515067577	0.01653	T	0.103462	0.41213	T	-0.315412	0.07280	T	-0.225714	0.52187	T	0.0377780197700476	0.03294	T	0.810819	0.46223	T	0.13011986	0.30370	0.16661122	0.38482	0.12904038	0.30150	0.15173118	0.35728	-10.309	0.75852	D	.	.	0.133	0.28892	B	.;.	.;.	4.171290	0.62719	24.5	0.99909431311965646	0.97949	0.50528	0.28683	D	AEFBHCI	0.507746	0.53791	D	0.186741802580345	0.50564	3.245059	0.117442191570917	0.45442	2.807213	0.00331410685711217	0.10051	0.403107	0.06075	0	0.578056	0.33634	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.65	3.63	0.40741	0.952000	0.28747	2.315000	0.32100	0.599000	0.40250	0.122000	0.23210	0.990000	0.31317	0.994000	0.71098	0.4819:0.5181:0.0:0.0	10.790	0.45627	906	0.23090	.;EGF-like domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2498.98	33	chr10	113577182	.	C	T	2498.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.810e-01;DP=924;ExcessHet=0.0000;FS=2.223;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.82;ReadPosRankSum=0.953;SOR=0.791	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1302	20	0	1	0
chr10	113595642	113595642	T	C	exonic	NRAP	.	nonsynonymous SNV	NRAP:NM_001322945:exon37:c.A4409G:p.N1470S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.997	D	0.995	D	0.000	D	0.999	D	2.96	M	0.54	T	-0.367	T	0.372	T	0.237	4.522	24.4	5.93	2.281	7.053	14.624	0.358	0.040314680899	.	.	4.945e-05	9.61e-05	0	0	0	0	0.0011	0.0002	3.88e-05	6	154602	rs753774370	2.808e-05	2.805e-05	2.454e-05	3.165e-05	0.0003	2.089e-05	1.88e-05	0.0002	0.0002	2.99e-05	0	0	0	0	0.0002	1.261e-05	1.657e-05	0.0003	0	6.562e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.073	0.43344	T	0.569	0.39993	P	0.327	0.46291	B	0.000000	0.84330	D	0.000000	0.999297	0.46578	D	3.5	0.92762	M	0.54	0.54911	T	-3.97	0.73684	D	0.911	0.91276	-0.3673	0.73043	T	0.372	0.73068	T	10	0.79510415	0.78999	D	0.040315	0.59308	D	0.358	0.67872	0.499	0.58991	0.773995652681	0.77192	0.7673044959976278	0.76679	0.385102580598	0.39804	0.553572773933	0.46362	T	0.285355	0.65814	T	-0.258767	0.13044	T	-0.317328	0.42866	T	0.974019885063171	0.70332	D	0.947905	0.80130	D	0.4568599	0.64475	0.44642425	0.67757	0.4568599	0.64476	0.44642425	0.67757	-6.986	0.53932	T	.	.	0.267	0.50618	B	.;.;.;.	.;.;.;.	3.757673	0.53903	23.4	0.99872167903657638	0.94989	0.98337	0.81764	D	AEFDBI	0.884018	0.81337	D	0.567372814407197	0.71144	5.606761	0.608397782619041	0.75549	6.33019	0.99998238762384	0.51787	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.93	5.93	0.95888	7.087000	0.76559	7.856000	0.71202	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:0.0:1.0	14.624	0.68208	919	0.19497	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1123.98	39	chr10	113595642	.	T	C	1123.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=818;ExcessHet=0.0000;FS=2.866;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=1.84;SOR=0.762	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1295	20	0	1	0
chr10	113610473	113610473	C	T	exonic	NRAP	.	nonsynonymous SNV	NRAP:NM_001322945:exon30:c.G3481A:p.E1161K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.599	P	0.281	B	0.000	D	1.000	D	2.18	M	2.36	T	-1.113	T	0.073	T	0.791	4.078	21.0	5.63	2.653	4.400	17.861	0.111	0.0132406032373	.	.	.	.	.	.	.	.	.	.	.	.	.	rs867734136	3.554e-06	1.232e-05	2.844e-06	4.264e-06	0.0009	1.04e-06	7.6e-07	0.0003	0.0002	0	0	0	0	0	0.0009	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.33091	T	0.025	0.56640	D	0.58	0.39298	P	0.281	0.40336	B	0.000059	0.53742	D	0.195113	0.999565	0.81001	D	2.265	0.64440	M	2.36	0.18724	T	-2.56	0.55339	D	0.433	0.47208	-1.1132	0.02809	T	0.073	0.29515	T	10	0.319956	0.49376	T	0.013241	0.32488	T	0.111	0.31313	0.37	0.38013	0.388010793773	0.38412	0.4283883898832142	0.42755	0.0821132296578	0.09255	0.687582731247	0.65359	T	0.121008	0.44366	T	0.0263615	0.55236	T	-0.19991	0.54654	T	0.967500746250153	0.67930	D	0.887111	0.80370	D	0.28495672	0.51520	0.19250625	0.42769	0.28495672	0.51519	0.19250625	0.42768	-7.337	0.56721	T	.	.	0.150	0.38959	B	.;.;.;.	.;.;.;.	3.554109	0.49978	22.9	0.99873762988498704	0.95076	0.97387	0.74426	D	AEFBI	0.798930	0.72534	D	0.32430701448872	0.57397	3.907039	0.422551619636636	0.62974	4.522123	0.999993941164706	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.63	5.63	0.86108	4.755000	0.61895	3.358000	0.37837	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.678000	0.33484	0.0:1.0:0.0:0.0	17.861	0.88695	917	0.20147	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1994.98	57	chr10	113610473	.	C	T	1994.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=1271;ExcessHet=0.0000;FS=2.317;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.09;ReadPosRankSum=0.375;SOR=0.948	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485	20	0	1	0
chr10	113629652	113629652	T	C	exonic	NRAP	.	nonsynonymous SNV	NRAP:NM_006175:exon18:c.A1871G:p.Y624C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.994	D	0.947	D	0.000	D	1.000	D	2.585	M	0.98	T	-0.574	T	0.253	T	0.729	3.706	18.82	4.04	0.887	4.272	11.014	0.287	0.037655680846	.	0.000199681	0.0002	0	0	0	0	0	0.0011	0.0012	0.0001423	22	154602	rs563517120	9.099e-05	9.098e-05	4.492e-05	0.0001	0.0015	7.824e-05	7.306e-05	0.0013	0.0012	0	0	0	0	0	0	0	3.312e-05	0.0015	2.626e-05	2.625e-05	2.569e-05	2.685e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.001	0.78490	D	0.125	0.35330	T	0.99	0.66517	D	0.947	0.68407	D	0.000001	0.84330	D	0.057838	0.999911	0.81001	D	2.85	0.82803	M	0.98	0.42122	T	-6.61	0.92086	D	0.709	0.72656	-0.5743	0.65844	T	0.253	0.62269	T	10	0.32343018	0.49680	T	0.037656	0.57750	D	0.287	0.60574	0.645	0.78224	0.602267601113	0.59909	0.6014939974952692	0.60080	0.409815521761	0.41790	0.682798564434	0.64671	T	0.299044	0.67159	T	-0.237133	0.15715	T	-0.14348	0.59815	T	0.500514030456543	0.32648	D	0.927007	0.73102	D	0.5891368	0.72103	0.4709927	0.69326	0.5891368	0.72105	0.4709927	0.69327	-9.1	0.68619	D	.	.	0.365	0.69337	A	.;.;.;.	.;.;.;.	4.268307	0.64919	24.8	0.99824328402893936	0.90677	0.93356	0.57998	D	AEFDBI	0.835247	0.75318	D	0.527928877739455	0.68747	5.260028	0.452692990883627	0.64890	4.754956	0.848610624088334	0.25001	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.19	4.04	0.46262	4.271000	0.58699	6.353000	0.55495	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.1529:0.0:0.0:0.8471	11.014	0.46892	889	0.27310	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1223.98	34	chr10	113629652	.	T	C	1223.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.370e-01;DP=823;ExcessHet=0.0000;FS=3.831;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=1.62;SOR=0.379	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr10	113850002	113850002	C	T	exonic	DCLRE1A	.	nonsynonymous SNV	DCLRE1A:NM_014881:exon2:c.G1103A:p.R368Q	.	.	423	1064	33	2	0	37	0.0170901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.94	T	0.0	B	0.0	B	0.763	N	1.000	N	-1.3	N	-0.07	T	-0.994	T	0.056	T	0.058	-0.505	1.688	2.4	0.511	0.374	4.842	0.063	0.00900799210836	0.0018	0.000998403	0.0028	0.0002	0.0004	0	0.0003	0.0028	0.0099	0.0078	0.0026326	407	154602	rs34407062	0.0030	0.0030	0.0027	0.0032	0.0091	0.0029	0.0029	0.0085	0.0083	0.0007	0.0007	0.0018	0	0.0007	0.0085	0.0029	0.0030	0.0091	0.0018	0.0018	0.0018	0.0018	0.0089	0.0016	0.0016	0.0068	0.0061	0.0004	0	0.0006	0.0012	0	0.0002	0.0170	0.0028	0.0028	0.0089	1.0	0.00964	T	0.965	0.02516	T	0.0	0.02946	B	0.0	0.01387	B	0.762884	0.09609	N	0.898328	1	0.08975	N	-1.445	0.00556	N	-0.07	0.63738	T	0.97	0.01467	N	0.023	0.00407	-0.9942	0.31512	T	0.056	0.23639	T	10	0.0034727156	0.00062	T	0.009008	0.23726	T	0.063	0.18251	.	.	0.46435556306	0.46064	0.05865013345647209	0.05806	0.130787246225	0.14758	0.202702075243	0.00539	T	0.035961	0.23920	T	-0.610291	0.00126	T	-0.643161	0.09441	T	0.00196664463206678	0.00020	T	0.534247	0.17838	T	0.020521026	0.00614	0.036115486	0.02995	0.020521026	0.00614	0.036115486	0.02994	-2.421	0.05263	T	.	.	0.062	0.01408	B	.;.	.;.	0.426492	0.07970	4.682	0.66527565912203024	0.08085	0.00128	0.00795	N	AEFBI	0.021531	0.00969	N	-1.41558403862917	0.02501	0.1105539	-1.28444773454241	0.04640	0.2193375	0.999778364301915	0.42865	0.566229	0.32551	0	0.586065	0.33999	0	0.658983	0.55881	0	0.674467	0.66132	0	.	.	6.02	2.4	0.28568	0.265000	0.18282	0.638000	0.20293	-0.114000	0.14653	0.000000	0.06391	0.419000	0.24798	0.112000	0.18829	0.1297:0.2833:0.0:0.587	4.842	0.12857	932	0.16191	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2415.98	33	chr10	113850002	.	C	T	2415.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.72;DP=918;ExcessHet=0.0000;FS=6.188;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.99;ReadPosRankSum=-2.290e+00;SOR=0.849	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	20	0	1	0
chr10	113850206	113850206	T	C	exonic	DCLRE1A	.	nonsynonymous SNV	DCLRE1A:NM_014881:exon2:c.A899G:p.Y300C	.	.	.	.	.	.	.	.	.	.	.	2274242	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.978	D	0.002	N	0.996	D	2.3	M	-1.16	T	0.261	D	0.591	D	0.671	3.329	17.20	4.78	2.304	3.286	12.402	0.563	0.0763563721905	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1428759751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.081	0.41742	T	1.0	0.90584	D	0.978	0.74104	D	0.002219	0.37012	N	0.237331	0.995988	0.42956	D	1.79	0.46772	L	-1.16	0.78082	T	-3.62	0.69593	D	0.65	0.66272	0.261	0.86920	D	0.591	0.85373	D	10	0.721245	0.73676	D	0.076356	0.72510	D	0.563	0.82118	0.442	0.49811	0.949440624445	0.94890	0.5876880810016654	0.58698	0.615980059293	0.56077	0.513321876526	0.40686	T	0.366165	0.73146	T	0.148381	0.69116	D	-0.0246375	0.68724	D	0.989315032958984	0.79558	D	0.838916	0.51225	T	0.42158708	0.62197	0.31968784	0.57928	0.42158708	0.62197	0.31968784	0.57928	-3.705	0.19392	T	.	.	0.468	0.63090	A	.;.	.;.	4.574140	0.72201	25.8	0.99813367053247148	0.89708	0.96883	0.71458	D	AEFDGBI	0.355928	0.44748	N	0.688517142163254	0.78878	6.961472	0.66387196925942	0.79649	7.126938	0.999996817609748	0.74766	0.562547	0.31514	0	0.586065	0.33999	0	0.566861	0.19136	0	0.635551	0.53088	0	.	.	6.02	4.78	0.60666	3.507000	0.53128	3.517000	0.38876	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1338:0.0:0.0:0.8662	12.402	0.54753	933	0.16026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2306.98	40	chr10	113850206	.	T	C	2306.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=1029;ExcessHet=0.0000;FS=4.336;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=1.43;SOR=0.672	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr10	114162905	114162905	A	T	exonic	CCDC186	.	nonsynonymous SNV	CCDC186:NM_018017:exon2:c.T364A:p.L122I	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.78	P	0.38	B	0.002	N	1.000	D	1.445	L	1.34	T	-1.069	T	0.079	T	0.248	2.965	15.89	5.68	2.174	1.335	7.007	0.041	0.0089236196809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.39820	T	0.401	0.20811	T	0.78	0.44271	P	0.38	0.43842	B	0.001728	0.38161	N	0.118776	0.885829	0.27969	N	.	.	.	1.34	0.34841	T	-0.3	0.24026	N	0.166	0.27077	-1.0689	0.09657	T	0.079	0.31466	T	10	0.13378838	0.25462	T	0.008924	0.23511	T	0.041	0.10877	0.204	0.11936	0.332133492242	0.32818	0.10959568986451589	0.10888	0.294244087511	0.31844	.	.	.	0.033186	0.22810	T	-0.152631	0.27900	T	-0.457021	0.26924	T	0.367824763059616	0.27713	T	0.768423	0.39759	T	0.045717895	0.07531	0.057504673	0.10466	0.045717895	0.07531	0.057504673	0.10465	-4.221	0.27055	T	.	.	0.095	0.36194	B	.;.;.;.	.;.;.;.	2.032724	0.25837	16.90	0.98910099006513685	0.48363	0.79326	0.39287	D	AEBI	0.121661	0.23644	N	0.239414297110612	0.53117	3.48216	0.323365189591556	0.56917	3.855758	0.999947806884769	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.68	5.68	0.88021	1.347000	0.33580	3.597000	0.39209	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.8746:0.0:0.1254:0.0	7.007	0.24019	633	0.64743	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1736.98	35	chr10	114162905	.	A	T	1736.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.730e-01;DP=867;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=1.44;SOR=0.677	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,111,1665	20	0	1	0
chr10	114226130	114226130	T	C	exonic	TDRD1	.	nonsynonymous SNV	TDRD1:NM_001385370:exon20:c.T2747C:p.I916T	.	.	432	1088	1	1	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	T	0.916	P	0.66	P	0.798	N	0.883	N	0.385	N	3.07	T	-1.111	T	0.020	T	0.152	0.187	5.007	4.88	1.098	0.534	9.401	0.083	0.00521737619606	.	0.000199681	4.119e-05	0	0	0.0001	0.0006	0	0	0	3.88e-05	6	154602	rs200920919	1.847e-05	1.847e-05	1.77e-05	1.925e-05	3.478e-05	1.265e-05	1.084e-05	9.24e-06	4.56e-06	2.987e-05	0	0	2.519e-05	0.0003	0	6.295e-06	1.656e-05	3.478e-05	0.0001	0.0001	7.709e-05	0.0001	0.0002	7.087e-05	5.744e-05	5.843e-05	4.24e-05	0	0	0	0	0.0002	0.0008	0	0.0001	0	0	0.481	0.11442	T	0.163	0.31326	T	0.873	0.47975	P	0.372	0.43610	B	0.797627	0.09348	N	0.919097	0.882989	0.28016	N	0.135	0.08676	N	3.07	0.08547	T	-0.23	0.10656	N	0.178	0.19325	-1.1108	0.03002	T	0.020	0.08546	T	10	0.03159648	0.01296	T	0.005217	0.13310	T	0.083	0.24192	.	.	0.143184338766	0.13958	0.21045239142689207	0.20961	0.267114651535	0.29252	0.306709647179	0.11410	T	.	.	.	-0.442054	0.01258	T	-0.647054	0.09161	T	0.0342231653630733	0.02675	T	0.640736	0.27102	T	.	.	.	.	.	.	.	.	-2.821	0.08378	T	.	.	0.082	0.08657	B	.;.;.	.;.;.	1.401564	0.18154	13.58	0.75988799868588219	0.11289	0.11870	0.16914	N	AEFBI	0.066784	0.13095	N	-0.542177376897972	0.20729	1.094945	-0.499697151141374	0.22163	1.202416	3.84209417493885E-4	0.06781	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	6.01	4.88	0.63131	0.541000	0.22915	0.706000	0.20886	0.665000	0.62972	0.062000	0.21832	0.009000	0.19889	0.903000	0.43903	0.0:0.1422:0.0:0.8578	9.401	0.37596	896	0.25515	Tudor domain|Tudor domain|Tudor domain;.;Tudor domain|Tudor domain|Tudor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1220.98	33	chr10	114226130	.	T	C	1220.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.203e+00;DP=862;ExcessHet=0.0000;FS=0.673;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.77;ReadPosRankSum=1.21;SOR=0.594	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr10	114228042	114228042	A	T	exonic	TDRD1	.	nonsynonymous SNV	TDRD1:NM_001385370:exon23:c.A3113T:p.E1038V	.	.	579	942	1	0	0	1	0.000530504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.922	D	0.007	N	0.620	N	1.995	M	2.77	T	-0.986	T	0.107	T	0.368	3.180	16.64	5.73	2.170	4.271	10.494	0.113	0.0121808332746	0.0002	0.000199681	0.0005	0	9.651e-05	0	0	0.0003	0.0012	0.0021	0.0003428	53	154602	rs201463872	0.0002	0.0002	0.0002	0.0003	0.0022	0.0002	0.0002	0.0020	0.0019	3.007e-05	0.0002	0.0036	2.522e-05	0	0.0005	2.522e-05	0.0005	0.0022	0.0002	0.0002	0.0001	0.0002	0.0025	0.0001	9.692e-05	0.0014	0.0011	0	0	0	0.0023	0	0	0	5.88e-05	0.0005	0.0025	0.425	0.68238	T	0.004	0.74150	D	0.996	0.68779	D	0.856	0.61001	P	0.007239	0.31521	N	0.318924	0.999982	0.30791	N	2.215	0.62545	M	2.71	0.12162	T	-1.93	0.66549	N	0.355	0.39659	-0.9855	0.33711	T	0.107	0.39051	T	10	0.014011502	0.00295	T	0.012181	0.30521	T	0.113	0.31778	.	.	0.269682111328	0.26585	0.2409419024017593	0.24008	0.808772558786	0.66638	0.334747463465	0.15650	T	.	.	.	-0.448428	0.01154	T	-0.42277	0.30759	T	0.13150568462755	0.15520	T	0.754025	0.37642	T	.	.	.	.	.	.	.	.	-5.321	0.40150	T	.	.	0.268	0.50241	B	.;.;.	.;.;.	3.796244	0.54670	23.5	0.99101460059766799	0.52471	0.90463	0.51660	D	AEBI	0.459617	0.51015	N	0.558086687077969	0.70576	5.521808	0.584066601775411	0.73799	6.029707	0.00465077307217206	0.10654	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.73	5.73	0.89730	4.283000	0.58770	9.293000	0.79808	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.8556:0.0:0.0:0.1444	10.494	0.43953	894	0.26265	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2840.98	34	chr10	114228042	.	A	T	2840.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.472e+00;DP=892;ExcessHet=0.0000;FS=4.038;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=-1.735e+00;SOR=0.458	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1148	20	0	1	0
chr10	114255010	114255010	A	T	exonic	VWA2	.	nonsynonymous SNV	VWA2:NM_001272046:exon4:c.A223T:p.I75F	.	.	431	1083	8	0	0	8	0.00367985	.	.	723782	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.19	T	0.947	P	0.439	B	0.877	N	0.743	D	2.36	M	-1.74	D	-0.558	T	0.106	T	0.337	3.995	20.5	-0.389	-0.071	-0.575	5.075	0.450	.	0.0003	0.013778	0.0096	0.0005	0.0368	0.0548	0.0160	0.0020	0.0078	0.0007	0.0086545	1338	154602	rs75028145	0.0033	0.0033	0.0035	0.0030	0.0483	0.0032	0.0032	0.0465	0.0458	0.0007	0.0295	0.0024	0.0483	0.0168	0.0004	0.0002	0.0040	0.0011	0.0054	0.0054	0.0046	0.0062	0.0540	0.0051	0.0049	0.0488	0.0468	0.0006	0	0.0177	0.0032	0.0540	0.0157	0	0.0006	0.0066	0.0019	0.223	0.18757	T	0.08	0.41913	T	0.947	0.53479	P	0.439	0.45685	B	0.877040	0.07211	N	1.055100	0.742667	0.33840	D	2.235	0.63160	M	-1.74	0.83413	D	-1.44	0.35399	N	0.41	0.45047	-0.5583	0.66469	T	0.106	0.38783	T	10	0.0033477843	0.00058	T	.	.	.	0.450	0.75074	.	.	.	.	0.42154765605563477	0.42070	.	.	0.27176630497	0.06373	T	0.088432	0.38156	T	-0.384518	0.02916	T	-0.278774	0.46930	T	0.0372307897526938	0.03197	T	0.738826	0.35731	T	0.21362944	0.43746	0.22648315	0.47628	0.21362944	0.43746	0.22648315	0.47627	-9.468	0.70660	D	0.2175417729178618	0.29281	0.210	0.43801	B	.	.	1.360791	0.17698	13.32	0.9854396474447461	0.42757	0.11892	0.16928	N	AEFGI	0.082789	0.16767	N	-0.293594131032781	0.29394	1.629702	-0.373127945094249	0.25801	1.421153	0.662758766936296	0.22289	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	6.17	-0.389	0.11835	-0.504000	0.06456	-0.203000	0.10926	-0.078000	0.16268	0.045000	0.21207	0.000000	0.08366	0.990000	0.65344	0.5149:0.2686:0.2165:0.0	5.075	0.13963	911	0.21964	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2788.98	37	chr10	114255010	.	A	T	2788.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.69;DP=871;ExcessHet=0.0000;FS=0.568;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.21;ReadPosRankSum=-3.870e-01;SOR=0.755	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1184	20	0	1	0
chr10	114289393	114289393	-	GGAGGCTTG	exonic	VWA2	.	nonframeshift insertion	VWA2:NM_001272046:exon12:c.2026_2027insGGAGGCTTG:p.L678_A679insGRL	.	.	431	1085	6	0	0	6	0.00275735	.	.	3199472	VWA2-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0068	0.00259585	0.0058	0.0011	0.0089	0	0.0006	0.0080	0.0066	0.0025	0.0018442	48	26028	rs553439419	0.0080	0.0080	0.0082	0.0077	0.0093	0.0078	0.0078	0.0090	0.0090	0.0010	0.0093	0.0043	0	0.0009	0.0073	0.0092	0.0089	0.0031	0.0062	0.0062	0.0062	0.0062	0.0111	0.0058	0.0057	0.0097	0.0092	0.0016	0.0066	0.0111	0.0046	0	0.0004	0	0.0095	0.0114	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1710.94	38	chr10	114289393	.	C	CGGAGGCTTG	1710.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.13;DP=824;ExcessHet=0.0000;FS=1.554;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.41;ReadPosRankSum=1.49;SOR=0.897	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1413	20	0	1	0
chr10	114290299	114290299	G	C	exonic	VWA2	.	nonsynonymous SNV	VWA2:NM_001272046:exon13:c.G2182C:p.V728L	.	.	437	1079	6	0	0	6	0.00277264	.	.	712176	VWA2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.51	T	0.819	P	0.272	B	0.065	N	0.980	D	.	.	-3.0	D	-0.363	T	0.431	T	0.251	1.433	10.73	-1.47	-0.137	0.312	10.348	0.283	0.0479908215589	.	0.00119808	0.0032	0.0011	0	0	0.0017	0.0068	0.0052	0.0014	0.0012225	189	154602	rs45560935	0.0071	0.0068	0.0072	0.0070	0.0084	0.0070	0.0070	0.0082	0.0082	0.0009	0.0030	0.0077	2.798e-05	0.0012	0.0032	0.0084	0.0065	0.0018	0.0042	0.0042	0.0045	0.0039	0.0073	0.0039	0.0038	0.0067	0.0065	0.0012	0	0.0033	0.0049	0	0.0010	0	0.0073	0.0052	0.0010	0.062	0.36912	T	0.08	0.41913	T	0.819	0.45682	P	0.272	0.39956	B	0.065105	0.21904	N	0.461364	0.999974	0.18612	N	1.425	0.35738	L	-3.0	0.92158	D	-0.77	0.21429	N	0.235	0.26475	-0.3627	0.73183	T	0.431	0.77258	T	9	0.010863394	0.00240	T	0.047991	0.63174	D	0.283	0.60100	.	.	0.256283259241	0.25257	0.5600709737082584	0.55934	.	.	0.328970015049	0.14778	T	0.133824	0.46473	T	-0.332222	0.05945	T	-0.243451	0.50462	T	0.00259579810364478	0.00027	T	0.643636	0.25529	T	0.06709533	0.14499	0.08920413	0.20845	0.06709533	0.14498	0.08920413	0.20844	-3.533	0.16897	T	0.206353611543292	0.27553	0.118	0.24088	B	.	.	0.803261	0.11738	8.316	0.91708217591352614	0.21002	0.22141	0.21645	N	AEFDGBCI	0.294190	0.40463	N	-0.884419530040341	0.11212	0.5398869	-0.998199850672625	0.09825	0.491107	0.0831568253700793	0.15920	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.65	-1.47	0.08312	0.330000	0.19460	-1.448000	0.05416	-0.667000	0.04321	0.023000	0.19925	0.000000	0.08366	0.431000	0.27472	0.5818:0.0:0.4182:0.0	10.348	0.43102	628	0.65206	EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	CTB-1144G6.6	Nerve_Tibial	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1048.98	38	chr10	114290299	.	G	C	1048.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.050e-01;DP=819;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=0.859;SOR=0.649	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1347	20	0	1	0
chr10	114300208	114300208	C	T	exonic	AFAP1L2	.	nonsynonymous SNV	AFAP1L2:NM_001351075:exon14:c.G1694A:p.R565H	.	.	430	1091	1	0	0	1	0.000458085	.	.	2351032	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.29	T	0.995	D	0.751	P	0.330	N	1.000	N	1.245	L	2.55	T	-1.033	T	0.039	T	0.268	1.800	11.98	-0.127	0.158	0.126	7.58	0.016	0.0176723711768	7.7e-05	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs200106844	0.0002	0.0002	0.0002	0.0001	4.317e-05	0.0001	0.0001	3.343e-05	2.956e-05	0	0	0.0060	0	0	0	4.317e-05	0.0003	0	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	4.764e-05	3.338e-05	7.237e-05	0	0	0.0061	0	0	0	0.0001	0	0	0.336	0.12878	T	0.396	0.15206	T	0.927	0.54824	P	0.255	0.45685	B	0.329834	0.14132	N	0.676108	1	0.08975	N	1.1	0.28011	L	2.55	0.13795	T	-0.31	0.12099	N	0.26	0.29429	-1.0334	0.19363	T	0.039	0.16677	T	10	0.0050830543	0.00110	T	0.017672	0.39460	T	0.016	0.02506	.	.	0.376393476264	0.37247	0.08914069102995853	0.08847	0.362757554275	0.37925	0.339117199183	0.16306	T	0.012943	0.11287	T	-0.392759	0.02582	T	-0.610265	0.11964	T	0.0303428496439218	0.02043	T	0.851815	0.53646	D	0.033107333	0.03464	0.026690416	0.00773	0.033107333	0.03464	0.026690416	0.00773	-5.715	0.44835	T	.	.	0.122	0.33596	B	.;.	.;.	1.419713	0.18362	13.69	0.97316602681403719	0.33356	0.03628	0.08870	N	AEFGBI	0.054035	0.09790	N	-0.598458809061723	0.18992	0.990488	-0.7330634636545	0.16139	0.8523689	0.920721216933447	0.26644	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.24	-0.127	0.12851	-0.010000	0.12681	2.071000	0.30443	0.599000	0.40250	0.000000	0.06391	0.065000	0.22112	0.116000	0.19000	0.0:0.4653:0.0:0.5347	7.58	0.27126	700	0.57880	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	911.98	35	chr10	114300208	.	C	T	911.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.372e+00;DP=756;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.72;ReadPosRankSum=0.342;SOR=0.805	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1270	20	0	1	0
chr10	114331870	114331870	T	C	exonic	AFAP1L2	.	nonsynonymous SNV	AFAP1L2:NM_001001936:exon4:c.A248G:p.N83S	.	.	420	1059	41	2	0	45	0.0208044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	1.0	D	0.998	D	0.000	D	0.999	D	1.78	L	2.49	T	-0.993	T	0.114	T	0.091	2.448	14.14	5.54	2.103	5.373	12.068	0.136	.	0.0053	0.00419329	0.0090	0.0023	0.0063	0	0.0294	0.0132	0.0192	0.0048	0.0031565	488	154602	rs117043677	0.0088	0.0082	0.0088	0.0087	0.0176	0.0086	0.0086	0.0146	0.0134	0.0021	0.0045	0.0056	7.213e-05	0.0030	0.0176	0.0099	0.0066	0.0021	0.0064	0.0064	0.0065	0.0062	0.0100	0.0060	0.0059	0.0094	0.0091	0.0017	0.0143	0.0086	0.0046	0	0.0026	0.0238	0.0100	0.0066	0.0017	0.059	0.38863	T	0.227	0.29056	T	0.997	0.73220	D	0.907	0.69900	P	0.000000	0.84330	D	0.000000	0.897706	0.45546	D	1.97	0.53315	M	2.49	0.31731	T	-2.34	0.59389	N	0.435	0.47395	-0.9934	0.31722	T	0.114	0.40627	T	10	0.00788334	0.00179	T	.	.	.	0.136	0.36778	.	.	0.669146814614	0.66635	0.17211749457620923	0.17131	0.55852647441	0.52429	0.340973377228	0.16584	T	0.046384	0.27407	T	-0.558505	0.00259	T	-0.562056	0.16183	T	0.0378108095653916	0.03299	T	0.908009	0.67517	D	0.12749922	0.29834	0.14220662	0.33838	0.12749922	0.29833	0.14220662	0.33837	-3.628	0.18263	T	.	.	0.077	0.07318	B	.;.;.	.;.;.	3.368263	0.46533	22.3	0.99761281516818268	0.85091	0.93304	0.57859	D	AEFBI	0.670598	0.63763	D	0.496838579485369	0.66906	5.011049	0.46006540659986	0.65365	4.814691	0.999933972118583	0.46732	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.54	5.54	0.82907	4.974000	0.63486	6.142000	0.54067	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.287000	0.24188	0.0:0.0:0.0:1.0	12.068	0.52897	914	0.21048	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	824.98	37	chr10	114331870	.	T	C	824.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=889;ExcessHet=0.0000;FS=10.470;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.71;ReadPosRankSum=0.090;SOR=2.120	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr10	114843033	114843033	G	A	exonic	FAM160B1	.	nonsynonymous SNV	FAM160B1:NM_001135051:exon6:c.G623A:p.R208H	.	.	436	1076	10	0	0	10	0.00462535	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.001	B	0.345	N	1.000	N	0.205	N	2.52	T	-0.994	T	0.015	T	0.062	-0.111	3.457	-7.75	-1.679	-1.034	2.707	0.007	0.00272994570803	0.0002	0.000998403	0.0004	9.666e-05	0.0004	0	0	9.005e-05	0.0011	0.0023	0.0004463	69	154602	rs151031745	0.0003	0.0003	0.0003	0.0004	0.0059	0.0003	0.0003	0.0043	0.0038	2.987e-05	0.0004	0	0	0	0.0059	0.0002	0.0004	0.0022	0.0002	0.0002	0.0002	0.0002	0.0019	0.0001	0.0001	0.0010	0.0007	2.407e-05	0	0.0009	0	0	0	0.0034	8.82e-05	0.0005	0.0019	0.203	0.20154	T	0.151	0.32355	T	0.0	0.02946	B	0.0	0.04355	B	0.344917	0.04210	N	1.324280	1	0.08975	N	0	0.06538	N	2.52	0.14160	T	-0.3	0.11913	N	0.039	0.01274	-0.9941	0.31538	T	0.015	0.06186	T	10	0.005342692	0.00117	T	0.00273	0.05637	T	0.007	0.00512	.	.	0.082315109003	0.07666	0.18821935924863914	0.18739	0.314280072756	0.33708	0.168758511543	0.00027	T	0.015023	0.12680	T	-0.737782	0.00021	T	-0.839813	0.01101	T	0.0157142469501603	0.00363	T	0.0747925	0.00547	T	0.015205828	0.00127	0.021272546	0.00184	0.015205828	0.00127	0.021272546	0.00184	-3.416	0.15354	T	.	.	0.059	0.00949	B	.;.	.;.	-0.494320	0.01885	0.155	0.86896197040864231	0.16847	0.04044	0.09486	N	AEFBI	0.032865	0.03791	N	-1.90776820801714	0.00331	0.0142151	-1.96065958643693	0.00370	0.01633535	0.952250728751617	0.28005	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.54	-7.75	0.01099	-1.001000	0.03800	-0.652000	0.08023	-2.640000	0.00225	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2121:0.0709:0.4166:0.3003	2.707	0.04844	926	0.17793	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1396.98	37	chr10	114843033	.	G	A	1396.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.330;DP=818;ExcessHet=0.0000;FS=0.707;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=1.63;SOR=0.578	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr10	114843794	114843794	G	C	exonic	FAM160B1	.	nonsynonymous SNV	FAM160B1:NM_001135051:exon7:c.G870C:p.L290F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.996	D	0.000	D	1.000	D	2.215	M	1.14	T	-0.795	T	0.191	T	0.918	3.583	18.25	3.5	1.243	1.761	10.083	0.382	0.0173601911742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.049	0.57587	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999984	0.54805	D	2.835	0.82492	M	1.14	0.38397	T	-3.06	0.63090	D	0.838	0.83371	-0.7954	0.55415	T	0.191	0.54345	T	10	0.91353416	0.90717	D	0.01736	0.39027	T	0.382	0.69946	0.796	0.91657	0.248133497653	0.24425	0.611043452488678	0.61036	0.944440780139	0.72360	0.68622469902	0.65162	T	0.23652	0.60401	T	0.231773	0.76887	D	0.0951501	0.76587	D	0.98065297524046	0.73477	D	0.944805	0.79065	D	0.25616938	0.48655	0.2083563	0.45134	0.25616938	0.48655	0.2083563	0.45133	-9.628	0.72188	D	.	.	0.884	0.81715	P	.;.	.;.	3.770863	0.54161	23.5	0.99892491037754727	0.96589	0.97421	0.74643	D	AEFBI	0.394079	0.47148	N	0.494664052619514	0.66777	4.99426	0.427617215727367	0.63292	4.560032	0.0220720276217538	0.13402	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.39	3.5	0.39181	1.808000	0.38550	3.520000	0.38893	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.216:0.0:0.784:0.0	10.083	0.41574	926	0.17793	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1338.98	40	chr10	114843794	.	G	C	1338.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.160e+00;DP=830;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=1.49;SOR=0.676	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1274	20	0	1	0
chr10	115847889	115847889	C	G	exonic	ATRNL1	.	nonsynonymous SNV	ATRNL1:NM_207303:exon28:c.C3916G:p.P1306A,	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.999	D	0.991	D	0.000	D	1.000	D	1.775	L	0.85	T	-0.584	T	0.287	T	0.628	3.825	19.43	5.57	2.622	6.798	19.542	0.352	0.0180793231555	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.375e-06	1.368e-06	1.368e-06	1.381e-06	9.042e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.042e-07	1.664e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.34621	T	0.11	0.37310	T	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.053450	0.999783	0.50225	D	2.235	0.63160	M	0.85	0.47130	T	-5.4	0.85103	D	0.733	0.73375	-0.5839	0.65463	T	0.287	0.65841	T	10	0.78630996	0.78277	D	0.018079	0.40021	T	0.352	0.67326	0.558	0.67684	0.437144778361	0.43335	0.7639150037431048	0.76339	0.381961745973	0.39540	0.615199923515	0.55051	T	0.308614	0.68070	T	-0.00736586	0.50634	T	-0.248357	0.49978	T	0.953501641750336	0.64042	D	0.969003	0.88824	D	0.22891748	0.45620	0.4499071	0.67984	0.22891748	0.45620	0.4499071	0.67984	-3.045	0.10674	T	.	.	0.546	0.66596	A	.	.	4.162615	0.62525	24.5	0.99399531747528969	0.62748	0.97603	0.75838	D	AEFI	0.787494	0.71726	D	0.723388919640252	0.81165	7.458883	0.711034864401431	0.83215	7.964054	0.999999997490514	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.57	5.57	0.84021	6.904000	0.75530	7.609000	0.61840	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	0.0:1.0:0.0:0.0	19.542	0.95273	674	0.60593	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1481.98	36	chr10	115847889	.	C	G	1481.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.352;DP=855;ExcessHet=0.0000;FS=0.621;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.95;ReadPosRankSum=-1.593e+00;SOR=0.608	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1251	20	0	1	0
chr10	116436824	116436824	C	T	exonic	PNLIPRP3	.	nonsynonymous SNV	PNLIPRP3:NM_001011709:exon2:c.C163T:p.R55C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.985	D	0.058	N	0.983	D	3.34	M	-2.94	D	0.881	D	0.875	D	0.581	3.193	16.69	3.64	1.201	0.881	8.080	0.639	0.123240508347	.	.	3.311e-05	0	0	0	0	3.006e-05	0	0.0001	2.59e-05	4	154602	rs768796683	2.395e-05	2.394e-05	1.089e-05	3.714e-05	0.0002	1.739e-05	1.539e-05	0.0002	0.0001	0	6.714e-05	0	0	0	0	9.896e-06	0	0.0002	2.631e-05	2.628e-05	3.857e-05	1.347e-05	5.883e-05	8.15e-06	5.14e-06	1.973e-05	1.125e-05	0	0	0	0	0	0	0	5.883e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.985	0.76457	D	0.057803	0.22451	N	0.358876	0.98286	0.39943	D	3.56	0.93364	H	-2.94	0.91851	D	-6.01	0.89648	D	0.553	0.57860	0.881	0.95412	D	0.875	0.95834	D	10	0.7385014	0.74790	D	0.123241	0.80438	D	0.639	0.86232	0.76	0.88892	0.903135738198	0.90217	0.6149724938734733	0.61429	0.303466672426	0.32673	0.420527875423	0.27908	T	0.571756	0.85832	D	-0.0607567	0.42788	T	-0.0247253	0.68718	D	0.835122554847999	0.48934	D	0.824718	0.48674	T	0.51190144	0.67790	0.45834228	0.68528	0.51190144	0.67791	0.45834228	0.68528	-9.944	0.73576	D	.	.	0.136	0.29588	B	.	.	4.054969	0.60130	24.2	0.9986933096553271	0.94726	0.12118	0.17071	N	AEFBI	0.123970	0.23982	N	0.256483111468	0.53960	3.562926	0.0968954460439058	0.44393	2.721864	0.999319170337052	0.39113	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.56	3.64	0.40864	0.936000	0.28536	0.938000	0.22831	-0.224000	0.07868	0.002000	0.15269	0.313000	0.24283	0.931000	0.46843	0.1619:0.7508:0.0:0.0873	8.080	0.29899	794	0.45591	Lipase/vitellogenin|Lipase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1636.98	33	chr10	116436824	.	C	T	1636.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.15;DP=839;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=-1.246e+00;SOR=0.728	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1194	20	0	1	0
chr10	116597866	116597866	G	A	exonic	PNLIPRP1	.	nonsynonymous SNV	PNLIPRP1:NM_001303135:exon7:c.G613A:p.E205K	.	.	.	.	.	.	.	.	.	.	.	2772804	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.5	T	0.94	P	0.798	P	0.005	N	1.000	D	1.55	L	-2.74	D	0.221	D	0.708	D	0.542	2.951	15.84	5.01	2.484	2.067	11.045	0.493	0.0496467518725	.	.	0.0001	9.61e-05	0	0	0	2.997e-05	0.0033	0.0006	0.0001035	16	154602	rs782187986	7.251e-05	7.251e-05	3.948e-05	0.0001	0.0008	6.114e-05	5.699e-05	0.0007	0.0006	0	0	0	0	0	0	2.608e-05	8.279e-05	0.0008	1.971e-05	1.97e-05	0	4.034e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	0	0	0.0006	0.316	0.13744	T	0.85	0.19421	T	0.94	0.52768	P	0.798	0.58097	P	0.005030	0.33162	N	0.215603	0.834942	0.34976	D	1.25	0.31749	L	-2.74	0.90735	D	-2.53	0.55339	D	0.272	0.31140	0.221	0.86269	D	0.708	0.89966	D	10	0.10933983	0.20392	T	0.049647	0.63902	D	0.493	0.77910	0.512	0.61000	0.86862714507	0.86734	0.5680053342377415	0.56728	0.0522162305088	0.05745	0.408251941204	0.26215	T	0.302894	0.76816	T	-0.216143	0.18522	T	-0.156055	0.58706	T	0.164982731159837	0.18232	T	0.810419	0.46414	T	0.516077	0.68033	0.36304104	0.61698	0.516077	0.68034	0.36304104	0.61697	-4.765	0.34180	T	.	.	0.068	0.14979	B	.;.;.;.;.	.;.;.;.;.	3.277214	0.44887	22.0	0.99762231585129202	0.85172	0.38028	0.25895	N	AEFDHCI	0.643225	0.61991	D	0.203695301125046	0.51377	3.319526	0.177458744852194	0.48615	3.074999	0.999730241746679	0.42341	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.01	5.01	0.66477	0.708000	0.25393	6.671000	0.56279	0.676000	0.76740	0.000000	0.06391	1.000000	0.68203	0.970000	0.54328	0.0874:0.0:0.9126:0.0	11.045	0.47070	626	0.65439	Lipase/vitellogenin|Lipase, N-terminal;Lipase/vitellogenin|Lipase, N-terminal;Lipase/vitellogenin;Lipase/vitellogenin;Lipase/vitellogenin|Lipase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1634.98	42	chr10	116597866	.	G	A	1634.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.006e+00;DP=1276;ExcessHet=0.0000;FS=0.668;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-2.100e-01;SOR=0.596	GT:AD:DP:GQ:PL	0/0:85,0:85:99:0,120,1800	20	0	1	0
chr10	116849675	116849675	G	T	exonic	ENO4	.	stopgain	ENO4:NM_001242699:exon1:c.G109T:p.E37X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	6.702	38	4.88	2.415	5.674	15.309	.	.	.	.	0.0002	0	0	0	0	0	0	0.0003	1.94e-05	3	154602	rs769289614	5.009e-06	5.472e-06	2.824e-06	7.255e-06	7.582e-05	2.08e-06	1.34e-06	3.219e-05	2.185e-05	0	0	0	0	0	0	9.271e-07	0	7.582e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.402	0.44283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.447655	0.92377	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.	.;High;.	9.716768	0.99245	42	0.99694766009806213	0.80180	0.87060	0.46488	D	ALL	0.087599	0.17761	N	1.05866267486128	0.97290	15.88335	0.896417728169408	0.95414	13.59955	0.999999999988984	0.74766	0.56387	0.32371	0	0.484254	0.07192	0	0.47417	0.07244	0	0.618803	0.45993	0	.	.	4.88	4.88	0.63131	5.627000	0.67460	11.651000	0.93884	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	15.309	0.73720	604	0.67577	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1374.98	36	chr10	116849675	.	G	T	1374.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.800e-01;DP=781;ExcessHet=0.0000;FS=0.817;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.28;ReadPosRankSum=0.911;SOR=0.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1197	20	0	1	0
chr10	116849676	116849676	A	T	exonic	ENO4	.	nonsynonymous SNV	ENO4:NM_001242699:exon1:c.A110T:p.E37V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.045	M	-0.54	T	0.497	D	0.666	D	0.747	4.382	23.2	4.88	1.956	5.377	12.302	0.586	0.560892834617	.	.	0.0002	0	0	0	0	0	0	0.0003	1.94e-05	3	154602	rs774862348	5.009e-06	5.472e-06	2.824e-06	7.255e-06	7.583e-05	2.08e-06	1.34e-06	3.219e-05	2.185e-05	0	0	0	0	0	0	9.271e-07	0	7.583e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.119	0.92824	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.950867	0.37714	D	2.255	0.64187	M	-1.55	0.81727	D	0.3	0.76094	N	0.546	0.74098	0.497	0.90507	D	0.666	0.88429	D	10	0.73480844	0.74546	D	0.560893	0.95991	D	0.586	0.83416	0.346	0.34112	0.767995865156	0.76587	0.7463072351390088	0.74576	.	.	0.534007668495	0.43599	T	0.22358	0.58777	T	0.0837166	0.62474	D	0.0794481	0.75540	D	0.795965373516083	0.46082	D	0.846715	0.52677	T	0.5089215	0.67617	0.35726517	0.61224	0.5089215	0.67618	0.35726517	0.61223	-4.708	0.76669	T	.	.	0.669	0.81672	P	.;.;.	.;.;.	5.481524	0.91382	32	0.99278519116820407	0.57834	0.85771	0.44941	D	ALL	0.604695	0.59569	D	0.641924545479751	0.75848	6.378882	0.605065065570085	0.75308	6.287428	0.999999999893709	0.74766	0.56387	0.32371	0	0.484254	0.07192	0	0.47417	0.07244	0	0.618803	0.45993	0	.	.	4.88	4.88	0.63131	5.246000	0.65232	11.045000	0.85225	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	12.302	0.54203	604	0.67577	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1374.98	36	chr10	116849676	.	A	T	1374.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.942e+00;DP=779;ExcessHet=0.0000;FS=0.817;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.28;ReadPosRankSum=0.972;SOR=0.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1197	20	0	1	0
chr10	117197673	117197673	T	C	exonic	KCNK18	.	nonsynonymous SNV	KCNK18:NM_181840:exon1:c.T185C:p.L62S,	.	.	412	1109	1	0	0	1	0.000450653	.	.	1431201	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.19	T	0.944	P	0.523	P	0.003	N	1.000	N	0.975	L	2.17	T	-1.078	T	0.048	T	0.765	3.082	16.29	4.27	2.153	3.383	11.651	0.204	0.0076744775964	.	.	4.962e-05	0	0.0004	0	0	1.503e-05	0	0	3.88e-05	6	154602	rs753262034	2.189e-05	2.189e-05	2.722e-05	1.65e-05	0.0007	1.584e-05	1.356e-05	0.0005	0.0004	0	0.0007	0	0	0	0	1.799e-06	0	0	1.315e-05	1.313e-05	1.285e-05	1.346e-05	6.547e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	6.547e-05	0	0	0	0	0	0	0	0.001	0.78490	D	0.004	0.74150	D	0.944	0.53183	P	0.523	0.48316	P	0.003071	0.35480	N	0.176999	0.999813	0.20249	N	1.79	0.46772	L	2.17	0.19020	T	-2.06	0.47175	N	0.617	0.63289	-1.0777	0.07801	T	0.048	0.20315	T	10	0.56633765	0.65071	D	0.007674	0.20352	T	0.204	0.49076	0.616	0.75000	0.487701854612	0.48403	0.663403665954034	0.66277	0.318806332412	0.34097	0.508586704731	0.40024	T	0.186221	0.53944	T	-0.250522	0.14034	T	-0.215666	0.53153	T	0.236112028995633	0.22240	T	0.446155	0.12501	T	0.17367041	0.38129	0.20845546	0.45148	0.17367041	0.38128	0.20845546	0.45147	-2.854	0.08691	T	.	.	0.345	0.56218	A	.	.	4.223804	0.63913	24.6	0.99656298880353478	0.77631	0.74959	0.36683	D	AEFDBI	0.142550	0.26502	N	0.00274066321671305	0.41980	2.520881	-0.0522068302754752	0.37394	2.188929	0.0632421796428056	0.15289	0.500041	0.20204	0	0.59043	0.45803	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	4.27	4.27	0.50009	3.067000	0.49706	5.830000	0.50156	0.665000	0.62972	0.994000	0.38300	1.000000	0.68203	0.424000	0.27317	0.0:0.0:0.0:1.0	11.651	0.50548	730	0.54327	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	818.98	36	chr10	117197673	.	T	C	818.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.710e+00;DP=784;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.75;ReadPosRankSum=1.62;SOR=0.603	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1226	20	0	1	0
chr10	117209504	117209504	-	T	exonic	KCNK18	.	frameshift insertion	KCNK18:NM_181840:exon3:c.361dupT:p.Y121Lfs*44,	.	.	417	1090	14	1	0	16	0.00728597	.	.	227335	Migraine,_with_or_without_aura,_susceptibility_to,_13|not_provided	MONDO:MONDO:0013344,MedGen:C4225479,OMIM:613656|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	0.00319489	0.0028	0.0001	0.0005	0.0029	0	9.194e-05	0.0033	0.0178	0.002335	361	154602	rs1085307076	0.0015	0.0015	0.0009	0.0021	0.0193	0.0014	0.0014	0.0186	0.0182	8.962e-05	0.0004	0	0.0085	0	0.0019	4.497e-05	0.0017	0.0193	0.0008	0.0008	0.0004	0.0012	0.0195	0.0007	0.0006	0.0163	0.0152	7.22e-05	0	0.0003	0	0.0021	0	0	4.41e-05	0.0014	0.0195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2935.94	41	chr10	117209504	.	C	CT	2935.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.64;DP=975;ExcessHet=0.0000;FS=7.919;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.248;SOR=1.113	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr10	117341050	117341050	C	T	exonic	PDZD8	.	nonsynonymous SNV	PDZD8:NM_173791:exon2:c.G925A:p.E309K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.104	B	0.024	B	0.101	N	0.919	D	1.04	L	-1.98	D	-0.339	T	0.434	T	0.463	2.178	13.24	5.68	2.837	2.613	15.630	0.304	0.111422988151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.33585	T	0.284	0.21411	T	0.104	0.25941	B	0.024	0.20255	B	0.100580	0.19880	N	0.530412	0.918501	0.36608	D	1.04	0.26193	L	-1.98	0.85247	D	-0.39	0.13611	N	0.56	0.58458	-0.3391	0.73870	T	0.434	0.77478	T	10	0.2526929	0.42627	T	0.111423	0.78920	D	0.304	0.62510	0.426	0.47185	0.406687239423	0.40287	0.3484412965450981	0.34758	0.878990842918	0.69697	0.551437139511	0.46060	T	0.004486	0.03887	T	0.0534098	0.58780	T	-0.161057	0.58257	T	0.401935211681401	0.29015	T	0.631737	0.24648	T	0.12929	0.30201	0.1091909	0.26311	0.12929	0.30201	0.1091909	0.26311	-4.196	0.26694	T	.	.	0.138	0.30103	B	.	.	2.876239	0.38048	20.6	0.99707916019332055	0.81143	0.81768	0.41106	D	AEFBI	0.402723	0.47670	N	-0.00176634886459942	0.41776	2.504867	0.196643706894966	0.49661	3.166775	0.999999995606444	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	2.759000	0.47253	7.612000	0.61951	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.630	0.76655	723	0.55174	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	3789.59	132	chr10	117341050	.	C	T	3789.59	.	AC=10;AF=0.357;AN=28;BaseQRankSum=-3.850e+00;DP=2047;ExcessHet=6.1002;FS=296.226;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.464;MQ=60.00;MQRankSum=0.00;QD=2.96;ReadPosRankSum=1.38;SOR=10.499	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:58,0:58:0:.:.:0,0,1175	4	0	10	7
chr10	118336373	118336373	C	T	exonic	FAM204A	.	nonsynonymous SNV	FAM204A:NM_001134672:exon2:c.G43A:p.A15T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.501	P	0.062	B	0.248	N	1.000	N	0.345	N	.	.	-1.065	T	0.041	T	0.071	1.496	10.95	-1.6	-0.179	0.148	11.177	0.205	0.00632246015218	.	.	1.656e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs765376062	1.437e-05	1.437e-05	1.771e-05	1.101e-05	1.8e-05	9.24e-06	7.84e-06	1.175e-05	9.55e-06	0	0	0	0	0	0	1.8e-05	0	1.16e-05	3.29e-05	3.285e-05	1.286e-05	5.39e-05	7.253e-05	1.262e-05	7.99e-06	1.923e-05	1.033e-05	7.253e-05	0	6.563e-05	0	0	0	0	1.47e-05	0	0	0.022	0.52492	D	0.037	0.54159	D	0.501	0.37169	P	0.062	0.26930	B	0.247884	0.15572	N	0.633028	1	0.08975	N	0	0.06538	N	.	.	.	-0.07	0.08033	N	0.059	0.03069	-1.0646	0.10642	T	0.041	0.17700	T	9	0.05672142	0.06401	T	0.006322	0.16610	T	0.205	0.49236	0.102	0.01589	0.0482279557977	0.04254	0.40897796532580216	0.40813	0.211961697235	0.23693	0.26521062851	0.05527	T	0.029674	0.21209	T	-0.266819	0.12114	T	-0.621043	0.11105	T	0.0795878937593602	0.09934	T	0.692631	0.30204	T	0.042350654	0.06407	0.06701561	0.13805	0.042350654	0.06407	0.06701561	0.13805	-2.632	0.06750	T	.	.	0.066	0.02399	B	.;.;.	.;.;.	2.025197	0.25739	16.87	0.93976475013754801	0.24054	0.37953	0.25878	N	AEFBI	0.036275	0.04807	N	-0.750294266246002	0.14624	0.73011	-0.736247108598667	0.16062	0.8478576	0.151196247893007	0.17443	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.93	-1.6	0.07977	0.121000	0.15496	-0.096000	0.11999	-0.182000	0.10109	0.965000	0.33920	0.000000	0.08366	0.750000	0.35786	0.0:0.4777:0.0:0.5223	11.177	0.47830	775	0.48401	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	165.89	34	chr10	118336373	.	C	T	165.89	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.780e+00;DP=1286;ExcessHet=0.3300;FS=275.458;InbreedingCoeff=-0.0815;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.57;ReadPosRankSum=0.185;SOR=9.541	GT:AD:DP:GQ:PL	0/0:88,0:88:82:0,82,1975	18	0	3	0
chr10	118691288	118691288	T	A	exonic	CACUL1	.	nonsynonymous SNV	CACUL1:NM_153810:exon7:c.A1002T:p.E334D,	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.007	B	0.004	B	0.000	D	1.000	D	0.345	N	-1.17	T	-0.935	T	0.197	T	0.256	2.402	13.99	0.962	0.518	0.839	6.642	0.225	0.0318111140075	.	.	1.661e-05	0	0	0.0001	0	1.502e-05	0	0	1.29e-05	2	154602	rs777492509	1.984e-05	1.984e-05	1.089e-05	2.889e-05	0.0002	1.392e-05	1.204e-05	0.0001	0.0001	0	0	0	0.0001	0	0.0002	5.397e-06	1.656e-05	0.0002	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.239	0.17761	T	0.134	0.34241	T	0.007	0.14184	B	0.004	0.10090	B	0.000000	0.84330	D	0.049835	0.999608	0.47795	D	0.695	0.17993	N	-1.17	0.78199	T	-0.88	0.23808	N	0.326	0.36674	-0.9350	0.43394	T	0.197	0.55129	T	10	0.113934696	0.21421	T	0.031811	0.53799	D	0.225	0.52323	0.416	0.45544	0.305926609036	0.30200	0.6087788196422214	0.60809	0.310517131312	0.33367	0.640804290771	0.58679	T	0.058224	0.30783	T	-0.263705	0.12470	T	-0.316246	0.42984	T	0.078059288964762	0.09737	T	0.756024	0.37907	T	0.1335744	0.31064	0.12740986	0.30671	0.1335744	0.31064	0.12740986	0.30670	-4.153	0.26068	T	.	.	0.089	0.12132	B	.	.	2.039937	0.25929	16.94	0.98604562863045264	0.43559	0.93516	0.58430	D	AEFDGBI	0.346499	0.44129	N	-0.440859111220908	0.24050	1.295936	-0.267855218730286	0.29163	1.631756	0.949874333951446	0.27867	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.97	0.962	0.18763	0.857000	0.27486	0.758000	0.21291	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.299:0.1308:0.5702	6.642	0.22104	353	0.85335	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	900.98	36	chr10	118691288	.	T	A	900.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.790e-01;DP=796;ExcessHet=0.0000;FS=2.670;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.39;ReadPosRankSum=-1.000e-01;SOR=0.849	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1142	20	0	1	0
chr10	118754453	118754453	C	G	exonic	CACUL1	.	nonsynonymous SNV	CACUL1:NM_153810:exon1:c.G310C:p.A104P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.567	P	0.086	B	0.750	N	1.000	N	0.55	N	.	.	-1.085	T	0.052	T	0.427	3.074	16.26	3.8	1.106	2.699	11.26	0.087	0.0280393219046	.	.	.	.	.	.	.	.	.	.	.	.	.	rs751752914	2.783e-06	4.104e-06	1.381e-06	4.206e-06	0.0002	6.5e-07	4.4e-07	7.3e-07	2e-07	0	0	0	0	0	0.0002	2.724e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.084	0.41239	T	0.567	0.38485	P	0.086	0.29521	B	0.749615	0.09711	N	0.876384	1	0.81001	D	1.04	0.26193	L	.	.	.	-0.52	0.16187	N	0.265	0.30004	-1.0845	0.06498	T	0.052	0.22269	T	8	0.15994063	0.30038	T	0.028039	0.50772	D	0.087	0.25287	0.356	0.35734	0.082315109003	0.07666	0.4367056953390529	0.43587	0.496345723792	0.48149	0.559044003487	0.47134	T	0.030914	0.21799	T	0.0989925	0.64183	D	-0.0955806	0.63737	T	0.479781925678253	0.31889	T	0.637336	0.25103	T	0.24398005	0.47343	0.45843777	0.68534	0.24398005	0.47343	0.45843777	0.68534	-3.548	0.17110	T	.	.	0.085	0.10400	B	.	.	3.019788	0.40410	21.2	0.99492074326234325	0.67516	0.74590	0.36492	D	ALL	0.420169	0.48710	N	-0.103587479357698	0.37237	2.163494	0.0151424008811577	0.40417	2.411717	0.999999999976233	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.47417	0.07244	0	0.372554	0.06265	0	.	.	4.71	3.8	0.42887	2.011000	0.40542	2.550000	0.33259	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.9144:0.0:0.0856	11.26	0.48310	442	0.79946	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1792.98	34	chr10	118754453	.	C	G	1792.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.516e+00;DP=845;ExcessHet=0.0000;FS=3.148;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.28;ReadPosRankSum=-2.480e-01;SOR=0.889	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1358	20	0	1	0
chr10	119042585	119042585	G	A	exonic	EIF3A	.	nonsynonymous SNV	EIF3A:NM_003750:exon19:c.C2935T:p.R979C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.647	P	0.091	B	0.003	N	1.000	D	2.69	M	1.7	T	-0.961	T	0.076	T	0.619	2.229	13.41	4.25	1.606	1.610	14.790	0.186	0.0794602146487	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs757331563	1.505e-05	1.505e-05	2.178e-05	8.25e-06	1.888e-05	9.85e-06	8.41e-06	1.213e-05	1.03e-05	0	0	0	0	1.872e-05	0	1.888e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.014	0.62352	D	0.032	0.20242	B	0.003	0.08700	B	0.003312	0.35125	N	0.000000	1	0.81001	D	2.42	0.70002	M	1.7	0.26885	T	-2.35	0.51968	N	0.552	0.57775	-0.9607	0.39050	T	0.076	0.30460	T	10	0.32077378	0.49448	T	0.07946	0.73239	D	0.186	0.46104	0.389	0.41115	0.276254252017	0.27237	0.24777115118659634	0.24691	1.64019717428	0.89359	0.649996876717	0.59986	T	0.215726	0.57769	T	-0.0459225	0.45065	T	-0.303741	0.44327	T	0.904583096504211	0.55809	D	0.961004	0.85375	D	0.11236938	0.26548	0.08763705	0.20384	0.11236938	0.26548	0.08763705	0.20383	-13.959	0.92923	D	.	.	0.470	0.64695	A	.;.	.;.	3.525414	0.49441	22.8	0.99824718729025341	0.90677	0.83594	0.42701	D	AEFBCI	0.349855	0.44350	N	-0.141855053787978	0.35583	2.045646	-0.0914035357435557	0.35745	2.071633	0.999501622408651	0.40062	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.17	4.25	0.49658	1.571000	0.36059	8.625000	0.77828	-0.153000	0.12021	0.996000	0.39380	1.000000	0.68203	0.141000	0.19983	0.0:0.0:0.5165:0.4835	14.790	0.69458	448	0.79501	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3411.98	33	chr10	119042585	.	G	A	3411.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.15;DP=947;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.28;ReadPosRankSum=0.595;SOR=0.680	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1220	20	0	1	0
chr10	119165545	119165545	C	T	exonic	SFXN4	.	nonsynonymous SNV	SFXN4:NM_213649:exon1:c.G103A:p.E35K,	Combined oxidative phosphorylation deficiency 18, Autosomal recessive	.	381	1120	19	2	0	23	0.0101635	.	.	2347668	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.929	P	0.435	B	0.211	N	1.000	N	0.55	N	1.39	T	-1.035	T	0.064	T	0.351	3.506	17.92	0.662	0.145	0.279	12.668	0.130	0.157050435121	7.7e-05	.	0.0001	0	0	0	0	8.044e-05	0.0012	0.0004	8.41e-05	13	154602	rs372672920	0.0001	0.0001	9.878e-05	0.0001	0.0016	8.899e-05	8.375e-05	0.0008	0.0006	0	4.743e-05	7.935e-05	0	0	0.0016	6.998e-05	0.0003	0.0005	0.0001	0.0001	0.0001	0.0001	0.0004	7.579e-05	6.283e-05	9.049e-05	7.013e-05	9.648e-05	0	0	0	0	0	0.0032	0.0002	0	0.0004	0.029	0.45756	D	0.063	0.45110	T	0.929	0.51690	P	0.435	0.45529	B	0.210870	0.16369	N	0.574289	1	0.08975	N	2.175	0.60977	M	1.39	0.33842	T	-2.02	0.46503	N	0.326	0.36674	-1.0349	0.18888	T	0.064	0.26420	T	10	0.13516244	0.25721	T	0.15705	0.83771	D	0.130	0.35528	.	.	0.243398259712	0.23965	0.3819189429750552	0.38106	0.774241338114	0.64942	0.565121591091	0.47989	T	0.083098	0.36976	T	-0.377941	0.03209	T	-0.446512	0.28083	T	0.0676171208650311	0.08312	T	0.592841	0.21881	T	0.39509577	0.60392	0.32366663	0.58297	0.51960593	0.68238	0.3662674	0.61959	-5.933	0.45716	T	.	.	0.174	0.38080	B	.	.	1.999558	0.25404	16.75	0.99415485706154727	0.63501	0.06565	0.12579	N	ALL	0.069066	0.13654	N	-0.748737879483786	0.14668	0.7325966	-0.886815717152656	0.12405	0.6379448	0.999999999995417	0.74766	0.72623	0.87236	0	0.504199	0.08210	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	3.68	0.662	0.17049	0.007000	0.13074	-0.168000	0.11254	-1.268000	0.01283	0.004000	0.16614	0.000000	0.08366	0.523000	0.29544	0.0:0.5285:0.4715:0.0	12.668	0.56219	750	0.51762	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	558.98	34	chr10	119165545	.	C	T	558.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.674e+00;DP=772;ExcessHet=0.0000;FS=1.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.32;ReadPosRankSum=1.46;SOR=0.515	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,992	20	0	1	0
chr10	119172416	119172416	C	A	exonic	PRDX3	.	nonsynonymous SNV	PRDX3:NM_001302272:exon5:c.G517T:p.G173C	.	.	431	1078	13	0	0	13	0.00599355	.	.	2809662	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.725	H	1.92	T	0.102	D	0.279	T	0.89	5.040	29.8	5.19	2.583	7.760	19.113	0.640	0.0344172456427	0.0070	0.00139776	0.0052	0.0016	0.0029	0	0.0017	0.0074	0.0055	0.0042	0.0052457	811	154602	rs11554923	0.0068	0.0068	0.0069	0.0068	0.0078	0.0067	0.0067	0.0077	0.0076	0.0011	0.0042	0.0047	2.519e-05	0.0017	0.0076	0.0078	0.0065	0.0045	0.0051	0.0051	0.0051	0.0050	0.0101	0.0048	0.0046	0.0088	0.0083	0.0012	0.0011	0.0101	0.0066	0	0.0010	0.0068	0.0073	0.0061	0.0039	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.95	0.99826	H	1.92	0.23082	T	-7.9	0.96191	D	0.838	0.83371	0.102	0.84209	D	0.279	0.65089	T	10	0.024121523	0.00653	T	0.034417	0.55661	D	0.640	0.86283	.	.	0.785827271255	0.78384	0.8953526697202191	0.89506	0.428384344672	0.43156	0.810923039913	0.83634	D	0.516345	0.83001	D	-0.0559381	0.43538	T	0.154834	0.80487	D	0.166894767751732	0.18366	T	0.975702	0.91457	D	0.948423	0.96106	0.87563336	0.93257	0.948423	0.96106	0.87563336	0.93258	-8.721	0.65883	D	.	.	0.489	0.64094	A	.	.	4.955172	0.81888	27.7	0.99714948005809856	0.81633	0.99567	0.97521	D	AEFDBI	0.947911	0.95899	D	1.09465179467534	0.98034	17.27989	0.968211406184773	0.97912	17.01693	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	7.847000	0.85186	4.018000	0.41224	0.530000	0.24713	1.000000	0.71638	0.994000	0.32194	0.992000	0.67800	0.0:1.0:0.0:0.0	19.113	0.93307	923	0.18507	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant|Thioredoxin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1627.98	34	chr10	119172416	.	C	A	1627.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.881;DP=816;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.80;ReadPosRankSum=-2.059e+00;SOR=0.721	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1278	20	0	1	0
chr10	119500192	119500192	T	G	exonic	RGS10	.	nonsynonymous SNV	RGS10:NM_001005339:exon5:c.A467C:p.K156T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.28	B	0.32	B	0.000	D	0.998	D	0.75	N	4.43	T	-0.756	T	0.009	T	0.584	1.135	9.627	3.51	0.449	2.977	10.750	0.181	0.017206204565	.	0.000199681	8.246e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs200276250	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	6.566e-06	6.562e-06	0	1.343e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.287	0.15149	T	0.324	0.22359	T	0.28	0.32073	B	0.303	0.41729	B	0.000013	0.62929	D	0.068155	0.979819	0.43985	D	2.045	0.56016	M	4.43	0.02158	T	0.26	0.04380	N	0.483	0.53620	-0.7562	0.57609	T	0.009	0.03096	T	10	0.09441623	0.16787	T	0.017206	0.38815	T	0.181	0.45247	.	.	0.246926113748	0.24311	0.7623894347742252	0.76186	1.07505341604	0.76932	0.548147797585	0.45597	T	0.160198	0.50394	T	-0.103626	0.35822	T	-0.386628	0.34946	T	0.59091579914093	0.36042	D	0.834817	0.50404	T	0.14332642	0.32945	0.06227343	0.12156	0.14332642	0.32945	0.06227343	0.12155	-4.697	0.66014	T	.	.	0.429	0.61135	A	.;.;.	.;.;.	2.793723	0.36732	20.3	0.92850047010860048	0.22389	0.90684	0.52066	D	AEFBI	0.523320	0.54697	D	-0.168133192005855	0.34466	1.967594	-0.0215080023919006	0.38744	2.287149	0.999974253027882	0.50053	0.744818	0.98587	0	0.732433	0.95613	0	0.693144	0.63139	0	0.633917	0.49826	0	.	.	5.91	3.51	0.39297	2.977000	0.48988	4.185000	0.42364	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1302:0.0:0.8698	10.750	0.45401	969	0.06854	.;RGS domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1108.98	34	chr10	119500192	.	T	G	1108.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.732e+00;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.21;ReadPosRankSum=-1.260e-01;SOR=0.716	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1022	20	0	1	0
chr10	119670071	119670071	C	G	exonic	BAG3	.	nonsynonymous SNV	BAG3:NM_004281:exon2:c.C401G:p.S134C,	Cardiomyopathy, dilated, 1HH, Autosomal dominant;Myopathy, myofibrillar, 6, Autosomal dominant	YES	0	1521	0	1	0	2	0.00065703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.004	B	0.004	B	0.000	D	0.967	D	0.805	L	-0.94	T	-0.603	T	0.301	T	0.267	3.736	18.97	4.57	1.296	2.921	16.360	0.189	0.0447048346944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.311e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.052	0.54541	T	0.004	0.12183	B	0.004	0.10090	B	0.000149	0.49130	D	0.216416	0.966553	0.38538	D	1.7	0.43825	L	-0.94	0.77466	T	-1.95	0.65742	N	0.216	0.24135	-0.6029	0.64697	T	0.301	0.67251	T	10	0.14242002	0.27052	T	0.044705	0.61621	D	0.189	0.46613	0.181	0.08877	0.685048319655	0.68235	0.3663915645473311	0.36553	0.0751094415851	0.08427	0.380569845438	0.22337	T	0.211382	0.57213	T	-0.0200863	0.48842	T	-0.266629	0.48159	T	0.580213536666316	0.35627	D	0.613539	0.23774	T	0.15434465	0.34938	0.14171591	0.33739	0.15434465	0.34938	0.14171591	0.33738	-5.762	0.44242	T	0.5338731966932068	0.60438	0.097	0.25100	B	.;.	.;.	3.713478	0.53031	23.3	0.99280019675447118	0.57869	0.61435	0.31483	D	AEFDBCI	0.399305	0.47464	N	-0.371360193235478	0.26494	1.446405	-0.247368788255165	0.29862	1.676533	0.999999999427683	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.612816	0.40813	0	0.714379	0.83352	0	.	.	5.48	4.57	0.55860	4.798000	0.62203	5.931000	0.51320	0.594000	0.32500	0.604000	0.27780	1.000000	0.68203	0.740000	0.35438	0.0:0.868:0.1319:0.0	16.360	0.83092	898	0.25240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1323.98	34	chr10	119670071	.	C	G	1323.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.671;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.58;ReadPosRankSum=0.844;SOR=0.634	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1195	20	0	1	0
chr10	119796747	119796747	G	A	exonic	INPP5F	.	nonsynonymous SNV	INPP5F:NM_014937:exon7:c.G702A:p.M234I,	.	.	425	1086	10	1	0	12	0.00549451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.002	N	1.000	D	-1.955	N	0.61	T	-0.959	T	0.011	T	0.052	-0.038	3.821	-0.228	-0.331	-0.001	7.779	0.074	.	0.0076	0.00319489	0.0062	0.0019	0.0041	0.0001	0.0042	0.0095	0.0077	0.0009	0.0062871	972	154602	rs34239637	0.0082	0.0083	0.0084	0.0080	0.0098	0.0081	0.0081	0.0096	0.0095	0.0014	0.0049	0.0043	0	0.0036	0.0043	0.0098	0.0079	0.0012	0.0064	0.0064	0.0069	0.0058	0.0103	0.0060	0.0059	0.0097	0.0094	0.0019	0.0055	0.0086	0.0046	0	0.0017	0.0136	0.0103	0.0062	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.001898	0.37740	N	0.316403	0.502122	0.31750	D	-1.86	0.00260	N	0.61	0.53516	T	2.06	0.00379	N	0.247	0.27910	-0.9588	0.39405	T	0.011	0.04321	T	10	0.005298704	0.00116	T	.	.	.	0.074	0.21613	0.435	0.48664	0.0986583533028	0.09354	0.24951003347931272	0.24865	0.140751882377	0.15877	0.473517119884	0.35165	T	0.140908	0.47570	T	-0.638141	0.00085	T	-0.679034	0.07043	T	0.000663455303258933	0.00006	T	0.808019	0.56350	T	0.043542735	0.06805	0.0601865	0.11420	0.043542735	0.06805	0.0601865	0.11419	0.555	0.00202	T	.	.	0.099	0.16494	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.054691	0.04672	1.321	0.65318453901849693	0.07739	0.68304	0.33751	D	AEFDBI	0.076075	0.15296	N	-1.15945336700963	0.05626	0.2569728	-0.888584798854169	0.12364	0.635556	6.53460180504768E-4	0.07551	0.706298	0.61202	0	0.653731	0.59785	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.8	-0.228	0.12452	0.015000	0.13250	-1.643000	0.05000	-0.140000	0.12423	0.929000	0.32243	0.000000	0.08366	0.995000	0.73285	0.0:0.6238:0.1517:0.2245	7.779	0.28216	454	0.79125	SAC domain|SAC domain;.;SAC domain|SAC domain;.;.;.;.	.	.	.	.	rs34239637	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1162.98	33	chr10	119796747	.	G	A	1162.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.180e-01;DP=808;ExcessHet=0.0000;FS=3.481;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.48;ReadPosRankSum=0.545;SOR=1.030	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1278	20	0	1	0
chr10	119820851	119820851	T	C	exonic	INPP5F	.	nonsynonymous SNV	INPP5F:NM_001243194:exon2:c.T62C:p.I21T	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.009	B	0.01	B	0.068	N	1.000	D	1.1	L	1.12	T	-1.066	T	0.077	T	0.155	2.214	13.36	0.278	0.023	2.114	8.959	0.032	0.00770279112698	0.0004	.	0.0001	9.612e-05	0	0	0	0.0002	0	0	0.0001035	16	154602	rs143847485	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0003	0.0002	9e-05	2.236e-05	0	0	1.872e-05	0	0.0003	0.0002	3.483e-05	0.0001	0.0001	0.0002	8.066e-05	0.0003	7.575e-05	6.28e-05	0.0002	0.0001	0	0	0	0	0	0	0	0.0003	0	0	0.338	0.16903	T	0.425	0.40747	T	0.001	0.07471	B	0.003	0.08700	B	0.068305	0.21681	N	0.516807	0.995924	0.42925	D	1.61	0.41143	L	1.12	0.48460	T	0.3	0.30762	N	0.435	0.47395	-1.0657	0.10386	T	0.077	0.30951	T	10	0.07210681	0.10720	T	0.007703	0.20431	T	0.032	0.07718	.	.	0.267299060538	0.26338	0.5117399583613493	0.51095	0.163648037258	0.18455	0.635355770588	0.57904	T	0.091782	0.38867	T	-0.404758	0.02154	T	-0.513206	0.20986	T	0.0433019213378429	0.04293	T	0.843016	0.56114	T	0.092300355	0.21651	0.099205665	0.23679	0.092300355	0.21650	0.099205665	0.23678	-3.402	0.40347	T	.	.	0.061	0.14477	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.231642	0.28490	17.81	0.94899610257887979	0.25751	0.88487	0.48437	D	AEFGBI	0.091122	0.18459	N	-0.509687326367129	0.21766	1.157509	-0.366447126261547	0.26005	1.433649	0.999895321631482	0.45129	0.706298	0.61202	0	0.708844	0.79440	0	0.662677	0.59975	0	0.613276	0.41899	0	.	.	5.68	0.278	0.14925	2.103000	0.41430	0.157000	0.15360	0.605000	0.46263	0.994000	0.38300	0.392000	0.24668	1.000000	0.97212	0.0:0.3481:0.0:0.6519	8.959	0.34995	545	0.72614	hSac2 domain;.;hSac2 domain;.;.;.;.;.;.;hSac2 domain;hSac2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1237.98	34	chr10	119820851	.	T	C	1237.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.210;DP=831;ExcessHet=0.0000;FS=1.447;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.32;ReadPosRankSum=-1.549e+00;SOR=0.846	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1364	20	0	1	0
chr10	119827217	119827217	G	A	exonic	INPP5F	.	nonsynonymous SNV	INPP5F:NM_001243194:exon6:c.G1006A:p.V336I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.001	B	0.001	B	0.066	N	1.000	N	-0.69	N	1.2	T	-1.027	T	0.027	T	0.018	-1.874	0.008	-2.19	0.165	1.289	2.470	0.032	0.00295309655747	.	.	1.648e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs780648966	1.915e-05	1.984e-05	1.906e-05	1.925e-05	0.0003	1.328e-05	1.144e-05	6.094e-05	2.522e-05	8.961e-05	2.236e-05	0	0	1.875e-05	0.0003	1.888e-05	0	0	5.258e-05	5.254e-05	8.993e-05	1.346e-05	0.0002	2.558e-05	1.831e-05	6.285e-05	4.301e-05	0.0001	0	0	0	0	0	0	1.47e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.0	0.01387	B	0.065670	0.21864	N	0.517808	1	0.08975	N	-1.06	0.01056	N	1.2	0.42502	T	0.02	0.06739	N	0.026	0.00527	-1.0267	0.21527	T	0.027	0.11707	T	10	0.021770805	0.00528	T	0.002953	0.06280	T	0.032	0.07718	0.18	0.08751	0.0551355673512	0.04727	0.09803205582843473	0.09734	0.101771959714	0.11512	0.272640764713	0.06487	T	0.085119	0.37431	T	-0.567694	0.00228	T	-0.773795	0.02646	T	0.0169519523255341	0.00446	T	0.582942	0.21167	T	0.02437035	0.01261	0.020463783	0.00138	0.02437035	0.01261	0.020463783	0.00137	-2.361	0.08406	T	.	.	0.060	0.01534	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.503176	0.08720	5.496	0.63230340608475766	0.07169	0.08204	0.14162	N	AEFDGBCI	0.048630	0.08319	N	-1.32520682690599	0.03389	0.1513066	-1.27090406104342	0.04829	0.2287179	0.995363952253946	0.34087	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.92	-2.19	0.06621	1.317000	0.33237	0.644000	0.20348	-0.063000	0.16611	0.021000	0.19753	0.002000	0.18203	0.607000	0.31564	0.2706:0.1552:0.4238:0.1504	2.470	0.04282	557	0.71576	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2204.98	34	chr10	119827217	.	G	A	2204.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.06;DP=808;ExcessHet=0.0000;FS=2.417;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.22;ReadPosRankSum=0.724;SOR=0.468	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1102	20	0	1	0
chr10	119898610	119898610	C	T	exonic	SEC23IP	.	nonsynonymous SNV	SEC23IP:NM_007190:exon2:c.C347T:p.P116L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.597	P	0.17	B	0.007	N	1.000	D	1.935	M	-4.22	D	0.580	D	0.828	D	0.208	0.783	8.131	3.38	0.608	2.677	9.979	0.371	0.360723041768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.788e-06	4.788e-06	6.806e-06	2.75e-06	6.295e-06	1.99e-06	1.28e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.295e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.007	0.76473	D	0.597	0.39250	P	0.17	0.35299	B	0.007147	0.31570	N	0.384533	0.999855	0.81001	D	2.005	0.54552	M	-4.22	0.96982	D	-1.29	0.32387	N	0.334	0.37923	0.580	0.91634	D	0.828	0.94235	D	10	0.2735638	0.44905	T	0.360723	0.92504	D	0.371	0.69016	0.333	0.32005	0.912962115397	0.91208	0.27030273939201377	0.26943	0.221362004363	0.24674	0.312347084284	0.12261	T	0.40053	0.75808	T	0.101942	0.64502	D	-0.0913442	0.64060	T	0.452049851417542	0.30872	T	0.787921	0.42712	T	0.0801805	0.18358	0.058510453	0.10825	0.0801805	0.18357	0.058510453	0.10825	-6.554	0.50701	T	.	.	0.079	0.15475	B	.;.	.;.	2.249612	0.28733	17.89	0.91908927066633339	0.21230	0.90217	0.51220	D	AEFDGBI	0.229536	0.35304	N	-0.294738313430947	0.29350	1.626879	-0.322126076228474	0.27385	1.519204	0.99997629237225	0.50053	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.23	3.38	0.37806	4.359000	0.59223	2.426000	0.32709	-0.174000	0.10959	0.960000	0.33603	0.946000	0.28899	0.043000	0.14563	0.139:0.7893:0.0:0.0716	9.979	0.40976	631	0.64944	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2468.98	33	chr10	119898610	.	C	T	2468.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.57;DP=871;ExcessHet=0.0000;FS=1.154;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.64;ReadPosRankSum=-1.940e-01;SOR=0.767	GT:AD:DP:GQ:PL	0/1:93,88:181:99:2483,0,2532	20	0	1	0
chr10	119898750	119898750	C	G	exonic	SEC23IP	.	nonsynonymous SNV	SEC23IP:NM_007190:exon2:c.C487G:p.L163V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.104	B	0.062	B	0.000	D	1.000	D	1.61	L	-4.25	D	0.479	D	0.815	D	0.101	0.944	8.847	4.65	1.342	3.173	14.037	0.336	0.120769286184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.03e-05	0.0002	1.093e-05	9.654e-06	1.174e-05	6.18e-06	4.9e-06	6.55e-06	5.05e-06	0	0	0	0	0	0	1.174e-05	3.32e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.556	0.06461	T	0.821	0.12246	T	0.104	0.25941	B	0.062	0.26930	B	0.000005	0.62929	D	0.107180	1	0.81001	D	1.78	0.46185	L	-4.25	0.97054	D	0.01	0.06868	N	0.207	0.22998	0.479	0.90252	D	0.815	0.93762	D	10	0.15099514	0.28548	T	0.120769	0.80138	D	0.336	0.65816	0.186	0.09517	0.849074084723	0.84762	0.11778504863915601	0.11705	0.144110295782	0.16271	0.353825509548	0.18484	T	0.091547	0.38818	T	0.043976	0.57564	T	-0.174608	0.57021	T	0.556831955909729	0.34735	D	0.738826	0.35731	T	0.14919165	0.34025	0.09147891	0.21510	0.14919165	0.34024	0.09147891	0.21510	-3.167	0.12082	T	.	.	0.071	0.05274	B	.;.	.;.	1.155811	0.15440	11.85	0.95415677836796886	0.26887	0.98451	0.82913	D	AEFGBI	0.532298	0.55222	D	-0.292483383673774	0.29436	1.632456	-0.16913862766753	0.32679	1.861587	0.999999898467037	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	4.65	0.57626	2.670000	0.46499	2.509000	0.33065	0.599000	0.40250	1.000000	0.71638	0.997000	0.33255	0.518000	0.29429	0.0:0.9277:0.0:0.0723	14.037	0.64172	631	0.64944	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	44.77	122	chr10	119898750	.	C	G	44.77	.	AC=2;AF=0.100;AN=20;BaseQRankSum=-4.517e+00;DP=2787;ExcessHet=0.1072;FS=257.260;InbreedingCoeff=-0.2250;MLEAC=3;MLEAF=0.150;MQ=60.00;MQRankSum=0.00;QD=0.13;ReadPosRankSum=0.497;SOR=10.061	GT:AD:DP:GQ:PL	./.:131,0:131:0:0,0,2664	8	0	2	11
chr10	119902934	119902934	G	A	exonic	SEC23IP	.	nonsynonymous SNV	SEC23IP:NM_007190:exon3:c.G832A:p.E278K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.673	P	0.165	B	0.000	D	0.980	D	2.19	M	1.46	T	-0.593	T	0.271	T	0.489	2.667	14.88	4.35	1.350	3.679	9.824	0.152	0.0213962699172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.661	0.04928	T	0.648	0.06788	T	0.439	0.35873	B	0.165	0.35019	B	0.000020	0.62929	D	0.155985	0.980208	0.39642	D	1.295	0.32453	L	1.39	0.44856	T	-1.07	0.28290	N	0.304	0.47395	-0.5929	0.65105	T	0.271	0.64245	T	10	0.1990219	0.35895	T	0.021396	0.44162	T	0.152	0.39956	0.559	0.67821	0.33110744837	0.32714	0.4621577481362075	0.46133	0.140664995966	0.15865	0.511516749859	0.40435	T	0.238581	0.60651	T	-0.100745	0.36302	T	-0.38249	0.35432	T	0.702032446861267	0.40816	D	0.862614	0.67748	D	0.10228448	0.24167	0.116941646	0.28230	0.10228448	0.24167	0.116941646	0.28229	-11.012	0.79724	D	.	.	0.103	0.43935	B	.;.;.	.;.;.	3.507656	0.49109	22.7	0.99689748740179673	0.79842	0.93777	0.59161	D	AEFBI	0.315967	0.42039	N	0.140566920596529	0.48364	3.049758	0.182775690773369	0.48902	3.10018	0.123718413685636	0.16942	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.25	4.35	0.51454	3.816000	0.55363	9.707000	0.81321	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0738:0.1393:0.7869:0.0	9.824	0.40067	730	0.54327	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1060.98	33	chr10	119902934	.	G	A	1060.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.881;DP=792;ExcessHet=0.0000;FS=0.834;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=-1.300e-01;SOR=0.706	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1187	20	0	1	0
chr10	120355103	120355103	C	A	exonic	RPL21	.	nonsynonymous SNV	RPL21:NM_000982:exon1:c.G81T:p.L27F,	Hypotrichosis 12, Autosomal dominant	.	253	1267	2	0	0	2	0.000788644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00599042	.	.	.	.	.	.	.	.	0.0018826	49	26028	rs568529073	0.0007	0.0006	0.0008	0.0006	0.0161	0.0006	0.0006	0.0146	0.0140	0.0161	0.0007	0	0	5.608e-05	0.0011	0.0001	0.0018	8.751e-05	0.0048	0.0050	0.0048	0.0049	0.0167	0.0045	0.0044	0.0157	0.0153	0.0167	0	0.0016	0	0	0	0.0034	0.0002	0.0034	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1248.98	34	chr10	120355103	.	C	A	1248.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.98;DP=763;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=48.01;MQRankSum=-1.368e+00;QD=17.35;ReadPosRankSum=0.299;SOR=1.059	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr10	122083842	122083842	G	T	exonic	TACC2	.	nonsynonymous SNV	TACC2:NM_001291876:exon4:c.G1342T:p.A448S	.	.	417	1089	16	0	0	16	0.00729262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.123	B	0.034	B	0.568	N	1.000	N	0.895	L	3.84	T	-0.944	T	0.006	T	0.062	2.527	14.41	-3.99	-0.285	0.055	1.930	0.024	.	0.0042	0.00279553	0.0043	0.0009	0.0019	0	0.0020	0.0058	0.0121	0.0050	0.0044631	690	154602	rs77657275	0.0056	0.0056	0.0055	0.0057	0.0094	0.0055	0.0054	0.0074	0.0067	0.0008	0.0021	0.0115	5.038e-05	0.0015	0.0094	0.0062	0.0056	0.0050	0.0039	0.0039	0.0044	0.0035	0.0066	0.0037	0.0036	0.0061	0.0059	0.0010	0	0.0018	0.0089	0.0002	0.0015	0.0102	0.0066	0.0052	0.0044	0.006	0.63226	D	0.033	0.53072	D	0.123	0.26785	B	0.034	0.22546	B	0.568146	0.11266	N	0.724041	1	0.08975	N	1.79	0.46772	L	3.84	0.03863	T	-0.3	0.13035	N	0.155	0.19190	-0.9440	0.41976	T	0.006	0.01981	T	10	0.0035997927	0.00065	T	.	.	.	0.024	0.04979	.	.	0.329282125956	0.32538	0.07783770136316441	0.07719	0.117977574611	0.13280	0.289715051651	0.08881	T	0.014395	0.12263	T	-0.681297	0.00047	T	-0.745015	0.03683	T	0.0043738848235579	0.00047	T	0.69513	0.30552	T	0.081182115	0.18640	0.048901983	0.07361	0.081182115	0.18640	0.048901983	0.07360	-4.032	0.24281	T	.	.	0.129	0.27553	B	.;.;.;.;.	.;.;.;.;.	0.665888	0.10342	7.072	0.95008689206703223	0.25979	0.01772	0.05559	N	AEFDBI	.	.	.	-1.21397749902454	0.04796	0.217244	-1.29267036785511	0.04529	0.2138317	0.879684112285858	0.25592	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.09	-3.99	0.03798	0.130000	0.15676	.	.	-0.799000	0.03183	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.5136:0.1421:0.2003:0.144	1.930	0.03123	944	0.12746	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3434.11	41	chr10	122083842	.	G	T	3434.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.965;DP=1268;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.41;ReadPosRankSum=1.45;SOR=0.695	GT:AD:DP:GQ:PL	0/0:75,0:75:99:0,120,1800	19	0	2	0
chr10	122083955	122083955	C	A	exonic	TACC2	.	nonsynonymous SNV	TACC2:NM_001291876:exon4:c.C1455A:p.D485E	.	.	415	1056	46	5	0	56	0.0258303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.002	B	0.002	B	0.262	N	1.000	N	0	N	4.17	T	-0.928	T	0.004	T	0.019	1.850	12.15	2.09	1.165	0.385	4.328	0.089	.	0.0022	0.00299521	0.0037	0.0007	0.0031	0.0001	0.0003	0.0034	0.0055	0.0104	0.0034864	539	154602	rs145676536	0.0033	0.0033	0.0030	0.0036	0.0120	0.0033	0.0032	0.0097	0.0090	0.0004	0.0028	0.0007	7.557e-05	0.0005	0.0120	0.0032	0.0033	0.0098	0.0025	0.0025	0.0023	0.0026	0.0110	0.0023	0.0022	0.0087	0.0078	0.0007	0	0.0020	0.0003	0.0002	0.0005	0.0068	0.0035	0.0057	0.0110	0.008	0.58626	D	0.126	0.35205	T	0.002	0.09854	B	0.002	0.06944	B	0.262279	0.15291	N	0.547859	1	0.08975	N	0.345	0.11182	N	4.17	0.02815	T	-0.1	0.08495	N	0.031	0.02366	-0.9281	0.44415	T	0.004	0.01192	T	10	0.0039937794	0.00077	T	.	.	.	0.089	0.25827	0.104	0.01698	0.458734620958	0.45498	0.030146240398800345	0.02963	0.0937766726545	0.10591	0.249824970961	0.03749	T	0.015022	0.12680	T	-0.725202	0.00026	T	-0.807087	0.01731	T	0.00369449383288313	0.00039	T	0.534247	0.17838	T	0.067040615	0.14481	0.0355286	0.02821	0.067040615	0.14480	0.0355286	0.02820	-2.931	0.09457	T	.	.	0.182	0.39545	B	.;.;.;.;.	.;.;.;.;.	0.702582	0.10711	7.406	0.93754106037824991	0.23697	0.12649	0.17397	N	AEFDBI	.	.	.	-0.892877548156124	0.11010	0.529115	-0.868507421659128	0.12844	0.6630197	0.614784024267148	0.21834	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.13	2.09	0.26154	-0.185000	0.09679	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1566:0.5969:0.1531:0.0934	4.328	0.10488	944	0.12746	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2663.98	41	chr10	122083955	.	C	A	2663.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.76;DP=1235;ExcessHet=0.0000;FS=1.863;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.88;ReadPosRankSum=-7.410e-01;SOR=0.867	GT:AD:DP:GQ:PL	0/0:75,0:75:99:0,120,1800	20	0	1	0
chr10	122086749	122086749	G	A	exonic	TACC2	.	nonsynonymous SNV	TACC2:NM_001291876:exon4:c.G4249A:p.E1417K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.962	D	0.281	B	0.003	N	1.000	N	0.975	L	3.32	T	-1.067	T	0.017	T	0.754	3.630	18.46	5.27	2.452	3.033	10.034	0.132	0.0186057720762	.	.	8.25e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs766896829	2.052e-06	2.052e-06	2.723e-06	1.375e-06	2.236e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	2.236e-05	0	0	0	0	1.799e-06	0	0	6.572e-06	6.567e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.002	0.78490	D	0.033	0.72224	D	0.962	0.55554	D	0.281	0.40336	B	0.003392	0.35013	N	0.000000	1	0.81001	D	1.445	0.36358	L	3.21	0.07478	T	-0.81	0.23590	N	0.614	0.68950	-1.0671	0.10062	T	0.017	0.07187	T	10	0.24889034	0.42193	T	0.018606	0.40730	T	0.132	0.35948	.	.	0.40722173914	0.40337	0.18956104359433032	0.18874	0.519308033653	0.49757	0.496043801308	0.38277	T	0.020841	0.16335	T	-0.039976	0.45952	T	-0.212334	0.53471	T	0.73055237531662	0.42239	D	0.876912	0.58964	D	0.18089285	0.39233	0.13814719	0.33000	0.18089285	0.39233	0.13814719	0.32999	-5.15	0.38429	T	.	.	0.265	0.49979	B	.;.;.;.;.	.;.;.;.;.	4.869878	0.79763	27.2	0.99878983753610129	0.95572	0.73257	0.35836	D	AEFBI	.	.	.	0.307182636475658	0.56518	3.816501	0.382933636698877	0.60514	4.239689	0.99999856890867	0.74766	0.638212	0.43195	0	0.610034	0.51514	0	0.653264	0.51672	0	0.542086	0.14980	0	.	.	5.27	5.27	0.73797	3.600000	0.53805	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0927:0.0:0.9073:0.0	10.034	0.41288	943	0.12886	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1483.98	40	chr10	122086749	.	G	A	1483.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.957;DP=1233;ExcessHet=0.0000;FS=3.693;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.69;ReadPosRankSum=0.571;SOR=0.828	GT:AD:DP:GQ:PL	0/0:79,0:79:99:0,120,1800	20	0	1	0
chr10	122086963	122086963	C	T	exonic	TACC2	.	nonsynonymous SNV	TACC2:NM_001291876:exon4:c.C4463T:p.A1488V	.	.	.	.	.	.	.	.	.	.	.	3331274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.24	T	0.0	B	0.001	B	0.537	N	1.000	N	-0.55	N	4.34	T	-0.915	T	0.004	T	0.055	-0.567	1.443	-1.6	-0.232	-0.037	7.158	0.016	0.00559707736438	0.0004	.	3.307e-05	0.0003	0	0	0	1.505e-05	0	0	2.59e-05	4	154602	rs138712565	2.326e-05	2.326e-05	2.451e-05	2.2e-05	0.0005	1.674e-05	1.478e-05	0.0003	0.0003	0.0005	0.0001	0	0	0	0	3.597e-06	8.28e-05	2.319e-05	0.0001	0.0001	0.0002	0.0001	0.0004	9.147e-05	7.702e-05	0.0002	0.0002	0.0004	0	0.0004	0	0	0	0	0	0	0	1.0	0.00964	T	0.29	0.21011	T	0.0	0.02946	B	0.001	0.04355	B	0.537390	0.11573	N	0.657064	1	0.08975	N	-0.28	0.03718	N	4.32	0.02412	T	0.38	0.04022	N	0.047	0.10483	-0.9149	0.46233	T	0.004	0.01330	T	10	0.022665858	0.00572	T	0.005597	0.14469	T	0.016	0.02506	.	.	0.220303561663	0.21668	0.05350617009822025	0.05292	0.0985929584545	0.11141	0.288062512875	0.08640	T	0.017301	0.14140	T	-0.667742	0.00057	T	-0.85421	0.00908	T	0.00370555822409453	0.00039	T	0.675332	0.28377	T	0.02317718	0.01036	0.037224036	0.03330	0.02317718	0.01035	0.037224036	0.03330	-4.664	0.32965	T	.	.	0.092	0.13690	B	.;.;.;.;.	.;.;.;.;.	-0.485193	0.01914	0.160	0.085497361574996072	0.00069	0.00681	0.02921	N	AEFDBI	.	.	.	-1.22527053979283	0.04636	0.2096504	-1.21670528543324	0.05640	0.2693394	0.99995518465088	0.48110	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.24	-1.6	0.07977	-0.290000	0.08390	.	.	0.589000	0.31548	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.5912:0.1893:0.2195	7.158	0.24823	943	0.12886	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1406.98	40	chr10	122086963	.	C	T	1406.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.000e-03;DP=1267;ExcessHet=0.0000;FS=1.474;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=0.076;SOR=0.877	GT:AD:DP:GQ:PL	0/0:91,0:91:99:0,120,1800	20	0	1	0
chr10	122088726	122088726	G	A	exonic	TACC2	.	nonsynonymous SNV	TACC2:NM_001291877:exon5:c.G5708A:p.R1903H,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	.	.	1.000	N	.	.	3.84	T	-0.912	T	0.006	T	0.021	1.976	12.56	-8.21	-1.777	-0.816	8.146	0.011	0.00128890229891	.	0.000599042	0.0008	0	0	0	0	0	0	0.0015	0.0001035	16	154602	rs531213162	9.782e-05	9.919e-05	5.821e-05	0.0001	0.0013	8.438e-05	7.905e-05	0.0011	0.0010	0	0	0	0	2.48e-05	0	2.595e-05	8.628e-05	0.0013	8.537e-05	8.53e-05	7.71e-05	9.401e-05	0.0023	4.954e-05	3.96e-05	0.0013	0.0010	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0023	0.0	0.91255	D	0.145	0.33000	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	3.84	0.03675	T	-0.01	0.07155	N	0.077	0.05162	-0.9121	0.46594	T	0.006	0.02093	T	7	0.0048184693	0.00102	T	0.001289	0.01784	T	0.011	0.01250	0.325	0.30711	0.226586394389	0.22295	.	.	.	.	.	.	.	0.005032	0.04462	T	-0.704246	0.00034	T	-0.82491	0.01356	T	0.0280771751089587	0.01699	T	0.381662	0.09243	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	0.008547	0.04343	1.107	0.92286682758010596	0.21674	0.00048	0.00378	N	AEFGBI	0.018268	0.00541	N	-1.41753573710437	0.02484	0.1097844	-1.56727413386837	0.01859	0.08475982	0.999999996985526	0.74766	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	4.1	-8.21	0.00914	-0.706000	0.05149	.	.	-0.079000	0.16264	0.000000	0.06391	0.000000	0.08366	0.129000	0.19529	0.198:0.3704:0.4316:0.0	8.146	0.30271	944	0.12746	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	866.98	33	chr10	122088726	.	G	A	866.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.400e-02;DP=761;ExcessHet=0.0000;FS=3.634;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=0.721;SOR=0.342	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1094	20	0	1	0
chr10	122276833	122276833	C	T	exonic	BTBD16	.	nonsynonymous SNV	BTBD16:NM_001318189:exon3:c.C64T:p.R22W	.	.	.	.	.	.	.	.	.	.	.	2356088	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	0.544	N	2.25	M	1.24	T	-0.526	T	0.204	T	0.609	3.887	19.76	3.98	1.385	0.068	10.636	0.206	0.0556492213768	0.0008	0.000199681	0.0005	0.0003	0.0003	0	0	0.0008	0	0.0002	0.0004981	77	154602	rs147619675	0.0008	0.0008	0.0009	0.0008	0.0011	0.0008	0.0008	0.0010	0.0010	5.974e-05	0.0004	0	0	3.744e-05	0	0.0011	0.0006	0.0002	0.0005	0.0005	0.0007	0.0004	0.0009	0.0004	0.0004	0.0007	0.0007	0.0002	0	0.0007	0	0	0	0.0034	0.0009	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000083	0.51296	D	0.000000	0.544157	0.31388	N	2.545	0.74286	M	1.24	0.36691	T	-5.1	0.83027	D	0.698	0.70263	-0.5257	0.67703	T	0.204	0.56224	T	10	0.38565466	0.54520	T	0.055649	0.66314	D	0.206	0.49396	.	.	0.70969676289	0.70716	0.5020837778508499	0.50130	0.641525643221	0.57744	0.560316681862	0.47313	T	0.116004	0.43501	T	-0.286135	0.10027	T	-0.260494	0.48774	T	0.205646225380879	0.20723	T	0.889511	0.62170	D	0.7195486	0.79136	0.6930587	0.81933	0.7195486	0.79138	0.6930587	0.81934	-5.582	0.42628	T	.	.	0.294	0.52500	B	.	.	3.841036	0.55578	23.6	0.99924903133917553	0.98980	0.56438	0.30117	D	AEFGBI	0.325939	0.42737	N	0.488517024336442	0.66418	4.94757	0.416820880225287	0.62610	4.479612	0.99999700702164	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.9	3.98	0.45383	0.072000	0.14482	.	.	-0.181000	0.10308	0.993000	0.37899	0.050000	0.21810	0.970000	0.54328	0.1916:0.8084:0.0:0.0	10.636	0.44758	896	0.25515	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2508.98	35	chr10	122276833	.	C	T	2508.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.822;DP=1372;ExcessHet=0.0000;FS=1.633;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=0.849;SOR=0.811	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr10	122299034	122299034	G	A	exonic	BTBD16	.	nonsynonymous SNV	BTBD16:NM_001318189:exon9:c.G694A:p.E232K	.	.	424	1091	7	0	0	7	0.00319781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.983	D	0.000	N	0.983	D	2.175	M	2.18	T	-1.093	T	0.058	T	0.167	2.907	15.69	3.8	0.741	1.959	7.68	0.167	.	0.0045	0.00319489	0.0014	0.0130	0.0010	0	0	0.0004	0	0	0.0012807	198	154602	rs76567565	0.0006	0.0006	0.0007	0.0005	0.0111	0.0006	0.0005	0.0102	0.0098	0.0111	0.0008	0.0018	2.519e-05	0	0.0057	0.0003	0.0010	2.319e-05	0.0040	0.0041	0.0040	0.0041	0.0135	0.0038	0.0037	0.0126	0.0122	0.0135	0	0.0016	0.0017	0	0	0.0034	0.0002	0.0024	0.0002	0.005	0.63226	D	0.0	0.92824	D	1.0	0.90584	D	0.983	0.75793	D	0.000206	0.47681	N	0.133939	0.98253	0.39903	D	2.585	0.75554	M	2.18	0.18875	T	-2.04	0.46842	N	0.51	0.54147	-1.0935	0.04974	T	0.058	0.24465	T	10	0.009195805	0.00208	T	.	.	.	0.167	0.42761	.	.	0.463758542814	0.46003	0.5875637147894273	0.58686	0.63775699092	0.57515	0.482480585575	0.36398	T	0.024145	0.18301	T	-0.519405	0.00444	T	-0.507834	0.21539	T	0.0260243311556005	0.01409	T	0.765923	0.39354	T	0.1108792	0.26206	0.13244122	0.31782	0.1108792	0.26206	0.13244122	0.31781	-10.536	0.77054	D	.	.	0.124	0.26042	B	.	.	3.207486	0.43650	21.8	0.9988141745124951	0.95733	0.21260	0.21338	N	ALL	0.214889	0.34031	N	0.187518151645378	0.50600	3.248388	0.114897598843471	0.45310	2.796419	0.999999999998594	0.74766	0.693307	0.56506	0	0.596394	0.48810	0	0.658952	0.52864	0	0.56214	0.19341	0	.	.	5.66	3.8	0.42887	2.010000	0.40532	.	.	-0.153000	0.12021	0.986000	0.36153	1.000000	0.68203	0.527000	0.29637	0.0871:0.1653:0.7476:0.0	7.68	0.27674	939	0.14249	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1140.98	33	chr10	122299034	.	G	A	1140.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.192;DP=789;ExcessHet=0.0000;FS=1.676;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=1.57;SOR=0.559	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1198	20	0	1	0
chr10	122424224	122424224	C	T	exonic	PLEKHA1	.	nonsynonymous SNV	PLEKHA1:NM_001377252:exon7:c.C563T:p.P188L	.	.	475	1045	1	1	0	3	0.00143335	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.985	D	0.846	P	0.000	D	1.000	D	0.37	N	-1.28	T	-0.482	T	0.394	T	0.665	1.739	11.77	5.23	2.601	4.919	17.345	0.497	.	7.7e-05	0.00199681	0.0013	0.0002	0.0002	0	0	0	0	0.0091	0.0010543	163	154602	rs369346661	0.0005	0.0005	0.0003	0.0007	0.0081	0.0005	0.0005	0.0076	0.0074	3.202e-05	0	0	2.552e-05	0	0.0004	1.195e-05	0.0007	0.0081	0.0002	0.0002	0.0001	0.0003	0.0069	0.0002	0.0001	0.0049	0.0043	2.614e-05	0	7.364e-05	0	0	0	0	0	0	0.0069	0.722	0.03903	T	0.815	0.03933	T	0.3	0.32550	B	0.134	0.33146	B	0.000001	0.84330	D	0.098233	1	0.81001	D	0.96	0.23930	L	-1.28	0.79376	T	-2.01	0.51811	N	0.563	0.60071	-0.4818	0.69302	T	0.394	0.74728	T	10	0.01769185	0.00379	T	.	.	.	0.497	0.78163	.	.	0.755409305499	0.75319	0.41368089753433207	0.41284	1.11328925088	0.78107	0.838526129723	0.87870	D	0.591175	0.86759	D	-0.194207	0.21642	T	-0.0459096	0.67301	D	0.0583529300163201	0.06907	T	0.89741	0.65583	D	0.34864414	0.56961	0.15176828	0.35736	0.34864414	0.56961	0.15176828	0.35735	-10.847	0.79505	D	.	.	0.223	0.45458	B	.;.;.;.;.	.;.;.;.;.	4.677543	0.74826	26.2	0.78897379725711947	0.12501	0.96378	0.68846	D	AEFBI	0.613640	0.60125	D	0.0722204569686132	0.45171	2.778071	0.219036091592981	0.50903	3.277705	0.999918176705967	0.45857	0.732398	0.92422	0	0.670034	0.63936	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.23	5.23	0.72570	4.753000	0.61880	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.345	0.87195	934	0.15400	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	771.98	40	chr10	122424224	.	C	T	771.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.37;DP=925;ExcessHet=0.0000;FS=0.765;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.08;ReadPosRankSum=-5.750e-01;SOR=0.596	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	20	0	1	0
chr10	122429747	122429747	C	T	exonic	PLEKHA1	.	stopgain	PLEKHA1:NM_001377252:exon10:c.C880T:p.R294X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.002	N	1.000	D	.	.	.	.	.	.	.	.	.	6.366	37	5.71	2.861	4.609	15.680	.	.	.	0.000199681	8.238e-06	0	0	0.0001	0	0	0	0	1.29e-05	2	154602	rs200164610	6.84e-06	6.84e-06	5.445e-06	8.25e-06	2.519e-05	3.46e-06	2.52e-06	3.09e-06	2.24e-06	0	2.236e-05	0	2.519e-05	0	0	7.194e-06	0	0	6.568e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.002449	0.36537	N	0.280670	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.747	0.89689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.549807	0.95797	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;Recessive	High;.;High	9.260641	0.98689	40	0.99744377331733414	0.83778	0.98558	0.84076	D	AEFDGBI	0.073148	0.14621	N	0.920604061076864	0.92732	11.59563	0.814874069492518	0.90807	10.57835	0.999999988484297	0.74766	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.71	5.71	0.89031	4.842000	0.62530	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8637:0.1363:0.0	15.680	0.77113	944	0.12746	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2969.98	42	chr10	122429747	.	C	T	2969.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.88;DP=1058;ExcessHet=0.0000;FS=1.508;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.74;ReadPosRankSum=-1.328e+00;SOR=0.595	GT:AD:DP:GQ:PL	0/1:132,121:253:99:2984,0,3080	20	0	1	0
chr10	122589168	122589168	C	T	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_017579:exon16:c.C1978T:p.R660C	.	.	413	1098	10	1	0	12	0.00543478	.	.	701228	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.07	T	0.999	D	0.966	D	0.346	N	1.000	N	3.15	M	0.91	T	-0.958	T	0.061	T	0.092	0.246	5.330	-7.58	-1.908	-6.405	4.469	0.069	.	0.0007	0.0153754	0.0094	0.0014	0.0237	0.0629	0.0002	0.0002	0.0023	0.0182	0.0083311	1288	154602	rs2277237	0.0034	0.0034	0.0031	0.0037	0.0577	0.0033	0.0033	0.0557	0.0549	0.0007	0.0212	0	0.0577	0.0001	0.0014	0.0001	0.0050	0.0158	0.0043	0.0045	0.0034	0.0053	0.0586	0.0040	0.0039	0.0529	0.0507	0.0008	0	0.0144	0.0006	0.0586	0.0001	0	0.0002	0.0034	0.0201	0.053	0.38863	T	0.056	0.47581	T	0.999	0.77913	D	0.966	0.71341	D	0.346431	0.13884	N	0.628298	1	0.08975	N	2.95	0.84923	M	0.91	0.44856	T	-2.13	0.50666	N	0.289	0.32701	-0.9578	0.39589	T	0.061	0.25383	T	10	0.010686815	0.00237	T	.	.	.	0.069	0.20116	.	.	0.422524665647	0.41870	0.39274479383976457	0.39189	0.0662238468404	0.07386	0.522718131542	0.42009	T	0.189602	0.54388	T	-0.660801	0.00062	T	-0.677181	0.07157	T	0.0541249352766777	0.06210	T	0.238576	0.05837	T	0.057915565	0.11586	0.069629125	0.14694	0.057915565	0.11585	0.069629125	0.14694	-10.531	0.77077	D	.	.	0.541	0.69624	A	.;.;.;.;.	.;.;.;.;.	0.902079	0.12763	9.279	0.75470117659225089	0.11087	0.02508	0.07000	N	AEFBI	0.253850	0.37327	N	-1.42925389935304	0.02385	0.1052549	-1.69951357191706	0.01139	0.05124193	0.999989247556836	0.51787	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.19	-7.58	0.01172	-6.642000	0.00072	.	.	-0.381000	0.05390	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.3782:0.2063:0.3461:0.0695	4.469	0.11122	809	0.43032	.;.;.;SRCR domain|SRCR domain|SRCR-like domain;SRCR domain|SRCR domain|SRCR-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2388.98	34	chr10	122589168	.	C	T	2388.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=1035;ExcessHet=0.0000;FS=0.912;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.40;ReadPosRankSum=0.610;SOR=0.736	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1243	20	0	1	0
chr10	122600066	122600066	T	C	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_004406:exon17:c.T1786C:p.S596P	.	.	422	1098	1	1	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.908	P	0.287	B	.	.	1.000	N	0.345	N	0.88	T	-1.054	T	0.043	T	0.142	-0.596	1.332	-2.36	-0.973	-6.693	2.551	0.032	.	.	0.0153754	6.658e-05	0.0002	8.787e-05	0	0	5.999e-05	0	6.115e-05	0.0008797	136	154602	rs200551848	6.689e-05	0.0009	6.31e-05	7.072e-05	0.0004	5.606e-05	5.194e-05	0.0002	0.0002	0.0002	0.0004	3.842e-05	0.0002	0	0.0004	3.069e-05	0.0001	0.0003	0.0015	0.0067	0.0014	0.0015	0.0030	0.0013	0.0012	0.0025	0.0023	0.0030	0.0011	0.0015	0.0003	0.0017	0.0007	0	0.0007	0.0010	0.0023	0.381	0.18757	T	0.201	0.27503	T	0.908	0.50127	P	0.287	0.40572	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.88	0.46028	T	-1.04	0.29114	N	0.237	0.26717	-1.0543	0.13225	T	0.043	0.18368	T	9	0.0056428015	0.00125	T	.	.	.	0.032	0.07718	.	.	0.249502417897	0.24576	0.10117281565848144	0.10048	0.0621019868724	0.06914	0.409637480974	0.26406	T	0.039658	0.25264	T	-0.485901	0.00684	T	-0.699071	0.05876	T	0.0112852624786041	0.00167	T	0.00413959	0.00049	T	0.059525542	0.12107	0.05336415	0.08975	0.059525542	0.12107	0.05336415	0.08975	-6.575	0.51092	T	.	.	0.129	0.27732	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.553014	0.01704	0.124	0.37962997346849098	0.02533	0.00166	0.00985	N	AEFBI	0.134162	0.25407	N	-1.67157950594998	0.00947	0.04104014	-1.80450548160185	0.00745	0.03319789	4.78350671228069E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.18	-2.36	0.06282	-7.096000	0.00056	.	.	-2.592000	0.00237	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1958:0.0:0.3025:0.5017	2.551	0.04460	776	0.48302	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	322.1	33	chr10	122600066	.	T	C	322.1	.	AC=2;AF=0.048;AN=42;DP=743;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.9990;MLEAC=2;MLEAF=0.048;MQ=39.78;QD=28.52;SOR=4.615	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	1	0	0
chr10	122601871	122601871	C	G	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_004406:exon19:c.C1921G:p.R641G	.	.	486	1035	0	1	0	2	0.000965251	.	.	2809722	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.43	T	0.148	B	0.104	B	0.695	N	1.000	N	0.015	N	1.71	T	-0.972	T	0.026	T	0.083	-1.990	0.007	0.019	-0.264	-3.174	3.401	0.051	0.00804736841086	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1014556750	0.0004	0.0004	0.0003	0.0004	0.0018	0.0004	0.0003	0.0016	0.0015	0.0001	0.0001	0	0	0.0003	0.0005	0.0003	0.0001	0.0018	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0004	0.0004	5.615e-05	0	0	0	0	0	0	0.0006	0	0.0008	0.345	0.12714	T	0.592	0.19421	T	0.0	0.27908	B	0.0	0.31021	B	0.694661	0.10145	N	0.801389	1	0.08975	N	0.375	0.12094	N	1.71	0.26737	T	-2.02	0.46503	N	0.083	0.08925	-0.9718	0.36819	T	0.026	0.11353	T	10	0.031116754	0.01243	T	0.008047	0.21342	T	0.051	0.14325	0.674	0.81200	0.222439326576	0.21863	0.10465932485079842	0.10395	2.26841461588	0.96251	0.501960813999	0.39101	T	0.031641	0.22134	T	-0.677065	0.00050	T	-0.748384	0.03549	T	0.0177388914123373	0.00504	T	0.164484	0.02617	T	0.08467566	0.19610	0.07358702	0.16008	0.08467566	0.19609	0.07358702	0.16008	-8.766	0.66178	D	.	.	0.167	0.38135	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.022757	0.14027	10.59	0.55204350210412922	0.05294	0.01714	0.05438	N	AEFBI	0.083331	0.16881	N	-1.30640053621765	0.03602	0.1611548	-1.34711795707383	0.03840	0.1799397	1.37846114964617E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.2	0.019	0.13439	-3.769000	0.00417	.	.	0.418000	0.20770	0.000000	0.06391	0.000000	0.08366	0.040000	0.14268	0.2456:0.3338:0.3346:0.086	3.401	0.06899	771	0.49057	.;.;.;.;SRCR domain|SRCR domain|SRCR domain|SRCR-like domain;.;SRCR domain|SRCR domain|SRCR domain|SRCR-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2354.26	36	chr10	122601871	.	C	G	2354.26	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-9.210e-01;DP=670;ExcessHet=0.0000;FS=15.233;InbreedingCoeff=0.9024;MLEAC=2;MLEAF=0.048;MQ=35.25;MQRankSum=1.92;QD=25.05;ReadPosRankSum=0.478;SOR=0.811	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	1	0	0
chr10	122601911	122601911	C	T	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_004406:exon19:c.C1961T:p.T654I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.357	B	0.493	P	0.258	N	1.000	N	-0.905	N	1.33	T	-1.011	T	0.045	T	0.056	-1.444	0.020	-2.35	-0.335	-0.180	6.075	0.067	0.00649608246251	.	.	1.779e-05	0	0	0	0	0	0	0.0003	3.84e-05	1	26028	rs779424059	0.0004	0.0040	0.0002	0.0006	0.0065	0.0004	0.0004	0.0060	0.0058	0.0026	7.821e-05	4.235e-05	0.0016	0	0	6.795e-06	0.0006	0.0065	0.0007	0.0066	0.0006	0.0007	0.0095	0.0005	0.0005	0.0065	0.0055	0.0024	0	0.0003	0	0.0015	0	0	1.65e-05	0	0.0095	0.31	0.14111	T	0.354	0.18071	T	0.001	0.33788	B	0.002	0.47443	B	0.258100	0.03691	N	1.686660	1	0.08975	N	-0.96	0.01244	N	1.33	0.35031	T	0.63	0.03297	N	0.077	0.06322	-1.0107	0.26698	T	0.045	0.19356	T	10	0.031762272	0.01315	T	0.006496	0.17100	T	0.067	0.19503	0.554	0.67133	0.288352970974	0.28455	0.061284312012751536	0.06068	2.46693570349	0.97459	0.684967875481	0.64982	T	0.01889	0.15149	T	-0.336987	0.05600	T	-0.721835	0.04707	T	0.131508320569992	0.15521	T	0.89721	0.64041	D	0.025064997	0.01403	0.045664087	0.06193	0.025064997	0.01402	0.045664087	0.06193	-8.052	0.61424	D	.	.	0.194	0.47578	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.291768	0.06680	3.183	0.79692509004936574	0.12857	0.00163	0.00971	N	AEFBI	0.049450	0.08544	N	-1.34349798239185	0.03192	0.1422146	-1.36635440895224	0.03617	0.1690731	2.30309050818588E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.06	-2.35	0.06302	0.219000	0.17426	.	.	0.418000	0.20770	0.000000	0.06391	0.000000	0.08366	0.573000	0.30723	0.0:0.1561:0.1645:0.6794	6.075	0.19137	771	0.49057	.;.;.;.;SRCR domain|SRCR domain|SRCR domain|SRCR-like domain;.;SRCR domain|SRCR domain|SRCR domain|SRCR-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	80.46	36	chr10	122601911	.	C	T	80.46	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.07;DP=585;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0328;MLEAC=1;MLEAF=0.025;MQ=24.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=-6.520e-01;SOR=0.941	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	19	0	1	1
chr10	122630455	122630455	C	T	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_004406:exon32:c.C3719T:p.T1240I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.963	D	0.795	P	.	.	1.000	N	1.51	L	2.22	T	-1.087	T	0.046	T	0.076	-0.071	3.656	-5.81	-1.224	-1.307	3.023	0.014	0.00258880280335	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.23631	T	0.559	0.22494	T	0.34	0.55692	B	0.234	0.57940	B	.	.	.	.	1	0.08975	N	2	0.54354	M	2.22	0.18248	T	-1.47	0.42001	N	0.052	0.05542	-1.0871	0.06030	T	0.046	0.19839	T	9	0.14473486	0.27464	T	0.002589	0.05235	T	0.014	0.01968	0.5	0.59147	0.274366138417	0.27033	0.24713576942749377	0.24627	0.637711510295	0.57507	0.34586763382	0.17312	T	0.028926	0.20840	T	-0.366901	0.03754	T	-0.764804	0.02943	T	0.0788170397281647	0.09834	T	0.434357	0.12177	T	0.07166354	0.15884	0.096076265	0.22813	0.07166354	0.15884	0.096076265	0.22813	-6.039	0.46604	T	.	.	0.192	0.41125	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.666980	0.01399	0.081	0.23914371949274754	0.01033	0.01069	0.03960	N	AEFBI	0.035356	0.04537	N	-1.32933252205148	0.03344	0.1492153	-1.48356803073656	0.02479	0.1140705	0.884694047195464	0.25701	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.45	-5.81	0.02148	-1.469000	0.02454	.	.	-0.861000	0.02628	0.000000	0.06391	0.000000	0.08366	0.100000	0.18284	0.1051:0.3878:0.1036:0.4035	3.023	0.05712	571	0.70397	.;.;.;.;CUB domain|CUB domain|CUB domain|CUB domain;.;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1364.98	35	chr10	122630455	.	C	T	1364.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.214;DP=845;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.89;ReadPosRankSum=-4.530e-01;SOR=0.667	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1328	20	0	1	0
chr10	122631872	122631872	C	T	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_004406:exon34:c.C4093T:p.P1365S	.	.	411	1106	5	0	0	5	0.0022553	.	.	737389	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.45	T	0.097	B	0.099	B	.	.	1.000	N	0.78	N	1.89	T	-0.977	T	0.032	T	0.058	-0.149	3.270	-5.86	-1.196	-1.854	4.085	0.006	0.00133183655001	0.0008	0.000998403	0.0012	0.0002	0.0007	0	0	0.0019	0.0022	0.0004	0.0011061	171	154602	rs189862352	0.0008	0.0008	0.0007	0.0008	0.0177	0.0007	0.0007	0.0149	0.0139	0.0003	0.0012	0.0083	0	9.363e-05	0.0177	0.0005	0.0016	0.0006	0.0006	0.0006	0.0006	0.0007	0.0009	0.0005	0.0005	0.0005	0.0004	0.0002	0	0.0009	0.0081	0	0	0.0068	0.0006	0.0009	0.0008	0.336	0.28520	T	0.253	0.23501	T	0.097	0.25541	B	0.099	0.30579	B	.	.	.	.	1	0.08975	N	0.72	0.18721	N	1.89	0.24656	T	-1.67	0.39887	N	0.204	0.22614	-0.9772	0.35638	T	0.032	0.13592	T	9	0.0036647618	0.00067	T	0.001332	0.01885	T	0.006	0.00375	.	.	0.143124449307	0.13826	0.3593714767669015	0.35851	0.151937623519	0.17149	0.22824755311	0.01841	T	0.029273	0.21013	T	-0.658882	0.00064	T	-0.775562	0.02590	T	0.00140085972303628	0.00014	T	0.315568	0.06252	T	0.020081563	0.00554	0.040454477	0.04376	0.020081563	0.00554	0.040454477	0.04375	-3.937	0.22858	T	.	.	0.073	0.06710	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.731160	0.01250	0.064	0.32069138688701071	0.01839	0.00269	0.01464	N	AEFBI	0.041563	0.06335	N	-1.72593763727459	0.00753	0.03254914	-1.83717699914581	0.00647	0.02877756	0.999717407815277	0.42101	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.07	-5.86	0.02114	-1.375000	0.02670	.	.	-1.105000	0.01501	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5678:0.1788:0.0:0.2533	4.085	0.09417	571	0.70397	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	814.98	35	chr10	122631872	.	C	T	814.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.60;DP=798;ExcessHet=0.0000;FS=0.781;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.69;ReadPosRankSum=-1.009e+00;SOR=0.764	GT:AD:DP:GQ:PL	0/1:72,34:106:99:829,0,1786	20	0	1	0
chr10	122640247	122640247	G	A	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_004406:exon39:c.G4879A:p.V1627M	.	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.983	D	0.635	P	0.011	U	1.000	N	2.465	M	-1.71	D	-0.409	T	0.503	D	0.225	2.014	12.69	0.208	0.001	0.263	2.586	0.267	0.0315176437828	0.0026	0.000998403	0.0022	0.0004	0.0003	0	0.0023	0.0032	0.0011	0.0014	0.0020828	322	154602	rs183135544	0.0028	0.0028	0.0027	0.0028	0.0032	0.0027	0.0027	0.0031	0.0031	0.0004	0.0004	0.0005	0	0.0024	0.0010	0.0032	0.0021	0.0016	0.0021	0.0021	0.0021	0.0020	0.0033	0.0019	0.0018	0.0029	0.0028	0.0006	0	0.0012	0.0006	0	0.0034	0	0.0033	0.0024	0.0006	0.081	0.36912	T	0.105	0.38016	T	0.979	0.60381	D	0.502	0.51908	P	0.010798	0.29783	U	0.000000	1	0.08975	N	2.765	0.80766	M	-1.71	0.83157	D	-1.62	0.38924	N	0.369	0.43417	-0.4095	0.71726	T	0.503	0.81247	D	10	0.013334274	0.00283	T	0.031518	0.53580	D	0.267	0.58126	.	.	0.786567500088	0.78459	0.17080662980564693	0.17000	0.623573042438	0.56593	0.482136130333	0.36351	T	0.245258	0.61452	T	-0.360507	0.04102	T	-0.29241	0.45522	T	0.0439521328280423	0.04412	T	0.79692	0.44048	T	0.06731818	0.14567	0.08001072	0.18063	0.06731818	0.14566	0.08001072	0.18062	-10.267	0.75495	D	.	.	0.541	0.68429	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.515562	0.32499	19.06	0.99698241882032468	0.80453	0.09901	0.15550	N	AEFDBI	0.104058	0.20832	N	-0.277782267404321	0.30008	1.669294	-0.483900478332425	0.22596	1.228123	0.117551179293132	0.16804	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.53	0.208	0.14498	0.105000	0.15169	.	.	0.676000	0.76740	0.007000	0.17678	0.970000	0.29701	0.870000	0.41412	0.1838:0.1074:0.4884:0.2205	2.586	0.04537	570	0.70478	.;.;.;.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain;.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3714.98	35	chr10	122640247	.	G	A	3714.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=1062;ExcessHet=0.0000;FS=2.541;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=0.642;SOR=0.625	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr10	122643189	122643189	A	G	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_004406:exon40:c.A5149G:p.R1717G	.	.	414	1105	3	0	0	3	0.00135563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.119	B	0.056	B	0.491	U	1.000	N	0.55	N	-1.65	D	-0.854	T	0.337	T	0.241	1.864	12.19	1.45	-0.006	2.127	14.013	0.225	0.0851980980757	.	.	8.28e-05	0	0	0	0	2.997e-05	0	0.0005	6.47e-05	10	154602	rs767959534	4.926e-05	4.925e-05	3.676e-05	6.189e-05	0.0009	3.993e-05	3.669e-05	0.0003	0.0003	0	0	0	0	0	0.0009	1.619e-05	0.0002	0.0004	1.971e-05	1.969e-05	0	4.03e-05	0.0004	5.24e-06	2.45e-06	7.315e-05	3.038e-05	0	0	0	0	0	0	0.0034	0	0	0.0004	0.333	0.17296	T	0.209	0.31326	T	0.07	0.24919	B	0.033	0.26147	B	0.490993	0.12058	U	0.697398	0.999899	0.19781	N	1.495	0.37439	L	-1.65	0.82625	D	-0.31	0.15578	N	0.175	0.20262	-0.8538	0.51703	T	0.337	0.70330	T	10	0.12774542	0.24295	T	0.085198	0.74484	D	0.225	0.52323	0.665	0.80300	0.807612860159	0.80581	0.4991312956039856	0.49834	0.313427869547	0.33634	0.292685866356	0.09314	T	0.209916	0.57027	T	-0.283463	0.10303	T	-0.316991	0.42904	T	0.068766952039065	0.08477	T	0.904909	0.66542	D	0.0979802	0.23104	0.08888212	0.20752	0.0979802	0.23104	0.08888212	0.20751	-7.805	0.59734	D	.	.	0.241	0.54747	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.481010	0.19065	14.07	0.94491421671370268	0.24956	0.78344	0.38638	D	AEFDBI	0.451962	0.50572	N	-0.770947782707542	0.14071	0.69801	-0.734800196972176	0.16096	0.8498822	0.838254570472115	0.24819	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.28	1.45	0.21708	2.359000	0.43797	.	.	0.756000	0.94297	0.948000	0.32982	0.864000	0.27519	0.021000	0.11733	0.4959:0.5041:0.0:0.0	14.013	0.64023	575	0.70088	.;.;.;.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain;.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3706.98	38	chr10	122643189	.	A	G	3706.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.376e+00;DP=1133;ExcessHet=0.0000;FS=0.855;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.81;ReadPosRankSum=0.590;SOR=0.635	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1281	20	0	1	0
chr10	122676837	122676837	G	A	exonic	LOC112577516	.	stopgain	LOC112577516:NM_001364461:exon3:c.G158A:p.W53X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09091	38.43	58	chr10	122676837	.	G	A	38.43	.	AC=2;AF=0.091;AN=22;DP=58;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2444;MLEAC=2;MLEAF=0.091;MQ=60.00;QD=19.21;SOR=0.693	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,49	10	1	0	10
chr10	122837497	122837497	T	C	exonic	CUZD1	.	nonsynonymous SNV	CUZD1:NM_022034:exon4:c.A506G:p.N169S,	.	.	432	1066	22	2	0	26	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.889	P	0.526	P	0.000	D	1.000	D	2.39	M	1.14	T	-0.844	T	0.141	T	0.173	3.243	16.87	4.75	1.773	1.192	13.921	0.131	0.0240560008823	0.0009	0.000798722	0.0018	0.0002	0.0011	0	0.0045	0.0018	0.0080	0.0029	0.0016171	250	154602	rs141623717	0.0015	0.0015	0.0014	0.0016	0.0150	0.0014	0.0014	0.0124	0.0115	0.0003	0.0014	0.0074	0	0.0059	0.0150	0.0010	0.0027	0.0032	0.0013	0.0013	0.0010	0.0016	0.0025	0.0012	0.0011	0.0014	0.0011	0.0002	0	0.0012	0.0063	0	0.0060	0.0068	0.0010	0.0038	0.0025	0.449	0.09022	T	0.099	0.38891	T	0.889	0.48869	P	0.526	0.48415	P	0.000000	0.84330	D	0.000000	0.963194	0.81001	D	1.325	0.33218	L	1.14	0.38397	T	-1.4	0.34596	N	0.362	0.40364	-0.8435	0.52413	T	0.141	0.46016	T	10	0.012897134	0.00275	T	0.024056	0.47042	T	0.131	0.35738	.	.	0.400899426204	0.39700	0.564751872261647	0.56402	0.12830325821	0.14463	.	.	.	0.110994	0.42613	T	-0.486553	0.00679	T	-0.475667	0.24908	T	0.0286306033362922	0.01782	T	0.822518	0.48242	T	0.2126314	0.43621	0.2022732	0.44247	0.2126314	0.43620	0.2022732	0.44246	-6.695	0.51773	T	.	.	0.124	0.25978	B	.;.	.;.	3.008575	0.40229	21.1	0.99792853888244271	0.87839	0.91355	0.53366	D	AEFBI	0.331883	0.43147	N	0.328967419111799	0.57639	3.93217	0.323003786255043	0.56894	3.853559	0.998623142312072	0.37330	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.491896	0.07777	0	.	.	4.75	4.75	0.59954	1.560000	0.35939	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	13.921	0.63438	942	0.12992	CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	956.98	36	chr10	122837497	.	T	C	956.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.760e-01;DP=797;ExcessHet=0.0000;FS=0.795;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.52;ReadPosRankSum=2.33;SOR=0.858	GT:AD:DP:GQ:PL	0/1:48,43:91:99:971,0,1152	20	0	1	0
chr10	122951983	122951983	C	T	exonic	C10orf88	.	nonsynonymous SNV	C10orf88:NM_024942:exon3:c.G412A:p.E138K,	.	.	573	945	3	1	0	5	0.00263852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.513	P	0.096	B	0.033	U	0.987	D	2.32	M	.	.	-0.513	T	0.234	T	0.513	2.863	15.54	4.73	2.136	4.927	15.472	0.106	0.00485322877286	0.0007	0.000599042	0.0015	0	0.0007	0	0	0.0021	0.0038	0.0020	0.0011902	184	154602	rs150582565	0.0010	0.0010	0.0009	0.0011	0.0114	0.0009	0.0009	0.0091	0.0083	3.187e-05	0.0008	0.0076	0	0	0.0114	0.0008	0.0015	0.0020	0.0010	0.0010	0.0011	0.0009	0.0027	0.0009	0.0008	0.0021	0.0019	7.224e-05	0	0.0027	0.0043	0	9.457e-05	0.0034	0.0012	0.0024	0.0010	0.007	0.59928	D	0.009	0.66756	D	0.513	0.37366	P	0.096	0.30313	B	0.032546	0.25014	U	0.271410	0.987171	0.40547	D	1.765	0.45800	L	.	.	.	-3.42	0.67241	D	0.534	0.56231	-0.5133	0.68165	T	0.234	0.60063	T	9	0.006667465	0.00151	T	0.004853	0.12161	T	0.106	0.30130	.	.	0.496957384516	0.49330	0.5614624265725	0.56073	0.148761713675	0.16777	.	.	.	0.340236	0.70928	T	-0.278585	0.10817	T	-0.197572	0.54878	T	0.0409505058151343	0.03863	T	0.757724	0.38135	T	0.35918906	0.57774	0.31503505	0.57492	0.35918906	0.57774	0.31503505	0.57491	-6.238	0.48229	T	.	.	0.210	0.43775	B	.	.	3.332817	0.45886	22.2	0.99777545990360517	0.86433	0.94415	0.61092	D	AEFDBI	0.585688	0.58402	D	0.223032507511305	0.52316	3.406625	0.275391759491298	0.54107	3.576679	0.999999599990043	0.74766	0.643511	0.44296	0	0.627608	0.54475	0	0.658983	0.55881	0	0.631631	0.49550	0	.	.	4.73	4.73	0.59485	4.903000	0.62964	.	.	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:1.0:0.0:0.0	15.472	0.75176	905	0.23532	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	116.98	33	chr10	122951983	.	C	T	116.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.563;DP=638;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.88;ReadPosRankSum=-2.010e-01;SOR=0.735	GT:AD:DP:GQ:PL	0/0:32,0:32:81:0,81,1215	20	0	1	0
chr10	122980642	122980642	T	C	exonic	PSTK	.	nonsynonymous SNV	PSTK:NM_001363531:exon1:c.T163C:p.Y55H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.998	D	0.000	D	0.996	D	2.34	M	1.6	T	-0.843	T	0.175	T	0.787	3.683	18.72	4.31	1.813	4.720	11.477	0.330	0.020683331378	.	.	1.015e-05	0	0	0	0	0	0	6.995e-05	6.5e-06	1	154602	rs755316915	4.114e-06	5.472e-06	2.728e-06	5.513e-06	5.821e-05	1.48e-06	9.7e-07	2.201e-05	1.435e-05	0	0	0	0	0	0	9e-07	0	5.821e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.000000	0.995898	0.42910	D	2.945	0.84822	M	1.6	0.28604	T	-3.8	0.71762	D	0.692	0.75374	-0.8429	0.52453	T	0.175	0.51832	T	10	0.5867786	0.66155	D	0.020683	0.43322	T	0.330	0.65226	0.626	0.76141	0.512481275753	0.50889	0.8687041894488923	0.86835	0.607095407146	0.55527	0.853301882744	0.90111	D	0.194353	0.55010	T	0.11079	0.65435	D	-0.078635	0.65005	T	0.961019992828369	0.65964	D	0.787921	0.42712	T	0.7923649	0.83421	0.7735819	0.86637	0.7923649	0.83423	0.7735819	0.86638	-9.854	0.73033	D	.	.	0.901	0.83541	P	.;.;.	.;.;.	5.021257	0.83447	28.0	0.99470757779535834	0.66312	0.41867	0.26752	N	ALL	0.390943	0.46958	N	0.435994931600165	0.63414	4.574569	0.309694039227911	0.56107	3.773852	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	4.31	4.31	0.50718	4.452000	0.59794	.	.	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	0.707000	0.34357	0.0:0.0:0.0:1.0	11.477	0.49549	930	0.16408	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	474.98	35	chr10	122980642	.	T	C	474.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=834;ExcessHet=0.0000;FS=3.334;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.05;ReadPosRankSum=-7.290e-01;SOR=1.195	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1186	20	0	1	0
chr10	122983003	122983003	G	C	exonic	PSTK	.	nonsynonymous SNV	PSTK:NM_001363531:exon2:c.G487C:p.V163L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.022	B	0.000	D	0.958	D	1.825	L	2.91	T	-1.066	T	0.029	T	0.723	2.839	15.46	5.44	2.534	6.005	16.179	0.217	0.00704594610802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.48642	T	0.192	0.33554	T	0.004	0.12183	B	0.022	0.19653	B	0.000010	0.62929	D	0.064498	0.958085	0.38057	D	1.76	0.45711	L	2.91	0.10008	T	-0.84	0.22944	N	0.669	0.67736	-1.0661	0.10293	T	0.029	0.12585	T	10	0.50841606	0.61954	D	0.007046	0.18676	T	0.217	0.51112	0.724	0.85850	0.349647731962	0.34572	0.6258530157450021	0.62518	0.263583704205	0.28913	0.645784556866	0.59386	T	0.019375	0.15446	T	-0.000810022	0.51544	T	-0.23894	0.50901	T	0.890971660614014	0.54186	D	0.877812	0.59215	D	0.22272539	0.44877	0.21593522	0.46201	0.22272539	0.44877	0.21593522	0.46200	-10.869	0.78934	D	.	.	0.647	0.71035	P	.;.;.	.;.;.	3.675766	0.52298	23.2	0.99376505445614849	0.61671	0.97325	0.74040	D	AEFBI	0.695338	0.65404	D	-0.0452252440071354	0.39816	2.354205	0.149695039779814	0.47125	2.947556	0.999999870920904	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.097000	0.71099	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.179	0.81701	926	0.17793	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3947	1430.69	126	chr10	122983003	.	G	C	1430.69	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-1.692e+00;DP=2620;ExcessHet=17.4423;FS=177.818;InbreedingCoeff=-0.5926;MLEAC=15;MLEAF=0.395;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=0.541;SOR=13.321	GT:AD:DP:GQ:PL	0/1:72,36:110:99:225,0,1094	4	0	15	2
chr10	123137096	123137096	T	G	exonic	HMX3	.	nonsynonymous SNV	HMX3:NM_001105574:exon2:c.T439G:p.S147A,	.	.	198	1323	1	0	0	1	0.000377786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.055	B	0.024	B	0.000	D	0.938	D	0.695	N	-2.88	D	-0.200	T	0.395	T	0.191	1.391	10.58	4.52	1.900	4.672	13.660	0.260	.	0.0057	0.00419329	0.0020	0.0270	0.0009	0	0	2.076e-05	0	0	0.00152	235	154602	rs199720543	0.0006	0.0006	0.0007	0.0004	0.0203	0.0005	0.0005	0.0191	0.0186	0.0203	0.0010	0	0	0	0.0010	8.1e-06	0.0010	5.826e-05	0.0058	0.0058	0.0062	0.0055	0.0200	0.0055	0.0054	0.0189	0.0185	0.0200	0	0.0030	0	0	0	0	0	0.0052	0	0.005	0.63226	D	0.198	0.27767	T	0.055	0.22733	B	0.024	0.20255	B	0.000015	0.62929	D	0.071220	0.937698	0.37199	D	1.445	0.36358	L	-2.88	0.91533	D	-1.22	0.30964	N	0.403	0.44379	-0.2004	0.77661	T	0.395	0.74793	T	10	0.0074533224	0.00169	T	.	.	.	0.260	0.57221	.	.	0.63791453693	0.63493	0.276970330003286	0.27610	0.589934938662	0.54475	0.812228560448	0.83834	D	0.154282	0.49550	T	-0.321605	0.06767	T	-0.218483	0.52882	T	0.0270844719828975	0.01556	T	0.627137	0.24302	T	0.26210654	0.49271	0.1436873	0.34139	0.26210654	0.49271	0.1436873	0.34138	-3.851	0.21569	T	.	.	0.146	0.32226	B	.	.	3.373698	0.46632	22.3	0.97689503873336359	0.35364	0.97599	0.75810	D	ALL	0.564487	0.57125	D	-0.302342238866392	0.29058	1.608163	-0.155998131582376	0.33178	1.895204	0.999999997930075	0.74766	0.733237	0.96898	0	0.600757	0.49542	0	0.503968	0.08637	0	0.526665	0.08891	0	.	.	4.52	4.52	0.54797	2.620000	0.46075	7.699000	0.66186	0.580000	0.29708	0.997000	0.40164	1.000000	0.68203	0.509000	0.29221	0.0:0.0:0.0:1.0	13.660	0.61836	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	911.98	35	chr10	123137096	.	T	G	911.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.120e-01;DP=805;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.81;ReadPosRankSum=-8.570e-01;SOR=0.656	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1105	20	0	1	0
chr10	123137301	123137301	G	A	exonic	HMX3	.	nonsynonymous SNV	HMX3:NM_001105574:exon2:c.G644A:p.G215D,	.	.	3	1517	2	0	0	2	0.000658762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.06	B	0.01	B	0.000	D	0.984	D	0	N	-2.95	D	-0.444	T	0.376	T	0.189	2.627	14.74	3.85	1.238	8.988	11.986	0.252	0.302718204436	0.0021	0.000798722	0.0029	0.0012	0.0017	0	0.0032	0.0043	0.0022	0.0012	0.0019534	302	154602	rs45492702	0.0032	0.0032	0.0033	0.0031	0.0039	0.0032	0.0031	0.0038	0.0038	0.0005	0.0014	0	0	0.0014	0.0005	0.0039	0.0020	0.0012	0.0020	0.0020	0.0022	0.0018	0.0035	0.0018	0.0017	0.0031	0.0030	0.0005	0.0022	0.0014	0	0	0.0017	0	0.0035	0.0009	0.0006	0.066	0.36113	T	0.667	0.06365	T	0.06	0.23119	B	0.01	0.14941	B	0.000018	0.62929	D	0.112377	0.983598	0.40034	D	1.445	0.36358	L	-2.95	0.91903	D	-0.39	0.13611	N	0.212	0.23632	-0.4442	0.70591	T	0.376	0.73416	T	10	0.0073364675	0.00167	T	0.302718	0.90935	D	0.252	0.56159	.	.	0.639798679687	0.63683	0.22302271562430998	0.22217	0.999591725156	0.74364	0.809618234634	0.83434	D	0.044448	0.26820	T	-0.293695	0.09267	T	-0.192037	0.55399	T	0.0667087792582375	0.08182	T	0.693531	0.30321	T	0.116752185	0.27534	0.25844496	0.51577	0.116752185	0.27533	0.25844496	0.51576	-4.327	0.28554	T	.	.	0.123	0.25689	B	.	.	3.973335	0.58361	24.0	0.98609705113741219	0.43625	0.98828	0.87388	D	AEFDBCIJ	0.919555	0.89025	D	-0.434336806178873	0.24273	1.309533	-0.210035045784752	0.31174	1.761833	0.999999488410733	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.606814	0.37721	0	0.603991	0.37454	0	.	.	4.75	3.85	0.43556	9.397000	0.96628	11.620000	0.93612	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0858:0.0:0.9142:0.0	11.986	0.52435	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	925.98	35	chr10	123137301	.	G	A	925.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.74;DP=808;ExcessHet=0.0000;FS=3.884;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.08;ReadPosRankSum=1.09;SOR=1.109	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1105	20	0	1	0
chr10	124021238	124021238	G	-	exonic	CHST15	.	frameshift deletion	CHST15:NM_001270765:exon6:c.1365delC:p.R456Vfs*28	.	.	593	121	299	273	236	1081	0.777369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	94292.76	58	chr10	124021236	.	CGG	C,CG,CGGGG	94292.76	.	AC=4,33,1;AF=0.095,0.786,0.024;AN=42;BaseQRankSum=-1.600e-02;DP=3402;ExcessHet=0.6776;FS=23.539;InbreedingCoeff=-0.1053;MLEAC=4,33,1;MLEAF=0.095,0.786,0.024;MQ=59.99;MQRankSum=0.00;QD=27.55;ReadPosRankSum=-1.170e-01;SOR=0.000	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,10,134,0:144:99:.:.:5773,5014,4778,430,148,0,5563,4935,422,5418	0	0	1	0
chr10	124021238	124021238	-	GG	exonic	CHST15	.	frameshift insertion	CHST15:NM_001270765:exon6:c.1364_1365insCC:p.R456Pfs*29	.	.	593	121	299	273	236	1081	0.777369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	94292.76	58	chr10	124021236	.	CGG	C,CG,CGGGG	94292.76	.	AC=4,33,1;AF=0.095,0.786,0.024;AN=42;BaseQRankSum=-1.600e-02;DP=3402;ExcessHet=0.6776;FS=23.539;InbreedingCoeff=-0.1053;MLEAC=4,33,1;MLEAF=0.095,0.786,0.024;MQ=59.99;MQRankSum=0.00;QD=27.55;ReadPosRankSum=-1.170e-01;SOR=0.000	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,10,134,0:144:99:.:.:5773,5014,4778,430,148,0,5563,4935,422,5418	0	0	1	0
chr10	124484261	124484261	C	T	exonic	LHPP	.	nonsynonymous SNV	LHPP:NM_001167880:exon2:c.C248T:p.P83L	.	.	419	1100	3	0	0	3	0.00136178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	3.135	M	1.38	T	-0.301	T	0.293	T	0.924	3.750	19.04	4.46	2.492	7.170	17.698	0.489	0.12001582747	.	.	2.482e-05	0	8.649e-05	0	0	0	0	0.0001	1.94e-05	3	154602	rs774460170	1.573e-05	1.573e-05	1.225e-05	1.925e-05	9.275e-05	1.048e-05	8.75e-06	4.578e-05	3.272e-05	0	4.472e-05	0	0	3.753e-05	0	5.396e-06	8.279e-05	9.275e-05	1.972e-05	1.97e-05	2.57e-05	1.345e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	9.427e-05	0	2.94e-05	0	0	0.007	0.68238	D	0.007	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.6	0.93737	H	1.38	0.34050	T	-5.18	0.85921	D	0.904	0.91968	-0.3013	0.74949	T	0.293	0.66450	T	10	0.8466832	0.83835	D	0.120016	0.80045	D	0.489	0.77656	0.542	0.65446	0.283761946502	0.27984	0.9282217328241392	0.92800	0.762294146699	0.64330	0.548564255238	0.45655	T	0.033384	0.22889	T	0.144024	0.68706	D	0.171758	0.81514	D	0.917318522930145	0.57510	D	0.962204	0.85735	D	0.9548416	0.96757	0.8472146	0.91317	0.9548416	0.96757	0.8472146	0.91318	-12.563	0.90895	D	.	.	0.700	0.76755	P	.;.;.	.;.;.	4.673685	0.74716	26.2	0.99853847039118682	0.93279	0.98610	0.84669	D	AEFDGBI	0.898339	0.84151	D	0.756491278440794	0.83330	7.988616	0.627091509848668	0.76912	6.579668	0.999999999999544	0.74766	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.699875	0.68795	0	.	.	4.46	4.46	0.53567	7.236000	0.77612	7.507000	0.59567	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.153000	0.20410	0.0:1.0:0.0:0.0	17.698	0.88194	899	0.25060	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1651.98	33	chr10	124484261	.	C	T	1651.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.049;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=1.62;SOR=0.686	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1085	20	0	1	0
chr10	124834526	124834526	G	A	exonic	ABRAXAS2	.	nonsynonymous SNV	ABRAXAS2:NM_032182:exon9:c.G803A:p.R268K,	.	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.759	P	0.4	B	0.003	N	0.977	D	0.895	L	0.84	T	-1.057	T	0.116	T	0.361	4.124	21.3	6.02	2.865	6.333	18.721	0.077	.	.	0.00319489	0.0012	0	8.76e-05	0	0.0002	4.557e-05	0.0046	0.0082	0.0010284	159	154602	rs368806973	0.0005	0.0005	0.0003	0.0007	0.0070	0.0005	0.0004	0.0065	0.0063	2.987e-05	2.236e-05	0	5.038e-05	1.873e-05	0.0003	6.295e-05	0.0005	0.0070	0.0003	0.0003	0.0002	0.0003	0.0079	0.0002	0.0002	0.0059	0.0052	2.406e-05	0	0	0	0	0	0	0	0	0.0079	0.094	0.31383	T	0.449	0.12993	T	0.759	0.43487	P	0.4	0.44481	B	0.002953	0.35672	N	0.330026	0.976835	0.39311	D	.	.	.	0.84	0.47477	T	-0.42	0.14193	N	0.193	0.21188	-1.0566	0.12621	T	0.116	0.40942	T	10	0.005426109	0.00119	T	.	.	.	0.077	0.22490	0.245	0.17984	0.658058094355	0.65520	0.26065719012012006	0.25979	0.830019178665	0.67582	0.500873565674	0.38951	T	0.044913	0.26961	T	-0.410001	0.01987	T	-0.357429	0.38351	T	0.0373369052582281	0.03214	T	0.773923	0.40554	T	0.10704238	0.25311	0.116656154	0.28161	0.10704238	0.25311	0.116656154	0.28160	-4.056	0.24639	T	.	.	0.096	0.15160	B	.	.	3.291169	0.45137	22.1	0.9934336807269476	0.60291	0.98885	0.88157	D	AEFDBI	0.579203	0.58010	D	0.317110918589403	0.57026	3.868598	0.445743300355964	0.64443	4.699735	0.999999949660463	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.02	6.02	0.97559	6.827000	0.75095	8.344000	0.77000	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:1.0:0.0	18.721	0.91657	761	0.50382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1435.98	34	chr10	124834526	.	G	A	1435.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.425;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=-1.600e-01;SOR=0.766	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1436	20	0	1	0
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S	.	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.42	B	0.406	B	0.041	N	0.547	N	-0.345	N	-1.58	D	-0.266	T	0.330	T	0.333	1.581	11.24	3.98	0.967	1.940	11.061	0.362	0.0412206901109	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs75839774	4.107e-06	4.104e-06	5.449e-06	2.752e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.61437	D	0.553	0.32461	T	0.017	0.35330	B	0.044	0.44683	B	0.040786	0.24019	N	0.433304	0.546531	0.31369	N	1.1	0.28011	L	-1.58	0.82806	D	-0.98	0.25986	N	0.097	0.39153	-0.2662	0.75916	T	0.330	0.69766	T	10	0.12751639	0.24250	T	0.041221	0.59806	D	0.362	0.68230	0.075	0.00517	0.760080849401	0.75790	0.26369227103169535	0.26282	1.68067603589	0.89969	0.448414385319	0.31727	T	0.157679	0.50038	T	0.0363132	0.56560	T	-0.185615	0.55999	T	0.436808287713247	0.30312	T	0.90311	0.67973	D	0.08655811	0.20123	0.08484771	0.19547	0.08655811	0.20122	0.08484771	0.19547	-2.304	0.04577	T	.	.	0.070	0.03588	B	.;.;.;.;.;.	.;.;.;.;.;.	2.477890	0.31950	18.89	0.9913628706847909	0.53410	0.86806	0.46168	D	AEFDGBCI	0.540087	0.55679	D	-0.275999058280499	0.30077	1.67381	-0.0903501737703044	0.35788	2.074695	0.999999280419097	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	3.98	0.45383	2.629000	0.46152	0.448000	0.18493	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.0728:0.0:0.9272	11.061	0.47165	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4762	25745.43	127	chr10	124989543	.	T	C	25745.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.935e+00;DP=2756;ExcessHet=43.6797;FS=18.332;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=49.30;MQRankSum=-8.794e+00;QD=9.77;ReadPosRankSum=0.699;SOR=0.186	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,32:118:99:0|1:124989533_G_A:921,0,3460:124989533	1	0	20	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36	.	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	13474.39	125	chr10	124989564	.	TG	T	13474.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-3.297e+00;DP=2881;ExcessHet=43.6797;FS=16.961;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=51.38;MQRankSum=-8.258e+00;QD=5.07;ReadPosRankSum=-1.778e+00;SOR=0.329	GT:AD:DP:GQ:PL	0/1:95,20:115:99:265,0,3207	1	0	20	0
chr10	124989579	124989579	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1481G:p.A494G	.	.	436	984	100	2	0	104	0.0501931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.975	D	0.001	N	1.000	D	1.24	L	-1.82	D	0.438	D	0.671	D	0.652	4.150	21.4	5.12	2.665	9.168	18.759	0.523	0.0686986444289	.	.	.	.	.	.	.	.	.	.	6.47e-05	10	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.68238	D	0.102	0.48594	T	0.939	0.77913	P	0.656	0.73362	P	0.001392	0.39175	N	0.252302	0.999998	0.58761	D	1.975	0.53506	M	-1.82	0.85003	D	-1.94	0.45042	N	0.486	0.62781	0.438	0.89660	D	0.671	0.88602	D	10	0.37102997	0.53476	T	0.068699	0.70524	D	0.523	0.79765	0.146	0.04941	0.760411053773	0.75822	0.4168685752787953	0.41602	1.88731367476	0.92685	0.701414048672	0.67348	T	0.299078	0.67161	T	0.208989	0.74736	D	0.0624214	0.74406	D	0.93170565366745	0.59725	D	0.741926	0.36245	T	0.23596977	0.46441	0.21558693	0.46153	0.23596977	0.46441	0.21558693	0.46152	-4.06	0.25701	T	.	.	0.324	0.54775	B	.;.;.;.;.;.	.;.;.;.;.;.	5.064118	0.84424	28.3	0.99719618450600933	0.81914	0.96716	0.70558	D	AEFDGBCI	0.937767	0.93600	D	0.680611287748224	0.78361	6.856259	0.718927581574258	0.83819	8.122182	1.0	0.98316	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	9.506000	0.96988	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	18.759	0.91807	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4333	4921.72	139	chr10	124989579	.	G	C	4921.72	.	AC=13;AF=0.433;AN=30;BaseQRankSum=0.109;DP=2996;ExcessHet=11.8493;FS=20.692;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.533;MQ=53.13;MQRankSum=-7.741e+00;QD=2.77;ReadPosRankSum=-2.380e+00;SOR=0.745	GT:AD:DP:GQ:PL	./.:136,0:136:0:0,0,3166	2	0	13	6
chr10	124989594	124989594	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1466T:p.A489V	.	.	434	994	92	2	0	96	0.0460653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.194	B	0.09	B	0.000	D	0.999	D	0.55	N	-1.7	D	-0.359	T	0.375	T	0.715	2.521	14.39	5.12	2.665	5.242	16.928	0.413	0.0164095717119	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs796932553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.61437	D	0.153	0.47581	T	0.0	0.29493	B	0.003	0.29851	B	0.000074	0.52346	D	0.171354	0.998727	0.45339	D	0	0.06538	N	-1.7	0.83893	D	-1.52	0.36980	N	0.068	0.35088	-0.3593	0.73284	T	0.375	0.73332	T	10	0.20304337	0.36446	T	0.01641	0.37653	T	0.413	0.72404	0.116	0.02439	0.921111971606	0.92031	0.4850374405507885	0.48423	1.38571311652	0.84878	0.61237859726	0.54653	T	0.238026	0.60585	T	0.178629	0.71918	D	0.0188116	0.71553	D	0.939782977104187	0.61154	D	0.778122	0.41194	T	0.23727793	0.46589	0.19780372	0.43581	0.23727793	0.46589	0.19780372	0.43580	-4.076	0.27513	T	.	.	0.188	0.40538	B	.;.;.;.;.;.	.;.;.;.;.;.	3.666132	0.52110	23.2	0.99088467818009263	0.52149	0.89521	0.50038	D	AEFDGBCI	0.658597	0.62981	D	0.0387136870084276	0.43625	2.651733	0.235082274552022	0.51805	3.359932	0.999999999873815	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	5.529000	0.66849	9.961000	0.82795	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:1.0:0.0	16.928	0.86052	939	0.14249	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	2443.96	41	chr10	124989594	.	G	A	2443.96	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-1.716e+00;DP=2367;ExcessHet=2.5830;FS=12.019;InbreedingCoeff=-0.2395;MLEAC=8;MLEAF=0.211;MQ=55.23;MQRankSum=-7.172e+00;QD=2.31;ReadPosRankSum=-2.830e+00;SOR=0.964	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485	12	0	7	2
chr10	124989627	124989627	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.G1433A:p.G478D	.	.	427	1089	5	1	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.968	D	0.889	P	0.000	D	1.000	D	1.245	L	-1.74	D	0.393	D	0.651	D	0.954	3.383	17.41	5.12	2.665	3.457	18.759	0.633	.	.	.	0.0174	0.0503	0.0155	0.0143	0.0191	0.0155	0.0156	0.0054	3.84e-05	1	26028	rs756741005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.78490	D	0.311	0.58089	T	0.161	0.56581	B	0.15	0.63100	B	0.000027	0.55875	D	0.119212	0.999998	0.58761	D	1.59	0.40313	L	-1.74	0.84919	D	-2.96	0.61722	D	0.248	0.54845	0.393	0.88992	D	0.651	0.87858	D	10	0.009252697	0.00209	T	.	.	.	0.633	0.85924	.	.	.	.	0.8531506460556879	0.85277	2.23748090164	0.95990	0.790876150131	0.80577	T	0.271821	0.64418	T	0.385229	0.89043	D	0.315578	0.88905	D	0.110486913242678	0.13473	T	0.878612	0.59406	D	0.52087295	0.68309	0.5648171	0.74813	0.52087295	0.68310	0.5648171	0.74814	-8.377	0.68810	D	.	.	0.795	0.77066	P	.;.;.;.;.;.	.;.;.;.;.;.	5.178409	0.86818	29.0	0.99443947313824621	0.64921	0.87848	0.47530	D	AEFDGBCI	0.627834	0.61015	D	0.286557793114462	0.55466	3.710699	0.387575918321906	0.60798	4.271533	1.0	0.98316	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	2.340000	0.43631	7.687000	0.65600	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.759	0.91807	939	0.14249	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02632	254.72	41	chr10	124989627	.	C	T	254.72	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.38;DP=1200;ExcessHet=0.0000;FS=3.171;InbreedingCoeff=-0.0500;MLEAC=1;MLEAF=0.026;MQ=55.01;MQRankSum=-6.779e+00;QD=2.11;ReadPosRankSum=-1.485e+00;SOR=1.069	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	2
chr10	124989642	124989642	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.G1418A:p.G473E	.	.	426	1093	2	1	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.982	D	0.000	D	1.000	D	1.65	L	-1.75	D	0.389	D	0.695	D	0.871	4.461	23.8	5.12	2.665	4.426	18.759	0.611	0.07707971714	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1048828483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.78490	D	0.018	0.67890	D	0.991	0.90584	D	0.792	0.75477	P	0.000101	0.50451	D	0.176385	1	0.81001	D	2.08	0.57402	M	-1.75	0.84701	D	-3.6	0.69357	D	0.659	0.80278	0.389	0.88933	D	0.695	0.89492	D	10	0.67974395	0.71207	D	0.07708	0.72685	D	0.611	0.84773	0.365	0.37199	0.91561547213	0.91476	0.7843493184838983	0.78385	2.12843697498	0.95139	0.786594867706	0.79925	T	0.54921	0.84705	D	0.367818	0.87864	D	0.290568	0.87709	D	0.984691321849823	0.75919	D	0.910909	0.68443	D	0.7335251	0.79923	0.69394624	0.81984	0.7335251	0.79925	0.69394624	0.81985	-8.712	0.71362	D	.	.	0.791	0.76874	P	.;.;.;.;.;.	.;.;.;.;.;.	4.756883	0.76871	26.6	0.99781115016290312	0.86780	0.91532	0.53727	D	AEFDGBCIJ	0.796139	0.72336	D	0.62297357779019	0.74631	6.165	0.626955353454448	0.76904	6.577776	1.0	0.98316	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	4.646000	0.61108	4.866000	0.45518	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	18.759	0.91807	939	0.14249	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02632	334.72	41	chr10	124989642	.	C	T	334.72	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.33;DP=1211;ExcessHet=0.0000;FS=1.012;InbreedingCoeff=-0.0500;MLEAC=1;MLEAF=0.026;MQ=56.08;MQRankSum=-6.175e+00;QD=2.86;ReadPosRankSum=-2.569e+00;SOR=0.872	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485	18	0	1	2
chr10	124989648	124989648	A	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.T1412G:p.M471R	.	.	425	1093	3	1	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.959	D	0.628	P	0.000	D	1.000	D	0.345	N	-1.61	D	-0.049	T	0.421	T	0.849	2.548	14.48	5.12	2.153	8.651	15.094	0.574	0.0174957163766	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs909045814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.91255	D	0.186	0.46632	T	0.017	0.55135	B	0.053	0.51677	B	0.000071	0.52346	D	0.192375	0.999969	0.52935	D	0.895	0.22405	L	-1.61	0.82897	D	-2.23	0.50012	N	0.635	0.72120	-0.0486	0.81236	T	0.421	0.76630	T	10	0.59502995	0.66593	D	0.017496	0.39223	T	0.574	0.82742	0.265	0.21103	0.967162653852	0.96681	0.8635126747086387	0.86315	2.117318429	0.94984	0.66468167305	0.62079	T	0.226225	0.59119	T	0.349441	0.86470	D	0.264172	0.86291	D	0.870904505252838	0.52080	D	0.59464	0.23746	T	0.7757546	0.82394	0.6730268	0.80808	0.7757546	0.82395	0.6730268	0.80809	-5.558	0.47338	T	.	.	0.640	0.70527	P	.;.;.;.;.;.	.;.;.;.;.;.	5.085184	0.84888	28.4	0.97884800017334472	0.36628	0.95835	0.66357	D	AEFDGBCIJ	0.939906	0.94113	D	0.217206954155925	0.52034	3.380147	0.373018425192579	0.59905	4.172661	0.999999999999634	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	8.840000	0.91757	6.143000	0.54081	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.094	0.71887	939	0.14249	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02632	352.72	41	chr10	124989648	.	A	C	352.72	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=1217;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=1;MLEAF=0.026;MQ=56.76;MQRankSum=-7.193e+00;QD=3.18;ReadPosRankSum=-3.257e+00;SOR=0.731	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485	18	0	1	2
chr10	124989657	124989657	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1403delC:p.P468Lfs*14	.	.	425	1094	2	1	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	344.94	41	chr10	124989656	.	AG	A	344.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.08;DP=1042;ExcessHet=0.0000;FS=1.071;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.73;MQRankSum=-8.727e+00;QD=3.29;ReadPosRankSum=-3.913e+00;SOR=0.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485	20	0	1	0
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H	.	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	2.48	M	-1.64	D	0.598	D	0.722	D	0.666	4.396	23.3	5.36	2.030	7.698	15.357	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7883.4	152	chr10	124994489	.	T	G	7883.4	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.91;DP=3256;ExcessHet=54.0936;FS=22.490;InbreedingCoeff=-0.9843;MLEAC=21;MLEAF=0.500;MQ=58.49;MQRankSum=-7.468e+00;QD=2.53;ReadPosRankSum=-3.768e+00;SOR=2.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,36:172:99:0|1:124994489_T_G:1102,0,5532:124994489	0	0	21	0
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y	.	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.868	P	0.701	P	0.000	D	1.000	D	0.5	N	-1.36	T	-0.129	T	0.435	T	0.897	4.262	22.2	5.21	2.428	9.476	18.767	0.771	0.0948171006631	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978705792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.42487	T	0.297	0.31125	T	0.868	0.47740	P	0.617	0.54186	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.11	0.08516	N	-1.36	0.80125	T	-5.44	0.85541	D	0.915	0.92084	-0.1289	0.79427	T	0.435	0.77536	T	10	0.7908057	0.78643	D	0.094817	0.76319	D	0.771	0.92294	0.486	0.56939	0.919217431084	0.91840	0.9252807218489828	0.92505	1.25117579951	0.81802	0.887714266777	0.94973	D	0.545829	0.84532	D	0.352326	0.86659	D	0.268315	0.86483	D	0.94890558719635	0.62996	D	0.972303	0.89961	D	0.826035	0.85629	0.7361207	0.84404	0.826035	0.85631	0.7361207	0.84405	-9.649	0.71784	D	.	.	0.781	0.76420	P	.;.;.;.;.;.	.;.;.;.;.;.	4.665783	0.74522	26.2	0.99760421591352766	0.85011	0.95027	0.63172	D	AEFDGBCI	0.931287	0.91988	D	0.465501566800638	0.65087	4.778689	0.565123419115292	0.72454	5.812716	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.771000	0.84203	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11255.74	156	chr10	124994501	.	G	A	11255.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.168e+00;DP=3468;ExcessHet=54.0936;FS=34.605;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.01;MQRankSum=-6.676e+00;QD=3.46;ReadPosRankSum=-2.867e+00;SOR=3.343	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,37:173:99:0|1:124994489_T_G:1144,0,5587:124994489	0	0	21	0
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q	.	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.682	P	0.383	B	0.000	D	1.000	D	-0.56	N	-1.26	T	-0.801	T	0.184	T	0.76	2.740	15.12	1.37	0.279	1.859	8.31	0.476	0.0731369313184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937366751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.46513	D	0.259	0.44702	T	0.682	0.41464	P	0.219	0.43945	B	0.000000	0.84330	D	0.000000	0.999904	0.50806	D	-0.715	0.01801	N	-1.26	0.79176	T	-6.79	0.93135	D	0.687	0.70000	-0.8006	0.55109	T	0.184	0.53255	T	10	0.5356107	0.63429	D	0.073137	0.71713	D	0.476	0.76816	0.447	0.50629	0.947376611969	0.94682	0.8013614072212495	0.80090	0.902566627065	0.70693	0.888023793697	0.95012	D	0.559992	0.85254	D	0.155552	0.69787	D	-0.0143363	0.69401	D	0.887895047664642	0.53844	D	0.743426	0.36288	T	0.90044665	0.91423	0.7164848	0.83265	0.90044665	0.91424	0.7164848	0.83266	-12.552	0.89160	D	.	.	0.886	0.85521	P	.;.;.;.;.;.	.;.;.;.;.;.	3.763339	0.54010	23.4	0.97895156658106663	0.36704	0.72838	0.35639	D	AEFDGBCI	0.464485	0.51296	N	-0.261912955812249	0.30631	1.70973	-0.146100228405978	0.33558	1.920874	0.999999244525417	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	1.37	0.21200	1.883000	0.39293	2.678000	0.33996	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.5559:0.0:0.4441:0.0	8.31	0.31226	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	11481.74	156	chr10	124994505	.	A	T	11481.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.11;DP=3557;ExcessHet=54.0936;FS=34.605;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=57.84;MQRankSum=-6.427e+00;QD=3.53;ReadPosRankSum=-2.195e+00;SOR=3.365	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,38:169:99:0|1:124994489_T_G:1191,0,5368:124994489	0	0	21	0
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F	.	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	2.82	M	-1.61	D	0.694	D	0.759	D	0.962	4.522	24.3	5.21	2.428	9.476	18.767	0.938	0.47632593724	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374871777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.61	0.82254	D	-5.08	0.82896	D	0.976	0.98657	0.694	0.93099	D	0.759	0.91795	D	10	0.9291788	0.92260	D	0.476326	0.94766	D	0.938	0.98636	0.718	0.85319	0.963037453765	0.96263	0.9856555258906051	0.98558	2.08621322631	0.94675	0.860175311565	0.91136	D	0.733508	0.92560	D	0.422049	0.91127	D	0.368468	0.91016	D	0.994980752468109	0.86633	D	0.836416	0.50788	T	0.98504084	0.99469	0.92532665	0.96770	0.98504084	0.99469	0.92532665	0.96771	-14.995	0.96879	D	.	.	0.993	0.95154	P	.;.;.;.;.;.	.;.;.;.;.;.	5.187974	0.87005	29.1	0.99852028210273314	0.93102	0.95134	0.63563	D	AEFDGBCI	0.931287	0.91988	D	0.925236055449727	0.92941	11.72177	0.873600535312142	0.94317	12.66702	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	9.602000	0.97623	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	17751.74	151	chr10	124994530	.	G	A	17751.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.820e-01;DP=3935;ExcessHet=54.0936;FS=46.204;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=57.24;MQRankSum=-5.975e+00;QD=5.06;ReadPosRankSum=1.22;SOR=3.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,43:180:99:0|1:124994523_G_A:1355,0,5457:124994523	0	0	21	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N	.	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.979	D	0.000	D	1.000	D	3.655	H	-1.86	D	0.923	D	0.835	D	0.591	4.999	29.4	5.21	2.428	7.487	18.767	0.881	0.520636706354	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs78155918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.79402	D	0.994	0.66517	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-1.86	0.84341	D	-2.9	0.61580	D	0.951	0.95956	0.923	0.96008	D	0.835	0.94461	D	10	0.96767014	0.96284	D	0.520637	0.95441	D	0.881	0.96502	0.859	0.95718	0.8508886717	0.84945	0.9945051231415541	0.99447	1.72531923595	0.90642	0.895219087601	0.95893	D	0.849948	0.96576	D	0.195726	0.73494	D	0.04337	0.73148	D	0.993175552752073	0.83871	D	0.98969	0.96662	D	0.9860643	0.99535	0.9414922	0.97865	0.9860643	0.99535	0.9414922	0.97866	-14.163	0.96648	D	.	.	0.990	0.93538	P	.;.;.;.;.;.	.;.;.;.;.;.	4.768549	0.77163	26.6	0.99793032458852304	0.87839	0.92617	0.56134	D	AEFDGBCI	0.921115	0.89410	D	0.951529578297244	0.94047	12.46209	0.869409228877299	0.94098	12.50256	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.568000	0.81546	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	9863.05	143	chr10	124994542	.	C	T	9863.05	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.164e+00;DP=3993;ExcessHet=43.6797;FS=49.168;InbreedingCoeff=-0.9535;MLEAC=21;MLEAF=0.525;MQ=57.04;MQRankSum=-5.810e+00;QD=3.01;ReadPosRankSum=1.99;SOR=3.857	GT:AD:DP:GQ:PL	0/1:127,44:171:99:691,0,3574	0	0	20	1
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q	.	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.835	M	-1.85	D	0.754	D	0.782	D	0.972	4.559	24.7	5.42	2.054	8.962	15.466	0.960	0.547155886187	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150320719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.835	0.82492	M	-1.85	0.84267	D	-5.78	0.88699	D	0.932	0.93841	0.754	0.93845	D	0.782	0.92582	D	10	0.9727028	0.96922	D	0.547156	0.95809	D	0.960	0.99376	0.857	0.95604	0.951774941741	0.95126	0.9701566259621512	0.97004	2.04308220201	0.94282	0.848910570145	0.89450	D	0.853663	0.96692	D	0.45783	0.92829	D	0.419864	0.92740	D	0.999412894248962	0.97310	D	0.830117	0.49576	T	0.9576254	0.97040	0.9405844	0.97806	0.9576254	0.97041	0.9405844	0.97806	-13.719	0.92108	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	5.061375	0.84364	28.3	0.99631799569558666	0.76081	0.94544	0.61510	D	AEFDGBCI	0.948042	0.95924	D	0.879361810884359	0.90712	10.53043	0.831570877214738	0.91895	11.12529	0.999999999999983	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	8.947000	0.92735	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.466	0.75135	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	11569.05	148	chr10	124994563	.	A	T	11569.05	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.224e+00;DP=4131;ExcessHet=43.6797;FS=57.159;InbreedingCoeff=-0.9535;MLEAC=21;MLEAF=0.525;MQ=56.94;MQRankSum=-6.032e+00;QD=3.36;ReadPosRankSum=3.18;SOR=4.119	GT:AD:DP:GQ:PL	0/1:132,49:181:99:753,0,3683	0	0	20	1
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H	.	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.954	D	0.000	D	1.000	D	0.535	N	-1.71	D	0.130	D	0.526	D	0.874	4.527	24.4	4.51	1.255	3.829	13.270	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	27377.74	154	chr10	124994577	.	C	A	27377.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.280e+00;DP=4255;ExcessHet=54.0936;FS=61.004;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.96;MQRankSum=-6.569e+00;QD=7.23;ReadPosRankSum=2.73;SOR=4.019	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,51:190:99:0|1:124994577_C_A:1683,0,5612:124994577	0	0	21	0
chr10	124994610	124994641	CAAGTAGGGGTCATAAAATATGACGCTGAATC	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon5:c.812_843del:p.G271Afs*36	.	.	417	925	176	4	0	184	0.0904621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1184.94	119	chr10	124994609	.	GCAAGTAGGGGTCATAAAATATGACGCTGAATC	G	1184.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.055e+00;DP=2892;ExcessHet=0.0000;FS=41.219;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.49;MQRankSum=-5.369e+00;QD=6.89;ReadPosRankSum=4.96;SOR=3.140	GT:AD:DP:GQ:PL	0/0:142,0:142:99:0,117,1800	20	0	1	0
chr10	124998077	124998077	C	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.G656C:p.W219S	.	.	411	908	195	8	0	211	0.104095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.995	D	0.972	D	0.000	D	1.000	D	0.21	N	-1.24	T	0.015	D	0.436	T	0.965	4.582	24.9	4.73	2.329	7.484	18.072	0.729	0.132665301415	.	.	.	.	.	.	.	.	.	.	.	.	.	rs921417861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.49613	D	0.251	0.48855	T	0.932	0.67487	P	0.903	0.72692	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.73	0.18813	N	-1.24	0.78967	T	-13.16	0.99944	D	0.816	0.82660	0.015	0.82548	D	0.436	0.77612	T	10	0.8384273	0.82996	D	0.132665	0.81500	D	0.729	0.90501	0.42	0.46200	0.916186859433	0.91534	0.939893042578689	0.93970	2.15981024662	0.95367	0.902819037437	0.96746	D	0.566519	0.85577	D	0.361391	0.87361	D	0.281337	0.87198	D	0.999315857887268	0.96929	D	0.787421	0.42665	T	0.9529722	0.96568	0.9167839	0.96171	0.9529722	0.96569	0.9167839	0.96171	-13.048	0.91030	D	.	.	0.987	0.92737	P	.;.;.;.;.;.	.;.;.;.;.;.	5.895887	0.93981	33	0.99155191442297097	0.53931	0.92847	0.56691	D	AEFDGBCI	0.944592	0.95186	D	0.526305507094081	0.68652	5.246556	0.569067646848623	0.72734	5.856765	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.565000	0.81337	5.908000	0.50981	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4091	2613.45	155	chr10	124998077	.	C	G	2613.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-1.989e+00;DP=3731;ExcessHet=4.7172;FS=12.784;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.72;MQRankSum=-8.708e+00;QD=1.59;ReadPosRankSum=1.79;SOR=1.898	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:199,0:199:0:.:.:0,0,4249	2	0	9	10
chr10	124998080	124998080	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C653G:p.T218R	.	.	411	907	195	9	0	213	0.105081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.994	D	0.000	D	1.000	D	0.17	N	-1.31	T	0.036	D	0.482	T	0.76	4.180	21.6	4.73	2.329	9.471	18.072	0.679	0.0475041477189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.53900	T	0.336	0.34124	T	0.999	0.90584	D	0.989	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.54	0.13725	N	-1.31	0.79666	T	-3.5	0.68298	D	0.928	0.95139	0.036	0.82969	D	0.482	0.80205	T	10	0.8320574	0.82367	D	0.047504	0.62952	D	0.679	0.88205	0.598	0.72862	0.765312620283	0.76316	0.9505245979181556	0.95036	2.12633044952	0.95074	0.794296979904	0.81096	T	0.503085	0.82273	D	0.222721	0.76033	D	0.0821472	0.75720	D	0.938564615564625	0.60928	D	0.79772	0.44184	T	0.9565074	0.96926	0.8445915	0.91143	0.9565074	0.96926	0.8445915	0.91143	-16.429	0.98336	D	.	.	0.949	0.86814	P	.;.;.;.;.;.	.;.;.;.;.;.	5.668071	0.92919	33	0.99401680195169373	0.62841	0.95078	0.63357	D	AEFDGBCI	0.948544	0.96027	D	0.585474125636482	0.72268	5.778968	0.626633119523619	0.76879	6.573287	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	9.597000	0.97445	8.536000	0.77474	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4091	2556.39	158	chr10	124998080	.	G	C	2556.39	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-9.380e-01;DP=3732;ExcessHet=4.7172;FS=9.991;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.72;MQRankSum=-8.738e+00;QD=1.54;ReadPosRankSum=2.17;SOR=1.884	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:201,0:201:0:.:.:0,0,3930	2	0	9	10
chr10	124998087	124998087	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.A646G:p.R216G	.	.	414	922	177	9	0	195	0.0956351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.967	D	0.834	P	0.000	D	1.000	D	0.605	N	-1.44	T	-0.139	T	0.443	T	0.98	3.339	17.24	0.468	-0.119	-0.061	17.140	0.592	0.187163960256	.	.	.	.	.	.	.	.	.	.	.	.	.	rs914098337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.46513	T	0.114	0.50226	T	0.889	0.56408	P	0.532	0.59825	P	0.000000	0.84330	D	0.000000	0.999931	0.51612	D	1.53	0.38800	L	-1.44	0.80815	T	-6.41	0.91868	D	0.945	0.95491	-0.1393	0.79182	T	0.443	0.78033	T	10	0.8510742	0.84286	D	0.187164	0.85921	D	0.592	0.83747	0.59	0.71874	0.975786130339	0.97552	0.9668684472081748	0.96674	1.31579442616	0.83326	0.803737461567	0.82533	D	0.582432	0.86347	D	0.299844	0.82957	D	0.192928	0.82736	D	0.96776270866394	0.68017	D	0.831417	0.49863	T	0.8377413	0.86447	0.72207403	0.83588	0.8377413	0.86448	0.72207403	0.83589	-13.47	0.92423	D	.	.	0.990	0.93663	P	.;.;.;.;.;.	.;.;.;.;.;.	3.151647	0.42666	21.6	0.99467938748563089	0.66154	0.20835	0.21186	N	AEFDGBCI	0.404313	0.47765	N	-0.449297695031707	0.23763	1.278434	-0.489554569803757	0.22440	1.218867	0.999987001428746	0.51787	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	0.468	0.15943	-0.037000	0.12116	0.229000	0.16167	-0.876000	0.02500	0.022000	0.19841	0.016000	0.20520	0.945000	0.48827	0.0:0.0:0.2754:0.7246	17.140	0.86628	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4091	2505.45	158	chr10	124998087	.	T	C	2505.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-1.870e+00;DP=3764;ExcessHet=4.7172;FS=12.587;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.73;MQRankSum=-8.711e+00;QD=1.49;ReadPosRankSum=3.13;SOR=1.910	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:204,0:204:0:.:.:0,0,4444	2	0	9	10
chr10	124998090	124998090	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C643T:p.R215W	.	.	413	929	171	9	0	189	0.0923302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	3.345	M	-2.1	D	0.927	D	0.842	D	0.994	4.577	24.9	4.73	2.329	2.969	18.072	0.874	0.341150234986	.	.	.	.	.	.	.	.	.	.	.	.	.	rs945665113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.59928	D	0.005	0.74150	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.78	0.95251	H	-2.1	0.86146	D	-7.06	0.95511	D	0.966	0.98840	0.927	0.96063	D	0.842	0.94722	D	10	0.9513125	0.94468	D	0.34115	0.92018	D	0.874	0.96243	0.801	0.92017	0.936821863726	0.93617	0.9793425394167631	0.97925	2.04020034352	0.94242	0.869401991367	0.92483	D	0.888608	0.97719	D	0.413835	0.90693	D	0.356669	0.90576	D	0.995111286640167	0.86855	D	0.922308	0.71764	D	0.9076591	0.92078	0.81096756	0.88961	0.9076591	0.92079	0.81096756	0.88962	-12.412	0.89971	D	.	.	0.994	0.94938	P	.;.;.;.;.;.	.;.;.;.;.;.	5.386720	0.90260	31	0.99921174864262352	0.98787	0.83216	0.42352	D	AEFDGBCI	0.811773	0.73467	D	0.762974766057605	0.83747	8.099164	0.668520105960494	0.79996	7.201961	0.999999999894642	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	2.889000	0.48300	4.484000	0.43545	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4091	2454.45	160	chr10	124998090	.	G	A	2454.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-6.220e-01;DP=3768;ExcessHet=4.7172;FS=12.587;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.75;MQRankSum=-8.818e+00;QD=1.45;ReadPosRankSum=3.67;SOR=1.910	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:204,0:204:0:.:.:0,0,4042	2	0	9	10
chr10	124998111	124998111	A	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T622G:p.C208G	.	.	410	944	157	11	0	179	0.0865989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.792	P	0.742	P	0.000	D	1.000	D	-2.125	N	-1.16	T	-0.313	T	0.196	T	0.932	4.200	21.8	4.73	1.888	8.957	14.522	0.706	0.118222220686	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796159102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.28271	T	0.677	0.30045	T	0.792	0.44688	P	0.742	0.55764	P	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.895	0.01383	N	-1.16	0.78082	T	-10.62	0.99118	D	0.915	0.92084	-0.3132	0.74615	T	0.196	0.55013	T	10	0.8713615	0.86403	D	0.118222	0.79821	D	0.706	0.89468	0.702	0.83869	0.912513623049	0.91163	0.9715165431574718	0.97140	1.07786358497	0.77034	0.792436718941	0.80814	T	0.566859	0.85593	D	0.34296	0.86036	D	0.254862	0.85852	D	0.979450762271881	0.72840	D	0.749425	0.37065	T	0.9582798	0.97106	0.86085767	0.92237	0.9582798	0.97106	0.86085767	0.92238	-11.17	0.90895	D	.	.	0.677	0.72022	P	.;.;.;.;.;.	.;.;.;.;.;.	4.908805	0.80750	27.4	0.97552676337226596	0.34577	0.93781	0.59173	D	AEFDGBCI	0.967747	0.99022	D	-0.0331808542601439	0.40357	2.395268	0.177505344340639	0.48618	3.075226	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	8.942000	0.92506	11.101000	0.86122	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.839000	0.39591	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4091	2457.45	157	chr10	124998111	.	A	C	2457.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-1.854e+00;DP=3819;ExcessHet=4.7172;FS=10.323;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.76;MQRankSum=-8.818e+00;QD=1.45;ReadPosRankSum=4.32;SOR=1.742	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:208,0:208:0:.:.:0,0,4688	2	0	9	10
chr10	124998113	124998113	A	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T620C:p.I207T	.	.	407	952	152	11	0	174	0.0837344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.071	B	0.56	P	0.006	N	0.988	D	2.42	M	0.83	T	-0.464	T	0.283	T	0.768	3.273	16.99	4.73	1.888	7.155	14.522	0.345	0.0441406922816	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376695472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.49117	D	0.018	0.63109	D	0.009	0.16609	B	0.245	0.43514	B	0.005992	0.32354	N	0.362203	0.988384	0.40754	D	1.57	0.39626	L	0.83	0.47815	T	-2.71	0.62630	D	0.584	0.63544	-0.4637	0.69944	T	0.283	0.65458	T	10	0.6084408	0.67308	D	0.044141	0.61343	D	0.345	0.66676	0.751	0.88155	0.737279644149	0.73493	0.9229225010523135	0.92269	2.07736266856	0.94533	0.59366941452	0.52011	T	0.642362	0.89048	D	0.0826065	0.62345	D	-0.119118	0.61876	T	0.971555709838867	0.69361	D	0.751225	0.37284	T	0.56677717	0.70883	0.3280792	0.58700	0.56677717	0.70884	0.3280792	0.58699	-8.556	0.67961	D	.	.	0.481	0.69086	A	.;.;.;.;.;.	.;.;.;.;.;.	3.559859	0.50089	22.9	0.99260520779104144	0.57188	0.90885	0.52445	D	AEFDGBCI	0.920892	0.89354	D	0.260421526544683	0.54157	3.581951	0.337703125837148	0.57769	3.944058	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.143000	0.76935	7.993000	0.76119	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.563000	0.30483	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4091	2409.45	160	chr10	124998113	.	A	G	2409.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-1.285e+00;DP=3825;ExcessHet=4.7172;FS=8.581;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.76;MQRankSum=-8.818e+00;QD=1.41;ReadPosRankSum=4.07;SOR=1.744	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:212,0:212:0:.:.:0,0,4715	2	0	9	10
chr10	125002983	125002983	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A539C:p.D180A	.	.	450	846	218	8	0	234	0.121495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.926	D	0.000	D	1.000	D	3.07	M	-3.5	D	1.048	D	0.913	D	0.987	3.567	18.18	4.68	1.879	8.040	14.428	0.948	0.596276217237	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796433756	6.844e-07	6.84e-07	0	1.376e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.70582	D	0.997	0.70673	D	0.894	0.63417	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.935	0.84639	M	-3.5	0.94658	D	-7.18	0.94786	D	0.995	0.99954	1.048	0.98073	D	0.913	0.97116	D	10	0.98108125	0.98114	D	0.596276	0.96430	D	0.948	0.98990	0.847	0.95025	0.985246513857	0.98508	0.9901502538290843	0.99010	2.21030123888	0.95757	0.827131271362	0.86123	D	0.80395	0.95030	D	0.531082	0.95186	D	0.525086	0.95114	D	0.997385203838348	0.91430	D	0.69753	0.30746	T	0.9735778	0.98583	0.92888653	0.97017	0.9735778	0.98583	0.92888653	0.97018	-12.406	0.90114	D	.	.	0.981	0.91385	P	.;.;.;.;.;.	.;.;.;.;.;.	5.332404	0.89486	30	0.99357061535026048	0.60820	0.97620	0.75953	D	AEFDGBCI	0.936879	0.93385	D	0.65147023026997	0.76465	6.491341	0.533343637265574	0.70246	5.477253	0.999999999999824	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.68	4.68	0.58319	8.017000	0.88732	7.781000	0.68671	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.428	0.66804	926	0.17793	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03846	390.62	94	chr10	125002983	.	T	G	390.62	.	AC=1;AF=0.038;AN=26;BaseQRankSum=0.285;DP=2387;ExcessHet=0.0000;FS=5.481;InbreedingCoeff=-0.1351;MLEAC=1;MLEAF=0.038;MQ=54.99;MQRankSum=-5.501e+00;QD=6.40;ReadPosRankSum=-6.530e-01;SOR=1.132	GT:AD:DP:GQ:PL	./.:202,0:202:0:0,0,3334	12	0	1	8
chr10	125003003	125003003	-	GCCA	exonic	CTBP2	.	frameshift insertion	CTBP2:NM_001363508:exon3:c.518_519insTGGC:p.S174Gfs*5	.	.	408	1041	73	0	0	73	0.0338747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	268.07	94	chr10	125003003	.	G	GGCCA	268.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.970e-01;DP=2467;ExcessHet=0.1072;FS=1.838;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=56.70;MQRankSum=-4.479e+00;QD=1.48;ReadPosRankSum=2.08;SOR=0.611	GT:AD:DP:GQ:PL	0/0:203,0:203:99:0,120,1800	19	0	2	0
chr10	125003006	125003006	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A516G:p.I172M	.	.	446	735	288	11	42	352	0.174157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.328	B	0.722	P	0.000	D	1.000	D	1.225	L	0.49	T	-0.750	T	0.204	T	0.848	1.968	12.54	-0.385	0.050	-0.041	9.404	0.299	0.0321536739593	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs112239066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.08	0.63918	T	0.181	0.33195	B	0.448	0.54942	P	0.000000	0.84330	D	0.041576	0.999844	0.50061	D	0.75	0.19020	N	0.49	0.55775	T	-2.64	0.58569	D	0.836	0.83269	-0.7500	0.57935	T	0.204	0.56197	T	10	0.6425146	0.69138	D	0.032154	0.54058	D	0.299	0.61955	0.608	0.74063	0.888756313204	0.88766	0.8899222963871994	0.88962	1.97030917324	0.93550	0.763966917992	0.76522	T	0.498739	0.82005	T	0.153991	0.69642	D	-0.0165792	0.69254	D	0.892641007900238	0.54376	D	0.971703	0.89738	D	0.900253	0.91405	0.73775256	0.84500	0.900253	0.91406	0.73775256	0.84501	-11.638	0.83043	D	.	.	0.704	0.73111	P	.;.;.;.;.;.	.;.;.;.;.;.	3.009532	0.40238	21.1	0.98800960143032701	0.46445	0.70557	0.34640	D	AEFDGBCI	0.375410	0.45995	N	-0.354523303243395	0.27107	1.484558	-0.382971277888603	0.25504	1.402991	0.999987104814068	0.51787	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	-0.385	0.11849	0.087000	0.14801	-2.864000	0.03283	0.661000	0.55757	0.984000	0.35821	0.000000	0.08366	0.987000	0.62547	0.1048:0.0:0.556:0.3392	9.404	0.37616	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1786	1287.27	108	chr10	125003006	.	TATCC	CATCC,T	1287.27	.	AC=4,1;AF=0.143,0.036;AN=28;BaseQRankSum=-2.008e+00;DP=2685;ExcessHet=1.1607;FS=1.860;InbreedingCoeff=-0.2572;MLEAC=5,1;MLEAF=0.179,0.036;MQ=57.16;MQRankSum=-5.258e+00;QD=2.83;ReadPosRankSum=0.793;SOR=0.977	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:212,0,0:212:0:.:.:0,0,3021,0,3021,3021	9	0	4	7
chr10	125003007	125003010	ATCC	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon3:c.512_515del:p.R171Qfs*155	.	.	446	735	288	11	42	352	0.174157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1786	1287.27	108	chr10	125003006	.	TATCC	CATCC,T	1287.27	.	AC=4,1;AF=0.143,0.036;AN=28;BaseQRankSum=-2.008e+00;DP=2685;ExcessHet=1.1607;FS=1.860;InbreedingCoeff=-0.2572;MLEAC=5,1;MLEAF=0.179,0.036;MQ=57.16;MQRankSum=-5.258e+00;QD=2.83;ReadPosRankSum=0.793;SOR=0.977	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:212,0,0:212:0:.:.:0,0,3021,0,3021,3021	9	0	4	7
chr10	125003008	125003008	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A514G:p.I172V	.	.	445	756	296	11	14	332	0.17377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.269	B	0.279	B	0.000	D	1.000	D	0.59	N	0.75	T	-0.924	T	0.114	T	0.644	1.971	12.55	4.94	1.998	8.040	14.902	0.268	0.00473531755394	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs112508291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.49117	T	0.225	0.53426	T	0.077	0.31731	B	0.17	0.40265	B	0.000000	0.84330	D	0.041576	0.999999	0.58761	D	0.695	0.17993	N	0.75	0.50192	T	-0.79	0.24026	N	0.556	0.58202	-0.9237	0.45041	T	0.114	0.40582	T	10	0.38906825	0.54757	T	0.004735	0.11784	T	0.268	0.58254	0.543	0.65589	0.617811438573	0.61472	0.8191908894802049	0.81876	0.844564219319	0.68219	0.727838099003	0.71190	T	0.212424	0.57347	T	0.0218691	0.54635	T	-0.206363	0.54044	T	0.846796572208405	0.49891	D	0.80082	0.44648	T	0.6371357	0.74678	0.6131621	0.77490	0.6371357	0.74680	0.6131621	0.77491	-10.157	0.74846	D	.	.	0.354	0.56812	A	.;.;.;.;.;.	.;.;.;.;.;.	4.218404	0.63791	24.6	0.9760612770993129	0.34876	0.96140	0.67716	D	AEFDGBCI	0.953944	0.97066	D	-0.0415507725916174	0.39979	2.366619	0.072950189852906	0.43195	2.62624	0.999999999999936	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.94	0.64645	6.271000	0.72566	7.738000	0.67953	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	14.902	0.70330	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1786	504.44	107	chr10	125003008	.	T	C,*	504.44	.	AC=4,1;AF=0.143,0.036;AN=28;BaseQRankSum=-2.114e+00;DP=2666;ExcessHet=1.1607;FS=1.860;InbreedingCoeff=-0.2600;MLEAC=5,1;MLEAF=0.179,0.036;MQ=57.08;MQRankSum=-5.258e+00;QD=1.11;ReadPosRankSum=1.08;SOR=0.976	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:211,0,0:211:0:.:.:0,0,3043,0,3043,3043	9	0	4	7
chr10	125003008	125003008	T	0	exonic	CTBP2	.	.	.	.	.	445	756	296	11	14	332	0.17377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1786	504.44	107	chr10	125003008	.	T	C,*	504.44	.	AC=4,1;AF=0.143,0.036;AN=28;BaseQRankSum=-2.114e+00;DP=2666;ExcessHet=1.1607;FS=1.860;InbreedingCoeff=-0.2600;MLEAC=5,1;MLEAF=0.179,0.036;MQ=57.08;MQRankSum=-5.258e+00;QD=1.11;ReadPosRankSum=1.08;SOR=0.976	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:211,0,0:211:0:.:.:0,0,3043,0,3043,3043	9	0	4	7
chr10	125003010	125003010	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.G512A:p.R171Q	.	.	444	756	297	11	14	333	0.174222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.955	D	0.000	D	1.000	D	2.595	M	0.74	T	-0.368	T	0.302	T	0.95	3.888	19.76	4.04	1.230	7.818	13.592	0.504	0.05280934696	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs760489730	3.421e-06	3.42e-06	4.084e-06	2.751e-06	2.698e-06	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.49117	D	0.097	0.47828	T	0.981	0.70673	D	0.87	0.69585	P	0.000002	0.62929	D	0.103452	0.999999	0.58761	D	1.885	0.50048	L	0.74	0.50459	T	-3.3	0.70553	D	0.879	0.89020	-0.3679	0.73025	T	0.302	0.67288	T	10	0.8397628	0.83130	D	0.052809	0.65217	D	0.504	0.78600	0.649	0.78648	0.920337149778	0.91953	0.9496583447662756	0.94948	2.13197071687	0.95171	0.73884499073	0.72801	T	0.615991	0.87897	D	0.255676	0.79129	D	0.129484	0.78858	D	0.985857844352722	0.76728	D	0.876112	0.58827	D	0.93815976	0.95059	0.8432051	0.91051	0.93815976	0.95060	0.8432051	0.91051	-13.433	0.93329	D	.	.	0.974	0.90036	P	.;.;.;.;.;.	.;.;.;.;.;.	5.858587	0.93846	33	0.99909411540893078	0.97949	0.95340	0.64339	D	AEFDGBCI	0.924502	0.90264	D	0.389332597998194	0.60844	4.277879	0.288795626305503	0.54883	3.652246	0.999999999992808	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.04	0.46262	6.159000	0.71664	3.924000	0.40490	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9243:0.0:0.0757	13.592	0.61434	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	517.97	102	chr10	125003010	.	C	T,*	517.97	.	AC=5,1;AF=0.179,0.036;AN=28;BaseQRankSum=-1.274e+00;DP=2706;ExcessHet=1.7912;FS=3.146;InbreedingCoeff=-0.2869;MLEAC=6,1;MLEAF=0.214,0.036;MQ=57.13;MQRankSum=-5.988e+00;QD=0.93;ReadPosRankSum=0.743;SOR=1.184	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:210,0,0:210:0:.:.:0,0,2649,0,2649,2649	8	0	5	7
chr10	125003010	125003010	C	0	exonic	CTBP2	.	.	.	.	.	444	756	297	11	14	333	0.174222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	517.97	102	chr10	125003010	.	C	T,*	517.97	.	AC=5,1;AF=0.179,0.036;AN=28;BaseQRankSum=-1.274e+00;DP=2706;ExcessHet=1.7912;FS=3.146;InbreedingCoeff=-0.2869;MLEAC=6,1;MLEAF=0.214,0.036;MQ=57.13;MQRankSum=-5.988e+00;QD=0.93;ReadPosRankSum=0.743;SOR=1.184	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:210,0,0:210:0:.:.:0,0,2649,0,2649,2649	8	0	5	7
chr10	125003014	125003014	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.G508A:p.V170M	.	.	405	1091	23	3	0	29	0.0131162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.97	D	0.625	P	0.000	D	1.000	D	2.165	M	0.66	T	-0.623	T	0.217	T	0.727	1.918	12.37	4.94	2.468	5.667	18.537	0.250	0.0370058041398	.	0.000199681	4.96e-05	0	0.0004	0	0	1.506e-05	0	0	4.53e-05	7	154602	rs188280364	1.505e-05	1.505e-05	1.77e-05	1.238e-05	0.0002	9.85e-06	8.42e-06	0.0001	7.816e-05	5.974e-05	0.0002	0	0	0	0	5.396e-06	4.968e-05	2.319e-05	3.938e-05	3.937e-05	3.853e-05	4.027e-05	0.0002	1.714e-05	1.128e-05	2.258e-05	9.06e-06	0	0	0.0001	0	0.0002	0	0	2.939e-05	0.0005	0	0.002	0.72154	D	0.186	0.48855	T	0.807	0.56973	P	0.221	0.51564	B	0.000009	0.62929	D	0.111475	0.999993	0.58761	D	1.965	0.53209	M	0.66	0.52416	T	-2.61	0.56144	D	0.688	0.69737	-0.6231	0.63860	T	0.217	0.57915	T	10	0.3359008	0.50739	T	0.037006	0.57349	D	0.250	0.55888	.	.	0.584855459958	0.58159	0.8951679175218594	0.89487	1.86564369553	0.92450	0.811904668808	0.83784	D	0.555273	0.85014	D	-0.113851	0.34133	T	-0.0995938	0.63430	T	0.269189680777983	0.23712	T	0.987401	0.95706	D	0.944727	0.95729	0.8822982	0.93723	0.944727	0.95730	0.8822982	0.93724	-11.379	0.86272	D	.	.	0.883	0.81672	P	.;.;.;.;.;.	.;.;.;.;.;.	5.216452	0.87545	29.3	0.99194990165840713	0.55112	0.86130	0.45353	D	AEFDGBCI	0.715390	0.66756	D	0.391390595650678	0.60954	4.290383	0.358551920301824	0.59023	4.076952	0.999999999874961	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.94	0.64645	4.591000	0.60729	4.758000	0.44698	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	18.537	0.90965	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02632	48.72	93	chr10	125003014	.	C	T	48.72	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.907e+00;DP=2502;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=1;MLEAF=0.026;MQ=56.76;MQRankSum=-8.421e+00;QD=0.58;ReadPosRankSum=1.34;SOR=0.922	GT:AD:DP:GQ:PL	0/0:204,0:204:97:0,97,4898	18	0	1	2
chr10	125003036	125003036	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.G486T:p.K162N	.	.	419	630	463	10	0	483	0.277108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.986	D	0.89	P	0.000	N	1.000	D	1.515	L	0.72	T	-0.828	T	0.177	T	0.518	2.828	15.42	4.03	1.204	2.555	6.007	0.295	0.0466189854146	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs201760950	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.04	0.43708	D	0.12	0.58089	T	0.986	0.61523	D	0.89	0.63157	P	0.000000	0.84330	N	0.042861	0.999994	0.58761	D	1.115	0.28702	L	0.72	0.50976	T	-4.42	0.80425	D	0.797	0.79696	-0.8284	0.53403	T	0.177	0.52272	T	10	0.7330282	0.74429	D	0.046619	0.62540	D	0.295	0.61502	0.506	0.60078	0.669401567584	0.66661	0.9683590239784833	0.96823	1.29775370337	0.82942	0.700282335281	0.67184	T	0.552971	0.84897	D	-0.0504497	0.44379	T	-0.310244	0.43632	T	0.989160597324371	0.79417	D	0.748325	0.36895	T	0.7315896	0.79813	0.47296822	0.69449	0.7315896	0.79814	0.47296822	0.69450	-15.293	0.98237	D	.	.	0.987	0.92764	P	.;.;.;.;.;.	.;.;.;.;.;.	4.828208	0.78704	27.0	0.99659729855249335	0.77883	0.88851	0.48981	D	AEFDGBCI	0.619890	0.60515	D	0.116058801363205	0.47212	2.950075	0.0734135689233688	0.43216	2.628043	0.999999959797154	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.03	0.46115	2.713000	0.46862	1.753000	0.28490	-0.180000	0.10397	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.1568:0.6905:0.0:0.1528	6.007	0.18780	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1786	1327.89	96	chr10	125003036	.	C	A	1327.89	.	AC=5;AF=0.179;AN=28;BaseQRankSum=-2.315e+00;DP=2688;ExcessHet=1.1607;FS=7.390;InbreedingCoeff=-0.2539;MLEAC=7;MLEAF=0.250;MQ=56.90;MQRankSum=-6.218e+00;QD=2.82;ReadPosRankSum=1.58;SOR=1.472	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:193,0:193:0:.:.:0,0,2567	9	0	5	7
chr10	125003062	125003062	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A460T:p.T154S	.	.	411	643	453	15	0	483	0.273036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.041	B	0.069	B	0.000	N	0.999	D	1.21	L	-1.93	D	-0.330	T	0.453	T	0.622	2.408	14.01	3.79	0.824	5.018	11.226	0.491	0.0483128458714	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs3198936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.41637	T	0.522	0.36901	T	0.007	0.21357	B	0.008	0.27757	B	0.000000	0.84330	N	0.044612	0.996569	0.47043	D	1.065	0.27018	L	-1.93	0.84842	D	-3.0	0.65283	D	0.671	0.67908	-0.3304	0.74122	T	0.453	0.78662	T	10	0.56667346	0.65089	D	0.048313	0.63318	D	0.491	0.77783	0.57	0.69299	0.899189000732	0.89818	0.8017034108621458	0.80124	0.863764543004	0.69092	0.755492687225	0.75259	T	0.411071	0.76563	T	0.128098	0.67174	D	-0.0537727	0.66764	D	0.93286007642746	0.59920	D	0.675032	0.28342	T	0.4517838	0.64154	0.32242507	0.58182	0.4517838	0.64154	0.32242507	0.58182	-10.785	0.78466	D	.	.	0.259	0.49334	B	.;.;.;.;.;.	.;.;.;.;.;.	5.379924	0.90166	31	0.92993315479242666	0.22579	0.88414	0.48331	D	AEFDGBCI	0.628457	0.61053	D	-0.327467056762658	0.28109	1.547675	-0.174877914286987	0.32463	1.847172	0.999999921045429	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	4.998000	0.63670	6.076000	0.53302	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1345.64	103	chr10	125003062	.	T	A	1345.64	.	AC=6;AF=0.214;AN=28;BaseQRankSum=-1.762e+00;DP=2793;ExcessHet=1.7912;FS=10.332;InbreedingCoeff=-0.3044;MLEAC=8;MLEAF=0.286;MQ=57.06;MQRankSum=-6.687e+00;QD=2.31;ReadPosRankSum=1.25;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:183,0:183:0:.:.:0,0,2256	8	0	6	7
chr10	125003065	125003065	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A457T:p.I153F	.	.	409	645	453	15	0	483	0.27242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.972	D	0.946	D	0.000	N	1.000	D	1.455	L	0.6	T	-0.651	T	0.246	T	0.862	4.563	24.7	3.79	0.824	8.033	11.226	0.503	0.0700064426899	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs75794788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.25	0.48855	T	0.964	0.55854	D	0.865	0.63213	P	0.000000	0.84330	N	0.045107	1	0.81001	D	1.03	0.25572	L	0.6	0.53731	T	-3.56	0.72471	D	0.881	0.88909	-0.6507	0.62684	T	0.246	0.61530	T	10	0.75938225	0.76228	D	0.070006	0.70884	D	0.503	0.78538	0.497	0.58678	0.79712420435	0.79523	0.952589839956618	0.95242	2.43300071254	0.97277	0.815389215946	0.84320	D	0.550178	0.84755	D	0.238164	0.77489	D	0.10433	0.77195	D	0.969830691814423	0.68732	D	0.789321	0.42944	T	0.9161864	0.92879	0.80227107	0.88412	0.9161864	0.92880	0.80227107	0.88413	-16.606	0.99306	D	.	.	0.965	0.88639	P	.;.;.;.;.;.	.;.;.;.;.;.	5.439656	0.90921	32	0.9869222858790262	0.44780	0.95041	0.63223	D	AEFDGBCI	0.932153	0.92207	D	0.318344020359099	0.57088	3.875162	0.3071809800043	0.55960	3.758966	0.999999998494387	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	7.961000	0.87447	6.071000	0.53257	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1343.45	102	chr10	125003065	.	T	A	1343.45	.	AC=6;AF=0.214;AN=28;BaseQRankSum=-1.729e+00;DP=2798;ExcessHet=1.7912;FS=10.427;InbreedingCoeff=-0.3097;MLEAC=8;MLEAF=0.286;MQ=57.07;MQRankSum=-6.630e+00;QD=2.30;ReadPosRankSum=1.20;SOR=1.604	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:184,0:184:0:.:.:0,0,2307	8	0	6	7
chr10	125003091	125003091	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.C431T:p.A144V	.	.	423	874	217	8	0	233	0.117617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.997	D	0.948	D	0.000	D	1.000	D	1.525	L	0.64	T	-0.734	T	0.234	T	0.93	3.734	18.96	4.68	2.317	9.869	17.956	0.428	0.0396646121041	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs3198935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.04	0.53788	D	0.997	0.70673	D	0.9	0.67350	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.63	0.41750	L	0.64	0.52867	T	-3.59	0.72353	D	0.83	0.86404	-0.7342	0.58751	T	0.234	0.60063	T	10	0.85133255	0.84313	D	0.039665	0.58940	D	0.428	0.73517	0.615	0.74884	0.805301142055	0.80348	0.9739020719154817	0.97380	1.79913636405	0.91619	0.833252906799	0.87062	D	0.558733	0.85191	D	0.278003	0.81145	D	0.161556	0.80903	D	0.981222689151764	0.73791	D	0.836316	0.50742	T	0.71443444	0.78852	0.29747087	0.55780	0.71443444	0.78854	0.29747087	0.55779	-11.965	0.84680	D	.	.	0.991	0.94980	P	.;.;.;.;.;.	.;.;.;.;.;.	4.805965	0.78137	26.8	0.99882348519737318	0.95813	0.98748	0.86347	D	AEFDGBCI	0.955612	0.97357	D	0.457477404135832	0.64629	4.721769	0.367611348405123	0.59576	4.136584	1.0	0.98316	0.645754	0.44609	0	0.633656	0.55848	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	4.68	4.68	0.58319	10.003000	0.99689	11.683000	0.94248	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.222000	0.22517	0.0:0.0:1.0:0.0	17.956	0.88988	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03846	231.67	104	chr10	125003091	.	G	A	231.67	.	AC=1;AF=0.038;AN=26;BaseQRankSum=1.91;DP=2468;ExcessHet=0.0000;FS=2.411;InbreedingCoeff=-0.1370;MLEAC=1;MLEAF=0.038;MQ=56.54;MQRankSum=-5.782e+00;QD=3.22;ReadPosRankSum=-2.481e+00;SOR=1.067	GT:AD:DP:GQ:PL	./.:170,0:170:0:0,0,2313	12	0	1	8
chr10	125003357	125003357	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C398T:p.T133M	.	.	424	862	235	1	0	237	0.120857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.934	D	0.000	D	1.000	D	1.89	L	-1.93	D	0.559	D	0.703	D	0.822	3.902	19.84	4.4	2.174	9.858	17.367	0.785	0.338057885342	.	.	1.698e-05	0	0	0	0	3.122e-05	0	0	1.29e-05	2	154602	rs768573864	8.23e-06	8.209e-06	1.092e-05	5.513e-06	8.998e-06	4.39e-06	3.47e-06	4.55e-06	3.32e-06	0	0	0	0	1.905e-05	0	8.998e-06	1.662e-05	0	6.571e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.78490	D	0.041	0.58089	D	0.924	0.73220	P	0.646	0.66904	P	0.000000	0.84330	D	0.047645	1	0.81001	D	1.975	0.53506	M	-1.93	0.84842	D	-5.55	0.89152	D	0.825	0.82964	0.559	0.91361	D	0.703	0.89790	D	10	0.84322035	0.83481	D	0.338058	0.91938	D	0.785	0.92868	0.55	0.66576	0.871695389801	0.87044	0.8858696461970613	0.88555	2.04020034352	0.94242	0.847845315933	0.89288	D	0.769737	0.93827	D	0.312043	0.83899	D	0.210452	0.83688	D	0.965979218482971	0.67436	D	0.89801	0.64352	D	0.83755374	0.86434	0.83579093	0.90562	0.83755374	0.86436	0.83579093	0.90562	-13.803	0.92478	D	.	.	0.915	0.83817	P	.;.;.;.;.;.	.;.;.;.;.;.	5.948125	0.94152	33	0.9988098438978944	0.95733	0.97166	0.73078	D	AEFDGBHCI	0.946022	0.95501	D	0.641428984643706	0.75816	6.373162	0.605033197001249	0.75304	6.287037	1.0	0.98316	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.4	4.4	0.52402	9.992000	0.99232	11.673000	0.94126	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	17.367	0.87255	923	0.18507	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	50.02	71	chr10	125003357	.	G	A	50.02	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-7.070e-01;DP=1673;ExcessHet=0.0000;FS=24.945;InbreedingCoeff=-0.0909;MLEAC=1;MLEAF=0.031;MQ=59.30;MQRankSum=-8.968e+00;QD=0.51;ReadPosRankSum=-2.365e+00;SOR=3.253	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:74,4:78:55:0|1:125003357_G_A:0,55,3150:125003357	15	0	1	5
chr10	125003368	125003368	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C387G:p.D129E	.	.	430	852	239	1	0	241	0.123907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.34	B	0.426	B	0.000	D	1.000	D	2.07	M	0.84	T	-0.808	T	0.168	T	0.718	2.749	15.15	-4.33	-0.867	-0.788	14.997	0.229	0.0278736828157	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.52492	D	0.035	0.76473	D	0.057	0.33445	B	0.084	0.45295	B	0.000001	0.84330	D	0.093937	0.998215	0.47795	D	1.255	0.31814	L	0.84	0.47477	T	-3.72	0.73151	D	0.731	0.74280	-0.8081	0.54665	T	0.168	0.50745	T	10	0.57244885	0.65394	D	0.027874	0.50634	D	0.229	0.52916	0.567	0.68901	0.742667268481	0.74035	0.9372575970872389	0.93705	0.839287628383	0.67962	0.822298943996	0.85381	D	0.532581	0.83851	D	-0.00859042	0.50463	T	-0.250116	0.49806	T	0.95814836025238	0.65193	D	0.816918	0.54045	T	0.61954224	0.73738	0.49464875	0.70773	0.61954224	0.73740	0.49464875	0.70773	-13.991	0.95421	D	.	.	0.998	0.97084	P	.;.;.;.;.;.	.;.;.;.;.;.	1.288935	0.16893	12.83	0.98899659867088185	0.48163	0.32479	0.24596	N	AEFDGBHCI	0.425946	0.49050	N	-0.575959099119209	0.19677	1.031687	-0.660887068078052	0.17942	0.9563054	0.999999886987385	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	-4.33	0.03423	-0.760000	0.04861	-7.833000	0.01078	0.662000	0.56354	0.017000	0.19353	0.000000	0.08366	0.996000	0.76049	0.7124:0.0:0.2876:0.0	14.997	0.71096	923	0.18507	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.125	355.62	71	chr10	125003368	.	G	C	355.62	.	AC=4;AF=0.125;AN=32;BaseQRankSum=0.397;DP=1891;ExcessHet=0.6776;FS=7.526;InbreedingCoeff=-0.1824;MLEAC=5;MLEAF=0.156;MQ=59.18;MQRankSum=-9.875e+00;QD=0.84;ReadPosRankSum=-2.533e+00;SOR=2.009	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,9:86:99:0|1:125003357_G_A:146,0,3200:125003357	12	0	4	5
chr10	125003382	125003382	C	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.373delG:p.V125Wfs*17	.	.	420	832	265	5	0	275	0.141826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1000.95	71	chr10	125003381	.	AC	A	1000.95	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-1.186e+00;DP=1911;ExcessHet=2.5830;FS=6.426;InbreedingCoeff=-0.2047;MLEAC=7;MLEAF=0.167;MQ=59.12;MQRankSum=-9.613e+00;QD=1.33;ReadPosRankSum=-1.280e+00;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,10:94:99:0|1:125003381_AC_A:167,0,3487:125003381	14	0	7	0
chr10	125003410	125003410	C	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.G345C:p.E115D	.	.	421	824	273	4	0	281	0.145671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.421	B	0.528	P	0.000	D	1.000	D	2.77	M	0.68	T	-0.558	T	0.255	T	0.827	4.931	28.6	3.8	1.098	3.317	13.510	0.261	0.0418347474684	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs74705267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.088	0.62352	T	0.043	0.35387	B	0.17	0.48482	B	0.000054	0.53742	D	0.195283	0.999999	0.58761	D	0.98	0.24916	L	0.68	0.51952	T	-2.71	0.59710	D	0.686	0.73555	-0.5581	0.66476	T	0.255	0.62530	T	10	0.56158	0.64817	D	0.041835	0.60142	D	0.261	0.57352	0.434	0.48500	0.881554203603	0.88039	0.972171025341375	0.97206	1.7143308071	0.90477	0.748663306236	0.74250	T	0.62925	0.88488	D	0.139244	0.68253	D	-0.0377626	0.67852	D	0.957904279232025	0.65131	D	0.844016	0.52137	T	0.77675706	0.82455	0.4746194	0.69552	0.77675706	0.82456	0.4746194	0.69552	-14.274	0.93913	D	.	.	0.998	0.98268	P	.;.;.;.;.;.	.;.;.;.;.;.	4.166684	0.62622	24.5	0.99797317996392532	0.88283	0.94867	0.62605	D	AEFDGBHCI	0.781566	0.71311	D	0.172151716873866	0.49864	3.182254	0.205790313476848	0.50167	3.211761	0.999999999997825	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	3.8	0.42887	5.029000	0.63903	1.014000	0.23354	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9225:0.0:0.0775	13.510	0.60961	923	0.18507	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	64.02	71	chr10	125003410	.	C	G	64.02	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-1.960e+00;DP=1870;ExcessHet=0.1072;FS=11.938;InbreedingCoeff=-0.1198;MLEAC=2;MLEAF=0.063;MQ=59.00;MQRankSum=-9.078e+00;QD=0.25;ReadPosRankSum=1.71;SOR=1.794	GT:AD:DP:GQ:PL	0/0:88,10:98:47:0,47,2360	14	0	2	5
chr10	125003448	125003448	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C307G:p.L103V	.	.	415	822	281	4	0	289	0.149509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.997	D	0.971	D	0.000	D	1.000	D	1.955	M	0.56	T	-0.711	T	0.257	T	0.772	1.617	11.36	1.83	0.176	2.720	9.074	0.276	0.0482046556134	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs3198920	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.46129	T	0.06	0.70582	T	0.977	0.70673	D	0.695	0.72444	P	0.000204	0.47681	D	0.143597	0.999973	0.53665	D	1.24	0.30952	L	0.56	0.54540	T	-2.77	0.59545	D	0.749	0.74918	-0.7112	0.59893	T	0.257	0.62699	T	10	0.56829476	0.65175	D	0.048205	0.63269	D	0.276	0.59253	0.336	0.32491	0.772200913293	0.77011	0.9284518054969177	0.92823	1.54105169968	0.87712	0.653429269791	0.60473	T	0.450833	0.79179	T	0.0930372	0.63530	D	-0.104135	0.63075	T	0.921929836273193	0.58181	D	0.835916	0.50694	T	0.38344187	0.59564	0.2654763	0.52381	0.38344187	0.59565	0.2654763	0.52380	-11.24	0.86033	D	.	.	0.857	0.85926	P	.;.;.;.;.;.	.;.;.;.;.;.	4.413740	0.68303	25.2	0.95986553857963608	0.28374	0.93332	0.57934	D	AEFDBHCI	0.721280	0.67158	D	0.197166407657861	0.51063	3.290622	0.0912559216929815	0.44107	2.69894	0.999999466762818	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	1.83	0.24279	4.055000	0.57153	3.753000	0.39691	-0.154000	0.11915	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.3038:0.0:0.6962:0.0	9.074	0.35672	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.25	1450.32	72	chr10	125003448	.	G	C	1450.32	.	AC=8;AF=0.250;AN=32;BaseQRankSum=-9.980e-01;DP=1678;ExcessHet=3.5521;FS=10.491;InbreedingCoeff=-0.3485;MLEAC=10;MLEAF=0.313;MQ=59.04;MQRankSum=-7.966e+00;QD=2.01;ReadPosRankSum=1.23;SOR=1.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,10:91:99:0|1:125003425_G_C:176,0,3371:125003425	8	0	8	5
chr10	125003450	125003450	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C305T:p.P102L	.	.	415	825	279	3	0	285	0.147287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	N	1.000	D	1.955	M	0.4	T	-0.394	T	0.310	T	0.845	3.342	17.25	3.81	1.107	9.869	15.129	0.538	0.184870613505	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796256730	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.68238	D	0.003	0.83351	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	N	0.048585	1	0.81001	D	2.215	0.62545	M	0.4	0.57261	T	-9.29	0.98415	D	0.771	0.82559	-0.3944	0.72203	T	0.310	0.68003	T	10	0.77988756	0.77765	D	0.184871	0.85777	D	0.538	0.80664	0.515	0.61459	0.793810481979	0.79189	0.9928132138473921	0.99277	2.02998117833	0.94073	0.801052808762	0.82123	T	0.591617	0.86780	D	0.254993	0.79067	D	0.128504	0.78794	D	0.999326944351196	0.96966	D	0.948805	0.80311	D	0.80739933	0.84383	0.63186806	0.78521	0.80739933	0.84384	0.63186806	0.78522	-10.77	0.87601	D	.	.	0.981	0.91262	P	.;.;.;.;.;.	.;.;.;.;.;.	5.876492	0.93912	33	0.99537415390314665	0.70274	0.97949	0.78358	D	AEFDBHCI	0.949159	0.96151	D	0.396560092074224	0.61236	4.321908	0.310569273267847	0.56158	3.779008	0.999999999991253	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	3.81	0.43020	10.003000	0.99689	11.566000	0.93257	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1423:0.8577:0.0	15.129	0.72177	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2188	661.1	67	chr10	125003450	.	G	A	661.1	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-1.342e+00;DP=1603;ExcessHet=2.5830;FS=2.196;InbreedingCoeff=-0.2922;MLEAC=8;MLEAF=0.250;MQ=59.24;MQRankSum=-8.454e+00;QD=1.06;ReadPosRankSum=0.993;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,9:87:99:0|1:125003425_G_C:143,0,3248:125003425	9	0	7	5
chr10	125003454	125003454	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.301delC:p.R101Afs*19	.	.	418	851	251	2	0	255	0.130301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.007e-07	3.42e-06	0	1.411e-06	.	0	0	.	.	0	0	0	0	1.924e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	626.51	67	chr10	125003453	.	CG	C	626.51	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-1.108e+00;DP=1598;ExcessHet=2.5830;FS=2.198;InbreedingCoeff=-0.1999;MLEAC=7;MLEAF=0.167;MQ=59.25;MQRankSum=-8.630e+00;QD=0.99;ReadPosRankSum=0.814;SOR=0.914	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,9:86:99:0|1:125003425_G_C:146,0,3206:125003425	14	0	7	0
chr10	125003460	125003460	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C295A:p.H99N	.	.	415	860	246	1	0	248	0.126016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.926	P	0.711	P	0.000	D	1.000	D	1.24	L	-1.65	D	0.171	D	0.548	D	0.535	3.112	16.40	4.72	2.350	9.476	18.050	0.554	0.0669258259103	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs796388243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.56456	D	0.108	0.50514	T	0.168	0.51467	B	0.138	0.54536	B	0.000186	0.48115	D	0.218873	0.999987	0.54805	D	2.135	0.59519	M	-1.65	0.83737	D	-4.47	0.78388	D	0.766	0.79214	0.171	0.85422	D	0.548	0.83407	D	10	0.6328803	0.68617	D	0.066926	0.70016	D	0.554	0.81601	0.416	0.45544	0.767328355039	0.76520	0.9728822579583015	0.97277	2.0305426451	0.94091	0.756400108337	0.75394	T	0.434559	0.78160	T	0.131495	0.67506	D	-0.0488934	0.67098	D	0.986545503139496	0.77236	D	0.927207	0.73169	D	0.4496781	0.64020	0.3526759	0.60841	0.4496781	0.64021	0.3526759	0.60840	-9.806	0.74846	D	.	.	0.451	0.62246	A	.;.;.;.;.;.	.;.;.;.;.;.	5.089181	0.84970	28.5	0.977327532623396	0.35628	0.98388	0.82268	D	AEFDBHCI	0.954424	0.97151	D	0.316318154352101	0.56987	3.864403	0.376191892726831	0.60101	4.194	1.0	0.98316	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	7.744000	0.83944	8.399000	0.77102	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2188	661.11	63	chr10	125003460	.	G	T	661.11	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-1.362e+00;DP=1555;ExcessHet=2.5830;FS=3.478;InbreedingCoeff=-0.2923;MLEAC=8;MLEAF=0.250;MQ=59.26;MQRankSum=-8.513e+00;QD=1.08;ReadPosRankSum=0.369;SOR=0.956	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,9:84:99:0|1:125003425_G_C:152,0,3122:125003425	9	0	7	5
chr10	125003466	125003466	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C289A:p.P97T	.	.	410	877	234	1	0	236	0.118593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.987	D	0.766	P	0.000	D	1.000	D	1.67	L	-2.02	D	0.518	D	0.688	D	0.829	3.996	20.5	4.72	2.350	9.750	18.050	0.847	0.176108028638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.025	0.64786	D	0.948	0.61912	P	0.514	0.56676	P	0.000117	0.50451	D	0.214717	1	0.81001	D	2.215	0.62545	M	-2.13	0.86349	D	-6.05	0.89796	D	0.689	0.82559	0.518	0.90792	D	0.688	0.89243	D	10	0.8365156	0.82808	D	0.176108	0.85198	D	0.847	0.95249	0.689	0.82653	0.928801495259	0.92807	0.9831479306831125	0.98306	2.09264733632	0.94735	0.676425933838	0.63756	T	0.542494	0.84360	D	0.336779	0.85619	D	0.245983	0.85429	D	0.99172455072403	0.82061	D	0.955104	0.83186	D	0.7142099	0.78840	0.5802387	0.75671	0.7142099	0.78841	0.5802387	0.75672	-5.592	0.70616	T	.	.	0.756	0.75321	P	.;.;.;.;.;.	.;.;.;.;.;.	5.016100	0.83334	28.0	0.99771334295315606	0.85918	0.97924	0.78163	D	AEFDBHCI	0.917308	0.88472	D	0.627757786435649	0.74937	6.218313	0.643900769394684	0.78156	6.820169	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	9.883000	0.98528	11.568000	0.93268	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1944	704.07	63	chr10	125003466	.	G	T	704.07	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-1.194e+00;DP=1529;ExcessHet=2.5830;FS=5.480;InbreedingCoeff=-0.2613;MLEAC=8;MLEAF=0.222;MQ=59.27;MQRankSum=-8.513e+00;QD=1.19;ReadPosRankSum=0.161;SOR=1.028	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,9:79:99:0|1:125003425_G_C:167,0,2912:125003425	11	0	7	3
chr10	125003468	125003468	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.G287T:p.G96V	.	.	413	879	229	1	0	231	0.116139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.986	D	0.674	P	0.000	D	1.000	D	1.795	L	-2.03	D	0.404	D	0.665	D	0.926	3.651	18.56	4.72	2.350	5.914	18.050	0.808	0.205810925829	7.9e-05	.	9.126e-06	0	0	0	0	1.654e-05	0	0	6.5e-06	1	154602	rs368195398	7.039e-07	2.052e-06	0	1.418e-06	1.229e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.229e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	4.831e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.831e-05	0	0	0	0	0	0	0	0	0	0.002	0.91255	D	0.003	0.83351	D	0.758	0.56768	P	0.345	0.52270	B	0.000015	0.62929	D	0.153474	1	0.81001	D	2.215	0.62545	M	-2.07	0.87116	D	-6.7	0.93786	D	0.885	0.91162	0.404	0.89161	D	0.665	0.88381	D	10	0.9020648	0.89569	D	0.205811	0.87005	D	0.808	0.93777	.	.	0.940972417782	0.94036	0.9830957384624965	0.98301	0.580823813372	0.53909	0.771838724613	0.77700	T	0.670241	0.90204	D	0.414705	0.90739	D	0.357919	0.90623	D	0.97039270401001	0.68933	D	0.830817	0.50504	T	0.82183003	0.85343	0.73988026	0.84624	0.82183003	0.85344	0.73988026	0.84625	-14.257	0.93861	D	.	.	0.903	0.82932	P	.;.;.;.;.;.	.;.;.;.;.;.	5.052849	0.84171	28.2	0.99572167466560413	0.72440	0.94853	0.62557	D	AEFDBHCI	0.865967	0.78524	D	0.502445831928042	0.67234	5.054572	0.519224250986091	0.69285	5.338541	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	4.865000	0.62695	5.821000	0.50083	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2059	682.08	63	chr10	125003468	.	C	A	682.08	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-9.480e-01;DP=1516;ExcessHet=2.5830;FS=5.480;InbreedingCoeff=-0.2727;MLEAC=8;MLEAF=0.235;MQ=59.27;MQRankSum=-8.454e+00;QD=1.16;ReadPosRankSum=-3.400e-02;SOR=0.988	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,9:74:99:0|1:125003425_G_C:182,0,2702:125003425	10	0	7	4
chr10	125003470	125003470	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C285A:p.N95K	.	.	414	877	230	1	0	232	0.116818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.936	P	0.548	P	0.000	N	1.000	D	1.795	L	-1.74	D	-0.145	T	0.509	D	0.535	2.434	14.10	2.83	0.513	1.589	5.756	0.443	0.196846434944	.	.	.	.	.	.	.	.	.	.	.	.	.	rs797010536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.53172	T	0.133	0.38160	T	0.024	0.52359	B	0.023	0.49136	B	0.000107	0.50451	N	0.228572	0.999907	0.50806	D	0.84	0.21119	L	-1.74	0.85173	D	-4.45	0.77717	D	0.707	0.80572	-0.1451	0.79039	T	0.509	0.81527	D	10	0.6498769	0.69541	D	0.196846	0.86503	D	0.443	0.74588	0.388	0.40951	0.817883718107	0.81616	0.9725668737270228	0.97245	0.555298206099	0.52229	0.665825009346	0.62241	T	0.506962	0.82492	D	0.0861848	0.62758	D	-0.113978	0.62294	T	0.98187917470932	0.74162	D	0.883312	0.60567	D	0.2881824	0.51823	0.250968	0.50698	0.2881824	0.51823	0.250968	0.50697	-15.247	0.96521	D	.	.	0.973	0.89808	P	.;.;.;.;.;.	.;.;.;.;.;.	4.647796	0.74053	26.1	0.9874692024541335	0.45587	0.88075	0.47847	D	AEFDBHCI	0.574998	0.57756	D	-0.046368544377228	0.39764	2.350313	0.00799731341758868	0.40086	2.38672	0.999998763134182	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	2.83	0.32150	1.613000	0.36512	7.263000	0.57966	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1598:0.0:0.6829:0.1573	5.756	0.17440	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2188	672.89	63	chr10	125003470	.	G	T	672.89	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-3.170e-01;DP=1506;ExcessHet=2.5830;FS=6.678;InbreedingCoeff=-0.2894;MLEAC=8;MLEAF=0.250;MQ=59.26;MQRankSum=-8.448e+00;QD=1.17;ReadPosRankSum=-2.280e-01;SOR=0.905	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,9:73:99:0|1:125003425_G_C:185,0,2660:125003425	9	0	7	5
chr10	125003491	125003491	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_022802:exon2:c.T1680A:p.S560R,	.	.	420	1097	5	0	0	5	0.00227376	0.0001	0.09	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.813	P	0.409	B	0.120	N	1.000	D	.	.	-1.85	D	-0.191	T	0.489	T	0.446	3.912	19.90	0.586	0.264	1.788	9.132	0.477	0.214387794182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.016	0.60972	D	0.813	0.45457	P	0.409	0.44752	B	0.120212	0.19044	N	0.623124	1	0.81001	D	.	.	.	-1.85	0.84267	D	-1.69	0.40274	N	0.82	0.81559	-0.1913	0.77895	T	0.489	0.80565	T	9	0.75226426	0.75723	D	0.214388	0.87455	D	0.477	0.76881	0.427	0.47350	0.792541464948	0.79061	0.6253988332573677	0.62472	0.162367538727	0.18315	0.613913297653	0.54869	T	.	.	.	0.0835129	0.62450	D	-0.117816	0.61982	T	0.946590483188629	0.62503	D	0.790821	0.43180	T	.	.	.	.	.	.	.	.	-6.658	0.51493	T	.	.	0.947	0.86575	P	.	.	3.457030	0.48168	22.6	0.99726346640516361	0.82406	0.87670	0.47287	D	AEFDBHCI	0.334004	0.43291	N	0.43266425900824	0.63228	4.552434	0.267884646439281	0.53674	3.535174	0.999994960590163	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	0.586	0.16618	2.212000	0.42474	2.756000	0.34570	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.905000	0.44082	0.7154:0.0:0.2846:0.0	9.132	0.36011	922	0.19044	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1	62.03	60	chr10	125003491	.	A	T	62.03	.	AC=1;AF=0.100;AN=10;BaseQRankSum=3.46;DP=1343;ExcessHet=0.0000;FS=7.786;InbreedingCoeff=-0.2727;MLEAC=3;MLEAF=0.300;MQ=59.23;MQRankSum=-7.442e+00;QD=0.91;ReadPosRankSum=-1.947e+00;SOR=2.798	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:65,0:65:0:.:.:0,0,1572	4	0	1	16
chr10	125003493	125003493	-	TCACAAATTCTGTCCAA	splicing	CTBP2	NM_001290214:exon4:c.59-1->TTGGACAGAATTTGTGA;NM_001321013:exon3:c.59-1->TTGGACAGAATTTGTGA;NM_001329:exon4:c.59-1->TTGGACAGAATTTGTGA;NM_001290215:exon4:c.59-1->TTGGACAGAATTTGTGA;NM_001321012:exon4:c.59-1->TTGGACAGAATTTGTGA;NM_001321014:exon4:c.59-1->TTGGACAGAATTTGTGA;NM_001083914:exon4:c.59-1->TTGGACAGAATTTGTGA;NM_001363508:exon2:c.263-1->TTGGACAGAATTTGTGA;NM_022802:exon2:c.1679-1->TTGGACAGAATTTGTGA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	53.85	53	chr10	125003493	.	C	CTCACAAATTCTGTCCAA	53.85	.	AC=1;AF=0.033;AN=30;BaseQRankSum=1.96;DP=1292;ExcessHet=0.0000;FS=7.786;InbreedingCoeff=-0.1189;MLEAC=1;MLEAF=0.033;MQ=59.24;MQRankSum=-7.442e+00;QD=0.79;ReadPosRankSum=-2.756e+00;SOR=2.798	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:63,0:63:99:.:.:0,120,1800	14	0	1	6
chr10	125026996	125026996	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_022802:exon1:c.G764A:p.R255H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.957	D	0.312	B	0.491	N	1.000	N	.	.	-1.7	D	-0.635	T	0.336	T	0.219	1.344	10.42	1.45	0.204	0.040	2.657	0.224	0.139274203028	7.7e-05	0.000199681	9.146e-05	0	0	0.0001	0	0.0001	0	0.0002	0.00011	17	154602	rs143281706	9.099e-05	9.098e-05	8.85e-05	9.352e-05	0.0005	7.824e-05	7.306e-05	0.0001	0.0001	0	0	0	0	0	0.0005	9.083e-05	0.0002	0.0002	8.534e-05	8.53e-05	6.422e-05	0.0001	0.0002	4.953e-05	3.959e-05	6.804e-05	5.088e-05	4.809e-05	0	6.533e-05	0	0	0	0	0.0001	0	0.0002	0.001	0.78490	D	0.139	0.33666	T	0.957	0.54824	D	0.312	0.41466	B	0.490760	0.12060	N	0.682165	1	0.08975	N	.	.	.	-1.7	0.83072	D	-0.33	0.12472	N	0.2	0.22098	-0.6352	0.63350	T	0.336	0.70273	T	9	0.07831073	0.12465	T	0.139274	0.82175	D	0.224	0.52174	.	.	0.41887692313	0.41506	0.1500740344583782	0.14929	0.198761415624	0.22255	0.374867796898	0.21527	T	.	.	.	-0.271836	0.11554	T	-0.322274	0.42324	T	0.130934312939644	0.15468	T	0.693131	0.30283	T	.	.	.	.	.	.	.	.	-4.773	0.34275	T	.	.	0.077	0.06341	B	.	.	1.136517	0.15237	11.69	0.99804158234288942	0.88906	0.07280	0.13303	N	AEFDBCI	0.075572	0.15179	N	-0.440224513051652	0.24073	1.297261	-0.612254684180121	0.19178	1.027813	0.999952910175145	0.48110	0.497415	0.19182	0	0.59043	0.45803	0	0.223423	0.04632	3	0.714379	0.83352	0	.	.	4.54	1.45	0.21708	0.077000	0.14593	-1.612000	0.05062	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.083000	0.17415	0.1522:0.5295:0.148:0.1703	2.657	0.04709	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1832.98	42	chr10	125026996	.	C	T	1832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=1107;ExcessHet=0.0000;FS=0.581;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.38;ReadPosRankSum=0.367;SOR=0.629	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	20	0	1	0
chr10	125027401	125027401	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_022802:exon1:c.T359A:p.V120E,	.	.	434	1072	15	1	0	17	0.00786673	.	.	2809740	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.095	B	0.032	B	0.000	N	1.000	N	.	.	-3.25	D	-0.275	T	0.619	D	0.132	0.695	7.713	-8.69	-1.799	-0.314	9.598	0.212	0.0590307634611	0.0012	0.00179712	0.0027	0.0002	0.0021	0.0001	0	0.0021	0.0055	0.0093	0.0003622	56	154602	rs145765785	0.0017	0.0017	0.0014	0.0020	0.0206	0.0016	0.0016	0.0176	0.0165	0.0004	0.0022	0.0186	0	0	0.0206	0.0007	0.0031	0.0086	0.0015	0.0015	0.0014	0.0016	0.0085	0.0014	0.0013	0.0064	0.0057	0.0001	0	0.0014	0.0205	0	0	0.0102	0.0013	0.0028	0.0085	0.089	0.32141	T	0.281	0.21612	T	0.095	0.25437	B	0.032	0.22131	B	0.000008	0.00162	N	31.999700	1	0.08975	N	.	.	.	-3.25	0.93532	D	-0.21	0.10308	N	0.192	0.21056	-0.2750	0.75676	T	0.619	0.86572	D	9	0.00432235	0.00087	T	0.059031	0.67525	D	0.212	0.50341	.	.	0.45964064346	0.45589	0.0817645669245146	0.08111	0.176838138355	0.19898	0.313767671585	0.12477	T	.	.	.	-0.398383	0.02373	T	-0.33877	0.40484	T	0.0334856584668159	0.02551	T	0.30297	0.05734	T	.	.	.	.	.	.	.	.	-3.455	0.15807	T	.	.	0.100	0.16973	B	.	.	-1.128471	0.00608	0.016	0.6511562735489177	0.07682	0.13039	0.17628	N	AEFDBCI	0.174456	0.30158	N	-1.36632051535727	0.02959	0.1314718	-1.53629873574645	0.02072	0.09473427	0.999999986112731	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.633826	0.45126	0	0.491896	0.07777	0	.	.	4.54	-8.69	0.00741	0.108000	0.15232	-1.646000	0.04994	-0.533000	0.04955	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.1958:0.1919:0.6123:0.0	9.598	0.38752	918	0.19598	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	4432.68	42	chr10	125027401	.	A	T	4432.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.25;DP=1234;ExcessHet=0.3300;FS=3.262;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=9.98;ReadPosRankSum=-3.200e-01;SOR=0.664	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	18	0	3	0
chr10	125027456	125027456	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_022802:exon1:c.C304G:p.R102G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.712	P	0.324	B	0.097	N	1.000	D	.	.	-3.56	D	0.617	D	0.770	D	0.186	1.872	12.22	3.77	1.298	4.681	12.990	0.288	0.116373301519	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1006155042	2.052e-06	2.052e-06	0	4.125e-06	2.319e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	8.993e-07	0	2.319e-05	6.572e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.058	0.46182	T	0.712	0.42110	P	0.324	0.41853	B	0.096695	0.20063	N	0.467443	0.999998	0.58761	D	.	.	.	-3.56	0.94869	D	-1.28	0.32185	N	0.597	0.61596	0.617	0.92124	D	0.770	0.92164	D	9	0.5918185	0.66423	D	0.116373	0.79584	D	0.288	0.60691	0.388	0.40951	0.636924601929	0.63393	0.20390693612027488	0.20307	0.17519669607	0.19726	0.35252571106	0.18293	T	.	.	.	0.0698074	0.60826	D	-0.137503	0.60333	T	0.987030446529388	0.77612	D	0.513749	0.16498	T	.	.	.	.	.	.	.	.	-3.304	0.13789	T	.	.	0.081	0.08081	B	.	.	2.827871	0.37270	20.5	0.98879162432663714	0.47788	0.86418	0.45694	D	AEFBCI	0.584333	0.58320	D	0.0530078823376662	0.44281	2.705006	0.02358062451027	0.40811	2.441683	0.999999431778422	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.37387	0.06007	3	0.491896	0.07777	0	.	.	4.7	3.77	0.42499	5.051000	0.64074	7.399000	0.58563	0.676000	0.76740	0.991000	0.37257	0.999000	0.35428	0.291000	0.24285	0.0:0.0:0.7069:0.2931	12.990	0.58015	919	0.19497	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	903.98	42	chr10	125027456	.	G	C	903.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.662;DP=921;ExcessHet=0.0000;FS=1.817;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=-5.890e-01;SOR=1.005	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	20	0	1	0
chr10	125039033	125039033	T	A	exonic	CTBP2	.	stopgain	CTBP2:NM_001321013:exon2:c.A22T:p.K8X	.	.	432	1023	67	0	0	67	0.0317085	.	.	1330655	not_specified|Pulmonary_artery_atresia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	6.130	37	5.28	2.217	5.606	13.948	.	.	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001537	4	26028	rs76555439	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.903	0.90363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47795	0.93627	D	0.448766	0.93547	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	9.829600	0.99355	43	0.99586803091769216	0.73336	0.87743	0.47386	D	AEFGBHCI	0.077324	0.15576	N	0.854919915911592	0.89387	9.950527	0.733718632913773	0.84935	8.434	0.999999999999905	0.74766	0.645754	0.44609	0	0.627178	0.54094	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.743000	0.68032	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2857	1731.31	135	chr10	125039033	.	T	A	1731.31	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.532e+00;DP=2371;ExcessHet=9.6308;FS=3.604;InbreedingCoeff=-0.4064;MLEAC=12;MLEAF=0.286;MQ=58.76;MQRankSum=-1.194e+01;QD=0.98;ReadPosRankSum=0.141;SOR=0.366	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,10:140:29:0|1:125039033_T_A:29,0,5355:125039033	9	0	12	0
chr10	125039035	125039035	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001321013:exon2:c.A20G:p.H7R	.	.	434	1022	66	0	0	66	0.0312796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.0	B	0.001	B	.	.	1.000	N	1.61	L	-1.53	D	-0.716	T	0.384	T	0.78	2.124	13.06	5.28	2.217	5.606	13.948	0.314	0.0169483827955	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001921	5	26028	rs78849795	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.15509	T	0.911	0.02952	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.976171	0.25390	N	1.155	0.29575	L	-1.53	0.81559	D	-0.28	0.11547	N	0.556	0.58117	-0.7162	0.59649	T	0.384	0.73988	T	9	0.2395181	0.41094	T	0.016948	0.38442	T	0.314	0.63588	0.302	0.27003	0.989459454501	0.98934	.	.	.	.	.	.	.	0.157543	0.50018	T	0.164577	0.70624	D	-0.00137324	0.70247	D	0.378074373079758	0.28108	T	0.886111	0.61235	D	0.15569115	0.35175	0.15271002	0.35916	0.15569115	0.35174	0.15271002	0.35915	-2.736	0.07610	T	.	.	0.160	0.48978	B	.;.;.;.	.;.;.;.	3.581586	0.50496	23.0	0.96844956273467708	0.31320	0.86671	0.46001	D	AEFGBHCI	0.757168	0.69621	D	-0.0152146198236119	0.41167	2.457583	0.165997750048251	0.47996	3.021633	0.999999999999905	0.74766	0.645754	0.44609	0	0.60822	0.50512	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.749000	0.68113	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2857	1731.31	135	chr10	125039035	.	T	C	1731.31	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.484e+00;DP=2344;ExcessHet=9.6308;FS=3.604;InbreedingCoeff=-0.4064;MLEAC=12;MLEAF=0.286;MQ=58.74;MQRankSum=-1.194e+01;QD=0.98;ReadPosRankSum=0.412;SOR=0.366	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,10:140:29:0|1:125039033_T_A:29,0,5355:125039033	9	0	12	0
chr10	125576858	125576858	G	A	exonic	TEX36	.	nonsynonymous SNV	TEX36:NM_001318133:exon4:c.C281T:p.T94M,	.	.	425	1074	23	0	0	23	0.0105942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.98	D	0.541	P	.	.	1.000	N	.	.	0.9	T	-1.034	T	0.070	T	0.034	0.314	5.700	-0.091	-0.032	-0.109	4.337	0.069	.	.	0.00339457	0.0058	0	0.0053	0	0	0.0086	0	0.0051	0.0013842	214	154602	rs77774010	0.0098	0.0093	0.0100	0.0097	0.0148	0.0097	0.0097	0.0122	0.0113	0.0012	0.0054	0.0053	5.597e-05	0.0100	0.0148	0.0111	0.0094	0.0040	0.0071	0.0071	0.0071	0.0072	0.0111	0.0068	0.0066	0.0104	0.0102	0.0018	0.0033	0.0056	0.0055	0	0.0086	0.0102	0.0111	0.0137	0.0050	0.064	0.36509	T	0.068	0.44106	T	0.98	0.59353	D	0.541	0.48869	P	.	.	.	.	1	0.08975	N	.	.	.	0.9	0.45248	T	-0.83	0.22727	N	0.068	0.04072	-1.0342	0.19109	T	0.070	0.28740	T	8	0.005066544	0.00109	T	.	.	.	0.069	0.20116	.	.	0.115124310173	0.11017	.	.	.	.	.	.	.	0.015888	0.13236	T	-0.71423	0.00030	T	-0.787688	0.02229	T	0.00483143693266006	0.00052	T	0.405359	0.10397	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.14751	B	.	.	0.545452	0.09141	5.923	0.90987877252136895	0.20237	0.00587	0.02638	N	AEFBI	0.025843	0.01838	N	-0.519285017956033	0.21456	1.138853	-0.78107368167306	0.14959	0.7843592	3.26355241941716E-4	0.06540	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.07	-0.0915	0.12996	-0.104000	0.10893	-0.314000	0.10017	-0.830000	0.02882	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4177:0.0:0.5823:0.0	4.337	0.10527	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1700.98	40	chr10	125576858	.	G	A	1700.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.23;DP=907;ExcessHet=0.0000;FS=5.456;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.69;ReadPosRankSum=-8.490e-01;SOR=0.378	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1575	20	0	1	0
chr10	125807469	125807469	T	A	exonic	UROS	.	nonsynonymous SNV	UROS:NM_000375:exon6:c.A338T:p.D113V	Porphyria, congenital erythropoietic, Autosomal recessive	.	0	1488	34	0	0	34	0.0112957	.	.	321166	not_provided|Cutaneous_porphyria|UROS-related_disorder	MedGen:C3661900|MONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700,Orphanet:79277|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.31	T	0.0	B	0.001	B	0.767	N	1.000	N	0.35	N	-3.07	D	-0.636	T	0.386	T	0.53	0.655	7.515	2.19	0.787	0.219	0.848	0.398	.	0.0052	0.00778754	0.0092	0.0008	0.0012	0	0.0048	0.0055	0.0111	0.0418	0.0086739	1341	154602	rs117926090	0.0082	0.0082	0.0071	0.0093	0.0416	0.0080	0.0080	0.0405	0.0400	0.0007	0.0011	0.0010	0.0001	0.0044	0.0057	0.0069	0.0055	0.0416	0.0048	0.0048	0.0045	0.0052	0.0422	0.0045	0.0044	0.0375	0.0357	0.0010	0.0208	0.0010	0.0014	0	0.0039	0.0068	0.0059	0.0024	0.0422	0.363	0.11807	T	0.37	0.17372	T	0.0	0.02946	B	0.001	0.04355	B	0.767036	0.09576	N	0.904543	0.999851	0.20048	N	-0.32	0.03561	N	-3.07	0.92508	D	-1.35	0.34795	N	0.138	0.18239	-0.6361	0.63312	T	0.386	0.74172	T	10	0.003699392	0.00068	T	.	.	.	0.398	0.71242	.	.	0.617760060724	0.61466	0.4644666410874292	0.46365	0.125476709749	0.14146	0.248602688313	0.03622	T	0.558402	0.85174	D	-0.287548	0.09885	T	-0.157251	0.58598	T	0.00836944697873408	0.00101	T	0.687731	0.30434	T	0.21969995	0.44509	0.08842274	0.20615	0.17819162	0.38825	0.0805548	0.18231	-5.566	0.42481	T	0.15677322283356787	0.18885	0.084	0.19357	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.762237	0.22416	15.61	0.87410245568225997	0.17207	0.03195	0.08186	N	AEFBI	0.040720	0.06096	N	-0.733036760622332	0.15097	0.7579257	-0.643917497332371	0.18371	0.9810512	0.791663498764809	0.24026	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	4.62	2.19	0.26890	0.158000	0.16239	1.207000	0.24879	0.665000	0.62972	0.000000	0.06391	0.023000	0.20922	0.992000	0.67800	0.1805:0.1243:0.2144:0.4808	0.848	0.01092	892	0.26670	Tetrapyrrole biosynthesis, uroporphyrinogen III synthase|Tetrapyrrole biosynthesis, uroporphyrinogen III synthase;Tetrapyrrole biosynthesis, uroporphyrinogen III synthase|Tetrapyrrole biosynthesis, uroporphyrinogen III synthase;Tetrapyrrole biosynthesis, uroporphyrinogen III synthase|Tetrapyrrole biosynthesis, uroporphyrinogen III synthase;.;.;Tetrapyrrole biosynthesis, uroporphyrinogen III synthase|Tetrapyrrole biosynthesis, uroporphyrinogen III synthase;Tetrapyrrole biosynthesis, uroporphyrinogen III synthase|Tetrapyrrole biosynthesis, uroporphyrinogen III synthase;Tetrapyrrole biosynthesis, uroporphyrinogen III synthase|Tetrapyrrole biosynthesis, uroporphyrinogen III synthase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1836.98	34	chr10	125807469	.	T	A	1836.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.218e+00;DP=881;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.41;ReadPosRankSum=0.742;SOR=0.655	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1249	20	0	1	0
chr10	125854184	125854184	T	G	exonic	DHX32	.	nonsynonymous SNV	DHX32:NM_018180:exon4:c.A869C:p.E290A,	.	.	.	.	.	.	.	.	.	.	.	1978151	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.003	B	0.002	B	0.051	N	1.000	D	1.345	L	4.06	T	-1.011	T	0.013	T	0.43	1.214	9.927	4.77	1.057	4.911	11.113	0.111	0.00715753076531	.	0.000399361	8.38e-05	0	0	0.0005	0	9.151e-05	0	0	8.41e-05	13	154602	rs34050865	7.774e-05	7.73e-05	6.976e-05	8.581e-05	0.0002	6.57e-05	6.171e-05	0.0001	8.796e-05	0	4.638e-05	0.0018	0.0002	0	0.0002	3.875e-05	0.0002	0	0.0001	0.0001	0.0001	0.0001	0.0014	7.576e-05	6.281e-05	0.0006	0.0004	0	0	6.544e-05	0.0017	0.0014	0	0	4.411e-05	0.0005	0	0.217	0.19157	T	0.506	0.10967	T	0.003	0.11197	B	0.002	0.06944	B	0.051013	0.23020	N	0.504572	0.960994	0.81001	D	2.06	0.56677	M	4.06	0.03063	T	-1.34	0.33401	N	0.345	0.38643	-1.0110	0.26604	T	0.013	0.05129	T	10	0.019267142	0.00428	T	0.007158	0.18979	T	0.111	0.31313	.	.	0.383256108077	0.37933	0.34547312908998	0.34461	0.238005991446	0.26348	0.325648158789	0.14276	T	0.035308	0.23667	T	-0.327045	0.06338	T	-0.414067	0.31758	T	0.0542034837541044	0.06223	T	0.665033	0.27384	T	0.08119214	0.18643	0.049551796	0.07596	0.08119214	0.18642	0.049551796	0.07596	-6.742	0.52126	T	.	.	0.119	0.24498	B	.	.	2.167283	0.27613	17.52	0.96106056324999722	0.28730	0.98744	0.86296	D	AEFGBI	0.480970	0.52246	N	-0.200232042877847	0.33125	1.875784	-0.0787028595566196	0.36271	2.108777	0.998553983708972	0.37186	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.9	4.77	0.60425	4.932000	0.63178	6.072000	0.53266	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.595000	0.31264	0.0:0.072:0.0:0.928	11.113	0.47465	926	0.17793	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	620.98	33	chr10	125854184	.	T	G	620.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=758;ExcessHet=0.0000;FS=2.313;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.87;ReadPosRankSum=-8.150e-01;SOR=1.155	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1167	20	0	1	0
chr10	125859758	125859758	C	T	exonic	DHX32	.	nonsynonymous SNV	DHX32:NM_018180:exon3:c.G694A:p.V232M,	.	.	430	1090	2	0	0	2	0.00091659	.	.	1462179	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.965	D	0.727	P	0.065	N	1.000	N	2.8	M	2.14	T	-0.897	T	0.126	T	0.324	1.861	12.18	3.12	0.293	1.347	16.121	0.184	0.00864235651168	7.7e-05	.	0.0003	0	8.637e-05	0.0001	0	0.0001	0	0.0015	0.0002199	34	154602	rs368692405	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0002	0.0011	0.0010	5.974e-05	4.472e-05	0.0008	0.0003	0	0.0017	7.914e-05	0.0004	0.0013	0.0001	0.0001	6.427e-05	0.0002	0.0006	7.583e-05	6.287e-05	0.0002	9.007e-05	2.416e-05	0	6.545e-05	0.0006	0	0	0	0.0002	0	0.0006	0.039	0.42487	D	0.08	0.41913	T	0.93	0.51791	P	0.191	0.36391	B	0.065132	0.21903	N	0.478949	0.752039	0.29628	N	2.455	0.71248	M	2.14	0.19450	T	-1.21	0.30762	N	0.258	0.29197	-0.8975	0.48244	T	0.126	0.43112	T	10	0.04130611	0.02775	T	0.008642	0.22829	T	0.184	0.45763	.	.	0.446510307777	0.44274	0.36675737830681443	0.36589	0.281262430898	0.30601	0.344441562891	0.17100	T	0.141621	0.47677	T	-0.449549	0.01136	T	-0.464074	0.26158	T	0.0606883793537044	0.07277	T	0.846115	0.52582	T	0.05722129	0.11359	0.07216455	0.15538	0.05722129	0.11359	0.07216455	0.15538	-9.133	0.68549	D	.	.	0.117	0.23918	B	.	.	3.484000	0.48668	22.7	0.91467083949721328	0.20738	0.52409	0.29125	D	AEFGBI	0.202316	0.32891	N	-0.49159725905741	0.22356	1.193124	-0.565432884083291	0.20396	1.098729	0.999005654070081	0.38186	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.99	3.12	0.34986	1.079000	0.30378	3.938000	0.40583	-0.889000	0.02397	0.466000	0.26691	0.995000	0.32472	0.871000	0.41478	0.2119:0.7881:0.0:0.0	16.121	0.81166	952	0.10565	Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1354.98	36	chr10	125859758	.	C	T	1354.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.69;DP=840;ExcessHet=0.0000;FS=0.685;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.20;ReadPosRankSum=-1.833e+00;SOR=0.577	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,120,1800	20	0	1	0
chr10	126101084	126101084	G	A	exonic	ADAM12	.	nonsynonymous SNV	ADAM12:NM_001288973:exon9:c.C899T:p.A300V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	1.765	L	-0.37	T	-0.120	T	0.452	T	0.863	4.394	23.3	5.32	2.767	7.692	19.192	0.622	0.0359029064672	.	.	8.249e-06	0	0	0	0	0	0	6.069e-05	6.5e-06	1	154602	rs770769845	3.421e-06	3.42e-06	4.084e-06	2.751e-06	2.32e-05	1e-06	7.3e-07	3.85e-06	1.44e-06	0	0	0	0	1.872e-05	0	1.799e-06	0	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.155	0.60227	M	-0.37	0.68892	T	-3.69	0.72120	D	0.898	0.89800	-0.1205	0.79622	T	0.452	0.78573	T	10	0.97593105	0.97361	D	0.035903	0.56650	D	0.622	0.85354	0.905	0.97985	0.826357589817	0.82471	0.8900877691373105	0.88978	0.837554924303	0.67874	0.693823516369	0.66255	T	0.554296	0.84964	D	0.311229	0.83836	D	0.209283	0.83626	D	0.994117975234985	0.85224	D	0.916908	0.79272	D	0.80140114	0.83995	0.8413401	0.90927	0.80140114	0.83997	0.8413401	0.90927	-13.31	0.90600	D	.	.	0.460	0.62689	A	.;.	.;.	4.738657	0.76397	26.5	0.99905145798201966	0.97576	0.98945	0.88990	D	AEFBI	0.924387	0.90233	D	0.572348320640341	0.71452	5.653165	0.480903805059984	0.66724	4.989711	0.999999999999996	0.74766	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.32	5.32	0.75377	8.021000	0.89136	11.717000	0.94751	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.186000	0.21481	0.0:0.0:1.0:0.0	19.192	0.93658	845	0.36510	Peptidase M12B, ADAM/reprolysin|Peptidase M12B, ADAM/reprolysin|Reprolysin domain, adamalysin-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1490.98	34	chr10	126101084	.	G	A	1490.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.88;DP=868;ExcessHet=0.0000;FS=4.003;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.07;ReadPosRankSum=-1.170e+00;SOR=0.365	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr10	126118141	126118141	T	C	exonic	ADAM12	.	nonsynonymous SNV	ADAM12:NM_001288973:exon6:c.A500G:p.K167R	.	.	423	1090	9	0	0	9	0.00411147	.	.	712225	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.213	B	0.108	B	0.001	N	1.000	N	0	N	4.85	T	-1.036	T	0.021	T	0.162	1.979	12.57	5.03	2.118	2.770	10.052	0.102	.	0.0040	0.00259585	0.0011	0.0114	0.0006	0	0	1.498e-05	0	6.058e-05	0.0009702	150	154602	rs112264074	0.0004	0.0004	0.0004	0.0003	0.0123	0.0004	0.0004	0.0113	0.0109	0.0123	0.0007	0	0	0	0.0009	4.137e-05	0.0012	0.0001	0.0036	0.0036	0.0037	0.0035	0.0124	0.0033	0.0032	0.0115	0.0112	0.0124	0	0.0013	0	0	0	0	0.0001	0.0009	0.0002	0.02	0.78490	D	0.046	0.53072	D	0.078	0.30041	B	0.035	0.31289	B	0.001116	0.40219	N	0.202357	1	0.08975	N	1.61	0.41143	L	4.85	0.20255	T	-1.02	0.26843	N	0.26	0.29429	-1.0361	0.18513	T	0.021	0.08686	T	10	0.003543526	0.00064	T	.	.	.	0.102	0.29158	.	.	0.40032279838	0.39643	0.4729381683582225	0.47212	0.186440988657	0.20951	0.256199717522	0.04448	T	0.215579	0.57750	T	-0.537096	0.00348	T	-0.53389	0.18899	T	0.0319911370483661	0.02305	T	0.705929	0.33194	T	0.068910375	0.15052	0.07552464	0.16636	0.068910375	0.15052	0.07552464	0.16636	-4.296	0.28121	T	.	.	0.065	0.02370	B	.;.;.	.;.;.	2.031393	0.25816	16.90	0.98962855959820717	0.49364	0.17807	0.19996	N	AEFGBI	0.198662	0.32551	N	-0.600540033992631	0.18929	0.9866742	-0.558416835079851	0.20582	1.10958	0.999964642936764	0.48965	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.03	5.03	0.67015	2.967000	0.48908	5.007000	0.46640	0.665000	0.62972	0.131000	0.23362	0.943000	0.28828	0.002000	0.04165	0.0:0.0:0.1686:0.8314	10.052	0.41394	934	0.15400	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2303.11	34	chr10	126118141	.	T	C	2303.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.200e-01;DP=868;ExcessHet=0.1072;FS=2.445;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.95;MQRankSum=0.00;QD=11.63;ReadPosRankSum=-3.880e-01;SOR=0.554	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1107	19	0	2	0
chr10	126464782	126464782	A	G	exonic	C10orf90	.	nonsynonymous SNV	C10orf90:NM_001004298:exon4:c.T1448C:p.F483S	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.215	B	0.069	B	0.995	N	0.993	D	0.69	N	2.23	T	-1.083	T	0.025	T	0.149	1.172	9.768	4.44	1.865	1.304	11.200	0.071	0.00801001120175	7.7e-05	0.000399361	0.0002	0	0.0003	0	0	0.0003	0.0022	0.0002	0.000194	30	154602	rs144737013	0.0001	0.0001	9.937e-05	0.0001	0.0028	0.0001	0.0001	0.0017	0.0014	2.987e-05	0.0004	0.0017	0	0	0.0028	4.856e-05	0.0003	0.0004	0.0001	0.0001	0.0001	0.0002	0.0004	9.742e-05	8.256e-05	8.87e-05	5.282e-05	2.408e-05	0	0.0003	0.0026	0	0	0	8.822e-05	0	0.0004	0.002	0.72154	D	0.006	0.70582	D	0.215	0.30128	B	0.069	0.27757	B	0.994674	0.08007	N	0.996520	0.992938	0.41786	D	1.39	0.34934	L	2.23	0.18083	T	-0.54	0.19509	N	0.085	0.07535	-1.0829	0.06795	T	0.025	0.10598	T	10	0.010611415	0.00235	T	0.00801	0.21239	T	0.071	0.20720	.	.	0.218112801441	0.21410	0.1666848352514686	0.16588	0.176264106329	0.19841	.	.	.	0.004741	0.13319	T	-0.466777	0.00891	T	-0.586303	0.13988	T	0.0614712516585581	0.07398	T	0.639636	0.25265	T	0.2597068	0.49024	0.20430094	0.44548	0.2597068	0.49024	0.20430094	0.44547	-1.677	0.02170	T	.	.	0.131	0.31658	B	.;.;.	.;.;.	1.302348	0.17042	12.92	0.98646489420257966	0.44123	0.14130	0.18239	N	AEFGI	0.105714	0.21115	N	-0.573649428483817	0.19749	1.035988	-0.56380640612465	0.20439	1.101238	0.999881670905297	0.44867	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.44	4.44	0.53164	1.384000	0.34003	0.763000	0.21331	0.743000	0.86499	0.001000	0.13787	0.000000	0.08366	0.884000	0.42379	1.0:0.0:0.0:0.0	11.200	0.47967	620	0.66037	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2015.98	35	chr10	126464782	.	A	G	2015.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.337e+00;DP=819;ExcessHet=0.0000;FS=2.349;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.39;ReadPosRankSum=0.233;SOR=0.495	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1147	20	0	1	0
chr10	127175528	127175528	T	C	exonic	INSYN2A	.	nonsynonymous SNV	INSYN2A:NM_001039762:exon4:c.A868G:p.R290G,	.	.	.	.	.	.	.	.	.	.	.	3264126	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.34	T	0.011	B	0.015	B	0.000	D	0.997	N	1.155	L	0.93	T	-1.045	T	0.070	T	0.327	0.689	7.682	2.62	0.800	1.048	7.312	0.086	0.0148434837447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.27663	T	0.341	0.20877	T	0.011	0.15914	B	0.015	0.17295	B	0.000002	0.62929	D	0.099413	0.996998	0.43556	D	.	.	.	0.93	0.44065	T	-2.99	0.62151	D	0.164	0.21710	-1.0446	0.15942	T	0.070	0.28577	T	10	0.08517292	0.14352	T	0.014843	0.35215	T	0.086	0.25016	0.305	0.27485	0.043077524339	0.03247	0.3391599085085521	0.33828	0.17376452902	0.19561	0.377636134624	0.21920	T	0.154246	0.49544	T	-0.188292	0.22509	T	-0.508245	0.21497	T	0.292214602231979	0.24682	T	0.645335	0.26051	T	0.19936335	0.41873	0.15389203	0.36142	0.19936335	0.41873	0.15389203	0.36141	-3.169	0.12106	T	.	.	0.083	0.19114	B	.;.;.	.;.;.	1.034244	0.14145	10.72	0.94847019439997948	0.25643	0.62104	0.31681	D	AEFDBI	0.120113	0.23412	N	-0.731371782725505	0.15144	0.7606497	-0.708877332958123	0.16740	0.8869547	0.899174783968966	0.26044	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	5.08	2.62	0.30337	1.039000	0.29876	-0.403000	0.09398	0.665000	0.62972	0.812000	0.29879	0.000000	0.08366	0.016000	0.10718	0.0:0.077:0.1943:0.7287	7.312	0.25655	952	0.10565	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1412.98	33	chr10	127175528	.	T	C	1412.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=808;ExcessHet=0.0000;FS=0.767;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.72;ReadPosRankSum=-1.671e+00;SOR=0.810	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1452	20	0	1	0
chr10	127175644	127175644	G	A	exonic	INSYN2A	.	nonsynonymous SNV	INSYN2A:NM_001039762:exon4:c.C752T:p.T251M,	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.979	D	0.001	D	1.000	D	2.125	M	0.84	T	-0.535	T	0.266	T	0.54	2.576	14.57	4.02	2.530	2.909	12.552	0.153	0.104640038835	7.7e-05	0.000399361	0.0003	0.0001	8.792e-05	0.0001	0	0.0002	0	0.0016	0.0002781	43	154602	rs377391223	0.0002	0.0002	0.0001	0.0002	0.0017	0.0002	0.0002	0.0015	0.0014	8.962e-05	4.474e-05	0	2.519e-05	1.896e-05	0	9.083e-05	0.0002	0.0017	0.0002	0.0002	0.0002	0.0003	0.0023	0.0002	0.0001	0.0013	0.0010	0.0002	0	0	0	0.0002	0	0	0.0002	0.0005	0.0023	0.002	0.72154	D	0.005	0.74150	D	0.999	0.77913	D	0.903	0.64103	P	0.000508	0.43753	D	0.234553	1	0.81001	D	.	.	.	0.84	0.47477	T	-3.2	0.64710	D	0.635	0.67564	-0.5350	0.67353	T	0.266	0.63727	T	10	0.03774771	0.02148	T	0.10464	0.77932	D	0.153	0.40148	.	.	0.138757226776	0.13463	0.41978551448570983	0.41894	0.585234560638	0.54173	0.698648750782	0.66948	T	0.155055	0.49661	T	-0.345499	0.05016	T	-0.30444	0.44254	T	0.355480134487152	0.27233	T	0.889211	0.62120	D	0.15573731	0.35183	0.29407653	0.55437	0.15573731	0.35183	0.29407653	0.55436	-4.634	0.32596	T	.	.	0.176	0.55583	B	.;.;.	.;.;.	4.278665	0.65153	24.8	0.99861845715737918	0.94002	0.91548	0.53760	D	AEFDBI	0.249974	0.37011	N	0.445590630075882	0.63954	4.639401	0.332835672451195	0.57480	3.913791	0.999897112068674	0.45129	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.02	4.02	0.45968	3.050000	0.49568	11.463000	0.92833	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.081000	0.17303	0.0:0.0:0.8332:0.1668	12.552	0.55580	952	0.10565	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1377.98	33	chr10	127175644	.	G	A	1377.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.337e+00;DP=866;ExcessHet=0.0000;FS=2.463;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=1.00;SOR=0.794	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1452	20	0	1	0
chr10	127444196	127444196	C	T	exonic	DOCK1	.	nonsynonymous SNV	DOCK1:NM_001377560:exon42:c.C4475T:p.S1492L	.	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.994	D	0.921	D	0.000	D	1.000	D	1.78	L	3.83	T	-1.070	T	0.017	T	0.801	4.295	22.5	4.72	2.456	7.048	17.896	0.220	.	0.0056	0.00479233	0.0100	0.0021	0.0065	0	0.0130	0.0143	0.0035	0.0034	0.0065588	1014	154602	rs41314432	0.0074	0.0074	0.0076	0.0072	0.0081	0.0073	0.0072	0.0080	0.0079	0.0011	0.0046	0.0102	2.544e-05	0.0116	0.0042	0.0081	0.0061	0.0030	0.0056	0.0056	0.0056	0.0056	0.0075	0.0053	0.0052	0.0070	0.0068	0.0016	0	0.0056	0.0144	0	0.0103	0	0.0075	0.0071	0.0029	0.12	0.27904	T	0.016	0.60972	D	0.994	0.66517	D	0.921	0.65636	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.855	0.82945	M	3.83	0.03702	T	-1.47	0.35991	N	0.686	0.69213	-1.0701	0.09391	T	0.017	0.06855	T	10	0.007295072	0.00166	T	.	.	.	0.220	0.51569	.	.	0.808986398115	0.80719	0.42786952484670565	0.42703	0.521547162058	0.49923	0.644025623798	0.59136	T	0.299598	0.67212	T	-0.263683	0.12472	T	-0.145	0.59683	T	0.0380534300237087	0.03341	T	0.937406	0.76468	D	0.15551768	0.35145	0.1430018	0.34001	0.18044944	0.39166	0.1430018	0.34000	-6.055	0.46737	T	.	.	0.147	0.42302	B	.;.	.;.	3.994214	0.58813	24.0	0.99908814149739777	0.97875	0.98377	0.82158	D	AEFDBI	0.856697	0.77397	D	0.546863735955575	0.69891	5.421912	0.499922273781699	0.67986	5.158095	0.999999999460723	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.72	4.72	0.59248	6.927000	0.75657	7.538000	0.60033	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.480000	0.28565	0.0:1.0:0.0:0.0	17.896	0.88806	556	0.71678	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2125.98	33	chr10	127444196	.	C	T	2125.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.76;DP=1031;ExcessHet=0.0000;FS=4.177;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=-4.200e-01;SOR=0.904	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1353	20	0	1	0
chr10	127451369	127451369	C	T	exonic	DOCK1	.	nonsynonymous SNV	DOCK1:NM_001377560:exon44:c.C4748T:p.P1583L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.998	D	0.981	D	0.000	D	1.000	D	0.55	N	3.74	T	-1.048	T	0.028	T	0.417	4.889	28.1	5.18	2.418	6.157	15.634	0.278	0.0326204809584	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868636153	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.079	0.42261	T	0.998	0.73220	D	0.981	0.75168	D	0.000021	0.55875	D	0.119010	1	0.81001	D	2.19	0.61577	M	3.74	0.03951	T	-1.94	0.45042	N	0.516	0.54671	-1.0482	0.14903	T	0.028	0.11838	T	10	0.4116016	0.56262	T	0.03262	0.54394	D	0.278	0.59497	0.299	0.26522	0.797382488221	0.79550	0.12331531705617257	0.12257	0.800192881485	0.66204	0.739098191261	0.72839	T	0.183532	0.53590	T	-0.106267	0.35386	T	-0.390421	0.34501	T	0.956389844417572	0.64744	D	0.954405	0.82627	D	0.11426795	0.26979	0.10949241	0.26389	0.11426795	0.26979	0.10949241	0.26389	-6.862	0.53019	T	.	.	0.422	0.76551	A	.;.	.;.	4.819354	0.78483	26.9	0.99907318879861839	0.97801	0.97310	0.73948	D	AEFBI	0.640577	0.61822	D	0.572566799513457	0.71465	5.655188	0.598037662735179	0.74797	6.198924	0.999999938103026	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.18	5.18	0.71140	6.558000	0.73838	7.480000	0.59248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	15.634	0.76685	584	0.69381	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2221.98	57	chr10	127451369	.	C	T	2221.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.300e-02;DP=1204;ExcessHet=0.0000;FS=0.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.31;ReadPosRankSum=0.144;SOR=0.612	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1265	20	0	1	0
chr10	127737677	127737677	A	T	exonic	FOXI2	.	nonsynonymous SNV	FOXI2:NM_207426:exon1:c.A404T:p.N135I,	.	.	1	1503	18	0	0	18	0.00595238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.999	D	0.981	D	0.000	D	1.000	D	2.67	M	-3.75	D	0.927	D	0.907	D	0.514	3.926	19.98	1.98	0.603	4.800	11.449	0.730	0.396174944489	.	.	0.0008	0	0	0	0	7.91e-05	0	0.0035	0.0002587	40	154602	rs754235951	0.0002	0.0002	0.0001	0.0003	0.0026	0.0002	0.0002	0.0023	0.0022	3.025e-05	2.364e-05	0	0	0	0.0026	3.8e-05	0.0004	0.0025	9.857e-05	9.85e-05	5.139e-05	0.0001	0.0014	6.007e-05	4.88e-05	0.0007	0.0005	0	0	0	0	0	0	0	0.0001	0	0.0014	0.0	0.91255	D	0.002	0.79402	D	0.999	0.77913	D	0.981	0.75168	D	0.000003	0.62929	D	0.057532	0.999943	0.51968	D	2.195	0.61839	M	-3.75	0.95528	D	-7.81	0.95950	D	0.719	0.72120	0.927	0.96059	D	0.907	0.96902	D	10	0.18564528	0.33993	T	0.396175	0.93297	D	0.730	0.90545	0.525	0.62967	0.693484647507	0.69084	0.6979705874390043	0.69738	1.74758098799	0.90959	0.539196252823	0.44332	T	0.786532	0.94413	D	-0.123749	0.32511	T	0.0422031	0.73071	D	0.219594404101372	0.21444	T	0.933407	0.75038	D	0.9106991	0.92360	0.84817845	0.91382	0.9106991	0.92361	0.84817845	0.91383	-10.346	0.75957	D	.	.	0.624	0.69877	P	.	.	4.485907	0.70031	25.5	0.99201932497641809	0.55321	0.80378	0.40031	D	AEFDBCIJ	0.607264	0.59729	D	0.471953758831028	0.65458	4.825181	0.362298414807579	0.59251	4.101482	0.997197198505474	0.35363	0.59774	0.34471	0	0.59043	0.45803	0	0.666236	0.60216	0	0.63947	0.58350	0	.	.	4.67	1.98	0.25351	4.009000	0.56822	2.930000	0.35611	-0.054000	0.16847	1.000000	0.71638	1.000000	0.68203	0.842000	0.39752	0.7023:0.2977:0.0:0.0	11.449	0.49383	783	0.47268	Fork head domain|Fork head domain|Fork head domain|Fork head domain|Fork head domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1843.98	33	chr10	127737677	.	A	T	1843.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.009e+00;DP=860;ExcessHet=0.0000;FS=4.205;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.99;ReadPosRankSum=0.549;SOR=0.432	GT:AD:DP:GQ:PL	0/1:68,74:142:99:1858,0,1759	20	0	1	0
chr10	127738642	127738642	G	A	exonic	FOXI2	.	nonsynonymous SNV	FOXI2:NM_207426:exon2:c.G634A:p.V212M,	.	.	401	1117	4	0	0	4	0.00178731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.132	B	0.019	B	0.517	N	1.000	N	0	N	-3.16	D	-0.401	T	0.512	D	0.108	0.965	8.939	0.894	0.379	0.977	7.035	0.173	0.103389910682	.	0.00139776	0.0012	0	0.0001	0	0	2.629e-05	0.0020	0.0071	0.0006533	101	154602	rs570152896	0.0003	0.0003	0.0002	0.0005	0.0049	0.0003	0.0003	0.0045	0.0043	3.015e-05	0	0	0	0	0.0012	4.252e-05	0.0003	0.0049	0.0002	0.0002	0.0002	0.0002	0.0048	0.0001	0.0001	0.0033	0.0028	0	0	0	0	0.0004	0	0.0034	2.94e-05	0.0005	0.0048	0.165	0.23271	T	0.128	0.34959	T	0.132	0.27209	B	0.019	0.18783	B	0.517207	0.11781	N	0.779391	1	0.08975	N	0	0.06538	N	-3.16	0.92996	D	0.28	0.04233	N	0.059	0.03069	-0.4014	0.71982	T	0.512	0.81681	D	10	0.0044291317	0.00091	T	0.10339	0.77739	D	0.173	0.43840	0.113	0.02240	0.517432700143	0.51384	0.329444498778826	0.32857	0.589772006947	0.54461	0.507018983364	0.39805	T	0.018795	0.15087	T	-0.427681	0.01531	T	-0.38602	0.35017	T	0.00771356120368294	0.00090	T	0.19768	0.02201	T	0.03831398	0.05080	0.06358977	0.12620	0.03831398	0.05079	0.06358977	0.12619	-6.282	0.48579	T	.	.	0.114	0.22825	B	.	.	1.119891	0.15057	11.55	0.91113343137166891	0.20366	0.03457	0.08605	N	AEFDBCI	0.055854	0.10278	N	-1.11702084955328	0.06339	0.2915832	-1.12790449729831	0.07171	0.3478104	0.790632259045621	0.24009	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.15	0.894	0.18375	-0.100000	0.10959	0.837000	0.22005	-0.936000	0.02120	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3364:0.5513:0.1123	7.035	0.24166	788	0.46569	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2448.11	33	chr10	127738642	.	G	A	2448.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.48;DP=839;ExcessHet=0.1072;FS=3.572;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.99;ReadPosRankSum=-9.260e-01;SOR=0.972	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1050	19	0	2	0
chr10	128103278	128103278	C	G	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon12:c.G7482C:p.E2494D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.997	D	0.939	D	.	.	1.000	N	0.965	L	3.49	T	-1.029	T	0.021	T	0.112	2.471	14.22	-4.34	-0.541	-0.709	0.177	0.115	0.00226310355017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.613e-06	0.0004	1.093e-05	8.279e-06	1.174e-05	5.58e-06	4.36e-06	6.55e-06	5.05e-06	0	0	0	0	0	0	1.174e-05	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.119	0.36101	T	0.997	0.70673	D	0.939	0.67449	D	.	.	.	.	1	0.08975	N	2.195	0.61839	M	3.49	0.05071	T	-0.88	0.23808	N	0.094	0.16725	-1.0286	0.20908	T	0.021	0.08686	T	9	0.13874048	0.26384	T	0.002263	0.04314	T	0.115	0.32236	0.551	0.66716	0.384086055536	0.38021	0.023012059597842277	0.02253	0.253544675859	0.27924	0.240642219782	0.02849	T	0.008993	0.08212	T	-0.312787	0.07504	T	-0.687073	0.06561	T	0.265743708034814	0.23564	T	0.50475	0.15921	T	0.117704056	0.27745	0.10210266	0.24462	0.117704056	0.27744	0.10210266	0.24461	-6.721	0.51969	T	.	.	0.118	0.24260	B	.;.	.;.	0.238562	0.06189	2.640	0.97958759839123999	0.37158	0.05950	0.11907	N	AEFDGBCI	0.035951	0.04710	N	-0.653155426560856	0.17368	0.8931397	-0.910198625553295	0.11853	0.6063969	0.999999978715648	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.3	-4.34	0.03412	-0.632000	0.05587	-5.532000	0.01685	0.454000	0.21428	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2747:0.1905:0.269:0.2659	0.177	0.00111	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	224.33	145	chr10	128103278	.	C	G	224.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-6.054e+00;DP=2113;ExcessHet=0.0000;FS=122.437;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=1.21;ReadPosRankSum=2.30;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:176,0:176:99:.:.:0,120,1800	19	0	1	1
chr10	128103280	128103280	C	G	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon12:c.G7480C:p.E2494Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.998	D	0.96	D	.	.	1.000	N	2.005	M	3.45	T	-1.055	T	0.038	T	0.093	2.378	13.91	1.02	0.328	0.216	4.010	0.052	0.00403197585609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.485e-06	0.0003	2.729e-06	8.268e-06	7.214e-06	2.36e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.214e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.38863	T	0.177	0.31730	T	0.998	0.73220	D	0.96	0.70309	D	.	.	.	.	1	0.08975	N	2.195	0.61839	M	3.45	0.05311	T	-0.8	0.22078	N	0.109	0.19459	-1.0547	0.13119	T	0.038	0.16505	T	9	0.17886433	0.32993	T	0.004032	0.09587	T	0.052	0.14661	0.541	0.65304	0.518970300747	0.51540	0.04773937039326191	0.04716	0.283620578612	0.30797	0.235243186355	0.02379	T	0.011953	0.10589	T	-0.3115	0.07616	T	-0.685224	0.06669	T	0.250668425890041	0.22903	T	0.577942	0.20808	T	0.13167799	0.30686	0.09273483	0.21870	0.13167799	0.30685	0.09273483	0.21869	-8.247	0.62741	D	.	.	0.149	0.33039	B	.;.	.;.	0.759877	0.11298	7.920	0.98886276083847624	0.47912	0.20083	0.20908	N	AEFDGBCI	0.033550	0.04004	N	-0.293471082601323	0.29398	1.630002	-0.540287322695226	0.21065	1.137768	0.999999740880393	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.21	1.02	0.19102	-0.203000	0.09440	-1.074000	0.06411	0.454000	0.21428	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1866:0.5896:0.0:0.2238	4.010	0.09108	970	0.06235	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	110.45	133	chr10	128103280	.	C	G	110.45	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-4.398e+00;DP=2285;ExcessHet=0.0000;FS=93.574;InbreedingCoeff=-0.1054;MLEAC=1;MLEAF=0.033;MQ=60.00;MQRankSum=0.00;QD=0.65;ReadPosRankSum=1.17;SOR=6.517	GT:AD:DP:GQ:PL	0/0:176,0:176:99:0,120,1800	14	0	1	6
chr10	128103281	128103281	C	G	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon12:c.G7479C:p.E2493D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	1.0	D	0.998	D	.	.	1.000	N	1.385	L	3.72	T	-1.007	T	0.023	T	0.208	1.951	12.48	-2.02	-0.539	-0.352	4.172	0.087	0.00413029876425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.599e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.31235	T	0.445	0.13140	T	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	1	0.08975	N	1.795	0.47270	L	3.72	0.04014	T	-0.57	0.17210	N	0.139	0.20528	-1.0070	0.27850	T	0.023	0.09832	T	9	0.17917964	0.33039	T	0.00413	0.09900	T	0.087	0.25287	0.554	0.67133	0.342168650903	0.33825	0.036519337438074756	0.03598	0.227472622474	0.25299	0.246916860342	0.03450	T	0.009336	0.08507	T	-0.289186	0.09718	T	-0.653172	0.08733	T	0.232997477054596	0.22093	T	0.413959	0.10802	T	0.062381484	0.13023	0.07715427	0.17160	0.062381484	0.13023	0.07715427	0.17160	-7.036	0.54296	T	.	.	0.173	0.37969	B	.;.	.;.	-0.254554	0.02823	0.391	0.97478973749574904	0.34178	0.08471	0.14396	N	AEFDGBCI	0.035167	0.04481	N	-0.763170779599195	0.14277	0.7099313	-1.00746602192106	0.09620	0.4796704	0.999999819180609	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.21	-2.02	0.06981	-1.009000	0.03770	-7.411000	0.01162	-1.323000	0.01224	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.3205:0.1775:0.502	4.172	0.09795	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02778	228.09	136	chr10	128103281	.	C	G	228.09	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-6.664e+00;DP=2254;ExcessHet=0.0000;FS=121.561;InbreedingCoeff=-0.0633;MLEAC=1;MLEAF=0.028;MQ=60.00;MQRankSum=0.00;QD=1.23;ReadPosRankSum=2.09;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:176,0:176:99:.:.:0,120,1800	17	0	1	3
chr10	128106918	128106918	C	G	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon12:c.G3842C:p.G1281A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.977	D	0.721	P	0.184	N	1.000	N	1.59	L	4.44	T	-0.901	T	0.010	T	0.078	1.988	12.61	-5.4	-1.226	-0.813	1.322	0.059	0.00358078406199	.	.	.	.	.	.	.	.	.	.	.	.	.	rs748388490	1.368e-06	1.368e-06	2.722e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.22400	T	0.328	0.19660	T	0.977	0.58535	D	0.721	0.54900	P	0.183953	0.03202	N	1.937760	1	0.08975	N	1.59	0.40313	L	4.44	0.02139	T	-0.68	0.23156	N	0.12	0.12198	-0.9009	0.47899	T	0.010	0.03537	T	10	0.085240036	0.14371	T	0.003581	0.08185	T	0.059	0.16972	0.392	0.41606	0.313210971179	0.30940	0.05798748504913216	0.05739	0.220343177176	0.24578	0.189586699009	0.00218	T	0.009538	0.08679	T	-0.363555	0.03933	T	-0.759998	0.03112	T	0.0558696440199568	0.06503	T	0.568943	0.21356	T	0.02462281	0.01313	0.029193465	0.01231	0.02462281	0.01313	0.029193465	0.01230	-6.478	0.56515	T	.	.	0.104	0.18869	B	.;.	.;.	-0.131845	0.03456	0.639	0.90704019624658483	0.19954	0.08517	0.14435	N	AEFBCI	0.078111	0.15754	N	-1.40932661459894	0.02556	0.1130303	-1.61653731441994	0.01558	0.07061103	0.999586443664461	0.40607	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	2.75	-5.4	0.02449	-0.841000	0.04467	-20.000000	0.00162	-1.935000	0.00495	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1389:0.3008:0.2823:0.2779	1.322	0.01991	969	0.06854	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3795.98	101	chr10	128106918	.	C	G	3795.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.956;DP=3059;ExcessHet=0.0000;FS=6.067;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=0.063;SOR=0.934	GT:AD:DP:GQ:PL	0/0:173,0:173:99:0,120,1800	20	0	1	0
chr10	128107510	128107510	G	A	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon12:c.C3250T:p.P1084S	.	.	415	1054	50	3	0	56	0.025878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.376	B	0.159	B	.	.	1.000	N	1.32	L	4.45	T	-0.921	T	0.004	T	0.086	0.182	4.979	-4.92	-1.196	-2.736	3.504	0.010	.	0.0019	0.00638978	0.0053	0.0006	0.0015	0	0.0003	0.0030	0.0099	0.0250	0.0047541	735	154602	rs150235556	0.0041	0.0041	0.0034	0.0048	0.0250	0.0040	0.0040	0.0241	0.0238	0.0005	0.0015	0.0039	5.038e-05	0.0002	0.0154	0.0029	0.0047	0.0250	0.0025	0.0025	0.0021	0.0029	0.0226	0.0023	0.0022	0.0192	0.0179	0.0005	0	0.0025	0.0020	0	9.452e-05	0.0102	0.0028	0.0033	0.0226	0.549	0.06606	T	0.533	0.11115	T	0.274	0.31942	B	0.095	0.34693	B	.	.	.	.	1	0.08975	N	1.2	0.30300	L	4.45	0.02121	T	-0.55	0.19509	N	0.045	0.02559	-0.9208	0.45445	T	0.004	0.01192	T	9	0.0024415255	0.00036	T	.	.	.	0.010	0.01040	.	.	0.0806252709748	0.07271	0.06821357982089558	0.06759	0.0705515030347	0.07905	0.20219168067	0.00523	T	0.006402	0.05833	T	-0.709069	0.00032	T	-0.772381	0.02690	T	0.00125653303169228	0.00012	T	0.392661	0.09777	T	0.017183786	0.00253	0.035346843	0.02770	0.017183786	0.00253	0.035346843	0.02769	-4.658	0.35317	T	.	.	0.125	0.26294	B	.;.	.;.	-0.793587	0.01119	0.051	0.63563244844952571	0.07257	0.05960	0.11919	N	AEFBCI	0.033499	0.03990	N	-1.40033669219104	0.02636	0.1166865	-1.53845965137984	0.02056	0.09401566	0.998780027204579	0.37667	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.15	-4.92	0.02848	-2.506000	0.01038	-12.966000	0.00488	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3384:0.0:0.2863:0.3753	3.504	0.07244	969	0.06854	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3507.98	101	chr10	128107510	.	G	A	3507.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.86;DP=3201;ExcessHet=0.0000;FS=3.224;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=-1.794e+00;SOR=0.528	GT:AD:DP:GQ:PL	0/0:173,0:173:99:0,120,1800	20	0	1	0
chr10	128122941	128122941	A	G	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon4:c.T227C:p.I76T	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.996	D	0.996	D	0.072	N	1.000	N	2.41	M	-2.47	D	0.231	D	0.799	D	0.313	3.022	16.08	4.66	1.968	8.118	12.490	0.470	.	.	0.00479233	0.0017	0	8.64e-05	0	0	0	0.0011	0.0126	0.0015006	232	154602	rs542359557	0.0007	0.0007	0.0004	0.0011	0.0118	0.0007	0.0007	0.0112	0.0109	2.999e-05	2.25e-05	0	2.529e-05	0	0.0002	1.805e-06	0.0010	0.0118	0.0005	0.0005	0.0003	0.0006	0.0141	0.0004	0.0003	0.0114	0.0104	0	0	0	0	0	0	0	0	0.0005	0.0141	0.015	0.68238	D	0.006	0.70582	D	0.996	0.68779	D	0.995	0.84481	D	0.071951	0.21440	N	0.451624	1	0.08975	N	2.035	0.55589	M	-2.47	0.88997	D	-3.19	0.70432	D	0.493	0.52651	0.231	0.86426	D	0.799	0.93181	D	9	0.0077694356	0.00176	T	.	.	.	0.470	0.76421	0.743	0.87486	0.957935713735	0.95748	0.32037114975991715	0.31950	0.325402836445	0.34690	0.353219121695	0.18395	T	0.45043	0.79155	T	-0.231369	0.16468	T	-0.094091	0.63851	T	0.118936364983406	0.14326	T	0.750625	0.37241	T	0.48345107	0.66109	0.35348436	0.60909	0.48345107	0.66110	0.35348436	0.60908	-8.599	0.68254	D	.	.	0.223	0.45458	B	.;.	.;.	3.758024	0.53903	23.4	0.99688737304679742	0.79775	0.94231	0.60513	D	AEFGBI	0.659075	0.63012	D	0.470838210367003	0.65395	4.817069	0.339533533860409	0.57880	3.955536	0.999999999874985	0.74766	0.732398	0.92422	0	0.672317	0.65289	0	0.743671	0.96076	0	0.651492	0.60203	0	.	.	4.66	4.66	0.57857	8.066000	0.89276	10.917000	0.84216	0.691000	0.84096	0.884000	0.31069	0.996000	0.32793	0.949000	0.49496	1.0:0.0:0.0:0.0	12.490	0.55236	976	0.04745	.;Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1336.98	34	chr10	128122941	.	A	G	1336.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.057;DP=840;ExcessHet=0.0000;FS=6.579;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.83;ReadPosRankSum=1.79;SOR=0.411	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1211	20	0	1	0
chr10	131311544	131311544	G	A	exonic	TCERG1L	.	nonsynonymous SNV	TCERG1L:NM_174937:exon1:c.C92T:p.A31V,	.	.	437	1072	12	1	0	14	0.00648749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.573	P	0.053	B	.	.	0.920	N	0.695	N	1.48	T	-1.068	T	0.040	T	0.316	2.786	15.28	2.66	1.354	1.888	8.723	0.038	0.0103016307603	.	0.000399361	0	0	.	0	.	0	.	0	0.0008837	23	26028	rs528370146	0.0018	0.0016	0.0018	0.0018	0.0140	0.0017	0.0017	0.0104	0.0092	0.0004	0.0040	0.0026	0	0	0.0140	0.0018	0.0023	0.0009	0.0019	0.0020	0.0021	0.0018	0.0055	0.0018	0.0017	0.0045	0.0042	0.0004	0	0.0055	0.0021	0	0	0.0069	0.0026	0.0034	0.0006	0.003	0.68238	D	0.036	0.52060	D	0.573	0.38659	P	0.053	0.25678	B	.	.	.	.	0.920061	0.27314	N	1.67	0.42885	L	1.48	0.31731	T	-0.95	0.25332	N	0.167	0.17691	-1.0680	0.09858	T	0.040	0.17277	T	9	0.00785923	0.00178	T	0.010302	0.26676	T	0.038	0.09825	.	.	0.487983534966	0.48431	0.2656238514096568	0.26475	0.104354662582	0.11803	0.895799040794	0.95960	D	0.005823	0.05268	T	-0.473914	0.00804	T	-0.456257	0.27007	T	0.111455697579555	0.13573	T	0.483152	0.14651	T	0.12336879	0.28970	0.31764078	0.57738	0.12336879	0.28969	0.31764078	0.57737	-4.689	0.33270	T	.	.	0.149	0.33016	B	.	.	3.143727	0.42526	21.6	0.99770446606773044	0.85834	0.11268	0.16521	N	AEFDBCI	0.044133	0.07064	N	-0.401997479963527	0.25399	1.378473	-0.402560823985777	0.24921	1.367502	0.999263294661866	0.38940	0.455138	0.09556	0	0.59043	0.45803	0	0.606884	0.38211	0	0.562822	0.20929	0	.	.	2.66	2.66	0.30672	1.031000	0.29773	7.732000	0.67763	0.358000	0.20042	0.024000	0.20007	1.000000	0.68203	0.103000	0.18424	0.0:0.0:1.0:0.0	8.723	0.33611	972	0.05671	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1104.98	35	chr10	131311544	.	G	A	1104.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.159;DP=539;ExcessHet=0.0000;FS=3.875;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.01;ReadPosRankSum=-1.890e-01;SOR=0.632	GT:AD:DP:GQ:PL	0/0:19,0:19:56:0,56,438	20	0	1	0
chr10	131970666	131970666	G	A	exonic	BNIP3	.	nonsynonymous SNV	BNIP3:NM_004052:exon5:c.C706T:p.L236F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.982	D	0.906	P	0.000	D	1.000	D	2.14	M	.	.	-0.212	T	0.400	T	0.537	2.704	15.00	4.3	2.342	1.601	17.659	0.238	0.00838545504326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.191	0.43721	T	.	.	.	.	.	.	0.000120	0.50451	D	0.147023	0.999994	0.58761	D	.	.	.	.	.	.	.	.	.	0.602	0.62018	-0.2121	0.77359	T	0.400	0.75130	T	9	0.41379318	0.56404	T	0.008385	0.22181	T	0.238	0.54217	.	.	0.500994481783	0.49735	0.7413383291708545	0.74079	1.09635788658	0.77590	0.638146281242	0.58300	T	.	.	.	0.0403246	0.57090	T	-0.179853	0.56537	T	0.949204385280609	0.63062	D	0.939006	0.77019	D	0.1524084	0.34598	0.15168965	0.35721	0.1524084	0.34597	0.15168965	0.35720	-9.261	0.69362	D	.	.	0.42	0.60667	A	.;.	.;.	4.232503	0.64109	24.7	0.99833933437728273	0.91542	0.86824	0.46190	D	AEFDBCI	0.298286	0.40764	N	0.509261380632509	0.67634	5.108092	0.447473131187209	0.64554	4.713309	0.999388797983373	0.39415	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.3	4.3	0.50540	1.356000	0.33683	9.651000	0.81171	0.672000	0.70159	0.999000	0.42656	1.000000	0.68203	0.904000	0.43992	0.0:0.0:1.0:0.0	17.659	0.88088	955	0.09969	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	231.1	34	chr10	131970666	.	G	A	231.1	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.343e+00;DP=1361;ExcessHet=0.1072;FS=143.037;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.67;MQRankSum=0.056;QD=0.45;ReadPosRankSum=2.07;SOR=8.349	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	19	0	2	0
chr10	132168061	132168061	C	T	exonic	JAKMIP3	.	nonsynonymous SNV	JAKMIP3:NM_001323086:exon23:c.C2641T:p.P881S,	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019	0	0	0	0	0	0	0.0030	0.0001617	25	154602	rs568352601	0.0002	0.0001	0.0001	0.0003	0.0022	0.0002	0.0002	0.0019	0.0018	8.192e-05	3.538e-05	0	0	0	0.0011	3.149e-05	0.0003	0.0022	7.879e-05	7.874e-05	8.994e-05	6.714e-05	0.0015	4.494e-05	3.51e-05	0.0007	0.0005	4.811e-05	0	0	0	0	0	0	4.41e-05	0	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2025.98	42	chr10	132168061	.	C	T	2025.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.553;DP=1621;ExcessHet=0.0000;FS=2.010;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.16;ReadPosRankSum=0.536;SOR=0.538	GT:AD:DP:GQ:PL	0/1:72,82:154:99:2040,0,1707	20	0	1	0
chr10	132202758	132202758	C	T	exonic	DPYSL4	.	nonsynonymous SNV	DPYSL4:NM_006426:exon12:c.C1394T:p.A465V,	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.064	B	0.02	B	0.051	N	1.000	N	1.04	L	-0.77	T	-0.969	T	0.209	T	0.041	-0.261	2.748	2.22	0.952	1.630	8.996	0.071	0.040247359347	7.7e-05	.	5.909e-05	0.0002	0	0	0.0002	6.129e-05	0	0	4.53e-05	7	154602	rs146961857	2.191e-05	2.189e-05	1.908e-05	2.478e-05	0.0005	1.586e-05	1.357e-05	0.0001	7.55e-05	8.964e-05	0	0	0	0	0.0005	1.529e-05	0.0001	1.16e-05	7.882e-05	7.879e-05	8.988e-05	6.724e-05	0.0002	4.495e-05	3.511e-05	0.0001	9.933e-05	0.0002	0	0	0	0	0	0	2.94e-05	0	0	0.519	0.07283	T	0.536	0.09897	T	0.064	0.23455	B	0.02	0.19048	B	0.051320	0.22993	N	0.461406	1	0.08975	N	1.63	0.41750	L	-0.77	0.73523	T	-1.16	0.29727	N	0.262	0.29659	-0.9693	0.37345	T	0.209	0.56852	T	10	0.10536465	0.19471	T	0.040247	0.59269	D	0.071	0.20720	.	.	0.642944841451	0.63999	0.6627667693811404	0.66213	0.284517017937	0.30878	0.386804848909	0.23218	T	0.175434	0.52502	T	-0.376959	0.03256	T	-0.542584	0.18043	T	0.0217123085932806	0.00877	T	0.886111	0.61235	D	0.03079653	0.02804	0.03172122	0.01801	0.03079653	0.02804	0.03172122	0.01801	-5.658	0.43318	T	.	.	0.080	0.07602	B	.	.	2.607416	0.33856	19.46	0.81826981684612343	0.13879	0.12450	0.17276	N	AEFDBI	0.074022	0.14824	N	-0.89323559201199	0.11002	0.5286765	-0.918001991649903	0.11670	0.5959267	0.715102503306369	0.22865	0.706548	0.73137	0	0.588015	0.36545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.13	2.22	0.27116	1.933000	0.39783	2.631000	0.33693	0.599000	0.40250	0.002000	0.15269	0.026000	0.21063	0.001000	0.02609	0.0:0.7526:0.0:0.2474	8.996	0.35214	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1918.98	38	chr10	132202758	.	C	T	1918.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=1141;ExcessHet=0.0000;FS=1.361;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.01;ReadPosRankSum=2.59;SOR=0.601	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	20	0	1	0
chr10	132342260	132342260	C	T	exonic	LRRC27	.	nonsynonymous SNV	LRRC27:NM_001309474:exon3:c.C8T:p.P3L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.001	D	1.000	D	2.14	M	1.45	T	0.458	D	0.682	D	0.797	3.850	19.56	4.76	2.571	4.400	13.990	0.407	.	.	0.00339457	0.0027	0	0.0006	0	0	0	0.0075	0.0087	0.0008667	134	154602	rs552504940	0.0005	0.0006	0.0003	0.0008	0.0089	0.0005	0.0005	0.0084	0.0082	0	0	0	2.674e-05	0	0.0002	1.025e-05	0.0007	0.0089	0.0004	0.0004	0.0003	0.0006	0.0125	0.0003	0.0003	0.0099	0.0090	0	0	0	0	0	0	0	1.47e-05	0	0.0125	0.0	0.91255	D	0.007	0.69154	D	1.0	0.90584	D	0.999	0.97372	D	0.000932	0.41028	D	0.000000	0.99986	0.81001	D	1.905	0.50856	L	1.35	0.60734	T	-9.19	0.98237	D	0.788	0.86618	0.458	0.89943	D	0.682	0.89025	D	10	0.014656842	0.00308	T	.	.	.	0.407	0.71946	.	.	0.732832767634	0.73045	0.5917787117048532	0.59107	0.382340480175	0.39563	0.650352478027	0.60035	T	0.333732	0.70355	T	-0.152478	0.27923	T	0.0133261	0.71197	D	0.168352643941885	0.18468	T	0.944706	0.80311	D	0.7776035	0.82507	0.60362154	0.76964	0.7776035	0.82509	0.60362154	0.76965	-14.429	0.94723	D	.	.	0.910	0.83439	P	.;.;.;.;.	.;.;.;.;.	5.137801	0.86009	28.8	0.99841868533710865	0.92229	0.91319	0.53294	D	AEFBI	0.508977	0.53864	D	0.719223491739272	0.80892	7.396276	0.675732739274994	0.80542	7.321623	0.999844655312316	0.43971	0.651	0.46895	0	0.588066	0.40923	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.76	4.76	0.60189	3.911000	0.56091	7.329000	0.58196	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	13.990	0.63874	993	0.01300	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	578.98	34	chr10	132342260	.	C	T	578.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.450e-01;DP=737;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=1.27;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1053	20	0	1	0
chr10	132349040	132349040	C	T	exonic	LRRC27	.	nonsynonymous SNV	LRRC27:NM_001143759:exon7:c.C1004T:p.A335V,	.	.	426	1093	2	1	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.921	P	0.147	B	.	.	1.000	N	.	.	2.23	T	-1.014	T	0.023	T	0.052	0.732	7.889	0.472	0.497	-0.977	.	0.032	0.000811324249157	.	0.000998403	0.0015	0.0002	0	0	0	9.225e-05	0.0048	0.0097	0.0008667	134	154602	rs200609882	0.0005	0.0005	0.0003	0.0007	0.0075	0.0005	0.0005	0.0070	0.0068	0	0	0	0	0	0.0005	5.413e-05	0.0006	0.0075	0.0003	0.0003	7.711e-05	0.0006	0.0091	0.0002	0.0002	0.0070	0.0062	4.816e-05	0	0	0	0	0	0	0	0.0005	0.0091	0.246	0.17353	T	0.546	0.09555	T	0.921	0.51088	P	0.147	0.34014	B	.	.	.	.	1	0.08975	N	.	.	.	2.23	0.18083	T	-0.3	0.11913	N	0.134	0.13055	-1.0143	0.25561	T	0.023	0.09832	T	7	0.0052143037	0.00113	T	8.11E-4	0.00649	T	0.032	0.07718	0.162	0.06618	0.0138822411134	0.00435	.	.	.	.	.	.	.	.	.	.	-0.741107	0.00020	T	-0.833181	0.01207	T	0.00947545713807323	0.00122	T	0.354665	0.08016	T	.	.	.	.	.	.	.	.	-3.294	0.13660	T	.	.	0.082	0.08609	B	.	.	-0.114436	0.03555	0.685	0.93581291835216007	0.23428	0.00170	0.01006	N	AEFDBI	0.025769	0.01823	N	-0.743469303993756	0.14812	0.7410047	-0.979979032468418	0.10236	0.514204	0.00177229323147523	0.08872	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.491896	0.07777	0	.	.	0.472	0.472	0.15969	-1.973000	0.01591	-3.090000	0.03070	-1.248000	0.01305	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	582.98	35	chr10	132349040	.	C	T	582.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.415;DP=784;ExcessHet=0.0000;FS=1.819;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.48;ReadPosRankSum=0.382;SOR=0.484	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1322	20	0	1	0
chr10	132785412	132785414	CTT	-	exonic	NKX6-2	.	nonframeshift deletion	NKX6-2:NM_177400:exon2:c.445_447del:p.K149del,	.	.	.	.	.	.	.	.	.	.	.	1630773	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0028	0.00359425	0.0008	0.0102	0	0	0	1.818e-05	0.0014	0.0005	0.0001153	3	26028	rs371783510	0.0003	0.0003	0.0003	0.0002	0.0092	0.0002	0.0002	0.0084	0.0080	0.0092	0.0001	0	0	0	0	1.626e-05	0.0007	0.0004	0.0022	0.0022	0.0022	0.0023	0.0079	0.0020	0.0020	0.0072	0.0070	0.0079	0	0.0003	0	0	0	0	1.471e-05	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1467.94	40	chr10	132785411	.	GCTT	G	1467.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.042;DP=934;ExcessHet=0.0000;FS=1.868;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.82;ReadPosRankSum=-1.175e+00;SOR=0.539	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr10	132785568	132785568	C	A	exonic	NKX6-2	.	nonsynonymous SNV	NKX6-2:NM_177400:exon1:c.G381T:p.W127C,	.	.	.	.	.	.	.	.	.	.	.	1288363	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.000	D	1.000	D	2.73	M	-2.89	D	0.896	D	0.863	D	0.671	2.234	13.43	3.7	1.866	3.001	12.223	0.693	0.494353292417	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1194004535	6.788e-06	6.84e-06	6.555e-06	7.04e-06	0.0006	2.92e-06	2.11e-06	0.0001	4.531e-05	0	0	0	0	0	0.0006	2.043e-06	4.161e-05	4.426e-05	1.323e-05	1.315e-05	2.586e-05	0	0.0002	2.2e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.478e-05	0	0.0002	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000430	0.44522	D	0.209202	1	0.81001	D	2.765	0.80766	M	-2.89	0.91589	D	-8.8	0.97786	D	0.663	0.67218	0.896	0.95625	D	0.863	0.95448	D	10	0.69947267	0.72352	D	0.494353	0.95050	D	0.693	0.88867	0.407	0.44066	0.919587043033	0.91877	0.7866171737524194	0.78613	.	.	0.918076634407	0.98174	D	0.553072	0.84902	D	-0.0619148	0.42606	T	0.102909	0.77101	D	0.592058062553406	0.36087	D	0.928407	0.73561	D	0.87669647	0.89398	0.88016075	0.93572	0.87669647	0.89399	0.88016075	0.93573	-10.382	0.76166	D	0.2251766503049964	0.30418	0.853	0.79927	P	.	.	4.685901	0.75034	26.3	0.9890118801839114	0.48181	0.93679	0.58883	D	AEFDBI	0.616081	0.60277	D	0.446711812939491	0.64015	4.647036	0.30785921747265	0.56002	3.762964	0.99917608276532	0.38651	0.59774	0.34471	0	0.657636	0.61667	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	3.7	3.7	0.41607	1.710000	0.37539	7.008000	0.57221	0.433000	0.20966	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.8269:0.1731:0.0	12.223	0.53755	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	277.98	30	chr10	132785568	.	C	A	277.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.00;DP=470;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.90;ReadPosRankSum=-4.560e-01;SOR=0.721	GT:AD:DP:GQ:PL	0/0:22,0:22:63:0,63,945	20	0	1	0
chr10	132850429	132850429	A	G	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon41:c.T5767C:p.W1923R,	.	.	422	990	104	6	0	116	0.0553435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	1.7	L	0.18	T	-0.538	T	0.235	T	0.683	1.849	12.14	4.14	1.653	2.401	9.858	0.399	.	0.0049	0.00698882	0.0251	0.0032	0.0181	0	0.0076	0.0216	0.0670	0.0544	0.0075549	1168	154602	rs151247898	0.0098	0.0098	0.0090	0.0106	0.0394	0.0097	0.0096	0.0352	0.0335	0.0016	0.0064	0.0063	0.0001	0.0023	0.0394	0.0092	0.0105	0.0306	0.0077	0.0077	0.0078	0.0076	0.0319	0.0073	0.0072	0.0278	0.0263	0.0018	0.0242	0.0105	0.0066	0.0002	0.0020	0.0136	0.0101	0.0109	0.0319	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000100	0.51296	D	0.000000	0.972875	0.25577	N	.	.	.	0.18	0.60361	T	-6.82	0.92980	D	0.862	0.85872	-0.5380	0.67239	T	0.235	0.60234	T	10	0.008827597	0.00200	T	.	.	.	0.399	0.71321	.	.	0.468420198123	0.46471	0.5736029430132835	0.57289	0.719680404555	0.62146	0.545271277428	0.45189	T	0.201223	0.55904	T	-0.258478	0.13079	T	-0.122432	0.61602	T	0.0439943876900533	0.04419	T	0.339966	0.07337	T	0.86401325	0.88393	0.6436816	0.79174	0.86401325	0.88395	0.6436816	0.79174	-9.648	0.71778	D	.	.	0.911	0.83497	P	.	.	3.258967	0.44559	22.0	0.97795370841995799	0.36027	0.21783	0.21522	N	AEFDBI	0.078318	0.15800	N	0.24639609896864	0.53461	3.514831	0.110938199862891	0.45107	2.779827	0.00201962742530028	0.09087	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.14	4.14	0.47821	2.663000	0.46440	3.858000	0.40123	0.756000	0.94297	0.983000	0.35670	0.996000	0.32793	0.049000	0.15107	1.0:0.0:0.0:0.0	9.858	0.40267	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	768.98	37	chr10	132850429	.	A	G	768.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.333;DP=764;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=0.113;SOR=0.658	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr10	132877923	132877923	-	TCCTTCTCTTTACTCCTCTCATTC	exonic	CFAP46	.	nonframeshift insertion	CFAP46:NM_001200049:exon30:c.4169_4170insGAATGAGAGGAGTAAAGAGAAGGA:p.K1389_D1390insENERSKEK,	.	.	435	1033	46	8	0	62	0.0291353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0229	0.0011	0.0102	0.0020	0	0.0170	0.0617	0.0319	0.0008837	23	26028	rs752660068	0.0053	0.0051	0.0041	0.0065	0.0285	0.0052	0.0051	0.0265	0.0261	0.0011	0.0060	0.0189	0.0003	0.0019	0.0285	0.0035	0.0080	0.0275	0.0066	0.0068	0.0069	0.0062	0.0248	0.0062	0.0061	0.0211	0.0198	0.0014	0.0157	0.0080	0.0237	0.0004	0.0011	0.0171	0.0084	0.0086	0.0248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	992.07	39	chr10	132877923	.	G	GTCCTTCTCTTTACTCCTCTCATTC	992.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.18;DP=786;ExcessHet=0.1072;FS=5.768;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.96;MQRankSum=0.00;QD=18.37;ReadPosRankSum=-9.760e-01;SOR=1.644	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1198	19	0	2	0
chr10	132909237	132909237	T	C	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon21:c.A2657G:p.N886S,	.	.	398	1122	2	0	0	2	0.000890472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.244	B	0.077	B	.	.	1.000	N	.	.	2.86	T	-1.046	T	0.047	T	0.009	1.473	10.87	0.968	-0.081	-0.057	5.545	0.026	0.0174934866894	.	0.00119808	0.0006	0	0	0	0	0.0015	0	0.0001	0.0001358	21	154602	rs144559760	0.0007	0.0007	0.0007	0.0008	0.0008	0.0007	0.0007	0.0008	0.0008	6.331e-05	0.0006	3.971e-05	0.0001	0.0009	0.0004	0.0008	0.0008	0.0002	0.0008	0.0008	0.0008	0.0008	0.0026	0.0007	0.0007	0.0020	0.0017	7.218e-05	0	0.0026	0	0	0.0014	0	0.0009	0.0033	0	0.514	0.07401	T	0.064	0.44905	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.86	0.10482	T	-1.52	0.36980	N	0.048	0.01999	-1.0465	0.15389	T	0.047	0.20156	T	8	0.0077299476	0.00175	T	0.017493	0.39209	T	0.026	0.05648	.	.	0.0138822411134	0.00435	0.03860372121444109	0.03806	0.0883773081995	0.09985	0.414081811905	0.27021	T	0.026803	0.19761	T	-0.7169	0.00029	T	-0.858901	0.00855	T	0.00493071135133505	0.00053	T	0.39716	0.10029	T	0.028576795	0.02217	0.03600422	0.02962	0.028576795	0.02216	0.03600422	0.02962	-2.957	0.09726	T	.	.	0.057	0.00563	B	.	.	-0.172171	0.03235	0.544	0.69978438948517518	0.09146	0.03826	0.09169	N	AEFDBI	0.072236	0.14410	N	-0.79873463242146	0.13343	0.656642	-0.868723344526694	0.12839	0.6627215	0.0597327303987961	0.15172	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.85	0.968	0.18799	-0.430000	0.07043	-2.362000	0.03850	-2.896000	0.00163	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1627:0.1451:0.6922	5.545	0.16346	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1202.98	33	chr10	132909237	.	T	C	1202.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.240e-01;DP=777;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=-2.830e-01;SOR=0.688	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1071	20	0	1	0
chr10	132922556	132922556	G	T	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon12:c.C1409A:p.T470N,	.	.	416	1065	39	2	0	43	0.0197883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.95	T	.	.	.	.	0.752	N	1.000	N	.	.	3.04	T	-1.010	T	0.027	T	0.022	-2.182	0.005	-0.649	-0.226	0.165	6.353	0.029	.	.	0.00978435	0.0177	0.0037	0.0146	0	0	0.0107	0.0195	0.0251	0.0033311	515	154602	rs41301115	0.0105	0.0100	0.0099	0.0111	0.0279	0.0103	0.0103	0.0269	0.0266	0.0013	0.0072	0.0096	5.598e-05	0.0070	0.0101	0.0101	0.0106	0.0279	0.0079	0.0079	0.0072	0.0087	0.0296	0.0076	0.0074	0.0256	0.0241	0.0015	0	0.0092	0.0104	0	0.0090	0.0068	0.0105	0.0066	0.0296	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.752325	0.09690	N	0.860345	1	0.08975	N	.	.	.	3.04	0.08810	T	1.45	0.00785	N	0.025	0.00485	-1.0095	0.27074	T	0.027	0.11441	T	7	0.0035613477	0.00064	T	.	.	.	0.029	0.06676	.	.	.	.	0.09840789490100733	0.09771	0.124680466888	0.14042	0.364000618458	0.19967	T	0.003978	0.03393	T	-0.770917	0.00013	T	-0.859196	0.00851	T	0.00565307856650111	0.00062	T	0.393561	0.09813	T	0.03946856	0.05456	0.04422583	0.05683	0.03946856	0.05456	0.04422583	0.05683	-4.835	0.34997	T	.	.	0.065	0.02038	B	.	.	-0.983138	0.00795	0.026	0.20066372410375613	0.00705	0.03741	0.09041	N	AEFDBI	0.044977	0.07303	N	-0.843404712010184	0.12212	0.593932	-0.952104417135243	0.10874	0.5505145	0.0965582444146482	0.16256	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	3.28	-0.649	0.10885	-0.188000	0.09638	-1.355000	0.05637	-0.854000	0.02687	0.027000	0.20232	0.000000	0.08366	0.001000	0.02609	0.0:0.1079:0.5276:0.3645	6.353	0.20592	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2860.11	37	chr10	132922556	.	G	T	2860.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.69;DP=1339;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.02;ReadPosRankSum=0.060;SOR=0.707	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1450	19	0	2	0
chr10	132922700	132922700	G	A	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon12:c.C1265T:p.T422M,	.	.	422	1090	10	0	0	10	0.00456621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	.	.	0.998	N	.	.	2.82	T	-0.908	T	0.117	T	0.179	0.253	5.367	-3.1	-0.563	0.205	6.306	0.048	0.0396085375064	.	0.00219649	0.0019	0.0007	0.0031	0	0	0.0014	0.0063	0.0026	0.0005498	85	154602	rs140185143	0.0012	0.0012	0.0012	0.0013	0.0078	0.0012	0.0012	0.0059	0.0053	0.0006	0.0029	0.0030	0	0.0001	0.0078	0.0010	0.0020	0.0029	0.0011	0.0011	0.0011	0.0011	0.0033	0.0010	0.0009	0.0024	0.0021	0.0003	0	0.0031	0.0026	0.0002	0	0.0068	0.0011	0.0009	0.0033	0.077	0.34095	T	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.82	0.10871	T	-1.1	0.28497	N	0.127	0.12055	-0.9085	0.47037	T	0.117	0.41142	T	6	0.008535087	0.00193	T	0.039609	0.58906	D	0.048	0.13305	.	.	0.0297737177859	0.01360	0.07209480817403437	0.07146	0.441977436044	0.44176	0.400841325521	0.25186	T	0.027875	0.20317	T	-0.610348	0.00126	T	-0.647164	0.09154	T	0.00700018913881569	0.00080	T	0.792521	0.43410	T	0.021688124	0.00785	0.0491156	0.07439	0.021688124	0.00784	0.0491156	0.07439	-5.299	0.39933	T	.	.	0.096	0.15520	B	.	.	2.345217	0.30063	18.32	0.99152462879613545	0.53848	0.00391	0.01965	N	AEFDBI	0.031433	0.03361	N	-0.912366698047863	0.10552	0.5047728	-1.13015712784796	0.07129	0.3456308	0.30643274557909	0.19242	0.646311	0.45356	0	0.588015	0.36545	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	3.28	-3.1	0.04991	-0.010000	0.12681	0.354000	0.17507	-0.148000	0.12190	0.000000	0.06391	0.002000	0.18203	0.005000	0.06747	0.3834:0.1371:0.4795:0.0	6.306	0.20344	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	907.11	37	chr10	132922700	.	G	A	907.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.572;DP=790;ExcessHet=0.1072;FS=0.915;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=0.673;SOR=0.535	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1450	19	0	2	0
chr10	132924795	132924795	G	A	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon11:c.C1157T:p.T386M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	.	.	.	.	.	.	1.000	N	.	.	0.53	T	-0.875	T	0.196	T	0.486	2.369	13.88	3.53	1.982	6.180	12.465	0.208	0.0898518613755	.	.	0.0001	0	0	0	0	0.0004	0	0	1.29e-05	2	154602	rs762427361	2.938e-05	3.557e-05	3.181e-05	2.687e-05	0.0004	2.214e-05	1.95e-05	0.0002	0.0002	0	0.0004	0	0.0001	0	0.0002	1.506e-05	8.864e-05	1.34e-05	2.628e-05	2.626e-05	2.568e-05	2.69e-05	0.0002	8.14e-06	5.14e-06	2.259e-05	9.07e-06	0	0	0.0001	0	0.0002	0	0	1.47e-05	0	0	0.061	0.37118	T	0.098	0.39040	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.53	0.55090	T	-3.24	0.65171	D	0.636	0.64903	-0.8748	0.50166	T	0.196	0.55042	T	6	0.40097713	0.55564	T	0.089852	0.75405	D	0.208	0.49714	0.355	0.35571	0.350307294319	0.34646	0.2104324096558858	0.20959	0.507810000154	0.48961	0.738527774811	0.72755	T	0.056799	0.30390	T	-0.268137	0.11966	T	-0.261026	0.48723	T	0.258515828625639	0.23250	T	0.828317	0.49240	T	0.07722579	0.17516	0.18069057	0.40885	0.07722579	0.17515	0.18069057	0.40884	-8.379	0.63625	D	.	.	0.156	0.34580	B	.	.	4.287056	0.65350	24.8	0.99765132125334899	0.85417	0.87653	0.47264	D	AEFBI	0.639228	0.61736	D	0.00805920580350525	0.42221	2.539871	-0.077646399917081	0.36317	2.111906	0.878855969700126	0.25575	0.700653	0.57754	0	0.573888	0.26702	0	0.717052	0.78885	0	0.613276	0.41899	0	.	.	3.53	3.53	0.39533	7.107000	0.76688	9.452000	0.80851	0.665000	0.62972	0.969000	0.34210	1.000000	0.68203	0.352000	0.25704	0.0:0.0:1.0:0.0	12.465	0.55094	994	0.00715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1279.98	43	chr10	132924795	.	G	A	1279.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.431;DP=850;ExcessHet=0.0000;FS=0.800;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.22;ReadPosRankSum=-7.820e-01;SOR=0.771	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1108	20	0	1	0
chr10	133128409	133128409	T	A	exonic	ADGRA1	.	nonsynonymous SNV	ADGRA1:NM_001291085:exon4:c.T290A:p.F97Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.993	D	0.976	D	0.000	D	1.000	D	2.095	M	1.21	T	-0.778	T	0.195	T	0.576	3.944	20.2	4.75	1.910	5.746	12.491	0.250	0.0228975837807	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.873e-07	6.84e-07	1.367e-06	0	9.012e-07	0	0	.	.	0	0	0	0	0	0	9.012e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.038	0.58089	D	0.993	0.65571	D	0.976	0.73562	D	0.000295	0.46274	D	0.092126	0.999925	0.51308	D	.	.	.	1.21	0.52867	T	-2.68	0.57275	D	0.405	0.63120	-0.7784	0.56392	T	0.195	0.54913	T	10	0.35665372	0.52399	T	0.022898	0.45827	T	0.250	0.55888	0.676	0.81398	0.450506546316	0.44672	0.5350836657821715	0.53433	1.2980656592	0.82949	0.924723744392	0.98661	D	0.227613	0.59295	T	0.0557406	0.59076	T	-0.157709	0.58557	T	0.989749252796173	0.79965	D	0.848015	0.52922	T	0.64908046	0.75315	0.48003247	0.69885	0.64908046	0.75316	0.48003247	0.69885	-11.75	0.84419	D	.	.	0.671	0.71779	P	.;.;.	.;.;.	4.415600	0.68354	25.2	0.99466858343882958	0.66102	0.95060	0.63292	D	AEFDBI	0.784674	0.71529	D	0.495985291221067	0.66854	5.004481	0.425115378595345	0.63134	4.541221	0.997864705444554	0.36124	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.75	4.75	0.59954	5.860000	0.69297	7.636000	0.62963	0.489000	0.22316	1.000000	0.71638	1.000000	0.68203	0.468000	0.28296	0.0:0.0:0.0:1.0	12.491	0.55238	994	0.00715	.;GPCR, family 2-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1396.98	33	chr10	133128409	.	T	A	1396.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.189e+00;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.55;ReadPosRankSum=0.268;SOR=0.642	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1254	20	0	1	0
chr10	133128436	133128436	G	A	exonic	ADGRA1	.	nonsynonymous SNV	ADGRA1:NM_001291085:exon4:c.G317A:p.R106H	.	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.911	P	0.557	P	0.000	D	1.000	D	2.065	M	1.07	T	-0.789	T	0.164	T	0.479	4.547	24.6	4.85	2.419	4.327	15.822	0.167	0.0229794724119	.	.	1.415e-05	0.0002	0	0	0	0	0	0	6.5e-06	1	154602	rs764981996	3.376e-05	3.762e-05	3.014e-05	3.742e-05	0.0004	2.584e-05	2.328e-05	6.236e-05	2.575e-05	9.109e-05	0	0	0	1.961e-05	0.0004	3.158e-05	0.0001	2.359e-05	1.971e-05	1.97e-05	2.57e-05	1.345e-05	4.826e-05	5.24e-06	2.45e-06	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	1.47e-05	0	0	0.013	0.65419	D	0.005	0.74150	D	0.865	0.50336	P	0.45	0.49454	P	0.000010	0.62929	D	0.000000	0.999535	0.47451	D	.	.	.	1.07	0.46028	T	-3.6	0.72710	D	0.21	0.49237	-0.7890	0.55788	T	0.164	0.50029	T	10	0.2514323	0.42483	T	0.022979	0.45913	T	0.167	0.42761	.	.	0.562188709859	0.55881	0.5394102907029571	0.53866	1.38279539762	0.84817	0.850356698036	0.89669	D	0.134504	0.46579	T	0.00667798	0.52571	T	-0.228184	0.51947	T	0.966389179229736	0.67566	D	0.958404	0.88325	D	0.4890437	0.66445	0.39176416	0.63939	0.4890437	0.66446	0.39176416	0.63939	-8.414	0.63858	D	.	.	0.244	0.47794	B	.;.;.	.;.;.	4.833421	0.78843	27.0	0.99951199379917866	0.99944	0.78595	0.38800	D	AEFDBI	0.672005	0.63856	D	0.446055468506146	0.63978	4.642575	0.45014916516137	0.64725	4.734547	0.878693008669288	0.25571	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.85	4.85	0.62375	4.568000	0.60573	8.294000	0.76922	0.495000	0.22486	1.000000	0.71638	1.000000	0.68203	0.812000	0.38265	0.0:0.0:1.0:0.0	15.822	0.78443	994	0.00715	.;GPCR, family 2-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1581.98	33	chr10	133128436	.	G	A	1581.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.573;DP=836;ExcessHet=0.0000;FS=0.673;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.97;ReadPosRankSum=1.33;SOR=0.638	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1254	20	0	1	0
chr10	133128606	133128606	G	A	exonic	ADGRA1	.	nonsynonymous SNV	ADGRA1:NM_001291085:exon4:c.G487A:p.A163T	.	.	424	1094	4	0	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.995	D	0.892	P	0.000	D	1.000	D	2.2	M	0.98	T	-0.623	T	0.231	T	0.597	4.814	27.2	4.85	2.419	7.324	15.822	0.189	0.0164207364839	7.7e-05	.	0.0003	0.0003	0.0002	0	0	0.0001	0.0027	0.0008	0.0001035	16	154602	rs374324374	5.177e-05	5.678e-05	4.256e-05	6.109e-05	0.0003	4.23e-05	3.858e-05	0.0002	0.0002	0	0.0003	0	2.552e-05	0	0.0002	2.798e-05	8.344e-05	0.0003	6.571e-05	6.567e-05	3.853e-05	9.418e-05	0.0008	3.517e-05	2.616e-05	0.0003	0.0002	2.413e-05	0	6.541e-05	0	0.0002	0	0	4.41e-05	0	0.0008	0.058	0.37750	T	0.004	0.74150	D	0.995	0.67487	D	0.892	0.63276	P	0.000016	0.62929	D	0.000000	1	0.81001	D	.	.	.	0.98	0.42122	T	-1.97	0.45587	N	0.463	0.64989	-0.6226	0.63880	T	0.231	0.59657	T	10	0.21118152	0.37538	T	0.016421	0.37668	T	0.189	0.46613	.	.	0.366868811517	0.36303	0.4261516571525803	0.42532	1.2168089278	0.80992	0.771340727806	0.77624	T	0.04981	0.28414	T	-0.189805	0.22287	T	-0.19616	0.55010	T	0.644749760627747	0.38238	D	0.948305	0.81346	D	0.2225655	0.44858	0.3705666	0.62303	0.2225655	0.44858	0.3705666	0.62303	-8.655	0.65451	D	.	.	0.235	0.46870	B	.;.;.	.;.;.	4.799537	0.77971	26.8	0.99904873136248074	0.97576	0.98806	0.87096	D	AEFDBI	0.860086	0.77789	D	0.651250108525552	0.76450	6.488732	0.601055717054565	0.75017	6.236633	0.999997231530201	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.85	4.85	0.62375	7.619000	0.82253	6.314000	0.55434	0.495000	0.22486	1.000000	0.71638	1.000000	0.68203	0.628000	0.32104	0.0:0.0:1.0:0.0	15.822	0.78443	994	0.00715	.;GPCR, family 2-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3433.08	33	chr10	133128606	.	G	A	3433.08	.	AC=2;AF=0.048;AN=42;DP=867;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.33;SOR=1.234	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1254	20	1	0	0
chr10	133167414	133167414	C	T	exonic	KNDC1	.	nonsynonymous SNV	KNDC1:NM_001347864:exon2:c.C136T:p.R46W	.	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	2.32	M	1.57	T	-0.862	T	0.128	T	0.746	2.672	14.89	3.1	0.769	4.385	10.704	0.391	.	0.0057	0.00159744	0.0113	0.0028	0.0079	0	0.0308	0.0174	0.0157	0.0015	0.0057826	894	154602	rs145440398	0.0097	0.0097	0.0100	0.0095	0.0114	0.0096	0.0095	0.0112	0.0111	0.0014	0.0034	0.0028	2.552e-05	0.0139	0.0010	0.0114	0.0074	0.0009	0.0067	0.0067	0.0067	0.0067	0.0106	0.0064	0.0062	0.0100	0.0097	0.0021	0.0022	0.0027	0.0029	0.0004	0.0138	0	0.0106	0.0052	0.0004	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.995	0.83170	D	0.000273	0.46590	D	0.000000	0.992497	0.81001	D	.	.	.	1.57	0.29342	T	-5.65	0.86988	D	0.8	0.79599	-0.8622	0.51104	T	0.128	0.43585	T	10	0.01328823	0.00282	T	.	.	.	0.391	0.70684	.	.	0.364342057095	0.36045	0.8020639365443952	0.80160	0.662220872805	0.58961	0.863450467587	0.91619	D	0.522209	0.83312	D	-0.252946	0.13739	T	-0.124439	0.61435	T	0.0252181224863887	0.01302	T	0.942106	0.78341	D	0.75923353	0.81408	0.5774754	0.75517	0.75923353	0.81409	0.5774754	0.75518	-9.268	0.69406	D	.	.	0.528	0.65820	A	.	.	4.296847	0.65572	24.8	0.9989521313216736	0.96819	0.93995	0.59797	D	AEFDBIJ	0.623685	0.60754	D	0.364838542316216	0.59526	4.132898	0.237089382617845	0.51918	3.370348	0.998920554403203	0.37985	0.718356	0.82227	0	0.547309	0.14657	0	0.570548	0.19454	0	0.567892	0.33627	0	.	.	4.05	3.1	0.34780	3.663000	0.54256	1.271000	0.25291	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.316000	0.24877	0.1929:0.8071:0.0:0.0	10.704	0.45143	994	0.00715	KIND domain|KIND domain|KIND domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1259.98	37	chr10	133167414	.	C	T	1259.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.126;DP=847;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.56;ReadPosRankSum=-2.610e-01;SOR=0.744	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1231	20	0	1	0
chr10	133178866	133178866	G	A	exonic	KNDC1	.	nonsynonymous SNV	KNDC1:NM_001347865:exon4:c.G392A:p.R131H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1390062632	0	1.59e-06	0	0	.	0	0	.	.	.	.	.	.	.	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	619.98	36	chr10	133178866	.	G	A	619.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.063;DP=713;ExcessHet=0.0000;FS=1.489;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.79;ReadPosRankSum=0.882;SOR=0.446	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,877	20	0	1	0
chr10	133183921	133183921	G	A	exonic	KNDC1	.	nonsynonymous SNV	KNDC1:NM_152643:exon5:c.G557A:p.R186H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.354	B	0.016	B	0.114	N	0.997	N	1.61	L	2.64	T	-1.053	T	0.029	T	0.174	1.219	9.946	-1.48	-0.156	0.506	3.442	0.042	0.00594117109914	.	.	8.37e-06	0	0	0	0	0	0	6.473e-05	6.5e-06	1	154602	rs763861007	5.51e-06	8.209e-06	4.102e-06	6.939e-06	3.5e-05	2.37e-06	1.71e-06	9.3e-06	4.58e-06	0	0	0	0	0	0	3.621e-06	1.671e-05	3.5e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.27783	T	0.204	0.41742	T	0.007	0.33710	B	0.001	0.17743	B	0.113627	0.19308	N	0.459833	0.996613	0.22959	N	.	.	.	2.64	0.18875	T	-1.88	0.45404	N	0.197	0.21710	-1.0527	0.13655	T	0.029	0.12673	T	10	0.063792765	0.08363	T	0.005941	0.15490	T	0.042	0.11227	0.382	0.39970	0.141422826196	0.13715	0.2096099483935992	0.20876	0.757923585478	0.64099	0.288371533155	0.08685	T	0.052324	0.29130	T	-0.218062	0.18257	T	-0.551008	0.17229	T	0.229088857769966	0.21908	T	0.775622	0.42574	T	0.038623996	0.05182	0.034670252	0.02574	0.038623996	0.05182	0.034670252	0.02574	-4.388	0.29394	T	.	.	0.081	0.10111	B	.;.	.;.	2.184305	0.27845	17.60	0.98553652394448754	0.42884	0.33653	0.24880	N	AEFDBI	0.061758	0.11828	N	-0.557283904420672	0.20257	1.066486	-0.550882703489595	0.20783	1.121305	0.0217318027201447	0.13373	0.718356	0.82227	0	0.578056	0.33634	0	0.570548	0.19454	0	0.562822	0.20929	0	.	.	4.15	-1.48	0.08286	0.725000	0.25638	3.563000	0.39095	0.674000	0.70861	0.999000	0.42656	1.000000	0.68203	0.427000	0.27384	0.4708:0.0:0.3435:0.1857	3.442	0.07036	994	0.00715	KIND domain|KIND domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1486.98	33	chr10	133183921	.	G	A	1486.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.51;DP=957;ExcessHet=0.0000;FS=2.072;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.12;ReadPosRankSum=-4.110e-01;SOR=0.599	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1089	20	0	1	0
chr10	133186103	133186103	G	A	exonic	KNDC1	.	nonsynonymous SNV	KNDC1:NM_152643:exon6:c.G755A:p.R252Q,	.	.	389	1129	4	0	0	4	0.00176835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.964	D	0.267	B	0.351	N	1.000	N	-0.55	N	2.77	T	-0.985	T	0.010	T	0.07	-0.379	2.217	-5.34	-2.075	-1.654	0.18	0.066	.	0.0033	0.00239617	0.0051	0.0006	0.0016	0.0003	0.0019	0.0080	0	0.0025	0.003758	581	154602	rs201213037	0.0067	0.0067	0.0068	0.0066	0.0081	0.0066	0.0066	0.0079	0.0079	0.0009	0.0014	0.0005	5.113e-05	0.0035	0.0013	0.0081	0.0051	0.0022	0.0044	0.0044	0.0049	0.0039	0.0078	0.0041	0.0040	0.0072	0.0070	0.0016	0.0110	0.0013	0.0003	0	0.0025	0	0.0078	0.0024	0.0025	0.691	0.04289	T	0.645	0.07518	T	0.964	0.55854	D	0.267	0.39770	B	0.350761	0.04243	N	2.366740	1	0.08975	N	.	.	.	2.77	0.17271	T	0.49	0.02993	N	0.074	0.04790	-0.9848	0.33879	T	0.010	0.03719	T	10	0.004485905	0.00092	T	.	.	.	0.066	0.19193	.	.	0.0297737177859	0.01360	0.16293713084848604	0.16213	0.211569426823	0.23658	0.39008924365	0.23682	T	0.01885	0.15125	T	-0.714668	0.00030	T	-0.793092	0.02081	T	0.000954571706799216	0.00009	T	0.478452	0.14421	T	0.0155137	0.00142	0.0211115	0.00174	0.0155137	0.00142	0.0211115	0.00174	-3.505	0.16501	T	.	.	0.072	0.04889	B	.;.	.;.	0.266516	0.06444	2.918	0.79203391823998037	0.12636	0.00491	0.02326	N	AEFDBI	0.022942	0.01212	N	-1.79102399814421	0.00567	0.02443908	-1.89967322269335	0.00490	0.02172874	0.934597831138304	0.27177	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	2.67	-5.34	0.02496	-0.957000	0.03971	-0.832000	0.07252	-1.383000	0.01158	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2911:0.2681:0.1659:0.2749	0.18	0.00114	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1097.98	34	chr10	133186103	.	G	A	1097.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.570e+00;DP=1002;ExcessHet=0.0000;FS=0.951;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.15;ReadPosRankSum=-1.207e+00;SOR=0.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,120,1800	20	0	1	0
chr10	133186208	133186208	G	C	exonic	KNDC1	.	nonsynonymous SNV	KNDC1:NM_152643:exon6:c.G860C:p.R287P,	.	.	408	1110	4	0	0	4	0.00179856	.	.	2325030	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	0.742	P	0.211	B	0.954	N	1.000	N	0.805	L	2.67	T	-1.034	T	0.031	T	0.23	0.336	5.823	2.27	1.056	0.067	4.953	0.017	0.00865584916163	.	.	0.0003	0	0	0	0	0.0003	0	0.0013	0.0002199	34	154602	rs752105461	0.0002	0.0002	0.0001	0.0002	0.0025	0.0002	0.0002	0.0015	0.0012	3.092e-05	5.041e-05	0.0026	0	2.024e-05	0.0025	8.249e-05	0.0004	0.0009	0.0002	0.0002	0.0002	0.0003	0.0012	0.0001	0.0001	0.0005	0.0004	2.407e-05	0	6.534e-05	0.0035	0	0	0	0.0001	0.0005	0.0012	0.297	0.15458	T	0.316	0.19362	T	0.494	0.43019	P	0.077	0.37346	B	0.953897	0.07674	N	1.026230	1	0.08975	N	.	.	.	2.67	0.18724	T	-1.15	0.29525	N	0.174	0.23884	-1.0338	0.19236	T	0.031	0.13330	T	10	0.011535138	0.00252	T	0.008656	0.22878	T	0.017	0.02790	0.262	0.20631	0.170165803431	0.16609	0.2459666774567312	0.24510	0.270215761304	0.29546	0.357813179493	0.19066	T	0.033244	0.22831	T	-0.522275	0.00427	T	-0.600975	0.12730	T	0.017870412163044	0.00514	T	0.335566	0.07155	T	0.16667916	0.37019	0.08654457	0.20057	0.16667916	0.37019	0.08654457	0.20057	-3.828	0.21223	T	.	.	0.120	0.29833	B	.;.	.;.	0.773306	0.11435	8.041	0.92218175862570817	0.21592	0.03967	0.09375	N	AEFDBI	0.103335	0.20706	N	-0.671549333671584	0.16835	0.8612437	-0.756511160625438	0.15562	0.8190947	0.0406992602695945	0.14451	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.21	2.27	0.27501	-0.015000	0.12572	0.119000	0.14890	0.647000	0.52776	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1169:0.2216:0.6614:0.0	4.953	0.13373	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1189.98	34	chr10	133186208	.	G	C	1189.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=1001;ExcessHet=0.0000;FS=11.752;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.31;ReadPosRankSum=-1.298e+00;SOR=0.117	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1395	20	0	1	0
chr10	133186363	133186363	C	T	exonic	KNDC1	.	nonsynonymous SNV	KNDC1:NM_152643:exon6:c.C1015T:p.P339S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.952	P	0.5	P	0.075	N	1.000	N	0.975	L	2.78	T	-1.015	T	0.030	T	0.1	0.658	7.526	-2.51	-0.613	0.040	9.275	0.043	0.00626467971827	.	.	6.051e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs370366188	4.04e-05	4.036e-05	1.499e-05	6.607e-05	0.0007	3.182e-05	2.913e-05	0.0005	0.0005	0	0	0	0	0	0	0	1.656e-05	0.0007	6.564e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.1	0.38742	T	0.952	0.54136	P	0.5	0.47649	P	0.075367	0.21227	N	0.431884	1	0.08975	N	.	.	.	2.78	0.17113	T	-3.4	0.70793	D	0.09	0.06854	-1.0148	0.25400	T	0.030	0.13111	T	10	0.04446858	0.03407	T	0.006265	0.16435	T	0.043	0.11576	0.213	0.13210	0.126345400529	0.12197	0.3125470952164852	0.31167	0.208063301715	0.23274	0.323703527451	0.13981	T	0.169778	0.51728	T	-0.514832	0.00471	T	-0.641037	0.09593	T	0.101405594268892	0.12510	T	0.582642	0.21138	T	0.20100436	0.42095	0.22502428	0.47433	0.20100436	0.42095	0.22502428	0.47432	-3.313	0.13906	T	.	.	0.084	0.14751	B	.;.	.;.	0.743353	0.11128	7.772	0.63350466198502686	0.07201	0.05139	0.10949	N	AEFDBI	0.045440	0.07432	N	-0.869617278647413	0.11571	0.5590796	-1.02673696601192	0.09199	0.4563484	0.036667730379573	0.14255	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.84	-2.51	0.05996	0.140000	0.15877	-0.374000	0.09587	0.567000	0.28720	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.3086:0.5945:0.0968	9.275	0.36857	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1740.98	34	chr10	133186363	.	C	T	1740.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=1118;ExcessHet=0.0000;FS=1.935;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=-1.083e+00;SOR=0.846	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1395	20	0	1	0
chr10	133186417	133186417	G	A	exonic	KNDC1	.	nonsynonymous SNV	KNDC1:NM_152643:exon6:c.G1069A:p.A357T,	.	.	427	1091	4	0	0	4	0.00182983	.	.	2325297	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.041	B	0.018	B	0.558	N	1.000	N	0.145	N	2.55	T	-1.007	T	0.021	T	0.029	0.095	4.514	-1.69	-0.434	-0.933	4.321	0.011	0.00875637007389	.	.	0.0003	0	0	0	0	0.0003	0	0.0010	0.0002911	45	154602	rs201959912	0.0002	0.0002	0.0001	0.0002	0.0024	0.0002	0.0002	0.0015	0.0012	2.987e-05	4.474e-05	0.0025	0	1.919e-05	0.0024	8.634e-05	0.0004	0.0010	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0005	0.0004	2.405e-05	0	0.0001	0.0035	0	0	0	0.0001	0.0005	0.0012	1.0	0.00964	T	1.0	0.02693	T	0.006	0.21357	B	0.005	0.18489	B	0.558271	0.05410	N	1.271130	1	0.08975	N	.	.	.	2.55	0.20122	T	0.06	0.06488	N	0.029	0.00825	-1.0068	0.27912	T	0.021	0.08778	T	10	0.0071769655	0.00163	T	0.008756	0.23123	T	0.011	0.01250	0.07	0.00395	0.0297737177859	0.01360	0.23967221302424227	0.23881	0.177105754943	0.19927	0.287326157093	0.08534	T	0.027076	0.19905	T	-0.683419	0.00046	T	-0.827265	0.01311	T	0.00770742257572953	0.00090	T	0.393061	0.09795	T	0.032224067	0.03207	0.044767126	0.05872	0.032224067	0.03207	0.044767126	0.05872	-4.169	0.26301	T	.	.	0.092	0.13690	B	.;.	.;.	-0.188007	0.03153	0.510	0.58031025430780836	0.05901	0.01706	0.05419	N	AEFDBI	0.039509	0.05748	N	-1.54109555196729	0.01587	0.06935517	-1.55758168669406	0.01924	0.08779216	0.0235786180357086	0.13517	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.91	-1.69	0.07747	-1.269000	0.02942	-0.171000	0.11226	-1.775000	0.00659	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4341:0.1677:0.3982:0.0	4.321	0.10456	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	982.98	34	chr10	133186417	.	G	A	982.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.564;DP=1056;ExcessHet=0.0000;FS=3.921;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.93;ReadPosRankSum=0.018;SOR=0.364	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1395	20	0	1	0
chr10	133201759	133201759	C	T	exonic	KNDC1	.	nonsynonymous SNV	KNDC1:NM_152643:exon17:c.C3248T:p.P1083L,	.	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.408	B	0.156	B	0.247	N	1.000	N	1.67	L	2.76	T	-1.030	T	0.027	T	0.207	3.178	16.63	3.39	0.925	-0.040	10.332	0.029	0.00816806431382	0.0008	0.000399361	0.0012	0.0005	0.0007	0	0.0048	0.0015	0	0.0003	0.0006792	105	154602	rs199987564	0.0013	0.0013	0.0014	0.0012	0.0015	0.0012	0.0012	0.0014	0.0014	0.0002	0.0004	0	0	0.0025	0.0006	0.0015	0.0012	6.308e-05	0.0010	0.0010	0.0008	0.0011	0.0014	0.0008	0.0008	0.0012	0.0011	0.0001	0	0.0001	0	0	0.0034	0	0.0014	0.0019	0.0002	0.367	0.11659	T	0.211	0.38305	T	0.296	0.35000	B	0.041	0.33210	B	0.246723	0.15595	N	0.531595	0.999988	0.19072	N	.	.	.	2.76	0.11515	T	-3.72	0.73151	D	0.125	0.11769	-1.0296	0.20583	T	0.027	0.11663	T	10	0.0051036477	0.00110	T	0.008168	0.21649	T	0.029	0.06676	.	.	0.136095386433	0.13204	0.21785105871575244	0.21701	0.193488600523	0.21683	0.617372751236	0.55357	T	0.105298	0.41564	T	-0.566737	0.00231	T	-0.637295	0.09868	T	0.0366104872313449	0.03088	T	0.666933	0.27600	T	0.05161446	0.09506	0.06641321	0.13602	0.05161446	0.09506	0.06641321	0.13602	-4.202	0.26780	T	.	.	0.077	0.12465	B	.;.	.;.	0.394110	0.07656	4.324	0.99249258903158122	0.56825	0.09750	0.15435	N	AEFDBI	0.085129	0.17257	N	-0.755441898802944	0.14485	0.721988	-0.820084943732764	0.14009	0.7297834	0.996354121272577	0.34689	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.3	3.39	0.37919	0.856000	0.27473	0.744000	0.21184	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.899:0.0:0.101	10.332	0.43013	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1240.98	33	chr10	133201759	.	C	T	1240.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.289e+00;DP=906;ExcessHet=0.0000;FS=0.784;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=-1.925e+00;SOR=0.836	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1132	20	0	1	0
chr10	133238077	133238077	C	T	exonic	VENTX	.	nonsynonymous SNV	VENTX:NM_014468:exon1:c.C163T:p.R55W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.064	B	0.003	B	0.100	U	1.000	N	0.55	N	0.67	T	-1.020	T	0.079	T	0.042	1.285	10.20	-1.44	-0.406	-0.332	4.195	0.017	0.00658458729226	.	.	1.429e-05	0	0	0	0	0	0	8.226e-05	6.5e-06	1	154602	rs770162711	2.768e-06	6.156e-06	4.123e-06	1.393e-06	0.0004	6.5e-07	4.4e-07	6.929e-05	2.895e-05	0	0	0	0	0	0.0004	0	0	2.382e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.037	0.51737	D	0.064	0.23455	B	0.003	0.08700	B	0.100447	0.02542	U	2.218800	1	0.08975	N	0.55	0.14455	N	0.67	0.52187	T	-2.59	0.55821	D	0.092	0.07125	-1.0199	0.23747	T	0.079	0.31526	T	10	0.07006031	0.10141	T	0.006585	0.17358	T	0.017	0.02790	0.239	0.17065	0.154104182512	0.14974	0.29242501114007835	0.29155	0.207108910058	0.23151	0.395406752825	0.24428	T	0.120601	0.44295	T	-0.318233	0.07043	T	-0.694896	0.06109	T	0.0450861057932624	0.04617	T	0.577542	0.20782	T	0.06406259	0.13553	0.074304804	0.16240	0.06406259	0.13553	0.074304804	0.16240	-4.303	0.28219	T	.	.	0.085	0.10159	B	.	.	1.477175	0.19022	14.05	0.97517500879619801	0.34384	0.00927	0.03598	N	AEFBI	0.035856	0.04683	N	-1.37793126096701	0.02845	0.1262431	-1.47467305018482	0.02553	0.1176454	0.999545181369646	0.40300	0.652421	0.48094	0	0.59043	0.45803	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	1.9	-1.44	0.08391	-0.099000	0.10976	-1.833000	0.04643	-1.038000	0.01672	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1728:0.4741:0.353:0.0	4.195	0.09899	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	393.33	31	chr10	133238077	.	C	T	393.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.720e-01;DP=577;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=59.46;MQRankSum=-4.950e-01;QD=17.10;ReadPosRankSum=1.44;SOR=0.804	GT:AD:DP:GQ:PL	0/0:25,0:25:72:0,72,732	19	0	1	1
chr10	133270502	133270503	AT	-	exonic	ADAM8	.	frameshift deletion	ADAM8:NM_001164490:exon15:c.1525_1526del:p.M509Vfs*35	.	.	415	1092	15	0	0	15	0.00682128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0030	0.000798722	0.0025	0.0012	0.0008	0.0022	0.0005	0.0038	0.0023	0.0005	0.0003842	10	26028	rs375995290	0.0025	0.0025	0.0025	0.0025	0.0061	0.0024	0.0024	0.0045	0.0039	0.0011	0.0012	0.0144	0.0010	0.0006	0.0061	0.0025	0.0032	0.0007	0.0026	0.0026	0.0028	0.0023	0.0032	0.0024	0.0023	0.0029	0.0027	0.0011	0.0186	0.0023	0.0127	0.0025	0.0007	0.0102	0.0032	0.0033	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1511.94	35	chr10	133270501	.	CAT	C	1511.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.580e-01;DP=776;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.61;ReadPosRankSum=-9.720e-01;SOR=0.658	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1271	20	0	1	0
chr10	133271532	133271532	G	C	exonic	ADAM8	.	nonsynonymous SNV	ADAM8:NM_001164490:exon11:c.C1163G:p.P388R	.	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0247010166624	.	0.000199681	0.0002	0	0	0	0	0.0002	0.0072	0.0002	3.23e-05	5	154602	rs548692443	4.065e-05	3.967e-05	3.378e-05	4.771e-05	0.0008	3.177e-05	2.901e-05	0.0003	0.0002	0	0	0.0008	0	0	0.0008	7.4e-06	0.0002	0.0002	3.282e-05	3.281e-05	3.853e-05	2.685e-05	0.0004	1.26e-05	7.97e-06	7.285e-05	3.027e-05	0	0	0	0.0003	0	0	0	2.941e-05	0	0.0004	0.017	0.68238	D	0.042	0.51112	D	0.998	0.73220	D	0.98	0.74843	D	.	.	.	.	1	0.08975	N	2.395	0.69210	M	2.79	0.11189	T	-7.27	0.94404	D	0.228	0.31590	.	.	.	.	.	.	.	0.10274848	0.18850	T	0.024701	0.47687	T	.	.	.	.	0.388174495139	0.38433	0.7766237681499825	0.77612	0.579290574343	0.53809	0.457365810871	0.32950	T	0.239979	0.60821	T	-0.381666	0.03041	T	-0.521585	0.20134	T	.	.	.	0.90111	0.65732	D	0.30416456	0.53276	0.2516911	0.50784	0.30416456	0.53276	0.2516911	0.50783	-6.336	0.52141	T	.	.	0.098	0.16231	B	.;.;.	.;.;.	2.925900	0.38855	20.8	0.99808344305116981	0.89264	0.28112	0.23464	N	AEFBI	0.225972	0.34998	N	.	.	.	.	.	.	0.135437219907092	0.17172	0.631515	0.41029	0	0.697927	0.68747	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.43	4.43	0.52967	1.635000	0.36747	5.135000	0.47677	0.658000	0.54486	0.003000	0.16062	1.000000	0.68203	0.410000	0.27006	0.1062:0.0:0.8938:0.0	8.790	0.34003	994	0.00715	Disintegrin domain|Disintegrin domain|Disintegrin domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	732.98	30	chr10	133271532	.	G	C	732.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.00;DP=709;ExcessHet=0.0000;FS=4.029;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=0.303;SOR=1.329	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1114	20	0	1	0
chr10	133274164	133274164	C	A	exonic	ADAM8	.	stopgain	ADAM8:NM_001164490:exon2:c.G118T:p.E40X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.825e-06	0	0	0	0	1.7e-05	0	0	6.5e-06	1	154602	rs767036819	2.787e-06	5.472e-06	4.144e-06	1.406e-06	3.642e-06	6.5e-07	4.4e-07	8.5e-07	5.8e-07	0	0	0	0	0	0	3.642e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.91255	D	0.009	0.66756	D	1.0	0.90584	D	0.994	0.82059	D	.	.	.	.	1	0.81001	A	.	.	.	3.25	0.06762	T	-3.57	0.76740	D	0.4	0.44090	.	.	.	.	.	.	.	0.8232759	0.81519	D	.	.	.	.	.	.	.	0.730100223331	0.72770	0.8286708007495739	0.82825	0.597393025624	0.54938	0.715688109398	0.69418	T	0.300441	0.67293	T	0.420644	0.91054	D	0.36645	0.90942	D	.	.	.	0.730627	0.40183	T	0.7776895	0.82512	0.58422995	0.75892	0.7776895	0.82513	0.58422995	0.75893	-16.715	0.98873	D	.	.	0.929	0.89154	P	.;.;.	.;.;.	4.043198	0.59869	24.2	0.99643807273593654	0.76819	0.94592	0.61669	D	AEFB	0.735891	0.68157	D	.	.	.	.	.	.	0.999989529285559	0.51787	0.700653	0.57754	0	0.672317	0.65289	0	0.717052	0.78885	0	0.562822	0.20929	0	.	.	3.92	3.01	0.33872	1.701000	0.37444	0.544000	0.19360	0.535000	0.24933	0.997000	0.40164	0.997000	0.33255	0.318000	0.24924	0.0:0.8921:0.0:0.1079	9.300	0.37003	994	0.00715	Peptidase M12B, propeptide;.;Peptidase M12B, propeptide	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	977.98	36	chr10	133274164	.	C	A	977.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.323e+00;DP=824;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.58;ReadPosRankSum=0.260;SOR=0.598	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr10	133282252	133282252	C	T	exonic	TUBGCP2	.	nonsynonymous SNV	TUBGCP2:NM_001256618:exon15:c.G1990A:p.E664K	.	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.072	B	0.02	B	0.000	D	0.565	D	1.87	L	2.53	T	-1.009	T	0.058	T	0.255	1.517	11.02	3.11	0.806	3.448	7.972	0.075	0.0107161038949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.852e-07	6.84e-07	1.363e-06	0	2.99e-05	0	0	.	.	2.99e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.46129	D	0.217	0.43159	T	0.072	0.23997	B	0.02	0.19048	B	0.000062	0.52346	D	0.125321	0.564551	0.32241	D	2.295	0.65404	M	2.51	0.30401	T	-0.7	0.21215	N	0.315	0.37613	-1.0092	0.27167	T	0.058	0.24242	T	10	0.14590284	0.27669	T	0.010716	0.27578	T	0.075	0.21907	0.454	0.51775	0.297031009988	0.29315	0.4061514467311737	0.40531	0.384708731815	0.39768	0.413392364979	0.26926	T	0.109448	0.42332	T	-0.157393	0.27162	T	-0.463861	0.26179	T	0.536994218826294	0.33993	D	0.838016	0.51512	T	0.09572264	0.22533	0.106070936	0.25511	0.09572264	0.22532	0.106070936	0.25511	-8.632	0.65765	D	.	.	0.090	0.27373	B	.;.;.;.;.	.;.;.;.;.	2.947631	0.39208	20.9	0.99106415143315296	0.52597	0.76186	0.37346	D	AEFBI	0.119089	0.23259	N	-0.543465446233285	0.20689	1.092503	-0.505914417267261	0.21991	1.192352	0.0166404204883469	0.12854	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.98	3.11	0.34883	3.657000	0.54214	4.664000	0.44250	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.028000	0.12845	0.0:0.7518:0.1616:0.0866	7.972	0.29293	993	0.01300	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1291.08	39	chr10	133282252	.	C	T	1291.08	.	AC=2;AF=0.048;AN=42;DP=757;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.74;SOR=1.127	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1224	20	1	0	0
chr10	133285526	133285526	C	T	exonic	TUBGCP2	.	nonsynonymous SNV	TUBGCP2:NM_001256618:exon11:c.G1435A:p.A479T	.	.	428	1090	4	0	0	4	0.0018315	.	.	1327025	not_provided|not_specified|TUBGCP2-related_disorder	MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.002	B	0.001	N	0.999	N	0.69	N	3.05	T	-0.930	T	0.012	T	0.05	0.640	7.440	1.87	-0.099	0.436	4.003	0.042	0.0222791527092	0.0022	0.000199681	0.0018	0.0003	0.0005	0	0.0012	0.0030	0.0025	7.329e-05	0.0018434	285	154602	rs142228780	0.0029	0.0029	0.0030	0.0028	0.0035	0.0028	0.0028	0.0034	0.0034	0.0002	0.0008	3.86e-05	0	0.0027	0.0014	0.0035	0.0024	4.664e-05	0.0019	0.0019	0.0020	0.0018	0.0034	0.0017	0.0017	0.0031	0.0029	0.0004	0.0011	0.0006	0	0	0.0024	0	0.0034	0.0024	0	1.0	0.04443	T	0.76	0.07666	T	0.0	0.02946	B	0.002	0.06944	B	0.000695	0.42383	N	0.242256	0.999457	0.21167	N	0.295	0.10161	N	3.05	0.08721	T	0.74	0.02038	N	0.19	0.25499	-0.9297	0.44183	T	0.012	0.04558	T	10	0.011584461	0.00253	T	0.022279	0.45152	T	0.042	0.11227	.	.	0.178374595973	0.17440	0.10699216563095175	0.10629	0.275970821921	0.30079	0.579298317432	0.49987	T	0.049268	0.28258	T	-0.686392	0.00044	T	-0.757503	0.03202	T	0.011948437973464	0.00187	T	0.517648	0.17878	T	0.015110092	0.00123	0.03312574	0.02156	0.015110092	0.00123	0.03312574	0.02156	1.887	0.00135	T	.	.	0.056	0.00754	B	.;.;.;.;.	.;.;.;.;.	0.596762	0.09652	6.424	0.89860791531239614	0.19166	0.50218	0.28612	D	AEFDGBI	0.081225	0.16433	N	-0.960441342184689	0.09459	0.447799	-0.805841152314234	0.14354	0.7495741	3.88220892101444E-4	0.06781	0.719381	0.83141	0	0.723133	0.82719	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.64	1.87	0.24559	0.469000	0.21779	1.236000	0.25075	-0.783000	0.03311	1.000000	0.71638	1.000000	0.68203	0.571000	0.30675	0.3768:0.1373:0.0:0.4858	4.003	0.09078	993	0.01300	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1472.98	34	chr10	133285526	.	C	T	1472.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.212e+00;DP=806;ExcessHet=0.0000;FS=3.788;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.16;ReadPosRankSum=0.348;SOR=0.389	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1228	20	0	1	0
chr10	133285549	133285549	G	A	exonic	TUBGCP2	.	nonsynonymous SNV	TUBGCP2:NM_001256618:exon11:c.C1412T:p.A471V	.	.	.	.	.	.	.	.	.	.	.	2806326	not_provided|TUBGCP2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.29	T	0.003	B	0.002	B	0.005	N	0.847	N	1.195	L	3.16	T	-1.033	T	0.017	T	0.104	0.599	7.228	4.62	1.315	7.068	4.193	0.093	0.00488816747836	0.0015	0.000599042	0.0013	0.0002	0.0016	0	0.0004	0.0019	0.0027	0	0.0011707	181	154602	rs151132456	0.0015	0.0015	0.0015	0.0015	0.0020	0.0014	0.0014	0.0017	0.0017	0.0004	0.0013	0.0011	2.55e-05	0.0002	0.0020	0.0018	0.0012	0.0001	0.0011	0.0011	0.0012	0.0011	0.0020	0.0010	0.0009	0.0017	0.0016	0.0003	0	0.0009	0.0009	0.0002	0	0	0.0020	0.0019	0.0002	0.288	0.15098	T	0.58	0.08505	T	0.0	0.02946	B	0.002	0.06944	B	0.005351	0.32875	N	0.317642	0.847189	0.28548	N	0.77	0.19370	N	3.16	0.07711	T	-0.54	0.16598	N	0.148	0.16725	-1.0331	0.19459	T	0.017	0.06902	T	10	0.0070544183	0.00160	T	0.004888	0.12286	T	0.093	0.26882	.	.	0.350746614512	0.34690	0.1273686833401027	0.12662	0.283872200585	0.30823	0.384883344173	0.22947	T	0.061442	0.31654	T	-0.588928	0.00170	T	-0.624278	0.10853	T	0.0345132128438498	0.02725	T	0.817118	0.47476	T	0.019753672	0.00512	0.027829662	0.00966	0.019753672	0.00512	0.027829662	0.00966	-3.807	0.21988	T	.	.	0.064	0.02670	B	.;.;.;.;.	.;.;.;.;.	2.050683	0.26070	16.99	0.38200669053738129	0.02562	0.81415	0.40823	D	AEFGBI	0.103555	0.20744	N	-0.190125555571483	0.33543	1.904297	-0.0603988487977531	0.37045	2.163705	0.942386082329209	0.27520	0.719381	0.83141	0	0.723133	0.82719	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.64	4.62	0.56946	7.174000	0.77176	4.162000	0.42217	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.331000	0.25224	0.7657:0.0:0.2343:0.0	4.193	0.09888	993	0.01300	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1686.98	34	chr10	133285549	.	G	A	1686.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.590e-01;DP=852;ExcessHet=0.0000;FS=1.294;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=0.318;SOR=0.675	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1228	20	0	1	0
chr10	133289956	133289956	C	T	exonic	TUBGCP2	.	nonsynonymous SNV	TUBGCP2:NM_001256618:exon8:c.G838A:p.E280K	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.98	D	0.786	P	0.000	D	1.000	D	0.6	N	3.23	T	-0.995	T	0.162	T	0.938	4.348	22.9	5.64	2.832	7.503	18.667	0.334	0.0100688897832	0.0002	0.000599042	0.0001	9.621e-05	0	0	0	0.0002	0.0011	0.0003	0.0001358	21	154602	rs200445961	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0005	0.0004	5.975e-05	0.0001	0.0007	0	0	0.0010	0.0001	0.0002	0.0006	0.0001	0.0001	0.0001	0.0001	0.0012	9.141e-05	7.697e-05	0.0005	0.0004	0	0	6.533e-05	0.0006	0	0	0	0.0002	0.0005	0.0012	0.08	0.36912	T	0.053	0.59159	T	0.98	0.59353	D	0.786	0.57542	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.38	0.34346	L	3.23	0.57100	T	-2.55	0.55181	D	0.906	0.90704	-0.9947	0.31379	T	0.162	0.49748	T	10	0.38616654	0.54556	T	0.010069	0.26169	T	0.334	0.65620	.	.	0.643721901085	0.64077	0.7027686224115378	0.70217	0.995167280949	0.74201	0.789097189903	0.80306	T	0.18575	0.53882	T	0.0454057	0.57750	T	0.163705	0.81031	D	0.203218772901191	0.20592	T	0.966503	0.87759	D	0.41093892	0.61482	0.30232495	0.56265	0.41093892	0.61483	0.30232495	0.56264	-8.937	0.69178	D	.	.	0.188	0.71269	B	.;.;.;.;.	.;.;.;.;.	4.826054	0.78650	26.9	0.99897863570283596	0.97048	0.98121	0.79777	D	AEFBI	0.881140	0.80829	D	0.285595759795689	0.55418	3.705861	0.349027342104143	0.58447	4.015427	0.999999999589929	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	7.676000	0.83341	7.456000	0.59008	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.157000	0.20547	0.0:1.0:0.0:0.0	18.667	0.91452	989	0.01410	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1826.98	35	chr10	133289956	.	C	T	1826.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.524;DP=926;ExcessHet=0.0000;FS=0.651;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.16;ReadPosRankSum=-3.370e-01;SOR=0.760	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	20	0	1	0
chr10	133381498	133381498	T	G	exonic	PAOX	.	nonsynonymous SNV	PAOX:NM_152911:exon3:c.T707G:p.L236R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.997	D	0.001	D	1.000	D	2.73	M	-3.22	D	0.942	D	0.883	D	0.746	2.251	13.48	4.76	2.002	7.222	10.574	0.860	0.798944824651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000708	0.42254	D	0.156795	0.993884	0.81001	D	.	.	.	-3.22	0.93352	D	-4.77	0.81835	D	0.735	0.79310	0.942	0.96269	D	0.883	0.96119	D	10	0.9910426	0.99622	D	0.798945	0.98426	D	0.860	0.95728	0.901	0.97816	0.878768801948	0.87758	0.9278711911418758	0.92765	0.917811076885	0.71316	0.511783480644	0.40472	T	.	.	.	0.338753	0.85754	D	0.248819	0.85567	D	0.994167447090149	0.85300	D	0.745725	0.36599	T	.	.	.	.	.	.	.	.	-15.637	0.97166	D	.	.	0.768	0.75833	P	.;.;.	.;.;.	4.275675	0.65092	24.8	0.99720663983754187	0.82054	0.98469	0.83105	D	AEFDBIJ	0.786796	0.71677	D	0.623813870998585	0.74683	6.174592	0.509903470574245	0.68653	5.250149	0.999994740387877	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.76	4.76	0.60189	5.596000	0.67261	7.730000	0.67710	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.022000	0.11911	0.0:0.0:0.0:1.0	10.574	0.44406	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1847.98	39	chr10	133381498	.	T	G	1847.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.002e+00;DP=954;ExcessHet=0.0000;FS=1.907;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=0.618;SOR=0.887	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr10	133533792	133533792	G	A	exonic	CYP2E1	.	nonsynonymous SNV	CYP2E1:NM_000773:exon6:c.G862A:p.G288S,	.	.	417	1099	6	0	0	6	0.00272232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.976	D	0.765	P	0.007	N	1.000	N	-0.375	N	-0.27	T	-0.930	T	0.158	T	0.2	1.405	10.63	1.35	0.242	2.780	6.674	0.168	.	.	0.00379393	0.0028	0	0.0003	0.0001	0	1.499e-05	0.0055	0.0202	0.0024385	377	154602	rs61710826	0.0013	0.0013	0.0008	0.0018	0.0203	0.0012	0.0012	0.0195	0.0192	0	0	0	7.557e-05	0	0.0003	2.968e-05	0.0018	0.0203	0.0007	0.0007	0.0003	0.0011	0.0207	0.0006	0.0005	0.0174	0.0162	0	0	0	0	0	0	0	1.47e-05	0.0009	0.0207	0.105	0.30375	T	0.062	0.45318	T	0.945	0.53279	P	0.613	0.51171	P	0.006757	0.31824	N	0.386253	1	0.08975	N	-0.175	0.04276	N	-0.27	0.67367	T	1.05	0.01488	N	0.054	0.02559	-0.9304	0.44080	T	0.158	0.49027	T	10	0.0065504014	0.00148	T	.	.	.	0.168	0.42943	0.608	0.74063	0.641048165634	0.63808	0.1800232113540086	0.17921	0.369890665842	0.38515	0.394802570343	0.24343	T	0.03004	0.21388	T	-0.506787	0.00523	T	-0.485145	0.23901	T	0.0342855437364483	0.02686	T	0.694731	0.30434	T	0.0960666	0.22621	0.056927457	0.10258	0.0960666	0.22621	0.056927457	0.10257	-1.309	0.01416	T	.	.	0.117	0.23848	B	.;.;.;.	.;.;.;.	0.785912	0.11562	8.156	0.83700415288107233	0.14871	0.00089	0.00592	N	AEFDBI	0.283815	0.39683	N	-0.711938346470966	0.15686	0.7926656	-0.835004165390488	0.13647	0.7091577	0.0191091762678123	0.13129	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	3.96	1.35	0.21078	0.584000	0.23565	4.429000	0.43344	-0.279000	0.06446	0.000000	0.06391	0.467000	0.25033	0.001000	0.02609	0.7393:0.0:0.2607:0.0	6.674	0.22275	994	0.00715	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2303.98	35	chr10	133533792	.	G	A	2303.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.580;DP=874;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.88;ReadPosRankSum=-7.880e-01;SOR=0.689	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1247	20	0	1	0
chr11	197698	197698	C	T	exonic	ODF3	.	nonsynonymous SNV	ODF3:NM_001286136:exon3:c.C247T:p.L83F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.944	P	0.451	P	0.001	D	1.000	N	0.69	N	1.57	T	-1.045	T	0.016	T	0.092	0.493	6.677	0.84	0.467	0.060	9.464	0.050	.	0.0114	0.00698882	0.0029	0.0323	0.0007	0	0	4.53e-05	0	0	0.0026908	416	154602	rs116532705	0.0010	0.0010	0.0012	0.0008	0.0359	0.0009	0.0009	0.0342	0.0335	0.0359	0.0017	0	0	0	0.0009	3.058e-05	0.0021	4.637e-05	0.0094	0.0094	0.0094	0.0093	0.0328	0.0089	0.0088	0.0313	0.0307	0.0328	0	0.0031	0	0	0	0.0034	8.821e-05	0.0043	0	0.045	0.40832	D	0.141	0.42261	T	0.884	0.48618	P	0.361	0.43233	B	0.000968	0.40836	D	0.000000	1	0.81001	D	0	0.06538	N	1.57	0.29866	T	0.27	0.05810	N	0.29	0.38232	-1.0450	0.15825	T	0.016	0.06425	T	10	0.002168566	0.00031	T	.	.	.	0.050	0.13987	.	.	0.082315109003	0.07666	0.43451691335042025	0.43368	0.249293676773	0.27503	0.28443646431	0.08119	T	0.003813	0.03222	T	-0.604174	0.00138	T	-0.615563	0.11537	T	0.0441919692538189	0.04455	T	0.719828	0.35329	T	0.13281366	0.30913	0.12940218	0.31114	0.13281366	0.30912	0.12940218	0.31113	-6.334	0.48991	T	.	.	0.086	0.10691	B	.;.	.;.	1.310792	0.17138	12.98	0.93976629099858378	0.24054	0.15029	0.18709	N	AEFBHCI	0.107131	0.21354	N	-0.428130816218397	0.24488	1.322547	-0.45603280450359	0.23377	1.274572	0.7508515795539	0.23358	0.403107	0.06075	0	0.514364	0.08380	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.14	0.84	0.18047	-0.884000	0.04273	0.068000	0.14222	0.524000	0.24156	0.000000	0.06391	0.197000	0.23541	0.957000	0.51019	0.56:0.44:0.0:0.0	9.464	0.37965	779	0.47767	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1697.98	39	chr11	197698	.	C	T	1697.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.020e-01;DP=971;ExcessHet=0.0000;FS=0.607;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=2.27;SOR=0.618	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr11	198573	198573	C	A	exonic	ODF3	.	nonsynonymous SNV	ODF3:NM_001286136:exon5:c.C522A:p.D174E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.004	B	0.030	N	1.000	D	0.41	N	1.69	T	-0.950	T	0.023	T	0.103	-0.250	2.799	-6.33	-0.984	-3.047	3.011	0.014	0.00820597343335	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.004	0.12183	B	0.002	0.06944	B	0.030044	0.25365	N	0.268101	1	0.81001	D	0.155	0.08919	N	1.64	0.27822	T	1.74	0.00668	N	0.133	0.17278	-0.9502	0.40938	T	0.023	0.09696	T	10	0.052762896	0.05362	T	0.008206	0.21750	T	0.014	0.01968	0.286	0.24440	0.151262610727	0.14761	0.1927745557994467	0.19195	0.143935191747	0.16256	0.567253410816	0.48289	T	0.002603	0.01994	T	-0.305906	0.08114	T	-0.677189	0.07156	T	0.0599600215336194	0.07163	T	0.718928	0.33194	T	0.04284979	0.06573	0.0465013	0.06495	0.04284979	0.06573	0.0465013	0.06494	0.44	0.13789	T	.	.	0.105	0.19398	B	.;.;.	.;.;.	-1.773936	0.00166	0.002	0.86846420735291274	0.16812	0.07176	0.13201	N	AEFDBCI	0.102347	0.20533	N	-1.41439385619823	0.02512	0.1110182	-1.37003330218625	0.03575	0.1670495	0.986813936713101	0.31130	0.421363	0.06395	0	0.550933	0.16991	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.72	-6.33	0.01814	-4.842000	0.00209	-13.748000	0.00441	-1.929000	0.00500	0.000000	0.06391	0.000000	0.08366	0.447000	0.27828	0.1224:0.2359:0.1207:0.5209	3.011	0.05678	779	0.47767	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	484.98	29	chr11	198573	.	C	A	484.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.35;DP=692;ExcessHet=0.0000;FS=2.756;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=0.480;SOR=1.244	GT:AD:DP:GQ:PL	0/0:27,0:27:72:0,72,1080	20	0	1	0
chr11	211350	211350	G	T	splicing	RIC8A	NM_021932:exon5:c.969+1G>T;NM_001286134:exon5:c.969+1G>T	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.93	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.204	21.8	4.16	2.264	9.778	16.311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.415377	0.90776	D	0.358884	0.90661	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	6.541481	0.95375	34	0.9950344817864466	0.68147	0.99734	0.99061	D	AEFBI	.	.	.	1.14457212292051	0.98877	19.71724	0.963275375878648	0.97782	16.75588	0.999999999999858	0.74766	0.12324	0.03125	0	0.177374	0.04040	0	0.12342	0.03364	0	0.119812	0.03901	0	0.985242	0.92850	4.16	4.16	0.48138	9.994000	0.99266	11.189000	0.88595	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	16.311	0.82699	774	0.48577	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1313.98	34	chr11	211350	.	G	T	1313.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=803;ExcessHet=0.0000;FS=2.692;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.76;ReadPosRankSum=-6.270e-01;SOR=1.059	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1236	20	0	1	0
chr11	212631	212631	G	A	exonic	RIC8A	.	nonsynonymous SNV	RIC8A:NM_001286134:exon7:c.G1082A:p.R361Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	1.0	D	0.981	D	0.000	D	1.000	D	2.14	M	0.8	T	-0.681	T	0.253	T	0.159	4.234	22.0	3.52	1.187	4.525	12.038	0.116	0.0623295392528	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs1002508648	2.052e-06	2.052e-06	0	4.126e-06	0.0003	5.5e-07	1.5e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	0	0	6.569e-06	6.566e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.004	0.68238	D	0.011	0.64786	D	1.0	0.90584	D	0.981	0.75168	D	0.000000	0.84330	D	0.000000	0.999787	0.81001	D	2.47	0.71715	M	0.8	0.48769	T	-2.6	0.55983	D	0.467	0.50327	-0.6808	0.61335	T	0.253	0.62326	T	10	0.74409825	0.75164	D	0.06233	0.68619	D	0.265	0.57870	0.815	0.92992	0.907343320923	0.90641	0.37993848919578344	0.37908	0.945086365599	0.72381	0.474943637848	0.35362	T	0.258915	0.63012	T	-0.114302	0.34059	T	-0.401963	0.33156	T	0.967301845550537	0.67865	D	0.916508	0.81304	D	0.36117473	0.57925	0.24604763	0.50105	0.36117473	0.57926	0.24604763	0.50104	-6.782	0.55165	T	.	.	0.101	0.26669	B	.;.;.	.;.;.	6.997573	0.96014	35	0.99951506895875808	0.99944	0.89086	0.49344	D	AEFDBCI	0.423442	0.48902	N	0.485524463137892	0.66244	4.925217	0.418432426491022	0.62713	4.491487	0.990226010137647	0.32081	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.43	3.52	0.39415	4.666000	0.61248	6.951000	0.57024	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.873000	0.41610	0.0864:0.0:0.9135:0.0	12.038	0.52733	774	0.48577	Synembryn;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1490.98	127	chr11	212631	.	G	A	1490.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.627;DP=851;ExcessHet=0.0000;FS=3.202;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.74;ReadPosRankSum=0.275;SOR=0.897	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1178	20	0	1	0
chr11	230474	230474	G	T	exonic	SIRT3	.	nonsynonymous SNV	SIRT3:NM_001370312:exon3:c.C593A:p.P198H	.	.	420	1092	9	1	0	11	0.00501139	.	.	712769	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.09	T	0.979	D	0.838	P	0.065	N	1.000	N	1.62	L	1.0	T	-1.007	T	0.109	T	0.467	2.087	12.93	2.06	0.545	1.660	9.247	0.161	.	0.0105	0.0091853	0.0061	0.0240	0.0071	0	0.0002	0.0051	0.0107	0.0022	0.0059702	923	154602	rs61748606	0.0055	0.0055	0.0056	0.0055	0.0205	0.0054	0.0054	0.0192	0.0186	0.0205	0.0081	0.0012	0	0.0005	0.0167	0.0056	0.0071	0.0019	0.0098	0.0098	0.0103	0.0094	0.0230	0.0094	0.0093	0.0218	0.0213	0.0230	0	0.0082	0.0012	0	0.0002	0.0102	0.0055	0.0118	0.0023	0.022	0.61437	D	0.064	0.56192	T	0.979	0.59044	D	0.736	0.60045	P	0.064507	0.02178	N	1.908390	1	0.08975	N	1.12	0.28775	L	1.0	0.41392	T	-2.05	0.54546	N	0.209	0.29659	-1.0071	0.27819	T	0.109	0.39462	T	10	0.0055104196	0.00122	T	.	.	.	0.161	0.41658	.	.	0.497741790239	0.49410	0.46620834644221054	0.46539	0.304552870567	0.32758	0.236016750336	0.02443	T	0.116518	0.43592	T	-0.43035	0.01475	T	-0.37202	0.36652	T	0.0303873094741516	0.02049	T	0.841716	0.54988	T	0.17512874	0.38354	0.15006863	0.35407	0.17512874	0.38354	0.15006863	0.35406	-5.407	0.40987	T	.	.	0.098	0.20352	B	.;.;.;.;.	.;.;.;.;.	3.278097	0.44906	22.0	0.99035522111742103	0.50895	0.13440	0.17857	N	AEFBI	0.123716	0.23945	N	-0.154555400701323	0.35041	2.007767	-0.323520100368941	0.27341	1.516446	0.67757721930716	0.22442	0.736574	0.97449	0	0.633656	0.55848	0	0.732669	0.93749	0	0.635551	0.53088	0	.	.	5.31	2.06	0.25932	1.695000	0.37381	4.667000	0.44262	0.676000	0.76740	0.105000	0.22895	0.945000	0.28875	0.316000	0.24877	0.0:0.1215:0.5023:0.3762	9.247	0.36695	774	0.48577	Sirtuin family, catalytic core domain;Sirtuin family, catalytic core domain;Sirtuin family, catalytic core domain;Sirtuin family, catalytic core domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1984.98	33	chr11	230474	.	G	T	1984.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.702;DP=915;ExcessHet=0.0000;FS=1.181;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=1.47;SOR=0.796	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr11	248783	248783	G	C	exonic	PSMD13	.	nonsynonymous SNV	PSMD13:NM_175932:exon6:c.G582C:p.E194D	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.096	B	0.081	B	0.000	D	0.999	D	2.06	M	2.09	T	-0.811	T	0.220	T	0.66	2.995	15.99	2.34	0.772	2.662	5.202	0.065	0.0111761990492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.43393	T	0.278	0.31527	T	0.003	0.15093	B	0.081	0.28987	B	0.000000	0.84330	D	0.045450	0.999294	0.46578	D	1.915	0.51223	L	2.07	0.20664	T	-2.18	0.51319	N	0.324	0.39153	-0.8114	0.54466	T	0.220	0.58279	T	10	0.32130337	0.49495	T	0.011176	0.28538	T	0.132	0.35948	0.357	0.35897	0.673476700173	0.67071	0.6418035505197147	0.64115	0.357799759759	0.37491	0.683988213539	0.64842	T	0.029969	0.26718	T	-0.0339512	0.46840	T	-0.286545	0.46130	T	0.710028171539307	0.41202	D	0.868313	0.57379	D	0.20797004	0.43018	0.13164109	0.31606	0.20797004	0.43018	0.13164109	0.31605	-6.617	0.51183	T	.	.	0.197	0.48008	B	.;.;.;.;.	.;.;.;.;.	2.384894	0.30617	18.49	0.99364640033719087	0.61155	0.96196	0.67976	D	AEFBI	0.816107	0.73792	D	0.170272352700551	0.49775	3.174203	0.188259302347225	0.49202	3.126371	0.299888360730187	0.19178	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.741806	0.99463	0	.	.	5.45	2.34	0.28071	2.736000	0.47058	1.757000	0.28522	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2506:0.1504:0.599:0.0	5.202	0.14593	798	0.45050	Proteasome component (PCI) domain;.;Proteasome component (PCI) domain;Proteasome component (PCI) domain;Proteasome component (PCI) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1331.98	33	chr11	248783	.	G	C	1331.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.199e+00;DP=819;ExcessHet=0.0000;FS=1.518;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=0.022;SOR=0.522	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	20	0	1	0
chr11	376520	376520	C	A	exonic	B4GALNT4	.	nonsynonymous SNV	B4GALNT4:NM_178537:exon14:c.C1397A:p.A466D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.151	B	0.08	B	0.099	N	1.000	N	0.895	L	3.46	T	-0.930	T	0.018	T	0.464	-0.104	3.488	1.33	0.212	0.292	10.517	0.137	0.126044801279	.	0.000199681	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs566849763	3.613e-05	3.831e-05	3.703e-05	3.521e-05	0.0002	2.799e-05	2.475e-05	0.0001	8.501e-05	0	3.641e-05	0	0	0	0	2.275e-05	0.0002	0.0002	3.307e-05	3.284e-05	1.293e-05	5.415e-05	0.0001	1.267e-05	8.03e-06	2.268e-05	9.1e-06	2.422e-05	0	0.0001	0	0	0	0	2.961e-05	0	0	0.228	0.18434	T	0.569	0.08839	T	0.151	0.28027	B	0.08	0.28873	B	0.099219	0.02531	N	1.944250	1	0.08975	N	1.95	0.52479	M	3.46	0.05249	T	-0.08	0.08187	N	0.155	0.16028	-0.9305	0.44066	T	0.018	0.07234	T	10	0.08076897	0.13146	T	0.126045	0.80765	D	0.137	0.36984	0.167	0.07186	0.349806870941	0.34587	0.4594398692324601	0.45861	1.42165420262	0.85624	0.702835202217	0.67554	T	0.001396	0.00857	T	-0.362476	0.03992	T	-0.521779	0.20114	T	0.0952449962496758	0.11825	T	0.278972	0.04839	T	0.09086021	0.21275	0.09557061	0.22673	0.09086021	0.21274	0.09557061	0.22672	-5.621	0.42984	T	.	.	0.121	0.25100	B	.	.	0.699298	0.10679	7.376	0.53076682668698971	0.04869	0.10442	0.15948	N	AEFDI	0.042930	0.06722	N	-1.36685466636968	0.02954	0.1312308	-1.40689915186833	0.03182	0.1479358	0.0211518523586542	0.13324	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	3.31	1.33	0.20958	-0.045000	0.11957	-0.235000	0.10642	-0.554000	0.04884	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7973:0.0:0.2027	10.517	0.44081	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	408.98	26	chr11	376520	.	C	A	408.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.040e-01;DP=594;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=-1.395e+00;SOR=0.848	GT:AD:DP:GQ:PL	0/0:26,0:26:60:0,60,900	20	0	1	0
chr11	379932	379932	G	A	exonic	B4GALNT4	.	nonsynonymous SNV	B4GALNT4:NM_178537:exon16:c.G2555A:p.G852E,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.89	P	0.722	P	0.037	N	0.735	N	2.015	M	1.33	T	-0.925	T	0.129	T	0.284	2.777	15.25	3.73	2.073	3.990	7.172	0.093	0.0856462915824	0.0015	0.000599042	0.0012	0.0006	0.0006	0	0.0005	0.0017	0.0012	0.0012	0.0012678	196	154602	rs142417965	0.0017	0.0017	0.0017	0.0017	0.0026	0.0017	0.0016	0.0020	0.0019	0.0005	0.0007	7.667e-05	0	0.0003	0.0026	0.0020	0.0012	0.0012	0.0012	0.0012	0.0012	0.0011	0.0020	0.0010	0.0010	0.0017	0.0016	0.0003	0.0033	0.0008	0	0.0002	0.0002	0	0.0020	0.0014	0.0010	0.073	0.34800	T	0.094	0.39645	T	0.89	0.48942	P	0.722	0.54942	P	0.036798	0.24479	N	0.441217	0.735319	0.29789	N	2.375	0.68372	M	1.33	0.35031	T	-2.75	0.58407	D	0.44	0.47857	-0.9254	0.44801	T	0.129	0.43828	T	10	0.033746183	0.01560	T	0.085646	0.74576	D	0.093	0.26882	.	.	0.20808081866	0.20439	0.6298822414055181	0.62922	1.24987049093	0.81773	0.589207470417	0.51382	T	0.00883	0.08077	T	-0.444658	0.01214	T	-0.417973	0.31308	T	0.0418535294757889	0.04028	T	0.841416	0.51702	T	0.15560213	0.35159	0.2009445	0.44051	0.15560213	0.35158	0.2009445	0.44050	-11.355	0.81569	D	.	.	0.202	0.42621	B	.	.	3.884587	0.56480	23.7	0.99664533905987396	0.78138	0.69370	0.34161	D	AEFDBI	0.154599	0.27965	N	0.318976080660332	0.57122	3.878532	0.252621611609784	0.52797	3.452292	0.414651901236141	0.20242	0.695654	0.57023	0	0.626922	0.53725	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.73	3.73	0.41982	4.120000	0.57646	8.276000	0.76896	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.164000	0.20782	0.2586:0.0:0.7414:0.0	7.172	0.24899	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1515.98	39	chr11	379932	.	G	A	1515.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.280;DP=956;ExcessHet=0.0000;FS=0.726;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.66;ReadPosRankSum=-4.600e-01;SOR=0.578	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr11	380881	380881	C	G	exonic	B4GALNT4	.	nonsynonymous SNV	B4GALNT4:NM_178537:exon19:c.C2926G:p.R976G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.657	P	0.54	P	0.000	D	0.713	N	2.47	M	1.26	T	-0.781	T	0.150	T	0.403	2.817	15.38	2.83	0.895	1.953	11.146	0.172	0.0905708000471	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1163396980	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.577e-06	6.567e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.003	0.68238	D	0.003	0.76473	D	0.657	0.40850	P	0.54	0.48825	P	0.000009	0.62929	D	0.060791	0.713344	0.29992	N	2.765	0.80766	M	1.26	0.36330	T	-5.28	0.84246	D	0.623	0.63798	-0.7813	0.56229	T	0.150	0.47663	T	10	0.6654271	0.70398	D	0.090571	0.75543	D	0.172	0.43662	0.542	0.65446	0.123314135267	0.11883	0.8783128598904932	0.87798	1.24029481658	0.81551	0.439969658852	0.30573	T	0.026077	0.19371	T	-0.0666621	0.41858	T	-0.333532	0.41074	T	0.992069244384766	0.82458	D	0.955704	0.83186	D	0.7481455	0.80760	0.5833941	0.75845	0.7481455	0.80762	0.5833941	0.75846	-11.288	0.81214	D	.	.	0.245	0.47965	B	.	.	4.239484	0.64268	24.7	0.99484432361464403	0.67069	0.82494	0.41713	D	AEFDI	0.423080	0.48881	N	0.0566555947260758	0.44448	2.718773	-0.0340567135951091	0.38188	2.246314	0.53137549368043	0.21178	0.718356	0.82227	0	0.626922	0.53725	0	0.570548	0.19454	0	0.699875	0.68795	0	.	.	3.76	2.83	0.32150	2.031000	0.40737	1.662000	0.27905	0.524000	0.24156	0.998000	0.41325	1.000000	0.68203	0.972000	0.54974	0.332:0.668:0.0:0.0	11.146	0.47652	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2074.98	46	chr11	380881	.	C	G	2074.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.690e-01;DP=938;ExcessHet=0.0000;FS=0.579;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=-4.690e-01;SOR=0.641	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr11	400024	400024	C	T	exonic	PKP3	.	nonsynonymous SNV	PKP3:NM_007183:exon6:c.C1331T:p.T444M	.	.	423	1079	19	1	0	21	0.00963745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.925	D	0.000	U	0.998	D	1.59	L	0.78	T	-0.683	T	0.136	T	0.567	2.891	15.63	4.19	2.061	4.460	16.942	0.243	.	0.0074	0.0071885	0.0101	0.0038	0.0096	0	0.0161	0.0125	0.0172	0.0080	0.0074061	1145	154602	rs151201080	0.0096	0.0096	0.0098	0.0095	0.0130	0.0095	0.0095	0.0104	0.0104	0.0018	0.0077	0.0041	0	0.0119	0.0130	0.0106	0.0094	0.0061	0.0074	0.0074	0.0075	0.0072	0.0109	0.0070	0.0069	0.0103	0.0100	0.0019	0.0033	0.0093	0.0055	0.0002	0.0092	0.0034	0.0109	0.0090	0.0037	0.002	0.72154	D	0.005	0.72224	D	1.0	0.90584	D	0.925	0.65999	D	0.000016	0.62929	U	0.066416	0.99842	0.44899	D	1.955	0.52871	M	0.78	0.49358	T	-2.24	0.50175	N	0.778	0.77507	-0.6833	0.61220	T	0.136	0.45164	T	10	0.009129167	0.00206	T	.	.	.	0.243	0.54921	.	.	0.727257869051	0.72483	0.5972029706985712	0.59651	0.419819143065	0.42524	0.769279301167	0.77316	T	0.258324	0.62947	T	-0.358292	0.04227	T	-0.279476	0.46858	T	0.0186109962534885	0.00575	T	0.919808	0.70989	D	0.18480209	0.39812	0.21133934	0.45558	0.18480209	0.39811	0.21133934	0.45557	-5.307	0.40012	T	.	.	0.326	0.54926	B	.	.	4.638468	0.73819	26.1	0.99898403714163153	0.97048	0.94407	0.61067	D	AEFDBI	0.476224	0.51973	N	0.438484043992529	0.63552	4.591233	0.365264395701364	0.59433	4.121001	0.974547197406394	0.29552	0.718356	0.82227	0	0.547309	0.14657	0	0.570548	0.19454	0	0.620976	0.48614	0	.	.	4.19	4.19	0.48645	2.464000	0.44724	5.758000	0.49667	0.575000	0.29119	0.977000	0.34929	1.000000	0.68203	0.864000	0.41028	0.0:1.0:0.0:0.0	16.942	0.86090	895	0.25842	.	.	.	CDHR5	Colon_Transverse	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	908.98	34	chr11	400024	.	C	T	908.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=779;ExcessHet=0.0000;FS=0.873;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.12;ReadPosRankSum=-5.830e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1201	20	0	1	0
chr11	499944	499944	G	A	exonic	RNH1	.	nonsynonymous SNV	RNH1:NM_203384:exon4:c.C328T:p.R110C	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.999	D	0.548	P	0.107	N	0.985	N	2.095	M	0.99	T	-0.964	T	0.117	T	0.422	1.129	9.603	1.12	0.327	1.596	5.141	0.117	0.103392272384	0.0049	0.00179712	0.0060	0.0020	0.0014	0	0.0082	0.0089	0.0016	0.0026	0.004366	675	154602	rs117254759	0.0066	0.0066	0.0069	0.0064	0.0078	0.0065	0.0065	0.0077	0.0076	0.0010	0.0014	0.0040	0	0.0069	0.0015	0.0078	0.0046	0.0019	0.0042	0.0042	0.0047	0.0037	0.0070	0.0039	0.0038	0.0064	0.0062	0.0013	0	0.0014	0.0037	0	0.0055	0	0.0070	0.0043	0.0017	0.074	0.78490	T	0.034	0.69154	D	0.999	0.77913	D	0.548	0.49136	P	0.106549	0.19609	N	0.423423	0.98541	0.24713	N	2.285	0.65182	M	0.99	0.54149	T	-2.52	0.77798	D	0.394	0.43803	-0.9637	0.38468	T	0.117	0.41187	T	10	0.0055663884	0.00123	T	0.103392	0.77739	D	0.117	0.32689	.	.	0.690818619429	0.68816	0.4378412686119318	0.43701	0.642168430392	0.57789	0.411553770304	0.26672	T	0.123394	0.44773	T	-0.396166	0.02453	T	-0.33516	0.40892	T	0.025197134143806	0.01298	T	0.79622	0.56114	T	0.37820172	0.59186	0.12681967	0.30538	0.37820172	0.59186	0.12681967	0.30537	-6.856	0.52974	T	.	.	0.125	0.37988	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.528874	0.32689	19.12	0.99656008721594225	0.77631	0.22819	0.21873	N	AEFBCI	0.228658	0.35229	N	-0.343048869355888	0.27528	1.511066	-0.584454568967611	0.19898	1.069654	0.731839146626737	0.23059	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	3.03	1.12	0.19700	0.072000	0.14482	1.360000	0.25874	0.506000	0.23061	0.000000	0.06391	0.001000	0.17328	0.003000	0.05239	0.2832:0.0:0.7168:0.0	5.141	0.14289	884	0.28482	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	chr11:499944	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1746.11	79	chr11	499944	.	G	A	1746.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.481;DP=863;ExcessHet=0.1072;FS=2.746;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.65;ReadPosRankSum=0.281;SOR=0.511	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1339	19	0	2	0
chr11	540740	540740	G	A	exonic	LRRC56	.	nonsynonymous SNV	LRRC56:NM_198075:exon4:c.G56A:p.R19Q,	.	.	422	1087	11	2	0	15	0.00685244	.	.	1548654	not_provided|LRRC56-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.2	T	0.018	B	0.003	B	0.955	N	1.000	N	0.35	N	2.85	T	-0.964	T	0.010	T	0.05	0.492	6.667	-5.16	-1.677	-2.896	5.482	0.011	0.00309820486243	0.0038	0.00439297	0.0025	0.0095	0.0029	0	0	0.0022	0.0026	0.0015	0.0022639	350	154602	rs144525570	0.0016	0.0016	0.0015	0.0016	0.0210	0.0015	0.0015	0.0179	0.0168	0.0097	0.0027	0.0007	2.52e-05	9.584e-05	0.0210	0.0013	0.0033	0.0011	0.0037	0.0036	0.0038	0.0035	0.0088	0.0034	0.0033	0.0081	0.0078	0.0088	0	0.0037	0.0009	0	0	0.0170	0.0015	0.0043	0.0033	0.349	0.12345	T	0.275	0.22016	T	0.018	0.17786	B	0.003	0.08700	B	0.954772	0.08263	N	0.976842	1	0.08975	N	0.515	0.13537	N	2.85	0.10578	T	-0.76	0.21215	N	0.05	0.02179	-0.9639	0.38428	T	0.010	0.03537	T	10	0.004208058	0.00084	T	0.003098	0.06726	T	0.011	0.01250	.	.	0.130388298395	0.12655	0.3675473950119055	0.36668	.	.	0.330809742212	0.15057	T	0.002713	0.02105	T	-0.733651	0.00023	T	-0.820783	0.01436	T	0.00333462895417693	0.00035	T	0.60444	0.22695	T	0.036576673	0.04525	0.036482133	0.03104	0.036576673	0.04525	0.036482133	0.03104	-3.885	0.22077	T	0.10907979318312648	0.09068	0.071	0.03887	B	.	.	-0.679974	0.01368	0.078	0.88345943016220319	0.17904	0.00723	0.03043	N	AEFDBI	0.029879	0.02902	N	-1.47638766735075	0.02018	0.0886564	-1.53266931245058	0.02097	0.09595504	0.999998525149659	0.74766	0.700653	0.57754	0	0.633656	0.55848	0	0.717052	0.78885	0	0.604944	0.38103	0	.	.	4.88	-5.16	0.02640	-2.919000	0.00761	-1.826000	0.04656	-0.733000	0.03713	0.000000	0.06391	0.000000	0.08366	0.235000	0.22869	0.5069:0.0:0.264:0.2291	5.482	0.16024	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	989.98	34	chr11	540740	.	G	A	989.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=764;ExcessHet=0.0000;FS=1.893;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.20;ReadPosRankSum=-8.130e-01;SOR=0.860	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1165	20	0	1	0
chr11	551669	551669	C	G	exonic	LRRC56	.	nonsynonymous SNV	LRRC56:NM_198075:exon10:c.C815G:p.P272R,	.	.	412	1107	3	0	0	3	0.00135318	.	.	1609504	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.58	T	0.007	B	0.004	B	0.716	N	1.000	N	0.695	N	3.13	T	-0.912	T	0.013	T	0.155	0.577	7.114	2.04	0.443	1.034	4.870	0.026	.	.	0.00119808	0.0014	0	0	0	0	0	0	0.0136	0.0011643	180	154602	rs574089705	0.0006	0.0006	0.0003	0.0008	0.0092	0.0005	0.0005	0.0087	0.0085	3.108e-05	0	0	7.61e-05	0	0	4.553e-06	0.0005	0.0092	0.0003	0.0003	0.0002	0.0004	0.0081	0.0002	0.0002	0.0061	0.0054	0	0	0	0	0	0	0	0	0.0005	0.0081	0.465	0.08609	T	0.582	0.08448	T	0.007	0.14184	B	0.004	0.10090	B	0.716045	0.09974	N	0.851925	1	0.08975	N	1.87	0.49600	L	3.13	0.08014	T	-1.48	0.36189	N	0.244	0.27554	-0.9123	0.46569	T	0.013	0.05321	T	10	0.003862083	0.00073	T	.	.	.	0.026	0.05648	0.265	0.21103	0.20549828249	0.20151	0.20999173655305994	0.20915	.	.	0.281745791435	0.07736	T	0.00315	0.02556	T	-0.611946	0.00123	T	-0.64426	0.09362	T	0.0165734877761071	0.00419	T	0.40156	0.10241	T	0.026547948	0.01727	0.047060702	0.06697	0.026547948	0.01727	0.047060702	0.06697	-3.25	0.13101	T	0.5386982818291418	0.60863	0.092	0.13456	B	.	.	1.386539	0.17989	13.48	0.69228681150674276	0.08906	0.27037	0.23164	N	AEFGBCI	0.044808	0.07256	N	-1.00058267258298	0.08591	0.4034374	-1.01233025913681	0.09514	0.4737509	0.999995920745873	0.74766	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	3.96	2.04	0.25787	0.731000	0.25726	-0.164000	0.11293	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2095:0.6776:0.0:0.1129	4.870	0.12988	906	0.23090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1033.98	35	chr11	551669	.	C	G	1033.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.780e-01;DP=844;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.99;ReadPosRankSum=-1.390e-01;SOR=0.760	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:61,0:61:99:.:.:0,120,1800	20	0	1	0
chr11	556093	556093	C	T	exonic	LMNTD2	.	nonsynonymous SNV	LMNTD2:NM_173573:exon11:c.G1280A:p.S427N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.002	B	0.008	B	0.777	N	1.000	N	0.205	N	-4.88	D	0.148	D	0.696	D	0.043	0.628	7.375	-0.264	0.365	-0.358	4.102	0.160	0.650184922288	0.0013	0.00139776	0.0018	0.0002	0.0013	0	0	0.0021	0.0043	0.0028	0.0010802	167	154602	rs201667162	0.0016	0.0016	0.0015	0.0017	0.0026	0.0016	0.0016	0.0023	0.0022	0.0003	0.0010	8.315e-05	0	0.0004	0.0002	0.0018	0.0014	0.0026	0.0013	0.0013	0.0013	0.0013	0.0024	0.0012	0.0011	0.0017	0.0016	0.0003	0	0.0024	0	0.0002	0.0005	0	0.0020	0.0014	0.0012	0.528	0.07071	T	0.553	0.09329	T	0.002	0.09854	B	0.008	0.13708	B	0.777016	0.06631	N	1.131770	1	0.08975	N	.	.	.	-4.88	0.98296	D	-1.04	0.27259	N	0.115	0.10340	0.148	0.85025	D	0.696	0.89528	D	10	0.014255136	0.00300	T	0.650185	0.97038	D	0.160	0.41473	.	.	0.377451072189	0.37352	0.06484255452358789	0.06423	0.0626823844065	0.06974	.	.	.	0.014652	0.12435	T	-0.41647	0.01802	T	-0.374998	0.36305	T	0.00242047101572341	0.00025	T	0.263374	0.04265	T	0.049777575	0.08892	0.044071954	0.05627	0.049777575	0.08891	0.044071954	0.05627	-5.909	0.45512	T	.	.	0.103	0.18331	B	.	.	0.290229	0.06665	3.167	0.93134732604377979	0.22775	0.05704	0.11626	N	AEFDBIJ	0.094535	0.19113	N	-1.35787404408953	0.03044	0.1353722	-1.3594752355028	0.03695	0.1729108	0.999941530713842	0.47345	0.660377	0.49826	0	0.694456	0.67091	0	0.64067	0.45733	0	0.620976	0.48614	0	.	.	4.07	-0.264	0.12310	-0.704000	0.05160	-0.299000	0.10130	-0.435000	0.05188	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1425:0.4831:0.2804:0.094	4.102	0.09490	912	0.21483	Lamin tail domain|Lamin tail domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1199.11	32	chr11	556093	.	C	T	1199.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.605;DP=691;ExcessHet=0.1072;FS=1.897;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.78;ReadPosRankSum=0.237;SOR=0.477	GT:AD:DP:GQ:PL	0/0:25,0:25:75:0,75,746	19	0	2	0
chr11	556924	556924	A	G	exonic	LMNTD2	.	nonsynonymous SNV	LMNTD2:NM_173573:exon8:c.T887C:p.V296A,	.	.	378	1143	1	0	0	1	0.000437254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.01	B	0.006	B	0.221	N	1.000	N	0.345	N	0.99	T	-1.063	T	0.045	T	0.145	0.671	7.594	-1.27	-0.437	0.108	0.092	0.115	0.00538949764264	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs775499674	1.867e-05	1.847e-05	2.2e-05	1.53e-05	0.0002	1.278e-05	1.096e-05	1.217e-05	1.033e-05	0	0	0	0	0	0.0002	1.895e-05	6.672e-05	1.176e-05	2.629e-05	2.627e-05	1.285e-05	4.036e-05	5.881e-05	8.14e-06	5.14e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0	0	1.0	0.00964	T	0.581	0.08476	T	0.01	0.15535	B	0.006	0.12133	B	0.221151	0.03455	N	1.900440	1	0.08975	N	.	.	.	0.99	0.41750	T	-0.24	0.10833	N	0.087	0.06454	-1.0629	0.11045	T	0.045	0.19316	T	10	0.040928185	0.02703	T	0.005389	0.13832	T	0.115	0.32236	0.118	0.02577	0.367992661779	0.36405	0.05790115443408168	0.05731	0.0791812460476	0.08904	.	.	.	0.015216	0.12804	T	-0.350972	0.04666	T	-0.659058	0.08331	T	0.032694521772357	0.02420	T	0.30297	0.05734	T	0.0282098	0.02124	0.033861488	0.02353	0.0282098	0.02124	0.033861488	0.02353	-2.48	0.05646	T	.	.	0.185	0.40114	B	.	.	0.201405	0.05860	2.302	0.40020279372681983	0.02798	0.01416	0.04782	N	AEFDBI	0.073014	0.14591	N	-1.32791663448828	0.03360	0.1499298	-1.34491917951357	0.03866	0.1812128	0.999672261168216	0.41644	0.609539	0.35627	0	0.493711	0.08144	1	0.64067	0.45733	0	0.620976	0.48614	0	.	.	4.42	-1.27	0.08863	-0.414000	0.07179	-0.223000	0.10745	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.3302:0.1622:0.1924:0.3152	0.092	0.00037	912	0.21483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	674.98	35	chr11	556924	.	A	G	674.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.680e-01;DP=845;ExcessHet=0.0000;FS=2.002;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.64;ReadPosRankSum=-1.600e-01;SOR=0.555	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1163	20	0	1	0
chr11	619769	619769	G	T	exonic	CDHR5	.	nonsynonymous SNV	CDHR5:NM_001171968:exon10:c.C1091A:p.A364E	.	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.996	D	0.844	P	.	.	1.000	N	0.805	L	2.42	T	-1.043	T	0.045	T	0.502	1.572	11.21	1.82	0.216	-0.462	5.915	0.119	0.0113219138205	.	.	8.916e-06	0	0	0	0	1.618e-05	0	0	6.5e-06	1	154602	rs775122520	3.429e-06	6.156e-06	2.73e-06	4.135e-06	3.598e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	1.99e-05	0	3.598e-06	0	0	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.332	0.15613	T	0.06	0.45961	T	0.899	0.59044	P	0.601	0.58006	P	.	.	.	.	0.999995	0.08975	N	1.995	0.54099	M	2.42	0.15376	T	-2.21	0.49684	N	0.215	0.24010	-1.0432	0.16354	T	0.045	0.19152	T	9	0.11462003	0.21570	T	0.011322	0.28825	T	0.119	0.33137	0.5	0.59147	0.0666544352282	0.05500	0.5270139910680519	0.52625	0.100311478549	0.11338	0.453848719597	0.32470	T	0.012518	0.10987	T	-0.171076	0.25072	T	-0.483516	0.24072	T	0.128290077821	0.15223	T	0.537446	0.18074	T	0.10373589	0.24519	0.20478086	0.44617	0.10373589	0.24519	0.20478086	0.44616	-11.939	0.88616	D	.	.	0.137	0.29968	B	.;.;.	.;.;.	0.327784	0.07020	3.579	0.917274378512002	0.21024	0.06785	0.12808	N	AEFBI	0.172902	0.29996	N	-0.748640849739603	0.14671	0.7327513	-0.908917418317319	0.11884	0.6081302	0.758103105956105	0.23467	0.421363	0.06395	0	0.550933	0.16991	0	0.536957	0.11973	0	0.613276	0.41899	0	.	.	3.76	1.82	0.24209	-0.661000	0.05410	-0.421000	0.09284	-3.305000	0.00097	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2649:0.0:0.7351:0.0	5.915	0.18287	929	0.16858	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1830.98	96	chr11	619769	.	G	T	1830.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.29;DP=1491;ExcessHet=0.0000;FS=3.030;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=0.519;SOR=0.965	GT:AD:DP:GQ:PL	0/0:66,0:66:99:0,120,1800	20	0	1	0
chr11	627073	627073	C	A	exonic	SCT	.	nonsynonymous SNV	SCT:NM_021920:exon1:c.G71T:p.R24M,	.	.	.	.	.	.	.	.	.	0.9992	0.978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998	D	0.926	D	.	.	1.000	N	1.935	M	0.6	T	-0.872	T	0.261	T	0.369	2.896	15.65	2.05	1.484	1.258	10.203	0.115	0.25570259963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.926	0.66095	D	.	.	.	.	0.99987	0.19925	N	2.16	0.60381	M	0.6	0.53731	T	-3.26	0.65397	D	0.4	0.44090	-0.8717	0.50401	T	0.261	0.63154	T	8	0.4095176	0.56127	T	0.255703	0.89301	D	0.115	0.32236	0.211	0.12923	0.732440012813	0.73005	0.26256778344155945	0.26169	0.280942309642	0.30564	0.927100658417	0.98815	D	0.245137	0.61438	T	-0.0599079	0.42922	T	-0.32383	0.42152	T	0.912391841411591	0.56828	D	.	.	.	0.24401537	0.47346	0.4099517	0.65270	0.24401537	0.47346	0.4099517	0.65270	-6.688	0.51720	T	.	.	0.899	0.82660	P	.	.	4.751867	0.76731	26.6	0.95755750262895922	0.27736	0.57350	0.30354	D	AEFDBI	0.172981	0.30004	N	0.116508848967698	0.47233	2.951892	-0.0765672972167919	0.36361	2.115121	0.998359227954309	0.36814	0.59774	0.34471	0	0.514364	0.08380	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	2.05	2.05	0.25860	1.507000	0.35365	3.712000	0.39559	0.415000	0.20742	0.997000	0.40164	1.000000	0.68203	0.687000	0.33748	0.0:1.0:0.0:0.0	10.203	0.42275	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	36.96	2	chr11	627073	.	C	A	36.96	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-9.670e-01;DP=47;ExcessHet=0.0000;FS=0.000;MLEAC=3;MLEAF=0.188;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:31:40,0,31	7	0	1	13
chr11	637504	637504	C	T	exonic	DRD4	.	nonsynonymous SNV	DRD4:NM_000797:exon1:c.C200T:p.T67M,	Autonomic nervous system dysfunction (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	U	1.000	D	.	.	0.86	T	-0.448	T	0.279	T	0.62	3.662	18.61	2.45	1.374	3.601	12.027	0.404	0.622396136425	.	0.000399361	0.0006	0	0	0	0	0.0001	0	0.0014	0.0001358	21	154602	rs577139102	7.107e-05	7.798e-05	4.924e-05	9.335e-05	0.0009	5.935e-05	5.533e-05	0.0007	0.0007	3.074e-05	0	0	5.367e-05	0	0	1.835e-05	8.529e-05	0.0009	5.91e-05	5.905e-05	3.855e-05	8.057e-05	0.0012	3.075e-05	2.209e-05	0.0005	0.0004	0	0	0	0	0	0	0	4.411e-05	0	0.0012	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	0.000002	0.62929	U	0.000000	0.99998	0.54805	D	.	.	.	0.86	0.46777	T	-4.5	0.78135	D	0.616	0.63204	-0.4478	0.70473	T	0.279	0.65037	T	9	0.3634107	0.52911	T	0.622396	0.96734	D	0.404	0.71714	0.627	0.76254	0.827040936642	0.82540	0.7842004260592811	0.78371	0.294285333989	0.31851	0.901848077774	0.96643	D	.	.	.	-0.273621	0.11356	T	-0.234637	0.51322	T	0.347691759876977	0.26928	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456	0.62523	A	.	.	4.726689	0.76090	26.4	0.99536144091251444	0.70212	0.91151	0.52960	D	AEFDBI	0.520378	0.54526	D	0.385319726646393	0.60625	4.253595	0.287140255914604	0.54788	3.642811	0.999999999963185	0.74766	0.766844	0.99359	0	0.627178	0.54094	0	0.851219	0.99655	0	0.554799	0.18163	0	.	.	2.45	2.45	0.28953	3.873000	0.55806	7.323000	0.58172	0.503000	0.22915	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	12.027	0.52674	929	0.16858	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1032.98	35	chr11	637504	.	C	T	1032.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=781;ExcessHet=0.0000;FS=3.881;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.11;ReadPosRankSum=0.559;SOR=0.660	GT:AD:DP:GQ:PL	0/1:50,43:93:99:1047,0,1112	20	0	1	0
chr11	640090	640090	G	0	exonic	DRD4	.	.	.	Autonomic nervous system dysfunction (3)	.	623	857	15	8	19	50	0.017765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	599.75	23	chr11	640090	.	G	C,*	599.75	.	AC=2,1;AF=0.056,0.028;AN=36;BaseQRankSum=-1.502e+00;DP=553;ExcessHet=0.3672;FS=2.997;InbreedingCoeff=0.0028;MLEAC=2,1;MLEAF=0.056,0.028;MQ=59.46;MQRankSum=0.901;QD=7.06;ReadPosRankSum=1.91;SOR=0.623	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:20,0,0:20:60:.:.:0,60,618,60,618,618	15	0	2	3
chr11	640098	640098	C	0	exonic	DRD4	.	.	.	Autonomic nervous system dysfunction (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	105.38	27	chr11	640098	.	C	CGGCCTCCCCCCGG,*	105.38	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=1.12;DP=602;ExcessHet=0.1128;FS=5.993;InbreedingCoeff=0.1624;MLEAC=1,1;MLEAF=0.025,0.025;MQ=59.13;MQRankSum=-1.396e+00;QD=1.79;ReadPosRankSum=-5.570e-01;SOR=1.134	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:25,0,0:25:69:.:.:0,69,1035,69,1035,1035	18	0	1	1
chr11	640099	640099	A	0	exonic	DRD4	.	.	.	Autonomic nervous system dysfunction (3)	.	654	794	37	18	19	92	0.0439494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	1313.13	27	chr11	640099	.	A	G,*	1313.13	.	AC=3,1;AF=0.079,0.026;AN=38;BaseQRankSum=-7.890e-01;DP=605;ExcessHet=0.7148;FS=3.595;InbreedingCoeff=-0.0112;MLEAC=3,1;MLEAF=0.079,0.026;MQ=59.62;MQRankSum=0.00;QD=13.13;ReadPosRankSum=1.12;SOR=0.861	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:25,0,0:25:69:.:.:0,69,1035,69,1035,1035	15	0	3	2
chr11	640177	640177	T	C	exonic	DRD4	.	nonsynonymous SNV	DRD4:NM_000797:exon3:c.T928C:p.C310R,	Autonomic nervous system dysfunction (3)	.	407	1112	3	0	0	3	0.0013471	.	.	3244642	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.55	T	0.005	B	0.003	B	0.092	U	1.000	N	.	.	-0.24	T	-1.073	T	0.113	T	0.162	-0.744	0.834	-2.35	-0.660	0.025	0.235	0.250	0.251679927718	.	0.000199681	0.0011	0	0	0	.	0.0005	0	0.0014	7.12e-05	11	154602	rs544091514	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	0.0001	0.0014	0.0013	6.438e-05	5.636e-05	4.009e-05	0	2.997e-05	0.0017	6.414e-05	0.0003	0.0016	0.0001	0.0001	0.0001	0.0001	0.0017	8.748e-05	7.324e-05	0.0008	0.0006	0	0	0	0	0	0	0.0034	0.0001	0.0005	0.0017	0.573	0.06125	T	0.364	0.16766	T	.	.	.	.	.	.	0.091944	0.02463	U	3.964970	1	0.08975	N	.	.	.	-0.24	0.66834	T	-0.75	0.21003	N	0.129	0.12341	-1.0725	0.08873	T	0.113	0.40261	T	9	0.012855351	0.00275	T	0.25168	0.89141	D	0.250	0.55888	0.309	0.28128	0.368369118721	0.36443	0.3079547994988335	0.30708	0.957870985297	0.72893	0.709866225719	0.68575	T	.	.	.	-0.449346	0.01139	T	-0.453609	0.27298	T	0.0275836064730576	0.01628	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.24157	B	.	.	0.902198	0.12763	9.280	0.2482697672020196	0.01116	0.01704	0.05416	N	AEFDBI	0.043152	0.06787	N	-1.23144798995314	0.04550	0.2055794	-1.37206547758665	0.03553	0.1659422	0.999515056286604	0.40117	0.65757	0.49021	0	0.514364	0.08380	0	0.619478	0.44681	0	0.620976	0.48614	0	.	.	1.83	-2.35	0.06302	0.380000	0.20331	-4.080000	0.02354	0.639000	0.52094	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.3868:0.1538:0.1965:0.2628	0.235	0.00172	929	0.16858	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	851.98	37	chr11	640177	.	T	C	851.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.489e+00;DP=898;ExcessHet=0.0000;FS=3.397;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.72;ReadPosRankSum=-8.230e-01;SOR=0.336	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1074	20	0	1	0
chr11	788329	788329	G	A	exonic	CEND1	.	nonsynonymous SNV	CEND1:NM_016564:exon2:c.C248T:p.T83M,	.	.	412	1108	2	0	0	2	0.000901713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.856	P	0.12	B	0.763	N	1.000	N	0.345	N	.	.	-1.023	T	0.032	T	0.082	1.749	11.81	-0.863	0.149	0.227	5.379	0.076	0.0195572039449	0.0002	0.000399361	0.0007	0	0.0002	0	0	0.0002	0	0.0045	0.0005886	91	154602	rs151228190	0.0003	0.0003	0.0002	0.0004	0.0041	0.0003	0.0003	0.0038	0.0036	0.0002	0.0002	0.0002	2.534e-05	0	0.0012	5.876e-05	0.0003	0.0041	0.0002	0.0002	0.0002	0.0003	0.0048	0.0002	0.0002	0.0033	0.0028	7.214e-05	0	6.536e-05	0.0003	0	0	0.0034	0.0001	0.0005	0.0048	0.014	0.53172	D	0.112	0.37037	T	0.856	0.47190	P	0.12	0.32230	B	0.762605	0.06549	N	1.172180	1	0.08975	N	1.355	0.33814	L	.	.	.	-2.08	0.47514	N	0.117	0.10626	-1.0228	0.22802	T	0.032	0.13854	T	9	0.004807502	0.00102	T	0.019557	0.41954	T	0.076	0.22200	.	.	0.0675242888579	0.06100	0.09491339850870163	0.09423	0.611461496872	0.55781	0.597488880157	0.52551	T	0.257557	0.62860	T	-0.558703	0.00258	T	-0.575596	0.14941	T	0.0459094398721334	0.04768	T	0.538946	0.18179	T	0.04137023	0.06080	0.04689152	0.06637	0.04137023	0.06079	0.04689152	0.06636	-5.97	0.46028	T	.	.	0.102	0.17995	B	.	.	2.241438	0.28623	17.86	0.99594061383475463	0.73807	0.04518	0.10146	N	AEFBHCI	0.059699	0.11296	N	-0.725712243466148	0.15301	0.7699299	-0.834390783387769	0.13663	0.7100122	0.999957833939911	0.48110	0.660377	0.49826	0	0.627608	0.54475	0	0.596874	0.31795	0	0.592323	0.36904	0	.	.	4.63	-0.863	0.10129	0.373000	0.20215	0.776000	0.21438	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.4273:0.1438:0.4289:0.0	5.379	0.15483	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1192.98	34	chr11	788329	.	G	A	1192.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.78;DP=801;ExcessHet=0.0000;FS=3.993;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=1.51;SOR=0.979	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1176	20	0	1	0
chr11	802055	802055	C	G	exonic	PIDD1	.	nonsynonymous SNV	PIDD1:NM_145886:exon7:c.G1212C:p.Q404H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.547	P	0.173	B	0.151	N	1.000	N	0	N	0.99	T	-1.060	T	0.036	T	0.287	0.369	6.004	-1.76	-0.134	-0.408	0.880	0.040	0.00764316624184	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs773027217	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.27310	T	0.033	0.56640	D	0.001	0.09854	B	0.001	0.06944	B	0.151250	0.17961	N	0.387617	1	0.08975	N	-0.145	0.04423	N	0.99	0.41750	T	-0.68	0.23156	N	0.279	0.32481	-1.0600	0.11756	T	0.036	0.15553	T	10	0.06647012	0.09122	T	0.007643	0.20272	T	0.040	0.10527	0.43	0.47843	0.146414634003	0.14194	0.3280101491422312	0.32714	0.206122939684	0.23039	0.65406191349	0.60563	T	0.173428	0.52229	T	-0.227681	0.16956	T	-0.564825	0.15926	T	0.118001133203506	0.14233	T	0.523848	0.17156	T	0.05737887	0.11411	0.032557618	0.02011	0.05737887	0.11411	0.032557618	0.02011	-4.886	0.35577	T	.	.	0.128	0.27252	B	.;.	.;.	0.056054	0.04683	1.328	0.9520084986897025	0.26394	0.07295	0.13317	N	AEFBI	0.094938	0.19189	N	-1.04671694751752	0.07652	0.3561937	-1.09217734377025	0.07853	0.3837031	0.999555255181188	0.40362	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.35	-1.76	0.07574	-0.157000	0.10072	-0.839000	0.07224	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.418:0.2436:0.1424:0.196	0.880	0.01155	884	0.28482	.;ZU5 domain|ZU5 domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1046.98	35	chr11	802055	.	C	G	1046.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=803;ExcessHet=0.0000;FS=0.832;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=9.000e-03;SOR=0.896	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,101,1297	20	0	1	0
chr11	824624	824624	A	G	exonic	PNPLA2	.	nonsynonymous SNV	PNPLA2:NM_020376:exon10:c.A1277G:p.N426S,	Neutral lipid storage disease with myopathy, Autosomal recessive	.	0	1518	4	0	0	4	0.00131579	.	.	425945	not_provided|Neutral_lipid_storage_myopathy	MedGen:C3661900|MONDO:MONDO:0012545,MedGen:C1853136,OMIM:610717,Orphanet:98908	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.005	B	0.003	B	0.006	N	0.926	N	0.435	N	1.54	T	-0.974	T	0.022	T	0.009	-0.127	3.377	-3.83	-0.854	0.354	12.088	0.039	0.00683594951044	0.0016	0.000798722	0.0022	0.0013	0.0012	0.0002	0	0.0032	0.0027	0.0013	0.0010608	164	154602	rs140634178	0.0020	0.0020	0.0020	0.0020	0.0024	0.0019	0.0019	0.0023	0.0023	0.0005	0.0006	7.735e-05	2.551e-05	0.0002	0.0004	0.0024	0.0020	0.0008	0.0012	0.0012	0.0012	0.0012	0.0020	0.0011	0.0010	0.0017	0.0016	0.0006	0.0022	0.0010	0	0.0004	0	0	0.0020	0.0009	0.0006	0.506	0.07594	T	0.649	0.06762	T	0.005	0.12996	B	0.003	0.08700	B	0.005751	0.32538	N	0.351400	0.926257	0.27173	N	0.615	0.15706	N	1.54	0.30133	T	0.11	0.05706	N	0.03	0.00717	-0.9738	0.36387	T	0.022	0.09284	T	10	0.005394697	0.00118	T	0.006836	0.18065	T	0.039	0.10176	.	.	0.110078149338	0.10416	0.08222978001075408	0.08157	0.176759458968	0.19889	0.503060936928	0.39254	T	0.110864	0.42590	T	-0.686335	0.00044	T	-0.765434	0.02921	T	0.00331642030222193	0.00035	T	0.734627	0.35069	T	0.01713363	0.00248	0.029928904	0.01387	0.014671594	0.00103	0.028322564	0.01058	-2.053	0.03388	T	.	.	0.054	0.00315	B	.	.	-0.575701	0.01639	0.114	0.32044130761332185	0.01837	0.28718	0.23630	N	AEFDBHCI	0.069475	0.13753	N	-1.42650996599508	0.02408	0.1062897	-1.35272457139168	0.03774	0.1767301	0.999749547647046	0.42466	0.706548	0.73137	0	0.643519	0.57511	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.59	-3.83	0.03988	0.486000	0.22048	0.667000	0.20560	-0.904000	0.02305	0.985000	0.35982	0.969000	0.29651	0.043000	0.14563	0.4846:0.0:0.5154:0.0	12.088	0.53005	878	0.29785	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	743.98	37	chr11	824624	.	A	G	743.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=897;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.66;ReadPosRankSum=1.15;SOR=0.663	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr11	824777	824777	C	T	exonic	PNPLA2	.	nonsynonymous SNV	PNPLA2:NM_020376:exon10:c.C1430T:p.P477L,	Neutral lipid storage disease with myopathy, Autosomal recessive	.	3	1502	14	0	3	17	0.00463883	.	.	254356	not_specified|Neutral_lipid_storage_myopathy|not_provided	MedGen:CN169374|MONDO:MONDO:0012545,MedGen:C1853136,OMIM:610717,Orphanet:98908|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	0.024	N	1.000	N	1.32	L	1.29	T	-1.006	T	0.090	T	0.048	0.602	7.244	2.26	0.408	1.636	6.546	0.085	0.0223711410916	.	0.000599042	0.0044	0	0	0	0	0.0017	0.0061	0.0085	0.0007956	123	154602	rs142588621	0.0006	0.0006	0.0004	0.0008	0.0065	0.0006	0.0006	0.0061	0.0059	9.426e-05	0.0002	0.0016	2.763e-05	0	0.0028	0.0002	0.0009	0.0065	0.0004	0.0004	0.0002	0.0005	0.0043	0.0003	0.0003	0.0029	0.0024	7.217e-05	0	0.0001	0.0032	0.0002	0	0.0034	0.0002	0.0005	0.0043	0.0	0.91255	D	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.024485	0.01612	N	2.198490	1	0.08975	N	0.69	0.16971	N	1.29	0.35775	T	-1.43	0.35194	N	0.057	0.02861	-1.0064	0.28034	T	0.090	0.34491	T	10	0.005427867	0.00120	T	0.022371	0.45252	T	0.085	0.24743	0.113	0.02240	0.227934060464	0.22382	0.24573239084740695	0.24487	0.226915953546	0.25236	0.652659654617	0.60363	T	0.282407	0.65515	T	-0.627288	0.00099	T	-0.671082	0.07539	T	0.0291134502509285	0.01854	T	0.517048	0.16713	T	0.029542774	0.02466	0.050078835	0.07785	0.040267084	0.05716	0.054464377	0.09372	-3.901	0.22318	T	.	.	0.088	0.11654	B	.	.	1.057497	0.14390	10.97	0.91807305475386769	0.21114	0.11034	0.16362	N	AEFDBCI	0.077363	0.15585	N	-0.807526944842923	0.13117	0.6440008	-0.852982367295794	0.13216	0.6843807	0.996066604794161	0.34501	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.14	2.26	0.27418	0.180000	0.16672	0.325000	0.17225	0.401000	0.20554	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.7948:0.0:0.2052	6.546	0.21603	878	0.29785	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2205.98	37	chr11	824777	.	C	T	2205.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.126e+00;DP=960;ExcessHet=0.0000;FS=4.471;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.59;ReadPosRankSum=-8.340e-01;SOR=0.395	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr11	862716	862718	AGG	-	exonic	TSPAN4	.	nonframeshift deletion	TSPAN4:NM_001025238:exon3:c.230_232del:p.E78del	.	.	413	1105	4	0	0	4	0.00180668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0028	0.000798722	0.0016	0.0004	0.0006	0.0001	0.0011	0.0023	0.0024	0.0010	0.0013971	216	154602	rs562370781	0.0024	0.0024	0.0025	0.0024	0.0029	0.0024	0.0023	0.0028	0.0028	0.0004	0.0006	3.836e-05	2.52e-05	0.0011	0.0003	0.0029	0.0024	0.0007	0.0016	0.0016	0.0015	0.0017	0.0027	0.0014	0.0014	0.0024	0.0022	0.0006	0.0022	0.0009	0	0.0002	0.0010	0	0.0027	0.0009	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1132.94	41	chr11	862715	.	AAGG	A	1132.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=864;ExcessHet=0.0000;FS=1.228;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.12;ReadPosRankSum=0.977;SOR=1.082	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	20	0	1	0
chr11	1013992	1013992	C	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon32:c.G7049A:p.S2350N,	.	.	420	1097	5	0	0	5	0.00227376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.941	P	0.425	B	.	.	1.000	N	1.65	L	2.04	T	-1.055	T	0.034	T	0.034	0.948	8.866	1.88	0.387	1.012	5.304	0.056	.	0.0038	0.00139776	0.0070	0.0015	0.0009	0	0.0218	0.0099	0.0037	0.0018	0.0045924	710	154602	rs148815783	0.0062	0.0062	0.0064	0.0060	0.0070	0.0061	0.0061	0.0068	0.0068	0.0010	0.0009	0.0017	0	0.0158	0.0012	0.0070	0.0041	0.0014	0.0046	0.0046	0.0047	0.0046	0.0066	0.0044	0.0042	0.0061	0.0059	0.0012	0	0.0016	0.0026	0	0.0161	0	0.0066	0.0005	0.0012	0.027	0.46513	D	0.01	0.65728	D	0.941	0.52883	P	0.425	0.45259	B	.	.	.	.	1	0.08975	N	0.975	0.24501	L	2.04	0.20808	T	-0.89	0.24026	N	0.233	0.26233	-1.0550	0.13040	T	0.034	0.14552	T	9	0.0065174997	0.00148	T	.	.	.	0.056	0.15993	.	.	0.500868654924	0.49723	0.11142178411848841	0.11071	0.0825499896549	0.09315	0.360421180725	0.19446	T	0.042418	0.26175	T	-0.690488	0.00042	T	-0.755219	0.03287	T	0.0116181190688025	0.00177	T	.	.	.	0.073693715	0.16485	0.097447015	0.23196	0.073693715	0.16485	0.097447015	0.23195	-7.278	0.56038	T	.	.	0.144	0.31733	B	.	.	1.717483	0.21869	15.38	0.96988284676814884	0.31892	0.12235	0.17144	N	AEFBCI	0.100245	0.20161	N	-0.369346665629509	0.26567	1.45092	-0.545701472199829	0.20919	1.129303	0.82838907774938	0.24649	0.514905	0.20481	0	0.550933	0.16991	0	0.603688	0.36954	0	0.562822	0.20929	0	.	.	3.81	1.88	0.24630	0.291000	0.18748	0.966000	0.23025	0.539000	0.25131	0.013000	0.18845	0.000000	0.08366	0.014000	0.10232	0.0:0.6747:0.2086:0.1167	5.304	0.15102	830	0.39242	Cystine knot, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	818.98	33	chr11	1013992	.	C	T	818.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.270e-01;DP=797;ExcessHet=0.0000;FS=3.737;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.88;ReadPosRankSum=1.09;SOR=0.330	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1286	20	0	1	0
chr11	1016614	1016614	G	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C6187A:p.P2063T,	.	.	387	1134	1	0	0	1	0.000440723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.006	B	0.006	B	.	.	1.000	N	1.845	L	1.91	T	-0.990	T	0.047	T	0.089	0.739	7.922	-2.22	-0.967	-0.706	1.669	0.009	0.00175165915732	.	.	0.0004	0	9.029e-05	0.0006	0.0002	0.0004	0.0013	0.0007	0.0004269	66	154602	rs148793744	0.0001	0.0013	0.0001	0.0002	0.0007	0.0001	0.0001	0.0005	0.0004	9.571e-05	0.0002	0.0001	0.0007	0.0002	0	0.0001	0.0002	0.0003	0.0040	0.0045	0.0042	0.0038	0.0227	0.0029	0.0025	0.0062	0.0033	0.0048	0	0.0033	0	0.0227	0.0035	0	0.0029	0.0079	0.0147	0.047	0.40319	D	0.282	0.21545	T	0.006	0.13644	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	2.085	0.57729	M	1.91	0.23283	T	-1.45	0.35597	N	0.048	0.01999	-0.9902	0.32551	T	0.047	0.20275	T	9	0.0031918883	0.00054	T	0.001752	0.02960	T	0.009	0.00846	.	.	0.117506650769	0.11410	0.19015794908314243	0.18933	0.342876420663	0.36218	0.1855314821	0.00156	T	0.047332	0.27691	T	-0.217386	0.18352	T	-0.550037	0.17323	T	0.0452130291724069	0.04641	T	.	.	.	0.050521784	0.09141	0.0766043	0.16982	0.050521784	0.09141	0.0766043	0.16982	-4.787	0.34440	T	.	.	0.071	0.03964	B	.	.	0.735216	0.11045	7.699	0.85479584403720932	0.15919	0.04555	0.10195	N	AEFDGBCI	0.033397	0.03951	N	-1.52482507739275	0.01687	0.07384677	-1.6531557408996	0.01360	0.06139855	0.999996812163428	0.74766	0.004792	0.00041	3	0.008208	0.00037	3	0.019298	0.00145	3	0.683672	0.66515	0	.	.	2.46	-2.22	0.06560	-1.300000	0.02859	-6.638000	0.01345	-0.175000	0.10903	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.3172:0.1383:0.4048:0.1396	1.669	0.02638	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	6439.11	248	chr11	1016614	.	G	T	6439.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.38;DP=4614;ExcessHet=0.1072;FS=6.487;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=57.51;MQRankSum=0.775;QD=11.34;ReadPosRankSum=-8.400e+00;SOR=0.774	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:287,0:287:99:.:.:0,120,1800	19	0	2	0
chr11	1016698	1016698	A	G	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.T6103C:p.S2035P,	.	.	337	1184	1	0	0	1	0.000422119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.0	B	0.0	B	.	.	1.000	N	0.35	N	1.61	T	-1.022	T	0.035	T	0.133	0.988	9.036	-3.31	-0.888	-2.204	6.544	0.010	0.0032764450776	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1348308459	0	4.036e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.616e-06	0.0037	0	1.353e-05	6.571e-05	0	0	.	.	0	0	6.571e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.26	0.23029	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.975	0.53506	M	1.61	0.28391	T	0.16	0.05217	N	0.017	0.00226	-1.0219	0.23096	T	0.035	0.15204	T	9	0.056661963	0.06385	T	0.003276	0.07237	T	0.010	0.01040	.	.	0.141422826196	0.13715	0.09814884797171804	0.09745	0.528953778079	0.50459	0.199680924416	0.00447	T	0.03194	0.22267	T	-0.275574	0.11144	T	-0.633619	0.10141	T	0.133303746581078	0.15684	T	.	.	.	0.11627896	0.27428	0.11207834	0.27041	0.11627896	0.27427	0.11207834	0.27040	-7.81	0.59768	D	.	.	0.077	0.06250	B	.	.	0.149198	0.05419	1.892	0.95721010947632323	0.27646	0.02388	0.06778	N	AEFDGBCI	0.060621	0.11532	N	-1.4173594588111	0.02486	0.1098523	-1.53648350604508	0.02070	0.09467104	0.999997689214056	0.74766	0.675202	0.55065	0	0.67197	0.64623	0	0.67197	0.60751	0	0.387032	0.06801	2	.	.	1.66	-3.31	0.04677	-4.186000	0.00316	-2.395000	0.03808	-0.174000	0.10959	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4151:0.0:0.5849:0.0	6.544	0.21594	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	137.98	462	chr11	1016698	.	A	G	137.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.009e+00;DP=9843;ExcessHet=0.0000;FS=4.101;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.80;MQRankSum=-7.532e+00;QD=0.17;ReadPosRankSum=0.206;SOR=1.625	GT:AD:DP:GQ:PL	0/0:639,0:639:99:0,120,1800	20	0	1	0
chr11	1016833	1016833	G	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C5968A:p.Q1990K,	.	.	281	1179	59	3	0	65	0.0268262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.0	B	0.0	B	.	.	1.000	N	-0.62	N	2.13	T	-0.975	T	0.017	T	0.066	-1.580	0.014	-4.45	-0.632	-2.138	6.937	0.007	.	.	.	0.0066	0.0054	0.0137	0.0052	0.0059	0.0068	0.0066	0.0025	0.0052134	806	154602	rs71472140	3.434e-06	0.0017	1.367e-06	5.521e-06	2.519e-05	1.01e-06	7.3e-07	3e-07	1.1e-07	0	0	0	2.519e-05	1.879e-05	0	1.807e-06	1.661e-05	0	2.069e-05	0.0071	1.351e-05	2.818e-05	8.309e-05	5.5e-06	2.53e-06	2.202e-05	1.11e-05	8.309e-05	0	0	0	0	0	0	0	0	0	0.044	0.41096	D	0.919	0.02882	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.06	0.08197	N	2.13	0.19588	T	-0.27	0.11366	N	0.04	0.01347	-0.9752	0.36082	T	0.017	0.07187	T	9	0.0052206814	0.00114	T	.	.	.	0.007	0.00512	.	.	0.144782658237	0.14088	0.13176804686492347	0.13101	0.15740334082	0.17771	0.169174268842	0.00029	T	0.02147	0.16712	T	-0.367096	0.03743	T	-0.765084	0.02933	T	0.0911382230154741	0.11353	T	.	.	.	0.054971293	0.10621	0.04779059	0.06962	0.054971293	0.10621	0.04779059	0.06962	-4.265	0.27683	T	.	.	0.066	0.02228	B	.	.	-0.805330	0.01096	0.049	0.58088108874946298	0.05914	0.01441	0.04838	N	AEFDGBCI	0.026879	0.02097	N	-1.70474050646289	0.00825	0.0356758	-1.75322499355266	0.00921	0.04121295	0.999999157703228	0.74766	0.716459	0.82106	0	0.639134	0.57113	0	0.73237	0.93354	0	0.264475	0.05362	3	.	.	2.97	-4.45	0.03298	-1.290000	0.02886	-8.924000	0.00893	-0.874000	0.02518	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.3598:0.3829:0.2573	6.937	0.23652	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	333.98	915	chr11	1016833	.	G	T	333.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.460e-01;DP=20144;ExcessHet=0.0000;FS=2.416;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.26;MQRankSum=-9.559e+00;QD=0.32;ReadPosRankSum=0.598;SOR=1.058	GT:AD:DP:GQ:PL	0/0:1138,0:1138:99:0,120,1800	20	0	1	0
chr11	1016851	1016851	T	C	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.A5950G:p.M1984V,	.	.	281	1238	3	0	0	3	0.00121017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9	T	0.0	B	0.0	B	.	.	1.000	N	1.355	L	2.28	T	-0.928	T	0.026	T	0.054	-0.488	1.757	-1.23	-0.732	-3.137	7.098	0.004	.	.	.	0.0231	0.0297	0.0231	0.0209	0.0368	0.0240	0.0232	0.0114	0.0181822	2811	154602	rs754979325	0	0.0011	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0062	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.762	0.03461	T	0.88	0.03223	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.28	0.17271	T	0.36	0.03700	N	0.012	0.00125	-0.9277	0.44473	T	0.026	0.11309	T	9	0.0032328367	0.00055	T	.	.	.	0.004	0.00165	.	.	.	.	0.1335921856320022	0.13283	0.0978313491175	0.11032	0.184167280793	0.00138	T	0.017404	0.14204	T	-0.412732	0.01907	T	-0.830637	0.01251	T	0.021098348690303	0.00812	T	.	.	.	0.041747283	0.06205	0.057118785	0.10328	0.041747283	0.06205	0.057118785	0.10327	-0.452	0.00555	T	.	.	0.062	0.01252	B	.	.	-1.494209	0.00298	0.005	0.50998894571202691	0.04484	0.01029	0.03860	N	AEFDGBCI	0.021822	0.01018	N	-1.89200825186315	0.00357	0.01531653	-1.95342143093919	0.00382	0.01690211	0.999992092565461	0.74766	0.675202	0.55065	0	0.639134	0.57113	0	0.67197	0.60751	0	0.264475	0.05362	3	.	.	2.75	-1.23	0.08977	-3.153000	0.00641	-2.564000	0.03604	-2.546000	0.00249	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1589:0.2688:0.5723	7.098	0.24500	830	0.39242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	99.98	942	chr11	1016851	.	T	C	99.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.75;DP=20247;ExcessHet=0.0000;FS=2.458;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.56;MQRankSum=-1.545e+01;QD=0.08;ReadPosRankSum=-1.167e+00;SOR=1.185	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1204,0:1204:99:.:.:0,117,1800	20	0	1	0
chr11	1016881	1016881	C	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.G5920A:p.G1974R,	.	.	282	1233	6	1	0	8	0.00323363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.239	B	0.114	B	.	.	1.000	N	1.155	L	2.27	T	-0.984	T	0.026	T	0.117	-0.279	2.663	-4.06	-2.025	-0.100	7.679	0.036	0.00103325632618	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1282982114	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.019	0.50132	D	0.126	0.35205	T	0.239	0.30839	B	0.114	0.31755	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	2.27	0.17431	T	-1.05	0.27463	N	0.078	0.05287	-0.9842	0.34022	T	0.026	0.11220	T	9	0.06405285	0.08436	T	0.001033	0.01144	T	0.036	0.09122	0.338	0.32816	0.192905019026	0.18896	0.14932920051736123	0.14854	0.521877933732	0.49939	0.205686062574	0.00641	T	0.030745	0.21720	T	-0.30016	0.08644	T	-0.668936	0.07676	T	0.149228978490301	0.17042	T	.	.	.	0.11304487	0.26702	0.06163316	0.11934	0.11304487	0.26702	0.06163316	0.11933	-7.981	0.60941	D	.	.	0.118	0.23952	B	.	.	1.233689	0.16288	12.44	0.76633010661181944	0.11547	0.03963	0.09370	N	AEFDGBCI	0.041382	0.06283	N	-1.28708027589074	0.03830	0.1718021	-1.45389755068842	0.02735	0.1263413	0.999999866413803	0.74766	0.675202	0.55065	0	0.639134	0.57113	0	0.67197	0.60751	0	0.264475	0.05362	3	.	.	2.03	-4.06	0.03718	-0.118000	0.10665	0.000000	0.13247	0.545000	0.25583	0.000000	0.06391	0.011000	0.20116	0.001000	0.02609	0.1633:0.5026:0.3341:0.0	7.679	0.27672	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	114.98	879	chr11	1016881	.	C	T	114.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=18318;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.09;MQRankSum=-5.022e+00;QD=0.20;ReadPosRankSum=0.974;SOR=0.778	GT:AD:DP:GQ:PL	0/0:866,0:866:99:0,120,1800	20	0	1	0
chr11	1016905	1016905	A	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.T5896A:p.F1966I,	.	.	296	1216	10	0	0	10	0.004095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.005	B	0.004	B	.	.	1.000	N	0.345	N	2.16	T	-0.981	T	0.022	T	0.121	0.829	8.340	-3.31	-0.826	-0.344	3.382	0.002	0.00421767754056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369592014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0011	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.205	0.20002	T	0.395	0.15255	T	0.005	0.12996	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.295	0.32453	L	2.16	0.19166	T	-0.63	0.18459	N	0.144	0.14480	-0.9809	0.34794	T	0.022	0.09147	T	9	0.046243697	0.03791	T	0.004218	0.10184	T	0.002	0.00045	.	.	0.119812018005	0.11559	0.13677124270889138	0.13601	0.530745344026	0.50606	0.203865617514	0.00578	T	0.028633	0.20698	T	-0.335171	0.05730	T	-0.719227	0.04833	T	0.0654084905982018	0.07992	T	.	.	.	0.035379708	0.04153	0.033076324	0.02143	0.035379708	0.04153	0.033076324	0.02143	-9.016	0.67800	D	.	.	0.105	0.19398	B	.	.	0.557307	0.09259	6.041	0.85651716146356816	0.16026	0.01975	0.05977	N	AEFDGBCI	0.028454	0.02510	N	-1.53454620578347	0.01627	0.0711344	-1.60038129960586	0.01653	0.07503599	0.99999748474377	0.74766	0.69289	0.55638	0	0.001931	0.00023	2	0.634913	0.45138	1	0.264475	0.05362	3	.	.	3.12	-3.31	0.04677	-3.997000	0.00358	-12.137000	0.00548	-1.664000	0.00809	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3258:0.0:0.3614:0.3128	3.382	0.06835	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	319.98	796	chr11	1016905	.	A	T	319.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.956e+00;DP=16484;ExcessHet=0.0000;FS=1.024;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.78;MQRankSum=-3.292e+00;QD=0.70;ReadPosRankSum=1.80;SOR=0.713	GT:AD:DP:GQ:PL	0/0:747,0:747:99:0,120,1800	20	0	1	0
chr11	1016947	1016947	C	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.G5854A:p.A1952T,	.	.	310	1208	4	0	0	4	0.00165289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.001	B	0.001	B	.	.	1.000	N	1.155	L	2.16	T	-0.952	T	0.028	T	0.027	1.348	10.43	-2.1	-0.400	-0.966	4.543	0.005	0.00510987525816	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1231704494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.321e-05	0.0031	2.585e-05	0	2.421e-05	2.2e-06	8.2e-07	.	.	2.421e-05	0	0	0	0	0	0	1.48e-05	0	0	0.084	0.32929	T	0.89	0.03134	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	2.16	0.19166	T	0.03	0.06612	N	0.021	0.00339	-0.9517	0.40678	T	0.028	0.12014	T	9	0.056096375	0.06235	T	0.00511	0.12970	T	0.005	0.00259	.	.	0.143124449307	0.13826	0.0819202071560189	0.08127	0.449518881182	0.44739	0.16749317944	0.00024	T	0.008032	0.07391	T	-0.41748	0.01775	T	-0.837458	0.01138	T	0.0973756408423132	0.12065	T	.	.	.	0.035765704	0.04273	0.054211512	0.09279	0.035765704	0.04273	0.054211512	0.09279	-6.49	0.50209	T	.	.	0.073	0.04477	B	.	.	-0.259542	0.02800	0.384	0.90664406899768024	0.19915	0.00422	0.02082	N	AEFDGBCI	0.016128	0.00345	N	-1.28484675540521	0.03857	0.1730705	-1.37142780317007	0.03560	0.166289	0.999991833278382	0.74766	0.69289	0.55638	0	0.001931	0.00023	2	0.634913	0.45138	1	0.264475	0.05362	3	.	.	3.12	-2.1	0.06809	-1.116000	0.03397	-9.636000	0.00795	-0.322000	0.05848	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5005:0.1801:0.3194	4.543	0.11466	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	77.98	607	chr11	1016947	.	C	T	77.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.024e+00;DP=13265;ExcessHet=0.0000;FS=1.593;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.04;MQRankSum=-9.510e-01;QD=0.21;ReadPosRankSum=1.99;SOR=0.673	GT:AD:DP:GQ:PL	0/0:480,0:480:99:0,120,1800	20	0	1	0
chr11	1016991	1016991	T	0	exonic	MUC6	.	.	.	.	.	358	255	795	7	107	916	0.613343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	62335.98	527	chr11	1016991	.	T	*,G	62335.98	.	AC=2,17;AF=0.048,0.405;AN=42;BaseQRankSum=3.01;DP=12391;ExcessHet=36.0830;FS=1.214;InbreedingCoeff=-0.8261;MLEAC=2,17;MLEAF=0.048,0.405;MQ=54.84;MQRankSum=-1.661e+01;QD=5.45;ReadPosRankSum=-4.007e+00;SOR=0.802	GT:AD:DP:GQ:PL	0/1:384,69,0:453:99:1742,0,15694,2897,15901,18799	2	0	2	0
chr11	1017464	1017464	T	0	exonic	MUC6	.	.	.	.	.	358	217	98	1	848	948	0.187266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	62761.5	562	chr11	1017464	.	T	G,C,*	62761.5	.	AC=4,11,5;AF=0.100,0.275,0.125;AN=40;BaseQRankSum=3.67;DP=13460;ExcessHet=43.6797;FS=0.579;InbreedingCoeff=-0.9535;MLEAC=4,11,5;MLEAF=0.100,0.275,0.125;MQ=56.28;MQRankSum=-1.476e+01;QD=5.03;ReadPosRankSum=3.18;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:370,23,109,0:502:99:.:.:3463,3611,19078,0,14551,15184,4577,19139,15515,20101	0	0	4	1
chr11	1017465	1017465	C	0	exonic	MUC6	.	.	.	.	.	334	991	23	0	174	197	0.0114713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	810.88	546	chr11	1017465	.	C	A,*	810.88	.	AC=2,5;AF=0.059,0.147;AN=34;BaseQRankSum=-3.140e-01;DP=13242;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=2,6;MLEAF=0.059,0.176;MQ=55.99;MQRankSum=-7.141e+00;QD=0.16;ReadPosRankSum=-2.532e+00;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:491,0,0:491:99:.:.:0,120,1800,120,1800,1800	10	0	2	4
chr11	1017466	1017466	T	0	exonic	MUC6	.	.	.	.	.	0	26	52	0	148	200	0.5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	54938.57	566	chr11	1017466	.	T	C,A,*	54938.57	.	AC=13,3,5;AF=0.310,0.071,0.119;AN=42;BaseQRankSum=2.07;DP=13458;ExcessHet=54.0936;FS=0.611;InbreedingCoeff=-1.0000;MLEAC=13,3,5;MLEAF=0.310,0.071,0.119;MQ=56.42;MQRankSum=-1.354e+01;QD=4.16;ReadPosRankSum=3.19;SOR=0.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:383,64,61,0:508:99:.:.:1538,0,15888,112,13524,16008,2682,16081,16194,18760	0	0	13	0
chr11	1017467	1017467	G	0	exonic	MUC6	.	.	.	.	.	336	797	216	0	173	389	0.119337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	2402.58	548	chr11	1017467	.	G	A,*	2402.58	.	AC=6,3;AF=0.200,0.100;AN=30;BaseQRankSum=2.71;DP=13253;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.4000;MLEAC=7,4;MLEAF=0.233,0.133;MQ=56.65;MQRankSum=-5.514e+00;QD=0.40;ReadPosRankSum=0.240;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:464,45,0:509:99:.:.:473,0,19348,1869,19483,21353	6	0	6	6
chr11	1017470	1017470	G	0	exonic	MUC6	.	.	.	.	.	0	29	117	0	80	197	0.668571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	88683.23	557	chr11	1017470	.	G	T,*	88683.23	.	AC=15,5;AF=0.375,0.125;AN=40;BaseQRankSum=0.038;DP=13562;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9535;MLEAC=15,5;MLEAF=0.375,0.125;MQ=56.60;MQRankSum=-1.458e+01;QD=7.02;ReadPosRankSum=3.68;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:390,119,0:509:99:0|1:1017440_C_T:3823,0,16018,4997,16376,21373:1017440	0	0	15	1
chr11	1017471	1017471	C	0	exonic	MUC6	.	.	.	.	.	335	839	180	1	167	349	0.0978495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	9671.86	554	chr11	1017471	.	C	T,*	9671.86	.	AC=10,4;AF=0.294,0.118;AN=34;BaseQRankSum=1.94;DP=13468;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=11,5;MLEAF=0.324,0.147;MQ=55.80;MQRankSum=-1.060e+01;QD=1.01;ReadPosRankSum=2.55;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:489,0,0:489:99:.:.:0,120,1800,120,1800,1800	3	0	10	4
chr11	1017474	1017474	G	0	exonic	MUC6	.	.	.	.	.	342	447	564	2	167	735	0.388509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	11964.24	565	chr11	1017474	.	G	A,*	11964.24	.	AC=13,5;AF=0.342,0.132;AN=38;BaseQRankSum=-3.530e-01;DP=13558;ExcessHet=30.0624;FS=0.861;InbreedingCoeff=-0.8261;MLEAC=14,5;MLEAF=0.368,0.132;MQ=56.37;MQRankSum=-7.879e+00;QD=1.05;ReadPosRankSum=1.66;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:453,60,0:513:99:0|1:1017458_A_G:1156,0,18841,2519,19021,21541:1017458	1	0	13	2
chr11	1017475	1017475	T	0	exonic	MUC6	.	.	.	.	.	339	985	31	0	167	198	0.0154923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	436.22	548	chr11	1017475	.	T	*,G	436.22	.	AC=4,1;AF=0.125,0.031;AN=32;BaseQRankSum=3.07;DP=13290;ExcessHet=1.1607;FS=1.912;InbreedingCoeff=-0.2174;MLEAC=5,1;MLEAF=0.156,0.031;MQ=56.45;MQRankSum=-6.635e+00;QD=0.12;ReadPosRankSum=6.01;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:492,0,0:492:99:.:.:0,120,1800,120,1800,1800	11	0	4	5
chr11	1017475	1017475	T	G	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.A5326C:p.T1776P,	.	.	339	985	31	0	167	198	0.0154923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.967	D	0.915	D	.	.	1.000	N	1.65	L	1.92	T	-1.035	T	0.084	T	0.142	1.872	12.22	-1.4	-0.326	0.060	2.878	0.035	.	.	.	0.0131	0.0110	0.0073	0.0102	0.0092	0.0120	0.0094	0.0280	.	.	.	rs767120670	0	0.0007	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0052	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.023	0.48186	D	0.022	0.57587	D	0.967	0.56408	D	0.915	0.65091	D	.	.	.	.	1	0.08975	N	1.965	0.53209	M	1.92	0.23082	T	-0.7	0.19933	N	0.032	0.00825	-1.0346	0.18983	T	0.084	0.32729	T	9	0.0030392706	0.00050	T	.	.	.	0.035	0.08770	.	.	.	.	0.12709291837497497	0.12635	0.286751042776	0.31065	0.161724865437	0.00012	T	0.014035	0.12025	T	-0.171226	0.25050	T	-0.483731	0.24051	T	0.165187418460846	0.18247	T	.	.	.	0.07586503	0.17121	0.10278301	0.24644	0.07586503	0.17121	0.10278301	0.24643	-7.784	0.59588	D	.	.	0.075	0.05317	B	.	.	1.345915	0.17528	13.22	0.86401350992746828	0.16511	0.09225	0.15024	N	AEFDGBHCI	0.087222	0.17685	N	-0.554133786201835	0.20354	1.072371	-0.848067051572066	0.13334	0.6911499	0.999988853852363	0.51787	0.004792	0.00041	3	0.008208	0.00037	3	0.634913	0.45138	1	0.387032	0.06801	2	.	.	2.33	-1.4	0.08499	-0.249000	0.08861	-3.059000	0.03098	-1.265000	0.01286	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1901:0.2576:0.0:0.5523	2.878	0.05292	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.1562	436.22	548	chr11	1017475	.	T	*,G	436.22	.	AC=4,1;AF=0.125,0.031;AN=32;BaseQRankSum=3.07;DP=13290;ExcessHet=1.1607;FS=1.912;InbreedingCoeff=-0.2174;MLEAC=5,1;MLEAF=0.156,0.031;MQ=56.45;MQRankSum=-6.635e+00;QD=0.12;ReadPosRankSum=6.01;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:492,0,0:492:99:.:.:0,120,1800,120,1800,1800	11	0	4	5
chr11	1017483	1017483	T	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	81106.23	565	chr11	1017483	.	T	G,*	81106.23	.	AC=15,5;AF=0.375,0.125;AN=40;BaseQRankSum=6.32;DP=13450;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9535;MLEAC=15,5;MLEAF=0.375,0.125;MQ=56.60;MQRankSum=-1.502e+01;QD=6.50;ReadPosRankSum=3.20;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:411,105,0:516:99:0|1:1017440_C_T:3172,0,16942,4409,17258,21667:1017440	0	0	15	1
chr11	1017485	1017485	G	0	exonic	MUC6	.	.	.	.	.	345	838	28	1	310	340	0.017585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	8917.62	568	chr11	1017485	.	G	A,*	8917.62	.	AC=9,3;AF=0.300,0.100;AN=30;BaseQRankSum=3.65;DP=13357;ExcessHet=9.6308;FS=1.662;InbreedingCoeff=-0.5548;MLEAC=11,4;MLEAF=0.367,0.133;MQ=55.50;MQRankSum=-1.127e+01;QD=1.11;ReadPosRankSum=8.04;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:504,0,0:504:99:.:.:0,120,1800,120,1800,1800	3	0	9	6
chr11	1017489	1017489	G	0	exonic	MUC6	.	.	.	.	.	344	749	262	0	167	429	0.148864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	7292.49	575	chr11	1017489	.	G	A,*	7292.49	.	AC=12,5;AF=0.300,0.125;AN=40;BaseQRankSum=5.22;DP=13481;ExcessHet=25.1139;FS=0.874;InbreedingCoeff=-0.6876;MLEAC=12,5;MLEAF=0.300,0.125;MQ=56.46;MQRankSum=-8.490e+00;QD=0.71;ReadPosRankSum=0.688;SOR=0.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:474,48,0:522:99:0|1:1017489_G_A:589,0,19759,2016,19903,21919:1017489	3	0	12	1
chr11	1017495	1017498	ATGC	0	exonic	MUC6	.	.	.	.	.	368	763	224	1	166	392	0.128995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4062	22503.92	584	chr11	1017495	.	ATGC	A,*	22503.92	.	AC=10,3;AF=0.313,0.094;AN=32;BaseQRankSum=3.43;DP=13485;ExcessHet=11.8493;FS=2.630;InbreedingCoeff=-0.5849;MLEAC=12,4;MLEAF=0.375,0.125;MQ=55.70;MQRankSum=-1.139e+01;QD=2.46;ReadPosRankSum=8.78;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:505,0,0:505:99:.:.:0,120,1800,120,1800,1800	3	0	10	5
chr11	1017498	1017498	C	0	exonic	MUC6	.	.	.	.	.	7	56	24	0	139	163	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	21074.63	572	chr11	1017498	.	C	G,T,*	21074.63	.	AC=7,4,7;AF=0.194,0.111,0.194;AN=36;BaseQRankSum=-3.970e-01;DP=13422;ExcessHet=30.0624;FS=1.184;InbreedingCoeff=-0.8667;MLEAC=8,4,8;MLEAF=0.222,0.111,0.222;MQ=56.34;MQRankSum=-1.681e+01;QD=1.81;ReadPosRankSum=3.85;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:424,14,69,0:507:99:.:.:1564,2535,19851,0,17072,17919,2897,19971,18129,21028	0	0	7	3
chr11	1017504	1017504	G	0	exonic	MUC6	.	.	.	.	.	339	904	113	0	166	279	0.0588235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	2301.88	593	chr11	1017504	.	G	A,*	2301.88	.	AC=6,4;AF=0.176,0.118;AN=34;BaseQRankSum=3.07;DP=13147;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3958;MLEAC=7,5;MLEAF=0.206,0.147;MQ=56.93;MQRankSum=-1.066e+01;QD=0.38;ReadPosRankSum=-8.910e-01;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:499,36,0:535:10:0|1:1017489_G_A:10,0,20772,1512,20881,22392:1017489	7	0	6	4
chr11	1017514	1017514	A	0	exonic	MUC6	.	.	.	.	.	2	59	85	0	80	165	0.418719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	104987.83	590	chr11	1017514	.	A	G,*	104987.83	.	AC=15,4;AF=0.395,0.105;AN=38;BaseQRankSum=-1.403e+00;DP=13650;ExcessHet=36.0830;FS=1.234;InbreedingCoeff=-0.9091;MLEAC=16,4;MLEAF=0.421,0.105;MQ=56.57;MQRankSum=-1.729e+01;QD=8.60;ReadPosRankSum=3.73;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:463,73,0:536:99:.:.:1338,0,18300,2731,18519,21251	0	0	15	2
chr11	1017522	1017522	T	0	exonic	MUC6	.	.	.	.	.	346	931	79	2	164	247	0.0426735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	4405.44	578	chr11	1017522	.	T	G,*	4405.44	.	AC=3,3;AF=0.100,0.100;AN=30;BaseQRankSum=1.48;DP=13418;ExcessHet=1.7912;FS=0.769;InbreedingCoeff=-0.2727;MLEAC=4,4;MLEAF=0.133,0.133;MQ=56.24;MQRankSum=-6.364e+00;QD=1.00;ReadPosRankSum=3.23;SOR=0.630	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:531,0,0:531:99:.:.:0,120,1800,120,1800,1800	9	0	3	6
chr11	1017528	1017528	T	0	exonic	MUC6	.	.	.	.	.	354	989	176	0	3	179	0.0817084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	489.22	578	chr11	1017528	.	T	A,*	489.22	.	AC=1,4;AF=0.031,0.125;AN=32;BaseQRankSum=9.03;DP=14270;ExcessHet=1.1607;FS=1.683;InbreedingCoeff=-0.2174;MLEAC=1,5;MLEAF=0.031,0.156;MQ=56.06;MQRankSum=-7.771e+00;QD=0.11;ReadPosRankSum=0.365;SOR=0.961	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:531,0,0:531:99:.:.:0,120,1800,120,1800,1800	11	0	1	5
chr11	1017529	1017529	G	0	exonic	MUC6	.	.	.	.	.	367	747	232	0	176	408	0.134415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	10324.21	612	chr11	1017529	.	G	A,*	10324.21	.	AC=7,4;AF=0.219,0.125;AN=32;BaseQRankSum=-1.543e+00;DP=14485;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.4712;MLEAC=8,5;MLEAF=0.250,0.156;MQ=56.16;MQRankSum=-5.112e+00;QD=1.18;ReadPosRankSum=4.45;SOR=0.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:531,0,0:531:99:.:.:0,120,1800,120,1800,1800	5	0	7	5
chr11	1017545	1017545	G	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1364	442.71	703	chr11	1017545	.	G	T,*	442.71	.	AC=1,2;AF=0.045,0.091;AN=22;BaseQRankSum=4.31;DP=13837;ExcessHet=0.3300;FS=1.683;InbreedingCoeff=-0.2353;MLEAC=2,3;MLEAF=0.091,0.136;MQ=56.32;MQRankSum=-7.749e+00;QD=0.16;ReadPosRankSum=-5.316e+00;SOR=0.971	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:531,0,0:531:99:.:.:0,120,1800,120,1800,1800	8	0	1	10
chr11	1017552	1017552	T	0	exonic	MUC6	.	.	.	.	.	0	77	100	0	49	149	0.393701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	9377.78	461	chr11	1017552	.	T	C,*	9377.78	.	AC=8,2;AF=0.235,0.059;AN=34;BaseQRankSum=-1.657e+00;DP=12232;ExcessHet=6.1002;FS=0.621;InbreedingCoeff=-0.4000;MLEAC=9,2;MLEAF=0.265,0.059;MQ=58.98;MQRankSum=1.86;QD=1.78;ReadPosRankSum=0.813;SOR=0.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:531,0,0:531:99:.:.:0,120,1800,120,1800,1800	7	0	8	4
chr11	1017575	1017575	C	0	exonic	MUC6	.	.	.	.	.	428	962	29	0	103	132	0.014849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	372.01	446	chr11	1017575	.	C	*,T	372.01	.	AC=1,1;AF=0.063,0.063;AN=16;BaseQRankSum=2.35;DP=12344;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.2537;MLEAC=2,2;MLEAF=0.125,0.125;MQ=58.31;MQRankSum=-1.383e+01;QD=0.29;ReadPosRankSum=-1.882e+00;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:761,0,0:761:0:.:.:0,0,13966,0,13966,13966	6	0	1	13
chr11	1017581	1017581	A	0	exonic	MUC6	.	.	.	.	.	0	166	5	0	55	60	0.0148368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	666.01	446	chr11	1017581	.	A	*,G	666.01	.	AC=1,1;AF=0.063,0.063;AN=16;BaseQRankSum=2.29;DP=12220;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.2537;MLEAC=2,2;MLEAF=0.125,0.125;MQ=58.28;MQRankSum=-1.370e+01;QD=0.51;ReadPosRankSum=-1.325e+00;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:736,0,0:736:0:.:.:0,0,18519,0,18519,18519	6	0	1	13
chr11	1017591	1017591	C	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.G5210T:p.R1737L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.035	B	0.001	B	.	.	1.000	N	0	N	2.2	T	-1.045	T	0.018	T	0.084	-0.967	0.312	-4.14	-5.372	-4.823	0.877	0.010	0.000727863096015	.	.	0.0004	0.0004	0.0001	0.0011	0.0005	0.0003	0	0.0003	0.0002199	34	154602	rs200995870	8.411e-06	5.548e-05	4.686e-06	1.233e-05	8.94e-06	3.5e-06	2.25e-06	3.21e-06	2.11e-06	0	0	0	0	6.741e-05	0	8.94e-06	0	0	7.541e-05	0.0011	0	0.0002	0.0005	0	0	.	.	0	0	0	0	0	0	0	0.0005	0	0	0.202	0.20230	T	0.32	0.19131	T	0.035	0.20614	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.2	0.18570	T	-0.22	0.10480	N	0.065	0.03726	-1.0448	0.15884	T	0.018	0.07659	T	9	0.020752281	0.00484	T	7.28E-4	0.00491	T	0.010	0.01040	.	.	0.112648838833	0.10856	0.17602560398862038	0.17521	0.111390099725	0.12571	0.169283777475	0.00029	T	0.011406	0.10182	T	-0.294597	0.09179	T	-0.660945	0.08202	T	0.113980498499628	0.13831	T	.	.	.	0.0422211	0.06364	0.06979889	0.14751	0.0422211	0.06364	0.06979889	0.14750	-0.27	0.00460	T	.	.	0.075	0.05535	B	.	.	-1.754908	0.00173	0.003	0.41629400901237562	0.03016	0.00941	0.03634	N	AEFDGBCI	0.035454	0.04568	N	-2.95329237501742	0.00001	6.111978e-05	-3.02875641013716	0.00001	6.208062e-05	0.999999999994688	0.74766	0.03846	0.00245	3	0.003223	0.00025	3	0.0	0.00061	3	0.387032	0.06801	2	.	.	2.07	-4.14	0.03628	-2.999000	0.00717	-9.669000	0.00791	-3.175000	0.00114	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3471:0.0999:0.2744:0.2786	0.877	0.01149	825	0.40060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1102.31	446	chr11	1017591	.	C	A	1102.31	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.356;DP=11994;ExcessHet=0.0000;FS=1.133;InbreedingCoeff=-0.2353;MLEAC=2;MLEAF=0.143;MQ=57.40;MQRankSum=-1.505e+01;QD=1.79;ReadPosRankSum=-1.000e+00;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:708,0:708:0:.:.:0,0,14956	6	0	1	14
chr11	1017596	1017596	T	0	exonic	MUC6	.	.	.	.	.	389	572	462	1	98	562	0.288557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3056	13853.16	475	chr11	1017596	.	T	G,*	13853.16	.	AC=9,2;AF=0.250,0.056;AN=36;BaseQRankSum=-3.120e-01;DP=12315;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.4237;MLEAC=10,2;MLEAF=0.278,0.056;MQ=59.48;MQRankSum=0.00;QD=2.25;ReadPosRankSum=0.130;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:716,0,0:716:99:.:.:0,120,1800,120,1800,1800	7	0	9	3
chr11	1017618	1017618	A	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2083	1502.06	470	chr11	1017618	.	A	*,G	1502.06	.	AC=4,1;AF=0.167,0.042;AN=24;BaseQRankSum=-1.730e+00;DP=12933;ExcessHet=1.1607;FS=0.656;InbreedingCoeff=-0.2923;MLEAC=6,1;MLEAF=0.250,0.042;MQ=57.12;MQRankSum=-1.552e+01;QD=0.45;ReadPosRankSum=-2.164e+00;SOR=0.764	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:742,0,0:742:0:.:.:0,0,17391,0,17391,17391	7	0	4	9
chr11	1017618	1017618	A	G	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.T5183C:p.V1728A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.05	B	0.056	B	.	.	1.000	N	-0.895	N	2.26	T	-1.011	T	0.011	T	0.079	-3.136	0.001	-1.99	-5.487	-0.903	1.423	0.009	0.000784335526871	.	.	0.0002	0.0002	9.974e-05	0.0008	0.0002	0.0002	0	0.0001	0.0001423	22	154602	rs771325542	1.709e-06	4.822e-05	3.385e-06	0	0.0001	0	0	.	.	0	0.0001	0	0	0	0	0	0	0	0	0.0062	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.606	0.07791	T	0.05	0.22331	B	0.056	0.26147	B	.	.	.	.	1	0.08975	N	-0.805	0.01590	N	2.26	0.17596	T	0.09	0.05917	N	0.027	0.00571	-1.0109	0.26635	T	0.011	0.04134	T	9	0.010313988	0.00230	T	7.84E-4	0.00588	T	0.009	0.00846	.	.	0.0920862733494	0.08535	0.15508797170922747	0.15429	0.107656789803	0.12148	0.185074135661	0.00150	T	0.010255	0.09278	T	-0.295601	0.09080	T	-0.662387	0.08105	T	0.100785257858674	0.12443	T	.	.	.	0.017920928	0.00315	0.04538112	0.06095	0.017920928	0.00315	0.04538112	0.06094	-3.12	0.11527	T	.	.	0.072	0.04396	B	.	.	-1.046194	0.00708	0.021	0.27223928687474153	0.01341	0.00232	0.01297	N	AEFDGBCI	0.016358	0.00363	N	-2.72768374869058	0.00004	0.0002017786	-2.7868546645432	0.00005	0.0002182202	0.999999999999978	0.74766	0.042966	0.00246	3	0.003223	0.00025	3	0.0	0.00061	3	0.683672	0.66515	0	.	.	0.996	-1.99	0.07047	-6.899000	0.00063	-6.778000	0.01309	-2.766000	0.00193	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2741:0.39:0.1507:0.1853	1.423	0.02177	825	0.40060	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2083	1502.06	470	chr11	1017618	.	A	*,G	1502.06	.	AC=4,1;AF=0.167,0.042;AN=24;BaseQRankSum=-1.730e+00;DP=12933;ExcessHet=1.1607;FS=0.656;InbreedingCoeff=-0.2923;MLEAC=6,1;MLEAF=0.250,0.042;MQ=57.12;MQRankSum=-1.552e+01;QD=0.45;ReadPosRankSum=-2.164e+00;SOR=0.764	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:742,0,0:742:0:.:.:0,0,17391,0,17391,17391	7	0	4	9
chr11	1017619	1017619	C	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1961.18	470	chr11	1017619	.	C	*,G	1961.18	.	AC=4,1;AF=0.100,0.025;AN=40;BaseQRankSum=-7.970e-01;DP=12986;ExcessHet=1.1607;FS=0.656;InbreedingCoeff=-0.1507;MLEAC=4,1;MLEAF=0.100,0.025;MQ=57.12;MQRankSum=-1.551e+01;QD=0.59;ReadPosRankSum=-2.378e+00;SOR=0.770	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:743,0,0:743:99:.:.:0,120,1800,120,1800,1800	15	0	4	1
chr11	1017619	1017619	C	G	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.G5182C:p.V1728L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.136	B	0.085	B	.	.	1.000	N	0	N	2.25	T	-0.970	T	0.017	T	0.071	-1.798	0.009	-1.99	-1.752	-5.547	3.869	0.004	0.000880914591661	.	.	0.0002	0.0002	8.892e-05	0.0007	0.0002	0.0002	0	0.0002	0.0001488	23	154602	rs776923183	1.601e-06	2.244e-05	3.143e-06	0	3.571e-05	2.7e-07	1e-07	.	.	3.571e-05	0	0	0	0	0	0	0	1.57e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.106	0.29688	T	0.691	0.05901	T	0.136	0.27347	B	0.085	0.29395	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.25	0.17761	T	-0.41	0.14000	N	0.072	0.04547	-0.9699	0.37220	T	0.017	0.07140	T	9	0.021094084	0.00498	T	8.81E-4	0.00800	T	0.004	0.00165	0.228	0.15406	0.110078149338	0.10416	0.16479799696447842	0.16399	0.087332336583	0.09842	0.185904532671	0.00161	T	0.025306	0.18949	T	-0.284345	0.10212	T	-0.646218	0.09221	T	0.115778049627493	0.14013	T	.	.	.	0.0501816	0.09025	0.06939536	0.14615	0.0501816	0.09025	0.06939536	0.14614	-0.985	0.00983	T	.	.	0.113	0.22208	B	.	.	-0.830553	0.01048	0.045	0.33187604895552741	0.01963	0.01051	0.03915	N	AEFDGBCI	0.030689	0.03138	N	-1.66755186315791	0.00963	0.04174298	-1.77929018143564	0.00828	0.03696766	0.99999848616586	0.74766	0.042966	0.00246	3	0.003223	0.00025	3	0.0	0.00061	3	0.683672	0.66515	0	.	.	0.996	-1.99	0.07047	-3.035000	0.00699	-2.364000	0.03847	-1.720000	0.00730	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1769:0.4115:0.4116	3.869	0.08535	825	0.40060	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.125	1961.18	470	chr11	1017619	.	C	*,G	1961.18	.	AC=4,1;AF=0.100,0.025;AN=40;BaseQRankSum=-7.970e-01;DP=12986;ExcessHet=1.1607;FS=0.656;InbreedingCoeff=-0.1507;MLEAC=4,1;MLEAF=0.100,0.025;MQ=57.12;MQRankSum=-1.551e+01;QD=0.59;ReadPosRankSum=-2.378e+00;SOR=0.770	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:743,0,0:743:99:.:.:0,120,1800,120,1800,1800	15	0	4	1
chr11	1017620	1017620	T	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2083	1963.06	470	chr11	1017620	.	T	*,C	1963.06	.	AC=4,1;AF=0.167,0.042;AN=24;BaseQRankSum=-3.394e+00;DP=13014;ExcessHet=1.1607;FS=0.656;InbreedingCoeff=-0.2923;MLEAC=6,1;MLEAF=0.250,0.042;MQ=57.12;MQRankSum=-1.551e+01;QD=0.59;ReadPosRankSum=-2.571e+00;SOR=0.770	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:739,0,0:739:0:.:.:0,0,16650,0,16650,16650	7	0	4	9
chr11	1017634	1017636	TTC	-	exonic	MUC6	.	nonframeshift deletion	MUC6:NM_005961:exon31:c.5165_5167del:p.G1722_T1723delinsA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.812e-05	0	0	0.0002	0	4.508e-05	0	0.0001	4.53e-05	7	154602	rs748270489	7.38e-07	0.0003	1.461e-06	0	9.503e-07	0	0	.	.	0	0	0	0	0	0	9.503e-07	0	0	0	5.929e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	5615.29	470	chr11	1017633	.	GTTC	G	5615.29	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-3.543e+00;DP=13298;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=56.77;MQRankSum=-1.552e+01;QD=6.98;ReadPosRankSum=-3.463e+00;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:784,0:784:99:.:.:0,120,1800	19	0	1	1
chr11	1017641	1017644	ACTG	-	exonic	MUC6	.	frameshift deletion	MUC6:NM_005961:exon31:c.5157_5160del:p.S1720Qfs*6,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.912e-07	0.0003	1.561e-06	0	1.01e-06	0	0	.	.	0	0	0	0	0	0	1.01e-06	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	5573.39	470	chr11	1017640	.	TACTG	T	5573.39	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-3.358e+00;DP=13630;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1054;MLEAC=1;MLEAF=0.033;MQ=56.80;MQRankSum=-1.573e+01;QD=6.80;ReadPosRankSum=-2.862e+00;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:828,0:828:0:.:.:0,0,21369	14	0	1	6
chr11	1017650	1017651	GT	-	exonic	MUC6	.	frameshift deletion	MUC6:NM_005961:exon31:c.5150_5151del:p.N1717Tfs*24,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1291169760	0	8.432e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.396e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	5574.94	470	chr11	1017649	.	GGT	G	5574.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.209e+00;DP=13676;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.79;MQRankSum=-1.579e+01;QD=6.80;ReadPosRankSum=-2.665e+00;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:839,0:839:99:.:.:0,120,1800	20	0	1	0
chr11	1017655	1017688	GGGTGATGTTGGTGGTAGAAGTTGAGGTGGCTTC	-	exonic	MUC6	.	frameshift deletion	MUC6:NM_005961:exon31:c.5113_5146del:p.E1705Pfs*11,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.172e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.074e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	7837.94	470	chr11	1017654	.	GGGGTGATGTTGGTGGTAGAAGTTGAGGTGGCTTC	G	7837.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.693e+00;DP=14142;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.11;MQRankSum=-1.764e+01;QD=8.36;ReadPosRankSum=-2.643e+00;SOR=0.700	GT:AD:DP:GQ:PL	0/0:865,0:865:99:0,120,1800	20	0	1	0
chr11	1017655	1017655	G	0	exonic	MUC6	.	.	.	.	.	390	675	445	0	12	457	0.247911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	15394.48	526	chr11	1017655	.	G	A,*	15394.48	.	AC=11,1;AF=0.262,0.024;AN=42;BaseQRankSum=0.846;DP=13673;ExcessHet=9.6308;FS=0.000;InbreedingCoeff=-0.4000;MLEAC=11,1;MLEAF=0.262,0.024;MQ=59.47;MQRankSum=0.935;QD=2.07;ReadPosRankSum=0.561;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:865,0,0:865:99:.:.:0,120,1800,120,1800,1800	9	0	11	0
chr11	1017690	1017690	G	C	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C5111G:p.A1704G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.024	B	0.002	B	.	.	1.000	N	0	N	2.18	T	-0.958	T	0.019	T	0.074	-0.240	2.842	0.043	0.019	0.226	3.413	0.006	0.000736161415103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.371e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.632	0.05121	T	0.241	0.24334	T	0.024	0.19075	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.18	0.18875	T	-0.25	0.11008	N	0.045	0.01740	-0.9582	0.39516	T	0.019	0.08079	T	9	0.042532265	0.03012	T	7.36E-4	0.00491	T	0.006	0.00375	0.193	0.10437	0.137902524267	0.13322	0.10606636652605247	0.10536	0.089128932998	0.10071	0.186072796583	0.00163	T	0.01716	0.14051	T	-0.281296	0.10530	T	-0.641839	0.09536	T	0.0534891185251689	0.06103	T	.	.	.	0.03445902	0.03870	0.048940398	0.07375	0.03445902	0.03870	0.048940398	0.07375	-5.947	0.45833	T	.	.	0.093	0.13830	B	.	.	-0.191785	0.03133	0.503	0.72716869389386618	0.10070	0.05035	0.10820	N	AEFDGBCI	0.029483	0.02791	N	-1.30082013981284	0.03666	0.1641882	-1.34839254636191	0.03825	0.1792046	0.999986139793592	0.51787	0.004792	0.00041	3	0.008208	0.00037	3	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.58	0.043	0.13537	-1.180000	0.03197	-0.070000	0.12310	-0.416000	0.05245	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4359:0.0:0.5641:0.0	3.413	0.06939	825	0.40060	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	5601.98	888	chr11	1017690	.	G	C	5601.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.326e+00;DP=16628;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.92;MQRankSum=-1.631e+01;QD=7.09;ReadPosRankSum=-2.668e+00;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1055,0:1055:99:.:.:0,120,1800	20	0	1	0
chr11	1017692	1017738	ATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGG	-	exonic	MUC6	.	frameshift deletion	MUC6:NM_005961:exon31:c.5063_5109del:p.A1688Gfs*2,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	16762.0	917	chr11	1017691	.	CATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGG	GATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGG,C	16762.0	.	AC=4,1;AF=0.286,0.071;AN=14;BaseQRankSum=-6.300e-02;DP=18038;ExcessHet=1.3000;FS=0.588;InbreedingCoeff=-0.3004;MLEAC=8,2;MLEAF=0.571,0.143;MQ=58.84;MQRankSum=-1.154e+01;QD=5.26;ReadPosRankSum=-2.329e+00;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:1106,0,0:1106:0:.:.:0,0,4065,0,4065,4065	2	0	4	14
chr11	1017891	1017891	G	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4910A:p.A1637E,	.	.	342	893	161	0	126	287	0.0826913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.985	D	0.885	P	.	.	1.000	N	0.345	N	2.22	T	-1.093	T	0.035	T	0.087	0.677	7.621	-1.75	-0.596	-1.666	9.313	0.060	0.00160847877757	.	.	3.335e-05	0	0	0	0.0002	4.536e-05	0	0	.	.	.	.	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0007	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.014	0.53172	D	0.113	0.36901	T	0.985	0.61118	D	0.885	0.62825	P	.	.	.	.	1	0.08975	N	1.3	0.32576	L	2.22	0.18248	T	-0.18	0.09796	N	0.053	0.02462	-1.0932	0.05020	T	0.035	0.15074	T	9	0.102692544	0.18837	T	0.001608	0.02600	T	0.060	0.17295	.	.	0.281780670237	0.27795	0.09278683405377418	0.09210	0.103695909574	0.11733	0.165941432118	0.00020	T	0.020064	0.15863	T	-0.330459	0.06077	T	-0.712458	0.05169	T	0.0870277977061818	0.10862	T	.	.	.	0.080301575	0.18392	0.11164214	0.26933	0.080301575	0.18391	0.11164214	0.26932	-9.307	0.69651	D	.	.	0.118	0.23986	B	.	.	1.309505	0.17126	12.97	0.3105354391461434	0.01730	0.01241	0.04378	N	AEFDGBCI	0.027707	0.02312	N	-0.93578728676145	0.10013	0.4765682	-1.16165150961472	0.06561	0.3162101	0.999990071190048	0.74766	0.675202	0.55065	0	0.606735	0.50208	0	0.67197	0.60751	0	0.264475	0.05362	3	.	.	2.39	-1.75	0.07598	-0.994000	0.03827	-3.104000	0.03058	0.514000	0.23422	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.4593:0.5407	9.313	0.37079	825	0.40060	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	7053.15	335	chr11	1017891	.	GCA	G,TCA	7053.15	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=-2.652e+00;DP=9393;ExcessHet=0.6776;FS=3.414;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=56.21;MQRankSum=-1.089e+01;QD=3.00;ReadPosRankSum=-1.562e+00;SOR=1.070	GT:AD:DP:GQ:PL	0/1:566,60,6:632:99:722,0,23402,2201,23375,26166	17	0	3	0
chr11	1017892	1017892	C	0	exonic	MUC6	.	.	.	.	.	354	873	156	4	135	299	0.0858639	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	3030.61	335	chr11	1017892	.	C	*,G	3030.61	.	AC=3,1;AF=0.079,0.026;AN=38;BaseQRankSum=-1.327e+00;DP=9322;ExcessHet=0.6776;FS=4.471;InbreedingCoeff=-0.1351;MLEAC=3,1;MLEAF=0.079,0.026;MQ=56.21;MQRankSum=-1.086e+01;QD=1.30;ReadPosRankSum=-1.667e+00;SOR=1.123	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:561,59,6:627:99:.:.:697,0,23238,2162,23201,25938	15	0	3	2
chr11	1017980	1017980	G	C	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4821G:p.H1607Q,	.	.	377	1113	31	0	1	32	0.013735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.963	D	0.828	P	.	.	1.000	N	1.59	L	2.29	T	-1.044	T	0.055	T	0.046	-0.833	0.590	-0.544	-0.305	-1.592	3.857	0.018	0.00294131736266	.	.	.	.	.	.	.	.	.	.	.	.	.	rs77536353	0	1.71e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.071	0.35165	T	0.546	0.09555	T	0.963	0.55692	D	0.828	0.59497	P	.	.	.	.	1	0.08975	N	2.125	0.59049	M	2.29	0.17113	T	-0.52	0.16187	N	0.064	0.03613	-1.0438	0.16177	T	0.055	0.23072	T	9	0.11826384	0.22355	T	0.002941	0.06250	T	0.018	0.03083	0.176	0.08257	0.338834610459	0.33488	0.12495968873936728	0.12421	0.089077498397	0.10066	0.168520405889	0.00027	T	0.028716	0.20737	T	-0.37366	0.03413	T	-0.774513	0.02623	T	0.0780681323622793	0.09738	T	.	.	.	0.03696404	0.04647	0.047161993	0.06733	0.03696404	0.04647	0.047161993	0.06733	-7.978	0.60920	D	.	.	0.096	0.15475	B	.	.	0.227088	0.06087	2.531	0.53594529813230063	0.04970	0.02502	0.06989	N	AEFDGBCI	0.045586	0.07473	N	-0.61535458523796	0.18482	0.9599189	-0.889736591911147	0.12336	0.6339777	0.98217000833971	0.30362	0.660377	0.49826	0	0.694456	0.67091	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.39	-0.544	0.11254	-0.991000	0.03839	-20.000000	0.00162	-0.293000	0.06271	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2309:0.2258:0.5434:0.0	3.857	0.08487	825	0.40060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	750.74	261	chr11	1017980	.	G	C	750.74	.	AC=3;AF=0.071;AN=42;BaseQRankSum=3.83;DP=6631;ExcessHet=0.3300;FS=12.893;InbreedingCoeff=-0.0783;MLEAC=3;MLEAF=0.071;MQ=53.95;MQRankSum=-5.417e+00;QD=0.74;ReadPosRankSum=-1.618e+00;SOR=2.433	GT:AD:DP:GQ:PL	0/0:312,0:312:99:0,120,1800	18	0	3	0
chr11	1018226	1018226	T	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	11874.25	178	chr11	1018226	.	T	G,*	11874.25	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=4.07;DP=3953;ExcessHet=20.9642;FS=12.534;InbreedingCoeff=-0.6154;MLEAC=15,1;MLEAF=0.357,0.024;MQ=57.35;MQRankSum=-8.912e+00;QD=3.83;ReadPosRankSum=0.169;SOR=1.148	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:124,30,11:165:99:.:.:886,0,5116,798,4745,5971	5	0	15	0
chr11	1018227	1018227	-	GAGGTTTTG	exonic	MUC6	.	nonframeshift insertion	MUC6:NM_005961:exon31:c.4573_4574insCAAAACCTC:p.S1524_L1525insPKP,	.	.	407	1107	6	0	2	8	0.0027027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1199616524	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	2.072e-05	0.0009	2.702e-05	1.414e-05	6.925e-05	5.51e-06	2.53e-06	5.11e-06	1.91e-06	0	0	6.925e-05	0	0	0	0	3.08e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	76.19	174	chr11	1018227	.	A	AGAGGTTTTG,*	76.19	.	AC=1,2;AF=0.028,0.056;AN=36;BaseQRankSum=-3.980e-01;DP=3891;ExcessHet=0.3300;FS=0.901;InbreedingCoeff=-0.1200;MLEAC=1,2;MLEAF=0.028,0.056;MQ=56.92;MQRankSum=-6.414e+00;QD=0.13;ReadPosRankSum=-1.720e+00;SOR=0.758	GT:AD:DP:GQ:PL	0/0:161,0,0:161:99:0,101,4725,101,4725,4725	15	0	1	3
chr11	1018227	1018227	A	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	76.19	174	chr11	1018227	.	A	AGAGGTTTTG,*	76.19	.	AC=1,2;AF=0.028,0.056;AN=36;BaseQRankSum=-3.980e-01;DP=3891;ExcessHet=0.3300;FS=0.901;InbreedingCoeff=-0.1200;MLEAC=1,2;MLEAF=0.028,0.056;MQ=56.92;MQRankSum=-6.414e+00;QD=0.13;ReadPosRankSum=-1.720e+00;SOR=0.758	GT:AD:DP:GQ:PL	0/0:161,0,0:161:99:0,101,4725,101,4725,4725	15	0	1	3
chr11	1018228	1018228	G	0	exonic	MUC6	.	.	.	.	.	413	954	154	0	1	155	0.0746848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	1624.13	178	chr11	1018228	.	G	*,A	1624.13	.	AC=5,11;AF=0.119,0.262;AN=42;BaseQRankSum=2.18;DP=4019;ExcessHet=20.9642;FS=26.259;InbreedingCoeff=-0.6149;MLEAC=5,11;MLEAF=0.119,0.262;MQ=57.37;MQRankSum=-8.668e+00;QD=0.53;ReadPosRankSum=-1.860e+00;SOR=3.039	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:157,11,0:168:17:.:.:0,17,6660,473,6609,7065	5	0	5	0
chr11	1018239	1018239	-	GACC	exonic	MUC6	.	frameshift insertion	MUC6:NM_005961:exon31:c.4561_4562insGGTC:p.T1521Rfs*17,	.	.	404	1114	4	0	0	4	0.00179211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1257166284	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.582e-06	0.0004	1.287e-05	0	1.474e-05	0	0	.	.	0	0	0	0	0	0	0	1.474e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	59.94	182	chr11	1018239	.	G	GGACC	59.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.350e-01;DP=4006;ExcessHet=0.0000;FS=16.663;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.45;MQRankSum=-6.360e+00;QD=0.26;ReadPosRankSum=2.39;SOR=1.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:172,0:172:99:.:.:0,120,1800	20	0	1	0
chr11	1018241	1018241	-	GTGGCCTTAACTG	exonic	MUC6	.	stopgain	MUC6:NM_005961:exon31:c.4559_4560insCAGTTAAGGCCAC:p.K1520Nfs*3,	.	.	406	1112	4	0	0	4	0.00179533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1463976691	0	6.704e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.57e-06	0.0003	0	1.344e-05	2.407e-05	0	0	.	.	2.407e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	56.94	182	chr11	1018241	.	T	TGTGGCCTTAACTG	56.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.71;DP=4007;ExcessHet=0.0000;FS=16.292;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.46;MQRankSum=-6.379e+00;QD=0.25;ReadPosRankSum=0.083;SOR=1.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:172,0:172:99:.:.:0,120,1800	20	0	1	0
chr11	1018290	1018290	G	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4511T:p.P1504L,	.	.	414	746	107	2	253	364	0.0692452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.0	B	.	.	1.000	N	0	N	2.32	T	-1.013	T	0.014	T	0.033	-1.839	0.009	-4.82	-3.424	-4.810	0.642	0.004	0.00130114034182	.	.	0.0003	0.0006	0.0002	0.0001	0.0005	0.0003	0.0011	0	1.94e-05	3	154602	rs776891354	1.107e-05	3.01e-05	1.651e-05	5.562e-06	2.261e-05	6.55e-06	5.3e-06	8.17e-06	6.48e-06	0	2.261e-05	0	0	0	0	1.361e-05	0	0	0.0001	0.0098	0.0001	9.374e-05	0.0007	5.246e-05	3.934e-05	0.0001	5.226e-05	0.0001	0	0	0	0.0007	0	0	9.554e-05	0	0	0.087	0.32453	T	0.452	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.32	0.16640	T	-0.07	0.08033	N	0.067	0.03956	-1.0134	0.25848	T	0.014	0.05465	T	9	0.022066832	0.00542	T	0.001301	0.01809	T	0.004	0.00165	.	.	0.141422826196	0.13715	0.17699347360380507	0.17618	0.090681263109	0.10232	0.182567775249	0.00120	T	0.011815	0.10487	T	-0.418061	0.01760	T	-0.838292	0.01125	T	0.0714186060218739	0.08849	T	.	.	.	0.023426026	0.01081	0.02954413	0.01305	0.023426026	0.01081	0.02954413	0.01304	-3.396	0.15003	T	.	.	0.071	0.04041	B	.	.	-1.051810	0.00700	0.020	0.59025517677381145	0.06128	0.00427	0.02100	N	AEFDGBI	0.028602	0.02550	N	-2.28884873487817	0.00048	0.002069904	-2.37477325509698	0.00045	0.001973028	0.999941380871367	0.47345	0.69289	0.55638	0	0.550933	0.16991	0	0.517114	0.09559	2	0.508809	0.08732	0	.	.	2.41	-4.82	0.02938	-5.543000	0.00137	-20.000000	0.00162	-5.324000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3114:0.1979:0.3276:0.1631	0.642	0.00759	825	0.40060	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	5589.96	253	chr11	1018290	.	G	A,C	5589.96	.	AC=10,5;AF=0.238,0.119;AN=42;BaseQRankSum=4.42;DP=5021;ExcessHet=17.4423;FS=18.255;InbreedingCoeff=-0.5555;MLEAC=10,5;MLEAF=0.238,0.119;MQ=55.33;MQRankSum=-6.736e+00;QD=1.48;ReadPosRankSum=0.802;SOR=2.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:234,23,22:279:42:.:.:261,0,9756,42,8902,9801	6	0	10	0
chr11	1031202	1031202	C	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon5:c.G541A:p.G181R,	.	.	415	1086	21	0	0	21	0.00957592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.997	D	0.008	U	0.990	D	2.64	M	-0.07	T	-0.020	T	0.373	T	0.415	2.792	15.30	3.66	1.778	6.251	15.755	0.427	.	0.0009	0.00279553	0.0081	0.0004	0.0050	0.0005	0.0666	0.0066	0.0176	0.0068	0.0027102	419	154602	rs139011641	0.0022	0.0022	0.0020	0.0024	0.0159	0.0021	0.0021	0.0132	0.0123	0.0005	0.0014	0.0020	2.651e-05	0.0271	0.0159	0.0008	0.0031	0.0061	0.0030	0.0031	0.0016	0.0044	0.0043	0.0028	0.0027	0.0028	0.0024	7.331e-05	0	0.0017	0.0035	0.0002	0.0282	0.0136	0.0013	0.0038	0.0043	0.023	0.48186	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	0.007972	0.31093	U	0.000000	0.990232	0.41116	D	3.175	0.88760	M	-0.07	0.63738	T	-7.09	0.93950	D	0.471	0.50688	-0.0199	0.81841	T	0.373	0.73197	T	10	0.005497366	0.00121	T	.	.	.	0.427	0.73445	0.749	0.87988	0.802521860083	0.80068	0.8617723739993726	0.86141	0.106557750624	0.12047	0.55417406559	0.46446	T	0.183092	0.53531	T	-0.286525	0.09987	T	-0.182845	0.56258	T	0.191765278577805	0.19948	T	.	.	.	0.33262926	0.55684	0.37870377	0.62942	0.33262926	0.55684	0.37870377	0.62942	-8.624	0.65248	D	.	.	0.240	0.47371	B	.	.	3.293412	0.45176	22.1	0.99634560934350225	0.76264	0.98301	0.81414	D	AEFDBI	0.688841	0.64971	D	0.429867953025855	0.63072	4.534013	0.271884219551687	0.53903	3.557242	0.99998133804765	0.51787	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.66	3.66	0.41111	2.493000	0.44979	1.016000	0.23368	0.527000	0.24520	0.023000	0.19925	0.386000	0.24640	0.018000	0.11154	0.0:1.0:0.0:0.0	15.755	0.77783	835	0.38313	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	rs139011641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	711.11	40	chr11	1031202	.	C	T	711.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.701;DP=821;ExcessHet=0.1072;FS=1.663;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=6.97;ReadPosRankSum=-3.710e-01;SOR=0.509	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,991	19	0	2	0
chr11	1074916	1074916	A	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	399	1112	10	1	0	12	0.00536673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.00159744	0.0041	0	0.0097	0	0	0.0011	0.0208	0.0086	0.0007568	117	154602	rs369470505	0.0006	0.0006	0.0004	0.0007	0.0053	0.0005	0.0005	0.0049	0.0047	3.501e-05	0.0007	4.25e-05	0	0.0001	0.0039	0.0002	0.0009	0.0053	0.0006	0.0006	0.0006	0.0006	0.0031	0.0005	0.0005	0.0020	0.0018	9.624e-05	0	0.0027	0	0	0	0	0.0005	0.0009	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	412.98	34	chr11	1074916	.	A	G	412.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.430e-01;DP=727;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.07;ReadPosRankSum=1.69;SOR=0.765	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,103,1029	20	0	1	0
chr11	1075685	1075685	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	416	1052	54	0	0	54	0.0250232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.00798722	0.0064	0	0.0014	0.0002	0.0008	0.0039	0.0081	0.0364	0.005692	880	154602	rs72652890	0.0054	0.0055	0.0047	0.0062	0.0292	0.0053	0.0053	0.0283	0.0279	0.0005	0.0016	0.0042	0.0009	0.0006	0.0141	0.0043	0.0055	0.0292	0.0032	0.0032	0.0030	0.0033	0.0257	0.0029	0.0029	0.0220	0.0206	0.0006	0.0154	0.0020	0.0060	0.0008	0.0002	0.0102	0.0038	0.0019	0.0257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	3631.68	115	chr11	1075685	.	C	T	3631.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-7.770e-01;DP=922;ExcessHet=0.3300;FS=1.394;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=-1.010e-01;SOR=0.791	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1253	18	0	3	0
chr11	1078482	1078482	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.000399361	0.0003	0.0083	0	0	0	0	0	0	6.47e-05	10	154602	rs374455842	9.876e-05	0.0001	0.0001	9.342e-05	0.0025	8.527e-05	7.992e-05	0.0021	0.0019	0.0025	8.204e-05	0	0	5.892e-05	0	3.606e-05	0.0001	5.023e-05	0.0008	0.0008	0.0009	0.0007	0.0027	0.0007	0.0006	0.0023	0.0021	0.0027	0	0.0002	0	0	0	0	7.35e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1333.98	37	chr11	1078482	.	C	T	1333.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=860;ExcessHet=0.0000;FS=0.816;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.50;ReadPosRankSum=1.75;SOR=0.567	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,102,1530	20	0	1	0
chr11	1082921	1082921	C	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	411	1107	4	0	0	4	0.00180343	.	.	3185156	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.44	T	0.236	B	0.262	B	0.578	N	0.996	N	2.22	M	0.3	T	-0.897	T	0.176	T	0.224	0.754	7.992	1.61	0.736	0.273	9.525	0.181	0.0317529260588	0.0043	0.000998403	0.0040	0.0016	0.0009	0	0.0023	0.0064	0.0023	0.0012	0.0036804	569	154602	rs41442048	0.0046	0.0046	0.0046	0.0045	0.0055	0.0045	0.0044	0.0054	0.0053	0.0007	0.0006	0.0015	0	0.0021	0	0.0055	0.0045	0.0015	0.0032	0.0032	0.0033	0.0030	0.0055	0.0029	0.0028	0.0051	0.0049	0.0008	0.0164	0.0010	0.0017	0	0.0023	0	0.0055	0.0028	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2847.11	34	chr11	1082921	.	C	G	2847.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-9.020e-01;DP=890;ExcessHet=0.1072;FS=0.556;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.03;ReadPosRankSum=0.476;SOR=0.786	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1270	19	0	2	0
chr11	1085182	1085182	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	420	1093	9	0	0	9	0.00410023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.062	B	0.006	B	0.766	N	1.000	N	0.2	N	-1.21	T	-0.671	T	0.423	T	0.082	-0.065	3.684	-0.841	-0.347	0.011	9.763	0.175	0.0470070870377	0.0004	0.000599042	0.0008	0	0.0003	0	0	0.0009	0.0012	0.0017	0.0006274	97	154602	rs375576703	0.0009	0.0009	0.0009	0.0010	0.0020	0.0009	0.0009	0.0017	0.0016	0.0001	0	3.828e-05	7.557e-05	0.0005	0.0007	0.0010	0.0011	0.0020	0.0005	0.0005	0.0006	0.0005	0.0017	0.0004	0.0004	0.0008	0.0006	0.0002	0	6.532e-05	0	0	0.0004	0	0.0009	0.0005	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2859.11	33	chr11	1085182	.	C	T	2859.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.238e+00;DP=958;ExcessHet=0.1072;FS=0.455;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=0.817;SOR=0.747	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1184	19	0	2	0
chr11	1092943	1092943	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.835	P	0.042	U	1.000	N	2.14	M	2.49	T	-1.051	T	0.107	T	0.11	0.404	6.192	3.03	1.722	0.794	9.717	0.074	0.345494250162	0.0008	0.000199681	0.0001	0.0014	8.706e-05	0	0	0	0	0.0001	0.0001229	19	154602	rs201613870	6.295e-05	6.293e-05	7.489e-05	5.09e-05	0.0015	5.229e-05	4.847e-05	0.0011	0.0010	0.0015	6.709e-05	0	5.038e-05	0	0	1.799e-05	0.0001	0.0001	0.0004	0.0004	0.0005	0.0004	0.0014	0.0003	0.0003	0.0011	0.0010	0.0014	0	6.545e-05	0	0.0002	0	0	1.471e-05	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2640.98	34	chr11	1092943	.	C	T	2640.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.38;DP=913;ExcessHet=0.0000;FS=1.071;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=1.65;SOR=0.808	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1324	20	0	1	0
chr11	1095600	1095600	T	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	568	942	10	2	0	14	0.00737619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1222385839	0.0047	0.0034	0.0045	0.0050	0.0150	0.0046	0.0045	0.0118	0.0107	0.0008	0.0083	0.0210	3.364e-05	0.0004	0.0150	0.0040	0.0070	0.0070	0.0043	0.0042	0.0044	0.0042	0.0101	0.0040	0.0039	0.0088	0.0082	0.0011	0	0.0101	0.0201	0	0.0003	0.0368	0.0046	0.0070	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	4219.11	74	chr11	1095600	.	T	A	4219.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.51;DP=2620;ExcessHet=0.1072;FS=2.297;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.88;MQRankSum=0.912;QD=12.34;ReadPosRankSum=0.733;SOR=0.823	GT:AD:DP:GQ:PL	0/1:107,87:194:99:2239,0,2706	19	0	2	0
chr11	1095810	1095810	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	501	1019	1	0	1	2	0.000490436	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1377767551	0.0001	9.815e-05	7.886e-05	0.0001	0.0010	9.058e-05	8.553e-05	0.0008	0.0007	0	0.0005	0	2.937e-05	0	0.0005	2.225e-05	0.0003	0.0010	0.0003	0.0003	0.0003	0.0002	0.0020	0.0002	0.0002	0.0014	0.0012	2.697e-05	0	0.0020	0	0.0002	0	0	4.642e-05	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2260.98	74	chr11	1095810	.	C	A	2260.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=3126;ExcessHet=0.0000;FS=0.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.79;MQRankSum=1.87;QD=10.09;ReadPosRankSum=-2.247e+00;SOR=0.630	GT:AD:DP:GQ:PL	0/0:195,0:195:99:0,120,1800	20	0	1	0
chr11	1095842	1095842	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	510	1010	1	0	1	2	0.000494805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1171530669	0.0008	0.0008	0.0009	0.0008	0.0010	0.0008	0.0008	0.0009	0.0009	6.372e-05	0.0010	0	2.829e-05	5.686e-05	0.0004	0.0009	0.0014	7.614e-05	0.0007	0.0007	0.0007	0.0007	0.0014	0.0006	0.0006	0.0012	0.0011	7.445e-05	0	0.0007	0	0	0	0	0.0014	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2709.98	74	chr11	1095842	.	C	A	2709.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=3089;ExcessHet=0.0000;FS=4.218;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.50;MQRankSum=-1.090e-01;QD=13.97;ReadPosRankSum=0.193;SOR=0.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:195,0:195:99:.:.:0,120,1800	20	0	1	0
chr11	1095935	1095935	A	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	564	957	1	0	0	1	0.000522193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1306026835	0.0001	0.0005	0.0001	0.0001	0.0004	0.0001	0.0001	0.0002	0.0002	0.0003	0.0004	0.0001	0.0004	0.0002	0	0.0001	0.0002	5.871e-05	0.0003	0.0006	0.0002	0.0004	0.0006	0.0002	0.0002	0.0002	0.0002	0.0005	0	0.0004	0	0.0005	0	0	0.0002	0.0011	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1916.98	74	chr11	1095935	.	A	T	1916.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.06;DP=3181;ExcessHet=0.0000;FS=50.147;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.95;MQRankSum=-2.209e+00;QD=6.56;ReadPosRankSum=-4.392e+00;SOR=2.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:228,64:292:99:0|1:1095935_A_T:1931,0,8373:1095935	20	0	1	0
chr11	1095938	1096006	ACACCCATCACCACCACCACCATGGTGACCCCAACCCCAACACCCACTGGAACACAGACCCAAACCCCA	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	571	950	1	0	0	1	0.000526039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.219e-05	6.392e-05	1.509e-05	9.232e-06	0.0001	7.22e-06	5.84e-06	3.949e-05	2.351e-05	0	5.846e-05	0	0.0001	0	0	6.855e-06	3.669e-05	1.293e-05	2.826e-05	0.0001	0	5.98e-05	3.728e-05	7.51e-06	4.08e-06	6.18e-06	2.31e-06	0	0	0	0	0	0.0002	0	3.728e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1871.94	74	chr11	1095937	.	GACACCCATCACCACCACCACCATGGTGACCCCAACCCCAACACCCACTGGAACACAGACCCAAACCCCA	G	1871.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=3291;ExcessHet=0.0000;FS=29.906;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.32;MQRankSum=-4.233e+00;QD=4.75;ReadPosRankSum=-5.337e+00;SOR=1.504	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:322,72:394:99:0|1:1095935_A_T:1886,0,12157:1095935	20	0	1	0
chr11	1095948	1095948	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	143278.47	224	chr11	1095948	.	C	G,*	143278.47	.	AC=40,1;AF=0.952,0.024;AN=42;BaseQRankSum=1.49;DP=4120;ExcessHet=0.0000;FS=1.823;InbreedingCoeff=-0.0244;MLEAC=40,1;MLEAF=0.952,0.024;MQ=54.83;MQRankSum=1.39;QD=32.74;ReadPosRankSum=1.46;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:11,193,72:276:99:1|0:1095935_A_T:9516,2620,2222,6923,0,8105:1095935	0	19	1	0
chr11	1095985	1095985	T	C	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1370553972	2.74e-05	7.095e-05	1.851e-05	3.655e-05	6.294e-05	1.989e-05	1.761e-05	1.796e-05	1.525e-05	0	6.294e-05	0	0	3.276e-05	0	2.581e-05	5.713e-05	4.282e-05	0.0005	0.0013	0.0006	0.0004	0.0008	0.0004	0.0003	0.0002	0.0002	0.0005	0	0.0005	0.0014	0.0008	0.0015	0	0.0004	0.0015	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02632	700.72	209	chr11	1095985	.	T	C	700.72	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.06;DP=3750;ExcessHet=0.0000;FS=52.922;InbreedingCoeff=-0.0500;MLEAC=1;MLEAF=0.026;MQ=56.70;MQRankSum=-1.164e+01;QD=2.85;ReadPosRankSum=-5.722e+00;SOR=3.670	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:242,0:242:0:.:.:0,0,3322	18	0	1	2
chr11	1095988	1095988	A	C	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1364549576	6.333e-05	0.0008	4.617e-05	8.105e-05	0.0004	5.192e-05	4.749e-05	0.0002	0.0002	0.0003	0.0004	4.386e-05	0.0001	0.0001	0	4.45e-05	3.811e-05	7.277e-05	0.0012	0.0041	0.0011	0.0014	0.0037	0.0010	0.0009	0.0020	0.0016	0.0021	0	0.0037	0.0008	0.0032	0.0023	0	0.0005	0.0018	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02632	907.72	209	chr11	1095988	.	A	C	907.72	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.68;DP=3756;ExcessHet=0.0000;FS=47.876;InbreedingCoeff=-0.0500;MLEAC=1;MLEAF=0.026;MQ=56.65;MQRankSum=-1.228e+01;QD=3.60;ReadPosRankSum=-6.270e+00;SOR=3.195	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:242,0:242:0:.:.:0,0,3322	18	0	1	2
chr11	1095999	1095999	A	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	158783.66	219	chr11	1095999	.	A	T,C,*	158783.66	.	AC=40,1,1;AF=0.952,0.024,0.024;AN=42;BaseQRankSum=0.638;DP=4365;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,1,1;MLEAF=0.952,0.024,0.024;MQ=58.57;MQRankSum=11.29;QD=24.86;ReadPosRankSum=-1.695e+00;SOR=0.380	GT:AD:DP:GQ:PGT:PID:PL:PS	1|3:0,193,0,72:265:99:1|0:1095935_A_T:9707,2826,2247,9885,2843,10455,7077,0,7786,8098:1095935	0	19	0	0
chr11	1096003	1096003	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219021202	2.945e-05	4.76e-05	2.827e-05	3.064e-05	7.393e-05	2.017e-05	1.728e-05	1.617e-05	1.334e-05	5.237e-05	3.24e-05	5.34e-05	7.393e-05	7.469e-05	0	2.588e-05	5.156e-05	0	4.623e-05	8.097e-05	2.929e-05	6.505e-05	6.58e-05	1.227e-05	6.4e-06	1.009e-05	3.77e-06	6.58e-05	0	0	0	0	0	0	6.093e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05	1950.71	296	chr11	1096003	.	C	A	1950.71	.	AC=1;AF=0.050;AN=20;BaseQRankSum=8.42;DP=4741;ExcessHet=0.0000;FS=37.651;InbreedingCoeff=-0.1831;MLEAC=2;MLEAF=0.100;MQ=56.77;MQRankSum=-1.234e+01;QD=6.94;ReadPosRankSum=-5.558e+00;SOR=2.380	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:253,0:253:0:.:.:0,0,3278	9	0	1	11
chr11	1096004	1096004	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	519	1002	0	1	0	2	0.000997009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1488834233	3.054e-05	3.576e-05	2.394e-05	3.712e-05	8.565e-05	2.033e-05	1.698e-05	2.897e-05	1.745e-05	6.59e-05	0	6.122e-05	3.947e-05	8.028e-05	0	2.319e-05	3.047e-05	8.565e-05	1.917e-05	1.374e-05	0	4.04e-05	8.807e-05	0	0	.	.	8.807e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05	2058.71	296	chr11	1096004	.	C	T	2058.71	.	AC=1;AF=0.050;AN=20;BaseQRankSum=5.17;DP=4743;ExcessHet=0.0000;FS=36.721;InbreedingCoeff=-0.1831;MLEAC=2;MLEAF=0.100;MQ=56.80;MQRankSum=-1.200e+01;QD=7.27;ReadPosRankSum=-5.378e+00;SOR=2.332	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:253,0:253:0:.:.:0,0,3278	9	0	1	11
chr11	1096006	1096006	A	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1314453956	0.0002	0.0006	0.0002	0.0001	0.0004	0.0001	0.0001	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	9.74e-05	0	0.0001	0.0004	2.843e-05	0.0005	0.0021	0.0003	0.0007	0.0027	0.0003	0.0002	0.0012	0.0008	0.0007	0	0.0027	0	0	0	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05	2323.71	311	chr11	1096006	.	A	G	2323.71	.	AC=1;AF=0.050;AN=20;BaseQRankSum=2.46;DP=4883;ExcessHet=0.0000;FS=19.420;InbreedingCoeff=-0.1831;MLEAC=2;MLEAF=0.100;MQ=56.52;MQRankSum=-1.207e+01;QD=7.93;ReadPosRankSum=-6.051e+00;SOR=1.600	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:253,0:253:0:.:.:0,0,3278	9	0	1	11
chr11	1096086	1096086	G	0	exonic	MUC2	.	.	.	.	.	566	673	252	7	24	290	0.165012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	16587.35	478	chr11	1096086	.	G	C,*	16587.35	.	AC=7,4;AF=0.167,0.095;AN=42;BaseQRankSum=-3.100e-01;DP=7824;ExcessHet=0.0338;FS=4.192;InbreedingCoeff=0.3842;MLEAC=7,4;MLEAF=0.167,0.095;MQ=56.40;MQRankSum=3.42;QD=7.73;ReadPosRankSum=-7.470e-01;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:442,0,0:442:99:.:.:0,120,1800,120,1800,1800	13	0	4	0
chr11	1096111	1096111	A	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	79.85	480	chr11	1096111	.	A	*,C	79.85	.	AC=2,1;AF=0.053,0.026;AN=38;BaseQRankSum=0.357;DP=8504;ExcessHet=0.0000;FS=3.212;InbreedingCoeff=0.4474;MLEAC=2,1;MLEAF=0.053,0.026;MQ=54.72;MQRankSum=-8.541e+00;QD=0.39;ReadPosRankSum=2.52;SOR=0.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:502,0,0:502:99:.:.:0,120,1800,120,1800,1800	17	0	1	2
chr11	1096114	1096114	A	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	72.85	463	chr11	1096114	.	A	*,T	72.85	.	AC=2,1;AF=0.053,0.026;AN=38;BaseQRankSum=0.462;DP=8511;ExcessHet=0.0000;FS=4.009;InbreedingCoeff=0.4474;MLEAC=2,1;MLEAF=0.053,0.026;MQ=54.60;MQRankSum=-8.585e+00;QD=0.36;ReadPosRankSum=2.34;SOR=0.476	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:502,0,0:502:99:.:.:0,120,1800,120,1800,1800	17	0	1	2
chr11	1096114	1096114	A	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.481e-05	0.0001	1.131e-05	1.845e-05	3.372e-05	9.26e-06	7.64e-06	1.004e-05	8.12e-06	3.372e-05	0	4.782e-05	0	0	0	1.695e-05	0	0	6.947e-05	0.0002	5.422e-05	8.551e-05	0.0003	3.706e-05	2.854e-05	9.37e-05	5.583e-05	2.502e-05	0	0.0003	0	0	0	0	6.238e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05263	72.85	463	chr11	1096114	.	A	*,T	72.85	.	AC=2,1;AF=0.053,0.026;AN=38;BaseQRankSum=0.462;DP=8511;ExcessHet=0.0000;FS=4.009;InbreedingCoeff=0.4474;MLEAC=2,1;MLEAF=0.053,0.026;MQ=54.60;MQRankSum=-8.585e+00;QD=0.36;ReadPosRankSum=2.34;SOR=0.476	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:502,0,0:502:99:.:.:0,120,1800,120,1800,1800	17	0	1	2
chr11	1096123	1096123	C	0	exonic	MUC2	.	.	.	.	.	478	865	169	4	6	183	0.0928159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	13067.43	463	chr11	1096123	.	C	*,T	13067.43	.	AC=2,6;AF=0.050,0.150;AN=40;BaseQRankSum=0.051;DP=8687;ExcessHet=0.0303;FS=1.783;InbreedingCoeff=0.3363;MLEAC=2,6;MLEAF=0.050,0.150;MQ=56.41;MQRankSum=2.66;QD=7.92;ReadPosRankSum=0.268;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:502,0,0:502:99:.:.:0,120,1800,120,1800,1800	14	0	0	1
chr11	1096140	1096140	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	620.81	463	chr11	1096140	.	C	*,CAT	620.81	.	AC=2,1;AF=0.053,0.026;AN=38;BaseQRankSum=1.11;DP=8549;ExcessHet=0.0000;FS=0.959;InbreedingCoeff=0.4474;MLEAC=2,1;MLEAF=0.053,0.026;MQ=55.11;MQRankSum=1.21;QD=2.33;ReadPosRankSum=1.58;SOR=0.620	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:502,0,0:502:99:.:.:0,120,1800,120,1800,1800	17	0	1	2
chr11	1096140	1096140	-	AT	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0007	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	6.707e-05	3.157e-05	0.0002	0	0.0004	0.0002	0.0002	0.0002	1.361e-05	0.0002	0.0006	0.0001	0.0002	0.0004	0.0001	9.498e-05	0.0002	0.0001	4.865e-05	0	0.0004	0	0	0.0002	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	620.81	463	chr11	1096140	.	C	*,CAT	620.81	.	AC=2,1;AF=0.053,0.026;AN=38;BaseQRankSum=1.11;DP=8549;ExcessHet=0.0000;FS=0.959;InbreedingCoeff=0.4474;MLEAC=2,1;MLEAF=0.053,0.026;MQ=55.11;MQRankSum=1.21;QD=2.33;ReadPosRankSum=1.58;SOR=0.620	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:502,0,0:502:99:.:.:0,120,1800,120,1800,1800	17	0	1	2
chr11	1096141	1096168	CCTGACACCCATCACCACCACCACTACG	0	exonic	MUC2	.	.	.	.	.	463	999	52	0	8	60	0.0253659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	11410.69	566	chr11	1096141	.	CCTGACACCCATCACCACCACCACTACG	C,*,CGACACCCATCACCACCACCACTACG	11410.69	.	AC=5,2,1;AF=0.125,0.050,0.025;AN=40;BaseQRankSum=0.837;DP=9083;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0413;MLEAC=5,2,1;MLEAF=0.125,0.050,0.025;MQ=56.99;MQRankSum=-2.825e+00;QD=4.13;ReadPosRankSum=0.431;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:502,0,0,0:502:99:.:.:0,120,1800,120,1800,1800,120,1800,1800,1800	13	0	5	1
chr11	1096142	1096143	CT	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0007	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	3.152e-05	0.0001	0	0.0005	0.0002	0.0002	0.0003	2.72e-05	0.0002	0.0007	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	7.632e-05	0	0.0004	0	0.0002	0.0002	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	11410.69	566	chr11	1096141	.	CCTGACACCCATCACCACCACCACTACG	C,*,CGACACCCATCACCACCACCACTACG	11410.69	.	AC=5,2,1;AF=0.125,0.050,0.025;AN=40;BaseQRankSum=0.837;DP=9083;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0413;MLEAC=5,2,1;MLEAF=0.125,0.050,0.025;MQ=56.99;MQRankSum=-2.825e+00;QD=4.13;ReadPosRankSum=0.431;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:502,0,0,0:502:99:.:.:0,120,1800,120,1800,1800,120,1800,1800,1800	13	0	5	1
chr11	1096143	1096212	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	.	508	767	11	0	236	247	0.00711974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	37726.02	456	chr11	1096143	.	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	T,*	37726.02	.	AC=12,8;AF=0.286,0.190;AN=42;BaseQRankSum=2.69;DP=11682;ExcessHet=26.8223;FS=0.000;InbreedingCoeff=-0.7182;MLEAC=12,8;MLEAF=0.286,0.190;MQ=57.74;MQRankSum=-5.520e+00;QD=5.63;ReadPosRankSum=-1.130e+00;SOR=0.704	GT:AD:DP:GQ:PL	0/1:268,152,0:420:99:3563,0,10390,4373,10895,15268	2	0	12	0
chr11	1096155	1096155	C	0	exonic	MUC2	.	.	.	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	2478.81	456	chr11	1096155	.	C	*,G	2478.81	.	AC=17,2;AF=0.425,0.050;AN=40;BaseQRankSum=1.10;DP=11237;ExcessHet=40.9761;FS=0.000;InbreedingCoeff=-0.8455;MLEAC=18,2;MLEAF=0.450,0.050;MQ=56.37;MQRankSum=-1.489e+00;QD=0.42;ReadPosRankSum=-3.800e+00;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:268,152,0:420:99:.:.:3563,0,10390,4373,10895,15268	1	0	17	1
chr11	1096155	1096155	C	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362776823	0.0019	0.0052	0.0019	0.0019	0.0094	0.0018	0.0018	0.0083	0.0079	0.0094	0.0017	0.0027	6.019e-05	0.0067	0.0025	0.0016	0.0033	0.0002	0.0022	0.0038	0.0019	0.0025	0.0061	0.0020	0.0019	0.0054	0.0051	0.0061	0	0.0010	0.0004	0	0.0006	0	0.0006	0.0032	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.475	2478.81	456	chr11	1096155	.	C	*,G	2478.81	.	AC=17,2;AF=0.425,0.050;AN=40;BaseQRankSum=1.10;DP=11237;ExcessHet=40.9761;FS=0.000;InbreedingCoeff=-0.8455;MLEAC=18,2;MLEAF=0.450,0.050;MQ=56.37;MQRankSum=-1.489e+00;QD=0.42;ReadPosRankSum=-3.800e+00;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:268,152,0:420:99:.:.:3563,0,10390,4373,10895,15268	1	0	17	1
chr11	1096170	1096212	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	.	1	116	21	0	88	109	0.083004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	5334.59	473	chr11	1096170	.	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*,T	5334.59	.	AC=10,4;AF=0.313,0.125;AN=32;BaseQRankSum=2.94;DP=10251;ExcessHet=15.6281;FS=0.000;InbreedingCoeff=-0.6141;MLEAC=12,5;MLEAF=0.375,0.156;MQ=57.71;MQRankSum=-5.342e+00;QD=1.04;ReadPosRankSum=-1.810e+00;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:268,152,0:420:99:.:.:3563,0,10390,4373,10895,15268	2	0	10	5
chr11	1096180	1096180	C	0	exonic	MUC2	.	.	.	.	.	532	749	62	4	175	245	0.0446429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5333	9964.82	473	chr11	1096180	.	C	A,*	9964.82	.	AC=3,13;AF=0.100,0.433;AN=30;BaseQRankSum=1.20;DP=9719;ExcessHet=11.8260;FS=0.000;InbreedingCoeff=-0.6114;MLEAC=4,16;MLEAF=0.133,0.533;MQ=55.18;MQRankSum=-5.213e+00;QD=2.11;ReadPosRankSum=-3.960e-01;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:236,0,152:389:99:0|1:1096178_ACC_A:5426,5734,16238,0,9955,9255:1096178	0	1	1	6
chr11	1096181	1096181	C	0	exonic	MUC2	.	.	.	.	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4643	3441.94	473	chr11	1096181	.	C	*,G	3441.94	.	AC=11,2;AF=0.393,0.071;AN=28;BaseQRankSum=0.590;DP=9622;ExcessHet=13.8672;FS=0.000;InbreedingCoeff=-0.5837;MLEAC=14,3;MLEAF=0.500,0.107;MQ=56.12;MQRankSum=-2.654e+00;QD=0.82;ReadPosRankSum=0.675;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:236,152,0:388:99:.:.:3649,0,9299,4853,8536,14320	1	0	11	7
chr11	1096181	1096181	C	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0051	0.0024	0.0025	0.0031	0.0023	0.0023	0.0022	0.0022	0.0004	0.0017	0.0035	0	0.0156	0.0031	0.0023	0.0036	0.0004	0.0006	0.0013	0.0007	0.0006	0.0010	0.0005	0.0005	0.0008	0.0007	5.841e-05	0	0.0007	0.0008	0	0.0011	0	0.0010	0.0012	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4643	3441.94	473	chr11	1096181	.	C	*,G	3441.94	.	AC=11,2;AF=0.393,0.071;AN=28;BaseQRankSum=0.590;DP=9622;ExcessHet=13.8672;FS=0.000;InbreedingCoeff=-0.5837;MLEAC=14,3;MLEAF=0.500,0.107;MQ=56.12;MQRankSum=-2.654e+00;QD=0.82;ReadPosRankSum=0.675;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:236,152,0:388:99:.:.:3649,0,9299,4853,8536,14320	1	0	11	7
chr11	1096211	1096211	A	0	exonic	MUC2	.	.	.	.	.	606	732	15	0	169	184	0.010142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3281.3	481	chr11	1096211	.	A	*,C	3281.3	.	AC=11,2;AF=0.423,0.077;AN=26;BaseQRankSum=0.723;DP=9206;ExcessHet=15.1749;FS=0.000;InbreedingCoeff=-0.6204;MLEAC=15,3;MLEAF=0.577,0.115;MQ=57.49;MQRankSum=-5.247e+00;QD=0.68;ReadPosRankSum=2.33;SOR=0.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:265,152,0:418:99:0|1:1096178_ACC_A:5416,0,10282,6242,11413,19790:1096178	0	0	11	8
chr11	1096212	1096212	C	0	exonic	MUC2	.	.	.	.	.	603	738	12	0	169	181	0.00806452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3283.99	481	chr11	1096212	.	C	*,T	3283.99	.	AC=8,2;AF=0.400,0.100;AN=20;BaseQRankSum=1.36;DP=8921;ExcessHet=7.5380;FS=0.539;InbreedingCoeff=-0.5140;MLEAC=12,3;MLEAF=0.600,0.150;MQ=56.42;MQRankSum=-3.744e+00;QD=0.91;ReadPosRankSum=4.45;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:265,152,0:418:99:0|1:1096178_ACC_A:5416,0,10282,6242,11413,19790:1096178	0	0	8	11
chr11	1096212	1096212	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	603	738	12	0	169	181	0.00806452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1400696229	0.0042	0.0094	0.0040	0.0044	0.0105	0.0040	0.0039	0.0063	0.0057	0.0078	0.0031	0.0092	0.0039	0.0418	0.0105	0.0037	0.0060	0.0014	0.0038	0.0063	0.0033	0.0042	0.0040	0.0032	0.0030	0.0032	0.0029	0.0039	0	0.0038	0.0018	0.0024	0.0035	0	0.0040	0.0049	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	3283.99	481	chr11	1096212	.	C	*,T	3283.99	.	AC=8,2;AF=0.400,0.100;AN=20;BaseQRankSum=1.36;DP=8921;ExcessHet=7.5380;FS=0.539;InbreedingCoeff=-0.5140;MLEAC=12,3;MLEAF=0.600,0.150;MQ=56.42;MQRankSum=-3.744e+00;QD=0.91;ReadPosRankSum=4.45;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:265,152,0:418:99:0|1:1096178_ACC_A:5416,0,10282,6242,11413,19790:1096178	0	0	8	11
chr11	1096374	1096374	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	573	938	11	0	0	11	0.00582936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1486501087	0.0007	0.0036	0.0006	0.0008	0.0011	0.0007	0.0006	0.0008	0.0008	0.0001	0.0004	0.0005	0.0001	0.0024	0.0011	0.0007	0.0009	0.0010	0.0008	0.0014	0.0006	0.0009	0.0013	0.0006	0.0006	0.0009	0.0008	0.0002	0	0.0009	0.0003	0	0.0011	0	0.0011	0.0005	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1213.98	285	chr11	1096374	.	C	T	1213.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.573e+00;DP=5612;ExcessHet=0.0000;FS=5.069;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.52;MQRankSum=-2.721e+00;QD=3.53;ReadPosRankSum=-2.292e+00;SOR=1.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:320,0:320:99:.:.:0,120,1800	20	0	1	0
chr11	1096594	1096594	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	524	971	22	3	2	30	0.0142132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1449616483	0.0049	0.0047	0.0045	0.0054	0.0217	0.0048	0.0048	0.0208	0.0205	0.0007	0.0029	0.0078	0.0001	0.0020	0.0214	0.0039	0.0059	0.0217	0.0029	0.0034	0.0027	0.0032	0.0187	0.0027	0.0026	0.0150	0.0136	0.0007	0	0.0039	0.0058	0	0.0029	0.0248	0.0029	0.0074	0.0187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	4493.11	106	chr11	1096594	.	C	A	4493.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.553;DP=2712;ExcessHet=0.1072;FS=1.107;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=57.56;MQRankSum=-8.960e-01;QD=10.60;ReadPosRankSum=-6.600e-02;SOR=0.609	GT:AD:DP:GQ:PL	0/0:181,0:181:99:0,120,1800	19	0	2	0
chr11	1096606	1096606	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	563	945	12	0	2	14	0.00630915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1222095683	0.0067	0.0063	0.0067	0.0066	0.0077	0.0066	0.0065	0.0076	0.0075	0.0010	0.0023	0.0046	0.0003	0.0011	0.0074	0.0077	0.0049	0.0040	0.0041	0.0052	0.0042	0.0040	0.0066	0.0037	0.0036	0.0060	0.0057	0.0011	0.0017	0.0032	0.0044	0.0015	0.0009	0.0072	0.0066	0.0015	0.0030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2933.98	106	chr11	1096606	.	C	T	2933.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.607;DP=2479;ExcessHet=0.0000;FS=1.134;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.16;MQRankSum=1.67;QD=14.97;ReadPosRankSum=-7.240e-01;SOR=0.801	GT:AD:DP:GQ:PL	0/0:181,0:181:99:0,120,1800	20	0	1	0
chr11	1096645	1096645	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	692	825	4	1	0	6	0.00362319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1198884028	0.0009	0.0007	0.0005	0.0012	0.0107	0.0008	0.0008	0.0100	0.0098	7.623e-05	0.0001	0	3.448e-05	0	0.0027	0.0001	0.0007	0.0107	7.443e-05	0.0004	9.884e-05	4.983e-05	0.0025	1.973e-05	1.047e-05	0.0004	0.0002	0	0	0	0	0	0	0	5.081e-05	0	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	1019.33	106	chr11	1096645	.	C	A	1019.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.489e+00;DP=2338;ExcessHet=0.0000;FS=0.769;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=54.50;MQRankSum=0.852;QD=10.73;ReadPosRankSum=-4.440e-01;SOR=0.786	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:181,0:181:99:.:.:0,120,1800	19	0	1	1
chr11	1096649	1096825	ACGGTGACCCCAACCTCAACACCCACCGGCACACAGACCCCAACCCCGACACCCATCTCCACCACCACTACGGTGACCCCAACCCCGACACCCATCTCCACCACCACTACAGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCATGACACCCATCACCACCACCACC	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0004	0.0005	0.0005	0.0065	0.0005	0.0004	0.0057	0.0053	0.0007	0.0005	0.0010	0.0065	0.0003	0.0003	0.0003	0.0006	0.0002	0.0003	0.0002	0.0001	0.0005	0.0007	0.0001	8.573e-05	4.334e-05	1.805e-05	0.0003	0	0.0007	0	0	0.0014	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	77.31	106	chr11	1096648	.	TACGGTGACCCCAACCTCAACACCCACCGGCACACAGACCCCAACCCCGACACCCATCTCCACCACCACTACGGTGACCCCAACCCCGACACCCATCTCCACCACCACTACAGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCATGACACCCATCACCACCACCACC	T	77.31	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.19;DP=2331;ExcessHet=0.0000;FS=16.010;InbreedingCoeff=-0.0386;MLEAC=1;MLEAF=0.025;MQ=53.10;MQRankSum=10.35;QD=0.47;ReadPosRankSum=-8.199e+00;SOR=0.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:181,0:181:99:.:.:0,120,1800	19	0	1	1
chr11	1096650	1096650	C	0	exonic	MUC2	.	.	.	.	.	8	102	82	32	2	148	0.417143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	15758.34	106	chr11	1096650	.	C	T,*	15758.34	.	AC=9,1;AF=0.225,0.025;AN=40;BaseQRankSum=3.24;DP=2340;ExcessHet=0.0097;FS=1.183;InbreedingCoeff=0.4232;MLEAC=9,1;MLEAF=0.225,0.025;MQ=53.80;MQRankSum=-1.435e+00;QD=20.23;ReadPosRankSum=0.795;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:181,0,0:181:99:.:.:0,120,1800,120,1800,1800	13	3	3	1
chr11	1096664	1096664	T	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	61688.6	93	chr11	1096664	.	T	C,*	61688.6	.	AC=40,2;AF=0.952,0.048;AN=42;DP=2147;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=53.76;QD=30.39;SOR=1.458	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,193,0:193:99:.:.:4611,472,0,4835,483,5397	0	19	0	0
chr11	1096735	1096735	G	0	exonic	MUC2	.	.	.	.	.	77	124	16	7	2	32	0.107914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	1024.05	19	chr11	1096735	.	G	*,A	1024.05	.	AC=1,7;AF=0.056,0.389;AN=18;BaseQRankSum=2.66;DP=578;ExcessHet=6.7594;FS=42.548;InbreedingCoeff=-0.2647;MLEAC=2,11;MLEAF=0.111,0.611;MQ=49.97;MQRankSum=-7.400e-01;QD=5.25;ReadPosRankSum=0.358;SOR=1.548	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:24,0,0:24:0:.:.:0,0,0,0,0,0	1	0	1	12
chr11	1096742	1096745	ATCT	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	123.76	27	chr11	1096742	.	ATCT	A,*	123.76	.	AC=1,1;AF=0.026,0.026;AN=38;BaseQRankSum=2.76;DP=634;ExcessHet=0.1190;FS=6.474;InbreedingCoeff=0.2614;MLEAC=1,1;MLEAF=0.026,0.026;MQ=54.35;MQRankSum=8.93;QD=0.97;ReadPosRankSum=2.73;SOR=1.141	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:26,0,0:26:51:.:.:0,51,765,51,765,765	17	0	1	2
chr11	1096743	1096743	T	C	exonic	MUC2	.	unknown	UNKNOWN,	.	.	924	586	6	0	6	12	0.00509338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0052	0.0026	0.0024	0.0059	0.0023	0.0023	0.0041	0.0038	0.0056	0.0031	0.0026	0.0059	0.0052	0.0046	0.0020	0.0024	0.0050	0	0.0010	0	0	.	0	0	.	.	0	.	0	0	0	0	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1667	203.35	26	chr11	1096743	.	T	C,*	203.35	.	AC=1,2;AF=0.056,0.111;AN=18;BaseQRankSum=3.41;DP=638;ExcessHet=0.3672;FS=16.536;InbreedingCoeff=-0.1805;MLEAC=2,4;MLEAF=0.111,0.222;MQ=41.03;MQRankSum=-5.050e-01;QD=1.38;ReadPosRankSum=-2.728e+00;SOR=1.271	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:26,0,0:26:0:.:.:0,0,204,0,204,204	6	0	1	12
chr11	1096743	1096743	T	0	exonic	MUC2	.	.	.	.	.	924	586	6	0	6	12	0.00509338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	203.35	26	chr11	1096743	.	T	C,*	203.35	.	AC=1,2;AF=0.056,0.111;AN=18;BaseQRankSum=3.41;DP=638;ExcessHet=0.3672;FS=16.536;InbreedingCoeff=-0.1805;MLEAC=2,4;MLEAF=0.111,0.222;MQ=41.03;MQRankSum=-5.050e-01;QD=1.38;ReadPosRankSum=-2.728e+00;SOR=1.271	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:26,0,0:26:0:.:.:0,0,204,0,204,204	6	0	1	12
chr11	1096745	1096745	T	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0002	0.0002	0.0001	0.0022	0.0001	0.0001	0.0012	0.0009	0.0022	0.0002	0	0	0.0005	0.0014	9.592e-05	0.0002	0.0001	0	5.35e-05	0	0	.	0	0	.	.	0	.	0	0	0	0	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1667	202.48	32	chr11	1096745	.	T	G,*	202.48	.	AC=1,2;AF=0.056,0.111;AN=18;BaseQRankSum=3.10;DP=647;ExcessHet=0.3672;FS=8.093;InbreedingCoeff=-0.1514;MLEAC=2,4;MLEAF=0.111,0.222;MQ=40.71;MQRankSum=-2.443e+00;QD=1.38;ReadPosRankSum=-2.505e+00;SOR=1.345	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:26,0,0:26:0:.:.:0,0,197,0,197,197	6	0	1	12
chr11	1096745	1096745	T	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	202.48	32	chr11	1096745	.	T	G,*	202.48	.	AC=1,2;AF=0.056,0.111;AN=18;BaseQRankSum=3.10;DP=647;ExcessHet=0.3672;FS=8.093;InbreedingCoeff=-0.1514;MLEAC=2,4;MLEAF=0.111,0.222;MQ=40.71;MQRankSum=-2.443e+00;QD=1.38;ReadPosRankSum=-2.505e+00;SOR=1.345	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:26,0,0:26:0:.:.:0,0,197,0,197,197	6	0	1	12
chr11	1096746	1096746	C	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0002	0.0001	9.388e-05	0.0016	9.128e-05	8.14e-05	0.0009	0.0007	0.0016	0.0001	0	0	0.0001	0.0009	8.058e-05	0.0002	7.458e-05	0	9.879e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05556	160.56	32	chr11	1096746	.	C	G	160.56	.	AC=1;AF=0.056;AN=18;BaseQRankSum=3.03;DP=655;ExcessHet=0.0000;FS=8.929;InbreedingCoeff=0.0408;MLEAC=2;MLEAF=0.111;MQ=40.75;MQRankSum=-2.367e+00;QD=8.45;ReadPosRankSum=-1.678e+00;SOR=3.126	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:26,0:26:0:.:.:0,0,197	8	0	1	12
chr11	1096749	1096749	C	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	858	658	6	0	0	6	0.00453858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0026	0.0083	0.0023	0.0030	0.0089	0.0025	0.0025	0.0082	0.0079	0.0036	0.0068	0.0036	0.0056	0.0032	0.0043	0.0016	0.0024	0.0089	0	0.0009	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02941	83.57	35	chr11	1096749	.	C	G	83.57	.	AC=1;AF=0.029;AN=34;BaseQRankSum=2.68;DP=692;ExcessHet=0.0000;FS=11.553;InbreedingCoeff=0.3778;MLEAC=1;MLEAF=0.029;MQ=38.91;MQRankSum=-4.290e-01;QD=6.43;ReadPosRankSum=-2.031e+00;SOR=2.788	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:26,0:26:60:.:.:0,60,900	16	0	1	4
chr11	1096825	1096825	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1304715576	0.0029	0.0037	0.0029	0.0029	0.0097	0.0028	0.0027	0.0082	0.0076	0.0052	0.0066	0.0051	0.0097	0.0069	0.0030	0.0021	0.0034	0.0043	0.0013	0.0029	0.0014	0.0012	0.0054	0.0002	9.588e-05	.	.	0.0054	.	0	0	0	0.0057	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	31.04	33	chr11	1096825	.	C	T	31.04	.	AC=1;AF=0.031;AN=32;BaseQRankSum=0.771;DP=755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0919;MLEAC=1;MLEAF=0.031;MQ=42.84;MQRankSum=-4.400e-01;QD=1.24;ReadPosRankSum=-1.156e+00;SOR=1.022	GT:AD:DP:GQ:PL	./.:33,0:33:0:0,0,704	15	0	1	5
chr11	1096829	1096897	GTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACAACGACACCCATCAGCACCACCACCACA	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0008	0.0001	0.0001	0.0004	0.0001	9.5e-05	0.0002	0.0001	0.0002	0.0001	0.0003	0.0003	0.0001	0.0004	9.941e-05	6.457e-05	0.0002	0.0004	0.0006	0	0.0008	0.0010	0	0	.	.	0	.	0	0	0	0	0	0.0010	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	107.94	33	chr11	1096828	.	GGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACAACGACACCCATCAGCACCACCACCACA	G	107.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.99;DP=758;ExcessHet=0.0000;FS=5.647;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=41.68;MQRankSum=-2.458e+00;QD=4.69;ReadPosRankSum=-2.961e+00;SOR=2.437	GT:AD:DP:GQ:PL	0/0:32,0:32:57:0,57,747	20	0	1	0
chr11	1096897	1096897	A	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6333	3680.93	78	chr11	1096897	.	A	G,*	3680.93	.	AC=18,1;AF=0.600,0.033;AN=30;BaseQRankSum=1.84;DP=894;ExcessHet=0.0009;FS=56.653;InbreedingCoeff=0.4463;MLEAC=23,1;MLEAF=0.767,0.033;MQ=39.56;MQRankSum=-1.082e+00;QD=11.29;ReadPosRankSum=-7.730e-01;SOR=2.505	GT:AD:DP:GQ:PL	./.:9,0,0:9:0:0,0,0,0,0,0	4	8	2	6
chr11	1097057	1097057	A	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	692	829	1	0	0	1	0.000602773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1447147746	0.0020	0.0038	0.0019	0.0021	0.0023	0.0019	0.0019	0.0021	0.0021	0.0019	0.0010	0.0010	0.0011	0.0040	0.0004	0.0023	0.0017	0.0012	0.0007	0.0017	0.0007	0.0007	0.0010	0.0006	0.0005	0.0008	0.0007	0.0005	0	0.0006	0	0.0004	0.0006	0	0.0010	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	362.33	120	chr11	1097057	.	A	G	362.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-3.200e-01;DP=1934;ExcessHet=0.0000;FS=5.564;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=35.50;MQRankSum=2.40;QD=5.84;ReadPosRankSum=-7.000e-01;SOR=1.360	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,110,1506	19	0	1	1
chr11	1097113	1097113	-	ACCCCAACACCCACCGGCACACAGACCCCAACATCGACACCCATCACCACCACCACTACGGTG	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	480.94	140	chr11	1097113	.	A	AACCCCAACACCCACCGGCACACAGACCCCAACATCGACACCCATCACCACCACCACTACGGTG	480.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.43;DP=2258;ExcessHet=0.0000;FS=32.905;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=37.28;MQRankSum=-1.502e+00;QD=4.86;ReadPosRankSum=3.01;SOR=3.488	GT:AD:DP:GQ:PL	0/0:148,0:148:99:0,120,1800	20	0	1	0
chr11	1097253	1097253	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	638	875	8	0	1	9	0.00455063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.767	P	0.068	B	.	.	1.000	N	.	.	2.47	T	-0.981	T	0.016	T	0.121	-0.161	3.215	-2.04	-0.678	0.798	4.976	0.040	0.0298371299834	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1179715210	0.0027	0.0052	0.0027	0.0027	0.0097	0.0026	0.0025	0.0086	0.0082	0.0097	0.0029	0.0052	0.0069	0.0056	0.0037	0.0021	0.0053	0.0006	0.0033	0.0072	0.0031	0.0035	0.0093	0.0030	0.0029	0.0064	0.0054	0.0054	0.0016	0.0015	0.0033	0.0093	0.0024	0	0.0023	0.0023	0.0055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02941	42.53	88	chr11	1097253	.	C	A	42.53	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-2.965e+00;DP=5501;ExcessHet=0.0000;FS=1.779;InbreedingCoeff=-0.0773;MLEAC=1;MLEAF=0.029;MQ=38.38;MQRankSum=-1.258e+00;QD=0.14;ReadPosRankSum=-1.932e+00;SOR=0.850	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:234,0:234:99:.:.:0,120,1800	16	0	1	4
chr11	1097308	1097308	-	ACGGTGACCCCAACCCCAACACCCACTGGCACACAGACCCCAACCACAACAGCCATCACCACCACCACT	exonic	MUC2	.	unknown	UNKNOWN,	.	.	646	865	11	0	0	11	0.00631821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0.0020	0.0020	0.0024	0.0112	0.0021	0.0021	0.0102	0.0098	0.0017	0.0027	0.0027	0.0112	0.0033	0.0023	0.0016	0.0026	0.0033	5.6e-05	8.507e-05	6.629e-05	4.543e-05	7.101e-05	2.136e-05	1.388e-05	1.883e-05	1.022e-05	4.239e-05	0	0	0	0	0.0002	0	7.101e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	3629.07	88	chr11	1097308	.	C	CACGGTGACCCCAACCCCAACACCCACTGGCACACAGACCCCAACCACAACAGCCATCACCACCACCACT	3629.07	.	AC=6;AF=0.150;AN=40;BaseQRankSum=0.894;DP=4713;ExcessHet=1.7912;FS=0.000;InbreedingCoeff=-0.1831;MLEAC=6;MLEAF=0.150;MQ=38.56;MQRankSum=1.03;QD=2.33;ReadPosRankSum=-3.810e+00;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:234,0:234:99:.:.:0,120,1800	14	0	6	1
chr11	1097338	1097338	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	667	849	4	0	2	6	0.00235018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0	0	0	0.0024	0.0008	0	0.0001	.	.	.	.	6.399e-05	0.0005	5.415e-05	7.259e-05	9.64e-05	4.754e-05	4.162e-05	7.093e-05	6.186e-05	0	3.122e-05	0	0	0	0	9.64e-05	3.176e-05	1.586e-05	0	6.398e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	69.98	88	chr11	1097338	.	C	A	69.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.069e+00;DP=2493;ExcessHet=0.0000;FS=1.951;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=30.01;MQRankSum=2.71;QD=1.27;ReadPosRankSum=-2.686e+00;SOR=0.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:234,0:234:99:.:.:0,120,1800	20	0	1	0
chr11	1097355	1097404	CGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACC	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	708	759	46	0	9	55	0.0294118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.345e-05	0	0	0	0	0.0001	0	0	.	.	.	.	0.0044	0.0014	0.0053	0.0038	0.0111	0.0041	0.0040	0.0058	0.0047	0.0065	0.0024	0.0050	0.0068	0.0020	0.0111	0.0052	0.0054	0.0014	0.0036	0.0023	0.0032	0.0039	0.0156	0.0026	0.0022	0.0028	0.0017	0.0046	0.0200	0	0.0034	0.0048	0.0116	0	0.0027	0	0.0156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	1196.39	88	chr11	1097354	.	TCGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACC	T	1196.39	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.205;DP=2532;ExcessHet=0.0000;FS=4.408;InbreedingCoeff=-0.0637;MLEAC=1;MLEAF=0.028;MQ=32.32;MQRankSum=1.15;QD=5.13;ReadPosRankSum=-2.198e+00;SOR=0.367	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:219,0:219:0:.:.:0,0,5817	17	0	1	3
chr11	1097377	1097377	T	0	exonic	MUC2	.	.	.	.	.	706	772	41	0	3	44	0.0258675	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	1225.14	90	chr11	1097377	.	T	C,*	1225.14	.	AC=6,1;AF=0.273,0.045;AN=22;BaseQRankSum=2.86;DP=2345;ExcessHet=2.5830;FS=30.158;InbreedingCoeff=-0.4001;MLEAC=9,2;MLEAF=0.409,0.091;MQ=29.98;MQRankSum=-1.032e+00;QD=2.03;ReadPosRankSum=-2.380e-01;SOR=2.410	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:201,0,0:201:0:.:.:0,0,5035,0,5035,5035	4	0	6	10
chr11	1097397	1097397	C	0	exonic	MUC2	.	.	.	.	.	683	731	102	3	3	111	0.0687898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	2445.2	75	chr11	1097397	.	C	T,*	2445.2	.	AC=3,1;AF=0.083,0.028;AN=36;BaseQRankSum=-2.256e+00;DP=2418;ExcessHet=0.6776;FS=16.908;InbreedingCoeff=-0.1507;MLEAC=3,1;MLEAF=0.083,0.028;MQ=32.67;MQRankSum=2.33;QD=6.75;ReadPosRankSum=-1.210e-01;SOR=0.563	GT:AD:DP:GQ:PL	0/0:196,0,0:196:99:0,120,1800,120,1800,1800	14	0	3	3
chr11	1097399	1097399	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	41.06	75	chr11	1097399	.	C	*,T	41.06	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=2.12;DP=2414;ExcessHet=0.1072;FS=0.607;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=33.63;MQRankSum=1.39;QD=0.19;ReadPosRankSum=4.07;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:196,0,0:196:99:.:.:0,120,1800,120,1800,1800	19	0	1	0
chr11	1097399	1097399	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.001	B	0.0	B	.	.	1.000	N	.	.	2.56	T	-0.938	T	0.012	T	0.223	-0.077	3.622	-2.88	-0.314	0.230	3.424	0.013	.	.	.	0.0090	0.0016	0.0106	0	0.0099	0.0141	0.0057	0.0072	.	.	.	rs1431346206	0.0021	0.0071	0.0023	0.0019	0.0028	0.0020	0.0019	0.0026	0.0025	0.0004	0.0007	0.0017	0	0.0024	0.0013	0.0028	0.0023	0.0009	0.0065	0.0098	0.0071	0.0058	0.0124	0.0060	0.0058	0.0114	0.0109	0.0013	0.0034	0.0043	0.0084	0	0.0024	0	0.0124	0.0061	0.0020	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	41.06	75	chr11	1097399	.	C	*,T	41.06	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=2.12;DP=2414;ExcessHet=0.1072;FS=0.607;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=33.63;MQRankSum=1.39;QD=0.19;ReadPosRankSum=4.07;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:196,0,0:196:99:.:.:0,120,1800,120,1800,1800	19	0	1	0
chr11	1097404	1097404	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	725	773	23	0	1	24	0.014659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0220	0.0089	0	0.0172	0.0135	0.0152	0.0312	0.0510	0.0002458	38	154602	rs1263995397	0.0102	0.0083	0.0109	0.0095	0.0188	0.0098	0.0096	0.0123	0.0121	0.0056	0.0066	0.0112	0.0034	0.0078	0.0188	0.0129	0.0119	0.0030	0.0079	0.0098	0.0081	0.0076	0.0102	0.0071	0.0068	0.0089	0.0084	0.0045	0.0112	0.0069	0.0055	0.0088	0.0089	0	0.0102	0.0089	0.0087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.1875	3071.46	75	chr11	1097404	.	C	T	3071.46	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-2.806e+00;DP=3012;ExcessHet=0.3300;FS=2.589;InbreedingCoeff=-0.2923;MLEAC=5;MLEAF=0.313;MQ=33.16;MQRankSum=-1.158e+00;QD=7.80;ReadPosRankSum=1.91;SOR=0.787	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:210,0:210:0:.:.:0,0,4196	5	0	3	13
chr11	1097424	1097492	CGACACCCATCACCACCACCACCACGGTGACCCCAACCCCAACACCCACTGGCACACAGGCCCCAACCC	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	667	841	14	0	0	14	0.00825472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0008	0.0006	0.0004	0.0022	0.0004	0.0004	0.0009	0.0006	0.0012	0.0003	0.0011	0.0009	0.0001	0.0022	0.0005	0.0005	0.0003	0.0007	0.0016	0.0005	0.0008	0.0027	0.0005	0.0004	0.0005	0.0002	0.0006	0.0048	0.0003	0.0010	0.0008	0.0016	0	0.0005	0.0019	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1203.94	75	chr11	1097423	.	ACGACACCCATCACCACCACCACCACGGTGACCCCAACCCCAACACCCACTGGCACACAGGCCCCAACCC	A	1203.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=3444;ExcessHet=0.0000;FS=0.594;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=41.57;MQRankSum=-2.989e+00;QD=4.95;ReadPosRankSum=4.55;SOR=0.635	GT:AD:DP:GQ:PL	0/0:236,0:236:99:0,120,1800	20	0	1	0
chr11	1097430	1097430	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	679	826	5	0	12	17	0.0030175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.991	D	0.326	B	.	.	1.000	N	.	.	2.46	T	-1.026	T	0.028	T	0.154	-0.334	2.416	0.741	0.097	0.436	5.958	0.055	0.0124052184077	.	.	5.906e-05	0.0007	0	0	0	0	0	0	1.29e-05	2	154602	rs1205731830	0.0007	0.0014	0.0007	0.0007	0.0022	0.0006	0.0006	0.0015	0.0012	0.0022	0.0009	0.0010	0.0017	0.0006	0.0011	0.0005	0.0007	0.0005	0.0022	0.0030	0.0023	0.0020	0.0062	0.0019	0.0018	0.0032	0.0024	0.0023	0	0.0024	0.0006	0.0062	0.0016	0	0.0020	0.0043	0.0030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	1115.46	75	chr11	1097430	.	C	A,*	1115.46	.	AC=1,1;AF=0.050,0.050;AN=20;BaseQRankSum=-2.691e+00;DP=3750;ExcessHet=0.1072;FS=3.805;InbreedingCoeff=-0.2174;MLEAC=2,2;MLEAF=0.100,0.100;MQ=36.76;MQRankSum=-1.916e+00;QD=3.12;ReadPosRankSum=4.32;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:261,0,0:261:0:.:.:0,0,5416,0,5416,5416	8	0	1	11
chr11	1097430	1097430	C	0	exonic	MUC2	.	.	.	.	.	679	826	5	0	12	17	0.0030175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1115.46	75	chr11	1097430	.	C	A,*	1115.46	.	AC=1,1;AF=0.050,0.050;AN=20;BaseQRankSum=-2.691e+00;DP=3750;ExcessHet=0.1072;FS=3.805;InbreedingCoeff=-0.2174;MLEAC=2,2;MLEAF=0.100,0.100;MQ=36.76;MQRankSum=-1.916e+00;QD=3.12;ReadPosRankSum=4.32;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:261,0,0:261:0:.:.:0,0,5416,0,5416,5416	8	0	1	11
chr11	1097434	1097434	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	709	787	15	0	11	26	0.0094399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0049	0	0	0	0	0	0	4.53e-05	7	154602	rs1324794777	0.0039	0.0035	0.0042	0.0037	0.0047	0.0037	0.0037	0.0044	0.0043	0.0047	0.0026	0.0041	0.0019	0.0034	0.0031	0.0047	0.0045	0.0012	0.0045	0.0056	0.0046	0.0044	0.0055	0.0040	0.0039	0.0047	0.0044	0.0030	0.0041	0.0046	0.0015	0.0055	0.0046	0	0.0055	0.0088	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	3353.75	75	chr11	1097434	.	C	T	3353.75	.	AC=3;AF=0.250;AN=12;BaseQRankSum=-4.019e+00;DP=3924;ExcessHet=0.3300;FS=0.539;InbreedingCoeff=-0.3333;MLEAC=6;MLEAF=0.500;MQ=36.00;MQRankSum=-2.053e+00;QD=7.54;ReadPosRankSum=1.89;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:277,0:277:0:.:.:0,0,5735	3	0	3	15
chr11	1097440	1097440	C	0	exonic	MUC2	.	.	.	.	.	667	835	9	0	11	20	0.00536033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1991.87	75	chr11	1097440	.	C	*,G	1991.87	.	AC=1,1;AF=0.026,0.026;AN=38;BaseQRankSum=-3.254e+00;DP=4019;ExcessHet=0.1072;FS=3.849;InbreedingCoeff=-0.0825;MLEAC=1,1;MLEAF=0.026,0.026;MQ=35.60;MQRankSum=-1.169e+00;QD=6.51;ReadPosRankSum=3.12;SOR=0.506	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:273,0,0:273:99:.:.:0,120,1800,120,1800,1800	17	0	1	2
chr11	1097440	1097440	C	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	667	835	9	0	11	20	0.00536033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1231771272	0.0010	0.0012	0.0010	0.0009	0.0012	0.0009	0.0009	0.0011	0.0011	4.237e-05	0.0005	0.0010	0	0.0012	0.0003	0.0012	0.0013	0.0002	0.0008	0.0012	0.0007	0.0009	0.0012	0.0006	0.0006	0.0009	0.0008	0.0003	0	0.0009	0.0004	0	0.0012	0	0.0012	0.0015	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05263	1991.87	75	chr11	1097440	.	C	*,G	1991.87	.	AC=1,1;AF=0.026,0.026;AN=38;BaseQRankSum=-3.254e+00;DP=4019;ExcessHet=0.1072;FS=3.849;InbreedingCoeff=-0.0825;MLEAC=1,1;MLEAF=0.026,0.026;MQ=35.60;MQRankSum=-1.169e+00;QD=6.51;ReadPosRankSum=3.12;SOR=0.506	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:273,0,0:273:99:.:.:0,120,1800,120,1800,1800	17	0	1	2
chr11	1097515	1097534	TACGGTGACCCCAACCCCAA	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.396e-06	1.483e-05	7.938e-06	4.832e-06	8.367e-06	2.75e-06	1.99e-06	3.6e-06	2.6e-06	0	0	0	0	0	0	8.367e-06	0	0	1.007e-05	1.46e-05	1.968e-05	0	2.347e-05	0	0	.	.	0	0	0	0	0	0	0	2.347e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	70.94	280	chr11	1097514	.	CTACGGTGACCCCAACCCCAA	C	70.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.528;DP=4343;ExcessHet=0.0000;FS=7.161;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.76;MQRankSum=-3.883e+00;QD=0.25;ReadPosRankSum=-5.465e+00;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:191,0:191:99:.:.:0,120,1800	20	0	1	0
chr11	1097517	1097586	CGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACAACGACACCCATCACCACCACCACCAT	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	122.03	280	chr11	1097517	.	CGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACAACGACACCCATCACCACCACCACCAT	*,C	122.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-3.890e-01;DP=4451;ExcessHet=0.1072;FS=4.260;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=50.11;MQRankSum=-6.312e+00;QD=0.28;ReadPosRankSum=2.03;SOR=0.749	GT:AD:DP:GQ:PL	0/0:191,0,0:191:99:0,120,1800,120,1800,1800	19	0	1	0
chr11	1097518	1097586	GGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACAACGACACCCATCACCACCACCACCAT	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	622	891	5	3	1	12	0.00613497	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0045	0.0018	0.0030	0.0024	0.0023	0.0023	0.0023	0.0023	0.0024	0.0021	0.0018	0.0008	0.0052	0.0019	0.0024	0.0033	0.0019	4.707e-05	0.0008	1.834e-05	7.737e-05	8.495e-05	1.776e-05	1.199e-05	2.881e-05	1.734e-05	0	0	0	0	0	0.0002	0	8.495e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	122.03	280	chr11	1097517	.	CGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACAACGACACCCATCACCACCACCACCAT	*,C	122.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-3.890e-01;DP=4451;ExcessHet=0.1072;FS=4.260;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=50.11;MQRankSum=-6.312e+00;QD=0.28;ReadPosRankSum=2.03;SOR=0.749	GT:AD:DP:GQ:PL	0/0:191,0,0:191:99:0,120,1800,120,1800,1800	19	0	1	0
chr11	1097520	1097520	T	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	651	838	24	1	8	34	0.0152761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394082476	0.0051	0.0082	0.0050	0.0051	0.0055	0.0050	0.0049	0.0054	0.0053	0.0004	0.0026	0.0043	0	0.0160	0.0044	0.0055	0.0050	0.0016	0.0028	0.0060	0.0027	0.0030	0.0046	0.0025	0.0024	0.0040	0.0037	0.0005	0	0.0009	0.0038	0	0.0104	0	0.0046	0.0071	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05263	149.78	280	chr11	1097520	.	T	G,*	149.78	.	AC=1,1;AF=0.026,0.026;AN=38;BaseQRankSum=-2.167e+00;DP=4463;ExcessHet=0.1072;FS=0.823;InbreedingCoeff=-0.0769;MLEAC=1,1;MLEAF=0.026,0.026;MQ=33.60;MQRankSum=1.32;QD=0.62;ReadPosRankSum=-1.456e+00;SOR=0.511	GT:AD:DP:GQ:PL	0/0:191,0,0:191:99:0,120,1800,120,1800,1800	17	0	1	2
chr11	1097520	1097520	T	0	exonic	MUC2	.	.	.	.	.	651	838	24	1	8	34	0.0152761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	149.78	280	chr11	1097520	.	T	G,*	149.78	.	AC=1,1;AF=0.026,0.026;AN=38;BaseQRankSum=-2.167e+00;DP=4463;ExcessHet=0.1072;FS=0.823;InbreedingCoeff=-0.0769;MLEAC=1,1;MLEAF=0.026,0.026;MQ=33.60;MQRankSum=1.32;QD=0.62;ReadPosRankSum=-1.456e+00;SOR=0.511	GT:AD:DP:GQ:PL	0/0:191,0,0:191:99:0,120,1800,120,1800,1800	17	0	1	2
chr11	1097538	1097586	CCACCGGCACACAGACCCCAACAACGACACCCATCACCACCACCACCAT	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.362e-05	7.074e-05	3.414e-05	3.308e-05	3.737e-05	2.516e-05	2.21e-05	2.665e-05	2.344e-05	0	0	0	2.997e-05	3.286e-05	0	3.737e-05	8.088e-05	0	0	2.121e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	202.03	280	chr11	1097537	.	CCCACCGGCACACAGACCCCAACAACGACACCCATCACCACCACCACCAT	C,*	202.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.41;DP=4097;ExcessHet=0.1072;FS=4.260;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=51.32;MQRankSum=-6.900e+00;QD=0.47;ReadPosRankSum=-6.401e+00;SOR=0.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:191,0,0:191:99:.:.:0,120,1800,120,1800,1800	19	0	1	0
chr11	1097537	1097586	CCCACCGGCACACAGACCCCAACAACGACACCCATCACCACCACCACCAT	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	202.03	280	chr11	1097537	.	CCCACCGGCACACAGACCCCAACAACGACACCCATCACCACCACCACCAT	C,*	202.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.41;DP=4097;ExcessHet=0.1072;FS=4.260;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=51.32;MQRankSum=-6.900e+00;QD=0.47;ReadPosRankSum=-6.401e+00;SOR=0.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:191,0,0:191:99:.:.:0,120,1800,120,1800,1800	19	0	1	0
chr11	1097542	1097542	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	668	830	12	4	8	28	0.0119048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1388450032	0.0030	0.0029	0.0025	0.0035	0.0140	0.0029	0.0029	0.0133	0.0130	0.0005	0.0014	0.0023	0.0009	0.0010	0.0092	0.0024	0.0029	0.0140	0.0010	0.0013	0.0009	0.0011	0.0066	0.0008	0.0007	0.0039	0.0031	0.0002	0	0.0006	0.0030	0.0003	0	0.0088	0.0014	0	0.0066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	3942.28	175	chr11	1097542	.	C	T,*	3942.28	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=1.89;DP=3986;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=53.25;MQRankSum=-9.900e-01;QD=7.17;ReadPosRankSum=-1.372e+00;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:191,0,0:191:99:.:.:0,120,1800,120,1800,1800	18	0	2	0
chr11	1097542	1097542	C	0	exonic	MUC2	.	.	.	.	.	668	830	12	4	8	28	0.0119048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3942.28	175	chr11	1097542	.	C	T,*	3942.28	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=1.89;DP=3986;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=53.25;MQRankSum=-9.900e-01;QD=7.17;ReadPosRankSum=-1.372e+00;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:191,0,0:191:99:.:.:0,120,1800,120,1800,1800	18	0	2	0
chr11	1097560	1097564	AACGA	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	0.0034	0.0020	0.0022	0.0032	0.0020	0.0020	0.0020	0.0019	0.0024	0.0023	0.0035	0.0020	0.0085	0.0032	0.0018	0.0026	0.0023	0.0016	0.0013	0.0012	0.0020	0.0020	0.0013	0.0012	0.0016	0.0014	0.0013	0.0035	0.0018	0.0011	0.0016	0.0008	0	0.0020	0.0011	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	49.03	172	chr11	1097559	.	CAACGA	C,*	49.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=3.02;DP=3902;ExcessHet=0.1072;FS=1.659;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=51.22;MQRankSum=-8.040e+00;QD=0.16;ReadPosRankSum=-3.922e+00;SOR=0.518	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:191,0,0:191:99:.:.:0,120,1800,120,1800,1800	19	0	1	0
chr11	1097559	1097564	CAACGA	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	49.03	172	chr11	1097559	.	CAACGA	C,*	49.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=3.02;DP=3902;ExcessHet=0.1072;FS=1.659;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=51.22;MQRankSum=-8.040e+00;QD=0.16;ReadPosRankSum=-3.922e+00;SOR=0.518	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:191,0,0:191:99:.:.:0,120,1800,120,1800,1800	19	0	1	0
chr11	1097560	1097560	A	0	exonic	MUC2	.	.	.	.	.	36	182	1	1	6	9	0.00817439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	502.64	172	chr11	1097560	.	A	C,*	502.64	.	AC=3,2;AF=0.094,0.063;AN=32;BaseQRankSum=2.96;DP=3898;ExcessHet=0.0454;FS=0.723;InbreedingCoeff=0.1765;MLEAC=3,2;MLEAF=0.094,0.063;MQ=33.04;MQRankSum=0.067;QD=1.50;ReadPosRankSum=-2.820e-01;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:191,0,0:191:99:.:.:0,120,1800,120,1800,1800	12	1	1	5
chr11	1097561	1097561	A	0	exonic	MUC2	.	.	.	.	.	747	760	8	1	6	16	0.00653595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2083	70.26	172	chr11	1097561	.	A	*,T	70.26	.	AC=3,2;AF=0.125,0.083;AN=24;BaseQRankSum=-1.230e+00;DP=3863;ExcessHet=1.3000;FS=0.790;InbreedingCoeff=-0.1465;MLEAC=4,2;MLEAF=0.167,0.083;MQ=53.93;MQRankSum=-6.511e+00;QD=0.08;ReadPosRankSum=-2.930e+00;SOR=0.787	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:191,0,0:191:99:.:.:0,120,1800,120,1800,1800	7	0	3	9
chr11	1097563	1097563	G	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	650	853	10	3	6	22	0.00929152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1283237635	0.0067	0.0062	0.0063	0.0072	0.0186	0.0066	0.0065	0.0153	0.0140	0.0012	0.0033	0.0108	0.0003	0.0068	0.0186	0.0074	0.0061	0.0043	0.0032	0.0046	0.0031	0.0033	0.0055	0.0028	0.0026	0.0047	0.0044	0.0008	0.0049	0.0023	0.0065	0.0004	0.0014	0	0.0055	0.0082	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1053	1930.44	172	chr11	1097563	.	G	A,*	1930.44	.	AC=2,2;AF=0.053,0.053;AN=38;BaseQRankSum=1.72;DP=3756;ExcessHet=0.0082;FS=1.823;InbreedingCoeff=0.2675;MLEAC=2,2;MLEAF=0.053,0.053;MQ=54.30;MQRankSum=-1.506e+00;QD=5.01;ReadPosRankSum=0.719;SOR=0.820	GT:AD:DP:GQ:PL	0/0:191,0,0:191:99:0,120,1800,120,1800,1800	16	1	0	2
chr11	1097563	1097563	G	0	exonic	MUC2	.	.	.	.	.	650	853	10	3	6	22	0.00929152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	1930.44	172	chr11	1097563	.	G	A,*	1930.44	.	AC=2,2;AF=0.053,0.053;AN=38;BaseQRankSum=1.72;DP=3756;ExcessHet=0.0082;FS=1.823;InbreedingCoeff=0.2675;MLEAC=2,2;MLEAF=0.053,0.053;MQ=54.30;MQRankSum=-1.506e+00;QD=5.01;ReadPosRankSum=0.719;SOR=0.820	GT:AD:DP:GQ:PL	0/0:191,0,0:191:99:0,120,1800,120,1800,1800	16	1	0	2
chr11	1097584	1097584	C	0	exonic	MUC2	.	.	.	.	.	640	870	3	3	6	15	0.0051458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	68.96	172	chr11	1097584	.	C	*,T	68.96	.	AC=2,2;AF=0.111,0.111;AN=18;BaseQRankSum=2.39;DP=3969;ExcessHet=0.6776;FS=1.941;InbreedingCoeff=-0.3284;MLEAC=4,4;MLEAF=0.222,0.222;MQ=55.29;MQRankSum=-7.894e+00;QD=0.09;ReadPosRankSum=0.222;SOR=0.910	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:191,0,0:191:99:.:.:0,120,1800,120,1800,1800	5	0	2	12
chr11	1097584	1097584	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	640	870	3	3	6	15	0.0051458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1409182406	0.0007	0.0023	0.0006	0.0007	0.0014	0.0006	0.0006	0.0010	0.0009	0.0014	0.0009	0.0007	0.0011	0.0021	0.0003	0.0006	0.0007	0.0009	0.0004	0.0014	0.0002	0.0005	0.0016	0.0002	0.0001	0.0001	6.105e-05	0.0004	0	0.0004	0.0015	0	0.0008	0	0.0002	0	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2222	68.96	172	chr11	1097584	.	C	*,T	68.96	.	AC=2,2;AF=0.111,0.111;AN=18;BaseQRankSum=2.39;DP=3969;ExcessHet=0.6776;FS=1.941;InbreedingCoeff=-0.3284;MLEAC=4,4;MLEAF=0.222,0.222;MQ=55.29;MQRankSum=-7.894e+00;QD=0.09;ReadPosRankSum=0.222;SOR=0.910	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:191,0,0:191:99:.:.:0,120,1800,120,1800,1800	5	0	2	12
chr11	1097586	1097586	T	0	exonic	MUC2	.	.	.	.	.	793	716	5	2	6	15	0.00624566	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	34.69	172	chr11	1097586	.	T	*,C	34.69	.	AC=2,1;AF=0.100,0.050;AN=20;BaseQRankSum=2.33;DP=4017;ExcessHet=0.4139;FS=1.843;InbreedingCoeff=0.0053;MLEAC=3,2;MLEAF=0.150,0.100;MQ=54.85;MQRankSum=-8.086e+00;QD=0.06;ReadPosRankSum=3.06;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:191,0,0:191:99:.:.:0,120,1800,120,1800,1800	7	0	2	11
chr11	1097593	1097593	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	711	807	3	1	0	5	0.00308833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1161748060	0.0021	0.0050	0.0020	0.0023	0.0027	0.0021	0.0020	0.0023	0.0022	0.0007	0.0018	0.0026	0.0003	0.0109	0.0014	0.0020	0.0024	0.0027	0.0043	0.0082	0.0035	0.0052	0.0070	0.0034	0.0031	0.0051	0.0045	0.0021	0	0.0042	0.0061	0	0.0050	0	0.0070	0	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	557.59	172	chr11	1097593	.	C	A	557.59	.	AC=1;AF=0.063;AN=16;BaseQRankSum=1.39;DP=4154;ExcessHet=0.0000;FS=7.226;InbreedingCoeff=0.0100;MLEAC=2;MLEAF=0.125;MQ=54.21;MQRankSum=-7.274e+00;QD=2.45;ReadPosRankSum=-3.386e+00;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:191,0:191:99:.:.:0,120,1800	7	0	1	13
chr11	1097761	1097761	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	655	863	4	0	0	4	0.00231214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1361308733	0.0015	0.0035	0.0014	0.0015	0.0016	0.0014	0.0013	0.0014	0.0014	0.0016	0.0007	0.0008	0.0011	0.0033	0.0006	0.0015	0.0014	0.0008	0.0003	0.0005	0.0004	0.0003	0.0005	0.0002	0.0002	0.0003	0.0002	0.0004	0	0.0002	0	0	0	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	103.02	145	chr11	1097761	.	C	T	103.02	.	AC=1;AF=0.031;AN=32;BaseQRankSum=0.017;DP=4121;ExcessHet=0.0000;FS=8.593;InbreedingCoeff=-0.0909;MLEAC=1;MLEAF=0.031;MQ=44.22;MQRankSum=0.589;QD=0.47;ReadPosRankSum=0.321;SOR=1.675	GT:AD:DP:GQ:PL	0/0:236,0:236:99:0,120,1800	15	0	1	5
chr11	1097762	1097762	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	661	857	4	0	0	4	0.00232829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1177200914	0.0015	0.0036	0.0015	0.0016	0.0017	0.0014	0.0014	0.0015	0.0014	0.0017	0.0007	0.0007	0.0012	0.0034	0.0006	0.0016	0.0014	0.0010	0.0004	0.0006	0.0004	0.0004	0.0010	0.0003	0.0002	0.0003	0.0003	0.0003	0	0.0002	0	0	0	0	0.0006	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	35.02	145	chr11	1097762	.	C	A	35.02	.	AC=1;AF=0.031;AN=32;BaseQRankSum=0.029;DP=4115;ExcessHet=0.0000;FS=9.578;InbreedingCoeff=-0.0909;MLEAC=1;MLEAF=0.031;MQ=44.28;MQRankSum=0.388;QD=0.15;ReadPosRankSum=0.997;SOR=1.970	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:236,0:236:99:.:.:0,120,1800	15	0	1	5
chr11	1097768	1097768	A	C	exonic	MUC2	.	unknown	UNKNOWN,	.	.	713	805	4	0	0	4	0.00247831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1423716618	0.0028	0.0036	0.0028	0.0027	0.0053	0.0026	0.0026	0.0042	0.0038	0.0053	0.0015	0.0014	0.0019	0.0052	0.0019	0.0028	0.0026	0.0023	0.0016	0.0023	0.0015	0.0018	0.0026	0.0011	0.0010	0.0011	0.0008	0.0022	0	0.0026	0	0	0.0043	0	0.0012	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04167	50.17	145	chr11	1097768	.	A	C	50.17	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-6.000e-03;DP=3941;ExcessHet=0.0000;FS=10.764;InbreedingCoeff=-0.1509;MLEAC=2;MLEAF=0.083;MQ=41.50;MQRankSum=0.774;QD=0.26;ReadPosRankSum=1.33;SOR=2.268	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:236,0:236:99:.:.:0,120,1800	11	0	1	9
chr11	1097793	1097793	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.912e-05	8.756e-05	5.311e-05	4.549e-05	0.0009	3.565e-05	3.154e-05	0.0005	0.0004	0.0009	3.178e-05	0	0.0002	3.048e-05	0	1.256e-05	5.742e-05	7.732e-05	3.671e-05	5.931e-05	3.718e-05	3.626e-05	0.0002	6.09e-06	2.28e-06	2.916e-05	1.214e-05	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	203.98	128	chr11	1097793	.	C	T	203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.90;DP=2234;ExcessHet=0.0000;FS=1.413;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=45.92;MQRankSum=-1.180e-01;QD=1.45;ReadPosRankSum=-4.580e-01;SOR=1.158	GT:AD:DP:GQ:PL	0/0:135,0:135:99:0,120,1800	20	0	1	0
chr11	1097800	1097800	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1276421180	1.01e-05	6.21e-05	7.858e-06	1.219e-05	5.191e-05	4.35e-06	3.14e-06	1.46e-06	4e-07	5.191e-05	3.095e-05	0	0	0	0	5.473e-06	5.335e-05	1.507e-05	2.117e-05	3.157e-05	4.331e-05	0	9.397e-05	0	0	.	.	9.397e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	142.98	128	chr11	1097800	.	C	A	142.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.692e+00;DP=2205;ExcessHet=0.0000;FS=1.401;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=35.24;MQRankSum=2.23;QD=1.51;ReadPosRankSum=-3.890e-01;SOR=0.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:135,0:135:99:.:.:0,120,1800	20	0	1	0
chr11	1097805	1097805	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	683	827	12	0	0	12	0.00720288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.083e-05	0.0006	4.152e-05	2.074e-05	9.699e-05	2.144e-05	1.822e-05	2.385e-05	1.288e-05	9.699e-05	9e-05	9.62e-05	6.337e-05	0	0	2.691e-05	0	1.488e-05	4.208e-05	0.0002	4.311e-05	4.11e-05	0.0002	6.98e-06	2.61e-06	3.316e-05	1.363e-05	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1389	610.1	129	chr11	1097805	.	C	A,T	610.1	.	AC=4,1;AF=0.111,0.028;AN=36;BaseQRankSum=-3.609e+00;DP=2223;ExcessHet=1.1607;FS=29.852;InbreedingCoeff=-0.1831;MLEAC=4,1;MLEAF=0.111,0.028;MQ=35.19;MQRankSum=-9.600e-02;QD=1.08;ReadPosRankSum=-6.300e-01;SOR=4.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,12,0:138:99:0|1:1097750_G_A:139,0,4330,498,4367,4865:1097750	13	0	4	3
chr11	1097805	1097805	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.542e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1389	610.1	129	chr11	1097805	.	C	A,T	610.1	.	AC=4,1;AF=0.111,0.028;AN=36;BaseQRankSum=-3.609e+00;DP=2223;ExcessHet=1.1607;FS=29.852;InbreedingCoeff=-0.1831;MLEAC=4,1;MLEAF=0.111,0.028;MQ=35.19;MQRankSum=-9.600e-02;QD=1.08;ReadPosRankSum=-6.300e-01;SOR=4.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,12,0:138:99:0|1:1097750_G_A:139,0,4330,498,4367,4865:1097750	13	0	4	3
chr11	1097836	1097836	A	C	exonic	MUC2	.	unknown	UNKNOWN,	.	.	689	813	20	0	0	20	0.0121507	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1381655864	0.0037	0.0059	0.0036	0.0039	0.0058	0.0036	0.0036	0.0037	0.0036	0.0011	0.0028	0.0031	0.0002	0.0123	0.0058	0.0038	0.0035	0.0039	0.0072	0.0056	0.0067	0.0078	0.0117	0.0064	0.0061	0.0102	0.0096	0.0017	0	0.0056	0	0.0010	0.0117	0	0.0117	0.0082	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03333	151.45	98	chr11	1097836	.	A	C	151.45	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-1.482e+00;DP=2264;ExcessHet=0.0000;FS=32.122;InbreedingCoeff=-0.1053;MLEAC=1;MLEAF=0.033;MQ=34.13;MQRankSum=-3.198e+00;QD=2.37;ReadPosRankSum=-1.252e+00;SOR=2.037	GT:AD:DP:GQ:PL	0/0:142,0:142:99:0,120,1800	14	0	1	6
chr11	1097837	1097837	A	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1303597510	0.0001	0.0005	9.163e-05	0.0001	0.0007	9.15e-05	8.554e-05	0.0004	0.0003	0.0003	3.36e-05	0.0001	0.0007	0.0001	0	6.787e-05	0.0001	0.0003	7.882e-05	0.0002	0.0001	5.253e-05	0.0003	2.089e-05	1.079e-05	.	.	0.0001	0	0.0003	0	0	0	0	4.93e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	59.41	101	chr11	1097837	.	A	T	59.41	.	AC=1;AF=0.031;AN=32;BaseQRankSum=2.07;DP=2446;ExcessHet=0.0000;FS=30.254;InbreedingCoeff=-0.1103;MLEAC=1;MLEAF=0.031;MQ=34.60;MQRankSum=1.82;QD=0.59;ReadPosRankSum=-2.964e+00;SOR=3.496	GT:AD:DP:GQ:PL	0/0:146,0:146:92:0,92,4346	15	0	1	5
chr11	1098120	1098120	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	615	888	19	0	0	19	0.010585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1221177584	0.0007	0.0036	0.0007	0.0006	0.0040	0.0006	0.0006	0.0034	0.0031	0.0014	0.0006	0.0009	0.0040	0.0003	0.0007	0.0005	0.0009	0.0004	0.0017	0.0041	0.0020	0.0014	0.0042	0.0014	0.0013	0.0020	0.0017	0.0027	0	0.0010	0.0013	0.0042	0.0006	0	0.0015	0.0027	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	369.07	124	chr11	1098120	.	C	A	369.07	.	AC=2;AF=0.063;AN=32;BaseQRankSum=1.38;DP=2676;ExcessHet=0.1072;FS=2.287;InbreedingCoeff=-0.1200;MLEAC=2;MLEAF=0.063;MQ=36.93;MQRankSum=-3.180e-01;QD=1.62;ReadPosRankSum=-1.326e+00;SOR=0.375	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:107,0:107:99:.:.:0,120,1800	14	0	2	5
chr11	1098124	1098124	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	631	864	27	0	0	27	0.0153846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1320109801	0.0016	0.0060	0.0017	0.0015	0.0031	0.0015	0.0015	0.0025	0.0023	0.0012	0.0010	0.0021	0.0031	0.0020	0.0023	0.0016	0.0019	0.0007	0.0023	0.0048	0.0024	0.0022	0.0042	0.0019	0.0018	0.0018	0.0017	0.0026	0	0.0013	0.0025	0.0036	0.0014	0	0.0024	0.0037	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1111	300.66	117	chr11	1098124	.	C	T	300.66	.	AC=2;AF=0.111;AN=18;BaseQRankSum=0.399;DP=2552;ExcessHet=0.1072;FS=2.458;InbreedingCoeff=-0.2353;MLEAC=4;MLEAF=0.222;MQ=35.88;MQRankSum=-6.880e-01;QD=1.42;ReadPosRankSum=-5.510e-01;SOR=0.377	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:107,0:107:99:.:.:0,120,1800	7	0	2	12
chr11	1098224	1098224	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.386e-05	.	0	.	0	0	.	.	.	.	.	.	.	.	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	86.27	4	chr11	1098224	.	C	A	86.27	.	AC=2;AF=0.500;AN=4;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=5;MLEAF=1.00;MQ=31.95;QD=31.31;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:1098211_GA_G:81,6,0:1098211	1	1	0	19
chr11	1098518	1098518	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	658	861	3	0	0	3	0.00173913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1315730742	0.0008	0.0016	0.0008	0.0008	0.0040	0.0008	0.0007	0.0032	0.0030	0.0014	0.0004	0.0012	0.0040	0.0019	0.0003	0.0007	0.0011	0.0004	0.0007	0.0012	0.0006	0.0007	0.0050	0.0004	0.0003	0.0005	0.0004	0.0004	0	0	0	0	0	0	0.0012	0	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.125	2125.72	120	chr11	1098518	.	C	T	2125.72	.	AC=4;AF=0.125;AN=32;BaseQRankSum=-1.266e+00;DP=3397;ExcessHet=0.6776;FS=8.269;InbreedingCoeff=-0.1833;MLEAC=5;MLEAF=0.156;MQ=45.75;MQRankSum=1.12;QD=3.03;ReadPosRankSum=-3.120e+00;SOR=0.997	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,37:124:99:0|1:1098518_C_T:858,0,3319:1098518	12	0	4	5
chr11	1098538	1098538	T	C	exonic	MUC2	.	unknown	UNKNOWN,	.	.	674	844	4	0	0	4	0.00236407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169334096	0.0032	0.0055	0.0033	0.0031	0.0031	0.0031	0.0030	0.0030	0.0029	0.0010	0.0019	0.0052	0.0011	0.0223	0.0025	0.0031	0.0044	0.0012	0.0150	0.0054	0.0122	0.0179	0.0232	0.0120	0.0110	0.0178	0.0159	0.0027	0	0.0049	0.0104	0.0053	0.0249	0.1000	0.0232	0.0323	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2083	2025.55	120	chr11	1098538	.	T	C	2025.55	.	AC=5;AF=0.208;AN=24;BaseQRankSum=2.06;DP=3920;ExcessHet=1.1607;FS=0.000;InbreedingCoeff=-0.2947;MLEAC=7;MLEAF=0.292;MQ=45.13;MQRankSum=-5.024e+00;QD=2.34;ReadPosRankSum=-1.951e+00;SOR=0.571	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,21:114:99:0|1:1098518_C_T:541,0,3787:1098518	7	0	5	9
chr11	1098544	1098544	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	658	862	2	0	0	2	0.00115875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1448886114	7.358e-05	0.0003	6.518e-05	8.21e-05	0.0008	6.06e-05	5.573e-05	0.0005	0.0004	8.331e-05	9.522e-05	4.776e-05	0.0008	0.0002	0.0002	5.216e-05	0.0002	0	0	9.614e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	776.3	120	chr11	1098544	.	C	A	776.3	.	AC=4;AF=0.100;AN=40;BaseQRankSum=1.96;DP=3953;ExcessHet=0.6776;FS=10.427;InbreedingCoeff=-0.1200;MLEAC=4;MLEAF=0.100;MQ=45.11;MQRankSum=-4.687e+00;QD=1.17;ReadPosRankSum=-1.717e+00;SOR=1.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,14:109:99:0|1:1098518_C_T:302,0,3888:1098518	16	0	4	1
chr11	1098548	1098548	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	658	860	4	0	0	4	0.00232019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1371567749	0.0016	0.0017	0.0017	0.0015	0.0531	0.0015	0.0015	0.0504	0.0493	0.0531	0.0022	0.0001	0.0015	0.0006	0.0033	0.0002	0.0039	0.0001	0.0048	0.0059	0.0048	0.0048	0.0239	0.0040	0.0037	0.0198	0.0183	0.0239	0	0.0014	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1053	678.77	120	chr11	1098548	.	C	T	678.77	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.80;DP=3975;ExcessHet=0.6776;FS=8.640;InbreedingCoeff=-0.1351;MLEAC=4;MLEAF=0.105;MQ=44.89;MQRankSum=-4.819e+00;QD=1.05;ReadPosRankSum=-7.590e-01;SOR=1.554	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,14:110:99:0|1:1098518_C_T:299,0,3884:1098518	15	0	4	2
chr11	1098767	1098771	CACGG	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0007	0.0002	0.0002	0.0018	0.0002	0.0002	0.0014	0.0013	0.0007	0.0004	0.0007	0.0018	9.672e-05	0.0004	0.0001	0.0004	4.215e-05	0.0001	0.0009	0.0002	5.622e-05	0.0004	6.479e-05	5.017e-05	7.601e-05	5.563e-05	7.967e-05	0	8.734e-05	0	0.0004	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	399.27	171	chr11	1098766	.	CCACGG	C	399.27	.	AC=2;AF=0.056;AN=36;BaseQRankSum=4.93;DP=3587;ExcessHet=0.1072;FS=1.598;InbreedingCoeff=-0.0909;MLEAC=2;MLEAF=0.056;MQ=41.34;MQRankSum=-2.120e+00;QD=1.77;ReadPosRankSum=2.07;SOR=0.873	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:132,0:132:99:.:.:0,120,1800	16	0	2	3
chr11	1098773	1098905	GACACCAACCCCAACACCCACCGGCACACAGACCCCAACCCCGACACCCATCTCCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCATGACACCCATCACCACCACCACC	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.027e-05	0.0003	5.825e-05	4.206e-05	0.0003	4.015e-05	3.649e-05	0.0002	0.0001	0.0002	9.418e-05	0.0002	0.0003	9.778e-05	0	3.548e-05	5.89e-05	0	8.581e-05	0.0007	8.538e-05	8.625e-05	0.0004	4.182e-05	3.058e-05	3.976e-05	2.073e-05	0.0001	0	0.0001	0.0004	0.0004	0	0	4.23e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	218.04	171	chr11	1098772	.	TGACACCAACCCCAACACCCACCGGCACACAGACCCCAACCCCGACACCCATCTCCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCATGACACCCATCACCACCACCACC	T	218.04	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.469;DP=3726;ExcessHet=0.0000;FS=0.728;InbreedingCoeff=-0.0633;MLEAC=1;MLEAF=0.028;MQ=41.25;MQRankSum=-1.872e+00;QD=1.66;ReadPosRankSum=2.89;SOR=0.813	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:134,0:134:99:.:.:0,120,1800	17	0	1	3
chr11	1098777	1098845	CCAACCCCAACACCCACCGGCACACAGACCCCAACCCCGACACCCATCTCCACCACCACTACGGTGACC	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	639	874	7	1	1	10	0.00512237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.043e-05	7.996e-05	2.655e-05	5.474e-05	0.0003	3.027e-05	2.684e-05	0.0002	0.0001	0.0001	0	5.758e-05	0	4.211e-05	0	2.517e-05	4.912e-05	0.0003	0.0001	0.0002	8.313e-05	0.0002	0.0015	3.312e-05	1.817e-05	.	.	0	0	0	0.0015	0.0015	0	0	7.545e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	550.99	162	chr11	1098776	.	ACCAACCCCAACACCCACCGGCACACAGACCCCAACCCCGACACCCATCTCCACCACCACTACGGTGACC	A,*	550.99	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=1.03;DP=3718;ExcessHet=0.1072;FS=0.872;InbreedingCoeff=-0.1203;MLEAC=1,1;MLEAF=0.031,0.031;MQ=35.17;MQRankSum=-2.072e+00;QD=2.40;ReadPosRankSum=2.82;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:122,0,0:122:0:.:.:0,0,3354,0,3354,3354	14	0	1	5
chr11	1098776	1098845	ACCAACCCCAACACCCACCGGCACACAGACCCCAACCCCGACACCCATCTCCACCACCACTACGGTGACC	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	550.99	162	chr11	1098776	.	ACCAACCCCAACACCCACCGGCACACAGACCCCAACCCCGACACCCATCTCCACCACCACTACGGTGACC	A,*	550.99	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=1.03;DP=3718;ExcessHet=0.1072;FS=0.872;InbreedingCoeff=-0.1203;MLEAC=1,1;MLEAF=0.031,0.031;MQ=35.17;MQRankSum=-2.072e+00;QD=2.40;ReadPosRankSum=2.82;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:122,0,0:122:0:.:.:0,0,3354,0,3354,3354	14	0	1	5
chr11	1098781	1098781	C	0	exonic	MUC2	.	.	.	.	.	634	850	36	0	2	38	0.0207373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2647	3468.15	182	chr11	1098781	.	C	T,*	3468.15	.	AC=7,2;AF=0.206,0.059;AN=34;BaseQRankSum=5.51;DP=3838;ExcessHet=4.7172;FS=16.398;InbreedingCoeff=-0.3588;MLEAC=8,2;MLEAF=0.235,0.059;MQ=37.99;MQRankSum=1.81;QD=2.74;ReadPosRankSum=6.000e-03;SOR=1.779	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:139,0,0:139:0:.:.:0,0,2242,0,2242,2242	8	0	7	4
chr11	1098794	1098794	C	0	exonic	MUC2	.	.	.	.	.	660	820	40	0	2	42	0.0238095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	2288.8	166	chr11	1098794	.	C	T,*	2288.8	.	AC=8,2;AF=0.222,0.056;AN=36;BaseQRankSum=4.68;DP=3810;ExcessHet=6.1002;FS=15.276;InbreedingCoeff=-0.3771;MLEAC=9,2;MLEAF=0.250,0.056;MQ=37.26;MQRankSum=1.73;QD=1.52;ReadPosRankSum=-1.122e+00;SOR=1.864	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:125,0,0:125:0:.:.:0,0,2001,0,2001,2001	8	0	8	3
chr11	1098795	1098795	G	0	exonic	MUC2	.	.	.	.	.	679	640	201	0	2	203	0.135719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	9572.22	147	chr11	1098795	.	G	A,*	9572.22	.	AC=7,1;AF=0.194,0.028;AN=36;BaseQRankSum=2.22;DP=3836;ExcessHet=3.7745;FS=1.215;InbreedingCoeff=-0.2250;MLEAC=8,1;MLEAF=0.222,0.028;MQ=35.69;MQRankSum=-3.090e-01;QD=4.86;ReadPosRankSum=0.919;SOR=0.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:116,0,0:116:99:.:.:0,120,1800,120,1800,1800	10	0	7	3
chr11	1098812	1098812	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1962.92	133	chr11	1098812	.	C	A,*	1962.92	.	AC=9,3;AF=0.250,0.083;AN=36;BaseQRankSum=2.08;DP=3561;ExcessHet=9.6308;FS=3.400;InbreedingCoeff=-0.4724;MLEAC=10,3;MLEAF=0.278,0.083;MQ=36.45;MQRankSum=0.209;QD=1.00;ReadPosRankSum=-2.579e+00;SOR=1.127	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:101,0,0:101:0:.:.:0,0,1481,0,1481,1481	6	0	9	3
chr11	1098813	1098813	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1884.38	133	chr11	1098813	.	C	*,T	1884.38	.	AC=3,9;AF=0.083,0.250;AN=36;BaseQRankSum=2.50;DP=3551;ExcessHet=9.6308;FS=3.047;InbreedingCoeff=-0.4710;MLEAC=3,10;MLEAF=0.083,0.278;MQ=36.42;MQRankSum=-1.580e-01;QD=0.91;ReadPosRankSum=-2.579e+00;SOR=0.949	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:101,0,0:101:0:.:.:0,0,1481,0,1481,1481	6	0	3	3
chr11	1098825	1098825	T	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2308	697.62	108	chr11	1098825	.	T	A,*	697.62	.	AC=4,2;AF=0.154,0.077;AN=26;BaseQRankSum=3.00;DP=3021;ExcessHet=1.7912;FS=0.664;InbreedingCoeff=-0.3114;MLEAC=5,3;MLEAF=0.192,0.115;MQ=36.82;MQRankSum=0.477;QD=0.77;ReadPosRankSum=-2.954e+00;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:88,0,0:88:0:.:.:0,0,936,0,936,936	7	0	4	8
chr11	1098946	1098948	CAA	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	771	750	1	0	0	1	0.000666223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1410964135	0.0009	0.0025	0.0007	0.0011	0.0010	0.0008	0.0008	0.0009	0.0009	0.0002	0.0004	0.0009	0	0.0028	0	0.0010	0.0009	0.0003	0.0007	0.0011	0.0006	0.0008	0.0017	0.0006	0.0005	0.0006	0.0006	0	0	0.0004	0.0006	0	0.0019	0	0.0009	0.0025	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	589.78	54	chr11	1098945	.	CCAA	C	589.78	.	AC=2;AF=0.050;AN=40;BaseQRankSum=0.234;DP=1469;ExcessHet=0.1128;FS=3.202;InbreedingCoeff=0.1624;MLEAC=2;MLEAF=0.050;MQ=30.84;MQRankSum=0.711;QD=3.91;ReadPosRankSum=-1.172e+00;SOR=0.391	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,120,1800	18	0	2	1
chr11	1099366	1099435	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	22453.21	278	chr11	1099366	.	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	CGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC,T,*	22453.21	.	AC=8,3,2;AF=0.308,0.115,0.077;AN=26;BaseQRankSum=1.50;DP=6647;ExcessHet=1.2656;FS=0.000;InbreedingCoeff=0.0574;MLEAC=11,4,3;MLEAF=0.423,0.154,0.115;MQ=53.25;MQRankSum=-1.319e+00;QD=10.10;ReadPosRankSum=-2.293e+00;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:376,0,0,0:376:0:.:.:0,0,0,0,0,0,0,0,0,0	3	2	3	8
chr11	1099370	1099370	G	0	exonic	MUC2	.	.	.	.	.	923	13	249	324	13	910	0.971831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8571	99733.73	157	chr11	1099370	.	G	A,*	99733.73	.	AC=36,6;AF=0.857,0.143;AN=42;BaseQRankSum=2.61;DP=6688;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=36,6;MLEAF=0.857,0.143;MQ=54.00;MQRankSum=1.34;QD=23.82;ReadPosRankSum=0.267;SOR=0.336	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,224,0:226:99:.:.:6412,654,0,5368,665,5850	0	15	0	0
chr11	1099525	1099525	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	444	1077	1	0	0	1	0.000464037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.003	B	0.004	B	0.044	U	1.000	N	.	.	2.95	T	-1.005	T	0.015	T	0.199	0.696	7.714	-0.246	0.111	0.224	4.083	0.014	0.0478116854228	.	.	0.0004	0	0	0	0	0.0007	0	0.0003	7.76e-05	12	154602	rs746097670	0.0001	0.0011	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	3.451e-05	0	4.45e-05	0	2.277e-05	0.0004	0.0002	0.0001	8.25e-05	9.239e-05	0.0002	5.164e-05	0.0001	0.0002	5.551e-05	4.383e-05	9.087e-05	7.04e-05	2.417e-05	0	6.569e-05	0	0	0	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	1410.33	428	chr11	1099525	.	C	T	1410.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.618e+00;DP=8284;ExcessHet=0.0000;FS=2.183;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=55.49;MQRankSum=3.23;QD=3.43;ReadPosRankSum=0.190;SOR=0.877	GT:AD:DP:GQ:PL	0/0:530,0:530:99:0,120,1800	19	0	1	1
chr11	1099659	1099659	-	C	exonic	MUC2	.	unknown	UNKNOWN,	.	.	417	1094	10	0	1	11	0.00454959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0003	0	0	0	0.0002	0	0.0006	3.84e-05	1	26028	rs774060881	0.0012	0.0012	0.0011	0.0013	0.0053	0.0011	0.0011	0.0046	0.0044	0.0020	0.0013	0.0022	0.0053	0.0019	0.0008	0.0009	0.0019	0.0023	0.0013	0.0014	0.0012	0.0014	0.0014	0.0011	0.0011	0.0012	0.0011	0.0014	0	0.0012	0.0020	0.0004	0.0008	0	0.0014	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	8962.51	420	chr11	1099659	.	A	AC	8962.51	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.540e-01;DP=7033;ExcessHet=0.1072;FS=5.323;InbreedingCoeff=-0.0769;MLEAC=2;MLEAF=0.053;MQ=58.05;MQRankSum=-7.987e+00;QD=11.75;ReadPosRankSum=3.23;SOR=0.780	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:378,0:378:99:.:.:0,120,1800	17	0	2	2
chr11	1099661	1099661	-	CTACCGTGACCCCAACCCCAACACCCACCGGCACACAGAGTACAACCCTGACACCCATCACCACCACC	exonic	MUC2	.	unknown	UNKNOWN,	.	.	445	603	462	1	11	475	0.277844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0005	0	0	0	0.0001	0	0.0005	3.84e-05	1	26028	.	0.0006	0.0013	0.0006	0.0007	0.0032	0.0006	0.0006	0.0026	0.0024	0.0014	0.0005	0.0010	0.0032	0.0007	0.0006	0.0004	0.0010	0.0012	0.0015	0.0019	0.0012	0.0018	0.0019	0.0013	0.0012	0.0015	0.0013	0.0019	0	0.0011	0.0026	0.0006	0.0010	0	0.0015	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	23720.71	427	chr11	1099661	.	A	C,ACTACCGTGACCCCAACCCCAACACCCACCGGCACACAGAGTACAACCCTGACACCCATCACCACCACC	23720.71	.	AC=4,2;AF=0.143,0.071;AN=28;BaseQRankSum=0.167;DP=7139;ExcessHet=1.7912;FS=4.643;InbreedingCoeff=-0.2923;MLEAC=5,3;MLEAF=0.179,0.107;MQ=58.74;MQRankSum=-9.005e+00;QD=9.92;ReadPosRankSum=1.55;SOR=0.734	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:398,0,0:398:0:.:.:0,0,9650,0,9650,9650	8	0	4	7
chr11	1099675	1099675	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.001	B	0.001	B	0.122	U	1.000	N	.	.	3.3	T	-0.927	T	0.011	T	0.196	1.725	11.73	1.82	1.003	0.484	9.196	0.035	0.0193395279859	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.583e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02778	859.09	394	chr11	1099675	.	C	A	859.09	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-2.933e+00;DP=6591;ExcessHet=0.0000;FS=7.020;InbreedingCoeff=-0.0633;MLEAC=1;MLEAF=0.028;MQ=59.44;MQRankSum=-1.275e+01;QD=2.33;ReadPosRankSum=2.20;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:359,0:359:99:.:.:0,120,1800	17	0	1	3
chr11	1099776	1099776	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.0	B	0.001	B	.	.	1.000	N	.	.	3.1	T	-0.979	T	0.013	T	0.145	-4.178	0.001	-2.65	-5.510	-5.137	3.945	0.009	0.0392152609865	.	0.000599042	0.0003	0.0002	0	0	0	3.035e-05	0	0.0020	0.0002458	38	154602	rs551228370	0.0001	0.0001	0.0001	0.0002	0.0017	0.0001	0.0001	0.0015	0.0014	2.987e-05	0	0	0	0	0.0003	2.969e-05	0.0002	0.0017	0.0001	0.0001	7.714e-05	0.0001	0.0012	6.511e-05	5.322e-05	0.0005	0.0004	0.0002	0	0	0	0	0	0	2.942e-05	0	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	5527.98	43	chr11	1099776	.	C	T	5527.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.178e+00;DP=3175;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.58;ReadPosRankSum=0.635;SOR=0.683	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr11	1099851	1099851	C	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.006	B	0.002	B	.	.	1.000	N	0.345	N	3.27	T	-0.933	T	0.011	T	0.134	-1.821	0.009	-0.844	0.094	-1.678	4.571	0.012	0.012106942887	.	.	8.291e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs765730473	3.353e-05	3.352e-05	3.54e-05	3.164e-05	4.317e-05	2.567e-05	2.313e-05	3.344e-05	2.956e-05	0	0	0	0	0	0	4.317e-05	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3689.98	43	chr11	1099851	.	C	G	3689.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.429e+00;DP=1599;ExcessHet=0.0000;FS=1.354;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.02;ReadPosRankSum=1.35;SOR=0.609	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr11	1102596	1102596	C	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.898	P	0.472	P	.	.	1.000	N	0.35	N	0.68	T	-1.006	T	0.081	T	0.162	1.688	11.60	-0.785	-0.008	0.044	13.781	0.102	0.00882366438609	.	.	5.026e-05	0.0001	8.679e-05	0	0	6.098e-05	0	0	3.88e-05	6	154602	rs779527580	6.026e-05	6.02e-05	6.404e-05	5.644e-05	0.0002	4.966e-05	4.631e-05	5.623e-05	5.196e-05	5.974e-05	2.236e-05	0	7.557e-05	0	0.0002	6.926e-05	6.628e-05	0	5.254e-05	5.252e-05	3.852e-05	6.721e-05	0.0001	2.556e-05	1.829e-05	3.761e-05	2.574e-05	0	0	0.0001	0	0	0	0	8.817e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999992	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-1.0062	0.28095	T	0.081	0.32090	T	9	0.10357955	0.19048	T	0.008824	0.23269	T	.	.	.	.	.	.	0.2156394443519796	0.21479	.	.	0.458770096302	0.33141	T	0.026614	0.19659	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.23952	B	.	.	1.863782	0.23674	16.11	0.98494126503951751	0.42132	0.19307	0.20609	N	AEFDBI	0.228325	0.35201	N	-0.625924883890172	0.18168	0.9410923	-0.726032395337505	0.16313	0.8624128	0.017691220320077	0.12979	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.95	-0.785	0.10397	-0.145000	0.10248	-1.465000	0.05378	0.467000	0.21759	0.001000	0.13787	0.000000	0.08366	0.965000	0.52897	0.6681:0.3319:0.0:0.0	13.781	0.62569	970	0.06235	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1388.98	33	chr11	1102596	.	C	G	1388.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.785e+00;DP=853;ExcessHet=0.0000;FS=8.628;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.11;ReadPosRankSum=0.609;SOR=1.440	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1353	20	0	1	0
chr11	1164457	1164457	G	A	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon9:c.G1054A:p.A352T,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.004	B	0.008	B	.	.	.	.	0.975	L	-2.72	D	-0.659	T	0.424	T	0.193	-2.266	0.004	-3.8	-1.262	-4.485	0.82	0.254	.	.	.	1.855e-05	0	0	0.0001	0	1.69e-05	0	0	1.29e-05	2	154602	rs79652017	5.755e-05	5.883e-05	6.407e-05	5.097e-05	6.837e-05	4.75e-05	4.373e-05	5.599e-05	5.112e-05	0	2.244e-05	0	0	0	0	6.837e-05	0.0001	0	3.943e-05	3.94e-05	3.854e-05	4.035e-05	0.0001	1.715e-05	1.129e-05	2.261e-05	9.07e-06	2.413e-05	0	0.0001	0	0	0	0	4.41e-05	0	0	.	.	.	0.615	0.07568	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.04307	-0.6588	0.62329	T	0.424	0.76843	T	8	0.04771945	0.04127	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.5128507024590909	0.51207	.	.	.	.	.	0.076424	0.35416	T	-0.377494	0.03230	T	-0.607562	0.12184	T	0.0296324434389402	0.01933	T	.	.	.	0.014783213	0.00108	0.07252558	0.15656	0.014783213	0.00107	0.07252558	0.15656	-3.152	0.11903	T	.	.	0.064	0.01645	B	.	.	-0.473271	0.01953	0.168	0.57026317870541587	0.05679	0.00964	0.03693	N	AEFDBI	0.038249	0.05385	N	-1.88213309350233	0.00374	0.01605197	-1.96923837553061	0.00355	0.01568102	0.133434359732838	0.17135	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	2.68	-3.8	0.04025	-3.400000	0.00537	-7.356000	0.01174	-0.802000	0.03151	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3668:0.1068:0.2631:0.2633	0.82	0.01039	.	.	Trypsin Inhibitor-like, cysteine rich domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1056.98	40	chr11	1164457	.	G	A	1056.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=938;ExcessHet=0.0000;FS=0.772;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.13;ReadPosRankSum=-1.478e+00;SOR=0.582	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr11	1174572	1174572	C	G	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon17:c.C2042G:p.A681G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.24883	.	.	.	.	.	.	.	0.3465731	0.51609	T	.	.	.	.	.	.	.	.	.	0.22113586356628534	0.22028	.	.	.	.	.	0.432112	0.78000	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.864	0.78906	D	.	.	0.198	0.42067	B	.	.	1.996753	0.25370	16.74	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.637000	0.46219	2.646000	0.33784	-0.180000	0.10397	0.982000	0.35529	1.000000	0.68203	0.006000	0.07323	.	.	.	.	.	Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2173.98	33	chr11	1174572	.	C	G	2173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.280e-01;DP=863;ExcessHet=0.0000;FS=0.616;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.89;ReadPosRankSum=-9.570e-01;SOR=0.637	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1462	20	0	1	0
chr11	1183397	1183397	A	C	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon31:c.A5252C:p.K1751T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879044939	0.0013	0.0017	0.0013	0.0012	0.0056	0.0012	0.0012	0.0046	0.0042	0.0056	0.0016	0.0022	0.0010	0.0002	0.0011	0.0012	0.0011	0.0010	0.0017	0.0030	0.0020	0.0015	0.0039	0.0015	0.0015	0.0034	0.0032	0.0039	0	0.0017	0.0023	0.0010	9.769e-05	0	0.0009	0.0010	0.0014	.	.	.	0.278	0.21812	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.18920	.	.	.	.	.	.	.	0.11319095	0.21256	T	.	.	.	.	.	.	.	.	.	0.23099261919374284	0.23014	.	.	.	.	.	0.045885	0.27258	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.694	0.00717	T	.	.	0.316	0.54183	B	.	.	0.669962	0.10384	7.109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.009000	0.29487	-0.836000	0.07236	0.349000	0.19912	0.000000	0.06391	0.000000	0.08366	0.074000	0.16894	.	.	.	.	.	WxxW domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	908.98	135	chr11	1183397	.	A	C	908.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.86;DP=3024;ExcessHet=0.0000;FS=39.179;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=51.59;MQRankSum=-1.137e+01;QD=2.94;ReadPosRankSum=-4.930e-01;SOR=2.657	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	20	0	1	0
chr11	1184497	1184497	C	A	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon31:c.C6352A:p.P2118T,	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1403306679	6.078e-06	1.272e-05	4.346e-06	7.591e-06	3.651e-05	1.62e-06	4.5e-07	1.15e-06	4.3e-07	0	3.651e-05	0	0	0	0	6.91e-06	0	0	1.971e-05	1.97e-05	2.57e-05	1.345e-05	6.544e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.544e-05	0	0	0	0	2.94e-05	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.13484	.	.	.	.	.	.	.	0.17039624	0.31701	T	.	.	.	.	.	.	.	.	.	0.13737709937010462	0.13661	.	.	.	.	.	0.511669	0.82748	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.302	0.81288	D	.	.	0.206	0.43227	B	.	.	1.066217	0.14482	11.05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.105000	0.10876	1.589000	0.27519	0.429000	0.20894	0.000000	0.06391	0.002000	0.18203	0.012000	0.09680	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	5542.98	114	chr11	1184497	.	C	A	5542.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.400e-02;DP=3172;ExcessHet=0.0000;FS=2.479;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.80;MQRankSum=-1.762e+00;QD=12.46;ReadPosRankSum=-6.150e-01;SOR=0.515	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1620	20	0	1	0
chr11	1185059	1185059	G	0	exonic	MUC5AC	.	.	.	.	.	444	914	43	0	121	164	0.0229824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2812	12884.83	715	chr11	1185059	.	G	A,*	12884.83	.	AC=3,6;AF=0.094,0.188;AN=32;BaseQRankSum=5.90;DP=14044;ExcessHet=4.7172;FS=6.096;InbreedingCoeff=-0.3770;MLEAC=4,7;MLEAF=0.125,0.219;MQ=58.38;MQRankSum=-1.742e+01;QD=2.15;ReadPosRankSum=-2.445e+00;SOR=1.196	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:901,0,0:901:0:.:.:0,0,6104,0,6104,6104	7	0	3	5
chr11	1185292	1185292	G	A	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon31:c.G7147A:p.A2383T,	.	.	457	1063	2	0	0	2	0.00093985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1343880081	5.782e-06	4.772e-06	8.515e-06	3.522e-06	0.0003	1.54e-06	4.3e-07	.	.	0	0	0	0	0	0.0003	0	7.07e-05	0	0	1.332e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.385	0.15746	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.07811	.	.	.	.	.	.	.	0.05926624	0.07098	T	.	.	.	.	.	.	.	.	.	0.08424292622584172	0.08358	.	.	.	.	.	0.027712	0.20236	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.486	0.50178	T	.	.	0.070	0.03588	B	.	.	-0.532775	0.01765	0.134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.165000	0.00635	-7.785000	0.01086	-0.847000	0.02749	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	13372.02	702	chr11	1185292	.	G	A	13372.02	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-5.896e+00;DP=16393;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0909;MLEAC=1;MLEAF=0.031;MQ=59.98;MQRankSum=-1.359e+00;QD=13.08;ReadPosRankSum=-8.170e-01;SOR=0.695	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:1346,0:1346:0:.:.:0,0,23186	15	0	1	5
chr11	1186263	1186263	-	AGCACAACCTCTGCTCCCACAACA	exonic	MUC5AC	.	nonframeshift insertion	MUC5AC:NM_001304359:exon31:c.8118_8119insAGCACAACCTCTGCTCCCACAACA:p.T2724_I2725insTSAPTTST,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.013e-05	1.113e-05	1.854e-05	3.098e-06	0.0002	3.64e-06	2.39e-06	3.75e-06	1.86e-06	0	0	0	0	0	0.0002	1.178e-05	3.093e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	11744.94	787	chr11	1186263	.	C	CAGCACAACCTCTGCTCCCACAACA	11744.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=15664;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.50;MQRankSum=-9.387e+00;QD=18.24;ReadPosRankSum=0.256;SOR=0.708	GT:AD:DP:GQ:PL	0/0:1040,0:1040:99:0,120,1800	20	0	1	0
chr11	1188970	1188970	C	T	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon31:c.C10825T:p.L3609F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1240366632	5.478e-06	4.771e-06	3.979e-06	6.749e-06	0.0003	1.46e-06	4e-07	1.04e-06	3.9e-07	0	0	0	0	0	0.0003	6.28e-06	0	0	1.316e-05	1.313e-05	2.572e-05	0	2.943e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.943e-05	0	0	.	.	.	0.617	0.07518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.09490	.	.	.	.	.	.	.	0.043008894	0.03107	T	.	.	.	.	.	.	.	0.43046518545	0.42661	0.01614912686270799	0.01570	.	.	.	.	.	0.02113	0.16509	T	-0.102037	0.36089	T	-0.384346	0.35214	T	.	.	.	.	.	.	0.06644932	0.14300	0.14199455	0.33796	0.06644932	0.14300	0.14199455	0.33795	-9.547	0.71151	D	.	.	0.338	0.55747	B	.	.	0.127566	0.05237	1.743	0.82953174971998467	0.14463	0.17370	0.19808	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.983964827925931	0.30642	0.067872	0.01466	2	0.086529	0.02451	2	0.05767	0.00357	2	0.083433	0.02327	0	0.143587	0.26943	4.84	-1.45	0.08365	-2.595000	0.00970	-20.000000	0.00162	0.386000	0.20455	0.000000	0.06391	0.000000	0.08366	0.927000	0.46353	0.1072:0.5101:0.0:0.3827	7.026	0.24119	.	.	WxxW domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3213.98	274	chr11	1188970	.	C	T	3213.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.96;DP=5984;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.46;MQRankSum=-1.270e+00;QD=5.68;ReadPosRankSum=-1.409e+00;SOR=0.684	GT:AD:DP:GQ:PL	0/0:241,0:241:99:0,120,1800	20	0	1	0
chr11	1189439	1189439	C	T	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon31:c.C11294T:p.T3765M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1264212665	0.0001	0.0001	9.535e-05	0.0002	0.0007	9.637e-05	8.724e-05	0.0005	0.0004	0	5.926e-05	0	0.0007	0	0	7.873e-06	0.0003	0.0005	7.257e-05	7.23e-05	9.028e-05	5.403e-05	0.0012	3.987e-05	3.139e-05	0.0005	0.0003	2.424e-05	0	0	0	0.0012	0	0	2.946e-05	0	0.0004	.	.	.	0.111	0.37173	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.12055	.	.	.	.	.	.	.	0.046437293	0.03834	T	.	.	.	.	.	.	.	.	.	0.1508126989759556	0.15003	.	.	.	.	.	0.093644	0.39254	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.385	0.70141	D	.	.	0.171	0.37577	B	.	.	0.102566	0.05038	1.585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.676000	0.00912	-4.244000	0.02260	-2.328000	0.00314	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	9478.98	274	chr11	1189439	.	C	T	9478.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.964;DP=7658;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=1.06;SOR=0.712	GT:AD:DP:GQ:PL	0/0:241,0:241:99:0,120,1800	20	0	1	0
chr11	1189853	1189853	A	C	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon31:c.A11708C:p.K3903T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1425401973	8.201e-06	0.0001	7.235e-06	9.002e-06	7.213e-05	2.4e-06	1.75e-06	2.806e-05	1.829e-05	0	0	0	0	0	0	0	0	7.213e-05	1.317e-05	6.573e-05	2.577e-05	0	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.472e-05	0	0.0002	.	.	.	0.577	0.08594	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.04426	.	.	.	.	.	.	.	0.070683986	0.10316	T	.	.	.	.	.	.	.	.	.	0.058845599519644284	0.05825	.	.	.	.	.	0.021039	0.16455	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.654	0.18641	T	.	.	0.083	0.08997	B	.	.	0.139062	0.05334	1.820	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.390000	0.07392	-1.816000	0.04673	-2.565000	0.00244	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2784.98	274	chr11	1189853	.	A	C	2784.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.60;DP=8601;ExcessHet=0.0000;FS=3.820;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.69;MQRankSum=-7.164e+00;QD=2.97;ReadPosRankSum=-7.746e+00;SOR=1.115	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:241,0:241:99:.:.:0,120,1800	20	0	1	0
chr11	1189864	1189864	G	T	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon31:c.G11719T:p.A3907S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.52e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.813	0.03910	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.04188	.	.	.	.	.	.	.	0.046476483	0.03843	T	.	.	.	.	.	.	.	.	.	0.05192352019149009	0.05134	.	.	.	.	.	0.029493	0.21121	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.013	0.54129	T	.	.	0.088	0.11654	B	.	.	-1.145090	0.00589	0.015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.712000	0.00433	-20.000000	0.00162	-6.873000	0.00002	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	867.98	274	chr11	1189864	.	G	T	867.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.05;DP=8564;ExcessHet=0.0000;FS=17.043;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.62;MQRankSum=-7.491e+00;QD=0.95;ReadPosRankSum=-7.079e+00;SOR=3.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:241,0:241:99:.:.:0,120,1800	20	0	1	0
chr11	1191075	1191146	AACTAGCACAACCTCTGGTCCTGGAACTACTCCCAGCCCTGTTCCCACCACCAGCACAACCTCTGCTCCTAT	-	exonic	MUC5AC	.	nonframeshift deletion	MUC5AC:NM_001304359:exon31:c.12930_13001del:p.T4319_G4342del,	.	.	444	1059	3	0	16	19	0.00141443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.02e-05	0.0038	2.593e-05	3.374e-05	0.0002	1.887e-05	1.556e-05	8.261e-05	5.007e-05	0.0002	0	0	5.705e-05	2.702e-05	0	1.76e-05	6.279e-05	4.44e-05	0.0020	0.0043	0.0020	0.0019	0.0025	0.0018	0.0017	0.0022	0.0021	0.0014	0.0011	0.0013	0.0017	0.0012	0.0031	0.0034	0.0025	0.0014	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	434.94	693	chr11	1191074	.	CAACTAGCACAACCTCTGGTCCTGGAACTACTCCCAGCCCTGTTCCCACCACCAGCACAACCTCTGCTCCTAT	C	434.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.390e-01;DP=13822;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.29;MQRankSum=-2.091e+01;QD=0.29;ReadPosRankSum=-3.229e+00;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1379,0:1379:99:.:.:0,120,1800	20	0	1	0
chr11	1191078	1191078	T	0	exonic	MUC5AC	.	.	.	.	.	444	1027	30	0	21	51	0.0143954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1149.45	693	chr11	1191078	.	T	C,*	1149.45	.	AC=2,1;AF=0.056,0.028;AN=36;BaseQRankSum=1.85;DP=14543;ExcessHet=0.3300;FS=0.851;InbreedingCoeff=-0.1200;MLEAC=2,1;MLEAF=0.056,0.028;MQ=57.97;MQRankSum=-1.375e+01;QD=0.40;ReadPosRankSum=5.91;SOR=0.810	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:1400,0,0:1400:0:.:.:0,0,32178,0,32178,32178	15	0	2	3
chr11	1191185	1191185	C	G	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon31:c.C13040G:p.P4347R,	.	.	442	1071	9	0	0	9	0.0041841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1431067934	4.412e-05	0.0051	6.005e-05	3.097e-05	5.7e-05	3.068e-05	2.606e-05	3.642e-05	3.029e-05	0	0	0	0	0.0002	0	5.7e-05	3.159e-05	0	0.0004	0.0036	0.0004	0.0004	0.0007	0.0003	0.0003	0.0005	0.0004	7.433e-05	0	0.0003	0.0003	0	0.0006	0.0035	0.0007	0.0010	0.0002	.	.	.	0.343	0.17857	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.23125	.	.	.	.	.	.	.	0.096613884	0.17342	T	.	.	.	.	.	.	.	.	.	0.11661188044219233	0.11589	.	.	.	.	.	0.048077	0.27912	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.804	0.72730	D	.	.	0.115	0.23077	B	.	.	1.000330	0.13788	10.34	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.226000	0.32167	-2.196000	0.04073	0.290000	0.18761	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1383.98	840	chr11	1191185	.	C	G	1383.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.529e+00;DP=15849;ExcessHet=0.0000;FS=1.869;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.10;MQRankSum=-1.293e+01;QD=1.79;ReadPosRankSum=3.17;SOR=0.734	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1452,0:1452:99:.:.:0,120,1800	20	0	1	0
chr11	1191195	1191195	-	GCCAGCACAACCTTTGCTCCTACA	exonic	MUC5AC	.	nonframeshift insertion	MUC5AC:NM_001304359:exon31:c.13050_13051insGCCAGCACAACCTTTGCTCCTACA:p.T4350_T4351insASTTFAPT,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.543e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1319.94	840	chr11	1191195	.	C	CGCCAGCACAACCTTTGCTCCTACA	1319.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.740e-01;DP=15923;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.41;MQRankSum=-1.943e+00;QD=1.90;ReadPosRankSum=1.63;SOR=1.386	GT:AD:DP:GQ:PL	0/0:1452,0:1452:99:0,120,1800	20	0	1	0
chr11	1191642	1191642	T	0	exonic	MUC5AC	.	.	.	.	.	504	823	191	3	1	198	0.106891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	9561.57	753	chr11	1191642	.	T	*,A	9561.57	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=0.214;DP=11227;ExcessHet=0.0082;FS=1.736;InbreedingCoeff=0.3778;MLEAC=3,1;MLEAF=0.075,0.025;MQ=53.89;MQRankSum=1.86;QD=5.67;ReadPosRankSum=0.701;SOR=0.852	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:888,0,0:888:99:.:.:0,120,1800,120,1800,1800	17	0	2	1
chr11	1198893	1198893	C	T	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon44:c.C16193T:p.S5398L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.431e-05	0	0	0	0	4.606e-05	0	0	3.84e-05	1	26028	rs749821020	1.166e-05	1.59e-05	7.329e-06	1.526e-05	1.741e-05	4.85e-06	3.12e-06	7.26e-06	5.11e-06	0	0	0	0	0	0	1.741e-05	3.084e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.32370	.	.	.	.	.	.	.	0.22717056	0.39590	T	.	.	.	.	.	.	.	0.649541849935	0.64662	0.8630058042431477	0.86264	.	.	.	.	.	0.206322	0.56563	T	-0.109766	0.34807	T	-0.395448	0.33915	T	.	.	.	.	.	.	0.19420563	0.41160	0.34626067	0.60297	0.19420563	0.41160	0.34626067	0.60296	-5.555	0.42379	T	.	.	0.327	0.54975	B	.	.	2.935958	0.39022	20.9	0.8342537755846563	0.14719	0.94805	0.62390	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999892413874963	0.45129	0.056701	0.00814	0	0.060609	0.00678	0	0.074216	0.02223	0	0.062806	0.01542	0	0.648001	0.41719	5.12	4.17	0.48303	0.818000	0.26952	2.307000	0.32053	0.567000	0.28720	0.295000	0.25279	0.976000	0.30059	0.085000	0.17524	0.1732:0.8268:0.0:0.0	12.005	0.52543	.	.	VWFC domain|VWFC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	895.98	87	chr11	1198893	.	C	T	895.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.063;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.30;ReadPosRankSum=-8.740e-01;SOR=0.782	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1145	20	0	1	0
chr11	1226857	1226857	G	A	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon4:c.G442A:p.V148I,	.	.	419	1075	27	1	0	29	0.0133089	.	.	175096	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.886	P	0.431	B	.	.	1.000	N	1.55	L	-0.29	T	-0.773	T	0.170	T	0.06	-0.499	1.710	-3.73	-0.685	-0.267	11.339	0.162	.	0.0073	0.00499201	0.0102	0.0026	0.0071	0	0.0160	0.0130	0.0112	0.0082	0.0091849	1420	154602	rs56293203	0.0099	0.0099	0.0097	0.0102	0.0248	0.0098	0.0097	0.0215	0.0202	0.0020	0.0060	0.0079	5.04e-05	0.0168	0.0248	0.0106	0.0085	0.0075	0.0084	0.0084	0.0083	0.0084	0.0120	0.0080	0.0078	0.0113	0.0110	0.0021	0.0022	0.0071	0.0058	0	0.0166	0.0137	0.0120	0.0152	0.0066	0.162	0.23541	T	.	.	.	0.002	0.09854	B	0.006	0.12133	B	.	.	.	.	0.999997	0.08975	N	1.085	0.27262	L	-0.29	0.67712	T	-0.73	0.20576	N	0.115	0.10340	-0.7727	0.56709	T	0.170	0.51020	T	9	0.0045601726	0.00095	T	.	.	.	0.162	0.41843	.	.	0.117191471859	0.11215	0.5773453042548944	0.57663	.	.	0.247350245714	0.03494	T	0.020929	0.16390	T	-0.548187	0.00299	T	-0.548533	0.17466	T	0.00244819744290527	0.00025	T	0.528347	0.17454	T	0.046239134	0.07704	0.09315256	0.21988	0.046239134	0.07704	0.09315256	0.21988	-6.032	0.46546	T	.	.	0.067	0.02458	B	.	.	0.349301	0.07226	3.820	0.57689718243420318	0.05825	0.04088	0.09549	N	AEFDBCI	0.081998	0.16599	N	-1.14863621935008	0.05802	0.2654677	-1.33051783104018	0.04041	0.189778	0.0210642125102472	0.13316	0.422189	0.06491	0	0.547309	0.14657	0	0.600433	0.31921	0	0.691587	0.68394	0	.	.	3.68	-3.73	0.04112	-0.180000	0.09747	-1.728000	0.04836	-0.845000	0.02763	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.462:0.0:0.538:0.0	11.339	0.48763	964	0.07719	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	RASSF7	Spleen	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1388.98	42	chr11	1226857	.	G	A	1388.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.502e+00;DP=852;ExcessHet=0.0000;FS=4.388;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.17;ReadPosRankSum=-5.800e-01;SOR=0.350	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr11	1230985	1230985	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon13:c.C1520T:p.T507M,	.	.	413	1104	5	0	0	5	0.00225938	.	.	3208236	MUC5B-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.984	D	.	.	0.970	N	2.175	M	0.22	T	-0.618	T	0.361	T	0.384	1.955	12.49	3.93	1.726	3.418	13.105	0.219	0.174036604187	0.0007	.	0.0015	0.0005	0.0013	0	0	0.0022	0.0030	0.0008	0.0007503	116	154602	rs201605309	0.0011	0.0011	0.0011	0.0011	0.0016	0.0010	0.0010	0.0011	0.0011	6.038e-05	0.0009	0.0003	2.578e-05	0.0003	0.0016	0.0012	0.0012	0.0013	0.0006	0.0006	0.0007	0.0006	0.0012	0.0005	0.0005	0.0008	0.0007	0.0001	0	0.0012	0	0	0	0	0.0010	0.0009	0.0010	0.004	0.65419	D	.	.	.	0.999	0.77913	D	0.871	0.61869	P	.	.	.	.	0.969537	0.25749	N	1.91	0.51138	L	0.22	0.59851	T	-5.23	0.83899	D	0.282	0.31925	-0.6178	0.64080	T	0.361	0.72292	T	9	0.064716905	0.08624	T	0.174037	0.85055	D	0.219	0.51417	.	.	0.253981072376	0.25009	0.6745287751686656	0.67390	.	.	0.388388991356	0.23443	T	0.032324	0.22435	T	-0.360938	0.04077	T	-0.298502	0.44883	T	0.0646026534696813	0.07872	T	0.848715	0.53056	T	0.2440386	0.47348	0.39387026	0.64095	0.2440386	0.47348	0.39387026	0.64095	-6.997	0.54012	T	.	.	0.139	0.30397	B	.	.	3.495907	0.48888	22.7	0.96289378802939918	0.29308	0.85483	0.44620	D	AEFDBHCI	0.393077	0.47087	N	0.45786355766953	0.64651	4.724452	0.366562106708076	0.59513	4.129639	0.749754456954727	0.23341	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	3.93	3.93	0.44666	3.483000	0.52958	2.525000	0.33139	0.513000	0.23382	0.611000	0.27839	0.986000	0.30841	0.272000	0.23818	0.0:1.0:0.0:0.0	13.105	0.58659	970	0.06235	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1166.98	33	chr11	1230985	.	C	T	1166.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.68;DP=814;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=-2.890e-01;SOR=0.698	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1073	20	0	1	0
chr11	1233087	1233087	G	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon18:c.G2140T:p.G714C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.964	D	.	.	1.000	N	1.385	L	-2.73	D	-0.017	T	0.707	D	0.269	0.279	5.512	-4.25	-0.499	1.525	7.921	0.305	0.217444228226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.872e-07	2.052e-06	1.368e-06	0	.	0	0	.	.	0	0	0	0	2.071e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	.	.	.	0.97	0.56973	D	0.79	0.57710	P	.	.	.	.	1	0.08975	N	1.79	0.46772	L	-2.73	0.90679	D	-2.92	0.61129	D	0.313	0.35301	-0.0169	0.81903	T	0.707	0.89933	D	9	0.22654334	0.39512	T	0.217444	0.87609	D	0.305	0.62620	.	.	0.206203607746	0.20212	0.9058611395536527	0.90559	.	.	0.424123942852	0.28404	T	0.133315	0.46392	T	0.0599127	0.59602	T	-0.151716	0.59091	T	0.589309096336365	0.35979	D	0.781422	0.41649	T	0.25329432	0.48351	0.20075594	0.44023	0.25329432	0.48351	0.20075594	0.44022	-7.421	0.57052	T	.	.	0.429	0.61130	A	.	.	1.375924	0.17868	13.41	0.79341005134608811	0.12698	0.00796	0.03248	N	AEFDBHI	0.098871	0.19913	N	-0.473528752376496	0.22951	1.229067	-0.740716702087102	0.15951	0.8414552	0.0278558632417337	0.13798	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.86	-4.25	0.03508	1.467000	0.34930	-0.195000	0.11000	0.614000	0.49286	0.019000	0.19563	0.000000	0.08366	0.023000	0.12082	0.1544:0.0:0.2788:0.5668	7.921	0.29010	970	0.06235	Trypsin Inhibitor-like, cysteine rich domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	856.98	38	chr11	1233087	.	G	T	856.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.940e-01;DP=857;ExcessHet=0.0000;FS=1.615;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.24;ReadPosRankSum=1.30;SOR=0.527	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1317	20	0	1	0
chr11	1242824	1242824	C	G	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C5944G:p.P1982A,	.	.	405	1100	17	0	0	17	0.00766802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	-0.255	N	2.38	T	-0.998	T	0.021	T	0.041	-0.566	1.447	-4.39	-2.074	-3.476	5.956	0.007	0.00204751639038	.	.	0.0004	0.0010	0.0002	0.0007	0.0005	0.0003	0	0.0004	3.84e-05	1	26028	rs2943508	0.0003	0.0017	0.0003	0.0003	0.0035	0.0003	0.0003	0.0030	0.0028	0.0035	0.0005	0.0030	0.0002	0.0008	0.0005	0.0001	0.0007	0.0003	0.0010	0.0026	0.0010	0.0009	0.0025	0.0008	0.0008	0.0021	0.0019	0.0025	0	0.0007	0.0020	0.0004	0.0005	0	0.0002	0.0010	0.0004	0.451	0.08969	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.31	0.00704	N	2.2	0.18570	T	-0.36	0.13035	N	0.035	0.01004	-0.9975	0.30618	T	0.021	0.08732	T	9	0.011864901	0.00257	T	0.002048	0.03748	T	0.007	0.00512	.	.	0.043077524339	0.03247	0.1337540641421184	0.13299	.	.	0.186318874359	0.00167	T	0.021853	0.16945	T	-0.731628	0.00023	T	-0.864242	0.00798	T	0.00157244652876611	0.00016	T	0.393961	0.09832	T	0.016689507	0.00215	0.03362263	0.02287	0.016689507	0.00215	0.03362263	0.02286	1.354	0.00095	T	.	.	0.048	0.00082	B	.	.	-1.101744	0.00638	0.017	0.5472258365673961	0.05195	0.00061	0.00447	N	AEFI	0.022417	0.01117	N	-1.81075945752716	0.00519	0.02235286	-1.90839802135919	0.00471	0.02086687	0.00724884832373696	0.11420	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.2	-4.39	0.03360	-4.721000	0.00225	-5.355000	0.01750	-1.493000	0.01042	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.101:0.5607:0.2191:0.1191	5.956	0.18508	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	627.11	84	chr11	1242824	.	C	G	627.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.203e+00;DP=3187;ExcessHet=0.1072;FS=2.691;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=55.35;MQRankSum=-1.119e+01;QD=0.62;ReadPosRankSum=1.22;SOR=0.459	GT:AD:DP:GQ:PL	0/0:146,0:146:99:0,120,1800	19	0	2	0
chr11	1243062	1243062	C	G	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C6182G:p.A2061G,	.	.	424	926	82	2	88	174	0.0443756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.006	B	0.004	B	.	.	1.000	N	2.015	M	2.45	T	-0.984	T	0.040	T	0.06	0.243	5.315	-1.97	-0.202	0.106	5.827	0.030	.	.	0.00898562	0.0119	0.0017	0.0069	0.0002	0.0003	0.0111	0.0237	0.0347	0.0008732	135	154602	rs61997210	0.0093	0.0093	0.0083	0.0104	0.0494	0.0092	0.0091	0.0446	0.0428	0.0019	0.0074	0.0427	0.0001	0.0007	0.0494	0.0071	0.0130	0.0357	0.0074	0.0074	0.0071	0.0078	0.0282	0.0071	0.0069	0.0243	0.0229	0.0017	0.0033	0.0098	0.0383	0.0002	0.0007	0.0884	0.0084	0.0142	0.0282	0.063	0.36709	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.34	0.67151	M	2.26	0.17596	T	-0.93	0.24898	N	0.038	0.01203	-0.9838	0.34116	T	0.040	0.17191	T	9	0.003387034	0.00059	T	.	.	.	0.030	0.07022	.	.	.	.	0.11933029641628383	0.11860	.	.	0.172272831202	0.00042	T	0.022813	0.17520	T	-0.712371	0.00031	T	-0.770285	0.02758	T	0.00459172025389433	0.00049	T	0.618038	0.23687	T	0.04650555	0.07794	0.055332977	0.09686	0.04650555	0.07793	0.055332977	0.09686	-6.395	0.49471	T	.	.	0.139	0.30318	B	.	.	-0.149876	0.03357	0.595	0.51709723328190837	0.04612	0.06366	0.12366	N	AEFI	0.107211	0.21368	N	-1.03137825171341	0.07958	0.3714802	-1.19298340184668	0.06026	0.2888513	1.82559760139279E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	1.96	-1.97	0.07091	-1.131000	0.03349	-1.620000	0.05046	-0.400000	0.05303	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1889:0.4363:0.3747:0.0	5.827	0.17816	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.04762	4885.11	84	chr11	1243062	.	C	G	4885.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.863;DP=2602;ExcessHet=0.1072;FS=1.633;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=50.59;MQRankSum=-1.111e+00;QD=12.31;ReadPosRankSum=0.594;SOR=0.789	GT:AD:DP:GQ:PL	0/0:146,0:146:99:0,120,1800	19	0	2	0
chr11	1243366	1243398	GACCACCACCGCCACCACACCTGCAGCCACCAG	-	exonic	MUC5B	.	nonframeshift deletion	MUC5B:NM_002458:exon31:c.6486_6518del:p.T2163_S2173del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0004	0	0	0	0.0003	0	0.0001	0.0002689	7	26028	rs746061288	0.0012	0.0065	0.0013	0.0012	0.0013	0.0012	0.0011	0.0012	0.0012	0.0001	0.0001	0.0011	0	0.0044	0.0005	0.0013	0.0010	0.0003	0.0011	0.0025	0.0012	0.0010	0.0016	0.0010	0.0009	0.0013	0.0012	0.0006	0	0.0003	0.0015	0	0.0025	0	0.0016	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	119.94	84	chr11	1243365	.	TGACCACCACCGCCACCACACCTGCAGCCACCAG	T	119.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.35;DP=2002;ExcessHet=0.0000;FS=3.433;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.58;MQRankSum=-3.261e+00;QD=2.00;ReadPosRankSum=-3.041e+00;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:128,0:128:99:.:.:0,120,1800	20	0	1	0
chr11	1243403	1243455	ACAGTGACTCCCTCCTCTGCCCTAGGGACCACCCACACACCCCCAGTGCCGAA	-	exonic	MUC5B	.	frameshift deletion	MUC5B:NM_002458:exon31:c.6523_6575del:p.T2175Hfs*66,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0003	0	0.0001	0.0002689	7	26028	.	0.0044	0.0062	0.0046	0.0042	0.0049	0.0043	0.0043	0.0048	0.0047	0.0005	0.0005	0.0038	0	0.0102	0.0008	0.0049	0.0037	0.0009	0.0011	0.0027	0.0011	0.0010	0.0014	0.0009	0.0009	0.0012	0.0011	0.0006	0	0.0004	0.0012	0	0.0024	0	0.0014	0.0021	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	180.94	84	chr11	1243402	.	CACAGTGACTCCCTCCTCTGCCCTAGGGACCACCCACACACCCCCAGTGCCGAA	C	180.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.391;DP=1592;ExcessHet=0.0000;FS=4.067;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=41.01;MQRankSum=-2.793e+00;QD=4.52;ReadPosRankSum=-1.979e+00;SOR=0.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:64,0:64:99:.:.:0,120,1800	20	0	1	0
chr11	1243709	1243709	A	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.A6829T:p.T2277S,	.	.	476	1043	3	0	0	3	0.00143609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.246	B	0.088	B	.	.	1.000	N	1.59	L	1.98	T	-1.027	T	0.054	T	0.147	0.724	7.849	1.6	0.208	0.103	7.308	0.015	0.00398141172649	.	0.000998403	0.0009	0	8.643e-05	0	0	3.005e-05	0	0.0067	0.0001921	5	26028	rs566783011	0.0004	0.0004	0.0002	0.0006	0.0066	0.0004	0.0004	0.0062	0.0060	0	0	0	2.519e-05	0	0.0021	1.259e-05	0.0004	0.0066	0.0002	0.0002	6.503e-05	0.0003	0.0062	0.0001	0.0001	0.0044	0.0038	0	0	0	0	0	0	0	0	0	0.0062	0.378	0.11262	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.805	0.20218	L	1.77	0.25841	T	-0.48	0.15379	N	0.068	0.04072	-1.0267	0.21527	T	0.054	0.22959	T	9	0.0059332848	0.00133	T	0.003981	0.09431	T	0.015	0.02232	.	.	0.043077524339	0.03247	0.2536995402099471	0.25283	.	.	0.205650538206	0.00640	T	0.024053	0.18250	T	-0.590838	0.00166	T	-0.618306	0.11317	T	0.0148934294328664	0.00316	T	0.242476	0.03503	T	0.029871758	0.02553	0.032949828	0.02110	0.029871758	0.02553	0.032949828	0.02109	-4.04	0.24400	T	.	.	0.160	0.35393	B	.	.	0.685435	0.10542	7.250	0.90342315894487868	0.19607	0.00900	0.03527	N	AEFI	0.042798	0.06686	N	-0.808591940972911	0.13090	0.6424752	-0.9173952337723	0.11684	0.596749	1.28984583444717E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.99	1.6	0.22686	1.304000	0.33087	-3.234000	0.02948	0.528000	0.24546	0.012000	0.18695	0.000000	0.08366	0.025000	0.12405	0.8629:0.0:0.1371:0.0	7.308	0.25631	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3119.98	37	chr11	1243709	.	A	T	3119.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.452;DP=1412;ExcessHet=0.0000;FS=3.344;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.52;MQRankSum=1.70;QD=11.82;ReadPosRankSum=1.05;SOR=0.860	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,102,1530	20	0	1	0
chr11	1244628	1244628	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C7748T:p.T2583M,	.	.	416	1097	8	1	0	10	0.00453721	.	.	2806548	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.928	P	0.211	B	.	.	1.000	N	1.83	L	2.26	T	-1.086	T	0.033	T	0.067	-1.721	0.011	-5.13	-4.286	-7.141	3.075	0.036	.	0.0027	0.00339457	0.0033	0.0008	0.0017	0.0001	0.0036	0.0033	0.0022	0.0074	0.0002005	31	154602	rs202161651	0.0043	0.0043	0.0041	0.0044	0.0083	0.0042	0.0041	0.0078	0.0076	0.0012	0.0014	0.0001	0.0002	0.0035	0.0028	0.0044	0.0043	0.0083	0.0025	0.0026	0.0028	0.0023	0.0087	0.0023	0.0022	0.0066	0.0059	0.0008	0	0.0009	0	0.0002	0.0044	0	0.0035	0.0028	0.0087	0.282	0.15406	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.21	0.30464	L	2.08	0.20255	T	-1.08	0.28084	N	0.039	0.01274	-1.0864	0.06155	T	0.033	0.14377	T	9	0.0048601627	0.00104	T	.	.	.	0.066	0.19193	.	.	0.043077524339	0.03247	0.22064963588145486	0.21979	.	.	0.158627107739	0.00009	T	0.02293	0.17591	T	-0.706646	0.00033	T	-0.782134	0.02390	T	0.00843831206501485	0.00102	T	0.40126	0.10220	T	0.014971489	0.00116	0.031073766	0.01645	0.014971489	0.00116	0.031073766	0.01645	-7.145	0.55086	T	.	.	0.082	0.08851	B	.	.	-0.870988	0.00975	0.039	0.4721791077749195	0.03843	0.00775	0.03189	N	AEFI	0.103928	0.20810	N	-1.86899189767816	0.00397	0.01708184	-2.14421496665236	0.00149	0.006554108	0.704444350409036	0.22741	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.56	-5.13	0.02665	-2.747000	0.00865	-20.000000	0.00162	-6.142000	0.00005	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1098:0.214:0.425:0.2512	3.075	0.05866	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2922.98	160	chr11	1244628	.	C	T	2922.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.74;DP=3546;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=50.10;MQRankSum=3.45;QD=9.87;ReadPosRankSum=-1.425e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/0:242,0:242:99:0,120,1800	20	0	1	0
chr11	1244763	1244763	G	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.G7883T:p.R2628L,	.	.	422	1088	12	0	0	12	0.00548446	.	.	2393987	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.039	B	0.016	B	.	.	1.000	N	0.69	N	2.19	T	-1.039	T	0.031	T	0.11	-0.428	2.008	-3.52	-2.557	-2.538	7.567	0.017	0.000668629977859	.	.	0.0003	0.0003	0.0003	0.0002	0.0002	0.0003	0.0011	0.0002	0.0002846	44	154602	rs201153963	7.285e-05	0.0017	7.796e-05	6.769e-05	0.0002	6.142e-05	5.726e-05	6.437e-05	5.935e-05	8.985e-05	4.497e-05	0	0	0	0.0002	7.767e-05	0.0001	5.809e-05	0.0002	0.0064	0.0002	0.0002	0.0002	0.0001	9.879e-05	0.0001	0.0001	0.0002	0	6.582e-05	0.0003	0	0	0	0.0002	0	0	0.271	0.15984	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.355	0.33814	L	2.01	0.21291	T	-0.48	0.15379	N	0.086	0.06322	-1.0386	0.17740	T	0.031	0.13155	T	9	0.056725234	0.06404	T	6.69E-4	0.00383	T	0.017	0.02790	.	.	0.043077524339	0.03247	0.2921260695239488	0.29125	.	.	0.186647862196	0.00171	T	0.022851	0.17544	T	-0.473443	0.00809	T	-0.736317	0.04047	T	0.029850899699308	0.01967	T	0.178782	0.01763	T	0.03685515	0.04613	0.05646688	0.10095	0.03685515	0.04612	0.05646688	0.10094	1.452	0.00086	T	.	.	0.114	0.22717	B	.	.	-1.223093	0.00508	0.011	0.52013723781534171	0.04668	0.00708	0.02999	N	AEFI	0.059239	0.11175	N	-1.70259080793403	0.00833	0.03600691	-1.8455150810957	0.00624	0.0277433	1.37673941154237E-4	0.05486	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.76	-3.52	0.04383	-3.415000	0.00532	-1.264000	0.05871	-5.321000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2069:0.5233:0.2698:0.0	7.567	0.27054	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	158.11	40	chr11	1244763	.	G	T	158.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.050e-01;DP=2077;ExcessHet=0.1072;FS=1.083;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=53.58;MQRankSum=-7.083e+00;QD=0.18;ReadPosRankSum=0.330;SOR=0.836	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485	19	0	2	0
chr11	1244769	1244769	T	C	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.T7889C:p.L2630P,	.	.	421	1094	7	0	0	7	0.00318907	.	.	2293134	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.002	B	0.001	B	.	.	1.000	N	1.01	L	2.05	T	-1.000	T	0.037	T	0.117	-0.237	2.858	-3.77	-0.876	-0.943	3.665	0.007	0.00123789400462	.	0.000599042	0.0006	0.0006	0.0007	0.0002	0	0.0005	0.0011	0.0016	0.0009989	26	26028	rs371763448	0.0006	0.0007	0.0006	0.0007	0.0018	0.0006	0.0006	0.0016	0.0015	0.0004	0.0007	7.663e-05	0.0002	7.493e-05	0.0009	0.0006	0.0007	0.0018	0.0006	0.0007	0.0006	0.0007	0.0016	0.0005	0.0005	0.0011	0.0010	0.0005	0	0.0016	0.0003	0.0004	0	0	0.0006	0.0005	0.0013	0.184	0.21634	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.28	0.10031	N	1.86	0.24285	T	-0.37	0.13226	N	0.056	0.02759	-0.9999	0.29945	T	0.037	0.15856	T	9	0.010769725	0.00238	T	0.001238	0.01658	T	0.007	0.00512	.	.	0.043077524339	0.03247	0.2522542839140574	0.25139	.	.	0.210112020373	0.00816	T	0.020343	0.16033	T	-0.662954	0.00060	T	-0.744079	0.03721	T	0.00124382249977216	0.00012	T	0.169883	0.01597	T	0.03697425	0.04650	0.054840896	0.09508	0.03697425	0.04650	0.054840896	0.09507	1.512	0.00082	T	.	.	0.078	0.06942	B	.	.	0.458368	0.08281	5.027	0.2747382530867607	0.01365	0.00098	0.00638	N	AEFI	0.023710	0.01360	N	-1.27686762743339	0.03956	0.1776559	-1.42652532412239	0.02989	0.1385965	5.23272367242991E-5	0.04171	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.88	-3.77	0.04062	-0.619000	0.05668	-2.035000	0.04311	-1.147000	0.01432	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.21:0.3112:0.0:0.4788	3.665	0.07790	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	6554.11	40	chr11	1244769	.	T	C	6554.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.132e+00;DP=2029;ExcessHet=0.1072;FS=1.101;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=57.76;MQRankSum=-7.704e+00;QD=12.83;ReadPosRankSum=0.442;SOR=0.680	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485	19	0	2	0
chr11	1244777	1244777	T	C	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.T7897C:p.W2633R,	.	.	424	1086	12	0	0	12	0.00549451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	-0.55	N	2.19	T	-1.007	T	0.017	T	0.056	-1.384	0.025	-2.72	-3.051	0.563	1.026	0.042	0.000436924540565	.	.	0.0002	0.0001	0.0002	0	0.0002	0.0003	0	6.058e-05	3.84e-05	1	26028	rs774768277	6.185e-06	0.0016	4.103e-06	8.288e-06	7.224e-06	2.91e-06	2.11e-06	3.11e-06	2.25e-06	0	0	0	0	1.906e-05	0	7.224e-06	0	0	0.0001	0.0065	0.0001	9.605e-05	0.0002	6.64e-05	5.427e-05	0.0001	9.179e-05	2.442e-05	0	6.585e-05	0	0	9.964e-05	0	0.0002	0	0	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	2.0	0.21473	T	-0.82	0.22508	N	0.039	0.01274	-1.0070	0.27850	T	0.017	0.06950	T	9	0.051469415	0.05033	T	4.37E-4	0.00099	T	0.042	0.11227	.	.	0.043077524339	0.03247	0.3131512029563216	0.31228	.	.	0.183986455202	0.00136	T	0.022518	0.17347	T	-0.355514	0.04390	T	-0.748448	0.03546	T	0.0561389739529774	0.06547	T	0.09979	0.00741	T	0.122071005	0.28693	0.10221244	0.24491	0.122071005	0.28693	0.10221244	0.24490	-5.564	0.42462	T	.	.	0.073	0.04681	B	.	.	0.271837	0.06494	2.973	0.31848576285588981	0.01816	0.00106	0.00678	N	AEFI	0.024663	0.01565	N	-1.89331361441333	0.00354	0.01522118	-1.98516358587488	0.00329	0.01452942	6.91002621139919E-4	0.07622	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.36	-2.72	0.05616	-0.553000	0.06104	-9.992000	0.00752	-1.543000	0.00974	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1397:0.3105:0.2348:0.315	1.026	0.01433	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	157.11	40	chr11	1244777	.	T	C	157.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-8.410e-01;DP=1612;ExcessHet=0.1072;FS=1.074;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=53.72;MQRankSum=-7.105e+00;QD=0.19;ReadPosRankSum=-1.037e+00;SOR=0.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485	19	0	2	0
chr11	1245213	1245213	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C8333T:p.T2778I,	.	.	613	907	2	0	0	2	0.00110132	.	.	3415712	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.898	P	0.177	B	.	.	1.000	N	1.78	L	2.31	T	-1.038	T	0.037	T	0.065	-0.487	1.759	-0.087	-0.037	-0.072	5.098	0.023	0.000966906910766	.	.	0.0003	0.0019	0	0.0008	0	0.0002	0	0.0003	0.0002305	6	26028	rs201587515	0.0010	0.0081	0.0010	0.0010	0.0029	0.0010	0.0010	0.0025	0.0023	0.0029	0.0004	0.0008	0.0002	0.0048	0.0002	0.0009	0.0009	0.0004	0.0018	0.0047	0.0019	0.0016	0.0025	0.0016	0.0015	0.0021	0.0020	0.0025	0	0.0004	0.0022	0	0.0022	0	0.0019	0.0005	0.0007	0.008	0.58626	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.155	0.29575	L	2.13	0.19588	T	-0.79	0.21860	N	0.071	0.04426	-1.0382	0.17863	T	0.037	0.15986	T	9	0.023375303	0.00610	T	9.67E-4	0.01003	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.30675158290467086	0.30588	.	.	0.274089097977	0.06681	T	0.022435	0.17299	T	-0.348367	0.04831	T	-0.738181	0.03968	T	0.0122050581929686	0.00196	T	0.266473	0.04381	T	0.07363307	0.16468	0.0682227	0.14220	0.07363307	0.16467	0.0682227	0.14219	-3.095	0.11239	T	.	.	0.122	0.25462	B	.	.	0.137309	0.05316	1.808	0.59959044339541645	0.06348	0.01338	0.04604	N	AEFI	0.033206	0.03894	N	-0.727413001277045	0.15253	0.7671319	-0.975088836857857	0.10346	0.5205271	7.79414524778878E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	0.968	-0.087	0.13014	-0.997000	0.03816	0.217000	0.16029	0.394000	0.20511	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.7768:0.0:0.2232	5.098	0.14079	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	601.11	36	chr11	1245213	.	C	T	601.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.280e-01;DP=844;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=31.78;MQRankSum=-2.198e+00;QD=6.26;ReadPosRankSum=-1.310e+00;SOR=0.765	GT:AD:DP:GQ:PL	0/0:29,0:29:84:0,84,1260	19	0	2	0
chr11	1246806	1246806	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C9926T:p.P3309L,	.	.	423	1094	4	1	0	6	0.00273473	.	.	2806574	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.013	B	0.001	B	.	.	1.000	N	0.46	N	2.15	T	-1.002	T	0.057	T	0.053	0.636	7.419	-0.182	-0.326	-0.376	9.587	0.030	.	.	0.00419329	0.0015	0.0039	0.0003	0.0002	0.0035	0.0015	0.0012	0.0009	0.0009221	24	26028	rs201585967	0.0008	0.0079	0.0008	0.0008	0.0008	0.0008	0.0007	0.0007	0.0007	0.0008	0.0003	0.0006	0.0002	0.0037	0	0.0007	0.0011	0.0005	0.0014	0.0056	0.0014	0.0014	0.0018	0.0012	0.0012	0.0015	0.0014	0.0011	0	0.0009	0.0009	0	0.0017	0	0.0018	0.0015	0.0008	0.324	0.13392	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.39	0.00611	N	1.96	0.22270	T	-0.88	0.23808	N	0.03	0.00717	-1.0021	0.29313	T	0.057	0.23904	T	9	0.004843384	0.00103	T	.	.	.	0.030	0.07022	.	.	0.043077524339	0.03247	0.19572740986424156	0.19489	.	.	0.284503698349	0.08128	T	0.017656	0.14364	T	-0.425325	0.01583	T	-0.848727	0.00976	T	0.00114287191735389	0.00011	T	0.286771	0.05140	T	0.01839654	0.00361	0.03600386	0.02959	0.01839654	0.00361	0.03600386	0.02959	-2.031	0.03300	T	.	.	0.066	0.02285	B	.	.	-0.469930	0.01966	0.170	0.65360487744831952	0.07751	0.00396	0.01986	N	AEFI	0.034210	0.04198	N	-1.25895062939729	0.04183	0.1883026	-1.37859734316826	0.03481	0.1624666	1.03587662820436E-5	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.11	-0.182	0.12635	-3.719000	0.00431	-12.401000	0.00528	-4.513000	0.00027	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.697:0.0:0.303	9.587	0.38691	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	204.98	179	chr11	1246806	.	C	T	204.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.72;DP=2742;ExcessHet=0.0000;FS=24.487;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.42;MQRankSum=-3.804e+00;QD=1.90;ReadPosRankSum=-1.414e+00;SOR=3.170	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:177,0:177:99:.:.:0,120,1800	20	0	1	0
chr11	1246809	1246809	C	G	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C9929G:p.T3310S,	.	.	424	1093	4	1	0	6	0.00273723	.	.	2806576	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.03	B	0.014	B	.	.	1.000	N	1.75	L	2.35	T	-0.975	T	0.043	T	0.118	0.425	6.311	-3.27	-0.415	0.761	7.473	0.010	.	.	0.00419329	0.0013	0.0036	0.0002	0	0.0035	0.0014	0.0013	0.0004	0.0008068	21	26028	rs199754770	0.0003	0.0045	0.0004	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	6.741e-05	0.0004	0	0.0019	0	0.0003	0.0005	0.0001	0.0011	0.0051	0.0010	0.0011	0.0015	0.0009	0.0009	0.0012	0.0011	0.0007	0	0.0007	0.0006	0	0.0018	0	0.0015	0.0015	0.0002	0.669	0.04575	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.81	0.47622	L	2.17	0.19020	T	-0.47	0.15178	N	0.082	0.05799	-0.9753	0.36059	T	0.043	0.18535	T	9	0.008090526	0.00184	T	.	.	.	0.010	0.01040	.	.	0.102598925029	0.09809	0.1060103597288902	0.10531	.	.	0.295612335205	0.09748	T	0.021729	0.16872	T	-0.30847	0.07884	T	-0.680872	0.06931	T	0.00434275812655129	0.00046	T	0.178782	0.01763	T	0.0349988	0.04035	0.03848414	0.03728	0.0349988	0.04034	0.03848414	0.03728	-6.033	0.46555	T	.	.	0.143	0.31431	B	.	.	0.511971	0.08810	5.586	0.4751664859268479	0.03891	0.02219	0.06458	N	AEFI	0.048200	0.08201	N	-1.0469013912272	0.07649	0.3560125	-1.19249931600622	0.06034	0.289263	2.60389917358601E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.11	-3.27	0.04735	0.923000	0.28364	-0.283000	0.10254	0.414000	0.20733	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2887:0.4287:0.2827:0.0	7.473	0.26531	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	192.98	101	chr11	1246809	.	C	G	192.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.31;DP=2667;ExcessHet=0.0000;FS=24.758;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.38;MQRankSum=-3.804e+00;QD=1.72;ReadPosRankSum=-1.305e+00;SOR=3.255	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:177,0:177:99:.:.:0,120,1800	20	0	1	0
chr11	1247226	1247226	A	C	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.A10346C:p.N3449T,	.	.	431	1086	4	1	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.033	B	0.001	B	.	.	1.000	N	-1.845	N	2.31	T	-0.949	T	0.010	T	0.058	0.229	5.236	-6.0	-0.974	-0.458	3.910	0.017	0.00100045576362	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs200158850	0.0029	0.0054	0.0030	0.0029	0.0059	0.0029	0.0028	0.0052	0.0049	0.0059	0.0009	0.0022	0	0.0059	0.0002	0.0031	0.0030	0.0008	0.0011	0.0021	0.0012	0.0010	0.0025	0.0009	0.0009	0.0021	0.0019	0.0025	0	0.0001	0.0006	0	0.0019	0	0.0005	0.0015	0	1.0	0.00964	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	2.12	0.19726	T	-0.13	0.08971	N	0.064	0.03613	-0.9494	0.41075	T	0.010	0.03856	T	9	0.062968284	0.08132	T	0.001	0.01073	T	0.017	0.02790	.	.	0.043077524339	0.03247	0.19404810106661344	0.19322	.	.	0.258136212826	0.04671	T	0.027533	0.20144	T	-0.557311	0.00263	T	-0.855547	0.00892	T	0.0318699842159331	0.02285	T	0.225177	0.02943	T	0.026329836	0.01678	0.03097163	0.01622	0.026329836	0.01677	0.03097163	0.01622	-5.126	0.38180	T	.	.	0.083	0.09433	B	.	.	-0.848568	0.01015	0.042	0.43687165833246011	0.03306	0.00207	0.01180	N	AEFI	0.029542	0.02808	N	-1.76079097507469	0.00648	0.02797238	-1.78573240531941	0.00806	0.03597316	9.23150282117143E-4	0.08013	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	3.12	-6.0	0.02021	-2.483000	0.01057	-2.284000	0.03952	-1.438000	0.01107	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4765:0.3184:0.1172:0.0878	3.910	0.08699	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	103.98	101	chr11	1247226	.	A	C	103.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.56;DP=2498;ExcessHet=0.0000;FS=11.071;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.66;MQRankSum=-5.921e+00;QD=0.94;ReadPosRankSum=-2.993e+00;SOR=2.139	GT:AD:DP:GQ:PL	0/0:163,0:163:99:0,120,1800	20	0	1	0
chr11	1247307	1247307	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C10427T:p.S3476L,	.	.	436	1084	2	0	0	2	0.000921659	.	.	3377654	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.964	D	0.706	P	.	.	1.000	N	0	N	2.24	T	-1.013	T	0.034	T	0.11	-0.986	0.281	-2.33	-2.489	-0.229	3.873	0.016	0.000670523935588	0.0009	0.000998403	0.0021	0.0013	0.0010	0	0.0002	0.0034	0.0011	6.058e-05	0.0006531	17	26028	rs200237369	0.0011	0.0046	0.0011	0.0010	0.0013	0.0010	0.0010	0.0012	0.0012	0.0007	0.0004	0.0003	5.038e-05	0.0002	0.0005	0.0013	0.0007	6.964e-05	0.0014	0.0027	0.0015	0.0013	0.0020	0.0013	0.0012	0.0017	0.0016	0.0015	0.0033	0.0007	0	0	0.0003	0	0.0020	0.0005	0.0002	0.002	0.72154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.06	0.20523	T	-0.5	0.15782	N	0.054	0.02559	-1.0133	0.25880	T	0.034	0.14639	T	9	0.008140892	0.00185	T	6.71E-4	0.00383	T	0.016	0.02506	.	.	0.043077524339	0.03247	0.3778921272455703	0.37704	.	.	0.291973948479	0.09209	T	0.019382	0.15452	T	-0.608035	0.00130	T	-0.691729	0.06289	T	0.0188476063997962	0.00595	T	0.453055	0.12870	T	0.04009491	0.05660	0.055800963	0.09854	0.04009491	0.05660	0.055800963	0.09853	-9.23	0.69165	D	.	.	0.126	0.26794	B	.	.	0.558156	0.09265	6.049	0.60519443585822308	0.06483	0.00826	0.03330	N	AEFI	0.040760	0.06108	N	-1.51925413910876	0.01723	0.07542334	-1.69741881414829	0.01149	0.051674	7.3503208821387E-4	0.07723	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	1.16	-2.33	0.06340	-0.639000	0.05543	-6.979000	0.01259	-1.530000	0.00994	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3952:0.3367:0.268	3.873	0.08548	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1486.98	122	chr11	1247307	.	C	T	1486.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.19;DP=2695;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.32;MQRankSum=7.09;QD=7.40;ReadPosRankSum=-3.840e-01;SOR=0.654	GT:AD:DP:GQ:PL	0/0:133,0:133:99:0,120,1800	20	0	1	0
chr11	1247967	1247967	T	A	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.T11087A:p.L3696Q,	.	.	418	1095	8	1	0	10	0.00454545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.008	B	0.001	B	.	.	1.000	N	1.04	L	2.44	T	-1.026	T	0.026	T	0.149	-0.160	3.219	-3.96	-2.656	-1.501	3.623	0.010	0.00130567419808	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs200634059	0.0002	0.0014	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	2.992e-05	2.239e-05	0.0002	0	0.0016	0	0.0001	0.0002	0.0001	0.0003	0.0022	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	0.0001	0	0.0001	0.0006	0	0.0012	0	0.0004	0	0	0.677	0.04469	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.7	0.43825	L	2.27	0.17431	T	-0.77	0.21429	N	0.153	0.15749	-1.0257	0.21853	T	0.026	0.10954	T	9	0.063252956	0.08211	T	0.001306	0.01809	T	0.010	0.01040	.	.	0.043077524339	0.03247	0.4561208433612859	0.45530	.	.	0.202009737492	0.00517	T	0.017989	0.14581	T	-0.347562	0.04882	T	-0.737025	0.04017	T	0.0346272595397258	0.02744	T	0.470553	0.13922	T	0.08773653	0.20442	0.07224727	0.15564	0.08773653	0.20441	0.07224727	0.15564	-5.376	0.40688	T	.	.	0.085	0.10400	B	.	.	-0.215227	0.03013	0.458	0.55347902546256733	0.05324	0.00552	0.02527	N	AEFI	0.049393	0.08528	N	-1.75707923278808	0.00659	0.02842352	-1.90214830955848	0.00485	0.02147955	8.7084895263696E-4	0.07931	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.98	-3.96	0.03833	-1.606000	0.02175	-1.921000	0.04493	-1.278000	0.01271	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1713:0.2842:0.0:0.5444	3.623	0.07646	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	535.98	75	chr11	1247967	.	T	A	535.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.560e-01;DP=1499;ExcessHet=0.0000;FS=2.231;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.32;MQRankSum=-5.118e+00;QD=2.88;ReadPosRankSum=1.57;SOR=0.715	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:55,0:55:99:.:.:0,120,1800	20	0	1	0
chr11	1247975	1247975	A	G	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.A11095G:p.T3699A,	.	.	422	1091	8	1	0	10	0.00456204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.01	B	0.004	B	.	.	1.000	N	0.805	L	2.05	T	-1.024	T	0.027	T	0.079	-0.727	0.886	-5.64	-4.502	-9.030	1.908	0.016	0.00206599972394	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs201830673	0.0002	0.0015	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	2.992e-05	2.24e-05	0.0002	0	0.0016	0.0002	0.0001	0.0002	9.315e-05	0.0003	0.0021	0.0003	0.0004	0.0004	0.0002	0.0002	0.0002	0.0002	0.0001	0	0.0001	0.0003	0	0.0012	0	0.0003	0	0.0004	0.076	0.34269	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.835	0.21042	L	1.97	0.22067	T	-0.05	0.07736	N	0.037	0.01135	-1.0235	0.22573	T	0.027	0.11397	T	9	0.028978825	0.01026	T	0.002066	0.03775	T	0.016	0.02506	.	.	0.043077524339	0.03247	0.3564674410192791	0.35560	.	.	0.209255039692	0.00780	T	0.02129	0.16605	T	-0.356657	0.04322	T	-0.750089	0.03482	T	0.0880673557329466	0.10986	T	0.429357	0.11628	T	0.027399968	0.01926	0.03371914	0.02313	0.027399968	0.01925	0.03371914	0.02313	-5.817	0.44722	T	.	.	0.072	0.04159	B	.	.	-0.596247	0.01582	0.106	0.21294764149883202	0.00805	0.00237	0.01320	N	AEFI	0.043690	0.06936	N	-2.65331805414328	0.00007	0.0003049135	-2.77925892932195	0.00005	0.0002279892	0.949272003443495	0.27839	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.82	-5.64	0.02269	-1.644000	0.02104	-4.482000	0.02134	-0.998000	0.01821	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2353:0.2501:0.3788:0.1357	1.908	0.03082	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	497.98	75	chr11	1247975	.	A	G	497.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.950e-01;DP=1485;ExcessHet=0.0000;FS=3.343;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.89;MQRankSum=-5.336e+00;QD=2.74;ReadPosRankSum=3.98;SOR=0.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:55,0:55:99:.:.:0,120,1800	20	0	1	0
chr11	1247990	1247990	-	CA	exonic	MUC5B	.	frameshift insertion	MUC5B:NM_002458:exon31:c.11110_11111insCA:p.E3704Afs*29,	.	.	421	1092	8	1	0	10	0.00455789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1280607510	0.0002	0.0015	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	2.992e-05	2.239e-05	0.0002	0	0.0016	0	0.0001	0.0002	0.0001	0.0003	0.0022	0.0003	0.0004	0.0004	0.0003	0.0002	0.0003	0.0003	0.0001	0	0.0001	0.0003	0	0.0011	0	0.0004	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	497.08	75	chr11	1247990	.	G	GCA	497.08	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.030e+00;DP=1616;ExcessHet=0.0000;FS=3.401;InbreedingCoeff=-0.0316;MLEAC=1;MLEAF=0.024;MQ=52.95;MQRankSum=-5.078e+00;QD=2.86;ReadPosRankSum=4.29;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:55,0:55:99:.:.:0,120,1800	20	0	1	0
chr11	1247992	1247993	GT	-	exonic	MUC5B	.	frameshift deletion	MUC5B:NM_002458:exon31:c.11112_11113del:p.E3704Dfs*233,	.	.	424	1089	8	1	0	10	0.00457038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1250894594	0.0002	0.0018	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	2.999e-05	2.241e-05	0.0002	0	0.0015	0	0.0001	0.0003	0.0001	0.0004	0.0023	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0003	0.0001	0	0.0001	0.0003	0	0.0012	0	0.0005	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	500.22	75	chr11	1247991	.	AGT	A	500.22	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.033e+00;DP=1614;ExcessHet=0.0000;FS=3.385;InbreedingCoeff=-0.0356;MLEAC=1;MLEAF=0.024;MQ=52.75;MQRankSum=-4.991e+00;QD=2.89;ReadPosRankSum=4.17;SOR=1.018	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:55,0:55:99:.:.:0,120,1800	20	0	1	0
chr11	1248015	1248015	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C11135T:p.P3712L,	.	.	425	1088	8	1	0	10	0.00457457	.	.	2806586	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.056	B	0.007	B	.	.	1.000	N	1.245	L	2.29	T	-1.022	T	0.040	T	0.092	0.559	7.020	1.16	0.010	.	7.448	0.024	0.00163941383286	.	.	0.0001	0.0001	8.655e-05	0.0009	0	3.045e-05	0	0	6.5e-06	1	154602	rs768796024	0.0004	0.0058	0.0004	0.0003	0.0009	0.0003	0.0003	0.0003	0.0003	9.036e-05	6.747e-05	0.0002	0.0005	0.0025	0.0009	0.0003	0.0003	0.0003	0.0006	0.0031	0.0007	0.0006	0.0008	0.0005	0.0005	0.0006	0.0006	0.0003	0	0.0003	0.0003	0.0006	0.0016	0	0.0008	0	0.0006	0.483	0.08164	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.415	0.35607	L	2.16	0.19166	T	-1.73	0.41046	N	0.059	0.03069	-1.0216	0.23195	T	0.040	0.17149	T	9	0.025567085	0.00747	T	0.001639	0.02676	T	0.024	0.04979	.	.	0.043077524339	0.03247	0.41931647305188957	0.41847	.	.	0.244248837233	0.03186	T	0.021356	0.16647	T	-0.64035	0.00083	T	-0.766709	0.02878	T	0.0179423793737533	0.00520	T	0.351565	0.07865	T	0.018587694	0.00381	0.036532283	0.03119	0.018587694	0.00381	0.036532283	0.03119	-6.192	0.47858	T	.	.	0.137	0.29860	B	.	.	0.153092	0.05450	1.920	0.81010241590012655	0.13476	0.00591	0.02650	N	AEFI	0.032740	0.03755	N	-0.961840334933017	0.09428	0.4461714	-1.04850934845842	0.08738	0.4311007	1.3978619616351E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.27	1.16	0.19936	-4.892000	0.00202	-2.513000	0.03663	-0.385000	0.05372	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6728:0.0:0.3272	7.448	0.26395	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05	623.8	75	chr11	1248015	.	C	T	623.8	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-7.600e-01;DP=1574;ExcessHet=0.1072;FS=2.366;InbreedingCoeff=-0.0633;MLEAC=2;MLEAF=0.050;MQ=50.81;MQRankSum=-4.600e+00;QD=2.27;ReadPosRankSum=1.04;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:55,0:55:99:.:.:0,120,1800	18	0	2	1
chr11	1248063	1248063	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C11183T:p.T3728I,	.	.	428	1088	5	1	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.241	B	0.017	B	.	.	1.000	N	2.005	M	2.3	T	-1.012	T	0.042	T	0.057	-0.092	3.551	-0.879	-0.265	-0.039	2.662	0.022	0.00122992940009	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1470624633	9.68e-05	0.0003	0.0001	9.108e-05	6.962e-05	8.339e-05	7.877e-05	4.911e-05	4.494e-05	2.992e-05	2.238e-05	0	0	0.0011	0	6.129e-05	0.0001	6.962e-05	0.0002	0.0008	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	0	0.0002	0	0	0.0003	0	0.0002	0	0	0.081	0.33418	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.965	0.53209	M	2.08	0.20255	T	-1.16	0.29727	N	0.05	0.02179	-1.0119	0.26322	T	0.042	0.17869	T	9	0.10078734	0.18377	T	0.00123	0.01633	T	0.022	0.04323	.	.	0.043077524339	0.03247	0.3793512509731646	0.37850	.	.	0.32149374485	0.13649	T	0.036303	0.24050	T	-0.479231	0.00747	T	-0.743391	0.03749	T	0.0369545324081952	0.03147	T	0.571443	0.20372	T	0.03850974	0.05144	0.044887517	0.05918	0.03850974	0.05143	0.044887517	0.05917	-5.854	0.45042	T	.	.	0.202	0.42678	B	.	.	1.255567	0.16531	12.60	0.91848487515983446	0.21161	0.00551	0.02524	N	AEFI	0.040960	0.06164	N	-0.900183194118483	0.10838	0.5199271	-1.08075534224448	0.08079	0.3957022	8.89922730734236E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.31	-0.879	0.10076	-0.547000	0.06145	-1.619000	0.05048	0.327000	0.19478	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.4686:0.3109:0.2205	2.662	0.04722	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	150.98	75	chr11	1248063	.	C	T	150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.600e-02;DP=1304;ExcessHet=0.0000;FS=23.390;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=45.17;MQRankSum=-2.170e+00;QD=1.41;ReadPosRankSum=-2.570e+00;SOR=4.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:55,0:55:99:.:.:0,120,1800	20	0	1	0
chr11	1248327	1248327	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C11447T:p.T3816M,	.	.	434	1079	9	0	0	9	0.00415321	.	.	2227925	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.987	D	0.64	P	.	.	1.000	N	1.975	M	2.27	T	-1.059	T	0.054	T	0.096	0.259	5.398	-5.39	-0.895	-0.690	2.469	0.066	0.00485645972326	.	0.00139776	0.0016	0.0002	0.0010	0.0015	0.0029	0.0018	0.0012	0.0016	0.0001229	19	154602	rs201948297	0.0028	0.0030	0.0029	0.0027	0.0066	0.0027	0.0027	0.0050	0.0044	0.0005	0.0017	0.0027	0.0007	0.0016	0.0066	0.0031	0.0025	0.0018	0.0016	0.0017	0.0015	0.0017	0.0023	0.0014	0.0014	0.0020	0.0019	0.0004	0	0.0022	0.0017	0.0004	0.0018	0.0034	0.0023	0.0024	0.0011	0.197	0.20607	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.845	0.48678	L	2.09	0.20122	T	-0.5	0.15782	N	0.028	0.00618	-1.0589	0.12032	T	0.054	0.22959	T	9	0.008440405	0.00191	T	0.004856	0.12161	T	0.066	0.19193	.	.	0.043077524339	0.03247	0.27986162754402993	0.27899	.	.	0.191385239363	0.00250	T	0.035321	0.23671	T	-0.6685	0.00056	T	-0.739815	0.03898	T	0.0207374325317446	0.00773	T	0.368563	0.08641	T	0.013436387	0.00059	0.026994731	0.00822	0.013436387	0.00059	0.026994731	0.00822	-8.743	0.66027	D	.	.	0.115	0.23183	B	.	.	-0.150960	0.03351	0.592	0.49371029527055171	0.04199	0.02152	0.06328	N	AEFI	0.052130	0.09276	N	-0.686384343782334	0.16408	0.8357438	-1.00506885666809	0.09673	0.482642	3.11286626288464E-4	0.06498	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.01	-5.39	0.02457	-3.773000	0.00416	-7.730000	0.01097	-3.191000	0.00112	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2768:0.3513:0.273:0.0989	2.469	0.04281	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	380.98	75	chr11	1248327	.	C	T	380.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.012e+00;DP=1461;ExcessHet=0.0000;FS=24.428;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=41.32;MQRankSum=-3.745e+00;QD=3.63;ReadPosRankSum=3.95;SOR=1.761	GT:AD:DP:GQ:PL	0/0:76,0:76:99:0,120,1800	20	0	1	0
chr11	1248372	1248372	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C11492T:p.A3831V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.207	B	0.111	B	.	.	1.000	N	1.295	L	2.36	T	-1.010	T	0.042	T	0.079	0.686	7.667	0.616	0.237	-1.758	7.689	0.006	0.00121889163949	.	.	0.0006	0.0001	0.0034	0.0003	0.0006	0.0003	0	0.0002	6.5e-06	1	154602	rs199586219	0.0003	0.0007	0.0003	0.0003	0.0019	0.0003	0.0003	0.0014	0.0012	0.0003	0.0017	0.0002	0.0002	0.0004	0.0019	0.0002	0.0004	0.0002	0.0004	0.0007	0.0005	0.0004	0.0006	0.0003	0.0003	0.0004	0.0003	0.0005	0	0.0006	0.0006	0.0002	9.588e-05	0.0034	0.0004	0	0.0004	0.51	0.07497	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.17	0.19020	T	-0.17	0.09627	N	0.014	0.00160	-1.0097	0.27012	T	0.042	0.17869	T	9	0.011316478	0.00248	T	0.001219	0.01608	T	0.006	0.00375	.	.	0.043077524339	0.03247	0.1818541254700433	0.18104	.	.	0.174305215478	0.00052	T	0.036198	0.24012	T	-0.354178	0.04470	T	-0.746529	0.03623	T	0.00457457471139263	0.00049	T	0.291471	0.05330	T	0.018547935	0.00377	0.036938038	0.03242	0.018547935	0.00376	0.036938038	0.03241	-0.572	0.00629	T	.	.	0.103	0.18497	B	.	.	-0.035196	0.04045	0.935	0.67230953212728517	0.08293	0.02297	0.06607	N	AEFI	0.045591	0.07473	N	-0.99025520339052	0.08811	0.4145676	-1.13315455608529	0.07074	0.342763	2.03380709558814E-4	0.05948	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.6	0.616	0.16789	0.517000	0.22539	0.042000	0.13882	-0.652000	0.04383	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7342:0.2658:0.0	7.689	0.27725	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	62.98	75	chr11	1248372	.	C	T	62.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.118;DP=1435;ExcessHet=0.0000;FS=44.785;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=46.91;MQRankSum=-2.890e+00;QD=0.47;ReadPosRankSum=-1.350e-01;SOR=5.281	GT:AD:DP:GQ:PL	0/0:76,0:76:99:0,120,1800	20	0	1	0
chr11	1248480	1248480	C	G	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C11600G:p.T3867S,	.	.	413	1104	4	1	0	6	0.00271003	.	.	2392311	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.88	P	0.636	P	.	.	1.000	N	2.36	M	2.32	T	-1.050	T	0.074	T	0.078	-0.506	1.681	-3.86	-1.723	-0.262	5.418	0.042	0.000647662265824	.	.	9.993e-05	0.0005	0	0	0	0.0001	0	0	3.84e-05	1	26028	rs760255789	0.0004	0.0053	0.0005	0.0004	0.0004	0.0004	0.0004	0.0004	0.0004	0.0003	0.0001	0.0002	0	0.0021	0	0.0004	0.0005	0.0002	0.0009	0.0041	0.0011	0.0007	0.0014	0.0008	0.0008	0.0012	0.0011	0.0004	0	0.0001	0.0012	0	0.0020	0	0.0014	0.0010	0	0.081	0.33418	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.04	0.26193	L	2.14	0.19450	T	-0.48	0.15379	N	0.212	0.23632	-1.0498	0.14453	T	0.074	0.30023	T	9	0.09746829	0.17557	T	6.48E-4	0.00350	T	0.042	0.11227	.	.	0.043077524339	0.03247	0.1723493437124335	0.17154	.	.	0.269512474537	0.06077	T	0.020581	0.16179	T	-0.339343	0.05434	T	-0.725219	0.04548	T	0.0284981456361258	0.01762	T	0.215678	0.02687	T	0.0470713	0.07985	0.04731589	0.06787	0.0470713	0.07984	0.04731589	0.06786	-8.368	0.63552	D	.	.	0.141	0.31023	B	.	.	-0.178734	0.03201	0.530	0.66509984805745181	0.08080	0.00607	0.02700	N	AEFI	0.028204	0.02443	N	-0.718821208038785	0.15493	0.7812755	-1.05486022119159	0.08606	0.4239504	0.00247832193061608	0.09461	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.93	-3.86	0.03951	-0.124000	0.10571	-2.521000	0.03653	0.292000	0.18798	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4533:0.2628:0.2839	5.418	0.15683	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	1037.11	168	chr11	1248480	.	C	G	1037.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.74;DP=3265;ExcessHet=0.1072;FS=77.432;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=52.17;MQRankSum=-6.102e+00;QD=3.39;ReadPosRankSum=-3.064e+00;SOR=4.653	GT:AD:DP:GQ:PL	0/0:201,0:201:99:0,120,1800	19	0	2	0
chr11	1248492	1248492	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C11612T:p.T3871M,	.	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.273	B	0.011	B	.	.	1.000	N	2.095	M	2.45	T	-1.012	T	0.032	T	0.04	-0.889	0.461	-2.62	-0.651	-0.311	2.038	0.023	0.000687575980038	.	.	5.828e-05	0	0	0.0001	0	7.551e-05	0	6.06e-05	6.5e-06	1	154602	rs751947149	0.0005	0.0063	0.0005	0.0005	0.0005	0.0004	0.0004	0.0004	0.0004	0.0001	8.987e-05	0.0002	5.038e-05	0.0024	0	0.0005	0.0005	0.0002	0.0014	0.0037	0.0015	0.0012	0.0019	0.0012	0.0012	0.0017	0.0016	0.0003	0	0.0004	0.0018	0	0.0045	0	0.0019	0.0034	0.0006	0.022	0.48642	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.845	0.48678	L	2.26	0.17596	T	-0.87	0.23590	N	0.052	0.02366	-1.0122	0.26228	T	0.032	0.13898	T	9	0.05734238	0.06572	T	6.88E-4	0.00418	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.25397836234472576	0.25311	.	.	0.239563554525	0.02751	T	0.025771	0.19207	T	-0.394626	0.02510	T	-0.80463	0.01789	T	0.0286003611331885	0.01777	T	0.434357	0.11884	T	0.01591583	0.00165	0.031194555	0.01675	0.01591583	0.00165	0.031194555	0.01675	-9.699	0.72090	D	.	.	0.129	0.27553	B	.	.	0.270769	0.06484	2.961	0.79329188609127488	0.12692	0.02992	0.07850	N	AEFI	0.038089	0.05339	N	-1.59003640706088	0.01315	0.05726417	-1.74347895408907	0.00958	0.04290252	4.82336702138826E-5	0.03989	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.1	-2.62	0.05793	-0.815000	0.04588	-0.324000	0.09941	-1.771000	0.00664	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1337:0.449:0.1321:0.2853	2.038	0.03328	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	248.11	168	chr11	1248492	.	C	T	248.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.50;DP=3290;ExcessHet=0.1072;FS=30.620;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=51.69;MQRankSum=-4.652e+00;QD=0.76;ReadPosRankSum=-2.075e+00;SOR=2.944	GT:AD:DP:GQ:PL	0/0:201,0:201:99:0,120,1800	19	0	2	0
chr11	1248533	1248533	C	A	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C11653A:p.R3885S,	.	.	413	1093	16	0	0	16	0.00726612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.001	B	0.002	B	.	.	1.000	N	0.97	L	1.83	T	-1.008	T	0.048	T	0.057	0.249	5.344	-0.905	-0.099	0.963	4.814	0.028	.	.	0.00978435	0.0067	0.0065	0.0016	0	0.0103	0.0088	0.0079	0.0040	0.0003169	49	154602	rs200531133	0.0004	0.0049	0.0005	0.0004	0.0044	0.0004	0.0004	0.0038	0.0036	0.0044	0.0002	7.75e-05	0	0.0035	0	0.0002	0.0005	0.0001	0.0019	0.0076	0.0019	0.0019	0.0041	0.0017	0.0017	0.0036	0.0034	0.0041	0	0.0007	0.0021	0	0.0024	0	0.0010	0.0019	0.0006	0.145	0.25154	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.665	0.16292	N	1.65	0.27650	T	-0.29	0.11728	N	0.038	0.01203	-1.0076	0.27665	T	0.048	0.20513	T	9	0.004948646	0.00106	T	.	.	.	0.028	0.06331	.	.	0.043077524339	0.03247	0.1732607520863186	0.17246	.	.	0.184156805277	0.00138	T	0.019783	0.15694	T	-0.710598	0.00032	T	-0.791721	0.02118	T	0.0021594767596445	0.00022	T	0.178282	0.01754	T	0.07202977	0.15990	0.055887517	0.09886	0.07202977	0.15990	0.055887517	0.09885	-3.01	0.10289	T	.	.	0.144	0.31733	B	.	.	-2.391566	0.00041	0.001	0.55390806864209352	0.05333	0.01295	0.04505	N	AEFI	0.049243	0.08487	N	-1.10216974858904	0.06605	0.3045007	-1.19833447619775	0.05938	0.2843696	8.94112762282216E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.76	-0.905	0.09992	-3.514000	0.00496	-13.430000	0.00459	-5.602000	0.00009	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1675:0.5686:0.0:0.2639	4.814	0.12722	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1680.11	168	chr11	1248533	.	C	A	1680.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-8.560e-01;DP=3379;ExcessHet=0.1072;FS=1.588;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=52.33;MQRankSum=-4.313e+00;QD=4.10;ReadPosRankSum=-3.500e-02;SOR=0.855	GT:AD:DP:GQ:PL	0/0:201,0:201:99:0,120,1800	19	0	2	0
chr11	1248782	1248782	G	C	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.G11902C:p.G3968R,	.	.	445	1067	9	1	0	11	0.00512821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.005	B	0.003	B	.	.	1.000	N	1.955	M	2.01	T	-1.007	T	0.060	T	0.102	0.377	6.047	0.066	-0.244	-0.402	7.327	0.016	0.00115913261621	.	0.000199681	0.0015	0	0	0	0	0.0035	0	0	3.84e-05	1	26028	rs564550102	0.0004	0.0004	0.0004	0.0005	0.0068	0.0004	0.0004	0.0051	0.0045	9.498e-05	0.0002	0.0075	0	2.034e-05	0.0068	0.0003	0.0008	0.0004	0.0005	0.0005	0.0005	0.0005	0.0005	0.0004	0.0003	0.0004	0.0004	2.464e-05	0	0.0002	0.0067	0	0	0.0034	0.0005	0.0014	0.0004	0.041	0.41915	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.095	0.58118	M	1.83	0.24841	T	-1.56	0.37759	N	0.07	0.04307	-1.0072	0.27789	T	0.060	0.24945	T	9	0.005426973	0.00120	T	0.001159	0.01459	T	0.016	0.02506	.	.	0.043077524339	0.03247	0.4187595586471589	0.41791	.	.	0.218168482184	0.01206	T	0.021063	0.16467	T	-0.554857	0.00273	T	-0.678413	0.07081	T	0.0127803029941339	0.00217	T	0.644036	0.25562	T	0.064028956	0.13544	0.09006886	0.21100	0.064028956	0.13543	0.09006886	0.21099	-7.739	0.59278	D	.	.	0.153	0.33823	B	.	.	0.476649	0.08461	5.220	0.61862330430538026	0.06816	0.02256	0.06529	N	AEFI	0.053372	0.09610	N	-0.956521319148289	0.09547	0.4523114	-1.07466537576786	0.08201	0.4022063	9.36312119222132E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.25	0.066	0.13671	-0.208000	0.09375	-9.366000	0.00831	-0.329000	0.05792	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4409:0.0:0.559:0.0	7.327	0.25733	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1247.98	128	chr11	1248782	.	G	C	1247.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.900e-01;DP=1430;ExcessHet=0.0000;FS=2.306;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.06;MQRankSum=-2.499e+00;QD=9.75;ReadPosRankSum=0.639;SOR=0.492	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1435	20	0	1	0
chr11	1248903	1248903	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C12023T:p.T4008M,	.	.	632	886	3	1	0	5	0.00281373	.	.	2438393	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.458	P	0.017	B	.	.	1.000	N	1.31	L	2.26	T	-1.052	T	0.031	T	0.069	-0.371	2.252	-1.12	-0.428	-4.610	5.067	0.017	0.00321089615043	.	.	0.0007	0.0027	0.0027	0	0	0.0007	0	0.0002	6.5e-06	1	154602	rs767648185	0.0005	0.0005	0.0005	0.0005	0.0015	0.0005	0.0005	0.0007	0.0007	6.27e-05	0.0010	0	0	5.982e-05	0.0015	0.0006	0.0004	0.0002	0.0004	0.0005	0.0004	0.0004	0.0014	0.0003	0.0003	0.0009	0.0008	0.0001	0.0088	0.0014	0	0	0	0	0.0004	0.0015	0	0.054	0.38633	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.1	0.28011	L	2.08	0.20255	T	-0.93	0.24898	N	0.042	0.01498	-1.0524	0.13736	T	0.031	0.13461	T	9	0.010128796	0.00227	T	0.003211	0.07057	T	0.017	0.02790	.	.	0.043077524339	0.03247	0.38704277308092166	0.38619	.	.	0.217673510313	0.01180	T	0.032386	0.22461	T	-0.663544	0.00060	T	-0.732388	0.04221	T	0.000755852060251669	0.00007	T	0.323368	0.06588	T	0.0146855945	0.00103	0.03652635	0.03116	0.0146855945	0.00103	0.03652635	0.03116	-8.746	0.66047	D	.	.	0.126	0.26576	B	.	.	0.898715	0.12724	9.246	0.74712460906929012	0.10798	0.00223	0.01258	N	AEFI	0.032051	0.03545	N	-1.37164144024145	0.02907	0.1290686	-1.51768257756784	0.02208	0.1012032	9.35793791966632E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.47	-1.12	0.09306	0.464000	0.21700	-6.072000	0.01505	-0.685000	0.04181	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4421:0.3355:0.2224	5.067	0.13923	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	1346.11	41	chr11	1248903	.	C	T	1346.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=6.41;DP=981;ExcessHet=0.1072;FS=11.038;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=31.14;MQRankSum=-5.750e-01;QD=14.02;ReadPosRankSum=0.677;SOR=1.753	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1435	19	0	2	0
chr11	1249171	1249171	G	0	exonic	MUC5B	.	.	.	.	.	465	977	67	1	12	81	0.0341078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	1165.22	39	chr11	1249171	.	G	A,*	1165.22	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=2.22;DP=1559;ExcessHet=1.1607;FS=9.281;InbreedingCoeff=-0.1351;MLEAC=3,2;MLEAF=0.071,0.048;MQ=52.13;MQRankSum=-6.057e+00;QD=1.63;ReadPosRankSum=1.43;SOR=1.177	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0,0:38:99:.:.:0,99,1435,99,1435,1435	16	0	3	0
chr11	1249257	1249257	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C12377T:p.T4126M,	.	.	455	1064	2	1	0	4	0.00187617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.994	D	0.725	P	.	.	1.000	N	0	N	2.07	T	-1.065	T	0.039	T	0.098	-0.092	3.548	-0.396	-0.364	0.516	0.823	0.100	.	.	.	0.0082	0.0024	0.0014	0	0.0275	0.0106	0.0150	0.0037	0.0003842	10	26028	rs2860626	0.0004	0.0016	0.0004	0.0004	0.0022	0.0004	0.0004	0.0011	0.0008	5.993e-05	0.0007	7.717e-05	2.52e-05	0.0003	0.0022	0.0004	0.0006	0.0003	0.0007	0.0036	0.0008	0.0007	0.0011	0.0006	0.0006	0.0009	0.0008	0.0003	0	0.0011	0	0	0.0002	0	0.0011	0.0005	0.0004	0.003	0.68238	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.805	0.20218	L	1.89	0.23688	T	-1.17	0.29933	N	0.084	0.06059	-1.0650	0.10549	T	0.039	0.16677	T	9	0.0069672763	0.00158	T	.	.	.	0.100	0.28662	.	.	0.043077524339	0.03247	0.6008829904671666	0.60019	.	.	0.307439804077	0.11521	T	0.026688	0.19696	T	-0.313862	0.07412	T	-0.688618	0.06469	T	0.0168555898646078	0.00438	T	0.340966	0.07383	T	0.034339268	0.03834	0.07309953	0.15845	0.034339268	0.03834	0.07309953	0.15845	-7.854	0.60071	D	.	.	0.169	0.37178	B	.	.	1.716105	0.21849	15.38	0.73239970787822828	0.10256	0.01472	0.04908	N	AEFI	0.050227	0.08758	N	-0.884375950991772	0.11213	0.5399419	-1.06848443270914	0.08326	0.4089015	7.81480232488486E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.99	-0.396	0.11808	-0.394000	0.07357	-1.031000	0.06547	-0.548000	0.04911	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.1879:0.3966:0.1838:0.2316	0.823	0.01044	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	42.98	39	chr11	1249257	.	C	T	42.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.49;DP=1372;ExcessHet=0.0000;FS=14.362;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=42.63;MQRankSum=-4.740e-01;QD=0.60;ReadPosRankSum=-5.610e-01;SOR=3.881	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1435	20	0	1	0
chr11	1250412	1250412	G	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.G13532T:p.R4511I,	.	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.052	B	0.005	B	.	.	1.000	N	1.04	L	2.46	T	-0.999	T	0.028	T	0.139	-0.290	2.614	-4.24	-1.091	-0.882	7.805	0.012	0.00107642699956	.	.	.	.	.	.	.	.	.	.	.	.	.	rs751101852	0.0005	0.0077	0.0006	0.0005	0.0005	0.0005	0.0005	0.0005	0.0005	9.016e-05	4.489e-05	0.0003	0	0.0025	0.0005	0.0005	0.0005	0.0002	0.0002	0.0018	0.0002	0.0002	0.0002	0.0001	0.0001	9.31e-05	7.203e-05	9.85e-05	0	0	0.0003	0	0.0010	0	0.0002	0	0.0002	0.009	0.57480	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.27	0.17431	T	-0.97	0.25770	N	0.047	0.01911	-0.9993	0.30115	T	0.028	0.11882	T	9	0.05417359	0.05726	T	0.001076	0.01239	T	0.012	0.01476	.	.	0.043077524339	0.03247	0.27429200151051725	0.27342	.	.	0.253197193146	0.04111	T	0.018998	0.15217	T	-0.338961	0.05460	T	-0.72467	0.04573	T	0.0964776352379499	0.11965	T	0.439156	0.12095	T	0.04334099	0.06738	0.080607116	0.18247	0.04334099	0.06738	0.080607116	0.18247	-4.216	0.26983	T	.	.	0.09	0.12607	B	.	.	-0.564133	0.01673	0.119	0.58495695705046724	0.06006	0.00156	0.00937	N	AEFI	.	.	.	-1.78653674221469	0.00579	0.02493796	-1.92881921093145	0.00429	0.01897644	1.93811161106962E-4	0.05898	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	2.12	-4.24	0.03519	-2.162000	0.01363	-0.593000	0.08311	-1.429000	0.01117	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3724:0.4868:0.1408	7.805	0.28361	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	207.11	182	chr11	1250412	.	G	T	207.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.06;DP=3469;ExcessHet=0.1072;FS=40.245;InbreedingCoeff=-0.0498;MLEAC=2;MLEAF=0.048;MQ=53.48;MQRankSum=-6.611e+00;QD=0.63;ReadPosRankSum=-3.339e+00;SOR=3.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:198,0:198:99:.:.:0,120,1800	19	0	2	0
chr11	1254776	1254776	G	A	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon35:c.G15560A:p.R5187H,	.	.	407	1088	26	1	0	28	0.0127042	.	.	496969	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	0.469	P	0.086	B	.	.	1.000	N	1.67	L	0.23	T	-0.943	T	0.128	T	0.172	0.833	8.358	0.676	0.325	-1.842	3.261	0.088	.	0.0012	0.00319489	0.0028	0.0001	0.0009	0	0	0.0026	0.0034	0.0087	0.0025938	401	154602	rs201530874	0.0020	0.0020	0.0016	0.0023	0.0139	0.0019	0.0019	0.0114	0.0105	0.0004	0.0015	0.0172	0	0.0001	0.0139	0.0012	0.0033	0.0085	0.0021	0.0021	0.0020	0.0022	0.0102	0.0019	0.0018	0.0079	0.0071	0.0002	0	0.0031	0.0190	0.0002	0	0.0238	0.0020	0.0028	0.0102	0.549	0.06606	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.955	0.23872	L	0.23	0.59717	T	-0.07	0.08033	N	0.26	0.29429	-0.9434	0.42073	T	0.128	0.43605	T	9	0.0056170225	0.00125	T	.	.	.	0.088	0.25558	.	.	0.229543500084	0.22568	0.49850178030556436	0.49771	.	.	0.201641201973	0.00506	T	0.013289	0.11520	T	-0.532738	0.00370	T	-0.532045	0.19083	T	0.0109296992694224	0.00157	T	0.49905	0.15565	T	0.03054761	0.02737	0.03566126	0.02861	0.03054761	0.02736	0.03566126	0.02861	-3.371	0.14669	T	.	.	0.076	0.06114	B	.	.	0.904501	0.12785	9.303	0.59249882375432639	0.06180	0.06154	0.12135	N	AEFBCI	0.064271	0.12470	N	-0.774044062322131	0.13989	0.6932659	-0.907556955658707	0.11916	0.6099491	8.25008338032791E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.98	0.676	0.17125	-1.365000	0.02694	-2.084000	0.04237	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.3387:0.0:0.4753:0.186	3.261	0.06444	946	0.12043	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2065.98	35	chr11	1254776	.	G	A	2065.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.35;DP=927;ExcessHet=0.0000;FS=5.011;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.54;ReadPosRankSum=2.28;SOR=1.046	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1343	20	0	1	0
chr11	1598173	1598173	-	GAGCCATAGCCCCCACAGCCGGAGCCACAGCCCCCACAGCCG	exonic	KRTAP5-2	.	nonframeshift insertion	KRTAP5-2:NM_001004325:exon1:c.77_78insCGGCTGTGGGGGCTGTGGCTCCGGCTGTGGGGGCTATGGCTC:p.G34_R35insCGGYGSGCGGCGSG,	.	.	495	934	90	0	3	93	0.0459653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.206e-06	0.0011	9.953e-06	8.445e-06	8.592e-06	4.94e-06	3.61e-06	3.7e-06	2.67e-06	0	0	5.617e-05	0	0	0	8.592e-06	4.495e-05	0	2.054e-05	0.0005	0	4.356e-05	0.0001	3.41e-06	1.28e-06	.	.	0	0	0.0001	0	0	0	0	1.999e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	121.94	33	chr11	1598173	.	A	AGAGCCATAGCCCCCACAGCCGGAGCCACAGCCCCCACAGCCG	121.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.330e-01;DP=1219;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0247;MLEAC=1;MLEAF=0.024;MQ=58.97;MQRankSum=-9.768e+00;QD=1.26;ReadPosRankSum=-4.482e+00;SOR=0.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:133,0:133:19:.:.:0,19,3609	20	0	1	0
chr11	1607869	1607869	G	A	exonic	KRTAP5-3	.	nonsynonymous SNV	KRTAP5-3:NM_001012708:exon1:c.C517T:p.P173S,	.	.	435	1077	10	0	0	10	0.00462107	.	.	2700338	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.23	T	0.001	B	0.001	B	.	.	1.000	N	1.915	M	5.19	T	-0.944	T	0.005	T	0.107	-0.161	3.212	-0.162	0.088	-1.379	4.67	0.040	0.00259297718739	0.0002	.	0.0003	0	0.0002	0	0	0.0002	0.0011	0.0013	0.0002523	39	154602	rs201674720	0.0001	0.0001	0.0001	0.0002	0.0016	0.0001	0.0001	0.0008	0.0006	2.997e-05	0	0	0	1.897e-05	0.0016	8.961e-05	0.0003	0.0008	0.0002	0.0002	0.0002	0.0002	0.0013	0.0001	9.809e-05	0.0006	0.0004	2.453e-05	0	6.636e-05	0	0	0	0	0.0003	0	0.0013	0.014	0.53172	D	0.131	0.34596	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	2.53	0.73802	M	5.19	0.01172	T	-6.08	0.89910	D	0.141	0.14054	-0.9437	0.42025	T	0.005	0.01578	T	9	0.0326021	0.01415	T	0.002593	0.05235	T	0.040	0.10527	.	.	0.0806252709748	0.07271	0.03709911176001449	0.03656	0.0209301570774	0.02068	.	.	.	0.098628	0.40264	T	-0.429505	0.01492	T	-0.663048	0.08062	T	0.135738506913185	0.15903	T	.	.	.	0.16437835	0.36641	0.22739103	0.47748	0.16437835	0.36641	0.22739103	0.47747	-7.875	0.60215	D	.	.	0.282	0.51480	B	.	.	1.834603	0.23309	15.97	0.83063333957712349	0.14522	0.00437	0.02136	N	AEFDGBI	0.012930	0.00156	N	-1.14509194023092	0.05861	0.2683051	-1.20876163259635	0.05768	0.275784	0.00833562901249085	0.11656	0.446893	0.09132	0	0.563428	0.19063	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	3.43	-0.162	0.12712	0.033000	0.13642	0.707000	0.20898	0.300000	0.18932	0.000000	0.06391	0.874000	0.27626	0.011000	0.09372	0.2267:0.3422:0.4311:0.0	4.67	0.12068	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	2187.33	35	chr11	1607869	.	G	A	2187.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.187e+00;DP=2587;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=-1.150e+00;SOR=0.689	GT:AD:DP:GQ:PL	0/0:101,0:101:99:0,120,1800	19	0	1	1
chr11	1630194	1630223	CTGTGGCTCCTGTGGGGGGTCCAAGGGGGG	-	exonic	KRTAP5-5	.	nonframeshift deletion	KRTAP5-5:NM_001001480:exon1:c.354_383del:p.C142_Y218delinsYGCSQSSCCKPCCCSSGCGSSCCQSSCCKPYCCQSSCCKPYCCQSSCCKPCSCFSGCGSSCCQSSCYKPCCCQSSCCVPVCCQCKI*,	.	.	452	1018	30	9	13	61	0.0230326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	2243.01	34	chr11	1630163	.	CCTGTGGCTCCTGTGGGGGGTCCAAGGGGGGCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG	CCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG,C	2243.01	.	AC=6,2;AF=0.150,0.050;AN=40;BaseQRankSum=0.830;DP=1501;ExcessHet=0.0002;FS=4.867;InbreedingCoeff=0.6313;MLEAC=6,2;MLEAF=0.150,0.050;MQ=59.40;MQRankSum=-1.210e+00;QD=30.31;ReadPosRankSum=0.389;SOR=0.228	GT:AD:DP:GQ:PL	0/0:72,0,0:72:99:0,120,1800,120,1800,1800	15	3	0	1
chr11	1630164	1630223	CTGTGGCTCCTGTGGGGGGTCCAAGGGGGGCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG	-	exonic	KRTAP5-5	.	nonframeshift deletion	KRTAP5-5:NM_001001480:exon1:c.324_383del:p.C132_Y218delinsYGCSQSSCCKPCCCSSGCGSSCCQSSCCKPYCCQSSCCKPYCCQSSCCKPCSCFSGCGSSCCQSSCYKPCCCQSSCCVPVCCQCKI*,	.	.	452	1018	30	9	13	61	0.0230326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.621e-06	0	0	0	0	1.564e-05	0	0	.	.	.	.	0.0025	0.0025	0.0023	0.0027	0.0078	0.0024	0.0024	0.0070	0.0067	0.0078	0.0033	0.0093	0.0001	0.0010	0.0059	0.0020	0.0044	0.0048	0.0009	0.0043	0.0009	0.0008	0.0016	0.0007	0.0006	0.0012	0.0010	0.0016	0	0.0003	0.0020	0	0	0.0085	0.0006	0.0030	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	2243.01	34	chr11	1630163	.	CCTGTGGCTCCTGTGGGGGGTCCAAGGGGGGCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG	CCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG,C	2243.01	.	AC=6,2;AF=0.150,0.050;AN=40;BaseQRankSum=0.830;DP=1501;ExcessHet=0.0002;FS=4.867;InbreedingCoeff=0.6313;MLEAC=6,2;MLEAF=0.150,0.050;MQ=59.40;MQRankSum=-1.210e+00;QD=30.31;ReadPosRankSum=0.389;SOR=0.228	GT:AD:DP:GQ:PL	0/0:72,0,0:72:99:0,120,1800,120,1800,1800	15	3	0	1
chr11	1630364	1630368	AGTCC	0	exonic	KRTAP5-5	.	.	.	.	.	439	687	51	4	341	400	0.0411724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	5209.38	39	chr11	1630364	.	AGTCC	*,A	5209.38	.	AC=9,2;AF=0.214,0.048;AN=42;BaseQRankSum=0.573;DP=3134;ExcessHet=2.2868;FS=0.532;InbreedingCoeff=-0.1085;MLEAC=9,2;MLEAF=0.214,0.048;MQ=57.01;MQRankSum=-2.192e+00;QD=2.91;ReadPosRankSum=-1.810e-01;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:141,75,0:216:99:.:.:1588,0,4850,2008,5074,7082	11	0	8	0
chr11	1630369	1630395	AGCTGCTGTAAGCCTTACTGCTGCCAG	0	exonic	KRTAP5-5	.	.	.	.	.	437	689	51	4	341	400	0.0410578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	5142.38	39	chr11	1630369	.	AGCTGCTGTAAGCCTTACTGCTGCCAG	*,A	5142.38	.	AC=9,2;AF=0.214,0.048;AN=42;BaseQRankSum=1.23;DP=3144;ExcessHet=2.2868;FS=0.532;InbreedingCoeff=-0.1085;MLEAC=9,2;MLEAF=0.214,0.048;MQ=57.16;MQRankSum=-2.192e+00;QD=2.88;ReadPosRankSum=-3.820e-01;SOR=0.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:141,75,0:216:99:.:.:1588,0,4850,2008,5074,7082	11	0	8	0
chr11	1630383	1630413	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	0	exonic	KRTAP5-5	.	.	.	.	.	532	195	381	185	229	980	0.658195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	48108.27	39	chr11	1630383	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	T,*	48108.27	.	AC=16,11;AF=0.381,0.262;AN=42;BaseQRankSum=-2.940e-01;DP=3975;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=16,11;MLEAF=0.381,0.262;MQ=58.70;MQRankSum=-5.308e+00;QD=15.77;ReadPosRankSum=0.914;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,106,75:181:99:.:.:6682,2095,2603,3595,0,4413	3	3	5	0
chr11	1747855	1747855	G	A	exonic	IFITM10	.	nonsynonymous SNV	IFITM10:NM_001170820:exon2:c.C349T:p.R117W,	.	.	403	1063	53	3	0	59	0.0270023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.305	U	0.950	D	0.975	L	0.7	T	-0.880	T	0.099	T	0.389	3.007	16.03	2.6	1.471	3.334	10.006	0.113	.	0.0059	0.00479233	0.0135	0.0010	0.0091	0	0.0013	0.0118	0.0060	0.0327	0.0031759	491	154602	rs190833491	0.0086	0.0083	0.0082	0.0091	0.0270	0.0085	0.0084	0.0235	0.0222	0.0016	0.0058	0.0158	0	0.0026	0.0270	0.0085	0.0095	0.0180	0.0058	0.0058	0.0059	0.0056	0.0133	0.0055	0.0053	0.0106	0.0097	0.0015	0.0011	0.0059	0.0173	0.0002	0.0014	0.0340	0.0081	0.0119	0.0133	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	0.304973	0.14532	U	0.585427	0.949505	0.37655	D	0.895	0.22405	L	0.7	0.51474	T	-3.29	0.65742	D	0.496	0.52918	-0.8802	0.49746	T	0.099	0.37034	T	8	0.007443428	0.00169	T	.	.	.	0.113	0.31778	.	.	0.483670899158	0.47999	0.4080566555781379	0.40721	.	.	0.858771443367	0.90929	D	0.079636	0.36175	T	-0.403777	0.02186	T	-0.337838	0.40590	T	0.0390152272993604	0.03513	T	0.90231	0.65919	D	0.23435475	0.46254	0.26971132	0.52854	0.23435475	0.46254	0.26971132	0.52853	-5.023	0.37089	T	.	.	0.217	0.57230	B	.;.;.	.;.;.	3.162821	0.42862	21.6	0.99864039732502885	0.94184	0.79864	0.39661	D	AEFDBHCIJ	0.464640	0.51305	N	-0.075401472781962	0.38473	2.25391	-0.103824497521162	0.35235	2.036153	0.999999223515479	0.74766	0.582742	0.33608	0	0.588066	0.40923	0	0.61531	0.40942	0	0.620976	0.48614	0	.	.	2.6	2.6	0.30173	2.462000	0.44706	4.026000	0.41295	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.094000	0.17991	0.0:0.0:0.7973:0.2027	10.006	0.41129	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2462.98	35	chr11	1747855	.	G	A	2462.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.270e-01;DP=890;ExcessHet=0.0000;FS=2.462;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=-8.370e-01;SOR=0.526	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1228	20	0	1	0
chr11	1754122	1754122	C	T	exonic	CTSD	.	nonsynonymous SNV	CTSD:NM_001909:exon7:c.G844A:p.G282R,	Ceroid lipofuscinosis, neuronal, 10, Autosomal recessive	.	0	1426	88	8	0	104	0.0351827	.	.	134325	Neuronal_ceroid_lipofuscinosis|Neuronal_ceroid_lipofuscinosis_10|not_specified|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263|MONDO:MONDO:0012414,MedGen:C1864669,OMIM:610127,Orphanet:228337|MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.34	T	0.011	B	0.014	B	0.433	N	0.947	N	1.185	L	0.42	T	-1.025	T	0.079	T	0.341	1.763	11.85	2.13	0.390	0.659	8.659	0.033	.	0.0045	0.0061901	0.0101	0.0008	0.0024	0.0003	0.0377	0.0087	0.0142	0.0224	0.0080594	1246	154602	rs147278302	0.0068	0.0068	0.0060	0.0076	0.0229	0.0067	0.0066	0.0211	0.0207	0.0006	0.0028	0.0135	0.0001	0.0320	0.0229	0.0048	0.0068	0.0219	0.0070	0.0070	0.0057	0.0084	0.0209	0.0066	0.0065	0.0176	0.0164	0.0008	0	0.0022	0.0136	0.0002	0.0360	0.0204	0.0066	0.0057	0.0209	0.232	0.18626	T	0.43	0.13713	T	0.011	0.15914	B	0.014	0.16862	B	0.432569	0.12729	N	0.767787	0.946974	0.26614	N	1.1	0.28011	L	0.42	0.56937	T	-0.76	0.25986	N	0.291	0.32921	-1.0254	0.21952	T	0.079	0.31405	T	10	0.0025467277	0.00039	T	.	.	.	0.033	0.08068	0.166	0.07071	0.511220899679	0.50763	0.4915701163374237	0.49078	0.63775699092	0.57515	0.327924966812	0.14620	T	0.242323	0.61104	T	-0.454566	0.01061	T	-0.409472	0.32285	T	0.0055011973655921	0.00060	T	0.933807	0.75196	D	0.17140512	0.37772	0.091029905	0.21379	0.17140512	0.37771	0.091029905	0.21379	-10.109	0.74562	D	0.14159384124689586	0.15943	0.272	0.55774	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.713385	0.21816	15.36	0.96623031341708565	0.30488	0.12184	0.17112	N	AEFDBCI	0.269038	0.38540	N	-0.777187391856778	0.13905	0.6885494	-0.763047824866904	0.15402	0.8098793	0.999408125914284	0.39524	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.25	2.13	0.26445	0.777000	0.26379	-0.030000	0.12807	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.770000	0.36519	0.0:0.754:0.149:0.097	8.659	0.33241	982	0.03397	.;.;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1422.98	34	chr11	1754122	.	C	T	1422.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.831;DP=1003;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.96;ReadPosRankSum=-6.840e-01;SOR=0.634	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1065	20	0	1	0
chr11	1836759	1836759	G	T	exonic	SYT8	.	stopgain	SYT8:NM_001290332:exon7:c.G733T:p.E245X	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.668	T	0.250	T	.	5.276	33	2.97	1.674	3.662	12.933	0.148	.	0.0002	0.000399361	0.0004	0.0004	0.0002	0	0	0.0007	0	0.0002	0.0004269	66	154602	rs143303623	0.0007	0.0007	0.0007	0.0006	0.0024	0.0006	0.0006	0.0015	0.0012	8.962e-05	0.0005	0	0	2.061e-05	0.0024	0.0008	0.0011	0.0001	0.0004	0.0004	0.0005	0.0004	0.0007	0.0003	0.0003	0.0006	0.0005	0.0002	0	0.0005	0	0	0	0	0.0007	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.216	0.26837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.306473	0.83476	D	0.61701	0.97470	D	0.1720072072836	0.18716	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	7.990834	0.97064	37	0.99703991038750162	0.80867	0.95598	0.65363	D	AEFDBI	0.168412	0.29516	N	0.61824333829227	0.74327	6.114168	0.324849365961443	0.57004	3.864801	0.999999999892962	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.97	2.97	0.33479	3.196000	0.50722	1.805000	0.28914	0.614000	0.49286	0.997000	0.40164	0.975000	0.29991	0.086000	0.17578	0.0:0.0:1.0:0.0	12.933	0.57695	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	899.98	39	chr11	1836759	.	G	T	899.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=941;ExcessHet=0.0000;FS=3.288;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.04;ReadPosRankSum=-5.640e-01;SOR=1.168	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,111,1665	20	0	1	0
chr11	1883477	1883477	A	G	exonic	LSP1	.	nonsynonymous SNV	LSP1:NM_001013253:exon4:c.A229G:p.S77G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.435	B	0.145	B	0.255	N	1.000	N	0.345	N	1.93	T	-1.073	T	0.034	T	0.093	0.576	7.108	-5.18	-1.090	-0.310	1.514	0.024	0.00543686984645	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1473317251	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.39575	T	0.368	0.20228	T	0.118	0.26577	B	0.026	0.20792	B	0.255063	0.03672	N	1.882580	1	0.08975	N	0.205	0.09354	N	1.93	0.31731	T	-1.48	0.41046	N	0.08	0.05542	-1.0730	0.08766	T	0.034	0.14596	T	10	0.045357108	0.03597	T	0.005437	0.13984	T	0.024	0.04979	0.122	0.02867	0.112648838833	0.10856	0.051526831772740034	0.05094	0.0920708205007	0.10393	0.255605876446	0.04381	T	0.109067	0.42262	T	-0.314679	0.07342	T	-0.689791	0.06401	T	0.0968683956561819	0.12009	T	0.741926	0.36981	T	0.036585767	0.04528	0.038268883	0.03659	0.036585767	0.04528	0.038268883	0.03659	-3.721	0.21208	T	.	.	0.071	0.12228	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	-0.099618	0.03644	0.726	0.67441038848812185	0.08355	0.02983	0.07835	N	AEFBCI	0.097168	0.19604	N	-1.40210201184481	0.02620	0.1159674	-1.53248827868015	0.02099	0.09601812	0.985277456271489	0.30859	0.67177	0.52595	0	0.702456	0.74545	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.02	-5.18	0.02624	-0.231000	0.09081	-3.523000	0.02722	-1.153000	0.01422	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3133:0.3888:0.1373:0.1606	1.514	0.02352	982	0.03397	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	907.98	33	chr11	1883477	.	A	G	907.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.37;DP=746;ExcessHet=0.0000;FS=3.586;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.39;ReadPosRankSum=0.380;SOR=0.817	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1219	20	0	1	0
chr11	1956322	1956322	G	A	exonic	MRPL23	.	nonsynonymous SNV	MRPL23:NM_021134:exon5:c.G364A:p.A122T,	.	.	428	679	340	75	0	490	0.265152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.001	B	0.0	B	.	.	1.000	P	0.145	N	2.52	T	-0.993	T	0.000	T	0.03	0.270	5.460	-6.48	-3.533	-1.103	3.030	0.008	.	0.1153	0.142772	0.1731	0.0428	0.2377	0.1502	0.1645	0.1581	0.1944	0.2832	0.166764	25782	154602	rs12812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	0.06086	T	0.592	0.08161	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.19781	P	0	0.06538	N	2.52	0.14160	T	-0.23	0.10656	N	0.018	0.00279	-0.9925	0.31959	T	0.000	0.00011	T	8	0.0044080913	0.00090	T	.	.	.	0.008	0.00669	.	.	.	.	0.3396820372802284	0.33881	0.158737186331	0.17918	0.323130786419	0.13895	T	3.62E-4	0.00107	T	-0.856647	0.00002	T	-0.85947	0.00848	T	0.000831064513770241	0.00008	T	0.40486	0.10377	T	0.021729477	0.00791	0.044156004	0.05659	0.021729477	0.00791	0.044156004	0.05658	-3.8	0.20805	T	.	.	0.067	0.02428	B	.;.	.;.	-0.790885	0.01125	0.052	0.76585184520990723	0.11527	0.04910	0.10661	N	AEFDBCI	0.224046	0.34832	N	-2.24886597635347	0.00060	0.002550947	-2.33368636121022	0.00056	0.002449201	0.999997702142817	0.74766	0.67177	0.52595	0	0.606735	0.50208	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	3.24	-6.48	0.01726	-1.253000	0.02987	-3.952000	0.02431	-1.233000	0.01324	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2037:0.1638:0.4707:0.1619	3.030	0.05732	964	0.07719	.;.	.	.	.	.	rs12812	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.09524	11120.92	197	chr11	1956322	.	G	A	11120.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-1.153e+00;DP=1450;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=13.25;ReadPosRankSum=0.475;SOR=0.694	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1291	17	0	4	0
chr11	1956368	1956460	GGCAGAGCAGCGACCCGCGGCGGGGCGGCGTCCCCAGCTGGTTCGGGCTGTGACGGGGTGGCCAGCAGGGACGCGCCCCAGGTGGGCAGCTGT	-	exonic	MRPL23	.	stoploss	MRPL23:NM_021134:exon5:c.410_502del:p.V147_L153delinsIPSWFGP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.372e-05	0	0	0	0	4.626e-05	0	6.078e-05	.	.	.	.	3.194e-05	6.029e-05	3.028e-05	3.363e-05	0.0002	2.421e-05	2.156e-05	0.0001	9.108e-05	3.092e-05	5.506e-05	0	0	0	0	2.25e-05	5.287e-05	0.0002	0.0001	0.0002	0.0002	7.457e-05	0.0002	9.463e-05	7.904e-05	9.728e-05	7.508e-05	0.0001	0	0.0002	0	0	0.0002	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1098.94	65	chr11	1956367	.	AGGCAGAGCAGCGACCCGCGGCGGGGCGGCGTCCCCAGCTGGTTCGGGCTGTGACGGGGTGGCCAGCAGGGACGCGCCCCAGGTGGGCAGCTGT	A	1098.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.017;DP=929;ExcessHet=0.0000;FS=3.275;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.14;ReadPosRankSum=-6.149e+00;SOR=0.433	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1291	20	0	1	0
chr11	2133063	2133063	C	T	exonic	IGF2	.	nonsynonymous SNV	IGF2:NM_000612:exon4:c.G467A:p.R156H	.	.	416	1104	2	0	0	2	0.000904977	.	.	724360	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.047	B	0.029	B	0.000	N	1.000	D	2.61	M	-0.6	T	-0.924	T	0.083	T	0.17	1.147	9.671	-1.45	-0.466	0.880	3.235	0.182	.	0.0112	0.0127796	0.0034	0.0355	0.0013	0	0	0.0003	0.0012	7.329e-05	0.0031824	492	154602	rs61732764	0.0012	0.0012	0.0013	0.0011	0.0360	0.0012	0.0012	0.0343	0.0337	0.0360	0.0016	0	2.546e-05	0	0.0030	0.0003	0.0027	0.0002	0.0097	0.0097	0.0106	0.0086	0.0330	0.0092	0.0091	0.0316	0.0310	0.0330	0	0.0040	0	0.0002	0	0	0.0003	0.0052	0.0002	0.014	0.53172	D	0.002	0.83351	D	0.047	0.21998	B	0.018	0.18489	B	0.000010	0.62929	N	0.064020	0.996891	0.44686	D	2.205	0.62170	M	-0.6	0.71662	T	-2.43	0.59059	N	0.137	0.17278	-0.9237	0.45041	T	0.083	0.32499	T	10	0.0084246695	0.00191	T	.	.	.	0.182	0.45420	.	.	0.684305649397	0.68161	0.6169592410154948	0.61627	0.892025483038	0.70256	0.266617000103	0.05704	T	0.583595	0.86402	D	-0.453094	0.01083	T	-0.397852	0.33633	T	0.0422529701050287	0.04101	T	0.877312	0.61335	D	0.07571683	0.17078	0.053804606	0.09132	0.06531305	0.13945	0.069423236	0.14624	-4.092	0.26301	T	0.2732813482623065	0.36727	0.072	0.04159	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.230067	0.16246	12.42	0.95846955872685935	0.27981	0.34969	0.25192	N	AEFDBHCIJ	0.409220	0.48058	N	-1.01327884040713	0.08328	0.3900818	-1.17003590641292	0.06415	0.3087488	0.999970717371	0.50053	0.615465	0.37627	0	0.578056	0.33634	0	0.576033	0.28219	0	0.655142	0.61905	0	.	.	3.06	-1.45	0.08365	0.881000	0.27811	0.562000	0.19521	-0.783000	0.03311	0.014000	0.18986	0.035000	0.21413	0.001000	0.02609	0.1837:0.4777:0.0:0.3386	3.235	0.06361	988	0.01987	Insulin-like growth factor II E-peptide, C-terminal|Insulin-like growth factor II E-peptide, C-terminal;.;Insulin-like growth factor II E-peptide, C-terminal|Insulin-like growth factor II E-peptide, C-terminal;Insulin-like growth factor II E-peptide, C-terminal|Insulin-like growth factor II E-peptide, C-terminal;.;.;Insulin-like growth factor II E-peptide, C-terminal|Insulin-like growth factor II E-peptide, C-terminal;Insulin-like growth factor II E-peptide, C-terminal|Insulin-like growth factor II E-peptide, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	843.98	44	chr11	2133063	.	C	T	843.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=793;ExcessHet=0.0000;FS=1.897;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=0.620;SOR=0.827	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1256	20	0	1	0
chr11	2165311	2165311	C	T	exonic	TH	.	nonsynonymous SNV	TH:NM_000360:exon12:c.G1255A:p.V419M	Segawa syndrome, recessive, Autosomal recessive	YES	0	1518	4	0	0	4	0.00131579	.	.	441420	not_provided|Autosomal_recessive_DOPA_responsive_dystonia|TH-related_disorder	MedGen:C3661900|MONDO:MONDO:0011551,MedGen:C2673535,OMIM:605407,Orphanet:101150|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.12	T	0.945	P	0.41	B	0.000	D	1.000	N	2.71	M	-6.35	D	0.975	D	0.962	D	0.249	1.523	11.04	1.68	0.310	0.368	9.413	0.543	0.67808789092	0.0002	0.000399361	0.0003	0	0.0005	0	0.0008	0.0004	0	6.067e-05	0.0002652	41	154602	rs184106392	0.0003	0.0003	0.0003	0.0003	0.0023	0.0002	0.0002	0.0013	0.0011	0.0003	0.0004	0.0033	2.519e-05	0.0008	0.0023	0.0002	0.0004	5.797e-05	0.0003	0.0003	0.0003	0.0004	0.0008	0.0003	0.0002	0.0005	0.0004	4.813e-05	0	0.0008	0.0029	0	0.0007	0	0.0003	0	0.0002	0.025	0.47320	D	0.094	0.52389	T	0.849	0.46879	P	0.33	0.42079	B	0.000007	0.62929	D	0.063348	0.99984	0.53665	D	2.77	0.80896	M	-6.35	0.99666	D	-2.16	0.48850	N	0.407	0.47301	0.975	0.96782	D	0.962	0.98783	D	10	0.16525722	0.30893	T	0.678088	0.97328	D	0.543	0.80960	.	.	0.903889715859	0.90293	0.5586178128385867	0.55788	0.740263202564	0.63223	0.339828282595	0.16412	T	0.888512	0.97716	D	-0.0659925	0.41965	T	-0.00460974	0.70036	D	0.0655731881956561	0.08016	T	0.889111	0.62170	D	0.5656577	0.70822	0.37036392	0.62287	0.5656577	0.70823	0.37036392	0.62287	-7.775	0.67903	D	0.20341262228783946	0.27082	0.119	0.25100	B	.;.;.;.	.;.;.;.	2.385035	0.30617	18.49	0.98992623658267909	0.49983	0.20752	0.21156	N	AEFDBI	0.228974	0.35257	N	-0.276225320197688	0.30068	1.673243	-0.425508214577846	0.24251	1.326986	0.232902467710108	0.18485	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.66	1.68	0.23219	0.650000	0.24544	0.668000	0.20568	0.549000	0.26987	0.018000	0.19461	0.135000	0.23037	0.468000	0.28296	0.0:0.8139:0.0:0.1861	9.413	0.37668	988	0.01987	Aromatic amino acid hydroxylase, C-terminal|Aromatic amino acid hydroxylase, C-terminal|Aromatic amino acid hydroxylase, C-terminal;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1876.98	41	chr11	2165311	.	C	T	1876.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.91;DP=991;ExcessHet=0.0000;FS=3.288;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.68;ReadPosRankSum=0.307;SOR=0.930	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr11	2299635	2299635	-	G	exonic	C11orf21	.	frameshift insertion	C11orf21:NM_001329958:exon3:c.219dupC:p.T74Hfs*4	.	.	414	1103	5	0	0	5	0.00226142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.00499201	0.0020	0	0	0.0257	0	0.0006	0.0049	0.0025	0.0005369	83	154602	rs3214127	0.0012	0.0012	0.0011	0.0013	0.0377	0.0012	0.0012	0.0360	0.0353	0	0.0001	0.0019	0.0377	0	0.0005	9.083e-05	0.0015	0.0018	0.0013	0.0014	0.0011	0.0016	0.0338	0.0012	0.0011	0.0297	0.0281	0	0	6.536e-05	0.0020	0.0338	0	0	0.0002	0.0005	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1276.94	35	chr11	2299635	.	T	TG	1276.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.15;DP=769;ExcessHet=0.0000;FS=2.936;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.96;ReadPosRankSum=-4.050e-01;SOR=0.525	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1261	20	0	1	0
chr11	2421154	2421154	G	T	exonic	TRPM5	.	nonsynonymous SNV	TRPM5:NM_014555:exon3:c.C343A:p.H115N,	.	.	412	1109	1	0	0	1	0.000450653	.	.	2351759	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.29	T	0.112	B	0.062	B	0.002	N	0.687	D	2.155	M	3.89	T	-1.057	T	0.013	T	0.246	0.113	4.606	1.81	0.630	1.026	6.374	0.071	0.00973368124059	.	.	.	.	.	.	.	.	.	.	.	.	.	rs780630779	1.151e-05	1.779e-05	1.279e-05	1.02e-05	0.0005	6.82e-06	5.52e-06	0.0001	7.736e-05	0	0	0	0	0	0.0005	1.114e-05	1.73e-05	0	1.97e-05	1.97e-05	2.569e-05	1.344e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0.0032	2.94e-05	0	0	0.42	0.11442	T	1.0	0.01155	T	0.112	0.26290	B	0.062	0.26930	B	0.001745	0.38106	N	0.164709	0.687344	0.33292	D	2.555	0.74557	M	3.89	0.03544	T	-2.86	0.60188	D	0.372	0.41754	-1.0566	0.12621	T	0.013	0.05273	T	10	0.18904543	0.34486	T	0.009734	0.25404	T	0.071	0.20720	0.595	0.72494	0.0138822411134	0.00435	0.546095618406618	0.54535	0.122578150867	0.13811	0.671990990639	0.63121	T	0.499817	0.82067	T	-0.225239	0.17283	T	-0.561317	0.16254	T	0.226745113730431	0.21795	T	0.734027	0.34984	T	0.07493133	0.16850	0.0864613	0.20033	0.07493133	0.16850	0.0864613	0.20033	-12.288	0.86225	D	.	.	0.196	0.44948	B	.;.;.;.	.;.;.;.	1.571662	0.20120	14.60	0.68587171644204692	0.08704	0.80201	0.39902	D	AEFDBCI	0.370597	0.45691	N	-0.602369616972555	0.18872	0.9833398	-0.642724795225249	0.18401	0.9827925	0.99976107754869	0.42728	0.525926	0.21836	0	0.615948	0.52940	0	0.606814	0.37721	0	0.691587	0.68394	0	.	.	3.97	1.81	0.24139	1.900000	0.39460	0.735000	0.21116	0.618000	0.50648	0.976000	0.34826	0.071000	0.22219	0.200000	0.21896	0.2746:0.0:0.7254:0.0	6.374	0.20703	988	0.01987	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1441.98	33	chr11	2421154	.	G	T	1441.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.410e-01;DP=851;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.01;ReadPosRankSum=-5.550e-01;SOR=0.653	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr11	2587620	2587620	G	T	exonic	KCNQ1	.	nonsynonymous SNV	KCNQ1:NM_000218:exon9:c.G1179T:p.K393N	Atrial fibrillation, familial, 3, Autosomal dominant;Jervell and Lange-Nielsen syndrome, Autosomal recessive;Long QT syndrome 1, Autosomal dominant;Short QT syndrome 2, Autosomal dominant	YES	1	1497	22	2	0	26	0.00860927	.	.	77916	Cardiovascular_phenotype|Cardiac_arrhythmia|Long_QT_syndrome_1|Congenital_long_QT_syndrome|not_specified|not_provided|Short_QT_syndrome_type_2|Atrial_fibrillation,_familial,_3|Jervell_and_Lange-Nielsen_syndrome_1|Long_QT_syndrome|Cardiomyopathy	MedGen:CN230736|EFO:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811|MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768|MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012313,MedGen:C1865019,OMIM:609621,Orphanet:51083|MONDO:MONDO:0011857,MedGen:C1837014,OMIM:607554|MONDO:MONDO:0024540,MedGen:C4551509,OMIM:220400,Orphanet:768,Orphanet:90647|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.19	T	0.77	P	0.5	P	0.000	N	0.991	D	1.82	L	-5.74	D	0.849	D	0.939	D	0.514	0.472	6.560	0.592	0.157	0.373	4.895	0.554	0.267829732212	0.0007	0.000599042	0.0011	0.0003	0.0014	0	0.0008	0.0012	0.0022	0.0015	0.0010349	160	154602	rs12720457	0.0008	0.0008	0.0007	0.0009	0.0080	0.0008	0.0007	0.0061	0.0055	0.0007	0.0015	0.0025	0	0.0006	0.0080	0.0006	0.0012	0.0017	0.0006	0.0006	0.0005	0.0007	0.0015	0.0005	0.0005	0.0007	0.0005	0.0001	0	0.0009	0.0020	0	0.0006	0.0068	0.0007	0.0005	0.0015	0.174	0.22486	T	0.193	0.31833	T	0.77	0.43887	P	0.5	0.47649	P	0.000000	0.84330	N	0.049620	0.983504	0.41186	D	2.16	0.60381	M	-5.83	0.99392	D	-2.25	0.50337	N	0.805	0.80083	0.849	0.95010	D	0.939	0.98006	D	10	0.026480198	0.00813	T	0.26783	0.89762	D	0.554	0.81601	0.823	0.93527	0.904958230561	0.90401	0.8615672957541449	0.86120	0.440487623201	0.44055	0.651963949203	0.60264	T	0.764798	0.93657	D	-0.141053	0.29723	T	0.00559607	0.70698	D	0.0175471631554296	0.00488	T	0.80302	0.45008	T	0.41296875	0.61620	0.15783057	0.36887	0.4878025	0.66372	0.21849662	0.46553	-8.727	0.65923	D	0.3174439766005681	0.41551	0.422	0.60751	A	.;.;.	.;.;.	3.121519	0.42144	21.5	0.96064174600266095	0.28602	0.78620	0.38816	D	AEFDBI	0.278446	0.39273	N	-0.597937330864264	0.19007	0.9914156	-0.593143438029263	0.19671	1.056447	0.00633602430930672	0.11191	0.676563	0.55306	0	0.588015	0.36545	0	0.673471	0.61138	0	0.613276	0.41899	0	.	.	4.72	0.592	0.16654	0.568000	0.23326	0.435000	0.18365	-0.633000	0.04490	1.000000	0.71638	0.982000	0.30508	0.229000	0.22707	0.3486:0.1533:0.4981:0.0	4.895	0.13100	976	0.04745	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	1623.98	34	chr11	2587620	.	G	T	1623.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.270e-01;DP=843;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.97;ReadPosRankSum=-6.420e-01;SOR=0.665	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1149	20	0	1	0
chr11	2884861	2884866	GGGGCC	-	exonic	CDKN1C	.	nonframeshift deletion	CDKN1C:NM_000076:exon1:c.624_629del:p.A215_P216del	Beckwith-Wiedemann syndrome, Autosomal dominant;IMAGE syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	241103	Beckwith-Wiedemann_syndrome|IMAGe_syndrome|not_provided|not_specified	MONDO:MONDO:0007534,MedGen:C0004903,OMIM:130650,Orphanet:116|MONDO:MONDO:0013873,MedGen:C1846009,OMIM:614732,Orphanet:85173|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010373	27	26028	rs878853639	0.0007	0.0009	0.0007	0.0007	0.0143	0.0007	0.0007	0.0113	0.0103	0.0011	0.0143	0	0	0.0002	0.0038	0.0006	0.0011	0.0020	0.0064	0.0063	0.0059	0.0069	0.0411	0.0060	0.0059	0.0383	0.0373	0.0044	0	0.0411	0	0.0002	0.0002	0.0072	0.0016	0.0094	0.0028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	68.02	20	chr11	2884860	.	GGGGGCC	G	68.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.670e-01;DP=416;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0295;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.67;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/0:19,0:19:30:0,30,450	20	0	1	0
chr11	2884879	2884890	GGGGCCGGGGCT	-	exonic	CDKN1C	.	nonframeshift deletion	CDKN1C:NM_000076:exon1:c.600_611del:p.A213_P216del	Beckwith-Wiedemann syndrome, Autosomal dominant;IMAGE syndrome, Autosomal dominant	.	584	934	2	0	2	4	0.00106952	.	.	241108	Beckwith-Wiedemann_syndrome|CDKN1C-related_disorder|Inborn_genetic_diseases|not_specified|not_provided	MONDO:MONDO:0007534,MedGen:C0004903,OMIM:130650,Orphanet:116|.|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs878853634	0.0004	0.0003	0.0004	0.0004	0.0090	0.0004	0.0004	0.0077	0.0073	0.0090	0	0	0.0055	0	0.0012	9.131e-05	0.0013	0.0032	0.0039	0.0039	0.0041	0.0038	0.0110	0.0037	0.0035	0.0101	0.0098	0.0110	0	0.0017	0	0.0105	0	0	0.0002	0.0056	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	71.39	7	chr11	2884878	.	CGGGGCCGGGGCT	C	71.39	.	AC=2;AF=0.050;AN=40;DP=179;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5313;MLEAC=1;MLEAF=0.025;MQ=60.00;QD=22.68;SOR=2.303	GT:AD:DP:GQ:PL	0/0:6,0:6:12:0,12,180	19	1	0	1
chr11	2922506	2922506	A	G	exonic	SLC22A18	.	nonsynonymous SNV	SLC22A18:NM_001315502:exon8:c.A743G:p.N248S	Breast cancer, somatic;Lung cancer, somatic;Rhabdomyosarcoma, somatic	.	7	1512	3	0	0	3	0.00099108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9	T	0.562	P	0.268	B	0.006	N	1.000	N	2.125	M	0.4	T	-0.750	T	0.345	T	0.33	0.720	7.830	3.63	0.704	2.101	4.035	0.244	0.117548589647	7.7e-05	.	8.828e-06	0	0	0	0	0	0	6.478e-05	6.5e-06	1	154602	rs143509928	4.107e-06	4.104e-06	2.724e-06	5.504e-06	4.644e-05	1.48e-06	9.7e-07	1.584e-05	9.31e-06	0	0	0	0	0	0	8.994e-07	1.657e-05	4.644e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.26629	T	0.109	0.39190	T	0.097	0.38380	B	0.056	0.39801	B	0.005938	0.32398	N	0.288442	0.999995	0.08975	N	2.065	0.56745	M	-1.42	0.80645	T	-1.99	0.56945	N	0.466	0.51226	-0.7497	0.57951	T	0.345	0.70996	T	10	0.18368408	0.33707	T	0.117549	0.79735	D	0.244	0.55061	.	.	0.803246272748	0.80140	0.24764755615228815	0.24678	0.21105830166	0.23610	0.545429646969	0.45212	T	0.004715	0.04123	T	-0.00425815	0.51066	T	-0.243893	0.50417	T	0.177340939640999	0.19066	T	0.788921	0.44280	T	0.058431935	0.11754	0.058048602	0.10660	0.058431935	0.11753	0.058048602	0.10660	-4.131	0.25745	T	.	.	0.128	0.27373	B	.;.;.;.;.	.;.;.;.;.	1.266732	0.16649	12.68	0.97170742062610493	0.32673	0.60470	0.31205	D	AEFDBI	0.284379	0.39725	N	-0.299505146179327	0.29167	1.615113	-0.243187699455136	0.30007	1.685839	0.665632040532872	0.22319	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.75	3.63	0.40741	1.748000	0.37935	2.537000	0.33196	0.740000	0.86194	0.986000	0.36153	0.874000	0.27626	0.303000	0.24570	0.6296:0.1813:0.1891:0.0	4.035	0.09209	970	0.06235	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	505.98	39	chr11	2922506	.	A	G	505.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.690e-01;DP=800;ExcessHet=0.0000;FS=0.889;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.32;ReadPosRankSum=0.081;SOR=0.774	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1157	20	0	1	0
chr11	3038130	3038130	C	A	exonic	CARS1	.	nonsynonymous SNV	CARS1:NM_001378140:exon4:c.G196T:p.A66S	.	.	434	1016	66	6	0	78	0.0369668	.	.	701727	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.72	T	0.007	B	0.027	B	0.002	N	1.000	N	0.95	L	0.95	T	-1.024	T	0.042	T	0.07	0.957	8.904	1.89	0.264	0.171	6.191	0.068	.	0.0078	0.00738818	0.0099	0.0014	0.0065	0.0001	0.0030	0.0104	0.0187	0.0228	0.0095212	1472	154602	rs12796489	0.0100	0.0100	0.0094	0.0106	0.0394	0.0099	0.0098	0.0352	0.0335	0.0017	0.0067	0.0121	7.557e-05	0.0040	0.0394	0.0097	0.0110	0.0239	0.0076	0.0076	0.0076	0.0076	0.0232	0.0072	0.0071	0.0197	0.0184	0.0017	0	0.0102	0.0110	0	0.0033	0.0408	0.0105	0.0099	0.0232	0.643	0.04957	T	0.52	0.10465	T	0.003	0.12996	B	0.015	0.20792	B	0.001760	0.38106	N	0.256618	1	0.08975	N	0.325	0.10370	N	0.94	0.43672	T	0.24	0.04533	N	0.146	0.15609	-1.0238	0.22476	T	0.042	0.18035	T	10	0.0089785755	0.00203	T	.	.	.	0.068	0.19811	.	.	0.268211541103	0.26431	0.41422578982597624	0.41338	0.231550034422	0.25707	0.272399067879	0.06456	T	0.065227	0.32635	T	-0.664305	0.00059	T	-0.709419	0.05325	T	0.000694211314457137	0.00006	T	.	.	.	0.05427984	0.10392	0.04404145	0.05617	0.05427984	0.10391	0.04404145	0.05616	-4.286	0.27980	T	.	.	0.080	0.09530	B	.;.;.;.	.;.;.;.	-0.223372	0.02973	0.443	0.88549503278566	0.18065	0.25720	0.22782	N	AEFGBCI	0.105898	0.21146	N	-1.04813854451331	0.07624	0.354797	-1.07389750514943	0.08216	0.4030183	0.999994626051788	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.86	1.89	0.24700	0.330000	0.19460	-0.382000	0.09534	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.1906:0.7114:0.0:0.098	6.191	0.19738	884	0.28482	.;tRNA synthetases class I, catalytic domain|tRNA synthetases class I, catalytic domain;.;tRNA synthetases class I, catalytic domain|tRNA synthetases class I, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1793.98	35	chr11	3038130	.	C	A	1793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.845;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=-1.122e+00;SOR=0.687	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1116	20	0	1	0
chr11	3122407	3122407	C	T	exonic	OSBPL5	.	nonsynonymous SNV	OSBPL5:NM_001144063:exon4:c.G241A:p.G81R	.	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	1.0	D	1.0	D	0.000	D	1.000	D	1.955	M	1.16	T	-0.035	T	0.486	T	0.621	4.569	24.8	4.28	2.237	6.997	15.915	0.248	0.210784612349	0.0002	0.000199681	0.0005	0	0.0006	0	0	0.0003	0.0012	0.0017	0.000401	62	154602	rs201350460	0.0002	0.0002	0.0002	0.0003	0.0015	0.0002	0.0002	0.0013	0.0012	5.974e-05	0.0006	0.0014	0	1.878e-05	0.0012	9.623e-05	0.0003	0.0015	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	0.0001	4.812e-05	0	0.0003	0.0009	0	0	0	0.0002	0.0005	0.0006	0.057	0.91255	T	0.104	0.92824	T	1.0	0.90584	D	0.993	0.81110	D	0.000116	0.50451	D	0.081091	0.999999	0.81001	D	2.485	0.72352	M	1.16	0.72678	T	-2.33	0.93974	N	0.699	0.77226	-0.0353	0.81519	T	0.486	0.80431	T	10	0.05830264	0.06833	T	0.210785	0.87270	D	0.248	0.55615	0.33	0.31519	0.857056292576	0.85567	0.39491117035532547	0.39406	0.7076550198	0.61502	0.685954391956	0.65124	T	0.239116	0.63705	T	-0.18009	0.23722	T	-0.061543	0.66224	T	0.328607380390167	0.26169	T	0.928457	0.80429	D	0.1704473	0.37620	0.16487084	0.38170	0.1704473	0.37620	0.16487084	0.38169	-7.643	0.62101	D	.	.	0.318	0.75935	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.272619	0.65018	24.8	0.99933892423806014	0.99535	0.99359	0.94992	D	AEFDGBI	0.879887	0.80614	D	0.572823176853756	0.71481	5.657577	0.525923784555433	0.69741	5.403725	0.999999999999995	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.28	4.28	0.50183	6.992000	0.76004	7.343000	0.58258	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.050000	0.15192	0.0:1.0:0.0:0.0	15.915	0.79294	940	0.13648	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1322.98	38	chr11	3122407	.	C	T	1322.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.020e-01;DP=875;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.19;ReadPosRankSum=1.15;SOR=0.703	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr11	3218075	3218075	G	A	exonic	MRGPRG	.	nonsynonymous SNV	MRGPRG:NM_001164377:exon1:c.C739T:p.P247S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	0.999	N	2.985	M	-5.15	D	0.381	D	0.857	D	0.74	3.271	16.98	3.54	1.951	5.334	10.784	0.612	.	.	0.00678914	0.0038	0.0375	0.0065	0	0	0.0005	0	0	0.0007244	112	154602	rs140657678	0.0008	0.0008	0.0009	0.0007	0.0248	0.0008	0.0008	0.0234	0.0228	0.0248	0.0017	0	0	0	0.0015	0.0001	0.0020	0.0001	0.0072	0.0072	0.0073	0.0070	0.0243	0.0068	0.0067	0.0231	0.0226	0.0243	0	0.0035	0	0	0	0.0139	0.0001	0.0053	0	0.0	0.91255	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	0.999137	0.21587	N	3.62	0.93917	H	-5.15	0.98780	D	-7.28	0.94430	D	0.591	0.61087	0.381	0.88808	D	0.857	0.95227	D	7	0.014520794	0.00305	T	.	.	.	0.612	0.84826	.	.	0.999333392624	0.99932	0.6905554775349948	0.68995	.	.	0.375596404076	0.21632	T	0.333887	0.70369	T	0.0155315	0.53776	T	0.267119	0.86430	D	0.113944751782324	0.13827	T	0.476552	0.14308	T	0.38863596	0.59934	0.42499313	0.66322	0.38863596	0.59935	0.42499313	0.66322	-7.371	0.56700	T	.	.	0.319	0.54412	B	.	.	3.261197	0.44598	22.0	0.99792133391184334	0.87750	0.93990	0.59782	D	AEFDBI	0.370584	0.45690	N	0.146688343404127	0.48655	3.075159	0.00691190641923753	0.40035	2.382953	0.999937107994667	0.46732	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.54	3.54	0.39650	4.135000	0.57758	5.907000	0.50968	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.006000	0.07323	0.0:0.0:1.0:0.0	10.784	0.45593	976	0.04745	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	562.98	35	chr11	3218075	.	G	A	562.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.671;DP=759;ExcessHet=0.0000;FS=2.263;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.71;ReadPosRankSum=0.680;SOR=1.022	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,110,1361	20	0	1	0
chr11	3218489	3218489	A	G	exonic	MRGPRG	.	nonsynonymous SNV	MRGPRG:NM_001164377:exon1:c.T325C:p.F109L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	.	.	.	.	.	.	1.000	N	1.945	M	1.16	T	-1.022	T	0.033	T	0.146	1.779	11.91	-0.137	-0.237	0.067	1.721	0.039	0.00182177967718	.	0.00259585	0.0009	0.0087	0.0041	0	0	0.0004	0	0	0.0002329	36	154602	rs182921716	0.0003	0.0003	0.0003	0.0003	0.0086	0.0002	0.0002	0.0077	0.0074	0.0086	0.0007	0	0	0	0.0006	1.115e-05	0.0009	3.809e-05	0.0021	0.0021	0.0021	0.0021	0.0071	0.0019	0.0019	0.0064	0.0062	0.0071	0	0.0015	0	0	0	0	2.959e-05	0.0024	0	0.199	0.20456	T	0.088	0.40586	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	2	0.54354	M	1.16	0.38073	T	-3.72	0.70793	D	0.104	0.08786	-1.0217	0.23162	T	0.033	0.14117	T	7	0.011539996	0.00252	T	0.001822	0.03141	T	0.039	0.10176	0.654	0.79172	0.408172294925	0.40431	0.16592084580151317	0.16512	.	.	0.413725733757	0.26972	T	0.065132	0.32612	T	-0.55698	0.00265	T	-0.568274	0.15609	T	0.0245646204563069	0.01216	T	0.364964	0.08484	T	0.09832281	0.23190	0.08821727	0.20557	0.09832281	0.23189	0.08821727	0.20556	-5.526	0.42110	T	.	.	0.517	0.65341	A	.	.	0.696183	0.10651	7.348	0.81504323345198781	0.13718	0.07016	0.13042	N	AEFDBI	0.081449	0.16482	N	-0.609316755555232	0.18663	0.9707712	-0.804225844550994	0.14393	0.7518251	0.98686740588803	0.31140	0.517182	0.21443	0	0.573888	0.26702	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	3.73	-0.137	0.12811	0.606000	0.23891	-0.544000	0.08566	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.5625:0.1719:0.0997:0.1659	1.721	0.02735	976	0.04745	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1184.98	35	chr11	3218489	.	A	G	1184.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.072e+00;DP=785;ExcessHet=0.0000;FS=6.668;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.80;ReadPosRankSum=0.021;SOR=0.254	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,108,1620	20	0	1	0
chr11	3639023	3639023	C	G	exonic	ART5	.	nonsynonymous SNV	ART5:NM_001297668:exon3:c.G596C:p.R199P	.	.	413	1107	2	0	0	2	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.709	P	0.379	B	0.352	N	1.000	N	0.255	N	3.03	T	-1.057	T	0.019	T	0.47	1.782	11.92	-2.78	-0.292	-1.602	0.736	0.083	.	.	0.00559105	0.0082	0	0.0019	0	0	0	0	0.0223	0.0019599	303	154602	rs550234024	0.0013	0.0013	0.0007	0.0019	0.0208	0.0013	0.0013	0.0200	0.0196	6.321e-05	2.772e-05	0	5.577e-05	0	0.0006	9.071e-05	0.0016	0.0208	0.0007	0.0007	0.0004	0.0010	0.0218	0.0006	0.0006	0.0184	0.0171	7.216e-05	0	0	0	0	0	0	0	0.0005	0.0218	0.179	0.22053	T	0.226	0.33894	T	0.001	0.42056	B	0.001	0.43814	B	0.352360	0.04253	N	1.441760	1	0.08975	N	0.805	0.20218	L	3.03	0.12268	T	0.14	0.37759	N	0.176	0.23125	-1.0572	0.12465	T	0.019	0.07893	T	10	0.0029238164	0.00047	T	.	.	.	0.083	0.24192	0.421	0.46365	0.0716867268079	0.06686	0.44726586163586174	0.44644	0.0550484155351	0.06097	0.242885142565	0.03056	T	0.008633	0.07910	T	-0.554105	0.00275	T	-0.55179	0.17155	T	0.0325571467474811	0.02397	T	0.475952	0.14261	T	0.11515167	0.27177	0.10296361	0.24692	0.11515167	0.27177	0.10296361	0.24691	-3.083	0.16000	T	.	.	0.081	0.19194	B	.;.;.;.	.;.;.;.	0.033251	0.04515	1.217	0.96277208317872776	0.29270	0.02071	0.06169	N	AEFDGBI	0.163931	0.29027	N	-1.14583503020039	0.05848	0.2677042	-1.15238080398624	0.06725	0.3246825	0.52328734033285	0.21114	0.615465	0.37627	0	0.627178	0.54094	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.87	-2.78	0.05512	-1.588000	0.02209	-12.661000	0.00509	-0.918000	0.02213	0.000000	0.06391	0.000000	0.08366	0.948000	0.49324	0.1562:0.2447:0.2527:0.3464	0.736	0.00904	836	0.38045	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	883.98	33	chr11	3639023	.	C	G	883.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.400e-01;DP=1190;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.41;ReadPosRankSum=2.01;SOR=0.679	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1199	20	0	1	0
chr11	3659926	3659926	G	A	exonic	ART1	.	nonsynonymous SNV	ART1:NM_004314:exon3:c.G407A:p.R136H,	.	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.98	D	0.000	D	0.996	D	3.055	M	2.54	T	-0.847	T	0.137	T	0.809	3.672	18.66	5.53	2.603	6.079	16.956	0.321	0.0357088248972	0.0018	0.000399361	0.0014	0.0007	0.0003	0	0.0003	0.0023	0.0023	0.0001	0.0015394	238	154602	rs148703944	0.0023	0.0023	0.0022	0.0023	0.0045	0.0022	0.0022	0.0032	0.0027	0.0004	0.0004	3.835e-05	2.519e-05	0.0002	0.0045	0.0028	0.0018	0.0001	0.0016	0.0016	0.0018	0.0014	0.0031	0.0014	0.0014	0.0028	0.0026	0.0004	0.0055	0.0004	0	0.0002	9.411e-05	0	0.0031	0.0005	0.0004	0.009	0.57480	D	0.05	0.48080	T	1.0	0.90584	D	0.98	0.74843	D	0.000000	0.84330	D	0.050604	0.996494	0.43237	D	3.795	0.95366	H	2.54	0.13916	T	-4.23	0.75935	D	0.587	0.60749	-0.8467	0.52195	T	0.137	0.45318	T	9	0.045660466	0.03662	T	0.035709	0.56521	D	0.321	0.64318	.	.	0.605204069629	0.60204	0.6300160545473981	0.62935	0.212149430145	0.23708	0.639756917953	0.58530	T	0.264225	0.63597	T	-0.206759	0.19837	T	-0.0740751	0.65335	T	0.358116000890732	0.27336	T	0.90471	0.66491	D	0.73395777	0.79948	0.69287777	0.81923	0.73395777	0.79949	0.69287777	0.81924	-6.202	0.47939	T	.	.	0.256	0.49088	B	.	.	4.700664	0.75409	26.3	0.9994936026841188	0.99931	0.97869	0.77741	D	AEFDBI	0.638268	0.61675	D	0.694982188454827	0.79302	7.049448	0.61171541755448	0.75790	6.373188	0.999999984088445	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.53	5.53	0.82530	4.129000	0.57713	11.819000	0.97178	0.618000	0.50648	0.993000	0.37899	1.000000	0.68203	0.090000	0.17789	0.0:0.0:1.0:0.0	16.956	0.86130	808	0.43318	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2520.98	98	chr11	3659926	.	G	A	2520.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.561e+00;DP=1373;ExcessHet=0.0000;FS=1.110;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.86;ReadPosRankSum=1.00;SOR=0.804	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1456	20	0	1	0
chr11	3666219	3666219	C	T	exonic	CHRNA10	.	nonsynonymous SNV	CHRNA10:NM_001303034:exon5:c.G623A:p.R208H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.007	B	0.003	B	0.001	N	1.000	D	1.735	L	-0.52	T	-0.811	T	0.143	T	0.202	2.314	13.69	3.76	0.735	-0.251	8.630	0.104	.	0.0015	0.00279553	0.0005	0.0048	0.0002	0	0	7.584e-05	0	0.0001	0.0005369	83	154602	rs116632003	0.0002	0.0002	0.0002	0.0001	0.0048	0.0001	0.0001	0.0042	0.0040	0.0048	0.0003	0	0	7.507e-05	0.0002	3.058e-05	0.0003	5.797e-05	0.0013	0.0013	0.0012	0.0013	0.0043	0.0011	0.0011	0.0038	0.0036	0.0043	0	0.0005	0	0	0	0	7.351e-05	0.0009	0	0.091	0.31834	T	0.116	0.36497	T	0.007	0.14184	B	0.003	0.08700	B	0.001294	0.39521	N	0.107152	1	0.81001	D	1.935	0.51832	L	-0.52	0.70717	T	-1.13	0.29114	N	0.087	0.06454	-0.8106	0.54514	T	0.143	0.46514	T	10	0.0041692555	0.00082	T	.	.	.	0.104	0.29647	.	.	0.582105859106	0.57882	0.3655076293872003	0.36464	0.161394448648	0.18220	0.273662447929	0.06624	T	0.191572	0.54646	T	-0.393121	0.02568	T	-0.337201	0.40661	T	0.0500503027747435	0.05509	T	0.638636	0.25202	T	0.06690656	0.14441	0.077186316	0.17170	0.06690656	0.14441	0.077186316	0.17170	-7.54	0.57891	D	.	.	0.075	0.05535	B	.	.	2.204361	0.28116	17.69	0.99574272713243506	0.72621	0.28080	0.23455	N	AEFDGBI	0.156126	0.28143	N	-0.393457460445773	0.25701	1.397146	-0.309252718473825	0.27798	1.545128	0.996256383592238	0.34624	0.372202	0.05800	0	0.546412	0.12157	0	0.578056	0.29568	0	0.491896	0.07777	0	.	.	5.61	3.76	0.42368	-0.244000	0.08921	-0.017000	0.12978	-0.173000	0.11020	0.001000	0.13787	0.730000	0.26410	0.976000	0.56436	0.0:0.765:0.0:0.235	8.630	0.33076	845	0.36510	Neurotransmitter-gated ion-channel transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	862.98	36	chr11	3666219	.	C	T	862.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.770;DP=845;ExcessHet=0.0000;FS=1.935;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.580;SOR=1.016	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr11	3731470	3731470	T	C	exonic	NUP98	.	nonsynonymous SNV	NUP98:NM_001365129:exon13:c.A1510G:p.T504A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	0.001	B	0.002	B	0.000	N	0.991	N	0.485	N	.	.	-1.005	T	0.051	T	0.137	0.950	8.876	4.42	0.946	1.906	7.998	0.057	0.00141440645871	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1464877132	1.579e-05	1.642e-05	1.093e-05	2.071e-05	1.893e-05	1.052e-05	8.79e-06	1.216e-05	1.032e-05	0	0	0	0	0	0	1.893e-05	3.323e-05	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.356	0.12070	T	0.54	0.12668	T	0.001	0.07471	B	0.002	0.06944	B	0.000137	0.49741	N	0.183269	0.990601	0.24149	N	-0.345	0.03330	N	.	.	.	-0.14	0.09796	N	0.084	0.10056	-1.0054	0.28337	T	0.051	0.21533	T	9	0.04568118	0.03668	T	0.001414	0.02088	T	0.074	0.21613	0.145	0.04843	0.174091166621	0.17034	0.2290657622806023	0.22821	0.186280126932	0.20939	0.535473644733	0.43805	T	0.038426	0.24835	T	-0.199592	0.20863	T	-0.524476	0.19841	T	0.0425102818968834	0.04149	T	0.779122	0.41282	T	0.061436575	0.12722	0.10668686	0.25671	0.061436575	0.12722	0.10668686	0.25670	-6.048	0.46753	T	.	.	0.056	0.00658	B	.;.;.;.;.	.;.;.;.;.	2.458581	0.31669	18.81	0.86235986046314872	0.16402	0.85787	0.44959	D	AEFDGBI	0.105441	0.21067	N	-0.506617924084914	0.21866	1.163518	-0.287142160938435	0.28522	1.590914	0.796030726159292	0.24101	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.54	4.42	0.52775	1.903000	0.39488	3.460000	0.38507	0.609000	0.47794	0.965000	0.33920	1.000000	0.68203	0.996000	0.76049	0.0:0.1743:0.0:0.8257	7.998	0.29438	538	0.73119	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1108.98	35	chr11	3731470	.	T	C	1108.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.351e+00;DP=828;ExcessHet=0.0000;FS=2.300;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.94;ReadPosRankSum=-6.540e-01;SOR=0.551	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1088	20	0	1	0
chr11	4449430	4449430	A	C	exonic	OR52K2	.	nonsynonymous SNV	OR52K2:NM_001005172:exon1:c.A91C:p.I31L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.985	D	0.946	D	0.006	N	0.999	N	1.31	L	6.51	T	-0.795	T	0.003	T	0.36	0.796	8.189	4.42	1.847	-0.140	5.206	0.149	0.00248912756009	.	0.00139776	0.0007	0	0	0	0	0	0	0.0082	0.0006598	102	154602	rs542324876	0.0004	0.0004	0.0002	0.0006	0.0073	0.0004	0.0004	0.0068	0.0066	0	0	0	0	0	0	3.666e-06	0.0005	0.0073	0.0002	0.0002	7.712e-05	0.0003	0.0067	0.0002	0.0001	0.0048	0.0042	0	0	0	0	0	0	0	0	0	0.0067	0.279	0.15561	T	0.277	0.21880	T	0.985	0.61118	D	0.946	0.68276	D	0.005938	0.32398	N	0.139807	0.999139	0.21587	N	0.275	0.09989	N	6.51	0.00528	T	-0.89	0.24026	N	0.196	0.21580	-0.7950	0.55438	T	0.003	0.00994	T	10	0.007334709	0.00167	T	0.002489	0.04953	T	0.149	0.39377	0.553	0.66995	0.229264304666	0.22521	0.20188545842933694	0.20105	0.0139038463021	0.01327	0.244851380587	0.03245	T	0.00334	0.02748	T	-0.551576	0.00285	T	-0.560371	0.16341	T	0.113342172507575	0.13767	T	0.725927	0.34027	T	0.1423874	0.32769	0.10884087	0.26224	0.1423874	0.32769	0.10884087	0.26223	-5.254	0.39486	T	.	.	0.096	0.15341	B	.	.	2.746602	0.35986	20.1	0.94554103885418139	0.25073	0.16981	0.19636	N	AEFBI	0.094281	0.19065	N	0.0331195711879529	0.43367	2.630995	-0.0382379459116822	0.38003	2.232915	0.999069731505808	0.38343	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.42	4.42	0.52775	-0.102000	0.10926	.	.	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.769000	0.36481	0.6395:0.1837:0.0:0.1768	5.206	0.14616	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	4243.98	33	chr11	4449430	.	A	C	4243.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.93;DP=1004;ExcessHet=0.0000;FS=1.380;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.01;ReadPosRankSum=0.019;SOR=0.788	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1297	20	0	1	0
chr11	4450194	4450194	C	G	exonic	OR52K2	.	nonsynonymous SNV	OR52K2:NM_001005172:exon1:c.C855G:p.F285L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.048	B	0.078	B	0.000	D	0.587	N	-0.24	N	8.93	T	-1.167	T	0.000	T	0.183	0.744	7.948	2.26	0.406	-1.269	4.829	0.067	0.00371141193869	.	0.00139776	0.0009	0	0	0.0001	0	0	0	0.0068	0.0007827	121	154602	rs560337817	0.0005	0.0005	0.0002	0.0007	0.0071	0.0004	0.0004	0.0067	0.0065	0	0	0	2.519e-05	0	0	5.396e-06	0.0006	0.0071	0.0003	0.0003	0.0001	0.0004	0.0071	0.0002	0.0002	0.0052	0.0046	0	0	6.539e-05	0	0.0002	0	0	0	0.0014	0.0071	0.194	0.20835	T	0.354	0.17268	T	0.048	0.22112	B	0.078	0.28627	B	0.000104	0.50451	D	0.000000	0.587012	0.31052	N	0.175	0.09039	N	8.93	0.00024	T	0.72	0.02099	N	0.074	0.04790	-1.1670	0.00599	T	0.000	0.00075	T	10	0.006433785	0.00146	T	0.003711	0.08589	T	0.067	0.19503	0.299	0.26522	0.0986583533028	0.09354	0.033790001033653844	0.03326	0.00514138524058	0.00452	0.216945379972	0.01141	T	8.66E-4	0.00434	T	-0.643939	0.00079	T	-0.693745	0.06175	T	0.0233480878122097	0.01065	T	0.746525	0.36724	T	0.146451	0.33526	0.09203985	0.21669	0.146451	0.33525	0.09203985	0.21669	-3.685	0.19097	T	.	.	0.514	0.65221	A	.	.	0.637522	0.10061	6.809	0.97405322916670445	0.33795	0.09991	0.15617	N	AEFGBI	0.077683	0.15657	N	-0.841655886380633	0.12255	0.5962891	-0.758088027377505	0.15523	0.8168539	0.963572905986153	0.28700	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.16	2.26	0.27418	-1.135000	0.03337	.	.	0.535000	0.24933	0.002000	0.15269	0.000000	0.08366	0.248000	0.23210	0.0:0.5095:0.2862:0.2044	4.829	0.12793	877	0.30165	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2738.98	33	chr11	4450194	.	C	G	2738.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=1048;ExcessHet=0.0000;FS=2.311;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=0.218;SOR=0.874	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1297	20	0	1	0
chr11	4488904	4488904	C	T	exonic	OR52K1	.	nonsynonymous SNV	OR52K1:NM_001005171:exon2:c.C4T:p.L2F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.052	B	0.033	B	0.833	N	1.000	N	0.915	L	1.16	T	-0.999	T	0.037	T	0.164	-0.591	1.351	-8.76	-1.815	-4.083	0.705	0.045	0.0148460034166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.266e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.773	0.03354	T	0.779	0.04344	T	0.052	0.22494	B	0.033	0.22329	B	0.833192	0.06954	N	1.116690	0.999999	0.08975	N	0.635	0.15989	N	1.16	0.38073	T	-0.76	0.21215	N	0.071	0.04426	-0.9991	0.30171	T	0.037	0.15899	T	10	0.047613025	0.04102	T	0.014846	0.35231	T	0.045	0.12272	0.215	0.13498	0.0611884634855	0.05136	0.14371815121218293	0.14294	.	.	0.283620834351	0.08002	T	0.001751	0.01176	T	-0.288412	0.09796	T	-0.652061	0.08811	T	0.0666449882505786	0.08172	T	0.332567	0.07018	T	0.040492512	0.05791	0.03574162	0.02884	0.040492512	0.05790	0.03574162	0.02883	-4.337	0.28692	T	.	.	0.059	0.01059	B	.;.	.;.	-1.592832	0.00244	0.004	0.20019671462553745	0.00702	0.00621	0.02743	N	AEFBI	0.023867	0.01392	N	-1.71552709541866	0.00788	0.03404736	-1.84543066948755	0.00624	0.02775362	0.999441884986545	0.39736	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.38	-8.76	0.00718	-4.492000	0.00259	.	.	-0.811000	0.03066	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4067:0.2121:0.1944:0.1868	0.705	0.00856	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2	605.95	69	chr11	4488904	.	C	G,T	605.95	.	AC=5,3;AF=0.125,0.075;AN=40;BaseQRankSum=-2.135e+00;DP=2224;ExcessHet=3.5521;FS=176.401;InbreedingCoeff=-0.2568;MLEAC=5,3;MLEAF=0.125,0.075;MQ=60.00;MQRankSum=0.00;QD=0.71;ReadPosRankSum=0.714;SOR=12.957	GT:AD:DP:GQ:PL	0/1:40,26,13:79:91:114,0,498,91,435,622	12	0	5	1
chr11	4545230	4545230	T	-	exonic	OR52M1	.	frameshift deletion	OR52M1:NM_001004137:exon1:c.40delT:p.F14Sfs*32,	.	.	429	1053	39	1	0	41	0.0190964	.	.	3221646	OR52M1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0077	0.0181709	0.0084	0.0203	0.0027	0.0488	0	0.0005	0.0046	0.0211	0.001191	31	26028	rs77893620	0.0035	0.0035	0.0031	0.0040	0.0361	0.0035	0.0034	0.0345	0.0339	0.0230	0.0025	0.0002	0.0361	0	0.0064	0.0007	0.0077	0.0186	0.0091	0.0091	0.0088	0.0093	0.0445	0.0087	0.0085	0.0398	0.0380	0.0218	0	0.0052	0	0.0445	0	0	0.0006	0.0104	0.0214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	727.94	40	chr11	4545229	.	CT	C	727.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.992;DP=845;ExcessHet=0.0000;FS=2.049;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.45;ReadPosRankSum=0.797;SOR=1.066	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,109,1232	20	0	1	0
chr11	4653052	4653052	A	G	exonic	OR51E1	.	nonsynonymous SNV	OR51E1:NM_152430:exon2:c.A526G:p.I176V,	.	.	433	995	91	3	0	97	0.0464782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.140	N	1.000	N	-0.09	N	1.29	T	-0.987	T	0.033	T	0.053	-2.361	0.004	3.87	0.947	-0.412	5.953	0.095	.	0.0028	0.0115815	0.0098	0.0006	0.0034	0	0.0002	0.0041	0.0100	0.0547	0.0085704	1325	154602	rs61746313	0.0051	0.0051	0.0035	0.0068	0.0518	0.0050	0.0050	0.0505	0.0500	0.0005	0.0027	0.0085	0.0002	5.617e-05	0.0307	0.0019	0.0070	0.0518	0.0039	0.0039	0.0032	0.0046	0.0496	0.0036	0.0035	0.0445	0.0425	0.0005	0.0011	0.0058	0.0086	0.0004	0.0003	0.0136	0.0028	0.0057	0.0496	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.140478	0.18308	N	0.501168	1	0.08975	N	.	.	.	1.29	0.35775	T	0.38	0.03579	N	0.023	0.00407	-0.9871	0.33323	T	0.033	0.14029	T	10	0.001768142	0.00023	T	.	.	.	0.095	0.27398	.	.	0.0297737177859	0.01360	0.12332486038305565	0.12258	0.105741972977	0.11956	0.271344333887	0.06317	T	.	.	.	-0.722216	0.00027	T	-0.770713	0.02744	T	0.00988813361863609	0.00131	T	0.357364	0.08134	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.02894	B	.	.	0.262711	0.06410	2.879	0.16601044500135223	0.00451	0.05363	0.11223	N	AEFBI	0.114271	0.22514	N	-1.06097716116596	0.07374	0.3423423	-0.968385012516924	0.10500	0.5292187	0.00349446597818093	0.10145	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.98	3.87	0.43823	-0.128000	0.10508	.	.	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.739000	0.35404	0.7307:0.0:0.2692:0.0	5.953	0.18491	814	0.42100	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2326.98	97	chr11	4653052	.	A	G	2326.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.25;DP=2422;ExcessHet=0.0000;FS=1.079;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=2.17;SOR=0.617	GT:AD:DP:GQ:PL	0/0:130,0:130:99:0,120,1800	20	0	1	0
chr11	4653113	4653113	G	A	exonic	OR51E1	.	nonsynonymous SNV	OR51E1:NM_152430:exon2:c.G587A:p.R196Q,	.	.	434	1083	5	0	0	5	0.00230309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.807	P	0.572	P	0.487	N	1.000	N	1.6	L	1.18	T	-0.876	T	0.087	T	0.119	1.119	9.562	-2.56	-0.557	-2.797	11.137	0.091	0.0238691412862	0.0056	0.00179712	0.0048	0.0012	0.0016	0	0.0098	0.0067	0.0066	0.0019	0.0050517	781	154602	rs139501861	0.0070	0.0070	0.0071	0.0069	0.0081	0.0069	0.0069	0.0079	0.0079	0.0011	0.0013	0.0065	0.0001	0.0092	0.0019	0.0081	0.0059	0.0021	0.0049	0.0049	0.0045	0.0053	0.0078	0.0046	0.0045	0.0072	0.0070	0.0013	0	0.0014	0.0075	0.0002	0.0095	0	0.0078	0.0047	0.0021	0.057	0.37966	T	0.075	0.42794	T	.	.	.	.	.	.	0.487404	0.05016	N	1.290730	1	0.08975	N	.	.	.	1.18	0.37746	T	-1.78	0.42001	N	0.032	0.00825	-0.8764	0.50044	T	0.087	0.33718	T	10	0.0033911765	0.00059	T	0.023869	0.46847	T	0.091	0.26358	.	.	0.0482279557977	0.04254	0.2021599151461907	0.20132	0.167758860369	0.18912	0.169836565852	0.00031	T	.	.	.	-0.629209	0.00097	T	-0.667196	0.07789	T	0.0200415568951173	0.00705	T	0.589341	0.21633	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.21315	B	.	.	-0.029610	0.04083	0.955	0.94319171658207579	0.24644	0.07989	0.13970	N	AEFBI	0.207884	0.33401	N	-0.805004340397584	0.13182	0.6476195	-0.973158990064209	0.10390	0.523021	0.0013318333423527	0.08454	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.98	-2.56	0.05903	-3.777000	0.00415	.	.	-1.509000	0.01018	0.000000	0.06391	0.000000	0.08366	0.427000	0.27384	0.5891:0.0:0.4109:0.0	11.137	0.47604	814	0.42100	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2641.98	97	chr11	4653113	.	G	A	2641.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.62;DP=2426;ExcessHet=0.0000;FS=1.890;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.27;ReadPosRankSum=0.312;SOR=0.534	GT:AD:DP:GQ:PL	0/0:130,0:130:99:0,120,1800	20	0	1	0
chr11	4821609	4821609	A	G	exonic	OR51F2	.	nonsynonymous SNV	OR51F2:NM_001004753:exon1:c.A188G:p.Y63C,	.	.	436	1067	19	0	0	19	0.0088249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.013	B	0.027	B	0.224	U	1.000	N	3	M	4.04	T	-1.083	T	0.021	T	0.324	0.184	4.989	3.29	0.312	0.406	6.761	0.129	0.00422678405543	0.0012	0.00159744	0.0026	0.0006	0.0036	0	0	0.0023	0.0022	0.0070	0.0025291	391	154602	rs185898822	0.0023	0.0023	0.0020	0.0025	0.0229	0.0022	0.0022	0.0197	0.0185	0.0005	0.0041	0.0040	2.519e-05	0	0.0229	0.0018	0.0029	0.0076	0.0021	0.0021	0.0020	0.0023	0.0071	0.0020	0.0019	0.0052	0.0046	0.0005	0	0.0059	0.0035	0	0	0.0442	0.0021	0.0057	0.0071	.	.	.	.	.	.	0.013	0.16609	B	0.027	0.21085	B	0.224365	0.16063	U	0.455201	1	0.81001	D	2.045	0.56016	M	.	.	.	.	.	.	.	.	-1.0827	0.06833	T	0.021	0.09056	T	10	0.006897241	0.00157	T	0.004227	0.10216	T	0.129	0.35316	.	.	0.0297737177859	0.01360	0.27260243329221395	0.27173	0.00684574193027	0.00603	0.249014645815	0.03664	T	0.023906	0.18164	T	-0.529186	0.00388	T	-0.528491	0.19437	T	0.015908283942903	0.00376	T	0.668933	0.27772	T	0.5682851	0.70966	0.47584587	0.69627	0.5682851	0.70967	0.47584587	0.69627	-6.638	0.51342	T	.	.	0.096	0.15520	B	.;.	.;.	2.411576	0.30999	18.61	0.80908312501379798	0.13426	0.29076	0.23726	N	AEFBI	0.303737	0.41163	N	-0.795963792636158	0.13415	0.6606802	-0.803844750957531	0.14403	0.7523467	8.1743021512517E-5	0.04703	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.43	3.29	0.36801	1.013000	0.29540	.	.	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.493000	0.28859	0.7804:0.0:0.0831:0.1365	6.761	0.22727	799	0.44747	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2325.98	35	chr11	4821609	.	A	G	2325.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.89;DP=881;ExcessHet=0.0000;FS=1.796;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=-6.640e-01;SOR=0.571	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1174	20	0	1	0
chr11	4860278	4860278	A	G	exonic	OR51H1	.	nonsynonymous SNV	OR51H1:NM_001348291:exon2:c.T287C:p.F96S,	.	.	424	1082	15	1	0	17	0.00779459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	0.000	D	0.996	N	.	.	3.32	T	-1.098	T	0.027	T	0.825	1.520	11.03	3.86	2.110	1.942	9.978	0.222	.	.	0.00159744	0.0044	0.0010	0.0070	0	0.0080	0.0039	0.0144	0.0043	0.0011837	183	154602	rs186873226	0.0045	0.0023	0.0043	0.0045	0.0047	0.0043	0.0042	0.0044	0.0043	0.0013	0.0029	0.0024	0	0.0076	0.0032	0.0047	0.0053	0.0044	0.0033	0.0033	0.0033	0.0034	0.0046	0.0031	0.0030	0.0042	0.0040	0.0007	0	0.0035	0.0023	0.0002	0.0070	0	0.0046	0.0057	0.0044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2177.98	39	chr11	4860278	.	A	G	2177.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.079;DP=984;ExcessHet=0.0000;FS=1.964;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=1.07;SOR=0.858	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	20	0	1	0
chr11	4882085	4882085	T	G	exonic	OR51T1	.	stopgain	OR51T1:NM_001004759:exon1:c.T186G:p.Y62X,	.	.	0	224	2	0	0	2	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.002	N	1.000	D	.	.	.	.	.	.	.	.	.	2.804	15.34	1.36	0.461	0.497	7.583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1190211627	6.157e-06	6.156e-06	2.723e-06	9.626e-06	0.0003	2.9e-06	2.1e-06	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	5.396e-06	0	1.159e-05	6.574e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.002493	0.36462	N	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.116	0.10483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505247	0.94449	D	0.503462	0.94693	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	6.577893	0.95431	35	0.99209333249665266	0.55533	0.54801	0.29705	D	AEFDGBCIJ	0.382705	0.46449	N	0.0295762910108733	0.43204	2.617926	-0.224971901034509	0.30645	1.727183	0.999999992416393	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.4	1.36	0.21139	0.119000	0.15456	.	.	-0.186000	0.09761	0.004000	0.16614	0.942000	0.28804	0.966000	0.53164	0.0:0.6209:0.0:0.3791	7.583	0.27146	712	0.56465	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4691.98	33	chr11	4882085	.	T	G	4691.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.032e+00;DP=1061;ExcessHet=0.0000;FS=0.379;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=1.07;SOR=0.661	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1079	20	0	1	0
chr11	4882319	4882319	C	G	exonic	OR51T1	.	nonsynonymous SNV	OR51T1:NM_001004759:exon1:c.C420G:p.D140E,	.	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.625	P	0.266	B	0.358	N	1.000	N	1.29	L	-0.54	T	-0.898	T	0.203	T	0.113	0.352	5.908	0.671	0.230	0.024	5.178	0.066	.	7.7e-05	0.0119808	0.0065	0.0003	8.666e-05	0	0	0.0002	0.0022	0.0467	0.0056597	875	154602	rs201593644	0.0028	0.0028	0.0016	0.0041	0.0432	0.0028	0.0027	0.0421	0.0416	0.0003	4.473e-05	0	0	5.616e-05	0.0017	0.0002	0.0033	0.0432	0.0014	0.0014	0.0007	0.0022	0.0411	0.0013	0.0012	0.0364	0.0346	0.0002	0	6.544e-05	0	0	9.422e-05	0	7.352e-05	0.0009	0.0411	0.038	0.45393	D	0.08	0.41913	T	0.625	0.40054	P	0.266	0.39732	B	0.358110	0.13712	N	0.632296	0.999999	0.08975	N	0.22	0.09567	N	-0.54	0.70950	T	-0.97	0.25770	N	0.345	0.39153	-0.8979	0.48205	T	0.203	0.56073	T	10	0.0033245385	0.00057	T	.	.	.	0.066	0.19193	0.285	0.24280	0.74454767171	0.74225	0.20167101588067432	0.20084	0.0943424440058	0.10650	0.207728296518	0.00719	T	0.021368	0.16653	T	-0.557999	0.00261	T	-0.540722	0.18225	T	0.00846592890273572	0.00103	T	0.105489	0.00786	T	0.05107077	0.09324	0.05060691	0.07978	0.05107077	0.09324	0.05060691	0.07978	-4.753	0.34039	T	.	.	0.188	0.40522	B	.;.	.;.	1.093746	0.14775	11.32	0.94428552991827375	0.24840	0.19624	0.20733	N	AEFDGBHCI	0.126789	0.24388	N	-0.765780386195459	0.14209	0.7059149	-0.869977703578487	0.12809	0.660992	0.999999999784766	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.68	0.671	0.17097	-0.060000	0.11669	.	.	-0.341000	0.05685	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:0.528:0.1401:0.3319	5.178	0.14469	714	0.56256	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3097.98	33	chr11	4882319	.	C	G	3097.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.47;DP=922;ExcessHet=0.0000;FS=0.490;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=-1.578e+00;SOR=0.759	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1079	20	0	1	0
chr11	4882443	4882443	-	ACCACCCC	exonic	OR51T1	.	frameshift insertion	OR51T1:NM_001004759:exon1:c.544_545insACCACCCC:p.E185Tfs*5,	.	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0074	0.00219649	0.0065	0.0019	0.0020	0.0001	0.0044	0.0103	0.0088	0.0008	0.0011526	30	26028	rs564566592	0.0085	0.0086	0.0087	0.0084	0.0103	0.0084	0.0084	0.0102	0.0101	0.0015	0.0028	0.0055	2.52e-05	0.0049	0.0009	0.0103	0.0058	0.0008	0.0059	0.0059	0.0064	0.0054	0.0103	0.0056	0.0055	0.0096	0.0094	0.0015	0.0088	0.0044	0.0043	0.0002	0.0038	0	0.0103	0.0038	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4218.94	33	chr11	4882443	.	T	TACCACCCC	4218.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.160e-01;DP=954;ExcessHet=0.0000;FS=11.599;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.95;ReadPosRankSum=0.556;SOR=0.699	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1079	20	0	1	0
chr11	4915284	4915284	C	T	exonic	OR51G2	.	nonsynonymous SNV	OR51G2:NM_001005238:exon2:c.G380A:p.R127H,	.	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	D	1.000	D	3.5	M	-1.1	T	0.653	D	0.709	D	0.313	4.543	24.5	4.67	1.596	5.728	13.519	0.526	0.0621068750738	.	.	8.279e-05	0	0.0003	0.0002	0	4.511e-05	0	0.0001	6.47e-05	10	154602	rs778896766	8.483e-05	8.551e-05	8.169e-05	8.802e-05	0.0003	7.209e-05	6.797e-05	7.453e-05	6.914e-05	2.987e-05	0.0001	0	0.0001	0	0.0003	8.903e-05	0.0001	3.478e-05	4.605e-05	4.598e-05	5.142e-05	4.042e-05	0.0002	2.112e-05	1.528e-05	1.923e-05	1.033e-05	7.251e-05	0	0	0	0.0002	0	0	2.94e-05	0	0.0002	0.005	0.63226	D	0.009	0.66756	D	1.0	0.90584	D	0.998	0.88582	D	0.000090	0.51296	D	0.000000	1	0.81001	D	2.505	0.72935	M	-1.1	0.77336	T	-4.55	0.78553	D	0.724	0.72567	0.653	0.92584	D	0.709	0.90013	D	10	0.4689316	0.59742	T	0.062107	0.68546	D	0.526	0.79947	0.258	0.20002	0.892745899934	0.89168	0.7108784534621524	0.71029	0.0544899978002	0.06029	0.300095051527	0.10415	T	0.10247	0.41022	T	-0.183497	0.23217	T	-0.209208	0.53771	T	0.678558111190796	0.39722	D	0.758424	0.38228	T	0.71685696	0.78987	0.5779219	0.75542	0.71685696	0.78989	0.5779219	0.75543	-7.049	0.54390	T	.	.	0.159	0.41843	B	.;.	.;.	4.931606	0.81311	27.5	0.99937895182159198	0.99698	0.98680	0.85501	D	AEFBI	0.757591	0.69649	D	0.841049196706421	0.88590	9.636752	0.752326900444266	0.86328	8.854798	0.819324380811777	0.24495	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.58	4.67	0.58089	6.130000	0.71403	.	.	0.599000	0.40250	1.000000	0.71638	0.001000	0.17328	0.999000	0.91618	0.0:0.9247:0.0:0.0753	13.519	0.61016	748	0.52143	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2783.98	33	chr11	4915284	.	C	T	2783.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.382;DP=904;ExcessHet=0.0000;FS=4.759;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=-1.281e+00;SOR=1.002	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1327	20	0	1	0
chr11	4991416	4991416	G	A	exonic	MMP26	.	nonsynonymous SNV	MMP26:NM_001384608:exon6:c.G305A:p.G102D	.	.	432	1077	13	0	0	13	0.00599908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.992	D	0.913	D	0.568	U	0.882	N	1.58	L	1.87	T	-0.867	T	0.089	T	0.64	2.701	14.99	-1.05	-0.171	2.414	16.845	0.242	0.00308616990615	0.0012	0.000998403	0.0011	0.0002	0.0005	0	0	0.0016	0.0033	0.0012	0.0012031	186	154602	rs61751340	0.0019	0.0019	0.0018	0.0019	0.0073	0.0018	0.0018	0.0055	0.0049	0.0005	0.0011	0.0002	0	0.0001	0.0073	0.0021	0.0021	0.0016	0.0015	0.0015	0.0015	0.0016	0.0035	0.0014	0.0013	0.0028	0.0025	0.0002	0	0.0035	0.0003	0	0	0.0068	0.0023	0.0024	0.0012	0.002	0.72154	D	0.009	0.66756	D	0.992	0.64738	D	0.913	0.64886	D	0.568098	0.11267	U	0.703549	0.881752	0.28037	N	2.395	0.69210	M	1.87	0.24085	T	-2.74	0.58248	D	0.686	0.69213	-0.8671	0.50746	T	0.089	0.34216	T	10	0.08237243	0.13587	T	0.003086	0.06666	T	0.242	0.54781	.	.	0.514643173473	0.51105	0.8974688508151613	0.89717	0.439074860247	0.43930	0.418037742376	0.27567	T	0.105367	0.41577	T	-0.355208	0.04408	T	-0.289175	0.45860	T	0.0550311356782913	0.06362	T	0.90391	0.66280	D	0.53117436	0.68897	0.545215	0.73712	0.53117436	0.68899	0.545215	0.73712	-10.404	0.76294	D	.	.	0.790	0.76833	P	.;.	.;.	1.916864	0.24347	16.36	0.99376710343439423	0.61671	0.56347	0.30094	D	AEFGHCI	0.259253	0.37763	N	-0.139300102080008	0.35690	2.053319	-0.302931778888355	0.28005	1.558053	0.0325008055410044	0.14057	0.525926	0.21836	0	0.615948	0.52940	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	3.93	-1.05	0.09523	2.716000	0.46888	.	.	-0.168000	0.11412	0.990000	0.36992	0.000000	0.08366	0.327000	0.25133	0.0:0.8122:0.1878:0.0	16.845	0.85844	879	0.29470	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain;Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1156.98	33	chr11	4991416	.	G	A	1156.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.611;DP=830;ExcessHet=0.0000;FS=1.576;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=-5.420e-01;SOR=0.547	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1179	20	0	1	0
chr11	5058900	5058900	C	T	exonic	OR52E2	.	nonsynonymous SNV	OR52E2:NM_001005164:exon1:c.G728A:p.G243D,	.	.	431	1057	33	1	0	35	0.0162866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.884	P	0.548	P	0.068	N	0.631	D	3.945	H	1.17	T	-0.187	T	0.218	T	0.63	3.221	16.79	3.76	2.425	-0.626	11.431	0.151	.	0.0019	0.00359425	0.0031	0.0004	0.0027	0.0002	0.0002	0.0020	0.0024	0.0173	0.0030465	471	154602	rs142926662	0.0027	0.0027	0.0023	0.0031	0.0135	0.0027	0.0026	0.0128	0.0125	0.0003	0.0015	4.177e-05	2.526e-05	0.0004	0.0107	0.0023	0.0030	0.0135	0.0019	0.0019	0.0018	0.0020	0.0122	0.0017	0.0017	0.0097	0.0088	0.0002	0.0329	0.0009	0	0.0004	0.0007	0.0068	0.0024	0.0033	0.0122	0.003	0.68238	D	0.007	0.69154	D	0.884	0.48618	P	0.548	0.49136	P	0.068202	0.21688	N	0.391294	0.630676	0.32787	D	3.8	0.95404	H	1.17	0.37910	T	-5.92	0.88963	D	0.502	0.53445	-0.1869	0.78006	T	0.218	0.58007	T	10	0.009021401	0.00204	T	.	.	.	0.151	0.39764	.	.	0.533997809139	0.53049	0.32957873882277433	0.32870	0.0286310186413	0.02943	0.286349862814	0.08393	T	0.009034	0.08254	T	-0.363408	0.03940	T	-0.283756	0.46419	T	0.141014442345015	0.16362	T	0.691931	0.30130	T	0.9309848	0.94335	0.9099854	0.95687	0.9309848	0.94336	0.9099854	0.95688	-10.19	0.75041	D	.	.	0.263	0.49797	B	.	.	3.935583	0.57556	23.9	0.99795717101936576	0.88106	0.40739	0.26503	N	AEFDBI	0.198955	0.32578	N	0.341345517541059	0.58282	3.999755	0.189773147210407	0.49285	3.133606	2.2993399908392E-4	0.06048	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.76	3.76	0.42368	-0.747000	0.04929	.	.	0.585000	0.30472	0.000000	0.06391	0.000000	0.08366	0.903000	0.43903	0.0:0.816:0.184:0.0	11.431	0.49282	854	0.34840	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1912.98	84	chr11	5058900	.	C	T	1912.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.520e-01;DP=1949;ExcessHet=0.0000;FS=4.737;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=-1.721e+00;SOR=1.054	GT:AD:DP:GQ:PL	0/0:85,0:85:99:0,120,1800	20	0	1	0
chr11	5070094	5070094	C	T	exonic	OR52E1	.	unknown	UNKNOWN,	.	.	858	650	14	0	0	14	0.0106545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0076	0	0.0142	0	0.0046	0.0084	0	0.0299	0.0012807	198	154602	rs570789731	0.0028	0.0016	0.0028	0.0029	0.0135	0.0027	0.0026	0.0087	0.0072	0.0001	0.0011	0.0261	0	0.0007	0.0135	0.0022	0.0036	0.0068	0.0020	0.0020	0.0020	0.0020	0.0083	0.0018	0.0017	0.0063	0.0056	0.0005	0	0.0009	0.0213	0	0.0006	0.0136	0.0020	0.0047	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2733.98	39	chr11	5070094	.	C	T	2733.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.156e+00;DP=1414;ExcessHet=0.0000;FS=0.484;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=0.512;SOR=0.717	GT:AD:DP:GQ:PL	0/0:75,0:75:99:0,120,1800	20	0	1	0
chr11	5225678	5225678	C	G	exonic	HBB	.	nonsynonymous SNV	HBB:NM_000518:exon3:c.G364C:p.E122Q,	Delta-beta thalassemia, Autosomal dominant;Erythremias, beta- (3);Heinz body anemias, beta-, Autosomal dominant;Hereditary persistence of fetal hemoglobin, Autosomal dominant;Methemoglobinemias, beta- (3);Sickle cell anemia, Autosomal recessive;Thalassemia-beta, dominant inclusion-body;Thalassemias, beta-	YES	0	1497	24	1	0	26	0.00860927	.	.	30191	beta_Thalassemia|Hb_D-Los_Angeles|HBB-related_disorder|not_provided|Heinz_body_anemia|Hemoglobin_D_disease|Hb_SS_disease	MONDO:MONDO:0019402,MedGen:C0005283,Orphanet:848|.|MedGen:CN239378|MedGen:C3661900|Human_Phenotype_Ontology:HP:0005511,MONDO:MONDO:0007705,MedGen:C0700299,OMIM:140700,Orphanet:178330|MONDO:MONDO:0019537,MedGen:C0272080,Orphanet:90039|MONDO:MONDO:0011382,MedGen:C0002895,OMIM:603903,Orphanet:232	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.01	D	0.174	B	0.007	B	.	.	1.000	N	2.69	M	-3.36	D	0.285	D	0.784	D	0.896	1.164	9.736	4.68	2.589	4.047	15.475	0.575	0.23278745787	0.0002	0.000599042	0.0007	0	0.0003	0	0	0.0001	0.0022	0.0043	0.000608	94	154602	rs33946267	0.0005	0.0005	0.0003	0.0006	0.0051	0.0004	0.0004	0.0047	0.0045	5.974e-05	0.0001	0	0	0	0.0019	0.0002	0.0004	0.0051	0.0002	0.0002	0.0001	0.0003	0.0044	0.0002	0.0001	0.0029	0.0025	7.22e-05	0	0	0	0	0	0	0.0001	0	0.0044	0.006	0.61437	D	0.109	0.37449	T	0.174	0.28827	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	3.045	0.86684	M	-3.36	0.94067	D	-1.73	0.41046	N	0.509	0.54059	0.285	0.87314	D	0.784	0.92663	D	9	0.017982274	0.00387	T	0.232787	0.88337	D	0.575	0.82799	.	.	0.993264840891	0.99319	0.7264923966125129	0.72593	0.0337626008877	0.03542	0.372132986784	0.21138	T	0.027149	0.19941	T	0.0928782	0.63512	D	0.36159	0.90762	D	0.0634609066813779	0.07702	T	0.866213	0.56644	D	0.3287237	0.55366	0.21583228	0.46188	0.36926448	0.58531	0.18763994	0.42007	-8.299	0.63089	D	0.3426908369855942	0.44034	0.204	0.42877	B	.;.	.;.	3.065211	0.41183	21.3	0.97588656222229542	0.34780	0.90271	0.51315	D	AEFDGBHCI	0.869951	0.79071	D	-0.0666117936946236	0.38864	2.282815	-0.0677246373714052	0.36733	2.141517	0.99999999999992	0.74766	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	4.68	4.68	0.58319	4.942000	0.63247	.	.	0.599000	0.40250	0.984000	0.35821	0.903000	0.28003	0.060000	0.15972	0.0:1.0:0.0:0.0	15.475	0.75199	862	0.33134	Globin;Globin	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	779.98	33	chr11	5225678	.	C	G	779.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.200e-02;DP=778;ExcessHet=0.0000;FS=1.842;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.87;ReadPosRankSum=-1.921e+00;SOR=0.923	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1229	20	0	1	0
chr11	5342819	5342819	G	C	exonic	OR51B5	.	nonsynonymous SNV	OR51B5:NM_001005567:exon5:c.C706G:p.L236V,	.	.	436	1059	23	4	0	31	0.0144253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.968	D	0.177	N	1.000	N	2.755	M	8.65	T	-0.952	T	0.001	T	0.265	2.592	14.63	2.06	0.295	-0.539	7.043	0.130	0.00581998553089	0.0019	0.000599042	0.0025	0.0006	0.0012	0	0.0012	0.0026	0.0033	0.0063	0.002348	363	154602	rs140543559	0.0029	0.0029	0.0028	0.0029	0.0068	0.0028	0.0028	0.0064	0.0062	0.0003	0.0009	0.0007	2.519e-05	0.0012	0.0066	0.0030	0.0027	0.0068	0.0019	0.0019	0.0017	0.0021	0.0068	0.0017	0.0016	0.0050	0.0044	0.0005	0	0.0016	0.0009	0	0.0015	0.0068	0.0027	0.0024	0.0068	0.02	0.49613	D	0.018	0.59732	D	0.997	0.70673	D	0.968	0.71741	D	0.177258	0.17202	N	0.415917	1	0.81001	D	2.785	0.81254	M	8.65	0.00144	T	-2.53	0.54864	D	0.11	0.09631	-0.9521	0.40608	T	0.001	0.00438	T	10	0.005307317	0.00116	T	0.00582	0.15131	T	0.130	0.35528	.	.	0.274366138417	0.27033	0.022311389364349156	0.02183	0.0136984243272	0.01312	0.18676237762	0.00173	T	0.009763	0.08869	T	-0.56003	0.00254	T	-0.573635	0.15117	T	0.0331144742684216	0.02490	T	0.961004	0.85375	D	0.092088416	0.21594	0.17780884	0.40407	0.092088416	0.21594	0.17780884	0.40407	-6.222	0.48101	T	.	.	0.124	0.26010	B	.	.	1.331477	0.17365	13.12	0.99798359245562285	0.88372	0.44720	0.27380	N	AEFGBI	0.307269	0.41419	N	0.166970966708866	0.49619	3.16022	-0.00928002046424085	0.39294	2.327644	0.0308478271183786	0.13968	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.92	2.06	0.25932	-1.192000	0.03161	.	.	-0.742000	0.03659	0.000000	0.06391	0.000000	0.08366	0.086000	0.17578	0.4306:0.0:0.5694:0.0	7.043	0.24212	870	0.31527	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1198.98	34	chr11	5342819	.	G	C	1198.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.000e-03;DP=852;ExcessHet=0.0000;FS=0.639;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.69;ReadPosRankSum=-4.230e-01;SOR=0.718	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1401	20	0	1	0
chr11	5351792	5351792	C	G	exonic	OR51B6	.	nonsynonymous SNV	OR51B6:NM_001004750:exon1:c.C285G:p.C95W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.72	H	6.65	T	-1.162	T	0.013	T	0.859	0.989	9.038	2.16	0.307	0.075	8.371	0.313	0.0559336047313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0093	0.0026	0.0022	0.0029	0.0023	0.0023	0.0028	0.0028	0.0027	6.717e-05	0.0009	0.0002	1.873e-05	0.0012	0.0029	0.0019	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000016	0.62929	D	0.000000	1	0.81001	D	4.81	0.99662	H	6.65	0.00510	T	-10.89	0.99244	D	0.807	0.80278	-1.1620	0.00709	T	0.013	0.05033	T	10	0.9621227	0.95635	D	0.055934	0.66418	D	0.313	0.63482	0.748	0.87905	0.527045900269	0.52351	0.471107557204946	0.47029	0.0116871865332	0.01096	0.339552879333	0.16371	T	0.119847	0.44167	T	0.113068	0.65668	D	-0.0753619	0.65240	T	0.99993371963501	0.99782	D	0.909809	0.68064	D	0.97552437	0.98751	0.92103964	0.96471	0.97552437	0.98751	0.92103964	0.96472	-8.765	0.66172	D	.	.	0.343	0.56118	A	.	.	2.116618	0.26937	17.29	0.98967027029080845	0.49442	0.39672	0.26265	N	AEFBI	0.767818	0.70356	D	0.108662788856825	0.46867	2.920579	-0.159160573312792	0.33057	1.887009	0.0102554648337644	0.11993	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.01	2.16	0.26663	-0.170000	0.09886	.	.	-1.712000	0.00741	0.001000	0.13787	0.000000	0.08366	0.014000	0.10232	0.0:0.6705:0.0:0.3295	8.371	0.31576	861	0.33516	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3438	1921.6	129	chr11	5351792	.	C	G	1921.6	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-4.528e+00;DP=3508;ExcessHet=7.7275;FS=256.706;InbreedingCoeff=-0.4658;MLEAC=13;MLEAF=0.406;MQ=60.00;MQRankSum=0.00;QD=1.01;ReadPosRankSum=0.281;SOR=11.086	GT:AD:DP:GQ:PL	0/1:139,32:171:99:363,0,4656	5	0	11	5
chr11	5440733	5440733	G	A	exonic	OR51I1	.	nonsynonymous SNV	OR51I1:NM_001005288:exon1:c.C782T:p.S261F,	.	.	429	1086	7	0	0	7	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.998	D	0.001	N	0.660	N	1.565	L	8.72	T	-0.714	T	0.001	T	0.146	2.945	15.82	5.47	2.593	1.741	12.485	0.147	.	0.0056	0.00519169	0.0016	0.0163	0.0005	0	0	5.997e-05	0.0033	0.0004	0.0014877	230	154602	rs61737027	0.0005	0.0005	0.0006	0.0005	0.0182	0.0005	0.0005	0.0170	0.0166	0.0182	0.0006	0	0	0	0.0002	2.069e-05	0.0010	0.0004	0.0049	0.0049	0.0049	0.0050	0.0175	0.0046	0.0045	0.0164	0.0160	0.0175	0	0.0008	0	0	0	0.0034	1.47e-05	0.0033	0.0010	0.0	0.91255	D	0.141	0.33442	T	0.999	0.77913	D	0.998	0.88582	D	0.001112	0.40219	N	0.113088	0.66032	0.30455	N	1.555	0.39373	L	8.72	0.00098	T	-5.39	0.85027	D	0.225	0.25253	-0.7136	0.59776	T	0.001	0.00222	T	10	0.004553467	0.00094	T	.	.	.	0.147	0.38986	.	.	0.346085882481	0.34212	0.24759915096614962	0.24673	0.0110850897619	0.01030	0.293880045414	0.09492	T	0.009705	0.08820	T	-0.560484	0.00252	T	-0.562937	0.16103	T	0.0553529289853593	0.06416	T	0.865313	0.56401	D	0.6611537	0.75960	0.6930597	0.81933	0.6611537	0.75962	0.6930597	0.81934	-8.643	0.65372	D	.	.	0.515	0.65243	A	.	.	4.159961	0.62465	24.5	0.99797212163985238	0.88194	0.18773	0.20396	N	AEFGBHCI	0.074164	0.14857	N	0.399713973490191	0.61406	4.341359	0.34801675693454	0.58389	4.009034	0.936566312919239	0.27260	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.584449	0.35598	0	.	.	5.47	5.47	0.80345	1.564000	0.35983	.	.	0.650000	0.52971	0.008000	0.17931	0.834000	0.27239	0.205000	0.22041	0.081:0.0:0.919:0.0	12.485	0.55207	680	0.59965	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2385.98	33	chr11	5440733	.	G	A	2385.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=1085;ExcessHet=0.0000;FS=1.939;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.55;ReadPosRankSum=1.21;SOR=0.593	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1140	20	0	1	0
chr11	5441176	5441176	C	-	exonic	OR51I1	.	frameshift deletion	OR51I1:NM_001005288:exon1:c.339delG:p.E113Dfs*8,	.	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0003	0	0	0	0	0.0002	0	0.0012	0.000207	32	154602	rs751969340	0.0002	0.0002	0.0001	0.0002	0.0013	0.0001	0.0001	0.0011	0.0011	0	0	0.0017	0	0	0.0010	4.227e-05	0.0002	0.0013	7.887e-05	7.88e-05	2.57e-05	0.0001	0.0008	4.498e-05	3.513e-05	0.0003	0.0002	0	0	0	0.0012	0	0	0	5.88e-05	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2607.94	120	chr11	5441175	.	AC	A	2607.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.115;DP=1653;ExcessHet=0.0000;FS=0.602;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.39;ReadPosRankSum=-1.583e+00;SOR=0.632	GT:AD:DP:GQ:PL	0/0:142,0:142:99:0,120,1800	20	0	1	0
chr11	5454368	5454368	G	A	exonic	OR51I2	.	nonsynonymous SNV	OR51I2:NM_001004754:exon1:c.G880A:p.A294T,	.	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.008	B	0.003	B	0.003	N	0.984	N	1.7	L	1.22	T	-1.012	T	0.057	T	0.218	0.713	7.797	3.61	0.885	-0.679	7.716	0.059	0.0110459718147	0.0058	0.00259585	0.0053	0.0012	0.0023	0.0003	0.0051	0.0080	0.0033	0.0019	0.005194	803	154602	rs139102367	0.0068	0.0068	0.0070	0.0066	0.0133	0.0067	0.0066	0.0109	0.0101	0.0013	0.0029	0.0002	0.0013	0.0058	0.0133	0.0079	0.0065	0.0022	0.0054	0.0054	0.0057	0.0051	0.0081	0.0051	0.0050	0.0075	0.0073	0.0018	0	0.0080	0	0.0006	0.0043	0.0136	0.0081	0.0066	0.0017	0.018	0.50676	D	0.01	0.65728	D	0.008	0.14655	B	0.003	0.08700	B	0.002895	0.35770	N	0.197073	0.983774	0.40057	D	1.27	0.32069	L	1.22	0.37052	T	-0.1	0.08495	N	0.174	0.18649	-1.0122	0.26228	T	0.057	0.24130	T	10	0.0054678023	0.00121	T	0.011046	0.28270	T	0.059	0.16972	.	.	0.202086224978	0.19791	0.05591651426033309	0.05532	0.0085942019034	0.00777	0.201415508986	0.00499	T	0.00103	0.00564	T	-0.5777	0.00199	T	-0.595353	0.13205	T	0.00633887358148472	0.00070	T	0.649435	0.26018	T	0.087157644	0.20285	0.19217558	0.42717	0.087157644	0.20285	0.19217558	0.42716	-4.455	0.30296	T	.	.	0.098	0.16319	B	.;.	.;.	1.943272	0.24685	16.49	0.90722555318189568	0.19972	0.29547	0.23850	N	AEFBCI	0.249450	0.36968	N	-0.832554428285813	0.12483	0.608775	-0.772966009526977	0.15159	0.7958556	0.963517943279825	0.28696	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.45	3.61	0.40494	-1.068000	0.03558	.	.	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.249:0.0:0.751:0.0	7.716	0.27872	697	0.58201	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2402.98	36	chr11	5454368	.	G	A	2402.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.650e+00;DP=1122;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.74;ReadPosRankSum=1.05;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485	20	0	1	0
chr11	5489547	5489547	G	A	exonic	OR52D1	.	nonsynonymous SNV	OR52D1:NM_001005163:exon1:c.G841A:p.A281T,	.	.	417	1101	4	0	0	4	0.00181324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.69	M	8.66	T	-0.800	T	0.002	T	0.215	3.903	19.85	4.67	1.600	3.320	13.43	0.251	0.00711082758734	.	.	8.25e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs780455004	1.368e-06	1.368e-06	0	2.75e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000004	0.62929	D	0.000000	1	0.81001	D	2.72	0.79541	M	8.66	0.00139	T	-3.79	0.71639	D	0.166	0.17553	-0.7998	0.55156	T	0.002	0.00526	T	10	0.37731084	0.53929	T	0.007111	0.18841	T	0.251	0.56024	0.642	0.77903	0.305730143919	0.30178	0.1498105945690951	0.14903	0.0165560097455	0.01597	0.387519180775	0.23320	T	0.012121	0.10705	T	-0.177165	0.24159	T	-0.492262	0.23155	T	0.99024498462677	0.80461	D	0.818818	0.47619	T	0.7569237	0.81272	0.7509594	0.85279	0.7569237	0.81273	0.7509594	0.85280	-9.819	0.72821	D	.	.	0.548	0.66687	A	.	.	4.893662	0.80374	27.3	0.99925242222338917	0.99042	0.92355	0.55520	D	AEFGBHCI	0.151340	0.27581	N	0.685314936935146	0.78670	6.918579	0.623533475095708	0.76652	6.530744	0.999998342259737	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.58	4.67	0.58089	2.957000	0.48830	.	.	0.676000	0.76740	0.994000	0.38300	0.266000	0.24016	0.985000	0.61073	0.0756:0.0:0.9244:0.0	13.43	0.60498	696	0.58299	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2041.98	51	chr11	5489547	.	G	A	2041.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.761e+00;DP=1254;ExcessHet=0.0000;FS=2.409;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.01;ReadPosRankSum=0.084;SOR=0.537	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1575	20	0	1	0
chr11	5507629	5507629	C	T	exonic	UBQLN3	.	nonsynonymous SNV	UBQLN3:NM_001347096:exon2:c.G1930A:p.D644N	.	.	436	1079	7	0	0	7	0.00323326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.634	P	0.2	B	0.002	N	1.000	D	0.95	L	2.25	T	-1.029	T	0.030	T	0.102	2.909	15.69	3.27	0.867	2.464	10.955	0.090	.	.	0.00838658	0.0048	9.789e-05	0.0008	0	0	9.133e-05	0.0034	0.0362	0.0040426	625	154602	rs200545596	0.0021	0.0021	0.0012	0.0031	0.0335	0.0021	0.0021	0.0325	0.0321	0.0002	0.0001	0	7.56e-05	0	0.0005	5.94e-05	0.0026	0.0335	0.0013	0.0013	0.0007	0.0019	0.0378	0.0011	0.0011	0.0333	0.0316	4.812e-05	0	0	0	0	9.42e-05	0	8.82e-05	0.0005	0.0378	0.026	0.46910	D	0.04	0.50809	D	0.634	0.40281	P	0.2	0.36839	B	0.002457	0.36537	N	0.122533	1	0.81001	D	0.41	0.12415	N	2.25	0.17761	T	-4.28	0.76334	D	0.244	0.27554	-1.0293	0.20681	T	0.030	0.13023	T	10	0.0070008636	0.00159	T	.	.	.	0.090	0.26093	.	.	0.365509141856	0.36162	0.49459139867246676	0.49380	0.0211555233201	0.02094	0.398621231318	0.24877	T	0.025852	0.19251	T	-0.634952	0.00089	T	-0.659079	0.08329	T	0.0755802667233008	0.09413	T	0.988501	0.96026	D	0.13215485	0.30781	0.13410978	0.32144	0.13215485	0.30781	0.13410978	0.32143	-4.002	0.23834	T	.	.	0.097	0.15698	B	.	.	2.280723	0.29163	18.03	0.99810393216649662	0.89442	0.80349	0.40010	D	AEFBCI	0.332261	0.43173	N	-0.212619518028817	0.32616	1.841296	-0.218118232080288	0.30887	1.742984	0.999998539221495	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.14	3.27	0.36580	2.818000	0.47741	.	.	-0.190000	0.09434	0.988000	0.36536	0.546000	0.25442	0.033000	0.13494	0.0:0.8797:0.0:0.1203	10.955	0.46564	682	0.59757	Ubiquitin-associated domain|Ubiquitin-associated domain|Ubiquitin-associated domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1757.98	36	chr11	5507629	.	C	T	1757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.82;DP=846;ExcessHet=0.0000;FS=2.224;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=0.896;SOR=0.496	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1158	20	0	1	0
chr11	5509473	5509473	G	A	exonic	UBQLN3	.	nonsynonymous SNV	UBQLN3:NM_001347096:exon2:c.C86T:p.P29L	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.001	B	0.093	B	0.000	D	1.000	D	2.47	M	-0.43	T	-0.478	T	0.337	T	0.493	2.445	14.14	5.49	2.749	3.311	15.227	0.327	0.0315030335319	7.7e-05	.	9.885e-05	0	0	0	0	4.496e-05	0.0011	0.0005	8.41e-05	13	154602	rs375258780	4.446e-05	4.446e-05	2.859e-05	6.05e-05	0.0005	3.575e-05	3.257e-05	0.0002	0.0002	0	0	0	0	0	0.0005	2.698e-05	4.967e-05	0.0003	4.599e-05	4.596e-05	2.569e-05	6.724e-05	0.0010	2.109e-05	1.527e-05	0.0004	0.0003	0	0	0	0	0	0	0	2.94e-05	0	0.0010	0.012	0.56456	D	0.002	0.83351	D	0.001	0.07471	B	0.093	0.30104	B	0.000190	0.48115	D	0.000000	1	0.81001	D	2.29	0.65257	M	-0.43	0.69657	T	-7.83	0.97547	D	0.298	0.33687	-0.4784	0.69426	T	0.337	0.70330	T	10	0.34389293	0.51393	T	0.031503	0.53573	D	0.327	0.64926	.	.	0.879018207682	0.87783	0.2868595301879391	0.28598	0.0456341534263	0.04953	0.703867614269	0.67704	T	0.035773	0.23847	T	-0.2142	0.18791	T	-0.223494	0.52398	T	0.418175458908081	0.29623	T	0.882812	0.60417	D	0.6342462	0.74525	0.5789099	0.75597	0.6342462	0.74526	0.5789099	0.75598	-6.149	0.47509	T	.	.	0.224	0.63792	B	.;.	.;.	4.030661	0.59597	24.1	0.98981043959082082	0.49740	0.77375	0.38036	D	AEFBI	0.382971	0.46465	N	0.168458016910446	0.49689	3.166461	0.298935543740328	0.55478	3.710744	0.99999996858032	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	5.49	0.81022	2.295000	0.43236	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.940000	0.48062	0.0:0.0:1.0:0.0	15.227	0.73050	668	0.61153	Ubiquitin domain|Ubiquitin domain|Ubiquitin domain;Ubiquitin domain|Ubiquitin domain|Ubiquitin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1909.98	39	chr11	5509473	.	G	A	1909.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.14;DP=988;ExcessHet=0.0000;FS=1.249;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=-3.204e+00;SOR=0.846	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr11	5515156	5515156	A	T	exonic	UBQLNL	.	nonsynonymous SNV	UBQLNL:NM_145053:exon1:c.T1286A:p.M429K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.981	D	0.69	P	0.206	N	1.000	D	2.11	M	0.19	T	-0.413	T	0.271	T	0.77	2.500	14.32	5.3	2.203	3.092	11.551	0.366	0.0132203811705	.	.	2.471e-05	0	0	0	0	4.495e-05	0	0	1.94e-05	3	154602	rs147713756	1.915e-05	1.915e-05	2.042e-05	1.788e-05	2.987e-05	1.328e-05	1.144e-05	1.543e-05	1.304e-05	2.987e-05	0	0	0	0	0	2.248e-05	3.311e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	0.981	0.59675	D	0.69	0.53781	P	0.206353	0.16473	N	0.582587	1	0.81001	D	0.975	0.24501	L	0.19	0.60236	T	-4.3	0.76496	D	0.69	0.69562	-0.4126	0.71627	T	0.271	0.64277	T	10	0.86441267	0.85678	D	0.01322	0.32452	T	0.366	0.68582	0.697	0.83406	0.546521485473	0.54306	0.4645939818431114	0.46378	0.04939066039	0.05411	0.399436503649	0.24989	T	0.133972	0.46496	T	0.0533928	0.58778	T	-0.0534243	0.66788	D	0.838354587554932	0.49193	D	0.426357	0.11459	T	0.858052	0.87938	0.8603351	0.92202	0.858052	0.87940	0.8603351	0.92202	-4.708	0.33501	T	.	.	0.291	0.52227	B	.	.	3.719795	0.53147	23.3	0.97539328728759933	0.34501	0.51869	0.28997	D	AEFBI	0.252153	0.37189	N	0.27347717007461	0.54807	3.645605	0.189308229482868	0.49261	3.131358	0.99882067875289	0.37755	0.553676	0.25195	0	0.610034	0.51514	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.3	5.3	0.74745	4.837000	0.62487	.	.	0.756000	0.94297	0.522000	0.27127	0.846000	0.27345	0.590000	0.31140	1.0:0.0:0.0:0.0	11.551	0.49974	692	0.58729	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1114.98	39	chr11	5515156	.	A	T	1114.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.97;DP=819;ExcessHet=0.0000;FS=1.560;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.87;ReadPosRankSum=0.878;SOR=0.540	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1049	20	0	1	0
chr11	5544799	5544799	C	T	exonic	OR52H1	.	nonsynonymous SNV	OR52H1:NM_001005289:exon1:c.G725A:p.C242Y,	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.005	B	0.063	B	0.013	N	1.000	N	1.495	L	8.76	T	-0.953	T	0.000	T	0.041	-0.596	1.335	1.22	0.210	-0.180	4.499	0.026	0.00243794738054	.	.	3.297e-05	9.615e-05	8.651e-05	0	0	0	0	0.0001	2.59e-05	4	154602	rs776567541	2.668e-05	2.736e-05	2.314e-05	3.025e-05	0.0005	1.997e-05	1.754e-05	0.0003	0.0002	0.0005	4.472e-05	0	5.038e-05	0	0.0002	6.295e-06	0.0001	4.637e-05	4.604e-05	4.598e-05	5.143e-05	4.04e-05	0.0001	2.111e-05	1.528e-05	4.746e-05	3.058e-05	0.0001	0	6.551e-05	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	0.005	0.12996	B	0.063	0.27082	B	0.013441	0.28844	N	0.302543	1	0.08975	N	1.15	0.29295	L	.	.	.	.	.	.	.	.	-0.9533	0.40398	T	0.000	0.00152	T	10	0.05934915	0.07121	T	0.002438	0.04813	T	0.026	0.05648	0.361	0.36548	0.187945064343	0.18414	0.43170759477783643	0.43087	0.0211720181256	0.02094	0.177383169532	0.00072	T	1.4E-4	0.00020	T	-0.521307	0.00432	T	-0.749929	0.03488	T	0.147096455097198	0.16870	T	0.686731	0.29555	T	0.2583692	0.48886	0.20895676	0.45220	0.2583692	0.48886	0.20895676	0.45219	-5.875	0.45221	T	.	.	0.073	0.05188	B	.;.	.;.	0.815589	0.11866	8.433	0.57637635142240695	0.05813	0.09970	0.15602	N	AEFI	0.118630	0.23189	N	-1.07791310988197	0.07051	0.3264511	-1.11298073729716	0.07452	0.3625068	7.62031097096935E-4	0.07776	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.22	1.22	0.20300	0.343000	0.19686	.	.	-0.930000	0.02149	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.284:0.5057:0.0:0.2103	4.499	0.11264	705	0.57330	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2871.98	33	chr11	5544799	.	C	T	2871.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.727;DP=1157;ExcessHet=0.0000;FS=2.522;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.88;ReadPosRankSum=-7.920e-01;SOR=0.913	GT:AD:DP:GQ:PL	0/0:155,0:155:99:0,120,1800	20	0	1	0
chr11	5545231	5545231	C	T	exonic	OR52H1	.	nonsynonymous SNV	OR52H1:NM_001005289:exon1:c.G293A:p.R98H,	.	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.941	P	0.557	P	0.738	N	1.000	N	1.14	L	1.16	T	-1.019	T	0.077	T	0.184	0.867	8.514	-0.208	-0.079	-2.743	6.163	0.100	.	.	.	0.0021	0	0.0002	0	0	3.32e-05	0	0.0140	3.84e-05	1	26028	rs201548701	0.0008	0.0008	0.0004	0.0013	0.0134	0.0008	0.0008	0.0128	0.0125	0.0001	0.0002	3.829e-05	5.076e-05	0	0.0005	8.998e-06	0.0008	0.0134	0.0006	0.0006	0.0004	0.0007	0.0139	0.0005	0.0004	0.0112	0.0103	9.63e-05	0	0.0008	0	0	0	0	1.47e-05	0.0005	0.0139	.	.	.	.	.	.	0.941	0.52883	P	0.557	0.49454	P	0.738441	0.06413	N	1.142310	1	0.08975	N	1.045	0.26769	L	.	.	.	.	.	.	.	.	-1.0194	0.23910	T	0.077	0.30767	T	10	0.004951805	0.00106	T	.	.	.	0.100	0.28662	.	.	0.345405024496	0.34151	0.10959946312795883	0.10888	0.0176181546198	0.01715	0.208594575524	0.00753	T	0.001772	0.01195	T	-0.267747	0.12010	T	-0.622377	0.11000	T	0.0173606778154766	0.00475	T	0.59464	0.22023	T	0.055836964	0.10906	0.046422653	0.06466	0.055836964	0.10905	0.046422653	0.06466	-3.331	0.14139	T	.	.	0.086	0.10545	B	.;.	.;.	0.425096	0.07954	4.667	0.98924431347046227	0.48620	0.02119	0.06263	N	AEFI	0.061760	0.11828	N	-0.616633353180256	0.18444	0.9576329	-0.762019256346626	0.15427	0.8113195	5.51231196832017E-4	0.07304	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.56	-0.208	0.12536	-2.524000	0.01024	.	.	0.592000	0.32167	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.0:0.3439:0.1371:0.519	6.163	0.19592	706	0.57215	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2346.98	151	chr11	5545231	.	C	T	2346.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=2992;ExcessHet=0.0000;FS=1.231;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.49;ReadPosRankSum=-5.880e-01;SOR=0.846	GT:AD:DP:GQ:PL	0/0:153,0:153:99:0,120,1800	20	0	1	0
chr11	5545521	5545521	C	A	exonic	OR52H1	.	startloss	OR52H1:NM_001005289:exon1:c.G3T:p.M1?,	.	.	439	1058	22	3	0	28	0.0130597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.0	B	0.0	B	.	.	1.000	N	.	.	6.92	T	-0.970	T	0.001	T	0.216	1.456	10.81	3.56	2.241	-0.160	9.590	0.155	.	0.0048	0.00239617	0.0058	0.0004	0.0014	0	0.0024	0.0074	0.0068	0.0102	0.0055045	851	154602	rs114189564	0.0058	0.0058	0.0055	0.0061	0.0098	0.0057	0.0056	0.0093	0.0090	0.0005	0.0021	0.0043	0	0.0027	0.0066	0.0062	0.0052	0.0098	0.0048	0.0048	0.0048	0.0048	0.0104	0.0045	0.0044	0.0081	0.0073	0.0009	0	0.0033	0.0063	0	0.0018	0.0068	0.0079	0.0052	0.0104	.	.	.	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999955	0.19072	N	.	.	.	.	.	.	.	.	.	.	.	-0.9700	0.37200	T	0.001	0.00222	T	8	0.00760895	0.00173	T	.	.	.	.	.	0.97	0.99714	.	.	0.28708759228968594	0.28621	.	.	.	.	.	9.5E-4	0.00501	T	-0.628903	0.00097	T	-0.66819	0.07725	T	0.0047659346481068	0.00051	T	0.9	0.65058	D	0.26301256	0.49364	0.15860966	0.37032	0.26301256	0.49364	0.15860966	0.37031	-4.336	0.28678	T	.	.	.	.	.	.	.	0.716324	0.10854	7.530	0.78914939039443543	0.12508	0.10909	0.16277	N	AEFI	0.016768	0.00398	N	-0.754020979868623	0.14523	0.7242117	-0.760954450844543	0.15454	0.8128204	0.00816682051246733	0.11623	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.55	3.56	0.39892	-0.588000	0.05867	.	.	0.592000	0.32167	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.7209:0.2791:0.0	9.590	0.38704	710	0.56735	.	.	.	.	.	rs114189564	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	747.98	41	chr11	5545521	.	C	A	747.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.195e+00;DP=842;ExcessHet=0.0000;FS=1.185;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.36;ReadPosRankSum=0.476;SOR=0.473	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1620	20	0	1	0
chr11	5581297	5581297	C	T	exonic	OR52B6	.	nonsynonymous SNV	OR52B6:NM_001005162:exon1:c.C421T:p.R141C,	.	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.852	P	0.001	U	1.000	D	3.245	M	-1.09	T	0.197	D	0.465	T	0.287	3.489	17.84	4.22	1.367	0.070	12.944	0.401	.	0.0084	0.00698882	0.0024	0.0251	0.0015	0	0	0.0003	0	0	0.0022703	351	154602	rs114791744	0.0010	0.0010	0.0011	0.0009	0.0265	0.0009	0.0009	0.0251	0.0245	0.0265	0.0014	0.0004	2.519e-05	0	0.0031	0.0003	0.0022	1.16e-05	0.0076	0.0076	0.0081	0.0071	0.0260	0.0072	0.0071	0.0247	0.0242	0.0260	0	0.0026	0.0006	0	0	0.0034	0.0003	0.0038	0	0.007	0.59928	D	0.018	0.59732	D	0.999	0.77913	D	0.852	0.60758	P	0.001137	0.40136	U	0.000000	1	0.81001	D	2.5	0.72771	M	-1.09	0.77206	T	-7.75	0.95789	D	0.099	0.08088	0.197	0.85854	D	0.465	0.79345	T	10	0.009898633	0.00222	T	.	.	.	0.401	0.71479	.	.	0.8773146778	0.87611	0.5331956018731141	0.53244	0.0254043274005	0.02595	0.178682416677	0.00082	T	0.10925	0.42297	T	-0.398402	0.02372	T	-0.324781	0.42047	T	0.0594760992103871	0.07085	T	0.784922	0.42251	T	0.5162322	0.68042	0.40681246	0.65044	0.5162322	0.68043	0.40681246	0.65044	-5.179	0.38728	T	.	.	0.105	0.19154	B	.	.	3.065329	0.41183	21.3	0.99922997760709686	0.98852	0.46707	0.27820	N	AEFDGBHCI	0.262941	0.38058	N	0.373680192546072	0.60000	4.184376	0.235251744959151	0.51814	3.360812	0.862229570220504	0.25248	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.15	4.22	0.49153	-0.057000	0.11726	.	.	-0.201000	0.08892	0.001000	0.13787	0.000000	0.08366	0.722000	0.34836	0.0:0.9199:0.0:0.08	12.944	0.57759	793	0.45818	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2218.98	137	chr11	5581297	.	C	T	2218.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.13;DP=2913;ExcessHet=0.0000;FS=0.555;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=-1.147e+00;SOR=0.645	GT:AD:DP:GQ:PL	0/0:210,0:210:99:0,120,1800	20	0	1	0
chr11	5603391	5603391	A	T	exonic	TRIM6;TRIM6-TRIM34	.	nonsynonymous SNV	TRIM6:NM_001003818:exon2:c.A163T:p.S55C	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	N	0.95	L	2.86	T	-1.088	T	0.052	T	0.563	3.450	17.68	4.39	2.198	0.889	12.232	0.190	0.0173800733463	.	.	0.0002	0.0003	8.64e-05	0	0	0.0002	0	6.056e-05	3.84e-05	1	26028	rs142243294	0.0007	0.0007	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0008	8.961e-05	6.708e-05	3.826e-05	0	0	0.0002	0.0008	0.0005	4.637e-05	0.0004	0.0004	0.0004	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	0.0001	0	0.0003	0	0	0	0	0.0007	0.0005	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	2.175	0.60977	M	2.86	0.10482	T	-4.37	0.77717	D	0.691	0.71143	-1.0883	0.05821	T	0.052	0.22153	T	9	0.65066636	0.69584	D	0.01738	0.39055	T	0.190	0.46781	.	.	0.522664700966	0.51911	0.3168963046337906	0.31602	0.215671624619	0.31248	0.424962103367	0.28519	T	0.013389	0.11587	T	-0.323881	0.06586	T	-0.370945	0.36778	T	0.38995024561882	0.28562	T	0.965403	0.87236	D	0.45229024	0.64186	0.35049674	0.60658	0.45229024	0.64186	0.35049674	0.60658	-10.54	0.77624	D	.	.	0.286	0.56311	B	.;.;.;.;.	.;.;.;.;.	3.839464	0.55545	23.6	0.98989206598917057	0.49902	0.28153	0.23475	N	AEFBI	0.144433	0.26739	N	0.226545903980337	0.52488	3.422706	0.162254263951256	0.47794	3.004405	0.999639907107293	0.41205	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	4.39	4.39	0.52211	0.461000	0.21651	.	.	0.756000	0.94297	0.000000	0.06391	1.000000	0.68203	0.648000	0.32638	1.0:0.0:0.0:0.0	12.232	0.53805	809	0.43032	RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type;RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type;.;RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type;RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2521.98	33	chr11	5603391	.	A	T	2521.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=890;ExcessHet=0.0000;FS=0.556;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.34;ReadPosRankSum=-1.707e+00;SOR=0.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1307	20	0	1	0
chr11	5603392	5603392	G	T	exonic	TRIM6;TRIM6-TRIM34	.	nonsynonymous SNV	TRIM6:NM_001003818:exon2:c.G164T:p.S55I	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.999	D	.	.	1.000	N	-0.145	N	2.89	T	-1.021	T	0.033	T	0.393	3.000	16.01	3.45	1.388	-0.176	9.661	0.188	0.017560765288	.	.	0.0002	0.0003	8.64e-05	0	0	0.0002	0	6.056e-05	3.84e-05	1	26028	rs151130254	0.0007	0.0007	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0008	8.961e-05	6.708e-05	3.826e-05	0	0	0.0002	0.0008	0.0005	4.637e-05	0.0004	0.0004	0.0004	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	0.0001	0	0.0003	0	0	0	0	0.0007	0.0005	0	0.038	0.43708	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999991	0.58761	D	0.87	0.21467	L	2.89	0.10196	T	-5.24	0.84674	D	0.498	0.83167	-1.0210	0.23389	T	0.033	0.14247	T	9	0.24974379	0.42290	T	0.017561	0.39307	T	0.188	0.46444	.	.	0.491863012465	0.48820	0.42354617743212236	0.42271	0.219526360246	0.32972	0.446415364742	0.31454	T	0.015479	0.12979	T	-0.403353	0.02201	T	-0.485101	0.23906	T	0.192948618012954	0.20017	T	0.868613	0.57103	D	0.26041386	0.49097	0.376465	0.62768	0.26041386	0.49097	0.376465	0.62768	-9.167	0.70304	D	.	.	0.324	0.60608	B	.;.;.;.;.	.;.;.;.;.	3.929565	0.57431	23.9	0.99601675319874317	0.74219	0.15391	0.18889	N	AEFBI	0.088410	0.17924	N	-0.0234304831965027	0.40796	2.428955	-0.055435282945533	0.37256	2.178912	0.997231822598817	0.35404	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	4.39	3.45	0.38602	-0.015000	0.12572	.	.	0.676000	0.76740	0.000000	0.06391	1.000000	0.68203	0.639000	0.32395	0.0:0.0:0.6214:0.3786	9.661	0.39120	809	0.43032	RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type;RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type;.;RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type;RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2521.98	33	chr11	5603392	.	G	T	2521.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.840e-01;DP=890;ExcessHet=0.0000;FS=0.556;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.34;ReadPosRankSum=-1.613e+00;SOR=0.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1307	20	0	1	0
chr11	5603394	5603394	A	-	exonic	TRIM6;TRIM6-TRIM34	.	stopgain	TRIM6:NM_001003818:exon2:c.166delA:p.I56*	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	.	0.0002	0.0003	8.639e-05	0	0	0.0002	0	6.056e-05	.	.	.	rs750188134	0.0007	0.0007	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0008	8.961e-05	6.708e-05	3.826e-05	0	0	0.0002	0.0008	0.0005	4.637e-05	0.0004	0.0004	0.0004	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	0.0001	0	0.0003	0	0	0	0	0.0007	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2518.94	33	chr11	5603393	.	CA	C	2518.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.000e-02;DP=887;ExcessHet=0.0000;FS=0.553;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=-1.554e+00;SOR=0.633	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1307	20	0	1	0
chr11	5603396	5603396	A	-	exonic	TRIM6;TRIM6-TRIM34	.	frameshift deletion	TRIM6:NM_001003818:exon2:c.168delA:p.I56Mfs*20	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	.	0.0002	0.0003	8.64e-05	0	0	0.0002	0	6.056e-05	.	.	.	rs756379199	0.0007	0.0007	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0008	8.961e-05	6.708e-05	3.826e-05	0	0	0.0002	0.0008	0.0005	4.637e-05	0.0004	0.0004	0.0004	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	0.0001	0	0.0003	0	0	0	0	0.0007	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2515.94	33	chr11	5603395	.	TA	T	2515.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=6.03;DP=888;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.17;ReadPosRankSum=-1.442e+00;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1307	20	0	1	0
chr11	5603398	5603399	AC	-	exonic	TRIM6;TRIM6-TRIM34	.	frameshift deletion	TRIM6:NM_001003818:exon2:c.170_171del:p.D57Vfs*42	.	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	.	0.0002	0.0003	8.64e-05	0	0	0.0002	0	6.056e-05	3.84e-05	1	26028	rs780479356	0.0007	0.0007	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0008	8.961e-05	6.708e-05	3.826e-05	0	0	0.0002	0.0008	0.0005	4.637e-05	0.0004	0.0004	0.0004	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	0.0001	0	0.0003	0	0	0	0	0.0007	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2515.94	33	chr11	5603397	.	GAC	G	2515.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.93;DP=893;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.17;ReadPosRankSum=-1.968e+00;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1307	20	0	1	0
chr11	5632692	5632692	C	T	exonic	TRIM34;TRIM6-TRIM34	.	nonsynonymous SNV	TRIM34:NM_130390:exon1:c.C361T:p.R121W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.641	P	0.212	B	0.098	N	1.000	N	3.21	M	0.94	T	-0.881	T	0.119	T	0.617	2.758	15.18	0.5	0.114	-3.651	0.821	0.188	0.012327584331	0.0002	.	3.306e-05	9.634e-05	0	0.0001	0	3.005e-05	0	0	3.23e-05	5	154602	rs376708057	8.209e-06	8.209e-06	8.168e-06	8.251e-06	2.519e-05	4.38e-06	3.46e-06	2.62e-06	1.68e-06	0	0	0	2.519e-05	3.745e-05	0	6.295e-06	1.656e-05	1.159e-05	3.995e-05	3.949e-05	7.789e-05	0	6.696e-05	1.734e-05	1.142e-05	1.176e-05	6.26e-06	4.909e-05	0	6.696e-05	0	0	0	0	4.429e-05	0	0	0.0	0.91255	D	0.002	0.79402	D	0.459	0.36338	P	0.093	0.35187	B	0.097612	0.20019	N	0.265720	1	0.08975	N	2.83	0.82355	M	0.94	0.43672	T	-5.34	0.91268	D	0.195	0.21449	-0.8812	0.49665	T	0.119	0.41626	T	10	0.16647354	0.31086	T	0.012328	0.30806	T	0.188	0.46444	.	.	0.573547766065	0.57022	0.2995061734583527	0.29863	0.0505892821927	0.07103	0.241839542985	0.02958	T	0.044692	0.26894	T	-0.20565	0.19996	T	-0.35165	0.39015	T	0.511037336532185	0.33036	D	0.818618	0.58533	T	0.33814552	0.56131	0.31571823	0.57556	0.33814552	0.56131	0.31571823	0.57555	-7.38	0.56764	T	.	.	0.176	0.41156	B	.;.;.	.;.;.	2.668032	0.34779	19.72	0.9988048182506355	0.95653	0.05924	0.11878	N	AEFBCI	0.120936	0.23536	N	-0.340696342233994	0.27615	1.516566	-0.45902354898943	0.23292	1.269508	0.999616109075681	0.40981	0.706548	0.73137	0	0.52208	0.09955	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	3.53	0.5	0.16125	-3.929000	0.00374	.	.	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.1907:0.4017:0.1862:0.2214	0.821	0.01040	835	0.38313	B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger;B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger;B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1832.98	47	chr11	5632692	.	C	T	1832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.898;DP=1032;ExcessHet=0.0000;FS=1.288;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=-7.190e-01;SOR=0.820	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,105,1509	20	0	1	0
chr11	5696414	5696414	C	A	exonic	TRIM22	.	nonsynonymous SNV	TRIM22:NM_001199573:exon2:c.C182A:p.T61N	.	.	421	1086	15	0	0	15	0.00685871	.	.	3210318	TRIM22-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.024	B	0.034	B	.	.	1.000	N	0.705	N	-1.89	D	-0.770	T	0.310	T	0.144	1.294	10.23	-9.15	-3.545	-5.870	5.424	0.236	0.0434691349519	0.0004	0.000199681	0.0007	9.96e-05	0.0007	0	0	0.0011	0.0055	0.0001	0.000705	109	154602	rs192306924	0.0007	0.0007	0.0006	0.0007	0.0180	0.0006	0.0006	0.0152	0.0142	0.0006	0.0012	0.0052	5.038e-05	1.872e-05	0.0180	0.0005	0.0016	0.0003	0.0007	0.0007	0.0007	0.0008	0.0017	0.0006	0.0006	0.0012	0.0010	0.0003	0	0.0017	0.0046	0	0.0002	0.0136	0.0008	0.0014	0	0.004	0.68238	D	0.539	0.11586	T	0.013	0.16609	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	0.975	0.24501	L	-1.89	0.84557	D	-2.42	0.61580	N	0.214	0.23884	-0.7696	0.56879	T	0.310	0.68076	T	9	0.0062273443	0.00140	T	0.043469	0.60997	D	0.236	0.53931	.	.	0.352262096564	0.34836	0.06989213121162821	0.06927	0.0609254369413	0.06777	0.28359234333	0.07998	T	0.017179	0.31564	T	-0.39732	0.02411	T	-0.406878	0.32584	T	0.0243631973118041	0.01191	T	0.279972	0.05521	T	0.07012583	0.15421	0.09787081	0.23313	0.07012583	0.15421	0.09787081	0.23313	-6.518	0.50425	T	.	.	0.097	0.22024	B	.;.;.;.	.;.;.;.	-0.940067	0.00860	0.030	0.77576614775344133	0.11934	0.02309	0.06629	N	AEFDGBCI	0.033248	0.03905	N	-2.04436975006276	0.00170	0.00726481	-2.1554344804442	0.00141	0.006192413	0.999999999986828	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.57	-9.15	0.00595	-6.443000	0.00081	.	.	-1.954000	0.00481	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1296:0.4111:0.3325:0.1267	5.424	0.15712	873	0.30802	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2099.98	39	chr11	5696414	.	C	A	2099.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=878;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.91;ReadPosRankSum=-1.390e+00;SOR=0.713	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1315	20	0	1	0
chr11	5755696	5755696	A	G	exonic	OR52N4	.	nonsynonymous SNV	OR52N4:NM_001005175:exon1:c.A956G:p.Y319C,	.	.	436	1080	5	1	0	7	0.00323027	.	.	738034	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.662	P	0.379	B	0.553	N	0.973	N	0.345	N	7.05	T	-0.795	T	0.001	T	0.204	2.169	13.21	3.84	0.902	3.065	7.905	0.101	.	0.0037	0.000998403	0.0048	0.0007	0.0007	0	0.0168	0.0058	0.0091	0.0035	0.0044243	684	154602	rs190757899	0.0048	0.0048	0.0048	0.0048	0.0049	0.0047	0.0046	0.0048	0.0047	0.0007	0.0012	0.0008	2.524e-05	0.0176	0.0019	0.0049	0.0040	0.0030	0.0044	0.0044	0.0036	0.0051	0.0055	0.0041	0.0040	0.0051	0.0049	0.0005	0	0.0014	0.0003	0	0.0208	0.0102	0.0055	0.0038	0.0025	0.024	0.47745	D	0.104	0.38160	T	0.662	0.40950	P	0.379	0.43814	B	0.552505	0.11421	N	0.710561	0.973399	0.25549	N	0.345	0.11182	N	7.05	0.00450	T	-0.41	0.14000	N	0.191	0.20925	-0.7955	0.55409	T	0.001	0.00287	T	10	0.0057881773	0.00129	T	.	.	.	0.101	0.28911	.	.	0.411799315854	0.40795	0.0732672878192749	0.07263	0.0440490187585	0.04745	0.319773375988	0.13386	T	0.002252	0.01652	T	-0.575589	0.00205	T	-0.594021	0.13320	T	0.0468497612821979	0.04939	T	0.457454	0.13149	T	0.08625621	0.20042	0.08335506	0.19095	0.08625621	0.20042	0.08335506	0.19094	-3.873	0.21898	T	.	.	0.056	0.00553	B	.;.	.;.	2.438801	0.31384	18.73	0.95626070192555046	0.27401	0.40547	0.26461	N	AEFI	0.099162	0.19968	N	-0.394587736496231	0.25660	1.394655	-0.441556345654211	0.23788	1.299172	3.25734905031521E-4	0.06540	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.99	3.84	0.43422	3.016000	0.49294	.	.	0.740000	0.86194	0.144000	0.23566	0.000000	0.08366	0.011000	0.09372	0.8171:0.0:0.0:0.1829	7.905	0.28921	773	0.48803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1154.98	42	chr11	5755696	.	A	G	1154.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.277e+00;DP=904;ExcessHet=0.0000;FS=10.386;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=9.000e-03;SOR=0.170	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr11	5821056	5821056	A	T	exonic	OR52N2	.	nonsynonymous SNV	OR52N2:NM_001005174:exon1:c.A721T:p.S241C,	.	.	430	1083	9	0	0	9	0.00413793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.981	D	0.000	D	1.000	N	3.705	H	8.14	T	-1.032	T	0.003	T	0.543	2.073	12.89	4.98	1.123	0.344	11.339	0.227	0.00807553447473	.	.	2.473e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs773060844	1.432e-05	1.431e-05	1.048e-05	1.752e-05	0.0001	6.73e-06	4.88e-06	4.657e-05	3.27e-05	0	0	0	0	0	0	0	6.043e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	0.997	0.70673	D	0.981	0.75168	D	0.000154	0.49130	D	0.090248	1	0.81001	D	3.95	0.96445	H	8.14	0.00289	T	-4.41	0.77391	D	0.352	0.39356	-1.0324	0.19681	T	0.003	0.01059	T	10	0.3594401	0.52612	T	0.008076	0.21418	T	0.227	0.52620	0.541	0.65304	0.672407775526	0.66963	0.11696291788169651	0.11624	0.385636752576	0.39853	0.217149525881	0.01152	T	0.003885	0.03292	T	-0.26177	0.12695	T	-0.377122	0.36058	T	0.962838172912598	0.66483	D	0.910509	0.68253	D	0.77229416	0.82186	0.5348432	0.73121	0.77229416	0.82187	0.5348432	0.73121	-7.982	0.60948	D	.	.	0.169	0.37121	B	.	.	2.878286	0.38083	20.7	0.98392064248216971	0.40968	0.46751	0.27829	N	AEFGBI	0.264991	0.38221	N	0.352604315754097	0.58876	4.062773	0.169542326854777	0.48186	3.038038	0.0323633019156235	0.14051	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.11	4.98	0.65679	-0.239000	0.08983	.	.	-0.064000	0.16601	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.9287:0.0:0.0713:0.0	11.339	0.48761	675	0.60470	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3171.98	153	chr11	5821056	.	A	T	3171.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.069e+00;DP=3000;ExcessHet=0.0000;FS=1.667;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.62;ReadPosRankSum=-1.823e+00;SOR=0.569	GT:AD:DP:GQ:PL	0/0:159,0:159:99:0,120,1800	20	0	1	0
chr11	5821117	5821125	TTTTCACTC	-	exonic	OR52N2	.	nonframeshift deletion	OR52N2:NM_001005174:exon1:c.782_790del:p.F261_H264delinsY,	.	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0	0	0	0	0.0029	0.0003105	48	154602	rs749353698	0.0004	0.0004	0.0002	0.0006	0.0037	0.0004	0.0004	0.0033	0.0032	0	0	0	0	0	0.0002	5.713e-06	0.0003	0.0037	7.224e-05	7.218e-05	1.285e-05	0.0001	0.0023	3.969e-05	3.126e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4014.94	196	chr11	5821116	.	TTTTTCACTC	T	4014.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.909e+00;DP=3495;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.80;ReadPosRankSum=1.23;SOR=0.704	GT:AD:DP:GQ:PL	0/0:224,0:224:99:0,120,1800	20	0	1	0
chr11	5857398	5857398	C	T	exonic	OR52E8	.	nonsynonymous SNV	OR52E8:NM_001005168:exon1:c.G305A:p.G102D,	.	.	425	1092	4	1	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.003	B	0.005	B	0.050	N	1.000	N	2	M	2.95	T	-1.040	T	0.015	T	0.567	0.260	5.403	3.29	1.088	-0.024	6.496	0.125	.	0.0003	0.00399361	0.0020	0	0.0003	0.0190	0.0015	0.0008	0.0044	0.0002	0.0018176	281	154602	rs143263598	0.0008	0.0008	0.0008	0.0008	0.0170	0.0008	0.0008	0.0160	0.0155	0	0.0004	0.0017	0.0170	0.0012	0.0007	0.0002	0.0013	0.0004	0.0011	0.0012	0.0011	0.0012	0.0192	0.0010	0.0009	0.0161	0.0150	0	0	0.0014	0.0020	0.0192	0.0011	0	0.0003	0.0014	0.0010	0.083	0.33091	T	0.044	0.49663	D	0.003	0.11197	B	0.005	0.11217	B	0.049972	0.23113	N	0.362111	0.999923	0.19486	N	1.935	0.51832	L	2.95	0.09635	T	-3.15	0.64132	D	0.336	0.37717	-1.0395	0.17465	T	0.015	0.05801	T	10	0.00841409	0.00191	T	.	.	.	0.125	0.34456	.	.	0.199424873507	0.19547	0.3340731362564264	0.33320	0.00247354185408	0.00212	0.190995126963	0.00243	T	0.008678	0.07952	T	-0.520509	0.00437	T	-0.504856	0.21846	T	0.0189130066481676	0.00601	T	0.633137	0.24745	T	0.16535392	0.36802	0.26504424	0.52332	0.16535392	0.36801	0.26504424	0.52331	-6.498	0.50271	T	.	.	0.130	0.27998	B	.	.	1.155056	0.15434	11.85	0.90702436527859531	0.19953	0.08177	0.14139	N	AEFI	0.095608	0.19314	N	-0.494573544296595	0.22259	1.187226	-0.482032122130509	0.22648	1.231221	5.60521394835325E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.24	3.29	0.36801	-0.445000	0.06918	.	.	0.576000	0.29215	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.0:0.5416:0.3598:0.0985	6.496	0.21337	737	0.53483	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2786.98	41	chr11	5857398	.	C	T	2786.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.151e+00;DP=953;ExcessHet=0.0000;FS=3.293;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.52;ReadPosRankSum=-3.490e-01;SOR=0.931	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1099	20	0	1	0
chr11	5947360	5947360	G	A	exonic	OR56A3	.	nonsynonymous SNV	OR56A3:NM_001003443:exon1:c.G14A:p.R5Q,	.	.	404	1117	1	0	0	1	0.000447427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.0	B	0.0	B	0.933	N	1.000	N	0	N	1.2	T	-1.005	T	0.037	T	0.099	-0.044	3.792	-5.52	-0.839	-1.190	8.137	0.022	0.00129720905383	7.8e-05	.	0.0003	0	0.0024	0	0	1.534e-05	0	0	0.000194	30	154602	rs372649269	6.992e-05	7.524e-05	7.966e-05	6.002e-05	0.0014	5.849e-05	5.456e-05	0.0011	0.0010	6.083e-05	0.0014	0.0004	0	0	0	2.27e-05	6.723e-05	2.346e-05	8.543e-05	8.538e-05	0.0001	5.381e-05	0.0003	4.958e-05	3.963e-05	8.88e-05	5.388e-05	7.238e-05	0	0.0003	0	0.0002	0	0	5.88e-05	0	0.0002	1.0	0.00964	T	0.675	0.06205	T	0.0	0.02946	B	0.0	0.01387	B	0.933004	0.07547	N	1.034940	1	0.08975	N	-0.145	0.04423	N	1.2	0.37405	T	0.58	0.02598	N	0.017	0.00226	-1.0052	0.28397	T	0.037	0.16160	T	10	0.012346774	0.00266	T	0.001297	0.01809	T	0.022	0.04323	.	.	0.276065633971	0.27208	0.13950535766227104	0.13873	0.093218127879	0.10534	0.21162211895	0.00882	T	0.018335	0.14797	T	-0.657004	0.00066	T	-0.735531	0.04081	T	0.0260538466175855	0.01413	T	0.40026	0.10182	T	0.017643455	0.00290	0.027518827	0.00911	0.017643455	0.00290	0.027518827	0.00911	-3.632	0.18321	T	.	.	0.073	0.04599	B	.;.;.	.;.;.	-0.827932	0.01053	0.045	0.65405615504754644	0.07763	0.00663	0.02868	N	AEFBI	0.035453	0.04568	N	-1.49574698123251	0.01880	0.08246946	-1.54299578586319	0.02025	0.09252993	4.1948078486619E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.75	-5.52	0.02358	-1.237000	0.03032	.	.	-0.685000	0.04181	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3543:0.1407:0.5049:0.0	8.137	0.30221	708	0.56926	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1360.98	34	chr11	5947360	.	G	A	1360.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.42;DP=843;ExcessHet=0.0000;FS=1.398;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.08;ReadPosRankSum=-7.860e-01;SOR=0.573	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,104,1440	20	0	1	0
chr11	6002895	6002895	G	A	exonic	OR56A4	.	nonsynonymous SNV	OR56A4:NM_001005179:exon1:c.C98T:p.P33L,	.	.	414	1106	2	0	0	2	0.000903342	.	.	2210431	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.024	B	0.027	B	0.616	U	1.000	D	0.76	N	7.63	T	-0.359	T	0.001	T	0.522	2.349	13.81	3.47	1.930	2.200	14.004	0.200	0.00809201458027	7.7e-05	.	9.903e-05	0	0	0	0	0.0002	0	6.089e-05	7.76e-05	12	154602	rs374846573	7.525e-05	7.524e-05	7.079e-05	7.976e-05	0.0007	6.382e-05	5.938e-05	0.0002	0.0001	0	0	0	0	5.616e-05	0.0007	8.094e-05	9.936e-05	8.117e-05	3.941e-05	3.937e-05	2.571e-05	5.373e-05	4.412e-05	1.715e-05	1.129e-05	1.171e-05	6.25e-06	0	0	0	0	0	0	0.0102	4.412e-05	0	0	0.022	0.48642	D	0.023	0.57104	D	0.024	0.19075	B	0.027	0.21085	B	0.616197	0.10820	U	0.699641	0.99977	0.48980	D	0.455	0.12820	N	7.63	0.00351	T	-7.53	0.95131	D	0.44	0.47857	-0.3594	0.73281	T	0.001	0.00318	T	10	0.27501512	0.45058	T	0.008092	0.21444	T	0.200	0.48430	.	.	0.282575091529	0.27877	0.3700316620870174	0.36917	0.195923742146	0.21951	0.341872245073	0.16718	T	0.203921	0.56254	T	-0.310165	0.07734	T	-0.457605	0.26860	T	0.356231008115214	0.27262	T	0.845715	0.52486	T	0.15846045	0.35649	0.21475974	0.46038	0.15846045	0.35649	0.21475974	0.46037	-7.367	0.56671	T	.	.	0.220	0.49137	B	.;.;.;.	.;.;.;.	3.392194	0.46967	22.4	0.98967553088588822	0.49461	0.82116	0.41394	D	AEFDGI	0.171357	0.29832	N	-0.266894031091753	0.30435	1.696977	-0.147904795887024	0.33489	1.916177	0.508682662277133	0.21001	0.487112	0.14033	0	0.573888	0.26702	0	0.55458	0.18720	0	0.564101	0.26826	0	.	.	3.47	3.47	0.38831	1.502000	0.35312	.	.	0.676000	0.76740	0.018000	0.19461	1.000000	0.68203	0.907000	0.44265	0.0:0.0:1.0:0.0	14.004	0.63969	808	0.43318	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1682.98	41	chr11	6002895	.	G	A	1682.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=883;ExcessHet=0.0000;FS=0.655;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.60;MQRankSum=-7.900e-02;QD=12.95;ReadPosRankSum=1.39;SOR=0.591	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1172	20	0	1	0
chr11	6200107	6200107	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C884G:p.P295R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.977	D	0.689	P	0.034	N	0.570	D	4.255	H	-0.08	T	0.418	D	0.499	T	0.685	1.906	12.33	3.23	0.271	3.583	13.827	0.400	0.0539634185351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0021	0.0008	0.0006	0.0008	0.0006	0.0006	0.0008	0.0008	0.0007	2.238e-05	0.0002	0.0002	1.93e-05	0.0005	0.0008	0.0004	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.977	0.58535	D	0.689	0.53736	P	0.034271	0.24791	N	0.198413	0.569916	0.32285	D	5.07	0.99906	H	-0.08	0.63911	T	-8.12	0.96707	D	0.8	0.79599	0.418	0.89363	D	0.499	0.81057	T	10	0.9466181	0.93989	D	0.053963	0.65674	D	0.400	0.71401	0.737	0.86978	0.756562400578	0.75435	0.47455396514490583	0.47374	0.062343724922	0.06938	0.315678536892	0.12767	T	0.146888	0.48470	T	0.167539	0.70898	D	0.00288233	0.70523	D	0.995080590248108	0.86803	D	0.934707	0.75503	D	0.9610508	0.97386	0.9567188	0.98791	0.9610508	0.97386	0.9567188	0.98791	-12.124	0.85450	D	.	.	0.505	0.64808	A	.	.	2.707812	0.35383	19.88	0.97301537367121227	0.33280	0.95966	0.66930	D	AEFBI	0.511260	0.53997	D	0.208503100090119	0.51610	3.340933	0.082639564659092	0.43676	2.664457	0.99944430790802	0.39736	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	3.23	0.36150	4.053000	0.57139	3.151000	0.36525	-0.172000	0.11096	0.999000	0.42656	0.986000	0.30841	0.667000	0.33166	0.0:0.8582:0.0:0.1418	13.827	0.62847	665	0.61472	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1980.01	154	chr11	6200107	.	C	G	1980.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-6.829e+00;DP=2478;ExcessHet=4.7172;FS=120.687;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.23;ReadPosRankSum=1.61;SOR=11.011	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:147,23:174:99:.:.:349,0,5576	12	0	9	0
chr11	6200109	6200109	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C886G:p.L296V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.911	P	0.158	B	0.004	N	0.906	D	1.675	L	1.07	T	-0.977	T	0.081	T	0.099	1.942	12.45	5.11	2.518	-0.072	13.517	0.088	0.0114858743224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.13879	T	0.419	0.14158	T	0.911	0.50336	P	0.158	0.34617	B	0.003626	0.34687	N	0.000000	0.905535	0.36277	D	0.41	0.12415	N	1.07	0.39586	T	0.43	0.03297	N	0.052	0.02366	-0.9765	0.35794	T	0.081	0.32090	T	10	0.1060805	0.19639	T	0.011486	0.29167	T	0.088	0.25558	0.397	0.42426	0.207176502487	0.20327	0.04900367529630378	0.04843	0.0233216950399	0.02366	0.204009205103	0.00582	T	5.16E-4	0.00194	T	-0.253739	0.13642	T	-0.602255	0.12622	T	0.502938449382782	0.32737	D	0.70483	0.31518	T	0.12892555	0.30127	0.11809379	0.28508	0.12892555	0.30127	0.11809379	0.28508	-3.839	0.21388	T	.	.	0.096	0.15385	B	.	.	2.102681	0.26757	17.23	0.99468787433388461	0.66207	0.36052	0.25444	N	AEFBI	0.406343	0.47887	N	-0.0291148856449301	0.40540	2.409298	-0.00557001676917808	0.39462	2.340232	0.999715313907442	0.42101	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	5.11	0.69188	-0.358000	0.07692	0.729000	0.21072	0.599000	0.40250	0.000000	0.06391	0.185000	0.23452	0.633000	0.32236	0.1663:0.8337:0.0:0.0	13.517	0.61000	665	0.61472	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	2170.01	155	chr11	6200109	.	C	G	2170.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-6.569e+00;DP=2452;ExcessHet=4.7172;FS=131.986;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.32;ReadPosRankSum=1.54;SOR=11.175	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:147,30:180:99:.:.:361,0,5588	12	0	9	0
chr11	6390704	6390704	G	0	exonic	SMPD1	.	.	.	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	43	1200	222	19	38	298	0.0977444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2978.5	52	chr11	6390704	.	G	GCGC,*	2978.5	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=0.024;DP=1009;ExcessHet=0.0409;FS=0.508;InbreedingCoeff=0.3189;MLEAC=3,2;MLEAF=0.071,0.048;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=0.059;SOR=0.647	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0:34:99:.:.:0,99,1212,99,1212,1212	17	0	2	0
chr11	6390705	6390711	TGCTGGC	0	exonic	SMPD1	.	.	.	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55208.52	52	chr11	6390705	.	TGCTGGC	CGCTGGC,T,*,TGGCGCTGGC,TGGCGCTGGCGCTGGC	55208.52	.	AC=23,14,2,2,1;AF=0.548,0.333,0.048,0.048,0.024;AN=42;BaseQRankSum=2.04;DP=2079;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=23,14,2,2,1;MLEAF=0.548,0.333,0.048,0.048,0.024;MQ=59.99;MQRankSum=0.00;QD=32.84;ReadPosRankSum=1.69;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,92,0,0,0,0:92:99:.:.:2786,274,0,2786,274,2786,2786,274,2786,2786,2786,274,2786,2786,2786,2786,274,2786,2786,2786,2786	0	5	0	0
chr11	6390705	6390705	-	GGC	exonic	SMPD1	.	nonframeshift insertion	SMPD1:NM_000543:exon1:c.107_108insGGC:p.V36_L37insA	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	66	5	343	388	720	1839	0.991143	.	.	526543	not_specified|not_provided|Niemann-Pick_disease,_type_B|Niemann-Pick_disease,_type_A	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011871,MedGen:C0268243,OMIM:607616,Orphanet:77293|MONDO:MONDO:0009756,MedGen:C0268242,OMIM:257200,Orphanet:77292	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0063	0.0019	0.0048	0.0047	0.0086	0.0021	0.0111	0.0252	0.0046895	725	154602	rs775568984	0.0048	0.0048	0.0041	0.0055	0.0294	0.0047	0.0046	0.0284	0.0280	0.0030	0.0070	0.0053	0.0069	0.0151	0.0054	0.0022	0.0059	0.0294	0.0053	0.0052	0.0042	0.0063	0.0345	0.0050	0.0048	0.0301	0.0284	0.0029	0	0.0061	0.0041	0.0086	0.0179	0.0221	0.0024	0.0015	0.0345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55208.52	52	chr11	6390705	.	TGCTGGC	CGCTGGC,T,*,TGGCGCTGGC,TGGCGCTGGCGCTGGC	55208.52	.	AC=23,14,2,2,1;AF=0.548,0.333,0.048,0.048,0.024;AN=42;BaseQRankSum=2.04;DP=2079;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=23,14,2,2,1;MLEAF=0.548,0.333,0.048,0.048,0.024;MQ=59.99;MQRankSum=0.00;QD=32.84;ReadPosRankSum=1.69;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,92,0,0,0,0:92:99:.:.:2786,274,0,2786,274,2786,2786,274,2786,2786,2786,274,2786,2786,2786,2786,274,2786,2786,2786,2786	0	5	0	0
chr11	6392185	6392185	G	T	exonic	SMPD1	.	nonsynonymous SNV	SMPD1:NM_001318088:exon2:c.G159T:p.K53N	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.612	P	0.196	B	.	.	1.000	N	.	.	-2.28	D	-1.026	T	0.062	T	0.22	3.035	16.13	1.84	0.495	0.539	5.173	0.019	0.0236454272139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	625.98	33	chr11	6392185	.	G	T	625.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.355e+00;DP=776;ExcessHet=0.0000;FS=4.016;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=1.96;SOR=0.278	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1139	20	0	1	0
chr11	6437081	6437081	G	A	exonic	HPX	.	nonsynonymous SNV	HPX:NM_000613:exon7:c.C800T:p.T267M,	.	.	423	1091	7	1	0	9	0.00410771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.003	B	0.001	B	0.262	N	1.000	N	1.665	L	0.32	T	-0.983	T	0.183	T	0.073	0.783	8.132	1.65	0.035	1.193	7.634	0.099	0.00445136923178	7.7e-05	0.000399361	0.0006	9.625e-05	8.64e-05	0.0001	0	0.0003	0.0011	0.0029	0.0005175	80	154602	rs180923845	0.0006	0.0006	0.0004	0.0007	0.0040	0.0005	0.0005	0.0028	0.0027	0	0.0003	0	2.519e-05	0	0.0040	0.0004	0.0007	0.0031	0.0004	0.0004	0.0004	0.0004	0.0048	0.0003	0.0003	0.0033	0.0028	4.812e-05	0	0.0003	0	0	0	0.0136	0.0004	0.0014	0.0048	0.055	0.38407	T	0.085	0.41074	T	0.003	0.11197	B	0.001	0.04355	B	0.262427	0.03718	N	1.539910	1	0.08975	N	0.875	0.21512	L	0.32	0.58468	T	-3.39	0.66896	D	0.109	0.09490	-0.9834	0.34211	T	0.183	0.53118	T	10	0.009746462	0.00219	T	0.004451	0.10906	T	0.099	0.28413	.	.	0.252681307341	0.24864	0.4750191506890764	0.47420	0.244393863738	0.26944	0.253955602646	0.04196	T	0.21976	0.58286	T	-0.582485	0.00186	T	-0.612526	0.11781	T	0.00892574084697565	0.00111	T	0.549745	0.18930	T	0.045345016	0.07405	0.13261719	0.31820	0.045345016	0.07405	0.13261719	0.31819	-10.647	0.77687	D	.	.	0.074	0.05103	B	.	.	1.639102	0.20919	14.97	0.92898740946173697	0.22453	0.00097	0.00633	N	AEFBI	0.110487	0.21908	N	-1.10381763173796	0.06575	0.3030571	-1.08208074138626	0.08053	0.3943056	0.93575543691628	0.27226	0.553676	0.25195	0	0.588066	0.40923	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.25	1.65	0.23015	1.165000	0.31432	5.201000	0.47933	-0.666000	0.04332	0.001000	0.13787	0.409000	0.24749	0.803000	0.37862	0.651:0.0:0.349:0.0	7.634	0.27424	754	0.51307	Hemopexin-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2526.98	38	chr11	6437081	.	G	A	2526.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=936;ExcessHet=0.0000;FS=2.277;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=0.202;SOR=0.854	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr11	6498331	6498331	A	G	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_173589:exon2:c.A116G:p.Q39R	.	.	424	1089	8	1	0	10	0.00457038	.	.	713013	DNHD1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.004	B	0.004	B	0.015	N	1.000	N	0.895	L	2.64	T	-1.040	T	0.034	T	0.123	1.953	12.49	2.85	0.929	0.780	6.125	0.043	.	0.0002	0.00399361	0.0020	0.0002	0.0022	0	0.0003	0.0008	0.0033	0.0093	0.0017982	278	154602	rs140872512	0.0014	0.0014	0.0012	0.0016	0.0076	0.0013	0.0013	0.0071	0.0069	0.0003	0.0027	0.0010	0	0.0003	0.0036	0.0010	0.0019	0.0076	0.0010	0.0010	0.0008	0.0011	0.0066	0.0008	0.0008	0.0048	0.0042	0.0002	0	0.0026	0.0003	0	0	0.0034	0.0009	0.0024	0.0066	0.538	0.09128	T	0.0	0.92824	D	0.004	0.12183	B	0.004	0.10090	B	0.015371	0.28265	N	0.251150	1	0.08975	N	1.04	0.26193	L	1.67	0.27331	T	-0.88	0.32185	N	0.105	0.20528	-1.0400	0.17313	T	0.034	0.14813	T	10	0.00371477	0.00069	T	.	.	.	0.043	0.11576	.	.	0.258283824007	0.25425	0.17349271139081857	0.17269	0.126673817958	0.14272	0.250474870205	0.03818	T	0.009248	0.08431	T	-0.609161	0.00128	T	-0.641538	0.09557	T	0.00466466240997347	0.00050	T	0.40366	0.10339	T	0.055514015	0.10798	0.062225383	0.12142	0.055514015	0.10797	0.062225383	0.12141	-3.246	0.13051	T	.	.	0.071	0.06896	B	.;.;.	.;.;.	0.635637	0.10040	6.792	0.97041448522657536	0.32113	0.14574	0.18475	N	AEFDBCIJ	0.038647	0.05500	N	-0.798425020604011	0.13352	0.6570904	-0.801763829627763	0.14453	0.755228	0.982952066627204	0.30481	0.632932	0.41330	0	0.577304	0.33150	0	0.601832	0.32385	0	0.491896	0.07777	0	.	.	5.18	2.85	0.32333	0.775000	0.26351	-0.267000	0.10379	0.750000	0.87069	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.8001:0.0:0.1999:0.0	6.125	0.19391	496	0.76301	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1477.98	45	chr11	6498331	.	A	G	1477.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.854e+00;DP=937;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.37;ReadPosRankSum=0.781;SOR=0.709	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1251	20	0	1	0
chr11	6528986	6528986	G	A	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon12:c.G2212A:p.G738S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.0	B	0.0	B	.	.	1.000	N	-0.55	N	1.85	T	-0.962	T	0.022	T	0.066	-0.788	0.709	2.91	0.312	0.922	6.035	0.026	0.00354120893197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.147e-07	6.841e-07	0	1.449e-06	9.268e-07	0	0	.	.	0	0	0	0	0	0	9.268e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.442	0.09209	T	0.476	0.12037	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.99931	0.21372	N	-0.55	0.02420	N	1.85	0.24472	T	1.4	0.00835	N	0.059	0.08786	-0.9622	0.38761	T	0.022	0.09238	T	9	0.039851397	0.02507	T	0.003541	0.08062	T	0.026	0.05648	0.413	0.45052	0.0762999501168	0.06990	0.09807553098423538	0.09738	0.115934735374	0.13078	0.240065932274	0.02796	T	0.005018	0.04451	T	-0.337655	0.05552	T	-0.722794	0.04662	T	0.0292558665522262	0.01876	T	0.339066	0.07293	T	0.018507883	0.00372	0.039172478	0.03949	0.018507883	0.00372	0.039172478	0.03949	-2.677	0.07112	T	.	.	0.079	0.07083	B	.;.	.;.	0.504845	0.08736	5.513	0.54789603799005304	0.05208	0.25739	0.22788	N	AEFBHCI	0.039574	0.05768	N	-1.31095912217947	0.03549	0.1587241	-1.16391385332563	0.06522	0.3141759	0.196653094406212	0.18068	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	5.3	2.91	0.32903	0.925000	0.28392	0.192000	0.15754	-1.855000	0.00567	0.704000	0.28664	0.029000	0.21193	0.047000	0.14932	0.16:0.0:0.1741:0.6659	6.035	0.18930	452	0.79239	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	979.98	50	chr11	6528986	.	G	A	979.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.460e-01;DP=1115;ExcessHet=0.0000;FS=11.935;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.33;ReadPosRankSum=1.35;SOR=0.640	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	20	0	1	0
chr11	6533137	6533137	C	T	exonic	DNHD1	.	stopgain	DNHD1:NM_144666:exon13:c.C2458T:p.R820X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	6.534	37	6.17	2.941	2.396	13.244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1174340762	1.358e-05	1.3e-05	1.128e-05	1.594e-05	5.048e-05	8.68e-06	7e-06	1.678e-05	9.94e-06	0	0	0	0	0	0	1.39e-05	0	5.048e-05	6.572e-06	6.567e-06	1.285e-05	0	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.304	0.34336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.495825	0.94169	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	7.789698	0.96863	36	0.99794034225393746	0.87928	0.90652	0.52007	D	AEFBI	0.096992	0.19571	N	0.781677882713241	0.84945	8.432213	0.630227098670999	0.77145	6.623448	0.780131527314596	0.23827	0.732398	0.92422	0	0.743671	0.97443	0	0.566861	0.19136	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	2.310000	0.43368	7.656000	0.63963	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.053000	0.15439	0.1584:0.8416:0.0:0.0	13.244	0.59439	457	0.78953	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2170.98	36	chr11	6533137	.	C	T	2170.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.57;DP=878;ExcessHet=0.0000;FS=8.525;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=-6.270e-01;SOR=0.571	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1372	20	0	1	0
chr11	6533756	6533756	C	T	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon14:c.C2581T:p.R861C,	.	.	407	1110	4	1	0	6	0.00269542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.988	D	.	.	1.000	D	0.895	L	0.72	T	-0.752	T	0.209	T	0.463	3.618	18.41	5.92	2.795	2.426	15.808	0.240	0.0380248944767	.	0.000998403	0.0008	0	0	0	0	0	0	0.0020	0.0001423	22	154602	rs560574597	0.0002	0.0002	0.0001	0.0003	0.0026	0.0002	0.0002	0.0023	0.0022	0	0.0003	3.971e-05	0	0	0.0016	4.171e-05	0.0002	0.0026	8.554e-05	8.534e-05	7.723e-05	9.422e-05	0.0021	4.964e-05	3.968e-05	0.0011	0.0009	2.412e-05	0	0	0	0	0	0.0034	1.471e-05	0	0.0021	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.988	0.77976	D	.	.	.	.	0.998675	0.45259	D	1.04	0.26193	L	0.72	0.50976	T	-4.39	0.77225	D	0.365	0.44283	-0.7516	0.57852	T	0.209	0.56906	T	9	0.011749864	0.00256	T	0.038025	0.57976	D	0.240	0.54500	0.516	0.61611	0.458644561121	0.45486	0.6865432728730755	0.68594	0.629869524817	0.57000	0.474402397871	0.35286	T	0.028636	0.20698	T	-0.36613	0.03795	T	-0.304555	0.44242	T	0.204847250874341	0.20681	T	0.649135	0.25986	T	0.18424475	0.39730	0.22098094	0.46893	0.18424475	0.39730	0.22098094	0.46892	-4.235	0.27255	T	.	.	0.146	0.32251	B	.;.	.;.	4.016331	0.59292	24.1	0.99941141151366708	0.99797	0.85724	0.44888	D	AEFGBI	0.359129	0.44957	N	0.495081107438591	0.66802	4.997474	0.500050859187274	0.67993	5.159266	0.999005225856939	0.38186	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	5.92	5.92	0.95557	2.396000	0.44122	1.722000	0.28267	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.652000	0.32748	0.0:1.0:0.0:0.0	15.808	0.78306	457	0.78953	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2061.98	39	chr11	6533756	.	C	T	2061.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.893;DP=1300;ExcessHet=0.0000;FS=4.595;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.11;ReadPosRankSum=-1.999e+00;SOR=0.381	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1184	20	0	1	0
chr11	6538718	6538718	G	A	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon16:c.G3233A:p.R1078H,	.	.	.	.	.	.	.	.	.	.	.	2428193	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.62	T	0.056	B	0.016	B	.	.	0.989	N	0	N	0.11	T	-1.022	T	0.078	T	0.162	1.490	10.93	-0.893	0.013	-0.394	9.324	0.025	0.0122951806365	.	0.000199681	0.0003	0	0	0.0019	0	0.0002	0	0.0003	5.82e-05	9	154602	rs371752828	5.152e-05	5.13e-05	3.952e-05	6.387e-05	0.0003	4.176e-05	3.838e-05	0.0002	0.0002	0.0001	0	3.977e-05	0.0002	0	0	1.763e-05	0.0003	0.0003	6.565e-05	6.561e-05	3.854e-05	9.397e-05	0.0010	3.513e-05	2.614e-05	0.0004	0.0003	2.406e-05	0	0	0	0.0006	0	0	1.47e-05	0	0.0010	0.569	0.06204	T	0.0	0.92824	D	0.056	0.22806	B	0.016	0.17743	B	.	.	.	.	0.999653	0.20771	N	0.205	0.09354	N	0.11	0.61208	T	-0.59	0.17624	N	0.136	0.13341	-1.0220	0.23063	T	0.078	0.30982	T	9	0.0077114403	0.00175	T	0.012295	0.30730	T	0.025	0.05312	0.435	0.48664	0.233785782151	0.22967	0.06074189850731075	0.06014	0.156989701927	0.17727	0.238761171699	0.02680	T	0.031505	0.22070	T	-0.405213	0.02140	T	-0.483578	0.24067	T	0.0206664675509117	0.00766	T	0.570043	0.20293	T	0.026347315	0.01680	0.043153014	0.05303	0.026347315	0.01680	0.043153014	0.05303	-3.891	0.22167	T	.	.	0.078	0.06849	B	.;.	.;.	0.645004	0.10137	6.879	0.94415692412414165	0.24817	0.03000	0.07863	N	AEFDBI	0.036273	0.04807	N	-0.921360789886201	0.10344	0.4938141	-0.828505707898611	0.13806	0.7181492	0.997718022459209	0.35940	0.634777	0.41761	0	0.643519	0.57511	0	0.675528	0.61593	0	0.567892	0.33627	0	.	.	5.46	-0.893	0.10031	-0.178000	0.09775	-5.860000	0.01572	0.676000	0.76740	0.008000	0.17931	0.000000	0.08366	0.862000	0.40904	0.487:0.0:0.513:0.0	9.324	0.37141	457	0.78953	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1249.98	35	chr11	6538718	.	G	A	1249.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.919e+00;DP=811;ExcessHet=0.0000;FS=1.754;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=2.12;SOR=0.463	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1179	20	0	1	0
chr11	6544228	6544228	G	A	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon19:c.G3736A:p.A1246T,	.	.	423	1093	6	0	0	6	0.00273723	.	.	724593	DNHD1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.85	T	0.0	B	0.006	B	.	.	1.000	N	0.69	N	0.15	T	-1.012	T	0.091	T	0.049	0.930	8.788	0.28	0.131	0.002	7.126	0.035	0.0114797969781	0.0028	0.00219649	0.0051	0.0010	0	0	0	0.0024	0	0.0096	0.001229	190	154602	rs186978440	0.0040	0.0039	0.0040	0.0041	0.0101	0.0040	0.0039	0.0095	0.0093	0.0006	0.0004	0.0029	2.798e-05	0.0006	0.0012	0.0042	0.0023	0.0101	0.0024	0.0024	0.0024	0.0023	0.0068	0.0022	0.0021	0.0050	0.0044	0.0009	0	0.0009	0.0026	0.0002	0.0005	0	0.0038	0.0009	0.0068	1.0	0.00964	T	0.065	0.44702	T	0.0	0.02946	B	0.006	0.12133	B	.	.	.	.	0.993171	0.23759	N	-1.01	0.01154	N	0.15	0.60734	T	1.22	0.01051	N	0.079	0.05414	-1.0125	0.26133	T	0.091	0.34901	T	9	0.005279094	0.00115	T	0.01148	0.29147	T	0.035	0.08770	.	.	0.210429274316	0.20668	0.037799768222473155	0.03725	0.114439556271	0.12903	0.273092210293	0.06548	T	0.033322	0.22864	T	-0.613467	0.00121	T	-0.644584	0.09339	T	0.00320498266328223	0.00034	T	0.475952	0.14261	T	0.026946446	0.01819	0.06689118	0.13764	0.026946446	0.01819	0.06689118	0.13764	-3.495	0.16361	T	.	.	0.065	0.01960	B	.;.	.;.	0.712969	0.10821	7.500	0.92915229743231609	0.22475	0.11544	0.16704	N	AEFBI	0.025361	0.01725	N	-0.908481829039587	0.10642	0.5095624	-0.775321889933573	0.15101	0.7925385	6.22264173754198E-5	0.04366	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.09	0.28	0.14934	-0.003000	0.12836	0.819000	0.21831	-0.116000	0.14526	0.989000	0.36753	0.979000	0.30280	0.975000	0.56047	0.5813:0.0:0.4187:0.0	7.126	0.24649	467	0.78285	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	812.98	39	chr11	6544228	.	G	A	812.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.400e-02;DP=824;ExcessHet=0.0000;FS=0.840;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.16;ReadPosRankSum=-8.150e-01;SOR=0.820	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,114,1247	20	0	1	0
chr11	6547636	6547636	C	T	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon21:c.C6697T:p.R2233C,	.	.	434	1071	15	2	0	19	0.00879223	.	.	1670601	not_provided|DNHD1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.99	D	0.53	P	0.867	N	0.872	N	1.245	L	1.63	T	-1.053	T	0.053	T	0.333	3.272	16.98	2.92	0.311	0.726	4.302	0.105	.	0.0064	0.00419329	0.0130	0.0079	0.0029	0	0	0.0066	0.0130	0.0336	0.0023997	371	154602	rs117939157	0.0065	0.0062	0.0061	0.0068	0.0204	0.0063	0.0063	0.0195	0.0192	0.0081	0.0013	0.0067	0.0001	0.0007	0.0036	0.0061	0.0048	0.0204	0.0058	0.0058	0.0057	0.0058	0.0154	0.0054	0.0053	0.0126	0.0115	0.0088	0	0.0017	0.0060	0.0002	0.0007	0.0068	0.0055	0.0024	0.0154	0.164	0.23360	T	0.004	0.74150	D	0.99	0.63424	D	0.53	0.48544	P	0.866569	0.07149	N	1.062860	0.968442	0.25801	N	2.35	0.67516	M	1.63	0.28002	T	-1.64	0.39314	N	0.213	0.23758	-1.0531	0.13547	T	0.053	0.22501	T	10	0.004265189	0.00085	T	.	.	.	0.105	0.29889	.	.	0.398283496042	0.39440	0.16205055164973825	0.16126	0.420025717159	0.42536	0.223574578762	0.01527	T	0.011186	0.10013	T	-0.501908	0.00558	T	-0.478137	0.24643	T	0.0237728193375252	0.01117	T	0.655434	0.26547	T	0.06109274	0.12611	0.042963356	0.05238	0.06109274	0.12611	0.042963356	0.05237	-4.18	0.26461	T	.	.	0.086	0.10642	B	.;.	.;.	2.216652	0.28284	17.75	0.99718684397666835	0.81914	0.47592	0.28017	N	AEFBI	0.114976	0.22625	N	-0.382220235524935	0.26102	1.422027	-0.482424820534155	0.22637	1.23058	0.00615243879697362	0.11143	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	6.17	2.92	0.32998	0.765000	0.26211	0.370000	0.17667	-0.218000	0.08083	0.505000	0.26994	0.023000	0.20922	0.001000	0.02609	0.1518:0.6028:0.1464:0.099	4.302	0.10372	473	0.77910	.;.	.	.	.	.	rs117939157	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1063.11	31	chr11	6547636	.	C	T	1063.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.564;DP=755;ExcessHet=0.1072;FS=1.947;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.99;ReadPosRankSum=0.830;SOR=0.998	GT:AD:DP:GQ:PL	0/0:35,0:35:90:0,90,1350	19	0	2	0
chr11	6557229	6557229	G	A	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon25:c.G7934A:p.R2645H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.978	D	0.375	B	.	.	1.000	D	0	N	1.41	T	-1.039	T	0.043	T	0.77	2.405	14.00	4.3	2.755	3.693	13.038	0.190	0.00565904057568	.	0.000399361	0.0004	0	0	0	0	0	0	0.0009	5.82e-05	9	154602	rs554435572	7.147e-05	6.84e-05	4.936e-05	9.418e-05	0.0008	5.968e-05	5.564e-05	0.0006	0.0006	6.33e-05	5.602e-05	0	2.798e-05	0	0	2.595e-05	0.0001	0.0008	5.252e-05	5.249e-05	3.855e-05	6.711e-05	0.0006	2.555e-05	1.829e-05	0.0002	8.989e-05	4.81e-05	0	0	0	0.0002	0	0	1.47e-05	0.0005	0.0006	0.132	0.26519	T	0.0	0.92824	D	0.978	0.58756	D	0.299	0.41006	B	.	.	.	.	0.666684	0.33103	D	1.59	0.40313	L	1.41	0.33412	T	-2.97	0.61865	D	0.575	0.59732	-1.0392	0.17556	T	0.043	0.18410	T	9	0.088510275	0.15248	T	0.005659	0.14651	T	0.190	0.46781	.	.	0.496495002422	0.49283	0.3516187561819895	0.35075	0.202126220832	0.22635	0.454451501369	0.32552	T	0.040203	0.25449	T	-0.247242	0.14438	T	-0.189916	0.55598	T	0.0988103213017669	0.12226	T	0.677432	0.28627	T	0.1507131	0.34297	0.16524628	0.38237	0.1507131	0.34297	0.16524628	0.38236	-6.11	0.47190	T	.	.	0.198	0.42007	B	.;.	.;.	3.810257	0.54953	23.6	0.99405263150921574	0.63028	0.84260	0.43342	D	AEFDBI	0.315658	0.42017	N	0.261951453500443	0.54233	3.589357	0.370812926571012	0.59772	4.157897	0.999243974306453	0.38873	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.28	4.3	0.50540	3.691000	0.54452	9.686000	0.81259	0.672000	0.70159	0.998000	0.41325	1.000000	0.68203	0.991000	0.66497	0.0898:0.0:0.9102:0.0	13.038	0.58290	464	0.78488	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1547.98	86	chr11	6557229	.	G	A	1547.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.62;DP=1343;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=0.145;SOR=0.702	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1218	20	0	1	0
chr11	6557386	6557386	-	GAG	exonic	DNHD1	.	nonframeshift insertion	DNHD1:NM_144666:exon25:c.8091_8092insGAG:p.E2703_R2704insE,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2318.05	86	chr11	6557383	.	TGAG	TGAGGAG,T	2318.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.149;DP=1347;ExcessHet=0.1072;FS=0.543;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=0.318;SOR=0.616	GT:AD:DP:GQ:PL	0/0:34,0,0:34:99:0,99,1218,99,1218,1218	19	0	1	0
chr11	6557399	6557399	G	T	exonic	DNHD1	.	stopgain	DNHD1:NM_144666:exon25:c.G8104T:p.E2702X,	.	.	324	1196	2	0	0	2	0.000835422	.	.	1923490	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Pathogenic	.	.	.	.	.	.	.	.	0.87	T	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	12.528	46	1.03	0.308	1.307	5.471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1012468951	1.144e-05	1.231e-05	9.875e-06	1.304e-05	1.39e-05	6.77e-06	5.48e-06	8.35e-06	6.62e-06	0	0	0	0	0	0	1.39e-05	1.72e-05	0	1.314e-05	1.313e-05	0	2.69e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.167	0.18376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284884	0.81731	D	0.276725	0.86946	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	7.020853	0.96043	35	0.98375330917398052	0.40791	0.67471	0.33445	D	AEFDBI	0.065849	0.12864	N	0.0960410083347103	0.46276	2.870636	-0.182596787809762	0.32175	1.827988	0.955971490287416	0.28220	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.16	1.03	0.19161	1.083000	0.30427	5.003000	0.46611	-0.119000	0.14319	0.997000	0.40164	1.000000	0.68203	0.043000	0.14563	0.3318:0.1345:0.5337:0.0	5.471	0.15967	464	0.78488	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1127.98	86	chr11	6557399	.	G	T	1127.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.198e+00;DP=1330;ExcessHet=0.0000;FS=0.791;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.53;ReadPosRankSum=-6.300e-01;SOR=0.808	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1218	20	0	1	0
chr11	6564079	6564079	G	C	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon31:c.G10239C:p.K3413N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.922	P	0.583	P	.	.	1.000	N	0.895	L	-0.82	T	-0.736	T	0.305	T	0.179	1.460	10.83	4.27	2.202	2.147	12.045	0.246	0.037918526582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.17940	T	0.0	0.92824	D	0.922	0.51142	P	0.583	0.50264	P	.	.	.	.	0.966659	0.25884	N	2.015	0.55033	M	-0.82	0.74053	T	-1.07	0.27876	N	0.325	0.41162	-0.7361	0.58653	T	0.305	0.67547	T	9	0.36649692	0.53143	T	0.037919	0.57909	D	0.246	0.55340	0.518	0.61915	0.707650254962	0.70510	0.38322019556356207	0.38237	0.532401565123	0.50703	0.379581391811	0.22198	T	0.064	0.32320	T	-0.08036	0.39657	T	-0.353208	0.38837	T	0.574073241482542	0.35391	D	0.510949	0.16331	T	0.27499932	0.50564	0.25137228	0.50747	0.27499932	0.50564	0.25137228	0.50746	-4.843	0.35088	T	.	.	0.412	0.60243	A	.;.	.;.	2.357286	0.30230	18.37	0.98888292569358716	0.47948	0.86877	0.46256	D	AEFDBI	0.133163	0.25273	N	0.0924144595753655	0.46109	2.856479	0.0938492095698804	0.44239	2.709482	0.999997307219467	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.27	4.27	0.50009	2.194000	0.42301	0.078000	0.14353	0.618000	0.50648	0.991000	0.37257	0.003000	0.18671	0.944000	0.48669	0.0:0.0:1.0:0.0	12.045	0.52771	425	0.81160	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2941	723.45	41	chr11	6564079	.	G	C	723.45	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-2.656e+00;DP=1725;ExcessHet=6.1002;FS=193.467;InbreedingCoeff=-0.4201;MLEAC=12;MLEAF=0.353;MQ=60.00;MQRankSum=0.00;QD=0.93;ReadPosRankSum=1.74;SOR=11.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:65,28:108:99:.:.:123,0,1100	7	0	10	4
chr11	6564080	6564080	G	A	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon31:c.G10240A:p.A3414T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.474	P	0.225	B	.	.	1.000	N	0.805	L	-0.85	T	-0.888	T	0.218	T	0.147	1.580	11.24	-0.135	-0.223	0.076	6.244	0.083	0.0467579308286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.30097	T	0.0	0.92824	D	0.474	0.36620	P	0.225	0.38015	B	.	.	.	.	0.998909	0.21810	N	2.015	0.55033	M	-0.85	0.74371	T	-0.93	0.24898	N	0.138	0.13626	-0.8881	0.49097	T	0.218	0.57994	T	9	0.13051403	0.24838	T	0.046758	0.62606	D	0.083	0.24192	0.346	0.34112	0.579495267905	0.57620	0.09409961299812689	0.09341	0.127881264802	0.14423	0.30204719305	0.10706	T	0.069417	0.33703	T	-0.113712	0.34157	T	-0.401116	0.33253	T	0.206445809254729	0.20766	T	0.528347	0.17454	T	0.07276206	0.16210	0.083248354	0.19065	0.07276206	0.16209	0.083248354	0.19064	-4.457	0.30322	T	.	.	0.121	0.25199	B	.;.	.;.	1.174685	0.15644	12.00	0.98025180740868112	0.37666	0.48763	0.28280	N	AEFDBI	0.078697	0.15884	N	-0.473820017221318	0.22940	1.228488	-0.469990113186012	0.22985	1.251195	0.998335283604032	0.36777	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.27	-0.135	0.12819	0.092000	0.14905	0.199000	0.15831	0.618000	0.50648	0.989000	0.36753	0.007000	0.19602	0.931000	0.46843	0.0:0.2831:0.316:0.4009	6.244	0.20013	425	0.81160	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	80.98	52	chr11	6564080	.	G	A	80.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.075e+00;DP=1014;ExcessHet=0.0000;FS=50.845;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.08;ReadPosRankSum=1.02;SOR=5.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1441	20	0	1	0
chr11	6601351	6601351	G	C	exonic	RRP8	.	nonsynonymous SNV	RRP8:NM_015324:exon3:c.C715G:p.R239G,	.	.	427	1093	2	0	0	2	0.000914077	.	.	2346432	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.988	D	0.891	P	0.000	D	1.000	D	0.805	L	0.9	T	-0.878	T	0.143	T	0.83	2.796	15.31	3.83	1.439	1.119	13.498	0.262	0.0443912716887	.	.	1.702e-05	0	0	0	0	1.546e-05	0.0011	0	1.29e-05	2	154602	rs745570524	2.121e-05	2.121e-05	1.77e-05	2.476e-05	0.0002	1.52e-05	1.324e-05	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	2.068e-05	3.312e-05	5.798e-05	2.628e-05	2.627e-05	2.569e-05	2.69e-05	6.543e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.543e-05	0	0	0	0	4.41e-05	0	0	0.007	0.59928	D	0.016	0.60972	D	0.988	0.62325	D	0.891	0.63213	P	0.000000	0.84330	D	0.000000	0.998366	0.81001	D	2.275	0.64647	M	0.9	0.45248	T	-3.96	0.73579	D	0.808	0.80375	-0.8781	0.49911	T	0.143	0.46459	T	10	0.8013315	0.79531	D	0.044391	0.61467	D	0.262	0.57482	0.569	0.69167	0.685535075557	0.68284	0.5356010848600614	0.53485	0.143228198031	0.16158	0.579995334148	0.50085	T	0.105549	0.41611	T	-0.00973925	0.50303	T	-0.0702383	0.65610	T	0.852301597595215	0.50365	D	0.823618	0.48435	T	0.706978	0.78441	0.5958223	0.76534	0.706978	0.78443	0.5958223	0.76535	-8.827	0.66576	D	.	.	0.533	0.66042	A	.	.	3.431331	0.47690	22.5	0.9987212977886788	0.94989	0.90462	0.51658	D	AEFDBCI	0.368658	0.45567	N	0.279356658318835	0.55104	3.674664	0.272344023070298	0.53931	3.559799	0.999957181524727	0.48110	0.732398	0.92422	0	0.672317	0.65289	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.85	3.83	0.43287	1.079000	0.30378	4.277000	0.42867	0.676000	0.76740	0.855000	0.30528	1.000000	0.68203	0.286000	0.24163	0.0:0.0:0.7164:0.2836	13.498	0.60891	489	0.76795	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1746.98	126	chr11	6601351	.	G	C	1746.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.15;DP=1034;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.86;ReadPosRankSum=0.603;SOR=0.733	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1488	20	0	1	0
chr11	6609133	6609133	C	T	exonic	ILK	.	nonsynonymous SNV	ILK:NM_001014795:exon6:c.C595T:p.L199F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.013	B	0.054	B	0.000	D	1.000	D	1.925	M	-3.3	D	0.387	D	0.763	D	0.442	2.562	14.53	5.14	2.658	2.169	17.762	0.520	0.131687766723	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs752409651	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	6.57e-06	6.566e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.065	0.36310	T	0.088	0.40586	T	0.013	0.16609	B	0.054	0.25828	B	0.000018	0.62929	D	0.113733	0.999998	0.81001	D	2.76	0.80626	M	-3.3	0.93787	D	-2.32	0.51478	N	0.518	0.54845	0.387	0.88900	D	0.763	0.91943	D	10	0.5930804	0.66489	D	0.131688	0.81395	D	0.520	0.79583	0.794	0.91511	0.946055683232	0.94548	0.4018575831013763	0.40101	0.33366769303	0.35401	0.537844181061	0.44141	T	0.676429	0.90452	D	0.155832	0.69813	D	-0.0139345	0.69427	D	0.962533116340637	0.66396	D	0.928407	0.73561	D	0.44646436	0.63817	0.29157948	0.55183	0.44646436	0.63817	0.29157948	0.55182	-6.832	0.55717	T	.	.	0.518	0.65377	A	.;.;.;.;.	.;.;.;.;.	3.440857	0.47869	22.5	0.99655511122445706	0.77568	0.86403	0.45676	D	AEFBCI	0.502211	0.53472	D	0.0784537683439043	0.45458	2.802052	0.222979084681934	0.51124	3.297787	0.999999454376115	0.74766	0.722319	0.85440	0	0.697927	0.68747	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.14	5.14	0.70008	1.745000	0.37904	4.957000	0.46318	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	17.762	0.88375	503	0.75780	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Integrin-linked protein kinase, pseudokinase domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Integrin-linked protein kinase, pseudokinase domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Integrin-linked protein kinase, pseudokinase domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Integrin-linked protein kinase, pseudokinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2317.98	38	chr11	6609133	.	C	T	2317.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.643e+00;DP=1373;ExcessHet=0.0000;FS=2.034;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.22;ReadPosRankSum=0.638;SOR=0.876	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	20	0	1	0
chr11	6632964	6632964	G	A	exonic	DCHS1	.	nonsynonymous SNV	DCHS1:NM_003737:exon6:c.C2548T:p.R850C,	Mitral valve prolapse 2, Autosomal dominant;Van Maldergem syndrome 1, Autosomal recessive	.	424	1095	3	0	0	3	0.00136799	.	.	1187771	Inborn_genetic_diseases|DCHS1-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.002	B	0.001	B	0.004	N	0.991	D	3.575	H	0.56	T	-0.644	T	0.237	T	0.187	0.573	7.094	2.85	0.715	2.619	10.299	0.177	0.0492234256531	0.0003	0.00179712	0.0012	0.0024	8.667e-05	0.0003	0	1.505e-05	0.0011	0.0069	0.0010479	162	154602	rs79559386	0.0005	0.0005	0.0003	0.0007	0.0066	0.0005	0.0005	0.0061	0.0059	0.0027	6.708e-05	0	0	0	0.0010	1.619e-05	0.0007	0.0066	0.0009	0.0010	0.0008	0.0011	0.0079	0.0008	0.0008	0.0059	0.0052	0.0025	0	6.533e-05	0	0.0002	0	0	0	0.0009	0.0079	0.034	0.44029	D	0.044	0.49663	D	0.002	0.09854	B	0.001	0.04355	B	0.004185	0.34013	N	0.135740	0.991154	0.41320	D	2.825	0.82220	M	0.56	0.54540	T	-3.09	0.63438	D	0.294	0.33250	-0.6439	0.62979	T	0.237	0.60487	T	10	0.011422902	0.00250	T	0.049223	0.63719	D	0.177	0.44549	.	.	0.391520894214	0.38767	0.40940102527554945	0.40856	0.392951953292	0.40477	0.403489172459	0.25554	T	0.370323	0.73488	T	-0.474293	0.00799	T	-0.450759	0.27613	T	0.0661522035845533	0.08100	T	0.80392	0.45144	T	0.2043984	0.42548	0.15819551	0.36955	0.2043984	0.42548	0.15819551	0.36954	-9.492	0.70809	D	.	.	0.309	0.53671	B	.	.	3.805950	0.54866	23.5	0.94475344268276951	0.24927	0.96566	0.69781	D	AEFBI	0.406362	0.47888	N	-0.286009887344789	0.29688	1.648595	-0.270336427048827	0.29081	1.626442	0.901071023559853	0.26092	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.71	2.85	0.32333	2.398000	0.44140	8.558000	0.77555	-0.127000	0.13314	1.000000	0.71638	1.000000	0.68203	0.611000	0.31665	0.1608:0.0:0.8392:0.0	10.299	0.42823	231	0.90996	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2483.98	35	chr11	6632964	.	G	A	2483.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.949e+00;DP=976;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.65;ReadPosRankSum=1.23;SOR=0.731	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,114,1765	20	0	1	0
chr11	6768747	6768747	G	A	exonic	OR2AG2	.	nonsynonymous SNV	OR2AG2:NM_001004490:exon1:c.C211T:p.L71F,	.	.	429	1085	8	0	0	8	0.00367309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.343	B	0.216	B	0.001	D	1.000	N	1.695	L	4.4	T	-1.010	T	0.010	T	0.382	1.716	11.70	3.23	1.316	-0.201	9.440	0.086	0.00314131228746	0.0002	0.000199681	0.0005	0	0	0	0	0.0003	0	0.0025	0.0004204	65	154602	rs145367863	0.0003	0.0003	0.0002	0.0004	0.0061	0.0003	0.0003	0.0045	0.0039	5.974e-05	8.944e-05	0.0008	0	0	0.0061	0.0001	0.0004	0.0024	0.0003	0.0003	0.0003	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	2.407e-05	0	0.0005	0.0006	0	0	0.0068	0.0003	0.0009	0.0021	0.071	0.35165	T	0.017	0.60337	D	0.343	0.33512	B	0.216	0.37572	B	0.000564	0.43250	D	0.000000	0.999973	0.18612	N	1.875	0.49914	L	4.4	0.02215	T	-1.98	0.45769	N	0.282	0.31925	-1.0097	0.27012	T	0.010	0.03811	T	10	0.0124183595	0.00267	T	0.003141	0.06845	T	0.086	0.25016	.	.	0.269111216191	0.26524	0.3062234912750719	0.30535	0.0217442256997	0.02172	0.282580137253	0.07855	T	0.01085	0.09750	T	-0.511871	0.00490	T	-0.514828	0.20821	T	0.683037340641022	0.39927	D	0.751925	0.37414	T	0.17093031	0.37697	0.17572166	0.40058	0.17093031	0.37697	0.17572166	0.40057	-6.608	0.51115	T	.	.	0.145	0.34227	B	.;.;.	.;.;.	3.228438	0.44022	21.8	0.99366390325766107	0.61240	0.09382	0.15149	N	AEFGBI	0.064473	0.12520	N	-0.253140008029817	0.30979	1.732528	-0.24857042028347	0.29821	1.673878	1.70856277862134E-4	0.05721	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.15	3.23	0.36150	0.084000	0.14738	-20.000000	0.00162	0.661000	0.55757	0.004000	0.16614	0.000000	0.08366	0.500000	0.29017	0.0:0.0:0.6135:0.3865	9.440	0.37825	496	0.76301	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2530.98	201	chr11	6768747	.	G	A	2530.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.88;DP=1984;ExcessHet=0.0000;FS=0.518;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.88;MQRankSum=0.491;QD=12.59;ReadPosRankSum=0.763;SOR=0.766	GT:AD:DP:GQ:PL	0/0:172,0:172:99:0,120,1800	20	0	1	0
chr11	6785743	6785743	A	T	exonic	OR2AG1	.	stopgain	OR2AG1:NM_001004489:exon1:c.A706T:p.K236X,	.	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	4.441	23.6	4.32	1.956	4.695	11.793	.	.	.	0.00519169	0.0023	9.612e-05	8.655e-05	0.0002	0	0	0.0011	0.0164	0.0019728	305	154602	rs201084796	0.0009	0.0009	0.0005	0.0013	0.0137	0.0008	0.0008	0.0131	0.0128	5.974e-05	0	0	0	0	0.0007	6.295e-06	0.0014	0.0137	0.0005	0.0006	0.0004	0.0007	0.0168	0.0004	0.0004	0.0138	0.0128	0	0	6.539e-05	0	0.0002	0	0	0	0	0.0168	.	.	.	.	.	.	.	.	.	.	.	.	0.000049	0.53742	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.237	0.26717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275197	0.80900	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;Low	9.664386	0.99190	42	0.99581336188606528	0.73040	0.97336	0.74107	D	AEFGI	0.051799	0.09188	N	0.759485635637196	0.83520	8.039226	0.606721467052145	0.75427	6.309	0.0645296332975208	0.15332	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.32	4.32	0.50899	4.080000	0.57342	10.807000	0.83807	0.713000	0.85321	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	11.793	0.51352	507	0.75469	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3373.98	204	chr11	6785743	.	A	T	3373.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.470e+00;DP=2445;ExcessHet=0.0000;FS=2.170;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.94;MQRankSum=1.04;QD=14.00;ReadPosRankSum=0.099;SOR=0.618	GT:AD:DP:GQ:PL	0/0:228,0:228:99:0,120,1800	20	0	1	0
chr11	6794951	6794951	A	G	exonic	OR6A2	.	nonsynonymous SNV	OR6A2:NM_003696:exon1:c.T758C:p.V253A,	.	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.819	P	0.429	B	0.000	D	1.000	N	3.2	M	7.84	T	-1.011	T	0.001	T	0.634	3.387	17.43	5.07	2.265	3.779	13.121	0.149	0.00410013057546	0.0025	0.00139776	0.0009	0.0070	0.0003	0	0	0.0001	0	0.0013	0.0008215	127	154602	rs114528778	0.0004	0.0004	0.0004	0.0004	0.0084	0.0004	0.0004	0.0076	0.0073	0.0084	0.0003	0.0003	2.519e-05	0	0.0014	8.184e-05	0.0009	0.0013	0.0023	0.0023	0.0024	0.0023	0.0078	0.0021	0.0020	0.0071	0.0068	0.0078	0	0.0005	0.0009	0	0	0	0.0001	0.0019	0.0012	0.005	0.63226	D	0.006	0.70582	D	0.819	0.45682	P	0.429	0.45365	B	0.000122	0.49741	D	0.000000	0.999934	0.19363	N	3.215	0.89331	M	7.84	0.00333	T	-3.64	0.69835	D	0.473	0.50868	-1.0114	0.26478	T	0.001	0.00438	T	10	0.0052567124	0.00115	T	0.004	0.09806	T	0.149	0.39377	.	.	0.367612772649	0.36367	0.2741561364845022	0.27328	0.00738871656898	0.00648	0.447486013174	0.31601	T	0.017272	0.14121	T	-0.382232	0.03016	T	-0.315994	0.43012	T	0.10390255810276	0.12781	T	0.848615	0.53011	T	0.5361222	0.69178	0.52666247	0.72652	0.5361222	0.69179	0.52666247	0.72653	-8.975	0.67536	D	.	.	0.425	0.61892	A	.;.	.;.	2.827915	0.37270	20.5	0.99802319803694062	0.88728	0.60596	0.31240	D	AEFHCI	0.226378	0.35034	N	0.314426019975965	0.56888	3.854391	0.232622405147015	0.51667	3.347205	0.0648856824208523	0.15343	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.07	5.07	0.68106	3.235000	0.51027	8.989000	0.78507	0.756000	0.94297	0.043000	0.21118	1.000000	0.68203	0.908000	0.44358	1.0:0.0:0.0:0.0	13.121	0.58741	539	0.73055	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1524.98	35	chr11	6794951	.	A	G	1524.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.884;DP=868;ExcessHet=0.0000;FS=3.234;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=-6.180e-01;SOR=0.433	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	20	0	1	0
chr11	6892050	6892050	T	C	exonic	OR2D2	.	nonsynonymous SNV	OR2D2:NM_003700:exon1:c.A451G:p.S151G,	.	.	434	1057	31	0	0	31	0.0144522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.784	P	0.527	P	0.000	D	0.997	N	0.89	L	1.24	T	-1.062	T	0.056	T	0.156	2.054	12.83	5.12	2.291	0.025	8.541	0.093	0.003817604036	0.0042	0.00179712	0.0040	0.0011	0.0033	0.0001	0.0020	0.0048	0.0055	0.0059	0.0038357	593	154602	rs74917712	0.0047	0.0047	0.0046	0.0048	0.0134	0.0046	0.0046	0.0110	0.0101	0.0008	0.0039	0.0093	2.519e-05	0.0019	0.0134	0.0049	0.0049	0.0062	0.0039	0.0039	0.0038	0.0040	0.0061	0.0036	0.0035	0.0051	0.0048	0.0010	0	0.0061	0.0104	0.0004	0.0018	0.0034	0.0053	0.0061	0.0050	0.132	0.26519	T	0.271	0.22291	T	0.784	0.44396	P	0.527	0.48453	P	0.000019	0.62929	D	0.000000	0.996695	0.22933	N	1	0.25136	L	1.24	0.36691	T	-3.59	0.69236	D	0.09	0.06854	-1.0621	0.11239	T	0.056	0.23677	T	10	0.009351373	0.00211	T	0.003818	0.08930	T	0.093	0.26882	.	.	0.667396578862	0.66459	0.22614904341023914	0.22529	0.0160720979478	0.01538	0.267553925514	0.05824	T	0.007197	0.06615	T	-0.551367	0.00286	T	-0.562996	0.16097	T	0.0497815433916849	0.05462	T	0.60064	0.22426	T	0.36737594	0.58390	0.2915325	0.55178	0.36737594	0.58390	0.2915325	0.55177	-4.217	0.26997	T	.	.	0.072	0.04316	B	.	.	2.830404	0.37313	20.5	0.99226097246895772	0.56057	0.10633	0.16084	N	AEFGBI	0.062217	0.11946	N	-0.0295373959221345	0.40522	2.407833	0.00228593108559329	0.39823	2.367003	0.0155712046616577	0.12730	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.12	5.12	0.69459	0.196000	0.16979	0.182000	0.15643	0.646000	0.52725	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.1719:0.0:0.0:0.8281	8.541	0.32551	502	0.75873	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	6005.68	44	chr11	6892050	.	T	C	6005.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.734e+00;DP=1982;ExcessHet=0.3300;FS=0.519;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=0.592;SOR=0.745	GT:AD:DP:GQ:PL	0/0:191,0:191:99:0,120,1800	18	0	3	0
chr11	6892142	6892142	T	C	exonic	OR2D2	.	nonsynonymous SNV	OR2D2:NM_003700:exon1:c.A359G:p.Y120C,	.	.	431	1088	2	0	1	3	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.134	B	0.093	B	0.009	N	0.854	N	2.815	M	7.03	T	-1.068	T	0.002	T	0.325	2.197	13.30	2.9	0.535	1.065	8.409	0.130	0.00605135480922	.	.	1.649e-05	0	8.72e-05	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs111868178	2.874e-05	2.873e-05	2.314e-05	3.438e-05	8.966e-05	2.152e-05	1.908e-05	2.376e-05	1.942e-05	8.966e-05	0	0	2.519e-05	1.872e-05	0	3.058e-05	4.968e-05	0	3.944e-05	3.938e-05	5.144e-05	2.689e-05	7.227e-05	1.716e-05	1.13e-05	1.916e-05	1.031e-05	7.227e-05	0	0	0	0	0	0	4.413e-05	0	0	0.01	0.56456	D	0.014	0.62352	D	0.134	0.27266	B	0.093	0.30104	B	0.009463	0.30346	N	0.154928	0.853905	0.28456	N	3.265	0.90016	M	7.03	0.00453	T	-8.22	0.96854	D	0.156	0.16168	-1.0682	0.09813	T	0.002	0.00707	T	10	0.2600271	0.43447	T	0.006051	0.15816	T	0.130	0.35528	0.326	0.30873	0.56524285216	0.56187	0.36101034003631094	0.36015	0.0219589980584	0.02200	0.296510279179	0.09882	T	0.008184	0.07532	T	-0.27951	0.10720	T	-0.457745	0.26847	T	0.306865969734727	0.25286	T	0.59464	0.22023	T	0.44259176	0.63569	0.43089992	0.66725	0.44259176	0.63570	0.43089992	0.66725	-6.946	0.53639	T	.	.	0.117	0.23814	B	.	.	2.642124	0.34385	19.61	0.99077777158689462	0.51882	0.92064	0.54865	D	AEFBI	0.317323	0.42135	N	-0.0451652221761346	0.39818	2.354408	0.010355112252671	0.40194	2.394975	3.44659258082262E-4	0.06626	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.23	2.9	0.32809	2.248000	0.42812	-0.251000	0.10506	-0.130000	0.13190	1.000000	0.71638	0.001000	0.17328	0.994000	0.71098	0.0:0.1627:0.0:0.8373	8.409	0.31791	502	0.75873	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2487.98	44	chr11	6892142	.	T	C	2487.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.48;DP=1017;ExcessHet=0.0000;FS=5.153;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.09;ReadPosRankSum=0.794;SOR=0.429	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	20	0	1	0
chr11	6941607	6941607	G	A	exonic	ZNF215	.	nonsynonymous SNV	ZNF215:NM_001354854:exon3:c.G437A:p.S146N	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.001	B	0.001	B	0.889	N	1.000	N	1	L	5.89	T	-0.956	T	0.011	T	0.013	0.169	4.909	-4.85	-1.657	-1.153	2.740	0.031	0.00166301673103	.	0.000199681	0.0002	0	0	0	0	0	0	0.0015	0.0001682	26	154602	rs566216656	9.783e-05	9.782e-05	4.22e-05	0.0002	0.0016	8.444e-05	7.922e-05	0.0014	0.0013	0	0	0	0	0	0	0	4.968e-05	0.0016	4.595e-05	4.593e-05	1.285e-05	8.054e-05	0.0015	2.107e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.137	0.25979	T	0.106	0.37872	T	0.0	0.02946	B	0.0	0.01387	B	0.888840	0.08702	N	0.943069	1	0.08975	N	1.55	0.39271	L	3.35	0.05989	T	-0.62	0.18248	N	0.045	0.01911	-0.9562	0.39879	T	0.011	0.04321	T	10	0.007712543	0.00175	T	0.001663	0.02728	T	0.031	0.07369	0.14	0.04369	0.163833314356	0.15978	0.054499116767162625	0.05391	0.00602193082573	0.00527	0.285837680101	0.08319	T	0.001403	0.00865	T	-0.755758	0.00016	T	-0.8716	0.00727	T	0.0189767772127643	0.00606	T	0.264174	0.04286	T	0.02593043	0.01587	0.04296043	0.05238	0.02593043	0.01586	0.04296043	0.05237	-3.711	0.19481	T	.	.	0.147	0.32348	B	.;.;.;.	.;.;.;.	-0.533071	0.01763	0.134	0.43922878360708179	0.03341	0.00781	0.03206	N	AEFBI	0.026928	0.02111	N	-1.57373853308554	0.01401	0.06107768	-1.67084737052575	0.01272	0.05734357	0.990746499214869	0.32255	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.668105	0.65232	0	.	.	4.32	-4.85	0.02911	-0.924000	0.04104	-0.372000	0.09600	-0.163000	0.11536	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.447:0.114:0.3236:0.1153	2.740	0.04928	758	0.50837	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1056.98	33	chr11	6941607	.	G	A	1056.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.160e-01;DP=755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.10;ReadPosRankSum=0.146;SOR=0.725	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1212	20	0	1	0
chr11	6955753	6955753	G	A	exonic	ZNF215	.	nonsynonymous SNV	ZNF215:NM_001354858:exon5:c.G62A:p.S21N	.	.	431	1072	18	1	0	20	0.00924214	.	.	724686	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.6	T	0.005	B	0.004	B	0.105	N	1.000	N	0.55	N	5.98	T	-0.930	T	0.006	T	0.017	0.552	6.987	-3.19	-0.731	1.119	6.170	0.091	0.00335947118768	0.0048	0.00259585	0.0051	0.0007	0.0008	0	0.0014	0.0068	0.0068	0.0090	0.005084	786	154602	rs117380100	0.0071	0.0071	0.0069	0.0073	0.0085	0.0070	0.0069	0.0080	0.0078	0.0011	0.0019	0.0029	5.042e-05	0.0019	0.0026	0.0080	0.0063	0.0085	0.0048	0.0048	0.0052	0.0043	0.0081	0.0045	0.0044	0.0076	0.0073	0.0012	0	0.0039	0.0026	0.0002	0.0019	0	0.0081	0.0019	0.0056	1.0	0.14996	T	0.469	0.22627	T	0.002	0.09854	B	0.001	0.04355	B	0.104610	0.19695	N	0.433192	1	0.08975	N	1.04	0.26193	L	3.43	0.05440	T	0.11	0.16598	N	0.031	0.03069	-0.9299	0.44153	T	0.006	0.02055	T	10	0.00449273	0.00092	T	0.003359	0.07512	T	0.091	0.26358	.	.	0.16115917748	0.15686	0.043645999254215855	0.04309	0.00603255070082	0.00527	0.231196716428	0.02058	T	0.006857	0.06286	T	-0.709607	0.00032	T	-0.784544	0.02319	T	0.00592771506031169	0.00065	T	0.558444	0.19458	T	0.053430177	0.10111	0.053148706	0.08897	0.053430177	0.10111	0.053148706	0.08897	-2.072	0.15628	T	.	.	0.161	0.35622	B	.;.;.;.	.;.;.;.	-0.038965	0.04020	0.921	0.72682063954151532	0.10058	0.03658	0.08916	N	AEFBI	0.044508	0.07168	N	-1.23296579859464	0.04529	0.2045956	-1.30918365524752	0.04310	0.2030405	0.889148847577553	0.25806	0.651	0.46895	0	0.670034	0.63936	0	0.65145	0.50148	0	0.655142	0.61905	0	.	.	3.56	-3.19	0.04853	1.057000	0.30102	0.658000	0.20477	0.676000	0.76740	0.004000	0.16614	0.012000	0.20211	0.034000	0.13613	0.5759:0.1484:0.2757:0.0	6.170	0.19623	769	0.49307	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1453.98	33	chr11	6955753	.	G	A	1453.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.011e+00;DP=821;ExcessHet=0.0000;FS=0.653;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.85;ReadPosRankSum=0.741;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1107	20	0	1	0
chr11	6984177	6984177	C	T	exonic	ZNF215	.	nonsynonymous SNV	ZNF215:NM_001354854:exon7:c.C854T:p.S285L,	.	.	574	947	1	0	0	1	0.000527704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.829	P	0.32	B	.	.	1.000	N	.	.	5.84	T	-0.848	T	0.002	T	0.074	-2.552	0.003	0.149	0.192	0.212	.	0.029	0.00357091111485	.	0.000199681	0.0029	0	0	0	.	0	0	0.0045	0.0001358	21	154602	rs544923873	0.0007	0.0003	0.0003	0.0009	0.0030	0.0006	0.0005	0.0025	0.0024	0	0	0	0	0	0	4.956e-05	9.972e-05	0.0030	6.603e-05	6.576e-05	3.869e-05	9.471e-05	0.0019	3.533e-05	2.628e-05	0.0010	0.0007	2.421e-05	0	0	0	0	0	0	0	0	0.0019	0.014	0.53172	D	0.833	0.03685	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.84	0.00647	T	-0.34	0.12661	N	0.196	0.21580	-0.8476	0.52134	T	0.002	0.00707	T	7	0.010142028	0.00227	T	0.003571	0.08154	T	0.029	0.06676	0.451	0.51285	0.202086224978	0.19791	.	.	.	.	.	.	.	.	.	.	-0.680536	0.00048	T	-0.755246	0.03285	T	0.0644185772420052	0.07845	T	0.463454	0.13490	T	.	.	.	.	.	.	.	.	-3.38	0.14788	T	.	.	0.092	0.13690	B	.;.	.;.	0.773046	0.11430	8.039	0.081326982851089497	0.00058	0.00201	0.01154	N	AEFI	0.020695	0.00843	N	-0.793608252475571	0.13476	0.6641243	-1.04103361128004	0.08894	0.439634	0.198776666229778	0.18095	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	0.149	0.149	0.14158	0.212000	0.17289	0.297000	0.16936	0.243000	0.18268	0.002000	0.15269	0.001000	0.17328	0.002000	0.04165	.	.	.	794	0.45591	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	262.34	28	chr11	6984177	.	C	T	262.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.96;DP=567;ExcessHet=0.0000;FS=1.519;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=7.72;ReadPosRankSum=0.976;SOR=1.179	GT:AD:DP:GQ:PL	0/0:29,0:29:75:0,75,1125	19	0	1	1
chr11	7089223	7089223	G	A	exonic	RBMXL2	.	nonsynonymous SNV	RBMXL2:NM_014469:exon1:c.G103A:p.V35I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.048	B	0.052	B	0.424	N	1.000	N	1.04	L	-1.85	D	-0.820	T	0.313	T	0.081	0.540	6.923	-4.78	-1.351	1.068	3.255	0.123	0.0238144384479	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1399837056	2.054e-06	2.052e-06	1.362e-06	2.752e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.322	0.13479	T	0.533	0.10000	T	0.048	0.22112	B	0.052	0.25551	B	0.424363	0.12830	N	0.711267	1	0.08975	N	1.475	0.37068	L	-1.85	0.84267	D	-0.19	0.09965	N	0.075	0.04913	-0.8200	0.53933	T	0.313	0.68282	T	10	0.06692314	0.09249	T	0.023814	0.46796	T	0.123	0.34020	0.402	0.43245	0.171220215726	0.16700	0.16772957478102746	0.16692	0.809954221339	0.66686	0.282779037952	0.07883	T	0.003817	0.03222	T	-0.1524	0.27935	T	-0.441202	0.28672	T	0.0704431235790253	0.08713	T	0.738526	0.35642	T	0.08316938	0.19193	0.062080823	0.12090	0.08316938	0.19193	0.062080823	0.12089	-8.23	0.62627	D	.	.	0.084	0.09578	B	.	.	1.781396	0.22647	15.71	0.91926431805824727	0.21250	0.20856	0.21193	N	AEFDBI	0.034362	0.04242	N	-0.87966359766301	0.11327	0.5460445	-0.913032978874451	0.11786	0.60257	0.00479497694439131	0.10715	0.525926	0.21836	0	0.547309	0.14657	0	0.578056	0.29568	0	0.584449	0.35598	0	.	.	2.39	-4.78	0.02975	0.691000	0.25147	0.301000	0.16978	0.656000	0.54149	0.584000	0.27618	0.000000	0.08366	0.996000	0.76049	0.5081:0.0:0.1867:0.3052	3.255	0.06424	686	0.59327	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3664.98	43	chr11	7089223	.	G	A	3664.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=1327;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=0.942;SOR=0.701	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,116,1233	20	0	1	0
chr11	7488155	7488155	C	T	exonic	OLFML1	.	nonsynonymous SNV	OLFML1:NM_001370501:exon2:c.C158T:p.T53M	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.893	P	0.007	N	1.000	D	1.935	M	-2.37	D	0.486	D	0.695	D	0.352	6.030	37	5.76	2.727	1.470	15.468	0.381	0.0744318907498	0.0035	0.00119808	0.0033	0.0003	0.0022	0.0001	0.0018	0.0050	0.0044	0.0014	0.003357	519	154602	rs141351486	0.0039	0.0040	0.0039	0.0040	0.0047	0.0039	0.0038	0.0046	0.0045	0.0004	0.0019	0.0005	7.577e-05	0.0023	0.0009	0.0047	0.0025	0.0019	0.0029	0.0029	0.0031	0.0027	0.0050	0.0027	0.0026	0.0046	0.0044	0.0006	0	0.0018	0	0.0002	0.0024	0	0.0050	0.0014	0.0029	0.006	0.61437	D	0.118	0.36233	T	0.999	0.77913	D	0.893	0.63340	P	0.007169	0.31557	N	0.312904	0.90867	0.81001	D	2.3	0.65703	M	-2.37	0.88220	D	-1.57	0.37955	N	0.138	0.13626	0.486	0.90353	D	0.695	0.89499	D	10	0.0083782375	0.00190	T	0.074432	0.72040	D	0.381	0.69863	.	.	0.834664510851	0.83308	0.4450700977327562	0.44425	0.0302393628944	0.03118	0.390642702579	0.23760	T	0.005727	0.05178	T	-0.157893	0.27084	T	0.00261665	0.70505	D	0.0119953741734701	0.00189	T	0.718628	0.33152	T	0.059298266	0.12034	0.11526132	0.27824	0.059298266	0.12033	0.11526132	0.27823	-6.094	0.47059	T	.	.	0.151	0.33435	B	.;.	.;.	3.540780	0.49724	22.8	0.99706995143598653	0.81074	0.44276	0.27283	N	AEFBI	0.803421	0.72857	D	0.533007235476481	0.69054	5.302826	0.5033264236078	0.68216	5.189223	0.999999886065036	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.76	5.76	0.90726	1.800000	0.38469	2.234000	0.31556	0.599000	0.40250	0.595000	0.27706	0.978000	0.30204	0.959000	0.51448	0.0:1.0:0.0:0.0	15.468	0.75146	783	0.47268	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	999.98	35	chr11	7488155	.	C	T	999.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.070e-01;DP=775;ExcessHet=0.0000;FS=2.075;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.08;ReadPosRankSum=0.261;SOR=0.478	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,114,1710	20	0	1	0
chr11	7630993	7630993	A	G	exonic	PPFIBP2	.	nonsynonymous SNV	PPFIBP2:NM_001256569:exon7:c.A604G:p.T202A	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	T	0.0	B	0.001	B	0.327	N	1.000	N	0.895	L	-0.32	T	-0.994	T	0.051	T	0.176	-1.065	0.178	-5.22	-0.768	-1.011	4.28	0.006	.	7.7e-05	0.00259585	0.0009	0	8.654e-05	0.0001	0	0	0.0011	0.0063	0.0007956	123	154602	rs147867678	0.0004	0.0004	0.0003	0.0006	0.0066	0.0004	0.0004	0.0061	0.0059	0	4.472e-05	0	0	0	0.0003	5.397e-06	0.0006	0.0066	0.0002	0.0002	0.0001	0.0004	0.0070	0.0002	0.0002	0.0052	0.0045	0	0	0	0	0.0002	0	0	0	0.0005	0.0070	0.503	0.11550	T	0.86	0.03409	T	0.0	0.02946	B	0.0	0.01387	B	0.327261	0.04109	N	1.404700	1	0.08975	N	0.145	0.08828	N	-0.32	0.68181	T	-0.67	0.19297	N	0.098	0.08227	-0.9936	0.31670	T	0.051	0.21728	T	10	0.0060495734	0.00136	T	.	.	.	0.073	0.21317	.	.	0.538561335957	0.53506	0.1451735567604721	0.14440	0.0279714721971	0.02869	0.322181761265	0.13752	T	0.006638	0.06067	T	-0.538301	0.00343	T	-0.541864	0.18113	T	0.00323089880443248	0.00034	T	0.628437	0.24942	T	0.017939249	0.00317	0.020961206	0.00165	0.017939249	0.00317	0.020961206	0.00165	-2.641	0.07120	T	.	.	0.057	0.00553	B	.;.;.;.	.;.;.;.	-0.275780	0.02725	0.360	0.26378565490949096	0.01261	0.00547	0.02511	N	AEFBI	0.043224	0.06807	N	-1.15012711567626	0.05777	0.2642804	-1.28515461451502	0.04630	0.2188683	0.802211486884024	0.24206	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	6.17	-5.22	0.02592	-0.935000	0.04059	-0.488000	0.08877	-0.687000	0.04166	0.000000	0.06391	0.000000	0.08366	0.237000	0.22922	0.4975:0.0975:0.3062:0.0988	4.28	0.10274	839	0.37672	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1057.98	37	chr11	7630993	.	A	G	1057.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.124;DP=769;ExcessHet=0.0000;FS=1.998;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.33;ReadPosRankSum=0.626;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1424	20	0	1	0
chr11	7631009	7631009	A	C	exonic	PPFIBP2	.	nonsynonymous SNV	PPFIBP2:NM_001256569:exon7:c.A620C:p.E207A	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.264	B	0.107	B	0.037	N	0.816	D	0.69	N	-0.41	T	-0.901	T	0.116	T	0.556	2.500	14.32	5.05	2.371	1.683	7.775	0.256	.	7.7e-05	0.00299521	0.0009	9.632e-05	8.658e-05	0.0001	0	0	0.0011	0.0063	0.0008215	127	154602	rs141555648	0.0004	0.0004	0.0003	0.0006	0.0065	0.0004	0.0004	0.0061	0.0059	2.988e-05	4.472e-05	0	0	0	0.0003	1.8e-06	0.0006	0.0065	0.0003	0.0003	0.0001	0.0004	0.0070	0.0002	0.0002	0.0052	0.0045	7.214e-05	0	0	0	0.0002	0	0	0	0.0005	0.0070	0.19	0.33418	T	0.534	0.14912	T	0.172	0.28767	B	0.034	0.22546	B	0.037385	0.24408	N	0.428519	0.686163	0.34701	D	1.935	0.51832	L	-0.41	0.69413	T	-0.97	0.25770	N	0.238	0.30800	-0.9008	0.47910	T	0.116	0.41120	T	10	0.0065229535	0.00148	T	.	.	.	0.256	0.56694	.	.	0.767332750182	0.76520	0.1872317281989996	0.18641	0.0535589195105	0.05910	0.362885415554	0.19805	T	0.006931	0.06354	T	-0.318942	0.06985	T	-0.226909	0.52069	T	0.0206220379021904	0.00762	T	0.813219	0.48193	T	0.05501827	0.10634	0.041320316	0.04671	0.05501827	0.10634	0.041320316	0.04670	-3.905	0.22377	T	.	.	0.086	0.16538	B	.;.;.;.	.;.;.;.	3.442841	0.47899	22.5	0.98058304436914734	0.37929	0.72268	0.35379	D	AEFBI	0.166364	0.29294	N	0.078326342974546	0.45453	2.801566	0.168502882648835	0.48130	3.033205	0.868863035036288	0.25374	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	6.17	5.05	0.67566	1.937000	0.39821	7.945000	0.75661	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.951000	0.49849	0.8826:0.0:0.1174:0.0	7.775	0.28199	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1013.98	37	chr11	7631009	.	A	C	1013.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.492;DP=762;ExcessHet=0.0000;FS=0.979;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.35;ReadPosRankSum=0.850;SOR=0.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1424	20	0	1	0
chr11	7666504	7666504	C	T	exonic	CYB5R2	.	nonsynonymous SNV	CYB5R2:NM_001302827:exon7:c.G601A:p.G201R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.105	N	1.000	N	-0.2	N	-1.96	D	-0.774	T	0.177	T	0.144	-0.942	0.356	-5.02	-0.785	-0.691	2.438	0.148	0.0259501489009	0.0002	.	1.648e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs139640867	5.885e-05	6.088e-05	6.4e-05	5.365e-05	7.377e-05	4.878e-05	4.498e-05	6.061e-05	5.57e-05	0	0	0	0	0	0	7.377e-05	3.312e-05	2.319e-05	5.258e-05	5.253e-05	7.71e-05	2.691e-05	0.0001	2.558e-05	1.831e-05	5.842e-05	4.24e-05	0	0	0	0	0	0	0	0.0001	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.105461	0.19658	N	0.576442	1	0.08975	N	-0.84	0.01504	N	-1.96	0.85091	D	0.46	0.03140	N	0.131	0.12627	-0.7741	0.56631	T	0.177	0.52272	T	10	0.023643106	0.00625	T	0.02595	0.48891	D	0.148	0.39182	.	.	0.430923071578	0.42714	0.5369725146401934	0.53622	0.00655855936216	0.00574	0.224274039268	0.01571	T	0.032446	0.22488	T	-0.226912	0.17060	T	-0.466866	0.25853	T	0.0224188062577273	0.00956	T	0.661134	0.28519	T	0.05722203	0.11359	0.03636597	0.03068	0.05722203	0.11359	0.03636597	0.03068	-3.5	0.16431	T	.	.	0.097	0.15698	B	.;.;.	.;.;.	0.147810	0.05405	1.882	0.54134606940262286	0.05077	0.06403	0.12406	N	AEFDGBCI	0.087962	0.17834	N	-1.65826300454034	0.01001	0.04338034	-1.62316453384377	0.01520	0.06884785	0.999982619486172	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	5.69	-5.02	0.02759	-0.698000	0.05194	-0.619000	0.08183	-0.974000	0.01926	0.000000	0.06391	0.000000	0.08366	0.768000	0.36443	0.1174:0.1585:0.2454:0.4786	2.438	0.04213	692	0.58729	.;Oxidoreductase FAD/NAD(P)-binding;Oxidoreductase FAD/NAD(P)-binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	571.98	40	chr11	7666504	.	C	T	571.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.270e-01;DP=885;ExcessHet=0.0000;FS=0.952;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.94;ReadPosRankSum=0.680;SOR=0.862	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	20	0	1	0
chr11	7695098	7695098	C	T	exonic	OVCH2	.	nonsynonymous SNV	OVCH2:NM_198185:exon12:c.G1373A:p.C458Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.983	D	0.000	D	0.847	N	3.165	M	-0.2	T	-0.117	T	0.488	T	0.884	2.509	14.35	4.65	1.341	3.059	12.077	0.489	0.0417392351103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.144e-07	6.84e-07	0	1.448e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.721e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000125	0.49741	D	0.000000	0.847248	0.28547	N	.	.	.	.	.	.	.	.	.	0.826	0.82257	-0.1169	0.79707	T	0.488	0.80525	T	10	0.98016715	0.97975	D	0.041739	0.60088	D	.	.	0.932	0.98960	0.0482279557977	0.04254	0.9083998572990325	0.90812	.	.	0.649084091187	0.59856	T	0.33728	0.70668	T	0.532843	0.95214	D	0.527615	0.95143	D	0.993654370307922	0.84541	D	0.60384	0.22664	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.719	0.73738	P	.;.	.;.	4.199292	0.63353	24.6	0.99665834793981545	0.78266	0.77299	0.37990	D	AEFGBCI	0.265966	0.38298	N	0.622444429617222	0.74596	6.159618	0.521213156552058	0.69418	5.35777	0.999017102160765	0.38212	0.049104	0.00279	0	0.068659	0.01829	0	0.067067	0.01885	0	0.060263	0.01266	0	.	.	5.56	4.65	0.57626	3.372000	0.52115	3.851000	0.40089	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.859000	0.40722	0.0:0.9165:0.0:0.0835	12.077	0.52945	801	0.44448	CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1346.98	33	chr11	7695098	.	C	T	1346.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.02;DP=806;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=0.908;SOR=0.732	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1185	20	0	1	0
chr11	7987585	7987585	C	T	exonic	EIF3F	.	nonsynonymous SNV	EIF3F:NM_003754:exon1:c.C233T:p.P78L,	.	.	383	1136	3	0	0	3	0.00131868	.	.	2743652	EIF3F-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.002	B	0.007	B	0.874	N	1.000	D	0.625	N	1.54	T	-1.030	T	0.083	T	0.202	3.270	16.98	2.97	1.994	0.812	12.230	0.083	0.0208829789782	0.0009	0.000199681	0.0014	0	0.0009	0	0	0.0021	0.0015	0.0013	0.0001876	29	154602	rs200229110	0.0013	0.0013	0.0012	0.0013	0.0040	0.0012	0.0012	0.0026	0.0021	0.0003	0.0007	0.0081	0	0.0002	0.0040	0.0013	0.0019	0.0009	0.0011	0.0011	0.0011	0.0011	0.0017	0.0009	0.0009	0.0012	0.0011	0.0002	0	0.0017	0.0086	0	0	0	0.0014	0.0014	0.0002	0.005	0.63226	D	0.034	0.52727	D	0.002	0.09854	B	0.007	0.12992	B	0.874246	0.08802	N	0.943443	0.999998	0.58761	D	0.895	0.22405	L	0.98	0.42122	T	-0.62	0.18248	N	0.142	0.19995	-1.0299	0.20487	T	0.083	0.32700	T	10	0.0059174597	0.00133	T	0.020883	0.43558	T	0.083	0.24192	.	.	0.128874641272	0.12493	0.19762602238569787	0.19679	0.284819605958	0.30900	0.742073535919	0.73278	T	0.008647	0.07927	T	-0.51202	0.00489	T	-0.532885	0.19000	T	0.056818025186601	0.06659	T	.	.	.	0.08013977	0.18347	0.05640729	0.10074	0.08013977	0.18346	0.05640729	0.10073	-4.915	0.35903	T	.	.	0.111	0.34339	B	.;.;.	.;.;.	2.258865	0.28859	17.94	0.99321029265576699	0.59393	0.04962	0.10727	N	AEFGBCI	0.108788	0.21631	N	-0.703135107759395	0.15932	0.8074151	-0.703501639434969	0.16874	0.8946542	0.999999991954739	0.74766	0.733237	0.96898	0	0.600757	0.49542	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	2.97	2.97	0.33479	0.320000	0.19288	2.430000	0.32726	0.599000	0.40250	0.000000	0.06391	0.928000	0.28476	0.094000	0.17991	0.0:1.0:0.0:0.0	12.230	0.53793	819	0.41190	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1193.98	36	chr11	7987585	.	C	T	1193.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.88;DP=900;ExcessHet=0.0000;FS=3.604;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.05;MQRankSum=-8.420e-01;QD=10.85;ReadPosRankSum=1.29;SOR=1.069	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr11	8168901	8168901	C	T	exonic	RIC3	.	nonsynonymous SNV	RIC3:NM_001135109:exon1:c.G89A:p.R30H	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.000	N	1.000	D	2.255	M	1.41	T	-0.760	T	0.186	T	0.701	2.785	15.27	4.52	1.283	3.933	12.781	0.135	0.143192238447	.	.	4.393e-05	0	0	0	0	8.037e-05	0	0	4.53e-05	7	154602	rs202021657	6.031e-05	6.088e-05	6.956e-05	5.097e-05	0.0002	4.97e-05	4.635e-05	5.628e-05	5.2e-05	3.016e-05	0	0	0	0	0.0002	6.931e-05	4.983e-05	6.967e-05	4.6e-05	4.597e-05	2.569e-05	6.725e-05	0.0002	2.109e-05	1.527e-05	1.972e-05	1.124e-05	2.413e-05	0	0	0	0	0	0	5.879e-05	0.0005	0.0002	0.0	0.91255	D	0.144	0.69154	T	0.552	0.38158	P	0.104	0.31021	B	0.000302	0.45977	N	0.088824	0.999697	0.81001	D	2.535	0.73915	M	1.41	0.33412	T	-1.9	0.64019	N	0.677	0.68429	-0.7599	0.57411	T	0.186	0.53601	T	10	0.25654465	0.43060	T	0.143192	0.82553	D	0.135	0.36572	0.33	0.31519	0.613577848098	0.61045	0.517964149204972	0.51719	0.38442944275	0.39743	0.669911682606	0.62825	T	0.108667	0.42189	T	-0.0527435	0.44029	T	-0.126366	0.61276	T	0.483834634152786	0.32038	T	0.921108	0.76191	D	0.19685413	0.41529	0.3274321	0.58641	0.19685413	0.41529	0.3274321	0.58640	-7.448	0.64733	T	.	.	0.347	0.56377	A	.;.;.;.;.;.	.;.;.;.;.;.	5.153470	0.86327	28.9	0.98962367655867289	0.49364	0.87297	0.46793	D	ALL	0.624463	0.60803	D	0.25244916359949	0.53758	3.543548	0.304632242991429	0.55809	3.743973	0.999999995674776	0.74766	0.446893	0.09132	0	0.552344	0.17405	0	0.519653	0.09787	0	0.530356	0.10902	0	.	.	5.43	4.52	0.54797	3.984000	0.56632	3.814000	0.39922	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9197:0.0:0.0803	12.781	0.56857	726	0.54788	.;Resistance to inhibitors of cholinesterase protein 3, N-terminal;Resistance to inhibitors of cholinesterase protein 3, N-terminal;.;Resistance to inhibitors of cholinesterase protein 3, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1080.98	34	chr11	8168901	.	C	T	1080.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.538e+00;DP=792;ExcessHet=0.0000;FS=3.114;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=-1.024e+00;SOR=1.121	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1294	20	0	1	0
chr11	8620456	8620456	T	C	exonic	TRIM66	.	nonsynonymous SNV	TRIM66:NM_014818:exon16:c.A3134G:p.Y1045C,	.	.	428	1087	7	0	0	7	0.00320954	.	.	724779	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.19	T	0.0	B	0.002	B	0.293	N	1.000	N	1.04	L	2.18	T	-1.024	T	0.020	T	0.203	0.755	7.997	-0.576	-0.185	-0.215	2.045	0.016	0.00559093928902	0.0020	0.00139776	0.0029	0	0.0025	0	0.0019	0.0021	0	0.0051	0.000925	143	154602	rs150122555	0.0030	0.0029	0.0029	0.0031	0.0060	0.0029	0.0029	0.0056	0.0054	0.0003	0.0016	7.942e-05	0	0.0016	0.0023	0.0031	0.0023	0.0060	0.0014	0.0014	0.0016	0.0012	0.0043	0.0012	0.0012	0.0029	0.0024	0.0003	0	0.0009	0	0	0.0008	0.0068	0.0022	0.0009	0.0043	0.124	0.27426	T	0.222	0.25748	T	0.0	0.02946	B	0.002	0.06944	B	0.292520	0.14743	N	0.636987	1	0.08975	N	0.82	0.20857	L	2.18	0.18875	T	-2.9	0.60827	D	0.15	0.19593	-1.0236	0.22541	T	0.020	0.08593	T	10	0.006609887	0.00150	T	0.005591	0.14439	T	0.016	0.02506	.	.	0.456919554969	0.45315	0.348380332175529	0.34752	.	.	0.283593297005	0.07998	T	0.010932	0.09820	T	-0.587384	0.00174	T	-0.614178	0.11647	T	0.00531661494495759	0.00057	T	0.743326	0.38541	T	0.36613774	0.58299	0.14091498	0.33575	0.36613774	0.58299	0.14091498	0.33574	-1.771	0.02424	T	.	.	0.073	0.09385	B	.;.;.	.;.;.	0.618312	0.09867	6.629	0.86719478259353766	0.16726	0.02196	0.06414	N	AEFDBI	0.049144	0.08460	N	-0.910700696444323	0.10591	0.5068283	-0.924207046547608	0.11524	0.5875796	6.7718820559735E-4	0.07599	0.651	0.46895	0	0.653731	0.59785	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	4.68	-0.576	0.11143	-0.332000	0.07948	-1.859000	0.04598	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.921000	0.45669	0.115:0.1963:0.1347:0.554	2.045	0.03343	502	0.75873	Bromodomain;Bromodomain;Bromodomain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1096.98	34	chr11	8620456	.	T	C	1096.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.562;DP=819;ExcessHet=0.0000;FS=8.029;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.97;ReadPosRankSum=-9.100e-01;SOR=1.330	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1374	20	0	1	0
chr11	8638778	8638778	G	A	exonic	TRIM66	.	nonsynonymous SNV	TRIM66:NM_014818:exon10:c.C1751T:p.P584L,	.	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.885	P	0.336	B	0.001	D	0.999	D	1.845	L	2.43	T	-1.099	T	0.044	T	0.489	0.530	6.871	4.49	0.852	4.026	16.630	0.198	0.00776821065909	0.0002	.	4.744e-05	0.0005	0	0	0	0	0	0	6.5e-06	1	154602	rs371456414	4.36e-05	4.241e-05	2.68e-05	6.087e-05	0.0002	3.459e-05	3.135e-05	4.01e-05	3.598e-05	3.169e-05	0	3.975e-05	0	0	0.0002	5.098e-05	1.725e-05	2.525e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.27194	T	0.005	0.72224	D	0.885	0.48692	P	0.336	0.42263	B	0.000902	0.41128	D	0.110349	0.998729	0.45339	D	2.28	0.64929	M	2.43	0.15261	T	-3.5	0.70674	D	0.209	0.42247	-1.0985	0.04277	T	0.044	0.18906	T	10	0.11702865	0.22091	T	0.007768	0.20616	T	0.198	0.48105	.	.	0.237489013734	0.23353	0.3502816851328435	0.34942	.	.	0.397181451321	0.24676	T	0.055483	0.30020	T	-0.30467	0.08226	T	-0.438745	0.28949	T	0.214522436261177	0.21187	T	0.70483	0.31518	T	0.06317069	0.13272	0.08111973	0.18409	0.06317069	0.13271	0.08111973	0.18408	-4.446	0.30176	T	.	.	0.091	0.22825	B	.;.;.	.;.;.	2.613634	0.33953	19.49	0.66413160513973513	0.08052	0.91539	0.53741	D	AEFDBI	0.253074	0.37263	N	-0.28138960091018	0.29867	1.660154	-0.261706611049281	0.29370	1.644971	0.998537631919756	0.37148	0.562547	0.31514	0	0.653731	0.59785	0	0.685742	0.62368	0	0.491896	0.07777	0	.	.	5.39	4.49	0.54177	4.106000	0.57539	4.602000	0.44001	-0.110000	0.15115	1.000000	0.71638	1.000000	0.68203	0.002000	0.04165	0.0:0.1318:0.8682:0.0	16.630	0.84885	387	0.83408	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	882.98	34	chr11	8638778	.	G	A	882.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.41;DP=787;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.22;ReadPosRankSum=1.95;SOR=0.841	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr11	8640492	8640492	G	A	exonic	TRIM66	.	nonsynonymous SNV	TRIM66:NM_014818:exon9:c.C1448T:p.P483L,	.	.	442	1057	22	1	0	24	0.0112254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.067	B	0.018	B	0.001	D	0.996	D	2.075	M	2.4	T	-1.074	T	0.052	T	0.299	2.228	13.41	4.14	2.151	0.000	14.764	0.077	0.0122945728011	.	0.000599042	0.0021	0.0017	0.0030	0	0	0.0041	0.0044	0.0006	0.0005627	87	154602	rs200180407	0.0016	0.0015	0.0015	0.0016	0.0244	0.0015	0.0015	0.0209	0.0196	0.0010	0.0056	0.0130	2.846e-05	6.199e-05	0.0244	0.0010	0.0043	0.0013	0.0019	0.0019	0.0018	0.0019	0.0047	0.0017	0.0016	0.0038	0.0035	0.0005	0	0.0047	0.0150	0	0	0.0387	0.0016	0.0078	0.0007	0.0	0.91255	D	0.004	0.74150	D	0.067	0.23653	B	0.018	0.18489	B	0.000525	0.43581	D	0.000000	0.996231	0.43090	D	1.1	0.28011	L	2.4	0.15608	T	-1.61	0.38734	N	0.287	0.37197	-1.0743	0.08493	T	0.052	0.22192	T	10	0.007167518	0.00163	T	0.012295	0.30730	T	0.077	0.22490	.	.	0.40528724903	0.40140	0.19159180296249653	0.19077	.	.	0.625356137753	0.56486	T	0.005053	0.04483	T	-0.497353	0.00592	T	-0.485823	0.23831	T	0.0608751208973345	0.07305	T	0.59564	0.22695	T	0.17800525	0.38797	0.34425545	0.60125	0.17800525	0.38797	0.34425545	0.60125	-4.563	0.31703	T	.	.	0.101	0.25689	B	.;.;.	.;.;.	3.088275	0.41569	21.4	0.94994902572322137	0.25950	0.95810	0.66250	D	AEFDBI	0.154279	0.27928	N	-0.0227403274774952	0.40828	2.431368	0.0716012061328867	0.43128	2.621004	0.999993948386023	0.74766	0.608966	0.35542	0	0.653731	0.59785	0	0.769059	0.98459	0	0.727631	0.95156	0	.	.	4.14	4.14	0.47821	2.996000	0.49137	6.801000	0.56627	0.616000	0.49467	0.995000	0.38783	1.000000	0.68203	0.737000	0.35335	0.0:0.0:1.0:0.0	14.764	0.69247	363	0.84772	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1604.11	33	chr11	8640492	.	G	A	1604.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.41;DP=795;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.73;ReadPosRankSum=1.53;SOR=0.693	GT:AD:DP:GQ:PL	0/1:30,30:60:99:936,0,885	19	0	2	0
chr11	8640672	8640672	G	A	exonic	TRIM66	.	nonsynonymous SNV	TRIM66:NM_014818:exon9:c.C1268T:p.A423V,	.	.	433	1076	10	3	0	16	0.00738007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.265	B	0.074	B	0.711	N	0.999	N	1.67	L	2.22	T	-1.065	T	0.044	T	0.221	1.378	10.54	5.23	2.458	1.983	9.483	0.075	.	0.0026	.	0.0034	0	0.0024	0	0	0.0056	0.0149	0.0023	0.0007309	113	154602	rs201023559	0.0018	0.0017	0.0017	0.0019	0.0030	0.0017	0.0017	0.0025	0.0024	0.0002	0.0010	0.0159	2.798e-05	0.0006	0.0030	0.0015	0.0027	0.0028	0.0016	0.0016	0.0016	0.0016	0.0021	0.0015	0.0014	0.0019	0.0018	0.0002	0	0.0014	0.0167	0.0002	0.0003	0.0034	0.0021	0.0005	0.0019	0.007	0.63226	D	0.247	0.24054	T	0.265	0.31634	B	0.074	0.28220	B	0.711139	0.10013	N	0.847995	0.99876	0.21933	N	0.975	0.24501	L	2.22	0.18248	T	-0.34	0.12661	N	0.073	0.11340	-1.0649	0.10572	T	0.044	0.18906	T	10	0.0048727393	0.00104	T	.	.	.	0.075	0.21907	.	.	0.317667799068	0.31381	0.13300085741214776	0.13224	.	.	0.342824816704	0.16860	T	0.003345	0.02748	T	-0.534771	0.00360	T	-0.546175	0.17695	T	0.0304136835916939	0.02054	T	0.730127	0.34567	T	0.046097476	0.07657	0.07208847	0.15512	0.046097476	0.07657	0.07208847	0.15511	-3.443	0.15642	T	.	.	0.080	0.07697	B	.;.;.	.;.;.	2.407311	0.30938	18.59	0.98792263378419221	0.46317	0.84066	0.43151	D	AEFDGBI	0.103041	0.20655	N	-0.0441051428732156	0.39868	2.358027	0.0540653144450471	0.42270	2.553693	0.999918908304563	0.45857	0.706548	0.73137	0	0.724815	0.89359	0	0.769059	0.98459	0	0.683762	0.67416	0	.	.	5.23	5.23	0.72570	2.042000	0.40844	7.509000	0.59594	0.610000	0.48991	0.983000	0.35670	1.000000	0.68203	0.971000	0.54645	0.0:0.1968:0.6684:0.1348	9.483	0.38078	362	0.84826	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2463.98	41	chr11	8640672	.	G	A	2463.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.285;DP=1046;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=-8.690e-01;SOR=0.703	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1076	20	0	1	0
chr11	8988216	8988216	G	A	exonic	NRIP3	.	nonsynonymous SNV	NRIP3:NM_020645:exon2:c.C241T:p.R81C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.791	P	0.000	D	1.000	D	1.61	L	0.82	T	-0.681	T	0.211	T	0.709	4.644	25.5	5.14	1.555	4.651	16.360	0.250	0.0282303886571	.	.	.	.	.	.	.	.	.	.	.	.	.	rs966118825	2.052e-05	2.052e-05	2.042e-05	2.063e-05	5.797e-05	1.456e-05	1.264e-05	2.194e-05	1.43e-05	0	2.236e-05	0	2.519e-05	0	0	2.069e-05	0	5.797e-05	3.943e-05	3.94e-05	5.139e-05	2.69e-05	7.349e-05	1.716e-05	1.13e-05	2.846e-05	1.858e-05	2.413e-05	0	0	0	0	0	0	7.349e-05	0	0	0.106	0.30235	T	0.001	0.83351	D	0.999	0.77913	D	0.791	0.57754	P	0.000015	0.62929	D	0.114972	0.99999	0.58761	D	1.87	0.49600	L	0.82	0.48142	T	-2.69	0.66436	D	0.796	0.79214	-0.6809	0.61331	T	0.211	0.57107	T	10	0.505826	0.61812	D	0.02823	0.50935	D	0.250	0.55888	.	.	0.302459207581	0.29844	0.21268069628443445	0.21184	1.30182671262	0.83034	0.760835528374	0.76053	T	0.122897	0.44688	T	-0.0984464	0.36683	T	-0.176534	0.56842	T	0.884064733982086	0.53428	D	0.529847	0.17555	T	0.16868979	0.37342	0.14452891	0.34309	0.16868979	0.37341	0.14452891	0.34309	-5.017	0.37024	T	.	.	0.163	0.39782	B	.;.;.	.;.;.	4.629729	0.73600	26.0	0.99911724704689742	0.98095	0.87167	0.46625	D	AEFBCI	0.587459	0.58510	D	0.559951217589813	0.70690	5.538726	0.572438133642099	0.72971	5.894696	0.999996970771199	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	6.06	5.14	0.70008	4.865000	0.62695	8.705000	0.78119	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.1324:0.8676:0.0	16.360	0.83090	414	0.81871	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2678.98	34	chr11	8988216	.	G	A	2678.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=922;ExcessHet=0.0000;FS=3.018;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=-5.770e-01;SOR=0.913	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1231	20	0	1	0
chr11	10559867	10559867	G	C	exonic	LYVE1	.	nonsynonymous SNV	LYVE1:NM_006691:exon5:c.C731G:p.A244G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.000	D	1.000	D	2.215	M	2.62	T	-0.348	T	0.350	T	0.535	4.797	27.1	5.44	2.570	5.738	18.043	0.279	0.035680634441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0010	0.0001	0.0001	0.0001	9.22e-05	8.745e-05	0.0001	0.0001	3.018e-05	0	3.84e-05	0	0	0	0.0001	8.361e-05	3.493e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.000000	0.999976	0.53665	D	1.995	0.54099	M	2.62	0.57100	T	-2.2	0.74051	N	0.656	0.78072	-0.3484	0.73600	T	0.350	0.71439	T	10	0.7359656	0.74622	D	0.035681	0.56501	D	0.279	0.59619	0.486	0.56939	0.740229456086	0.73790	0.4308752596838396	0.43004	0.43936280621	0.43965	0.555330634117	0.46608	T	0.738373	0.92733	D	0.027231	0.55354	T	-0.198661	0.54773	T	0.952442526817322	0.63793	D	0.80142	0.48765	T	0.3713057	0.58681	0.47502097	0.69577	0.3713057	0.58681	0.47502097	0.69577	-3.975	0.23428	T	.	.	0.29	0.61572	B	.;.	.;.	4.798394	0.77943	26.8	0.99798832104841995	0.88372	0.95259	0.64030	D	AEFI	0.868902	0.78922	D	0.791556132315038	0.85574	8.616862	0.766818552650126	0.87408	9.211633	0.934815928530212	0.27187	0.615465	0.37627	0	0.563428	0.19063	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.124000	0.71349	11.915000	0.99681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.043	0.89248	516	0.74704	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2333	480.78	80	chr11	10559867	.	G	C,A	480.78	.	AC=1,6;AF=0.033,0.200;AN=30;BaseQRankSum=-3.132e+00;DP=2242;ExcessHet=2.5830;FS=198.804;InbreedingCoeff=-0.3113;MLEAC=1,7;MLEAF=0.033,0.233;MQ=60.00;MQRankSum=0.00;QD=0.60;ReadPosRankSum=0.321;SOR=11.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:95,26,0:121:67:.:.:0,67,1822,267,1888,2088	8	0	1	6
chr11	10559867	10559867	G	A	exonic	LYVE1	.	nonsynonymous SNV	LYVE1:NM_006691:exon5:c.C731T:p.A244V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.998	D	0.000	D	1.000	D	2.215	M	2.74	T	-0.451	T	0.344	T	0.724	4.500	24.2	5.44	2.570	5.738	18.043	0.222	0.0316624712336	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1011426411	1.382e-05	1.372e-05	1.79e-05	9.716e-06	0.0009	9.03e-06	7.34e-06	0.0003	0.0002	3.015e-05	0	0	0	0	0.0009	1.184e-05	0	1.164e-05	1.322e-05	1.316e-05	1.291e-05	1.354e-05	1.473e-05	2.2e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	1.473e-05	0	0	0.116	0.91255	T	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.000000	0.999982	0.54805	D	1.995	0.54099	M	2.74	0.57100	T	-1.72	0.74051	N	0.743	0.83371	-0.4509	0.70370	T	0.344	0.70940	T	10	0.7525157	0.75742	D	0.031662	0.53686	D	0.222	0.51872	0.383	0.40134	0.752590173691	0.75035	0.5316431793870309	0.53089	0.438298358417	0.43869	0.586091697216	0.50943	T	0.380784	0.74325	T	0.128026	0.67169	D	-0.0538753	0.66757	D	0.953589856624603	0.64061	D	0.849515	0.57326	T	0.22611228	0.45285	0.23588851	0.48845	0.22611228	0.45285	0.23588851	0.48844	-4.267	0.27712	T	.	.	0.576	0.75037	P	.;.	.;.	4.864352	0.79626	27.1	0.99869083234187406	0.94726	0.94107	0.60133	D	AEFI	0.863055	0.78149	D	0.767749876461228	0.84054	8.182144	0.746411232723111	0.85890	8.717017	0.934815928530212	0.27187	0.615465	0.37627	0	0.563428	0.19063	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.124000	0.71349	11.915000	0.99681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.043	0.89248	516	0.74704	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2333	480.78	80	chr11	10559867	.	G	C,A	480.78	.	AC=1,6;AF=0.033,0.200;AN=30;BaseQRankSum=-3.132e+00;DP=2242;ExcessHet=2.5830;FS=198.804;InbreedingCoeff=-0.3113;MLEAC=1,7;MLEAF=0.033,0.233;MQ=60.00;MQRankSum=0.00;QD=0.60;ReadPosRankSum=0.321;SOR=11.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:95,26,0:121:67:.:.:0,67,1822,267,1888,2088	8	0	1	6
chr11	10581936	10581936	G	A	exonic	IRAG1	.	nonsynonymous SNV	IRAG1:NM_001206881:exon17:c.C1346T:p.T449I	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.458	P	0.137	B	0.349	N	0.987	N	1.5	L	2.4	T	-1.052	T	0.037	T	0.117	0.007	4.050	4.32	1.315	4.097	9.332	0.054	0.0053146433913	0.0011	0.00139776	0.0015	0.0006	0.0025	0	0	0.0021	0.0033	0.0003	0.0015782	244	154602	rs147475878	0.0020	0.0020	0.0019	0.0020	0.0024	0.0019	0.0019	0.0023	0.0022	0.0002	0.0024	0.0004	0	0	0.0010	0.0024	0.0016	0.0002	0.0015	0.0015	0.0017	0.0014	0.0041	0.0014	0.0013	0.0033	0.0030	0.0006	0	0.0041	0.0009	0	0	0.0034	0.0020	0.0038	0	0.306	0.20988	T	0.18	0.30926	T	.	.	.	.	.	.	0.348621	0.13851	N	0.670270	1	0.08975	N	.	.	.	2.4	0.15608	T	-0.9	0.24676	N	0.289	0.36989	-1.0523	0.13763	T	0.037	0.15986	T	10	0.0056712627	0.00126	T	0.005315	0.13587	T	0.054	0.15330	.	.	0.231873229951	0.22792	0.10104478635107605	0.10035	0.110646270925	0.12494	0.314245045185	0.12549	T	0.117015	0.43679	T	-0.618644	0.00112	T	-0.659081	0.08329	T	0.0149690878093355	0.00320	T	0.871013	0.57621	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.30022	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.846748	0.23464	16.03	0.74862140681896128	0.10855	0.67706	0.33530	D	ALL	0.432051	0.49409	N	-0.294338587630735	0.29367	1.627871	-0.276836334030587	0.28862	1.613	0.999999999521604	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.466023	0.07079	0	.	.	5.24	4.32	0.50899	3.983000	0.56625	6.652000	0.56219	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.048000	0.15020	0.1682:0.0:0.8318:0.0	9.332	0.37187	423	0.81269	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1015.98	35	chr11	10581936	.	G	A	1015.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.31;DP=776;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=0.547;SOR=0.783	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1268	20	0	1	0
chr11	10603218	10603229	GGTGCTCACAGT	-	exonic	IRAG1	.	nonframeshift deletion	IRAG1:NM_001206881:exon12:c.821_832del:p.H274_H277del	.	.	421	1096	5	0	0	5	0.00227583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.776e-05	0	0	0	0	0.0001	0	0	3.84e-05	1	26028	rs747974032	8.28e-05	8.277e-05	7.08e-05	9.492e-05	0.0005	7.071e-05	6.62e-05	0.0001	7.66e-05	0	0	0.0022	0	0	0.0005	4.767e-05	9.942e-05	2.32e-05	5.918e-05	6.568e-05	3.856e-05	8.077e-05	5.881e-05	3.079e-05	2.211e-05	1.972e-05	1.124e-05	0	0	0	0.0014	0	0	0	5.881e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1484.94	34	chr11	10603217	.	CGGTGCTCACAGT	C	1484.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.020e-01;DP=798;ExcessHet=0.0000;FS=0.822;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.47;ReadPosRankSum=-7.370e-01;SOR=0.868	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1191	20	0	1	0
chr11	10603227	10603227	A	T	exonic	IRAG1	.	nonsynonymous SNV	IRAG1:NM_001206881:exon12:c.T823A:p.C275S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.077	B	0.017	B	0.002	N	1.000	N	0.97	L	2.48	T	-1.054	T	0.025	T	0.28	2.194	13.29	5.63	2.257	2.266	11.243	0.029	0.00360112559653	8.1e-05	.	0.0002	0	0	0	0.0002	0.0003	0	0	0.0001294	20	154602	rs375240782	0.0001	0.0001	0.0001	0.0001	0.0009	0.0001	0.0001	0.0003	0.0002	0	6.709e-05	0.0020	0	0.0004	0.0009	0.0001	0.0002	2.32e-05	9.862e-05	0.0001	7.712e-05	0.0001	8.823e-05	6.01e-05	4.883e-05	3.763e-05	2.576e-05	2.414e-05	0	0	0.0009	0	0.0005	0	8.823e-05	0	0	0.266	0.17239	T	0.546	0.11968	T	.	.	.	.	.	.	0.001596	0.38554	N	0.299547	0.752273	0.29625	N	.	.	.	2.48	0.14657	T	-1.34	0.35399	N	0.25	0.35301	-1.0545	0.13172	T	0.025	0.10910	T	10	0.034205467	0.01621	T	0.003601	0.08247	T	0.029	0.06676	.	.	0.355658859761	0.35178	0.24394088943200626	0.24308	0.10099815204	0.11413	0.43475317955	0.29860	T	0.054444	0.29726	T	-0.381109	0.03066	T	-0.525534	0.19735	T	0.0395820292128215	0.03615	T	0.783222	0.41972	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.28664	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.306844	0.29522	18.15	0.8906579547555048	0.18482	0.87987	0.47723	D	AEFBI	0.680831	0.64439	D	-0.147880783383123	0.35325	2.027587	0.0598825068487348	0.42550	2.575718	0.99999517148414	0.74766	0.656854	0.48797	0	0.59043	0.45803	0	0.67347	0.61138	0	0.613276	0.41899	0	.	.	5.63	5.63	0.86108	2.255000	0.42877	6.635000	0.56164	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8635:0.0:0.0:0.1365	11.243	0.48211	415	0.81806	.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3161.28	34	chr11	10603227	.	A	T,*	3161.28	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=1.34;DP=912;ExcessHet=0.3300;FS=4.890;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=1.40;SOR=0.982	GT:AD:DP:GQ:PL	0/0:33,0,0:33:99:0,99,1191,99,1191,1191	18	0	2	0
chr11	10603227	10603227	A	0	exonic	IRAG1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3161.28	34	chr11	10603227	.	A	T,*	3161.28	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=1.34;DP=912;ExcessHet=0.3300;FS=4.890;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=1.40;SOR=0.982	GT:AD:DP:GQ:PL	0/0:33,0,0:33:99:0,99,1191,99,1191,1191	18	0	2	0
chr11	10755722	10755722	C	G	exonic	CTR9	.	nonsynonymous SNV	CTR9:NM_001346279:exon4:c.C429G:p.D143E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.179	B	0.018	B	0.000	D	1.000	D	1.95	M	-1.03	T	-0.702	T	0.303	T	0.351	1.962	12.52	5.05	1.524	1.557	9.667	0.337	0.0415363704924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.26965	T	0.172	0.30241	T	0.179	0.28995	B	0.018	0.18489	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.95	0.52479	M	-1.03	0.76430	T	-2.74	0.58248	D	0.336	0.37717	-0.7016	0.60362	T	0.303	0.67371	T	10	0.3098428	0.48468	T	0.041536	0.59981	D	0.337	0.65913	0.658	0.79585	0.72683377105	0.72441	0.42989477580108654	0.42906	0.975079256264	0.73533	0.841479241848	0.88320	D	0.310761	0.68270	T	-0.00051415	0.51582	T	-0.238515	0.50943	T	0.793070495128632	0.45891	D	0.908909	0.67748	D	0.36213583	0.57999	0.18108493	0.40950	0.36213583	0.57999	0.18108493	0.40949	-7.59	0.58241	D	.	.	0.543	0.66471	A	.;.	.;.	2.796378	0.36774	20.3	0.98952323052854896	0.49170	0.91958	0.54632	D	AEFDGBI	0.263388	0.38095	N	-0.153124570001668	0.35101	2.011978	0.00258476757586344	0.39835	2.368027	0.971910117719192	0.29326	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.97	5.05	0.67566	1.586000	0.36221	3.289000	0.37290	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8028:0.0:0.1972	9.667	0.39156	794	0.45591	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1539.98	129	chr11	10755722	.	C	G	1539.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.211e+00;DP=836;ExcessHet=0.0000;FS=7.957;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=0.156;SOR=0.831	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1284	20	0	1	0
chr11	10778867	10778867	G	A	exonic	CTR9	.	nonsynonymous SNV	CTR9:NM_001346279:exon24:c.G3212A:p.R1071K	.	.	432	1083	7	0	0	7	0.00322135	.	.	935277	not_provided|Predisposition_to_Wilms_tumor,_CTR9-related	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.56	T	0.841	P	0.745	P	0.000	D	1.000	D	0.205	N	0.95	T	-1.046	T	0.113	T	0.449	3.460	17.72	5.5	2.591	4.815	19.391	0.156	0.0144982354941	0.0002	0.000199681	0.0002	0	0.0002	0	0	0.0004	0	0	0.000207	32	154602	rs141434094	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0	0.0002	3.826e-05	0	1.872e-05	0	0.0002	0.0001	0	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0001	0.0004	0.0003	0	0	0.0007	0	0	0	0	0.0004	0	0	0.334	0.12961	T	0.884	0.03187	T	0.841	0.46518	P	0.745	0.55870	P	0.000000	0.84330	D	0.044916	1	0.81001	D	1.525	0.38595	L	0.95	0.43279	T	-0.12	0.08809	N	0.33	0.37093	-1.0464	0.15418	T	0.113	0.40261	T	10	0.093266755	0.16492	T	0.014498	0.34657	T	0.156	0.40720	.	.	0.456461865991	0.45270	0.27371880974305096	0.27284	0.135726669683	0.15305	0.589054882526	0.51360	T	0.047186	0.27649	T	-0.349423	0.04763	T	-0.381117	0.35591	T	0.160974930325239	0.17943	T	0.690631	0.30012	T	0.20660912	0.42840	0.19757381	0.43546	0.20660912	0.42840	0.19757381	0.43545	-4.105	0.25364	T	.	.	0.071	0.03773	B	.	.	3.274452	0.44839	22.0	0.99264206114572895	0.57322	0.93889	0.59485	D	AEFDBHCIJ	0.681721	0.64498	D	0.29834465419715	0.56064	3.770742	0.399323738613922	0.61523	4.353607	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	4.921000	0.63096	9.913000	0.82443	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.717000	0.34675	0.0:0.0:1.0:0.0	19.391	0.94572	658	0.62094	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2226.98	40	chr11	10778867	.	G	A	2226.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.298;DP=842;ExcessHet=0.0000;FS=0.604;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.65;ReadPosRankSum=1.39;SOR=0.633	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1076	20	0	1	0
chr11	10853306	10853306	C	T	exonic	ZBED5	.	nonsynonymous SNV	ZBED5:NM_001143667:exon3:c.G1640A:p.S547N	.	.	435	1018	63	6	0	75	0.0355282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.838	P	0.429	B	.	.	0.966	N	0.995	L	2.07	T	-1.104	T	0.030	T	0.166	0.971	8.963	3.88	2.451	0.840	11.645	0.051	.	0.0018	0.00359425	0.0089	0.0024	0.0027	0	0	0.0033	0.0102	0.0179	0.0018693	289	154602	rs149344014	0.0040	0.0039	0.0036	0.0045	0.0253	0.0040	0.0039	0.0219	0.0206	0.0005	0.0048	0.0039	0	0.0006	0.0253	0.0034	0.0049	0.0163	0.0031	0.0031	0.0027	0.0036	0.0180	0.0029	0.0028	0.0150	0.0138	0.0006	0.0175	0.0052	0.0026	0.0002	0.0007	0.0170	0.0034	0.0061	0.0180	0.297	0.14645	T	0.275	0.22016	T	0.838	0.46404	P	0.429	0.45365	B	.	.	.	.	0.965601	0.25931	N	1.195	0.30194	L	2.07	0.20387	T	-0.25	0.11008	N	0.132	0.12770	-1.1044	0.03598	T	0.030	0.13067	T	9	0.005743891	0.00128	T	.	.	.	0.051	0.14325	.	.	0.152612264143	0.14878	0.3926522387171367	0.39180	.	.	0.546009838581	0.45294	T	0.011072	0.09929	T	-0.545125	0.00312	T	-0.542837	0.18018	T	0.0192128586043698	0.00628	T	0.316468	0.06291	T	0.099952675	0.23594	0.09674408	0.23000	0.099952675	0.23594	0.09674408	0.22999	-3.472	0.16042	T	.	.	0.097	0.15698	B	.;.	.;.	1.524214	0.19565	14.33	0.9633974236410533	0.29476	0.70214	0.34498	D	AEFBI	0.081199	0.16429	N	0.0833933956385252	0.45690	2.821236	0.136925729028954	0.46454	2.891047	0.999998665454906	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.88	3.88	0.43959	0.847000	0.27348	1.032000	0.23488	0.454000	0.21428	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	11.645	0.50517	587	0.69154	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3935.11	92	chr11	10853306	.	C	T	3935.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.03;DP=970;ExcessHet=0.1072;FS=2.713;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.08;ReadPosRankSum=0.759;SOR=0.621	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1212	19	0	2	0
chr11	10854236	10854236	T	C	exonic	ZBED5	.	nonsynonymous SNV	ZBED5:NM_001143667:exon3:c.A710G:p.K237R	.	.	436	1081	5	0	0	5	0.00230734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.999	D	0.95	D	0.003	N	0.993	N	2.51	M	2.92	T	-1.082	T	0.071	T	0.29	2.824	15.40	4.09	2.075	2.763	9.738	0.080	0.00736408184198	0.0002	0.000199681	0.0009	0	0.0049	0	0	0	0	0.0020	0.0001423	22	154602	rs369580175	0.0002	0.0002	0.0001	0.0002	0.0018	0.0002	0.0002	0.0016	0.0015	3.165e-05	0.0002	3.972e-05	0	0	0.0011	6.397e-05	0.0004	0.0018	0.0001	0.0001	7.712e-05	0.0002	0.0012	8.663e-05	7.255e-05	0.0005	0.0004	0	0	0.0005	0	0	0	0	7.351e-05	0.0005	0.0012	0.018	0.50676	D	0.128	0.34959	T	0.999	0.77913	D	0.95	0.68788	D	0.003211	0.35270	N	0.000000	0.99306	0.23778	N	2.18	0.61292	M	2.92	0.09915	T	-1.82	0.42763	N	0.236	0.26596	-1.0824	0.06890	T	0.071	0.28904	T	10	0.010513425	0.00234	T	0.007364	0.19523	T	0.080	0.23350	.	.	0.0986583533028	0.09354	0.21053106534678095	0.20969	.	.	0.755830705166	0.75309	T	0.01451	0.12343	T	-0.484504	0.00697	T	-0.474591	0.25023	T	0.0759527155163378	0.09462	T	0.567243	0.20104	T	0.12077316	0.28413	0.11728191	0.28311	0.12077316	0.28413	0.11728191	0.28310	-6.357	0.49173	T	.	.	0.134	0.29751	B	.;.	.;.	3.563634	0.50160	22.9	0.99806798802806673	0.89085	0.74493	0.36443	D	AEGBI	0.177849	0.30510	N	0.520654719582638	0.68311	5.199955	0.446045708390491	0.64464	4.702108	0.999999354566845	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.09	4.09	0.47038	2.739000	0.47083	5.338000	0.48337	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	9.738	0.39564	587	0.69154	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3021.98	92	chr11	10854236	.	T	C	3021.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=982;ExcessHet=0.0000;FS=1.624;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.43;ReadPosRankSum=0.457;SOR=0.830	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1212	20	0	1	0
chr11	11293106	11293106	C	T	exonic	GALNT18	.	nonsynonymous SNV	GALNT18:NM_001363464:exon9:c.G1414A:p.V472I	.	.	.	.	.	.	.	.	.	.	.	3254452	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.23	T	0.999	D	0.989	D	0.000	D	1.000	D	1.21	L	1.72	T	-1.088	T	0.125	T	0.461	4.714	26.2	5.7	2.688	5.695	18.407	0.153	0.00829286922079	0.0002	.	8.131e-05	0	0	0	0	0.0001	0	0	7.76e-05	12	154602	rs150701186	6.295e-05	9.371e-05	5.717e-05	6.907e-05	0.0012	5.111e-05	4.723e-05	0.0005	0.0004	3.928e-05	5.271e-05	0	0	2.187e-05	0.0012	5.672e-05	0.0001	0.0001	3.284e-05	3.283e-05	3.852e-05	2.689e-05	5.878e-05	1.26e-05	7.98e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.878e-05	0.0005	0	0.566	0.06262	T	0.26	0.23029	T	0.999	0.77913	D	0.989	0.78396	D	0.000001	0.62929	D	0.000000	0.999981	0.54805	D	2.2	0.62015	M	1.72	0.26588	T	-0.5	0.15782	N	0.404	0.44474	-1.0883	0.05821	T	0.125	0.42987	T	10	0.37010005	0.53408	T	0.008293	0.21954	T	0.153	0.40148	.	.	0.637055726968	0.63407	0.24100303202374193	0.24014	0.337466723729	0.35739	0.711877882481	0.68865	T	0.021134	0.16509	T	-0.229948	0.16656	T	-0.362575	0.37755	T	0.246253043413162	0.22704	T	0.753225	0.37546	T	0.093962185	0.22081	0.09663242	0.22967	0.093962185	0.22080	0.09663242	0.22967	-4.11	0.25438	T	.	.	0.110	0.21277	B	.	.	3.409712	0.47294	22.4	0.99890657061371713	0.96513	0.97071	0.72521	D	AEFGBI	0.780678	0.71249	D	0.65098390479402	0.76433	6.485514	0.682546032860543	0.81055	7.437926	0.999999999995769	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.7	5.7	0.88690	5.783000	0.68630	3.965000	0.40779	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.969000	0.54022	0.0:1.0:0.0:0.0	18.407	0.90483	939	0.14249	Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1762.98	42	chr11	11293106	.	C	T	1762.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.858;DP=906;ExcessHet=0.0000;FS=1.325;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=-9.700e-02;SOR=0.837	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1230	20	0	1	0
chr11	11352525	11352525	C	T	exonic	CSNK2A3	.	nonsynonymous SNV	CSNK2A3:NM_001256686:exon1:c.G595A:p.G199S,	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00132433481902	.	.	0.0004	0	0.0003	0	0	0.0007	0.0011	0	0.0003558	55	154602	rs750849569	0.0003	0.0003	0.0002	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	2.987e-05	0.0004	0.0021	0	3.744e-05	0.0002	0.0003	0.0004	8.115e-05	0.0003	0.0003	0.0003	0.0004	0.0008	0.0003	0.0002	0.0005	0.0004	0	0	0.0008	0.0012	0	9.427e-05	0	0.0005	0.0005	0	.	.	.	0.246	0.23984	T	0.999	0.77913	D	0.96	0.70309	D	.	.	.	.	1	0.81001	D	-0.755	0.01709	N	3.56	0.04696	T	.	.	.	0.447	0.48504	.	.	.	.	.	.	.	0.037035614	0.02035	T	0.001324	0.01860	T	.	.	.	.	0.110078149338	0.10416	0.8406291401754424	0.84022	0.417033127101	0.42332	0.776923120022	0.78464	T	0.036269	0.24038	T	-0.308713	0.07861	T	-0.336283	0.40766	T	.	.	.	0.979335	0.92822	D	0.039138928	0.05346	0.17392555	0.39753	0.039138928	0.05346	0.17392555	0.39752	-13.269	0.90440	D	.	.	0.294	0.52516	B	.	.	2.045820	0.26006	16.97	0.75720115557879508	0.11184	0.40655	0.26485	N	AEFGBI	0.156787	0.28220	N	.	.	.	.	.	.	0.999064217174757	0.38343	0.294411	0.05044	0	0.332522	0.05826	0	0.292756	0.05521	0	0.330827	0.05736	0	.	.	1.68	-0.59	0.11093	4.073000	0.57290	3.912000	0.40415	0.445000	0.21165	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.5928:0.2385:0.1687	4.426	0.10931	940	0.13648	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	5875.98	274	chr11	11352525	.	C	T	5875.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=6338;ExcessHet=0.0000;FS=2.422;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.40;ReadPosRankSum=-1.427e+00;SOR=0.637	GT:AD:DP:GQ:PL	0/0:345,0:345:99:0,120,1800	20	0	1	0
chr11	12209565	12209565	A	G	exonic	MICAL2	.	nonsynonymous SNV	MICAL2:NM_001282666:exon4:c.A658G:p.I220V	.	.	420	1073	26	3	0	32	0.0146924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.384	B	0.275	B	0.000	D	0.000	P	1.305	L	-3.52	D	-0.156	T	0.169	T	0.272	2.744	15.14	5.3	2.223	4.732	15.074	0.392	.	0.0029	0.0127796	0.0095	0.0008	0.0021	0.0689	0.0094	0.0052	0.0110	0.0062	0.0088356	1366	154602	rs2306727	0.0063	0.0063	0.0062	0.0064	0.0900	0.0062	0.0062	0.0875	0.0865	0.0009	0.0019	0.0110	0.0900	0.0084	0.0161	0.0034	0.0063	0.0067	0.0055	0.0055	0.0050	0.0060	0.0687	0.0052	0.0051	0.0628	0.0605	0.0007	0	0.0012	0.0112	0.0687	0.0073	0.0034	0.0039	0.0090	0.0064	0.196	0.23095	T	0.414	0.18846	T	0.384	0.34453	B	0.275	0.40079	B	0.000009	0.62929	D	0.065055	8.13236e-05	0.53665	P	0.565	0.15224	N	-3.52	0.94729	D	-0.73	0.22078	N	0.182	0.19728	-0.1560	0.78769	T	0.169	0.50987	T	9	0.016178548	0.00340	T	.	.	.	0.392	0.70764	.	.	0.743643982366	0.74134	0.668593170123256	0.66797	0.417361578228	0.42357	0.365067064762	0.20121	T	0.029494	0.21121	T	-0.292411	0.09395	T	-0.105951	0.62932	T	0.0172870064269576	0.00469	T	0.926107	0.72788	D	0.06916211	0.15131	0.08680722	0.20137	0.06916211	0.15130	0.08680722	0.20136	-7.236	0.55739	T	.	.	0.091	0.24157	B	.;.;.	.;.;.	2.731477	0.35751	19.98	0.99595317556497898	0.73866	0.92954	0.56958	D	AEFGBI	0.590037	0.58668	D	0.0684662290078618	0.44996	2.763673	0.228118151901001	0.51414	3.324089	0.999999932732362	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.3	5.3	0.74745	5.870000	0.69370	4.174000	0.42293	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.074	0.71728	895	0.25842	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1174.98	34	chr11	12209565	.	A	G	1174.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.762e+00;DP=808;ExcessHet=0.0000;FS=1.514;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=-5.160e-01;SOR=0.605	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1167	20	0	1	0
chr11	12293628	12293628	G	A	exonic	MICALCL	.	nonsynonymous SNV	MICALCL:NM_032867:exon3:c.G197A:p.R66Q,	.	.	437	1018	62	5	0	72	0.0341556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.0	B	0.0	B	0.530	N	1.000	N	-0.55	N	3.36	T	-0.917	T	0.003	T	0.056	1.156	9.708	-3.9	-0.778	-0.015	7.360	0.007	.	0.0046	0.00998403	0.0073	0.0015	0.0062	0.0242	0.0038	0.0056	0.0056	0.0110	0.0066558	1029	154602	rs148792670	0.0062	0.0062	0.0060	0.0064	0.0217	0.0061	0.0060	0.0186	0.0179	0.0008	0.0049	0.0054	0.0195	0.0027	0.0217	0.0056	0.0083	0.0099	0.0051	0.0052	0.0051	0.0052	0.0231	0.0048	0.0047	0.0197	0.0184	0.0010	0.0044	0.0056	0.0061	0.0231	0.0027	0.0170	0.0061	0.0071	0.0102	0.673	0.04521	T	0.502	0.11115	T	.	.	.	.	.	.	0.530288	0.11646	N	0.701301	1	0.08975	N	.	.	.	3.36	0.05918	T	0.25	0.04456	N	0.03	0.00717	-0.9170	0.45958	T	0.003	0.01026	T	10	0.0025303662	0.00038	T	.	.	.	0.007	0.00512	.	.	0.132336055621	0.12781	.	.	0.0162568994873	0.01562	0.216049045324	0.01094	T	.	.	.	-0.742639	0.00020	T	-0.818576	0.01482	T	0.00101569959699687	0.00010	T	0.488651	0.14976	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.18622	B	.;.	.;.	0.231460	0.06126	2.572	0.78592888275697237	0.12368	0.01101	0.04040	N	AEFDBI	0.030233	0.03004	N	-1.85835775263321	0.00417	0.0179525	-1.81897311249413	0.00700	0.03118622	0.955462753322834	0.28190	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.71	-3.9	0.03904	0.079000	0.14636	1.571000	0.27417	-0.763000	0.03499	0.079000	0.22314	0.968000	0.29604	0.003000	0.05239	0.3934:0.0:0.4217:0.1849	7.360	0.25913	906	0.23090	.;.	.	.	.	.	rs148792670	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	6833.68	34	chr11	12293628	.	G	A	6833.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.46;DP=1205;ExcessHet=0.3300;FS=0.523;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=0.135;SOR=0.761	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1620	18	0	3	0
chr11	12294806	12294806	-	CTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTC:p.P470_T471insP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/5:0,0,0,0,0,50,0:76:42:.:.:2045,2065,2160,2065,2160,2160,2065,2160,2160,2160,2065,2160,2160,2160,2160,0,109,109,109,109,42,2065,2160,2160,2160,2160,109,2160	6	0	4	0
chr11	12294806	12294806	-	CTCCTCCTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTCCTCCTC:p.P470_T471insPPP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/5:0,0,0,0,0,50,0:76:42:.:.:2045,2065,2160,2065,2160,2160,2065,2160,2160,2160,2065,2160,2160,2160,2160,0,109,109,109,109,42,2065,2160,2160,2160,2160,109,2160	6	0	4	0
chr11	12294806	12294806	-	CTCCTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTCCTC:p.P470_T471insPP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/5:0,0,0,0,0,50,0:76:42:.:.:2045,2065,2160,2065,2160,2160,2065,2160,2160,2160,2065,2160,2160,2160,2160,0,109,109,109,109,42,2065,2160,2160,2160,2160,109,2160	6	0	4	0
chr11	12294806	12294806	-	CTCCTCCTCCTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTCCTCCTCCTC:p.P470_T471insPPPP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/5:0,0,0,0,0,50,0:76:42:.:.:2045,2065,2160,2065,2160,2160,2065,2160,2160,2160,2065,2160,2160,2160,2160,0,109,109,109,109,42,2065,2160,2160,2160,2160,109,2160	6	0	4	0
chr11	12294798	12294806	CTCCTCCTC	-	exonic	MICALCL	.	nonframeshift deletion	MICALCL:NM_032867:exon3:c.1367_1375del:p.P468_P470del,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0140	.	0.0027	0.0050	0.0026	0.0015	0.0007	0.0029	0.0042	0.0020	0.0005379	14	26028	rs761605598	0.0069	0.0073	0.0069	0.0069	0.0141	0.0068	0.0067	0.0130	0.0126	0.0141	0.0080	0.0114	0.0007	0.0005	0.0089	0.0070	0.0088	0.0060	0.0111	0.0096	0.0115	0.0106	0.0238	0.0106	0.0104	0.0222	0.0215	0.0238	0	0.0146	0.0137	0.0013	0.0009	0.0324	0.0073	0.0091	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/5:0,0,0,0,0,50,0:76:42:.:.:2045,2065,2160,2065,2160,2160,2065,2160,2160,2160,2065,2160,2160,2160,2160,0,109,109,109,109,42,2065,2160,2160,2160,2160,109,2160	6	0	4	0
chr11	12294801	12294806	CTCCTC	-	exonic	MICALCL	.	nonframeshift deletion	MICALCL:NM_032867:exon3:c.1370_1375del:p.P469_P470del,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/5:0,0,0,0,0,50,0:76:42:.:.:2045,2065,2160,2065,2160,2160,2065,2160,2160,2160,2065,2160,2160,2160,2160,0,109,109,109,109,42,2065,2160,2160,2160,2160,109,2160	6	0	4	0
chr11	12294842	12294842	A	0	exonic	MICALCL	.	.	.	.	.	612	397	355	151	7	664	0.452791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	20646.17	38	chr11	12294842	.	A	C,*	20646.17	.	AC=13,3;AF=0.382,0.088;AN=34;BaseQRankSum=1.48;DP=1943;ExcessHet=0.0321;FS=0.000;InbreedingCoeff=0.1821;MLEAC=15,3;MLEAF=0.441,0.088;MQ=59.98;MQRankSum=0.00;QD=20.18;ReadPosRankSum=1.33;SOR=0.685	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:100,0,0:100:0:.:.:0,0,2295,0,2295,2295	6	2	6	4
chr11	13009910	13009910	C	A	exonic	RASSF10	.	nonsynonymous SNV	RASSF10:NM_001080521:exon1:c.C334A:p.R112S,	.	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0.0007	0	0	0.0002	0.0050	0.0011	0.0001811	28	154602	rs765590615	0.0002	0.0002	0.0001	0.0002	0.0016	0.0002	0.0001	0.0013	0.0012	3.005e-05	4.631e-05	0	0	0	0.0016	8.77e-05	0.0001	0.0015	0.0001	0.0001	7.708e-05	0.0001	0.0025	7.086e-05	5.743e-05	0.0014	0.0011	4.809e-05	0	0	0	0	0	0	4.411e-05	0	0.0025	.	.	.	0.003	0.76473	D	0.999	0.77913	D	0.923	0.65830	D	.	.	.	.	.	.	.	1.61	0.41143	L	.	.	.	.	.	.	0.728	0.72925	.	.	.	.	.	.	.	0.26250854	0.43720	T	.	.	.	.	.	.	.	0.198526703765	0.19489	0.7705942584205676	0.77008	.	.	0.888641774654	0.95090	D	0.262485	0.63406	T	-0.00677467	0.50715	T	0.176959	0.81820	D	.	.	.	0.956054	0.83312	D	0.34937754	0.57018	0.46655196	0.69049	0.34937754	0.57019	0.46655196	0.69049	-8.328	0.63284	D	.	.	0.991	0.93824	P	.	.	5.114446	0.85514	28.6	0.96561173223563168	0.30261	0.85660	0.44817	D	AEFDBHCIJ	.	.	.	.	.	.	.	.	.	0.999999999999967	0.74766	0.169504	0.03952	1	0.166317	0.03975	0	0.182222	0.04375	1	0.166187	0.04126	0	0.951054	0.62114	4.74	4.74	0.59717	0.309000	0.19094	4.809000	0.45027	0.456000	0.21511	0.986000	0.36153	1.000000	0.68203	0.992000	0.67800	0.1772:0.8228:0.0:0.0	11.700	0.50831	898	0.25240	Ras-associating (RA) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1850.98	34	chr11	13009910	.	C	A	1850.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.499;DP=1080;ExcessHet=0.0000;FS=2.015;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.10;ReadPosRankSum=0.163;SOR=0.537	GT:AD:DP:GQ:PL	0/0:113,0:113:99:0,120,1800	20	0	1	0
chr11	13010508	13010508	C	A	exonic	RASSF10	.	nonsynonymous SNV	RASSF10:NM_001080521:exon1:c.C932A:p.A311D,	.	.	340	1165	16	1	0	18	0.0076661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0034	0.00419329	0.0082	0	0.0112	0	0.0045	0.0146	0	0.0051	0.0018305	283	154602	rs200457508	0.0064	0.0062	0.0065	0.0064	0.0073	0.0063	0.0063	0.0072	0.0071	0.0012	0.0030	0.0103	0	0.0024	0.0067	0.0073	0.0062	0.0017	0.0042	0.0042	0.0046	0.0037	0.0067	0.0039	0.0038	0.0062	0.0060	0.0014	0.0033	0.0036	0.0072	0	0.0017	0.0137	0.0067	0.0043	0.0017	.	.	.	0.627	0.07267	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	.	.	.	-1.5	0.00507	N	.	.	.	.	.	.	0.129	0.12341	.	.	.	.	.	.	.	0.005890757	0.00132	T	.	.	.	.	.	.	.	0.17948927462	0.17512	0.19620850095321724	0.19537	.	.	0.728413641453	0.71275	T	0.011056	0.09913	T	-0.45404	0.01069	T	-0.419847	0.31093	T	.	.	.	0.305069	0.05837	T	0.19861113	0.41770	0.29247585	0.55275	0.19861113	0.41770	0.29247585	0.55274	-3.397	0.15016	T	.	.	0.057	0.00604	B	.	.	1.401140	0.18154	13.58	0.84258461742934376	0.15187	0.06341	0.12339	N	AEFDBCIJ	.	.	.	.	.	.	.	.	.	0.99999994688726	0.74766	0.095506	0.02484	0	0.085267	0.02369	0	0.183864	0.04481	0	0.109499	0.03221	0	0.127789	0.25488	5.06	2.67	0.30756	3.014000	0.49278	7.021000	0.57267	-0.062000	0.16622	1.000000	0.71638	1.000000	0.68203	0.034000	0.13613	0.6881:0.3119:0.0:0.0	10.507	0.44026	898	0.25240	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2723.11	81	chr11	13010508	.	C	A	2723.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.23;DP=984;ExcessHet=0.1072;FS=5.952;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=16.71;ReadPosRankSum=0.939;SOR=0.366	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,99,1485	19	0	2	0
chr11	14498910	14498910	C	T	exonic	COPB1	.	nonsynonymous SNV	COPB1:NM_001144061:exon2:c.G19A:p.V7I	.	.	.	.	.	.	.	.	.	.	.	2431328	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.39	T	0.006	B	0.004	B	0.000	D	1.000	D	-0.205	N	0.99	T	-1.103	T	0.058	T	0.4	3.307	17.11	4.94	1.468	7.818	16.995	0.173	0.0199273320411	.	.	1.675e-05	0	0	0.0001	0	1.523e-05	0	0	1.29e-05	2	154602	rs774061544	1.647e-05	1.984e-05	1.365e-05	1.933e-05	0.0007	1.114e-05	9.37e-06	0.0002	0.0001	3.009e-05	0	0	0.0003	0	0.0007	2.701e-06	8.301e-05	0	4.623e-05	4.604e-05	7.739e-05	1.354e-05	0.0014	2.119e-05	1.533e-05	0.0006	0.0005	0	0	0	0	0.0014	0	0	0	0	0	0.207	0.19854	T	0.517	0.25591	T	0.006	0.13644	B	0.004	0.10090	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.63	0.15941	N	0.99	0.41750	T	-0.64	0.19297	N	0.617	0.64563	-1.1030	0.03747	T	0.058	0.24167	T	10	0.0844799	0.14165	T	0.019927	0.42414	T	0.173	0.43840	0.221	0.14371	0.397490039902	0.39361	0.4280402443609473	0.42721	0.625182808285	0.56699	0.850654840469	0.89714	D	0.183074	0.53529	T	-0.271847	0.11552	T	-0.358966	0.38173	T	0.341344982385635	0.26677	T	0.952105	0.86318	D	0.18128951	0.39292	0.12781943	0.30762	0.18128951	0.39292	0.12781943	0.30761	-4.802	0.34615	T	.	.	0.067	0.02765	B	.;.;.;.;.	.;.;.;.;.	3.738883	0.53529	23.4	0.98843194090250075	0.47152	0.95605	0.65391	D	AEFBCI	0.893021	0.83054	D	-0.34575835015851	0.27429	1.504769	-0.0868488049382321	0.35932	2.084863	0.999999999988489	0.74766	0.660085	0.49399	0	0.685571	0.66316	0	0.662677	0.59975	0	0.638787	0.57140	0	.	.	5.86	4.94	0.64645	7.701000	0.83543	7.690000	0.65738	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.8724:0.1276:0.0	16.995	0.86238	309	0.87553	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	830.98	33	chr11	14498910	.	C	T	830.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.24;DP=780;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.39;ReadPosRankSum=1.42;SOR=0.742	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1111	20	0	1	0
chr11	15149197	15149197	G	A	exonic	INSC	.	nonsynonymous SNV	INSC:NM_001278313:exon1:c.G23A:p.R8H	.	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.954	P	0.482	P	0.009	N	0.987	N	-0.69	N	1.51	T	-1.106	T	0.018	T	0.178	1.527	11.06	4.08	1.343	0.046	9.451	0.074	.	0.0022	0.0107827	0.0049	0.0062	0.0011	0.0122	0	0.0002	0.0023	0.0249	0.0043855	678	154602	rs138418543	0.0023	0.0023	0.0018	0.0027	0.0222	0.0022	0.0022	0.0214	0.0210	0.0066	0.0005	0	0.0182	1.876e-05	0.0017	0.0002	0.0032	0.0222	0.0031	0.0031	0.0026	0.0036	0.0243	0.0028	0.0028	0.0207	0.0194	0.0059	0	0.0010	0	0.0137	0	0	0.0002	0.0024	0.0243	0.065	0.40319	T	0.29	0.21011	T	0.954	0.54400	P	0.361	0.43233	B	0.009037	0.30550	N	0.279911	0.986734	0.24587	N	-0.345	0.03330	N	1.46	0.32238	T	-0.58	0.27669	N	0.25	0.28264	-1.1060	0.03437	T	0.018	0.07282	T	10	0.0043935776	0.00089	T	.	.	.	0.074	0.21613	.	.	0.367992661779	0.36405	0.20868361221835582	0.20784	0.0993098278073	0.11221	0.206981122494	0.00690	T	0.021181	0.16539	T	-0.591724	0.00164	T	-0.604493	0.12436	T	0.0147719467428147	0.00309	T	0.630737	0.25655	T	0.042347066	0.06404	0.037732117	0.03487	0.042347066	0.06404	0.037732117	0.03487	-4.238	0.30269	T	.	.	0.065	0.33226	B	.;.;.;.;.;.	.;.;.;.;.;.	1.343453	0.17504	13.20	0.94034750524717037	0.24151	0.39583	0.26245	N	AEFI	0.138901	0.26033	N	-0.388109764820793	0.25890	1.408936	-0.259473120564666	0.29446	1.649812	0.0108243850526347	0.12088	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.99	4.08	0.46880	0.063000	0.14285	-0.231000	0.10676	-0.106000	0.15538	0.714000	0.28761	0.000000	0.08366	0.799000	0.37691	0.0954:0.0:0.9046:0.0	9.451	0.37887	812	0.42537	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	358.98	41	chr11	15149197	.	G	A	358.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.720e-01;DP=817;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=0.333;SOR=0.473	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1150	20	0	1	0
chr11	15190718	15190718	T	G	exonic	INSC	.	nonsynonymous SNV	INSC:NM_001278313:exon5:c.T597G:p.I199M	.	.	.	.	.	.	.	.	.	.	.	2456192	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.995	D	0.841	P	0.000	D	0.991	D	1.445	L	0.77	T	-0.797	T	0.150	T	0.893	3.663	18.62	-3.96	-0.742	-1.340	9.546	0.220	0.0139706971671	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1348527627	6.843e-07	6.84e-07	0	1.375e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.63226	D	0.009	0.69154	D	0.967	0.56408	D	0.711	0.54536	P	0.000000	0.84330	D	0.051719	0.990573	0.41189	D	0.805	0.20218	L	0.75	0.50192	T	-1.38	0.36189	N	0.755	0.75834	-0.7972	0.55309	T	0.150	0.47787	T	10	0.41366106	0.56395	T	0.013971	0.33765	T	0.220	0.51569	0.208	0.12497	0.429552544315	0.42571	0.33729431892773876	0.33642	0.0851224743082	0.09619	0.62581807375	0.56552	T	0.064755	0.32516	T	0.134606	0.67807	D	-0.0444243	0.67402	D	0.815301358699799	0.47427	D	0.870713	0.57621	D	0.31970492	0.54615	0.2638349	0.52195	0.31970492	0.54615	0.2638349	0.52194	-2.323	0.10063	T	.	.	0.079	0.11558	B	.;.;.;.;.;.	.;.;.;.;.;.	0.687690	0.10564	7.271	0.9905253050292383	0.51298	0.07562	0.13574	N	AEFBI	0.109180	0.21694	N	-0.251693941629113	0.31036	1.736335	-0.369676540472539	0.25907	1.427595	0.0437167085733527	0.14582	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.16	-3.96	0.03833	-1.522000	0.02341	-7.713000	0.01100	0.661000	0.55757	0.028000	0.20300	0.000000	0.08366	0.998000	0.85391	0.1074:0.5385:0.0:0.354	9.546	0.38444	866	0.32446	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2350.98	33	chr11	15190718	.	T	G	2350.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.260e-01;DP=901;ExcessHet=0.0000;FS=1.757;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=0.853;SOR=0.573	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1247	20	0	1	0
chr11	16803052	16803052	C	T	exonic	PLEKHA7	.	nonsynonymous SNV	PLEKHA7:NM_001329630:exon15:c.G2077A:p.V693I	.	.	426	1051	45	0	0	45	0.0209595	0.9991	0.924	712742	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.04	D	0.995	D	0.867	P	0.000	D	1.000	D	2.215	M	1.41	T	-0.980	T	0.075	T	0.497	5.112	32	5.84	2.768	7.272	19.738	0.205	.	0.0057	0.0061901	0.0068	0.0010	0.0043	0	0.0005	0.0093	0.0132	0.0081	0.006811	1053	154602	rs34556458	0.0072	0.0072	0.0070	0.0074	0.0158	0.0071	0.0070	0.0132	0.0122	0.0010	0.0073	0.0137	0	0.0008	0.0158	0.0075	0.0093	0.0093	0.0062	0.0062	0.0065	0.0060	0.0144	0.0059	0.0058	0.0128	0.0122	0.0012	0.0318	0.0144	0.0182	0	0.0003	0.0068	0.0079	0.0080	0.0056	0.145	0.26629	T	0.02	0.60337	D	0.993	0.65571	D	0.867	0.61644	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.495	0.72670	M	1.41	0.33412	T	-0.91	0.24898	N	0.573	0.61002	-0.9799	0.35025	T	0.075	0.30179	T	10	0.008751154	0.00198	T	0.020689	0.43334	T	0.205	0.49236	.	.	0.518312163451	0.51475	0.1348328318978361	0.13407	0.382416266666	0.39573	0.5265879035	0.42554	T	0.101757	0.45820	T	-0.364331	0.03891	T	-0.289715	0.45803	T	0.0326651706824307	0.02415	T	0.948705	0.84924	D	0.1497537	0.34125	0.12526728	0.30185	0.1497537	0.34125	0.12526728	0.30185	-10.164	0.74887	D	.	.	0.122	0.33619	B	.;.;.;.	.;.;.;.	5.222615	0.87654	29.3	0.99881861977095354	0.95813	0.98095	0.79555	D	AEFBI	0.910331	0.86811	D	0.732525050951995	0.81765	7.599305	0.760500743838028	0.86941	9.053152	0.99999999999915	0.74766	0.661447	0.50134	0	0.610034	0.51514	0	0.644132	0.48003	0	0.655142	0.61905	0	.	.	5.84	5.84	0.93373	7.568000	0.81546	7.582000	0.60992	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	19.738	0.96210	566	0.70798	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	595.98	35	chr11	16803052	.	C	T	595.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.040;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.45;ReadPosRankSum=-1.115e+00;SOR=0.663	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr11	17386938	17386938	G	C	exonic	KCNJ11	.	nonsynonymous SNV	KCNJ11:NM_000525:exon1:c.C1154G:p.S385C	Diabetes mellitus, transient neonatal, 3, Autosomal dominant;Diabetes, permanent neonatal, with or without neurologic features, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 2, Autosomal recessive;Maturity-onset diabetes of the young, type 13, Autosomal dominant	.	0	1468	52	2	0	56	0.0187166	.	.	45093	Neonatal_diabetes_mellitus|not_provided|Diabetes_mellitus,_transient_neonatal,_3|Hyperinsulinemic_hypoglycemia,_familial,_2|Monogenic_diabetes|Maturity-onset_diabetes_of_the_young_type_13|not_specified|Maturity_onset_diabetes_mellitus_in_young	MONDO:MONDO:0016391,MedGen:C0158981,Orphanet:224|MedGen:C3661900|MONDO:MONDO:0012522,MedGen:C1864623,OMIM:610582,Orphanet:99886|MONDO:MONDO:0011153,MedGen:C2931833,OMIM:601820,Orphanet:276580,Orphanet:276603|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MONDO:MONDO:0014589,MedGen:C4225365,OMIM:616329,Orphanet:552|MedGen:CN169374|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.38	B	0.308	B	0.608	N	0.615	D	1.67	L	-2.25	D	0.183	D	0.417	T	0.259	2.088	12.94	5.17	2.398	3.469	14.127	0.369	.	0.0102	0.0109824	0.0050	0.0231	0.0028	0	0	0.0034	0.0154	0.0055	0.004683	724	154602	rs41282930	0.0033	0.0034	0.0033	0.0034	0.0253	0.0033	0.0032	0.0239	0.0234	0.0253	0.0038	0.0101	0.0001	0.0002	0.0245	0.0024	0.0059	0.0055	0.0094	0.0095	0.0097	0.0091	0.0246	0.0090	0.0089	0.0233	0.0228	0.0246	0	0.0085	0.0118	0.0002	0.0003	0.0340	0.0028	0.0133	0.0033	0.002	0.72154	D	0.009	0.66756	D	.	.	.	.	.	.	0.607718	0.10897	N	0.819694	0.614702	0.32652	D	.	.	.	-2.37	0.88220	D	-1.7	0.40468	N	0.174	0.18649	0.183	0.85615	D	0.417	0.76367	T	10	0.005117476	0.00111	T	.	.	.	0.369	0.68844	.	.	0.958566052307	0.95812	0.4760188451649058	0.47520	0.812429226841	0.66793	0.495120823383	0.38149	T	.	.	.	-0.300228	0.08639	T	-0.18578	0.55983	T	0.0173762586484723	0.00475	T	0.715628	0.32820	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.09385	B	.;.	.;.	3.729829	0.53349	23.4	0.97812369977749791	0.36136	0.46035	0.27671	N	AEFDGBHCI	0.289475	0.40111	N	0.241689725135397	0.53230	3.492802	0.337379174047973	0.57750	3.94205	0.999999999991511	0.74766	0.696267	0.57585	0	0.703908	0.78521	0	0.691665	0.62940	0	0.691587	0.68394	0	.	.	5.17	5.17	0.70848	3.069000	0.49724	7.525000	0.59824	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.1495:0.8505:0.0	14.127	0.64762	590	0.68897	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	2027.11	83	chr11	17386938	.	G	C	2027.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.114;DP=1324;ExcessHet=0.1072;FS=2.566;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.50;ReadPosRankSum=0.655;SOR=0.504	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	19	0	2	0
chr11	17501054	17501054	G	A	exonic	USH1C	.	nonsynonymous SNV	USH1C:NM_001297764:exon17:c.C1420T:p.H474Y	Deafness, autosomal recessive 18A, Autosomal recessive;Usher syndrome, type 1C, Autosomal recessive	.	0	1519	2	1	0	4	0.00131492	.	.	918345	not_provided|Usher_syndrome_type_1C|Inborn_genetic_diseases|Autosomal_recessive_nonsyndromic_hearing_loss_18A|Usher_syndrome_type_1|not_specified	MedGen:C3661900|MONDO:MONDO:0010171,MedGen:C1848604,OMIM:276904,Orphanet:231169,Orphanet:886|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011192,MedGen:C1865870,OMIM:602092,Orphanet:90636|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.991	D	0.99	D	0.002	N	1.000	D	1.95	M	1.56	T	-0.896	T	0.183	T	0.802	3.643	18.52	5.27	2.741	7.942	17.838	0.178	0.0368156333547	7.7e-05	.	5.483e-05	0	0	0	0	9.962e-05	0	0	3.88e-05	6	154602	rs372227474	5.613e-05	5.746e-05	5.857e-05	5.366e-05	0.0042	4.613e-05	4.239e-05	0.0029	0.0024	0	0	0	0	0	0.0042	4.588e-05	8.284e-05	2.321e-05	5.251e-05	5.249e-05	6.422e-05	4.027e-05	0.0001	2.555e-05	1.828e-05	4.765e-05	3.339e-05	0	0	0	0	0	0	0.0034	0.0001	0	0	0.003	0.91255	D	0.0	0.92824	D	0.991	0.64070	D	0.99	0.78936	D	0.001912	0.37691	N	0.230078	0.999886	0.50402	D	1.905	0.50856	L	1.56	0.29602	T	-2.87	0.62343	D	0.802	0.79792	-0.8962	0.48370	T	0.183	0.53057	T	10	0.75131774	0.75658	D	0.036816	0.57230	D	0.178	0.44724	.	.	0.697512050345	0.69490	0.7534891188033478	0.75295	0.412284758996	0.41973	0.696432709694	0.66629	T	0.217512	0.57998	T	-0.0460403	0.45046	T	-0.0885751	0.64270	T	0.416295014187817	0.29553	T	0.958704	0.85096	D	0.4117519	0.61538	0.3995185	0.64513	0.4117519	0.61538	0.3995185	0.64513	-8.618	0.65778	D	.	.	0.508	0.69115	A	.;.;.;.	.;.;.;.	4.564832	0.71961	25.8	0.99768482520986057	0.85666	0.97255	0.73611	D	AEFDBI	0.955033	0.97257	D	0.497460350861354	0.66941	5.015858	0.504125274649023	0.68267	5.196595	0.999999999729673	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.27	5.27	0.73797	7.925000	0.86993	11.619000	0.93604	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.114000	0.18915	0.0:0.0:1.0:0.0	17.838	0.88618	835	0.38313	PDZ domain|PDZ domain|PDZ domain;.;PDZ domain|PDZ domain|PDZ domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1200.98	34	chr11	17501054	.	G	A	1200.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.471e+00;DP=835;ExcessHet=0.0000;FS=2.272;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.24;ReadPosRankSum=-1.317e+00;SOR=0.703	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1465	20	0	1	0
chr11	17527313	17527313	G	A	exonic	USH1C	.	nonsynonymous SNV	USH1C:NM_001297764:exon5:c.C406T:p.R136W	Deafness, autosomal recessive 18A, Autosomal recessive;Usher syndrome, type 1C, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	326732	Inborn_genetic_diseases|not_provided|Usher_syndrome_type_1C|not_specified	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0010171,MedGen:C1848604,OMIM:276904,Orphanet:231169,Orphanet:886|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.91	M	2.25	T	-0.835	T	0.137	T	0.926	4.424	23.5	4.16	2.373	7.110	13.319	0.527	0.253939305336	7.7e-05	0.000199681	7.432e-05	9.653e-05	0	0.0001	0	0.0001	0	0	6.47e-05	10	154602	rs368903400	3.492e-05	3.557e-05	4.36e-05	2.615e-05	0.0005	2.699e-05	2.44e-05	0.0001	7.56e-05	8.961e-05	8.944e-05	0	0.0001	0	0.0005	2.158e-05	0.0001	4.637e-05	7.246e-05	7.22e-05	5.152e-05	9.439e-05	0.0003	3.981e-05	3.135e-05	8.893e-05	5.397e-05	2.415e-05	0	0.0003	0	0.0002	0	0	5.89e-05	0.0005	0	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.15	0.60148	M	2.25	0.17761	T	-7.12	0.94729	D	0.932	0.95021	-0.8348	0.52989	T	0.137	0.45394	T	10	0.80008686	0.79423	D	0.253939	0.89231	D	0.527	0.80007	.	.	0.780577928845	0.77855	0.6958418196185627	0.69525	0.395326890561	0.40677	0.797374606133	0.81563	T	0.261734	0.63324	T	0.0745486	0.61396	D	0.105976	0.77305	D	0.697272658348083	0.40589	D	0.979502	0.96302	D	0.8228303	0.85411	0.8433234	0.91059	0.87615687	0.89355	0.8281613	0.90066	-10.871	0.80376	D	.	.	0.710	0.77631	P	.;.;.;.;.	.;.;.;.;.	5.969471	0.94217	34	0.99909138878715587	0.97875	0.96252	0.68237	D	AEFDBI	0.948221	0.95961	D	0.838487428185637	0.88443	9.58029	0.768163898963396	0.87509	9.246023	0.999727808109063	0.42220	0.646311	0.45356	0	0.563428	0.19063	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	5.13	4.16	0.48138	7.669000	0.82880	8.521000	0.77423	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.8411:0.1588	13.319	0.59862	740	0.53092	PDZ domain|PDZ domain|PDZ domain;.;PDZ domain|PDZ domain|PDZ domain;.;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1102.98	37	chr11	17527313	.	G	A	1102.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.512;DP=823;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=0.194;SOR=0.639	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1302	20	0	1	0
chr11	17572108	17572108	C	T	exonic	OTOG	.	nonsynonymous SNV	OTOG:NM_001277269:exon17:c.C2020T:p.P674S	Deafness, autosomal recessive 18B, Autosomal recessive	.	9	1510	3	0	0	3	0.000992392	.	.	497189	OTOG-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.57	T	.	.	.	.	0.001	U	1.000	D	1.7	L	2.45	T	-1.118	T	0.063	T	0.378	4.527	24.4	4.48	1.259	5.536	15.798	0.162	0.0267565357533	.	0.000199681	0.0019	0	0	0.0021	0	0.0008	0	0.0031	0.0002458	38	154602	rs547173007	0.0004	0.0004	0.0004	0.0005	0.0024	0.0004	0.0004	0.0021	0.0020	9.494e-05	0.0002	0.0015	8.395e-05	0.0001	0.0016	0.0003	0.0004	0.0024	0.0004	0.0004	0.0003	0.0004	0.0023	0.0003	0.0003	0.0013	0.0010	0	0.0044	0.0001	0.0017	0	0.0003	0	0.0005	0.0009	0.0023	0.007	0.59928	D	0.006	0.70582	D	.	.	.	.	.	.	0.001101	0.40303	U	0.100924	0.999985	0.54805	D	1.54	0.38927	L	2.35	0.16217	T	-7.06	0.93879	D	0.498	0.53093	-1.1178	0.02476	T	0.063	0.26172	T	8	0.011637777	0.00253	T	0.026757	0.49639	D	0.162	0.41843	.	.	0.219573609325	0.21563	0.8066944055695792	0.80624	.	.	0.657042741776	0.60987	T	0.419847	0.77174	T	-0.448929	0.01146	T	-0.422559	0.30783	T	0.143607959532727	0.16582	T	0.925507	0.72634	D	0.42001587	0.62092	0.45461687	0.68289	0.36612624	0.58298	0.47819626	0.69772	-8.306	0.63136	D	.	.	0.208	0.45617	B	.;.	.;.	3.652999	0.51852	23.2	0.99888666756302069	0.96359	0.97679	0.76359	D	AEFBCI	0.710560	0.66429	D	0.203593060687079	0.51372	3.319084	0.273156754490913	0.53978	3.564266	0.999992560150406	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.4	4.48	0.53973	5.852000	0.69220	4.864000	0.45499	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.8632:0.1367:0.0	15.798	0.78197	819	0.41190	von Willebrand factor, type D domain;von Willebrand factor, type D domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	911.98	35	chr11	17572108	.	C	T	911.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.81;DP=821;ExcessHet=0.0000;FS=5.990;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.24;ReadPosRankSum=1.64;SOR=0.905	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1307	20	0	1	0
chr11	17593203	17593203	A	T	exonic	OTOG	.	nonsynonymous SNV	OTOG:NM_001277269:exon25:c.A3053T:p.D1018V	Deafness, autosomal recessive 18B, Autosomal recessive	.	7	1513	2	0	0	2	0.000660502	.	.	497378	not_specified|OTOG-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.12	T	0.893	P	0.544	P	0.074	N	1.000	N	2.015	M	0.22	T	-0.777	T	0.209	T	0.432	1.814	12.02	5.13	2.143	1.959	6.489	0.325	0.080900159215	.	0.000399361	0.0003	0	0.0035	0	0	0	0.0053	0.0004	4.53e-05	7	154602	rs551850126	0.0001	0.0001	9.599e-05	0.0002	0.0032	0.0001	0.0001	0.0027	0.0025	0	0	0	0.0032	0	0	6.49e-06	0.0001	0.0007	0.0002	0.0002	0.0001	0.0002	0.0042	0.0001	0.0001	0.0029	0.0024	0	0	0	0	0.0042	0	0	0	0	0.0015	0.004	0.65419	D	0.02	0.58613	D	.	.	.	.	.	.	0.073973	0.21313	N	0.413240	0.999914	0.20048	N	2.195	0.61839	M	0.22	0.59851	T	-5.61	0.86686	D	0.31	0.34981	-0.7767	0.56487	T	0.209	0.56919	T	10	0.017776072	0.00382	T	0.081	0.73563	D	0.325	0.64725	0.698	0.83499	0.599642478305	0.59644	0.5440251296040252	0.54328	.	.	0.321005016565	0.13574	T	0.21291	0.57408	T	-0.375685	0.03316	T	-0.311606	0.43486	T	0.114034907326935	0.13836	T	0.80032	0.44603	T	0.22934237	0.45670	0.3539208	0.60945	0.23432253	0.46251	0.2280202	0.47829	-7.82	0.59837	D	.	.	0.120	0.24833	B	.;.	.;.	1.975105	0.25092	16.64	0.93083476671009191	0.22704	0.27128	0.23190	N	AEFDBI	0.216009	0.34130	N	-0.07413982348203	0.38529	2.258038	-0.204053541072322	0.31390	1.776038	0.0582356116081893	0.15120	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.13	5.13	0.69729	1.860000	0.39068	9.309000	0.79942	0.756000	0.94297	0.026000	0.20160	1.000000	0.68203	0.146000	0.20164	0.5951:0.2718:0.0:0.1332	6.489	0.21303	802	0.44336	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1738.98	35	chr11	17593203	.	A	T	1738.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.805e+00;DP=835;ExcessHet=0.0000;FS=0.637;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.79;ReadPosRankSum=0.792;SOR=0.772	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1191	20	0	1	0
chr11	17611374	17611374	C	T	exonic	OTOG	.	nonsynonymous SNV	OTOG:NM_001277269:exon35:c.C6110T:p.A2037V	Deafness, autosomal recessive 18B, Autosomal recessive	.	8	1506	8	0	0	8	0.00264901	.	.	230135	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_18B|not_specified|Meniere_disease|OTOG-related_disorder	MedGen:C3661900|MONDO:MONDO:0013985,MedGen:C3554163,OMIM:614945,Orphanet:90636|MedGen:CN169374|MONDO:MONDO:0007972,MedGen:C0025281,OMIM:156000|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.43	T	0.972	D	0.367	B	0.955	N	1.000	N	1.7	L	2.77	T	-1.016	T	0.027	T	0.037	1.507	10.99	1.18	0.067	0.039	6.788	0.055	.	.	0.00339457	0.0037	0.0058	0.0075	0	0	0.0015	0	0.0066	0.0006727	104	154602	rs61736002	0.0014	0.0013	0.0013	0.0015	0.0063	0.0014	0.0013	0.0047	0.0044	0.0042	0.0050	0.0025	5.628e-05	0	0.0063	0.0009	0.0030	0.0050	0.0024	0.0024	0.0023	0.0026	0.0073	0.0022	0.0021	0.0060	0.0056	0.0033	0	0.0071	0.0014	0	0	0.0102	0.0010	0.0043	0.0073	0.201	0.20306	T	0.065	0.44702	T	.	.	.	.	.	.	0.955210	0.08260	N	0.979822	1	0.08975	N	2.245	0.63543	M	2.34	0.16351	T	-0.4	0.13805	N	0.041	0.01421	-1.0159	0.25045	T	0.027	0.11618	T	10	0.004099995	0.00081	T	.	.	.	0.055	0.15663	.	.	0.0297737177859	0.01360	0.4108811085175969	0.41004	.	.	0.271751970053	0.06371	T	0.021941	0.17000	T	-0.704935	0.00034	T	-0.784689	0.02315	T	0.00436496151355306	0.00047	T	0.59614	0.22137	T	0.020414932	0.00599	0.041731935	0.04809	0.021152996	0.00703	0.04009719	0.04256	-4.2	0.26751	T	.	.	0.094	0.14431	B	.;.	.;.	0.892266	0.12656	9.182	0.97933854420936772	0.36978	0.03860	0.09219	N	AEFDBI	0.051649	0.09146	N	-0.706393868893595	0.15842	0.801962	-0.858077467460739	0.13093	0.6773549	3.52298344120681E-4	0.06668	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.12	1.18	0.20058	0.368000	0.20132	0.375000	0.17719	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.6111:0.0:0.3889	6.788	0.22869	711	0.56613	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	769.98	61	chr11	17611374	.	C	T	769.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.500e-01;DP=1216;ExcessHet=0.0000;FS=0.782;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.02;ReadPosRankSum=0.041;SOR=0.847	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	20	0	1	0
chr11	17642173	17642173	G	C	exonic	OTOG	.	nonsynonymous SNV	OTOG:NM_001277269:exon52:c.G8378C:p.S2793T	Deafness, autosomal recessive 18B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	.	.	.	.	0.128	U	1.000	N	0.695	N	2.45	T	-1.004	T	0.025	T	0.192	1.707	11.67	2.94	1.072	1.017	5.334	0.015	0.0240615396344	.	0.000199681	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs576084175	9.3e-06	8.893e-06	5.646e-06	1.305e-05	0.0001	5.19e-06	4e-06	6.767e-05	5.136e-05	0	0	0	0	0	0	2.781e-06	0	0.0001	2.626e-05	2.624e-05	2.569e-05	2.685e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.24	0.17701	T	0.103	0.38305	T	.	.	.	.	.	.	0.127996	0.18747	U	0.460617	0.996471	0.23003	N	0.345	0.11182	N	2.34	0.16351	T	-0.99	0.26200	N	0.16	0.17553	-1.0045	0.28607	T	0.025	0.10598	T	8	0.056983143	0.06474	T	0.024062	0.47042	T	0.015	0.02232	0.417	0.45709	0.117506650769	0.11410	0.23721367024150786	0.23636	.	.	0.44744104147	0.31594	T	0.042287	0.26133	T	-0.274154	0.11299	T	-0.631579	0.10296	T	0.0831810068288361	0.10389	T	0.590841	0.21745	T	0.054059047	0.10320	0.07198592	0.15479	0.054059047	0.10319	0.07198592	0.15479	-3.777	0.20461	T	.	.	0.098	0.16054	B	.;.	.;.	1.204732	0.15971	12.23	0.91037606351440969	0.20289	0.86808	0.46171	D	AEFDBI	0.422752	0.48862	N	-0.177821843177342	0.34059	1.939542	-0.114924398839571	0.34787	2.005076	0.00542423905233858	0.10934	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.09	2.94	0.33188	1.058000	0.30114	0.572000	0.19617	-0.169000	0.11342	0.993000	0.37899	0.041000	0.21590	0.623000	0.31974	0.4701:0.0:0.5299:0.0	5.334	0.15255	677	0.60274	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1510.98	60	chr11	17642173	.	G	C	1510.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.754;DP=982;ExcessHet=0.0000;FS=1.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.42;ReadPosRankSum=1.36;SOR=0.849	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1392	20	0	1	0
chr11	17645766	17645766	G	A	exonic	OTOG	.	nonsynonymous SNV	OTOG:NM_001277269:exon55:c.G8600A:p.G2867E	Deafness, autosomal recessive 18B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.000	U	1.000	D	2.35	M	-0.26	T	0.027	D	0.470	T	0.96	4.748	26.5	5.03	2.349	9.041	18.390	0.784	0.363220153986	.	.	.	.	.	.	.	.	.	.	.	.	.	rs907875442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	0.000027	0.55875	U	0.000000	1	0.81001	D	2.19	0.61577	M	-0.38	0.69027	T	-7.03	0.93810	D	0.958	0.96758	0.027	0.82784	D	0.470	0.79615	T	8	0.9312945	0.92467	D	0.36322	0.92564	D	0.784	0.92827	0.762	0.89053	0.517047913619	0.51347	0.8224564286535236	0.82202	.	.	0.848792076111	0.89432	D	0.645381	0.89174	D	0.339774	0.85819	D	0.250286	0.85633	D	0.996150612831116	0.88774	D	0.928407	0.73561	D	0.84891707	0.87256	0.8922011	0.94423	0.84891707	0.87257	0.8922011	0.94423	-11.867	0.84197	D	.	.	0.996	0.95940	P	.;.	.;.	5.076338	0.84698	28.4	0.9975164426379437	0.84305	0.98439	0.82789	D	AEFBI	0.899083	0.84308	D	0.560327656848576	0.70714	5.542132	0.589398487875803	0.74179	6.093086	0.999999999363928	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	5.03	5.03	0.67015	9.163000	0.93904	11.713000	0.94685	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	18.390	0.90422	686	0.59327	Cystine knot, C-terminal|Cystine knot, C-terminal;Cystine knot, C-terminal|Cystine knot, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2484.98	125	chr11	17645766	.	G	A	2484.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=1021;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.00;ReadPosRankSum=0.341;SOR=0.712	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr11	18006653	18006653	G	C	exonic	SERGEF	.	nonsynonymous SNV	SERGEF:NM_012139:exon3:c.C290G:p.S97C,	.	.	428	1076	18	0	0	18	0.00829493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.995	D	0.706	P	0.282	N	1.000	D	1.555	L	-1.44	T	-0.035	T	0.507	D	0.546	3.575	18.22	5.15	1.555	1.459	12.467	0.520	0.045683071934	0.0002	0.000599042	0.0010	0	0.0002	0	0	8.995e-05	0.0033	0.0069	0.0008344	129	154602	rs368889802	0.0005	0.0005	0.0003	0.0007	0.0069	0.0004	0.0004	0.0065	0.0063	0	2.236e-05	0	0	0	0.0010	4.676e-05	0.0006	0.0069	0.0002	0.0002	6.425e-05	0.0003	0.0046	0.0001	9.698e-05	0.0031	0.0026	0	0	0	0	0	0	0	4.41e-05	0	0.0046	0.194	0.21968	T	0.176	0.30926	T	0.995	0.67487	D	0.706	0.54345	P	0.282201	0.14924	N	0.703897	1	0.81001	D	2.36	0.67893	M	-1.44	0.80815	T	-1.82	0.42957	N	0.497	0.53006	-0.0353	0.81519	T	0.507	0.81464	D	10	0.011652917	0.00254	T	0.045683	0.62099	D	0.520	0.79583	.	.	0.821898614301	0.82022	0.5395635485454993	0.53881	0.585799155642	0.54207	0.382282555103	0.22581	T	0.281386	0.65411	T	-0.262316	0.12630	T	-0.14529	0.59658	T	0.0920561014578816	0.11459	T	0.773923	0.40554	T	0.11058673	0.26138	0.08389478	0.19260	0.11058673	0.26138	0.08389478	0.19260	-8.945	0.67342	D	.	.	0.089	0.21049	B	.;.	.;.	3.910147	0.57021	23.8	0.98182282533156762	0.38958	0.79769	0.39593	D	AEFBI	0.188162	0.31545	N	0.366684513315024	0.59625	4.143584	0.378180577250926	0.60221	4.207421	0.999999542270888	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645948	0.59608	0	.	.	6.06	5.15	0.70287	1.779000	0.38254	5.595000	0.49008	0.676000	0.76740	0.891000	0.31220	0.992000	0.31684	0.991000	0.66497	0.0782:0.0:0.9218:0.0	12.467	0.55106	538	0.73119	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2455.11	34	chr11	18006653	.	G	C	2455.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.75;DP=866;ExcessHet=0.1072;FS=0.531;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.85;ReadPosRankSum=-1.550e-01;SOR=0.628	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1146	19	0	2	0
chr11	18173456	18173456	A	G	exonic	MRGPRX4	.	nonsynonymous SNV	MRGPRX4:NM_054032:exon1:c.A200G:p.N67S,	.	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.986	D	0.913	D	0.000	D	0.840	N	1.78	L	3.02	T	-1.144	T	0.045	T	0.395	3.538	18.06	2.95	1.364	2.907	9.289	0.211	0.00190245605865	.	.	0.0002	0	0	0	0	4.496e-05	0	0.0015	0.0001876	29	154602	rs747743643	0.0001	0.0001	8.303e-05	0.0002	0.0014	0.0001	0.0001	0.0012	0.0011	5.974e-05	4.472e-05	3.826e-05	5.038e-05	0	0.0005	3.597e-05	0.0002	0.0014	3.946e-05	4.598e-05	1.286e-05	6.734e-05	0.0006	1.717e-05	1.13e-05	0.0002	9.036e-05	2.417e-05	0	0	0	0	0	0	2.941e-05	0	0.0006	0.105	0.29823	T	0.036	0.52060	D	0.986	0.61523	D	0.913	0.64886	D	0.000434	0.44522	D	0.157768	0.84047	0.28637	N	2.72	0.79541	M	3.02	0.08986	T	-4.71	0.79915	D	0.381	0.42247	-1.1438	0.01222	T	0.045	0.19478	T	10	0.13986102	0.26589	T	0.001902	0.03351	T	0.211	0.50185	0.659	0.79689	0.557167593849	0.55376	0.41473580008732486	0.41389	0.547654276745	0.51731	0.28593981266	0.08334	T	0.030	0.21607	T	-0.447184	0.01173	T	-0.455659	0.27072	T	0.8370161652565	0.49085	D	0.789321	0.42944	T	0.44402578	0.63661	0.3685553	0.62142	0.44402578	0.63662	0.3685553	0.62142	-7.445	0.57222	T	.	.	0.169	0.37159	B	.	.	2.910177	0.38601	20.8	0.99746118524729044	0.83852	0.76535	0.37544	D	AEFGBHCI	0.230065	0.35349	N	0.219707657916073	0.52157	3.391507	0.0918020980795939	0.44134	2.701187	0.981396938995584	0.30257	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.95	2.95	0.33285	4.457000	0.59826	0.075000	0.14313	0.632000	0.51917	1.000000	0.71638	0.000000	0.08366	0.027000	0.12703	1.0:0.0:0.0:0.0	9.289	0.36938	840	0.37365	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3139.98	173	chr11	18173456	.	A	G	3139.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=3198;ExcessHet=0.0000;FS=0.498;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.40;ReadPosRankSum=-2.019e+00;SOR=0.647	GT:AD:DP:GQ:PL	0/0:225,0:225:99:0,120,1800	20	0	1	0
chr11	18231579	18231579	C	T	exonic	SAA2-SAA4;SAA4	.	nonsynonymous SNV	SAA4:NM_006512:exon4:c.G316A:p.E106K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.262	B	0.02	B	.	.	1.000	N	1.04	L	1.94	T	-1.040	T	0.036	T	0.303	1.906	12.33	2.32	0.476	3.308	8.627	0.096	0.00527401067466	.	0.000199681	3.295e-05	0	0	0.0001	0	4.497e-05	0	0	3.23e-05	5	154602	rs200085015	8.893e-06	8.893e-06	9.528e-06	8.25e-06	0.0001	4.96e-06	3.82e-06	4.907e-05	3.165e-05	0	0	0	0.0001	1.872e-05	0	6.295e-06	0	0	1.97e-05	1.968e-05	2.57e-05	1.343e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.394e-05	0	0	0	0	0.0006	0	0	0	0	0	0.017	0.51248	D	0.014	0.63918	D	0.262	0.31549	B	0.02	0.19048	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	1.94	0.22678	T	-0.63	0.18459	N	0.21	0.31365	-1.0401	0.17283	T	0.036	0.15334	T	9	0.07636428	0.11921	T	0.005274	0.13464	T	0.096	0.27654	.	.	0.0551355673512	0.04727	0.49940357649739414	0.54597	0.0812789107097	0.09142	0.275446951389	0.06866	T	0.102201	0.40969	T	-0.362671	0.03981	T	-0.533027	0.18985	T	0.065338795309652	0.07982	T	0.80342	0.45053	T	0.08088861	0.18559	0.0576278	0.10508	0.08088861	0.18559	0.0576278	0.10508	-3.268	0.13328	T	.	.	0.075	0.10062	B	.;.	.;.	1.691711	0.21554	15.25	0.97712105836762653	0.35501	0.28539	0.23582	N	AEFBCI	0.168316	0.29506	N	-0.737676064092813	0.14970	0.7503569	-0.753588153150451	0.15635	0.8232357	0.825661293152152	0.24602	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	3.26	2.32	0.27895	2.057000	0.40991	1.448000	0.26583	-1.575000	0.00928	0.978000	0.35038	0.003000	0.18671	0.000000	0.00833	0.0:0.2442:0.7558:0.0	8.627	0.33056	862	0.33134	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1153.98	34	chr11	18231579	.	C	T	1153.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.994;DP=828;ExcessHet=0.0000;FS=9.152;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=1.04;SOR=1.221	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,111,1437	20	0	1	0
chr11	18247969	18247969	T	C	exonic	SAA2;SAA2-SAA4	.	nonsynonymous SNV	SAA2:NM_001127380:exon2:c.A43G:p.S15G	.	.	424	1069	29	0	0	29	0.0133826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.017	N	1.000	N	.	.	3.35	T	-0.962	T	0.017	T	0.087	-0.006	3.984	2.08	0.510	0.167	4.536	0.019	0.00177383205572	.	.	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs712021	0.0002	0.0018	0.0001	0.0003	0.0024	0.0002	0.0002	0.0021	0.0020	0	6.772e-05	0	0.0006	0.0004	0	5.609e-05	0.0002	0.0024	0.0005	0.0036	0.0003	0.0006	0.0016	0.0004	0.0003	0.0007	0.0005	0.0006	0	0.0003	0	0.0006	0.0007	0	0.0004	0.0005	0.0016	1.0	0.00964	T	0.654	0.06643	T	0.0	0.02946	B	0.0	0.01387	B	0.017200	0.27786	N	0.327305	1	0.08975	N	-2.83	0.00022	N	2.15	0.19990	T	2.7	0.00304	N	0.133	0.12913	-0.9615	0.38897	T	0.017	0.06950	T	9	0.030165315	0.01143	T	0.001774	0.03012	T	0.019	0.03383	.	.	0.0401082797425	0.02173	0.04139099236084914	0.24331	1.5434244008	0.87773	0.351255208254	0.18106	T	0.075674	0.35233	T	-0.350743	0.04680	T	-0.741595	0.03823	T	0.0246311460941919	0.01225	T	0.184981	0.05950	T	0.028958477	0.02314	0.0413899	0.04694	0.028958477	0.02313	0.0413899	0.04694	-3.826	0.21193	T	.	.	0.047	0.00069	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.457001	0.08270	5.012	0.60941765000311832	0.06586	0.00054	0.00410	N	AEFDGBI	0.047508	0.08007	N	-1.0549573913247	0.07491	0.3481452	-1.03460989437403	0.09029	0.4470526	0.754955816509007	0.23418	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.2	2.08	0.26079	0.227000	0.17575	0.987000	0.23166	-0.808000	0.03092	0.374000	0.25957	0.004000	0.18990	0.035000	0.13729	0.3892:0.5034:0.0:0.1073	4.536	0.11435	862	0.33134	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	74.11	34	chr11	18247969	.	T	C	74.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.25;DP=942;ExcessHet=0.1072;FS=76.986;InbreedingCoeff=-0.0499;MLEAC=2;MLEAF=0.048;MQ=48.11;MQRankSum=-5.092e+00;QD=0.27;ReadPosRankSum=-1.295e+00;SOR=6.739	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1177	19	0	2	0
chr11	18506904	18506904	C	T	exonic	TSG101	.	nonsynonymous SNV	TSG101:NM_006292:exon6:c.G501A:p.M167I,	Breast cancer, somatic	.	8	1512	2	0	0	2	0.000660939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.018	B	0.01	B	0.000	D	1.000	D	1.87	L	1.02	T	-1.081	T	0.060	T	0.227	2.251	13.49	5.96	2.831	4.289	15.010	0.104	.	0.0076	0.00559105	0.0019	0.0214	0.0010	0	0	0	0.0022	0	0.0018111	280	154602	rs34385327	0.0006	0.0006	0.0007	0.0005	0.0222	0.0006	0.0006	0.0209	0.0204	0.0222	0.0011	0	0	0	0.0002	9.931e-06	0.0014	5.89e-05	0.0059	0.0059	0.0060	0.0058	0.0209	0.0056	0.0055	0.0197	0.0193	0.0209	0	0.0012	0	0	0	0	7.353e-05	0.0038	0	0.4	0.10482	T	0.388	0.15842	T	0.018	0.17786	B	0.01	0.14941	B	0.000000	0.84330	D	0.000000	0.999958	0.58761	D	1.78	0.46185	L	1.02	0.40749	T	-1.01	0.26639	N	0.321	0.36148	-1.0805	0.07252	T	0.060	0.24981	T	10	0.0076283813	0.00173	T	.	.	.	0.104	0.29647	0.085	0.00830	0.328504224676	0.32467	0.4004309865571844	0.39958	0.561244684878	0.52632	0.512473583221	0.40568	T	0.126916	0.45360	T	-0.488585	0.00661	T	-0.458338	0.26781	T	0.018079310611391	0.00531	T	0.856914	0.54589	D	0.24039479	0.46943	0.1667706	0.38511	0.24039479	0.46943	0.1667706	0.38510	-4.819	0.34812	T	.	.	0.219	0.44923	B	.;.	.;.	3.536134	0.49643	22.8	0.97679005300964683	0.35306	0.95789	0.66160	D	AEFBI	0.685585	0.64754	D	0.102548992772463	0.46580	2.896316	0.291124857840771	0.55020	3.665592	0.883118751413571	0.25667	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.96	5.96	0.96695	4.616000	0.60900	5.935000	0.51384	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1417:0.8583:0.0:0.0	15.010	0.71204	569	0.70546	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	410.98	33	chr11	18506904	.	C	T	410.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.242e+00;DP=702;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.54;ReadPosRankSum=0.240;SOR=0.610	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,960	20	0	1	0
chr11	18532411	18532411	A	G	exonic	UEVLD	.	nonsynonymous SNV	UEVLD:NM_001261384:exon10:c.T935C:p.I312T	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.032	B	0.041	B	0.124	U	1.000	D	1.72	L	-0.29	T	-0.796	T	0.144	T	0.407	2.082	12.92	5.31	2.014	2.967	13.492	0.272	.	0.0063	0.00379393	0.0016	0.0179	0.0007	0	0	0	0.0011	0	0.0014748	228	154602	rs147462573	0.0005	0.0005	0.0006	0.0004	0.0182	0.0005	0.0005	0.0170	0.0166	0.0182	0.0008	0	0	0	0.0002	5.397e-06	0.0011	5.8e-05	0.0049	0.0049	0.0051	0.0047	0.0173	0.0046	0.0045	0.0163	0.0159	0.0173	0	0.0009	0	0	0	0	7.352e-05	0.0028	0	0.055	0.40319	T	0.029	0.54934	D	0.013	0.16609	B	0.026	0.20792	B	0.124139	0.18892	U	0.501364	0.628384	0.81001	D	1.78	0.46185	L	-0.29	0.67712	T	-2.71	0.57920	D	0.162	0.26717	-0.7965	0.55350	T	0.144	0.46732	T	10	0.0051658154	0.00112	T	.	.	.	0.272	0.58758	.	.	0.776247971521	0.77418	0.6944236922605657	0.69383	0.227251636705	0.25277	0.568108201027	0.48410	T	0.240029	0.60827	T	-0.341635	0.05275	T	-0.249232	0.49893	T	0.0266261699546726	0.01491	T	0.829717	0.49530	T	0.43054482	0.62787	0.23940152	0.49287	0.43054482	0.62788	0.23940152	0.49286	-8.765	0.66172	D	.	.	0.191	0.40921	B	.;.	.;.	2.692941	0.35159	19.82	0.98128158862856329	0.38498	0.88302	0.48169	D	AEFGBI	0.240387	0.36218	N	-0.0672672415156557	0.38835	2.280673	0.0716060201675047	0.43128	2.62102	0.999992724038271	0.74766	0.67177	0.52595	0	0.633656	0.55848	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	5.31	5.31	0.75063	3.358000	0.52004	7.908000	0.73883	0.756000	0.94297	0.997000	0.40164	1.000000	0.68203	0.914000	0.44937	1.0:0.0:0.0:0.0	13.492	0.60855	569	0.70546	Lactate/malate dehydrogenase, C-terminal;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	910.98	40	chr11	18532411	.	A	G	910.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.570;DP=773;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.31;ReadPosRankSum=-5.680e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1251	20	0	1	0
chr11	18706106	18706108	CTT	-	exonic	IGSF22	.	nonframeshift deletion	IGSF22:NM_173588:exon22:c.3619_3621del:p.K1207del,	.	.	423	1090	8	1	0	10	0.00456621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	.	0.0004	0.0005	0	0	0	0.0005	0	0.0004	6.47e-05	10	154602	rs747048024	0.0003	0.0003	0.0003	0.0003	0.0033	0.0003	0.0003	0.0022	0.0018	9.495e-05	0.0004	0.0002	0.0001	4.483e-05	0.0033	0.0002	0.0003	0.0010	0.0003	0.0003	0.0003	0.0002	0.0008	0.0002	0.0002	0.0003	0.0003	0	0	0.0001	0	0.0002	0	0.0068	0.0004	0.0009	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1803.94	33	chr11	18706105	.	CCTT	C	1803.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.410e-01;DP=789;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.48;ReadPosRankSum=0.243;SOR=0.814	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1151	20	0	1	0
chr11	18721615	18721617	AGG	-	exonic	IGSF22	.	nonframeshift deletion	IGSF22:NM_173588:exon4:c.296_298del:p.S99del,	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.28e-05	0	8.639e-05	0	0	0.0001	0	0	3.84e-05	1	26028	rs765812234	3.762e-05	3.762e-05	2.995e-05	4.538e-05	0.0002	2.959e-05	2.655e-05	9.75e-05	6.95e-05	0.0002	0	0.0002	0	0	0.0002	3.147e-05	8.279e-05	1.159e-05	3.284e-05	3.283e-05	6.421e-05	0	7.232e-05	1.26e-05	7.98e-06	1.918e-05	1.031e-05	7.232e-05	0	6.539e-05	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2221.94	33	chr11	18721614	.	CAGG	C	2221.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.536e+00;DP=823;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.36;ReadPosRankSum=-5.170e-01;SOR=0.660	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1294	20	0	1	0
chr11	18724164	18724164	C	T	exonic	IGSF22	.	nonsynonymous SNV	IGSF22:NM_173588:exon2:c.G73A:p.V25M,	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.297	B	0.015	B	0.371	N	1.000	N	0.345	N	0.66	T	-1.078	T	0.051	T	0.118	2.096	12.96	-3.6	-0.691	-1.672	7.433	0.008	0.00737729565619	7.9e-05	.	9.121e-05	0	0	0	0	0.0001	0	0.0001	7.12e-05	11	154602	rs181361635	4.173e-05	4.173e-05	2.859e-05	5.501e-05	0.0002	3.311e-05	3.001e-05	3.983e-05	2.373e-05	0.0001	0	0.0002	0	0	0.0002	3.418e-05	0.0001	5.799e-05	3.942e-05	3.94e-05	6.422e-05	1.345e-05	9.652e-05	1.715e-05	1.129e-05	3.249e-05	1.915e-05	9.652e-05	0	6.545e-05	0	0	0	0	1.47e-05	0	0	0.075	0.34444	T	0.0	0.92824	D	.	.	.	.	.	.	0.370830	0.13530	N	0.554268	0.999675	0.20721	N	.	.	.	0.66	0.52416	T	-0.31	0.12099	N	0.257	0.29081	-1.0784	0.07661	T	0.051	0.21844	T	10	0.04636213	0.03818	T	0.007377	0.19576	T	0.008	0.00669	.	.	0.18274738541	0.17906	0.06988123832336775	0.06926	0.222977863819	0.24826	0.28389364481	0.08041	T	.	.	.	-0.416756	0.01795	T	-0.631867	0.10273	T	0.0509332461117495	0.05663	T	0.465553	0.13627	T	.	.	.	.	.	.	.	.	-3.784	0.20566	T	.	.	0.203	0.42848	B	.	.	-0.011113	0.04206	1.026	0.95930175862903944	0.28214	0.02200	0.06422	N	AEFDBHI	0.053315	0.09597	N	-1.11478893595298	0.06379	0.2934936	-1.05849042995056	0.08530	0.4198869	0.999682371374983	0.41756	0.608966	0.35542	0	0.586423	0.34054	0	0.769059	0.98459	0	0.530356	0.10902	0	.	.	5.84	-3.6	0.04277	-1.675000	0.02049	-4.348000	0.02204	-0.817000	0.03001	0.002000	0.15269	0.000000	0.08366	0.991000	0.66497	0.0:0.3868:0.1115:0.5016	7.433	0.26311	705	0.57330	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1297.98	33	chr11	18724164	.	C	T	1297.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=800;ExcessHet=0.0000;FS=1.543;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=0.518;SOR=0.868	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1136	20	0	1	0
chr11	19055676	19055676	A	G	exonic	MRGPRX2	.	nonsynonymous SNV	MRGPRX2:NM_054030:exon2:c.T727C:p.W243R	.	.	427	1082	13	0	0	13	0.00597152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.76	P	0.468	P	0.004	N	1.000	N	2.2	M	1.31	T	-1.019	T	0.067	T	0.446	2.209	13.34	-2.53	-0.171	-0.000	5.747	0.115	0.00449831866982	0.0043	0.00139776	0.0033	0.0009	0.0022	0	0.0005	0.0053	0.0011	0.0005	0.003454	534	154602	rs150365137	0.0053	0.0053	0.0053	0.0052	0.0064	0.0052	0.0051	0.0062	0.0062	0.0009	0.0023	0.0051	0	0.0008	0.0035	0.0064	0.0038	0.0006	0.0035	0.0035	0.0037	0.0032	0.0056	0.0032	0.0031	0.0051	0.0049	0.0015	0	0.0032	0.0040	0	0.0008	0.0034	0.0056	0.0047	0.0004	0.016	0.51853	D	0.036	0.52060	D	0.76	0.43524	P	0.468	0.46719	P	0.003929	0.34318	N	0.136197	1	0.08975	N	2.425	0.70256	M	1.31	0.35405	T	-10.13	0.98888	D	0.375	0.41656	-1.0190	0.24041	T	0.067	0.27640	T	10	0.011009783	0.00242	T	0.004498	0.11063	T	0.115	0.32236	0.675	0.81299	0.187945064343	0.18414	0.527254929087022	0.52649	0.325657707358	0.34714	0.257886528969	0.04643	T	0.037274	0.24416	T	-0.452719	0.01088	T	-0.421157	0.30942	T	0.06922596393841	0.08542	T	0.0106989	0.00059	T	0.48203486	0.66023	0.40557894	0.64954	0.48203486	0.66024	0.40557894	0.64954	-7.503	0.57631	D	.	.	0.634	0.70272	P	.	.	2.312745	0.29604	18.18	0.66292496617728691	0.08016	0.03515	0.08696	N	AEFBI	0.036726	0.04940	N	-0.531263243908647	0.21076	1.115807	-0.757353633003327	0.15542	0.8178813	3.03709633353647E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.92	-2.53	0.05959	-0.048000	0.11898	-1.835000	0.04640	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.290000	0.24260	0.4327:0.2378:0.0:0.3295	5.747	0.17392	872	0.31118	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2192.98	33	chr11	19055676	.	A	G	2192.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.385e+00;DP=901;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=1.52;SOR=0.714	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1307	20	0	1	0
chr11	19188304	19188304	A	G	exonic	CSRP3	.	nonsynonymous SNV	CSRP3:NM_003476:exon3:c.T113C:p.M38T,	Cardiomyopathy, hypertrophic, 12, Autosomal dominant	.	4	1516	2	0	0	2	0.000659196	0.0018	0.022	526162	Hypertrophic_cardiomyopathy_12|Dilated_cardiomyopathy_1M	MONDO:MONDO:0012804,MedGen:C2677491,OMIM:612124|MONDO:MONDO:0011840,MedGen:C1843808,OMIM:607482,Orphanet:154	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.57	T	0.007	B	0.019	B	0.000	D	1.000	D	-0.03	N	-2.8	D	-0.319	T	0.467	T	0.813	0.854	8.453	5.55	2.115	9.233	15.360	0.477	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs796360127	2.055e-06	2.052e-06	1.363e-06	2.754e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.572	0.06145	T	0.419	0.14158	T	0.007	0.14184	B	0.019	0.18783	B	0.000000	0.84330	D	0.034030	1	0.81001	D	0.5	0.13406	N	-2.8	0.91076	D	-1.06	0.27669	N	0.809	0.80572	-0.3191	0.74447	T	0.467	0.79454	T	10	0.40543267	0.55860	T	0.015188	0.35777	T	0.477	0.76881	0.395	0.42099	0.838818041617	0.83727	0.3524922391269627	0.35163	0.102195823215	0.11571	0.879605948925	0.93908	D	0.408644	0.76391	T	0.240179	0.77678	D	0.12271	0.78413	D	0.210642459614633	0.20987	T	0.728627	0.34984	T	0.34883872	0.56976	0.37667954	0.62785	0.34883872	0.56977	0.37667954	0.62785	-4.03	0.24251	T	.	.	0.509	0.64975	A	.;.;.;.	.;.;.;.	3.653389	0.51862	23.2	0.85325616158969364	0.15823	0.98129	0.79847	D	AEFBI	0.971443	0.99350	D	-0.113676626789823	0.36796	2.131844	0.142255271123688	0.46735	2.91454	0.996084843792218	0.34514	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.55	5.55	0.83298	9.220000	0.94329	11.154000	0.87438	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	15.360	0.74179	773	0.48803	Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;.;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	795.98	34	chr11	19188304	.	A	G	795.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.730e-01;DP=768;ExcessHet=0.0000;FS=3.351;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.90;ReadPosRankSum=0.748;SOR=0.373	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1202	20	0	1	0
chr11	19933298	19933298	G	A	exonic	NAV2	.	nonsynonymous SNV	NAV2:NM_145117:exon7:c.G1054A:p.G352S	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	B	0.001	B	0.006	N	1.000	N	-0.6	N	1.97	T	-0.974	T	0.021	T	0.14	-1.046	0.199	1.6	0.042	1.360	8.598	0.014	0.00636725984743	0.0008	0.000199681	0.0006	9.647e-05	0.0004	0	0	0.0010	0.0011	6.483e-05	0.0005369	83	154602	rs61751935	0.0003	0.0004	0.0003	0.0004	0.0021	0.0003	0.0003	0.0012	0.0009	8.966e-05	0.0003	0.0092	2.519e-05	0	0.0021	0.0002	0.0010	4.642e-05	0.0005	0.0005	0.0004	0.0005	0.0012	0.0004	0.0004	0.0008	0.0006	4.814e-05	0	0.0012	0.0104	0	0	0.0034	0.0002	0.0019	0	1.0	0.03028	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.005689	0.32589	N	0.266923	1	0.08975	N	-0.77	0.01674	N	1.86	0.24285	T	0.62	0.02442	N	0.078	0.05287	-0.9738	0.36387	T	0.021	0.08963	T	9	0.003708452	0.00068	T	0.006367	0.16754	T	0.014	0.01968	.	.	0.0675242888579	0.06100	0.18773614742035613	0.18691	0.153836466492	0.17363	0.297144085169	0.09977	T	0.002176	0.23072	T	-0.516582	0.00460	T	-0.665552	0.07896	T	0.0031254572798086	0.00033	T	0.868313	0.57669	D	0.018966805	0.00421	0.033411786	0.02231	0.018966805	0.00421	0.033411786	0.02231	-1.606	0.02099	T	.	.	0.076	0.06896	B	.;.;.;.;.;.	.;.;.;.;.;.	0.125784	0.05223	1.731	0.61013024566939189	0.06604	0.43020	0.27006	N	AEFDBI	0.126706	0.24377	N	-1.18335365076087	0.05251	0.238959	-1.06325659623643	0.08433	0.4146112	0.998960811274131	0.38084	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.56	1.6	0.22686	1.378000	0.33935	0.613000	0.20051	-0.127000	0.13314	0.869000	0.30776	0.040000	0.21562	0.063000	0.16184	0.546:0.0:0.454:0.0	8.598	0.32889	896	0.25515	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1903.98	34	chr11	19933298	.	G	A	1903.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.00;DP=899;ExcessHet=0.0000;FS=0.555;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.70;ReadPosRankSum=0.050;SOR=0.746	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1086	20	0	1	0
chr11	20092320	20092320	A	G	exonic	NAV2	.	nonsynonymous SNV	NAV2:NM_001111019:exon18:c.A2959G:p.M987V	.	.	419	1091	11	1	0	13	0.00592255	.	.	3192262	NAV2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0	B	0.001	B	0.712	N	1.000	N	1.01	L	3.39	T	-1.069	T	0.021	T	0.08	0.785	8.142	-12.3	-2.258	-0.282	8.329	0.055	.	0.0005	0.00259585	0.0021	0.0003	0.0018	0	0	0.0006	0.0011	0.0118	0.0018823	291	154602	rs140693573	0.0011	0.0011	0.0008	0.0014	0.0114	0.0011	0.0010	0.0109	0.0106	0.0002	0.0013	0.0020	0	0	0.0062	0.0003	0.0015	0.0114	0.0007	0.0007	0.0007	0.0008	0.0104	0.0006	0.0006	0.0081	0.0073	0.0001	0	0.0009	0.0009	0.0002	9.418e-05	0.0034	0.0005	0.0019	0.0104	0.292	0.18434	T	0.277	0.22561	T	0.0	0.02946	B	0.0	0.04355	B	0.711572	0.10009	N	0.878099	0.999999	0.08975	N	0.845	0.21182	L	1.77	0.25841	T	-0.63	0.24026	N	0.219	0.25130	-1.0693	0.09567	T	0.021	0.08732	T	9	0.0035722852	0.00065	T	.	.	.	0.055	0.15663	.	.	0.23524818089	0.23142	0.18010943180078337	0.17929	0.41494507042	0.42158	0.299527615309	0.10331	T	0.011155	0.36026	T	-0.671016	0.00054	T	-0.726257	0.04500	T	0.0108014514994385	0.00153	T	0.824517	0.48627	T	0.042037062	0.06301	0.06588853	0.13417	0.042037062	0.06301	0.06588853	0.13417	-4.548	0.31512	T	.	.	0.053	0.01491	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.009564	0.04347	1.111	0.59728580425167499	0.06293	0.07059	0.13085	N	AEFBI	0.072710	0.14519	N	-1.43625411616667	0.02327	0.1026254	-1.52721831279669	0.02137	0.09782311	0.999999999994081	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.17	-12.3	0.00001	-0.274000	0.08569	-1.440000	0.05434	-0.083000	0.16234	0.000000	0.06391	0.000000	0.08366	0.990000	0.65344	0.2238:0.5122:0.0534:0.2106	8.329	0.31336	875	0.30485	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	647.98	34	chr11	20092320	.	A	G	647.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.115;DP=754;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.29;ReadPosRankSum=-2.000e+00;SOR=0.760	GT:AD:DP:GQ:PL	0/1:34,29:63:99:662,0,812	20	0	1	0
chr11	20156428	20156428	G	T	exonic	DBX1	.	nonsynonymous SNV	DBX1:NM_001029865:exon4:c.C818A:p.P273H,	.	.	411	1109	2	0	0	2	0.000900901	.	.	2203609	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.051	B	0.063	B	0.000	N	1.000	N	0.69	N	0.12	T	-0.198	T	0.608	D	0.085	2.604	14.67	4.41	1.219	5.626	14.935	0.246	0.195057641391	.	.	2.266e-05	0	0	0	0	4.232e-05	0	0	1.29e-05	2	154602	rs200861778	3.3e-05	3.352e-05	3.691e-05	2.905e-05	0.0021	2.556e-05	2.26e-05	0.0012	0.0009	0	0	0	0	1.914e-05	0.0021	2.887e-05	4.993e-05	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.009	0.57480	D	0.005	0.72224	D	.	.	.	.	.	.	0.000358	0.45440	N	0.196807	0.999755	0.20482	N	1.1	0.28011	L	-3.0	0.92158	D	-1.55	0.37566	N	0.184	0.19995	-0.1984	0.77712	T	0.608	0.86106	D	10	0.23827279	0.40944	T	0.195058	0.86398	D	0.246	0.55340	.	.	0.903187140748	0.90222	0.1710529522990921	0.17025	.	.	0.464155584574	0.33879	T	0.091775	0.38867	T	-0.139937	0.29902	T	-0.294378	0.45316	T	0.375911235809326	0.28025	T	0.630337	0.24523	T	0.12759034	0.29852	0.22584955	0.47544	0.12759034	0.29852	0.22584955	0.47543	-4.958	0.36381	T	.	.	0.089	0.11989	B	.	.	1.895978	0.24081	16.26	0.99360643165538576	0.60987	0.96575	0.69827	D	AEFDBHI	0.671883	0.63848	D	-0.374206032374212	0.26391	1.439992	-0.30668554077688	0.27883	1.550377	0.999999999066266	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	5.33	4.41	0.52588	5.739000	0.68261	4.234000	0.42669	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.025000	0.12405	0.0:0.0:0.8556:0.1444	14.935	0.70592	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1019.98	34	chr11	20156428	.	G	T	1019.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.964e+00;DP=772;ExcessHet=0.0000;FS=1.699;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=-2.660e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1094	20	0	1	0
chr11	20654770	20654770	C	T	exonic	SLC6A5	.	nonsynonymous SNV	SLC6A5:NM_001318369:exon15:c.C1594T:p.R532C	Hyperekplexia 3, Autosomal recessive, Autosomal dominant	.	0	1518	4	0	0	4	0.00131579	.	.	565587	not_provided|Hyperekplexia_3	MedGen:C3661900|MONDO:MONDO:0013827,MedGen:C3553288,OMIM:614618,Orphanet:3197	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	1.04	L	-0.98	T	-0.030	T	0.497	T	0.935	4.641	25.5	6.04	2.873	5.645	20.595	0.668	0.144065731983	0.0002	.	6.589e-05	0	8.637e-05	0.0001	0	7.492e-05	0	6.056e-05	5.17e-05	8	154602	rs141654146	6.772e-05	6.84e-05	6.67e-05	6.876e-05	0.0002	5.67e-05	5.261e-05	5.597e-05	5.11e-05	5.974e-05	6.708e-05	0.0001	5.038e-05	1.872e-05	0.0002	6.835e-05	0.0002	1.159e-05	9.203e-05	9.194e-05	0.0001	8.072e-05	0.0003	5.53e-05	4.366e-05	0.0001	8.292e-05	0	0	0.0003	0	0	0	0	0.0001	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.63	0.76995	M	-0.98	0.75789	T	-6.37	0.91058	D	0.829	0.82458	-0.0304	0.81622	T	0.497	0.80970	T	10	0.8916859	0.88512	D	0.144066	0.82634	D	0.668	0.87674	.	.	0.940235433313	0.93961	0.9221167165127621	0.92188	0.897781079154	0.70522	0.867640852928	0.92230	D	0.55024	0.84758	D	0.261804	0.79696	D	0.318583	0.89030	D	0.597534714376087	0.36303	D	0.990629	0.97089	D	0.6635367	0.76088	0.7270059	0.83873	0.6635367	0.76089	0.7270059	0.83874	-13.36	0.90792	D	.	.	0.972	0.89681	P	.	.	5.169816	0.86649	29.0	0.99945074009890156	0.99886	0.96269	0.68318	D	AEFGBI	0.868646	0.78886	D	0.705735089509847	0.80010	7.20014	0.746993452959186	0.85931	8.730487	0.988033399756642	0.31402	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	6.04	6.04	0.98025	5.720000	0.68118	7.728000	0.67649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:1.0:0.0:0.0	20.595	0.99442	848	0.35897	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1493.98	34	chr11	20654770	.	C	T	1493.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=941;ExcessHet=0.0000;FS=1.384;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.67;ReadPosRankSum=-9.640e-01;SOR=0.538	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1238	20	0	1	0
chr11	20947424	20947424	G	A	exonic	NELL1	.	nonsynonymous SNV	NELL1:NM_001288714:exon10:c.G989A:p.R330H	.	.	417	1067	37	1	0	39	0.0179475	.	.	724358	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.18	T	0.916	P	0.489	P	0.001	N	0.903	N	0.345	N	-0.14	T	-0.964	T	0.106	T	0.223	3.308	17.12	4.31	1.630	1.745	10.761	0.149	.	0.0036	0.00259585	0.0041	0.0010	0.0010	0	0.0006	0.0040	0.0055	0.0118	0.0038939	602	154602	rs141323787	0.0038	0.0039	0.0036	0.0041	0.0137	0.0038	0.0037	0.0113	0.0108	0.0008	0.0016	0.0097	0.0001	0.0005	0.0137	0.0035	0.0041	0.0116	0.0031	0.0032	0.0031	0.0032	0.0108	0.0029	0.0028	0.0085	0.0076	0.0009	0	0.0058	0.0121	0.0002	0.0006	0.0136	0.0035	0.0043	0.0108	0.005	0.63226	D	0.042	0.63918	D	0.265	0.50672	B	0.063	0.47308	B	0.001247	0.39669	N	0.303149	0.93939	0.27659	N	0.345	0.11182	N	-0.14	0.65006	T	-2.12	0.50175	N	0.358	0.39962	-0.9636	0.38488	T	0.106	0.38783	T	10	0.010558307	0.00234	T	.	.	.	0.149	0.39377	.	.	0.728451066549	0.72604	0.40356519137482655	0.40272	0.151477196023	0.17094	0.317092180252	0.12980	T	0.032393	0.49628	T	-0.446886	0.01178	T	-0.404309	0.32882	T	0.0123494699315133	0.00201	T	0.964804	0.88767	D	0.122169904	0.28713	0.11407641	0.27535	0.122169904	0.28713	0.11407641	0.27534	-5.789	0.44478	T	.	.	0.069	0.03301	B	.;.;.;.	.;.;.;.	3.437747	0.47809	22.5	0.99778595692300542	0.86606	0.79249	0.39234	D	AEFI	0.346655	0.44140	N	-0.00128806613441537	0.41796	2.506534	0.142131235549213	0.46726	2.913993	1.29534354133135E-4	0.05386	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.17	4.31	0.50718	1.780000	0.38264	2.856000	0.35172	0.676000	0.76740	0.872000	0.30832	0.995000	0.32472	0.998000	0.85391	0.1438:0.0:0.8562:0.0	10.761	0.45465	936	0.14734	VWFC domain;VWFC domain;VWFC domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	924.98	33	chr11	20947424	.	G	A	924.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.76;DP=779;ExcessHet=0.0000;FS=4.829;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.01;ReadPosRankSum=0.306;SOR=1.323	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1328	20	0	1	0
chr11	21573279	21573279	G	A	exonic	NELL1	.	nonsynonymous SNV	NELL1:NM_001288714:exon18:c.G2081A:p.S694N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.842	P	0.287	B	0.001	N	0.783	D	1.59	L	-0.12	T	-0.536	T	0.194	T	0.158	3.726	18.92	5.73	2.707	4.900	13.141	0.106	0.0167546437355	.	0.000599042	0.0003	0	0	0	0	0	0	0.0024	0.0002781	43	154602	rs577039144	0.0002	0.0002	8.72e-05	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	0	0	0	2.524e-05	0	0	7.199e-06	0.0003	0.0023	5.924e-05	5.908e-05	5.149e-05	6.734e-05	0.0019	3.082e-05	2.214e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	0.083	0.33091	T	0.217	0.45744	T	0.617	0.39849	P	0.242	0.40572	B	0.001019	0.40652	N	0.252441	0.685	0.34296	D	1.935	0.51832	L	-0.12	0.64630	T	-0.56	0.17003	N	0.467	0.52386	-0.5362	0.67307	T	0.194	0.54696	T	10	0.01931119	0.00430	T	0.016755	0.38167	T	0.106	0.30130	0.444	0.50139	0.770635318859	0.76853	0.41198320440569547	0.41114	0.116037333508	0.13092	0.632865428925	0.57552	T	0.01685	0.36391	T	-0.44195	0.01259	T	-0.412223	0.31968	T	0.0787373907359533	0.09824	T	0.823718	0.54891	T	0.070385866	0.15499	0.10725788	0.25818	0.070385866	0.15499	0.10725788	0.25818	-3.14	0.11761	T	.	.	0.075	0.09385	B	.;.;.;.	.;.;.;.	3.974038	0.58372	24.0	0.99565202905013572	0.72014	0.93359	0.58006	D	AEFI	0.616816	0.60324	D	0.317358992718798	0.57040	3.869902	0.440951175910315	0.64137	4.66219	0.569944130576997	0.21484	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	5.73	5.73	0.89730	4.150000	0.57871	4.487000	0.43556	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0729:0.0:0.9271:0.0	13.141	0.58855	883	0.28872	VWFC domain;VWFC domain;VWFC domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2226.98	34	chr11	21573279	.	G	A	2226.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.598;DP=885;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=1.99;SOR=0.692	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1243	20	0	1	0
chr11	22272895	22272895	C	G	exonic	ANO5	.	nonsynonymous SNV	ANO5:NM_001142649:exon19:c.C2138G:p.T713S	Gnathodiaphyseal dysplasia, Autosomal dominant;Miyoshi muscular dystrophy 3, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2L, Autosomal recessive	YES	0	1512	10	0	0	10	0.00329598	.	.	192166	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2L|Gnathodiaphyseal_dysplasia|ANO5-Related_Muscle_Diseases|not_provided	MONDO:MONDO:0012652,MedGen:C1969785,OMIM:611307,Orphanet:206549|MONDO:MONDO:0008151,MedGen:C1833736,OMIM:166260,Orphanet:53697|MedGen:CN180644|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.17	T	0.03	B	0.258	B	0.000	D	1.000	D	2.375	M	-0.16	T	-0.535	T	0.350	T	0.944	4.314	22.6	5.57	2.776	7.767	19.907	0.498	0.0222549554459	0.0005	0.000199681	0.0007	0	0.0006	0	0	0.0010	0	0.0012	0.0006921	107	154602	rs200631556	0.0008	0.0008	0.0007	0.0008	0.0057	0.0007	0.0007	0.0042	0.0037	0.0001	0.0010	0.0013	0	0	0.0057	0.0008	0.0009	0.0013	0.0009	0.0009	0.0010	0.0008	0.0014	0.0008	0.0007	0.0011	0.0010	0.0002	0	0.0014	0.0020	0	0	0	0.0013	0.0033	0.0006	0.067	0.35918	T	0.05	0.48080	T	0.03	0.20002	B	0.258	0.39350	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.425	0.70256	M	-0.16	0.65378	T	-3.33	0.66206	D	0.854	0.85027	-0.5355	0.67334	T	0.350	0.71399	T	10	0.19104081	0.34773	T	0.022255	0.45130	T	0.498	0.78226	0.638	0.77470	0.64802381883	0.64510	0.6109420288198557	0.61026	0.124345642986	0.14002	0.704861760139	0.67848	T	0.308895	0.68096	T	0.0216646	0.54607	T	0.222965	0.84324	D	0.0878402663427369	0.10959	T	0.89751	0.64163	D	0.44743386	0.63879	0.36949426	0.62218	0.44743386	0.63879	0.36949426	0.62218	-8.152	0.62101	D	0.34720984758349843	0.44465	0.2	0.42361	B	.	.	3.741146	0.53572	23.4	0.99474427690680556	0.66525	0.98626	0.84855	D	AEFBI	0.943100	0.94852	D	0.357017464991941	0.59112	4.087909	0.488150366090404	0.67205	5.052767	0.999999999280968	0.74766	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.57	5.57	0.84021	7.896000	0.85926	7.701000	0.66289	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.907	0.97012	758	0.50837	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	834.98	33	chr11	22272895	.	C	G	834.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=7.000e-03;DP=757;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-5.710e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr11	22274729	22274729	G	A	exonic	ANO5	.	nonsynonymous SNV	ANO5:NM_001142649:exon20:c.G2393A:p.R798Q	Gnathodiaphyseal dysplasia, Autosomal dominant;Miyoshi muscular dystrophy 3, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2L, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	461086	Inborn_genetic_diseases|Gnathodiaphyseal_dysplasia|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2L	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008151,MedGen:C1833736,OMIM:166260,Orphanet:53697|MONDO:MONDO:0012652,MedGen:C1969785,OMIM:611307,Orphanet:206549	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.59	T	0.938	P	0.131	B	0.154	N	1.000	N	0.55	N	-0.5	T	-0.928	T	0.124	T	0.139	-0.774	0.748	0.182	0.135	0.033	1.552	0.131	0.0227656898248	.	.	8.264e-06	9.649e-05	0	0	0	0	0	0	1.94e-05	3	154602	rs747460085	4.106e-05	4.104e-05	3.268e-05	4.952e-05	0.0002	3.246e-05	2.921e-05	3.978e-05	3.575e-05	0	0	0	2.521e-05	0	0.0002	5.038e-05	3.313e-05	0	2.632e-05	2.627e-05	2.573e-05	2.694e-05	5.891e-05	8.15e-06	5.15e-06	1.975e-05	1.126e-05	0	0	0	0	0	0	0	5.891e-05	0	0	0.535	0.06913	T	0.59	0.08217	T	0.938	0.52538	P	0.131	0.32951	B	0.153610	0.02982	N	1.596500	1	0.08975	N	0.805	0.20218	L	-0.5	0.70480	T	-0.64	0.18670	N	0.267	0.30233	-0.9279	0.44444	T	0.124	0.42862	T	10	0.101085186	0.18447	T	0.022766	0.45688	T	0.131	0.35738	.	.	0.45882554386	0.45509	0.5963549917094241	0.59565	0.110288334965	0.12446	0.255113482475	0.04326	T	0.032613	0.22561	T	-0.303462	0.08337	T	-0.49215	0.23166	T	0.0395653803803227	0.03612	T	0.551245	0.19007	T	0.020014394	0.00547	0.018357502	0.00053	0.020014394	0.00546	0.018357502	0.00053	-2.893	0.09074	T	0.13896877285103246	0.15423	0.088	0.11893	B	.	.	1.643790	0.20977	15.00	0.67268871331594038	0.08304	0.06689	0.12709	N	AEFI	0.139022	0.26049	N	-1.08884514929533	0.06848	0.3164036	-1.15788344281133	0.06627	0.3196441	9.34487207682068E-5	0.04910	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.24	0.182	0.14361	0.200000	0.17055	1.784000	0.28742	-0.759000	0.03520	0.012000	0.18695	0.043000	0.21642	0.069000	0.16583	0.3537:0.1322:0.379:0.1351	1.552	0.02421	758	0.50837	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1118.98	44	chr11	22274729	.	G	A	1118.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.301;DP=937;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.56;ReadPosRankSum=-1.860e-01;SOR=0.748	GT:AD:DP:GQ:PL	0/1:69,48:117:99:1133,0,1834	20	0	1	0
chr11	22377713	22377713	C	G	exonic	SLC17A6	.	nonsynonymous SNV	SLC17A6:NM_020346:exon12:c.C1722G:p.S574R,	.	.	436	1078	8	0	0	8	0.00369686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.0	B	0.0	B	0.133	N	0.985	N	0.55	N	0.19	T	-1.034	T	0.103	T	0.195	-0.528	1.596	1.96	0.116	0.594	9.973	0.055	0.00791264154761	0.0021	0.000798722	0.0020	0.0001	0.0008	0	0.0003	0.0035	0	0.0001	0.0018564	287	154602	rs143861002	0.0018	0.0018	0.0018	0.0017	0.0025	0.0017	0.0017	0.0021	0.0020	0.0002	0.0007	0.0011	0	0.0003	0.0025	0.0021	0.0019	0.0001	0.0012	0.0012	0.0014	0.0009	0.0021	0.0010	0.0010	0.0018	0.0017	0.0004	0	0.0006	0.0006	0	9.43e-05	0	0.0021	0.0014	0	0.668	0.04588	T	0.419	0.14158	T	0.0	0.02946	B	0.0	0.01387	B	0.132684	0.18578	N	0.563404	0.98478	0.24770	N	0.55	0.14455	N	0.19	0.60236	T	-1.3	0.32590	N	0.142	0.14196	-1.0342	0.19109	T	0.103	0.37994	T	10	0.0070774257	0.00161	T	0.007913	0.20981	T	0.055	0.15663	0.248	0.18447	0.043077524339	0.03247	0.4667617079200497	0.46595	0.383390035695	0.39662	0.245070129633	0.03266	T	0.256392	0.62730	T	-0.493926	0.00618	T	-0.485631	0.23851	T	0.0079341436251645	0.00093	T	0.789321	0.42944	T	0.050903324	0.09268	0.06361085	0.12626	0.050903324	0.09267	0.06361085	0.12626	-4.237	0.27284	T	.	.	0.144	0.31808	B	.	.	1.167339	0.15569	11.95	0.75135494295925787	0.10959	0.90111	0.51035	D	AEFI	0.271038	0.38698	N	-0.470736285675034	0.23043	1.234672	-0.298168338570699	0.28159	1.567839	2.09188726613314E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.85	1.96	0.25203	0.824000	0.27034	1.797000	0.28849	0.599000	0.40250	1.000000	0.71638	0.967000	0.29559	0.993000	0.69303	0.0:0.7027:0.0:0.2973	9.973	0.40939	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	993.98	34	chr11	22377713	.	C	G	993.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.430;DP=805;ExcessHet=0.0000;FS=0.846;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=-8.520e-01;SOR=0.804	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1176	20	0	1	0
chr11	22625254	22625254	G	A	exonic	FANCF	.	nonsynonymous SNV	FANCF:NM_022725:exon1:c.C557T:p.A186V,	Fanconi anemia, complementation group F	.	0	1443	79	0	0	79	0.0266442	.	.	138088	Ovarian_cancer|Malignant_tumor_of_breast|not_provided|not_specified|Fanconi_anemia|Fanconi_anemia_complementation_group_F	MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500|MONDO:MONDO:0007254,MedGen:C0006142|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0011325,MedGen:C3469526,OMIM:603467,Orphanet:84	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.6	T	0.04	B	0.062	B	0.034	N	1.000	N	0.345	N	1.5	T	-1.026	T	0.037	T	0.084	1.573	11.21	1.82	0.656	0.410	9.497	0.041	.	0.0057	0.00519169	0.0091	0.0011	0.0056	0.0002	0.0051	0.0103	0.0189	0.0175	0.0087256	1349	154602	rs113910234	0.0088	0.0088	0.0083	0.0092	0.0201	0.0086	0.0086	0.0171	0.0160	0.0010	0.0049	0.0038	2.519e-05	0.0056	0.0201	0.0091	0.0086	0.0167	0.0062	0.0062	0.0066	0.0059	0.0153	0.0059	0.0058	0.0125	0.0115	0.0015	0	0.0048	0.0055	0.0002	0.0039	0.0238	0.0097	0.0071	0.0153	0.446	0.09101	T	0.188	0.28669	T	0.04	0.21238	B	0.062	0.26930	B	0.033578	0.01773	N	2.075460	1	0.08975	N	0.345	0.11182	N	1.5	0.31205	T	-1.19	0.30346	N	0.078	0.05287	-1.0265	0.21593	T	0.037	0.15856	T	10	0.0028169155	0.00045	T	.	.	.	0.041	0.10877	.	.	0.162503812791	0.15892	0.12238860906299871	0.12165	0.248819774216	0.27451	0.349070757627	0.17785	T	0.071258	0.34164	T	-0.650317	0.00072	T	-0.693286	0.06201	T	0.00244706665336393	0.00025	T	0.450155	0.12692	T	0.047262046	0.08048	0.051013313	0.08125	0.042552084	0.06473	0.051013313	0.08124	-4.121	0.25599	T	0.22404178093100105	0.30252	0.098	0.16231	B	.	.	0.895746	0.12696	9.216	0.94939303724773183	0.25832	0.43237	0.27054	N	ALL	0.084762	0.17181	N	-1.31958861353704	0.03451	0.1541903	-1.28871962557727	0.04582	0.2164664	0.999999999986908	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.372554	0.06265	0	.	.	4.87	1.82	0.24209	0.252000	0.18046	0.114000	0.14823	-0.926000	0.02173	0.000000	0.06391	0.002000	0.18203	0.002000	0.04165	0.0:0.503:0.4183:0.0787	9.497	0.38162	899	0.25060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2661.98	34	chr11	22625254	.	G	A	2661.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.853;DP=913;ExcessHet=0.0000;FS=4.836;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.86;ReadPosRankSum=-1.167e+00;SOR=1.016	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,112,1386	20	0	1	0
chr11	22829341	22829341	G	T	exonic	SVIP	.	nonsynonymous SNV	SVIP:NM_001320340:exon1:c.C14A:p.A5E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1459546382	0	6.32e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.315e-05	1.313e-05	1.285e-05	1.346e-05	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1133.98	40	chr11	22829341	.	G	T	1133.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.266;DP=939;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.22;ReadPosRankSum=0.964;SOR=0.705	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr11	26721693	26721693	C	T	exonic	SLC5A12	.	nonsynonymous SNV	SLC5A12:NM_178498:exon1:c.G22A:p.V8I,	.	.	425	1060	36	1	0	38	0.0176089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.027	B	0.015	B	0.751	N	1.000	N	0.575	N	-1.56	D	-0.958	T	0.086	T	0.088	0.556	7.009	2.53	0.332	0.209	6.128	0.132	.	0.0025	0.0203674	0.0088	0.0031	0.0022	0.0611	0.0032	0.0044	0.0079	0.0092	0.0085769	1326	154602	rs113908376	0.0055	0.0055	0.0053	0.0057	0.0777	0.0054	0.0053	0.0754	0.0745	0.0045	0.0026	0.0129	0.0777	0.0034	0.0415	0.0023	0.0088	0.0097	0.0059	0.0059	0.0059	0.0059	0.0662	0.0056	0.0055	0.0604	0.0582	0.0035	0	0.0031	0.0130	0.0662	0.0024	0.0442	0.0031	0.0090	0.0112	0.27	0.17069	T	0.246	0.23984	T	0.027	0.19556	B	0.015	0.17295	B	0.750577	0.09703	N	0.877530	1	0.08975	N	0.885	0.21608	L	-1.95	0.85003	D	-0.65	0.18877	N	0.04	0.03613	-0.9578	0.39589	T	0.086	0.33522	T	10	0.0024740994	0.00037	T	.	.	.	0.132	0.35948	.	.	0.163833314356	0.15978	0.06215875893013715	0.06155	0.154448843171	0.17448	0.238343030214	0.02643	T	0.006942	0.06364	T	-0.539797	0.00336	T	-0.4725	0.25246	T	0.00137920736496509	0.00014	T	0.448855	0.12628	T	0.033720206	0.03648	0.04206866	0.04925	0.033720206	0.03647	0.04206866	0.04925	-4.289	0.28023	T	.	.	0.072	0.07083	B	.;.	.;.	0.922954	0.12977	9.485	0.84574392258224262	0.15372	0.14310	0.18335	N	AEFI	0.172967	0.30002	N	-1.43860197420556	0.02308	0.1017523	-1.35497813986167	0.03747	0.1754482	0.25811658146829	0.18758	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.59	2.53	0.29594	0.132000	0.15716	0.811000	0.21752	-1.974000	0.00467	0.000000	0.06391	0.000000	0.08366	0.820000	0.38637	0.1026:0.6453:0.1004:0.1517	6.128	0.19406	759	0.50631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.09524	5584.92	36	chr11	26721693	.	C	T	5584.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.346;DP=1020;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=13.30;ReadPosRankSum=0.186;SOR=0.699	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1268	17	0	4	0
chr11	30495338	30495338	G	A	exonic	MPPED2	.	nonsynonymous SNV	MPPED2:NM_001145399:exon4:c.C494T:p.S165L	.	.	438	1082	2	0	0	2	0.000923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.997	D	0.000	D	1.000	D	3.085	M	1.24	T	-0.441	T	0.304	T	0.887	4.915	28.4	5.61	2.650	9.869	19.643	0.485	0.0525054662897	0.0003	0.000798722	0.0006	0.0004	0.0049	0.0003	0	5.994e-05	0.0011	0.0004	0.0005692	88	154602	rs144495334	0.0003	0.0003	0.0003	0.0003	0.0057	0.0003	0.0002	0.0052	0.0049	2.987e-05	0.0057	0	0.0010	1.872e-05	0.0003	6.116e-05	0.0003	0.0002	0.0005	0.0005	0.0005	0.0006	0.0036	0.0004	0.0004	0.0028	0.0026	0.0002	0	0.0036	0	0.0015	0	0	0.0001	0	0.0004	0.001	0.78490	D	0.015	0.62352	D	1.0	0.90584	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.655	0.77738	M	1.24	0.36691	T	-4.53	0.78388	D	0.909	0.91968	-0.4414	0.70683	T	0.304	0.67538	T	10	0.053617626	0.05581	T	0.052505	0.65097	D	0.485	0.77399	.	.	0.263709349026	0.25991	0.8058972692396706	0.80544	1.63655336071	0.89319	0.850828528404	0.89741	D	0.788106	0.94468	D	-0.0563512	0.43475	T	0.148198	0.80071	D	0.0942263037873719	0.11709	T	0.952405	0.81824	D	0.62661314	0.74117	0.5587524	0.74473	0.62661314	0.74118	0.5587524	0.74474	-13.124	0.93130	D	.	.	0.258	0.49255	B	.;.	.;.	6.068400	0.94484	34	0.99920090035580578	0.98721	0.99105	0.91299	D	AEFDBI	0.942453	0.94706	D	0.99601972041454	0.95620	13.79702	0.952734524991619	0.97485	16.21001	0.999999999988394	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.61	5.61	0.85347	10.003000	0.99689	11.816000	0.97088	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.643	0.95759	713	0.56348	.;Calcineurin-like phosphoesterase domain, ApaH type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3160.98	33	chr11	30495338	.	G	A	3160.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.946;DP=931;ExcessHet=0.0000;FS=1.001;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=-4.890e-01;SOR=0.608	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1330	20	0	1	0
chr11	30892949	30892949	T	C	exonic	DCDC1	.	nonsynonymous SNV	DCDC1:NM_020869:exon17:c.A2263G:p.I755V	.	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	.	.	.	.	.	.	1.000	N	1.085	L	.	.	-0.936	T	0.098	T	0.046	-1.264	0.047	-7.77	-1.525	-1.575	19.520	0.045	0.00253645755154	8.4e-05	0.000199681	0.0004	0.0001	0	0	0.0002	2.997e-05	0.0011	0.0024	0.0002975	46	154602	rs368503716	0.0002	0.0002	9.802e-05	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	2.987e-05	0	0	2.519e-05	1.873e-05	0.0002	2.968e-05	0.0001	0.0028	0.0001	0.0001	5.138e-05	0.0002	0.0029	7.084e-05	5.742e-05	0.0018	0.0014	2.405e-05	0	0	0	0	0	0	2.94e-05	0	0.0029	.	.	.	0.681	0.07842	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.71	0.26737	T	.	.	.	0.055	0.06720	-0.9363	0.43195	T	0.098	0.36651	T	6	0.0082604885	0.00187	T	0.002536	0.05065	T	0.045	0.12272	.	.	0.177238962908	0.17366	0.020400231430496775	0.01993	.	.	0.210722506046	0.00842	T	.	.	.	-0.736102	0.00022	T	-0.835374	0.01171	T	0.0204066946908514	0.00740	T	0.383462	0.09368	T	.	.	.	.	.	.	.	.	-2.675	0.07095	T	.	.	0.061	0.01859	B	.;.	.;.	-2.011978	0.00098	0.002	0.18866308137246532	0.00612	0.01067	0.03955	N	AEFI	0.049706	0.08616	N	-1.58458270359947	0.01343	0.05852903	-1.75150031039479	0.00927	0.04150277	0.00684528352886515	0.11323	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.44	-7.77	0.01090	-1.584000	0.02217	-3.392000	0.02822	-2.309000	0.00320	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7145:0.0:0.2855	19.520	0.95173	454	0.79125	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1513.98	33	chr11	30892949	.	T	C	1513.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.120e-01;DP=823;ExcessHet=0.0000;FS=2.381;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.74;ReadPosRankSum=-1.630e-01;SOR=0.475	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1308	20	0	1	0
chr11	30905098	30905098	G	A	exonic	DCDC1	.	nonsynonymous SNV	DCDC1:NM_020869:exon12:c.C1492T:p.R498W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.009	B	0.004	B	0.003	N	0.995	N	2.095	M	.	.	-0.940	T	0.124	T	0.672	2.613	14.70	4.39	2.474	0.679	7.369	0.176	0.0287800271216	7.7e-05	.	6.079e-05	0.0003	0	0	0	1.581e-05	0.0011	0.0001	5.17e-05	8	154602	rs144668195	2.121e-05	2.121e-05	2.451e-05	1.788e-05	5.977e-05	1.52e-05	1.325e-05	1.583e-05	1.151e-05	5.977e-05	0	0	0	0	0	2.069e-05	3.314e-05	4.638e-05	5.253e-05	5.249e-05	5.14e-05	5.372e-05	9.625e-05	2.556e-05	1.829e-05	3.243e-05	1.91e-05	9.625e-05	0	0	0	0	0	0.0034	4.411e-05	0	0	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	0.003156	0.35359	N	0.130642	0.995246	0.23338	N	.	.	.	1.21	0.37230	T	.	.	.	0.272	0.44283	-0.9404	0.42552	T	0.124	0.42715	T	9	0.12122041	0.22975	T	0.02878	0.51400	D	0.176	0.44373	.	.	0.391775403332	0.38787	0.22115270554143396	0.22030	.	.	0.204922646284	0.00614	T	.	.	.	-0.218055	0.18260	T	-0.271562	0.47661	T	0.206846207493344	0.20787	T	0.761924	0.38711	T	.	.	.	.	.	.	.	.	-5.918	0.45588	T	.	.	0.112	0.34470	B	.;.	.;.	2.173981	0.27707	17.55	0.99866593253317149	0.94457	0.24041	0.22269	N	AEFI	0.377375	0.46117	N	-0.222234482283471	0.32222	1.814919	-0.163276533106889	0.32901	1.876455	3.2443970149907E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.31	4.39	0.52211	0.497000	0.22222	1.982000	0.30038	0.676000	0.76740	0.268000	0.25027	0.909000	0.28100	0.036000	0.13842	0.088:0.0:0.7475:0.1645	7.369	0.25963	452	0.79239	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1912.98	34	chr11	30905098	.	G	A	1912.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=848;ExcessHet=0.0000;FS=2.842;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=-7.720e-01;SOR=0.943	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1325	20	0	1	0
chr11	31430384	31430384	C	T	exonic	DNAJC24	.	nonsynonymous SNV	DNAJC24:NM_181706:exon5:c.C433T:p.L145F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.983	D	0.774	P	0.001	D	1.000	D	1.955	M	1.45	T	-1.025	T	0.099	T	0.196	2.294	13.63	2.23	0.637	2.197	2.713	0.159	0.0243026690673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.012	0.63918	D	.	.	.	.	.	.	0.000578	0.43250	D	0.189991	0.745763	0.33872	D	.	.	.	1.45	0.32482	T	-2.07	0.47344	N	0.238	0.26837	-1.0248	0.22148	T	0.099	0.36856	T	10	0.25963157	0.43402	T	0.024303	0.47287	T	0.159	0.41286	.	.	0.483301346737	0.47961	0.628431862284808	0.62776	0.421294858915	0.42638	0.452863872051	0.32335	T	0.338285	0.70757	T	-0.181412	0.23525	T	-0.498362	0.22517	T	0.768617601559289	0.44356	D	0.743326	0.36245	T	0.093211345	0.21886	0.11312494	0.27300	0.093211345	0.21886	0.11312494	0.27300	-5.66	0.43335	T	.	.	0.223	0.45483	B	.	.	3.167548	0.42947	21.6	0.99807894123297425	0.89174	0.76642	0.37605	D	AEFBI	0.221904	0.34647	N	0.0532000653145887	0.44289	2.705728	-0.0315434559698925	0.38298	2.254394	3.01293924114846E-4	0.06454	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.42	2.23	0.27189	2.233000	0.42672	2.902000	0.35456	-0.273000	0.06669	1.000000	0.71638	1.000000	0.68203	0.771000	0.36558	0.3823:0.398:0.122:0.0978	2.713	0.04861	473	0.77910	Zinc finger, DPH-type|Zinc finger, DPH-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	147.53	144	chr11	31430384	.	C	T	147.53	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-4.100e+00;DP=1569;ExcessHet=0.0000;FS=258.487;InbreedingCoeff=-0.0472;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=1.07;ReadPosRankSum=2.31;SOR=10.832	GT:AD:DP:GQ:PL	0/0:81,0:81:82:0,82,2024	19	0	1	1
chr11	31539740	31539740	T	C	exonic	ELP4	.	nonsynonymous SNV	ELP4:NM_001288725:exon3:c.T338C:p.L113S	.	.	431	1063	27	1	0	29	0.0134571	.	.	701730	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.902	P	0.725	P	0.000	N	0.999	D	2.38	M	0.69	T	-0.652	T	0.226	T	0.886	2.981	15.94	4.19	0.961	4.063	10.875	0.327	.	0.0029	0.00399361	0.0050	0.0005	0.0020	0	0.0017	0.0046	0.0033	0.0153	0.0044825	693	154602	rs201333718	0.0047	0.0047	0.0043	0.0051	0.0146	0.0046	0.0046	0.0139	0.0136	0.0007	0.0022	0.0046	0	0.0021	0.0078	0.0044	0.0057	0.0146	0.0035	0.0035	0.0035	0.0036	0.0143	0.0033	0.0032	0.0116	0.0106	0.0006	0	0.0022	0.0072	0	0.0020	0	0.0052	0.0038	0.0143	0.001	0.78490	D	0.002	0.92824	D	0.793	0.49745	P	0.48	0.47081	P	0.000219	0.47681	N	0.141600	0.999374	0.46831	D	2.33	0.66821	M	0.69	0.51714	T	-4.05	0.74504	D	0.717	0.71942	-0.6524	0.62609	T	0.226	0.59083	T	10	0.011266887	0.00247	T	.	.	.	0.327	0.64926	.	.	0.757842185581	0.75564	0.893030983477981	0.89273	0.150935704758	0.17036	0.357488334179	0.19020	T	0.124407	0.44941	T	-0.0941433	0.37391	T	0.104967	0.77237	D	0.0459769926850734	0.04779	T	0.759324	0.38363	T	0.54611576	0.69739	0.5094322	0.71650	0.5717868	0.71160	0.6096003	0.77294	-11.428	0.81953	D	.	.	0.339	0.64320	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	3.879300	0.56368	23.7	0.99659333267524086	0.77820	0.90763	0.52215	D	AEFDBI	0.493549	0.52972	N	0.38074612581872	0.60379	4.226205	0.371876799930466	0.59835	4.165029	0.177405396842463	0.17823	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.32	4.19	0.48645	4.345000	0.59140	3.471000	0.38581	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0754:0.0:0.9246	10.875	0.46112	412	0.82007	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	859.98	38	chr11	31539740	.	T	C	859.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.532e+00;DP=765;ExcessHet=0.0000;FS=3.266;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=0.531;SOR=0.378	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1151	20	0	1	0
chr11	31783430	31783430	G	C	exonic	ELP4	.	nonsynonymous SNV	ELP4:NM_019040:exon10:c.G1181C:p.S394T	.	.	422	1070	30	0	0	30	0.0138249	.	.	693004	not_provided|ELP4-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.2	T	0.939	P	0.67	P	.	.	1.000	D	1.63	L	0.95	T	-0.977	T	0.112	T	0.221	3.858	19.60	4.83	1.570	7.420	14.926	0.117	.	0.0057	0.00259585	0.0057	0.0011	0.0040	0.0005	0.0035	0.0060	0.0089	0.0121	0.0054656	845	154602	rs3026404	0.0064	0.0064	0.0062	0.0067	0.0137	0.0063	0.0063	0.0121	0.0119	0.0011	0.0038	0.0066	0.0006	0.0045	0.0137	0.0064	0.0061	0.0128	0.0048	0.0048	0.0045	0.0052	0.0112	0.0045	0.0044	0.0088	0.0080	0.0014	0.0252	0.0046	0.0055	0.0008	0.0055	0.0136	0.0065	0.0028	0.0112	.	.	.	.	.	.	0.939	0.52645	P	0.67	0.53116	P	.	.	.	.	0.940106	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	-0.9774	0.35593	T	0.112	0.40099	T	9	0.009358019	0.00211	T	.	.	.	0.117	0.32689	.	.	0.49118058892	0.48749	.	.	0.30824296967	0.33134	0.519372045994	0.41538	T	0.020801	0.16311	T	-0.266691	0.12128	T	-0.145471	0.59643	T	0.0189696561866066	0.00606	T	0.854215	0.54045	D	0.17102155	0.37712	0.2017196	0.44165	0.16778867	0.37196	0.2017196	0.44164	-3.624	0.18204	T	.	.	0.207	0.48188	B	.;.	.;.	3.742534	0.53604	23.4	0.99738626252320284	0.83337	0.99504	0.96829	D	AEFDIJ	0.897133	0.83896	D	0.521952656692334	0.68389	5.21055	0.554219415158907	0.71691	5.693676	0.998614749081728	0.37309	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.73	4.83	0.61880	7.465000	0.79922	8.656000	0.77953	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0686:0.0:0.9314:0.0	14.926	0.70528	374	0.84073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1324.98	33	chr11	31783430	.	G	C	1324.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.911;DP=777;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.16;ReadPosRankSum=-1.900e-02;SOR=0.798	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1135	20	0	1	0
chr11	31783490	31783490	T	C	exonic	ELP4	.	nonsynonymous SNV	ELP4:NM_019040:exon10:c.T1241C:p.M414T,	.	.	424	1094	4	0	0	4	0.00182482	.	.	693005	ELP4-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.44	T	0.0	B	0.001	B	.	.	1.000	N	1.1	L	1.04	T	-1.000	T	0.067	T	0.079	0.770	8.068	-4.72	-0.765	0.718	10.270	0.045	0.00463023244741	0.0015	.	0.0008	0.0006	8.643e-05	0	0.0005	0.0012	0.0011	0.0005	0.0008991	139	154602	rs200018893	0.0015	0.0015	0.0016	0.0014	0.0018	0.0014	0.0014	0.0017	0.0017	0.0002	0.0002	0	0	0.0006	0.0012	0.0018	0.0011	0.0006	0.0010	0.0010	0.0011	0.0008	0.0017	0.0008	0.0008	0.0015	0.0014	0.0004	0	0.0003	0	0	0.0005	0	0.0017	0	0	0.597	0.05686	T	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.19072	N	.	.	.	1.09	0.39223	T	0.03	0.06612	N	.	.	-0.9999	0.29945	T	0.067	0.27708	T	9	0.0116990805	0.00254	T	0.00463	0.11472	T	0.045	0.12272	.	.	0.128392430309	0.12331	.	.	0.0564535729519	0.06238	0.282495081425	0.07842	T	0.006188	0.05627	T	-0.646184	0.00076	T	-0.700022	0.05824	T	0.000848177014579988	0.00008	T	0.475352	0.14216	T	0.053250786	0.10048	0.088017575	0.20495	0.053250786	0.10048	0.088017575	0.20494	-2.225	0.04163	T	.	.	0.088	0.11701	B	.;.	.;.	0.369904	0.07422	4.053	0.56455259051439732	0.05556	0.12454	0.17279	N	AEFDIJ	0.013766	0.00195	N	-1.03786454232493	0.07828	0.3649684	-1.00873588633329	0.09592	0.4781257	0.00782027977440591	0.11550	0.626454	0.40138	0	0.659464	0.62310	0	0.80507	0.99327	0	0.655142	0.61905	0	.	.	5.73	-4.72	0.03032	0.715000	0.25493	-1.826000	0.04656	-0.120000	0.14102	0.653000	0.28198	0.000000	0.08366	0.992000	0.67800	0.0:0.5858:0.2339:0.1803	10.270	0.42658	374	0.84073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1193.98	33	chr11	31783490	.	T	C	1193.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.329e+00;DP=803;ExcessHet=0.0000;FS=4.848;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=-2.520e-01;SOR=0.654	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1135	20	0	1	0
chr11	31789914	31789915	TT	-	exonic	PAX6	.	frameshift deletion	PAX6:NM_001368929:exon9:c.729_730del:p.K244Gfs*7	Aniridia, Autosomal dominant;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy, Autosomal dominant;Foveal hypoplasia 1, Autosomal dominant;Keratitis, Autosomal dominant;Optic nerve hypoplasia, Autosomal dominant	.	5	30	45	6	140	197	0.487179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8623.07	44	chr11	31789912	.	CTTT	C,CT,CTT	8623.07	.	AC=4,9,18;AF=0.095,0.214,0.429;AN=42;BaseQRankSum=0.737;DP=1820;ExcessHet=7.7275;FS=2.324;InbreedingCoeff=-0.3548;MLEAC=4,9,18;MLEAF=0.095,0.214,0.429;MQ=59.99;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.919;SOR=0.976	GT:AD:DP:GQ:PL	0/2:14,8,14,14:50:26:458,172,773,0,333,334,106,136,26,241	0	0	0	0
chr11	31789915	31789915	T	-	exonic	PAX6	.	frameshift deletion	PAX6:NM_001368929:exon9:c.729delA:p.K244Rfs*29	Aniridia, Autosomal dominant;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy, Autosomal dominant;Foveal hypoplasia 1, Autosomal dominant;Keratitis, Autosomal dominant;Optic nerve hypoplasia, Autosomal dominant	.	5	30	45	6	140	197	0.487179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8623.07	44	chr11	31789912	.	CTTT	C,CT,CTT	8623.07	.	AC=4,9,18;AF=0.095,0.214,0.429;AN=42;BaseQRankSum=0.737;DP=1820;ExcessHet=7.7275;FS=2.324;InbreedingCoeff=-0.3548;MLEAC=4,9,18;MLEAF=0.095,0.214,0.429;MQ=59.99;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.919;SOR=0.976	GT:AD:DP:GQ:PL	0/2:14,8,14,14:50:26:458,172,773,0,333,334,106,136,26,241	0	0	0	0
chr11	32594950	32594950	T	A	exonic	EIF3M	.	nonsynonymous SNV	EIF3M:NM_001307929:exon4:c.T258A:p.F86L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.043	B	0.027	B	0.000	D	1.000	D	2.035	M	1.14	T	-0.958	T	0.139	T	0.883	3.276	17.00	-0.3	0.145	1.155	10.927	0.224	0.0217468940193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.37118	T	0.013	0.63918	D	0.043	0.21573	B	0.027	0.21085	B	0.000000	0.84330	D	0.044043	0.999997	0.58761	D	1.885	0.50048	L	1.14	0.56937	T	-4.15	0.75537	D	0.86	0.91736	-0.9575	0.39644	T	0.139	0.45810	T	10	0.6778835	0.71101	D	0.021747	0.44560	T	0.224	0.52174	0.644	0.78117	0.867546794744	0.86626	0.733553343052195	0.73300	0.881335486434	0.69781	0.861138701439	0.91280	D	0.357565	0.72425	T	0.218156	0.75603	D	0.0755897	0.75285	D	0.91304486989975	0.56917	D	0.948405	0.80130	D	0.44580892	0.63775	0.2462634	0.50132	0.44580892	0.63776	0.2462634	0.50131	-6.65	0.60961	T	.	.	0.986	0.92899	P	.;.;.;.	.;.;.;.	3.415100	0.47393	22.4	0.99121292363020119	0.53011	0.97677	0.76345	D	AEFGBI	0.850285	0.76711	D	-0.457795102512277	0.23476	1.26099	-0.359721190804064	0.26210	1.446193	0.927453782594647	0.26889	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.17	-0.3	0.12169	1.157000	0.31335	1.059000	0.23704	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.3197:0.0:0.6803	10.927	0.46411	558	0.71484	Proteasome component (PCI) domain;.;.;Proteasome component (PCI) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1734.98	33	chr11	32594950	.	T	A	1734.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.050e-01;DP=840;ExcessHet=0.0000;FS=3.899;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=-3.330e-01;SOR=0.456	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1254	20	0	1	0
chr11	32613442	32613442	A	C	exonic	CCDC73	.	nonsynonymous SNV	CCDC73:NM_001008391:exon16:c.T2876G:p.V959G,	.	.	437	1072	12	1	0	14	0.00648749	.	.	2816550	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.37	T	0.001	B	0.003	B	0.032	N	1.000	N	0	N	.	.	-1.049	T	0.023	T	0.193	0.683	7.651	-10.7	-2.993	-1.085	2.231	0.030	.	0.0025	0.00319489	0.0027	0.0003	0.0016	0	0.0005	0.0026	0.0034	0.0076	0.0026843	415	154602	rs117521878	0.0031	0.0031	0.0029	0.0033	0.0076	0.0030	0.0030	0.0067	0.0065	0.0006	0.0020	0.0001	0	0.0003	0.0076	0.0032	0.0030	0.0072	0.0026	0.0026	0.0027	0.0024	0.0085	0.0024	0.0023	0.0064	0.0057	0.0008	0	0.0050	0	0	0.0004	0.0068	0.0033	0.0052	0.0085	0.164	0.23360	T	0.086	0.40909	T	0.001	0.07471	B	0.003	0.08700	B	0.031593	0.01739	N	2.368670	1	0.08975	N	0.49	0.13296	N	.	.	.	-0.9	0.24244	N	0.111	0.09772	-1.0490	0.14677	T	0.023	0.09832	T	9	0.0032474399	0.00055	T	.	.	.	0.030	0.07022	.	.	0.166414681773	0.16258	0.0870446707294707	0.08638	0.14572603908	0.16455	0.254727810621	0.04282	T	0.007058	0.06479	T	-0.578454	0.00197	T	-0.599681	0.12839	T	0.00588556930897067	0.00065	T	0.164684	0.01513	T	0.054375637	0.10424	0.037919555	0.03546	0.054375637	0.10424	0.037919555	0.03546	-3.911	0.22467	T	.	.	0.094	0.14385	B	.	.	-0.937552	0.00865	0.031	0.59534308735025521	0.06247	0.04986	0.10758	N	AEFCI	0.064909	0.12630	N	-1.64566071240721	0.01054	0.04570865	-1.76305215790034	0.00885	0.03955443	0.999999996449416	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.34	-10.7	0.00191	-1.218000	0.03086	0.010000	0.13426	-0.112000	0.15009	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1232:0.3684:0.193:0.3154	2.231	0.03751	383	0.83590	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1190.98	35	chr11	32613442	.	A	C	1190.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.380e-01;DP=812;ExcessHet=0.0000;FS=2.342;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.45;ReadPosRankSum=-1.243e+00;SOR=0.963	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1201	20	0	1	0
chr11	32613532	32613532	G	A	exonic	CCDC73	.	nonsynonymous SNV	CCDC73:NM_001008391:exon16:c.C2786T:p.S929F,	.	.	435	1072	14	1	0	16	0.00740741	.	.	2816551	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.534	P	0.118	B	0.099	N	0.737	N	0	N	.	.	-1.069	T	0.032	T	0.204	1.202	9.883	4.19	1.067	4.415	10.671	0.095	.	0.0024	0.00319489	0.0027	0.0003	0.0016	0	0.0005	0.0026	0.0033	0.0075	0.0026714	413	154602	rs149853604	0.0031	0.0031	0.0029	0.0033	0.0078	0.0030	0.0030	0.0068	0.0066	0.0006	0.0020	0.0001	0	0.0002	0.0078	0.0032	0.0030	0.0072	0.0025	0.0026	0.0027	0.0024	0.0085	0.0023	0.0023	0.0064	0.0057	0.0008	0	0.0050	0	0	0.0003	0.0068	0.0033	0.0052	0.0085	0.004	0.65419	D	0.005	0.72224	D	0.534	0.37787	P	0.118	0.32088	B	0.098980	0.19956	N	0.493717	1	0.08975	N	0.69	0.16971	N	.	.	.	-1.34	0.33401	N	0.269	0.30461	-1.0687	0.09701	T	0.032	0.13723	T	9	0.0036777854	0.00067	T	.	.	.	0.095	0.27398	.	.	0.0551355673512	0.04727	0.12016079996269702	0.11943	0.219812940165	0.24518	0.249660089612	0.03732	T	0.049307	0.28270	T	-0.456292	0.01036	T	-0.424343	0.30579	T	0.023110020169459	0.01037	T	0.682432	0.29103	T	0.11256051	0.26591	0.14710388	0.34826	0.11256051	0.26591	0.14710388	0.34825	-7.572	0.58115	D	.	.	0.153	0.33958	B	.	.	3.185315	0.43259	21.7	0.99222949804136629	0.55963	0.59657	0.30976	D	AEFHCI	0.377192	0.46105	N	-0.286839970934702	0.29656	1.646502	-0.221870598775871	0.30754	1.734314	0.998008673484155	0.36301	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.18	4.19	0.48645	4.887000	0.62848	7.596000	0.61403	0.665000	0.62972	0.991000	0.37257	1.000000	0.68203	0.940000	0.48062	0.0995:0.0:0.9005:0.0	10.671	0.44955	380	0.83728	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1586.98	35	chr11	32613532	.	G	A	1586.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=847;ExcessHet=0.0000;FS=5.777;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.92;ReadPosRankSum=0.804;SOR=0.964	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1201	20	0	1	0
chr11	32954076	32954076	T	C	exonic	QSER1	.	nonsynonymous SNV	QSER1:NM_001076786:exon5:c.T4397C:p.I1466T,	.	.	423	1086	12	1	0	14	0.00640439	.	.	3308356	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	2.425	M	1.64	T	-0.259	T	0.405	T	0.902	4.537	24.5	5.92	2.267	7.698	16.371	0.366	0.0379090316982	0.0014	0.000399361	0.0015	0.0008	0.0010	0	0	0.0017	0	0.0024	0.0015071	233	154602	rs201036288	0.0025	0.0025	0.0025	0.0025	0.0029	0.0024	0.0024	0.0028	0.0028	0.0004	0.0011	0	2.519e-05	0.0001	0.0014	0.0029	0.0028	0.0024	0.0012	0.0012	0.0014	0.0010	0.0021	0.0011	0.0010	0.0018	0.0017	0.0006	0	0.0009	0.0003	0	0	0.0034	0.0021	0.0014	0.0010	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.946	0.68276	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.42	0.70002	M	1.64	0.27822	T	-3.07	0.63207	D	0.759	0.75742	-0.2594	0.76104	T	0.405	0.75487	T	10	0.01822859	0.00395	T	0.037909	0.57903	D	0.366	0.68582	.	.	0.187035705434	0.18338	0.45836074342984634	0.45754	0.509821056662	0.49115	0.468420743942	0.34463	T	0.217508	0.57997	T	-0.0463307	0.45003	T	0.158567	0.80718	D	0.0213190037330168	0.00834	T	0.956004	0.83260	D	0.47408083	0.65540	0.49491948	0.70789	0.47408083	0.65541	0.49491948	0.70790	-3.436	0.15545	T	.	.	0.497	0.64426	A	.;.	.;.	4.407633	0.68162	25.2	0.99879176132692116	0.95572	0.98661	0.85270	D	AEFBI	0.888606	0.82190	D	0.531078852286149	0.68938	5.28653	0.598988692807381	0.74867	6.210746	0.999999980872158	0.74766	0.722319	0.85440	0	0.653731	0.59785	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	7.674000	0.83146	6.158000	0.54298	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.371	0.83195	369	0.84396	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2303.98	41	chr11	32954076	.	T	C	2303.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.434;DP=928;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.26;ReadPosRankSum=-1.265e+00;SOR=0.712	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr11	33085948	33085948	G	A	exonic	CSTF3	.	nonsynonymous SNV	CSTF3:NM_001326:exon19:c.C1837T:p.P613S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.991	D	0.962	D	0.000	D	1.000	D	1.845	L	.	.	-0.421	T	0.412	T	0.57	4.701	26.1	6.17	2.941	9.675	20.879	0.385	0.018622287866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.455e-06	1.231e-05	1.432e-06	1.48e-06	1.865e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.865e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.0	0.92824	D	0.991	0.64070	D	0.962	0.70672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.015	0.55033	M	.	.	.	-6.31	0.90812	D	0.525	0.55453	-0.4215	0.71343	T	0.412	0.75992	T	8	0.9084526	0.90210	D	0.018622	0.40743	T	0.385	0.70194	0.826	0.93721	0.511911713033	0.50833	0.885045201905812	0.88473	2.47938944519	0.97530	0.844974219799	0.88853	D	0.520901	0.83243	D	0.10266	0.64579	D	-0.0903126	0.64138	T	0.99573141336441	0.87972	D	0.960904	0.86380	D	0.54860973	0.69878	0.59958357	0.76740	0.54860973	0.69879	0.59958357	0.76741	-5.785	0.44443	T	.	.	0.983	0.91815	P	.;.	.;.	5.094266	0.85087	28.5	0.99882518470572146	0.95813	0.99420	0.95802	D	AEFBI	0.878547	0.80389	D	0.859076414803033	0.89619	10.04646	0.8834401244028	0.94808	13.06098	0.999999999990392	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	9.806000	0.98257	11.894000	0.99172	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	20.879	0.99870	537	0.73184	Suppressor of forked;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05882	64.55	62	chr11	33085948	.	G	A	64.55	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-2.399e+00;DP=1259;ExcessHet=0.1072;FS=70.487;InbreedingCoeff=-0.1161;MLEAC=2;MLEAF=0.059;MQ=60.00;MQRankSum=0.00;QD=0.54;ReadPosRankSum=1.13;SOR=5.417	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:53:.:.:0,53,1135	15	0	2	4
chr11	33085953	33085953	G	A	exonic	CSTF3	.	nonsynonymous SNV	CSTF3:NM_001326:exon19:c.C1832T:p.P611L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.874	P	0.828	P	0.000	D	1.000	D	2.615	M	.	.	-0.107	T	0.505	D	0.656	5.013	29.5	6.03	2.861	9.675	20.557	0.486	0.0396852524191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.326e-05	6.43e-05	1.157e-05	1.503e-05	6.053e-05	8.29e-06	6.84e-06	2.012e-05	1.152e-05	0	3.446e-05	4.916e-05	0	0	0	1.035e-05	1.79e-05	6.053e-05	6.62e-06	1.317e-05	1.292e-05	0	2.439e-05	0	0	.	.	2.439e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.004	0.74150	D	0.874	0.48047	P	0.828	0.59497	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.365	0.68172	M	.	.	.	-7.33	0.94566	D	0.652	0.66272	-0.1073	0.79931	T	0.505	0.81344	D	8	0.95427924	0.94780	D	0.039685	0.58951	D	0.486	0.77464	0.873	0.96477	0.54507417769	0.54161	0.684483676958743	0.68387	1.74875396502	0.90984	0.900665163994	0.96514	D	0.370097	0.73469	T	0.196326	0.73549	D	0.0442322	0.73204	D	0.996447443962097	0.89358	D	0.967803	0.88985	D	0.7057624	0.78373	0.7466418	0.85024	0.7057624	0.78374	0.7466418	0.85025	-9.063	0.68102	D	.	.	0.945	0.86433	P	.;.	.;.	5.400781	0.90444	31	0.99879928330334211	0.95653	0.99474	0.96475	D	AEFBI	0.884655	0.81451	D	0.869130109929946	0.90168	10.28302	0.885875043347139	0.94926	13.16032	0.999999999979658	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	9.806000	0.98257	11.894000	0.99172	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.557	0.99307	537	0.73184	Suppressor of forked;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4167	1267.41	50	chr11	33085953	.	G	A	1267.41	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.118e+00;DP=1212;ExcessHet=1.1607;FS=252.446;InbreedingCoeff=-0.4237;MLEAC=9;MLEAF=0.750;MQ=60.00;MQRankSum=0.00;QD=3.22;ReadPosRankSum=1.37;SOR=9.289	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:38,0:38:0:.:.:0,0,851	1	0	5	15
chr11	33328525	33328525	A	G	exonic	HIPK3	.	nonsynonymous SNV	HIPK3:NM_001048200:exon3:c.A1113G:p.I371M	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.985	D	0.000	D	1.000	D	0.755	N	-0.39	T	-0.452	T	0.301	T	0.847	3.158	16.56	5.46	2.185	2.022	7.743	0.542	0.0605426748421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.992	0.77913	D	0.9	0.76457	P	0.000002	0.62929	D	0.000000	0.999997	0.58761	D	1.11	0.28643	L	-0.39	0.69158	T	-2.46	0.53898	N	0.88	0.88687	-0.4517	0.70344	T	0.301	0.67214	T	10	0.82984984	0.82150	D	0.060543	0.68036	D	0.542	0.80901	0.592	0.72123	0.910898013865	0.91000	0.7624165499410834	0.76189	0.733378337434	0.62839	0.904931902885	0.96968	D	0.178239	0.52882	T	0.245192	0.78149	D	0.114425	0.77865	D	0.934089004993439	0.60131	D	0.940906	0.77861	D	0.67721534	0.76819	0.5252721	0.72572	0.67721534	0.76821	0.5252721	0.72573	-9.828	0.72876	D	.	.	0.652	0.71261	P	.;.;.;.	.;.;.;.	4.032489	0.59644	24.1	0.9916180084645162	0.54127	0.86746	0.46093	D	AEFBI	0.294351	0.40474	N	0.44507303671382	0.63923	4.635841	0.47458453703955	0.66310	4.935552	0.999898781480164	0.45129	0.736574	0.97449	0	0.633656	0.55848	0	0.658983	0.55881	0	0.677812	0.66336	0	.	.	5.46	5.46	0.80021	1.502000	0.35312	5.970000	0.51981	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.7188:0.1436:0.0:0.1376	7.743	0.28017	380	0.83728	.;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1362.98	35	chr11	33328525	.	A	G	1362.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.990e-01;DP=804;ExcessHet=0.0000;FS=0.695;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=-5.640e-01;SOR=0.608	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr11	33348524	33348524	G	A	exonic	HIPK3	.	nonsynonymous SNV	HIPK3:NM_001048200:exon12:c.G2309A:p.S770N	.	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.007	B	0.006	B	0.000	D	0.961	D	0.77	N	1.96	T	-1.089	T	0.052	T	0.164	1.669	11.54	6.16	2.937	4.057	15.564	0.070	0.00437592162165	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1458659568	1.383e-06	2.737e-06	0	2.781e-06	2.345e-05	2.3e-07	9e-08	3.89e-06	1.46e-06	0	0	0	0	0	0	0	0	2.345e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.27544	T	0.594	0.19073	T	0.004	0.14184	B	0.006	0.12133	B	0.000000	0.84330	D	0.000000	0.889502	0.38208	D	0	0.06538	N	1.96	0.22881	T	-0.44	0.14588	N	0.199	0.22228	-1.0886	0.05770	T	0.052	0.22037	T	10	0.123004586	0.30776	T	0.004376	0.10655	T	0.070	0.20419	0.365	0.37199	0.255117706274	0.25116	0.33354578826268844	0.33267	0.210819982291	0.23580	0.528872013092	0.42874	T	0.022337	0.17240	T	-0.274839	0.11223	T	-0.531933	0.19094	T	0.314157776204085	0.25584	T	0.70223	0.31206	T	0.13066204	0.30482	0.17728148	0.40320	0.13066204	0.30481	0.17728148	0.40319	-3.918	0.22572	T	.	.	0.092	0.13550	B	.;.;.;.	.;.;.;.	3.043283	0.40808	21.2	0.98445653610976003	0.41564	0.97649	0.76151	D	AEFBI	0.599100	0.59225	D	0.0657943390850694	0.44872	2.753478	0.293601555432501	0.55166	3.679845	0.823164295806035	0.24560	0.706548	0.73137	0	0.653731	0.59785	0	0.463624	0.06942	0	0.714379	0.83352	0	.	.	6.16	6.16	0.99302	3.939000	0.56302	9.896000	0.82311	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8622:0.1378	15.564	0.76010	359	0.84979	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	527.98	46	chr11	33348524	.	G	A	527.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.351;DP=721;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=0.905;SOR=0.656	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1125	20	0	1	0
chr11	33351822	33351822	G	A	exonic	HIPK3	.	nonsynonymous SNV	HIPK3:NM_001048200:exon14:c.G2959A:p.D987N	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.001	B	0.002	B	0.002	N	0.804	N	0	N	0.71	T	-1.040	T	0.069	T	0.027	2.348	13.81	4.87	1.428	3.583	11.682	0.066	0.0047017886237	0.0002	.	0.0002	0	0	0	0	0.0002	0	0.0004	0.0001294	20	154602	rs200039689	0.0002	0.0002	0.0001	0.0002	0.0010	0.0002	0.0002	0.0005	0.0003	0	0	0	2.519e-05	0	0.0010	0.0002	0.0001	0.0003	7.884e-05	7.88e-05	0.0001	5.379e-05	0.0001	4.496e-05	3.512e-05	7.909e-05	5.994e-05	2.413e-05	0	0	0	0	0	0	0.0001	0.0005	0	0.353	0.13306	T	0.656	0.06598	T	0.001	0.07471	B	0.002	0.06944	B	0.002123	0.37183	N	0.184686	0.804372	0.29076	N	1.7	0.43825	L	0.71	0.51474	T	0.66	0.02297	N	0.369	0.41162	-1.0397	0.17404	T	0.069	0.28213	T	10	0.102360606	0.18755	T	0.004702	0.11691	T	0.066	0.19193	.	.	0.589340249404	0.58608	0.2546103426583159	0.25375	0.210666846013	0.23558	0.350961685181	0.18063	T	0.012413	0.10917	T	-0.498737	0.00581	T	-0.648201	0.09080	T	0.0387866619420025	0.03471	T	0.852015	0.53695	D	0.05684792	0.11239	0.0439414	0.05582	0.05684792	0.11239	0.0439414	0.05581	-3.238	0.12951	T	.	.	0.070	0.03625	B	.;.;.;.	.;.;.;.	2.855650	0.37718	20.6	0.99717858075428578	0.81843	0.95826	0.66318	D	AEFBI	0.143468	0.26617	N	-0.342776047200072	0.27538	1.511705	-0.159284474033336	0.33053	1.886703	0.0165585535383871	0.12845	0.706548	0.73137	0	0.724815	0.89359	0	0.566861	0.19136	0	0.714379	0.83352	0	.	.	5.79	4.87	0.62877	3.844000	0.55583	5.682000	0.49299	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.1343:0.726:0.1397	11.682	0.50723	355	0.85216	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1607.98	34	chr11	33351822	.	G	A	1607.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.340;DP=829;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.62;ReadPosRankSum=-1.907e+00;SOR=0.747	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1261	20	0	1	0
chr11	33543029	33543029	C	T	exonic	KIAA1549L	.	nonsynonymous SNV	KIAA1549L:NM_012194:exon2:c.C1466T:p.A489V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.975	D	0.505	P	0.976	N	1.000	N	1.04	L	.	.	-1.052	T	0.059	T	0.023	1.027	9.193	1.26	0.079	-0.507	4.066	0.009	0.021879617209	.	0.000399361	6.632e-05	0	0	0.0001	0	0	0	0.0004	6.47e-05	10	154602	rs574933627	4.311e-05	4.309e-05	2.995e-05	5.639e-05	0.0005	3.443e-05	3.129e-05	0.0003	0.0003	0	0	0	2.519e-05	0	0.0002	1.439e-05	8.282e-05	0.0005	4.594e-05	4.593e-05	3.853e-05	5.369e-05	0.0012	2.107e-05	1.525e-05	0.0005	0.0004	0	0	0	0	0	0	0	1.47e-05	0	0.0012	0.144	0.26965	T	0.632	0.18560	T	0.975	0.58077	D	0.505	0.47795	P	0.975569	0.08129	N	0.986267	1	0.08975	N	0.895	0.22405	L	.	.	.	-0.87	0.23590	N	0.023	0.00770	-1.0522	0.13790	T	0.059	0.24908	T	9	0.01527667	0.00321	T	0.02188	0.44707	T	0.009	0.00846	.	.	0.0551355673512	0.04727	0.1189732685767881	0.11824	0.174515240809	0.19649	0.260654062033	0.04969	T	0.03348	0.22931	T	-0.604663	0.00136	T	-0.749956	0.03487	T	0.019241312654735	0.00630	T	0.49705	0.15447	T	0.018557725	0.00378	0.033976723	0.02383	0.018557725	0.00377	0.033976723	0.02382	-4.109	0.25701	T	.	.	0.085	0.10256	B	.;.	.;.	0.534840	0.09034	5.817	0.95055026982366531	0.26077	0.01820	0.05660	N	AEFDGBHCI	0.040079	0.05910	N	-0.935588641483993	0.10018	0.4768016	-1.03185818556665	0.09089	0.4502651	0.999999991318725	0.74766	0.758104	0.99027	0	0.61073	0.52368	0	0.505578	0.09266	0	0.665031	0.64506	0	.	.	4.35	1.26	0.20534	-0.445000	0.06918	-1.693000	0.04903	-1.820000	0.00602	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.1618:0.5428:0.0:0.2954	4.066	0.09339	684	0.59539	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2152.98	134	chr11	33543029	.	C	T	2152.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.190e-01;DP=1536;ExcessHet=0.0000;FS=3.457;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=1.75;SOR=0.702	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr11	33606778	33606778	A	C	exonic	KIAA1549L	.	nonsynonymous SNV	KIAA1549L:NM_012194:exon14:c.A5017C:p.T1673P,	.	.	425	1087	10	0	0	10	0.00457875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.007	B	0.01	B	0.093	N	1.000	N	1.04	L	.	.	-1.079	T	0.048	T	0.342	1.172	9.769	-7.46	-1.359	1.323	3.938	0.130	0.00277276727028	0.0002	0.000599042	0.0012	0.0001	0.0014	0	0	0.0014	0	0.0019	0.0008732	135	154602	rs199776321	0.0008	0.0008	0.0007	0.0009	0.0123	0.0007	0.0007	0.0100	0.0092	0.0008	0.0010	0.0137	0	0	0.0123	0.0003	0.0021	0.0017	0.0007	0.0007	0.0007	0.0006	0.0009	0.0006	0.0005	0.0006	0.0004	0.0002	0	0.0009	0.0118	0	0	0.0102	0.0004	0.0005	0.0008	0.284	0.15303	T	0.152	0.32249	T	.	.	.	.	.	.	0.093459	0.20223	N	0.556859	1	0.08975	N	0.11	0.08516	N	.	.	.	-0.14	0.09135	N	0.141	0.14054	-1.0785	0.07641	T	0.048	0.20434	T	9	0.0030603409	0.00050	T	0.002773	0.05752	T	0.130	0.35528	.	.	0.0846915920261	0.08053	0.14824664572716612	0.14746	0.226095506065	0.25162	0.281315803528	0.07677	T	0.025846	0.19245	T	-0.438906	0.01313	T	-0.409401	0.32295	T	0.000340188431040199	0.00003	T	0.527447	0.17405	T	0.056069683	0.10981	0.06587879	0.13414	0.056069683	0.10981	0.06587879	0.13413	-2.616	0.06625	T	.	.	0.056	0.01470	B	.;.	.;.	0.343854	0.07174	3.759	0.75016758292641461	0.10914	0.19262	0.20592	N	AEFBI	0.190347	0.31758	N	-1.31153977468518	0.03542	0.1584078	-1.37334065366999	0.03538	0.165257	0.687568234478271	0.22551	0.706548	0.73137	0	0.670034	0.63936	0	0.616094	0.41390	0	0.714379	0.83352	0	.	.	5.43	-7.46	0.01225	1.067000	0.30227	0.031000	0.13732	-0.133000	0.13014	0.157000	0.23755	0.000000	0.08366	0.416000	0.27139	0.1052:0.1132:0.4511:0.3305	3.938	0.08811	669	0.61081	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	735.98	33	chr11	33606778	.	A	C	735.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=766;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=-1.027e+00;SOR=0.772	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1290	20	0	1	0
chr11	33645988	33645988	G	C	exonic	KIAA1549L	.	nonsynonymous SNV	KIAA1549L:NM_012194:exon17:c.G5712C:p.W1904C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	1.000	D	0.805	L	.	.	-0.516	T	0.261	T	0.856	3.575	18.22	4.51	1.422	5.983	14.672	0.887	0.0101809855604	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1220123982	6.18e-06	6.156e-06	5.462e-06	6.907e-06	6.309e-06	2.91e-06	2.11e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.309e-06	3.326e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.011	0.64786	D	.	.	.	.	.	.	0.000005	0.62929	D	0.000000	1	0.81001	D	0.895	0.22405	L	.	.	.	-9.99	0.98804	D	0.847	0.84298	-0.5163	0.68054	T	0.261	0.63165	T	9	0.93288076	0.92623	D	0.010181	0.26412	T	0.887	0.96725	.	.	0.224531998449	0.22054	0.4190536390881229	0.41821	0.88970380947	0.70172	0.833856463432	0.87153	D	0.385652	0.74699	T	0.336528	0.85603	D	0.265894	0.86368	D	0.995687305927277	0.87878	D	0.936906	0.76326	D	0.817433	0.85047	0.7974617	0.88110	0.817433	0.85049	0.7974617	0.88111	-8.592	0.65036	D	.	.	0.983	0.91793	P	.	.	5.297390	0.88941	29.8	0.99037131584866744	0.50939	0.96540	0.69650	D	AEFDBI	0.789329	0.71855	D	0.506057422750013	0.67447	5.082916	0.519580822246489	0.69307	5.341958	0.997699233454953	0.35915	0.706298	0.61202	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.42	4.51	0.54589	7.430000	0.79505	11.807000	0.96822	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0704:0.0:0.9296:0.0	14.672	0.68559	741	0.52966	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1836.98	73	chr11	33645988	.	G	C	1836.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.910;DP=1390;ExcessHet=0.0000;FS=4.213;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.14;ReadPosRankSum=-4.700e-01;SOR=0.466	GT:AD:DP:GQ:PL	0/0:79,0:79:99:0,120,1800	20	0	1	0
chr11	33710315	33710315	C	G	exonic	CD59	.	nonsynonymous SNV	CD59:NM_001127223:exon3:c.G198C:p.K66N	Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.951	D	0.025	N	1.000	N	2.395	M	-0.48	T	-0.538	T	0.411	T	0.137	2.539	14.45	-0.258	-0.029	-0.446	6.788	0.177	0.340075616414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	3.42e-06	0	6.876e-06	5.797e-05	1e-06	7.3e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.018	0.59732	D	0.996	0.68779	D	0.951	0.68939	D	0.024567	0.26239	N	0.433382	1	0.08975	N	2.705	0.79137	M	-0.48	0.70249	T	-3.52	0.68412	D	0.223	0.25006	-0.5379	0.67243	T	0.411	0.75971	T	10	0.58014977	0.65803	D	0.340076	0.91990	D	0.202	0.48754	0.746	0.87738	0.688606724148	0.68593	.	.	0.655417538729	0.58589	0.366684615612	0.20354	T	0.74553	0.92986	D	-0.132194	0.31142	T	-0.427664	0.30200	T	0.968457758426666	0.68249	D	0.587941	0.21633	T	0.76820695	0.81940	0.5410289	0.73474	0.76820695	0.81942	0.5410289	0.73474	-7.35	0.56551	T	0.2980579573009741	0.39522	0.643	0.70654	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.097853	0.14821	11.35	0.99150674235148084	0.53793	0.14899	0.18642	N	AEFBCI	0.166539	0.29314	N	-0.941770828303784	0.09878	0.4695171	-1.0544925857768	0.08614	0.4243679	0.999991318588186	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	4.36	-0.258	0.12334	-0.442000	0.06943	-0.929000	0.06890	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.4857:0.0:0.5143	6.788	0.22869	768	0.49510	.;Ly-6 antigen/uPA receptor-like|CD59 antigen, conserved site|Ly-6 antigen/uPA receptor-like;Ly-6 antigen/uPA receptor-like|CD59 antigen, conserved site|Ly-6 antigen/uPA receptor-like;Ly-6 antigen/uPA receptor-like|CD59 antigen, conserved site|Ly-6 antigen/uPA receptor-like;Ly-6 antigen/uPA receptor-like|CD59 antigen, conserved site|Ly-6 antigen/uPA receptor-like;Ly-6 antigen/uPA receptor-like|CD59 antigen, conserved site|Ly-6 antigen/uPA receptor-like;Ly-6 antigen/uPA receptor-like|CD59 antigen, conserved site|Ly-6 antigen/uPA receptor-like;Ly-6 antigen/uPA receptor-like|CD59 antigen, conserved site|Ly-6 antigen/uPA receptor-like;Ly-6 antigen/uPA receptor-like|CD59 antigen, conserved site|Ly-6 antigen/uPA receptor-like;Ly-6 antigen/uPA receptor-like|CD59 antigen, conserved site|Ly-6 antigen/uPA receptor-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2635.98	33	chr11	33710315	.	C	G	2635.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.546e+00;DP=900;ExcessHet=0.0000;FS=1.863;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=-8.940e-01;SOR=0.548	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1134	20	0	1	0
chr11	34090548	34090548	C	G	exonic	CAPRIN1	.	nonsynonymous SNV	CAPRIN1:NM_005898:exon14:c.C1424G:p.T475R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.491	P	0.243	B	0.241	N	1.000	D	1.04	L	1.85	T	-1.099	T	0.063	T	0.242	6.256	37	5.72	2.689	7.133	19.873	0.056	0.00995964189481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.11015	T	0.327	0.30045	T	0.491	0.36960	P	0.243	0.38752	B	0.241256	0.15707	N	0.685359	0.999993	0.58761	D	1.245	0.31408	L	1.85	0.24472	T	-0.99	0.28290	N	0.3	0.41656	-1.0989	0.04227	T	0.063	0.26244	T	10	0.18405288	0.33761	T	0.00996	0.25923	T	0.056	0.15993	0.203	0.11797	0.291402777868	0.28757	0.24332834004804382	0.24246	0.2740472631	0.29904	0.459105819464	0.33187	T	0.093359	0.39194	T	-0.153217	0.27810	T	-0.457862	0.26832	T	0.761967301368713	0.43964	D	0.809719	0.46038	T	0.10405012	0.24596	0.13933164	0.33247	0.10405012	0.24596	0.13933164	0.33246	-5.292	0.39864	T	.	.	0.181	0.44293	B	.;.;.;.;.	.;.;.;.;.	4.736387	0.76341	26.5	0.9960992126058259	0.74753	0.99807	0.99597	D	AEFGBI	0.940355	0.94219	D	0.243806376163049	0.53334	3.502668	0.408890721361947	0.62118	4.421977	0.999999991912218	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.72	5.72	0.89380	7.321000	0.78359	7.706000	0.66547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.873	0.96856	366	0.84579	Cytoplasmic activation/proliferation-associated protein-1 C term;.;Cytoplasmic activation/proliferation-associated protein-1 C term;.;Cytoplasmic activation/proliferation-associated protein-1 C term	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1879.98	33	chr11	34090548	.	C	G	1879.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.80;DP=857;ExcessHet=0.0000;FS=3.862;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.53;ReadPosRankSum=-2.240e-01;SOR=1.033	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1156	20	0	1	0
chr11	34118259	34118259	G	A	exonic	NAT10	.	nonsynonymous SNV	NAT10:NM_001144030:exon5:c.G421A:p.V141I	.	.	425	1074	20	3	0	26	0.0119595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	0.0	B	0.0	B	0.105	N	1.000	N	-0.275	N	1.6	T	-0.995	T	0.027	T	0.052	-1.310	0.035	-3.72	-0.974	0.161	13.249	0.016	0.0072581017845	7.7e-05	0.00159744	0.0012	0	0.0010	0	0	0.0003	0.0022	0.0068	0.0010349	160	154602	rs200281086	0.0007	0.0007	0.0004	0.0009	0.0073	0.0006	0.0006	0.0068	0.0066	5.974e-05	0.0007	0.0003	0	1.873e-05	0.0057	0.0002	0.0008	0.0073	0.0004	0.0004	0.0003	0.0005	0.0068	0.0003	0.0003	0.0050	0.0044	7.221e-05	0	0.0002	0.0012	0	9.438e-05	0	0.0002	0.0019	0.0068	0.712	0.04020	T	0.667	0.07244	T	0.0	0.02946	B	0.0	0.01387	B	0.105105	0.19673	N	0.581663	1	0.08975	N	-0.32	0.03561	N	1.6	0.28604	T	-0.28	0.12661	N	0.202	0.22357	-0.9954	0.31191	T	0.027	0.11441	T	10	0.005977571	0.00134	T	0.007258	0.19253	T	0.016	0.02506	.	.	0.148003135375	0.14442	0.12018189718749481	0.11945	0.157606544175	0.17795	0.224297851324	0.01573	T	0.015696	0.13114	T	-0.697882	0.00038	T	-0.771649	0.02714	T	0.00657670257427901	0.00073	T	0.675332	0.28377	T	0.010757122	0.00010	0.020973336	0.00166	0.010757122	0.00010	0.020973336	0.00166	-2.458	0.08248	T	.	.	0.071	0.03773	B	.;.;.;.	.;.;.;.	-1.092207	0.00650	0.018	0.41104431210079645	0.02944	0.09367	0.15137	N	AEFGBI	0.071951	0.14342	N	-1.83012127711323	0.00476	0.02046864	-1.8206969432121	0.00695	0.03095526	0.00182986892131449	0.08920	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.81	-3.72	0.04125	0.173000	0.16538	-0.230000	0.10685	-2.607000	0.00233	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3424:0.0:0.6576:0.0	13.249	0.59470	332	0.86382	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3694.11	34	chr11	34118259	.	G	A	3694.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.74;DP=1014;ExcessHet=0.1072;FS=2.810;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.35;ReadPosRankSum=-1.480e-01;SOR=0.564	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1209	19	0	2	0
chr11	34118472	34118472	T	A	exonic	NAT10	.	nonsynonymous SNV	NAT10:NM_001144030:exon6:c.T533A:p.V178E	.	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.005	B	0.000	D	1.000	D	1.295	L	1.66	T	-1.076	T	0.057	T	0.94	1.753	11.82	5.29	1.994	7.819	14.901	0.305	0.0179597054977	.	.	2.525e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs767544123	9.577e-06	9.577e-06	2.723e-06	1.65e-05	0.0005	5.56e-06	4.35e-06	0.0001	7.541e-05	0	0	0	0	0	0.0005	1.799e-06	6.624e-05	5.797e-05	6.573e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.678	0.04912	T	0.956	0.02603	T	0.001	0.07471	B	0.005	0.11217	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.59	0.40313	L	1.65	0.27650	T	-0.21	0.14390	N	0.807	0.85979	-1.0763	0.08083	T	0.057	0.23828	T	10	0.46797812	0.59688	T	0.01796	0.39858	T	0.305	0.62620	0.321	0.30064	0.434825671192	0.43100	0.7000636056539792	0.69947	0.319701965432	0.34168	0.761399149895	0.76137	T	0.015876	0.13230	T	0.0584888	0.59423	T	0.0498385	0.73573	D	0.477555930614471	0.31808	T	0.965403	0.87236	D	0.25382712	0.48407	0.24521577	0.50004	0.25382712	0.48406	0.24521577	0.50003	-7.031	0.54260	T	.	.	0.297	0.55651	B	.;.;.;.	.;.;.;.	4.400524	0.67996	25.2	0.90240780947778965	0.19512	0.99548	0.97318	D	AEFGBI	0.898987	0.84287	D	-0.140055316793691	0.35660	2.051045	0.0705169679277808	0.43074	2.61677	0.999992219291391	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.29	5.29	0.74430	7.822000	0.84804	6.146000	0.54124	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.781000	0.36947	0.0:0.0:0.0:1.0	14.901	0.70324	332	0.86382	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1209.98	34	chr11	34118472	.	T	A	1209.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.011e+00;DP=820;ExcessHet=0.0000;FS=10.927;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.47;ReadPosRankSum=-7.900e-02;SOR=0.194	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1209	20	0	1	0
chr11	34127461	34127461	A	G	splicing	NAT10	NM_024662:exon12:c.1108-2A>G;NM_001144030:exon10:c.892-2A>G	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.93	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.933	15.78	5.99	2.291	8.798	16.494	.	.	.	.	8.282e-06	0	0	0	0	1.504e-05	0	0	6.5e-06	1	154602	rs753599572	4.13e-06	4.788e-06	4.101e-06	4.159e-06	4.522e-06	1.49e-06	9.8e-07	1.33e-06	9.6e-07	0	0	0	0	0	0	4.522e-06	1.667e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230489	0.76768	D	0.0933047	0.76466	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	6.735615	0.95662	35	0.99378344460536372	0.61759	0.98653	0.85175	D	ALL	.	.	.	1.09754364802579	0.98088	17.40106	0.931850003782553	0.96816	15.18601	0.999999999975903	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.137589	0.03823	0	0.117559	0.03655	0	0.976456	0.79707	5.99	5.99	0.97299	8.789000	0.91475	11.156000	0.87498	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.393000	0.26625	1.0:0.0:0.0:0.0	16.494	0.84067	330	0.86467	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1585.98	37	chr11	34127461	.	A	G	1585.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.020e-01;DP=808;ExcessHet=0.0000;FS=0.712;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=-1.399e+00;SOR=0.809	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1431	20	0	1	0
chr11	34133032	34133032	C	T	exonic	NAT10	.	nonsynonymous SNV	NAT10:NM_001144030:exon14:c.C1408T:p.P470S	.	.	423	1090	9	0	0	9	0.00411147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.01	H	-0.51	T	0.677	D	0.703	D	0.912	5.218	33	5.63	2.665	7.812	19.694	0.840	0.340056014676	0.001	0.00179712	0.0015	0.0004	0.0010	0	0.0006	0.0019	0.0033	0.0024	0.0015136	234	154602	rs139767479	0.0014	0.0014	0.0013	0.0015	0.0052	0.0013	0.0013	0.0037	0.0033	0.0003	0.0012	0.0060	0	0.0003	0.0052	0.0013	0.0021	0.0021	0.0013	0.0013	0.0012	0.0014	0.0037	0.0012	0.0011	0.0024	0.0020	0.0004	0	0.0025	0.0066	0	0.0002	0.0034	0.0014	0.0014	0.0037	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.455	0.98836	H	-0.51	0.70717	T	-7.74	0.95765	D	0.93	0.93605	0.677	0.92888	D	0.703	0.89790	D	10	0.085134864	0.14341	T	0.340056	0.91990	D	0.840	0.94989	.	.	0.98143452695	0.98123	0.8183256553848752	0.81789	0.775488684363	0.65005	0.773990511894	0.78022	T	0.649938	0.89365	D	0.0804973	0.62098	D	0.336068	0.89758	D	0.205491321397604	0.20715	T	0.999243	0.99707	D	0.8582277	0.87951	0.8568298	0.91964	0.8582277	0.87952	0.8568298	0.91965	-13.431	0.91060	D	.	.	0.991	0.93824	P	.;.;.	.;.;.	4.843599	0.79105	27.0	0.99935357796255697	0.99579	0.99004	0.89829	D	AEFBI	0.893906	0.83234	D	1.06360058767642	0.97399	16.06271	0.976279542910214	0.98113	17.45876	0.999999999957628	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	7.899000	0.85994	7.703000	0.66393	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:1.0:0.0:0.0	19.694	0.96008	333	0.86326	GNAT domain;.;GNAT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2166.98	40	chr11	34133032	.	C	T	2166.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.768;DP=1075;ExcessHet=0.0000;FS=4.196;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.35;ReadPosRankSum=1.87;SOR=0.458	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	20	0	1	0
chr11	34133036	34133036	A	G	exonic	NAT10	.	nonsynonymous SNV	NAT10:NM_001144030:exon14:c.A1412G:p.N471S	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.999	D	0.987	D	0.000	D	1.000	D	2.37	M	1.25	T	-0.703	T	0.217	T	0.115	4.334	22.8	4.5	0.968	7.512	11.716	0.332	0.0255008910487	0.0009	0.000399361	0.0002	0.0019	0.0003	0	0	2.998e-05	0	0.0001	0.000194	30	154602	rs149555377	8.346e-05	8.345e-05	9.394e-05	7.288e-05	0.0015	7.136e-05	6.685e-05	0.0011	0.0010	0.0015	0.0002	3.826e-05	0.0001	0	0.0002	3.777e-05	0.0001	8.116e-05	0.0005	0.0005	0.0005	0.0005	0.0016	0.0004	0.0004	0.0013	0.0012	0.0016	0	0	0	0	0	0	8.824e-05	0.0005	0.0002	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.57	0.75187	M	1.25	0.36512	T	-4.51	0.78222	D	0.358	0.39962	-0.7031	0.60290	T	0.217	0.57863	T	10	0.08174348	0.13415	T	0.025501	0.48466	D	0.332	0.65424	.	.	0.522875369128	0.51932	0.6723916896434081	0.67177	0.464639868286	0.45926	0.527358293533	0.42662	T	0.414645	0.76814	T	-0.450535	0.01121	T	-0.426415	0.30343	T	0.166019632683585	0.18305	T	0.950605	0.81072	D	0.531735	0.68929	0.5396374	0.73394	0.531735	0.68930	0.5396374	0.73395	-10.575	0.77277	D	.	.	0.135	0.41557	B	.;.;.	.;.;.	3.593129	0.50711	23.0	0.99881019574183427	0.95733	0.98708	0.85845	D	AEFBI	0.899200	0.84333	D	0.662143530271264	0.77157	6.620911	0.608328937287298	0.75545	6.329292	0.990929220664812	0.32314	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	4.5	0.54382	7.498000	0.80396	1.998000	0.30109	0.756000	0.94297	1.000000	0.71638	0.500000	0.25199	0.956000	0.50813	0.9308:0.0:0.0692:0.0	11.716	0.50921	333	0.86326	GNAT domain;.;GNAT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2407.98	40	chr11	34133036	.	A	G	2407.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.38;DP=1243;ExcessHet=0.0000;FS=4.921;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=0.107;SOR=1.022	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	20	0	1	0
chr11	34143506	34143506	G	A	exonic	NAT10	.	nonsynonymous SNV	NAT10:NM_001144030:exon26:c.G2731A:p.A911T	.	.	423	1067	28	4	0	36	0.0165899	.	.	712799	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.27	T	0.327	B	0.048	B	0.000	D	1.000	D	1.935	M	1.52	T	-1.104	T	0.045	T	0.241	2.334	13.76	5.58	2.606	4.797	19.569	0.132	.	0.0063	0.00519169	0.0048	0.0117	0.0060	0.0001	0.0002	0.0051	0.0034	0.0029	0.0045472	703	154602	rs36006049	0.0043	0.0043	0.0043	0.0043	0.0239	0.0042	0.0042	0.0207	0.0194	0.0091	0.0054	0.0147	5.038e-05	0.0003	0.0239	0.0042	0.0052	0.0023	0.0059	0.0059	0.0061	0.0057	0.0095	0.0056	0.0054	0.0087	0.0084	0.0095	0	0.0065	0.0161	0	0.0003	0.0034	0.0046	0.0071	0.0031	0.216	0.20078	T	0.364	0.16766	T	0.327	0.33167	B	0.048	0.24975	B	0.000000	0.84330	D	0.048659	0.999998	0.81001	D	1.12	0.28775	L	1.52	0.30669	T	-0.39	0.15379	N	0.3	0.33904	-1.1044	0.03598	T	0.045	0.19397	T	10	0.0068188906	0.00155	T	.	.	.	0.132	0.35948	.	.	0.513901218509	0.51032	0.2319560683068648	0.23110	0.191392387725	0.21466	0.474747747183	0.35335	T	0.011453	0.10219	T	-0.500906	0.00565	T	-0.482898	0.24138	T	0.00889230030748373	0.00110	T	0.829117	0.49388	T	0.09764516	0.23020	0.17693919	0.40262	0.09764516	0.23020	0.17693919	0.40262	-3.804	0.20864	T	.	.	0.093	0.14247	B	.;.	.;.	2.437411	0.31368	18.72	0.99287338102174394	0.58149	0.96961	0.71893	D	AEFBI	0.549680	0.56246	D	0.124578956269109	0.47612	2.98441	0.233387795414629	0.51710	3.351164	0.999999420506852	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	4.913000	0.63039	6.503000	0.55788	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.615000	0.31768	0.0:0.0:1.0:0.0	19.569	0.95398	340	0.86005	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	737.98	33	chr11	34143506	.	G	A	737.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.75;DP=760;ExcessHet=0.0000;FS=2.430;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.06;ReadPosRankSum=-6.770e-01;SOR=0.936	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1222	20	0	1	0
chr11	34167970	34167970	G	A	exonic	ABTB2	.	nonsynonymous SNV	ABTB2:NM_145804:exon6:c.C1586T:p.A529V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.99	D	0.000	D	1.000	D	2.54	M	-0.67	T	0.243	D	0.563	D	0.947	4.417	23.4	5.03	2.329	9.869	18.351	0.764	0.217777810377	.	.	2.493e-05	0	0	0	0	4.525e-05	0	0	2.59e-05	4	154602	rs764089581	1.026e-05	1.026e-05	8.168e-06	1.238e-05	1.259e-05	6.16e-06	4.89e-06	7.31e-06	5.72e-06	0	0	0	0	0	0	1.259e-05	1.656e-05	0	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.003	0.76473	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	2.59	0.75718	M	-0.67	0.72458	T	-3.52	0.68412	D	0.934	0.93959	0.243	0.86628	D	0.563	0.84114	D	10	0.8966032	0.89015	D	0.217778	0.87625	D	0.764	0.92004	.	.	0.880139730637	0.87896	0.9067367156958642	0.90646	0.657197582544	0.58683	0.794866919518	0.81182	T	0.241774	0.61038	T	0.303805	0.83271	D	0.306276	0.88485	D	0.929013788700104	0.59282	D	0.995	0.98400	D	0.7040845	0.78280	0.6437883	0.79179	0.7040845	0.78282	0.6437883	0.79180	-10.841	0.78778	D	.	.	0.828	0.78606	P	.	.	4.914213	0.80885	27.4	0.99922686417028017	0.98852	0.99122	0.91549	D	AEFDGBI	0.923587	0.90029	D	0.77835847062695	0.84735	8.371413	0.700519280654167	0.82416	7.761972	0.999999999999999	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.03	5.03	0.67015	10.003000	0.99689	11.815000	0.97057	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.128000	0.19490	0.0:0.0:1.0:0.0	18.351	0.90280	429	0.80881	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2483.98	34	chr11	34167970	.	G	A	2483.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.670e-01;DP=909;ExcessHet=0.0000;FS=3.252;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=0.268;SOR=0.506	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1329	20	0	1	0
chr11	34890512	34890512	G	A	exonic	APIP	.	stopgain	APIP:NM_015957:exon3:c.C199T:p.R67X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	7.105	38	5.45	2.539	5.829	12.420	.	.	0.0018	0.000199681	0.0022	9.634e-05	8.74e-05	0	0.0027	0.0035	0.0011	0.0004	0.002141	331	154602	rs138288686	0.0024	0.0024	0.0024	0.0023	0.0025	0.0023	0.0023	0.0024	0.0024	0.0003	0.0006	0.0143	7.601e-05	0.0019	0.0011	0.0025	0.0026	0.0006	0.0018	0.0018	0.0018	0.0017	0.0026	0.0016	0.0015	0.0023	0.0022	0.0003	0	0.0003	0.0124	0	0.0020	0	0.0026	0.0024	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.341	0.38232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22663	0.76403	D	0.551606	0.95683	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.042670	0.99894	51	0.99831472144964795	0.91284	0.90000	0.50843	D	AEFBHCI	0.210125	0.33605	N	0.892213050287755	0.91374	10.85101	0.76863020645645	0.87541	9.257935	0.999999988171847	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.699908	0.69081	0	.	.	5.45	5.45	0.79688	5.892000	0.69531	9.943000	0.82671	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.945000	0.48827	0.0:0.0:0.7171:0.2829	12.420	0.54849	775	0.48401	Class II aldolase/adducin N-terminal|Class II aldolase/adducin N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1130.98	91	chr11	34890512	.	G	A	1130.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.410e-01;DP=830;ExcessHet=0.0000;FS=0.799;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=-1.625e+00;SOR=0.537	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1013	20	0	1	0
chr11	34916677	34916677	G	T	exonic	PDHX	.	nonsynonymous SNV	PDHX:NM_001166158:exon1:c.G22T:p.G8C	Lacticacidemia due to PDX1 deficiency, Autosomal recessive	.	1	1519	2	0	0	2	0.000657895	.	.	1417734	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.938	P	0.498	P	0.000	D	1.000	N	.	.	1.93	T	-0.976	T	0.122	T	0.546	4.702	26.1	3.29	0.732	0.211	11.735	0.156	0.0362893049858	.	.	9.384e-05	0	0.0002	0	0	3.102e-05	0	0.0004	7.12e-05	11	154602	rs778248643	5.484e-05	5.883e-05	3.683e-05	7.302e-05	0.0006	4.486e-05	4.155e-05	0.0005	0.0004	2.989e-05	6.708e-05	0	0	0	0.0004	1.439e-05	8.295e-05	0.0006	1.969e-05	1.968e-05	0	4.027e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.005	0.68238	D	0.007	0.74150	D	0.938	0.52538	P	0.498	0.47596	P	0.000048	0.53742	D	0.161766	0.99991	0.51042	D	2.095	0.58118	M	1.93	0.38883	T	-2.66	0.69357	D	0.386	0.47580	-0.9756	0.35993	T	0.122	0.42272	T	9	0.13705611	0.26074	T	0.036289	0.56894	D	0.156	0.40720	.	.	0.581692290366	0.57840	0.7258147240065734	0.72525	0.281412569002	0.30616	0.402329206467	0.25394	T	0.321983	0.69303	T	-0.289902	0.09647	T	-0.332235	0.41220	T	0.17789214479454	0.19101	T	0.779322	0.42389	T	0.41673133	0.61874	0.3520637	0.60790	0.41673133	0.61874	0.3520637	0.60790	-4.147	0.25980	T	.	.	0.142	0.39081	B	.;.;.	.;.;.	2.714167	0.35483	19.91	0.99672948587355048	0.78717	0.14265	0.18311	N	ALL	0.118233	0.23128	N	-0.110034208342864	0.36956	2.143225	-0.190355393707094	0.31890	1.809029	0.999999999999643	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	5.21	3.29	0.36801	0.266000	0.18300	2.057000	0.30374	0.586000	0.30580	0.227000	0.24611	0.986000	0.30841	0.581000	0.30918	0.0:0.3592:0.6407:0.0	11.735	0.51028	724	0.55085	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2087.11	77	chr11	34916677	.	G	T	2087.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.561;DP=1552;ExcessHet=0.1072;FS=1.929;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.57;ReadPosRankSum=0.218;SOR=0.852	GT:AD:DP:GQ:PL	0/0:70,0:70:99:0,120,1800	19	0	2	0
chr11	35206198	35206198	A	G	exonic	CD44	.	nonsynonymous SNV	CD44:NM_001001389:exon10:c.A1240G:p.I414V	.	.	428	1048	42	4	0	50	0.0232992	.	.	724415	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.2	T	0.0	B	0.002	B	0.087	N	0.951	D	0.455	N	2.84	T	-1.036	T	0.094	T	0.171	0.018	4.108	-3.36	-0.769	-0.909	10.890	0.018	.	0.0012	0.00419329	0.0051	9.612e-05	0.0025	0	0	0.0019	0.0132	0.0271	0.0043984	680	154602	rs140510483	0.0027	0.0027	0.0018	0.0035	0.0261	0.0026	0.0026	0.0252	0.0248	0.0003	0.0015	0.0031	5.056e-05	3.745e-05	0.0172	0.0011	0.0036	0.0261	0.0018	0.0018	0.0013	0.0023	0.0207	0.0016	0.0015	0.0175	0.0162	0.0002	0	0.0014	0.0040	0	0	0.0306	0.0017	0.0014	0.0207	0.212	0.19854	T	1.0	0.12211	T	0.0	0.02946	B	0.001	0.06944	B	0.086558	0.20581	N	0.455727	0.950778	0.37710	D	0.255	0.09829	N	2.84	0.20387	T	-0.42	0.14193	N	0.113	0.10769	-1.0358	0.18606	T	0.094	0.35604	T	10	0.0032230914	0.00055	T	.	.	.	0.028	0.06331	.	.	0.146414634003	0.14194	0.10272548602318497	0.10202	0.0387608282298	0.04121	0.248365327716	0.03598	T	0.24548	0.61479	T	-0.628595	0.00098	T	-0.656113	0.08531	T	0.00108250113076798	0.00010	T	0.714029	0.32905	T	0.032998156	0.03432	0.046259083	0.06409	0.032998156	0.03432	0.046259083	0.06409	-3.36	0.14523	T	.	.	0.073	0.06433	B	.;.;.;.	.;.;.;.	-0.171630	0.03238	0.545	0.5231850831793089	0.04725	0.06643	0.12660	N	AEFGBHCI	0.089151	0.18071	N	-1.09676346202009	0.06702	0.3092912	-1.20747916356194	0.05789	0.2768153	0.999463579887593	0.39843	0.614807	0.35715	0	0.577304	0.33150	0	0.602189	0.34648	0	0.645948	0.59608	0	.	.	4.76	-3.36	0.04606	-0.931000	0.04076	0.078000	0.14353	-0.635000	0.04468	0.175000	0.24000	0.001000	0.17328	0.002000	0.04165	0.445:0.0:0.555:0.0	10.890	0.46198	883	0.28872	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	768.98	39	chr11	35206198	.	A	G	768.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.77;DP=799;ExcessHet=0.0000;FS=0.785;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.69;ReadPosRankSum=1.27;SOR=0.835	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1247	20	0	1	0
chr11	35468075	35468075	G	A	exonic	PAMR1	.	nonsynonymous SNV	PAMR1:NM_001282676:exon4:c.C413T:p.T138M	.	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.395	M	-3.25	D	1.056	D	0.982	D	0.791	4.095	21.1	4.98	1.490	6.998	17.257	0.749	.	.	0.00119808	0.0010	0	0	0.0173	0	0.0003	0	0.0005	0.0003752	58	154602	rs138326425	0.0004	0.0004	0.0003	0.0004	0.0109	0.0004	0.0003	0.0100	0.0097	3.123e-05	2.765e-05	0	0.0109	4.033e-05	0	5.459e-05	0.0004	0.0006	0.0003	0.0003	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0033	0.0001	0	0	0	0.0054	0	0	0.0001	0	0.0012	0.147	0.24955	T	0.006	0.76473	D	1.0	0.90584	D	0.963	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.86	0.83026	M	-5.91	0.99439	D	-1.22	0.41428	N	0.751	0.76573	1.056	0.98259	D	0.982	0.99434	D	10	0.02669552	0.00830	T	.	.	.	0.749	0.91371	.	.	0.71657031348	0.71408	0.6441289273991889	0.64347	.	.	0.463455617428	0.33784	T	0.261532	0.75198	T	0.0388993	0.56901	T	0.284053	0.87340	D	0.113289618287916	0.13762	T	0.787421	0.42665	T	0.49880695	0.67025	0.2804709	0.54022	0.49880695	0.67026	0.2804709	0.54021	-9.655	0.73461	D	.	.	0.194	0.41495	B	.;.;.;.;.;.	.;.;.;.;.;.	4.447400	0.69110	25.3	0.9992544510219632	0.99042	0.99409	0.95660	D	AEFBI	0.874419	0.79729	D	0.688372642644586	0.78871	6.959516	0.634183957766603	0.77438	6.67939	0.999995925535539	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.9	4.98	0.65679	6.084000	0.70984	9.813000	0.81759	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.123000	0.19290	0.0:0.1255:0.8745:0.0	17.257	0.86945	750	0.51762	.;EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2917.98	37	chr11	35468075	.	G	A	2917.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.582;DP=939;ExcessHet=0.0000;FS=1.543;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.01;ReadPosRankSum=-7.480e-01;SOR=0.684	GT:AD:DP:GQ:PL	0/1:122,121:243:99:2932,0,2897	20	0	1	0
chr11	36462372	36462372	T	C	exonic	PRR5L	.	stoploss	PRR5L:NM_001160169:exon7:c.T616C:p.X206R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.231	B	0.183	B	0.001	D	0.647	N	.	.	-1.72	D	-0.973	T	0.082	T	0.091	3.014	16.05	4.09	0.801	1.496	2.949	0.171	.	.	0.000399361	0.0001	0.0001	0	0	0	0.0002	0	0	9.06e-05	14	154602	rs200786830	3.595e-05	3.694e-05	4.167e-05	2.998e-05	6.45e-05	2.752e-05	2.479e-05	3.05e-05	2.71e-05	3.278e-05	6.45e-05	0	0	0	0	4.048e-05	3.572e-05	1.411e-05	4.601e-05	4.594e-05	2.572e-05	6.722e-05	0.0002	2.11e-05	1.527e-05	5.285e-05	2.835e-05	0	0	0.0002	0	0	0	0	5.885e-05	0	0	0.828	0.02899	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.000999	0.40743	D	0.214558	1	0.30568	N	.	.	.	-1.72	0.83241	D	0.5	0.02945	N	0.033	0.00942	-0.9729	0.36583	T	0.082	0.32324	T	9	0.030539423	0.01181	T	.	.	.	0.171	0.43483	0.208	0.12497	0.661647421419	0.65881	0.28987701171747027	0.28900	0.329051736982	0.35014	0.390372544527	0.23723	T	0.002502	0.01894	T	-0.28693	0.09947	T	-0.401623	0.33196	T	0.037956174181755	0.03324	T	0.559044	0.19511	T	0.041982044	0.06285	0.03819325	0.03634	0.041982044	0.06284	0.03819325	0.03634	-2.899	0.09133	T	.	.	0.123	0.25817	B	.;.	.;.	2.274226	0.29073	18.00	0.78488407762633061	0.12322	0.46671	0.27812	N	AEFBI	0.105748	0.21121	N	0.0387001779400297	0.43625	2.651684	0.0766297161062671	0.43375	2.640628	0.99905087320658	0.38317	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.25	4.09	0.47038	1.502000	0.35312	4.230000	0.42646	0.665000	0.62972	0.852000	0.30477	1.000000	0.68203	0.624000	0.32000	0.1863:0.1948:0.0:0.6189	2.949	0.05496	889	0.27310	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	918.98	33	chr11	36462372	.	T	C	918.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.28;ReadPosRankSum=0.667;SOR=0.747	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,114,1710	20	0	1	0
chr11	36592939	36592939	C	G	exonic	RAG2	.	nonsynonymous SNV	RAG2:NM_000536:exon2:c.G1230C:p.E410D	Combined cellular and humoral immune defects with granulomas, Autosomal recessive;Omenn syndrome, Autosomal recessive;Severe combined immunodeficiency, B cell-negative, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.989	D	0.977	D	0.000	D	1.000	D	2.725	M	-4.39	D	0.981	D	0.932	D	0.635	2.778	15.25	-0.634	0.034	0.389	10.518	0.724	0.184111845529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	0.989	0.62824	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.997921	0.44325	D	3.045	0.86684	M	-4.39	0.97394	D	-1.34	0.33401	N	0.61	0.62696	0.981	0.96875	D	0.932	0.97744	D	10	0.74751085	0.75395	D	0.184112	0.85729	D	0.724	0.90280	0.655	0.79276	0.949606292796	0.94907	0.5783541702396763	0.57764	0.416349650705	0.42283	0.691780388355	0.65962	T	0.535211	0.83987	D	0.262356	0.79746	D	0.13908	0.79483	D	0.982266187667847	0.74389	D	0.935806	0.75965	D	0.4970505	0.66921	0.42633614	0.66414	0.4970505	0.66922	0.42633614	0.66414	-3.527	0.16812	T	0.4996836790850691	0.57511	0.344	0.59611	A	.;.	.;.	2.759110	0.36189	20.2	0.99754016305850435	0.84460	0.84979	0.44077	D	AEFBI	0.598256	0.59172	D	0.347464662238875	0.58605	4.033851	0.215856993075376	0.50725	3.261712	0.99959847292894	0.40745	0.497415	0.19182	0	0.59043	0.45803	0	0.408882	0.06424	0	0.530356	0.10902	0	.	.	5.23	-0.634	0.10937	0.385000	0.20413	-0.476000	0.08948	0.599000	0.40250	0.997000	0.40164	0.036000	0.21445	1.000000	0.97212	0.0:0.5159:0.0:0.4841	10.518	0.44088	374	0.84073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.08333	296.49	93	chr11	36592939	.	C	G	296.49	.	AC=2;AF=0.083;AN=24;BaseQRankSum=-4.408e+00;DP=2340;ExcessHet=0.1072;FS=326.387;InbreedingCoeff=-0.2035;MLEAC=3;MLEAF=0.125;MQ=60.00;MQRankSum=0.00;QD=1.17;ReadPosRankSum=1.37;SOR=8.764	GT:AD:DP:GQ:PL	0/1:74,24:111:99:223,0,1690	10	0	2	9
chr11	36633290	36633290	A	G	exonic	IFTAP	.	nonsynonymous SNV	IFTAP:NM_001276722:exon3:c.A143G:p.H48R	.	.	645	874	3	0	0	3	0.00171331	.	.	3263908	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.87	T	0.004	B	0.015	B	0.435	N	1.000	N	0.55	N	.	.	-1.038	T	0.060	T	0.162	-2.392	0.003	1.08	0.030	0.153	6.111	0.029	0.00326834558316	0.0003	.	0.0001	0	8.743e-05	0	0	0.0002	0	0	9.7e-05	15	154602	rs149036446	7.909e-05	8.277e-05	7.842e-05	7.978e-05	0.0024	6.708e-05	6.242e-05	0.0014	0.0011	0	5.872e-05	0	0	0	0.0024	8.323e-05	0.0001	1.414e-05	6.569e-05	6.561e-05	5.141e-05	8.062e-05	0.0003	3.516e-05	2.616e-05	0.0001	8.287e-05	0	0	0.0003	0	0	0	0.0034	5.886e-05	0	0	0.791	0.07521	T	0.161	0.33554	T	0.004	0.12183	B	0.015	0.17295	B	0.434894	0.04725	N	1.309280	1	0.08975	N	0.69	0.16971	N	.	.	.	-0.33	0.16393	N	0.076	0.05037	-1.0379	0.17954	T	0.060	0.25273	T	9	0.02184537	0.00532	T	0.003268	0.07237	T	0.029	0.06676	.	.	0.0551355673512	0.04727	0.03185164530673643	0.03134	0.0287149310921	0.02955	.	.	.	0.008348	0.09443	T	-0.404062	0.02177	T	-0.52804	0.19482	T	0.0159493494314518	0.00378	T	0.39886	0.10126	T	0.030755484	0.02793	0.03711948	0.03297	0.030755484	0.02793	0.03711948	0.03296	-3.328	0.14100	T	.	.	0.069	0.03964	B	.;.;.;.;.;.	.;.;.;.;.;.	0.655338	0.10239	6.975	0.16519934972868822	0.00446	0.08151	0.14116	N	AEFGI	0.096930	0.19560	N	-1.52316936560959	0.01698	0.07431992	-1.48264256762297	0.02486	0.1144412	0.997561271841824	0.35763	0.638212	0.43195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	5.1	1.08	0.19456	0.205000	0.17154	1.581000	0.27475	-0.553000	0.04888	0.000000	0.06391	0.000000	0.08366	0.088000	0.17685	0.5883:0.1385:0.0:0.2733	6.111	0.19321	393	0.83123	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	812.98	34	chr11	36633290	.	A	G	812.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.415e+00;DP=750;ExcessHet=0.0000;FS=2.062;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=0.371;SOR=0.982	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr11	36633360	36633360	T	A	exonic	IFTAP	.	nonsynonymous SNV	IFTAP:NM_001276722:exon3:c.T213A:p.H71Q	.	.	526	995	1	0	0	1	0.00050226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.037	B	0.022	B	0.073	N	1.000	N	1.01	L	.	.	-1.057	T	0.062	T	0.115	0.234	5.264	0.488	-0.020	-0.212	4.133	0.010	0.00446518183675	.	.	0.0001	0	0	0	0	7.532e-05	0	0.0006	9.06e-05	14	154602	rs780710713	0.0001	0.0001	9.724e-05	0.0001	0.0006	8.704e-05	8.189e-05	0.0004	0.0004	0	0	0	0	0	0	8.667e-05	4.994e-05	0.0006	1.973e-05	1.97e-05	1.285e-05	2.692e-05	0.0004	5.24e-06	2.46e-06	7.287e-05	3.028e-05	0	0	0	0	0	0	0	1.472e-05	0	0.0004	0.111	0.31383	T	0.265	0.28860	T	0.037	0.20876	B	0.022	0.19653	B	0.073202	0.21361	N	0.442270	1	0.08975	N	1.4	0.35362	L	.	.	.	-3.17	0.75139	D	0.084	0.06059	-1.0566	0.12621	T	0.062	0.25887	T	9	0.04030496	0.02587	T	0.004465	0.10937	T	0.010	0.01040	0.211	0.12923	0.0846915920261	0.08053	0.04490289534071646	0.04434	0.0286869584736	0.02951	.	.	.	0.021097	0.23766	T	-0.464513	0.00921	T	-0.577057	0.14809	T	0.023130853204488	0.01039	T	0.340966	0.07383	T	0.13800533	0.31933	0.12916215	0.31062	0.13800533	0.31933	0.12916215	0.31061	-2.743	0.07671	T	.	.	0.104	0.21049	B	.;.;.;.;.;.	.;.;.;.;.;.	0.226841	0.06087	2.529	0.68365196369490644	0.08636	0.03502	0.08676	N	AEFI	0.083642	0.16945	N	-0.930091649221179	0.10143	0.4833355	-0.968938645904128	0.10488	0.5284905	0.988640598311385	0.31583	0.693126	0.56070	0	0.670034	0.63936	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.29	0.488	0.16056	-0.105000	0.10876	-0.720000	0.07709	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.398000	0.26737	0.0:0.2045:0.1917:0.6038	4.133	0.09627	393	0.83123	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1262.98	34	chr11	36633360	.	T	A	1262.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.506;DP=772;ExcessHet=0.0000;FS=5.547;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.92;MQRankSum=0.00;QD=14.52;ReadPosRankSum=0.490;SOR=0.613	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr11	43391538	43391538	G	A	exonic	TTC17	.	nonsynonymous SNV	TTC17:NM_001376526:exon3:c.G403A:p.E135K	.	.	478	1043	1	0	0	1	0.000479157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.95	P	0.716	P	0.000	D	1.000	D	0.345	N	1.56	T	-1.104	T	0.078	T	0.408	4.690	26.0	5.42	2.704	9.568	19.582	0.182	0.00451317853317	.	.	4.945e-05	0	0	0	0	2.999e-05	0	0.0002	3.88e-05	6	154602	rs777268537	1.65e-05	1.779e-05	1.369e-05	1.935e-05	0.0001	1.116e-05	9.38e-06	7.24e-05	5.566e-05	0	2.373e-05	0	0	0	0	9.01e-06	3.329e-05	0.0001	6.591e-06	6.575e-06	1.288e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0032	0	0	0	0.128	0.26965	T	0.02	0.58613	D	0.745	0.43117	P	0.159	0.34693	B	0.000003	0.62929	D	0.135609	0.99997	0.53665	D	0.895	0.22405	L	1.56	0.30937	T	-1.48	0.36189	N	0.375	0.41656	-1.1037	0.03672	T	0.078	0.31163	T	10	0.17313498	0.32124	T	0.004513	0.11094	T	0.182	0.45420	0.409	0.44395	0.0934897674506	0.08844	0.5652015378499774	0.56447	0.261723685699	0.28725	0.678525388241	0.64058	T	0.028372	0.20569	T	-0.266329	0.12168	T	-0.340904	0.40242	T	0.178340971469879	0.19130	T	0.974003	0.90706	D	0.21807298	0.44306	0.23877035	0.49209	0.21807298	0.44306	0.23877035	0.49208	-3.769	0.20566	T	.	.	0.120	0.32945	B	.;.	.;.	4.543306	0.71428	25.7	0.99845760449840137	0.92576	0.99272	0.93765	D	AEFBI	0.905933	0.85807	D	0.351458311568091	0.58816	4.056313	0.491320809234906	0.67414	5.080765	0.999999999903993	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.42	5.42	0.78666	9.671000	0.97894	11.784000	0.96188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.582	0.95466	348	0.85549	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1277.98	35	chr11	43391538	.	G	A	1277.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.700e-01;DP=790;ExcessHet=0.0000;FS=0.742;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.53;ReadPosRankSum=-1.055e+00;SOR=0.774	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1055	20	0	1	0
chr11	43405811	43405811	T	G	exonic	TTC17	.	nonsynonymous SNV	TTC17:NM_001376528:exon8:c.T952G:p.Y318D	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.023	B	0.033	B	0.704	N	0.956	N	0	N	1.52	T	-1.057	T	0.035	T	0.706	1.693	11.62	4.44	2.152	1.718	2.575	0.171	0.00649168454515	.	0.000599042	0.0004	0	0.0002	0	0	1.499e-05	0	0.0025	0.000304	47	154602	rs563142674	0.0002	0.0002	8.44e-05	0.0002	0.0021	0.0001	0.0001	0.0019	0.0018	0	6.711e-05	0	2.519e-05	0	0.0002	2.608e-05	0.0001	0.0021	8.535e-05	8.53e-05	7.708e-05	9.4e-05	0.0017	4.953e-05	3.96e-05	0.0008	0.0006	4.813e-05	0	0	0	0	0	0	4.41e-05	0	0.0017	0.14	0.25664	T	0.195	0.28032	T	0.014	0.16867	B	0.009	0.14300	B	0.704192	0.10068	N	0.885448	0.955651	0.26326	N	0	0.06538	N	1.52	0.30669	T	-1.47	0.38924	N	0.585	0.60579	-1.0571	0.12491	T	0.035	0.15160	T	10	0.011218518	0.00246	T	0.006492	0.17100	T	0.171	0.43483	.	.	0.553543533689	0.55011	0.5912785752752148	0.59057	0.348739940958	0.36736	0.503828406334	0.39361	T	0.026308	0.19495	T	-0.3449	0.05056	T	-0.274059	0.47408	T	0.0431550096188641	0.04265	T	0.725427	0.33942	T	0.09636776	0.22696	0.09722642	0.23132	0.09636776	0.22696	0.09722642	0.23132	-1.674	0.02162	T	.	.	0.069	0.03162	B	.;.	.;.	3.027262	0.40536	21.2	0.97784759016082856	0.35957	0.86718	0.46059	D	AEFBI	0.117505	0.23016	N	-0.254675922537552	0.30918	1.728511	-0.0272734557563845	0.38486	2.268242	0.0196231410134872	0.13180	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.64	4.44	0.53164	1.271000	0.32700	4.174000	0.42293	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1299:0.0818:0.2453:0.543	2.575	0.04513	349	0.85513	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1493.98	40	chr11	43405811	.	T	G	1493.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=799;ExcessHet=0.0000;FS=1.918;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.58;ReadPosRankSum=0.299;SOR=1.015	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr11	43798364	43798364	G	T	exonic	HSD17B12	.	nonsynonymous SNV	HSD17B12:NM_016142:exon4:c.G328T:p.A110S,	.	.	.	.	.	.	.	.	.	.	.	2222041	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.96	T	0.001	B	0.006	B	0.331	N	0.995	N	-0.475	N	0.82	T	-0.624	T	0.344	T	0.112	-2.193	0.005	-4.49	-1.968	-0.351	7.003	0.192	0.0587749261476	.	.	1.651e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs374709974	1.781e-05	1.779e-05	1.09e-05	2.478e-05	0.0002	1.239e-05	1.053e-05	4.088e-05	2.665e-05	0.0001	4.482e-05	0	0	0	0.0002	7.201e-06	6.631e-05	8.126e-05	1.315e-05	1.314e-05	0	2.691e-05	6.546e-05	2.18e-06	8.2e-07	.	.	0	0	6.546e-05	0	0	0	0	0	0.0005	0	1.0	0.04289	T	1.0	0.04029	T	0.001	0.07471	B	0.006	0.12133	B	0.331414	0.14108	N	0.701358	1	0.08975	N	0.08	0.08321	N	0.82	0.92457	T	1.17	0.01664	N	0.203	0.22486	-0.6238	0.63831	T	0.344	0.70916	T	10	0.02707839	0.00860	T	0.058775	0.67435	D	0.192	0.47115	.	.	0.349429436713	0.34558	0.5575696856345499	0.55683	0.238141893923	0.26361	0.233509257436	0.02238	T	0.174216	0.52336	T	-0.260539	0.12836	T	-0.375354	0.36265	T	0.00410560648896651	0.00044	T	0.766023	0.39401	T	0.017317273	0.00263	0.029979907	0.01398	0.017317273	0.00263	0.029979907	0.01398	-2.659	0.06965	T	.	.	0.082	0.10304	B	.;.;.	.;.;.	-1.444638	0.00330	0.006	0.2467333010467983	0.01102	0.04305	0.09854	N	AEFDBI	0.093515	0.18919	N	-2.06590474048733	0.00152	0.006510806	-2.05001706348108	0.00239	0.01053993	0.987685375625619	0.31320	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.09	-4.49	0.03257	-0.582000	0.05907	-1.851000	0.04612	-2.178000	0.00363	0.016000	0.19238	0.000000	0.08366	0.024000	0.12247	0.4818:0.0:0.3739:0.1443	7.003	0.24000	692	0.58729	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1391.98	33	chr11	43798364	.	G	T	1391.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.410e-01;DP=804;ExcessHet=0.0000;FS=0.668;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=-2.618e+00;SOR=0.670	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1172	20	0	1	0
chr11	44048169	44048169	G	A	exonic	ACCSL	.	nonsynonymous SNV	ACCSL:NM_001031854:exon1:c.G133A:p.V45M,	.	.	423	1060	38	1	0	40	0.0185185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.066	B	0.002	B	0.003	N	1.000	N	0.205	N	-0.39	T	-1.057	T	0.023	T	0.093	0.848	8.430	-7.65	-1.945	-1.410	4.424	0.031	.	0.0017	0.0135783	0.0073	0.0003	0.0018	0.0314	0.0009	0.0025	0.0100	0.0243	0.0068046	1052	154602	rs11037840	0.0046	0.0046	0.0040	0.0052	0.0410	0.0045	0.0044	0.0393	0.0387	0.0002	0.0025	0.0034	0.0410	0.0018	0.0090	0.0021	0.0053	0.0236	0.0039	0.0039	0.0033	0.0046	0.0308	0.0036	0.0035	0.0269	0.0254	0.0004	0	0.0054	0.0035	0.0308	0.0013	0.0238	0.0026	0.0057	0.0234	0.222	0.18823	T	0.16	0.31427	T	0.066	0.23586	B	0.002	0.06944	B	0.002618	0.00901	N	2.970870	1	0.08975	N	0.69	0.16971	N	-0.39	0.69158	T	0.07	0.06138	N	0.047	0.01911	-1.0569	0.12543	T	0.023	0.09923	T	10	0.0025751293	0.00039	T	.	.	.	0.031	0.07369	.	.	0.0716867268079	0.06686	0.04342049856487919	0.04287	0.120582729042	0.13580	0.214530110359	0.01018	T	0.013261	0.11507	T	-0.602051	0.00142	T	-0.598852	0.12908	T	0.00030383192103696	0.00002	T	0.428957	0.11607	T	0.025415495	0.01476	0.04326167	0.05342	0.025415495	0.01476	0.04326167	0.05342	-4.368	0.29120	T	.	.	0.077	0.06433	B	.	.	-0.572966	0.01647	0.115	0.74320099359045411	0.10652	0.01112	0.04066	N	AEFDBCIJ	0.021505	0.00964	N	-1.61143685733911	0.01208	0.05254454	-1.73102905702715	0.01006	0.04512588	0.999315611491373	0.39113	0.549168	0.22868	0	0.627178	0.54094	0	0.597571	0.31856	0	0.530356	0.10902	0	.	.	3.83	-7.65	0.01142	-1.985000	0.01575	-4.734000	0.02010	-0.206000	0.08541	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1387:0.3537:0.4062:0.1014	4.424	0.10920	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2567.98	35	chr11	44048169	.	G	A	2567.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=907;ExcessHet=0.0000;FS=0.544;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=-2.330e-01;SOR=0.629	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1245	20	0	1	0
chr11	44078700	44078700	G	A	exonic	ACCS	.	nonsynonymous SNV	ACCS:NM_001127219:exon9:c.G749A:p.G250D	.	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.981	D	0.872	P	0.000	D	1.000	D	3.665	H	-2.8	D	0.924	D	0.866	D	0.843	3.963	20.3	5.04	1.497	2.785	11.234	0.845	0.18448473897	.	0.000199681	0.0002	0	0.0003	0	0	5.999e-05	0.0011	0.0007	0.0001358	21	154602	rs567808580	0.0001	0.0001	6.398e-05	0.0002	0.0012	9.603e-05	9.083e-05	0.0010	0.0009	2.987e-05	0	0	0	0	0	4.676e-05	9.936e-05	0.0012	6.571e-05	6.562e-05	1.286e-05	0.0001	0.0017	3.517e-05	2.616e-05	0.0008	0.0006	0	0	0	0	0	0	0	2.941e-05	0	0.0017	0.021	0.49117	D	0.004	0.74150	D	0.981	0.59675	D	0.872	0.61918	P	0.000014	0.62929	D	0.110971	0.99988	0.50402	D	3.73	0.94857	H	-2.8	0.91076	D	-5.72	0.87531	D	0.853	0.84922	0.924	0.96017	D	0.866	0.95533	D	10	0.79813284	0.79256	D	0.184485	0.85752	D	0.845	0.95175	0.786	0.90919	0.867611819263	0.86632	0.8061722354847994	0.80572	0.545405473843	0.51576	0.602244257927	0.53221	T	0.524244	0.83419	D	0.0721506	0.61109	D	0.274515	0.86824	D	0.837296485900879	0.49108	D	0.752925	0.37500	T	0.81164867	0.84662	0.80856603	0.88809	0.81164867	0.84664	0.80856603	0.88810	-14.761	0.95267	D	.	.	0.960	0.87996	P	.	.	4.588315	0.72552	25.8	0.9970019381013161	0.80591	0.89587	0.50147	D	AEFBI	0.574403	0.57720	D	0.584989672655147	0.72237	5.774251	0.520257412842173	0.69355	5.348463	0.0043280523651247	0.10502	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.59522	0.37078	0	.	.	5.96	5.04	0.67293	2.687000	0.46643	9.706000	0.81318	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.983000	0.59808	0.0:0.1376:0.7196:0.1428	11.234	0.48157	849	0.35778	Aminotransferase, class I/classII	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1067.98	33	chr11	44078700	.	G	A	1067.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.000e-01;DP=786;ExcessHet=0.0000;FS=0.843;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=0.817;SOR=0.885	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1466	20	0	1	0
chr11	44081248	44081248	G	C	exonic	ACCS	.	nonsynonymous SNV	ACCS:NM_001127219:exon12:c.G1039C:p.A347P	.	.	422	1094	5	1	0	7	0.00318907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.997	D	0.953	D	0.000	N	1.000	D	2.275	M	-2.81	D	0.385	D	0.770	D	0.503	2.945	15.82	2.32	0.598	5.232	7.093	0.557	0.0769659298694	0.0007	0.00119808	0.0007	0.0003	0.0006	0	0	0.0009	0.0011	0.0007	0.000705	109	154602	rs148926432	0.0005	0.0005	0.0005	0.0006	0.0109	0.0005	0.0005	0.0088	0.0080	0.0001	0.0008	0.0003	0	0.0001	0.0109	0.0005	0.0010	0.0006	0.0006	0.0006	0.0005	0.0006	0.0010	0.0005	0.0004	0.0007	0.0006	7.212e-05	0	0.0010	0.0009	0	0.0002	0.0068	0.0008	0.0009	0.0004	0.076	0.34269	T	0.128	0.34959	T	0.997	0.70673	D	0.953	0.69275	D	0.000122	0.49741	N	0.173983	0.999544	0.47497	D	2.825	0.82220	M	-2.81	0.91134	D	-2.6	0.55983	D	0.771	0.76853	0.385	0.88870	D	0.770	0.92167	D	10	0.29053783	0.46634	T	0.076966	0.72659	D	0.557	0.81774	.	.	0.842338102691	0.84082	0.7800127921893336	0.77952	0.518512368855	0.49704	0.478349506855	0.35829	T	0.487798	0.81371	T	-0.156722	0.27265	T	-0.0483372	0.67135	D	0.20066425204277	0.20452	T	0.813919	0.46746	T	0.7168837	0.78988	0.8281866	0.90067	0.7168837	0.78990	0.8281866	0.90067	-14.006	0.93075	D	.	.	0.801	0.77329	P	.	.	4.485518	0.70018	25.5	0.99594554742629737	0.73807	0.96630	0.70109	D	AEFBI	0.857320	0.77466	D	0.37340504355911	0.59985	4.18277	0.26701638863367	0.53624	3.530401	0.00390998423309265	0.10332	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.59522	0.37078	0	.	.	5.31	2.32	0.27895	5.107000	0.64439	5.004000	0.46618	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0697:0.1238:0.6783:0.1282	7.093	0.24472	850	0.35610	Aminotransferase, class I/classII	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1222.98	43	chr11	44081248	.	G	C	1222.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.582e+00;DP=811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.29;ReadPosRankSum=1.13;SOR=0.770	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1302	20	0	1	0
chr11	45212535	45212535	C	T	exonic	PRDM11	.	nonsynonymous SNV	PRDM11:NM_001384649:exon7:c.C1043T:p.P348L	.	.	355	1165	2	0	0	2	0.000857633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0.0154	0	0	0	0	1.29e-05	2	154602	rs769359086	3.957e-05	2.545e-05	2.298e-05	5.211e-05	0.0007	2.208e-05	1.764e-05	0.0003	0.0002	0	7.353e-05	0	0.0007	0	0	1.26e-05	0	3.356e-05	6.572e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	652.98	38	chr11	45212535	.	C	T	652.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.925;DP=746;ExcessHet=0.0000;FS=1.268;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.55;ReadPosRankSum=1.58;SOR=0.480	GT:AD:DP:GQ:PL	0/1:17,25:42:99:667,0,388	20	0	1	0
chr11	45227698	45227698	G	T	exonic	PRDM11	.	nonsynonymous SNV	PRDM11:NM_001256695:exon8:c.G3073T:p.D1025Y	.	.	519	999	4	0	0	4	0.001998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0020	0	0.0106	0	0	0	0	0.0030	0.0001811	28	154602	rs529964583	0.0002	0.0002	9.287e-05	0.0002	0.0027	0.0001	0.0001	0.0024	0.0023	0	0	0	2.798e-05	0	0.0002	5.562e-06	0.0001	0.0027	4.595e-05	4.593e-05	1.284e-05	8.056e-05	0.0015	2.107e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	.	.	.	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	0.34120	.	.	.	.	.	.	.	0.0049298406	0.00106	T	.	.	.	.	.	.	.	0.043077524339	0.03247	0.5971764889992983	0.59648	.	.	0.532500743866	0.43387	T	0.029818	0.21277	T	-0.241431	0.15166	T	-0.124502	0.61430	T	.	.	.	0.944206	0.78893	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.47492	B	.	.	4.017301	0.59304	24.1	0.86124804256850196	0.16329	0.98999	0.89757	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999999999972694	0.74766	0.162113	0.03585	0	0.063388	0.01293	0	0.175069	0.04249	0	0.117559	0.03655	0	0.983155	0.89785	5.73	5.73	0.89730	9.305000	0.95277	11.820000	0.97208	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.0:0.0:1.0:0.0	19.898	0.96972	628	0.65206	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1833.98	84	chr11	45227698	.	G	T	1833.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.374e+00;DP=2033;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.33;ReadPosRankSum=0.115;SOR=0.682	GT:AD:DP:GQ:PL	0/0:107,0:107:99:0,120,1800	20	0	1	0
chr11	45227717	45227717	T	C	exonic	PRDM11	.	nonsynonymous SNV	PRDM11:NM_001256695:exon8:c.T3092C:p.L1031P	.	.	519	1002	0	1	0	2	0.000997009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.104e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs775344380	2.895e-06	2.736e-06	1.429e-06	4.4e-06	3.791e-05	6.8e-07	4.6e-07	1.007e-05	4.79e-06	0	0	0	0	0	0	0	1.733e-05	3.791e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	0.52386	.	.	.	.	.	.	.	0.16674724	0.31130	T	.	.	.	.	.	.	.	0.043077524339	0.03247	0.667456522709689	0.66683	.	.	0.494609683752	0.38079	T	0.012106	0.10698	T	-0.241804	0.15119	T	-0.38814	0.34769	T	.	.	.	0.90311	0.66064	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.18787	B	.	.	2.351249	0.30146	18.35	0.78940892142777819	0.12520	0.74250	0.36320	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.721879630192195	0.22942	0.162113	0.03585	0	0.063388	0.01293	0	0.175069	0.04249	0	0.117559	0.03655	0	0.373602	0.36917	5.73	3.37	0.37692	2.168000	0.42051	2.348000	0.32296	0.609000	0.47794	0.997000	0.40164	1.000000	0.68203	0.977000	0.56843	0.0:0.2144:0.0:0.7856	8.364	0.31533	628	0.65206	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1442.98	84	chr11	45227717	.	T	C	1442.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.006e+00;DP=2048;ExcessHet=0.0000;FS=0.696;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=0.560;SOR=0.600	GT:AD:DP:GQ:PL	0/0:107,0:107:99:0,120,1800	20	0	1	0
chr11	45810988	45810988	G	A	exonic	SLC35C1	.	nonsynonymous SNV	SLC35C1:NM_018389:exon2:c.G748A:p.G250R	Congenital disorder of glycosylation, type IIc, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	326743	Inborn_genetic_diseases|Leukocyte_adhesion_deficiency_type_II	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009953,MedGen:C0398739,OMIM:266265,Orphanet:2968,Orphanet:99843	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.999	D	0.984	D	0.000	D	1.000	D	2.39	M	-0.34	T	-0.069	T	0.480	T	0.853	4.516	24.3	5.99	2.840	7.743	14.602	0.559	0.0763684170877	0.0004	0.000399361	0.0002	0.0016	8.654e-05	0	0	7.527e-05	0	0	0.0001617	25	154602	rs148606857	8.765e-05	8.824e-05	9.13e-05	8.395e-05	0.0023	7.495e-05	7.042e-05	0.0019	0.0017	0.0023	0.0001	0	0	0	0	2.698e-05	0.0002	2.319e-05	0.0007	0.0007	0.0008	0.0006	0.0022	0.0006	0.0005	0.0018	0.0017	0.0022	0	0.0003	0	0	0	0	4.41e-05	0.0014	0	0.002	0.72154	D	0.003	0.76473	D	0.999	0.77913	D	0.984	0.76113	D	0.000000	0.84330	D	0.091863	1	0.81001	D	3.435	0.92070	M	-0.34	0.68474	T	-6.57	0.91912	D	0.823	0.81857	-0.0694	0.80794	T	0.480	0.80139	T	10	0.28722352	0.46305	T	0.076368	0.72515	D	0.559	0.81888	0.599	0.72984	0.952526322933	0.95202	0.8765420563398909	0.87621	1.51269319405	0.87272	0.617652177811	0.55397	T	0.60728	0.87501	D	-0.00377941	0.51133	T	0.216868	0.84015	D	0.312053824346929	0.25498	T	0.889011	0.61998	D	0.7597197	0.81436	0.71722263	0.83308	0.7597197	0.81438	0.71722263	0.83309	-10.976	0.80845	D	0.5693892281869314	0.63665	0.319	0.54419	B	.;.	.;.	4.649721	0.74108	26.1	0.99920526110975472	0.98721	0.95821	0.66297	D	AEFDGBCI	0.934290	0.92744	D	0.90082606568022	0.91799	11.07117	0.890111989317866	0.95127	13.33549	0.999999999255453	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.99	5.99	0.97299	7.865000	0.85466	9.845000	0.81950	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.173000	0.21076	0.069:0.0:0.931:0.0	14.602	0.68048	549	0.72275	.;Sugar phosphate transporter domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2810.98	38	chr11	45810988	.	G	A	2810.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.10;DP=895;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.64;ReadPosRankSum=0.189;SOR=0.727	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr11	45903154	45903154	G	A	exonic	MAPK8IP1	.	nonsynonymous SNV	MAPK8IP1:NM_005456:exon5:c.G1387A:p.V463I,	.	.	403	1116	3	0	0	3	0.00134228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.947	P	0.362	B	0.000	D	1.000	D	1.83	L	0.97	T	-0.891	T	0.121	T	0.322	3.048	16.17	4.48	2.332	4.484	17.335	0.087	0.0238716936176	0.0002	0.000199681	0.0002	0.0002	0.0002	0	0.0002	0.0003	0	0.0003	0.0001876	29	154602	rs201654835	0.0001	0.0001	0.0001	0.0001	0.0007	9.803e-05	9.277e-05	0.0003	0.0003	0	0.0004	0	0	3.922e-05	0.0007	8.489e-05	0.0001	0.0004	0.0001	0.0001	0.0002	0.0001	0.0006	9.74e-05	8.255e-05	0.0003	0.0002	2.406e-05	0	0.0006	0	0	0	0	0.0001	0	0.0004	0.113	0.28772	T	0.091	0.41074	T	0.947	0.53479	P	0.362	0.43260	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.65	0.77586	M	0.95	0.43279	T	-0.51	0.15986	N	0.592	0.61172	-0.8907	0.48873	T	0.121	0.42122	T	10	0.18819338	0.34364	T	0.023872	0.46847	T	0.087	0.25287	.	.	0.483898778967	0.48023	0.2689587552835672	0.26808	0.398042137382	0.40875	0.763436734676	0.76441	T	0.458588	0.79651	T	-0.310006	0.07747	T	-0.377102	0.36061	T	0.0524237240873991	0.05920	T	0.876912	0.58964	D	0.16282658	0.36385	0.13142736	0.31558	0.16282658	0.36385	0.13142736	0.31558	-7.593	0.58262	D	.	.	0.164	0.36214	B	.;.	.;.	3.863496	0.56045	23.7	0.99634245549321998	0.76264	0.72708	0.35579	D	AEFDGBCI	0.471670	0.51711	N	0.402867535844866	0.61581	4.361038	0.424490584255321	0.63093	4.536558	0.999991394628772	0.74766	0.695654	0.57023	0	0.550933	0.16991	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.48	4.48	0.53973	6.682000	0.74361	11.755000	0.95496	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.335	0.87166	459	0.78817	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2055.98	33	chr11	45903154	.	G	A	2055.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.66;DP=851;ExcessHet=0.0000;FS=6.141;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.18;ReadPosRankSum=0.285;SOR=1.172	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1102	20	0	1	0
chr11	45934054	45934054	C	T	exonic	PHF21A	.	nonsynonymous SNV	PHF21A:NM_001101802:exon18:c.G1957A:p.A653T	.	YES	417	1100	5	0	0	5	0.00226757	.	.	3137066	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.25	T	0.001	B	0.005	B	0.000	D	0.971	D	-0.55	N	-3.27	D	-0.206	T	0.533	D	0.262	1.666	11.53	4.37	1.359	1.597	10.105	0.287	0.0308067611505	.	.	0.0002	0	0	0	0	1.515e-05	0	0.0014	0.0001488	23	154602	rs142948382	0.0001	0.0001	5.311e-05	0.0001	0.0016	8.716e-05	8.203e-05	0.0013	0.0013	0	0	0	0	1.873e-05	0	1.799e-06	0.0002	0.0016	4.598e-05	4.594e-05	0	9.405e-05	0.0012	2.109e-05	1.526e-05	0.0005	0.0004	0	0	0	0	0	0	0	1.47e-05	0	0.0012	0.113	0.28772	T	0.639	0.08900	T	0.001	0.07471	B	0.005	0.11217	B	0.000055	0.53742	D	0.118422	0.914167	0.38825	D	0	0.06538	N	-3.62	0.95077	D	-0.59	0.18877	N	0.11	0.17553	-0.2059	0.77519	T	0.533	0.82699	D	10	0.02818793	0.00954	T	0.030807	0.53037	D	0.287	0.60574	0.109	0.01988	0.472160230155	0.46843	0.4406059965749234	0.43977	0.107616531999	0.12144	0.351581931114	0.18154	T	0.059223	0.31057	T	-0.226699	0.17087	T	-0.143966	0.59772	T	0.0396359958861064	0.03624	T	0.805819	0.54290	T	0.091583446	0.21462	0.08640395	0.20016	0.10734878	0.25383	0.090616025	0.21258	-3.53	0.17110	T	0.14058686052569602	0.15745	0.063	0.05404	B	.;.;.	.;.;.	2.575562	0.33383	19.32	0.98034374469494745	0.37735	0.92972	0.57003	D	AEFDBI	0.244420	0.36553	N	-0.396124313537815	0.25606	1.391291	-0.159756804516202	0.33034	1.88548	0.999997761469134	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.3	4.37	0.51830	1.357000	0.33694	0.815000	0.21791	0.599000	0.40250	1.000000	0.71638	0.971000	0.29754	0.998000	0.85391	0.0:0.7798:0.1398:0.0804	10.105	0.41701	330	0.86467	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	696.98	34	chr11	45934054	.	C	T	696.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.550e-01;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.30;ReadPosRankSum=-2.140e-01;SOR=0.627	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1303	20	0	1	0
chr11	45971283	45971283	C	G	exonic	PHF21A	.	nonsynonymous SNV	PHF21A:NM_001101802:exon7:c.G445C:p.V149L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.782	P	0.255	B	0.000	D	1.000	D	1.7	L	-3.37	D	0.524	D	0.782	D	0.649	4.687	25.9	5.79	2.746	3.957	20.031	0.454	0.0775601202395	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.672	0.06511	T	0.782	0.44333	P	0.255	0.39216	B	0.000000	0.84330	D	0.053910	0.999964	0.52935	D	1.995	0.54099	M	-3.86	0.95891	D	-0.69	0.19720	N	0.551	0.58031	0.524	0.90886	D	0.782	0.92582	D	10	0.43233973	0.57572	T	0.07756	0.72799	D	0.454	0.75347	0.202	0.11659	0.821397785811	0.81971	0.599171980748204	0.59848	0.953944116994	0.72743	0.801040589809	0.82121	T	0.088279	0.38124	T	0.258844	0.79421	D	0.134035	0.79155	D	0.642412309140843	0.38139	D	0.973903	0.90628	D	0.24376908	0.47318	0.29754263	0.55787	0.24376908	0.47318	0.29754263	0.55786	-7.504	0.57638	D	0.23226634951649536	0.31436	0.197	0.41903	B	.;.	.;.	4.929401	0.81258	27.5	0.99745650985518786	0.83852	0.95941	0.66818	D	AEFDGBI	0.522502	0.54649	D	0.264576081778261	0.54364	3.602125	0.382443559752812	0.60484	4.236358	0.999999816746384	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.79	5.79	0.91751	4.055000	0.57153	7.715000	0.67011	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.031	0.97539	175	0.93230	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1688.98	34	chr11	45971283	.	C	G	1688.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.961e+00;DP=836;ExcessHet=0.0000;FS=2.495;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.69;ReadPosRankSum=0.175;SOR=0.471	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr11	46307885	46307885	C	G	exonic	CREB3L1	.	nonsynonymous SNV	CREB3L1:NM_052854:exon3:c.C401G:p.P134R,	.	.	390	1128	4	0	0	4	0.00176991	.	.	1362048	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.26	T	0.929	P	0.692	P	0.005	N	0.864	N	1.1	L	0.86	T	-1.009	T	0.114	T	0.294	3.729	18.94	1.3	0.548	0.984	5.253	0.073	0.00874951949956	.	.	7.272e-05	0	0	0	0	0.0002	0	0	4.53e-05	7	154602	rs774972826	3.293e-05	3.557e-05	2.915e-05	3.679e-05	0.0018	2.538e-05	2.274e-05	0.0010	0.0007	0	7.47e-05	0	0	0	0.0018	2.283e-05	0.0002	0	7.226e-05	7.219e-05	8.998e-05	5.373e-05	8.822e-05	3.97e-05	3.126e-05	3.763e-05	2.576e-05	0	0	0	0	0	0	0.0136	8.822e-05	0.0005	0	0.051	0.39334	T	0.446	0.49120	T	0.929	0.51690	P	0.692	0.53862	P	0.004953	0.33236	N	0.196007	0.86429	0.28307	N	1.955	0.52871	M	0.86	0.46777	T	-2.13	0.48354	N	0.315	0.35514	-1.0092	0.27167	T	0.114	0.40605	T	10	0.19225132	0.34946	T	0.00875	0.23099	T	0.073	0.21317	.	.	0.574600906166	0.57128	0.28553723545877224	0.28466	.	.	0.387070417404	0.23256	T	0.112688	0.42916	T	-0.253369	0.13687	T	-0.454395	0.27213	T	0.554850399494171	0.34660	D	0.689931	0.33447	T	0.06466032	0.13740	0.045214232	0.06035	0.06466032	0.13740	0.045214232	0.06035	-6.451	0.49907	T	.	.	0.102	0.18080	B	.;.	.;.	2.418270	0.31091	18.64	0.99712615651783043	0.81423	0.92200	0.55168	D	AEFDBHI	0.428524	0.49202	N	0.0781819544560718	0.45445	2.801014	0.0614239926235139	0.42628	2.581648	0.998978483070414	0.38110	0.741868	0.97996	0	0.633656	0.55848	0	0.774882	0.98623	0	0.604944	0.38103	0	.	.	4.79	1.3	0.20778	0.989000	0.29229	0.552000	0.19430	-0.171000	0.11205	0.996000	0.39380	0.048000	0.21764	0.967000	0.53440	0.0:0.4829:0.0:0.5171	5.253	0.14847	167	0.93508	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	312.98	38	chr11	46307885	.	C	G	312.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.253;DP=773;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=-2.500e-01;SOR=0.722	GT:AD:DP:GQ:PL	0/0:33,0:33:29:0,29,952	20	0	1	0
chr11	46347720	46347720	-	CGTCCAGCGGCTC	exonic	DGKZ	.	frameshift insertion	DGKZ:NM_001199266:exon1:c.61_62insCGTCCAGCGGCTC:p.E26Vfs*133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	57.94	23	chr11	46347720	.	T	TCGTCCAGCGGCTC	57.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.020e-01;DP=531;ExcessHet=0.0000;FS=2.750;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.60;MQRankSum=-4.389e+00;QD=2.76;ReadPosRankSum=2.27;SOR=0.932	GT:AD:DP:GQ:PL	0/0:19,0:19:57:0,57,600	20	0	1	0
chr11	46494176	46494176	C	T	exonic	AMBRA1	.	nonsynonymous SNV	AMBRA1:NM_001300731:exon9:c.G2188A:p.A730T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.049	B	0.013	B	0.000	D	0.998	N	0	N	-2.68	D	-0.732	T	0.422	T	0.441	2.718	15.05	5.03	2.522	4.333	12.220	0.281	0.0287827954821	.	0.000599042	0.0006	0	0	0	0	0	0	0.0037	0.0003234	50	154602	rs537702870	0.0002	0.0002	0.0001	0.0002	0.0027	0.0002	0.0001	0.0024	0.0023	0	0	0	0	0	0	1.805e-06	0.0002	0.0027	0.0001	0.0001	5.142e-05	0.0002	0.0035	7.574e-05	6.28e-05	0.0022	0.0018	2.407e-05	0	0	0	0	0	0	0	0	0.0035	0.37	0.17761	T	0.965	0.04129	T	0.007	0.14184	B	0.005	0.11217	B	0.000021	0.55875	D	0.161401	0.99794	0.44345	D	-0.345	0.03330	N	-2.68	0.90391	D	0.08	0.09460	N	0.375	0.41754	-0.7319	0.58867	T	0.422	0.76710	T	10	0.009637982	0.00217	T	0.028783	0.51409	D	0.281	0.59861	0.203	0.11797	0.543795930759	0.54033	0.32616573941242244	0.32529	1.15506956845	0.79341	0.703337430954	0.67627	T	0.006934	0.36144	T	-0.254124	0.13598	T	-0.142735	0.59880	T	0.0547562607819256	0.06316	T	0.956004	0.83260	D	0.08168865	0.18782	0.0863331	0.19995	0.08168865	0.18782	0.0863331	0.19994	-3.383	0.15821	T	.	.	0.079	0.19559	B	.;.;.;.;.	.;.;.;.;.	3.330002	0.45838	22.2	0.99474128079027835	0.66525	0.83240	0.42373	D	AEFBI	0.234858	0.35755	N	-0.244678030299723	0.31315	1.754749	-0.00185075785761053	0.39633	2.352841	0.999998808294533	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.03	5.03	0.67015	4.193000	0.58183	7.650000	0.63651	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9217:0.0:0.0783	12.220	0.53743	0	0.99858	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	721.98	34	chr11	46494176	.	C	T	721.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=789;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.20;ReadPosRankSum=-1.550e-01;SOR=0.722	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1099	20	0	1	0
chr11	46542503	46542503	C	T	exonic	AMBRA1	.	nonsynonymous SNV	AMBRA1:NM_001300731:exon7:c.G1514A:p.R505H	.	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	N	1.000	D	0.975	L	-1.17	T	0.401	D	0.643	D	0.829	3.018	16.07	5.12	1.561	4.347	15.112	0.555	0.0716514688568	0.0008	0.00119808	0.0016	0.0003	0.0008	0	0	0.0018	0	0.0036	0.0015524	240	154602	rs145466300	0.0018	0.0018	0.0018	0.0019	0.0029	0.0018	0.0018	0.0026	0.0025	0.0002	0.0008	0.0010	0	0.0002	0.0026	0.0020	0.0013	0.0029	0.0013	0.0013	0.0011	0.0015	0.0022	0.0012	0.0011	0.0016	0.0015	0.0004	0.0022	0.0022	0.0020	0	0.0002	0.0034	0.0018	0.0024	0.0021	0.02	0.51248	D	0.01	0.92824	D	0.999	0.90584	D	0.994	0.84481	D	0.000000	0.84330	N	0.045007	0.999999	0.58761	D	2.125	0.59049	M	-1.35	0.84628	T	-2.56	0.58085	D	0.214	0.36464	0.401	0.89118	D	0.643	0.87540	D	10	0.010827363	0.00239	T	0.071651	0.71325	D	0.555	0.81659	.	.	0.720014306721	0.71754	0.778905463308139	0.77841	0.668936963184	0.59319	0.551707088947	0.46099	T	0.042996	0.69606	T	-0.0502195	0.44416	T	0.152981	0.80373	D	0.112571686506271	0.13689	T	0.939406	0.78488	D	0.2499321	0.47991	0.17590964	0.40089	0.2499321	0.47991	0.17590964	0.40088	-5.563	0.43390	T	.	.	0.362	0.60799	A	.;.;.;.;.	.;.;.;.;.	4.345615	0.66707	25.0	0.99735991279712277	0.83119	0.95819	0.66288	D	AEFDBCI	0.651400	0.62517	D	0.460384717713375	0.64795	4.742228	0.510565998122285	0.68701	5.256387	0.999999979098334	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.03	5.12	0.69459	4.420000	0.59592	6.029000	0.52897	-0.189000	0.09497	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9327:0.0:0.0673	15.112	0.72036	0	0.99858	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3344.98	33	chr11	46542503	.	C	T	3344.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.12;DP=1011;ExcessHet=0.0000;FS=3.834;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.00;ReadPosRankSum=-2.980e-01;SOR=0.921	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1161	20	0	1	0
chr11	46542742	46542742	A	C	exonic	AMBRA1	.	nonsynonymous SNV	AMBRA1:NM_001300731:exon7:c.T1275G:p.S425R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.741	P	0.372	B	0.000	D	0.959	D	0.805	L	-0.46	T	-0.566	T	0.232	T	0.56	1.908	12.34	3.57	1.052	1.368	8.645	0.284	0.0563279908048	.	.	4.119e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs752251418	1.505e-05	1.505e-05	1.089e-05	1.925e-05	0.0002	9.85e-06	8.41e-06	0.0001	0.0001	0	0	0	0	0	0	2.698e-06	1.656e-05	0.0002	6.594e-06	6.573e-06	0	1.351e-05	1.473e-05	0	0	.	.	0	0	0	0	0	0	0	1.473e-05	0	0	0.001	0.78490	D	0.005	0.74150	D	0.235	0.41009	B	0.193	0.39516	B	0.000000	0.84330	D	0.117135	0.95926	0.38118	D	1.975	0.53506	M	-0.67	0.75911	T	-1.85	0.43334	N	0.362	0.45615	-0.5661	0.66170	T	0.232	0.59830	T	10	0.12158084	0.23050	T	0.056328	0.66563	D	0.284	0.60219	0.198	0.11110	0.362142726121	0.35819	0.4613488375718328	0.46052	0.686972284618	0.60358	0.556155264378	0.46725	T	0.030817	0.51584	T	-0.137022	0.30365	T	-0.160299	0.58325	T	0.267261083917875	0.23630	T	0.943406	0.80130	D	0.38648418	0.59782	0.42713267	0.66468	0.38648418	0.59782	0.42713267	0.66468	-3.782	0.20536	T	.	.	0.770	0.78104	P	.;.;.;.;.	.;.;.;.;.	2.634672	0.34271	19.58	0.9908183872045444	0.51978	0.86903	0.46289	D	AEFDBCI	0.432765	0.49451	N	-0.0911008627357213	0.37783	2.203132	0.0321786054127352	0.41217	2.472658	0.775698186660096	0.23748	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.85	3.57	0.40014	1.387000	0.34037	4.748000	0.44643	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.7836:0.0:0.2164:0.0	8.645	0.33164	0	0.99858	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2838.98	33	chr11	46542742	.	A	C	2838.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.34;DP=892;ExcessHet=0.0000;FS=2.694;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.77;ReadPosRankSum=0.039;SOR=0.935	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1161	20	0	1	0
chr11	46542959	46542959	T	G	exonic	AMBRA1	.	nonsynonymous SNV	AMBRA1:NM_001300731:exon7:c.A1058C:p.E353A	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.99	D	0.979	D	0.000	D	1.000	D	0.805	L	-0.37	T	-0.398	T	0.356	T	0.562	1.289	10.21	4.72	1.039	3.151	11.044	0.313	0.0844925917756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.876e-07	6.84e-07	1.369e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.262	0.48594	T	0.974	0.57829	D	0.953	0.72001	D	0.000000	0.84330	D	0.000000	0.999683	0.48270	D	1.78	0.46185	L	-0.5	0.72785	T	-2.12	0.48184	N	0.611	0.68603	-0.3978	0.72096	T	0.356	0.71904	T	10	0.32828188	0.50099	T	0.084493	0.74337	D	0.313	0.63482	0.132	0.03662	0.314436011497	0.31061	0.48510847154655024	0.48430	0.646068441587	0.58034	0.561897516251	0.47535	T	0.030461	0.50316	T	0.0387262	0.56879	T	-0.182149	0.56325	T	0.400905233712448	0.28976	T	0.940006	0.78847	D	0.16751084	0.37151	0.12418578	0.29936	0.16751084	0.37151	0.12418578	0.29935	-2.589	0.06420	T	.	.	0.153	0.39932	B	.;.;.;.;.	.;.;.;.;.	3.028227	0.40554	21.2	0.98145960859189441	0.38647	0.89495	0.49996	D	AEFDBCI	0.384354	0.46551	N	0.147162986517352	0.48678	3.077125	0.161145705951574	0.47736	2.99935	0.990375080016216	0.32132	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.85	4.72	0.59248	3.150000	0.50359	7.933000	0.75122	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.578000	0.30845	0.0:0.0732:0.0:0.9268	11.044	0.47066	0	0.99858	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1232.98	33	chr11	46542959	.	T	G	1232.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=804;ExcessHet=0.0000;FS=2.602;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=-1.585e+00;SOR=1.020	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1161	20	0	1	0
chr11	46548338	46548338	C	T	exonic	AMBRA1	.	nonsynonymous SNV	AMBRA1:NM_001267782:exon2:c.G43A:p.G15R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.956	D	0.000	D	1.000	D	0.2	N	-0.14	T	-0.213	T	0.365	T	0.918	3.775	19.16	5.94	2.807	4.295	20.359	0.533	0.0608897624891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.63226	D	0.005	0.92824	D	0.996	0.77913	D	0.936	0.69739	D	0.000000	0.84330	D	0.043500	0.999836	0.54805	D	-0.08	0.04796	N	-0.33	0.70249	T	-2.99	0.96495	D	0.709	0.71232	-0.2128	0.77340	T	0.365	0.72568	T	10	0.5353286	0.63414	D	0.06089	0.68153	D	0.533	0.80367	0.642	0.77903	0.80038695507	0.79852	0.7213171454639603	0.72075	1.58527486452	0.88454	0.796592354774	0.81444	T	0.077445	0.88462	T	0.302866	0.83196	D	0.19727	0.82979	D	0.983927190303802	0.75413	D	0.949205	0.80472	D	0.4651973	0.64994	0.37261048	0.62466	0.4651973	0.64995	0.37261048	0.62466	-4.567	0.31754	T	.	.	0.635	0.76099	P	.;.;.;.;.;.	.;.;.;.;.;.	4.717908	0.75853	26.4	0.99759737126182424	0.84931	0.93292	0.57827	D	AEFBI	0.472825	0.51777	N	0.556703825618376	0.70492	5.509313	0.630853582485066	0.77193	6.632216	0.999999489494246	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.94	5.94	0.96165	4.355000	0.59199	7.660000	0.64180	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.359	0.98850	0	0.99858	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1991.98	34	chr11	46548338	.	C	T	1991.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.205;DP=829;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=1.45;SOR=0.699	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1278	20	0	1	0
chr11	46603567	46603567	C	T	exonic	HARBI1	.	nonsynonymous SNV	HARBI1:NM_173811:exon3:c.G1013A:p.R338H,	.	.	.	.	.	.	.	.	.	.	.	2267731	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.002	B	0.001	B	0.000	D	0.999	D	0.625	N	.	.	-0.999	T	0.124	T	0.471	2.519	14.38	5.06	1.537	2.146	11.928	0.065	0.00442690506939	.	0.000199681	3.434e-05	0	0	0	0	1.529e-05	0	0.0002	3.23e-05	5	154602	rs562293059	1.921e-05	1.984e-05	1.228e-05	2.622e-05	0.0002	1.332e-05	1.147e-05	0.0001	0.0001	5.987e-05	0	0	2.524e-05	0	0	6.311e-06	1.662e-05	0.0002	2.626e-05	2.625e-05	3.854e-05	1.343e-05	0.0002	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0.0002	0	0	4.411e-05	0	0	0.209	0.19710	T	0.244	0.24123	T	0.002	0.09854	B	0.001	0.04355	B	0.000407	0.44736	D	0.187775	0.998972	0.45795	D	1.04	0.26193	L	.	.	.	-1.03	0.27052	N	0.12	0.11054	-0.9994	0.30087	T	0.124	0.42736	T	9	0.052820653	0.05375	T	0.004427	0.10844	T	0.065	0.18881	0.378	0.39319	0.286081765059	0.28222	0.20085241050803743	0.20002	0.210539273682	0.23543	0.418046414852	0.27568	T	0.051778	0.28975	T	-0.241105	0.15208	T	-0.319678	0.42611	T	0.105311490595341	0.12931	T	0.817118	0.47377	T	0.06674311	0.14389	0.050151132	0.07811	0.06674311	0.14389	0.050151132	0.07810	-5.384	0.40765	T	.	.	0.092	0.13644	B	.	.	3.175312	0.43079	21.7	0.98777834632262906	0.46080	0.72557	0.35510	D	AEFDGBCI	0.110658	0.21935	N	-0.218498975035383	0.32374	1.825145	-0.0281925116270787	0.38448	2.265273	0.999985968989425	0.51787	0.706298	0.61202	0	0.522029	0.08744	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.96	5.06	0.67838	2.191000	0.42272	3.345000	0.37739	0.599000	0.40250	0.964000	0.33853	0.996000	0.32793	0.988000	0.63387	0.0:0.862:0.0:0.138	11.928	0.52117	0	0.99858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	868.98	37	chr11	46603567	.	C	T	868.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=756;ExcessHet=0.0000;FS=3.467;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.17;ReadPosRankSum=1.24;SOR=1.201	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1239	20	0	1	0
chr11	46680520	46680520	G	A	exonic	ARHGAP1	.	nonsynonymous SNV	ARHGAP1:NM_004308:exon9:c.C787T:p.L263F,	.	.	414	1062	44	2	0	48	0.0220994	.	.	724452	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.12	T	0.944	P	0.706	P	0.002	N	0.991	D	1.805	L	1.94	T	-0.936	T	0.139	T	0.54	3.242	16.87	2.09	0.289	2.062	3.121	0.033	.	0.0075	0.0061901	0.0075	0.0015	0.0024	0.0002	0.0011	0.0076	0.0056	0.0211	0.0074255	1148	154602	rs144801476	0.0085	0.0085	0.0081	0.0089	0.0219	0.0083	0.0083	0.0211	0.0207	0.0012	0.0041	0.0073	5.038e-05	0.0010	0.0116	0.0085	0.0084	0.0219	0.0063	0.0063	0.0061	0.0066	0.0220	0.0060	0.0059	0.0186	0.0173	0.0015	0	0.0073	0.0086	0.0002	0.0007	0.0102	0.0093	0.0052	0.0220	0.014	0.53172	D	0.131	0.34596	T	0.944	0.53183	P	0.706	0.54345	P	0.002202	0.37012	N	0.289856	0.990818	0.41242	D	1.59	0.40313	L	1.94	0.22678	T	-2.33	0.51646	N	0.586	0.60664	-0.9359	0.43257	T	0.139	0.45810	T	10	0.010460794	0.00233	T	.	.	.	0.230	0.53062	.	.	0.370424759081	0.36655	0.5728059168516507	0.57208	0.726963817646	0.62542	0.465059936047	0.34003	T	0.229299	0.59508	T	-0.422845	0.01641	T	-0.363244	0.37677	T	0.0448128616842394	0.04568	T	0.966303	0.87634	D	0.34336683	0.56546	0.21950996	0.46693	0.34336683	0.56546	0.21950996	0.46692	-8.915	0.67148	D	.	.	0.456	0.62489	A	.	.	3.736251	0.53476	23.4	0.99819281351141431	0.90238	0.88351	0.48239	D	AEFDGBCI	0.285061	0.39777	N	-0.0191197558799361	0.40991	2.443943	-0.030446427730066	0.38346	2.257928	0.989964223913407	0.31991	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.01	2.09	0.26154	2.089000	0.41297	7.457000	0.59017	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.625000	0.32026	0.1582:0.3719:0.3473:0.1225	3.121	0.06006	17	0.98681	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain	.	.	.	.	chr11:46702070	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	793.98	35	chr11	46680520	.	G	A	793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=-3.400e-01;SOR=0.644	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1406	20	0	1	0
chr11	46890027	46890027	G	A	exonic	LRP4	.	nonsynonymous SNV	LRP4:NM_002334:exon15:c.C2009T:p.T670M,	Cenani-Lenz syndactyly syndrome, Autosomal recessive;Sclerosteosis 2, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	640083	Sclerosteosis_2|Congenital_myasthenic_syndrome_17|Cenani-Lenz_syndactyly_syndrome	MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305,Orphanet:3152|MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304,Orphanet:590|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780,Orphanet:3258	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.963	D	0.000	D	1.000	D	3.205	M	-3.21	D	1.002	D	0.919	D	0.893	4.537	24.5	6.03	2.861	9.476	20.557	0.763	0.582228824338	.	.	1.65e-05	9.654e-05	0	0	0	0	0	6.057e-05	1.29e-05	2	154602	rs752512047	1.231e-05	1.231e-05	6.806e-06	1.788e-05	1.529e-05	7.7e-06	6.35e-06	9.31e-06	7.61e-06	0	0	0	0	0	0	1.529e-05	0	1.159e-05	6.574e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.963	0.70837	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.44	0.92123	M	-3.21	0.93291	D	-4.2	0.75695	D	0.696	0.70088	1.002	0.97230	D	0.919	0.97311	D	10	0.8573454	0.84937	D	0.582229	0.96260	D	0.763	0.91962	0.427	0.47350	0.941773435343	0.94116	0.7450396940428681	0.74449	1.47140903019	0.86538	0.840739965439	0.88208	D	0.748315	0.93083	D	0.432187	0.91643	D	0.479884	0.94199	D	0.996706068515778	0.89904	D	0.944805	0.79065	D	0.47559035	0.65632	0.56002337	0.74544	0.47559035	0.65632	0.56002337	0.74545	-8.738	0.65994	D	.	.	0.581	0.68110	P	.	.	5.465238	0.91209	32	0.99908995602498429	0.97875	0.82931	0.42095	D	AEFDGBCIJ	0.933964	0.92663	D	1.024574542855	0.96450	14.71115	0.980608049802782	0.98217	17.70252	1.0	0.98316	0.631981	0.41245	0	0.858003	0.99906	0	0.779548	0.98927	0	0.599892	0.37169	0	.	.	6.03	6.03	0.97798	9.602000	0.97623	11.868000	0.98498	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.446000	0.27806	0.0:0.0:1.0:0.0	20.557	0.99307	12	0.98946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2276.98	83	chr11	46890027	.	G	A	2276.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.540e-01;DP=1617;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.41;ReadPosRankSum=1.14;SOR=0.703	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1382	20	0	1	0
chr11	47175270	47175270	T	C	exonic	ARFGAP2	.	nonsynonymous SNV	ARFGAP2:NM_001242832:exon4:c.A308G:p.N103S	.	.	435	1083	3	1	0	5	0.00230309	.	.	3202163	ARFGAP2-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.25	T	0.204	B	0.066	B	0.000	D	1.000	D	1.16	L	3.28	T	-1.081	T	0.078	T	0.139	2.625	14.74	4.4	0.936	5.964	9.296	0.049	0.0181558379529	0.0012	0.000599042	0.0015	0.0003	0.0012	0	0.0009	0.0019	0	0.0021	0.0015977	247	154602	rs117324352	0.0021	0.0021	0.0021	0.0021	0.0023	0.0020	0.0020	0.0022	0.0022	0.0005	0.0015	0.0051	0	0.0009	0.0009	0.0023	0.0022	0.0019	0.0013	0.0013	0.0014	0.0012	0.0019	0.0012	0.0011	0.0017	0.0016	0.0004	0	0.0011	0.0061	0	0.0005	0	0.0019	0.0019	0.0015	0.03	0.45393	D	0.217	0.35455	T	0.011	0.15914	B	0.008	0.13708	B	0.000000	0.84330	D	0.000000	0.999992	0.81001	D	1.33	0.33268	L	1.07	0.41058	T	-2.81	0.63207	D	0.353	0.40465	-1.0812	0.07118	T	0.078	0.31133	T	10	0.00812155	0.00184	T	0.018156	0.40130	T	0.049	0.13647	.	.	0.323442020237	0.31956	0.20209940522075892	0.20126	0.179791030076	0.20224	0.495188951492	0.38157	T	0.090981	0.38699	T	-0.488293	0.00664	T	-0.480343	0.24409	T	0.0301598956095464	0.02015	T	0.951905	0.81545	D	0.38238308	0.59489	0.24581955	0.50078	0.38238308	0.59489	0.24581955	0.50077	-7.044	0.54354	T	.	.	0.068	0.07650	B	.;.;.;.;.;.	.;.;.;.;.;.	3.761997	0.53988	23.4	0.97620172986782461	0.34960	0.94813	0.62418	D	AEFGBCI	0.734419	0.68055	D	-0.0722769903866548	0.38611	2.264109	0.0890109020600232	0.43994	2.689839	0.99999987127358	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.52	4.4	0.52402	5.942000	0.69916	3.512000	0.38846	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.1441:0.0:0.8559	9.296	0.36980	26	0.98304	Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein;Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein;Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein;Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein;Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein;Arf GTPase activating protein	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	772.98	35	chr11	47175270	.	T	C	772.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.724;DP=756;ExcessHet=0.0000;FS=3.257;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.89;ReadPosRankSum=0.358;SOR=1.118	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1160	20	0	1	0
chr11	47179574	47179574	A	G	exonic	PACSIN3	.	nonsynonymous SNV	PACSIN3:NM_001184974:exon7:c.T616C:p.Y206H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.993	D	0.000	D	1.000	D	2.91	M	0.31	T	0.003	D	0.439	T	0.894	3.923	19.96	5.4	2.052	9.339	15.430	0.691	0.0573984855461	.	0.000199681	0.0002	0	0	0	0	0	0	0.0016	0.0001746	27	154602	rs555969464	8.35e-05	8.345e-05	4.086e-05	0.0001	0.0014	7.14e-05	6.688e-05	0.0012	0.0011	0	0	0	0	0	0.0002	0	3.312e-05	0.0014	3.285e-05	3.281e-05	2.571e-05	4.032e-05	0.0010	1.261e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.245	0.89746	M	0.31	0.58613	T	-4.71	0.79915	D	0.873	0.87049	0.003	0.82321	D	0.439	0.77796	T	10	0.3047086	0.47993	T	0.057398	0.66949	D	0.691	0.88773	0.449	0.50957	0.888266030214	0.88716	0.62509060996401	0.62442	1.38241626667	0.84808	0.748027861118	0.74156	T	0.712738	0.91819	D	0.0530437	0.58735	T	0.262884	0.86226	D	0.514457225799561	0.33161	D	0.80242	0.44873	T	0.8403122	0.86630	0.7679268	0.86294	0.8403122	0.86632	0.7679268	0.86295	-9.257	0.69337	D	.	.	0.903	0.89681	P	.;.;.	.;.;.	4.969889	0.82239	27.7	0.99828493414403507	0.91026	0.93838	0.59337	D	AEFDGBHCI	0.966975	0.98943	D	0.828797508269392	0.87870	9.370085	0.756373895640223	0.86633	8.952023	0.999999999999998	0.74766	0.712529	0.81865	0	0.703908	0.78521	0	0.779548	0.98927	0	0.691587	0.68394	0	.	.	5.4	5.4	0.77957	9.325000	0.96006	11.265000	0.91209	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.324000	0.25064	1.0:0.0:0.0:0.0	15.430	0.74818	27	0.98276	F-BAR domain;F-BAR domain;F-BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	882.98	54	chr11	47179574	.	A	G	882.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.630e-01;DP=749;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.35;ReadPosRankSum=-6.200e-02;SOR=0.555	GT:AD:DP:GQ:PL	0/0:33,0:33:81:0,81,1215	20	0	1	0
chr11	47216900	47216900	A	C	exonic	DDB2	.	nonsynonymous SNV	DDB2:NM_000107:exon3:c.A307C:p.I103L	Xeroderma pigmentosum, group E, DDB-negative subtype, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.004	B	0.000	D	1.000	N	0.345	N	1.72	T	-0.998	T	0.098	T	0.132	0.514	6.783	3.53	1.037	3.108	2.206	0.067	0.00410271108761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.902	0.02862	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.08700	B	0.000015	0.62929	D	0.152594	1	0.81001	D	1.445	0.36358	L	-0.44	0.69777	T	-0.36	0.15178	N	0.149	0.19055	-0.9983	0.30395	T	0.098	0.36574	T	10	0.0802618	0.13008	T	0.004103	0.09806	T	0.067	0.19503	0.4	0.42917	0.631273993836	0.62825	0.3567535755733577	0.35589	0.372302872181	0.38724	0.456221938133	0.32794	T	0.006243	0.44746	T	-0.14028	0.29845	T	-0.439279	0.28888	T	0.21970222890377	0.21449	T	0.666933	0.28770	T	0.1402395	0.32364	0.05185924	0.08429	0.1402395	0.32363	0.05185924	0.08428	-2.457	0.37960	T	.	.	0.201	0.49137	B	.;.;.;.	.;.;.;.	1.901963	0.24156	16.29	0.81000352854232216	0.13471	0.69214	0.34100	D	AEGBCI	0.187634	0.31493	N	-0.458868711798641	0.23439	1.258793	-0.231715810452704	0.30408	1.71176	0.99999064347054	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.657601	0.63696	0	.	.	5.78	3.53	0.39533	3.247000	0.51123	4.351000	0.43088	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.4933:0.2861:0.0977:0.1229	2.206	0.03695	32	0.98147	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1221.98	36	chr11	47216900	.	A	C	1221.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.873;DP=780;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.87;ReadPosRankSum=0.371;SOR=0.612	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1149	20	0	1	0
chr11	47284405	47284405	G	A	exonic	MADD	.	nonsynonymous SNV	MADD:NM_001376663:exon10:c.G1331A:p.G444E	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	1.0	D	1.0	D	0.000	D	1.000	D	2.075	M	3.43	T	-1.230	T	0.078	T	0.971	4.925	28.5	6.17	2.941	7.548	20.879	0.391	0.00468716350497	.	.	1.648e-05	0	0	0	0	2.999e-05	0	0	1.29e-05	2	154602	rs775513347	4.788e-06	4.788e-06	2.722e-06	6.875e-06	5.396e-06	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	1.0	0.09329	T	0.999	0.90584	D	0.995	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.905	0.50856	L	3.21	0.07478	T	-2.79	0.61284	D	0.593	0.61680	-1.2303	0.00029	T	0.078	0.31163	T	10	0.3750846	0.53770	T	0.004687	0.11660	T	0.391	0.70684	0.203	0.11797	0.491317756052	0.48765	0.4507801745467601	0.44996	0.545405473843	0.51576	0.906606316566	0.97140	D	0.052938	0.61790	T	0.198959	0.73794	D	0.063501	0.74477	D	0.792697608470917	0.45866	D	0.956904	0.83911	D	0.5995454	0.72666	0.68341964	0.81390	0.5995454	0.72667	0.68341964	0.81391	-3.456	0.16139	T	.	.	0.381	0.83008	A	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.112556	0.85479	28.6	0.99788745261876599	0.87484	0.99436	0.96005	D	AEFDGBI	0.926940	0.90882	D	0.877195319181051	0.90597	10.47752	0.888947384405572	0.95073	13.28698	0.999999999999947	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	7.668000	0.82869	11.905000	0.99459	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.879	0.99870	19	0.98577	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1551.98	35	chr11	47284405	.	G	A	1551.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.020;DP=853;ExcessHet=0.0000;FS=1.501;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=-2.717e+00;SOR=0.522	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1477	20	0	1	0
chr11	47349804	47349804	C	G	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon5:c.G624C:p.Q208H,	Cardiomyopathy, dilated, 1MM, Autosomal dominant;Cardiomyopathy, hypertrophic, 4, Autosomal dominant;Left ventricular noncompaction 10, Autosomal dominant	YES	1	1518	2	1	0	4	0.00131579	.	.	51945	not_specified|Cardiovascular_phenotype|Cardiomyopathy|not_provided|Left_ventricular_noncompaction_10|Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Hypertrophic_cardiomyopathy_4	MedGen:CN169374|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396,Orphanet:154,Orphanet:54260|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:155|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.991	D	.	.	1.000	D	2.75	M	-0.31	T	0.213	D	0.534	D	0.909	4.439	23.6	4.8	2.385	3.328	18.212	0.613	0.274588298659	0.0004	.	0.0002	0	0	0	0	0.0003	0.0012	0	0.0001423	22	154602	rs202139499	0.0001	0.0001	0.0001	0.0001	0.0024	0.0001	0.0001	0.0015	0.0012	2.988e-05	0	0.0049	0	0	0.0024	1.349e-05	0.0003	2.324e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	1.972e-05	1.124e-05	2.404e-05	0	0	0.0058	0	0	0.0136	5.879e-05	0	0.0002	0.002	0.72154	D	0.007	0.69154	D	1.0	0.90584	D	0.991	0.79672	D	.	.	.	.	1	0.81001	D	2.47	0.71715	M	-0.31	0.68030	T	-3.94	0.73378	D	0.932	0.93723	0.213	0.86124	D	0.534	0.82757	D	9	0.17741412	0.32775	T	0.274588	0.90007	D	0.613	0.84879	0.51	0.60693	0.919661246558	0.91885	0.7024127926520404	0.70182	0.803777723304	0.66371	0.613187491894	0.54766	T	0.621553	0.88145	D	0.163679	0.70541	D	0.18902	0.82512	D	0.312912847421033	0.25533	T	0.886911	0.61435	D	0.44138905	0.63492	0.5282706	0.72745	0.55306375	0.70127	0.4735367	0.69485	-7.626	0.58492	D	0.7603870661206449	0.84221	0.339	0.70276	B	.;.;.	.;.;.	2.922653	0.38803	20.8	0.99713173107143882	0.81493	0.96663	0.70280	D	AEFDGBI	0.917420	0.88501	D	0.651018964258453	0.76436	6.485945	0.568237069518269	0.72677	5.847478	0.99999999999999	0.74766	0.580535	0.33130	0	0.578056	0.33634	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.8	4.8	0.61157	2.782000	0.47445	0.841000	0.22043	-0.182000	0.10109	1.000000	0.71638	0.999000	0.35428	0.337000	0.25363	0.0:1.0:0.0:0.0	18.212	0.89810	18	0.98631	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	980.98	33	chr11	47349804	.	C	G	980.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.148e+00;DP=781;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=1.72;SOR=0.597	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1153	20	0	1	0
chr11	47565758	47565758	C	G	exonic	PTPMT1	.	nonsynonymous SNV	PTPMT1:NM_001143984:exon1:c.C136G:p.L46V	.	.	388	1130	4	0	0	4	0.00176678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.782	P	0.3	B	0.126	U	1.000	N	1.775	L	1.99	T	-0.902	T	0.172	T	0.221	2.688	14.95	3.42	0.615	0.677	10.074	0.075	0.0549376944573	.	.	0.0001	0.0004	0	0	0	0	0	0.0006	3.88e-05	6	154602	rs747019651	1.941e-05	1.984e-05	5.507e-06	3.352e-05	0.0003	1.346e-05	1.159e-05	0.0002	0.0002	0	0	0	0	0	0	0	1.682e-05	0.0003	6.572e-06	6.563e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.013	0.53900	D	0.027	0.56192	D	0.782	0.44333	P	0.187	0.36167	B	0.125673	0.18833	U	0.437967	0.984203	0.24820	N	2.15	0.60148	M	1.99	0.61326	T	-0.91	0.24460	N	0.151	0.20793	-0.9018	0.47803	T	0.172	0.51421	T	10	0.13126543	0.24982	T	0.054938	0.66045	D	0.075	0.21907	0.679	0.81691	0.673730733854	0.67097	0.6040287904958269	0.60333	0.555016166162	0.52216	0.858489751816	0.90887	D	0.053222	0.44776	T	-0.286342	0.10006	T	-0.394041	0.34080	T	0.349418878555298	0.26996	T	.	.	.	0.08352233	0.19292	0.13363802	0.32041	0.08352233	0.19291	0.13363802	0.32040	-4.059	0.47002	T	.	.	0.330	0.57117	B	.;.;.;.	.;.;.;.	2.093629	0.26636	17.19	0.99037421107713119	0.50939	0.61930	0.31629	D	AEFDGBHCI	0.300047	0.40893	N	-0.234494611739317	0.31726	1.78192	-0.215833233016863	0.30968	1.748278	0.999999999990738	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.28	3.42	0.38259	0.737000	0.25812	1.702000	0.28138	-0.202000	0.08738	0.997000	0.40164	1.000000	0.68203	0.742000	0.35507	0.0:0.843:0.0:0.157	10.074	0.41522	10	0.99061	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1029.98	33	chr11	47565758	.	C	G	1029.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.626e+00;DP=806;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.20;ReadPosRankSum=0.904;SOR=0.662	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1080	20	0	1	0
chr11	47571628	47571628	G	C	exonic	PTPMT1	.	stoploss	PTPMT1:NM_175732:exon4:c.G605C:p.X202S,	.	.	429	1046	45	2	0	49	0.0228865	.	.	724472	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	1.987	12.60	3.83	0.763	1.426	8.671	.	.	0.0033	0.00479233	0.0048	0.0006	0.0021	0	0.0003	0.0031	0.0056	0.0206	0.0044889	694	154602	rs190036505	0.0045	0.0045	0.0040	0.0050	0.0216	0.0044	0.0044	0.0208	0.0205	0.0003	0.0034	0.0059	2.519e-05	0.0003	0.0097	0.0036	0.0057	0.0216	0.0033	0.0033	0.0030	0.0036	0.0176	0.0031	0.0030	0.0146	0.0135	0.0006	0	0.0064	0.0075	0	9.432e-05	0.0034	0.0038	0.0028	0.0176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19925	N	.	.	.	.	.	.	.	.	.	0.019	0.01911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.708386	0.00033	T	-0.774067	0.02637	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.093886	0.14780	11.32	0.81204982214846133	0.13571	0.23723	0.22168	N	AEFDBI	.	.	.	0.427615056586219	0.62947	4.519161	0.117655390967351	0.45451	2.808114	0.999995454322416	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.320204	0.05785	0	0.322829	0.05601	0	0.0548293	0.12563	5.71	3.83	0.43287	1.475000	0.35017	4.555000	0.43818	0.656000	0.54149	0.275000	0.25094	1.000000	0.68203	0.258000	0.23468	0.1734:0.0:0.8266:0.0	8.671	0.33314	10	0.99061	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	998.98	34	chr11	47571628	.	G	C	998.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=769;ExcessHet=0.0000;FS=3.500;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.91;ReadPosRankSum=-3.600e-01;SOR=0.356	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1065	20	0	1	0
chr11	47590239	47590239	T	C	exonic	C1QTNF4	.	nonsynonymous SNV	C1QTNF4:NM_031909:exon2:c.A572G:p.D191G,	.	.	438	1073	11	0	0	11	0.00509968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.673	P	0.42	B	0.006	U	1.000	D	1.5	L	-2.05	D	-0.182	T	0.503	D	0.338	3.902	19.84	4.32	1.694	2.795	13.775	0.406	0.949456277363	0.0011	0.00379393	0.0038	0.0018	0.0064	0	0.0043	0.0046	0	0.0014	0.0017335	268	154602	rs201749016	0.0037	0.0036	0.0038	0.0036	0.0067	0.0036	0.0036	0.0049	0.0043	0.0011	0.0040	0.0021	2.708e-05	0.0008	0.0067	0.0041	0.0035	0.0020	0.0031	0.0031	0.0032	0.0030	0.0054	0.0029	0.0028	0.0044	0.0041	0.0014	0.0166	0.0054	0.0014	0	0.0003	0.0034	0.0041	0.0072	0.0015	0.015	0.52492	D	0.038	0.51421	D	0.673	0.41222	P	0.42	0.45080	B	0.006078	0.32295	U	0.325222	0.999958	0.52396	D	1.95	0.52479	M	-2.05	0.85799	D	-3.81	0.71882	D	0.471	0.50688	-0.1816	0.78141	T	0.503	0.81252	D	10	0.008850932	0.00200	T	0.949456	0.99652	D	0.406	0.71869	.	.	0.61400623346	0.61089	0.5266001439403606	0.52584	.	.	0.925935864449	0.98741	D	0.420358	0.77209	T	-0.259625	0.12943	T	-0.145443	0.59645	T	0.0263482685529125	0.01454	T	.	.	.	0.5145901	0.67947	0.33953166	0.59717	0.5145901	0.67948	0.33953166	0.59717	-5.034	0.37207	T	.	.	0.085	0.10062	B	.	.	3.725956	0.53274	23.3	0.98870082143466709	0.47632	0.89913	0.50694	D	AEFDBCI	.	.	.	0.0745445472570139	0.45277	2.78698	0.118252495510014	0.45481	2.810629	0.999999999997168	0.74766	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.618803	0.45993	0	.	.	4.32	4.32	0.50899	5.723000	0.68141	5.736000	0.49547	0.560000	0.28382	1.000000	0.71638	1.000000	0.68203	0.715000	0.34611	0.0:0.0:0.0:1.0	13.775	0.62538	10	0.99061	C1q domain|C1q domain|C1q domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	957.11	50	chr11	47590239	.	T	C	957.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.642;DP=767;ExcessHet=0.1072;FS=0.887;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.29;ReadPosRankSum=1.12;SOR=0.849	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1350	19	0	2	0
chr11	47590314	47590314	G	C	exonic	C1QTNF4	.	nonsynonymous SNV	C1QTNF4:NM_031909:exon2:c.C497G:p.A166G,	.	.	.	.	.	.	.	.	.	.	.	3295043	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.51	T	0.003	B	0.002	B	0.231	U	1.000	N	0.69	N	-0.92	T	-0.912	T	0.213	T	0.074	1.827	12.07	2.26	2.086	0.163	4.517	0.160	0.742979258326	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1420864182	7.351e-05	7.456e-05	5.167e-05	9.739e-05	0.0019	5.998e-05	5.552e-05	0.0015	0.0014	0	0	0	0	0	0	7.685e-06	7.262e-05	0.0019	4.756e-05	4.616e-05	0	9.763e-05	0.0015	2.174e-05	1.568e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.39	0.10838	T	0.462	0.12526	T	0.003	0.11197	B	0.002	0.06944	B	0.231044	0.03518	U	1.678960	1	0.08975	N	-1.1	0.00987	N	-0.92	0.75108	T	0.07	0.06138	N	0.086	0.06322	-0.9117	0.46645	T	0.213	0.57347	T	10	0.05299875	0.05421	T	0.742979	0.97943	D	0.160	0.41473	0.216	0.13643	0.295226631146	0.29124	0.14810612609150253	0.14732	.	.	0.86514878273	0.91868	D	0.002708	0.02096	T	-0.198256	0.21058	T	-0.522557	0.20036	T	0.202073007822037	0.20529	T	.	.	.	0.06930487	0.15172	0.05433896	0.09326	0.06930487	0.15172	0.05433896	0.09326	-3.255	0.13164	T	.	.	0.059	0.00806	B	.	.	1.807574	0.22973	15.84	0.95934469152264401	0.28225	0.09035	0.14870	N	AEFDBCIJ	.	.	.	-0.59610506282356	0.19063	0.9947376	-0.484176332393736	0.22589	1.227666	0.999971262869227	0.50053	0.700653	0.57754	0	0.588066	0.40923	0	0.717052	0.78885	0	0.603991	0.37454	0	.	.	4.32	2.26	0.27418	0.149000	0.16062	1.930000	0.29765	0.555000	0.28237	0.000000	0.06391	0.395000	0.24683	0.997000	0.79791	0.2321:0.2052:0.5627:0.0	4.517	0.11347	10	0.99061	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	420.12	13	chr11	47590314	.	G	C	420.12	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.560;DP=427;ExcessHet=0.1072;FS=1.744;InbreedingCoeff=-0.0505;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.00;ReadPosRankSum=0.489;SOR=0.324	GT:AD:DP:GQ:PL	0/0:21,0:21:60:0,60,718	19	0	2	0
chr11	47622717	47622717	C	T	exonic	MTCH2	.	nonsynonymous SNV	MTCH2:NM_001317232:exon11:c.G782A:p.C261Y	.	.	427	1056	37	2	0	41	0.0190432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.828	P	0.37	B	0.001	N	0.575	N	0.345	N	-1.09	T	-0.430	T	0.256	T	0.379	2.935	15.78	4.9	1.464	0.755	11.970	0.260	.	0.0014	0.00459265	0.0039	0.0003	0.0010	0	0.0003	0.0021	0.0033	0.0191	0.0033829	523	154602	rs146359770	0.0021	0.0022	0.0016	0.0027	0.0177	0.0021	0.0020	0.0170	0.0167	0.0004	0.0012	0.0049	5.09e-05	0.0005	0.0111	0.0010	0.0034	0.0177	0.0018	0.0018	0.0015	0.0020	0.0195	0.0016	0.0015	0.0163	0.0151	0.0002	0	0.0014	0.0066	0.0002	0.0006	0.0034	0.0016	0.0014	0.0195	0.068	0.35726	T	0.068	0.44106	T	0.828	0.46021	P	0.37	0.43538	B	0.001328	0.39379	N	0.316263	0.645907	0.31150	N	0.755	0.19153	N	-1.09	0.77206	T	-0.97	0.29323	N	0.391	0.43223	-0.4300	0.71067	T	0.256	0.62654	T	10	0.0061473846	0.00138	T	.	.	.	0.260	0.57221	.	.	0.812756828345	0.81100	0.7391066366388342	0.73855	0.383605318214	0.39684	0.47454893589	0.35307	T	0.002147	0.08397	T	-0.332788	0.05903	T	-0.236523	0.51137	T	0.0115689649188101	0.00175	T	.	.	.	0.106424846	0.25164	0.11889497	0.28699	0.106424846	0.25164	0.11889497	0.28699	-3.777	0.20461	T	.	.	0.074	0.24260	B	.;.	.;.	2.579658	0.33447	19.34	0.98582890088756236	0.43271	0.85861	0.45043	D	AEFBI	0.609948	0.59896	D	0.0688766069965475	0.45016	2.765244	0.169932464157825	0.48207	3.039841	0.127170478720994	0.17014	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	4.9	0.63643	1.614000	0.36522	0.569000	0.19588	0.599000	0.40250	1.000000	0.71638	0.995000	0.32472	0.989000	0.64315	0.0:0.919:0.0:0.081	11.970	0.52349	10	0.99061	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	479.98	33	chr11	47622717	.	C	T	479.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.021;DP=904;ExcessHet=0.0000;FS=1.317;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.53;MQRankSum=0.00;QD=12.97;ReadPosRankSum=-9.440e-01;SOR=0.399	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,114,1207	20	0	1	0
chr11	47660194	47660194	C	G	exonic	AGBL2	.	nonsynonymous SNV	AGBL2:NM_024783:exon19:c.G2688C:p.L896F,	.	.	.	.	.	.	.	.	.	.	.	3250287	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.779	P	0.197	B	0.006	N	1.000	N	1.6	L	2.58	T	-1.027	T	0.022	T	0.258	2.515	14.37	0.485	0.314	0.084	3.372	0.023	0.00574626851004	.	0.000199681	0.0002	0	8.642e-05	0	0	0	0.0011	0.0014	0.0001682	26	154602	rs537747035	0.0001	0.0001	5.718e-05	0.0002	0.0017	9.335e-05	8.818e-05	0.0015	0.0014	0	4.474e-05	0	0	0	0	1.799e-06	9.937e-05	0.0017	4.596e-05	4.593e-05	0	9.401e-05	0.0014	2.108e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	0.0	0.91255	D	0.076	0.42976	T	0.779	0.44223	P	0.197	0.36707	B	0.006422	0.32040	N	0.000000	0.985213	0.24731	N	1.1	0.28011	L	2.58	0.13434	T	-0.7	0.19933	N	0.197	0.21710	-1.0270	0.21429	T	0.022	0.09330	T	10	0.020067245	0.00456	T	0.005746	0.14892	T	0.023	0.04649	0.24	0.17218	0.176091768786	0.17195	0.11659715920635105	0.11587	0.558280205914	0.52413	0.470350921154	0.34729	T	0.008967	0.08195	T	-0.517038	0.00458	T	-0.540093	0.18287	T	0.185677837903577	0.19586	T	.	.	.	0.1732652	0.38065	0.14537123	0.34480	0.1732652	0.38065	0.14537123	0.34479	-4.162	0.26199	T	.	.	0.106	0.46458	B	.;.	.;.	2.335829	0.29927	18.28	0.98669463717687977	0.44456	0.75015	0.36712	D	AEFGI	0.129927	0.24828	N	-0.250904323778815	0.31068	1.738395	-0.291110651619026	0.28390	1.582625	0.00273276606693919	0.09669	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.79	0.485	0.16040	0.087000	0.14801	0.575000	0.19646	0.549000	0.26987	0.994000	0.38300	0.998000	0.33993	0.924000	0.46004	0.3593:0.4456:0.0:0.1952	3.372	0.06802	10	0.99061	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1377.11	33	chr11	47660194	.	C	G	1377.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-9.940e-01;DP=740;ExcessHet=0.1072;FS=5.181;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.77;ReadPosRankSum=1.75;SOR=0.347	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1206	19	0	2	0
chr11	47682040	47682040	C	T	exonic	AGBL2	.	nonsynonymous SNV	AGBL2:NM_024783:exon12:c.G1844A:p.R615Q,	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.993	D	0.000	D	1.000	D	3.955	H	1.47	T	-0.072	T	0.330	T	0.972	3.349	17.28	5.47	2.573	7.408	19.333	0.694	0.161701515949	.	.	.	.	.	.	.	.	.	.	.	.	.	rs964360244	6.841e-06	6.84e-06	6.806e-06	6.876e-06	1.159e-05	3.46e-06	2.52e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	4.967e-05	1.159e-05	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.994	0.77913	D	0.973	0.75793	D	0.000000	0.84330	D	0.000000	0.999943	0.51968	D	4.385	0.98597	H	1.47	0.31987	T	-3.83	0.72120	D	0.965	0.97643	-0.0720	0.80734	T	0.330	0.69741	T	10	0.893996	0.88749	D	0.161702	0.84144	D	0.694	0.88913	.	.	0.704500368519	0.70193	0.9495623881981353	0.94939	0.565556334051	0.52891	0.701879858971	0.67416	T	0.464011	0.79974	T	0.282531	0.81532	D	0.16806	0.81294	D	0.999870300292969	0.99471	D	.	.	.	0.7524054	0.81008	0.682361	0.81330	0.7524054	0.81010	0.682361	0.81331	-11.072	0.80051	D	.	.	0.913	0.83637	P	.;.;.	.;.;.	5.311047	0.89155	29.9	0.99263534102549966	0.57289	0.97696	0.76478	D	AEFBI	0.874667	0.79766	D	0.864275392235559	0.89906	10.16809	0.726629071947378	0.84399	8.281502	0.999999999997429	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.47	5.47	0.80345	7.547000	0.81094	7.600000	0.61533	0.568000	0.28809	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	19.333	0.94287	11	0.98996	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1045.98	35	chr11	47682040	.	C	T	1045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.580e-01;DP=797;ExcessHet=0.0000;FS=1.530;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.34;ReadPosRankSum=-1.173e+00;SOR=0.890	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1375	20	0	1	0
chr11	47779174	47779174	G	T	exonic	NUP160	.	nonsynonymous SNV	NUP160:NM_015231:exon36:c.C4242A:p.D1414E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.816	P	0.311	B	0.000	D	1.000	D	1.245	L	1.59	T	-1.105	T	0.055	T	0.398	3.225	16.81	4.66	1.496	2.661	12.930	0.090	0.00920158536428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.453	0.08917	T	0.152	0.32249	T	0.816	0.45573	P	0.311	0.41430	B	0.000016	0.62929	D	0.126700	0.995199	0.81001	D	1.1	0.28011	L	1.59	0.28836	T	-0.51	0.15986	N	0.129	0.12341	-1.1050	0.03537	T	0.055	0.23148	T	10	0.14362082	0.27265	T	0.009202	0.24177	T	0.090	0.26093	0.177	0.08379	0.308278614506	0.30437	0.22716847177845445	0.22631	0.189557349324	0.21274	0.697752356529	0.66820	T	0.017331	0.14159	T	-0.140313	0.29842	T	-0.439327	0.28883	T	0.64830219745636	0.38389	D	.	.	.	0.054191303	0.10362	0.066436365	0.13609	0.054191303	0.10362	0.066436365	0.13609	-2.966	0.09819	T	.	.	0.095	0.14842	B	.	.	2.552597	0.33039	19.22	0.99571228979558457	0.72379	0.93905	0.59531	D	AEFGBI	0.324920	0.42666	N	0.0704408912680736	0.45087	2.771237	0.167723403673578	0.48090	3.029634	0.999960917479138	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	4.66	0.57857	1.385000	0.34014	5.130000	0.47647	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.076:0.0:0.924:0.0	12.930	0.57681	14	0.98855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	981.98	40	chr11	47779174	.	G	T	981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.388e+00;DP=838;ExcessHet=0.0000;FS=0.888;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=0.726;SOR=0.531	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr11	47980978	47980980	GCT	-	exonic	PTPRJ	.	nonframeshift deletion	PTPRJ:NM_001098503:exon1:c.66_68del:p.L28del	Colon cancer, somatic	.	322	1192	8	0	0	8	0.00334448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	.	.	0	3.84e-05	1	26028	rs747484779	0.0005	0.0063	0.0004	0.0005	0.0020	0.0004	0.0004	0.0012	0.0010	0.0006	0.0020	0.0013	0.0013	0.0014	0.0011	0.0004	0.0007	0.0004	5.448e-05	0.0002	5.308e-05	5.596e-05	0.0004	2.639e-05	1.889e-05	7.424e-05	3.079e-05	4.938e-05	0	6.709e-05	0	0.0004	0.0001	0	3.015e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	126.25	5	chr11	47980977	.	CGCT	C	126.25	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.660e-01;DP=144;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0843;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=0.967;SOR=0.495	GT:AD:DP:GQ:PL	0/0:8,0:8:24:0,24,190	19	0	2	0
chr11	48127804	48127804	C	T	exonic	PTPRJ	.	nonsynonymous SNV	PTPRJ:NM_001098503:exon7:c.C1118T:p.T373I	Colon cancer, somatic	.	1	1519	1	1	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.984	D	0.845	P	.	.	1.000	N	1.1	L	0.28	T	-0.880	T	0.194	T	0.076	3.347	17.27	-2.4	-0.369	-1.062	6.175	0.131	0.0603790060558	.	.	2.475e-05	0	0	0	0	0	0.0011	0.0001	1.94e-05	3	154602	rs769386247	1.505e-05	1.505e-05	1.497e-05	1.513e-05	5.797e-05	9.85e-06	8.41e-06	2.194e-05	1.43e-05	2.987e-05	0	0	0	0	0	1.259e-05	3.312e-05	5.797e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.192	0.48642	T	0.215	0.41742	T	0.645	0.40526	P	0.53	0.48544	P	.	.	.	.	1	0.08975	N	1.39	0.34934	L	0.28	0.59037	T	-1.92	0.55821	N	0.137	0.13484	-0.8797	0.49786	T	0.194	0.54696	T	9	0.13243386	0.25205	T	0.060379	0.67983	D	0.131	0.35738	0.48	0.55983	0.585593966701	0.58232	0.3362593843747178	0.33538	0.588612884424	0.54400	0.2967184484	0.09914	T	0.100846	0.55373	T	-0.39329	0.02561	T	-0.600057	0.12806	T	0.223100587725639	0.21618	T	0.758124	0.38180	T	0.07307525	0.16304	0.07438845	0.16269	0.07307525	0.16304	0.07438845	0.16268	-5.979	0.47623	T	.	.	0.155	0.34927	B	.;.;.;.	.;.;.;.	0.769906	0.11396	8.010	0.99608116872220998	0.74634	0.02067	0.06161	N	AEFDGBI	0.061057	0.11646	N	-0.569937956078228	0.19862	1.042871	-0.759413444511393	0.15491	0.8149868	0.999797472379948	0.43153	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.61	-2.4	0.06204	-1.239000	0.03026	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.770000	0.36519	0.3207:0.3082:0.3711:0.0	6.175	0.19654	137	0.94565	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1631.98	35	chr11	48127804	.	C	T	1631.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.15;DP=855;ExcessHet=0.0000;FS=3.979;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.33;ReadPosRankSum=0.392;SOR=1.041	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1314	20	0	1	0
chr11	48127926	48127926	G	A	exonic	PTPRJ	.	nonsynonymous SNV	PTPRJ:NM_001098503:exon7:c.G1240A:p.V414I	Colon cancer, somatic	.	0	1499	22	1	0	24	0.00794176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.903	P	0.234	B	.	.	1.000	N	1.845	L	0.26	T	-1.006	T	0.118	T	0.026	1.611	11.34	0.689	0.186	-0.175	3.736	0.039	0.0116705615504	0.0004	0.00119808	0.0015	9.614e-05	0.0012	0.0003	0	0.0018	0.0044	0.0024	0.0013713	212	154602	rs140746006	0.0013	0.0013	0.0012	0.0014	0.0049	0.0013	0.0013	0.0034	0.0030	0.0001	0.0005	0.0114	0.0004	5.616e-05	0.0049	0.0011	0.0015	0.0026	0.0011	0.0011	0.0012	0.0009	0.0029	0.0009	0.0009	0.0018	0.0014	0.0002	0.0230	0.0007	0.0101	0.0006	0	0.0068	0.0009	0.0019	0.0029	0.096	0.35918	T	0.594	0.40110	T	0.059	0.23051	B	0.06	0.26717	B	.	.	.	.	1	0.08975	N	1.25	0.31749	L	0.26	0.59314	T	-0.62	0.18248	N	0.043	0.01825	-1.0061	0.28126	T	0.118	0.41495	T	9	0.0033520758	0.00058	T	0.011671	0.29526	T	0.039	0.10176	.	.	0.328222422547	0.32431	0.2921843347707631	0.29131	0.208503196432	0.23322	0.294899940491	0.09643	T	0.06741	0.44670	T	-0.617045	0.00115	T	-0.664977	0.07935	T	0.000985619673784683	0.00009	T	0.349965	0.09588	T	0.02441966	0.01271	0.03101305	0.01631	0.025697712	0.01537	0.03845338	0.03716	-4.763	0.37950	T	.	.	0.094	0.16451	B	.;.;.;.	.;.;.;.	-0.151438	0.03348	0.591	0.90513917160501089	0.19770	0.04068	0.09521	N	AEFDGBI	0.041382	0.06283	N	-0.968431354754305	0.09283	0.4387319	-1.0398285619423	0.08919	0.4410208	0.997113070358759	0.35288	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	0.689	0.17197	-0.159000	0.10043	.	.	-0.722000	0.03793	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2492:0.0:0.3978:0.353	3.736	0.08038	137	0.94565	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2453.98	35	chr11	48127926	.	G	A	2453.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.63;DP=928;ExcessHet=0.0000;FS=2.285;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.86;ReadPosRankSum=0.359;SOR=0.554	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1314	20	0	1	0
chr11	48145025	48145025	A	G	exonic	PTPRJ	.	nonsynonymous SNV	PTPRJ:NM_002843:exon14:c.A2812G:p.I938V,	Colon cancer, somatic	.	1	1516	5	0	0	5	0.00164636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.603	P	0.293	B	.	.	0.999	N	1.79	L	2.6	T	-1.033	T	0.034	T	0.155	3.457	17.71	2.93	0.870	2.691	4.386	0.031	0.00600387375256	.	0.000199681	0.0001	0	0.0003	0	0	0.0001	0	0.0002	9.06e-05	14	154602	rs539798846	5.267e-05	5.267e-05	4.356e-05	6.188e-05	0.0019	4.277e-05	3.952e-05	0.0011	0.0008	0	0.0002	0	0	0	0.0019	3.867e-05	0.0001	4.637e-05	5.912e-05	5.906e-05	6.427e-05	5.374e-05	0.0002	3.076e-05	2.209e-05	1.972e-05	1.124e-05	0	0	0	0	0	0	0.0136	5.88e-05	0	0.0002	0.065	0.36310	T	0.123	0.42614	T	0.603	0.39389	P	0.293	0.40773	B	.	.	.	.	1	0.08975	N	2.015	0.55033	M	2.6	0.13204	T	-0.73	0.20576	N	0.222	0.33687	-1.0328	0.19554	T	0.034	0.14813	T	9	0.070658684	0.10310	T	0.006004	0.15668	T	0.031	0.07369	0.357	0.35897	0.443999229985	0.44019	0.2925253744392469	0.29165	0.591894902042	0.54610	0.462259232998	0.33620	T	0.067974	0.48855	T	-0.424028	0.01613	T	-0.56215	0.16175	T	0.094302196925153	0.11718	T	0.731327	0.34690	T	0.033185277	0.03488	0.05544008	0.09725	0.0315177	0.03006	0.049141	0.07446	-4.723	0.33681	T	.	.	0.097	0.25592	B	.;.;.	.;.;.	2.753101	0.36087	20.2	0.98643767222501355	0.44082	0.50557	0.28690	D	AEFGBI	0.146486	0.26995	N	-0.0561968654104077	0.39326	2.317271	-0.0601032316342794	0.37056	2.164605	0.963908118140179	0.28723	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.4	2.93	0.33092	3.074000	0.49763	.	.	0.756000	0.94297	0.971000	0.34370	0.999000	0.35428	0.983000	0.59808	0.7358:0.0:0.0925:0.1717	4.386	0.10748	137	0.94565	Fibronectin type III;Fibronectin type III;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1633.98	41	chr11	48145025	.	A	G	1633.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=928;ExcessHet=0.0000;FS=0.700;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.73;ReadPosRankSum=0.082;SOR=0.809	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	20	0	1	0
chr11	48167297	48167297	A	G	exonic	PTPRJ	.	nonsynonymous SNV	PTPRJ:NM_002843:exon25:c.A3949G:p.M1317V,	Colon cancer, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.997	D	0.97	D	.	.	1.000	D	0.805	L	2.63	T	-1.131	T	0.054	T	0.317	2.630	14.75	5.19	1.968	3.181	11.428	0.116	0.0133980263143	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1410374987	1.368e-06	1.368e-06	2.723e-06	0	2.987e-05	2.3e-07	9e-08	.	.	2.987e-05	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.145	0.33109	T	0.997	0.70673	D	0.97	0.72226	D	.	.	.	.	0.700957	0.33421	D	2.34	0.67151	M	2.63	0.12884	T	-2.28	0.50830	N	0.437	0.47580	-1.1313	0.01721	T	0.054	0.23034	T	9	0.35112077	0.51969	T	0.013398	0.32774	T	0.116	0.32463	0.484	0.56621	0.508046185061	0.50445	0.6166418049000811	0.61596	0.423427627327	0.42804	0.457568287849	0.32977	T	0.09897	0.61765	T	-0.263802	0.12459	T	-0.447581	0.27964	T	0.64632385969162	0.38305	D	0.730627	0.34608	T	0.2908677	0.52073	0.28682855	0.54692	0.2908677	0.52073	0.28682855	0.54691	-8.297	0.63075	D	.	.	0.107	0.47305	B	.;.;.	.;.;.	3.561761	0.50119	22.9	0.99281051381076635	0.57903	0.89288	0.49662	D	AEFBI	0.476775	0.52005	N	0.418163666230306	0.62420	4.457726	0.435212293553346	0.63774	4.617878	0.999992606386714	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.19	5.19	0.71428	2.532000	0.45318	.	.	0.691000	0.84096	0.990000	0.36992	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	11.428	0.49268	144	0.94257	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2165.98	33	chr11	48167297	.	A	G	2165.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.050e-01;DP=858;ExcessHet=0.0000;FS=3.490;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.52;ReadPosRankSum=0.416;SOR=0.972	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1154	20	0	1	0
chr11	48264006	48264006	C	T	exonic	OR4X1	.	nonsynonymous SNV	OR4X1:NM_001004726:exon1:c.C146T:p.A49V,	.	.	429	1064	28	1	0	30	0.0139018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.016	B	0.01	B	.	.	1.000	N	0.245	N	4.05	T	-0.939	T	0.007	T	0.199	-0.498	1.715	3.37	2.363	-2.039	9.887	0.058	.	0.0024	0.00499201	0.0057	0.0004	0.0014	0	0	0.0023	0.0110	0.0307	0.004987	771	154602	rs140161944	0.0033	0.0033	0.0023	0.0043	0.0331	0.0032	0.0032	0.0321	0.0317	0.0003	0.0019	0.0004	7.562e-05	1.873e-05	0.0151	0.0014	0.0038	0.0331	0.0021	0.0021	0.0017	0.0026	0.0301	0.0019	0.0019	0.0261	0.0246	0.0002	0	0.0014	0	0	0	0.0136	0.0020	0.0047	0.0301	0.641	0.04987	T	0.749	0.04825	T	0.016	0.17332	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	-0.09	0.04745	N	4.05	0.03092	T	-0.01	0.07155	N	0.05	0.02179	-0.9392	0.42743	T	0.007	0.02399	T	9	0.0032618642	0.00056	T	.	.	.	0.058	0.16647	.	.	0.240491677333	0.23641	0.03274017999237801	0.03222	0.00236295596479	0.00204	0.209651574492	0.00796	T	0.004214	0.03621	T	-0.669274	0.00055	T	-0.709768	0.05307	T	0.00387996720140478	0.00041	T	0.265773	0.04346	T	0.08044628	0.18433	0.09165078	0.21558	0.08044628	0.18433	0.09165078	0.21558	-3.062	0.10865	T	.	.	0.094	0.14385	B	.	.	0.930220	0.13055	9.558	0.67536465930424483	0.08384	0.02843	0.07595	N	AEFBI	0.056275	0.10389	N	-0.76162368371316	0.14320	0.7123284	-0.647548850181261	0.18278	0.9757554	5.6347241608055E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.29	3.37	0.37692	-1.976000	0.01587	.	.	0.503000	0.22915	0.000000	0.06391	0.000000	0.08366	0.226000	0.22626	0.0:0.8957:0.0:0.1043	9.887	0.40439	120	0.95183	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2297.98	35	chr11	48264006	.	C	T	2297.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=925;ExcessHet=0.0000;FS=4.316;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=1.02;SOR=1.036	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1156	20	0	1	0
chr11	48306824	48306824	G	T	exonic	OR4S1	.	nonsynonymous SNV	OR4S1:NM_001004725:exon1:c.G602T:p.S201I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	.	.	0.788	N	2.285	M	1.15	T	-0.726	T	0.213	T	0.847	2.273	13.56	5.02	2.497	1.032	11.315	0.227	0.0372408866825	.	.	3.295e-05	0	0	0	0	2.997e-05	0	0.0001	2.59e-05	4	154602	rs745316345	2.257e-05	2.257e-05	1.77e-05	2.75e-05	0.0003	1.61e-05	1.416e-05	6.092e-05	2.521e-05	0	4.472e-05	0	0	0	0.0003	1.439e-05	0.0001	6.956e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0.0002	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	.	.	.	.	0.788349	0.29254	N	2.535	0.73915	M	1.15	0.38236	T	-5.23	0.83899	D	0.323	0.36359	-0.7264	0.59145	T	0.213	0.57454	T	9	0.37760204	0.53950	T	0.037241	0.57491	D	0.227	0.52620	0.673	0.81101	0.730320244711	0.72792	0.2331812634720309	0.23233	.	.	0.321426004171	0.13638	T	0.014724	0.12482	T	0.016994	0.53976	T	-0.0274619	0.68537	D	0.677811980247498	0.39689	D	0.813719	0.46699	T	0.55865026	0.70434	0.5953333	0.76507	0.55865026	0.70436	0.5953333	0.76508	-9.587	0.71400	D	.	.	0.352	0.56715	A	.	.	3.124230	0.42190	21.5	0.9954646571785426	0.70836	0.16339	0.19343	N	AEFGI	0.099548	0.20036	N	0.339880647965432	0.58208	3.991714	0.205656426893328	0.50161	3.211092	0.0274064145341215	0.13771	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.02	5.02	0.66742	1.350000	0.33615	.	.	0.646000	0.52725	0.012000	0.18695	0.000000	0.08366	0.345000	0.25546	0.0:0.0:0.8181:0.1819	11.315	0.48622	120	0.95183	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2161.98	33	chr11	48306824	.	G	T	2161.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.267e+00;DP=944;ExcessHet=0.0000;FS=1.968;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.43;ReadPosRankSum=0.430;SOR=0.890	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1197	20	0	1	0
chr11	48325134	48325134	G	T	exonic	OR4C3	.	nonsynonymous SNV	OR4C3:NM_001004702:exon1:c.G113T:p.C38F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.0	B	0.0	B	0.988	N	1.000	N	-0.515	N	7.38	T	-0.996	T	0.001	T	0.197	1.233	9.998	-0.006	0.366	0.484	10.336	0.062	0.00203501191793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	0.0	0.02946	B	0.0	0.01387	B	0.988182	0.07885	N	1.006700	1	0.08975	N	-0.205	0.04094	N	.	.	.	.	.	.	.	.	-0.9959	0.31055	T	0.001	0.00222	T	10	0.10815245	0.20120	T	0.002035	0.03695	T	0.062	0.17934	0.368	0.37687	0.0297737177859	0.01360	0.15088954134826085	0.15010	.	.	0.272381722927	0.06454	T	0.006964	0.06384	T	-0.313789	0.07419	T	-0.688512	0.06476	T	0.0346704241757854	0.02752	T	0.59564	0.22935	T	0.07087094	0.15646	0.15276611	0.35927	0.07087094	0.15646	0.15276611	0.35926	-2.908	0.09223	T	.	.	0.076	0.09530	B	.;.	.;.	0.256508	0.06355	2.816	0.89155257924785769	0.18557	0.02520	0.07022	N	AEFDI	0.032196	0.03589	N	-0.904975036333668	0.10724	0.5139144	-0.8211901409002	0.13982	0.7282579	1.47688647240769E-4	0.05573	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.88	-0.00616	0.13338	0.715000	0.25493	.	.	-0.267000	0.06790	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.1117:0.3472:0.5411	10.336	0.43030	120	0.95183	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	273.98	34	chr11	48325134	.	G	T	273.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.962e+00;DP=823;ExcessHet=0.0000;FS=67.661;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.11;ReadPosRankSum=3.16;SOR=5.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1193	20	0	1	0
chr11	48325136	48325136	G	T	exonic	OR4C3	.	nonsynonymous SNV	OR4C3:NM_001004702:exon1:c.G115T:p.G39C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.993	D	0.963	D	0.004	N	0.726	D	4.08	H	3.62	T	-0.659	T	0.090	T	0.496	3.892	19.78	5.88	2.829	2.581	13.470	0.202	0.00762967362043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.993	0.65571	D	0.963	0.70837	D	0.004400	0.33795	N	0.135551	0.726055	0.33668	D	3.325	0.90780	M	.	.	.	.	.	.	.	.	-0.6588	0.62329	T	0.090	0.34601	T	10	0.7379098	0.74750	D	0.00763	0.20246	T	0.202	0.48754	0.812	0.92788	0.137902524267	0.13322	0.3695892951469525	0.36872	.	.	0.358589351177	0.19180	T	0.11336	0.43034	T	-0.0959298	0.37096	T	-0.375573	0.36240	T	0.993962824344635	0.84996	D	0.852615	0.53799	D	0.16444537	0.36653	0.13581161	0.32507	0.16444537	0.36653	0.13581161	0.32506	-10.742	0.78224	D	.	.	0.216	0.48479	B	.;.	.;.	3.085844	0.41532	21.4	0.996636946402638	0.78138	0.44928	0.27426	N	AEFDI	0.244813	0.36585	N	0.720050453314793	0.80945	7.408589	0.584784929766581	0.73849	6.038173	0.309006433027718	0.19267	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.88	5.88	0.94564	1.922000	0.39675	.	.	0.542000	0.25261	0.020000	0.19661	1.000000	0.68203	0.001000	0.02609	0.0:0.1568:0.8432:0.0	13.470	0.60731	120	0.95183	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	273.98	34	chr11	48325136	.	G	T	273.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.335e+00;DP=822;ExcessHet=0.0000;FS=67.661;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.11;ReadPosRankSum=3.13;SOR=5.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1193	20	0	1	0
chr11	49034211	49034211	T	G	exonic	TRIM49B	.	nonsynonymous SNV	TRIM49B:NM_001206626:exon4:c.T573G:p.H191Q,	.	.	555	965	2	0	0	2	0.0010352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	.	.	.	.	.	.	1.000	N	2.195	M	3.63	T	-0.957	T	0.018	T	0.087	-0.191	3.070	-1.38	-0.437	-0.387	.	0.054	0.0023235036798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	2.052e-06	0	4.132e-06	0.0005	5.5e-07	1.5e-07	8.516e-05	3.547e-05	0	0	0	0	0	0.0005	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	0.12920	T	0.203	0.27325	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.44	0.36004	L	3.63	0.04353	T	-2.45	0.53577	N	0.16	0.16725	-0.9574	0.39662	T	0.018	0.07518	T	6	0.10346818	0.19022	T	0.002324	0.04479	T	0.054	0.15330	0.571	0.69431	0.0482279557977	0.04254	0.011179449716623784	0.01077	1.77852846044	0.91373	0.588129758835	0.51229	T	0.074669	0.34994	T	-0.382476	0.03006	T	-0.787177	0.02243	T	0.0614861522662565	0.07400	T	0.380262	0.09172	T	0.13900717	0.32127	0.14321564	0.34043	0.13900717	0.32127	0.14321564	0.34042	-4.523	0.31188	T	.	.	0.116	0.23465	B	.;.	.;.	-0.609357	0.01547	0.101	0.46413849297317122	0.03716	0.00081	0.00551	N	AEFI	0.019368	0.00666	N	-0.869148266123517	0.11581	0.5596946	-1.13919058220606	0.06963	0.3370097	1.53334039614145E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.689	-1.38	0.08554	-1.763000	0.01900	.	.	0.311000	0.19140	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	190	0.92594	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	2493.33	37	chr11	49034211	.	T	G	2493.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.01;DP=1145;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=56.30;MQRankSum=0.818;QD=12.47;ReadPosRankSum=0.365;SOR=0.733	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	19	0	1	1
chr11	49192828	49192828	G	C	exonic	FOLH1	.	nonsynonymous SNV	FOLH1:NM_001014986:exon4:c.C478G:p.P160A	.	.	463	1054	5	0	0	5	0.0023663	.	.	712871	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	0.917	P	0.657	P	0.000	D	1.000	D	2.52	M	1.03	T	-0.653	T	0.189	T	0.477	3.371	17.36	3.45	1.781	8.457	12.517	0.279	0.0334816123843	0.0015	0.000998403	0.0035	0.0002	0.0022	0	0.0079	0.0047	0.0033	0.0017	0.0006145	95	154602	rs138510346	0.0039	0.0042	0.0040	0.0037	0.0043	0.0038	0.0037	0.0042	0.0042	0.0005	0.0013	3.852e-05	2.537e-05	0.0086	0.0016	0.0043	0.0030	0.0013	0.0032	0.0032	0.0033	0.0031	0.0046	0.0029	0.0028	0.0042	0.0040	0.0007	0	0.0026	0	0	0.0083	0.0034	0.0046	0.0043	0.0012	0.015	0.52492	D	0.015	0.64786	D	0.075	0.50750	B	0.038	0.52725	B	0.000156	0.49130	D	0.000000	1	0.81001	D	2.825	0.82220	M	1.03	0.40469	T	-6.94	0.93440	D	0.838	0.83371	-0.6533	0.62570	T	0.189	0.53945	T	10	0.018302143	0.00397	T	0.033482	0.55009	D	0.279	0.59619	.	.	0.683316155328	0.68061	0.6973406176964458	0.69675	0.569308612202	0.53113	0.521155118942	0.41788	T	0.55239	0.84867	D	-0.347778	0.04868	T	-0.270001	0.47818	T	0.132768351035852	0.15636	T	0.783622	0.43226	T	0.76210475	0.81577	0.4250139	0.66323	0.76210475	0.81579	0.4250139	0.66323	-8.787	0.67161	D	.	.	0.108	0.24767	B	.;.;.;.	.;.;.;.	3.596932	0.50782	23.0	0.98679965718486551	0.44596	0.97944	0.78319	D	AEFI	0.898715	0.84230	D	0.325325132468063	0.57451	3.912528	0.336023360209232	0.57668	3.933618	0.373759461738529	0.19895	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.45	3.45	0.38602	8.626000	0.90739	.	.	0.458000	0.21545	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:1.0:0.0	12.517	0.55385	199	0.92292	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	954.98	33	chr11	49192828	.	G	C	954.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.34;DP=807;ExcessHet=0.0000;FS=4.777;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=50.23;MQRankSum=-6.592e+00;QD=8.45;ReadPosRankSum=-1.724e+00;SOR=1.179	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1114	20	0	1	0
chr11	49981809	49981809	C	G	exonic	OR4C12	.	nonsynonymous SNV	OR4C12:NM_001005270:exon1:c.G693C:p.R231S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.319	B	0.513	P	0.000	U	1.000	N	2.915	M	8.15	T	-1.020	T	0.001	T	0.413	1.865	12.19	1.05	0.607	-0.865	4.568	0.082	0.00101041932848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.375e-06	7.527e-06	1.367e-06	1.382e-06	1.807e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.807e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.004	0.74150	D	0.319	0.32965	B	0.513	0.47989	P	0.000281	0.46590	U	0.000000	0.999892	0.19781	N	3.385	0.91502	M	8.15	0.00286	T	-5.47	0.85617	D	0.443	0.48134	-1.0201	0.23682	T	0.001	0.00467	T	10	0.2346729	0.40512	T	0.00101	0.01096	T	0.082	0.23913	0.546	0.66015	0.208816687407	0.20498	0.25538346230412046	0.25452	0.0143582820659	0.01365	0.280902445316	0.07618	T	0.00991	0.08988	T	-0.164013	0.26145	T	-0.47337	0.25154	T	0.979287505149841	0.72753	D	.	.	.	0.73349935	0.79921	0.5844385	0.75904	0.73349935	0.79923	0.5844385	0.75904	-7.463	0.57350	T	.	.	0.227	0.45966	B	.	.	2.022533	0.25704	16.86	0.99082414752547343	0.52002	0.03228	0.08240	N	AEFI	0.047257	0.07937	N	-0.277187101321075	0.30032	1.670798	-0.409429265658249	0.24720	1.355288	1.23947310401179E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.98	1.05	0.19280	-1.007000	0.03777	.	.	0.260000	0.18395	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.0:0.574:0.0:0.426	4.568	0.11590	224	0.91330	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.03333	125.78	91	chr11	49981809	.	C	G	125.78	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-2.363e+00;DP=1722;ExcessHet=0.0000;FS=278.882;InbreedingCoeff=-0.1173;MLEAC=1;MLEAF=0.033;MQ=60.00;MQRankSum=0.00;QD=1.38;ReadPosRankSum=2.72;SOR=8.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:65,0:65:73:.:.:0,73,1567	14	0	1	6
chr11	50033039	50033039	C	T	exonic	OR4C45	.	unknown	UNKNOWN,	.	.	434	1068	20	0	0	20	0.00927644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1365494271	0.0029	0.0023	0.0028	0.0030	0.0047	0.0029	0.0028	0.0043	0.0041	0.0006	0.0014	0.0092	0	0.0016	0.0046	0.0029	0.0028	0.0047	0.0022	0.0022	0.0019	0.0025	0.0041	0.0020	0.0019	0.0027	0.0024	0.0005	0	0.0027	0.0084	0.0002	0.0017	0.0136	0.0029	0.0019	0.0041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3605.11	137	chr11	50033039	.	C	T	3605.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.93;DP=1494;ExcessHet=0.1072;FS=0.461;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.93;MQRankSum=0.00;QD=14.31;ReadPosRankSum=0.350;SOR=0.654	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1507	19	0	2	0
chr11	50033090	50033090	G	A	exonic	OR4C45	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1240229060	6.162e-05	5.016e-05	4.288e-05	8.101e-05	0.0009	4.953e-05	4.513e-05	0.0007	0.0007	0	0	0	0	0	0	0	5.283e-05	0.0009	1.971e-05	1.969e-05	0	4.031e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.003e-05	0	0	0	0	0	0	0	0	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2348.98	36	chr11	50033090	.	G	A	2348.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.774e+00;DP=1021;ExcessHet=0.0000;FS=1.174;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=0.275;SOR=0.595	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1507	20	0	1	0
chr11	54603089	54603089	C	T	exonic	OR4C46	.	nonsynonymous SNV	OR4C46:NM_001004703:exon1:c.G910A:p.D304N,	.	.	453	1051	17	1	0	19	0.00895804	.	.	2816629	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.01	B	0.042	B	0.526	U	1.000	N	0	N	9.8	T	-1.107	T	0.000	T	0.164	0.238	5.285	-0.354	0.225	-0.151	7.029	0.025	0.00157362683264	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs140000110	0.0060	0.0065	0.0057	0.0063	0.0165	0.0059	0.0059	0.0138	0.0127	0.0008	0.0048	0.0130	5.128e-05	0.0065	0.0165	0.0059	0.0063	0.0098	0.0054	0.0054	0.0048	0.0060	0.0090	0.0051	0.0050	0.0072	0.0068	0.0011	0.0011	0.0084	0.0144	0.0002	0.0084	0.0102	0.0065	0.0081	0.0090	0.39	0.10838	T	0.451	0.12920	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.87	0.00001	T	0.17	0.05125	N	0.131	0.12627	.	.	.	.	.	.	.	0.0062384605	0.00141	T	.	.	.	.	.	.	.	.	.	0.4223016064214664	0.42147	.	.	.	.	.	0.003407	0.02809	T	.	.	.	.	.	.	.	.	.	0.050295	0.00357	T	.	.	.	.	.	.	.	.	-2.146	0.03787	T	.	.	0.070	0.03661	B	.	.	0.570553	0.09389	6.171	.	.	.	.	.	.	0.042909	0.06716	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.600000	0.02186	.	.	0.217000	0.18040	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1450.98	116	chr11	54603089	.	C	T	1450.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.15;DP=1930;ExcessHet=0.0000;FS=0.591;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.55;MQRankSum=-6.450e+00;QD=8.85;ReadPosRankSum=0.431;SOR=0.746	GT:AD:DP:GQ:PL	0/0:137,0:137:99:0,120,1800	20	0	1	0
chr11	54603676	54603676	G	A	exonic	OR4C46	.	nonsynonymous SNV	OR4C46:NM_001004703:exon1:c.C323T:p.A108V,	.	.	428	1078	15	1	0	17	0.00782329	.	.	2816628	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.768	P	0.461	P	0.182	N	1.000	N	3.135	M	5.61	T	-1.018	T	0.007	T	0.484	-0.071	3.652	0.648	0.458	-0.978	4.674	0.109	0.00083339266817	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs141105102	0.0073	0.0073	0.0075	0.0071	0.0108	0.0072	0.0072	0.0086	0.0081	0.0025	0.0031	0.0033	2.519e-05	0.0101	0.0108	0.0083	0.0055	0.0028	0.0058	0.0058	0.0061	0.0054	0.0079	0.0054	0.0053	0.0074	0.0072	0.0023	0.0440	0.0029	0.0014	0	0.0113	0.0170	0.0079	0.0043	0.0035	0.502	0.07695	T	0.69	0.05920	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.94	0.00616	T	-1.59	0.38345	N	0.051	0.02272	.	.	.	.	.	.	.	0.0044759214	0.00092	T	.	.	.	.	.	.	.	.	.	0.839252078042215	0.83885	.	.	.	.	.	0.005303	0.04751	T	.	.	.	.	.	.	.	.	.	0.50065	0.15660	T	.	.	.	.	.	.	.	.	-5.348	0.40415	T	.	.	0.100	0.17189	B	.	.	0.743669	0.11133	7.775	.	.	.	.	.	.	0.027643	0.02294	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.014000	0.12594	.	.	-1.045000	0.01654	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1868.98	119	chr11	54603676	.	G	A	1868.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.955e+00;DP=2315;ExcessHet=0.0000;FS=4.960;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.62;MQRankSum=-8.600e-02;QD=13.16;ReadPosRankSum=0.360;SOR=0.821	GT:AD:DP:GQ:PL	0/0:146,0:146:99:0,120,1800	20	0	1	0
chr11	55554765	55554765	G	T	exonic	OR4C15	.	nonsynonymous SNV	OR4C15:NM_001001920:exon1:c.G297T:p.Q99H,	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	N	4.21	H	7.19	T	-1.130	T	0.007	T	0.738	2.616	14.71	-4.14	-0.736	-0.028	7.823	0.189	.	.	0.00339457	0.0011	0	8.682e-05	0	0	1.499e-05	0	0.0082	0.0010479	162	154602	rs184437553	0.0005	0.0005	0.0003	0.0007	0.0080	0.0005	0.0005	0.0075	0.0073	2.988e-05	0	0	0	0	0.0005	9.893e-06	0.0004	0.0080	0.0003	0.0003	0.0001	0.0004	0.0089	0.0002	0.0002	0.0068	0.0061	0	0	0	0	0	0	0	0	0	0.0089	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999961	0.18878	N	3.875	0.95948	H	7.19	0.00436	T	-4.91	0.81595	D	0.599	0.61764	-1.1303	0.01768	T	0.007	0.02321	T	9	0.006790757	0.00154	T	.	.	.	0.189	0.46613	0.559	0.67821	0.355865052028	0.35192	0.37778764640709717	0.37693	.	.	0.324215501547	0.14058	T	.	.	.	-0.336128	0.05661	T	-0.250051	0.49812	T	0.339203419742848	0.26592	T	0.863614	0.55989	D	0.13918972	0.32161	0.21557908	0.46152	0.13918972	0.32161	0.21557908	0.46151	-9.465	0.70641	D	.	.	0.774	0.76103	P	.;.	.;.	1.948595	0.24753	16.51	0.99238533778407345	0.56469	0.11286	0.16533	N	AEFI	0.078134	0.15758	N	-0.0710765434837261	0.38665	2.268065	-0.418310716788469	0.24460	1.339542	7.52482475400162E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.12	-4.14	0.03628	-0.310000	0.08175	-5.365000	0.01746	0.485000	0.22221	0.000000	0.06391	0.000000	0.08366	0.985000	0.61073	0.4776:0.1069:0.4156:0.0	7.823	0.28460	145	0.94217	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1066.98	135	chr11	55554765	.	G	T	1066.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.340e-01;DP=1754;ExcessHet=0.0000;FS=0.700;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.20;ReadPosRankSum=2.42;SOR=0.653	GT:AD:DP:GQ:PL	0/0:174,0:174:99:0,120,1800	20	0	1	0
chr11	55638461	55638461	C	T	exonic	OR4P4	.	nonsynonymous SNV	OR4P4:NM_001004124:exon1:c.C104T:p.A35V,	.	.	557	963	2	0	0	2	0.00103734	.	.	2763608	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.054	B	0.082	B	0.023	N	1.000	N	0.42	N	8.55	T	-0.969	T	0.000	T	0.093	0.693	7.701	0.678	0.504	-0.284	4.652	0.034	0.00162862679163	8.1e-05	.	0.0003	0	0	0.0001	0	3.271e-05	0.0038	0.0017	0.000207	32	154602	rs371576683	0.0002	0.0001	0.0001	0.0002	0.0021	0.0001	0.0001	0.0019	0.0018	0	2.708e-05	0	8.713e-05	0	0.0010	1.679e-05	0.0001	0.0021	5.812e-05	5.614e-05	0	0.0001	0.0017	2.795e-05	2.102e-05	0.0008	0.0006	0	0	0	0	0	0	0	1.611e-05	0	0.0017	0.326	0.13306	T	0.536	0.09897	T	0.054	0.22658	B	0.082	0.29098	B	0.023325	0.26463	N	0.183295	1	0.08975	N	-0.01	0.05129	N	8.55	0.00189	T	-1.45	0.35597	N	0.083	0.05929	-0.9690	0.37407	T	0.000	0.00075	T	10	0.008223385	0.00187	T	0.001629	0.02651	T	0.034	0.08419	.	.	0.137902524267	0.13322	0.05217044861045167	0.05159	0.0201724654036	0.01977	0.20047198236	0.00471	T	0.004888	0.04311	T	-0.567426	0.00229	T	-0.768131	0.02830	T	0.0168446132127247	0.00438	T	0.687731	0.29668	T	0.048258316	0.08383	0.039658137	0.04108	0.048258316	0.08383	0.039658137	0.04108	-2.187	0.03978	T	.	.	0.117	0.24666	B	.;.	.;.	0.235757	0.06164	2.613	0.95358136655979897	0.26752	0.00196	0.01131	N	AEFI	0.020739	0.00849	N	-1.08070441948049	0.06998	0.3238466	-1.06341315249226	0.08429	0.4144384	1.91348358636724E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.02	0.678	0.17136	-1.004000	0.03789	-12.043000	0.00555	0.522000	0.23927	0.000000	0.06391	0.000000	0.08366	0.734000	0.35233	0.0:0.3824:0.3657:0.2518	4.652	0.11986	151	0.94052	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05	3692.8	35	chr11	55638461	.	C	T	3692.8	.	AC=2;AF=0.050;AN=40;DP=776;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.050;MQ=60.00;QD=31.83;SOR=1.188	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1070	19	1	0	1
chr11	55773447	55773447	T	C	exonic	OR5D13	.	nonsynonymous SNV	OR5D13:NM_001001967:exon1:c.T10C:p.S4P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.001	B	0.003	B	.	.	1.000	N	0.405	N	8.27	T	-1.054	T	0.000	T	0.1	0.456	6.474	0.574	0.338	-1.932	4.447	0.016	0.000542975102324	.	0.000199681	0.0003	0	0	0	0	4.655e-05	0	0.0025	0.0002458	38	154602	rs535209299	0.0002	0.0002	9.523e-05	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	0	9.977e-05	0	0	0	0.0018	1.449e-05	0.0002	0.0022	9.196e-05	9.186e-05	6.427e-05	0.0001	0.0021	5.526e-05	4.364e-05	0.0011	0.0009	0	0	0.0002	0	0	0	0	0	0.0005	0.0021	.	.	.	.	.	.	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.505	0.13445	N	.	.	.	.	.	.	.	.	-1.0540	0.13305	T	0.000	0.00152	T	9	0.0087068975	0.00197	T	5.43E-4	0.00196	T	.	.	0.202	0.11659	.	.	0.06268764927973496	0.06208	.	.	0.356713056564	0.18907	T	0.003505	0.02909	T	-0.694401	0.00039	T	-0.776403	0.02564	T	0.00613445525996514	0.00068	T	0.0831917	0.00611	T	0.07236371	0.16091	0.08958352	0.20957	0.07236371	0.16091	0.08958352	0.20957	-4.283	0.27938	T	.	.	0.074	0.05231	B	.	.	0.031165	0.04500	1.207	0.66974687784790032	0.08217	0.00872	0.03453	N	AEFI	0.029407	0.02768	N	-1.13982037760807	0.05949	0.2726006	-1.18786447026973	0.06111	0.2931922	1.14273383866497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.15	0.574	0.16553	-1.193000	0.03158	-3.548000	0.02704	0.478000	0.22058	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.1333:0.2171:0.6495	4.447	0.11024	154	0.93967	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1769.98	33	chr11	55773447	.	T	C	1769.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.323e+00;DP=846;ExcessHet=0.0000;FS=3.509;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.16;ReadPosRankSum=0.818;SOR=0.407	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1428	20	0	1	0
chr11	55773543	55773543	G	A	exonic	OR5D13	.	nonsynonymous SNV	OR5D13:NM_001001967:exon1:c.G106A:p.V36I,	.	.	435	991	89	7	0	103	0.0494005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.001	B	0.860	N	1.000	N	-0.37	N	7.44	T	-0.999	T	0.000	T	0.023	-1.392	0.024	-4.35	-0.957	-1.802	4.036	0.004	.	0.0094	0.0071885	0.0094	0.0038	0.0055	0.0002	0.0029	0.0124	0.0165	0.0105	0.0093078	1439	154602	rs147031394	0.0096	0.0096	0.0093	0.0099	0.0541	0.0095	0.0094	0.0492	0.0472	0.0040	0.0080	0.0194	2.52e-05	0.0024	0.0541	0.0099	0.0116	0.0108	0.0090	0.0090	0.0092	0.0087	0.0143	0.0086	0.0084	0.0128	0.0122	0.0041	0	0.0143	0.0214	0.0002	0.0018	0.0408	0.0115	0.0133	0.0123	.	.	.	.	.	.	0.002	0.09854	B	0.001	0.04355	B	0.859837	0.08903	N	0.894418	1	0.08975	N	-1.24	0.00794	N	.	.	.	.	.	.	.	.	-0.9992	0.30143	T	0.000	0.00075	T	10	0.0063220263	0.00143	T	.	.	.	.	.	.	.	.	.	0.026461992922624716	0.02596	.	.	0.204620480537	0.00603	T	9.57E-4	0.00501	T	-0.821085	0.00005	T	-0.94182	0.00289	T	0.00201569703242085	0.00021	T	0.758424	0.38228	T	0.03243204	0.03267	0.031081052	0.01648	0.03243204	0.03267	0.031081052	0.01647	-1.204	0.01256	T	.	.	0.070	0.03625	B	.	.	-1.707520	0.00192	0.003	0.086283404533563965	0.00071	0.00206	0.01180	N	AEFI	0.014591	0.00239	N	-1.7650134367774	0.00637	0.02745338	-1.79490174311532	0.00776	0.03459685	1.58383268683026E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.52	-4.35	0.03402	-2.708000	0.00890	-10.712000	0.00673	-2.110000	0.00390	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3984:0.0:0.342:0.2596	4.036	0.09214	154	0.93967	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1916.98	33	chr11	55773543	.	G	A	1916.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=997;ExcessHet=0.0000;FS=0.557;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.83;ReadPosRankSum=-8.930e-01;SOR=0.645	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1428	20	0	1	0
chr11	55888207	55888207	G	A	exonic	TRIM51	.	nonsynonymous SNV	TRIM51:NM_032681:exon4:c.G683A:p.G228E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.303	B	0.085	B	.	.	1.000	N	1.53	L	3.7	T	-0.941	T	0.009	T	0.098	-2.024	0.006	-0.646	-0.155	0.207	3.151	0.014	0.000989934768874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.12246	T	0.303	0.32643	B	0.085	0.29395	B	.	.	.	.	1	0.08975	N	1.275	0.32135	L	3.7	0.04079	T	-0.24	0.36189	N	0.05	0.03841	-0.9412	0.42426	T	0.009	0.03403	T	9	0.044476718	0.03409	T	9.9E-4	0.01050	T	0.014	0.01968	0.346	0.34112	0.124217242631	0.12060	0.05937135007338447	0.05877	0.185589099654	0.20870	0.533439993858	0.43520	T	0.005372	0.04821	T	-0.368282	0.03682	T	-0.766788	0.02875	T	0.0818083356579155	0.10218	T	0.492351	0.18877	T	0.04562816	0.07501	0.06680091	0.13734	0.04562816	0.07501	0.06680091	0.13734	-3.587	0.17669	T	.	.	0.128	0.27192	B	.;.	.;.	-0.233524	0.02923	0.426	0.21573073719521005	0.00828	0.00042	0.00346	N	AEFI	0.024269	0.01474	N	-1.13034707264578	0.06109	0.2803565	-1.26178230555701	0.04959	0.2351719	1.17597556729356E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.757	-0.646	0.10895	-0.153000	0.10130	-4.875000	0.01946	-0.407000	0.05276	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3738:0.0:0.6262:0.0	3.151	0.06099	163	0.93656	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	965.98	34	chr11	55888207	.	G	A	965.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.301;DP=773;ExcessHet=0.0000;FS=1.891;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=-9.120e-01;SOR=0.969	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1304	20	0	1	0
chr11	55967707	55967707	G	A	exonic	OR10AG1	.	nonsynonymous SNV	OR10AG1:NM_001005491:exon1:c.C757T:p.P253S,	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.959	D	0.856	P	0.001	N	1.000	N	1.9	L	8.4	T	-0.733	T	0.001	T	0.306	3.181	16.65	5.37	2.569	3.273	16.768	0.241	0.00515147239751	.	.	8.255e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs745854593	5.473e-06	5.472e-06	5.446e-06	5.501e-06	0.0003	2.35e-06	1.7e-06	6.094e-05	2.522e-05	0	0	0	2.519e-05	0	0.0003	3.598e-06	0	1.159e-05	6.575e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.072	0.34982	T	0.066	0.44501	T	0.959	0.55135	D	0.856	0.61001	P	0.001175	0.39978	N	0.114382	1	0.08975	N	1.89	0.50145	L	8.4	0.00240	T	-7.28	0.94430	D	0.349	0.39052	-0.7328	0.58822	T	0.001	0.00467	T	10	0.41736576	0.56632	T	0.005151	0.13094	T	0.241	0.54641	.	.	0.54285271628	0.53938	0.054567269616721537	0.05398	0.196285667944	0.21984	0.244591832161	0.03220	T	0.015683	0.13108	T	-0.331774	0.05978	T	-0.545219	0.17788	T	0.981577813625336	0.73989	D	0.660634	0.26999	T	0.3386107	0.56169	0.40913397	0.65211	0.3386107	0.56169	0.40913397	0.65211	-6.906	0.53343	T	.	.	0.125	0.29422	B	.;.	.;.	3.821174	0.55171	23.6	0.99842241000849385	0.92229	0.40838	0.26525	N	AEFI	0.082419	0.16688	N	0.422180208252588	0.62642	4.483662	0.363723869528391	0.59337	4.110849	0.00104052622135994	0.08148	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.37	5.37	0.76949	1.004000	0.29423	2.821000	0.34963	0.495000	0.22486	0.001000	0.13787	0.369000	0.24559	0.961000	0.51904	0.0:0.0:1.0:0.0	16.768	0.85389	161	0.93754	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1651.98	37	chr11	55967707	.	G	A	1651.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.180e-01;DP=1152;ExcessHet=0.0000;FS=0.724;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.30;ReadPosRankSum=0.500;SOR=0.587	GT:AD:DP:GQ:PL	0/0:90,0:90:99:0,120,1800	20	0	1	0
chr11	55994391	55994391	G	A	exonic	OR5F1	.	nonsynonymous SNV	OR5F1:NM_003697:exon1:c.C235T:p.P79S,	.	.	430	1052	40	0	0	40	0.0186567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	D	3.755	H	4.6	T	-1.059	T	0.024	T	0.656	2.830	15.42	3.03	1.422	8.704	12.892	0.341	.	0.0025	0.00339457	0.0045	0.0010	0.0032	0	0.0006	0.0044	0.0088	0.0115	0.0041461	641	154602	rs144123172	0.0036	0.0036	0.0033	0.0039	0.0125	0.0035	0.0035	0.0114	0.0111	0.0006	0.0028	0.0146	0	0.0005	0.0125	0.0030	0.0044	0.0120	0.0031	0.0031	0.0032	0.0030	0.0098	0.0029	0.0028	0.0075	0.0067	0.0008	0	0.0046	0.0115	0.0002	0.0003	0	0.0040	0.0038	0.0098	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999765	0.48888	D	3.415	0.91848	M	4.6	0.01868	T	-7.33	0.94566	D	0.434	0.47301	-1.0590	0.12007	T	0.024	0.10013	T	9	0.008101344	0.00184	T	.	.	.	0.341	0.66297	.	.	0.553913597673	0.55050	0.32035287559718434	0.31948	0.0793572366355	0.08926	0.259348064661	0.04813	T	0.044532	0.26845	T	-0.320121	0.06888	T	-0.22222	0.52522	T	0.0579174086102847	0.06836	T	0.908909	0.67748	D	0.80138326	0.83994	0.58413935	0.75887	0.80138326	0.83995	0.58413935	0.75888	-8.388	0.63686	D	.	.	0.386	0.58785	A	.	.	3.739859	0.53550	23.4	0.99841104463419506	0.92143	0.99097	0.91181	D	AEFI	0.600502	0.59311	D	0.645069260386401	0.76049	6.415539	0.446268625743228	0.64478	4.703868	0.893234601683298	0.25901	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.03	3.03	0.34070	6.955000	0.75805	3.671000	0.39437	0.312000	0.19173	1.000000	0.71638	1.000000	0.68203	0.271000	0.23793	0.0:0.0:1.0:0.0	12.892	0.57469	161	0.93754	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1994.98	67	chr11	55994391	.	G	A	1994.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.59;DP=1355;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.10;MQRankSum=0.262;QD=15.46;ReadPosRankSum=-1.840e-01;SOR=0.712	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,102,1530	20	0	1	0
chr11	56123007	56123007	T	C	exonic	OR8H3	.	nonsynonymous SNV	OR8H3:NM_001005201:exon1:c.T635C:p.I212T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.003	B	0.019	B	0.011	N	1.000	N	0.97	L	1.07	T	-1.036	T	0.068	T	0.056	-0.424	2.024	0.989	-0.035	-0.163	5.830	0.036	0.00108051163537	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.31235	T	0.106	0.37872	T	0.003	0.11197	B	0.019	0.18783	B	0.010984	0.29704	N	0.239986	1	0.08975	N	0.975	0.24501	L	1.07	0.39586	T	-2.84	0.59873	D	0.046	0.01825	-1.0360	0.18544	T	0.068	0.27947	T	10	0.09700182	0.17439	T	0.001081	0.01263	T	0.036	0.09122	0.61	0.74300	0.297718772494	0.29385	0.06401356579096566	0.06340	0.0417714676067	0.04490	0.233906298876	0.02269	T	0.015925	0.13262	T	-0.329562	0.06144	T	-0.711169	0.05235	T	0.163393467664719	0.18119	T	0.30177	0.05696	T	0.07866515	0.17928	0.089174464	0.20836	0.07866515	0.17928	0.089174464	0.20836	-4.781	0.34369	T	.	.	0.121	0.25100	B	.	.	0.967745	0.13443	9.955	0.8201356368128514	0.13974	0.03080	0.07997	N	AEFI	0.033067	0.03853	N	-0.8785813874454	0.11353	0.5474319	-0.87931558658662	0.12584	0.6481952	1.22526348213405E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.62	0.989	0.18920	-0.288000	0.08412	.	.	0.316000	0.19262	0.000000	0.06391	0.000000	0.08366	0.073000	0.16832	0.0:0.089:0.3181:0.5929	5.830	0.17830	156	0.93906	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	4640.98	39	chr11	56123007	.	T	C	4640.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.181;DP=2340;ExcessHet=0.0000;FS=2.829;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.81;MQRankSum=-1.055e+00;QD=12.86;ReadPosRankSum=-3.560e-01;SOR=0.553	GT:AD:DP:GQ:PL	0/1:185,176:361:99:4655,0,4931	20	0	1	0
chr11	56319187	56319187	A	C	exonic	OR8K3	.	nonsynonymous SNV	OR8K3:NM_001005202:exon1:c.A881C:p.K294T,	.	.	.	.	.	.	.	.	.	.	.	3363838	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.216	B	0.191	B	0.008	N	0.917	N	2.375	M	0.9	T	-0.837	T	0.148	T	0.391	0.813	8.271	4.18	1.888	2.595	12.487	0.162	0.00601464091088	.	.	0.0002	0	8.794e-05	0	0	0	0.0011	0.0012	0.0001423	22	154602	rs772916448	9.378e-05	9.508e-05	4.495e-05	0.0001	0.0015	8.097e-05	7.589e-05	0.0013	0.0012	0	4.474e-05	0	0	0	0.0002	1.8e-06	9.939e-05	0.0015	2.628e-05	2.627e-05	0	5.378e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	.	.	.	.	.	.	0.216	0.30161	B	0.191	0.36391	B	0.008122	0.31003	N	0.226639	0.917463	0.27371	N	2.16	0.60381	M	.	.	.	.	.	.	.	.	-0.8370	0.52845	T	0.148	0.47433	T	10	0.031024039	0.01233	T	0.006015	0.15698	T	.	.	0.418	0.45873	.	.	0.13748112576444046	0.13672	.	.	0.19005921483	0.00226	T	0.019516	0.15537	T	-0.420749	0.01691	T	-0.412532	0.31934	T	0.174693159218916	0.18894	T	0.630437	0.24556	T	0.36264455	0.58037	0.39485955	0.64169	0.36264455	0.58037	0.39485955	0.64169	-6.629	0.51274	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	3.200658	0.43526	21.7	0.98987641963286221	0.49861	0.92765	0.56491	D	AEFBI	0.248175	0.36862	N	-0.0627516097519068	0.39034	2.295548	-0.0468265495142603	0.37628	2.205737	1.33589702258011E-4	0.05486	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.18	4.18	0.48473	1.782000	0.38284	.	.	0.672000	0.70159	0.623000	0.27939	0.007000	0.19602	0.250000	0.23263	1.0:0.0:0.0:0.0	12.487	0.55220	189	0.92630	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2222.11	37	chr11	56319187	.	A	C	2222.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.990;DP=931;ExcessHet=0.1072;FS=3.338;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=1.48;SOR=0.944	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	19	0	2	0
chr11	56346906	56346906	A	G	exonic	OR8K1	.	nonsynonymous SNV	OR8K1:NM_001002907:exon1:c.A868G:p.M290V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.733	P	0.081	B	0.000	D	1.000	N	1.575	L	1.23	T	-0.981	T	0.057	T	0.361	0.754	7.996	3.88	0.756	0.829	4.668	0.076	0.00487757422009	.	.	2.477e-05	0	0	0	0	1.502e-05	0	0.0001	2.59e-05	4	154602	rs750177755	1.984e-05	1.984e-05	1.906e-05	2.063e-05	0.0001	1.392e-05	1.204e-05	7.999e-05	6.237e-05	0	0	0	0	0	0	1.439e-05	1.656e-05	0.0001	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.045	0.40832	D	0.013	0.63109	D	0.733	0.42736	P	0.081	0.28987	B	0.000012	0.62929	D	0.000000	1	0.08975	N	2.055	0.56616	M	1.23	0.36872	T	-3.48	0.67941	D	0.229	0.25745	-0.9814	0.34678	T	0.057	0.23828	T	10	0.09685162	0.17402	T	0.004878	0.12255	T	0.076	0.22200	0.439	0.49321	0.299770980665	0.29595	0.13065554007477065	0.12990	0.0177545150975	0.01741	0.197076112032	0.00377	T	0.007618	0.07015	T	-0.325837	0.06431	T	-0.46915	0.25609	T	0.336925446987152	0.26501	T	.	.	.	0.3682145	0.58452	0.4908993	0.70548	0.3682145	0.58453	0.4908993	0.70548	-5.757	0.44198	T	.	.	0.085	0.10400	B	.	.	1.555674	0.19930	14.51	0.93343054448435947	0.23073	0.08418	0.14350	N	AEFGI	0.056325	0.10403	N	-0.209053320010625	0.32763	1.851294	-0.20854581434578	0.31227	1.765342	3.75557531342139E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.0	3.88	0.43959	-0.048000	0.11898	.	.	-0.154000	0.11915	0.000000	0.06391	0.291000	0.24165	0.902000	0.43815	0.7028:0.0:0.1565:0.1407	4.668	0.12061	190	0.92594	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1424.98	45	chr11	56346906	.	A	G	1424.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.305;DP=934;ExcessHet=0.0000;FS=1.456;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=0.672;SOR=0.536	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr11	56375950	56375950	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	653.59	237	chr11	56375950	.	A	G,*	653.59	.	AC=2,17;AF=0.048,0.405;AN=42;BaseQRankSum=5.82;DP=5436;ExcessHet=36.0830;FS=3.202;InbreedingCoeff=-0.8261;MLEAC=2,17;MLEAF=0.048,0.405;MQ=60.00;MQRankSum=0.00;QD=0.13;ReadPosRankSum=-1.131e+00;SOR=1.028	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:235,11,27:273:99:0|1:56375950_A_G:494,615,10401,0,9469,9934:56375950	2	0	2	0
chr11	56375951	56375951	T	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	440.62	237	chr11	56375951	.	T	G,*	440.62	.	AC=3,16;AF=0.075,0.400;AN=40;BaseQRankSum=3.55;DP=5427;ExcessHet=36.0830;FS=3.220;InbreedingCoeff=-0.8667;MLEAC=3,16;MLEAF=0.075,0.400;MQ=60.00;MQRankSum=0.00;QD=0.09;ReadPosRankSum=-1.200e+00;SOR=1.016	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:235,11,27:273:99:0|1:56375950_A_G:494,615,10401,0,9469,9934:56375950	1	0	3	1
chr11	56375953	56375953	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	429	642	47	0	404	451	0.0353118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	822.68	237	chr11	56375953	.	A	T,*	822.68	.	AC=3,16;AF=0.075,0.400;AN=40;BaseQRankSum=3.15;DP=5417;ExcessHet=36.0830;FS=3.217;InbreedingCoeff=-0.8667;MLEAC=3,16;MLEAF=0.075,0.400;MQ=60.00;MQRankSum=0.00;QD=0.16;ReadPosRankSum=-4.650e-01;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:233,11,30:274:99:0|1:56375950_A_G:615,735,10465,0,9397,9673:56375950	1	0	3	1
chr11	56412815	56412815	A	G	exonic	OR5AL1	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.848e-05	2.545e-05	2.475e-05	3.211e-05	0.0001	1.283e-05	8.6e-06	5.06e-06	2.4e-06	0.0001	0	0	0	0	0	1.902e-05	0.0002	0	6.573e-06	6.566e-06	1.286e-05	0	2.407e-05	0	0	.	.	2.407e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	330.15	47	chr11	56412815	.	A	G	330.15	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.272e+00;DP=1901;ExcessHet=0.6776;FS=88.232;InbreedingCoeff=-0.1093;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.58;ReadPosRankSum=1.46;SOR=10.239	GT:AD:DP:GQ:PL	0/1:133,30:163:91:91,0,3382	17	0	4	0
chr11	56491363	56491363	C	T	exonic	OR5M8	.	nonsynonymous SNV	OR5M8:NM_001005282:exon1:c.G8A:p.R3K,	.	.	.	.	.	.	.	.	.	.	.	3367273	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.45	T	0.002	B	0.001	B	0.338	U	1.000	N	-0.01	N	4.82	T	-0.896	T	0.003	T	0.147	-0.298	2.579	2.15	0.616	-0.176	4.488	0.011	0.00824931817748	.	.	8.005e-05	0	0	0	0	0	0	0.0007	5.82e-05	9	154602	rs780552557	4.425e-05	4.583e-05	2.648e-05	6.233e-05	0.0007	3.535e-05	3.213e-05	0.0006	0.0005	0	0	0	0	0	0	0	3.418e-05	0.0007	1.315e-05	1.313e-05	0	2.691e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.851	0.02732	T	0.531	0.10069	T	0.002	0.09854	B	0.001	0.04355	B	0.337645	0.14013	U	0.519226	0.999896	0.19781	N	0.54	0.13725	N	4.82	0.01504	T	0.01	0.06868	N	0.134	0.13055	-0.8961	0.48380	T	0.003	0.01059	T	10	0.035217375	0.01760	T	0.008249	0.21853	T	0.011	0.01250	0.302	0.27003	0.26169431596	0.25797	0.19768901109733303	0.19685	0.00435782311993	0.00387	0.367479592562	0.20470	T	0.005818	0.05268	T	-0.610052	0.00126	T	-0.755493	0.03277	T	0.0153553179164617	0.00342	T	0.122088	0.00949	T	0.07044616	0.15517	0.0545733	0.09411	0.07044616	0.15517	0.0545733	0.09411	-2.872	0.08867	T	.	.	0.091	0.13032	B	.	.	0.442668	0.08128	4.858	0.81945184871694143	0.13940	0.00718	0.03028	N	AEFI	0.025006	0.01640	N	-1.02135045635519	0.08161	0.3817063	-0.990510856391732	0.09997	0.5007966	4.06646340132239E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.11	2.15	0.26590	-0.721000	0.05067	.	.	0.388000	0.20467	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:0.6324:0.2358:0.1317	4.488	0.11212	259	0.89842	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1171.98	33	chr11	56491363	.	C	T	1171.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.780e-01;DP=758;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.76;ReadPosRankSum=1.08;SOR=0.646	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1222	20	0	1	0
chr11	56988921	56988921	T	A	exonic	OR5AK2	.	nonsynonymous SNV	OR5AK2:NM_001005323:exon1:c.T8A:p.L3Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.0	B	0.0	B	0.787	N	1.000	N	-0.755	N	6.5	T	-0.974	T	0.001	T	0.099	-1.814	0.009	-2.88	-0.640	-1.891	1.259	0.011	0.00194130034194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.02495	T	0.699	0.05747	T	0.0	0.02946	B	0.0	0.01387	B	0.787488	0.06691	N	1.140860	1	0.08975	N	-0.72	0.01791	N	6.5	0.00529	T	2.77	0.00177	N	0.071	0.04426	-0.9736	0.36431	T	0.001	0.00222	T	10	0.054807156	0.05891	T	0.001941	0.03456	T	0.011	0.01250	0.374	0.38667	0.0401082797425	0.02173	0.05577596708260057	0.05518	.	.	0.190569102764	0.00235	T	1.02E-4	0.00011	T	-0.399578	0.02330	T	-0.811742	0.01626	T	0.0763862567065326	0.09518	T	0.217778	0.02747	T	0.067652844	0.14671	0.06529966	0.13215	0.067652844	0.14670	0.06529966	0.13215	-3.446	0.15683	T	.	.	0.059	0.00742	B	.	.	-1.230392	0.00501	0.011	0.1557729881307385	0.00386	0.00218	0.01233	N	AEFGI	0.023712	0.01360	N	-1.84786341285623	0.00438	0.01885179	-1.83719678550015	0.00647	0.02877461	1.64780342407529E-4	0.05721	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.85	-2.88	0.05342	-1.412000	0.02582	.	.	-2.501000	0.00263	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.4106:0.1416:0.0928:0.355	1.259	0.01876	413	0.81939	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2564.98	33	chr11	56988921	.	T	A	2564.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.389;DP=938;ExcessHet=0.0000;FS=5.995;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=-1.996e+00;SOR=1.121	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,120,1800	20	0	1	0
chr11	56989577	56989577	A	G	exonic	OR5AK2	.	nonsynonymous SNV	OR5AK2:NM_001005323:exon1:c.A664G:p.M222V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.0	B	0.004	B	0.616	N	1.000	N	-0.955	N	8.86	T	-1.058	T	0.000	T	0.082	-0.565	1.451	-5.15	-1.163	-4.434	7.035	0.022	0.00120875364658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.28271	T	0.207	0.26969	T	0.0	0.02946	B	0.004	0.10090	B	0.615743	0.05727	N	1.256980	1	0.08975	N	-1.195	0.00846	N	8.86	0.00033	T	-1.0	0.26422	N	0.048	0.01999	-1.0583	0.12184	T	0.000	0.00075	T	10	0.050272167	0.04736	T	0.001209	0.01583	T	0.022	0.04323	0.559	0.67821	0.107399877778	0.10242	0.11286169725300638	0.11214	.	.	0.240359127522	0.02823	T	9.58E-4	0.00501	T	-0.400951	0.02283	T	-0.813715	0.01583	T	0.0917167344193451	0.11420	T	0.782522	0.41827	T	0.08412165	0.19456	0.12309858	0.29686	0.08412165	0.19456	0.12309858	0.29686	-0.239	0.00445	T	.	.	0.065	0.01986	B	.	.	-1.461420	0.00319	0.005	0.2796996664618257	0.01414	0.02354	0.06714	N	AEFI	0.093640	0.18944	N	-1.60691270459289	0.01230	0.05350361	-1.6536336402542	0.01357	0.06128481	3.55658697927721E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.85	-5.15	0.02648	-6.255000	0.00090	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.041000	0.14368	0.633:0.2094:0.0:0.1575	7.035	0.24170	415	0.81806	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2998.98	35	chr11	56989577	.	A	G	2998.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.681e+00;DP=1068;ExcessHet=0.0000;FS=3.772;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.98;MQRankSum=-5.800e-02;QD=12.29;ReadPosRankSum=-1.255e+00;SOR=0.498	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr11	57308684	57308684	C	T	exonic	TNKS1BP1	.	nonsynonymous SNV	TNKS1BP1:NM_033396:exon6:c.G4027A:p.D1343N,	.	.	425	1092	4	1	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.999	D	0.000	D	0.838	D	2.135	M	0.32	T	-0.271	T	0.286	T	0.219	4.037	20.7	5.08	2.359	1.068	13.982	0.200	0.0768038611178	0.0027	0.00179712	0.0019	0.0007	0.0006	0	0.0002	0.0030	0	0.0008	0.0021474	332	154602	rs148468577	0.0031	0.0031	0.0030	0.0032	0.0037	0.0030	0.0030	0.0036	0.0036	0.0007	0.0018	0.0007	0	0.0005	0.0029	0.0037	0.0026	0.0007	0.0026	0.0026	0.0027	0.0025	0.0038	0.0024	0.0023	0.0035	0.0033	0.0006	0.0559	0.0028	0.0006	0	0.0002	0	0.0038	0.0019	0.0004	0.014	0.53172	D	0.114	0.36765	T	1.0	0.90584	D	0.999	0.92359	D	0.000026	0.55875	D	0.000000	0.838304	0.35026	D	2.57	0.75187	M	0.32	0.58468	T	-2.05	0.47008	N	0.479	0.51405	-0.2707	0.75793	T	0.286	0.65763	T	10	0.0077692866	0.00176	T	0.076804	0.72618	D	0.200	0.48430	.	.	0.738566229336	0.73622	0.0827670018362022	0.08211	0.332314890103	0.35282	0.509589850903	0.40165	T	0.01195	0.10582	T	-0.426158	0.01564	T	-0.379796	0.35746	T	0.0465957004124187	0.04891	T	0.816518	0.47234	T	0.1742147	0.38213	0.13012612	0.31275	0.1742147	0.38212	0.13012612	0.31274	-7.035	0.54288	T	.	.	0.162	0.35746	B	.;.	.;.	3.881310	0.56413	23.7	0.99914930163140692	0.98309	0.79910	0.39693	D	AEFDGBCI	0.268757	0.38518	N	0.482742874289166	0.66082	4.904412	0.428582784151517	0.63354	4.567305	0.999999982402142	0.74766	0.67177	0.52595	0	0.694456	0.67091	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.08	5.08	0.68373	1.129000	0.30994	4.041000	0.41425	0.599000	0.40250	0.001000	0.13787	1.000000	0.68203	0.852000	0.40310	0.0:1.0:0.0:0.0	13.982	0.63825	440	0.80101	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1316.98	33	chr11	57308684	.	C	T	1316.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.365;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=2.78;SOR=0.709	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1029	20	0	1	0
chr11	57379730	57379730	C	T	exonic	PRG3	.	nonsynonymous SNV	PRG3:NM_006093:exon3:c.G139A:p.E47K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.998	D	0.896	P	0.690	N	1.000	N	1.87	L	3.57	T	-0.999	T	0.026	T	0.175	2.818	15.38	-0.51	-0.159	0.086	4.412	0.032	0.00376170926973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.751e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.457	0.08813	T	0.444	0.13177	T	0.998	0.73220	D	0.896	0.63555	P	0.690142	0.10183	N	0.850395	1	0.08975	N	2.505	0.72935	M	3.57	0.04645	T	-2.14	0.48523	N	0.121	0.11197	-0.9986	0.30311	T	0.026	0.11176	T	10	0.110052705	0.20554	T	0.003762	0.08744	T	0.032	0.07718	0.274	0.22528	0.365892764245	0.36201	0.42860867135048925	0.42777	0.0486226977544	0.05311	0.269430577755	0.06067	T	0.093645	0.39254	T	-0.250683	0.14014	T	-0.597865	0.12992	T	0.20536593848873	0.20708	T	0.652235	0.26282	T	0.10989174	0.25978	0.07002446	0.14827	0.10989174	0.25978	0.07002446	0.14827	-5.365	0.40582	T	.	.	0.080	0.07554	B	.	.	1.475552	0.19003	14.04	0.99258573592212263	0.57121	0.73366	0.35888	D	AEFDGBHCI	0.057001	0.10582	N	-0.378796946062851	0.26227	1.429705	-0.619901213133764	0.18981	1.016457	0.016770249721053	0.12870	0.648878	0.45929	0	0.55458	0.17659	0	0.596394	0.31383	0	0.562822	0.20929	0	.	.	4.84	-0.51	0.11376	0.147000	0.16021	-0.543000	0.08571	0.549000	0.26987	0.095000	0.22689	0.000000	0.08366	0.016000	0.10718	0.0:0.41:0.3156:0.2744	4.412	0.10864	329	0.86514	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2805.98	99	chr11	57379730	.	C	T	2805.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=2168;ExcessHet=0.0000;FS=1.105;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.39;ReadPosRankSum=1.77;SOR=0.788	GT:AD:DP:GQ:PL	0/0:103,0:103:99:0,120,1800	20	0	1	0
chr11	57389943	57389943	A	G	exonic	PRG2	.	startloss	PRG2:NM_001243245:exon2:c.T2C:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.991	D	0.766	P	0.000	D	1.000	D	.	.	2.77	T	0.128	D	0.541	D	0.728	2.194	13.29	3.97	1.726	2.267	9.813	0.293	0.639077478872	.	.	0.0002	0	8.694e-05	0	0	0	0	0.0012	0.0001294	20	154602	rs781351822	7.811e-05	8.003e-05	3.955e-05	0.0001	0.0012	6.61e-05	6.152e-05	0.0010	0.0010	0	4.489e-05	0	0	0	0	1.801e-06	6.631e-05	0.0012	2.628e-05	2.627e-05	0	5.379e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.0	0.91255	D	0.004	0.74150	D	0.991	0.64070	D	0.766	0.56676	P	0.000087	0.51296	D	0.000000	1	0.81001	D	.	.	.	2.77	0.80387	T	-4.45	0.77717	D	0.749	0.74918	0.128	0.84670	D	0.541	0.83099	D	9	0.8974786	0.89104	D	0.639077	0.96919	D	0.293	0.61272	0.995	0.99946	0.924310417531	0.92354	0.6564523094066108	0.65581	.	.	.	.	.	0.636327	0.88792	D	-0.0834596	0.39150	T	0.0568989	0.74039	D	0.358965303043422	0.27369	T	0.9	0.65058	D	0.83422667	0.86198	0.7411312	0.84698	0.83422667	0.86200	0.7411312	0.84699	-9.544	0.71132	D	.	.	0.476	0.63448	A	.;.;.;.	.;.;.;.	2.435894	0.31345	18.71	0.98297466466817129	0.40011	0.88243	0.48084	D	AEFBI	0.183789	0.31111	N	0.387458668056096	0.60741	4.266541	0.353582594765284	0.58723	4.044677	0.939109457746148	0.27372	0.638212	0.43195	0	0.633656	0.55848	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	3.97	3.97	0.45241	2.342000	0.43648	4.117000	0.41952	0.756000	0.94297	0.986000	0.36153	1.000000	0.68203	0.988000	0.63387	1.0:0.0:0.0:0.0	9.813	0.40003	324	0.86790	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1690.98	41	chr11	57389943	.	A	G	1690.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.400e-01;DP=927;ExcessHet=0.0000;FS=5.928;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.33;ReadPosRankSum=-1.269e+00;SOR=0.695	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1620	20	0	1	0
chr11	57476823	57476823	C	T	exonic	RTN4RL2	.	nonsynonymous SNV	RTN4RL2:NM_178570:exon3:c.C1175T:p.A392V,	.	.	396	1108	17	1	0	19	0.00850112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.018	B	0.002	B	.	.	0.992	N	0.345	N	0.25	T	-1.043	T	0.071	T	0.156	0.405	6.198	1.8	0.362	0.168	8.397	0.014	.	0.0031	0.00479233	0.0086	0.0014	0.0142	0	0.0255	0.0072	0.02	0.0127	0.0002305	6	26028	rs141304388	0.0063	0.0064	0.0060	0.0065	0.0114	0.0061	0.0061	0.0107	0.0105	0.0007	0.0114	0.0026	0	0.0231	0.0058	0.0054	0.0071	0.0113	0.0066	0.0066	0.0054	0.0078	0.0104	0.0063	0.0061	0.0091	0.0086	0.0013	0.0329	0.0104	0.0037	0.0006	0.0274	0.0068	0.0058	0.0038	0.0097	0.011	0.55530	D	0.328	0.18675	T	0.018	0.17786	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	0.25	0.59449	T	-1.28	0.32185	N	0.125	0.11769	-1.0431	0.16383	T	0.071	0.29034	T	9	0.0023450553	0.00035	T	.	.	.	0.014	0.01968	.	.	0.416446257289	0.41261	0.26049700544724286	0.25963	1.06338473455	0.76549	0.735802829266	0.72355	T	0.098477	0.40233	T	-0.495055	0.00609	T	-0.472858	0.25209	T	0.0094299413240383	0.00121	T	0.580242	0.20999	T	0.150981	0.34345	0.21442443	0.45992	0.150981	0.34345	0.21442443	0.45991	-4.629	0.32534	T	.	.	0.066	0.02065	B	.	.	1.751098	0.22276	15.55	0.97470050534828734	0.34131	0.01686	0.05377	N	ALL	0.040239	0.05956	N	-0.862290915450808	0.11748	0.5687231	-0.821535014336905	0.13974	0.7277858	0.999999998838283	0.74766	0.766844	0.99359	0	0.218748	0.04544	0	0.851219	0.99655	0	0.56751	0.32155	0	.	.	2.73	1.8	0.24069	0.032000	0.13620	0.301000	0.16978	0.446000	0.21189	0.000000	0.06391	0.917000	0.28245	0.911000	0.44643	0.0:0.8737:0.0:0.1263	8.397	0.31727	71	0.96981	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1486.98	42	chr11	57476823	.	C	T	1486.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.030;DP=856;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.65;ReadPosRankSum=1.14;SOR=0.775	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr11	57741941	57741941	C	T	exonic	SELENOH	.	unknown	UNKNOWN,	.	.	416	1049	52	5	0	62	0.0287037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.989	T	0.126	T	.	1.786	11.93	2.41	0.372	-0.559	4.439	0.023	.	0.0077	0.00419329	0.0103	0.0014	0.0036	0	0.0035	0.0144	0.0114	0.0102	0.007322	1132	154602	rs1127680	0.0066	0.0066	0.0064	0.0068	0.0306	0.0065	0.0064	0.0268	0.0254	0.0009	0.0041	0.0818	0	0.0036	0.0306	0.0050	0.0118	0.0082	0.0061	0.0061	0.0063	0.0060	0.0091	0.0058	0.0057	0.0070	0.0062	0.0008	0	0.0046	0.0841	0	0.0042	0.0204	0.0062	0.0085	0.0091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1101.98	33	chr11	57741941	.	C	T	1101.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=849;ExcessHet=0.0000;FS=7.492;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.77;ReadPosRankSum=-5.340e-01;SOR=1.201	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:50,0:50:99:.:.:0,120,1800	20	0	1	0
chr11	57796896	57796896	G	A	exonic	CTNND1	.	nonsynonymous SNV	CTNND1:NM_001085469:exon3:c.G557A:p.R186H	.	.	421	1072	28	1	0	30	0.0137994	.	.	3207144	CTNND1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	1.905	M	0.94	T	0.450	D	0.705	D	0.837	5.488	35	5.92	2.805	8.932	19.928	0.526	.	0.0002	0.00239617	0.0016	0.0001	0.0007	0.0001	0	0.0005	0.0024	0.0109	0.0013583	210	154602	rs200914456	0.0009	0.0010	0.0006	0.0013	0.0105	0.0009	0.0009	0.0099	0.0097	6.005e-05	0.0005	0.0042	0	0	0.0056	0.0002	0.0014	0.0105	0.0006	0.0006	0.0004	0.0007	0.0120	0.0005	0.0004	0.0095	0.0086	9.621e-05	0	6.537e-05	0.0023	0.0002	0	0	0.0002	0.0005	0.0120	0.001	0.91255	D	0.127	0.92824	T	0.997	0.90584	D	0.884	0.88582	P	0.000000	0.84330	D	0.049271	0.999999	0.81001	D	2.305	0.65957	M	-1.36	0.83327	T	-2.12	0.71882	N	0.652	0.77601	0.450	0.89840	D	0.705	0.89849	D	10	0.008713067	0.00197	T	.	.	.	0.526	0.79947	.	.	0.893469137683	0.89241	0.7538686209710876	0.75333	1.21594706112	0.80967	0.727611362934	0.71158	T	0.036562	0.73026	T	0.0189001	0.54234	T	0.262334	0.86201	D	0.0432667433749685	0.04286	T	0.963804	0.88413	D	0.3429911	0.56517	0.32258293	0.58197	0.3187861	0.54537	0.37006184	0.62263	-3.71	0.26795	T	.	.	0.500	0.64763	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.411063	0.90574	31	0.99957276297572628	0.99981	0.99859	0.99866	D	AEFDBI	0.953844	0.97048	D	0.895609814481584	0.91543	10.93695	0.903831306916432	0.95736	13.91645	0.999999999999999	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	9.099000	0.93565	8.635000	0.77869	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.928	0.97108	378	0.83833	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1444.98	39	chr11	57796896	.	G	A	1444.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.504;DP=915;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=0.731;SOR=0.773	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr11	57811471	57811471	C	T	exonic	CTNND1	.	nonsynonymous SNV	CTNND1:NM_001085469:exon13:c.C2302T:p.R768W	.	.	428	1089	4	1	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.914	D	0.000	D	1.000	D	1.525	L	-0.23	T	0.052	D	0.519	D	0.723	4.407	23.4	4.93	2.809	2.385	16.094	0.211	0.0471628227534	.	0.00139776	0.0006	0.0001	0	0.0001	0	3.001e-05	0	0.0043	0.0005304	82	154602	rs144978541	0.0003	0.0003	0.0002	0.0005	0.0050	0.0003	0.0003	0.0046	0.0045	8.98e-05	2.25e-05	0	2.525e-05	0	0.0007	2.79e-05	0.0001	0.0050	0.0002	0.0002	0.0002	0.0003	0.0058	0.0002	0.0002	0.0041	0.0036	0.0001	0	0	0	0.0002	0	0.0034	2.941e-05	0	0.0058	0.004	0.78490	D	0.016	0.62352	D	0.999	0.77913	D	0.914	0.64984	D	0.000015	0.62929	D	0.109384	0.999843	0.51968	D	1.59	0.40313	L	-0.32	0.76430	T	-3.28	0.68412	D	0.351	0.49874	0.052	0.83283	D	0.519	0.82004	D	10	0.006685525	0.00152	T	0.047163	0.62796	D	0.338	0.66010	.	.	0.532942736534	0.52943	0.5355406024766985	0.53479	1.03768003082	0.75667	0.617040455341	0.55311	T	0.090077	0.90874	T	-0.157924	0.27081	T	0.0016057	0.70441	D	0.14380701957428	0.16599	T	0.979502	0.92959	D	0.33111218	0.55562	0.2963153	0.55663	0.29705328	0.52638	0.30572686	0.56598	-10.55	0.80024	D	.	.	0.471	0.71176	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.683086	0.74965	26.2	0.99914843300219591	0.98309	0.95178	0.63725	D	AEFBI	0.876342	0.80030	D	0.589769725913538	0.72534	5.821118	0.608096935511053	0.75526	6.326319	0.722886061118678	0.22953	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.92	4.93	0.64394	2.417000	0.44307	2.670000	0.33941	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1741:0.8259:0.0:0.0	16.094	0.80917	378	0.83833	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1453.98	33	chr11	57811471	.	C	T	1453.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.02;DP=851;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.09;ReadPosRankSum=-3.100e-02;SOR=0.710	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1291	20	0	1	0
chr11	58031031	58031031	C	T	exonic	OR6Q1	.	nonsynonymous SNV	OR6Q1:NM_001005186:exon1:c.C79T:p.L27F,	.	.	434	1083	3	2	0	7	0.00322135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.027	B	0.024	B	0.694	N	1.000	N	1.175	L	7.31	T	-0.975	T	0.001	T	0.12	-1.628	0.013	-1.88	-0.306	-2.053	2.089	0.014	0.00363523503977	0.0016	0.000998403	0.0011	0.0002	0.0003	0	0	0.0017	0.0011	0.0010	0.0010284	159	154602	rs75126969	0.0011	0.0011	0.0010	0.0011	0.0043	0.0010	0.0010	0.0030	0.0026	0.0003	0.0005	0.0023	2.519e-05	1.872e-05	0.0043	0.0011	0.0009	0.0014	0.0009	0.0009	0.0011	0.0007	0.0015	0.0008	0.0007	0.0013	0.0012	0.0003	0	0.0002	0.0017	0.0002	0	0.0136	0.0015	0.0019	0.0008	0.601	0.05618	T	.	.	.	0.027	0.19556	B	0.024	0.20255	B	0.694460	0.06165	N	1.246920	1	0.08975	N	1.435	0.35949	L	7.31	0.00421	T	-0.81	0.22294	N	0.042	0.01498	-0.9746	0.36213	T	0.001	0.00255	T	10	0.009417981	0.00213	T	0.003635	0.08340	T	0.014	0.01968	.	.	0.0551355673512	0.04727	0.07002682569971383	0.06939	0.0351969744891	0.03713	0.197341561317	0.00384	T	0.011654	0.10368	T	-0.668838	0.00056	T	-0.763595	0.02985	T	0.00109979949434447	0.00011	T	0.170983	0.01619	T	0.05155552	0.09486	0.052616816	0.08704	0.05155552	0.09486	0.052616816	0.08703	-4.71	0.33525	T	.	.	0.085	0.09965	B	.	.	-0.444490	0.02052	0.187	0.32540684684743304	0.01891	0.05065	0.10857	N	AEFBI	0.060685	0.11551	N	-1.35541503854306	0.03070	0.1365301	-1.39477615941573	0.03307	0.1540123	0.00286400637471297	0.09760	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.32	-1.88	0.07294	-1.792000	0.01853	-4.040000	0.02377	-1.122000	0.01471	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.123:0.3624:0.1205:0.3941	2.089	0.03431	421	0.81399	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2664.98	33	chr11	58031031	.	C	T	2664.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=900;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=1.30;SOR=0.677	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1376	20	0	1	0
chr11	58031388	58031388	A	C	exonic	OR6Q1	.	nonsynonymous SNV	OR6Q1:NM_001005186:exon1:c.A436C:p.I146L,	.	.	427	1087	7	1	0	9	0.00412277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.001	B	0.006	B	0.139	N	1.000	N	-0.325	N	1.26	T	-1.010	T	0.027	T	0.304	1.057	9.316	0.015	-0.028	-1.069	3.242	0.043	.	0.0002	0.00858626	0.0032	9.61e-05	0.0003	0.0002	0	2.997e-05	0.0033	0.0227	0.0028719	444	154602	rs138730895	0.0013	0.0013	0.0006	0.0019	0.0204	0.0012	0.0012	0.0196	0.0193	2.987e-05	8.944e-05	0	2.519e-05	0	0.0005	8.993e-06	0.0013	0.0204	0.0008	0.0008	0.0004	0.0012	0.0245	0.0007	0.0007	0.0209	0.0195	2.407e-05	0	0.0001	0	0.0004	0	0	1.47e-05	0.0005	0.0245	0.438	0.09319	T	.	.	.	0.001	0.07471	B	0.006	0.12133	B	0.139159	0.18353	N	0.392857	0.999996	0.58761	D	-0.38	0.03056	N	1.26	0.36330	T	-0.38	0.13418	N	0.091	0.06990	-1.0104	0.26791	T	0.027	0.11707	T	10	0.0018544495	0.00025	T	.	.	.	0.043	0.11576	.	.	0.21279746466	0.20884	0.15201716873425436	0.15123	0.0361520679854	0.03821	0.315418362617	0.12727	T	0.003	0.02504	T	-0.566039	0.00234	T	-0.568932	0.15547	T	0.0109797543959309	0.00158	T	0.0344965	0.00231	T	0.06392953	0.13513	0.071705416	0.15385	0.06392953	0.13512	0.071705416	0.15384	-2.661	0.06981	T	.	.	0.066	0.02200	B	.	.	-0.287042	0.02674	0.344	0.87065885494475515	0.16965	0.14421	0.18394	N	AEFBI	0.174100	0.30122	N	-0.961558466133233	0.09434	0.4464948	-0.827642874662179	0.13827	0.7193443	0.00189353185730355	0.08984	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.04	0.015	0.13422	-2.551000	0.01004	-5.390000	0.01737	0.727000	0.85467	0.000000	0.06391	0.000000	0.08366	0.985000	0.61073	0.358:0.0:0.3305:0.3115	3.242	0.06382	421	0.81399	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3168.98	186	chr11	58031388	.	A	C	3168.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.42;DP=2450;ExcessHet=0.0000;FS=4.362;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.04;ReadPosRankSum=-6.700e-02;SOR=0.981	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1376	20	0	1	0
chr11	58215087	58215087	T	A	exonic	OR1S1	.	nonsynonymous SNV	OR1S1:NM_001004458:exon2:c.T343A:p.Y115N,	.	.	430	1088	4	0	0	4	0.00183486	.	.	3363317	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.000	D	0.923	D	3.21	M	7.11	T	-0.926	T	0.006	T	0.5	3.542	18.07	3.45	1.443	4.276	11.282	0.138	0.0019296207461	0.0007	0.000399361	0.0007	9.61e-05	0.0006	0	0	0.0008	0	0.0012	0.0006274	97	154602	rs146969930	0.0006	0.0006	0.0006	0.0007	0.0040	0.0006	0.0006	0.0027	0.0023	0.0003	0.0010	0	0	3.744e-05	0.0040	0.0006	0.0010	0.0011	0.0006	0.0006	0.0006	0.0007	0.0010	0.0005	0.0005	0.0007	0.0007	0.0001	0	0.0010	0	0	0	0.0136	0.0009	0.0024	0.0010	.	.	.	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.000440	0.44522	D	0.000000	0.922592	0.36722	D	3.925	0.96283	H	.	.	.	.	.	.	.	.	-0.9260	0.44716	T	0.006	0.01907	T	10	0.044725657	0.03463	T	0.00193	0.03430	T	.	.	.	.	.	.	0.1578217699288145	0.15703	.	.	0.231855243444	0.02108	T	0.013349	0.11560	T	-0.372036	0.03493	T	-0.357621	0.38328	T	0.212711844686586	0.21094	T	0.781422	0.45429	T	0.59721506	0.72541	0.6785944	0.81120	0.59721506	0.72542	0.6785944	0.81121	-7.24	0.55768	T	.	.	0.200	0.46631	B	.;.	.;.	3.583016	0.50527	23.0	0.99050031709217656	0.51230	0.95631	0.65497	D	AEFGI	0.388271	0.46795	N	0.585887707335826	0.72295	5.782984	0.445124694826626	0.64405	4.694867	0.689642540351515	0.22574	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.45	3.45	0.38602	4.547000	0.60422	-1.105000	0.06316	0.340000	0.19754	0.621000	0.27922	0.000000	0.08366	0.857000	0.40602	0.0:0.0:0.0:1.0	11.282	0.48431	360	0.84920	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2185.98	121	chr11	58215087	.	T	A	2185.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.86;DP=2925;ExcessHet=0.0000;FS=7.473;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.70;MQRankSum=-1.960e+00;QD=12.01;ReadPosRankSum=-4.860e-01;SOR=0.746	GT:AD:DP:GQ:PL	0/1:102,80:182:99:2200,0,2891	20	0	1	0
chr11	58267476	58267476	G	A	exonic	OR10W1	.	nonsynonymous SNV	OR10W1:NM_207374:exon1:c.C383T:p.T128I,	.	.	427	1079	13	3	0	19	0.00872761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.981	D	0.708	P	0.003	N	0.918	N	2.945	M	6.78	T	-1.056	T	0.004	T	0.416	2.646	14.81	3.81	1.434	0.879	9.591	0.098	.	0.0002	0.0183706	0.0107	0.0002	0.0008	0.0004	0	3.025e-05	0.0101	0.0769	0.0091719	1418	154602	rs200833145	0.0047	0.0047	0.0024	0.0069	0.0751	0.0046	0.0045	0.0736	0.0729	0.0002	6.712e-05	0	5.045e-05	0	0.0035	2.608e-05	0.0046	0.0751	0.0026	0.0026	0.0013	0.0039	0.0766	0.0023	0.0023	0.0701	0.0676	0.0003	0	6.532e-05	0	0.0004	0	0	4.409e-05	0.0009	0.0766	0.005	0.63226	D	0.016	0.60972	D	0.981	0.59675	D	0.708	0.54437	P	0.002641	0.36208	N	0.125321	0.917861	0.27362	N	2.945	0.84822	M	6.78	0.00490	T	-4.25	0.76094	D	0.297	0.33578	-1.0559	0.12803	T	0.004	0.01400	T	10	0.002395302	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.49150466261061965	0.49071	0.174593514633	0.19662	0.302266150713	0.10739	T	0.028591	0.20678	T	-0.501515	0.00561	T	-0.435641	0.29297	T	0.0913901125791992	0.11382	T	0.732227	0.34774	T	0.5716251	0.71150	0.54522276	0.73712	0.5716251	0.71151	0.54522276	0.73713	-8.308	0.63149	D	.	.	0.296	0.52696	B	.	.	3.101195	0.41791	21.4	0.99827754227103138	0.91026	0.90528	0.51778	D	AEFGI	0.273053	0.38855	N	0.286629345381957	0.55468	3.711056	0.159904920510697	0.47669	2.993664	1.71151944038902E-4	0.05786	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.81	3.81	0.43020	1.637000	0.36769	3.840000	0.40037	0.676000	0.76740	0.556000	0.27393	1.000000	0.68203	0.533000	0.29776	0.0:0.1371:0.5803:0.2827	9.591	0.38708	285	0.88719	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	5181.11	179	chr11	58267476	.	G	A	5181.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.982;DP=1114;ExcessHet=0.1072;FS=0.373;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=0.513;SOR=0.720	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1258	19	0	2	0
chr11	58358170	58358170	C	T	exonic	OR5B17	.	nonsynonymous SNV	OR5B17:NM_001005489:exon1:c.G900A:p.M300I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.0	B	0.0	B	.	.	1.000	N	-0.175	N	1.28	T	-1.027	T	0.038	T	0.04	-0.322	2.471	-1.17	-0.082	-3.508	5.269	0.062	0.00175093198672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.33418	T	0.097	0.39190	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.245	0.03879	N	1.28	0.35960	T	-1.28	0.32185	N	0.037	0.01135	-1.0274	0.21299	T	0.038	0.16548	T	9	0.06617108	0.09037	T	0.001751	0.02960	T	0.062	0.17934	0.518	0.61915	0.0611884634855	0.05136	0.04196166402900863	0.04141	0.00531629133711	0.00468	0.198133453727	0.00404	T	0.008779	0.08035	T	-0.388482	0.02751	T	-0.795804	0.02010	T	0.0327330900449027	0.02427	T	0.0359464	0.00247	T	0.1077069	0.25468	0.121902384	0.29409	0.1077069	0.25468	0.121902384	0.29408	-3.077	0.11033	T	.	.	0.147	0.32469	B	.	.	-0.680358	0.01367	0.077	0.67119739765775077	0.08260	0.02283	0.06581	N	AEFI	0.035019	0.04437	N	-1.28810383539775	0.03818	0.1712229	-1.33973801635374	0.03928	0.184258	1.91526172374714E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.63	-1.17	0.09152	-6.177000	0.00094	-20.000000	0.00162	-0.362000	0.05498	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.4698:0.4001:0.1301	5.269	0.14926	259	0.89842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2560.98	98	chr11	58358170	.	C	T	2560.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.300e-01;DP=2380;ExcessHet=0.0000;FS=1.003;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.63;ReadPosRankSum=0.478;SOR=0.611	GT:AD:DP:GQ:PL	0/0:118,0:118:99:0,120,1800	20	0	1	0
chr11	58402613	58402613	A	G	exonic	OR5B3	.	nonsynonymous SNV	OR5B3:NM_001005469:exon1:c.T797C:p.M266T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.095	B	0.183	B	0.000	D	0.928	N	1.015	L	8.8	T	-1.046	T	0.000	T	0.127	1.797	11.97	4.06	1.839	0.108	7.835	0.134	.	0.0098	0.00938498	0.0028	0.0263	0.0011	0.0046	0	4.497e-05	0.0011	0.0002	0.0026455	409	154602	rs79345772	0.0008	0.0008	0.0009	0.0007	0.0284	0.0008	0.0008	0.0269	0.0263	0.0284	0.0012	0	0.0021	0	0.0012	6.296e-06	0.0018	0.0002	0.0077	0.0077	0.0074	0.0080	0.0269	0.0074	0.0072	0.0256	0.0251	0.0269	0	0.0017	0	0.0037	0	0	5.88e-05	0.0043	0.0004	0.007	0.59928	D	0.017	0.60337	D	0.095	0.25437	B	0.183	0.35961	B	0.000017	0.62929	D	0.000000	0.928	0.27123	N	0.73	0.18813	N	8.8	0.00050	T	-5.89	0.88767	D	0.193	0.21188	-1.0464	0.15418	T	0.000	0.00039	T	10	0.003175974	0.00053	T	.	.	.	0.134	0.36365	.	.	0.299770980665	0.29595	0.08287703240156402	0.08222	0.0978903917281	0.11043	0.22838306427	0.01850	T	0.01425	0.12170	T	-0.634256	0.00090	T	-0.662212	0.08118	T	0.066647436813198	0.08172	T	0.225777	0.02969	T	0.6056261	0.72993	0.754464	0.85488	0.6056261	0.72994	0.754464	0.85489	-6.153	0.47542	T	.	.	0.105	0.21840	B	.;.	.;.	2.597402	0.33711	19.42	0.97991654843583076	0.37408	0.05242	0.11075	N	AEFI	0.065907	0.12879	N	-0.3409326256914	0.27607	1.516014	-0.27209622143016	0.29021	1.622675	8.26847345480278E-5	0.04703	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.06	4.06	0.46572	0.460000	0.21635	2.402000	0.32598	0.658000	0.54486	0.000000	0.06391	0.014000	0.20376	0.976000	0.56436	0.8984:0.0:0.1015:0.0	7.835	0.28527	254	0.90023	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1737.98	34	chr11	58402613	.	A	G	1737.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.384e+00;DP=1347;ExcessHet=0.0000;FS=2.349;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.60;ReadPosRankSum=-2.921e+00;SOR=0.504	GT:AD:DP:GQ:PL	0/0:111,0:111:99:0,120,1800	20	0	1	0
chr11	58579555	58579555	C	T	exonic	ZFP91	.	nonsynonymous SNV	ZFP91:NM_001197051:exon1:c.C274T:p.P92S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.0	B	0.0	B	0.000	N	0.993	N	0.345	N	3.03	T	-0.957	T	0.003	T	0.046	1.958	12.50	-0.933	0.188	-0.141	1.447	0.102	.	0.0097	0.0131789	0.0036	0.0506	0.0024	0	0	7.062e-05	0.0019	0.0002	0.0025808	399	154602	rs116054810	0.0009	0.0010	0.0011	0.0008	0.0379	0.0009	0.0009	0.0361	0.0353	0.0379	0.0016	0	0	0	0.0011	1.09e-05	0.0019	0.0001	0.0099	0.0100	0.0099	0.0100	0.0351	0.0095	0.0094	0.0336	0.0330	0.0351	0	0.0024	0	0	0	0	8.825e-05	0.0057	0.0002	0.002	0.72154	D	0.018	0.59732	D	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.00162	N	15.234600	0.992823	0.23819	N	0	0.06538	N	3.03	0.08898	T	0.06	0.06253	N	0.057	0.02861	-0.9565	0.39825	T	0.003	0.00832	T	10	0.0022826195	0.00033	T	.	.	.	0.102	0.29158	.	.	0.043077524339	0.03247	0.07012687226508976	0.06949	0.228809772525	0.25434	0.678505539894	0.64054	T	0.047221	0.27658	T	-0.695005	0.00039	T	-0.743943	0.03727	T	0.0723485235630409	0.08977	T	0.651035	0.26183	T	0.20443146	0.42552	0.22168995	0.46989	0.20443146	0.42552	0.22168995	0.46988	-3.742	0.19940	T	.	.	0.083	0.09336	B	.	.	1.363477	0.17728	13.33	0.96029778987603143	0.28500	0.19388	0.20641	N	AEFGBHCIJ	0.032493	0.03683	N	-0.79713490836091	0.13385	0.6589811	-0.740591942281393	0.15954	0.8416335	0.999999999999295	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	3.76	-0.933	0.09900	-0.333000	0.07938	0.280000	0.16756	0.465000	0.21702	0.000000	0.06391	0.000000	0.08366	0.762000	0.36218	0.3685:0.3301:0.181:0.1204	1.447	0.02224	622	0.65860	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	943.98	34	chr11	58579555	.	C	T	943.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.60;DP=796;ExcessHet=0.0000;FS=2.292;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.00;ReadPosRankSum=-1.016e+00;SOR=1.121	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr11	58579556	58579556	C	G	exonic	ZFP91	.	nonsynonymous SNV	ZFP91:NM_001197051:exon1:c.C275G:p.P92R	.	.	414	1091	17	0	0	17	0.00773079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.022	B	0.003	B	0.000	N	0.999	N	0.345	N	3.0	T	-0.986	T	0.011	T	0.137	2.022	12.72	1.73	0.154	0.735	8.740	0.069	.	0.0048	0.00399361	0.0148	0.0012	0.0014	0	0.0847	0.0146	0.0310	0.0162	0.0091913	1421	154602	rs200108858	0.0100	0.0100	0.0099	0.0102	0.0140	0.0099	0.0098	0.0133	0.0131	0.0008	0.0017	0.0002	8.498e-05	0.0475	0.0049	0.0092	0.0086	0.0140	0.0091	0.0091	0.0072	0.0110	0.0141	0.0087	0.0085	0.0114	0.0104	0.0013	0.0022	0.0037	0	0.0002	0.0543	0	0.0091	0.0033	0.0141	0.003	0.68238	D	0.007	0.69154	D	0.013	0.16609	B	0.001	0.04355	B	0.000000	0.00162	N	15.234600	0.999218	0.21497	N	0	0.06538	N	3.0	0.09167	T	-0.75	0.21003	N	0.047	0.01911	-0.9860	0.33590	T	0.011	0.04134	T	10	0.0023399293	0.00034	T	.	.	.	0.069	0.20116	.	.	.	.	0.058964305836718	0.05837	0.298534013486	0.32233	0.710501134396	0.68666	T	0.068161	0.33387	T	-0.606313	0.00133	T	-0.632026	0.10262	T	0.0536316216313738	0.06127	T	0.70113	0.31087	T	0.300261	0.52928	0.34986305	0.60604	0.300261	0.52928	0.34986305	0.60604	-4.406	0.29638	T	.	.	0.141	0.31074	B	.	.	1.707634	0.21744	15.33	0.98572303355656599	0.43128	0.36916	0.25643	N	AEFGBHCIJ	0.045923	0.07565	N	-0.727865100058319	0.15241	0.7663986	-0.645672969450533	0.18326	0.9784742	0.99999999999951	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	3.76	1.73	0.23565	0.576000	0.23446	2.204000	0.31312	0.465000	0.21702	0.000000	0.06391	0.010000	0.20010	0.754000	0.35928	0.4005:0.5995:0.0:0.0	8.740	0.33713	622	0.65860	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	854.98	34	chr11	58579556	.	C	G	854.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.929e+00;DP=808;ExcessHet=0.0000;FS=0.897;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=-3.070e-01;SOR=0.820	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr11	58624310	58624310	G	A	exonic	CNTF	.	nonsynonymous SNV	CNTF:NM_000614:exon2:c.G391A:p.E131K,	.	.	426	1082	14	0	0	14	0.00642792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.872	P	0.556	P	.	.	0.915	N	2.015	M	1.25	T	-0.962	T	0.125	T	0.357	3.484	17.82	5.48	2.575	2.047	10.380	0.102	0.0156769220911	.	0.000399361	0.0003	0	8.658e-05	0	0	0.0001	0	0.0019	0.0002846	44	154602	rs202082223	0.0002	0.0002	0.0002	0.0003	0.0040	0.0002	0.0002	0.0027	0.0023	2.987e-05	0.0001	3.826e-05	0	5.616e-05	0.0040	9.982e-05	0.0003	0.0017	0.0001	0.0001	0.0001	0.0001	0.0019	7.591e-05	6.293e-05	0.0010	0.0007	0	0	0	0	0.0002	0	0	0.0001	0.0005	0.0019	0.072	0.34982	T	0.225	0.25514	T	0.872	0.47902	P	0.556	0.49411	P	.	.	.	.	0.915232	0.27418	N	2.4	0.69460	M	1.25	0.36512	T	-1.6	0.38540	N	0.17	0.18103	-0.9621	0.38781	T	0.125	0.43049	T	9	0.019503176	0.00436	T	0.015677	0.36546	T	0.102	0.29158	.	.	0.696112660581	0.69349	0.27168748576247176	0.27081	0.168020938621	0.18945	0.434865087271	0.29874	T	0.251565	0.62184	T	-0.422948	0.01638	T	-0.387575	0.34836	T	0.0783024345760878	0.09768	T	0.835616	0.50622	T	0.38231814	0.59484	0.3192124	0.57884	0.38231814	0.59484	0.3192124	0.57883	-4.388	0.29394	T	.	.	0.144	0.31733	B	.	.	3.809875	0.54942	23.5	0.9987914352735181	0.95572	0.74187	0.36288	D	AEFBCI	0.102726	0.20599	N	0.397614660401001	0.61293	4.328381	0.418474032510477	0.62716	4.491794	0.999967803469381	0.48965	0.460665	0.09802	0	0.577304	0.33150	0	0.575934	0.27490	0	0.636168	0.56350	0	.	.	5.48	5.48	0.80675	2.142000	0.41802	8.694000	0.78086	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.918000	0.45347	0.0893:0.0:0.9107:0.0	10.380	0.43287	635	0.64580	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	4307.11	36	chr11	58624310	.	G	A	4307.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.69;DP=995;ExcessHet=0.1072;FS=2.490;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.41;ReadPosRankSum=0.625;SOR=0.843	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	19	0	2	0
chr11	58837306	58837306	T	C	exonic	GLYATL2	.	nonsynonymous SNV	GLYATL2:NM_145016:exon4:c.A278G:p.N93S,	.	.	427	1067	28	0	0	28	0.012951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.001	B	0.002	B	0.942	U	1.000	N	-0.205	N	2.52	T	-0.976	T	0.017	T	0.021	0.669	7.585	1.89	0.518	0.371	5.359	0.026	.	0.0007	0.00319489	0.0024	0.0003	0.0008	0.0003	0	0.0007	0.0033	0.0133	0.002044	316	154602	rs186195231	0.0012	0.0012	0.0008	0.0015	0.0133	0.0011	0.0011	0.0126	0.0124	0.0002	0.0006	0	0.0001	0	0.0061	0.0004	0.0014	0.0133	0.0007	0.0007	0.0005	0.0009	0.0126	0.0006	0.0006	0.0101	0.0092	0.0001	0	0.0007	0	0.0004	0	0.0068	0.0004	0.0014	0.0126	0.095	0.31235	T	0.121	0.35840	T	0.001	0.07471	B	0.002	0.06944	B	0.942420	0.07603	U	1.033050	1	0.08975	N	0	0.06538	N	2.52	0.14160	T	-0.27	0.11366	N	0.062	0.03392	-0.9756	0.35993	T	0.017	0.06902	T	10	0.012931883	0.00276	T	.	.	.	0.026	0.05648	.	.	0.132336055621	0.12781	0.021798170451970585	0.02131	0.0168934357688	0.01633	0.388762056828	0.23495	T	0.002413	0.01807	T	-0.752183	0.00017	T	-0.842204	0.01066	T	0.0016191286783392	0.00016	T	0.217978	0.02763	T	0.03282311	0.03380	0.031459212	0.01737	0.03282311	0.03380	0.031459212	0.01736	-4.298	0.28149	T	.	.	0.077	0.06387	B	.;.	.;.	0.427752	0.07980	4.696	0.65255321531117527	0.07721	0.01376	0.04691	N	AEFI	0.032290	0.03615	N	-1.02161200229743	0.08156	0.3814431	-1.01167758746855	0.09528	0.4745404	2.21359125071699E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.24	1.89	0.24700	0.342000	0.19669	0.122000	0.14930	-0.132000	0.13132	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2367:0.0:0.7633	5.359	0.15379	624	0.65661	Glycine N-acyltransferase, N-terminal;Glycine N-acyltransferase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2037.98	37	chr11	58837306	.	T	C	2037.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.778;DP=893;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=0.259;SOR=0.655	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1184	20	0	1	0
chr11	59093952	59093952	G	T	exonic	GLYATL1B	.	nonsynonymous SNV	GLYATL1B:NM_001355566:exon4:c.G332T:p.G111V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs563991825	2.257e-05	2.314e-05	1.656e-05	2.758e-05	0.0003	1.203e-05	9.5e-06	1.581e-05	8.38e-06	0	0	0	0	0	0.0003	1.933e-05	6.909e-05	5.96e-05	6.57e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.538	0.09829	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.18649	.	.	.	.	.	.	.	0.09707844	0.17459	T	.	.	.	.	.	.	.	.	.	0.04695298924126916	0.04638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.662434	0.27137	T	0.041321546	0.06064	0.10214707	0.24475	0.041321546	0.06063	0.10214707	0.24475	-1.105	0.01123	T	.	.	0.188	0.40489	B	.	.	0.729875	0.10990	7.652	0.43266887562818179	0.03246	0.00633	0.02779	N	AEFGI	.	.	.	.	.	.	.	.	.	0.905092077586192	0.26195	0.163922	0.03765	0	0.156668	0.03792	0	0.10224	0.03073	0	0.075334	0.01956	0	0.0506562	0.09881	1.96	-1.32	0.08721	-0.532000	0.06252	-0.527000	0.08657	-0.287000	0.06331	0.000000	0.06391	0.000000	0.08366	0.052000	0.15357	0.3613:0.0:0.3737:0.265	1.951	0.03163	628	0.65206	Glycine N-acyltransferase, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1114.98	35	chr11	59093952	.	G	T	1114.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.170e-01;DP=822;ExcessHet=0.0000;FS=2.523;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=49.95;MQRankSum=-2.043e+00;QD=10.72;ReadPosRankSum=-1.279e+00;SOR=0.960	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1397	20	0	1	0
chr11	59125014	59125014	A	G	exonic	FAM111B	.	nonsynonymous SNV	FAM111B:NM_001142704:exon2:c.A827G:p.H276R	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, Autosomal dominant	.	438	1082	1	1	0	3	0.0013844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.006	B	0.004	B	0.565	N	1.000	N	1.24	L	1.56	T	-1.028	T	0.046	T	0.12	-0.050	3.760	-2.07	-0.554	0.296	3.502	0.038	.	.	0.00499201	0.0018	0.0001	8.735e-05	0	0	1.516e-05	0.0011	0.0130	0.0015977	247	154602	rs200497516	0.0006	0.0006	0.0004	0.0009	0.0099	0.0006	0.0006	0.0093	0.0091	2.993e-05	0	0	2.52e-05	0	0.0005	5.397e-06	0.0010	0.0099	0.0004	0.0004	0.0003	0.0005	0.0114	0.0003	0.0003	0.0090	0.0081	0.0001	0	0	0	0	0	0	0	0.0005	0.0114	0.006	0.63226	D	0.027	0.55341	D	0.006	0.13644	B	0.004	0.10090	B	0.565143	0.11296	N	0.676215	1	0.08975	N	1.04	0.26193	L	1.56	0.29866	T	-2.31	0.51319	N	0.077	0.05162	-1.0284	0.20973	T	0.046	0.19839	T	10	0.0044808984	0.00092	T	.	.	.	0.038	0.09825	0.08	0.00663	0.220303561663	0.21668	0.06344826482624687	0.06283	0.0791435430555	0.08904	0.356573522091	0.18886	T	0.078392	0.35880	T	-0.610809	0.00125	T	-0.639774	0.09684	T	0.032085732264013	0.02319	T	0.370463	0.08742	T	0.10039463	0.23705	0.07287894	0.15774	0.11925082	0.28083	0.07877071	0.17672	-2.106	0.03610	T	.	.	0.087	0.13456	B	.;.;.;.	.;.;.;.	0.017877	0.04408	1.147	0.28884847701285266	0.01505	0.02608	0.07182	N	AEFBCI	0.024543	0.01538	N	-1.22782441266284	0.04600	0.2079612	-1.32402716503198	0.04122	0.1937447	4.10826198967136E-4	0.06860	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	3.49	-2.07	0.06873	0.251000	0.18025	-0.711000	0.07750	-0.086000	0.16202	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5252:0.0:0.3083:0.1664	3.502	0.07238	626	0.65439	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1359.98	35	chr11	59125014	.	A	G	1359.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.164e+00;DP=917;ExcessHet=0.0000;FS=6.114;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=0.898;SOR=1.254	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	20	0	1	0
chr11	59151775	59151775	G	A	exonic	FAM111A	.	nonsynonymous SNV	FAM111A:NM_001369457:exon3:c.G107A:p.C36Y	Gracile bone dysplasia, Autosomal dominant;Kenny-Caffey syndrome, type 2, Autosomal dominant	.	428	1072	22	0	0	22	0.010157	.	.	752706	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.05	D	0.002	B	0.001	B	0.826	N	1.000	N	0.345	N	0.9	T	-1.021	T	0.058	T	0.183	0.561	7.031	1.23	0.165	-0.164	4.960	0.040	.	0.0004	0.00179712	0.0029	0	0.0005	0	0	0.0008	0.0034	0.0188	0.0023803	368	154602	rs143326650	0.0013	0.0013	0.0008	0.0018	0.0167	0.0012	0.0012	0.0160	0.0157	6.281e-05	0.0002	0.0016	2.524e-05	0	0.0060	0.0002	0.0013	0.0167	0.0006	0.0006	0.0004	0.0008	0.0120	0.0005	0.0005	0.0096	0.0087	7.219e-05	0	0.0003	0.0020	0	0	0	0.0003	0.0014	0.0120	0.022	0.49117	D	0.045	0.49390	D	0.002	0.09854	B	0.001	0.04355	B	0.825835	0.09144	N	0.912601	1	0.08975	N	0.345	0.11182	N	0.9	0.45248	T	-1.76	0.50337	N	0.063	0.03502	-1.0209	0.23421	T	0.058	0.24502	T	10	0.00320369	0.00054	T	.	.	.	0.040	0.10527	.	.	0.132336055621	0.12781	0.12562148334257048	0.12488	0.0254931719734	0.02608	0.276431590319	0.07000	T	0.016882	0.30042	T	-0.606615	0.00133	T	-0.630511	0.10376	T	0.00571938942511619	0.00062	T	0.318368	0.08641	T	0.06359537	0.13407	0.08472309	0.19511	0.050478965	0.09124	0.07409121	0.16172	-4.687	0.33246	T	.	.	0.097	0.23986	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.443511	0.02056	0.188	0.37765248010604441	0.02508	0.05936	0.11892	N	AEFGBCI	0.049157	0.08465	N	-1.29738466777112	0.03707	0.1660839	-1.30135598189309	0.04413	0.2080986	0.999917344028308	0.45857	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.21	1.23	0.20358	-0.065000	0.11575	-1.757000	0.04782	-0.191000	0.09375	0.000000	0.06391	0.000000	0.08366	0.082000	0.17360	0.0:0.4461:0.3587:0.1952	4.960	0.13412	617	0.66297	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	612.98	33	chr11	59151775	.	G	A	612.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.760e+00;DP=729;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.95;ReadPosRankSum=-1.187e+00;SOR=0.752	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1335	20	0	1	0
chr11	59151984	59151984	A	G	exonic	FAM111A	.	nonsynonymous SNV	FAM111A:NM_001369457:exon3:c.A316G:p.M106V	Gracile bone dysplasia, Autosomal dominant;Kenny-Caffey syndrome, type 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1038074	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.28	T	0.0	B	0.0	B	0.067	N	1.000	N	0.41	N	1.74	T	-1.029	T	0.036	T	0.218	0.313	5.695	-2.83	-0.260	-1.250	6.035	0.009	0.00819260521315	.	0.00119808	0.0009	0	0.0002	0	0	0	0.0011	0.0068	0.0007891	122	154602	rs368439990	0.0004	0.0004	0.0002	0.0006	0.0067	0.0004	0.0004	0.0062	0.0061	0	0.0002	0	2.519e-05	0	0.0002	3.597e-06	0.0003	0.0067	0.0002	0.0002	0.0001	0.0002	0.0046	0.0001	9.691e-05	0.0031	0.0026	0	0	0.0001	0	0	0	0	0	0.0005	0.0046	0.289	0.15149	T	0.337	0.18178	T	0.0	0.02946	B	0.0	0.01387	B	0.067217	0.02208	N	1.998650	1	0.08975	N	0.805	0.20218	L	1.74	0.26301	T	-0.25	0.11366	N	0.019	0.00279	-1.0289	0.20811	T	0.036	0.15683	T	10	0.0035627782	0.00064	T	0.008193	0.21700	T	0.009	0.00846	.	.	0.119812018005	0.11559	0.19721559047455342	0.19638	0.0209906097131	0.02072	0.226803764701	0.01740	T	0.007848	0.07229	T	-0.604273	0.00137	T	-0.638022	0.09813	T	0.0226370043177556	0.00980	T	0.483852	0.14720	T	0.029295616	0.02401	0.046225064	0.06395	0.037773333	0.04906	0.04982548	0.07695	-3.012	0.10310	T	0.11178651435494924	0.09598	0.081	0.08417	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.663713	0.01407	0.082	0.35223225566541694	0.02199	0.00504	0.02370	N	AEFDGBHCI	0.013024	0.00160	N	-1.31188525488517	0.03538	0.1582227	-1.33812990480827	0.03947	0.185207	0.999995215225326	0.74766	0.706548	0.73137	0	0.52208	0.09955	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.06	-2.83	0.05425	-1.460000	0.02474	-3.803000	0.02527	-0.064000	0.16601	0.000000	0.06391	0.000000	0.08366	0.564000	0.30507	0.5539:0.0:0.3139:0.1322	6.035	0.18924	617	0.66297	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1669.98	142	chr11	59151984	.	A	G	1669.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.524e+00;DP=842;ExcessHet=0.0000;FS=0.628;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=0.029;SOR=0.623	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1335	20	0	1	0
chr11	59172708	59172708	C	T	exonic	DTX4	.	nonsynonymous SNV	DTX4:NM_015177:exon1:c.C113T:p.P38L,	.	.	.	.	.	.	.	.	.	.	.	3431033	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.33	T	0.0	B	0.001	B	.	.	1.000	D	0.205	N	1.03	T	-1.098	T	0.056	T	0.1	1.950	12.48	3.21	0.838	0.986	9.345	0.071	0.134311941727	.	.	0.0001	0	0	0	0	0.0001	0	0.0003	5.82e-05	9	154602	rs765272910	3.86e-05	3.899e-05	3.426e-05	4.298e-05	0.0007	3.048e-05	2.74e-05	0.0002	0.0002	0	0	0	0	0	0.0007	1.984e-05	6.687e-05	0.0003	4.614e-05	4.598e-05	2.576e-05	6.749e-05	0.0004	2.115e-05	1.531e-05	7.299e-05	3.032e-05	0	0	0	0	0	0	0	7.367e-05	0	0.0004	0.289	0.15047	T	0.621	0.07419	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999982	0.81001	D	2.045	0.56016	M	1.03	0.40469	T	-1.94	0.45042	N	0.136	0.13341	-1.0978	0.04367	T	0.056	0.23413	T	9	0.059616238	0.07195	T	0.134312	0.81673	D	0.071	0.20720	0.525	0.62967	0.382940591053	0.37911	0.7394737173334882	0.73892	0.575609084171	0.53551	0.921503186226	0.98436	D	0.05249	0.29175	T	-0.476988	0.00770	T	-0.602927	0.12566	T	0.0509946439815075	0.05673	T	0.752425	0.37456	T	0.09265665	0.21743	0.17561732	0.40039	0.09265665	0.21743	0.17561732	0.40039	-5.328	0.40219	T	.	.	0.232	0.46447	B	.	.	3.977069	0.58442	24.0	0.98651950597633342	0.44206	0.19893	0.20836	N	ALL	0.116386	0.22845	N	-0.745359071149468	0.14759	0.7379818	-0.666992742836865	0.17789	0.9474105	0.999999999969643	0.74766	0.455138	0.09556	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56751	0.32155	0	.	.	4.13	3.21	0.35933	1.681000	0.37234	6.993000	0.57168	0.522000	0.23927	0.118000	0.23139	1.000000	0.68203	0.996000	0.76049	0.0:0.8944:0.0:0.1056	9.345	0.37262	618	0.66225	WWE domain|WWE domain|WWE domain, subgroup	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1126.98	33	chr11	59172708	.	C	T	1126.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.228e+00;DP=781;ExcessHet=0.0000;FS=0.820;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=0.914;SOR=0.577	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1025	20	0	1	0
chr11	59210719	59210719	G	A	exonic	MPEG1	.	nonsynonymous SNV	MPEG1:NM_001039396:exon1:c.C2147T:p.A716V,	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.005	B	0.007	B	0.673	N	0.966	N	1.79	L	1.91	T	-0.997	T	0.059	T	0.17	1.568	11.20	0.613	0.198	0.253	6.748	0.060	.	.	0.00439297	0.0027	0.0002	8.66e-05	0	0	0	0.0011	0.0217	0.0022445	347	154602	rs201054934	0.0011	0.0011	0.0006	0.0016	0.0173	0.0010	0.0010	0.0166	0.0163	0	0.0001	0	5.039e-05	0	0.0004	5.399e-06	0.0012	0.0173	0.0006	0.0006	0.0003	0.0008	0.0172	0.0005	0.0004	0.0142	0.0131	0	0	0.0001	0	0	0	0	0	0.0005	0.0172	0.0	0.91255	D	0.0	0.92824	D	0.005	0.12996	B	0.007	0.12992	B	0.673218	0.10322	N	0.819085	0.966392	0.25896	N	0	0.06538	N	1.91	0.23283	T	-1.12	0.28906	N	0.076	0.05037	-0.9971	0.30728	T	0.059	0.24649	T	10	0.0033496916	0.00058	T	.	.	.	0.060	0.17295	.	.	0.16115917748	0.15686	0.36191757578675365	0.36105	0.0750969908388	0.08427	0.289600133896	0.08864	T	0.001914	0.01327	T	-0.562275	0.00246	T	-0.56682	0.15742	T	0.0754772663341812	0.09398	T	0.60154	0.22486	T	0.13774619	0.31882	0.19734819	0.43512	0.13774619	0.31882	0.19734819	0.43511	-3.204	0.12530	T	.	.	0.104	0.18910	B	.	.	2.023632	0.25718	16.86	0.98801129850801706	0.46461	0.33022	0.24727	N	AEFGBHCI	0.136973	0.25781	N	-0.658609296684416	0.17209	0.8836377	-0.682513987748158	0.17398	0.924929	0.999998044558073	0.74766	0.497415	0.19182	0	0.52208	0.09955	0	0.514364	0.09456	0	0.542086	0.14980	0	.	.	5.69	0.613	0.16773	0.236000	0.17745	3.557000	0.39072	0.676000	0.76740	0.050000	0.21411	1.000000	0.68203	0.086000	0.17578	0.552:0.0:0.448:0.0	6.748	0.22659	559	0.71409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	636.98	39	chr11	59210719	.	G	A	636.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.29;DP=722;ExcessHet=0.0000;FS=5.237;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.33;ReadPosRankSum=-1.389e+00;SOR=1.751	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1190	20	0	1	0
chr11	59211743	59211743	T	C	exonic	MPEG1	.	nonsynonymous SNV	MPEG1:NM_001039396:exon1:c.A1123G:p.N375D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.996	D	0.000	D	0.999	D	2.54	M	1.62	T	-0.676	T	0.207	T	0.407	2.838	15.45	5.73	2.198	7.234	13.546	0.391	0.0273884487632	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1322244133	1.573e-05	1.573e-05	1.225e-05	1.925e-05	0.0001	1.048e-05	8.75e-06	5.849e-05	3.758e-05	0.0001	0	0	0	0	0	1.349e-05	4.967e-05	0	6.578e-06	6.568e-06	0	1.347e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.01	0.56456	D	0.016	0.60972	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999499	0.47278	D	3.165	0.88605	M	1.62	0.28189	T	-4.75	0.80256	D	0.76	0.75834	-0.6757	0.61570	T	0.207	0.56581	T	10	0.825362	0.81718	D	0.027388	0.50205	D	0.391	0.70684	0.642	0.77903	0.486779940545	0.48312	0.7329388244103043	0.73238	0.445424986168	0.44433	0.57258272171	0.49043	T	0.198404	0.55538	T	-0.0567883	0.43408	T	-0.303863	0.44316	T	0.957681715488434	0.65074	D	0.691131	0.30052	T	0.72573465	0.79482	0.5543208	0.74225	0.72573465	0.79484	0.5543208	0.74225	-3.422	0.15354	T	.	.	0.244	0.47837	B	.	.	4.048566	0.59987	24.2	0.99662587555299686	0.78011	0.98170	0.80208	D	AEFDGBCI	0.947244	0.95759	D	0.706032391817661	0.80028	7.204363	0.63348678382006	0.77386	6.66935	0.99999999999125	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.73	5.73	0.89730	7.207000	0.77409	7.872000	0.72015	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.241000	0.23027	0.0:0.0:0.0:1.0	13.546	0.61163	559	0.71409	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1983.98	38	chr11	59211743	.	T	C	1983.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.820e-01;DP=952;ExcessHet=0.0000;FS=1.194;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.81;ReadPosRankSum=0.322;SOR=0.796	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr11	59212176	59212176	C	A	exonic	MPEG1	.	nonsynonymous SNV	MPEG1:NM_001039396:exon1:c.G690T:p.Q230H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.794	P	0.754	P	0.546	N	1.000	N	2.075	M	-1.86	D	-0.242	T	0.649	D	0.16	0.689	7.680	3.33	0.601	2.699	8.965	0.284	0.0386436514016	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1398308191	1.573e-05	1.573e-05	1.225e-05	1.925e-05	0.0001	1.048e-05	8.75e-06	5.849e-05	3.758e-05	0.0001	0	0	0	0	0	1.349e-05	4.967e-05	0	6.57e-06	6.567e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.044	0.41096	D	0.103	0.38305	T	0.794	0.44757	P	0.754	0.56161	P	0.545718	0.11489	N	0.794535	1	0.08975	N	2.665	0.77964	M	-1.86	0.84341	D	-1.96	0.45404	N	0.146	0.14763	-0.2423	0.76566	T	0.649	0.87758	D	10	0.16884449	0.31459	T	0.038644	0.58347	D	0.284	0.60219	0.35	0.34760	0.463068873536	0.45932	0.45622635702734377	0.45540	0.308157786748	0.33120	0.282615125179	0.07860	T	0.010503	0.09483	T	-0.0298647	0.47436	T	-0.265189	0.48304	T	0.301234566266385	0.25055	T	0.562144	0.19728	T	0.25917608	0.48970	0.14276937	0.33953	0.25917608	0.48970	0.14276937	0.33952	-4.726	0.33718	T	.	.	0.128	0.27313	B	.	.	2.283041	0.29193	18.04	0.98321594224170583	0.40251	0.41861	0.26751	N	AEFDGBCI	0.418536	0.48613	N	0.0152664167873277	0.42550	2.565823	-0.108208060478752	0.35059	2.023808	0.999999357366148	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.21	3.33	0.37245	2.753000	0.47203	1.428000	0.26422	0.596000	0.33519	0.297000	0.25297	0.195000	0.23527	0.011000	0.09372	0.0:0.8242:0.0:0.1758	8.965	0.35031	559	0.71409	Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2226.98	38	chr11	59212176	.	C	A	2226.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.639e+00;DP=934;ExcessHet=0.0000;FS=4.976;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=0.00;QD=14.85;ReadPosRankSum=-1.475e+00;SOR=1.116	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr11	59212828	59212828	G	A	exonic	MPEG1	.	nonsynonymous SNV	MPEG1:NM_001039396:exon1:c.C38T:p.A13V,	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.819	N	1.000	N	-0.51	N	2.04	T	-0.988	T	0.007	T	0.048	-0.421	2.035	2.01	0.403	0.014	7.616	0.019	.	0.0076	0.00858626	0.0026	0.0260	0.0013	0	0	3.028e-05	0.0011	0.0023	0.0023609	365	154602	rs75908034	0.0009	0.0009	0.0010	0.0008	0.0277	0.0008	0.0008	0.0262	0.0256	0.0277	0.0015	0	2.519e-05	0	0.0005	3.148e-05	0.0017	0.0017	0.0078	0.0079	0.0076	0.0080	0.0270	0.0075	0.0073	0.0257	0.0252	0.0270	0	0.0029	0	0	0	0	5.88e-05	0.0057	0.0019	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.818769	0.09195	N	0.917727	1	0.08975	N	-1.395	0.00601	N	2.04	0.20808	T	0.73	0.02068	N	0.098	0.07949	-0.9881	0.33077	T	0.007	0.02244	T	10	0.0024175346	0.00036	T	.	.	.	0.019	0.03383	.	.	0.0920862733494	0.08535	0.3590470862790838	0.35818	0.0717544587107	0.08041	0.241576880217	0.02934	T	0.002516	0.01904	T	-0.7377	0.00021	T	-0.811482	0.01632	T	0.000850894764957265	0.00008	T	0.214779	0.02659	T	0.019197099	0.00446	0.031858798	0.01835	0.019197099	0.00446	0.031858798	0.01835	-3.066	0.10909	T	.	.	0.065	0.01960	B	.	.	0.047732	0.04620	1.286	0.72076719616062157	0.09848	0.00439	0.02144	N	AEFDGBHCI	0.036678	0.04925	N	-1.37900487436732	0.02835	0.1257706	-1.28860439325957	0.04584	0.2165462	0.999999838062315	0.74766	0.497415	0.19182	0	0.52208	0.09955	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.52	2.01	0.25568	-0.060000	0.11669	0.635000	0.20265	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.065000	0.16320	0.7542:0.0:0.2458:0.0	7.616	0.27323	559	0.71409	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1866.98	38	chr11	59212828	.	G	A	1866.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.500e-02;DP=903;ExcessHet=0.0000;FS=6.052;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.82;ReadPosRankSum=-5.030e-01;SOR=1.255	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr11	59457550	59457550	T	G	exonic	OR4D6	.	nonsynonymous SNV	OR4D6:NM_001004708:exon1:c.T590G:p.L197R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.967	D	0.93	D	0.015	N	1.000	N	2.315	M	8.53	T	-0.943	T	0.001	T	0.598	3.022	16.08	2.16	0.478	1.433	6.689	0.084	0.00498800520926	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338112458	4.788e-06	4.788e-06	4.084e-06	5.5e-06	0.0002	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	0	0	0	0	0.0002	5.396e-06	0	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.967	0.56408	D	0.93	0.66466	D	0.014623	0.28476	N	0.149852	1	0.08975	N	2.37	0.68279	M	8.53	0.00198	T	-4.97	0.82063	D	0.494	0.52740	-0.9431	0.42121	T	0.001	0.00438	T	10	0.59350276	0.66512	D	0.004988	0.12598	T	0.084	0.24469	0.647	0.78436	0.631890121941	0.62887	0.63858794511736	0.63792	0.47644623831	0.46775	0.257723689079	0.04623	T	0.012037	0.10647	T	-0.0922345	0.37706	T	-0.370265	0.36859	T	0.978903770446777	0.72559	D	0.719828	0.33277	T	0.7755412	0.82381	0.8043115	0.88541	0.7755412	0.82383	0.8043115	0.88541	-8.399	0.63758	D	.	.	0.157	0.34624	B	.	.	3.553394	0.49967	22.9	0.99665092411865552	0.78202	0.37988	0.25886	N	AEFBI	0.131529	0.25050	N	0.208493630426054	0.51610	3.340887	0.0930076971506981	0.44195	2.706069	5.12613586069093E-6	0.01202	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.0	2.16	0.26663	0.919000	0.28312	0.775000	0.21430	0.665000	0.62972	0.012000	0.18695	0.005000	0.19230	0.978000	0.57271	0.2395:0.0:0.2476:0.5129	6.689	0.22348	266	0.89551	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2371.98	145	chr11	59457550	.	T	G	2371.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.128e+00;DP=2413;ExcessHet=0.0000;FS=1.120;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=-2.080e-01;SOR=0.599	GT:AD:DP:GQ:PL	0/0:175,0:175:99:0,120,1800	20	0	1	0
chr11	59576655	59576655	C	G	exonic	OSBP	.	nonsynonymous SNV	OSBP:NM_002556:exon14:c.G2346C:p.E782D,	.	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.062	B	0.123	B	0.000	D	1.000	D	1.3	L	1.48	T	-1.078	T	0.065	T	0.715	2.466	14.20	3.79	1.384	1.623	9.718	0.131	0.00913152403683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.381	0.15939	T	0.062	0.23277	B	0.123	0.32463	B	0.000000	0.84330	D	0.048661	0.999998	0.58761	D	2.035	0.55589	M	1.48	0.31731	T	-1.06	0.27669	N	0.501	0.53357	-1.0779	0.07761	T	0.065	0.26983	T	10	0.22170949	0.38902	T	0.009132	0.24012	T	0.131	0.35738	0.474	0.55020	0.5531981094	0.54978	0.7577891793986536	0.75726	1.95920376204	0.93432	0.558212161064	0.47015	T	0.107615	0.41997	T	0.00300081	0.52069	T	-0.233466	0.51436	T	0.585588693618774	0.35834	D	0.823618	0.48435	T	0.15926202	0.35786	0.14158715	0.33713	0.15926202	0.35785	0.14158715	0.33712	-5.979	0.46104	T	.	.	0.221	0.45211	B	.	.	3.597587	0.50803	23.0	0.99334880091535604	0.59934	0.95455	0.64789	D	AEFBI	0.299406	0.40847	N	-0.138994189253905	0.35704	2.054226	-0.00103502876686945	0.39670	2.355603	0.851910093261301	0.25060	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	3.79	0.42757	1.698000	0.37413	4.041000	0.41425	0.599000	0.40250	0.851000	0.30461	1.000000	0.68203	0.999000	0.91618	0.0:0.7799:0.0:0.2201	9.718	0.39452	408	0.82256	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1567.98	34	chr11	59576655	.	C	G	1567.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.200e-01;DP=829;ExcessHet=0.0000;FS=2.397;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=-2.580e-01;SOR=0.460	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1299	20	0	1	0
chr11	59773224	59773224	A	G	exonic	STX3	.	nonsynonymous SNV	STX3:NM_001178040:exon2:c.A44G:p.Q15R	.	.	428	1092	2	0	0	2	0.000914913	.	.	712899	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.08	T	0.0	B	0.002	B	0.106	N	1.000	D	0	N	1.7	T	-1.102	T	0.026	T	0.216	1.260	10.11	5.21	2.186	2.976	11.387	0.036	.	0.0052	0.00499201	0.0032	0.0070	0.0016	0	0.0048	0.0039	0.0022	0.0004	0.0033247	514	154602	rs2229915	0.0044	0.0044	0.0045	0.0043	0.0109	0.0043	0.0043	0.0100	0.0096	0.0109	0.0019	0.0032	0	0.0052	0.0026	0.0048	0.0043	0.0005	0.0051	0.0051	0.0052	0.0050	0.0073	0.0048	0.0047	0.0067	0.0064	0.0073	0.0231	0.0038	0.0040	0	0.0057	0.0034	0.0045	0.0038	0.0002	0.343	0.12592	T	0.458	0.18560	T	0.0	0.02946	B	0.002	0.06944	B	0.106329	0.19619	N	0.534209	1	0.81001	D	0.895	0.22405	L	1.7	0.37746	T	-0.85	0.23156	N	0.379	0.45047	-1.1021	0.03846	T	0.026	0.10998	T	10	0.0053287446	0.00117	T	.	.	.	0.036	0.09122	.	.	0.667616128244	0.66481	0.24019144987868132	0.23933	0.0981725950448	0.11081	0.670009255409	0.62839	T	0.050449	0.28598	T	-0.498146	0.00586	T	-0.483201	0.24106	T	0.0206665013447125	0.00766	T	0.79622	0.43953	T	0.1974318	0.41607	0.0740622	0.16163	0.1974318	0.41607	0.0740622	0.16162	-4.236	0.28232	T	.	.	0.094	0.14568	B	.;.;.	.;.;.	2.825800	0.37236	20.4	0.92827286030076006	0.22357	0.90593	0.51898	D	AEFDBI	0.560315	0.56877	D	-0.255944421994294	0.30867	1.725208	-0.0501762424452484	0.37481	2.195243	0.999999763463035	0.74766	0.744818	0.98587	0	0.588066	0.40923	0	0.743671	0.96076	0	0.76194	0.99817	0	.	.	5.21	5.21	0.72005	3.952000	0.56399	8.060000	0.76395	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.518000	0.29429	1.0:0.0:0.0:0.0	11.387	0.49034	789	0.46346	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2104.98	41	chr11	59773224	.	A	G	2104.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.902e+00;DP=928;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.02;ReadPosRankSum=-7.300e-02;SOR=0.663	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1180	20	0	1	0
chr11	59835884	59835884	T	C	exonic	CBLIF	.	nonsynonymous SNV	CBLIF:NM_005142:exon7:c.A997G:p.I333V,	.	.	.	.	.	.	.	.	.	.	.	1924642	not_specified|Hereditary_intrinsic_factor_deficiency	MedGen:CN169374|MONDO:MONDO:0009852,MedGen:C1394891,OMIM:261000,Orphanet:332	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.48	T	0.001	B	0.001	B	0.616	N	1.000	N	0.895	L	1.11	T	-1.028	T	0.067	T	0.061	-1.216	0.064	1.12	0.326	0.487	3.315	0.038	0.00336016779469	7.7e-05	0.000199681	5.765e-05	0.0006	8.637e-05	0	0	0	0	0	5.17e-05	8	154602	rs146744565	1.231e-05	1.231e-05	1.497e-05	9.626e-06	0.0002	7.7e-06	6.35e-06	0.0001	8.675e-05	0.0002	8.944e-05	0	0	0	0	8.993e-07	8.279e-05	0	0.0001	0.0001	0.0001	0.0001	0.0005	9.737e-05	8.252e-05	0.0003	0.0003	0.0005	0	0.0001	0	0	0	0	0	0	0	0.467	0.08559	T	0.531	0.10069	T	.	.	.	.	.	.	0.615929	0.05728	N	1.203820	0.999996	0.08975	N	.	.	.	1.11	0.38883	T	0.17	0.05125	N	0.046	0.01825	-1.0275	0.21266	T	0.067	0.27502	T	10	0.025496125	0.00742	T	0.00336	0.07512	T	0.038	0.09825	.	.	0.191931220699	0.18833	0.2590255153307005	0.25816	0.100179550336	0.11320	0.34626275301	0.17371	T	.	.	.	-0.579174	0.00195	T	-0.697456	0.05966	T	0.0173259111160439	0.00472	T	0.649735	0.26051	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04238	B	.	.	0.716134	0.10854	7.528	0.25672085947885653	0.01194	0.08626	0.14529	N	AEFI	0.053313	0.09594	N	-0.811630922231624	0.13012	0.6381395	-0.772920700748837	0.15161	0.7959191	9.1781544193774E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.89	1.12	0.19700	0.526000	0.22680	1.146000	0.24443	0.665000	0.62972	0.539000	0.27259	0.884000	0.27742	0.044000	0.14658	0.0:0.2268:0.21:0.5632	3.315	0.06616	799	0.44747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1555.98	34	chr11	59835884	.	T	C	1555.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.078;DP=828;ExcessHet=0.0000;FS=3.194;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.25;ReadPosRankSum=0.668;SOR=1.000	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1311	20	0	1	0
chr11	59861593	59861593	C	T	exonic	TCN1	.	nonsynonymous SNV	TCN1:NM_001062:exon4:c.G490A:p.A164T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.001	B	0.001	B	0.336	N	1.000	N	-0.6	N	1.32	T	-1.040	T	0.024	T	0.033	-0.604	1.304	-8.08	-0.922	-1.490	0.213	0.080	0.00200100236893	.	0.000399361	6.59e-05	9.61e-05	0	0.0001	0	7.493e-05	0	6.056e-05	7.12e-05	11	154602	rs77116206	3.147e-05	3.147e-05	2.45e-05	3.85e-05	0.0002	2.412e-05	2.158e-05	2.995e-05	2.038e-05	5.974e-05	4.472e-05	0	2.52e-05	3.744e-05	0.0002	2.698e-05	3.312e-05	6.956e-05	5.912e-05	5.906e-05	7.712e-05	4.03e-05	8.821e-05	3.076e-05	2.209e-05	3.762e-05	2.575e-05	2.408e-05	0	6.536e-05	0	0	9.429e-05	0	8.821e-05	0	0	0.809	0.03044	T	0.655	0.06621	T	0.001	0.07471	B	0.001	0.04355	B	0.336276	0.04160	N	1.470240	1	0.08975	N	-1.115	0.00953	N	1.32	0.35219	T	-0.2	0.10136	N	0.058	0.02964	-1.0399	0.17343	T	0.024	0.10058	T	10	0.027322263	0.00880	T	0.002001	0.03615	T	0.080	0.23350	.	.	0.128392430309	0.12331	0.06623236863472835	0.06562	0.015659296278	0.01497	0.322677075863	0.13826	T	0.010645	0.09594	T	-0.557212	0.00264	T	-0.856645	0.00880	T	0.0341730825603008	0.02667	T	0.347765	0.07665	T	0.05061911	0.09171	0.042971984	0.05241	0.05061911	0.09171	0.042971984	0.05241	-3.276	0.13429	T	.	.	0.065	0.02038	B	.	.	-1.119676	0.00617	0.016	0.23262274505006184	0.00975	0.00252	0.01388	N	AEFBI	0.018053	0.00518	N	-2.07153816109259	0.00148	0.006328727	-2.08421172795135	0.00202	0.008880346	0.999271559193719	0.38974	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.633917	0.49826	0	.	.	5.12	-8.08	0.00965	-1.512000	0.02362	-3.215000	0.02964	-1.894000	0.00530	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2916:0.245:0.2362:0.2272	0.213	0.00147	730	0.54327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	973.98	33	chr11	59861593	.	C	T	973.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.073e+00;DP=781;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=0.514;SOR=0.786	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1164	20	0	1	0
chr11	60024972	60024972	C	G	exonic	OOSP4B	.	nonsynonymous SNV	OOSP4B:NM_001368161:exon2:c.C302G:p.T101S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs560285775	0.0012	0.0005	0.0011	0.0012	0.0016	0.0011	0.0010	0.0014	0.0014	0	0.0005	0.0001	0	0.0007	0	0.0016	0.0007	0	0.0008	0.0008	0.0008	0.0007	0.0015	0.0006	0.0006	0.0013	0.0012	0.0001	0	0.0001	0.0003	0.0002	9.436e-05	0	0.0015	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07175374	0.10621	T	.	.	.	.	.	.	.	.	.	0.0014541248420841051	0.00134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03200602	0.03145	0.069666065	0.14707	0.03200602	0.03144	0.069666065	0.14707	-3.224	0.12776	T	.	.	0.140	0.30660	B	.	.	-0.472612	0.01957	0.168	0.4297835191285489	0.03204	0.00261	0.01428	N	AEFI	.	.	.	.	.	.	.	.	.	9.46776892822059E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.0448725	0.03863	2.21	-3.34	0.04635	-0.695000	0.05211	-1.018000	0.06590	-0.349000	0.05595	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.2839:0.3952:0.3209	3.762	0.08130	804	0.43891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1997.79	151	chr11	60024972	.	C	G	1997.79	.	AC=1;AF=0.125;AN=8;BaseQRankSum=0.885;DP=151;ExcessHet=0.0000;FS=1.340;MLEAC=4;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=0.277;SOR=0.863	GT:AD:DP:GQ:PL	./.	3	0	1	17
chr11	60179877	60179877	G	A	exonic	MS4A6A	.	nonsynonymous SNV	MS4A6A:NM_001330275:exon3:c.C320T:p.T107I	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.001	B	0.590	N	1.000	N	-1.065	N	3.79	T	-0.941	T	0.128	T	0.05	-0.728	0.884	-3.59	-0.744	-0.344	4.394	0.006	0.0168122089355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.614	0.06935	T	0.492	0.12316	T	0.0	0.02946	B	0.001	0.04355	B	0.590021	0.11059	N	0.800945	1	0.08975	N	-1.385	0.00624	N	3.78	0.80815	T	1.37	0.01051	N	0.121	0.11626	-0.9414	0.42394	T	0.128	0.43625	T	9	0.041385233	0.02790	T	0.016812	0.38239	T	0.006	0.00375	0.345	0.33950	0.487772906946	0.48408	0.1503286058014669	0.14954	0.0495021571329	0.05423	0.309618502855	0.11850	T	1.36E-4	0.00611	T	-0.251963	0.13860	T	-0.599704	0.12835	T	0.0221075182377133	0.00921	T	0.435856	0.11948	T	0.028259171	0.02137	0.03909373	0.03923	0.028259171	0.02136	0.03909373	0.03923	-3.196	0.18321	T	.	.	0.091	0.14201	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.197548	0.03103	0.491	0.17810886946528734	0.00534	0.00141	0.00861	N	AEFBI	0.285048	0.39776	N	-1.94458725454174	0.00277	0.0119035	-1.92017108795932	0.00446	0.01975492	0.999920731096788	0.46280	0.625279	0.40028	0	0.588066	0.40923	0	0.573888	0.23631	0	0.59522	0.37078	0	.	.	4.32	-3.59	0.04290	-0.266000	0.08660	1.384000	0.26059	-1.562000	0.00946	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.553:0.0:0.2712:0.1758	4.394	0.10784	781	0.47532	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1505.98	33	chr11	60179877	.	G	A	1505.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.470;DP=898;ExcessHet=0.0000;FS=1.670;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.06;ReadPosRankSum=-8.810e-01;SOR=0.920	GT:AD:DP:GQ:PL	0/1:43,57:100:99:1520,0,1063	20	0	1	0
chr11	60386730	60386730	G	A	exonic	MS4A7	.	nonsynonymous SNV	MS4A7:NM_206938:exon3:c.G161A:p.G54E	.	.	.	.	.	.	.	.	.	.	.	2346822	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.185	M	2.02	T	0.190	D	0.528	D	0.896	1.713	11.69	3.81	2.132	3.602	11.412	0.449	0.0703340838963	0.0005	.	0.0004	9.614e-05	0.0003	0	0	0.0006	0.0022	0.0005	0.0004075	63	154602	rs36102108	0.0008	0.0008	0.0008	0.0007	0.0010	0.0008	0.0007	0.0009	0.0009	8.972e-05	0.0002	0	0	0	0	0.0010	0.0006	0.0004	0.0004	0.0004	0.0003	0.0004	0.0007	0.0003	0.0003	0.0006	0.0005	0.0001	0	0	0	0	0	0	0.0007	0	0.0002	0.002	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	3.775	0.95212	H	2.02	0.69287	T	-7.44	0.96495	D	0.803	0.79889	0.190	0.85734	D	0.528	0.82453	D	10	0.62197685	0.68029	D	0.070334	0.70974	D	0.449	0.75004	.	.	0.811427828562	0.80966	0.8517652799886791	0.85138	0.233751173166	0.25910	0.402386009693	0.25401	T	0.249537	0.61951	T	0.0240561	0.54928	T	0.237151	0.85012	D	0.434992611408234	0.30245	T	0.788221	0.42759	T	0.91629344	0.92889	0.8361018	0.90583	0.91629344	0.92890	0.8361018	0.90583	-9.009	0.67756	D	.	.	0.894	0.82369	P	.;.;.;.;.	.;.;.;.;.	3.905753	0.56920	23.8	0.9905670037821741	0.51390	0.62983	0.31948	D	AEFBI	0.294447	0.40482	N	0.395960456902336	0.61204	4.318251	0.17431901744681	0.48444	3.060253	0.798273050782624	0.24139	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.81	3.81	0.43020	4.002000	0.56766	8.504000	0.77368	0.676000	0.76740	0.980000	0.35271	1.000000	0.68203	0.010000	0.09038	0.0:0.0:1.0:0.0	11.412	0.49171	826	0.39940	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1203.98	33	chr11	60386730	.	G	A	1203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.250e-01;DP=818;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.95;ReadPosRankSum=1.33;SOR=0.668	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1341	20	0	1	0
chr11	60416536	60416536	A	C	exonic	MS4A14	.	nonsynonymous SNV	MS4A14:NM_001079692:exon4:c.A1517C:p.K506T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.995	D	0.882	P	0.005	N	1.000	N	1.83	L	2.99	T	-1.079	T	0.169	T	0.124	2.303	13.66	2.59	0.575	1.425	4.331	0.041	0.00606245381162	.	0.000599042	0.0007	0	0	0	0	1.511e-05	0.0011	0.0050	0.0005821	90	154602	rs199505839	0.0002	0.0002	0.0002	0.0003	0.0035	0.0002	0.0002	0.0032	0.0031	2.987e-05	0	0	2.519e-05	0	0.0003	1.439e-05	0.0004	0.0035	0.0001	0.0001	7.713e-05	0.0002	0.0035	7.574e-05	6.279e-05	0.0022	0.0018	2.406e-05	0	0	0	0	0	0	0	0	0.0035	0.039	0.68238	D	0.054	0.58089	T	0.991	0.67487	D	0.766	0.62632	P	0.004872	0.01049	N	3.380750	1	0.08975	N	2.14	0.59869	M	1.4	0.33630	T	-2.17	0.51646	N	0.125	0.15187	-1.0786	0.07622	T	0.169	0.50987	T	10	0.006739706	0.00153	T	0.006062	0.15846	T	0.041	0.10877	0.242	0.17524	0.226586394389	0.22295	.	.	0.246966307126	0.27230	0.258766889572	0.04745	T	0.077718	0.35722	T	-0.550378	0.00290	T	-0.562952	0.16101	T	0.112776308289234	0.13709	T	0.644036	0.28770	T	0.09627433	0.22674	0.0492989	0.07504	0.09627433	0.22673	0.0492989	0.07503	-8.065	0.61513	D	.	.	0.185	0.44174	B	.;.;.;.;.	.;.;.;.;.	1.834505	0.23309	15.97	0.99524427792719417	0.69469	0.09745	0.15431	N	AEFI	0.114167	0.22497	N	-0.21914179448104	0.32349	1.823378	-0.438166580216487	0.23886	1.305	3.06599054619375E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.74	2.59	0.30091	1.073000	0.30302	1.350000	0.25801	0.756000	0.94297	0.004000	0.16614	0.005000	0.19230	0.062000	0.16114	0.6843:0.2027:0.1131:0.0	4.331	0.10505	839	0.37672	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1928.98	98	chr11	60416536	.	A	C	1928.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.807;DP=1769;ExcessHet=0.0000;FS=0.647;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.73;ReadPosRankSum=-9.530e-01;SOR=0.779	GT:AD:DP:GQ:PL	0/0:94,0:94:99:0,120,1800	20	0	1	0
chr11	60767632	60767632	G	A	exonic	MS4A15	.	nonsynonymous SNV	MS4A15:NM_152717:exon2:c.G46A:p.V16I	.	.	407	1105	10	0	0	10	0.0045045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.102	B	0.072	B	0.010	N	1.000	N	0.095	N	4.34	T	-0.965	T	0.004	T	0.109	1.420	10.69	2.75	1.052	1.994	3.860	0.059	.	0.0037	0.00399361	0.0047	0.0003	0.0025	0.0011	0.0161	0.0099	0.0114	0.0001	0.0028654	443	154602	rs76307175	0.0066	0.0065	0.0067	0.0066	0.0076	0.0065	0.0065	0.0075	0.0074	0.0009	0.0055	0.0016	0.0005	0.0089	0.0070	0.0076	0.0056	0.0003	0.0059	0.0059	0.0054	0.0064	0.0085	0.0056	0.0054	0.0079	0.0077	0.0013	0.0099	0.0073	0.0014	0.0015	0.0104	0.0136	0.0085	0.0071	0	0.798	0.15823	T	0.211	0.26631	T	0.102	0.25827	B	0.072	0.28043	B	0.009907	0.30147	N	0.320649	1	0.81001	D	0.315	0.10303	N	4.34	0.02341	T	-0.06	0.07882	N	0.248	0.28381	-0.9654	0.38132	T	0.004	0.01159	T	10	0.014348596	0.00302	T	.	.	.	0.059	0.16972	.	.	0.0297737177859	0.01360	0.15485182601025066	0.15406	0.150298648537	0.16954	0.479286491871	0.35959	T	0.010633	0.09586	T	-0.621139	0.00108	T	-0.654611	0.08633	T	0.00923317184378616	0.00117	T	0.535446	0.19565	T	0.042698316	0.06523	0.06437436	0.12892	0.042698316	0.06523	0.06437436	0.12891	-1.88	0.02759	T	.	.	0.078	0.08705	B	.;.	.;.	2.954998	0.39332	20.9	0.99187109999221479	0.54848	0.36800	0.25616	N	AEFBHCI	0.030623	0.03118	N	-0.436530154682734	0.24198	1.304967	-0.290202360697401	0.28421	1.584525	0.999999961931459	0.74766	0.59774	0.34471	0	0.600433	0.49495	0	0.596394	0.31383	0	0.63947	0.58350	0	.	.	4.93	2.75	0.31439	2.651000	0.46338	6.857000	0.56753	0.590000	0.31872	0.992000	0.37556	1.000000	0.68203	0.651000	0.32720	0.1587:0.2552:0.5861:0.0	3.860	0.08500	754	0.51307	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	513.98	37	chr11	60767632	.	G	A	513.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.00;DP=819;ExcessHet=0.0000;FS=4.237;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=0.051;SOR=1.414	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	20	0	1	0
chr11	60869160	60869160	G	A	exonic	ZP1	.	nonsynonymous SNV	ZP1:NM_207341:exon2:c.G212A:p.R71Q,	Oocyte maturation defect 1, Autosomal recessive	.	149	1343	27	3	0	33	0.0121368	.	.	2224241	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.36	T	0.01	B	0.001	B	0.813	N	1.000	N	1.735	L	1.91	T	-1.001	T	0.033	T	0.093	0.413	6.245	-5.18	-0.989	-1.374	7.474	0.027	0.00510725465637	0.0040	0.00319489	0.0033	0.0027	0.0021	0.0002	0.0005	0.0036	0.0022	0.0060	0.0032341	500	154602	rs140966353	0.0036	0.0036	0.0035	0.0037	0.0123	0.0035	0.0035	0.0100	0.0092	0.0023	0.0026	0.0072	5.038e-05	0.0003	0.0123	0.0036	0.0043	0.0056	0.0029	0.0029	0.0028	0.0030	0.0046	0.0027	0.0026	0.0032	0.0030	0.0025	0	0.0041	0.0078	0	0.0006	0.0102	0.0031	0.0038	0.0046	0.279	0.15561	T	0.331	0.18505	T	0.01	0.15535	B	0.001	0.04355	B	0.813309	0.09234	N	0.892825	1	0.08975	N	0.46	0.12951	N	1.91	0.23283	T	-0.35	0.12847	N	0.314	0.35408	-1.0011	0.29602	T	0.033	0.14029	T	10	0.007021308	0.00160	T	0.005107	0.12970	T	0.027	0.05988	.	.	0.0482279557977	0.04254	0.4175740929164195	0.41673	0.0750845404494	0.08422	0.270309835672	0.06182	T	0.033341	0.22872	T	-0.691409	0.00041	T	-0.764433	0.02956	T	0.00270313092441496	0.00028	T	0.725427	0.33942	T	0.041597556	0.06155	0.041831125	0.04843	0.03818147	0.05038	0.035043903	0.02681	-4.572	0.31818	T	0.13999414575074068	0.15628	0.082	0.08948	B	.	.	0.521294	0.08901	5.681	0.9543046288191338	0.26922	0.01474	0.04912	N	AEFGBI	0.041938	0.06443	N	-1.18969183863936	0.05155	0.2343442	-1.3221762622758	0.04145	0.1948726	0.999019229266028	0.38212	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.19	-5.18	0.02624	-1.189000	0.03170	-3.097000	0.03064	0.509000	0.23192	0.000000	0.06391	0.000000	0.08366	0.837000	0.39485	0.1948:0.331:0.4742:0.0	7.474	0.26533	658	0.62094	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	1570.98	37	chr11	60869160	.	G	A	1570.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.284;DP=843;ExcessHet=0.0000;FS=1.296;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.40;ReadPosRankSum=1.24;SOR=0.836	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,112,1417	20	0	1	0
chr11	60935951	60935951	G	A	exonic	TMEM132A	.	nonsynonymous SNV	TMEM132A:NM_017870:exon11:c.G2119A:p.V707I	.	.	357	1159	6	0	0	6	0.00258176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.045	B	0.024	B	0.018	N	0.949	N	1.735	L	2.3	T	-1.047	T	0.028	T	0.096	1.800	11.98	1.42	0.079	0.869	9.031	0.025	.	0.0048	0.00319489	0.0051	0.0022	0.0049	0.0005	0.0082	0.0065	0.0055	0.0027	0.005084	786	154602	rs77148561	0.0057	0.0057	0.0058	0.0055	0.0062	0.0056	0.0055	0.0061	0.0060	0.0011	0.0047	0.0048	0.0002	0.0079	0.0050	0.0062	0.0053	0.0027	0.0044	0.0044	0.0044	0.0044	0.0059	0.0042	0.0040	0.0054	0.0053	0.0017	0	0.0054	0.0046	0.0006	0.0071	0.0068	0.0059	0.0062	0.0025	0.231	0.21634	T	0.029	0.92824	D	0.035	0.21781	B	0.016	0.20255	B	0.017905	0.27608	N	0.323122	0.948603	0.26564	N	1.775	0.45938	L	2.3	0.16953	T	-0.68	0.19509	N	0.143	0.15187	-1.0469	0.15274	T	0.028	0.11926	T	10	0.0035732388	0.00065	T	.	.	.	0.025	0.05312	.	.	0.211220785272	0.20719	0.30114706106982814	0.30027	0.225663849935	0.25111	0.356133192778	0.18821	T	0.018897	0.15156	T	-0.6225	0.00106	T	-0.654631	0.08633	T	0.00200806080350275	0.00021	T	0.631037	0.24617	T	0.028853307	0.02288	0.05025076	0.07850	0.028853307	0.02288	0.05025076	0.07850	-6.79	0.52485	T	.	.	0.072	0.04889	B	.;.;.	.;.;.	0.755193	0.11248	7.878	0.95774742574627969	0.27786	0.43435	0.27097	N	AEFDGBHCI	0.147687	0.27141	N	-0.440742305872519	0.24054	1.296186	-0.390509254358444	0.25279	1.38921	0.999866183372748	0.44398	0.706298	0.61202	0	0.694456	0.67091	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	5.35	1.42	0.21524	1.319000	0.33260	0.029000	0.13704	0.672000	0.70159	0.053000	0.21524	0.000000	0.08366	0.963000	0.52385	0.2858:0.0:0.7142:0.0	9.031	0.35418	595	0.68488	Transmembrane protein family 132, middle domain;.;Transmembrane protein family 132, middle domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1080.98	38	chr11	60935951	.	G	A	1080.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=818;ExcessHet=0.0000;FS=4.208;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=-4.920e-01;SOR=0.361	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1341	20	0	1	0
chr11	61121788	61121788	G	A	exonic	CD5	.	nonsynonymous SNV	CD5:NM_001346456:exon6:c.G812A:p.R271Q	.	.	420	1097	5	0	0	5	0.00227376	.	.	2708526	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.63	T	0.004	B	0.001	B	0.117	N	1.000	N	1.01	L	1.37	T	-1.033	T	0.061	T	0.044	0.588	7.171	-9.12	-2.001	-1.479	14.859	0.045	0.00921725508762	0.0002	.	0.0002	0	8.667e-05	0	0.0003	0.0002	0.0011	0.0004	0.0001552	24	154602	rs143050269	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0001	0.0004	0.0004	8.975e-05	0.0001	0	2.528e-05	0.0006	0.0005	0.0001	0.0002	0.0005	0.0002	0.0002	0.0002	0.0003	0.0017	0.0002	0.0001	0.0008	0.0006	0	0	0.0003	0	0	0.0002	0	0.0003	0.0005	0.0017	0.378	0.11262	T	0.387	0.15650	T	0.004	0.12183	B	0.001	0.04355	B	0.116908	0.02690	N	1.789010	1	0.08975	N	0.5	0.13406	N	1.37	0.34253	T	-0.2	0.10136	N	0.216	0.24135	-1.0333	0.19395	T	0.061	0.25492	T	10	0.021372706	0.00510	T	0.009217	0.24225	T	0.045	0.12272	.	.	0.250039746154	0.24611	0.29625810972776784	0.29538	0.332585113786	0.35307	0.194379627705	0.00312	T	0.084317	0.37250	T	-0.652316	0.00070	T	-0.823064	0.01391	T	0.00933613784167353	0.00119	T	0.60384	0.22664	T	0.043425106	0.06765	0.050805233	0.08049	0.043425106	0.06765	0.050805233	0.08049	-2.615	0.06618	T	.	.	0.072	0.04238	B	.	.	-1.033327	0.00725	0.022	0.79583291658759681	0.12808	0.00383	0.01935	N	AEFDGBI	0.036066	0.04746	N	-1.83220546551965	0.00471	0.02027139	-1.94335007268373	0.00401	0.01772041	0.999999965499289	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.89	-9.12	0.00604	-1.180000	0.03197	-4.048000	0.02373	-0.733000	0.03713	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2012:0.0992:0.6996:0.0	14.859	0.70004	308	0.87611	SRCR domain|SRCR-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1115.98	34	chr11	61121788	.	G	A	1115.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.590e-01;DP=764;ExcessHet=0.0000;FS=7.191;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=-6.070e-01;SOR=0.267	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1285	20	0	1	0
chr11	61258794	61258794	C	T	exonic	VWCE	.	nonsynonymous SNV	VWCE:NM_152718:exon20:c.G2749A:p.G917R,	.	.	413	1085	22	2	0	26	0.0118397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.244	N	1.000	N	-0.9	N	3.95	T	-0.996	T	0.043	T	0.157	-1.110	0.134	-2.62	-0.673	-0.584	5.514	0.027	0.0213806881925	0.0023	0.000798722	0.0021	0.0007	0.0009	0	0.0014	0.0021	0.0051	0.0076	0.0018823	291	154602	rs142539738	0.0021	0.0020	0.0019	0.0022	0.0082	0.0020	0.0020	0.0077	0.0074	0.0003	0.0015	5.155e-05	2.637e-05	0.0010	0.0076	0.0019	0.0020	0.0082	0.0017	0.0017	0.0015	0.0020	0.0075	0.0015	0.0015	0.0056	0.0049	0.0005	0	0.0039	0	0	0.0010	0	0.0019	0.0024	0.0075	1.0	0.00964	T	0.81	0.03945	T	0.0	0.02946	B	0.0	0.01387	B	0.244416	0.15642	N	0.529823	1	0.08975	N	-1.04	0.01097	N	0.11	0.61208	T	0.15	0.07736	N	0.062	0.06190	-0.9956	0.31136	T	0.043	0.18326	T	10	0.0057477653	0.00128	T	0.021381	0.44139	T	0.027	0.05988	0.185	0.09388	0.0138822411134	0.00435	0.10397906329037991	0.10327	0.242934635108	0.26798	0.276284873486	0.06980	T	0.007926	0.11716	T	-0.543212	0.00320	T	-0.548076	0.17511	T	0.000437647545597456	0.00003	T	0.528347	0.21082	T	0.03351433	0.03585	0.044080954	0.05631	0.028741755	0.02257	0.032279015	0.01938	-4.528	0.31253	T	.	.	0.087	0.11220	B	.;.;.	.;.;.	-0.737363	0.01236	0.063	0.27469530425493982	0.01365	0.00244	0.01352	N	AEFDBI	0.024243	0.01470	N	-1.87386442473662	0.00388	0.01669312	-1.82512283341602	0.00682	0.03034974	0.207515988317215	0.18199	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	4.81	-2.62	0.05793	-0.304000	0.08238	-0.777000	0.07471	-1.675000	0.00794	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1691:0.2695:0.5614	5.514	0.16188	546	0.72524	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	837.98	33	chr11	61258794	.	C	T	837.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.231;DP=775;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=-1.334e+00;SOR=0.631	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1358	20	0	1	0
chr11	61259093	61259093	G	A	exonic	VWCE	.	nonsynonymous SNV	VWCE:NM_152718:exon20:c.C2450T:p.P817L,	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.019	B	0.002	B	0.150	N	1.000	N	1.7	L	3.27	T	-0.904	T	0.226	T	0.139	1.285	10.20	2.48	0.384	-0.741	6.773	0.014	.	.	0.00419329	0.0038	0.0002	8.663e-05	0	0	6.02e-05	0.0090	0.0269	0.0032276	499	154602	rs199774187	0.0017	0.0017	0.0009	0.0025	0.0261	0.0016	0.0016	0.0252	0.0248	0.0002	8.944e-05	0	0	1.872e-05	0.0010	5.216e-05	0.0020	0.0261	0.0008	0.0008	0.0004	0.0012	0.0233	0.0007	0.0006	0.0198	0.0185	0.0002	0	0	0	0	0	0.0034	1.47e-05	0	0.0233	0.062	0.36912	T	0.108	0.39645	T	0.019	0.17989	B	0.002	0.06944	B	0.150235	0.17992	N	0.409242	1	0.08975	N	1.055	0.26876	L	-0.57	0.71307	T	-1.59	0.46337	N	0.06	0.05037	-0.9041	0.47550	T	0.226	0.59083	T	10	0.0034775436	0.00062	T	.	.	.	0.014	0.01968	.	.	0.0611884634855	0.05136	0.2673556967037624	0.26648	0.207961850794	0.23260	0.268343091011	0.05925	T	0.014221	0.19032	T	-0.527152	0.00399	T	-0.509722	0.21343	T	0.0132216412871336	0.00235	T	0.463654	0.15494	T	0.03173548	0.03068	0.039300587	0.03991	0.023720885	0.01136	0.03907875	0.03920	-4.521	0.31162	T	.	.	0.084	0.09723	B	.;.;.	.;.;.	0.110370	0.05098	1.633	0.58570857526824205	0.06023	0.02995	0.07855	N	AEFDBI	0.053315	0.09597	N	-1.00735335399968	0.08451	0.396264	-1.05196771491435	0.08666	0.4272234	0.240926205521004	0.18570	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	4.42	2.48	0.29194	-0.868000	0.04345	-0.886000	0.07046	-0.826000	0.02916	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1019:0.1956:0.7025:0.0	6.773	0.22789	549	0.72275	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1916.11	33	chr11	61259093	.	G	A	1916.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.78;DP=858;ExcessHet=0.1072;FS=1.958;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=-9.800e-02;SOR=0.752	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1358	19	0	2	0
chr11	61309066	61309066	T	A	exonic	DDB1	.	nonsynonymous SNV	DDB1:NM_001923:exon21:c.A2578T:p.T860S,	.	.	9	1512	1	0	0	1	0.000330579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.04	B	0.021	B	0.000	D	1.000	D	1.04	L	1.63	T	-1.044	T	0.092	T	0.288	3.516	17.96	5.08	1.903	7.948	14.858	0.115	0.00592325226897	.	.	5.766e-05	0	0	0	0	8.991e-05	0	6.056e-05	4.53e-05	7	154602	rs757118401	3.42e-05	3.42e-05	2.722e-05	4.125e-05	0.0005	2.631e-05	2.375e-05	0.0001	7.541e-05	0	0	0.0009	0	0	0.0005	7.194e-06	9.935e-05	0.0001	1.315e-05	1.313e-05	1.285e-05	1.346e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0.0003	0	0	0	0	0	0.0002	0.088	0.32296	T	0.335	0.18286	T	0.009	0.15093	B	0.021	0.19346	B	0.000001	0.84330	D	0.054132	0.999996	0.58761	D	1.04	0.26193	L	0.99	0.41750	T	-0.81	0.22294	N	0.239	0.26957	-1.0444	0.16000	T	0.092	0.35065	T	10	0.16721243	0.31202	T	0.005923	0.15430	T	0.115	0.32236	0.349	0.34598	0.540943628029	0.53747	0.14698347004895024	0.14620	0.807762257892	0.66579	0.718014657497	0.69756	T	0.155309	0.49698	T	-0.247489	0.14408	T	-0.41175	0.32023	T	0.0800882767729525	0.09999	T	0.785321	0.42297	T	0.27876237	0.50928	0.22085795	0.46876	0.27876237	0.50928	0.22085795	0.46875	-4.712	0.33549	T	.	.	0.077	0.06571	B	.	.	3.427809	0.47621	22.5	0.98942331285291607	0.48959	0.99169	0.92246	D	AEFBI	0.945135	0.95308	D	0.0444062864209249	0.43886	2.672853	0.225751867987339	0.51280	3.311988	0.999999997031547	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	7.927000	0.87017	7.927000	0.74823	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.858	0.69990	732	0.54084	Cleavage/polyadenylation specificity factor, A subunit, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2281.98	36	chr11	61309066	.	T	A	2281.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.321;DP=885;ExcessHet=0.0000;FS=1.207;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.34;ReadPosRankSum=0.028;SOR=0.831	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1261	20	0	1	0
chr11	61339326	61339326	G	A	exonic	TKFC	.	nonsynonymous SNV	TKFC:NM_001351977:exon5:c.G377A:p.R126Q	.	.	433	1087	2	0	0	2	0.000919118	.	.	3346050	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.05	B	0.109	B	0.001	N	1.000	N	1.72	L	1.48	T	-1.050	T	0.062	T	0.079	3.339	17.24	-0.792	-0.457	1.860	6.221	0.058	0.0117516700259	.	.	8.356e-06	0	0	0	0	1.528e-05	0	0	6.5e-06	1	154602	rs750037556	3.147e-05	3.147e-05	2.451e-05	3.851e-05	0.0005	2.413e-05	2.158e-05	0.0001	7.541e-05	0	4.472e-05	0	0	0	0.0005	3.417e-05	1.656e-05	2.319e-05	2.628e-05	2.626e-05	5.138e-05	0	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.171	0.25664	T	0.06	0.47581	T	0.031	0.20130	B	0.109	0.31370	B	0.001042	0.40475	N	0.250144	0.595796	0.30982	N	.	.	.	1.48	0.31731	T	-2.34	0.59226	N	0.178	0.19190	-1.0501	0.14369	T	0.062	0.25851	T	10	0.17458877	0.32346	T	0.011752	0.29684	T	0.058	0.16647	.	.	0.159798565429	0.15598	0.49981964076163404	0.49902	0.265355236871	0.29086	0.217150896788	0.01152	T	0.143327	0.47939	T	-0.402938	0.02215	T	-0.636273	0.09943	T	0.136922477290511	0.16007	T	0.720728	0.66592	T	0.07955872	0.18183	0.1133717	0.27361	0.07955872	0.18183	0.1133717	0.27361	-6.492	0.50224	T	.	.	0.079	0.08802	B	.;.;.	.;.;.	1.513318	0.19439	14.26	0.9942177579028415	0.63790	0.90001	0.50845	D	AEFDBI	0.441703	0.49973	N	-0.518623092572485	0.21477	1.140118	-0.442504162170972	0.23762	1.297549	0.998852967327419	0.37823	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.25	-0.792	0.10374	1.924000	0.39695	-0.093000	0.12034	-0.739000	0.03678	1.000000	0.71638	0.001000	0.17328	0.582000	0.30943	0.3734:0.0:0.5147:0.1119	6.221	0.19895	728	0.54609	DhaK domain|DhaK domain;DhaK domain|DhaK domain;DhaK domain|DhaK domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1758.98	35	chr11	61339326	.	G	A	1758.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.08;DP=1044;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.53;ReadPosRankSum=-4.520e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	20	0	1	0
chr11	61368600	61368600	C	T	exonic	TMEM138	.	nonsynonymous SNV	TMEM138:NM_001330281:exon5:c.C206T:p.A69V	Joubert syndrome 16, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	40146	Joubert_syndrome_16	MONDO:MONDO:0013764,MedGen:C3280906,OMIM:614465,Orphanet:2318	criteria_provided,_single_submitter	Pathogenic	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.913	D	0.000	D	1.000	D	2.455	M	-2.61	D	0.767	D	0.810	D	0.883	5.394	34	5.45	2.563	6.930	18.876	0.735	0.21097730234	.	.	8.402e-06	0	0	0	0	1.522e-05	0	0	6.5e-06	1	154602	rs387907133	2.058e-06	2.736e-06	0	4.135e-06	0.0003	5.5e-07	1.5e-07	6.107e-05	2.527e-05	0	0	0	0	0	0.0003	0	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.013	0.65728	D	0.997	0.70673	D	0.913	0.64886	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.455	0.71248	M	-2.61	0.89953	D	-3.29	0.65742	D	0.861	0.89465	0.767	0.93998	D	0.810	0.93572	D	10	0.86135566	0.85357	D	0.210977	0.87281	D	0.735	0.90764	0.444	0.50139	0.958932107382	0.95849	0.7767177279181255	0.77621	1.1623903717	0.79532	0.597974300385	0.52618	T	0.818276	0.95529	D	0.408887	0.90418	D	0.349562	0.90298	D	0.953355431556702	0.64006	D	0.90141	0.65732	D	0.6055836	0.72990	0.39623687	0.64270	0.59362674	0.72348	0.4525798	0.68157	-2.871	0.08857	T	0.7759658241040763	0.85646	0.272	0.62582	B	.;.	.;.	4.122257	0.61622	24.4	0.99907271624964344	0.97726	0.98378	0.82168	D	AEFBCI	0.740619	0.68481	D	0.671105703255618	0.77741	6.733181	0.59981760592093	0.74926	6.221131	0.99999999999999	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.45	5.45	0.79688	7.079000	0.76510	7.179000	0.57745	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.141000	0.19983	0.0:1.0:0.0:0.0	18.876	0.92305	773	0.48803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	453.98	40	chr11	61368600	.	C	T	453.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.66;ReadPosRankSum=1.27;SOR=0.656	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1100	20	0	1	0
chr11	61429820	61429820	G	C	exonic	CPSF7	.	nonsynonymous SNV	CPSF7:NM_024811:exon1:c.C11G:p.P4R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.21	B	0.068	B	.	.	1.000	D	.	.	.	.	-0.894	T	0.140	T	0.098	2.582	14.60	2.49	0.975	-0.386	8.495	0.051	0.517106838397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.21	0.29968	B	0.068	0.27651	B	.	.	.	.	0.999998	0.58761	D	.	.	.	.	.	.	-0.02	0.07299	N	0.127	0.12055	-0.8941	0.48567	T	0.140	0.45847	T	7	0.14093202	0.26783	T	0.517107	0.95390	D	0.051	0.14325	0.22	0.14224	0.110392049598	0.10638	0.4174082070352745	0.41656	0.805347081922	0.66429	0.82470703125	0.85751	D	.	.	.	-0.0864779	0.38654	T	-0.361996	0.37820	T	0.496525049209595	0.32503	T	0.327667	0.06803	T	.	.	.	.	.	.	.	.	-2.145	0.03782	T	.	.	0.076	0.05845	B	.	.	1.235378	0.16305	12.45	0.98340308539117038	0.40438	0.00442	0.02154	N	ALL	0.048786	0.08360	N	-0.470683958180821	0.23045	1.234779	-0.479797326298758	0.22711	1.234909	0.999999998969833	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	3.44	2.49	0.29274	-0.323000	0.08039	0.024000	0.13633	0.472000	0.21952	0.000000	0.06391	0.000000	0.08366	0.952000	0.50033	0.0:0.2539:0.7461:0.0	8.495	0.32284	779	0.47767	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	630.98	36	chr11	61429820	.	G	C	630.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.047;DP=827;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.86;ReadPosRankSum=0.513;SOR=0.711	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr11	61482774	61482774	G	A	exonic	PPP1R32	.	nonsynonymous SNV	PPP1R32:NM_001170753:exon4:c.G347A:p.R116Q	.	.	418	1053	47	4	0	55	0.0254512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.454	P	0.071	B	0.018	N	1.000	D	1.95	M	1.3	T	-0.988	T	0.085	T	0.438	3.483	17.82	4.15	1.125	0.334	10.523	0.098	.	0.0052	0.00319489	0.0082	0.0028	0.0042	0	0.0043	0.0102	0.0119	0.0114	0.0073673	1139	154602	rs140046775	0.0074	0.0074	0.0071	0.0078	0.0127	0.0073	0.0073	0.0119	0.0116	0.0033	0.0043	0.0025	0	0.0046	0.0127	0.0078	0.0071	0.0125	0.0063	0.0063	0.0064	0.0062	0.0114	0.0060	0.0058	0.0090	0.0081	0.0033	0.0164	0.0046	0.0035	0.0002	0.0048	0.0238	0.0087	0.0090	0.0114	0.041	0.42487	D	0.072	0.43344	T	0.454	0.36182	P	0.071	0.27960	B	0.018228	0.27531	N	0.249758	0.790906	0.34385	D	2.035	0.55589	M	0.8	0.48769	T	-2.27	0.50666	N	0.24	0.27077	-0.9881	0.33077	T	0.085	0.33185	T	10	0.0055578053	0.00123	T	.	.	.	0.098	0.28162	.	.	0.400756358115	0.39691	0.2824901324341105	0.28162	0.173007313036	0.19485	0.270249664783	0.06173	T	0.014843	0.12562	T	-0.447336	0.01171	T	-0.404956	0.32807	T	0.0144965262439168	0.00295	T	0.70443	0.31478	T	0.050360326	0.09085	0.0727772	0.15741	0.050360326	0.09084	0.0727772	0.15740	-3.792	0.20685	T	.	.	0.078	0.06756	B	.;.	.;.	1.455047	0.18768	13.91	0.9974269381755424	0.83629	0.19156	0.20550	N	AEFDGBHCI	0.132172	0.25138	N	-0.362726907490392	0.26808	1.465919	-0.395163743188018	0.25140	1.380801	0.99999999999439	0.74766	0.533608	0.22052	0	0.61073	0.52368	0	0.298653	0.05632	1	0.691587	0.68394	0	.	.	5.06	4.15	0.47978	0.448000	0.21443	-0.747000	0.07594	0.586000	0.30580	0.103000	0.22855	0.000000	0.08366	0.141000	0.19983	0.0919:0.0:0.9081:0.0	10.523	0.44121	721	0.55360	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	692.98	33	chr11	61482774	.	G	A	692.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=774;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=0.296;SOR=0.783	GT:AD:DP:GQ:PL	0/1:31,28:59:99:707,0,738	20	0	1	0
chr11	61484728	61484728	A	G	exonic	PPP1R32	.	nonsynonymous SNV	PPP1R32:NM_001170753:exon5:c.A422G:p.Q141R	.	.	420	1083	19	0	0	19	0.00869565	.	.	712920	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.386	B	0.124	B	0.162	N	0.855	N	1.95	M	1.49	T	-0.980	T	0.073	T	0.143	2.208	13.34	5.33	2.028	1.745	7.983	0.062	.	0.0057	0.00499201	0.0074	0.0013	0.0035	0.0004	0.0054	0.0088	0.0064	0.0127	0.0068434	1058	154602	rs146231065	0.0079	0.0079	0.0078	0.0079	0.0102	0.0078	0.0077	0.0096	0.0094	0.0013	0.0034	0.0035	0.0001	0.0045	0.0099	0.0087	0.0072	0.0102	0.0057	0.0057	0.0063	0.0051	0.0093	0.0054	0.0053	0.0087	0.0085	0.0016	0	0.0043	0.0026	0.0004	0.0036	0.0068	0.0093	0.0066	0.0083	0.532	0.06980	T	0.214	0.27414	T	0.386	0.34500	B	0.124	0.32546	B	0.162044	0.17633	N	0.548000	0.999996	0.08975	N	2.52	0.73523	M	0.9	0.45248	T	-1.39	0.34397	N	0.309	0.38848	-0.9796	0.35094	T	0.073	0.29707	T	9	0.0050240457	0.00108	T	.	.	.	0.062	0.17934	.	.	0.44318313171	0.43938	0.37915771285481725	0.37830	0.136013082225	0.15338	0.337984144688	0.16136	T	0.021627	0.16810	T	-0.547716	0.00301	T	-0.545252	0.17784	T	0.0224581996817643	0.00961	T	0.553645	0.19140	T	0.10898179	0.25765	0.08190894	0.18652	0.10898179	0.25765	0.08190894	0.18652	-3.265	0.14010	T	.	.	0.082	0.08705	B	.;.	.;.	1.827259	0.23215	15.93	0.9881692540833007	0.46720	0.10955	0.16308	N	AEFDBHCI	0.062962	0.12137	N	-0.201305311371067	0.33080	1.872806	-0.167050394461141	0.32757	1.866839	0.999595031790758	0.40745	0.638212	0.43195	0	0.670034	0.63936	0	0.596874	0.31795	0	0.59522	0.37078	0	.	.	5.33	5.33	0.75683	1.751000	0.37967	3.990000	0.40980	0.756000	0.94297	0.122000	0.23210	0.993000	0.31925	0.911000	0.44643	0.9082:0.0:0.0918:0.0	7.983	0.29357	715	0.56137	.;.	.	.	.	.	rs146231065	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1083.98	37	chr11	61484728	.	A	G	1083.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.800e-02;DP=805;ExcessHet=0.0000;FS=2.449;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.04;ReadPosRankSum=-1.793e+00;SOR=0.805	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1212	20	0	1	0
chr11	61485822	61485822	G	A	exonic	PPP1R32	.	nonsynonymous SNV	PPP1R32:NM_001170753:exon7:c.G598A:p.G200S	.	.	428	1047	45	2	0	49	0.0228651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.003	N	0.987	D	2.455	M	-1.09	T	0.156	D	0.618	D	0.515	2.342	13.79	2.89	0.430	3.650	8.123	0.354	.	0.0009	0.00379393	0.0030	0.0003	0.0004	0	0	0.0015	0.0067	0.0152	0.0027619	427	154602	rs148713373	0.0020	0.0020	0.0015	0.0024	0.0135	0.0019	0.0019	0.0128	0.0126	0.0001	0.0004	3.827e-05	5.038e-05	0.0003	0.0069	0.0013	0.0022	0.0135	0.0014	0.0014	0.0013	0.0015	0.0147	0.0013	0.0012	0.0120	0.0109	0.0003	0	0.0005	0	0	0	0.0136	0.0017	0.0009	0.0147	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.002855	0.35836	N	0.186440	0.978287	0.25258	N	2.595	0.75868	M	-1.47	0.81067	T	-5.48	0.87911	D	0.703	0.70702	0.156	0.85156	D	0.618	0.86522	D	10	0.013056129	0.00278	T	.	.	.	0.354	0.67510	.	.	0.810444014665	0.80866	0.6798814247831744	0.67927	0.545662942525	0.51589	0.390948414803	0.23803	T	0.104356	0.41385	T	-0.23495	0.15999	T	-0.0985893	0.63507	T	0.111709246670083	0.13599	T	0.715028	0.32735	T	0.46056592	0.64706	0.2949798	0.55529	0.46056592	0.64706	0.2949798	0.55528	-5.413	0.42185	T	.	.	0.252	0.48675	B	.;.	.;.	3.542621	0.49765	22.8	0.99553873550035676	0.71335	0.68348	0.33768	D	AEFDBI	0.246586	0.36732	N	0.172046429641322	0.49859	3.181819	-0.0262660328570878	0.38532	2.271525	0.936981157563197	0.27277	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.77	2.89	0.32713	3.710000	0.54589	6.635000	0.56164	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.087000	0.17632	0.1922:0.0:0.8078:0.0	8.123	0.30142	716	0.55970	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	629.98	36	chr11	61485822	.	G	A	629.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.492;DP=770;ExcessHet=0.0000;FS=3.582;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=0.00;SOR=0.639	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1102	20	0	1	0
chr11	61490515	61490515	C	G	exonic	PPP1R32	.	nonsynonymous SNV	PPP1R32:NM_001170753:exon12:c.C1163G:p.A388G	.	.	421	1082	18	1	0	20	0.00915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.187	B	0.106	B	0.178	N	1.000	N	1.61	L	1.48	T	-0.950	T	0.076	T	0.145	2.584	14.60	-9.41	-1.806	-1.784	7.585	0.048	0.0103333401294	0.0012	0.00159744	0.0018	0.0002	0.0006	0	0.0012	0.0024	0.0055	0.0018	0.0017594	272	154602	rs117869943	0.0017	0.0017	0.0016	0.0018	0.0107	0.0016	0.0016	0.0086	0.0078	0.0001	0.0009	0.0065	2.519e-05	0.0009	0.0107	0.0017	0.0026	0.0016	0.0015	0.0015	0.0016	0.0014	0.0022	0.0014	0.0013	0.0019	0.0018	0.0002	0.0044	0.0009	0.0058	0.0002	0.0010	0.0204	0.0022	0.0033	0.0021	0.005	0.72154	D	0.016	0.60972	D	0.187	0.29285	B	0.08	0.31143	B	0.178328	0.03163	N	1.775110	1	0.08975	N	1.39	0.34934	L	0.91	0.48142	T	-2.0	0.62151	N	0.207	0.23380	-0.9504	0.40903	T	0.076	0.30460	T	10	0.0077874362	0.00177	T	0.010333	0.26741	T	0.048	0.13305	.	.	0.0716867268079	0.06686	0.14833292125807873	0.14755	0.140961929662	0.15898	0.210121005774	0.00817	T	0.004523	0.21924	T	-0.56008	0.00253	T	-0.582841	0.14292	T	0.0139031311812272	0.00265	T	0.665033	0.27914	T	0.11320703	0.26739	0.06446576	0.12923	0.11320703	0.26738	0.06446576	0.12923	-3.374	0.14922	T	.	.	0.120	0.26978	B	.;.;.;.;.;.	.;.;.;.;.;.	0.523970	0.08927	5.708	0.90326142009616972	0.19592	0.08499	0.14420	N	AEFDBCIJ	0.070984	0.14111	N	-1.32248648030342	0.03419	0.1526891	-1.4886658049195	0.02436	0.1120706	0.99999999986544	0.74766	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.7	-9.41	0.00518	-2.102000	0.01430	-1.231000	0.05960	-0.834000	0.02848	0.000000	0.06391	0.000000	0.08366	0.128000	0.19490	0.2093:0.143:0.0:0.6478	7.585	0.27154	708	0.56926	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2218.98	34	chr11	61490515	.	C	G	2218.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.822e+00;DP=901;ExcessHet=0.0000;FS=2.446;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=-8.450e-01;SOR=0.885	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr11	61509753	61509753	-	T	exonic	LRRC10B	.	frameshift insertion	LRRC10B:NM_001145077:exon1:c.755_756insT:p.A253Sfs*5,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1365607032	1.459e-06	1.368e-06	0	2.957e-06	1.863e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.863e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	891.94	35	chr11	61509753	.	C	CT	891.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=829;ExcessHet=0.0000;FS=2.236;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.12;ReadPosRankSum=0.617;SOR=1.136	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1176	20	0	1	0
chr11	61533053	61533053	C	T	exonic	SYT7	.	nonsynonymous SNV	SYT7:NM_001370210:exon2:c.G575A:p.R192H	.	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.059	B	0.008	B	0.007	N	1.000	D	0.895	L	1.8	T	-1.069	T	0.092	T	0.305	2.981	15.94	3.56	1.015	3.192	8.798	0.056	.	0.0002	0.00798722	0.0068	0	0.0009	0.0001	0	9.098e-05	0.0034	0.0488	0.0056662	876	154602	rs199660597	0.0027	0.0027	0.0016	0.0039	0.0434	0.0026	0.0026	0.0423	0.0418	0.0001	0.0002	0	2.519e-05	0	0.0016	3.867e-05	0.0025	0.0434	0.0014	0.0014	0.0006	0.0023	0.0431	0.0013	0.0012	0.0383	0.0365	4.81e-05	0	0.0001	0	0.0002	0	0	4.41e-05	0	0.0431	0.133	0.55530	T	0.369	0.47828	T	0.006	0.13644	B	0.002	0.06944	B	0.006903	0.31720	N	0.343522	0.999999	0.81001	D	1.245	0.31408	L	0.43	0.57729	T	-1.13	0.33998	N	0.369	0.44090	-1.0692	0.09590	T	0.092	0.35010	T	10	0.0030896664	0.00051	T	.	.	.	0.056	0.15993	.	.	0.701279832967	0.69869	0.3653199990426377	0.36445	0.994701438543	0.74181	0.483835786581	0.36585	T	0.16229	0.50688	T	-0.425163	0.01587	T	-0.350637	0.39131	T	0.0426441641605728	0.04172	T	0.860114	0.55285	D	0.04556285	0.07478	0.038671173	0.03786	0.04556285	0.07478	0.038671173	0.03785	-4.132	0.31894	T	.	.	0.091	0.14660	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.546919	0.71521	25.7	0.99690526190213291	0.79909	0.96966	0.71921	D	AEFBI	0.610406	0.59924	D	-0.500330354956282	0.22069	1.175877	-0.331477828408814	0.27088	1.500683	0.999964957930018	0.48965	0.695654	0.57023	0	0.563428	0.19063	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.47	3.56	0.39892	3.247000	0.51123	2.730000	0.34381	-0.173000	0.11020	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0:0.8238:0.0:0.1762	8.798	0.34051	735	0.53711	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1205.98	42	chr11	61533053	.	C	T	1205.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.101;DP=816;ExcessHet=0.0000;FS=0.723;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=-4.750e-01;SOR=0.779	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1280	20	0	1	0
chr11	61740527	61740527	G	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.G1918C:p.V640L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.984	D	0.956	D	0.000	D	1.000	D	1.895	L	1.75	T	-0.929	T	0.147	T	0.816	4.674	25.8	4.41	2.173	9.720	17.371	0.359	0.0303838687175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.084	0.41239	T	0.984	0.60733	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	1.75	0.26152	T	-1.66	0.39692	N	0.801	0.79696	-0.9294	0.44227	T	0.147	0.47183	T	10	0.85639554	0.84838	D	0.030384	0.52709	D	0.359	0.67962	0.717	0.85230	0.332276917938	0.32835	0.6045569509805981	0.60386	1.38609513779	0.84885	0.863340735435	0.91603	D	0.126602	0.45309	T	0.100887	0.64389	D	-0.0928586	0.63945	T	0.953071773052216	0.63941	D	0.949005	0.80370	D	0.34753636	0.56875	0.27692467	0.53642	0.34753636	0.56876	0.27692467	0.53641	-9.454	0.70572	D	.	.	0.932	0.85229	P	.	.	5.079334	0.84758	28.4	0.99721849654714378	0.82125	0.99768	0.99325	D	AEFBI	0.892349	0.82920	D	0.710803035018918	0.80340	7.272851	0.681479095580318	0.80974	7.419648	0.999999999989603	0.74766	0.651	0.46895	0	0.547309	0.14657	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	9.852000	0.98385	11.590000	0.93399	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.371	0.87267	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4	7460.77	117	chr11	61740527	.	G	C	7460.77	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-2.620e+00;DP=2290;ExcessHet=20.9642;FS=238.697;InbreedingCoeff=-0.6474;MLEAC=16;MLEAF=0.400;MQ=60.00;MQRankSum=0.00;QD=4.46;ReadPosRankSum=0.887;SOR=12.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,46:125:99:0|1:61740527_G_C:894,0,2116:61740527	4	0	16	1
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.948	P	0.588	P	0.000	D	1.000	D	1.5	L	1.82	T	-1.071	T	0.080	T	0.919	3.976	20.4	4.41	1.764	6.186	13.945	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	11271.74	121	chr11	61740531	.	T	C	11271.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.350e+00;DP=2360;ExcessHet=54.0936;FS=275.616;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=4.98;ReadPosRankSum=0.649;SOR=13.232	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,46:123:99:0|1:61740527_G_C:900,0,2088:61740527	0	0	21	0
chr11	61740534	61740534	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1925C:p.I642T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.981	D	0.966	D	0.000	D	1.000	D	2.14	M	1.62	T	-0.753	T	0.179	T	0.931	3.211	16.76	4.41	1.764	7.925	13.945	0.630	0.0533207713132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.981	0.59675	D	0.966	0.71341	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.54	0.74080	M	1.62	0.28189	T	-3.44	0.67477	D	0.962	0.97207	-0.7533	0.57763	T	0.179	0.52536	T	10	0.8921055	0.88555	D	0.053321	0.65423	D	0.630	0.85769	0.681	0.81885	0.304565745084	0.30068	0.7744194937475786	0.77391	0.666986608579	0.59222	0.869130373001	0.92444	D	0.75206	0.93213	D	0.265718	0.80056	D	0.143909	0.79798	D	0.9852654337883	0.76310	D	0.940673	0.77758	D	0.6597242	0.75884	0.5518828	0.74088	0.6597242	0.75885	0.5518828	0.74088	-12.743	0.88276	D	.	.	0.996	0.95780	P	.	.	4.310021	0.65883	24.9	0.99513605803015515	0.68799	0.99537	0.97199	D	AEFBI	0.889702	0.82402	D	0.670673455613988	0.77712	6.727655	0.622032396737468	0.76541	6.510446	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	7.903000	0.86133	7.733000	0.67792	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	518.13	45	chr11	61740534	.	T	C	518.13	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.553e+00;DP=1567;ExcessHet=0.1072;FS=202.737;InbreedingCoeff=-0.0510;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=2.58;ReadPosRankSum=0.399;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:99,23:122:14:.:.:0,14,2142	19	0	2	0
chr11	61743591	61743591	C	T	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon20:c.C2231T:p.P744L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.991	D	0.766	P	0.000	D	1.000	D	0.55	N	1.23	T	-1.002	T	0.097	T	0.493	2.870	15.56	3.1	2.057	4.444	15.457	0.153	0.0258473987523	.	.	9.569e-06	0	0	0	0	1.68e-05	0	0	6.5e-06	1	154602	rs763369500	7.055e-07	3.42e-06	0	1.424e-06	3.103e-05	0	0	.	.	3.103e-05	0	0	0	0	0	0	0	0	6.569e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.137	0.33894	T	0.991	0.64070	D	0.766	0.56676	P	0.000027	0.55875	D	0.000000	1	0.81001	D	0.55	0.14455	N	1.23	0.36872	T	-1.72	0.40850	N	0.061	0.03283	-1.0020	0.29342	T	0.097	0.36445	T	10	0.25546202	0.42938	T	0.025847	0.48797	D	0.153	0.40148	0.363	0.36874	0.123314135267	0.11883	0.419016608776451	0.41817	0.512778458504	0.49301	0.695604920387	0.66510	T	0.148701	0.48738	T	-0.0729513	0.40856	T	-0.342566	0.40054	T	0.458090901374817	0.31096	T	0.646635	0.25786	T	0.18745002	0.40199	0.24368685	0.49817	0.18745002	0.40199	0.24368685	0.49816	-6.458	0.49961	T	.	.	0.157	0.34624	B	.	.	3.679661	0.52371	23.2	0.99829535434482164	0.91112	0.97325	0.74040	D	AEFBI	0.525664	0.54834	D	0.0372872581755055	0.43559	2.646425	-0.0556121934834188	0.37249	2.178366	0.999999999194321	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.603688	0.36954	0	0.567892	0.33627	0	.	.	3.1	3.1	0.34780	4.486000	0.60015	7.417000	0.58687	0.464000	0.21668	0.985000	0.35982	1.000000	0.68203	0.040000	0.14268	0.0:1.0:0.0:0.0	15.457	0.75046	754	0.51307	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	990.98	41	chr11	61743591	.	C	T	990.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.310e-01;DP=950;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.04;ReadPosRankSum=-4.940e-01;SOR=0.598	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1372	20	0	1	0
chr11	61770306	61770306	G	A	exonic	MYRF	.	nonsynonymous SNV	MYRF:NM_001127392:exon5:c.G521A:p.R174H	.	.	.	.	.	.	.	.	.	.	.	3218712	MYRF-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.994	D	0.000	D	1.000	D	0.695	N	1.15	T	-0.849	T	0.161	T	0.443	4.482	24.0	3.89	2.469	.	17.191	0.201	0.0695971239615	0.0004	.	0.0010	0.0002	0.0001	0	0.0014	0.0017	0	0	0.0006727	104	154602	rs200370195	0.0008	0.0008	0.0008	0.0008	0.0010	0.0008	0.0008	0.0009	0.0009	0.0001	0.0002	0.0005	0	0.0011	0	0.0010	0.0006	1.18e-05	0.0005	0.0005	0.0006	0.0005	0.0010	0.0004	0.0004	0.0008	0.0007	9.68e-05	0	0	0.0006	0	0.0009	0	0.0010	0	0	0.013	0.53900	D	0.059	0.45961	T	1.0	0.90584	D	0.959	0.82059	D	0.000002	0.62929	D	0.000000	0.933219	0.37047	D	.	.	.	1.13	0.38556	T	-1.34	0.35792	N	0.527	0.63289	-0.8491	0.52031	T	0.161	0.49548	T	10	0.08777475	0.15051	T	0.069597	0.70774	D	0.201	0.48592	.	.	0.215239754934	0.21150	0.17856035567607476	0.17775	0.574821426767	0.53496	0.854691147804	0.90321	D	0.035583	0.23773	T	-0.358534	0.04213	T	-0.338227	0.40546	T	0.11440297216177	0.13874	T	0.788521	0.42806	T	0.14702924	0.33630	0.15438253	0.36236	0.16133516	0.36135	0.17816664	0.40466	-6.554	0.50701	T	0.17389433535474502	0.22054	0.118	0.30945	B	.;.	.;.	4.855502	0.79407	27.1	0.99948432714591418	0.99923	0.91100	0.52860	D	AEFDBCI	0.767978	0.70368	D	0.467012969097725	0.65175	4.789544	0.461271375748431	0.65446	4.824588	0.999999999316003	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	3.89	3.89	0.44098	4.823000	0.62385	7.954000	0.75900	0.578000	0.29377	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.191	0.86760	784	0.47045	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	219.98	23	chr11	61770306	.	G	A	219.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=634;ExcessHet=0.0000;FS=1.414;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.67;ReadPosRankSum=-5.490e-01;SOR=0.982	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1010	20	0	1	0
chr11	61898324	61898324	T	C	exonic	RAB3IL1	.	nonsynonymous SNV	RAB3IL1:NM_001271686:exon9:c.A1025G:p.K342R	.	.	424	1078	20	0	0	20	0.00919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.039	B	0.047	B	0.000	N	0.948	D	0.61	N	1.48	T	-1.080	T	0.045	T	0.137	2.993	15.98	3.56	0.657	3.283	7.123	0.041	0.0039208026233	.	0.00139776	0.0013	0	0.0003	0	0	0.0004	0.0022	0.0075	0.0010737	166	154602	rs150700132	0.0006	0.0006	0.0004	0.0008	0.0069	0.0006	0.0005	0.0064	0.0062	8.961e-05	0.0004	0.0020	0	0	0.0029	0.0001	0.0008	0.0069	0.0003	0.0003	0.0002	0.0004	0.0044	0.0002	0.0002	0.0029	0.0025	2.405e-05	0	0.0007	0.0014	0.0004	0	0.0034	0.0001	0	0.0044	0.158	0.91255	T	0.392	0.92824	T	0.005	0.21116	B	0.003	0.24832	B	0.000043	0.53742	N	0.121890	0.947939	0.37589	D	0.525	0.13617	N	1.45	0.32482	T	-1.5	0.36586	N	0.073	0.06190	-1.0799	0.07368	T	0.045	0.19234	T	10	0.009456545	0.00213	T	0.003921	0.09242	T	0.041	0.10877	0.379	0.39482	0.462287137294	0.45856	0.4396331280742285	0.43880	0.0747485147847	0.08389	0.607589244843	0.53975	T	0.041027	0.25721	T	-0.512453	0.00486	T	-0.505294	0.21799	T	0.0271312275529768	0.01563	T	0.832417	0.51943	T	0.07920888	0.18082	0.09345982	0.22075	0.07920888	0.18081	0.09345982	0.22075	-5.542	0.45495	T	.	.	0.070	0.29311	B	.;.;.	.;.;.	2.405263	0.30907	18.58	0.99606939266614536	0.74575	0.58657	0.30701	D	AEFDGBCI	0.234360	0.35713	N	-0.330949200297805	0.27978	1.53943	-0.171939391558643	0.32573	1.854573	0.999999028030449	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.699908	0.69081	0	.	.	4.71	3.56	0.39892	3.352000	0.51954	4.250000	0.42753	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.835000	0.39381	0.0:0.2622:0.0:0.7378	7.123	0.24630	711	0.56613	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1241.98	36	chr11	61898324	.	T	C	1241.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.405e+00;DP=824;ExcessHet=0.0000;FS=5.128;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=-1.100e+00;SOR=0.351	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1264	20	0	1	0
chr11	62130014	62130014	T	C	exonic	INCENP	.	nonsynonymous SNV	INCENP:NM_001040694:exon4:c.T487C:p.C163R	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.936	P	0.206	B	0.588	U	1.000	N	1.1	L	2.58	T	-0.985	T	0.028	T	0.271	1.056	9.314	-6.25	-0.962	-3.110	2.873	0.055	.	.	0.00299521	0.0020	0	8.649e-05	0.0001	0	0	0.0011	0.0145	0.0016947	262	154602	rs200221164	0.0009	0.0009	0.0004	0.0013	0.0140	0.0008	0.0008	0.0134	0.0131	2.987e-05	0	0	2.519e-05	0	0.0002	1.799e-06	0.0006	0.0140	0.0004	0.0004	0.0002	0.0006	0.0130	0.0003	0.0003	0.0105	0.0095	0	0	0	0	0	0	0	0	0	0.0130	0.071	0.51248	T	0.435	0.38596	T	0.396	0.37720	B	0.064	0.33270	B	0.588279	0.05576	U	1.350040	1	0.08975	N	1.245	0.31408	L	2.57	0.26152	T	-1.16	0.29727	N	0.264	0.29889	-0.9850	0.33832	T	0.028	0.12147	T	10	0.0036293864	0.00066	T	.	.	.	0.055	0.15663	0.274	0.22528	0.187035705434	0.18338	0.12425565837346511	0.12351	0.462583942466	0.45788	0.355944156647	0.18793	T	0.059539	0.31144	T	-0.559824	0.00254	T	-0.565249	0.15888	T	0.0371548628444139	0.03182	T	0.533947	0.17813	T	0.11795781	0.27799	0.116286516	0.28073	0.14599451	0.33442	0.127532	0.30697	-2.795	0.08138	T	.	.	0.081	0.17189	B	.;.;.	.;.;.	-0.601094	0.01569	0.104	0.34240950733724657	0.02084	0.02204	0.06429	N	AEFDBI	0.055730	0.10245	N	-1.28788096900127	0.03820	0.1713512	-1.4413812656002	0.02849	0.1318243	0.999992727030635	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.13	-6.25	0.01863	-2.354000	0.01169	.	.	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.416000	0.27139	0.1488:0.1113:0.4941:0.2458	2.873	0.05276	741	0.52966	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2259.98	33	chr11	62130014	.	T	C	2259.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.207e+00;DP=1077;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.96;ReadPosRankSum=-3.260e-01;SOR=0.713	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr11	62518174	62518174	T	C	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.A16243G:p.T5415A	.	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.019	B	0.808	N	1.000	N	-0.37	N	5.6	T	-0.917	T	0.001	T	0.121	-2.981	0.001	-8.1	-1.439	-1.776	5.234	0.043	0.00613340138201	0.0004	0.000599042	0.0003	0	0.0006	0	0	0.0004	0	0	0.0003234	50	154602	rs11231126	0.0005	0.0005	0.0004	0.0005	0.0014	0.0004	0.0004	0.0007	0.0005	0.0001	0.0007	0.0007	0	0	0.0014	0.0005	0.0004	4.637e-05	0.0005	0.0005	0.0005	0.0005	0.0008	0.0004	0.0004	0.0007	0.0006	9.658e-05	0	0.0007	0	0	0	0.0034	0.0008	0.0005	0	1.0	0.00964	T	0.72	0.05345	T	0.004	0.12183	B	0.019	0.18783	B	0.808425	0.06812	N	1.142370	1	0.08975	N	0.03	0.08032	N	5.6	0.00825	T	-1.21	0.30762	N	0.064	0.03613	-0.9167	0.45997	T	0.001	0.00318	T	10	0.0036427677	0.00067	T	0.006133	0.16052	T	0.043	0.11576	.	.	0.0482279557977	0.04254	0.10253187904966532	0.10183	0.0252877464739	0.02574	0.202656537294	0.00538	T	0.060196	0.31322	T	-0.609884	0.00127	T	-0.724246	0.04594	T	0.0145291981044209	0.00297	T	0.412859	0.10744	T	0.033250626	0.03505	0.031455915	0.01737	0.033250626	0.03505	0.031455915	0.01736	-1.929	0.02924	T	.	.	0.070	0.03661	B	.	.	-0.267617	0.02762	0.372	0.10202735489824774	0.00123	0.01069	0.03960	N	AEFBI	.	.	.	-2.10865655884178	0.00123	0.005244964	-2.13797415557105	0.00154	0.006768702	0.999999971553687	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	4.69	-8.1	0.00957	-0.483000	0.06616	.	.	-0.188000	0.09543	0.000000	0.06391	0.000000	0.08366	0.063000	0.16184	0.096:0.4112:0.0891:0.4037	5.234	0.14755	217	0.91564	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1750.98	46	chr11	62518174	.	T	C	1750.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.49;DP=1066;ExcessHet=0.0000;FS=1.943;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.30;ReadPosRankSum=-1.980e-01;SOR=0.602	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1104	20	0	1	0
chr11	62519982	62519982	G	A	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.C14435T:p.S4812L	.	.	435	1086	1	0	0	1	0.000460193	.	.	2210979	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	0.998	D	0.96	D	0.036	N	1.000	D	2.94	M	4.63	T	-1.056	T	0.031	T	0.364	1.892	12.28	4.97	2.310	0.923	17.863	0.156	0.0223627090462	0.0004	.	0.0004	0.0002	0.0002	0.0001	0.0002	0.0006	0	0.0001	0.0002975	46	154602	rs201426270	0.0003	0.0003	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0001	0.0002	0.0002	0	0.0001	0	0.0003	0.0002	3.478e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	0.0001	0	0.0001	0	0	9.526e-05	0	0.0004	0	0	0.054	0.38633	T	0.004	0.74150	D	0.998	0.73220	D	0.96	0.70309	D	0.036230	0.24547	N	0.292144	0.536478	0.81001	D	2.215	0.62545	M	4.63	0.01817	T	-3.82	0.71997	D	0.269	0.30461	-1.0558	0.12829	T	0.031	0.13461	T	10	0.30764043	0.48266	T	0.022363	0.45241	T	0.156	0.40720	.	.	0.297375071883	0.29337	0.24478352525978161	0.24392	0.200253667059	0.22427	0.393080621958	0.24103	T	0.577605	0.86117	D	-0.379714	0.03129	T	-0.433778	0.29507	T	0.233849555253983	0.22133	T	0.945505	0.79230	D	0.22037883	0.44592	0.19978598	0.43878	0.22037883	0.44592	0.19978598	0.43877	-11.457	0.82105	D	.	.	0.154	0.34183	B	.	.	2.373245	0.30458	18.44	0.99611163474107489	0.74813	0.96283	0.68385	D	AEFGBI	.	.	.	0.452891197038249	0.64366	4.689642	0.307882353683334	0.56002	3.763109	0.986406402006559	0.31058	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	4.97	4.97	0.65419	4.685000	0.61381	.	.	0.606000	0.46413	0.871000	0.30813	1.000000	0.68203	0.005000	0.06747	0.0:0.0:1.0:0.0	17.863	0.88701	219	0.91485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3851.98	46	chr11	62519982	.	G	A	3851.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=1244;ExcessHet=0.0000;FS=11.164;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.64;ReadPosRankSum=0.715;SOR=1.157	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1104	20	0	1	0
chr11	62520312	62520312	G	A	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.C14105T:p.A4702V	.	.	425	1095	2	0	0	2	0.000912409	.	.	2335184	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.59	T	1.0	D	0.945	D	0.160	N	1.000	N	1.495	L	5.84	T	-0.689	T	0.007	T	0.096	1.215	9.931	-10.3	-1.675	-0.860	32.545	0.204	0.0851551582648	7.7e-05	.	9.06e-05	9.612e-05	0	0	0	0.0001	0	0	7.76e-05	12	154602	rs371832611	8.209e-05	8.209e-05	8.167e-05	8.25e-05	0.0003	7.002e-05	6.552e-05	0.0002	0.0002	5.974e-05	2.236e-05	0	0.0003	0	0	9.262e-05	1.656e-05	0	0.0001	0.0001	0.0001	0.0001	0.0002	7.189e-05	5.928e-05	9.103e-05	7.052e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.035	0.43708	D	0.051	0.47828	T	1.0	0.90584	D	0.945	0.68163	D	0.159662	0.17703	N	0.550337	1	0.08975	N	1.675	0.43121	L	5.84	0.00647	T	-2.37	0.52289	N	0.14	0.13911	-0.6885	0.60978	T	0.007	0.02558	T	10	0.14036164	0.26680	T	0.085155	0.74475	D	0.204	0.49076	.	.	0.117506650769	0.11410	0.14045437473127548	0.13968	0.177633600203	0.19989	0.283997356892	0.08056	T	0.241456	0.60999	T	-0.542931	0.00322	T	-0.699586	0.05848	T	0.0892224802631266	0.11124	T	0.693931	0.30359	T	0.048192907	0.08360	0.09507461	0.22533	0.048192907	0.08359	0.09507461	0.22533	-7.459	0.57322	T	.	.	0.294	0.52516	B	.	.	1.230860	0.16258	12.42	0.87891184041234593	0.17558	0.10478	0.15974	N	AEFBI	.	.	.	-1.6108658880133	0.01211	0.05266546	-1.8832793971892	0.00528	0.02341202	0.999934583444545	0.46732	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.16	-10.3	0.00281	-1.290000	0.02886	.	.	-0.185000	0.09859	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.8986:0.1014:0.0	32.545	0.99999	219	0.91485	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	5745.98	46	chr11	62520312	.	G	A	5745.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.805;DP=1382;ExcessHet=0.0000;FS=0.525;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.05;ReadPosRankSum=0.441;SOR=0.617	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1104	20	0	1	0
chr11	62521506	62521506	T	C	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.A12911G:p.D4304G	.	.	431	1088	3	0	0	3	0.00137678	.	.	724521	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.39	T	0.999	D	0.996	D	0.001	D	1.000	D	3.005	M	1.34	T	-0.781	T	0.080	T	0.131	1.973	12.55	5.11	1.930	3.418	14.651	0.210	.	0.0112	0.0123802	0.0032	0.0356	0.0006	0	0	0.0001	0.0011	0	0.0030724	475	154602	rs11828907	0.0010	0.0010	0.0011	0.0008	0.0347	0.0009	0.0009	0.0330	0.0324	0.0347	0.0010	0	0	0	0.0029	7.104e-05	0.0018	8.115e-05	0.0091	0.0091	0.0093	0.0089	0.0319	0.0087	0.0085	0.0305	0.0299	0.0319	0	0.0025	0	0	0	0.0035	0.0002	0.0072	0	0.138	0.25873	T	0.008	0.67890	D	0.999	0.77913	D	0.996	0.84481	D	0.000677	0.42516	D	0.000000	0.998848	0.81001	D	2.56	0.74772	M	1.34	0.34841	T	-3.82	0.71997	D	0.295	0.33360	-0.7815	0.56218	T	0.080	0.31675	T	10	0.0069776773	0.00159	T	.	.	.	0.210	0.50028	.	.	0.402755899245	0.39889	0.1679004457766482	0.16710	0.149780803388	0.16892	0.31705442071	0.12975	T	0.574012	0.85942	D	-0.526257	0.00404	T	-0.502248	0.22114	T	0.0463517932978614	0.04848	T	0.785321	0.42297	T	0.13358858	0.31066	0.19790882	0.43597	0.13358858	0.31066	0.19790882	0.43596	-10.644	0.77670	D	.	.	0.147	0.32396	B	.	.	2.568543	0.33279	19.29	0.99619670569308538	0.75353	0.97318	0.73996	D	AEFBI	.	.	.	0.489428604720896	0.66469	4.954419	0.380460933184982	0.60360	4.222784	0.999751961741005	0.42595	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.11	5.11	0.69188	3.204000	0.50785	.	.	-0.143000	0.12349	0.989000	0.36753	0.000000	0.08366	0.006000	0.07323	0.0:0.0:0.0:1.0	14.651	0.68402	219	0.91485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3918.98	46	chr11	62521506	.	T	C	3918.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.457e+00;DP=1313;ExcessHet=0.0000;FS=13.198;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.28;ReadPosRankSum=0.283;SOR=0.968	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1104	20	0	1	0
chr11	62522304	62522304	T	C	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.A12113G:p.K4038R	.	.	428	1081	13	0	0	13	0.00597701	.	.	2816709	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.17	T	0.033	B	0.04	B	0.001	D	1.000	N	2.6	M	3.45	T	-1.088	T	0.025	T	0.106	0.254	5.373	0.513	-0.184	2.622	8.597	0.098	0.0105667742358	0.0004	0.00139776	0.0017	0.0002	0.0017	0	0	0.0006	0.0022	0.0088	0.0015459	239	154602	rs141451542	0.0011	0.0011	0.0008	0.0013	0.0078	0.0010	0.0010	0.0073	0.0071	0.0002	0.0010	0	2.519e-05	1.872e-05	0.0052	0.0007	0.0012	0.0078	0.0005	0.0006	0.0005	0.0006	0.0073	0.0005	0.0004	0.0054	0.0048	9.689e-05	0	0.0006	0	0	0	0.0034	0.0005	0.0010	0.0073	0.056	0.38185	T	0.009	0.66756	D	0.033	0.20350	B	0.04	0.23831	B	0.000710	0.42254	D	0.155857	1	0.81001	D	2.255	0.64187	M	3.45	0.05311	T	-1.33	0.33197	N	0.204	0.22614	-1.0879	0.05890	T	0.025	0.10509	T	10	0.0066671073	0.00151	T	0.010567	0.27259	T	0.098	0.28162	.	.	0.0666544352282	0.05500	0.04017054820257291	0.03963	0.0251046110797	0.02556	0.26959425211	0.06088	T	0.232998	0.59969	T	-0.605529	0.00135	T	-0.637872	0.09824	T	0.0232876416859672	0.01057	T	0.729427	0.34485	T	0.047471814	0.08121	0.059443366	0.11157	0.047471814	0.08120	0.059443366	0.11156	-8.186	0.62330	D	.	.	0.119	0.24430	B	.	.	1.442932	0.18626	13.84	0.91174288749082821	0.20429	0.79151	0.39168	D	AEFBI	.	.	.	-1.04539440273977	0.07678	0.3575052	-1.1079812973771	0.07547	0.3675084	0.13573514906609	0.17178	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.39	0.513	0.16200	1.278000	0.32784	.	.	-0.353000	0.05553	0.007000	0.17678	0.000000	0.08366	0.006000	0.07323	0.0:0.2389:0.0:0.7611	8.597	0.32885	227	0.91186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2657.98	46	chr11	62522304	.	T	C	2657.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.107e+00;DP=1434;ExcessHet=0.0000;FS=5.430;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.91;MQRankSum=0.810;QD=8.83;ReadPosRankSum=0.192;SOR=0.458	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1104	20	0	1	0
chr11	62522773	62522773	G	C	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.C11644G:p.L3882V	.	.	428	1089	5	0	0	5	0.00229043	.	.	768508	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.32	T	0.981	D	0.955	D	0.006	N	1.000	D	2.105	M	4.11	T	-1.013	T	0.025	T	0.347	0.163	4.878	3.27	0.976	-1.002	10.154	0.137	0.0123438716542	7.7e-05	0.000399361	0.0004	0	8.637e-05	0	0	0.0005	0.0011	0.0011	0.0003622	56	154602	rs201212781	0.0003	0.0003	0.0002	0.0003	0.0024	0.0002	0.0002	0.0015	0.0012	5.974e-05	0	0.0042	0	3.744e-05	0.0024	0.0001	0.0005	0.0013	0.0003	0.0002	0.0002	0.0003	0.0013	0.0002	0.0002	0.0005	0.0004	2.421e-05	0	6.578e-05	0.0043	0	0	0.0034	0.0002	0.0005	0.0013	0.248	0.17239	T	0.16	0.31427	T	0.981	0.59675	D	0.955	0.69585	D	0.005641	0.32621	N	0.000000	0.857409	0.81001	D	1.7	0.43825	L	4.11	0.02916	T	-1.01	0.26639	N	0.114	0.10198	-1.0128	0.26038	T	0.025	0.10553	T	10	0.008676857	0.00196	T	0.012344	0.30825	T	0.137	0.36984	.	.	0.259272394797	0.25527	0.04385794924564063	0.04329	0.207640745802	0.23226	0.293400704861	0.09420	T	0.129719	0.45817	T	-0.505341	0.00533	T	-0.544216	0.17884	T	0.0655137225985527	0.08007	T	0.907009	0.67171	D	0.037599526	0.04850	0.032087598	0.01891	0.037599526	0.04849	0.032087598	0.01891	-7.806	0.59740	D	.	.	0.098	0.16275	B	.	.	0.308610	0.06837	3.366	0.93675002302562027	0.23572	0.30003	0.23970	N	AEFBI	.	.	.	-0.319810837621017	0.28397	1.565894	-0.511548005588858	0.21839	1.183352	0.448243728380017	0.20516	0.736574	0.97449	0	0.732669	0.95671	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.19	3.27	0.36580	-1.490000	0.02409	.	.	-0.285000	0.06363	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0956:0.0:0.9044:0.0	10.154	0.41989	231	0.90996	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	6490.98	46	chr11	62522773	.	G	C	6490.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.660e-01;DP=1722;ExcessHet=0.0000;FS=0.522;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.90;MQRankSum=-4.210e-01;QD=12.75;ReadPosRankSum=-1.714e+00;SOR=0.731	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1104	20	0	1	0
chr11	62529120	62529120	C	G	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.G5297C:p.G1766A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.97	D	0.747	P	.	.	1.000	D	2.9	M	2.26	T	-0.893	T	0.091	T	0.187	-0.077	3.624	3.58	1.700	1.421	15.132	0.137	0.00470689233249	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs76414066	3.352e-05	3.352e-05	3.267e-05	3.438e-05	0.0003	2.566e-05	2.312e-05	6.092e-05	2.589e-05	0	0	0	0	0	0.0003	3.867e-05	6.623e-05	0	5.918e-05	5.911e-05	0.0001	1.346e-05	9.662e-05	3.079e-05	2.211e-05	3.252e-05	1.916e-05	9.662e-05	0	6.544e-05	0	0	0	0	5.881e-05	0	0	0.144	0.25255	T	0.021	0.58089	D	0.97	0.56973	D	0.747	0.55931	P	.	.	.	.	0.987265	0.81001	D	2.78	0.81115	M	2.26	0.17596	T	-2.33	0.51646	N	0.321	0.36148	-0.8935	0.48623	T	0.091	0.34792	T	9	0.20265904	0.36393	T	0.004707	0.11722	T	0.137	0.36984	0.127	0.03251	0.139678290688	0.13603	0.18118799299098412	0.18037	0.180591923931	0.20310	0.307627499104	0.11549	T	0.643033	0.89076	D	-0.218333	0.18221	T	-0.53591	0.18701	T	0.146111023781262	0.16790	T	0.848415	0.52967	T	0.07757345	0.17616	0.11427742	0.27583	0.07757345	0.17616	0.11427742	0.27582	-9.095	0.68305	D	.	.	0.239	0.47305	B	.	.	0.714487	0.10832	7.513	0.72636426652376163	0.10042	0.71389	0.34992	D	AEFBI	.	.	.	-0.228172338764297	0.31982	1.798872	-0.446804778062224	0.23639	1.290219	0.999972990996052	0.50053	0.67177	0.52595	0	0.708844	0.79440	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	3.58	3.58	0.40133	1.924000	0.39695	.	.	0.434000	0.20985	0.107000	0.22934	0.922000	0.28345	0.013000	0.09966	0.0:1.0:0.0:0.0	15.132	0.72211	261	0.89765	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3460.98	46	chr11	62529120	.	C	G	3460.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.200;DP=1709;ExcessHet=0.0000;FS=3.570;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.30;ReadPosRankSum=1.36;SOR=0.938	GT:AD:DP:GQ:PL	0/1:117,125:242:99:3475,0,3214	20	0	1	0
chr11	62529244	62529244	A	G	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.T5173C:p.F1725L	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.982	D	0.961	D	0.042	U	1.000	N	2.09	M	5.6	T	-0.951	T	0.011	T	0.33	0.426	6.316	3.9	1.519	0.540	12.688	0.147	0.00770319800417	.	.	4.118e-05	0	0	0	0	4.495e-05	0.0011	6.056e-05	3.23e-05	5	154602	rs758756116	4.104e-06	5.472e-06	4.084e-06	4.125e-06	0.0002	1.48e-06	9.7e-07	8.4e-07	5.7e-07	0	0	0	2.519e-05	0	0.0002	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.06361	T	1.0	0.01155	T	0.982	0.60036	D	0.961	0.70482	D	0.041871	0.23902	U	0.208574	1	0.81001	D	1.645	0.42016	L	5.6	0.00825	T	-2.62	0.56301	D	0.216	0.24135	-0.9505	0.40885	T	0.011	0.03903	T	10	0.20952854	0.37318	T	0.007703	0.20431	T	0.147	0.38986	0.083	0.00760	0.375861065471	0.37200	0.047300225875261476	0.04673	0.0531681059667	0.05860	0.340151846409	0.16461	T	0.532003	0.83822	D	-0.341952	0.05253	T	-0.547439	0.17572	T	0.309723615646362	0.25403	T	0.722728	0.33613	T	0.12941003	0.30227	0.11917451	0.28766	0.12941003	0.30227	0.11917451	0.28765	-6.958	0.53727	T	.	.	0.709	0.73347	P	.	.	1.223940	0.16181	12.37	0.87118178279035641	0.17001	0.16543	0.19437	N	AEFBI	.	.	.	-0.023278539965891	0.40803	2.429478	-0.176246152033239	0.32412	1.843765	0.999739938491684	0.42341	0.67177	0.52595	0	0.708844	0.79440	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	3.9	3.9	0.44240	-0.102000	0.10926	.	.	-0.296000	0.06234	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	1.0:0.0:0.0:0.0	12.688	0.56323	261	0.89765	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3606.98	46	chr11	62529244	.	A	G	3606.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.620e-01;DP=1637;ExcessHet=0.0000;FS=0.413;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=0.337;SOR=0.739	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,108,1620	20	0	1	0
chr11	62529703	62529703	T	C	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.A4714G:p.M1572V	.	.	425	1090	7	0	0	7	0.00320073	.	.	738066	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.002	B	0.007	B	.	.	1.000	N	1.68	L	5.29	T	-0.864	T	0.004	T	0.122	-1.100	0.143	3.27	1.613	-0.170	5.419	0.040	0.01114810186	0.0009	0.00139776	0.0016	0.0004	0.0029	0	0	0.0022	0.0077	0.0001	0.0016753	259	154602	rs115693058	0.0014	0.0014	0.0014	0.0015	0.0137	0.0014	0.0014	0.0113	0.0104	0.0019	0.0042	0.0121	5.038e-05	1.872e-05	0.0137	0.0011	0.0034	0.0001	0.0017	0.0017	0.0017	0.0017	0.0061	0.0016	0.0015	0.0051	0.0048	0.0005	0	0.0061	0.0101	0	0	0.0068	0.0014	0.0066	0.0002	0.474	0.08384	T	0.037	0.51737	D	0.002	0.09854	B	0.007	0.12992	B	.	.	.	.	1	0.81001	D	1.15	0.29295	L	5.29	0.01100	T	-1.58	0.38151	N	0.361	0.40264	-0.8638	0.50988	T	0.004	0.01295	T	9	0.004496306	0.00092	T	0.011148	0.28477	T	0.040	0.10527	.	.	0.0846915920261	0.08053	0.04973801570905968	0.04916	0.198562835611	0.22235	0.313486933708	0.12434	T	0.157185	0.49968	T	-0.631526	0.00094	T	-0.680201	0.06972	T	0.00524372369048441	0.00057	T	0.670533	0.27914	T	0.06633842	0.14263	0.08281498	0.18931	0.06633842	0.14262	0.08281498	0.18931	-3.778	0.20476	T	.	.	0.100	0.17060	B	.	.	0.557260	0.09259	6.040	0.49762219704924177	0.04266	0.17716	0.19957	N	AEFBI	.	.	.	-0.850912653523334	0.12027	0.583821	-0.823082641606897	0.13937	0.7256371	0.88862766753706	0.25793	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	4.4	3.27	0.36580	-1.361000	0.02704	.	.	0.603000	0.45986	0.000000	0.06391	0.769000	0.26685	0.030000	0.13115	0.0:0.1036:0.3628:0.5336	5.419	0.15687	263	0.89692	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2680.98	46	chr11	62529703	.	T	C	2680.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.386e+00;DP=1565;ExcessHet=0.0000;FS=3.967;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=0.164;SOR=0.471	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,108,1620	20	0	1	0
chr11	62531839	62531839	C	T	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.G2578A:p.D860N	.	.	436	1081	5	0	0	5	0.00230734	.	.	768512	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.41	T	0.995	D	0.91	D	0.000	D	1.000	D	2.935	M	5.03	T	-0.992	T	0.024	T	0.161	2.539	14.45	5.16	2.580	2.596	18.612	0.170	0.0154652397095	7.7e-05	0.000399361	0.0004	0	8.637e-05	0	0	0.0005	0.0011	0.0011	0.0003687	57	154602	rs200147726	0.0003	0.0003	0.0002	0.0003	0.0024	0.0002	0.0002	0.0015	0.0012	5.974e-05	0	0.0042	0	3.744e-05	0.0024	0.0001	0.0005	0.0013	0.0003	0.0002	0.0002	0.0003	0.0013	0.0002	0.0002	0.0005	0.0004	2.423e-05	0	6.578e-05	0.0043	0	0	0.0034	0.0002	0.0005	0.0013	0.212	0.19500	T	0.003	0.76473	D	0.995	0.67487	D	0.91	0.64641	D	0.000395	0.44960	D	0.000000	0.571248	0.81001	D	2.725	0.79712	M	5.03	0.01287	T	-3.33	0.66206	D	0.176	0.18920	-0.9923	0.32012	T	0.024	0.10013	T	10	0.01361689	0.00288	T	0.015465	0.36219	T	0.170	0.43303	.	.	0.3085936734	0.30458	0.37525385869205524	0.37439	0.199506900413	0.22347	0.438601225615	0.30386	T	0.56318	0.85412	D	-0.488613	0.00661	T	-0.520187	0.20276	T	0.262506514787674	0.23424	T	0.845915	0.52533	T	0.14968346	0.34112	0.15412515	0.36187	0.14968346	0.34112	0.15412515	0.36186	-6.461	0.49984	T	.	.	0.107	0.20157	B	.	.	2.771592	0.36384	20.2	0.99773588923158985	0.86088	0.70461	0.34600	D	AEFGBCI	.	.	.	0.509123998052241	0.67627	5.106976	0.432156400070938	0.63578	4.594496	0.999999028114982	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.16	5.16	0.70563	2.588000	0.45802	.	.	0.594000	0.32500	0.993000	0.37899	1.000000	0.68203	0.200000	0.21896	0.0:1.0:0.0:0.0	18.612	0.91244	272	0.89337	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	5791.98	46	chr11	62531839	.	C	T	5791.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.271;DP=1371;ExcessHet=0.0000;FS=2.429;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.02;ReadPosRankSum=-1.090e-01;SOR=0.550	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,108,1620	20	0	1	0
chr11	62575658	62575658	G	C	exonic	TUT1	.	nonsynonymous SNV	TUT1:NM_022830:exon9:c.C2061G:p.D687E,	.	.	396	1123	3	0	0	3	0.00133393	.	.	724532	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.23	T	0.002	B	0.003	B	0.486	N	1.000	N	0.695	N	1.39	T	-1.063	T	0.012	T	0.015	-1.853	0.009	-9.98	-2.020	-3.604	7.364	0.036	.	0.0119	0.0131789	0.0035	0.0391	0.0007	0	0	0.0002	0.0011	6.056e-05	0.0033699	521	154602	rs34320415	0.0011	0.0011	0.0012	0.0009	0.0389	0.0010	0.0010	0.0372	0.0365	0.0389	0.0012	0	0	0	0.0031	5.755e-05	0.0020	0.0001	0.0099	0.0099	0.0102	0.0096	0.0347	0.0095	0.0093	0.0332	0.0326	0.0347	0	0.0029	0	0	0	0.0034	0.0002	0.0071	0	0.586	0.05881	T	0.658	0.06554	T	0.001	0.09854	B	0.003	0.08700	B	0.485557	0.05006	N	1.265930	1	0.08975	N	1.32	0.33002	L	1.37	0.34253	T	0.07	0.06138	N	0.052	0.05670	-1.0628	0.11069	T	0.012	0.04605	T	10	0.0017508566	0.00022	T	.	.	.	0.036	0.09122	0.155	0.05858	0.193865811164	0.18958	0.05511174877733182	0.05452	0.202735499337	0.22694	0.286004006863	0.08344	T	0.016765	0.13794	T	-0.726631	0.00025	T	-0.787256	0.02241	T	0.00187375558026153	0.00019	T	0.471653	0.14010	T	0.039410494	0.05437	0.0278855	0.00977	0.03139869	0.02972	0.028870465	0.01164	-2.201	0.04045	T	0.10756032468440896	0.08770	0.11	0.21201	B	.;.	.;.	-2.086312	0.00083	0.001	0.49940567481740616	0.04297	0.05595	0.11499	N	AEFBCI	0.078710	0.15886	N	-1.65512642777168	0.01013	0.04394067	-1.7713591762101	0.00855	0.03821758	0.999999999953252	0.74766	0.660085	0.49399	0	0.685571	0.66316	0	0.662677	0.59975	0	0.638787	0.57140	0	.	.	5.53	-9.98	0.00361	-1.830000	0.01793	.	.	-1.032000	0.01689	0.000000	0.06391	0.000000	0.08366	0.065000	0.16320	0.232:0.0:0.4653:0.3027	7.364	0.25933	176	0.93188	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2396.98	34	chr11	62575658	.	G	C	2396.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.956;DP=923;ExcessHet=0.0000;FS=7.656;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=-7.400e-02;SOR=0.660	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1290	20	0	1	0
chr11	62578703	62578703	T	C	exonic	TUT1	.	nonsynonymous SNV	TUT1:NM_001367906:exon5:c.A1018G:p.M340V	.	.	.	.	.	.	.	.	.	.	.	2342329	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.68	T	0.0	B	0.002	B	0.001	N	0.999	N	-0.77	N	1.08	T	-0.997	T	0.032	T	0.099	1.124	9.585	1.88	0.079	0.827	7.694	0.013	0.00263711855062	0.0002	.	0.0001	9.61e-05	0.0004	0	0	0.0001	0	6.057e-05	0.0001035	16	154602	rs370164368	5.062e-05	5.062e-05	5.173e-05	4.95e-05	0.0005	4.125e-05	3.778e-05	0.0001	9.193e-05	5.974e-05	0.0002	0	7.557e-05	0	0.0005	4.317e-05	4.967e-05	5.797e-05	0.0001	0.0001	0.0001	8.071e-05	0.0002	7.092e-05	5.748e-05	6.283e-05	4.3e-05	0.0001	0	0.0002	0	0	0	0	8.82e-05	0.0005	0.0002	0.528	0.07071	T	0.954	0.02589	T	0.0	0.02946	B	0.002	0.06944	B	0.001033	0.40562	N	0.309039	0.999072	0.21650	N	0.425	0.12573	N	1.08	0.39401	T	1.16	0.01136	N	0.094	0.08786	-0.9967	0.30838	T	0.032	0.13898	T	10	0.04242021	0.02990	T	0.002637	0.05377	T	0.013	0.01715	.	.	0.259272394797	0.25527	0.21872412852969172	0.21788	0.217758960857	0.24300	0.390337616205	0.23718	T	0.018389	0.14834	T	-0.471461	0.00832	T	-0.621511	0.11067	T	0.0120347094784513	0.00190	T	0.59564	0.22108	T	0.11279546	0.26644	0.07064107	0.15032	0.11279546	0.26643	0.07064107	0.15031	-0.816	0.00817	T	0.14064081583022586	0.15756	0.069	0.02993	B	.;.	.;.	0.728888	0.10979	7.643	0.82584755751925365	0.14269	0.54497	0.29630	D	AEFBI	0.050552	0.08847	N	-0.767855190844079	0.14153	0.7027209	-0.560220049526971	0.20534	1.106786	0.999671941191401	0.41644	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.44	1.88	0.24630	0.836000	0.27198	.	.	0.665000	0.62972	0.988000	0.36536	0.988000	0.31051	0.957000	0.51019	0.0:0.25:0.0:0.75	7.694	0.27747	176	0.93188	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1121.98	35	chr11	62578703	.	T	C	1121.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=861;ExcessHet=0.0000;FS=1.711;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=1.84;SOR=0.965	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1268	20	0	1	0
chr11	62609085	62609085	C	T	exonic	EML3	.	nonsynonymous SNV	EML3:NM_001300793:exon7:c.G809A:p.R270H	.	.	419	1100	3	0	0	3	0.00136178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.953	D	0.000	D	0.987	D	0.55	N	1.53	T	-1.006	T	0.093	T	0.579	4.098	21.1	4.88	1.437	4.331	8.257	0.287	0.0161943283329	0.0019	0.000599042	0.0023	9.638e-05	0.0007	0	0.0030	0.0035	0	0.0012	0.0022639	350	154602	rs35971607	0.0019	0.0019	0.0019	0.0019	0.0021	0.0019	0.0018	0.0020	0.0020	0.0002	0.0009	0	0	0.0049	0.0016	0.0021	0.0014	0.0011	0.0014	0.0014	0.0014	0.0015	0.0021	0.0013	0.0012	0.0018	0.0017	0.0003	0	0.0007	0	0	0.0048	0	0.0021	0	0.0010	0.002	0.78490	D	0.004	0.76473	D	1.0	0.90584	D	0.953	0.69275	D	0.000011	0.62929	D	0.116735	0.987283	0.40565	D	0.205	0.09354	N	1.53	0.30401	T	-0.5	0.16393	N	0.238	0.30914	-1.0057	0.28247	T	0.093	0.35417	T	10	0.009855926	0.00221	T	0.016194	0.37323	T	0.287	0.60574	.	.	0.29132392195	0.28731	0.22879251741478132	0.22794	1.89300675512	0.92739	0.598446965218	0.52684	T	0.015255	0.12830	T	-0.38347	0.02962	T	-0.327908	0.41701	T	0.0423071082684086	0.04110	T	0.983602	0.94423	D	0.15344724	0.34782	0.1074887	0.25877	0.15344724	0.34781	0.1074887	0.25876	-7.648	0.60483	D	.	.	0.096	0.15385	B	.;.;.;.;.	.;.;.;.;.	5.258508	0.88295	29.5	0.99953918312932388	0.99963	0.87573	0.47157	D	AEFDBI	0.531005	0.55147	D	0.419593316604151	0.62499	4.466912	0.469577376650903	0.65983	4.893333	0.998050888524309	0.36367	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.79	4.88	0.63131	3.865000	0.55744	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7593:0.1591:0.0816	8.257	0.30921	185	0.92771	HELP;HELP;HELP;HELP;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2064.98	34	chr11	62609085	.	C	T	2064.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.191;DP=913;ExcessHet=0.0000;FS=2.536;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=1.87;SOR=0.527	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1452	20	0	1	0
chr11	62639415	62639415	A	T	exonic	GANAB	.	nonsynonymous SNV	GANAB:NM_198334:exon3:c.T196A:p.S66T	Polycyctic kidney disease 3, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.001	B	0.011	B	0.013	N	1.000	D	0.075	N	-2.36	D	-0.794	T	0.364	T	0.068	1.035	9.229	0.783	-0.051	1.201	9.204	0.178	0.0185052366832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.587e-06	6.571e-06	1.287e-05	0	6.569e-05	0	0	.	.	0	0	6.569e-05	0	0	0	0	0	0	0	0.822	0.04069	T	0.905	0.03004	T	0.001	0.07471	B	0.011	0.15521	B	0.012656	0.29101	N	0.353337	0.767948	0.81001	D	0.35	0.11930	N	-2.41	0.88533	D	0.01	0.10656	N	0.14	0.14196	-0.7941	0.55491	T	0.364	0.72491	T	10	0.11424944	0.21489	T	0.018505	0.40597	T	0.178	0.44724	0.59	0.71874	0.437347911502	0.43356	0.6018645898037113	0.60117	0.144314673095	0.16289	0.489129304886	0.37318	T	0.059025	0.31003	T	-0.117118	0.33595	T	-0.406008	0.32687	T	0.0577952265739441	0.06816	T	0.652235	0.32195	T	0.026725117	0.01766	0.04070552	0.04459	0.026725117	0.01766	0.04070552	0.04459	-5.989	0.46188	T	.	.	0.089	0.12037	B	.;.	.;.	1.140088	0.15271	11.72	0.771689832438468	0.11764	0.66146	0.32977	D	AEFGBHI	0.031306	0.03316	N	-0.639983708750584	0.17753	0.9161597	-0.475833660982722	0.22821	1.241466	0.996459798463076	0.34757	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.79	0.783	0.17717	1.257000	0.32536	.	.	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	0.993000	0.69303	0.4393:0.0:0.0:0.5607	9.204	0.36437	270	0.89404	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1511.98	38	chr11	62639415	.	A	T	1511.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.500e-02;DP=847;ExcessHet=0.0000;FS=3.434;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=1.10;SOR=1.078	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1307	20	0	1	0
chr11	62664850	62664850	C	T	exonic	C11orf98;LBHD1	.	nonsynonymous SNV	C11orf98:NM_001286086:exon2:c.G163A:p.A55T	.	.	430	1091	1	0	0	1	0.000458085	0.0003	0.042	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.739	P	0.221	B	.	.	0.998	N	0.345	N	.	.	-1.076	T	0.038	T	0.396	1.940	12.44	2.94	0.722	0.783	6.347	0.021	0.0165875810886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.074e-07	1.368e-06	1.399e-06	0	9.201e-07	0	0	.	.	0	0	0	0	0	0	9.201e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.48186	D	0.085	0.42086	T	0.739	0.42933	P	0.221	0.37837	B	.	.	.	.	0.999147	0.22310	N	.	.	.	.	.	.	-4.81	0.80767	D	0.551	0.61172	-1.0758	0.08184	T	0.038	0.16333	T	8	0.26549524	0.44046	T	0.016588	0.37919	T	0.156	0.40720	0.047	0.00071	0.0138822411134	0.00435	0.015516402913256832	0.01507	0.0222234791578	0.02231	.	.	.	0.068938	0.33583	T	0.00896629	0.52884	T	-0.224897	0.52264	T	0.538087785243988	0.34033	D	0.446155	0.12501	T	0.28340375	0.51372	0.38772935	0.63634	0.28340375	0.51372	0.38772935	0.63634	-4.618	0.32410	T	.	.	0.263	0.49731	B	.;.;.	.;.;.	3.310298	0.45477	22.1	0.99153766430860901	0.53903	0.43307	0.27069	N	ALL	0.296475	0.40631	N	-0.38901818966673	0.25859	1.406909	-0.341902129841093	0.26759	1.48022	0.99999999991775	0.74766	0.441713	0.08003	0	0.504199	0.08210	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.84	2.94	0.33188	0.832000	0.27143	.	.	-0.813000	0.03045	0.947000	0.32937	0.998000	0.33993	0.647000	0.32611	0.3318:0.5818:0.0:0.0864	6.347	0.20558	388	0.83355	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	359.98	38	chr11	62664850	.	C	T	359.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.697;DP=766;ExcessHet=0.0000;FS=4.032;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.67;ReadPosRankSum=0.145;SOR=1.264	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1196	20	0	1	0
chr11	62721306	62721306	T	C	exonic	HNRNPUL2	.	nonsynonymous SNV	HNRNPUL2:NM_001079559:exon9:c.A1600G:p.I534V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.98	D	0.833	P	0.000	D	1.000	D	2.36	M	0.85	T	-0.558	T	0.268	T	0.489	4.492	24.1	6.17	2.371	7.655	14.774	0.203	0.0101836284937	.	.	8.28e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs773085294	7.556e-06	8.209e-06	6.834e-06	8.285e-06	0.0003	4.06e-06	2.96e-06	6.103e-05	2.525e-05	0	0	0	0	0	0.0003	5.404e-06	3.325e-05	1.181e-05	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.003	0.76473	D	0.98	0.59353	D	0.833	0.59784	P	0.000000	0.84330	D	0.048793	0.999916	0.51042	D	2.835	0.82492	M	0.85	0.47130	T	-0.95	0.25332	N	0.624	0.63883	-0.5577	0.66492	T	0.268	0.63992	T	10	0.60425127	0.67084	D	0.010184	0.26412	T	0.203	0.48915	0.462	0.53079	0.523171964673	0.51961	0.6821099912903715	0.68149	1.15268127864	0.79260	0.776209652424	0.78356	T	0.132651	0.46286	T	-0.0706711	0.41220	T	-0.234005	0.51383	T	0.892781972885132	0.54392	D	0.936406	0.76145	D	0.46583533	0.65034	0.35085642	0.60689	0.46583533	0.65035	0.35085642	0.60688	-9.076	0.68184	D	.	.	0.367	0.57665	A	.	.	4.749756	0.76689	26.6	0.99861511039370998	0.94002	0.99452	0.96206	D	AEBI	0.871378	0.79274	D	0.795329924971335	0.85814	8.689479	0.806956742148253	0.90274	10.33277	0.999999999993575	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	6.17	6.17	0.99707	7.604000	0.82059	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.774	0.69335	469	0.78175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1675.98	33	chr11	62721306	.	T	C	1675.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=790;ExcessHet=0.0000;FS=5.226;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.59;ReadPosRankSum=0.477;SOR=1.270	GT:AD:DP:GQ:PL	0/1:38,63:101:99:1690,0,820	20	0	1	0
chr11	62786293	62786293	A	G	exonic	TAF6L	.	nonsynonymous SNV	TAF6L:NM_006473:exon10:c.A994G:p.T332A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.008	B	0.000	D	1.000	D	0.41	N	-0.18	T	-0.970	T	0.134	T	0.156	1.862	12.19	5.72	2.319	4.608	14.297	0.044	0.0102975998228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344	0.12552	T	0.717	0.05398	T	0.0	0.02946	B	0.008	0.13708	B	0.000079	0.52346	D	0.137595	0.944172	0.37438	D	0.655	0.16177	N	-0.18	0.65747	T	-1.31	0.32791	N	0.104	0.08786	-0.9695	0.37304	T	0.134	0.44759	T	10	0.19621837	0.35505	T	0.010298	0.26676	T	0.044	0.11924	0.6	0.73105	0.2338531098	0.23012	0.11288828912055503	0.11216	0.642582153666	0.57820	0.716799974442	0.69581	T	0.021678	0.16841	T	-0.104149	0.35736	T	-0.387379	0.34858	T	0.708764016628265	0.41140	D	0.762924	0.38892	T	0.122662865	0.28819	0.10302764	0.24710	0.122662865	0.28819	0.10302764	0.24710	-6.381	0.49361	T	.	.	0.068	0.02797	B	.	.	2.935815	0.39022	20.9	0.93893346898913554	0.23919	0.82431	0.41660	D	AEFDBHCI	0.458942	0.50976	N	-0.158872094324109	0.34859	1.995068	0.0824114644873746	0.43665	2.663533	0.999999999308189	0.74766	0.733237	0.96898	0	0.600757	0.49542	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.72	5.72	0.89380	3.940000	0.56310	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	14.297	0.65872	740	0.53092	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1855.98	34	chr11	62786293	.	A	G	1855.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.930e-01;DP=859;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=-7.780e-01;SOR=0.709	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1316	20	0	1	0
chr11	62787435	62787435	G	A	exonic	TMEM179B	.	nonsynonymous SNV	TMEM179B:NM_001363599:exon1:c.G4A:p.A2T	.	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.049	B	0.02	B	0.000	D	1.000	N	1.935	M	.	.	-0.818	T	0.145	T	0.302	4.424	23.5	3.73	1.173	4.676	8.718	0.063	0.0710885287682	7.8e-05	.	0.0003	0	0.0006	0	0	0.0002	0	0.0007	9.06e-05	14	154602	rs374217510	0.0001	0.0001	7.998e-05	0.0002	0.0016	0.0001	9.668e-05	0.0008	0.0007	0	0.0002	0	0	0	0.0016	6.118e-05	0.0001	0.0009	3.94e-05	3.94e-05	2.568e-05	5.377e-05	6.539e-05	1.715e-05	1.129e-05	1.972e-05	1.124e-05	0	0	6.539e-05	0	0	0	0	5.878e-05	0.0005	0	0.012	0.54683	D	0.039	0.54541	D	0.049	0.22227	B	0.02	0.19048	B	0.000065	0.52346	D	0.125595	0.731453	0.29825	N	2.615	0.76484	M	.	.	.	-2.85	0.60029	D	0.705	0.73645	-0.8181	0.54053	T	0.145	0.46932	T	9	0.4701207	0.59810	T	0.071089	0.71177	D	0.063	0.18251	.	.	0.239305524855	0.23518	0.8057930500508523	0.80534	0.13454721048	0.15155	0.766670227051	0.76925	T	0.145707	0.48296	T	-0.271688	0.11570	T	-0.260445	0.48781	T	0.376107811927795	0.28033	T	0.371663	0.08799	T	0.20425704	0.42530	0.3111906	0.57126	0.20425704	0.42530	0.3111906	0.57126	-6.342	0.49055	T	.	.	0.214	0.49412	B	.;.	.;.	4.263720	0.64821	24.8	0.99852216537855087	0.93102	0.47304	0.27953	N	ALL	0.592680	0.58829	D	-0.052559423005431	0.39487	2.32948	0.0463383213255315	0.41896	2.524696	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.372554	0.06265	0	.	.	4.64	3.73	0.41982	5.010000	0.63761	.	.	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.577000	0.30821	0.1041:0.0:0.8959:0.0	8.718	0.33587	740	0.53092	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	782.98	38	chr11	62787435	.	G	A	782.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.780e-01;DP=818;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.50;ReadPosRankSum=0.523;SOR=0.704	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,110,1364	20	0	1	0
chr11	62789988	62789988	G	A	exonic	TMEM179B	.	nonsynonymous SNV	TMEM179B:NM_001363601:exon4:c.G436A:p.D146N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.999	D	0.974	D	0.000	D	1.000	D	1.87	L	.	.	-0.487	T	0.309	T	0.092	4.503	24.2	4.45	1.235	0.939	11.233	0.092	0.0079040878907	.	.	1.649e-05	0	0	0	0	3e-05	0	0	1.29e-05	2	154602	rs768116893	1.847e-05	1.847e-05	1.77e-05	1.925e-05	2.338e-05	1.265e-05	1.084e-05	1.627e-05	1.382e-05	0	0	0	0	1.872e-05	0	2.338e-05	0	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.047	0.40319	D	0.0	0.92824	D	0.999	0.77913	D	0.974	0.73157	D	0.000360	0.45440	D	0.224693	0.975816	0.81001	D	2.255	0.64187	M	.	.	.	-2.17	0.49018	N	0.095	0.07535	-0.4870	0.69115	T	0.309	0.67976	T	9	0.21178055	0.37617	T	0.007904	0.20955	T	0.092	0.26621	0.169	0.07419	0.269558022972	0.26553	0.3209501666749614	0.32008	0.0173837147037	0.01686	0.369395583868	0.20745	T	0.088559	0.38184	T	-0.205361	0.20036	T	-0.469118	0.25611	T	0.79795628786087	0.46215	D	0.714229	0.32652	T	0.11839952	0.27897	0.10298984	0.24700	0.11839952	0.27897	0.10298984	0.24699	-3.992	0.23683	T	.	.	0.145	0.32054	B	.	.	3.294952	0.45205	22.1	0.99912930384592635	0.98167	0.50935	0.28778	D	AEFDBHCI	0.355257	0.44705	N	0.359676879906344	0.59252	4.103152	0.303299799086285	0.55733	3.73617	0.999999974028561	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.38	4.45	0.53365	1.235000	0.32274	.	.	0.676000	0.76740	0.672000	0.28366	0.001000	0.17328	0.997000	0.79791	0.0:0.0:0.8168:0.1832	11.233	0.48153	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1627.98	35	chr11	62789988	.	G	A	1627.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.640e+00;DP=861;ExcessHet=0.0000;FS=4.093;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=-8.170e-01;SOR=0.411	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr11	62885478	62885478	G	T	exonic	SLC3A2	.	nonsynonymous SNV	SLC3A2:NM_001013251:exon7:c.G1013T:p.R338M	.	.	423	1059	37	3	0	43	0.0198982	.	.	738088	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.889	P	0.608	P	0.053	N	1.000	N	1.975	M	-5.27	D	0.805	D	0.942	D	0.565	3.445	17.66	3.77	2.181	2.967	10.08	0.258	.	0.0015	0.00359425	0.0030	0.0003	0.0025	0	0.0026	0.0028	0.0044	0.0076	0.0027167	420	154602	rs116829615	0.0020	0.0020	0.0018	0.0023	0.0267	0.0020	0.0019	0.0233	0.0219	0.0008	0.0025	0.0021	0	0.0039	0.0267	0.0015	0.0026	0.0069	0.0019	0.0019	0.0018	0.0020	0.0054	0.0017	0.0016	0.0038	0.0032	0.0004	0	0.0027	0.0014	0	0.0040	0.0102	0.0022	0.0028	0.0054	0.077	0.42199	T	0.06	0.50809	T	0.849	0.46879	P	0.608	0.51027	P	0.052793	0.22864	N	0.470559	0.999875	0.50225	D	1.995	0.54099	M	-5.91	0.99439	D	-1.56	0.37759	N	0.332	0.38438	0.805	0.94471	D	0.942	0.98081	D	10	0.008940965	0.00202	T	.	.	.	0.692	0.88820	.	.	0.810755673742	0.80898	0.8141359971728617	0.81369	0.733038358698	0.62820	0.341537356377	0.16668	T	0.60061	0.87194	D	-0.129223	0.31621	T	0.045329	0.73276	D	0.0083581585620973	0.00101	T	0.727127	0.34152	T	0.24260016	0.47190	0.089474104	0.20926	0.24260016	0.47189	0.089474104	0.20925	-8.442	0.67387	D	.	.	0.194	0.41526	B	.;.;.;.;.	.;.;.;.;.	4.096027	0.61034	24.3	0.90343711667841153	0.19608	0.76472	0.37508	D	AEFDGBHCI	0.599319	0.59238	D	0.0127040470589235	0.42432	2.556541	-0.0203591481341204	0.38798	2.290901	0.999999999598289	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.696144	0.63334	0	0.638787	0.57140	0	.	.	4.75	3.77	0.42499	2.765000	0.47304	.	.	0.597000	0.34315	0.630000	0.27999	1.000000	0.68203	0.938000	0.47775	0.0:0.2044:0.7956:0.0	10.08	0.41556	804	0.43891	Glycosyl hydrolase, family 13, catalytic domain;Glycosyl hydrolase, family 13, catalytic domain;.;Glycosyl hydrolase, family 13, catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2051.98	39	chr11	62885478	.	G	T	2051.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.748e+00;DP=902;ExcessHet=0.0000;FS=7.458;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=0.462;SOR=0.929	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr11	62910170	62910170	C	T	exonic	CHRM1	.	nonsynonymous SNV	CHRM1:NM_000738:exon2:c.G931A:p.A311T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.0	B	0.002	B	0.155	N	1.000	N	-0.69	N	0.26	T	-1.049	T	0.067	T	0.196	-0.620	1.245	3.87	1.229	2.645	10.708	0.039	0.00830803059818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.04987	T	0.558	0.09175	T	0.0	0.02946	B	0.002	0.06944	B	0.154817	0.17850	N	0.470592	1	0.08975	N	-0.22	0.03977	N	0.26	0.59583	T	0.13	0.05503	N	0.123	0.11483	-1.0486	0.14790	T	0.067	0.27674	T	10	0.05721578	0.06537	T	0.008308	0.22004	T	0.039	0.10176	0.295	0.25881	0.472611402724	0.46890	0.48849885891831335	0.48769	1.08132311467	0.77145	0.447905778885	0.31658	T	0.210693	0.57125	T	-0.178759	0.23919	T	-0.494551	0.22916	T	0.0854483917355537	0.10669	T	0.553645	0.19140	T	0.059083946	0.11966	0.078784086	0.17678	0.059083946	0.11966	0.078784086	0.17678	-4.593	0.32083	T	.	.	0.062	0.01692	B	.;.	.;.	1.998142	0.25390	16.74	0.80733071635917653	0.13343	0.58653	0.30700	D	AEFDGBI	0.206327	0.33260	N	-0.716879269514816	0.15548	0.7844788	-0.544263881376332	0.20958	1.131546	0.99999554017608	0.74766	0.495158	0.18159	0	0.59043	0.45803	0	0.535252	0.11790	0	0.613276	0.41899	0	.	.	4.79	3.87	0.43823	2.859000	0.48063	.	.	0.599000	0.40250	0.739000	0.29016	0.703000	0.26245	0.943000	0.48514	0.0:0.9064:0.0:0.0936	10.708	0.45164	804	0.43891	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2562.98	35	chr11	62910170	.	C	T	2562.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.450e-01;DP=1059;ExcessHet=0.0000;FS=4.573;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=-1.630e+00;SOR=0.470	GT:AD:DP:GQ:PL	0/0:63,0:63:99:0,120,1800	20	0	1	0
chr11	63118837	63118837	C	T	exonic	SLC22A24	.	nonsynonymous SNV	SLC22A24:NM_173586:exon4:c.G905A:p.G302E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.044	B	0.074	B	0.544	U	1.000	N	.	.	-0.01	T	-0.958	T	0.134	T	0.04	0.910	8.704	-2.26	-0.473	-0.599	2.964	0.041	0.00549068314481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.033e-06	3.424e-06	1.506e-06	4.58e-06	0.0005	7.1e-07	4.8e-07	0.0001	7.871e-05	0	0	0	0	0	0.0005	0	1.804e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.025	0.56192	D	.	.	.	.	.	.	0.544484	0.11501	U	0.733388	1	0.08975	N	.	.	.	-0.01	0.62762	T	-1.05	0.27463	N	0.151	0.15469	-0.9584	0.39479	T	0.134	0.44836	T	9	0.10338849	0.19003	T	0.005491	0.14136	T	0.041	0.10877	0.452	0.51448	0.167679373172	0.16340	.	.	.	.	.	.	.	.	.	.	-0.281502	0.10509	T	-0.642134	0.09514	T	0.268281489610672	0.23673	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.08033	B	.	.	0.094196	0.04970	1.535	0.64577251232113286	0.07532	0.00300	0.01598	N	AEFBI	0.028016	0.02391	N	-1.23112767352608	0.04554	0.2057909	-1.36373046019578	0.03647	0.1705368	3.40065103288082E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.84	-2.26	0.06478	-0.595000	0.05822	-12.808000	0.00499	-0.542000	0.04929	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2056:0.306:0.0:0.4884	2.964	0.05540	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1237.98	33	chr11	63118837	.	C	T	1237.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.40;DP=786;ExcessHet=0.0000;FS=1.660;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.76;ReadPosRankSum=-7.220e-01;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,105,1215	20	0	1	0
chr11	63143643	63143643	C	G	exonic	SLC22A24	.	nonsynonymous SNV	SLC22A24:NM_001136506:exon1:c.G137C:p.S46T	.	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.354	B	0.119	B	0.589	U	1.000	N	1.15	L	1.21	T	-1.037	T	0.053	T	0.092	0.509	6.759	-0.762	-0.070	-2.493	3.184	0.003	0.00315125852632	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1462387106	1.867e-05	2.052e-05	2.063e-05	1.669e-05	0.0003	1.279e-05	1.096e-05	6.141e-05	2.539e-05	0	0	0	0	0	0.0003	1.901e-05	5.022e-05	1.197e-05	1.315e-05	1.313e-05	2.57e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.014	0.53172	D	0.17	0.30631	T	0.354	0.33710	B	0.119	0.32162	B	0.588987	0.11068	U	0.790897	1	0.08975	N	.	.	.	1.21	0.37230	T	-1.72	0.42575	N	0.137	0.13484	-1.0372	0.18171	T	0.053	0.22462	T	10	0.17496333	0.32404	T	0.003151	0.06876	T	0.003	0.00094	0.377	0.39156	0.0551355673512	0.04727	0.12641937707937456	0.12567	0.00684574193027	0.00603	0.271658301353	0.06359	T	.	.	.	-0.318555	0.07017	T	-0.695358	0.06083	T	0.0580993480980396	0.06867	T	0.169883	0.01597	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.18372	B	.;.;.	.;.;.	0.052928	0.04660	1.312	0.95888013715457043	0.28095	0.00324	0.01698	N	AEFBI	0.017108	0.00427	N	-0.928802920198126	0.10172	0.4848603	-1.04168233912934	0.08880	0.4388902	0.0147972677657172	0.12639	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.29	-0.762	0.10478	-2.601000	0.00966	-12.537000	0.00518	-0.504000	0.05013	0.000000	0.06391	0.000000	0.08366	0.227000	0.22653	0.0:0.2829:0.231:0.486	3.184	0.06202	809	0.43032	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2243.98	42	chr11	63143643	.	C	G	2243.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.541e+00;DP=991;ExcessHet=0.0000;FS=1.239;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.77;ReadPosRankSum=-3.700e-02;SOR=0.595	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr11	63290238	63290238	C	T	exonic	SLC22A10	.	nonsynonymous SNV	SLC22A10:NM_001039752:exon1:c.C73T:p.L25F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.009	B	0.008	B	0.671	N	1.000	N	0.53	N	0.6	T	-1.033	T	0.070	T	0.175	-0.187	3.090	-3.69	-0.526	-5.774	4.736	0.027	0.00343814914755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.14546	T	0.498	0.11263	T	0.009	0.15093	B	0.008	0.13708	B	0.670784	0.10343	N	0.836159	1	0.08975	N	0.585	0.15399	N	0.6	0.53731	T	-1.06	0.27669	N	0.111	0.09772	-1.0334	0.19363	T	0.070	0.28609	T	10	0.042034864	0.02914	T	0.003438	0.07755	T	0.027	0.05988	0.359	0.36222	0.0884992946249	0.08302	0.34639545789419457	0.34553	0.0155235919736	0.01479	0.325473725796	0.14249	T	0.004242	0.03650	T	-0.264077	0.12426	T	-0.617105	0.11413	T	0.986176431179047	0.76962	D	0.288571	0.05217	T	0.03839796	0.05108	0.03959984	0.04088	0.03839796	0.05108	0.03959984	0.04088	-4.392	0.29448	T	.	.	0.098	0.16363	B	.	.	-1.318392	0.00423	0.008	0.40667526190809317	0.02885	0.00529	0.02453	N	AEFBCI	0.062766	0.12086	N	-1.57802451807214	0.01378	0.06005529	-1.67294110990565	0.01262	0.05688687	0.996999245436295	0.35182	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.89	-3.69	0.04162	-5.163000	0.00171	-20.000000	0.00162	-0.584000	0.04686	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1616:0.2773:0.0:0.561	4.736	0.12364	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1071	53.91	76	chr11	63290238	.	C	T	53.91	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-2.497e+00;DP=1925;ExcessHet=0.3300;FS=103.985;InbreedingCoeff=-0.1952;MLEAC=4;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=0.20;ReadPosRankSum=-1.610e-01;SOR=9.844	GT:AD:DP:GQ:PL	0/0:91,0:91:50:0,50,1716	11	0	3	7
chr11	63304197	63304197	C	A	exonic	SLC22A10	.	nonsynonymous SNV	SLC22A10:NM_001039752:exon8:c.C1375A:p.L459I,	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.997	D	0.934	D	0.000	U	0.593	N	2.885	M	-0.87	T	-0.265	T	0.320	T	0.292	1.096	9.473	3.05	1.747	3.783	9.858	0.187	0.00938774180779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.362e-06	1.375e-06	8.995e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.995e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.007	0.69154	D	0.997	0.70673	D	0.934	0.66904	D	0.000202	0.47681	U	0.086330	1	0.31007	N	3.06	0.86941	M	-0.87	0.74583	T	-1.67	0.39887	N	0.493	0.52651	-0.2649	0.75953	T	0.320	0.68882	T	10	0.8408878	0.83245	D	0.009388	0.24623	T	0.387	0.70358	0.745	0.87654	0.224531998449	0.22054	0.25533786640901246	0.25447	0.105735292603	0.11956	0.523734271526	0.42152	T	0.100075	0.40551	T	-0.0432903	0.45458	T	-0.29996	0.44728	T	0.886102676391602	0.53649	D	0.691131	0.30052	T	0.35061187	0.57115	0.2399684	0.49360	0.35061187	0.57115	0.2399684	0.49359	-5.794	0.44522	T	.	.	0.163	0.35910	B	.	.	2.330114	0.29851	18.25	0.79390030302325765	0.12720	0.53716	0.29439	D	AEFI	0.361238	0.45092	N	-0.168923267255855	0.34433	1.965275	-0.274315710401345	0.28948	1.617985	7.21841035634535E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.05	3.05	0.34272	2.027000	0.40699	1.551000	0.27293	-0.273000	0.06669	0.466000	0.26691	0.865000	0.27529	0.001000	0.02609	0.0:1.0:0.0:0.0	9.858	0.40267	794	0.45591	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1405.98	35	chr11	63304197	.	C	A	1405.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.000e-01;DP=831;ExcessHet=0.0000;FS=4.127;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.19;ReadPosRankSum=0.221;SOR=0.409	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1251	20	0	1	0
chr11	63510501	63510502	TG	-	exonic;splicing	LGALS12;LGALS12	.	frameshift deletion	LGALS12:NM_001142537:exon4:c.414delT:p.P139Lfs*4	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	0.00199681	0.0006	0.0054	0.0004	0	0	0.0001	0	0	0.0003074	8	26028	rs568294193	0.0003	0.0003	0.0003	0.0003	0.0055	0.0002	0.0002	0.0048	0.0046	0.0055	0.0005	0	0	0	0.0017	0.0001	0.0005	3.478e-05	0.0015	0.0015	0.0014	0.0015	0.0049	0.0013	0.0013	0.0043	0.0041	0.0049	0	0.0007	0	0	0	0	0.0001	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	973.94	34	chr11	63510500	.	ATG	A	973.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.790e-01;DP=749;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.23;ReadPosRankSum=-1.276e+00;SOR=0.616	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1208	20	0	1	0
chr11	63544767	63544767	G	A	exonic	PLAAT4	.	nonsynonymous SNV	PLAAT4:NM_004585:exon3:c.G265A:p.V89M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.997	D	0.911	D	0.491	N	1.000	N	2.325	M	1.93	T	-0.956	T	0.128	T	0.094	2.169	13.21	-1.52	-0.245	-0.398	6.823	0.076	0.00257810523988	8.1e-05	.	0.0001	0	8.639e-05	0	0	0.0002	0	6.056e-05	0.0001035	16	154602	rs374650684	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	2.236e-05	0	2.519e-05	0	0	0.0003	0.0001	2.319e-05	4.599e-05	4.597e-05	6.423e-05	2.689e-05	7.349e-05	2.109e-05	1.527e-05	2.846e-05	1.858e-05	4.824e-05	0	0	0	0	0	0	7.349e-05	0	0	0.02	0.49613	D	0.219	0.49120	T	0.997	0.70673	D	0.911	0.64720	D	0.490804	0.05035	N	1.335590	1	0.08975	N	2.555	0.74557	M	1.93	0.22881	T	-1.66	0.41239	N	0.063	0.24135	-0.9555	0.40006	T	0.128	0.43503	T	10	0.119201005	0.22553	T	0.002578	0.05206	T	0.076	0.22200	.	.	0.12205267543	0.11705	0.366874803917683	0.36601	0.621815741039	0.56462	0.297786176205	0.10072	T	0.080508	0.36379	T	-0.474653	0.00795	T	-0.650283	0.08934	T	0.105553224682808	0.12957	T	0.219378	0.16166	T	0.04798367	0.08291	0.065290086	0.13212	0.04798367	0.08291	0.065290086	0.13212	-6.644	0.54179	T	.	.	0.180	0.39203	B	.;.;.	.;.;.	0.755616	0.11254	7.882	0.99427341613417186	0.64081	0.03612	0.08845	N	AEFDGBI	0.196812	0.32377	N	-0.506191687243517	0.21879	1.164366	-0.786015236952775	0.14838	0.7773837	0.0264716350308232	0.13714	0.626454	0.40138	0	0.80507	0.99744	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	4.29	-1.52	0.08181	-0.459000	0.06805	-2.768000	0.03381	-0.127000	0.13314	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1807:0.3935:0.4258:0.0	6.823	0.23052	515	0.74782	.;LRAT-like domain;LRAT-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	926.98	34	chr11	63544767	.	G	A	926.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.166e+00;DP=802;ExcessHet=0.0000;FS=0.768;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.08;ReadPosRankSum=0.571;SOR=0.784	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1147	20	0	1	0
chr11	63718745	63718745	T	G	exonic	RTN3	.	nonsynonymous SNV	RTN3:NM_201428:exon2:c.T186G:p.I62M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.904	P	0.772	P	0.808	N	1.000	D	0.805	L	1.76	T	-0.913	T	0.061	T	0.288	2.312	13.69	-1.54	-0.165	-0.179	1.438	0.136	0.0222389951791	.	.	1.853e-05	0	0	0	0	1.702e-05	0	7.044e-05	1.29e-05	2	154602	rs763731605	2.759e-06	2.736e-06	2.743e-06	2.776e-06	2.412e-05	6.5e-07	4.4e-07	4e-06	1.5e-06	0	0	0	0	0	0	9.018e-07	1.672e-05	2.412e-05	1.314e-05	1.313e-05	0	2.689e-05	0.0004	2.18e-06	8.2e-07	7.276e-05	3.024e-05	0	0	0	0	0	0	0	0	0	0.0004	0.001	0.78490	D	0.055	0.76473	T	0.845	0.49848	P	0.596	0.56930	P	0.808318	0.06811	N	1.106060	0.999999	0.58761	D	0.975	0.24501	L	1.7	0.26885	T	-0.67	0.19297	N	0.24	0.34228	-0.9127	0.46518	T	0.061	0.25528	T	10	0.080961674	0.13201	T	0.022239	0.45108	T	0.136	0.36778	0.097	0.01334	0.185906805712	0.18197	0.08517926017210543	0.08451	0.232443460949	0.25788	0.493947178125	0.37987	T	0.024634	0.18578	T	-0.189184	0.22377	T	-0.509526	0.21363	T	0.304554067904996	0.25191	T	0.565243	0.19970	T	0.15864563	0.35681	0.09660017	0.22959	0.15864563	0.35681	0.09660017	0.22958	-3.886	0.22092	T	.	.	0.074	0.14706	B	.;.	.;.	1.500767	0.19296	14.19	0.98978208115325339	0.49680	0.15555	0.18969	N	AEFBI	0.075810	0.15235	N	-0.466761428230046	0.23175	1.242708	-0.542714947882255	0.20999	1.133963	0.0950458989012935	0.16218	0.562547	0.31514	0	0.546412	0.12157	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.7	-1.54	0.08130	-0.184000	0.09693	0.288000	0.16841	-0.263000	0.06870	0.233000	0.24675	0.420000	0.24802	0.784000	0.37066	0.1368:0.2628:0.1404:0.46	1.438	0.02207	547	0.72440	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	957.98	87	chr11	63718745	.	T	G	957.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.579e+00;DP=779;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.01;ReadPosRankSum=1.13;SOR=0.685	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1072	20	0	1	0
chr11	63764320	63764320	G	A	exonic	C11orf95	.	nonsynonymous SNV	C11orf95:NM_001144936:exon4:c.C1303T:p.R435C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1477857713	5.688e-06	5.199e-05	3.188e-06	8.288e-06	0.0003	2.37e-06	1.52e-06	9.3e-07	6.3e-07	0	0	0	0	0	0.0003	3.978e-06	4.016e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.64786	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	.	.	.	2.215	0.62545	M	.	.	.	.	.	.	0.38	0.42149	.	.	.	.	.	.	.	0.3972689	0.55316	T	.	.	.	.	.	.	.	0.378322506985	0.37446	0.4548146607424411	0.45399	.	.	.	.	.	0.13145	0.46095	T	0.364855	0.87618	D	0.286312	0.87458	D	.	.	.	0.873313	0.58144	D	0.30445883	0.53302	0.3504326	0.60653	0.30445883	0.53302	0.3504326	0.60652	-7.653	0.58680	D	.	.	0.210	0.43721	B	.	.	5.525453	0.91821	32	0.97879679298808198	0.36594	0.87195	0.46661	D	AEFDBCIJ	.	.	.	.	.	.	.	.	.	0.999999999994263	0.74766	0.075627	0.01787	0	0.097471	0.02872	0	0.04985	0.00251	1	0.089868	0.02511	0	0.968886	0.71240	4.25	4.25	0.49658	8.920000	0.92358	8.475000	0.77283	0.582000	0.30178	0.998000	0.41325	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	14.518	0.67418	561	0.71236	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	703.98	18	chr11	63764320	.	G	A	703.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.159e+00;DP=603;ExcessHet=0.0000;FS=1.145;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.37;ReadPosRankSum=-5.650e-01;SOR=1.017	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,797	20	0	1	0
chr11	63765837	63765837	C	T	exonic	C11orf95	.	nonsynonymous SNV	C11orf95:NM_001144936:exon2:c.G607A:p.G203S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.49e-06	1.984e-05	2.918e-06	0	1.435e-05	2.5e-07	9e-08	.	.	0	0	0	0	0	0	0	1.79e-05	1.435e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.32675	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	.	.	.	-0.69	0.01958	N	.	.	.	.	.	.	0.088	0.06587	.	.	.	.	.	.	.	0.043070644	0.03119	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.17983362552255222	0.17902	.	.	.	.	.	0.008744	0.08010	T	-0.264244	0.12407	T	-0.617345	0.11395	T	.	.	.	0.578742	0.20864	T	0.03402783	0.03740	0.09061341	0.21259	0.03402783	0.03740	0.09061341	0.21258	-5.027	0.37132	T	.	.	0.058	0.00647	B	.	.	-0.070240	0.03821	0.815	0.66538621673332365	0.08088	0.01517	0.05008	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.998002453845092	0.36301	0.156188	0.03335	0	0.108256	0.03340	2	0.076361	0.02342	2	0.221052	0.04502	0	0.142776	0.26883	4.58	-1.04	0.09555	-0.239000	0.08983	-0.204000	0.10916	-0.278000	0.06506	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.5771:0.0:0.4229	8.047	0.29717	561	0.71236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	36.98	34	chr11	63765837	.	C	T	36.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.322e+00;DP=721;ExcessHet=0.0000;FS=3.736;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.84;ReadPosRankSum=1.49;SOR=0.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1102	20	0	1	0
chr11	63765845	63765845	T	C	exonic	C11orf95	.	nonsynonymous SNV	C11orf95:NM_001144936:exon2:c.A599G:p.E200G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1410661200	6.067e-06	7.569e-05	2.967e-06	9.31e-06	5.766e-06	2.61e-06	1.89e-06	2.07e-06	1.36e-06	0	0	0	0	2.456e-05	0	5.766e-06	1.828e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.61642	D	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.213	0.23758	.	.	.	.	.	.	.	0.049518704	0.04552	T	.	.	.	.	.	.	.	0.117506650769	0.11410	0.3624302438577537	0.36157	.	.	.	.	.	0.025406	0.19004	T	-0.0653304	0.42072	T	-0.331619	0.41290	T	.	.	.	0.537446	0.18074	T	0.141736	0.32647	0.27861717	0.53824	0.141736	0.32647	0.27861717	0.53823	-4.571	0.31805	T	.	.	0.089	0.12181	B	.	.	2.945737	0.39182	20.9	0.65179202644400647	0.07700	0.16136	0.19248	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.995044692152635	0.33924	0.156188	0.03335	0	0.108256	0.03340	2	0.076361	0.02342	2	0.221052	0.04502	0	0.131079	0.25843	4.58	2.25	0.27340	1.035000	0.29824	4.105000	0.41886	0.580000	0.29708	0.013000	0.18845	1.000000	0.68203	0.046000	0.14843	0.0:0.1968:0.0:0.8032	6.942	0.23675	561	0.71236	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	36.98	34	chr11	63765845	.	T	C	36.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.569e+00;DP=721;ExcessHet=0.0000;FS=3.736;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.84;ReadPosRankSum=1.29;SOR=0.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1102	20	0	1	0
chr11	63768508	63768508	C	T	exonic	C11orf95	.	nonsynonymous SNV	C11orf95:NM_001144936:exon1:c.G115A:p.A39T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs988744598	2.837e-05	4.788e-05	2.407e-05	3.285e-05	3.91e-05	2.012e-05	1.746e-05	2.178e-05	1.875e-05	0	0	0	0	0	0	3.141e-05	0	3.91e-05	2.029e-05	2.635e-05	3.957e-05	0	4.531e-05	5.4e-06	2.5e-06	1.203e-05	6.34e-06	0	0	0	0	0	0	0	4.531e-05	0	0	.	.	.	0.871	0.07342	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.097	0.07811	.	.	.	.	.	.	.	0.050802857	0.04867	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.16555061153996714	0.16475	.	.	.	.	.	0.012516	0.10987	T	-0.245977	0.14596	T	-0.591106	0.13569	T	.	.	.	0.471453	0.13989	T	0.024703583	0.01329	0.09652446	0.22937	0.024703583	0.01329	0.09652446	0.22937	-4.867	0.35362	T	.	.	0.079	0.07460	B	.;.	.;.	1.272071	0.16708	12.71	0.90120932142696286	0.19402	0.00387	0.01950	N	ALL	.	.	.	.	.	.	.	.	.	0.999999998894538	0.74766	0.075627	0.01787	0	0.043486	0.00082	2	0.04985	0.00251	1	0.127398	0.03941	1	0.164449	0.28456	1.72	-3.43	0.04507	-1.249000	0.02998	0.426000	0.18273	0.393000	0.20503	0.000000	0.06391	0.997000	0.33255	0.245000	0.23132	0.4164:0.2565:0.0:0.3271	2.261	0.03818	561	0.71236	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	355.98	36	chr11	63768508	.	C	T	355.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=675;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.13;ReadPosRankSum=0.478;SOR=0.793	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,982	20	0	1	0
chr11	63902699	63902699	C	T	exonic	MARK2	.	nonsynonymous SNV	MARK2:NM_001039469:exon13:c.C1333T:p.R445W	.	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.993	D	0.080	N	0.998	D	2.47	M	1.41	T	0.056	D	0.517	D	0.53	1.041	9.253	3.86	1.225	3.109	11.788	0.235	0.58210167637	.	.	8.281e-06	0	0	0	0	0	0	6.068e-05	6.5e-06	1	154602	rs771721301	1.231e-05	1.3e-05	1.497e-05	9.626e-06	0.0003	7.7e-06	6.35e-06	6.111e-05	2.528e-05	2.987e-05	0	0	0	0	0.0003	9.892e-06	1.656e-05	3.478e-05	1.972e-05	1.97e-05	1.285e-05	2.691e-05	4.826e-05	5.24e-06	2.45e-06	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.003	0.83351	D	0.955	0.90584	P	0.821	0.81110	P	0.079705	0.20968	N	0.476592	0.998257	0.44686	D	2.625	0.76847	M	-0.72	0.72994	T	-3.65	0.83157	D	0.329	0.37613	0.056	0.83358	D	0.517	0.81932	D	10	0.37592006	0.53830	T	0.582102	0.96259	D	0.235	0.53788	0.276	0.22845	0.70608209329	0.70352	0.4325383737449389	0.43170	1.58952772393	0.88501	0.693645119667	0.66230	T	0.682871	0.90705	D	0.00644191	0.52540	T	-0.131669	0.60832	T	0.82231193780899	0.47945	D	0.989623	0.96588	D	0.1741119	0.38197	0.21548826	0.46140	0.1741119	0.38197	0.21548826	0.46139	-7.407	0.58164	T	.	.	0.294	0.56799	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.225711	0.87713	29.3	0.99056202673763716	0.51367	0.95279	0.64106	D	AEFGBI	0.529304	0.55047	D	0.16517154261819	0.49533	3.152573	0.0949305360846327	0.44294	2.713892	0.549978400919878	0.21325	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.79	3.86	0.43689	4.014000	0.56857	3.270000	0.37153	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.220000	0.22462	0.3178:0.6822:0.0:0.0	11.788	0.51324	404	0.82510	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1394.98	37	chr11	63902699	.	C	T	1394.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=854;ExcessHet=0.0000;FS=1.462;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=-1.100e-02;SOR=0.867	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1374	20	0	1	0
chr11	64000281	64000281	T	C	exonic	MACROD1	.	nonsynonymous SNV	MACROD1:NM_014067:exon5:c.A610G:p.S204G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.325	U	1.000	N	-3.005	N	2.05	T	-0.958	T	0.006	T	0.086	0.105	4.563	2.67	0.614	1.163	3.977	0.102	0.0337110212741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.325434	0.14201	U	0.600535	0.99722	0.81001	N	-2.225	0.00116	N	2.05	0.20664	T	4.38	0.00040	N	0.118	0.10769	-0.9583	0.39497	T	0.006	0.02131	T	10	0.019934714	0.00452	T	0.033711	0.55171	D	0.102	0.29158	0.35	0.34760	0.0401082797425	0.02173	0.2711121457136292	0.27024	0.234622177888	0.26005	0.545179247856	0.45177	T	0.029991	0.21364	T	-0.304989	0.08197	T	-0.675872	0.07237	T	0.0703713595867157	0.08703	T	0.957704	0.84069	D	0.19299333	0.40990	0.088470854	0.20630	0.19299333	0.40990	0.088470854	0.20629	1.542	0.00079	T	.	.	0.074	0.04889	B	.	.	2.141140	0.27267	17.40	0.81274957222145294	0.13605	0.17710	0.19954	N	AEFDBHCIJ	0.141030	0.26309	N	-1.1513629843685	0.05757	0.2633108	-0.887482447845984	0.12390	0.6370458	0.999999970070332	0.74766	0.789315	0.99827	0	0.779548	0.99637	0	0.768056	0.98339	0	0.554799	0.18163	0	.	.	3.85	2.67	0.30756	0.851000	0.27403	4.789000	0.44887	0.580000	0.29708	0.098000	0.22752	1.000000	0.68203	0.954000	0.50415	0.0:0.1137:0.218:0.6683	3.977	0.08971	371	0.84287	Macro domain|Macro domain|Macro domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	309.98	32	chr11	64000281	.	T	C	309.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.995e+00;DP=773;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.54;ReadPosRankSum=0.070;SOR=0.597	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1082	20	0	1	0
chr11	64117928	64117928	C	T	exonic	FLRT1	.	nonsynonymous SNV	FLRT1:NM_001384466:exon3:c.C1661T:p.A554V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.998	D	0.000	D	1.000	D	2.085	M	-0.11	T	-0.240	T	0.421	T	0.694	3.915	19.91	5.17	2.584	7.813	17.827	0.258	0.0817704843658	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs142645704	3.284e-05	3.283e-05	3.676e-05	2.888e-05	4.047e-05	2.544e-05	2.249e-05	3.085e-05	2.753e-05	0	0	0	2.519e-05	0	0	4.047e-05	1.656e-05	1.16e-05	1.314e-05	1.313e-05	2.568e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.1	0.30515	T	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.11	0.64445	T	-1.79	0.42191	N	0.686	0.69213	-0.2402	0.76621	T	0.421	0.76637	T	10	0.6749946	0.70937	D	0.08177	0.73755	D	0.258	0.56959	.	.	0.352477664867	0.34857	0.6641113869571723	0.66348	0.992740038689	0.74138	0.646227836609	0.59449	T	.	.	.	0.108924	0.65240	D	-0.081315	0.64808	T	0.942724645137787	0.61719	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.52873	B	.	.	4.484525	0.69992	25.5	0.999258425067588	0.99042	0.99574	0.97595	D	AEFBI	0.928342	0.91241	D	0.748901216520327	0.82833	7.861442	0.706170295889619	0.82848	7.869772	0.999999999999993	0.74766	0.62174	0.39705	0	0.547309	0.14657	0	0.491614	0.08109	1	0.567892	0.33627	0	.	.	5.17	5.17	0.70848	6.167000	0.71757	4.923000	0.46060	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.163000	0.20749	0.0:1.0:0.0:0.0	17.827	0.88579	453	0.79178	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1778.98	115	chr11	64117928	.	C	T	1778.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.52;DP=1857;ExcessHet=0.0000;FS=1.239;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.91;ReadPosRankSum=0.830;SOR=0.802	GT:AD:DP:GQ:PL	0/0:140,0:140:99:0,120,1800	20	0	1	0
chr11	64118066	64118066	A	G	exonic	FLRT1	.	nonsynonymous SNV	FLRT1:NM_001384466:exon3:c.A1799G:p.Y600C	.	.	429	1084	9	0	0	9	0.00413413	.	.	1100154	Peripheral_neuropathy	Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.045	M	-0.61	T	0.058	D	0.500	T	0.806	2.701	14.99	5.17	2.090	9.339	14.310	0.650	0.186029558778	0.0002	0.00119808	0.0006	0	0	0.0001	0	0.0001	0.0011	0.0041	0.0005692	88	154602	rs368223580	0.0003	0.0003	0.0002	0.0004	0.0041	0.0003	0.0003	0.0037	0.0036	5.976e-05	8.95e-05	0	2.521e-05	0	0.0024	4.499e-05	0.0004	0.0041	0.0002	0.0002	7.708e-05	0.0004	0.0056	0.0002	0.0001	0.0039	0.0034	0	0	0.0003	0	0	0	0	4.41e-05	0.0005	0.0056	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000001	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.61	0.71779	T	-3.55	0.68764	D	0.89	0.88909	0.058	0.83390	D	0.500	0.81096	T	10	0.04564342	0.03660	T	0.18603	0.85849	D	0.650	0.86786	.	.	0.424235652224	0.42042	0.5862054776603112	0.58550	1.11945053067	0.78259	0.743771076202	0.73528	T	.	.	.	-0.0881733	0.38378	T	0.0997304	0.76890	D	0.0887042379611157	0.11062	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.502	0.64690	A	.	.	4.777851	0.77414	26.7	0.99670202980641043	0.78523	0.98966	0.89286	D	AEFBI	0.935498	0.93044	D	0.704146351455689	0.79905	7.177448	0.643064916505945	0.78095	6.807845	0.999999999899177	0.74766	0.62174	0.39705	0	0.588066	0.40923	0	0.491614	0.08109	1	0.567892	0.33627	0	.	.	5.17	5.17	0.70848	9.325000	0.96006	11.266000	0.91241	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.700000	0.34141	1.0:0.0:0.0:0.0	14.310	0.65963	453	0.79178	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2305.98	115	chr11	64118066	.	A	G	2305.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.46;DP=1928;ExcessHet=0.0000;FS=1.169;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=0.113;SOR=0.778	GT:AD:DP:GQ:PL	0/0:140,0:140:99:0,120,1800	20	0	1	0
chr11	64165918	64165918	G	A	exonic	MACROD1	.	nonsynonymous SNV	MACROD1:NM_014067:exon1:c.C77T:p.P26L,	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.895	P	0.354	B	0.050	N	0.953	D	1.1	L	1.79	T	-1.064	T	0.048	T	0.182	2.875	15.58	2.96	1.955	1.361	9.628	0.035	.	.	0.000998403	0.0039	0	0	0	.	0.0227	0	0	0.0005369	83	154602	rs528917108	0.0049	0.0043	0.0050	0.0048	0.0055	0.0048	0.0048	0.0054	0.0053	0.0006	0.0018	0.0087	0	0.0009	0.0018	0.0055	0.0044	0.0001	0.0042	0.0042	0.0043	0.0040	0.0058	0.0039	0.0038	0.0053	0.0052	0.0009	0.1140	0.0037	0.0089	0	0.0004	0	0.0058	0.0028	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.895	0.49247	P	0.354	0.42942	B	0.050119	0.23101	N	0.331528	0.952821	0.37802	D	1.935	0.51832	L	1.79	0.25509	T	-0.47	0.15178	N	0.157	0.16308	-1.0636	0.10878	T	0.048	0.20355	T	10	0.003353238	0.00058	T	.	.	.	0.035	0.08770	.	.	0.321951552304	0.31805	0.3501266508268556	0.34926	1.80344454762	0.91689	0.728520035744	0.71291	T	0.052799	0.29262	T	-0.52153	0.00431	T	-0.51153	0.21159	T	0.0912696012676683	0.11368	T	0.589541	0.21661	T	0.088253215	0.20580	0.15538926	0.36427	0.088253215	0.20580	0.15538926	0.36426	-4.065	0.24772	T	.	.	0.098	0.16143	B	.	.	3.305613	0.45399	22.1	0.9977771662788093	0.86519	0.32731	0.24657	N	ALL	0.060762	0.11569	N	-0.218739174308175	0.32365	1.824478	-0.309943375990947	0.27777	1.543724	0.999999999999849	0.74766	0.766844	0.99359	0	0.484254	0.07192	0	0.851219	0.99655	0	0.71	0.69187	0	.	.	2.96	2.96	0.33383	1.078000	0.30365	4.132000	0.42036	-0.346000	0.05637	0.750000	0.29133	1.000000	0.68203	0.002000	0.04165	0.0:0.0:1.0:0.0	9.628	0.38925	553	0.71930	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	415.98	38	chr11	64165918	.	G	A	415.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.843;DP=723;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.82;ReadPosRankSum=-4.690e-01;SOR=0.563	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1150	20	0	1	0
chr11	64234111	64234111	T	C	exonic	DNAJC4	.	stoploss	DNAJC4:NM_001307980:exon5:c.T748C:p.X250Q	.	.	408	1113	1	0	0	1	0.000449035	.	.	2431689	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	0.002	B	0.001	B	0.002	N	1.000	N	0	N	1.84	T	-1.004	T	0.035	T	0.384	0.803	8.225	-2.2	-0.232	-0.053	4.611	0.035	.	0.0002	.	0.0002	0	0.0002	0	0	0.0003	0	0	0.0001294	20	154602	rs367822015	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0	4.602e-05	0	0	0	0.0003	0.0002	0.0001	1.167e-05	0.0006	0.0006	0.0006	0.0006	0.0003	0.0005	0.0005	0.0002	0.0002	0	0.0746	0	0	0	0	0	0.0003	0.0005	0	0.101	0.30375	T	0.113	0.36901	T	0.002	0.09854	B	0.001	0.04355	B	0.001697	0.00815	N	4.100190	1	0.08975	N	.	.	.	1.84	0.24656	T	-1.13	0.29114	N	0.146	0.14763	-1.0039	0.28785	T	0.035	0.15074	T	10	0.0034494996	0.00061	T	.	.	.	0.035	0.08770	.	.	0.307648195649	0.30373	.	.	0.232989355032	0.25837	0.344902038574	0.17168	T	0.026172	0.19424	T	-0.435304	0.01378	T	-0.544987	0.17810	T	0.0226267953282235	0.00979	T	0.264174	0.04286	T	0.26246879	0.49308	0.105842285	0.25452	0.26246879	0.49308	0.105842285	0.25452	-3.765	0.20282	T	.	.	0.054	0.00321	B	.	.	0.583559	0.09523	6.297	0.43768500704357416	0.03318	0.04212	0.09725	N	AEFDGBCI	0.134862	0.25501	N	-1.03145742176233	0.07956	0.3714022	-1.1421856006169	0.06909	0.3341863	0.999999832046234	0.74766	0.789315	0.99827	0	0.685571	0.66316	0	0.768056	0.98339	0	0.604282	0.37693	0	.	.	4.86	-2.2	0.06601	-0.205000	0.09413	-0.140000	0.11527	-0.150000	0.12128	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.3736:0.0:0.4509:0.1754	4.611	0.11793	658	0.62094	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1579.98	33	chr11	64234111	.	T	C	1579.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.447;DP=806;ExcessHet=0.0000;FS=0.763;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.50;ReadPosRankSum=-1.820e-01;SOR=0.570	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1460	20	0	1	0
chr11	64245236	64245236	C	T	exonic	PPP1R14B	.	nonsynonymous SNV	PPP1R14B:NM_138689:exon2:c.G310A:p.E104K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.945	P	0.685	P	0.001	U	0.999	D	1.665	L	.	.	-0.608	T	0.250	T	0.324	4.277	22.3	4.05	1.983	2.799	15.406	0.117	0.0271444068011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	1.362e-06	2.751e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.183	0.39190	T	0.945	0.53279	P	0.685	0.53610	P	0.001453	0.38980	U	0.155185	0.997018	0.45197	D	1.39	0.34934	L	.	.	.	-2.62	0.56301	D	0.238	0.26837	-0.6083	0.64474	T	0.250	0.61981	T	9	0.25050563	0.42377	T	0.027144	0.49992	D	0.117	0.32689	0.442	0.49811	0.117191471859	0.11215	0.5865405820129413	0.58584	1.34411219768	0.83927	0.845274806023	0.88899	D	0.197596	0.55432	T	-0.0508633	0.44316	T	-0.310838	0.43569	T	0.95896577835083	0.65409	D	0.79692	0.85901	T	0.38192523	0.59455	0.34717983	0.60376	0.38192523	0.59455	0.34717983	0.60375	-4.282	0.27924	T	.	.	0.271	0.69419	B	.;.;.	.;.;.	4.579191	0.72322	25.8	0.99917958577561727	0.98518	0.89658	0.50264	D	AEFDGBHCI	0.701241	0.65799	D	0.357118507377877	0.59115	4.088479	0.341235548869145	0.57981	3.966233	0.999999999902522	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	4.05	4.05	0.46415	2.921000	0.48549	7.681000	0.65292	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	15.406	0.74604	658	0.62094	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1485.98	56	chr11	64245236	.	C	T	1485.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.53;DP=1142;ExcessHet=0.0000;FS=5.749;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=-3.370e-01;SOR=1.262	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	20	0	1	0
chr11	64293202	64293202	A	T	exonic	KCNK4	.	nonsynonymous SNV	KCNK4:NM_001317090:exon2:c.A184T:p.I62F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.228	B	0.146	B	0.027	N	1.000	D	1.845	L	2.33	T	-1.093	T	0.042	T	0.402	4.016	20.6	2.0	0.733	2.935	7.302	0.114	0.0100140740175	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	.	1.526e-06	5.472e-06	1.485e-06	1.569e-06	0.0002	2.5e-07	1e-07	.	.	0	0	0	3.043e-05	0	0.0002	0	0	0	6.572e-06	1.313e-05	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.72154	D	0.04	0.50809	D	0.228	0.30509	B	0.146	0.33945	B	0.027447	0.25754	N	0.365849	0.999989	0.81001	D	2.635	0.77114	M	2.33	0.16492	T	-3.3	0.65858	D	0.501	0.53357	-1.0933	0.05005	T	0.042	0.17910	T	10	0.3196727	0.49351	T	0.010014	0.26035	T	0.114	0.32008	0.613	0.74652	0.515603885326	0.51203	0.8260737075891041	0.82565	0.413070297786	0.42027	0.516415297985	0.41121	T	0.261883	0.63340	T	-0.122434	0.32728	T	-0.413644	0.31806	T	0.927231967449188	0.58997	D	0.731927	0.34732	T	0.4832334	0.66096	0.48480293	0.70178	0.4832334	0.66097	0.48480293	0.70178	-8.297	0.63075	D	.	.	0.299	0.52897	B	.;.;.	.;.;.	3.505163	0.49059	22.7	0.98711869559392995	0.45069	0.93614	0.58701	D	AEFGBCI	0.521006	0.54562	D	-0.122734121146155	0.36404	2.103759	-0.0641605564813299	0.36883	2.152272	0.999966498608732	0.48965	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	4.4	2.0	0.25495	1.163000	0.31408	5.740000	0.49568	0.756000	0.94297	0.988000	0.36536	1.000000	0.68203	0.981000	0.58702	0.8041:0.0:0.1959:0.0	7.302	0.25600	652	0.62785	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	566.98	61	chr11	64293202	.	A	T	566.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=778;ExcessHet=0.0000;FS=2.243;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.29;ReadPosRankSum=0.328;SOR=0.542	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1184	20	0	1	0
chr11	64307271	64307271	C	T	exonic	ESRRA	.	nonsynonymous SNV	ESRRA:NM_001282450:exon2:c.C92T:p.T31I	.	.	406	1112	4	0	0	4	0.00179533	.	.	712992	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.23	T	0.465	P	0.014	B	0.008	N	0.999	N	0	N	-2.85	D	-0.259	T	0.501	D	0.256	0.571	7.085	4.3	2.399	1.314	12.470	0.233	0.0674654032388	0.0046	0.00359425	0.0033	0.0096	0.0043	0.0001	0.0002	0.0036	0.0011	0.0007	0.0034605	535	154602	rs117285599	0.0034	0.0034	0.0035	0.0033	0.0083	0.0033	0.0033	0.0075	0.0072	0.0083	0.0047	0.0039	2.519e-05	0.0006	0.0079	0.0036	0.0047	0.0010	0.0047	0.0047	0.0048	0.0046	0.0088	0.0044	0.0043	0.0080	0.0077	0.0088	0	0.0067	0.0032	0	0.0003	0.0136	0.0031	0.0095	0.0002	0.392	0.10802	T	0.194	0.28669	T	0.0	0.36447	B	0.0	0.16862	B	0.007991	0.31082	N	0.340567	0.999305	0.21385	N	0.345	0.11182	N	-2.85	0.95352	D	-0.75	0.31778	N	0.357	0.39861	-0.2594	0.76104	T	0.501	0.81149	D	10	0.004929304	0.00106	T	0.067465	0.70173	D	0.233	0.53499	.	.	0.715926139253	0.71343	0.24652187048215393	0.24566	0.674172896119	0.59628	0.615705370903	0.55121	T	0.105429	0.41588	T	-0.281891	0.10467	T	-0.171437	0.57311	T	0.00545724112597076	0.00059	T	0.786121	0.42437	T	0.10203361	0.24106	0.06268524	0.12302	0.10203361	0.24106	0.06268524	0.12301	-5.818	0.44818	T	.	.	0.149	0.32922	B	.;.;.;.	.;.;.;.	2.372734	0.30450	18.44	0.94867085906681881	0.25685	0.75970	0.37226	D	AEFGBCI	0.157037	0.28249	N	-0.363558059168466	0.26777	1.463996	-0.22132315680875	0.30773	1.735567	0.999998842783608	0.74766	0.643511	0.44296	0	0.672317	0.65289	0	0.685571	0.62057	0	0.631631	0.49550	0	.	.	4.3	4.3	0.50540	0.886000	0.27878	5.917000	0.51107	0.599000	0.40250	0.006000	0.17386	0.999000	0.35428	0.340000	0.25432	0.0:1.0:0.0:0.0	12.470	0.55118	649	0.63102	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	657.98	34	chr11	64307271	.	C	T	657.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.400e-01;DP=747;ExcessHet=0.0000;FS=3.788;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=-7.360e-01;SOR=0.339	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1052	20	0	1	0
chr11	64344322	64344322	G	A	exonic	CCDC88B	.	nonsynonymous SNV	CCDC88B:NM_032251:exon14:c.G1781A:p.R594H,	.	.	426	1012	80	4	0	88	0.0416667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-0.695	N	1.97	T	-1.056	T	0.008	T	0.07	-1.404	0.023	-7.57	-4.427	-2.233	1.682	0.007	.	0.0072	0.00798722	0.0107	0.0015	0.0025	0.0002	0.0059	0.0092	0.0213	0.0359	0.0101422	1568	154602	rs74511597	0.0100	0.0100	0.0089	0.0111	0.0371	0.0099	0.0098	0.0361	0.0356	0.0010	0.0030	0.0038	0.0002	0.0082	0.0172	0.0090	0.0095	0.0371	0.0072	0.0072	0.0067	0.0077	0.0329	0.0068	0.0067	0.0288	0.0272	0.0013	0.0252	0.0039	0.0040	0.0004	0.0056	0.0068	0.0104	0.0066	0.0329	0.698	0.04200	T	0.737	0.05036	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.97	0.22067	T	2.59	0.00213	N	0.005	0.00034	-1.0565	0.12646	T	0.008	0.02884	T	9	0.0019658506	0.00027	T	.	.	.	0.007	0.00512	.	.	.	.	0.18676610198172622	0.18594	0.318130370587	0.34044	0.253022998571	0.04093	T	0.00132	0.00800	T	-0.713434	0.00030	T	-0.771813	0.02709	T	0.000664777419222277	0.00006	T	0.210879	0.02555	T	0.014778137	0.00107	0.023305833	0.00345	0.014778137	0.00107	0.023305833	0.00344	-3.914	0.22512	T	.	.	0.059	0.00820	B	.	.	-1.216232	0.00515	0.012	0.26890395915027226	0.01309	0.00549	0.02518	N	AEFDGBI	0.024649	0.01560	N	-2.41341640516398	0.00025	0.001092386	-2.46920267428745	0.00027	0.001200507	0.999999999998934	0.74766	0.712529	0.81865	0	0.635938	0.57008	0	0.779548	0.98927	0	0.638833	0.57524	0	.	.	3.78	-7.57	0.01176	-1.719000	0.01973	-3.423000	0.02798	-1.923000	0.00505	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2231:0.3559:0.2338:0.1872	1.682	0.02662	596	0.68392	.	.	.	.	.	rs74511597	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	785.98	39	chr11	64344322	.	G	A	785.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.234e+00;DP=841;ExcessHet=0.0000;FS=2.156;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.10;ReadPosRankSum=-2.275e+00;SOR=0.446	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1164	20	0	1	0
chr11	64352209	64352209	C	T	exonic	CCDC88B	.	nonsynonymous SNV	CCDC88B:NM_032251:exon19:c.C3179T:p.A1060V,	.	.	417	1026	75	4	0	83	0.0388759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.998	D	0.957	D	.	.	0.993	D	1.21	L	1.79	T	-0.935	T	0.145	T	0.544	0.053	4.292	4.87	2.251	2.127	13.511	0.138	.	0.0069	0.00798722	0.0113	0.0017	0.0027	0.0001	0.0031	0.0093	0.0241	0.0396	0.009366	1448	154602	rs148331635	0.0095	0.0095	0.0085	0.0106	0.0373	0.0094	0.0093	0.0362	0.0357	0.0011	0.0029	0.0024	7.638e-05	0.0028	0.0172	0.0087	0.0090	0.0373	0.0062	0.0062	0.0059	0.0065	0.0328	0.0059	0.0058	0.0286	0.0270	0.0013	0.0253	0.0039	0.0026	0.0002	0.0014	0.0068	0.0089	0.0066	0.0328	1.0	0.00964	T	0.235	0.44501	T	0.99	0.63424	D	0.824	0.59271	P	.	.	.	.	0.992665	0.41708	D	1.67	0.42885	L	1.79	0.48142	T	-1.27	0.31981	N	0.425	0.46462	-0.9354	0.43333	T	0.145	0.46805	T	9	0.0042512417	0.00085	T	.	.	.	0.138	0.37187	.	.	0.383921772103	0.37999	0.14051853398084002	0.13974	0.908464596018	0.70945	0.590660095215	0.51587	T	0.001801	0.01223	T	-0.45454	0.01062	T	-0.399232	0.33472	T	0.0128007701019311	0.00218	T	0.827517	0.49142	T	0.09841398	0.23212	0.08995448	0.21065	0.09841398	0.23211	0.08995448	0.21065	-5.196	0.38901	T	.	.	0.203	0.42806	B	.;.	.;.	3.373430	0.46632	22.3	0.93095668118017671	0.22722	0.36718	0.25598	N	AEFDGBCI	0.187824	0.31511	N	-0.0743069484477291	0.38522	2.257493	-0.193573536744565	0.31772	1.801206	0.999998714846914	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.87	4.87	0.62877	0.279000	0.18532	5.827000	0.50131	0.519000	0.23678	0.002000	0.15269	1.000000	0.68203	0.001000	0.02609	0.0:1.0:0.0:0.0	13.511	0.60969	461	0.78683	.;.	.	.	.	.	rs148331635	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	763.98	33	chr11	64352209	.	C	T	763.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.050e-01;DP=763;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=0.303;SOR=0.722	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1064	20	0	1	0
chr11	64355623	64355623	G	A	exonic	CCDC88B	.	nonsynonymous SNV	CCDC88B:NM_032251:exon26:c.G4370A:p.R1457Q,	.	.	428	1068	25	1	0	27	0.0124827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.089	B	0.004	B	.	.	1.000	N	0.895	L	1.92	T	-1.030	T	0.036	T	0.196	2.609	14.69	1.87	0.872	0.977	4.694	0.013	0.00789826133485	0.0010	0.000199681	0.0014	0.0003	0.0021	0	0.0002	0.0018	0.0061	0.0011	0.0013001	201	154602	rs61738780	0.0010	0.0010	0.0010	0.0011	0.0341	0.0010	0.0010	0.0302	0.0287	0.0006	0.0015	0.0108	2.524e-05	0.0001	0.0341	0.0006	0.0026	0.0007	0.0013	0.0013	0.0014	0.0012	0.0018	0.0011	0.0011	0.0013	0.0011	0.0002	0.0209	0.0018	0.0115	0	0.0002	0.0102	0.0012	0.0047	0.0008	0.192	0.33254	T	0.244	0.24123	T	0.089	0.25085	B	0.004	0.10090	B	.	.	.	.	0.999995	0.08975	N	1.3	0.32576	L	1.92	0.23082	T	-0.13	0.50502	N	0.169	0.18649	-1.0297	0.20551	T	0.036	0.15640	T	9	0.0052429438	0.00114	T	0.007898	0.20955	T	0.014	0.01968	.	.	0.15556083564	0.15200	0.05851753216562489	0.05792	0.307009449586	0.33004	0.234686657786	0.02333	T	0.001166	0.00668	T	-0.341553	0.05280	T	-0.288021	0.45978	T	0.00879350879709393	0.00108	T	0.750425	0.37198	T	0.018738678	0.00396	0.031751476	0.01808	0.018738678	0.00396	0.031751476	0.01808	-3.202	0.12628	T	.	.	0.092	0.13503	B	.;.	.;.	2.422020	0.31145	18.65	0.99385033340285744	0.62068	0.17497	0.19862	N	AEFDGBHCI	0.069256	0.13700	N	-0.502872519806394	0.21986	1.170848	-0.426668772490506	0.24218	1.324966	0.999999980921071	0.74766	0.730579	0.87903	0	0.635938	0.57008	0	0.749866	0.98131	0	0.721622	0.92947	0	.	.	3.95	1.87	0.24559	0.534000	0.22807	3.797000	0.39853	-0.695000	0.04090	0.395000	0.26129	1.000000	0.68203	0.606000	0.31539	0.3025:0.0:0.6975:0.0	4.694	0.12179	457	0.78953	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1201.98	34	chr11	64355623	.	G	A	1201.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.878;DP=813;ExcessHet=0.0000;FS=0.686;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.93;ReadPosRankSum=0.896;SOR=0.592	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1105	20	0	1	0
chr11	64556141	64556141	C	T	exonic	SLC22A11	.	stopgain	SLC22A11:NM_001307985:exon1:c.C142T:p.R48X	.	.	5	1514	3	0	0	3	0.000989772	.	.	3213342	SLC22A11-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.014	U	1.000	A	.	.	.	.	.	.	.	.	.	4.383	23.2	2.87	0.942	2.023	9.601	.	.	0.0028	0.000399361	0.0026	0.0009	0.0019	0	0.0011	0.0041	0.0022	6.056e-05	0.0027943	432	154602	rs35008345	0.0042	0.0042	0.0044	0.0041	0.0047	0.0042	0.0041	0.0046	0.0046	0.0010	0.0016	0.0132	2.519e-05	0.0019	0.0005	0.0047	0.0060	0.0002	0.0027	0.0027	0.0028	0.0025	0.0041	0.0025	0.0024	0.0037	0.0036	0.0007	0	0.0012	0.0173	0	0.0012	0	0.0041	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.014288	0.28577	U	0.323968	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.795	0.80180	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232848	0.76987	D	0.566539	0.96104	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;.	High;.;.	7.433979	0.96513	36	0.99797399377581597	0.88283	0.83020	0.42175	D	AEFBI	0.169521	0.29636	N	0.351976418673768	0.58845	4.059226	0.0928819393661997	0.44190	2.705561	0.99983096377365	0.43792	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	2.87	0.32523	1.921000	0.39665	-0.047000	0.12595	0.548000	0.25860	1.000000	0.71638	0.002000	0.18203	0.085000	0.17524	0.0:0.8928:0.0:0.1072	9.601	0.38768	394	0.83065	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1814.98	141	chr11	64556141	.	C	T	1814.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=849;ExcessHet=0.0000;FS=2.154;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=0.00;SOR=0.927	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1275	20	0	1	0
chr11	64556184	64556184	C	G	exonic	SLC22A11	.	nonsynonymous SNV	SLC22A11:NM_001307985:exon1:c.C185G:p.T62R	.	.	1	1517	4	0	0	4	0.00131666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.228	B	0.088	B	0.585	U	1.000	N	-0.145	N	2.43	T	-0.988	T	0.017	T	0.182	-0.453	1.902	-3.83	-0.610	-0.461	3.702	0.016	.	.	0.00419329	0.0022	0	0	0	0	1.499e-05	0	0.0164	0.0019728	305	154602	rs200043601	0.0009	0.0009	0.0005	0.0012	0.0139	0.0008	0.0008	0.0133	0.0130	8.961e-05	2.236e-05	0	2.519e-05	0	0.0003	8.093e-06	0.0010	0.0139	0.0005	0.0005	0.0003	0.0007	0.0153	0.0004	0.0004	0.0125	0.0115	0.0001	0	0	0	0	0	0	1.47e-05	0.0005	0.0153	0.525	0.07772	T	0.575	0.09393	T	0.008	0.16609	B	0.002	0.13708	B	0.585490	0.05560	U	1.418460	1	0.08975	N	-0.305	0.03614	N	2.43	0.15261	T	-0.84	0.28703	N	0.089	0.12341	-0.9877	0.33175	T	0.017	0.06950	T	10	0.0038828254	0.00074	T	.	.	.	0.016	0.02506	0.582	0.70861	0.0806252709748	0.07271	0.35573798932375766	0.35487	0.220647704067	0.24609	0.285391807556	0.08255	T	0.011713	0.13597	T	-0.677333	0.00050	T	-0.732745	0.04204	T	0.00557494759337126	0.00061	T	0.452755	0.14510	T	0.052059	0.09652	0.050	0.07868	0.052059	0.09651	0.050	0.07868	-4.152	0.26053	T	.	.	0.076	0.06525	B	.;.;.	.;.;.	-0.643639	0.01456	0.089	0.2287985185618607	0.00941	0.01007	0.03804	N	AEFBI	0.042274	0.06537	N	-1.49175041720052	0.01908	0.08372123	-1.54314617453346	0.02023	0.09248042	0.999541380433053	0.40300	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-3.83	0.03988	-1.156000	0.03270	-6.328000	0.01430	-1.005000	0.01788	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.247:0.3036:0.3654:0.084	3.702	0.07916	394	0.83065	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2226.98	43	chr11	64556184	.	C	G	2226.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.882;DP=884;ExcessHet=0.0000;FS=0.561;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=0.219;SOR=0.765	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1275	20	0	1	0
chr11	64556361	64556361	G	A	exonic	SLC22A11	.	nonsynonymous SNV	SLC22A11:NM_001307985:exon1:c.G362A:p.R121H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.544	P	0.099	B	0.062	N	1.000	N	0.245	N	-1.26	T	-0.890	T	0.138	T	0.082	-0.280	2.662	-6.82	-1.338	-2.287	6.412	0.112	0.0232183559612	.	0.000199681	8.409e-06	0	0	0.0001	0	0	0	0	1.29e-05	2	154602	rs200647534	1.644e-05	1.984e-05	2.318e-05	9.638e-06	0.0005	1.112e-05	9.35e-06	0.0001	7.541e-05	0	8.946e-05	0	2.519e-05	0	0.0005	9.892e-06	4.969e-05	2.319e-05	0.0001	0.0001	8.991e-05	0.0001	0.0009	7.569e-05	6.275e-05	0.0006	0.0004	0	0	0.0009	0	0.0008	0	0	0	0	0	0.416	0.12386	T	0.309	0.20486	T	0.036	0.25713	B	0.024	0.20255	B	0.062016	0.22128	N	0.441048	1	0.08975	N	0.38	0.12130	N	-1.26	0.79176	T	-0.17	0.09627	N	0.043	0.06854	-0.8896	0.48969	T	0.138	0.45621	T	10	0.015597254	0.00327	T	0.023218	0.46168	T	0.112	0.31546	.	.	0.246215685461	0.24236	0.2780902869230835	0.27722	0.25259744787	0.27827	0.194809272885	0.00322	T	0.025393	0.19915	T	-0.398395	0.02373	T	-0.554998	0.16849	T	0.0218903473461523	0.00897	T	0.614838	0.38090	T	0.019756965	0.00514	0.025327757	0.00574	0.019756965	0.00513	0.025327757	0.00574	-4.082	0.28093	T	.	.	0.066	0.02548	B	.;.;.	.;.;.	-0.321685	0.02524	0.300	0.87657376772322826	0.17386	0.01154	0.04169	N	AEFDGBI	0.046811	0.07813	N	-1.52904652383482	0.01661	0.07266618	-1.64541267955064	0.01400	0.06326227	0.999999196675064	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.97	-6.82	0.01537	-1.239000	0.03026	-8.147000	0.01020	-0.848000	0.02741	0.000000	0.06391	0.000000	0.08366	0.685000	0.33688	0.6206:0.0:0.1466:0.2328	6.412	0.20897	394	0.83065	Major facilitator superfamily domain|Major facilitator superfamily domain;.;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1824.98	43	chr11	64556361	.	G	A	1824.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.000e-02;DP=849;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.94;MQRankSum=0.00;QD=14.60;ReadPosRankSum=-1.078e+00;SOR=0.640	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1275	20	0	1	0
chr11	64559204	64559204	G	A	exonic	SLC22A11	.	nonsynonymous SNV	SLC22A11:NM_001307985:exon2:c.G463A:p.V155M	.	.	400	1116	5	1	0	7	0.0031264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.735	P	0.389	B	0.242	N	1.000	N	1.78	L	-1.45	T	-0.785	T	0.127	T	0.066	1.612	11.35	-1.41	-0.091	0.126	5.730	0.241	.	0.0095	0.0071885	0.0027	0.0253	0.0018	0	0	0.0004	0.0033	0.0004	0.0025873	400	154602	rs61744144	0.0012	0.0012	0.0012	0.0011	0.0292	0.0011	0.0011	0.0277	0.0270	0.0292	0.0024	3.841e-05	0	0	0.0075	0.0003	0.0032	0.0006	0.0081	0.0081	0.0085	0.0076	0.0265	0.0077	0.0075	0.0252	0.0246	0.0265	0	0.0048	0	0	0	0.0136	0.0005	0.0080	0.0004	0.057	0.44358	T	0.03	0.54159	D	0.735	0.42814	P	0.389	0.44119	B	0.242122	0.15689	N	0.609611	0.999998	0.08975	N	1.7	0.43825	L	-1.45	0.80899	T	-1.84	0.43149	N	0.133	0.19593	-0.7850	0.56019	T	0.127	0.43401	T	10	0.013583392	0.00288	T	.	.	.	0.241	0.54641	.	.	0.704826807829	0.70226	0.14205192489729493	0.14128	0.400906263114	0.41090	0.250800430775	0.03852	T	0.290556	0.68889	T	-0.516651	0.00460	T	-0.495986	0.22764	T	0.00299681258652026	0.00031	T	0.675332	0.33029	T	0.048425935	0.08439	0.08586936	0.19856	0.048425935	0.08439	0.08586936	0.19856	-4.698	0.33380	T	.	.	0.129	0.29283	B	.;.;.	.;.;.	1.123288	0.15092	11.58	0.97891146172726351	0.36669	0.06953	0.12979	N	AEFDBI	0.056852	0.10542	N	-0.659831005700315	0.17174	0.8815186	-0.863449103779512	0.12965	0.6699449	0.74977269259496	0.23341	0.497415	0.19182	0	0.59043	0.45803	0	0.491513	0.07944	0	0.613276	0.41899	0	.	.	3.37	-1.41	0.08473	-0.187000	0.09652	-0.985000	0.06699	0.617000	0.49538	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.235:0.3391:0.4259:0.0	5.730	0.17301	401	0.82673	Major facilitator superfamily domain|Major facilitator superfamily domain;.;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1962.11	33	chr11	64559204	.	G	A	1962.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.09;DP=851;ExcessHet=0.1072;FS=1.158;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=0.906;SOR=0.605	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1173	19	0	2	0
chr11	64685711	64685711	G	A	exonic	NRXN2	.	nonsynonymous SNV	NRXN2:NM_138732:exon5:c.C1015T:p.P339S	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.996	D	0.001	U	1.000	D	1.29	L	-0.99	T	-0.809	T	0.209	T	0.5	4.533	24.5	4.0	1.951	9.864	13.984	0.617	0.065505527295	.	.	2.471e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs778165988	1.573e-05	1.573e-05	5.445e-06	2.613e-05	0.0003	1.048e-05	8.75e-06	0.0002	0.0001	0	0	0	0	0	0	0	1.656e-05	0.0003	2.628e-05	2.626e-05	1.284e-05	4.034e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.058	0.42783	T	0.003	0.76473	D	0.982	0.90584	D	0.916	0.84481	D	0.000620	0.42945	U	0.000000	1	0.81001	D	2.025	0.55430	M	-1.13	0.77719	T	-5.88	0.92736	D	0.82	0.82257	-0.8086	0.54635	T	0.209	0.56812	T	10	0.6361176	0.68791	D	0.065506	0.69598	D	0.617	0.85091	0.676	0.81398	0.443653779002	0.43985	0.8139714470820596	0.81353	0.619018765651	0.56272	0.832400798798	0.86930	D	0.480529	0.80948	T	-0.125256	0.32268	T	-0.117374	0.62017	T	0.64067667722702	0.38066	D	0.999243	0.99707	D	0.2593134	0.48984	0.43924248	0.67283	0.2593134	0.48984	0.43924248	0.67283	-14.067	0.93272	D	.	.	0.969	0.95431	P	.;.;.;.;.	.;.;.;.;.	5.567442	0.92191	32	0.9991287909559543	0.98167	0.98249	0.80922	D	AEFDGBI	0.941138	0.94402	D	0.348085830174715	0.58640	4.037353	0.403920785458783	0.61807	4.386317	0.999999998984536	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.0	4.0	0.45673	9.998000	0.99325	11.835000	0.97647	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	13.984	0.63836	382	0.83637	Laminin G domain|Laminin G domain|Laminin G domain;.;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3832.98	35	chr11	64685711	.	G	A	3832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.56;DP=1046;ExcessHet=0.0000;FS=0.833;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.37;ReadPosRankSum=6.000e-03;SOR=0.756	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr11	64754024	64754024	G	A	exonic	PYGM	.	nonsynonymous SNV	PYGM:NM_001164716:exon8:c.C830T:p.A277V	McArdle disease, Autosomal recessive	YES	0	1517	5	0	0	5	0.00164528	0.9843	0.844	199796	Glycogen_storage_disease,_type_V|not_provided|Tip-toe_gait	MONDO:MONDO:0009293,MedGen:C0017924,OMIM:232600,Orphanet:368|MedGen:C3661900|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.98	H	-3.63	D	1.091	D	0.943	D	0.954	4.436	23.6	4.8	2.483	9.657	15.389	0.946	0.158071572957	0.0005	0.000998403	0.0010	0.0004	0.0004	0	0	0.0016	0.0085	0.0002	0.0006404	99	154602	rs116135678	0.0009	0.0009	0.0009	0.0009	0.0013	0.0008	0.0008	0.0010	0.0010	0.0003	0.0013	0.0008	0	9.626e-05	0.0002	0.0010	0.0010	0.0001	0.0007	0.0007	0.0009	0.0006	0.0010	0.0006	0.0006	0.0008	0.0008	0.0004	0	0.0008	0.0009	0.0002	9.422e-05	0.0034	0.0010	0.0019	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000422	0.44522	D	0.099614	1	0.81001	D	4.575	0.99193	H	-3.63	0.95111	D	-3.39	0.66896	D	0.86	0.86511	1.091	0.99299	D	0.943	0.98115	D	10	0.3597877	0.52638	T	0.158072	0.83854	D	0.946	0.98921	.	.	0.981337301666	0.98113	0.930101038355278	0.92989	0.663232540941	0.59011	0.595907211304	0.52327	T	0.895794	0.97918	D	0.265292	0.80015	D	0.557856	0.95805	D	0.25692355632782	0.23180	T	0.993601	0.97904	D	0.9139113	0.92663	0.88170856	0.93681	0.9105789	0.92350	0.84944135	0.91468	-12.662	0.87923	D	0.485888924404009	0.56367	0.911	0.83519	P	.;.	.;.	5.923822	0.94075	33	0.99931805513787864	0.99387	0.99791	0.99491	D	AEFDBI	0.911148	0.87004	D	0.942628734366652	0.93685	12.20681	0.801532130829481	0.89899	10.16914	0.999999999978264	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.8	4.8	0.61157	10.003000	0.99689	11.707000	0.94592	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.632000	0.32210	0.0:0.0:1.0:0.0	15.389	0.74451	384	0.83545	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	866.98	36	chr11	64754024	.	G	A	866.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.713;DP=770;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.98;ReadPosRankSum=-1.341e+00;SOR=0.776	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1023	20	0	1	0
chr11	64755280	64755280	T	C	exonic	PYGM	.	nonsynonymous SNV	PYGM:NM_001164716:exon5:c.A584G:p.N195S	McArdle disease, Autosomal recessive	.	0	1515	7	0	0	7	0.00230491	.	.	177268	PYGM-related_disorder|not_provided|Glycogen_storage_disease,_type_V	.|MedGen:C3661900|MONDO:MONDO:0009293,MedGen:C0017924,OMIM:232600,Orphanet:368	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.985	D	0.857	P	0.000	D	1.000	D	2.43	M	-3.25	D	0.887	D	0.862	D	0.252	4.506	24.2	5.63	2.153	8.040	13.793	0.738	0.151652242425	0.0011	0.000798722	0.0017	0.0004	0.0002	0.0007	0.0006	0.0025	0.0022	0.0014	0.0015912	246	154602	rs114468011	0.0012	0.0012	0.0012	0.0013	0.0013	0.0012	0.0011	0.0013	0.0012	5.975e-05	0.0003	0.0026	0.0003	0.0007	0.0009	0.0013	0.0012	0.0012	0.0008	0.0008	0.0008	0.0008	0.0012	0.0007	0.0006	0.0010	0.0009	0.0003	0	6.537e-05	0.0026	0.0004	0.0011	0	0.0012	0	0.0004	0.042	0.41637	D	0.039	0.51112	D	0.958	0.54977	D	0.742	0.55764	P	0.000003	0.62929	D	0.000000	1	0.81001	D	2.77	0.80896	M	-3.25	0.93587	D	-4.44	0.79743	D	0.816	0.83781	0.887	0.95496	D	0.862	0.95397	D	10	0.1810683	0.33321	T	0.151652	0.83317	D	0.738	0.90895	.	.	0.968106915538	0.96776	0.6664053383360012	0.66578	0.328560466209	0.34964	0.701920390129	0.67422	T	0.672794	0.90307	D	-0.183306	0.23245	T	-0.0419403	0.67570	D	0.0536412005091572	0.06129	T	0.988901	0.96238	D	0.71194464	0.78714	0.55584604	0.74310	0.7266655	0.79537	0.46833518	0.69160	-11.538	0.84626	D	0.2500335282928002	0.33844	0.216	0.44579	B	.;.	.;.	4.387589	0.67691	25.1	0.99851467039427733	0.93102	0.98281	0.81223	D	AEFDGBI	0.927676	0.91072	D	0.72632167137808	0.81359	7.503453	0.70695911163212	0.82910	7.884877	0.999999999999863	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.63	5.63	0.86108	8.017000	0.88732	7.802000	0.69178	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.911000	0.44643	0.0:0.0:0.0:1.0	13.793	0.62642	385	0.83500	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1171.98	35	chr11	64755280	.	T	C	1171.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.180e+00;DP=764;ExcessHet=0.0000;FS=7.040;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.42;ReadPosRankSum=-2.062e+00;SOR=0.204	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1282	20	0	1	0
chr11	64767732	64767752	GGGCCACCTCCGGGCCCACCA	-	exonic	SF1	.	nonframeshift deletion	SF1:NM_001346409:exon9:c.816_836del:p.G273_P279del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1457651936	6.845e-07	6.84e-07	1.362e-06	0	2.521e-05	0	0	.	.	0	0	0	2.521e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2906.94	34	chr11	64767731	.	GGGGCCACCTCCGGGCCCACCA	G	2906.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.636;DP=913;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.30;ReadPosRankSum=-5.500e-02;SOR=0.697	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	20	0	1	0
chr11	64797520	64797520	C	T	exonic	MAP4K2	.	nonsynonymous SNV	MAP4K2:NM_001307990:exon17:c.G1151A:p.R384Q	.	.	365	1153	4	0	0	4	0.0017316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.138	B	0.004	B	0.356	N	0.938	N	0	N	-0.35	T	-1.042	T	0.097	T	0.089	1.167	9.749	2.38	1.129	0.421	5.041	0.039	.	0.0002	0.00638978	0.0118	0	0.0027	0.0015	0	8.286e-05	0.0042	0.0369	0.0031888	493	154602	rs201248836	0.0019	0.0020	0.0011	0.0027	0.0310	0.0018	0.0018	0.0299	0.0295	0.0002	0	0	0.0001	0	0.0007	4.595e-05	0.0022	0.0310	0.0011	0.0011	0.0004	0.0018	0.0319	0.0009	0.0009	0.0278	0.0262	9.632e-05	0	6.535e-05	0	0.0002	0	0	5.882e-05	0.0005	0.0319	0.192	0.20988	T	0.51	0.10821	T	0.138	0.27452	B	0.004	0.10090	B	0.356324	0.13738	N	0.672306	0.938197	0.26870	N	1.15	0.29295	L	-0.35	0.68892	T	-0.89	0.24244	N	0.158	0.18376	-1.0418	0.16770	T	0.097	0.36471	T	10	0.004230231	0.00085	T	.	.	.	0.039	0.10176	.	.	0.60004767732	0.59685	0.34777381450466155	0.34691	0.502431204672	0.48599	0.390242993832	0.23704	T	0.264375	0.63614	T	-0.516317	0.00462	T	-0.491432	0.23241	T	0.0178170832873011	0.00510	T	0.819218	0.48908	T	0.052033283	0.09645	0.04877528	0.07315	0.052033283	0.09645	0.04877528	0.07314	-4.257	0.27797	T	.	.	0.091	0.12938	B	.;.	.;.	3.007565	0.40211	21.1	0.98268601859121507	0.39740	0.14493	0.18432	N	AEFDGBI	0.091137	0.18463	N	-0.763658863053225	0.14264	0.7091753	-0.663324425760922	0.17881	0.952762	0.995670262324658	0.34259	0.706548	0.73137	0	0.697927	0.68747	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.68	2.38	0.28415	0.700000	0.25278	1.241000	0.25107	0.586000	0.30580	0.948000	0.32982	0.879000	0.27682	0.071000	0.16709	0.0:0.6925:0.0:0.3075	5.041	0.13797	334	0.86273	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1169.98	42	chr11	64797520	.	C	T	1169.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=953;ExcessHet=0.0000;FS=1.582;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.93;ReadPosRankSum=1.31;SOR=0.506	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,103,1339	20	0	1	0
chr11	64840600	64840600	G	A	exonic	CDC42BPG	.	nonsynonymous SNV	CDC42BPG:NM_017525:exon4:c.C385T:p.R129C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.981	D	0.001	D	1.000	D	1.78	L	1.76	T	-0.924	T	0.146	T	0.54	4.716	26.2	4.92	2.645	7.773	16.402	0.360	0.0297065564168	.	.	1.653e-05	9.653e-05	0	0	0	0	0	6.058e-05	1.29e-05	2	154602	rs746634700	8.894e-06	8.893e-06	6.807e-06	1.1e-05	0.0001	4.96e-06	3.82e-06	3.982e-05	2.373e-05	0.0001	0	0	0.0001	0	0	2.698e-06	0	2.319e-05	6.568e-06	6.566e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.981	0.75168	D	0.000763	0.41888	D	0.106705	0.999999	0.58761	D	1.895	0.50365	L	1.76	0.25996	T	-5.38	0.84954	D	0.537	0.56489	-0.9242	0.44971	T	0.146	0.47021	T	10	0.6508458	0.69593	D	0.029707	0.52165	D	0.360	0.68052	0.555	0.67271	0.632608894576	0.62959	0.4846487668740961	0.48384	0.889176038593	0.70138	0.489107847214	0.37314	T	0.171432	0.51955	T	-0.137322	0.30318	T	-0.253502	0.49470	T	0.985004425048828	0.76130	D	0.981135	0.93511	D	0.44307062	0.63600	0.4789873	0.69821	0.44307062	0.63601	0.4789873	0.69821	-8.116	0.61859	D	.	.	0.101	0.17657	B	.	.	5.187758	0.86995	29.1	0.99943517431105033	0.99848	0.97261	0.73647	D	AEFDGBI	0.893962	0.83244	D	0.749071154009479	0.82844	7.864268	0.718057451030431	0.83753	8.104444	0.999999999999998	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.92	4.92	0.64147	8.088000	0.89344	9.792000	0.81650	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.073000	0.16832	0.0:0.0:1.0:0.0	16.402	0.83482	304	0.87780	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2103.98	37	chr11	64840600	.	G	A	2103.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.563;DP=951;ExcessHet=0.0000;FS=1.213;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=0.587;SOR=0.804	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1334	20	0	1	0
chr11	64900535	64900535	C	T	exonic	ATG2A	.	nonsynonymous SNV	ATG2A:NM_001367971:exon31:c.G4399A:p.G1467R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	1.795	L	3.09	T	-0.549	T	0.316	T	0.381	4.933	28.6	4.7	2.601	2.426	15.523	0.142	0.0719144156673	7.7e-05	.	2.487e-05	0	8.652e-05	0	0	3.024e-05	0	0	1.94e-05	3	154602	rs140093847	1.506e-05	1.505e-05	1.226e-05	1.788e-05	0.0001	9.86e-06	8.42e-06	3.982e-05	2.373e-05	0.0001	4.472e-05	0	2.519e-05	0	0	1.169e-05	1.656e-05	1.159e-05	3.942e-05	3.94e-05	5.139e-05	2.69e-05	0.0002	1.715e-05	1.129e-05	1.171e-05	6.25e-06	4.827e-05	0	0	0	0.0002	0	0	4.41e-05	0	0	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.93	0.84523	M	3.09	0.08371	T	-5.61	0.86686	D	0.399	0.43995	-0.5493	0.66813	T	0.316	0.68531	T	10	0.3381096	0.50922	T	0.071914	0.71394	D	0.174	0.44019	0.323	0.30387	0.290620346082	0.28682	0.711906392329666	0.71132	1.5434244008	0.87773	0.582800507545	0.50480	T	0.279469	0.65215	T	-0.202646	0.20424	T	-0.353017	0.38859	T	0.986062705516815	0.76881	D	0.910309	0.68205	D	0.7035704	0.78253	0.5807494	0.75699	0.7035704	0.78254	0.5807494	0.75700	-6.033	0.46555	T	.	.	0.300	0.53009	B	.	.	4.991673	0.82753	27.9	0.9993331135380219	0.99488	0.91875	0.54452	D	AEFDBHCI	0.507237	0.53762	D	0.270682893204786	0.54668	3.631948	0.316273796286601	0.56495	3.812962	0.999999999999996	0.74766	0.695654	0.57023	0	0.68618	0.66647	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.7	4.7	0.58776	5.462000	0.66439	5.875000	0.50578	0.599000	0.40250	0.987000	0.36337	1.000000	0.68203	0.934000	0.47231	0.0:1.0:0.0:0.0	15.523	0.75616	271	0.89373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1872.98	36	chr11	64900535	.	C	T	1872.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.531;DP=872;ExcessHet=0.0000;FS=1.203;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=0.053;SOR=0.716	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1484	20	0	1	0
chr11	64902605	64902605	G	T	exonic	ATG2A	.	nonsynonymous SNV	ATG2A:NM_001367971:exon27:c.C3664A:p.L1222M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.441	B	0.138	B	0.000	D	1.000	D	2.395	M	2.07	T	-1.054	T	0.065	T	0.661	3.203	16.73	4.25	2.102	5.186	12.544	0.142	0.0133918804134	.	.	4e-05	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs761954800	8.916e-06	8.893e-06	2.729e-06	1.517e-05	0.0001	4.98e-06	3.83e-06	8.015e-05	6.25e-05	0	0	0	0	0	0	0	1.661e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.053	0.47336	T	0.441	0.35913	B	0.138	0.33406	B	0.000031	0.55875	D	0.000000	0.99997	0.53665	D	2.34	0.67151	M	2.0	0.21473	T	-1.74	0.41239	N	0.557	0.58202	-1.0542	0.13251	T	0.065	0.26702	T	10	0.3877315	0.54665	T	0.013392	0.32756	T	0.142	0.37995	0.574	0.69826	0.320526991862	0.31653	0.586101740457699	0.58540	0.460280711038	0.45581	0.545097589493	0.45166	T	0.261787	0.63330	T	-0.202098	0.20502	T	-0.235928	0.51196	T	0.281640874875407	0.24240	T	0.831017	0.49766	T	0.31019008	0.53802	0.21885626	0.46604	0.31019008	0.53802	0.21885626	0.46603	-10.203	0.75117	D	.	.	0.196	0.41828	B	.	.	3.761911	0.53977	23.4	0.99160424036909811	0.54071	0.94405	0.61061	D	AEFBI	0.635029	0.61469	D	0.254670454921902	0.53870	3.554192	0.309470341660374	0.56094	3.772511	0.999999981553927	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.25	4.25	0.49658	4.550000	0.60443	5.740000	0.49568	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	12.544	0.55536	277	0.89083	Autophagy-related protein 2 CAD motif	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	593.98	19	chr11	64902605	.	G	T	593.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.439e+00;DP=627;ExcessHet=0.0000;FS=4.070;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=0.549;SOR=0.318	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,570	20	0	1	0
chr11	64905831	64905831	G	C	exonic	ATG2A	.	nonsynonymous SNV	ATG2A:NM_001367971:exon23:c.C3258G:p.D1086E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.873	P	0.000	D	0.838	D	2.25	M	2.8	T	-0.187	T	0.310	T	0.579	2.359	13.85	-9.74	-2.511	-1.223	19.069	0.309	0.0200097966736	.	.	4.164e-05	0	0	0	0	1.519e-05	0	0.0002	3.23e-05	5	154602	rs746493893	1.369e-05	1.436e-05	8.171e-06	1.926e-05	0.0002	8.94e-06	7.27e-06	8.885e-05	7.053e-05	0	0	0	0	0	0	4.496e-06	3.312e-05	0.0002	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.007	0.59928	D	0.011	0.64786	D	0.998	0.73220	D	0.873	0.61978	P	0.000000	0.84330	D	0.000000	0.837558	0.35014	D	2	0.54354	M	2.79	0.11189	T	-3.18	0.64478	D	0.327	0.36779	-0.1871	0.78001	T	0.310	0.68012	T	10	0.21316683	0.37800	T	0.02001	0.42512	T	0.309	0.63055	0.425	0.47021	0.110392049598	0.10638	0.5941210682698207	0.59342	0.498287774507	0.48305	0.591419935226	0.51694	T	0.27282	0.64523	T	-0.363091	0.03958	T	-0.467183	0.25821	T	0.621918261051178	0.37284	D	0.819518	0.47762	T	0.3357326	0.55938	0.28395772	0.54391	0.3357326	0.55938	0.28395772	0.54390	-9.838	0.72936	D	.	.	0.521	0.65537	A	.	.	0.270205	0.06479	2.956	0.95585351828917031	0.27299	0.15013	0.18700	N	AEFDGBCI	0.172139	0.29915	N	-1.42651203502031	0.02408	0.1062886	-1.65949390910248	0.01327	0.05990846	0.998444790347566	0.36977	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.87	-9.74	0.00425	-1.367000	0.02689	-2.902000	0.03246	-3.229000	0.00107	0.002000	0.15269	0.000000	0.08366	0.204000	0.22012	0.3733:0.0:0.6267:0.0	19.069	0.93109	284	0.88763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	854.98	33	chr11	64905831	.	G	C	854.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=767;ExcessHet=0.0000;FS=2.021;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=-3.340e-01;SOR=0.473	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1458	20	0	1	0
chr11	64906531	64906531	C	T	exonic	ATG2A	.	nonsynonymous SNV	ATG2A:NM_001367971:exon21:c.G2962A:p.A988T	.	.	408	1113	0	1	0	2	0.000897666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.001	B	0.002	B	0.132	N	1.000	N	0.41	N	3.27	T	-1.017	T	0.053	T	0.243	-0.148	3.275	2.53	0.364	0.571	7.548	0.008	0.0047125108673	.	.	9.262e-05	9.99e-05	0	0	0	0.0001	0	6.121e-05	8.41e-05	13	154602	rs202106316	8.08e-05	8.072e-05	6.812e-05	9.36e-05	0.0023	6.874e-05	6.427e-05	0.0013	0.0011	0	2.237e-05	0	0	0	0.0023	8.275e-05	0.0001	3.479e-05	8.546e-05	8.537e-05	8.993e-05	8.077e-05	0.0002	4.959e-05	3.964e-05	0.0001	7.898e-05	0	0	6.542e-05	0	0	0	0	0.0002	0	0	0.325	0.13349	T	0.359	0.17014	T	0.001	0.07471	B	0.002	0.06944	B	0.131518	0.18620	N	0.551157	1	0.08975	N	0.51	0.13489	N	3.27	0.06602	T	-0.02	0.07299	N	0.109	0.09490	-1.0173	0.24592	T	0.053	0.22578	T	10	0.04602644	0.03743	T	0.004713	0.11722	T	0.013	0.01715	0.357	0.35897	0.0934897674506	0.08844	0.3516684833874365	0.35080	0.142565980595	0.16080	0.296943932772	0.09946	T	0.022265	0.17198	T	-0.441072	0.01275	T	-0.6163	0.11478	T	0.0175913069397211	0.00492	T	0.717028	0.32946	T	0.017614223	0.00288	0.032207523	0.01920	0.017614223	0.00287	0.032207523	0.01920	-5.121	0.38128	T	.	.	0.069	0.03197	B	.	.	1.199633	0.15918	12.19	0.73775341902354374	0.10451	0.11620	0.16753	N	AEFDGBI	0.086846	0.17609	N	-0.23008961753315	0.31905	1.793748	-0.316482945734272	0.27565	1.530512	0.302161991262056	0.19200	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.39	2.53	0.29594	0.518000	0.22554	0.568000	0.19578	-0.175000	0.10903	0.000000	0.06391	0.093000	0.22564	0.449000	0.27873	0.0:0.665:0.0:0.335	7.548	0.26946	286	0.88678	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1379.98	35	chr11	64906531	.	C	T	1379.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.440e-01;DP=884;ExcessHet=0.0000;FS=0.691;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=0.755;SOR=0.801	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1217	20	0	1	0
chr11	64910899	64910899	G	A	exonic	ATG2A	.	nonsynonymous SNV	ATG2A:NM_001367971:exon11:c.C1522T:p.R508W	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.002	B	0.001	B	0.159	N	0.991	N	1.59	L	3.2	T	-1.024	T	0.019	T	0.331	2.821	15.39	2.96	1.257	0.957	4.819	0.029	0.00798199143251	7.7e-05	0.000199681	2.89e-05	0	9.942e-05	0	0	3.474e-05	0	0	4.53e-05	7	154602	rs144934345	1.233e-05	1.231e-05	5.453e-06	1.928e-05	0.0003	7.71e-06	6.36e-06	6.096e-05	2.522e-05	0	4.489e-05	0	0	0	0.0003	7.197e-06	3.317e-05	4.651e-05	1.313e-05	1.312e-05	1.285e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	0.082	0.33254	T	0.171	0.30339	T	0.002	0.09854	B	0.001	0.04355	B	0.159479	0.17709	N	0.555420	0.991063	0.24087	N	2.2	0.62015	M	3.2	0.07236	T	-0.98	0.25986	N	0.41	0.45047	-1.0236	0.22541	T	0.019	0.08079	T	10	0.07388008	0.11221	T	0.007982	0.21162	T	0.037	0.09474	.	.	0.0675242888579	0.06100	0.436372202197455	0.43554	0.399458701232	0.40972	0.324746131897	0.14140	T	0.011815	0.10487	T	-0.358261	0.04229	T	-0.576547	0.14856	T	0.268961519002914	0.23702	T	0.839616	0.51418	T	0.026316445	0.01673	0.021693522	0.00213	0.026316445	0.01673	0.021693522	0.00212	-5.832	0.44852	T	.	.	0.093	0.13923	B	.	.	2.635786	0.34287	19.58	0.99270060130769255	0.57525	0.51694	0.28955	D	AEFBI	0.204989	0.33138	N	-0.769190636641399	0.14117	0.7006795	-0.745908320490622	0.15822	0.8340746	0.0173932356135486	0.12946	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.24	2.96	0.33383	0.168000	0.16438	2.489000	0.32975	-0.135000	0.12811	0.005000	0.17040	0.790000	0.26855	0.002000	0.04165	0.1162:0.0:0.6312:0.2526	4.819	0.12745	295	0.88218	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	748.98	37	chr11	64910899	.	G	A	748.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.405;DP=759;ExcessHet=0.0000;FS=2.380;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=0.053;SOR=0.373	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1083	20	0	1	0
chr11	64914131	64914131	G	T	exonic	ATG2A	.	nonsynonymous SNV	ATG2A:NM_001367971:exon3:c.C437A:p.P146Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.89	P	0.521	P	0.003	N	1.000	D	1.265	L	0.38	T	-0.987	T	0.144	T	0.191	3.890	19.78	3.89	2.205	3.802	13.792	0.089	0.0211615926821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.38633	T	0.175	0.29945	T	0.89	0.48942	P	0.521	0.48239	P	0.002788	0.35935	N	0.226724	0.999985	0.54805	D	1.555	0.39373	L	0.38	0.57575	T	-1.63	0.39119	N	0.35	0.39153	-0.9873	0.33273	T	0.144	0.46714	T	10	0.2113694	0.37563	T	0.021162	0.43885	T	0.089	0.25827	0.366	0.37361	0.187035705434	0.18338	0.4670436836217204	0.46623	1.17208794008	0.79793	0.496590554714	0.38353	T	0.012792	0.11182	T	-0.120391	0.33059	T	-0.41071	0.32143	T	0.896789252758026	0.54857	D	0.720728	0.33361	T	0.09863943	0.23268	0.14412205	0.34227	0.09863943	0.23268	0.14412205	0.34226	-9.331	0.69802	D	.	.	0.138	0.30211	B	.	.	3.955204	0.57969	23.9	0.98821099219611519	0.46786	0.94943	0.62871	D	AEFDBI	0.498063	0.53232	N	0.117858701148678	0.47297	2.957332	0.110016611736745	0.45059	2.775971	0.999999986756825	0.74766	0.695654	0.57023	0	0.611049	0.52481	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.89	3.89	0.44098	3.338000	0.51846	7.472000	0.59162	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.392000	0.26603	0.0:0.0:1.0:0.0	13.792	0.62640	300	0.87974	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	86.1	35	chr11	64914131	.	G	T	86.1	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.157e+00;DP=779;ExcessHet=0.1072;FS=73.932;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.99;ReadPosRankSum=-1.132e+00;SOR=6.183	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1127	19	0	2	0
chr11	65172786	65172786	C	T	exonic	SPDYC	.	nonsynonymous SNV	SPDYC:NM_001008778:exon6:c.C619T:p.R207W,	.	.	412	1086	23	1	0	25	0.0113792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.428	B	0.054	B	0.151	N	1.000	N	0.805	L	.	.	-1.086	T	0.048	T	0.441	4.315	22.6	-1.57	-0.609	0.369	9.662	0.115	.	0.0007	0.00459265	0.0044	0.0002	0.0002	0	0	0.0009	0.0066	0.0279	0.0037968	587	154602	rs149911369	0.0022	0.0022	0.0014	0.0030	0.0267	0.0021	0.0021	0.0258	0.0255	8.961e-05	0.0002	0.0006	2.519e-05	0.0001	0.0111	0.0006	0.0021	0.0267	0.0015	0.0015	0.0012	0.0019	0.0262	0.0014	0.0013	0.0224	0.0210	0.0001	0.0253	0.0009	0.0003	0	9.409e-05	0.0034	0.0009	0.0014	0.0262	0.007	0.59928	D	0.099	0.38891	T	0.428	0.35540	B	0.054	0.25828	B	0.151483	0.17953	N	0.426269	1	0.08975	N	2.14	0.59869	M	.	.	.	-5.78	0.87988	D	0.425	0.46462	-1.0856	0.06298	T	0.048	0.20315	T	9	0.0054340363	0.00120	T	.	.	.	0.115	0.32236	.	.	0.0138822411134	0.00435	0.5131026573056315	0.51232	0.605002519522	0.55411	0.463276922703	0.33760	T	0.29755	0.67014	T	-0.391484	0.02631	T	-0.314167	0.43211	T	0.133441322623025	0.15696	T	0.842916	0.51943	T	0.11537144	0.27226	0.13916165	0.33212	0.11537144	0.27225	0.13916165	0.33211	-3.978	0.23473	T	.	.	0.159	0.35140	B	.	.	2.075615	0.26395	17.10	0.99795229772460403	0.88017	0.15507	0.18946	N	AEFDBHCI	0.133055	0.25258	N	-0.794925115796787	0.13441	0.6621973	-0.86613044335967	0.12900	0.6662648	0.529622566827932	0.21165	0.65861	0.49226	0	0.547309	0.14657	0	0.725225	0.93170	0	0.613276	0.41899	0	.	.	5.5	-1.57	0.08055	0.060000	0.14220	-1.064000	0.06442	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.374000	0.26200	0.4467:0.3164:0.2369:0.0	9.662	0.39125	411	0.82069	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1903.98	33	chr11	65172786	.	C	T	1903.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.77;DP=851;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.42;ReadPosRankSum=0.034;SOR=0.706	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr11	65206572	65206572	G	A	exonic	CAPN1	.	nonsynonymous SNV	CAPN1:NM_001198868:exon13:c.G1463A:p.R488H	Spastic paraplegia 76, autosomal recessive, Autosomal recessive	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.005	B	0.013	B	0.001	N	1.000	D	1.475	L	-2.31	D	-0.265	T	0.494	T	0.401	3.112	16.40	5.26	2.448	2.192	9.897	0.318	0.0377587424194	7.9e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376981701	1.232e-05	1.231e-05	1.226e-05	1.238e-05	0.0002	7.7e-06	6.35e-06	1.779e-05	8.93e-06	2.987e-05	6.708e-05	0	0	0	0.0002	1.079e-05	0	1.159e-05	1.314e-05	1.313e-05	2.569e-05	0	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.149	0.24758	T	0.156	0.31833	T	0.005	0.12996	B	0.013	0.16460	B	0.001464	0.38917	N	0.255699	0.999963	0.52935	D	1.74	0.45129	L	-2.31	0.87750	D	-1.97	0.45587	N	0.532	0.56231	-0.2651	0.75948	T	0.494	0.80820	T	10	0.5360991	0.63455	D	0.037759	0.57812	D	0.318	0.64008	.	.	0.950229787061	0.94970	0.4757507506659741	0.47494	0.407132861542	0.41578	0.430837601423	0.29323	T	0.530442	0.83742	D	-0.079646	0.39772	T	-0.155211	0.58781	T	0.344970634758008	0.26821	T	0.889111	0.62070	D	0.060953952	0.12567	0.07114312	0.15198	0.060953952	0.12567	0.07114312	0.15198	-7.409	0.56968	T	0.17659385832641158	0.22541	0.092	0.13597	B	.;.;.;.;.	.;.;.;.;.	4.046625	0.59952	24.2	0.9979016927839921	0.87572	0.96472	0.69308	D	AEFGBHI	0.681566	0.64487	D	-0.052606364019366	0.39485	2.329315	0.120037921543593	0.45574	2.818236	0.96616264111354	0.28884	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	5.26	0.73479	1.979000	0.40231	7.276000	0.58006	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0928:0.0:0.9072:0.0	9.897	0.40496	405	0.82444	Peptidase C2, calpain, large subunit, domain III|Peptidase C2, calpain, domain III|Calpain subdomain III;Peptidase C2, calpain, large subunit, domain III|Peptidase C2, calpain, domain III|Calpain subdomain III;Peptidase C2, calpain, large subunit, domain III|Peptidase C2, calpain, domain III|Calpain subdomain III;Peptidase C2, calpain, large subunit, domain III|Peptidase C2, calpain, domain III|Calpain subdomain III;Peptidase C2, calpain, large subunit, domain III|Peptidase C2, calpain, domain III|Calpain subdomain III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1991.98	37	chr11	65206572	.	G	A	1991.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=881;ExcessHet=0.0000;FS=3.647;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.22;ReadPosRankSum=0.719;SOR=0.454	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1307	20	0	1	0
chr11	65210028	65210028	G	A	exonic	CAPN1	.	nonsynonymous SNV	CAPN1:NM_001198868:exon19:c.G1874A:p.R625Q	Spastic paraplegia 76, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	1.0	D	0.999	D	0.000	D	1.000	D	1.63	L	-0.48	T	-0.176	T	0.450	T	0.711	4.915	28.4	4.67	2.129	7.670	15.082	0.462	0.0320228435224	.	.	2.507e-05	0	0	0	0	1.52e-05	0	0.0001	3.88e-05	6	154602	rs537493793	3.491e-05	3.489e-05	3.677e-05	3.302e-05	0.0003	2.698e-05	2.439e-05	0.0002	0.0002	5.974e-05	0	0	0	0	0	2.159e-05	3.313e-05	0.0003	6.58e-06	6.568e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.184	0.21634	T	0.24	0.24406	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.91	0.51138	L	-0.48	0.70249	T	-2.09	0.47683	N	0.741	0.74098	-0.1758	0.78286	T	0.450	0.78455	T	10	0.81042963	0.80333	D	0.032023	0.53962	D	0.462	0.75889	0.433	0.48336	0.857887203457	0.85651	0.5902494934118407	0.58954	1.13460432255	0.78742	0.552204847336	0.46168	T	0.303823	0.67615	T	-0.0532359	0.43954	T	-0.0220973	0.68891	D	0.553633305421471	0.34614	D	0.89951	0.64815	D	0.1359926	0.31541	0.14407584	0.34219	0.1359926	0.31541	0.14407584	0.34218	-7.235	0.55732	T	0.3195962581329348	0.41772	0.540	0.68615	A	.;.;.;.;.	.;.;.;.;.	7.489094	0.96568	36	0.99942175682684942	0.99824	0.99635	0.98202	D	AEFDBI	0.962141	0.98364	D	0.665166308954657	0.77354	6.658589	0.642598965661136	0.78063	6.80098	0.999999915586161	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.67	4.67	0.58089	7.793000	0.84418	6.466000	0.55704	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	15.082	0.71794	405	0.82444	EF-hand domain;EF-hand domain;EF-hand domain;EF-hand domain;EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1650.98	62	chr11	65210028	.	G	A	1650.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.978;DP=995;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=-1.290e-01;SOR=0.688	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1175	20	0	1	0
chr11	65356262	65356262	C	G	exonic	TIGD3	.	nonsynonymous SNV	TIGD3:NM_145719:exon2:c.C454G:p.P152A,	.	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.0	B	0.001	B	0.318	N	1.000	N	0.345	N	2.66	T	-0.938	T	0.015	T	0.195	-2.461	0.003	1.59	0.310	0.519	4.749	0.035	0.00330746818498	0.0002	0.000798722	0.0004	0.0001	0.0003	0	0	0.0004	0.0011	0.0009	0.0004075	63	154602	rs147453408	0.0003	0.0003	0.0002	0.0003	0.0035	0.0002	0.0002	0.0023	0.0019	5.974e-05	0.0004	0	0	1.913e-05	0.0035	0.0002	0.0005	0.0007	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0002	0.0002	2.405e-05	0	0.0005	0	0	0	0.0034	0.0002	0.0009	0.0004	0.742	0.03674	T	0.328	0.18675	T	0.0	0.02946	B	0.001	0.04355	B	0.317818	0.14323	N	0.520751	1	0.08975	N	0.975	0.24501	L	2.66	0.12575	T	1.22	0.01051	N	0.17	0.18103	-0.9375	0.43010	T	0.015	0.06282	T	10	0.008637041	0.00196	T	0.003307	0.07359	T	0.035	0.08770	.	.	0.278143212241	0.27437	0.7605552706940572	0.76003	0.362202545277	0.37875	0.447788566351	0.31642	T	0.003957	0.03363	T	-0.586257	0.00177	T	-0.712301	0.05178	T	0.0135737877304247	0.00250	T	0.424958	0.11391	T	0.019165764	0.00443	0.045275193	0.06056	0.019165764	0.00442	0.045275193	0.06056	-3.836	0.21343	T	.	.	0.051	0.00183	B	.	.	-0.477143	0.01941	0.165	0.70808766448523419	0.09418	0.02023	0.06073	N	AEFDBI	0.053415	0.09624	N	-1.08689517288357	0.06883	0.3181822	-1.07777197400331	0.08139	0.3988703	0.992817721790232	0.32978	0.59774	0.34471	0	0.588066	0.40923	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	3.57	1.59	0.22622	-0.037000	0.12116	0.776000	0.21438	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.6328:0.2374:0.1299	4.749	0.12425	312	0.87382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	4325.11	33	chr11	65356262	.	C	G	4325.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.22;DP=1020;ExcessHet=0.1072;FS=2.830;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.36;ReadPosRankSum=-2.950e-01;SOR=0.617	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1251	19	0	2	0
chr11	65537979	65537979	G	A	exonic	SCYL1	.	nonsynonymous SNV	SCYL1:NM_001048218:exon16:c.G1993A:p.D665N	Spinocerebellar ataxia, autosomal recessive 21, Autosomal recessive	.	426	1076	18	2	0	22	0.0101196	.	.	724599	not_provided|SCYL1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.61	T	0.188	B	0.014	B	0.545	N	1.000	N	0.895	L	2.34	T	-1.039	T	0.038	T	0.027	0.072	4.392	-1.38	0.012	1.239	2.047	0.040	0.00966244421481	0.0012	0.000399361	0.0013	0.0004	0.0015	0	0	0.0019	0.0016	0.0005	0.000925	143	154602	rs199946104	0.0011	0.0011	0.0010	0.0011	0.0206	0.0010	0.0010	0.0176	0.0165	0.0009	0.0008	0.0111	0	5.635e-05	0.0206	0.0008	0.0025	0.0004	0.0009	0.0009	0.0011	0.0008	0.0009	0.0008	0.0008	0.0007	0.0006	0.0004	0	0.0009	0.0121	0	0	0.0136	0.0009	0.0043	0.0002	0.733	0.08813	T	0.592	0.09795	T	0.186	0.29254	B	0.006	0.16862	B	0.544722	0.05334	N	1.301530	1	0.08975	N	.	.	.	2.33	0.31731	T	0.87	0.04613	N	0.178	0.24758	-1.0390	0.17617	T	0.038	0.16548	T	10	0.004027277	0.00078	T	0.009662	0.25245	T	0.040	0.10527	.	.	0.0551355673512	0.04727	0.15940107347417007	0.15861	0.363482546623	0.37975	0.278186440468	0.07240	T	0.037192	0.24383	T	-0.651841	0.00071	T	-0.759542	0.03129	T	0.00163861668264738	0.00017	T	0.780122	0.41972	T	0.032872062	0.03395	0.024632156	0.00486	0.03128957	0.02942	0.02929668	0.01253	-3.44	0.17539	T	.	.	0.067	0.05623	B	.;.;.;.;.;.	.;.;.;.;.;.	1.855739	0.23572	16.07	0.38239398921408457	0.02567	0.14239	0.18297	N	AEFDGBCI	0.165939	0.29247	N	-1.37697946463596	0.02855	0.1266677	-1.42258336447293	0.03027	0.1404354	0.999990312932974	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.12	-1.38	0.08554	0.734000	0.25769	3.667000	0.39425	-0.132000	0.13132	0.001000	0.13787	0.905000	0.28034	0.005000	0.06747	0.1104:0.3129:0.3425:0.2343	2.047	0.03346	278	0.89047	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1616.98	33	chr11	65537979	.	G	A	1616.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.73;DP=824;ExcessHet=0.0000;FS=3.239;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=0.277;SOR=0.906	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1093	20	0	1	0
chr11	65540371	65540371	A	C	exonic	LTBP3	.	nonsynonymous SNV	LTBP3:NM_001130144:exon23:c.T3118G:p.C1040G	Dental anomalies and short stature, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.07	H	-5.07	D	0.355	D	0.597	D	0.93	3.941	20.2	4.32	1.593	5.685	9.886	0.860	0.740182708075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.91255	D	0.004	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	5.085	0.99914	H	-5.07	0.99430	D	-10.91	0.99439	D	0.961	0.97095	0.355	0.88419	D	0.597	0.85626	D	10	0.95351577	0.94698	D	0.740183	0.97918	D	0.935	0.98526	0.765	0.89293	0.977396201584	0.97714	0.9958891809602889	0.99586	.	.	0.886498093605	0.94817	D	0.948785	0.99247	D	0.56178	0.96270	D	0.569181	0.96212	D	0.999853849411011	0.99363	D	0.957004	0.99349	D	0.7999752	0.83903	0.6892865	0.81720	0.7999752	0.83905	0.6892865	0.81721	-13.701	0.93253	D	.	.	0.995	0.95479	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.192700	0.87098	29.1	0.97197388487973546	0.32793	0.44968	0.27435	N	ALL	0.905641	0.85741	D	0.473116888572739	0.65524	4.833583	0.415521229888911	0.62532	4.470083	1.0	0.98316	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	4.32	4.32	0.50899	3.821000	0.55401	11.181000	0.88313	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.916000	0.45140	1.0:0.0:0.0:0.0	9.886	0.40431	278	0.89047	.;EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2601.98	67	chr11	65540371	.	A	C	2601.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.244e+00;DP=1041;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.79;ReadPosRankSum=-1.112e+00;SOR=0.665	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1014	20	0	1	0
chr11	65543442	65543442	G	A	exonic	LTBP3	.	nonsynonymous SNV	LTBP3:NM_001130144:exon17:c.C2461T:p.R821W	Dental anomalies and short stature, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.991	D	0.000	D	1.000	D	2.155	M	-2.28	D	0.629	D	0.747	D	0.58	2.527	14.41	4.39	1.974	2.038	12.463	0.184	0.563867688276	.	.	8.246e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs758861823	3.42e-06	3.42e-06	2.723e-06	4.125e-06	2.236e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	0	2.236e-05	0	0	0	0	3.597e-06	0	0	6.575e-06	6.567e-06	0	1.346e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.021	0.49613	D	0.015	0.63109	D	0.999	0.90584	D	0.951	0.72444	D	0.000009	0.62929	D	0.065178	0.962487	0.81001	D	1.825	0.47900	L	-2.28	0.87512	D	-2.69	0.59059	D	0.389	0.53884	0.629	0.92272	D	0.747	0.91376	D	10	0.7254261	0.73941	D	0.563868	0.96029	D	0.658	0.87184	0.578	0.70347	0.757294173142	0.75509	0.7656614325627071	0.76515	.	.	0.412799954414	0.26844	T	0.772558	0.93924	D	0.10485	0.64812	D	-0.0871669	0.64375	T	0.936863958835602	0.60620	D	0.763424	0.43036	T	0.13018239	0.30383	0.10537846	0.25331	0.13018239	0.30382	0.10537846	0.25331	-10.13	0.74686	D	.	.	0.153	0.50315	B	.;.;.;.	.;.;.;.	4.919238	0.81005	27.4	0.99879508438758957	0.95572	0.90658	0.52018	D	AEFDBI	0.831303	0.74987	D	0.42100348654529	0.62578	4.476017	0.316687682559156	0.56520	3.815444	0.99999998579512	0.74766	0.706548	0.73137	0	0.844039	0.99811	0	0.717052	0.78885	0	0.714379	0.83352	0	.	.	4.39	4.39	0.52211	1.849000	0.38958	5.710000	0.49419	0.662000	0.56354	0.039000	0.20931	1.000000	0.68203	0.922000	0.45779	0.0:0.0:1.0:0.0	12.463	0.55083	276	0.89131	.;Complement Clr-like EGF domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;Complement Clr-like EGF domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;Complement Clr-like EGF domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	809.98	33	chr11	65543442	.	G	A	809.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.97;DP=775;ExcessHet=0.0000;FS=5.106;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=0.239;SOR=1.359	GT:AD:DP:GQ:PL	0/1:37,29:66:99:824,0,832	20	0	1	0
chr11	65551467	65551467	C	T	exonic	LTBP3	.	nonsynonymous SNV	LTBP3:NM_001130144:exon10:c.G1556A:p.S519N	Dental anomalies and short stature, Autosomal recessive	.	0	1500	22	0	0	22	0.00727995	.	.	1525194	Brachyolmia-amelogenesis_imperfecta_syndrome|Inborn_genetic_diseases	MONDO:MONDO:0011018,MedGen:C1832594,OMIM:601216,Orphanet:2899|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.49	T	0.168	B	0.099	B	0.400	N	1.000	N	1.04	L	-1.36	T	-0.871	T	0.311	T	0.075	1.973	12.56	-0.409	0.047	0.056	6.125	0.152	0.0861708774913	.	0.00179712	0.0007	0	8.684e-05	0	0	3.03e-05	0	0.0052	0.0006404	99	154602	rs570380350	0.0004	0.0004	0.0002	0.0005	0.0055	0.0004	0.0004	0.0051	0.0049	0	0	0	5.038e-05	0	0.0016	4.946e-05	0.0005	0.0055	0.0002	0.0002	0.0002	0.0003	0.0062	0.0002	0.0002	0.0045	0.0039	2.407e-05	0	6.539e-05	0	0	0	0	5.881e-05	0	0.0062	0.187	0.24564	T	0.208	0.26969	T	0.145	0.27759	B	0.099	0.30579	B	0.400142	0.04529	N	1.416120	1	0.08975	N	1.355	0.33814	L	-1.4	0.81150	T	-0.57	0.19720	N	0.122	0.14905	-0.8711	0.50446	T	0.311	0.68175	T	10	0.0053569376	0.00118	T	0.086171	0.74682	D	0.152	0.39956	0.277	0.23004	0.661277560528	0.65843	0.41550788690554474	0.41466	.	.	0.349294781685	0.17819	T	0.096512	0.39840	T	-0.481784	0.00722	T	-0.463183	0.26253	T	0.0238298148789706	0.01124	T	0.773923	0.40554	T	0.031429987	0.02981	0.048002582	0.07038	0.032936346	0.03415	0.052800663	0.08771	-5.692	0.43623	T	.	.	0.088	0.20972	B	.;.;.	.;.;.	1.444103	0.18638	13.85	0.97814607929400699	0.36155	0.06490	0.12500	N	AEFDGBHCI	0.073288	0.14654	N	-0.869197293666338	0.11580	0.5596304	-0.876713039163787	0.12647	0.6517537	0.99999999232414	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.584781	0.30282	0	0.714379	0.83352	0	.	.	4.56	-0.409	0.11761	0.062000	0.14264	1.951000	0.29885	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.984000	0.60418	0.476:0.3896:0.1344:0.0	6.125	0.19393	290	0.88477	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	581.98	33	chr11	65551467	.	C	T	581.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.810e-01;DP=734;ExcessHet=0.0000;FS=1.065;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.98;ReadPosRankSum=-1.328e+00;SOR=0.963	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1065	20	0	1	0
chr11	65557857	65557857	-	CAGCAG	exonic	LTBP3	.	nonframeshift insertion	LTBP3:NM_001130144:exon1:c.102_103insCTGCTG:p.L35_G36insLL	Dental anomalies and short stature, Autosomal recessive	.	0	120	30	0	76	106	0.111111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	4305.49	23	chr11	65557854	.	CCAG	C,CCAGCAGCAG,CCAGCAG	4305.49	.	AC=4,6,1;AF=0.095,0.143,0.024;AN=42;BaseQRankSum=0.216;DP=999;ExcessHet=7.7275;FS=5.450;InbreedingCoeff=-0.3548;MLEAC=4,6,1;MLEAF=0.095,0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-5.530e-01;SOR=0.468	GT:AD:DP:GQ:PL	0/1:27,5,0,0:32:99:127,0,1037,208,1053,1261,208,1053,1261,1261	10	0	4	0
chr11	65557857	65557857	-	CAG	exonic	LTBP3	.	nonframeshift insertion	LTBP3:NM_001130144:exon1:c.102_103insCTG:p.L35_G36insL	Dental anomalies and short stature, Autosomal recessive	.	0	120	30	0	76	106	0.111111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	4305.49	23	chr11	65557854	.	CCAG	C,CCAGCAGCAG,CCAGCAG	4305.49	.	AC=4,6,1;AF=0.095,0.143,0.024;AN=42;BaseQRankSum=0.216;DP=999;ExcessHet=7.7275;FS=5.450;InbreedingCoeff=-0.3548;MLEAC=4,6,1;MLEAF=0.095,0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-5.530e-01;SOR=0.468	GT:AD:DP:GQ:PL	0/1:27,5,0,0:32:99:127,0,1037,208,1053,1261,208,1053,1261,1261	10	0	4	0
chr11	65580359	65580359	G	A	exonic	EHBP1L1	.	nonsynonymous SNV	EHBP1L1:NM_001099409:exon6:c.G514A:p.A172T	.	.	427	1074	21	0	0	21	0.00968188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.992	D	0.000	D	1.000	D	1.585	L	-0.74	T	0.407	D	0.679	D	0.591	4.882	28.0	5.31	2.473	7.793	14.458	0.447	0.371394906002	0.0004	0.000399361	0.0011	0.0003	0.0005	0.0002	0	0.0004	0.0022	0.0056	0.0008861	137	154602	rs199551986	0.0008	0.0008	0.0006	0.0010	0.0070	0.0007	0.0007	0.0065	0.0063	8.961e-05	0.0004	3.826e-05	0	1.881e-05	0.0040	0.0004	0.0012	0.0070	0.0004	0.0004	0.0004	0.0005	0.0039	0.0004	0.0003	0.0026	0.0021	0.0002	0	0.0005	0	0.0002	0	0	0.0004	0.0005	0.0039	0.022	0.48642	D	0.0	0.92824	D	1.0	0.90584	D	0.992	0.80445	D	0.000001	0.62929	D	0.000000	0.99999	0.58761	D	2.215	0.62545	M	-0.74	0.85320	T	-3.36	0.72240	D	0.634	0.64733	0.407	0.89203	D	0.679	0.88896	D	10	0.010629058	0.00236	T	0.371395	0.92755	D	0.447	0.74866	.	.	0.938674168669	0.93804	0.45533425564377616	0.45451	0.259595418494	0.28516	0.676835298538	0.63816	T	0.122313	0.67767	T	-0.201702	0.20559	T	-0.0596176	0.66359	T	0.0390820568234655	0.03525	T	0.995075	0.98330	D	0.30694756	0.53520	0.34313014	0.60029	0.30694756	0.53520	0.34313014	0.60028	-10.273	0.75530	D	.	.	0.894	0.82382	P	.;.;.	.;.;.	4.825250	0.78636	26.9	0.99923665458610822	0.98917	0.97831	0.77455	D	AEFGBI	0.828378	0.74748	D	0.726928487087129	0.81398	7.512736	0.721130121449755	0.83984	8.167172	0.999999999940314	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	5.227000	0.65134	11.687000	0.94301	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:0.0:1.0:0.0	14.458	0.67008	280	0.88949	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3766.11	95	chr11	65580359	.	G	A	3766.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.01;DP=1734;ExcessHet=0.1072;FS=1.806;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=0.836;SOR=0.808	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	19	0	2	0
chr11	65583129	65583129	G	-	exonic	EHBP1L1	.	frameshift deletion	EHBP1L1:NM_001099409:exon9:c.2457delG:p.T821Pfs*4,	.	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	8.676e-05	0	0	6.06e-05	0.0011	0.0012	0.0001153	3	26028	rs769320510	0.0003	0.0003	0.0002	0.0003	0.0014	0.0003	0.0003	0.0012	0.0011	2.987e-05	6.71e-05	0.0003	0	1.883e-05	0.0007	0.0002	0.0002	0.0014	0.0001	0.0001	9.014e-05	0.0002	0.0012	8.188e-05	6.741e-05	0.0005	0.0004	2.416e-05	0	6.548e-05	0	0	0	0	0.0001	0.0005	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1685.94	38	chr11	65583128	.	TG	T	1685.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.130e-01;DP=1560;ExcessHet=0.0000;FS=2.182;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=0.438;SOR=0.525	GT:AD:DP:GQ:PL	0/0:98,0:98:99:0,120,1800	20	0	1	0
chr11	65613428	65613428	T	C	exonic	MAP3K11	.	nonsynonymous SNV	MAP3K11:NM_002419:exon1:c.A329G:p.E110G,	.	.	.	.	.	.	.	.	.	.	.	2242017	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.153	B	0.165	B	0.086	N	1.000	D	0.825	L	-0.92	T	-0.641	T	0.260	T	0.399	3.114	16.40	4.47	1.657	3.326	10.175	0.319	0.0349630080215	.	.	8.519e-06	0	0	0	0	1.567e-05	0	0	1.29e-05	2	154602	rs750477481	6.849e-07	6.842e-07	0	1.377e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.034	0.52727	D	0.153	0.28093	B	0.165	0.35019	B	0.086187	0.20600	N	0.456339	0.987159	0.40544	D	0.125	0.08623	N	-0.92	0.75108	T	-1.64	0.39314	N	0.233	0.26233	-0.6406	0.63120	T	0.260	0.63044	T	10	0.230685	0.40025	T	0.034963	0.56032	D	0.319	0.64112	.	.	0.87091800077	0.86966	0.7644548420651011	0.76393	0.924757140821	0.71599	0.653540551662	0.60489	T	0.760689	0.93515	D	-0.0227443	0.48460	T	-0.270447	0.47775	T	0.239478079312317	0.22395	T	0.636336	0.25008	T	0.16049545	0.35995	0.15680008	0.36693	0.16049545	0.35994	0.15680008	0.36692	-2.786	0.08055	T	.	.	0.145	0.31980	B	.	.	4.577823	0.72295	25.8	0.99802246083174462	0.88728	0.89735	0.50392	D	AEFDGBCI	0.591368	0.58749	D	-0.0847874910426243	0.38059	2.223376	0.0538840770857947	0.42259	2.55301	0.999999999053958	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.56214	0.19341	0	.	.	4.47	4.47	0.53770	0.979000	0.29098	5.107000	0.47483	-0.110000	0.15115	0.223000	0.24568	1.000000	0.68203	0.915000	0.45038	0.0:0.0:0.0:1.0	10.175	0.42111	275	0.89190	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1647.98	35	chr11	65613428	.	T	C	1647.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.659e+00;DP=910;ExcessHet=0.0000;FS=4.164;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.00;ReadPosRankSum=-3.900e-02;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1254	20	0	1	0
chr11	65618419	65618419	-	TCA	exonic	PCNX3	.	nonframeshift insertion	PCNX3:NM_032223:exon6:c.1057_1058insTCA:p.V353_P354insI,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2090.94	67	chr11	65618419	.	G	GTCA	2090.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.397;DP=1081;ExcessHet=0.0000;FS=7.149;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.03;ReadPosRankSum=1.43;SOR=0.789	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr11	65618830	65618830	C	T	exonic	PCNX3	.	nonsynonymous SNV	PCNX3:NM_032223:exon6:c.C1468T:p.R490W,	.	.	426	1083	12	1	0	14	0.00642202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.99	D	0.002	N	0.998	D	1.04	L	5.19	T	-0.789	T	0.010	T	0.605	4.042	20.7	4.47	1.259	2.174	11.451	0.105	0.0761287405604	0.0010	.	0.0010	0.0001	0.0016	0	0.0002	0.0015	0	6.619e-05	0.0008279	128	154602	rs201927806	0.0007	0.0007	0.0007	0.0007	0.0156	0.0007	0.0006	0.0130	0.0120	0.0003	0.0019	0.0088	0	7.729e-05	0.0156	0.0004	0.0014	0.0004	0.0007	0.0007	0.0009	0.0006	0.0010	0.0006	0.0006	0.0006	0.0005	0.0002	0	0.0010	0.0098	0	9.418e-05	0.0068	0.0007	0.0009	0.0002	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.99	0.78936	D	0.001913	0.37691	N	0.000000	0.997859	0.44256	D	1.83	0.48079	L	5.19	0.01172	T	-4.08	0.74742	D	0.6	0.61849	-0.7895	0.55759	T	0.010	0.03582	T	10	0.009886563	0.00222	T	0.076129	0.72457	D	0.105	0.29889	.	.	0.742584921238	0.74027	0.41495139940288245	0.41411	.	.	0.836011052132	0.87485	D	0.232789	0.59944	T	-0.383761	0.02949	T	-0.343037	0.40000	T	0.0393116335762621	0.03566	T	0.930507	0.74278	D	0.25654945	0.48695	0.23615758	0.48879	0.25654945	0.48695	0.23615758	0.48878	-7.434	0.57144	T	.	.	0.328	0.55067	B	.	.	4.692846	0.75215	26.3	0.99921986584898226	0.98787	0.94168	0.60319	D	AEFBI	0.542318	0.55811	D	0.424470851088155	0.62770	4.498624	0.420732845723803	0.62857	4.508573	0.999999998380628	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	4.47	0.53770	1.514000	0.35441	2.385000	0.32508	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.18:0.8199:0.0:0.0	11.451	0.49394	275	0.89190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1461.98	41	chr11	65618830	.	C	T	1461.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.000e-01;DP=893;ExcessHet=0.0000;FS=4.287;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=-7.230e-01;SOR=1.090	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr11	65635536	65635536	G	A	exonic	PCNX3	.	nonsynonymous SNV	PCNX3:NM_032223:exon32:c.G5192A:p.R1731Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.998	D	0.951	D	0.000	D	1.000	D	2.905	M	0.9	T	-0.575	T	0.247	T	0.496	4.169	21.6	4.11	2.142	4.306	7.663	0.315	0.0501676548	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1375513932	6.172e-06	6.156e-06	9.553e-06	2.757e-06	1.16e-05	2.9e-06	2.1e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.198e-06	0	1.16e-05	6.571e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.049	0.48336	D	0.997	0.70673	D	0.835	0.59863	P	0.000001	0.84330	D	0.000000	1	0.81001	D	2.97	0.85306	M	0.9	0.45248	T	-2.25	0.50337	N	0.468	0.50418	-0.5751	0.65811	T	0.247	0.61589	T	10	0.54787177	0.64087	D	0.050168	0.64125	D	0.315	0.63694	0.56	0.67958	0.734201428268	0.73182	0.957156494008099	0.95700	.	.	0.753052711487	0.74897	T	0.366424	0.73168	T	-0.0381672	0.46222	T	-0.292601	0.45501	T	0.895845651626587	0.54747	D	0.937606	0.76517	D	0.28655025	0.51669	0.1711663	0.39280	0.28655025	0.51669	0.1711663	0.39279	-6.93	0.53521	T	.	.	0.140	0.30713	B	.	.	5.414069	0.90608	31	0.99933385146240539	0.99488	0.93809	0.59253	D	AEFGBI	0.492476	0.52910	N	0.590914763409504	0.72606	5.83242	0.485795432197805	0.67047	5.032175	0.999987614580826	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.11	4.11	0.47350	4.564000	0.60546	5.196000	0.47916	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.182000	0.21359	0.1137:0.0:0.8863:0.0	7.663	0.27582	275	0.89190	Pecanex, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2656.98	35	chr11	65635536	.	G	A	2656.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.19;DP=879;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.14;ReadPosRankSum=-8.200e-01;SOR=0.654	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1305	20	0	1	0
chr11	65779996	65779996	C	T	exonic	AP5B1	.	nonsynonymous SNV	AP5B1:NM_138368:exon2:c.G497A:p.G166E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.480881392194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.12e-06	2.052e-06	2.797e-06	1.428e-06	0.0002	5.6e-07	1.6e-07	3.1e-07	1.1e-07	0	0	0	0	0	0.0002	1.837e-06	0	0	6.568e-06	6.566e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.067	0.35918	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	0.998107	0.22348	N	2.2	0.62015	M	.	.	.	-0.69	0.19720	N	0.331	0.37197	.	.	.	.	.	.	.	0.3334285	0.50533	T	0.480881	0.94839	D	.	.	.	.	0.504848970537	0.50123	0.46872080282486883	0.46791	0.252148003323	0.27782	0.668223083019	0.62584	T	0.008316	0.07645	T	-0.0545697	0.43751	T	-0.316162	0.42993	T	.	.	.	0.685431	0.29402	T	0.091935426	0.21556	0.20995475	0.45362	0.091935426	0.21556	0.20995475	0.45361	-4.106	0.25379	T	.	.	0.192	0.41094	B	.	.	2.046756	0.26021	16.97	0.99389218735514639	0.62247	0.07162	0.13187	N	ALL	.	.	.	.	.	.	.	.	.	1.0	0.98316	0.516213	0.21343	1	0.484254	0.07192	0	0.651303	0.49530	0	0.372554	0.06265	0	.	.	4.86	2.8	0.31881	1.205000	0.31914	2.024000	0.30222	-0.218000	0.08083	0.003000	0.16062	0.008000	0.19753	0.310000	0.24737	0.0:0.5143:0.4857:0.0	12.080	0.52966	281	0.88893	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	753.98	38	chr11	65779996	.	C	T	753.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.27;DP=793;ExcessHet=0.0000;FS=1.085;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=1.28;SOR=0.957	GT:AD:DP:GQ:PL	0/1:30,26:56:99:768,0,716	20	0	1	0
chr11	65780320	65780320	A	G	exonic	AP5B1	.	nonsynonymous SNV	AP5B1:NM_138368:exon2:c.T173C:p.M58T,	.	.	419	1085	18	0	0	18	0.00822669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.00179712	0.0075	0.0009	0.0041	0	0	0.0076	0	0.0294	0.0016365	253	154602	rs200798182	0.0017	0.0018	0.0015	0.0019	0.0083	0.0016	0.0016	0.0078	0.0076	0.0001	0.0006	0.0402	0	0	0.0058	0.0005	0.0046	0.0083	0.0016	0.0016	0.0016	0.0017	0.0064	0.0015	0.0014	0.0046	0.0040	2.405e-05	0	0.0003	0.0421	0.0002	0	0.0034	0.0009	0.0043	0.0064	0.012	0.54683	D	0.036	0.52060	D	.	.	.	.	.	.	.	.	.	.	0.999716	0.20609	N	0	0.06538	N	.	.	.	-0.62	0.18248	N	0.126	0.11912	.	.	.	.	.	.	.	0.0055917203	0.00124	T	.	.	.	.	.	.	.	0.51891315781	0.51535	0.21808774148507332	0.21724	0.0740337698176	0.08297	0.506674289703	0.39758	T	0.001255	0.00742	T	-0.47688	0.00772	T	-0.453357	0.27327	T	.	.	.	0.39616	0.09972	T	0.2717893	0.50249	0.21979602	0.46732	0.2717893	0.50249	0.21979602	0.46731	-1.205	0.01258	T	.	.	0.170	0.37388	B	.	.	2.631431	0.34221	19.57	0.92804273183337616	0.22328	0.06912	0.12938	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999999999999567	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.372554	0.06265	0	.	.	5.07	3.87	0.43823	0.454000	0.21539	8.877000	0.78338	0.651000	0.53179	0.004000	0.16614	1.000000	0.68203	0.557000	0.30341	0.8265:0.0:0.0:0.1735	8.470	0.32139	281	0.88893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	897.98	94	chr11	65780320	.	A	G	897.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.021e+00;DP=838;ExcessHet=0.0000;FS=2.731;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.55;ReadPosRankSum=2.38;SOR=0.446	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1431	20	0	1	0
chr11	65794103	65794103	C	T	exonic	OVOL1	.	nonsynonymous SNV	OVOL1:NM_004561:exon2:c.C173T:p.P58L,	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.688	P	0.06	B	0.774	N	1.000	D	0	N	3.05	T	-0.807	T	0.009	T	0.308	2.768	15.22	4.95	2.297	1.795	13.714	0.086	.	0.0072	0.00299521	0.0070	0.0019	0.0015	0	0.0209	0.0095	0.0044	0.0024	0.0069469	1074	154602	rs138566993	0.0087	0.0087	0.0089	0.0085	0.0097	0.0086	0.0085	0.0095	0.0095	0.0016	0.0020	0.0070	0	0.0187	0.0012	0.0097	0.0073	0.0022	0.0071	0.0071	0.0068	0.0075	0.0095	0.0068	0.0066	0.0089	0.0086	0.0021	0.0175	0.0039	0.0092	0	0.0210	0	0.0095	0.0033	0.0031	0.23	0.18308	T	0.612	0.07642	T	0.688	0.41582	P	0.06	0.26717	B	0.774250	0.09522	N	0.889866	0.997695	0.81001	D	1.12	0.28775	L	3.05	0.08721	T	-1.76	0.41618	N	0.357	0.39861	-0.8067	0.54748	T	0.009	0.03011	T	10	0.0062689483	0.00141	T	.	.	.	0.086	0.25016	.	.	0.268702046668	0.26493	0.2964091917468648	0.29553	0.723791739799	0.62348	0.475216776133	0.35399	T	0.250052	0.62010	T	-0.537676	0.00346	T	-0.535716	0.18720	T	0.0205320315047869	0.00753	T	0.809319	0.45944	T	0.1111093	0.26259	0.076571114	0.16973	0.1111093	0.26259	0.076571114	0.16973	-5.38	0.40726	T	.	.	0.195	0.41602	B	.	.	2.909202	0.38583	20.8	0.98599190064023634	0.43480	0.34389	0.25055	N	AEFDBI	0.189468	0.31672	N	-0.147318238223708	0.35349	2.029263	-0.0220238939359916	0.38722	2.285467	0.99999150197498	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.95	4.95	0.64894	1.045000	0.29951	7.653000	0.63809	0.599000	0.40250	0.003000	0.16062	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	13.714	0.62163	248	0.90287	.	.	.	.	.	rs138566993	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1650.98	34	chr11	65794103	.	C	T	1650.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.870;DP=937;ExcessHet=0.0000;FS=2.113;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=0.398;SOR=0.535	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1366	20	0	1	0
chr11	65850471	65850471	G	A	exonic	SNX32	.	nonsynonymous SNV	SNX32:NM_152760:exon5:c.G415A:p.E139K,	.	.	420	1101	1	0	0	1	0.000453926	.	.	3322703	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	3.08	M	0.77	T	-0.328	T	0.326	T	0.931	4.783	26.9	3.34	1.009	6.243	9.715	0.480	0.014477579159	.	0.000599042	0.0002	9.675e-05	8.673e-05	0	0.0002	6.018e-05	0	0.0013	0.0002135	33	154602	rs549693634	0.0001	0.0001	5.037e-05	0.0002	0.0013	8.915e-05	8.399e-05	0.0011	0.0011	0	0	0	0	0	0.0003	2.068e-05	0.0002	0.0013	8.535e-05	8.53e-05	3.855e-05	0.0001	0.0025	4.953e-05	3.96e-05	0.0014	0.0011	0	0	0	0	0	0	0	1.47e-05	0	0.0025	0.001	0.78490	D	0.006	0.70582	D	1.0	0.90584	D	0.996	0.84481	D	0.000056	0.53742	D	0.000000	0.977931	0.39413	D	2.94	0.84723	M	0.77	0.49642	T	-3.94	0.73378	D	0.899	0.89912	-0.3284	0.74180	T	0.326	0.69479	T	10	0.46164635	0.59321	T	0.014478	0.34624	T	0.480	0.77077	0.844	0.94845	0.415438038341	0.41156	0.6513999234275399	0.65075	0.269893928028	0.29513	0.712870717049	0.69010	T	0.547393	0.84612	D	-0.00823087	0.50512	T	0.190773	0.82612	D	0.430803044109996	0.30090	T	0.990763	0.97171	D	0.87600744	0.89342	0.74246746	0.84777	0.87600744	0.89343	0.74246746	0.84778	-14.19	0.93657	D	.	.	0.897	0.82540	P	.	.	4.604822	0.72972	25.9	0.99907173369530966	0.97726	0.93058	0.57220	D	AEFDGBHCI	0.756991	0.69608	D	0.539376767982428	0.69436	5.356831	0.370351751389081	0.59741	4.154757	0.999999999955386	0.74766	0.713056	0.82018	0	0.550933	0.16991	0	0.608524	0.38960	0	0.666353	0.64628	0	.	.	4.26	3.34	0.37357	7.528000	0.80835	3.803000	0.39877	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.1029:0.0:0.8971:0.0	9.715	0.39436	236	0.90801	Phox homologous domain|Phox homologous domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1666.98	46	chr11	65850471	.	G	A	1666.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=910;ExcessHet=0.0000;FS=0.610;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=0.608;SOR=0.638	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr11	65864799	65864799	T	A	exonic	MUS81	.	nonsynonymous SNV	MUS81:NM_001350283:exon12:c.T1259A:p.L420Q	.	.	.	.	.	.	.	.	.	.	.	2203496	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.992	D	0.000	D	1.000	D	2.97	M	1.98	T	-0.693	T	0.191	T	0.947	4.056	20.8	4.68	1.007	5.380	11.396	0.531	0.112276966369	7.7e-05	.	7.512e-05	0	8.72e-05	0	0	9.11e-05	0	0.0001	6.47e-05	10	154602	rs369437234	2.807e-05	2.873e-05	2.043e-05	3.578e-05	0.0003	2.088e-05	1.879e-05	6.092e-05	2.521e-05	0	4.473e-05	0.0003	0	0	0.0003	1.979e-05	9.937e-05	2.319e-05	1.314e-05	1.313e-05	2.569e-05	0	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	1.72	0.26588	T	-5.43	0.86836	D	0.82	0.81957	-0.6933	0.60754	T	0.191	0.54301	T	10	0.7915462	0.78704	D	0.112277	0.79036	D	0.531	0.80247	.	.	0.781694995975	0.77968	0.7782769532952336	0.77777	0.539398488263	0.51172	0.638493299484	0.58349	T	0.643245	0.89085	D	0.145063	0.68805	D	0.152124	0.80319	D	0.765152037143707	0.44151	D	0.865313	0.56692	D	0.9584632	0.97125	0.8217088	0.89648	0.9584632	0.97126	0.8217088	0.89649	-12.833	0.88663	D	.	.	0.643	0.72540	P	.;.	.;.	4.838313	0.78968	27.0	0.99294931310135481	0.58397	0.94928	0.62818	D	AEFBCI	0.743058	0.68648	D	0.675733812892264	0.78042	6.792642	0.601886626346142	0.75076	6.247	0.999999943704468	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.82	4.68	0.58319	7.136000	0.76885	7.847000	0.70787	0.657000	0.54293	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:0.1517:0.8483	11.396	0.49084	237	0.90758	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1200.98	39	chr11	65864799	.	T	A	1200.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=836;ExcessHet=0.0000;FS=0.908;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.66;ReadPosRankSum=0.675;SOR=0.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,102,1445	20	0	1	0
chr11	65883572	65883572	G	A	exonic	CTSW	.	nonsynonymous SNV	CTSW:NM_001335:exon10:c.G1085A:p.R362H,	.	.	.	.	.	.	.	.	.	.	.	3246349	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.969	D	0.806	P	0.337	N	1.000	N	0.895	L	-0.79	T	-0.744	T	0.318	T	0.302	3.336	17.23	0.271	0.140	-0.048	6.223	0.237	0.0258788413338	.	.	7.416e-05	0	8.637e-05	0	0	8.995e-05	0	0.0001	6.47e-05	10	154602	rs760246700	4.173e-05	4.241e-05	3.812e-05	4.538e-05	0.0007	3.31e-05	3.001e-05	0.0002	0.0001	2.987e-05	4.473e-05	0.0003	0	0	0.0007	3.238e-05	0.0001	2.319e-05	3.944e-05	3.94e-05	2.57e-05	5.383e-05	6.55e-05	1.716e-05	1.13e-05	1.972e-05	1.125e-05	0	0	6.55e-05	0	0	0	0	5.882e-05	0.0005	0	0.323	0.13436	T	0.03	0.54159	D	0.969	0.56768	D	0.806	0.58437	P	0.337371	0.14018	N	0.647331	1	0.19486	N	0.695	0.17993	N	-0.79	0.73739	T	-1.18	0.30140	N	0.223	0.25006	-0.7441	0.58242	T	0.318	0.68744	T	10	0.24328187	0.41539	T	0.025879	0.48826	D	0.237	0.54074	0.574	0.69826	0.691303702142	0.68865	0.5949632909665622	0.59426	0.0898432174179	0.10143	0.276976495981	0.07074	T	0.147844	0.48612	T	-0.238813	0.15499	T	-0.389132	0.34653	T	0.214769408106804	0.21200	T	0.613539	0.23382	T	0.03248062	0.03282	0.03513442	0.02707	0.03248062	0.03281	0.03513442	0.02707	-4.552	0.31563	T	.	.	0.128	0.27192	B	.	.	2.071850	0.26345	17.09	0.99740129504231712	0.83409	0.05318	0.11169	N	AEFGBI	0.142588	0.26507	N	-0.4114688664884	0.25066	1.357997	-0.593902567601813	0.19651	1.055304	0.999852595158402	0.44174	0.460665	0.09802	0	0.577304	0.33150	0	0.572659	0.19721	0	0.491896	0.07777	0	.	.	5.18	0.271	0.14894	-0.045000	0.11957	0.008000	0.13396	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.040000	0.14268	0.0965:0.0:0.3491:0.5544	6.223	0.19907	239	0.90673	Peptidase C1A, papain C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1064.98	33	chr11	65883572	.	G	A	1064.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.920e-01;DP=854;ExcessHet=0.0000;FS=2.626;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=-1.334e+00;SOR=0.466	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr11	66020351	66020351	G	A	exonic	CATSPER1	.	nonsynonymous SNV	CATSPER1:NM_053054:exon8:c.C2030T:p.A677V,	Spermatogenic failure 7, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.937	P	0.433	B	0.006	U	0.897	N	1.04	L	-4.36	D	0.318	D	0.776	D	0.216	2.846	15.48	3.09	2.391	3.163	5.935	0.408	0.173412364556	.	.	4.12e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs773724360	1.026e-05	1.026e-05	2.723e-06	1.788e-05	0.0001	6.16e-06	4.89e-06	7.123e-05	5.481e-05	0	4.472e-05	0	0	0	0	1.799e-06	0	0.0001	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.04	0.42199	D	0.163	0.31125	T	0.937	0.52445	P	0.433	0.45477	B	0.006427	0.32040	U	0.000000	0.897189	0.27771	N	2.015	0.55033	M	-4.36	0.97317	D	-2.31	0.51319	N	0.243	0.27435	0.318	0.87835	D	0.776	0.92384	D	10	0.36417174	0.52969	T	0.173412	0.85011	D	0.408	0.72022	.	.	0.977750182443	0.97750	0.5289204530791524	0.52816	0.837158818036	0.67860	0.45185482502	0.32197	T	0.618915	0.88027	D	-0.092142	0.37721	T	-0.110453	0.62575	T	0.368849635124207	0.27753	T	0.735226	0.35154	T	0.12294356	0.28878	0.17087056	0.39228	0.12294356	0.28878	0.17087056	0.39228	-6.576	0.50869	T	.	.	0.231	0.46401	B	.	.	4.215206	0.63719	24.6	0.99904775721894745	0.97576	0.68210	0.33716	D	AEFDGBI	0.177026	0.30425	N	0.143526250410326	0.48507	3.062024	0.141130551278349	0.46675	2.909596	0.99999689603135	0.74766	0.600919	0.35232	0	0.610034	0.51514	0	0.547309	0.15389	0	0.620204	0.46100	0	.	.	5.14	3.09	0.34677	3.218000	0.50894	8.379000	0.77063	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.380000	0.26335	0.0994:0.0:0.712:0.1886	5.935	0.18398	207	0.91931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1314.98	38	chr11	66020351	.	G	A	1314.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.990e-01;DP=1004;ExcessHet=0.0000;FS=1.560;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=-7.720e-01;SOR=0.513	GT:AD:DP:GQ:PL	0/0:66,0:66:99:0,120,1800	20	0	1	0
chr11	66043162	66043162	T	A	exonic	GAL3ST3	.	nonsynonymous SNV	GAL3ST3:NM_033036:exon3:c.A641T:p.E214V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.918	P	0.604	P	0.000	D	1.000	D	1.34	L	2.34	T	-1.146	T	0.051	T	0.246	3.965	20.3	4.51	1.800	5.065	12.099	0.085	0.0301918597068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.14	0.33554	T	0.918	0.50838	P	0.604	0.50922	P	0.000082	0.51296	D	0.090432	0.99958	0.47691	D	1.675	0.43121	L	2.34	0.16351	T	-2.63	0.56466	D	0.135	0.19728	-1.1457	0.01159	T	0.051	0.21883	T	10	0.28215906	0.45793	T	0.030192	0.52551	D	0.085	0.24743	0.434	0.48500	0.576146575425	0.57282	0.7041189549668719	0.70353	1.67543599293	0.89921	0.729408562183	0.71419	T	0.011988	0.10611	T	-0.173835	0.24656	T	-0.487479	0.23655	T	0.981696248054504	0.74058	D	0.713629	0.32527	T	0.39131463	0.60125	0.24809694	0.50354	0.39131463	0.60126	0.24809694	0.50353	-3.831	0.21268	T	.	.	0.657	0.71221	P	.;.	.;.	4.303885	0.65734	24.9	0.98988377576585085	0.49882	0.99061	0.90654	D	AEFDGBHCI	0.679008	0.64318	D	0.339300806915904	0.58177	3.988516	0.354996453620849	0.58809	4.053879	0.999999999834287	0.74766	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	4.51	4.51	0.54589	4.957000	0.63358	4.153000	0.42161	0.657000	0.54293	1.000000	0.71638	1.000000	0.68203	0.714000	0.34579	0.0:0.0:0.0:1.0	12.099	0.53072	199	0.92292	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1026.98	48	chr11	66043162	.	T	A	1026.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.500e-02;DP=853;ExcessHet=0.0000;FS=2.590;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.07;ReadPosRankSum=0.653;SOR=0.768	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,987	20	0	1	0
chr11	66052418	66052418	G	C	exonic	SF3B2	.	nonsynonymous SNV	SF3B2:NM_006842:exon1:c.G34C:p.E12Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.516	P	0.188	B	0.000	D	0.559	N	0	N	.	.	-0.952	T	0.062	T	0.26	4.183	21.7	5.09	2.804	4.561	14.193	0.182	0.00639592384601	.	.	8.48e-06	0	0	0	0	0	0	6.081e-05	6.5e-06	1	154602	rs770902372	6.846e-07	6.84e-07	0	1.376e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.016	0.60972	D	0.155	0.37437	B	0.064	0.36237	B	0.000022	0.55875	D	0.066998	0.558806	0.31274	N	0	0.06538	N	.	.	.	-0.45	0.37566	N	0.378	0.42443	-0.9519	0.40643	T	0.062	0.25958	T	9	0.21353737	0.37848	T	0.006396	0.16812	T	0.182	0.45420	0.099	0.01433	0.29966067498	0.29572	0.36835568587972933	0.36749	0.755709929242	0.64003	0.705034375191	0.67872	T	0.011866	0.28472	T	-0.113986	0.34111	T	-0.30088	0.44632	T	0.60858313703083	0.36743	D	0.908709	0.67605	D	0.49291757	0.66676	0.5018084	0.71200	0.49291757	0.66677	0.5018084	0.71200	-3.916	0.22542	T	.	.	0.140	0.44410	B	.;.;.;.;.	.;.;.;.;.	3.791441	0.54572	23.5	0.99527853208015127	0.69653	0.94009	0.59839	D	AEFGBHCIJ	0.666495	0.63494	D	0.0378392263819865	0.43585	2.648469	0.209522232028352	0.50375	3.230215	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.09	5.09	0.68647	4.964000	0.63410	11.832000	0.97554	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0:0.0:1.0:0.0	14.193	0.65190	199	0.92292	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	685.98	34	chr11	66052418	.	G	C	685.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.681;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.72;ReadPosRankSum=-6.390e-01;SOR=0.748	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1115	20	0	1	0
chr11	66052460	66052460	G	T	exonic	SF3B2	.	nonsynonymous SNV	SF3B2:NM_006842:exon1:c.G76T:p.A26S,	.	.	401	1104	13	4	0	21	0.00942127	.	.	701898	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.102	B	0.032	B	0.000	N	0.532	D	0	N	.	.	-0.987	T	0.049	T	0.39	4.981	29.1	4.16	1.465	2.782	10.838	0.053	.	0.0061	0.00319489	0.0067	0.0019	0.0029	0	0.0008	0.0105	0.0045	0.0031	0.0066558	1029	154602	rs11554199	0.0080	0.0080	0.0079	0.0080	0.0114	0.0078	0.0078	0.0092	0.0087	0.0016	0.0040	0.0243	5.04e-05	0.0014	0.0114	0.0089	0.0080	0.0029	0.0062	0.0062	0.0064	0.0059	0.0095	0.0058	0.0057	0.0089	0.0086	0.0014	0.0011	0.0073	0.0253	0	0.0008	0.0034	0.0095	0.0033	0.0031	0.011	0.57480	D	0.209	0.26798	T	0.102	0.25827	B	0.032	0.22131	B	0.000012	0.62929	N	0.113619	0.531941	0.31982	D	0.695	0.17993	N	.	.	.	-0.1	0.21429	N	0.331	0.37197	-0.9865	0.33469	T	0.049	0.20908	T	9	0.007796645	0.00177	T	.	.	.	0.053	0.14996	.	.	0.462259749948	0.45850	0.25784480060685094	0.25698	0.408431882376	0.41683	0.585962891579	0.50926	T	0.011268	0.30031	T	-0.343567	0.05145	T	-0.25461	0.49361	T	0.0435647871220627	0.04341	T	0.89491	0.63503	D	0.21293293	0.43659	0.31694704	0.57673	0.3075887	0.53577	0.31694704	0.57672	-2.965	0.09809	T	.	.	0.080	0.15654	B	.;.;.;.;.	.;.;.;.;.	3.839874	0.55556	23.6	0.99741221174329819	0.83482	0.63868	0.32224	D	ALL	0.376391	0.46055	N	-0.213324206368291	0.32586	1.839328	-0.0181795085978144	0.38895	2.298088	0.999999999999935	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.09	4.16	0.48138	3.057000	0.49624	8.554000	0.77540	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8116:0.1884	10.838	0.45905	199	0.92292	SAP domain|SAP domain|SAP domain;SAP domain|SAP domain|SAP domain;SAP domain|SAP domain|SAP domain;SAP domain|SAP domain|SAP domain;SAP domain|SAP domain|SAP domain	.	.	.	.	rs11554199	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025	551.33	34	chr11	66052460	.	G	T	551.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-4.290e-01;DP=756;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=0.322;SOR=0.807	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1115	19	0	1	1
chr11	66239153	66239153	G	A	exonic	PACS1	.	nonsynonymous SNV	PACS1:NM_018026:exon21:c.G2305A:p.D769N,	Schuurs-Hoeijmakers syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1688974	not_provided|Schuurs-Hoeijmakers_syndrome	MedGen:C3661900|MONDO:MONDO:0014006,MedGen:C3554343,OMIM:615009,Orphanet:329224	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.11	T	0.989	D	0.818	P	0.000	D	1.000	D	1.845	L	0.63	T	-0.711	T	0.231	T	0.272	3.653	18.57	5.07	2.531	8.189	17.634	0.310	0.0662474719995	.	.	8.237e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs751638632	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.63226	T	0.003	0.76473	D	0.989	0.62824	D	0.818	0.58969	P	0.000001	0.84330	D	0.057485	0.999999	0.58761	D	2.325	0.66631	M	0.63	0.53088	T	-4.32	0.76655	D	0.286	0.35938	-0.7114	0.59884	T	0.231	0.59707	T	10	0.22627988	0.39479	T	0.066247	0.69818	D	0.310	0.63162	0.374	0.38667	0.2419029386	0.23804	0.3556903415445146	0.35483	1.81973249962	0.91917	0.473407864571	0.35150	T	0.207446	0.56708	T	-0.12287	0.32655	T	-0.317417	0.42857	T	0.986259996891022	0.77021	D	0.871813	0.57812	D	0.359772	0.57819	0.28033513	0.54008	0.359772	0.57819	0.28033513	0.54007	-9.043	0.67974	D	0.4055546521572407	0.49670	0.202	0.42578	B	.;.	.;.	4.552736	0.71668	25.7	0.99818364554096906	0.90150	0.99389	0.95397	D	AEFDGBI	0.845123	0.76205	D	0.543181750101794	0.69668	5.389757	0.482113931971125	0.66807	5.000183	0.999999999800575	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.07	5.07	0.68106	8.399000	0.90081	11.702000	0.94515	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.616000	0.31793	0.0:0.0:1.0:0.0	17.634	0.88019	113	0.95418	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2549.98	35	chr11	66239153	.	G	A	2549.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.800e-02;DP=928;ExcessHet=0.0000;FS=1.038;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=-2.082e+00;SOR=0.776	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1337	20	0	1	0
chr11	66294475	66294475	G	A	exonic	TMEM151A	.	nonsynonymous SNV	TMEM151A:NM_153266:exon2:c.G229A:p.A77T,	.	.	422	1075	24	1	0	26	0.0119485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.201	B	0.021	B	0.002	N	0.989	D	0.69	N	.	.	-1.089	T	0.060	T	0.197	-0.799	0.678	2.83	0.600	6.114	9.795	0.094	0.0159965288774	0.0012	0.000399361	0.0017	0.0001	0.0022	0	0.0004	0.0025	0.0029	0.0006	0.001313	203	154602	rs202127682	0.0014	0.0014	0.0013	0.0015	0.0085	0.0013	0.0013	0.0066	0.0060	0.0002	0.0019	0.0069	0	7.755e-05	0.0085	0.0014	0.0020	0.0005	0.0012	0.0012	0.0014	0.0010	0.0015	0.0010	0.0010	0.0013	0.0012	0.0002	0	0.0014	0.0078	0	0.0002	0.0137	0.0015	0.0047	0.0006	0.599	0.05652	T	0.484	0.11760	T	0.201	0.29693	B	0.021	0.19346	B	0.001876	0.37789	N	0.164918	0.988732	0.40818	D	0.895	0.22405	L	.	.	.	0.7	0.02163	N	0.158	0.16447	-1.0893	0.05650	T	0.060	0.25200	T	9	0.006064296	0.00136	T	0.015997	0.37036	T	0.094	0.27141	.	.	0.043077524339	0.03247	0.5628537279553625	0.56212	.	.	0.697946429253	0.66848	T	0.002676	0.02065	T	-0.466581	0.00893	T	-0.449155	0.27790	T	0.00303895006801984	0.00032	T	0.533947	0.17813	T	0.02264007	0.00941	0.055863645	0.09879	0.02264007	0.00941	0.055863645	0.09878	-5.773	0.44338	T	.	.	0.083	0.09143	B	.	.	2.899794	0.38433	20.7	0.81313325403504977	0.13624	0.98346	0.81852	D	AEFDGBI	0.555136	0.56570	D	-0.594696526936147	0.19104	0.997296	-0.51024337533845	0.21875	1.185445	0.999983762213022	0.51787	0.700653	0.57754	0	0.59043	0.45803	0	0.717052	0.78885	0	0.562822	0.20929	0	.	.	4.69	2.83	0.32150	3.955000	0.56422	9.198000	0.79167	-0.137000	0.12594	1.000000	0.71638	1.000000	0.68203	0.141000	0.19983	0.1709:0.0:0.8291:0.0	9.795	0.39898	91	0.96221	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1045.98	33	chr11	66294475	.	G	A	1045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=842;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.44;ReadPosRankSum=0.940;SOR=0.630	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr11	66295417	66295417	C	T	exonic	TMEM151A	.	nonsynonymous SNV	TMEM151A:NM_153266:exon2:c.C1171T:p.P391S,	.	.	423	1088	11	0	0	11	0.00502972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.84	T	0.001	B	0.007	B	0.000	D	0.628	D	0	N	.	.	-1.018	T	0.049	T	0.109	0.019	4.114	3.87	2.002	5.453	5.829	0.082	.	0.0003	.	0.0076	0	0	0	0	0.0320	0.0135	0.0002	0.0007568	117	154602	rs373152395	0.0015	0.0015	0.0014	0.0016	0.0053	0.0014	0.0014	0.0035	0.0030	0.0003	0.0009	0.0441	0	2.145e-05	0.0053	0.0007	0.0040	0.0004	0.0016	0.0016	0.0018	0.0014	0.0012	0.0014	0.0014	0.0008	0.0007	0.0001	0	0.0012	0.0428	0	0	0.0103	0.0008	0.0057	0.0004	1.0	0.00964	T	0.791	0.04181	T	0.001	0.07471	B	0.007	0.12992	B	0.000096	0.51296	D	0.080949	0.628332	0.32767	D	-1.545	0.00469	N	.	.	.	0.52	0.02853	N	0.039	0.01274	-1.0178	0.24431	T	0.049	0.21065	T	9	0.0018358827	0.00025	T	.	.	.	0.082	0.23913	.	.	0.043077524339	0.03247	0.2910298125544627	0.29015	.	.	0.801923394203	0.82255	T	0.003866	0.03272	T	-0.524435	0.00414	T	-0.566624	0.15760	T	0.00780754122038952	0.00091	T	0.60024	0.22396	T	0.05096164	0.09288	0.08535057	0.19699	0.05096164	0.09287	0.08535057	0.19699	-3.672	0.18905	T	.	.	0.070	0.03625	B	.	.	1.608451	0.20553	14.80	0.60321797752222273	0.06435	0.94879	0.62647	D	AEFDBI	0.142096	0.26445	N	-0.429916054685299	0.24426	1.318801	-0.235570229536928	0.30272	1.703003	0.992884438820962	0.33004	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	3.87	3.87	0.43823	2.878000	0.48213	3.796000	0.39849	0.499000	0.22661	1.000000	0.71638	0.999000	0.35428	0.915000	0.45038	0.0:0.7788:0.0:0.2212	5.829	0.17824	91	0.96221	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	344.98	29	chr11	66295417	.	C	T	344.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=591;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.37;ReadPosRankSum=0.462;SOR=0.693	GT:AD:DP:GQ:PL	0/0:19,0:19:42:0,42,630	20	0	1	0
chr11	66316120	66316120	G	A	exonic	CD248	.	nonsynonymous SNV	CD248:NM_020404:exon1:c.C908T:p.A303V,	.	.	422	1083	16	1	0	18	0.00824176	.	.	701914	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.957	D	0.126	B	0.842	N	1.000	N	0.425	N	-2.22	D	-0.740	T	0.249	T	0.443	0.301	5.630	3.25	0.968	1.314	5.075	0.240	0.0579294218111	0.0061	0.00179712	0.0064	0.0011	0.0061	0	0.0057	0.0092	0.0069	0.0028	0.0064812	1002	154602	rs150281243	0.0079	0.0079	0.0081	0.0078	0.0135	0.0078	0.0078	0.0111	0.0102	0.0016	0.0066	0.0137	0.0001	0.0069	0.0135	0.0088	0.0070	0.0021	0.0061	0.0061	0.0063	0.0059	0.0095	0.0058	0.0057	0.0089	0.0086	0.0019	0.0022	0.0063	0.0098	0.0002	0.0047	0.0136	0.0095	0.0085	0.0010	0.054	0.38633	T	0.506	0.10967	T	0.957	0.54824	D	0.126	0.32692	B	0.841754	0.09028	N	0.919175	1	0.08975	N	0.245	0.09735	N	-2.22	0.87038	D	-1.0	0.26422	N	0.126	0.11912	-0.7401	0.58447	T	0.249	0.61889	T	10	0.0043057203	0.00087	T	0.057929	0.67141	D	0.240	0.54500	.	.	0.7988336948	0.79696	0.6547702050889866	0.65413	0.423427627327	0.42804	0.449543058872	0.31881	T	0.077354	0.35636	T	-0.305041	0.08192	T	-0.201551	0.54499	T	0.0101192628221887	0.00136	T	0.567243	0.20104	T	0.052591223	0.09831	0.06954251	0.14664	0.052591223	0.09831	0.06954251	0.14664	-8.076	0.61587	D	.	.	0.191	0.40984	B	.	.	2.621581	0.34067	19.52	0.98622802842898982	0.43798	0.05165	0.10981	N	AEFDGBCI	0.063403	0.12250	N	-0.53660306398575	0.20905	1.105547	-0.609376047189201	0.19252	1.032101	0.999996709359862	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.530356	0.10902	0	.	.	4.17	3.25	0.36363	0.770000	0.26280	9.790000	0.81641	0.676000	0.76740	0.000000	0.06391	1.000000	0.68203	0.450000	0.27895	0.1088:0.0:0.6862:0.205	5.075	0.13961	86	0.96395	EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	5679.11	46	chr11	66316120	.	G	A	5679.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.348;DP=1311;ExcessHet=0.1072;FS=2.443;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=1.69;SOR=0.658	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	19	0	2	0
chr11	66336090	66336090	G	A	exonic	RIN1	.	nonsynonymous SNV	RIN1:NM_001363559:exon2:c.C71T:p.P24L	.	.	410	1105	7	0	0	7	0.00315742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.982	D	0.003	N	1.000	D	1.15	L	2.94	T	-1.143	T	0.046	T	0.298	2.299	13.65	3.34	1.894	6.293	10.357	0.183	.	0.0002	0.000798722	0.0109	0	0	0	0	0.0029	0	0.0247	0.0007697	119	154602	rs371199660	0.0050	0.0047	0.0049	0.0050	0.0055	0.0049	0.0048	0.0054	0.0053	0.0007	0.0008	0.0006	2.903e-05	0.0064	0.0015	0.0055	0.0028	0.0053	0.0034	0.0034	0.0032	0.0036	0.0052	0.0032	0.0031	0.0048	0.0046	0.0007	0	0.0014	0.0006	0	0.0090	0	0.0052	0.0005	0.0033	0.111	0.29029	T	0.012	0.63918	D	1.0	0.90584	D	0.982	0.75477	D	0.003226	0.35241	N	0.110360	0.999557	0.81001	D	1.64	0.41913	L	2.94	0.09728	T	0.35	0.03761	N	0.396	0.43706	-1.1432	0.01243	T	0.046	0.19879	T	9	0.0075613856	0.00172	T	.	.	.	0.183	0.45592	.	.	0.399596177874	0.39575	0.3802928041414899	0.37944	0.256483883154	0.28223	0.664591312408	0.62065	T	0.214839	0.57654	T	-0.51843	0.00449	T	-0.516236	0.20678	T	0.0472703351430132	0.05014	T	0.80082	0.44648	T	0.053354707	0.10085	0.10070237	0.24085	0.053354707	0.10084	0.10070237	0.24085	-3.717	0.19569	T	.	.	0.097	0.15877	B	.	.	3.521967	0.49371	22.8	0.99394596498635646	0.62519	0.57728	0.30453	D	AEFDGBCIJ	0.732977	0.67956	D	0.122161023152091	0.47497	2.974699	-0.0274430851574767	0.38479	2.267707	0.999999999999094	0.74766	0.455138	0.09556	0	0.48864	0.07623	0	0.606884	0.38211	0	0.581474	0.35302	0	.	.	3.34	3.34	0.37357	2.598000	0.45887	8.295000	0.76923	0.676000	0.76740	0.397000	0.26145	1.000000	0.68203	0.002000	0.04165	0.0:0.0:1.0:0.0	10.357	0.43154	63	0.97314	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	685.98	41	chr11	66336090	.	G	A	685.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=759;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.73;ReadPosRankSum=1.56;SOR=0.650	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr11	66369490	66369490	T	C	exonic	SLC29A2	.	nonsynonymous SNV	SLC29A2:NM_001532:exon3:c.A154G:p.R52G	.	.	392	1117	13	0	0	13	0.00578549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.0	B	0.0	B	0.130	N	1.000	N	0.55	N	1.97	T	-1.017	T	0.034	T	0.071	0.766	8.052	2.87	0.396	0.254	4.211	0.022	.	0.0017	0.00539137	0.0045	0.0004	0.0007	0.0001	0.0009	0.0022	0.0067	0.0222	0.0038809	600	154602	rs146937376	0.0031	0.0031	0.0025	0.0037	0.0204	0.0030	0.0030	0.0196	0.0193	0.0004	0.0010	0.0091	0	0.0010	0.0026	0.0020	0.0036	0.0204	0.0021	0.0021	0.0019	0.0022	0.0157	0.0019	0.0018	0.0129	0.0118	0.0007	0	0.0011	0.0063	0.0002	0.0012	0.0034	0.0023	0.0014	0.0157	0.407	0.11478	T	0.398	0.16037	T	0.0	0.02946	B	0.0	0.01387	B	0.129712	0.02798	N	2.198090	1	0.08975	N	-1.11	0.00959	N	1.97	0.22067	T	0.12	0.06138	N	0.035	0.02559	-1.0169	0.24722	T	0.034	0.14726	T	10	0.0034039617	0.00060	T	.	.	.	0.022	0.04323	.	.	0.202086224978	0.19791	0.32415622875043315	0.32328	0.15498725264	0.17506	0.286808758974	0.08459	T	0.002013	0.37112	T	-0.691046	0.00041	T	-0.74916	0.03518	T	0.000969181622218029	0.00009	T	0.545245	0.18642	T	0.040499426	0.05791	0.033491585	0.02253	0.040499426	0.05790	0.033491585	0.02252	-2.603	0.06526	T	.	.	0.044	0.00045	B	.;.;.;.;.	.;.;.;.;.	0.513562	0.08826	5.602	0.62565808386946475	0.06995	0.00829	0.03338	N	AEFDGBHCI	0.027466	0.02249	N	-0.988102682698959	0.08857	0.4169128	-0.9732708604488	0.10388	0.5228717	0.999999890634199	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	4.85	2.87	0.32523	-0.048000	0.11898	-0.006000	0.13130	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.0:0.5806:0.1889:0.2306	4.211	0.09968	61	0.97388	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	760.98	38	chr11	66369490	.	T	C	760.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.413e+00;DP=841;ExcessHet=0.0000;FS=2.727;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.93;ReadPosRankSum=-3.710e-01;SOR=1.002	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	20	0	1	0
chr11	66475677	66475677	C	T	exonic	PELI3	.	nonsynonymous SNV	PELI3:NM_001243136:exon6:c.C599T:p.A200V	.	.	425	1093	4	0	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.769	P	0.322	B	0.007	N	1.000	D	0.895	L	0.92	T	-1.085	T	0.058	T	0.331	3.141	16.50	4.9	2.560	1.300	10.64	0.039	.	0.0036	0.00139776	0.0045	0.0016	0.0004	0	0.0208	0.0054	0.0047	0.0012	0.0041203	637	154602	rs145732233	0.0047	0.0047	0.0047	0.0046	0.0048	0.0046	0.0045	0.0047	0.0046	0.0005	0.0009	0.0015	0	0.0201	0.0007	0.0048	0.0038	0.0013	0.0042	0.0042	0.0039	0.0045	0.0055	0.0039	0.0038	0.0050	0.0048	0.0008	0	0.0013	0.0009	0	0.0186	0	0.0055	0.0028	0.0008	0.056	0.38185	T	0.141	0.33442	T	0.727	0.43848	P	0.145	0.41795	B	0.007043	0.31632	N	0.259745	0.984128	0.40103	D	1.245	0.31408	L	0.92	0.44461	T	-1.12	0.28906	N	0.103	0.23884	-1.0849	0.06426	T	0.058	0.24502	T	10	0.010930598	0.00241	T	.	.	.	0.039	0.10176	.	.	0.583271498735	0.57999	0.4810572397729619	0.48025	0.83421735577	0.67749	0.61224091053	0.54633	T	0.02869	0.20727	T	-0.472264	0.00823	T	-0.441756	0.28612	T	0.00885535528896873	0.00110	T	0.931507	0.74506	D	0.073516704	0.16433	0.09990103	0.23868	0.073516704	0.16432	0.09990103	0.23867	-7.275	0.58087	T	.	.	0.104	0.20196	B	.;.;.;.	.;.;.;.	4.500916	0.70397	25.5	0.99881846269505992	0.95813	0.64791	0.32522	D	AEFDBHCI	0.236132	0.35863	N	0.0472934403333761	0.44017	2.683598	0.10759202702841	0.44934	2.765843	0.999999781536556	0.74766	0.660377	0.49826	0	0.588066	0.40923	0	0.645312	0.48771	0	0.592323	0.36904	0	.	.	4.9	4.9	0.63643	2.245000	0.42784	4.881000	0.45666	0.599000	0.40250	0.960000	0.33603	1.000000	0.68203	0.898000	0.43474	0.1911:0.8089:0.0:0.0	10.64	0.44780	60	0.97424	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1970.98	35	chr11	66475677	.	C	T	1970.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.943e+00;DP=827;ExcessHet=0.0000;FS=1.484;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.89;ReadPosRankSum=1.30;SOR=0.727	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1130	20	0	1	0
chr11	66555204	66555204	G	A	exonic	ACTN3	.	nonsynonymous SNV	ACTN3:NM_001104:exon6:c.G632A:p.R211Q	.	.	48	1464	9	1	0	11	0.00374277	.	.	3210751	ACTN3-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.00798722	0.0056	0.0013	0.0005	0.0001	0	3e-05	0.0033	0.0393	0.0047994	742	154602	rs200452235	0.0024	0.0024	0.0014	0.0035	0.0377	0.0024	0.0024	0.0366	0.0361	0.0017	0.0002	0	0	3.745e-05	0.0019	8.184e-05	0.0026	0.0377	0.0019	0.0019	0.0013	0.0024	0.0406	0.0017	0.0016	0.0359	0.0341	0.0018	0	6.554e-05	0	0.0004	0	0	0.0001	0.0009	0.0406	.	.	.	0.424	0.24054	T	0.944	0.53183	P	0.752	0.56092	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.697	0.70175	.	.	.	.	.	.	.	0.010115027	0.00226	T	.	.	.	.	.	.	.	0.409533910539	0.40566	0.498815319218225	0.49802	.	.	0.53263258934	0.43405	T	0.303172	0.88914	T	-0.0605291	0.42826	T	0.168846	0.81342	D	.	.	.	0.931907	0.74605	D	0.35212743	0.57232	0.3293539	0.58815	0.35212743	0.57232	0.3293539	0.58814	-6.781	0.52418	T	.	.	0.083	0.12938	B	.;.	.;.	4.580915	0.72362	25.8	0.99885112663059028	0.96049	0.70489	0.34611	D	AEFBI	0.585410	0.58385	D	.	.	.	.	.	.	0.999986212798643	0.51787	0.252514	0.04256	0	0.097471	0.02872	0	0.295636	0.05589	0	0.058706	0.01089	0	.	.	4.55	4.55	0.55429	4.256000	0.58601	5.909000	0.50995	0.676000	0.76740	0.983000	0.35670	1.000000	0.68203	0.222000	0.22517	0.0:0.0:1.0:0.0	14.867	0.70064	59	0.97452	Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain;Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	6362.11	34	chr11	66555204	.	G	A	6362.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.98;DP=1211;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=0.046;SOR=0.669	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	19	0	2	0
chr11	66558138	66558138	C	T	exonic	ACTN3	.	nonsynonymous SNV	ACTN3:NM_001104:exon11:c.C1240T:p.R414W	.	.	165	1341	16	0	0	16	0.00593032	.	.	2362859	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	.	0.0005	0.0002	0.0009	0	0	0.0006	0.0023	0	0.0004204	65	154602	rs200842599	0.0004	0.0004	0.0004	0.0004	0.0232	0.0004	0.0004	0.0200	0.0188	0.0006	0.0009	0.0010	0	7.52e-05	0.0232	0.0002	0.0008	0.0003	0.0004	0.0004	0.0004	0.0004	0.0005	0.0003	0.0003	0.0004	0.0003	0.0004	0	0.0003	0.0012	0	9.409e-05	0.0068	0.0005	0.0009	0	.	.	.	0.002	0.79402	D	0.995	0.67487	D	0.923	0.65830	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.494	0.52740	.	.	.	.	.	.	.	0.1524519	0.28795	T	.	.	.	.	.	.	.	0.516659694907	0.51310	0.38647573696586046	0.38562	.	.	0.240386456251	0.02826	T	0.488653	0.81420	T	-0.199188	0.20923	T	-0.118088	0.61959	T	.	.	.	0.992809	0.97620	D	0.38672286	0.59799	0.48722872	0.70325	0.38672286	0.59799	0.48722872	0.70326	-11.918	0.84448	D	.	.	0.092	0.16756	B	.;.	.;.	4.872913	0.79845	27.2	0.99926693476811113	0.99103	0.92654	0.56222	D	AEFDBI	0.820310	0.74112	D	.	.	.	.	.	.	0.170125893884794	0.17722	0.359288	0.05646	0	0.116231	0.03378	0	0.373304	0.06000	0	0.091162	0.02695	0	.	.	4.97	4.97	0.65419	1.879000	0.39253	2.743000	0.34477	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1888:0.8111:0.0:0.0	10.778	0.45563	59	0.97452	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1183.98	35	chr11	66558138	.	C	T	1183.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.27;DP=774;ExcessHet=0.0000;FS=2.554;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.94;ReadPosRankSum=0.402;SOR=0.361	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1414	20	0	1	0
chr11	66561293	66561293	G	A	exonic	ACTN3	.	nonsynonymous SNV	ACTN3:NM_001104:exon16:c.G1927A:p.E643K	.	.	237	1284	1	0	0	1	0.000389257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	5.578e-05	0	0	0.0002	0	7.738e-05	0	0	5.82e-05	9	154602	rs557418428	7.278e-05	7.319e-05	7.374e-05	7.181e-05	0.0002	6.137e-05	5.721e-05	7.409e-05	6.807e-05	5.994e-05	0	0	2.53e-05	0	0.0002	8.826e-05	3.327e-05	2.347e-05	5.251e-05	5.905e-05	5.138e-05	5.368e-05	0.0002	2.555e-05	1.828e-05	1.972e-05	1.124e-05	7.213e-05	0	0	0	0	0	0	5.879e-05	0	0.0002	.	.	.	0.005	0.74150	D	0.995	0.67487	D	0.743	0.55802	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.671	0.73375	.	.	.	.	.	.	.	0.6200889	0.67927	D	.	.	.	.	.	.	.	0.669723723437	0.66693	0.6276141658004456	0.62694	.	.	0.640206933022	0.58594	T	0.380342	0.74290	T	0.491028	0.94037	D	0.650319	0.98080	D	.	.	.	0.995613	0.98457	D	0.2243752	0.45078	0.4804833	0.69913	0.2243752	0.45078	0.4804833	0.69913	-12.273	0.86155	D	.	.	0.583	0.68326	P	.;.	.;.	4.823355	0.78580	26.9	0.99935275793503442	0.99579	0.98742	0.86270	D	AEFDGBI	0.945476	0.95383	D	.	.	.	.	.	.	0.99999998978442	0.74766	0.256867	0.04430	0	0.060609	0.00678	0	0.320204	0.05785	0	0.062806	0.01542	0	.	.	4.64	4.64	0.57399	10.003000	0.99689	9.944000	0.82678	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	15.041	0.71452	59	0.97452	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	994.98	90	chr11	66561293	.	G	A	994.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.26;DP=1699;ExcessHet=0.0000;FS=0.807;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=1.34;SOR=0.588	GT:AD:DP:GQ:PL	0/0:99,0:99:99:0,120,1800	20	0	1	0
chr11	66564636	66564636	C	T	exonic	CTSF	.	nonsynonymous SNV	CTSF:NM_003793:exon11:c.G1243A:p.G415R,	Ceroid lipofuscinosis, neuronal, 13, Kufs type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1427001	Neuronal_ceroid_lipofuscinosis_13|Inborn_genetic_diseases	MONDO:MONDO:0014147,MedGen:C3715049,OMIM:615362,Orphanet:352709,Orphanet:79262|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	4.155	H	-3.41	D	0.578	D	0.632	D	0.909	4.433	23.6	4.32	2.247	6.197	14.365	0.306	0.432236889033	.	0.000199681	0.0001	0	0.0006	0	0	0.0001	0	8.735e-05	7.76e-05	12	154602	rs200426008	2.196e-05	2.189e-05	1.774e-05	2.623e-05	0.0002	1.589e-05	1.36e-05	8.988e-05	6.518e-05	0	0.0002	0.0002	0	0	0	1.442e-05	4.988e-05	1.169e-05	6.568e-05	6.562e-05	5.14e-05	8.061e-05	0.0004	3.515e-05	2.615e-05	0.0002	0.0001	2.407e-05	0	0.0004	0.0003	0	0	0	1.471e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.38	0.98579	H	-3.41	0.94306	D	-7.94	0.96294	D	0.974	0.98466	0.578	0.91603	D	0.632	0.87102	D	10	0.9689919	0.96447	D	0.432237	0.94004	D	0.916	0.97814	0.906	0.98027	0.949938693277	0.94941	0.9397367826506339	0.93954	0.891413311981	0.70245	0.520286142826	0.41667	T	0.927596	0.98751	D	0.326008	0.84893	D	0.499811	0.94627	D	0.996051371097565	0.88579	D	0.985401	0.94968	D	0.9293659	0.94174	0.86813647	0.92737	0.9293659	0.94175	0.86813647	0.92737	-13.764	0.92265	D	0.8171741704782416	0.89094	0.894	0.82375	P	.	.	6.523177	0.95346	34	0.9989704437024105	0.96971	0.98847	0.87641	D	AEFBI	0.766127	0.70240	D	0.559136708225321	0.70640	5.531363	0.50188893158437	0.68117	5.17608	0.999999838298634	0.74766	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	4.32	4.32	0.50899	6.380000	0.73090	7.568000	0.60641	0.587000	0.30956	0.997000	0.40164	1.000000	0.68203	0.906000	0.44173	0.0:1.0:0.0:0.0	14.365	0.66362	59	0.97452	Peptidase C1A, papain C-terminal|Peptidase C1A, papain C-terminal|Papain-like cysteine endopeptidase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1893.98	35	chr11	66564636	.	C	T	1893.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.747;DP=865;ExcessHet=0.0000;FS=5.666;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=-9.120e-01;SOR=0.642	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1380	20	0	1	0
chr11	66591701	66591701	C	T	exonic	CCDC87	.	nonsynonymous SNV	CCDC87:NM_018219:exon1:c.G1315A:p.V439I,	.	.	426	1094	2	0	0	2	0.000913242	.	.	2344668	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.19	T	0.004	B	0.005	B	0.468	N	1.000	N	1.39	L	1.47	T	-1.000	T	0.060	T	0.044	0.938	8.824	-1.72	-0.157	0.095	5.615	0.010	0.00320098348409	0.0004	.	0.0004	0	0.0003	0	0	0.0006	0	0.0002	0.0002911	45	154602	rs143106957	0.0004	0.0004	0.0004	0.0004	0.0024	0.0003	0.0003	0.0015	0.0012	8.968e-05	0.0004	3.829e-05	0	0	0.0024	0.0004	0.0005	0.0003	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	7.217e-05	0	0.0004	0	0	0	0.0034	0.0005	0.0005	0	0.321	0.13522	T	0.22	0.25907	T	0.004	0.12183	B	0.005	0.11217	B	0.468410	0.04912	N	1.398570	1	0.08975	N	1.5	0.37844	L	1.47	0.31987	T	-0.33	0.12472	N	0.066	0.03841	-1.0004	0.29803	T	0.060	0.24981	T	10	0.022217035	0.00549	T	0.003201	0.07026	T	0.010	0.01040	.	.	0.17948927462	0.17512	0.05560351241801656	0.05501	0.111153288707	0.12538	0.290364086628	0.08976	T	0.009059	0.08271	T	-0.600254	0.00145	T	-0.743622	0.03740	T	0.0114834506869783	0.00173	T	0.435056	0.11905	T	0.029857267	0.02551	0.026878115	0.00803	0.029857267	0.02550	0.026878115	0.00803	-4.148	0.25995	T	.	.	0.093	0.13969	B	.	.	0.180545	0.05683	2.129	0.914081289628211	0.20675	0.01163	0.04190	N	AEFBI	0.040218	0.05950	N	-0.863282496923156	0.11724	0.5674002	-0.895363960527544	0.12203	0.6263561	0.999713398045902	0.42101	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.3	-1.72	0.07671	0.100000	0.15067	-0.756000	0.07556	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.555000	0.30293	0.0:0.2971:0.1738:0.5291	5.615	0.16706	61	0.97388	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1195.98	33	chr11	66591701	.	C	T	1195.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.76;DP=842;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.86;ReadPosRankSum=-2.310e-01;SOR=0.657	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1086	20	0	1	0
chr11	66705066	66705066	T	C	exonic	SPTBN2	.	nonsynonymous SNV	SPTBN2:NM_006946:exon15:c.A2210G:p.E737G,	Spinocerebellar ataxia 5, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 14, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.302	B	0.145	B	0.014	N	0.987	D	0.575	N	0.57	T	-0.982	T	0.105	T	0.358	3.944	20.2	4.7	1.972	-0.143	13.279	0.128	0.137984592145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.164	0.31026	T	0.302	0.32608	B	0.145	0.33871	B	0.014460	0.28529	N	0.360187	0.987378	0.40580	D	0.97	0.24054	L	0.57	0.54347	T	-1.01	0.26639	N	0.089	0.07398	-0.9822	0.34491	T	0.105	0.38538	T	10	0.11580378	0.21827	T	0.137985	0.82048	D	0.128	0.35103	0.407	0.44066	0.361328159215	0.35739	0.26863934991022526	0.26776	0.482623129529	0.47225	0.609015822411	0.54176	T	0.186464	0.53977	T	-0.107011	0.35262	T	-0.39149	0.34377	T	0.429928123950958	0.30058	T	0.766923	0.39491	T	0.24004294	0.46902	0.13160156	0.31598	0.24004294	0.46902	0.13160156	0.31597	-4.51	0.31019	T	0.1494319475734284	0.17473	0.071	0.03964	B	.;.;.	.;.;.	2.390710	0.30700	18.52	0.99898874383398961	0.97124	0.31089	0.24249	N	AEFDBI	0.314528	0.41936	N	-0.35737268921465	0.27003	1.478103	-0.257065263401855	0.29529	1.655075	0.999971723356994	0.50053	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.7	4.7	0.58776	0.507000	0.22383	3.427000	0.38290	0.607000	0.46521	0.000000	0.06391	1.000000	0.68203	0.537000	0.29868	0.0:0.0:0.0:1.0	13.279	0.59636	231	0.90996	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	671.98	35	chr11	66705066	.	T	C	671.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.809;DP=841;ExcessHet=0.0000;FS=2.302;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.00;ReadPosRankSum=0.289;SOR=1.101	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	20	0	1	0
chr11	66744819	66744819	-	GGCGGCGGCGGC	exonic	C11orf80	.	nonframeshift insertion	C11orf80:NM_024650:exon1:c.77_78insGGCGGCGGCGGC:p.A34_G35insAAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0	0.0263	0	.	0.0018	0	0.0009	0.0001682	26	154602	rs567536854	0.0073	0.0075	0.0073	0.0073	0.0076	0.0072	0.0071	0.0075	0.0074	0.0029	0.0051	0.0060	0.0063	0.0104	0.0035	0.0076	0.0060	0.0026	0.0074	0.0075	0.0078	0.0071	0.0102	0.0071	0.0069	0.0088	0.0086	0.0037	0.0022	0.0072	0.0079	0.0102	0.0097	0	0.0094	0.0117	0.0038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	25402.44	33	chr11	66744819	.	G	GGGC,GGGCGGC,GGGCGGCGGCGGC	25402.44	.	AC=18,3,1;AF=0.429,0.071,0.024;AN=42;BaseQRankSum=-1.780e-01;DP=1238;ExcessHet=1.0911;FS=0.000;InbreedingCoeff=0.0455;MLEAC=18,3,1;MLEAF=0.429,0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=27.88;ReadPosRankSum=-4.000e-02;SOR=0.747	GT:AD:DP:GQ:PL	0/0:34,0,0,0:34:99:0,99,1485,99,1485,1485,99,1485,1485,1485	5	4	8	0
chr11	66859989	66859989	C	A	exonic	LRFN4	.	nonsynonymous SNV	LRFN4:NM_024036:exon2:c.C1702A:p.P568T	.	.	412	1107	3	0	0	3	0.00135318	.	.	2320025	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.67	T	0.261	B	0.067	B	0.001	D	1.000	D	0	N	0.76	T	-1.059	T	0.060	T	0.215	1.468	10.85	4.72	2.178	0.878	13.176	0.067	0.0628741935213	.	.	0.0002	0	0	0	0	0.0003	0.0020	9.443e-05	0.00011	17	154602	rs770897306	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0002	0.0002	0.0002	9.039e-05	0.0002	0	0	0	0.0006	0.0002	0.0003	3.536e-05	0.0002	0.0002	0.0002	0.0001	0.0010	0.0001	0.0001	0.0007	0.0005	0	0	0.0010	0	0	0	0	0.0002	0	0	0.28	0.15509	T	0.37	0.16473	T	0.261	0.31520	B	0.067	0.27542	B	0.000815	0.41658	D	0.000000	1	0.81001	D	1.28	0.32218	L	0.76	0.49919	T	0.11	0.05706	N	0.267	0.30233	-1.0588	0.12058	T	0.060	0.25237	T	10	0.076803595	0.12044	T	0.062874	0.68790	D	0.067	0.19503	.	.	0.291402777868	0.28757	0.2553135880752536	0.25445	0.254842257115	0.28066	0.804095506668	0.82588	D	0.002998	0.02402	T	-0.394984	0.02497	T	-0.506207	0.21705	T	0.0248229776931015	0.01249	T	0.60094	0.22456	T	0.06823351	0.14847	0.06167666	0.11947	0.06823351	0.14847	0.06167666	0.11947	-5.36	0.40533	T	.	.	0.090	0.12418	B	.	.	2.126398	0.27073	17.34	0.9378945438383296	0.23752	0.30353	0.24061	N	AEFDGBCI	0.086488	0.17536	N	-0.587356422745973	0.19327	1.01067	-0.45175456561358	0.23499	1.281817	0.999999991000309	0.74766	0.634777	0.41761	0	0.694456	0.67091	0	0.643519	0.47002	0	0.592323	0.36904	0	.	.	4.72	4.72	0.59248	1.742000	0.37873	3.881000	0.40240	-0.302000	0.06182	0.964000	0.33853	0.999000	0.35428	0.695000	0.33988	0.0:1.0:0.0:0.0	13.176	0.59048	300	0.87974	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	977.98	41	chr11	66859989	.	C	A	977.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.140e-01;DP=787;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.60;ReadPosRankSum=2.30;SOR=0.739	GT:AD:DP:GQ:PL	0/0:55,0:55:96:0,96,1574	20	0	1	0
chr11	66863811	66863811	C	T	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon10:c.G1331A:p.S444N	Pyruvate carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.001	B	0.006	B	0.000	D	1.000	D	0.6	N	-1.49	T	-0.718	T	0.281	T	0.218	1.574	11.22	5.54	2.603	6.822	12.661	0.340	0.0403761480499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.07746	T	0.513	0.10821	T	0.001	0.07471	B	0.006	0.12133	B	0.000002	0.62929	D	0.096468	0.999867	0.50061	D	0.27	0.09956	N	-1.49	0.81235	T	0.25	0.04456	N	0.597	0.61596	-0.7183	0.59546	T	0.281	0.65280	T	10	0.371042	0.53477	T	0.040376	0.59342	D	0.340	0.66202	0.353	0.35246	0.417919123248	0.41407	.	.	0.828852337507	0.67540	0.812464594841	0.83870	D	0.306455	0.67866	T	-0.0390994	0.46083	T	-0.29394	0.45361	T	0.607176721096039	0.36687	D	0.939506	0.77539	D	0.16597606	0.36904	0.18945736	0.42293	0.16597606	0.36904	0.18945736	0.42293	-5.616	0.42938	T	0.0686599878140657	0.02511	0.139	0.30370	B	.;.;.;.;.	.;.;.;.;.	2.999539	0.40076	21.1	0.94205998637530508	0.24445	0.96446	0.69180	D	AEFDGBI	0.747219	0.68934	D	-0.12521594567028	0.36297	2.09615	0.0861861627878325	0.43852	2.678501	0.999999992442072	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	5.305000	0.65541	7.502000	0.59501	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.8337:0.1663:0.0	12.661	0.56177	297	0.88113	Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3	1346.63	65	chr11	66863811	.	C	T	1346.63	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-4.038e+00;DP=2406;ExcessHet=9.6308;FS=147.397;InbreedingCoeff=-0.4216;MLEAC=12;MLEAF=0.300;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=1.76;SOR=12.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:89,34:123:13:.:.:13,0,1245	8	0	12	1
chr11	66871069	66871069	C	A	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon5:c.G616T:p.V206L	Pyruvate carboxylase deficiency, Autosomal recessive	.	1	1495	22	4	0	30	0.00993377	.	.	200210	not_provided|Pyruvate_carboxylase_deficiency	MedGen:C3661900|MONDO:MONDO:0009949,MedGen:C0034341,OMIM:266150,Orphanet:3008	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.603	P	0.389	B	0.000	D	1.000	D	1.445	L	-4.23	D	0.918	D	0.865	D	0.734	3.749	19.04	4.99	2.327	6.982	15.756	0.770	.	0.0015	0.00399361	0.0034	0.0004	0.0011	0.0001	0.0002	0.0018	0.0055	0.0159	0.0030077	465	154602	rs147945506	0.0026	0.0026	0.0022	0.0030	0.0145	0.0025	0.0025	0.0139	0.0136	0.0004	0.0011	0.0015	0	0.0001	0.0019	0.0020	0.0029	0.0145	0.0016	0.0016	0.0014	0.0018	0.0122	0.0015	0.0014	0.0097	0.0088	0.0007	0	0.0013	0.0003	0.0002	0.0003	0.0034	0.0019	0.0014	0.0122	0.032	0.50132	D	0.041	0.50514	D	0.603	0.39389	P	0.389	0.44119	B	0.000001	0.84330	D	0.000000	1	0.81001	D	1.48	0.37141	L	-4.23	0.97006	D	-2.26	0.50502	N	0.582	0.61933	0.918	0.95927	D	0.865	0.95516	D	10	0.0122175515	0.00263	T	.	.	.	0.770	0.92253	0.532	0.64002	0.855541633685	0.85414	.	.	1.23621605308	0.81471	0.742577672005	0.73352	T	0.778632	0.94136	D	-0.0158576	0.49441	T	0.217419	0.84044	D	0.0201840610198195	0.00718	T	0.989923	0.97608	D	0.4286623	0.62665	0.33626238	0.59431	0.5205709	0.68293	0.41155142	0.65383	-8.117	0.61865	D	0.26643653524124544	0.35909	0.595	0.68686	P	.;.;.;.;.	.;.;.;.;.	4.680965	0.74909	26.2	0.99283857885603	0.58008	0.99334	0.94646	D	AEFDGBI	0.879305	0.80517	D	0.360963118492356	0.59322	4.110527	0.432198534610048	0.63581	4.594817	0.999999999971633	0.74766	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.99	4.99	0.65942	5.529000	0.66849	7.613000	0.61989	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.949000	0.49496	0.0:1.0:0.0:0.0	15.756	0.77798	295	0.88218	Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain|ATP-grasp fold|Biotin carboxylation domain;Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain|ATP-grasp fold|Biotin carboxylation domain;Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain|ATP-grasp fold|Biotin carboxylation domain;Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain|ATP-grasp fold|Biotin carboxylation domain;Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain|ATP-grasp fold|Biotin carboxylation domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	851.98	37	chr11	66871069	.	C	A	851.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.615e+00;DP=784;ExcessHet=0.0000;FS=6.531;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=-4.990e-01;SOR=0.228	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1344	20	0	1	0
chr11	67043756	67043756	G	A	exonic	SYT12	.	nonsynonymous SNV	SYT12:NM_001318775:exon4:c.G395A:p.R132H	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.972	D	0.525	P	0.000	D	1.000	D	0.895	L	-0.72	T	-0.445	T	0.280	T	0.745	5.256	33	5.4	2.536	7.870	16.687	0.536	.	.	0.00179712	0.0016	0	0.0003	0	0	3.003e-05	0.0011	0.0116	0.0013389	207	154602	rs550547042	0.0007	0.0007	0.0004	0.0009	0.0105	0.0006	0.0006	0.0099	0.0097	0	4.472e-05	0	2.519e-05	0	0.0005	3.597e-06	0.0007	0.0105	0.0003	0.0003	0.0001	0.0004	0.0081	0.0002	0.0002	0.0061	0.0054	0	0	0	0	0	0	0	0	0	0.0081	0.082	0.33254	T	0.173	0.30143	T	0.972	0.57405	D	0.525	0.48375	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.34	0.67151	M	-0.72	0.72994	T	-1.81	0.42575	N	0.761	0.75927	-0.4449	0.70568	T	0.280	0.65170	T	10	0.010840088	0.00239	T	.	.	.	0.536	0.80545	0.668	0.80602	0.875165545415	0.87394	0.611035905961792	0.61035	0.706081825482	0.61434	0.648913025856	0.59832	T	0.087023	0.37851	T	-0.157237	0.27188	T	0.0107587	0.71030	D	0.0793683438402858	0.09906	T	0.949605	0.80601	D	0.40605652	0.61150	0.31656867	0.57636	0.40605652	0.61150	0.31656867	0.57635	-4.846	0.35123	T	.	.	0.137	0.31330	B	.;.;.	.;.;.	4.864255	0.79626	27.1	0.99949250677431822	0.99931	0.99154	0.92024	D	AEFDGBI	0.901516	0.84830	D	0.536577959007732	0.69268	5.333012	0.605135919313311	0.75312	6.288327	0.999999999999968	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.4	5.4	0.77957	7.990000	0.87862	2.875000	0.35292	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.832000	0.39227	0.0:0.0:1.0:0.0	16.687	0.85171	148	0.94114	C2 domain|C2 domain;C2 domain|C2 domain;C2 domain|C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2793.11	34	chr11	67043756	.	G	A	2793.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.753;DP=917;ExcessHet=0.1072;FS=1.519;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.13;ReadPosRankSum=1.25;SOR=0.595	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1180	19	0	2	0
chr11	67307912	67307912	T	G	exonic	SSH3	.	nonsynonymous SNV	SSH3:NM_017857:exon8:c.T858G:p.S286R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.993	D	0.865	P	0.014	N	1.000	D	1.39	L	3.81	T	-1.007	T	0.045	T	0.517	0.075	4.408	-3.72	-0.980	-2.751	6.760	0.171	0.0240560361761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.34621	T	0.534	0.09965	T	0.417	0.65571	B	0.246	0.61524	B	0.014200	0.28607	N	0.308380	0.888341	0.81001	D	0.895	0.22405	L	3.78	0.03836	T	0.5	0.02945	N	0.355	0.39659	-1.0071	0.27819	T	0.045	0.19234	T	10	0.15192142	0.28706	T	0.024056	0.47042	T	0.171	0.43483	0.432	0.48171	0.0920862733494	0.08535	0.7188963077735865	0.71832	0.644564289753	0.57945	0.443511337042	0.31057	T	0.141777	0.47702	T	-0.189448	0.22339	T	-0.509906	0.21325	T	0.311811834573746	0.25488	T	0.640436	0.25296	T	0.043452576	0.06775	0.04164666	0.04782	0.043452576	0.06775	0.04164666	0.04782	-4.296	0.28121	T	.	.	0.603	0.68999	P	.;.	.;.	-0.559628	0.01685	0.121	0.67726393326043655	0.08441	0.16502	0.19418	N	AEFDGBI	0.315497	0.42005	N	-1.1824551665039	0.05265	0.2396083	-1.31255918024842	0.04267	0.2009009	0.99991798872534	0.45857	0.732398	0.92422	0	0.588066	0.40923	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	4.5	-3.72	0.04125	-3.845000	0.00396	-2.219000	0.04040	-1.838000	0.00583	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1239:0.4449:0.0:0.4312	6.760	0.22723	397	0.82902	DEK, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1785.98	36	chr11	67307912	.	T	G	1785.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.960e-01;DP=873;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=-1.056e+00;SOR=0.690	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1454	20	0	1	0
chr11	67311792	67311792	G	A	exonic	SSH3	.	nonsynonymous SNV	SSH3:NM_017857:exon14:c.G1885A:p.G629R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.275	B	0.17	B	0.387	N	1.000	D	-0.55	N	3.87	T	-0.967	T	0.032	T	0.061	-0.373	2.247	1.78	0.737	0.136	5.743	0.033	0.0174244588221	.	.	8.303e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs767244033	1.369e-06	1.368e-06	0	2.751e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.371	0.25355	T	0.232	0.25438	T	0.18	0.31898	B	0.082	0.35299	B	0.386785	0.04453	N	1.443540	1	0.81001	D	0.345	0.11182	N	3.87	0.30669	T	-0.48	0.23808	N	0.045	0.10769	-0.9674	0.37733	T	0.032	0.13635	T	10	0.039671957	0.02475	T	0.017424	0.39111	T	0.033	0.08068	0.149	0.05238	0.0762999501168	0.06990	0.05574619410609089	0.05515	0.300694972663	0.32416	0.320713192225	0.13529	T	0.056998	0.30445	T	-0.384846	0.02903	T	-0.693727	0.06176	T	0.115956902503967	0.14030	T	0.512749	0.16428	T	0.03884553	0.05253	0.044165824	0.05662	0.03884553	0.05253	0.044165824	0.05662	-6.823	0.53321	T	.	.	0.095	0.18164	B	.;.;.	.;.;.	0.318568	0.06933	3.476	0.67852685432048643	0.08479	0.25402	0.22688	N	AEFDGBHCI	0.152697	0.27743	N	-1.26641034103622	0.04087	0.1838068	-1.25871925349848	0.05003	0.2373845	0.999999969458549	0.74766	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	2.7	1.78	0.23918	0.356000	0.19918	5.456000	0.48659	0.139000	0.17671	0.027000	0.20232	0.999000	0.35428	0.005000	0.06747	0.155:0.0:0.845:0.0	5.743	0.17374	401	0.82673	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1425.98	34	chr11	67311792	.	G	A	1425.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.51;DP=826;ExcessHet=0.0000;FS=1.491;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=0.781;SOR=0.878	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1097	20	0	1	0
chr11	67367561	67367561	G	A	exonic	CLCF1	.	nonsynonymous SNV	CLCF1:NM_001166212:exon2:c.C52T:p.L18F	Cold-induced sweating syndrome 2, Autosomal recessive	.	0	225	1	0	0	1	0.00221729	.	.	2351594	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.994	D	0.986	D	0.050	N	1.000	D	0	N	-1.77	D	0.349	D	0.574	D	0.405	4.550	24.6	5.26	2.646	4.211	18.859	0.513	0.0214483187736	.	.	0.0001	0	0	0	0	0	0	0.0009	9.7e-05	15	154602	rs766150197	7.593e-05	7.593e-05	4.22e-05	0.0001	0.0011	6.424e-05	6.004e-05	0.0010	0.0009	0	0	0	0	0	0.0003	4.497e-06	8.28e-05	0.0011	1.974e-05	1.971e-05	0	4.042e-05	0.0006	5.25e-06	2.46e-06	0.0002	9.007e-05	0	0	0	0	0	0	0	0	0	0.0006	0.02	0.49613	D	0.079	0.42086	T	0.994	0.66517	D	0.986	0.76916	D	0.050340	0.23081	N	0.321156	0.999883	0.50402	D	0.55	0.14455	N	-1.82	0.84047	D	-2.18	0.51811	N	0.46	0.50418	0.349	0.88319	D	0.574	0.84604	D	10	0.15184739	0.28694	T	0.021448	0.44220	T	0.513	0.79156	.	.	0.578786405315	0.57548	0.31489641992489115	0.31402	0.968259920111	0.73269	0.820547938347	0.85111	D	0.206574	0.56595	T	-0.234665	0.16038	T	-0.160297	0.58325	T	0.260921567678452	0.23355	T	0.657134	0.26688	T	0.20806354	0.43031	0.20489953	0.44634	0.20806354	0.43031	0.20489953	0.44633	-5.16	0.38676	T	0.2740275266244425	0.36817	0.115	0.22861	B	.;.	.;.	4.400771	0.67996	25.2	0.99888989499411873	0.96359	0.95556	0.65192	D	AEFDGBI	0.624937	0.60832	D	0.498360895239706	0.66992	5.022801	0.555281489345559	0.71767	5.705055	0.999999999995171	0.74766	0.615465	0.37627	0	0.610034	0.51514	0	0.576033	0.28219	0	0.655142	0.61905	0	.	.	5.26	5.26	0.73479	4.451000	0.59788	11.752000	0.95431	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.859	0.92234	414	0.81871	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2003.98	35	chr11	67367561	.	G	A	2003.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.194e+00;DP=856;ExcessHet=0.0000;FS=0.642;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=1.08;SOR=0.618	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1150	20	0	1	0
chr11	67395783	67395783	G	A	exonic	RAD9A	.	nonsynonymous SNV	RAD9A:NM_001243224:exon3:c.G289A:p.G97S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	0.463	P	0.078	B	0.000	D	1.000	D	0.57	N	2.37	T	-1.070	T	0.028	T	0.515	1.940	12.44	4.82	2.406	5.407	15.218	0.128	0.0074793674666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.566e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.513	0.07425	T	0.662	0.06469	T	0.463	0.36407	P	0.078	0.28627	B	0.000155	0.49130	D	0.177217	0.999529	0.47407	D	1.7	0.43825	L	2.37	0.19450	T	-0.1	0.08495	N	0.577	0.59901	-1.0695	0.09523	T	0.028	0.12147	T	10	0.20826074	0.37150	T	0.007479	0.19846	T	0.128	0.35103	0.461	0.52916	0.27479166964	0.27093	0.32831627923835055	0.32744	0.187020584716	0.21015	0.464833498001	0.33971	T	0.199	0.55615	T	-0.103238	0.35888	T	-0.38607	0.35012	T	0.55640310049057	0.34719	D	0.763624	0.39028	T	0.38433218	0.59628	0.18065879	0.40879	0.38433218	0.59628	0.18065879	0.40878	-6.281	0.48571	T	.	.	0.107	0.20117	B	.;.	.;.	3.565741	0.50190	22.9	0.93205140694649857	0.22876	0.94432	0.61147	D	AEFDBHCI	0.621788	0.60635	D	-0.096507526907212	0.37545	2.185879	0.0891390389350326	0.43999	2.690356	0.999999999865429	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	4.82	4.82	0.61641	5.001000	0.63693	9.912000	0.82435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	15.218	0.72979	417	0.81662	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1296.98	39	chr11	67395783	.	G	A	1296.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.399e+00;DP=836;ExcessHet=0.0000;FS=1.753;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.10;ReadPosRankSum=1.52;SOR=0.919	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1216	20	0	1	0
chr11	67405470	67405470	C	T	exonic	TBC1D10C	.	nonsynonymous SNV	TBC1D10C:NM_001369495:exon3:c.C25T:p.P9S	.	.	425	1080	17	0	0	17	0.00780891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.00199681	0.0022	0.0003	0.0025	0	0.0002	0.0013	0.0034	0.0084	0.0020892	323	154602	rs138930014	0.0015	0.0015	0.0012	0.0017	0.0085	0.0014	0.0014	0.0080	0.0078	0.0002	0.0042	0	0	0.0008	0.0042	0.0009	0.0015	0.0085	0.0015	0.0015	0.0013	0.0018	0.0073	0.0014	0.0013	0.0062	0.0057	0.0004	0	0.0073	0	0	0.0003	0	0.0010	0.0024	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.02381	857.98	34	chr11	67405470	.	C	T	857.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.68;DP=785;ExcessHet=0.0000;FS=7.325;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=1.12;SOR=1.655	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1467	20	0	1	0
chr11	67409501	67409501	G	A	exonic	TBC1D10C	.	nonsynonymous SNV	TBC1D10C:NM_001369495:exon9:c.G785A:p.R262Q	.	.	424	1030	61	7	0	75	0.0351288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.002	B	0.002	B	0.474	N	0.816	N	1.1	L	3.27	T	-0.987	T	0.008	T	0.099	0.686	7.666	-2.56	-0.752	-0.234	6.093	0.016	.	0.0013	0.00519169	0.0103	0.0020	0	0	0	0.0107	0.0076	0.0112	0.002044	316	154602	rs149140675	0.0037	0.0036	0.0034	0.0040	0.0475	0.0036	0.0036	0.0427	0.0409	0.0019	0.0048	0.0117	0.0004	0.0040	0.0475	0.0027	0.0075	0.0104	0.0038	0.0038	0.0037	0.0040	0.0110	0.0036	0.0035	0.0086	0.0078	0.0006	0	0.0065	0.0141	0.0006	0.0030	0.0272	0.0042	0.0147	0.0110	0.168	0.23007	T	0.265	0.22694	T	0.002	0.09854	B	0.002	0.06944	B	0.474252	0.12241	N	0.688838	1	0.28947	N	.	.	.	3.27	0.06602	T	-0.5	0.15782	N	0.114	0.10198	-0.9866	0.33445	T	0.008	0.02720	T	10	0.0037960112	0.00071	T	.	.	.	0.016	0.02506	.	.	0.12205267543	0.11705	0.2705067848096566	0.26963	.	.	0.376769483089	0.21798	T	0.024103	0.18278	T	-0.691135	0.00041	T	-0.756149	0.03253	T	0.000306898303968616	0.00002	T	0.721228	0.33447	T	0.039088134	0.05330	0.053378228	0.08979	0.039088134	0.05330	0.053378228	0.08978	-4.807	0.34673	T	.	.	0.067	0.02458	B	.	.	0.956254	0.13325	9.829	0.95951858910698251	0.28275	0.01645	0.05289	N	ALL	0.026810	0.02078	N	-1.26242745027156	0.04137	0.1861875	-1.32657734763861	0.04090	0.1921831	0.999999999997694	0.74766	0.580535	0.33130	0	0.52208	0.09955	0	0.603688	0.36954	0	0.604944	0.38103	0	.	.	4.92	-2.56	0.05903	-0.133000	0.10430	0.285000	0.16810	-0.135000	0.12811	0.002000	0.15269	0.136000	0.23046	0.070000	0.16646	0.5777:0.0:0.2774:0.1449	6.093	0.19226	580	0.69689	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	515.98	33	chr11	67409501	.	G	A	515.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.816;DP=743;ExcessHet=0.0000;FS=2.509;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.98;ReadPosRankSum=-2.890e-01;SOR=0.892	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1044	20	0	1	0
chr11	67409605	67409605	C	T	exonic	TBC1D10C	.	nonsynonymous SNV	TBC1D10C:NM_001369495:exon9:c.C889T:p.P297S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.799	P	0.234	B	0.000	D	1.000	D	0.55	N	3.26	T	-0.991	T	0.014	T	0.175	3.079	16.28	4.0	1.298	4.675	8.783	0.070	0.0130860488511	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482694268	7.142e-07	2.052e-06	0	1.447e-06	1.253e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.253e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.171	0.30339	T	0.799	0.44910	P	0.234	0.38393	B	0.000156	0.49130	D	0.000000	0.584872	0.81001	D	0.695	0.17993	N	3.26	0.06681	T	-0.61	0.18042	N	0.28	0.31702	-0.9905	0.32475	T	0.014	0.05369	T	10	0.1643605	0.30750	T	0.013086	0.32217	T	0.070	0.20419	0.273	0.22369	0.456552270603	0.45279	0.6009418203263939	0.60025	.	.	0.692549109459	0.66072	T	0.025498	0.19053	T	-0.237034	0.15730	T	-0.578259	0.14700	T	0.502684354782104	0.32728	D	0.80172	0.44782	T	0.0891703	0.20824	0.08383087	0.19242	0.0891703	0.20824	0.08383087	0.19242	-5.172	0.38656	T	.	.	0.110	0.21087	B	.	.	3.956761	0.58003	23.9	0.99864037400155947	0.94184	0.91655	0.53983	D	AEFDGBCI	0.632011	0.61278	D	-0.0129390730870867	0.41271	2.465513	0.0491419005034255	0.42030	2.535199	0.999999999946887	0.74766	0.608966	0.35542	0	0.52208	0.09955	0	0.769059	0.98459	0	0.604944	0.38103	0	.	.	4.91	4.0	0.45673	2.233000	0.42672	7.300000	0.58086	0.599000	0.40250	0.847000	0.30396	1.000000	0.68203	0.885000	0.42453	0.0:0.8981:0.0:0.1019	8.783	0.33959	584	0.69381	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	531.98	39	chr11	67409605	.	C	T	531.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.300e-02;DP=682;ExcessHet=0.0000;FS=2.550;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.56;ReadPosRankSum=-1.264e+00;SOR=0.805	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1044	20	0	1	0
chr11	67417659	67417659	G	A	exonic	CARNS1	.	nonsynonymous SNV	CARNS1:NM_001166222:exon3:c.G256A:p.G86S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	T	0.0	B	0.0	B	.	.	1.000	D	-0.345	N	1.96	T	-1.044	T	0.022	T	0.062	0.118	4.635	4.11	0.648	1.728	7.406	0.094	0.00619525824218	.	0.000199681	0.0017	0	0	0	0	0.0031	0	0	0.000207	32	154602	rs528055975	0.0010	0.0008	0.0010	0.0009	0.0011	0.0009	0.0009	0.0011	0.0010	0.0002	0.0001	0	0	0	0.0002	0.0011	0.0006	0.0006	0.0006	0.0006	0.0005	0.0006	0.0011	0.0005	0.0004	0.0009	0.0008	0.0002	0	0.0003	0	0	0	0	0.0011	0	0.0006	1.0	0.00964	T	0.747	0.04860	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.92	0.23082	T	1.49	0.00747	N	0.095	0.07535	-1.0438	0.16177	T	0.022	0.09375	T	9	0.0052271783	0.00114	T	0.006195	0.16229	T	0.094	0.27141	.	.	0.112648838833	0.10856	0.0998181176852224	0.09912	0.0938026689721	0.10595	0.509859442711	0.40202	T	.	.	.	-0.638932	0.00085	T	-0.695485	0.06075	T	0.0460777085242652	0.04799	T	0.170983	0.01619	T	.	.	.	.	.	.	.	.	-4.024	0.24683	T	.	.	0.057	0.00604	B	.;.	.;.	2.851298	0.37648	20.5	0.84988932511304638	0.15618	0.00961	0.03687	N	AEFGBI	0.092882	0.18799	N	-0.829005724227071	0.12572	0.6136798	-0.598945214389119	0.19519	1.047685	0.999991090405296	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.11	4.11	0.47350	1.389000	0.34060	7.990000	0.76108	-0.040000	0.17491	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.897:0.0:0.103:0.0	7.406	0.26162	658	0.62094	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	593.98	33	chr11	67417659	.	G	A	593.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=725;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=-1.041e+00;SOR=0.562	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr11	67419640	67419640	C	T	exonic	CARNS1	.	nonsynonymous SNV	CARNS1:NM_020811:exon5:c.C637T:p.P213S	.	.	401	1119	2	0	0	2	0.000892857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.932	P	0.647	P	.	.	1.000	N	0.895	L	1.01	T	-0.899	T	0.105	T	0.135	1.882	12.25	4.38	1.253	0.673	6.902	0.044	.	.	0.00439297	0.0033	0	0	0	0	0	0	0.0188	0.0017658	273	154602	rs370181519	0.0009	0.0009	0.0005	0.0012	0.0141	0.0008	0.0008	0.0134	0.0132	9.047e-05	0	0	0	1.963e-05	0	5.427e-06	0.0012	0.0141	0.0005	0.0005	0.0002	0.0007	0.0139	0.0004	0.0003	0.0112	0.0102	4.812e-05	0	0	0	0	0	0	1.47e-05	0	0.0139	0.005	0.65419	D	0.107	0.40909	T	0.689	0.41609	P	0.223	0.37929	B	.	.	.	.	0.612257	0.30850	N	0.975	0.24501	L	0.97	0.44065	T	-2.92	0.61580	D	0.237	0.26717	-0.8989	0.48105	T	0.105	0.38390	T	9	0.0035881102	0.00065	T	.	.	.	0.044	0.11924	0.374	0.38667	0.326074293725	0.32213	0.43675181453347056	0.43592	0.117064650146	0.13196	0.428976327181	0.29069	T	0.004581	0.03988	T	-0.569554	0.00223	T	-0.578577	0.14673	T	0.062535528833052	0.07562	T	0.69713	0.31478	T	0.10096236	0.23845	0.14372553	0.34147	0.10096236	0.23845	0.14372553	0.34146	-5.864	0.50062	T	.	.	0.190	0.40873	B	.;.;.	.;.;.	2.721671	0.35600	19.94	0.99370263476264842	0.61411	0.21484	0.21418	N	AEFGBI	0.111511	0.22075	N	-0.118099872763462	0.36606	2.118094	-0.128119685846944	0.34262	1.968833	0.999995115193195	0.74766	0.615755	0.39536	0	0.618376	0.53248	0	0.61531	0.40942	0	0.562822	0.20929	0	.	.	5.29	4.38	0.52019	0.736000	0.25798	3.245000	0.36991	0.599000	0.40250	0.006000	0.17386	0.997000	0.33255	0.911000	0.44643	0.1723:0.7383:0.0:0.0895	6.902	0.23469	658	0.62094	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1252.98	66	chr11	67419640	.	C	T	1252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=795;ExcessHet=0.0000;FS=5.313;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.98;ReadPosRankSum=2.29;SOR=1.143	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1380	20	0	1	0
chr11	67421025	67421025	G	C	exonic	CARNS1	.	nonsynonymous SNV	CARNS1:NM_020811:exon8:c.G1063C:p.G355R	.	.	319	1197	6	0	0	6	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.595	P	0.236	B	.	.	1.000	D	0.895	L	1.59	T	-0.787	T	0.164	T	0.771	3.641	18.52	4.15	1.880	1.786	11.185	0.160	.	.	0.000399361	0.0008	0.0192	0	0	.	0	0	0.0005	0.0002135	33	154602	rs545975688	0.0029	0.0025	0.0029	0.0028	0.0033	0.0028	0.0028	0.0032	0.0032	0.0009	0.0021	0.0001	3.765e-05	0.0002	0.0028	0.0033	0.0030	7.248e-05	0.0017	0.0017	0.0017	0.0017	0.0029	0.0015	0.0015	0.0026	0.0024	0.0006	0	0.0020	0	0	0	0.0137	0.0029	0.0010	0	0.016	0.52492	D	0.204	0.27235	T	0.296	0.32457	B	0.038	0.23361	B	.	.	.	.	0.978517	0.39469	D	0.805	0.20218	L	1.59	0.30669	T	-1.81	0.42575	N	0.399	0.48411	-0.7868	0.55915	T	0.164	0.50078	T	9	0.007397473	0.00168	T	.	.	.	0.217	0.51112	.	.	0.328486982098	0.32448	0.36227796375865845	0.36141	0.135411833897	0.15262	0.908733010292	0.97349	D	0.008055	0.07418	T	-0.319875	0.06908	T	-0.235619	0.51225	T	0.0508017309378278	0.05640	T	0.80392	0.45144	T	0.12083106	0.28426	0.2380931	0.49123	0.12083106	0.28426	0.2380931	0.49122	-5.184	0.41426	T	.	.	0.352	0.58023	A	.;.;.	.;.;.	3.551534	0.49927	22.9	0.99678679803577142	0.79108	0.59217	0.30854	D	ALL	0.304504	0.41218	N	0.0918070133571178	0.46080	2.85409	0.111266341791659	0.45123	2.781196	0.999999999999747	0.74766	0.56387	0.32371	0	0.218748	0.04544	0	0.503968	0.08637	0	0.56214	0.19341	0	.	.	4.15	4.15	0.47978	1.407000	0.34266	8.060000	0.76395	-0.273000	0.06669	0.888000	0.31154	1.000000	0.68203	0.955000	0.50612	0.0:0.0:0.8152:0.1848	11.185	0.47878	654	0.62520	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	387.98	36	chr11	67421025	.	G	C	387.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.900e-01;DP=738;ExcessHet=0.0000;FS=6.176;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.62;ReadPosRankSum=-4.600e-02;SOR=0.624	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1170	20	0	1	0
chr11	67438763	67438763	C	T	exonic	CORO1B	.	nonsynonymous SNV	CORO1B:NM_020441:exon10:c.G1252A:p.A418T	.	.	413	1084	22	3	0	28	0.0127505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.02	B	0.006	B	0.262	N	0.984	N	0	N	0.05	T	-1.050	T	0.055	T	0.009	1.154	9.699	-0.81	-0.330	-1.670	3.418	0.017	.	0.0088	0.00439297	0.0149	0.0027	0.0156	0	0	0.0239	0.0089	0.0085	0.0013519	209	154602	rs11601245	0.0096	0.0095	0.0097	0.0095	0.0119	0.0094	0.0094	0.0107	0.0106	0.0017	0.0063	0.0094	2.66e-05	0.0019	0.0119	0.0109	0.0089	0.0061	0.0065	0.0065	0.0070	0.0061	0.0107	0.0062	0.0061	0.0100	0.0098	0.0021	0	0.0065	0.0063	0	0.0015	0.0137	0.0107	0.0080	0.0048	0.77	0.03382	T	0.444	0.13177	T	0.02	0.18235	B	0.006	0.12133	B	0.261711	0.15302	N	0.546626	1	0.08975	N	1.01	0.25309	L	0.05	0.61923	T	0.12	0.05604	N	0.062	0.03502	-1.0497	0.14481	T	0.055	0.23110	T	10	0.0027342439	0.00043	T	.	.	.	0.017	0.02790	.	.	0.391000631824	0.38715	0.31806998235902945	0.31719	0.286447106532	0.31039	0.366126835346	0.20275	T	0.077863	0.35757	T	-0.645113	0.00078	T	-0.690042	0.06386	T	0.000803848268730522	0.00007	T	0.386161	0.09499	T	0.024548657	0.01297	0.040052857	0.04240	0.024548657	0.01297	0.040052857	0.04239	-4.299	0.28163	T	.	.	0.070	0.03301	B	.;.	.;.	0.504439	0.08736	5.509	0.91855835879007552	0.21170	0.11437	0.16633	N	ALL	0.202325	0.32892	N	-1.40426417976963	0.02601	0.1150833	-1.38738850081405	0.03386	0.1578181	0.999999999992869	0.74766	0.67177	0.52595	0	0.52208	0.09955	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	4.58	-0.81	0.10313	-1.556000	0.02272	-4.936000	0.01919	-1.563000	0.00944	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3033:0.4363:0.0:0.2605	3.418	0.06957	662	0.61715	.;.	DOC2GP|DOC2GP|DOC2GP	Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	RHOD|RHOD|RHOD|RHOD|RHOD|RHOD	Adipose_Visceral_Omentum|Esophagus_Mucosa|Heart_Left_Ventricle|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	510.98	39	chr11	67438763	.	C	T	510.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.054e+00;DP=710;ExcessHet=0.0000;FS=1.289;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.81;ReadPosRankSum=0.613;SOR=0.604	GT:AD:DP:GQ:PL	0/0:33,0:33:93:0,93,1395	20	0	1	0
chr11	67451824	67451824	C	G	exonic	GPR152	.	nonsynonymous SNV	GPR152:NM_206997:exon1:c.G901C:p.D301H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.676	P	0.122	B	0.010	N	0.518	N	1.04	L	1.07	T	-0.979	T	0.055	T	0.479	1.546	11.12	2.64	1.172	0.134	3.091	0.093	0.00937273252817	.	.	.	.	.	.	.	.	.	.	.	.	.	rs748077393	2.054e-06	2.052e-06	2.724e-06	1.376e-06	0.0002	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.007	0.69154	D	0.676	0.41315	P	0.122	0.32387	B	0.010234	0.30012	N	0.154565	0.517971	0.31593	N	2.67	0.78151	M	1.07	0.39586	T	-5.66	0.87063	D	0.414	0.45426	-0.9790	0.35231	T	0.055	0.23148	T	10	0.32466054	0.49786	T	0.009373	0.24577	T	0.093	0.26882	0.271	0.22052	0.642082960585	0.63912	0.40878749814814014	0.40794	1.01988730095	0.75077	0.495396584272	0.38187	T	0.103245	0.41173	T	-0.033459	0.46913	T	-0.285838	0.46203	T	0.972522974014282	0.69733	D	0.666133	0.27528	T	0.4476084	0.63890	0.5509616	0.74036	0.4476084	0.63891	0.5509616	0.74036	-3.759	0.20194	T	.	.	0.255	0.48998	B	.	.	2.781515	0.36536	20.3	0.99124806666205123	0.53089	0.44208	0.27268	N	AEFDGBCI	0.130160	0.24861	N	-0.266298272107347	0.30459	1.698524	-0.264045041216206	0.29291	1.639921	0.799921398882501	0.24168	0.421363	0.06395	0	0.550933	0.16991	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.67	2.64	0.30504	0.362000	0.20020	3.308000	0.37439	0.599000	0.40250	0.214000	0.24469	0.998000	0.33993	0.825000	0.38878	0.2144:0.5563:0.0:0.2292	3.091	0.05914	689	0.59000	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1131.98	33	chr11	67451824	.	C	G	1131.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=790;ExcessHet=0.0000;FS=2.619;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=-2.950e-01;SOR=0.965	GT:AD:DP:GQ:PL	0/1:57,44:101:99:1146,0,1399	20	0	1	0
chr11	67452264	67452264	C	T	exonic	GPR152	.	nonsynonymous SNV	GPR152:NM_206997:exon1:c.G461A:p.G154D,	.	.	0	224	2	0	0	2	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.996	D	0.001	N	0.980	D	1.495	L	1.06	T	-0.852	T	0.168	T	0.707	3.318	17.16	4.43	2.490	0.971	6.116	0.165	0.0149824402734	.	.	0.0002	0	0	0	0	0	0	0.0016	0.0001746	27	154602	rs554436929	0.0001	0.0001	6.005e-05	0.0002	0.0018	9.964e-05	9.371e-05	0.0015	0.0014	0	0	0	0	0	0.0003	3.597e-06	0.0001	0.0018	4.595e-05	4.593e-05	0	9.398e-05	0.0014	2.107e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	0.006	0.61437	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.001477	0.38917	N	0.000000	0.979709	0.39589	D	2.46	0.71463	M	1.06	0.39781	T	-4.62	0.79143	D	0.811	0.80669	-0.8519	0.51837	T	0.168	0.50681	T	10	0.27880192	0.45451	T	0.014982	0.35442	T	0.165	0.42395	.	.	0.650641314552	0.64773	0.7659023017265049	0.76539	1.10181829964	0.77759	0.841626703739	0.88342	D	0.320947	0.69209	T	-0.270108	0.11744	T	-0.185395	0.56020	T	0.289381507479367	0.24564	T	0.617538	0.23656	T	0.48239535	0.66046	0.53868705	0.73340	0.48239535	0.66046	0.53868705	0.73341	-10.708	0.78032	D	.	.	0.873	0.81041	P	.	.	3.870832	0.56201	23.7	0.99809627149994729	0.89353	0.54101	0.29533	D	AEFDBHCIJ	0.232819	0.35583	N	0.377317391527173	0.60193	4.205783	0.325287907907078	0.57031	3.867526	0.999997353111855	0.74766	0.437478	0.07067	0	0.550933	0.16991	0	0.578056	0.29568	0	0.603991	0.37454	0	.	.	5.34	4.43	0.52967	0.102000	0.15108	4.003000	0.41092	0.599000	0.40250	0.000000	0.06391	0.999000	0.35428	0.459000	0.28096	0.1876:0.7185:0.0:0.0939	6.116	0.19346	693	0.58582	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1333.98	33	chr11	67452264	.	C	T	1333.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.030;DP=784;ExcessHet=0.0000;FS=1.699;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.50;ReadPosRankSum=0.281;SOR=0.894	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1574	20	0	1	0
chr11	67455491	67455491	C	T	exonic	CABP4	.	nonsynonymous SNV	CABP4:NM_145200:exon1:c.C68T:p.A23V,	Cone-rod synaptic disorder, congenital nonprogressive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1641434	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.0	B	0.128	N	1.000	N	-0.695	N	-0.24	T	-1.035	T	0.084	T	0.05	0.588	7.173	-4.66	-1.092	-0.976	3.488	0.058	0.042586688134	7.8e-05	.	4.637e-05	0	0.0001	0	0	6.234e-05	0	0	3.23e-05	5	154602	rs371921931	4.259e-05	4.378e-05	3.278e-05	5.251e-05	0.0006	3.39e-05	3.077e-05	0.0005	0.0004	0	0.0006	0	0	1.926e-05	0.0004	2.342e-05	4.987e-05	2.346e-05	0.0003	0.0003	0.0002	0.0003	0.0023	0.0002	0.0002	0.0017	0.0015	0	0	0.0023	0	0	0	0	5.881e-05	0	0	0.435	0.09401	T	0.286	0.21277	T	0.0	0.02946	B	0.0	0.01387	B	0.128297	0.02786	N	1.907910	1	0.08975	N	-0.255	0.03828	N	-0.24	0.66834	T	-0.27	0.11366	N	0.064	0.03613	-1.0351	0.18825	T	0.084	0.32900	T	10	0.01634577	0.00344	T	0.042587	0.60541	D	0.058	0.16647	.	.	0.43656330218	0.43278	0.1658108290071858	0.16501	0.067115271227	0.07497	0.339542806149	0.16370	T	0.070778	0.34046	T	-0.561919	0.00247	T	-0.676184	0.07219	T	0.00933659782798271	0.00119	T	0.447355	0.12562	T	0.020712702	0.00640	0.02943353	0.01280	0.019550644	0.00488	0.03239536	0.01968	-4.592	0.32071	T	.	.	0.076	0.06114	B	.	.	-0.448678	0.02037	0.184	0.64071664964472164	0.07394	0.00515	0.02406	N	AEFBI	0.034178	0.04190	N	-1.48093347379676	0.01984	0.08716396	-1.49994510465426	0.02345	0.1077259	0.85262374496987	0.25073	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.62	-4.66	0.03090	-0.868000	0.04345	-4.376000	0.02188	-0.427000	0.05212	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.4265:0.2544:0.0:0.3191	3.488	0.07189	698	0.58074	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	839.98	33	chr11	67455491	.	C	T	839.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.000e+00;DP=766;ExcessHet=0.0000;FS=0.946;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=-5.410e-01;SOR=0.498	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1115	20	0	1	0
chr11	67489405	67489405	G	A	exonic	AIP	.	nonsynonymous SNV	AIP:NM_001302959:exon3:c.G241A:p.A81T	Pituitary adenoma, ACTH-secreting, Autosomal recessive;Pituitary adenoma, growth hormone-secreting, Autosomal dominant, Somatic mutation;Pituitary adenoma, prolactin-secreting	.	0	1521	1	0	0	1	0.000328623	.	.	1047425	Hereditary_cancer-predisposing_syndrome|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	0.037	B	0.007	B	0.000	D	0.955	D	-0.345	N	-2.84	D	-0.247	T	0.475	T	0.229	3.328	17.19	5.54	2.601	4.419	18.038	0.312	0.137261162603	.	.	8.439e-06	0	0	0	0	0	0	6.069e-05	6.5e-06	1	154602	rs751771656	6.162e-06	6.156e-06	8.175e-06	4.129e-06	1.159e-05	2.9e-06	2.1e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.195e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.31682	T	0.034	0.52727	D	.	.	.	.	.	.	0.000129	0.49741	D	0.130688	0.954768	0.37893	D	.	.	.	-2.84	0.91305	D	-0.12	0.08809	N	0.21	0.23380	-0.2469	0.76443	T	0.475	0.79852	T	10	0.25717762	0.43130	T	0.137261	0.81975	D	0.312	0.63375	0.477	0.55502	0.581869756922	0.57858	0.2766826255512786	0.27581	0.345502311902	0.36457	0.33363199234	0.15482	T	0.01604	0.13338	T	-0.060767	0.42788	T	-0.22821	0.51945	T	0.344336162694068	0.26796	T	0.750125	0.37153	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.04316	B	.;.	.;.	3.851858	0.55800	23.7	0.99804453340787813	0.88906	0.91025	0.52714	D	AEFGBCI	0.763160	0.70035	D	-0.136109987679002	0.35828	2.062922	0.107447825690376	0.44928	2.765222	0.999999693871104	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	4.518000	0.60227	6.679000	0.56304	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:0.0:1.0:0.0	18.038	0.89233	754	0.51307	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	441.98	34	chr11	67489405	.	G	A	441.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.830;DP=766;ExcessHet=0.0000;FS=3.410;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.31;ReadPosRankSum=-2.500e-02;SOR=1.153	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1010	20	0	1	0
chr11	67522571	67522571	C	T	exonic	CABP2	.	nonsynonymous SNV	CABP2:NM_001318496:exon2:c.G202A:p.G68S	Deafness, autosomal recessive 93, Autosomal recessive	.	33	1472	16	1	0	18	0.00607698	.	.	444872	not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_93|CABP2-related_disorder|not_provided	MedGen:CN169374|MONDO:MONDO:0013963,MedGen:C3888355,OMIM:614899,Orphanet:90636|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.13	T	0.007	B	0.002	B	0.075	N	1.000	N	1.04	L	-0.7	T	-0.933	T	0.184	T	0.1	4.403	23.3	2.56	0.485	0.992	7.280	0.097	.	0.0048	0.000998403	0.0062	0.0023	0.0043	0.0014	0.0066	0.0102	0.0097	0.0033	0.0026584	411	154602	rs149431491	0.0057	0.0055	0.0057	0.0056	0.0062	0.0055	0.0055	0.0061	0.0060	0.0008	0.0017	0.0072	0.0033	0.0055	0.0044	0.0062	0.0052	0.0033	0.0039	0.0039	0.0041	0.0037	0.0057	0.0037	0.0035	0.0052	0.0051	0.0011	0.0219	0.0030	0.0066	0.0012	0.0039	0	0.0057	0.0033	0.0035	0.081	0.33418	T	0.057	0.46406	T	0.007	0.14184	B	0.002	0.06944	B	0.075243	0.02295	N	2.460050	1	0.81001	D	2.135	0.59519	M	-0.7	0.72785	T	-0.87	0.23590	N	0.136	0.13341	-0.9332	0.43665	T	0.184	0.53315	T	10	0.004790902	0.00101	T	.	.	.	0.097	0.27909	.	.	0.699979934741	0.69738	0.5352010225378678	0.53445	0.308797066295	0.33188	0.548922657967	0.45706	T	0.010193	0.09229	T	-0.483985	0.00701	T	-0.464819	0.26076	T	0.0141817241496034	0.00279	T	0.947205	0.79675	D	0.0847475	0.19628	0.066538766	0.13643	0.0796144	0.18197	0.06384177	0.12705	-3.873	0.21898	T	0.1747609890563113	0.22213	0.210	0.43707	B	.	.	3.764909	0.54042	23.4	0.99900904096595378	0.97275	0.26533	0.23020	N	AEFDBI	0.119447	0.23313	N	-0.505153510821562	0.21912	1.166393	-0.416290752821905	0.24519	1.343094	2.69972215534057E-5	0.03498	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.51	2.56	0.29842	0.686000	0.25072	3.092000	0.36283	0.599000	0.40250	0.002000	0.15269	1.000000	0.68203	0.999000	0.91618	0.0:0.7357:0.1697:0.0946	7.280	0.25478	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1199.98	36	chr11	67522571	.	C	T	1199.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.00;DP=788;ExcessHet=0.0000;FS=0.818;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=-1.850e-01;SOR=0.557	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1248	20	0	1	0
chr11	67608412	67608412	C	G	exonic	NDUFV1	.	nonsynonymous SNV	NDUFV1:NM_001166102:exon2:c.C62G:p.T21S	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.005	B	0.013	B	0.000	D	1.000	D	1.89	L	-1.19	T	-0.487	T	0.348	T	0.101	2.699	14.99	3.84	2.474	5.565	11.086	0.249	0.0237339634623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.21634	T	0.231	0.25438	T	0.005	0.12996	B	0.007	0.16460	B	0.000081	0.52346	D	0.167753	0.999951	0.81001	D	1.735	0.44892	L	-1.19	0.78427	T	-1.01	0.48850	N	0.342	0.40465	-0.4870	0.69115	T	0.348	0.71289	T	10	0.3319496	0.50409	T	0.023734	0.46713	T	0.249	0.55752	0.257	0.19845	0.822129434029	0.82045	0.6979377297507748	0.69734	0.238803893762	0.26431	0.763441562653	0.76443	T	0.245562	0.61488	T	-0.078465	0.39963	T	-0.350486	0.39149	T	0.744090855121613	0.42959	D	0.776122	0.40827	T	0.107709534	0.25468	0.062265858	0.12156	0.107709534	0.25468	0.062265858	0.12155	-6.651	0.51440	T	.	.	0.082	0.26576	B	.;.;.;.;.;.	.;.;.;.;.;.	3.411859	0.47334	22.4	0.98490803181232456	0.42096	0.97411	0.74579	D	AEFBI	0.809988	0.73335	D	0.0583570156422493	0.44526	2.725182	0.196330027643671	0.49646	3.165261	0.999999985050494	0.74766	0.732398	0.92422	0	0.685571	0.66316	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.77	3.84	0.43422	5.647000	0.67597	4.850000	0.45366	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.9063:0.0:0.0937	11.086	0.47306	774	0.48577	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05556	125.76	122	chr11	67608412	.	C	G	125.76	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-4.092e+00;DP=2510;ExcessHet=0.1072;FS=119.535;InbreedingCoeff=-0.1044;MLEAC=2;MLEAF=0.056;MQ=60.00;MQRankSum=0.00;QD=0.38;ReadPosRankSum=0.306;SOR=11.234	GT:AD:DP:GQ:PL	0/0:148,0:148:17:0,17,2483	16	0	2	3
chr11	67646962	67646962	C	T	exonic	ACY3	.	nonsynonymous SNV	ACY3:NM_080658:exon3:c.G82A:p.V28I,	.	.	409	1102	11	0	0	11	0.00496614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.021	B	0.034	B	0.000	N	1.000	D	0.785	N	-4.61	D	0.246	D	0.735	D	0.044	1.231	9.993	3.12	0.829	0.581	11.124	0.329	.	0.0069	0.00239617	0.0056	0.0118	0.0028	0	0.0015	0.0072	0.0032	0.0024	0.0029107	450	154602	rs115626671	0.0035	0.0035	0.0035	0.0035	0.0093	0.0034	0.0034	0.0084	0.0081	0.0093	0.0017	0.0127	0	0.0011	0.0033	0.0035	0.0043	0.0023	0.0049	0.0049	0.0053	0.0045	0.0090	0.0046	0.0045	0.0082	0.0079	0.0090	0	0.0032	0.0187	0.0002	0.0008	0.0102	0.0033	0.0052	0.0021	0.115	0.28520	T	0.335	0.18286	T	0.021	0.18474	B	0.034	0.22546	B	0.000068	0.52346	N	0.073899	0.990459	0.81001	D	0.86	0.21358	L	-4.61	0.97866	D	-0.4	0.13805	N	0.076	0.05037	0.246	0.86674	D	0.735	0.90940	D	10	0.0071730018	0.00163	T	.	.	.	0.329	0.65126	.	.	0.555237559564	0.55182	0.37514925391427195	0.37428	0.111891211403	0.12625	0.499867558479	0.38809	T	0.301984	0.67440	T	-0.342141	0.05241	T	-0.25642	0.49181	T	0.00913604347744883	0.00115	T	0.506749	0.16047	T	0.03603172	0.04356	0.07056556	0.15008	0.03603172	0.04356	0.07056556	0.15008	-5.763	0.44250	T	.	.	0.087	0.11027	B	.	.	-0.242587	0.02879	0.411	0.97025906347203561	0.32047	0.24917	0.22541	N	AEFGBHCIJ	0.231075	0.35436	N	-1.0672459585533	0.07253	0.3363872	-1.06451129399661	0.08407	0.413243	0.999999999999823	0.74766	0.393558	0.05922	0	0.518115	0.08659	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.03	3.12	0.34986	0.419000	0.20967	-2.831000	0.03316	-2.824000	0.00179	0.031000	0.20493	0.000000	0.08366	0.000000	0.00833	0.0:0.9047:0.0:0.0953	11.124	0.47529	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1258.98	34	chr11	67646962	.	C	T	1258.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.849e+00;DP=876;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.95;ReadPosRankSum=-9.680e-01;SOR=0.680	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	20	0	1	0
chr11	67663739	67663739	C	T	exonic	ALDH3B2	.	nonsynonymous SNV	ALDH3B2:NM_001031615:exon9:c.G896A:p.R299Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.059	B	0.037	B	0.092	N	1.000	N	0.985	L	-0.99	T	-0.963	T	0.205	T	0.071	0.432	6.349	1.8	0.352	-0.972	5.547	0.031	0.0200039406079	7.7e-05	.	7.728e-05	0.0002	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs368400737	3.973e-05	3.967e-05	3.678e-05	4.27e-05	0.0002	3.117e-05	2.85e-05	8.212e-05	5.793e-05	2.988e-05	0.0001	0.0007	0.0002	0	0.0002	1.351e-05	0.0002	2.321e-05	8.544e-05	8.537e-05	0.0001	5.381e-05	9.656e-05	4.958e-05	3.964e-05	3.25e-05	1.915e-05	9.656e-05	0	0	0.0017	0	0	0	2.94e-05	0.0005	0	0.374	0.11406	T	0.363	0.16815	T	0.059	0.23051	B	0.037	0.23121	B	0.091735	0.20310	N	0.493990	0.999977	0.18612	N	0.645	0.16088	N	-0.99	0.75911	T	-0.04	0.07590	N	0.263	0.29774	-0.9631	0.38586	T	0.205	0.56376	T	10	0.04536417	0.03599	T	0.020004	0.42500	T	0.031	0.07369	.	.	0.646832327391	0.64391	0.5168276532727841	0.51605	0.235134821444	0.26041	0.193114951253	0.00285	T	0.032394	0.22466	T	-0.404457	0.02164	T	-0.582083	0.14359	T	0.0220477535950442	0.00914	T	0.728627	0.34357	T	0.032112163	0.03176	0.030511642	0.01517	0.032112163	0.03175	0.030511642	0.01517	-6.328	0.48944	T	.	.	0.069	0.03443	B	.;.	.;.	0.461166	0.08307	5.057	0.97126820760704746	0.32482	0.04703	0.10392	N	AEFDBI	0.075803	0.15232	N	-0.925398350714307	0.10250	0.4889504	-0.956655425293621	0.10768	0.5445201	0.140066431176811	0.17256	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.71	1.8	0.24069	-0.823000	0.04550	-8.319000	0.00990	-0.304000	0.06167	0.000000	0.06391	0.000000	0.08366	0.123000	0.19290	0.1573:0.6601:0.0:0.1826	5.547	0.16354	774	0.48577	Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1645.98	41	chr11	67663739	.	C	T	1645.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=938;ExcessHet=0.0000;FS=4.250;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.86;ReadPosRankSum=1.40;SOR=0.419	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr11	67665318	67665318	C	G	exonic	ALDH3B2	.	nonsynonymous SNV	ALDH3B2:NM_001031615:exon7:c.G673C:p.G225R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	D	1.000	D	3.565	H	-2.11	D	0.810	D	0.826	D	0.56	2.682	14.93	3.24	1.078	5.569	11.656	0.665	0.37163078063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.006	0.70582	D	0.997	0.70673	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.945	0.96414	H	-2.11	0.86216	D	-7.65	0.95483	D	0.622	0.63713	0.810	0.94539	D	0.826	0.94161	D	10	0.92759204	0.92104	D	0.371631	0.92760	D	0.665	0.87527	0.745	0.87654	0.973820948239	0.97354	0.946104343734054	0.94592	0.843832590976	0.68192	0.61187171936	0.54581	T	0.447545	0.78977	T	0.186772	0.72665	D	0.0305088	0.72311	D	0.995519638061523	0.87564	D	0.982302	0.94028	D	0.8804521	0.89704	0.8785995	0.93463	0.8804521	0.89705	0.8785995	0.93464	-8.697	0.65726	D	.	.	0.604	0.69049	P	.;.	.;.	4.212062	0.63645	24.6	0.9988358054811135	0.95892	0.94636	0.61815	D	AEFDGBCI	0.764360	0.70117	D	0.565156093187591	0.71010	5.586322	0.387693354528932	0.60805	4.272352	0.999810259483584	0.43459	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.16	3.24	0.36257	3.897000	0.55986	4.395000	0.43227	0.596000	0.33519	0.998000	0.41325	1.000000	0.68203	0.121000	0.19209	0.0:0.9105:0.0:0.0895	11.656	0.50581	774	0.48577	Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2499.98	35	chr11	67665318	.	C	G	2499.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.694e+00;DP=918;ExcessHet=0.0000;FS=1.191;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.20;MQRankSum=-8.460e-01;QD=13.97;ReadPosRankSum=1.000e-03;SOR=0.799	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1320	20	0	1	0
chr11	67991847	67991847	G	A	exonic	UNC93B1	.	nonsynonymous SNV	UNC93B1:NM_030930:exon11:c.C1493T:p.A498V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.555	P	0.143	B	0.216	N	0.966	N	0.695	N	-1.41	T	-0.901	T	0.231	T	0.606	2.429	14.08	3.11	0.521	0.925	5.058	0.440	0.0403862860783	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1208815449	7.071e-07	1.779e-05	0	1.426e-06	9.108e-07	0	0	.	.	0	0	0	0	0	0	9.108e-07	0	0	0	3.283e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.017	0.60337	D	0.555	0.38231	P	0.143	0.33763	B	0.215761	0.16257	N	0.615302	0.966186	0.25905	N	1.825	0.47900	L	.	.	.	.	.	.	0.063	0.03502	-0.9012	0.47868	T	0.231	0.59670	T	10	0.1654081	0.30917	T	0.040386	0.59348	D	0.440	0.74377	0.405	0.43738	0.158540857583	0.15491	0.4060508217823503	0.40521	0.420604647903	0.42585	0.468714177608	0.34503	T	0.130211	0.45896	T	0.0184593	0.54173	T	-0.211261	0.53575	T	0.465876817703247	0.31380	T	0.768523	0.39806	T	0.015669458	0.00151	0.05196928	0.08468	0.015669458	0.00151	0.05196928	0.08468	-3.507	0.16529	T	.	.	0.091	0.12938	B	.	.	2.196021	0.28006	17.65	0.98856010622524326	0.47390	0.75494	0.36966	D	AEFBI	0.332490	0.43188	N	-0.502908379857113	0.21985	1.170775	-0.408011009313115	0.24762	1.357808	0.352282230603595	0.19695	0.732398	0.92422	0	0.743671	0.97443	0	0.693117	0.63056	0	0.567892	0.33627	0	.	.	4.98	3.11	0.34883	0.998000	0.29345	0.184000	0.15665	-0.243000	0.07376	0.536000	0.27236	0.000000	0.08366	0.886000	0.42526	0.1896:0.1734:0.6371:0.0	5.058	0.13880	693	0.58582	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	47.0	8	chr11	67991847	.	G	A	47.0	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-5.490e-01;DP=273;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0714;MLEAC=1;MLEAF=0.025;MQ=50.15;MQRankSum=-8.030e-01;QD=4.70;ReadPosRankSum=0.282;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:12,0:12:0:.:.:0,0,280	19	0	1	1
chr11	68019778	68019778	G	A	exonic	ALDH3B1	.	nonsynonymous SNV	ALDH3B1:NM_001030010:exon5:c.G433A:p.D145N	.	.	408	1101	12	1	0	14	0.00631769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0265866743732	0.0005	.	0.0006	0	0.0011	0	0	0.0007	0	0.0009	0.0005886	91	154602	rs199800006	0.0005	0.0005	0.0004	0.0006	0.0064	0.0005	0.0005	0.0048	0.0042	0.0001	0.0012	0.0030	0	0	0.0064	0.0004	0.0010	0.0010	0.0006	0.0006	0.0007	0.0006	0.0024	0.0005	0.0005	0.0017	0.0015	0.0002	0	0.0024	0.0035	0	0	0.0102	0.0005	0.0009	0.0004	.	.	.	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.833	0.83576	.	.	.	.	.	.	.	0.13522965	0.25734	T	0.026587	0.49484	D	.	.	.	.	0.615755702487	0.61265	0.7501604394370148	0.74963	.	.	0.641518831253	0.58780	T	0.49043	0.81523	T	-0.175585	0.24394	T	-0.0655253	0.65944	T	.	.	.	0.962904	0.97356	D	0.539987	0.69396	0.6602453	0.80094	0.539987	0.69397	0.6602453	0.80095	-8.444	0.64057	D	.	.	0.453	0.72254	A	.;.;.;.;.	.;.;.;.;.	5.545650	0.92002	32	0.91323325138506806	0.20585	0.96671	0.70321	D	AEFGBCI	0.937110	0.93442	D	.	.	.	.	.	.	0.999999999320779	0.74766	0.078448	0.01964	0	0.097471	0.02872	0	0.074216	0.02223	0	0.062806	0.01542	0	.	.	3.06	3.06	0.34374	6.587000	0.73960	9.378000	0.80495	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.779000	0.36868	0.0:0.0:1.0:0.0	12.028	0.52678	783	0.47268	Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1078.98	89	chr11	68019778	.	G	A	1078.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.22;DP=775;ExcessHet=0.0000;FS=2.787;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.12;ReadPosRankSum=-4.500e-02;SOR=0.799	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1067	20	0	1	0
chr11	68042754	68042754	G	A	exonic	TCIRG1	.	nonsynonymous SNV	TCIRG1:NM_006019:exon4:c.G308A:p.R103H,	Osteopetrosis, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1881447	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.984	D	0.000	D	1.000	D	2.09	M	-2.09	D	0.490	D	0.721	D	0.45	4.501	24.2	3.66	2.278	2.765	10.721	0.628	0.471687351411	.	.	8.089e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs775326246	3.512e-05	3.489e-05	2.829e-05	4.215e-05	0.0003	2.689e-05	2.422e-05	0.0002	0.0001	6.348e-05	2.805e-05	0	0	0	0.0002	2.226e-05	0	0.0003	3.286e-05	3.283e-05	1.285e-05	5.381e-05	0.0002	1.261e-05	7.98e-06	4.88e-06	1.83e-06	2.412e-05	0	6.542e-05	0	0	0	0	2.941e-05	0	0.0002	0.015	0.78490	D	0.021	0.61642	D	1.0	0.90584	D	0.984	0.76113	D	0.000034	0.55875	D	0.116224	0.999756	0.48800	D	1.845	0.48678	L	-2.09	0.86077	D	-2.81	0.65056	D	0.131	0.12627	0.490	0.90411	D	0.721	0.90433	D	10	0.5685036	0.65186	D	0.471687	0.94691	D	0.628	0.85666	0.533	0.64148	0.915946754987	0.91510	0.31148735903039576	0.31061	0.732161310165	0.62773	0.586467385292	0.50997	T	0.668014	0.90114	D	-0.117262	0.33571	T	-0.116072	0.62124	T	0.629450738430023	0.37595	D	0.881212	0.72366	D	0.19493483	0.41263	0.12061312	0.29107	0.19493483	0.41263	0.12061312	0.29106	-6.312	0.48817	T	0.20589536589764915	0.27481	0.096	0.16800	B	.;.;.	.;.;.	4.716616	0.75825	26.4	0.99951158544216956	0.99944	0.80619	0.40210	D	AEFDGBCI	0.465787	0.51371	N	0.536484189666425	0.69261	5.332198	0.471685334583433	0.66121	4.91098	0.999999981448716	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.6	3.66	0.41111	1.471000	0.34973	5.347000	0.48362	0.590000	0.31872	0.069000	0.22043	1.000000	0.68203	0.590000	0.31140	0.0992:0.0:0.9008:0.0	10.721	0.45240	783	0.47268	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	640.98	34	chr11	68042754	.	G	A	640.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=810;ExcessHet=0.0000;FS=2.363;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=-1.448e+00;SOR=0.395	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1144	20	0	1	0
chr11	68070217	68070217	T	A	exonic	CHKA	.	nonsynonymous SNV	CHKA:NM_001376220:exon5:c.A727T:p.N243Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.75	P	0.324	B	0.000	D	1.000	D	1.575	L	0.48	T	-0.932	T	0.137	T	0.509	2.595	14.64	4.14	0.835	2.560	8.386	0.189	0.0586293367493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.003	0.76473	D	0.425	0.43260	B	0.324	0.41853	B	0.000003	0.62929	D	0.100975	0.999996	0.58761	D	2.07	0.56829	M	0.48	0.55945	T	-4.6	0.78976	D	0.648	0.65930	-0.9317	0.43889	T	0.137	0.45356	T	10	0.54052204	0.63693	D	0.058629	0.67386	D	0.189	0.46613	0.625	0.76028	0.486257639955	0.48257	0.8039588721996498	0.80349	1.46632229311	0.86451	0.395748585463	0.24477	T	0.272527	0.64491	T	-0.0114371	0.50065	T	-0.254205	0.49402	T	0.980746328830719	0.73525	D	0.938306	0.76795	D	0.5840343	0.71828	0.44359836	0.67570	0.5840343	0.71829	0.44359836	0.67571	-9.755	0.73075	D	.	.	0.215	0.48541	B	.;.	.;.	3.267919	0.44723	22.0	0.98492086806567891	0.42108	0.98446	0.82862	D	AEFBI	0.429091	0.49235	N	0.0532610602778216	0.44291	2.705959	0.117198607211136	0.45428	2.806166	0.985506799101284	0.30899	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.27	4.14	0.47821	2.579000	0.45725	2.307000	0.32053	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1527:0.0:0.8473	8.386	0.31662	789	0.46346	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1049.98	76	chr11	68070217	.	T	A	1049.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.289e+00;DP=762;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=-8.510e-01;SOR=0.675	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1105	20	0	1	0
chr11	68120969	68120980	GGCAGCGGCAGC	-	exonic	CHKA	.	nonframeshift deletion	CHKA:NM_001277:exon1:c.198_209del:p.L67_P70del	.	.	396	1108	7	1	10	19	0.00404494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0.0006	0.0005	0.0008	0.0003	0	0	0.0001537	4	26028	rs745705209	0.0010	0.0008	0.0009	0.0011	0.0021	0.0009	0.0009	0.0011	0.0010	0.0007	0.0005	0.0002	0.0004	0.0014	0.0021	0.0010	0.0009	0.0004	0.0010	0.0010	0.0009	0.0010	0.0015	0.0009	0.0008	0.0012	0.0011	0.0006	0	0.0003	0.0009	0.0002	0.0011	0.0068	0.0015	0.0019	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	689.94	33	chr11	68120968	.	GGGCAGCGGCAGC	G	689.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.313e+00;DP=795;ExcessHet=0.0000;FS=5.327;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.25;ReadPosRankSum=1.62;SOR=0.185	GT:AD:DP:GQ:PL	0/0:38,0:38:98:0,98,1210	20	0	1	0
chr11	68157930	68157930	G	A	exonic	KMT5B	.	nonsynonymous SNV	KMT5B:NM_001369429:exon10:c.C1900T:p.L634F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.994	D	0.004	N	1.000	D	0.805	L	0.79	T	-0.793	T	0.190	T	0.442	2.969	15.90	5.71	2.710	4.994	13.092	0.154	0.0257435610724	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1176061323	2.052e-06	2.052e-06	4.084e-06	0	0.0003	5.5e-07	1.5e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.577	0.08594	T	.	.	.	.	.	.	0.003887	0.34365	N	0.233514	0.983482	0.40020	D	.	.	.	0.79	0.49068	T	-0.43	0.14390	N	0.459	0.49602	-0.7928	0.55566	T	0.190	0.54168	T	10	0.2975745	0.47318	T	0.025744	0.48703	D	0.154	0.40340	0.177	0.08379	0.102598925029	0.09809	0.19372614805189575	0.19290	0.845297082271	0.68270	0.449293255806	0.31847	T	.	.	.	-0.0565677	0.43443	T	-0.319032	0.42680	T	0.691178319495112	0.40302	D	0.887611	0.61581	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.33458	B	.;.	.;.	3.201282	0.43535	21.8	0.99852266826946989	0.93102	0.97807	0.77277	D	AEFBI	0.530181	0.55098	D	0.44768690777401	0.64071	4.653683	0.431406667905196	0.63533	4.588749	0.96700410522018	0.28945	0.706548	0.73137	0	0.708844	0.79440	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.71	5.71	0.89031	5.092000	0.64344	6.573000	0.55973	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.073:0.0:0.927:0.0	13.092	0.58587	764	0.49969	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2478.98	34	chr11	68157930	.	G	A	2478.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.194e+00;DP=882;ExcessHet=0.0000;FS=3.351;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=-1.055e+00;SOR=0.483	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1313	20	0	1	0
chr11	68158079	68158079	T	C	exonic	KMT5B	.	nonsynonymous SNV	KMT5B:NM_001369429:exon10:c.A1751G:p.N584S	.	.	426	1093	3	0	0	3	0.00137049	.	.	1166017	KMT5B-related_disorder|Inborn_genetic_diseases|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.049	B	0.012	B	0.000	N	1.000	D	0.345	N	1.11	T	-1.026	T	0.045	T	0.004	-0.160	3.220	1.53	0.317	2.882	8.659	0.116	0.00684216355873	0.0036	0.000599042	0.0028	0.0010	0.0017	0	0.0005	0.0044	0	0.0010	0.0028137	435	154602	rs144458991	0.0042	0.0042	0.0043	0.0041	0.0048	0.0041	0.0041	0.0047	0.0047	0.0007	0.0021	0.0112	0.0002	0.0008	0.0007	0.0048	0.0043	0.0006	0.0030	0.0030	0.0033	0.0027	0.0048	0.0028	0.0027	0.0044	0.0042	0.0010	0.0110	0.0016	0.0112	0.0002	0.0005	0.0034	0.0048	0.0043	0.0006	0.852	0.02725	T	0.484	0.11760	T	.	.	.	.	.	.	0.000374	0.45194	N	0.271361	0.974029	0.25514	N	.	.	.	1.11	0.38883	T	-0.54	0.16598	N	0.027	0.01658	-1.0257	0.21853	T	0.045	0.19275	T	10	0.0038720071	0.00073	T	0.006842	0.18093	T	0.116	0.32463	.	.	0.043077524339	0.03247	0.028166723049872104	0.02766	0.183051395071	0.20588	0.36893209815	0.20678	T	.	.	.	-0.636157	0.00088	T	-0.684238	0.06728	T	0.00811326173826174	0.00097	T	0.854315	0.54093	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.02228	B	.;.	.;.	0.915677	0.12904	9.413	0.59651277209332054	0.06274	0.70985	0.34820	D	AEFGBI	0.067377	0.13243	N	-0.761395207329862	0.14326	0.7126889	-0.620821909747217	0.18958	1.015108	0.0365862407972882	0.14251	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.636168	0.56350	0	.	.	5.32	1.53	0.22224	2.904000	0.48417	0.249000	0.16404	0.519000	0.23678	1.000000	0.71638	0.046000	0.21717	0.963000	0.52385	0.0:0.361:0.0:0.639	8.659	0.33243	764	0.49969	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	2769.98	34	chr11	68158079	.	T	C	2769.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.180e-01;DP=918;ExcessHet=0.0000;FS=0.486;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=0.397;SOR=0.735	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1313	20	0	1	0
chr11	68312749	68312749	-	GCT	exonic	LRP5	.	nonframeshift insertion	LRP5:NM_002335:exon1:c.35_36insGCT:p.L20_A21insL,	Exudative vitreoretinopathy 4, Autosomal recessive, Autosomal dominant;Hyperostosis, endosteal, Autosomal dominant;Osteopetrosis, autosomal dominant 1, Autosomal dominant;Osteoporosis-pseudoglioma syndrome, Autosomal recessive;Osteosclerosis, Autosomal dominant;van Buchem disease, type 2, Autosomal dominant	.	26	179	10	6	5	27	0.0578947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	951.96	12	chr11	68312746	.	CGCT	CGCTGCT,C	951.96	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=-8.330e-01;DP=282;ExcessHet=1.1607;FS=1.068;InbreedingCoeff=-0.1413;MLEAC=4,1;MLEAF=0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=18.67;ReadPosRankSum=0.100;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:15,0,0:15:45:.:.:0,45,411,45,411,411	16	0	4	0
chr11	68357679	68357679	C	T	exonic	LRP5	.	nonsynonymous SNV	LRP5:NM_002335:exon3:c.C518T:p.T173M,	Exudative vitreoretinopathy 4, Autosomal recessive, Autosomal dominant;Hyperostosis, endosteal, Autosomal dominant;Osteopetrosis, autosomal dominant 1, Autosomal dominant;Osteoporosis-pseudoglioma syndrome, Autosomal recessive;Osteosclerosis, Autosomal dominant;van Buchem disease, type 2, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	656079	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.985	D	0.75	P	0.004	U	0.935	N	0.865	L	-3.86	D	0.283	D	0.785	D	0.694	2.208	13.34	1.67	0.495	0.181	10.431	0.607	0.21634041609	0.0006	0.000199681	0.0004	0.0009	9.024e-05	0.0015	0	0.0002	0	0.0004	0.0003752	58	154602	rs80358306	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	0.0004	0.0004	0.0008	0.0006	1.872e-05	0.0003	0.0002	0.0005	0.0005	0.0005	0.0005	0.0005	0.0005	0.0027	0.0004	0.0004	0.0016	0.0013	0.0008	0	0.0003	0.0009	0.0027	0	0	0.0002	0	0.0012	0.108	0.29420	T	0.226	0.25438	T	0.985	0.61118	D	0.75	0.56031	P	0.004093	0.34125	U	0.121287	0.0650809	0.26958	A	0.915	0.23335	L	-3.86	0.95891	D	-0.41	0.14000	N	0.713	0.71587	0.283	0.87286	D	0.785	0.92687	D	10	0.74761367	0.75402	D	0.21634	0.87553	D	0.607	0.84559	.	.	0.832132573608	0.83053	0.46446226189846984	0.46365	0.541816848093	0.51312	0.356171399355	0.18827	T	0.575265	0.86003	D	-0.116914	0.33629	T	0.0559205	0.73974	D	0.013185242503559	0.00233	T	0.482752	0.14626	T	0.026173577	0.01642	0.04735288	0.06801	0.026173577	0.01642	0.04735288	0.06801	-6.587	0.50953	T	0.2430616354072601	0.32923	0.061	0.01042	B	.	.	2.895196	0.38354	20.7	0.99656327618987361	0.77631	0.16534	0.19433	N	AEFDGBI	0.125916	0.24263	N	-0.363583619645788	0.26775	1.463941	-0.454995917046379	0.23407	1.276338	0.796711430718976	0.24113	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.56	1.67	0.23149	-0.110000	0.10794	1.351000	0.25808	-0.193000	0.09282	0.000000	0.06391	0.782000	0.26788	0.934000	0.47231	0.0:0.8325:0.0:0.1675	10.431	0.43595	511	0.75131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1300.98	38	chr11	68357679	.	C	T	1300.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=797;ExcessHet=0.0000;FS=10.193;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=0.192;SOR=1.665	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr11	68390002	68390002	C	G	exonic	LRP5	.	nonsynonymous SNV	LRP5:NM_002335:exon7:c.C1534G:p.L512V,	Exudative vitreoretinopathy 4, Autosomal recessive, Autosomal dominant;Hyperostosis, endosteal, Autosomal dominant;Osteopetrosis, autosomal dominant 1, Autosomal dominant;Osteoporosis-pseudoglioma syndrome, Autosomal recessive;Osteosclerosis, Autosomal dominant;van Buchem disease, type 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1400524	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.23	T	0.727	P	0.593	P	0.030	U	0.977	D	1.295	L	-2.8	D	0.142	D	0.648	D	0.216	2.438	14.11	2.38	0.981	2.183	11.243	0.364	0.0907175989367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	4.084e-06	0	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.17014	T	0.338	0.18125	T	0.727	0.42493	P	0.593	0.50536	P	0.029885	0.25388	U	0.176683	0.977384	0.39362	D	1.395	0.35261	L	-2.8	0.91076	D	-0.69	0.19720	N	0.485	0.51940	0.142	0.84916	D	0.648	0.87711	D	10	0.5700589	0.65268	D	0.090718	0.75571	D	0.364	0.68407	0.532	0.64002	0.521133362369	0.51758	0.48573491590428614	0.48493	0.513034352344	0.49312	0.515314757824	0.40968	T	0.567731	0.85636	D	-0.0167551	0.49314	T	-0.261844	0.48640	T	0.350177705287933	0.27026	T	0.839616	0.51418	T	0.057007678	0.11291	0.06855427	0.14330	0.057007678	0.11291	0.06855427	0.14330	-6.602	0.51068	T	0.15180928292864604	0.17939	0.092	0.13503	B	.	.	3.453770	0.48109	22.6	0.9958451745229433	0.73218	0.92045	0.54823	D	AEFGBI	0.667450	0.63557	D	0.0763269053429561	0.45361	2.79384	0.0655121972587243	0.42828	2.597388	0.997706946322691	0.35927	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.3	2.38	0.28415	1.207000	0.31938	0.245000	0.16356	0.599000	0.40250	0.993000	0.37899	0.000000	0.08366	0.997000	0.79791	0.0:0.907:0.0:0.093	11.243	0.48211	580	0.69689	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1254.98	40	chr11	68390002	.	C	G	1254.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.987e+00;DP=841;ExcessHet=0.0000;FS=0.792;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=0.711;SOR=0.551	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr11	68684970	68684970	C	T	exonic	GAL	.	nonsynonymous SNV	GAL:NM_015973:exon2:c.C47T:p.A16V,	.	.	376	1129	17	0	0	17	0.00747253	.	.	461414	Familial_temporal_lobe_epilepsy_8|GAL-related_disorder	MONDO:MONDO:0014650,MedGen:C4225318,OMIM:616461,Orphanet:101046|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.004	B	0.003	B	0.004	N	1.000	N	0.63	N	0.75	T	-1.071	T	0.048	T	0.16	0.135	4.724	-0.281	-0.327	0.007	5.742	0.022	.	0.0075	0.00319489	0.0093	0.0036	0.0036	0	0.0174	0.0147	0.0091	0.0006	0.0002689	7	26028	rs34725707	0.0094	0.0094	0.0095	0.0092	0.0158	0.0092	0.0092	0.0131	0.0121	0.0018	0.0038	0.0178	5.053e-05	0.0090	0.0158	0.0107	0.0084	0.0008	0.0078	0.0078	0.0084	0.0071	0.0117	0.0074	0.0073	0.0110	0.0108	0.0022	0.0581	0.0055	0.0161	0	0.0070	0.0340	0.0117	0.0080	0.0014	0.074	0.34621	T	0.211	0.26631	T	0.004	0.12183	B	0.003	0.08700	B	0.004420	0.33773	N	0.175343	1	0.08975	N	0.625	0.15840	N	0.75	0.50192	T	-2.08	0.47514	N	0.294	0.33250	-1.0705	0.09304	T	0.048	0.20672	T	10	0.0037229955	0.00069	T	.	.	.	0.022	0.04323	.	.	0.266385636622	0.26244	0.46524765153598124	0.46443	0.124533949667	0.14028	0.759079813957	0.75793	T	0.267734	0.63980	T	-0.561301	0.00249	T	-0.568016	0.15631	T	0.0035308506453494	0.00037	T	0.50155	0.15709	T	0.05087655	0.09258	0.08119726	0.18433	0.050707705	0.09200	0.093469195	0.22078	-4.662	0.32941	T	0.2107107631511819	0.28236	0.153	0.33755	B	.	.	0.973316	0.13505	10.03	0.96283159077788261	0.29289	0.07220	0.13244	N	AEFDGBHCI	0.053037	0.09522	N	-1.26434989333123	0.04113	0.1850227	-1.32421258392229	0.04119	0.1936277	0.999892411868818	0.45129	0.766844	0.99359	0	0.610034	0.51514	0	0.851219	0.99655	0	0.604282	0.37693	0	.	.	2.89	-0.281	0.12244	-0.012000	0.12637	-0.275000	0.10316	-0.383000	0.05380	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.6006:0.0:0.3994	5.742	0.17366	809	0.43032	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	382.98	33	chr11	68684970	.	C	T	382.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.960e-01;DP=758;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.23;ReadPosRankSum=-1.809e+00;SOR=0.638	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,927	20	0	1	0
chr11	68933827	68933827	C	T	exonic	IGHMBP2	.	nonsynonymous SNV	IGHMBP2:NM_002180:exon10:c.C1451T:p.T484M,	Charcot-Marie-Tooth disease, axonal, type 2S, Autosomal recessive;Neuronopathy, distal hereditary motor, type VI, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	640414	Autosomal_recessive_distal_spinal_muscular_atrophy_1|Charcot-Marie-Tooth_disease_axonal_type_2S|not_provided	MONDO:MONDO:0011436,MedGen:C1858517,OMIM:604320,Orphanet:98920|MONDO:MONDO:0014511,MedGen:C4015349,OMIM:616155,Orphanet:443073|MedGen:CN517202	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.997	D	0.001	D	1.000	D	2.375	M	-3.06	D	0.902	D	0.859	D	0.606	3.045	16.16	4.73	2.168	7.072	14.654	0.636	0.369786927219	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1170552394	2.191e-05	2.189e-05	3.134e-05	1.239e-05	0.0002	1.586e-05	1.357e-05	1.627e-05	1.383e-05	2.99e-05	2.244e-05	0	0	0	0.0002	2.339e-05	3.319e-05	1.165e-05	2.63e-05	2.627e-05	3.856e-05	1.347e-05	7.243e-05	8.15e-06	5.14e-06	1.921e-05	1.032e-05	7.243e-05	0	0	0	0	0	0	1.47e-05	0	0	0.011	0.55530	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	0.000790	0.41772	D	0.217938	0.999999	0.58761	D	2.17	0.60663	M	-3.06	0.92457	D	-4.54	0.78472	D	0.742	0.74189	0.902	0.95705	D	0.859	0.95312	D	10	0.8618667	0.85410	D	0.369787	0.92718	D	0.636	0.86078	0.271	0.22052	0.964217623183	0.96383	0.7165529046099998	0.71598	0.768364881018	0.64644	0.591371178627	0.51687	T	0.674228	0.90364	D	0.12028	0.66400	D	0.017862	0.71491	D	0.918406471139502	0.57665	D	0.948005	0.79945	D	0.6326134	0.74437	0.542944	0.73582	0.6326134	0.74438	0.542944	0.73583	-8.973	0.67523	D	0.8419603622042284	0.91026	0.353	0.56754	A	.	.	4.691120	0.75173	26.3	0.99888943386504947	0.96359	0.99585	0.97709	D	AEFDBI	0.765065	0.70167	D	0.605601653917732	0.73526	5.980932	0.500300464865258	0.68012	5.161593	0.999999992846048	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.645312	0.48771	0	0.491896	0.07777	0	.	.	4.73	4.73	0.59485	7.144000	0.76943	7.406000	0.58608	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:1.0:0.0:0.0	14.654	0.68425	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1728.98	35	chr11	68933827	.	C	T	1728.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.967;DP=846;ExcessHet=0.0000;FS=1.510;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.17;ReadPosRankSum=0.150;SOR=0.850	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	20	0	1	0
chr11	68936492	68936492	C	T	exonic	IGHMBP2	.	nonsynonymous SNV	IGHMBP2:NM_002180:exon13:c.C2012T:p.T671M,	Charcot-Marie-Tooth disease, axonal, type 2S, Autosomal recessive;Neuronopathy, distal hereditary motor, type VI, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	564899	Inborn_genetic_diseases|Autosomal_recessive_distal_spinal_muscular_atrophy_1|Charcot-Marie-Tooth_disease_axonal_type_2S	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011436,MedGen:C1858517,OMIM:604320,Orphanet:98920|MONDO:MONDO:0014511,MedGen:C4015349,OMIM:616155,Orphanet:443073	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.752	P	0.186	B	0.000	N	1.000	N	0.695	N	-2.7	D	-0.378	T	0.488	T	0.096	1.074	9.383	-0.619	0.083	0.908	4.101	0.240	0.0881282425376	7.7e-05	.	2.491e-05	0	0	0	0	4.538e-05	0	0	1.94e-05	3	154602	rs377743886	5.269e-05	5.267e-05	5.855e-05	4.677e-05	6.295e-05	4.279e-05	3.954e-05	5.074e-05	4.653e-05	2.987e-05	0	0	2.519e-05	0	0	6.295e-05	6.624e-05	1.159e-05	1.314e-05	1.313e-05	1.285e-05	1.344e-05	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	0.2	0.20381	T	0.255	0.23365	T	0.752	0.43309	P	0.186	0.36104	B	0.000092	0.00436	N	31.798500	1	0.08975	N	0.41	0.12415	N	-2.7	0.90509	D	-0.62	0.18248	N	0.112	0.09914	-0.3783	0.72704	T	0.488	0.80496	T	10	0.1111044	0.20792	T	0.088128	0.75073	D	0.240	0.54500	.	.	0.771949967676	0.76985	0.30291212209905927	0.30204	0.242229722905	0.26737	0.369507104158	0.20762	T	0.16215	0.50669	T	-0.212851	0.18979	T	-0.413071	0.31872	T	0.198545381426811	0.20335	T	0.255674	0.03967	T	0.017096892	0.00246	0.026728285	0.00779	0.017096892	0.00245	0.026728285	0.00779	-6.805	0.52596	T	.	.	0.092	0.13597	B	.	.	0.590459	0.09587	6.364	0.96073008159028672	0.28629	0.23661	0.22148	N	AEFDBI	0.071927	0.14337	N	-0.888123882011097	0.11125	0.5351733	-1.01817831982692	0.09385	0.4666485	0.297626576186205	0.19155	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.86	-0.619	0.10991	0.465000	0.21715	-1.633000	0.05020	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3564:0.3364:0.3072	4.101	0.09488	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1533.98	98	chr11	68936492	.	C	T	1533.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=1525;ExcessHet=0.0000;FS=1.534;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=-1.500e-02;SOR=0.516	GT:AD:DP:GQ:PL	0/0:80,0:80:99:0,120,1800	20	0	1	0
chr11	68939585	68939585	C	T	exonic	IGHMBP2	.	nonsynonymous SNV	IGHMBP2:NM_002180:exon15:c.C2836T:p.R946W,	Charcot-Marie-Tooth disease, axonal, type 2S, Autosomal recessive;Neuronopathy, distal hereditary motor, type VI, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	244695	Charcot-Marie-Tooth_disease|Inborn_genetic_diseases|not_specified|Autosomal_recessive_distal_spinal_muscular_atrophy_1|Charcot-Marie-Tooth_disease_axonal_type_2S	MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0011436,MedGen:C1858517,OMIM:604320,Orphanet:98920|MONDO:MONDO:0014511,MedGen:C4015349,OMIM:616155,Orphanet:443073	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.936	D	0.000	D	1.000	D	2.045	M	0.91	T	-0.649	T	0.206	T	0.825	3.685	18.73	2.39	2.054	1.364	12.226	0.336	.	.	0.00199681	0.0011	0	0	0	0	1.554e-05	0.0011	0.0075	0.0009056	140	154602	rs373943338	0.0004	0.0004	0.0003	0.0006	0.0065	0.0004	0.0004	0.0060	0.0058	2.988e-05	0	0	0.0003	0	0.0002	7.194e-06	0.0005	0.0065	0.0003	0.0003	0.0001	0.0004	0.0077	0.0002	0.0002	0.0057	0.0050	0	0	0	0	0.0004	0	0	1.47e-05	0	0.0077	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.936	0.67150	D	0.000491	0.43931	D	0.161449	0.998454	0.44939	D	2.295	0.65404	M	0.91	0.44856	T	-3.59	0.69236	D	0.396	0.43706	-0.6493	0.62745	T	0.206	0.56403	T	10	0.009153038	0.00207	T	.	.	.	0.336	0.65816	0.473	0.54859	0.646692631277	0.64376	0.453219231315729	0.45239	0.765212149716	0.64460	0.641802251339	0.58821	T	0.423649	0.77433	T	-0.216202	0.18514	T	-0.0794697	0.64943	T	0.090483919984996	0.11275	T	0.957038	0.83775	D	0.29271874	0.52244	0.32100776	0.58052	0.29271874	0.52244	0.32100776	0.58051	-10.341	0.75928	D	0.8426057206980166	0.91077	0.170	0.37407	B	.	.	5.075698	0.84675	28.4	0.99920812002372428	0.98721	0.80007	0.39762	D	AEFGBI	0.567769	0.57322	D	0.443743885921291	0.63848	4.626754	0.367690406618419	0.59579	4.137104	0.449626563191079	0.20528	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.54	2.39	0.28492	1.069000	0.30252	3.181000	0.36657	0.469000	0.21855	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.2659:0.7341:0.0:0.0	12.226	0.53773	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1431.98	34	chr11	68939585	.	C	T	1431.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.51;DP=822;ExcessHet=0.0000;FS=0.749;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.18;ReadPosRankSum=-2.319e+00;SOR=0.647	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr11	70103157	70103157	C	T	exonic	ANO1	.	nonsynonymous SNV	ANO1:NM_001378094:exon3:c.C533T:p.T178M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.998	D	0.000	D	1.000	D	0.955	L	-0.27	T	-0.452	T	0.359	T	0.805	3.425	17.58	5.27	2.474	7.103	17.917	0.357	0.0363570213742	0.0002	.	4.693e-05	0	0.0001	0	0	4.212e-05	0	8.269e-05	3.23e-05	5	154602	rs375072440	3.979e-05	4.104e-05	4.093e-05	3.864e-05	0.0003	3.122e-05	2.855e-05	6.094e-05	2.841e-05	0	4.517e-05	0	0	0	0.0003	4.144e-05	6.64e-05	4.696e-05	3.945e-05	4.594e-05	2.573e-05	5.379e-05	0.0004	1.716e-05	1.13e-05	6.842e-05	2.863e-05	2.411e-05	0	0	0	0.0004	0	0	4.411e-05	0	0	0.562	0.22224	T	0.304	0.31026	T	1.0	0.90584	D	0.996	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.24	0.30952	L	-0.27	0.67367	T	-3.41	0.74269	D	0.805	0.80964	-0.4519	0.70338	T	0.359	0.72116	T	9	0.7800008	0.77774	D	0.036357	0.56939	D	0.357	0.67782	.	.	0.457320397359	0.45357	0.556350770061099	0.55562	1.28113235318	0.82534	0.671795427799	0.63094	T	0.150714	0.49032	T	0.036503	0.56585	T	-0.00627043	0.69927	D	0.837269008159637	0.49106	D	0.953205	0.83579	D	0.21467215	0.43879	0.14770426	0.34944	0.21467215	0.43879	0.14770426	0.34943	-10.621	0.78823	D	.	.	0.431	0.79230	A	.;.;.	.;.;.	4.093997	0.60998	24.3	0.99862310811723443	0.94093	0.97989	0.78678	D	AEFBI	0.819306	0.74036	D	0.403764390361288	0.61629	4.366605	0.350222828852446	0.58519	4.023067	0.999999998921506	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.27	5.27	0.73797	7.144000	0.76943	7.587000	0.61135	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.027000	0.12703	0.0:1.0:0.0:0.0	17.917	0.88874	900	0.24599	Anoctamin, dimerisation domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1307.98	56	chr11	70103157	.	C	T	1307.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.662;DP=1378;ExcessHet=0.0000;FS=1.402;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.83;ReadPosRankSum=0.270;SOR=0.831	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	20	0	1	0
chr11	70325524	70325524	C	T	exonic	PPFIA1	.	nonsynonymous SNV	PPFIA1:NM_001378006:exon5:c.C556T:p.L186F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.942	P	0.843	P	0.006	U	0.995	D	2.24	M	0.98	T	-0.730	T	0.200	T	0.627	3.831	19.45	4.19	1.138	1.407	8.525	0.209	0.0205606230066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.386e-06	2.053e-06	0	2.781e-06	1.826e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.826e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.064	0.44905	T	0.559	0.52977	P	0.701	0.60313	P	0.006406	0.32054	U	0.193970	0.99496	0.42488	D	2.265	0.64440	M	0.98	0.42122	T	-3.35	0.66436	D	0.739	0.73916	-0.7296	0.58984	T	0.200	0.55555	T	10	0.48158023	0.60463	T	0.020561	0.43179	T	0.209	0.49871	0.259	0.20159	0.424008860402	0.42018	0.3626377871181502	0.36177	0.76799639243	0.64618	0.812693417072	0.83906	D	0.413768	0.76753	T	-0.014331	0.49658	T	-0.258362	0.48987	T	0.979316532611847	0.72768	D	0.988601	0.96130	D	0.25011766	0.48012	0.34691197	0.60353	0.25011766	0.48012	0.34691197	0.60353	-13.736	0.92167	D	.	.	0.829	0.78989	P	.;.	.;.	4.159751	0.62465	24.5	0.99873922477131083	0.95160	0.89456	0.49932	D	AEFBI	0.153597	0.27848	N	0.259333758224046	0.54102	3.576677	0.203659963657009	0.50049	3.20118	0.999990652356261	0.74766	0.732398	0.92422	0	0.546412	0.12157	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.12	4.19	0.48645	1.191000	0.31747	4.531000	0.43726	0.530000	0.24713	0.606000	0.27796	1.000000	0.68203	0.990000	0.65344	0.154:0.7697:0.0:0.0763	8.525	0.32462	653	0.62661	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1382.98	33	chr11	70325524	.	C	T	1382.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.406;DP=854;ExcessHet=0.0000;FS=3.498;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.69;ReadPosRankSum=-4.470e-01;SOR=0.444	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1102	20	0	1	0
chr11	70354421	70354421	G	A	exonic	PPFIA1	.	nonsynonymous SNV	PPFIA1:NM_003626:exon17:c.G2284A:p.V762I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.214	B	0.041	B	0.088	N	0.880	N	0	N	0.88	T	-1.089	T	0.026	T	0.133	2.033	12.75	4.44	2.526	1.945	10.713	0.022	.	.	0.00319489	0.0010	0.0002	0	0.0120	0	0.0001	0.0022	0.0005	0.0009638	149	154602	rs149670968	0.0005	0.0005	0.0005	0.0005	0.0130	0.0004	0.0004	0.0121	0.0117	0.0007	8.947e-05	0	0.0130	5.62e-05	0.0007	4.407e-05	0.0006	0.0007	0.0007	0.0007	0.0005	0.0009	0.0166	0.0006	0.0005	0.0137	0.0127	0.0002	0	0	0.0003	0.0166	0	0	5.883e-05	0.0005	0.0008	0.404	0.10345	T	0.407	0.14961	T	0.214	0.30086	B	0.03	0.23986	B	0.087619	0.20524	N	0.468411	0.879842	0.28068	N	1.995	0.54099	M	0.88	0.46028	T	-0.22	0.10480	N	0.23	0.25867	-1.0889	0.05718	T	0.026	0.10954	T	10	0.0060353875	0.00136	T	.	.	.	0.022	0.04323	.	.	0.386522206555	0.38262	0.18564264721917506	0.18482	0.178067386009	0.20030	0.298734903336	0.10213	T	0.011092	0.09944	T	-0.559246	0.00256	T	-0.561815	0.16208	T	0.0105159783371084	0.00146	T	0.934307	0.75413	D	0.026859077	0.01798	0.033754386	0.02324	0.026859077	0.01798	0.033754386	0.02324	-7.232	0.56586	T	.	.	0.082	0.10400	B	.;.	.;.	3.481596	0.48618	22.6	0.9884169904547021	0.47135	0.97291	0.73831	D	AEFDBI	0.256233	0.37520	N	-0.260151491984826	0.30700	1.714277	-0.0665607170397991	0.36781	2.145014	0.44554853762262	0.20492	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	4.44	0.53164	2.015000	0.40581	6.553000	0.55917	0.676000	0.76740	0.988000	0.36536	0.999000	0.35428	0.922000	0.45779	0.147:0.0:0.853:0.0	10.713	0.45194	764	0.49969	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1579.98	35	chr11	70354421	.	G	A	1579.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.23;ReadPosRankSum=0.458;SOR=0.727	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1268	20	0	1	0
chr11	70365942	70365942	A	G	exonic	PPFIA1	.	nonsynonymous SNV	PPFIA1:NM_001378006:exon25:c.A3035G:p.E1012G,	.	.	.	.	.	.	.	.	.	0.8866	0.762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	35.68	2	chr11	70365942	.	A	G	35.68	.	AC=2;AF=0.077;AN=26;DP=58;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2898;MLEAC=2;MLEAF=0.077;MQ=60.00;QD=17.84;SOR=0.693	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,49	12	1	0	8
chr11	70473146	70473146	G	A	exonic	SHANK2	.	nonsynonymous SNV	SHANK2:NM_133266:exon11:c.C3509T:p.A1170V	.	.	.	.	.	.	.	.	.	.	.	2813456	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.31	T	0.012	B	0.006	B	0.001	N	0.998	D	0.69	N	3.07	T	-1.091	T	0.056	T	0.278	1.506	10.98	1.76	0.063	0.828	5.099	0.037	0.00694502000381	.	.	4.12e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs782764781	5.267e-05	5.267e-05	3.948e-05	6.6e-05	0.0006	4.277e-05	3.952e-05	0.0004	0.0004	2.987e-05	0	0	0	0	0.0002	1.978e-05	8.279e-05	0.0006	4.599e-05	4.597e-05	1.284e-05	8.07e-05	0.0010	2.109e-05	1.527e-05	0.0004	0.0003	0	0	0	0	0	0	0	2.94e-05	0	0.0010	0.272	0.15930	T	0.602	0.36765	T	0.008	0.14655	B	0.006	0.12133	B	0.000661	0.42656	N	0.259771	0.998039	0.22385	N	.	.	.	2.35	0.49358	T	-1.08	0.28084	N	0.02	0.06454	-1.0905	0.05449	T	0.056	0.23715	T	10	0.030779183	0.01206	T	0.006945	0.18374	T	0.037	0.09474	.	.	0.102598925029	0.09809	0.4613013275029344	0.46048	0.861284270804	0.68974	0.406185626984	0.25928	T	0.023892	0.18153	T	-0.400041	0.02313	T	-0.490441	0.23345	T	0.0423901602625847	0.04127	T	0.714029	0.33490	T	.	.	.	.	.	.	.	.	-4.403	0.29598	T	.	.	0.071	0.07650	B	.;.;.;.;.	.;.;.;.;.	1.340425	0.17468	13.18	0.93534170633223579	0.23357	0.54628	0.29662	D	AEFDBI	0.128982	0.24698	N	-0.924563828903588	0.10269	0.4899436	-0.798722420796635	0.14526	0.7594493	0.839347643957352	0.24837	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.91	1.76	0.23776	1.128000	0.30982	0.765000	0.21347	-0.704000	0.03997	0.941000	0.32681	0.069000	0.22184	0.953000	0.50222	0.323:0.1392:0.5377:0.0	5.099	0.14085	934	0.15400	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1726.98	33	chr11	70473146	.	G	A	1726.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=819;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=1.47;SOR=0.664	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1153	20	0	1	0
chr11	70490353	70490353	G	A	exonic	SHANK2	.	nonsynonymous SNV	SHANK2:NM_133266:exon8:c.C710T:p.T237M	.	.	0	1516	6	0	0	6	0.00197498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.999	D	0.857	P	0.001	D	0.997	D	1.39	L	3.08	T	-0.636	T	0.272	T	0.344	3.705	18.82	4.63	2.109	8.741	17.500	0.150	0.0178312256081	.	.	9.065e-05	0	0.0003	0	0	8.998e-05	0	0.0001	7.12e-05	11	154602	rs782271440	3.147e-05	3.215e-05	3.403e-05	2.888e-05	0.0005	2.412e-05	2.157e-05	0.0001	7.541e-05	5.974e-05	6.708e-05	0	0	0	0.0005	2.698e-05	1.656e-05	8.115e-05	1.314e-05	1.313e-05	1.284e-05	1.344e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.077	0.42783	T	0.088	0.42794	T	0.997	0.70673	D	0.857	0.61067	P	0.000926	0.41028	D	0.249192	0.997257	0.43744	D	.	.	.	2.37	0.58613	T	-2.12	0.48523	N	0.535	0.62188	-0.6362	0.63308	T	0.272	0.64318	T	10	0.23871708	0.40999	T	0.017831	0.39680	T	0.150	0.39571	.	.	0.322284741503	0.31843	0.5934812246955521	0.59278	1.14325732967	0.78998	0.669621050358	0.62784	T	0.030714	0.24991	T	-0.2082	0.19633	T	-0.277162	0.47095	T	0.28560483455658	0.24406	T	0.978302	0.93146	D	.	.	.	.	.	.	.	.	-4.614	0.48004	T	.	.	0.127	0.30076	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.456051	0.91107	32	0.9980375986475476	0.88817	0.95981	0.66997	D	AEFDGBHCI	0.882562	0.81077	D	0.473941887465156	0.65575	4.839564	0.465575854953674	0.65724	4.860001	0.999999983537834	0.74766	0.634777	0.41761	0	0.762322	0.99553	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.63	4.63	0.57175	8.816000	0.91604	11.534000	0.93101	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:1.0:0.0	17.500	0.87625	934	0.15400	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1719.98	132	chr11	70490353	.	G	A	1719.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=830;ExcessHet=0.0000;FS=3.146;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=-7.090e-01;SOR=1.014	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1393	20	0	1	0
chr11	70798550	70798550	C	T	exonic	SHANK2	.	nonsynonymous SNV	SHANK2:NM_001379226:exon4:c.G533A:p.S178N	.	.	0	1508	14	0	0	14	0.00462046	.	.	2813475	SHANK2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.11	T	0.997	D	0.99	D	0.000	U	1.000	D	2.055	M	3.0	T	-1.149	T	0.054	T	0.21	4.215	21.9	4.44	2.016	5.177	14.004	0.145	0.0309722428644	0.0028	0.00339457	0.0039	0.0033	0.0073	0	0	0.0054	0.0052	0.0029	0.0009573	148	154602	rs141184740	0.0027	0.0024	0.0027	0.0027	0.0093	0.0026	0.0025	0.0075	0.0070	0.0087	0.0049	0.0123	0	4.082e-05	0.0093	0.0018	0.0060	0.0028	0.0037	0.0037	0.0037	0.0038	0.0069	0.0035	0.0034	0.0059	0.0055	0.0062	0	0.0069	0.0124	0	0	0.0068	0.0019	0.0114	0.0021	.	.	.	0.042	0.50226	D	0.997	0.70673	D	0.99	0.78936	D	0.000066	0.52346	U	0.073330	0.969965	0.38764	D	.	.	.	3.0	0.09167	T	.	.	.	0.686	0.69213	-1.1491	0.01052	T	0.054	0.22883	T	10	0.01044476	0.00232	T	0.030972	0.53161	D	.	.	.	.	0.353785824208	0.34994	.	.	.	.	0.851025700569	0.89770	D	.	.	.	-0.543089	0.00321	T	-0.549439	0.17381	T	0.0192810455869317	0.00634	T	0.90091	0.65583	D	.	.	.	.	.	.	.	.	-7.302	0.56210	T	.	.	0.889	0.82028	P	.	.	4.483212	0.69966	25.5	0.99492766276178901	0.67573	0.90012	0.50864	D	AEFDBI	0.721112	0.67146	D	0.603761567431857	0.73412	5.961941	0.554669799547695	0.71721	5.698465	0.523376809360585	0.21115	0.562547	0.31514	0	0.547309	0.14657	0	0.608884	0.39905	0	0.613276	0.41899	0	.	.	4.44	4.44	0.53164	5.394000	0.66031	7.254000	0.57939	0.539000	0.25131	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	14.004	0.63967	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1903.98	35	chr11	70798550	.	C	T	1903.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.720e-01;DP=826;ExcessHet=0.0000;FS=1.333;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.41;ReadPosRankSum=-1.356e+00;SOR=0.828	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1216	20	0	1	0
chr11	71435840	71435840	C	G	splicing	DHCR7	NM_001163817:exon9:c.964-1G>C;NM_001360:exon9:c.964-1G>C	.	.	Smith-Lemli-Opitz syndrome, Autosomal recessive	YES	0	1519	3	0	0	3	0.000986518	1.0000	0.936	99628	Smith-Lemli-Opitz_syndrome|DHCR7-related_disorder|Global_developmental_delay|not_provided|See_cases|Inborn_genetic_diseases	MONDO:MONDO:0010035,MedGen:C0175694,OMIM:270400,Orphanet:818|.|Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874|MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.04	D	.	.	.	.	.	.	1.000	D	.	.	-5.86	D	0.877	D	0.968	D	0.293	3.873	19.68	5.08	2.363	6.811	15.943	0.557	.	0.0054	0.00259585	0.0042	0.0030	0.0016	0	0.0018	0.0068	0.0015	7.154e-05	0.003758	581	154602	rs138659167	0.0078	0.0077	0.0082	0.0074	0.0094	0.0077	0.0076	0.0092	0.0091	0.0013	0.0019	0.0121	0	0.0016	0.0003	0.0094	0.0066	0.0001	0.0042	0.0042	0.0048	0.0037	0.0068	0.0040	0.0039	0.0063	0.0061	0.0017	0	0.0023	0.0127	0	0.0018	0	0.0068	0.0057	0.0002	0.001	0.78490	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-5.86	0.99406	D	0.01	0.06868	N	.	.	0.877	0.95365	D	0.968	0.98972	D	6	0.009255409	0.00209	T	.	.	.	0.557	0.81774	.	.	0.888143595402	0.88703	.	.	.	.	.	.	.	0.281177	0.65389	T	0.289476	0.82113	D	0.65	0.98035	D	0.0244085802813395	0.01197	T	0.265773	0.04346	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.43366	B	.	.	5.881037	0.93930	33	0.99432579493505502	0.64325	0.97362	0.74270	D	AEFDBCI	0.775278	0.70874	D	1.08993767821549	0.97943	17.08289	0.928480279191329	0.96698	15.02707	0.999999898606532	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.08	5.08	0.68373	6.890000	0.75451	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.0:1.0:0.0:0.0	15.943	0.79559	649	0.63102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	783.98	69	chr11	71435840	.	C	G	783.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.920e-01;DP=1668;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=0.327;SOR=0.680	GT:AD:DP:GQ:PL	0/0:87,0:87:99:0,120,1800	20	0	1	0
chr11	71819690	71819690	A	G	exonic	ZNF705E	.	nonsynonymous SNV	ZNF705E:NM_001278713:exon2:c.T94C:p.Y32H,	.	.	462	1051	9	0	0	9	0.00426338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	0.0002781	43	154602	rs200943829	0.0052	0.0051	0.0051	0.0052	0.0059	0.0051	0.0050	0.0058	0.0057	0.0009	0.0025	0.0074	0	0.0011	0.0039	0.0059	0.0047	0.0022	0.0036	0.0036	0.0041	0.0031	0.0058	0.0034	0.0033	0.0053	0.0052	0.0012	0	0.0033	0.0075	0	0.0014	0	0.0058	0.0052	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.275	0.64647	M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036628067	0.01971	T	.	.	.	.	.	.	.	.	.	0.06214427180188174	0.06154	.	.	.	.	.	0.103053	0.41134	T	.	.	.	.	.	.	.	.	.	0.813119	0.46553	T	0.057487607	0.11447	0.1876694	0.42012	0.057487607	0.11446	0.1876694	0.42011	-5.207	0.39013	T	.	.	0.585	0.68256	P	.	.	0.699060	0.10679	7.374	0.30829708431274105	0.01706	0.07211	0.13235	N	AEFI	.	.	.	.	.	.	.	.	.	1.12518209006638E-6	0.01202	0.080785	0.02172	0	0.060609	0.00678	0	0.078618	0.02440	0	0.10565	0.03146	0	0.0824272	0.18874	1.12	-0.126	0.12855	4.136000	0.57766	.	.	0.222000	0.18087	0.982000	0.35529	0.035000	0.21413	0.351000	0.25682	0.7827:0.0:0.2173:0.0	4.488	0.11213	246	0.90367	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	1492.33	35	chr11	71819690	.	A	G	1492.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=5.40;DP=742;ExcessHet=0.0000;FS=4.159;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=34.57;MQRankSum=1.03;QD=17.56;ReadPosRankSum=1.93;SOR=0.681	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1234	19	0	1	1
chr11	72016041	72016041	C	G	exonic	NUMA1	.	nonsynonymous SNV	NUMA1:NM_006185:exon15:c.G1462C:p.A488P	Leukemia, acute promyelocytic, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.664	P	0.189	B	0.120	N	1.000	N	1.59	L	2.6	T	-1.024	T	0.089	T	0.392	3.305	17.11	0.087	0.051	0.094	5.867	0.108	0.0167123708693	.	0.000199681	8.257e-06	0	0	0.0001	0	0	0	0	1.29e-05	2	154602	rs556436417	1.368e-06	1.368e-06	2.723e-06	0	4.472e-05	2.3e-07	9e-08	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	0	0	0	1.313e-05	1.312e-05	2.57e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	6.534e-05	0	0.0002	0	0	0	0	0	0.086	0.37966	T	0.163	0.31125	T	0.118	0.41009	B	0.136	0.36295	B	0.119599	0.19068	N	0.526155	1	0.81001	D	2.39	0.68882	M	2.6	0.49068	T	-1.94	0.53096	N	0.245	0.28965	-1.0245	0.22246	T	0.089	0.34160	T	10	0.08919382	0.15428	T	0.016712	0.38094	T	0.108	0.30607	0.054	0.00134	0.34936206512	0.34543	0.2939430198110377	0.29307	0.716424582878	0.61991	0.309654355049	0.11855	T	0.161761	0.57482	T	-0.216782	0.18435	T	-0.38004	0.35718	T	0.705626130104065	0.40987	D	0.881212	0.60904	D	0.27398434	0.50465	0.28336617	0.54330	0.27398434	0.50465	0.28336617	0.54329	-10.038	0.74139	D	.	.	0.481	0.64803	A	.;.;.;.;.;.	.;.;.;.;.;.	2.022338	0.25697	16.86	0.99509471557078399	0.68558	0.83935	0.43025	D	AEFGBHCI	0.399580	0.47481	N	-0.199100401297024	0.33173	1.878978	-0.166865635178497	0.32765	1.867305	0.987861424001036	0.31359	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.37	0.087	0.13761	0.150000	0.16082	.	.	0.599000	0.40250	0.984000	0.35821	0.907000	0.28067	0.967000	0.53440	0.2335:0.5657:0.0:0.2008	5.867	0.18028	538	0.73119	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2174.98	37	chr11	72016041	.	C	G	2174.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.203;DP=877;ExcessHet=0.0000;FS=2.039;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.40;ReadPosRankSum=1.77;SOR=0.814	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1575	20	0	1	0
chr11	72016139	72016139	C	A	exonic	NUMA1	.	nonsynonymous SNV	NUMA1:NM_006185:exon15:c.G1364T:p.G455V	Leukemia, acute promyelocytic, somatic	.	.	.	.	.	.	.	.	.	.	2351074	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.145	B	0.068	B	0.071	N	1.000	N	0.345	N	2.75	T	-1.019	T	0.070	T	0.417	-0.422	2.031	-1.05	-0.451	0.007	7.816	0.125	0.0175871505085	7.7e-05	.	3.307e-05	0.0002	0	0	0	3.014e-05	0	0	2.59e-05	4	154602	rs34441100	3.147e-05	3.147e-05	2.859e-05	3.438e-05	0.0005	2.412e-05	2.158e-05	0.0003	0.0002	0.0005	2.236e-05	0	0	0	0	2.248e-05	4.968e-05	1.159e-05	5.256e-05	5.253e-05	2.569e-05	8.068e-05	7.237e-05	2.557e-05	1.83e-05	1.972e-05	1.124e-05	7.237e-05	0	0	0	0	0	0	5.879e-05	0.0005	0	0.054	0.46129	T	0.239	0.50514	T	0.078	0.24389	B	0.036	0.27651	B	0.071240	0.02253	N	1.693710	1	0.08975	N	2.015	0.55033	M	2.75	0.43279	T	-1.38	0.44657	N	0.172	0.19190	-1.0187	0.24139	T	0.070	0.28478	T	10	0.038833976	0.02329	T	0.017587	0.39349	T	0.125	0.34456	.	.	0.502485423634	0.49885	0.13335332703923614	0.13259	0.365883644729	0.38178	0.261992663145	0.05130	T	0.102496	0.41028	T	-0.350278	0.04709	T	-0.461491	0.26436	T	0.0270527641104266	0.01552	T	0.215178	0.02674	T	0.05131212	0.09403	0.06983555	0.14764	0.05131212	0.09403	0.06983555	0.14764	-4.955	0.36347	T	.	.	0.095	0.16582	B	.;.;.;.;.;.	.;.;.;.;.;.	1.339415	0.17456	13.17	0.6365066092727214	0.07280	0.30542	0.24109	N	AEFGBCI	0.166360	0.29294	N	-1.55013469441909	0.01534	0.06698575	-1.54753087907012	0.01993	0.09104858	0.989127870016365	0.31730	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.6	-1.05	0.09523	0.230000	0.17632	.	.	-0.681000	0.04224	0.000000	0.06391	0.001000	0.17328	0.291000	0.24285	0.0:0.4442:0.2705:0.2853	7.816	0.28425	538	0.73119	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1166.98	37	chr11	72016139	.	C	A	1166.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.694;DP=843;ExcessHet=0.0000;FS=1.636;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.91;ReadPosRankSum=1.81;SOR=0.899	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1575	20	0	1	0
chr11	72018230	72018230	G	A	exonic	NUMA1	.	nonsynonymous SNV	NUMA1:NM_006185:exon12:c.C931T:p.R311C	Leukemia, acute promyelocytic, somatic	.	422	1092	8	0	0	8	0.00364964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	0.999	D	1.975	M	1.93	T	-0.267	T	0.361	T	0.763	3.586	18.27	4.56	1.288	3.667	15.935	0.259	0.105483975382	0.0003	0.000199681	0.0005	9.61e-05	8.637e-05	0	0	0.0005	0	0.0016	0.0004075	63	154602	rs139359161	0.0003	0.0003	0.0003	0.0004	0.0023	0.0003	0.0003	0.0013	0.0011	0.0002	0.0002	0	0	3.744e-05	0.0023	0.0003	0.0006	0.0010	0.0003	0.0003	0.0002	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0001	0	0	0	0	0.0004	0.0024	0.0002	0.001	0.91255	D	0.007	0.83351	D	1.0	0.90584	D	0.998	0.92359	D	0.000001	0.84330	D	0.000000	0.999369	0.46798	D	2.67	0.78151	M	1.93	0.60973	T	-3.68	0.82341	D	0.557	0.58713	-0.2672	0.75888	T	0.361	0.72262	T	10	0.043380916	0.03182	T	0.105484	0.78062	D	0.259	0.57090	.	.	0.681978304311	0.67926	0.28157395928230106	0.28070	1.1501580295	0.79175	0.62627863884	0.56617	T	0.349035	0.73358	T	-0.132138	0.31151	T	0.00733731	0.70811	D	0.0744947297370672	0.09267	T	0.976702	0.92496	D	0.57479817	0.71323	0.37705445	0.62814	0.57479817	0.71324	0.37705445	0.62814	-7.051	0.56302	T	.	.	0.379	0.58375	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.364748	0.89958	31	0.99891530006459128	0.96513	0.92027	0.54783	D	AEFDGBCI	0.696705	0.65495	D	0.346426547617499	0.58550	4.028038	0.290245974325366	0.54969	3.660528	0.99998566360079	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.48	4.56	0.55644	3.775000	0.55055	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.0:0.1357:0.8643:0.0	15.935	0.79482	533	0.73433	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1093.98	104	chr11	72018230	.	G	A	1093.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=804;ExcessHet=0.0000;FS=6.500;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.52;ReadPosRankSum=0.553;SOR=1.360	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1282	20	0	1	0
chr11	72195749	72195749	T	C	splicing	FOLR1	NM_016725:exon4:c.493+2T>C;NM_016724:exon5:c.493+2T>C;NM_000802:exon4:c.493+2T>C;NM_016729:exon3:c.493+2T>C	.	.	Neurodegeneration due to cerebral folate transport deficiency, Autosomal recessive	.	0	1478	43	1	0	45	0.014995	0.9990	0.734	101647	Cerebral_folate_transport_deficiency|not_provided|FOLR1-related_disorder|Inborn_genetic_diseases|Seizure	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068,Orphanet:217382|MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.275	10.16	5.08	2.018	7.199	13.986	.	.	0.0021	0.00339457	0.0034	0.0005	0.0028	0.0001	0.0006	0.0021	0.0066	0.0137	0.0032018	495	154602	rs144637717	0.0028	0.0028	0.0024	0.0032	0.0130	0.0027	0.0027	0.0123	0.0121	0.0002	0.0015	0.0068	2.519e-05	0.0004	0.0085	0.0022	0.0035	0.0130	0.0018	0.0018	0.0014	0.0022	0.0137	0.0016	0.0015	0.0111	0.0101	0.0004	0	0.0009	0.0052	0	0.0007	0	0.0020	0.0033	0.0137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.242793	0.14994	T	-0.109855	0.62623	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.260422	0.64748	24.7	0.97734597925983624	0.35640	0.98800	0.87016	D	AEFDGBI	.	.	.	0.941507637658203	0.93639	12.17477	0.736215265635132	0.85123	8.487886	0.999912376900708	0.45857	0.06567	0.01388	0	0.063388	0.01293	0	0.060301	0.00762	0	0.075334	0.01956	0	0.924668	0.58650	5.08	5.08	0.68373	4.313000	0.58952	4.786000	0.44868	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.181000	0.21328	0.0:0.0:0.0:1.0	13.986	0.63851	804	0.43891	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1659.98	137	chr11	72195749	.	T	C	1659.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.052e+00;DP=834;ExcessHet=0.0000;FS=2.193;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.12;ReadPosRankSum=1.61;SOR=0.498	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1268	20	0	1	0
chr11	72239763	72239763	T	C	exonic	PHOX2A	.	nonsynonymous SNV	PHOX2A:NM_005169:exon3:c.A841G:p.T281A,	Fibrosis of extraocular muscles, congenital, 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.001	B	0.001	B	0.029	N	0.606	D	0.205	N	-2.52	D	-0.616	T	0.358	T	0.181	1.987	12.60	1.83	0.646	1.765	3.096	0.015	0.352980698448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.19157	T	0.542	0.09690	T	0.001	0.07471	B	0.001	0.04355	B	0.028739	0.25559	N	0.194461	0.606128	0.32580	D	0.145	0.08828	N	-2.52	0.89363	D	-0.43	0.14390	N	0.098	0.07949	-0.6161	0.64151	T	0.358	0.72037	T	10	0.09141296	0.16012	T	0.352981	0.92317	D	0.214	0.50650	0.106	0.01810	0.637499869557	0.63451	0.5338930359135083	0.53314	.	.	0.695767760277	0.66534	T	0.102201	0.40969	T	-0.0447488	0.45241	T	-0.302055	0.44507	T	0.178171980880213	0.19119	T	0.550545	0.18982	T	0.11713958	0.27620	0.092890225	0.21915	0.11713958	0.27619	0.092890225	0.21914	-3.347	0.14351	T	.	.	0.098	0.16187	B	.	.	2.671507	0.34828	19.73	0.91121660768150448	0.20374	0.56403	0.30108	D	ALL	0.186884	0.31419	N	-0.543029802368534	0.20702	1.09332	-0.404636280040313	0.24860	1.363781	0.999999851521402	0.74766	0.443343	0.08805	1	0.606814	0.50340	0	0.666236	0.60216	0	0.554799	0.18163	0	.	.	4.29	1.83	0.24279	1.377000	0.33923	2.584000	0.33431	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.194:0.1924:0.0:0.6136	3.096	0.05930	800	0.44535	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	589.98	34	chr11	72239763	.	T	C	589.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.119;DP=738;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=1.10;SOR=0.770	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,100,1082	20	0	1	0
chr11	72686130	72686130	C	T	exonic	ARAP1	.	nonsynonymous SNV	ARAP1:NM_001135190:exon30:c.G3296A:p.R1099Q	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.742	P	0.000	D	0.898	N	0	N	0.94	T	-1.063	T	0.080	T	0.259	5.042	29.9	4.18	2.673	3.025	7.934	0.070	0.0107401354773	.	.	8.341e-06	0	0	0	0	1.52e-05	0	0	6.5e-06	1	154602	rs756876924	6.157e-06	6.156e-06	8.168e-06	4.126e-06	0.0003	2.9e-06	2.1e-06	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	6.295e-06	0	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0001	2.18e-06	8.2e-07	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	0.017	0.51248	D	0.003	0.76473	D	0.999	0.77913	D	0.742	0.55764	P	0.000094	0.51296	D	0.074742	0.978537	0.27759	N	0.805	0.20218	L	0.94	0.43672	T	-1.74	0.48354	N	0.506	0.53796	-1.0635	0.10902	T	0.080	0.31824	T	10	0.25214088	0.42563	T	0.01074	0.27620	T	0.070	0.20419	0.401	0.43081	0.665552289088	0.66274	0.6547691998034708	0.65412	0.562294697324	0.52714	0.483384788036	0.36523	T	0.034304	0.47142	T	-0.144245	0.29216	T	-0.444975	0.28253	T	0.677717208862305	0.39685	D	0.943806	0.78763	D	0.15392233	0.34866	0.07926195	0.17828	0.15392233	0.34865	0.07926195	0.17827	-3.787	0.20685	T	.	.	0.114	0.34272	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.623185	0.73436	26.0	0.99937005142603275	0.99661	0.70787	0.34736	D	AEFDBCI	0.249583	0.36978	N	0.262029979953315	0.54236	3.589747	0.356584210818957	0.58905	4.064169	0.999988789230706	0.51787	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.31	4.18	0.48473	4.211000	0.58304	3.307000	0.37431	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.0:0.7902:0.0:0.2098	7.934	0.29080	441	0.80015	.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1502.98	36	chr11	72686130	.	C	T	1502.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.93;DP=885;ExcessHet=0.0000;FS=0.709;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.54;ReadPosRankSum=-4.720e-01;SOR=0.586	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr11	72697184	72697184	C	T	exonic	ARAP1	.	nonsynonymous SNV	ARAP1:NM_001135190:exon19:c.G2047A:p.E683K	.	.	405	1111	6	0	0	6	0.002693	.	.	2386266	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.28	T	1.0	D	0.965	D	0.000	D	1.000	D	1.88	L	1.49	T	-0.648	T	0.292	T	0.917	4.690	25.9	5.2	2.424	7.421	17.316	0.343	0.0352227462812	0.0002	.	0.0002	0	0	0	0	0.0002	0.0012	0.0003	0.0001552	24	154602	rs367648910	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0001	0.0012	0.0009	0.0001	4.483e-05	0.0005	2.53e-05	0	0.0021	0.0002	0.0004	0.0003	9.281e-05	9.232e-05	7.782e-05	0.0001	0.0002	5.575e-05	4.402e-05	5.33e-05	2.847e-05	2.436e-05	0	0.0002	0	0	0	0.0035	8.851e-05	0.0009	0.0002	0.259	0.17014	T	0.002	0.92824	D	1.0	0.90584	D	0.959	0.70163	D	0.000017	0.62929	D	0.113575	0.999997	0.58761	D	2.445	0.70938	M	1.49	0.55608	T	-1.87	0.43717	N	0.887	0.88577	-0.6480	0.62801	T	0.292	0.66384	T	10	0.5443243	0.63897	D	0.035223	0.56205	D	0.343	0.66488	.	.	0.564616066205	0.56124	0.8763382312587995	0.87600	1.00374466657	0.74509	0.871534943581	0.92787	D	0.041857	0.45569	T	0.0526726	0.58687	T	0.138208	0.79429	D	0.783013343811035	0.45240	D	0.987301	0.96783	D	0.4064121	0.61174	0.23676905	0.48957	0.4064121	0.61175	0.23676905	0.48956	-12.277	0.88363	D	.	.	0.716	0.73625	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.243601	0.88032	29.4	0.99882210899235024	0.95813	0.98736	0.86194	D	ALL	0.940757	0.94315	D	0.61300853795972	0.73997	6.058283	0.61443644004411	0.75988	6.40885	0.999999999999958	0.74766	0.839682	0.99964	0	0.702456	0.74545	0	0.736553	0.94036	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	5.736000	0.68239	7.600000	0.61533	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.439000	0.27649	0.0:1.0:0.0:0.0	17.316	0.87111	439	0.80177	.;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|ARAP, RhoGAP domain;.;.;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|ARAP, RhoGAP domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|ARAP, RhoGAP domain;.;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1517.98	38	chr11	72697184	.	C	T	1517.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=900;ExcessHet=0.0000;FS=4.627;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=-1.920e-01;SOR=0.714	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	20	0	1	0
chr11	72710473	72710473	C	T	exonic	ARAP1	.	nonsynonymous SNV	ARAP1:NM_001135190:exon8:c.G593A:p.R198H	.	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.011	B	0.008	B	0.369	N	1.000	N	1.355	L	-0.05	T	-0.928	T	0.161	T	0.144	2.234	13.43	-3.95	-0.546	-1.821	13.678	0.084	0.0306769736226	.	.	3.305e-05	0	0.0002	0	0	0	0.0011	6.057e-05	2.59e-05	4	154602	rs750813767	3.078e-05	3.078e-05	2.45e-05	3.713e-05	0.0007	2.347e-05	2.095e-05	0.0002	0.0001	8.961e-05	8.945e-05	0	0	0	0.0007	2.248e-05	1.656e-05	9.275e-05	5.259e-05	5.253e-05	5.139e-05	5.384e-05	0.0001	2.558e-05	1.831e-05	2.847e-05	1.858e-05	2.414e-05	0	0.0001	0	0	0	0	7.351e-05	0	0	0.097	0.33923	T	0.133	0.34359	T	0.002	0.15914	B	0.002	0.13708	B	0.368513	0.13563	N	0.723627	0.999997	0.08975	N	0.625	0.15840	N	-0.05	0.63403	T	-2.41	0.54702	N	0.158	0.24883	-0.9279	0.44444	T	0.161	0.49615	T	10	0.06933373	0.09933	T	0.030677	0.52936	D	0.084	0.24469	0.49	0.57573	0.139678290688	0.13603	0.32059180304512275	0.31972	0.393755123033	0.40548	0.272009730339	0.06404	T	0.337501	0.70688	T	-0.35679	0.04315	T	-0.524579	0.19831	T	0.0576463270975936	0.06792	T	0.785621	0.42343	T	0.042336345	0.06401	0.06178913	0.11986	0.042336345	0.06400	0.06178913	0.11985	-10.532	0.77060	D	.	.	0.061	0.17232	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.577418	0.01634	0.113	0.99175941338875895	0.54527	0.05117	0.10921	N	AEFBCI	0.056065	0.10334	N	-0.988214362440379	0.08854	0.4167916	-1.05064882878232	0.08694	0.4287125	0.942981737392071	0.27547	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.42	-3.95	0.03844	-1.875000	0.01726	-8.430000	0.00971	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.644000	0.32530	0.0:0.2553:0.0:0.7447	13.678	0.61945	452	0.79239	.;.;.;Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1243.98	40	chr11	72710473	.	C	T	1243.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.26;DP=829;ExcessHet=0.0000;FS=2.255;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.87;ReadPosRankSum=-6.800e-01;SOR=0.915	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1192	20	0	1	0
chr11	72712307	72712307	G	A	exonic	ARAP1	.	nonsynonymous SNV	ARAP1:NM_001135190:exon5:c.C176T:p.S59F	.	.	416	1091	14	1	0	16	0.00727934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.32	B	0.128	B	0.114	N	1.000	N	0.345	N	2.66	T	-1.014	T	0.025	T	0.101	0.772	8.079	4.44	2.313	0.763	15.803	0.060	0.0104790606863	.	0.00119808	0.0006	0	0.0002	0	0	3.191e-05	0.0013	0.0059	0.0006145	95	154602	rs564508135	0.0003	0.0003	0.0002	0.0005	0.0048	0.0003	0.0003	0.0044	0.0042	3.068e-05	9.708e-05	0	0	0	0.0020	2.299e-05	0.0004	0.0048	0.0002	0.0002	0.0001	0.0003	0.0056	0.0002	0.0001	0.0040	0.0034	0	0	0.0001	0	0	0	0	2.941e-05	0.0009	0.0056	0.097	0.59928	T	0.006	0.70582	D	0.32	0.32998	B	0.128	0.32786	B	0.113848	0.19298	N	0.458052	1	0.08975	N	0.695	0.17993	N	2.66	0.12575	T	-2.5	0.54382	D	0.275	0.31140	-1.0144	0.25529	T	0.025	0.10509	T	10	0.00421831	0.00084	T	0.010479	0.27066	T	0.060	0.17295	0.297	0.26202	0.178374595973	0.17440	0.2345567832493984	0.23370	0.48673151323	0.47522	0.289835035801	0.08899	T	0.084939	0.37391	T	-0.625394	0.00102	T	-0.670708	0.07563	T	0.0461487104332047	0.04811	T	0.875412	0.58869	D	0.040933747	0.05935	0.07143938	0.15297	0.040933747	0.05935	0.07143938	0.15297	-7.08	0.58694	T	.	.	0.108	0.30130	B	.;.;.;.;.;.	.;.;.;.;.;.	2.063201	0.26232	17.05	0.98576548191267666	0.43180	0.18095	0.20117	N	AEFDGBIJ	0.082259	0.16654	N	-0.639008555564972	0.17781	0.9179098	-0.623555673903692	0.18888	1.01105	0.999999516489814	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.44	4.44	0.53164	0.549000	0.23037	5.439000	0.48614	0.662000	0.56354	0.046000	0.21249	0.999000	0.35428	0.011000	0.09372	0.0:0.0:1.0:0.0	15.803	0.78247	452	0.79239	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	707.98	34	chr11	72712307	.	G	A	707.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.630;DP=816;ExcessHet=0.0000;FS=4.209;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.87;ReadPosRankSum=0.527;SOR=0.821	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1233	20	0	1	0
chr11	72822216	72822216	C	T	exonic	ATG16L2	.	nonsynonymous SNV	ATG16L2:NM_001318766:exon5:c.C247T:p.R83C	.	.	403	1116	3	0	0	3	0.00134228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.901	P	0.000	N	0.982	D	0.805	L	-1.68	D	-0.410	T	0.584	D	0.459	4.541	24.5	3.53	1.051	0.606	10.102	0.470	0.928005812784	.	.	0.0003	0	0	0	0	0.0006	0	0.0002	3.23e-05	5	154602	rs767460946	8.056e-05	8.003e-05	6.857e-05	9.288e-05	0.0012	6.823e-05	6.345e-05	0.0005	0.0003	0	0.0001	0.0006	0	0	0.0012	6.27e-05	7.101e-05	0.0002	7.89e-05	7.881e-05	0.0001	1.346e-05	0.0001	4.5e-05	3.514e-05	4.769e-05	3.341e-05	0	0	6.546e-05	0.0012	0	0	0	0.0001	0	0	0.002	0.72154	D	0.015	0.61642	D	0.999	0.77913	D	0.901	0.63994	P	0.000000	0.00162	N	24.023400	0.981897	0.39828	D	2.3	0.65703	M	-1.68	0.82897	D	-4.03	0.74348	D	0.203	0.22486	-0.4096	0.71723	T	0.584	0.85043	D	10	0.31100553	0.48573	T	0.928006	0.99476	D	0.470	0.76421	0.56	0.67958	0.742893336538	0.74058	0.14388019497471266	0.14311	3.17835944952	0.99455	0.790921211243	0.80584	T	0.238149	0.60599	T	-0.115788	0.33813	T	-0.13967	0.60146	T	0.176438979078216	0.19008	T	0.864413	0.56163	D	0.46247044	0.64824	0.33459193	0.59283	0.46247044	0.64825	0.33459193	0.59282	-6.824	0.52737	T	.	.	0.159	0.35140	B	.	.	4.189352	0.63134	24.5	0.99857176261049185	0.93548	0.64696	0.32491	D	ALL	0.136546	0.25725	N	0.0472694141176337	0.44017	2.683515	-0.0279770696805741	0.38458	2.265967	0.999999999999996	0.74766	0.685219	0.55550	0	0.504199	0.08210	0	0.674405	0.61402	0	0.003489	0.00041	3	.	.	4.46	3.53	0.39533	0.588000	0.23626	2.290000	0.31953	0.593000	0.32247	0.001000	0.13787	0.462000	0.25007	0.848000	0.40082	0.0:0.7962:0.2038:0.0	10.102	0.41687	508	0.75398	Autophagy-related protein 16	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	904.98	33	chr11	72822216	.	C	T	904.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.240e-01;DP=731;ExcessHet=0.0000;FS=4.670;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.25;ReadPosRankSum=0.321;SOR=0.697	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1023	20	0	1	0
chr11	72828397	72828397	G	A	exonic	ATG16L2	.	nonsynonymous SNV	ATG16L2:NM_001318766:exon15:c.G1193A:p.R398Q	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.997	D	0.961	D	0.015	N	1.000	D	2.19	M	0.22	T	-0.669	T	0.290	T	0.358	3.916	19.92	4.13	2.505	1.075	8.286	0.115	0.038819636988	.	.	8.243e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs761722652	1.505e-05	1.505e-05	1.089e-05	1.925e-05	0.0009	9.85e-06	8.41e-06	0.0003	0.0002	5.974e-05	0	0	0	0	0.0009	8.993e-06	8.279e-05	0	1.972e-05	2.627e-05	2.569e-05	1.346e-05	6.545e-05	5.24e-06	2.45e-06	8e-06	2.99e-06	4.827e-05	0	6.545e-05	0	0	0	0	0	0	0	0.007	0.59928	D	0.013	0.63109	D	0.997	0.70673	D	0.961	0.70482	D	0.014808	0.28424	N	0.294731	0.997904	0.81001	D	2.395	0.69210	M	0.22	0.59851	T	-2.17	0.50012	N	0.496	0.52918	-0.6687	0.61888	T	0.290	0.66162	T	10	0.29033917	0.46614	T	0.03882	0.58447	D	0.171	0.43483	0.287	0.24601	0.798034202707	0.79615	0.319072417270717	0.31820	0.70483266819	0.61353	0.419741213322	0.27800	T	0.042935	0.26341	T	-0.0339331	0.46842	T	-0.286519	0.46134	T	0.849949479103088	0.50161	D	0.888611	0.70849	D	0.1541438	0.34904	0.12978597	0.31199	0.1541438	0.34904	0.12978597	0.31198	-12.196	0.85792	D	.	.	0.108	0.20625	B	.;.;.	.;.;.	5.291931	0.88853	29.8	0.99939996278657761	0.99767	0.79023	0.39082	D	AEFDGBHCI	0.049344	0.08514	N	0.403308693542803	0.61605	4.363776	0.385902563530381	0.60694	4.259991	0.999999999686016	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.80507	0.99327	0	0.592323	0.36904	0	.	.	5.06	4.13	0.47661	1.006000	0.29449	6.567000	0.55956	0.676000	0.76740	0.975000	0.34726	1.000000	0.68203	0.978000	0.57271	0.1809:0.0:0.8191:0.0	8.286	0.31088	509	0.75304	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1567.98	34	chr11	72828397	.	G	A	1567.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.890e-01;DP=824;ExcessHet=0.0000;FS=5.351;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=1.25;SOR=0.772	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1224	20	0	1	0
chr11	72841497	72841497	A	C	exonic	FCHSD2	.	nonsynonymous SNV	FCHSD2:NM_014824:exon18:c.T2013G:p.D671E,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.0	B	0.001	B	0.000	D	1.000	D	0.145	N	2.71	T	-0.968	T	0.016	T	0.11	3.837	19.49	-2.54	-0.378	-0.439	13.604	0.163	0.00500572253991	.	.	.	.	.	.	.	.	.	.	.	.	.	rs369315223	2.056e-06	2.052e-06	2.726e-06	1.378e-06	0.0003	5.5e-07	1.5e-07	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	9.002e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	0.26192	T	0.709	0.12142	T	0.0	0.02946	B	0.001	0.04355	B	0.000336	0.45700	D	0.181304	1	0.81001	D	0.955	0.23872	L	2.59	0.13317	T	-0.28	0.37375	N	0.162	0.21969	-0.9683	0.37551	T	0.016	0.06425	T	10	0.07242155	0.10809	T	0.005006	0.12629	T	0.163	0.42028	0.129	0.03412	0.318133320967	0.31420	0.3423490459826684	0.34147	0.225144669381	0.25054	0.545464932919	0.45217	T	0.021289	0.16605	T	-0.331049	0.06033	T	-0.713305	0.05126	T	0.0833168886923528	0.10405	T	0.730727	0.36163	T	0.054303944	0.10398	0.057469513	0.10451	0.054303944	0.10398	0.057469513	0.10451	-2.442	0.05397	T	.	.	0.075	0.36495	B	.;.;.;.;.	.;.;.;.;.	0.747037	0.11166	7.805	0.99640533234230255	0.76633	0.30917	0.24205	N	AEFBI	0.104542	0.20914	N	-0.866139380447929	0.11655	0.5636381	-0.757606359198587	0.15535	0.817522	0.99089765402579	0.32304	0.706548	0.73137	0	0.702456	0.74545	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	5.66	-2.54	0.05941	-0.431000	0.07034	-1.045000	0.06502	0.756000	0.94297	0.278000	0.25122	0.000000	0.08366	1.000000	0.97212	0.3744:0.0:0.6256:0.0	13.604	0.61505	521	0.74284	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1854.98	38	chr11	72841497	.	A	C	1854.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.06;DP=1002;ExcessHet=0.0000;FS=0.585;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=-8.440e-01;SOR=0.617	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr11	73296931	73296931	G	A	exonic	P2RY6	.	nonsynonymous SNV	P2RY6:NM_001277208:exon2:c.G716A:p.R239H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.019	B	0.008	B	0.007	N	1.000	N	0.825	L	-0.83	T	-0.950	T	0.196	T	0.276	0.722	7.840	1.35	0.162	3.342	6.985	0.106	0.0205262604868	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs779908841	1.168e-05	1.231e-05	1.231e-05	1.105e-05	0.0001	7.12e-06	5.82e-06	4.359e-05	2.767e-05	0	0.0001	0	0	0	0	8.094e-06	1.657e-05	2.319e-05	3.284e-05	3.283e-05	2.569e-05	4.033e-05	0.0002	1.26e-05	7.98e-06	2.26e-05	9.07e-06	2.411e-05	0	0.0001	0	0.0002	0	0	1.47e-05	0	0	0.309	0.23997	T	0.041	0.57104	D	0.019	0.17989	B	0.008	0.13708	B	0.006711	0.31850	N	0.298586	0.999692	0.20667	N	1.445	0.36358	L	-0.83	0.74159	T	-1.3	0.33197	N	0.128	0.12484	-0.9504	0.40903	T	0.196	0.55071	T	10	0.16716644	0.31196	T	0.020526	0.43144	T	0.106	0.30130	0.644	0.78117	0.66287732929	0.66004	0.23758004861340418	0.23672	0.449666334578	0.44752	0.427241355181	0.28831	T	0.141508	0.47661	T	-0.229031	0.16777	T	-0.341062	0.40225	T	0.073809988796711	0.09176	T	0.80292	0.45144	T	0.060319994	0.12363	0.044584583	0.05809	0.060319994	0.12362	0.044584583	0.05809	-5.091	0.37812	T	.	.	0.086	0.12418	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.990106	0.25286	16.71	0.86912079412006293	0.16858	0.52851	0.29230	D	AEFGBI	0.174518	0.30166	N	-0.422618229658856	0.24678	1.334225	-0.307950203194096	0.27841	1.547786	0.997884612550419	0.36150	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.42	1.35	0.21078	2.265000	0.42968	1.396000	0.26156	0.618000	0.50648	0.943000	0.32764	0.842000	0.27309	0.976000	0.56436	0.5838:0.0:0.4162:0.0	6.985	0.23905	558	0.71484	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2621.98	36	chr11	73296931	.	G	A	2621.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.590e-01;DP=929;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.04;ReadPosRankSum=-1.253e+00;SOR=0.707	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1237	20	0	1	0
chr11	73308982	73308982	C	T	exonic	ARHGEF17	.	nonsynonymous SNV	ARHGEF17:NM_014786:exon1:c.C344T:p.A115V,	.	.	429	1017	70	6	0	82	0.0387524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.83	T	0.0	B	0.001	B	.	.	0.958	N	0.695	N	0.4	T	-1.028	T	0.060	T	0.086	3.839	19.50	2.84	0.563	2.147	8.444	0.037	.	.	0.0103834	0.0702	0	0	0	.	0.0718	0	0.0779	0.0042173	652	154602	rs138821110	0.0071	0.0070	0.0064	0.0079	0.0391	0.0070	0.0070	0.0345	0.0327	0.0020	0.0062	0.0385	0	0.0025	0.0391	0.0054	0.0103	0.0303	0.0061	0.0061	0.0058	0.0063	0.0203	0.0057	0.0056	0.0171	0.0158	0.0017	0	0.0085	0.0343	0.0002	0.0012	0.0274	0.0067	0.0147	0.0203	0.133	0.26409	T	0.161	0.31326	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.958337	0.26228	N	0.805	0.20218	L	0.4	0.57261	T	-0.48	0.15379	N	0.086	0.06322	-1.0278	0.21168	T	0.060	0.25127	T	9	0.0018773079	0.00025	T	.	.	.	0.037	0.09474	.	.	.	.	0.2112261720823509	0.21038	0.420411585227	0.42572	0.87365937233	0.93088	D	0.012857	0.11224	T	-0.502128	0.00556	T	-0.469674	0.25551	T	0.0463361906583269	0.04844	T	0.437256	0.12012	T	0.031170215	0.02909	0.12089603	0.29172	0.031170215	0.02908	0.12089603	0.29171	-5.419	0.41102	T	.	.	0.104	0.18746	B	.	.	2.367257	0.30367	18.42	0.99659934032971631	0.77883	0.16498	0.19417	N	ALL	0.072673	0.14512	N	-0.928686673885686	0.10175	0.4849995	-0.822539757875643	0.13949	0.7263908	0.999999999997495	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.239995	0.05000	1	0.372554	0.06265	0	.	.	3.76	2.84	0.32241	0.288000	0.18695	1.582000	0.27480	-1.078000	0.01575	0.570000	0.27505	0.002000	0.18203	0.743000	0.35541	0.0:0.8855:0.0:0.1145	8.444	0.31992	618	0.66225	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.04762	868.11	42	chr11	73308982	.	C	T	868.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.167;DP=777;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=0.846;SOR=0.817	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1004	19	0	2	0
chr11	73311051	73311051	C	G	exonic	ARHGEF17	.	nonsynonymous SNV	ARHGEF17:NM_014786:exon1:c.C2413G:p.Q805E,	.	.	417	1084	20	1	0	22	0.0100457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.081	B	0.007	B	0.054	N	0.998	N	0.695	N	0.49	T	-0.993	T	0.098	T	0.197	0.652	7.496	4.41	2.280	2.780	9.807	0.060	.	0.0002	0.00319489	0.0019	0	0.0002	0	0	0.0001	0.0022	0.0133	0.0016753	259	154602	rs146497753	0.0009	0.0009	0.0005	0.0013	0.0137	0.0009	0.0008	0.0131	0.0128	2.987e-05	0.0001	0	0	0	0.0031	5.576e-05	0.0008	0.0137	0.0004	0.0004	0.0002	0.0006	0.0106	0.0003	0.0003	0.0083	0.0074	2.406e-05	0	0	0	0	0	0	2.941e-05	0.0005	0.0106	0.007	0.59928	D	0.036	0.52060	D	0.081	0.24602	B	0.007	0.12992	B	0.053518	0.22802	N	0.370462	0.998278	0.22253	N	1.61	0.41143	L	0.49	0.55775	T	-0.38	0.13418	N	0.274	0.31027	-0.9934	0.31722	T	0.098	0.36600	T	10	0.0047130883	0.00099	T	.	.	.	0.060	0.17295	.	.	0.450326921165	0.44653	0.180490145819556	0.17968	0.448488106829	0.44675	0.330097079277	0.14949	T	0.010495	0.09475	T	-0.458662	0.01002	T	-0.419288	0.31157	T	0.0291780304111627	0.01865	T	0.772323	0.40326	T	0.18583928	0.39965	0.15137646	0.35662	0.18583928	0.39965	0.15137646	0.35661	-3.249	0.13088	T	.	.	0.070	0.03407	B	.	.	3.313446	0.45536	22.1	0.97018756912290371	0.32018	0.79887	0.39677	D	AEFDGBI	.	.	.	-0.192599689152137	0.33441	1.897307	-0.047469029488281	0.37599	2.203716	0.999998881283067	0.74766	0.722319	0.85440	0	0.586065	0.33999	0	0.673471	0.61138	0	0.735409	0.98432	0	.	.	4.41	4.41	0.52588	2.804000	0.47628	5.983000	0.52202	0.597000	0.34315	0.997000	0.40164	1.000000	0.68203	0.984000	0.60418	0.3162:0.6838:0.0:0.0	9.807	0.39967	631	0.64944	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	963.98	44	chr11	73311051	.	C	G	963.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.998e+00;DP=918;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.36;ReadPosRankSum=0.689;SOR=0.641	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1192	20	0	1	0
chr11	73311687	73311687	G	A	exonic	ARHGEF17	.	nonsynonymous SNV	ARHGEF17:NM_014786:exon1:c.G3049A:p.G1017S,	.	.	.	.	.	.	.	.	.	.	.	2425432	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.26	T	0.004	B	0.003	B	0.256	N	1.000	N	0.205	N	0.51	T	-1.036	T	0.078	T	0.072	1.098	9.479	1.66	0.643	1.039	9.341	0.036	0.0130843412648	7.7e-05	.	5.001e-05	0	0	0	0	6.091e-05	0	0.0001	5.17e-05	8	154602	rs377437143	3.627e-05	3.694e-05	3.269e-05	3.99e-05	4.496e-05	2.829e-05	2.566e-05	3.459e-05	3.121e-05	0	0	0	0	0	0	4.496e-05	1.656e-05	2.319e-05	5.913e-05	5.91e-05	7.707e-05	4.034e-05	0.0002	3.077e-05	2.21e-05	5.841e-05	4.239e-05	0	0	0	0	0	0	0	0.0001	0	0.0002	0.449	0.09022	T	0.677	0.06166	T	0.004	0.12183	B	0.003	0.08700	B	0.255833	0.15414	N	0.606749	1	0.08975	N	0.11	0.08516	N	0.51	0.55439	T	0.29	0.04161	N	0.082	0.05799	-1.0365	0.18388	T	0.078	0.31133	T	10	0.04190576	0.02889	T	0.013084	0.32199	T	0.036	0.09122	.	.	0.359705090764	0.35578	0.22936051750225495	0.22851	0.381911273025	0.39535	0.310047626495	0.11914	T	0.007962	0.07329	T	-0.376578	0.03273	T	-0.597177	0.13048	T	0.0449091900364645	0.04586	T	0.675032	0.28342	T	0.035405096	0.04159	0.033773147	0.02329	0.035405096	0.04159	0.033773147	0.02329	-3.149	0.11867	T	.	.	0.072	0.04396	B	.	.	1.340480	0.17468	13.18	0.97495966938565359	0.34267	0.55449	0.29867	D	AEFDGBHI	0.219047	0.34398	N	-0.784073452564689	0.13725	0.6782061	-0.72573207465776	0.16321	0.8628338	0.999990074916056	0.74766	0.740716	0.97744	0	0.586065	0.33999	0	0.0	0.00061	3	0.638787	0.57140	0	.	.	5.29	1.66	0.23081	1.071000	0.30278	2.050000	0.30341	0.676000	0.76740	0.672000	0.28366	0.974000	0.29927	0.041000	0.14368	0.3209:0.0:0.6791:0.0	9.341	0.37238	632	0.64850	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1176.98	44	chr11	73311687	.	G	A	1176.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=888;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.90;ReadPosRankSum=-1.048e+00;SOR=0.629	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1192	20	0	1	0
chr11	73311742	73311742	C	T	exonic	ARHGEF17	.	nonsynonymous SNV	ARHGEF17:NM_014786:exon1:c.C3104T:p.P1035L,	.	.	420	1101	1	0	0	1	0.000453926	.	.	2697877	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.19	T	0.087	B	0.011	B	0.069	N	0.576	D	0.345	N	0.23	T	-0.961	T	0.088	T	0.174	0.898	8.648	2.64	0.115	1.616	12.775	0.036	0.0244447108017	7.7e-05	.	0.0001	0	8.711e-05	0	0	1.547e-05	0	0.0008	9.7e-05	15	154602	rs145994191	3.423e-05	3.42e-05	1.09e-05	5.779e-05	0.0005	2.633e-05	2.376e-05	0.0004	0.0003	0	2.236e-05	0	0	0	0.0002	4.496e-06	1.656e-05	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.29288	T	0.323	0.18959	T	0.087	0.24971	B	0.011	0.15521	B	0.069155	0.21624	N	0.390390	0.576217	0.32336	D	0.975	0.24501	L	0.23	0.59717	T	-1.42	0.34992	N	0.128	0.12198	-0.9614	0.38916	T	0.088	0.34105	T	10	0.03945282	0.02436	T	0.024445	0.47438	T	0.036	0.09122	.	.	0.282416095408	0.27849	0.2592124984366433	0.25835	0.429185509534	0.43212	0.423824369907	0.28363	T	0.017534	0.14289	T	-0.401577	0.02261	T	-0.45713	0.26912	T	0.0572123047920712	0.06723	T	0.608739	0.23025	T	0.047697574	0.08195	0.03729556	0.03352	0.047697574	0.08194	0.03729556	0.03352	-4.243	0.27370	T	.	.	0.071	0.03811	B	.	.	1.290276	0.16911	12.84	0.78332987171703727	0.12255	0.55602	0.29905	D	AEFDGBHI	0.185150	0.31248	N	-0.775730935369394	0.13944	0.6907341	-0.805730421761771	0.14356	0.7497261	0.999998480690561	0.74766	0.740716	0.97744	0	0.586065	0.33999	0	0.0	0.00061	3	0.638787	0.57140	0	.	.	5.53	2.64	0.30504	1.658000	0.36992	0.424000	0.18252	-0.172000	0.11096	0.298000	0.25306	0.007000	0.19602	0.698000	0.34080	0.0:0.7947:0.0:0.2053	12.775	0.56820	633	0.64743	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1455.98	111	chr11	73311742	.	C	T	1455.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.44;DP=883;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=1.08;SOR=0.739	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1192	20	0	1	0
chr11	73363827	73363827	G	A	exonic	ARHGEF17	.	nonsynonymous SNV	ARHGEF17:NM_014786:exon16:c.G5327A:p.C1776Y,	.	.	403	1118	1	0	0	1	0.000447027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.994	D	0.87	P	0.000	D	1.000	D	2.455	M	1.17	T	-0.670	T	0.209	T	0.87	3.631	18.47	4.65	2.813	7.745	16.284	0.438	0.0214256219007	0.0002	.	0.0003	0	8.67e-05	0.0007	0	0.0005	0	0	0.0002652	41	154602	rs151153426	0.0002	0.0002	0.0002	0.0002	0.0008	0.0002	0.0002	0.0006	0.0005	2.987e-05	0.0001	0.0054	0.0008	5.648e-05	0.0003	6.745e-05	0.0005	5.797e-05	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0002	0.0001	4.824e-05	0	0.0004	0.0081	0.0004	0	0	8.818e-05	0.0010	0	0.001	0.78490	D	0.006	0.70582	D	0.994	0.66517	D	0.87	0.61806	P	0.000000	0.84330	D	0.092108	0.999996	0.58761	D	2.045	0.56016	M	1.17	0.37910	T	-5.6	0.86608	D	0.929	0.93370	-0.6698	0.61838	T	0.209	0.56879	T	10	0.029158562	0.01044	T	0.021426	0.44197	T	0.438	0.74235	.	.	0.735388079799	0.73302	0.8415937322844248	0.84119	0.858288732314	0.68850	0.856853783131	0.90643	D	0.346026	0.71434	T	-0.0400648	0.45938	T	0.111898	0.77699	D	0.123604137325326	0.14779	T	0.877812	0.59215	D	0.83550835	0.86289	0.83395946	0.90444	0.83550835	0.86290	0.83395946	0.90444	-11.341	0.81495	D	.	.	0.908	0.83331	P	.;.	.;.	4.984085	0.82574	27.8	0.99430959016765952	0.64276	0.98608	0.84646	D	AEFGBI	0.940844	0.94334	D	0.846348458293442	0.88898	9.755466	0.823781981202887	0.91396	10.86544	0.999999999120292	0.74766	0.736574	0.97449	0	0.708844	0.79440	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.61	4.65	0.57626	7.966000	0.87508	9.505000	0.80913	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.132:0.868:0.0	16.284	0.82537	461	0.78683	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2457.98	40	chr11	73363827	.	G	A	2457.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.860e+00;DP=941;ExcessHet=0.0000;FS=1.068;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=0.550;SOR=0.793	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1352	20	0	1	0
chr11	73392409	73392409	A	G	exonic	RELT	.	nonsynonymous SNV	RELT:NM_032871:exon6:c.A566G:p.K189R	.	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.000	D	1.000	D	1.73	L	-2.79	D	0.725	D	0.796	D	0.627	5.419	35	5.69	2.171	5.474	13.324	0.561	0.114735154619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000012	0.62929	D	0.110120	0.999888	0.50402	D	2.235	0.63160	M	-2.79	0.91019	D	-2.67	0.57110	D	0.463	0.50418	0.725	0.93480	D	0.796	0.93100	D	10	0.46824166	0.59703	T	0.114735	0.79368	D	0.561	0.82003	0.252	0.19067	0.886433381783	0.88531	0.6105623063155644	0.60988	0.484744405385	0.47379	0.71169424057	0.68838	T	0.324573	0.69537	T	0.191841	0.73133	D	0.03779	0.72783	D	0.986422061920166	0.77145	D	0.824718	0.48674	T	0.36777443	0.58420	0.31595364	0.57579	0.36777443	0.58420	0.31595364	0.57578	-7.761	0.59430	D	0.2642444947022451	0.35639	0.128	0.27222	B	.;.	.;.	4.834994	0.78885	27.0	0.99893079479549951	0.96666	0.95749	0.65991	D	AEFBCI	0.568066	0.57340	D	0.679896786591124	0.78315	6.846874	0.680285372406789	0.80883	7.399124	0.999999999999797	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.662433	0.64102	0	.	.	5.69	5.69	0.88346	5.494000	0.66624	7.901000	0.73554	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	13.324	0.59887	394	0.83065	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	841.98	33	chr11	73392409	.	A	G	841.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=793;ExcessHet=0.0000;FS=1.774;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.79;ReadPosRankSum=-1.047e+00;SOR=0.899	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr11	73394296	73394296	C	T	exonic	RELT	.	nonsynonymous SNV	RELT:NM_032871:exon8:c.C767T:p.T256M	.	.	422	1025	69	6	0	81	0.0380103	.	.	3193193	RELT-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.818	P	0.001	N	0.566	N	1.995	M	-1.08	T	0.120	D	0.432	T	0.448	4.038	20.7	4.64	1.326	2.721	13.447	0.323	.	0.0068	0.0103834	0.0106	0.0017	0.0070	0	0.0024	0.0089	0.0127	0.0317	0.0082793	1280	154602	rs141813904	0.0073	0.0074	0.0063	0.0084	0.0390	0.0072	0.0072	0.0345	0.0327	0.0017	0.0058	0.0374	0	0.0024	0.0390	0.0052	0.0101	0.0310	0.0059	0.0059	0.0057	0.0060	0.0212	0.0055	0.0054	0.0178	0.0166	0.0014	0	0.0079	0.0331	0	0.0012	0.0272	0.0066	0.0133	0.0212	0.002	0.72154	D	0.005	0.72224	D	1.0	0.90584	D	0.818	0.58969	P	0.001434	0.39044	N	0.263770	0.566451	0.31214	N	2.42	0.70002	M	-1.08	0.77078	T	-2.48	0.54059	N	0.326	0.36884	0.120	0.84534	D	0.432	0.77374	T	10	0.0034896135	0.00062	T	.	.	.	0.323	0.64522	.	.	0.721200597378	0.71874	0.31165544827705494	0.31078	0.457268634728	0.45370	0.392182976007	0.23976	T	0.060363	0.31366	T	-0.294319	0.09206	T	-0.173233	0.57146	T	0.0320297691386701	0.02311	T	0.837416	0.50983	T	0.124951266	0.29305	0.1778103	0.40407	0.1269353	0.29717	0.1778103	0.40407	-5.427	0.41178	T	0.14549929563050834	0.16709	0.096	0.15564	B	.;.	.;.	4.493811	0.70227	25.5	0.99910783101433076	0.98022	0.83453	0.42569	D	AEFDBCI	0.147449	0.27112	N	0.49840717134452	0.66996	5.023172	0.470972948474625	0.66075	4.90504	0.999999766369978	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.57	4.64	0.57399	1.518000	0.35484	5.878000	0.50610	0.599000	0.40250	0.009000	0.18154	1.000000	0.68203	0.986000	0.61781	0.0:0.8426:0.1574:0.0	13.447	0.60600	394	0.83065	.;.	.	.	.	.	rs141813904	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1750.11	33	chr11	73394296	.	C	T	1750.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.17;DP=838;ExcessHet=0.1072;FS=3.811;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=1.17;SOR=0.451	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1088	19	0	2	0
chr11	73394683	73394683	C	T	exonic	RELT	.	nonsynonymous SNV	RELT:NM_032871:exon9:c.C995T:p.A332V	.	.	412	1079	29	2	0	33	0.0150616	.	.	3185193	RELT-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.003	B	0.003	B	0.009	N	0.776	D	1.5	L	-1.02	T	-0.395	T	0.327	T	0.165	3.118	16.42	3.96	1.272	1.525	12.717	0.175	0.0399008955017	0.0019	0.00179712	0.0023	0.0006	0.0010	0	0.0005	0.0020	0.0034	0.0071	0.0020828	322	154602	rs12362779	0.0017	0.0017	0.0015	0.0020	0.0218	0.0017	0.0016	0.0187	0.0176	0.0004	0.0012	0.0027	2.519e-05	0.0003	0.0218	0.0013	0.0022	0.0070	0.0012	0.0012	0.0013	0.0011	0.0052	0.0011	0.0010	0.0036	0.0031	0.0003	0.0022	0.0007	0.0017	0.0002	0.0002	0.0034	0.0017	0.0019	0.0052	0.052	0.39097	T	0.148	0.32675	T	0.003	0.11197	B	0.003	0.08700	B	0.008621	0.30756	N	0.263815	0.775952	0.34208	D	1.655	0.42436	L	-1.02	0.76300	T	-1.48	0.36189	N	0.176	0.18920	-0.3948	0.72191	T	0.327	0.69538	T	10	0.0037205517	0.00069	T	0.039901	0.59071	D	0.175	0.44197	.	.	0.485705203746	0.48201	0.23113276701147592	0.23028	0.106959515568	0.12079	0.390446007252	0.23733	T	0.01866	0.15005	T	-0.406553	0.02096	T	-0.353036	0.38857	T	0.015432057305191	0.00346	T	0.692231	0.30167	T	0.09462336	0.22252	0.11955887	0.28857	0.11956615	0.28150	0.10118702	0.24215	-4.297	0.28135	T	0.07821221755293352	0.03736	0.075	0.05711	B	.;.	.;.	1.552360	0.19892	14.49	0.99620177263976495	0.75353	0.42689	0.26933	N	AEFDGBCI	0.107461	0.21410	N	-0.362300907702796	0.26824	1.466876	-0.280212426500318	0.28750	1.605442	0.999999961424238	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	4.87	3.96	0.45097	1.023000	0.29668	1.786000	0.28758	0.599000	0.40250	0.002000	0.15269	0.937000	0.28687	0.057000	0.15750	0.0:0.92:0.0:0.08	12.717	0.56492	393	0.83123	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	924.98	37	chr11	73394683	.	C	T	924.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.495;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.28;ReadPosRankSum=-6.070e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1088	20	0	1	0
chr11	73900372	73900372	T	A	exonic	PAAF1	.	nonsynonymous SNV	PAAF1:NM_001363556:exon4:c.T487A:p.S163T	.	.	424	1092	5	1	0	7	0.00319489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.761	P	0.239	B	0.001	D	0.988	D	1.89	L	2.14	T	-0.479	T	0.331	T	0.584	4.143	21.4	5.75	2.185	4.126	14.866	0.226	0.0190002837301	.	0.000199681	2.477e-05	0	0	0	0	4.501e-05	0	0	2.59e-05	4	154602	rs187247600	4.793e-06	4.788e-06	2.726e-06	6.882e-06	0.0002	1.99e-06	1.28e-06	7.42e-06	2.78e-06	0	4.478e-05	0	0	0	0.0002	1.8e-06	0	2.324e-05	1.97e-05	1.969e-05	1.285e-05	2.685e-05	0.0001	5.24e-06	2.45e-06	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0	1.47e-05	0	0	0.029	0.52492	D	0.187	0.47336	T	0.761	0.43566	P	0.239	0.38566	B	0.000506	0.43753	D	0.100132	0.98393	0.40696	D	1.5	0.37844	L	0.03	0.62183	T	-2.37	0.54059	N	0.6	0.61849	-0.4786	0.69418	T	0.331	0.69826	T	10	0.26846895	0.44366	T	0.019	0.41240	T	0.226	0.52472	.	.	0.704706922069	0.70214	0.3825191948252419	0.38166	0.452032423143	0.44933	0.609080433846	0.54185	T	0.018836	0.34467	T	-0.108636	0.34993	T	-0.217978	0.52931	T	0.290550600339551	0.24612	T	0.863614	0.87125	D	0.2648957	0.49558	0.2555062	0.51235	0.2648957	0.49557	0.2555062	0.51234	-10.11	0.80365	D	.	.	0.333	0.56455	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	3.413887	0.47373	22.4	0.99181934072603739	0.54701	0.92728	0.56401	D	AEFDBI	0.616495	0.60304	D	0.367628878767692	0.59675	4.14905	0.446031727616733	0.64461	4.701997	0.977683449496855	0.29845	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.75	5.75	0.90390	4.125000	0.57683	4.852000	0.45385	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.866	0.70055	233	0.90919	.;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain;.;WD40-repeat-containing domain;.;.;WD40-repeat-containing domain;.;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1121.98	33	chr11	73900372	.	T	A	1121.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.220e-01;DP=814;ExcessHet=0.0000;FS=1.755;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.20;ReadPosRankSum=0.071;SOR=0.901	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr11	74005915	74005915	C	T	exonic	UCP3	.	nonsynonymous SNV	UCP3:NM_003356:exon4:c.G356A:p.R119Q	.	.	.	.	.	.	.	.	.	.	.	752954	not_provided|Obesity|UCP3-related_disorder	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.976	D	0.000	D	1.000	D	1.77	L	-1.22	T	0.189	D	0.590	D	0.858	5.656	36	5.72	2.709	7.742	19.472	0.780	0.0891063907816	0.0005	0.00159744	0.0006	0.0010	0	0.0074	0	3.024e-05	0	0	0.0005692	88	154602	rs17848372	0.0002	0.0002	0.0002	0.0002	0.0052	0.0002	0.0002	0.0047	0.0044	0.0005	2.236e-05	0	0.0052	0	0	2.518e-05	0.0003	5.797e-05	0.0004	0.0004	0.0003	0.0005	0.0062	0.0003	0.0003	0.0045	0.0039	0.0006	0	0.0003	0	0.0062	0	0	2.941e-05	0.0005	0	0.003	0.68238	D	0.023	0.57104	D	0.999	0.77913	D	0.976	0.73562	D	0.000001	0.62929	D	0.063639	0.999984	0.81001	D	1.22	0.30592	L	-1.22	0.78752	T	-2.86	0.63090	D	0.884	0.88246	0.189	0.85725	D	0.590	0.85333	D	10	0.056741625	0.06407	T	0.089106	0.75263	D	0.780	0.92664	.	.	0.890335178546	0.88925	0.6385999121463085	0.63793	0.308509274042	0.33167	0.512405991554	0.40558	T	0.326974	0.69753	T	-0.021283	0.48672	T	0.204471	0.83371	D	0.0915044307672828	0.11395	T	0.79872	0.46599	T	0.809698	0.84533	0.6452301	0.79259	0.80963385	0.84530	0.72971857	0.84031	-11.303	0.82068	D	0.5900706876693069	0.65686	0.421	0.60699	A	.;.	.;.	5.427540	0.90774	31	0.99943263721450493	0.99848	0.99180	0.92409	D	AEFDBI	0.927409	0.91001	D	0.785219564287516	0.85172	8.497725	0.785470531971342	0.88766	9.706783	0.99999999999999	0.74766	0.554377	0.28877	0	0.624146	0.53433	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.72	5.72	0.89380	7.828000	0.84883	4.799000	0.44955	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	19.472	0.94959	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	963.98	36	chr11	74005915	.	C	T	963.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.61;DP=774;ExcessHet=0.0000;FS=8.388;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.20;ReadPosRankSum=-1.058e+00;SOR=1.725	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1210	20	0	1	0
chr11	74034038	74034038	G	A	exonic	C2CD3	.	nonsynonymous SNV	C2CD3:NM_001286577:exon31:c.C6122T:p.A2041V,	.	.	428	1046	45	3	0	51	0.0237984	.	.	1636264	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.38	T	.	.	.	.	0.303	N	1.000	N	.	.	2.89	T	-0.956	T	0.014	T	0.062	0.739	7.921	0.757	0.107	0.702	7.148	0.022	.	.	0.00419329	0.0103	0.0029	0.0105	0	0.0012	0.0118	0.0155	0.0121	0.0024903	385	154602	rs145765035	0.0102	0.0097	0.0100	0.0105	0.0207	0.0101	0.0100	0.0177	0.0165	0.0013	0.0088	0.0141	2.798e-05	0.0021	0.0207	0.0107	0.0105	0.0144	0.0072	0.0072	0.0069	0.0076	0.0149	0.0069	0.0067	0.0122	0.0111	0.0019	0	0.0105	0.0118	0.0006	0.0020	0.0170	0.0103	0.0104	0.0149	0.357	0.12032	T	1.0	0.01155	T	.	.	.	.	.	.	0.303068	0.14564	N	0.568389	1	0.08975	N	0.69	0.16971	N	2.89	0.10196	T	-0.68	0.19509	N	0.049	0.02088	-0.9562	0.39879	T	0.014	0.05513	T	7	0.0032682419	0.00056	T	.	.	.	0.022	0.04323	.	.	0.190952846119	0.18690	0.09636815681837105	0.09568	.	.	.	.	.	0.014624	0.12415	T	-0.686165	0.00044	T	-0.746728	0.03615	T	0.00242903817196853	0.00025	T	0.384762	0.09420	T	0.014301993	0.00088	0.027103482	0.00840	0.018582454	0.00379	0.027103482	0.00840	-3.909	0.22438	T	0.4769490741205062	0.55632	0.086	0.10449	B	.	.	0.334210	0.07081	3.651	0.96379676144853632	0.29614	0.16803	0.19556	N	AEFBI	0.042617	0.06635	N	-0.505629189530834	0.21898	1.165457	-0.619008337508464	0.19005	1.017794	0.725674567777487	0.22984	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.03	0.757	0.17574	0.457000	0.21588	-0.302000	0.10107	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.381000	0.26357	0.2722:0.1111:0.6167:0.0	7.148	0.24772	325	0.86759	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	5198.11	38	chr11	74034038	.	G	A	5198.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.201e+00;DP=1060;ExcessHet=0.1072;FS=1.217;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.90;ReadPosRankSum=-4.800e-01;SOR=0.762	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1317	19	0	2	0
chr11	74103360	74103360	G	C	exonic	C2CD3	.	nonsynonymous SNV	C2CD3:NM_001286577:exon14:c.C2351G:p.T784R	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.095	B	0.047	B	0.608	N	1.000	N	0	N	2.94	T	-0.945	T	0.013	T	0.171	0.568	7.069	0.546	0.114	0.214	1.966	0.011	0.00705349762013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.523	0.32296	T	0.513	0.10714	T	0.095	0.25437	B	0.047	0.24832	B	0.608323	0.05686	N	1.215780	1	0.08975	N	-0.345	0.03330	N	2.93	0.09822	T	-0.66	0.20576	N	0.14	0.13911	-0.9451	0.41797	T	0.013	0.05081	T	10	0.036692053	0.01981	T	0.007053	0.18676	T	0.011	0.01250	0.221	0.14371	0.0482279557977	0.04254	0.32646794476371976	0.32559	0.111390099725	0.12571	0.219556346536	0.01284	T	0.016821	0.13832	T	-0.299961	0.08663	T	-0.66865	0.07696	T	0.0519662962114301	0.05841	T	0.660234	0.26930	T	0.04692373	0.07935	0.051157076	0.08175	0.04692373	0.07934	0.051157076	0.08174	-4.093	0.25775	T	0.12914629773743164	0.13457	0.086	0.10497	B	.;.	.;.	0.108156	0.05080	1.619	0.44234182325852794	0.03386	0.12448	0.17275	N	AEFBI	0.088463	0.17935	N	-1.1915238590255	0.05128	0.233018	-1.15402738096661	0.06695	0.3231715	0.00178307417656916	0.08881	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.82	0.546	0.16386	0.268000	0.18336	0.388000	0.17857	-0.063000	0.16611	0.000000	0.06391	0.000000	0.08366	0.152000	0.20376	0.54:0.1233:0.217:0.1197	1.966	0.03189	461	0.78683	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3173.98	36	chr11	74103360	.	G	C	3173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=940;ExcessHet=0.0000;FS=2.838;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=-1.215e+00;SOR=0.772	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1193	20	0	1	0
chr11	74289130	74289130	C	A	exonic	P4HA3	.	nonsynonymous SNV	P4HA3:NM_001288748:exon5:c.G718T:p.A240S	.	.	.	.	.	.	.	.	.	0.8807	0.532	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.435	B	0.084	B	0.000	D	0.919	N	1.7	L	0.02	T	-0.780	T	0.183	T	0.197	1.748	11.81	4.54	2.822	2.826	13.103	0.105	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1485380008	7.013e-07	1.368e-05	1.394e-06	0	9.136e-07	0	0	.	.	0	0	0	0	0	0	9.136e-07	0	0	0	6.672e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.369	0.12109	T	0.624	0.07342	T	0.002	0.09854	B	0.007	0.12992	B	0.000007	0.62929	D	0.109431	0.919329	0.27330	N	2.47	0.71715	M	0.02	0.62318	T	-0.26	0.11185	N	0.503	0.57518	-0.7800	0.56303	T	0.183	0.53133	T	10	0.43005258	0.57430	T	0.012719	0.31538	T	0.105	0.29889	0.62	0.75461	0.597869843003	0.59466	0.15516475899739487	0.15437	0.0636332509253	0.07085	0.434165477753	0.29779	T	0.14338	0.47946	T	-0.111285	0.34555	T	-0.39763	0.33661	T	0.816074073314667	0.47483	D	0.836316	0.50742	T	0.091020934	0.21317	0.08798497	0.20486	0.091020934	0.21316	0.08798497	0.20485	-5.576	0.45943	T	.	.	0.109	0.27433	B	.;.	.;.	3.577172	0.50415	22.9	0.98763516333551482	0.45847	0.92049	0.54832	D	AEFDBIJ	0.497315	0.53189	N	0.0295223905476418	0.43201	2.617726	0.127038249076202	0.45937	2.848128	0.999999185478745	0.74766	0.780599	0.99702	0	0.573888	0.26702	0	0.573888	0.23631	0	0.600164	0.37192	1	.	.	4.54	4.54	0.55220	2.833000	0.47861	5.680000	0.49291	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.748000	0.35716	0.0:1.0:0.0:0.0	13.103	0.58648	566	0.70798	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	45.98	38	chr11	74289130	.	C	A	45.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.360e-01;DP=625;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=3.54;ReadPosRankSum=0.741;SOR=0.283	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:85:.:.:0,85,1079	20	0	1	0
chr11	74457316	74457316	C	T	exonic	KCNE3	.	nonsynonymous SNV	KCNE3:NM_005472:exon3:c.G248A:p.R83H,	Brugada syndrome 6	.	0	1520	2	0	0	2	0.000657462	.	.	20580	Brugada_syndrome_6|not_provided|Cardiovascular_phenotype|Encephalopathy,_neonatal_severe,_with_lactic_acidosis_and_brain_abnormalities|Periodic_paralysis|not_specified|Syncope|Ventricular_fibrillation|Cardiomyopathy	MONDO:MONDO:0013145,MedGen:C2751089,OMIM:613119,Orphanet:130|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0060562,MedGen:C4540052,OMIM:617668|Human_Phenotype_Ontology:HP:0003768,MONDO:MONDO:0016122,MedGen:C1279412,Orphanet:206976|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001279,MedGen:C0039070|EFO:EFO_0004287,Human_Phenotype_Ontology:HP:0001663,Human_Phenotype_Ontology:HP:0005166,MONDO:MONDO:0000190,MedGen:C0042510|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.003	B	0.003	B	0.001	N	0.518	D	1.67	L	-3.08	D	0.052	D	0.548	D	0.677	1.217	9.939	3.37	0.782	1.786	7.208	0.584	0.0346984020733	0.0051	0.000998403	0.0030	0.0010	0.0029	0	0.0029	0.0044	0	0.0005	0.0030595	473	154602	rs17215437	0.0049	0.0049	0.0050	0.0047	0.0058	0.0048	0.0047	0.0057	0.0057	0.0012	0.0027	0.0003	5.038e-05	0.0030	0.0009	0.0058	0.0045	0.0002	0.0038	0.0038	0.0041	0.0035	0.0062	0.0036	0.0034	0.0057	0.0055	0.0013	0	0.0048	0.0003	0.0002	0.0022	0	0.0062	0.0028	0	0.044	0.41096	D	0.077	0.42436	T	0.003	0.11197	B	0.003	0.08700	B	0.000953	0.40932	N	0.171732	0.51775	0.31871	D	2.215	0.62545	M	-3.08	0.92560	D	-4.39	0.77225	D	0.473	0.70878	0.052	0.83278	D	0.548	0.83417	D	10	0.012397826	0.00266	T	0.034698	0.55851	D	0.584	0.83305	.	.	0.926147321073	0.92539	0.8785517873384316	0.87822	0.153314388227	0.17299	0.572439908981	0.49023	T	0.877715	0.97412	D	-0.137141	0.30345	T	0.0313209	0.72364	D	0.0270007117914107	0.01544	T	0.711029	0.32195	T	0.49410504	0.66747	0.47591087	0.69631	0.49410504	0.66748	0.47591087	0.69632	-9.373	0.70066	D	0.5753466949753158	0.64234	0.090	0.12985	B	.;.;.	.;.;.	3.778084	0.54301	23.5	0.97865474028843114	0.36492	0.69185	0.34088	D	AEFDBI	0.252098	0.37185	N	-0.487635440452994	0.22485	1.200961	-0.400166926750244	0.24992	1.371823	0.999923799445087	0.46280	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.22	3.37	0.37692	1.997000	0.40406	1.806000	0.28922	-0.842000	0.02783	0.995000	0.38783	1.000000	0.68203	0.944000	0.48669	0.0:0.7347:0.0:0.2653	7.208	0.25095	460	0.78750	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1372.98	33	chr11	74457316	.	C	T	1372.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=838;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=-6.520e-01;SOR=0.735	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1057	20	0	1	0
chr11	74492211	74492211	T	A	exonic	LIPT2	.	nonsynonymous SNV	LIPT2:NM_001144869:exon2:c.A620T:p.E207V,	.	.	423	1047	49	3	0	55	0.0255933	.	.	1604921	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.04	D	0.949	P	0.514	P	0.000	D	1.000	D	2.31	M	-3.96	D	0.723	D	0.825	D	0.704	4.356	23.0	5.25	1.975	7.595	13.126	0.851	.	0.0018	0.00579073	0.0111	0	0.0049	0	0	0.0051	0.0041	0.0244	0.0021733	336	154602	rs141813641	0.0033	0.0032	0.0027	0.0040	0.0253	0.0032	0.0032	0.0244	0.0240	0.0004	0.0041	0.0149	5.596e-05	0.0003	0.0179	0.0016	0.0052	0.0253	0.0032	0.0032	0.0025	0.0040	0.0247	0.0030	0.0029	0.0211	0.0197	0.0004	0	0.0095	0.0104	0	0.0004	0.0170	0.0022	0.0057	0.0247	0.033	0.44358	D	0.034	0.52727	D	0.949	0.53761	P	0.514	0.48013	P	0.000027	0.55875	D	0.117372	1	0.81001	D	3.005	0.85968	M	-3.96	0.96208	D	-5.5	0.85844	D	0.354	0.39558	0.723	0.93464	D	0.825	0.94111	D	10	0.008795619	0.00199	T	.	.	.	0.851	0.95396	.	.	0.475741759771	0.47203	0.9365910790192148	0.93639	.	.	0.341749250889	0.16700	T	0.148517	0.48710	T	0.00168011	0.51886	T	0.248561	0.85553	D	0.0968409808715536	0.12005	T	0.839416	0.51368	T	0.42203003	0.62227	0.37563127	0.62703	0.42203003	0.62227	0.37563127	0.62703	-11.143	0.80436	D	0.2682583130442304	0.36129	0.451	0.62236	A	.	.	4.814382	0.78358	26.9	0.99324259331765385	0.59507	0.96832	0.71180	D	AEFDGBCIJ	0.885805	0.81665	D	0.584661802933608	0.72217	5.771062	0.592416165450865	0.74393	6.129732	0.999999999999988	0.74766	0.660085	0.49399	0	0.627608	0.54475	0	0.662677	0.59975	0	0.563494	0.21769	0	.	.	5.25	5.25	0.73169	7.602000	0.82038	7.790000	0.68871	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.505000	0.29129	0.0:0.0:0.0:1.0	13.126	0.58773	343	0.85802	Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL), catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	6688.68	33	chr11	74492211	.	T	A	6688.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.720e+00;DP=1161;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=0.142;SOR=0.704	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	3	0
chr11	74497344	74497344	C	T	exonic	LOC100287896	.	nonsynonymous SNV	LOC100287896:NM_001319240:exon2:c.C439T:p.R147C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.823e-05	0.0005	0	0	0	0	0	0	6.5e-06	1	154602	rs780783153	6.874e-05	3.499e-05	0.0001	4.026e-05	0.0002	4.512e-05	3.843e-05	4.755e-05	3.807e-05	0.0002	3.666e-05	0	0.0002	0	0	8.179e-05	0.0001	1.674e-05	9.211e-05	9.197e-05	0.0001	6.733e-05	0.0002	5.534e-05	4.37e-05	9.578e-05	6.972e-05	0.0002	0	6.55e-05	0	0	0	0	7.356e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	473.98	30	chr11	74497344	.	C	T	473.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.71;DP=722;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.77;ReadPosRankSum=0.640;SOR=0.715	GT:AD:DP:GQ:PL	0/0:30,0:30:81:0,81,1215	20	0	1	0
chr11	74497429	74497429	G	A	exonic	LOC100287896	.	nonsynonymous SNV	LOC100287896:NM_001319240:exon2:c.G524A:p.C175Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	57.56	25	chr11	74497429	.	G	A	57.56	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.059e+00;DP=703;ExcessHet=0.1072;FS=183.064;InbreedingCoeff=-0.0625;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.83;ReadPosRankSum=1.17;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:24,0:24:18:.:.:0,18,544	19	0	2	0
chr11	74618680	74618680	C	T	exonic	POLD3	.	nonsynonymous SNV	POLD3:NM_001363597:exon6:c.C419T:p.P140L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.925	P	0.626	P	0.002	N	1.000	D	1.95	M	.	.	-0.651	T	0.262	T	0.355	3.345	17.26	5.27	2.750	1.880	16.440	0.114	0.00908830427736	.	.	8.244e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs749927729	9.577e-06	9.577e-06	4.084e-06	1.513e-05	0.0002	5.56e-06	4.35e-06	3.765e-05	2.662e-05	0	2.236e-05	0	0	0	0.0002	4.496e-06	0	8.116e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.58626	D	0.145	0.41913	T	0.925	0.51395	P	0.626	0.51600	P	0.001631	0.38439	N	0.263469	0.999952	0.58761	D	2.4	0.69460	M	.	.	.	-2.13	0.51811	N	0.179	0.19325	-0.6507	0.62684	T	0.262	0.63253	T	8	0.20224983	0.36337	T	0.009088	0.23917	T	0.114	0.32008	0.427	0.47350	0.279809986126	0.27602	0.1617480708777517	0.16095	0.14978819683	0.16892	0.311550855637	0.12141	T	0.181523	0.53322	T	-0.0840908	0.39046	T	-0.261713	0.48653	T	0.661208391189575	0.38949	D	0.80142	0.49436	T	0.07517062	0.16919	0.0840114	0.19296	0.07517062	0.16918	0.0840114	0.19295	-4.292	0.28065	T	.	.	0.07	0.12084	B	.;.;.;.	.;.;.;.	3.179651	0.43155	21.7	0.99795829513380963	0.88106	0.60146	0.31113	D	AEFDGBI	0.306546	0.41367	N	0.156689492895047	0.49129	3.116797	0.0989279347226422	0.44495	2.730163	0.999987328304434	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	2.211000	0.42465	3.293000	0.37321	0.549000	0.26987	0.018000	0.19461	0.998000	0.33993	0.609000	0.31615	0.0:1.0:0.0:0.0	16.440	0.83736	313	0.87327	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1654.98	39	chr11	74618680	.	C	T	1654.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.434e+00;DP=875;ExcessHet=0.0000;FS=0.792;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.61;ReadPosRankSum=0.306;SOR=0.576	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1575	20	0	1	0
chr11	74749159	74749159	A	T	exonic	RNF169	.	nonsynonymous SNV	RNF169:NM_001098638:exon1:c.A279T:p.Q93H,	.	.	431	1089	2	0	0	2	0.000917431	.	.	2360609	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	0.971	D	0.69	P	0.873	U	1.000	N	0.415	N	-1.22	T	-0.645	T	0.280	T	0.228	1.613	11.35	-6.44	-1.125	-0.273	9.098	0.338	0.839004768283	.	.	0.0018	0	0	0	.	0.0093	0	0.0010	5.17e-05	8	154602	rs766525646	0.0001	0.0001	0.0001	0.0002	0.0011	0.0001	0.0001	0.0008	0.0007	0	0	0.0016	0	0	0.0003	0.0001	0.0002	0.0011	0.0001	0.0001	0.0001	9.589e-05	0.0010	6.624e-05	5.414e-05	0.0004	0.0003	0	0	0	0.0029	0	0	0	0	0.0005	0.0010	0.024	0.47745	D	0.026	0.55759	D	0.971	0.57185	D	0.69	0.53781	P	0.873379	0.08808	U	0.910342	1	0.08975	N	1.045	0.26769	L	-1.22	0.78752	T	-2.52	0.54702	D	0.191	0.20925	-0.6448	0.62940	T	0.280	0.65229	T	10	0.012994021	0.00277	T	0.839005	0.98755	D	0.338	0.66010	0.542	0.65446	0.76726031293	0.76513	0.36409549242919476	0.36323	0.547303286906	0.51699	0.905795574188	0.97058	D	0.185033	0.53787	T	-0.237499	0.15670	T	-0.236196	0.51169	T	0.522682905197144	0.33464	D	0.539146	0.18203	T	0.11964006	0.28167	0.117046975	0.28256	0.11964006	0.28167	0.117046975	0.28256	-3.807	0.20909	T	.	.	0.269	0.50352	B	.	.	0.548935	0.09173	5.958	0.88086535469275684	0.17706	0.04260	0.09791	N	AEFDBHCIJ	0.036775	0.04954	N	-0.813980441814273	0.12953	0.634804	-1.01204407560017	0.09519	0.4740892	0.999999999951446	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.166054	0.03999	2	0.56214	0.19341	0	.	.	3.63	-6.44	0.01749	-0.233000	0.09056	-3.381000	0.02830	-0.212000	0.08331	0.942000	0.32722	0.000000	0.08366	0.005000	0.06747	0.2106:0.1555:0.6339:0.0	9.098	0.35813	494	0.76445	Zinc finger, RING-type|Zinc finger, RING-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	327.98	13	chr11	74749159	.	A	T	327.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.35;DP=460;ExcessHet=0.0000;FS=3.630;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=-1.097e+00;SOR=1.765	GT:AD:DP:GQ:PL	0/1:16,13:29:99:342,0,394	20	0	1	0
chr11	74835878	74835878	G	T	exonic	RNF169	.	nonsynonymous SNV	RNF169:NM_001098638:exon6:c.G1275T:p.E425D,	.	.	435	1078	9	0	0	9	0.00415704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.991	D	0.000	D	1.000	D	2.455	M	0.43	T	-0.387	T	0.320	T	0.604	3.935	20.1	4.12	1.555	4.116	11.187	0.320	.	.	0.00219649	0.0013	0	0.0002	0	0	7.496e-05	0.0011	0.0090	0.0011319	175	154602	rs369569812	0.0007	0.0007	0.0004	0.0009	0.0086	0.0006	0.0006	0.0081	0.0079	0	6.708e-05	0	2.519e-05	0	0.0023	0.0001	0.0008	0.0086	0.0004	0.0004	0.0002	0.0005	0.0091	0.0003	0.0003	0.0070	0.0062	4.813e-05	0	0.0001	0	0	0	0	0.0001	0	0.0091	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999978	0.53665	D	0.895	0.22405	L	0.43	0.56772	T	-1.14	0.29323	N	0.708	0.71143	-0.3870	0.72436	T	0.320	0.68960	T	10	0.009866834	0.00221	T	.	.	.	0.320	0.64215	0.448	0.50793	0.686092073669	0.68341	0.2554635684115935	0.25460	0.747522422216	0.63598	0.729810297489	0.71478	T	0.116785	0.43639	T	-0.318459	0.07025	T	-0.223682	0.52382	T	0.122595287670529	0.14681	T	0.90061	0.65471	D	0.4006415	0.60777	0.3159087	0.57575	0.4006415	0.60777	0.3159087	0.57574	-7.437	0.57165	T	.	.	0.841	0.79302	P	.	.	4.288453	0.65387	24.8	0.9985157809661398	0.93102	0.97739	0.76783	D	AEFGBI	0.555027	0.56563	D	0.52610219863704	0.68639	5.244875	0.491239616784563	0.67407	5.080047	0.997995646202725	0.36288	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.99	4.12	0.47504	4.184000	0.58121	3.508000	0.38821	-0.678000	0.04252	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.1523:0.0:0.8477:0.0	11.187	0.47887	639	0.64210	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1791.98	40	chr11	74835878	.	G	T	1791.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.43;DP=930;ExcessHet=0.0000;FS=10.649;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.32;ReadPosRankSum=-1.538e+00;SOR=0.233	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr11	74848462	74848462	C	A	exonic	XRRA1	.	nonsynonymous SNV	XRRA1:NM_001378171:exon6:c.G397T:p.V133L	.	.	.	.	.	.	.	.	.	0.9840	0.79	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	0.980	N	2.32	M	1.03	T	-0.642	T	0.339	T	0.31	2.822	15.40	3.84	1.354	2.409	8.998	0.155	.	.	.	1.156e-05	0	0	0	0	0	0	9.526e-05	6.5e-06	1	154602	rs746507275	1.516e-05	1.642e-05	1.369e-05	1.666e-05	0.0007	9.93e-06	8.48e-06	0.0002	0.0001	0	2.288e-05	0	0	0	0.0007	1.086e-05	1.668e-05	4.697e-05	2.628e-05	2.625e-05	2.571e-05	2.687e-05	4.412e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0.0034	4.412e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.996	0.68779	D	0.817	0.74454	P	0.000001	0.62929	D	0.000000	0.980045	0.39625	D	2.11	0.58565	M	0.17	0.60485	T	-1.88	0.44094	N	0.623	0.66272	-0.6420	0.63060	T	0.339	0.70526	T	10	0.621803	0.68019	D	0.06576	0.69676	D	0.155	0.40530	0.197	0.10975	0.638697055951	0.63572	0.3358150894898281	0.33494	0.0792000987712	0.08910	0.466926574707	0.34259	T	0.056151	0.30207	T	-0.047546	0.44821	T	-0.306073	0.44079	T	0.86255419254303	0.51285	D	0.779122	0.41328	T	0.39052942	0.60070	0.45884475	0.68560	0.39052942	0.60070	0.45884475	0.68560	-2.997	0.11296	T	.	.	0.557	0.69362	A	.;.;.	.;.;.	4.925329	0.81151	27.5	0.99355666822980326	0.60779	0.85696	0.44857	D	AEFDBCI	0.394118	0.47150	N	0.232929923570568	0.52800	3.452061	0.138610846177606	0.46543	2.898483	0.999333777195799	0.39185	0.460665	0.09802	0	0.577304	0.33150	0	0.536957	0.11973	0	0.491896	0.07777	0	.	.	4.75	3.84	0.43422	2.208000	0.42436	5.746000	0.49600	-0.257000	0.07002	1.000000	0.71638	1.000000	0.68203	0.152000	0.20376	0.0:0.8992:0.0:0.1008	8.998	0.35225	652	0.62785	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1155.98	34	chr11	74848462	.	C	A	1155.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.375e+00;DP=820;ExcessHet=0.0000;FS=1.786;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=0.411;SOR=0.519	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1252	20	0	1	0
chr11	75006172	75006172	A	C	exonic	NEU3	.	nonsynonymous SNV	NEU3:NM_006656:exon3:c.A1066C:p.T356P	.	.	424	1058	38	2	0	42	0.0194625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.001	B	0.006	B	0.126	N	1.000	N	1.085	L	-1.76	D	-0.882	T	0.294	T	0.194	-0.310	2.524	-0.077	-0.170	-0.531	4.429	0.194	.	0.0013	0.00658946	0.0039	0.0004	0.0029	0	0.0002	0.0024	0.0078	0.0161	0.0036545	565	154602	rs143740329	0.0026	0.0026	0.0021	0.0031	0.0162	0.0026	0.0025	0.0155	0.0152	0.0004	0.0024	0.0044	2.519e-05	9.363e-05	0.0113	0.0017	0.0036	0.0162	0.0021	0.0021	0.0020	0.0023	0.0158	0.0019	0.0018	0.0129	0.0119	0.0006	0	0.0036	0.0052	0	0	0.0068	0.0020	0.0043	0.0158	0.389	0.10874	T	0.137	0.33894	T	.	.	.	.	.	.	0.126063	0.02768	N	1.748710	1	0.08975	N	.	.	.	-1.76	0.83578	D	-0.81	0.22294	N	0.059	0.04790	-0.8823	0.49577	T	0.294	0.66574	T	10	0.004731238	0.00100	T	.	.	.	0.194	0.47447	.	.	0.246215685461	0.24236	0.3099720632532257	0.30910	0.0512016197912	0.05634	0.269134581089	0.06028	T	.	.	.	-0.410974	0.01958	T	-0.350138	0.39189	T	0.00551444159673872	0.00060	T	0.167583	0.01563	T	.	.	.	.	.	.	.	.	-2.863	0.08778	T	.	.	0.065	0.02012	B	.;.	.;.	-0.372598	0.02317	0.246	0.78807510916451384	0.12461	0.11115	0.16418	N	AEFBCI	0.051137	0.09005	N	-0.977373718211172	0.09088	0.4287138	-0.994329827854061	0.09912	0.4959492	0.00239079858417211	0.09378	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.09	-0.0767	0.13055	0.053000	0.14067	-0.446000	0.09129	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5712:0.1622:0.2666:0.0	4.429	0.10945	807	0.43470	Sialidase;Sialidase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3485.98	35	chr11	75006172	.	A	C	3485.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.180e-01;DP=998;ExcessHet=0.0000;FS=0.441;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.86;ReadPosRankSum=0.143;SOR=0.724	GT:AD:DP:GQ:PL	0/1:131,140:271:99:3500,0,3229	20	0	1	0
chr11	75200252	75200252	T	G	exonic	SLCO2B1	.	nonsynonymous SNV	SLCO2B1:NM_001145212:exon8:c.T1196G:p.V399G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.0	B	0.002	B	0.072	N	1.000	N	-1.655	N	1.33	T	-1.020	T	0.021	T	0.189	-0.492	1.740	-10.7	-1.839	-4.298	3.482	0.049	0.00701662447304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	8.997e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.997e-07	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.357	0.12032	T	0.401	0.15206	T	.	.	.	.	.	.	0.071706	0.02257	N	1.776740	1	0.08975	N	.	.	.	1.21	0.40218	T	1.05	0.01350	N	0.216	0.27554	-1.0202	0.23649	T	0.021	0.09101	T	10	0.08808592	0.15134	T	0.007017	0.18594	T	0.049	0.13647	0.636	0.77251	0.207176502487	0.20327	0.662942570407099	0.66231	0.332585113786	0.35307	0.264276891947	0.05411	T	0.004086	0.03492	T	-0.299166	0.08740	T	-0.667507	0.07769	T	0.703019678592682	0.40862	D	0.0469953	0.00709	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.01367	B	.;.;.;.;.	.;.;.;.;.	-1.689985	0.00199	0.003	0.42602509334523647	0.03151	0.00981	0.03737	N	AEFDGBI	0.398005	0.47386	N	-2.18605553461058	0.00082	0.003525161	-2.20421827897562	0.00110	0.004818503	0.999999999975251	0.74766	0.525926	0.21836	0	0.59043	0.45803	0	0.615948	0.41167	0	0.542086	0.14980	0	.	.	5.37	-10.7	0.00191	-4.102000	0.00334	-10.355000	0.00711	-1.812000	0.00610	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1709:0.2512:0.0846:0.4934	3.482	0.07171	726	0.54788	Kazal domain;Kazal domain;Kazal domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1433.98	37	chr11	75200252	.	T	G	1433.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.301;DP=852;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=0.408;SOR=0.747	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1403	20	0	1	0
chr11	75429936	75429936	G	A	exonic	KLHL35	.	nonsynonymous SNV	KLHL35:NM_001039548:exon1:c.C694T:p.R232C,	.	.	434	1080	8	0	0	8	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	1.0	D	0.939	D	0.195	N	1.000	N	2.145	M	-0.41	T	-0.733	T	0.360	T	0.455	3.280	17.01	2.34	0.436	2.030	4.365	0.262	0.641029159092	.	0.000998403	0.0025	0	0.0063	0	0	0	0	0.0037	0.0002781	43	154602	rs551557850	0.0003	0.0003	0.0002	0.0004	0.0029	0.0002	0.0002	0.0026	0.0025	3.835e-05	0.0002	0	3.548e-05	0	0.0012	9.353e-05	0.0005	0.0029	0.0002	0.0002	0.0001	0.0002	0.0035	0.0001	0.0001	0.0022	0.0018	0	0	6.544e-05	0	0.0002	0	0.0034	5.885e-05	0.0009	0.0035	0.205	0.22573	T	0.15	0.37589	T	.	.	.	.	.	.	0.195368	0.16738	N	0.578564	0.999891	0.19781	N	.	.	.	-0.41	0.69413	T	-1.34	0.38345	N	0.152	0.20262	-0.7333	0.58796	T	0.360	0.72163	T	10	0.0089455545	0.00202	T	0.641029	0.96940	D	0.262	0.57482	.	.	0.441844919209	0.43804	0.36996556112159346	0.36910	0.0983695897329	0.11110	0.905556023121	0.97033	D	0.27249	0.64488	T	-0.333613	0.05843	T	-0.25598	0.49223	T	0.150394034648191	0.17135	T	0.813919	0.46746	T	0.1207513	0.28409	0.12527245	0.30185	0.1207513	0.28408	0.12527245	0.30185	-8.129	0.61946	D	.	.	0.164	0.44579	B	.;.	.;.	4.183772	0.63000	24.5	0.99801720000296634	0.88639	0.72560	0.35511	D	ALL	0.459403	0.51002	N	0.320569898658909	0.57205	3.887029	0.232744350982989	0.51673	3.347849	0.999999999997827	0.74766	0.59774	0.34471	0	0.552344	0.17405	0	0.378051	0.06126	2	0.63947	0.58350	0	.	.	4.24	2.34	0.28071	2.205000	0.42407	4.507000	0.43632	0.562000	0.28470	0.695000	0.28578	1.000000	0.68203	0.959000	0.51448	0.203:0.1891:0.608:0.0	4.365	0.10655	773	0.48803	BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2886.11	33	chr11	75429936	.	G	A	2886.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.29;DP=895;ExcessHet=0.1072;FS=0.985;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=0.921;SOR=0.636	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,1350	19	0	2	0
chr11	75430256	75430280	GCCGCCGCCTCGTCCTCCGCGCGCA	-	exonic	KLHL35	.	frameshift deletion	KLHL35:NM_001039548:exon1:c.350_374del:p.L117Pfs*32,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	.	0	0	0	3.84e-05	1	26028	rs760150039	9.53e-05	8.414e-05	0.0001	8.402e-05	0.0042	7.971e-05	7.435e-05	0.0035	0.0032	0.0042	0.0001	0	0	0	0.0004	1.103e-06	0.0003	0	0.0014	0.0014	0.0014	0.0013	0.0048	0.0012	0.0011	0.0042	0.0040	0.0048	0	0.0003	0	0	0	0	1.499e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	963.94	25	chr11	75430255	.	GGCCGCCGCCTCGTCCTCCGCGCGCA	G	963.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=856;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.30;ReadPosRankSum=-4.760e-01;SOR=0.682	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1126	20	0	1	0
chr11	75441767	75441767	G	A	exonic	GDPD5	.	nonsynonymous SNV	GDPD5:NM_001351167:exon9:c.C790T:p.R264W	.	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.959	D	0.001	N	0.999	D	2.085	M	2.51	T	-1.083	T	0.079	T	0.67	4.047	20.8	1.94	0.647	2.084	11.801	0.185	0.0448984704328	.	.	2.695e-05	0.0001	0	0	0	1.634e-05	0	6.437e-05	1.94e-05	3	154602	rs779432346	2.4e-05	2.599e-05	2.184e-05	2.618e-05	0.0007	1.743e-05	1.542e-05	0.0002	0.0001	0.0001	6.716e-05	0	0.0002	0	0.0007	9.894e-06	8.29e-05	1.161e-05	6.574e-06	6.568e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0.0032	0	0	0	0.001	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	0.959	0.70163	D	0.001000	0.40743	N	0.229280	0.994922	0.45151	D	2.12	0.58754	M	2.51	0.14284	T	-5.38	0.86222	D	0.609	0.68516	-1.0826	0.06852	T	0.079	0.31375	T	10	0.59246516	0.66457	D	0.044898	0.61715	D	0.185	0.45933	0.57	0.69299	0.45553875121	0.45177	0.7125847121742251	0.71200	0.96835728464	0.73271	0.326151520014	0.14352	T	0.398966	0.75694	T	-0.140347	0.29836	T	-0.257229	0.49101	T	0.605133473873138	0.36605	D	0.972503	0.90184	D	0.47252315	0.65446	0.4084128	0.65159	0.47252315	0.65446	0.4084128	0.65159	-8.888	0.67349	D	.	.	0.112	0.21840	B	.;.;.;.;.	.;.;.;.;.	4.992864	0.82791	27.9	0.99914102139734529	0.98238	0.54356	0.29596	D	AEFGBI	0.360101	0.45019	N	0.23365847811188	0.52835	3.455405	0.125249463432003	0.45844	2.840486	0.999937386509145	0.46732	0.646311	0.45356	0	0.670034	0.63936	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.14	1.94	0.25058	1.804000	0.38510	6.375000	0.55531	0.674000	0.70861	0.222000	0.24557	0.997000	0.33255	0.985000	0.61073	0.0:0.0:0.4097:0.5903	11.801	0.51400	724	0.55085	.;.;Glycerophosphodiester phosphodiesterase domain;Glycerophosphodiester phosphodiesterase domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	683.98	34	chr11	75441767	.	G	A	683.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.539e+00;DP=785;ExcessHet=0.0000;FS=2.263;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.36;ReadPosRankSum=0.504;SOR=0.412	GT:AD:DP:GQ:PL	0/1:37,29:66:99:698,0,1006	20	0	1	0
chr11	75587675	75587675	A	G	exonic	MAP6	.	nonsynonymous SNV	MAP6:NM_033063:exon4:c.T1826C:p.I609T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.0	B	0.0	B	.	.	1.000	N	-0.345	N	0.96	T	-1.004	T	0.037	T	0.036	0.030	4.170	-1.19	-0.293	-1.422	4.878	0.004	0.00645487581026	.	0.000199681	7.416e-05	0	0	0	0	7.492e-05	0	0.0002	8.41e-05	13	154602	rs577814146	8.211e-05	8.21e-05	7.353e-05	9.079e-05	0.0007	7.004e-05	6.554e-05	0.0002	0.0001	2.987e-05	0	0	0	0	0.0007	7.825e-05	0.0001	0.0002	5.261e-05	5.251e-05	5.145e-05	5.381e-05	0.0006	2.559e-05	1.831e-05	0.0002	9.051e-05	0	0	0	0	0	0	0	7.356e-05	0	0.0006	0.659	0.14595	T	0.348	0.35330	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.96	0.42888	T	-0.51	0.15986	N	0.014	0.00160	-1.0042	0.28696	T	0.037	0.15770	T	9	0.01775664	0.00381	T	0.006455	0.16985	T	0.004	0.00165	.	.	0.0666544352282	0.05500	0.010954128050735135	0.01056	0.224661245838	0.24998	0.24787349999	0.03547	T	0.051562	0.28916	T	-0.562933	0.00244	T	-0.786712	0.02256	T	0.017731411383078	0.00503	T	0.405359	0.10397	T	0.027416853	0.01931	0.046998225	0.06672	0.027416853	0.01930	0.046998225	0.06672	-5.288	0.41596	T	.	.	0.106	0.20391	B	.;.	.;.	-0.071849	0.03811	0.810	0.63083788242599037	0.07130	0.02516	0.07015	N	AEFDGBI	0.069889	0.13851	N	-1.53333075871521	0.01634	0.07146844	-1.52762587423608	0.02134	0.0976787	0.627760763150472	0.21941	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.633917	0.49826	0	.	.	4.18	-1.19	0.09091	-0.685000	0.05269	-3.183000	0.02990	0.644000	0.52426	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5764:0.1515:0.2721:0.0	4.878	0.13026	615	0.66512	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2678.98	34	chr11	75587675	.	A	G	2678.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.40;DP=1066;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.88;ReadPosRankSum=-1.296e+00;SOR=0.723	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1188	20	0	1	0
chr11	75790677	75790677	G	C	exonic	DGAT2	.	nonsynonymous SNV	DGAT2:NM_001253891:exon3:c.G246C:p.Q82H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.001	B	0.004	B	0.004	N	0.986	D	0.5	N	2.49	T	-1.040	T	0.019	T	0.213	1.974	12.56	2.84	1.418	0.286	6.881	0.030	0.00666743143697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.25154	T	0.151	0.35205	T	0.0	0.07471	B	0.003	0.10090	B	0.004355	0.33837	N	0.333863	0.97632	0.40428	D	0.855	0.21307	L	2.49	0.14531	T	-1.3	0.32590	N	0.453	0.53093	-1.0397	0.17404	T	0.019	0.08079	T	10	0.22017238	0.38707	T	0.006667	0.17614	T	0.030	0.07022	0.366	0.37361	0.435479573448	0.43164	0.5767030369785602	0.57599	0.124924772156	0.14072	0.412064880133	0.26743	T	0.087399	0.37934	T	-0.243477	0.14909	T	-0.587515	0.13882	T	0.263444721698761	0.23465	T	0.568943	0.21717	T	0.07249969	0.16133	0.07920755	0.17812	0.07249969	0.16132	0.07920755	0.17812	-4.871	0.36861	T	.	.	0.129	0.35684	B	.;.;.;.;.;.	.;.;.;.;.;.	2.261330	0.28895	17.95	0.98836438711233632	0.47052	0.32600	0.24625	N	AEFGBI	0.607410	0.59738	D	-0.458562703827016	0.23450	1.259416	-0.318562139783782	0.27499	1.526353	0.999101394889335	0.38452	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.72	2.84	0.32241	0.145000	0.15978	1.972000	0.29992	0.676000	0.76740	0.026000	0.20160	1.000000	0.68203	0.997000	0.79791	0.3234:0.0:0.6766:0.0	6.881	0.23352	569	0.70546	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1374.98	45	chr11	75790677	.	G	C	1374.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.568e+00;DP=835;ExcessHet=0.0000;FS=5.169;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.75;ReadPosRankSum=-9.470e-01;SOR=1.255	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,114,1279	20	0	1	0
chr11	75983505	75983505	A	C	exonic	UVRAG	.	nonsynonymous SNV	UVRAG:NM_003369:exon8:c.A818C:p.Q273P,	.	.	433	1074	14	1	0	16	0.00739372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.45	B	0.152	B	0.015	N	1.000	D	1.73	L	1.47	T	-1.099	T	0.055	T	0.693	3.540	18.06	5.55	2.326	2.521	13.692	0.069	0.00527099311521	0.0030	0.00219649	0.0024	0.0008	0.0013	0	0.0002	0.0035	0.0033	0.0021	0.0025032	387	154602	rs61749241	0.0037	0.0037	0.0038	0.0037	0.0087	0.0036	0.0036	0.0068	0.0061	0.0010	0.0024	0.0058	7.613e-05	0.0003	0.0087	0.0042	0.0043	0.0020	0.0025	0.0025	0.0027	0.0022	0.0041	0.0023	0.0022	0.0032	0.0031	0.0007	0	0.0041	0.0043	0	0.0002	0.0204	0.0036	0.0043	0.0017	0.049	0.39820	D	0.262	0.26226	T	0.45	0.36066	B	0.152	0.34249	B	0.015458	0.28243	N	0.429335	0.936665	0.81001	D	2.66	0.77858	M	1.47	0.31987	T	-2.93	0.63901	D	0.414	0.45426	-1.0991	0.04202	T	0.055	0.23338	T	10	0.0083040595	0.00188	T	0.005271	0.13464	T	0.069	0.20116	.	.	0.187035705434	0.18338	0.6951477732526464	0.69455	0.710065838509	0.61666	0.401450872421	0.25271	T	0.291091	0.66385	T	-0.296669	0.08977	T	-0.198791	0.54761	T	0.0304529181259057	0.02060	T	0.775622	0.40735	T	0.8479153	0.87182	0.8458338	0.91225	0.8479153	0.87184	0.8458338	0.91226	-7.097	0.54739	T	.	.	0.559	0.67191	A	.;.	.;.	3.806245	0.54877	23.5	0.99170220053341651	0.54355	0.96249	0.68223	D	AEFDGBI	0.500394	0.53367	D	0.173187702427738	0.49914	3.18672	0.292028943857175	0.55074	3.670746	0.999994278177294	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	2.550000	0.45472	8.026000	0.76252	0.726000	0.85437	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	13.692	0.62033	782	0.47442	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1653.98	37	chr11	75983505	.	A	C	1653.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.360e-01;DP=843;ExcessHet=0.0000;FS=1.297;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.95;ReadPosRankSum=-7.960e-01;SOR=0.548	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1212	20	0	1	0
chr11	76140770	76140770	G	T	exonic	UVRAG	.	nonsynonymous SNV	UVRAG:NM_003369:exon15:c.G1457T:p.G486V,	.	.	425	1087	9	1	0	11	0.00503432	.	.	713182	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.32	T	0.328	B	0.104	B	0.034	N	1.000	D	0.345	N	0.78	T	-1.093	T	0.068	T	0.32	0.315	5.708	3.56	0.731	3.185	9.638	0.026	0.0106957493487	0.0034	0.000798722	0.0027	0.0004	0.0015	0	0.0020	0.0038	0.0034	0.0019	0.0027102	419	154602	rs77892162	0.0039	0.0039	0.0040	0.0039	0.0070	0.0038	0.0038	0.0052	0.0047	0.0005	0.0021	0.0056	0	0.0017	0.0070	0.0045	0.0035	0.0020	0.0028	0.0028	0.0027	0.0029	0.0042	0.0026	0.0025	0.0038	0.0037	0.0005	0	0.0034	0.0052	0	0.0025	0	0.0042	0.0052	0.0019	0.224	0.20002	T	0.224	0.26306	T	0.003	0.11197	B	0.003	0.08700	B	0.033922	0.24835	N	0.473930	0.999971	0.54805	D	1.59	0.40313	L	0.78	0.49358	T	-0.4	0.17003	N	0.114	0.13484	-1.0935	0.04974	T	0.068	0.27743	T	10	0.004639685	0.00097	T	0.010696	0.27536	T	0.026	0.05648	.	.	0.151262610727	0.14761	0.3647018448476487	0.36384	0.367113579311	0.38276	0.390290260315	0.23710	T	0.026451	0.29465	T	-0.434226	0.01398	T	-0.395007	0.33966	T	0.00994888201454697	0.00132	T	0.825817	0.48860	T	0.03862857	0.05182	0.057142876	0.10335	0.03862857	0.05182	0.057142876	0.10334	-3.981	0.24713	T	.	.	0.091	0.28492	B	.;.;.;.;.	.;.;.;.;.	2.649948	0.34500	19.64	0.85211953798192897	0.15754	0.79742	0.39574	D	AEFBCI	0.153697	0.27860	N	-0.378172690215141	0.26248	1.431094	-0.243420116895128	0.29997	1.685314	0.526620576436642	0.21141	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.54	3.56	0.39892	3.247000	0.51123	4.446000	0.43404	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.405000	0.26894	0.0:0.1387:0.5743:0.287	9.638	0.38989	380	0.83728	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1540.98	34	chr11	76140770	.	G	T	1540.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.816e+00;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=0.085;SOR=0.689	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1119	20	0	1	0
chr11	76403854	76403854	G	A	exonic	GVQW3	.	nonsynonymous SNV	GVQW3:NM_001282456:exon2:c.G577A:p.E193K,	.	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	.	.	1.000	N	.	.	.	.	-0.967	T	0.112	T	0.096	1.413	10.66	0.597	0.567	0.364	.	0.023	0.00107702933649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.666e-06	4.771e-06	7.994e-06	0	6.37e-06	6.1e-07	2.3e-07	1.06e-06	4e-07	0	0	0	0	0	0	6.37e-06	0	0	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.028	0.46129	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.41	0.14000	N	0.156	0.16168	-0.9665	0.37914	T	0.112	0.40122	T	4	0.09746534	0.17554	T	0.001077	0.01263	T	0.023	0.04649	0.448	0.50793	0.0551355673512	0.04727	0.03143348784525808	0.03092	.	.	.	.	.	0.009447	0.08603	T	-0.250605	0.14023	T	-0.597753	0.13001	T	0.163366657570791	0.18117	T	0.466353	0.13696	T	0.20989902	0.43271	0.16432722	0.38072	0.20989902	0.43271	0.16432722	0.38071	-3.566	0.17367	T	.	.	0.091	0.12938	B	.	.	0.240901	0.06213	2.662	0.980534102618704	0.37890	0.00796	0.03248	N	AEFGBI	0.040092	0.05916	N	-0.580515053116512	0.19536	1.023282	-0.793557721324458	0.14652	0.7667258	6.2600981009044E-5	0.04366	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	0.597	0.597	0.16685	0.365000	0.20076	-0.000000	0.13247	0.373000	0.20310	0.141000	0.23520	0.015000	0.20450	0.040000	0.14268	.	.	.	865	0.32612	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1426.98	34	chr11	76403854	.	G	A	1426.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.121;DP=802;ExcessHet=0.0000;FS=2.553;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=-6.490e-01;SOR=0.446	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1158	20	0	1	0
chr11	76403938	76403938	A	C	exonic	GVQW3	.	nonsynonymous SNV	GVQW3:NM_001282456:exon2:c.A661C:p.M221L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	-1.008	T	0.081	T	0.203	1.114	9.545	0.597	0.475	0.901	.	0.037	0.00204619290067	.	0.000599042	0.0004	0	0.0056	0	0	0.0009	0.0078	0	0.0002393	37	154602	rs142522395	0.0006	0.0006	0.0006	0.0006	0.0015	0.0006	0.0006	0.0012	0.0011	0	0.0015	0	0	2.977e-05	0.0010	0.0008	0.0008	0	0.0018	0.0018	0.0020	0.0016	0.0014	0.0016	0.0016	0.0009	0.0008	0.0002	0.1923	0.0014	0	0	0.0002	0	0.0010	0.0014	0	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.23	0.10656	N	0.257	0.29081	-1.0083	0.27448	T	0.081	0.31913	T	3	0.0024774075	0.00037	T	0.002046	0.03721	T	0.037	0.09474	0.377	0.39156	0.0611884634855	0.05136	0.05169454920146867	0.05111	.	.	.	.	.	0.008375	0.07697	T	-0.434295	0.01397	T	-0.421239	0.30934	T	0.0478203110007061	0.05112	T	0.30207	0.05709	T	0.68416625	0.77194	0.53697884	0.73243	0.68416625	0.77196	0.53697884	0.73243	-2.228	0.04178	T	.	.	0.158	0.34992	B	.	.	0.997638	0.13759	10.30	0.82596441659246755	0.14275	0.04607	0.10264	N	AEFBI	.	.	.	-0.527049170910825	0.21210	1.123876	-0.708672430121956	0.16745	0.8872581	1.39751527619454E-5	0.02871	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.579976	0.35079	0	.	.	0.597	0.597	0.16685	0.895000	0.27996	0.600000	0.19915	0.587000	0.30956	0.727000	0.28892	0.100000	0.22660	0.887000	0.42601	.	.	.	865	0.32612	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1080.98	34	chr11	76403938	.	A	C	1080.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.348;DP=797;ExcessHet=0.0000;FS=0.751;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.70;ReadPosRankSum=-1.387e+00;SOR=0.848	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1158	20	0	1	0
chr11	76411063	76411063	C	G	exonic	GVQW3	.	nonsynonymous SNV	GVQW3:NM_001347884:exon2:c.C667G:p.L223V,	.	.	1090	430	2	0	0	2	0.00232019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00239617	.	.	.	.	.	.	.	.	0.0006916	18	26028	rs574655085	0	1.908e-05	0	0	.	0	0	.	.	.	.	.	.	.	0	0	.	.	0.0003	0.0003	0.0002	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	0	0	0.0005	0.0006	0	0	0	0.0002	0	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2459.11	43	chr11	76411063	.	C	G	2459.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.762e+00;DP=941;ExcessHet=0.1072;FS=12.151;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.73;ReadPosRankSum=-9.430e-01;SOR=0.242	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	19	0	2	0
chr11	76546239	76546239	G	A	exonic	EMSY	.	nonsynonymous SNV	EMSY:NM_001300943:exon20:c.G3719A:p.R1240H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.147	B	0.009	B	0.081	N	1.000	D	-0.345	N	.	.	-1.038	T	0.074	T	0.619	2.002	12.65	5.15	1.574	2.296	9.398	0.130	0.00233498266096	.	.	5.001e-05	9.972e-05	0	0	0.0003	1.515e-05	0	0.0001	3.88e-05	6	154602	rs775396242	1.3e-05	1.3e-05	9.529e-06	1.65e-05	8.961e-05	8.31e-06	6.7e-06	2.374e-05	1.258e-05	8.961e-05	0	0	0	5.617e-05	0	7.195e-06	3.311e-05	3.479e-05	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.414e-05	5.24e-06	2.45e-06	.	.	2.414e-05	0	0	0	0	0.0002	0	0	0	0	0.185	0.35726	T	0.167	0.31527	T	0.004	0.12183	B	0.001	0.04355	B	0.080972	0.20893	N	0.543300	0.981828	0.81001	D	0	0.06538	N	.	.	.	-1.23	0.31170	N	0.251	0.28381	-1.0385	0.17771	T	0.074	0.29834	T	9	0.12562853	0.23875	T	0.002335	0.04507	T	0.286	0.60456	.	.	0.0934897674506	0.08844	0.14878667684364474	0.14800	0.0791623941424	0.08904	.	.	.	0.028114	0.30280	T	-0.0929815	0.37582	T	-0.18981	0.55608	T	0.0807030722498894	0.10077	T	0.927007	0.75150	D	0.037908927	0.04951	0.04186062	0.04853	0.037908927	0.04951	0.04186062	0.04853	-2.899	0.09133	T	.	.	0.094	0.17785	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.603582	0.50915	23.0	0.97012862812725997	0.31993	0.76864	0.37733	D	AEFDGBI	0.151838	0.27639	N	0.0463649084956424	0.43974	2.68012	0.20240812210572	0.49980	3.195016	0.565082174451065	0.21446	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.06	5.15	0.70287	2.336000	0.43597	8.665000	0.77987	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.2226:0.0:0.7774:0.0	9.398	0.37578	840	0.37365	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1204.98	34	chr11	76546239	.	G	A	1204.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.678;DP=854;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.48;ReadPosRankSum=-2.420e-01;SOR=0.737	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1112	20	0	1	0
chr11	76795629	76795631	CTG	-	exonic	TSKU	.	nonframeshift deletion	TSKU:NM_001258210:exon2:c.13_15del:p.L9del	.	.	375	1091	56	0	0	56	0.0250223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0413	0.0372	0.0486	0.0402	0.0415	0.0386	0.0385	0.0507	0.0008452	22	26028	rs149062181	0.0001	0.0072	9.125e-05	0.0001	0.0002	9.903e-05	9.372e-05	0.0001	8.924e-05	3.022e-05	0.0001	0.0002	0.0001	0.0013	0.0002	5.647e-05	8.417e-05	0.0002	6.578e-06	0.0001	0	1.347e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	104.94	36	chr11	76795628	.	CCTG	C	104.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=974;ExcessHet=0.0000;FS=2.124;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.95;ReadPosRankSum=1.34;SOR=0.628	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1243	20	0	1	0
chr11	77102945	77102945	G	A	exonic	OMP	.	nonsynonymous SNV	OMP:NM_006189:exon1:c.G106A:p.G36R,	.	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.642	P	0.161	B	.	.	1.000	D	0.805	L	1.17	T	-1.097	T	0.018	T	0.175	3.625	18.44	4.13	2.675	2.093	4.785	0.084	.	0.0107	0.0091853	0.0029	0.0348	0.0010	0	0	9.262e-05	0.0012	0.0001	0.0028072	434	154602	rs2233548	0.0010	0.0010	0.0012	0.0009	0.0365	0.0010	0.0009	0.0348	0.0341	0.0365	0.0013	0	0	0	0.0010	7.105e-05	0.0017	4.637e-05	0.0094	0.0094	0.0097	0.0091	0.0330	0.0090	0.0088	0.0316	0.0310	0.0330	0	0.0024	0	0	0	0	2.94e-05	0.0080	0.0004	0.006	0.61437	D	0.02	0.58613	D	0.642	0.40458	P	0.161	0.34794	B	.	.	.	.	1	0.81001	D	1.495	0.37439	L	1.17	0.37910	T	-4.43	0.77554	D	0.316	0.35620	-1.0970	0.04474	T	0.018	0.07659	T	9	0.004181236	0.00083	T	.	.	.	0.084	0.24469	0.189	0.09907	0.0551355673512	0.04727	0.14134222086519388	0.14057	0.508907322124	0.49035	0.398636013269	0.24879	T	0.237135	0.60475	T	-0.470607	0.00843	T	-0.423009	0.30732	T	0.0521805359844833	0.05879	T	0.779322	0.41328	T	0.31656313	0.54348	0.4309124	0.66726	0.31656313	0.54348	0.4309124	0.66726	-2.058	0.03408	T	.	.	0.204	0.42976	B	.	.	3.651815	0.51831	23.2	0.99916601443515773	0.98449	0.58885	0.30763	D	AEFDGBI	0.094862	0.19173	N	0.083943397921915	0.45715	2.823383	0.186814847202179	0.49125	3.11945	0.985133884994672	0.30834	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.12	4.13	0.47661	1.490000	0.35181	5.613000	0.49061	0.676000	0.76740	0.273000	0.25075	1.000000	0.68203	0.769000	0.36481	0.252:0.0:0.748:0.0	4.785	0.12591	526	0.73951	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1153.98	34	chr11	77102945	.	G	A	1153.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=-5.800e-02;SOR=0.627	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,102,1530	20	0	1	0
chr11	77179124	77179124	G	A	exonic	MYO7A	.	nonsynonymous SNV	MYO7A:NM_000260:exon20:c.G2362A:p.G788R	Deafness, autosomal dominant 11, Autosomal dominant;Deafness, autosomal recessive 2, Autosomal recessive;Usher syndrome, type 1B, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	947686	Usher_syndrome_type_1B|not_provided	MONDO:MONDO:0700087,MedGen:C2931206|MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.55	T	0.0	B	0.002	B	0.002	N	1.000	N	-1.01	N	-0.4	T	-1.030	T	0.073	T	0.101	-0.303	2.557	2.96	1.038	1.196	5.665	0.054	0.0434217532097	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1174297656	2.764e-06	3.42e-06	1.372e-06	4.177e-06	2.562e-05	6.5e-07	4.4e-07	.	.	0	2.32e-05	0	2.562e-05	0	0	9.046e-07	0	1.196e-05	6.569e-06	6.566e-06	1.284e-05	0	6.54e-05	0	0	.	.	0	0	6.54e-05	0	0	0	0	0	0	0	0.534	0.06935	T	0.59	0.08535	T	0.0	0.02946	B	0.002	0.06944	B	0.002195	0.37053	N	0.228496	0.999998	0.08975	N	-1.425	0.00578	N	-0.4	0.69287	T	1.1	0.01280	N	0.262	0.29889	-1.0296	0.20583	T	0.073	0.29483	T	10	0.04524219	0.03571	T	0.043422	0.60977	D	0.054	0.15330	0.427	0.47350	0.552326942858	0.54890	0.5580542470242102	0.55732	0.10106423559	0.11422	0.373134732246	0.21280	T	0.136554	0.46899	T	-0.209625	0.19432	T	-0.538888	0.18406	T	0.114232853055	0.13857	T	0.90111	0.69728	D	0.0779042	0.17710	0.07993205	0.18038	0.0779042	0.17709	0.07993205	0.18038	-11.329	0.81431	D	0.05300820745509163	0.01049	0.148	0.32589	B	.;.;.;.;.	.;.;.;.;.	2.454203	0.31607	18.79	0.48862887033006097	0.04113	0.17301	0.19777	N	AEFDBI	0.273884	0.38919	N	-1.00029221102829	0.08598	0.4037377	-0.865544141366955	0.12914	0.6670749	0.999954028505916	0.48110	0.57788	0.32782	0	0.59043	0.45803	0	0.608075	0.38828	0	0.613276	0.41899	0	.	.	4.87	2.96	0.33383	0.741000	0.25870	5.864000	0.50463	0.601000	0.45875	0.000000	0.06391	0.994000	0.32194	0.962000	0.52141	0.1683:0.168:0.6636:0.0	5.665	0.16963	604	0.67577	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site;IQ motif, EF-hand binding site|IQ motif, EF-hand binding site;.;.;IQ motif, EF-hand binding site|IQ motif, EF-hand binding site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1181.98	34	chr11	77179124	.	G	A	1181.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.960;DP=805;ExcessHet=0.0000;FS=9.770;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=1.76;SOR=0.995	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1172	20	0	1	0
chr11	77181571	77181571	G	C	exonic	MYO7A	.	nonsynonymous SNV	MYO7A:NM_000260:exon23:c.G2886C:p.Q962H	Deafness, autosomal dominant 11, Autosomal dominant;Deafness, autosomal recessive 2, Autosomal recessive;Usher syndrome, type 1B, Autosomal recessive	YES	1	1515	6	0	0	6	0.00197628	.	.	52364	Usher_syndrome_type_1|not_specified|not_provided|Hearing_impairment|Autosomal_dominant_nonsyndromic_hearing_loss_11|Autosomal_recessive_nonsyndromic_hearing_loss_2	MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666|MONDO:MONDO:0011032,MedGen:C1832475,OMIM:601317,Orphanet:90635|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.902	P	0.547	P	0.000	D	1.000	D	2.175	M	-2.22	D	0.356	D	0.672	D	0.374	3.111	16.39	4.38	1.178	1.339	10.480	0.509	0.142729787417	0.0006	0.000399361	0.0007	0	0.0004	0	0	0.0006	0.0012	0.0025	0.0006986	108	154602	rs200641606	0.0009	0.0009	0.0008	0.0010	0.0023	0.0009	0.0008	0.0020	0.0019	0.0001	0.0008	0	0	0	0.0012	0.0009	0.0009	0.0023	0.0008	0.0008	0.0007	0.0008	0.0021	0.0007	0.0006	0.0011	0.0009	0.0002	0	0.0012	0	0	0	0.0034	0.0012	0.0005	0.0021	0.03	0.45393	D	0.029	0.54541	D	0.835	0.46254	P	0.45	0.46092	P	0.000000	0.84330	D	0.000000	0.999992	0.58761	D	2.41	0.69639	M	-2.35	0.88220	D	-2.86	0.60188	D	0.719	0.73555	0.356	0.88432	D	0.672	0.88628	D	10	0.03781724	0.02160	T	0.14273	0.82509	D	0.509	0.78910	0.185	0.09388	0.933037470612	0.93235	0.4215274539480771	0.42068	0.326978781557	0.34837	0.662930965424	0.61828	T	0.761673	0.93549	D	-0.252676	0.13771	T	-0.148958	0.59336	T	0.0780916671038934	0.09741	T	0.954504	0.87759	D	0.349676	0.57042	0.25605518	0.51298	0.349676	0.57042	0.25605518	0.51297	-4.732	0.33789	T	0.2007504194745198	0.26651	0.167	0.45011	B	.;.;.;.;.;.	.;.;.;.;.;.	3.874209	0.56268	23.7	0.99703978305646701	0.80867	0.95648	0.65567	D	AEFGBI	0.803126	0.72835	D	0.318502780478038	0.57097	3.876029	0.322719321125163	0.56878	3.851856	0.139919083158056	0.17253	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.32	4.38	0.52019	1.394000	0.34118	4.453000	0.43430	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.161:0.0:0.839:0.0	10.480	0.43878	614	0.66605	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2351.98	35	chr11	77181571	.	G	C	2351.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.070e-01;DP=976;ExcessHet=0.0000;FS=7.277;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.05;ReadPosRankSum=0.157;SOR=1.134	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1324	20	0	1	0
chr11	77182592	77182592	G	A	exonic	MYO7A	.	nonsynonymous SNV	MYO7A:NM_000260:exon25:c.G3277A:p.E1093K	Deafness, autosomal dominant 11, Autosomal dominant;Deafness, autosomal recessive 2, Autosomal recessive;Usher syndrome, type 1B, Autosomal recessive	.	1	1518	3	0	0	3	0.000987167	.	.	1191282	Usher_syndrome_type_1B|not_provided	MONDO:MONDO:0700087,MedGen:C2931206|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.72	T	0.663	P	0.103	B	0.000	D	1.000	D	1.32	L	-2.1	D	-0.201	T	0.465	T	0.594	2.508	14.35	5.69	2.691	9.428	19.802	0.439	0.206209499737	.	.	3.363e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs782403609	2.739e-05	2.736e-05	1.635e-05	3.854e-05	0.0004	2.064e-05	1.817e-05	0.0003	0.0003	0	0	0	0	0	0.0002	2.698e-06	0	0.0004	1.314e-05	1.313e-05	0	2.689e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.398	0.14843	T	0.707	0.05582	T	0.084	0.24799	B	0.012	0.16012	B	0.000171	0.48594	D	0.176665	1	0.81001	D	0.84	0.21119	L	-2.28	0.87671	D	-1.33	0.33197	N	0.778	0.84713	-0.2005	0.77658	T	0.465	0.79317	T	10	0.2734065	0.44890	T	0.206209	0.87027	D	0.439	0.74306	0.377	0.39156	0.882308312093	0.88115	0.3171606396403138	0.31629	0.22099599647	0.24648	0.734500050545	0.72164	T	0.344133	0.71269	T	-0.102067	0.36082	T	-0.07387	0.65348	T	0.203119197152673	0.20587	T	0.966303	0.92599	D	0.22931762	0.45667	0.24036664	0.49408	0.22931762	0.45667	0.24036664	0.49407	-11.31	0.81331	D	0.12973493276425202	0.13580	0.243	0.47730	B	.;.;.;.;.;.	.;.;.;.;.;.	4.593845	0.72687	25.9	0.99515348615353627	0.68919	0.98792	0.86914	D	AEFBI	0.971389	0.99346	D	0.0447370851796439	0.43901	2.674072	0.190681278856228	0.49335	3.137932	0.999999998879014	0.74766	0.580535	0.33130	0	0.563428	0.19063	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.69	5.69	0.88346	7.708000	0.83603	11.709000	0.94623	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	19.802	0.96512	613	0.66686	MyTH4 domain|MyTH4 domain;MyTH4 domain|MyTH4 domain;.;.;MyTH4 domain|MyTH4 domain;MyTH4 domain|MyTH4 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1602.98	33	chr11	77182592	.	G	A	1602.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=860;ExcessHet=0.0000;FS=0.795;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.98;ReadPosRankSum=-1.482e+00;SOR=0.599	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1547	20	0	1	0
chr11	77211303	77211303	T	G	exonic	MYO7A	.	nonsynonymous SNV	MYO7A:NM_000260:exon45:c.T6203G:p.L2068R	Deafness, autosomal dominant 11, Autosomal dominant;Deafness, autosomal recessive 2, Autosomal recessive;Usher syndrome, type 1B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	361503	not_provided|Usher_syndrome_type_1|Autosomal_recessive_nonsyndromic_hearing_loss_2|Autosomal_dominant_nonsyndromic_hearing_loss_11	MedGen:C3661900|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060,Orphanet:90636|MONDO:MONDO:0011032,MedGen:C1832475,OMIM:601317,Orphanet:90635	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.949	P	0.847	P	0.000	D	1.000	D	2.705	M	-1.3	T	0.475	D	0.661	D	0.758	2.546	14.47	5.15	1.957	2.391	14.986	0.779	0.378130107512	.	.	0.0002	0.0003	0.0007	0	0	0.0001	0	0.0002	4.53e-05	7	154602	rs779090765	3.704e-05	3.967e-05	2.631e-05	4.797e-05	0.0004	2.889e-05	2.62e-05	0.0003	0.0002	0	2.494e-05	0	0	0	0	1.55e-05	8.434e-05	0.0004	1.971e-05	1.97e-05	0	4.035e-05	0.0004	5.24e-06	2.45e-06	7.285e-05	3.027e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.002	0.78490	D	0.006	0.72224	D	0.859	0.47319	P	0.786	0.57542	P	0.000004	0.62929	D	0.063005	0.999998	0.58761	D	2.98	0.85499	M	-1.3	0.79571	T	-5.12	0.83157	D	0.875	0.87265	0.475	0.90196	D	0.661	0.88216	D	10	0.91367644	0.90731	D	0.37813	0.92907	D	0.779	0.92623	0.866	0.96104	0.904170814146	0.90321	0.8902982180859788	0.88999	0.345316706052	0.36442	0.712979793549	0.69025	T	0.805484	0.95083	D	0.00555241	0.52417	T	0.0747468	0.75227	D	0.794468522071838	0.45983	D	0.951905	0.82243	D	0.9686224	0.98131	0.90827304	0.95566	0.9686224	0.98131	0.90827304	0.95566	-4.781	0.34369	T	0.42881635038653776	0.51630	0.314	0.54041	B	.;.;.;.	.;.;.;.	4.127817	0.61742	24.4	0.99598626743914231	0.74042	0.92795	0.56564	D	AEFDGI	0.635527	0.61501	D	0.535229669603304	0.69190	5.321692	0.488639817062882	0.67237	5.057011	0.997967467135757	0.36249	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.15	5.15	0.70287	2.371000	0.43902	7.867000	0.71756	0.665000	0.62972	0.994000	0.38300	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	14.986	0.71003	679	0.60090	FERM central domain|FERM domain|Band 4.1 domain|FERM central domain;.;.;FERM central domain|FERM domain|Band 4.1 domain|FERM central domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1052.98	35	chr11	77211303	.	T	G	1052.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.562e+00;DP=780;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=1.28;SOR=0.752	GT:AD:DP:GQ:PL	0/1:33,42:75:99:1067,0,852	20	0	1	0
chr11	77702384	77702384	T	C	exonic	RSF1	.	nonsynonymous SNV	RSF1:NM_016578:exon6:c.A845G:p.D282G,	.	.	441	1056	21	4	0	29	0.0135451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.001	B	0.001	B	0.046	N	0.999	D	0.895	L	1.4	T	-0.431	T	0.423	T	0.273	2.171	13.22	3.43	0.998	1.681	8.596	0.126	.	0.0012	0.00299521	0.0020	9.968e-05	0.0010	0	0.0002	0.0014	0.0022	0.0079	0.0017788	275	154602	rs149599829	0.0013	0.0013	0.0010	0.0016	0.0254	0.0013	0.0012	0.0220	0.0207	0.0007	0.0005	0.0023	7.565e-05	0.0003	0.0254	0.0008	0.0023	0.0078	0.0012	0.0012	0.0011	0.0013	0.0093	0.0010	0.0010	0.0072	0.0064	0.0002	0	0.0012	0.0023	0	0.0004	0.0340	0.0011	0.0038	0.0093	0.074	0.34621	T	0.145	0.33000	T	0.001	0.07471	B	0.001	0.04355	B	0.046415	0.23442	N	0.370958	0.956621	0.46578	D	1.445	0.36358	L	-2.04	0.86415	D	-2.62	0.63090	D	0.156	0.17140	-0.4306	0.71047	T	0.423	0.76783	T	10	0.0058239996	0.00130	T	.	.	.	0.126	0.34673	.	.	0.388737156453	0.38486	0.06564192176107955	0.06503	0.0250102987337	0.02547	0.317823112011	0.13091	T	0.021387	0.33439	T	-0.34498	0.05051	T	-0.26333	0.48490	T	0.0134633381867005	0.00245	T	0.765923	0.39354	T	0.12443495	0.29197	0.14633854	0.34674	0.12443495	0.29197	0.14633854	0.34673	-4.973	0.36633	T	.	.	0.087	0.18497	B	.;.;.;.	.;.;.;.	2.676665	0.34910	19.76	0.98318563966930406	0.40212	0.91193	0.53043	D	AEFBI	0.412134	0.48233	N	-0.267957841629931	0.30392	1.694271	-0.0931855098408182	0.35671	2.066501	0.0647651325479164	0.15339	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.81	3.43	0.38372	1.231000	0.32226	4.158000	0.42192	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0687:0.1293:0.802	8.596	0.32876	533	0.73433	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2859.11	42	chr11	77702384	.	T	C	2859.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.523e+00;DP=972;ExcessHet=0.1072;FS=1.633;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=0.716;SOR=0.561	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	19	0	2	0
chr11	78017143	78017143	G	A	exonic	KCTD14	.	nonsynonymous SNV	KCTD14:NM_023930:exon2:c.C218T:p.A73V	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.996	D	0.878	P	0.014	N	1.000	D	1.58	L	-1.05	T	0.025	D	0.505	D	0.125	3.107	16.38	3.96	1.241	3.393	14.275	0.292	0.0436240409	7.7e-05	.	5.771e-05	0	8.646e-05	0	0	1.5e-05	0	0.0003	5.17e-05	8	154602	rs376113147	3.762e-05	3.762e-05	1.633e-05	5.913e-05	0.0004	2.96e-05	2.656e-05	0.0003	0.0003	5.974e-05	2.236e-05	0	2.52e-05	1.872e-05	0	1.259e-05	0	0.0004	5.254e-05	5.25e-05	5.141e-05	5.372e-05	0.0004	2.556e-05	1.829e-05	7.301e-05	3.033e-05	7.221e-05	0	0	0	0	0	0	2.94e-05	0.0005	0.0004	0.009	0.57480	D	0.026	0.55759	D	0.996	0.68779	D	0.878	0.62312	P	0.014239	0.28595	N	0.365174	0.999978	0.81001	N	1.69	0.43327	L	-1.05	0.76690	T	-2.97	0.61865	D	0.108	0.32481	0.025	0.82757	D	0.505	0.81353	D	10	0.18477237	0.33867	T	0.043624	0.61079	D	0.292	0.61157	.	.	0.719670081936	0.71720	0.41224190705912317	0.41140	0.595325641885	0.54813	0.27042979002	0.06197	T	0.502009	0.82199	D	-0.321371	0.06786	T	-0.377437	0.36021	T	0.381899744272232	0.28255	T	0.252475	0.05976	T	0.14599954	0.33442	0.16266274	0.37773	0.14599954	0.33442	0.16266274	0.37773	-5.934	0.45724	T	.	.	0.142	0.31125	B	.;.	.;.	2.512513	0.32452	19.05	0.99885617526230286	0.96049	0.64932	0.32569	D	AEFDBCI	0.332377	0.43180	N	0.0377137891733741	0.43580	2.648007	-0.121343577228094	0.34530	1.987321	0.999999933286629	0.74766	0.650006	0.45971	0	0.588066	0.40923	0	0.606735	0.37207	0	0.567892	0.33627	0	.	.	4.89	3.96	0.45097	3.643000	0.54109	1.474000	0.26774	0.676000	0.76740	0.551000	0.27354	0.003000	0.18671	0.018000	0.11154	0.0:0.1498:0.8502:0.0	14.275	0.65726	542	0.72843	Potassium channel tetramerisation-type BTB domain|BTB/POZ domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1526.98	33	chr11	78017143	.	G	A	1526.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.769e+00;DP=821;ExcessHet=0.0000;FS=2.542;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=-1.747e+00;SOR=1.008	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1161	20	0	1	0
chr11	78073127	78073127	G	A	exonic	NDUFC2;NDUFC2-KCTD14	.	nonsynonymous SNV	NDUFC2-KCTD14:NM_001203260:exon2:c.C181T:p.L61F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.981	D	0.91	D	0.002	N	1.000	D	1.87	L	0.52	T	-0.614	T	0.294	T	0.621	2.209	13.34	5.41	2.826	2.370	18.129	0.207	0.0152927396069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.056	0.49390	T	0.981	0.59675	D	0.91	0.64641	D	0.001730	0.38161	N	0.225304	0.997377	0.81001	D	1.24	0.30952	L	0.52	0.55266	T	-1.81	0.45222	N	0.298	0.39861	-0.6135	0.64258	T	0.294	0.66536	T	10	0.3948178	0.55150	T	0.015293	0.35936	T	0.207	0.49555	0.713	0.84872	0.422404719673	0.41854	0.39554031383581617	0.45522	1.60170403797	0.88696	0.471053600311	0.34825	T	0.012824	0.22643	T	0.0064378	0.52540	T	-0.228529	0.51914	T	0.894019484519958	0.54533	D	0.711729	0.32279	T	0.26298738	0.58596	0.3322656	0.59435	0.26298738	0.58596	0.3322656	0.59434	-4.531	0.31292	T	.	.	0.393	0.60035	A	.;.;.;.;.	.;.;.;.;.	2.988644	0.39896	21.1	0.99742894030052776	0.83629	0.83901	0.42992	D	AEFBI	0.434239	0.49537	N	0.535680113664548	0.69216	5.325468	0.504055823415607	0.68263	5.195942	0.99999788602083	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.41	5.41	0.78313	1.816000	0.38630	7.553000	0.60314	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.785000	0.37106	0.0:0.0:1.0:0.0	18.129	0.89525	601	0.67921	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1923	241.89	39	chr11	78073127	.	G	C,A	241.89	.	AC=3,2;AF=0.115,0.077;AN=26;BaseQRankSum=-6.900e-02;DP=670;ExcessHet=1.2264;FS=167.558;InbreedingCoeff=-0.2704;MLEAC=5,3;MLEAF=0.192,0.115;MQ=60.00;MQRankSum=0.00;QD=1.62;ReadPosRankSum=0.524;SOR=9.541	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,3,0:24:38:0|1:78073127_G_C:38,0,687,100,696,796:78073127	8	0	3	8
chr11	78101029	78101029	C	T	exonic	ALG8	.	nonsynonymous SNV	ALG8:NM_024079:exon13:c.G1516A:p.A506T,	Congenital disorder of glycosylation, type Ih	.	0	1508	14	0	0	14	0.00462046	.	.	868843	ALG8_congenital_disorder_of_glycosylation|ALG8-related_disorder	MONDO:MONDO:0011969,MedGen:C2931002,OMIM:608104,Orphanet:79325|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.55	T	0.008	B	0.033	B	0.002	N	1.000	D	1.79	L	-1.74	D	-0.692	T	0.250	T	0.611	1.550	11.14	4.01	1.370	1.295	12.583	0.102	0.0348861890714	0.0003	0.000998403	0.0005	9.625e-05	0.0006	0.0001	0	0.0002	0.0022	0.0019	0.0004398	68	154602	rs149692072	0.0002	0.0002	0.0001	0.0003	0.0028	0.0002	0.0002	0.0017	0.0015	0	0.0005	3.826e-05	2.519e-05	0	0.0028	8.004e-05	0.0003	0.0018	0.0002	0.0002	0.0002	0.0002	0.0027	0.0001	0.0001	0.0016	0.0013	2.406e-05	0	0.0001	0	0	0	0.0034	0.0001	0.0005	0.0027	0.671	0.32929	T	0.293	0.20811	T	0.007	0.14184	B	0.033	0.22329	B	0.002315	0.36806	N	0.300661	0.999298	0.81001	D	1.725	0.44537	L	-1.74	0.83413	D	-0.73	0.29323	N	0.215	0.24010	-0.6916	0.60833	T	0.250	0.61912	T	10	0.02481255	0.00696	T	0.034886	0.55978	D	0.482	0.77206	.	.	0.888515215165	0.88741	0.3929556972325702	0.39210	0.161159105999	0.18189	0.417583346367	0.27505	T	0.156684	0.49896	T	-0.227984	0.16915	T	-0.11349	0.62332	T	0.0133918986548091	0.00242	T	0.842016	0.51794	T	0.068263814	0.14856	0.08404729	0.19305	0.087290436	0.20320	0.08441477	0.19418	-7.074	0.54573	T	0.1575883449238142	0.19039	0.106	0.27910	B	.;.	.;.	2.614910	0.33970	19.49	0.93343155844953485	0.23075	0.87664	0.47279	D	AEFDBCI	0.333900	0.43284	N	0.156583891975323	0.49124	3.116352	0.195561650432476	0.49602	3.161542	0.999998618531933	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.95	4.01	0.45821	1.304000	0.33087	3.303000	0.37399	0.599000	0.40250	0.998000	0.41325	0.999000	0.35428	1.000000	0.97212	0.3254:0.6746:0.0:0.0	12.583	0.55752	617	0.66297	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	937.98	37	chr11	78101029	.	C	T	937.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.288;DP=909;ExcessHet=0.0000;FS=2.604;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.68;ReadPosRankSum=2.20;SOR=0.972	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1620	20	0	1	0
chr11	78200699	78200699	C	T	exonic	USP35	.	nonsynonymous SNV	USP35:NM_020798:exon6:c.C1088T:p.S363L,	.	.	436	1053	32	1	0	34	0.0158879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.422	B	0.041	B	0.000	D	1.000	D	0.55	N	3.37	T	-0.936	T	0.112	T	0.804	2.344	13.79	4.73	2.461	5.484	17.913	0.118	.	0.0042	0.00379393	0.0056	0.0013	0.0011	0	0.0032	0.0059	0.0067	0.0144	0.0054074	836	154602	rs147270370	0.0054	0.0055	0.0051	0.0058	0.0155	0.0053	0.0053	0.0148	0.0145	0.0009	0.0026	0.0087	7.557e-05	0.0031	0.0071	0.0051	0.0066	0.0155	0.0044	0.0044	0.0047	0.0041	0.0124	0.0042	0.0041	0.0099	0.0090	0.0009	0.0263	0.0034	0.0092	0	0.0023	0.0170	0.0064	0.0052	0.0124	0.292	0.28395	T	0.14	0.33554	T	0.422	0.35435	B	0.041	0.23986	B	0.000071	0.52346	D	0.000000	0.992527	0.81001	D	0.205	0.09354	N	-0.24	0.68030	T	-1.35	0.37375	N	0.767	0.76481	-0.9361	0.43226	T	0.112	0.40052	T	10	0.0058319867	0.00130	T	.	.	.	0.118	0.32913	.	.	0.435808882951	0.43200	0.5387993112169235	0.53804	0.0731156517845	0.08196	0.591109752655	0.51651	T	0.021335	0.16634	T	-0.198357	0.21042	T	-0.0453791	0.67336	D	0.0174324986417092	0.00480	T	0.90111	0.65969	D	0.25085986	0.48090	0.14574388	0.34554	0.25085986	0.48090	0.14574388	0.34553	-6.214	0.48036	T	.	.	0.214	0.59016	B	.;.;.	.;.;.	3.423610	0.47552	22.5	0.98669950564986297	0.44456	0.97537	0.75396	D	AEFDGBI	0.403434	0.47712	N	-0.00792238119281392	0.41496	2.483102	0.159738799392151	0.47660	2.99292	0.999999721442655	0.74766	0.646311	0.45356	0	0.593476	0.48661	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.73	4.73	0.59485	3.791000	0.55173	7.353000	0.58305	0.599000	0.40250	0.992000	0.37556	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.913	0.88860	615	0.66512	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1741.11	35	chr11	78200699	.	C	T	1741.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.41;DP=835;ExcessHet=0.1072;FS=2.002;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=-5.410e-01;SOR=0.888	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1073	19	0	2	0
chr11	78209636	78209636	C	T	exonic	USP35	.	nonsynonymous SNV	USP35:NM_020798:exon10:c.C1781T:p.T594M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	1.0	D	0.000	D	1.000	D	0.365	N	3.44	T	-0.994	T	0.032	T	0.73	3.939	20.1	4.68	2.424	7.648	17.801	0.343	0.0287823081126	.	.	0.0003	0	0	0	0	0.0001	0.0011	0.0015	0.0002329	36	154602	rs769630717	0.0002	0.0002	8.984e-05	0.0002	0.0018	0.0001	0.0001	0.0015	0.0015	2.987e-05	0	0	0	0	0.0003	5.306e-05	0.0002	0.0018	8.54e-05	8.532e-05	8.998e-05	8.061e-05	0.0012	4.956e-05	3.962e-05	0.0005	0.0004	2.406e-05	0	0	0	0	0	0	8.827e-05	0	0.0012	0.062	0.78490	T	0.068	0.53426	T	1.0	0.90584	D	1.0	0.97372	D	0.000008	0.62929	D	0.000000	0.999981	0.58761	D	0.935	0.23595	L	3.44	0.05375	T	-3.39	0.67241	D	0.759	0.80669	-0.9937	0.31643	T	0.032	0.13723	T	10	0.15129617	0.28601	T	0.028782	0.51400	D	0.343	0.66488	.	.	0.237489013734	0.23353	0.4805198251530313	0.47971	0.0848486221494	0.09587	0.705834507942	0.67989	T	0.024438	0.18465	T	-0.272881	0.11438	T	-0.177981	0.56708	T	0.142700085373862	0.16505	T	0.970503	0.95244	D	0.6596823	0.75882	0.4414503	0.67429	0.6596823	0.75883	0.4414503	0.67429	-8.234	0.62654	D	.	.	0.502	0.64672	A	.;.;.	.;.;.	4.272595	0.65018	24.8	0.99627311879662028	0.75837	0.99320	0.94451	D	AEFBI	0.876743	0.80093	D	0.56016342013135	0.70704	5.540642	0.586686086769479	0.73985	6.060717	0.999999999994603	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	4.68	4.68	0.58319	7.903000	0.86133	4.600000	0.43993	0.547000	0.25779	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.801	0.88496	617	0.66297	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1612.98	81	chr11	78209636	.	C	T	1612.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.092;DP=978;ExcessHet=0.0000;FS=4.278;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=-5.860e-01;SOR=1.077	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1307	20	0	1	0
chr11	78226554	78226554	G	A	exonic	GAB2	.	nonsynonymous SNV	GAB2:NM_012296:exon4:c.C1004T:p.P335L	.	.	431	1085	6	0	0	6	0.00275735	.	.	3439539	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	0.892	P	0.198	B	0.036	U	1.000	D	0.27	N	1.89	T	-1.113	T	0.029	T	0.186	2.541	14.46	5.21	2.598	5.225	8.509	0.063	0.00630915363773	.	.	4.12e-05	0.0002	0	0	0	2.999e-05	0.0011	0	3.23e-05	5	154602	rs372231541	7.8e-05	7.798e-05	7.489e-05	8.115e-05	0.0005	6.601e-05	6.143e-05	0.0001	8.677e-05	0.0002	0	0.0001	0	0	0.0005	6.207e-05	0.0003	0.0002	0.0001	0.0001	0.0002	9.519e-05	0.0006	8.759e-05	7.333e-05	0.0002	9.223e-05	0.0002	0	0	0	0.0002	0	0	0.0001	0	0.0006	0.081	0.36912	T	0.106	0.37872	T	0.892	0.49086	P	0.198	0.36766	B	0.035907	0.24587	U	0.372415	0.999985	0.54805	D	1.245	0.31408	L	1.89	0.23688	T	-2.37	0.52289	N	0.248	0.28028	-1.1130	0.02824	T	0.029	0.12409	T	10	0.14926028	0.28250	T	0.006309	0.16580	T	0.063	0.18251	.	.	0.377839696382	0.37399	0.28096351686661153	0.28009	0.0530438299189	0.05851	0.514647245407	0.40874	T	0.460286	0.79753	T	-0.389402	0.02714	T	-0.500933	0.22251	T	0.0966180397718323	0.11981	T	0.866813	0.56740	D	0.042182	0.06351	0.057588156	0.10494	0.042182	0.06351	0.057588156	0.10493	-3.034	0.10552	T	.	.	0.078	0.06849	B	.;.	.;.	3.435876	0.47770	22.5	0.99620183514173588	0.75353	0.95243	0.63969	D	AEFBI	0.397258	0.47340	N	0.236986209343528	0.52999	3.470893	0.355984781685349	0.58868	4.060276	0.999995388541399	0.74766	0.706548	0.73137	0	0.596877	0.49441	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.21	5.21	0.72005	5.295000	0.65488	8.633000	0.77861	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0771:0.0:0.7695:0.1534	8.509	0.32367	635	0.64580	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	605.98	35	chr11	78226554	.	G	A	605.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.570e-01;DP=767;ExcessHet=0.0000;FS=2.097;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.04;ReadPosRankSum=-1.873e+00;SOR=0.426	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr11	78478659	78478659	T	C	exonic	NARS2	.	nonsynonymous SNV	NARS2:NM_001243251:exon8:c.A166G:p.T56A	Combined oxidative phosphorylation deficiency 24, Autosomal recessive	.	429	1091	2	0	0	2	0.000915751	.	.	1017531	not_provided|Inborn_genetic_diseases|Combined_oxidative_phosphorylation_defect_type_24	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014547,MedGen:C4015643,OMIM:616239,Orphanet:444458	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.23	T	0.001	B	0.004	B	0.004	N	1.000	N	0.04	N	-1.18	T	-0.997	T	0.162	T	0.116	0.774	8.091	-0.179	-0.110	-0.061	4.066	0.104	0.0076364337769	.	0.000199681	7.434e-05	0.0002	0.0002	0	0	7.508e-05	0	0	7.12e-05	11	154602	rs549442380	7.127e-05	7.251e-05	7.639e-05	6.611e-05	0.0026	5.991e-05	5.598e-05	0.0016	0.0013	0.0007	0.0004	0	0	0	0.0026	3.062e-05	0.0002	1.162e-05	9.849e-05	9.843e-05	8.994e-05	0.0001	0.0004	6.002e-05	4.876e-05	0.0002	0.0001	9.621e-05	0	0.0004	0	0	0	0.0068	2.94e-05	0.0005	0	0.224	0.20456	T	0.123	0.35970	T	0.001	0.07471	B	0.004	0.10090	B	0.004445	0.33730	N	0.365752	1	0.08975	N	0.105	0.08473	N	-1.18	0.78314	T	-0.73	0.20576	N	0.127	0.14338	-0.9967	0.30838	T	0.162	0.49748	T	10	0.059057087	0.07041	T	0.007636	0.20272	T	0.104	0.29647	0.472	0.54699	0.573952904867	0.57062	0.3578460179662975	0.35698	0.0451981001597	0.04896	0.333922684193	0.15525	T	0.322036	0.69308	T	-0.387643	0.02786	T	-0.472632	0.25232	T	0.0144072035327554	0.00290	T	0.70293	0.31283	T	0.055911887	0.10929	0.040063165	0.04243	0.055911887	0.10928	0.040063165	0.04243	-4.338	0.28706	T	0.12112190150960378	0.11462	0.087	0.11366	B	.;.	.;.	0.402204	0.07734	4.414	0.884172053392282	0.17960	0.01300	0.04516	N	AEFBI	0.049038	0.08432	N	-0.984353019853723	0.08937	0.4210054	-0.940499798928317	0.11144	0.5659441	0.00158615547147171	0.08668	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.25	-0.179	0.12647	0.048000	0.13962	-0.496000	0.08830	0.665000	0.62972	0.002000	0.15269	0.000000	0.08366	0.959000	0.51448	0.155:0.1839:0.0:0.6611	4.066	0.09336	677	0.60274	Aminoacyl-tRNA synthetase, class II (D/K/N)|Aminoacyl-tRNA synthetase, class II;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1112.98	35	chr11	78478659	.	T	C	1112.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.025e+00;DP=798;ExcessHet=0.0000;FS=0.753;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=-8.870e-01;SOR=0.606	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,982	20	0	1	0
chr11	78658455	78658455	C	T	exonic	TENM4	.	nonsynonymous SNV	TENM4:NM_001098816:exon34:c.G7913A:p.R2638Q,	Tremor, hereditary essential, 5, Autosomal dominant	.	410	1100	12	0	0	12	0.00542495	.	.	713201	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.056	B	0.002	B	0.005	N	0.670	N	0.565	N	-2.56	D	-0.702	T	0.201	T	0.039	2.091	12.95	1.79	0.189	1.604	10.344	0.210	.	0.0090	0.00838658	0.0025	0.0270	0.0011	0	0	4.503e-05	0.0045	0.0007	0.0023027	356	154602	rs114100394	0.0009	0.0009	0.0010	0.0008	0.0284	0.0008	0.0008	0.0269	0.0263	0.0284	0.0015	0	2.519e-05	0	0.0017	5.576e-05	0.0019	0.0009	0.0080	0.0080	0.0084	0.0076	0.0276	0.0076	0.0074	0.0262	0.0257	0.0276	0	0.0026	0	0	0	0	4.41e-05	0.0071	0.0021	0.154	0.24277	T	0.263	0.22828	T	0.056	0.22806	B	0.002	0.06944	B	0.004591	0.33588	N	0.278896	0.669511	0.30377	N	1.295	0.32453	L	-2.56	0.89627	D	-2.21	0.49684	N	0.07	0.04307	-0.7017	0.60357	T	0.201	0.55808	T	9	0.0059633255	0.00134	T	.	.	.	0.210	0.50028	.	.	0.171220215726	0.16700	0.5295324240796673	0.52877	0.321092760271	0.34309	0.299288809299	0.10294	T	0.141502	0.47659	T	-0.467294	0.00884	T	-0.423062	0.30724	T	0.0128188771572929	0.00218	T	0.919108	0.70849	D	0.08047666	0.18442	0.09065464	0.21270	0.07546693	0.17005	0.078033574	0.17441	-4.002	0.23834	T	0.15004466785233314	0.17594	0.071	0.04041	B	.	.	2.462151	0.31724	18.83	0.98517297516095348	0.42422	0.80198	0.39900	D	AEFDBI	0.259949	0.37819	N	-0.533603068262594	0.21001	1.111298	-0.364913360588209	0.26051	1.436527	0.0326965178305814	0.14067	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.65	1.79	0.23992	1.772000	0.38182	1.735000	0.28356	-0.191000	0.09375	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:0.7456:0.0:0.2544	10.344	0.43077	880	0.29376	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2230.98	35	chr11	78658455	.	C	T	2230.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=885;ExcessHet=0.0000;FS=7.299;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.12;ReadPosRankSum=0.518;SOR=1.001	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1234	20	0	1	0
chr11	78708489	78708489	T	C	exonic	TENM4	.	nonsynonymous SNV	TENM4:NM_001098816:exon27:c.A4081G:p.I1361V,	Tremor, hereditary essential, 5, Autosomal dominant	.	426	1080	15	1	0	17	0.00780891	.	.	724760	TENM4-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.913	P	0.891	P	0.000	D	1.000	D	0.95	L	-2.67	D	0.428	D	0.725	D	0.505	4.329	22.7	5.52	2.320	6.112	15.811	0.481	.	0.0008	0.00199681	0.0023	0.0002	0.0006	0.0002	0.0002	0.0008	0.0012	0.0132	0.0019857	307	154602	rs200821670	0.0013	0.0013	0.0009	0.0018	0.0130	0.0013	0.0013	0.0124	0.0121	0.0001	0.0004	0.0030	5.038e-05	3.745e-05	0.0045	0.0005	0.0015	0.0130	0.0009	0.0009	0.0007	0.0011	0.0127	0.0008	0.0007	0.0101	0.0092	7.215e-05	0	0.0003	0.0052	0	0	0.0068	0.0007	0.0005	0.0127	0.17	0.22833	T	0.142	0.33330	T	0.913	0.50474	P	0.891	0.63213	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	0.935	0.23595	L	-2.67	0.90332	D	-0.72	0.20358	N	0.354	0.39558	0.428	0.89514	D	0.725	0.90590	D	9	0.011501104	0.00251	T	.	.	.	0.481	0.77142	.	.	0.323442020237	0.31956	0.3995742354190841	0.39872	0.294285333989	0.31851	0.615581035614	0.55104	T	0.112932	0.42958	T	-0.23194	0.16392	T	-0.0949118	0.63789	T	0.0598651018056591	0.07147	T	0.888511	0.61827	D	0.12055117	0.28363	0.15244803	0.35867	0.12055117	0.28363	0.15244803	0.35866	-5.775	0.44356	T	0.11152381363218447	0.09546	0.075	0.05535	B	.	.	3.801113	0.54768	23.5	0.99896844721841027	0.96971	0.96640	0.70161	D	AEFDGBIJ	0.754221	0.69417	D	0.497766097494585	0.66960	5.018224	0.537977490225704	0.70564	5.523974	0.999999999994788	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.550215	0.18615	0	0.564101	0.26826	0	.	.	5.52	5.52	0.82153	6.255000	0.72423	6.215000	0.55059	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:0.0:0.0:1.0	15.811	0.78336	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	925.98	35	chr11	78708489	.	T	C	925.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.288e+00;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.85;ReadPosRankSum=0.828;SOR=0.703	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	20	0	1	0
chr11	78756813	78756813	A	C	exonic	TENM4	.	nonsynonymous SNV	TENM4:NM_001098816:exon19:c.T2748G:p.F916L,	Tremor, hereditary essential, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3482314	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.039	B	0.01	B	0.000	D	1.000	D	2.525	M	-3.06	D	-0.075	T	0.676	D	0.84	3.389	17.43	0.273	0.117	0.256	9.384	0.622	0.142254675707	8.3e-05	0.000399361	5.835e-05	0.0007	0	0	0	0	0	0	5.17e-05	8	154602	rs183776911	4.518e-05	4.515e-05	5.039e-05	3.991e-05	0.0015	3.643e-05	3.323e-05	0.0012	0.0011	0.0015	0	0	0	0	0.0003	8.996e-07	0.0002	2.327e-05	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0005	0.0005	0.0007	0	6.538e-05	0	0	0	0	0	0	0	0.001	0.78490	D	0.005	0.72224	D	0.039	0.21116	B	0.01	0.14941	B	0.000000	0.84330	D	0.000000	0.999517	0.47363	D	2.14	0.59869	M	-3.06	0.92457	D	-5.43	0.85323	D	0.884	0.88246	-0.0747	0.80671	T	0.676	0.88800	D	9	0.7290583	0.74172	D	0.142255	0.82464	D	0.622	0.85354	0.468	0.54052	0.944386727223	0.94380	0.7891755978481161	0.78869	0.570358854631	0.53195	0.822402477264	0.85397	D	0.673951	0.90353	D	0.0395169	0.56981	T	0.227639	0.84554	D	0.567621469497681	0.35144	D	0.863414	0.55914	D	0.7644852	0.81719	0.6697461	0.80625	0.7644852	0.81720	0.6697461	0.80626	-9.503	0.70878	D	0.5763938631419465	0.64335	0.932	0.85150	P	.	.	2.402782	0.30868	18.57	0.99311775266415336	0.59017	0.85565	0.44711	D	AEFDBI	0.431855	0.49397	N	-0.308277837973537	0.28832	1.593676	-0.24918975237944	0.29799	1.672495	0.0170636953781218	0.12908	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.17	0.273	0.14903	0.085000	0.14759	0.214000	0.15995	0.756000	0.94297	0.828000	0.30104	0.309000	0.24262	0.997000	0.79791	0.4733:0.0:0.5267:0.0	9.384	0.37496	918	0.19598	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1441.98	36	chr11	78756813	.	A	C	1441.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.590e+00;DP=826;ExcessHet=0.0000;FS=0.658;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.84;ReadPosRankSum=-4.520e-01;SOR=0.796	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1284	20	0	1	0
chr11	78756962	78756962	G	T	exonic	TENM4	.	nonsynonymous SNV	TENM4:NM_001098816:exon19:c.C2599A:p.P867T,	Tremor, hereditary essential, 5, Autosomal dominant	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	B	0.004	B	0.005	N	1.000	N	1.295	L	2.91	T	-0.997	T	0.019	T	0.112	0.008	4.058	2.26	0.798	0.367	5.101	0.025	0.00481888179513	0.0002	0.000199681	6.68e-05	0.0001	0.0003	0	0	6.03e-05	0	0	7.12e-05	11	154602	rs376224501	6.157e-05	6.156e-05	5.718e-05	6.601e-05	0.0009	5.095e-05	4.716e-05	0.0003	0.0002	0.0002	0.0002	0	0	0	0.0009	4.947e-05	0.0002	0	9.191e-05	9.186e-05	0.0001	8.055e-05	0.0001	5.523e-05	4.361e-05	4.765e-05	3.339e-05	7.215e-05	0	0.0001	0	0	0	0	0.0001	0.0009	0	0.771	0.03373	T	0.824	0.03783	T	0.005	0.12996	B	0.004	0.10090	B	0.004719	0.33466	N	0.294558	0.999982	0.18198	N	0.66	0.16226	N	2.91	0.10008	T	-3.37	0.66665	D	0.11	0.09631	-0.9968	0.30810	T	0.019	0.07939	T	9	0.063393295	0.08250	T	0.004819	0.12066	T	0.025	0.05312	.	.	0.043077524339	0.03247	0.40409660182373114	0.40325	0.311149175292	0.33418	0.301138162613	0.10570	T	0.586011	0.86516	D	-0.541335	0.00329	T	-0.713645	0.05109	T	0.0195494073521937	0.00658	T	0.862414	0.55771	D	0.07575738	0.17089	0.1096401	0.26427	0.07575738	0.17089	0.1096401	0.26426	-4.33	0.28596	T	0.17650480380946654	0.22526	0.075	0.05491	B	.	.	0.812004	0.11827	8.399	0.61675319822948149	0.06769	0.56306	0.30083	D	AEFBI	0.092932	0.18809	N	-0.400945783145214	0.25436	1.380768	-0.290802616845485	0.28399	1.583268	0.00419256919098191	0.10453	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.26	2.26	0.27418	0.297000	0.18856	1.349000	0.25794	-0.108000	0.15293	0.599000	0.27739	0.870000	0.27582	0.471000	0.28363	0.3421:0.2042:0.4537:0.0	5.101	0.14091	918	0.19598	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1255.98	36	chr11	78756962	.	G	T	1255.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=785;ExcessHet=0.0000;FS=0.800;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=-5.570e-01;SOR=0.868	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1284	20	0	1	0
chr11	78903332	78903332	C	T	exonic	TENM4	.	nonsynonymous SNV	TENM4:NM_001098816:exon7:c.G685A:p.A229T,	Tremor, hereditary essential, 5, Autosomal dominant	.	409	1112	1	0	0	1	0.000449438	.	.	724764	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.003	B	0.002	B	0.746	N	0.516	D	-0.505	N	-2.3	D	-0.699	T	0.167	T	0.023	-1.062	0.181	2.36	1.287	1.734	5.094	0.149	.	.	0.0071885	0.0041	0.0312	0	0	0	0.0007	0.0288	0	0.0006727	104	154602	rs182302962	0.0007	0.0007	0.0007	0.0006	0.0246	0.0006	0.0006	0.0230	0.0224	0.0246	0.0017	0.0010	0.0002	0	0.0024	5.914e-05	0.0017	8.652e-05	0.0068	0.0068	0.0066	0.0070	0.0230	0.0065	0.0063	0.0218	0.0213	0.0230	0	0.0031	0.0006	0	0	0.0102	0.0002	0.0071	0	1.0	0.04328	T	1.0	0.25135	T	0.003	0.11197	B	0.002	0.06944	B	0.745860	0.09739	N	0.860751	0.515522	0.31854	D	-1.725	0.00339	N	-2.3	0.87671	D	1.13	0.01182	N	0.059	0.03069	-0.6990	0.60486	T	0.167	0.50551	T	9	0.0031675994	0.00053	T	.	.	.	0.149	0.39377	.	.	0.043077524339	0.03247	0.16419478434188212	0.16339	0.272612617038	0.29765	0.409675121307	0.26411	T	0.034089	0.23181	T	-0.529755	0.00385	T	-0.510048	0.21310	T	0.00187057954964932	0.00019	T	0.664234	0.27311	T	0.024961187	0.01382	0.05387211	0.09157	0.028275378	0.02139	0.051928576	0.08453	-3.847	0.21508	T	0.11969573430296435	0.11179	0.063	0.01408	B	.;.	.;.	1.294739	0.16958	12.87	0.73853776238077307	0.10479	0.54359	0.29596	D	AEFDBHCI	0.087029	0.17646	N	-0.682531226724316	0.16520	0.842386	-0.551798761082992	0.20758	1.119869	0.997687674154823	0.35903	0.533608	0.22052	0	0.615948	0.52940	0	0.685742	0.62368	0	0.584449	0.35598	0	.	.	5.42	2.36	0.28258	1.769000	0.38152	0.884000	0.22419	-0.194000	0.09177	0.999000	0.42656	0.025000	0.21018	0.369000	0.26088	0.0:0.5447:0.1861:0.2692	5.094	0.14056	939	0.14249	Teneurin intracellular, N-terminal|Teneurin intracellular, N-terminal;Teneurin intracellular, N-terminal|Teneurin intracellular, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1064.98	33	chr11	78903332	.	C	T	1064.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.106e+00;DP=791;ExcessHet=0.0000;FS=2.644;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.98;ReadPosRankSum=-1.234e+00;SOR=0.455	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1229	20	0	1	0
chr11	82732913	82732913	C	T	exonic	FAM181B	.	nonsynonymous SNV	FAM181B:NM_175885:exon1:c.G817A:p.G273S,	.	.	408	1086	27	1	0	29	0.0131758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	B	0.017	B	0.046	N	0.996	N	0.145	N	1.63	T	-1.018	T	0.022	T	0.128	0.326	5.765	1.11	0.354	0.569	6.319	0.014	.	0.0031	0.00399361	0.0157	0.0041	0.0227	0	0.0078	0.0246	0.0143	0.0102	0.0034734	537	154602	rs142346160	0.0052	0.0052	0.0051	0.0054	0.0095	0.0051	0.0051	0.0075	0.0068	0.0006	0.0029	0.0144	2.773e-05	0.0071	0.0095	0.0052	0.0050	0.0075	0.0041	0.0041	0.0042	0.0041	0.0075	0.0038	0.0037	0.0055	0.0049	0.0007	0.0022	0.0027	0.0158	0	0.0074	0.0136	0.0055	0.0047	0.0075	0.151	0.24564	T	0.328	0.18675	T	0.093	0.25333	B	0.017	0.18140	B	0.045942	0.23486	N	0.414096	0.995739	0.23214	N	0.2	0.09183	N	1.63	0.28002	T	-0.21	0.10308	N	0.072	0.04547	-1.0179	0.24398	T	0.022	0.09284	T	9	0.003020376	0.00049	T	.	.	.	0.014	0.01968	.	.	0.0138822411134	0.00435	0.09454608370646181	0.09386	0.798905593079	0.66152	0.801437079906	0.82182	T	0.001729	0.01158	T	-0.617847	0.00113	T	-0.656405	0.08510	T	0.00480462648573201	0.00052	T	0.549145	0.18877	T	0.045748696	0.07541	0.074790746	0.16396	0.045748696	0.07541	0.074790746	0.16396	-4.421	0.29840	T	.	.	0.089	0.11989	B	.	.	1.381611	0.17928	13.45	0.96065594642874486	0.28605	0.61719	0.31567	D	AEFDBCI	0.085348	0.17302	N	-0.88983826427581	0.11083	0.5329738	-0.809113044060558	0.14275	0.7450502	0.79638522059897	0.24107	0.59774	0.34471	0	0.596491	0.49125	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.59	1.11	0.19640	0.312000	0.19147	0.461000	0.18618	-0.369000	0.05453	0.998000	0.41325	0.803000	0.26967	0.639000	0.32395	0.1388:0.6167:0.0:0.2445	6.319	0.20413	588	0.69043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	730.98	43	chr11	82732913	.	C	T	730.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.87;DP=896;ExcessHet=0.0000;FS=3.850;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=-4.900e-02;SOR=1.402	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1123	20	0	1	0
chr11	82931910	82931910	G	A	exonic	DDIAS	.	nonsynonymous SNV	DDIAS:NM_001363481:exon5:c.G572A:p.R191K	.	.	434	1066	18	4	0	26	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	B	0.01	B	0.082	N	1.000	N	1.59	L	2.49	T	-1.008	T	0.024	T	0.109	0.505	6.736	-1.55	-0.501	0.116	5.350	0.021	.	0.0019	0.00439297	0.0031	0.0002	0.0010	0	0.0002	0.0020	0.0022	0.0139	0.0028654	443	154602	rs143776868	0.0023	0.0023	0.0019	0.0027	0.0143	0.0022	0.0022	0.0136	0.0133	0.0002	0.0014	0.0010	5.038e-05	0.0010	0.0029	0.0016	0.0024	0.0143	0.0017	0.0017	0.0014	0.0020	0.0139	0.0015	0.0014	0.0112	0.0103	0.0002	0	0.0017	0.0014	0.0002	0.0008	0.0136	0.0019	0.0014	0.0139	0.291	0.14945	T	0.296	0.20615	T	0.051	0.22415	B	0.01	0.14941	B	0.081662	0.20852	N	0.521773	1	0.19072	N	.	.	.	2.49	0.14531	T	-0.91	0.24460	N	0.075	0.04913	-1.0082	0.27479	T	0.024	0.10148	T	9	0.0038969219	0.00074	T	.	.	.	0.021	0.04004	.	.	0.0762999501168	0.06990	0.09629855801019349	0.09561	0.0389555431681	0.04147	.	.	.	0.063198	0.32114	T	-0.630402	0.00095	T	-0.684781	0.06696	T	0.00185487795829065	0.00019	T	0.341266	0.07400	T	0.03574267	0.04264	0.045065105	0.05982	0.03574267	0.04264	0.045065105	0.05981	-2.621	0.06664	T	.	.	0.098	0.18580	B	.;.	.;.	0.781434	0.11518	8.115	0.79226924549518085	0.12647	0.08489	0.14411	N	AEFBI	0.077336	0.15579	N	-0.857207152831639	0.11873	0.5754471	-0.903660520719352	0.12007	0.6151954	0.128260463694081	0.17036	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.15	-1.55	0.08105	0.132000	0.15716	0.646000	0.20366	0.676000	0.76740	0.029000	0.20367	0.839000	0.27283	0.989000	0.64315	0.3495:0.0:0.5265:0.124	5.350	0.15334	590	0.68897	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2710.11	42	chr11	82931910	.	G	A	2710.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.57;DP=934;ExcessHet=0.1072;FS=1.504;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.30;ReadPosRankSum=-2.410e-01;SOR=0.616	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	19	0	2	0
chr11	83169690	83169690	C	T	exonic	PCF11	.	nonsynonymous SNV	PCF11:NM_001346413:exon8:c.C3748T:p.H1250Y	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.981	D	0.954	D	0.000	D	1.000	D	1.39	L	1.8	T	-1.136	T	0.098	T	0.732	3.496	17.87	6.06	2.882	3.996	20.621	0.270	0.0111393070296	0.0039	0.000998403	0.0029	0.0011	0.0015	0	0.0011	0.0047	0	0	0.0031371	485	154602	rs17513642	0.0046	0.0046	0.0047	0.0045	0.0056	0.0045	0.0045	0.0055	0.0055	0.0007	0.0014	0.0023	2.519e-05	0.0015	0.0010	0.0056	0.0033	0.0001	0.0035	0.0035	0.0037	0.0032	0.0059	0.0032	0.0031	0.0054	0.0052	0.0010	0.0307	0.0020	0.0014	0	0.0017	0	0.0059	0.0014	0	0.247	0.17296	T	0.881	0.03214	T	0.981	0.59675	D	0.954	0.69447	D	0.000009	0.62929	D	0.000000	0.999518	0.47363	D	1.735	0.44892	L	1.8	0.25344	T	-1.15	0.29525	N	0.494	0.52740	-1.1363	0.01503	T	0.098	0.36754	T	9	0.009848684	0.00221	T	0.011139	0.28456	T	0.270	0.58507	.	.	0.49019323153	0.48651	0.4128032144238476	0.41196	0.449813838055	0.44759	0.547688126564	0.45532	T	0.025925	0.19289	T	-0.299473	0.08709	T	-0.197681	0.54865	T	0.0250292376543305	0.01277	T	0.79872	0.44372	T	0.09479777	0.22296	0.13963799	0.33310	0.09479777	0.22296	0.13963799	0.33309	-5.637	0.43129	T	.	.	0.134	0.28948	B	.	.	4.321820	0.66145	24.9	0.99722037100826133	0.82125	0.93705	0.58956	D	AEFGBHCI	0.504706	0.53616	D	0.648478285139463	0.76269	6.455631	0.6870485835556	0.81396	7.516592	0.999999999999978	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	6.06	6.06	0.98340	3.324000	0.51734	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.621	0.99492	366	0.84579	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3527.98	34	chr11	83169690	.	C	T	3527.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.210e-01;DP=996;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=-1.340e+00;SOR=0.710	GT:AD:DP:GQ:PL	0/1:147,132:279:99:3542,0,3901	20	0	1	0
chr11	83224944	83224944	A	G	exonic	ANKRD42	.	nonsynonymous SNV	ANKRD42:NM_001300972:exon6:c.A676G:p.N226D	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.962	D	0.000	D	1.000	D	0.83	L	2.52	T	-1.118	T	0.041	T	0.447	4.485	24.0	5.67	2.154	6.289	14.897	0.099	0.0118667640058	0.0045	0.000798722	0.0031	0.0011	0.0015	0	0.0012	0.0051	0	0.0002	0.0033311	515	154602	rs17515016	0.0051	0.0051	0.0052	0.0049	0.0062	0.0050	0.0049	0.0061	0.0060	0.0008	0.0014	0.0025	2.52e-05	0.0019	0.0007	0.0062	0.0039	0.0002	0.0036	0.0036	0.0040	0.0032	0.0061	0.0033	0.0032	0.0057	0.0055	0.0009	0.0307	0.0021	0.0017	0	0.0018	0	0.0061	0.0024	0.0002	0.087	0.91255	T	0.239	0.24477	T	0.984	0.90584	D	0.867	0.70672	P	0.000004	0.62929	D	0.000000	0.989834	0.41032	D	2.81	0.81869	M	2.52	0.14160	T	-3.37	0.68764	D	0.676	0.72120	-1.1176	0.02489	T	0.041	0.17742	T	9	0.010637909	0.00236	T	0.011867	0.29919	T	0.099	0.28413	.	.	0.632527967172	0.62951	0.4383039340567956	0.43747	0.636100026139	0.57402	0.607238888741	0.53925	T	0.079479	0.36137	T	-0.389856	0.02697	T	-0.327087	0.41791	T	0.0118619052542774	0.00185	T	0.869313	0.57326	D	0.53065664	0.68868	0.48457134	0.70164	0.53065664	0.68869	0.48457134	0.70164	-6.599	0.51045	T	.	.	0.548	0.76897	A	.;.;.;.	.;.;.;.	4.797909	0.77929	26.8	0.99809469920519844	0.89353	0.94858	0.62574	D	AEFI	0.620315	0.60542	D	0.462297344401442	0.64904	4.755791	0.535399049698497	0.70388	5.497943	0.520722880965749	0.21094	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.67	5.67	0.87673	6.733000	0.74600	10.976000	0.84567	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.897	0.70291	562	0.71143	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	525.98	33	chr11	83224944	.	A	G	525.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.810e-01;DP=721;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=-6.650e-01;SOR=0.663	GT:AD:DP:GQ:PL	0/1:18,25:43:99:540,0,398	20	0	1	0
chr11	83225048	83225048	T	A	exonic	ANKRD42	.	nonsynonymous SNV	ANKRD42:NM_001300972:exon6:c.T780A:p.D260E	.	.	442	1074	5	1	0	7	0.00324826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	B	0.057	B	0.006	N	1.000	N	1.155	L	2.41	T	-1.036	T	0.029	T	0.193	0.517	6.802	5.23	1.959	0.652	6.294	0.037	0.00747496267257	7.7e-05	.	0.0002	0	0	0	0	3.026e-05	0.0022	0.0013	0.0001746	27	154602	rs143071836	0.0001	0.0001	7.911e-05	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	0	6.725e-05	7.669e-05	0	0	0.0010	2.702e-05	0.0001	0.0018	5.918e-05	5.908e-05	2.572e-05	9.418e-05	0.0012	3.079e-05	2.212e-05	0.0005	0.0004	0	0	0.0001	0	0	0	0	1.47e-05	0	0.0012	0.308	0.17643	T	0.943	0.09931	T	0.081	0.24602	B	0.017	0.18140	B	0.005829	0.32475	N	0.218284	0.969756	0.25738	N	1.79	0.46772	L	2.41	0.15492	T	-1.42	0.34992	N	0.094	0.10198	-1.0363	0.18450	T	0.029	0.12541	T	9	0.027549297	0.00899	T	0.007475	0.19819	T	0.037	0.09474	0.364	0.37036	0.472982741448	0.46926	0.07182555690820777	0.07119	0.127038506119	0.14318	0.331278532743	0.15128	T	0.01914	0.15304	T	-0.554011	0.00276	T	-0.598654	0.12925	T	0.0255836470005992	0.01350	T	0.550145	0.18957	T	0.07057652	0.15557	0.04573222	0.06218	0.07057652	0.15556	0.04573222	0.06217	-7.616	0.58422	D	.	.	0.091	0.18456	B	.;.;.;.	.;.;.;.	1.339068	0.17456	13.17	0.78018407278316571	0.12121	0.62655	0.31847	D	AEFI	0.088496	0.17940	N	-0.25156253415284	0.31042	1.736679	-0.11197521751383	0.34907	2.013271	4.57068096603988E-4	0.07036	0.638212	0.43195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.23	5.23	0.72570	0.355000	0.19902	0.401000	0.18000	0.665000	0.62972	0.998000	0.41325	0.999000	0.35428	0.758000	0.36073	0.1569:0.0:0.1632:0.6799	6.294	0.20283	562	0.71143	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1520.11	33	chr11	83225048	.	T	A	1520.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.809;DP=782;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.08;ReadPosRankSum=1.05;SOR=0.703	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	19	0	2	0
chr11	83248140	83248140	G	A	exonic	ANKRD42	.	stopgain	ANKRD42:NM_001300975:exon11:c.G1520A:p.W507X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.544	D	.	.	.	.	.	.	.	.	.	2.924	15.74	-1.55	-0.421	0.062	8.771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.192e-07	6.841e-07	0	1.458e-06	1.263e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.263e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.544012	0.32078	D	.	.	.	.	.	.	.	.	.	0.014	0.00160	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.458584	0.01003	T	-0.896501	0.00527	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	4.592217	0.72647	25.9	0.52339997504814362	0.04729	0.00196	0.01131	N	AEFI	0.013152	0.00165	N	-0.985733002631149	0.08908	0.4194918	-1.15056199937401	0.06758	0.3263796	1.25975208303968E-4	0.05386	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.52	-1.55	0.08105	0.104000	0.15148	0.809000	0.21733	-0.733000	0.03713	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.6898:0.0:0.3102:0.0	8.771	0.33892	561	0.71236	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	617.98	34	chr11	83248140	.	G	A	617.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.468e+00;DP=743;ExcessHet=0.0000;FS=3.517;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.36;ReadPosRankSum=0.156;SOR=0.321	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1157	20	0	1	0
chr11	83874444	83874444	A	G	exonic	DLG2	.	nonsynonymous SNV	DLG2:NM_001142700:exon8:c.T917C:p.L306P	.	.	439	1075	7	1	0	9	0.0041686	.	.	247068	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.966	D	0.975	D	0.001	D	1.000	D	0.345	N	0.67	T	-0.909	T	0.153	T	0.904	2.261	13.52	5.56	2.108	4.851	12.100	0.178	0.0730335867839	0.0005	0.000599042	0.0012	0.0001	0.0006	0	0	0.0008	0.0022	0.0048	0.0010349	160	154602	rs201235627	0.0009	0.0009	0.0007	0.0011	0.0074	0.0009	0.0008	0.0056	0.0050	0.0003	0.0005	3.863e-05	0	0	0.0074	0.0006	0.0009	0.0053	0.0007	0.0007	0.0006	0.0008	0.0066	0.0006	0.0005	0.0048	0.0042	4.809e-05	0	0.0003	0	0	0	0.0102	0.0008	0.0019	0.0066	0.155	0.48186	T	0.262	0.27056	T	0.518	0.56202	P	0.092	0.73362	B	0.000548	0.43413	D	0.000000	1	0.81001	D	0.55	0.14455	N	0.67	0.52187	T	-0.12	0.11547	N	0.746	0.78546	-0.9095	0.46916	T	0.153	0.48188	T	9	0.008063883	0.00183	T	0.073034	0.71685	D	0.178	0.44724	.	.	0.886961116542	0.88584	0.42131861621044103	0.42047	2.04949041929	0.94333	0.800439596176	0.82029	T	0.063611	0.32220	T	-0.109144	0.34909	T	0.0716742	0.75023	D	0.0460801531457878	0.04799	T	0.889011	0.62583	D	0.22135021	0.44710	0.31501848	0.57490	0.24573173	0.47534	0.36571014	0.61914	-2.911	0.12153	T	.	.	0.109	0.29588	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.624875	0.73477	26.0	0.99449510034184918	0.65223	0.92614	0.56127	D	AEFI	0.884219	0.81374	D	0.00486811737786505	0.42077	2.528462	0.194604541320271	0.49551	3.156914	0.0548855013654547	0.14993	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.56	5.56	0.83678	4.949000	0.63298	11.080000	0.85733	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	12.100	0.53077	837	0.37933	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	203.98	37	chr11	83874444	.	A	G	203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.153e+00;DP=767;ExcessHet=0.0000;FS=1.392;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.51;ReadPosRankSum=0.146;SOR=0.387	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1125	20	0	1	0
chr11	85111728	85111728	T	G	exonic	DLG2	.	nonsynonymous SNV	DLG2:NM_001142699:exon6:c.A290C:p.Q97P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	B	0.043	B	0.158	U	1.000	D	0	N	2.67	T	-1.062	T	0.064	T	0.281	2.178	13.24	5.01	1.889	4.871	13.285	0.039	0.0116583616035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	0.53900	T	0.231	0.25061	T	0.261	0.31520	B	0.043	0.24256	B	0.158371	0.17742	U	0.380726	0.74263	0.29719	N	.	.	.	2.67	0.52642	T	-0.14	0.21429	N	0.46	0.49692	-1.0620	0.11263	T	0.064	0.26385	T	9	0.17109984	0.31810	T	0.011658	0.29506	T	0.039	0.10176	0.17	0.07536	0.34936206512	0.34543	0.156102056916071	0.15531	0.143206350584	0.16158	0.414813309908	0.27123	T	.	.	.	-0.114678	0.33998	T	-0.402504	0.33093	T	0.904957056045532	0.55856	D	0.474753	0.14169	T	.	.	.	.	.	.	.	.	-3.48	0.16153	T	.	.	0.097	0.15921	B	.;.;.	.;.;.	4.001642	0.58965	24.0	0.98972900263950436	0.49560	0.93013	0.57106	D	AEFBI	0.827131	0.74648	D	-0.125858755390883	0.36269	2.094154	0.0718893767597309	0.43141	2.622093	0.999740774026306	0.42466	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.01	5.01	0.66477	4.903000	0.62964	7.922000	0.74576	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	13.285	0.59671	507	0.75469	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	336.98	35	chr11	85111728	.	T	G	336.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.360e-01;DP=547;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.96;ReadPosRankSum=-2.640e-01;SOR=0.586	GT:AD:DP:GQ:PL	0/0:33,0:33:93:0,93,1395	20	0	1	0
chr11	85636171	85636171	G	T	exonic	TMEM126B	.	nonsynonymous SNV	TMEM126B:NM_001256547:exon4:c.G497T:p.G166V	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	YES	433	1088	1	0	0	1	0.000459348	.	.	237764	Mitochondrial_complex_I_deficiency|not_provided|Mitochondrial_complex_1_deficiency,_nuclear_type_29|Mitochondrial_disease	MONDO:MONDO:0100133,MedGen:C1838979,Orphanet:2609|MedGen:C3661900|MONDO:MONDO:0032633,MedGen:C4748830,OMIM:618250|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.999	D	0.995	D	0.000	D	0.999	D	2.455	M	1.18	T	-0.654	T	0.205	T	0.908	3.126	16.45	4.1	2.793	2.341	10.979	0.309	0.0454394286743	0.0012	.	0.0013	0.0003	0.0003	0	0.0012	0.0021	0.0023	0.0001	0.0013195	204	154602	rs141542003	0.0015	0.0015	0.0015	0.0014	0.0018	0.0014	0.0014	0.0018	0.0017	0.0002	9.487e-05	0	0	0.0014	0.0002	0.0018	0.0009	4.73e-05	0.0010	0.0010	0.0011	0.0009	0.0018	0.0008	0.0008	0.0015	0.0014	0.0003	0	6.551e-05	0.0003	0	0.0010	0	0.0018	0	0	0.002	0.72154	D	0.0	0.92824	D	0.999	0.77913	D	0.995	0.83170	D	0.000001	0.84330	D	0.129538	0.887367	0.46300	D	2.655	0.77738	M	1.18	0.37746	T	-6.17	0.90254	D	0.598	0.65587	-0.6540	0.62539	T	0.205	0.56293	T	9	0.17585585	0.32539	T	0.045439	0.61979	D	0.309	0.63055	.	.	0.333154297509	0.32921	0.6454818489090022	0.64483	0.290691010596	0.31478	0.378399193287	0.22029	T	0.04239	0.26168	T	-0.0886299	0.38302	T	0.106452	0.77337	D	0.0969241983163035	0.12014	T	0.763624	0.39028	T	0.5933246	0.72330	0.44750154	0.67827	0.6463832	0.75172	0.48253524	0.70038	-7.162	0.55208	T	0.5877603048417654	0.65455	0.665	0.74625	P	.;.	.;.	3.502374	0.49009	22.7	0.99381967749807854	0.61935	0.82175	0.41443	D	AEFBI	0.242474	0.36392	N	0.400734397124663	0.61464	4.347764	0.267421096847958	0.53645	3.532609	0.718534203549623	0.22903	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.08	4.1	0.47196	2.435000	0.44469	7.931000	0.75020	0.676000	0.76740	0.870000	0.30794	1.000000	0.68203	0.017000	0.10941	0.0:0.1884:0.8116:0.0	10.979	0.46700	571	0.70397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1013.98	38	chr11	85636171	.	G	T	1013.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.960e-01;DP=771;ExcessHet=0.0000;FS=1.973;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=-1.391e+00;SOR=0.529	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1218	20	0	1	0
chr11	85685228	85685228	C	A	exonic	CCDC89	.	nonsynonymous SNV	CCDC89:NM_152723:exon1:c.G903T:p.E301D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.925	P	0.621	P	0.002	N	0.599	D	2.175	M	.	.	-0.495	T	0.161	T	0.258	1.351	10.44	5.15	1.577	0.462	9.717	0.128	0.0195568552878	0.0052	0.00159744	0.0040	0.0009	0.0021	0	0.0039	0.0060	0.0011	0.0016	0.0041267	638	154602	rs146974066	0.0058	0.0058	0.0059	0.0057	0.0068	0.0057	0.0057	0.0067	0.0066	0.0007	0.0024	0.0074	0	0.0045	0.0012	0.0068	0.0047	0.0011	0.0036	0.0036	0.0037	0.0035	0.0062	0.0034	0.0033	0.0057	0.0055	0.0008	0	0.0020	0.0078	0	0.0026	0.0034	0.0062	0.0024	0.0008	0.099	0.30656	T	0.047	0.48855	D	0.925	0.51395	P	0.621	0.51426	P	0.001549	0.38671	N	0.269234	0.599066	0.32522	D	2.19	0.61577	M	.	.	.	-1.34	0.33401	N	0.183	0.19861	-0.4952	0.68822	T	0.161	0.49665	T	8	0.0034833848	0.00062	T	0.019557	0.41954	T	0.128	0.35103	0.043	0.00046	0.226586394389	0.22295	0.045058852306013426	0.04449	0.47051067116	0.46324	0.337947577238	0.16130	T	0.074303	0.34905	T	-0.466492	0.00895	T	-0.438294	0.29000	T	0.0424989677339832	0.04147	T	0.423358	0.11306	T	0.06837347	0.14889	0.08507403	0.19616	0.06837347	0.14889	0.08507403	0.19615	-5.205	0.38992	T	.	.	0.155	0.34294	B	.	.	1.913561	0.24307	16.35	0.99269866417868635	0.57525	0.63127	0.31993	D	AEFDGBIJ	0.265229	0.38240	N	-0.0563202572452191	0.39321	2.316858	-0.118862324188583	0.34630	1.994169	0.999999981591651	0.74766	0.57788	0.32782	0	0.573888	0.26702	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	6.06	5.15	0.70287	0.278000	0.18514	0.411000	0.18111	-0.876000	0.02500	0.158000	0.23769	0.028000	0.21151	0.042000	0.14466	0.0:0.7936:0.0:0.2064	9.717	0.39444	356	0.85138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2291.98	36	chr11	85685228	.	C	A	2291.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.934e+00;DP=878;ExcessHet=0.0000;FS=5.231;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=-3.630e-01;SOR=1.051	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1232	20	0	1	0
chr11	85720911	85720911	G	T	exonic	SYTL2	.	nonsynonymous SNV	SYTL2:NM_001162951:exon8:c.C1508A:p.A503D	.	.	432	1079	11	0	0	11	0.00507146	.	.	724778	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.798	P	0.429	B	0.124	N	1.000	N	1.7	L	1.72	T	-0.941	T	0.089	T	0.238	1.208	9.905	4.89	1.446	3.379	11.640	0.032	.	0.0088	0.00239617	0.0078	0.0014	0.0022	0	0.0147	0.0114	0.0144	0.0023	0.0078071	1207	154602	rs74547795	0.0094	0.0095	0.0097	0.0092	0.0106	0.0093	0.0093	0.0104	0.0103	0.0014	0.0032	0.0136	2.519e-05	0.0139	0.0047	0.0106	0.0087	0.0024	0.0077	0.0078	0.0078	0.0077	0.0116	0.0074	0.0072	0.0109	0.0107	0.0018	0.0033	0.0056	0.0144	0.0002	0.0138	0	0.0116	0.0071	0.0029	0.037	0.43708	D	0.345	0.57104	T	0.009	0.16609	B	0.035	0.22741	B	0.124102	0.18893	N	0.562585	0.661865	0.30494	N	2.075	0.57047	M	1.63	0.28391	T	-2.63	0.62343	D	0.29	0.44090	-0.9411	0.42442	T	0.089	0.34216	T	9	0.00502038	0.00108	T	.	.	.	0.032	0.07718	.	.	0.543995976431	0.54053	0.43247073042365514	0.43164	0.0172038814892	0.01670	0.440875887871	0.30696	T	0.065712	0.64664	T	-0.505865	0.00530	T	-0.487092	0.23696	T	0.0109972066816872	0.00158	T	0.822218	0.48193	T	0.34158683	0.56405	0.3544117	0.60986	0.28711665	0.51723	0.3544117	0.60986	-7.452	0.57272	T	.	.	0.156	0.46825	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.921845	0.57260	23.8	0.96169482988757549	0.28923	0.89773	0.50456	D	AEFBI	0.478656	0.52113	N	0.0193688179009402	0.42737	2.580632	0.130897799693002	0.46137	2.864721	0.999996728304613	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.81	4.89	0.63387	3.468000	0.52850	8.560000	0.77563	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.808000	0.38083	0.0:0.1342:0.7263:0.1395	11.640	0.50484	387	0.83408	.;.;.;.;.;.;.;.;.	.	.	.	.	rs74547795	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1148.98	35	chr11	85720911	.	G	T	1148.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.573e+00;DP=811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.26;ReadPosRankSum=1.23;SOR=0.620	GT:AD:DP:GQ:PL	0/1:51,51:102:99:1163,0,1271	20	0	1	0
chr11	85726221	85726221	A	G	exonic	SYTL2	.	nonsynonymous SNV	SYTL2:NM_206927:exon8:c.T3137C:p.M1046T	.	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.489	N	1.000	N	0	N	1.83	T	-0.999	T	0.026	T	0.054	-1.940	0.007	-7.9	-1.461	-0.920	9.172	0.004	0.00236800204068	0.0007	0.00119808	0.0005	0	8.639e-05	0.0002	0	0.0008	0.0022	0.0002	0.0004916	76	154602	rs147296637	0.0004	0.0004	0.0004	0.0004	0.0062	0.0004	0.0004	0.0046	0.0041	0.0003	0.0004	0.0046	5.04e-05	0	0.0062	0.0003	0.0009	0.0004	0.0005	0.0005	0.0005	0.0004	0.0006	0.0004	0.0004	0.0004	0.0003	7.221e-05	0	0.0004	0.0060	0.0006	0	0	0.0005	0.0010	0.0006	.	.	.	0.292	0.56640	T	.	.	.	.	.	.	0.489307	0.05026	N	1.311420	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.048	0.01999	-0.9990	0.30199	T	0.026	0.11087	T	9	0.003896743	0.00074	T	0.002368	0.04618	T	0.004	0.00165	.	.	.	.	.	.	0.0126296370296	0.01203	0.240424022079	0.02829	T	.	.	.	.	.	.	.	.	.	.	.	.	0.342966	0.07460	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.14155	B	.;.	.;.	-1.605422	0.00238	0.004	0.50318157762843629	0.04363	0.00590	0.02647	N	AEFDGBHCI	0.051251	0.09038	N	-1.67792039667089	0.00923	0.03997063	-1.73871242039004	0.00976	0.04374515	1.0	0.98316	0.559995	0.30671	0	0.59043	0.45803	0	0.527494	0.11647	0	0.648885	0.59868	0	.	.	5.39	-7.9	0.01035	-0.870000	0.04336	-0.163000	0.11303	-0.865000	0.02600	0.000000	0.06391	0.000000	0.08366	0.212000	0.22240	0.5679:0.1862:0.2459:0.0	9.172	0.36252	403	0.82567	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2654.98	38	chr11	85726221	.	A	G	2654.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.300e-02;DP=2317;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=1.33;SOR=0.660	GT:AD:DP:GQ:PL	0/0:138,0:138:99:0,120,1800	20	0	1	0
chr11	85981206	85981206	C	T	exonic	PICALM	.	nonsynonymous SNV	PICALM:NM_001008660:exon16:c.G1552A:p.G518S	Leukemia, acute myeloid, somatic	.	2	1518	2	0	0	2	0.000658328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	B	0.045	B	0.000	D	1.000	D	1.21	L	0.91	T	-0.836	T	0.215	T	0.509	3.479	17.80	5.27	2.635	5.732	14.541	0.078	0.016500401635	7.7e-05	.	5.768e-05	0	0	0	0	8.995e-05	0	6.059e-05	5.17e-05	8	154602	rs369070232	8.954e-05	9.374e-05	8.72e-05	9.189e-05	0.0003	7.665e-05	7.205e-05	0.0001	0.0001	0	4.477e-05	0	0	0	0.0003	9.243e-05	0.0001	0.0002	7.883e-05	7.88e-05	7.706e-05	8.068e-05	0.0002	4.496e-05	3.511e-05	4.764e-05	3.338e-05	7.239e-05	0	6.543e-05	0	0	0	0	0.0001	0	0.0002	0.206	0.30800	T	0.453	0.13441	T	0.001	0.19075	B	0.002	0.21085	B	0.000001	0.84330	D	0.054258	0.999907	0.52396	D	1.09	0.27330	L	0.91	0.44856	T	-2.74	0.58248	D	0.463	0.52829	-0.8361	0.52904	T	0.215	0.57679	T	9	0.26051572	0.43501	T	0.017	0.37786	T	0.095	0.27398	.	.	0.508253470527	0.50464	0.6366169520387644	0.63595	0.0208092770447	0.02056	0.743304729462	0.73459	T	0.422475	0.77354	T	-0.212335	0.19051	T	-0.351098	0.39079	T	0.113398291170597	0.13773	T	0.957804	0.84101	D	0.20774856	0.42990	0.2304416	0.48147	0.20774856	0.42990	0.2304416	0.48146	-5.281	0.49424	T	.	.	0.112	0.29450	B	.;.;.;.;.	.;.;.;.;.	4.115600	0.61477	24.3	0.98919399121225371	0.48527	0.98035	0.79053	D	AEFDBI	0.792305	0.72064	D	0.361567124562818	0.59354	4.113997	0.45714238304081	0.65179	4.790969	0.999999986629083	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	5.786000	0.68654	7.716000	0.67067	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.9271:0.0:0.0729	14.541	0.67579	609	0.67094	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	525.98	38	chr11	85981206	.	C	T	525.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.570e-01;DP=867;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.62;ReadPosRankSum=-1.800e-01;SOR=0.703	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	20	0	1	0
chr11	86031582	86031582	C	T	exonic	PICALM	.	nonsynonymous SNV	PICALM:NM_001008660:exon2:c.G160A:p.V54M	Leukemia, acute myeloid, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.999	D	0.000	D	1.000	D	1.785	L	1.51	T	-0.916	T	0.183	T	0.881	4.826	27.4	5.52	2.588	7.750	19.448	0.273	0.0213262870975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.075	0.57587	T	0.943	0.53072	P	0.928	0.66279	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.17	0.29769	L	1.51	0.30937	T	-2.38	0.57599	N	0.478	0.54147	-0.9162	0.46063	T	0.183	0.53194	T	9	0.7586508	0.76175	D	0.021326	0.44082	T	0.273	0.58883	0.682	0.81982	0.680912834824	0.67819	0.40081948121042876	0.39996	0.939219290229	0.72156	0.883453011513	0.94421	D	0.474879	0.80615	T	0.194242	0.73355	D	0.0412385	0.73008	D	0.979914247989655	0.73080	D	0.962404	0.87188	D	0.5487056	0.69884	0.41596812	0.65695	0.5487056	0.69885	0.41596812	0.65695	-12.576	0.87543	D	.	.	0.587	0.77273	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.621486	0.73395	26.0	0.99846933833616425	0.92663	0.98304	0.81443	D	AEFGBI	0.913154	0.87475	D	0.679677169106741	0.78300	6.84399	0.709672495467543	0.83111	7.937366	1.0	0.98316	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.52	5.52	0.82153	6.144000	0.71525	5.922000	0.51181	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.448	0.94847	651	0.62880	AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  domain;.;AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  domain;AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  domain;.;.;AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  domain;AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  domain;AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	93.44	25	chr11	86031582	.	C	T	93.44	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.100e+00;DP=939;ExcessHet=0.1072;FS=204.210;InbreedingCoeff=-0.0599;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.54;ReadPosRankSum=0.417;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,15:75:92:0|1:86031582_C_T:92,0,1902:86031582	19	0	2	0
chr11	86392745	86392745	A	T	exonic	CCDC81	.	nonsynonymous SNV	CCDC81:NM_001156474:exon4:c.A503T:p.D168V,	.	.	429	1092	1	0	0	1	0.000457666	.	.	3296066	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.713	P	0.36	B	.	.	1.000	D	1.5	L	0.72	T	-1.030	T	0.121	T	0.794	0.883	8.584	4.56	0.984	6.148	10.749	0.340	0.0521492676499	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1319474820	1.93e-05	1.847e-05	1.833e-05	2.028e-05	0.0004	1.321e-05	1.133e-05	6.165e-05	2.548e-05	0	0	0	0	0	0.0004	2.317e-05	0	0	2.628e-05	2.627e-05	5.139e-05	0	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.003	0.68238	D	0.083	0.41405	T	0.713	0.42139	P	0.36	0.43183	B	.	.	.	.	0.999925	0.81001	D	2.34	0.67151	M	0.72	0.50976	T	-5.63	0.86836	D	0.678	0.68516	-1.0303	0.20357	T	0.121	0.42058	T	8	0.5847764	0.66048	D	0.052149	0.64951	D	0.340	0.66202	.	.	0.479056812784	0.47537	0.8159484030185777	0.81550	0.475427852183	0.46717	0.449824810028	0.31920	T	0.117639	0.43787	T	-0.0388504	0.46119	T	-0.0782473	0.65032	T	0.482591927051544	0.31992	T	0.823718	0.48487	T	0.45384982	0.64285	0.6373813	0.78825	0.45384982	0.64285	0.6373813	0.78826	-11.44	0.82016	D	.	.	0.393	0.59171	A	.	.	3.775543	0.54258	23.5	0.76350062237108207	0.11433	0.92427	0.55687	D	AEFI	0.672898	0.63914	D	-0.0786640535769493	0.38330	2.24324	-0.043738936825297	0.37763	2.215446	0.663387597057153	0.22295	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.69	4.56	0.55644	6.458000	0.73425	8.035000	0.76290	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.9243:0.0:0.0757:0.0	10.749	0.45395	839	0.37672	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1438.98	33	chr11	86392745	.	A	T	1438.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.180e-01;DP=801;ExcessHet=0.0000;FS=1.669;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=1.35;SOR=0.499	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1266	20	0	1	0
chr11	86415120	86415120	C	G	exonic	CCDC81	.	nonsynonymous SNV	CCDC81:NM_021827:exon12:c.C1228G:p.P410A	.	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	B	0.006	B	0.025	N	1.000	N	0	N	1.1	T	-1.078	T	0.042	T	0.083	-0.279	2.664	-10.4	-1.585	-0.876	6.643	0.019	0.00788518401802	0.0002	0.000399361	0.0007	0	0	0	0	0.0002	0.0022	0.0044	0.0005951	92	154602	rs145739398	0.0003	0.0003	0.0002	0.0004	0.0038	0.0003	0.0003	0.0034	0.0033	0	0	0	0	7.488e-05	0.0007	0.0001	0.0004	0.0038	0.0002	0.0002	0.0002	0.0003	0.0044	0.0002	0.0001	0.0029	0.0024	2.406e-05	0	0	0	0	0.0002	0	0.0002	0	0.0044	0.944	0.03451	T	0.758	0.12211	T	0.0	0.09854	B	0.001	0.12133	B	0.024586	0.01614	N	1.935030	1	0.08975	N	0	0.06538	N	1.1	0.39050	T	0.06	0.09627	N	0.148	0.21839	-1.0778	0.07781	T	0.042	0.18243	T	9	0.0034432411	0.00061	T	0.007885	0.20903	T	0.019	0.03383	.	.	0.0138822411134	0.00435	0.03840143848920956	0.03786	0.133221467651	0.15002	0.210078492761	0.00815	T	8.0E-4	0.00390	T	-0.661201	0.00062	T	-0.723702	0.04619	T	0.00709212495462494	0.00081	T	0.0611939	0.00449	T	0.018393952	0.00360	0.031389177	0.01720	0.018393952	0.00360	0.031389177	0.01720	-3.405	0.18553	T	.	.	0.06	0.00934	B	.;.;.	.;.;.	-2.438294	0.00037	0.001	0.2216645138397858	0.00879	0.00454	0.02197	N	AEFDBI	0.020198	0.00774	N	-1.92257031304594	0.00308	0.01324657	-1.9876045438552	0.00325	0.01436125	0.999850099849719	0.44174	0.553676	0.25195	0	0.547309	0.14657	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.86	-10.4	0.00257	-0.857000	0.04394	-5.790000	0.01595	-1.776000	0.00658	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.134:0.1535:0.6442:0.0684	6.643	0.22108	861	0.33516	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	924.98	41	chr11	86415120	.	C	G	924.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.177e+00;DP=811;ExcessHet=0.0000;FS=1.658;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.16;ReadPosRankSum=1.16;SOR=0.484	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1102	20	0	1	0
chr11	86807809	86807809	G	A	exonic	PRSS23	.	nonsynonymous SNV	PRSS23:NM_001293179:exon2:c.G166A:p.E56K	.	.	427	1090	5	0	0	5	0.00228833	.	.	2813643	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.001	B	0.001	B	0.012	N	0.982	D	1.185	L	.	.	-1.052	T	0.089	T	0.431	0.025	4.142	1.85	0.093	1.018	9.843	0.100	0.00490730873814	0.0048	0.00159744	0.0051	0.0013	0.0015	0	0.0044	0.0083	0.0066	0.0003	0.005181	801	154602	rs143933691	0.0057	0.0057	0.0059	0.0056	0.0068	0.0056	0.0056	0.0067	0.0066	0.0011	0.0014	0.0047	2.519e-05	0.0053	0.0024	0.0068	0.0048	0.0003	0.0039	0.0040	0.0042	0.0037	0.0070	0.0037	0.0036	0.0065	0.0063	0.0010	0	0.0018	0.0046	0	0.0027	0	0.0070	0.0057	0	0.296	0.14694	T	0.245	0.24054	T	0.001	0.07471	B	0.001	0.04355	B	0.012096	0.29294	N	0.404642	0.982409	0.39888	D	0.875	0.21512	L	.	.	.	-1.22	0.30964	N	0.08	0.05542	-1.0516	0.13954	T	0.089	0.34188	T	8	0.0061273575	0.00138	T	0.004907	0.12349	T	0.100	0.28662	.	.	0.292787519742	0.28880	0.4225146030115104	0.42168	0.209783114347	0.23452	0.353740036488	0.18471	T	0.01825	0.21550	T	-0.426184	0.01564	T	-0.376998	0.36073	T	0.00232326891906804	0.00024	T	0.809319	0.45944	T	0.0518816	0.09595	0.053630996	0.09072	0.0518816	0.09595	0.053630996	0.09072	-4.016	0.24042	T	0.11285562263399106	0.09811	0.069	0.02960	B	.;.	.;.	0.246467	0.06261	2.716	0.93936637022928982	0.23989	0.58002	0.30525	D	AEFBCI	0.190252	0.31748	N	-0.758312768891248	0.14408	0.7174757	-0.693779592248153	0.17115	0.9086285	0.999742636879434	0.42466	0.722319	0.85440	0	0.563428	0.19063	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.8	1.85	0.24418	0.927000	0.28418	-0.050000	0.12557	-0.734000	0.03706	0.597000	0.27722	0.000000	0.08366	0.116000	0.19000	0.2772:0.0:0.7228:0.0	9.843	0.40177	833	0.38804	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2069.98	36	chr11	86807809	.	G	A	2069.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.240;DP=868;ExcessHet=0.0000;FS=0.613;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=0.249;SOR=0.799	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1319	20	0	1	0
chr11	88149745	88149745	T	G	exonic	RAB38	.	nonsynonymous SNV	RAB38:NM_022337:exon2:c.A413C:p.N138T,	.	.	434	1081	7	0	0	7	0.00322729	.	.	2677441	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.037	B	0.034	B	0.000	D	1.000	D	-0.985	N	-1.27	T	-0.836	T	0.168	T	0.499	1.842	12.12	5.47	2.080	7.603	15.559	0.187	0.0986040171338	.	.	2.471e-05	0	0	0	0	4.496e-05	0	0	1.94e-05	3	154602	rs755523753	5.062e-05	5.062e-05	4.22e-05	5.913e-05	0.0023	4.125e-05	3.778e-05	0.0013	0.0011	0	0	0	0	0	0.0023	5.126e-05	4.967e-05	1.159e-05	2.626e-05	2.625e-05	1.285e-05	4.027e-05	6.538e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.538e-05	0	0	0	0	4.41e-05	0	0	0.444	0.09155	T	0.53	0.10103	T	0.037	0.20876	B	0.034	0.22546	B	0.000000	0.84330	D	0.085701	1	0.81001	D	0.16	0.08945	N	-1.27	0.79277	T	-1.06	0.27669	N	0.812	0.80767	-0.8359	0.52917	T	0.168	0.50697	T	9	0.6209884	0.67976	D	0.098604	0.76970	D	0.285	0.60338	.	.	0.883441757388	0.88230	0.5817529441714275	0.58104	0.161022513929	0.18171	0.702439308167	0.67497	T	0.299458	0.67198	T	0.0124215	0.53356	T	-0.156288	0.58684	T	0.39479598402977	0.28746	T	0.862614	0.55818	D	0.3135011	0.54087	0.23442636	0.48659	0.3135011	0.54087	0.23442636	0.48658	-5.503	0.41896	T	.	.	0.111	0.21503	B	.	.	3.407970	0.47264	22.4	0.97492681502517853	0.34251	0.98222	0.80675	D	AEFBI	0.944912	0.95257	D	-0.16801361499134	0.34470	1.967941	0.105592556351835	0.44834	2.757563	0.999905341230327	0.45458	0.693126	0.56070	0	0.708844	0.79440	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.47	5.47	0.80345	7.580000	0.81812	7.770000	0.68454	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:0.0:1.0	15.559	0.75963	893	0.26510	Small GTP-binding protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1758.98	38	chr11	88149745	.	T	G	1758.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.843;DP=858;ExcessHet=0.0000;FS=1.319;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.81;ReadPosRankSum=0.617;SOR=0.574	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1152	20	0	1	0
chr11	88335035	88335035	C	T	exonic	CTSC	.	nonsynonymous SNV	CTSC:NM_001114173:exon2:c.G220A:p.A74T	Haim-Munk syndrome, Autosomal recessive;Papillon-Lefevre syndrome, Autosomal recessive;Periodontitis 1, juvenile, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.000	D	1.000	D	3.1	M	-2.77	D	0.927	D	0.877	D	0.745	4.178	21.6	5.84	2.760	6.902	17.072	0.725	0.165273932962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.65419	D	0.011	0.92824	D	1.0	0.90584	D	0.996	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.255	0.89877	M	-2.77	0.90904	D	-2.87	0.65056	D	0.778	0.84817	0.927	0.96063	D	0.877	0.95901	D	9	0.9256468	0.91913	D	0.165274	0.84418	D	0.725	0.90324	0.785	0.90844	0.988174744022	0.98804	0.8616309454754344	0.86127	0.377667360134	0.39193	0.476274728775	0.35544	T	0.889245	0.97737	D	0.305594	0.83407	D	0.201188	0.83191	D	0.994466364383698	0.85769	D	0.90021	0.65300	D	0.87257683	0.89066	0.71020335	0.82906	0.87257683	0.89068	0.71020335	0.82907	-2.105	0.07320	T	.	.	0.308	0.58697	B	.;.;.	.;.;.	5.075202	0.84663	28.4	0.99522363784075729	0.69346	0.92213	0.55198	D	AEFGBCI	0.815156	0.73720	D	0.874176803725499	0.90438	10.40421	0.823745604372536	0.91392	10.86424	1.0	0.98316	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.723	0.93126	0	.	.	5.84	5.84	0.93373	7.364000	0.78783	7.673000	0.64890	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.936000	0.47498	0.0:1.0:0.0:0.0	17.072	0.86451	858	0.34001	Cathepsin C exclusion;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4009.98	65	chr11	88335035	.	C	T	4009.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.082;DP=1699;ExcessHet=0.0000;FS=3.215;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.73;ReadPosRankSum=0.701;SOR=0.521	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,108,1620	20	0	1	0
chr11	89284805	89284805	C	T	exonic	TYR	.	nonsynonymous SNV	TYR:NM_000372:exon4:c.C1217T:p.P406L,	Albinism, oculocutaneous, type IA, Autosomal recessive;Albinism, oculocutaneous, type IB;Waardenburg syndrome/albinism, digenic, Autosomal dominant	YES	1	1500	18	3	0	24	0.00793651	.	.	18816	Oculocutaneous_albinism|Ocular_albinism_with_congenital_sensorineural_hearing_loss|SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN|Tyrosinase-negative_oculocutaneous_albinism|Oculocutaneous_albinism_type_1B|Abnormality_of_the_skin|not_provided|TYR-related_disorder|Hearing_impairment|Inborn_genetic_diseases	MONDO:MONDO:0018910,MedGen:C0078918,OMIM:PS203100,Orphanet:55|MedGen:CN028925|MedGen:C2677190,OMIM:601800|MONDO:MONDO:0008745,MedGen:C4551504,OMIM:203100,Orphanet:352731,Orphanet:79431|MONDO:MONDO:0011749,MedGen:C1847024,OMIM:606952,Orphanet:352731,Orphanet:352737,Orphanet:79434|Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159|MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	1.0	D	0.997	D	0.000	D	1.000	A	2.505	M	-5.19	D	1.097	D	0.968	D	0.877	4.485	24.0	4.68	2.166	7.381	17.625	0.921	0.544949560015	0.0036	0.00199681	0.0035	0.0007	0.0011	0.0002	0.0099	0.0045	0.0022	0.0019	0.0005821	90	154602	rs104894313	0.0046	0.0047	0.0047	0.0045	0.0056	0.0045	0.0045	0.0047	0.0047	0.0005	0.0018	0.0091	5.043e-05	0.0107	0.0056	0.0048	0.0046	0.0020	0.0037	0.0037	0.0033	0.0041	0.0045	0.0034	0.0033	0.0041	0.0039	0.0011	0	0.0027	0.0092	0	0.0108	0	0.0045	0.0052	0.0029	0.004	0.65419	D	0.004	0.74150	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	A	3.365	0.91266	M	-5.19	0.98838	D	-4.3	0.76496	D	0.875	0.87265	1.097	0.99552	D	0.968	0.98993	D	8	0.037014306	0.02032	T	0.54495	0.95779	D	0.921	0.98003	.	.	0.995345409781	0.99529	0.8822665376559435	0.88194	0.0594517113591	0.06608	0.474457263947	0.35295	T	0.833823	0.96059	D	0.172752	0.71376	D	0.477013	0.94154	D	0.0204034174202131	0.00740	T	0.791921	0.43319	T	0.47709885	0.65724	0.3593413	0.61395	0.47709885	0.65724	0.3593413	0.61394	-10.302	0.75700	D	0.6564132779359806	0.72927	0.234	0.46756	B	.	.	4.758256	0.76898	26.6	0.99867932480707045	0.94547	0.97660	0.76227	D	AEFGI	0.928006	0.91155	D	0.700133257746569	0.79642	7.120714	0.63572376952635	0.77551	6.701336	0.999827743249958	0.43622	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.68	4.68	0.58319	7.416000	0.79356	7.705000	0.66497	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	17.625	0.87992	894	0.26265	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	381.98	40	chr11	89284805	.	C	T	381.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.59;DP=764;ExcessHet=0.0000;FS=7.153;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.64;MQRankSum=-4.850e+00;QD=8.13;ReadPosRankSum=0.434;SOR=2.026	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr11	89444196	89444196	T	C	exonic	NOX4	.	nonsynonymous SNV	NOX4:NM_001291929:exon4:c.A311G:p.N104S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	B	0.235	B	0.001	N	1.000	D	1.925	M	-2.72	D	0.056	D	0.655	D	0.023	2.463	14.19	4.04	0.918	1.339	10.083	0.367	0.21702248187	.	.	5.79e-05	0	0	0.0005	0	3.008e-05	0.0011	0	4.53e-05	7	154602	rs753230366	3.011e-05	3.01e-05	1.77e-05	4.264e-05	0.0002	2.282e-05	2.033e-05	0.0001	8.778e-05	0	0	0.0008	0.0002	1.872e-05	0	7.196e-06	8.281e-05	0	1.972e-05	1.969e-05	1.286e-05	2.689e-05	0.0004	5.24e-06	2.45e-06	6.862e-05	2.87e-05	0	0	6.551e-05	0	0.0004	0	0	0	0	0	0.118	0.28148	T	0.488	0.37310	T	0.073	0.31319	B	0.074	0.38432	B	0.001470	0.38917	N	0.276160	0.989858	0.81001	D	2.37	0.68279	M	-2.72	0.90622	D	-1.96	0.47008	N	0.341	0.38232	0.056	0.83358	D	0.655	0.87996	D	9	0.36495686	0.53027	T	0.217022	0.87588	D	0.367	0.68670	0.815	0.92992	0.880952075582	0.87978	0.3759652565613953	0.37510	0.0440837947747	0.04745	0.436702549458	0.30127	T	0.272867	0.64528	T	-0.30522	0.08175	T	-0.37588	0.36204	T	0.0564761804603757	0.06601	T	0.853715	0.53946	D	0.034224413	0.03801	0.05589514	0.09889	0.034224413	0.03800	0.05589514	0.09889	-10.09	0.74775	D	.	.	0.094	0.30529	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.812079	0.23026	15.86	0.98835363619644745	0.47018	0.79950	0.39722	D	AEFDBI	0.429109	0.49236	N	-0.144105177002451	0.35487	2.038904	-0.0290017578959833	0.38411	2.262617	0.999984943330519	0.51787	0.732398	0.92422	0	0.573888	0.26702	0	0.618467	0.43123	0	0.727631	0.95156	0	.	.	5.16	4.04	0.46262	1.479000	0.35061	2.862000	0.35209	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0813:0.0:0.9187	10.083	0.41574	906	0.23090	.;.;.;Ferric reductase transmembrane component-like domain;Ferric reductase transmembrane component-like domain;.;.;Ferric reductase transmembrane component-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1304.98	35	chr11	89444196	.	T	C	1304.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.665;DP=824;ExcessHet=0.0000;FS=2.185;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.60;ReadPosRankSum=-1.100e-01;SOR=0.857	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1267	20	0	1	0
chr11	89449484	89449484	C	T	exonic	NOX4	.	nonsynonymous SNV	NOX4:NM_001291929:exon3:c.G230A:p.R77K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	B	0.009	B	0.000	N	1.000	N	-0.09	N	-2.76	D	-0.698	T	0.400	T	0.341	0.277	5.497	4.5	1.244	3.375	6.966	0.228	0.0375397813023	.	0.000599042	0.0005	0	0	0	0.0043	0.0003	0	0.0011	0.0004398	68	154602	rs55977241	0.0003	0.0003	0.0003	0.0003	0.0010	0.0003	0.0003	0.0008	0.0007	0	0	0	0	0.0046	0	6.57e-05	0.0003	0.0010	0.0004	0.0004	0.0003	0.0006	0.0012	0.0004	0.0003	0.0005	0.0004	0	0	0	0	0	0.0045	0	0.0002	0	0.0012	1.0	0.10115	T	1.0	0.12351	T	0.0	0.12996	B	0.007	0.14300	B	0.000010	0.62929	N	0.105540	1	0.81001	D	-0.605	0.02211	N	-2.76	0.90848	D	-0.07	0.08033	N	0.296	0.35194	-0.6979	0.60539	T	0.400	0.75187	T	9	0.013227731	0.00281	T	0.03754	0.57677	D	0.228	0.52768	.	.	0.897246663857	0.89623	0.46824486210278243	0.46743	0.0481075759234	0.05251	0.526759624481	0.42578	T	0.193136	0.54850	T	-0.237941	0.15612	T	-0.17091	0.57360	T	0.0309559590091711	0.02138	T	0.792521	0.43410	T	0.05107928	0.09328	0.04433272	0.05722	0.05107928	0.09327	0.04433272	0.05721	1.402	0.00152	T	.	.	0.091	0.25978	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.949420	0.24760	16.52	0.70295308040230198	0.09249	0.53369	0.29355	D	AEFBI	0.289360	0.40103	N	-0.275042050961511	0.30116	1.676247	-0.0534846344767746	0.37341	2.184973	0.00295788123431705	0.09827	0.732398	0.92422	0	0.573888	0.26702	0	0.618467	0.43123	0	0.727631	0.95156	0	.	.	5.42	4.5	0.54382	3.959000	0.56451	2.684000	0.34038	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.7296:0.0:0.2704	6.966	0.23802	906	0.23090	.;.;.;Ferric reductase transmembrane component-like domain;Ferric reductase transmembrane component-like domain;.;.;Ferric reductase transmembrane component-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1111.98	33	chr11	89449484	.	C	T	1111.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=806;ExcessHet=0.0000;FS=5.672;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.19;ReadPosRankSum=-7.790e-01;SOR=1.140	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr11	89798308	89798308	G	T	exonic	TRIM49	.	nonsynonymous SNV	TRIM49:NM_020358:exon8:c.C1181A:p.T394N,	.	.	449	1068	4	1	0	6	0.00280112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.722	P	0.562	P	.	.	1.000	N	1.43	L	0.31	T	-0.935	T	0.169	T	0.031	0.049	4.268	-1.0	-0.326	0.355	4.016	0.121	.	0.0018	0.0125799	0.0001	0.0001	9.491e-05	0.0001	0.0008	4.592e-05	0	0.0001	0.0024205	63	26028	rs200639518	0.0007	0.0073	0.0007	0.0007	0.0042	0.0006	0.0006	0.0037	0.0035	0.0001	0.0042	0.0003	0.0011	0.0004	0.0005	0.0006	0.0007	0.0004	7.287e-05	0.0008	7.075e-05	7.512e-05	0.0002	3.877e-05	2.979e-05	4.978e-05	3.576e-05	0	0	0.0002	0	0	0.0001	0	0.0001	0	0	0.395	0.28646	T	0.339	0.18071	T	0.722	0.42387	P	0.562	0.49608	P	.	.	.	.	1	0.08975	N	1.95	0.52479	M	0.31	0.58613	T	-2.08	0.53096	N	0.066	0.09772	-0.9354	0.43333	T	0.169	0.50939	T	8	0.006199956	0.00140	T	.	.	.	0.121	0.33580	.	.	0.0675242888579	0.06100	0.05331972406262152	0.05273	2.10380895774	0.94866	0.354791879654	0.18626	T	0.014711	0.12475	T	-0.306754	0.08037	T	-0.678407	0.07081	T	0.0340317392981548	0.02643	T	0.591241	0.21771	T	0.12427414	0.29161	0.10840994	0.26113	0.12427414	0.29161	0.10840994	0.26112	-5.56	0.42425	T	.	.	0.224	0.48438	B	.;.	.;.	1.275696	0.16750	12.74	0.52840737035453278	0.04824	0.01720	0.05450	N	AEFI	0.032898	0.03801	N	-0.872378462668012	0.11503	0.5554555	-1.10799681000859	0.07546	0.3674943	1.25965538376514E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.21	-1.0	0.09675	-1.681000	0.02039	-7.700000	0.01103	0.480000	0.22105	0.000000	0.06391	0.000000	0.08366	0.030000	0.13115	0.4816:0.0:0.5184:0.0	4.016	0.09133	834	0.38640	SPRY domain|B30.2/SPRY domain|SPRY domain;SPRY domain|B30.2/SPRY domain|SPRY domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	44.33	34	chr11	89798308	.	G	T	44.33	.	AC=2;AF=0.048;AN=42;DP=689;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.8834;MLEAC=1;MLEAF=0.024;MQ=27.00;QD=22.16;SOR=2.303	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1496	20	1	0	0
chr11	89804286	89804286	T	C	exonic	TRIM49	.	nonsynonymous SNV	TRIM49:NM_020358:exon3:c.A184G:p.I62V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	B	0.007	B	.	.	1.000	N	0	N	-1.78	D	-0.916	T	0.231	T	0.063	-0.390	2.169	0.821	0.629	1.686	3.939	0.111	0.00892876388708	.	.	.	.	.	.	.	.	.	.	.	.	.	rs760032090	1.369e-06	1.368e-06	2.725e-06	0	2.995e-05	2.3e-07	9e-08	.	.	2.995e-05	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.148	0.32675	T	0.008	0.14655	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-1.78	0.83737	D	0.26	0.04380	N	0.122	0.12341	-0.9156	0.46142	T	0.231	0.59719	T	8	0.06294978	0.08127	T	0.008929	0.23535	T	0.111	0.31313	0.275	0.22687	0.043077524339	0.03247	0.01847093704425622	0.01801	1.60464414724	0.88762	0.31007373333	0.11918	T	6.78E-4	0.00299	T	-0.199286	0.20907	T	-0.524037	0.19887	T	0.0761723370811587	0.09491	T	0.458654	0.13238	T	0.025646038	0.01527	0.030726915	0.01564	0.025646038	0.01526	0.030726915	0.01564	-4.118	0.25555	T	.	.	0.098	0.16231	B	.;.	.;.	0.930248	0.13055	9.558	0.44436016249816679	0.03416	0.01907	0.05839	N	AEFI	0.040686	0.06085	N	-1.16110931591431	0.05599	0.2556854	-1.2260014101073	0.05495	0.261984	1.18564166296845E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.821	0.821	0.17938	-0.115000	0.10713	-12.433000	0.00525	0.471000	0.21939	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.0:0.0:1.0	3.939	0.08817	829	0.39537	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2396.98	38	chr11	89804286	.	T	C	2396.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.097e+00;DP=939;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=41.82;MQRankSum=-2.118e+00;QD=11.52;ReadPosRankSum=-3.530e-01;SOR=0.689	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1426	20	0	1	0
chr11	89870773	89870773	G	A	exonic	TRIM64B	.	stopgain	TRIM64B:NM_001164397:exon6:c.C1198T:p.Q400X,	.	.	1	224	1	0	0	1	0.00222717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.982	D	.	.	.	.	.	.	.	.	.	2.527	14.41	-4.4	-0.887	-1.347	3.799	.	.	.	0.000399361	9.696e-05	0	0	0	0	0.0002	0	0	0.0001153	3	26028	rs547495938	0.0002	0.0002	0.0001	0.0002	0.0014	0.0001	0.0001	0.0007	0.0005	9.501e-05	0.0003	0	0	2.022e-05	0.0014	0.0001	0.0003	0.0004	0.0001	0.0001	0.0001	0.0001	0.0003	8.16e-05	6.717e-05	0.0001	7.892e-05	2.405e-05	0	0.0003	0	0	9.406e-05	0.0034	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.982416	0.39889	D	.	.	.	.	.	.	.	.	.	0.063	0.03502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0165442	0.49344	T	0.0473265	0.73407	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	3.147317	0.42591	21.6	0.93170317719738782	0.22827	0.00279	0.01508	N	AEFI	0.014329	0.00223	N	-0.152931093926703	0.35111	2.012552	-0.632407615541668	0.18662	0.9979648	1.03772553826697E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.2	-4.4	0.03349	-1.579000	0.02227	-11.334000	0.00614	0.306000	0.19039	0.000000	0.06391	0.000000	0.08366	0.194000	0.21720	0.0:0.3443:0.294:0.3617	3.799	0.08268	725	0.54935	SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1303.98	33	chr11	89870773	.	G	A	1303.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.318e+00;DP=963;ExcessHet=0.0000;FS=3.036;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.00;MQRankSum=-1.229e+00;QD=4.42;ReadPosRankSum=-7.970e-01;SOR=0.907	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1188	20	0	1	0
chr11	89873277	89873277	A	G	exonic	TRIM64B	.	nonsynonymous SNV	TRIM64B:NM_001164397:exon4:c.T749C:p.V250A,	.	.	442	1079	1	0	0	1	0.000463177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	1.1	L	3.45	T	-0.946	T	0.002	T	0.087	-0.279	2.664	-1.33	-0.375	1.298	1.545	0.025	.	.	0.0157748	0.0074	0	0	0.0839	0.0397	0.0012	0.0248	0.0038	0.0037652	98	26028	rs145567554	0.0033	0.0036	0.0033	0.0034	0.0636	0.0033	0.0032	0.0614	0.0605	3.166e-05	0.0002	0.0002	0.0636	0.0348	0.0004	0.0002	0.0039	0.0033	0.0053	0.0056	0.0037	0.0070	0.0625	0.0050	0.0049	0.0569	0.0547	2.403e-05	0	0.0001	0	0.0625	0.0382	0	0.0007	0.0028	0.0058	0.065	0.36310	T	0.278	0.21812	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.99	0.25021	L	3.45	0.05311	T	-2.42	0.53096	N	0.373	0.41459	-0.9456	0.41715	T	0.002	0.00556	T	6	0.0025877059	0.00039	T	.	.	.	0.025	0.05312	.	.	0.0138822411134	0.00435	0.041091665155754666	0.04054	.	.	0.723943293095	0.70622	T	0.057542	0.30595	T	-0.685569	0.00044	T	-0.717322	0.04926	T	0.0234809087666889	0.01081	T	0.19658	0.02172	T	0.04447285	0.07116	0.06927382	0.14574	0.04447285	0.07116	0.06927382	0.14574	-4.291	0.28051	T	.	.	0.203	0.42720	B	.	.	0.740486	0.11100	7.747	0.48607109496303819	0.04070	0.01695	0.05397	N	AEFI	0.021430	0.00953	N	-0.950278260407947	0.09686	0.4595183	-1.1502486527944	0.06764	0.3266707	1.45941072794058E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.48	-1.33	0.08693	1.250000	0.32453	-0.340000	0.09823	0.341000	0.19778	0.061000	0.21800	0.000000	0.08366	0.018000	0.11154	0.4855:0.0:0.2115:0.303	1.545	0.02409	725	0.54935	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	5904.98	36	chr11	89873277	.	A	G	5904.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.47;DP=1603;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.84;MQRankSum=-1.124e+01;QD=7.18;ReadPosRankSum=-1.050e-01;SOR=0.668	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1216	20	0	1	0
chr11	89911625	89911625	G	A	exonic	TRIM49D1;TRIM49D2	.	nonsynonymous SNV	TRIM49D2:NM_001105522:exon7:c.C1321T:p.P441S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0116206600767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.609e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.15355	T	0.368	0.34048	B	0.196	0.36635	B	.	.	.	.	.	.	.	.	.	.	0.23	0.59717	T	.	.	.	0.103	0.08786	.	.	.	.	.	.	.	0.10021639	0.18236	T	0.011621	0.29427	T	.	.	.	.	0.484329738948	0.48065	0.023997859099898197	0.02350	.	.	0.4497590065	0.31911	T	0.00337	0.02778	T	0.0885086	0.63021	D	-0.11064	0.62560	T	.	.	.	0.582942	0.21167	T	0.039336503	0.05411	0.12020047	0.29010	0.039336503	0.05410	0.12020047	0.29009	-1.161	0.01196	T	.	.	0.140	0.30713	B	.;.;.	.;.;.	0.231253	0.06126	2.570	0.85897972896946051	0.16182	0.00085	0.00571	N	AEFI	0.019251	0.00652	N	.	.	.	.	.	.	1.40883468105342E-5	0.02871	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	.	.	1.89	-3.78	0.04049	-0.574000	0.05960	-6.999000	0.01255	-0.603000	0.04608	0.000000	0.06391	0.000000	0.08366	0.107000	0.18608	0.4696:0.0:0.3222:0.2082	2.830	0.05159	741	0.52966	SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain;SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain;SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	70.32	7	chr11	89911625	.	G	A	70.32	.	AC=1;AF=0.250;AN=4;BaseQRankSum=0.090;DP=205;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2156;MLEAC=4;MLEAF=1.00;MQ=26.51;MQRankSum=1.15;QD=8.79;ReadPosRankSum=-6.190e-01;SOR=1.085	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:11,0:11:0:.:.:0,0,0	1	0	1	19
chr11	90086077	90086077	G	-	exonic	UBTFL1	.	frameshift deletion	UBTFL1:NM_001143975:exon1:c.128delG:p.G44Efs*3,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	.	9.514e-05	0	0	0	0	6.122e-05	0	0.0004	7.12e-05	11	154602	rs768662733	9.663e-05	9.512e-05	8.369e-05	0.0001	0.0007	8.326e-05	7.831e-05	0.0006	0.0005	3.003e-05	0	0	0	0	0	6.393e-05	0.0001	0.0007	6.923e-06	6.707e-06	0	1.43e-05	2.454e-05	0	0	.	.	2.454e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	1228.3	38	chr11	90086076	.	TG	T	1228.3	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.483;DP=1205;ExcessHet=0.0000;FS=2.529;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=43.53;MQRankSum=-3.592e+00;QD=11.37;ReadPosRankSum=0.363;SOR=1.007	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1345	19	0	1	1
chr11	90086160	90086160	G	A	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.G211A:p.G71S,	.	.	445	1075	2	0	0	2	0.000929368	.	.	2226937	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0001	0	0	0	0.0002	0.0015	0.0008	3.84e-05	1	26028	rs763880955	0.0003	0.0003	0.0002	0.0003	0.0033	0.0002	0.0002	0.0021	0.0017	3.05e-05	2.927e-05	0	0	0	0.0033	0.0002	0.0002	0.0010	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	2.476e-05	0	0.0003	0	0	0	0	0.0003	0	0.0002	.	.	.	0.426	0.13872	T	0.002	0.09854	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.55	0.14455	N	.	.	.	.	.	.	0.058	0.02964	.	.	.	.	.	.	.	0.020612895	0.00478	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.20816233725081623	0.20732	.	.	0.457246750593	0.32933	T	0.011489	0.10242	T	-0.34886	0.04799	T	-0.553617	0.16980	T	.	.	.	0.423058	0.11286	T	0.028026894	0.02078	0.061814096	0.11996	0.028026894	0.02078	0.061814096	0.11996	-3.457	0.15835	T	.	.	0.104	0.18991	B	.	.	-0.100610	0.03638	0.723	0.59816043362934268	0.06314	0.00260	0.01424	N	AEFI	.	.	.	.	.	.	.	.	.	1.06531468985442E-4	0.05123	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0721292	0.16917	1.06	-2.13	0.06745	-1.504000	0.02379	-10.809000	0.00663	-2.167000	0.00367	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3409:0.3285:0.1786:0.1521	0.960	0.01307	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	1122.33	38	chr11	90086160	.	G	A	1122.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.69;DP=891;ExcessHet=0.0000;FS=4.171;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=50.81;MQRankSum=-9.220e-01;QD=13.36;ReadPosRankSum=1.50;SOR=0.804	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1345	19	0	1	1
chr11	90086558	90086558	G	C	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.G609C:p.R203S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0016	0.0005	0.0005	0.0006	0.0005	0.0004	0.0006	0.0005	0.0003	0	0.0002	0	0	0.0006	0.0006	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.31427	T	0.02	0.18235	B	0.024	0.20255	B	.	.	.	.	.	.	.	1.845	0.48678	L	.	.	.	.	.	.	0.177	0.19055	.	.	.	.	.	.	.	0.07897973	0.12652	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	0.20041654349623925	0.19958	.	.	0.434744000435	0.29857	T	0.02618	0.19424	T	-0.0652308	0.42086	T	-0.331476	0.41304	T	.	.	.	0.258474	0.04102	T	0.19470586	0.41231	0.14969048	0.35334	0.19470586	0.41231	0.14969048	0.35333	-1.725	0.02295	T	.	.	0.158	0.34949	B	.	.	0.764181	0.11341	7.959	0.48982207246768944	0.04133	0.11168	0.16454	N	AEFI	.	.	.	.	.	.	.	.	.	1.24664943251294E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.06	1.06	0.19341	1.319000	0.33260	-1.431000	0.05455	0.311000	0.19140	0.058000	0.21700	0.000000	0.08366	0.034000	0.13613	0.0:0.0:0.6123:0.3877	4.372	0.10686	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	198.8	23	chr11	90086558	.	G	C	198.8	.	AC=3;AF=0.100;AN=30;BaseQRankSum=-1.641e+00;DP=659;ExcessHet=0.3672;FS=166.209;InbreedingCoeff=-0.1804;MLEAC=4;MLEAF=0.133;MQ=34.21;MQRankSum=-6.890e-01;QD=1.73;ReadPosRankSum=1.05;SOR=7.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:3:.:.:0,3,1062	12	0	3	6
chr11	90086559	90086559	T	C	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.T610C:p.S204P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0034	0.0014	0.0010	0.0015	0.0011	0.0011	0.0014	0.0014	0.0007	6.138e-05	0.0003	0.0002	0	0.0015	0.0015	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.30729	T	0.114	0.26387	B	0.055	0.25995	B	.	.	.	.	.	.	.	1.81	0.47622	L	.	.	.	.	.	.	0.184	0.19995	.	.	.	.	.	.	.	0.09870526	0.17865	T	.	.	.	.	.	.	.	0.0762999501168	0.06990	0.206982614041448	0.20614	.	.	0.471310138702	0.34860	T	0.051993	0.29036	T	-0.036046	0.46533	T	-0.289554	0.45819	T	.	.	.	0.212979	0.02609	T	0.15890183	0.35723	0.25574014	0.51261	0.15890183	0.35723	0.25574014	0.51260	-4.303	0.28219	T	.	.	0.081	0.08272	B	.	.	1.230443	0.16252	12.42	0.61155269003408275	0.06639	0.12260	0.17159	N	AEFI	.	.	.	.	.	.	.	.	.	2.32955600745505E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.06	1.06	0.19341	0.059000	0.14199	-0.821000	0.07295	0.305000	0.19019	0.018000	0.19461	0.000000	0.08366	0.048000	0.15020	0.0:0.0:0.0:1.0	6.324	0.20441	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05556	58.32	32	chr11	90086559	.	T	C	58.32	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-6.940e-01;DP=679;ExcessHet=0.1190;FS=67.569;InbreedingCoeff=-0.0843;MLEAC=1;MLEAF=0.028;MQ=33.62;MQRankSum=-3.700e-01;QD=0.70;ReadPosRankSum=1.39;SOR=6.272	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:47,0:47:50:.:.:0,50,1312	16	0	2	3
chr11	90086869	90086869	G	A	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.G920A:p.G307D,	.	.	566	937	16	3	0	22	0.0116034	.	.	2813651	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0260	0.0208	0.25	0	.	0.0326	0	0	0.0015368	40	26028	rs199875717	0.0084	0.0083	0.0084	0.0083	0.0302	0.0082	0.0081	0.0253	0.0234	0.0013	0.0084	0.0069	0	0.0015	0.0302	0.0099	0.0076	0.0044	0.0060	0.0062	0.0067	0.0052	0.0093	0.0056	0.0055	0.0086	0.0084	0.0014	0.0423	0.0065	0.0075	0	0.0008	0.0305	0.0093	0.0059	0.0031	.	.	.	0.692	0.05882	T	0.974	0.57829	D	0.497	0.47562	P	.	.	.	.	.	.	.	1.385	0.34509	L	.	.	.	.	.	.	0.064	0.03613	.	.	.	.	.	.	.	0.0019410849	0.00027	T	.	.	.	.	.	.	.	0.0482279557977	0.04254	0.1124879100645688	0.11177	.	.	0.672924399376	0.63254	T	0.023023	0.17644	T	-0.438589	0.01318	T	-0.407082	0.32562	T	.	.	.	0.425557	0.11413	T	0.106925346	0.25282	0.20098138	0.44057	0.106925346	0.25282	0.20098138	0.44056	-7.118	0.54890	T	.	.	0.375	0.58108	A	.	.	2.076388	0.26409	17.11	0.79514727965751031	0.12776	0.00824	0.03324	N	AEFI	.	.	.	.	.	.	.	.	.	1.97945905968477E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0431032	0.02392	0.999	0.999	0.18981	1.269000	0.32677	-2.534000	0.03638	0.311000	0.19140	0.007000	0.17678	0.000000	0.08366	0.463000	0.28185	0.0:0.0:1.0:0.0	5.393	0.15554	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.075	586.74	19	chr11	90086869	.	G	A	586.74	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-8.800e-02;DP=587;ExcessHet=0.0000;FS=1.227;InbreedingCoeff=0.6392;MLEAC=3;MLEAF=0.075;MQ=30.97;MQRankSum=1.81;QD=9.31;ReadPosRankSum=0.393;SOR=0.400	GT:AD:DP:GQ:PL	0/0:29,0:29:81:0,81,1215	18	1	1	1
chr11	92834959	92834959	C	T	exonic	FAT3	.	nonsynonymous SNV	FAT3:NM_001008781:exon15:c.C9961T:p.L3321F	.	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	1.0	D	0.999	D	.	.	1.000	D	2.415	M	0.5	T	-0.332	T	0.374	T	0.875	5.154	32	5.46	2.539	4.015	19.323	0.390	.	.	0.00199681	0.0024	0.0002	0.0001	0.0001	0	0	0.0013	0.0180	0.0018305	283	154602	rs536574701	0.0009	0.0009	0.0005	0.0012	0.0137	0.0008	0.0008	0.0131	0.0128	5.974e-05	0	0	2.52e-05	0	0	1.349e-05	0.0012	0.0137	0.0005	0.0005	0.0002	0.0007	0.0135	0.0004	0.0003	0.0108	0.0099	2.405e-05	0	0	0	0.0002	0	0	0	0.0009	0.0135	0.003	0.72154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	2.37	0.68279	M	0.5	0.55608	T	-3.67	0.70191	D	0.854	0.85027	-0.3317	0.74084	T	0.374	0.73235	T	9	0.012008369	0.00260	T	.	.	.	0.390	0.70603	0.626	0.76141	0.644451754692	0.64151	0.19162493607141526	0.19080	.	.	0.49831533432	0.38592	T	0.340969	0.70993	T	-0.0842843	0.39016	T	0.118479	0.78135	D	0.104251166920106	0.12818	T	.	.	.	0.416816	0.61880	0.5188466	0.72200	0.416816	0.61880	0.5188466	0.72201	-8.861	0.66798	D	.	.	0.330	0.55201	B	.;.	.;.	4.452645	0.69226	25.3	0.99888032813530514	0.96281	0.90928	0.52528	D	AEFBHCI	0.601479	0.59371	D	0.748039792776086	0.82775	7.847186	0.715573983267351	0.83562	8.05414	0.999999999999913	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.46	5.46	0.80021	4.087000	0.57395	5.921000	0.51166	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.963000	0.52385	0.0:1.0:0.0:0.0	19.323	0.94238	851	0.35303	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1033.98	34	chr11	92834959	.	C	T	1033.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.560;DP=780;ExcessHet=0.0000;FS=1.629;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.34;ReadPosRankSum=0.500;SOR=0.667	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1230	20	0	1	0
chr11	92836603	92836603	A	G	exonic	FAT3	.	nonsynonymous SNV	FAT3:NM_001008781:exon16:c.A10124G:p.Q3375R	.	.	436	1085	1	0	0	1	0.000460617	.	.	3198546	FAT3-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.002	B	.	.	1.000	D	0.195	N	4.68	T	-0.759	T	0.003	T	0.2	0.660	7.539	4.07	2.090	1.811	9.350	0.069	.	0.0003	0.00379393	0.0028	0.0009	0.0211	0.0092	0	4.504e-05	0.0011	0.0003	0.0025291	391	154602	rs76958954	0.0009	0.0009	0.0010	0.0008	0.0179	0.0009	0.0008	0.0169	0.0165	0.0002	0.0179	0	0.0095	5.618e-05	0	2.339e-05	0.0011	0.0003	0.0015	0.0015	0.0015	0.0016	0.0101	0.0014	0.0013	0.0088	0.0083	0.0007	0	0.0101	0	0.0085	0	0	1.47e-05	0.0009	0.0002	0.515	0.07378	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.974	0.25532	N	0.27	0.09956	N	4.68	0.01715	T	-0.18	0.09796	N	0.267	0.30233	-0.7590	0.57460	T	0.003	0.00929	T	9	0.006727904	0.00153	T	.	.	.	0.069	0.20116	.	.	0.110392049598	0.10638	0.256163921911294	0.25530	.	.	0.362449079752	0.19743	T	0.035938	0.23912	T	-0.594107	0.00158	T	-0.611234	0.11885	T	0.00471803560030105	0.00050	T	.	.	.	0.087120816	0.20275	0.10465075	0.25140	0.087120816	0.20274	0.10465075	0.25139	-3.83	0.21253	T	.	.	0.072	0.04277	B	.;.	.;.	1.895075	0.24068	16.26	0.95924150712293588	0.28195	0.87378	0.46899	D	AEFI	0.385528	0.46624	N	-0.404469056606693	0.25313	1.373128	-0.203939650874836	0.31394	1.776311	0.980574336127304	0.30152	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.2	4.07	0.46726	2.540000	0.45386	5.954000	0.51702	0.756000	0.94297	0.997000	0.40164	1.000000	0.68203	0.810000	0.38174	0.919:0.0:0.081:0.0	9.350	0.37294	845	0.36510	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1199.98	37	chr11	92836603	.	A	G	1199.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.128;DP=818;ExcessHet=0.0000;FS=2.327;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.76;ReadPosRankSum=1.32;SOR=0.472	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1277	20	0	1	0
chr11	92883327	92883327	G	A	exonic	FAT3	.	nonsynonymous SNV	FAT3:NM_001008781:exon24:c.G12871A:p.A4291T	.	.	427	1090	5	0	0	5	0.00228833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.932	P	0.263	B	.	.	1.000	D	1.5	L	-0.79	T	-0.409	T	0.403	T	0.099	2.557	14.51	3.54	0.657	1.700	8.030	0.117	0.0564082926914	.	.	7.008e-05	0	0	0	0	0	0	0.0005	5.17e-05	8	154602	rs756553194	5.277e-05	5.336e-05	3.136e-05	7.44e-05	0.0005	4.285e-05	3.96e-05	0.0004	0.0003	0	0	0	0	0	0.0004	2.519e-05	4.979e-05	0.0005	3.943e-05	3.94e-05	3.854e-05	4.035e-05	0.0004	1.715e-05	1.129e-05	7.276e-05	3.024e-05	0	0	0	0	0	0	0	5.88e-05	0	0.0004	0.081	0.58626	T	0.015	0.61642	D	0.013	0.16609	B	0.002	0.06944	B	.	.	.	.	0.540768	0.32052	D	1.1	0.28011	L	-0.79	0.85542	T	-0.4	0.15379	N	0.327	0.36779	-0.4087	0.71752	T	0.403	0.75345	T	9	0.08283183	0.13713	T	0.056408	0.66592	D	0.117	0.32689	.	.	0.394843243715	0.39102	0.41165908933856704	0.41081	.	.	0.597300171852	0.52523	T	0.043276	0.26449	T	-0.323934	0.06581	T	-0.366826	0.37260	T	0.0956183448433876	0.11868	T	.	.	.	0.047216397	0.08035	0.08888413	0.20752	0.047216397	0.08035	0.08888413	0.20751	-3.605	0.17929	T	.	.	0.081	0.08657	B	.;.;.	.;.;.	2.479864	0.31973	18.90	0.99352979349330162	0.60656	0.70046	0.34430	D	AEFBHCI	0.185833	0.31315	N	-0.223378050240857	0.32175	1.81182	-0.205397258784875	0.31341	1.772822	0.996719424988892	0.34950	0.533608	0.22052	0	0.59043	0.45803	0	0.685742	0.62368	0	0.613276	0.41899	0	.	.	5.42	3.54	0.39650	1.772000	0.38182	2.878000	0.35310	0.676000	0.76740	0.954000	0.33273	0.999000	0.35428	0.620000	0.31896	0.0724:0.0:0.6431:0.2845	8.030	0.29619	701	0.57775	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1881.98	41	chr11	92883327	.	G	A	1881.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.266e+00;DP=925;ExcessHet=0.0000;FS=3.382;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.82;ReadPosRankSum=0.250;SOR=0.443	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	20	0	1	0
chr11	92890785	92890785	A	G	exonic	FAT3	.	nonsynonymous SNV	FAT3:NM_001008781:exon26:c.A13346G:p.D4449G	.	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.0	B	0.0	B	.	.	1.000	D	0.145	N	1.75	T	-1.072	T	0.031	T	0.134	1.311	10.30	-0.546	-0.110	0.071	9.728	0.026	0.00821650117094	0.0005	0.000199681	0.0005	0.0001	0	0	0	0.0008	0	0.0004	0.0004722	73	154602	rs200705741	0.0006	0.0006	0.0006	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	5.974e-05	0	0	2.519e-05	0.0001	0.0002	0.0007	0.0003	0.0005	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	9.648e-05	0	6.545e-05	0	0	0	0	0.0006	0	0.0006	0.287	0.15613	T	0.797	0.04104	T	.	.	.	.	.	.	.	.	.	.	0.880829	0.31529	N	.	.	.	1.75	0.26152	T	-0.19	0.15178	N	0.093	0.11626	-1.0723	0.08915	T	0.031	0.13199	T	9	0.011312038	0.00248	T	0.008217	0.21776	T	0.026	0.05648	.	.	0.143184338766	0.13958	0.38288039528817996	0.38203	.	.	0.359701454639	0.19342	T	0.307443	0.67959	T	-0.516389	0.00462	T	-0.603689	0.12503	T	0.00627841899703159	0.00070	T	.	.	.	0.060437307	0.12401	0.07412357	0.16182	0.060437307	0.12400	0.07412357	0.16182	-2.974	0.09903	T	.	.	0.072	0.05800	B	.;.;.	.;.;.	1.262769	0.16608	12.65	0.93762368766245419	0.23709	0.18800	0.20407	N	AEFI	0.084428	0.17110	N	-0.77276359916956	0.14023	0.6952326	-0.680949129383873	0.17437	0.9272005	0.00527703207421042	0.10885	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.66	-0.546	0.11248	1.215000	0.32035	2.306000	0.32047	0.756000	0.94297	0.789000	0.29582	1.000000	0.68203	0.961000	0.51904	0.6409:0.0:0.3591:0.0	9.728	0.39508	699	0.57969	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2831.98	38	chr11	92890785	.	A	G	2831.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.201;DP=952;ExcessHet=0.0000;FS=0.531;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.88;ReadPosRankSum=-5.470e-01;SOR=0.779	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr11	93370100	93370100	G	C	exonic	DEUP1	.	nonsynonymous SNV	DEUP1:NM_181645:exon6:c.G460C:p.D154H,	.	.	446	1073	3	0	0	3	0.001396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.994	D	0.000	D	1.000	D	1.78	L	1.93	T	-0.920	T	0.156	T	0.889	4.131	21.3	5.5	2.584	6.201	18.413	0.243	0.0153252250419	.	0.000798722	0.0009	0	0.0001	0	0	0.0003	0	0.0052	0.0005498	85	154602	rs530435017	0.0003	0.0003	0.0002	0.0005	0.0044	0.0003	0.0003	0.0040	0.0039	3.006e-05	6.811e-05	0	0	0	0.0023	6.78e-05	0.0003	0.0044	0.0002	0.0002	0.0002	0.0002	0.0033	0.0001	0.0001	0.0021	0.0017	0	0	0	0	0	0	0.0034	0.0002	0.0005	0.0033	0.002	0.72154	D	0.013	0.63918	D	1.0	0.90584	D	0.991	0.79672	D	0.000015	0.62929	D	0.069788	0.999352	0.46766	D	2.175	0.60977	M	1.93	0.22881	T	-3.06	0.63901	D	0.744	0.76111	-0.9198	0.45581	T	0.156	0.48824	T	10	0.0105677545	0.00235	T	0.015325	0.35999	T	0.243	0.54921	0.132	0.03662	0.516106911764	0.51253	0.3527545360203853	0.35189	0.176979797183	0.19917	0.676907420158	0.63826	T	0.166543	0.51282	T	-0.133978	0.30855	T	0.0350404	0.72606	D	0.1253344589724	0.14944	T	0.89491	0.65300	D	0.6133267	0.73406	0.6620582	0.80195	0.6133267	0.73407	0.6620582	0.80196	-6.292	0.48658	T	.	.	0.671	0.77255	P	.;.;.;.	.;.;.;.	4.863370	0.79599	27.1	0.99560200373940178	0.71707	0.97965	0.78484	D	AEFBI	0.755375	0.69496	D	0.746421382133822	0.82671	7.820593	0.743134228562716	0.85641	8.642238	0.780320994261746	0.23830	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.5	5.5	0.81386	6.312000	0.72804	11.620000	0.93612	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.413	0.90504	639	0.64210	Centrosomal protein Cep63/Deup1, N-terminal;Centrosomal protein Cep63/Deup1, N-terminal;Centrosomal protein Cep63/Deup1, N-terminal;Centrosomal protein Cep63/Deup1, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	720.98	33	chr11	93370100	.	G	C	720.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.140e-01;DP=766;ExcessHet=0.0000;FS=3.505;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=-8.880e-01;SOR=0.823	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1365	20	0	1	0
chr11	93370164	93370164	C	T	exonic	DEUP1	.	nonsynonymous SNV	DEUP1:NM_181645:exon6:c.C524T:p.S175F,	.	.	452	1047	20	3	0	26	0.0122642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.981	D	0.000	D	1.000	D	1.845	L	1.94	T	-1.016	T	0.097	T	0.728	4.122	21.3	5.5	2.584	3.401	18.413	0.183	.	0.0072	0.00339457	0.0102	0.0026	0.0103	0	0.0030	0.0116	0.0241	0.0167	0.0066881	1034	154602	rs34205920	0.0088	0.0090	0.0085	0.0090	0.0153	0.0086	0.0086	0.0146	0.0144	0.0012	0.0063	0.0171	0	0.0021	0.0065	0.0090	0.0093	0.0153	0.0066	0.0066	0.0070	0.0061	0.0143	0.0062	0.0061	0.0116	0.0106	0.0017	0.0461	0.0076	0.0164	0.0002	0.0019	0.0136	0.0089	0.0071	0.0143	0.005	0.78490	D	0.012	0.64786	D	0.999	0.77913	D	0.972	0.72692	D	0.000059	0.53742	D	0.081678	0.987964	0.40680	D	2.125	0.59049	M	1.94	0.22678	T	-2.91	0.62518	D	0.416	0.45615	-1.0156	0.25143	T	0.097	0.36496	T	10	0.008488923	0.00192	T	.	.	.	0.183	0.45592	.	.	0.643164361049	0.64021	0.39280954524381106	0.39195	0.17326477445	0.19515	0.562373280525	0.47602	T	0.162927	0.50778	T	-0.302329	0.08441	T	-0.195375	0.55084	T	0.0177573481128435	0.00505	T	0.913309	0.70392	D	0.55491143	0.70229	0.58325815	0.75838	0.55491143	0.70230	0.58325815	0.75839	-7.158	0.55179	T	.	.	0.243	0.53891	B	.;.;.;.	.;.;.;.	4.526798	0.71028	25.6	0.9979570481708312	0.88106	0.92133	0.55018	D	AEFDBI	0.520851	0.54554	D	0.66466072990148	0.77321	6.652248	0.655063634552734	0.78989	6.98842	0.780320994261746	0.23830	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.5	5.5	0.81386	3.471000	0.52871	7.543000	0.60123	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.413	0.90504	639	0.64210	Centrosomal protein Cep63/Deup1, N-terminal;Centrosomal protein Cep63/Deup1, N-terminal;Centrosomal protein Cep63/Deup1, N-terminal;Centrosomal protein Cep63/Deup1, N-terminal	C11orf54	Thyroid	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1141.98	33	chr11	93370164	.	C	T	1141.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.459;DP=848;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.22;ReadPosRankSum=0.286;SOR=0.693	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1365	20	0	1	0
chr11	93408376	93408376	C	A	exonic	DEUP1	.	nonsynonymous SNV	DEUP1:NM_181645:exon12:c.C1472A:p.T491K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.355	B	0.08	B	0.542	N	1.000	N	1.355	L	1.99	T	-1.000	T	0.034	T	0.158	-0.463	1.861	2.98	0.368	0.361	3.322	0.007	0.00780663914303	.	0.000199681	0.0001	0	0	0	0	0.0001	0	0.0002	4.53e-05	7	154602	rs542672676	1.621e-05	1.915e-05	6.971e-06	2.566e-05	0.0002	1.08e-05	9.02e-06	9.517e-05	7.539e-05	0	0	0	2.648e-05	0	0	7.344e-06	1.698e-05	0.0002	6.575e-05	6.564e-05	9.002e-05	4.036e-05	0.0004	3.519e-05	2.618e-05	7.301e-05	3.033e-05	0	0	0	0	0.0002	0	0.0068	4.414e-05	0.0009	0.0004	0.014	0.53172	D	0.386	0.15698	T	0.355	0.33731	B	0.049	0.25116	B	0.541714	0.11529	N	0.810255	1	0.08975	N	1.935	0.51832	L	1.99	0.21666	T	-0.85	0.23156	N	0.136	0.13341	-0.9995	0.30058	T	0.034	0.14596	T	10	0.037932158	0.02179	T	0.007807	0.20720	T	0.007	0.00512	0.304	0.27325	0.136095386433	0.13204	0.19972160201308287	0.19889	0.0336267795191	0.03527	0.276614189148	0.07025	T	0.001776	0.18216	T	-0.432569	0.01430	T	-0.594704	0.13261	T	0.244092270731926	0.22606	T	0.712529	0.32403	T	0.06622006	0.14226	0.06345969	0.12575	0.06622006	0.14226	0.06345969	0.12575	-3.386	0.14869	T	.	.	0.128	0.27252	B	.;.;.	.;.;.	1.606049	0.20528	14.79	0.59774966402405527	0.06304	0.09740	0.15427	N	AEFI	0.091660	0.18563	N	-0.840055639472321	0.12294	0.5984505	-0.851617712718111	0.13249	0.6862491	4.12300169883868E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.96	2.98	0.33575	0.361000	0.20003	0.197000	0.15809	-0.176000	0.10722	0.250000	0.24849	0.000000	0.08366	0.665000	0.33109	0.1387:0.5725:0.1342:0.1546	3.322	0.06639	420	0.81451	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	754.98	35	chr11	93408376	.	C	A	754.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.11;DP=766;ExcessHet=0.0000;FS=4.890;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=-1.680e-01;SOR=1.307	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1250	20	0	1	0
chr11	93697644	93697644	A	G	exonic	CEP295	.	nonsynonymous SNV	CEP295:NM_033395:exon15:c.A2732G:p.Q911R,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.019	B	0.022	B	0.540	N	1.000	N	0.975	L	1.83	T	-1.009	T	0.040	T	0.068	1.154	9.701	1.45	0.136	0.576	3.415	0.034	0.0116904501819	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.716e-06	5.472e-06	5.64e-06	5.795e-06	0.0004	2.46e-06	1.78e-06	6.161e-05	2.547e-05	0	0	0	0	0	0.0004	5.561e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.499	0.11227	T	0.019	0.17989	B	0.022	0.19653	B	0.539802	0.11548	N	0.761213	1	0.08975	N	.	.	.	1.83	0.24841	T	-1.86	0.43524	N	0.054	0.02559	-1.0092	0.27167	T	0.040	0.17404	T	10	0.050759315	0.04857	T	0.01169	0.29566	T	0.034	0.08419	0.238	0.16912	0.0138822411134	0.00435	0.04784306628277062	0.04727	0.107495780972	0.12131	0.217944964767	0.01195	T	0.035861	0.23881	T	-0.291492	0.09486	T	-0.656485	0.08506	T	0.0701209240214943	0.08668	T	0.565643	0.19997	T	0.073977225	0.16570	0.09226551	0.21734	0.073977225	0.16570	0.09226551	0.21733	-6.596	0.51022	T	.	.	0.083	0.08997	B	.	.	0.731530	0.11007	7.666	0.982837908564416	0.39879	0.08871	0.14734	N	AEFBI	0.068902	0.13612	N	-0.882031631292552	0.11271	0.542989	-0.908453483280986	0.11894	0.6087541	0.00195280880475044	0.09036	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.15	1.45	0.21708	0.560000	0.23204	1.650000	0.27840	0.756000	0.94297	0.049000	0.21372	0.374000	0.24583	0.263000	0.23594	0.6513:0.0:0.1819:0.1668	3.415	0.06948	834	0.38640	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1572.98	40	chr11	93697644	.	A	G	1572.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.345e+00;DP=857;ExcessHet=0.0000;FS=1.341;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=-4.070e-01;SOR=0.854	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	20	0	1	0
chr11	93699651	93699651	G	A	exonic	CEP295	.	nonsynonymous SNV	CEP295:NM_033395:exon15:c.G4739A:p.R1580H,	.	.	.	.	.	.	.	.	.	.	.	713254	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.489	P	0.007	B	0.932	N	1.000	N	0	N	2.13	T	-1.017	T	0.019	T	0.227	0.013	4.079	-0.647	-0.047	-0.147	4.584	0.005	0.0161673775141	0.0004	.	0.0016	0	0	0	0.0055	0.0028	0	0.0001	0.0003105	48	154602	rs202195781	0.0016	0.0016	0.0015	0.0017	0.0018	0.0016	0.0015	0.0017	0.0017	0.0003	0.0006	0.0002	0	0.0043	0.0004	0.0018	0.0013	0.0003	0.0013	0.0013	0.0014	0.0012	0.0023	0.0012	0.0011	0.0020	0.0019	2.406e-05	0	0.0002	0	0	0.0031	0	0.0023	0.0019	0	0.021	0.49117	D	0.281	0.21612	T	0.489	0.36925	P	0.007	0.12992	B	0.931861	0.07541	N	1.040950	1	0.08975	N	.	.	.	2.13	0.19588	T	0.13	0.05503	N	0.068	0.04072	-1.0166	0.24819	T	0.019	0.08173	T	10	0.0057857037	0.00129	T	0.016167	0.37293	T	0.005	0.00259	.	.	0.0138822411134	0.00435	0.053132961293230134	0.05255	0.103024876547	0.11653	0.220037311316	0.01312	T	0.00526	0.04708	T	-0.594678	0.00157	T	-0.626998	0.10643	T	0.0197853442473981	0.00680	T	0.321368	0.06521	T	0.034950886	0.04022	0.031583913	0.01768	0.034950886	0.04022	0.031583913	0.01768	-2.734	0.07593	T	.	.	0.088	0.11845	B	.	.	1.122897	0.15086	11.58	0.81130710269825457	0.13534	0.03395	0.08508	N	AEFBI	0.040712	0.06093	N	-1.12670761669533	0.06172	0.2834006	-1.17828875029594	0.06273	0.3014731	0.0392426421148575	0.14385	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.63	-0.647	0.10892	0.024000	0.13447	-1.246000	0.05919	-0.231000	0.07715	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4156:0.3095:0.2749	4.584	0.11668	834	0.38640	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2309.98	40	chr11	93699651	.	G	A	2309.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.79;DP=913;ExcessHet=0.0000;FS=1.162;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=-1.489e+00;SOR=0.578	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr11	93706835	93706835	C	T	exonic	CEP295	.	nonsynonymous SNV	CEP295:NM_033395:exon18:c.C5687T:p.P1896L,	.	.	429	1087	6	0	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.628	P	0.063	B	0.644	N	1.000	N	1.32	L	1.57	T	-1.019	T	0.028	T	0.241	3.012	16.05	2.96	1.289	0.597	4.998	0.046	.	0.0007	0.00638978	0.0043	0.0023	0	0.0225	0	0.0007	0.0083	0.0083	0.0009702	150	154602	rs149280308	0.0010	0.0009	0.0008	0.0011	0.0151	0.0009	0.0009	0.0140	0.0136	0.0006	0.0001	0.0011	0.0151	2.032e-05	0.0004	9.277e-05	0.0014	0.0075	0.0013	0.0013	0.0010	0.0015	0.0174	0.0011	0.0011	0.0145	0.0134	0.0008	0	0.0002	0.0009	0.0174	0	0	0.0002	0	0.0091	0.003	0.68238	D	0.014	0.63109	D	0.628	0.40146	P	0.063	0.27082	B	0.644340	0.05886	N	1.252410	1	0.08975	N	.	.	.	1.57	0.29342	T	-2.71	0.90371	D	0.098	0.07949	-1.0193	0.23943	T	0.028	0.11926	T	10	0.0043031275	0.00087	T	.	.	.	0.046	0.12618	.	.	0.126345400529	0.12197	0.052836663715717595	0.05225	0.119112823779	0.13412	0.236834675074	0.02512	T	0.061598	0.44768	T	-0.526236	0.00404	T	-0.516354	0.20664	T	0.0169105972932362	0.00443	T	0.692831	0.30243	T	0.049719047	0.08872	0.08288143	0.18950	0.049719047	0.08871	0.08288143	0.18949	-3.983	0.23548	T	.	.	0.108	0.31906	B	.;.;.	.;.;.	1.394752	0.18080	13.54	0.98494912389534894	0.42144	0.02845	0.07598	N	AEFBI	0.030862	0.03186	N	-0.495069816671846	0.22241	1.186232	-0.573735770833667	0.20179	1.086008	2.68716967240464E-4	0.06244	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.14	2.96	0.33383	0.617000	0.24053	1.472000	0.26760	0.599000	0.40250	0.001000	0.13787	0.004000	0.18990	0.003000	0.05239	0.2604:0.6333:0.0:0.1063	4.998	0.13594	833	0.38804	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1157.98	33	chr11	93706835	.	C	T	1157.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.052;DP=764;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.16;ReadPosRankSum=0.218;SOR=0.687	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1038	20	0	1	0
chr11	94104605	94104605	C	A	exonic	HEPHL1	.	nonsynonymous SNV	HEPHL1:NM_001098672:exon16:c.C2760A:p.D920E,	.	.	439	1030	50	3	0	56	0.026465	.	.	3213399	HEPHL1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.33	T	0.955	P	0.612	P	0.000	D	0.865	N	1.37	L	-5.07	D	0.667	D	0.858	D	0.611	2.410	14.02	-1.63	-0.498	-0.226	11.957	0.573	.	0.0035	0.00579073	0.0081	0.0005	0.0039	0.0001	0.0082	0.0060	0.0156	0.0277	0.0071539	1106	154602	rs148114445	0.0066	0.0066	0.0058	0.0074	0.0279	0.0065	0.0065	0.0270	0.0266	0.0008	0.0034	0.0158	0.0001	0.0094	0.0125	0.0051	0.0077	0.0279	0.0047	0.0047	0.0044	0.0050	0.0266	0.0044	0.0043	0.0229	0.0214	0.0004	0	0.0031	0.0150	0.0004	0.0098	0.0238	0.0051	0.0057	0.0266	0.251	0.17069	T	0.421	0.14075	T	0.955	0.54515	P	0.612	0.51145	P	0.000000	0.84330	D	0.000000	0.864956	0.28297	N	2.56	0.74772	M	-5.07	0.98648	D	-0.93	0.24898	N	0.458	0.49511	0.667	0.92763	D	0.858	0.95278	D	10	0.0048802793	0.00104	T	.	.	.	0.573	0.82686	0.373	0.38503	0.312001716656	0.30816	0.649742882392639	0.64910	0.264314548464	0.28980	0.54286056757	0.44850	T	0.008359	0.07680	T	-0.169378	0.25330	T	0.00487325	0.70652	D	0.0454317492620898	0.04681	T	0.763224	0.38939	T	0.11625681	0.27423	0.12888005	0.30998	0.11625681	0.27423	0.12888005	0.30997	-7.378	0.56750	T	.	.	0.717	0.73646	P	.	.	1.523259	0.19552	14.32	0.99176371962165932	0.54556	0.63278	0.32040	D	AEFBI	0.270150	0.38628	N	-0.500907730539434	0.22051	1.174723	-0.612804354904618	0.19165	1.027009	0.400691816930855	0.20128	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.66	-1.63	0.07900	-0.267000	0.08648	-1.019000	0.06586	-0.170000	0.11276	0.545000	0.27306	0.000000	0.08366	0.948000	0.49324	0.0:0.3992:0.0:0.6008	11.957	0.52272	725	0.54935	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3926.11	34	chr11	94104605	.	C	A	3926.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.19;DP=1004;ExcessHet=0.1072;FS=0.390;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=-2.990e-01;SOR=0.670	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1220	19	0	2	0
chr11	94111823	94111823	C	T	exonic	HEPHL1	.	nonsynonymous SNV	HEPHL1:NM_001098672:exon20:c.C3409T:p.L1137F,	.	.	428	1080	14	0	0	14	0.00643974	.	.	3220374	HEPHL1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.16	T	0.998	D	0.991	D	.	.	1.000	N	0.895	L	-5.83	D	0.014	D	0.613	D	0.276	0.353	5.918	3.59	0.691	0.695	10.372	0.310	.	0.0004	0.0161741	0.0066	0.0011	0.0002	0.0785	0	0.0001	0.0052	0.0036	0.0057502	889	154602	rs117805838	0.0026	0.0026	0.0027	0.0026	0.0755	0.0026	0.0025	0.0733	0.0724	0.0006	0.0002	0.0002	0.0755	0	0.0013	0.0001	0.0056	0.0028	0.0032	0.0032	0.0027	0.0037	0.0748	0.0030	0.0029	0.0687	0.0662	0.0012	0	0.0010	0	0.0748	0	0	0.0002	0.0028	0.0041	0.051	0.39334	T	0.08	0.41913	T	0.998	0.73220	D	0.991	0.79672	D	.	.	.	.	1	0.08975	N	0.895	0.22405	L	-5.83	0.99392	D	-0.85	0.23156	N	0.167	0.17691	0.014	0.82535	D	0.613	0.86301	D	9	0.0024302304	0.00036	T	.	.	.	0.310	0.63162	.	.	0.629215704067	0.62618	0.18254718032147818	0.18173	0.0413162352792	0.04434	0.379267841578	0.22152	T	0.01056	0.09523	T	-0.29428	0.09210	T	-0.137138	0.60365	T	0.0118397594587203	0.00184	T	0.490951	0.15096	T	0.04864536	0.08512	0.08717155	0.20246	0.04864536	0.08512	0.08717155	0.20245	-4.163	0.26214	T	.	.	0.061	0.01059	B	.	.	1.557255	0.19948	14.52	0.94565590466434357	0.25095	0.06385	0.12387	N	AEFDBIJ	0.051261	0.09041	N	-0.358489282906205	0.26961	1.475562	-0.50408002154046	0.22041	1.195282	0.999303037639399	0.39077	0.554377	0.28877	0	0.624306	0.53593	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.45	3.59	0.40253	0.650000	0.24544	2.689000	0.34074	-0.171000	0.11205	0.016000	0.19238	0.993000	0.31925	0.183000	0.21389	0.0:0.8395:0.0:0.1605	10.372	0.43243	712	0.56465	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3467.08	34	chr11	94111823	.	C	T	3467.08	.	AC=2;AF=0.048;AN=42;DP=805;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.52;SOR=1.274	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1283	20	1	0	0
chr11	94179924	94179924	G	A	exonic	PANX1	.	nonsynonymous SNV	PANX1:NM_015368:exon4:c.G868A:p.V290M,	.	.	431	1085	6	0	0	6	0.00275735	.	.	738360	not_provided|PANX1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.08	T	0.918	P	0.326	B	0.006	N	1.000	N	2.075	M	2.05	T	-1.047	T	0.045	T	0.244	1.167	9.749	1.32	0.242	-0.208	5.229	0.032	0.0110222883648	7.7e-05	0.000199681	0.0007	0	0	0.0001	0	0.0001	0	0.0053	0.0005821	90	154602	rs372103195	0.0003	0.0003	0.0002	0.0005	0.0049	0.0003	0.0003	0.0045	0.0043	5.983e-05	4.488e-05	0	7.567e-05	0	0.0016	2.883e-05	0.0002	0.0049	0.0001	0.0001	7.717e-05	0.0002	0.0037	9.152e-05	7.706e-05	0.0024	0.0020	0	0	0	0	0	0	0	4.412e-05	0	0.0037	0.081	0.33418	T	0.196	0.27943	T	0.918	0.50838	P	0.175	0.41929	B	0.005755	0.32538	N	0.325011	0.999996	0.08975	N	2.595	0.75868	M	2.05	0.20808	T	-0.9	0.24244	N	0.156	0.16168	-1.0466	0.15361	T	0.045	0.19275	T	10	0.0076358914	0.00173	T	0.011022	0.28208	T	0.032	0.07718	.	.	0.28798054836	0.28402	0.429757230708867	0.42892	0.218399245309	0.24377	0.413221895695	0.26903	T	0.095082	0.39549	T	-0.531053	0.00379	T	-0.534507	0.18839	T	0.0317671664764544	0.02268	T	0.89721	0.64041	D	0.08678744	0.20187	0.06343824	0.12565	0.08678744	0.20186	0.06343824	0.12564	-5.453	0.41426	T	0.1922320669498814	0.25251	0.108	0.22861	B	.;.	.;.	1.115884	0.15011	11.52	0.99586366202778143	0.73336	0.22523	0.21775	N	AEFDGBI	0.243538	0.36480	N	-0.424380923465198	0.24617	1.330474	-0.58735618036671	0.19821	1.065252	0.904620845716237	0.26183	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	1.32	0.20897	-0.222000	0.09195	1.596000	0.27557	0.676000	0.76740	0.000000	0.06391	0.880000	0.27694	0.052000	0.15357	0.0697:0.3906:0.3227:0.217	5.229	0.14732	642	0.63909	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3901.98	36	chr11	94179924	.	G	A	3901.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.34;DP=1057;ExcessHet=0.0000;FS=3.128;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=-1.061e+00;SOR=0.535	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1201	20	0	1	0
chr11	94307512	94307512	C	A	exonic	IZUMO1R	.	nonsynonymous SNV	IZUMO1R:NM_001199206:exon5:c.C573A:p.S191R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.245	B	0.222	B	0.295	N	0.797	N	1.87	L	-1.12	T	-0.600	T	0.330	T	0.508	1.591	11.28	0.033	0.208	0.140	4.426	0.022	0.0503972571708	.	.	8.284e-06	0	8.64e-05	0	0	0	0	0	6.5e-06	1	154602	rs762264181	4.79e-06	4.788e-06	2.723e-06	6.878e-06	6.708e-05	1.99e-06	1.28e-06	1.779e-05	8.93e-06	0	6.708e-05	0	0	0	0	1.799e-06	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.097	0.39190	T	0.245	0.31074	B	0.222	0.37884	B	0.295181	0.14697	N	0.713054	0.796681	0.29163	N	2.715	0.79425	M	-1.15	0.77964	T	-2.72	0.65283	D	0.4	0.44090	-0.6004	0.64801	T	0.330	0.69758	T	10	0.26244596	0.43713	T	0.050397	0.64223	D	0.321	0.64318	0.565	0.68633	0.233150807113	0.22925	0.8611858656415803	0.86082	0.0238746124903	0.02421	0.558987379074	0.47125	T	0.333223	0.70310	T	-0.136348	0.30474	T	-0.23666	0.51124	T	0.316603481769562	0.25684	T	0.678032	0.28700	T	0.16723579	0.37109	0.2057901	0.44764	0.16723579	0.37108	0.2057901	0.44763	-5.634	0.43102	T	.	.	0.405	0.59826	A	.;.	.;.	2.173104	0.27693	17.55	0.97934838279409009	0.36985	0.11509	0.16681	N	AEFDBI	0.077870	0.15698	N	-0.604281045431404	0.18814	0.9798512	-0.689376653617925	0.17225	0.9149867	0.00386996775982194	0.10312	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.33	0.033	0.13496	0.364000	0.20053	-0.697000	0.07812	0.549000	0.26987	0.261000	0.24959	0.000000	0.08366	0.040000	0.14268	0.1602:0.5488:0.0:0.291	4.426	0.10928	749	0.51929	Folate receptor-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	5582.11	36	chr11	94307512	.	C	A	5582.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.631e+00;DP=1145;ExcessHet=0.1072;FS=1.101;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=-6.070e-01;SOR=0.594	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1393	19	0	2	0
chr11	94420176	94420176	A	T	exonic	MRE11	.	nonsynonymous SNV	MRE11:NM_005590:exon19:c.T1992A:p.D664E	Ataxia-telangiectasia-like disorder, Autosomal recessive	.	60	1460	2	0	0	2	0.000684463	.	.	183486	Ataxia-telangiectasia-like_disorder_1|Hereditary_cancer-predisposing_syndrome|Ataxia-telangiectasia-like_disorder	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391,Orphanet:251347|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.33	T	0.506	P	0.131	B	0.001	N	1.000	D	0.57	N	-0.88	T	-0.434	T	0.163	T	0.247	-0.113	3.447	-11.1	-4.790	-2.810	18.182	0.259	0.0532914926222	.	.	8.32e-06	0	0	0	0	1.514e-05	0	0	6.5e-06	1	154602	rs778093337	2.583e-05	2.736e-05	2.646e-05	2.521e-05	0.0007	1.906e-05	1.664e-05	0.0002	0.0001	0	0	0	0	0	0.0007	1.739e-05	3.359e-05	0.0001	2.628e-05	2.627e-05	5.138e-05	0	4.411e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0.0005	0	0.059	0.37536	T	0.457	0.12704	T	0.018	0.37245	B	0.007	0.32951	B	0.000588	0.43095	N	0.205372	0.997381	0.22680	N	1.04	0.26193	L	-0.89	0.74896	T	-0.16	0.14390	N	0.226	0.33904	-0.4338	0.70939	T	0.163	0.49963	T	10	0.035371542	0.01783	T	0.053291	0.65412	D	0.259	0.57090	0.077	0.00572	0.397540356873	0.39371	0.06972769128910185	0.06910	0.081518929191	0.09173	0.474381804466	0.35284	T	0.066553	0.32976	T	-0.238187	0.15581	T	-0.398387	0.33573	T	0.0597301533724381	0.07126	T	0.589041	0.22108	T	0.0444385	0.07103	0.058696467	0.10888	0.0444385	0.07103	0.058696467	0.10888	-3.682	0.19052	T	.	.	0.080	0.20117	B	.;.;.;.	.;.;.;.	-1.607805	0.00236	0.004	0.59608077311271579	0.06264	0.01020	0.03837	N	AEFBI	0.053319	0.09597	N	-2.32417053940272	0.00040	0.001718942	-2.44227974892288	0.00031	0.001380289	0.999999982115602	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.53	-11.1	0.00116	-3.043000	0.00694	-5.529000	0.01686	-2.570000	0.00242	0.006000	0.17386	0.000000	0.08366	0.721000	0.34804	0.212:0.0:0.7079:0.0802	18.182	0.89713	899	0.25060	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	825.98	39	chr11	94420176	.	A	T	825.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.328;DP=781;ExcessHet=0.0000;FS=3.214;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=1.48;SOR=0.388	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr11	94478810	94478810	T	C	exonic	MRE11	.	nonsynonymous SNV	MRE11:NM_001330347:exon6:c.A469G:p.M157V	Ataxia-telangiectasia-like disorder, Autosomal recessive	.	0	224	1	1	0	3	0.00665188	.	.	152190	Hereditary_cancer-predisposing_syndrome|not_provided|Hereditary_breast_ovarian_cancer_syndrome|Ataxia-telangiectasia-like_disorder_1|Ataxia-telangiectasia-like_disorder	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391,Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.3	T	0.019	B	0.049	B	0.000	D	0.990	N	0.805	L	-1.32	T	-0.861	T	0.226	T	0.152	1.312	10.30	4.42	0.930	0.507	7.927	0.156	0.0532767714862	.	0.00119808	0.0002	9.621e-05	0	0.0020	0	0	0	6.062e-05	0.0001746	27	154602	rs147771140	0.0002	0.0002	0.0002	0.0002	0.0046	0.0001	0.0001	0.0040	0.0038	2.988e-05	8.946e-05	0	0.0046	0	0	2.878e-05	4.969e-05	9.276e-05	0.0001	0.0001	0.0001	6.712e-05	0.0027	6.506e-05	5.318e-05	0.0016	0.0013	0	0	6.537e-05	0	0.0027	0	0	1.47e-05	0	0	0.292	0.17821	T	0.269	0.22426	T	0.0	0.17989	B	0.002	0.25116	B	0.000475	0.44119	D	0.280361	0.990459	0.24169	N	0	0.06538	N	-1.32	0.79761	T	-0.23	0.13611	N	0.243	0.31478	-0.8613	0.51169	T	0.226	0.59007	T	10	0.010507375	0.00233	T	0.053277	0.65404	D	0.156	0.40720	.	.	0.516604699598	0.51303	0.28827614273214514	0.28740	0.0855303882618	0.09661	0.310985445976	0.12056	T	0.271632	0.64398	T	-0.405669	0.02124	T	-0.362755	0.37733	T	0.0140643556907489	0.00273	T	0.805419	0.47040	T	0.06948043	0.15226	0.097648405	0.23250	0.0662327	0.14232	0.11164829	0.26932	-2.456	0.05808	T	.	.	0.051	0.00533	B	.;.;.;.;.	.;.;.;.;.	0.965026	0.13415	9.925	0.93869662479309102	0.23879	0.32975	0.24716	N	AEFGBI	0.119322	0.23293	N	-0.526663318087286	0.21222	1.124617	-0.387138051057223	0.25380	1.395355	0.793980024125849	0.24064	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.54	4.42	0.52775	0.532000	0.22776	-1.274000	0.05845	0.597000	0.34315	0.158000	0.23769	0.000000	0.08366	0.991000	0.66497	0.0:0.0716:0.1373:0.7912	7.927	0.29043	877	0.30165	Calcineurin-like phosphoesterase domain, ApaH type;.;.;Calcineurin-like phosphoesterase domain, ApaH type;Calcineurin-like phosphoesterase domain, ApaH type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2695.98	35	chr11	94478810	.	T	C	2695.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.317e+00;DP=918;ExcessHet=0.0000;FS=1.052;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=0.877;SOR=0.612	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1299	20	0	1	0
chr11	94528131	94528131	G	A	exonic	C11orf97	.	nonsynonymous SNV	C11orf97:NM_001190462:exon3:c.G298A:p.G100S,	.	.	438	944	131	9	0	149	0.0731468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0107827	0.0327	0.0054	0.0106	0	0	0.0239	0.0379	0.0402	0.0043337	670	154602	rs12802057	0.0088	0.0084	0.0077	0.0099	0.0687	0.0087	0.0086	0.0631	0.0608	0.0066	0.0086	0.0279	0.0002	0.0008	0.0687	0.0062	0.0150	0.0377	0.0082	0.0082	0.0075	0.0090	0.0321	0.0079	0.0077	0.0280	0.0264	0.0056	0.0011	0.0098	0.0268	0.0002	0.0002	0.0442	0.0083	0.0194	0.0321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0038235784	0.00072	T	.	.	.	.	.	.	.	.	.	0.09051444811491477	0.08984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.520648	0.16939	T	0.046739276	0.07874	0.13153316	0.31583	0.046739276	0.07874	0.13153316	0.31582	-3.12	0.11527	T	.	.	0.066	0.02228	B	.	.	1.111347	0.14965	11.48	0.78473321330434909	0.12316	0.48366	0.28191	N	AEFBI	.	.	.	.	.	.	.	.	.	0.929341479701201	0.26965	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.340229	0.35942	5.56	0.771	0.17648	0.488000	0.22080	0.510000	0.19072	0.654000	0.53741	0.995000	0.38783	0.969000	0.29651	0.948000	0.49324	0.3869:0.0:0.6131:0.0	9.309	0.37057	859	0.33891	.	.	.	.	.	rs12802057	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	5153.68	46	chr11	94528131	.	G	A	5153.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.150e-01;DP=1256;ExcessHet=0.3300;FS=1.769;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.03;ReadPosRankSum=0.104;SOR=0.846	GT:AD:DP:GQ:PL	0/1:77,78:155:99:1855,0,1896	18	0	3	0
chr11	94544731	94544731	G	A	exonic	FUT4	.	nonsynonymous SNV	FUT4:NM_002033:exon1:c.G598A:p.G200R,	.	.	434	1073	13	2	0	17	0.00785945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.002	B	0.006	B	0.228	U	1.000	N	0.79	N	1.91	T	-0.985	T	0.023	T	0.236	1.382	10.55	1.37	0.059	-0.098	4.988	0.018	.	0.0050	0.00219649	0.0126	0.0016	0.0078	0	0.0213	0.0193	0.0132	0.0032	0.0048253	746	154602	rs201519706	0.0094	0.0092	0.0096	0.0091	0.0105	0.0092	0.0092	0.0104	0.0103	0.0012	0.0047	0.0197	2.705e-05	0.0081	0.0055	0.0105	0.0075	0.0025	0.0067	0.0067	0.0072	0.0062	0.0099	0.0064	0.0062	0.0093	0.0090	0.0019	0.0033	0.0058	0.0239	0	0.0061	0.0102	0.0099	0.0076	0.0017	0.346	0.12469	T	0.577	0.08594	T	0.002	0.09854	B	0.006	0.12133	B	0.228016	0.15985	U	0.578909	1	0.08975	N	1.61	0.41143	L	1.91	0.23283	T	-1.3	0.32590	N	0.081	0.05670	-0.9846	0.33927	T	0.023	0.09832	T	10	0.0037264526	0.00069	T	.	.	.	0.018	0.03083	0.469	0.54214	0.173771789658	0.16945	0.545966886776455	0.54522	1.07679982734	0.77000	0.794945120811	0.81194	T	0.037335	0.24438	T	-0.57537	0.00206	T	-0.589861	0.13677	T	0.00287349530812968	0.00030	T	0.540346	0.18307	T	0.04525807	0.07378	0.051566597	0.08325	0.04525807	0.07378	0.051566597	0.08325	-3.744	0.19970	T	.	.	0.109	0.20702	B	.	.	1.132314	0.15190	11.66	0.93142993099454197	0.22788	0.05029	0.10812	N	AEFDBHCI	0.101107	0.20315	N	-1.32369092715106	0.03406	0.1520741	-1.32616571478158	0.04095	0.1924414	0.999999902486384	0.74766	0.56387	0.32371	0	0.218748	0.04544	0	0.503968	0.08637	0	0.492483	0.08430	1	.	.	4.28	1.37	0.21200	0.479000	0.21938	3.085000	0.36255	-0.424000	0.05221	0.000000	0.06391	0.999000	0.35428	0.071000	0.16709	0.3476:0.1899:0.4626:0.0	4.988	0.13544	818	0.41518	Fucosyltransferase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1197.99	48	chr11	94544731	.	G	A	1197.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.204;DP=777;ExcessHet=0.0000;FS=6.762;InbreedingCoeff=-0.0252;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.32;ReadPosRankSum=1.54;SOR=1.781	GT:AD:DP:GQ:PL	0/0:42,0:42:25:0,25,996	20	0	1	0
chr11	94593554	94593554	A	G	exonic	PIWIL4	.	nonsynonymous SNV	PIWIL4:NM_152431:exon9:c.A1063G:p.M355V,	.	.	436	1043	42	1	0	44	0.0206573	.	.	702038	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.37	T	0.0	B	0.001	B	0.087	N	1.000	D	0.23	N	2.62	T	-0.958	T	0.008	T	0.076	-1.574	0.014	-0.778	0.019	-0.376	8.814	0.117	.	0.0067	0.00459265	0.0047	0.0129	0.0055	0	0.0003	0.0037	0.0088	0.0074	0.004586	709	154602	rs34492831	0.0039	0.0039	0.0037	0.0041	0.0189	0.0038	0.0037	0.0160	0.0150	0.0120	0.0049	0.0040	2.519e-05	0.0003	0.0189	0.0033	0.0059	0.0089	0.0061	0.0061	0.0060	0.0061	0.0129	0.0058	0.0056	0.0120	0.0116	0.0129	0.0011	0.0048	0.0032	0	0	0.0068	0.0036	0.0118	0.0066	0.791	0.03192	T	0.474	0.12107	T	0.0	0.02946	B	0.001	0.04355	B	0.087059	0.20554	N	0.422160	0.999746	0.20516	N	0.25	0.09762	N	2.62	0.12988	T	-0.62	0.18248	N	0.072	0.04547	-0.9581	0.39534	T	0.008	0.02884	T	10	0.008027405	0.00182	T	.	.	.	0.117	0.32689	.	.	0.15556083564	0.15200	0.33646312682960244	0.33559	0.292844032975	0.31705	0.303213775158	0.10881	T	0.049508	0.28327	T	-0.733065	0.00023	T	-0.814097	0.01575	T	0.000791278126423152	0.00007	T	0.668933	0.27772	T	0.054207113	0.10369	0.08011389	0.18094	0.054207113	0.10369	0.08011389	0.18093	-4.999	0.36829	T	.	.	0.050	0.00136	B	.	.	0.207442	0.05916	2.354	0.53700198470870886	0.04991	0.01050	0.03913	N	AEFI	0.025181	0.01684	N	-1.02090349749187	0.08170	0.3821699	-0.986236603951907	0.10094	0.5062335	0.74418407930807	0.23259	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.77	-0.778	0.10423	-0.376000	0.07522	1.074000	0.23831	-0.582000	0.04700	0.000000	0.06391	0.254000	0.23938	0.559000	0.30388	0.7495:0.0:0.2505:0.0	8.814	0.34144	793	0.45818	PAZ domain|PAZ domain|PAZ domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4484.11	62	chr11	94593554	.	A	G	4484.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.29;DP=1097;ExcessHet=0.1072;FS=2.639;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=16.31;ReadPosRankSum=0.876;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,114,1710	19	0	2	0
chr11	94618061	94618061	G	C	exonic	PIWIL4	.	nonsynonymous SNV	PIWIL4:NM_152431:exon17:c.G2122C:p.V708L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.924	P	0.649	P	0.001	D	0.906	D	1.1	L	1.33	T	-1.000	T	0.090	T	0.504	2.394	13.96	4.98	1.502	4.230	10.392	0.204	0.0106759789857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.34269	T	0.222	0.35840	T	0.924	0.51285	P	0.649	0.52426	P	0.000584	0.43095	D	0.099013	0.906029	0.36289	D	1.565	0.39561	L	1.33	0.35031	T	-1.68	0.46337	N	0.5	0.53269	-0.9999	0.29945	T	0.090	0.34436	T	10	0.60332495	0.67035	D	0.010676	0.27493	T	0.204	0.49076	0.676	0.81398	0.550418665841	0.54699	0.6398381622521458	0.63918	0.501449785389	0.48529	0.506306290627	0.39706	T	0.083303	0.37024	T	-0.0843602	0.39003	T	-0.358954	0.38173	T	0.838701367378235	0.49222	D	0.919808	0.78939	D	0.10559078	0.24966	0.147185	0.34841	0.10559078	0.24965	0.147185	0.34840	-5.331	0.40249	T	.	.	0.240	0.52459	B	.;.	.;.	2.332110	0.29874	18.26	0.99387829687996976	0.62202	0.97874	0.77779	D	AEFI	0.667277	0.63546	D	0.172925259269668	0.49901	3.185565	0.207008071808128	0.50237	3.217776	0.397544557011528	0.20101	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.89	4.98	0.65679	4.761000	0.61939	5.425000	0.48576	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.304000	0.24594	0.1517:0.0:0.8483:0.0	10.392	0.43358	793	0.45818	Piwi domain|Piwi domain|Piwi domain;Piwi domain|Piwi domain|Piwi domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.15	351.81	55	chr11	94618061	.	G	C	351.81	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-1.574e+00;DP=1213;ExcessHet=1.7912;FS=147.073;InbreedingCoeff=-0.2177;MLEAC=7;MLEAF=0.175;MQ=60.00;MQRankSum=0.00;QD=1.10;ReadPosRankSum=0.407;SOR=10.626	GT:AD:DP:GQ:PL	0/0:34,12:46:8:0,8,451	14	0	6	1
chr11	94998442	94998442	A	G	exonic	KDM4D	.	nonsynonymous SNV	KDM4D:NM_018039:exon3:c.A1070G:p.E357G,	.	.	426	1042	54	0	0	54	0.0252572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.986	D	0.717	P	0.000	U	1.000	N	1.59	L	1.46	T	-1.057	T	0.055	T	0.073	2.859	15.52	-1.5	-0.290	0.824	4.004	0.082	.	0.0037	0.00998403	0.0072	0.0097	0.0024	0.0002	0	0.0020	0.0188	0.0355	0.0063906	988	154602	rs76057256	0.0039	0.0039	0.0028	0.0050	0.0361	0.0038	0.0038	0.0351	0.0347	0.0100	0.0025	3.826e-05	0.0002	0.0001	0.0142	0.0016	0.0054	0.0361	0.0058	0.0058	0.0059	0.0056	0.0304	0.0054	0.0053	0.0264	0.0249	0.0111	0	0.0089	0.0003	0	9.411e-05	0.0102	0.0017	0.0066	0.0304	0.005	0.63226	D	0.075	0.42794	T	0.986	0.61523	D	0.717	0.54739	P	0.000006	0.62929	U	0.000000	1	0.08975	N	1.935	0.51832	L	1.46	0.32238	T	-5.57	0.86372	D	0.042	0.02559	-1.0566	0.12621	T	0.055	0.23224	T	10	0.004995674	0.00107	T	.	.	.	0.082	0.23913	.	.	0.372268306217	0.36840	0.7254151298995516	0.72485	0.691323969143	0.60588	0.365792542696	0.20226	T	0.341384	0.71029	T	-0.607426	0.00131	T	-0.618842	0.11275	T	0.0720550780844124	0.08936	T	0.242976	0.03512	T	0.41269726	0.61602	0.2966068	0.55694	0.41269726	0.61603	0.2966068	0.55693	-5.24	0.39346	T	.	.	0.061	0.01143	B	.;.;.	.;.;.	1.733267	0.22059	15.46	0.99500475937407351	0.67973	0.47774	0.28058	N	AEFDGBI	0.074009	0.14822	N	-0.296844974326509	0.29270	1.621704	-0.500331210384512	0.22145	1.201373	0.0135475313907863	0.12479	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	3.56	-1.5	0.08233	0.980000	0.29111	-1.299000	0.05779	0.658000	0.54486	0.756000	0.29198	0.000000	0.08366	0.140000	0.19946	0.5476:0.182:0.2704:0.0	4.004	0.09081	944	0.12746	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4503.11	34	chr11	94998442	.	A	G	4503.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.117;DP=1007;ExcessHet=0.1072;FS=1.303;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=0.376;SOR=0.610	GT:AD:DP:GQ:PL	0/1:74,80:154:99:2175,0,1889	19	0	2	0
chr11	95026213	95026213	A	G	exonic	KDM4E	.	nonsynonymous SNV	KDM4E:NM_001161630:exon1:c.A656G:p.H219R,	.	.	434	1083	5	0	0	5	0.00230309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	0.999	N	-2.88	N	-0.52	T	-0.917	T	0.042	T	0.093	-2.611	0	0.89	0.487	1.296	4.521	0.140	.	.	0.00479233	0.0041	0.0002	0.0003	0.0001	0	6.008e-05	0.0033	0.0290	0.0034734	537	154602	rs563454932	0.0018	0.0018	0.0010	0.0026	0.0280	0.0017	0.0017	0.0271	0.0267	0	0.0002	0	2.519e-05	0	0.0019	5.575e-05	0.0020	0.0280	0.0008	0.0008	0.0004	0.0013	0.0239	0.0007	0.0007	0.0204	0.0191	7.227e-05	0	0	0	0	0	0	8.829e-05	0.0009	0.0239	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999446	0.21182	N	-2.095	0.00157	N	-0.52	0.70717	T	4.56	0.00034	N	0.075	0.04913	-0.9170	0.45958	T	0.042	0.17952	T	9	0.0041848123	0.00083	T	.	.	.	0.140	0.37593	0.492	0.57890	0.043077524339	0.03247	0.47628530091073634	0.47548	0.431286790697	0.43342	0.722756564617	0.70449	T	0.004679	0.04092	T	-0.570353	0.00220	T	-0.570419	0.15411	T	0.020213558055547	0.00721	T	0.622038	0.23930	T	0.07239761	0.16100	0.041845765	0.04850	0.07239761	0.16100	0.041845765	0.04849	-1.189	0.01235	T	.	.	0.049	0.00107	B	.	.	-0.067603	0.03838	0.824	0.18754802748313712	0.00603	0.00161	0.00961	N	AEFGBI	0.014744	0.00248	N	-1.61909717250521	0.01172	0.05095243	-1.46445417317676	0.02642	0.1218672	0.598334702221061	0.21704	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.84	0.89	0.18352	0.710000	0.25421	1.776000	0.28675	-0.311000	0.06080	0.000000	0.06391	0.075000	0.22287	0.027000	0.12703	0.3259:0.0:0.6741:0.0	4.521	0.11363	944	0.12746	JmjC domain|JmjC domain|JmjC domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3120.98	39	chr11	95026213	.	A	G	3120.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=1416;ExcessHet=0.0000;FS=3.002;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.66;MQRankSum=-2.521e+00;QD=14.00;ReadPosRankSum=-9.770e-01;SOR=0.928	GT:AD:DP:GQ:PL	0/1:102,121:223:99:3135,0,2472	20	0	1	0
chr11	95026776	95026776	T	G	exonic	KDM4E	.	nonsynonymous SNV	KDM4E:NM_001161630:exon1:c.T1219G:p.F407V,	.	.	433	1082	7	0	0	7	0.00322432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.002	B	0.003	B	.	.	1.000	N	0.345	N	1.77	T	-0.989	T	0.019	T	0.132	-0.476	1.807	-1.49	-0.428	-0.016	2.449	0.003	.	0.0072	0.00279553	0.0059	0.0006	0.0099	0	0	0.0068	0	0.0065	0.0020116	311	154602	rs143234858	0.0104	0.0098	0.0105	0.0102	0.0120	0.0102	0.0102	0.0118	0.0117	0.0016	0.0037	0.0005	0	0.0107	0.0026	0.0120	0.0085	0.0047	0.0068	0.0068	0.0074	0.0061	0.0113	0.0064	0.0063	0.0107	0.0104	0.0019	0	0.0032	0.0009	0	0.0093	0.0034	0.0113	0.0066	0.0033	0.436	0.09374	T	0.333	0.18395	T	0.002	0.09854	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	1.77	0.25841	T	0.79	0.01893	N	0.097	0.07811	-0.9890	0.32853	T	0.019	0.07846	T	9	0.004265785	0.00085	T	.	.	.	0.003	0.00094	.	.	0.043077524339	0.03247	0.15765746771663278	0.15686	0.463039974516	0.45817	0.356590986252	0.18889	T	0.001397	0.00857	T	-0.666727	0.00057	T	-0.719452	0.04823	T	0.000738389523539531	0.00007	T	0.217178	0.02724	T	0.02557602	0.01512	0.033147153	0.02162	0.02557602	0.01512	0.033147153	0.02161	-2.47	0.05580	T	.	.	0.080	0.07650	B	.	.	-0.385564	0.02267	0.234	0.33409785763846811	0.01988	0.00132	0.00814	N	AEFDBI	0.024669	0.01565	N	-1.29220034184438	0.03768	0.168928	-1.37451679846921	0.03525	0.1646331	0.536882318896718	0.21221	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.27	-1.49	0.08259	-0.394000	0.07357	-4.566000	0.02092	-1.134000	0.01451	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4209:0.3167:0.2625	2.449	0.04238	944	0.12746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	5363.68	39	chr11	95026776	.	T	G	5363.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.501;DP=1182;ExcessHet=0.3300;FS=2.431;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=-3.490e-01;SOR=0.604	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1218	18	0	3	0
chr11	95835367	95835367	A	G	exonic	MTMR2	.	nonsynonymous SNV	MTMR2:NM_016156:exon15:c.T1855C:p.S619P	Charcot-Marie-Tooth disease, type 4B1, Autosomal recessive	.	1	1477	40	4	0	48	0.0159893	.	.	231812	MTMR2-related_disorder|not_provided|Charcot-Marie-Tooth_disease|Charcot-Marie-Tooth_disease_type_4B1|Charcot-Marie-Tooth_disease_type_4	.|MedGen:C3661900|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166|MONDO:MONDO:0011066,MedGen:C1832399,OMIM:601382,Orphanet:99955|MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.09	T	0.002	B	0.002	B	0.000	D	1.000	D	1.355	L	-3.63	D	0.193	D	0.736	D	0.442	2.317	13.70	6.17	2.371	1.288	7.011	0.372	.	0.0016	0.00399361	0.0030	9.634e-05	0.0011	0	0.0017	0.0026	0.0022	0.0101	0.0029301	453	154602	rs116750638	0.0021	0.0021	0.0018	0.0025	0.0098	0.0021	0.0020	0.0093	0.0091	0.0002	0.0013	0.0033	5.039e-05	0.0021	0.0059	0.0016	0.0024	0.0098	0.0020	0.0020	0.0020	0.0021	0.0133	0.0018	0.0018	0.0107	0.0097	0.0004	0	0.0020	0.0055	0.0002	0.0008	0.0102	0.0024	0.0009	0.0133	0.069	0.35537	T	0.248	0.23845	T	0.002	0.09854	B	0.002	0.06944	B	0.000091	0.51296	D	0.202843	0.998256	0.48079	D	1.67	0.42885	L	-3.63	0.95984	D	-2.28	0.50830	N	0.125	0.13769	0.193	0.85786	D	0.736	0.90983	D	10	0.0077272058	0.00175	T	.	.	.	0.372	0.69102	.	.	0.944764497742	0.94418	0.5595205592317944	0.55879	0.467842068209	0.46150	0.568110406399	0.48410	T	0.491021	0.81557	T	-0.17215	0.24910	T	-0.0122396	0.69539	D	0.0243959395278633	0.01194	T	0.907509	0.67274	D	0.33594596	0.55954	0.4682053	0.69152	0.28237277	0.51275	0.46881017	0.69190	-6.111	0.48824	T	.	.	0.319	0.58197	B	.;.;.;.;.	.;.;.;.;.	3.875525	0.56290	23.7	0.99573003205197541	0.72501	0.89537	0.50064	D	AEFBI	0.462859	0.51202	N	-0.0352593490406058	0.40263	2.388136	0.162877497370997	0.47829	3.007267	0.99999953904504	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.702456	0.68683	0	0.733575	0.97253	0	.	.	6.17	6.17	0.99707	1.278000	0.32784	6.912000	0.56902	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.652:0.122:0.0:0.226	7.011	0.24042	909	0.22467	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1199.98	33	chr11	95835367	.	A	G	1199.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.650e-01;DP=826;ExcessHet=0.0000;FS=0.629;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.51;ReadPosRankSum=-1.658e+00;SOR=0.738	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1085	20	0	1	0
chr11	96092091	96092093	TGT	-	exonic	MAML2	.	nonframeshift deletion	MAML2:NM_032427:exon2:c.1938_1940del:p.Q665del,	Mucoepidermoid salivary gland carcinoma (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0	0	0	0	0	0	0.0023	3.84e-05	1	26028	rs781413748	0.0001	0.0001	6.944e-05	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	0	2.803e-05	0	2.803e-05	0	0	1.861e-06	3.469e-05	0.0024	8.632e-05	9.236e-05	6.494e-05	0.0001	0.0027	5.007e-05	4.001e-05	0.0016	0.0013	0	0	0	0	0	0	0	0	0	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1937.94	37	chr11	96092090	.	CTGT	C	1937.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.745;DP=974;ExcessHet=0.0000;FS=10.342;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.50;ReadPosRankSum=1.16;SOR=0.476	GT:AD:DP:GQ:PL	0/1:71,54:125:99:1952,0,2544	20	0	1	0
chr11	96092217	96092219	TGC	-	exonic	MAML2	.	nonframeshift deletion	MAML2:NM_032427:exon2:c.1812_1814del:p.Q621del,	Mucoepidermoid salivary gland carcinoma (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	82727.93	103	chr11	96092210	.	TTGCTGCTGC	T,TTGCTGC	82727.93	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=-1.300e-01;DP=3240;ExcessHet=0.3300;FS=2.351;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.99;MQRankSum=0.00;QD=26.30;ReadPosRankSum=0.083;SOR=1.120	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:73,66,5:144:99:.:.:2378,0,2983,2413,2649,5213	0	17	3	0
chr11	96383433	96383433	T	A	exonic	CCDC82	.	nonsynonymous SNV	CCDC82:NM_001318737:exon5:c.A827T:p.D276V	.	.	458	1062	1	1	0	3	0.00141044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.911	P	0.61	P	0.364	N	0.545	D	1.67	L	1.82	T	-1.054	T	0.102	T	0.463	0.308	5.671	4.26	0.886	1.013	8.627	0.164	0.012058582462	7.7e-05	0.00159744	0.0008	0	0	0	0.0002	0.0006	0.0013	0.0030	0.0005951	92	154602	rs142006540	0.0003	0.0003	0.0003	0.0004	0.0023	0.0003	0.0003	0.0020	0.0019	3.008e-05	2.267e-05	0	0	1.943e-05	0.0012	0.0002	0.0004	0.0023	0.0003	0.0003	0.0002	0.0004	0.0043	0.0003	0.0002	0.0029	0.0024	2.407e-05	0	6.557e-05	0	0	9.434e-05	0	0.0003	0.0014	0.0043	0.035	0.43708	D	0.055	0.46862	T	0.567	0.50336	P	0.125	0.51087	B	0.364244	0.04322	N	1.396580	0.545124	0.32086	D	1.905	0.50856	L	1.82	0.25018	T	-0.35	0.12847	N	0.166	0.17691	-1.0538	0.13359	T	0.102	0.37669	T	10	0.005124688	0.00111	T	0.012059	0.30290	T	0.164	0.42212	.	.	0.343101102393	0.33919	0.08475500214235983	0.08409	0.152145718627	0.17166	0.280084699392	0.07504	T	9.15E-4	0.00471	T	-0.443207	0.01238	T	-0.41558	0.31584	T	0.0464989082390584	0.04875	T	0.754824	0.38041	T	0.14441048	0.33148	0.08001095	0.18063	0.14441048	0.33148	0.08001095	0.18062	-4.421	0.36037	T	.	.	0.107	0.19879	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	1.006771	0.13856	10.41	0.93458889882916274	0.23244	0.14893	0.18640	N	AEFDBI	0.059469	0.11235	N	-0.354893297711856	0.27093	1.48373	-0.459215239968957	0.23287	1.269185	0.989210235947187	0.31756	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.39	4.26	0.49832	1.044000	0.29939	1.691000	0.28071	0.352000	0.19979	0.002000	0.15269	0.042000	0.21616	0.321000	0.24994	0.0:0.0885:0.0:0.9115	8.627	0.33061	.	.	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1731.98	36	chr11	96383433	.	T	A	1731.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.620e-01;DP=865;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.39;ReadPosRankSum=0.498;SOR=0.718	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1129	20	0	1	0
chr11	96384356	96384356	C	T	exonic	CCDC82	.	nonsynonymous SNV	CCDC82:NM_001318737:exon4:c.G392A:p.S131N	.	.	488	991	37	6	0	49	0.024126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.002	B	0.005	B	0.513	N	1.000	N	1.445	L	1.81	T	-1.009	T	0.043	T	0.068	-0.245	2.822	-1.45	-0.064	-1.395	0.874	0.018	.	0.0022	0.00499201	0.0059	0	0.0034	0.0002	0.0003	0.0034	0.0133	0.0263	0.0051293	793	154602	rs143022124	0.0020	0.0020	0.0013	0.0026	0.0179	0.0019	0.0019	0.0172	0.0169	0.0003	0.0013	0.0023	2.521e-05	0.0001	0.0106	0.0009	0.0022	0.0179	0.0029	0.0029	0.0023	0.0036	0.0301	0.0027	0.0026	0.0261	0.0246	0.0004	0	0.0028	0.0023	0	9.432e-05	0.0136	0.0033	0.0024	0.0301	1.0	0.00964	T	0.501	0.11153	T	0.002	0.09854	B	0.005	0.11217	B	0.512704	0.05156	N	1.233760	1	0.08975	N	0.805	0.20218	L	1.81	0.25182	T	-0.26	0.11185	N	0.042	0.01498	-1.0088	0.27292	T	0.043	0.18701	T	10	0.0033774972	0.00059	T	.	.	.	0.018	0.03083	.	.	0.159798565429	0.15598	0.03132535768265218	0.03081	0.0574924983243	0.06368	0.307645320892	0.11552	T	0.001217	0.00709	T	-0.661212	0.00062	T	-0.727489	0.04443	T	0.00389319789664587	0.00041	T	0.332367	0.08817	T	0.18073986	0.39209	0.06620944	0.13531	0.18073986	0.39209	0.06620944	0.13530	-6.996	0.55445	T	.	.	0.078	0.20896	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	0.559908	0.09286	6.066	0.88297889401585861	0.17867	0.06405	0.12408	N	AEFDGBHCI	0.037299	0.05108	N	-1.04098532032772	0.07766	0.3618497	-1.11817198183985	0.07352	0.3573358	0.999549943018494	0.40300	0.722319	0.85440	0	0.724815	0.89359	0	0.608884	0.39905	0	0.735409	0.98432	0	.	.	4.48	-1.45	0.08365	-0.764000	0.04841	-0.229000	0.10694	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2623:0.3623:0.1287:0.2467	0.874	0.01142	.	.	Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;.;Domain of unknown function DUF4196	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4390.11	34	chr11	96384356	.	C	T	4390.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.90;DP=1130;ExcessHet=0.1072;FS=4.407;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=2.60;SOR=0.636	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	19	0	2	0
chr11	100193496	100193496	A	G	exonic	CNTN5	.	nonsynonymous SNV	CNTN5:NM_175566:exon12:c.A1495G:p.R499G	.	.	437	1054	27	4	0	35	0.0163322	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.96	D	0.859	P	0.000	D	0.996	D	2.05	M	1.58	T	-0.932	T	0.147	T	0.738	3.496	17.87	3.52	0.440	1.403	12.087	0.219	.	0.0007	0.00159744	0.0044	0	0.0030	0	0	0.0027	0	0.0161	0.0020569	318	154602	rs200731024	0.0016	0.0016	0.0012	0.0020	0.0123	0.0015	0.0015	0.0117	0.0114	3.133e-05	0.0012	0.0107	0	0	0.0071	0.0007	0.0023	0.0123	0.0011	0.0011	0.0009	0.0012	0.0097	0.0009	0.0009	0.0075	0.0067	7.223e-05	0	0.0012	0.0078	0	0	0.0170	0.0009	0.0024	0.0097	0.012	0.54683	D	0.035	0.53072	D	0.96	0.55278	D	0.859	0.61184	P	0.000012	0.62929	D	0.175821	0.996414	0.43191	D	2.275	0.64647	M	1.58	0.29085	T	-3.91	0.74427	D	0.668	0.69562	-0.9319	0.43859	T	0.147	0.47255	T	10	0.013655394	0.00289	T	.	.	.	0.219	0.51417	.	.	0.563062970572	0.55969	0.8011983030890661	0.80073	0.248086709268	0.27368	0.428054273129	0.28942	T	0.612741	0.87751	D	-0.323379	0.06624	T	-0.227893	0.51976	T	0.120874370237199	0.14515	T	0.822518	0.48242	T	0.3360538	0.55963	0.38919717	0.63745	0.3360538	0.55963	0.38919717	0.63745	-9.233	0.69185	D	.	.	0.237	0.61316	B	.;.;.;.;.;.	.;.;.;.;.;.	3.973132	0.58349	24.0	0.9982098746423943	0.90414	0.79615	0.39485	D	AEFI	0.469586	0.51590	N	0.342777765884519	0.58359	4.007656	0.311364403568257	0.56206	3.78372	3.46423760961881E-4	0.06626	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.96	3.52	0.39415	1.332000	0.33410	6.815000	0.56657	0.756000	0.94297	0.955000	0.33325	1.000000	0.68203	0.971000	0.54645	0.7274:0.2726:0.0:0.0	12.087	0.53001	946	0.12043	.;Immunoglobulin-like domain;Immunoglobulin-like domain;.;Immunoglobulin-like domain;Immunoglobulin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1137.98	34	chr11	100193496	.	A	G	1137.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=788;ExcessHet=0.0000;FS=0.798;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=0.723;SOR=0.821	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1102	20	0	1	0
chr11	100271140	100271140	T	C	exonic	CNTN5	.	nonsynonymous SNV	CNTN5:NM_175566:exon15:c.T1991C:p.L664P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.725	H	-1.95	D	1.035	D	0.874	D	1.0	4.136	21.4	5.51	2.094	7.589	14.814	0.948	0.545091240612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	5.135	0.99936	H	-1.95	0.85003	D	-6.19	0.91058	D	0.97	0.99015	1.035	0.97818	D	0.874	0.95806	D	10	0.98820204	0.99226	D	0.545091	0.95781	D	0.948	0.98990	0.945	0.99302	0.958349784257	0.95790	0.9587133783093483	0.95857	0.310046374536	0.33317	0.811578154564	0.83734	D	0.565253	0.85515	D	0.443202	0.92170	D	0.398853	0.92073	D	0.999731957912445	0.98729	D	0.998712	0.99300	D	0.9760552	0.98794	0.9406452	0.97809	0.9760552	0.98795	0.9406452	0.97810	-13.145	0.91731	D	.	.	0.992	0.95627	P	.;.;.;.;.;.	.;.;.;.;.;.	5.220804	0.87624	29.3	0.99923044346334378	0.98917	0.97369	0.74314	D	AEFI	0.963048	0.98483	D	1.02559764339445	0.96478	14.74458	0.903615472759846	0.95727	13.90718	0.985145929311088	0.30836	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.51	5.51	0.81769	7.674000	0.83146	7.918000	0.74374	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	14.814	0.69645	862	0.33134	.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	996.98	34	chr11	100271140	.	T	C	996.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.657;DP=785;ExcessHet=0.0000;FS=0.762;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.07;ReadPosRankSum=-1.684e+00;SOR=0.859	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1110	20	0	1	0
chr11	100976869	100976869	A	G	exonic	ARHGAP42	.	nonsynonymous SNV	ARHGAP42:NM_152432:exon21:c.A2291G:p.E764G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.319	B	0.081	B	0.000	D	1.000	D	0.895	L	3.26	T	-0.988	T	0.020	T	0.42	3.021	16.08	5.96	2.285	8.739	16.448	0.157	0.00939113306455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.36509	T	0.33	0.21678	T	0.319	0.32965	B	0.081	0.28987	B	0.000096	0.51296	D	0.082989	0.999311	0.49512	D	0.695	0.17993	N	3.16	0.07711	T	-1.89	0.44094	N	0.218	0.24385	-0.9883	0.33027	T	0.020	0.08453	T	10	0.16143036	0.30281	T	0.009391	0.24623	T	0.157	0.40909	0.158	0.06178	0.202086224978	0.19791	0.31463402663422724	0.31376	.	.	0.378580957651	0.22054	T	0.006664	0.06088	T	-0.143137	0.29391	T	-0.443383	0.28429	T	0.611052393913269	0.36843	D	0.787021	0.42574	T	0.09668663	0.22777	0.204285	0.44545	0.09668663	0.22776	0.204285	0.44544	-4.338	0.28706	T	.	.	0.079	0.07083	B	.;.	.;.	3.892573	0.56649	23.8	0.99793936787335302	0.87928	0.99594	0.97801	D	AEFBI	0.892074	0.82866	D	0.145350673101438	0.48592	3.069584	0.318271584317243	0.56613	3.824911	0.999975837544878	0.50053	0.609539	0.35627	0	0.588015	0.36545	0	0.493711	0.08198	1	0.655142	0.61905	0	.	.	5.96	5.96	0.96695	6.962000	0.75842	11.049000	0.85275	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.560000	0.30412	1.0:0.0:0.0:0.0	16.448	0.83801	863	0.32847	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	1659.33	70	chr11	100976869	.	A	G	1659.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-7.100e-01;DP=934;ExcessHet=0.0000;FS=1.527;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=15.36;ReadPosRankSum=0.095;SOR=0.554	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1620	19	0	1	1
chr11	101128769	101128769	G	T	exonic	PGR	.	nonsynonymous SNV	PGR:NM_000926:exon1:c.C302A:p.S101Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.971	D	0.601	P	0.221	N	1.000	N	2.175	M	3.18	T	-1.089	T	0.037	T	0.329	2.382	13.92	3.26	2.176	0.952	9.539	0.065	0.040955937106	.	0.000399361	0.0001	0	0	0	0	0	0	0.0011	0.0001294	20	154602	rs573557192	5.473e-05	5.472e-05	3.404e-05	7.564e-05	0.0008	4.477e-05	4.148e-05	0.0007	0.0006	0	0	0	0	0	0	8.993e-07	9.935e-05	0.0008	2.626e-05	2.625e-05	1.284e-05	4.028e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.002	0.72154	D	0.018	0.66756	D	0.948	0.53620	P	0.601	0.50808	P	0.220910	0.16140	N	0.521213	1	0.19989	N	2.045	0.56016	M	3.18	0.07478	T	-1.78	0.42001	N	0.268	0.34012	-1.0889	0.05718	T	0.037	0.16116	T	10	0.01952383	0.00437	T	0.040956	0.59663	D	0.065	0.18881	0.369	0.37850	0.464188422262	0.46044	0.13593680064662167	0.13517	.	.	0.439577639103	0.30519	T	0.183926	0.53643	T	-0.478539	0.00754	T	-0.516512	0.20649	T	0.217880734176973	0.21358	T	0.855414	0.55526	D	0.20625925	0.42795	0.26950994	0.52832	0.20625925	0.42794	0.26950994	0.52831	-6.296	0.48928	T	.	.	0.118	0.39697	B	.;.;.;.	.;.;.;.	3.413059	0.47354	22.4	0.99167369164540153	0.54269	0.28160	0.23477	N	AEFDBHCI	0.081738	0.16544	N	-0.00115981596437442	0.41803	2.506984	-0.160896762717837	0.32990	1.882539	0.999968446931935	0.48965	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.2	3.26	0.36471	0.503000	0.22318	6.682000	0.56313	0.590000	0.31872	0.000000	0.06391	0.997000	0.33255	0.878000	0.41950	0.1035:0.0:0.8965:0.0	9.539	0.38407	893	0.26510	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2515.98	43	chr11	101128769	.	G	T	2515.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.939e+00;DP=988;ExcessHet=0.0000;FS=1.980;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.16;ReadPosRankSum=-4.420e-01;SOR=0.523	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr11	101453004	101453004	A	C	exonic	TRPC6	.	nonsynonymous SNV	TRPC6:NM_004621:exon13:c.T2747G:p.L916R,	Glomerulosclerosis, focal segmental, 2	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.992	D	0.000	D	1.000	D	1.895	L	-2.15	D	0.584	D	0.752	D	0.904	4.459	23.8	5.65	2.164	9.108	15.936	0.718	0.198228722233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.83351	D	0.998	0.90584	D	0.953	0.80445	D	0.000001	0.84330	D	0.056327	1	0.81001	D	2.475	0.71894	M	-2.15	0.86481	D	-3.63	0.69714	D	0.664	0.73465	0.584	0.91684	D	0.752	0.91556	D	10	0.7678459	0.76845	D	0.198229	0.86583	D	0.718	0.90011	0.291	0.25241	0.970006060122	0.96968	0.8545119816675583	0.85414	0.228127400147	0.25366	0.542315840721	0.44773	T	0.581373	0.86297	D	0.414916	0.90749	D	0.358222	0.90634	D	0.996555924415588	0.89586	D	0.927207	0.73169	D	0.95527554	0.96801	0.9036303	0.95234	0.95527554	0.96802	0.9036303	0.95235	-12.065	0.85166	D	.	.	0.759	0.75443	P	.;.;.;.	.;.;.;.	5.190470	0.87047	29.1	0.99806187771427013	0.89085	0.99183	0.92454	D	AEFI	0.947203	0.95750	D	0.788883236141922	0.85404	8.566191	0.788697792693324	0.88997	9.797544	0.999999387240195	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.65	5.65	0.86881	9.098000	0.93552	11.151000	0.87351	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.936	0.79500	811	0.42639	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1523.98	35	chr11	101453004	.	A	C	1523.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.232e+00;DP=819;ExcessHet=0.0000;FS=1.490;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=-2.660e-01;SOR=0.518	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1170	20	0	1	0
chr11	101948072	101948072	C	G	exonic	CEP126	.	nonsynonymous SNV	CEP126:NM_020802:exon4:c.C436G:p.Q146E,	.	.	430	1069	23	0	0	23	0.0106432	.	.	701522	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.03	D	0.997	D	0.946	D	0.000	D	1.000	D	2.32	M	2.68	T	-1.107	T	0.091	T	0.653	3.709	18.84	5.4	2.673	1.660	12.085	0.195	.	0.0008	0.00419329	0.0030	0.0005	0.0017	0.0003	0.0002	0.0019	0.0055	0.0122	0.002749	425	154602	rs142141239	0.0021	0.0021	0.0018	0.0024	0.0116	0.0020	0.0020	0.0110	0.0107	0.0002	0.0013	0.0012	7.585e-05	0.0005	0.0096	0.0015	0.0025	0.0116	0.0014	0.0014	0.0015	0.0013	0.0120	0.0013	0.0012	0.0095	0.0086	0.0004	0	0.0014	0.0020	0	0.0002	0.0034	0.0015	0.0019	0.0120	0.008	0.58626	D	0.0	0.92824	D	.	.	.	.	.	.	0.000007	0.62929	D	0.066085	0.929249	0.27100	N	.	.	.	2.68	0.12371	T	-2.31	0.51319	N	0.44	0.47857	-1.1075	0.03293	T	0.091	0.34710	T	10	0.007989496	0.00181	T	.	.	.	0.195	0.47612	.	.	0.508637063495	0.50502	0.19715428182912278	0.19632	0.55903840178	0.52464	0.398614287376	0.24875	T	.	.	.	-0.370491	0.03569	T	-0.294573	0.45296	T	0.0340959912636383	0.02653	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.14933	B	.	.	3.740163	0.53550	23.4	0.99368339192578992	0.61326	0.86869	0.46246	D	AEFI	0.167823	0.29453	N	0.675443646849055	0.78024	6.788801	0.646616358878334	0.78357	6.860392	0.0347394805635801	0.14168	0.706298	0.61202	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.4	5.4	0.77957	1.303000	0.33075	4.829000	0.45183	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1716:0.8284:0.0:0.0	12.085	0.52989	662	0.61715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1237.98	33	chr11	101948072	.	C	G	1237.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.637;DP=801;ExcessHet=0.0000;FS=1.787;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.76;ReadPosRankSum=-2.890e-01;SOR=0.958	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	20	0	1	0
chr11	102083149	102083149	C	T	exonic	CFAP300	.	nonsynonymous SNV	CFAP300:NM_001363505:exon6:c.C682T:p.R228C	.	.	.	.	.	.	.	.	.	.	.	1673374	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	2.74	M	.	.	0.160	D	0.554	D	0.856	3.217	16.78	5.85	2.773	4.349	19.761	0.402	0.0196262632994	0.0002	.	0.0008	0	0	0	0.0095	0.0004	0.0055	0.0001	0.0006274	97	154602	rs199754694	0.0004	0.0004	0.0004	0.0004	0.0004	0.0004	0.0004	0.0001	0.0001	0	0	0	0	0.0077	0.0004	0.0001	0.0003	5.177e-05	0.0008	0.0008	0.0005	0.0011	0.0003	0.0007	0.0006	0.0002	0.0002	0	0	0	0	0	0.0093	0	0.0003	0	0.0002	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000009	0.62929	D	0.111228	1	0.81001	D	.	.	.	.	.	.	-6.48	0.91522	D	0.742	0.74189	0.160	0.85220	D	0.554	0.83714	D	9	0.01345405	0.00285	T	0.019626	0.42042	T	0.402	0.71558	.	.	0.397838977388	0.39401	0.6586120345125259	0.65798	0.296031586504	0.31989	.	.	.	0.450544	0.79162	T	0.0916386	0.63374	D	0.275824	0.86894	D	0.314283013343811	0.25589	T	0.90351	0.66162	D	0.55164206	0.70047	0.55351985	0.74180	0.5705614	0.71093	0.47705978	0.69703	-6.605	0.51092	T	0.8524982137200119	0.91826	0.356	0.56978	A	.	.	5.162112	0.86499	28.9	0.99896201395295592	0.96895	0.93366	0.58024	D	AEFI	0.616943	0.60332	D	0.723642464063522	0.81183	7.462696	0.652843280005214	0.78823	6.954376	0.154896683155306	0.17500	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.85	5.85	0.93663	4.524000	0.60267	5.955000	0.51719	0.547000	0.25779	1.000000	0.71638	1.000000	0.68203	0.599000	0.31363	0.0:1.0:0.0:0.0	19.761	0.96315	586	0.69252	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.08333	189.24	70	chr11	102083149	.	C	T	189.24	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-3.124e+00;DP=957;ExcessHet=0.3300;FS=358.384;InbreedingCoeff=-0.1253;MLEAC=3;MLEAF=0.083;MQ=60.00;MQRankSum=0.00;QD=0.67;ReadPosRankSum=-1.140e-01;SOR=8.862	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1120	15	0	3	3
chr11	102611773	102611773	T	G	exonic	MMP20	.	nonsynonymous SNV	MMP20:NM_004771:exon3:c.A505C:p.I169L,	Amelogenesis imperfecta, type IIA2, Autosomal recessive	.	0	1484	35	3	0	41	0.0136258	.	.	324470	not_provided|Amelogenesis_imperfecta_hypomaturation_type_2A2	MedGen:C3661900|MONDO:MONDO:0012926,MedGen:C2675858,OMIM:612529,Orphanet:88661	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	0.003	B	0.424	B	0.001	D	0.999	D	2.35	M	1.51	T	-1.040	T	0.010	T	0.154	3.496	17.87	1.82	0.147	1.366	9.067	0.101	.	0.0066	0.0273562	0.0132	0.0103	0.0032	0.0905	0	0.0028	0.0121	0.0291	0.0124966	1932	154602	rs17099008	0.0075	0.0075	0.0069	0.0081	0.0832	0.0073	0.0073	0.0808	0.0798	0.0120	0.0028	0.0002	0.0832	0.0001	0.0078	0.0036	0.0082	0.0288	0.0095	0.0095	0.0089	0.0100	0.0821	0.0091	0.0089	0.0756	0.0731	0.0124	0.0373	0.0046	0.0003	0.0821	0.0003	0.0068	0.0035	0.0080	0.0284	0.003	0.68238	D	0.051	0.47828	T	0.003	0.11197	B	0.424	0.45210	B	0.000848	0.41440	D	0.267929	0.998964	0.45775	D	1.965	0.53209	M	1.51	0.30937	T	-1.85	0.43334	N	0.145	0.14622	-1.0405	0.17162	T	0.010	0.03673	T	10	0.0022335649	0.00032	T	.	.	.	0.101	0.28911	0.739	0.87147	.	.	0.7443420672079913	0.74380	0.0959658060652	0.10830	0.469243943691	0.34576	T	0.09987	0.40511	T	-0.570989	0.00218	T	-0.521782	0.20114	T	0.0378741418454267	0.03310	T	0.882612	0.60317	D	0.6179698	0.73655	0.4395777	0.67305	0.74831414	0.80771	0.4293998	0.66623	-6.117	0.47248	T	0.2241891874147531	0.30273	0.317	0.54265	B	.	.	3.215316	0.43783	21.8	0.99052178842528649	0.51275	0.70799	0.34741	D	AEFGBCI	0.293574	0.40416	N	-0.228406973005845	0.31971	1.798246	-0.173602641907642	0.32511	1.850358	0.996210304616188	0.34598	0.559995	0.30671	0	0.624146	0.53433	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.35	1.82	0.24209	1.731000	0.37758	3.423000	0.38265	-0.119000	0.14319	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.2124:0.0:0.7876	9.067	0.35630	809	0.43032	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	350.98	38	chr11	102611773	.	T	G	350.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=720;ExcessHet=0.0000;FS=1.637;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.53;ReadPosRankSum=-1.244e+00;SOR=1.179	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1129	20	0	1	0
chr11	102770800	102770800	T	A	exonic	MMP10	.	nonsynonymous SNV	MMP10:NM_002425:exon10:c.A1424T:p.H475L,	.	.	421	1076	23	2	0	27	0.012391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.0	B	0.002	B	0.182	N	1.000	N	0	N	4.31	T	-0.927	T	0.004	T	0.174	1.494	10.94	-0.109	-0.137	-0.107	0.770	0.017	0.00318068657609	0.0005	0.00119808	0.0010	0.0004	0.0010	0	0	0.0011	0.0011	0.0018	0.0001552	24	154602	rs17861009	0.0009	0.0009	0.0008	0.0010	0.0108	0.0009	0.0008	0.0087	0.0079	0.0003	0.0013	0.0013	0	0	0.0108	0.0009	0.0014	0.0015	0.0008	0.0008	0.0008	0.0008	0.0026	0.0007	0.0007	0.0020	0.0017	0.0001	0	0.0026	0.0003	0	0	0.0170	0.0009	0.0028	0.0019	0.09	0.31987	T	0.327	0.18732	T	0.0	0.02946	B	0.002	0.06944	B	0.182352	0.03190	N	2.149840	1	0.08975	N	-1.355	0.00654	N	4.31	0.02412	T	-2.33	0.51646	N	0.09	0.06854	-0.9266	0.44630	T	0.004	0.01261	T	10	0.010596365	0.00235	T	0.003181	0.06966	T	0.017	0.02790	.	.	0.313210971179	0.30940	0.40563307745190585	0.40479	0.0101727849801	0.00935	0.256714820862	0.04508	T	0.111286	0.42665	T	-0.602134	0.00142	T	-0.673078	0.07413	T	0.000818511629131187	0.00008	T	0.447355	0.12562	T	0.0582979	0.11712	0.064278685	0.12857	0.0582979	0.11712	0.064278685	0.12857	-6.871	0.53085	T	.	.	0.077	0.06295	B	.	.	1.194081	0.15853	12.15	0.8362894528783974	0.14831	0.04282	0.09822	N	AEFBI	0.050999	0.08966	N	-1.25146082571479	0.04280	0.1928792	-1.24758167566543	0.05167	0.2455461	7.82660280016732E-5	0.04552	0.706298	0.61202	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.92	-0.109	0.12922	-0.314000	0.08132	0.155000	0.15338	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.510000	0.29244	0.202:0.1942:0.1238:0.4801	0.770	0.00956	768	0.49510	Hemopexin-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	731.98	45	chr11	102770800	.	T	A	731.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.474;DP=822;ExcessHet=0.0000;FS=6.036;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.76;ReadPosRankSum=2.26;SOR=0.760	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1218	20	0	1	0
chr11	102775202	102775202	A	G	exonic	MMP10	.	nonsynonymous SNV	MMP10:NM_002425:exon7:c.T1052C:p.V351A,	.	.	.	.	.	.	.	.	.	.	.	2370968	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	1.0	D	1.0	D	0.327	N	1.000	N	1.67	L	4.11	T	-1.048	T	0.024	T	0.267	2.321	13.72	3.1	0.772	1.798	8.024	0.053	0.00592495614423	.	.	8.564e-05	0	0	0	0	0.0002	0	0	7.12e-05	11	154602	rs201248623	7.286e-05	7.456e-05	7.446e-05	7.124e-05	0.0012	6.134e-05	5.675e-05	0.0006	0.0004	3.043e-05	0	0.0017	0	0	0.0012	3.899e-05	0.0002	0	8.545e-05	8.538e-05	0.0001	6.727e-05	7.352e-05	4.959e-05	3.964e-05	2.847e-05	1.859e-05	0	0	0	0.0023	0	0	0	7.352e-05	0	0	0.025	0.47320	D	0.027	0.55341	D	1.0	0.90584	D	1.0	0.97372	D	0.327313	0.14172	N	0.606658	1	0.08975	N	2.49	0.72568	M	4.11	0.02916	T	-3.37	0.66665	D	0.431	0.47022	-1.0483	0.14875	T	0.024	0.10284	T	10	0.09551877	0.17065	T	0.005925	0.15430	T	0.053	0.14996	.	.	0.311387274539	0.30754	0.7331489841672488	0.73259	0.0397582316544	0.04249	0.353751987219	0.18473	T	0.161217	0.50538	T	-0.303548	0.08329	T	-0.492891	0.23087	T	0.982672333717346	0.74634	D	0.669833	0.27843	T	0.13769291	0.31873	0.17728305	0.40320	0.13769291	0.31873	0.17728305	0.40319	-6.97	0.53814	T	.	.	0.251	0.48561	B	.	.	2.440107	0.31407	18.73	0.98986417993702669	0.49841	0.15222	0.18805	N	AEFI	0.096428	0.19467	N	-0.105063175976889	0.37172	2.158828	-0.31366329384255	0.27656	1.536214	1.1303491965864E-5	0.02871	0.706298	0.61202	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	4.23	3.1	0.34780	3.134000	0.50233	5.241000	0.48062	0.751000	0.87719	0.027000	0.20232	0.999000	0.35428	0.463000	0.28185	0.8309:0.0:0.1691:0.0	8.024	0.29586	768	0.49510	Hemopexin-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	554.98	34	chr11	102775202	.	A	G	554.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.072e+00;DP=743;ExcessHet=0.0000;FS=1.085;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=0.495;SOR=0.527	GT:AD:DP:GQ:PL	0/1:24,26:50:99:569,0,561	20	0	1	0
chr11	102795503	102795503	C	T	exonic	MMP1	.	nonsynonymous SNV	MMP1:NM_001145938:exon5:c.G532A:p.G178S	COPD, rate of decline of lung function in	.	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.014	B	0.011	N	1.000	N	-0.055	N	2.01	T	-1.001	T	0.023	T	0.278	-0.508	1.675	5.65	2.824	1.265	11.428	0.100	0.00617780001164	.	.	4.127e-05	0	0	0.0006	0	0	0	0	3.23e-05	5	154602	rs777202958	1.095e-05	1.094e-05	1.225e-05	9.626e-06	0.0002	6.48e-06	5.24e-06	9.929e-05	7.225e-05	0	0	0	0.0002	0	0	5.396e-06	1.656e-05	1.159e-05	2.627e-05	2.625e-05	3.854e-05	1.343e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.014	0.16862	B	0.011405	0.29543	N	0.288499	1	0.08975	N	-0.9	0.01342	N	2.01	0.21291	T	0.37	0.03639	N	0.088	0.06587	-1.0013	0.29545	T	0.023	0.09787	T	10	0.030106634	0.01137	T	0.006178	0.16200	T	0.100	0.28662	0.347	0.34274	0.370789594751	0.36692	0.45473484382669177	0.45391	0.0100870195922	0.00923	0.324572503567	0.14113	T	0.051984	0.29033	T	-0.425523	0.01578	T	-0.548687	0.17451	T	0.0559524454871642	0.06516	T	0.636336	0.25008	T	0.26766774	0.49839	0.2089193	0.45214	0.26766774	0.49839	0.2089193	0.45214	-2.802	0.08202	T	.	.	0.111	0.21466	B	.	.	1.412496	0.18282	13.65	0.74774682133338832	0.10822	0.08458	0.14384	N	AEFBCI	0.121146	0.23566	N	-0.632778677611511	0.17965	0.9289655	-0.445517605270007	0.23677	1.292415	0.990384175554114	0.32135	0.660085	0.49399	0	0.573888	0.26702	0	0.573888	0.23631	0	0.651492	0.60203	0	.	.	5.65	5.65	0.86881	2.224000	0.42587	1.799000	0.28866	0.599000	0.40250	0.011000	0.18532	0.061000	0.22037	0.838000	0.39538	0.0:0.8607:0.0:0.1393	11.428	0.49266	771	0.49057	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	882.98	43	chr11	102795503	.	C	T	882.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.276;DP=914;ExcessHet=0.0000;FS=4.389;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=-6.710e-01;SOR=0.631	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,114,1710	20	0	1	0
chr11	102842429	102842429	A	C	splicing	MMP3	NM_002422:exon3:c.499+2T>G	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.857	12.17	6.16	2.367	9.009	16.806	.	.	.	.	0.0004	0	0.0001	0	0.0064	0.0002	0	0.0002	.	.	.	.	2.086e-05	5.618e-05	1.904e-05	2.273e-05	0.0001	1.164e-05	8.96e-06	1.83e-05	7.46e-06	8.443e-05	0	9.256e-05	4.578e-05	4.403e-05	0	1.009e-05	7.556e-05	0.0001	0.0005	0.0021	0.0007	0.0003	0.0019	0.0003	0.0002	0.0003	0.0002	0.0011	0	0	0	0	0	0	0.0004	0.0086	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197312	0.73641	D	0.0456489	0.73297	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.839421	0.78995	27.0	0.9793394705627908	0.36978	0.99771	0.99347	D	AEBI	.	.	.	1.08370277589635	0.97821	16.83255	0.912702695708804	0.96102	14.30564	0.999999820539921	0.74766	0.06567	0.01388	0	0.059962	0.00310	0	0.060301	0.00762	0	0.075334	0.01956	0	0.959304	0.64975	6.16	6.16	0.99302	5.701000	0.67981	11.058000	0.85397	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.602000	0.31438	1.0:0.0:0.0:0.0	16.806	0.85530	809	0.43032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	96.41	39	chr11	102842429	.	A	C	96.41	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.559e+00;DP=794;ExcessHet=0.3300;FS=9.975;InbreedingCoeff=-0.2970;MLEAC=5;MLEAF=0.357;MQ=59.81;MQRankSum=0.00;QD=0.90;ReadPosRankSum=1.90;SOR=1.749	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:35,0:35:0:.:.:0,0,598	4	0	3	14
chr11	103215806	103215806	C	G	exonic	DYNC2H1	.	nonsynonymous SNV	DYNC2H1:NM_001080463:exon55:c.C8780G:p.T2927R	Short-rib thoracic dysplasia 3 with or without polydactyly, Autosomal recessive, Digenic recessive	.	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.005	B	0.018	B	0.000	U	1.000	D	1.04	L	-0.77	T	-0.928	T	0.221	T	0.368	0.562	7.036	2.15	0.153	0.495	9.899	0.105	0.044925131881	.	.	9.144e-06	0	0	0	0	1.642e-05	0	0	6.5e-06	1	154602	rs752196931	1.37e-06	1.368e-06	1.363e-06	1.377e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	6.575e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.421	0.09806	T	0.235	0.24767	T	0.005	0.12996	B	0.018	0.18489	B	0.000084	0.51296	U	0.075732	0.986576	0.81001	D	1.445	0.36358	L	-0.77	0.73523	T	-0.74	0.20791	N	0.496	0.53181	-0.9280	0.44429	T	0.221	0.58370	T	10	0.10023704	0.18241	T	0.044925	0.61730	D	0.105	0.29889	0.342	0.33464	0.371531589858	0.36766	0.46022823341341557	0.45940	0.0705576635459	0.07905	0.49234443903	0.37764	T	0.143345	0.47942	T	-0.0537795	0.43872	T	-0.315027	0.43118	T	0.0399222336709499	0.03676	T	0.89651	0.63872	D	0.17219846	0.37897	0.119372524	0.28813	0.17219846	0.37896	0.119372524	0.28812	-3.405	0.15123	T	0.3912543359724328	0.48440	0.107	0.21201	B	.;.;.;.	.;.;.;.	0.872369	0.12449	8.986	0.81924281095452078	0.13929	0.68616	0.33870	D	AEFDBI	0.439784	0.49862	N	-0.823407914135196	0.12713	0.6214738	-0.736543527393977	0.16054	0.8474346	1.9211061599015E-4	0.05898	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.33	2.15	0.26590	0.525000	0.22664	.	.	-0.173000	0.11020	0.054000	0.21560	0.001000	0.17328	0.917000	0.45243	0.0:0.6237:0.0:0.3763	9.899	0.40505	595	0.68488	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	685.98	35	chr11	103215806	.	C	G	685.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=787;ExcessHet=0.0000;FS=1.900;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.47;ReadPosRankSum=-1.291e+00;SOR=0.948	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1074	20	0	1	0
chr11	103236469	103236469	A	G	exonic	DYNC2H1	.	nonsynonymous SNV	DYNC2H1:NM_001080463:exon63:c.A9749G:p.Q3250R	Short-rib thoracic dysplasia 3 with or without polydactyly, Autosomal recessive, Digenic recessive	.	11	1492	18	1	0	20	0.00665779	.	.	195492	not_specified|not_provided|Short_rib-polydactyly_syndrome|Jeune_thoracic_dystrophy	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0015461,MedGen:C0036996,Orphanet:1505|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.28	T	0.518	P	0.252	B	0.000	D	1.000	D	0.92	L	1.65	T	-1.063	T	0.092	T	0.559	3.587	18.27	5.69	2.167	8.812	15.990	0.174	.	0.0012	0.00239617	0.0029	0.0002	0.0009	0	0	0.0022	0.0022	0.0116	0.002652	410	154602	rs140830294	0.0023	0.0024	0.0021	0.0026	0.0115	0.0023	0.0022	0.0109	0.0106	0.0002	0.0011	0.0131	0	0.0002	0.0112	0.0016	0.0031	0.0115	0.0019	0.0019	0.0020	0.0017	0.0114	0.0017	0.0016	0.0090	0.0081	0.0003	0	0.0026	0.0138	0	0.0002	0.0068	0.0017	0.0038	0.0114	0.282	0.19430	T	0.552	0.09393	T	0.065	0.37483	B	0.056	0.39069	B	0.000457	0.44317	D	0.198629	0.999991	0.81001	D	0.875	0.21512	L	1.65	0.38883	T	-2.25	0.50337	N	0.51	0.57946	-1.0627	0.11093	T	0.092	0.35119	T	10	0.009339243	0.00211	T	.	.	.	0.174	0.44019	.	.	0.716290961394	0.71379	0.6241017257502343	0.62343	0.0691000608039	0.07735	0.715855002403	0.69442	T	0.171879	0.52016	T	-0.361006	0.04073	T	-0.281941	0.46606	T	0.0231418284931443	0.01040	T	0.863414	0.55914	D	0.45513895	0.64367	0.37592888	0.62726	0.4375642	0.63245	0.43919477	0.67280	-9.413	0.70316	D	0.39480278463588137	0.48747	0.273	0.54529	B	.;.;.;.	.;.;.;.	3.637035	0.51552	23.1	0.996764475609072	0.78977	0.98797	0.86978	D	AEFI	0.909330	0.86581	D	0.186195066284451	0.50537	3.242698	0.36461638688929	0.59393	4.116746	0.99924527578784	0.38873	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.69	5.69	0.88346	8.800000	0.91521	.	.	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	15.990	0.79993	603	0.67726	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	1307.11	34	chr11	103236469	.	A	G	1307.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.33;DP=777;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.08;ReadPosRankSum=0.294;SOR=0.756	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1096	19	0	2	0
chr11	103283029	103283029	G	C	exonic	DYNC2H1	.	nonsynonymous SNV	DYNC2H1:NM_001377:exon73:c.G10834C:p.D3612H	Short-rib thoracic dysplasia 3 with or without polydactyly, Autosomal recessive, Digenic recessive	.	2	1514	6	0	0	6	0.00197759	.	.	222018	Short_rib-polydactyly_syndrome|Jeune_thoracic_dystrophy|not_specified|Asphyxiating_thoracic_dystrophy_3	MONDO:MONDO:0015461,MedGen:C0036996,Orphanet:1505|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474|MedGen:CN169374|MONDO:MONDO:0013127,MedGen:C0036069,OMIM:613091,Orphanet:474,Orphanet:93269,Orphanet:93270,Orphanet:93271	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.817	P	0.693	P	0.006	N	1.000	D	0.55	N	3.08	T	-1.068	T	0.016	T	0.752	4.173	21.6	5.44	2.551	6.566	18.038	0.259	.	0.0055	0.00519169	0.0074	0.0018	0.0319	0	0.0010	0.0070	0.0060	0.0019	0.0069145	1069	154602	rs116872934	0.0068	0.0068	0.0069	0.0066	0.0275	0.0066	0.0066	0.0262	0.0256	0.0011	0.0275	0.0056	0	0.0011	0.0017	0.0071	0.0052	0.0028	0.0063	0.0063	0.0061	0.0065	0.0244	0.0059	0.0058	0.0224	0.0216	0.0021	0	0.0244	0.0058	0	0.0008	0.0034	0.0065	0.0047	0.0031	0.041	0.41915	D	0.114	0.36765	T	0.066	0.45613	B	0.145	0.53889	B	0.006273	0.01117	N	2.962910	0.998733	0.81001	D	1.39	0.34934	L	3.08	0.08460	T	-1.97	0.45587	N	0.573	0.60410	-1.0679	0.09880	T	0.016	0.06616	T	10	0.006396532	0.00145	T	.	.	.	0.259	0.57090	.	.	0.411001663086	0.40716	0.3808785964054901	0.38002	0.0753896777869	0.08455	0.654516041279	0.60627	T	0.120994	0.44364	T	-0.325177	0.06482	T	-0.217559	0.52971	T	0.0147985303923625	0.00311	T	0.891911	0.62748	D	0.15489395	0.35035	0.18020076	0.40804	0.163431	0.36483	0.19564216	0.43251	-5.063	0.37516	T	0.3102136810837569	0.40807	0.155	0.43707	B	.;.;.;.	.;.;.;.	4.130079	0.61802	24.4	0.99472390284296797	0.66419	0.96970	0.71943	D	AEFBI	0.599546	0.59252	D	0.258743143391408	0.54072	3.573837	0.401653450492819	0.61669	4.370164	0.915540330848709	0.26486	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.44	5.44	0.79348	6.545000	0.73784	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.038	0.89235	624	0.65661	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	463.98	41	chr11	103283029	.	G	C	463.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.044;DP=771;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.44;ReadPosRankSum=-1.330e-01;SOR=0.583	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr11	103996064	103996064	C	T	splicing	PDGFD	NM_033135:exon3:c.492+1G>A;NM_025208:exon3:c.510+1G>A	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.548	24.6	5.97	2.831	7.487	20.406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.457921	0.92833	D	0.419996	0.92744	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.648634	0.92795	33	0.99558094896803184	0.71583	0.98479	0.83212	D	AEFDGIJ	.	.	.	1.22267967803679	0.99731	25.92947	1.09129805062731	0.99742	26.108	0.999999999969578	0.74766	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.989814	0.98528	5.97	5.97	0.96935	7.568000	0.81546	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	20.406	0.99010	892	0.26670	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1238.98	39	chr11	103996064	.	C	T	1238.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.723;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.11;ReadPosRankSum=0.691;SOR=0.726	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1206	20	0	1	0
chr11	105979645	105979645	G	A	exonic	GRIA4	.	nonsynonymous SNV	GRIA4:NM_000829:exon17:c.G2615A:p.R872H,	.	.	433	1087	2	0	0	2	0.000919118	.	.	962920	GRIA4-related_disorder|Neurodevelopmental_disorder_with_or_without_seizures_and_gait_abnormalities|Inborn_genetic_diseases	.|MONDO:MONDO:0060641,MedGen:C4693391,OMIM:617864|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.959	D	0.000	D	1.000	D	2.51	M	2.55	T	-1.030	T	0.117	T	0.823	4.770	26.8	5.61	2.624	9.830	19.625	0.364	0.00594189244539	.	.	4.943e-05	0	0	0	0	8.992e-05	0	0	3.88e-05	6	154602	rs756483110	4.107e-05	4.104e-05	2.86e-05	5.366e-05	0.0002	3.246e-05	2.921e-05	2.456e-05	2.145e-05	0	0	0.0006	2.519e-05	0	0.0002	3.33e-05	4.971e-05	2.319e-05	3.285e-05	3.284e-05	5.138e-05	1.345e-05	4.409e-05	1.261e-05	7.98e-06	1.17e-05	6.25e-06	0	0	0	0.0006	0	0	0	4.409e-05	0	0	0.001	0.78490	D	0.009	0.66756	D	1.0	0.90584	D	0.959	0.70163	D	0.000003	0.62929	D	0.000000	1	0.81001	D	2.43	0.70455	M	2.55	0.13795	T	-1.93	0.44852	N	0.373	0.41656	-1.0300	0.20454	T	0.117	0.41253	T	10	0.27101368	0.44637	T	0.005942	0.15490	T	0.364	0.68407	0.572	0.69564	0.677451283365	0.67471	0.5090803722464851	0.50830	2.3112671158	0.96577	0.829971551895	0.86558	D	0.242314	0.61103	T	-0.0158066	0.49449	T	-0.0789536	0.64981	T	0.377470397368388	0.28085	T	0.930507	0.74278	D	0.26278287	0.49341	0.3089058	0.56907	0.26278287	0.49341	0.3089058	0.56907	-4.4	0.29557	T	.	.	0.395	0.59313	A	.;.	.;.	5.170867	0.86670	29.0	0.99934680016143984	0.99535	0.99008	0.89887	D	AEFBI	0.930819	0.91870	D	0.926113768107269	0.92980	11.74582	0.906705686700801	0.95858	14.04192	0.999999932934469	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.61	5.61	0.85347	9.964000	0.99056	11.813000	0.96995	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	19.625	0.95670	669	0.61081	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1801.98	35	chr11	105979645	.	G	A	1801.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.893e+00;DP=812;ExcessHet=0.0000;FS=1.436;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.19;ReadPosRankSum=0.052;SOR=0.836	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1335	20	0	1	0
chr11	106010469	106010469	G	A	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.C449T:p.P150L	.	.	.	.	.	.	.	.	.	.	.	2383066	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.597	P	0.084	B	0.010	N	1.000	D	1.39	L	.	.	-0.795	T	0.161	T	0.407	0.898	8.649	5.58	2.782	5.706	19.917	0.081	0.00609071524846	.	.	1.692e-05	0	0	0	0.0002	1.521e-05	0	0	1.94e-05	3	154602	rs776492658	4.381e-05	4.378e-05	3.678e-05	5.092e-05	2.989e-05	3.511e-05	3.195e-05	2.083e-05	1.783e-05	2.989e-05	0	0	0	0.0005	0	2.879e-05	4.971e-05	2.323e-05	2.63e-05	2.628e-05	1.285e-05	4.039e-05	2.415e-05	8.15e-06	5.14e-06	.	.	2.415e-05	0	0	0	0	0.0003	0	0	0	0	0.232	0.68238	T	0.238	0.24549	T	0.597	0.39250	P	0.084	0.29270	B	0.010385	0.29945	N	0.378699	1	0.81001	D	1.04	0.26193	L	.	.	.	0.19	0.24460	N	0.361	0.63544	-0.7947	0.55456	T	0.161	0.49581	T	9	0.11376026	0.21381	T	0.006091	0.15934	T	0.081	0.23632	0.317	0.29419	0.301122078929	0.29733	0.402031483724579	0.40119	0.810766366469	0.66716	0.562687635422	0.47646	T	0.020714	0.16257	T	-0.100953	0.36268	T	-0.201261	0.54527	T	0.0740211019552082	0.09205	T	0.875712	0.58780	D	0.07611204	0.17193	0.060212784	0.11430	0.07611204	0.17193	0.060212784	0.11430	-2.989	0.10063	T	.	.	0.085	0.55438	B	.;.;.	.;.;.	3.299652	0.45293	22.1	0.75917894308196421	0.11262	0.95736	0.65935	D	AEFBI	0.388889	0.46832	N	0.318268505511594	0.57086	3.874751	0.446618151191968	0.64499	4.706611	0.999990013991147	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.58	5.58	0.84361	5.614000	0.67376	11.777000	0.96009	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	19.917	0.97067	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1112.98	98	chr11	106010469	.	G	A	1112.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.43;DP=787;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=0.032;SOR=0.603	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1154	20	0	1	0
chr11	106010659	106010659	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259A:p.A87T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.002	B	0.003	B	0.000	D	0.991	D	1.5	L	.	.	-0.882	T	0.177	T	0.291	2.535	14.44	5.88	2.782	0.899	9.319	0.144	0.0031863420769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.25457	T	0.456	0.54934	T	0.002	0.09854	B	0.003	0.08700	B	0.000011	0.62929	D	0.111292	0.991109	0.41309	D	0.55	0.14455	N	.	.	.	-1.05	0.27463	N	0.139	0.13769	-0.8825	0.49561	T	0.177	0.52240	T	9	0.14178061	0.26937	T	0.003186	0.06966	T	0.144	0.38394	0.324	0.30549	0.333651784274	0.32972	0.3745214875372276	0.37366	0.306637953789	0.32968	0.538885176182	0.44288	T	0.040073	0.25406	T	-0.0969372	0.36933	T	-0.37702	0.36071	T	0.432566970586777	0.30156	T	0.762724	0.38847	T	0.054357305	0.10418	0.07319845	0.15878	0.054357305	0.10417	0.07319845	0.15878	-3.821	0.21119	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	3.124977	0.42209	21.5	0.99583064835214086	0.73099	0.90270	0.51314	D	AEFGBI	0.218300	0.34332	N	-0.0132163549372124	0.41258	2.464544	0.177121742542613	0.48595	3.073425	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.375	5350.67	112	chr11	106010659	.	C	T,G	5350.67	.	AC=6,6;AF=0.188,0.188;AN=32;BaseQRankSum=-4.593e+00;DP=3242;ExcessHet=9.6308;FS=273.412;InbreedingCoeff=-0.5523;MLEAC=7,7;MLEAF=0.219,0.219;MQ=60.00;MQRankSum=0.00;QD=2.70;ReadPosRankSum=2.88;SOR=12.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:130,0,12:142:52:0|1:106010659_C_G:52,443,5902,0,5459,5423:106010659	4	0	6	5
chr11	106010659	106010659	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259C:p.A87P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.789	P	0.266	B	0.000	D	0.997	D	1.5	L	.	.	-0.909	T	0.128	T	0.715	2.775	15.24	5.88	2.782	0.899	9.319	0.141	0.00459803515366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.232	0.56192	T	0.789	0.44570	P	0.266	0.39732	B	0.000011	0.62929	D	0.111292	0.997442	0.43893	D	0.895	0.22405	L	.	.	.	-1.67	0.45404	N	0.439	0.47765	-0.9091	0.46965	T	0.128	0.43524	T	9	0.3502357	0.51900	T	0.004598	0.11377	T	0.141	0.37795	0.425	0.47021	0.354822389136	0.35094	0.7275256235572604	0.72696	0.716697243913	0.62006	0.596363663673	0.52391	T	0.064719	0.32505	T	0.133721	0.67721	D	-0.0456953	0.67316	D	0.881986200809479	0.53207	D	0.772023	0.40277	T	0.39838198	0.60620	0.35209376	0.60793	0.39838198	0.60621	0.35209376	0.60792	-6.644	0.51388	T	.	.	0.505	0.65603	A	.;.;.	.;.;.	3.825878	0.55270	23.6	0.996785884463948	0.79108	0.93283	0.57804	D	AEFGBI	0.427184	0.49123	N	0.316991759729759	0.57021	3.867974	0.412391093461756	0.62335	4.447326	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	5350.67	112	chr11	106010659	.	C	T,G	5350.67	.	AC=6,6;AF=0.188,0.188;AN=32;BaseQRankSum=-4.593e+00;DP=3242;ExcessHet=9.6308;FS=273.412;InbreedingCoeff=-0.5523;MLEAC=7,7;MLEAF=0.219,0.219;MQ=60.00;MQRankSum=0.00;QD=2.70;ReadPosRankSum=2.88;SOR=12.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:130,0,12:142:52:0|1:106010659_C_G:52,443,5902,0,5459,5423:106010659	4	0	6	5
chr11	106010660	106010660	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G258C:p.K86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.001	B	0.002	B	0.001	D	0.672	N	0	N	.	.	-1.080	T	0.039	T	0.091	0.671	7.594	3.03	0.836	0.969	1.144	0.035	0.00140864098182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.794e-06	5.338e-05	6.814e-06	2.753e-06	1.16e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.502e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.09572	T	0.455	0.12776	T	0.001	0.07471	B	0.002	0.06944	B	0.000777	0.41888	D	0.252245	0.672182	0.30354	N	1.1	0.28011	L	.	.	.	-0.42	0.25986	N	0.046	0.01825	-1.0800	0.07349	T	0.039	0.16935	T	9	0.07250753	0.10832	T	0.001409	0.02088	T	0.035	0.08770	0.333	0.32005	0.180583059064	0.17676	0.42697714804244885	0.42614	0.368530488454	0.38403	0.557739257812	0.46948	T	0.028728	0.20742	T	-0.209044	0.19513	T	-0.538054	0.18489	T	0.29334169626236	0.24729	T	0.788921	0.43637	T	0.06988713	0.15349	0.040901218	0.04526	0.06988713	0.15349	0.040901218	0.04526	-4.897	0.35701	T	.	.	0.261	0.51359	B	.;.;.	.;.;.	2.485158	0.32052	18.93	0.96605095872499003	0.30423	0.93307	0.57867	D	AEFGBI	0.282833	0.39607	N	-0.459278369652404	0.23427	1.257956	-0.24408778769958	0.29975	1.683831	0.956715357216671	0.28262	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	3.03	0.34070	0.769000	0.26267	2.724000	0.34335	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2344:0.4203:0.1184:0.227	1.144	0.01662	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4333	6124.11	112	chr11	106010660	.	C	G	6124.11	.	AC=13;AF=0.433;AN=30;BaseQRankSum=-2.788e+00;DP=3216;ExcessHet=11.8493;FS=276.657;InbreedingCoeff=-0.6434;MLEAC=16;MLEAF=0.533;MQ=60.00;MQRankSum=0.00;QD=2.88;ReadPosRankSum=2.98;SOR=12.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,12:142:52:0|1:106010659_C_G:52,0,5423:106010659	2	0	13	6
chr11	106010663	106010663	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G255A:p.M85I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.002	B	0.004	B	0.000	D	0.902	D	0	N	.	.	-0.984	T	0.104	T	0.262	2.319	13.71	5.88	2.782	2.233	15.669	0.047	0.00279040284091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.465	0.47097	T	0.002	0.09854	B	0.004	0.10090	B	0.000001	0.84330	D	0.055431	0.902327	0.36202	D	-0.69	0.01958	N	.	.	.	-0.5	0.23156	N	0.133	0.12913	-0.9843	0.33998	T	0.104	0.38218	T	9	0.1143381	0.21509	T	0.00279	0.05810	T	0.047	0.12962	0.294	0.25720	0.256793551483	0.25290	0.12417175146048018	0.12343	0.345896987908	0.36490	0.592615962029	0.51864	T	0.021651	0.16823	T	-0.0923724	0.37684	T	-0.370463	0.36834	T	0.580747902393341	0.35647	D	0.831217	0.49813	T	0.22625625	0.45303	0.16779238	0.38690	0.22625625	0.45303	0.16779238	0.38689	-3.688	0.19141	T	.	.	0.249	0.48345	B	.;.;.	.;.;.	3.089872	0.41597	21.4	0.98105666193469465	0.38310	0.97626	0.75993	D	AEFGBI	0.400041	0.47508	N	-0.174858718993864	0.34183	1.948093	0.081881515894591	0.43638	2.661421	0.99999720305351	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.803000	0.38500	5.949000	0.51615	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8636:0.1364:0.0	15.669	0.77014	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1786	2573.14	115	chr11	106010663	.	C	T,G	2573.14	.	AC=2,3;AF=0.071,0.107;AN=28;BaseQRankSum=-4.138e+00;DP=2832;ExcessHet=1.1607;FS=230.122;InbreedingCoeff=-0.2534;MLEAC=3,4;MLEAF=0.107,0.143;MQ=60.00;MQRankSum=0.00;QD=2.96;ReadPosRankSum=2.64;SOR=10.505	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:137,0,11:148:15:0|1:106010659_C_G:15,427,6069,0,5642,5609:106010659	9	0	2	7
chr11	106010663	106010663	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G255C:p.M85I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.002	B	0.004	B	0.000	D	0.906	D	0	N	.	.	-0.988	T	0.104	T	0.262	2.196	13.30	5.88	2.782	2.233	15.669	0.043	0.0028274219259	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.465	0.47097	T	0.002	0.09854	B	0.004	0.10090	B	0.000001	0.84330	D	0.055431	0.905747	0.36282	D	-0.69	0.01958	N	.	.	.	-0.5	0.23156	N	0.133	0.12913	-0.9883	0.33027	T	0.104	0.38218	T	9	0.11421201	0.21482	T	0.002827	0.05927	T	0.043	0.11576	0.294	0.25720	0.256793551483	0.25290	0.12417172391841125	0.12343	0.345896987908	0.36490	0.592615962029	0.51864	T	0.021651	0.16823	T	-0.0923564	0.37687	T	-0.37044	0.36836	T	0.580747902393341	0.35647	D	0.831217	0.49813	T	0.22625625	0.45303	0.16779238	0.38690	0.22625625	0.45303	0.16779238	0.38689	-3.688	0.19141	T	.	.	0.249	0.48345	B	.;.;.	.;.;.	3.013320	0.40302	21.1	0.9790952007803857	0.36801	0.97322	0.74021	D	AEFGBI	0.400041	0.47508	N	-0.174858718993864	0.34183	1.948093	0.081881515894591	0.43638	2.661421	0.99999720305351	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.803000	0.38500	5.949000	0.51615	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8636:0.1364:0.0	15.669	0.77014	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1786	2573.14	115	chr11	106010663	.	C	T,G	2573.14	.	AC=2,3;AF=0.071,0.107;AN=28;BaseQRankSum=-4.138e+00;DP=2832;ExcessHet=1.1607;FS=230.122;InbreedingCoeff=-0.2534;MLEAC=3,4;MLEAF=0.107,0.143;MQ=60.00;MQRankSum=0.00;QD=2.96;ReadPosRankSum=2.64;SOR=10.505	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:137,0,11:148:15:0|1:106010659_C_G:15,427,6069,0,5642,5609:106010659	9	0	2	7
chr11	106010664	106010664	A	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.T254C:p.M85T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.007	B	0.034	B	0.000	D	0.974	D	0	N	.	.	-0.972	T	0.117	T	0.382	2.309	13.68	5.88	2.244	5.797	16.275	0.101	0.00433488665054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.369e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.019	0.69154	D	0.007	0.14184	B	0.034	0.22546	B	0.000001	0.84330	D	0.055431	0.974346	0.39097	D	0	0.06538	N	.	.	.	-0.98	0.25986	N	0.258	0.29197	-0.9720	0.36776	T	0.117	0.41209	T	9	0.18700442	0.34192	T	0.004335	0.10529	T	0.101	0.28911	0.307	0.27806	0.379881503574	0.37595	0.25955710480305316	0.25869	0.399169766946	0.40951	0.666570842266	0.62349	T	0.035133	0.23597	T	0.00410563	0.52221	T	-0.231879	0.51589	T	0.783289670944214	0.45256	D	0.79692	0.44048	T	0.42211768	0.62233	0.30941108	0.56956	0.42211768	0.62233	0.30941108	0.56955	-1.765	0.02407	T	.	.	0.407	0.59964	A	.;.;.	.;.;.	3.510524	0.49159	22.7	0.97899140483582825	0.36731	0.98220	0.80657	D	AEFGBI	0.640959	0.61847	D	-0.0622681486623968	0.39056	2.297149	0.183205801398182	0.48926	3.102239	0.999999972724126	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	6.214000	0.72143	11.169000	0.87908	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.275	0.82465	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2222	2371.93	115	chr11	106010664	.	A	G	2371.93	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-2.480e+00;DP=2731;ExcessHet=0.6776;FS=248.284;InbreedingCoeff=-0.3238;MLEAC=7;MLEAF=0.389;MQ=60.00;MQRankSum=0.00;QD=3.64;ReadPosRankSum=3.40;SOR=10.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,11:149:12:0|1:106010659_C_G:12,0,5625:106010659	5	0	4	12
chr11	106010667	106010667	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G251A:p.R84K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.0	B	0.002	B	0.002	N	0.844	D	1.1	L	.	.	-0.878	T	0.136	T	0.242	0.103	4.556	4.01	1.493	2.934	12.064	0.042	0.00259240547793	.	0.000199681	8.238e-06	0	0	0	0	0	0	6.056e-05	1.29e-05	2	154602	rs561321456	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	6.572e-06	1.313e-05	1.286e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.218	0.19090	T	0.747	0.04860	T	0.0	0.02946	B	0.002	0.06944	B	0.002354	0.36727	N	0.299972	0.844051	0.35114	D	0.69	0.16971	N	.	.	.	-0.07	0.08495	N	0.114	0.10198	-0.8777	0.49943	T	0.136	0.45241	T	9	0.07382545	0.11204	T	0.002592	0.05235	T	0.042	0.11227	0.367	0.37524	0.274366138417	0.27033	0.40402514392590105	0.40318	0.389484333747	0.40189	0.525025010109	0.42334	T	0.028825	0.20791	T	-0.16679	0.25721	T	-0.380505	0.35662	T	0.222574869783589	0.21591	T	0.680032	0.28847	T	0.098485895	0.23231	0.10551929	0.25367	0.098485895	0.23231	0.10551929	0.25367	-3.047	0.10696	T	.	.	0.080	0.07697	B	.;.;.	.;.;.	2.801802	0.36860	20.4	0.67663913896592942	0.08422	0.86253	0.45498	D	AEFGBI	0.191163	0.31837	N	-0.163816012127879	0.34649	1.980253	0.0201264286488667	0.40651	2.429427	0.997302788968075	0.35478	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	4.01	0.45821	2.982000	0.49027	4.834000	0.45225	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8616:0.0:0.1384	12.064	0.52876	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	234.06	113	chr11	106010667	.	C	T	234.06	.	AC=1;AF=0.050;AN=20;BaseQRankSum=-3.220e+00;DP=2427;ExcessHet=0.0000;FS=311.086;InbreedingCoeff=-0.1831;MLEAC=2;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=1.10;ReadPosRankSum=2.61;SOR=7.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:135,0:145:99:0|1:106010659_C_G:0,406,5918:106010659	9	0	1	11
chr11	106054142	106054142	A	C	exonic	KBTBD3	.	nonsynonymous SNV	KBTBD3:NM_001330359:exon3:c.T310G:p.L104V	.	.	441	1075	6	0	0	6	0.00278293	.	.	3272178	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.425	B	0.136	B	0.011	N	1.000	N	1.355	L	-0.35	T	-0.842	T	0.186	T	0.379	0.509	6.757	-2.29	-0.297	0.387	14.067	0.112	0.0397538975148	0.0002	0.000199681	0.0003	0	0.0008	0	0	0.0002	0	0.0006	0.0002199	34	154602	rs138578492	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	0.0001	0.0009	0.0007	0.0001	0.0005	7.659e-05	0	0	0.0017	0.0001	0.0002	0.0007	0.0001	0.0001	0.0001	0.0002	0.0006	8.658e-05	7.251e-05	0.0002	8.989e-05	0.0002	0	0	0	0	0	0	0.0001	0	0.0006	0.164	0.23360	T	0.191	0.31427	T	.	.	.	.	.	.	0.011081	0.29665	N	0.351372	1	0.08975	N	.	.	.	-0.35	0.68616	T	0.45	0.03191	N	0.371	0.52829	-0.8424	0.52486	T	0.186	0.53526	T	10	0.048363566	0.04276	T	0.039754	0.58991	D	0.112	0.31546	.	.	0.581788271231	0.57850	0.19960741259531312	0.19877	0.18827095744	0.21156	0.558083176613	0.46996	T	.	.	.	-0.321387	0.06785	T	-0.341942	0.40125	T	0.0172024555853503	0.00463	T	0.824917	0.48720	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.02065	B	.;.;.	.;.;.	0.862815	0.12354	8.891	0.80704294782379948	0.13329	0.65886	0.32889	D	AEI	0.122978	0.23837	N	-0.728637916359737	0.15220	0.7651369	-0.674978886877872	0.17588	0.9358457	3.44076391546184E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.86	-2.29	0.06419	0.609000	0.23935	0.867000	0.22280	-0.562000	0.04833	0.994000	0.38300	0.976000	0.30059	0.975000	0.56047	0.5717:0.0:0.4283:0.0	14.067	0.64357	748	0.52143	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	861.98	38	chr11	106054142	.	A	C	861.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=819;ExcessHet=0.0000;FS=2.985;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.47;ReadPosRankSum=1.32;SOR=1.138	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1114	20	0	1	0
chr11	107348964	107348966	CAA	-	exonic	CWF19L2	.	nonframeshift deletion	CWF19L2:NM_152434:exon14:c.2173_2175del:p.L725del,	.	.	435	1037	49	1	0	51	0.024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0083	0.00459265	0.0049	0.0007	0.0025	0	0.0002	0.0037	0.0078	0.0191	0.000461	12	26028	rs368279169	0.0030	0.0030	0.0023	0.0036	0.0209	0.0029	0.0029	0.0184	0.0180	0.0005	0.0022	0.0169	2.532e-05	7.507e-05	0.0209	0.0016	0.0042	0.0191	0.0025	0.0025	0.0022	0.0029	0.0197	0.0023	0.0022	0.0165	0.0153	0.0004	0	0.0019	0.0216	0	9.429e-05	0.0170	0.0022	0.0066	0.0197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2926.07	33	chr11	107348963	.	CCAA	C	2926.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.62;DP=781;ExcessHet=0.1072;FS=1.467;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=23.60;ReadPosRankSum=0.352;SOR=0.898	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1353	19	0	2	0
chr11	107551891	107551891	C	A	exonic	ALKBH8	.	nonsynonymous SNV	ALKBH8:NM_001301010:exon6:c.G617T:p.S206I	.	.	474	1047	1	0	0	1	0.000477327	.	.	2431171	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.19	T	0.863	P	0.355	B	0.036	N	1.000	N	1.01	L	2.74	T	-1.059	T	0.052	T	0.381	0.453	6.459	4.86	1.451	0.846	6.633	0.082	0.0077941741034	.	.	5.134e-05	0	8.856e-05	0	0	7.835e-05	0	0	3.88e-05	6	154602	rs777536795	3.03e-05	3.694e-05	2.724e-05	3.341e-05	0.0004	2.269e-05	2.012e-05	6.27e-05	2.587e-05	0	6.287e-05	0	0	0	0.0004	3.058e-05	7.02e-05	1.371e-05	6.594e-06	6.569e-06	1.289e-05	0	1.473e-05	0	0	.	.	0	0	0	0	0	0	0	1.473e-05	0	0	0.221	0.27544	T	0.221	0.29945	T	0.863	0.47474	P	0.355	0.42984	B	0.036160	0.24557	N	0.470065	1	0.08975	N	1.4	0.35362	L	2.74	0.30133	T	-1.83	0.50830	N	0.269	0.30574	-1.0588	0.12058	T	0.052	0.22230	T	10	0.168926	0.31471	T	0.007794	0.20668	T	0.082	0.23913	0.473	0.54859	0.284150004643	0.28039	0.33830989140630435	0.33743	0.0189235159558	0.01841	0.316958189011	0.12960	T	0.071908	0.34324	T	-0.289203	0.09716	T	-0.450542	0.27637	T	0.219402134418488	0.21434	T	0.427157	0.11500	T	0.17186342	0.37845	0.08536368	0.19705	0.17186342	0.37845	0.08536368	0.19705	-4.931	0.36082	T	.	.	0.083	0.09239	B	.;.;.;.	.;.;.;.	1.836377	0.23329	15.98	0.89536537154108053	0.18881	0.14661	0.18520	N	AEFBI	0.142377	0.26480	N	-0.122959219538911	0.36394	2.103061	-0.125296529169773	0.34374	1.976508	0.25870025785864	0.18764	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.77	4.86	0.62624	0.871000	0.27675	-0.292000	0.10184	-0.177000	0.10537	0.001000	0.13787	0.000000	0.08366	0.374000	0.26200	0.0:0.6823:0.1593:0.1584	6.633	0.22060	744	0.52588	Alpha-ketoglutarate-dependent dioxygenase AlkB-like;.;Alpha-ketoglutarate-dependent dioxygenase AlkB-like;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	755.98	33	chr11	107551891	.	C	A	755.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.951;DP=744;ExcessHet=0.0000;FS=1.903;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.08;ReadPosRankSum=-1.185e+00;SOR=0.941	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1039	20	0	1	0
chr11	107803143	107803143	A	G	exonic	SLC35F2	.	nonsynonymous SNV	SLC35F2:NM_017515:exon7:c.T797C:p.V266A,	.	.	421	1090	11	0	0	11	0.00502054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.003	B	0.006	B	0.019	N	0.997	N	0.645	N	-0.37	T	-0.961	T	0.155	T	0.134	0.984	9.017	4.0	0.810	2.045	7.967	0.084	0.0114626208749	0.0002	.	0.0007	0	0.0004	0	0	0.0003	0	0.0038	0.0005498	85	154602	rs199857798	0.0004	0.0004	0.0003	0.0006	0.0045	0.0004	0.0004	0.0036	0.0035	3.015e-05	0.0002	0	0	0	0.0045	0.0002	0.0006	0.0040	0.0001	0.0001	0.0001	0.0001	0.0025	9.142e-05	7.698e-05	0.0014	0.0011	0	0	0.0001	0	0	0	0	8.819e-05	0.0005	0.0025	0.277	0.22138	T	0.342	0.19362	T	0.003	0.11197	B	0.006	0.12133	B	0.019292	0.27290	N	0.376195	0.996883	0.22868	N	-0.515	0.02571	N	-0.37	0.68892	T	-1.39	0.34397	N	0.317	0.36043	-0.9613	0.38936	T	0.155	0.48653	T	10	0.0115739405	0.00252	T	0.011463	0.29107	T	0.084	0.24469	.	.	0.560190409015	0.55679	0.23086117466979056	0.23001	0.173827038796	0.19575	0.488868057728	0.37281	T	0.037063	0.24339	T	-0.478526	0.00754	T	-0.461619	0.26422	T	0.0178742638766483	0.00514	T	0.680832	0.28956	T	0.060384404	0.12385	0.068282165	0.14240	0.060384404	0.12384	0.068282165	0.14240	-7.834	0.62828	D	.	.	0.077	0.06571	B	.;.;.	.;.;.	1.929154	0.24505	16.42	0.9675118362438454	0.30961	0.74507	0.36450	D	AEFBI	0.037118	0.05053	N	-0.443540278589653	0.23959	1.29036	-0.30756533704716	0.27853	1.548569	0.00124241050494706	0.08372	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.13	4.0	0.45673	2.058000	0.41001	3.541000	0.39004	0.691000	0.84096	0.985000	0.35982	1.000000	0.68203	0.527000	0.29637	0.7683:0.0:0.2317:0.0	7.967	0.29266	734	0.53889	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1049.98	33	chr11	107803143	.	A	G	1049.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.639;DP=804;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.00;ReadPosRankSum=1.61;SOR=0.759	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr11	108251973	108251973	T	C	exonic	ATM	.	nonsynonymous SNV	ATM:NM_000051:exon11:c.T1744C:p.F582L	Ataxia-telangiectasia, Autosomal recessive;Lymphoma, B-cell non-Hodgkin, somatic (3);Lymphoma, mantle cell, somatic (3);T-cell prolymphocytic leukemia, somatic (3)	YES	1	1484	37	0	0	37	0.0123128	.	.	132799	not_specified|Familial_cancer_of_breast|not_provided|Breast_and/or_ovarian_cancer|Ataxia-telangiectasia_syndrome|Hereditary_cancer-predisposing_syndrome|Malignant_tumor_of_breast	MedGen:CN169374|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MedGen:C3661900|MedGen:CN221562|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900,Orphanet:100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0007254,MedGen:C0006142	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.71	T	0.0	B	0.001	B	0.013	N	1.000	N	1.175	L	0.55	T	-1.027	T	0.068	T	0.69	-0.024	3.890	1.13	-0.045	0.130	9.764	0.272	0.00632949868566	0.0006	0.00259585	0.0010	0.0003	0.0014	0	0	0.0010	0.0033	0.0018	0.0010673	165	154602	rs2235006	0.0008	0.0008	0.0007	0.0009	0.0229	0.0008	0.0008	0.0197	0.0185	0.0008	0.0016	0.0007	0	0	0.0229	0.0006	0.0017	0.0019	0.0008	0.0008	0.0007	0.0009	0.0018	0.0007	0.0006	0.0013	0.0011	0.0002	0	0.0018	0.0003	0	0	0.0102	0.0010	0.0038	0.0014	1.0	0.00964	T	0.221	0.25827	T	0.0	0.02946	B	0.001	0.04355	B	0.013257	0.28902	N	0.409630	0.999837	0.20152	N	0.69	0.16971	N	0.55	0.54728	T	-0.37	0.16393	N	0.079	0.21580	-1.0270	0.21429	T	0.068	0.27777	T	10	0.0050537884	0.00109	T	0.006329	0.16639	T	0.272	0.58758	0.737	0.86978	0.819883778855	0.81818	0.15030838992287476	0.14952	0.144979564381	0.16386	0.368464320898	0.20611	T	0.073865	0.34800	T	-0.352246	0.04587	T	-0.291983	0.45566	T	0.000667495086760846	0.00006	T	0.610839	0.23175	T	0.08629755	0.20053	0.10082258	0.24117	0.07361293	0.16461	0.0899903	0.21076	-2.303	0.04571	T	0.21292882189483592	0.28582	0.451	0.62236	A	.;.;.	.;.;.	0.752413	0.11221	7.853	0.55554340149940129	0.05366	0.26494	0.23009	N	AEFBI	0.038653	0.05500	N	-0.730072476973633	0.15181	0.7627831	-0.627980968104417	0.18775	1.004481	0.717382268493451	0.22891	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.03	1.13	0.19758	0.131000	0.15696	-0.914000	0.06944	-0.123000	0.13640	0.351000	0.25767	0.000000	0.08366	0.858000	0.40661	0.0:0.2561:0.0:0.7439	9.764	0.39715	126	0.94940	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0.02381	997.98	41	chr11	108251973	.	T	C	997.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.784;DP=772;ExcessHet=0.0000;FS=1.736;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=-6.740e-01;SOR=0.920	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1099	20	0	1	0
chr11	108331989	108331989	A	C	exonic	ATM	.	nonsynonymous SNV	ATM:NM_000051:exon52:c.A7740C:p.R2580S	Ataxia-telangiectasia, Autosomal recessive;Lymphoma, B-cell non-Hodgkin, somatic (3);Lymphoma, mantle cell, somatic (3);T-cell prolymphocytic leukemia, somatic (3)	YES	.	.	.	.	.	.	.	.	.	132905	not_provided|Ovarian_cancer|Familial_cancer_of_breast|ATM-related_disorder|Hereditary_cancer-predisposing_syndrome|Ataxia-telangiectasia_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|.|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900,Orphanet:100|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.3	T	0.001	B	0.003	B	0.000	D	1.000	D	2.045	M	-1.2	T	-0.713	T	0.317	T	0.598	0.742	7.937	2.08	0.604	0.760	6.687	0.363	0.10685354457	.	0.000599042	4.13e-05	0	0.0002	0	0	4.508e-05	0	0	5.82e-05	9	154602	rs199915459	6.089e-05	6.088e-05	6.126e-05	6.051e-05	0.0005	5.028e-05	4.672e-05	0.0004	0.0003	0.0001	0.0005	0	0	0	0.0002	3.777e-05	0.0003	1.159e-05	0.0003	0.0003	0.0003	0.0003	0.0020	0.0002	0.0002	0.0015	0.0013	7.215e-05	0	0.0020	0	0	0	0	8.819e-05	0.0024	0	0.132	0.26519	T	0.841	0.03600	T	0.001	0.07471	B	0.003	0.08700	B	0.000070	0.52346	D	0.186382	1	0.81001	D	2.71	0.79292	M	-1.2	0.78537	T	-0.98	0.25986	N	0.345	0.52386	-0.7134	0.59786	T	0.317	0.68637	T	10	0.026328593	0.00802	T	0.106854	0.78266	D	0.363	0.68319	0.496	0.58520	0.757967309945	0.75577	0.5729483782031736	0.57222	0.142587795851	0.16085	0.447275221348	0.31573	T	0.050935	0.28737	T	-0.156566	0.27288	T	-0.160952	0.58266	T	0.03757357264184	0.03256	T	0.680832	0.28956	T	0.16546224	0.36820	0.13712975	0.32785	0.16546224	0.36819	0.13712975	0.32784	-3.618	0.18118	T	.	.	0.285	0.51772	B	.;.	.;.	2.195376	0.27999	17.65	0.85510436981201221	0.15938	0.79418	0.39350	D	AEFBI	0.244151	0.36531	N	-0.581005209925124	0.19521	1.022373	-0.502902102901758	0.22074	1.197187	0.00516952995343374	0.10849	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	2.08	0.26079	0.807000	0.26800	1.281000	0.25351	-0.151000	0.12117	0.991000	0.37257	1.000000	0.68203	0.706000	0.34326	0.4928:0.0:0.5072:0.0	6.687	0.22340	147	0.94143	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1305.98	34	chr11	108331989	.	A	C	1305.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.792;DP=806;ExcessHet=0.0000;FS=4.315;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.45;ReadPosRankSum=7.000e-03;SOR=1.107	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1368	20	0	1	0
chr11	108498339	108498339	G	T	exonic	POGLUT3	.	nonsynonymous SNV	POGLUT3:NM_001363502:exon1:c.C28A:p.L10M	.	.	426	1082	13	1	0	15	0.00688389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.984	D	0.69	P	0.207	U	1.000	D	1.59	L	2.05	T	-1.108	T	0.067	T	0.287	3.347	17.27	2.12	0.847	0.591	9.616	0.060	.	.	0.00539137	0.0325	0	0	0	.	0	0	0.0381	0.001009	156	154602	rs533719914	0.0014	0.0014	0.0009	0.0019	0.0237	0.0013	0.0013	0.0226	0.0221	4.222e-05	0.0013	0.0004	0	0	0.0065	0.0004	0.0016	0.0237	0.0011	0.0011	0.0006	0.0016	0.0186	0.0009	0.0009	0.0155	0.0144	0.0002	0	0.0014	0.0020	0.0002	0	0.0103	0.0004	0.0033	0.0186	0.071	0.35165	T	0.101	0.38596	T	0.984	0.60733	D	0.69	0.53781	P	0.207057	0.16457	U	0.343629	0.58492	0.32406	D	.	.	.	2.05	0.20664	T	-0.33	0.12472	N	0.379	0.42050	-1.1077	0.03274	T	0.067	0.27606	T	10	0.003556937	0.00064	T	.	.	.	0.060	0.17295	0.378	0.39319	0.29132392195	0.28731	0.34091647280951937	0.34004	0.171698961565	0.19340	0.827331900597	0.86154	D	0.003259	0.02667	T	-0.442827	0.01245	T	-0.379591	0.35771	T	0.0734342214961868	0.09124	T	0.285971	0.05105	T	0.073757276	0.16503	0.10466809	0.25145	0.073757276	0.16502	0.10466809	0.25144	-9.87	0.73130	D	.	.	0.187	0.40424	B	.	.	3.068732	0.41238	21.3	0.95307938972839013	0.26636	0.39234	0.26167	N	ALL	0.054998	0.10047	N	-0.139619871753622	0.35679	2.052368	-0.290475841672583	0.28410	1.583962	0.999999999992173	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.47417	0.07244	0	0.372554	0.06265	0	.	.	3.03	2.12	0.26372	0.641000	0.24411	5.822000	0.50091	0.500000	0.22704	0.223000	0.24568	1.000000	0.68203	0.820000	0.38637	0.1127:0.0:0.8873:0.0	9.616	0.38854	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	356.98	34	chr11	108498339	.	G	T	356.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.071;DP=545;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.23;ReadPosRankSum=0.869;SOR=0.724	GT:AD:DP:GQ:PL	0/1:9,13:22:99:371,0,239	20	0	1	0
chr11	108512499	108512499	A	G	exonic	EXPH5	.	nonsynonymous SNV	EXPH5:NM_001144765:exon3:c.T2444C:p.I815T	Epidermolysis bullosa, nonspecific, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3252745	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.94	T	0.001	B	0.001	B	0.003	N	1.000	N	-0.205	N	4.32	T	-0.968	T	0.005	T	0.233	0.187	5.005	-11.8	-2.768	-3.849	4.361	0.040	0.0056293331433	.	.	0.0002	0	0.0002	0.0012	0	0.0001	0	0	0.0001229	19	154602	rs780651930	4.31e-05	4.309e-05	5.037e-05	3.576e-05	0.0007	3.443e-05	3.129e-05	0.0005	0.0005	2.987e-05	6.71e-05	0	0.0007	0	0	1.889e-05	3.312e-05	8.117e-05	5.251e-05	5.249e-05	7.708e-05	2.684e-05	0.0015	2.555e-05	1.828e-05	0.0008	0.0006	0	0	0	0	0.0015	0	0	0	0	0	0.901	0.03280	T	1.0	0.03232	T	.	.	.	.	.	.	0.002688	0.00908	N	2.634170	1	0.08975	N	.	.	.	4.32	0.03951	T	1.13	0.01595	N	0.012	0.00527	-0.9682	0.37571	T	0.005	0.01651	T	10	0.006309837	0.00142	T	0.005629	0.14560	T	0.040	0.10527	0.283	0.23961	0.0138822411134	0.00435	0.03890706956159884	0.03836	0.0427411458927	0.04614	0.221317887306	0.01387	T	0.007673	0.07062	T	-0.657301	0.00065	T	-0.741571	0.03825	T	0.0171706512736073	0.00461	T	0.232477	0.03154	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00487	B	.;.;.;.	.;.;.;.	-3.236248	0.00006	0.001	0.24523665560911245	0.01088	0.01002	0.03790	N	AEFBI	0.033378	0.03945	N	-2.13670322309729	0.00106	0.004544318	-2.2090184231761	0.00107	0.004695115	0.999999999948789	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.54472	0.12158	0	0.542086	0.14980	0	.	.	5.91	-11.8	0.00026	-3.800000	0.00408	-10.796000	0.00665	-0.742000	0.03659	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3248:0.3115:0.2918:0.0719	4.361	0.10637	819	0.41190	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	2697.98	35	chr11	108512499	.	A	G	2697.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.247;DP=1313;ExcessHet=0.0000;FS=1.668;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.85;ReadPosRankSum=0.569;SOR=0.815	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1291	20	0	1	0
chr11	108512523	108512523	G	A	exonic	EXPH5	.	nonsynonymous SNV	EXPH5:NM_001144765:exon3:c.C2420T:p.P807L	Epidermolysis bullosa, nonspecific, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1459966	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.102	B	0.032	B	0.198	N	1.000	N	1.935	M	4.28	T	-1.025	T	0.017	T	0.17	3.277	17.00	4.01	1.555	1.131	6.433	0.059	0.0161908338979	.	.	.	.	.	.	.	.	.	.	.	.	.	rs900955478	6.844e-07	6.84e-07	0	1.376e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	6.573e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.029	0.58613	D	.	.	.	.	.	.	0.197782	0.16679	N	0.584255	0.999999	0.08975	N	.	.	.	4.28	0.04151	T	-4.62	0.90023	D	0.083	0.05929	-1.0248	0.22148	T	0.017	0.06855	T	10	0.15851843	0.29807	T	0.016191	0.37323	T	0.059	0.16972	0.318	0.29581	0.293147016451	0.28931	0.1413023537204226	0.14053	0.201659407777	0.22570	0.248876973987	0.03650	T	0.132741	0.46300	T	-0.239122	0.15461	T	-0.581258	0.14432	T	0.720004200935364	0.41699	D	0.816718	0.47282	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.30971	B	.;.;.;.	.;.;.;.	1.436046	0.18546	13.80	0.99464872857475095	0.65996	0.09954	0.15590	N	AEFBI	0.091130	0.18461	N	-0.513019140841017	0.21659	1.151038	-0.534903245862264	0.21208	1.146182	0.996500484506433	0.34791	0.554377	0.28877	0	0.588066	0.40923	0	0.54472	0.12158	0	0.542086	0.14980	0	.	.	6.02	4.01	0.45821	1.165000	0.31432	1.669000	0.27944	0.676000	0.76740	0.002000	0.15269	0.043000	0.21642	0.017000	0.10941	0.092:0.0:0.6567:0.2513	6.433	0.21011	819	0.41190	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2139.98	35	chr11	108512523	.	G	A	2139.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.02;DP=1290;ExcessHet=0.0000;FS=5.240;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=-8.110e-01;SOR=0.942	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1291	20	0	1	0
chr11	108678355	108678355	-	ACTC	exonic	DDX10	.	frameshift insertion	DDX10:NM_004398:exon5:c.578_579insACTC:p.V195Tfs*14,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1193.94	35	chr11	108678355	.	T	TACTC	1193.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.202;DP=750;ExcessHet=0.0000;FS=11.282;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.26;ReadPosRankSum=0.113;SOR=0.991	GT:AD:DP:GQ:PL	0/1:31,31:62:99:1208,0,1209	20	0	1	0
chr11	108838459	108838459	C	T	exonic	DDX10	.	nonsynonymous SNV	DDX10:NM_004398:exon14:c.C1979T:p.S660F,	.	.	442	1073	7	0	0	7	0.00325128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.921	D	0.069	N	0.999	D	1.935	M	0.91	T	-0.693	T	0.232	T	0.461	4.196	21.8	5.72	2.695	4.431	16.596	0.226	0.015048755816	0.0003	0.000399361	0.0004	0	0	0	0	0.0006	0.0023	0.0006	0.000401	62	154602	rs138955971	0.0004	0.0004	0.0004	0.0004	0.0098	0.0004	0.0003	0.0077	0.0069	6.005e-05	0.0002	0.0015	0	0	0.0098	0.0003	0.0005	0.0007	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0001	0.0002	0.0001	0	0	0.0003	0.0014	0	0	0.0102	0.0003	0.0009	0.0004	0.014	0.53172	D	0.038	0.51421	D	0.998	0.73220	D	0.921	0.65636	D	0.068742	0.21651	N	0.467301	0.999321	0.46670	D	1.7	0.43825	L	0.91	0.44856	T	-2.5	0.54382	D	0.518	0.54845	-0.6933	0.60754	T	0.232	0.59794	T	10	0.043691903	0.03246	T	0.015049	0.35554	T	0.226	0.52472	.	.	0.627942663015	0.62490	0.04387403381389378	0.04331	0.283620578612	0.30797	0.416328191757	0.27331	T	0.166788	0.51317	T	-0.331084	0.06030	T	-0.341091	0.40220	T	0.1004618704319	0.12408	T	0.833317	0.50212	T	0.21020064	0.43309	0.23345849	0.48536	0.21020064	0.43309	0.23345849	0.48535	-5.28	0.39744	T	.	.	0.121	0.37727	B	.;.	.;.	4.746124	0.76591	26.5	0.99806204698875323	0.89085	0.96841	0.71229	D	AEFGBI	0.641600	0.61888	D	0.699365744334324	0.79592	7.110019	0.709360888505876	0.83091	7.931205	0.999989584597953	0.51787	0.706298	0.61202	0	0.633656	0.55848	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.72	5.72	0.89380	4.922000	0.63103	4.844000	0.45312	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	16.596	0.84648	869	0.31655	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	820.98	40	chr11	108838459	.	C	T	820.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.433;DP=774;ExcessHet=0.0000;FS=2.021;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=-8.470e-01;SOR=0.757	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1018	20	0	1	0
chr11	110137048	110137048	T	C	exonic	ZC3H12C	.	nonsynonymous SNV	ZC3H12C:NM_033390:exon2:c.T407C:p.I136T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.002	B	0.001	B	0.284	U	0.997	N	1.245	L	1.43	T	-1.006	T	0.069	T	0.399	1.272	10.15	3.23	0.369	3.497	8.933	0.093	0.00419241405635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.20230	T	0.461	0.12632	T	0.002	0.09854	B	0.001	0.04355	B	0.283769	0.03850	U	3.175200	0.997282	0.22721	N	1.74	0.45129	L	1.41	0.33412	T	0.47	0.03090	N	0.402	0.44283	-1.0061	0.28126	T	0.069	0.28080	T	10	0.047878504	0.04164	T	0.004192	0.10089	T	0.093	0.26882	0.244	0.17830	0.043077524339	0.03247	0.07244813160525947	0.07181	0.0384345900939	0.04090	0.530330896378	0.43082	T	0.015885	0.13236	T	-0.142298	0.29524	T	-0.442178	0.28564	T	0.390426695346832	0.28580	T	0.822818	0.48291	T	0.030423949	0.02704	0.051704537	0.08375	0.030423949	0.02703	0.051704537	0.08375	-2.861	0.08828	T	.	.	0.277	0.55754	B	.;.;.	.;.;.	1.675780	0.21359	15.17	0.88270742644043154	0.17847	0.23786	0.22188	N	AEDBI	0.083939	0.17008	N	-0.559045481328567	0.20200	1.063191	-0.478331633687502	0.22751	1.237319	0.962003031054898	0.28592	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.63	3.23	0.36150	2.383000	0.44008	0.966000	0.23025	0.660000	0.55035	0.801000	0.29734	0.162000	0.23270	0.992000	0.67800	0.1255:0.0:0.1318:0.7427	8.933	0.34844	476	0.77720	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	188.09	38	chr11	110137048	.	T	C	188.09	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.239e+00;DP=1488;ExcessHet=0.0000;FS=235.132;InbreedingCoeff=-0.0304;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.96;ReadPosRankSum=1.70;SOR=8.379	GT:AD:DP:GQ:PL	0/0:127,25:152:5:0,5,3089	20	0	1	0
chr11	110199644	110199644	G	T	exonic	RDX	.	nonsynonymous SNV	RDX:NM_001260496:exon7:c.C571A:p.R191S	Deafness, autosomal recessive 24, Autosomal recessive	.	8	1509	5	0	0	5	0.00165399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.866	P	0.735	P	.	.	1.000	D	.	.	0.97	T	0.177	D	0.571	D	0.386	2.650	14.82	4.79	2.941	3.817	13.648	0.261	0.141791798613	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1016821813	1.816e-05	1.59e-05	7.919e-06	2.683e-05	0.0002	9.18e-06	6.69e-06	1.185e-05	8.84e-06	0	0	0	0	0	0.0002	2.524e-05	0	1.593e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.98139	0.26865	N	.	.	.	-1.41	0.80560	T	-0.16	0.38345	N	0.382	0.64648	0.177	0.85520	D	0.571	0.84499	D	8	0.31010818	0.48491	T	0.141792	0.82419	D	0.261	0.57352	0.436	0.48828	0.532691155838	0.52918	0.6252043173955735	0.62453	0.190246609254	0.21341	0.559227585793	0.47159	T	.	.	.	0.0547193	0.58947	T	-0.159176	0.58426	T	0.903328955173492	0.55650	D	0.708429	0.31914	T	.	.	.	.	.	.	.	.	-2.735	0.08557	T	.	.	0.291	0.60254	B	.;.;.;.;.	.;.;.;.;.	4.128811	0.61766	24.4	0.98469850152691696	0.41837	0.78851	0.38967	D	AEFDBHCIJ	0.477218	0.52030	N	0.47037646701889	0.65367	4.813703	0.51184608339777	0.68785	5.268387	0.999999998016731	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.654281	0.52657	0	0.322989	0.05693	1	.	.	4.79	4.79	0.60909	3.841000	0.55557	7.957000	0.75973	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	13.648	0.61768	739	0.53257	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1631.98	37	chr11	110199644	.	G	T	1631.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=832;ExcessHet=0.0000;FS=1.476;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=-1.270e+00;SOR=0.892	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1334	20	0	1	0
chr11	111354305	111354305	C	T	exonic	POU2AF1	.	nonsynonymous SNV	POU2AF1:NM_006235:exon5:c.G727A:p.D243N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.008	B	0.004	B	0.005	N	1.000	N	0.805	L	1.39	T	-1.050	T	0.057	T	0.03	2.346	13.80	4.1	1.187	3.934	9.981	0.091	0.00570974248915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	3.42e-06	5.445e-06	1.375e-06	4.496e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434	0.09430	T	0.179	0.29540	T	0.008	0.14655	B	0.004	0.10090	B	0.004746	0.33426	N	0.239831	0.999983	0.18198	N	0.46	0.12951	N	1.39	0.33842	T	-2.35	0.51968	N	0.092	0.07125	-1.0496	0.14509	T	0.057	0.24130	T	10	0.13112116	0.24955	T	0.00571	0.14802	T	0.091	0.26358	0.594	0.72371	0.23798241625	0.23396	0.3550282439785532	0.35416	0.259709678954	0.28527	0.403230726719	0.25519	T	0.335649	0.70524	T	-0.321189	0.06801	T	-0.699142	0.05873	T	0.414706647396088	0.29494	T	0.815518	0.47040	T	0.05515931	0.10683	0.048234615	0.07119	0.05515931	0.10683	0.048234615	0.07119	-4.171	0.26330	T	.	.	0.082	0.08609	B	.	.	2.656825	0.34605	19.67	0.99530576045322838	0.69839	0.68194	0.33710	D	AEFDBCI	0.203641	0.33014	N	-0.336541862849867	0.27770	1.526277	-0.20361604460059	0.31406	1.777072	0.999999888499456	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.07	4.1	0.47196	3.983000	0.56625	4.101000	0.41864	0.599000	0.40250	0.993000	0.37899	0.996000	0.32793	0.274000	0.23868	0.0:0.8879:0.0:0.1121	9.981	0.40984	420	0.81451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	926.98	35	chr11	111354305	.	C	T	926.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.279;DP=816;ExcessHet=0.0000;FS=3.615;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.28;ReadPosRankSum=2.02;SOR=0.695	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1201	20	0	1	0
chr11	111723767	111723767	G	A	exonic	SIK2	.	nonsynonymous SNV	SIK2:NM_015191:exon15:c.G2419A:p.G807S,	.	.	430	1081	11	0	0	11	0.00506213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.94	T	0.0	B	0.001	B	0.613	N	1.000	N	1.1	L	1.97	T	-0.990	T	0.035	T	0.13	-0.848	0.554	0.955	0.153	-0.302	7.931	0.024	0.0092603941078	0.0002	0.00179712	0.0005	9.716e-05	8.663e-05	0	0	0.0001	0	0.0032	0.0005175	80	154602	rs145172527	0.0002	0.0002	0.0002	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	8.961e-05	0	0	0	1.878e-05	0.0005	6.655e-05	0.0004	0.0027	0.0002	0.0002	0.0002	0.0001	0.0025	0.0001	8.716e-05	0.0014	0.0011	9.628e-05	0	0	0	0	0	0.0034	8.82e-05	0	0.0025	0.697	0.04213	T	0.552	0.09361	T	0.0	0.02946	B	0.001	0.04355	B	0.613003	0.05711	N	1.235210	1	0.08975	N	0	0.06538	N	1.97	0.22067	T	0.1	0.05810	N	0.057	0.02861	-0.9898	0.32652	T	0.035	0.15291	T	10	0.00350219	0.00063	T	0.00926	0.24319	T	0.024	0.04979	.	.	0.138757226776	0.13463	0.1688466948677255	0.16804	0.269153642095	0.29430	0.443144619465	0.31007	T	0.099592	0.40455	T	-0.670592	0.00055	T	-0.7394	0.03916	T	0.00788493444768202	0.00093	T	0.483452	0.14697	T	0.025775414	0.01554	0.036470063	0.03101	0.025775414	0.01554	0.036470063	0.03101	-1.485	0.01734	T	.	.	0.068	0.02702	B	.	.	-0.024680	0.04115	0.974	0.58464042281808426	0.05999	0.05760	0.11690	N	AEFDBI	0.125721	0.24235	N	-1.25494775481599	0.04234	0.1907243	-1.25604041831453	0.05042	0.2393266	0.97265570304009	0.29389	0.562547	0.31514	0	0.577304	0.33150	0	0.651303	0.49530	0	0.635551	0.53088	0	.	.	4.98	0.955	0.18725	-0.019000	0.12487	1.974000	0.30001	-0.864000	0.02607	0.000000	0.06391	0.834000	0.27239	0.011000	0.09372	0.3456:0.0:0.6544:0.0	7.931	0.29061	98	0.95963	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1058.98	33	chr11	111723767	.	G	A	1058.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.06;DP=831;ExcessHet=0.0000;FS=2.435;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.54;ReadPosRankSum=0.154;SOR=0.969	GT:AD:DP:GQ:PL	0/1:80,44:124:99:1073,0,2066	20	0	1	0
chr11	111836229	111836229	G	A	exonic	ALG9	.	nonsynonymous SNV	ALG9:NM_001352409:exon12:c.C1004T:p.P335L	Congenital disorder of glycosylation, type Il;Gillessen-Kaesbach-Nishimura syndrome, Autosomal recessive	.	0	1485	37	0	0	37	0.0123046	.	.	177264	Gillessen-Kaesbach-Nishimura_syndrome|ALG9_congenital_disorder_of_glycosylation|not_specified|not_provided|ALG9-related_disorder	MONDO:MONDO:0009890,MedGen:C1849762,OMIM:263210|MONDO:MONDO:0012117,MedGen:C2931006,OMIM:608776,Orphanet:79328|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.41	T	0.483	P	0.163	B	0.000	N	1.000	D	1.145	L	-0.07	T	-0.888	T	0.179	T	0.479	3.457	17.71	5.2	2.586	7.795	19.093	0.127	0.0336632568633	0.0015	0.00239617	0.0027	0.0007	0.0009	0.0001	0.0002	0.0027	0.0022	0.0074	0.0026649	412	154602	rs185149177	0.0035	0.0035	0.0034	0.0036	0.0068	0.0034	0.0034	0.0063	0.0061	0.0003	0.0008	0.0030	0	0.0005	0.0054	0.0037	0.0033	0.0068	0.0020	0.0020	0.0021	0.0019	0.0058	0.0018	0.0018	0.0041	0.0036	0.0006	0.0044	0.0014	0.0020	0	0.0007	0.0034	0.0031	0.0024	0.0058	0.104	0.29959	T	0.138	0.34716	T	0.047	0.27304	B	0.025	0.28987	B	0.000007	0.62929	N	0.147742	1	0.81001	D	2.015	0.55033	M	-0.07	0.63738	T	-5.0	0.82341	D	0.607	0.72925	-0.8880	0.49105	T	0.179	0.52551	T	10	0.008098453	0.00184	T	0.033663	0.55143	D	0.169	0.43123	.	.	0.788021503808	0.78605	0.5538995121555957	0.55315	0.425138627803	0.42928	0.614278435707	0.54920	T	0.431527	0.77962	T	-0.298674	0.08785	T	-0.198215	0.54816	T	0.0385160776820125	0.03423	T	0.941106	0.78262	D	0.29010123	0.52002	0.22707318	0.47706	0.29010123	0.52002	0.22707318	0.47705	-8.14	0.69506	D	0.2835001838480206	0.37917	0.085	0.10400	B	.;.;.;.;.	.;.;.;.;.	4.022110	0.59410	24.1	0.99620067464578854	0.75353	0.97965	0.78484	D	AEFDBIJ	0.904817	0.85558	D	0.121574638116134	0.47471	2.97232	0.292554044619244	0.55102	3.673803	0.999996788867736	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	7.920000	0.86928	9.952000	0.82735	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	19.093	0.93221	81	0.96616	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	522.98	34	chr11	111836229	.	G	A	522.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.15;DP=759;ExcessHet=0.0000;FS=0.969;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.81;ReadPosRankSum=0.523;SOR=0.885	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,982	20	0	1	0
chr11	111875316	111875316	A	G	exonic	FDXACB1	.	nonsynonymous SNV	FDXACB1:NM_138378:exon5:c.T1481C:p.L494S,	.	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.96	D	0.000	D	0.999	D	2.18	M	-0.35	T	0.399	D	0.655	D	0.845	4.136	21.3	6.07	2.326	7.465	16.629	0.706	0.0843986154979	.	0.000399361	0.0003	0	0	0.0030	0	4.517e-05	0.0011	0.0004	0.0002587	40	154602	rs201937600	0.0001	0.0001	0.0001	0.0002	0.0034	0.0001	0.0001	0.0029	0.0028	0	0	0	0.0034	0	0	3.508e-05	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0027	8.164e-05	6.721e-05	0.0016	0.0013	0	0	0	0	0.0027	0	0	2.94e-05	0.0009	0.0002	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.96	0.70309	D	0.000141	0.49130	D	0.128820	0.999311	0.46639	D	2.36	0.67893	M	-0.35	0.68616	T	-2.17	0.49018	N	0.737	0.73735	0.399	0.89075	D	0.655	0.88004	D	10	0.0951308	0.16967	T	0.084399	0.74318	D	0.706	0.89468	.	.	0.826602860868	0.82496	0.8785579567618712	0.87822	0.346059605865	0.36514	0.54585981369	0.45273	T	0.174639	0.52393	T	-0.0510484	0.44287	T	0.152423	0.80338	D	0.0894504657957652	0.11152	T	0.659534	0.26859	T	0.15561391	0.35161	0.28888303	0.54906	0.15561391	0.35160	0.28888303	0.54905	-8.264	0.62855	D	.	.	0.683	0.72250	P	.	.	4.473539	0.69731	25.4	0.99848168582167796	0.92750	0.98521	0.83668	D	AEFBI	0.880411	0.80705	D	0.803135374643206	0.86301	8.841782	0.796486582693926	0.89547	10.02042	0.999999992567934	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	6.07	6.07	0.98675	7.645000	0.82580	11.188000	0.88560	0.756000	0.94297	0.979000	0.35152	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	16.629	0.84866	87	0.96348	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2241.98	36	chr11	111875316	.	A	G	2241.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=930;ExcessHet=0.0000;FS=0.550;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.74;ReadPosRankSum=0.241;SOR=0.745	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1229	20	0	1	0
chr11	111995109	111995109	G	A	splicing	DIXDC1	NM_001037954:exon15:c.1527+1G>A;NM_033425:exon11:c.894+1G>A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.952	15.84	5.28	2.747	4.594	15.773	.	.	0.0002	.	5.809e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs200500225	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	2.988e-05	0	0	0	0	0	0.0002	8.284e-05	0	5.914e-05	5.91e-05	0.0001	1.345e-05	0.0001	3.077e-05	2.21e-05	5.842e-05	4.239e-05	2.413e-05	0	0	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212738	0.75088	D	0.272357	0.86706	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.837213	0.78940	27.0	0.98875853064259678	0.47736	0.85745	0.44912	D	AEFBI	.	.	.	1.05822714774478	0.97280	15.86759	0.88936341588444	0.95091	13.30425	0.0127605060117101	0.12370	0.099367	0.02607	0	0.084543	0.02171	0	0.128073	0.03558	0	0.117559	0.03655	0	0.971359	0.73620	5.28	5.28	0.74118	4.817000	0.62340	11.567000	0.93263	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.845000	0.39915	0.0:0.0:1.0:0.0	15.773	0.77955	702	0.57624	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1615.98	39	chr11	111995109	.	G	A	1615.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=808;ExcessHet=0.0000;FS=0.675;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=0.099;SOR=0.622	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1338	20	0	1	0
chr11	112214814	112214814	G	A	exonic	BCO2	.	nonsynonymous SNV	BCO2:NM_001256398:exon8:c.G1166A:p.G389D	.	.	430	1068	23	1	0	25	0.0115687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	1.000	D	2.835	M	-3.54	D	1.035	D	0.913	D	0.886	4.583	24.9	4.9	1.455	9.234	14.293	0.759	0.293365816146	0.0021	0.000599042	0.0026	0.0002	0.0008	0	0	0.0028	0.0022	0.0074	0.0024062	372	154602	rs139612323	0.0024	0.0024	0.0021	0.0026	0.0095	0.0023	0.0023	0.0075	0.0068	0.0002	0.0013	0.0076	0	0.0002	0.0095	0.0021	0.0028	0.0072	0.0015	0.0015	0.0014	0.0015	0.0052	0.0013	0.0013	0.0036	0.0031	0.0002	0	0.0009	0.0063	0	0	0	0.0022	0.0038	0.0052	0.002	0.78490	D	0.003	0.76473	D	0.998	0.73220	D	0.973	0.72923	D	0.000000	0.84330	D	0.045838	1	0.81001	D	2.58	0.75369	M	-3.54	0.94799	D	-4.47	0.77881	D	0.95	0.95841	1.035	0.97804	D	0.913	0.97123	D	10	0.0858323	0.14530	T	0.293366	0.90639	D	0.910	0.97587	.	.	0.938140714169	0.93749	0.919297372627089	0.91905	0.423288817443	0.42795	0.51526337862	0.40960	T	0.650942	0.89407	D	0.156289	0.69857	D	0.455168	0.93712	D	0.051481616603211	0.05758	T	0.962304	0.90829	D	0.80129206	0.83988	0.8391546	0.90783	0.80129206	0.83989	0.8391546	0.90783	-9.861	0.76242	D	.	.	0.685	0.76179	P	.;.;.;.;.;.	.;.;.;.;.;.	4.897691	0.80468	27.3	0.99820268161618808	0.90326	0.98760	0.86500	D	AEFBI	0.941797	0.94555	D	0.854464077099419	0.89360	9.940139	0.798718644719191	0.89703	10.08612	0.999996331904234	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.81	4.9	0.63643	9.450000	0.96770	11.728000	0.94942	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0716:0.0:0.9284:0.0	14.293	0.65845	746	0.52331	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1176.98	33	chr11	112214814	.	G	A	1176.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=-1.114e+00;SOR=0.652	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1414	20	0	1	0
chr11	113231236	113231236	G	A	exonic	NCAM1	.	nonsynonymous SNV	NCAM1:NM_001242607:exon10:c.G1130A:p.G377E,	.	.	412	1087	23	0	0	23	0.0104688	.	.	2809854	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0052	0.0018	0	0	0	0.0143	0.0152	0.0012	0.0014748	228	154602	rs117219783	0.0071	0.0067	0.0071	0.0071	0.0151	0.0070	0.0069	0.0125	0.0116	0.0011	0.0027	0.0191	0	0.0022	0.0151	0.0079	0.0070	0.0018	0.0052	0.0052	0.0059	0.0045	0.0085	0.0049	0.0048	0.0079	0.0077	0.0014	0	0.0027	0.0228	0	0.0018	0.0170	0.0085	0.0052	0.0010	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.222	0.27554	.	.	.	.	.	.	.	0.0048000515	0.00102	T	.	.	.	.	.	.	.	0.72745045299	0.72503	0.22365881347720465	0.22280	.	.	0.300282180309	0.10442	T	0.249375	0.61932	T	-0.414135	0.01866	T	-0.36083	0.37956	T	.	.	.	0.443356	0.12326	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.24532	B	.;.	.;.	1.011621	0.13907	10.47	0.30373334228533333	0.01658	0.07756	0.13755	N	AEFBI	.	.	.	.	.	.	.	.	.	0.90115533656069	0.26094	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0841549	0.19180	4.73	2.71	0.31092	2.415000	0.44289	2.579000	0.33405	0.676000	0.76740	0.042000	0.21073	0.089000	0.22506	0.004000	0.06068	0.1047:0.0:0.6904:0.205	5.143	0.14300	645	0.63593	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	467.98	33	chr11	113231236	.	G	A	467.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.790e-01;DP=746;ExcessHet=0.0000;FS=1.053;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.36;ReadPosRankSum=-4.950e-01;SOR=0.787	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1115	20	0	1	0
chr11	113396141	113396141	T	C	exonic	ANKK1	.	nonsynonymous SNV	ANKK1:NM_178510:exon5:c.T757C:p.W253R,	Dopamine receptor D2, reduced brain density of (3)	.	411	1107	4	0	0	4	0.00180343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.84	T	0.143	B	0.114	B	0.011	U	0.655	D	0.58	N	-1.59	D	-0.729	T	0.278	T	0.13	-0.783	0.722	3.31	0.730	2.206	7.017	0.234	0.0384940449746	0.0011	0.00139776	0.0022	0.0002	0.0009	0	0.0017	0.0034	0.0022	0.0012	0.0021216	328	154602	rs201098042	0.0023	0.0023	0.0023	0.0022	0.0026	0.0022	0.0022	0.0025	0.0025	0.0002	0.0017	0.0008	0	0.0015	0.0003	0.0026	0.0021	0.0016	0.0021	0.0021	0.0023	0.0019	0.0071	0.0019	0.0018	0.0060	0.0056	0.0003	0.0011	0.0071	0.0006	0	0.0013	0	0.0025	0.0052	0.0012	0.98	0.02008	T	0.881	0.03214	T	0.143	0.27649	B	0.114	0.31755	B	0.011419	0.29543	U	0.166462	0.65492	0.32998	D	0.43	0.12624	N	-1.59	0.82076	D	-0.88	0.23808	N	0.181	0.19593	-0.7285	0.59039	T	0.278	0.64946	T	10	0.01052019	0.00234	T	0.038494	0.58257	D	0.234	0.53644	0.746	0.87738	0.435808882951	0.43200	0.42229941682698674	0.42146	0.105962483001	0.11982	0.385882377625	0.23087	T	0.100885	0.40711	T	-0.44911	0.01143	T	-0.422196	0.30822	T	0.0134395903315166	0.00244	T	0.373163	0.08852	T	0.055764724	0.10883	0.05946892	0.11167	0.055764724	0.10883	0.05946892	0.11167	-8.257	0.62808	D	.	.	0.435	0.61465	A	.	.	1.672183	0.21320	15.15	0.19248865700561457	0.00641	0.83110	0.42256	D	AEFBI	0.192320	0.31949	N	-0.89612337514483	0.10934	0.5250336	-0.817334142442949	0.14075	0.733596	0.230481585105612	0.18459	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.44	3.31	0.37025	2.182000	0.42186	1.824000	0.29063	-0.184000	0.09925	0.984000	0.35821	0.991000	0.31484	0.008000	0.08271	0.0:0.1794:0.0:0.8206	7.017	0.24074	857	0.34089	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	798.98	40	chr11	113396141	.	T	C	798.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.627e+00;DP=790;ExcessHet=0.0000;FS=6.349;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=-1.800e+00;SOR=1.483	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,111,1244	20	0	1	0
chr11	114530269	114530269	G	C	exonic	NXPE1	.	nonsynonymous SNV	NXPE1:NM_152315:exon3:c.C313G:p.P105A	.	.	431	1028	61	2	0	65	0.0306459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.998	D	0.000	D	0.783	N	3.155	M	1.92	T	-0.380	T	0.419	T	0.476	4.143	21.4	4.29	2.324	5.115	15.055	0.300	.	0.0036	0.00559105	0.0069	0.0011	0.0036	0.0002	0.0003	0.0060	0.0165	0.0222	0.0063065	975	154602	rs45609739	0.0056	0.0056	0.0050	0.0063	0.0227	0.0055	0.0055	0.0207	0.0204	0.0010	0.0036	0.0022	5.038e-05	0.0006	0.0227	0.0050	0.0068	0.0215	0.0042	0.0042	0.0039	0.0045	0.0189	0.0039	0.0038	0.0157	0.0146	0.0010	0.0340	0.0051	0.0020	0	0.0005	0.0204	0.0053	0.0085	0.0189	0.011	0.57480	D	0.037	0.56640	D	1.0	0.90584	D	0.998	0.88582	D	0.000032	0.55875	D	0.000000	1	0.08975	N	3.145	0.88303	M	1.81	0.64818	T	-5.65	0.93697	D	0.587	0.63035	-0.3800	0.72651	T	0.419	0.76503	T	10	0.005137056	0.00112	T	.	.	.	0.300	0.62068	.	.	0.389439708392	0.38560	0.4717352409557836	0.47092	0.16594407476	0.18725	0.33301743865	0.15389	T	0.236518	0.60401	T	-0.316631	0.07178	T	-0.210675	0.53631	T	0.0314134618907065	0.02212	T	0.90111	0.65631	D	0.39157385	0.60144	0.577302	0.75507	0.39157385	0.60144	0.577302	0.75508	-9.493	0.70815	D	.	.	0.423	0.61041	A	.;.;.;.	.;.;.;.	4.447330	0.69097	25.3	0.99347243344324987	0.60412	0.86495	0.45787	D	AEFBI	0.408249	0.48000	N	0.630376840640656	0.75105	6.247449	0.475806938901561	0.66391	4.945904	0.0134415062130334	0.12466	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.29	4.29	0.50359	3.630000	0.54014	3.198000	0.36737	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	15.055	0.71574	889	0.27310	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4193.68	34	chr11	114530269	.	G	C	4193.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.37;DP=1039;ExcessHet=0.3300;FS=3.866;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.89;ReadPosRankSum=0.300;SOR=0.877	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	3	0
chr11	114530556	114530556	C	T	exonic	NXPE1	.	nonsynonymous SNV	NXPE1:NM_152315:exon3:c.G26A:p.G9D	.	.	431	1082	9	0	0	9	0.00414174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.996	D	0.000	D	1.000	D	3.4	M	2.41	T	0.304	D	0.439	T	0.898	2.303	13.66	4.52	2.437	2.591	15.551	0.344	0.0533415575454	0.0011	0.000998403	0.0022	0.0008	0.0013	0.0001	0.0023	0.0021	0.0033	0.0053	0.0020957	324	154602	rs45596232	0.0023	0.0023	0.0021	0.0024	0.0054	0.0022	0.0022	0.0050	0.0048	0.0006	0.0007	0.0002	5.038e-05	0.0022	0.0005	0.0023	0.0024	0.0054	0.0018	0.0018	0.0018	0.0017	0.0054	0.0016	0.0015	0.0038	0.0032	0.0004	0	0.0006	0.0003	0	0.0014	0	0.0029	0.0014	0.0054	0.003	0.72154	D	0.005	0.74150	D	1.0	0.90584	D	0.996	0.84481	D	0.000026	0.55875	D	0.000000	0.761404	0.34043	D	3.815	0.95518	H	2.0	0.55439	T	-5.77	0.91741	D	0.356	0.53884	0.304	0.87621	D	0.439	0.77790	T	10	0.027573705	0.00901	T	0.053342	0.65431	D	0.344	0.66582	.	.	0.426084969639	0.42228	0.4768514143664885	0.47605	0.15899387495	0.17942	0.556798815727	0.46816	T	0.345484	0.71386	T	-0.069784	0.41361	T	0.127937	0.78757	D	0.0736070285006818	0.09148	T	0.79972	0.44511	T	0.6672878	0.76288	0.6341599	0.78647	0.6672878	0.76289	0.6341599	0.78648	-11.522	0.82445	D	.	.	0.711	0.74312	P	.;.;.;.	.;.;.;.	2.815422	0.37074	20.4	0.99793172946789221	0.87839	0.46523	0.27779	N	AEFGBI	0.324886	0.42664	N	0.495428170657947	0.66822	5.000203	0.306265663874907	0.55906	3.753605	0.282194897614041	0.18999	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.52	4.52	0.54797	2.009000	0.40523	2.720000	0.34304	0.599000	0.40250	0.044000	0.21163	0.941000	0.28781	0.006000	0.07323	0.0:1.0:0.0:0.0	15.551	0.75890	889	0.27310	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2145.98	34	chr11	114530556	.	C	T	2145.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.609;DP=1551;ExcessHet=0.0000;FS=5.121;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=0.879;SOR=0.857	GT:AD:DP:GQ:PL	0/0:127,0:127:99:0,120,1800	20	0	1	0
chr11	116785143	116785143	C	T	exonic	ZPR1	.	nonsynonymous SNV	ZPR1:NM_001317086:exon6:c.G547A:p.E183K	.	.	426	1086	10	0	0	10	0.00458295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.306	B	0.118	B	0.000	D	1.000	D	0.975	L	0.83	T	-1.007	T	0.078	T	0.435	3.676	18.68	4.84	2.663	2.668	15.309	0.073	0.00750144582853	0.0050	0.00179712	0.0045	0.0004	0.0028	0	0.0015	0.0073	0.0044	0.0008	0.0045924	710	154602	rs140390701	0.0051	0.0051	0.0052	0.0050	0.0070	0.0050	0.0049	0.0058	0.0057	0.0007	0.0039	0.0060	0	0.0017	0.0070	0.0059	0.0048	0.0011	0.0041	0.0041	0.0044	0.0038	0.0062	0.0038	0.0037	0.0057	0.0056	0.0008	0.0297	0.0056	0.0037	0	0.0009	0.0068	0.0062	0.0109	0.0008	0.069	0.35537	T	0.076	0.42614	T	0.306	0.32693	B	0.118	0.32088	B	0.000026	0.55875	D	0.186644	0.999789	0.49076	D	2.67	0.78151	M	0.83	0.47815	T	-1.85	0.43334	N	0.213	0.23758	-1.0072	0.27789	T	0.078	0.31193	T	10	0.004121095	0.00081	T	0.007501	0.19899	T	0.073	0.21317	.	.	0.717269335974	0.71478	0.3361057134011417	0.33523	0.363663983973	0.37991	0.459769666195	0.33279	T	0.190323	0.54483	T	-0.402813	0.02219	T	-0.347664	0.39473	T	0.0291355721935443	0.01858	T	0.924208	0.72277	D	0.059347272	0.12049	0.11969592	0.28890	0.059347272	0.12049	0.11969592	0.28889	-6.665	0.51546	T	.	.	0.085	0.10352	B	.	.	3.928535	0.57408	23.9	0.99810998553313435	0.89442	0.92365	0.55543	D	AEFDGBCI	0.383463	0.46496	N	0.0317747235359091	0.43304	2.62602	0.180025100460376	0.48753	3.087088	0.999999999448748	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.84	4.84	0.62125	2.757000	0.47236	4.945000	0.46240	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.967000	0.53440	0.0:1.0:0.0:0.0	15.309	0.73720	523	0.74147	Zinc finger, ZPR1-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1558.98	34	chr11	116785143	.	C	T	1558.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.469;DP=830;ExcessHet=0.0000;FS=4.100;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=2.000e-03;SOR=1.034	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr11	116830833	116830833	C	A	exonic	APOC3	.	nonsynonymous SNV	APOC3:NM_000040:exon3:c.C116A:p.A39D,	Apolipoprotein C-III deficiency	.	1	1519	2	0	0	2	0.000657895	.	.	2720959	Cardiovascular_phenotype	MedGen:CN230736	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.997	D	0.002	N	1.000	N	.	.	-3.06	D	0.258	D	0.832	D	0.812	3.454	17.70	3.88	2.181	1.096	9.438	0.589	0.603737434016	.	.	2.529e-05	0	0	0	0	4.614e-05	0	0	1.94e-05	3	154602	rs773670132	2.601e-05	2.599e-05	2.043e-05	3.165e-05	0.0002	1.934e-05	1.693e-05	2.201e-05	1.942e-05	0	0	0	0	0	0.0002	3.058e-05	4.968e-05	0	1.314e-05	1.313e-05	2.57e-05	0	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.471e-05	0	0	0.0	0.91255	D	0.012	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.001532	0.38731	N	0.000000	1	0.08975	N	.	.	.	-3.06	0.92457	D	-6.0	0.89534	D	0.687	0.69300	0.258	0.86869	D	0.832	0.94369	D	9	0.9096153	0.90326	D	0.603737	0.96519	D	0.589	0.83582	.	.	0.937825855988	0.93718	0.8984950820744014	0.89821	0.565440799471	0.52883	0.486506074667	0.36955	T	0.910746	0.98317	D	0.191584	0.73109	D	0.167872	0.81282	D	0.973136305809021	0.69973	D	0.679332	0.29593	T	0.81188166	0.84678	0.7385542	0.84547	0.81188166	0.84679	0.7385542	0.84548	-14.318	0.94044	D	0.9155820584142516	0.96208	0.959	0.91221	P	.;.;.;.	.;.;.;.	4.109477	0.61334	24.3	0.99567787584632395	0.72197	0.40276	0.26401	N	AEFDBCI	0.766416	0.70260	D	0.183464755812852	0.50406	3.230816	0.0534352932160963	0.42239	2.551349	0.999999968701391	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.8	3.88	0.43959	1.155000	0.31311	5.762000	0.49690	0.599000	0.40250	0.530000	0.27189	1.000000	0.68203	0.095000	0.18041	0.0:0.899:0.0:0.101	9.438	0.37819	487	0.76954	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1093.98	37	chr11	116830833	.	C	A	1093.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.931;DP=874;ExcessHet=0.0000;FS=0.723;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.95;ReadPosRankSum=-5.920e-01;SOR=0.790	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485	20	0	1	0
chr11	116832770	116832770	G	A	exonic	APOC3	.	stopgain	APOC3:NM_000040:exon4:c.G186A:p.W62X,	Apolipoprotein C-III deficiency	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.002	N	1.000	D	.	.	.	.	.	.	.	.	.	4.354	22.9	5.04	2.620	4.235	13.742	.	.	.	.	8.241e-06	9.617e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs764210608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.573e-06	6.567e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.002341	0.36727	N	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.885	0.88356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41509	0.90759	D	0.54	0.95419	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.	.;High;.	9.393812	0.98866	41	0.99508909665050094	0.68499	0.91006	0.52677	D	AEFBHCI	0.360176	0.45024	N	0.732347419422902	0.81754	7.596509	0.569287951235151	0.72749	5.85924	0.999999998625164	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.04	5.04	0.67293	4.292000	0.58826	11.679000	0.94198	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.619000	0.31870	0.0:0.0:1.0:0.0	13.742	0.62337	487	0.76954	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3418.08	33	chr11	116832770	.	G	A	3418.08	.	AC=2;AF=0.048;AN=42;DP=803;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.36;SOR=0.956	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1382	20	1	0	0
chr11	117181486	117181486	G	A	exonic	SIDT2	.	nonsynonymous SNV	SIDT2:NM_001040455:exon2:c.G254A:p.R85H,	.	.	423	1090	9	0	0	9	0.00411147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	2.215	M	1.82	T	-0.059	T	0.452	T	0.792	4.845	27.6	4.15	1.352	9.157	13.475	0.460	.	.	0.00199681	0.0015	0	0.0008	0	0	0.0002	0	0.0099	0.0012742	197	154602	rs562507991	0.0008	0.0008	0.0005	0.0011	0.0112	0.0008	0.0007	0.0106	0.0103	2.987e-05	0.0009	7.652e-05	0	0	0.0024	7.734e-05	0.0009	0.0112	0.0004	0.0004	0.0002	0.0006	0.0100	0.0003	0.0003	0.0078	0.0070	0	0	0.0002	0	0	0	0	0.0001	0	0.0100	0.004	0.91255	D	0.009	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.16	0.60381	M	1.82	0.66474	T	-3.62	0.81595	D	0.937	0.94314	-0.0587	0.81021	T	0.452	0.78591	T	10	0.011970669	0.00259	T	.	.	.	0.460	0.75755	.	.	0.803518760456	0.80168	0.6332600558228162	0.63260	1.65414040978	0.89593	0.793074548244	0.80910	T	0.218602	0.58325	T	-0.110387	0.34706	T	0.0780559	0.75448	D	0.0881334380789489	0.10994	T	0.989934	0.97165	D	0.36034808	0.57862	0.18922502	0.42258	0.36034808	0.57863	0.18922502	0.42257	-9.036	0.67929	D	.	.	0.817	0.85281	P	.;.;.;.;.;.	.;.;.;.;.;.	5.539306	0.91949	32	0.99959060676902556	0.99990	0.85638	0.44792	D	ALL	0.910782	0.86916	D	0.760467794746153	0.83585	8.05613	0.709505000299655	0.83099	7.934063	1.0	0.98316	0.839682	0.99964	0	0.768056	0.99558	0	0.736553	0.94036	0	0.825845	0.99933	0	.	.	5.06	4.15	0.47978	9.007000	0.93130	11.912000	0.99606	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0764:0.0:0.9236:0.0	13.475	0.60757	591	0.68823	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1070.98	41	chr11	117181486	.	G	A	1070.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.022;DP=874;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=0.711;SOR=0.766	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	20	0	1	0
chr11	117207131	117207131	G	A	exonic	PCSK7	.	nonsynonymous SNV	PCSK7:NM_004716:exon15:c.C1816T:p.R606W,	.	.	441	1077	4	0	0	4	0.00185357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.003	B	0.002	B	0.892	N	1.000	D	1.79	L	-1.09	T	-0.588	T	0.351	T	0.192	1.821	12.05	3.05	0.607	1.434	6.062	0.182	0.145571357645	.	.	9.591e-05	0.0002	9.208e-05	0	0	6.234e-05	0	0.0003	3.84e-05	1	26028	rs201872222	5.315e-05	5.867e-05	5.045e-05	5.579e-05	0.0004	4.286e-05	3.909e-05	7.747e-05	6.036e-05	0.0001	0.0002	0	0	0	0.0004	4.577e-05	1.909e-05	0.0001	9.52e-05	9.214e-05	5.287e-05	0.0001	0.0002	5.713e-05	4.609e-05	9.865e-05	7.178e-05	0.0002	0	0.0002	0	0	0	0	4.508e-05	0	0	0.108	0.29420	T	0.025	0.56192	D	0.003	0.11197	B	0.002	0.06944	B	0.892466	0.08678	N	0.951899	1	0.81001	D	1.905	0.50856	L	-1.09	0.77206	T	-3.94	0.73378	D	0.215	0.24010	-0.5877	0.65312	T	0.351	0.71470	T	10	0.18249875	0.33532	T	0.145571	0.82775	D	0.182	0.45420	0.538	0.64874	0.496495002422	0.49283	0.6246161565136455	0.62394	1.95682666535	0.93407	0.196738094091	0.00368	T	0.236345	0.60379	T	-0.25919	0.12995	T	-0.340785	0.40255	T	0.0578861319365189	0.06831	T	0.878012	0.59262	D	0.08505345	0.19713	0.09197179	0.21652	0.08505345	0.19713	0.09197179	0.21652	-10.337	0.75904	D	.	.	0.109	0.20819	B	.	.	4.246010	0.64416	24.7	0.97135264335819393	0.32516	0.61627	0.31540	D	AEFDGBCI	0.372526	0.45814	N	-0.496173646414745	0.22205	1.184057	-0.423411722882384	0.24312	1.330637	0.992604062976427	0.32901	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.01	3.05	0.34272	1.262000	0.32594	7.419000	0.58701	-0.166000	0.11466	0.512000	0.27048	1.000000	0.68203	0.870000	0.41412	0.0968:0.0:0.5781:0.3251	6.062	0.19072	650	0.62973	P domain|P domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	795.98	33	chr11	117207131	.	G	A	795.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.17;DP=910;ExcessHet=0.0000;FS=6.193;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=38.51;MQRankSum=-2.164e+00;QD=4.17;ReadPosRankSum=0.333;SOR=1.260	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1471	20	0	1	0
chr11	117282174	117282174	G	A	exonic	RNF214	.	nonsynonymous SNV	RNF214:NM_001077239:exon11:c.G1616A:p.G539D	.	.	416	1102	4	0	0	4	0.00181159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.996	D	0.907	P	0.000	D	0.983	D	1.445	L	1.25	T	-0.940	T	0.162	T	0.781	2.804	15.34	5.39	2.517	1.952	13.01	0.149	0.0132811220029	.	.	8.324e-06	0	8.64e-05	0	0	0	0	0	6.5e-06	1	154602	rs754052074	9.577e-06	9.577e-06	4.084e-06	1.513e-05	0.0003	5.56e-06	4.35e-06	6.094e-05	4.042e-05	0	4.472e-05	0	0	0	0.0003	0	1.656e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.46513	T	0.031	0.53788	D	0.996	0.68779	D	0.907	0.64423	P	0.000100	0.51296	D	0.125811	0.982974	0.39957	D	0.55	0.14455	N	1.25	0.42122	T	-0.18	0.13418	N	0.383	0.46835	-0.9403	0.42568	T	0.162	0.49715	T	10	0.1649633	0.30847	T	0.013281	0.32560	T	0.149	0.39377	0.128	0.03331	0.304565745084	0.30068	0.5702474652138849	0.56952	1.26109270763	0.82029	0.658131182194	0.61142	T	0.021763	0.16890	T	-0.0229747	0.48429	T	-0.170148	0.57429	T	0.294316193544403	0.24769	T	0.884312	0.60710	D	0.09929627	0.23432	0.13231348	0.31754	0.09929627	0.23431	0.13231348	0.31753	-7.653	0.58680	D	.	.	0.374	0.58352	A	.;.;.;.	.;.;.;.	3.588997	0.50639	23.0	0.99768947193057922	0.85750	0.91131	0.52921	D	AEFBI	0.294054	0.40453	N	0.399605129307268	0.61400	4.340689	0.432870173502205	0.63623	4.599969	0.999973357877842	0.50053	0.719381	0.83141	0	0.653731	0.59785	0	0.723133	0.82415	0	0.662433	0.64102	0	.	.	5.39	5.39	0.77615	2.017000	0.40600	8.428000	0.77165	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.977000	0.56843	0.0:0.0:0.8394:0.1606	13.01	0.58131	651	0.62880	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1849.98	45	chr11	117282174	.	G	A	1849.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.430e-01;DP=993;ExcessHet=0.0000;FS=1.354;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.50;ReadPosRankSum=-1.415e+00;SOR=0.550	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1084	20	0	1	0
chr11	117397294	117397294	T	C	exonic	CEP164	.	nonsynonymous SNV	CEP164:NM_001271933:exon26:c.T3491C:p.M1164T	Nephronophthisis 15, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1431692	Inborn_genetic_diseases|Nephronophthisis_15	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845,Orphanet:3156	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.51	T	0.002	B	0.005	B	0.607	N	1.000	N	1.01	L	1.96	T	-0.981	T	0.039	T	0.146	-1.381	0.025	1.43	0.370	0.296	8.119	0.029	0.00781159314202	7.7e-05	.	1.706e-05	0	0	0	0	1.556e-05	0	6.239e-05	1.94e-05	3	154602	rs375136293	1.848e-05	1.847e-05	1.498e-05	2.202e-05	8.122e-05	1.266e-05	1.085e-05	3.768e-05	2.663e-05	2.989e-05	2.237e-05	0	5.039e-05	0	0	1.349e-05	1.659e-05	8.122e-05	2.628e-05	2.627e-05	1.285e-05	4.035e-05	7.239e-05	8.14e-06	5.14e-06	1.919e-05	1.032e-05	7.239e-05	0	0	0	0	0	0	1.47e-05	0	0	0.152	0.24468	T	0.351	0.17425	T	0.002	0.09854	B	0.005	0.11217	B	0.606948	0.05679	N	1.255810	0.999994	0.08975	N	1.5	0.37844	L	1.96	0.22270	T	-1.41	0.34795	N	0.101	0.08366	-0.9810	0.34771	T	0.039	0.16849	T	10	0.03469029	0.01687	T	0.007812	0.20720	T	0.029	0.06676	.	.	0.0846915920261	0.08053	0.06758007092248002	0.06696	0.132759123036	0.14957	0.265297234058	0.05538	T	0.02578	0.19207	T	-0.395517	0.02477	T	-0.624381	0.10844	T	0.0141857516415785	0.00279	T	0.416058	0.10924	T	0.025705168	0.01540	0.06931057	0.14588	0.025705168	0.01539	0.06931057	0.14587	-2.55	0.06132	T	0.13079247627679594	0.13792	0.131	0.28116	B	.	.	0.915934	0.12904	9.416	0.34119353736202901	0.02070	0.06326	0.12323	N	AEFBI	0.025961	0.01868	N	-0.930702873702198	0.10129	0.4825899	-0.924922319761371	0.11507	0.5866166	0.139508996737312	0.17246	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.02	1.43	0.21585	0.297000	0.18856	-0.086000	0.12117	-0.171000	0.11205	0.005000	0.17040	0.000000	0.08366	0.005000	0.06747	0.0:0.2429:0.0:0.7571	8.119	0.30119	796	0.45353	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	4288.08	42	chr11	117397294	.	T	C	4288.08	.	AC=2;AF=0.048;AN=42;DP=925;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.41;SOR=0.926	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	20	1	0	0
chr11	117428539	117428539	G	A	exonic	DSCAML1	.	nonsynonymous SNV	DSCAML1:NM_020693:exon33:c.C5951T:p.A1984V,	.	.	467	1051	4	0	0	4	0.00189934	.	.	1870606	not_specified|not_provided|DSCAML1-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.18	T	0.361	B	0.156	B	.	.	0.976	D	0	N	-0.01	T	-0.954	T	0.124	T	0.346	2.112	13.02	3.85	0.962	7.199	14.321	0.158	0.466210098701	.	.	0.0006	0	0	0	0	0.0006	0	0.0008	0.0001358	21	154602	rs760492346	0.0002	0.0002	0.0001	0.0002	0.0025	0.0001	0.0001	0.0014	0.0010	3.258e-05	0.0002	0	0	4.263e-05	0.0025	0.0001	0.0002	0.0006	0.0001	0.0001	0.0002	8.076e-05	0.0004	9.16e-05	7.713e-05	0.0001	7.908e-05	2.412e-05	0	0.0001	0	0	0	0.0068	0.0002	0.0009	0.0004	0.177	0.22746	T	0.181	0.31026	T	.	.	.	.	.	.	.	.	.	.	0.975909	0.39229	D	.	.	.	-0.01	0.63403	T	-1.05	0.29525	N	0.246	0.32148	-0.9537	0.40327	T	0.124	0.42673	T	9	0.09348783	0.16549	T	0.46621	0.94600	D	0.158	0.41098	.	.	0.619695279946	0.61661	0.27005283642960815	0.26918	0.00832187510535	0.00754	0.86537539959	0.91901	D	.	.	.	-0.0113619	0.50076	T	-0.254097	0.49413	T	0.0852401710544109	0.10644	T	0.814619	0.46840	T	.	.	.	.	.	.	.	.	-5.406	0.40977	T	.	.	0.147	0.32469	B	.;.	.;.	3.530975	0.49542	22.8	0.99579486933977424	0.72921	0.98155	0.80075	D	AEFBI	0.758398	0.69705	D	-0.202927074104933	0.33014	1.868289	-0.0723673569025499	0.36538	2.127603	0.889404668155575	0.25812	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.8	3.85	0.43556	6.360000	0.73005	9.516000	0.80927	0.484000	0.22197	0.981000	0.35396	1.000000	0.68203	0.970000	0.54328	0.0:0.1501:0.8499:0.0	14.321	0.66044	848	0.35897	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	420.18	13	chr11	117428539	.	G	A	420.18	.	AC=2;AF=0.048;AN=42;DP=333;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.9364;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.32;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:20,0:20:59:.:.:0,59,585	20	1	0	0
chr11	117482147	117482147	G	A	exonic	DSCAML1	.	nonsynonymous SNV	DSCAML1:NM_001367904:exon12:c.C2375T:p.T792I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.516	P	0.53	P	.	.	1.000	D	0.975	L	1.03	T	-0.878	T	0.134	T	0.71	2.310	13.68	3.97	2.047	9.648	16.287	0.317	0.0144765869956	.	.	4.195e-05	0	0	0	0	1.52e-05	0	0.0002	3.88e-05	6	154602	rs752706168	1.3e-05	1.3e-05	1.225e-05	1.375e-05	0.0002	8.31e-06	6.7e-06	0.0001	9.45e-05	0	0	0	0	0	0	2.698e-06	0	0.0002	6.569e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.068	0.41364	T	0.149	0.32568	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.03	0.40469	T	-3.05	0.62976	D	0.864	0.86085	-0.8785	0.49880	T	0.134	0.44720	T	9	0.58014935	0.65803	D	0.014477	0.34624	T	0.317	0.63904	.	.	0.634919264937	0.63192	0.6417138322301863	0.64106	1.16613596028	0.79628	0.725578963757	0.70861	T	.	.	.	-0.153766	0.27723	T	-0.162459	0.58129	T	0.434599697589874	0.30230	T	0.890911	0.62511	D	.	.	.	.	.	.	.	.	-8.062	0.61492	D	.	.	0.228	0.46073	B	.;.	.;.	4.870631	0.79790	27.2	0.9888510188596028	0.47895	0.98582	0.84349	D	AEFDBI	0.946108	0.95518	D	0.213293817879798	0.51842	3.362504	0.238401740119774	0.51992	3.377241	0.999999982113657	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.97	3.97	0.45241	9.994000	0.99266	11.703000	0.94531	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.0:1.0:0.0	16.287	0.82555	880	0.29376	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1195.98	121	chr11	117482147	.	G	A	1195.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.000e-03;DP=838;ExcessHet=0.0000;FS=2.566;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.88;ReadPosRankSum=0.951;SOR=0.471	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1412	20	0	1	0
chr11	117918602	117918604	TGG	0	exonic	TMPRSS13	.	.	.	.	.	455	112	9	0	946	955	0.0386266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	2892.83	147	chr11	117918602	.	TGG	T,*	2892.83	.	AC=1,33;AF=0.024,0.786;AN=42;DP=4072;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=1,33;MLEAF=0.024,0.786;MQ=60.00;QD=1.03;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,138:138:99:.:.:6080,6080,6080,425,425,0	1	0	0	0
chr11	117918605	117918618	AGATGCCTGGGCTG	0	exonic	TMPRSS13	.	.	.	.	.	453	114	9	0	946	955	0.0379747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	2883.83	147	chr11	117918605	.	AGATGCCTGGGCTG	A,*	2883.83	.	AC=1,33;AF=0.024,0.786;AN=42;DP=4040;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=1,33;MLEAF=0.024,0.786;MQ=59.94;QD=1.03;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,138:138:99:.:.:6080,6080,6080,425,425,0	1	0	0	0
chr11	118527604	118527604	-	AGA	exonic	TTC36	.	nonframeshift insertion	TTC36:NM_001080441:exon1:c.110_111insAGA:p.E39_D40insE,	.	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.65e-05	0	0	0	0	1.5e-05	0	6.089e-05	1.29e-05	2	154602	rs782749029	4.107e-06	4.104e-06	2.724e-06	5.503e-06	0.0005	1.48e-06	9.7e-07	0.0001	7.546e-05	0	0	0	0	0	0.0005	0	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1264.94	34	chr11	118527604	.	G	GAGA	1264.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=757;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.08;ReadPosRankSum=-1.287e+00;SOR=0.606	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1389	20	0	1	0
chr11	118645556	118645556	G	A	exonic	PHLDB1	.	nonsynonymous SNV	PHLDB1:NM_001144759:exon15:c.G3181A:p.A1061T	.	.	425	1074	23	0	0	23	0.0105942	.	.	3185095	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.904	P	0.27	B	0.000	D	0.842	N	1.765	L	0.14	T	-0.799	T	0.135	T	0.366	2.757	15.18	5.52	2.596	2.954	18.434	0.119	0.0218843976198	0.0012	0.00139776	0.0017	0.0006	0.0014	0	0	0.0022	0.0067	0.0021	0.0017658	273	154602	rs149914355	0.0020	0.0020	0.0019	0.0021	0.0265	0.0020	0.0019	0.0231	0.0218	0.0013	0.0014	0.0042	2.519e-05	0.0003	0.0265	0.0020	0.0024	0.0021	0.0016	0.0016	0.0015	0.0017	0.0023	0.0014	0.0014	0.0020	0.0019	0.0006	0	0.0020	0.0029	0	9.413e-05	0.0238	0.0023	0.0024	0.0021	0.169	0.23631	T	0.108	0.37589	T	0.883	0.48537	P	0.27	0.39872	B	0.000268	0.46590	D	0.223446	0.842181	0.28615	N	1.99	0.53851	M	0.14	0.60854	T	-1.95	0.50337	N	0.584	0.67736	-0.7986	0.55227	T	0.135	0.44875	T	10	0.005960822	0.00134	T	0.021884	0.44718	T	0.119	0.33137	.	.	0.463073977797	0.45932	0.399186374233425	0.39833	0.412149464764	0.41964	0.60329580307	0.53369	T	0.068353	0.33436	T	-0.362783	0.03975	T	-0.298816	0.44848	T	0.0157970065280437	0.00368	T	0.89801	0.68816	D	0.09832869	0.23192	0.13199164	0.31682	0.09832869	0.23192	0.13199164	0.31681	-9.117	0.68446	D	.	.	0.164	0.36234	B	.;.;.;.	.;.;.;.	4.045370	0.59916	24.2	0.99802467459770861	0.88728	0.98675	0.85440	D	AEFBI	0.501452	0.53428	D	0.290172398101105	0.55649	3.728965	0.349266002012558	0.58464	4.016936	0.998958164288081	0.38059	0.719381	0.83141	0	0.59043	0.45803	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	2.643000	0.46271	11.810000	0.96908	0.676000	0.76740	0.987000	0.36337	1.000000	0.68203	0.886000	0.42526	0.0:0.0:1.0:0.0	18.434	0.90584	315	0.87208	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3150.98	34	chr11	118645556	.	G	A	3150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.067e+00;DP=895;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.16;ReadPosRankSum=-5.500e-02;SOR=0.725	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1243	20	0	1	0
chr11	118660626	118660626	T	C	exonic	TREH	.	nonsynonymous SNV	TREH:NM_001301065:exon9:c.A922G:p.I308V	Trehalase deficiency	.	9	1511	2	0	0	2	0.000661376	.	.	3191848	TREH-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.12	T	0.599	P	0.478	P	0.001	D	0.879	D	.	.	0.86	T	-0.808	T	0.091	T	0.135	2.171	13.22	5.24	1.975	5.242	12.654	0.121	.	0.0004	0.00319489	0.0018	0.0002	0.0002	0.0163	0.0007	0.0009	0	0.0003	0.0011255	174	154602	rs140687140	0.0008	0.0008	0.0008	0.0008	0.0212	0.0008	0.0008	0.0200	0.0195	0	0	0.0022	0.0212	0.0010	0.0003	0.0002	0.0006	0.0002	0.0007	0.0007	0.0007	0.0007	0.0141	0.0006	0.0006	0.0115	0.0106	0	0	6.539e-05	0.0023	0.0141	0.0008	0	0.0001	0.0005	0.0012	0.298	0.14595	T	0.379	0.16815	T	0.137	0.27402	B	0.189	0.36295	B	0.000581	0.43095	D	0.228496	0.87863	0.35705	D	.	.	.	0.86	0.46777	T	-0.36	0.13035	N	0.353	0.41063	-0.8083	0.54653	T	0.091	0.34955	T	9	0.008515596	0.00193	T	.	.	.	0.121	0.33580	.	.	0.304108284078	0.30024	0.3558502507967025	0.35499	0.0917149289115	0.10352	0.410879433155	0.26579	T	0.085991	0.37625	T	-0.550204	0.00291	T	-0.552718	0.17066	T	0.0619435517870502	0.07471	T	0.683732	0.31438	T	0.09925581	0.23422	0.19866633	0.43710	0.08549273	0.19832	0.18525669	0.41627	-6.578	0.52298	T	.	.	0.164	0.40441	B	.;.	.;.	2.342947	0.30025	18.31	0.98747247904549396	0.45602	0.87040	0.46462	D	AEFDBCI	0.667505	0.63561	D	0.0835744451384781	0.45698	2.821946	0.162449280642794	0.47805	3.005294	0.9999999991158	0.74766	0.615755	0.39536	0	0.563428	0.19063	0	0.618376	0.41669	0	0.666353	0.64628	0	.	.	5.24	5.24	0.72863	4.216000	0.58337	6.840000	0.56713	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.707000	0.34357	0.0:0.0:0.0:1.0	12.654	0.56140	316	0.87161	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1477.98	33	chr11	118660626	.	T	C	1477.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.717e+00;DP=828;ExcessHet=0.0000;FS=3.012;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.63;ReadPosRankSum=-1.389e+00;SOR=0.486	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1237	20	0	1	0
chr11	118893740	118893740	G	A	exonic	CXCR5	.	nonsynonymous SNV	CXCR5:NM_032966:exon1:c.G61A:p.V21M	.	.	401	1118	3	0	0	3	0.00133988	.	.	2288835	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.18	T	0.041	B	0.004	B	0.127	N	1.000	N	0.66	N	0.99	T	-1.067	T	0.049	T	0.134	-0.353	2.331	0.051	-0.183	-0.331	0.956	0.021	0.00429718638463	.	.	9.065e-05	0	0.0003	0	0	0.0001	0	0	0.0001035	16	154602	rs774152337	8.003e-05	8.003e-05	8.167e-05	7.838e-05	0.0066	6.8e-05	6.354e-05	0.0049	0.0044	5.974e-05	0.0003	0	0	0	0.0066	5.126e-05	9.934e-05	1.159e-05	0.0001	0.0001	0.0001	0.0001	0.0005	8.666e-05	7.258e-05	0.0003	0.0002	9.652e-05	0	0.0005	0	0	0	0	0.0001	0	0	0.405	0.10311	T	0.298	0.20486	T	0.041	0.21357	B	0.004	0.10090	B	0.127067	0.18781	N	0.559944	1	0.08975	N	-0.145	0.04423	N	0.99	0.41750	T	0.04	0.06488	N	0.093	0.07262	-1.0669	0.10108	T	0.049	0.21065	T	10	0.028982818	0.01026	T	0.004297	0.10435	T	0.021	0.04004	.	.	0.303453137403	0.29957	0.22514568583924252	0.22429	0.768549242623	0.64651	0.286113291979	0.08359	T	0.146732	0.48448	T	-0.502095	0.00556	T	-0.661442	0.08169	T	0.0127063620084815	0.00214	T	0.691131	0.30052	T	0.024997508	0.01388	0.039807033	0.04157	0.024997508	0.01388	0.039807033	0.04157	-5.385	0.40775	T	.	.	0.11	0.21201	B	.	.	0.067199	0.04764	1.385	0.8822380455991653	0.17810	0.04350	0.09917	N	AEFDBCI	0.058218	0.10907	N	-0.818486459827153	0.12838	0.6284151	-0.775145828715336	0.15106	0.7927921	0.999946085123459	0.47345	0.653281	0.48532	0	0.659037	0.61890	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.86	0.051	0.13610	-0.393000	0.07366	-0.169000	0.11245	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.619000	0.31870	0.4108:0.1576:0.2785:0.153	0.956	0.01299	433	0.80627	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1716.98	33	chr11	118893740	.	G	A	1716.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.982;DP=851;ExcessHet=0.0000;FS=2.067;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=0.118;SOR=0.920	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1195	20	0	1	0
chr11	118902505	118902505	G	A	exonic	BCL9L	.	nonsynonymous SNV	BCL9L:NM_182557:exon6:c.C1238T:p.T413M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.993	D	0.001	D	1.000	D	0.805	L	-1.02	T	0.077	D	0.483	T	0.684	3.298	17.08	4.25	2.214	7.356	16.841	0.564	0.313144192296	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1403588343	6.18e-06	6.84e-06	1.367e-06	1.104e-05	6.713e-05	2.91e-06	2.11e-06	1.78e-05	8.93e-06	0	6.713e-05	0	0	0	0	4.497e-06	0	1.16e-05	6.569e-06	6.566e-06	0	1.345e-05	6.539e-05	0	0	.	.	0	0	6.539e-05	0	0	0	0	0	0	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.993	0.81110	D	0.000576	0.43250	D	0.000000	0.999998	0.58761	D	0.805	0.20218	L	-1.02	0.76300	T	-4.35	0.76900	D	0.66	0.66959	0.077	0.83746	D	0.483	0.80291	T	10	0.54894257	0.64144	D	0.313144	0.91247	D	0.564	0.82175	0.313	0.28774	0.689243855345	0.68657	0.5868796524234968	0.58617	0.794315739272	0.65970	0.890811741352	0.95361	D	0.742598	0.92883	D	0.0532959	0.58766	T	0.0146262	0.71281	D	0.988121509552002	0.78501	D	0.930407	0.74741	D	0.51188695	0.67789	0.42060244	0.66018	0.51188695	0.67790	0.42060244	0.66019	-13.129	0.89886	D	.	.	0.950	0.92161	P	.;.	.;.	4.886953	0.80198	27.3	0.99862625107609593	0.94093	0.94417	0.61099	D	AEFBCI	0.780507	0.71238	D	0.524496871311265	0.68544	5.231667	0.518837285937694	0.69260	5.334886	0.999999993800881	0.74766	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.25	4.25	0.49658	7.465000	0.79922	11.736000	0.95093	0.608000	0.46601	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:1.0:0.0	16.841	0.85833	343	0.85802	B-cell lymphoma 9, beta-catenin binding domain;B-cell lymphoma 9, beta-catenin binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1437.08	40	chr11	118902505	.	G	A	1437.08	.	AC=2;AF=0.048;AN=42;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=34.22;SOR=1.127	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1358	20	1	0	0
chr11	118956957	118956957	T	-	exonic	UPK2	.	frameshift deletion	UPK2:NM_006760:exon2:c.151delT:p.C51Vfs*10,	.	.	416	1101	4	1	0	6	0.00271739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	.	0.0008	0.0002	0.0008	0	0.0002	0.0008	0.0011	0.0016	0.0001153	3	26028	rs750295837	0.0013	0.0013	0.0013	0.0013	0.0015	0.0012	0.0012	0.0014	0.0014	0.0003	0.0003	0	0	0	0.0007	0.0014	0.0013	0.0015	0.0005	0.0005	0.0005	0.0005	0.0009	0.0004	0.0004	0.0007	0.0006	0.0002	0	0.0003	0	0	9.409e-05	0.0034	0.0009	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1642.94	33	chr11	118956956	.	CT	C	1642.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.640e-01;DP=791;ExcessHet=0.0000;FS=0.729;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.50;ReadPosRankSum=0.982;SOR=0.571	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1097	20	0	1	0
chr11	118979538	118979538	C	T	exonic	FOXR1	.	nonsynonymous SNV	FOXR1:NM_181721:exon4:c.C481T:p.R161W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.999	D	0.732	P	0.802	N	0.969	N	1.435	L	-3.69	D	0.449	D	0.863	D	0.223	3.397	17.47	5.61	2.826	2.724	15.512	0.298	0.05275276355	.	.	1.655e-05	0	0	0	0	3.009e-05	0	0	1.29e-05	2	154602	rs782323250	5.474e-06	5.472e-06	4.085e-06	6.878e-06	1.161e-05	2.36e-06	1.7e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.296e-06	0	1.161e-05	1.314e-05	1.313e-05	0	2.689e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.255	0.16848	T	0.103	0.38305	T	0.999	0.77913	D	0.732	0.55359	P	0.802382	0.09314	N	0.915017	0.968843	0.25782	N	1.28	0.32218	L	-3.69	0.95317	D	-1.07	0.27876	N	0.296	0.33469	0.449	0.89819	D	0.863	0.95428	D	10	0.29891497	0.47446	T	0.052753	0.65197	D	0.298	0.61843	0.398	0.42590	0.980950227017	0.98074	0.3291238264703134	0.32825	0.674197627447	0.59628	0.301548540592	0.10632	T	0.081038	0.36503	T	-0.0285629	0.47626	T	-0.171148	0.57338	T	0.825289666652679	0.48168	D	.	.	.	0.15567625	0.35173	0.18678345	0.41871	0.15567625	0.35172	0.18678345	0.41870	-5.552	0.42351	T	.	.	0.086	0.10594	B	.	.	3.690600	0.52580	23.3	0.9983421011464596	0.91542	0.89570	0.50119	D	AEFDBHCI	0.381755	0.46389	N	0.551893450310405	0.70198	5.466357	0.585669433512503	0.73911	6.048654	0.99999998879028	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.658952	0.52864	0	0.562822	0.20929	0	.	.	5.61	5.61	0.85347	2.254000	0.42868	2.735000	0.34419	0.599000	0.40250	0.931000	0.32310	0.831000	0.27213	0.998000	0.85391	0.0:1.0:0.0:0.0	15.512	0.75526	195	0.92448	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2808.08	33	chr11	118979538	.	C	T	2808.08	.	AC=2;AF=0.048;AN=42;DP=814;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.91;SOR=0.786	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1265	20	1	0	0
chr11	119027660	119027660	T	A	exonic	SLC37A4	.	nonsynonymous SNV	SLC37A4:NM_001164280:exon4:c.A593T:p.N198I	Glycogen storage disease Ib, Autosomal recessive;Glycogen storage disease Ic, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	142891	not_specified|Glucose-6-phosphate_transport_defect|not_provided	MedGen:CN169374|MONDO:MONDO:0009288,MedGen:C0268146,OMIM:232220,Orphanet:364,Orphanet:79259|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0552142501722	0.0045	0.00239617	0.0036	0.0015	0.0042	0	0.0014	0.0054	0.0056	0.0002	0.0036934	571	154602	rs34203644	0.0050	0.0050	0.0051	0.0049	0.0059	0.0049	0.0049	0.0058	0.0058	0.0009	0.0052	0.0033	0	0.0012	0.0007	0.0059	0.0049	0.0003	0.0039	0.0039	0.0040	0.0037	0.0080	0.0036	0.0035	0.0068	0.0064	0.0011	0	0.0080	0.0037	0.0002	0.0008	0	0.0057	0.0047	0.0002	.	.	.	0.012	0.64786	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	0.80767	.	.	.	.	.	.	.	0.015274823	0.00321	T	0.055214	0.66150	D	.	.	.	.	0.579463755994	0.57616	0.7255319220428349	0.72497	0.0879410634102	0.09929	0.548644661903	0.45666	T	0.39812	0.75713	T	-0.0442598	0.45316	T	0.167373	0.81253	D	.	.	.	0.90351	0.66162	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.35951	B	.;.;.;.	.;.;.;.	3.467044	0.48348	22.6	0.85434280017370734	0.15890	0.94848	0.62539	D	AEFDBCI	0.789781	0.71887	D	.	.	.	.	.	.	0.99999999469522	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.320204	0.05785	0	0.375513	0.06772	0	.	.	5.17	5.17	0.70848	3.772000	0.55034	6.210000	0.55001	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.910000	0.44547	0.0:0.0:0.0:1.0	15.173	0.72571	248	0.90287	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1015.98	36	chr11	119027660	.	T	A	1015.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.296;DP=881;ExcessHet=0.0000;FS=0.783;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=0.243;SOR=0.553	GT:AD:DP:GQ:PL	0/1:52,43:95:99:1030,0,1311	20	0	1	0
chr11	119056073	119056073	T	C	exonic	HYOU1	.	nonsynonymous SNV	HYOU1:NM_001130991:exon2:c.A88G:p.S30G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.139	B	0.076	B	0.000	D	1.000	D	0	N	4.86	T	-0.729	T	0.006	T	0.484	3.562	18.16	5.08	2.132	3.432	11.168	0.151	0.0170910379402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.16	0.57587	T	0.139	0.27501	B	0.076	0.28435	B	0.000108	0.50451	D	0.202273	1	0.81001	D	0	0.06538	N	4.57	0.19311	T	-1.78	0.42001	N	0.422	0.58798	-0.7292	0.59004	T	0.006	0.01870	T	10	0.3894447	0.54783	T	0.017091	0.38644	T	0.151	0.39764	0.367	0.37524	0.59934794714	0.59615	0.44576466739798204	0.44494	.	.	0.542173147202	0.44753	T	0.224752	0.58928	T	-0.13205	0.31165	T	-0.427457	0.30225	T	0.856012284755707	0.50692	D	.	.	.	0.14077787	0.32465	0.15557502	0.36461	0.14077787	0.32465	0.15557502	0.36460	-3.836	0.21343	T	.	.	0.072	0.06387	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	3.294260	0.45196	22.1	0.99214123406740162	0.55685	0.73149	0.35785	D	ALL	0.642863	0.61969	D	-0.137048746987506	0.35789	2.060087	0.0600022390067346	0.42558	2.576179	0.999999999998158	0.74766	0.542737	0.22433	0	0.504199	0.08210	0	0.685571	0.62057	0	0.273489	0.05413	2	.	.	5.08	5.08	0.68373	3.373000	0.52124	7.617000	0.62147	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.136000	0.19798	0.0:0.0:0.0:1.0	11.168	0.47782	225	0.91282	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1192.98	41	chr11	119056073	.	T	C	1192.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.522e+00;DP=876;ExcessHet=0.0000;FS=3.404;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.11;ReadPosRankSum=0.717;SOR=1.056	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1620	20	0	1	0
chr11	119108075	119108075	G	A	exonic	C2CD2L	.	nonsynonymous SNV	C2CD2L:NM_001290474:exon1:c.G334A:p.E112K	.	.	404	1086	32	0	0	32	0.0145191	.	.	2809936	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.13	T	0.487	P	0.113	B	0.013	N	1.000	D	1.385	L	1.7	T	-1.097	T	0.030	T	0.471	3.528	18.01	2.87	1.227	4.058	6.801	0.053	0.0136424806014	0.0006	0.00119808	0.0021	0.0001	0.0004	0	0.0019	0.0019	0.0061	0.0059	0.0017076	264	154602	rs140064567	0.0014	0.0014	0.0012	0.0017	0.0095	0.0014	0.0013	0.0074	0.0067	0.0002	0.0004	0	2.716e-05	0.0038	0.0095	0.0011	0.0016	0.0055	0.0015	0.0015	0.0015	0.0016	0.0060	0.0014	0.0013	0.0043	0.0037	0.0001	0	0.0011	0	0	0.0035	0.0034	0.0021	0.0019	0.0060	0.061	0.37118	T	0.08	0.41913	T	0.487	0.36886	P	0.113	0.31689	B	0.013348	0.28869	N	0.411746	1	0.81001	D	2.02	0.55341	M	1.7	0.26885	T	-1.87	0.43717	N	0.515	0.54584	-1.0975	0.04407	T	0.030	0.12979	T	10	0.009098738	0.00206	T	0.013642	0.33196	T	0.053	0.14996	.	.	0.0675242888579	0.06100	0.4890111827134518	0.48821	1.16216209601	0.79521	0.711971521378	0.68879	T	0.074185	0.34876	T	-0.410295	0.01978	T	-0.360908	0.37948	T	0.0664798463447457	0.08148	T	0.907609	0.68535	D	0.28006068	0.51054	0.21071127	0.45469	0.28006068	0.51054	0.21071127	0.45468	-5.959	0.45986	T	.	.	0.167	0.37783	B	.;.	.;.	4.113785	0.61430	24.3	0.99808980960528393	0.89264	0.84728	0.43816	D	AEFDGBHCI	0.554215	0.56515	D	0.0242269093660575	0.42957	2.598314	0.109384698122737	0.45026	2.773317	0.999997571027133	0.74766	0.65757	0.49021	0	0.298843	0.05288	2	0.503968	0.08637	0	0.604282	0.37693	0	.	.	4.87	2.87	0.32523	3.552000	0.53452	4.818000	0.45095	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1018:0.4189:0.4793:0.0	6.801	0.22938	228	0.91137	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	960.98	37	chr11	119108075	.	G	A	960.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.310e-01;DP=811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=0.496;SOR=0.646	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1063	20	0	1	0
chr11	119150009	119150009	C	T	exonic	ABCG4	.	nonsynonymous SNV	ABCG4:NM_001142505:exon2:c.C44T:p.P15L	.	.	416	1082	22	2	0	26	0.0118721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.897	P	0.11	B	0.000	D	1.000	D	1.355	L	3.24	T	-1.036	T	0.013	T	0.391	3.228	16.82	4.9	2.269	0.364	13.644	0.125	.	0.0075	0.00359425	0.0098	0.0010	0.0039	0	0.0429	0.0113	0.0116	0.0057	0.0089197	1379	154602	rs113286118	0.0087	0.0088	0.0087	0.0088	0.0089	0.0086	0.0086	0.0087	0.0087	0.0009	0.0042	0.0029	2.519e-05	0.0322	0.0077	0.0089	0.0076	0.0051	0.0080	0.0081	0.0069	0.0092	0.0090	0.0077	0.0075	0.0084	0.0082	0.0014	0.0022	0.0041	0.0037	0.0004	0.0409	0.0034	0.0090	0.0081	0.0042	0.002	0.72154	D	0.007	0.70582	D	0.897	0.49385	P	0.11	0.31460	B	0.000002	0.62929	D	0.060836	0.999968	0.52935	D	1.935	0.51832	L	3.24	0.06845	T	-1.17	0.29933	N	0.247	0.28028	-1.0362	0.18481	T	0.013	0.04938	T	10	0.004887998	0.00104	T	.	.	.	0.125	0.34456	.	.	0.682096102456	0.67939	0.39496038803249733	0.39411	.	.	0.59180533886	0.51749	T	0.15108	0.49086	T	-0.492883	0.00627	T	-0.471374	0.25369	T	0.0296305477632103	0.01933	T	0.819218	0.47714	T	0.18684475	0.40111	0.18629368	0.41794	0.18684475	0.40111	0.18629368	0.41793	-5.226	0.39205	T	.	.	0.125	0.26419	B	.;.;.;.	.;.;.;.	3.511807	0.49179	22.7	0.99813081388684832	0.89708	0.54838	0.29714	D	AEFDBCI	0.276283	0.39106	N	0.00217070683941212	0.41955	2.518879	0.0239417855891425	0.40829	2.442973	0.999899937018009	0.45129	0.582742	0.33608	0	0.563428	0.19063	0	0.503968	0.08637	0	0.620976	0.48614	0	.	.	4.9	4.9	0.63643	0.345000	0.19720	5.866000	0.50483	0.596000	0.33519	0.048000	0.21332	1.000000	0.68203	0.980000	0.58198	0.0:0.8456:0.1544:0.0	13.644	0.61743	228	0.91137	.;.;.;.	.	.	.	.	rs113286118	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	794.98	34	chr11	119150009	.	C	T	794.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.248;DP=755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=0.775;SOR=0.616	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1171	20	0	1	0
chr11	119172945	119172945	C	A	exonic	NLRX1	.	nonsynonymous SNV	NLRX1:NM_001282143:exon4:c.C185A:p.P62Q	.	.	421	1097	4	0	0	4	0.00181984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.081	B	0.013	B	0.298	N	1.000	N	0.895	L	1.47	T	-0.994	T	0.179	T	0.289	0.410	6.225	2.52	0.082	-0.089	8.295	0.042	0.0172210878034	.	0.000599042	0.0003	9.632e-05	0.0003	0	0	0	0.0011	0.0019	0.0002717	42	154602	rs373665054	0.0001	0.0001	6.806e-05	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	2.987e-05	0.0001	0	0	0	0.0002	8.993e-06	0.0001	0.0018	6.572e-05	6.563e-05	5.143e-05	8.066e-05	0.0015	3.517e-05	2.617e-05	0.0007	0.0005	0	0	6.544e-05	0	0.0002	0	0	1.471e-05	0	0.0015	0.08	0.33753	T	0.0	0.92824	D	0.02	0.24602	B	0.004	0.16460	B	0.298264	0.14645	N	0.632802	1	0.08975	N	1.5	0.37844	L	1.46	0.70597	T	-2.04	0.46842	N	0.276	0.31253	-0.9941	0.31538	T	0.179	0.52551	T	10	0.0060955286	0.00137	T	0.017221	0.38829	T	0.042	0.11227	0.285	0.24280	0.321108458156	0.31720	0.19899797546513942	0.19816	0.237924470368	0.26341	0.244539126754	0.03215	T	0.022864	0.27428	T	-0.441596	0.01266	T	-0.413575	0.31813	T	0.0151571533540998	0.00330	T	0.423058	0.11563	T	0.025691539	0.01535	0.033476215	0.02250	0.025691539	0.01535	0.033476215	0.02250	-4.452	0.30401	T	.	.	0.067	0.05623	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-0.038511	0.04024	0.923	0.77973548459479125	0.12101	0.07289	0.13311	N	AEFGBCI	0.068503	0.13515	N	-1.30788202936433	0.03584	0.1603695	-1.28642187970445	0.04613	0.2180095	0.999976614162584	0.50053	0.651	0.46895	0	0.708844	0.79440	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.4	2.52	0.29514	-0.083000	0.11250	-0.511000	0.08745	-0.942000	0.02081	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7101:0.1328:0.1571	8.295	0.31142	252	0.90114	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1280.98	49	chr11	119172945	.	C	A	1280.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=958;ExcessHet=0.0000;FS=1.515;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=-1.049e+00;SOR=0.515	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	20	0	1	0
chr11	119278646	119278648	ATG	-	exonic	CBL	.	nonframeshift deletion	CBL:NM_005188:exon9:c.1364_1366del:p.D460del,	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	567080	RASopathy|CBL-related_disorder	MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563,Orphanet:363972	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0012	0.0005	0.0009	0.0003	0.0007	0.0011	0.0002	0.0005498	85	154602	rs756238702	5.577e-05	0.0032	7.539e-05	3.597e-05	6.432e-05	4.573e-05	4.182e-05	5.199e-05	4.773e-05	3.008e-05	2.241e-05	3.846e-05	0	1.879e-05	0	6.432e-05	4.997e-05	3.487e-05	0	6.567e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	224.94	35	chr11	119278645	.	TATG	T	224.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.439;DP=833;ExcessHet=0.0000;FS=1.130;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.96;ReadPosRankSum=1.13;SOR=0.742	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1048	20	0	1	0
chr11	119335693	119335693	A	G	exonic	RNF26	.	nonsynonymous SNV	RNF26:NM_032015:exon1:c.A571G:p.I191V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.0	B	0.001	B	0.010	N	0.629	D	0.84	L	-1.1	T	-0.893	T	0.190	T	0.137	0.921	8.751	2.61	1.939	1.040	0.490	0.143	0.00914565651415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.568	0.06223	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.010190	0.30029	N	0.255679	0.629074	0.32773	D	1.735	0.44892	L	-1.1	0.77336	T	-0.27	0.11366	N	0.057	0.02861	-0.8927	0.48696	T	0.190	0.54138	T	10	0.057011902	0.06483	T	0.009146	0.24059	T	0.143	0.38195	0.298	0.26362	0.375384844437	0.37152	0.28510811625386107	0.28423	0.313180073728	0.33613	0.496312081814	0.38314	T	0.04591	0.27267	T	-0.122134	0.32777	T	-0.413213	0.31855	T	0.0825298940835757	0.10308	T	0.644935	0.25655	T	0.021195082	0.00709	0.032137856	0.01904	0.021195082	0.00709	0.032137856	0.01903	-1.711	0.02258	T	.	.	0.084	0.09627	B	.	.	1.299546	0.17012	12.90	0.94539780467601386	0.25045	0.57719	0.30451	D	AEFDBHCI	0.122839	0.23817	N	-0.34379406411768	0.27502	1.509342	-0.16709358692687	0.32754	1.866728	0.999999473366603	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.685571	0.62057	0	0.735409	0.98432	0	.	.	5.12	2.61	0.30255	1.095000	0.30575	3.980000	0.40897	0.751000	0.87719	0.994000	0.38300	1.000000	0.68203	0.996000	0.76049	0.4341:0.216:0.1432:0.2066	0.490	0.00525	739	0.53257	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2708.98	39	chr11	119335693	.	A	G	2708.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.089e+00;DP=1008;ExcessHet=0.0000;FS=3.898;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=-6.420e-01;SOR=0.484	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1307	20	0	1	0
chr11	119342609	119342609	C	A	exonic	MFRP	.	nonsynonymous SNV	MFRP:NM_031433:exon11:c.G1374T:p.L458F,	Microphthalmia, isolated 5, Autosomal recessive;Nanophthalmos 2	.	0	1471	50	1	0	52	0.0173681	.	.	254020	Isolated_microphthalmia_5|Retinal_degeneration|not_provided|not_specified	MONDO:MONDO:0012605,MedGen:C1970236,OMIM:611040,Orphanet:251279|Human_Phenotype_Ontology:HP:0000546,Human_Phenotype_Ontology:HP:0007632,Human_Phenotype_Ontology:HP:0007863,MONDO:MONDO:0004580,MeSH:D012162,MedGen:C0035304|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.744	P	0.154	B	0.010	N	1.000	N	2.215	M	-0.32	T	-0.858	T	0.136	T	0.094	1.929	12.41	1.96	0.550	0.645	16.728	0.109	.	0.0092	0.00698882	0.0085	0.0062	0.0078	0.0001	0.0025	0.0106	0.0129	0.0088	0.0082017	1268	154602	rs145881139	0.0081	0.0081	0.0079	0.0083	0.0314	0.0080	0.0079	0.0277	0.0262	0.0064	0.0081	0.0276	2.519e-05	0.0022	0.0314	0.0080	0.0109	0.0077	0.0089	0.0089	0.0095	0.0083	0.0117	0.0085	0.0084	0.0103	0.0098	0.0065	0.0011	0.0117	0.0309	0	0.0015	0.0680	0.0102	0.0180	0.0070	.	.	.	0.182	0.29249	T	0.744	0.43069	P	0.154	0.34351	B	0.010358	0.29961	N	0.247230	1	0.19486	N	2.62	0.76659	M	.	.	.	.	.	.	0.298	0.33687	-0.8583	0.51384	T	0.136	0.45126	T	9	0.005038619	0.00109	T	.	.	.	.	.	0.434	0.48500	0.627711000292	0.62467	0.18469345112672264	0.18387	.	.	.	.	.	0.063749	0.32256	T	-0.566532	0.00232	T	-0.576172	0.14889	T	0.0294748810528996	0.01909	T	0.642936	0.25461	T	0.18541276	0.39903	0.2185967	0.46569	0.17078535	0.37673	0.2185967	0.46568	-5.476	0.41643	T	0.5842365118693101	0.65103	0.151	0.33504	B	.	.	2.066711	0.26282	17.06	0.99012794696118744	0.50399	0.10667	0.16108	N	AEFDBI	0.234390	0.35716	N	-0.343735241443384	0.27504	1.509477	-0.433842890552151	0.24010	1.312488	0.947910229618793	0.27775	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	5.3	1.96	0.25203	-0.031000	0.12237	2.224000	0.31475	0.599000	0.40250	0.000000	0.06391	0.016000	0.20520	0.965000	0.52897	0.0:0.5711:0.4289:0.0	16.728	0.85288	744	0.52588	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1188.98	33	chr11	119342609	.	C	A	1188.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.66;DP=789;ExcessHet=0.0000;FS=5.624;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=-1.654e+00;SOR=1.306	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr11	119677642	119677642	T	C	exonic	NECTIN1	.	nonsynonymous SNV	NECTIN1:NM_002855:exon3:c.A646G:p.S216G	Cleft lip/palate-ectodermal dysplasia syndrome, Autosomal recessive;Orofacial cleft 7, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	B	0.032	B	0.000	N	0.911	D	2.38	M	-1.18	T	-0.592	T	0.342	T	0.247	2.826	15.41	2.8	0.285	3.222	7.166	0.372	0.100063076428	.	.	0.0002	0	0	0	0	0	0	0.0017	0.0001811	28	154602	rs763644643	8.825e-05	8.824e-05	3.403e-05	0.0001	0.0014	7.555e-05	7.102e-05	0.0012	0.0012	0	0	0	0	0	0	0	6.625e-05	0.0014	2.629e-05	2.627e-05	1.285e-05	4.037e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.019	0.78490	D	0.015	0.70582	D	0.218	0.30213	B	0.032	0.22131	B	0.000000	0.84330	N	0.113982	0.910988	0.36410	D	.	.	.	-1.18	0.78314	T	-3.14	0.64710	D	0.295	0.37197	-0.5922	0.65132	T	0.342	0.70762	T	9	0.06547719	0.08838	T	0.100063	0.77211	D	0.372	0.69102	0.605	0.73706	0.554306714541	0.55088	0.8066815434233905	0.80623	0.38536958446	0.39828	0.458637654781	0.33123	T	0.541543	0.84312	D	-0.308124	0.07914	T	-0.228605	0.51907	T	0.163647202536292	0.18137	T	0.789521	0.46699	T	0.83817255	0.86478	0.7169675	0.83293	0.83817255	0.86480	0.7169675	0.83294	-11.294	0.83667	D	.	.	0.113	0.23395	B	.;.;.	.;.;.	3.247701	0.44358	21.9	0.99480264274776098	0.66850	0.90755	0.52200	D	AEFGBI	0.420292	0.48717	N	-0.139946612479324	0.35665	2.051375	-0.050382526797954	0.37474	2.194597	0.999997091338622	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.21	2.8	0.31881	3.203000	0.50777	2.845000	0.35104	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0775:0.1471:0.7755	7.166	0.24870	877	0.30165	.;CD80-like, immunoglobulin C2-set|Immunoglobulin subtype;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2331.98	36	chr11	119677642	.	T	C	2331.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.880e+00;DP=912;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.31;ReadPosRankSum=0.077;SOR=0.708	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr11	119678715	119678715	C	T	exonic	NECTIN1	.	nonsynonymous SNV	NECTIN1:NM_002855:exon2:c.G130A:p.G44S	Cleft lip/palate-ectodermal dysplasia syndrome, Autosomal recessive;Orofacial cleft 7, Autosomal recessive	.	0	1514	8	0	0	8	0.00263505	.	.	712647	Cleft_lip/palate-ectodermal_dysplasia_syndrome|NECTIN1-related_disorder|not_provided	MONDO:MONDO:0009151,MedGen:C2931488,OMIM:225060,Orphanet:3253|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	1.0	D	0.995	D	0.000	D	1.000	D	3.335	M	-1.45	T	0.561	D	0.689	D	0.846	5.516	35	5.68	2.686	7.484	18.781	0.806	0.209447419473	0.0007	0.00219649	0.0021	0.0005	0.0011	0.0001	0	0.0012	0.0025	0.0087	0.0016753	259	154602	rs137991779	0.0012	0.0012	0.0009	0.0015	0.0078	0.0011	0.0011	0.0073	0.0071	0.0002	0.0009	0.0123	7.559e-05	0	0.0031	0.0005	0.0018	0.0078	0.0010	0.0010	0.0009	0.0012	0.0077	0.0009	0.0008	0.0057	0.0050	0.0001	0	0.0008	0.0141	0.0002	0	0	0.0007	0	0.0077	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-1.45	0.80899	T	-4.69	0.81431	D	0.866	0.87481	0.561	0.91386	D	0.689	0.89250	D	9	0.023116529	0.00596	T	0.209447	0.87200	D	0.806	0.93699	.	.	0.832257761187	0.83066	0.9110220412842944	0.91076	1.25681484625	0.81929	0.715103507042	0.69333	T	0.598472	0.87096	D	0.0336364	0.56208	T	0.280386	0.87142	D	0.117694740931287	0.14202	T	0.941306	0.78096	D	0.7720753	0.82173	0.66245943	0.80217	0.7788311	0.82584	0.65708184	0.79920	-9.876	0.73492	D	.	.	0.399	0.60592	A	.;.;.	.;.;.	5.265870	0.88415	29.6	0.99893014663966739	0.96666	0.98949	0.89045	D	AEFBI	0.937156	0.93454	D	0.91456571891542	0.92455	11.43289	0.863603834756471	0.93785	12.27857	0.999999999999993	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	7.565000	0.81337	7.651000	0.63703	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	18.781	0.91898	877	0.30165	.;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.04762	2470.08	42	chr11	119678715	.	C	T	2470.08	.	AC=2;AF=0.048;AN=42;DP=801;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.08;SOR=1.833	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	1	0	0
chr11	120127545	120127545	T	C	exonic	TRIM29	.	nonsynonymous SNV	TRIM29:NM_001330382:exon3:c.A142G:p.I48V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.001	B	0.026	N	0.999	N	0.345	N	1.27	T	-1.022	T	0.043	T	0.048	0.720	7.830	1.54	0.017	0.106	8.339	0.049	0.00344794849918	.	.	8.311e-06	0	0	0	0	0	0	6.224e-05	6.5e-06	1	154602	rs765652057	1.095e-05	1.094e-05	1.089e-05	1.1e-05	0.0002	6.48e-06	5.24e-06	4.579e-05	3.273e-05	0	0	0	0	0	0.0002	4.497e-06	3.312e-05	9.276e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.08335	T	0.415	0.14326	T	0.0	0.02946	B	0.001	0.04355	B	0.025744	0.26035	N	0.367469	0.999455	0.22200	N	0.55	0.14455	N	1.27	0.36146	T	0.59	0.02558	N	0.235	0.26475	-1.0223	0.22965	T	0.043	0.18618	T	9	0.051317543	0.04996	T	0.003448	0.07786	T	0.049	0.13647	0.257	0.19845	0.117506650769	0.11410	0.3072886394777054	0.30641	0.171613433026	0.19324	0.296688199043	0.09908	T	0.006127	0.07859	T	-0.535702	0.00355	T	-0.72784	0.04426	T	0.022796584526735	0.00999	T	0.709329	0.31993	T	0.022978611	0.01000	0.038119484	0.03613	0.022978611	0.01000	0.038119484	0.03612	-3.202	0.12505	T	.	.	0.064	0.05188	B	.;.	.;.	0.655980	0.10244	6.981	0.87006466239437508	0.16923	0.35446	0.25304	N	AEFBHCI	0.108287	0.21547	N	-0.655729185806959	0.17293	0.888647	-0.533003469718558	0.21260	1.149214	0.999703849778351	0.41986	0.516011	0.20929	0	0.563428	0.19063	0	0.577349	0.28860	0	0.564101	0.26826	0	.	.	5.14	1.54	0.22290	0.172000	0.16518	0.048000	0.13961	0.665000	0.62972	0.516000	0.27080	0.007000	0.19602	1.000000	0.97212	0.0:0.2945:0.0:0.7055	8.339	0.31396	871	0.31377	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1845.98	33	chr11	120127545	.	T	C	1845.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.122e+00;DP=863;ExcessHet=0.0000;FS=5.212;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=-3.700e-02;SOR=1.128	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr11	120330187	120330187	A	G	exonic	TLCD5	.	nonsynonymous SNV	TLCD5:NM_001198675:exon2:c.A107G:p.N36S	.	.	0	225	1	0	0	1	0.00221729	.	.	3346140	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.5	T	0.996	D	0.921	D	0.000	D	1.000	D	1.36	L	-1.87	D	0.001	D	0.609	D	0.235	3.960	20.3	4.91	1.069	9.220	13.445	0.601	0.0349769064747	.	0.000399361	0.0008	0.0002	0	0	0	0.0003	0.0024	0.0028	0.0002846	44	154602	rs527644222	0.0002	0.0002	0.0002	0.0003	0.0025	0.0002	0.0002	0.0023	0.0021	3.04e-05	7.821e-05	0.0018	0	0	0.0014	4.757e-05	0.0002	0.0025	0.0002	0.0002	0.0001	0.0003	0.0029	0.0001	0.0001	0.0018	0.0014	0	0	6.548e-05	0.0023	0	0	0	4.411e-05	0.0005	0.0029	0.095	0.34444	T	0.0	0.92824	D	0.996	0.68779	D	0.921	0.65636	D	0.000000	0.84330	D	0.039896	1	0.81001	D	1.865	0.49290	L	-1.87	0.84415	D	-2.44	0.53420	N	0.737	0.78737	0.001	0.82287	D	0.609	0.86157	D	10	0.072579324	0.10852	T	0.034977	0.56039	D	0.601	0.84237	.	.	0.698452811345	0.69584	0.809407120335403	0.80895	0.409815521761	0.41790	0.554991185665	0.46561	T	0.656862	0.89654	D	-0.282554	0.10399	T	-0.184813	0.56074	T	0.0758827360547949	0.09452	T	0.960404	0.85375	D	0.16846016	0.37305	0.17105156	0.39259	0.16846016	0.37305	0.17105156	0.39258	-7.965	0.66882	D	.	.	0.496	0.65718	A	.;.	.;.	4.392426	0.67793	25.1	0.99858961551093162	0.93729	0.97257	0.73623	D	AEFBHCI	0.930876	0.91885	D	0.527565484461839	0.68727	5.256989	0.556267161321514	0.71836	5.715715	0.999999997020648	0.74766	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.662433	0.64102	0	.	.	6.06	4.91	0.63897	9.207000	0.94192	11.212000	0.89433	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.8692:0.1308:0.0:0.0	13.445	0.60584	301	0.87912	TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2935.11	149	chr11	120330187	.	A	G	2935.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.93;DP=966;ExcessHet=0.1072;FS=0.916;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.02;ReadPosRankSum=0.896;SOR=0.778	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1286	19	0	2	0
chr11	120480032	120480032	A	C	exonic	ARHGEF12	.	nonsynonymous SNV	ARHGEF12:NM_001198665:exon37:c.A3782C:p.H1261P	.	.	0	1518	4	0	0	4	0.00131579	.	.	2370349	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.29	T	0.256	B	0.099	B	0.029	N	1.000	N	0.695	N	-0.12	T	-1.021	T	0.133	T	0.476	2.061	12.85	1.95	0.077	0.749	4.927	0.103	0.0147333029515	.	.	8.281e-05	0.0001	0.0003	0	0	8.991e-05	0	0	8.41e-05	13	154602	rs770685105	0.0001	0.0001	0.0001	8.663e-05	0.0017	8.914e-05	8.399e-05	0.0009	0.0007	5.974e-05	0.0005	0	0	0	0.0017	9.352e-05	0.0002	1.159e-05	5.916e-05	5.911e-05	8.994e-05	2.691e-05	0.0001	3.078e-05	2.211e-05	4.765e-05	3.339e-05	0	0	0.0001	0	0	0	0	0.0001	0	0	0.031	0.46513	D	0.225	0.28669	T	0.256	0.31372	B	0.099	0.30579	B	0.029262	0.25478	N	0.276731	0.99999	0.08975	N	1.59	0.40313	L	-0.23	0.66652	T	-0.6	0.18459	N	0.52	0.59986	-1.0213	0.23292	T	0.133	0.44504	T	10	0.19680882	0.35587	T	0.014733	0.35036	T	0.103	0.29403	.	.	0.690006358082	0.68734	0.17300768178598638	0.17220	0.110598979453	0.12488	0.274334073067	0.06714	T	0.063104	0.32091	T	-0.274166	0.11297	T	-0.297446	0.44994	T	0.0376149530784323	0.03264	T	0.709329	0.31993	T	0.0779048	0.17710	0.08814408	0.20533	0.0779048	0.17709	0.08814408	0.20533	-3.084	0.11113	T	.	.	0.080	0.07937	B	.;.;.	.;.;.	1.537852	0.19722	14.41	0.93599610978937409	0.23457	0.68800	0.33940	D	AEFBI	0.240914	0.36262	N	-0.547643435791388	0.20558	1.084594	-0.472875998191769	0.22905	1.246385	0.0948511541239033	0.16214	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.6	1.95	0.25130	0.765000	0.26211	0.412000	0.18122	0.756000	0.94297	0.950000	0.33075	0.001000	0.17328	0.928000	0.46473	0.4731:0.1674:0.3595:0.0	4.927	0.13252	913	0.21160	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2075.98	35	chr11	120480032	.	A	C	2075.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.16;DP=866;ExcessHet=0.0000;FS=1.190;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=-5.500e-01;SOR=0.598	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1168	20	0	1	0
chr11	121125443	121125443	G	A	exonic	TBCEL-TECTA;TECTA	.	nonsynonymous SNV	TECTA:NM_005422:exon8:c.G1345A:p.V449I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.001	B	0.006	B	0.087	N	0.984	N	1.475	L	0.18	T	-0.985	T	0.118	T	0.067	1.330	10.36	-5.34	-0.561	0.233	11.668	0.112	0.00460918816102	.	.	3.295e-05	0	0	0.0001	0	4.496e-05	0	0	2.59e-05	4	154602	rs776376171	1.71e-05	1.71e-05	1.633e-05	1.788e-05	0.0002	1.174e-05	9.92e-06	8.198e-05	5.784e-05	0	0	0	0.0002	0	0	1.529e-05	1.656e-05	0	4.6e-05	4.597e-05	5.139e-05	4.035e-05	7.35e-05	2.109e-05	1.527e-05	2.846e-05	1.858e-05	4.827e-05	0	0	0	0	0	0	7.35e-05	0	0	0.363	0.11807	T	0.129	0.34837	T	0.001	0.07471	B	0.006	0.12133	B	0.086763	0.20569	N	0.514767	0.984418	0.24802	N	1.925	0.51371	L	0.18	0.60361	T	-0.03	0.07444	N	0.091	0.07262	-0.9850	0.33832	T	0.118	0.41582	T	10	0.049700737	0.04598	T	0.004609	0.11409	T	0.112	0.31546	.	.	0.264547087235	0.26054	0.6841598373123039	0.68354	0.268900675792	0.29402	0.388951003551	0.23521	T	0.138305	0.47171	T	-0.374647	0.03365	T	-0.595635	0.13181	T	0.04568329482861	0.04726	T	0.553245	0.19112	T	0.064116985	0.13572	0.06897109	0.14471	0.064116985	0.13571	0.06897109	0.14471	-4.537	0.31369	T	0.4094821815254526	0.50002	0.054	0.00533	B	.;.;.	.;.;.	1.172445	0.15621	11.99	0.71498671402819924	0.09649	0.16002	0.19184	N	AEFBI	0.117177	0.22966	N	-1.14767981072359	0.05818	0.2662281	-1.12659177966565	0.07195	0.3490933	0.00216706082901592	0.09203	0.553676	0.25195	0	0.59043	0.45803	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.72	-5.34	0.02496	0.106000	0.15191	1.446000	0.26567	-0.697000	0.04075	0.047000	0.21291	0.999000	0.35428	0.989000	0.64315	0.1781:0.1387:0.6832:0.0	11.668	0.50649	783	0.47268	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2135.98	39	chr11	121125443	.	G	A	2135.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.361e+00;DP=873;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=0.069;SOR=0.739	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1255	20	0	1	0
chr11	121589294	121589294	T	G	exonic	SORL1	.	nonsynonymous SNV	SORL1:NM_003105:exon29:c.T3982G:p.F1328V,	.	.	419	1102	1	0	0	1	0.000453515	.	.	2732976	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.3	T	0.4	B	0.174	B	0.000	D	1.000	D	0	N	-3.67	D	0.073	D	0.592	D	0.408	2.953	15.85	5.62	2.129	1.839	10.217	0.387	0.0810184033986	.	0.000199681	7.413e-05	0	0	0	0	0	0	0.0005	6.47e-05	10	154602	rs548397390	2.6e-05	2.599e-05	1.226e-05	3.989e-05	0.0004	1.933e-05	1.693e-05	0.0003	0.0003	0	0	0	0	0	0	0	1.657e-05	0.0004	1.313e-05	1.312e-05	0	2.685e-05	0.0004	2.18e-06	8.2e-07	7.29e-05	3.029e-05	0	0	0	0	0	0	0	0	0	0.0004	0.118	0.41364	T	0.042	0.50226	D	0.4	0.34852	B	0.174	0.35540	B	0.000002	0.62929	D	0.060345	0.959578	0.40024	D	0.365	0.12025	N	-3.67	0.95247	D	-2.73	0.58569	D	0.47	0.52208	0.073	0.83685	D	0.592	0.85412	D	10	0.12043622	0.22813	T	0.081018	0.73590	D	0.387	0.70358	0.478	0.55663	0.830931794557	0.82933	0.6467726630533859	0.64612	0.376818543332	0.39122	0.498202800751	0.38578	T	0.391079	0.75109	T	-0.0815589	0.39462	T	-0.0387742	0.67784	D	0.149803399215827	0.17088	T	0.837416	0.50983	T	0.26605707	0.49676	0.23284309	0.48457	0.26605707	0.49676	0.23284309	0.48456	-10.845	0.78801	D	.	.	0.113	0.40794	B	.;.;.;.	.;.;.;.	2.887656	0.38231	20.7	0.98573260778832772	0.43141	0.91138	0.52935	D	AEFGBHCI	0.391466	0.46990	N	-0.097867166347057	0.37485	2.181523	0.0898116327917083	0.44035	2.693094	0.999999956788911	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.530356	0.10902	0	.	.	5.62	5.62	0.85714	1.832000	0.38791	0.660000	0.20495	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0737:0.0:0.9263	10.217	0.42354	872	0.31118	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	922.98	35	chr11	121589294	.	T	G	922.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.550e-01;DP=784;ExcessHet=0.0000;FS=3.892;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.26;ReadPosRankSum=1.04;SOR=0.931	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr11	121625202	121625202	G	A	exonic	SORL1	.	nonsynonymous SNV	SORL1:NM_003105:exon46:c.G6289A:p.V2097I,	.	.	424	1095	2	1	0	4	0.00182315	.	.	752502	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.16	T	0.999	D	0.979	D	0.086	N	1.000	D	0.805	L	-0.02	T	-0.566	T	0.247	T	0.512	5.077	31	5.32	2.476	9.183	19.007	0.209	0.0246876495006	0.0007	0.00119808	0.0012	0	0.0004	0.0074	0	0.0011	0.0011	0.0003	0.0011966	185	154602	rs74642146	0.0011	0.0011	0.0011	0.0011	0.0050	0.0011	0.0010	0.0044	0.0042	0.0002	0.0004	0.0024	0.0050	5.616e-05	0.0002	0.0011	0.0008	0.0003	0.0008	0.0008	0.0010	0.0007	0.0056	0.0007	0.0007	0.0040	0.0035	0.0004	0	0.0007	0.0014	0.0056	0	0	0.0009	0.0014	0.0002	0.206	0.53172	T	0.0	0.92824	D	0.999	0.77913	D	0.979	0.74454	D	0.085661	0.20630	N	0.466331	0.999986	0.58761	D	1.7	0.43825	L	-0.02	0.62918	T	-0.54	0.19720	N	0.577	0.61341	-0.5655	0.66193	T	0.247	0.61600	T	10	0.0096253455	0.00217	T	0.024688	0.47677	T	0.209	0.49871	.	.	0.673404836468	0.67064	0.5797153268280987	0.57900	0.80779589675	0.66579	0.544460535049	0.45076	T	0.071814	0.34300	T	-0.283644	0.10286	T	-0.176486	0.56848	T	0.0451957220181716	0.04637	T	0.976102	0.91674	D	0.0461138	0.07664	0.07279943	0.15747	0.0461138	0.07664	0.07279943	0.15747	-4.32	0.28457	T	.	.	0.114	0.26947	B	.;.;.;.;.	.;.;.;.;.	4.922944	0.81098	27.5	0.99850322202121256	0.93013	0.98847	0.87641	D	AEFBI	0.880129	0.80655	D	0.690113816007144	0.78986	6.983038	0.72555623355056	0.84317	8.25901	0.999999999995056	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	5.32	5.32	0.75377	9.316000	0.95400	11.810000	0.96908	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	19.007	0.92834	856	0.34373	Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1727.98	36	chr11	121625202	.	G	A	1727.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=852;ExcessHet=0.0000;FS=4.748;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.80;ReadPosRankSum=0.395;SOR=0.417	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1339	20	0	1	0
chr11	122956566	122956566	T	C	exonic	JHY	.	nonsynonymous SNV	JHY:NM_001363088:exon6:c.T1886C:p.I629T	.	.	430	1083	9	0	0	9	0.00413793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.867	P	0.44	B	0.127	N	1.000	N	1.995	M	0.67	T	-0.897	T	0.144	T	0.312	2.257	13.50	4.04	0.785	1.361	10.797	0.068	0.0211651695689	0.0003	0.000399361	0.0006	0	0.0003	0	0	0.0011	0.0011	6.078e-05	0.0005692	88	154602	rs184211693	0.0005	0.0005	0.0004	0.0005	0.0017	0.0004	0.0004	0.0009	0.0007	5.981e-05	0.0003	0.0110	0	1.873e-05	0.0017	0.0002	0.0011	0.0002	0.0005	0.0005	0.0005	0.0005	0.0004	0.0004	0.0004	0.0003	0.0002	2.407e-05	0	0.0001	0.0118	0	0	0	0.0004	0.0014	0	0.115	0.28520	T	0.247	0.23914	T	0.867	0.47667	P	0.44	0.45726	B	0.126866	0.18788	N	0.534254	0.795917	0.29171	N	.	.	.	0.67	0.52187	T	-1.8	0.42384	N	0.607	0.62442	-0.8975	0.48244	T	0.144	0.46750	T	10	0.011454433	0.00250	T	0.021165	0.43897	T	0.068	0.19811	.	.	0.448201132538	0.44443	0.12752885424194546	0.12678	0.307147514716	0.33015	.	.	.	0.09904	0.40346	T	-0.35397	0.04483	T	-0.41208	0.31986	T	0.051745886712187	0.05803	T	0.685431	0.29402	T	0.09563983	0.22512	0.10980131	0.26466	0.09563983	0.22512	0.10980131	0.26466	-2.791	0.08101	T	.	.	0.389	0.61937	A	.;.	.;.	2.656135	0.34597	19.67	0.99049514804746341	0.51207	0.86463	0.45748	D	AEFBI	0.163482	0.28977	N	0.160164419097668	0.49293	3.131429	0.166288745196599	0.48010	3.022984	5.13663875507875E-4	0.07201	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.2	4.04	0.46262	1.378000	0.33935	1.839000	0.29174	0.665000	0.62972	0.932000	0.32345	0.991000	0.31484	0.932000	0.46971	0.0:0.0:0.1589:0.8411	10.797	0.45668	770	0.49152	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1066.98	37	chr11	122956566	.	T	C	1066.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.800e-01;DP=785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.12;ReadPosRankSum=1.20;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1063	20	0	1	0
chr11	123194924	123194926	AGA	-	exonic	CLMP	.	nonframeshift deletion	CLMP:NM_024769:exon1:c.15_17del:p.L9del,	Congenital short bowel syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0	0	0.0014	0.0001423	22	154602	rs764915660	8.487e-05	8.482e-05	5.857e-05	0.0001	0.0013	7.213e-05	6.8e-05	0.0011	0.0011	0	0	0	0	0	0	8.996e-07	0.0001	0.0013	2.626e-05	2.625e-05	0	5.369e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1362.94	33	chr11	123194923	.	GAGA	G	1362.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.626e+00;DP=754;ExcessHet=0.0000;FS=1.053;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.10;ReadPosRankSum=-3.440e-01;SOR=0.472	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1099	20	0	1	0
chr11	123600478	123600478	C	G	exonic	GRAMD1B	.	nonsynonymous SNV	GRAMD1B:NM_001286564:exon7:c.C431G:p.T144S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.403	B	0.128	B	0.000	D	1.000	D	1.78	L	1.79	T	-1.056	T	0.106	T	0.53	3.048	16.17	5.73	2.696	5.998	19.891	0.121	0.00697488557153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.40068	T	0.157	0.92824	T	0.025	0.19245	B	0.013	0.16460	B	0.000000	0.84330	D	0.048965	0.999998	0.58761	D	.	.	.	1.78	0.33630	T	-2.88	0.66665	D	0.505	0.61087	-1.0557	0.12855	T	0.106	0.38587	T	10	0.36328462	0.52902	T	0.006975	0.18458	T	0.121	0.33580	0.433	0.48336	0.0675242888579	0.06100	0.8389768776895002	0.83857	1.02529329724	0.75255	0.76203763485	0.76233	T	0.097725	0.59242	T	-0.0559376	0.43538	T	-0.318127	0.42779	T	0.93644791841507	0.60545	D	0.90461	0.66442	D	0.31020585	0.53803	0.22864804	0.47913	0.31020585	0.53803	0.22864804	0.47912	-8.741	0.67536	D	.	.	0.877	0.81814	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.016935	0.59304	24.1	0.99209496487932602	0.55533	0.98003	0.78791	D	AEFBI	0.834871	0.75286	D	0.179194077642483	0.50201	3.212391	0.339800409405817	0.57896	3.957203	0.999999991249642	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	5.73	5.73	0.89730	6.139000	0.71482	7.612000	0.61951	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.901000	0.43729	0.0:1.0:0.0:0.0	19.891	0.96928	702	0.57624	GRAM domain;GRAM domain;GRAM domain;GRAM domain;.;GRAM domain;GRAM domain;.;GRAM domain;GRAM domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05263	34.89	50	chr11	123600478	.	C	G	34.89	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.787e+00;DP=1170;ExcessHet=0.1072;FS=171.116;InbreedingCoeff=-0.0862;MLEAC=2;MLEAF=0.053;MQ=60.00;MQRankSum=0.00;QD=0.30;ReadPosRankSum=0.843;SOR=9.419	GT:AD:DP:GQ:PL	0/0:61,0:61:79:0,79,1197	17	0	2	2
chr11	123614769	123614769	C	T	exonic	GRAMD1B	.	nonsynonymous SNV	GRAMD1B:NM_001286564:exon16:c.C1703T:p.P568L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.999	D	0.864	P	0.002	N	1.000	D	1.1	L	2.02	T	-1.114	T	0.084	T	0.798	2.736	15.11	4.72	2.168	6.944	17.675	0.186	0.0267694947164	0.0002	.	0.0001	0.0001	0.0002	0	0	0.0002	0.0011	0	9.7e-05	15	154602	rs370988688	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	5.981e-05	0.0001	0.0003	0.0001	0	0	0.0003	0.0003	0	0.0001	0.0001	0.0001	6.724e-05	0.0002	6.511e-05	5.322e-05	0.0001	9.896e-05	2.413e-05	0	6.54e-05	0	0	0	0	0.0002	0	0	0.01	0.58626	D	0.119	0.40909	T	0.001	0.77913	B	0.0	0.61462	B	0.001910	0.37691	N	0.265745	1	0.81001	D	.	.	.	2.02	0.21119	T	-2.04	0.49187	N	0.882	0.89465	-1.1141	0.02740	T	0.084	0.32757	T	10	0.20815	0.37135	T	0.026769	0.49648	D	0.186	0.46104	.	.	0.082315109003	0.07666	0.8823134280282912	0.88199	0.665990436291	0.59170	0.65524995327	0.60731	T	0.038767	0.30673	T	-0.124141	0.32447	T	-0.12261	0.61588	T	0.0899428664570545	0.11212	T	0.983802	0.94506	D	0.076348245	0.17260	0.07554645	0.16643	0.076348245	0.17260	0.07554645	0.16642	-4.059	0.41989	T	.	.	0.103	0.24157	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.180550	0.62926	24.5	0.99523852203224006	0.69407	0.99585	0.97709	D	AEFDBI	0.839637	0.75702	D	0.0316606480196227	0.43299	2.625608	0.14040405484232	0.46638	2.906403	0.999999980983204	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.491896	0.07777	0	.	.	4.72	4.72	0.59248	7.023000	0.76175	7.584000	0.61047	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.516000	0.29383	0.0:1.0:0.0:0.0	17.675	0.88134	716	0.55970	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2446.98	33	chr11	123614769	.	C	T	2446.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.130;DP=1994;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=-8.000e-03;SOR=0.692	GT:AD:DP:GQ:PL	0/0:122,0:122:99:0,120,1800	20	0	1	0
chr11	123883161	123883161	G	A	exonic	TMEM225	.	nonsynonymous SNV	TMEM225:NM_001013743:exon4:c.C655T:p.R219C	.	.	431	1077	14	0	0	14	0.00645756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.482	P	0.05	B	0.000	D	1.000	N	0.975	L	1.17	T	-1.026	T	0.052	T	0.544	1.342	10.41	2.98	1.225	1.234	7.407	0.175	0.00414493850515	.	0.000998403	0.0012	0.0003	0.0003	0	0	6.001e-05	0.0011	0.0085	0.0010479	162	154602	rs201383725	0.0006	0.0006	0.0003	0.0009	0.0091	0.0006	0.0006	0.0086	0.0084	2.992e-05	2.238e-05	0	0	0	0.0024	3.059e-05	0.0007	0.0091	0.0003	0.0003	0.0001	0.0004	0.0070	0.0002	0.0002	0.0052	0.0045	0	0	0	0	0	0	0	7.352e-05	0	0.0070	0.002	0.72154	D	0.001	0.83351	D	.	.	.	.	.	.	0.000362	0.45194	D	0.000000	0.999999	0.08975	N	.	.	.	1.17	0.37910	T	-7.09	0.93950	D	0.258	0.29197	-1.0257	0.21853	T	0.052	0.22114	T	10	0.006457418	0.00146	T	0.004145	0.09931	T	0.175	0.44197	0.533	0.64148	0.082315109003	0.07666	0.17085404347730407	0.17005	0.174624828113	0.19662	0.419091820717	0.27712	T	.	.	.	-0.436273	0.01360	T	-0.392488	0.34261	T	0.167498312760511	0.18409	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.31381	B	.	.	3.361952	0.46415	22.3	0.95693108330412957	0.27572	0.02624	0.07210	N	AEFI	0.051674	0.09152	N	-0.596918522863486	0.19038	0.9932723	-0.673246039519624	0.17631	0.9383694	1.16492165728706E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.89	2.98	0.33575	1.273000	0.32724	1.854000	0.29277	0.676000	0.76740	0.009000	0.18154	0.012000	0.20211	0.001000	0.02609	0.1179:0.0:0.8821:0.0	7.407	0.26166	785	0.46916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	358.98	36	chr11	123883161	.	G	A	358.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.23;DP=719;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.26;ReadPosRankSum=0.960;SOR=0.527	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,1027	20	0	1	0
chr11	123943013	123943013	C	T	exonic	OR6T1	.	nonsynonymous SNV	OR6T1:NM_001005187:exon1:c.G826A:p.V276I,	.	.	433	1016	68	5	0	78	0.0369668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.747	P	0.179	B	.	.	1.000	N	1.13	L	8.44	T	-1.073	T	0.000	T	0.038	0.122	4.658	1.72	0.201	-0.420	1.932	0.060	.	0.0065	0.0081869	0.0100	0.0008	0.0065	0	0.0012	0.0097	0.0209	0.0280	0.009269	1433	154602	rs139333041	0.0087	0.0087	0.0079	0.0094	0.0477	0.0085	0.0085	0.0430	0.0412	0.0022	0.0061	0.0136	2.519e-05	0.0012	0.0477	0.0077	0.0107	0.0283	0.0068	0.0068	0.0070	0.0066	0.0274	0.0065	0.0063	0.0236	0.0222	0.0011	0.0011	0.0103	0.0138	0.0006	0.0014	0.0408	0.0088	0.0114	0.0274	0.203	0.20154	T	0.203	0.27325	T	0.747	0.43174	P	0.179	0.35808	B	.	.	.	.	1	0.08975	N	0.84	0.21119	L	8.44	0.00229	T	-0.55	0.16799	N	0.035	0.01004	-1.0733	0.08702	T	0.000	0.00075	T	9	0.010153651	0.00227	T	.	.	.	0.060	0.17295	.	.	.	.	0.0191124744557639	0.01865	0.0491267032822	0.05371	0.189285472035	0.00213	T	0.004397	0.03807	T	-0.759818	0.00015	T	-0.843253	0.01051	T	0.00305530430589814	0.00032	T	0.328667	0.06851	T	0.04899516	0.08630	0.032111116	0.01896	0.04899516	0.08629	0.032111116	0.01896	-4.387	0.29381	T	.	.	0.080	0.07937	B	.	.	-0.036252	0.04038	0.931	0.96464211205943551	0.29911	0.10409	0.15924	N	AEFI	0.064385	0.12500	N	-0.838860823313599	0.12325	0.6000964	-0.963892808539815	0.10602	0.5350243	2.32834928764527E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.7	1.72	0.23498	-1.643000	0.02106	-4.186000	0.02293	-0.231000	0.07715	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2019:0.4776:0.1968:0.1236	1.932	0.03128	883	0.28872	GPCR, rhodopsin-like, 7TM	.	.	HEPACAM	Adipose_Subcutaneous	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3534.98	34	chr11	123943013	.	C	T	3534.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.841;DP=999;ExcessHet=0.0000;FS=3.364;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=-8.560e-01;SOR=0.909	GT:AD:DP:GQ:PL	0/1:127,142:269:99:3549,0,2987	20	0	1	0
chr11	123943051	123943051	G	C	exonic	OR6T1	.	stopgain	OR6T1:NM_001005187:exon1:c.C788G:p.S263X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.099	12.97	3.39	1.704	0.041	7.879	.	.	.	0.000199681	0.0002	0	0	0	0	4.495e-05	0	0.0013	0.0001876	29	154602	rs571668570	9.44e-05	9.44e-05	5.445e-05	0.0001	0.0011	8.134e-05	7.65e-05	0.0009	0.0008	0	8.944e-05	0	0	0	0.0003	2.878e-05	0.0001	0.0011	0.0002	0.0002	0.0001	0.0002	0.0009	0.0001	0.0001	0.0006	0.0004	0	0	0.0009	0	0	0	0	0.0001	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999996	0.58761	D	.	.	.	.	.	.	.	.	.	0.013	0.00142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100077	0.64300	D	0.314629	0.88860	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.484272	0.96564	36	0.9901371651516897	0.50420	0.08942	0.14793	N	AEFI	0.041011	0.06178	N	0.38642830820306	0.60687	4.260261	0.0441258952963815	0.41788	2.516477	9.83115507142018E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.39	3.39	0.37919	0.164000	0.16359	1.114000	0.24184	0.626000	0.51810	0.000000	0.06391	0.002000	0.18203	0.932000	0.46971	0.0:0.0:0.7535:0.2465	7.879	0.28773	883	0.28872	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3269.98	34	chr11	123943051	.	G	C	3269.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.400e-02;DP=1212;ExcessHet=0.0000;FS=6.999;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=0.371;SOR=0.537	GT:AD:DP:GQ:PL	0/0:267,0:267:99:0,120,1800	20	0	1	0
chr11	123943438	123943438	G	T	exonic	OR6T1	.	nonsynonymous SNV	OR6T1:NM_001005187:exon1:c.C401A:p.T134N,	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.719	P	0.41	B	.	.	1.000	N	2.24	M	6.62	T	-0.932	T	0.002	T	0.155	0.833	8.361	1.96	0.301	-0.298	7.436	0.040	0.00330630974537	0.0049	0.00219649	0.0041	0.0015	0.0026	0	0.0030	0.0056	0.0078	0.0030	0.004282	662	154602	rs145832379	0.0063	0.0063	0.0064	0.0062	0.0074	0.0062	0.0061	0.0073	0.0072	0.0007	0.0030	0.0007	0	0.0023	0.0014	0.0074	0.0059	0.0034	0.0045	0.0045	0.0046	0.0044	0.0073	0.0042	0.0041	0.0067	0.0065	0.0010	0.0417	0.0039	0	0	0.0033	0.0034	0.0073	0.0028	0.0023	0.015	0.52492	D	0.057	0.46406	T	0.719	0.42322	P	0.41	0.44785	B	.	.	.	.	1	0.08975	N	2.29	0.65257	M	6.62	0.00515	T	-3.94	0.73378	D	0.331	0.37197	-0.9325	0.43770	T	0.002	0.00676	T	9	0.012480944	0.00268	T	0.003306	0.07329	T	0.040	0.10527	.	.	0.459100921832	0.45533	0.12361447900885349	0.12287	0.0522752924794	0.05748	0.287145197392	0.08508	T	0.013366	0.11574	T	-0.618413	0.00112	T	-0.654119	0.08667	T	0.054620371212835	0.06294	T	0.684832	0.29327	T	0.29160312	0.52141	0.17342089	0.39667	0.29160312	0.52141	0.17342089	0.39666	-7.262	0.55925	T	.	.	0.092	0.13456	B	.	.	0.090294	0.04941	1.512	0.97011430873364379	0.31985	0.12208	0.17127	N	AEFI	0.080405	0.16256	N	-0.40508377701742	0.25291	1.371778	-0.587327501750802	0.19823	1.065298	8.16519846140638E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.85	1.96	0.25203	-1.149000	0.03292	-3.486000	0.02750	-0.164000	0.11507	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.2204:0.0:0.7796:0.0	7.436	0.26326	883	0.28872	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1710.98	34	chr11	123943438	.	G	T	1710.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.050e-01;DP=1535;ExcessHet=0.0000;FS=0.593;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.90;ReadPosRankSum=0.380;SOR=0.681	GT:AD:DP:GQ:PL	0/0:110,0:110:99:0,120,1800	20	0	1	0
chr11	123994528	123994528	C	T	exonic	OR10G6	.	nonsynonymous SNV	OR10G6:NM_001355219:exon1:c.G634A:p.D212N,	.	.	795	712	14	1	0	16	0.0111111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00359425	0.0131	0.0026	0	0	0.0161	0.0169	0	0.0088	0.0027102	419	154602	rs17128087	0.0125	0.0059	0.0126	0.0125	0.0156	0.0121	0.0120	0.0151	0.0148	0.0015	0.0085	0.0084	0	0.0116	0.0077	0.0156	0.0116	0.0096	0.0100	0.0100	0.0105	0.0094	0.0154	0.0096	0.0094	0.0146	0.0143	0.0028	0	0.0086	0.0087	0.0002	0.0108	0.0170	0.0154	0.0123	0.0097	.	.	.	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.16725	.	.	.	.	.	.	.	0.0054508448	0.00120	T	.	.	.	.	.	.	.	.	.	0.12436243897469361	0.12362	.	.	.	.	.	0.019733	0.15664	T	-0.438119	0.01327	T	-0.388478	0.34729	T	.	.	.	0.953705	0.82322	D	0.066010684	0.14162	0.1682235	0.38766	0.066010684	0.14161	0.1682235	0.38765	-5.832	0.44852	T	.	.	0.145	0.31882	B	.	.	2.654133	0.34565	19.66	0.74879977236506545	0.10862	0.02657	0.07269	N	AEFBI	0.036726	0.04940	N	.	.	.	.	.	.	1.40757368021625E-5	0.02871	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.062806	0.01542	0	.	.	4.58	3.66	0.41111	-0.329000	0.07978	0.369000	0.17657	0.551000	0.28136	0.000000	0.06391	0.004000	0.18990	0.457000	0.28051	0.0:0.7748:0.1435:0.0817	9.499	0.38171	817	0.41665	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4507.66	34	chr11	123994528	.	C	T	4507.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.65;DP=1618;ExcessHet=0.0000;FS=9.525;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=22.10;ReadPosRankSum=-1.890e-01;SOR=0.727	GT:AD:DP:GQ:PL	0/0:133,0:133:99:0,120,1800	19	1	1	0
chr11	124038235	124038235	A	G	exonic	OR10G7	.	nonsynonymous SNV	OR10G7:NM_001004463:exon1:c.T767C:p.F256S,	.	.	430	1080	12	0	0	12	0.00552486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.754	P	0.799	P	0.000	D	1.000	N	1.7	L	8.35	T	-0.965	T	0.001	T	0.732	2.396	13.97	3.38	1.547	2.763	3.701	0.173	0.0012639598594	0.0002	0.000798722	0.0010	9.612e-05	0.0002	0	0	0.0006	0	0.0046	0.0008991	139	154602	rs148603378	0.0006	0.0006	0.0005	0.0007	0.0054	0.0006	0.0006	0.0039	0.0035	2.987e-05	0.0010	3.826e-05	0	0	0.0054	0.0003	0.0011	0.0040	0.0009	0.0009	0.0006	0.0012	0.0044	0.0008	0.0007	0.0036	0.0033	7.231e-05	0	0.0044	0	0	0	0.0068	0.0007	0	0.0035	0.027	0.46513	D	0.029	0.54541	D	0.754	0.43358	P	0.799	0.58136	P	0.000430	0.44522	D	0.000000	1	0.08975	N	1.01	0.25309	L	8.35	0.00252	T	-4.84	0.81030	D	0.272	0.30800	-0.9647	0.38270	T	0.001	0.00378	T	10	0.00906238	0.00205	T	0.001264	0.01708	T	0.173	0.43840	.	.	0.273938319068	0.27005	0.20960467408739974	0.20876	1.75556076404	0.91035	0.401213228703	0.25237	T	0.014316	0.12210	T	-0.37591	0.03305	T	-0.312342	0.43406	T	0.0768567777337901	0.09580	T	0.664534	0.27348	T	0.2927658	0.52249	0.32697365	0.58600	0.2927658	0.52248	0.32697365	0.58599	-6.911	0.53380	T	.	.	0.349	0.57205	A	.;.	.;.	3.436624	0.47789	22.5	0.99788957865371986	0.87484	0.11369	0.16588	N	AEFI	0.099693	0.20062	N	0.103229472828347	0.46613	2.899002	0.0114108903244044	0.40245	2.398666	5.8586254778041E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	3.38	3.38	0.37806	1.219000	0.32083	1.788000	0.28774	0.733000	0.85838	0.003000	0.16062	0.000000	0.08366	0.845000	0.39915	0.7004:0.0:0.1071:0.1925	3.701	0.07914	791	0.46100	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2693.98	34	chr11	124038235	.	A	G	2693.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.250e+00;DP=906;ExcessHet=0.0000;FS=1.703;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.25;MQRankSum=0.077;QD=12.53;ReadPosRankSum=0.295;SOR=0.824	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1238	20	0	1	0
chr11	124038586	124038586	G	A	exonic	OR10G7	.	nonsynonymous SNV	OR10G7:NM_001004463:exon1:c.C416T:p.S139L,	.	.	429	1082	11	0	0	11	0.00505747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.008	B	0.009	B	0.182	N	1.000	N	-2.265	N	8.99	T	-1.018	T	0.000	T	0.099	-1.611	0.013	-2.56	-0.761	-1.175	5.615	0.009	0.000664931646905	0.0006	0.00119808	0.0011	9.61e-05	0.0003	0	0.0002	0.0010	0.0033	0.0036	0.0010284	159	154602	rs146400208	0.0010	0.0010	0.0009	0.0011	0.0043	0.0010	0.0009	0.0040	0.0038	0.0003	0.0003	0.0001	2.519e-05	0.0003	0.0040	0.0009	0.0011	0.0043	0.0007	0.0007	0.0007	0.0007	0.0033	0.0006	0.0006	0.0021	0.0017	0.0001	0	0.0004	0	0.0002	0.0002	0	0.0011	0.0014	0.0033	0.52	0.07259	T	0.617	0.07518	T	0.008	0.14655	B	0.009	0.14300	B	0.181893	0.03187	N	1.773420	1	0.08975	N	-1.92	0.00231	N	8.99	0.00021	T	3.18	0.00118	N	0.055	0.02658	-1.0178	0.24431	T	0.000	0.00039	T	10	0.008326083	0.00189	T	6.65E-4	0.00367	T	0.009	0.00846	.	.	0.104622674875	0.10061	0.23667617299537047	0.23582	0.423344336073	0.42799	0.228924363852	0.01890	T	3.73E-4	0.00113	T	-0.726008	0.00025	T	-0.817742	0.01498	T	0.000653516565845912	0.00006	T	0.213579	0.02626	T	0.030913437	0.02837	0.030772457	0.01576	0.030913437	0.02837	0.030772457	0.01576	-1.111	0.01131	T	.	.	0.091	0.17146	B	.;.	.;.	-0.709100	0.01300	0.070	0.59813674587783394	0.06313	0.01029	0.03860	N	AEFI	0.031852	0.03484	N	-1.74572513373214	0.00692	0.02986915	-1.71136203785179	0.01088	0.04886294	5.66277978623558E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.24	-2.56	0.05903	-2.859000	0.00796	-15.256000	0.00365	-0.745000	0.03636	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3552:0.3952:0.2495:0.0	5.615	0.16708	792	0.45996	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	5253.98	34	chr11	124038586	.	G	A	5253.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.60;DP=3627;ExcessHet=0.0000;FS=0.528;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.41;MQRankSum=-6.320e-01;QD=12.22;ReadPosRankSum=2.36;SOR=0.754	GT:AD:DP:GQ:PL	0/0:440,0:440:99:0,120,1800	20	0	1	0
chr11	124038713	124038713	C	T	exonic	OR10G7	.	nonsynonymous SNV	OR10G7:NM_001004463:exon1:c.G289A:p.V97M,	.	.	415	1096	11	0	0	11	0.00499319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.242	B	0.15	B	0.407	N	1.000	N	0.9	L	7.79	T	-1.039	T	0.001	T	0.164	-0.643	1.163	0.406	-0.014	-0.978	7.533	0.007	0.000708251024096	0.0006	0.00119808	0.0013	0.0003	0.0003	0	0.0006	0.0011	0.0033	0.0045	0.0011449	177	154602	rs147002134	0.0010	0.0011	0.0009	0.0011	0.0045	0.0010	0.0010	0.0041	0.0040	0.0004	0.0003	0.0001	5.038e-05	0.0003	0.0040	0.0009	0.0011	0.0045	0.0007	0.0007	0.0007	0.0008	0.0033	0.0006	0.0006	0.0021	0.0017	0.0002	0	0.0005	0	0.0004	0.0002	0	0.0011	0.0014	0.0033	0.123	0.27544	T	0.296	0.20615	T	0.242	0.30930	B	0.15	0.34161	B	0.406531	0.13054	N	0.660744	0.999749	0.20516	N	0.455	0.12820	N	7.79	0.00337	T	-0.61	0.18042	N	0.083	0.05929	-1.0388	0.17678	T	0.001	0.00222	T	10	0.0064130723	0.00145	T	7.08E-4	0.00454	T	0.007	0.00512	.	.	0.0986583533028	0.09354	0.043940575452420486	0.04338	0.642352258747	0.57803	0.366218328476	0.20287	T	0.003398	0.02809	T	-0.637164	0.00087	T	-0.689175	0.06436	T	0.00155785847818916	0.00016	T	0.528747	0.17479	T	0.034039438	0.03743	0.045023117	0.05964	0.034039438	0.03743	0.045023117	0.05964	-1.855	0.02678	T	.	.	0.155	0.35331	B	.;.	.;.	0.490340	0.08598	5.363	0.93367455725953397	0.23109	0.04419	0.10011	N	AEFI	0.044659	0.07214	N	-1.14809718245586	0.05811	0.2658876	-1.21311517813528	0.05699	0.2722578	1.72675239162619E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.39	0.406	0.15584	-1.043000	0.03646	-12.459000	0.00523	-0.837000	0.02821	0.000000	0.06391	0.000000	0.08366	0.196000	0.21779	0.0:0.5071:0.0:0.4928	7.533	0.26860	792	0.45996	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3550.98	34	chr11	124038713	.	C	T	3550.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.74;DP=2278;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.23;MQRankSum=-3.136e+00;QD=12.20;ReadPosRankSum=0.981;SOR=0.685	GT:AD:DP:GQ:PL	0/0:174,0:174:99:0,120,1800	20	0	1	0
chr11	124124243	124124243	G	A	exonic	VWA5A	.	nonsynonymous SNV	VWA5A:NM_014622:exon10:c.G1171A:p.V391I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.329	B	0.361	B	0.000	N	1.000	D	0.435	N	3.3	T	-0.883	T	0.015	T	0.35	2.584	14.60	2.61	0.715	1.459	9.383	0.046	0.00990407176567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.84e-07	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.25154	T	0.357	0.17910	T	0.329	0.33227	B	0.361	0.43233	B	0.000194	0.48115	N	0.181797	0.963696	0.81001	D	1.42	0.35681	L	3.3	0.06368	T	-0.66	0.19720	N	0.291	0.37301	-0.8830	0.49521	T	0.015	0.05994	T	10	0.108765215	0.20260	T	0.009904	0.25788	T	0.046	0.12618	0.478	0.55663	0.0138822411134	0.00435	0.04053202408620028	0.03999	0.0351742597485	0.03706	0.322875797749	0.13856	T	0.003542	0.07968	T	-0.182407	0.23378	T	-0.499791	0.22369	T	0.302465289831161	0.25105	T	0.819518	0.47762	T	0.018080682	0.00330	0.04089179	0.04523	0.018080682	0.00330	0.04089179	0.04522	-5.621	0.42984	T	.	.	0.075	0.14062	B	.;.;.;.;.	.;.;.;.;.	2.012951	0.25578	16.81	0.98826696458155405	0.46886	0.81488	0.40881	D	AEFBCI	0.138461	0.25976	N	-0.284136760244121	0.29761	1.653285	-0.136057321502458	0.33949	1.947467	0.978198650544519	0.29896	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.68	2.61	0.30255	1.321000	0.33283	.	.	-0.123000	0.13640	1.000000	0.71638	0.993000	0.31925	0.960000	0.51673	0.0762:0.2702:0.6536:0.0	9.383	0.37485	768	0.49510	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1312.98	35	chr11	124124243	.	G	A	1312.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.270e+00;DP=796;ExcessHet=0.0000;FS=3.627;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=-1.159e+00;SOR=0.432	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1146	20	0	1	0
chr11	124250357	124250357	A	G	exonic	OR8G1	.	nonsynonymous SNV	OR8G1:NM_001002905:exon1:c.A682G:p.I228V,	.	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00206457980803	.	.	8.284e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs201337998	3.284e-05	3.283e-05	2.723e-05	3.851e-05	0.0049	2.544e-05	2.249e-05	0.0035	0.0030	8.964e-05	0	0	0	0	0.0049	8.095e-06	8.282e-05	3.478e-05	2.632e-05	2.628e-05	1.286e-05	4.043e-05	6.563e-05	8.15e-06	5.15e-06	4.88e-06	1.83e-06	2.418e-05	0	6.563e-05	0	0	0	0	2.942e-05	0	0	.	.	.	0.017	0.60337	D	0.994	0.66517	D	0.912	0.64797	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.18512	.	.	.	.	.	.	.	0.29946876	0.47499	T	0.002065	0.03775	T	.	.	.	.	0.303781844768	0.29979	0.03526639363846512	0.03473	.	.	0.256827145815	0.04520	T	0.016569	0.13673	T	-0.0382702	0.46205	T	-0.277263	0.47083	T	.	.	.	0.792521	0.43410	T	0.057245098	0.11369	0.16767995	0.38671	0.057245098	0.11369	0.16767995	0.38670	-6.861	0.53011	T	.	.	0.184	0.39865	B	.;.	.;.	1.797948	0.22853	15.79	0.73273820769660569	0.10269	0.27256	0.23226	N	AEFBI	0.155853	0.28112	N	.	.	.	.	.	.	0.344079308713386	0.19613	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.058706	0.01089	0	.	.	2.88	2.88	0.32617	0.190000	0.16864	.	.	0.506000	0.23061	0.000000	0.06391	0.974000	0.29927	0.001000	0.02609	1.0:0.0:0.0:0.0	11.626	0.50403	751	0.51694	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1663.98	170	chr11	124250357	.	A	G	1663.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.535e+00;DP=2582;ExcessHet=0.0000;FS=0.616;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=-2.215e+00;SOR=0.594	GT:AD:DP:GQ:PL	0/0:211,0:211:99:0,120,1800	20	0	1	0
chr11	124250540	124250540	-	GCTACATATGTTTTTAAATCTAATCTAATTTAATTTATATTTCAAGTTGATTAAAATTTAC	exonic	OR8G1	.	stopgain	OR8G1:NM_001002905:exon1:c.865_866insGCTACATATGTTTTTAAATCTAATCTAATTTAATTTATATTTCAAGTTGATTAAAATTTAC:p.I289Sfs*6,	.	.	812	661	1	2	46	51	0.0037679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0.0012	0.0013	0.0014	0.0268	0.0013	0.0013	0.0228	0.0213	0.0010	0.0002	0.0004	0.0009	0.0180	0.0268	0.0004	0.0007	0.0024	0.0042	0.0044	0.0039	0.0046	0.0058	0.0039	0.0038	0.0039	0.0038	0.0046	0.0049	0.0034	0.0030	0.0033	0.0029	0.0212	0.0044	0.0045	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04545	920.0	39	chr11	124250540	.	A	AGCTACATATGTTTTTAAATCTAATCTAATTTAATTTATATTTCAAGTTGATTAAAATTTAC	920.0	.	AC=1;AF=0.045;AN=22;BaseQRankSum=4.95;DP=1796;ExcessHet=0.0000;FS=37.269;InbreedingCoeff=0.2727;MLEAC=2;MLEAF=0.091;MQ=60.00;MQRankSum=0.00;QD=4.38;ReadPosRankSum=-3.807e+00;SOR=2.628	GT:AD:DP:GQ:PL	0/0:198,0:198:99:0,120,1800	10	0	1	10
chr11	124440622	124440622	C	T	exonic	OR8B8	.	nonsynonymous SNV	OR8B8:NM_012378:exon1:c.G464A:p.G155E,	.	.	424	1062	34	2	0	38	0.0175763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.848	P	0.651	P	0.031	N	1.000	N	1.9	L	1.21	T	-0.999	T	0.113	T	0.514	2.387	13.94	3.52	2.257	0.182	4.610	0.135	0.00438921995786	0.0021	0.000998403	0.0028	0.0002	0.0010	0	0.0002	0.0026	0.0077	0.0085	0.0024644	381	154602	rs140865479	0.0024	0.0024	0.0022	0.0026	0.0094	0.0023	0.0023	0.0078	0.0076	0.0004	0.0015	0.0113	0	1.872e-05	0.0094	0.0020	0.0029	0.0083	0.0020	0.0020	0.0020	0.0021	0.0064	0.0018	0.0018	0.0047	0.0041	0.0004	0	0.0030	0.0127	0	9.425e-05	0	0.0024	0.0028	0.0064	0.065	0.36310	T	0.106	0.37872	T	0.848	0.46844	P	0.651	0.52497	P	0.031170	0.25205	N	0.280453	1	0.08975	N	1.46	0.36832	L	1.21	0.37230	T	-5.93	0.89029	D	0.161	0.16864	-0.9993	0.30115	T	0.113	0.40354	T	10	0.008491397	0.00192	T	0.004389	0.10718	T	0.135	0.36572	.	.	0.667980572847	0.66518	0.6225345544862408	0.62186	0.0525529913828	0.05790	0.266837418079	0.05732	T	0.019694	0.15640	T	-0.446841	0.01179	T	-0.408376	0.32412	T	0.0992580273878766	0.12276	T	0.412859	0.10744	T	0.35347536	0.57336	0.3822487	0.63215	0.35347536	0.57337	0.3822487	0.63215	-7.199	0.55474	T	.	.	0.447	0.62038	A	.;.	.;.	4.085704	0.60807	24.3	0.99434978174576394	0.64472	0.08460	0.14386	N	AEFBCI	0.068063	0.13408	N	0.101083701202438	0.46514	2.890536	0.0160951037361045	0.40462	2.415092	0.999707412909964	0.41986	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.52	3.52	0.39415	0.418000	0.20950	.	.	0.599000	0.40250	0.001000	0.13787	0.206000	0.23607	0.974000	0.55675	0.0:0.7221:0.0:0.2779	4.610	0.11784	769	0.49307	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2960.98	33	chr11	124440622	.	C	T	2960.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.000e-03;DP=919;ExcessHet=0.0000;FS=2.393;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.37;ReadPosRankSum=2.93;SOR=0.883	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	20	0	1	0
chr11	124681457	124681457	G	A	exonic	SPA17	.	nonsynonymous SNV	SPA17:NM_017425:exon3:c.G223A:p.E75K,	.	.	439	1081	2	0	0	2	0.000924214	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.0	B	0.035	N	1.000	N	-1.59	N	.	.	-0.948	T	0.016	T	0.101	-0.043	3.797	0.645	-0.131	0.452	10.005	0.025	0.0014225828717	.	0.000399361	4.961e-05	0	0	0.0002	0	3.007e-05	0	0.0001	5.17e-05	8	154602	rs187798202	3.712e-05	3.899e-05	3.207e-05	4.223e-05	0.0001	2.896e-05	2.626e-05	5.701e-05	4.263e-05	3.098e-05	4.782e-05	0	0	0	0	3.662e-05	1.704e-05	0.0001	2.629e-05	2.625e-05	2.572e-05	2.688e-05	0.0002	8.14e-06	5.14e-06	7.98e-06	2.99e-06	4.816e-05	0	0	0	0.0002	0	0	0	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.0	0.01387	B	0.035459	0.24643	N	0.379200	0.988686	0.24383	N	-2.08	0.00163	N	.	.	.	1.2	0.01078	N	0.237	0.26717	-0.9477	0.41364	T	0.016	0.06473	T	9	0.026768506	0.00836	T	0.001423	0.02113	T	0.025	0.05312	.	.	0.0954503805726	0.09146	0.2286648874673754	0.22781	0.0174709333774	0.01699	0.274932265282	0.06795	T	0.003838	0.03252	T	-0.435439	0.01376	T	-0.614945	0.11587	T	0.021227203309536	0.00824	T	0.70313	0.31322	T	0.025251266	0.01442	0.052173365	0.08543	0.025251266	0.01442	0.052173365	0.08542	0.305	0.00257	T	.	.	0.058	0.00767	B	.;.	.;.	0.336764	0.07107	3.679	0.74644729493588258	0.10773	0.13645	0.17972	N	AEFBI	0.031078	0.03251	N	-1.15128946793707	0.05759	0.2633691	-0.894943676774458	0.12213	0.6269239	1.2167206528848E-5	0.02871	0.706298	0.61202	0	0.670034	0.63936	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.81	0.645	0.16954	0.428000	0.21114	.	.	-0.715000	0.03906	0.998000	0.41325	1.000000	0.68203	0.094000	0.17991	0.364:0.5639:0.0721:0.0	10.005	0.41120	872	0.31118	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	517.98	34	chr11	124681457	.	G	A	517.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.553;DP=624;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.19;ReadPosRankSum=-2.580e+00;SOR=0.507	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1083	20	0	1	0
chr11	124694413	124694413	T	-	exonic	SPA17	.	frameshift deletion	SPA17:NM_017425:exon5:c.423delT:p.L142Ffs*23,	.	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.84e-07	0	1.376e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3732.05	33	chr11	124694412	.	GT	G	3732.05	.	AC=2;AF=0.048;AN=42;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.88;SOR=0.804	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1133	20	1	0	0
chr11	124753693	124753693	C	T	exonic	ESAM	.	nonsynonymous SNV	ESAM:NM_138961:exon7:c.G1126A:p.V376M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	D	1.000	D	2.305	M	0.76	T	-0.572	T	0.181	T	0.229	4.315	22.6	5.17	2.553	2.216	15.935	0.171	.	0.0067	0.00499201	0.0020	0.0225	0.0003	0	0	1.503e-05	0	0	0.001824	282	154602	rs115917151	0.0006	0.0006	0.0007	0.0005	0.0223	0.0006	0.0005	0.0210	0.0205	0.0223	0.0009	0	0	0	0.0003	5.396e-06	0.0011	5.797e-05	0.0059	0.0059	0.0063	0.0055	0.0208	0.0056	0.0055	0.0197	0.0192	0.0208	0	0.0016	0	0	0	0	4.41e-05	0.0043	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.9	0.83903	M	0.76	0.49919	T	-2.16	0.48850	N	0.22	0.24634	-0.5720	0.65935	T	0.181	0.52782	T	10	0.007961243	0.00181	T	.	.	.	0.171	0.43483	.	.	0.634567249438	0.63156	0.5435755604129361	0.54283	0.2243977869	0.24973	0.603389203548	0.53382	T	0.375193	0.73884	T	-0.419159	0.01732	T	-0.357284	0.38366	T	0.0832708011257711	0.10400	T	0.957104	0.83854	D	0.552112	0.70073	0.48960522	0.70469	0.552112	0.70074	0.48960522	0.70469	-7.117	0.54882	T	.	.	0.191	0.40984	B	.	.	3.862565	0.56023	23.7	0.99863524353812805	0.94184	0.84352	0.43434	D	AEFDBCI	0.493959	0.52996	N	0.683490743740407	0.78552	6.894461	0.641120874031742	0.77949	6.779276	0.999999999998887	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.596491	0.31596	0	0.735409	0.98432	0	.	.	5.17	5.17	0.70848	2.136000	0.41744	.	.	0.599000	0.40250	0.966000	0.33990	0.919000	0.28284	0.987000	0.62547	0.0:1.0:0.0:0.0	15.935	0.79482	693	0.58582	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1075.98	62	chr11	124753693	.	C	T	1075.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.270;DP=765;ExcessHet=0.0000;FS=5.201;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.35;ReadPosRankSum=0.087;SOR=1.093	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1378	20	0	1	0
chr11	124887133	124887133	G	A	exonic	ROBO4	.	nonsynonymous SNV	ROBO4:NM_001301088:exon15:c.C1844T:p.P615L	.	.	397	1095	27	3	0	33	0.0148448	.	.	2852051	ROBO4-related_disorder|Familial_thoracic_aortic_aneurysm_and_aortic_dissection	.|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.45	T	0.001	B	0.005	B	0.857	N	0.862	N	1.085	L	0.28	T	-0.963	T	0.126	T	0.049	1.795	11.96	3.44	0.824	1.833	9.307	0.068	.	0.0038	0.0061901	0.0052	0.0004	0.0029	0.0003	0.0011	0.0045	0.0092	0.0169	0.0049999	773	154602	rs146276743	0.0050	0.0050	0.0045	0.0055	0.0171	0.0049	0.0049	0.0164	0.0161	0.0007	0.0022	0.0136	7.557e-05	0.0019	0.0080	0.0044	0.0061	0.0171	0.0039	0.0039	0.0038	0.0039	0.0137	0.0036	0.0035	0.0110	0.0101	0.0008	0	0.0039	0.0141	0.0004	0.0008	0.0034	0.0053	0.0052	0.0137	0.124	0.34621	T	0.056	0.46632	T	0.001	0.07471	B	0.001	0.04355	B	0.857056	0.07093	N	1.099000	0.961538	0.28344	N	1.095	0.27400	L	-0.09	0.64086	T	-0.72	0.38540	N	0.095	0.13055	-0.9629	0.38625	T	0.126	0.43194	T	10	0.0053919554	0.00118	T	.	.	.	0.068	0.19811	.	.	0.726765420178	0.72434	0.4307432230054054	0.42991	0.311846561494	0.33486	0.324699938297	0.14132	T	0.076017	0.35318	T	-0.545079	0.00312	T	-0.541465	0.18154	T	0.00982392410411275	0.00129	T	0.768023	0.39669	T	0.059982676	0.12254	0.053915348	0.09172	0.06661468	0.14349	0.053915348	0.09171	-3.713	0.19510	T	0.2919736196309515	0.38863	0.092	0.13503	B	.;.	.;.	2.522208	0.32594	19.09	0.9924386738709855	0.56630	0.61351	0.31459	D	AEFDBCI	0.176861	0.30409	N	-0.570417262163298	0.19849	1.041997	-0.497944637819832	0.22211	1.205256	0.998964941772589	0.38084	0.722319	0.85440	0	0.59043	0.45803	0	0.59043	0.30614	0	0.735409	0.98432	0	.	.	4.35	3.44	0.38486	1.090000	0.30514	.	.	0.674000	0.70861	0.876000	0.30908	1.000000	0.68203	0.033000	0.13494	0.103:0.0:0.897:0.0	9.307	0.37040	711	0.56613	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	600.98	35	chr11	124887133	.	G	A	600.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.78;DP=782;ExcessHet=0.0000;FS=8.010;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.13;ReadPosRankSum=-2.222e+00;SOR=1.273	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1140	20	0	1	0
chr11	124893896	124893896	G	C	exonic	ROBO4	.	nonsynonymous SNV	ROBO4:NM_001301088:exon9:c.C1033G:p.H345D	.	.	.	.	.	.	.	.	.	.	.	2852274	Familial_thoracic_aortic_aneurysm_and_aortic_dissection	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.12	T	0.967	D	0.339	B	0.033	N	0.937	N	1.79	L	0.31	T	-0.827	T	0.179	T	0.418	3.372	17.37	4.34	1.065	0.876	6.846	0.168	.	.	0.00179712	0.0019	0	0.0005	0	0	0	0.0025	0.0134	0.0014553	225	154602	rs564107859	0.0008	0.0008	0.0004	0.0012	0.0133	0.0008	0.0008	0.0127	0.0124	0	0	0	0	0	0	8.995e-07	0.0005	0.0133	0.0003	0.0003	0.0001	0.0005	0.0100	0.0002	0.0002	0.0077	0.0069	0	0	0	0	0	0	0	0	0	0.0100	0.016	0.54683	D	0.074	0.42976	T	0.967	0.56408	D	0.339	0.42346	B	0.032669	0.24997	N	0.199993	0.937181	0.26897	N	2.25	0.63811	M	-0.06	0.63568	T	-3.57	0.74900	D	0.478	0.51315	-0.8268	0.53505	T	0.179	0.52489	T	10	0.009160548	0.00207	T	.	.	.	0.168	0.42943	0.533	0.64148	0.826573637083	0.82493	0.710328768850515	0.70974	0.252503775226	0.27817	0.44716706872	0.31557	T	0.416921	0.76972	T	-0.378082	0.03203	T	-0.304834	0.44212	T	0.128825045592809	0.15272	T	0.663934	0.27277	T	0.20672439	0.42856	0.21828784	0.46526	0.18518434	0.39869	0.23475762	0.48700	-13.498	0.91310	D	0.4629729112839392	0.54483	0.384	0.58680	A	.;.	.;.	2.832449	0.37348	20.5	0.99176000961216138	0.54527	0.79549	0.39440	D	AEFDBCI	0.277898	0.39231	N	0.0690820658567355	0.45024	2.766043	0.140912105925916	0.46663	2.90864	0.999998670871226	0.74766	0.542737	0.22433	0	0.59043	0.45803	0	0.547309	0.15389	0	0.638787	0.57140	0	.	.	5.31	4.34	0.51267	0.982000	0.29137	.	.	0.676000	0.76740	0.890000	0.31197	1.000000	0.68203	0.930000	0.46718	0.1509:0.0:0.8491:0.0	6.846	0.23169	715	0.56137	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	946.98	34	chr11	124893896	.	G	C	946.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.335e+00;DP=786;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.93;ReadPosRankSum=-1.430e-01;SOR=0.793	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,101,1191	20	0	1	0
chr11	125038597	125038597	T	C	exonic	CCDC15	.	nonsynonymous SNV	CCDC15:NM_025004:exon14:c.T2578C:p.Y860H,	.	.	442	1076	4	0	0	4	0.00185529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.009	B	0.011	B	.	.	1.000	N	1.445	L	1.41	T	-1.006	T	0.066	T	0.188	1.796	11.96	-1.64	-0.503	-0.378	4.881	0.017	0.00509735738192	.	0.000199681	0.0002	0	0	0	0	0	0	0.0011	5.82e-05	9	154602	rs577531347	3.983e-05	4.036e-05	2.112e-05	5.895e-05	0.0004	3.146e-05	2.827e-05	0.0003	0.0003	0	9.235e-05	0	0	0	0.0004	1.103e-05	8.595e-05	0.0004	3.283e-05	3.281e-05	2.57e-05	4.028e-05	0.0008	1.26e-05	7.97e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.47e-05	0	0.0008	0.023	0.48186	D	0.032	0.53426	D	0.009	0.15093	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	1.41	0.34253	T	-2.05	0.54382	N	0.101	0.09349	-1.0058	0.28216	T	0.066	0.27225	T	9	0.009868711	0.00221	T	0.005097	0.12939	T	0.017	0.02790	0.226	0.15109	0.0482279557977	0.04254	0.13945202244579466	0.13868	0.0189071063277	0.01841	0.296992242336	0.09954	T	0.037496	0.24497	T	-0.459417	0.00991	T	-0.559305	0.16442	T	0.019249812088643	0.00631	T	0.352865	0.20563	T	0.4605496	0.64705	0.28634945	0.54643	0.4605496	0.64706	0.28634945	0.54642	-3.663	0.18773	T	.	.	0.375	0.59319	A	.;.	.;.	1.664173	0.21222	15.10	0.9818263857019579	0.38958	0.02750	0.07434	N	AEFBI	0.049368	0.08522	N	-0.870495372090006	0.11549	0.5579341	-0.905028316472498	0.11975	0.6133392	0.0219314727171202	0.13390	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.0	-1.64	0.07874	-0.267000	0.08648	.	.	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.996000	0.76049	0.1294:0.2722:0.0:0.5983	4.881	0.13037	857	0.34089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1162.98	33	chr11	125038597	.	T	C	1162.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.751;DP=849;ExcessHet=0.0000;FS=1.663;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=1.20;SOR=0.502	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,114,1710	20	0	1	0
chr11	125079203	125079203	T	C	exonic	SLC37A2	.	nonsynonymous SNV	SLC37A2:NM_001145290:exon5:c.T406C:p.Y136H	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.654	P	0.287	B	0.000	D	0.998	D	2.675	M	0.29	T	-0.585	T	0.240	T	0.702	3.710	18.84	4.75	2.000	7.843	14.097	0.261	.	.	0.00199681	0.0010	0	0.0005	0	0	1.498e-05	0.0033	0.0065	0.0008279	128	154602	rs575456106	0.0004	0.0004	0.0002	0.0005	0.0057	0.0003	0.0003	0.0053	0.0051	0	0	0	0	0	0	2.698e-06	0.0004	0.0057	0.0002	0.0002	0.0002	0.0003	0.0068	0.0002	0.0001	0.0050	0.0044	2.405e-05	0	0	0	0	0	0	0	0	0.0068	0.038	0.42783	D	0.102	0.39799	T	0.347	0.40793	B	0.248	0.40572	B	0.000020	0.62929	D	0.073236	0.998487	0.44980	D	.	.	.	0.29	0.58897	T	-2.97	0.63782	D	0.736	0.78737	-0.5853	0.65407	T	0.240	0.60845	T	10	0.012523919	0.00269	T	.	.	.	0.261	0.57352	0.585	0.71245	0.490771696789	0.48710	0.602380012081604	0.60169	0.669621661834	0.59368	0.761583685875	0.76164	T	0.445561	0.78853	T	-0.206766	0.19837	T	-0.0675855	0.65797	T	0.156898796986519	0.17640	T	0.960204	0.85028	D	0.37871772	0.59223	0.3215202	0.58100	0.37871772	0.59224	0.3215202	0.58099	-9.94	0.73552	D	.	.	0.305	0.53371	B	.;.;.	.;.;.	4.272980	0.65030	24.8	0.99734843755483726	0.83047	0.98285	0.81260	D	AEFDGBIJ	0.938453	0.93768	D	0.405304295621671	0.61712	4.376205	0.452794832062227	0.64897	4.755775	0.999999999998005	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.550183	0.17644	0	.	.	4.75	4.75	0.59954	8.017000	0.88732	7.821000	0.69751	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	14.097	0.64557	906	0.23090	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1840.98	33	chr11	125079203	.	T	C	1840.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=859;ExcessHet=0.0000;FS=1.317;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=0.447;SOR=0.843	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr11	125612999	125612999	G	C	exonic	STT3A	.	nonsynonymous SNV	STT3A:NM_001278504:exon12:c.G1100C:p.G367A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99	T	0.001	B	0.004	B	0.000	D	1.000	D	-0.345	N	.	.	-0.948	T	0.131	T	0.851	1.918	12.37	6.17	2.941	7.909	20.490	0.280	0.008836792202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.846	0.03201	T	0.892	0.03380	T	0.0	0.02946	B	0.004	0.10090	B	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.815	0.01551	N	.	.	.	1.26	0.01024	N	0.772	0.77132	-0.9481	0.41296	T	0.131	0.44208	T	9	0.5165927	0.62401	D	0.008837	0.23318	T	0.318	0.64008	0.51	0.60693	0.255117706274	0.25116	0.8207025359332422	0.82027	0.83572146944	0.67812	0.904278516769	0.96900	D	0.039098	0.25071	T	0.284845	0.81728	D	0.171384	0.81493	D	0.885698854923248	0.53605	D	0.938006	0.76748	D	0.4173917	0.61918	0.31930044	0.57892	0.4173917	0.61918	0.31930044	0.57892	-2.926	0.09406	T	0.07998313954784604	0.03991	0.083	0.09094	B	.;.;.;.	.;.;.;.	3.109673	0.41939	21.4	0.90700356389800407	0.19951	0.99844	0.99801	D	AEFGBI	0.972089	0.99399	D	0.265342204560899	0.54402	3.605816	0.447971937770451	0.64586	4.717254	0.999999999999835	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	9.883000	0.98528	11.721000	0.94817	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	20.490	0.99205	521	0.74284	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1596.98	33	chr11	125612999	.	G	C	1596.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.422e+00;DP=802;ExcessHet=0.0000;FS=0.810;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.30;ReadPosRankSum=-8.900e-02;SOR=0.550	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1268	20	0	1	0
chr11	125917088	125917088	G	A	exonic	DDX25	.	nonsynonymous SNV	DDX25:NM_001330438:exon9:c.G533A:p.R178Q	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.992	D	0.000	D	1.000	D	0.38	N	3.55	T	-1.011	T	0.029	T	0.663	3.193	16.69	5.79	2.735	3.670	19.637	0.185	0.00748100021423	7.9e-05	0.000199681	0.0001	0	0	0.0002	0.0002	0.0001	0	0.0002	7.12e-05	11	154602	rs375780207	5.349e-05	5.404e-05	5.181e-05	5.519e-05	0.0007	4.355e-05	4.027e-05	0.0005	0.0004	0	2.258e-05	0	0.0007	0.0002	0	3.151e-05	3.317e-05	1.179e-05	8.537e-05	8.531e-05	6.426e-05	0.0001	0.0008	4.954e-05	3.96e-05	0.0003	0.0002	2.406e-05	0	0	0	0.0008	0	0.0034	8.82e-05	0	0.0002	0.184	0.21634	T	0.324	0.20877	T	1.0	0.90584	D	0.992	0.80445	D	0.000240	0.47286	D	0.092334	0.999831	0.49637	D	0.625	0.15840	N	3.55	0.04746	T	-0.49	0.15578	N	0.208	0.23125	-1.0112	0.26541	T	0.029	0.12365	T	10	0.11205399	0.21004	T	0.007481	0.19846	T	0.185	0.45933	.	.	0.49741755877	0.49376	0.42170353039472497	0.42086	0.246208666148	0.27154	0.449881732464	0.31927	T	0.13072	0.45978	T	-0.264617	0.12364	T	-0.324393	0.42091	T	0.131072959694245	0.15481	T	0.938406	0.76842	D	0.07606169	0.17176	0.091232	0.21439	0.07606169	0.17176	0.091232	0.21438	-5.862	0.48341	T	.	.	0.112	0.21877	B	.;.;.	.;.;.	3.636922	0.51552	23.1	0.9928537753336778	0.58078	0.94319	0.60787	D	AEFDGBI	0.683373	0.64608	D	0.546283431786935	0.69855	5.416849	0.599924396788693	0.74934	6.222509	0.999999999808445	0.74766	0.706548	0.73137	0	0.563428	0.19063	0	0.724815	0.87919	0	0.530356	0.10902	0	.	.	5.79	5.79	0.91751	3.753000	0.54896	7.523000	0.59793	0.676000	0.76740	0.992000	0.37556	1.000000	0.68203	0.967000	0.53440	0.0:0.0:1.0:0.0	19.637	0.95731	821	0.40814	.;Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1326.98	34	chr11	125917088	.	G	A	1326.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.784;DP=820;ExcessHet=0.0000;FS=4.375;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=0.764;SOR=1.145	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1229	20	0	1	0
chr11	125947997	125947997	C	T	exonic	VSIG10L2	.	nonsynonymous SNV	VSIG10L2:NM_001365077:exon2:c.C394T:p.L132F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.26e-07	2.052e-06	0	1.961e-06	.	0	0	.	.	0	0	0	0	4.645e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12894607	0.24532	T	.	.	.	.	.	.	.	.	.	0.08907799151004708	0.08840	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.405359	0.10397	T	0.056302942	0.11059	0.10900517	0.26266	0.056302942	0.11059	0.10900517	0.26266	-7.642	0.58604	D	.	.	0.155	0.34205	B	.	.	2.222991	0.28372	17.77	0.79420649046938685	0.12734	0.20357	0.21011	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.54548298063999	0.21289	0.056701	0.00814	0	0.063388	0.01293	0	0.074216	0.02223	0	0.062806	0.01542	0	0.220297	0.31340	5.0	1.79	0.23992	0.746000	0.25942	1.960000	0.29933	0.599000	0.40250	0.015000	0.19116	1.000000	0.68203	0.075000	0.16954	0.4123:0.4429:0.1448:0.0	8.517	0.32414	843	0.36859	Immunoglobulin subtype	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	31.21	2	chr11	125947997	.	C	T	31.21	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-9.670e-01;DP=66;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1456;MLEAC=2;MLEAF=0.067;MQ=60.00;MQRankSum=0.00;QD=10.40;ReadPosRankSum=0.00;SOR=0.223	GT:AD:DP:GQ:PL	./.	14	0	1	6
chr11	125950256	125950256	C	T	exonic	VSIG10L2	.	nonsynonymous SNV	VSIG10L2:NM_001365077:exon4:c.C952T:p.R318C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs962844635	1.389e-05	1.368e-05	8.77e-06	1.961e-05	5.13e-05	8.34e-06	6.61e-06	6.95e-06	5.49e-06	4.353e-05	0	0	0	0	0	1.304e-05	2.289e-05	5.13e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46354735	0.59431	T	.	.	.	.	.	.	.	.	.	0.23885046785574776	0.23799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.665633	0.27494	T	0.1097651	0.25948	0.11495933	0.27750	0.1097651	0.25948	0.11495933	0.27749	-7.056	0.54442	T	.	.	0.168	0.37044	B	.	.	2.945790	0.39182	20.9	0.73548254506793054	0.10368	0.96979	0.71994	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999751727973496	0.42595	0.056701	0.00814	0	0.063388	0.01293	0	0.074216	0.02223	0	0.062806	0.01542	0	0.764818	0.45325	4.44	2.51	0.29435	4.929000	0.63156	1.060000	0.23712	-0.202000	0.08738	1.000000	0.71638	0.000000	0.08366	0.645000	0.32557	0.1483:0.7722:0.0:0.0795	8.874	0.34490	843	0.36859	Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	30.58	83	chr11	125950256	.	C	T	30.58	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-9.670e-01;DP=83;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1020;MLEAC=2;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.19;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	./.	13	0	1	7
chr11	125954167	125954167	A	G	exonic	VSIG10L2	.	nonsynonymous SNV	VSIG10L2:NM_001365077:exon8:c.A1867G:p.I623V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07472432	0.11458	T	.	.	.	.	.	.	.	.	.	0.03791757942230676	0.03737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.366163	0.09624	T	0.021468854	0.00751	0.11312661	0.27300	0.021468854	0.00751	0.11312661	0.27300	1.087	0.00121	T	.	.	0.075	0.16231	B	.;.	.;.	-1.573617	0.00254	0.004	0.426788042968752	0.03162	0.01131	0.04113	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999992173191213	0.74766	0.053691	0.00478	0	0.063388	0.01293	0	0.059349	0.00372	0	0.062806	0.01542	0	0.165202	0.28512	4.22	-6.87	0.01511	-0.544000	0.06166	-0.562000	0.08472	-0.274000	0.06627	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.4752:0.2236:0.3012:0.0	6.284	0.20229	858	0.34001	Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	30.61	2	chr11	125954167	.	A	G	30.61	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-9.670e-01;DP=72;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0973;MLEAC=2;MLEAF=0.063;MQ=60.00;MQRankSum=0.00;QD=10.20;ReadPosRankSum=0.00;SOR=0.223	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,49	15	0	1	5
chr11	126001826	126001826	G	C	exonic	CDON	.	nonsynonymous SNV	CDON:NM_001243597:exon11:c.C2051G:p.T684S	Holoprosencephaly 11, Autosomal dominant, Isolated cases	.	0	1515	7	0	0	7	0.00230491	.	.	326403	Holoprosencephaly_11|CDON-related_disorder|not_provided	MONDO:MONDO:0013642,MedGen:C3280215,OMIM:614226,Orphanet:2162|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.19	T	0.576	P	0.234	B	0.010	N	0.994	D	0.975	L	0.25	T	-0.799	T	0.172	T	0.187	2.324	13.73	5.78	2.894	4.745	20.367	0.136	.	0.0068	0.00179712	0.0068	0.0017	0.0023	0	0.0192	0.0089	0.0077	0.0031	0.0066235	1024	154602	rs145983470	0.0078	0.0079	0.0079	0.0078	0.0083	0.0077	0.0077	0.0081	0.0081	0.0010	0.0022	0.0121	0	0.0207	0.0026	0.0083	0.0070	0.0030	0.0060	0.0061	0.0057	0.0064	0.0081	0.0057	0.0056	0.0076	0.0073	0.0012	0.0033	0.0037	0.0130	0.0002	0.0177	0	0.0081	0.0057	0.0029	0.043	0.41364	D	0.307	0.19908	T	0.44	0.38723	B	0.118	0.38393	B	0.009752	0.30218	N	0.231330	0.989675	0.42042	D	1.745	0.45235	L	-0.36	0.68892	T	-0.85	0.28290	N	0.142	0.21839	-0.7994	0.55179	T	0.172	0.51357	T	10	0.008403778	0.00191	T	.	.	.	0.136	0.36778	0.193	0.10437	0.790592333802	0.78865	0.1986246840339425	0.19779	0.0929520975602	0.10498	0.40309292078	0.25499	T	0.278137	0.65078	T	-0.410333	0.01977	T	-0.351804	0.38998	T	0.0136248327535857	0.00252	T	0.562644	0.19782	T	0.11263977	0.26609	0.116664514	0.28163	0.11088617	0.26206	0.11224066	0.27079	-2.398	0.05207	T	0.17843210639092488	0.22868	0.111	0.29860	B	.;.;.	.;.;.	1.994872	0.25342	16.73	0.98568010399147765	0.43063	0.97944	0.78319	D	AEFBI	0.568045	0.57339	D	0.10610886230278	0.46746	2.910418	0.252453809694907	0.52788	3.451401	0.999994851408151	0.74766	0.651	0.46895	0	0.588066	0.40923	0	0.65145	0.50148	0	0.664235	0.64389	0	.	.	5.78	5.78	0.91418	5.219000	0.65094	4.547000	0.43788	0.676000	0.76740	1.000000	0.71638	0.981000	0.30433	0.528000	0.29660	0.0:0.0:1.0:0.0	20.367	0.98884	876	0.30350	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	2538.08	35	chr11	126001826	.	G	C	2538.08	.	AC=2;AF=0.048;AN=42;DP=950;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.95;SOR=1.151	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1095	20	1	0	0
chr11	126267174	126267174	C	T	splicing	SRPRA	NM_001177842:exon3:c.442+1G>A;NM_003139:exon4:c.526+1G>A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.053	16.19	4.92	2.546	7.567	18.315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.442e-06	6.896e-06	1.441e-06	1.444e-06	.	2.4e-07	9e-08	.	.	0	0	0	0	0	0	0	3.458e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.310434	0.83778	D	0.208141	0.83568	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.965066	0.82122	27.7	0.99194026174643468	0.55083	0.97098	0.72678	D	AEFGBHCI	.	.	.	1.03996377570364	0.96847	15.22591	0.865788061174193	0.93904	12.36264	1.0	0.98316	0.12189	0.03102	0	0.194	0.04241	0	0.17184	0.04098	0	0.119812	0.03901	0	0.982774	0.89207	4.92	4.92	0.64147	7.641000	0.82513	7.588000	0.61163	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.702000	0.34203	0.0:1.0:0.0:0.0	18.315	0.90157	804	0.43891	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	31.98	41	chr11	126267174	.	C	T	31.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.021e+00;DP=950;ExcessHet=0.0000;FS=98.721;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.21;ReadPosRankSum=0.911;SOR=6.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,109,1552	20	0	1	0
chr11	126304167	126304167	G	T	exonic	DCPS	.	nonsynonymous SNV	DCPS:NM_001350236:exon1:c.G87T:p.E29D	Al-Raqad syndrome, Autosomal recessive	.	422	1091	9	0	0	9	0.00410771	.	.	491743	not_specified|not_provided|Inborn_genetic_diseases	MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.52	T	0.0	B	0.001	B	0.071	N	1.000	N	0	N	0.87	T	-1.037	T	0.039	T	0.097	2.243	13.46	-0.628	-0.117	0.184	4.426	0.024	0.00343633897818	0.0006	0.000399361	0.0006	0.0002	0.0006	0	0.0002	0.0009	0.0011	0	0.0005951	92	154602	rs147935593	0.0005	0.0005	0.0005	0.0005	0.0127	0.0005	0.0005	0.0103	0.0095	0.0004	0.0012	0.0040	0	1.872e-05	0.0127	0.0003	0.0011	0.0002	0.0007	0.0007	0.0006	0.0007	0.0014	0.0006	0.0005	0.0009	0.0008	0.0001	0	0.0014	0.0032	0	9.409e-05	0.0476	0.0006	0.0019	0.0002	0.286	0.15201	T	0.426	0.13872	T	0.0	0.02946	B	0.001	0.04355	B	0.070621	0.21526	N	0.499898	1	0.08975	N	0.41	0.12415	N	0.87	0.46412	T	-0.35	0.12847	N	0.051	0.02272	-1.0371	0.18202	T	0.039	0.16634	T	10	0.0046408176	0.00097	T	0.003436	0.07725	T	0.024	0.04979	0.457	0.52265	0.221019684889	0.21715	0.21637322015232252	0.21553	0.102527254656	0.11603	0.314933896065	0.12653	T	0.084563	0.37306	T	-0.583882	0.00183	T	-0.674862	0.07300	T	0.013055772971971	0.00228	T	0.482752	0.14626	T	0.06485345	0.13802	0.054698765	0.09458	0.06485345	0.13802	0.054698765	0.09457	-4.446	0.30176	T	.	.	0.081	0.08320	B	.	.	0.389970	0.07614	4.278	0.96148960953400253	0.28859	0.08134	0.14100	N	ALL	0.038232	0.05380	N	-1.35025201991848	0.03122	0.1389655	-1.32053767275239	0.04165	0.1958882	0.999999999956972	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.77	-0.628	0.10958	0.593000	0.23700	0.456000	0.18569	-0.272000	0.06708	0.003000	0.16062	0.000000	0.08366	0.002000	0.04165	0.414:0.3216:0.2643:0.0	4.426	0.10928	872	0.31118	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2077.08	33	chr11	126304167	.	G	T	2077.08	.	AC=2;AF=0.048;AN=42;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.47;SOR=0.957	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	1	0	0
chr11	128839231	128839231	A	G	exonic	KCNJ1	.	nonsynonymous SNV	KCNJ1:NM_000220:exon2:c.T1070C:p.M357T	Bartter syndrome, type 2, Autosomal recessive	.	0	1517	5	0	0	5	0.00164528	.	.	24197	not_specified|not_provided|Bartter_disease_type_2|KCNJ1-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009424,MedGen:C1855849,OMIM:241200,Orphanet:112,Orphanet:620220|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.004	B	0.041	B	0.013	N	0.982	N	0.695	N	-3.23	D	-0.126	T	0.590	D	0.22	0.785	8.138	5.9	2.254	4.870	16.325	0.392	.	0.0068	0.00279553	0.0080	0.0021	0.0028	0	0.0086	0.0120	0.0088	0.0033	0.0078912	1220	154602	rs59172778	0.0099	0.0099	0.0102	0.0096	0.0117	0.0098	0.0097	0.0115	0.0114	0.0022	0.0038	0.0031	0	0.0084	0.0026	0.0117	0.0078	0.0032	0.0077	0.0077	0.0077	0.0076	0.0120	0.0073	0.0072	0.0113	0.0111	0.0026	0	0.0073	0.0040	0.0002	0.0074	0.0034	0.0120	0.0052	0.0054	0.389	0.10874	T	0.39	0.15506	T	0.004	0.12183	B	0.041	0.23986	B	0.012803	0.29047	N	0.432611	0.0178426	0.24985	A	0.695	0.17993	N	-3.23	0.93414	D	0.04	0.08495	N	0.565	0.71321	-0.1259	0.79497	T	0.590	0.85303	D	10	0.016446412	0.00347	T	.	.	.	0.392	0.70764	.	.	0.817938731251	0.81622	0.42908245002016493	0.42825	0.0391560762473	0.04173	0.434037923813	0.29761	T	0.570773	0.85784	D	-0.320139	0.06886	T	-0.222246	0.52520	T	0.0256024933013323	0.01352	T	0.706929	0.31753	T	0.21849048	0.44358	0.17731526	0.40325	0.18652745	0.40064	0.20408967	0.44515	-2.572	0.07228	T	0.09446305846002974	0.06325	0.099	0.21239	B	.;.;.;.;.	.;.;.;.;.	2.493598	0.32177	18.96	0.86347416939235933	0.16475	0.91963	0.54643	D	AEFDBIJ	0.540115	0.55681	D	-0.00157175943958443	0.41784	2.505552	0.215218666096843	0.50692	3.258576	0.999999424974439	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.9	5.9	0.94952	4.849000	0.62580	9.433000	0.80807	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.325	0.82802	419	0.81524	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1456.98	115	chr11	128839231	.	A	G	1456.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.240e-01;DP=842;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=-1.532e+00;SOR=0.689	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1051	20	0	1	0
chr11	128911903	128911903	G	A	exonic	KCNJ5	.	nonsynonymous SNV	KCNJ5:NM_000890:exon2:c.G630A:p.M210I	Hyperaldosteronism, familial, type III, Autosomal dominant;Long QT syndrome 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	398090	Long_QT_syndrome|Cardiovascular_phenotype|KCNJ5-related_disorder|not_provided	MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN230736|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.0	B	0.001	B	0.001	N	0.829	D	1.365	L	-3.27	D	0.107	D	0.655	D	0.216	2.480	14.25	3.55	0.635	3.558	8.968	0.257	0.0439209214881	7.7e-05	.	0.0002	9.63e-05	0.0003	0	0	0.0002	0	0	0.0001552	24	154602	rs138295501	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	3.007e-05	0.0004	0	2.529e-05	7.505e-05	0.0002	0.0003	0.0001	0	0.0002	0.0002	0.0002	9.415e-05	0.0003	0.0001	8.72e-05	0.0002	0.0001	0	0	0.0001	0	0	0.0002	0	0.0003	0.0005	0	0.049	0.39820	D	0.328	0.18675	T	0.0	0.02946	B	0.001	0.04355	B	0.001073	0.40389	N	0.335648	0.829307	0.34893	D	1.87	0.49600	L	-3.27	0.93640	D	-1.33	0.33197	N	0.143	0.15749	0.107	0.84299	D	0.655	0.87996	D	10	0.30572316	0.48087	T	0.043921	0.61232	D	0.257	0.56827	0.335	0.32329	0.893781738591	0.89273	0.6676337146101283	0.66701	0.454560597318	0.45146	0.473201572895	0.35120	T	0.752302	0.93222	D	-0.209399	0.19463	T	-0.222407	0.52505	T	0.084808121546178	0.10591	T	0.827217	0.49094	T	0.26455805	0.49523	0.26899308	0.52775	0.24216089	0.47140	0.25116685	0.50721	-4.195	0.26679	T	0.2477488827798661	0.33548	0.198	0.44148	B	.;.;.	.;.;.	2.662045	0.34679	19.69	0.98244750650111856	0.39512	0.93545	0.58509	D	AEFDBI	0.477668	0.52056	N	-0.176409682515904	0.34119	1.943622	-0.0278317245449377	0.38462	2.266445	0.923051323216169	0.26730	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.46	3.55	0.39770	3.654000	0.54193	6.629000	0.56146	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0691:0.0:0.664:0.267	8.968	0.35048	417	0.81662	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	868.98	138	chr11	128911903	.	G	A	868.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.130e-01;DP=2841;ExcessHet=0.0000;FS=3.310;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.97;ReadPosRankSum=0.378;SOR=0.897	GT:AD:DP:GQ:PL	0/0:135,0:135:99:0,120,1800	20	0	1	0
chr11	128972571	128972571	C	T	exonic	ARHGAP32	.	nonsynonymous SNV	ARHGAP32:NM_014715:exon12:c.G2846A:p.R949H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.994	D	0.754	P	0.000	D	1.000	D	2.075	M	2.95	T	-1.008	T	0.056	T	0.406	3.892	19.78	5.56	2.633	1.124	12.074	0.086	0.00861612622329	0.0004	.	0.0002	0	0	0.0002	0	0.0002	0	0.0002	0.0001229	19	154602	rs148138101	0.0001	0.0001	0.0001	0.0001	0.0004	0.0001	0.0001	7.106e-05	6.595e-05	0	6.825e-05	0.0028	7.584e-05	0	0.0004	8.524e-05	0.0003	9.679e-05	0.0002	0.0002	0.0003	0.0002	0.0017	0.0002	0.0002	0.0009	0.0007	2.408e-05	0	0.0001	0.0032	0.0017	0	0	0.0002	0.0009	0	0.001	0.78490	D	0.165	0.31936	T	0.994	0.66517	D	0.754	0.56161	P	0.000156	0.49130	D	0.143957	0.618123	0.81001	D	2.135	0.59519	M	2.95	0.09635	T	-1.05	0.27463	N	0.202	0.29081	-1.0083	0.27448	T	0.056	0.23677	T	10	0.01007238	0.00225	T	0.008616	0.22779	T	0.086	0.25016	.	.	0.15499578495	0.15088	0.41525562909624586	0.41441	0.153038685903	0.17271	0.404854297638	0.25743	T	0.163044	0.50795	T	-0.355182	0.04410	T	-0.403032	0.33033	T	0.0764322876930237	0.09524	T	0.787021	0.42574	T	0.13356152	0.31062	0.07738965	0.17236	0.13356152	0.31062	0.07738965	0.17236	-5.326	0.41340	T	.	.	0.083	0.12938	B	.;.;.	.;.;.	3.364917	0.46475	22.3	0.99950261409443564	0.99938	0.80047	0.39791	D	AEFBI	0.144696	0.26772	N	0.478820445082821	0.65855	4.875218	0.447226568980596	0.64537	4.711343	0.994376031605056	0.33608	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.56	5.56	0.83678	1.159000	0.31360	3.376000	0.37968	0.599000	0.40250	0.755000	0.29187	0.998000	0.33993	0.715000	0.34611	0.0:0.9211:0.0:0.0789	12.074	0.52928	557	0.71576	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1029.98	34	chr11	128972571	.	C	T	1029.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.560e-01;DP=771;ExcessHet=0.0000;FS=1.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=0.246;SOR=0.509	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1099	20	0	1	0
chr11	129886366	129886366	T	C	exonic	NFRKB	.	nonsynonymous SNV	NFRKB:NM_006165:exon3:c.A455G:p.Q152R	.	.	430	1081	11	0	0	11	0.00506213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.991	D	0.805	P	0.000	D	1.000	D	0.665	N	.	.	-0.914	T	0.172	T	0.621	2.204	13.33	5.29	1.992	5.739	15.241	0.128	0.00246166338989	0.0008	0.000199681	0.0007	9.656e-05	0.0006	0	0.0002	0.0008	0.0044	0.0007	0.0006145	95	154602	rs141499613	0.0009	0.0009	0.0009	0.0009	0.0014	0.0009	0.0009	0.0010	0.0010	2.987e-05	0.0006	3.826e-05	0	9.362e-05	0.0014	0.0010	0.0008	0.0012	0.0007	0.0007	0.0007	0.0006	0.0012	0.0006	0.0005	0.0010	0.0009	0.0002	0	0.0005	0	0	0	0	0.0012	0.0005	0.0006	0.086	0.33585	T	0.042	0.50226	D	0.985	0.64070	D	0.643	0.58399	P	0.000121	0.50451	D	0.145138	0.999426	0.49394	D	1.04	0.26193	L	.	.	.	-1.99	0.50502	N	0.596	0.61511	-0.9142	0.46325	T	0.172	0.51468	T	9	0.04736355	0.04044	T	0.002462	0.04868	T	0.128	0.35103	.	.	0.288221626996	0.28429	0.5771189635324554	0.57640	0.124722338032	0.14047	0.59449493885	0.52128	T	0.096659	0.39870	T	-0.238408	0.15552	T	-0.165674	0.57838	T	0.0497976845081721	0.05466	T	0.90231	0.66975	D	0.4736088	0.65511	0.3048229	0.56510	0.4736088	0.65512	0.3048229	0.56509	-4.417	0.29786	T	.	.	0.398	0.63385	A	.;.;.;.;.;.	.;.;.;.;.;.	3.878493	0.56357	23.7	0.96644775879245592	0.30567	0.96800	0.71007	D	AEFBI	0.687820	0.64903	D	0.382600701871641	0.60479	4.237273	0.446991755329898	0.64523	4.709517	0.917039442134377	0.26530	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.29	5.29	0.74430	5.717000	0.68096	7.873000	0.72068	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.241	0.73168	835	0.38313	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	755.98	84	chr11	129886366	.	T	C	755.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.315;DP=773;ExcessHet=0.0000;FS=1.780;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.00;ReadPosRankSum=-1.400e-02;SOR=0.837	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1173	20	0	1	0
chr11	129910541	129910541	T	G	exonic	PRDM10	.	nonsynonymous SNV	PRDM10:NM_199439:exon14:c.A2699C:p.Q900P	.	.	426	1081	15	0	0	15	0.00689022	.	.	2810023	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.396	B	0.099	B	0.092	N	0.734	N	0.695	N	2.91	T	-1.042	T	0.014	T	0.276	0.486	6.638	1.21	-0.004	2.219	7.513	0.019	0.00596931075526	0.0032	0.00199681	0.0029	0.0005	0.0012	0	0.0005	0.0044	0.0022	0.0021	0.0027425	424	154602	rs141740226	0.0032	0.0032	0.0032	0.0032	0.0109	0.0031	0.0031	0.0088	0.0080	0.0009	0.0020	0.0167	2.52e-05	0.0003	0.0109	0.0033	0.0038	0.0023	0.0022	0.0022	0.0022	0.0021	0.0031	0.0020	0.0019	0.0027	0.0026	0.0005	0	0.0018	0.0161	0	0.0004	0.0068	0.0031	0.0043	0.0006	0.038	0.42783	D	0.074	0.54159	T	0.0	0.07471	B	0.0	0.04355	B	0.091753	0.20309	N	0.493708	0.73427	0.33752	D	.	.	.	2.82	0.11730	T	-0.78	0.21644	N	0.314	0.42541	-1.0421	0.16681	T	0.014	0.05608	T	10	0.00473091	0.00100	T	0.005969	0.15579	T	0.019	0.03383	.	.	0.0675242888579	0.06100	0.42662894743604407	0.42579	0.124582783249	0.14036	0.408897936344	0.26304	T	.	.	.	-0.477599	0.00764	T	-0.461865	0.26397	T	0.0368363451973109	0.03126	T	0.692831	0.31953	T	.	.	.	.	.	.	.	.	-5.186	0.39546	T	.	.	0.066	0.10014	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.530675	0.19640	14.36	0.95152553367378334	0.26288	0.93304	0.57859	D	AEFDBI	0.614196	0.60160	D	-0.693359907043692	0.16210	0.8238372	-0.620561445937764	0.18965	1.015487	0.0132424540917667	0.12437	0.372202	0.05800	0	0.546412	0.12157	0	0.0	0.00061	3	0.491896	0.07777	0	.	.	2.46	1.21	0.20240	1.834000	0.38811	3.274000	0.37181	0.474000	0.21982	1.000000	0.71638	1.000000	0.68203	0.903000	0.43903	0.0:0.0:0.4354:0.5646	7.513	0.26752	856	0.34373	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1030.98	102	chr11	129910541	.	T	G	1030.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.719e+00;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.11;ReadPosRankSum=-1.467e+00;SOR=0.702	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1250	20	0	1	0
chr11	129918644	129918644	G	C	exonic	PRDM10	.	nonsynonymous SNV	PRDM10:NM_001367898:exon10:c.C1851G:p.I617M	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.956	P	0.66	P	0.000	D	0.829	D	0.69	N	2.92	T	-1.025	T	0.027	T	0.345	3.392	17.45	4.86	1.408	3.010	6.133	0.056	0.00682036870865	.	0.000199681	0.0003	0	0	0	0	1.499e-05	0	0.0019	0.0002199	34	154602	rs545610604	0.0001	0.0001	6.942e-05	0.0002	0.0022	0.0001	0.0001	0.0020	0.0019	0	0	0	0	0	0	8.993e-07	6.623e-05	0.0022	7.221e-05	7.217e-05	5.139e-05	9.397e-05	0.0023	3.968e-05	3.125e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.024	0.50132	D	0.1	0.39190	T	0.956	0.54666	P	0.66	0.52803	P	0.000079	0.52346	D	0.167749	0.828569	0.34883	D	0.55	0.14455	N	2.84	0.10771	T	-0.48	0.15379	N	0.446	0.56748	-1.0246	0.22214	T	0.027	0.11441	T	10	0.014993727	0.00315	T	0.00682	0.18037	T	0.056	0.15993	0.198	0.11110	0.128874641272	0.12493	0.5215638976136808	0.52079	1.01612100835	0.74962	0.629750967026	0.57109	T	.	.	.	-0.492829	0.00627	T	-0.487167	0.23687	T	0.0912060352355885	0.11360	T	0.940006	0.77758	D	.	.	.	.	.	.	.	.	-7.559	0.58827	D	.	.	0.099	0.16843	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.015484	0.59269	24.1	0.99515426652607564	0.68919	0.92832	0.56655	D	AEFDBI	0.462896	0.51204	N	0.0882935490702578	0.45917	2.840347	0.220377110578523	0.50980	3.284524	0.468953013784989	0.20690	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.79	4.86	0.62624	3.092000	0.49904	4.432000	0.43354	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0708:0.1356:0.653:0.1406	6.133	0.19432	825	0.40060	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1397.98	33	chr11	129918644	.	G	C	1397.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.015e+00;DP=805;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=0.415;SOR=0.671	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1303	20	0	1	0
chr11	130121740	130121745	GAAGAG	-	exonic	APLP2	.	nonframeshift deletion	APLP2:NM_001382542:exon3:c.175_180del:p.E62_E63del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0003	0.0005	0.0001	0.0009	0.0002	0.0011	0.0005	3.84e-05	1	26028	rs760211992	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0001	0.0002	0.0001	0.0002	0.0002	3.826e-05	0.0002	0.0008	0.0007	0.0001	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	9.014e-05	0.0002	0	0.0003	0	0.0002	0.0004	0	0.0001	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2789.94	33	chr11	130121739	.	AGAAGAG	A	2789.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.672;DP=842;ExcessHet=0.0000;FS=0.638;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.51;ReadPosRankSum=-7.920e-01;SOR=0.793	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1246	20	0	1	0
chr11	130428225	130428225	-	GCA	exonic	ADAMTS8	.	nonframeshift insertion	ADAMTS8:NM_007037:exon1:c.61_62insTGC:p.L21_P22insL,	.	.	0	41	77	64	44	249	0.714286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	8760.77	19	chr11	130428222	.	GGCA	G,GGCAGCA	8760.77	.	AC=21,6;AF=0.500,0.143;AN=42;BaseQRankSum=0.204;DP=554;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=21,6;MLEAF=0.500,0.143;MQ=60.00;MQRankSum=0.00;QD=28.54;ReadPosRankSum=0.132;SOR=0.702	GT:AD:DP:GQ:PL	1/1:0,10,0:10:30:450,30,0,450,30,450	3	7	5	0
chr11	130915438	130915438	T	-	exonic	SNX19	.	frameshift deletion	SNX19:NM_001347918:exon1:c.502delA:p.S168Afs*49	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2017.94	39	chr11	130915437	.	CT	C	2017.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.776e+00;DP=908;ExcessHet=0.0000;FS=2.359;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.40;ReadPosRankSum=0.199;SOR=0.506	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr11	134253603	134253603	G	T	exonic	ACAD8	.	startloss	ACAD8:NM_014384:exon1:c.G3T:p.M1?,	Isobutyryl-CoA dehydrogenase deficiency	YES	.	.	.	.	.	.	.	.	.	421837	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	0	D	0.049	B	0.016	B	0.034	N	1.000	D	.	.	-4.01	D	0.563	D	0.832	D	0.79	3.733	18.96	5.61	2.645	1.795	12.590	0.491	0.994181855931	.	.	8.104e-05	0	0.0008	0.0008	0	0	0	0	1.29e-05	2	154602	rs751940610	8.382e-06	1.368e-05	9.701e-06	7.042e-06	0.0002	4.47e-06	3.53e-06	0.0001	7.575e-05	0	2.432e-05	0	0.0002	0	0	9.096e-07	1.687e-05	1.207e-05	1.313e-05	1.312e-05	2.57e-05	0	0.0004	2.18e-06	8.2e-07	6.86e-05	2.869e-05	0	0	0	0	0.0004	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.02	0.18235	B	0.011	0.15521	B	0.033664	0.24868	N	0.457306	1	0.81001	D	.	.	.	-4.4	0.97419	D	-0.58	0.17417	N	0.767	0.76481	0.563	0.91412	D	0.832	0.94366	D	9	0.98450315	0.98649	D	0.994182	0.99984	D	0.491	0.77783	0.986	0.99859	0.943284361215	0.94269	0.6206535551178631	0.61998	.	.	.	.	.	0.298382	0.67095	T	0.45214	0.92578	D	0.66	0.99401	D	0.995510816574097	0.87564	D	0.9	0.65058	D	0.95435405	0.96708	0.89949656	0.94940	0.95435405	0.96709	0.89949656	0.94940	-9.867	0.73112	D	.	.	.	.	.	.;.	.;.	2.510174	0.32421	19.04	0.9870771449045872	0.45011	0.34532	0.25090	N	AEFGBHCIJ	0.022632	0.01157	N	-0.417388833971235	0.24859	1.345315	-0.396569910620965	0.25098	1.378	0.999999999999998	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	5.61	5.61	0.85347	4.122000	0.57661	4.405000	0.43261	0.676000	0.76740	0.648000	0.28154	1.000000	0.68203	0.003000	0.05239	0.0771:0.0:0.9229:0.0	12.590	0.55791	846	0.36215	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	441.98	34	chr11	134253603	.	G	T	441.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.646;DP=728;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=-2.590e-01;SOR=0.914	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr11	134345283	134345283	G	C	exonic	GLB1L2	.	nonsynonymous SNV	GLB1L2:NM_001370463:exon5:c.G465C:p.Q155H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	445.98	18	chr11	134345283	.	G	C	445.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.44;DP=423;ExcessHet=0.0000;FS=8.316;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.30;ReadPosRankSum=-3.860e-01;SOR=3.467	GT:AD:DP:GQ:PL	0/0:22,0:22:53:0,53,778	20	0	1	0
chr11	134359968	134359968	G	A	exonic	GLB1L2	.	nonsynonymous SNV	GLB1L2:NM_001370460:exon8:c.G842A:p.R281H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1013960059	0	3.181e-06	0	0	.	0	0	.	.	0	.	.	0	0	.	0	0	0	6.569e-06	6.567e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	63.78	5	chr11	134359968	.	G	A	63.78	.	AC=1;AF=0.036;AN=28;BaseQRankSum=0.00;DP=74;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0550;MLEAC=2;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=21.26;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	./.	13	0	1	7
chr11	134368709	134368709	G	A	exonic	GLB1L2	.	nonsynonymous SNV	GLB1L2:NM_001370461:exon10:c.G955A:p.G319R	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	4.19	H	-7.03	D	0.186	D	0.302	T	0.995	4.870	27.9	5.19	2.408	9.048	17.481	0.868	.	0.0009	0.00599042	0.0053	0.0009	0.0534	0.0003	0	0.0001	0.0044	0.0001	0.0049094	759	154602	rs138130138	0.0016	0.0016	0.0019	0.0014	0.0484	0.0016	0.0016	0.0467	0.0460	0.0004	0.0484	3.826e-05	0.0006	0	0.0010	7.464e-05	0.0017	0.0002	0.0048	0.0048	0.0039	0.0057	0.0431	0.0045	0.0044	0.0404	0.0393	0.0010	0	0.0431	0	0.0006	0	0	0.0002	0.0038	0.0006	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	D	0.055211	1	0.81001	D	4.52	0.99038	H	-7.03	0.99831	D	-7.85	0.96058	D	0.993	0.99863	0.186	0.85665	D	0.302	0.67316	T	10	0.024201661	0.00658	T	.	.	.	0.956	0.99253	0.963	0.99627	0.566010919861	0.56265	0.991033348956113	0.99098	0.73479778726	0.62922	0.673351407051	0.63315	T	0.877078	0.97393	D	0.231269	0.76841	D	0.59667	0.96961	D	0.197528954302392	0.20279	T	0.977602	0.92086	D	0.90058076	0.91434	0.8587813	0.92096	0.90058076	0.91436	0.8587813	0.92096	-10.268	0.75501	D	.	.	0.953	0.87237	P	.;.	.;.	6.525936	0.95351	34	0.99933767164601028	0.99488	0.98815	0.87215	D	AEFGBI	0.895117	0.83480	D	0.688989780491311	0.78910	6.967893	0.640589383254785	0.77913	6.771531	0.999999998746674	0.74766	0.634777	0.41761	0	0.588015	0.36545	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	5.19	5.19	0.71428	9.604000	0.97770	9.857000	0.82030	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	17.481	0.87567	976	0.04745	Glycoside hydrolase 35, catalytic domain;Glycoside hydrolase 35, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1930.98	39	chr11	134368709	.	G	A	1930.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.162;DP=895;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=-5.130e-01;SOR=0.729	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr12	67121	67121	C	T	exonic	IQSEC3	.	nonsynonymous SNV	IQSEC3:NM_001170738:exon1:c.C239T:p.P80L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	.	.	.	.	0.153	U	1.000	N	0	N	1.24	T	-1.071	T	0.036	T	0.134	-1.389	0.024	-1.51	-0.175	2.749	0.853	0.100	0.279117496769	.	.	0.0006	0	0	0	0	0	0	0.0008	.	.	.	.	5.193e-05	6.704e-05	3.174e-05	7.268e-05	0.0008	4.197e-05	3.854e-05	0.0007	0.0006	0	0	0	2.875e-05	0	0.0002	9.325e-07	5.257e-05	0.0008	1.313e-05	3.281e-05	0	2.686e-05	0.0004	2.18e-06	8.2e-07	7.293e-05	3.03e-05	0	0	0	0	0	0	0	0	0	0.0004	0.139	0.25768	T	0.725	0.05256	T	.	.	.	.	.	.	0.152508	0.02973	U	2.367380	1	0.08975	N	0	0.06538	N	1.24	0.36691	T	-1.03	0.27052	N	0.084	0.06059	-1.0706	0.09282	T	0.036	0.15422	T	8	0.059284985	0.07101	T	0.279117	0.90166	D	0.100	0.28662	0.339	0.32979	0.221890330934	0.21812	0.42094689467717294	0.42010	1.75945580792	0.91105	0.763321459293	0.76424	T	0.014399	0.12263	T	-0.533015	0.00369	T	-0.644834	0.09320	T	0.0379923665664958	0.03331	T	0.517048	0.16713	T	0.036408205	0.04471	0.051362526	0.08250	0.036408205	0.04471	0.051362526	0.08250	-5.416	0.41073	T	.	.	0.102	0.17869	B	.	.	1.049236	0.14305	10.88	0.77533228823364775	0.11916	0.03549	0.08749	N	AEFDGBHCI	0.147746	0.27148	N	-1.02404388299492	0.08107	0.3789644	-1.08717868525617	0.07952	0.3889257	0.0136129949470144	0.12488	0.615755	0.39536	0	0.573888	0.26702	0	0.618376	0.41669	0	0.562822	0.20929	0	.	.	3.26	-1.51	0.08207	0.291000	0.18748	0.355000	0.17517	-1.170000	0.01400	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1826:0.4022:0.179:0.2362	0.853	0.01102	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	78.98	37	chr12	67121	.	C	T	78.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=958;ExcessHet=0.0000;FS=5.643;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=33.22;MQRankSum=-2.034e+00;QD=1.44;ReadPosRankSum=1.53;SOR=1.273	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1041	20	0	1	0
chr12	138550	138550	C	G	exonic;splicing	IQSEC3;LOC574538	NR_033859:exon8:c.2537+1G>C	nonsynonymous SNV	IQSEC3:NM_015232:exon3:c.C278G:p.T93S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.998	D	0.994	D	0.000	D	1.000	D	2.485	M	-1.17	T	0.406	D	0.645	D	0.398	4.286	22.4	4.78	2.209	7.589	17.803	0.500	0.298370546491	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1290137028	6.996e-06	7.524e-06	9.733e-06	4.225e-06	9.065e-06	3.54e-06	2.58e-06	4.58e-06	3.34e-06	0	0	0	0	0	0	9.065e-06	0	0	6.571e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.019	0.50132	D	0.0	0.92824	D	0.997	0.73220	D	0.985	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.595	0.75868	M	-1.17	0.78199	T	-3.36	0.66549	D	0.497	0.53006	0.406	0.89189	D	0.645	0.87626	D	10	0.55541587	0.64489	D	0.298371	0.90799	D	0.500	0.78350	0.261	0.20473	0.760088798417	0.75791	0.8062618573770867	0.80581	1.08749244515	0.77338	0.777657151222	0.78574	T	0.296694	0.66932	T	0.0700392	0.60854	D	-0.13717	0.60363	T	0.966938376426697	0.67744	D	0.940306	0.77472	D	0.41353643	0.61659	0.38249734	0.63235	0.41353643	0.61660	0.38249734	0.63235	-7.938	0.71219	D	.	.	0.431	0.65216	A	.;.	.;.	4.728523	0.76132	26.5	0.99401944886140425	0.62841	0.98575	0.84269	D	AEFDBHCI	.	.	.	0.751098009848651	0.82976	7.897844	0.69406974500556	0.81929	7.642779	0.999999999999985	0.74766	0.582742	0.33608	0	0.547309	0.14657	0	0.61531	0.40942	0	0.542086	0.14980	0	.	.	4.78	4.78	0.60666	7.690000	0.83452	7.468000	0.59122	0.505000	0.23025	1.000000	0.71638	1.000000	0.68203	0.587000	0.31065	0.0:1.0:0.0:0.0	17.803	0.88505	.	.	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	872.98	34	chr12	138550	.	C	G	872.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.650e-01;DP=823;ExcessHet=0.0000;FS=0.810;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.59;ReadPosRankSum=0.632;SOR=0.804	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1620	20	0	1	0
chr12	226465	226465	C	T	exonic	SLC6A13	.	nonsynonymous SNV	SLC6A13:NM_001190997:exon7:c.G709A:p.G237S	.	.	409	1095	15	3	0	21	0.00949796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	2.875	M	-1.49	T	0.483	D	0.652	D	0.986	5.496	35	5.34	2.484	7.753	19.027	0.926	0.113246560177	0.0015	0.000998403	0.0013	0.0006	0.0023	0	0	0.0017	0.0066	0.0005	0.0013001	201	154602	rs140655819	0.0012	0.0012	0.0012	0.0012	0.0142	0.0012	0.0011	0.0117	0.0108	0.0010	0.0023	0.0135	0	9.362e-05	0.0142	0.0009	0.0023	0.0004	0.0014	0.0014	0.0015	0.0012	0.0025	0.0012	0.0011	0.0019	0.0017	0.0007	0.0011	0.0025	0.0115	0	9.422e-05	0.0170	0.0012	0.0052	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.39	0.68882	M	-1.49	0.81235	T	-5.24	0.84674	D	0.981	0.99100	0.483	0.90305	D	0.652	0.87869	D	10	0.104839474	0.19349	T	0.113247	0.79168	D	0.926	0.98192	.	.	0.83007336595	0.82846	0.8233017222909504	0.82287	0.19809157167	0.22186	0.622243762016	0.56046	T	0.372501	0.73667	T	0.0865726	0.62800	D	0.345412	0.90134	D	0.0352300457780154	0.02848	T	0.921108	0.86607	D	0.93738484	0.94981	0.85962284	0.92153	0.93738484	0.94981	0.85962284	0.92153	-10.723	0.81108	D	.	.	0.926	0.84656	P	.;.	.;.	4.885162	0.80157	27.3	0.99875432349529991	0.95244	0.93505	0.58400	D	AEFBHCI	0.939912	0.94116	D	0.869689627001227	0.90197	10.29623	0.816349215019553	0.90905	10.62512	0.999999995234613	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.600433	0.31921	0	0.564101	0.26826	0	.	.	5.34	5.34	0.75982	7.841000	0.85097	4.890000	0.45755	0.454000	0.21428	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:1.0:0.0:0.0	19.027	0.92915	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1057.98	33	chr12	226465	.	C	T	1057.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.493;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.69;ReadPosRankSum=0.535;SOR=0.596	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1221	20	0	1	0
chr12	309870	309870	T	C	exonic	KDM5A	.	nonsynonymous SNV	KDM5A:NM_001042603:exon22:c.A3311G:p.D1104G,	.	.	5	1503	14	0	0	14	0.00463576	.	.	753324	not_provided|KDM5A-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.1	T	0.001	B	0.003	B	0.000	D	1.000	D	0.9	L	-1.73	D	-0.378	T	0.444	T	0.222	2.641	14.79	5.92	2.255	3.979	16.353	0.334	.	0.0002	0.00259585	0.0017	0	0.0011	0	0	0.0003	0.0011	0.0107	0.0014489	224	154602	rs201344078	0.0009	0.0009	0.0006	0.0012	0.0112	0.0009	0.0008	0.0106	0.0103	2.99e-05	0.0008	3.827e-05	0	0	0.0012	0.0002	0.0010	0.0112	0.0006	0.0006	0.0004	0.0007	0.0118	0.0005	0.0004	0.0094	0.0085	7.215e-05	0	0.0010	0	0	0	0	0.0002	0	0.0118	0.192	0.20988	T	0.447	0.13066	T	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.047953	0.999981	0.54805	D	0.255	0.09829	N	-1.92	0.84773	D	0.02	0.06739	N	0.339	0.38027	-0.3782	0.72708	T	0.444	0.78124	T	10	0.007944077	0.00180	T	.	.	.	0.334	0.65620	.	.	0.206203607746	0.20212	0.5532631801951152	0.55252	0.239666914259	0.26511	0.492004603148	0.37716	T	0.140279	0.47474	T	-0.351601	0.04627	T	-0.268432	0.47978	T	0.0242367315862672	0.01174	T	0.840516	0.51562	T	0.20029108	0.41999	0.18359748	0.41359	0.20029108	0.41999	0.18359748	0.41358	-4.002	0.23834	T	.	.	0.096	0.15475	B	.	.	3.159092	0.42797	21.6	0.98882147109117824	0.47841	0.91016	0.52696	D	AEFBI	0.349626	0.44335	N	-0.028904609364582	0.40549	2.410021	0.182922526094968	0.48911	3.100887	0.839289507017523	0.24836	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.92	5.92	0.95557	3.970000	0.56530	7.880000	0.72453	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:0.0:1.0	16.353	0.83053	862	0.33134	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	531.98	33	chr12	309870	.	T	C	531.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.060e-01;DP=736;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.30;ReadPosRankSum=1.84;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1086	20	0	1	0
chr12	322426	322426	T	C	exonic	KDM5A	.	nonsynonymous SNV	KDM5A:NM_001042603:exon17:c.A2417G:p.Q806R,	.	.	0	1520	2	0	0	2	0.000657462	.	.	2436564	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.003	B	0.008	B	0.000	D	1.000	D	0.425	N	0.89	T	-1.057	T	0.064	T	0.543	0.867	8.514	5.73	2.179	5.930	16.021	0.184	0.00674458429109	0.0003	.	0.0002	0.0001	0.0003	0	0	0.0003	0	0.0001	0.0001746	27	154602	rs201777598	9.794e-05	9.85e-05	7.497e-05	0.0001	0.0012	8.454e-05	7.931e-05	0.0006	0.0004	0	0.0003	0.0007	0	0	0.0012	5.126e-05	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0009	0.0001	0.0001	0.0006	0.0004	2.405e-05	0	0.0009	0.0009	0	0	0	0.0001	0	0.0004	0.989	0.02600	T	0.677	0.06166	T	0.003	0.11197	B	0.008	0.13708	B	0.000009	0.62929	D	0.112602	0.999827	0.49512	D	0.22	0.09567	N	0.89	0.45636	T	-0.07	0.08033	N	0.397	0.43803	-1.0574	0.12414	T	0.064	0.26349	T	10	0.04067704	0.02657	T	0.006745	0.17812	T	0.184	0.45763	.	.	0.319322697148	0.31537	0.3529178467180857	0.35205	0.714059627268	0.61863	0.731037020683	0.71657	T	0.071377	0.34191	T	-0.315306	0.07290	T	-0.362731	0.37735	T	0.0697902664542198	0.08622	T	0.773923	0.40554	T	0.11480643	0.27099	0.15728977	0.36786	0.11480643	0.27099	0.15728977	0.36785	-8.847	0.66707	D	.	.	0.252	0.48624	B	.;.	.;.	3.467582	0.48358	22.6	0.62466588460455807	0.06970	0.99338	0.94702	D	AEFDBI	0.673619	0.63962	D	-0.240341654700202	0.31492	1.766291	0.0172717110923356	0.40516	2.419311	0.999999717276851	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.73	5.73	0.89730	5.908000	0.69653	7.853000	0.71059	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.021	0.80286	873	0.30802	Lysine-specific demethylase-like domain;Lysine-specific demethylase-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	644.98	34	chr12	322426	.	T	C	644.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.690e-01;DP=737;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.93;ReadPosRankSum=1.41;SOR=0.570	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1117	20	0	1	0
chr12	366038	366038	G	A	exonic	KDM5A	.	nonsynonymous SNV	KDM5A:NM_001042603:exon4:c.C433T:p.R145C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.982	D	0.000	D	1.000	D	2.35	M	-0.1	T	-0.125	T	0.436	T	0.745	4.043	20.8	5.66	2.832	3.726	14.910	0.400	0.110793643816	8.4e-05	0.000199681	7.455e-05	0.0001	0.0003	0.0001	0	5.995e-05	0	0	6.47e-05	10	154602	rs200673994	3.969e-05	3.968e-05	4.085e-05	3.851e-05	0.0003	3.113e-05	2.847e-05	7.281e-05	5.16e-05	5.975e-05	0.0002	3.827e-05	0.0001	0	0.0003	3.508e-05	1.656e-05	1.159e-05	4.597e-05	4.594e-05	5.14e-05	4.029e-05	0.0002	2.108e-05	1.526e-05	3.244e-05	1.911e-05	9.627e-05	0	0	0	0.0002	0	0	2.94e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.96	0.70309	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.54	0.74080	M	-0.1	0.64264	T	-5.17	0.88431	D	0.562	0.58629	-0.1252	0.79513	T	0.436	0.77618	T	10	0.5793647	0.65761	D	0.110794	0.78832	D	0.400	0.71401	.	.	0.535666536456	0.53216	0.5966554343683101	0.59595	1.95920376204	0.93432	0.767359137535	0.77029	T	0.462663	0.79893	T	-0.00128821	0.51477	T	-0.0139251	0.69428	D	0.871105194091797	0.52100	D	0.970603	0.90119	D	0.56450737	0.70758	0.4938744	0.70727	0.56450737	0.70759	0.4938744	0.70727	-6.574	0.50854	T	.	.	0.128	0.43975	B	.;.	.;.	5.623976	0.92626	32	0.99922662907510251	0.98852	0.97197	0.73262	D	AEFBI	0.605867	0.59642	D	0.77200926572076	0.84329	8.25737	0.750481199624327	0.86195	8.811599	0.349305415812949	0.19666	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	2.675000	0.46541	11.734000	0.95055	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.8568:0.1432	14.910	0.70390	550	0.72197	ARID DNA-binding domain|ARID DNA-binding domain|ARID DNA-binding domain;ARID DNA-binding domain|ARID DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1555.98	36	chr12	366038	.	G	A	1555.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.750e-01;DP=821;ExcessHet=0.0000;FS=2.246;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.25;ReadPosRankSum=-9.760e-01;SOR=0.917	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1157	20	0	1	0
chr12	553246	553246	G	C	exonic	B4GALNT3	.	nonsynonymous SNV	B4GALNT3:NM_173593:exon14:c.G1323C:p.E441D,	.	.	427	1038	55	2	0	59	0.0276347	.	.	702400	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.48	T	0.058	B	0.017	B	0.054	N	0.694	D	0.665	N	3.47	T	-1.030	T	0.027	T	0.177	1.279	10.18	1.79	0.130	-0.238	4.755	0.057	.	0.0059	0.00519169	0.0068	0.0022	0.0042	0	0.0005	0.0064	0.0079	0.0191	0.0065458	1012	154602	rs35419938	0.0063	0.0063	0.0059	0.0068	0.0229	0.0062	0.0062	0.0197	0.0185	0.0024	0.0040	0.0172	2.519e-05	0.0005	0.0229	0.0057	0.0076	0.0190	0.0051	0.0051	0.0051	0.0052	0.0174	0.0048	0.0047	0.0144	0.0133	0.0017	0	0.0040	0.0184	0	0.0007	0.0306	0.0069	0.0080	0.0174	0.17	0.28646	T	0.445	0.18449	T	0.001	0.22967	B	0.001	0.18140	B	0.054444	0.22724	N	0.513490	0.694362	0.33358	D	1.965	0.53209	M	3.47	0.33412	T	-0.71	0.20145	N	0.113	0.10056	-1.0298	0.20519	T	0.027	0.11485	T	10	0.003033489	0.00050	T	.	.	.	0.057	0.16321	0.061	0.00225	0.26547132957	0.26150	0.3320672336054664	0.33119	0.137519854837	0.15505	0.303518891335	0.10928	T	0.008035	0.10465	T	-0.55733	0.00263	T	-0.559063	0.16465	T	0.00424846492393013	0.00045	T	0.516848	0.17735	T	0.07017605	0.15436	0.050029136	0.07768	0.07017605	0.15436	0.050029136	0.07767	-4.023	0.24147	T	.	.	0.080	0.11220	B	.;.	.;.	0.637848	0.10061	6.812	0.98851990051414873	0.47305	0.06048	0.12017	N	AEFBI	0.067716	0.13326	N	-0.769882621636174	0.14100	0.6996357	-0.690678665284384	0.17193	0.9131054	0.993072403822061	0.33075	0.695654	0.57023	0	0.475579	0.06741	0	0.723109	0.80598	0	0.63947	0.58350	0	.	.	5.43	1.79	0.23992	0.007000	0.13074	0.008000	0.13396	0.676000	0.76740	0.008000	0.17931	0.003000	0.18671	0.309000	0.24713	0.2545:0.172:0.5735:0.0	4.755	0.12456	804	0.43891	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1481.11	34	chr12	553246	.	G	C	1481.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-7.700e-02;DP=781;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=0.795;SOR=0.721	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1174	19	0	2	0
chr12	553529	553529	C	T	exonic	B4GALNT3	.	nonsynonymous SNV	B4GALNT3:NM_173593:exon14:c.C1606T:p.H536Y,	.	.	410	1055	55	2	0	59	0.0272015	.	.	702401	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.75	P	0.129	B	0.065	N	1.000	N	0.345	N	3.47	T	-1.005	T	0.025	T	0.284	0.654	7.508	3.57	0.611	2.541	6.671	0.102	.	0.0058	0.00519169	0.0068	0.0022	0.0042	0	0.0005	0.0064	0.0078	0.0191	0.0066429	1027	154602	rs151321644	0.0063	0.0063	0.0059	0.0068	0.0229	0.0062	0.0062	0.0197	0.0185	0.0024	0.0040	0.0172	2.519e-05	0.0005	0.0229	0.0057	0.0076	0.0190	0.0051	0.0051	0.0051	0.0052	0.0172	0.0048	0.0047	0.0142	0.0131	0.0017	0	0.0040	0.0184	0	0.0007	0.0306	0.0068	0.0080	0.0172	0.698	0.07163	T	0.151	0.35205	T	0.002	0.43260	B	0.001	0.32841	B	0.064754	0.02181	N	1.800440	1	0.08975	N	1.355	0.33814	L	3.47	0.32958	T	-1.58	0.42001	N	0.204	0.22614	-1.0050	0.28457	T	0.025	0.10910	T	10	0.0034027994	0.00060	T	.	.	.	0.102	0.29158	.	.	0.33340067248	0.32956	0.23042138291317035	0.22957	0.216515701183	0.24171	0.293155878782	0.09383	T	0.006203	0.17282	T	-0.508331	0.00513	T	-0.488679	0.23528	T	0.0223731037280573	0.00951	T	0.50185	0.15733	T	0.052662954	0.09854	0.04470011	0.05851	0.052662954	0.09853	0.04470011	0.05851	-4.482	0.30652	T	.	.	0.074	0.07650	B	.;.	.;.	2.071965	0.26352	17.09	0.71380471459127814	0.09609	0.41381	0.26644	N	AEFDGBCI	0.100164	0.20147	N	-0.81097235367886	0.13029	0.6390703	-0.773372746637339	0.15149	0.7952879	0.999988630867901	0.51787	0.718356	0.82227	0	0.491552	0.07993	0	0.570548	0.19454	0	0.620976	0.48614	0	.	.	5.47	3.57	0.40014	4.056000	0.57161	3.976000	0.40865	0.580000	0.29708	0.771000	0.29368	0.735000	0.26442	0.002000	0.04165	0.2924:0.6219:0.0:0.0858	6.671	0.22260	804	0.43891	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2802.11	40	chr12	553529	.	C	T	2802.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-6.290e-01;DP=1182;ExcessHet=0.1072;FS=0.512;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.67;ReadPosRankSum=1.37;SOR=0.633	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	19	0	2	0
chr12	558560	558560	G	C	exonic	B4GALNT3	.	nonsynonymous SNV	B4GALNT3:NM_173593:exon18:c.G2660C:p.G887A,	.	.	414	1085	23	0	0	23	0.0104879	.	.	3185142	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.091	B	0.119	B	0.048	N	0.998	N	1.725	L	1.21	T	-1.025	T	0.054	T	0.554	0.531	6.874	4.85	2.385	2.734	14.012	0.116	0.00940082659047	0.0048	0.00319489	0.0041	0.0008	0.0033	0	0.0005	0.0054	0.0022	0.0052	0.0010737	166	154602	rs61730392	0.0049	0.0049	0.0048	0.0051	0.0180	0.0048	0.0048	0.0152	0.0142	0.0006	0.0026	0.0090	0	0.0005	0.0180	0.0053	0.0051	0.0060	0.0039	0.0039	0.0040	0.0038	0.0064	0.0036	0.0035	0.0056	0.0055	0.0009	0	0.0039	0.0078	0.0004	0.0003	0.0340	0.0061	0.0038	0.0064	0.173	0.22573	T	0.051	0.47828	T	0.091	0.25247	B	0.119	0.32162	B	0.047531	0.23336	N	0.450561	0.997748	0.22526	N	2.085	0.57729	M	1.21	0.37230	T	-3.07	0.63207	D	0.339	0.38027	-1.0250	0.22083	T	0.054	0.22959	T	10	0.007891625	0.00179	T	0.009401	0.24646	T	0.116	0.32463	.	.	0.382592752248	0.37866	0.5573434413093522	0.55661	0.285283984109	0.30940	0.503007769585	0.39247	T	0.025108	0.18839	T	-0.405663	0.02124	T	-0.345095	0.39767	T	0.0327530080428687	0.02430	T	0.80202	0.44827	T	0.14915045	0.34016	0.19425906	0.43039	0.14915045	0.34016	0.19425906	0.43038	-7.163	0.55215	T	.	.	0.107	0.20235	B	.	.	3.297854	0.45254	22.1	0.91282640441553953	0.20542	0.74996	0.36702	D	AEFGBI	0.154587	0.27964	N	-0.184703900682098	0.33770	1.919788	-0.127708451940447	0.34277	1.969932	0.999954154224236	0.48110	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	4.85	4.85	0.62375	2.341000	0.43640	4.424000	0.43326	0.676000	0.76740	0.990000	0.36992	1.000000	0.68203	0.433000	0.27516	0.0:0.1514:0.8486:0.0	14.012	0.64021	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2322.11	33	chr12	558560	.	G	C	2322.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.09;DP=883;ExcessHet=0.1072;FS=6.257;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.69;ReadPosRankSum=-1.121e+00;SOR=0.712	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1197	19	0	2	0
chr12	885158	885158	A	G	exonic	WNK1	.	nonsynonymous SNV	WNK1:NM_014823:exon17:c.A3613G:p.T1205A	Neuropathy, hereditary sensory and autonomic, type II, Autosomal recessive;Pseudohypoaldosteronism, type IIC, Autosomal dominant	.	0	1496	24	2	0	28	0.00927152	.	.	334722	Pseudohypoaldosteronism_type_2C|Inborn_genetic_diseases|Neuropathy,_hereditary_sensory_and_autonomic,_type_2A|not_provided	MONDO:MONDO:0013778,MedGen:C1840391,OMIM:614492,Orphanet:757,Orphanet:88940|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.47	T	0.001	B	0.002	B	0.009	N	1.000	N	0	N	0.7	T	-1.040	T	0.123	T	0.073	0.752	7.983	2.82	1.073	0.374	5.613	0.037	0.0117445497982	0.0006	0.00219649	0.0022	9.623e-05	0.0004	0	0	0.0016	0.0033	0.0086	0.0018628	288	154602	rs142543401	0.0013	0.0013	0.0010	0.0016	0.0083	0.0013	0.0012	0.0078	0.0076	8.961e-05	0.0012	0.0092	0	3.744e-05	0.0057	0.0007	0.0017	0.0083	0.0009	0.0009	0.0009	0.0010	0.0075	0.0008	0.0008	0.0055	0.0049	7.218e-05	0	0.0004	0.0078	0	0	0.0068	0.0009	0.0024	0.0075	0.229	0.18371	T	0.879	0.04079	T	0.001	0.07471	B	0.002	0.06944	B	0.008641	0.30747	N	0.278057	0.976503	0.25550	N	1.04	0.26193	L	-0.53	0.70833	T	-1.51	0.43524	N	0.009	0.00942	-1.0395	0.17465	T	0.123	0.42568	T	10	0.003441602	0.00061	T	0.011745	0.29664	T	0.037	0.09474	.	.	0.128874641272	0.12493	0.0696190929113242	0.06899	0.127101656324	0.14323	0.28781157732	0.08604	T	0.091031	0.59146	T	-0.536776	0.00350	T	-0.538268	0.18468	T	0.0079826106108378	0.00094	T	0.80282	0.45191	T	0.029895239	0.02561	0.03243497	0.01978	0.028756766	0.02262	0.042440437	0.05055	-3.796	0.21854	T	.	.	0.080	0.16231	B	.;.;.;.;.	.;.;.;.;.	0.772602	0.11424	8.034	0.88948226065806413	0.18385	0.10986	0.16329	N	AEFDGBI	0.061800	0.11839	N	-0.766911128326192	0.14178	0.7041848	-0.643701135600719	0.18376	0.981365	0.859200026322448	0.25192	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.3	2.82	0.32061	0.378000	0.20298	0.654000	0.20444	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.537000	0.29868	0.6019:0.239:0.1591:0.0	5.613	0.16694	552	0.72024	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	4415.98	159	chr12	885158	.	A	G	4415.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=3418;ExcessHet=0.0000;FS=0.404;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.76;ReadPosRankSum=1.31;SOR=0.653	GT:AD:DP:GQ:PL	0/0:168,0:168:99:0,120,1800	20	0	1	0
chr12	885872	885872	C	G	exonic	WNK1	.	nonsynonymous SNV	WNK1:NM_014823:exon17:c.C4327G:p.P1443A	Neuropathy, hereditary sensory and autonomic, type II, Autosomal recessive;Pseudohypoaldosteronism, type IIC, Autosomal dominant	.	0	1515	6	1	0	8	0.00263331	.	.	578505	Neuropathy,_hereditary_sensory_and_autonomic,_type_2A|Pseudohypoaldosteronism_type_2C	MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970|MONDO:MONDO:0013778,MedGen:C1840391,OMIM:614492,Orphanet:757,Orphanet:88940	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.12	T	0.082	B	0.039	B	0.000	N	1.000	D	1.095	L	-1.57	D	0.003	D	0.608	D	0.563	2.217	13.37	4.98	1.612	3.202	17.388	0.452	0.124524089538	.	.	5.789e-05	0	8.637e-05	0	0	0	0	0.0004	4.53e-05	7	154602	rs771546256	4.449e-05	4.446e-05	2.451e-05	6.468e-05	0.0006	3.577e-05	3.259e-05	0.0005	0.0005	0	0	0	0	0	0	6.299e-06	3.313e-05	0.0006	3.285e-05	3.94e-05	2.569e-05	4.035e-05	0.0004	1.261e-05	7.98e-06	7.287e-05	3.028e-05	2.412e-05	0	0	0	0	0	0	2.94e-05	0	0.0004	0.074	0.35537	T	1.0	0.28669	T	0.046	0.21875	B	0.027	0.21085	B	0.000115	0.50451	N	0.087473	0.997926	0.44325	D	1.79	0.46772	L	-2.8	0.91076	D	-4.57	0.80256	D	0.239	0.26957	0.003	0.82311	D	0.608	0.86111	D	10	0.122582406	0.23257	T	0.124524	0.80589	D	0.452	0.75211	0.311	0.28451	0.40642006208	0.40259	0.3803628023096669	0.37951	0.448429279266	0.44671	0.400211215019	0.25098	T	0.25618	0.87278	T	-0.134034	0.30846	T	-0.066144	0.65900	T	0.131805352417146	0.15548	T	0.878412	0.59357	D	0.19272722	0.40953	0.21013972	0.45388	0.19272722	0.40953	0.21013972	0.45387	-3.593	0.18263	T	.	.	0.067	0.07412	B	.;.;.;.;.	.;.;.;.;.	2.605014	0.33824	19.45	0.98038702051356297	0.37774	0.97730	0.76719	D	AEFDBI	0.356941	0.44814	N	-0.0776401916282595	0.38374	2.246598	0.0976206796174211	0.44429	2.724841	0.989302221242801	0.31782	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	4.98	0.65679	3.056000	0.49616	4.239000	0.42696	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:0.8752:0.1248:0.0	17.388	0.87313	551	0.72115	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1919.98	45	chr12	885872	.	C	G	1919.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=1062;ExcessHet=0.0000;FS=1.305;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=0.889;SOR=0.824	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,114,1710	20	0	1	0
chr12	908664	908664	G	A	exonic	WNK1	.	nonsynonymous SNV	WNK1:NM_014823:exon26:c.G6277A:p.G2093S	Neuropathy, hereditary sensory and autonomic, type II, Autosomal recessive;Pseudohypoaldosteronism, type IIC, Autosomal dominant	.	0	225	1	0	0	1	0.00221729	.	.	318634	not_provided|Inborn_genetic_diseases|Pseudohypoaldosteronism_type_2C|Neuropathy,_hereditary_sensory_and_autonomic,_type_2A	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013778,MedGen:C1840391,OMIM:614492,Orphanet:757,Orphanet:88940|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.26	T	0.18	B	0.046	B	0.002	N	1.000	N	0.585	N	1.09	T	-0.858	T	0.182	T	0.279	2.176	13.23	4.27	2.730	3.284	13.287	0.053	0.0205494850597	0.0007	0.000199681	0.0004	0	0.0006	0	0	0.0006	0.0011	0.0002	0.0004722	73	154602	rs146042595	0.0008	0.0008	0.0007	0.0008	0.0009	0.0007	0.0007	0.0009	0.0008	0.0001	0.0007	0	0	0	0.0005	0.0009	0.0004	0.0002	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0005	0.0008	0.0007	0.0002	0	0.0009	0	0	0	0	0.0010	0	0	0.285	0.18956	T	1.0	0.12421	T	0.17	0.29046	B	0.046	0.24676	B	0.001864	0.37789	N	0.120660	0.831661	0.28977	N	1.7	0.43825	L	-0.48	0.70249	T	-1.45	0.49684	N	0.243	0.27435	-0.8579	0.51413	T	0.182	0.53026	T	10	0.025352627	0.00732	T	0.020549	0.43168	T	0.053	0.14996	.	.	0.282416095408	0.27849	0.4889766587300523	0.48817	0.161159105999	0.18189	0.417471408844	0.27489	T	0.062903	0.55673	T	-0.365744	0.03815	T	-0.32277	0.42270	T	0.020604898229857	0.00760	T	0.914409	0.71352	D	0.08034131	0.18403	0.12267641	0.29588	0.08807615	0.20533	0.12882221	0.30986	-3.202	0.12505	T	.	.	0.065	0.02960	B	.;.;.;.;.	.;.;.;.;.	2.918103	0.38732	20.8	0.95998577639250826	0.28408	0.88554	0.48536	D	AEFDGBCI	0.345950	0.44093	N	-0.0881248703568793	0.37913	2.212654	0.0953532710927191	0.44313	2.715592	0.999995737175839	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.24	4.27	0.50009	3.384000	0.52216	4.962000	0.46347	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.1281:0.0:0.8719:0.0	13.287	0.59683	508	0.75398	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	2955.98	35	chr12	908664	.	G	A	2955.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.79;DP=899;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.93;ReadPosRankSum=0.472;SOR=0.734	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1206	20	0	1	0
chr12	916501	916501	G	A	exonic	RAD52	.	nonsynonymous SNV	RAD52:NM_001297422:exon9:c.C760T:p.R254C,	.	.	413	1106	3	0	0	3	0.0013544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.001	B	0.0	B	.	.	1.000	N	.	.	1.37	T	-1.003	T	0.046	T	0.06	1.817	12.03	-6.85	-1.263	0.191	2.443	0.040	0.00179909436572	.	.	0.0002	0	0.0002	0	0	0.0002	0	0.0007	0.0001682	26	154602	rs746941880	0.0001	0.0001	9.855e-05	0.0001	0.0014	0.0001	9.955e-05	0.0007	0.0005	2.992e-05	0.0005	3.838e-05	0	0	0.0014	7.656e-05	6.655e-05	0.0006	6.57e-05	6.566e-05	6.422e-05	6.724e-05	0.0004	3.516e-05	2.616e-05	7.276e-05	3.024e-05	2.412e-05	0	0.0002	0	0	0	0.0032	4.409e-05	0	0.0004	0.024	0.47745	D	0.02	0.58613	D	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.37	0.34253	T	-1.37	0.33998	N	0.143	0.14338	-1.0031	0.29021	T	0.046	0.19599	T	8	0.035342306	0.01779	T	0.001799	0.03089	T	0.040	0.10527	.	.	0.12205267543	0.11705	.	.	.	.	.	.	.	0.020918	0.16384	T	-0.587598	0.00173	T	-0.736882	0.04023	T	0.0069716924210103	0.00079	T	0.371663	0.08799	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.24088	B	.	.	0.690920	0.10597	7.300	0.91324163629803257	0.20586	0.05849	0.11793	N	AEFDBHCIJ	0.033913	0.04109	N	-1.3570937406334	0.03052	0.1357354	-1.50997507081581	0.02267	0.1039959	0.999999898515087	0.74766	0.562547	0.31514	0	0.573116	0.20632	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	3.87	-6.85	0.01521	-0.522000	0.06323	-0.435000	0.09196	-0.254000	0.07082	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.1889:0.2973:0.3801:0.1337	2.443	0.04225	498	0.76166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	934.98	37	chr12	916501	.	G	A	934.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=762;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.85;ReadPosRankSum=-1.071e+00;SOR=0.719	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1168	20	0	1	0
chr12	1946235	1946235	T	A	exonic	DCP1B	.	nonsynonymous SNV	DCP1B:NM_152640:exon9:c.A1825T:p.T609S,	.	.	422	1097	3	0	0	3	0.0013655	.	.	3243317	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.877	P	0.411	B	0.000	D	1.000	N	1.495	L	2.19	T	-1.059	T	0.046	T	0.159	2.628	14.75	4.25	1.072	2.419	6.533	0.040	0.00536466684504	7.7e-05	0.000199681	0.0001	0	0.0003	0	0	0.0001	0	0.0001	0.00011	17	154602	rs140587731	0.0001	0.0001	9.298e-05	0.0001	0.0024	9.16e-05	8.688e-05	0.0015	0.0012	0	0.0004	3.854e-05	0	0	0.0024	9.196e-05	0.0001	0.0001	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	8.719e-05	0.0002	0.0001	0	0	0.0004	0	0	0	0	0.0003	0	0	0.012	0.54683	D	0.682	0.06071	T	0.877	0.48223	P	0.265	0.39681	B	0.000318	0.45977	D	0.225170	0.934566	0.28377	N	2.34	0.67151	M	2.19	0.18724	T	-1.36	0.33798	N	0.165	0.17416	-1.0593	0.11931	T	0.046	0.19800	T	10	0.07256666	0.10849	T	0.005365	0.13740	T	0.040	0.10527	0.455	0.51938	0.331876078066	0.32801	0.15882151948878173	0.15803	0.147406636612	0.16629	0.513592004776	0.40725	T	0.007284	0.06695	T	-0.405247	0.02138	T	-0.505628	0.21765	T	0.11502632322271	0.13936	T	.	.	.	0.06769701	0.14683	0.08913469	0.20825	0.06769701	0.14682	0.08913469	0.20824	-2.584	0.06382	T	.	.	0.117	0.23814	B	.	.	2.418228	0.31091	18.64	0.97988227370290482	0.37379	0.95214	0.63861	D	AEFBI	0.172128	0.29914	N	0.208642497820078	0.51616	3.341565	0.25365649876693	0.52856	3.457867	0.975969534148127	0.29681	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.39	4.25	0.49658	2.424000	0.44370	2.842000	0.35086	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0806:0.1558:0.7636	6.533	0.21537	861	0.33516	mRNA-decapping enzyme, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1139.98	37	chr12	1946235	.	T	A	1139.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.976;DP=760;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.80;ReadPosRankSum=0.234;SOR=0.678	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1114	20	0	1	0
chr12	1949327	1949327	G	A	exonic	DCP1B	.	nonsynonymous SNV	DCP1B:NM_152640:exon8:c.C1532T:p.S511L,	.	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	1.0	D	0.991	D	0.000	D	1.000	D	1.905	M	1.81	T	-0.937	T	0.149	T	0.817	3.935	20.1	4.64	2.557	5.454	17.032	0.224	0.0280032831603	7.7e-05	0.000199681	9.925e-05	0	0.0003	0	0	0.0001	0	0.0001	9.7e-05	15	154602	rs148983350	0.0001	0.0001	9.939e-05	0.0001	0.0024	9.942e-05	9.35e-05	0.0015	0.0012	0.0001	0.0004	3.826e-05	0	0	0.0024	9.533e-05	0.0001	0.0002	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	9.693e-05	0.0002	0.0001	4.811e-05	0	0.0004	0	0	0	0	0.0002	0	0	0.039	0.42487	D	0.143	0.33219	T	0.998	0.73220	D	0.991	0.79672	D	0.000086	0.51296	D	0.136010	0.994584	0.42337	D	2.16	0.60381	M	1.81	0.25182	T	-2.65	0.56787	D	0.45	0.48780	-0.9374	0.43025	T	0.149	0.47646	T	10	0.2815163	0.45729	T	0.028003	0.50746	D	0.224	0.52174	.	.	0.589282225109	0.58603	0.5325837548119093	0.53183	0.407494054589	0.41607	0.38910472393	0.23544	T	0.027828	0.20292	T	-0.15049	0.28235	T	-0.125985	0.61308	T	0.297186702489853	0.24887	T	.	.	.	0.13874727	0.32077	0.13625546	0.32601	0.13874727	0.32077	0.13625546	0.32600	-3.555	0.17211	T	.	.	0.132	0.28464	B	.	.	3.934663	0.57533	23.9	0.99695673808126384	0.80248	0.92259	0.55302	D	AEFGBCI	0.434655	0.49562	N	0.383220401594894	0.60512	4.240967	0.248223977688551	0.52548	3.428997	0.999999538772868	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.64	4.64	0.57399	5.795000	0.68728	7.369000	0.58386	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.225000	0.22599	0.0:0.0:1.0:0.0	17.032	0.86339	856	0.34373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1458.98	38	chr12	1949327	.	G	A	1458.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.346;DP=897;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=0.264;SOR=0.655	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr12	2677831	2677831	G	C	exonic	CACNA1C	.	nonsynonymous SNV	CACNA1C:NM_001129837:exon40:c.G5079C:p.E1693D	Brugada syndrome 3;Timothy syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.99	D	0.979	D	0.957	N	1.000	D	1.67	L	-3.92	D	0.719	D	0.898	D	0.516	1.587	11.26	3.64	2.402	1.691	6.835	0.516	0.0984370134189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.40573	T	0.062	0.52389	T	0.808	0.63424	P	0.275	0.74454	B	0.957208	0.08248	N	0.976724	0.999467	0.47157	D	2.315	0.66250	M	-4.09	0.96772	D	-1.94	0.45042	N	0.485	0.56748	0.719	0.93405	D	0.898	0.96605	D	10	0.30664805	0.48173	T	0.098437	0.76941	D	0.516	0.79340	0.341	0.33302	0.854859035509	0.85346	0.6617621861880766	0.66113	0.178138410409	0.20040	0.75000667572	0.74447	T	0.010745	0.22062	T	0.187027	0.72690	D	0.0308744	0.72336	D	0.197412386536598	0.20272	T	.	.	.	.	.	.	.	.	.	.	.	-7.769	0.59485	D	.	.	0.322	0.62271	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.174263	0.43060	21.7	0.99057970756030855	0.51413	0.94609	0.61725	D	AEFBI	0.641712	0.61894	D	0.0269888870314487	0.43085	2.608398	0.0573250786890299	0.42425	2.56599	0.0455334280670845	0.14656	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.62	3.64	0.40864	1.574000	0.36091	1.450000	0.26598	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1963:0.0:0.8037:0.0	6.835	0.23115	866	0.32446	Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;.;.;.;.;.;.;.;.;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;Voltage-gated calcium channel subunit alpha, C-terminal;Voltage-gated calcium channel subunit alpha, C-terminal;Voltage-gated calcium channel subunit alpha, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	42.08	107	chr12	2677831	.	G	C	42.08	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-3.589e+00;DP=2514;ExcessHet=0.0000;FS=77.154;InbreedingCoeff=-0.0940;MLEAC=1;MLEAF=0.031;MQ=60.00;MQRankSum=0.00;QD=0.25;ReadPosRankSum=0.283;SOR=6.593	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:152,0:152:0:.:.:0,0,2987	15	0	1	5
chr12	2677832	2677832	G	C	exonic	CACNA1C	.	nonsynonymous SNV	CACNA1C:NM_001129837:exon40:c.G5080C:p.A1694P	Brugada syndrome 3;Timothy syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.951	P	0.742	P	0.955	N	1.000	D	0.795	N	-3.73	D	0.566	D	0.862	D	0.181	1.376	10.53	4.62	2.402	3.309	17.639	0.312	0.168125990135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.27904	T	0.324	0.19016	T	0.001	0.53992	B	0.004	0.55764	B	0.955475	0.08259	N	0.975185	0.99874	0.45372	D	0.51	0.13489	N	-3.91	0.96277	D	-1.11	0.33798	N	0.194	0.30233	0.566	0.91455	D	0.862	0.95418	D	10	0.1827906	0.33575	T	0.168126	0.84631	D	0.312	0.63375	0.359	0.36222	0.526448013984	0.52292	0.8296726985909174	0.82925	0.247068042511	0.27244	0.755146980286	0.75208	T	0.009692	0.20449	T	0.0676861	0.60565	T	-0.14055	0.60069	T	0.401444281778735	0.28996	T	.	.	.	.	.	.	.	.	.	.	.	-12.063	0.87069	D	.	.	0.947	0.89314	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.226746	0.63974	24.6	0.97515105936428548	0.34373	0.94381	0.60984	D	AEFBI	0.849904	0.76673	D	-0.213977285304823	0.32560	1.837526	-0.0751978937003241	0.36420	2.119189	0.803149056102645	0.24221	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.62	4.62	0.56946	4.245000	0.58529	9.742000	0.81438	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	17.639	0.88034	866	0.32446	Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;.;.;.;.;.;.;.;.;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;Voltage-gated calcium channel subunit alpha, C-terminal;Voltage-gated calcium channel subunit alpha, C-terminal;Voltage-gated calcium channel subunit alpha, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02778	41.1	144	chr12	2677832	.	G	C	41.1	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-4.972e+00;DP=1473;ExcessHet=0.0000;FS=149.509;InbreedingCoeff=-0.0638;MLEAC=1;MLEAF=0.028;MQ=60.00;MQRankSum=0.00;QD=0.24;ReadPosRankSum=0.319;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1530	17	0	1	3
chr12	2679471	2679471	G	A	exonic	CACNA1C	.	nonsynonymous SNV	CACNA1C:NM_001129837:exon41:c.G5143A:p.V1715I	Brugada syndrome 3;Timothy syndrome, Autosomal dominant	.	0	1509	13	0	0	13	0.00428901	.	.	188609	Long_QT_syndrome|Cardiovascular_phenotype|not_provided|not_specified	MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN230736|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.25	T	1.0	D	0.994	D	0.000	N	1.000	D	1.85	L	-3.78	D	0.500	D	0.935	D	0.497	3.911	19.89	4.4	2.293	8.962	17.178	0.502	0.173233641019	8.1e-05	0.000199681	0.0007	0	0.0005	0	0	0.0008	0	0.0016	0.0002652	41	154602	rs147896322	0.0002	0.0002	0.0002	0.0002	0.0051	0.0002	0.0002	0.0037	0.0032	6.063e-05	0.0002	8.041e-05	7.682e-05	1.923e-05	0.0051	0.0002	0.0004	0.0004	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0002	2.406e-05	0	0.0005	0	0	0	0	0.0002	0.0005	0.0004	0.152	0.25255	T	0.564	0.13140	T	0.999	0.90584	D	0.987	0.82059	D	0.000000	0.00162	N	135.237000	0.999999	0.58761	D	2.32	0.66415	M	-3.92	0.96308	D	-0.59	0.17624	N	0.664	0.70615	0.500	0.90549	D	0.935	0.97846	D	10	0.15100849	0.28552	T	0.173234	0.84999	D	0.502	0.78475	.	.	0.846321943348	0.84484	0.4400439593453724	0.43921	0.425654640639	0.42967	0.617051482201	0.55312	T	0.004665	0.11001	T	0.00869578	0.52846	T	0.0806911	0.75624	D	0.0925779055125915	0.11520	T	.	.	.	.	.	.	.	.	.	.	.	-4.754	0.35825	T	.	.	0.126	0.35829	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.963306	0.82083	27.7	0.99848922393875916	0.92838	0.98787	0.86849	D	AEFDBI	0.926719	0.90827	D	0.505362786194092	0.67405	5.077439	0.512934559137171	0.68858	5.278617	0.999999999947849	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	4.4	4.4	0.52402	9.301000	0.95253	11.722000	0.94835	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.178	0.86727	866	0.32446	Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;.;.;.;.;.;.;.;.;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;.;Voltage-gated calcium channel subunit alpha, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	1193.98	35	chr12	2679471	.	G	A	1193.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.94;DP=830;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=0.345;SOR=0.781	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1221	20	0	1	0
chr12	2888137	2888137	T	G	exonic	RHNO1	.	nonsynonymous SNV	RHNO1:NM_001252499:exon3:c.T395G:p.L132R	.	.	428	1083	11	0	0	11	0.00505282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.997	D	0.925	D	0.310	N	1.000	D	.	.	.	.	-0.783	T	0.261	T	0.401	3.738	18.98	5.21	2.088	1.524	8.825	0.113	0.0112099977237	0.0005	0.000399361	0.0003	0	0.0003	0.0001	0	0.0005	0	0.0004	0.0003169	49	154602	rs139680365	0.0003	0.0003	0.0003	0.0003	0.0066	0.0003	0.0003	0.0049	0.0044	8.962e-05	0.0003	3.827e-05	0	1.872e-05	0.0066	0.0003	0.0005	0.0005	0.0003	0.0003	0.0004	0.0003	0.0010	0.0003	0.0002	0.0005	0.0004	2.406e-05	0	0.0001	0	0	0	0	0.0006	0.0009	0.0010	0.433	0.09927	T	0.046	0.49120	D	0.997	0.70673	D	0.925	0.65999	D	0.309933	0.14451	N	0.675752	0.995376	0.81001	N	1.895	0.50365	L	.	.	.	-1.78	0.42001	N	0.376	0.41754	-0.7830	0.56132	T	0.261	0.63186	T	8	0.06414983	0.08464	T	0.01121	0.28600	T	0.113	0.31778	.	.	0.390687800842	0.38684	0.20644503416910384	0.20561	0.524498172244	0.50131	0.382500052452	0.22611	T	0.018686	0.15018	T	-0.271487	0.11591	T	-0.285018	0.46288	T	0.0611506254065852	0.07349	T	0.711029	0.32195	T	0.057298496	0.11385	0.098517016	0.23490	0.057298496	0.11385	0.098517016	0.23489	-4.611	0.32310	T	.	.	0.234	0.46779	B	.;.;.	.;.;.	3.607112	0.50976	23.0	0.99697389010517978	0.80385	0.67197	0.33346	D	AEFBCI	0.202921	0.32948	N	0.405450104065174	0.61721	4.377134	0.413607627013187	0.62410	4.456111	0.867216748348565	0.25342	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.21	5.21	0.72005	1.554000	0.35873	4.957000	0.46318	0.665000	0.62972	0.917000	0.31872	1.000000	0.68203	0.998000	0.85391	0.1672:0.0:0.0:0.8328	8.825	0.34206	851	0.35303	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2561.98	38	chr12	2888137	.	T	G	2561.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.487e+00;DP=1078;ExcessHet=0.0000;FS=0.503;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.81;ReadPosRankSum=1.20;SOR=0.763	GT:AD:DP:GQ:PL	0/1:104,113:217:99:2576,0,2633	20	0	1	0
chr12	3673464	3673464	A	T	exonic	CRACR2A	.	nonsynonymous SNV	CRACR2A:NM_001144958:exon7:c.T653A:p.L218Q	.	.	428	1082	10	2	0	14	0.00642792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.987	D	0.000	D	0.780	D	1.7	L	1.97	T	-0.681	T	0.151	T	0.678	2.746	15.14	4.55	1.679	8.500	11.865	0.324	0.031340989727	0.0019	0.000599042	0.0018	9.61e-05	0.0020	0	0	0.0027	0.0022	0.0004	0.0016817	260	154602	rs144274217	0.0013	0.0013	0.0013	0.0013	0.0130	0.0013	0.0013	0.0106	0.0098	0.0004	0.0021	0.0310	0	1.872e-05	0.0130	0.0006	0.0032	0.0006	0.0016	0.0016	0.0015	0.0017	0.0029	0.0014	0.0014	0.0022	0.0020	0.0003	0	0.0029	0.0285	0	0	0.0340	0.0010	0.0028	0.0008	0.002	0.78490	D	0.0	0.92824	D	0.999	0.90584	D	0.987	0.77487	D	0.000001	0.62929	D	0.052067	0.779664	0.34251	D	3.07	0.87108	M	1.97	0.26588	T	-3.72	0.76980	D	0.84	0.83576	-0.6812	0.61316	T	0.151	0.47979	T	10	0.010391712	0.00231	T	0.031341	0.53444	D	0.324	0.64624	.	.	0.842805522677	0.84130	0.5434982360544246	0.54275	0.467350245832	0.46119	0.532252430916	0.43352	T	0.330346	0.70054	T	-0.227509	0.16981	T	-0.105125	0.62997	T	0.100992852795639	0.12466	T	0.928457	0.74652	D	0.7320854	0.79841	0.6412755	0.79040	0.7320854	0.79843	0.6412755	0.79041	-11.59	0.82796	D	.	.	0.372	0.57927	A	.;.	.;.	5.055976	0.84244	28.3	0.99109044399682489	0.52674	0.98326	0.81656	D	AEFDGBI	0.897588	0.83993	D	0.568687741954592	0.71225	5.618916	0.501084574439941	0.68063	5.168736	0.999652754657121	0.41424	0.732398	0.92422	0	0.724815	0.89359	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	4.55	4.55	0.55429	8.632000	0.90760	10.961000	0.84462	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.670000	0.33251	1.0:0.0:0.0:0.0	11.865	0.51768	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	915.98	34	chr12	3673464	.	A	T	915.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.606;DP=744;ExcessHet=0.0000;FS=3.025;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.08;ReadPosRankSum=0.151;SOR=1.464	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1088	20	0	1	0
chr12	4434279	4434279	C	T	exonic	FGF6	.	nonsynonymous SNV	FGF6:NM_020996:exon3:c.G563A:p.R188Q,	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	1.0	D	0.99	D	0.000	D	1.000	D	1.775	L	1.47	T	-0.959	T	0.170	T	0.85	5.017	29.6	5.13	2.381	5.540	18.615	0.215	0.0456375896225	0.0025	0.000399361	0.0024	0.0008	0.0016	0	0.0030	0.0034	0	0.0010	0.002445	378	154602	rs71583765	0.0033	0.0033	0.0034	0.0032	0.0040	0.0032	0.0032	0.0039	0.0038	0.0006	0.0011	7.652e-05	5.038e-05	0.0020	0.0005	0.0040	0.0026	0.0010	0.0023	0.0023	0.0022	0.0024	0.0040	0.0021	0.0020	0.0036	0.0034	0.0007	0	0.0011	0	0	0.0017	0.0034	0.0040	0.0014	0.0019	0.012	0.54683	D	0.177	0.29740	T	1.0	0.90584	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.765	0.45800	L	1.47	0.31987	T	-1.85	0.43334	N	0.689	0.69474	-0.9588	0.39405	T	0.170	0.51101	T	10	0.041817218	0.02872	T	0.045638	0.62075	D	0.215	0.50805	.	.	0.715505070397	0.71301	0.5884965233508683	0.58779	0.878555102534	0.69670	0.540125072002	0.44462	T	0.540497	0.84258	D	-0.185027	0.22991	T	-0.0362209	0.67955	D	0.0407010599207231	0.03818	T	0.966303	0.87634	D	0.5367113	0.69211	0.3362318	0.59428	0.5367113	0.69213	0.3362318	0.59427	-6.404	0.49540	T	.	.	0.140	0.30582	B	.	.	5.134479	0.85931	28.8	0.99957160403085776	0.99981	0.96258	0.68266	D	AEFDBI	0.721225	0.67154	D	0.631312920820641	0.75164	6.257879	0.622580383452147	0.76585	6.517881	0.999999999999862	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.13	5.13	0.69729	5.835000	0.69073	7.649000	0.63599	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:1.0:0.0:0.0	18.615	0.91254	870	0.31527	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1766.98	33	chr12	4434279	.	C	T	1766.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.87;DP=856;ExcessHet=0.0000;FS=1.252;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=-1.753e+00;SOR=0.594	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr12	4548716	4548716	G	A	exonic	RAD51AP1	.	nonsynonymous SNV	RAD51AP1:NM_006479:exon6:c.G436A:p.V146I	.	.	424	1059	38	1	0	40	0.0185357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.002	B	0.005	B	0.309	N	1.000	N	1.245	L	1.49	T	-1.053	T	0.034	T	0.099	-0.013	3.949	-5.89	-1.521	-2.007	1.902	0.011	.	0.0035	0.00359425	0.0054	0.0011	0.0024	0	0.0014	0.0053	0.0066	0.0154	0.0051228	792	154602	rs114193736	0.0063	0.0063	0.0060	0.0065	0.0151	0.0062	0.0061	0.0144	0.0141	0.0010	0.0024	0.0006	2.519e-05	0.0010	0.0057	0.0066	0.0055	0.0151	0.0034	0.0034	0.0036	0.0032	0.0118	0.0032	0.0031	0.0093	0.0085	0.0010	0.0011	0.0033	0.0003	0	0.0007	0.0136	0.0052	0.0028	0.0118	0.623	0.08458	T	0.297	0.21745	T	0.002	0.09854	B	0.002	0.06944	B	0.309231	0.04004	N	1.490830	1	0.08975	N	1.32	0.33002	L	1.49	0.31470	T	-0.24	0.11366	N	0.074	0.06587	-1.0533	0.13493	T	0.034	0.14639	T	10	0.0030179322	0.00049	T	.	.	.	0.011	0.01250	.	.	0.171388866994	0.16791	0.012136688093202803	0.01172	0.0797471840611	0.08979	0.218657553196	0.01233	T	0.001945	0.01356	T	-0.654249	0.00068	T	-0.699586	0.05848	T	0.000695740826581034	0.00006	T	0.529047	0.17505	T	0.017670278	0.00293	0.016657619	0.00019	0.017670278	0.00293	0.016657619	0.00019	-3.565	0.17742	T	.	.	0.080	0.07937	B	.;.;.	.;.;.	-1.394296	0.00364	0.007	0.63327562369559387	0.07195	0.01624	0.05244	N	AEFBI	0.054611	0.09945	N	-1.41984862399728	0.02464	0.1088679	-1.52658162101311	0.02141	0.09803702	0.90136843482508	0.26099	0.732398	0.92422	0	0.724815	0.89359	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	4.97	-5.89	0.02093	-1.175000	0.03211	-1.842000	0.04627	-0.678000	0.04252	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.265:0.1713:0.4169:0.1468	1.902	0.03072	862	0.33134	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	220.98	33	chr12	4548716	.	G	A	220.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.475;DP=729;ExcessHet=0.0000;FS=2.969;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.70;ReadPosRankSum=-6.840e-01;SOR=1.363	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1256	20	0	1	0
chr12	4591261	4591261	G	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.G81C:p.K27N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.418	B	0.122	B	0.121	N	1.000	N	1.7	L	-0.07	T	-0.998	T	0.134	T	0.063	0.770	8.072	-2.7	-0.238	-0.480	5.450	0.029	0.0114393036777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.479e-06	0.0002	5.452e-06	5.506e-06	1.16e-05	2.36e-06	1.7e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.303e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.401	0.14961	T	0.346	0.33564	B	0.084	0.29270	B	0.121393	0.18998	N	0.456574	1	0.08975	N	1.725	0.44537	L	-0.08	0.63911	T	0.73	0.02068	N	0.144	0.14480	-0.9982	0.30423	T	0.134	0.44720	T	10	0.07988778	0.12903	T	0.011439	0.29067	T	0.029	0.06676	0.269	0.21735	0.558735321446	0.55534	0.18653166389102285	0.18571	0.09495456672	0.10722	0.417934507132	0.27553	T	9.22E-4	0.00478	T	-0.259265	0.12987	T	-0.610193	0.11969	T	0.123014807701111	0.14722	T	0.59544	0.22079	T	0.04078166	0.05886	0.040100157	0.04256	0.04078166	0.05886	0.040100157	0.04256	-4.202	0.26780	T	.	.	0.104	0.18869	B	.;.;.	.;.;.	0.165782	0.05554	2.014	0.79475724993608643	0.12759	0.01358	0.04650	N	AEFDBI	0.066344	0.12987	N	-1.06848562840135	0.07230	0.3352268	-1.19599880480459	0.05976	0.2863112	2.00585938924982E-4	0.05898	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-2.7	0.05651	-0.445000	0.06918	0.067000	0.14209	-0.678000	0.04252	0.001000	0.13787	0.000000	0.08366	0.446000	0.27806	0.499:0.1481:0.3529:0.0	5.450	0.15851	834	0.38640	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4286	4735.5	83	chr12	4591261	.	G	C	4735.5	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-2.041e+00;DP=1832;ExcessHet=30.0624;FS=292.214;InbreedingCoeff=-0.7498;MLEAC=18;MLEAF=0.429;MQ=60.00;MQRankSum=0.00;QD=3.39;ReadPosRankSum=0.900;SOR=12.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:54,44:103:99:.:.:603,0,712	3	0	18	0
chr12	4591262	4591262	T	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.T82C:p.S28P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.0	B	0.0	B	0.236	N	1.000	N	-0.805	N	-0.1	T	-1.084	T	0.068	T	0.059	0.995	9.062	-3.92	-0.512	-0.125	0.780	0.089	0.00440886597753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.577e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	0.11406	T	0.313	0.19539	T	0.0	0.02946	B	0.0	0.01387	B	0.235795	0.03549	N	1.561320	1	0.08975	N	-0.805	0.01590	N	-0.1	0.64264	T	-0.27	0.11366	N	0.079	0.05414	-1.0842	0.06553	T	0.068	0.27743	T	10	0.039215803	0.02395	T	0.004409	0.10781	T	0.089	0.25827	0.325	0.30711	0.42526943336	0.42144	0.11389244541155054	0.11317	0.101335283325	0.11470	0.327304363251	0.14527	T	7.42E-4	0.00347	T	-0.283232	0.10329	T	-0.644619	0.09335	T	0.190787822008133	0.19891	T	0.451055	0.13062	T	0.044260852	0.07044	0.05666178	0.10162	0.044260852	0.07043	0.05666178	0.10161	-3.8	0.20805	T	.	.	0.055	0.00397	B	.;.;.	.;.;.	0.139343	0.05334	1.822	0.72541810839383536	0.10010	0.00255	0.01401	N	AEFDBI	0.036495	0.04872	N	-1.57976836352683	0.01369	0.0596469	-1.57847201873377	0.01787	0.08134935	5.90958891872362E-4	0.07390	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-3.92	0.03880	-0.110000	0.10794	-0.393000	0.09462	-0.181000	0.10308	0.001000	0.13787	0.000000	0.08366	0.483000	0.28633	0.3313:0.3776:0.1218:0.1694	0.780	0.00973	834	0.38640	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	304.11	40	chr12	4591262	.	T	C	304.11	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-3.075e+00;DP=1456;ExcessHet=1.7912;FS=131.276;InbreedingCoeff=-0.1677;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=0.62;ReadPosRankSum=1.08;SOR=10.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:76,27:103:96:.:.:96,0,1875	15	0	6	0
chr12	4615768	4615768	G	C	exonic	AKAP3	.	nonsynonymous SNV	AKAP3:NM_001278309:exon6:c.C2533G:p.L845V	.	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.896	P	0.526	P	0.000	D	1.000	N	2.425	M	2.49	T	-0.970	T	0.062	T	0.785	3.566	18.18	5.8	2.738	3.342	13.190	0.224	0.00528622283595	0.0002	.	0.0008	0	0.0003	0	0	0.0010	0	0.0014	0.0006145	95	154602	rs151200001	0.0004	0.0004	0.0004	0.0005	0.0020	0.0004	0.0004	0.0017	0.0016	5.974e-05	0.0003	0.0099	0	0	0.0012	0.0001	0.0007	0.0020	0.0002	0.0002	0.0002	0.0003	0.0004	0.0002	0.0002	7.285e-05	3.027e-05	4.81e-05	0	0.0001	0.0075	0	0	0	8.818e-05	0	0.0004	0.078	0.33923	T	0.112	0.37037	T	0.896	0.49324	P	0.526	0.48415	P	0.000156	0.49130	D	0.000000	0.551603	0.31329	N	2.71	0.79292	M	2.49	0.14531	T	-2.4	0.52776	N	0.575	0.64223	-0.9700	0.37200	T	0.062	0.25672	T	10	0.015747458	0.00331	T	0.005286	0.13494	T	0.224	0.52174	.	.	0.468834750356	0.46508	0.6717511988305197	0.67113	0.573917383262	0.53435	0.507369279861	0.39855	T	0.065623	0.32737	T	-0.213999	0.18820	T	-0.11025	0.62591	T	0.182967045438059	0.19421	T	0.727827	0.34232	T	0.4146653	0.61735	0.49875617	0.71018	0.4146653	0.61735	0.49875617	0.71019	-4.259	0.27598	T	.	.	0.254	0.48918	B	.;.	.;.	3.584871	0.50557	23.0	0.99762566633250338	0.85172	0.77178	0.37918	D	AEFBI	0.483704	0.52403	N	0.58310557368247	0.72122	5.756062	0.606942783276932	0.75442	6.311426	0.0765668961549566	0.15732	0.372202	0.05800	0	0.379588	0.06130	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	5.8	5.8	0.92081	3.419000	0.52486	8.462000	0.77247	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:0.1598:0.8402:0.0	13.190	0.59125	677	0.60274	A-kinase anchor 110kDa, C-terminal;A-kinase anchor 110kDa, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1158.98	33	chr12	4615768	.	G	C	1158.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.102e+00;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=0.606;SOR=0.675	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,106,1330	20	0	1	0
chr12	4627001	4627001	G	A	exonic	AKAP3	.	nonsynonymous SNV	AKAP3:NM_001278309:exon5:c.C1901T:p.A634V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.033	B	0.007	B	0.274	N	1.000	N	0	N	3.15	T	-0.985	T	0.013	T	0.093	0.101	4.545	4.79	1.392	2.826	8.311	0.069	0.00400333667966	7.7e-05	0.000199681	4.142e-05	0	0	0.0001	0	4.525e-05	0	6.071e-05	4.53e-05	7	154602	rs146374513	5.199e-05	5.199e-05	5.173e-05	5.226e-05	6.205e-05	4.258e-05	3.888e-05	4.987e-05	4.568e-05	2.987e-05	2.237e-05	0	2.519e-05	0	0	6.205e-05	4.967e-05	1.159e-05	2.627e-05	2.625e-05	3.855e-05	1.343e-05	0.0002	8.14e-06	5.14e-06	.	.	2.407e-05	0	6.536e-05	0	0	0	0	1.47e-05	0	0.0002	0.034	0.44029	D	0.104	0.38160	T	0.033	0.20350	B	0.007	0.12992	B	0.273631	0.15080	N	0.647916	1	0.08975	N	-0.345	0.03330	N	3.15	0.07820	T	-1.5	0.36586	N	0.051	0.07673	-0.9851	0.33808	T	0.013	0.05081	T	10	0.04192531	0.02893	T	0.004003	0.09493	T	0.069	0.20116	.	.	0.401753679984	0.39785	0.08117724607568896	0.08052	0.158344896958	0.17885	0.27835637331	0.07265	T	0.005722	0.05169	T	-0.440909	0.01278	T	-0.701983	0.05718	T	0.105350151658058	0.12935	T	0.627137	0.24302	T	0.06039646	0.12388	0.07811991	0.17466	0.06039646	0.12387	0.07811991	0.17466	-3.587	0.17669	T	.	.	0.103	0.18622	B	.;.	.;.	1.856395	0.23579	16.07	0.97453589213050906	0.34043	0.25316	0.22662	N	AEFGBI	0.172485	0.29952	N	-0.710039211234625	0.15738	0.7958294	-0.64518127868233	0.18339	0.9791921	0.0998669119453972	0.16340	0.549168	0.22868	0	0.610034	0.51514	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	5.69	4.79	0.60909	2.890000	0.48308	1.898000	0.29563	0.676000	0.76740	0.043000	0.21118	0.801000	0.26950	0.001000	0.02609	0.0822:0.1579:0.7598:0.0	8.311	0.31229	680	0.59965	A-kinase anchor 110kDa, C-terminal;A-kinase anchor 110kDa, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2135.98	81	chr12	4627001	.	G	A	2135.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.800e-02;DP=2107;ExcessHet=0.0000;FS=0.591;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=-7.700e-02;SOR=0.766	GT:AD:DP:GQ:PL	0/0:129,0:129:99:0,120,1800	20	0	1	0
chr12	4720831	4720831	C	T	exonic	GALNT8	.	nonsynonymous SNV	GALNT8:NM_017417:exon1:c.C154T:p.R52C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.975	D	0.248	B	0.000	N	1.000	N	1.1	L	0.59	T	-0.964	T	0.098	T	0.296	1.879	12.24	-1.99	-0.499	-0.879	2.346	0.176	0.0136257166009	0.0002	0.000199681	0.0001	0.0003	0.0003	0	0	8.99e-05	0	0.0002	0.0001164	18	154602	rs201036640	5.55e-05	5.541e-05	4.364e-05	6.747e-05	0.0004	4.55e-05	4.162e-05	0.0003	0.0002	0.0004	0.0002	0	0	0	0.0003	2.252e-05	9.952e-05	0.0003	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	0.0004	0	0.0001	0	0	0	0.0034	7.351e-05	0	0.0004	0.027	0.46513	D	0.018	0.59732	D	0.975	0.58077	D	0.248	0.38946	B	0.000012	0.00162	N	16.631100	1	0.08975	N	1.39	0.34934	L	0.59	0.53943	T	-0.7	0.19933	N	0.19	0.20793	-0.9640	0.38409	T	0.098	0.36548	T	10	0.03996235	0.02526	T	0.013626	0.33179	T	0.176	0.44373	.	.	0.255270683199	0.25152	0.08313785579429908	0.08248	0.241717777176	0.26693	0.203452259302	0.00564	T	0.001179	0.00676	T	-0.439297	0.01306	T	-0.514762	0.20827	T	0.0439239709699144	0.04406	T	0.40026	0.10182	T	0.0660479	0.14174	0.058480673	0.10815	0.0660479	0.14173	0.058480673	0.10814	-7.015	0.54143	T	.	.	0.143	0.31507	B	.	.	0.959776	0.13364	9.867	0.98543705095108169	0.42757	0.00103	0.00666	N	AEFDGBIJ	0.025324	0.01716	N	-0.903169058424963	0.10767	0.5161817	-1.09719212802666	0.07755	0.3784927	0.998372726500995	0.36850	0.59774	0.34471	0	0.563428	0.19063	0	0.488094	0.07640	1	0.63947	0.58350	0	.	.	3.74	-1.99	0.07047	-0.848000	0.04435	-0.840000	0.07221	-0.780000	0.03343	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3746:0.2398:0.0:0.3855	2.346	0.04010	653	0.62661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	672.98	37	chr12	4720831	.	C	T	672.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=784;ExcessHet=0.0000;FS=0.997;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.85;ReadPosRankSum=1.12;SOR=0.938	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1575	20	0	1	0
chr12	5044982	5044982	C	T	exonic	KCNA5	.	nonsynonymous SNV	KCNA5:NM_002234:exon1:c.C835T:p.R279C,	Atrial fibrillation, familial, 7, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2251173	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.023	B	0.018	B	.	.	0.992	N	1.545	L	-0.06	T	-0.843	T	0.193	T	0.294	1.205	9.894	3.87	1.226	-0.392	9.024	0.085	0.168846408637	.	.	6.626e-05	0	0	0	0	0	0.0011	0.0004	5.17e-05	8	154602	rs763439502	1.232e-05	1.368e-05	8.17e-06	1.651e-05	0.0002	7.7e-06	6.35e-06	0.0001	0.0001	0	0	0	0	0	0	0	0	0.0002	6.584e-06	6.568e-06	0	1.348e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.72154	D	0.054	0.47097	T	0.023	0.18885	B	0.018	0.18489	B	.	.	.	.	0.992159	0.23927	N	2.355	0.67662	M	-0.06	0.63568	T	-3.8	0.71762	D	0.558	0.58287	-0.8431	0.52440	T	0.193	0.54667	T	9	0.27820075	0.45389	T	0.168846	0.84683	D	0.085	0.24743	0.4	0.42917	0.703541663794	0.70096	0.8666820232062312	0.86633	1.2193180572	0.81043	0.735889732838	0.72368	T	0.821313	0.95634	D	-0.303833	0.08303	T	-0.378019	0.35955	T	0.443026463904225	0.30541	T	0.962604	0.86052	D	0.30696458	0.53522	0.34714442	0.60372	0.30696458	0.53522	0.34714442	0.60372	-8.748	0.66060	D	.	.	0.426	0.60973	A	.	.	2.456173	0.31631	18.80	0.99312630196579166	0.59055	0.18032	0.20091	N	AEFBI	0.247773	0.36829	N	-0.406583281520843	0.25238	1.368576	-0.336757898574932	0.26922	1.49035	0.0440509369142332	0.14595	0.582742	0.33608	0	0.563428	0.19063	0	0.61531	0.40942	0	0.542086	0.14980	0	.	.	4.77	3.87	0.43823	-0.225000	0.09156	0.720000	0.21004	0.524000	0.24156	0.000000	0.06391	0.188000	0.23474	0.102000	0.18378	0.2765:0.5838:0.1397:0.0	9.024	0.35382	680	0.59965	Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3922.98	33	chr12	5044982	.	C	T	3922.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.177;DP=1161;ExcessHet=0.0000;FS=4.393;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.74;ReadPosRankSum=0.735;SOR=0.899	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,996	20	0	1	0
chr12	5635169	5635169	T	C	exonic	ANO2	.	nonsynonymous SNV	ANO2:NM_001364791:exon16:c.A1799G:p.K600R	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.0	B	0.002	B	0.028	N	0.561	D	-0.67	N	-0.07	T	-1.020	T	0.045	T	0.15	0.896	8.640	4.06	1.024	0.130	11.653	0.098	0.00877749541479	0.0016	0.00219649	0.0007	0.0065	0.0003	0	0	0.0001	0.0013	0.0001	0.000608	94	154602	rs112073363	0.0003	0.0003	0.0003	0.0003	0.0075	0.0003	0.0002	0.0067	0.0064	0.0075	0.0004	0	0	0	0.0023	7.449e-05	0.0008	3.741e-05	0.0018	0.0018	0.0018	0.0018	0.0060	0.0016	0.0015	0.0054	0.0051	0.0060	0	0.0005	0	0	0	0.0068	0.0002	0.0009	0	0.068	0.35726	T	0.448	0.15157	T	.	.	.	.	.	.	0.028190	0.25640	N	0.466178	0.560984	0.32213	D	.	.	.	-0.1	0.64264	T	-1.12	0.28906	N	0.246	0.27910	-1.0198	0.23780	T	0.045	0.19152	T	10	0.0077706575	0.00177	T	0.008777	0.23172	T	0.098	0.28162	.	.	0.0401082797425	0.02173	0.46310132564659895	0.46229	0.0541873266677	0.05984	0.470216095448	0.34709	T	0.074863	0.35040	T	-0.494503	0.00614	T	-0.479509	0.24498	T	0.00932649370484882	0.00119	T	0.512749	0.22785	T	.	.	.	.	.	.	.	.	-3.206	0.12554	T	.	.	0.074	0.06710	B	.;.;.;.	.;.;.;.	2.440401	0.31407	18.73	0.95187178605611078	0.26364	0.30133	0.24003	N	AEFDBHI	0.175224	0.30238	N	-0.72066142126557	0.15441	0.7782281	-0.525613103721228	0.21458	1.160949	0.994804911296765	0.33809	0.460665	0.09802	0	0.59043	0.45803	0	0.602189	0.34648	0	0.636168	0.56350	0	.	.	5.2	4.06	0.46572	0.050000	0.14004	2.468000	0.32884	0.573000	0.29008	0.019000	0.19563	0.998000	0.33993	0.777000	0.36790	0.0:0.0:0.1582:0.8418	11.653	0.50559	946	0.12043	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1157.98	35	chr12	5635169	.	T	C	1157.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.330e-01;DP=814;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.73;ReadPosRankSum=1.44;SOR=0.734	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1249	20	0	1	0
chr12	5744308	5744308	C	T	exonic	ANO2	.	nonsynonymous SNV	ANO2:NM_001278596:exon12:c.G1203A:p.M401I	.	.	431	1087	3	1	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.285	B	0.155	B	0.000	D	1.000	D	-0.475	N	0.19	T	-1.020	T	0.023	T	0.241	0.610	7.285	5.25	2.619	5.152	18.203	0.130	.	0.0002	0.0145767	0.0059	0.0004	0.0410	0.0243	0	0.0002	0.0067	0.0005	0.0061383	949	154602	rs17788563	0.0024	0.0024	0.0025	0.0023	0.0417	0.0023	0.0023	0.0401	0.0395	0.0004	0.0417	0.0009	0.0302	0	0.0007	0.0001	0.0033	0.0009	0.0050	0.0050	0.0043	0.0057	0.0361	0.0047	0.0046	0.0336	0.0326	0.0004	0	0.0361	0.0009	0.0282	0	0	0.0003	0.0052	0.0019	0.973	0.02039	T	1.0	0.01155	T	.	.	.	.	.	.	0.000000	0.84330	D	0.075144	0.999998	0.58761	D	.	.	.	0.19	0.60236	T	-1.48	0.36189	N	0.218	0.25745	-1.0197	0.23812	T	0.023	0.09696	T	10	0.009018868	0.00204	T	.	.	.	0.130	0.35528	.	.	0.261217442401	0.25729	0.4313143766597711	0.43048	0.383352055737	0.39662	0.57566100359	0.49474	T	0.095288	0.39589	T	-0.463724	0.00931	T	-0.409607	0.32270	T	0.0496943336848909	0.05446	T	0.938506	0.76886	D	.	.	.	.	.	.	.	.	-5.517	0.42027	T	.	.	0.678	0.72066	P	.;.;.	.;.;.	3.845110	0.55667	23.6	0.82424548087909266	0.14185	0.93431	0.58198	D	AEFBI	0.725708	0.67461	D	-0.19560152087579	0.33316	1.88882	0.0435887377717469	0.41763	2.514507	0.999999758803633	0.74766	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.636168	0.56350	0	.	.	5.25	5.25	0.73169	4.247000	0.58542	7.550000	0.60255	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	18.203	0.89779	913	0.21160	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1366.98	34	chr12	5744308	.	C	T	1366.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.690e-01;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.94;ReadPosRankSum=0.045;SOR=0.708	GT:AD:DP:GQ:PL	0/1:66,59:125:99:1381,0,1610	20	0	1	0
chr12	5922652	5922652	G	A	exonic	ANO2	.	nonsynonymous SNV	ANO2:NM_001278596:exon2:c.C175T:p.P59S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.002	B	0.006	B	0.751	N	1.000	N	0.69	N	-0.01	T	-1.016	T	0.112	T	0.073	1.209	9.911	0.179	-0.084	-0.426	6.015	0.008	0.0151043780542	0.0002	.	0.0005	0.0011	0.0023	0	0	0	0	0.0009	8.41e-05	13	154602	rs371280202	6.134e-05	6.362e-05	3.665e-05	8.663e-05	0.0010	5.084e-05	4.688e-05	0.0008	0.0007	0.0001	0	0	0	0	0	9.225e-07	3.433e-05	0.0010	4.603e-05	4.598e-05	6.426e-05	2.693e-05	0.0002	2.111e-05	1.528e-05	6.293e-05	4.306e-05	0.0001	0	0	0	0	0	0	0	0	0.0002	0.756	0.03523	T	0.922	0.24193	T	.	.	.	.	.	.	0.751370	0.09697	N	0.830806	1	0.08975	N	.	.	.	-0.01	0.62762	T	0.29	0.04161	N	0.13	0.17553	-1.0156	0.25143	T	0.112	0.40075	T	10	0.01394105	0.00294	T	0.015104	0.35634	T	0.008	0.00669	.	.	0.0401082797425	0.02173	0.11310854304576118	0.11238	0.0594397015011	0.06608	0.2716165483	0.06353	T	0.082102	0.36751	T	-0.560495	0.00252	T	-0.628329	0.10541	T	0.00478437020803889	0.00051	T	0.468753	0.13831	T	.	.	.	.	.	.	.	.	-3.568	0.17395	T	.	.	0.069	0.03060	B	.;.;.	.;.;.	-0.146924	0.03372	0.602	0.92048317243695077	0.21391	0.06026	0.11993	N	AEFDBCI	0.047118	0.07899	N	-1.20245101539936	0.04964	0.2252183	-1.23238762734265	0.05397	0.2570497	0.0155752867684404	0.12730	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.508809	0.08732	0	.	.	3.48	0.179	0.14347	-0.899000	0.04209	-0.856000	0.07159	0.494000	0.22454	0.000000	0.06391	0.000000	0.08366	0.054000	0.15518	0.1244:0.4904:0.3852:0.0	6.015	0.18825	923	0.18507	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1039.98	36	chr12	5922652	.	G	A	1039.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.21;DP=795;ExcessHet=0.0000;FS=13.435;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.33;ReadPosRankSum=0.899;SOR=2.215	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,972	20	0	1	0
chr12	5952498	5952498	C	T	exonic	VWF	.	nonsynonymous SNV	VWF:NM_000552:exon49:c.G8008A:p.G2670S,	von Willebrand disease, type 1, Autosomal dominant;von Willebrand disease, types 2A, 2B, 2M, and 2N, Autosomal recessive, Autosomal dominant;von Willibrand disease, type 3, Autosomal recessive	.	0	1515	5	2	0	9	0.0029615	.	.	1696197	von_Willebrand_disease_type_1	MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.002	N	1.000	D	2.185	M	1.36	T	-0.672	T	0.229	T	0.454	3.169	16.60	5.36	2.664	5.562	16.919	0.324	0.0680108071434	.	.	1.662e-05	0	0	0	0	1.508e-05	0	6.153e-05	1.29e-05	2	154602	rs746890802	6.157e-06	6.156e-06	6.807e-06	5.501e-06	4.638e-05	2.9e-06	2.1e-06	1.583e-05	9.3e-06	0	0	0	0	0	0	3.597e-06	1.656e-05	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.001620	0.38497	N	0.000000	1	0.81001	D	3.08	0.87267	M	1.36	0.34452	T	-1.78	0.42001	N	0.566	0.58968	-0.6721	0.61733	T	0.229	0.59472	T	10	0.6733493	0.70845	D	0.068011	0.70330	D	0.324	0.64624	0.46	0.52753	0.832200640711	0.83060	0.857853137591115	0.85748	0.889460143212	0.70153	0.404747903347	0.25729	T	0.402356	0.75941	T	-0.097208	0.36887	T	-0.276779	0.47135	T	0.926382839679718	0.58864	D	0.926807	0.73035	D	0.1767578	0.38605	0.16763467	0.38662	0.1767578	0.38604	0.16763467	0.38661	-4.87	0.35396	T	0.64595562711054	0.71736	0.105	0.19235	B	.	.	4.682070	0.74937	26.2	0.99302091377747237	0.58686	0.90002	0.50847	D	AEFBCI	0.887853	0.82045	D	0.701365434973133	0.79721	7.138046	0.645350416251779	0.78264	6.841476	0.999899224578707	0.45129	0.631515	0.41029	0	0.563428	0.19063	0	0.602189	0.34648	0	0.741806	0.99463	0	.	.	5.36	5.36	0.76624	5.943000	0.69923	7.570000	0.60688	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.687000	0.33748	0.0:1.0:0.0:0.0	16.919	0.86029	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1083.98	43	chr12	5952498	.	C	T	1083.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.264e+00;DP=848;ExcessHet=0.0000;FS=4.835;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.68;ReadPosRankSum=1.41;SOR=1.161	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr12	6019103	6019103	C	T	exonic	VWF	.	nonsynonymous SNV	VWF:NM_000552:exon28:c.G4315A:p.V1439M,	von Willebrand disease, type 1, Autosomal dominant;von Willebrand disease, types 2A, 2B, 2M, and 2N, Autosomal recessive, Autosomal dominant;von Willibrand disease, type 3, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	1325520	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.185	B	0.073	B	0.416	N	0.932	D	3.28	M	-1.7	D	-0.252	T	0.514	D	0.822	0.432	6.344	-1.93	-0.114	0.514	5.159	0.560	0.747992736843	0.0014	0.00139776	0.0009	0.0047	0.0002	0	0.0053	0.0002	0.0011	0.0006	0.0007568	117	154602	rs150077670	0.0004	0.0004	0.0003	0.0004	0.0045	0.0003	0.0003	0.0039	0.0037	0.0045	0.0002	7.653e-05	7.557e-05	0.0045	0.0003	3.418e-05	0.0005	0.0008	0.0022	0.0022	0.0020	0.0024	0.0057	0.0020	0.0019	0.0051	0.0049	0.0057	0	0.0004	0	0	0.0065	0	0.0002	0.0009	0.0019	0.011	0.55530	D	0.012	0.63918	D	0.185	0.29232	B	0.073	0.28123	B	0.416252	0.12930	N	0.637662	0.996713	0.22926	N	3.07	0.87108	M	-1.7	0.83072	D	-0.92	0.24676	N	0.19	0.20793	-0.2516	0.76316	T	0.514	0.81768	D	10	0.02357778	0.00621	T	0.747993	0.97988	D	0.560	0.81946	.	.	0.486135451721	0.48247	0.5519343579956127	0.55119	0.282756110662	0.30728	0.60293006897	0.53318	T	0.430885	0.77920	T	-0.0988191	0.36622	T	0.0859551	0.75976	D	0.0229781479886053	0.01021	T	0.915608	0.69895	D	0.2791891	0.50970	0.22229934	0.47069	0.2791891	0.50970	0.22229934	0.47068	-4.357	0.28968	T	0.15720669289023345	0.18968	0.115	0.23041	B	.	.	1.422968	0.18399	13.72	0.98379328117137788	0.40832	0.15732	0.19055	N	AEFDBI	0.313192	0.41841	N	-0.611550576550994	0.18597	0.9667415	-0.780273136121086	0.14978	0.7854872	0.531326126293086	0.21178	0.67177	0.52595	0	0.59043	0.45803	0	0.547309	0.15389	0	0.711	0.71501	0	.	.	4.35	-1.93	0.07180	0.524000	0.22648	-0.378000	0.09560	0.594000	0.32500	0.106000	0.22914	0.000000	0.08366	0.185000	0.21450	0.2261:0.1802:0.5091:0.0846	5.159	0.14376	952	0.10565	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3243.98	38	chr12	6019103	.	C	T	3243.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=2444;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.83;MQRankSum=-1.791e+00;QD=12.98;ReadPosRankSum=-1.500e+00;SOR=0.695	GT:AD:DP:GQ:PL	0/0:125,0:125:99:0,120,1800	20	0	1	0
chr12	6317909	6317909	G	T	exonic	PLEKHG6	.	nonsynonymous SNV	PLEKHG6:NM_001144857:exon9:c.G728T:p.G243V	.	.	418	1057	43	4	0	51	0.0235566	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.977	D	0.786	P	0.000	D	1.000	D	1.79	L	-0.26	T	-0.524	T	0.340	T	0.614	3.168	16.60	4.67	2.423	3.700	12.954	0.213	.	0.0002	0.00199681	0.0046	0	0.0035	0	0	0.0013	0	0.0126	0.0014618	226	154602	rs71584814	0.0010	0.0010	0.0006	0.0013	0.0138	0.0009	0.0009	0.0114	0.0105	6.164e-05	0.0003	3.962e-05	5.382e-05	1.996e-05	0.0138	0.0003	0.0014	0.0111	0.0007	0.0007	0.0005	0.0009	0.0106	0.0006	0.0005	0.0083	0.0074	7.213e-05	0	0.0007	0	0	0	0.0170	0.0004	0.0014	0.0106	0.28	0.19710	T	0.018	0.60337	D	0.977	0.58535	D	0.786	0.57542	P	0.000206	0.47681	D	0.143878	0.999998	0.58761	D	2.3	0.65703	M	-0.26	0.67187	T	-2.41	0.52938	N	0.404	0.44474	-0.5236	0.67781	T	0.340	0.70575	T	10	0.0068933964	0.00157	T	.	.	.	0.213	0.50496	.	.	0.459009637647	0.45527	0.48088555628630786	0.48008	0.206603004611	0.23089	0.330310881138	0.14981	T	0.024029	0.18233	T	-0.288477	0.09790	T	-0.177759	0.56730	T	0.0231155255477237	0.01037	T	0.831917	0.49916	T	0.29835245	0.52757	0.21587262	0.46193	0.29835245	0.52756	0.21587262	0.46192	-4.133	0.25775	T	.	.	0.164	0.37121	B	.;.;.;.	.;.;.;.	3.710489	0.52968	23.3	0.99443036195137824	0.64870	0.93127	0.57397	D	AEFBHCI	0.632805	0.61328	D	0.203775369848775	0.51383	3.319881	0.249164755487107	0.52603	3.433988	0.999999999964985	0.74766	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.67	4.67	0.58089	3.888000	0.55917	4.309000	0.42963	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.0:0.0:1.0:0.0	12.954	0.57815	898	0.25240	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1467.98	38	chr12	6317909	.	G	T	1467.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.137e+00;DP=908;ExcessHet=0.0000;FS=0.686;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=-6.200e-02;SOR=0.695	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr12	6388415	6388415	G	T	exonic	LTBR	.	nonsynonymous SNV	LTBR:NM_001270987:exon7:c.G628T:p.A210S	.	.	383	1106	32	1	0	34	0.015138	.	.	725226	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.37	T	0.447	B	0.063	B	0.054	N	1.000	D	1.95	M	-2.19	D	-0.575	T	0.406	T	0.169	1.132	9.615	0.667	0.285	1.239	3.119	0.298	.	0.0044	0.00419329	0.0052	0.0012	0.0048	0.0001	0.0006	0.0055	0.0122	0.0107	0.0049999	773	154602	rs41332645	0.0059	0.0060	0.0058	0.0061	0.0105	0.0058	0.0058	0.0100	0.0097	0.0008	0.0036	0.0057	2.519e-05	0.0004	0.0087	0.0063	0.0060	0.0105	0.0040	0.0040	0.0041	0.0039	0.0083	0.0038	0.0037	0.0063	0.0055	0.0009	0.0044	0.0046	0.0046	0.0002	0.0002	0.0170	0.0062	0.0057	0.0083	0.14	0.25664	T	0.156	0.32040	T	0.447	0.36006	B	0.063	0.27082	B	0.053605	0.02051	N	2.323050	1	0.81001	D	2.31	0.66127	M	-2.2	0.86888	D	-0.45	0.14782	N	0.351	0.39254	-0.5753	0.65804	T	0.406	0.75600	T	10	0.01009208	0.00226	T	.	.	.	0.298	0.61843	.	.	0.788720867514	0.78676	0.700720663021327	0.70013	0.186489258796	0.20959	0.357159256935	0.18971	T	0.135537	0.46740	T	-0.351091	0.04659	T	-0.269133	0.47908	T	0.0104986879931563	0.00145	T	0.682032	0.29067	T	0.032337707	0.03241	0.041256744	0.04647	0.032337707	0.03241	0.041256744	0.04647	-3.886	0.22813	T	.	.	0.121	0.25000	B	.;.	.;.	2.344849	0.30055	18.32	0.96384255400607333	0.29630	0.63326	0.32055	D	AEFGBHCI	0.485854	0.52527	N	-0.571582043788752	0.19811	1.039836	-0.531999366364972	0.21286	1.150795	0.999998040825816	0.74766	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.03	0.667	0.17076	1.393000	0.34106	3.628000	0.39306	-0.148000	0.12190	1.000000	0.71638	1.000000	0.68203	0.109000	0.18697	0.0938:0.3095:0.4171:0.1796	3.119	0.06002	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1199.98	44	chr12	6388415	.	G	T	1199.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.309;DP=870;ExcessHet=0.0000;FS=1.550;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=-3.700e-01;SOR=0.869	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1439	20	0	1	0
chr12	6450607	6450607	G	A	exonic	CD27	.	nonsynonymous SNV	CD27:NM_001242:exon4:c.G515A:p.R172Q,	Lymphoproliferative syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3081235	Lymphoproliferative_syndrome_2	MONDO:MONDO:0014054,MedGen:C3554540,OMIM:615122,Orphanet:238505	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.62	T	0.305	B	0.019	B	0.000	N	1.000	N	0.345	N	-3.37	D	-0.296	T	0.572	D	0.095	1.859	12.17	2.48	0.767	0.908	8.719	0.226	0.0396682984233	.	.	8.29e-06	0	0	0	0	1.508e-05	0	0	6.5e-06	1	154602	rs763988270	1.849e-05	1.915e-05	2.044e-05	1.652e-05	5.974e-05	1.266e-05	1.085e-05	1.377e-05	1.15e-05	5.974e-05	0	0	0	0	0	2.068e-05	3.313e-05	0	3.942e-05	3.94e-05	7.706e-05	0	7.349e-05	1.715e-05	1.129e-05	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0.0005	0	0.475	0.08359	T	0.312	0.19599	T	0.305	0.32678	B	0.019	0.18783	B	0.000000	0.00162	N	54.432000	0.999905	0.19694	N	0	0.06538	N	-3.37	0.94114	D	0.47	0.03090	N	0.153	0.15749	-0.2957	0.75105	T	0.572	0.84512	D	10	0.09441373	0.16787	T	0.039668	0.58940	D	0.226	0.52472	.	.	0.88810752731	0.88700	0.2143644944392976	0.21352	0.230560478565	0.25603	0.224591434002	0.01592	T	0.220307	0.58355	T	-0.203137	0.20352	T	-0.347422	0.39500	T	0.0504432744631678	0.05577	T	0.380262	0.09172	T	0.050296616	0.09065	0.05334776	0.08968	0.050296616	0.09065	0.05334776	0.08968	-3.308	0.13841	T	0.12329539721391135	0.11929	0.081	0.08081	B	.	.	1.761422	0.22403	15.61	0.94054232214854261	0.24184	0.06586	0.12601	N	AEFDGBCI	0.102065	0.20484	N	-1.08696666152623	0.06882	0.3181163	-1.07829390339535	0.08128	0.3983131	0.99999612747562	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.78367	0.99111	0	0.605231	0.38476	0	.	.	3.39	2.48	0.29194	0.917000	0.28286	1.652000	0.27851	-0.177000	0.10537	0.001000	0.13787	0.002000	0.18203	0.005000	0.06747	0.0:0.7596:0.2404:0.0	8.719	0.33589	861	0.33516	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	783.98	33	chr12	6450607	.	G	A	783.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.23;DP=788;ExcessHet=0.0000;FS=0.954;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=-2.117e+00;SOR=0.559	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr12	6451375	6451375	C	G	exonic	CD27	.	nonsynonymous SNV	CD27:NM_001242:exon6:c.C766G:p.P256A,	Lymphoproliferative syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	926719	Lymphoproliferative_syndrome_2	MONDO:MONDO:0014054,MedGen:C3554540,OMIM:615122,Orphanet:238505	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.793	P	0.283	B	0.043	N	0.990	N	1.905	M	-3.7	D	0.073	D	0.815	D	0.251	2.251	13.49	3.18	0.938	1.225	7.568	0.219	0.0590352389059	.	.	8.336e-06	0	0	0	0	1.519e-05	0	0	6.5e-06	1	154602	rs751930967	6.16e-06	6.156e-06	9.534e-06	2.752e-06	7.195e-06	2.9e-06	2.1e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.195e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.082	0.41573	T	0.793	0.44725	P	0.283	0.40424	B	0.042964	0.01913	N	2.274430	0.990219	0.24200	N	1.75	0.45442	L	-3.7	0.95352	D	-1.74	0.41239	N	0.182	0.19728	0.073	0.83682	D	0.815	0.93780	D	10	0.20669204	0.36939	T	0.059035	0.67525	D	0.219	0.51417	0.17	0.07536	0.987335001779	0.98719	0.1530480821452121	0.15226	0.527081435524	0.50316	0.284620076418	0.08146	T	0.443625	0.78734	T	0.0870362	0.62853	D	-0.112755	0.62391	T	0.452060878276825	0.30873	T	0.60264	0.22576	T	0.09087089	0.21277	0.1641595	0.38042	0.09087089	0.21277	0.1641595	0.38041	-2.208	0.04079	T	.	.	0.077	0.06571	B	.	.	2.809198	0.36980	20.4	0.99045116835821234	0.51118	0.35164	0.25238	N	ALL	0.142048	0.26439	N	-0.1371983375187	0.35781	2.059624	-0.217570552914268	0.30906	1.744255	0.999999999994348	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	4.07	3.18	0.35615	1.252000	0.32476	1.264000	0.25249	0.524000	0.24156	0.473000	0.26745	0.421000	0.24807	0.268000	0.23719	0.0:0.8831:0.0:0.1169	7.568	0.27057	861	0.33516	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	912.98	37	chr12	6451375	.	C	G	912.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.508;DP=926;ExcessHet=0.0000;FS=0.969;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.27;ReadPosRankSum=0.156;SOR=0.518	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	20	0	1	0
chr12	6540550	6540550	G	A	exonic	IFFO1	.	nonsynonymous SNV	IFFO1:NM_001330324:exon9:c.C1613T:p.P538L	.	.	416	1069	35	2	0	39	0.0179146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.563	P	0.028	B	0.887	N	0.986	D	0.69	N	-2.27	D	-1.097	T	0.047	T	0.277	3.429	17.59	3.09	1.264	4.359	11.148	0.096	0.0133974944623	0.0035	0.00199681	0.0035	0.0012	0.0026	0	0.0022	0.0042	0.0045	0.0048	0.0030271	468	154602	rs139792267	0.0024	0.0024	0.0022	0.0026	0.0257	0.0024	0.0023	0.0223	0.0210	0.0011	0.0028	0.0213	0	0.0015	0.0257	0.0018	0.0047	0.0039	0.0024	0.0024	0.0025	0.0023	0.0029	0.0022	0.0021	0.0019	0.0018	0.0008	0	0.0024	0.0239	0	0.0022	0.0272	0.0022	0.0085	0.0029	0.013	0.53900	D	0.067	0.44501	T	0.001	0.07471	B	0.001	0.04355	B	0.887219	0.08713	N	0.946895	0.986481	0.40439	D	0	0.06538	N	-2.57	0.90332	D	-0.93	0.25118	N	0.226	0.27673	-1.0969	0.04487	T	0.047	0.19998	T	10	0.005678326	0.00126	T	0.013397	0.32774	T	0.138	0.37187	.	.	0.751694653358	0.74944	0.7574403315536291	0.75692	0.545570971901	0.51584	0.456590890884	0.32844	T	0.018523	0.14916	T	-0.278165	0.10863	T	-0.172349	0.57228	T	0.0236246190789405	0.01098	T	0.808019	0.47619	T	0.05590625	0.10929	0.056011453	0.09932	0.05590625	0.10928	0.056011453	0.09931	-4.361	0.29023	T	.	.	0.072	0.07841	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.094287	0.60998	24.3	0.99615930279789366	0.75112	0.32711	0.24652	N	ALL	0.621563	0.60621	D	0.034920992093561	0.43451	2.637636	0.0985941487877732	0.44478	2.72883	0.999999999989447	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.594344	0.31042	0	0.591603	0.36755	0	.	.	3.98	3.09	0.34677	4.472000	0.59921	6.748000	0.56502	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0885:0.0:0.9115:0.0	11.148	0.47667	740	0.53092	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	877.98	36	chr12	6540550	.	G	A	877.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.523;DP=772;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=1.76;SOR=0.602	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1255	20	0	1	0
chr12	6667913	6667918	TGCTGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1187del:p.Q399_Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	0/2:23,0,29,0,0:52:99:964,1033,1909,0,876,787,1033,1909,876,1909,1033,1909,876,1909,1909	0	0	0	0
chr12	6667916	6667918	TGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1184del:p.Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	0/2:23,0,29,0,0:52:99:964,1033,1909,0,876,787,1033,1909,876,1909,1033,1909,876,1909,1909	0	0	0	0
chr12	6667918	6667918	-	TGC	exonic	ZNF384	.	nonframeshift insertion	ZNF384:NM_001039920:exon9:c.1181_1182insGCA:p.Q400_P401insQ	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	0/2:23,0,29,0,0:52:99:964,1033,1909,0,876,787,1033,1909,876,1909,1033,1909,876,1909,1909	0	0	0	0
chr12	6667904	6667918	TGCTGCTGCTGCTGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1196del:p.Q396_Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169898408	0.0003	0.0004	0.0003	0.0004	0.0008	0.0003	0.0003	0.0006	0.0006	0.0004	0.0003	3.944e-05	0.0002	0	0.0004	0.0003	0.0004	0.0008	0.0002	0.0002	0.0002	0.0002	0.0013	0.0002	0.0001	0.0006	0.0004	0.0002	0	0	0	0	0	0.0035	0.0003	0	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	0/2:23,0,29,0,0:52:99:964,1033,1909,0,876,787,1033,1909,876,1909,1033,1909,876,1909,1909	0	0	0	0
chr12	6775339	6775339	G	A	exonic	LAG3	.	nonsynonymous SNV	LAG3:NM_002286:exon5:c.G848A:p.R283H,	.	.	404	1117	1	0	0	1	0.000447427	.	.	2390598	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.5	T	0.004	B	0.005	B	0.336	N	1.000	N	0.035	N	2.67	T	-0.952	T	0.013	T	0.102	0.431	6.341	-5.45	-0.902	-0.765	9.734	0.024	0.0064506697607	0.0002	0.000199681	8.237e-05	0	0	0.0005	0	7.492e-05	0	6.057e-05	7.76e-05	12	154602	rs201789511	6.977e-05	6.977e-05	6.398e-05	7.563e-05	0.0002	5.846e-05	5.457e-05	8.198e-05	5.784e-05	5.974e-05	0.0001	0	0.0002	3.744e-05	0	6.835e-05	0.0001	2.319e-05	3.939e-05	4.593e-05	5.139e-05	2.686e-05	0.0004	1.714e-05	1.129e-05	6.84e-05	2.862e-05	2.406e-05	0	0	0	0.0004	0	0	4.41e-05	0	0	0.282	0.20381	T	0.764	0.04571	T	0.002	0.09854	B	0.003	0.08700	B	0.336059	0.14037	N	0.692253	0.999921	0.19486	N	-0.425	0.02884	N	2.67	0.12473	T	1.05	0.01314	N	0.14	0.19861	-0.9522	0.40590	T	0.013	0.05321	T	10	0.015864372	0.00333	T	0.006451	0.16985	T	0.024	0.04979	.	.	0.0954503805726	0.09146	0.24293373105549773	0.24207	0.106778675347	0.12062	0.230743840337	0.02023	T	0.125383	0.45105	T	-0.564998	0.00237	T	-0.749033	0.03523	T	0.0177669227957557	0.00505	T	0.721628	0.33490	T	0.025138741	0.01419	0.03612586	0.02998	0.025138741	0.01419	0.03612586	0.02997	-4.012	0.23983	T	.	.	0.061	0.01075	B	.;.	.;.	0.234922	0.06159	2.605	0.71138271652754248	0.09528	0.00616	0.02727	N	AEFDGBI	0.031824	0.03479	N	-1.31839455868656	0.03465	0.1548144	-1.27741559467591	0.04736	0.224145	0.999999703451367	0.74766	0.676563	0.55306	0	0.586065	0.33999	0	0.673471	0.61138	0	0.491896	0.07777	0	.	.	5.55	-5.45	0.02411	-0.961000	0.03955	-2.043000	0.04299	-0.668000	0.04312	0.001000	0.13787	0.000000	0.08366	0.493000	0.28859	0.2806:0.1326:0.5868:0.0	9.734	0.39546	398	0.82839	.;Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1320.98	36	chr12	6775339	.	G	A	1320.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.768;DP=819;ExcessHet=0.0000;FS=0.727;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-9.840e-01;SOR=0.773	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr12	6778256	6778256	-	G	exonic	LAG3	.	frameshift insertion	LAG3:NM_002286:exon8:c.1445dupG:p.F483Ifs*48,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1954.94	35	chr12	6778256	.	C	CG	1954.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.340e-01;DP=828;ExcessHet=0.0000;FS=2.225;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.27;ReadPosRankSum=-4.820e-01;SOR=0.900	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr12	6850587	6850587	A	G	exonic	CDCA3	.	nonsynonymous SNV	CDCA3:NM_001297602:exon3:c.T130C:p.S44P	.	.	416	1046	57	3	0	63	0.0292343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.335	B	0.114	B	0.005	N	0.999	D	2.175	M	.	.	-0.727	T	0.186	T	0.692	4.507	24.2	5.7	2.172	4.142	8.525	0.154	.	0.0011	0.00239617	0.0042	0.0004	0.0040	0.0001	0	0.0011	0.0066	0.0231	0.003564	551	154602	rs150858074	0.0018	0.0019	0.0012	0.0025	0.0224	0.0018	0.0018	0.0216	0.0212	8.961e-05	0.0018	0.0013	2.519e-05	3.744e-05	0.0097	0.0004	0.0022	0.0224	0.0012	0.0012	0.0009	0.0015	0.0208	0.0010	0.0010	0.0175	0.0163	7.249e-05	0	0.0004	0.0020	0	9.468e-05	0.0034	0.0008	0.0009	0.0208	0.003	0.68238	D	0.005	0.72224	D	0.335	0.33330	B	0.114	0.31755	B	0.004789	0.33389	N	0.293987	0.986275	0.45182	D	2.455	0.71248	M	.	.	.	-1.81	0.57762	N	0.459	0.54496	-0.7274	0.59094	T	0.186	0.53586	T	9	0.006612748	0.00150	T	.	.	.	0.154	0.40340	.	.	0.431952752558	0.42816	0.45802854476548793	0.45720	0.78041944085	0.65269	0.532909572124	0.43444	T	0.193662	0.54920	T	-0.18533	0.22947	T	-0.021404	0.68936	D	0.0810008470602898	0.10115	T	0.793221	0.43505	T	0.46215984	0.64805	0.5441816	0.73653	0.46215984	0.64806	0.5441816	0.73653	-3.572	0.17453	T	.	.	0.448	0.62097	A	.;.;.;.;.	.;.;.;.;.	4.573058	0.72174	25.8	0.99826152259785705	0.90852	0.90070	0.50964	D	AEFDGBCI	0.816385	0.73813	D	0.245040344701089	0.53393	3.508432	0.361695448431946	0.59215	4.097542	0.999999923949678	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.7	5.7	0.88690	4.046000	0.57088	9.183000	0.79090	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.9142:0.0:0.0858:0.0	8.525	0.32460	564	0.70960	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.04762	1881.11	34	chr12	6850587	.	A	G	1881.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.189;DP=873;ExcessHet=0.1072;FS=2.020;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.34;ReadPosRankSum=-2.600e-01;SOR=0.888	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1256	19	0	2	0
chr12	6855789	6855789	C	A	exonic	USP5	.	nonsynonymous SNV	USP5:NM_001382588:exon2:c.C146A:p.P49Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.978	D	0.862	P	0.000	D	1.000	D	1.525	L	1.93	T	-1.109	T	0.108	T	0.642	3.976	20.4	5.14	2.677	7.320	18.808	0.123	0.0129428964049	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1349602827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.567e-06	1.285e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.314	0.13834	T	0.596	0.16914	T	0.978	0.58756	D	0.862	0.61339	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.44	0.70756	M	1.92	0.23082	T	-1.15	0.41428	N	0.616	0.63204	-1.1085	0.03201	T	0.108	0.39172	T	10	0.36200017	0.52806	T	0.012943	0.31944	T	0.123	0.34020	0.342	0.33464	0.383934971476	0.38010	0.5960132221761137	0.59531	0.820355342577	0.67139	0.624502062798	0.56365	T	0.181644	0.53338	T	0.00962	0.52973	T	-0.223958	0.52355	T	0.941167175769806	0.61416	D	0.926807	0.74365	D	0.19426142	0.41169	0.13857277	0.33091	0.19426142	0.41169	0.13857277	0.33090	-5.772	0.44330	T	.	.	0.256	0.80568	B	.;.;.	.;.;.	3.769455	0.54128	23.4	0.98683580449315289	0.44652	0.99725	0.98989	D	AEFBI	0.899675	0.84433	D	0.574466638930291	0.71583	5.673138	0.602154864825471	0.75096	6.250498	0.999999999984191	0.74766	0.732398	0.92422	0	0.723133	0.82719	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.14	5.14	0.70008	7.388000	0.79070	7.639000	0.63104	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:1.0:0.0:0.0	18.808	0.92011	562	0.71143	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	95.98	34	chr12	6855789	.	C	A	95.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.930e-01;DP=858;ExcessHet=0.0000;FS=38.743;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.68;ReadPosRankSum=0.561;SOR=5.282	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1318	20	0	1	0
chr12	6855791	6855791	C	A	exonic	USP5	.	nonsynonymous SNV	USP5:NM_001382588:exon2:c.C148A:p.P50T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.799	P	0.615	P	0.000	D	1.000	D	2.46	M	1.81	T	-0.944	T	0.133	T	0.721	4.655	25.6	5.14	2.677	7.320	18.808	0.293	0.0190983388437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.004	0.74150	D	0.598	0.44910	P	0.408	0.51231	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.105	0.58435	M	1.8	0.25344	T	-5.61	0.87911	D	0.683	0.73195	-0.9441	0.41960	T	0.133	0.44484	T	10	0.6691886	0.70609	D	0.019098	0.41369	T	0.293	0.61272	0.342	0.33464	0.475375588166	0.47167	0.7578345136441068	0.75731	0.918765570636	0.71367	0.66427052021	0.62020	T	0.700227	0.91362	D	0.0845996	0.62575	D	-0.116255	0.62108	T	0.993655204772949	0.84541	D	0.945605	0.79272	D	0.7458478	0.80628	0.58224964	0.75783	0.7458478	0.80629	0.58224964	0.75783	-6.68	0.52863	T	.	.	0.354	0.82272	A	.;.;.	.;.;.	3.973346	0.58361	24.0	0.99809938144482013	0.89353	0.99725	0.98989	D	AEFBI	0.875273	0.79859	D	0.530194145179642	0.68885	5.279055	0.530638039307535	0.70064	5.45025	0.999999999984191	0.74766	0.732398	0.92422	0	0.723133	0.82719	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.14	5.14	0.70008	7.388000	0.79070	7.639000	0.63104	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	18.808	0.92011	562	0.71143	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	95.98	34	chr12	6855791	.	C	A	95.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.40;DP=957;ExcessHet=0.0000;FS=38.743;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.68;ReadPosRankSum=0.802;SOR=5.282	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1318	20	0	1	0
chr12	6855792	6855792	C	A	exonic	USP5	.	nonsynonymous SNV	USP5:NM_001382588:exon2:c.C149A:p.P50H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.987	D	0.000	D	1.000	D	2.805	M	1.76	T	-0.647	T	0.206	T	0.669	4.789	27.0	5.14	2.677	7.320	18.808	0.344	0.045784293952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.83351	D	1.0	0.90584	D	0.982	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.565	0.75005	M	1.76	0.25996	T	-5.98	0.91522	D	0.721	0.76111	-0.6474	0.62827	T	0.206	0.56499	T	10	0.708569	0.72896	D	0.045784	0.62147	D	0.344	0.66582	0.286	0.24440	0.492788151913	0.48912	0.7158505129971987	0.71528	1.75615773249	0.91047	0.684079766273	0.64855	T	0.66973	0.90183	D	0.0781614	0.61824	D	-0.125503	0.61347	T	0.997639298439026	0.92037	D	0.914708	0.69569	D	0.8373648	0.86420	0.742622	0.84787	0.8373648	0.86421	0.742622	0.84788	-9.419	0.71486	D	.	.	0.533	0.86867	A	.;.;.	.;.;.	4.242257	0.64330	24.7	0.99709834711984857	0.81283	0.99725	0.98989	D	AEFBI	0.887409	0.81963	D	0.81219932581177	0.86865	9.023993	0.730000629561242	0.84655	8.353264	0.999999999984191	0.74766	0.732398	0.92422	0	0.723133	0.82719	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.14	5.14	0.70008	7.388000	0.79070	5.946000	0.51564	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	18.808	0.92011	562	0.71143	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	95.98	34	chr12	6855792	.	C	A	95.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.403e+00;DP=900;ExcessHet=0.0000;FS=38.743;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.68;ReadPosRankSum=0.855;SOR=5.282	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1318	20	0	1	0
chr12	6867505	6867505	T	G	exonic	TPI1	.	nonsynonymous SNV	TPI1:NM_001159287:exon1:c.T50G:p.I17R,	Hemolytic anemia due to triosephosphate isomerase deficiency, Autosomal recessive	.	0	1509	12	1	0	14	0.00461741	.	.	799727	Triosephosphate_isomerase_deficiency|not_provided	MONDO:MONDO:0014221,MedGen:C1860808,OMIM:615512,Orphanet:868|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	.	.	1.000	D	0.55	N	.	.	-0.906	T	0.132	T	0.592	4.072	20.9	4.83	2.026	1.739	9.470	0.212	.	.	0.00379393	0.0061	0.0186	0.0135	0	0.0038	0.0072	0.0144	0.0020	0.0019857	307	154602	rs1800202	0.0029	0.0029	0.0028	0.0030	0.0142	0.0028	0.0028	0.0116	0.0107	0.0077	0.0028	0.0033	0	0.0005	0.0142	0.0030	0.0038	0.0014	0.0038	0.0038	0.0039	0.0036	0.0075	0.0035	0.0034	0.0069	0.0066	0.0075	0	0.0030	0.0032	0	0.0003	0.0102	0.0026	0.0066	0.0010	0.16	0.23721	T	0.107	0.37730	T	.	.	.	.	.	.	.	.	.	.	0.787072	0.34339	D	0	0.06538	N	.	.	.	-0.14	0.09135	N	0.51	0.64648	-0.9062	0.47308	T	0.132	0.44288	T	6	0.008082598	0.00183	T	.	.	.	0.212	0.50341	.	.	0.320526991862	0.31653	0.372608539368895	0.37174	1.55062128731	0.87895	.	.	.	0.338815	0.70804	T	-0.208331	0.19614	T	-0.0663391	0.65887	T	0.0957783388441354	0.11886	T	0.506949	0.16072	T	0.2115633	0.43484	0.3442252	0.60123	0.2115633	0.43484	0.3442252	0.60122	.	.	.	.	.	0.241	0.47535	B	.;.	.;.	2.450291	0.31553	18.78	0.98053470916860053	0.37890	0.93928	0.59599	D	AEDGBHCIJ	0.175372	0.30254	N	0.0823494648003706	0.45642	2.817205	0.162212944011888	0.47791	3.004	0.999999999570313	0.74766	0.006267	0.00052	3	0.093493	0.02558	3	0.47417	0.07244	0	0.273489	0.05413	2	.	.	4.83	4.83	0.61880	2.119000	0.41582	5.668000	0.49244	0.536000	0.24961	1.000000	0.71638	1.000000	0.68203	0.804000	0.37906	0.1977:0.0:0.0:0.8023	9.470	0.38004	645	0.63593	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	642.98	29	chr12	6867505	.	T	G	642.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=746;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.86;ReadPosRankSum=0.956;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1129	20	0	1	0
chr12	6936749	6936749	-	CAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1482_1483insCAG:p.Q502_H503insQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	5/5:0,0,0,0,0,26,0:52:99:.:.:1504,1362,1329,1362,1329,1329,1362,1329,1329,1329,1362,1329,1329,1329,1329,113,112,112,112,112,0,1362,1329,1329,1329,1329,112,1329	1	0	2	0
chr12	6936749	6936749	-	CAGCAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1482_1483insCAGCAG:p.Q502_H503insQQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	5/5:0,0,0,0,0,26,0:52:99:.:.:1504,1362,1329,1362,1329,1329,1362,1329,1329,1329,1362,1329,1329,1329,1329,113,112,112,112,112,0,1362,1329,1329,1329,1329,112,1329	1	0	2	0
chr12	6936747	6936749	CAG	-	exonic	ATN1	.	nonframeshift deletion	ATN1:NM_001007026:exon5:c.1480_1482del:p.Q502del	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	5/5:0,0,0,0,0,26,0:52:99:.:.:1504,1362,1329,1362,1329,1329,1362,1329,1329,1329,1362,1329,1329,1329,1329,113,112,112,112,112,0,1362,1329,1329,1329,1329,112,1329	1	0	2	0
chr12	6936749	6936749	-	CAGCAGCAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1482_1483insCAGCAGCAG:p.Q502_H503insQQQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	5/5:0,0,0,0,0,26,0:52:99:.:.:1504,1362,1329,1362,1329,1329,1362,1329,1329,1329,1362,1329,1329,1329,1329,113,112,112,112,112,0,1362,1329,1329,1329,1329,112,1329	1	0	2	0
chr12	6936741	6936749	CAGCAGCAG	-	exonic	ATN1	.	nonframeshift deletion	ATN1:NM_001007026:exon5:c.1474_1482del:p.Q500_Q502del	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	5/5:0,0,0,0,0,26,0:52:99:.:.:1504,1362,1329,1362,1329,1329,1362,1329,1329,1329,1362,1329,1329,1329,1329,113,112,112,112,112,0,1362,1329,1329,1329,1329,112,1329	1	0	2	0
chr12	7066625	7066625	G	C	exonic	C1S	.	nonsynonymous SNV	C1S:NM_001346850:exon7:c.G478C:p.V160L	C1s deficiency;Ehlers-Danlos syndrome, periodontal type, 2, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	738859	C1S-related_disorder|Complement_component_C1s_deficiency|Ehlers-Danlos_syndrome,_periodontal_type_2|not_provided	.|MONDO:MONDO:0013419,MedGen:C3151078,OMIM:613783|MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.006	B	0.041	B	0.002	N	0.888	N	0.47	N	0.29	T	-1.016	T	0.044	T	0.397	1.254	10.09	2.82	0.331	1.894	7.526	0.150	.	0.0002	0.00299521	0.0003	0.0005	0	0.0025	0	5.998e-05	0	0	0.0003169	49	154602	rs2239170	0.0010	0.0010	0.0010	0.0009	0.0334	0.0009	0.0009	0.0319	0.0313	0.0007	2.237e-05	0	0.0334	0	0.0009	2.446e-05	0.0003	5.806e-05	0.0006	0.0006	0.0006	0.0006	0.0112	0.0005	0.0004	0.0089	0.0080	0.0007	0	0	0	0.0112	0	0	1.47e-05	0	0	0.137	0.25979	T	0.83	0.05685	T	0.006	0.13644	B	0.041	0.23986	B	0.001654	0.38382	N	0.000000	0.887845	0.27935	N	0.395	0.12235	N	0.29	0.58897	T	-0.24	0.10833	N	0.199	0.28028	-1.0158	0.25078	T	0.044	0.19029	T	10	0.0066300035	0.00150	T	.	.	.	0.150	0.39571	.	.	0.530632850524	0.52711	0.2995537523824234	0.29868	0.242998774807	0.26804	0.436232924461	0.30062	T	0.040418	0.25519	T	-0.434291	0.01397	T	-0.352584	0.38908	T	0.00749798443730332	0.00087	T	0.814119	0.46793	T	0.16418761	0.36610	0.12114432	0.29231	0.18638858	0.40044	0.14856558	0.35112	-3.217	0.12689	T	0.3055844114630754	0.40321	0.296	0.52679	B	.;.;.;.;.	.;.;.;.;.	2.253153	0.28784	17.91	0.95691586546147411	0.27569	0.83358	0.42481	D	AEFBI	0.817322	0.73884	D	-0.832790146233257	0.12477	0.6084542	-0.668691653326194	0.17745	0.9449416	0.995733855006593	0.34294	0.614807	0.35715	0	0.610034	0.51514	0	0.616094	0.41390	0	0.530356	0.10902	0	.	.	5.6	2.82	0.32061	2.008000	0.40513	2.910000	0.35502	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.639000	0.32395	0.4176:0.0:0.5824:0.0	7.526	0.26822	707	0.57054	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	969.98	37	chr12	7066625	.	G	C	969.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=772;ExcessHet=0.0000;FS=2.137;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.06;ReadPosRankSum=-8.530e-01;SOR=1.024	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1136	20	0	1	0
chr12	7130691	7130691	G	T	exonic	CLSTN3	.	nonsynonymous SNV	CLSTN3:NM_014718:exon1:c.G43T:p.A15S,	.	.	423	1033	61	5	0	71	0.0332241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.001	B	0.002	B	0.548	N	1.000	D	0.345	N	2.12	T	-1.068	T	0.021	T	0.166	0.113	4.610	2.93	0.442	0.642	6.560	0.021	.	0.0036	0.00658946	0.0098	0.0103	0.0129	0	0	0.0058	0.0121	0.0176	0.0033182	513	154602	rs145190321	0.0031	0.0031	0.0027	0.0036	0.0178	0.0030	0.0030	0.0148	0.0142	0.0076	0.0043	0.0093	0.0001	0.0002	0.0178	0.0019	0.0055	0.0152	0.0044	0.0044	0.0046	0.0042	0.0143	0.0041	0.0040	0.0116	0.0106	0.0080	0.0011	0.0049	0.0095	0.0002	0.0002	0.0204	0.0020	0.0057	0.0143	0.442	0.10148	T	0.415	0.14326	T	0.001	0.07471	B	0.002	0.06944	B	0.548015	0.11466	N	0.788204	1	0.08975	N	-0.895	0.01383	N	2.12	0.19726	T	0.07	0.07736	N	0.139	0.13769	-1.0680	0.09858	T	0.021	0.08778	T	10	0.0030443072	0.00050	T	.	.	.	0.021	0.04004	.	.	0.281547015583	0.27767	0.35854401661910473	0.35768	0.288253582573	0.31233	0.356690347195	0.18903	T	0.008913	0.23664	T	-0.598821	0.00148	T	-0.620618	0.11137	T	0.00108617581757987	0.00010	T	0.331367	0.07351	T	0.055753954	0.10880	0.04894971	0.07378	0.055753954	0.10879	0.04894971	0.07378	-3.093	0.11216	T	.	.	0.066	0.03887	B	.;.	.;.	0.665902	0.10342	7.072	0.62287856607396397	0.06924	0.12591	0.17362	N	AEFDGBCI	0.044641	0.07208	N	-1.19660380079444	0.05051	0.2293829	-1.15269521724595	0.06719	0.3243835	0.999999929559777	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.554799	0.18163	0	.	.	4.77	2.93	0.33092	0.670000	0.24838	1.292000	0.25419	-0.941000	0.02090	0.027000	0.20232	0.033000	0.21346	0.022000	0.11911	0.0:0.7049:0.193:0.1021	6.560	0.21676	668	0.61153	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	826.98	37	chr12	7130691	.	G	T	826.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=758;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=-1.746e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,997	20	0	1	0
chr12	7201782	7201782	C	G	exonic	PEX5	.	nonsynonymous SNV	PEX5:NM_001374647:exon6:c.C583G:p.Q195E	Peroxisome biogenesis disorder 2A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 2B, Autosomal recessive;Rhizomelic chondrodysplasia punctata, type 5, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.055	B	0.036	B	0.000	D	0.993	D	1.04	L	-2.01	D	-0.421	T	0.443	T	0.383	1.502	10.97	5.21	2.593	2.494	13.986	0.264	0.0587695205325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.052	0.49120	T	0.031	0.22733	B	0.013	0.22909	B	0.000306	0.45977	D	0.185361	0.992597	0.41689	D	1.39	0.34934	L	-2.2	0.87038	D	-0.7	0.21860	N	0.249	0.45237	-0.4210	0.71360	T	0.443	0.78039	T	10	0.22714177	0.39587	T	0.05877	0.67435	D	0.264	0.57741	0.354	0.35408	0.786066119495	0.78408	0.32758546421041723	0.32671	0.307891697751	0.33085	0.388164579868	0.23411	T	0.070753	0.56045	T	0.0706692	0.60931	D	-0.136265	0.60441	T	0.582267999649048	0.35706	D	0.938306	0.85427	D	0.124520406	0.29214	0.08392887	0.19269	0.124520406	0.29213	0.08392887	0.19269	-5.677	0.43578	T	.	.	0.087	0.31683	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	1.740586	0.22151	15.50	0.97403951573796188	0.33790	0.95614	0.65428	D	AEFDGBI	0.661768	0.63187	D	-0.272048718578449	0.30233	1.683767	-0.101037201342009	0.35350	2.044032	0.817829475186041	0.24470	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.21	5.21	0.72005	2.946000	0.48742	3.892000	0.40300	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.386000	0.26469	0.1883:0.8117:0.0:0.0	13.986	0.63849	.	.	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	801.98	33	chr12	7201782	.	C	G	801.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.531e+00;DP=773;ExcessHet=0.0000;FS=1.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.81;ReadPosRankSum=1.72;SOR=0.706	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1361	20	0	1	0
chr12	7210125	7210125	C	T	exonic	PEX5	.	nonsynonymous SNV	PEX5:NM_001374648:exon14:c.C1711T:p.R571C	Peroxisome biogenesis disorder 2A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 2B, Autosomal recessive;Rhizomelic chondrodysplasia punctata, type 5, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	489459	Peroxisome_biogenesis_disorder_2B|not_provided	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370,Orphanet:44|MedGen:CN517202	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.988	D	0.000	D	1.000	D	2.675	M	-1.69	D	0.622	D	0.742	D	0.918	4.797	27.1	5.1	2.659	5.914	18.705	0.812	0.187842931052	7.7e-05	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs372635542	1.779e-05	1.779e-05	2.722e-06	3.3e-05	0.0001	1.237e-05	1.051e-05	7.123e-05	5.481e-05	0	0	0	0	0	0	1.259e-05	1.656e-05	0.0001	1.314e-05	1.313e-05	0	2.689e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.973	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.66	0.77858	M	-1.69	0.82985	D	-7.47	0.95394	D	0.931	0.94668	0.622	0.92183	D	0.742	0.91177	D	10	0.91211313	0.90575	D	0.187843	0.85964	D	0.812	0.93931	.	.	0.925969750452	0.92521	0.8564900530578679	0.85612	0.996931653358	0.74268	0.771281838417	0.77617	T	0.87162	0.97232	D	0.245763	0.78202	D	0.351913	0.90391	D	0.933996856212616	0.60115	D	0.997067	0.98870	D	0.9125579	0.92534	0.6779074	0.81081	0.9125579	0.92535	0.6779074	0.81082	-11.08	0.80528	D	.	.	0.917	0.83976	P	.;.;.;.;.;.	.;.;.;.;.;.	5.826710	0.93721	33	0.99942050583078856	0.99824	0.98690	0.85623	D	AEFBI	0.835359	0.75327	D	0.795255192267667	0.85806	8.687988	0.746054290053443	0.85862	8.708891	0.999999981106916	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.1	5.1	0.68917	4.944000	0.63262	7.564000	0.60548	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.732000	0.35165	0.0:1.0:0.0:0.0	18.705	0.91597	.	.	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	953.98	37	chr12	7210125	.	C	T	953.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.342;DP=816;ExcessHet=0.0000;FS=0.794;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.72;ReadPosRankSum=-1.007e+00;SOR=0.582	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr12	7368119	7368119	C	T	exonic	CD163L1	.	nonsynonymous SNV	CD163L1:NM_001297650:exon17:c.G4181A:p.R1394Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.0	B	0.0	B	.	.	1.000	N	0	N	5.02	T	-0.905	T	0.003	T	0.268	-0.027	3.875	0.303	0.054	0.043	3.529	0.075	0.00117197555884	7.7e-05	.	8.272e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs374484836	1.781e-05	1.984e-05	1.5e-05	2.065e-05	2.521e-05	1.239e-05	1.053e-05	1.297e-05	1.108e-05	0	0	0	2.521e-05	0	0	1.982e-05	3.317e-05	1.16e-05	1.975e-05	1.971e-05	2.573e-05	1.348e-05	2.941e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0.0005	0	0.468	0.08534	T	0.469	0.12281	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	5.02	0.01297	T	-0.74	0.22294	N	0.024	0.00445	-0.9053	0.47412	T	0.003	0.00864	T	9	0.040046692	0.02542	T	0.001172	0.01484	T	0.075	0.21907	.	.	0.15556083564	0.15200	0.2541593688217115	0.25329	0.249061306982	0.27473	0.269583106041	0.06087	T	0.002082	0.01490	T	-0.279802	0.10688	T	-0.639692	0.09691	T	0.0239551756651809	0.01139	T	0.444656	0.12411	T	0.027057752	0.01845	0.031802032	0.01821	0.027057752	0.01845	0.031802032	0.01820	-3.716	0.19555	T	.	.	0.079	0.18539	B	.;.	.;.	0.346842	0.07200	3.793	0.26630560833739053	0.01284	0.00018	0.00208	N	AEFBI	0.017826	0.00495	N	-1.3777979272133	0.02847	0.1263008	-1.42538847577552	0.03000	0.1391271	0.335358408605304	0.19528	0.626454	0.40138	0	0.588066	0.40923	0	0.573888	0.23631	0	0.633917	0.49826	0	.	.	1.52	0.303	0.15039	0.039000	0.13770	-0.477000	0.08942	-0.191000	0.09375	0.000000	0.06391	0.000000	0.08366	0.143000	0.20056	0.0:0.2273:0.0:0.7727	3.529	0.07327	769	0.49307	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	625.98	36	chr12	7368119	.	C	T	625.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.22;DP=722;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.23;ReadPosRankSum=-1.352e+00;SOR=0.657	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,956	20	0	1	0
chr12	7368939	7368939	A	G	exonic	CD163L1	.	nonsynonymous SNV	CD163L1:NM_001297650:exon16:c.T4096C:p.S1366P	.	.	432	1082	8	0	0	8	0.00368324	.	.	3185150	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.21	T	0.963	D	0.61	P	.	.	1.000	N	-0.46	N	4.82	T	-0.901	T	0.004	T	0.37	-0.877	0.487	-0.841	-0.649	0.355	.	0.020	0.00213138016052	0.0021	0.00139776	0.0022	0.0008	0.0023	0	0.0011	0.0033	0.0011	0.0004	0.0022315	345	154602	rs145256685	0.0030	0.0031	0.0030	0.0031	0.0034	0.0030	0.0029	0.0033	0.0033	0.0006	0.0027	0.0084	0	0.0009	0.0026	0.0034	0.0030	0.0007	0.0021	0.0021	0.0022	0.0020	0.0030	0.0019	0.0018	0.0027	0.0026	0.0008	0	0.0021	0.0078	0	0.0006	0.0137	0.0030	0.0019	0.0006	0.142	0.25457	T	0.374	0.16328	T	0.963	0.55692	D	0.61	0.51087	P	.	.	.	.	1	0.08975	N	0	0.06538	N	4.82	0.01516	T	-0.2	0.11008	N	0.276	0.40364	-0.9010	0.47889	T	0.004	0.01226	T	8	0.006833434	0.00155	T	0.002131	0.03962	T	0.081	0.23632	.	.	0.229924730088	0.22615	0.7469785868401295	0.74643	0.40024768225	0.41026	0.357838451862	0.19069	T	0.003662	0.03070	T	-0.544142	0.00316	T	-0.55427	0.16918	T	0.00503492827669859	0.00054	T	0.29517	0.05454	T	0.15366879	0.34820	0.17620549	0.40139	0.15366879	0.34820	0.17620549	0.40138	-5.006	0.36905	T	.	.	0.086	0.10594	B	.;.	.;.	2.002407	0.25439	16.76	0.25797429387565318	0.01206	0.00688	0.02942	N	AEFBI	0.092913	0.18805	N	-1.15213811908077	0.05745	0.2627078	-1.32641851020254	0.04092	0.1922834	0.997886754989025	0.36150	0.615465	0.37627	0	0.475579	0.06741	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	0.421	-0.841	0.10207	0.042000	0.13834	-0.384000	0.09521	-0.193000	0.09282	0.646000	0.28137	0.010000	0.20010	0.017000	0.10941	.	.	.	779	0.47767	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	853.98	34	chr12	7368939	.	A	G	853.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.280e-01;DP=799;ExcessHet=0.0000;FS=2.871;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.60;ReadPosRankSum=1.07;SOR=1.061	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1288	20	0	1	0
chr12	7369636	7369636	C	T	exonic	CD163L1	.	nonsynonymous SNV	CD163L1:NM_001297650:exon15:c.G3790A:p.E1264K	.	.	423	1097	2	0	0	2	0.000910747	.	.	2774065	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.85	T	0.203	B	0.013	B	.	.	1.000	N	0.675	N	1.35	T	-0.995	T	0.033	T	0.086	0.509	6.758	-6.65	-1.766	-1.398	3.440	0.004	0.00172400541359	0.0010	0.000399361	0.0003	0.0013	8.648e-05	0	0	0.0002	0.0011	0.0001	0.0002458	38	154602	rs138733121	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0002	0.0009	0.0008	0.0012	8.944e-05	0	2.519e-05	5.617e-05	0.0003	0.0002	0.0003	0.0001	0.0005	0.0005	0.0005	0.0004	0.0014	0.0004	0.0004	0.0011	0.0010	0.0014	0	0.0003	0	0	0	0	0.0001	0	0.0004	0.385	0.14303	T	0.593	0.08217	T	0.203	0.29776	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	0.305	0.10234	N	1.35	0.34648	T	0.22	0.04694	N	0.102	0.10911	-0.9952	0.31245	T	0.033	0.14117	T	9	0.009443253	0.00213	T	0.001724	0.02882	T	0.004	0.00165	.	.	0.206339911435	0.20273	0.340171211966434	0.33930	0.247614121211	0.27312	0.297082483768	0.09967	T	3.93E-4	0.00124	T	-0.644249	0.00078	T	-0.704671	0.05574	T	0.00131694730536722	0.00013	T	0.714229	0.32652	T	0.026122233	0.01631	0.040392634	0.04356	0.026122233	0.01630	0.040392634	0.04355	-6.009	0.46355	T	.	.	0.071	0.03811	B	.;.	.;.	0.774374	0.11446	8.051	0.75827469048546059	0.11226	0.01493	0.04955	N	ALL	0.068081	0.13413	N	-1.6352914797964	0.01098	0.0476841	-1.75886902504298	0.00900	0.04025293	0.999999999999999	0.74766	0.643511	0.44296	0	0.600882	0.49574	2	0.547309	0.15389	0	0.631631	0.49550	0	.	.	3.33	-6.65	0.01630	-0.850000	0.04425	-10.168000	0.00732	-0.346000	0.05637	0.000000	0.06391	0.000000	0.08366	0.495000	0.28905	0.1276:0.461:0.2569:0.1545	3.440	0.07031	794	0.45591	SRCR domain|SRCR domain|SRCR domain|SRCR-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1491.98	33	chr12	7369636	.	C	T	1491.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.82;ReadPosRankSum=-2.500e-01;SOR=0.669	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1243	20	0	1	0
chr12	7652818	7652818	C	T	exonic	APOBEC1	.	stopgain	APOBEC1:NM_001644:exon3:c.G62A:p.W21X	.	.	436	1079	7	0	0	7	0.00323326	.	.	2810158	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	.	.	.	.	0.113	N	1.000	A	.	.	.	.	.	.	.	.	.	1.904	12.33	3.58	1.016	0.272	8.511	.	.	0.0064	0.00219649	0.0062	0.0025	0.0012	0.0002	0.0032	0.0089	0.0011	0.0059	0.0062418	965	154602	rs34275479	0.0085	0.0084	0.0084	0.0085	0.0100	0.0084	0.0083	0.0098	0.0098	0.0015	0.0013	0.0026	5.083e-05	0.0025	0.0023	0.0100	0.0065	0.0061	0.0055	0.0055	0.0060	0.0051	0.0098	0.0052	0.0051	0.0092	0.0090	0.0019	0	0.0017	0.0032	0	0.0028	0	0.0098	0.0033	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	0.113049	0.19332	N	0.464573	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.85	0.84609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223117	0.76071	D	0.558747	0.95874	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	6.922061	0.95916	35	0.98165114254122043	0.38806	0.03616	0.08851	N	AEFI	0.438770	0.49802	N	0.41356687185524	0.62167	4.428339	0.118762397828414	0.45510	2.812796	2.87520441522825E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.48	3.58	0.40133	-0.019000	0.12487	1.997000	0.30104	0.599000	0.40250	0.002000	0.15269	1.000000	0.68203	0.525000	0.29590	0.0:0.8902:0.0:0.1098	8.511	0.32378	819	0.41190	Cytidine and deoxycytidylate deaminase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1419.98	61	chr12	7652818	.	C	T	1419.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.370e-01;DP=1131;ExcessHet=0.0000;FS=3.352;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=0.145;SOR=1.012	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1800	20	0	1	0
chr12	7695608	7695608	G	T	exonic	GDF3	.	nonsynonymous SNV	GDF3:NM_020634:exon1:c.C121A:p.P41T,	Klippel-Feil syndrome 3, autosomal dominant;Microphthalmia with coloboma 6;Microphthalmia, isolated 7	.	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.995	D	0.92	D	0.000	D	0.996	N	2.485	M	-0.5	T	-0.507	T	0.457	T	0.388	1.634	11.42	2.97	0.964	4.929	7.249	0.268	0.0287619160055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.021	0.58089	D	0.995	0.67487	D	0.92	0.65550	D	0.000002	0.62929	D	0.058457	0.995856	0.23183	N	2.93	0.84523	M	-0.5	0.70480	T	-4.6	0.78976	D	0.467	0.50327	-0.5069	0.68399	T	0.457	0.78849	T	10	0.5030568	0.61660	D	0.028762	0.51384	D	0.268	0.58254	0.348	0.34436	0.806632036883	0.80481	0.5050193630384279	0.50423	0.551888430778	0.52018	0.455151617527	0.32648	T	0.666803	0.90065	D	0.0191199	0.54262	T	-0.210312	0.53666	T	0.98982834815979	0.80044	D	0.693131	0.30283	T	0.38922802	0.59977	0.26342615	0.52148	0.38922802	0.59977	0.26342615	0.52147	-6.578	0.50885	T	0.5877231603068275	0.65451	0.207	0.43352	B	.	.	3.971716	0.58326	24.0	0.99595866170894276	0.73925	0.75234	0.36827	D	ALL	0.337373	0.43519	N	0.240835626638711	0.53187	3.488788	0.0507249801278006	0.42107	2.541139	0.999982102950392	0.51787	0.538715	0.22204	0	0.573888	0.26702	0	0.78367	0.99111	0	0.654926	0.60358	0	.	.	3.86	2.97	0.33479	4.051000	0.57125	6.585000	0.56008	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.1229:0.0:0.8771:0.0	7.249	0.25315	900	0.24599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2196.98	33	chr12	7695608	.	G	T	2196.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.115;DP=925;ExcessHet=0.0000;FS=2.340;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.08;ReadPosRankSum=-4.910e-01;SOR=0.874	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1174	20	0	1	0
chr12	7817941	7817941	T	C	exonic	SLC2A14	.	nonsynonymous SNV	SLC2A14:NM_001286236:exon9:c.A907G:p.I303V	.	.	409	1112	1	0	0	1	0.000449438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.825	P	0.718	P	0.000	D	1.000	D	2.185	M	-0.97	T	-0.216	T	0.442	T	0.219	2.989	15.97	3.31	1.266	7.092	9.890	0.351	0.0231307422174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.519e-05	2.3e-07	9e-08	.	.	0	0	0	2.519e-05	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.61437	D	0.055	0.50809	T	0.251	0.31212	B	0.23	0.40197	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.91	0.51138	L	-0.97	0.75670	T	-0.84	0.23372	N	0.582	0.64052	-0.2161	0.77255	T	0.442	0.77958	T	10	0.38526762	0.54493	T	0.023131	0.46073	T	0.351	0.67234	0.56	0.67958	0.255117706274	0.25116	0.18330615711488896	0.18249	1.68344626233	0.90033	0.751401364803	0.74652	T	0.075016	0.35078	T	-0.0254022	0.48080	T	-0.274265	0.47388	T	0.892181515693665	0.54324	D	0.533547	0.17787	T	0.2641694	0.49484	0.20542474	0.44711	0.2641694	0.49484	0.20542474	0.44710	-8.459	0.64482	D	.	.	0.240	0.51506	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.650284	0.51800	23.1	0.99836821718332469	0.91800	0.95438	0.64721	D	AEBI	0.731125	0.67830	D	0.154002575303243	0.49002	3.105566	0.15302120448109	0.47303	2.962488	0.112280246257419	0.16680	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	3.31	3.31	0.37025	6.987000	0.75976	7.815000	0.69558	0.341000	0.19778	1.000000	0.71638	1.000000	0.68203	0.740000	0.35438	0.0:0.0:0.0:1.0	9.890	0.40457	923	0.18507	.;.;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;.;.;Major facilitator superfamily domain|Major facilitator superfamily domain;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	847.98	38	chr12	7817941	.	T	C	847.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.549e+00;DP=839;ExcessHet=0.0000;FS=0.761;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.39;MQRankSum=0.686;QD=8.31;ReadPosRankSum=0.694;SOR=0.582	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr12	7829905	7829905	C	T	exonic	SLC2A14	.	nonsynonymous SNV	SLC2A14:NM_001286236:exon4:c.G116A:p.R39H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.962	D	0.000	D	1.000	D	4.73	H	-2.63	D	1.016	D	0.911	D	0.653	3.183	16.65	3.41	1.430	6.848	12.309	0.794	0.250104568511	.	.	1.648e-05	0	0	0.0001	0	0	0	6.056e-05	1.29e-05	2	154602	rs770629394	1.779e-05	1.779e-05	1.361e-05	2.2e-05	0.0005	1.237e-05	1.051e-05	0.0001	7.541e-05	0	0	0	0	0	0.0005	7.194e-06	9.934e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.991	0.68779	D	0.908	0.70672	P	0.000000	0.84330	D	0.000000	1	0.81001	D	4.19	0.97772	H	-2.63	0.90083	D	-4.35	0.79482	D	0.956	0.97750	1.016	0.97462	D	0.911	0.97046	D	10	0.90871376	0.90236	D	0.250105	0.89078	D	0.794	0.93227	0.701	0.83777	0.692426550812	0.68978	0.8320408758455037	0.83163	0.884575161911	0.69923	0.666960537434	0.62404	T	0.778155	0.94119	D	0.183383	0.72354	D	0.122495	0.78399	D	0.998473465442657	0.94253	D	0.90141	0.65732	D	0.6279099	0.74187	0.51814383	0.72160	0.6279099	0.74188	0.51814383	0.72161	-11.803	0.84152	D	.	.	0.885	0.83497	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.563426	0.71934	25.7	0.99915286177496332	0.98379	0.92717	0.56374	D	AEFDBHCI	0.814618	0.73680	D	0.729619493222715	0.81575	7.554283	0.509598528790888	0.68635	5.247278	0.824163118982355	0.24576	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.664235	0.64389	0	.	.	3.41	3.41	0.38145	6.824000	0.75078	2.678000	0.33996	0.304000	0.19002	1.000000	0.71638	0.993000	0.31925	0.498000	0.28972	0.0:1.0:0.0:0.0	12.309	0.54242	929	0.16858	.;.;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;.;Major facilitator superfamily domain|Major facilitator superfamily domain;.;.;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2035.98	34	chr12	7829905	.	C	T	2035.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=868;ExcessHet=0.0000;FS=6.483;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-3.410e-01;SOR=0.677	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1208	20	0	1	0
chr12	7863382	7863382	G	A	exonic	SLC2A14	.	nonsynonymous SNV	SLC2A14:NM_153449:exon3:c.C74T:p.P25L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.851	P	0.241	B	0.942	N	1.000	N	0	N	-1.56	D	-0.792	T	0.262	T	0.197	0.318	5.726	.	0.064	0.064	.	0.176	.	.	0.00199681	0.0035	0	0	0	.	0	0	0.0050	0.0003299	51	154602	rs539921769	0.0013	0.0006	0.0007	0.0017	0.0058	0.0012	0.0011	0.0053	0.0051	0	0	0	0	0	0.0009	0.0001	0.0009	0.0058	0.0002	0.0002	0.0002	0.0003	0.0058	0.0002	0.0001	0.0041	0.0036	0	0	0	0	0	0	0	7.352e-05	0	0.0058	0.028	0.72154	D	0.396	0.21745	T	0.851	0.46962	P	0.241	0.38645	B	0.941963	0.08347	N	0.970008	1	0.08975	N	0	0.06538	N	-1.56	0.84267	D	-1.03	0.36385	N	0.057	0.03069	-0.7918	0.55624	T	0.262	0.63274	T	8	0.005643338	0.00125	T	.	.	.	0.176	0.44373	0.475	0.55182	0.168254554758	0.16434	.	.	0.228339972654	0.25387	0.543522000313	0.44943	T	0.009476	0.17768	T	-0.367679	0.03713	T	-0.297057	0.45035	T	0.0465208242823568	0.04879	T	0.340266	0.07508	T	0.047448855	0.08111	0.12816608	0.30839	0.047448855	0.08110	0.12816608	0.30838	-3.306	0.13815	T	.	.	0.129	0.28290	B	.;.;.;.;.	.;.;.;.;.	0.414863	0.07854	4.555	0.89505756002171921	0.18855	0.00980	0.03737	N	AEFBCI	0.053835	0.09736	N	-1.00704019110472	0.08456	0.3965975	-1.17922117434643	0.06258	0.3006545	0.0103862737705504	0.12016	0.421363	0.06395	0	0.547309	0.14657	0	0.536957	0.11973	0	0.613276	0.41899	0	.	.	.	.	.	0.064000	0.14310	0.097000	0.14596	0.061000	0.17545	0.073000	0.22155	0.023000	0.20922	0.074000	0.16894	.	.	.	940	0.13648	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	213.34	21	chr12	7863382	.	G	A	213.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.220;DP=299;ExcessHet=0.0000;FS=1.957;InbreedingCoeff=-0.0263;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=-9.800e-02;SOR=0.956	GT:AD:DP:GQ:PL	0/0:17,0:17:51:0,51,460	19	0	1	1
chr12	8059056	8059056	C	T	exonic	C3AR1	.	nonsynonymous SNV	C3AR1:NM_001326475:exon2:c.G1130A:p.R377Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.775	P	0.146	B	0.156	N	1.000	N	1.9	L	1.07	T	-1.050	T	0.082	T	0.114	1.076	9.392	-0.167	-0.312	-0.694	9.796	0.082	0.0187375621679	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs751723531	5.472e-06	5.472e-06	0	1.1e-05	0.0003	2.35e-06	1.7e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	4.496e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.25979	T	0.186	0.28860	T	0.775	0.44108	P	0.146	0.33945	B	0.155684	0.17823	N	0.424009	1	0.08975	N	1.835	0.48228	L	1.07	0.39586	T	-1.8	0.42384	N	0.056	0.02759	-1.0503	0.14313	T	0.082	0.32237	T	10	0.32683432	0.49975	T	0.018738	0.40901	T	0.082	0.23913	0.711	0.84691	0.384086055536	0.38021	0.18383806332103425	0.18302	0.0447624842732	0.04840	0.19774132967	0.00394	T	0.258173	0.62930	T	-0.335271	0.05723	T	-0.622516	0.10988	T	0.274112552404404	0.23922	T	0.615039	0.23503	T	0.09165344	0.21483	0.08736742	0.20305	0.09165344	0.21483	0.08736742	0.20304	-5.253	0.39476	T	.	.	0.084	0.09578	B	.	.	0.954398	0.13308	9.809	0.98241145749963277	0.39485	0.04617	0.10278	N	AEFDGBI	0.125718	0.24234	N	-0.578590843267659	0.19595	1.026826	-0.717083028612628	0.16535	0.8751915	0.998964793058801	0.38084	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.79	-0.167	0.12693	-0.482000	0.06623	-0.674000	0.07920	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.093000	0.17941	0.0:0.4971:0.0:0.5029	9.796	0.39901	929	0.16858	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1770.98	33	chr12	8059056	.	C	T	1770.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=846;ExcessHet=0.0000;FS=0.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=-1.154e+00;SOR=0.765	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1334	20	0	1	0
chr12	8060081	8060081	T	-	exonic	C3AR1	.	frameshift deletion	C3AR1:NM_001326475:exon2:c.105delA:p.L35Ffs*16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.26e-06	0	0	0	0	0	0	6.061e-05	6.5e-06	1	154602	rs759349993	2.052e-06	2.052e-06	1.361e-06	2.75e-06	3.478e-05	5.5e-07	1.5e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2147.94	33	chr12	8060080	.	GT	G	2147.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.197e+00;DP=848;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.90;ReadPosRankSum=1.08;SOR=0.747	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr12	8123940	8123940	T	C	exonic	CLEC4A	.	nonsynonymous SNV	CLEC4A:NM_016184:exon1:c.T62C:p.I21T	.	.	.	.	.	.	.	.	.	.	.	3419448	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.012	B	0.015	B	.	.	1.000	N	0.38	N	5.52	T	-0.984	T	0.041	T	0.043	0.224	5.209	-4.18	-0.907	-1.227	5.677	0.007	0.0010997481034	.	0.000199681	3.302e-05	9.669e-05	0	0	0	3.003e-05	0.0011	0	3.23e-05	5	154602	rs142534143	4.525e-05	4.583e-05	3.275e-05	5.786e-05	0.0003	3.649e-05	3.329e-05	0.0001	0.0001	0.0003	0	0	0	1.873e-05	0.0002	3.787e-05	0.0002	0	4.595e-05	4.593e-05	7.707e-05	1.343e-05	0.0004	2.107e-05	1.526e-05	7.293e-05	3.03e-05	2.405e-05	0	0	0	0	0	0.0034	2.939e-05	0.0005	0.0004	1.0	0.02161	T	0.623	0.26631	T	0.012	0.16265	B	0.005	0.17295	B	.	.	.	.	1	0.08975	N	-0.535	0.02521	N	5.52	0.01033	T	1.27	0.02442	N	0.01	0.08925	-0.9844	0.33975	T	0.041	0.17488	T	9	0.0252662	0.00726	T	0.001	0.01312	T	0.007	0.00512	.	.	0.107399877778	0.10242	0.08376284042238187	0.08310	0.245074677174	0.27039	0.35207003355	0.18227	T	0.001766	0.01186	T	-0.513747	0.00478	T	-0.79421	0.02051	T	0.0357335930844877	0.02934	T	0.464054	0.17878	T	0.025738237	0.01546	0.05478376	0.09486	0.025738237	0.01546	0.05478376	0.09485	-2.861	0.09314	T	.	.	0.076	0.22354	B	.;.;.;.;.	.;.;.;.;.	-0.587990	0.01605	0.109	0.41523539413845822	0.03001	0.00227	0.01275	N	AEFGBIJ	0.033955	0.04121	N	-1.59324417035238	0.01299	0.05654399	-1.63781737636056	0.01440	0.06513204	0.999992013366511	0.74766	0.538715	0.22204	0	0.633563	0.54681	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.31	-4.18	0.03584	-0.826000	0.04536	-3.326000	0.02874	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.2086:0.276:0.5154	5.677	0.17028	923	0.18507	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	751.98	40	chr12	8123940	.	T	C	751.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.768e+00;DP=913;ExcessHet=0.0000;FS=0.752;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.84;ReadPosRankSum=0.487;SOR=0.850	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1237	20	0	1	0
chr12	8174407	8174407	T	A	exonic	ZNF705A	.	nonsynonymous SNV	ZNF705A:NM_001004328:exon2:c.T94A:p.Y32N,	.	.	467	1052	2	1	0	4	0.00189753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.971	D	0.337	B	.	.	0.997	N	2.89	M	3.11	T	-1.012	T	0.031	T	0.503	2.702	15.00	1.57	1.012	0.666	5.346	0.068	0.00205616859962	.	0.000399361	0.0002	0	0	0	0	0	0	0.0019	7.68e-05	2	26028	rs773432197	7.554e-05	7.456e-05	3.861e-05	0.0001	0.0012	6.397e-05	5.949e-05	0.0010	0.0009	0	0	0	0	0	0.0005	0	4.996e-05	0.0012	5.254e-05	5.249e-05	5.141e-05	5.372e-05	0.0017	2.556e-05	1.829e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.0	0.91255	D	0.0	0.92824	D	0.971	0.57185	D	0.337	0.42281	B	.	.	.	.	0.997033	0.22815	N	4.195	0.97796	H	3.11	0.08194	T	-7.81	0.96243	D	0.645	0.65673	-1.0125	0.26133	T	0.031	0.13504	T	9	0.12755093	0.24258	T	0.002056	0.03748	T	0.068	0.19811	0.762	0.89053	0.595101170395	0.59188	0.23762401952644552	0.23676	3.28525368344	0.99565	0.56209641695	0.47563	T	0.122958	0.44699	T	-0.372229	0.03483	T	-0.36665	0.37281	T	0.998994410037994	0.95825	D	0.859314	0.57909	D	0.6107884	0.73270	0.41730946	0.65788	0.6107884	0.73271	0.41730946	0.65788	-7.167	0.55244	T	.	.	0.850	0.79748	P	.;.;.	.;.;.	2.512290	0.32452	19.05	0.98627626164446802	0.43866	0.02327	0.06664	N	AEFI	0.039367	0.05708	N	-0.189183246498735	0.33585	1.906985	-0.404825799536779	0.24855	1.363439	2.97068810693977E-6	0.01202	0.516011	0.20929	0	0.547309	0.14657	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	1.57	1.57	0.22490	1.787000	0.38336	3.235000	0.36931	0.490000	0.22344	0.551000	0.27354	0.213000	0.23658	0.019000	0.11356	0.0:0.0:0.0:1.0	5.346	0.15317	844	0.36711	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	1080.33	41	chr12	8174407	.	T	A	1080.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=3.46;DP=745;ExcessHet=0.0000;FS=0.845;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=32.69;MQRankSum=-3.170e-01;QD=13.50;ReadPosRankSum=-4.280e-01;SOR=0.711	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1319	19	0	1	1
chr12	8773696	8773696	C	T	exonic	RIMKLB	.	nonsynonymous SNV	RIMKLB:NM_001297776:exon6:c.C1073T:p.T358M	.	.	434	1080	8	0	0	8	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.989	D	0.446	B	0.000	U	1.000	D	0.55	N	.	.	-1.029	T	0.110	T	0.254	2.094	12.96	4.83	1.427	4.325	13.758	0.131	0.0355746145985	0.0019	0.00279553	0.0018	0.0057	0.0006	0	0	0.0008	0.0022	0.0056	0.0016171	250	154602	rs188393703	0.0009	0.0009	0.0008	0.0010	0.0092	0.0009	0.0008	0.0072	0.0065	0.0051	0.0006	0.0065	0	0	0.0092	0.0003	0.0018	0.0052	0.0022	0.0023	0.0022	0.0023	0.0059	0.0020	0.0020	0.0053	0.0051	0.0059	0	0.0010	0.0049	0	0	0.0034	0.0004	0.0038	0.0052	0.014	0.53172	D	0.047	0.48855	D	0.989	0.62824	D	0.446	0.45959	B	0.000008	0.62929	U	0.065889	0.999678	0.48205	D	0.345	0.11182	N	.	.	.	-1.1	0.28497	N	0.299	0.33796	-1.0288	0.20843	T	0.110	0.39723	T	8	0.0064869523	0.00147	T	0.035575	0.56436	D	0.131	0.35738	.	.	0.0934897674506	0.08844	0.5941018852188134	0.59340	0.904117605581	0.70769	0.592844069004	0.51896	T	0.008014	0.07373	T	-0.392503	0.02592	T	-0.333133	0.41120	T	0.0303859723609724	0.02049	T	0.711829	0.32321	T	0.07645309	0.17292	0.105179384	0.25277	0.07645309	0.17291	0.105179384	0.25277	-4.044	0.24460	T	.	.	0.090	0.13690	B	.;.;.	.;.;.	3.914444	0.57112	23.8	0.98222203360845284	0.39307	0.91567	0.53800	D	AEFDBIJ	0.416555	0.48496	N	0.0892876291040403	0.45963	2.844244	0.178827685413135	0.48688	3.081392	0.948926521270582	0.27822	0.706548	0.73137	0	0.588015	0.36545	0	0.696144	0.63334	0	0.714379	0.83352	0	.	.	5.72	4.83	0.61880	5.458000	0.66416	4.911000	0.45953	0.543000	0.25316	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9257:0.0:0.0743	13.758	0.62433	895	0.25842	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	289.98	46	chr12	8773696	.	C	T	289.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.07;ReadPosRankSum=2.05;SOR=0.567	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1266	20	0	1	0
chr12	8863976	8863976	C	T	exonic	A2ML1	.	nonsynonymous SNV	A2ML1:NM_001282424:exon18:c.C2212T:p.H738Y	.	.	439	1074	9	0	0	9	0.00417246	.	.	921522	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.002	B	0.003	B	0.277	N	1.000	N	0.55	N	1.23	T	-1.019	T	0.061	T	0.177	2.714	15.04	3.61	1.235	5.288	11.243	0.096	0.00469656653734	.	.	3.314e-05	0	0	0	0	5.998e-05	0	0	2.59e-05	4	154602	rs764222230	2.944e-05	3.01e-05	3.134e-05	2.752e-05	3.481e-05	2.218e-05	1.971e-05	2.37e-05	2.103e-05	0	0	0	2.519e-05	0	0	3.238e-05	4.978e-05	3.481e-05	1.972e-05	1.97e-05	3.855e-05	0	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.94e-05	0	0	0.002	0.78490	D	0.003	0.83351	D	0.002	0.09854	B	0.003	0.08700	B	0.276558	0.15025	N	0.599033	0.999975	0.18612	N	0.345	0.11182	N	1.23	0.36872	T	-1.12	0.28906	N	0.08	0.06990	-1.0194	0.23910	T	0.061	0.25455	T	10	0.19686007	0.35594	T	0.004697	0.11691	T	0.096	0.27654	.	.	0.0482279557977	0.04254	0.3283352006397031	0.32746	0.130355763419	0.14704	0.232237935066	0.02138	T	0.00753	0.14295	T	-0.277383	0.10948	T	-0.46709	0.25830	T	0.195540780947093	0.20166	T	0.39826	0.10085	T	0.18370003	0.39649	0.17638429	0.40169	0.18370003	0.39649	0.17638429	0.40168	-6.652	0.51893	T	.	.	0.127	0.28406	B	.;.;.	.;.;.	2.997805	0.40049	21.1	0.99296168533606244	0.58433	0.94203	0.60426	D	AEFBI	0.370860	0.45708	N	-0.203674597040596	0.32982	1.866192	-0.0525852029814137	0.37378	2.187775	0.510571233138104	0.21015	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.5	3.61	0.40494	5.572000	0.67111	0.847000	0.22099	0.549000	0.26987	1.000000	0.71638	0.000000	0.08366	0.994000	0.71098	0.0:0.9098:0.0:0.0902	11.243	0.48211	712	0.56465	Alpha-macroglobulin complement component;Alpha-macroglobulin complement component;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2245.98	34	chr12	8863976	.	C	T	2245.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.600e-02;DP=2111;ExcessHet=0.0000;FS=0.559;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=0.00;SOR=0.780	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1475	20	0	1	0
chr12	8921664	8921664	A	G	exonic	PHC1	.	nonsynonymous SNV	PHC1:NM_004426:exon5:c.A370G:p.S124G,	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.94	P	0.632	P	0.000	D	1.000	D	0.6	N	1.7	T	-1.098	T	0.070	T	0.315	1.853	12.16	4.44	0.932	4.959	11.711	0.066	0.0129697258355	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1320499058	2.053e-06	2.052e-06	1.362e-06	2.751e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	3.83e-05	0	0	0.0002	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.68238	D	0.023	0.60337	D	0.94	0.52768	P	0.615	0.51231	P	0.000005	0.62929	D	0.063942	0.531671	0.81001	D	1.65	0.42232	L	1.67	0.27331	T	-2.2	0.51319	N	0.443	0.48780	-1.0978	0.04367	T	0.070	0.28708	T	10	0.18797031	0.34332	T	0.01297	0.31999	T	0.066	0.19193	0.158	0.06178	0.43774664317	0.43397	0.5001573753818467	0.49936	1.42764072559	0.85742	0.547503232956	0.45505	T	0.023885	0.42494	T	-0.111792	0.34472	T	-0.398358	0.33576	T	0.75799435377121	0.43737	D	0.80142	0.44736	T	0.25954664	0.49008	0.23064631	0.48173	0.25954664	0.49008	0.23064631	0.48172	-4.602	0.32197	T	.	.	0.061	0.24633	B	.;.;.;.;.;.	.;.;.;.;.;.	3.273612	0.44819	22.0	0.98505843128685866	0.42276	0.88212	0.48039	D	AEFDBI	0.387739	0.46761	N	0.284941684189727	0.55385	3.702562	0.343002609666838	0.58089	3.977326	0.997381212408987	0.35561	0.67177	0.52595	0	0.610034	0.51514	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.59	4.44	0.53164	4.575000	0.60619	7.122000	0.57598	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.8674:0.0:0.0:0.1326	11.711	0.50890	629	0.65079	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1948.98	46	chr12	8921664	.	A	G	1948.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.252;DP=1010;ExcessHet=0.0000;FS=3.519;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.97;MQRankSum=0.114;QD=11.33;ReadPosRankSum=-4.650e-01;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485	20	0	1	0
chr12	8933192	8933192	C	G	exonic	PHC1	.	nonsynonymous SNV	PHC1:NM_004426:exon8:c.C1735G:p.P579A,	.	.	449	1051	22	0	0	22	0.0103578	.	.	2810169	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.009	B	0.004	B	0.028	N	1.000	D	0.345	N	1.56	T	-1.103	T	0.031	T	0.236	0.247	5.333	4.32	2.735	0.511	10.488	0.058	.	.	0.00359425	0.0134	0	0.0046	0	0	0.0178	0	0.0299	0.0025226	390	154602	rs201210657	0.0077	0.0073	0.0078	0.0075	0.0084	0.0075	0.0075	0.0082	0.0082	0.0013	0.0034	0.0011	0	0.0108	0.0030	0.0084	0.0066	0.0056	0.0063	0.0065	0.0061	0.0066	0.0096	0.0060	0.0059	0.0090	0.0087	0.0011	0.0079	0.0070	0.0009	0	0.0114	0.0034	0.0096	0.0031	0.0030	0.018	0.50676	D	1.0	0.01155	T	0.009	0.15093	B	0.004	0.10090	B	0.028378	0.25612	N	0.372588	0.96657	0.81001	D	0.805	0.20218	L	1.56	0.29602	T	-0.92	0.25332	N	0.194	0.21710	-1.1035	0.03693	T	0.031	0.13242	T	10	0.0052458644	0.00114	T	.	.	.	0.058	0.16647	.	.	0.21174354426	0.20776	0.28156049121059595	0.28069	0.727970359096	0.62593	0.437310278416	0.30210	T	0.156719	0.49901	T	-0.508406	0.00512	T	-0.495675	0.22798	T	0.00270492312657262	0.00028	T	0.712729	0.33234	T	0.06320114	0.13281	0.04482734	0.05896	0.06268708	0.13120	0.04482734	0.05896	-3.655	0.18656	T	.	.	0.051	0.00259	B	.;.;.	.;.;.	2.134720	0.27180	17.37	0.70983424013796725	0.09476	0.82891	0.42059	D	AEFDGBI	0.160804	0.28679	N	-0.226141754932948	0.32064	1.80436	-0.0334254884364705	0.38214	2.248346	0.00473759868014255	0.10692	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.27	4.32	0.50899	0.712000	0.25450	1.535000	0.27187	0.599000	0.40250	0.968000	0.34134	0.999000	0.35428	0.997000	0.79791	0.1454:0.7763:0.0:0.0783	10.488	0.43919	601	0.67921	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	617.98	34	chr12	8933192	.	C	G	617.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.48;DP=687;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=39.85;MQRankSum=-1.131e+00;QD=14.37;ReadPosRankSum=-7.400e-02;SOR=0.428	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1254	20	0	1	0
chr12	9093481	9093481	C	T	exonic	A2M	.	nonsynonymous SNV	A2M:NM_001347425:exon17:c.G1774A:p.D592N	Alpha-2-macroglobulin deficiency, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.494	P	0.279	B	0.215	N	0.703	D	1.81	L	1.79	T	-1.017	T	0.058	T	0.05	2.965	15.88	2.16	0.631	0.161	5.182	0.081	0.00509096676237	.	.	6.641e-05	0	0	0	0	0	0	0.0005	5.82e-05	9	154602	rs545926870	1.505e-05	1.642e-05	1.089e-05	1.926e-05	0.0002	9.85e-06	8.42e-06	0.0002	0.0001	0	0	0	0	0	0	0	1.656e-05	0.0002	6.574e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.202	0.20230	T	0.196	0.27943	T	0.494	0.37037	P	0.279	0.40265	B	0.214626	0.16283	N	0.597033	0.70349	0.33445	D	2.1	0.58353	M	1.79	0.25509	T	-2.95	0.61580	D	0.256	0.28965	-1.0169	0.24722	T	0.058	0.24428	T	10	0.18166709	0.33410	T	0.005091	0.12908	T	0.081	0.23632	0.673	0.81101	0.703293783477	0.70071	0.6727392154691242	0.67211	0.25146536342	0.27727	0.446050465107	0.31405	T	0.169624	0.51706	T	-0.534915	0.00359	T	-0.684179	0.06732	T	0.269069641828537	0.23707	T	0.425557	0.11413	T	0.18931358	0.40468	0.10662975	0.25655	0.18931358	0.40468	0.10662975	0.25655	-6.867	0.53056	T	.	.	0.103	0.18539	B	.	.	2.190524	0.27933	17.63	0.99707177012797377	0.81074	0.82909	0.42076	D	AEFBCI	0.648919	0.62357	D	-0.0632522969433378	0.39013	2.293911	-0.0247502643469588	0.38601	2.276507	0.23235802661179	0.18480	0.516011	0.20929	0	0.59043	0.45803	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.11	2.16	0.26663	0.235000	0.17727	-0.233000	0.10659	0.599000	0.40250	0.951000	0.33123	0.166000	0.23302	0.986000	0.61781	0.0:0.5951:0.1674:0.2375	5.182	0.14490	483	0.77230	Alpha-2-macroglobulin|Alpha-2-macroglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1650.98	34	chr12	9093481	.	C	T	1650.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=855;ExcessHet=0.0000;FS=0.590;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.52;ReadPosRankSum=1.35;SOR=0.629	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1309	20	0	1	0
chr12	9202332	9202332	G	C	exonic	PZP	.	nonsynonymous SNV	PZP:NM_002864:exon4:c.C467G:p.P156R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	U	1.000	N	3.945	H	-0.79	T	-0.319	T	0.607	D	0.568	2.205	13.33	0.437	0.115	1.748	2.818	0.359	0.00617761848461	.	.	8.253e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs754952632	6.157e-06	6.156e-06	9.53e-06	2.75e-06	0.0002	2.9e-06	2.1e-06	9.89e-06	3.7e-06	5.974e-05	0	0	0	0	0.0002	4.497e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	0.000070	0.52346	U	0.000000	1	0.08975	N	4.34	0.98424	H	-0.79	0.73739	T	-7.4	0.94758	D	0.476	0.51137	-0.3185	0.74464	T	0.607	0.86059	D	10	0.95252395	0.94595	D	0.006178	0.16200	T	0.359	0.67962	0.853	0.95376	0.802757436706	0.80091	0.6144067797777206	0.61372	0.473242482484	0.46558	0.366369247437	0.20310	T	0.606277	0.87455	D	0.0417684	0.57277	T	-0.162293	0.58145	T	0.97683048248291	0.71561	D	0.867113	0.56785	D	0.44625232	0.63803	0.32674918	0.58579	0.44625232	0.63804	0.32674918	0.58578	-9.199	0.68968	D	.	.	0.545	0.66583	A	.	.	2.713378	0.35474	19.91	0.99593800267610244	0.73748	0.40342	0.26415	N	AEFGI	0.063425	0.12255	N	0.161326964486996	0.49351	3.136344	-0.154984337170435	0.33217	1.897808	7.16102092360667E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.44	0.437	0.15767	1.831000	0.38781	3.309000	0.37448	0.509000	0.23192	0.837000	0.30238	1.000000	0.68203	0.557000	0.30341	0.1627:0.0:0.5628:0.2745	2.818	0.05128	661	0.61838	Alpha-2-macroglobulin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1162.98	37	chr12	9202332	.	G	C	1162.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.727e+00;DP=820;ExcessHet=0.0000;FS=0.681;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.86;ReadPosRankSum=1.33;SOR=0.776	GT:AD:DP:GQ:PL	0/1:65,53:118:99:1177,0,1766	20	0	1	0
chr12	9832369	9832369	G	A	exonic	KLRF1	.	nonsynonymous SNV	KLRF1:NM_001291822:exon2:c.G139A:p.V47M	.	.	446	1012	61	3	0	67	0.0320421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	B	0.033	B	0.722	N	1.000	N	0.55	N	4.79	T	-1.063	T	0.059	T	0.133	-2.679	0	-2.27	-0.970	-0.703	5.229	0.025	.	0.0028	0.00738818	0.0077	0.0007	0.0068	0	0.0005	0.0049	0.0078	0.0301	0.0068175	1054	154602	rs146460124	0.0046	0.0047	0.0036	0.0056	0.0321	0.0045	0.0045	0.0311	0.0307	0.0007	0.0060	0.0077	7.582e-05	0.0003	0.0205	0.0027	0.0055	0.0321	0.0039	0.0039	0.0036	0.0042	0.0327	0.0036	0.0035	0.0285	0.0270	0.0009	0.0011	0.0060	0.0081	0.0002	0.0004	0.0102	0.0038	0.0057	0.0327	0.175	0.25768	T	0.191	0.49120	T	0.113	0.26349	B	0.033	0.22329	B	0.722462	0.06322	N	1.214770	1	0.08975	N	0.805	0.20218	L	0.4	0.57261	T	-1.72	0.40850	N	0.161	0.22228	-1.0634	0.10926	T	0.059	0.24612	T	9	0.0059431195	0.00133	T	.	.	.	0.025	0.05312	.	.	0.171388866994	0.16791	0.2775677312493388	0.27669	.	.	0.29831263423	0.10151	T	0.02985	0.21296	T	-0.585658	0.00178	T	-0.591036	0.13576	T	0.000816321794284554	0.00008	T	0.69743	0.30707	T	.	.	.	.	.	.	.	.	-4.949	0.36281	T	.	.	0.098	0.20038	B	.;.;.;.;.	.;.;.;.;.	0.062193	0.04727	1.359	0.08633522959055194	0.00071	0.00566	0.02572	N	AEFBI	0.044400	0.07140	N	-1.68846938339769	0.00883	0.03823578	-1.7559330760471	0.00911	0.04075757	6.07512311615335E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.04	-2.27	0.06458	-0.693000	0.05222	-0.056000	0.12484	-1.591000	0.00906	0.003000	0.16062	0.005000	0.19230	0.025000	0.12405	0.296:0.2805:0.4235:0.0	5.229	0.14730	900	0.24599	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	2074.68	34	chr12	9832369	.	G	A	2074.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.803;DP=806;ExcessHet=0.3300;FS=0.538;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.572;SOR=0.718	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1048	18	0	3	0
chr12	9893095	9893095	C	T	exonic	KLRF2	.	nonsynonymous SNV	KLRF2:NM_001190765:exon4:c.C293T:p.T98M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	1.845	L	1.1	T	-0.962	T	0.139	T	0.391	3.300	17.09	2.33	1.650	-0.144	8.238	0.082	0.00646076189535	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs184171143	2.024e-05	1.915e-05	2.284e-05	1.758e-05	2.525e-05	1.404e-05	1.209e-05	6.73e-06	5.18e-06	0	0	0.0003	0	8.856e-05	0	1.206e-05	3.457e-05	2.525e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.49	0.72568	M	1.1	0.39050	T	-3.57	0.68999	D	0.292	0.33030	-0.9619	0.38819	T	0.139	0.45734	T	7	0.3011326	0.47656	T	0.006461	0.17014	T	0.082	0.23913	0.564	0.68499	0.273070737957	0.26916	0.24065691084354113	0.23979	.	.	0.404463708401	0.25689	T	0.205602	0.56471	T	-0.192406	0.21906	T	-0.386376	0.34977	T	0.849195778369904	0.50096	D	0.573543	0.20534	T	0.30446163	0.53302	0.28622434	0.54630	0.30446163	0.53302	0.28622434	0.54629	-8.018	0.61193	D	.	.	0.210	0.43775	B	.	.	3.461618	0.48248	22.6	0.99821336667331928	0.90414	0.03239	0.08258	N	AEFI	0.037224	0.05085	N	-0.293349395973298	0.29405	1.630306	-0.425316966997606	0.24257	1.327325	1.38069521865557E-4	0.05486	0.660377	0.49826	0	0.573888	0.26702	0	0.696353	0.63694	0	0.542086	0.14980	0	.	.	2.33	2.33	0.27981	-0.120000	0.10633	1.623000	0.27698	0.333000	0.19617	0.056000	0.21631	0.003000	0.18671	0.988000	0.63387	0.0:1.0:0.0:0.0	8.238	0.30800	889	0.27310	C-type lectin-like|C-type lectin-like|C-type lectin-like|Natural killer cell receptor-like, C-type lectin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	909.98	37	chr12	9893095	.	C	T	909.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.585;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=-5.010e-01;SOR=0.610	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1269	20	0	1	0
chr12	9913600	9913600	T	C	exonic	CLEC2A	.	nonsynonymous SNV	CLEC2A:NM_001130711:exon5:c.A491G:p.K164R,	.	.	437	1072	11	2	0	15	0.00694766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.402	B	0.109	B	.	.	1.000	N	0.78	N	2.35	T	-0.990	T	0.016	T	0.133	0.587	7.170	1.25	0.332	0.496	4.496	0.021	.	0.0066	0.00239617	0.0091	0.0020	0.0028	0	0	0.0127	0.0054	0.0080	0.0025938	401	154602	rs117696017	0.0102	0.0098	0.0104	0.0100	0.0114	0.0101	0.0100	0.0112	0.0111	0.0013	0.0026	0.0218	2.801e-05	0.0048	0.0035	0.0114	0.0096	0.0067	0.0067	0.0067	0.0071	0.0063	0.0108	0.0064	0.0062	0.0101	0.0099	0.0016	0	0.0042	0.0208	0	0.0032	0.0068	0.0108	0.0095	0.0060	0.267	0.16198	T	0.368	0.16570	T	0.402	0.34891	B	0.109	0.31370	B	.	.	.	.	1	0.81001	D	0.83	0.20963	L	2.35	0.16217	T	-1.53	0.37178	N	0.099	0.08088	-0.9903	0.32525	T	0.016	0.06711	T	9	0.0060467124	0.00136	T	.	.	.	0.021	0.04004	.	.	0.0297737177859	0.01360	0.09731355210531162	0.09662	.	.	0.382892340422	0.22667	T	0.00837	0.07688	T	-0.638096	0.00085	T	-0.678969	0.07047	T	0.00301807329912236	0.00032	T	0.435856	0.11948	T	0.16606027	0.36917	0.106602326	0.25648	0.16606027	0.36917	0.106602326	0.25647	-4.001	0.23819	T	.	.	0.118	0.24123	B	.	.	1.693210	0.21574	15.26	0.98001735796983991	0.37483	0.04837	0.10567	N	AEFBI	0.044682	0.07219	N	-0.697510789656441	0.16092	0.8168537	-0.711678765115019	0.16670	0.8829586	1.70989053125919E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.51	1.25	0.20475	0.122000	0.15515	-0.037000	0.12718	0.609000	0.47794	0.018000	0.19461	0.000000	0.08366	0.043000	0.14563	0.2917:0.0:0.0:0.7083	4.496	0.11248	874	0.30607	C-type lectin-like|C-type lectin-like|Natural killer cell receptor-like, C-type lectin-like domain	KLRF2|CLEC2A|KLRF2|CLEC2A|DDX12P|CLECL1	Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Whole_Blood	CLEC2D|CLEC2A|CLEC2A	Adipose_Subcutaneous|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	rs117696017	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1034.98	34	chr12	9913600	.	T	C	1034.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=1.87;SOR=0.693	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1620	20	0	1	0
chr12	10014639	10014639	T	G	exonic	CLEC12B	.	nonsynonymous SNV	CLEC12B:NM_001129998:exon3:c.T307G:p.S103A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.033	B	0.028	B	0.690	N	1.000	N	1.04	L	0.79	T	-1.003	T	0.087	T	0.094	-2.759	0	0.134	0.119	-0.149	6.077	0.009	0.00628366833023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.17821	T	0.289	0.21078	T	0.026	0.20350	B	0.025	0.21332	B	0.689605	0.10187	N	0.843384	1	0.08975	N	1.65	0.42232	L	0.79	0.49068	T	-1.35	0.33598	N	0.122	0.11769	-1.0033	0.28963	T	0.087	0.33606	T	10	0.054082125	0.05703	T	0.006284	0.16493	T	0.009	0.00846	0.219	0.14078	0.101711395817	0.09552	0.14421905881975128	0.14344	0.0757698424566	0.08505	0.342724382877	0.16845	T	0.014942	0.12627	T	-0.305073	0.08189	T	-0.675993	0.07231	T	0.14794796705246	0.16939	T	0.254675	0.03932	T	0.099691816	0.23530	0.07498274	0.16460	0.099691816	0.23530	0.07498274	0.16460	-6.181	0.47769	T	.	.	0.075	0.05890	B	.;.	.;.	0.185512	0.05725	2.169	0.57440435773456511	0.05770	0.01745	0.05502	N	AEFBI	0.048721	0.08343	N	-1.14904548463473	0.05795	0.2651418	-1.20180128478029	0.05881	0.281498	6.27367939575547E-4	0.07482	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.52698	0.09003	0	.	.	4.13	0.134	0.14070	-0.141000	0.10308	-0.959000	0.06786	-0.293000	0.06271	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.5051:0.0:0.4949	6.077	0.19145	934	0.15400	.;Ly49-like, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1269.98	44	chr12	10014639	.	T	G	1269.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.200e-01;DP=836;ExcessHet=0.0000;FS=1.365;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.34;ReadPosRankSum=0.759;SOR=0.725	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr12	10418402	10418402	T	C	exonic	KLRC3	.	nonsynonymous SNV	KLRC3:NM_002261:exon4:c.A428G:p.Q143R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.001	B	0.002	B	0.000	N	1.000	N	0.645	N	3.57	T	-0.954	T	0.009	T	0.088	-0.715	0.924	-4.69	-1.841	-2.619	1.470	0.007	0.000680915479052	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs35805907	6.165e-06	6.157e-06	4.09e-06	8.26e-06	0.0002	2.9e-06	2.1e-06	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	1.801e-06	6.633e-05	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.12386	T	0.539	0.16619	T	0.001	0.07471	B	0.002	0.06944	B	0.000079	0.00436	N	3.949360	1	0.08975	N	0.12	0.08593	N	3.57	0.04645	T	-0.19	0.12283	N	0.13	0.12484	-0.9543	0.40221	T	0.009	0.03054	T	10	0.03946364	0.02438	T	6.81E-4	0.00400	T	0.007	0.00512	0.344	0.33788	0.0297737177859	0.01360	0.1310491575528354	0.13029	0.230551573887	0.25603	0.405796021223	0.25874	T	0.017326	0.14153	T	-0.379969	0.03117	T	-0.783576	0.02347	T	0.0446395544620627	0.04537	T	0.0220978	0.00150	T	0.056012683	0.10965	0.054850567	0.09511	0.056012683	0.10964	0.054850567	0.09511	-1.841	0.02634	T	.	.	0.084	0.11220	B	.;.;.	.;.;.	-1.200029	0.00531	0.012	0.47841598494135762	0.03944	0.00296	0.01581	N	AEFBI	0.035025	0.04440	N	-1.7324364324556	0.00733	0.03164523	-1.84754436221345	0.00619	0.02749157	0.0411693560708953	0.14472	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	2.34	-4.69	0.03061	-3.984000	0.00361	-20.000000	0.00162	-0.131000	0.13161	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2796:0.1572:0.4071:0.1561	1.470	0.02268	872	0.31118	C-type lectin-like|C-type lectin-like|C-type lectin-like|Natural killer cell receptor-like, C-type lectin-like domain;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2971.98	215	chr12	10418402	.	T	C	2971.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.469e+00;DP=4197;ExcessHet=0.0000;FS=3.267;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.37;MQRankSum=-2.513e+00;QD=10.73;ReadPosRankSum=-1.122e+00;SOR=0.732	GT:AD:DP:GQ:PL	0/0:227,0:227:99:0,120,1800	20	0	1	0
chr12	10450556	10450556	G	A	exonic	KLRC1	.	nonsynonymous SNV	KLRC1:NM_002259:exon3:c.C211T:p.L71F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.188	B	0.299	B	0.007	N	0.932	N	1.935	M	2.2	T	-1.024	T	0.058	T	0.331	0.334	5.809	0.681	0.008	-0.001	6.253	0.055	0.00141508426883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.86e-07	6.841e-07	0	1.378e-06	9.022e-07	0	0	.	.	0	0	0	0	0	0	9.022e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.29959	T	0.159	0.31833	T	0.023	0.29318	B	0.038	0.41006	B	0.006588	0.31929	N	0.147635	0.932098	0.27030	N	2.655	0.77738	M	2.2	0.18570	T	-2.6	0.55983	D	0.09	0.14338	-1.0241	0.22377	T	0.058	0.24428	T	10	0.07306573	0.10990	T	0.001415	0.02088	T	0.055	0.15663	0.435	0.48664	0.0762999501168	0.06990	0.18355798802211948	0.18274	0.0558337906702	0.06170	0.314549088478	0.12594	T	0.420332	0.77207	T	-0.219078	0.18118	T	-0.552467	0.17089	T	0.299999828032544	0.25004	T	0.623338	0.24114	T	0.07667325	0.17355	0.076360516	0.16904	0.07667325	0.17355	0.076360516	0.16903	-6.592	0.51138	T	.	.	0.099	0.16582	B	.;.;.;.;.	.;.;.;.;.	0.557630	0.09259	6.044	0.95869813873891929	0.28044	0.05248	0.11083	N	AEFDGI	0.093960	0.19004	N	-1.00571460951074	0.08485	0.3979927	-1.04643631548098	0.08781	0.4334551	5.26026630357321E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.7	0.681	0.17152	-0.101000	0.10943	-1.117000	0.06280	-1.508000	0.01019	0.012000	0.18695	0.000000	0.08366	0.003000	0.05239	0.1086:0.3592:0.5322:0.0	6.253	0.20064	865	0.32612	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1111	188.24	45	chr12	10450556	.	G	A	188.24	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-2.015e+00;DP=1153;ExcessHet=0.6776;FS=365.008;InbreedingCoeff=-0.1621;MLEAC=4;MLEAF=0.111;MQ=60.00;MQRankSum=0.00;QD=0.68;ReadPosRankSum=1.14;SOR=9.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:65,0:78:99:0|1:10450556_G_C:0,192,2067:10450556	14	0	4	3
chr12	10631294	10631294	G	A	exonic	STYK1	.	nonsynonymous SNV	STYK1:NM_018423:exon5:c.C202T:p.P68S,	.	.	438	1073	11	0	0	11	0.00509968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.144	B	0.014	B	0.009	N	1.000	N	2.075	M	0.6	T	-0.678	T	0.322	T	0.179	1.486	10.92	1.44	0.056	0.215	7.526	0.069	0.0134565714201	0.0003	0.000798722	0.0008	0	0.0002	0	0	0.0005	0	0.0036	0.0006598	102	154602	rs140174760	0.0004	0.0004	0.0003	0.0004	0.0029	0.0004	0.0003	0.0026	0.0025	5.974e-05	0.0001	0.0038	0	0	0.0029	0.0001	0.0008	0.0029	0.0003	0.0003	0.0002	0.0004	0.0029	0.0002	0.0002	0.0018	0.0014	0	0	6.533e-05	0.0046	0	0	0	0.0002	0.0005	0.0029	0.149	0.51853	T	0.302	0.92824	T	0.144	0.27697	B	0.014	0.16862	B	0.009183	0.30475	N	0.326057	1	0.08975	N	2.19	0.61577	M	-1.14	0.77843	T	-1.48	0.78302	N	0.168	0.17828	-0.6785	0.61442	T	0.322	0.69099	T	10	0.005180508	0.00113	T	0.013457	0.32880	T	0.069	0.20116	.	.	0.50970329007	0.50609	0.5637568186244317	0.56302	0.183786363742	0.20674	0.283225119114	0.07946	T	0.028895	0.20826	T	-0.412965	0.01900	T	-0.37121	0.36748	T	0.0203411637573905	0.00734	T	0.627137	0.24302	T	0.02052102	0.00614	0.03000872	0.01405	0.02052102	0.00614	0.03000872	0.01405	-3.392	0.14949	T	.	.	0.071	0.05060	B	.;.;.	.;.;.	1.020940	0.14004	10.57	0.68626865613198018	0.08716	0.01913	0.05852	N	AEFBI	0.039501	0.05745	N	-0.960258096141173	0.09464	0.4480145	-1.01897663576184	0.09368	0.4656734	0.991047916226018	0.32354	0.706548	0.73137	0	0.59043	0.45803	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.43	1.44	0.21647	0.247000	0.17953	1.318000	0.25583	-0.641000	0.04447	0.114000	0.23067	0.769000	0.26685	0.004000	0.06068	0.3702:0.0:0.6298:0.0	7.526	0.26822	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1172.98	34	chr12	10631294	.	G	A	1172.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.590e-01;DP=825;ExcessHet=0.0000;FS=3.189;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.85;ReadPosRankSum=1.66;SOR=0.390	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1185	20	0	1	0
chr12	10802390	10802390	C	T	exonic	TAS2R7	.	nonsynonymous SNV	TAS2R7:NM_023919:exon1:c.G181A:p.V61I,	.	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.001	B	0.006	B	0.799	N	1.000	N	-0.985	N	1.17	T	-0.920	T	0.019	T	0.027	-1.795	0.010	-11.0	-2.291	-0.710	16.650	0.093	0.00659809055997	0.0032	0.00259585	0.0008	0.0095	0	0	0	4.502e-05	0	6.06e-05	0.0007762	120	154602	rs138647952	0.0003	0.0003	0.0003	0.0003	0.0107	0.0003	0.0003	0.0098	0.0095	0.0107	0.0003	3.827e-05	0	0	0.0002	3.238e-05	0.0005	6.956e-05	0.0029	0.0030	0.0029	0.0029	0.0104	0.0027	0.0026	0.0096	0.0093	0.0104	0	0.0007	0	0	0	0	1.471e-05	0.0009	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.006	0.12133	B	0.798592	0.06755	N	1.132670	1	0.08975	N	-0.895	0.01383	N	1.17	0.37910	T	-0.06	0.07882	N	0.029	0.00666	-0.9202	0.45527	T	0.019	0.08033	T	10	0.0032795668	0.00056	T	0.006598	0.17415	T	0.093	0.26882	.	.	0.0482279557977	0.04254	0.03287601747632408	0.03235	0.00421502833054	0.00371	0.200792610645	0.00480	T	0.002821	0.02217	T	-0.731062	0.00023	T	-0.814934	0.01557	T	0.00639845366905763	0.00071	T	.	.	.	0.03378135	0.03665	0.032731976	0.02054	0.03378135	0.03665	0.032731976	0.02053	-3.62	0.18147	T	.	.	0.080	0.07889	B	.	.	-0.977267	0.00804	0.027	0.37367515938834639	0.02458	0.00207	0.01180	N	AEFBI	0.022884	0.01201	N	-1.91603645856677	0.00318	0.01366711	-1.96629256344652	0.00360	0.0159078	0.999999998846023	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	5.49	-11.0	0.00133	-0.781000	0.04755	-3.361000	0.02846	-1.668000	0.00804	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.098:0.716:0.0:0.186	16.650	0.85045	810	0.42761	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1841.98	36	chr12	10802390	.	C	T	1841.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=896;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.90;ReadPosRankSum=1.42;SOR=0.672	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr12	10806817	10806817	C	A	exonic	TAS2R8	.	nonsynonymous SNV	TAS2R8:NM_023918:exon1:c.G164T:p.R55I,	.	.	437	1072	12	1	0	14	0.00648749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.434	U	0.988	D	3.535	H	1.2	T	-0.610	T	0.223	T	0.727	2.599	14.65	3.9	0.996	1.309	7.413	0.257	.	0.0038	0.00539137	0.0043	0.0012	0.0029	0.0001	0.0015	0.0050	0.0044	0.0079	0.0042755	661	154602	rs142540719	0.0048	0.0048	0.0047	0.0049	0.0096	0.0047	0.0047	0.0090	0.0088	0.0007	0.0035	0.0055	2.52e-05	0.0026	0.0059	0.0048	0.0059	0.0096	0.0037	0.0037	0.0037	0.0037	0.0128	0.0034	0.0033	0.0103	0.0094	0.0009	0.0022	0.0040	0.0049	0.0002	0.0027	0.0068	0.0050	0.0052	0.0128	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.434370	0.12708	U	0.682034	0.988337	0.40745	D	3.63	0.94006	H	1.2	0.37405	T	-7.8	0.95924	D	0.527	0.55626	-0.6104	0.64387	T	0.223	0.58742	T	10	0.013548523	0.00287	T	.	.	.	0.257	0.56827	.	.	0.377976839388	0.37411	0.2103716931649371	0.20953	0.0063831523443	0.00556	0.283663511276	0.08008	T	0.224698	0.58921	T	-0.258535	0.13073	T	-0.138454	0.60251	T	0.082055394761757	0.10248	T	.	.	.	0.66386664	0.76106	0.8723281	0.93026	0.66386664	0.76107	0.8723281	0.93027	-8.048	0.61397	D	.	.	0.527	0.65785	A	.	.	2.978778	0.39725	21.0	0.98573903527112194	0.43141	0.86188	0.45421	D	AEFBI	0.247155	0.36778	N	0.501910021310106	0.67202	5.050419	0.341232598334537	0.57981	3.966212	1.55228032082513E-4	0.05650	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.79	3.9	0.44240	1.370000	0.33843	1.537000	0.27200	0.530000	0.24713	0.910000	0.31679	0.998000	0.33993	0.693000	0.33928	0.0:0.799:0.0:0.201	7.413	0.26202	817	0.41665	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2406.98	36	chr12	10806817	.	C	A	2406.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.777e+00;DP=970;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=-3.760e-01;SOR=0.678	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr12	10809423	10809423	C	T	exonic	TAS2R9	.	nonsynonymous SNV	TAS2R9:NM_023917:exon1:c.G653A:p.G218E,	.	.	421	1057	42	2	0	46	0.0212963	.	.	713304	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.996	D	0.959	D	0.026	U	1.000	N	3.43	M	5.14	T	-1.073	T	0.011	T	0.276	2.355	13.83	1.59	0.228	1.011	5.313	0.047	.	0.0097	0.0121805	0.0082	0.0200	0.0046	0	0	0.0042	0.0132	0.0263	0.0074708	1155	154602	rs113883583	0.0049	0.0049	0.0041	0.0058	0.0282	0.0048	0.0048	0.0273	0.0269	0.0201	0.0039	0.0184	5.039e-05	0.0005	0.0205	0.0026	0.0064	0.0282	0.0083	0.0083	0.0078	0.0088	0.0278	0.0079	0.0078	0.0240	0.0225	0.0187	0	0.0060	0.0182	0	0.0003	0.0068	0.0026	0.0085	0.0278	0.002	0.72154	D	0.016	0.60972	D	0.996	0.68779	D	0.959	0.70163	D	0.026387	0.25927	U	0.215630	1	0.08975	N	2.32	0.66415	M	5.14	0.01205	T	-5.78	0.87988	D	0.279	0.31590	-1.0726	0.08851	T	0.011	0.04088	T	10	0.004649937	0.00097	T	.	.	.	0.047	0.12962	.	.	0.0846915920261	0.08053	0.031241767503459902	0.03073	0.0320678791834	0.03334	0.253196954727	0.04111	T	0.04032	0.25486	T	-0.559853	0.00254	T	-0.557369	0.16624	T	0.0819738616744035	0.10238	T	.	.	.	0.3881858	0.59903	0.4607451	0.68681	0.3881858	0.59903	0.4607451	0.68681	-7.222	0.55639	T	.	.	0.234	0.46677	B	.	.	2.002613	0.25446	16.76	0.94624989406091298	0.25207	0.17470	0.19851	N	AEFBI	0.083691	0.16956	N	-0.308932895454893	0.28807	1.592075	-0.592638088580168	0.19683	1.057207	1.8890469003529E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.46	1.59	0.22622	0.514000	0.22492	-3.557000	0.02697	-0.949000	0.02041	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1632:0.6547:0.0:0.1821	5.313	0.15147	822	0.40702	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1131.98	77	chr12	10809423	.	C	T	1131.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.292;DP=761;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.70;ReadPosRankSum=-2.090e-01;SOR=0.599	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1072	20	0	1	0
chr12	10825578	10825578	G	A	exonic	TAS2R10	.	nonsynonymous SNV	TAS2R10:NM_023921:exon1:c.C692T:p.S231F,	.	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.521	P	0.619	P	0.004	N	1.000	N	3.135	M	1.37	T	-0.604	T	0.199	T	0.582	2.881	15.60	2.73	0.491	2.048	8.810	0.220	0.0127279096405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.421e-06	3.42e-06	4.084e-06	2.751e-06	0.0002	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0.0002	3.598e-06	0	0	6.582e-06	6.569e-06	0	1.348e-05	1.473e-05	0	0	.	.	0	0	0	0	0	0	0	1.473e-05	0	0	0.001	0.78490	D	0.019	0.59159	D	0.521	0.37531	P	0.619	0.51356	P	0.004156	0.34057	N	0.240122	0.611743	0.30854	N	3.47	0.92451	M	1.37	0.34253	T	-5.07	0.82830	D	0.444	0.48227	-0.6035	0.64672	T	0.199	0.55499	T	10	0.76932883	0.76954	D	0.012728	0.31557	T	0.220	0.51569	0.784	0.90768	0.466398759226	0.46266	0.20532321815965382	0.20449	0.030913611197	0.03200	0.329008996487	0.14784	T	0.132664	0.46289	T	-0.0259	0.48008	T	-0.27498	0.47316	T	0.964855849742889	0.67086	D	.	.	.	0.7268556	0.79546	0.68993694	0.81757	0.7268556	0.79547	0.68993694	0.81758	-6.726	0.52006	T	.	.	0.214	0.44332	B	.	.	2.839678	0.37459	20.5	0.99696159934398698	0.80316	0.54060	0.29523	D	AEFI	0.078360	0.15808	N	0.127031718346172	0.47725	2.994352	0.0293732916834897	0.41086	2.462498	5.11123621861437E-4	0.07201	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	4.57	2.73	0.31266	2.119000	0.41582	1.914000	0.29665	0.618000	0.50648	0.608000	0.27813	0.020000	0.20764	0.882000	0.42233	0.189:0.0:0.811:0.0	8.810	0.34119	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1830.98	35	chr12	10825578	.	G	A	1830.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.796e+00;DP=866;ExcessHet=0.0000;FS=5.987;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=-4.480e-01;SOR=0.645	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1100	20	0	1	0
chr12	10882330	10882330	G	A	exonic	PRH1	.	stopgain	PRH1:NM_001291315:exon5:c.C508T:p.Q170X	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	.	.	.	.	.	.	0.015	A	.	.	.	.	.	.	.	.	.	0.656	7.516	0.497	0.512	0.513	.	.	.	.	.	5.183e-05	0	8.74e-05	0	0	7.789e-05	0	0	.	.	.	rs775565727	4.667e-05	4.788e-05	3.687e-05	5.659e-05	0.0012	3.74e-05	3.423e-05	0.0005	0.0004	0	0.0002	0	0	0	0.0012	3.694e-05	0.0002	0	7.259e-05	7.22e-05	3.868e-05	0.0001	0.0001	3.988e-05	3.139e-05	5.864e-05	4.255e-05	4.825e-05	0	0	0.0003	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0153553	0.24782	A	.	.	.	.	.	.	.	.	.	0.3	0.33904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0163128	0.49378	T	-0.00616287	0.69934	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Tolerant	.;.;.;High	5.807689	0.93643	33	0.86524405614787858	0.16594	0.01631	0.05259	N	AEFGBI	0.044472	0.07159	N	-0.0752798536609552	0.38478	2.254306	-0.526121783984726	0.21445	1.160137	0.923301837145916	0.26738	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	0.497	0.497	0.16109	0.861000	0.27540	-2.661000	0.03495	0.322000	0.19397	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	869	0.31655	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	781.98	33	chr12	10882330	.	G	A	781.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.087e+00;DP=800;ExcessHet=0.0000;FS=1.870;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.70;MQRankSum=0.117;QD=9.65;ReadPosRankSum=-6.250e-01;SOR=0.483	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1184	20	0	1	0
chr12	10930685	10930685	A	C	exonic	PRH2	.	nonsynonymous SNV	PRH2:NM_001110213:exon3:c.A124C:p.I42L,	.	.	422	1079	21	0	0	21	0.00963745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	0.625	N	2.36	T	-0.945	T	0.018	T	0.2	-3.379	0.001	-1.81	-1.932	-0.871	3.420	0.006	0.00157848723934	.	.	0.0004	0.0021	0.0003	0.0001	0	0.0002	0.0011	0.0004	0.0017289	45	26028	rs2923234	0.0007	0.0030	0.0006	0.0007	0.0021	0.0006	0.0006	0.0017	0.0016	0.0021	0.0010	0.0011	0.0005	0.0003	0.0002	0.0005	0.0010	0.0017	0.0031	0.0054	0.0033	0.0028	0.0061	0.0028	0.0027	0.0055	0.0052	0.0061	0	0.0016	0.0033	0.0002	0.0008	0	0.0021	0.0035	0.0030	0.532	0.06980	T	0.656	0.06598	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.36	0.16089	T	0.05	0.06369	N	0.164	0.17278	-0.9454	0.41748	T	0.018	0.07612	T	9	0.005495906	0.00121	T	0.001578	0.02523	T	0.006	0.00375	0.223	0.14665	0.043077524339	0.03247	0.031072521489905844	0.03056	1.57927069771	0.88367	0.282763034105	0.07881	T	.	.	.	-0.343694	0.05137	T	-0.731469	0.04261	T	0.00418809267600828	0.00045	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00297	B	.;.	.;.	-1.403301	0.00358	0.006	0.21598653107946342	0.00830	0.00037	0.00318	N	AEFGI	0.019380	0.00667	N	-2.12225054748313	0.00114	0.004894974	-2.19931340376998	0.00112	0.004941841	0.847810366629689	0.24987	0.553676	0.25195	0	0.588015	0.36545	0	0.536957	0.11973	0	0.620846	0.47308	0	.	.	0.904	-1.81	0.07456	-1.135000	0.03337	-9.997000	0.00751	-2.508000	0.00261	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2436:0.5518:0.0:0.2046	3.420	0.06962	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	271.11	64	chr12	10930685	.	A	C	271.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=6.11;DP=1755;ExcessHet=0.1072;FS=63.162;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=49.89;MQRankSum=-5.021e+00;QD=0.96;ReadPosRankSum=0.656;SOR=6.220	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,110,1800	19	0	2	0
chr12	10930916	10930916	C	T	exonic	PRH2	.	nonsynonymous SNV	PRH2:NM_001110213:exon3:c.C355T:p.R119C,	.	.	435	924	162	0	1	163	0.080597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.183	B	0.001	B	0.106	U	1.000	N	1.32	L	3.6	T	-0.962	T	0.014	T	0.144	0.202	5.089	-0.205	-0.048	0.062	4.703	0.040	0.00135719490272	.	.	0.0029	0.0048	0.0017	0.0035	0.0008	0.0036	0	0.0007	0.0001921	5	26028	rs200488155	0.0017	0.0087	0.0012	0.0022	0.0033	0.0017	0.0016	0.0030	0.0029	0.0009	0.0027	0.0003	0.0013	0.0084	0.0014	0.0014	0.0014	0.0033	0.0020	0.0066	0.0021	0.0020	0.0021	0.0018	0.0018	0.0018	0.0017	0.0019	0	0.0018	0.0003	0.0021	0.0034	0	0.0021	0.0031	0.0009	0.003	0.68238	D	0.053	0.47336	T	.	.	.	.	.	.	0.105583	0.02589	U	18.770200	1	0.08975	N	.	.	.	3.6	0.04494	T	-2.67	0.57110	D	0.136	0.16447	-0.9623	0.38742	T	0.014	0.05705	T	10	0.006133795	0.00138	T	0.001357	0.01961	T	0.040	0.10527	.	.	0.043077524339	0.03247	0.42757858420159933	0.42674	2.02830112022	0.94057	0.486923903227	0.37012	T	.	.	.	-0.311255	0.07638	T	-0.684873	0.06690	T	0.0238748472601751	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.51798	B	.;.	.;.	1.809367	0.22993	15.84	0.69557796090960189	0.09011	0.00174	0.01026	N	AEFGI	0.041418	0.06294	N	-1.24081326439534	0.04422	0.1995362	-1.38216006772386	0.03442	0.1605599	0.243600485591568	0.18599	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	0.865	-0.205	0.12548	0.171000	0.16497	-5.685000	0.01631	0.411000	0.20652	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5953:0.4047:0.0	4.703	0.12216	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	1985.55	50	chr12	10930916	.	C	T	1985.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=1.28;DP=1409;ExcessHet=2.5830;FS=8.734;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=40.94;MQRankSum=-1.380e-01;QD=3.16;ReadPosRankSum=-4.690e-01;SOR=1.815	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	14	0	7	0
chr12	10930967	10930967	C	T	exonic	PRH2	.	stopgain	PRH2:NM_001110213:exon3:c.C406T:p.Q136X,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	.	.	.	.	0.293	U	0.009	A	.	.	.	.	.	.	.	.	.	0.509	6.760	-0.599	-0.180	-0.276	4.354	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1489634770	6.906e-07	4.788e-06	1.372e-06	0	9.049e-07	0	0	.	.	0	0	0	0	0	0	9.049e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292719	0.03905	U	2.163940	0.00919829	0.24122	A	.	.	.	.	.	.	.	.	.	0.103	0.08646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149278	0.69200	D	-0.0233496	0.68808	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant	High;High	4.912375	0.80831	27.4	0.86975139509160304	0.16901	0.00435	0.02127	N	AEFGI	0.029008	0.02658	N	-0.168483475942341	0.34452	1.966583	-0.636579945017447	0.18556	0.9917887	0.254764805226752	0.18721	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.678	-0.599	0.11062	1.087000	0.30476	-0.412000	0.09340	0.396000	0.20521	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	0.0:0.5694:0.4305:0.0	4.354	0.10608	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	105.98	50	chr12	10930967	.	C	T	105.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.807e+00;DP=1097;ExcessHet=0.0000;FS=9.987;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=38.71;MQRankSum=-3.560e-01;QD=1.47;ReadPosRankSum=-1.695e+00;SOR=2.894	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	20	0	1	0
chr12	11030966	11030966	T	C	exonic	TAS2R31	.	nonsynonymous SNV	TAS2R31:NM_176885:exon1:c.A370G:p.R124G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.988	D	0.93	D	.	.	1.000	N	3.8	H	5.15	T	-1.083	T	0.026	T	0.478	2.418	14.04	2.45	1.132	1.336	6.718	0.056	0.00119046517766	.	.	0.0001	0	8.642e-05	0	0	0.0001	0.0011	0.0001	0.0001035	16	154602	rs753392571	1.095e-05	0.0001	5.446e-06	1.651e-05	0.0003	6.48e-06	5.25e-06	6.098e-05	2.523e-05	0	4.474e-05	0	0	0	0.0003	8.995e-06	0	2.321e-05	6.565e-05	0.0002	0.0001	2.685e-05	0.0002	3.514e-05	2.614e-05	5.843e-05	4.24e-05	0	0	0	0	0	0	0	0.0001	0.0005	0.0002	0.001	0.78490	D	0.002	0.79402	D	0.988	0.62325	D	0.93	0.66466	D	.	.	.	.	1	0.08975	N	3.735	0.94896	H	5.15	0.01198	T	-5.06	0.82764	D	0.366	0.40765	-1.0827	0.06833	T	0.026	0.11176	T	9	0.45544392	0.58960	T	0.00119	0.01533	T	0.056	0.15993	.	.	0.286081765059	0.28222	0.25282699369531747	0.25196	0.086034435978	0.09718	0.272564709187	0.06477	T	0.076572	0.35450	T	-0.0944853	0.37336	T	-0.373498	0.36481	T	0.860414803028107	0.51089	D	.	.	.	0.5174096	0.68111	0.5337118	0.73056	0.5174096	0.68112	0.5337118	0.73057	-8.51	0.64495	D	.	.	0.165	0.36455	B	.	.	3.271496	0.44781	22.0	0.97077317732305402	0.32264	0.03887	0.09259	N	AEFBI	0.058880	0.11081	N	0.0153905718956789	0.42555	2.566264	-0.301177396634361	0.28061	1.56165	4.5286316145239E-4	0.07036	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.645665	0.59343	0	.	.	2.45	2.45	0.28953	2.421000	0.44343	-0.140000	0.11527	0.502000	0.22824	0.020000	0.19661	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.718	0.22504	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	647.98	345	chr12	11030966	.	T	C	647.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.167e+00;DP=6288;ExcessHet=0.0000;FS=5.656;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.71;MQRankSum=-1.144e+01;QD=2.62;ReadPosRankSum=0.654;SOR=0.471	GT:AD:DP:GQ:PL	0/1:212,35:247:99:662,0,5929	20	0	1	0
chr12	11031068	11031068	C	T	exonic	TAS2R31	.	nonsynonymous SNV	TAS2R31:NM_176885:exon1:c.G268A:p.V90I,	.	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.345	B	0.196	B	.	.	1.000	N	0.86	L	5.77	T	-0.910	T	0.002	T	0.126	0.801	8.213	0.335	-0.058	-0.243	2.978	0.009	0.00174888578373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.567e-06	6.566e-06	0	1.344e-05	1.469e-05	0	0	.	.	0	0	0	0	0	0	0	1.469e-05	0	0	0.153	0.24372	T	0.382	0.15890	T	0.345	0.33546	B	0.196	0.36635	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	5.77	0.00687	T	-0.48	0.15379	N	0.192	0.21056	-0.9096	0.46904	T	0.002	0.00769	T	9	0.09746665	0.17557	T	0.001749	0.02960	T	0.009	0.00846	0.434	0.48500	0.15556083564	0.15200	0.029999303461076845	0.02948	0.0216781632593	0.02158	0.269209504128	0.06038	T	5.86E-4	0.00238	T	-0.341596	0.05278	T	-0.728455	0.04398	T	0.119674319438183	0.14398	T	.	.	.	0.060423117	0.12398	0.039411694	0.04027	0.060423117	0.12397	0.039411694	0.04026	-4.357	0.28968	T	.	.	0.091	0.12938	B	.	.	0.052239	0.04656	1.308	0.91414470407076442	0.20681	0.00516	0.02410	N	AEFBI	0.026033	0.01885	N	-0.973712413719705	0.09168	0.4327847	-1.10109023754353	0.07679	0.3745079	6.24120799716302E-5	0.04366	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.664235	0.64389	0	.	.	2.45	0.335	0.15193	-0.548000	0.06138	-20.000000	0.00162	-0.339000	0.05715	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2635:0.5719:0.0:0.1645	2.978	0.05581	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1630.98	311	chr12	11031068	.	C	T	1630.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.787;DP=5920;ExcessHet=0.0000;FS=5.077;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.72;MQRankSum=-7.398e+00;QD=4.52;ReadPosRankSum=-1.192e+00;SOR=0.996	GT:AD:DP:GQ:PL	0/0:202,0:202:99:0,120,1800	20	0	1	0
chr12	11091537	11091538	CA	-	exonic	TAS2R43	.	frameshift deletion	TAS2R43:NM_176884:exon1:c.692_693del:p.V231Dfs*37,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	1.21e-05	4.363e-05	1.214e-05	1.206e-05	8.1e-06	7.16e-06	5.8e-06	3.48e-06	2.52e-06	0	0	0.0003	0	0	0	8.1e-06	1.789e-05	0	7.363e-06	7.922e-05	0	1.515e-05	7.483e-05	0	0	.	.	0	0	7.483e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	944.94	285	chr12	11091536	.	TCA	T	944.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.118e+00;DP=4788;ExcessHet=0.0000;FS=1.580;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.85;MQRankSum=-1.203e+01;QD=5.91;ReadPosRankSum=1.47;SOR=0.765	GT:AD:DP:GQ:PL	0/0:303,0:303:99:0,120,1800	20	0	1	0
chr12	11092054	11092054	A	C	exonic	TAS2R43	.	nonsynonymous SNV	TAS2R43:NM_176884:exon1:c.T176G:p.L59R,	.	.	438	1059	25	0	0	25	0.0116659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	N	3.845	H	5.52	T	-1.068	T	0.020	T	0.672	1.856	12.17	1.97	0.902	1.323	5.865	0.097	0.000676087455412	0.0011	.	0.0026	0.0025	0.0019	0	0.0002	0.0035	0	0.0024	0.0024385	377	154602	rs199546416	0.0014	0.0063	0.0013	0.0016	0.0027	0.0014	0.0014	0.0017	0.0016	0.0006	0.0019	0.0014	0	0.0004	0.0027	0.0015	0.0012	0.0020	0.0041	0.0088	0.0040	0.0041	0.0051	0.0038	0.0037	0.0044	0.0042	0.0034	0.0138	0.0051	0.0059	0	0.0010	0.0037	0.0049	0.0028	0.0041	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.08975	N	3.78	0.95251	H	5.52	0.00903	T	-5.86	0.88561	D	0.751	0.75009	-1.0677	0.09926	T	0.020	0.08313	T	9	0.07676786	0.12033	T	6.76E-4	0.00383	T	0.097	0.27909	.	.	0.392239652056	0.38839	0.44651251719554647	0.44569	0.638325900956	0.57558	0.372237861156	0.21153	T	0.089147	0.38311	T	-0.00860295	0.50460	T	-0.250134	0.49803	T	0.225228488445282	0.21722	T	0.949205	0.80472	D	0.75837773	0.81358	0.6548802	0.79795	0.75837773	0.81359	0.6548802	0.79796	-9.046	0.67993	D	.	.	0.321	0.54609	B	.	.	2.448962	0.31530	18.77	0.99561732332247965	0.71831	0.02054	0.06135	N	AEFI	0.046242	0.07655	N	0.0533148695102071	0.44294	2.706165	-0.269043779314605	0.29123	1.629217	3.01214840759549E-5	0.03498	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.97	1.97	0.25278	1.889000	0.39352	1.309000	0.25526	0.399000	0.20540	0.021000	0.19753	0.000000	0.08366	0.007000	0.07825	1.0:0.0:0.0:0.0	5.865	0.18019	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	349.98	123	chr12	11092054	.	A	C	349.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.490e-01;DP=1831;ExcessHet=0.0000;FS=7.166;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.60;MQRankSum=-1.136e+01;QD=2.67;ReadPosRankSum=1.65;SOR=1.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,17:131:99:0|1:11092047_T_C:364,0,4533:11092047	20	0	1	0
chr12	11092088	11092088	G	0	exonic	TAS2R43	.	.	.	.	.	456	371	599	79	17	774	0.505003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	5986.12	144	chr12	11092088	.	G	C,*	5986.12	.	AC=17,3;AF=0.405,0.071;AN=42;BaseQRankSum=-1.327e+00;DP=2170;ExcessHet=8.0185;FS=6.574;InbreedingCoeff=-0.3364;MLEAC=17,3;MLEAF=0.405,0.071;MQ=56.75;MQRankSum=-8.550e+00;QD=3.41;ReadPosRankSum=1.78;SOR=1.189	GT:AD:DP:GQ:PL	0/2:59,19,64:142:99:2421,2045,3832,0,1368,2526	4	3	11	0
chr12	11133887	11133887	G	A	exonic	TAS2R30	.	nonsynonymous SNV	TAS2R30:NM_001097643:exon1:c.C358T:p.R120C,	.	.	420	1087	15	0	0	15	0.00685244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.064	B	0.022	B	.	.	1.000	N	0.915	L	5.77	T	-0.945	T	0.002	T	0.34	0.773	8.084	-2.89	-0.638	-0.575	7.842	0.038	.	0.0012	0.00279553	0.0026	0.0002	0.0006	0.0001	0	0.0016	0.0077	0.0114	0.0021474	332	154602	rs111498087	0.0013	0.0013	0.0009	0.0016	0.0102	0.0012	0.0012	0.0096	0.0094	8.961e-05	0.0008	0.0089	2.519e-05	3.744e-05	0.0099	0.0005	0.0018	0.0102	0.0011	0.0011	0.0010	0.0013	0.0116	0.0010	0.0009	0.0092	0.0083	9.63e-05	0	0.0012	0.0109	0	0	0.0034	0.0008	0.0005	0.0116	0.006	0.61437	D	0.063	0.45110	T	0.064	0.23455	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	5.77	0.00687	T	-2.74	0.58248	D	0.303	0.34228	-0.9446	0.41879	T	0.002	0.00769	T	9	0.0069731474	0.00159	T	.	.	.	0.038	0.09825	.	.	0.0401082797425	0.02173	0.12845158240615942	0.12770	0.0043736921062	0.00387	0.204710185528	0.00607	T	0.025155	0.18867	T	-0.243614	0.14890	T	-0.587711	0.13865	T	0.0145310332832924	0.00297	T	0.578742	0.20864	T	0.15769173	0.35517	0.16547804	0.38280	0.15769173	0.35517	0.16547804	0.38279	-2.912	0.09264	T	.	.	0.09	0.12607	B	.	.	1.222423	0.16164	12.36	0.87613906473598391	0.17354	0.00549	0.02518	N	AEFDBIJ	0.032021	0.03537	N	-1.1646577408448	0.05543	0.2529605	-1.29192008954591	0.04539	0.2143312	0.985699364611607	0.30932	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.7	-2.89	0.05326	-0.895000	0.04226	-11.767000	0.00577	-0.317000	0.05909	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.7074:0.0:0.2926:0.0	7.842	0.28563	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	6862.11	329	chr12	11133887	.	G	A	6862.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.77;DP=3638;ExcessHet=0.1072;FS=0.528;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.89;MQRankSum=1.24;QD=11.40;ReadPosRankSum=-3.600e-02;SOR=0.730	GT:AD:DP:GQ:PL	0/1:150,123:273:99:3281,0,3836	19	0	2	0
chr12	11267818	11267818	G	T	exonic	PRB3	.	nonsynonymous SNV	PRB3:NM_006249:exon3:c.C431A:p.P144Q,	.	.	723	790	7	0	2	9	0.00441084	.	.	2334745	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.26	T	0.998	D	0.887	P	0.186	U	1.000	N	.	.	3.03	T	-1.062	T	0.042	T	0.339	-0.899	0.440	0.143	0.065	-0.229	6.372	0.061	0.00114189385537	.	.	.	.	.	.	.	.	.	.	.	.	.	rs11054208	0.0080	0.0073	0.0083	0.0077	0.0095	0.0077	0.0076	0.0084	0.0082	0.0007	0.0033	0.0100	0.0043	0.0193	0.0095	0.0087	0.0076	0.0009	0.0049	0.0018	0.0049	0.0049	0.0075	0.0036	0.0031	0.0051	0.0044	0.0006	0	0.0015	0.0098	0.0058	0.0084	0	0.0075	0	0	.	.	.	0.006	0.76473	D	.	.	.	.	.	.	0.185600	0.16985	U	0.256476	0.999919	0.19599	N	.	.	.	3.03	0.09356	T	-1.08	0.28084	N	0.217	0.24260	-1.0624	0.11166	T	0.042	0.17910	T	9	0.0096514225	0.00217	T	0.001142	0.01410	T	0.061	0.17616	.	.	0.0482279557977	0.04254	0.2715663832854014	0.27069	0.308967699888	0.33215	0.349918544292	0.17909	T	0.078379	0.35877	T	-0.451337	0.01109	T	-0.426949	0.30281	T	0.515472710132599	0.33199	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.03964	B	.;.	.;.	-0.501618	0.01862	0.151	0.15388392824923505	0.00375	0.01705	0.05419	N	AEFBI	0.045288	0.07390	N	-0.835986777763414	0.12398	0.6040622	-1.1021909902097	0.07658	0.3733841	1.25647785645013E-5	0.02871	0.074636	0.01641	0	0.063388	0.01293	0	0.078618	0.02440	0	0.058706	0.01089	0	.	.	1.08	0.143	0.14116	0.003000	0.12984	-3.644000	0.02635	-4.013000	0.00047	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.7069:0.2931	6.372	0.20691	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	134.98	42	chr12	11267818	.	G	T	134.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.248;DP=1017;ExcessHet=0.0000;FS=8.169;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=29.51;MQRankSum=-2.127e+00;QD=3.29;ReadPosRankSum=-2.021e+00;SOR=2.194	GT:AD:DP:GQ:PL	0/0:13,0:13:39:0,39,479	20	0	1	0
chr12	11308825	11308825	G	T	exonic	PRB4	.	nonsynonymous SNV	PRB4:NM_001261399:exon3:c.C158A:p.P53H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.62	P	0.192	B	.	.	1.000	N	1.955	M	3.66	T	-1.017	T	0.013	T	0.201	-3.055	0.001	-1.24	-3.264	-3.724	.	0.038	0.000724737728306	.	.	8.342e-06	0	0	0	0	0	0	6.071e-05	6.5e-06	1	154602	rs145538331	0.0003	0.0091	0.0003	0.0003	0.0008	0.0002	0.0002	0.0006	0.0005	0.0005	0.0002	0.0007	0.0008	0.0004	0	0.0002	0.0005	3.579e-05	0.0008	0.0070	0.0008	0.0007	0.0013	0.0006	0.0006	0.0005	0.0005	0.0008	0	0.0009	0.0009	0.0007	0.0008	0	0.0006	0.0028	0.0013	0.086	0.32610	T	0.079	0.42086	T	0.62	0.39915	P	0.192	0.36449	B	.	.	.	.	1	0.08975	N	.	.	.	3.66	0.04228	T	-1.82	0.42763	N	0.189	0.24385	-1.0172	0.24625	T	0.013	0.04985	T	8	0.094213486	0.16733	T	7.25E-4	0.00472	T	0.038	0.09825	0.307	0.27806	0.0297737177859	0.01360	0.14867610920793883	0.14789	5.39720892046E-4	0.00050	.	.	.	0.009784	0.08886	T	-0.461542	0.00962	T	-0.717981	0.04894	T	0.0491737318569793	0.05354	T	0.30297	0.06003	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.05103	B	.;.;.;.	.;.;.;.	-1.486722	0.00303	0.005	0.13684848466116051	0.00278	0.00057	0.00426	N	AEFBI	0.022063	0.01057	N	-1.78961807863172	0.00571	0.02459707	-2.02858908995553	0.00266	0.01174935	0.00233645441564733	0.09333	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	0.618	-1.24	0.08948	-3.359000	0.00553	-12.909000	0.00492	-10.517000	0.00000	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	669.11	254	chr12	11308825	.	G	T	669.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.380e-01;DP=4187;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.52;MQRankSum=-1.044e+01;QD=1.21;ReadPosRankSum=-6.039e+00;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485	19	0	2	0
chr12	11353347	11353347	T	0	exonic	PRB1	.	.	.	.	.	9	207	2	0	8	10	0.00480769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3832.93	201	chr12	11353347	.	T	C,*	3832.93	.	AC=2,3;AF=0.067,0.100;AN=30;BaseQRankSum=1.82;DP=4251;ExcessHet=0.0840;FS=5.948;InbreedingCoeff=0.3842;MLEAC=3,4;MLEAF=0.100,0.133;MQ=54.28;MQRankSum=2.23;QD=4.99;ReadPosRankSum=2.17;SOR=0.499	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:313,0,0:313:0:.:.:0,0,0,0,0,0	11	0	2	6
chr12	11353413	11353413	G	0	exonic	PRB1	.	.	.	.	.	776	281	207	230	28	695	0.542718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6944	47416.68	201	chr12	11353413	.	G	A,*	47416.68	.	AC=22,3;AF=0.611,0.083;AN=36;BaseQRankSum=1.23;DP=4494;ExcessHet=0.6840;FS=7.239;InbreedingCoeff=0.1429;MLEAC=25,3;MLEAF=0.694,0.083;MQ=49.32;MQRankSum=0.484;QD=21.62;ReadPosRankSum=0.236;SOR=1.326	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,72,0:87:99:0|1:11353413_G_A:2381,0,102,2489,175,2816:11353413	2	8	6	3
chr12	11353469	11353469	A	0	exonic	PRB1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8214	21751.81	201	chr12	11353469	.	A	G,*	21751.81	.	AC=20,3;AF=0.714,0.107;AN=28;BaseQRankSum=1.20;DP=4073;ExcessHet=0.2102;FS=5.613;InbreedingCoeff=0.1459;MLEAC=26,4;MLEAF=0.929,0.143;MQ=51.75;MQRankSum=-5.705e+00;QD=18.93;ReadPosRankSum=-1.910e+00;SOR=1.241	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,29,0:44:99:0|1:11353413_G_A:1122,0,230,1162,174,1306:11353413	0	8	4	7
chr12	11353474	11353474	-	GGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT	exonic	PRB1	.	nonframeshift insertion	PRB1:NM_001367912:exon7:c.1434_1435insAAAGTCCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGTAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCAACAAGGAGGCAACAGACCTCAAGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAAGTCCC:p.E479delinsKVPDLLQESHKDHPHKEVTSPKVPHLLQESHKDHPNKEATDLKVPHLQESHKDHPHKETSPE,	.	.	531	945	7	0	39	46	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0036	0.0055	0.0042	0.0054	0.0017	0.0025	0	0.0074	.	.	.	.	0.0047	0.0049	0.0045	0.0050	0.0662	0.0046	0.0046	0.0612	0.0593	0.0040	0.0065	0.0131	0.0662	0.0167	0.0024	0.0033	0.0074	0.0029	0	8.638e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	16788.62	201	chr12	11353474	.	C	CGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT,*	16788.62	.	AC=7,3;AF=0.250,0.107;AN=28;BaseQRankSum=1.66;DP=3976;ExcessHet=0.0004;FS=2.665;InbreedingCoeff=0.5485;MLEAC=9,4;MLEAF=0.321,0.143;MQ=53.86;MQRankSum=-5.862e+00;QD=19.17;ReadPosRankSum=-4.300e-01;SOR=0.522	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:228,0,0:228:0:.:.:0,0,0,0,0,0	8	3	1	7
chr12	11353474	11353474	C	0	exonic	PRB1	.	.	.	.	.	531	945	7	0	39	46	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	16788.62	201	chr12	11353474	.	C	CGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT,*	16788.62	.	AC=7,3;AF=0.250,0.107;AN=28;BaseQRankSum=1.66;DP=3976;ExcessHet=0.0004;FS=2.665;InbreedingCoeff=0.5485;MLEAC=9,4;MLEAF=0.321,0.143;MQ=53.86;MQRankSum=-5.862e+00;QD=19.17;ReadPosRankSum=-4.300e-01;SOR=0.522	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:228,0,0:228:0:.:.:0,0,0,0,0,0	8	3	1	7
chr12	11353720	11353720	-	TGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	exonic	PRB1	.	nonframeshift insertion	PRB1:NM_001367912:exon5:c.1368_1369insAACCTCAGGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAAGTCCCAAAGTCCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGTAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCAACAAGGAGGCAACA:p.D457delinsNLRVPHLQESHKDHPHKETSPKVPDLLQESHKDHPHKEVTSPKVPHLLQESHKDHPNKEATD,	.	.	540	935	7	29	11	76	0.0335917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0085	0.0088	0.0081	0.0089	0.0159	0.0083	0.0083	0.0146	0.0141	0.0033	0.0083	0.0191	0.0159	0.0281	0.0146	0.0072	0.0123	0.0121	0.0005	0.0008	0.0005	0.0005	0.0004	0.0003	0.0002	0.0001	8.372e-05	0	0	0	0.0033	0	0.0067	0	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	26110.08	283	chr12	11353720	.	C	CTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	26110.08	.	AC=8;AF=0.444;AN=18;BaseQRankSum=2.31;DP=5960;ExcessHet=0.0002;FS=4.944;InbreedingCoeff=0.1416;MLEAC=12;MLEAF=0.667;MQ=48.22;MQRankSum=-2.223e+00;QD=32.60;ReadPosRankSum=-2.244e+00;SOR=0.850	GT:AD:DP:GQ:PL	./.:305,0:305:0:0,0,4327	4	3	2	12
chr12	11353950	11353950	-	G	exonic	PRB1	.	frameshift insertion	PRB1:NM_001367912:exon5:c.1138dupC:p.H380fs,	.	.	428	1088	6	0	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0002	0	0	0.0002	0	0.0008	0.0001876	29	154602	rs763410099	0.0002	0.0002	0.0002	0.0002	0.0011	0.0002	0.0002	0.0006	0.0005	3.119e-05	0.0005	0.0018	0	0	0.0011	0.0001	0.0003	0.0007	0.0002	0.0002	0.0002	0.0002	0.0011	0.0001	0.0001	0.0004	0.0003	0	0	7.042e-05	0.0027	0	0	0	0.0002	0	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4223.94	233	chr12	11353950	.	T	TG	4223.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.870e-01;DP=4623;ExcessHet=0.0000;FS=0.511;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.64;MQRankSum=-2.261e+00;QD=20.31;ReadPosRankSum=1.78;SOR=0.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:279,0:279:99:.:.:0,120,1800	20	0	1	0
chr12	11393447	11393447	T	G	exonic	PRB1;PRB2	.	nonsynonymous SNV	PRB1:NM_001367912:exon3:c.A631C:p.K211Q	.	.	640	879	1	0	2	3	0.000568505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.938	P	0.261	B	0.085	N	1.000	N	-0.6	N	3.63	T	-0.985	T	0.006	T	0.16	-0.279	2.662	.	0.149	-2.591	.	0.040	0.00438014170682	0.0021	.	0.0027	0.0004	0.0036	0	0.0038	0.0036	0.0012	7.867e-05	3.84e-05	1	26028	rs201455726	0.0033	0.0029	0.0034	0.0033	0.0037	0.0032	0.0032	0.0036	0.0036	0.0003	0.0025	0.0018	0.0001	0.0052	0.0037	0.0037	0.0033	2.832e-05	0.0030	0.0023	0.0031	0.0029	0.0050	0.0026	0.0024	0.0034	0.0028	0.0008	0	0.0050	0.0009	0.0010	0.0032	0	0.0036	0.0036	0.0014	.	.	.	0.651	0.06713	T	.	.	.	.	.	.	0.085243	0.02397	N	3.389640	1	0.08975	N	.	.	.	3.63	0.04353	T	0.09	0.05917	N	0.095	0.07535	-0.9849	0.33856	T	0.006	0.02055	T	8	0.0073294938	0.00167	T	0.00438	0.10687	T	0.040	0.10527	.	.	0.0401082797425	0.02173	0.07957911752622204	0.07892	0.0701758770016	0.07856	.	.	.	.	.	.	-0.654091	0.00068	T	-0.714122	0.05085	T	0.00657906044498946	0.00074	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.20157	B	.	.	-0.812920	0.01082	0.048	0.8978738288858088	0.19100	0.00282	0.01521	N	AEFBI	0.023052	0.01233	N	-1.03262680737093	0.07932	0.3702259	-1.16788802482514	0.06453	0.3106525	1.67353462662097E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	.	.	.	-2.604000	0.00964	-8.793000	0.00913	-2.417000	0.00290	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2005.98	39	chr12	11393447	.	T	G	2005.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.530e+00;DP=3927;ExcessHet=0.0000;FS=1.239;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=51.08;MQRankSum=4.06;QD=4.94;ReadPosRankSum=-3.240e-01;SOR=0.588	GT:AD:DP:GQ:PL	0/0:328,0:328:99:0,120,1800	20	0	1	0
chr12	11393566	11393566	C	T	exonic	PRB1;PRB2	.	nonsynonymous SNV	PRB1:NM_001367912:exon3:c.G512A:p.R171Q	.	.	418	1099	5	0	0	5	0.00226963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.032	B	0.001	B	0.485	N	1.000	N	-1.385	N	3.69	T	-0.916	T	0.002	T	0.032	0.126	4.680	-0.371	-0.261	-1.783	4.731	0.015	.	0.0103	.	0.0072	0.0023	0.0052	0.0002	0.0015	0.0111	0.0056	0.0019	0.0053788	140	26028	rs192416830	0.0030	0.0031	0.0028	0.0031	0.0034	0.0029	0.0029	0.0033	0.0032	0.0008	0.0020	0.0036	0.0003	0.0016	0.0009	0.0034	0.0041	0.0010	0.0026	0.0029	0.0027	0.0025	0.0045	0.0024	0.0023	0.0040	0.0038	0.0007	0	0.0021	0.0023	0	0.0009	0	0.0045	0.0006	0	.	.	.	0.509	0.10857	T	.	.	.	.	.	.	0.484767	0.12125	N	0.536286	0.999876	0.19925	N	.	.	.	3.69	0.04114	T	0.26	0.04380	N	0.083	0.05929	-0.9161	0.46076	T	0.002	0.00615	T	10	0.0057946444	0.00129	T	.	.	.	0.015	0.02232	.	.	0.0297737177859	0.01360	0.04404440905227383	0.04348	0.075177927071	0.08431	.	.	.	.	.	.	-0.81108	0.00006	T	-0.922242	0.00367	T	0.00081045146348787	0.00008	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.07318	B	.	.	-0.189255	0.03145	0.508	0.60636780483411012	0.06511	0.00038	0.00324	N	AEFBI	0.013902	0.00201	N	-1.57540296048971	0.01392	0.06067434	-1.58340619829168	0.01757	0.07990812	2.16792815031699E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.3	-0.371	0.11902	-1.075000	0.03534	-3.948000	0.02434	-1.078000	0.01575	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2173:0.0:0.7827	4.731	0.12344	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	691.98	39	chr12	11393566	.	C	T	691.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=4061;ExcessHet=0.0000;FS=0.518;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.69;MQRankSum=-9.793e+00;QD=2.08;ReadPosRankSum=-4.100e-02;SOR=0.691	GT:AD:DP:GQ:PL	0/0:328,0:328:99:0,120,1800	20	0	1	0
chr12	11393697	11393816	GTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTCGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTTT	-	exonic	PRB1;PRB2	.	nonframeshift deletion	PRB1:NM_001367912:exon3:c.262_381del:p.88_127del	.	.	430	1075	15	0	2	17	0.00692841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0001	0	0.0004	.	.	.	.	0.0002	0.0003	0.0002	0.0003	0.0013	0.0002	0.0002	0.0011	0.0010	0	0.0001	0.0004	5.436e-05	0.0003	0.0002	0.0001	0.0003	0.0013	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	0.0001	0.0016	0.0003	0	0	0	0.0072	0.0003	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	600.94	39	chr12	11393696	.	GGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTCGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTTT	G	600.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.59;DP=5652;ExcessHet=0.0000;FS=2.889;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.09;MQRankSum=-5.618e+00;QD=1.62;ReadPosRankSum=-8.238e+00;SOR=0.862	GT:AD:DP:GQ:PL	0/0:328,0:328:99:0,120,1800	20	0	1	0
chr12	11393752	11393752	C	T	exonic	PRB1;PRB2	.	nonsynonymous SNV	PRB1:NM_001367912:exon3:c.G326A:p.R109Q	.	.	453	1033	18	0	18	36	0.00863724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.092	B	0.002	B	.	.	1.000	P	-1.8	N	3.71	T	-0.976	T	0.003	T	0.093	-1.118	0.127	-2.46	-2.070	-1.294	2.776	0.019	.	.	.	0.4222	0.2431	0.4094	0.3162	0.4681	0.4602	0.4311	0.4099	0.001191	31	26028	rs76832300	0.0113	0.0066	0.0104	0.0122	0.0191	0.0110	0.0109	0.0142	0.0125	0.0010	0.0068	0.0437	0.0017	0.0087	0.0191	0.0124	0.0117	0.0094	0.0087	0.0079	0.0086	0.0089	0.0136	0.0081	0.0079	0.0125	0.0120	0.0022	0.0107	0.0066	0.0235	0.0024	0.0078	0.0116	0.0136	0.0022	0.0117	.	.	.	0.637	0.07037	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	3.71	0.04046	T	-0.04	0.07590	N	0.039	0.01274	-0.9762	0.35860	T	0.003	0.00994	T	8	0.0032245219	0.00055	T	.	.	.	0.019	0.03383	.	.	.	.	0.039606789593714	0.03906	0.075177927071	0.08431	.	.	.	.	.	.	-0.741699	0.00020	T	-0.813109	0.01597	T	0.00107057250001736	0.00010	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05274	B	.	.	-0.084743	0.03731	0.770	0.4266095456056942	0.03160	0.00029	0.00276	N	AEFBI	0.015596	0.00305	N	-2.03367369516568	0.00179	0.00766595	-2.0562362833855	0.00232	0.01022055	5.2484378870243E-5	0.04171	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.23	-2.46	0.06089	-2.259000	0.01260	-0.374000	0.09587	-0.815000	0.03024	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.2053:0.2954:0.0:0.4994	2.776	0.05019	982	0.03397	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.09091	710.75	39	chr12	11393752	.	C	T,*	710.75	.	AC=1,1;AF=0.045,0.045;AN=22;BaseQRankSum=-4.698e+00;DP=7366;ExcessHet=0.1072;FS=2.715;InbreedingCoeff=-0.2000;MLEAC=2,2;MLEAF=0.091,0.091;MQ=55.98;MQRankSum=-1.338e+01;QD=1.03;ReadPosRankSum=3.01;SOR=0.904	GT:AD:DP:GQ:PL	./.:525,0,0:525:0:0,0,10757,0,10757,10757	9	0	1	10
chr12	11393752	11393752	C	0	exonic	PRB1;PRB2	.	.	.	.	.	453	1033	18	0	18	36	0.00863724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09091	710.75	39	chr12	11393752	.	C	T,*	710.75	.	AC=1,1;AF=0.045,0.045;AN=22;BaseQRankSum=-4.698e+00;DP=7366;ExcessHet=0.1072;FS=2.715;InbreedingCoeff=-0.2000;MLEAC=2,2;MLEAF=0.091,0.091;MQ=55.98;MQRankSum=-1.338e+01;QD=1.03;ReadPosRankSum=3.01;SOR=0.904	GT:AD:DP:GQ:PL	./.:525,0,0:525:0:0,0,10757,0,10757,10757	9	0	1	10
chr12	11752481	11752481	G	A	exonic	ETV6	.	nonsynonymous SNV	ETV6:NM_001987:exon2:c.G65A:p.S22N,	Leukemia, acute myeloid, somatic;Thrombocytopenia 5, Autosomal dominant	.	10	1510	2	0	0	2	0.000661813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.023	B	0.01	B	0.000	D	0.998	D	0.55	N	3.12	T	-1.002	T	0.021	T	0.217	2.825	15.41	5.73	2.708	6.746	19.494	0.061	0.0107655029751	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1300012416	1.505e-05	1.505e-05	1.634e-05	1.375e-05	2.319e-05	9.85e-06	8.42e-06	1.093e-05	8.81e-06	0	0	0	0	0	0	1.709e-05	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.17761	T	0.26	0.23029	T	0.023	0.18885	B	0.01	0.14941	B	0.000008	0.62929	D	0.143629	0.99815	0.44569	D	1.01	0.25309	L	3.12	0.08106	T	-1.12	0.28906	N	0.676	0.68342	-1.0024	0.29226	T	0.021	0.08732	T	10	0.35166794	0.52012	T	0.010766	0.27684	T	0.061	0.17616	0.243	0.17677	0.286597616719	0.28274	0.45043701413896897	0.44961	0.297816076613	0.32164	0.730234026909	0.71540	T	0.398266	0.75641	T	-0.222163	0.17700	T	-0.541412	0.18158	T	0.363117247819901	0.27531	T	0.838016	0.51077	T	0.37152702	0.58697	0.17770234	0.40389	0.37152702	0.58698	0.17770234	0.40389	-8.477	0.64277	D	.	.	0.258	0.49275	B	.	.	3.714881	0.53052	23.3	0.99123216391727242	0.53037	0.96199	0.67990	D	AEFDGBI	0.742291	0.68596	D	0.0696564082688001	0.45052	2.768241	0.294359754106588	0.55207	3.684187	0.999999999987762	0.74766	0.75658	0.98901	0	0.601644	0.50151	0	0.858454	0.99976	0	0.714379	0.83352	0	.	.	5.73	5.73	0.89730	7.230000	0.77568	11.817000	0.97118	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.494	0.95058	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1985.98	34	chr12	11752481	.	G	A	1985.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.480e-01;DP=852;ExcessHet=0.0000;FS=2.812;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.57;ReadPosRankSum=-5.440e-01;SOR=0.901	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1213	20	0	1	0
chr12	12079679	12079679	C	T	exonic	BCL2L14	.	nonsynonymous SNV	BCL2L14:NM_030766:exon2:c.C374T:p.S125L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	B	0.001	B	0.000	N	1.000	N	1.245	L	.	.	-1.071	T	0.069	T	0.067	2.110	13.01	-6.2	-2.236	-2.091	1.944	0.051	0.00283400901041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.788e-06	4.788e-06	2.722e-06	6.875e-06	3.597e-06	1.99e-06	1.28e-06	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	4.967e-05	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0001	2.18e-06	8.2e-07	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	0	0	0	0.107	0.30656	T	0.092	0.40110	T	0.002	0.09854	B	0.001	0.04355	B	0.000014	0.00162	N	18.595300	1	0.08975	N	0.895	0.22405	L	.	.	.	-0.42	0.44852	N	0.064	0.06854	-1.0711	0.09173	T	0.069	0.28213	T	8	0.09232676	0.16248	T	0.002834	0.05927	T	0.051	0.14325	0.305	0.27485	0.466398759226	0.46266	0.06820604706504414	0.06758	0.117798957203	0.13266	0.243245497346	0.03090	T	0.004769	0.29884	T	-0.363716	0.03924	T	-0.760229	0.03104	T	0.126384019810022	0.15044	T	.	.	.	0.03647102	0.04493	0.042878274	0.05207	0.03647102	0.04493	0.042878274	0.05206	-3.2	0.12480	T	.	.	0.096	0.22680	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.213501	0.00517	0.012	0.97617689380866945	0.34943	0.00296	0.01581	N	AEFGBI	0.039833	0.05841	N	-1.55336488752347	0.01515	0.0661624	-1.71061403216058	0.01091	0.04900643	0.848593234499879	0.25001	0.581397	0.33459	0	0.588066	0.40923	0	0.565031	0.19037	0	0.613276	0.41899	0	.	.	3.1	-6.2	0.01894	-1.918000	0.01665	-7.054000	0.01242	-1.731000	0.00715	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1317:0.1433:0.2414:0.4836	1.944	0.03149	957	0.09725	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1013.98	33	chr12	12079679	.	C	T	1013.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.090e-01;DP=792;ExcessHet=0.0000;FS=3.855;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=0.951;SOR=1.129	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1120	20	0	1	0
chr12	12149125	12149125	G	A	exonic	LRP6	.	nonsynonymous SNV	LRP6:NM_002336:exon14:c.C3023T:p.P1008L,	Tooth agenesis, selective, 7, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.175	B	0.03	B	0.001	U	1.000	D	-0.625	N	-2.81	D	-0.340	T	0.448	T	0.452	1.622	11.38	5.91	2.804	3.476	20.301	0.370	0.0604175544044	.	.	6.589e-05	0	8.637e-05	0	0	0.0001	0	0	5.17e-05	8	154602	rs763102419	3.078e-05	3.078e-05	3.131e-05	3.025e-05	3.777e-05	2.347e-05	2.095e-05	2.828e-05	2.507e-05	0	2.236e-05	0	0	0	0	3.777e-05	3.312e-05	0	3.291e-05	3.285e-05	2.573e-05	4.043e-05	7.255e-05	1.262e-05	7.99e-06	1.924e-05	1.033e-05	7.255e-05	0	6.563e-05	0	0	0	0	1.471e-05	0	0	0.086	0.32610	T	0.305	0.20037	T	0.175	0.28858	B	0.03	0.21741	B	0.000559	0.43413	U	0.098576	0.999618	0.47849	D	0.115	0.08564	N	-2.81	0.91134	D	-1.77	0.41809	N	0.229	0.25745	-0.3401	0.73841	T	0.448	0.78324	T	10	0.18688467	0.34174	T	0.060418	0.67993	D	0.370	0.68930	0.538	0.64874	0.535826458596	0.53234	0.4639593161778009	0.46314	0.534637665634	0.50860	0.593390226364	0.51973	T	0.444779	0.78805	T	-0.0713853	0.41103	T	-0.135766	0.60483	T	0.0832841446421765	0.10402	T	.	.	.	0.037954926	0.04964	0.072655015	0.15698	0.037954926	0.04964	0.072655015	0.15698	-3.579	0.17553	T	.	.	0.096	0.23952	B	.;.	.;.	3.273827	0.44829	22.0	0.97160680536740718	0.32629	0.96514	0.69520	D	AEFDBI	0.304781	0.41238	N	-0.259400883574338	0.30730	1.716219	-0.0344629152912917	0.38169	2.245008	0.701091624491579	0.22701	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	2.458000	0.44671	5.880000	0.50633	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.909000	0.44452	0.0:0.0:1.0:0.0	20.301	0.98613	955	0.09969	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1190.98	34	chr12	12149125	.	G	A	1190.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=900;ExcessHet=0.0000;FS=3.145;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.47;ReadPosRankSum=-1.205e+00;SOR=1.091	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr12	12338471	12338471	C	T	exonic	MANSC1	.	nonsynonymous SNV	MANSC1:NM_018050:exon3:c.G313A:p.A105T	.	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.003	N	0.973	D	1.78	L	1.9	T	-0.741	T	0.136	T	0.452	4.683	25.9	4.87	1.399	4.367	12.059	0.258	0.0517216594439	7.7e-05	.	0.0003	0	0.0002	0	0	8.991e-05	0.0022	0.0013	0.000207	32	154602	rs374905258	0.0001	0.0001	7.764e-05	0.0002	0.0013	0.0001	0.0001	0.0011	0.0011	0	4.507e-05	0	0	1.872e-05	0.0007	5.937e-05	9.941e-05	0.0013	5.908e-05	5.905e-05	2.569e-05	9.396e-05	0.0008	3.074e-05	2.208e-05	0.0003	0.0002	2.405e-05	0	0	0	0	0	0	5.879e-05	0	0.0008	0.009	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	0.002885	0.35770	N	0.000000	0.972847	0.38978	D	2.505	0.72935	M	1.9	0.23486	T	-1.52	0.38924	N	0.598	0.69037	-0.7412	0.58391	T	0.136	0.45145	T	10	0.1603621	0.30108	T	0.051722	0.64779	D	0.258	0.56959	.	.	0.186928172975	0.18263	0.5012258424037859	0.50044	0.461961472074	0.45731	0.387817978859	0.23362	T	0.090259	0.43601	T	-0.357393	0.04279	T	-0.321525	0.42408	T	0.10678161320104	0.13087	T	.	.	.	0.12369551	0.29039	0.132531	0.31801	0.12369551	0.29039	0.132531	0.31800	-4.167	0.31019	T	.	.	0.385	0.62562	A	.;.;.	.;.;.	4.395497	0.67869	25.2	0.99929789744060382	0.99279	0.65087	0.32620	D	AEFGBHCI	0.568873	0.57388	D	0.598968250114683	0.73108	5.912856	0.581860089813913	0.73640	6.003669	0.999999988369095	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.56214	0.19341	0	.	.	5.78	4.87	0.62877	4.793000	0.62168	4.827000	0.45167	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1722:0.8278:0.0:0.0	12.059	0.52846	586	0.69252	Seven cysteines, N-terminal|MANSC domain|Seven cysteines, N-terminal;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1794.98	33	chr12	12338471	.	C	T	1794.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.39;DP=834;ExcessHet=0.0000;FS=0.612;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=-1.165e+00;SOR=0.614	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1130	20	0	1	0
chr12	12477735	12477735	C	0	exonic	DUSP16	.	.	.	.	.	435	893	140	11	43	205	0.0831622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	734.67	33	chr12	12477735	.	C	T,*	734.67	.	AC=1,4;AF=0.025,0.100;AN=40;BaseQRankSum=3.48;DP=1239;ExcessHet=1.1607;FS=0.000;InbreedingCoeff=-0.1507;MLEAC=1,4;MLEAF=0.025,0.100;MQ=60.00;MQRankSum=0.00;QD=1.62;ReadPosRankSum=-1.694e+00;SOR=0.736	GT:AD:DP:GQ:PL	0/0:34,0,0:34:99:0,99,1228,99,1228,1228	15	0	1	1
chr12	12908649	12908649	A	G	exonic	GPRC5A	.	nonsynonymous SNV	GPRC5A:NM_003979:exon2:c.A400G:p.I134V,	.	.	427	1073	22	0	0	22	0.0101476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.139	B	0.026	B	0.340	N	1.000	N	1.445	L	-2.29	D	-0.747	T	0.355	T	0.153	0.404	6.195	1.59	0.366	1.019	6.596	0.113	0.0232343930119	0.0068	0.00279553	0.0063	0.0011	0.0058	0	0.0018	0.0097	0.0033	0.0015	0.0063324	979	154602	rs146456083	0.0081	0.0081	0.0082	0.0080	0.0118	0.0080	0.0080	0.0095	0.0091	0.0013	0.0061	0.0160	0	0.0023	0.0118	0.0093	0.0080	0.0018	0.0059	0.0059	0.0062	0.0055	0.0095	0.0056	0.0054	0.0089	0.0086	0.0013	0.0033	0.0060	0.0130	0.0006	0.0016	0.0272	0.0095	0.0080	0.0029	0.053	0.38863	T	0.429	0.15842	T	0.139	0.27501	B	0.026	0.20792	B	0.340148	0.13976	N	0.710623	1	0.08975	N	1.95	0.52479	M	-2.29	0.87591	D	-0.4	0.13805	N	0.098	0.07949	-0.7468	0.58102	T	0.355	0.71774	T	10	0.009804606	0.00220	T	0.023234	0.46189	T	0.113	0.31778	.	.	0.459282285925	0.45551	0.09799676066710526	0.09730	0.0405854047819	0.04348	0.284715533257	0.08158	T	0.255836	0.62667	T	-0.357346	0.04282	T	-0.278117	0.46998	T	0.00653458727677705	0.00073	T	0.691931	0.30130	T	0.07007527	0.15406	0.055050515	0.09583	0.07007527	0.15406	0.055050515	0.09582	-3.403	0.15097	T	.	.	0.101	0.23465	B	.;.;.	.;.;.	1.161654	0.15504	11.90	0.86613532475089228	0.16654	0.55143	0.29790	D	AEFGBHCI	0.228861	0.35247	N	-0.552226736514286	0.20414	1.07596	-0.49246902524428	0.22361	1.214123	0.999998467325783	0.74766	0.722319	0.85440	0	0.610034	0.51514	0	0.547309	0.15389	0	0.735409	0.98432	0	.	.	5.63	1.59	0.22622	1.045000	0.29951	1.298000	0.25456	0.756000	0.94297	0.980000	0.35271	0.685000	0.26142	0.203000	0.21983	0.4074:0.3099:0.0:0.2827	6.596	0.21869	923	0.18507	GPCR family 3, C-terminal;GPCR family 3, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3371.98	33	chr12	12908649	.	A	G	3371.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.266e+00;DP=1186;ExcessHet=0.0000;FS=5.101;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.71;ReadPosRankSum=0.854;SOR=0.584	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1306	20	0	1	0
chr12	12949548	12949564	GGCATTGCCTTGTAAAG	-	exonic	GPRC5D	.	frameshift deletion	GPRC5D:NM_018654:exon1:c.821_837del:p.P274Lfs*24,	.	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0038	0.00119808	0.0035	0.0012	0.0005	0	0.0014	0.0053	0.0011	0.0021	0.000461	12	26028	rs576323196	0.0052	0.0052	0.0053	0.0051	0.0062	0.0051	0.0050	0.0061	0.0061	0.0007	0.0009	0.0010	0	0.0018	0.0040	0.0062	0.0040	0.0020	0.0030	0.0031	0.0033	0.0028	0.0055	0.0028	0.0027	0.0050	0.0049	0.0008	0	0.0009	0.0012	0	0.0017	0.0068	0.0055	0.0047	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3485.94	40	chr12	12949547	.	AGGCATTGCCTTGTAAAG	A	3485.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.600e-02;DP=908;ExcessHet=0.0000;FS=2.537;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.74;ReadPosRankSum=2.06;SOR=0.631	GT:AD:DP:GQ:PL	0/1:93,93:186:99:3500,0,3592	20	0	1	0
chr12	13061668	13061668	T	C	exonic	FAM234B	.	nonsynonymous SNV	FAM234B:NM_020853:exon4:c.T626C:p.I209T,	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.328	B	0.154	B	0.037	N	0.715	N	1.04	L	0.82	T	-0.851	T	0.116	T	0.435	3.193	16.69	5.58	2.119	5.500	15.765	0.169	0.0151561401854	7.7e-05	.	4.955e-05	0	0	0	0	9.011e-05	0	0	4.53e-05	7	154602	rs375243163	2.668e-05	2.668e-05	3.131e-05	2.2e-05	0.0012	1.997e-05	1.754e-05	0.0006	0.0004	2.987e-05	2.236e-05	0	0	0	0.0012	1.889e-05	9.936e-05	3.478e-05	5.914e-05	5.91e-05	6.423e-05	5.38e-05	7.348e-05	3.077e-05	2.21e-05	2.846e-05	1.858e-05	0	0	0	0	0	0	0.0032	7.348e-05	0.0014	0	0.008	0.58626	D	0.008	0.67890	D	0.328	0.33195	B	0.154	0.34351	B	0.036710	0.24488	N	0.471906	0.714731	0.29980	N	.	.	.	0.82	0.48142	T	-1.98	0.45769	N	0.599	0.61764	-0.8509	0.51905	T	0.116	0.40942	T	10	0.36783433	0.53242	T	0.015156	0.35730	T	0.169	0.43123	.	.	0.345405024496	0.34151	0.8896466829034507	0.88934	0.170968623784	0.19261	0.422103196383	0.28126	T	0.035819	0.23866	T	-0.197878	0.21111	T	-0.341719	0.40149	T	0.160378777857773	0.17900	T	.	.	.	0.13663888	0.31667	0.1443496	0.34273	0.13663888	0.31666	0.1443496	0.34272	-6.732	0.52051	T	.	.	0.494	0.64293	A	.	.	3.824273	0.55237	23.6	0.99509033786365042	0.68499	0.87286	0.46779	D	ALL	0.434716	0.49565	N	0.144372939363275	0.48546	3.065543	0.293421248153656	0.55153	3.678805	0.999999999999936	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.58	5.58	0.84361	5.500000	0.66660	7.902000	0.73606	0.665000	0.62972	0.999000	0.42656	0.998000	0.33993	0.994000	0.71098	0.0:0.0:0.0:1.0	15.765	0.77890	835	0.38313	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2553.98	37	chr12	13061668	.	T	C	2553.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.172;DP=1668;ExcessHet=0.0000;FS=3.916;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=-1.237e+00;SOR=0.477	GT:AD:DP:GQ:PL	0/0:124,0:124:99:0,120,1800	20	0	1	0
chr12	14424331	14424331	T	G	exonic	ATF7IP	.	nonsynonymous SNV	ATF7IP:NM_001286514:exon2:c.T416G:p.L139R	.	.	428	1093	1	0	0	1	0.000457247	.	.	753265	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.95	P	0.735	P	0.055	N	1.000	N	1.61	L	2.11	T	-1.077	T	0.078	T	0.45	2.931	15.77	2.14	0.324	0.624	6.618	0.044	0.0139356066482	7.7e-05	0.000998403	0.0009	0	0.0002	0	0	0.0004	0.0011	0.0044	0.000718	111	154602	rs200853057	0.0004	0.0004	0.0002	0.0005	0.0041	0.0003	0.0003	0.0038	0.0036	0	0.0003	0.0014	0	0	0.0007	0.0001	0.0002	0.0041	0.0002	0.0002	0.0002	0.0003	0.0041	0.0002	0.0001	0.0027	0.0023	0	0	0.0001	0.0009	0	0	0	0.0001	0.0009	0.0041	0.02	0.51853	D	0.09	0.40267	T	0.184	0.53885	B	0.08	0.54226	B	0.054767	0.22697	N	0.232210	1	0.08975	N	1.1	0.28011	L	2.06	0.25841	T	-0.43	0.38734	N	0.214	0.55713	-1.0768	0.07983	T	0.078	0.31224	T	10	0.0038289428	0.00072	T	0.013936	0.33715	T	0.044	0.11924	.	.	0.189391138174	0.18552	0.07848003749467096	0.07783	0.720120029527	0.62163	0.36142039299	0.19593	T	0.012936	0.18124	T	-0.467259	0.00884	T	-0.443969	0.28364	T	0.0310960948408317	0.02161	T	0.69643	0.31676	T	0.17173077	0.37823	0.10193949	0.24417	0.17173077	0.37823	0.10193949	0.24416	-7.036	0.54325	T	.	.	0.090	0.13456	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.199451	0.28050	17.67	0.99210803677966208	0.55594	0.20814	0.21178	N	AEFBI	0.088177	0.17876	N	-0.486386770105196	0.22526	1.203425	-0.633049650873174	0.18647	0.9970122	0.779452210344289	0.23814	0.722319	0.85440	0	0.702456	0.74545	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	4.54	2.14	0.26518	0.078000	0.14615	0.273000	0.16680	0.651000	0.53179	0.000000	0.06391	0.036000	0.21445	0.026000	0.12556	0.0:0.2986:0.0:0.7014	6.618	0.21980	889	0.27310	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2395.98	34	chr12	14424331	.	T	G	2395.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.746e+00;DP=888;ExcessHet=0.0000;FS=0.540;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=-2.060e-01;SOR=0.770	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1141	20	0	1	0
chr12	14424747	14424747	G	A	exonic	ATF7IP	.	nonsynonymous SNV	ATF7IP:NM_001286514:exon2:c.G832A:p.E278K	.	.	437	1081	3	1	0	5	0.00230734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.004	B	0.011	B	0.448	N	1.000	N	1.61	L	2.16	T	-1.045	T	0.038	T	0.238	1.366	10.50	3.42	1.323	0.096	4.727	0.017	.	0.0023	0.00738818	0.0066	0.0005	0.0048	0.0161	0.0119	0.0040	0.0066	0.0147	0.0062936	973	154602	rs2231908	0.0056	0.0056	0.0054	0.0058	0.0132	0.0055	0.0055	0.0125	0.0123	0.0009	0.0040	0.0058	0.0114	0.0094	0.0016	0.0049	0.0057	0.0132	0.0044	0.0044	0.0039	0.0049	0.0148	0.0041	0.0040	0.0122	0.0112	0.0006	0	0.0037	0.0075	0.0148	0.0115	0	0.0042	0.0090	0.0128	0.005	0.63226	D	0.285	0.23029	T	0.001	0.09854	B	0.003	0.11217	B	0.447527	0.12549	N	0.732867	1	0.08975	N	1.175	0.29870	L	2.12	0.23884	T	0.22	0.29114	N	0.055	0.02861	-1.0446	0.15942	T	0.038	0.16203	T	10	0.002712816	0.00042	T	.	.	.	0.017	0.02790	.	.	0.377143385212	0.37329	0.10561298275841698	0.10491	0.380324370331	0.39403	0.260844439268	0.04991	T	0.007964	0.16293	T	-0.531306	0.00377	T	-0.523637	0.19927	T	0.0151401533584377	0.00330	T	0.752925	0.40508	T	0.06725881	0.14548	0.05915245	0.11054	0.06725881	0.14548	0.05915245	0.11054	-5.335	0.40415	T	.	.	0.071	0.22825	B	.;.;.;.;.;.	.;.;.;.;.;.	1.920081	0.24388	16.38	0.93794750339308131	0.23760	0.08274	0.14224	N	AEFBI	0.045918	0.07565	N	-0.705733435733765	0.15860	0.803059	-0.736701423087965	0.16049	0.8472101	0.965485888128367	0.28834	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.39	3.42	0.38259	0.119000	0.15456	3.213000	0.36811	0.676000	0.76740	0.000000	0.06391	0.998000	0.33993	0.911000	0.44643	0.1204:0.0:0.6744:0.2053	4.727	0.12326	889	0.27310	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	6332.11	34	chr12	14424747	.	G	A	6332.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.042;DP=1234;ExcessHet=0.1072;FS=1.770;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=0.472;SOR=0.881	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1141	19	0	2	0
chr12	14460626	14460626	A	T	exonic	ATF7IP	.	nonsynonymous SNV	ATF7IP:NM_001286514:exon9:c.A2287T:p.T763S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	B	0.019	B	0.063	N	0.879	D	0.69	N	2.09	T	-1.014	T	0.025	T	0.093	2.066	12.87	-2.01	-0.113	1.580	8.068	0.032	0.00754625162538	.	.	3.295e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs774754166	1.094e-05	1.094e-05	2.722e-06	1.925e-05	0.0002	6.48e-06	5.24e-06	9.791e-05	7.838e-05	0	0	0	0	0	0	0	3.311e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.18889	T	0.326	0.18789	T	0.012	0.19556	B	0.015	0.18783	B	0.062741	0.22077	N	0.456359	0.879176	0.35715	D	0.9	0.23182	L	2.08	0.20255	T	0.34	0.14588	N	0.235	0.33687	-1.0143	0.25561	T	0.025	0.10910	T	9	0.0546906	0.05863	T	0.007546	0.20033	T	0.032	0.07718	0.115	0.02372	0.228066490088	0.22430	0.21715274332915255	0.21631	0.13624951485	0.15368	0.373093783855	0.21275	T	0.014276	0.12184	T	-0.471843	0.00828	T	-0.641247	0.09578	T	0.0222949326257607	0.00942	T	0.616838	0.23625	T	0.026614804	0.01741	0.04281301	0.05186	0.026614804	0.01740	0.04281301	0.05186	-3.469	0.16237	T	.	.	0.077	0.08272	B	.;.;.;.;.	.;.;.;.;.	1.343983	0.17510	13.20	0.86590231282571706	0.16638	0.76592	0.37576	D	AEFDBHI	0.059709	0.11298	N	-0.658528858303904	0.17212	0.8837801	-0.525264917712009	0.21468	1.161503	0.00247477623575484	0.09461	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.02	-2.01	0.07003	1.582000	0.36177	2.900000	0.35444	-0.054000	0.16847	1.000000	0.71638	0.995000	0.32472	0.984000	0.60418	0.4829:0.0:0.0615:0.4556	8.068	0.29835	798	0.45050	ATF7-interacting protein , protein binding domain;.;.;.;ATF7-interacting protein , protein binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2646.98	37	chr12	14460626	.	A	T	2646.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=878;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.54;ReadPosRankSum=-4.570e-01;SOR=0.681	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1089	20	0	1	0
chr12	14536627	14536627	G	T	exonic	PLBD1	.	nonsynonymous SNV	PLBD1:NM_024829:exon5:c.C642A:p.N214K,	.	.	432	1088	1	1	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.93	T	0.08	B	0.037	B	0.695	N	1.000	N	1.2	L	2.32	T	-0.976	T	0.032	T	0.02	-0.552	1.500	1.65	0.302	-0.296	8.405	0.020	.	.	0.00339457	0.0016	9.61e-05	0	0	0	0	0	0.0116	0.0013907	215	154602	rs200233914	0.0007	0.0007	0.0004	0.0011	0.0117	0.0007	0.0007	0.0111	0.0108	5.974e-05	2.236e-05	0	7.557e-05	0	0.0005	3.597e-06	0.0006	0.0117	0.0004	0.0004	0.0003	0.0006	0.0133	0.0003	0.0003	0.0107	0.0097	2.406e-05	0	0	0	0	0	0	0	0	0.0133	0.877	0.02562	T	0.98	0.02423	T	0.08	0.24543	B	0.037	0.23121	B	0.695216	0.06170	N	1.131530	1	0.08975	N	0.78	0.19475	N	2.32	0.16640	T	-0.63	0.18459	N	0.113	0.10056	-0.9761	0.35882	T	0.032	0.13723	T	10	0.004365802	0.00089	T	.	.	.	0.020	0.03691	0.436	0.48828	0.0482279557977	0.04254	0.29044360715942863	0.28957	0.233401467163	0.25870	0.30178374052	0.10667	T	0.001695	0.01120	T	-0.744266	0.00019	T	-0.832468	0.01219	T	0.0141011422542854	0.00275	T	0.29547	0.05467	T	0.045248024	0.07375	0.036538996	0.03122	0.045248024	0.07375	0.036538996	0.03122	-4.439	0.30082	T	.	.	0.085	0.10111	B	.	.	-0.504768	0.01852	0.149	0.47017710772682203	0.03811	0.12141	0.17085	N	AEFBI	0.238681	0.36076	N	-1.16373739054788	0.05557	0.253662	-1.15935901115773	0.06601	0.3183026	2.54551009221283E-4	0.06190	0.693126	0.56070	0	0.588066	0.40923	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.63	1.65	0.23015	-0.339000	0.07878	-0.142000	0.11507	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3354:0.0:0.6646:0.0	8.405	0.31771	513	0.74941	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	872.98	35	chr12	14536627	.	G	T	872.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.37;DP=786;ExcessHet=0.0000;FS=3.246;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=-1.106e+00;SOR=1.023	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1239	20	0	1	0
chr12	14540894	14540894	T	C	exonic	PLBD1	.	nonsynonymous SNV	PLBD1:NM_024829:exon4:c.A428G:p.D143G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.772	P	0.511	P	0.000	D	0.997	D	2.56	M	2.3	T	-1.110	T	0.070	T	0.512	2.706	15.01	4.01	0.892	6.412	10.835	0.162	0.0204478802821	.	.	4.972e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs774824067	2.147e-05	2.257e-05	1.649e-05	2.652e-05	0.0004	1.539e-05	1.341e-05	0.0002	0.0002	0	0	0	0	0	0.0004	5.46e-06	0	0.0003	6.569e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.166	0.57480	T	0.419	0.14158	T	0.772	0.43974	P	0.511	0.47948	P	0.000003	0.62929	D	0.102221	0.997003	0.43563	D	3.205	0.89189	M	2.3	0.16953	T	-3.66	0.76094	D	0.602	0.62018	-1.1096	0.03104	T	0.070	0.28478	T	10	0.23243475	0.40239	T	0.020448	0.43047	T	0.162	0.41843	0.538	0.64874	0.263612267334	0.25957	0.6730135620177022	0.67239	0.697099281268	0.60879	0.435301721096	0.29935	T	0.018034	0.14606	T	-0.266442	0.12156	T	-0.322943	0.42250	T	0.539534753546301	0.34086	D	0.90251	0.65969	D	0.34066033	0.56332	0.31234854	0.57237	0.34066033	0.56332	0.31234854	0.57236	-4.277	0.27853	T	.	.	0.158	0.38693	B	.;.	.;.	4.820991	0.78525	26.9	0.99469772445860061	0.66259	0.96594	0.69924	D	AEFBI	0.833454	0.75166	D	0.279507638803154	0.55109	3.67541	0.242262975068134	0.52210	3.397413	0.761363761841419	0.23516	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.18	4.01	0.45821	6.732000	0.74596	6.127000	0.53864	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.455000	0.28006	0.0:0.0:0.1585:0.8415	10.835	0.45890	506	0.75555	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1185.98	34	chr12	14540894	.	T	C	1185.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.041e+00;DP=771;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=-7.320e-01;SOR=0.634	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1226	20	0	1	0
chr12	14696438	14696438	A	G	exonic	GUCY2C	.	nonsynonymous SNV	GUCY2C:NM_004963:exon1:c.T11C:p.L4S,	Diarrhea 6, Autosomal dominant;Meconium ileus, Autosomal recessive	.	5	1513	4	0	0	4	0.00132013	.	.	3056790	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.001	B	0.001	B	0.299	N	1.000	N	0	N	-1.39	T	-0.832	T	0.258	T	0.134	-1.493	0.017	-3.2	-0.441	-0.130	10.837	0.180	0.0469244086645	.	0.000199681	0.0001	0	0	0	0	0	0	0.0008	9.06e-05	14	154602	rs534813812	4.311e-05	4.309e-05	2.996e-05	5.64e-05	0.0005	3.444e-05	3.13e-05	0.0003	0.0003	2.988e-05	0	0	0	0	0	1.979e-05	1.657e-05	0.0005	2.628e-05	2.625e-05	1.286e-05	4.032e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.721	0.03914	T	0.781	0.04316	T	0.001	0.07471	B	0.001	0.04355	B	0.299248	0.03944	N	1.384010	1	0.08975	N	0.345	0.11182	N	-1.39	0.80387	T	-0.15	0.09297	N	0.174	0.18649	-0.8324	0.53146	T	0.258	0.62845	T	10	0.023318917	0.00606	T	0.046924	0.62685	D	0.180	0.45073	0.509	0.60540	0.499727662827	0.49609	0.385284473629612	0.38443	0.259871599414	0.28552	0.228473961353	0.01857	T	0.128441	0.45610	T	-0.448976	0.01145	T	-0.521905	0.20101	T	0.0176161910983487	0.00494	T	0.217778	0.02747	T	0.01945925	0.00477	0.05354279	0.09040	0.01945925	0.00477	0.05354279	0.09039	-4.653	0.32830	T	.	.	0.057	0.00604	B	.	.	0.509272	0.08783	5.558	0.46845386020612428	0.03784	0.00882	0.03481	N	AEFDBCI	0.041082	0.06198	N	-1.44503669649189	0.02256	0.09942403	-1.46085580922167	0.02673	0.1233898	0.411029863945571	0.20212	0.487112	0.14033	0	0.573888	0.26702	0	0.465395	0.07113	1	0.564101	0.26826	0	.	.	5.27	-3.2	0.04838	-0.084000	0.11233	1.607000	0.27615	-0.576000	0.04747	0.000000	0.06391	0.002000	0.18203	0.041000	0.14368	0.6853:0.0:0.3147:0.0	10.837	0.45901	709	0.56835	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	4854.98	38	chr12	14696438	.	A	G	4854.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.840e+00;DP=1158;ExcessHet=0.0000;FS=3.245;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.84;ReadPosRankSum=0.363;SOR=0.491	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1396	20	0	1	0
chr12	14806358	14806358	T	A	exonic	SMCO3	.	nonsynonymous SNV	SMCO3:NM_001013698:exon2:c.A323T:p.D108V,	.	.	429	1081	11	1	0	13	0.00597701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	0.028	U	1.000	D	0.345	N	2.51	T	-1.048	T	0.015	T	0.305	2.116	13.03	3.93	0.919	1.830	7.999	0.075	0.0148101114526	0.0023	0.00219649	0.0022	0.0009	0.0017	0	0.0002	0.0031	0.0056	0.0015	0.0023092	357	154602	rs139378466	0.0025	0.0025	0.0024	0.0025	0.0027	0.0024	0.0024	0.0026	0.0026	0.0005	0.0023	0.0062	0	0.0004	0.0026	0.0027	0.0029	0.0013	0.0020	0.0020	0.0021	0.0020	0.0031	0.0019	0.0018	0.0027	0.0026	0.0006	0	0.0028	0.0058	0	0	0.0068	0.0031	0.0024	0.0010	0.002	0.72154	D	0.008	0.67890	D	0.0	0.02946	B	0.001	0.04355	B	0.027676	0.25720	U	0.181927	1	0.81001	D	0.345	0.11182	N	2.51	0.14284	T	-4.64	0.79316	D	0.219	0.24510	-1.0485	0.14818	T	0.015	0.05849	T	10	0.0068520904	0.00156	T	0.01481	0.35167	T	0.075	0.21907	.	.	0.101711395817	0.09552	0.7404788375968961	0.73992	0.0336946848938	0.03538	0.576851665974	0.49642	T	0.01042	0.09410	T	-0.518793	0.00447	T	-0.521978	0.20094	T	0.0576532758263408	0.06794	T	0.710329	0.32115	T	0.45509708	0.64364	0.47957408	0.69857	0.45509708	0.64365	0.47957408	0.69857	-3.879	0.21988	T	.	.	0.133	0.28807	B	.	.	2.694520	0.35184	19.83	0.98479322266389002	0.41954	0.84461	0.43543	D	AEFBI	0.210189	0.33610	N	-0.324376812644855	0.28224	1.555038	-0.145530136779802	0.33581	1.922384	0.981547362596277	0.30277	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.11	3.93	0.44666	2.585000	0.45776	5.838000	0.50223	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.181:0.0:0.0:0.819	7.999	0.29447	720	0.55521	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3004.98	35	chr12	14806358	.	T	A	3004.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.324e+00;DP=935;ExcessHet=0.0000;FS=2.164;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=1.08;SOR=0.840	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1233	20	0	1	0
chr12	14921024	14921024	C	G	exonic	ERP27	.	nonsynonymous SNV	ERP27:NM_001300784:exon2:c.G55C:p.E19Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.072	B	0.069	B	0.910	N	1.000	N	0.345	N	1.51	T	-0.970	T	0.040	T	0.162	2.100	12.98	0.662	0.234	0.484	6.572	0.032	0.00804180504808	.	.	8.243e-06	0	0	0	0	1.5e-05	0	0	3.84e-05	1	26028	rs757588305	4.105e-06	4.104e-06	5.446e-06	2.75e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.18061	T	0.226	0.33000	T	0.072	0.23997	B	0.069	0.27757	B	0.910261	0.08557	N	0.960797	1	0.08975	N	2.085	0.57729	M	1.51	0.30937	T	-1.16	0.29727	N	0.223	0.25006	-0.9699	0.37220	T	0.040	0.17149	T	10	0.060632378	0.07479	T	0.008042	0.21316	T	0.032	0.07718	0.398	0.42590	0.391156786388	0.38726	0.36941352166306285	0.36855	0.0550186943767	0.06094	0.292922198772	0.09350	T	0.021515	0.16743	T	-0.248249	0.14313	T	-0.578883	0.14644	T	0.0552339509389173	0.06396	T	0.724828	0.33863	T	0.21790765	0.44285	0.07376174	0.16063	0.21790765	0.44285	0.07376174	0.16063	-4.93	0.36071	T	.	.	0.089	0.11989	B	.;.	.;.	2.382453	0.30587	18.48	0.93416377688427488	0.23182	0.18337	0.20219	N	AEFDGI	0.097001	0.19573	N	-0.854585097835784	0.11938	0.5789531	-0.813328160053019	0.14173	0.7391855	0.997390201558221	0.35572	0.554377	0.28877	0	0.601575	0.49859	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.71	0.662	0.17049	0.389000	0.20478	1.133000	0.24342	0.599000	0.40250	0.681000	0.28448	0.958000	0.29226	0.774000	0.36673	0.0:0.574:0.0:0.426	6.572	0.21741	639	0.64210	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1686.98	36	chr12	14921024	.	C	G	1686.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.270e-01;DP=912;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=-5.140e-01;SOR=0.644	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr12	15623230	15623230	A	C	exonic	EPS8	.	nonsynonymous SNV	EPS8:NM_004447:exon20:c.T2283G:p.D761E,	.	.	429	1062	30	1	0	32	0.0148423	.	.	490923	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.000	D	0.977	D	0.27	N	2.36	T	-0.977	T	0.012	T	0.239	0.748	7.966	1.88	0.445	0.214	6.504	0.155	.	0.0082	0.00439297	0.0074	0.0019	0.0047	0	0.0029	0.0098	0.0143	0.0082	0.0075161	1162	154602	rs7137185	0.0080	0.0080	0.0079	0.0081	0.0135	0.0079	0.0078	0.0111	0.0102	0.0010	0.0060	0.0260	5.041e-05	0.0022	0.0135	0.0084	0.0086	0.0077	0.0075	0.0075	0.0076	0.0073	0.0143	0.0071	0.0070	0.0128	0.0122	0.0012	0	0.0143	0.0297	0	0.0022	0.0204	0.0101	0.0113	0.0056	0.986	0.01983	T	0.515	0.10643	T	0.0	0.02946	B	0.002	0.06944	B	0.000017	0.62929	D	0.115379	0.977317	0.39355	D	0.325	0.10370	N	2.36	0.16089	T	0.15	0.09627	N	0.216	0.24260	-0.9773	0.35616	T	0.012	0.04558	T	10	0.0072618723	0.00165	T	.	.	.	0.155	0.40530	0.18	0.08751	0.308613300994	0.30479	0.2388080668406352	0.23794	0.111004502132	0.12528	0.558008611202	0.46987	T	0.111475	0.42699	T	-0.590975	0.00165	T	-0.611283	0.11880	T	0.00587593604112053	0.00064	T	0.525248	0.17252	T	0.04191001	0.06258	0.0510109	0.08121	0.047650933	0.08181	0.05434136	0.09329	-3.442	0.20401	T	0.08190025938125492	0.04275	0.083	0.12985	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	0.446653	0.08165	4.901	0.84873376288101132	0.15548	0.68783	0.33933	D	AEFBI	0.222442	0.34693	N	-0.645784753255822	0.17584	0.906024	-0.444027505788956	0.23718	1.29495	0.999717920804811	0.42101	0.706298	0.61202	0	0.588015	0.36545	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.66	1.88	0.24630	0.221000	0.17463	-0.241000	0.10591	-0.048000	0.17318	0.973000	0.34540	0.001000	0.17328	0.992000	0.67800	0.6364:0.2123:0.1513:0.0	6.504	0.21383	796	0.45353	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1280.98	36	chr12	15623230	.	A	C	1280.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.851;DP=897;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=1.67;SOR=0.641	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1348	20	0	1	0
chr12	15631664	15631664	T	G	exonic	EPS8	.	nonsynonymous SNV	EPS8:NM_004447:exon18:c.A1822C:p.K608Q,	.	.	440	1074	8	0	0	8	0.00371058	0.2354	0.612	491713	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	0.546	P	0.132	B	0.002	N	0.999	D	1.095	L	3.41	T	-1.053	T	0.021	T	0.692	3.743	19.01	5.75	2.191	5.774	14.628	0.143	.	0.0002	0.000399361	0.0004	0	0.0005	0	0.0002	0.0005	0.0025	0.0004	0.0002975	46	154602	rs200844984	0.0003	0.0003	0.0002	0.0003	0.0161	0.0002	0.0002	0.0134	0.0124	0.0001	0.0008	0.0004	0	0	0.0161	0.0001	0.0007	0.0006	0.0001	0.0001	0.0001	0.0002	0.0008	9.149e-05	7.704e-05	0.0003	0.0002	0	0	0.0004	0.0006	0	0	0.0068	0.0001	0	0.0008	0.023	0.48186	D	0.168	0.30631	T	0.546	0.38028	P	0.132	0.33005	B	0.002309	0.36806	N	0.272597	0.999308	0.46608	D	1.5	0.37844	L	3.41	0.06602	T	-1.03	0.27052	N	0.514	0.55106	-1.0529	0.13601	T	0.021	0.08732	T	10	0.038636625	0.02918	T	0.008819	0.23269	T	0.143	0.38195	.	.	0.657046649835	0.65417	0.47049646755063673	0.46968	0.508620062374	0.49010	0.79875421524	0.81773	T	0.206136	0.56538	T	-0.287347	0.09903	T	-0.285231	0.46265	T	0.0342426023323082	0.02679	T	0.861114	0.55479	D	0.18204689	0.39404	0.14578815	0.34563	0.18204689	0.39404	0.14578815	0.34563	-2.435	0.08101	T	.	.	0.453	0.62371	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.448689	0.48009	22.5	0.99211386752707564	0.55594	0.96996	0.72091	D	AEFBI	0.769287	0.70459	D	0.239995953207957	0.53146	3.484855	0.382959238317211	0.60514	4.239861	0.999999994599486	0.74766	0.50712	0.20391	0	0.588066	0.40923	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.75	5.75	0.90390	5.795000	0.68728	7.791000	0.68894	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	14.628	0.68238	798	0.45050	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	156.98	15	chr12	15631664	.	T	G	156.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=422;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0247;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.23;ReadPosRankSum=-1.058e+00;SOR=0.260	GT:AD:DP:GQ:PL	0/0:21,0:21:54:0,54,810	20	0	1	0
chr12	16357690	16357690	G	A	exonic	MGST1	.	nonsynonymous SNV	MGST1:NM_001260511:exon3:c.G212A:p.R71H	.	.	439	1081	2	0	0	2	0.000924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.42	M	-0.19	T	0.199	D	0.514	D	0.723	3.966	20.3	4.33	1.442	6.002	12.185	0.718	0.213412838809	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1485216528	6.848e-06	6.84e-06	8.177e-06	5.506e-06	4.492e-05	3.46e-06	2.53e-06	7.45e-06	2.79e-06	0	4.492e-05	0	0	0	0	4.5e-06	3.315e-05	1.165e-05	6.571e-06	6.567e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999996	0.81001	D	3.59	0.93643	H	-0.19	0.65931	T	-5.0	0.82341	D	0.919	0.92200	0.199	0.85891	D	0.514	0.81787	D	10	0.9757797	0.97339	D	0.213413	0.87405	D	0.718	0.90011	0.922	0.98638	0.793133036804	0.79121	0.891768041907351	0.89146	0.0784466274496	0.08825	0.699545264244	0.67078	T	0.493436	0.81699	T	0.0766248	0.61644	D	0.0513618	0.73673	D	0.997033596038818	0.90620	D	0.963204	0.95872	D	0.7536673	0.81081	0.5500831	0.73986	0.7536673	0.81083	0.5500831	0.73987	-13.451	0.91135	D	.	.	0.570	0.71043	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.332941	0.89494	30	0.9992832017603146	0.99222	0.95779	0.66118	D	AEFBI	0.942990	0.94824	D	0.659538568994957	0.76986	6.588838	0.572031041018222	0.72940	5.890102	0.999098441968697	0.38425	0.706548	0.73137	0	0.659464	0.62310	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.22	4.33	0.51083	6.164000	0.71716	11.786000	0.96242	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0783:0.0:0.9217:0.0	12.185	0.53545	808	0.43318	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	780.98	33	chr12	16357690	.	G	A	780.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.180;DP=771;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.01;ReadPosRankSum=1.72;SOR=0.703	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1065	20	0	1	0
chr12	16551226	16551226	C	T	exonic	LMO3	.	nonsynonymous SNV	LMO3:NM_001001395:exon4:c.G434A:p.R145H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.992	D	0.748	P	0.000	D	1.000	D	0.69	N	1.68	T	-0.942	T	0.117	T	0.603	3.793	19.26	5.28	2.429	7.167	18.900	0.243	0.039140301991	.	.	8.245e-06	0	0	0	0	0	0	6.061e-05	6.5e-06	1	154602	rs777979802	4.868e-06	1.026e-05	5.547e-06	4.184e-06	3.033e-05	2.02e-06	1.3e-06	7.3e-07	2e-07	3.033e-05	0	0	0	1.873e-05	0	2.751e-06	1.677e-05	1.166e-05	6.578e-06	6.568e-06	1.286e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.027	0.58613	D	0.848	0.46844	P	0.29	0.40682	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.245	0.31408	L	1.3	0.35590	T	-0.76	0.21215	N	0.382	0.51226	-0.9424	0.42234	T	0.117	0.41275	T	10	0.28789634	0.46371	T	0.03914	0.58635	D	0.243	0.54921	0.504	0.59770	0.498896430806	0.49526	0.43412315816201086	0.43329	2.43300071254	0.97277	0.76084625721	0.76054	T	0.09143	0.38793	T	-0.0890566	0.38231	T	-0.268846	0.47937	T	0.933633029460907	0.60053	D	0.969903	0.89229	D	0.2423076	0.47156	0.14305143	0.34011	0.2423076	0.47156	0.14305143	0.34010	-6.134	0.51274	T	.	.	0.229	0.49196	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	4.836108	0.78912	27.0	0.9982498186935822	0.90764	0.99692	0.98713	D	AEFI	0.969435	0.99183	D	0.470038105301828	0.65348	4.811279	0.551443510158475	0.71497	5.663936	0.999999992871398	0.74766	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.28	5.28	0.74118	7.245000	0.77681	5.986000	0.52250	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.900	0.92412	940	0.13648	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1136.98	33	chr12	16551226	.	C	T	1136.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=763;ExcessHet=0.0000;FS=0.812;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.38;ReadPosRankSum=0.564;SOR=0.818	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1138	20	0	1	0
chr12	18081418	18081418	G	A	exonic	RERGL	.	stopgain	RERGL:NM_001286201:exon5:c.C388T:p.R130X	.	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	4.646	25.5	-2.84	-0.275	0.213	10.209	.	.	0.0008	.	0.0011	0.0005	0	0.0001	0	0.0016	0.0022	0.0008	0.0011643	180	154602	rs73063263	0.0016	0.0016	0.0016	0.0015	0.0019	0.0015	0.0015	0.0018	0.0018	0.0004	6.708e-05	0	2.519e-05	0.0003	0.0003	0.0019	0.0008	0.0010	0.0009	0.0009	0.0010	0.0007	0.0016	0.0008	0.0007	0.0013	0.0012	0.0005	0	0	0	0	0.0002	0	0.0016	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.24	0.27077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228168	0.76548	D	0.551606	0.95683	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	6.521790	0.95345	34	0.98929694493280473	0.48713	0.67251	0.33365	D	AEFI	0.295076	0.40528	N	-0.00302644330928675	0.41719	2.500429	-0.280442050904326	0.28742	1.604954	2.68543704864855E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.74	-2.84	0.05408	0.234000	0.17708	0.805000	0.21696	-0.251000	0.07141	0.847000	0.30396	0.426000	0.24831	0.909000	0.44452	0.0729:0.0:0.3074:0.6197	10.209	0.42303	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2785.98	35	chr12	18081418	.	G	A	2785.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=987;ExcessHet=0.0000;FS=1.822;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.66;ReadPosRankSum=0.908;SOR=0.856	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,105,1575	20	0	1	0
chr12	19439895	19439906	GGCGGCGGAGGC	-	exonic	AEBP2	.	nonframeshift deletion	AEBP2:NM_001114176:exon1:c.196_207del:p.G70_G73del	.	.	304	1209	9	0	0	9	0.00370828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0086	0.00119808	0.0163	0	0.02	0	0	0.0087	0.0208	0.0211	0.0002305	6	26028	rs558021601	0.0012	0.0012	0.0009	0.0016	0.0126	0.0012	0.0011	0.0119	0.0116	3.697e-05	0.0005	0.0057	0	0	0.0077	0.0004	0.0017	0.0126	0.0008	0.0008	0.0006	0.0011	0.0098	0.0007	0.0006	0.0076	0.0068	0.0001	0	0.0009	0.0066	0	0	0	0.0005	0.0005	0.0098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1620.07	36	chr12	19439894	.	GGGCGGCGGAGGC	G	1620.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.192;DP=623;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=23.82;ReadPosRankSum=2.32;SOR=0.671	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	19	0	2	0
chr12	20369580	20369580	A	C	exonic	PDE3A	.	nonsynonymous SNV	PDE3A:NM_000921:exon1:c.A296C:p.E99A	Hypertension and brachydactyly syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	702269	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.63	T	0.0	B	0.0	B	0.504	N	0.998	N	-0.55	N	-0.08	T	-1.024	T	0.081	T	0.206	-0.810	0.650	-2.76	-0.004	0.470	8.556	0.074	0.106067165317	0.0029	0.00319489	0.0023	0.0060	0.0015	0.0022	0.0054	0.0038	0	0	0.0015653	242	154602	rs201132768	0.0035	0.0035	0.0036	0.0034	0.0071	0.0034	0.0034	0.0064	0.0061	0.0071	0.0027	0.0039	0.0002	0.0022	0.0009	0.0038	0.0034	0.0004	0.0046	0.0046	0.0048	0.0044	0.0078	0.0043	0.0042	0.0071	0.0068	0.0078	0	0.0044	0.0037	0.0002	0.0030	0.0034	0.0036	0.0057	0.0010	0.513	0.07425	T	0.2	0.27591	T	0.0	0.02946	B	0.0	0.01387	B	0.503612	0.05107	N	1.329880	0.998348	0.22212	N	0.205	0.09354	N	-0.08	0.63911	T	-0.6	0.17834	N	0.213	0.23758	-1.0240	0.22410	T	0.081	0.31884	T	10	0.006219268	0.00140	T	0.106067	0.78149	D	0.074	0.21613	.	.	0.376570364461	0.37271	0.38407859922579796	0.38322	0.913928028628	0.71167	0.70104598999	0.67295	T	0.097943	0.40127	T	-0.513278	0.00481	T	-0.50578	0.21750	T	0.000436209368915096	0.00003	T	0.437256	0.12012	T	0.037471022	0.04808	0.03877445	0.03821	0.037471022	0.04808	0.03877445	0.03820	-2.513	0.05870	T	.	.	0.065	0.01909	B	.	.	1.416312	0.18325	13.67	0.56566837656234181	0.05580	0.29893	0.23941	N	ALL	0.058204	0.10904	N	-1.10709861337959	0.06516	0.3001593	-0.981693475939164	0.10196	0.5120245	0.999999986813248	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.503968	0.08637	0	0.249971	0.05119	0	.	.	4.3	-2.76	0.05547	0.140000	0.15877	-0.254000	0.10482	0.750000	0.87069	0.536000	0.27236	0.019000	0.20708	0.989000	0.64315	0.4411:0.4726:0.0863:0.0	8.556	0.32644	972	0.05671	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1045.98	41	chr12	20369580	.	A	C	1045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.740e-01;DP=852;ExcessHet=0.0000;FS=0.912;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=1.30;SOR=0.525	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,970	20	0	1	0
chr12	20898457	20898457	A	C	exonic	SLCO1B3;SLCO1B3-SLCO1B7	.	nonsynonymous SNV	SLCO1B3:NM_001349920:exon12:c.A1620C:p.K540N	.	.	157	1363	1	1	0	3	0.0010993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.51	H	0.4	T	-0.463	T	0.368	T	0.605	1.836	12.10	1.3	0.152	1.797	5.198	0.514	0.0474487694611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.382e-06	1.368e-06	1.377e-06	1.387e-06	1.171e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.081e-07	0	1.171e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.999	0.77913	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.718923	0.81001	N	3.97	0.96570	H	0.4	0.57261	T	-4.65	0.79482	D	0.844	0.85238	-0.4629	0.69971	T	0.368	0.72834	T	10	0.9073566	0.90100	D	0.047449	0.62924	D	0.514	0.79217	0.816	0.93060	0.69386598177	0.69122	0.6905444331653552	0.68994	0.0336777075547	0.03534	0.64228951931	0.58889	T	0.55794	0.85151	D	0.0440602	0.57576	T	-0.174487	0.57031	T	0.998690187931061	0.94887	D	0.926707	0.88196	D	0.9306576	0.94303	0.8559582	0.91904	0.9306576	0.94303	0.8559582	0.91905	-9.349	0.69915	D	0.8096833774966365	0.88489	0.977	0.91639	P	.;.;.;.	.;.;.;.	3.360882	0.46396	22.3	0.99812210446243466	0.89620	0.74860	0.36632	D	AEFI	0.516106	0.54278	D	0.329862364295253	0.57687	3.937045	0.122124374230197	0.45684	2.82712	1.10150989297692E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.7	1.3	0.20778	1.583000	0.36188	0.281000	0.16766	0.665000	0.62972	1.000000	0.71638	0.365000	0.24540	0.833000	0.39279	0.7478:0.0:0.2522:0.0	5.198	0.14573	864	0.32732	Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	820.98	34	chr12	20898457	.	A	C	820.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.252e+00;DP=772;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.83;ReadPosRankSum=1.36;SOR=0.648	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1053	20	0	1	0
chr12	21022930	21022930	A	G	exonic	SLCO1B7	.	nonsynonymous SNV	SLCO1B7:NM_001009562:exon4:c.A421G:p.I141V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.024	B	0.071	B	0.000	N	0.920	N	1.49	L	1.04	T	-1.012	T	0.082	T	0.108	-1.047	0.199	-0.263	-0.184	0.852	7.043	0.060	0.00497912937018	0.0012	0.000998403	0.0003	0.0039	0	0	0.0002	0	0	0	0.0003234	50	154602	rs201102329	9.856e-05	9.85e-05	0.0001	7.154e-05	0.0037	8.515e-05	7.985e-05	0.0031	0.0029	0.0037	0.0001	0	0	5.617e-05	0	0	0.0002	0	0.0010	0.0010	0.0010	0.0009	0.0035	0.0009	0.0008	0.0030	0.0028	0.0035	0	0.0003	0	0	9.414e-05	0	0	0.0005	0	0.174	0.22486	T	0.24	0.24987	T	0.024	0.19075	B	0.071	0.27960	B	0.000016	0.62929	N	0.146956	0.920054	0.27314	N	1.46	0.36832	L	1.04	0.40218	T	-0.76	0.21215	N	0.14	0.15609	-1.0124	0.26165	T	0.082	0.32382	T	10	0.0060474575	0.00136	T	0.004979	0.12566	T	0.060	0.17295	.	.	0.0401082797425	0.02173	0.28636698159828994	0.28549	0.0072715469592	0.00638	.	.	.	0.003493	0.02899	T	-0.6193	0.00111	T	-0.662366	0.08106	T	0.0139273310913134	0.00266	T	0.751525	0.37862	T	0.05104451	0.09314	0.06302477	0.12424	0.05104451	0.09314	0.06302477	0.12423	-4.564	0.31716	T	.	.	0.074	0.04889	B	.;.	.;.	0.404875	0.07760	4.444	0.66777269088643032	0.08158	0.06244	0.12234	N	AEFI	0.066567	0.13042	N	-1.21968607934768	0.04715	0.2133924	-1.29595172846375	0.04485	0.21167	1.16890039245698E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.54	-0.263	0.12314	0.113000	0.15333	2.073000	0.30453	-2.202000	0.00355	0.002000	0.15269	0.240000	0.23845	0.026000	0.12556	0.7843:0.0:0.2157:0.0	7.043	0.24210	929	0.16858	.;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1760.98	84	chr12	21022930	.	A	G	1760.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.720e-01;DP=1367;ExcessHet=0.0000;FS=3.317;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.98;MQRankSum=-1.097e+00;QD=9.42;ReadPosRankSum=2.27;SOR=0.931	GT:AD:DP:GQ:PL	0/0:65,0:65:99:0,120,1800	20	0	1	0
chr12	21076479	21076479	G	A	exonic	SLCO1B3-SLCO1B7;SLCO1B7	.	nonsynonymous SNV	SLCO1B7:NM_001009562:exon12:c.G1634A:p.G545E	.	.	32	1481	9	0	0	9	0.00302928	.	.	702273	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.775	H	-1.45	T	0.256	D	0.549	D	0.757	2.315	13.70	2.4	1.322	6.645	9.944	0.789	.	0.0052	0.00698882	0.0077	0.0018	0.0410	0	0.0018	0.0060	0.0077	0.0015	0.0077554	1199	154602	rs188817665	0.0064	0.0066	0.0066	0.0062	0.0310	0.0063	0.0063	0.0295	0.0289	0.0014	0.0310	0.0078	0	0.0019	0.0019	0.0065	0.0060	0.0020	0.0064	0.0064	0.0060	0.0068	0.0258	0.0061	0.0059	0.0237	0.0228	0.0023	0.0143	0.0258	0.0078	0	0.0009	0	0.0060	0.0076	0.0021	0.03	0.91255	D	0.009	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.869619	0.45735	D	3.85	0.95769	H	-2.14	0.86415	D	-0.64	0.94899	N	0.704	0.96871	0.256	0.86846	D	0.549	0.83446	D	10	0.009755582	0.00219	T	.	.	.	0.789	0.93028	.	.	0.604448947905	0.60128	0.9051016532319668	0.90483	0.0452562153053	0.04904	.	.	.	0.163783	0.50898	T	-0.0603123	0.42858	T	0.164274	0.81067	D	0.0827487367248945	0.10336	T	0.974702	0.91007	D	0.91133803	0.92419	0.8700772	0.92871	0.91133803	0.92420	0.8700772	0.92872	-10.744	0.78235	D	.	.	0.926	0.84672	P	.;.;.	.;.;.	2.190415	0.27925	17.63	0.99591604138847056	0.73631	0.91538	0.53740	D	AEFI	0.790312	0.71924	D	0.546453515641824	0.69868	5.418328	0.331642158265549	0.57408	3.906416	0.00122605915382854	0.08353	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.4	2.4	0.28568	7.360000	0.78747	11.698000	0.94457	0.481000	0.22134	1.000000	0.71638	1.000000	0.68203	0.256000	0.23417	0.0:0.0:1.0:0.0	9.944	0.40767	923	0.18507	.;.;Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1719.11	37	chr12	21076479	.	G	A	1719.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.382;DP=892;ExcessHet=0.1072;FS=0.506;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=7.85;ReadPosRankSum=-1.059e+00;SOR=0.758	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1289	19	0	2	0
chr12	21318899	21318899	C	T	exonic	SLCO1A2	.	nonsynonymous SNV	SLCO1A2:NM_021094:exon2:c.G85A:p.A29T	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	1.0	D	0.999	D	0.000	D	1.000	D	2.41	M	1.0	T	-0.390	T	0.370	T	0.605	4.456	23.8	5.68	2.683	3.474	12.736	0.243	0.0281012920725	.	0.000199681	8.386e-06	0.0001	0	0	0	0	0	0	1.29e-05	2	154602	rs201481055	3.471e-06	5.472e-06	2.76e-06	4.19e-06	2.714e-06	1.02e-06	7.4e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.714e-06	3.357e-05	0	6.568e-06	6.563e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.013	0.91255	D	0.027	0.92824	D	0.774	0.44062	P	0.627	0.51631	P	0.000073	0.52346	D	0.169065	0.97507	0.81001	D	2.57	0.75187	M	0.18	0.60361	T	-1.94	0.45042	N	0.603	0.62103	-0.3902	0.72336	T	0.370	0.72970	T	10	0.3429328	0.51315	T	0.028101	0.50823	D	0.243	0.54921	.	.	0.645334628493	0.64240	0.40153284833769703	0.40069	0.269669760941	0.29493	0.542712688446	0.44829	T	0.077941	0.35773	T	0.0479483	0.58079	T	-0.168902	0.57544	T	0.977206587791443	0.71734	D	0.769523	0.40183	T	0.31261924	0.54011	0.29996106	0.56029	0.31261924	0.54011	0.29996106	0.56028	-6.277	0.48540	T	.	.	0.189	0.48146	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.463512	0.69484	25.4	0.99900826329957404	0.97275	0.91181	0.53019	D	AEFBI	0.466587	0.51417	N	0.667050026879861	0.77474	6.682026	0.664494812339203	0.79694	7.136863	0.0160009544596286	0.12779	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.68	5.68	0.88021	2.924000	0.48572	4.829000	0.45183	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9243:0.0:0.0757	12.736	0.56595	900	0.24599	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain;.;Major facilitator superfamily domain;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1147.98	36	chr12	21318899	.	C	T	1147.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.311e+00;DP=768;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.00;ReadPosRankSum=0.089;SOR=0.662	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1110	20	0	1	0
chr12	21537061	21537061	C	T	exonic	GYS2	.	nonsynonymous SNV	GYS2:NM_021957:exon16:c.G2005A:p.D669N,	Glycogen storage disease 0, liver, Autosomal recessive	.	1	1495	24	2	0	28	0.00927767	.	.	211598	Glycogen_storage_disorder_due_to_hepatic_glycogen_synthase_deficiency|not_specified|not_provided	MONDO:MONDO:0009414,MedGen:C1855861,OMIM:240600,Orphanet:2089|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.39	T	0.001	B	0.002	B	0.003	N	1.000	D	0	N	-0.19	T	-1.092	T	0.094	T	0.061	1.654	11.49	0.943	-0.010	0.001	8.988	0.050	.	0.0015	0.00199681	0.0037	0.0003	0.0026	0	0	0.0030	0.0055	0.0128	0.0032665	505	154602	rs142656537	0.0022	0.0022	0.0017	0.0027	0.0144	0.0021	0.0021	0.0138	0.0135	0.0002	0.0017	0.0268	2.519e-05	5.616e-05	0.0050	0.0008	0.0032	0.0144	0.0018	0.0018	0.0014	0.0022	0.0114	0.0016	0.0015	0.0090	0.0081	0.0002	0	0.0016	0.0271	0	9.436e-05	0	0.0012	0.0024	0.0114	0.297	0.14645	T	0.224	0.25591	T	0.001	0.07471	B	0.002	0.06944	B	0.002709	0.36068	N	0.297881	0.985722	0.40325	D	0.425	0.12573	N	-0.19	0.65931	T	-1.5	0.36586	N	0.134	0.13055	-1.0920	0.05207	T	0.094	0.35524	T	10	0.005063325	0.00109	T	.	.	.	0.050	0.13987	.	.	0.449088463789	0.44533	0.31098072267249066	0.31011	0.115968932059	0.13078	0.302496671677	0.10774	T	0.293702	0.66640	T	-0.582032	0.00187	T	-0.597149	0.13052	T	0.0111084068973165	0.00162	T	0.922208	0.71716	D	0.04919059	0.08696	0.04708933	0.06708	0.045363978	0.07411	0.056559913	0.10126	-5.237	0.39315	T	.	.	0.093	0.13923	B	.	.	0.521958	0.08906	5.688	0.97992049956812322	0.37408	0.15788	0.19082	N	AEFBI	0.298864	0.40807	N	-0.971278121881305	0.09220	0.435512	-0.921888275720626	0.11578	0.5907001	9.66969042619924E-4	0.08067	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	4.93	0.943	0.18655	-0.086000	0.11198	-0.783000	0.07446	0.568000	0.28809	0.001000	0.13787	0.000000	0.08366	0.912000	0.44740	0.0:0.6862:0.0:0.3138	8.988	0.35164	865	0.32612	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1137.98	38	chr12	21537061	.	C	T	1137.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.500e-02;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.40;ReadPosRankSum=0.574;SOR=0.710	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1114	20	0	1	0
chr12	21638366	21638366	T	C	exonic	LDHB	.	nonsynonymous SNV	LDHB:NM_001174097:exon6:c.A700G:p.M234V	.	.	153	1368	1	0	0	1	0.000365364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.0	B	0.002	B	0.011	N	0.990	D	1.785	L	-0.2	T	-0.910	T	0.169	T	0.271	1.918	12.37	0.856	0.249	0.337	5.809	0.071	0.015635208065	.	.	8.246e-06	0	0	0	0	0	0	6.061e-05	6.5e-06	1	154602	rs754069527	4.184e-06	6.842e-06	1.391e-06	6.991e-06	0.0002	1.51e-06	9.9e-07	9.31e-06	4.58e-06	0	0	0	0	0	0.0002	9.2e-07	1.682e-05	3.504e-05	6.589e-06	6.57e-06	1.288e-05	0	1.475e-05	0	0	.	.	0	0	0	0	0	0	0	1.475e-05	0	0	0.011	0.55530	D	0.067	0.44302	T	0.0	0.02946	B	0.002	0.06944	B	0.011454	0.29527	N	0.429354	0.990081	0.41084	D	1.275	0.32135	L	-0.2	0.66113	T	-1.62	0.38924	N	0.337	0.37820	-0.9102	0.46830	T	0.169	0.50939	T	10	0.30118746	0.47662	T	0.015635	0.36485	T	0.071	0.20720	0.472	0.54699	0.779214687457	0.77717	0.5991420976034186	0.59845	0.294151297255	0.31833	0.47282359004	0.35068	T	0.446393	0.78906	T	-0.153892	0.27706	T	-0.358201	0.38261	T	0.116274476051331	0.14061	T	0.549745	0.18930	T	0.41087112	0.61477	0.37464172	0.62625	0.41087112	0.61478	0.37464172	0.62625	-6.646	0.51403	T	.	.	0.156	0.34602	B	.;.	.;.	2.094711	0.26650	17.19	0.95419369161727374	0.26896	0.77826	0.38312	D	AEFBHCI	0.486444	0.52561	N	-0.312749958077849	0.28662	1.582858	-0.220905947502345	0.30787	1.736526	0.999430192498079	0.39683	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.11	0.856	0.18156	0.337000	0.19582	1.547000	0.27267	0.639000	0.52094	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.201:0.0:0.2691:0.53	5.809	0.17720	735	0.53711	Lactate/malate dehydrogenase, C-terminal;Lactate/malate dehydrogenase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1244.98	57	chr12	21638366	.	T	C	1244.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.240e-01;DP=1227;ExcessHet=0.0000;FS=9.347;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.09;ReadPosRankSum=0.178;SOR=1.057	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,116,1712	20	0	1	0
chr12	21765733	21765733	G	A	exonic	KCNJ8	.	nonsynonymous SNV	KCNJ8:NM_004982:exon3:c.C1265T:p.S422L,	.	.	0	1515	7	0	0	7	0.00230491	.	.	167406	Cardiovascular_phenotype|Brugada_syndrome|KCNJ8-related_disorder|not_provided|Hypertrophic_cardiomyopathy	MedGen:CN230736|MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|.|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.42	T	0.013	B	0.004	B	0.243	N	1.000	N	0	N	-1.12	T	-0.952	T	0.199	T	0.254	0.811	8.258	4.45	1.487	2.410	9.499	0.187	0.0194152558076	0.0015	0.000199681	0.0016	9.615e-05	0.0010	0.0001	0	0.0025	0.0033	0.0010	0.0014618	226	154602	rs72554071	0.0011	0.0011	0.0010	0.0011	0.0045	0.0010	0.0010	0.0032	0.0027	0.0002	0.0007	0.0310	0	7.488e-05	0.0045	0.0004	0.0028	0.0009	0.0012	0.0012	0.0013	0.0011	0.0006	0.0011	0.0010	0.0005	0.0004	0.0001	0.0011	0.0005	0.0328	0	9.432e-05	0.0034	0.0006	0.0028	0.0006	0.21	0.19639	T	0.247	0.23914	T	0.013	0.16609	B	0.004	0.10090	B	0.243235	0.15666	N	0.650929	1	0.08975	N	0.345	0.11182	N	-1.12	0.77593	T	-0.62	0.18248	N	0.104	0.08786	-0.9524	0.40555	T	0.199	0.55499	T	10	0.0040097833	0.00077	T	0.019415	0.41777	T	0.187	0.46274	.	.	0.425148423609	0.42132	0.6132004647008038	0.61252	0.932174325602	0.71871	0.362425088882	0.19739	T	0.264	0.63551	T	-0.364457	0.03884	T	-0.356891	0.38413	T	0.0120851045618877	0.00192	T	0.684232	0.29249	T	0.068914935	0.15055	0.08378752	0.19227	0.07222775	0.16049	0.07127815	0.15244	-3.866	0.21794	T	.	.	.	.	.	.	.	2.304429	0.29492	18.14	0.93033629694933062	0.22635	0.44658	0.27366	N	AEFBI	0.602448	0.59431	D	-0.670389501032449	0.16868	0.8632347	-0.556396499684281	0.20637	1.112709	0.00978492626089505	0.11913	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.34	4.45	0.53365	2.485000	0.44909	5.319000	0.48286	0.654000	0.53741	0.077000	0.22263	0.978000	0.30204	0.917000	0.45243	0.1593:0.0:0.8407:0.0	9.499	0.38171	746	0.52331	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	2932.98	34	chr12	21765733	.	G	A	2932.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.86;DP=934;ExcessHet=0.0000;FS=2.420;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=0.428;SOR=0.543	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1261	20	0	1	0
chr12	21766064	21766064	A	T	exonic	KCNJ8	.	nonsynonymous SNV	KCNJ8:NM_004982:exon3:c.T934A:p.S312T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.993	D	0.000	D	1.000	D	3.83	H	-4.01	D	1.102	D	0.957	D	0.87	4.486	24.0	5.35	2.244	9.123	15.505	0.956	0.713043984367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.59	0.93643	H	-4.01	0.96370	D	-2.8	0.59226	D	0.84	0.83576	1.102	0.99732	D	0.957	0.98606	D	10	0.9934076	0.99870	D	0.713044	0.97668	D	0.956	0.99253	0.946	0.99325	0.949365678283	0.94883	0.9277983974537026	0.92757	2.08941836619	0.94716	0.801183104515	0.82142	T	0.952471	0.99325	D	0.524894	0.95030	D	0.516197	0.94957	D	0.996925294399261	0.90376	D	0.998684	0.99283	D	0.91429996	0.92699	0.8775511	0.93391	0.91429996	0.92700	0.8775511	0.93391	-9.904	0.73334	D	0.7793477278348038	0.85944	.	.	.	.	.	4.648534	0.74080	26.1	0.99585033854922789	0.73277	0.98849	0.87668	D	AEFGBI	0.978584	0.99774	D	0.999667008822011	0.95734	13.91085	0.913944439940961	0.96151	14.36079	0.999997216090658	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.542086	0.14980	0	.	.	5.35	5.35	0.76297	9.309000	0.95312	11.251000	0.90746	0.731000	0.85647	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.505	0.75461	746	0.52331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	19403.08	34	chr12	21766064	.	A	T	19403.08	.	AC=2;AF=0.048;AN=42;DP=1323;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.07;SOR=0.801	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1261	20	1	0	0
chr12	21805301	21805301	G	C	exonic	ABCC9	.	nonsynonymous SNV	ABCC9:NM_005691:exon40:c.C4523G:p.S1508C,	Atrial fibrillation, familial, 12, Autosomal dominant;Cardiomyopathy, dilated, 1O;Hypertrichotic osteochondrodysplasia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.78	P	0.541	P	.	.	1.000	D	2.91	M	-1.63	D	0.499	D	0.642	D	0.726	4.371	23.1	5.06	1.517	9.233	15.023	0.746	0.107305408838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0035	0.0004	0.0004	0.0005	0.0004	0.0004	0.0005	0.0004	0.0004	0	0.0001	5.056e-05	0	0	0.0005	0.0003	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.037	0.51737	D	0.78	0.44271	P	0.541	0.48869	P	.	.	.	.	0.942115	0.81001	D	3.565	0.93411	H	-1.63	0.82440	D	-2.82	0.59545	D	0.861	0.85766	0.499	0.90534	D	0.642	0.87509	D	9	0.86013865	0.85229	D	0.107305	0.78332	D	0.746	0.91242	0.654	0.79172	0.938725009223	0.93809	.	.	.	.	.	.	.	0.837545	0.96181	D	0.236237	0.77305	D	0.101562	0.77011	D	0.965997040271759	0.67442	D	0.819018	0.47665	T	0.19674279	0.41513	0.22112092	0.46911	0.19674279	0.41513	0.22112092	0.46911	-8.375	0.63599	D	0.10600428853165336	0.08469	0.131	0.28319	B	.;.	.;.	3.249126	0.44386	21.9	0.99414692704072116	0.63453	0.99285	0.93953	D	AEFI	0.920507	0.89258	D	0.684879813253823	0.78641	6.912787	0.691786436055985	0.81756	7.601414	0.91949839964056	0.26603	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.95	5.06	0.67838	9.363000	0.96541	10.001000	0.83042	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.8578:0.1422	15.023	0.71308	709	0.56835	ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1818	287.35	50	chr12	21805301	.	G	C	287.35	.	AC=4;AF=0.182;AN=22;BaseQRankSum=-9.290e-01;DP=837;ExcessHet=0.6776;FS=112.828;InbreedingCoeff=-0.2768;MLEAC=6;MLEAF=0.273;MQ=60.00;MQRankSum=0.00;QD=1.56;ReadPosRankSum=1.14;SOR=9.000	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,7:32:20:0|1:21805301_G_C:20,0,644:21805301	7	0	4	10
chr12	24832806	24832806	C	T	exonic	BCAT1	.	nonsynonymous SNV	BCAT1:NM_001178092:exon7:c.G778A:p.E260K	.	.	411	1108	3	0	0	3	0.00135196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.83	T	0.003	B	0.02	B	0.001	D	1.000	D	0.39	N	2.31	T	-1.041	T	0.014	T	0.258	-0.520	1.628	3.15	1.247	0.350	6.478	0.028	.	0.0029	0.00219649	0.0042	0.0009	0.0004	0	0.0110	0.0056	0	0.0026	0.0034734	537	154602	rs7313020	0.0044	0.0044	0.0045	0.0044	0.0049	0.0043	0.0043	0.0048	0.0048	0.0007	0.0011	3.833e-05	2.522e-05	0.0085	0.0014	0.0049	0.0036	0.0027	0.0034	0.0034	0.0029	0.0039	0.0048	0.0032	0.0031	0.0044	0.0042	0.0006	0	0.0026	0	0	0.0101	0	0.0048	0.0033	0.0023	0.645	0.05341	T	0.962	0.02568	T	0.001	0.07471	B	0.005	0.11217	B	0.000615	0.42945	D	0.230682	0.999556	0.47961	D	0.465	0.13073	N	2.31	0.16794	T	-1.57	0.37955	N	0.263	0.35620	-1.0406	0.17132	T	0.014	0.05657	T	10	0.004278332	0.00086	T	.	.	.	0.028	0.06331	.	.	0.171388866994	0.16791	0.6231879212163525	0.62251	0.0237529102387	0.02408	0.331109821796	0.15102	T	0.277516	0.65014	T	-0.568912	0.00225	T	-0.58806	0.13835	T	0.00426816454501589	0.00046	T	0.878412	0.59357	D	0.101902716	0.24075	0.09000528	0.21082	0.101902716	0.24075	0.09000528	0.21082	-2.746	0.13789	T	.	.	0.065	0.02370	B	.;.;.;.;.	.;.;.;.;.	1.246331	0.16423	12.53	0.54782989687718531	0.05207	0.44922	0.27425	N	AEFBI	0.220811	0.34551	N	-0.959778777192792	0.09474	0.4485554	-0.851998066570905	0.13240	0.6857265	0.0192426879413263	0.13143	0.744818	0.98587	0	0.732433	0.95613	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.0	3.15	0.35301	0.220000	0.17445	1.031000	0.23480	-0.198000	0.09030	0.053000	0.21524	0.241000	0.23851	0.169000	0.20946	0.0:0.642:0.1384:0.2196	6.478	0.21244	966	0.07191	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1022.98	33	chr12	24832806	.	C	T	1022.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.091;DP=830;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.93;ReadPosRankSum=0.914;SOR=0.737	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr12	26122639	26122650	GCCGCCGCCGCT	-	exonic	BHLHE41	.	nonframeshift deletion	BHLHE41:NM_030762:exon5:c.865_876del:p.S289_G292del,	.	.	342	1177	3	0	0	3	0.0012728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0103	.	0.0232	0.0329	0.0348	0	0.0025	0.0483	0	0.0068	0.0016905	44	26028	rs753880774	0.0057	0.0048	0.0056	0.0057	0.0064	0.0055	0.0055	0.0062	0.0062	0.0010	0.0025	0.0008	0	0.0012	0.0017	0.0064	0.0045	0.0036	0.0030	0.0030	0.0033	0.0027	0.0050	0.0028	0.0027	0.0045	0.0043	0.0011	0	0.0030	0.0020	0.0002	0.0004	0	0.0050	0.0024	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	349.29	16	chr12	26122638	.	GGCCGCCGCCGCT	G	349.29	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.660;DP=562;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=24.95;ReadPosRankSum=0.230;SOR=1.002	GT:AD:DP:GQ:PL	0/0:42,0:42:96:0,96,1244	19	0	1	1
chr12	26602630	26602630	C	T	exonic	ITPR2	.	nonsynonymous SNV	ITPR2:NM_002223:exon27:c.G3539A:p.R1180Q,	.	.	443	1063	16	0	0	16	0.00746965	.	.	725055	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.62	T	0.001	B	0.001	B	0.064	N	1.000	D	0.935	L	-2.41	D	-0.577	T	0.353	T	0.226	1.344	10.41	3.94	2.677	2.048	7.909	0.218	.	0.0057	0.00279553	0.0044	0.0013	0.0025	0	0.0005	0.0062	0.0056	0.0039	0.0044566	689	154602	rs35862420	0.0060	0.0061	0.0059	0.0062	0.0073	0.0059	0.0059	0.0069	0.0068	0.0012	0.0041	0.0030	0.0001	0.0003	0.0073	0.0070	0.0047	0.0043	0.0054	0.0054	0.0060	0.0048	0.0079	0.0051	0.0050	0.0074	0.0072	0.0013	0.0899	0.0062	0.0043	0.0002	0.0002	0.0272	0.0079	0.0057	0.0033	0.551	0.06564	T	0.583	0.08419	T	0.001	0.07471	B	0.001	0.04355	B	0.063747	0.22002	N	0.498399	0.609463	0.32608	D	0.345	0.11182	N	-2.41	0.88533	D	-1.58	0.38151	N	0.176	0.18920	-0.5768	0.65744	T	0.353	0.71650	T	10	0.006019622	0.00135	T	.	.	.	0.218	0.51265	.	.	0.685097662135	0.68241	0.07574022133302347	0.07510	0.253854614516	0.27951	0.264534235001	0.05443	T	0.350104	0.71787	T	-0.371356	0.03526	T	-0.301077	0.44612	T	0.0133498682260292	0.00241	T	0.947805	0.79866	D	0.07195346	0.15970	0.04891079	0.07364	0.07195346	0.15969	0.04891079	0.07364	-3.458	0.15849	T	.	.	0.067	0.02342	B	.	.	3.898775	0.56773	23.8	0.93916534581051647	0.23955	0.75825	0.37146	D	AEFBI	0.147439	0.27111	N	-0.246391743540757	0.31247	1.750234	-0.0704487662434825	0.36618	2.133331	0.456182915423413	0.20584	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.83	3.94	0.44807	1.717000	0.37612	2.096000	0.30576	0.580000	0.29708	0.982000	0.35529	0.219000	0.23700	0.951000	0.49849	0.0:0.8315:0.0:0.1685	7.909	0.28941	855	0.34697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	196.98	39	chr12	26602630	.	C	T	196.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.050e-01;DP=764;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.92;ReadPosRankSum=1.58;SOR=0.569	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1082	20	0	1	0
chr12	27501927	27501927	C	T	exonic	SMCO2	.	nonsynonymous SNV	SMCO2:NM_001145010:exon9:c.C838T:p.R280C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.003	B	0.002	B	0.927	N	1.000	N	0.145	N	.	.	-1.042	T	0.050	T	0.224	0.098	4.530	-2.94	-1.139	-0.423	6.326	0.014	0.00112154346176	.	.	6.581e-05	0	0	0	0.0006	0	0	0	6.5e-06	1	154602	rs775991038	1.736e-05	1.711e-05	1.426e-05	2.055e-05	3.311e-05	1.174e-05	9.87e-06	6.77e-06	5.22e-06	3.311e-05	0	0	0	0.0002	0	1.213e-05	1.75e-05	0	1.326e-05	1.317e-05	0	2.712e-05	0.0002	2.2e-06	8.3e-07	.	.	0	0	0	0	0	9.448e-05	0	0	0	0.0002	0.114	0.28646	T	0.135	0.34124	T	0.003	0.11197	B	0.002	0.06944	B	0.926540	0.08451	N	0.961861	1	0.08975	N	0.06	0.08197	N	.	.	.	-1.92	0.44657	N	0.289	0.32701	-1.0415	0.16860	T	0.050	0.21339	T	9	0.025651783	0.00753	T	0.001122	0.01360	T	0.014	0.01968	0.37	0.38013	0.0920862733494	0.08535	0.10763305580383965	0.10692	.	.	0.309601843357	0.11847	T	0.076937	0.35537	T	-0.218998	0.18129	T	-0.552352	0.17101	T	0.0310042990936696	0.02147	T	0.627737	0.24333	T	0.058641892	0.11821	0.054705102	0.09458	0.058641892	0.11821	0.054705102	0.09457	-4.966	0.36469	T	.	.	0.131	0.28203	B	.;.;.	.;.;.	0.637873	0.10061	6.813	0.85176342405939864	0.15731	0.00868	0.03443	N	AEFGBI	0.034825	0.04382	N	-1.62248415304144	0.01156	0.05025145	-1.62657846934916	0.01501	0.0679748	0.255720092227061	0.18732	0.615465	0.37627	0	0.610034	0.51514	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.47	-2.94	0.05245	-0.403000	0.07275	-0.996000	0.06663	-1.784000	0.00647	0.001000	0.13787	0.000000	0.08366	0.477000	0.28498	0.1178:0.4452:0.0:0.4369	6.326	0.20451	803	0.44167	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	923.98	36	chr12	27501927	.	C	T	923.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.169e+00;DP=740;ExcessHet=0.0000;FS=3.526;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.22;ReadPosRankSum=0.579;SOR=0.346	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1113	20	0	1	0
chr12	29297064	29297064	C	G	exonic	FAR2	.	nonsynonymous SNV	FAR2:NM_001271784:exon3:c.C118G:p.L40V	.	.	.	.	.	.	.	.	.	.	.	2756019	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.095	B	0.102	B	0.968	N	1.000	N	1.135	L	1.98	T	-0.976	T	0.080	T	0.24	0.422	6.293	-0.276	0.019	-0.317	4.825	0.028	0.00667651658738	.	.	8.288e-05	0	0	0	0	0.0001	0	0.0002	7.12e-05	11	154602	rs780215182	3.836e-05	3.831e-05	3.816e-05	3.856e-05	9.322e-05	3.029e-05	2.723e-05	4.599e-05	3.287e-05	0	0	0	0	0	0	4.32e-05	0	9.322e-05	4.595e-05	4.593e-05	3.854e-05	5.371e-05	0.0004	2.108e-05	1.526e-05	7.282e-05	3.026e-05	0	0	6.539e-05	0	0	0	0	5.88e-05	0	0.0004	0.17	0.22833	T	0.518	0.21210	T	0.095	0.25437	B	0.102	0.30857	B	0.968053	0.07760	N	1.013570	1	0.08975	N	0.05	0.08135	N	0.99	0.41750	T	-0.5	0.15782	N	0.239	0.28264	-0.9757	0.35970	T	0.080	0.31675	T	10	0.045817614	0.03697	T	0.006677	0.17642	T	0.028	0.06331	.	.	0.200294437569	0.19612	0.22800551656623771	0.22715	0.45252203657	0.44970	0.309613883495	0.11849	T	0.047943	0.27871	T	-0.377278	0.03241	T	-0.564375	0.15969	T	0.0193250956708196	0.00638	T	0.50395	0.54143	T	0.074188866	0.16632	0.056583025	0.10137	0.074188866	0.16631	0.056583025	0.10137	-4.741	0.41178	T	.	.	0.069	0.06710	B	.;.;.;.	.;.;.;.	0.731963	0.11013	7.670	0.85475665006835644	0.15916	0.04352	0.09919	N	AEFDI	0.077813	0.15685	N	-0.741753089665844	0.14858	0.7437722	-0.751623571664548	0.15682	0.8259996	6.97991454739274E-4	0.07645	0.706298	0.61202	0	0.588015	0.36545	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.44	-0.276	0.12264	-0.549000	0.06131	-0.408000	0.09366	0.529000	0.24592	0.000000	0.06391	0.000000	0.08366	0.983000	0.59808	0.1439:0.4322:0.0:0.4239	4.825	0.12775	951	0.11083	Male sterility, NAD-binding;Male sterility, NAD-binding;Male sterility, NAD-binding;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1090.98	39	chr12	29297064	.	C	G	1090.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.034e+00;DP=789;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.80;ReadPosRankSum=0.041;SOR=0.743	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1104	20	0	1	0
chr12	29311098	29311098	C	T	exonic	FAR2	.	nonsynonymous SNV	FAR2:NM_001271784:exon6:c.C548T:p.T183I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	T	0.009	B	0.012	B	0.001	N	0.994	N	-1.59	N	1.98	T	-0.941	T	0.011	T	0.198	0.312	5.691	1.56	0.597	1.494	6.917	0.067	0.00265185455124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.758	0.03502	T	0.701	0.06147	T	0.009	0.15093	B	0.012	0.16012	B	0.001156	0.40056	N	0.212030	0.99353	0.23694	N	-0.695	0.01866	N	1.98	0.21865	T	2.73	0.00184	N	0.205	0.22742	-0.9411	0.42442	T	0.011	0.03996	T	10	0.03974697	0.02489	T	0.002652	0.05406	T	0.067	0.19503	0.562	0.68229	0.168254554758	0.16434	0.6445084295669288	0.64385	0.478096384883	0.46899	0.323771834373	0.13992	T	0.034525	0.23358	T	-0.235002	0.15991	T	-0.57534	0.14963	T	0.106398269534111	0.13047	T	0.80472	0.45238	T	0.049099836	0.08663	0.04227831	0.05000	0.049099836	0.08663	0.04227831	0.05000	-1.041	0.01437	T	.	.	0.083	0.16054	B	.;.;.	.;.;.	1.064764	0.14465	11.04	0.84620371807550532	0.15398	0.42766	0.26950	N	AEFBI	0.118235	0.23128	N	-0.899118992945602	0.10863	0.5212559	-0.699685928821288	0.16968	0.9001243	1.62962658824067E-4	0.05721	0.719381	0.83141	0	0.670034	0.63936	0	0.709663	0.75317	0	0.733575	0.97253	0	.	.	4.38	1.56	0.22423	1.432000	0.34545	0.226000	0.16132	0.580000	0.29708	0.883000	0.31049	0.003000	0.18671	0.966000	0.53164	0.0:0.7435:0.0:0.2565	6.917	0.23547	951	0.11083	Male sterility, NAD-binding;Male sterility, NAD-binding;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	155.75	35	chr12	29311098	.	C	T	155.75	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.820e+00;DP=1615;ExcessHet=0.3300;FS=89.849;InbreedingCoeff=-0.0786;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.43;ReadPosRankSum=0.920;SOR=9.926	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:111,15:126:39:0|1:29311098_C_T:0,39,4100:29311098	18	0	3	0
chr12	29495332	29495332	A	G	exonic	OVCH1	.	nonsynonymous SNV	OVCH1:NM_001353179:exon4:c.T407C:p.M136T,	.	.	434	1071	15	2	0	19	0.00879223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.901	P	0.399	B	.	.	1.000	N	0.235	N	-2.3	D	-0.621	T	0.354	T	0.376	1.168	9.753	-1.27	-0.245	0.219	4.884	0.337	0.0133570225336	0.0011	0.000599042	0.0007	0	0.0007	0	0	0.0012	0	0.0002	0.0006727	104	154602	rs145585474	0.0006	0.0006	0.0006	0.0006	0.0099	0.0005	0.0005	0.0078	0.0071	0.0005	0.0008	0.0081	0	3.749e-05	0.0099	0.0004	0.0014	0.0002	0.0008	0.0008	0.0007	0.0010	0.0016	0.0007	0.0007	0.0011	0.0010	9.618e-05	0.0230	0.0016	0.0089	0	0	0.0068	0.0006	0.0009	0	0.003	0.68238	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	-2.3	0.87671	D	-4.1	0.74900	D	0.387	0.42834	-0.6214	0.63931	T	0.354	0.71728	T	9	0.007379234	0.00168	T	0.013357	0.32703	T	0.337	0.65913	.	.	0.771612649732	0.76951	0.19048937656957088	0.18966	0.198141154326	0.22192	0.420207709074	0.27865	T	.	.	.	-0.259407	0.12969	T	-0.201745	0.54480	T	0.0664368857320869	0.08141	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.42749	B	.	.	1.185806	0.15766	12.09	0.97573721156912263	0.34692	0.19815	0.20806	N	AEFI	0.033367	0.03942	N	-0.482265707306602	0.22662	1.211648	-0.585589920534754	0.19869	1.06795	0.00284753427874371	0.09746	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.89	-1.27	0.08863	0.205000	0.17154	0.347000	0.17439	0.731000	0.85647	0.846000	0.30379	0.025000	0.21018	0.747000	0.35681	0.4511:0.3697:0.0:0.1792	4.884	0.13051	752	0.51611	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1045.98	35	chr12	29495332	.	A	G	1045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.660e-01;DP=866;ExcessHet=0.0000;FS=0.766;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.01;ReadPosRankSum=-4.770e-01;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,120,1800	20	0	1	0
chr12	30630939	30630939	T	C	exonic	IPO8	.	nonsynonymous SNV	IPO8:NM_001190995:exon21:c.A2420G:p.E807G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.726	P	0.557	P	0.005	N	0.965	D	1.965	M	1.59	T	-0.682	T	0.190	T	0.378	4.301	22.5	4.86	1.808	5.065	13.074	0.141	0.0111789308092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	0.586	0.38931	P	0.432	0.45448	B	0.004570	0.33608	N	0.130592	0.96549	0.38471	D	2.49	0.72568	M	1.59	0.53516	T	-4.55	0.78553	D	0.379	0.42345	-0.6819	0.61284	T	0.190	0.54093	T	10	0.30267453	0.47803	T	0.011179	0.28538	T	0.141	0.37795	0.514	0.61307	0.420780279148	0.41693	0.4299181865596742	0.42908	0.463953477707	0.45884	0.644040763378	0.59138	T	0.334842	0.70453	T	-0.0262857	0.47954	T	-0.275534	0.47259	T	0.984024167060852	0.75478	D	0.69563	0.30512	T	0.35101956	0.57146	0.42184418	0.66104	0.35101956	0.57146	0.42184418	0.66104	-11.933	0.84522	D	.	.	0.139	0.51985	B	.;.	.;.	4.046643	0.59952	24.2	0.99867544131296671	0.94547	0.95740	0.65952	D	AEFDBIJ	0.556805	0.56669	D	0.375105987109407	0.60075	4.192696	0.411266029817649	0.62264	4.439127	0.999991236806771	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.86	4.86	0.62624	5.077000	0.64249	7.174000	0.57733	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	13.074	0.58488	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2520.08	36	chr12	30630939	.	T	C	2520.08	.	AC=2;AF=0.048;AN=42;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.36;SOR=0.766	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1110	20	1	0	0
chr12	30726042	30726042	G	C	exonic	CAPRIN2	.	nonsynonymous SNV	CAPRIN2:NM_001385538:exon7:c.C761G:p.P254R	.	.	436	1007	74	5	0	84	0.0400381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.001	D	0.980	D	1.65	L	2.21	T	0.305	D	0.569	D	0.82	3.816	19.38	4.72	1.348	4.493	15.950	0.205	.	0.0062	0.0111821	0.0092	0.0008	0.0064	0	0.0041	0.0086	0.0188	0.0251	0.0086092	1331	154602	rs73079976	0.0075	0.0076	0.0068	0.0082	0.0250	0.0074	0.0073	0.0228	0.0225	0.0009	0.0059	0.0069	2.561e-05	0.0043	0.0250	0.0068	0.0083	0.0237	0.0062	0.0062	0.0061	0.0064	0.0255	0.0059	0.0058	0.0218	0.0204	0.0012	0	0.0109	0.0101	0.0002	0.0027	0.0340	0.0075	0.0142	0.0255	0.007	0.72154	D	0.012	0.69154	D	1.0	0.90584	D	1.0	0.97372	D	0.000820	0.41658	D	0.244148	0.870816	0.39633	D	2.175	0.60977	M	1.72	0.80301	T	-4.19	0.76822	D	0.718	0.76481	0.305	0.87642	D	0.569	0.84399	D	10	0.0067775548	0.00154	T	.	.	.	0.205	0.49236	.	.	0.648614416266	0.64569	0.5195242696993202	0.51875	0.359186557532	0.37614	0.546116471291	0.45309	T	0.181502	0.53319	T	-0.0767919	0.40235	T	0.135171	0.79231	D	0.0256440277215045	0.01358	T	0.950705	0.86917	D	.	.	.	.	.	.	.	.	-13.034	0.89503	D	.	.	0.856	0.83681	P	.;.;.;.;.	.;.;.;.;.	4.065732	0.60367	24.2	0.99821863177600145	0.90502	0.62678	0.31854	D	ALL	0.618364	0.60420	D	0.593248100385037	0.72752	5.855505	0.574672674676995	0.73129	5.920273	1.0	0.98316	0.730579	0.87903	0	0.633656	0.55848	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.62	4.72	0.59248	3.892000	0.55947	7.436000	0.58833	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.864:0.136	15.950	0.79616	917	0.20147	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1353.11	34	chr12	30726042	.	G	C	1353.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.455;DP=800;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=2.01;SOR=0.719	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1100	19	0	2	0
chr12	31091731	31091731	C	T	exonic	DDX11	.	nonsynonymous SNV	DDX11:NM_001257144:exon10:c.C1102T:p.P368S	Warsaw breakage syndrome, Autosomal recessive	.	1	1276	245	0	0	245	0.0875939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	D	1.000	D	3.4	M	1.14	T	-0.338	T	0.280	T	0.724	3.966	20.3	3.05	1.535	6.995	11.616	0.437	.	.	0.0223642	0.0002	0.0003	0.0002	0.0005	0.0003	0.0002	0	0	0.0008409	130	154602	rs201612562	0.0006	0.0035	0.0005	0.0007	0.0033	0.0005	0.0005	0.0028	0.0027	0.0002	0.0033	0.0005	0.0016	0.0013	0.0006	0.0004	0.0005	0.0007	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.013	0.57480	D	0.0	0.92824	D	1.0	0.90584	D	0.99	0.86255	D	0.000009	0.62929	D	0.114571	1	0.81001	D	.	.	.	1.14	0.38397	T	-7.74	0.95765	D	0.935	0.94668	-0.3380	0.73902	T	0.280	0.65170	T	10	0.0195221	0.00437	T	.	.	.	0.437	0.74164	.	.	0.584736501517	0.58146	0.856246594939591	0.85587	.	.	0.844346821308	0.88757	D	0.56607	0.85555	D	0.117933	0.66163	D	-0.0683742	0.65742	T	0.971576750278473	0.69369	D	0.946205	0.79675	D	0.8229996	0.85423	0.65729964	0.79931	0.8229996	0.85424	0.65729964	0.79931	-11.524	0.82967	D	.	.	0.597	0.70296	P	.;.;.;.	.;.;.;.	5.562741	0.92150	32	0.99906950704780995	0.97726	0.96748	0.70729	D	AEFBI	0.667814	0.63581	D	0.720063401293283	0.80945	7.408779	0.572471631206645	0.72975	5.895083	0.92097638106142	0.26654	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	3.05	3.05	0.34272	7.167000	0.77125	3.884000	0.40256	0.497000	0.22564	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	11.616	0.50348	976	0.04745	.;.;DEAD2|Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.1	441.68	95	chr12	31091731	.	C	T	441.68	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-1.645e+00;DP=2064;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1259;MLEAC=4;MLEAF=0.100;MQ=48.01;MQRankSum=-5.652e+00;QD=0.79;ReadPosRankSum=-2.792e+00;SOR=0.611	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	16	0	4	1
chr12	31096885	31096885	C	G	exonic	DDX11	.	nonsynonymous SNV	DDX11:NM_001257144:exon17:c.C1657G:p.Q553E	Warsaw breakage syndrome, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	738614	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.308	N	1.000	D	-1.02	N	0.52	T	-0.985	T	0.046	T	0.055	-1.134	0.114	1.61	0.167	2.182	11.725	0.104	.	.	0.00419329	0.0016	0	8.661e-05	0	0	0	0	0.0119	0.0014424	223	154602	rs535328861	0.0007	0.0007	0.0004	0.0011	0.0119	0.0007	0.0007	0.0112	0.0110	5.974e-05	0	0	0	0	0	1.799e-06	0.0007	0.0119	0.0005	0.0005	0.0003	0.0006	0.0139	0.0004	0.0003	0.0112	0.0103	0	0	0	0	0.0002	0	0	0	0.0005	0.0139	0.911	0.03412	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.308354	0.14477	N	0.640102	0.999973	0.53665	D	.	.	.	0.52	0.55266	T	0.45	0.03521	N	0.016	0.01203	-0.9854	0.33735	T	0.046	0.19559	T	10	0.0039102137	0.00075	T	.	.	.	0.104	0.29647	0.279	0.23323	0.373357554552	0.36949	0.17296254033501568	0.17216	.	.	0.393704712391	0.24190	T	0.03212	0.22347	T	-0.610338	0.00126	T	-0.640089	0.09662	T	0.0134876423848534	0.00246	T	0.607439	0.22904	T	0.03411586	0.03767	0.05304818	0.08861	0.032011777	0.03147	0.057234958	0.10366	-3.155	0.14775	T	.	.	0.054	0.00563	B	.;.;.;.	.;.;.;.	0.205593	0.05897	2.338	0.13000344870223066	0.00243	0.10093	0.15693	N	AEFBI	0.042220	0.06523	N	-1.12800259156437	0.06150	0.2823119	-1.02710279601586	0.09191	0.4559098	3.46197715963069E-4	0.06626	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	3.56	1.61	0.22752	2.348000	0.43701	1.960000	0.29933	-0.385000	0.05372	0.992000	0.37556	0.166000	0.23302	0.003000	0.05239	0.0:0.2491:0.7509:0.0	11.725	0.50970	976	0.04745	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1533.98	43	chr12	31096885	.	C	G	1533.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.398e+00;DP=1202;ExcessHet=0.0000;FS=2.208;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.97;MQRankSum=-1.054e+00;QD=11.36;ReadPosRankSum=-2.784e+00;SOR=0.490	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1323	20	0	1	0
chr12	31103648	31103648	G	C	exonic	DDX11	.	nonsynonymous SNV	DDX11:NM_004399:exon25:c.G2458C:p.V820L	Warsaw breakage syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.037	B	0.033	B	0.158	N	0.830	N	0.83	L	-2.89	D	-0.409	T	0.586	D	0.228	0.784	8.133	-1.26	-0.386	0.321	7.277	0.132	0.02636387208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.098	0.39040	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	0.999996	0.28777	N	.	.	.	-0.73	0.73100	T	1.38	0.00857	N	0.138	0.13626	-0.4093	0.71733	T	0.586	0.85131	D	9	0.100384384	0.18277	T	0.026364	0.49282	D	0.132	0.35948	0.465	0.53566	0.753307581479	0.75107	0.31133377068302653	0.31046	.	.	0.537653803825	0.44114	T	0.058439	0.30843	T	-0.088462	0.38329	T	-0.364846	0.37489	T	0.0656475663705456	0.08027	T	0.263874	0.04274	T	0.6402606	0.74844	0.35115352	0.60714	0.6402606	0.74846	0.35115352	0.60713	-2.805	0.08230	T	.	.	0.088	0.11606	B	.	.	0.748213	0.11177	7.816	0.93238544008024293	0.22923	0.19150	0.20547	N	AEFDBHCI	0.362619	0.45181	N	-1.06452926507695	0.07306	0.3389654	-1.14122500139138	0.06927	0.3350968	0.992377425300562	0.32817	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.563494	0.21769	0	.	.	3.14	-1.26	0.08892	0.379000	0.20315	-3.820000	0.02515	0.467000	0.21759	0.013000	0.18845	0.000000	0.08366	0.253000	0.23340	0.7447:0.0:0.2553:0.0	7.277	0.25466	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1511.98	72	chr12	31103648	.	G	C	1511.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.450e-01;DP=1551;ExcessHet=0.0000;FS=1.515;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=51.33;MQRankSum=-6.830e-01;QD=13.26;ReadPosRankSum=-5.160e-01;SOR=0.900	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1326	20	0	1	0
chr12	31479895	31479895	A	G	exonic	DENND5B	.	nonsynonymous SNV	DENND5B:NM_001366892:exon3:c.T598C:p.F200L	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	1.0	D	0.999	D	0.000	D	1.000	D	1.97	M	2.77	T	-1.141	T	0.073	T	0.915	4.265	22.3	4.65	1.955	8.897	14.255	0.468	0.0216816594003	.	.	3.317e-05	0	8.688e-05	0	0	0	0	0.0002	3.23e-05	5	154602	rs764363486	2.668e-05	2.668e-05	8.168e-06	4.539e-05	0.0004	1.998e-05	1.754e-05	0.0003	0.0002	0	0	0	0	0	0.0002	1.799e-06	8.282e-05	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.65419	D	0.011	0.79402	D	0.877	0.90584	P	0.781	0.92359	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.875	0.49914	L	2.77	0.11407	T	-4.46	0.81269	D	0.91	0.95021	-1.1405	0.01340	T	0.073	0.29515	T	10	0.82067746	0.81275	D	0.021682	0.44481	T	0.468	0.76289	0.737	0.86978	0.593587208821	0.59036	0.6827625042163464	0.68215	1.23181786945	0.81364	0.780183434486	0.78955	T	0.102535	0.41036	T	-0.00287109	0.51258	T	0.0640761	0.74515	D	0.443721178012216	0.30566	T	0.869313	0.58533	D	0.41689095	0.61884	0.383368	0.63302	0.41689095	0.61885	0.383368	0.63302	-9.02	0.72163	D	.	.	0.972	0.89775	P	.;.;.;.	.;.;.;.	4.733923	0.76271	26.5	0.99810326094142798	0.89442	0.99241	0.93311	D	AEFDGBI	0.904865	0.85568	D	0.56857437874715	0.71218	5.617847	0.571335694775879	0.72895	5.882285	0.999999999999766	0.74766	0.75658	0.98901	0	0.858454	0.99946	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.65	4.65	0.57626	9.085000	0.93471	11.230000	0.90066	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	1.0:0.0:0.0:0.0	14.255	0.65595	951	0.11083	cDENN domain|Tripartite DENN domain|cDENN domain;cDENN domain|Tripartite DENN domain|cDENN domain;.;cDENN domain|Tripartite DENN domain|cDENN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1727.98	161	chr12	31479895	.	A	G	1727.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.651e+00;DP=856;ExcessHet=0.0000;FS=2.006;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.73;ReadPosRankSum=-1.313e+00;SOR=0.913	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1164	20	0	1	0
chr12	31500446	31500446	G	A	exonic	DENND5B	.	nonsynonymous SNV	DENND5B:NM_001308339:exon2:c.C113T:p.S38L,	.	.	567	922	33	0	0	33	0.0175812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.893	P	0.519	P	0.143	U	1.000	N	.	.	4.55	T	-0.889	T	0.006	T	0.032	0.828	8.339	0.539	0.525	-0.583	.	0.053	.	.	0.00419329	0.0194	0	0.0341	0	.	0.0167	0.0405	0.0215	0.0026778	414	154602	rs141702066	0.0106	0.0052	0.0096	0.0115	0.0190	0.0103	0.0102	0.0147	0.0144	0.0020	0.0038	0.0089	0.0001	0.0015	0.0190	0.0118	0.0106	0.0156	0.0080	0.0080	0.0086	0.0074	0.0131	0.0076	0.0075	0.0124	0.0121	0.0021	0.0186	0.0065	0.0095	0.0002	0.0008	0.0136	0.0131	0.0052	0.0131	0.126	0.27194	T	0.123	0.35582	T	0.893	0.49136	P	0.519	0.48163	P	0.142966	0.18226	U	0.309743	1	0.08975	N	.	.	.	4.55	0.01948	T	-1.17	0.29933	N	0.03	0.00717	-0.8889	0.49029	T	0.006	0.01870	T	8	0.0034925938	0.00062	T	.	.	.	0.053	0.14996	.	.	.	.	0.06382100541606522	0.06321	.	.	.	.	.	0.021384	0.16659	T	-0.76798	0.00013	T	-0.863603	0.00805	T	0.00830917297184111	0.00100	T	0.705629	0.31596	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.18206	B	.	.	0.007160	0.04332	1.101	0.90153726147446234	0.19431	0.00230	0.01288	N	AEFBI	0.034594	0.04311	N	-0.671784551672223	0.16829	0.8608266	-0.928904405062539	0.11413	0.5813171	0.999657046820802	0.41424	0.554377	0.28877	0	0.588066	0.40923	0	0.315538	0.05692	2	0.613276	0.41899	0	.	.	0.539	0.539	0.16348	-1.590000	0.02205	-0.492000	0.08854	-1.495000	0.01039	0.000000	0.06391	0.004000	0.18990	0.001000	0.02609	.	.	.	958	0.09170	.	ETFBKMT	Thyroid	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	499.33	37	chr12	31500446	.	G	A	499.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.954e+00;DP=695;ExcessHet=0.0000;FS=3.091;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=59.77;MQRankSum=1.78;QD=13.50;ReadPosRankSum=-7.580e-01;SOR=0.293	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1123	19	0	1	1
chr12	31980974	31980974	C	A	exonic	RESF1	.	nonsynonymous SNV	RESF1:NM_018169:exon4:c.C19A:p.P7T,	.	.	432	1071	17	2	0	21	0.00970874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.985	D	0.785	P	0.060	N	1.000	N	0.895	L	2.86	T	-1.089	T	0.067	T	0.261	3.005	16.02	4.3	1.172	1.686	11.982	0.078	.	0.0002	0.00259585	0.0026	0	0.0008	0.0001	0	0.0003	0.0012	0.0212	0.0021022	325	154602	rs150927474	0.0012	0.0012	0.0006	0.0017	0.0167	0.0011	0.0011	0.0160	0.0157	6.068e-05	0.0002	3.917e-05	0	3.764e-05	0.0065	0.0002	0.0013	0.0167	0.0007	0.0007	0.0004	0.0009	0.0139	0.0006	0.0005	0.0112	0.0103	0	0.0011	0.0003	0	0	0	0.0034	0.0004	0	0.0139	0.0	0.91255	D	0.0	0.92824	D	0.985	0.61118	D	0.785	0.57495	P	0.059557	0.22315	N	0.381540	1	0.08975	N	1.79	0.46772	L	2.86	0.22270	T	-8.0	0.96495	D	0.274	0.31027	-1.0895	0.05616	T	0.067	0.27572	T	10	0.0033395588	0.00058	T	.	.	.	0.078	0.22779	.	.	0.215109475489	0.21095	0.38457686279474934	0.38372	0.0490504788645	0.05365	0.345513343811	0.17260	T	0.08574	0.37569	T	-0.480207	0.00737	T	-0.449587	0.27742	T	0.153821343422295	0.17404	T	0.734027	0.37241	T	0.30231315	0.53112	0.22810557	0.47841	0.30231315	0.53112	0.22810557	0.47840	-3.89	0.22152	T	.	.	0.097	0.36811	B	.;.;.	.;.;.	3.370509	0.46573	22.3	0.99347992340563462	0.60452	0.85999	0.45201	D	AEFBI	0.063058	0.12162	N	-0.00214455778623099	0.41759	2.503551	-0.101655823674498	0.35323	2.042288	0.997642465401557	0.35855	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.19	4.3	0.50540	1.825000	0.38720	2.598000	0.33506	0.599000	0.40250	0.957000	0.33433	0.975000	0.29991	0.851000	0.40252	0.0:0.9179:0.0:0.0821	11.982	0.52413	958	0.09170	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1857.98	33	chr12	31980974	.	C	A	1857.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=845;ExcessHet=0.0000;FS=1.387;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.61;ReadPosRankSum=-1.125e+00;SOR=0.533	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1295	20	0	1	0
chr12	31981001	31981001	T	C	exonic	RESF1	.	nonsynonymous SNV	RESF1:NM_018169:exon4:c.T46C:p.Y16H,	.	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	1.0	D	0.98	D	0.946	N	1.000	N	0.975	L	3.07	T	-1.032	T	0.057	T	0.557	3.035	16.13	4.26	0.887	1.309	4.802	0.152	0.00745944780428	.	.	.	.	.	.	.	.	.	.	.	.	.	rs757422762	4.106e-06	4.104e-06	1.362e-06	6.878e-06	0.0002	1.48e-06	9.7e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	4.969e-05	0	6.569e-06	6.566e-06	0	1.344e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.98	0.74843	D	0.945961	0.08321	N	0.968830	1	0.08975	N	1.79	0.46772	L	3.07	0.11839	T	-5.0	0.82341	D	0.528	0.55713	-1.0325	0.19650	T	0.057	0.23791	T	10	0.186252	0.34081	T	0.007459	0.19792	T	0.152	0.39956	0.333	0.32005	0.198526703765	0.19489	0.50357226142392	0.50279	0.0533634687779	0.05882	0.440320253372	0.30620	T	0.04875	0.28108	T	-0.0972748	0.36874	T	-0.377505	0.36013	T	0.891945064067841	0.54297	D	0.768923	0.42759	T	0.26343736	0.49408	0.21754229	0.46424	0.26343736	0.49408	0.21754229	0.46423	-4.093	0.25187	T	.	.	0.198	0.58399	B	.;.;.	.;.;.	3.182908	0.43212	21.7	0.99507975409651694	0.68440	0.21157	0.21301	N	AEFBI	0.073345	0.14667	N	-0.137942919163689	0.35748	2.057384	-0.282826778927027	0.28663	1.599924	0.963025805950087	0.28662	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	4.26	0.49832	1.426000	0.34478	2.332000	0.32201	0.665000	0.62972	0.788000	0.29570	0.951000	0.29025	0.797000	0.37605	0.2077:0.0872:0.0:0.7051	4.802	0.12668	958	0.09170	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1166.98	33	chr12	31981001	.	T	C	1166.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.93;DP=910;ExcessHet=0.0000;FS=3.771;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.91;ReadPosRankSum=-4.510e-01;SOR=1.084	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1295	20	0	1	0
chr12	31984133	31984133	A	G	exonic	RESF1	.	nonsynonymous SNV	RESF1:NM_018169:exon4:c.A3178G:p.K1060E,	.	.	433	1073	16	0	0	16	0.00740056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	B	0.073	B	0.044	N	0.996	N	1.645	L	1.95	T	-1.052	T	0.040	T	0.198	3.048	16.17	2.89	0.950	1.092	8.287	0.026	.	0.0020	0.00299521	0.0058	0.0004	0.0010	0	0.0106	0.0040	0.0121	0.0210	0.0051164	791	154602	rs78737813	0.0041	0.0041	0.0035	0.0047	0.0212	0.0040	0.0040	0.0204	0.0201	0.0004	0.0010	0.0003	0.0002	0.0104	0.0056	0.0030	0.0039	0.0212	0.0029	0.0029	0.0024	0.0035	0.0189	0.0027	0.0026	0.0157	0.0146	0.0002	0	0.0007	0.0006	0	0.0093	0	0.0034	0.0019	0.0189	0.046	0.40573	D	0.074	0.42976	T	0.323	0.33082	B	0.073	0.28123	B	0.043789	0.23704	N	0.402050	0.995831	0.23188	N	1.75	0.45442	L	1.95	0.22474	T	-2.92	0.61129	D	0.354	0.39558	-1.0521	0.13818	T	0.040	0.17106	T	9	0.007663965	0.00174	T	.	.	.	0.026	0.05648	.	.	0.154104182512	0.14974	0.4312716726819004	0.43044	0.024555667794	0.02494	0.361968308687	0.19672	T	0.025851	0.19251	T	-0.541556	0.00328	T	-0.533765	0.18912	T	0.0211425865757909	0.00816	T	0.577942	0.20808	T	0.23973441	0.46867	0.2556322	0.51248	0.23973441	0.46867	0.2556322	0.51248	-3.872	0.21884	T	.	.	0.121	0.25265	B	.	.	3.033385	0.40645	21.2	0.99732809263607347	0.82904	0.43146	0.27034	N	AEFGBCI	0.037849	0.05269	N	-0.191140723612157	0.33502	1.901415	-0.104619187741372	0.35204	2.033924	0.999139062489065	0.38535	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.57	2.89	0.32713	1.101000	0.30650	4.663000	0.44246	0.756000	0.94297	0.992000	0.37556	1.000000	0.68203	0.957000	0.51019	0.7627:0.0:0.2373:0.0	8.287	0.31097	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1957.98	71	chr12	31984133	.	A	G	1957.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.014;DP=1809;ExcessHet=0.0000;FS=4.640;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.80;ReadPosRankSum=-2.600e-02;SOR=1.037	GT:AD:DP:GQ:PL	0/0:81,0:81:99:0,120,1800	20	0	1	0
chr12	31984967	31984967	A	G	exonic	RESF1	.	nonsynonymous SNV	RESF1:NM_018169:exon4:c.A4012G:p.T1338A,	.	.	423	1088	10	1	0	12	0.00548446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	B	0.008	B	0.022	N	1.000	N	0	N	2.74	T	-1.011	T	0.001	T	0.037	0.957	8.903	-8.75	-1.463	-2.164	5.098	0.003	.	0.0008	0.0257588	0.0123	0.0009	0.0313	0.1084	0.0041	0.0013	0.0044	0.0038	0.0114811	1775	154602	rs3759296	0.0044	0.0044	0.0045	0.0043	0.0895	0.0043	0.0043	0.0871	0.0861	0.0005	0.0264	0.0028	0.0895	0.0042	0.0021	0.0004	0.0081	0.0047	0.0062	0.0062	0.0054	0.0072	0.1032	0.0059	0.0058	0.0960	0.0931	0.0012	0	0.0131	0.0029	0.1032	0.0049	0	0.0005	0.0061	0.0110	0.443	0.09182	T	0.922	0.02855	T	0.023	0.18885	B	0.008	0.13708	B	0.022031	0.01564	N	2.186560	1	0.08975	N	0.69	0.16971	N	2.74	0.11730	T	-0.78	0.21644	N	0.015	0.00181	-1.0108	0.26666	T	0.001	0.00255	T	9	0.0015259683	0.00017	T	.	.	.	0.003	0.00094	.	.	.	.	0.06446763811032433	0.06385	0.00905915386258	0.00821	0.207106500864	0.00695	T	0.007368	0.06780	T	-0.805028	0.00007	T	-0.84229	0.01065	T	0.00249293249243826	0.00026	T	0.433757	0.11839	T	0.028622765	0.02227	0.019876044	0.00108	0.028622765	0.02227	0.019876044	0.00108	-3.858	0.21674	T	.	.	0.092	0.13644	B	.	.	-1.197060	0.00533	0.012	0.54390610530725902	0.05128	0.03590	0.08812	N	AEFBCI	0.031403	0.03353	N	-1.47099549009913	0.02057	0.09042917	-1.56566118211406	0.01870	0.08525006	0.999977303689281	0.50053	0.67177	0.52595	0	0.606735	0.50208	0	0.702456	0.68683	0	0.645665	0.59343	0	.	.	5.3	-8.75	0.00721	-2.262000	0.01257	-1.811000	0.04683	-0.092000	0.16129	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.216:0.2115:0.4686:0.1039	5.098	0.14081	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1808.98	51	chr12	31984967	.	A	G	1808.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.830e-01;DP=1546;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.70;ReadPosRankSum=0.483;SOR=0.670	GT:AD:DP:GQ:PL	0/0:89,0:89:99:0,120,1800	20	0	1	0
chr12	32582346	32582346	G	A	exonic	FGD4	.	nonsynonymous SNV	FGD4:NM_001330373:exon3:c.G200A:p.G67D	Charcot-Marie-Tooth disease, type 4H, Autosomal recessive	.	0	1513	8	1	0	10	0.00329381	.	.	244819	Charcot-Marie-Tooth_disease_type_4H|not_provided|Charcot-Marie-Tooth_disease|Inborn_genetic_diseases|Charcot-Marie-Tooth_disease_type_4	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311,Orphanet:99954|MedGen:C3661900|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.46	T	0.005	B	0.005	B	0.349	N	1.000	N	0.695	N	-0.42	T	-0.996	T	0.167	T	0.133	1.731	11.75	2.18	0.161	-0.001	7.333	0.044	0.0316476126348	0.0002	.	0.0004	9.656e-05	0.0004	0	0	0.0004	0	0.0013	0.0003622	56	154602	rs201826412	0.0003	0.0003	0.0002	0.0003	0.0019	0.0003	0.0003	0.0014	0.0013	2.987e-05	0.0002	7.653e-05	0	0	0.0019	0.0002	0.0003	0.0016	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	7.24e-05	0	0.0001	0	0	0	0	0.0005	0	0.0010	0.121	0.27783	T	0.086	0.40909	T	0.001	0.12996	B	0.003	0.11217	B	0.348834	0.13848	N	0.650048	1	0.18612	N	0.695	0.17993	N	-0.5	0.70480	T	-1.61	0.81187	N	0.034	0.01999	-0.9962	0.30974	T	0.167	0.50648	T	10	0.012518853	0.00269	T	0.031648	0.53678	D	0.044	0.11924	.	.	0.743091199223	0.74078	0.14457683029510804	0.14380	0.418897643177	0.42460	0.234417408705	0.02310	T	0.016153	0.37306	T	-0.46617	0.00899	T	-0.477775	0.24683	T	0.00327921090200911	0.00035	T	0.637336	0.25103	T	0.053886205	0.10261	0.08108112	0.18396	0.050132044	0.09008	0.08356227	0.19157	-2.635	0.06774	T	.	.	0.077	0.19194	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.077394	0.03778	0.793	0.86480941779673037	0.16565	0.12168	0.17102	N	AEFDBI	0.083172	0.16847	N	-0.980624759185125	0.09018	0.4251004	-0.972228379834338	0.10412	0.524222	0.985520181332033	0.30902	0.645754	0.44609	0	0.491513	0.07743	0	0.702456	0.68683	0	0.723	0.93126	0	.	.	5.04	2.18	0.26813	0.022000	0.13402	-0.432000	0.09215	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.172000	0.21044	0.1508:0.1366:0.7126:0.0	7.333	0.25766	900	0.24599	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2371.98	50	chr12	32582346	.	G	A	2371.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.744e+00;DP=980;ExcessHet=0.0000;FS=0.577;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.20;ReadPosRankSum=1.56;SOR=0.778	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1209	20	0	1	0
chr12	32755145	32755145	C	T	exonic	YARS2	.	nonsynonymous SNV	YARS2:NM_001040436:exon1:c.G730A:p.G244R,	Myopathy, lactic acidosis, and sideroblastic anemia 2, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.12	H	-3.72	D	1.088	D	0.953	D	0.995	4.597	25.0	4.97	1.496	7.556	13.462	0.967	0.359161516086	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1345057239	1.368e-06	1.368e-06	0	2.75e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.65	0.99371	H	-3.72	0.95422	D	-7.36	0.94647	D	0.99	0.99725	1.088	0.99146	D	0.953	0.98456	D	10	0.99277556	0.99812	D	0.359162	0.92467	D	0.967	0.99571	0.983	0.99835	0.87456900688	0.87334	0.9596182592128978	0.95947	1.49302492565	0.86914	0.739516615868	0.72902	T	0.698693	0.91304	D	0.493166	0.94088	D	0.567477	0.96189	D	0.999752819538116	0.98831	D	0.971103	0.89589	D	0.97762394	0.98923	0.9908132	0.99984	0.97762394	0.98923	0.9908132	0.99984	-12.995	0.89343	D	0.8919925867649886	0.94634	0.926	0.84680	P	.	.	5.497151	0.91543	32	0.99912758973917637	0.98167	0.60995	0.31356	D	ALL	0.888545	0.82176	D	0.84934341144086	0.89071	9.82318	0.704580888815871	0.82727	7.839096	1.0	0.98316	0.441713	0.08003	0	0.504199	0.08210	0	0.52208	0.10781	0	0.273489	0.05413	2	.	.	5.86	4.97	0.65419	7.635000	0.82446	7.612000	0.61951	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.9279:0.0:0.0721	13.462	0.60683	764	0.49969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2863.98	35	chr12	32755145	.	C	T	2863.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=881;ExcessHet=0.0000;FS=0.545;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.40;ReadPosRankSum=1.38;SOR=0.756	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1279	20	0	1	0
chr12	32755622	32755622	C	G	exonic	YARS2	.	nonsynonymous SNV	YARS2:NM_001040436:exon1:c.G253C:p.D85H,	Myopathy, lactic acidosis, and sideroblastic anemia 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.973	D	0.000	D	1.000	D	2.985	M	0.74	T	-0.422	T	0.301	T	0.678	3.844	19.53	2.72	1.198	5.299	9.128	0.313	0.120665591044	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1167016632	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.005	0.72224	D	1.0	0.90584	D	0.973	0.72923	D	0.000003	0.62929	D	0.101229	1	0.81001	D	3.69	0.94526	H	0.74	0.50459	T	-4.99	0.82221	D	0.801	0.79696	-0.4221	0.71323	T	0.301	0.67186	T	10	0.8488797	0.84060	D	0.120666	0.80126	D	0.313	0.63482	0.632	0.76810	0.531727546574	0.52820	0.6799314687224141	0.67932	1.36873852786	0.84485	0.753081560135	0.74901	T	0.523042	0.83356	D	0.0370084	0.56652	T	-0.0877624	0.64330	T	0.984026432037354	0.75478	D	0.968203	0.88468	D	0.8620016	0.88238	0.79993373	0.88266	0.8620016	0.88240	0.79993373	0.88266	-9.623	0.71622	D	0.6614480898340025	0.73500	0.436	0.61500	A	.	.	5.070472	0.84568	28.3	0.99331596388332644	0.59816	0.48630	0.28250	N	ALL	0.677355	0.64208	D	0.627615201166171	0.74926	6.216742	0.507018567338595	0.68460	5.223258	0.999999999999996	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.64	2.72	0.31179	5.354000	0.65806	4.621000	0.44076	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.742000	0.35507	0.145:0.7772:0.0:0.0778	9.128	0.35989	764	0.49969	Aminoacyl-tRNA synthetase, class I, conserved site	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2707.98	35	chr12	32755622	.	C	G	2707.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.437e+00;DP=930;ExcessHet=0.0000;FS=4.627;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=1.76;SOR=0.896	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr12	32796167	32796167	G	T	exonic	PKP2	.	nonsynonymous SNV	PKP2:NM_001005242:exon11:c.C2299A:p.R767S	Arrhythmogenic right ventricular dysplasia 9, Autosomal dominant	.	2	1503	15	2	0	19	0.00628099	.	.	54235	Familial_isolated_arrhythmogenic_right_ventricular_dysplasia|Arrhythmogenic_right_ventricular_dysplasia_9|not_specified|PKP2-related_disorder|not_provided|Long_QT_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy|Cardiomyopathy|Cardiovascular_phenotype	MONDO:MONDO:0016342,MedGen:C4274968,OMIM:PS107970,Orphanet:217656|MONDO:MONDO:0012180,MedGen:C1836906,OMIM:609040|MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.434	B	0.219	B	0.004	N	1.000	D	2.585	M	0.78	T	-0.636	T	0.201	T	0.85	3.477	17.80	5.06	2.508	3.303	17.583	0.257	0.0993497817025	0.0004	0.000599042	0.0009	9.61e-05	0.0010	0	0	0.0012	0.0066	0.0006	0.000815	126	154602	rs139734328	0.0009	0.0009	0.0008	0.0009	0.0073	0.0008	0.0008	0.0055	0.0049	0.0002	0.0008	0.0088	0	5.616e-05	0.0073	0.0007	0.0014	0.0006	0.0007	0.0007	0.0009	0.0006	0.0009	0.0006	0.0006	0.0007	0.0006	0.0001	0	0.0009	0.0081	0	0	0.0068	0.0008	0.0024	0.0008	0.008	0.63226	D	0.024	0.58089	D	0.267	0.35666	B	0.219	0.37734	B	0.003870	0.34390	N	0.241969	0.999853	0.49910	D	2.98	0.85499	M	0.78	0.49358	T	-3.22	0.64939	D	0.807	0.80278	-0.6358	0.63324	T	0.201	0.55794	T	10	0.020314664	0.00466	T	0.09935	0.77093	D	0.257	0.56827	.	.	0.727649319239	0.72523	0.5871319377748647	0.58643	0.537282136197	0.51035	0.515904903412	0.41050	T	0.573089	0.85897	D	-0.098817	0.36622	T	0.0232861	0.71843	D	0.0884483553174462	0.11032	T	0.786621	0.44603	T	0.34008333	0.56286	0.30969483	0.56983	0.39117417	0.60116	0.28971195	0.54991	-7.296	0.56167	T	0.4663457836462882	0.54761	0.482	0.67744	A	.;.	.;.	3.374374	0.46641	22.3	0.99531087898468584	0.69901	0.81649	0.41011	D	AEFGBI	0.714945	0.66726	D	0.238149991971774	0.53055	3.476272	0.304818569648226	0.55822	3.745053	0.99977898604337	0.42865	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.668105	0.65232	0	.	.	5.06	5.06	0.67838	3.692000	0.54460	6.332000	0.55462	0.671000	0.69459	0.919000	0.31930	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	17.583	0.87871	714	0.56256	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.04762	3508.11	35	chr12	32796167	.	G	T	3508.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.47;DP=1068;ExcessHet=0.1072;FS=0.911;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=1.27;SOR=0.663	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,102,1530	19	0	2	0
chr12	32850772	32850772	T	C	exonic	PKP2	.	nonsynonymous SNV	PKP2:NM_001005242:exon5:c.A1372G:p.I458V	Arrhythmogenic right ventricular dysplasia 9, Autosomal dominant	YES	2	1502	18	0	0	18	0.00595632	.	.	54188	Cardiomyopathy|not_specified|Arrhythmogenic_right_ventricular_dysplasia_9|PKP2-related_disorder|Cardiovascular_phenotype|Primary_dilated_cardiomyopathy|not_provided	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0012180,MedGen:C1836906,OMIM:609040|.|MedGen:CN230736|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.91	T	0.956	P	0.712	P	0.004	N	0.956	D	0.555	N	0.86	T	-0.803	T	0.193	T	0.384	3.001	16.01	4.7	1.880	3.390	10.608	0.238	0.131746136054	.	0.00159744	0.0013	0	8.654e-05	0	0	6.005e-05	0.0022	0.0091	0.0010737	166	154602	rs199571473	0.0006	0.0006	0.0003	0.0009	0.0095	0.0006	0.0006	0.0089	0.0087	8.977e-05	2.236e-05	0	2.519e-05	0	0.0031	2.609e-05	0.0006	0.0095	0.0004	0.0004	0.0003	0.0005	0.0095	0.0003	0.0003	0.0073	0.0066	2.407e-05	0	0	0	0	0	0.0034	0.0001	0	0.0095	0.329	0.13175	T	0.105	0.39190	T	0.783	0.54666	P	0.588	0.54017	P	0.004144	0.34057	N	0.315671	0.95626	0.37965	D	0.73	0.18813	N	-0.36	0.68754	T	-0.57	0.19297	N	0.359	0.40063	-0.8034	0.54944	T	0.193	0.54667	T	10	0.009797215	0.00220	T	0.131746	0.81402	D	0.238	0.54217	.	.	0.561255953167	0.55787	0.12082017086383469	0.12009	0.528918376042	0.50453	0.590106010437	0.51509	T	0.141046	0.47591	T	-0.366006	0.03801	T	-0.292545	0.45508	T	0.0578029969033374	0.06818	T	0.766723	0.39447	T	0.10640072	0.25160	0.06553663	0.13298	0.10064365	0.23766	0.092574775	0.21824	-3.903	0.22348	T	0.2217153081542665	0.29907	0.138	0.58617	B	.;.	.;.	3.147412	0.42591	21.6	0.99848325046109443	0.92750	0.86419	0.45695	D	AEFDBI	0.532488	0.55233	D	0.054228577332818	0.44337	2.709635	0.133071421694827	0.46251	2.87414	0.0284775564298479	0.13834	0.553676	0.25195	0	0.573888	0.26702	0	0.527494	0.11647	0	0.620846	0.47308	0	.	.	4.7	4.7	0.58776	3.398000	0.52325	4.908000	0.45924	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.1612:0.8388	10.608	0.44594	666	0.61362	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1737.98	33	chr12	32850772	.	T	C	1737.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.477;DP=875;ExcessHet=0.0000;FS=2.854;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-4.150e-01;SOR=0.586	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1291	20	0	1	0
chr12	33406850	33406850	A	G	exonic	SYT10	.	nonsynonymous SNV	SYT10:NM_198992:exon3:c.T1016C:p.F339S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.141	B	0.155	B	0.001	U	1.000	D	1.7	L	0.82	T	-0.922	T	0.143	T	0.871	4.228	22.0	4.73	2.056	8.943	14.102	0.383	0.00515483998122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.073	0.43159	T	0.141	0.27581	B	0.155	0.34417	B	0.000661	0.42516	U	0.000000	0.999998	0.58761	D	1.905	0.50856	L	0.82	0.48142	T	-3.75	0.71157	D	0.735	0.73555	-0.9216	0.45334	T	0.143	0.46404	T	10	0.81537676	0.80782	D	0.005155	0.13094	T	0.383	0.70029	0.704	0.84054	0.631006925375	0.62798	0.625804982376794	0.62513	0.869581675858	0.69348	0.638534784317	0.58356	T	0.545282	0.84504	D	0.196855	0.73598	D	0.0449926	0.73254	D	0.988740742206573	0.79039	D	0.825917	0.48908	T	0.38063535	0.59363	0.43536723	0.67025	0.38063535	0.59363	0.43536723	0.67025	-13.058	0.89601	D	.	.	0.711	0.73409	P	.	.	4.300127	0.65647	24.9	0.99883845278458794	0.95970	0.98473	0.83148	D	AEFGI	0.932134	0.92203	D	0.188164757938704	0.50632	3.251241	0.316852220466317	0.56530	3.816414	0.997298611019804	0.35467	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.73	4.73	0.59485	8.984000	0.93044	11.003000	0.84787	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.102	0.64593	906	0.23090	C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1381.98	33	chr12	33406850	.	A	G	1381.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.770e-01;DP=809;ExcessHet=0.0000;FS=0.727;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.56;ReadPosRankSum=0.753;SOR=0.558	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1247	20	0	1	0
chr12	38316969	38316969	G	C	exonic	ALG10B	.	nonsynonymous SNV	ALG10B:NM_001013620:exon1:c.G76C:p.A26P	.	.	1	1489	31	1	0	33	0.0109598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.875	P	0.359	B	0.096	N	0.843	D	1.32	L	1.47	T	-0.940	T	0.090	T	0.753	2.557	14.51	3.64	2.309	1.777	11.129	0.119	0.00812542265035	0.0004	0.000599042	0.0010	9.61e-05	0.0004	0	0	0.0006	0.0011	0.0044	0.0008603	133	154602	rs138776092	0.0006	0.0006	0.0004	0.0007	0.0061	0.0005	0.0005	0.0045	0.0039	5.974e-05	0.0004	0.0031	0	3.744e-05	0.0061	0.0003	0.0011	0.0037	0.0005	0.0005	0.0004	0.0006	0.0029	0.0004	0.0004	0.0018	0.0014	2.408e-05	0	0.0013	0.0035	0	9.439e-05	0.0034	0.0004	0.0005	0.0029	0.262	0.17584	T	0.302	0.20680	T	0.875	0.48103	P	0.359	0.43123	B	0.096447	0.20075	N	0.550372	0.842872	0.35095	D	1.15	0.29295	L	1.47	0.46412	T	-1.64	0.39314	N	0.624	0.63883	-0.9401	0.42600	T	0.090	0.34518	T	10	0.0061244965	0.00138	T	0.008125	0.21521	T	0.119	0.33137	.	.	0.472663046089	0.46895	0.8018057571902771	0.80134	0.183546563352	0.20647	0.748672485352	0.74251	T	0.014684	0.12455	T	-0.305399	0.08160	T	-0.212299	0.53476	T	0.0333560584152689	0.02529	T	0.871313	0.57716	D	0.83190286	0.86035	0.785521	0.87368	0.83190286	0.86036	0.785521	0.87369	-7.359	0.56615	T	.	.	0.507	0.64884	A	.;.	.;.	4.292033	0.65461	24.8	0.98926935098986968	0.48676	0.17397	0.19819	N	ALL	0.492468	0.52910	N	0.0950935153286677	0.46233	2.86691	0.089204549299139	0.44002	2.690621	0.999999985739905	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.372554	0.06265	0	.	.	3.64	3.64	0.40864	1.643000	0.36833	5.126000	0.47622	0.575000	0.29119	0.348000	0.25742	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	11.129	0.47560	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2208.98	37	chr12	38316969	.	G	C	2208.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.317e+00;DP=921;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.98;MQRankSum=-9.280e-01;QD=12.48;ReadPosRankSum=0.609;SOR=0.670	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr12	38320549	38320549	T	G	exonic	ALG10B	.	nonsynonymous SNV	ALG10B:NM_001013620:exon3:c.T758G:p.L253W,	.	.	0	1474	48	0	0	48	0.0160214	.	.	2806854	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.71	P	0.225	B	0.065	N	1.000	N	2.445	M	1.42	T	-1.040	T	0.055	T	0.481	-0.287	2.629	2.07	0.619	3.292	6.788	0.185	0.00770233636556	0.0040	0.00179712	0.0042	0.0007	0.0064	0	0.0017	0.0052	0.0077	0.0042	0.003868	598	154602	rs140475027	0.0040	0.0040	0.0038	0.0041	0.0362	0.0039	0.0038	0.0322	0.0307	0.0008	0.0059	0.0070	2.52e-05	0.0013	0.0362	0.0039	0.0051	0.0041	0.0035	0.0035	0.0034	0.0036	0.0068	0.0032	0.0031	0.0057	0.0053	0.0007	0	0.0068	0.0058	0	0.0014	0.0340	0.0048	0.0062	0.0031	0.003	0.68238	D	0.026	0.55759	D	0.71	0.42074	P	0.225	0.38015	B	0.064624	0.21939	N	0.451949	0.999998	0.08975	N	2.575	0.75298	M	1.42	0.33189	T	-2.09	0.47683	N	0.552	0.57775	-1.0403	0.17223	T	0.055	0.23110	T	10	0.011118591	0.00244	T	0.007702	0.20431	T	0.185	0.45933	.	.	0.39724302092	0.39341	0.6957569625041998	0.69516	0.346047988278	0.36510	0.411681234837	0.26689	T	0.010982	0.09859	T	-0.398708	0.02361	T	-0.341488	0.40176	T	0.0361847429335446	0.03013	T	0.777622	0.41060	T	0.48294085	0.66078	0.5278043	0.72718	0.48294085	0.66079	0.5278043	0.72719	-6.486	0.50178	T	.	.	0.171	0.37577	B	.	.	2.245438	0.28674	17.88	0.74873181228380092	0.10859	0.92126	0.55002	D	AEFGI	0.296366	0.40623	N	-0.170831569317233	0.34354	1.959765	-0.300225260857327	0.28091	1.563584	8.2712102038478E-5	0.04703	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	3.23	2.07	0.26004	3.378000	0.52164	4.034000	0.41364	0.552000	0.28158	0.974000	0.34632	1.000000	0.68203	0.735000	0.35267	0.0:0.1196:0.0:0.8803	6.788	0.22866	867	0.32089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3538.98	33	chr12	38320549	.	T	G	3538.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.720e-01;DP=1130;ExcessHet=0.0000;FS=0.897;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.64;MQRankSum=0.095;QD=12.29;ReadPosRankSum=1.67;SOR=0.777	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1276	20	0	1	0
chr12	39332911	39332911	G	A	exonic	KIF21A	.	nonsynonymous SNV	KIF21A:NM_001173465:exon17:c.C2576T:p.P859L	Fibrosis of extraocular muscles, congenital, 1, Autosomal dominant;Fibrosis of extraocular muscles, congenital, 3B, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	738626	KIF21A-related_disorder|Inborn_genetic_diseases|not_provided|Congenital_fibrosis_of_extraocular_muscles_type_1	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.67	T	0.036	B	0.018	B	0.538	N	1.000	N	1.59	L	-0.32	T	-0.950	T	0.163	T	0.29	0.051	4.278	3.44	1.379	3.191	13.447	0.039	0.0301327822504	0.0007	0.00119808	0.0008	0.0009	0	0	0	0.0004	0.0011	0.0041	0.0007244	112	154602	rs149718388	0.0005	0.0005	0.0004	0.0006	0.0038	0.0005	0.0005	0.0035	0.0033	0.0009	0	3.826e-05	2.519e-05	5.616e-05	0.0002	0.0003	0.0006	0.0038	0.0005	0.0005	0.0005	0.0006	0.0044	0.0004	0.0004	0.0029	0.0025	0.0006	0	6.549e-05	0	0.0002	0	0	0.0004	0	0.0044	0.03	0.46513	D	0.515	0.22962	T	0.029	0.20732	B	0.014	0.18489	B	0.538351	0.11563	N	0.749870	1	0.08975	N	0.695	0.17993	N	-0.41	0.69536	T	-3.05	0.64826	D	0.127	0.19995	-0.9502	0.40938	T	0.163	0.49897	T	10	0.008099318	0.00184	T	0.030133	0.52511	D	0.096	0.27654	.	.	0.704881100643	0.70231	0.1717208336995281	0.17092	0.269153642095	0.29430	0.382805287838	0.22654	T	0.037349	0.35863	T	-0.411157	0.01953	T	-0.363519	0.37645	T	0.0293848799807004	0.01895	T	0.743826	0.36376	T	0.040857863	0.05909	0.053731184	0.09108	0.044193167	0.07020	0.052044023	0.08496	-4.386	0.31006	T	0.1496355037924399	0.17513	0.075	0.05711	B	.;.;.;.;.	.;.;.;.;.	2.520475	0.32570	19.08	0.78372640523614312	0.12273	0.50027	0.28568	D	ALL	0.173995	0.30110	N	-0.371508637988561	0.26490	1.446065	-0.438988941593598	0.23863	1.303571	0.996927906509899	0.35121	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.635551	0.53088	0	.	.	5.58	3.44	0.38486	3.516000	0.53194	6.409000	0.55591	-0.103000	0.15852	0.790000	0.29595	0.997000	0.33255	0.003000	0.05239	0.149:0.0:0.851:0.0	13.447	0.60597	811	0.42639	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	731.98	34	chr12	39332911	.	G	A	731.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.10;DP=781;ExcessHet=0.0000;FS=2.863;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=0.962;SOR=0.346	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1421	20	0	1	0
chr12	39764776	39764776	G	C	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528G:p.L510V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.374	B	0.326	B	0.000	D	1.000	D	0.86	L	-0.89	T	-0.602	T	0.322	T	0.754	2.842	15.47	5.39	2.533	4.151	19.172	0.252	0.0443433292116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.747e-06	0.0002	4.1e-06	1.38e-06	3.612e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.462	0.12526	T	0.374	0.34192	B	0.326	0.41929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.89	0.74793	T	-0.46	0.14978	N	0.564	0.58798	-0.6019	0.64739	T	0.322	0.69134	T	10	0.51726407	0.62438	D	0.044343	0.61442	D	0.252	0.56159	0.421	0.46365	0.695003275107	0.69237	0.8554796860303294	0.85510	0.415926434887	0.42235	0.617287814617	0.55346	T	0.14097	0.47579	T	0.161933	0.70380	D	-0.00517021	0.70000	D	0.952465236186981	0.63797	D	0.912409	0.68863	D	0.25600496	0.48637	0.19588253	0.43288	0.25600496	0.48637	0.19588253	0.43287	-8.267	0.62875	D	.	.	0.147	0.32493	B	.	.	3.372480	0.46612	22.3	0.9975783521054008	0.84772	0.94008	0.59836	D	AEFCI	0.740830	0.68496	D	0.145500679544335	0.48600	3.070197	0.293165215121814	0.55141	3.677321	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4412	2610.12	56	chr12	39764776	.	G	C,A	2610.12	.	AC=14,1;AF=0.412,0.029;AN=34;BaseQRankSum=-6.850e-01;DP=1247;ExcessHet=23.1855;FS=336.411;InbreedingCoeff=-0.6462;MLEAC=16,1;MLEAF=0.471,0.029;MQ=60.00;MQRankSum=0.00;QD=2.73;ReadPosRankSum=0.591;SOR=12.071	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:16,0,0:16:0:.:.:0,0,63,0,63,63	2	0	14	4
chr12	39764776	39764776	G	A	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528T:p.L510F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.722	P	0.519	P	0.000	D	1.000	D	1.98	M	-0.99	T	-0.129	T	0.446	T	0.785	3.086	16.31	5.39	2.533	4.151	19.172	0.489	0.0629985215375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	0.18956	T	0.227	0.25362	T	0.722	0.42387	P	0.519	0.48163	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.99	0.75911	T	-1.75	0.41428	N	0.71	0.71321	-0.1290	0.79425	T	0.446	0.78221	T	10	0.69258845	0.71947	D	0.062999	0.68831	D	0.489	0.77656	0.527	0.63263	0.644369250691	0.64143	0.8989563015606465	0.89867	0.486330154237	0.47495	0.655019402504	0.60698	T	0.25826	0.62940	T	0.186182	0.72612	D	0.0296617	0.72257	D	0.980596303939819	0.73444	D	0.89551	0.63622	D	0.35904205	0.57762	0.30843896	0.56862	0.35904205	0.57763	0.30843896	0.56861	-11.185	0.80663	D	.	.	0.171	0.37633	B	.	.	4.277361	0.65129	24.8	0.99608861495682466	0.74694	0.91321	0.53298	D	AEFCI	0.719950	0.67067	D	0.487429499125516	0.66355	4.939395	0.535340465806759	0.70385	5.49735	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4412	2610.12	56	chr12	39764776	.	G	C,A	2610.12	.	AC=14,1;AF=0.412,0.029;AN=34;BaseQRankSum=-6.850e-01;DP=1247;ExcessHet=23.1855;FS=336.411;InbreedingCoeff=-0.6462;MLEAC=16,1;MLEAF=0.471,0.029;MQ=60.00;MQRankSum=0.00;QD=2.73;ReadPosRankSum=0.591;SOR=12.071	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:16,0,0:16:0:.:.:0,0,63,0,63,63	2	0	14	4
chr12	39764778	39764778	G	A	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1526T:p.A509V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.014	B	0.05	B	0.000	D	1.000	D	0.75	N	-1.01	T	-0.745	T	0.273	T	0.19	2.602	14.66	4.49	2.533	5.695	14.373	0.203	0.0177069271949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	0	1.377e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	6.581e-06	6.566e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.309	0.14064	T	0.311	0.19660	T	0.014	0.16867	B	0.05	0.25278	B	0.000013	0.62929	D	0.113054	0.999713	0.48481	D	.	.	.	-1.01	0.76168	T	-0.31	0.12099	N	0.257	0.29081	-0.7453	0.58180	T	0.273	0.64443	T	10	0.21655372	0.38241	T	0.017707	0.39515	T	0.203	0.48915	0.697	0.83406	0.151262610727	0.14761	0.7928660009766968	0.79239	0.224749101013	0.25008	0.54022371769	0.44477	T	0.147497	0.48561	T	-0.0588532	0.43086	T	-0.322315	0.42320	T	0.95820426940918	0.65209	D	0.889111	0.62070	D	0.12108061	0.28480	0.15200104	0.35782	0.12108061	0.28480	0.15200104	0.35781	-8.403	0.63785	D	.	.	0.247	0.48135	B	.	.	3.158678	0.42787	21.6	0.72433600078509297	0.09972	0.85720	0.44884	D	AEFCI	0.561062	0.56921	D	-0.0694159268393656	0.38738	2.273609	0.136951197838408	0.46454	2.891159	0.361488548204108	0.19782	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	4.49	0.54177	5.774000	0.68561	9.659000	0.81190	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0721:0.0:0.9279:0.0	14.373	0.66419	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1875	835.24	35	chr12	39764778	.	G	A	835.24	.	AC=6;AF=0.188;AN=32;BaseQRankSum=-2.930e+00;DP=1096;ExcessHet=1.7912;FS=200.882;InbreedingCoeff=-0.2409;MLEAC=5;MLEAF=0.156;MQ=60.00;MQRankSum=0.00;QD=2.54;ReadPosRankSum=0.399;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:60:.:.:0,60,785	10	0	6	5
chr12	40367664	40367664	G	A	exonic	LRRK2	.	nonsynonymous SNV	LRRK2:NM_198578:exon51:c.G7483A:p.V2495I,	.	.	30	1485	7	0	0	7	0.00235136	.	.	324728	not_provided|Autosomal_dominant_Parkinson_disease_8	MedGen:C3661900|MONDO:MONDO:0011764,MedGen:C1846862,OMIM:607060,Orphanet:411602	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.103	B	0.027	B	0.000	N	1.000	N	0.885	L	1.32	T	-1.052	T	0.056	T	0.283	2.042	12.79	1.26	-0.044	1.541	9.044	0.022	0.00343320907525	0.0002	0.000798722	0.0012	0	0.0004	0	0	0.0001	0	0.0080	0.0009573	148	154602	rs150062967	0.0006	0.0006	0.0004	0.0008	0.0082	0.0006	0.0006	0.0077	0.0075	0.0001	4.559e-05	0	2.549e-05	1.885e-05	0.0021	0.0001	0.0008	0.0082	0.0003	0.0003	0.0002	0.0004	0.0060	0.0002	0.0002	0.0043	0.0037	0.0002	0	0	0	0	0	0	0.0001	0.0005	0.0060	0.183	0.21718	T	0.238	0.24549	T	0.103	0.25884	B	0.027	0.21085	B	0.000201	0.47681	N	0.180568	0.97367	0.25534	N	0.71	0.18616	N	1.32	0.35219	T	-0.31	0.12099	N	0.105	0.08925	-1.0521	0.13818	T	0.056	0.23527	T	10	0.008224636	0.00187	T	0.003433	0.07725	T	0.022	0.04323	.	.	0.685966507736	0.68328	0.3195491980259057	0.31867	0.161546350324	0.18234	0.259788602591	0.04865	T	0.138615	0.47220	T	-0.51548	0.00467	T	-0.507113	0.21612	T	0.020248652370605	0.00725	T	0.729327	0.34443	T	0.09870768	0.23286	0.096570276	0.22951	0.09870768	0.23286	0.096570276	0.22950	-3.711	0.19481	T	0.2327476567871969	0.31503	0.067	0.02370	B	.	.	1.900903	0.24143	16.29	0.91485720313398411	0.20758	0.76231	0.37372	D	AEFI	0.190411	0.31764	N	-0.546262754479384	0.20601	1.087204	-0.409894505019044	0.24706	1.354478	0.00390683138488209	0.10332	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.3	1.26	0.20534	1.717000	0.37612	1.052000	0.23646	-0.135000	0.12811	1.000000	0.71638	0.999000	0.35428	0.993000	0.69303	0.3094:0.0:0.6906:0.0	9.044	0.35496	788	0.46569	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.04762	1636.11	33	chr12	40367664	.	G	A	1636.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.60;DP=818;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.86;ReadPosRankSum=0.932;SOR=0.658	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	19	0	2	0
chr12	40436621	40436621	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	D	4.18	H	.	.	0.350	D	0.467	T	0.576	4.486	24.0	5.95	2.827	8.360	19.174	0.696	.	.	0.00599042	0.0013	0.0174	0	0	0	0.0004	0	0.0002	0.0004657	72	154602	rs76506766	0.0007	0.0006	0.0008	0.0007	0.0157	0.0007	0.0007	0.0144	0.0138	0.0157	0.0020	0.0001	0	0.0001	0.0055	0.0003	0.0017	0.0001	0.0048	0.0048	0.0050	0.0047	0.0151	0.0046	0.0044	0.0141	0.0137	0.0151	0	0.0052	0	0	9.43e-05	0	0.0003	0.0033	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2560.08	33	chr12	40436621	.	G	A	2560.08	.	AC=2;AF=0.048;AN=42;DP=777;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.48;SOR=1.206	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1441	20	1	0	0
chr12	40443455	40443459	TGGAA	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1198970558	1.483e-05	1.163e-05	1.197e-05	1.78e-05	0.0009	9.03e-06	7.39e-06	0.0003	0.0002	0.0003	0	0	0	0	0.0009	1.088e-06	4.832e-05	2.677e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5357.05	34	chr12	40443454	.	CTGGAA	C	5357.05	.	AC=2;AF=0.048;AN=42;DP=920;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=26.79;SOR=1.857	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	20	1	0	0
chr12	40444476	40444476	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	434	1082	6	0	0	6	0.00276498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	.	.	1.000	D	2.335	M	.	.	-0.182	T	0.400	T	0.248	4.397	23.3	4.67	2.539	9.267	17.212	0.376	.	.	0.00419329	0.0076	0	0.0068	0	0	0	0	0.0165	0.0010543	163	154602	rs532050552	0.0011	0.0009	0.0006	0.0017	0.0164	0.0011	0.0011	0.0157	0.0154	0.0001	7.074e-05	0	0	0	0.0014	7.601e-06	0.0013	0.0164	0.0006	0.0006	0.0004	0.0008	0.0174	0.0005	0.0004	0.0144	0.0133	2.405e-05	0	0	0	0.0002	0	0.0034	0	0	0.0174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1748.98	44	chr12	40444476	.	G	A	1748.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.076e+00;DP=957;ExcessHet=0.0000;FS=5.275;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=-5.190e-01;SOR=0.386	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,111,1665	20	0	1	0
chr12	40479617	40479617	C	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	565	948	9	0	0	9	0.00472441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0638185984586	.	0.000798722	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs193276049	9.362e-05	6.156e-05	9.367e-05	9.357e-05	0.0018	7.619e-05	7.046e-05	0.0013	0.0011	0	0	0	0	0	0.0006	5.381e-05	0.0002	0.0018	0.0002	0.0002	0.0002	0.0002	0.0029	0.0001	0.0001	0.0018	0.0014	7.225e-05	0	0	0	0	0	0.0034	0.0001	0	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	13745.11	328	chr12	40479617	.	C	A	13745.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.49;DP=8363;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.11;ReadPosRankSum=-1.049e+00;SOR=0.638	GT:AD:DP:GQ:PL	0/0:513,0:513:99:0,120,1800	19	0	2	0
chr12	40480071	40480071	A	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs561044025	3.961e-05	3.01e-05	5.129e-05	2.599e-05	0.0055	2.824e-05	2.484e-05	0.0037	0.0031	0	0	0	0.0055	0	0	0	0.0005	0	0.0002	0.0002	0.0002	0.0001	0.0048	0.0001	0.0001	0.0034	0.0029	0	0	6.545e-05	0	0.0048	9.416e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4332.98	328	chr12	40480071	.	A	T	4332.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.780;DP=6755;ExcessHet=0.0000;FS=11.181;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=-5.950e-01;SOR=1.026	GT:AD:DP:GQ:PL	0/0:356,0:356:99:0,120,1800	20	0	1	0
chr12	40482890	40482890	T	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	33722.39	1039	chr12	40482890	.	T	A,*	33722.39	.	AC=5,6;AF=0.208,0.250;AN=24;BaseQRankSum=0.827;DP=22349;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.5849;MLEAC=7,8;MLEAF=0.292,0.333;MQ=57.60;MQRankSum=-2.364e+01;QD=2.90;ReadPosRankSum=3.73;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:619,0,330:949:99:.:.:11452,13314,37529,0,24215,23164	1	0	5	9
chr12	40482935	40483114	GACCATCAGCTGGAGTGACAAGGACAACTGGACTGTCAGCTGGAGAGACAGGGACAACTGGACTATCACCTGGAGTGACAAGGACAACAAGATCATCAGCTGGGCTAACAGGGAAAACAGGACTATCAGCTGGGGTGACAGGGAAAACTGGACTGTCAGCTGAAGTGACAGGGACAACTA	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	.	.	.	0	.	.	.	.	.	.	0	3.429e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	3.301e-05	0.0021	0	6.755e-05	0.0003	1.265e-05	8.01e-06	8.914e-05	5.411e-05	0	0	0.0003	0	0	9.482e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	873.05	1036	chr12	40482934	.	GGACCATCAGCTGGAGTGACAAGGACAACTGGACTGTCAGCTGGAGAGACAGGGACAACTGGACTATCACCTGGAGTGACAAGGACAACAAGATCATCAGCTGGGCTAACAGGGAAAACAGGACTATCAGCTGGGGTGACAGGGAAAACTGGACTGTCAGCTGAAGTGACAGGGACAACTA	G	873.05	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.079;DP=20870;ExcessHet=0.0000;FS=2.252;InbreedingCoeff=-0.0633;MLEAC=1;MLEAF=0.028;MQ=59.10;MQRankSum=-3.357e+01;QD=0.42;ReadPosRankSum=-7.735e+00;SOR=1.006	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:870,0:870:99:.:.:0,120,1800	17	0	1	3
chr12	40482938	40482938	C	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	12831.45	1036	chr12	40482938	.	C	T,*	12831.45	.	AC=5,1;AF=0.156,0.031;AN=32;BaseQRankSum=1.18;DP=20058;ExcessHet=1.7912;FS=0.805;InbreedingCoeff=-0.2537;MLEAC=6,1;MLEAF=0.188,0.031;MQ=58.43;MQRankSum=-2.514e+01;QD=1.97;ReadPosRankSum=-3.109e+00;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:870,0,0:870:99:.:.:0,120,1800,120,1800,1800	10	0	5	5
chr12	40482955	40482955	A	0	exonic	MUC19	.	.	.	.	.	0	184	40	0	2	42	0.0980392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	8116.75	1036	chr12	40482955	.	A	G,*	8116.75	.	AC=4,1;AF=0.133,0.033;AN=30;BaseQRankSum=1.89;DP=20287;ExcessHet=1.1607;FS=1.921;InbreedingCoeff=-0.2353;MLEAC=5,1;MLEAF=0.167,0.033;MQ=58.54;MQRankSum=-2.480e+01;QD=1.41;ReadPosRankSum=-6.790e+00;SOR=0.820	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:870,0,0:870:99:.:.:0,120,1800,120,1800,1800	10	0	4	6
chr12	40482969	40482969	G	0	exonic	MUC19	.	.	.	.	.	574	886	55	0	7	62	0.030104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	7015.48	1036	chr12	40482969	.	G	A,*	7015.48	.	AC=1,1;AF=0.033,0.033;AN=30;BaseQRankSum=4.01;DP=19695;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.1355;MLEAC=1,1;MLEAF=0.033,0.033;MQ=57.84;MQRankSum=-2.493e+01;QD=3.11;ReadPosRankSum=-6.896e+00;SOR=0.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:870,0,0:870:99:.:.:0,120,1800,120,1800,1800	13	0	1	6
chr12	40482976	40482983	GGAGAGAC	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	5218.48	1036	chr12	40482975	.	TGGAGAGAC	T	5218.48	.	AC=1;AF=0.029;AN=34;BaseQRankSum=3.28;DP=19409;ExcessHet=0.0000;FS=8.092;InbreedingCoeff=-0.0769;MLEAC=1;MLEAF=0.029;MQ=57.79;MQRankSum=-2.882e+01;QD=3.95;ReadPosRankSum=-1.138e+01;SOR=1.647	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:870,0:870:99:.:.:0,120,1800	16	0	1	4
chr12	40482986	40482986	-	GT	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	241.11	1036	chr12	40482986	.	G	GGT,*	241.11	.	AC=1,1;AF=0.028,0.028;AN=36;BaseQRankSum=5.40;DP=19249;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0909;MLEAC=1,1;MLEAF=0.028,0.028;MQ=58.21;MQRankSum=-2.735e+01;QD=0.10;ReadPosRankSum=-8.651e+00;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:870,0,0:870:99:.:.:0,120,1800,120,1800,1800	16	0	1	3
chr12	40482986	40482986	G	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	241.11	1036	chr12	40482986	.	G	GGT,*	241.11	.	AC=1,1;AF=0.028,0.028;AN=36;BaseQRankSum=5.40;DP=19249;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0909;MLEAC=1,1;MLEAF=0.028,0.028;MQ=58.21;MQRankSum=-2.735e+01;QD=0.10;ReadPosRankSum=-8.651e+00;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:870,0,0:870:99:.:.:0,120,1800,120,1800,1800	16	0	1	3
chr12	40482991	40482994	ACTG	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1611.11	1036	chr12	40482990	.	AACTG	A,*	1611.11	.	AC=1,1;AF=0.028,0.028;AN=36;BaseQRankSum=9.31;DP=19232;ExcessHet=0.1072;FS=0.939;InbreedingCoeff=-0.0909;MLEAC=1,1;MLEAF=0.028,0.028;MQ=58.56;MQRankSum=-2.870e+01;QD=0.69;ReadPosRankSum=-8.296e+00;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:870,0,0:870:99:.:.:0,120,1800,120,1800,1800	16	0	1	3
chr12	40482990	40482994	AACTG	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1611.11	1036	chr12	40482990	.	AACTG	A,*	1611.11	.	AC=1,1;AF=0.028,0.028;AN=36;BaseQRankSum=9.31;DP=19232;ExcessHet=0.1072;FS=0.939;InbreedingCoeff=-0.0909;MLEAC=1,1;MLEAF=0.028,0.028;MQ=58.56;MQRankSum=-2.870e+01;QD=0.69;ReadPosRankSum=-8.296e+00;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:870,0,0:870:99:.:.:0,120,1800,120,1800,1800	16	0	1	3
chr12	40482997	40483006	CTATCACCTG	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1147.11	1036	chr12	40482996	.	ACTATCACCTG	A,*	1147.11	.	AC=1,1;AF=0.028,0.028;AN=36;BaseQRankSum=10.49;DP=19149;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0909;MLEAC=1,1;MLEAF=0.028,0.028;MQ=58.62;MQRankSum=-2.957e+01;QD=0.51;ReadPosRankSum=-8.542e+00;SOR=0.826	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:870,0,0:870:99:.:.:0,120,1800,120,1800,1800	16	0	1	3
chr12	40482996	40483006	ACTATCACCTG	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1147.11	1036	chr12	40482996	.	ACTATCACCTG	A,*	1147.11	.	AC=1,1;AF=0.028,0.028;AN=36;BaseQRankSum=10.49;DP=19149;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0909;MLEAC=1,1;MLEAF=0.028,0.028;MQ=58.62;MQRankSum=-2.957e+01;QD=0.51;ReadPosRankSum=-8.542e+00;SOR=0.826	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:870,0,0:870:99:.:.:0,120,1800,120,1800,1800	16	0	1	3
chr12	40483011	40483050	GACAAGGACAACAAGATCATCAGCTGGGCTAACAGGGAAA	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	284.97	1036	chr12	40483010	.	TGACAAGGACAACAAGATCATCAGCTGGGCTAACAGGGAAA	T	284.97	.	AC=1;AF=0.031;AN=32;BaseQRankSum=4.33;DP=19262;ExcessHet=0.0000;FS=15.362;InbreedingCoeff=-0.0909;MLEAC=1;MLEAF=0.031;MQ=58.83;MQRankSum=-3.365e+01;QD=0.21;ReadPosRankSum=-7.785e+00;SOR=4.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:870,0:870:99:.:.:0,120,1800	15	0	1	5
chr12	40483015	40483015	A	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	481509.55	1118	chr12	40483015	.	A	G,*	481509.55	.	AC=32,2;AF=0.762,0.048;AN=42;BaseQRankSum=-3.082e+00;DP=19979;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=32,2;MLEAF=0.762,0.048;MQ=59.68;MQRankSum=0.00;QD=26.76;ReadPosRankSum=0.264;SOR=0.666	GT:AD:DP:GQ:PL	1/1:0,900,0:900:99:29986,2702,0,29986,2702,29986	1	12	6	0
chr12	40483053	40483053	A	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	982.58	934	chr12	40483053	.	A	*,T	982.58	.	AC=1,1;AF=0.029,0.029;AN=34;BaseQRankSum=1.58;DP=18262;ExcessHet=0.1072;FS=0.764;InbreedingCoeff=-0.1053;MLEAC=1,1;MLEAF=0.029,0.029;MQ=58.64;MQRankSum=-1.637e+01;QD=0.45;ReadPosRankSum=-1.192e+01;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:870,0,0:870:99:.:.:0,120,1800,120,1800,1800	15	0	1	4
chr12	40483053	40483053	A	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00279553	0	0	.	.	.	0	.	.	0.0007684	20	26028	rs111971648	0.0002	0.0001	0.0003	0.0002	0.0103	0.0002	0.0002	0.0090	0.0085	0.0103	0	0	0	0	0	9.282e-06	0.0009	0	0.0028	0.0029	0.0029	0.0027	0.0098	0.0026	0.0025	0.0090	0.0087	0.0098	0	0.0011	0	0	0	0	0	0.0024	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05882	982.58	934	chr12	40483053	.	A	*,T	982.58	.	AC=1,1;AF=0.029,0.029;AN=34;BaseQRankSum=1.58;DP=18262;ExcessHet=0.1072;FS=0.764;InbreedingCoeff=-0.1053;MLEAC=1,1;MLEAF=0.029,0.029;MQ=58.64;MQRankSum=-1.637e+01;QD=0.45;ReadPosRankSum=-1.192e+01;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:870,0,0:870:99:.:.:0,120,1800,120,1800,1800	15	0	1	4
chr12	40483068	40483068	G	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	356058.34	934	chr12	40483068	.	G	A,*	356058.34	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=2.01;DP=18690;ExcessHet=0.1361;FS=0.637;InbreedingCoeff=0.2741;MLEAC=26,1;MLEAF=0.619,0.024;MQ=59.71;MQRankSum=0.00;QD=24.52;ReadPosRankSum=0.509;SOR=0.620	GT:AD:DP:GQ:PL	0/1:430,464,0:894:99:13061,0,11593,14351,12986,27337	4	9	7	0
chr12	40483097	40483127	AAGTGACAGGGACAACTAGACTATCAGCTGG	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1389	53348.35	934	chr12	40483097	.	AAGTGACAGGGACAACTAGACTATCAGCTGG	*,A	53348.35	.	AC=1,4;AF=0.028,0.111;AN=36;BaseQRankSum=3.48;DP=17275;ExcessHet=0.0409;FS=0.000;InbreedingCoeff=0.1809;MLEAC=1,4;MLEAF=0.028,0.111;MQ=59.58;MQRankSum=0.00;QD=15.51;ReadPosRankSum=0.406;SOR=0.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:828,0,0:828:99:.:.:0,120,1800,120,1800,1800	14	0	1	3
chr12	40483176	40483178	AAC	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	543	923	56	0	0	56	0.0294427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1415489964	0	4.108e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0006	0.0049	0.0006	0.0007	0.0014	0.0005	0.0005	0.0009	0.0008	0.0005	0	0.0014	0.0006	0	0.0003	0	0.0007	0.0010	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1334.64	787	chr12	40483175	.	GAAC	G	1334.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=7.54;DP=15446;ExcessHet=0.3300;FS=5.275;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=59.68;MQRankSum=-1.402e+01;QD=0.58;ReadPosRankSum=-8.166e+00;SOR=1.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:828,0:828:99:.:.:0,120,1800	18	0	3	0
chr12	40483182	40483208	AGCTGGGGTTACAGGGACAACTGAACT	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	543	961	18	0	0	18	0.00927835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1244476502	0	4.106e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0043	0.0002	0.0003	0.0005	0.0002	0.0001	0.0003	0.0002	0.0002	0	0.0005	0.0003	0	0.0002	0	0.0002	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	439.94	623	chr12	40483181	.	CAGCTGGGGTTACAGGGACAACTGAACT	C	439.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=6.67;DP=15105;ExcessHet=0.0000;FS=9.405;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.56;MQRankSum=-1.646e+01;QD=0.59;ReadPosRankSum=-7.605e+00;SOR=1.863	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:828,0:828:99:.:.:0,120,1800	20	0	1	0
chr12	40483220	40483220	T	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	543	941	36	2	0	40	0.0208117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0603377376754	.	0.00439297	.	.	.	.	.	.	.	.	0.0026894	70	26028	rs144440388	0.0013	0.0008	0.0013	0.0014	0.0111	0.0013	0.0013	0.0098	0.0093	0.0003	0.0020	0.0002	0.0066	0	0.0105	0.0011	0.0033	0.0111	0.0021	0.0021	0.0016	0.0025	0.0142	0.0019	0.0018	0.0115	0.0105	0.0003	0	0.0030	0	0.0097	0	0.0068	0.0018	0.0033	0.0142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	46855.92	623	chr12	40483220	.	T	A	46855.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=4.39;DP=15070;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=59.99;MQRankSum=0.991;QD=14.59;ReadPosRankSum=0.343;SOR=0.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:418,406:824:99:0|1:40483220_T_A:14260,0,14691:40483220	17	0	4	0
chr12	40483902	40483902	C	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	547	967	8	0	0	8	0.00411946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs796546299	0.0001	0.0001	0.0001	0.0001	0.0019	9.984e-05	9.226e-05	0.0009	0.0007	0.0003	0	0	0	0	0.0019	8.137e-05	0.0003	0.0013	0.0003	0.0008	0.0003	0.0003	0.0019	0.0002	0.0002	0.0009	0.0006	0.0002	0	0.0004	0	0.0002	0	0	0.0003	0.0006	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	12945.98	618	chr12	40483902	.	C	T	12945.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=6.78;DP=13970;ExcessHet=0.0000;FS=1.105;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.42;ReadPosRankSum=0.341;SOR=0.591	GT:AD:DP:GQ:PL	0/0:749,0:749:99:0,120,1800	20	0	1	0
chr12	40484730	40484730	T	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	549	970	2	1	0	4	0.00205761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs549013865	3.843e-05	2.738e-05	4.911e-05	2.6e-05	0.0016	2.781e-05	2.379e-05	0.0012	0.0010	0	0	0	0	0	0.0006	2.627e-06	7.329e-05	0.0016	5.26e-05	5.252e-05	2.573e-05	8.067e-05	0.0017	2.558e-05	1.831e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	11938.33	1131	chr12	40484730	.	T	C	11938.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.793e+00;DP=18780;ExcessHet=0.0000;FS=0.521;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=1.45;SOR=0.691	GT:AD:DP:GQ:PL	0/0:958,0:958:99:0,120,1800	19	0	1	1
chr12	40484956	40484956	A	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	538	969	13	2	0	17	0.00869565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0613173428163	.	0.000798722	0	0	.	0	.	0	.	.	0.0008068	21	26028	rs577746929	0.0004	0.0003	0.0005	0.0004	0.0198	0.0004	0.0004	0.0144	0.0126	0.0013	0.0030	0.0031	0	0	0.0198	0.0004	0.0011	0.0002	0.0010	0.0010	0.0009	0.0011	0.0031	0.0009	0.0008	0.0024	0.0021	0.0002	0	0.0031	0.0043	0	0.0006	0.0476	0.0008	0.0028	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	10875.98	968	chr12	40484956	.	A	T	10875.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.037;DP=18037;ExcessHet=0.0000;FS=0.522;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.98;MQRankSum=0.00;QD=11.72;ReadPosRankSum=-1.418e+00;SOR=0.772	GT:AD:DP:GQ:PL	0/0:933,0:933:99:0,120,1800	20	0	1	0
chr12	40485199	40485204	AGGACT	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	546	975	1	0	0	1	0.000512558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006531	17	26028	rs1268064007	8.458e-06	0.0018	1.123e-05	5.232e-06	0.0011	3.52e-06	2.26e-06	1.24e-06	8.3e-07	6.361e-05	0.0011	0	0	0	0	5.284e-06	3.692e-05	0	4.116e-05	0.0031	2.672e-05	5.642e-05	0.0002	1.778e-05	1.17e-05	5.866e-05	3.095e-05	2.49e-05	0	0.0002	0	0	9.992e-05	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	741.07	713	chr12	40485198	.	AAGGACT	A	741.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.83;DP=15912;ExcessHet=0.1072;FS=28.910;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.56;MQRankSum=-3.034e+01;QD=0.43;ReadPosRankSum=-6.582e+00;SOR=4.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:840,0:840:99:.:.:0,120,1800	19	0	2	0
chr12	40485210	40485210	A	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	548	972	1	0	1	2	0.000514139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1237855094	3.377e-05	0.0021	3.268e-05	3.503e-05	0.0124	2.317e-05	1.958e-05	0.0065	0.0048	6.784e-05	0.0124	0	0.0003	0	0	1.181e-05	0.0002	0	0.0003	0.0043	0.0002	0.0003	0.0021	0.0002	0.0002	0.0015	0.0013	0.0001	0	0.0021	0	0	0.0001	0	5.051e-05	0.0006	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1053	3792.02	713	chr12	40485210	.	A	G,AGTGACAGGGACAACTGGACTGTCGGCTGAAGTGACAGGGACAACTGGG	3792.02	.	AC=3,1;AF=0.079,0.026;AN=38;BaseQRankSum=6.72;DP=16027;ExcessHet=0.6776;FS=25.309;InbreedingCoeff=-0.1351;MLEAC=3,1;MLEAF=0.079,0.026;MQ=57.97;MQRankSum=-2.746e+01;QD=1.12;ReadPosRankSum=-6.528e+00;SOR=3.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:840,0,0:840:99:.:.:0,120,1800,120,1800,1800	15	0	3	2
chr12	40485210	40485210	-	GTGACAGGGACAACTGGACTGTCGGCTGAAGTGACAGGGACAACTGGG	exonic	MUC19	.	unknown	UNKNOWN,	.	.	548	972	1	0	1	2	0.000514139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	3792.02	713	chr12	40485210	.	A	G,AGTGACAGGGACAACTGGACTGTCGGCTGAAGTGACAGGGACAACTGGG	3792.02	.	AC=3,1;AF=0.079,0.026;AN=38;BaseQRankSum=6.72;DP=16027;ExcessHet=0.6776;FS=25.309;InbreedingCoeff=-0.1351;MLEAC=3,1;MLEAF=0.079,0.026;MQ=57.97;MQRankSum=-2.746e+01;QD=1.12;ReadPosRankSum=-6.528e+00;SOR=3.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:840,0,0:840:99:.:.:0,120,1800,120,1800,1800	15	0	3	2
chr12	40485294	40485294	T	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.201e-06	2.053e-06	2.232e-06	0	1.314e-06	0	0	.	.	0	0	0	0	0	0	1.314e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	7979.33	684	chr12	40485294	.	T	C	7979.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=7.20;DP=16934;ExcessHet=0.0000;FS=1.106;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=58.53;MQRankSum=6.56;QD=12.93;ReadPosRankSum=-4.139e+00;SOR=0.798	GT:AD:DP:GQ:PL	0/0:948,0:948:99:0,120,1800	19	0	1	1
chr12	40485896	40485896	C	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs926758752	4.8e-06	4.652e-05	4.46e-06	5.197e-06	5.249e-06	1.12e-06	7.6e-07	1.23e-06	8.3e-07	0	0	0	0	0	0	5.249e-06	0	0	0.0003	0.0085	0.0002	0.0003	0.0019	0.0002	0.0002	0.0012	0.0010	5.788e-05	0.0014	0.0019	0	0.0013	0.0001	0	3.66e-05	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2281.11	510	chr12	40485896	.	C	T	2281.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.596e+00;DP=18940;ExcessHet=0.1072;FS=2.086;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.45;MQRankSum=-3.304e+01;QD=1.03;ReadPosRankSum=-4.379e+00;SOR=1.110	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1042,86:1128:99:0|1:40485830_A_G:475,0,43495:40485830	19	0	2	0
chr12	40485916	40485916	G	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1358597522	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.917e-05	0.0007	1.85e-05	1.987e-05	0.0003	3.18e-06	1.19e-06	.	.	0	0	0	0	0.0003	0.0002	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03846	980.62	510	chr12	40485916	.	G	T	980.62	.	AC=1;AF=0.038;AN=26;BaseQRankSum=-1.234e+00;DP=18142;ExcessHet=0.0000;FS=5.002;InbreedingCoeff=-0.1351;MLEAC=1;MLEAF=0.038;MQ=58.50;MQRankSum=-3.297e+01;QD=0.90;ReadPosRankSum=-1.081e+01;SOR=1.396	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:872,0:872:99:.:.:0,120,1800	12	0	1	8
chr12	40485937	40485966	AGTGACAGGGACAACTGGACAATCAGCTGA	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.522e-05	3.215e-05	4.238e-05	7.019e-05	0.0022	4.232e-05	3.785e-05	0.0016	0.0014	0	0	0	0	0	0	6.563e-06	0.0002	0.0022	4.62e-05	4.604e-05	6.453e-05	2.702e-05	0.0015	2.118e-05	1.532e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	10015.94	510	chr12	40485936	.	GAGTGACAGGGACAACTGGACAATCAGCTGA	G	10015.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.762;DP=16236;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.59;MQRankSum=0.00;QD=13.23;ReadPosRankSum=-1.679e+00;SOR=0.689	GT:AD:DP:GQ:PL	0/0:872,0:872:99:0,120,1800	20	0	1	0
chr12	40486087	40486087	A	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	558	957	7	0	0	7	0.00364394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1438207721	1.205e-06	0.0002	0	2.609e-06	1.316e-06	0	0	.	.	0	0	0	0	0	0	1.316e-06	0	0	0.0067	0.0083	0.0057	0.0078	0.0528	0.0064	0.0062	0.0496	0.0483	0.0020	0	0.0528	0	0.0110	0.0066	0	0.0006	0.0065	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	23855.3	510	chr12	40486087	.	A	G	23855.3	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-1.404e+00;DP=16199;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1200;MLEAC=4;MLEAF=0.100;MQ=59.05;MQRankSum=-1.733e+01;QD=5.67;ReadPosRankSum=-4.207e+00;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:872,0:872:99:.:.:0,120,1800	16	0	4	1
chr12	40486114	40486114	-	GGAGTGAC	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.781e-06	5.42e-05	0	1.387e-05	6.733e-05	0	0	.	.	0	0	6.733e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	3318.29	510	chr12	40486114	.	T	TGGAGTGAC	3318.29	.	AC=1;AF=0.025;AN=40;BaseQRankSum=5.23;DP=17014;ExcessHet=0.0000;FS=1.798;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=57.58;MQRankSum=-2.390e+01;QD=2.55;ReadPosRankSum=-1.234e+01;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:872,0:872:99:.:.:0,120,1800	19	0	1	1
chr12	40486117	40486117	-	GACAACTGGACTGTCGGCTGAA	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.375e-05	0.0002	0	4.863e-05	0.0003	0	0	.	.	0	0	0.0003	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	5595.05	510	chr12	40486117	.	G	GGACAACTGGACTGTCGGCTGAA	5595.05	.	AC=1;AF=0.028;AN=36;BaseQRankSum=1.78;DP=17131;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0633;MLEAC=1;MLEAF=0.028;MQ=57.25;MQRankSum=-2.426e+01;QD=4.14;ReadPosRankSum=-1.042e+01;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:872,0:872:99:.:.:0,120,1800	17	0	1	3
chr12	40486134	40486134	T	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	553	952	2	1	14	18	0.00209644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002651	69	26028	rs77714081	2.695e-05	9.478e-05	3.226e-05	2.079e-05	0.0010	1.563e-05	1.222e-05	1.529e-05	1.278e-05	0	0	0	0	0	0.0010	2.741e-05	0	0	0.0012	0.0071	0.0013	0.0010	0.0076	0.0009	0.0008	0.0026	0.0017	0.0007	0	0.0042	0	0.0022	0.0012	0	0.0007	0	0.0076	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02941	6508.53	807	chr12	40486134	.	T	G	6508.53	.	AC=1;AF=0.029;AN=34;BaseQRankSum=3.84;DP=17640;ExcessHet=0.0000;FS=1.510;InbreedingCoeff=-0.0769;MLEAC=1;MLEAF=0.029;MQ=56.84;MQRankSum=-2.468e+01;QD=4.51;ReadPosRankSum=3.74;SOR=0.840	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:872,0:872:99:.:.:0,120,1800	16	0	1	4
chr12	40486135	40486135	A	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	552	964	2	1	3	7	0.00207039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00146	38	26028	rs78154920	2.497e-05	5.348e-05	2.99e-05	1.925e-05	0.0009	1.448e-05	1.133e-05	1.416e-05	1.191e-05	0	0	0	0	0	0.0009	2.539e-05	0	0	0.0005	0.0012	0.0006	0.0004	0.0031	0.0003	0.0003	0.0016	0.0012	0.0002	0	0.0031	0	0.0009	0.0010	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02941	6518.53	811	chr12	40486135	.	A	G	6518.53	.	AC=1;AF=0.029;AN=34;BaseQRankSum=3.99;DP=17642;ExcessHet=0.0000;FS=1.510;InbreedingCoeff=-0.0769;MLEAC=1;MLEAF=0.029;MQ=56.82;MQRankSum=-2.461e+01;QD=4.51;ReadPosRankSum=4.16;SOR=0.836	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:872,0:872:99:.:.:0,120,1800	16	0	1	4
chr12	40486373	40486373	A	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	539	977	6	0	0	6	0.00306122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016521	43	26028	rs12820756	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0045	0.0004	0.0007	0.0010	0.0004	0.0003	0.0007	0.0006	0.0010	0	0.0009	0	0.0005	0.0009	0	0.0001	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09091	690.58	663	chr12	40486373	.	A	C	690.58	.	AC=2;AF=0.091;AN=22;BaseQRankSum=2.88;DP=19211;ExcessHet=0.1072;FS=23.712;InbreedingCoeff=-0.2000;MLEAC=3;MLEAF=0.136;MQ=58.66;MQRankSum=-2.906e+01;QD=0.37;ReadPosRankSum=-7.903e+00;SOR=3.576	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:1562,0:1562:0:.:.:0,0,41352	9	0	2	10
chr12	40486382	40486382	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	535	985	2	0	0	2	0.0010142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013063	34	26028	rs12818645	0	1.437e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0006	0.0028	0.0005	0.0006	0.0012	0.0004	0.0004	0.0008	0.0007	0.0012	0	0.0009	0	0	0.0005	0	9.407e-05	0.0009	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1154	1950.09	663	chr12	40486382	.	G	A	1950.09	.	AC=3;AF=0.115;AN=26;BaseQRankSum=1.23;DP=19353;ExcessHet=0.3300;FS=26.737;InbreedingCoeff=-0.2000;MLEAC=4;MLEAF=0.154;MQ=58.58;MQRankSum=-3.039e+01;QD=0.68;ReadPosRankSum=-7.238e+00;SOR=4.057	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:1601,0:1601:0:.:.:0,0,43630	10	0	3	8
chr12	40486392	40486392	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	536	983	3	0	0	3	0.00152362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014215	37	26028	rs1449620235	0	1.779e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0009	0.0036	0.0007	0.0010	0.0018	0.0007	0.0006	0.0011	0.0010	0.0015	0	0.0018	0.0015	0	0.0012	0	0.0002	0.0012	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1154	4295.09	663	chr12	40486392	.	G	A	4295.09	.	AC=3;AF=0.115;AN=26;BaseQRankSum=8.61;DP=19792;ExcessHet=0.3300;FS=37.643;InbreedingCoeff=-0.2000;MLEAC=4;MLEAF=0.154;MQ=58.24;MQRankSum=-3.023e+01;QD=1.50;ReadPosRankSum=-5.598e+00;SOR=4.397	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:1644,0:1644:0:.:.:0,0,41350	10	0	3	8
chr12	40486395	40486395	C	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	537	982	3	0	0	3	0.00152517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs1172464658	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0011	0.0038	0.0009	0.0012	0.0019	0.0009	0.0008	0.0013	0.0012	0.0018	0	0.0019	0.0016	0	0.0017	0	0.0003	0.0013	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1154	5288.15	663	chr12	40486395	.	C	G	5288.15	.	AC=3;AF=0.115;AN=26;BaseQRankSum=6.92;DP=20196;ExcessHet=0.3300;FS=37.606;InbreedingCoeff=-0.2011;MLEAC=4;MLEAF=0.154;MQ=58.09;MQRankSum=-3.008e+01;QD=1.84;ReadPosRankSum=-4.739e+00;SOR=4.495	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:1661,0:1661:0:.:.:0,0,41148	10	0	3	8
chr12	40486396	40486396	A	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	536	982	1	0	3	4	0.000508906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1212954565	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0010	0.0036	0.0009	0.0012	0.0018	0.0008	0.0007	0.0013	0.0011	0.0017	0	0.0018	0.0015	0	0.0015	0	0.0003	0.0011	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1154	5934.02	663	chr12	40486396	.	A	T	5934.02	.	AC=3;AF=0.115;AN=26;BaseQRankSum=1.09;DP=20207;ExcessHet=0.3300;FS=33.389;InbreedingCoeff=-0.2000;MLEAC=4;MLEAF=0.154;MQ=57.99;MQRankSum=-3.010e+01;QD=2.07;ReadPosRankSum=-4.404e+00;SOR=3.547	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:1661,0:1661:0:.:.:0,0,41148	10	0	3	8
chr12	40486405	40486405	-	CTAGGGTGACAGAGAGTACTGGACTA	exonic	MUC19	.	unknown	UNKNOWN,	.	.	561	947	5	0	9	14	0.00263296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1215974695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0062	0.0010	0.0005	0.0033	0.0005	0.0005	0.0006	0.0003	0.0007	0	0.0013	0.0017	0	0	0	0.0008	0	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	8717.76	817	chr12	40486405	.	G	A,GCTAGGGTGACAGAGAGTACTGGACTA	8717.76	.	AC=4,1;AF=0.222,0.056;AN=18;BaseQRankSum=4.98;DP=21353;ExcessHet=1.1607;FS=43.706;InbreedingCoeff=-0.3381;MLEAC=6,2;MLEAF=0.333,0.111;MQ=57.88;MQRankSum=-2.929e+01;QD=2.24;ReadPosRankSum=-4.094e+00;SOR=4.999	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:1717,0,0:1717:0:.:.:0,0,38560,0,38560,38560	4	0	4	12
chr12	40486500	40486500	C	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	1717.24	813	chr12	40486500	.	C	A,*	1717.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=0.871;DP=21584;ExcessHet=0.6776;FS=10.912;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=56.54;MQRankSum=4.74;QD=0.36;ReadPosRankSum=-4.885e+00;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1939,0,0:1939:99:.:.:0,120,1800,120,1800,1800	17	0	1	0
chr12	40486500	40486500	C	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1717.24	813	chr12	40486500	.	C	A,*	1717.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=0.871;DP=21584;ExcessHet=0.6776;FS=10.912;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=56.54;MQRankSum=4.74;QD=0.36;ReadPosRankSum=-4.885e+00;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1939,0,0:1939:99:.:.:0,120,1800,120,1800,1800	17	0	1	0
chr12	40486502	40486502	G	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.394e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	4774.24	813	chr12	40486502	.	G	T,*	4774.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=1.20;DP=21795;ExcessHet=0.6776;FS=6.160;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=59.61;MQRankSum=2.70;QD=0.89;ReadPosRankSum=-1.014e+01;SOR=1.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1939,0,0:1939:99:.:.:0,120,1800,120,1800,1800	17	0	1	0
chr12	40486502	40486502	G	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	4774.24	813	chr12	40486502	.	G	T,*	4774.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=1.20;DP=21795;ExcessHet=0.6776;FS=6.160;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=59.61;MQRankSum=2.70;QD=0.89;ReadPosRankSum=-1.014e+01;SOR=1.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1939,0,0:1939:99:.:.:0,120,1800,120,1800,1800	17	0	1	0
chr12	40486506	40486506	A	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3636	17694.52	872	chr12	40486506	.	A	C,T,*	17694.52	.	AC=1,4,3;AF=0.045,0.182,0.136;AN=22;BaseQRankSum=1.05;DP=22443;ExcessHet=3.5521;FS=7.761;InbreedingCoeff=-0.4483;MLEAC=1,6,4;MLEAF=0.045,0.273,0.182;MQ=57.77;MQRankSum=1.58;QD=2.24;ReadPosRankSum=-2.416e+00;SOR=1.006	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:1949,0,0,0:1949:0:.:.:0,0,16860,0,16860,16860,0,16860,16860,16860	3	0	1	10
chr12	40486506	40486506	A	0	exonic	MUC19	.	.	.	.	.	600	654	129	2	137	270	0.092297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3636	17694.52	872	chr12	40486506	.	A	C,T,*	17694.52	.	AC=1,4,3;AF=0.045,0.182,0.136;AN=22;BaseQRankSum=1.05;DP=22443;ExcessHet=3.5521;FS=7.761;InbreedingCoeff=-0.4483;MLEAC=1,6,4;MLEAF=0.045,0.273,0.182;MQ=57.77;MQRankSum=1.58;QD=2.24;ReadPosRankSum=-2.416e+00;SOR=1.006	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:1949,0,0,0:1949:0:.:.:0,0,16860,0,16860,16860,0,16860,16860,16860	3	0	1	10
chr12	40486507	40486507	G	0	exonic	MUC19	.	.	.	.	.	596	657	130	2	137	271	0.0925414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3636	17618.27	872	chr12	40486507	.	G	C,*	17618.27	.	AC=5,3;AF=0.227,0.136;AN=22;BaseQRankSum=2.35;DP=22462;ExcessHet=3.5521;FS=7.761;InbreedingCoeff=-0.4483;MLEAC=7,4;MLEAF=0.318,0.182;MQ=57.78;MQRankSum=1.47;QD=2.22;ReadPosRankSum=-2.460e+00;SOR=1.005	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:1949,0,0:1949:0:.:.:0,0,16860,0,16860,16860	3	0	5	10
chr12	40486514	40486514	G	0	exonic	MUC19	.	.	.	.	.	645	616	122	2	137	263	0.0927835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	22747.23	860	chr12	40486514	.	G	A,*	22747.23	.	AC=7,2;AF=0.350,0.100;AN=20;BaseQRankSum=1.88;DP=22874;ExcessHet=4.7172;FS=5.882;InbreedingCoeff=-0.5273;MLEAC=11,3;MLEAF=0.550,0.150;MQ=58.09;MQRankSum=0.489;QD=2.52;ReadPosRankSum=-6.295e+00;SOR=0.899	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:1902,0,0:1902:0:.:.:0,0,21332,0,21332,21332	1	0	7	11
chr12	40486574	40486574	G	0	exonic	MUC19	.	.	.	.	.	621	744	27	1	129	158	0.0191167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1071	12193.03	853	chr12	40486574	.	G	*,A	12193.03	.	AC=2,1;AF=0.071,0.036;AN=28;BaseQRankSum=1.14;DP=23730;ExcessHet=0.3300;FS=9.074;InbreedingCoeff=-0.1831;MLEAC=3,1;MLEAF=0.107,0.036;MQ=58.09;MQRankSum=-8.390e-01;QD=2.78;ReadPosRankSum=1.57;SOR=1.265	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:1819,0,0:1819:0:.:.:0,0,45164,0,45164,45164	11	0	2	7
chr12	40486625	40486625	G	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	537	980	5	0	0	5	0.00254453	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036576	952	26028	rs370171939	1.864e-05	0.0003	2.301e-05	1.351e-05	2.064e-05	4.96e-06	2.38e-06	5.49e-06	2.52e-06	0	0	0	0	0	0	2.064e-05	0	0	0.0012	0.0023	0.0013	0.0011	0.0068	0.0009	0.0007	0.0018	0.0010	0.0002	0	0.0030	0.0024	0.0036	0.0023	0	0.0015	0	0.0068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03333	216.45	881	chr12	40486625	.	G	C	216.45	.	AC=1;AF=0.033;AN=30;BaseQRankSum=5.83;DP=21348;ExcessHet=0.0000;FS=34.963;InbreedingCoeff=-0.1053;MLEAC=1;MLEAF=0.033;MQ=58.24;MQRankSum=-2.473e+01;QD=0.25;ReadPosRankSum=3.93;SOR=5.891	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1410,0:1410:99:.:.:0,120,1800	14	0	1	6
chr12	40486643	40486643	-	CA	exonic	MUC19	.	unknown	UNKNOWN,	.	.	521	915	2	0	84	86	0.0010917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.106e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0009	0.0001	0.0002	0.0004	0.0001	9.135e-05	0.0002	9.942e-05	8.187e-05	0	0.0004	0.0004	0	0.0003	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	573.94	896	chr12	40486643	.	C	CCA	573.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.94;DP=21128;ExcessHet=0.0000;FS=38.219;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.89;MQRankSum=-2.404e+01;QD=0.64;ReadPosRankSum=5.30;SOR=5.172	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1410,0:1410:99:.:.:0,120,1800	20	0	1	0
chr12	40486644	40486644	-	CAGGTGTAGTGACAGGGACAACTGGCCC	exonic	MUC19	.	unknown	UNKNOWN,	.	.	536	897	5	0	84	89	0.00277932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.413e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0011	0.0057	0.0009	0.0014	0.0043	0.0008	0.0006	0.0017	0.0011	0.0004	0	0.0043	0.0037	0	0.0032	0	0.0014	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	603.95	887	chr12	40486644	.	T	TCAGGTGTAGTGACAGGGACAACTGGCCC	603.95	.	AC=1;AF=0.036;AN=28;BaseQRankSum=7.35;DP=21198;ExcessHet=0.0000;FS=38.219;InbreedingCoeff=-0.1200;MLEAC=1;MLEAF=0.036;MQ=57.87;MQRankSum=-2.391e+01;QD=0.68;ReadPosRankSum=3.39;SOR=5.176	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1410,0:1410:99:.:.:0,120,1800	13	0	1	7
chr12	40486662	40486662	-	GCT	exonic	MUC19	.	unknown	UNKNOWN,	.	.	515	928	21	0	58	79	0.0111881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1352773716	0	3.421e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0009	0.0001	0.0002	0.0004	0.0001	8.378e-05	0.0002	9.863e-05	5.377e-05	0	0.0004	0.0003	0	0.0003	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1191.94	876	chr12	40486662	.	G	GGCT	1191.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=7.37;DP=21126;ExcessHet=0.0000;FS=40.589;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.31;MQRankSum=-2.383e+01;QD=1.36;ReadPosRankSum=-7.650e-01;SOR=4.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1410,0:1410:99:.:.:0,120,1800	20	0	1	0
chr12	40486663	40486663	-	CTTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	1141.95	863	chr12	40486663	.	A	ACTTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	1141.95	.	AC=1;AF=0.036;AN=28;BaseQRankSum=3.26;DP=21154;ExcessHet=0.0000;FS=40.559;InbreedingCoeff=-0.1200;MLEAC=1;MLEAF=0.036;MQ=57.33;MQRankSum=-2.356e+01;QD=1.32;ReadPosRankSum=-5.253e+00;SOR=4.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1410,0:1410:99:.:.:0,120,1800	13	0	1	7
chr12	40487030	40487030	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	632	869	15	1	5	22	0.00968661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00259585	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs570638522	0.0029	0.0017	0.0029	0.0030	0.0094	0.0028	0.0028	0.0082	0.0078	0.0002	0	0.0075	0	0	0.0051	0.0028	0.0035	0.0094	0.0020	0.0020	0.0019	0.0021	0.0068	0.0018	0.0017	0.0050	0.0044	0.0004	0	0.0016	0.0092	0.0002	0.0010	0	0.0027	0.0014	0.0068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	12462.33	862	chr12	40487030	.	G	A	12462.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-4.940e-01;DP=22079;ExcessHet=0.0000;FS=0.519;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=59.92;MQRankSum=-3.700e-02;QD=13.05;ReadPosRankSum=-9.070e-01;SOR=0.762	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1749,0:1749:99:.:.:0,120,1800	19	0	1	1
chr12	40487194	40487194	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs77457259	2.408e-06	0.0002	0	5.212e-06	0.0010	4e-07	1.5e-07	.	.	0	0.0010	0	0	0	0	1.316e-06	0	0	7.225e-06	0.0012	0	1.487e-05	1.611e-05	0	0	.	.	0	0	0	0	0	0	0	1.611e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02941	1666.53	844	chr12	40487194	.	G	A	1666.53	.	AC=1;AF=0.029;AN=34;BaseQRankSum=9.23;DP=22918;ExcessHet=0.0000;FS=3.056;InbreedingCoeff=-0.0769;MLEAC=1;MLEAF=0.029;MQ=57.32;MQRankSum=-3.054e+01;QD=1.76;ReadPosRankSum=-6.060e-01;SOR=0.933	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1757,0:1757:99:.:.:0,120,1800	16	0	1	4
chr12	40487346	40487346	A	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	540	947	31	0	4	35	0.0161039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1326292392	0	1.325e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0031	0.0003	0.0003	0.0007	0.0002	0.0002	0.0002	0.0001	0.0001	0	0.0003	0.0004	0	0.0005	0	0.0003	0.0015	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.125	5047.17	783	chr12	40487346	.	A	T	5047.17	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-1.800e-01;DP=23076;ExcessHet=1.1607;FS=22.206;InbreedingCoeff=-0.1507;MLEAC=5;MLEAF=0.125;MQ=56.88;MQRankSum=-2.407e+01;QD=0.77;ReadPosRankSum=2.86;SOR=3.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1495,167:1666:99:.:.:2401,0,63638	15	0	5	1
chr12	40487347	40487347	G	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	538	950	30	0	4	34	0.015544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206361857	0	1.395e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0025	0.0002	0.0002	0.0005	0.0001	0.0001	0.0001	8.09e-05	0.0001	0	0.0002	0.0003	0	0.0003	0	0.0002	0.0011	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	3734.3	783	chr12	40487347	.	G	C	3734.3	.	AC=4;AF=0.100;AN=40;BaseQRankSum=1.57;DP=22988;ExcessHet=0.6776;FS=25.637;InbreedingCoeff=-0.1200;MLEAC=4;MLEAF=0.100;MQ=56.93;MQRankSum=-2.135e+01;QD=0.76;ReadPosRankSum=3.46;SOR=3.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1532,169:1703:99:0|1:40487326_C_A:2485,0,63752:40487326	16	0	4	1
chr12	40487354	40487354	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	544	938	36	0	4	40	0.0188285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1265246174	0	6.857e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0041	0.0004	0.0004	0.0009	0.0003	0.0003	0.0002	0.0002	0.0003	0	0.0005	0.0005	0	0.0007	0	0.0004	0.0027	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1579	6434.31	783	chr12	40487354	.	G	A	6434.31	.	AC=6;AF=0.158;AN=38;BaseQRankSum=6.93;DP=23251;ExcessHet=1.7912;FS=22.206;InbreedingCoeff=-0.2000;MLEAC=6;MLEAF=0.158;MQ=56.97;MQRankSum=-2.438e+01;QD=0.84;ReadPosRankSum=5.99;SOR=3.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1557,180:1737:99:0|1:40487326_C_A:2871,0,64836:40487326	13	0	6	2
chr12	40487370	40487370	C	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	530	937	55	0	0	55	0.0285122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1434790702	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0028	0.0002	0.0002	0.0003	0.0001	0.0001	9.092e-05	6.022e-05	0.0001	0	0.0003	0.0003	0	0.0002	0	0.0001	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07895	6137.83	783	chr12	40487370	.	C	G	6137.83	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.891e+00;DP=22823;ExcessHet=0.3300;FS=24.447;InbreedingCoeff=-0.1053;MLEAC=3;MLEAF=0.079;MQ=57.01;MQRankSum=-2.595e+01;QD=1.57;ReadPosRankSum=5.16;SOR=3.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1545,209:1754:99:0|1:40487326_C_A:4125,0,64245:40487326	16	0	3	2
chr12	40487373	40487373	A	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	536	929	57	0	0	57	0.029765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1199349600	0	5.474e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0029	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	8.547e-05	0.0001	0	0.0003	0.0003	0.0002	0.0002	0	0.0002	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07895	6585.83	783	chr12	40487373	.	A	G	6585.83	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.50;DP=22766;ExcessHet=0.3300;FS=24.447;InbreedingCoeff=-0.1053;MLEAC=3;MLEAF=0.079;MQ=56.97;MQRankSum=-2.636e+01;QD=1.69;ReadPosRankSum=4.60;SOR=3.313	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1536,214:1750:99:0|1:40487326_C_A:4362,0,63852:40487326	16	0	3	2
chr12	40487375	40487375	G	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	533	933	56	0	0	56	0.0291363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362941780	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0029	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	7.934e-05	0.0001	0	0.0003	0.0003	0.0002	0.0002	0	0.0002	0.0019	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07895	7211.83	783	chr12	40487375	.	G	C	7211.83	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.357e+00;DP=22744;ExcessHet=0.3300;FS=24.462;InbreedingCoeff=-0.1053;MLEAC=3;MLEAF=0.079;MQ=56.88;MQRankSum=-2.661e+01;QD=1.86;ReadPosRankSum=4.55;SOR=3.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1529,223:1752:99:0|1:40487326_C_A:4761,0,63531:40487326	16	0	3	2
chr12	40487377	40487377	C	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	537	927	58	0	0	58	0.0303347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1471742152	0	3.832e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0031	0.0002	0.0002	0.0005	0.0002	0.0001	0.0002	0.0001	0.0001	0	0.0004	0.0003	0.0002	0.0002	0	0.0002	0.0020	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07895	7556.83	783	chr12	40487377	.	C	G	7556.83	.	AC=3;AF=0.079;AN=38;BaseQRankSum=4.58;DP=22964;ExcessHet=0.3300;FS=22.540;InbreedingCoeff=-0.1053;MLEAC=3;MLEAF=0.079;MQ=56.82;MQRankSum=-2.697e+01;QD=1.95;ReadPosRankSum=3.94;SOR=2.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1524,227:1751:99:0|1:40487326_C_A:4944,0,63309:40487326	16	0	3	2
chr12	40487388	40487388	C	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	532	936	54	0	0	54	0.0280374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs552463164	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0030	0.0003	0.0002	0.0004	0.0002	0.0002	0.0002	0.0001	0.0001	0	0.0003	0.0003	0.0002	0.0002	0	0.0003	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.08333	7873.97	783	chr12	40487388	.	C	G	7873.97	.	AC=3;AF=0.083;AN=36;BaseQRankSum=1.57;DP=22906;ExcessHet=0.3300;FS=22.540;InbreedingCoeff=-0.1200;MLEAC=3;MLEAF=0.083;MQ=56.89;MQRankSum=-2.874e+01;QD=2.03;ReadPosRankSum=3.90;SOR=2.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1515,233:1748:99:0|1:40487326_C_A:5223,0,62913:40487326	15	0	3	3
chr12	40487403	40487403	G	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	531	933	58	0	0	58	0.0301455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1387815853	0	4.789e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0030	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0002	0.0001	0	0.0005	0.0003	0	0.0002	0	0.0003	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09375	11261.55	783	chr12	40487403	.	G	T	11261.55	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-7.600e+00;DP=23102;ExcessHet=0.3300;FS=12.822;InbreedingCoeff=-0.1507;MLEAC=4;MLEAF=0.125;MQ=56.51;MQRankSum=-2.985e+01;QD=2.89;ReadPosRankSum=0.192;SOR=1.942	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1494,280:1774:99:0|1:40487326_C_A:7260,0,61890:40487326	13	0	3	5
chr12	40487418	40487418	G	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	527	933	62	0	0	62	0.0321577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796103026	0	1.916e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0031	0.0005	0.0004	0.0009	0.0004	0.0004	0.0005	0.0004	0.0002	0	0.0009	0.0003	0	0.0004	0	0.0006	0.0020	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	14109.93	783	chr12	40487418	.	G	C	14109.93	.	AC=3;AF=0.100;AN=30;BaseQRankSum=-6.242e+00;DP=23264;ExcessHet=0.3300;FS=6.289;InbreedingCoeff=-0.1667;MLEAC=4;MLEAF=0.133;MQ=55.98;MQRankSum=-3.106e+01;QD=3.60;ReadPosRankSum=-4.119e+00;SOR=1.329	GT:AD:DP:GQ:PL	0/1:1460,341:1806:99:9224,0,61111	12	0	3	6
chr12	40487421	40487421	-	CCCATCAGCTGAAGTGACAGGGCTACCTGGAGTGTCAGCTGGGGTGACAGGGAC	exonic	MUC19	.	unknown	UNKNOWN,	.	.	528	938	56	0	0	56	0.0289855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0030	0.0004	0.0004	0.0007	0.0003	0.0003	0.0004	0.0003	0.0002	0	0.0007	0.0006	0	0.0003	0	0.0005	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	14575.68	783	chr12	40487421	.	G	GCCCATCAGCTGAAGTGACAGGGCTACCTGGAGTGTCAGCTGGGGTGACAGGGAC	14575.68	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-6.431e+00;DP=23203;ExcessHet=0.3300;FS=3.683;InbreedingCoeff=-0.0909;MLEAC=3;MLEAF=0.075;MQ=55.74;MQRankSum=-3.119e+01;QD=3.66;ReadPosRankSum=-5.397e+00;SOR=1.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1490,352:1842:99:0|1:40487326_C_A:9503,0,61507:40487326	17	0	3	1
chr12	40487422	40487422	-	CC	exonic	MUC19	.	unknown	UNKNOWN,	.	.	529	936	57	0	0	57	0.029549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1289899653	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0042	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	0.0001	0	0.0003	0	0.0002	0	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	722.68	783	chr12	40487422	.	A	ACC	722.68	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-6.360e-01;DP=22774;ExcessHet=0.3300;FS=7.848;InbreedingCoeff=-0.0909;MLEAC=3;MLEAF=0.075;MQ=58.23;MQRankSum=-2.943e+01;QD=0.25;ReadPosRankSum=1.76;SOR=1.957	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1444,0:1444:99:.:.:0,120,1800	17	0	3	1
chr12	40487424	40487424	-	TGG	exonic	MUC19	.	unknown	UNKNOWN,	.	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394452281	0	6.859e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.247e-05	0.0036	3.291e-05	5.266e-05	0.0003	1.641e-05	1.002e-05	6.32e-06	2.36e-06	2.999e-05	0	0	0	0.0003	0.0001	0	3.809e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	50116.39	790	chr12	40487424	.	T	TTGG,TCAGGTGTAGTGACAGGGACAACTGGCCC,C	50116.39	.	AC=6,9,1;AF=0.150,0.225,0.025;AN=40;BaseQRankSum=0.400;DP=24038;ExcessHet=20.9642;FS=1.658;InbreedingCoeff=-0.6518;MLEAC=6,9,1;MLEAF=0.150,0.225,0.025;MQ=57.01;MQRankSum=-2.483e+01;QD=4.00;ReadPosRankSum=2.51;SOR=1.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1444,0,0,0:1444:99:.:.:0,120,1800,120,1800,1800,120,1800,1800,1800	4	0	6	1
chr12	40487424	40487424	-	CAGGTGTAGTGACAGGGACAACTGGCCC	exonic	MUC19	.	unknown	UNKNOWN,	.	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.211e-06	9.603e-06	2.25e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0003	0.0073	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0002	0.0002	0	0.0005	0	0.0003	0.0005	0	0.0004	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	50116.39	790	chr12	40487424	.	T	TTGG,TCAGGTGTAGTGACAGGGACAACTGGCCC,C	50116.39	.	AC=6,9,1;AF=0.150,0.225,0.025;AN=40;BaseQRankSum=0.400;DP=24038;ExcessHet=20.9642;FS=1.658;InbreedingCoeff=-0.6518;MLEAC=6,9,1;MLEAF=0.150,0.225,0.025;MQ=57.01;MQRankSum=-2.483e+01;QD=4.00;ReadPosRankSum=2.51;SOR=1.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1444,0,0,0:1444:99:.:.:0,120,1800,120,1800,1800,120,1800,1800,1800	4	0	6	1
chr12	40487426	40487426	-	CAC	exonic	MUC19	.	unknown	UNKNOWN,	.	.	529	956	37	0	0	37	0.0189841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1212552436	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	2.641e-05	0.0013	2.582e-05	2.703e-05	4.427e-05	8.17e-06	5.16e-06	1.175e-05	6.26e-06	0	0	0	0	0	9.495e-05	0	4.427e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	2610.29	803	chr12	40487426	.	T	TCAC	2610.29	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-4.466e+00;DP=22905;ExcessHet=0.0000;FS=4.255;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=56.99;MQRankSum=-2.997e+01;QD=2.54;ReadPosRankSum=2.96;SOR=1.175	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1444,0:1444:99:.:.:0,120,1800	19	0	1	1
chr12	40487433	40487433	A	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	533	931	32	0	26	58	0.0168955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1489428232	1.207e-06	4.11e-06	2.243e-06	0	1.32e-06	0	0	.	.	0	0	0	0	0	0	1.32e-06	0	0	7.447e-05	0.0018	9.648e-05	5.114e-05	0.0001	3.796e-05	2.83e-05	4.787e-05	3.216e-05	5.844e-05	0	0	0	0	0.0001	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04167	2152.74	803	chr12	40487433	.	A	G	2152.74	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-2.655e+00;DP=22875;ExcessHet=0.0000;FS=9.445;InbreedingCoeff=-0.1648;MLEAC=2;MLEAF=0.083;MQ=57.16;MQRankSum=-2.982e+01;QD=2.09;ReadPosRankSum=2.30;SOR=1.740	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1444,0:1444:99:.:.:0,120,1800	11	0	1	9
chr12	40487442	40487442	-	GCT	exonic	MUC19	.	unknown	UNKNOWN,	.	.	529	895	98	0	0	98	0.0519068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1210301375	1.2e-06	8.209e-06	2.23e-06	0	0.0009	0	0	.	.	0	0.0009	0	0	0	0	0	0	0	0.0006	0.0058	0.0005	0.0008	0.0009	0.0005	0.0005	0.0005	0.0005	0.0004	0	0.0009	0	0.0006	0.0011	0	0.0007	0.0010	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	2114.68	803	chr12	40487442	.	G	GGCT	2114.68	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-3.626e+00;DP=23133;ExcessHet=0.3300;FS=0.986;InbreedingCoeff=-0.0909;MLEAC=3;MLEAF=0.075;MQ=57.88;MQRankSum=-2.864e+01;QD=0.75;ReadPosRankSum=0.033;SOR=0.846	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1444,0:1444:99:.:.:0,120,1800	17	0	3	1
chr12	40487443	40487443	-	CCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	exonic	MUC19	.	unknown	UNKNOWN,	.	.	536	681	142	0	163	305	0.0944149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.209e-06	8.913e-06	2.247e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0009	0.0080	0.0007	0.0011	0.0013	0.0007	0.0007	0.0007	0.0007	0.0006	0	0.0013	0	0.0009	0.0016	0	0.0010	0.0013	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	47580.64	785	chr12	40487443	.	A	G,ACCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	47580.64	.	AC=6,9;AF=0.167,0.250;AN=36;BaseQRankSum=-4.103e+00;DP=24007;ExcessHet=17.4423;FS=3.030;InbreedingCoeff=-0.6471;MLEAC=7,10;MLEAF=0.194,0.278;MQ=56.96;MQRankSum=-2.803e+01;QD=3.55;ReadPosRankSum=-2.836e+00;SOR=1.131	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1444,0,0:1444:99:.:.:0,120,1800,120,1800,1800	3	0	6	3
chr12	40488212	40488217	GGGGTG	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	573	874	75	0	0	75	0.041141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1328022944	0	4.385e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0045	0.0004	0.0005	0.0005	0.0004	0.0003	0.0003	0.0003	0.0005	0	0.0005	0.0013	0	0.0004	0	0.0004	0.0010	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1014.64	821	chr12	40488211	.	TGGGGTG	T	1014.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.168e+00;DP=14312;ExcessHet=0.3300;FS=3.578;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=58.19;MQRankSum=-2.361e+01;QD=0.32;ReadPosRankSum=-5.647e+00;SOR=1.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1344,128:1472:99:0|1:40488211_TGGGGTG_T:500,0,53757:40488211	18	0	3	0
chr12	40488214	40488214	G	0	exonic	MUC19	.	.	.	.	.	648	669	143	9	53	214	0.107405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	6754.42	821	chr12	40488214	.	G	T,*	6754.42	.	AC=4,2;AF=0.125,0.063;AN=32;BaseQRankSum=4.72;DP=14240;ExcessHet=1.8958;FS=4.372;InbreedingCoeff=-0.1785;MLEAC=5,2;MLEAF=0.156,0.063;MQ=58.50;MQRankSum=-1.232e+01;QD=1.41;ReadPosRankSum=-7.774e+00;SOR=1.191	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:1344,0,128:1472:99:0|1:40488211_TGGGGTG_T:500,4543,58692,0,54149,53757:40488211	10	0	4	5
chr12	40488219	40488242	CAGAGACAACTGGACAATCAGCTG	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	562	903	55	1	1	58	0.0305958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1486154631	0	3.663e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0040	0.0004	0.0005	0.0005	0.0003	0.0003	0.0003	0.0003	0.0005	0	0.0004	0.0013	0	0.0005	0	0.0004	0.0010	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	412.64	821	chr12	40488218	.	ACAGAGACAACTGGACAATCAGCTG	A	412.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.217e+00;DP=14189;ExcessHet=0.3300;FS=5.392;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=58.32;MQRankSum=-2.477e+01;QD=0.12;ReadPosRankSum=-6.200e+00;SOR=1.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1406,128:1534:99:0|1:40488211_TGGGGTG_T:307,0,56751:40488211	18	0	3	0
chr12	40488222	40488222	A	0	exonic	MUC19	.	.	.	.	.	668	663	143	10	38	201	0.109469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	32216.33	821	chr12	40488222	.	A	G,*	32216.33	.	AC=6,2;AF=0.188,0.063;AN=32;BaseQRankSum=0.891;DP=14011;ExcessHet=3.7745;FS=5.226;InbreedingCoeff=-0.2727;MLEAC=7,2;MLEAF=0.219,0.063;MQ=58.53;MQRankSum=-1.512e+01;QD=4.86;ReadPosRankSum=-8.904e+00;SOR=1.107	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1046,182,128:1356:99:0|1:40488222_A_*:3808,0,43091,2630,38947,47332:40488222	8	0	6	5
chr12	40488224	40488224	A	0	exonic	MUC19	.	.	.	.	.	25	95	24	1	81	107	0.12037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	211896.28	821	chr12	40488224	.	A	G,T,*	211896.28	.	AC=18,2,2;AF=0.500,0.056,0.056;AN=36;BaseQRankSum=0.772;DP=14066;ExcessHet=0.3330;FS=0.000;InbreedingCoeff=0.0926;MLEAC=20,2,2;MLEAF=0.556,0.056,0.056;MQ=59.12;MQRankSum=0.00;QD=20.60;ReadPosRankSum=1.34;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:697,521,0,128:1346:99:.:.:13240,0,20743,16341,23265,44781,12025,18821,42057,46737	3	6	5	3
chr12	40488231	40488231	G	0	exonic	MUC19	.	.	.	.	.	640	765	79	12	26	129	0.0630741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	25357.79	821	chr12	40488231	.	G	*,T	25357.79	.	AC=2,6;AF=0.056,0.167;AN=36;BaseQRankSum=0.517;DP=13285;ExcessHet=3.7745;FS=5.683;InbreedingCoeff=-0.2250;MLEAC=2,7;MLEAF=0.056,0.194;MQ=58.57;MQRankSum=-1.600e+01;QD=3.94;ReadPosRankSum=-8.076e+00;SOR=1.218	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:1056,128,148:1332:99:0|1:40488222_A_*:2847,1520,45519,0,39438,43789:40488222	10	0	2	3
chr12	40488234	40488234	A	0	exonic	MUC19	.	.	.	.	.	655	769	59	13	26	111	0.0523722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	21813.94	821	chr12	40488234	.	A	T,*	21813.94	.	AC=5,2;AF=0.139,0.056;AN=36;BaseQRankSum=3.22;DP=13121;ExcessHet=2.7391;FS=7.380;InbreedingCoeff=-0.1784;MLEAC=6,2;MLEAF=0.167,0.056;MQ=58.57;MQRankSum=-1.943e+01;QD=3.85;ReadPosRankSum=-8.512e+00;SOR=1.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1036,132,128:1296:99:0|1:40488222_A_*:2368,0,43017,974,38632,44204:40488222	11	0	5	3
chr12	40488244	40488244	G	0	exonic	MUC19	.	.	.	.	.	0	221	4	0	1	5	0.00896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	13676.28	821	chr12	40488244	.	G	A,*	13676.28	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=9.41;DP=12099;ExcessHet=1.1607;FS=4.938;InbreedingCoeff=-0.1351;MLEAC=4,1;MLEAF=0.095,0.024;MQ=58.35;MQRankSum=-1.233e+01;QD=3.77;ReadPosRankSum=-8.872e+00;SOR=1.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1156,101,0:1257:99:.:.:664,0,39976,4138,40280,44418	16	0	4	0
chr12	40488250	40488250	A	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	590	918	12	0	2	14	0.00649351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1458586940	2.996e-05	0.0004	2.53e-05	3.537e-05	0.0125	1.96e-05	1.674e-05	0.0068	0.0052	0	0.0125	0	0.0009	0	0	5.951e-06	0.0001	0.0002	0.0039	0.0090	0.0031	0.0047	0.0330	0.0036	0.0035	0.0303	0.0292	0.0009	0	0.0330	0	0.0033	0.0043	0	0.0002	0.0051	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	9287.95	821	chr12	40488250	.	A	T,*	9287.95	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=2.25;DP=11746;ExcessHet=0.6776;FS=13.100;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=58.29;MQRankSum=-1.105e+01;QD=4.09;ReadPosRankSum=-8.702e+00;SOR=1.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1054,0,0:1054:99:.:.:0,120,1800,120,1800,1800	17	0	3	0
chr12	40488250	40488250	A	0	exonic	MUC19	.	.	.	.	.	0	222	3	0	1	4	0.00671141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	9287.95	821	chr12	40488250	.	A	T,*	9287.95	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=2.25;DP=11746;ExcessHet=0.6776;FS=13.100;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=58.29;MQRankSum=-1.105e+01;QD=4.09;ReadPosRankSum=-8.702e+00;SOR=1.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1054,0,0:1054:99:.:.:0,120,1800,120,1800,1800	17	0	3	0
chr12	40488252	40488252	A	0	exonic	MUC19	.	.	.	.	.	1	222	2	0	1	3	0.0044843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	4982.98	821	chr12	40488252	.	A	G,*	4982.98	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=2.35;DP=11631;ExcessHet=0.7148;FS=49.965;InbreedingCoeff=-0.1200;MLEAC=3,1;MLEAF=0.075,0.025;MQ=58.48;MQRankSum=-8.793e+00;QD=2.32;ReadPosRankSum=-8.295e+00;SOR=4.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1054,0,0:1054:99:.:.:0,120,1800,120,1800,1800	16	0	3	1
chr12	40488255	40488255	G	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	602	913	7	0	0	7	0.00381888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1488209478	9.531e-06	0.0003	7.591e-06	1.179e-05	0.0063	3.96e-06	2.55e-06	0.0025	0.0016	0	0.0063	0	0.0003	0	0	1.488e-06	0	0	0.0031	0.0084	0.0026	0.0037	0.0275	0.0029	0.0028	0.0248	0.0238	0.0007	0	0.0275	0	0.0031	0.0031	0	0.0002	0.0034	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	3447.98	821	chr12	40488255	.	G	T,*	3447.98	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=1.94;DP=11556;ExcessHet=0.6776;FS=44.354;InbreedingCoeff=-0.1200;MLEAC=3,1;MLEAF=0.075,0.025;MQ=58.40;MQRankSum=-8.042e+00;QD=1.64;ReadPosRankSum=-7.804e+00;SOR=5.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1054,0,0:1054:99:.:.:0,120,1800,120,1800,1800	16	0	3	1
chr12	40488255	40488255	G	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3447.98	821	chr12	40488255	.	G	T,*	3447.98	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=1.94;DP=11556;ExcessHet=0.6776;FS=44.354;InbreedingCoeff=-0.1200;MLEAC=3,1;MLEAF=0.075,0.025;MQ=58.40;MQRankSum=-8.042e+00;QD=1.64;ReadPosRankSum=-7.804e+00;SOR=5.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1054,0,0:1054:99:.:.:0,120,1800,120,1800,1800	16	0	3	1
chr12	40488256	40488256	T	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3060.98	821	chr12	40488256	.	T	A,*	3060.98	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=10.51;DP=11535;ExcessHet=0.6776;FS=41.825;InbreedingCoeff=-0.1200;MLEAC=3,1;MLEAF=0.075,0.025;MQ=58.40;MQRankSum=-8.249e+00;QD=1.47;ReadPosRankSum=-7.647e+00;SOR=5.531	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1054,0,0:1054:99:.:.:0,120,1800,120,1800,1800	16	0	3	1
chr12	40488262	40488262	A	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	600	919	3	0	0	3	0.00162955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1243397229	0	7.332e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0010	0.0054	0.0009	0.0012	0.0092	0.0009	0.0008	0.0078	0.0073	0.0002	0	0.0092	0	0.0009	0.0010	0	6.866e-05	0.0011	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	1682.68	821	chr12	40488262	.	A	G	1682.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=5.90;DP=11357;ExcessHet=0.3300;FS=47.936;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=57.93;MQRankSum=-8.349e+00;QD=1.14;ReadPosRankSum=-7.960e+00;SOR=8.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1054,0:1054:99:.:.:0,120,1800	18	0	3	0
chr12	40488569	40488569	G	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	582	939	1	0	0	1	0.000532198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs543718345	5.422e-05	3.218e-05	3.778e-05	7.337e-05	0.0025	4.085e-05	3.596e-05	0.0018	0.0016	0	0	0	0	0	0	0	0.0003	0.0025	6.677e-05	5.722e-05	4.857e-05	8.612e-05	0.0030	3.266e-05	2.369e-05	0.0015	0.0011	0	0	0	0	0	0	0	0	0	0.0030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	13909.38	725	chr12	40488569	.	G	C	13909.38	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.305e+00;DP=10124;ExcessHet=0.0000;FS=0.518;InbreedingCoeff=-0.0399;MLEAC=1;MLEAF=0.025;MQ=59.82;MQRankSum=-1.424e+00;QD=19.19;ReadPosRankSum=0.503;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:874,0:874:99:.:.:0,120,1800	19	0	1	1
chr12	40488782	40488782	-	AA	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	313.29	936	chr12	40488782	.	G	GAA	313.29	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-4.126e+00;DP=19994;ExcessHet=0.0000;FS=0.986;InbreedingCoeff=0.3000;MLEAC=1;MLEAF=0.025;MQ=58.08;MQRankSum=-2.171e+01;QD=0.34;ReadPosRankSum=0.689;SOR=0.930	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:2159,0:2159:99:.:.:0,120,1800	19	0	1	1
chr12	40488783	40488783	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	705	771	16	24	6	70	0.0398506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1248728457	0	4.498e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0050	0.0003	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	0	0.0003	0	0	0.0005	0	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2	770.68	934	chr12	40488783	.	G	A,GTGACAGGGATAACTGGACTATCAGCTGTGCTGACAAGGACAACTGGGCCATCGGCTGT	770.68	.	AC=1,1;AF=0.100,0.100;AN=10;BaseQRankSum=-1.239e+00;DP=19913;ExcessHet=0.1190;FS=0.000;InbreedingCoeff=-0.1906;MLEAC=2,2;MLEAF=0.200,0.200;MQ=58.19;MQRankSum=-2.161e+01;QD=0.51;ReadPosRankSum=-7.200e-02;SOR=0.789	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:2147,0,0:2147:0:.:.:0,0,24458,0,24458,24458	3	0	1	16
chr12	40488783	40488783	-	TGACAGGGATAACTGGACTATCAGCTGTGCTGACAAGGACAACTGGGCCATCGGCTGT	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	770.68	934	chr12	40488783	.	G	A,GTGACAGGGATAACTGGACTATCAGCTGTGCTGACAAGGACAACTGGGCCATCGGCTGT	770.68	.	AC=1,1;AF=0.100,0.100;AN=10;BaseQRankSum=-1.239e+00;DP=19913;ExcessHet=0.1190;FS=0.000;InbreedingCoeff=-0.1906;MLEAC=2,2;MLEAF=0.200,0.200;MQ=58.19;MQRankSum=-2.161e+01;QD=0.51;ReadPosRankSum=-7.200e-02;SOR=0.789	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:2147,0,0:2147:0:.:.:0,0,24458,0,24458,24458	3	0	1	16
chr12	40488784	40488784	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	712	764	16	24	6	70	0.040201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs1262902283	4.642e-05	0.0005	3.617e-05	5.836e-05	5.074e-05	3.325e-05	2.897e-05	3.634e-05	3.166e-05	0	0	0	0	0	0	5.074e-05	0	0	0.0012	0.0098	0.0013	0.0011	0.0017	0.0010	0.0009	0.0012	0.0011	0.0007	0.0026	0.0011	0.0023	0.0010	0.0006	0.0116	0.0017	0.0015	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	366.69	969	chr12	40488784	.	G	A	366.69	.	AC=1;AF=0.100;AN=10;BaseQRankSum=0.320;DP=19824;ExcessHet=0.0000;FS=0.752;InbreedingCoeff=-0.1375;MLEAC=2;MLEAF=0.200;MQ=58.40;MQRankSum=-1.624e+01;QD=0.64;ReadPosRankSum=-8.258e+00;SOR=0.831	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:2147,0:2147:0:.:.:0,0,24458	4	0	1	16
chr12	40488858	40488858	C	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	573	912	7	23	7	60	0.0282365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1374519651	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0009	0.0096	0.0010	0.0008	0.0014	0.0008	0.0007	0.0009	0.0007	0.0005	0	0.0014	0.0007	0.0008	0.0028	0	0.0009	0.0006	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02941	363.7	977	chr12	40488858	.	C	A	363.7	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-3.580e-01;DP=14254;ExcessHet=0.0000;FS=3.658;InbreedingCoeff=0.0979;MLEAC=1;MLEAF=0.029;MQ=59.69;MQRankSum=-7.452e+00;QD=0.72;ReadPosRankSum=-6.786e+00;SOR=1.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1449,0:1449:99:.:.:0,120,1800	16	0	1	4
chr12	40488861	40488861	G	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	581	906	7	23	5	58	0.0284182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs1475609431	0	5.431e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0063	0.0006	0.0005	0.0008	0.0004	0.0004	0.0004	0.0003	0.0003	0	0.0008	0.0003	0.0005	0.0019	0	0.0005	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02778	72.12	977	chr12	40488861	.	G	C	72.12	.	AC=1;AF=0.028;AN=36;BaseQRankSum=3.00;DP=14208;ExcessHet=0.0000;FS=3.932;InbreedingCoeff=0.1576;MLEAC=1;MLEAF=0.028;MQ=59.69;MQRankSum=-8.176e+00;QD=0.15;ReadPosRankSum=-6.537e+00;SOR=1.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1449,0:1449:99:.:.:0,120,1800	17	0	1	3
chr12	40489087	40489087	C	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	611	871	12	28	0	68	0.0375691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1197637289	0	1.536e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0074	0.0002	0.0003	0.0004	0.0002	0.0002	0.0002	0.0001	0.0002	0	0.0004	0.0004	0	0.0004	0	0.0003	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	192.98	748	chr12	40489087	.	C	G	192.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=10813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0204;MLEAC=1;MLEAF=0.024;MQ=37.10;MQRankSum=-1.383e+00;QD=32.16;ReadPosRankSum=-5.240e-01;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:958,0:958:99:.:.:0,120,1800	20	0	1	0
chr12	40489098	40489098	T	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	624	863	11	24	0	59	0.0330532	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs186762951	0	9.509e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0021	0.0002	0.0002	0.0005	0.0001	0.0001	0.0002	0.0002	0.0002	0	0.0005	0	0	0.0003	0	7.71e-05	0.0006	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	108.98	748	chr12	40489098	.	T	C	108.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.15;DP=10811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0234;MLEAC=1;MLEAF=0.024;MQ=42.94;MQRankSum=-1.150e+00;QD=27.24;ReadPosRankSum=-1.150e+00;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:958,0:958:99:.:.:0,120,1800	20	0	1	0
chr12	40489579	40489788	TGGACTATCAACTGGGGTGACAGGGATAGCTGGACACTCAGCTGCGGTGACAGGGATAACTAGACCATCAGCTGGAGTGACAGGGACAACCACAGTATCAGCTGGAGTAACAGGGACAATTGGACTATCAGCTGAAGCAACAGGGATAACTCTACCATCAGCTGGGGTGACAGAGACAACTGGACTATCTGCTGGAGTGACAGAAACAAT	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	559	962	1	0	0	1	0.000519481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.948e-06	4.802e-06	4.602e-06	5.349e-06	5.409e-06	1.16e-06	7.8e-07	1.27e-06	8.5e-07	0	0	0	0	0	0	5.409e-06	0	0	0	3.352e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	1388.29	703	chr12	40489578	.	CTGGACTATCAACTGGGGTGACAGGGATAGCTGGACACTCAGCTGCGGTGACAGGGATAACTAGACCATCAGCTGGAGTGACAGGGACAACCACAGTATCAGCTGGAGTAACAGGGACAATTGGACTATCAGCTGAAGCAACAGGGATAACTCTACCATCAGCTGGGGTGACAGAGACAACTGGACTATCTGCTGGAGTGACAGAAACAAT	C	1388.29	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.58;DP=11681;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=44.51;MQRankSum=-5.228e+00;QD=9.92;ReadPosRankSum=-8.878e+00;SOR=0.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1084,0:1084:99:.:.:0,120,1800	19	0	1	1
chr12	40489602	40489602	G	0	exonic	MUC19	.	.	.	.	.	586	533	254	148	1	551	0.340347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	89288.66	720	chr12	40489602	.	G	A,*	89288.66	.	AC=6,1;AF=0.150,0.025;AN=40;BaseQRankSum=4.13;DP=11489;ExcessHet=2.5830;FS=0.517;InbreedingCoeff=-0.2174;MLEAC=6,1;MLEAF=0.150,0.025;MQ=58.87;MQRankSum=1.10;QD=18.58;ReadPosRankSum=3.71;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:581,462,0:1043:99:0|1:40489602_G_A:16707,0,20856,18455,22246,40701:40489602	13	0	6	1
chr12	40489992	40489992	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs573209248	1.445e-05	1.233e-05	4.473e-06	2.607e-05	0.0003	7.7e-06	6.08e-06	0.0001	7.725e-05	6.344e-05	0	0	0	0	0	0	0.0002	0.0003	3.326e-05	6.6e-05	3.902e-05	2.723e-05	0.0006	1.273e-05	8.07e-06	0.0002	8.601e-05	0	0	0	0	0.0006	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	14202.98	777	chr12	40489992	.	G	A	14202.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.60;DP=17389;ExcessHet=0.0000;FS=0.518;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.18;MQRankSum=-2.470e+00;QD=18.05;ReadPosRankSum=-8.480e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:942,0:942:99:.:.:0,120,1800	20	0	1	0
chr12	40489998	40489998	C	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs558958381	1.685e-05	1.781e-05	8.945e-06	2.606e-05	0.0006	9.78e-06	7.65e-06	0.0002	0.0001	0	0	0	0.0006	0	0	0	0.0002	0.0004	3.298e-05	6.574e-05	3.871e-05	2.698e-05	0.0006	1.264e-05	8.01e-06	0.0002	8.511e-05	0	0	0	0	0.0006	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	14144.98	777	chr12	40489998	.	C	T	14144.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.867;DP=17398;ExcessHet=0.0000;FS=0.522;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.56;MQRankSum=-2.176e+00;QD=17.91;ReadPosRankSum=-8.360e-01;SOR=0.621	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:942,0:942:99:.:.:0,120,1800	20	0	1	0
chr12	40490286	40490286	C	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	595	902	19	0	6	25	0.0104224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186244381	1.359e-06	0.0003	2.527e-06	0	6.872e-05	0	0	.	.	6.872e-05	0	0	0	0	0	0	0	0	0.0003	0.0084	0.0002	0.0003	0.0018	0.0002	0.0002	0.0011	0.0009	0.0001	0.0016	0.0018	0	0.0009	0.0001	0	4.372e-05	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.075	666.72	777	chr12	40490286	.	C	T	666.72	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-5.846e+00;DP=17211;ExcessHet=0.3300;FS=3.772;InbreedingCoeff=-0.0909;MLEAC=3;MLEAF=0.075;MQ=52.62;MQRankSum=-1.049e+01;QD=0.38;ReadPosRankSum=-1.430e-01;SOR=1.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:941,0:941:99:.:.:0,120,1800	17	0	3	1
chr12	40490287	40490287	A	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	589	899	19	0	15	34	0.0104568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1314271449	1.355e-06	0.0003	2.518e-06	0	6.852e-05	0	0	.	.	6.852e-05	0	0	0	0	0	0	0	0	0.0002	0.0076	0.0002	0.0003	0.0014	0.0002	0.0001	0.0009	0.0007	9.404e-05	0.0015	0.0014	0	0.0006	0.0001	0	5.854e-05	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.075	669.72	777	chr12	40490287	.	A	G	669.72	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-4.922e+00;DP=17206;ExcessHet=0.3300;FS=1.632;InbreedingCoeff=-0.0909;MLEAC=3;MLEAF=0.075;MQ=52.61;MQRankSum=-6.204e+00;QD=0.38;ReadPosRankSum=-2.000e-01;SOR=0.870	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:941,0:941:99:.:.:0,120,1800	17	0	3	1
chr12	40490314	40490314	A	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	563	950	6	0	3	9	0.00314795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1288006956	1.368e-06	8.01e-05	2.541e-06	0	1.497e-06	0	0	.	.	0	0	0	0	0	0	1.497e-06	0	0	0.0002	0.0076	0.0003	0.0001	0.0007	0.0001	0.0001	0.0004	0.0003	0.0002	0.0012	0.0007	0	0	0.0004	0	7.813e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	283.02	519	chr12	40490314	.	A	G	283.02	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-1.146e+00;DP=15022;ExcessHet=0.0000;FS=4.946;InbreedingCoeff=-0.0909;MLEAC=1;MLEAF=0.031;MQ=52.06;MQRankSum=-5.159e+00;QD=2.38;ReadPosRankSum=-2.327e+00;SOR=0.779	GT:AD:DP:GQ:PL	0/0:830,0:830:99:0,120,1800	15	0	1	5
chr12	40490343	40490343	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	0	221	1	0	4	5	0.00225734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1313257363	1.227e-06	0.0009	0	2.657e-06	.	0	0	.	.	0	0	0.0002	0	0	0	0	0	0	0.0010	0.0030	0.0011	0.0009	0.0016	0.0009	0.0008	0.0014	0.0013	0.0002	0.0024	0.0010	0	0	0.0011	0	0.0016	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	120.98	519	chr12	40490343	.	G	A	120.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.86;DP=13214;ExcessHet=0.0000;FS=9.114;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.93;MQRankSum=-7.225e+00;QD=1.01;ReadPosRankSum=0.532;SOR=1.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:830,0:830:99:.:.:0,120,1800	20	0	1	0
chr12	40490355	40490355	C	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1487050672	0	4.307e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.122e-05	0.0007	4.037e-05	4.211e-05	0.0002	1.78e-05	1.172e-05	5.633e-05	3.031e-05	2.469e-05	0	0.0002	0	0	0	0	0	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	127.98	519	chr12	40490355	.	C	T	127.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=13210;ExcessHet=0.0000;FS=9.028;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.70;MQRankSum=-7.960e+00;QD=1.09;ReadPosRankSum=-1.457e+00;SOR=1.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:830,0:830:99:.:.:0,120,1800	20	0	1	0
chr12	40490366	40490367	TC	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	553	944	13	1	11	26	0.00788229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1263425823	0.0002	0.0001	0.0002	0.0002	0.0037	0.0002	0.0002	0.0024	0.0021	0	0	0.0045	0	0	0.0037	7.312e-05	0.0010	0.0030	0.0005	0.0005	0.0004	0.0006	0.0025	0.0004	0.0004	0.0015	0.0011	4.867e-05	0	0.0011	0.0071	0	0	0.0035	0.0002	0.0020	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	15256.94	519	chr12	40490365	.	ATC	A	15256.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.990e-01;DP=13210;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.67;MQRankSum=-4.687e+00;QD=17.93;ReadPosRankSum=1.17;SOR=0.672	GT:AD:DP:GQ:PL	0/0:830,0:830:99:0,120,1800	20	0	1	0
chr12	40490978	40490978	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	551	935	33	1	2	37	0.0183727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00419329	.	.	.	.	.	.	.	.	0.0025742	67	26028	rs144654701	0.0014	0.0008	0.0014	0.0014	0.0116	0.0013	0.0013	0.0103	0.0097	0.0003	0.0021	0.0002	0.0067	0	0.0107	0.0011	0.0034	0.0116	0.0020	0.0020	0.0016	0.0025	0.0139	0.0018	0.0018	0.0112	0.0102	0.0003	0	0.0030	0	0.0094	0	0.0068	0.0018	0.0033	0.0139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	33680.3	582	chr12	40490978	.	G	A	33680.3	.	AC=4;AF=0.100;AN=40;BaseQRankSum=2.26;DP=13328;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1200;MLEAC=4;MLEAF=0.100;MQ=59.56;MQRankSum=-3.345e+00;QD=12.86;ReadPosRankSum=0.453;SOR=0.714	GT:AD:DP:GQ:PL	0/1:469,360:829:99:8760,0,16574	16	0	4	1
chr12	40507004	40507004	C	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	442	1064	15	1	0	17	0.00792541	.	.	2806890	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00199681	.	.	.	.	.	.	.	.	0.0015752	41	26028	rs536871012	0.0017	0.0004	0	0.0029	0.0091	0	0	.	.	0	.	.	.	0	0	0.0091	0	0	0.0013	0.0013	0.0012	0.0015	0.0077	0.0012	0.0011	0.0057	0.0050	0.0001	0	0.0026	0.0089	0	0.0008	0.0034	0.0011	0.0024	0.0077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1016.98	142	chr12	40507004	.	C	T	1016.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.49;DP=2178;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.16;ReadPosRankSum=-2.402e+00;SOR=0.664	GT:AD:DP:GQ:PL	0/0:154,0:154:99:0,120,1800	20	0	1	0
chr12	40509053	40509053	T	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	561	887	71	3	0	77	0.0415991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796340531	3.486e-05	0.0002	3.413e-05	3.563e-05	.	5.78e-06	2.16e-06	.	.	0	0	0	0	0.0004	0	0	0	0	5.923e-05	0.0006	5.149e-05	6.731e-05	0.0002	3.081e-05	2.213e-05	6.279e-05	4.297e-05	0.0001	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2222	243.92	150	chr12	40509053	.	T	A	243.92	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-5.870e-01;DP=3382;ExcessHet=0.6776;FS=1.041;InbreedingCoeff=-0.3078;MLEAC=6;MLEAF=0.333;MQ=59.49;MQRankSum=-1.058e+01;QD=0.36;ReadPosRankSum=2.61;SOR=0.798	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:181,0:181:0:.:.:0,0,3877	5	0	4	12
chr12	40509056	40509056	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	559	887	73	3	0	79	0.0426336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1305621476	1.742e-05	0.0002	0	3.572e-05	.	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0005	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1667	223.58	151	chr12	40509056	.	G	A	223.58	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-8.510e-01;DP=3396;ExcessHet=0.3300;FS=1.041;InbreedingCoeff=-0.2842;MLEAC=5;MLEAF=0.278;MQ=59.51;MQRankSum=-1.061e+01;QD=0.46;ReadPosRankSum=2.69;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:187,0:187:0:.:.:0,0,4057	6	0	3	12
chr12	40509061	40509061	G	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	557	891	71	3	0	77	0.0414201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1348486958	3.908e-05	0.0002	3.806e-05	4.015e-05	2.421e-05	6.48e-06	2.42e-06	.	.	0	0	0	0	0.0002	0	2.421e-05	0	0	9.211e-05	0.0006	9.011e-05	9.421e-05	0.0003	5.535e-05	4.37e-05	0.0001	0.0001	0.0003	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1667	232.05	153	chr12	40509061	.	G	C	232.05	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-1.618e+00;DP=3425;ExcessHet=0.3300;FS=1.041;InbreedingCoeff=-0.2751;MLEAC=5;MLEAF=0.278;MQ=59.52;MQRankSum=-1.068e+01;QD=0.48;ReadPosRankSum=2.62;SOR=0.810	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:190,0:190:0:.:.:0,0,4130	6	0	3	12
chr12	40509062	40509062	A	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	557	890	72	3	0	78	0.0419806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239171133	3.865e-05	0.0002	3.759e-05	3.976e-05	2.401e-05	6.41e-06	2.4e-06	.	.	0	0	0	0	0.0002	0	2.401e-05	0	0	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1667	235.27	153	chr12	40509062	.	A	C	235.27	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-9.720e-01;DP=3311;ExcessHet=0.3300;FS=1.049;InbreedingCoeff=-0.2775;MLEAC=5;MLEAF=0.278;MQ=59.52;MQRankSum=-1.068e+01;QD=0.48;ReadPosRankSum=2.59;SOR=0.817	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:190,0:190:0:.:.:0,0,4130	6	0	3	12
chr12	40509076	40509076	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	553	907	60	2	0	64	0.0340788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796925819	3.366e-05	0.0002	6.615e-05	0	5.131e-05	0	0	.	.	0	0	0	0	0	0	5.131e-05	0	0	6.575e-06	0.0004	0	1.345e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1111	135.05	163	chr12	40509076	.	G	A	135.05	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-1.145e+00;DP=3209;ExcessHet=0.1072;FS=1.064;InbreedingCoeff=-0.2414;MLEAC=4;MLEAF=0.222;MQ=59.56;MQRankSum=-1.104e+01;QD=0.44;ReadPosRankSum=2.23;SOR=0.968	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:196,0:196:0:.:.:0,0,4205	7	0	2	12
chr12	40509081	40509081	T	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	552	908	60	2	0	64	0.0340426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796068417	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	9.204e-05	0.0005	0.0001	8.068e-05	0.0003	5.531e-05	4.367e-05	0.0001	0.0001	0.0003	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1111	95.14	165	chr12	40509081	.	T	C	95.14	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-3.490e-01;DP=3196;ExcessHet=0.1072;FS=1.075;InbreedingCoeff=-0.2346;MLEAC=3;MLEAF=0.167;MQ=59.60;MQRankSum=-1.111e+01;QD=0.31;ReadPosRankSum=2.04;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:196,0:196:0:.:.:0,0,4068	7	0	2	12
chr12	40510221	40510221	C	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	551	928	43	0	0	43	0.0226435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061901	.	.	.	.	.	.	.	.	0.0015977	247	154602	rs11176952	0.0106	0.0063	0.0104	0.0109	0.0204	0.0104	0.0103	0.0186	0.0179	0.0015	0.0040	0.0037	0.0003	0.0016	0.0148	0.0110	0.0073	0.0204	0.0073	0.0073	0.0079	0.0067	0.0162	0.0070	0.0068	0.0133	0.0122	0.0022	0.0899	0.0027	0.0037	0	0.0015	0.0170	0.0114	0.0062	0.0162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	825.98	35	chr12	40510221	.	C	T	825.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=799;ExcessHet=0.0000;FS=0.916;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=-2.069e+00;SOR=0.507	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	20	0	1	0
chr12	40511000	40511000	A	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	543	846	132	1	0	134	0.0733844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1334958236	0	2.394e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	3.398e-05	0.0059	1.325e-05	5.579e-05	0.0002	1.294e-05	8.22e-06	.	.	2.479e-05	0	6.864e-05	0	0	9.885e-05	0	0	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	352.11	39	chr12	40511000	.	A	G	352.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.47;DP=2901;ExcessHet=0.1072;FS=20.470;InbreedingCoeff=-0.0501;MLEAC=2;MLEAF=0.048;MQ=58.89;MQRankSum=-1.518e+01;QD=0.72;ReadPosRankSum=-4.000e+00;SOR=3.933	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:194,0:194:99:.:.:0,120,1800	19	0	2	0
chr12	40519033	40519033	C	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	475	1045	2	0	0	2	0.000956023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.226e-05	2.052e-05	1.573e-05	2.905e-05	0.0003	1.528e-05	1.291e-05	0.0002	0.0002	0	0	0	0	0	0.0002	1.098e-06	0	0.0003	6.575e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2363.98	33	chr12	40519033	.	C	G	2363.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.501;DP=1298;ExcessHet=0.0000;FS=1.752;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.71;MQRankSum=-2.725e+00;QD=12.12;ReadPosRankSum=0.850;SOR=0.806	GT:AD:DP:GQ:PL	0/0:106,0:106:99:0,120,1800	20	0	1	0
chr12	40525410	40525410	C	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	436	1072	13	1	0	15	0.00694766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs563397340	0.0049	0.0036	0.0048	0.0049	0.0058	0.0048	0.0047	0.0051	0.0049	0.0009	0.0007	0.0032	0.0002	0.0032	0.0025	0.0051	0.0038	0.0058	0.0033	0.0033	0.0035	0.0030	0.0060	0.0030	0.0029	0.0047	0.0046	0.0008	0	0.0022	0.0032	0	0.0026	0.0034	0.0052	0.0033	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1567.94	33	chr12	40525409	.	AC	A	1567.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.320e-01;DP=913;ExcessHet=0.0000;FS=0.670;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.85;ReadPosRankSum=0.658;SOR=0.776	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr12	40565511	40565511	G	C	splicing	MUC19	NM_173600:exon168:c.23992-2G>C	.	.	.	.	448	1068	6	0	0	6	0.00280112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.879	15.59	5.42	1.003	2.617	8.527	.	.	.	.	6.048e-05	0	0	0	0	0.0002	0	0	6.5e-06	1	154602	rs754425938	3.994e-05	3.147e-05	3.066e-05	4.958e-05	0.0011	3.061e-05	2.738e-05	0.0004	0.0003	0	0	0	0	0	0.0011	3.367e-05	0.0002	1.312e-05	5.255e-05	5.251e-05	2.571e-05	8.061e-05	7.351e-05	2.557e-05	1.83e-05	2.847e-05	1.858e-05	2.407e-05	0	0	0	0	0	0.0034	7.351e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1227.98	34	chr12	40565511	.	G	C	1227.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.896;DP=835;ExcessHet=0.0000;FS=4.081;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.10;ReadPosRankSum=-1.165e+00;SOR=1.037	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr12	40567679	40567679	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.923	T	0.191	T	.	1.107	9.515	2.16	0.362	-0.074	7.364	0.001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.185e-06	1.59e-06	0	5.631e-06	1.702e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.702e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1908.08	33	chr12	40567679	.	G	A	1908.08	.	AC=2;AF=0.048;AN=42;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.81;SOR=0.892	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1071	20	1	0	0
chr12	40570509	40570509	C	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.981	N	.	.	.	.	-0.947	T	0.130	T	.	5.620	36	-0.511	-0.192	0.095	14.264	0.056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs986819918	3.656e-06	7.952e-06	0	6.767e-06	3.236e-05	6.1e-07	2.3e-07	.	.	0	3.236e-05	0	0	0	0	0	3.331e-05	0	2.631e-05	2.628e-05	2.571e-05	2.693e-05	4.83e-05	8.15e-06	5.14e-06	8.01e-06	2.99e-06	4.83e-05	0	0	0	0	0	0	1.47e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1770.98	35	chr12	40570509	.	C	T	1770.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.91;DP=823;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.73;ReadPosRankSum=-8.650e-01;SOR=0.745	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1412	20	0	1	0
chr12	40944070	40944070	C	T	exonic	CNTN1	.	nonsynonymous SNV	CNTN1:NM_175038:exon12:c.C1550T:p.A517V	.	.	.	.	.	.	.	.	.	.	.	1010426	Compton-North_congenital_myopathy	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540,Orphanet:210163	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.81	T	1.0	D	0.997	D	0.000	D	1.000	D	1.59	L	2.53	T	-1.110	T	0.072	T	0.744	2.275	13.56	4.72	2.625	7.114	18.248	0.208	0.0259973946858	.	.	8.268e-06	0	0	0	0	1.503e-05	0	0	6.5e-06	1	154602	rs779551448	8.212e-06	8.209e-06	9.532e-06	6.878e-06	0.0002	4.38e-06	3.46e-06	1.583e-05	9.3e-06	0	0	0	0	0	0.0002	6.297e-06	0	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.734	0.11550	T	0.478	0.25061	T	0.949	0.90584	P	0.821	0.86255	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.325	0.33218	L	2.53	0.14038	T	-0.89	0.24026	N	0.811	0.83066	-1.1097	0.03096	T	0.072	0.29291	T	10	0.7857443	0.78231	D	0.025997	0.48938	D	0.208	0.49714	0.569	0.69167	0.454055122543	0.45028	0.8454460965493286	0.84505	0.955170405442	0.72777	0.584843277931	0.50768	T	0.261581	0.63307	T	-0.0535707	0.43903	T	-0.217873	0.52942	T	0.940226197242737	0.61237	D	0.931907	0.86510	D	0.16107453	0.36092	0.16980386	0.39042	0.16107453	0.36091	0.16980386	0.39042	-4.496	0.50271	T	.	.	0.51	0.67450	A	.;.;.;.;.	.;.;.;.;.	4.250720	0.64526	24.7	0.99609206912088266	0.74694	0.98786	0.86836	D	AEFI	0.852039	0.76894	D	0.324070130722143	0.57386	3.905766	0.275154152814646	0.54091	3.575339	0.999990946839377	0.74766	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	4.72	4.72	0.59248	7.182000	0.77229	7.653000	0.63809	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.829000	0.39076	0.0:1.0:0.0:0.0	18.248	0.89933	736	0.53558	.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1064.98	34	chr12	40944070	.	C	T	1064.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.46;DP=828;ExcessHet=0.0000;FS=0.673;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.32;ReadPosRankSum=0.178;SOR=0.803	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1089	20	0	1	0
chr12	41069988	41069988	G	A	exonic	CNTN1	.	nonsynonymous SNV	CNTN1:NM_175038:exon22:c.G2977A:p.G993S	.	.	2	1519	1	0	0	1	0.000329056	.	.	839903	Compton-North_congenital_myopathy	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540,Orphanet:210163	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.86	T	0.998	D	0.796	P	0.011	N	1.000	D	0.525	N	0.35	T	-0.980	T	0.143	T	0.142	0.852	8.446	4.68	1.476	2.913	13.883	0.146	0.0193601934698	.	.	8.239e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs745975456	1.3e-05	1.3e-05	5.445e-06	2.063e-05	0.0001	8.31e-06	6.7e-06	5.395e-05	4.042e-05	5.974e-05	6.708e-05	0	0	0	0	4.497e-06	0	0.0001	6.58e-06	6.57e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.375	0.11370	T	0.634	0.07105	T	0.997	0.73220	D	0.63	0.58006	P	0.011115	0.29657	N	0.366113	0.770321	0.45795	D	0.68	0.16426	N	0.35	0.58176	T	0.19	0.04947	N	0.128	0.12913	-0.9796	0.35094	T	0.143	0.46514	T	10	0.24622169	0.41883	T	0.01936	0.41701	T	0.146	0.38789	0.415	0.45380	0.541642161911	0.53816	0.5470978467527887	0.54635	0.305927689878	0.32891	0.310824811459	0.12032	T	0.274107	0.64658	T	-0.295519	0.09089	T	-0.480741	0.24368	T	0.279087632894516	0.24133	T	0.676232	0.28483	T	0.03985836	0.05583	0.06083173	0.11650	0.03985836	0.05582	0.06083173	0.11650	-1.489	0.01744	T	.	.	0.171	0.39697	B	.;.;.	.;.;.	2.153336	0.27432	17.46	0.65532721914266923	0.07799	0.88525	0.48493	D	AEFI	0.333199	0.43237	N	0.0420607821141907	0.43778	2.66412	0.0814661202258425	0.43616	2.659783	0.005049030778697	0.10808	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.58	4.68	0.58319	2.652000	0.46347	2.557000	0.33294	0.618000	0.50648	0.997000	0.40164	0.996000	0.32793	0.880000	0.42090	0.0747:0.0:0.9253:0.0	13.883	0.63192	840	0.37365	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2174.98	39	chr12	41069988	.	G	A	2174.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.569;DP=903;ExcessHet=0.0000;FS=1.120;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=-7.380e-01;SOR=0.816	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1307	20	0	1	0
chr12	41573505	41573505	G	T	exonic	PDZRN4	.	nonsynonymous SNV	PDZRN4:NM_013377:exon8:c.G1952T:p.R651L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.988	D	0.935	D	0.000	D	1.000	D	2.165	M	0.85	T	-0.574	T	0.268	T	0.601	3.473	17.78	5.34	2.890	5.321	13.220	0.240	0.0272032187023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.79402	D	0.959	0.62325	D	0.621	0.67021	P	0.000120	0.50451	D	0.081704	0.999966	0.52935	D	2.44	0.70756	M	0.85	0.47130	T	-5.76	0.89871	D	0.533	0.70790	-0.5739	0.65860	T	0.268	0.63897	T	10	0.67680347	0.71040	D	0.027203	0.50036	D	0.240	0.54500	0.424	0.46857	0.789849054134	0.78790	0.35685984664631104	0.35599	0.548449671167	0.51785	0.706968963146	0.68154	T	0.206056	0.56528	T	-0.0217891	0.48597	T	-0.269075	0.47912	T	0.996186196804047	0.88832	D	0.989701	0.96679	D	0.6019628	0.72796	0.58931303	0.76174	0.6019628	0.72797	0.58931303	0.76175	-12.886	0.88888	D	.	.	0.658	0.71241	P	.;.;.;.	.;.;.;.	4.711053	0.75686	26.4	0.99811529912975494	0.89531	0.96760	0.70792	D	AEFBI	0.785465	0.71584	D	0.701956432343782	0.79761	7.146348	0.680455298596931	0.80896	7.402071	0.220376603591332	0.18348	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.34	5.34	0.75982	5.453000	0.66386	11.852000	0.98107	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.896000	0.43308	0.074:0.0:0.926:0.0	13.220	0.59305	789	0.46346	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2306.98	33	chr12	41573505	.	G	T	2306.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.190e-01;DP=956;ExcessHet=0.0000;FS=0.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.51;ReadPosRankSum=1.81;SOR=0.603	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,102,1530	20	0	1	0
chr12	42119164	42119164	-	TCTACACCTGTCCCACCCGCCGGAATGCGCCACAGGGCCCGCGCTGCCAGCGCCTCTC	exonic	GXYLT1	.	stopgain	GXYLT1:NM_001099650:exon2:c.228_229insGAGAGGCGCTGGCAGCGCGGGCCCTGTGGCGCATTCCGGCGGGTGGGACAGGTGTAGA:p.L77Efs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0003	8.664e-05	0.0002	0	0.0002	0	0.0006	.	.	.	.	0.0031	0.0089	0.0017	0.0045	0.0063	0.0030	0.0030	0.0058	0.0057	0.0019	0.0024	0.0017	0.0037	0.0019	0.0011	0.0030	0.0031	0.0063	4.643e-05	0.0019	2.593e-05	6.791e-05	7.298e-05	2.127e-05	1.538e-05	1.935e-05	1.036e-05	7.298e-05	0	0	0	0	9.527e-05	0	4.454e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	376.92	74	chr12	42119164	.	G	GTCTACACCTGTCCCACCCGCCGGAATGCGCCACAGGGCCCGCGCTGCCAGCGCCTCTC	376.92	.	AC=3;AF=0.075;AN=40;BaseQRankSum=0.510;DP=1495;ExcessHet=0.3476;FS=54.228;InbreedingCoeff=-0.0699;MLEAC=2;MLEAF=0.050;MQ=57.56;MQRankSum=-7.410e+00;QD=1.58;ReadPosRankSum=-1.690e+00;SOR=5.900	GT:AD:DP:GQ:PL	0/1:69,5:74:2:2,0,2824	17	0	3	1
chr12	42460069	42460069	G	A	exonic	PRICKLE1	.	nonsynonymous SNV	PRICKLE1:NM_001144881:exon8:c.C2236T:p.P746S	Epilepsy, progressive myoclonic 1B, Autosomal recessive	.	0	1501	21	0	0	21	0.00694674	.	.	135472	Epilepsy,_progressive_myoclonic,_1B|not_specified|not_provided	MONDO:MONDO:0012904,MedGen:C2676254,OMIM:612437,Orphanet:308|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.037	B	0.009	B	0.000	D	1.000	N	0.805	L	-1.99	D	-0.885	T	0.026	T	0.07	0.601	7.240	5.58	2.782	4.875	19.946	0.304	.	0.0016	0.0201677	0.0101	0.0004	0.0194	0.0864	0.0002	0.0021	0.0011	0.0070	0.0095018	1469	154602	rs3827522	0.0054	0.0054	0.0053	0.0055	0.0795	0.0053	0.0052	0.0772	0.0762	0.0004	0.0158	0.0021	0.0795	0.0003	0.0040	0.0025	0.0076	0.0071	0.0060	0.0060	0.0055	0.0065	0.0847	0.0057	0.0055	0.0781	0.0755	0.0007	0	0.0121	0.0017	0.0847	0.0007	0.0034	0.0027	0.0062	0.0108	0.018	0.50676	D	0.16	0.31427	T	0.037	0.20876	B	0.009	0.14300	B	0.000406	0.44736	D	0.225035	0.999826	0.20203	N	1.665	0.42610	L	-1.99	0.85320	D	-1.49	0.36385	N	0.104	0.14622	-0.8854	0.49324	T	0.026	0.11220	T	10	0.0017695427	0.00023	T	.	.	.	0.304	0.62510	.	.	.	.	0.3551184717963568	0.35425	0.394066426659	0.40570	0.341263651848	0.16627	T	0.145985	0.48338	T	-0.432641	0.01429	T	-0.31767	0.42829	T	0.0609070858450115	0.07310	T	0.746025	0.36642	T	0.08557991	0.19857	0.14977208	0.35349	0.07266875	0.16183	0.1339355	0.32104	-3.176	0.12190	T	0.19171987352439407	0.25166	0.077	0.06479	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.424381	0.47561	22.5	0.98131507539475249	0.38522	0.89993	0.50831	D	AEFBI	0.521986	0.54619	D	-0.177623512281458	0.34068	1.940114	-0.0573963437080761	0.37172	2.172883	0.999457632561927	0.39788	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	5.58	5.58	0.84361	7.547000	0.81094	5.769000	0.49731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.361000	0.25909	0.0:0.0:1.0:0.0	19.946	0.97182	503	0.75780	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1795.11	33	chr12	42460069	.	G	A	1795.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.75;DP=825;ExcessHet=0.1072;FS=1.537;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=16.17;ReadPosRankSum=2.24;SOR=0.648	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1217	19	0	2	0
chr12	42469464	42469464	C	T	exonic	PRICKLE1	.	nonsynonymous SNV	PRICKLE1:NM_001144881:exon4:c.G370A:p.A124T	Epilepsy, progressive myoclonic 1B, Autosomal recessive	.	1	1491	29	1	0	31	0.0102887	.	.	135473	Epilepsy,_progressive_myoclonic,_1B|not_specified|Childhood_epilepsy_with_centrotemporal_spikes	MONDO:MONDO:0012904,MedGen:C2676254,OMIM:612437,Orphanet:308|MedGen:CN169374|MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.21	T	0.002	B	0.006	B	0.000	D	1.000	D	2.15	M	0.05	T	-0.892	T	0.019	T	0.178	2.831	15.43	3.55	1.413	1.908	12.584	0.099	.	0.0017	0.0273562	0.0135	0.0006	0.0195	0.0924	0.0002	0.0021	0.0044	0.0281	0.0125548	1941	154602	rs79087668	0.0067	0.0067	0.0061	0.0073	0.0834	0.0066	0.0066	0.0811	0.0801	0.0005	0.0158	0.0021	0.0834	0.0003	0.0045	0.0025	0.0097	0.0265	0.0071	0.0071	0.0060	0.0082	0.0910	0.0067	0.0066	0.0843	0.0816	0.0007	0	0.0122	0.0017	0.0910	0.0007	0.0034	0.0027	0.0062	0.0373	0.184	0.21634	T	0.256	0.23298	T	0.002	0.09854	B	0.006	0.12133	B	0.000124	0.49741	D	0.207611	0.999915	0.51042	D	0.845	0.21182	L	0.05	0.76561	T	-1.21	0.33197	N	0.078	0.15046	-0.8924	0.48722	T	0.019	0.08033	T	10	0.001621902	0.00019	T	.	.	.	0.099	0.28413	.	.	.	.	0.3095601302993247	0.30869	0.339430259153	0.35891	0.450280964375	0.31982	T	0.118743	0.43978	T	-0.468024	0.00875	T	-0.358207	0.38261	T	0.00760317014155403	0.00088	T	0.819018	0.50309	T	0.08712119	0.20275	0.12031081	0.29035	0.08903565	0.20790	0.12031081	0.29034	-5.203	0.38972	T	0.06110281018219036	0.01722	0.073	0.04723	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.598206	0.33719	19.42	0.99004866399912961	0.50231	0.81330	0.40756	D	AEFDGBHCI	0.186650	0.31395	N	-0.107796757099699	0.37053	2.150237	0.00894855236807661	0.40128	2.390033	0.999999983472388	0.74766	0.706548	0.73137	0	0.218748	0.04544	0	0.724815	0.87919	0	0.723	0.93126	0	.	.	5.41	3.55	0.39770	1.948000	0.39929	2.647000	0.33790	0.599000	0.40250	0.952000	0.33172	0.992000	0.31684	0.984000	0.60418	0.0:0.8578:0.0:0.1422	12.584	0.55761	502	0.75873	Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;.	.	.	.	.	rs79087668	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1497.11	34	chr12	42469464	.	C	T	1497.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.756e+00;DP=843;ExcessHet=0.1072;FS=1.905;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.18;ReadPosRankSum=-1.470e+00;SOR=0.852	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1217	19	0	2	0
chr12	43429690	43429690	T	A	exonic	ADAMTS20	.	nonsynonymous SNV	ADAMTS20:NM_025003:exon24:c.A3416T:p.K1139I,	.	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.002	B	0.003	B	0.160	N	1.000	N	1.245	L	0.18	T	-0.966	T	0.188	T	0.228	1.258	10.10	2.17	0.314	2.445	6.455	0.080	.	.	0.00798722	0.0099	0.0002	0.0004	0	0	0.0003	0.0023	0.0487	0.0040038	619	154602	rs556416774	0.0021	0.0022	0.0012	0.0030	0.0342	0.0020	0.0020	0.0332	0.0328	0	0	0.0015	2.543e-05	0	0.0009	2.089e-05	0.0019	0.0342	0.0013	0.0013	0.0007	0.0020	0.0392	0.0012	0.0011	0.0346	0.0329	2.407e-05	0	0	0.0017	0	0	0.0068	2.94e-05	0.0014	0.0392	0.148	0.24857	T	0.179	0.32783	T	.	.	.	.	.	.	0.159891	0.03030	N	1.783800	1	0.08975	N	0.345	0.11182	N	0.18	0.62318	T	-1.99	0.45949	N	0.353	0.39457	-0.9662	0.37974	T	0.188	0.53856	T	10	0.0033797324	0.00059	T	.	.	.	0.080	0.23350	.	.	0.728219343613	0.72580	0.40515359757396235	0.40431	0.0537900202015	0.05943	0.281335920095	0.07679	T	.	.	.	-0.488074	0.00666	T	-0.448098	0.27907	T	0.0166194557622647	0.00422	T	0.544846	0.18617	T	.	.	.	.	.	.	.	.	-4.524	0.31201	T	.	.	0.186	0.40131	B	.;.;.	.;.;.	1.629653	0.20810	14.92	0.90008085711112829	0.19298	0.38835	0.26077	N	AEFBI	0.135826	0.25629	N	-0.792780248416179	0.13498	0.6653346	-0.823996711990817	0.13915	0.7243663	5.86084020006862E-6	0.01202	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.69	2.17	0.26736	1.670000	0.37118	2.054000	0.30360	0.609000	0.47794	0.012000	0.18695	0.057000	0.21958	0.172000	0.21044	0.1566:0.0:0.1638:0.6796	6.455	0.21126	889	0.27310	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1248.98	36	chr12	43429690	.	T	A	1248.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.935e+00;DP=797;ExcessHet=0.0000;FS=1.738;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.73;ReadPosRankSum=-1.143e+00;SOR=0.981	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1324	20	0	1	0
chr12	43746128	43746128	A	G	exonic	PUS7L	.	nonsynonymous SNV	PUS7L:NM_001271826:exon3:c.T242C:p.I81T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	1.000	D	3.53	H	1.17	T	-0.347	T	0.290	T	0.857	3.562	18.16	3.27	0.772	8.139	11.604	0.486	0.0335361802919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.355e-07	1.37e-06	0	1.467e-06	9.781e-07	0	0	.	.	0	0	0	0	0	0	9.781e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.76473	D	1.0	0.90584	D	0.994	0.82059	D	0.000006	0.62929	D	0.062767	0.999943	0.51968	D	3.85	0.95769	H	1.17	0.37910	T	-3.77	0.76015	D	0.841	0.83678	-0.3475	0.73625	T	0.290	0.66201	T	10	0.7665334	0.76748	D	0.033536	0.55052	D	0.486	0.77464	0.643	0.78010	0.696135561912	0.69351	0.7996230344568083	0.79916	0.255294500027	0.28121	0.582639575005	0.50456	T	0.329056	0.76274	T	0.255004	0.79067	D	0.128519	0.78795	D	0.997077107429504	0.90711	D	0.935206	0.79272	D	0.73733515	0.80140	0.6028011	0.76918	0.73733515	0.80142	0.6028011	0.76919	-12.279	0.86183	D	.	.	0.611	0.75962	P	.;.;.;.;.;.	.;.;.;.;.;.	4.827780	0.78691	27.0	0.99853728980085743	0.93279	0.99631	0.98164	D	AEFGBI	0.874101	0.79681	D	0.704603909924195	0.79934	7.183929	0.561902850990633	0.72228	5.777059	0.876561792474474	0.25528	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.655142	0.61905	0	.	.	4.45	3.27	0.36580	8.097000	0.89373	10.569000	0.83441	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.8504:0.1496:0.0:0.0	11.604	0.50279	608	0.67185	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1114.98	34	chr12	43746128	.	A	G	1114.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.510e-01;DP=804;ExcessHet=0.0000;FS=5.209;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=0.023;SOR=0.780	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1085	20	0	1	0
chr12	45050648	45050648	G	C	exonic	DBX2	.	nonsynonymous SNV	DBX2:NM_001004329:exon1:c.C280G:p.P94A,	.	.	408	1110	3	1	0	5	0.00224719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.98	D	0.956	D	0.962	N	0.995	N	0.805	L	-2.92	D	-0.114	T	0.713	D	0.245	1.710	11.68	0.914	0.345	1.591	6.253	0.247	0.633536488703	0.0015	0.000998403	0.0017	0	0	0	0	0.0048	0	0.0003	0.0012096	187	154602	rs200382293	0.0038	0.0037	0.0038	0.0037	0.0045	0.0037	0.0036	0.0044	0.0044	0.0005	0.0008	0.0009	0	0.0024	0.0006	0.0045	0.0029	0.0004	0.0022	0.0022	0.0024	0.0021	0.0040	0.0020	0.0020	0.0037	0.0035	0.0007	0	0.0008	0	0	0.0018	0	0.0040	0.0009	0.0002	0.103	0.30097	T	0.298	0.20486	T	0.98	0.59353	D	0.956	0.69739	D	0.962169	0.08216	N	0.972993	0.995022	0.23389	N	1.795	0.47270	L	-2.92	0.91748	D	-1.57	0.37955	N	0.279	0.31590	-0.1144	0.79765	T	0.713	0.90144	D	10	0.008105904	0.00184	T	0.633536	0.96859	D	0.247	0.55478	.	.	0.476522311808	0.47281	0.3101731616694934	0.30930	0.143745575346	0.16234	0.842742264271	0.88512	D	0.02214	0.17120	T	-0.320819	0.06830	T	-0.231691	0.51608	T	0.0153506032003332	0.00342	T	0.471053	0.13966	T	0.04925329	0.08717	0.06837056	0.14270	0.04925329	0.08716	0.06837056	0.14270	-3.352	0.14417	T	.	.	0.056	0.00487	B	.	.	2.462021	0.31716	18.83	0.96864967033579741	0.31396	0.55767	0.29947	D	AEFDBHIJ	0.101091	0.20312	N	-0.30869052743431	0.28818	1.592677	-0.441116780563014	0.23802	1.299927	0.950728442060351	0.27913	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	1.82	0.914	0.18488	1.831000	0.38781	0.598000	0.19894	-0.143000	0.12349	0.977000	0.34929	0.645000	0.25934	0.116000	0.19000	0.1567:0.0:0.8433:0.0	6.253	0.20064	757	0.50970	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	740.98	46	chr12	45050648	.	G	C	740.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.800e-02;DP=856;ExcessHet=0.0000;FS=0.861;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.26;ReadPosRankSum=0.347;SOR=0.872	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1221	20	0	1	0
chr12	45292920	45292920	T	A	exonic	ANO6	.	startloss	ANO6:NM_001142678:exon1:c.T2A:p.M1?,	Scott syndrome, Autosomal recessive	.	0	1510	11	1	0	13	0.00428619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.006	B	0.009	B	.	.	1.000	N	.	.	-0.27	T	-0.890	T	0.174	T	0.169	2.617	14.71	2.33	1.338	0.481	6.604	0.051	0.150544180496	0.0015	0.00179712	0.0020	0	0	0	0	0.0018	0.0053	0.0029	0.0005951	92	154602	rs12822001	0.0019	0.0018	0.0019	0.0019	0.0032	0.0018	0.0018	0.0021	0.0020	0.0003	0.0009	0.0005	2.799e-05	0.0008	0.0032	0.0021	0.0016	0.0023	0.0011	0.0011	0.0011	0.0011	0.0025	0.0009	0.0009	0.0015	0.0014	0.0003	0	0.0003	0.0003	0.0002	0.0004	0.0136	0.0018	0.0028	0.0025	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-0.27	0.67367	T	0.43	0.03297	N	0.286	0.32370	-0.8901	0.48925	T	0.174	0.51785	T	8	0.006794691	0.00154	T	0.150544	0.83221	D	0.051	0.14325	.	.	0.227260227426	0.22338	.	.	.	.	.	.	.	.	.	.	-0.386899	0.02816	T	-0.334078	0.41014	T	0.102484657793171	0.12628	T	0.9	0.65058	D	.	.	.	.	.	.	.	.	-6.039	0.46604	T	.	.	.	.	.	.	.	1.369736	0.17795	13.37	0.9294030930789221	0.22508	0.03581	0.08799	N	ALL	0.009413	0.00054	N	-0.683514204085586	0.16492	0.840696	-0.728882169161523	0.16243	0.8583549	0.999996774318743	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.55458	0.18720	0	0.677812	0.66336	0	.	.	2.33	2.33	0.27981	0.469000	0.21779	-0.235000	0.10642	0.665000	0.62972	0.006000	0.17386	0.000000	0.08366	0.967000	0.53440	0.0:0.0:0.0:1.0	6.604	0.21909	740	0.53092	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1249.98	36	chr12	45292920	.	T	A	1249.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.880e-01;DP=788;ExcessHet=0.0000;FS=1.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=0.089;SOR=0.661	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1246	20	0	1	0
chr12	45439818	45439818	C	G	exonic	ANO6	.	nonsynonymous SNV	ANO6:NM_001142679:exon20:c.C2670G:p.D890E,	Scott syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.0	B	0.0	B	.	.	1.000	N	0	N	-0.55	T	-1.047	T	0.119	T	0.035	0.562	7.039	-2.23	-0.648	-1.249	3.396	0.038	0.00974770263844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0039	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0	4.069e-05	5.662e-05	0	0	0.0003	0.0002	9.079e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.55	0.71068	T	0.72	0.02099	N	0.103	0.08646	-1.0467	0.15332	T	0.119	0.41735	T	9	0.040973663	0.02713	T	0.009748	0.25449	T	0.038	0.09825	0.297	0.26202	0.221734844693	0.21761	.	.	.	.	.	.	.	.	.	.	-0.252914	0.13744	T	-0.60107	0.12721	T	0.0346802229247811	0.02754	T	0.192181	0.02062	T	.	.	.	.	.	.	.	.	-3.694	0.19230	T	.	.	0.159	0.35247	B	.	.	0.313626	0.06887	3.422	0.42230997187820268	0.03099	0.00592	0.02653	N	AEFBI	0.026279	0.01945	N	-1.72133448649868	0.00769	0.03320854	-1.77678337462465	0.00836	0.03736014	0.867500058919336	0.25347	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	2.22	-2.23	0.06539	-0.913000	0.04150	-2.612000	0.03549	-0.585000	0.04679	0.000000	0.06391	0.000000	0.08366	0.513000	0.29313	0.0:0.3519:0.2105:0.4377	3.396	0.06880	711	0.56613	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	480.11	138	chr12	45439818	.	C	G	480.11	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-5.045e+00;DP=1884;ExcessHet=0.3300;FS=215.676;InbreedingCoeff=-0.0848;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=1.04;ReadPosRankSum=3.46;SOR=10.597	GT:AD:DP:GQ:PL	0/0:148,32:198:41:0,41,3257	18	0	3	0
chr12	45891802	45891802	G	C	exonic	ARID2	.	nonsynonymous SNV	ARID2:NM_001347839:exon17:c.G4945C:p.V1649L	.	.	433	1077	11	1	0	13	0.00599908	.	.	137311	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.61	T	0.537	P	0.275	B	0.000	D	1.000	D	1.15	L	1.0	T	-1.070	T	0.100	T	0.854	3.222	16.79	5.17	2.553	9.233	19.028	0.222	0.0223764760044	0.0002	0.000998403	0.0013	9.621e-05	0.0010	0	0	0.0010	0.0022	0.0051	0.0011837	183	154602	rs201268655	0.0007	0.0007	0.0005	0.0009	0.0050	0.0006	0.0006	0.0046	0.0044	0.0002	0.0006	0.0007	0	1.872e-05	0.0047	0.0004	0.0008	0.0050	0.0005	0.0005	0.0003	0.0006	0.0048	0.0004	0.0004	0.0033	0.0028	0.0002	0	0.0005	0.0003	0	0	0	0.0005	0.0014	0.0048	0.1	0.32929	T	0.051	0.92824	T	0.217	0.32186	B	0.04	0.32387	B	0.000000	0.84330	D	0.000000	0.999998	0.81001	D	1.04	0.26193	L	1.0	0.41392	T	-0.97	0.51646	N	0.74	0.79792	-1.0698	0.09458	T	0.100	0.37085	T	10	0.012111098	0.00262	T	0.022376	0.45263	T	0.222	0.51872	.	.	0.718575572554	0.71610	0.48737062560680344	0.48657	0.184298380875	0.20729	0.83280390501	0.86992	D	0.039466	0.25199	T	-0.143323	0.29361	T	0.0217533	0.71743	D	0.0539407879114151	0.06179	T	0.889011	0.66112	D	0.31849742	0.54512	0.21973705	0.46724	0.28788137	0.51795	0.21093398	0.45500	-9.742	0.72353	D	.	.	0.926	0.84845	P	.;.;.;.	.;.;.;.	4.081993	0.60724	24.3	0.98938570650694557	0.48902	0.99415	0.95738	D	AEFBI	0.878903	0.80446	D	0.190215641634862	0.50729	3.260232	0.352645208474332	0.58667	4.038622	0.999999972376364	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.17	5.17	0.70848	9.322000	0.95579	11.831000	0.97525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	19.028	0.92921	843	0.36859	Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1419.98	96	chr12	45891802	.	G	C	1419.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.189e+00;DP=787;ExcessHet=0.0000;FS=1.789;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.79;ReadPosRankSum=0.266;SOR=0.511	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1177	20	0	1	0
chr12	45927363	45927363	T	G	exonic	SCAF11	.	nonsynonymous SNV	SCAF11:NM_004719:exon11:c.A2338C:p.T780P,	.	.	429	1084	9	0	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.475	P	0.047	B	0.022	N	1.000	N	1.15	L	2.18	T	-1.042	T	0.056	T	0.118	-0.963	0.319	-6.47	-0.488	-0.085	2.159	0.036	0.00268613874495	.	0.000599042	0.0004	9.623e-05	0.0003	0.0002	0	0.0005	0	0.0006	0.0003946	61	154602	rs137901313	0.0004	0.0004	0.0003	0.0004	0.0019	0.0004	0.0003	0.0011	0.0008	2.987e-05	0.0002	7.652e-05	7.557e-05	1.872e-05	0.0019	0.0004	0.0006	0.0006	0.0004	0.0004	0.0005	0.0002	0.0006	0.0003	0.0003	0.0005	0.0004	2.405e-05	0	0.0004	0.0003	0.0002	0	0.0034	0.0006	0	0.0006	0.29	0.14996	T	0.372	0.16376	T	0.475	0.36638	P	0.047	0.24832	B	0.022414	0.01572	N	2.117220	1	0.08975	N	1.39	0.34934	L	2.18	0.32722	T	-0.28	0.13035	N	0.063	0.08786	-1.0424	0.16592	T	0.056	0.23450	T	10	0.009508461	0.00214	T	0.002686	0.05492	T	0.036	0.09122	.	.	0.165150595986	0.16160	0.09782510472252012	0.09713	0.0601548666932	0.06689	0.299746394157	0.10363	T	0.011838	0.40268	T	-0.538987	0.00340	T	-0.632499	0.10226	T	0.00895828562709368	0.00112	T	0.314968	0.19272	T	0.054871935	0.10589	0.03679271	0.03197	0.054871935	0.10588	0.03679271	0.03196	-4.387	0.29571	T	.	.	0.101	0.22573	B	.;.;.	.;.;.	0.260980	0.06395	2.861	0.57891889694222987	0.05869	0.06290	0.12284	N	AEFGBI	0.079472	0.16051	N	-1.08163389495195	0.06982	0.322989	-1.2017298169754	0.05883	0.2815593	0.988280516447406	0.31463	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	5.57	-6.47	0.01731	-0.003000	0.12836	-0.151000	0.11419	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.043000	0.14563	0.2066:0.3385:0.304:0.1509	2.159	0.03587	824	0.40336	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2626.98	34	chr12	45927363	.	T	G	2626.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.00;DP=927;ExcessHet=0.0000;FS=5.154;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.18;ReadPosRankSum=2.02;SOR=0.444	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,108,1063	20	0	1	0
chr12	45927949	45927949	T	C	exonic	SCAF11	.	nonsynonymous SNV	SCAF11:NM_004719:exon11:c.A1752G:p.I584M,	.	.	427	1084	11	0	0	11	0.00504819	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.0	B	0.003	B	0.059	N	1.000	N	-1.1	N	2.18	T	-1.073	T	0.016	T	0.021	-1.628	0.013	0.443	-0.104	-1.465	0.793	0.026	.	0.0088	0.0217652	0.0122	0.0280	0.0017	0.0002	0	0.0001	0.0078	0.0702	0.0107631	1664	154602	rs115819509	0.0049	0.0049	0.0032	0.0067	0.0673	0.0048	0.0048	0.0658	0.0653	0.0250	0.0015	0	0.0002	0	0.0033	0.0001	0.0060	0.0673	0.0095	0.0095	0.0089	0.0100	0.0671	0.0091	0.0089	0.0611	0.0588	0.0251	0	0.0031	0	0.0004	0	0	0.0001	0.0085	0.0671	0.442	0.09209	T	0.208	0.26883	T	0.0	0.02946	B	0.0	0.08700	B	0.058550	0.02111	N	1.937410	1	0.08975	N	-0.405	0.02972	N	2.18	0.32482	T	0.13	0.05503	N	0.017	0.00226	-1.0732	0.08724	T	0.016	0.06521	T	10	0.0017840862	0.00023	T	.	.	.	0.026	0.05648	.	.	.	.	0.02304690031503445	0.02256	0.0387951833465	0.04126	0.288950115442	0.08769	T	0.013726	0.11817	T	-0.766228	0.00014	T	-0.822359	0.01405	T	0.000125627605866576	0.00001	T	0.120988	0.00936	T	0.019684823	0.00504	0.02960226	0.01317	0.019684823	0.00503	0.02960226	0.01317	-4.918	0.37228	T	.	.	0.064	0.02894	B	.;.;.	.;.;.	0.163401	0.05536	1.996	0.11982965123866747	0.00195	0.06019	0.11985	N	AEBI	0.036182	0.04780	N	-1.34877688052254	0.03138	0.1396774	-1.28459916255479	0.04638	0.2192344	0.0764610000498978	0.15728	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.45	0.443	0.15798	-1.587000	0.02211	2.144000	0.30864	-0.171000	0.11205	0.000000	0.06391	0.003000	0.18671	0.434000	0.27538	0.219:0.2968:0.1213:0.3628	0.793	0.00992	821	0.40814	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1601.98	114	chr12	45927949	.	T	C	1601.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=1610;ExcessHet=0.0000;FS=5.214;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=1.45;SOR=1.123	GT:AD:DP:GQ:PL	0/0:122,0:122:99:0,120,1800	20	0	1	0
chr12	45945300	45945300	C	T	exonic	SCAF11	.	nonsynonymous SNV	SCAF11:NM_004719:exon6:c.G412A:p.V138I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.001	B	0.0	B	0.368	N	1.000	N	0	N	1.09	T	-1.052	T	0.042	T	0.039	-0.455	1.894	-8.91	-1.713	-1.548	5.046	0.011	0.00120876141622	.	0.000599042	0.0001	0	0	0	0	1.503e-05	0	0.0010	0.0001358	21	154602	rs534626567	5.294e-05	6.773e-05	4.08e-05	6.517e-05	0.0008	4.326e-05	3.945e-05	0.0006	0.0006	6.434e-05	0	0	0	0	0	2.762e-06	0.0001	0.0008	4.598e-05	4.594e-05	2.571e-05	6.716e-05	0.0010	2.109e-05	1.526e-05	0.0004	0.0003	0	0	0	0	0	0	0	2.941e-05	0	0.0010	1.0	0.00964	T	0.84	0.03610	T	0.001	0.07471	B	0.0	0.01387	B	0.367883	0.04344	N	1.583750	1	0.08975	N	-1.495	0.00516	N	1.09	0.39223	T	-0.04	0.07590	N	0.015	0.00181	-1.0520	0.13845	T	0.042	0.18243	T	10	0.0047436357	0.00100	T	0.001209	0.01583	T	0.011	0.01250	0.361	0.36548	0.102598925029	0.09809	0.07729951556530386	0.07665	0.0335532273427	0.03518	0.33911126852	0.16305	T	0.010342	0.09344	T	-0.645679	0.00077	T	-0.765004	0.02936	T	0.0109039286994165	0.00156	T	0.29697	0.05508	T	0.011990448	0.00025	0.015935715	0.00011	0.011990448	0.00025	0.015935715	0.00011	-3.329	0.14113	T	.	.	0.071	0.03964	B	.	.	-0.730206	0.01253	0.064	0.4617525450084029	0.03679	0.00518	0.02416	N	AEFBI	0.015850	0.00323	N	-1.49686202412414	0.01872	0.08212549	-1.53727179278391	0.02065	0.09441442	0.999999606517583	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.11	-8.91	0.00669	-1.445000	0.02507	-3.078000	0.03081	-0.979000	0.01905	0.000000	0.06391	0.000000	0.08366	0.867000	0.41218	0.1127:0.4838:0.2289:0.1746	5.046	0.13823	860	0.33753	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1223.98	34	chr12	45945300	.	C	T	1223.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.920e-01;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-7.520e-01;SOR=0.682	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1340	20	0	1	0
chr12	45951697	45951697	G	C	exonic	SCAF11	.	nonsynonymous SNV	SCAF11:NM_004719:exon4:c.C250G:p.P84A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.963	D	0.901	P	0.000	U	1.000	D	1.53	L	1.02	T	-0.337	T	0.344	T	0.388	3.971	20.3	5.36	2.490	5.208	18.688	0.248	0.028721123035	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1179369829	6.945e-07	6.84e-07	0	1.397e-06	9.106e-07	0	0	.	.	0	0	0	0	0	0	9.106e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.024	0.56640	D	0.963	0.55692	D	0.901	0.63994	P	0.000433	0.44522	U	0.000000	0.544307	0.32080	D	2.425	0.70256	M	-0.2	0.66113	T	-2.52	0.54702	D	0.644	0.65587	-0.3366	0.73942	T	0.344	0.70964	T	10	0.3015812	0.47699	T	0.028721	0.51350	D	0.248	0.55615	0.435	0.48664	0.200294437569	0.19612	0.3270231377891425	0.32615	0.276772349952	0.30148	0.444420695305	0.31181	T	0.116806	0.43642	T	0.0208464	0.54496	T	-0.207832	0.53903	T	0.909056007862091	0.56383	D	0.850615	0.62654	D	0.107006624	0.25304	0.13772865	0.32912	0.107006624	0.25303	0.13772865	0.32911	-5.553	0.42361	T	.	.	0.173	0.37895	B	.;.	.;.	4.242243	0.64330	24.7	0.99535043783469823	0.70150	0.95376	0.64478	D	AEFBI	0.394724	0.47187	N	0.607475903463174	0.73647	6.000368	0.624945117206587	0.76756	6.550077	0.998714592417152	0.37518	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	5.493000	0.66618	8.679000	0.78037	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.688	0.91532	851	0.35303	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	299.98	33	chr12	45951697	.	G	C	299.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.139;DP=697;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.11;ReadPosRankSum=0.480;SOR=0.645	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,968	20	0	1	0
chr12	45961816	45961816	A	G	exonic	SCAF11	.	nonsynonymous SNV	SCAF11:NM_004719:exon3:c.T103C:p.Y35H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.99	D	0.946	D	0.121	U	1.000	D	0.975	L	0.94	T	-0.840	T	0.167	T	0.523	3.586	18.27	6.02	2.304	2.155	16.215	0.085	0.0186117900901	.	.	4.15e-05	0	0	0	0	7.507e-05	0	0	3.23e-05	5	154602	rs778363779	4.112e-06	4.104e-06	1.364e-06	6.889e-06	5.401e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.401e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.27544	T	0.23	0.25135	T	0.99	0.63424	D	0.946	0.68276	D	0.121219	0.19004	U	0.378139	0.63905	0.32859	D	2.24	0.63355	M	0.94	0.43672	T	-0.7	0.22508	N	0.372	0.41360	-0.8398	0.52660	T	0.167	0.50534	T	10	0.12791902	0.24330	T	0.018612	0.40730	T	0.085	0.24743	0.339	0.32979	0.263709349026	0.25991	0.31982954874550973	0.31895	0.303066624151	0.32629	0.518053591251	0.41351	T	0.051428	0.28876	T	-0.170211	0.25202	T	-0.351822	0.38996	T	0.488842517137527	0.32221	T	0.888211	0.63821	D	0.08408588	0.19445	0.06538289	0.13242	0.08408588	0.19445	0.06538289	0.13242	-2.871	0.08857	T	.	.	0.121	0.35498	B	.;.;.;.	.;.;.;.	3.547260	0.49846	22.8	0.9977603126713579	0.86346	0.91330	0.53316	D	AEFBI	0.138951	0.26039	N	0.125944599193813	0.47677	2.989964	0.240007618873142	0.52082	3.385618	0.999999999972034	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.02	6.02	0.97559	2.227000	0.42615	9.292000	0.79800	0.756000	0.94297	0.966000	0.33990	1.000000	0.68203	0.768000	0.36443	1.0:0.0:0.0:0.0	16.215	0.82031	866	0.32446	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1493.98	111	chr12	45961816	.	A	G	1493.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.890;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=0.524;SOR=0.743	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1268	20	0	1	0
chr12	47078725	47078725	G	A	exonic	AMIGO2	.	nonsynonymous SNV	AMIGO2:NM_181847:exon2:c.C278T:p.A93V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.0	B	0.0	B	0.143	N	1.000	N	0.73	N	4.35	T	-0.920	T	0.005	T	0.044	-0.732	0.872	-2.65	-0.520	0.180	1.662	0.011	0.00329339175713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	0.13566	T	0.297	0.20551	T	0.0	0.02946	B	0.0	0.01387	B	0.143263	0.02902	N	1.757900	1	0.08975	N	1.16	0.29674	L	4.35	0.02319	T	-0.58	0.17417	N	0.023	0.00571	-0.9197	0.45594	T	0.005	0.01833	T	10	0.0357289	0.01836	T	0.003293	0.07298	T	0.011	0.01250	0.443	0.49975	0.193917141947	0.19028	0.19532729245791014	0.19449	0.399366746743	0.40966	0.258934676647	0.04765	T	0.032971	0.22716	T	-0.37618	0.03293	T	-0.778133	0.02510	T	0.0633139386773109	0.07679	T	0.617538	0.23656	T	0.044194277	0.07020	0.033464987	0.02245	0.044194277	0.07020	0.033464987	0.02245	-3.39	0.14922	T	.	.	0.062	0.01600	B	.;.;.	.;.;.	0.885840	0.12589	9.119	0.83802129767418909	0.14928	0.05536	0.11429	N	AEFDGBCI	0.058539	0.10990	N	-1.30224784531831	0.03650	0.1634149	-1.35820744237327	0.03710	0.1736191	0.999999943040771	0.74766	0.660085	0.49399	0	0.563428	0.19063	0	0.673471	0.61138	0	0.651492	0.60203	0	.	.	3.94	-2.65	0.05739	0.204000	0.17133	1.783000	0.28733	-0.116000	0.14526	0.000000	0.06391	0.001000	0.17328	0.536000	0.29845	0.2607:0.1381:0.3886:0.2126	1.662	0.02626	648	0.63242	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2364.98	41	chr12	47078725	.	G	A	2364.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.212e+00;DP=1001;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.28;ReadPosRankSum=-3.066e+00;SOR=0.718	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr12	47235847	47235847	G	A	exonic	PCED1B	.	nonsynonymous SNV	PCED1B:NM_001281429:exon3:c.G784A:p.V262M	.	.	433	1085	4	0	0	4	0.00183993	.	.	2270837	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	0.987	D	0.502	P	0.971	U	1.000	N	0.895	L	1.44	T	-1.054	T	0.052	T	0.29	2.088	12.94	-0.273	-0.053	0.152	1.724	0.086	0.00825912795121	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs780152953	8.298e-05	8.551e-05	8.497e-05	8.094e-05	0.0084	7.06e-05	6.6e-05	0.0065	0.0058	3.091e-05	0.0003	0	0	0	0.0084	4.486e-05	0.0001	2.43e-05	9.198e-05	9.187e-05	0.0001	8.065e-05	0.0004	5.527e-05	4.364e-05	0.0002	0.0001	2.408e-05	0	0.0004	0	0	0	0.0034	5.881e-05	0.0009	0	0.064	0.36509	T	0.232	0.25135	T	0.987	0.61912	D	0.502	0.47702	P	0.970756	0.07776	U	1.019440	1	0.08975	N	1.795	0.47270	L	1.44	0.32722	T	-1.02	0.29933	N	0.227	0.25499	-1.0540	0.13305	T	0.052	0.22076	T	10	0.10412532	0.19179	T	0.008259	0.21878	T	0.086	0.25016	.	.	0.300110245524	0.29617	0.23433895302625782	0.23348	0.803344644737	0.66354	0.465712577105	0.34093	T	0.037637	0.24548	T	-0.394647	0.02509	T	-0.53036	0.19251	T	0.147927775979042	0.16938	T	0.381962	0.09853	T	0.04193176	0.06268	0.046587344	0.06527	0.04193176	0.06267	0.046587344	0.06526	-4.909	0.35836	T	.	.	0.138	0.40586	B	.;.;.	.;.;.	1.560589	0.19993	14.54	0.99236103890295091	0.56373	0.03144	0.08103	N	AEFDBHI	0.046547	0.07742	N	-0.5715948964393	0.19811	1.039816	-0.763558132329094	0.15390	0.8091518	0.998147090269005	0.36487	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.04	-0.273	0.12276	0.415000	0.20901	-0.494000	0.08842	0.586000	0.30580	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1094:0.1987:0.3228:0.3692	1.724	0.02742	774	0.48577	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1799.98	46	chr12	47235847	.	G	A	1799.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=887;ExcessHet=0.0000;FS=6.977;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.13;ReadPosRankSum=-1.300e+00;SOR=0.917	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr12	47670108	47670108	G	T	exonic	RPAP3	.	nonsynonymous SNV	RPAP3:NM_001146075:exon12:c.C1423A:p.Q475K	.	.	427	1094	1	0	0	1	0.00045683	0.0009	0.14	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9	T	0.089	B	0.029	B	0.040	N	1.000	N	1.5	L	3.08	T	-0.848	T	0.040	T	0.186	1.959	12.51	4.95	1.463	3.295	14.095	0.107	0.0107318389037	.	.	1.653e-05	0	0	0	0	1.502e-05	0	6.13e-05	1.29e-05	2	154602	rs766133338	6.419e-06	1.439e-05	2.854e-06	9.983e-06	4.708e-05	3.02e-06	2.19e-06	1.599e-05	9.41e-06	0	0	0	0	0	0	3.782e-06	1.712e-05	4.708e-05	6.57e-06	6.567e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.374	0.14645	T	0.642	0.06925	T	0.054	0.25085	B	0.013	0.21540	B	0.040329	0.01876	N	1.859290	0.999999	0.08975	N	1.78	0.46185	L	3.03	0.12988	T	-0.42	0.16799	N	0.124	0.16168	-0.8476	0.52134	T	0.040	0.17149	T	10	0.109948516	0.20531	T	0.010732	0.27599	T	0.107	0.30369	0.266	0.21261	0.134241683229	0.13084	0.14642501328835972	0.14564	0.0777069865228	0.08742	0.231868594885	0.02110	T	0.01993	0.15785	T	-0.30653	0.08057	T	-0.577456	0.14772	T	0.169423073530197	0.18541	T	0.588241	0.23564	T	0.098502	0.23234	0.0638515	0.12709	0.098502	0.23233	0.0638515	0.12709	-3.11	0.12751	T	.	.	0.070	0.04198	B	.;.;.	.;.;.	1.620149	0.20694	14.87	0.76972510375552894	0.11684	0.93267	0.57762	D	AEFBI	0.230095	0.35352	N	-0.474156207423419	0.22929	1.227796	-0.374929013944887	0.25746	1.418	0.428440537077697	0.20350	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.84	4.95	0.64894	2.362000	0.43823	7.402000	0.58581	0.676000	0.76740	0.392000	0.26104	0.999000	0.35428	0.484000	0.28656	0.0:0.1507:0.8493:0.0	14.095	0.64540	895	0.25842	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	865.98	35	chr12	47670108	.	G	T	865.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.690e-01;DP=774;ExcessHet=0.0000;FS=2.939;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.73;ReadPosRankSum=0.354;SOR=1.061	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr12	47789823	47789823	C	T	exonic	HDAC7	.	nonsynonymous SNV	HDAC7:NM_001098416:exon16:c.G1970A:p.R657H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.768	P	0.000	D	1.000	D	1.295	L	-0.49	T	-0.710	T	0.279	T	0.476	4.807	27.2	5.44	2.737	6.090	18.274	0.105	0.0309904289614	0.0003	.	0.0002	0	0	0	0.0003	0.0002	0	6.063e-05	0.0001294	20	154602	rs200899015	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	9.206e-05	8.615e-05	0	2.236e-05	0.0023	0	0.0002	0.0002	0.0001	0.0003	5.797e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	0	0	0.0001	0.0014	0	0.0002	0	0.0003	0.0005	0	0.006	0.68238	D	0.007	0.69154	D	0.997	0.73220	D	0.625	0.56752	P	0.000001	0.84330	D	0.053061	0.999999	0.58761	D	1.27	0.32069	L	-0.49	0.70365	T	-1.66	0.41618	N	0.32	0.37405	-0.7103	0.59937	T	0.279	0.65099	T	10	0.054855883	0.05904	T	0.03099	0.53176	D	0.357	0.67782	.	.	0.556605298633	0.55320	0.7885768057275826	0.78809	1.61834407415	0.89032	0.635295987129	0.57895	T	0.309725	0.68173	T	-0.236607	0.15786	T	-0.186759	0.55893	T	0.112326038933547	0.13663	T	0.959604	0.84889	D	0.5569782	0.70343	0.36651635	0.61979	0.5569782	0.70344	0.36651635	0.61979	-8.979	0.67562	D	.	.	0.108	0.20469	B	.;.;.;.;.	.;.;.;.;.	4.569288	0.72080	25.8	0.99939399527481831	0.99734	0.98319	0.81588	D	AEFDGBCI	0.800770	0.72666	D	0.381848852457408	0.60438	4.232766	0.471086893626417	0.66082	4.905983	0.999999999999942	0.74766	0.743674	0.98306	0	0.630245	0.54622	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.44	5.44	0.79348	6.172000	0.71841	1.832000	0.29123	0.599000	0.40250	0.819000	0.29975	0.842000	0.27309	0.980000	0.58198	0.0:1.0:0.0:0.0	18.274	0.90017	889	0.27310	.;.;.;Histone deacetylase domain;Histone deacetylase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2125.98	35	chr12	47789823	.	C	T	2125.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.82;DP=923;ExcessHet=0.0000;FS=1.130;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.19;ReadPosRankSum=-1.107e+00;SOR=0.627	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1326	20	0	1	0
chr12	47857605	47857605	G	A	exonic	VDR	.	nonsynonymous SNV	VDR:NM_001374662:exon4:c.C361T:p.R121W	Rickets, vitamin D-resistant, type IIA, Autosomal recessive	.	0	1516	5	1	0	7	0.00230339	.	.	948026	Vitamin_D-dependent_rickets_type_II_with_alopecia|not_provided	MONDO:MONDO:0010186,MedGen:C0342646,OMIM:277440,Orphanet:93160|MedGen:CN517202	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.951	D	0.129	N	0.997	D	1.495	L	-2.84	D	0.597	D	0.807	D	0.455	3.917	19.92	0.417	0.304	1.960	11.800	0.580	0.325836657538	.	.	4.118e-05	0	0	0	0	7.492e-05	0	0	3.23e-05	5	154602	rs752590757	3.557e-05	3.625e-05	3.267e-05	3.85e-05	0.0001	2.762e-05	2.501e-05	4.358e-05	2.767e-05	0	0.0001	0	5.038e-05	0	0	3.777e-05	4.967e-05	0	3.285e-05	3.283e-05	3.854e-05	2.69e-05	6.546e-05	1.261e-05	7.98e-06	8e-06	2.99e-06	4.826e-05	0	6.546e-05	0	0	0	0	2.94e-05	0	0	0.017	0.51248	D	0.018	0.60337	D	0.989	0.62824	D	0.757	0.56292	P	0.128672	0.18722	N	0.561412	0.996856	0.43461	D	2.51	0.73131	M	-3.28	0.93740	D	-2.16	0.57920	N	0.392	0.43995	0.597	0.91860	D	0.807	0.93475	D	10	0.39870116	0.55413	T	0.325837	0.91609	D	0.580	0.83081	0.437	0.48993	0.956658417571	0.95619	0.827028563576721	0.82660	1.19889385276	0.80480	0.523891448975	0.42174	T	0.739	0.92741	D	0.000928331	0.51783	T	-0.0387999	0.67782	D	0.386347621679306	0.28426	T	0.963804	0.87188	D	0.36107057	0.57917	0.20850997	0.45157	0.36107057	0.57918	0.20850997	0.45156	-12.31	0.86782	D	.	.	0.160	0.47773	B	.;.;.;.;.	.;.;.;.;.	4.744069	0.76536	26.5	0.99910818914674959	0.98022	0.82404	0.41637	D	AEFBHCI	0.794269	0.72202	D	0.207410622176264	0.51557	3.336041	0.134714871102029	0.46336	2.881331	0.781063203533406	0.23844	0.706298	0.61202	0	0.709663	0.81188	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	4.44	0.417	0.15639	1.950000	0.39948	3.472000	0.38588	0.614000	0.49286	0.980000	0.35271	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.2837:0.7162	11.800	0.51394	884	0.28482	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1329.98	36	chr12	47857605	.	G	A	1329.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.369;DP=780;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.46;ReadPosRankSum=-1.057e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1231	20	0	1	0
chr12	47966220	47966220	T	G	exonic	TMEM106C	.	nonsynonymous SNV	TMEM106C:NM_001143842:exon5:c.T543G:p.S181R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.977	D	0.000	D	1.000	D	2.28	M	1.85	T	-1.022	T	0.124	T	0.719	3.472	17.77	-0.148	-0.025	-0.984	8.435	0.308	0.0120936793697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.91255	D	0.057	0.92824	T	0.999	0.77913	D	0.977	0.73820	D	0.000000	0.84330	D	0.045953	0.999657	0.81001	D	2.85	0.82803	M	1.85	0.25996	T	-2.71	0.79060	D	0.301	0.34228	-1.0218	0.23129	T	0.124	0.42778	T	9	0.33430776	0.50607	T	0.012094	0.30348	T	0.308	0.62947	0.591	0.71999	0.351180957027	0.34734	0.771240959969999	0.77074	0.267977626599	0.29332	0.438017308712	0.30306	T	0.011461	0.10219	T	0.0255337	0.55126	T	-0.201099	0.54542	T	0.990225493907928	0.80441	D	0.710329	0.32115	T	0.46491715	0.64977	0.2669237	0.52543	0.46491715	0.64978	0.2669237	0.52542	-6.645	0.51395	T	.	.	0.448	0.63362	A	.;.;.;.	.;.;.;.	1.915164	0.24327	16.35	0.99754013113270523	0.84460	0.35628	0.25346	N	AEFGBI	.	.	.	-0.00621620332576345	0.41572	2.489092	-0.176533051842724	0.32402	1.843062	0.999904446809915	0.45458	0.744818	0.98587	0	0.732433	0.95613	0	0.693144	0.63139	0	0.714379	0.83352	0	.	.	4.17	-0.148	0.12767	-0.865000	0.04358	-3.236000	0.02946	0.665000	0.62972	0.108000	0.22953	0.000000	0.08366	0.997000	0.79791	0.0:0.339:0.0:0.661	8.435	0.31943	705	0.57330	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1491.98	49	chr12	47966220	.	T	G	1491.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.490e-01;DP=914;ExcessHet=0.0000;FS=0.646;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.39;ReadPosRankSum=-1.500e-01;SOR=0.760	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr12	47978057	47978057	C	A	exonic	COL2A1	.	nonsynonymous SNV	COL2A1:NM_033150:exon43:c.G2857T:p.V953L	Achondrogenesis, type II or hypochondrogenesis, Autosomal dominant;Avascular necrosis of the femoral head, Autosomal dominant;Czech dysplasia, Autosomal dominant;Epiphyseal dysplasia, multiple, with myopia and deafness, Autosomal dominant;Kniest dysplasia, Autosomal dominant;Legg-Calve-Perthes disease, Autosomal dominant;Osteoarthritis with mild chondrodysplasia, Autosomal dominant;Otospondylomegaepiphyseal dysplasia, Autosomal recessive;Platyspondylic skeletal dysplasia, Torrance type, Autosomal dominant;SED congenita, Autosomal dominant;SMED Strudwick type, Autosomal dominant;Spondyloepiphyseal dysplasia, Stanescu type, Autosomal dominant;Spondyloperipheral dysplasia, Autosomal dominant;Stickler sydrome, type I, nonsyndromic ocular, Autosomal dominant;Stickler syndrome, type I, Autosomal dominant;Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)	YES	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.492	P	0.23	B	0.000	D	1.000	D	1.12	L	-3.19	D	0.455	D	0.709	D	0.471	3.883	19.73	5.39	2.517	2.185	17.932	0.418	0.0734176801487	.	.	8.543e-06	0	0	0	0	0	0	6.21e-05	1.29e-05	2	154602	rs199642249	2.737e-06	2.736e-06	1.362e-06	4.126e-06	0.0002	6.4e-07	4.3e-07	.	.	0	0	0	0	0	0.0002	0	3.312e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.31	0.22223	T	0.36	0.36976	B	0.161	0.38212	B	0.000001	0.62929	D	0.000000	0.999997	0.58761	D	1.145	0.29067	L	-3.19	0.93170	D	-1.5	0.37375	N	0.452	0.50868	0.455	0.89901	D	0.709	0.89980	D	10	0.43403444	0.57676	T	0.073418	0.71785	D	0.418	0.72780	0.355	0.35571	0.785298969826	0.78331	0.5170034956118461	0.51623	0.309757753492	0.33285	0.680987119675	0.64410	T	0.414235	0.76786	T	0.0634064	0.60039	T	-0.0460675	0.67291	D	0.535954537824837	0.33954	D	0.652935	0.26315	T	0.46143055	0.64760	0.2552888	0.51209	0.46143055	0.64761	0.2552888	0.51208	-4.651	0.33295	T	0.18814781869959546	0.24559	0.248	0.48272	B	.;.	.;.	4.281684	0.65228	24.8	0.99357183468452148	0.60862	0.94590	0.61662	D	AEFDBI	0.704479	0.66018	D	0.128224121499909	0.47782	2.999228	0.26008128902079	0.53223	3.492506	0.999996889514067	0.74766	0.833774	0.99917	0	0.610034	0.51514	0	0.0	0.00061	3	0.564101	0.26826	0	.	.	5.39	5.39	0.77615	4.157000	0.57925	6.015000	0.52706	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	17.932	0.88919	631	0.64944	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1487.98	33	chr12	47978057	.	C	A	1487.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=803;ExcessHet=0.0000;FS=0.818;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.53;ReadPosRankSum=0.824;SOR=0.854	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1248	20	0	1	0
chr12	48074492	48074492	T	C	exonic	SENP1	.	nonsynonymous SNV	SENP1:NM_001267594:exon8:c.A772G:p.I258V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.002	B	0.003	B	0.070	N	1.000	D	0.55	N	2.54	T	-0.976	T	0.017	T	0.037	0.110	4.594	1.01	0.077	0.020	4.834	0.035	0.00152037478945	.	.	1.657e-05	0	0	0.0001	0	0	0.0011	0	1.29e-05	2	154602	rs745761476	1.026e-05	1.026e-05	6.807e-06	1.375e-05	0.0003	6.16e-06	4.89e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	5.396e-06	3.313e-05	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.511	0.07497	T	0.51	0.10821	T	0.001	0.09854	B	0.001	0.08700	B	0.070086	0.21562	N	0.440276	1	0.81001	D	1.935	0.51832	L	2.54	0.13916	T	0.09	0.06138	N	0.063	0.03502	-0.9755	0.36015	T	0.017	0.06902	T	10	0.035245	0.01764	T	0.00152	0.02369	T	0.035	0.08770	0.23	0.15705	0.21174354426	0.20776	0.1468507035056895	0.14607	.	.	0.370079100132	0.20844	T	0.054174	0.29650	T	-0.526233	0.00404	T	-0.757005	0.03221	T	0.026105194603126	0.01420	T	0.60094	0.22456	T	0.013277736	0.00054	0.023983514	0.00413	0.013277736	0.00054	0.023983514	0.00413	-2.554	0.06161	T	.	.	0.060	0.02670	B	.;.;.	.;.;.	0.881135	0.12544	9.072	0.58173577567797863	0.05933	0.56985	0.30258	D	AEDGBIJ	0.085622	0.17358	N	-0.731727795187249	0.15133	0.7600618	-0.572143019622009	0.20220	1.088429	0.00311413983052615	0.09935	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.84	1.01	0.19044	-0.073000	0.11428	0.466000	0.18665	-0.119000	0.14319	0.989000	0.36753	0.999000	0.35428	0.997000	0.79791	0.0:0.2479:0.1518:0.6004	4.834	0.12818	496	0.76301	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1445.98	44	chr12	48074492	.	T	C	1445.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.427e+00;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=1.61;SOR=0.773	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1243	20	0	1	0
chr12	48088943	48088943	T	C	exonic	SENP1	.	nonsynonymous SNV	SENP1:NM_001267594:exon5:c.A238G:p.S80G	.	.	429	1056	37	0	0	37	0.0172173	.	.	702319	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	0.03	B	0.055	B	0.001	D	1.000	D	0.55	N	2.38	T	-1.090	T	0.024	T	0.136	2.862	15.53	5.31	2.148	4.671	14.545	0.048	.	0.0039	0.00299521	0.0092	0.0005	0.0027	0.0003	0.0343	0.0101	0.0171	0.0060	0.0054527	843	154602	rs112688170	0.0050	0.0050	0.0049	0.0051	0.0210	0.0049	0.0049	0.0179	0.0168	0.0007	0.0018	0.0345	2.572e-05	0.0284	0.0210	0.0035	0.0067	0.0045	0.0053	0.0053	0.0045	0.0062	0.0043	0.0050	0.0049	0.0039	0.0038	0.0005	0.0077	0.0024	0.0326	0.0002	0.0300	0.0170	0.0043	0.0028	0.0021	0.004	0.65419	D	0.202	0.27414	T	0.018	0.20002	B	0.025	0.25995	B	0.000851	0.41440	D	0.194749	1	0.81001	D	0.805	0.20218	L	2.38	0.15843	T	-0.97	0.56144	N	0.256	0.29313	-1.0899	0.05549	T	0.024	0.10419	T	10	0.0037702918	0.00070	T	.	.	.	0.048	0.13305	.	.	0.338449385132	0.33456	0.28745014231400146	0.28658	.	.	0.442630141973	0.30936	T	0.10795	0.42057	T	-0.554129	0.00275	T	-0.566132	0.15806	T	0.019706397154617	0.00672	T	0.780822	0.41560	T	0.121635914	0.28599	0.12576467	0.30298	0.121635914	0.28599	0.12576467	0.30297	-4.725	0.33705	T	.	.	0.085	0.17488	B	.;.;.;.	.;.;.;.	3.339620	0.46013	22.2	0.99198206286095336	0.55201	0.98662	0.85282	D	AEFBI	0.565628	0.57194	D	-0.0592072060781748	0.39192	2.307282	0.143442539337478	0.46794	2.919761	0.984952414377167	0.30802	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	4.666000	0.61248	5.086000	0.47311	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.545	0.67616	497	0.76227	.;.;.;.	.	.	.	.	rs112688170	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	395.98	34	chr12	48088943	.	T	C	395.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.112;DP=742;ExcessHet=0.0000;FS=1.184;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.61;ReadPosRankSum=-1.910e-01;SOR=0.929	GT:AD:DP:GQ:PL	0/0:36,0:36:90:0,90,1350	20	0	1	0
chr12	48202940	48202940	A	G	exonic	OR10AD1	.	nonsynonymous SNV	OR10AD1:NM_001004134:exon1:c.T353C:p.F118S,	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.985	D	0.715	P	0.001	N	0.552	N	0.205	N	5.6	T	-0.797	T	0.004	T	0.534	2.743	15.13	3.69	0.972	0.931	9.009	0.153	0.0169943809679	.	.	8.281e-06	0	0	0	0	1.504e-05	0	0	6.5e-06	1	154602	rs759278693	2.227e-05	2.227e-05	2.096e-05	2.336e-05	0.0005	1.292e-05	1.01e-05	8.493e-05	3.538e-05	0.0001	0	0	0	0	0.0005	2.285e-05	0	2.866e-05	1.314e-05	1.313e-05	1.284e-05	1.344e-05	6.542e-05	2.18e-06	8.2e-07	.	.	0	0	6.542e-05	0	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.014	0.62352	D	0.985	0.61118	D	0.715	0.54683	P	0.001247	0.39669	N	0.000000	0.551912	0.31327	N	-0.335	0.03518	N	5.6	0.00825	T	-0.9	0.24244	N	0.198	0.21839	-0.7969	0.55327	T	0.004	0.01261	T	10	0.12614888	0.23979	T	0.016994	0.38500	T	0.153	0.40148	0.323	0.30387	0.271763555656	0.26798	0.2613715487618697	0.26050	0.0383716600576	0.04084	0.27053463459	0.06211	T	0.001695	0.01120	T	-0.179166	0.23861	T	-0.47965	0.24482	T	0.244937390089035	0.22645	T	0.562144	0.19728	T	0.2536063	0.48383	0.1780116	0.40442	0.2536063	0.48383	0.1780116	0.40441	-3.045	0.10674	T	.	.	0.318	0.54331	B	.	.	2.914807	0.38680	20.8	0.99738645767050738	0.83337	0.30817	0.24180	N	AEFDBCI	0.136218	0.25681	N	-0.288809631067892	0.29580	1.641606	-0.317156409139883	0.27544	1.529157	0.231608223227256	0.18471	0.497415	0.19182	0	0.514364	0.08380	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	4.83	3.69	0.41483	0.776000	0.26365	4.186000	0.42370	-0.066000	0.16423	0.000000	0.06391	0.998000	0.33993	0.909000	0.44452	0.9109:0.0:0.0891:0.0	9.009	0.35291	736	0.53558	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1899.98	155	chr12	48202940	.	A	G	1899.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.760e-01;DP=1265;ExcessHet=0.0000;FS=0.592;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=-1.657e+00;SOR=0.622	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1206	20	0	1	0
chr12	48202959	48202959	C	T	exonic	OR10AD1	.	nonsynonymous SNV	OR10AD1:NM_001004134:exon1:c.G334A:p.E112K,	.	.	426	1087	8	1	0	10	0.00457875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.036	B	0.008	B	0.001	N	0.641	D	3.15	M	4.42	T	-1.142	T	0.015	T	0.3	1.231	9.990	3.03	0.776	2.747	10.076	0.110	0.0130829676447	0.0009	0.000599042	0.0007	0.0014	0.0003	0	0.0003	0.0006	0.0011	0.0016	0.0006921	107	154602	rs139287640	0.0006	0.0006	0.0005	0.0007	0.0063	0.0005	0.0005	0.0044	0.0038	0.0014	0.0004	0	0	0.0002	0.0063	0.0005	0.0006	0.0013	0.0009	0.0009	0.0010	0.0008	0.0019	0.0008	0.0007	0.0013	0.0012	0.0016	0	0.0008	0	0	0	0	0.0006	0.0024	0.0019	0.011	0.55530	D	0.018	0.59732	D	0.036	0.20732	B	0.008	0.13708	B	0.001369	0.39242	N	0.000000	0.640719	0.32873	D	2.79	0.81396	M	4.42	0.02177	T	-3.71	0.70674	D	0.296	0.33469	-1.1424	0.01271	T	0.015	0.06234	T	10	0.019116491	0.00423	T	0.013083	0.32199	T	0.110	0.31079	.	.	0.509583022956	0.50597	0.5561287259014127	0.55539	0.0289611678545	0.02984	0.241896286607	0.02963	T	0.010823	0.09734	T	-0.509294	0.00507	T	-0.523356	0.19955	T	0.0526913534350067	0.05966	T	0.642236	0.25428	T	0.45900226	0.64609	0.44578376	0.67714	0.45900226	0.64609	0.44578376	0.67715	-7.974	0.60892	D	.	.	0.317	0.54309	B	.	.	0.954667	0.13308	9.812	0.98544171865697927	0.42757	0.92933	0.56905	D	AEFDBCI	0.397452	0.47352	N	-0.48566313691321	0.22550	1.204859	-0.481073721941947	0.22675	1.232808	0.794603398362657	0.24076	0.497415	0.19182	0	0.514364	0.08380	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	4.83	3.03	0.34070	1.559000	0.35928	-0.073000	0.12273	-0.843000	0.02775	0.492000	0.26894	0.000000	0.08366	0.033000	0.13494	0.0:0.8457:0.0:0.1543	10.076	0.41535	736	0.53558	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2025.98	37	chr12	48202959	.	C	T	2025.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.68;DP=1255;ExcessHet=0.0000;FS=2.131;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.47;ReadPosRankSum=-1.749e+00;SOR=0.718	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1206	20	0	1	0
chr12	48203268	48203268	T	G	exonic	OR10AD1	.	nonsynonymous SNV	OR10AD1:NM_001004134:exon1:c.A25C:p.T9P,	.	.	431	1057	34	0	0	34	0.0158287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.534	P	0.143	B	0.041	N	1.000	N	2.17	M	4.4	T	-0.955	T	0.006	T	0.562	0.651	7.493	1.73	0.427	1.755	3.208	0.090	.	0.0038	0.00299521	0.0065	0.0004	0.0020	0.0001	0.0260	0.0072	0.0178	0.0054	0.0058408	903	154602	rs112948514	0.0073	0.0073	0.0073	0.0073	0.0154	0.0071	0.0071	0.0124	0.0113	0.0006	0.0018	0.0340	2.773e-05	0.0274	0.0154	0.0047	0.0082	0.0049	0.0052	0.0052	0.0044	0.0061	0.0043	0.0049	0.0048	0.0039	0.0037	0.0005	0.0077	0.0018	0.0323	0.0002	0.0292	0.0170	0.0043	0.0028	0.0031	0.004	0.65419	D	0.029	0.54541	D	0.534	0.37787	P	0.143	0.33763	B	0.041180	0.23978	N	0.207594	1	0.08975	N	1.685	0.43254	L	4.4	0.02215	T	-3.22	0.64939	D	0.395	0.43610	-0.9549	0.40114	T	0.006	0.01944	T	10	0.004396379	0.00089	T	.	.	.	0.090	0.26093	.	.	0.29132392195	0.28731	0.3578521323055992	0.35699	0.0986389603971	0.11146	0.284889936447	0.08183	T	0.018115	0.14658	T	-0.471763	0.00829	T	-0.447819	0.27938	T	0.0196901589367616	0.00671	T	0.506749	0.16047	T	0.28944045	0.51940	0.40771738	0.65109	0.28944045	0.51940	0.40771738	0.65109	-8.131	0.61959	D	.	.	0.137	0.29914	B	.	.	1.241742	0.16376	12.50	0.95192574500094318	0.26377	0.39853	0.26306	N	AEFBCI	0.339312	0.43650	N	-0.503047978824176	0.21981	1.170499	-0.618759201248743	0.19011	1.018176	0.0338251342059499	0.14124	0.497415	0.19182	0	0.514364	0.08380	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.36	1.73	0.23565	0.839000	0.27239	-0.234000	0.10651	0.645000	0.52629	0.003000	0.16062	0.000000	0.08366	0.009000	0.08673	0.1739:0.1855:0.0:0.6406	3.208	0.06275	736	0.53558	.	.	.	.	.	rs112948514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	951.98	37	chr12	48203268	.	T	G	951.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.895;DP=877;ExcessHet=0.0000;FS=3.339;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.20;ReadPosRankSum=0.462;SOR=1.140	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485	20	0	1	0
chr12	49106569	49106569	T	C	exonic	LMBR1L	.	nonsynonymous SNV	LMBR1L:NM_001300750:exon3:c.A118G:p.T40A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.0	B	0.001	B	.	.	1.000	N	.	.	0.94	T	-1.023	T	0.073	T	0.062	3.291	17.05	-1.36	-0.399	-0.066	9.190	0.021	0.000704598084243	.	0.000199681	0.0004	0	0	0	0	0	0	0.0013	7.12e-05	11	154602	rs548454864	3.955e-05	3.147e-05	1.181e-05	6.836e-05	0.0006	3.031e-05	2.711e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0.0006	1.975e-05	1.97e-05	1.287e-05	2.694e-05	0.0006	5.25e-06	2.46e-06	0.0002	9.036e-05	0	0	0	0	0	0	0	0	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1127.98	34	chr12	49106569	.	T	C	1127.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=779;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.27;ReadPosRankSum=1.39;SOR=0.660	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1188	20	0	1	0
chr12	49330881	49330881	C	T	exonic	TROAP	.	nonsynonymous SNV	TROAP:NM_005480:exon13:c.C2036T:p.P679L,	.	.	414	1068	39	1	0	41	0.0188333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.993	D	0.608	P	0.002	N	1.000	D	1.495	L	.	.	-0.616	T	0.171	T	0.5	3.710	18.84	4.78	1.395	2.346	10.245	0.171	.	0.0012	0.00279553	0.0033	9.705e-05	0.0003	0	0	0.0016	0.0077	0.0171	0.0029042	449	154602	rs151202383	0.0023	0.0023	0.0018	0.0027	0.0164	0.0022	0.0022	0.0157	0.0154	0.0002	0.0005	7.66e-05	0	7.651e-05	0.0132	0.0015	0.0024	0.0164	0.0012	0.0012	0.0011	0.0013	0.0112	0.0011	0.0010	0.0088	0.0080	0.0003	0	0.0003	0	0.0002	0	0.0204	0.0015	0.0024	0.0112	0.002	0.72154	D	0.002	0.92824	D	0.993	0.65571	D	0.608	0.51027	P	0.002031	0.37411	N	0.119814	0.792242	0.34401	D	2.255	0.64187	M	.	.	.	-5.07	0.82830	D	0.491	0.57518	-0.6156	0.64172	T	0.171	0.51293	T	9	0.0036646128	0.00067	T	.	.	.	0.171	0.43483	.	.	0.358540694251	0.35469	0.5002058081100541	0.49941	0.724235548467	0.62377	0.354177832603	0.18535	T	0.13271	0.46296	T	-0.302781	0.08399	T	-0.194727	0.55145	T	0.0593209418376601	0.07061	T	0.845915	0.52533	T	0.16959953	0.37486	0.17775902	0.40399	0.16959953	0.37486	0.17775902	0.40398	-4.074	0.24905	T	.	.	0.287	0.51951	B	.;.;.	.;.;.	3.944180	0.57739	23.9	0.99772410723977034	0.86003	0.22307	0.21702	N	AEFDGBCI	0.122227	0.23727	N	0.0927473183184727	0.46124	2.857777	0.0424489785806869	0.41708	2.510312	0.999999947508023	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.67	4.78	0.60666	2.432000	0.44442	3.939000	0.40590	0.599000	0.40250	0.027000	0.20232	0.992000	0.31684	0.990000	0.65344	0.0:0.91:0.0:0.09	10.245	0.42516	201	0.92177	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1971.98	33	chr12	49330881	.	C	T	1971.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.40;DP=1354;ExcessHet=0.0000;FS=1.983;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.25;ReadPosRankSum=0.889;SOR=0.520	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1385	20	0	1	0
chr12	49490690	49490690	A	G	exonic	SPATS2	.	nonsynonymous SNV	SPATS2:NM_001293286:exon5:c.A223G:p.S75G	.	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.104	B	0.039	B	0.011	N	1.000	D	0.895	L	.	.	-0.947	T	0.101	T	0.167	3.310	17.13	5.24	1.974	4.668	11.547	0.034	0.00210480452853	0.0027	0.00179712	0.0036	0.0006	0.0010	0	0.0080	0.0055	0.0044	0	0.0037128	574	154602	rs142230440	0.0039	0.0039	0.0040	0.0038	0.0044	0.0038	0.0038	0.0043	0.0043	0.0007	0.0010	0.0015	2.52e-05	0.0082	0.0033	0.0044	0.0034	0.0001	0.0031	0.0031	0.0030	0.0032	0.0047	0.0029	0.0028	0.0043	0.0041	0.0008	0	0.0007	0.0012	0	0.0083	0.0102	0.0047	0.0043	0.0002	0.081	0.61437	T	0.008	0.69154	D	0.104	0.25941	B	0.039	0.23607	B	0.010698	0.29823	N	0.364000	0.993484	0.23703	N	2.075	0.57047	M	.	.	.	-2.39	0.52612	N	0.297	0.33578	-0.9468	0.41515	T	0.101	0.37417	T	9	0.008061707	0.00183	T	0.002105	0.03882	T	0.034	0.08419	.	.	0.0934897674506	0.08844	0.13054203920872406	0.12979	0.312050624539	0.33506	0.51364928484	0.40733	T	0.080878	0.36467	T	-0.412415	0.01916	T	-0.355787	0.38541	T	0.0228098507062631	0.01002	T	0.568443	0.20183	T	0.14220098	0.32735	0.12549326	0.30237	0.14220098	0.32735	0.12549326	0.30236	-7.307	0.56246	T	.	.	0.069	0.06069	B	.;.;.;.	.;.;.;.	2.906392	0.38538	20.8	0.99462541440358387	0.65892	0.81429	0.40834	D	AEFBI	0.170981	0.29792	N	-0.0108968494486665	0.41361	2.472638	0.167421080392501	0.48072	3.028208	0.999983341207761	0.51787	0.744818	0.98587	0	0.732433	0.95613	0	0.709663	0.75317	0	0.723	0.93126	0	.	.	5.24	5.24	0.72863	4.785000	0.62110	5.375000	0.48439	0.677000	0.82338	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	11.547	0.49955	173	0.93306	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	350.98	33	chr12	49490690	.	A	G	350.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.160e-01;DP=748;ExcessHet=0.0000;FS=4.575;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.77;ReadPosRankSum=-9.700e-02;SOR=1.164	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1138	20	0	1	0
chr12	49526118	49526118	G	A	exonic	SPATS2	.	nonsynonymous SNV	SPATS2:NM_001293286:exon13:c.G1501A:p.E501K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.22	B	0.086	B	0.119	N	1.000	D	0.895	L	.	.	-0.920	T	0.145	T	0.565	1.939	12.44	4.68	2.631	3.148	15.553	0.121	0.0039276826564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.313	0.19539	T	0.22	0.30288	B	0.086	0.29521	B	0.119352	0.19077	N	0.520709	0.752723	0.33947	D	2.045	0.56016	M	.	.	.	-0.17	0.09627	N	0.18	0.21449	-0.9201	0.45540	T	0.145	0.46786	T	9	0.14702287	0.27864	T	0.003928	0.09274	T	0.121	0.33580	0.341	0.33302	0.082315109003	0.07666	0.09705305921740368	0.09636	0.280192948773	0.30498	0.453103631735	0.32368	T	0.003058	0.02464	T	0.0104262	0.53082	T	-0.2228	0.52467	T	0.282663188864311	0.24283	T	0.823718	0.48487	T	0.08401658	0.19429	0.07468699	0.16365	0.08401658	0.19428	0.07468699	0.16364	-3.269	0.13340	T	.	.	0.091	0.12938	B	.;.;.	.;.;.	2.554513	0.33071	19.23	0.99492609705563784	0.67516	0.83603	0.42709	D	AEFGBI	0.216697	0.34191	N	-0.231254894628895	0.31856	1.79062	-0.157036351019673	0.33138	1.892527	0.99808333825658	0.36406	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.68	4.68	0.58319	3.199000	0.50745	9.864000	0.82078	0.618000	0.50648	0.829000	0.30118	1.000000	0.68203	0.169000	0.20946	0.0:0.0:1.0:0.0	15.553	0.75908	170	0.93412	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1591.98	33	chr12	49526118	.	G	A	1591.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.199;DP=854;ExcessHet=0.0000;FS=1.304;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=-1.868e+00;SOR=0.813	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1281	20	0	1	0
chr12	49587661	49587661	G	A	exonic	FAM186B	.	nonsynonymous SNV	FAM186B:NM_032130:exon7:c.C2626T:p.R876W,	.	.	426	1093	3	0	0	3	0.00137049	.	.	2218641	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.020	N	1.000	D	-2.36	N	4.14	T	-0.984	T	0.002	T	0.462	-0.893	0.452	4.24	0.487	2.462	4.874	0.203	0.00576565388341	7.7e-05	0.000199681	0.0002	0	0	0	0	0.0001	0	0.0010	0.0001617	25	154602	rs150528924	0.0001	0.0001	7.489e-05	0.0001	0.0012	8.716e-05	8.203e-05	0.0007	0.0006	5.975e-05	2.236e-05	0	0	0	0.0012	4.317e-05	0.0003	0.0008	8.539e-05	8.53e-05	7.712e-05	9.404e-05	0.0004	4.956e-05	3.961e-05	7.299e-05	3.032e-05	4.816e-05	0	0	0	0	0	0.0102	7.352e-05	0.0005	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.020265	0.27075	N	0.183014	1	0.81001	D	-2.58	0.00045	N	4.0	0.03239	T	12.94	0.00035	N	0.225	0.25253	-0.9838	0.34116	T	0.002	0.00707	T	10	0.005750537	0.00128	T	0.005766	0.14952	T	0.203	0.48915	.	.	0.0297737177859	0.01360	0.21796326510455946	0.21712	0.131956524473	0.14876	0.427430331707	0.28857	T	0.015554	0.13024	T	-0.196471	0.21314	T	-0.519993	0.20296	T	0.16488978266716	0.18226	T	0.527447	0.17405	T	0.058829036	0.11882	0.04223312	0.04983	0.058829036	0.11882	0.04223312	0.04983	-4.421	0.29840	T	.	.	0.058	0.00636	B	.;.	.;.	2.470145	0.31833	18.86	0.78890073690028095	0.12497	0.02989	0.07845	N	AEFDBHCI	0.032289	0.03615	N	-1.36112774893899	0.03011	0.133848	-1.05316942776449	0.08641	0.4258634	0.986819625092286	0.31130	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.4	4.24	0.49486	2.510000	0.45129	5.019000	0.46730	-0.639000	0.04456	0.983000	0.35670	1.000000	0.68203	0.632000	0.32210	0.7518:0.0:0.0861:0.1621	4.874	0.13004	197	0.92378	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1071.98	37	chr12	49587661	.	G	A	1071.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.744;DP=808;ExcessHet=0.0000;FS=6.489;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.05;ReadPosRankSum=-2.070e+00;SOR=1.312	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr12	49598939	49598939	G	A	exonic	FAM186B	.	nonsynonymous SNV	FAM186B:NM_032130:exon5:c.C2180T:p.A727V,	.	.	434	1063	24	1	0	26	0.0120818	.	.	702346	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.878	N	1.000	N	-2.08	N	2.65	T	-0.957	T	0.006	T	0.058	-2.070	0.006	2.74	0.407	2.260	6.932	0.048	.	0.0032	0.00539137	0.0056	0.0007	0.0021	0	0.0014	0.0051	0.0077	0.0177	0.0051358	794	154602	rs140003810	0.0047	0.0047	0.0041	0.0052	0.0197	0.0046	0.0046	0.0189	0.0186	0.0005	0.0014	0.0002	2.519e-05	0.0021	0.0061	0.0042	0.0047	0.0197	0.0032	0.0033	0.0029	0.0036	0.0186	0.0030	0.0029	0.0155	0.0143	0.0008	0.0175	0.0014	0	0	0.0025	0.0034	0.0044	0.0038	0.0186	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.877850	0.07216	N	1.075970	1	0.08975	N	-2.08	0.00163	N	2.65	0.12676	T	3.44	0.00324	N	0.293	0.33140	-0.9574	0.39662	T	0.006	0.01944	T	9	0.0028708577	0.00046	T	.	.	.	0.048	0.13305	.	.	0.0138822411134	0.00435	0.006501787356334028	0.00618	0.126722892761	0.14277	0.278444051743	0.07277	T	0.003863	0.03272	T	-0.708018	0.00033	T	-0.775515	0.02591	T	0.00702456807184596	0.00080	T	0.516848	0.16688	T	0.02423376	0.01234	0.04665354	0.06548	0.020508569	0.00611	0.048685294	0.07282	-3.957	0.23158	T	.	.	0.049	0.00354	B	.;.	.;.	0.323841	0.06985	3.535	0.57663752355777087	0.05819	0.00054	0.00410	N	AEFDBI	0.019222	0.00648	N	-1.30293351847101	0.03642	0.163038	-1.17095918037805	0.06399	0.3079119	0.00212603477977625	0.09174	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.26	2.74	0.31352	2.305000	0.43324	4.702000	0.44414	-0.112000	0.15009	0.018000	0.19461	0.231000	0.23784	0.023000	0.12082	0.8125:0.0:0.1875:0.0	6.932	0.23625	231	0.90996	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1021.98	33	chr12	49598939	.	G	A	1021.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.758e+00;DP=816;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.29;ReadPosRankSum=-3.050e-01;SOR=0.682	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1191	20	0	1	0
chr12	49795633	49795633	G	T	exonic	NCKAP5L	.	nonsynonymous SNV	NCKAP5L:NM_001037806:exon8:c.C2227A:p.L743I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.764	P	0.305	B	0.002	N	0.891	N	1.1	L	0.82	T	-0.962	T	0.137	T	0.216	0.435	6.364	4.18	2.319	.	13.870	0.030	0.0141089389353	.	.	1.845e-05	0	0	0	0	0	0	0.0002	1.29e-05	2	154602	rs770151695	4.116e-06	4.788e-06	5.46e-06	2.758e-06	5.823e-05	1.48e-06	9.7e-07	2.201e-05	1.435e-05	0	0	0	0	0	0	9.008e-07	0	5.823e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.392	0.15406	T	.	.	.	.	.	.	0.001537	0.38731	N	0.000000	0.891431	0.27874	N	.	.	.	0.82	0.48142	T	-0.37	0.13226	N	0.133	0.12913	-0.9623	0.38742	T	0.137	0.45375	T	10	0.07996869	0.12925	T	0.014109	0.34004	T	0.030	0.07022	0.203	0.11797	0.23798241625	0.23396	0.04503164074191393	0.04447	0.0860152842358	0.09718	0.460143208504	0.33330	T	.	.	.	-0.332183	0.05948	T	-0.532788	0.19008	T	0.12284267693758	0.14705	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08754	B	.	.	1.163690	0.15528	11.92	0.94361953589870518	0.24719	0.31898	0.24452	N	AEFDBCI	0.120376	0.23452	N	-0.103470081509316	0.37242	2.163864	-0.111323450119975	0.34934	2.015094	0.890663276800232	0.25841	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.18	4.18	0.48473	-0.166000	0.09943	4.157000	0.42186	0.676000	0.76740	0.000000	0.06391	1.000000	0.68203	0.805000	0.37950	0.0:0.0:1.0:0.0	13.870	0.63112	336	0.86165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	771.98	34	chr12	49795633	.	G	T	771.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=817;ExcessHet=0.0000;FS=0.776;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.21;ReadPosRankSum=0.677;SOR=0.543	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1359	20	0	1	0
chr12	49797342	49797342	G	A	exonic	NCKAP5L	.	nonsynonymous SNV	NCKAP5L:NM_001037806:exon8:c.C518T:p.P173L	.	.	405	1113	4	0	0	4	0.00179372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.001	B	0.002	B	.	.	0.870	N	0	N	0.86	T	-1.049	T	0.061	T	0.184	1.513	11.01	3.19	1.015	1.304	4.359	0.049	0.0167115053929	.	0.00119808	0.0008	0.0001	0	0	0	0.0005	0.0014	0.0032	0.0005369	83	154602	rs569641492	0.0003	0.0003	0.0002	0.0004	0.0023	0.0003	0.0002	0.0020	0.0019	2.989e-05	4.484e-05	0.0028	2.519e-05	1.914e-05	0.0018	8.097e-05	0.0004	0.0023	0.0002	0.0002	0.0002	0.0001	0.0019	0.0001	0.0001	0.0010	0.0007	0	0	0	0.0029	0	0	0	7.353e-05	0.0009	0.0019	0.005	0.63226	D	0.072	0.43344	T	.	.	.	.	.	.	.	.	.	.	0.870105	0.28220	N	.	.	.	0.86	0.46777	T	-1.32	0.32991	N	0.235	0.26475	-1.0487	0.14761	T	0.061	0.25310	T	9	0.007937312	0.00180	T	0.016712	0.38094	T	0.049	0.13647	.	.	0.0934897674506	0.08844	0.4862114763229234	0.48541	0.0817337950663	0.09202	0.579079866409	0.49955	T	.	.	.	-0.534607	0.00361	T	-0.546251	0.17687	T	0.034434857435904	0.02711	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.10352	B	.	.	1.694139	0.21581	15.26	0.86906148450138743	0.16854	0.80666	0.40245	D	AEFDGBI	0.107275	0.21378	N	-0.485533920443049	0.22555	1.20512	-0.341040248936727	0.26787	1.481902	0.999996422134219	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.09	3.19	0.35720	1.795000	0.38418	0.710000	0.20927	-0.710000	0.03952	0.992000	0.37556	0.996000	0.32793	0.029000	0.12982	0.1983:0.0:0.621:0.1807	4.359	0.10628	336	0.86165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1900.08	41	chr12	49797342	.	G	A	1900.08	.	AC=2;AF=0.048;AN=42;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.15;SOR=1.292	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1359	20	1	0	0
chr12	49897574	49897574	T	C	exonic	FAIM2	.	nonsynonymous SNV	FAIM2:NM_012306:exon4:c.A325G:p.I109V,	.	.	419	1086	16	1	0	18	0.00821918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.998	D	0.996	D	0.000	D	1.000	D	1.815	L	3.34	T	-0.797	T	0.216	T	0.534	3.299	17.09	5.74	2.317	6.513	12.712	0.235	.	0.0002	0.00159744	0.0016	0	8.676e-05	0	0	0.0002	0.0011	0.0112	0.0013583	210	154602	rs200620529	0.0007	0.0007	0.0004	0.0011	0.0103	0.0007	0.0007	0.0097	0.0095	5.974e-05	0	0.0045	2.519e-05	0	0.0010	3.148e-05	0.0007	0.0103	0.0004	0.0004	0.0002	0.0006	0.0085	0.0003	0.0003	0.0064	0.0057	2.408e-05	0	6.538e-05	0.0046	0	0	0	5.883e-05	0	0.0085	0.386	0.17940	T	0.112	0.37037	T	0.998	0.73220	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.355	0.67662	M	0.9	0.45248	T	-0.35	0.16393	N	0.443	0.48134	-0.7975	0.55292	T	0.216	0.57732	T	10	0.009682864	0.00218	T	.	.	.	0.235	0.53788	.	.	0.272557281605	0.26857	0.7459938201656584	0.74545	1.05934363459	0.76425	0.593752563	0.52024	T	0.190085	0.54451	T	-0.406099	0.02110	T	-0.348148	0.39416	T	0.101228885639526	0.12492	T	0.934107	0.78426	D	0.11005327	0.26015	0.103523225	0.24841	0.11005327	0.26015	0.103523225	0.24841	-5.794	0.44522	T	.	.	0.133	0.40065	B	.;.;.;.;.	.;.;.;.;.	4.305724	0.65784	24.9	0.99806870377764767	0.89085	0.92562	0.56003	D	AEFDBCI	0.825949	0.74554	D	0.684415758947276	0.78613	6.906662	0.689373481034832	0.81570	7.558122	0.999999207072692	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.74	5.74	0.90070	2.900000	0.48386	6.146000	0.54124	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:0.0:0.0:1.0	12.712	0.56462	262	0.89730	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	501.98	35	chr12	49897574	.	T	C	501.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=756;ExcessHet=0.0000;FS=1.013;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.23;ReadPosRankSum=-7.400e-02;SOR=0.963	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1141	20	0	1	0
chr12	49965085	49965085	G	A	exonic	AQP5	.	nonsynonymous SNV	AQP5:NM_001651:exon4:c.G706A:p.V236M,	Palmoplantar keratoderma, Bothnian type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3286066	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.3	T	0.001	B	0.002	B	0.918	N	0.997	N	1.61	L	-2.33	D	-0.623	T	0.497	T	0.09	0.940	8.831	2.38	0.305	0.579	7.180	0.095	0.0260767279397	.	.	0.0001	0	0	0	0	1.506e-05	0.0011	0.0010	0.0001164	18	154602	rs747365491	8.414e-05	8.414e-05	4.492e-05	0.0001	0.0016	7.203e-05	6.75e-05	0.0010	0.0009	0	0	0	2.519e-05	0	0.0016	4.496e-06	6.623e-05	0.0012	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0004	2.18e-06	8.2e-07	7.287e-05	3.028e-05	0	0	0	0	0	0	0	0	0	0.0004	0.231	0.18246	T	0.146	0.32891	T	0.001	0.07471	B	0.002	0.06944	B	0.918181	0.08505	N	0.956613	0.996913	0.22858	N	0.92	0.23413	L	-2.33	0.87910	D	0.11	0.05706	N	0.08	0.05542	-0.6229	0.63868	T	0.497	0.80965	T	10	0.029852092	0.01111	T	0.026077	0.49013	D	0.095	0.27398	0.352	0.35084	0.792489852613	0.79056	0.3346052214860197	0.33373	0.36051773859	0.37721	0.416901111603	0.27411	T	0.199112	0.55629	T	-0.397055	0.02420	T	-0.407873	0.32469	T	0.0310547258704901	0.02155	T	0.710029	0.32075	T	0.08322293	0.19210	0.06251498	0.12243	0.08322293	0.19209	0.06251498	0.12242	-3.08	0.11068	T	.	.	0.121	0.25034	B	.	.	2.583981	0.33511	19.36	0.93492671220281953	0.23296	0.21873	0.21554	N	AEFDGBI	0.123333	0.23888	N	-0.697868862140529	0.16083	0.8162544	-0.687428475422976	0.17275	0.9178094	0.999958737731187	0.48110	0.646311	0.45356	0	0.563428	0.19063	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.23	2.38	0.28415	0.288000	0.18695	0.797000	0.21623	0.676000	0.76740	0.008000	0.17931	0.175000	0.23375	0.992000	0.67800	0.1598:0.1407:0.6995:0.0	7.180	0.24945	227	0.91186	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	646.98	37	chr12	49965085	.	G	A	646.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=759;ExcessHet=0.0000;FS=0.926;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.86;ReadPosRankSum=0.749;SOR=0.891	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr12	50080626	50080626	A	G	exonic	ASIC1	.	nonsynonymous SNV	ASIC1:NM_020039:exon9:c.A1334G:p.H445R,	.	.	423	1098	1	0	0	1	0.000455166	.	.	713566	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.94	T	0.002	B	0.006	B	0.138	N	1.000	N	.	.	0.27	T	-1.008	T	0.034	T	0.097	4.206	21.8	2.95	0.543	0.031	6.788	0.051	.	0.0090	0.00778754	0.0021	0.0233	0.0009	0	0	0	0.0011	0	0.0020246	313	154602	rs115122265	0.0007	0.0007	0.0007	0.0006	0.0237	0.0006	0.0006	0.0224	0.0218	0.0237	0.0013	0	0	0	0.0005	8.993e-06	0.0016	2.319e-05	0.0071	0.0071	0.0073	0.0068	0.0241	0.0067	0.0066	0.0229	0.0224	0.0241	0	0.0036	0	0	0	0	2.94e-05	0.0085	0.0006	0.462	0.08685	T	0.178	0.29639	T	0.002	0.09854	B	0.006	0.12133	B	0.137647	0.02859	N	1.999930	1	0.08975	N	.	.	.	0.27	0.59176	T	-0.12	0.08809	N	0.07	0.04307	-1.0083	0.27448	T	0.034	0.14464	T	9	0.0022660792	0.00033	T	.	.	.	0.051	0.14325	.	.	0.421947164513	0.41814	0.19186479994969716	0.19104	1.31590279658	0.83328	0.309869408607	0.11887	T	.	.	.	-0.597835	0.00150	T	-0.612601	0.11774	T	0.000957684318243927	0.00009	T	0.365463	0.08501	T	.	.	.	.	.	.	.	.	-2.878	0.08925	T	.	.	0.075	0.05623	B	.	.	0.764625	0.11347	7.963	0.98141551778059877	0.38605	0.14257	0.18307	N	AEFBI	0.104017	0.20823	N	-0.877460917343344	0.11380	0.5488815	-0.848127707390556	0.13332	0.6910654	0.923842742838758	0.26758	0.549168	0.22868	0	0.59043	0.45803	0	0.590023	0.30420	0	0.616125	0.45549	0	.	.	4.46	2.95	0.33285	-0.303000	0.08249	-0.410000	0.09352	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.836000	0.39433	0.6697:0.0:0.0:0.3303	6.788	0.22869	209	0.91859	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1421.98	33	chr12	50080626	.	A	G	1421.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.018e+00;DP=852;ExcessHet=0.0000;FS=3.860;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.54;ReadPosRankSum=-3.090e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1187	20	0	1	0
chr12	50134563	50134563	C	A	exonic	CERS5	.	nonsynonymous SNV	CERS5:NM_001331070:exon9:c.G1012T:p.A338S	.	.	426	1093	3	0	0	3	0.00137049	.	.	2396078	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.45	T	0.949	P	0.54	P	0.000	D	1.000	D	1.805	L	2.82	T	-0.702	T	0.240	T	0.717	3.695	18.77	5.01	2.785	7.493	18.905	0.176	0.0119834152789	.	.	4.942e-05	0	0	0	0	4.495e-05	0	0.0002	3.88e-05	6	154602	rs776527448	4.994e-05	4.994e-05	3.539e-05	6.463e-05	0.0009	4.059e-05	3.734e-05	0.0003	0.0002	2.987e-05	0	0	0	0	0.0009	3.957e-05	9.934e-05	0.0002	3.283e-05	3.281e-05	2.569e-05	4.03e-05	0.0002	1.26e-05	7.98e-06	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0.0034	0	0.0005	0.0002	0.296	0.14694	T	0.568	0.10750	T	0.125	0.26866	B	0.074	0.28220	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.29	0.65257	M	2.63	0.12884	T	-1.73	0.41046	N	0.638	0.65074	-0.7019	0.60347	T	0.240	0.60750	T	10	0.39509186	0.55169	T	0.011983	0.30135	T	0.176	0.44373	0.452	0.51448	0.443285836454	0.43952	0.6155400670588785	0.61486	0.365336773763	0.38131	0.571252584457	0.48855	T	0.118161	0.43877	T	-0.188081	0.22540	T	-0.21175	0.53528	T	0.256752192974091	0.23172	T	0.906409	0.67021	D	0.28846425	0.51849	0.25472623	0.51143	0.28846425	0.51849	0.25472623	0.51142	-6.197	0.48936	T	.	.	0.201	0.42549	B	.;.	.;.	4.192946	0.63207	24.6	0.99353555017754025	0.60697	0.99078	0.90902	D	AEFDGBI	0.923791	0.90081	D	0.511213802635742	0.67751	5.123727	0.569980475936847	0.72799	5.866948	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	7.794000	0.84430	7.611000	0.61914	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:1.0:0.0:0.0	18.905	0.92430	229	0.91079	.;TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1152.98	33	chr12	50134563	.	C	A	1152.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=-2.930e-01;SOR=0.657	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1286	20	0	1	0
chr12	50134634	50134634	T	C	exonic	CERS5	.	nonsynonymous SNV	CERS5:NM_001331070:exon9:c.A941G:p.N314S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	1.0	D	0.99	D	0.000	D	1.000	D	3.305	M	-2.03	D	0.542	D	0.770	D	0.257	2.917	15.72	3.87	1.054	7.705	10.966	0.302	0.157198592843	.	.	8.237e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs773386865	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	0.996	0.68779	D	0.955	0.69585	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.145	0.88303	M	-2.03	0.85613	D	-4.7	0.79829	D	0.761	0.75927	0.542	0.91131	D	0.770	0.92189	D	10	0.87000215	0.86261	D	0.157199	0.83783	D	0.621	0.85301	0.641	0.77795	0.826449375784	0.82480	0.8624126307046751	0.86205	0.701290839749	0.61136	0.487399369478	0.37078	T	0.750869	0.93172	D	0.0246753	0.55010	T	-0.105478	0.62970	T	0.944369673728943	0.62046	D	0.981802	0.93846	D	0.5295632	0.68805	0.364143	0.61788	0.5295632	0.68806	0.364143	0.61788	-10.546	0.77602	D	.	.	0.204	0.42891	B	.;.	.;.	4.549695	0.71588	25.7	0.99730920623919439	0.82761	0.94953	0.62907	D	AEFDBCI	0.915405	0.88016	D	0.432806239722745	0.63234	4.553395	0.309457808638483	0.56094	3.77243	0.999999887415719	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.01	3.87	0.43823	7.856000	0.85294	7.826000	0.69930	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.433000	0.27516	0.0:0.0734:0.0:0.9266	10.966	0.46623	229	0.91079	.;TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1857.98	33	chr12	50134634	.	T	C	1857.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.935e+00;DP=832;ExcessHet=0.0000;FS=2.169;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=-3.740e-01;SOR=0.516	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1286	20	0	1	0
chr12	50351445	50351445	C	G	exonic	FAM186A	.	nonsynonymous SNV	FAM186A:NM_001145475:exon4:c.G5387C:p.R1796P,	.	.	405	1116	1	0	0	1	0.000447828	.	.	2200410	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.44	T	0.0	B	0.0	B	.	.	1.000	N	0	N	2.95	T	-0.926	T	0.012	T	0.13	-0.158	3.228	1.4	0.163	1.180	4.256	0.017	0.0164343207537	.	.	0.0003	0.0011	0	0	0	0.0002	0	0	1.94e-05	3	154602	rs757634083	4.778e-05	4.583e-05	5.178e-05	4.358e-05	0.0010	3.817e-05	3.469e-05	0.0007	0.0006	0.0003	0.0010	0	0	0	0.0004	2.298e-05	7.347e-05	4.696e-05	0.0004	0.0004	0.0003	0.0005	0.0024	0.0003	0.0003	0.0018	0.0015	0.0006	0	0.0024	0	0	0	0	1.471e-05	0	0	0.402	0.10412	T	0.178	0.29639	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.625	0.02162	N	2.95	0.09635	T	0.42	0.03579	N	0.094	0.07398	-0.9262	0.44688	T	0.012	0.04747	T	9	0.008940399	0.00202	T	0.016434	0.37682	T	0.017	0.02790	.	.	0.0716867268079	0.06686	0.07811608282484019	0.07747	.	.	0.232401847839	0.02150	T	0.00533	0.04780	T	-0.646538	0.00076	T	-0.731563	0.04257	T	0.00612034785864616	0.00068	T	0.325467	0.07848	T	0.07035664	0.15490	0.07419596	0.16205	0.07035664	0.15490	0.07419596	0.16204	0.445	0.00224	T	.	.	0.093	0.19073	B	.;.	.;.	0.096702	0.04991	1.550	0.60279639117749695	0.06425	0.00037	0.00318	N	AEFDGBI	.	.	.	-1.24110700195495	0.04418	0.1993517	-1.21910486980429	0.05603	0.2674323	0.999649310345723	0.41316	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.41	1.4	0.21393	1.025000	0.29695	0.862000	0.22237	-2.190000	0.00359	0.022000	0.19841	0.071000	0.22219	0.001000	0.02609	0.0932:0.1637:0.5879:0.1552	4.256	0.10169	584	0.69381	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	767.98	76	chr12	50351445	.	C	G	767.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.44;DP=1338;ExcessHet=0.0000;FS=0.934;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.38;ReadPosRankSum=-3.900e-02;SOR=0.925	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	20	0	1	0
chr12	50351611	50351611	C	T	exonic	FAM186A	.	nonsynonymous SNV	FAM186A:NM_001145475:exon4:c.G5221A:p.A1741T,	.	.	431	1090	1	0	0	1	0.000458505	.	.	2198564	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.78	T	0.1	B	0.076	B	.	.	1.000	N	0	N	2.88	T	-0.938	T	0.013	T	0.018	0.908	8.693	2.89	1.178	-0.457	7.226	0.053	0.0163832103118	0.0002	.	5.117e-05	0	0	0	0	0.0001	0	0	2.59e-05	4	154602	rs201614087	0.0001	0.0001	9.872e-05	0.0001	0.0014	9.384e-05	8.844e-05	0.0007	0.0005	3.165e-05	0.0001	0	0	2.029e-05	0.0014	0.0001	0.0002	0	0.0001	0.0001	0.0001	0.0001	0.0001	6.514e-05	5.325e-05	7.911e-05	5.996e-05	7.243e-05	0	0.0001	0	0	0	0	0.0001	0.0005	0	0.489	0.08018	T	0.963	0.02542	T	0.1	0.25713	B	0.076	0.28435	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.88	0.10291	T	-1.05	0.27463	N	0.01	0.00095	-0.9375	0.43010	T	0.013	0.05177	T	9	0.038436353	0.02262	T	0.016383	0.37609	T	0.053	0.14996	.	.	0.0297737177859	0.01360	0.12160316434134946	0.12087	.	.	0.212062448263	0.00902	T	0.002104	0.01509	T	-0.622249	0.00107	T	-0.846881	0.01000	T	0.0417360227937202	0.04006	T	0.339066	0.07293	T	0.0594756	0.12091	0.0765381	0.16960	0.0594756	0.12091	0.0765381	0.16960	-3.062	0.10865	T	.	.	0.099	0.22680	B	.;.	.;.	0.176996	0.05651	2.101	0.54404306429006866	0.05131	0.01473	0.04910	N	AEFDBI	.	.	.	-1.01741721352508	0.08242	0.3857647	-0.981055483417262	0.10211	0.512836	0.999434346420199	0.39683	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.87	2.89	0.32713	0.063000	0.14285	-0.841000	0.07217	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.169:0.7376:0.0:0.0934	7.226	0.25193	584	0.69381	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1589.98	76	chr12	50351611	.	C	T	1589.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.550e-01;DP=1421;ExcessHet=0.0000;FS=7.948;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=-1.800e-02;SOR=0.832	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	20	0	1	0
chr12	50355622	50355622	T	A	exonic	FAM186A	.	nonsynonymous SNV	FAM186A:NM_001145475:exon4:c.A1210T:p.T404S,	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.002	B	.	.	1.000	N	0	N	2.98	T	-0.963	T	0.011	T	0.04	-0.253	2.782	-6.39	-2.779	-3.486	5.336	0.001	0.00416219765544	.	0.000199681	5.094e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs541872085	7.861e-06	7.524e-06	5.641e-06	1.014e-05	0.0001	4.22e-06	3.08e-06	5.83e-05	4.355e-05	0	0	0	0	0	0	1.854e-06	0	0.0001	6.563e-06	6.561e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.232	0.18184	T	0.847	0.03538	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.98	0.09356	T	-0.63	0.18459	N	0.026	0.00527	-0.9629	0.38625	T	0.011	0.03903	T	9	0.021455944	0.00514	T	0.004162	0.09995	T	0.001	0.00016	0.232	0.16005	0.0138822411134	0.00435	0.01102873951545734	0.01063	.	.	0.239215865731	0.02721	T	0.001481	0.00934	T	-0.62198	0.00107	T	-0.861908	0.00823	T	0.0518253261996615	0.05817	T	0.223678	0.02905	T	0.03185723	0.03102	0.035538424	0.02824	0.03185723	0.03102	0.035538424	0.02823	-2.619	0.06649	T	.	.	0.121	0.25166	B	.;.	.;.	-1.439874	0.00333	0.006	0.29243799415449218	0.01541	0.00595	0.02663	N	AEFDBI	.	.	.	-2.00274142977735	0.00209	0.008945175	-2.09625608780109	0.00190	0.008357259	0.99999869136592	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	3.2	-6.39	0.01778	-2.999000	0.00717	-1.371000	0.05598	-0.808000	0.03092	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1126:0.5289:0.1144:0.2441	5.336	0.15265	612	0.66786	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1487.98	62	chr12	50355622	.	T	A	1487.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.26;DP=1120;ExcessHet=0.0000;FS=1.441;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=-1.351e+00;SOR=0.567	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	20	0	1	0
chr12	50402772	50402772	A	T	exonic	LARP4	.	startloss	LARP4:NM_001352306:exon2:c.A1T:p.M1?,	.	.	435	1074	13	0	0	13	0.00601573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	.	.	.	.	-0.976	T	0.064	T	0.213	1.243	10.05	-2.76	-0.623	0.008	0.302	0.117	.	.	0.00239617	0.0050	0	0	0	.	0.0055	0	0.0052	0.0011837	183	154602	rs368134552	0.0051	0.0025	0.0050	0.0053	0.0063	0.0049	0.0048	0.0060	0.0058	0.0008	0.0008	0.0039	0	0.0037	0.0050	0.0063	0.0068	0.0056	0.0039	0.0039	0.0043	0.0035	0.0069	0.0037	0.0036	0.0064	0.0062	0.0013	0	0.0019	0.0029	0	0.0013	0.0068	0.0069	0.0043	0.0023	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	0.07	0.06138	N	.	.	-0.9763	0.35838	T	0.064	0.26349	T	5	0.101192236	0.18473	T	.	.	.	0.117	0.32689	0.996	0.99957	0.082315109003	0.07666	.	.	.	.	.	.	.	.	.	.	-0.488973	0.00658	T	-0.465758	0.25976	T	0.00916332872932572	0.00116	T	0.9	0.65058	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.580947	0.09496	6.272	0.51423755933573578	0.04560	0.06729	0.12751	N	AEFDBCI	0.012963	0.00157	N	-0.823687933351643	0.12706	0.6210789	-1.03307458598087	0.09063	0.4488527	0.999979690762501	0.50053	0.608746	0.35421	0	0.405561	0.06353	1	0.731467	0.93227	0	0.665054	0.64577	0	.	.	2.89	-2.76	0.05547	0.002000	0.12962	0.039000	0.13841	-0.058000	0.16670	0.000000	0.06391	0.000000	0.08366	0.325000	0.25087	0.3485:0.201:0.2541:0.1963	0.302	0.00255	327	0.86637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1076.98	33	chr12	50402772	.	A	T	1076.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.412;DP=774;ExcessHet=0.0000;FS=2.828;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=-8.910e-01;SOR=0.627	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1138	20	0	1	0
chr12	50466962	50466962	C	G	exonic	LARP4	.	nonsynonymous SNV	LARP4:NM_001170803:exon11:c.C961G:p.P321A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.748	P	0.364	B	0.000	D	1.000	N	1.655	L	1.44	T	-1.057	T	0.051	T	0.202	1.308	10.28	-0.057	-0.114	2.447	2.491	0.117	0.0072584458573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.41637	D	0.259	0.34959	T	0.415	0.43202	B	0.361	0.43306	B	0.000004	0.62929	D	0.106321	0.999575	0.47641	D	2.24	0.63355	M	1.44	0.32722	T	-3.65	0.73893	D	0.248	0.29659	-1.0574	0.12414	T	0.051	0.21495	T	10	0.09370801	0.16605	T	0.007258	0.19253	T	0.117	0.32689	0.232	0.16005	0.309943084671	0.30607	0.22762107059712555	0.22677	0.344505611829	0.36384	0.428053796291	0.28942	T	0.161029	0.50511	T	-0.181804	0.23467	T	-0.498925	0.22459	T	0.475608140230179	0.31737	T	0.741226	0.62289	T	0.08077547	0.18526	0.10012989	0.23930	0.08077547	0.18525	0.10012989	0.23929	-3.75	0.25364	T	.	.	0.075	0.15341	B	.;.;.;.;.;.	.;.;.;.;.;.	1.600655	0.20464	14.76	0.8532034865831214	0.15820	0.97460	0.74892	D	AEFBI	0.346928	0.44158	N	-0.758492038502958	0.14404	0.7172059	-0.733631669229592	0.16126	0.8515599	0.00358858330943809	0.10188	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.99	-0.0567	0.13135	2.648000	0.46313	1.349000	0.25794	-0.852000	0.02700	1.000000	0.71638	1.000000	0.68203	0.598000	0.31338	0.1176:0.5081:0.1142:0.2601	2.491	0.04329	249	0.90233	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02778	42.12	20	chr12	50466962	.	C	G	42.12	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-2.242e+00;DP=716;ExcessHet=0.0000;FS=19.352;InbreedingCoeff=-0.0650;MLEAC=1;MLEAF=0.028;MQ=59.36;MQRankSum=0.00;QD=1.36;ReadPosRankSum=-1.002e+00;SOR=4.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,940	17	0	1	3
chr12	51291931	51291931	C	G	exonic	BIN2	.	nonsynonymous SNV	BIN2:NM_001364781:exon8:c.G1013C:p.R338P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.997	D	0.884	P	0.112	N	0.992	N	1.04	L	-0.35	T	0.301	D	0.838	D	0.657	1.338	10.39	3.19	1.316	0.667	7.880	0.417	0.0544976934409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.331	0.18505	T	.	.	.	.	.	.	0.112037	0.19375	N	0.534209	0.991911	0.23963	N	.	.	.	-0.4	0.69287	T	-0.11	0.08653	N	0.266	0.33030	0.301	0.87581	D	0.838	0.94567	D	10	0.245125	0.41755	T	0.054498	0.65878	D	0.417	0.72705	.	.	0.800418088792	0.79855	.	.	.	.	0.441181719303	0.30738	T	0.032078	0.22330	T	0.069648	0.60805	D	-0.137732	0.60314	T	0.773840248584747	0.44671	D	0.815918	0.47089	T	.	.	.	.	.	.	.	.	-5.157	0.38502	T	.	.	0.273	0.50690	B	.;.	.;.	2.377800	0.30519	18.46	0.98723678899467138	0.45245	0.43984	0.27219	N	AEFDGBHCI	0.220228	0.34501	N	-0.0329738568526593	0.40366	2.395975	-0.139306572010089	0.33822	1.938837	0.999999994882695	0.74766	0.712529	0.81865	0	0.635938	0.57008	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	4.08	3.19	0.35720	0.376000	0.20265	0.212000	0.15973	0.599000	0.40250	0.115000	0.23085	0.011000	0.20116	0.127000	0.19450	0.0:0.8885:0.0:0.1115	7.880	0.28779	369	0.84396	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2017.98	35	chr12	51291931	.	C	G	2017.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.000e+00;DP=835;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.40;ReadPosRankSum=-1.030e-01;SOR=0.747	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,961	20	0	1	0
chr12	51292325	51292325	C	G	exonic	BIN2	.	nonsynonymous SNV	BIN2:NM_001364781:exon8:c.G619C:p.V207L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.996	D	0.987	D	0.001	N	0.785	N	1.1	L	-0.16	T	0.581	D	0.874	D	0.442	2.877	15.58	4.67	2.882	3.425	13.390	0.334	0.109322549673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.33	0.18560	T	.	.	.	.	.	.	0.001455	0.38980	N	0.171229	0.785046	0.34315	D	.	.	.	-0.16	0.65378	T	-1.0	0.26422	N	0.301	0.34012	0.581	0.91643	D	0.874	0.95803	D	10	0.35797223	0.52500	T	0.109323	0.78624	D	0.334	0.65620	.	.	0.788632614093	0.78667	.	.	.	.	0.609907567501	0.54302	T	0.017497	0.14263	T	-0.00090679	0.51528	T	-0.239079	0.50888	T	0.837968468666077	0.49162	D	0.860814	0.55431	D	.	.	.	.	.	.	.	.	-7.214	0.55582	T	.	.	0.245	0.47965	B	.;.	.;.	4.997501	0.82893	27.9	0.99672532336899022	0.78717	0.87471	0.47021	D	AEFDGBHCI	0.606464	0.59680	D	0.411121754461991	0.62034	4.412819	0.39213273943583	0.61080	4.303152	0.999999999963225	0.74766	0.631981	0.41245	0	0.779548	0.99637	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	4.67	4.67	0.58089	3.803000	0.55264	5.460000	0.48669	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.583000	0.30967	0.0:1.0:0.0:0.0	13.390	0.60261	369	0.84396	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1329.99	57	chr12	51292325	.	C	G	1329.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.268e+00;DP=1012;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0252;MLEAC=1;MLEAF=0.024;MQ=59.95;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-1.124e+00;SOR=0.759	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	20	0	1	0
chr12	51341283	51341283	T	G	exonic	CELA1	.	nonsynonymous SNV	CELA1:NM_001971:exon5:c.A424C:p.N142H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.97	D	0.000	D	1.000	D	1.9	L	-2.43	D	0.271	D	0.717	D	0.193	3.686	18.73	1.49	0.078	1.003	6.130	0.512	0.0710694041013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.026	0.55759	D	0.998	0.73220	D	0.97	0.72226	D	0.000110	0.50451	D	0.201649	0.999806	0.49283	D	1.195	0.30194	L	-2.43	0.88689	D	-3.62	0.69593	D	0.258	0.29197	0.271	0.87085	D	0.717	0.90290	D	10	0.36830625	0.53276	T	0.071069	0.71172	D	0.512	0.79094	0.617	0.75116	0.783247047901	0.78124	0.4468493704695534	0.44602	0.180464951162	0.20297	0.31728720665	0.13009	T	0.519467	0.83168	D	-0.0233687	0.48372	T	-0.271344	0.47683	T	0.960074663162231	0.65706	D	0.525947	0.17303	T	0.35840684	0.57714	0.31719327	0.57696	0.35840684	0.57714	0.31719327	0.57695	-9.62	0.71603	D	.	.	0.149	0.32945	B	.	.	2.338110	0.29957	18.29	0.99532510571281729	0.69963	0.69764	0.34318	D	ALL	0.384408	0.46554	N	0.104765132330059	0.46685	2.905107	0.0329442109269923	0.41254	2.475473	0.99999991918703	0.74766	0.648878	0.45929	0	0.596394	0.48810	0	0.606814	0.37721	0	0.603991	0.37454	0	.	.	5.2	1.49	0.21966	1.099000	0.30625	-0.894000	0.07016	-1.448000	0.01097	1.000000	0.71638	0.012000	0.20211	0.966000	0.53164	0.0:0.148:0.1363:0.7156	6.130	0.19418	305	0.87738	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1480.98	39	chr12	51341283	.	T	G	1480.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.543e+00;DP=885;ExcessHet=0.0000;FS=0.693;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=0.104;SOR=0.790	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr12	51706661	51706661	G	C	exonic	SCN8A	.	nonsynonymous SNV	SCN8A:NM_001177984:exon11:c.G1581C:p.K527N	Epileptic encephalopathy, early infantile, 13, Autosomal dominant;Seizures, benign familial infantile, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.928	P	0.503	P	0.000	D	0.817	N	1.76	L	-2.82	D	0.033	D	0.626	D	0.12	2.608	14.68	2.46	0.518	0.299	7.062	0.252	0.0719142025239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	3.968e-05	1.38e-06	1.404e-06	3.092e-05	2.3e-07	9e-08	.	.	3.092e-05	0	0	0	0	0	9.097e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.223	0.33109	T	0.431	0.35606	B	0.315	0.41566	B	0.000179	0.48594	D	0.184301	0.816986	0.28930	N	2.195	0.61839	M	-2.82	0.91192	D	-2.89	0.62747	D	0.442	0.53445	0.033	0.82901	D	0.626	0.86854	D	10	0.24059924	0.41222	T	0.071914	0.71394	D	0.252	0.56159	0.33	0.31519	0.902646408154	0.90167	0.5674523308067984	0.56673	1.41807407564	0.85568	0.605724453926	0.53712	T	0.703665	0.91489	D	-0.0247068	0.48179	T	-0.273266	0.47488	T	0.927446901798248	0.59031	D	0.789921	0.45664	T	0.2993846	0.52850	0.29699904	0.55732	0.2993846	0.52850	0.29699904	0.55732	-3.007	0.12177	T	.	.	0.476	0.68156	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.650273	0.34508	19.65	0.9983572789978995	0.91714	0.18883	0.20441	N	AEFBI	0.095722	0.19336	N	-0.290515847983622	0.29512	1.637351	-0.293922467393298	0.28298	1.576831	0.186781275037378	0.17948	0.706548	0.73137	0	0.59043	0.45803	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.41	2.46	0.29032	0.104000	0.15148	1.189000	0.24752	0.676000	0.76740	0.600000	0.27747	1.000000	0.68203	0.996000	0.76049	0.4379:0.0:0.5621:0.0	7.062	0.24310	579	0.69780	Voltage-gated Na+ ion channel, cytoplasmic domain;Voltage-gated Na+ ion channel, cytoplasmic domain;.;.;.;.;Voltage-gated Na+ ion channel, cytoplasmic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2647	805.0	65	chr12	51706661	.	G	C	805.0	.	AC=9;AF=0.265;AN=34;BaseQRankSum=-2.321e+00;DP=1362;ExcessHet=4.7172;FS=136.953;InbreedingCoeff=-0.3697;MLEAC=10;MLEAF=0.294;MQ=60.00;MQRankSum=0.00;QD=1.42;ReadPosRankSum=1.14;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,19:68:99:.:.:163,0,844	8	0	9	4
chr12	51821816	51821816	C	G	exonic	FIGNL2	.	nonsynonymous SNV	FIGNL2:NM_001013690:exon2:c.G598C:p.A200P	.	.	396	1122	4	0	0	4	0.00177936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs562621326	0.0002	0.0002	0.0002	0.0002	0.0025	0.0002	0.0001	0.0020	0.0018	0	0.0001	0	0	0	0.0020	0.0001	0.0002	0.0025	0.0002	0.0002	0.0001	0.0002	0.0021	0.0001	9.284e-05	0.0011	0.0009	2.413e-05	0	6.576e-05	0	0.0002	9.664e-05	0	0.0001	0	0.0021	.	.	.	.	.	.	0.145	0.27759	B	0.125	0.32635	B	.	.	.	.	.	.	.	0.09	0.08384	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070072025	0.10143	T	.	.	.	.	.	.	.	.	.	0.4935402142987791	0.49275	.	.	0.900842189789	0.96533	D	0.024964	0.18762	T	.	.	.	.	.	.	.	.	.	0.736326	0.35288	T	0.17477985	0.38300	0.50952536	0.71655	0.17477985	0.38300	0.50952536	0.71656	-3.587	0.17669	T	.	.	0.086	0.11124	B	.;.	.;.	1.843283	0.23417	16.01	0.89040312938114563	0.18461	0.09501	0.15243	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.99999900208495	0.74766	0.206829	0.04106	0	0.059962	0.00310	0	0.209056	0.04548	0	0.062806	0.01542	0	0.856338	0.52334	3.63	2.72	0.31179	-0.387000	0.07419	2.527000	0.33149	0.485000	0.22221	0.000000	0.06391	0.861000	0.27489	0.038000	0.14061	0.0:0.9019:0.0:0.0981	11.564	0.50048	477	0.77662	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	125.08	17	chr12	51821816	.	C	G	125.08	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.205;DP=283;ExcessHet=0.0000;FS=2.463;InbreedingCoeff=-0.0314;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.37;ReadPosRankSum=-1.626e+00;SOR=0.760	GT:AD:DP:GQ:PL	0/0:12,0:12:36:0,36,348	20	0	1	0
chr12	51822178	51822178	G	C	exonic	FIGNL2	.	nonsynonymous SNV	FIGNL2:NM_001013690:exon2:c.C236G:p.A79G	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.038e-05	0	0	0	0	1.844e-05	0	0	6.5e-06	1	154602	rs140112751	1.987e-05	1.984e-05	1.636e-05	2.342e-05	2.332e-05	1.394e-05	1.205e-05	1.461e-05	1.228e-05	0	0	0	0	0	0	2.16e-05	4.979e-05	2.332e-05	3.942e-05	3.94e-05	1.285e-05	6.724e-05	7.349e-05	1.715e-05	1.129e-05	2.846e-05	1.858e-05	0	0	0	0	0	0	0.0032	7.349e-05	0	0	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	.	.	.	0.61	0.15665	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06336582	0.08245	T	.	.	.	.	.	.	.	.	.	0.14752070564543282	0.14674	.	.	0.343425214291	0.16951	T	0.003299	0.02708	T	.	.	.	.	.	.	.	.	.	0.649735	0.26051	T	0.055611514	0.10830	0.24660365	0.50173	0.055611514	0.10830	0.24660365	0.50172	-3.413	0.15232	T	.	.	0.067	0.02458	B	.;.	.;.	2.067146	0.26289	17.06	0.84251241404110522	0.15183	0.50320	0.28635	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999984969679	0.74766	0.255962	0.04286	0	0.085267	0.02369	0	0.217501	0.04623	0	0.092715	0.02821	0	0.771439	0.45670	4.78	3.87	0.43823	0.295000	0.18821	6.153000	0.54225	0.672000	0.70159	0.000000	0.06391	1.000000	0.68203	0.920000	0.45560	0.0:0.1515:0.8485:0.0	14.701	0.68771	473	0.77910	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2140.98	34	chr12	51822178	.	G	C	2140.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.600e-01;DP=874;ExcessHet=0.0000;FS=2.779;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=0.493;SOR=0.870	GT:AD:DP:GQ:PL	0/1:73,86:159:99:2155,0,1772	20	0	1	0
chr12	51890664	51890664	G	A	exonic	ANKRD33	.	nonsynonymous SNV	ANKRD33:NM_001304460:exon4:c.G136A:p.V46M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.891	P	0.148	N	1.000	N	2.11	M	0.71	T	-0.417	T	0.477	T	0.511	1.866	12.20	4.8	2.649	1.434	9.194	0.359	0.0733824760429	7.7e-05	.	6.806e-05	0.0002	8.77e-05	0	0	7.768e-05	0	0	5.82e-05	9	154602	rs368101868	2.268e-05	2.394e-05	1.916e-05	2.624e-05	0.0002	1.618e-05	1.423e-05	7.281e-05	5.16e-05	8.961e-05	0.0002	0.0001	0	0	0.0002	1.169e-05	8.285e-05	1.159e-05	6.564e-05	6.561e-05	7.707e-05	5.37e-05	0.0001	3.513e-05	2.614e-05	4.726e-05	3.045e-05	0.0001	0	6.532e-05	0.0009	0	0	0	1.47e-05	0	0	0.007	0.59928	D	0.01	0.65728	D	.	.	.	.	.	.	0.148183	0.18056	N	0.558017	1	0.08975	N	.	.	.	-0.91	0.75001	T	-1.73	0.43717	N	0.334	0.37509	-0.4174	0.71475	T	0.477	0.79966	T	10	0.20476136	0.36679	T	0.073382	0.71774	D	0.359	0.67962	.	.	0.792929212948	0.79100	0.5514651375383444	0.55072	0.272877571369	0.29797	0.423445880413	0.28311	T	.	.	.	-0.204236	0.20195	T	-0.23766	0.51028	T	0.10339268296957	0.12726	T	0.69753	0.30746	T	0.083980605	0.19417	0.12527585	0.30188	0.083980605	0.19417	0.12527585	0.30187	-7.723	0.66518	D	.	.	0.210	0.43828	B	.;.	.;.	3.725850	0.53274	23.3	0.99707313348036863	0.81074	0.22380	0.21727	N	AEFDBI	0.103105	0.20666	N	0.124380096835493	0.47602	2.98362	-0.0305994634116178	0.38339	2.257439	0.999771738013221	0.42865	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.8	4.8	0.61157	1.602000	0.36393	8.188000	0.76787	0.676000	0.76740	0.056000	0.21631	1.000000	0.68203	0.380000	0.26335	0.0974:0.0:0.9026:0.0	9.194	0.36379	397	0.82902	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3278.98	80	chr12	51890664	.	G	A	3278.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.22;DP=2819;ExcessHet=0.0000;FS=0.498;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.90;ReadPosRankSum=0.318;SOR=0.751	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1215	20	0	1	0
chr12	51891317	51891317	A	C	exonic	ANKRD33	.	nonsynonymous SNV	ANKRD33:NM_001304460:exon5:c.A589C:p.I197L	.	.	413	1104	5	0	0	5	0.00225938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.81	T	0.0	B	0.0	B	.	.	1.000	N	-1.39	N	2.39	T	-0.946	T	0.012	T	0.074	0.568	7.070	1.23	0.498	-0.389	5.560	0.043	0.00479824294883	7.7e-05	0.000399361	0.0004	0	0.0001	0	0	0.0006	0	0.0007	0.0003105	48	154602	rs202069826	0.0003	0.0003	0.0003	0.0004	0.0090	0.0003	0.0003	0.0071	0.0064	0.0004	0.0004	0.0007	0	0	0.0090	0.0003	0.0004	0.0004	0.0002	0.0002	0.0002	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	4.808e-05	0	0.0001	0.0006	0	0	0.0102	0.0003	0.0024	0.0006	1.0	0.00964	T	0.553	0.09329	T	.	.	.	.	.	.	.	.	.	.	0.999984	0.54805	D	.	.	.	2.39	0.15724	T	0.02	0.06739	N	0.077	0.05162	-0.9463	0.41599	T	0.012	0.04700	T	9	0.0109526515	0.00242	T	0.004798	0.12004	T	0.043	0.11576	0.282	0.23801	0.0920862733494	0.08535	.	.	.	.	.	.	.	.	.	.	-0.589317	0.00169	T	-0.760346	0.03100	T	0.0162121624619092	0.00395	T	0.30147	0.05685	T	.	.	.	.	.	.	.	.	-1.871	0.02729	T	.	.	0.064	0.01786	B	.	.	0.990111	0.13680	10.22	0.48166811053976233	0.03997	0.01146	0.04149	N	AEFDBI	0.018518	0.00567	N	-1.24167978989619	0.04410	0.1989825	-1.07112003228169	0.08272	0.4060316	0.739986204848549	0.23196	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.16	1.23	0.20358	0.198000	0.17018	-0.367000	0.09633	-0.254000	0.07082	0.154000	0.23713	0.000000	0.08366	0.860000	0.40782	0.5267:0.3752:0.0:0.0981	5.560	0.16423	397	0.82902	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1286.98	78	chr12	51891317	.	A	C	1286.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.434;DP=884;ExcessHet=0.0000;FS=0.897;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.50;ReadPosRankSum=-7.280e-01;SOR=0.838	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1215	20	0	1	0
chr12	52248734	52248734	G	A	exonic	KRT7	.	nonsynonymous SNV	KRT7:NM_005556:exon9:c.G1384A:p.A462T,	.	.	421	1087	13	1	0	15	0.00685244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.001	B	0.0	B	.	.	1.000	N	0.06	N	-1.58	D	-1.097	T	0.009	T	0.115	0.462	6.509	-1.63	-0.015	0.126	4.163	0.095	.	0.0002	0.0277556	0.0130	0.0001	0.0007	0.0952	0	7.866e-05	0.0085	0.0496	0.0114099	1764	154602	rs74761279	0.0054	0.0054	0.0044	0.0064	0.0914	0.0053	0.0053	0.0889	0.0878	0.0002	0.0003	0	0.0914	0	0.0017	0.0001	0.0074	0.0433	0.0051	0.0051	0.0037	0.0065	0.0972	0.0048	0.0047	0.0902	0.0874	0.0002	0	0.0003	0	0.0972	0	0	7.352e-05	0.0038	0.0510	1.0	0.00964	T	0.344	0.17804	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.695	0.01866	N	-1.58	0.81987	D	0.3	0.04091	N	0.075	0.04913	-1.0971	0.04460	T	0.009	0.03227	T	9	0.0016668141	0.00020	T	.	.	.	0.095	0.27398	.	.	.	.	0.4400526626391532	0.43922	0.269543108968	0.29473	0.259349256754	0.04814	T	0.056403	0.30278	T	-0.550562	0.00289	T	-0.476768	0.24791	T	0.000785969789610126	0.00007	T	0.241376	0.03476	T	0.018106438	0.00332	0.047727853	0.06937	0.018106438	0.00332	0.047727853	0.06937	-3.105	0.11353	T	.	.	0.067	0.02518	B	.	.	0.170227	0.05595	2.048	0.78760455704777255	0.12441	0.02893	0.07682	N	AEFDGBCI	0.048208	0.08201	N	-1.40721045940161	0.02575	0.1138847	-1.41359339509129	0.03115	0.1446979	0.999999789266397	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.493711	0.08198	1	0.645665	0.59343	0	.	.	4.32	-1.63	0.07900	0.108000	0.15232	.	.	-0.606000	0.04599	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3509:0.0:0.387:0.2621	4.163	0.09755	783	0.47268	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1603.11	36	chr12	52248734	.	G	A	1603.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.114;DP=796;ExcessHet=0.1072;FS=2.321;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.25;ReadPosRankSum=-1.770e-01;SOR=0.933	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1472	19	0	2	0
chr12	52286359	52286359	C	T	exonic	KRT81	.	nonsynonymous SNV	KRT81:NM_002281:exon9:c.G1414A:p.G472S,	Monilethrix, Autosomal dominant	.	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.124	B	0.025	B	0.074	U	0.991	N	0.69	N	-1.64	D	-0.672	T	0.322	T	0.306	2.211	13.35	4.33	2.118	0.495	8.676	0.183	0.103449997895	.	0.00159744	0.0016	0	0	0	0	0.0001	0	0.0038	0.0003622	56	154602	rs551755048	0.0003	0.0003	0.0002	0.0004	0.0044	0.0003	0.0003	0.0040	0.0039	0	2.769e-05	0	0	0	0.0002	5.551e-05	0.0003	0.0044	0.0002	0.0002	2.569e-05	0.0003	0.0048	0.0001	0.0001	0.0033	0.0028	4.81e-05	0	0	0	0	0	0	0	0.0005	0.0048	0.091	0.31834	T	0.119	0.36101	T	0.124	0.26825	B	0.025	0.20508	B	0.073595	0.21337	U	0.233853	0.990701	0.41217	D	0.445	0.12748	N	-1.64	0.82533	D	-0.24	0.10833	N	0.165	0.27792	-0.6722	0.61729	T	0.322	0.69090	T	10	0.0046119094	0.00096	T	0.10345	0.77749	D	0.183	0.45592	0.394	0.41935	0.40146981186	0.39757	0.05507913896772271	0.05448	0.373452143324	0.38813	0.22821007669	0.01838	T	0.020475	0.16118	T	-0.383666	0.02953	T	-0.325042	0.42019	T	0.0272337755853705	0.01577	T	0.669833	0.27843	T	0.02936082	0.02419	0.039100446	0.03927	0.02450666	0.01289	0.042376343	0.05030	-3.343	0.14298	T	.	.	0.076	0.05979	B	.;.	.;.	0.823809	0.11949	8.512	0.94559127418461941	0.25082	0.13056	0.17638	N	AEFDBHCI	0.061191	0.11680	N	-0.691073757863794	0.16275	0.8277246	-0.677347844844905	0.17527	0.9324072	0.999999972794379	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.33	4.33	0.51083	0.100000	0.15067	.	.	0.450000	0.21304	0.000000	0.06391	0.001000	0.17328	0.006000	0.07323	0.0:0.8919:0.0:0.1081	8.676	0.33343	753	0.51500	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1379.98	34	chr12	52286359	.	C	T	1379.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.555;DP=843;ExcessHet=0.0000;FS=1.581;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.27;ReadPosRankSum=1.52;SOR=0.783	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr12	52316545	52316545	G	A	exonic	KRT83	.	nonsynonymous SNV	KRT83:NM_002282:exon6:c.C964T:p.R322C,	.	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.977	D	0.001	N	0.891	D	1.46	L	-2.47	D	0.468	D	0.696	D	0.433	2.793	15.30	2.92	1.901	0.048	7.490	0.545	0.205327744427	7.7e-05	0.00119808	0.0004	0	0	0	0	1.499e-05	0	0.0030	0.0003622	56	154602	rs145387028	0.0001	0.0001	8.848e-05	0.0002	0.0020	0.0001	0.0001	0.0017	0.0017	0	0	0	2.519e-05	0	0	9.892e-06	0.0002	0.0020	9.862e-05	9.844e-05	5.143e-05	0.0001	0.0027	6.01e-05	4.882e-05	0.0016	0.0013	0	0	0	0	0	0	0	2.942e-05	0	0.0027	0.003	0.68238	D	0.113	0.36901	T	0.999	0.77913	D	0.977	0.73820	D	0.001023	0.40562	N	0.000000	0.890921	0.35951	D	.	.	.	-2.47	0.88997	D	-4.37	0.77061	D	0.486	0.52029	0.468	0.90089	D	0.696	0.89503	D	10	0.018409401	0.00400	T	0.205328	0.86979	D	0.545	0.81077	.	.	0.793988113507	0.79207	0.09489732771148295	0.09421	0.468642469395	0.46202	0.458818137646	0.33148	T	0.345811	0.71415	T	-0.269756	0.11784	T	-0.16612	0.57798	T	0.169984915282516	0.18579	T	0.842016	0.51794	T	0.29289332	0.52260	0.26872277	0.52744	0.29289332	0.52260	0.26872277	0.52743	-6.129	0.47346	T	0.2449854675904513	0.33183	0.132	0.28377	B	.	.	4.526214	0.71015	25.6	0.99909593193157575	0.97949	0.14538	0.18456	N	AEFGBI	0.136246	0.25684	N	0.150820760015705	0.48852	3.092308	0.0386682285124326	0.41529	2.496392	0.789561314137073	0.23991	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.89	2.92	0.32998	-0.068000	0.11519	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.0:0.1263:0.5541:0.3196	7.490	0.26625	713	0.56348	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4459.98	39	chr12	52316545	.	G	A	4459.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.38;DP=3286;ExcessHet=0.0000;FS=0.407;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.98;ReadPosRankSum=-9.300e-01;SOR=0.649	GT:AD:DP:GQ:PL	0/0:222,0:222:99:0,120,1800	20	0	1	0
chr12	52316946	52316946	C	T	exonic	KRT83	.	nonsynonymous SNV	KRT83:NM_002282:exon5:c.G828A:p.M276I,	.	.	0	1516	6	0	0	6	0.00197498	.	.	870094	Beaded_hair	Human_Phenotype_Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000,Orphanet:573	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.639	P	0.619	P	0.000	U	0.992	D	2.135	M	-2.39	D	0.688	D	0.743	D	0.416	4.124	21.3	3.9	1.894	3.074	16.246	0.606	0.0200738903503	.	.	0.0002	0	8.637e-05	0	0	0.0001	0	0.0012	0.0002005	31	154602	rs200274404	0.0002	0.0002	0.0001	0.0002	0.0035	0.0001	0.0001	0.0023	0.0019	0	2.236e-05	0	0	0	0.0035	6.924e-05	0.0004	0.0011	7.886e-05	7.88e-05	7.708e-05	8.072e-05	0.0008	4.497e-05	3.513e-05	0.0003	0.0002	0	0	0	0	0	0	0	0.0001	0	0.0008	0.005	0.63226	D	0.019	0.59159	D	0.639	0.40375	P	0.619	0.51356	P	0.000122	0.49741	U	0.000000	0.992474	0.41655	D	.	.	.	-2.39	0.88377	D	-1.94	0.45042	N	0.591	0.61087	0.688	0.93024	D	0.743	0.91224	D	10	0.33498412	0.50663	T	0.020074	0.42586	T	0.606	0.84506	0.59	0.71874	0.803666485082	0.80183	0.11303868258792882	0.11231	0.102096443084	0.11564	0.419970810413	0.27832	T	0.298602	0.67116	T	-0.188667	0.22454	T	-0.100132	0.63388	T	0.155461536979989	0.17530	T	0.739226	0.35772	T	0.52518207	0.68556	0.4589961	0.68570	0.52518207	0.68557	0.4589961	0.68570	-7.451	0.57265	T	0.3354444221350273	0.43337	0.656	0.71148	P	.	.	4.090573	0.60914	24.3	0.99716115820298912	0.81703	0.93871	0.59432	D	AEFDGBI	0.625727	0.60881	D	0.344888932570587	0.58469	4.019445	0.333507281184009	0.57519	3.917973	0.999999947589538	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.9	3.9	0.44240	3.888000	0.55917	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	16.246	0.82269	717	0.55835	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4065.98	39	chr12	52316946	.	C	T	4065.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.889e+00;DP=2286;ExcessHet=0.0000;FS=5.367;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.94;MQRankSum=-1.970e-01;QD=10.96;ReadPosRankSum=0.790;SOR=0.947	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:86,0:86:99:.:.:0,120,1800	20	0	1	0
chr12	52316960	52316960	G	A	exonic	KRT83	.	nonsynonymous SNV	KRT83:NM_002282:exon5:c.C814T:p.R272W,	.	YES	0	1521	1	0	0	1	0.000328623	.	.	3269532	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.115	B	0.178	B	0.002	U	0.996	D	3.695	H	-1.13	T	0.095	D	0.564	D	0.848	2.954	15.85	2.99	0.739	3.719	12.956	0.662	0.021760423153	.	.	7.413e-05	9.61e-05	0	0	0	8.99e-05	0.0022	0	7.12e-05	11	154602	rs775360623	0.0001	0.0001	0.0001	0.0001	0.0005	9.468e-05	8.949e-05	0.0001	9.742e-05	2.987e-05	2.236e-05	0	0	1.872e-05	0.0005	0.0001	0.0003	1.159e-05	0.0001	0.0001	0.0001	8.073e-05	0.0002	6.514e-05	5.325e-05	9.048e-05	7.012e-05	9.659e-05	0	6.545e-05	0	0	0	0	0.0002	0	0	0.025	0.47320	D	0.018	0.59732	D	0.115	0.26429	B	0.178	0.35748	B	0.002039	0.37411	U	0.000000	0.99625	0.43101	D	.	.	.	-1.13	0.77719	T	-6.6	0.92042	D	0.818	0.81360	0.095	0.84076	D	0.564	0.84175	D	10	0.8922057	0.88565	D	0.02176	0.44572	T	0.662	0.87381	.	.	0.687612352757	0.68493	0.12652405071233017	0.12578	0.19407768527	0.21745	0.536508619785	0.43953	T	0.547425	0.84614	D	0.118226	0.66193	D	0.147382	0.80018	D	0.485309281662013	0.32092	T	0.915808	0.69967	D	0.62397826	0.73976	0.55902416	0.74488	0.62397826	0.73977	0.55902416	0.74489	-7.968	0.60852	D	0.5009849753343736	0.57620	0.330	0.55201	B	.	.	3.810288	0.54953	23.6	0.99824732761495349	0.90677	0.95320	0.64263	D	AEFDGBI	0.743830	0.68701	D	0.138014001085246	0.48245	3.039245	0.134001119536022	0.46299	2.878209	0.999993815130965	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.9	2.99	0.33673	3.220000	0.50909	.	.	0.676000	0.76740	1.000000	0.71638	0.012000	0.20211	0.997000	0.79791	0.0:0.0:0.8366:0.1634	12.956	0.57824	717	0.55835	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4426.98	39	chr12	52316960	.	G	A	4426.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=2048;ExcessHet=0.0000;FS=0.837;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=-1.000e+00;QD=13.42;ReadPosRankSum=1.65;SOR=0.626	GT:AD:DP:GQ:PL	0/0:86,0:86:99:0,120,1800	20	0	1	0
chr12	52319162	52319162	T	C	exonic	KRT83	.	nonsynonymous SNV	KRT83:NM_002282:exon2:c.A587G:p.K196R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.529	P	0.521	P	0.000	U	0.750	D	1.195	L	-2.33	D	0.206	D	0.564	D	0.218	3.794	19.26	3.5	0.744	4.164	8.612	0.425	0.0174844414064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	1.362e-06	2.752e-06	0.0004	5.5e-07	1.5e-07	6.855e-05	2.867e-05	0	0	0	0	0	0.0004	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.075	0.42794	T	0.529	0.37682	P	0.521	0.48239	P	0.000419	0.44736	U	0.000000	0.750071	0.33919	D	.	.	.	-2.33	0.87910	D	-2.56	0.55339	D	0.225	0.25253	0.206	0.86003	D	0.564	0.84166	D	10	0.31852698	0.49250	T	0.017484	0.39195	T	0.425	0.73299	0.643	0.78010	0.723554537112	0.72111	0.063732512748604	0.06312	0.104607782887	0.11836	0.705341339111	0.67917	T	0.447979	0.79003	T	0.000149996	0.51675	T	-0.237561	0.51036	T	0.922747015953064	0.58304	D	0.833117	0.50161	T	0.2755499	0.50619	0.31527078	0.57514	0.2755499	0.50618	0.31527078	0.57513	-6.428	0.49728	T	0.25223272278881936	0.34127	0.070	0.03661	B	.	.	3.345971	0.46131	22.2	0.998556691654918	0.93458	0.88650	0.48678	D	AEFDGBCI	0.639460	0.61750	D	0.109189408415472	0.46892	2.922636	0.156431556480403	0.47483	2.977898	0.999925732862834	0.46280	0.59774	0.34471	0	0.563428	0.19063	0	0.578056	0.29568	0	0.63947	0.58350	0	.	.	4.66	3.5	0.39181	3.454000	0.52750	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.159:0.0:0.841	8.612	0.32968	724	0.55085	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1048.98	35	chr12	52319162	.	T	C	1048.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.668;DP=1190;ExcessHet=0.0000;FS=3.158;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=-6.920e-01;SOR=0.399	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	20	0	1	0
chr12	52385056	52385056	G	C	exonic	KRT84	.	nonsynonymous SNV	KRT84:NM_033045:exon1:c.C530G:p.A177G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.605	H	-3.65	D	1.078	D	0.938	D	0.649	4.170	21.6	5.03	2.790	7.811	18.936	0.891	0.176906474143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.789e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000138	0.49741	D	0.000000	0.999991	0.58761	D	4.095	0.97289	H	-3.65	0.95179	D	-3.64	0.69835	D	0.853	0.84922	1.078	0.98810	D	0.938	0.97975	D	10	0.9246705	0.91817	D	0.176906	0.85252	D	0.891	0.96873	0.771	0.89767	0.975966307224	0.97570	0.5387444611866561	0.53799	0.219873754163	0.24531	0.673947811127	0.63400	T	0.575528	0.86016	D	0.322749	0.84668	D	0.22583	0.84466	D	0.999502182006836	0.97675	D	0.952205	0.81731	D	0.8957342	0.91004	0.85471135	0.91821	0.8957342	0.91006	0.85471135	0.91822	-10.131	0.74692	D	.	.	0.640	0.70527	P	.	.	5.271504	0.88515	29.6	0.99726064184576435	0.82406	0.98882	0.88116	D	AEFGBI	0.935306	0.92997	D	0.970799222495421	0.94775	13.02873	0.876790821287214	0.94479	12.79379	0.999999999999533	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.03	5.03	0.67015	8.140000	0.89528	.	.	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.936	0.92560	633	0.64743	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	105.9	102	chr12	52385056	.	G	C	105.9	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-3.565e+00;DP=1552;ExcessHet=0.1072;FS=263.710;InbreedingCoeff=-0.0667;MLEAC=2;MLEAF=0.050;MQ=60.00;MQRankSum=0.00;QD=0.53;ReadPosRankSum=0.933;SOR=9.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:50,0:50:99:.:.:0,105,1575	18	0	2	1
chr12	52396963	52396963	G	A	exonic	KRT82	.	nonsynonymous SNV	KRT82:NM_033033:exon6:c.C988T:p.R330C,	.	.	424	1081	17	0	0	17	0.00780174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.127	B	0.063	B	0.000	D	0.983	D	3.26	M	-2.63	D	0.394	D	0.722	D	0.365	3.077	16.27	4.25	1.323	1.288	7.722	0.460	0.141688595386	0.0011	0.000599042	0.0010	0.0017	0.0002	0	0.0002	0.0011	0.0022	0.0012	0.000925	143	154602	rs139209735	0.0006	0.0006	0.0006	0.0007	0.0042	0.0006	0.0006	0.0029	0.0024	0.0011	0.0004	0.0008	0	0.0001	0.0042	0.0006	0.0008	0.0012	0.0008	0.0008	0.0007	0.0009	0.0012	0.0007	0.0006	0.0007	0.0006	0.0009	0.0022	0.0003	0.0003	0	0.0006	0.0068	0.0008	0.0033	0.0012	0.017	0.51248	D	0.022	0.57587	D	0.127	0.26966	B	0.063	0.27082	B	0.000076	0.52346	D	0.000000	0.983455	0.40016	D	2.705	0.79137	M	-2.63	0.90083	D	-7.02	0.93786	D	0.297	0.33578	0.394	0.89000	D	0.722	0.90459	D	10	0.031328857	0.01267	T	0.141689	0.82410	D	0.460	0.75755	.	.	0.767735741357	0.76561	0.41788241260701847	0.41704	0.0826830038412	0.09327	0.361032187939	0.19536	T	0.555079	0.85004	D	-0.22638	0.17130	T	-0.138489	0.60249	T	0.0746199953984784	0.09285	T	0.913709	0.69301	D	0.3118815	0.53948	0.3581836	0.61299	0.3118815	0.53948	0.3581836	0.61299	-6.398	0.49494	T	.	.	0.123	0.25850	B	.	.	3.993923	0.58801	24.0	0.99823176131405977	0.90590	0.38310	0.25959	N	AEFBI	0.217225	0.34238	N	-0.0392781722324125	0.40083	2.374399	-0.0199253544056693	0.38817	2.292352	0.275181053958315	0.18933	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	4.25	0.49658	1.335000	0.33444	.	.	0.676000	0.76740	0.012000	0.18695	1.000000	0.68203	0.993000	0.69303	0.0836:0.0:0.7549:0.1616	7.722	0.27901	778	0.48011	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	804.98	35	chr12	52396963	.	G	A	804.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.71;DP=772;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.88;ReadPosRankSum=-7.780e-01;SOR=0.773	GT:AD:DP:GQ:PL	0/1:41,33:74:99:819,0,966	20	0	1	0
chr12	52403762	52403762	G	A	exonic	KRT82	.	nonsynonymous SNV	KRT82:NM_033033:exon2:c.C559T:p.R187C,	.	.	422	1094	6	0	0	6	0.00273473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.803	P	0.153	N	0.996	N	3.06	M	-2.71	D	0.420	D	0.837	D	0.313	3.169	16.60	5.21	2.595	0.721	14.030	0.350	0.0245991884365	.	.	0.0002	0	8.66e-05	0	0	9.113e-05	0	0.0010	0.0001617	25	154602	rs200534923	0.0001	0.0001	0.0001	0.0002	0.0033	0.0001	0.0001	0.0022	0.0018	2.987e-05	2.236e-05	0	0	1.898e-05	0.0033	6.385e-05	0.0004	0.0010	4.601e-05	4.597e-05	3.855e-05	5.383e-05	0.0006	2.11e-05	1.527e-05	0.0002	9.007e-05	0	0	0	0	0	0	0	5.881e-05	0	0.0006	0.003	0.68238	D	0.0	0.92824	D	0.999	0.77913	D	0.803	0.58300	P	0.153204	0.17899	N	0.468598	0.995549	0.23263	N	3.225	0.89467	M	-2.71	0.90566	D	-3.52	0.68412	D	0.468	0.50418	0.420	0.89400	D	0.837	0.94553	D	10	0.29122502	0.46702	T	0.024599	0.47587	T	0.350	0.67142	.	.	0.784076694291	0.78207	0.4598166585064107	0.45899	0.350133243854	0.36858	0.321816921234	0.13697	T	0.599649	0.87150	D	-0.212387	0.19043	T	-0.142611	0.59892	T	0.268712860659491	0.23692	T	0.980902	0.93438	D	0.21049656	0.43348	0.3022708	0.56259	0.21049656	0.43348	0.3022708	0.56258	-8.813	0.66485	D	.	.	0.148	0.32589	B	.	.	4.066812	0.60390	24.2	0.99901829112285012	0.97350	0.51087	0.28814	D	AEFDBI	0.451174	0.50526	N	0.212462700071643	0.51802	3.358754	0.0299101940547441	0.41112	2.464435	0.999998096691471	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.21	5.21	0.72005	2.764000	0.47295	.	.	0.676000	0.76740	0.199000	0.24297	1.000000	0.68203	0.029000	0.12982	0.0:0.0:0.8488:0.1512	14.030	0.64125	773	0.48803	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1962.98	33	chr12	52403762	.	G	A	1962.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.46;DP=849;ExcessHet=0.0000;FS=2.870;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=1.66;SOR=0.825	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1203	20	0	1	0
chr12	52434189	52434189	C	T	exonic	KRT75	.	nonsynonymous SNV	KRT75:NM_004693:exon1:c.G116A:p.R39H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.011	B	0.002	B	0.036	N	1.000	N	1.585	L	-1.66	D	-0.760	T	0.376	T	0.158	0.326	5.770	-0.378	-0.367	-0.144	11.616	0.141	0.0493273102866	0.0002	0.000399361	0.0003	0	0	0.0001	0	0	0	0.0028	0.0002846	44	154602	rs143818894	0.0001	0.0001	9.826e-05	0.0002	0.0020	0.0001	0.0001	0.0018	0.0017	8.976e-05	2.246e-05	0	0.0001	0	0.0002	6.312e-06	0.0003	0.0020	7.88e-05	7.874e-05	5.14e-05	0.0001	0.0019	4.494e-05	3.51e-05	0.0010	0.0007	4.813e-05	0	0	0	0	0	0	1.47e-05	0	0.0019	0.091	0.31834	T	0.115	0.36630	T	0.011	0.15914	B	0.002	0.06944	B	0.035766	0.24603	N	0.348277	0.999589	0.20930	N	1.705	0.44259	L	-1.66	0.82715	D	-2.27	0.50666	N	0.102	0.08506	-0.7598	0.57416	T	0.376	0.73408	T	10	0.0071029663	0.00162	T	0.049327	0.63763	D	0.141	0.37795	.	.	0.232513804876	0.22884	0.3020058916341324	0.30113	0.109607046255	0.12361	0.230933874846	0.02038	T	0.281143	0.65386	T	-0.41593	0.01817	T	-0.375779	0.36215	T	0.0223205357431508	0.00945	T	0.209279	0.02517	T	0.041426156	0.06099	0.048019756	0.07045	0.041426156	0.06099	0.048019756	0.07044	-8.344	0.63391	D	.	.	0.112	0.22024	B	.	.	1.023592	0.14032	10.60	0.93817742159161688	0.23797	0.12570	0.17349	N	AEFDGBI	0.088135	0.17868	N	-1.19790209568339	0.05032	0.2284513	-1.22930614771923	0.05445	0.2594304	0.999907456616253	0.45458	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.74	-0.378	0.11875	0.172000	0.16518	.	.	-0.800000	0.03169	0.006000	0.17386	0.906000	0.28050	0.021000	0.11733	0.0:0.5523:0.0:0.4477	11.616	0.50348	743	0.52768	Keratin type II head	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1039.98	39	chr12	52434189	.	C	T	1039.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.498;DP=835;ExcessHet=0.0000;FS=0.872;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=-5.490e-01;SOR=0.900	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	20	0	1	0
chr12	52472120	52472120	C	T	exonic	KRT6C	.	nonsynonymous SNV	KRT6C:NM_173086:exon2:c.G701A:p.R234H,	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, Autosomal dominant	.	4	1509	9	0	0	9	0.00297324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.739	P	0.315	B	0.003	N	0.684	D	3.215	M	-2.69	D	0.324	D	0.494	T	0.195	2.760	15.19	1.97	0.739	0.500	10.931	0.391	.	0.0091	0.014976	0.0055	0.0271	0.0012	0.0001	0	1.5e-05	0.0033	0.0223	0.0050387	779	154602	rs12298348	0.0022	0.0022	0.0018	0.0026	0.0293	0.0021	0.0021	0.0278	0.0272	0.0293	0.0016	0	0.0001	0	0.0007	2.972e-05	0.0032	0.0220	0.0092	0.0091	0.0093	0.0092	0.0277	0.0088	0.0087	0.0263	0.0258	0.0277	0	0.0031	0	0	0	0	0.0001	0.0063	0.0260	0.029	0.45756	D	0.048	0.48594	D	0.739	0.42933	P	0.315	0.41566	B	0.003051	0.35512	N	0.120124	0.683699	0.33258	D	3.59	0.93643	H	-2.69	0.90451	D	-3.57	0.68999	D	0.233	0.26233	0.324	0.87941	D	0.494	0.80816	T	10	0.0150616765	0.00316	T	.	.	.	0.391	0.70684	.	.	0.913023533516	0.91214	0.0873713472090093	0.08670	0.265220192054	0.29077	0.42339476943	0.28303	T	0.504278	0.82343	D	-0.336793	0.05613	T	-0.234926	0.51292	T	0.0784015270947247	0.09781	T	0.29767	0.05533	T	0.17274044	0.37982	0.14110956	0.33614	0.17274044	0.37982	0.14110956	0.33613	-6.521	0.50449	T	0.2396590508107426	0.32462	0.098	0.16275	B	.	.	2.431327	0.31276	18.69	0.99589067448130575	0.73513	0.26957	0.23141	N	AEFBI	0.080426	0.16261	N	-0.120609971236893	0.36496	2.110345	-0.281446563340952	0.28708	1.602832	2.43079738508779E-4	0.06141	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.89	1.97	0.25278	0.315000	0.19200	.	.	0.580000	0.29708	0.566000	0.27473	0.000000	0.08366	0.028000	0.12845	0.0:0.9016:0.0:0.0984	10.931	0.46432	678	0.60190	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	4118.98	36	chr12	52472120	.	C	T	4118.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.264e+00;DP=1800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.55;MQRankSum=0.301;QD=12.75;ReadPosRankSum=-6.150e-01;SOR=0.674	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr12	52472156	52472156	C	A	exonic	KRT6C	.	nonsynonymous SNV	KRT6C:NM_173086:exon2:c.G665T:p.R222M,	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, Autosomal dominant	.	5	1507	7	3	0	13	0.00429468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.948	P	0.837	P	0.001	D	0.626	D	4.16	H	-3.14	D	0.773	D	0.873	D	0.569	2.696	14.98	0.988	0.246	3.091	5.209	0.585	.	7.7e-05	0.0071885	0.0037	0.0002	0.0003	0.0002	0	0	0.0012	0.0257	0.0030853	477	154602	rs145109130	0.0015	0.0015	0.0009	0.0022	0.0236	0.0015	0.0015	0.0228	0.0224	0.0001	0	0	8.417e-05	0	0.0007	4.802e-06	0.0017	0.0236	0.0009	0.0009	0.0005	0.0013	0.0273	0.0008	0.0007	0.0233	0.0218	9.757e-05	0	7.315e-05	0	0	0	0	0	0	0.0273	0.0	0.91255	D	0.0	0.92824	D	0.948	0.53620	P	0.837	0.59984	P	0.000588	0.43095	D	0.093954	0.625803	0.32745	D	4.435	0.98769	H	-3.14	0.92884	D	-4.93	0.81755	D	0.679	0.68603	0.773	0.94073	D	0.873	0.95772	D	10	0.014105052	0.00297	T	.	.	.	0.585	0.83360	.	.	0.950245543017	0.94972	0.4227468652787686	0.42191	0.722490668574	0.62282	0.592970728874	0.51914	T	0.740988	0.92826	D	-0.00838544	0.50491	T	0.0296135	0.72253	D	0.208226002218476	0.20860	T	0.60384	0.22664	T	0.6016188	0.72778	0.49737337	0.70936	0.6016188	0.72779	0.49737337	0.70936	-14.071	0.93284	D	0.8175681854124669	0.89125	0.716	0.73608	P	.	.	3.937120	0.57590	23.9	0.96189453821093907	0.28985	0.57912	0.30501	D	AEFBI	0.343479	0.43928	N	0.144519980486231	0.48554	3.066155	-0.147154310587684	0.33518	1.91813	3.7575152155532E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.89	0.988	0.18914	2.645000	0.46287	.	.	0.580000	0.29708	0.033000	0.20612	0.000000	0.08366	0.994000	0.71098	0.0:0.6333:0.1709:0.1958	5.209	0.14629	678	0.60190	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	4355.98	123	chr12	52472156	.	C	A	4355.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.498e+00;DP=2255;ExcessHet=0.0000;FS=0.784;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.39;MQRankSum=-6.780e-01;QD=11.55;ReadPosRankSum=0.352;SOR=0.644	GT:AD:DP:GQ:PL	0/0:21,0:21:60:0,60,900	20	0	1	0
chr12	52473676	52473676	T	C	exonic	KRT6C	.	nonsynonymous SNV	KRT6C:NM_173086:exon1:c.A62G:p.N21S,	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, Autosomal dominant	.	0	1479	43	0	0	43	0.0143286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.0	B	0.0	B	0.663	N	1.000	N	-0.735	N	-0.89	T	-0.995	T	0.126	T	0.071	-1.274	0.044	2.04	0.780	-0.443	7.055	0.145	0.0237197188592	.	.	0.0004	0.0020	0.0004	0.0002	0	0.0002	0	0.0002	3.84e-05	1	26028	rs757116227	0.0023	0.0086	0.0023	0.0023	0.0218	0.0023	0.0022	0.0204	0.0199	0.0218	0.0141	0.0002	0.0037	7.506e-05	0.0031	0.0011	0.0027	0.0066	0.0029	0.0094	0.0027	0.0032	0.0087	0.0027	0.0026	0.0079	0.0076	0.0087	0	0.0033	0	0.0022	9.535e-05	0	0.0004	0.0010	0.0036	1.0	0.00964	T	0.54	0.09760	T	0.0	0.02946	B	0.0	0.01387	B	0.663456	0.10407	N	0.860801	1	0.08975	N	-0.64	0.02118	N	-0.89	0.74793	T	1.21	0.01064	N	0.075	0.04913	-0.9952	0.31245	T	0.126	0.43070	T	10	0.016490638	0.00348	T	0.02372	0.46692	T	0.145	0.38592	.	.	0.370240404367	0.36630	0.03666397461304288	0.03613	1.29320391004	0.82848	0.433197557926	0.29646	T	0.004361	0.03768	T	-0.249183	0.14198	T	-0.595711	0.13174	T	0.00825019784137431	0.00099	T	0.0964904	0.00716	T	0.03286239	0.03392	0.03956325	0.04079	0.03286239	0.03391	0.03956325	0.04078	2.324	0.00038	T	.	.	0.043	0.00028	B	.	.	0.054250	0.04668	1.318	0.61138517215947952	0.06635	0.01666	0.05334	N	AEFBI	0.024479	0.01522	N	-1.23179637125951	0.04545	0.2053596	-1.1414974819975	0.06922	0.3348353	8.84291523541453E-4	0.07960	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.93	2.04	0.25787	-0.605000	0.05757	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.233000	0.22815	0.0:0.6453:0.2451:0.1096	7.055	0.24274	682	0.59757	Keratin type II head	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	463.75	43	chr12	52473676	.	T	C	463.75	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.778;DP=1014;ExcessHet=0.3300;FS=41.120;InbreedingCoeff=-0.0732;MLEAC=2;MLEAF=0.048;MQ=49.95;MQRankSum=-3.997e+00;QD=1.47;ReadPosRankSum=-1.084e+00;SOR=2.019	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1171	18	0	3	0
chr12	52544728	52544728	G	C	exonic	KRT71	.	nonsynonymous SNV	KRT71:NM_033448:exon9:c.C1376G:p.T459S,	.	.	424	1097	1	0	0	1	0.000455581	.	.	725156	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.002	B	0.003	B	0.002	U	0.953	N	-0.92	N	-1.34	T	-1.011	T	0.086	T	0.096	-0.865	0.513	4.07	1.978	2.316	12.112	0.196	.	0.0069	0.00678914	0.0023	0.0249	0.0010	0	0	0.0002	0.0012	0.0001	0.0020957	324	154602	rs112987888	0.0008	0.0008	0.0009	0.0007	0.0251	0.0008	0.0008	0.0237	0.0232	0.0251	0.0014	0	0	0	0.0018	0.0001	0.0024	0.0001	0.0075	0.0075	0.0075	0.0075	0.0254	0.0071	0.0070	0.0242	0.0236	0.0254	0	0.0035	0	0	0	0.0102	0.0002	0.0047	0.0002	0.686	0.04353	T	0.862	0.03390	T	0.002	0.09854	B	0.003	0.08700	B	0.001859	0.37840	U	0.000000	0.953301	0.26409	N	1.185	0.30054	L	-1.34	0.79944	T	-0.54	0.16598	N	0.207	0.22998	-1.0113	0.26510	T	0.086	0.33522	T	10	0.003920436	0.00075	T	.	.	.	0.196	0.47777	0.336	0.32491	0.749575828606	0.74732	0.42121164281473006	0.42037	0.0808308102781	0.09095	0.455821931362	0.32739	T	0.015601	0.13056	T	-0.427646	0.01532	T	-0.368136	0.37106	T	0.0334402228060897	0.02544	T	0.0394961	0.00273	T	0.10383771	0.24543	0.13950782	0.33283	0.10381668	0.24538	0.14571397	0.34547	-3.039	0.10607	T	0.07426321399509274	0.03204	0.064	0.01600	B	.	.	2.007315	0.25509	16.79	0.6856506733244554	0.08697	0.81948	0.41254	D	AEFDGBHCI	0.236590	0.35902	N	-0.61030243881601	0.18633	0.9690115	-0.3687034221204	0.25936	1.429414	0.999996731040295	0.74766	0.422189	0.06491	0	0.563428	0.19063	0	0.600433	0.31921	0	0.613276	0.41899	0	.	.	4.07	4.07	0.46726	2.539000	0.45377	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.0:1.0:0.0	12.112	0.53147	856	0.34373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	605.98	34	chr12	52544728	.	G	C	605.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=843;ExcessHet=0.0000;FS=1.452;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.83;ReadPosRankSum=-9.910e-01;SOR=1.139	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr12	52548250	52548250	T	C	exonic	KRT71	.	nonsynonymous SNV	KRT71:NM_033448:exon5:c.A880G:p.N294D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.006	B	0.162	N	1.000	N	0.02	N	-0.89	T	-1.002	T	0.115	T	0.011	-0.117	3.425	0.24	0.018	-0.115	1.622	0.081	0.00512002215865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.633	0.05106	T	0.801	0.04054	T	0.0	0.02946	B	0.006	0.12133	B	0.161566	0.17647	N	0.468625	1	0.08975	N	-0.67	0.02046	N	-0.89	0.74793	T	-0.41	0.14000	N	0.207	0.22998	-1.0019	0.29372	T	0.115	0.40763	T	10	0.09029421	0.15716	T	0.00512	0.13001	T	0.081	0.23632	0.439	0.49321	0.420570264827	0.41677	0.07892131652301321	0.07827	0.103124469384	0.11663	0.276208102703	0.06969	T	0.17122	0.51926	T	-0.265103	0.12308	T	-0.618579	0.11297	T	0.052764967083931	0.05979	T	0.156584	0.01380	T	0.099944495	0.23592	0.043668333	0.05483	0.099944495	0.23592	0.043668333	0.05483	-5.93	0.45690	T	0.07733515736959765	0.03613	0.072	0.04316	B	.	.	1.628222	0.20790	14.91	0.77099051680011654	0.11736	0.04335	0.09896	N	AEFDBI	0.080321	0.16236	N	-1.11272090459569	0.06415	0.2952631	-1.04230595215641	0.08868	0.4381646	0.77498683379545	0.23737	0.486886	0.10167	0	0.586423	0.34054	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.3	0.24	0.14750	0.729000	0.25696	.	.	0.644000	0.52426	0.272000	0.25065	0.018000	0.20648	0.780000	0.36908	0.1662:0.4516:0.1675:0.2148	1.622	0.02552	856	0.34373	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	848.98	47	chr12	52548250	.	T	C	848.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.511e+00;DP=1172;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.58;ReadPosRankSum=0.039;SOR=0.746	GT:AD:DP:GQ:PL	0/0:65,0:65:99:0,120,1800	20	0	1	0
chr12	52568266	52568266	G	A	exonic	KRT74	.	nonsynonymous SNV	KRT74:NM_175053:exon7:c.C1258T:p.R420W,	Woolly hair, autosomal dominant, Autosomal dominant	.	0	1494	26	2	0	30	0.00994036	.	.	702378	KRT74-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.094	N	0.715	D	3.14	M	-2.67	D	0.707	D	0.783	D	0.572	3.548	18.10	3.66	1.216	0.520	5.128	0.439	0.0371077473507	0.0035	0.00279553	0.0036	0.0009	0.0038	0.0002	0.0003	0.0051	0.0022	0.0020	0.0039003	603	154602	rs139723680	0.0048	0.0048	0.0048	0.0048	0.0142	0.0047	0.0046	0.0117	0.0108	0.0007	0.0052	0.0055	7.557e-05	0.0008	0.0142	0.0053	0.0057	0.0021	0.0042	0.0042	0.0040	0.0045	0.0111	0.0040	0.0038	0.0097	0.0092	0.0009	0	0.0111	0.0043	0	0.0005	0.0034	0.0057	0.0061	0.0033	0.001	0.78490	D	0.037	0.51737	D	1.0	0.90584	D	0.997	0.86255	D	0.094164	0.20186	N	0.264219	0.715033	0.33558	D	3.03	0.86425	M	-2.67	0.90332	D	-7.6	0.95336	D	0.55	0.57604	0.707	0.93259	D	0.783	0.92617	D	10	0.03341353	0.01517	T	0.037108	0.57411	D	0.439	0.74306	.	.	0.700973683922	0.69838	0.2590875676119922	0.25822	0.149219269758	0.16824	0.282069683075	0.07783	T	0.77737	0.94091	D	-0.207277	0.19766	T	-0.0645427	0.66013	T	0.0687646594375696	0.08477	T	0.885311	0.61533	D	0.45637673	0.64445	0.5756772	0.75417	0.43675998	0.63193	0.4716973	0.69371	-9.176	0.68823	D	0.5263241318965546	0.59783	0.122	0.25495	B	.;.	.;.	3.852226	0.55811	23.7	0.999219758694875	0.98787	0.39268	0.26175	N	AEFBI	0.513523	0.54128	D	0.394544405660495	0.61126	4.309609	0.234087644980011	0.51750	3.354782	0.0014580272989168	0.08551	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.57	3.66	0.41111	0.044000	0.13876	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.713000	0.34548	0.0872:0.1474:0.6135:0.1519	5.128	0.14227	846	0.36215	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	7128.08	34	chr12	52568266	.	G	A	7128.08	.	AC=2;AF=0.048;AN=42;DP=925;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.55;SOR=0.992	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1402	20	1	0	0
chr12	52571381	52571381	A	G	exonic	KRT74	.	nonsynonymous SNV	KRT74:NM_175053:exon4:c.T821C:p.F274S,	Woolly hair, autosomal dominant, Autosomal dominant	.	0	1504	18	0	0	18	0.00594845	.	.	102652	KRT74-related_disorder|Ectodermal_dysplasia_7,_hair/nail_type|not_provided|Ectodermal_dysplasia_4,_hair/nail_type	.|MONDO:MONDO:0013975,MedGen:C3554117,OMIM:614929,Orphanet:69084|MedGen:C3661900|MONDO:MONDO:0011177,MedGen:CN029917,OMIM:602032,Orphanet:69084	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.978	D	0.002	N	1.000	D	4.22	H	-2.93	D	1.083	D	0.922	D	0.922	4.651	25.6	4.73	2.060	9.248	14.947	0.960	.	0.0002	0.0175719	0.0116	0.0002	0.0004	0.0002	0	4.498e-05	0.0066	0.0840	0.009974	1542	154602	rs147962513	0.0049	0.0049	0.0028	0.0071	0.0781	0.0048	0.0048	0.0765	0.0759	0.0002	0.0002	0	0.0001	0	0.0038	7.569e-05	0.0052	0.0781	0.0028	0.0028	0.0013	0.0043	0.0855	0.0026	0.0025	0.0787	0.0760	0.0001	0	0.0001	0	0.0002	0	0	1.47e-05	0.0009	0.0855	0.013	0.53900	D	0.004	0.74150	D	0.998	0.73220	D	0.978	0.74104	D	0.002366	0.36688	N	0.000000	0.999566	0.47592	D	3.515	0.92918	H	-2.93	0.91800	D	-7.7	0.95634	D	0.278	0.50958	1.083	0.98977	D	0.922	0.97419	D	10	0.0077126324	0.00175	T	.	.	.	0.960	0.99376	.	.	.	.	0.34882152857766446	0.34796	0.504986622322	0.48759	0.549992620945	0.45856	T	0.752111	0.93215	D	0.0947146	0.63715	D	0.424963	0.92895	D	0.193740564689868	0.20062	T	0.747125	0.36767	T	0.75828004	0.81352	0.8513202	0.91592	0.818031	0.85089	0.8785231	0.93458	-10.082	0.74401	D	0.6061861159698078	0.67348	0.763	0.75613	P	.;.	.;.	5.223431	0.87673	29.3	0.99890925558465327	0.96513	0.99790	0.99484	D	AEFDBI	0.916529	0.88286	D	1.00549666222198	0.95911	14.09542	0.885450939200027	0.94905	13.14317	0.999997295064442	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.73	4.73	0.59485	9.318000	0.95450	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	14.947	0.70688	851	0.35303	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	2232.98	33	chr12	52571381	.	A	G	2232.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.80;DP=848;ExcessHet=0.0000;FS=0.608;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.99;ReadPosRankSum=0.591;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1111	20	0	1	0
chr12	52645240	52645240	C	T	exonic	KRT2	.	nonsynonymous SNV	KRT2:NM_000423:exon9:c.G1699A:p.G567S,	Ichthyosis bullosa of Siemens, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	870126	Ichthyosis_bullosa_of_Siemens	MONDO:MONDO:0007813,MedGen:C0432306,OMIM:146800,Orphanet:455	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.79	T	0.572	P	0.035	B	.	.	0.820	D	0	N	-5.81	D	0.805	D	0.806	D	0.29	2.203	13.32	3.4	0.940	0.975	8.225	0.368	0.0750189748672	7.7e-05	.	8.238e-05	0.0002	0	0	0	0.0001	0	0	6.47e-05	10	154602	rs199836359	1.779e-05	1.779e-05	2.178e-05	1.375e-05	0.0001	1.237e-05	1.051e-05	5.85e-05	3.758e-05	0.0001	0	0	0	3.744e-05	0	1.439e-05	1.656e-05	2.319e-05	9.855e-05	9.843e-05	7.714e-05	0.0001	0.0003	6.006e-05	4.879e-05	0.0002	0.0002	0.0003	0	0	0	0	0	0	1.47e-05	0	0	0.291	0.14945	T	0.364	0.16766	T	0.572	0.38625	P	0.035	0.22741	B	.	.	.	.	0.819852	0.34760	D	0.615	0.15706	N	-5.81	0.99381	D	-0.08	0.08187	N	0.266	0.30118	0.805	0.94469	D	0.806	0.93446	D	9	0.08488718	0.14273	T	0.075019	0.72186	D	0.368	0.68757	.	.	0.757340443705	0.75513	0.42909890640634857	0.42826	0.0847276726934	0.09572	0.477954089642	0.35774	T	0.018808	0.15099	T	-0.161137	0.26586	T	-0.189803	0.55608	T	0.0332640809784407	0.02515	T	0.30237	0.05722	T	0.023708614	0.01135	0.05282947	0.08782	0.023708614	0.01135	0.05282947	0.08781	-4.87	0.35396	T	.	.	0.078	0.07036	B	.	.	0.844988	0.12171	8.717	0.95379549763547755	0.26802	0.25789	0.22803	N	AEFDBI	0.284123	0.39707	N	-0.759895923569839	0.14365	0.7150247	-0.729628152197754	0.16224	0.857281	0.999971069084143	0.50053	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.29	3.4	0.38031	-0.085000	0.11215	.	.	-0.806000	0.03109	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	0.0:0.8855:0.0:0.1145	8.225	0.30722	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	6161.98	34	chr12	52645240	.	C	T	6161.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=1172;ExcessHet=0.0000;FS=1.101;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=-1.010e+00;SOR=0.745	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1173	20	0	1	0
chr12	52645354	52645354	C	T	exonic	KRT2	.	nonsynonymous SNV	KRT2:NM_000423:exon9:c.G1585A:p.G529R,	Ichthyosis bullosa of Siemens, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.78	P	0.106	B	.	.	0.721	N	0	N	-2.72	D	-0.364	T	0.403	T	0.445	2.804	15.34	3.55	1.001	0.858	11.567	0.312	0.0264833203081	.	0.000199681	5.766e-05	0	8.637e-05	0	0	5.994e-05	0	0.0001	5.82e-05	9	154602	rs530945813	4.31e-05	4.309e-05	3.811e-05	4.813e-05	0.0002	3.442e-05	3.129e-05	7.281e-05	5.16e-05	0	0.0002	0.0001	2.519e-05	0	0	3.687e-05	1.656e-05	0.0001	6.565e-05	6.562e-05	8.995e-05	4.027e-05	0.0004	3.514e-05	2.614e-05	7.296e-05	3.031e-05	7.219e-05	0	0.0002	0	0	0	0	2.94e-05	0	0.0004	0.09	0.31987	T	0.003	0.76473	D	0.78	0.44271	P	0.106	0.31143	B	.	.	.	.	0.720508	0.29927	N	2.08	0.57402	M	-2.72	0.90622	D	-2.45	0.53577	N	0.342	0.38335	-0.3637	0.73153	T	0.403	0.75338	T	9	0.18229482	0.33503	T	0.026483	0.49383	D	0.312	0.63375	0.352	0.35084	0.85537823315	0.85398	0.5089015278219101	0.50812	0.102195823215	0.11571	0.512008190155	0.40503	T	0.317727	0.68916	T	-0.131136	0.31314	T	-0.156844	0.58634	T	0.150815546512604	0.17168	T	0.358264	0.08182	T	0.09278258	0.21774	0.19647528	0.43379	0.09278258	0.21774	0.19647528	0.43378	-6.083	0.46969	T	0.2555017147872655	0.34546	0.347	0.56370	A	.	.	2.714010	0.35483	19.91	0.99516274280719441	0.68979	0.69808	0.34335	D	AEFBI	0.185647	0.31297	N	-0.247627119968168	0.31199	1.746979	-0.164592047064865	0.32850	1.873098	0.999995528827827	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.44	3.55	0.39770	1.284000	0.32855	.	.	0.519000	0.23678	0.930000	0.32276	0.489000	0.25143	0.584000	0.30992	0.0:0.9102:0.0:0.0898	11.567	0.50065	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4311.98	42	chr12	52645354	.	C	T	4311.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.31;DP=1279;ExcessHet=0.0000;FS=6.341;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.57;ReadPosRankSum=0.840;SOR=0.463	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1173	20	0	1	0
chr12	52645409	52645411	TGA	-	exonic	KRT2	.	nonframeshift deletion	KRT2:NM_000423:exon9:c.1528_1530del:p.S510del,	Ichthyosis bullosa of Siemens, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4705.94	42	chr12	52645408	.	TTGA	T	4705.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.420e-01;DP=976;ExcessHet=0.0000;FS=2.810;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.60;ReadPosRankSum=-8.500e-02;SOR=0.880	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1173	20	0	1	0
chr12	52692555	52692555	-	CAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGGACCCAGGAGGCGGAGTTTGTAGTGAACTGAT	exonic	KRT77	.	stopgain	KRT77:NM_175078:exon7:c.1292_1293insATCAGTTCACTACAAACTCCGCCTCCTGGGTCCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTG:p.E432Sfs*20,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0004	0.0002	0.0004	0.0010	0.0002	0.0002	0.0005	0.0003	2.988e-05	0.0001	0.0002	0	0.0003	0.0010	0.0003	0.0003	0.0001	9.253e-05	0.0001	9.046e-05	9.47e-05	0.0002	5.559e-05	4.389e-05	6.958e-05	5.126e-05	0	0	0.0001	0.0003	0	9.454e-05	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	635.94	33	chr12	52692555	.	C	CCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGGACCCAGGAGGCGGAGTTTGTAGTGAACTGAT	635.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.15;DP=877;ExcessHet=0.0000;FS=4.789;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.56;ReadPosRankSum=-2.439e+00;SOR=1.316	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1397	20	0	1	0
chr12	52695804	52695804	C	-	exonic	KRT77	.	frameshift deletion	KRT77:NM_175078:exon4:c.883delG:p.E295Rfs*5,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0001	0	8.678e-05	0	0	0.0002	0	0	0.00011	17	154602	rs767528845	9.374e-05	9.371e-05	8.987e-05	9.765e-05	0.0001	8.094e-05	7.586e-05	9.933e-05	9.336e-05	0	6.708e-05	0	0	0	0	0.0001	8.28e-05	0	8.543e-05	8.537e-05	6.423e-05	0.0001	0.0002	4.958e-05	3.963e-05	9.048e-05	7.012e-05	0	0	0.0001	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	881.94	35	chr12	52695803	.	TC	T	881.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.069;DP=758;ExcessHet=0.0000;FS=6.456;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.97;ReadPosRankSum=-1.039e+00;SOR=1.473	GT:AD:DP:GQ:PL	0/1:36,32:68:99:896,0,1005	20	0	1	0
chr12	52773632	52773632	C	A	exonic	KRT76	.	stopgain	KRT76:NM_015848:exon3:c.G826T:p.E276X,	.	.	434	1057	27	4	0	35	0.0162866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	5.576	35	4.48	2.423	7.559	18.045	.	.	0.0075	0.00219649	0.0066	0.0019	0.0021	0	0.0070	0.0100	0.0066	0.0026	0.0067399	1042	154602	rs149868801	0.0088	0.0088	0.0089	0.0086	0.0111	0.0086	0.0086	0.0095	0.0095	0.0011	0.0021	0.0287	0	0.0053	0.0111	0.0097	0.0089	0.0032	0.0062	0.0063	0.0062	0.0063	0.0089	0.0059	0.0058	0.0084	0.0081	0.0017	0.0011	0.0018	0.0317	0	0.0094	0.0272	0.0089	0.0085	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	0.000423	0.44522	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.262	0.29659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288857	0.82062	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	10.355728	0.99709	47	0.99648000475223408	0.77130	0.99171	0.92276	D	AEFDBI	0.238424	0.36054	N	1.04907529593213	0.97068	15.54151	0.855256360268074	0.93318	11.96511	0.999999329990999	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.48	4.48	0.53973	7.752000	0.84018	.	.	0.599000	0.40250	1.000000	0.71638	0.994000	0.32194	0.977000	0.56843	0.0:1.0:0.0:0.0	18.045	0.89255	578	0.69858	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	rs149868801	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3062.08	36	chr12	52773632	.	C	A	3062.08	.	AC=2;AF=0.048;AN=42;DP=891;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.23;SOR=0.896	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	1	0	0
chr12	52790295	52790295	C	A	exonic	KRT3	.	nonsynonymous SNV	KRT3:NM_057088:exon9:c.G1634T:p.G545V,	Meesmann corneal dystrophy, Autosomal dominant	.	0	1516	5	1	0	7	0.00230339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.83	P	0.146	B	0.004	N	1.000	N	1.89	L	-0.98	T	0.124	D	0.774	D	0.468	0.273	5.478	2.43	1.334	2.443	8.870	0.311	0.0542774985293	.	0.000399361	0.0013	0.0005	0	0	0	0.0007	0	0.0026	0.0002652	41	154602	rs547164798	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0014	0.0013	3.112e-05	0.0002	0	0	0	0.0014	0.0001	0.0003	0.0016	0.0001	0.0001	7.71e-05	0.0001	0.0010	6.507e-05	5.319e-05	0.0004	0.0003	0	0	0	0	0	0	0.0034	0.0001	0.0005	0.0010	0.243	0.17526	T	0.014	0.62352	D	0.83	0.46087	P	0.146	0.33945	B	0.004389	0.33795	N	0.000000	0.999928	0.19486	N	2.08	0.57402	M	-4.31	0.97195	D	-1.87	0.43717	N	0.444	0.48227	0.124	0.84606	D	0.774	0.92328	D	10	0.015193641	0.00319	T	0.054277	0.65794	D	0.311	0.63269	.	.	0.909624181124	0.90872	0.599637001039961	0.59894	0.165698584947	0.18694	0.60680437088	0.53865	T	0.154854	0.49632	T	-0.162609	0.26359	T	-0.0253679	0.68675	D	0.0340950197033788	0.02653	T	0.164184	0.01497	T	0.08927726	0.20853	0.10358719	0.24857	0.08927726	0.20853	0.10358719	0.24856	-8.626	0.65261	D	.	.	0.114	0.22680	B	.	.	1.406283	0.18209	13.61	0.5241809149134703	0.04744	0.25255	0.22644	N	ALL	0.063147	0.12182	N	-0.508284279542638	0.21811	1.160266	-0.671273772501535	0.17681	0.941207	0.999999998657307	0.74766	0.517182	0.21443	0	0.610034	0.51514	0	0.478664	0.07449	1	0.530356	0.10902	0	.	.	2.43	2.43	0.28797	3.471000	0.52871	.	.	0.511000	0.23309	0.610000	0.27830	0.016000	0.20520	0.011000	0.09372	0.0:1.0:0.0:0.0	8.870	0.34467	572	0.70300	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	883.98	42	chr12	52790295	.	C	A	883.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.695;DP=844;ExcessHet=0.0000;FS=4.159;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.28;ReadPosRankSum=-5.280e-01;SOR=0.854	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr12	52822053	52822053	A	G	exonic	KRT79	.	nonsynonymous SNV	KRT79:NM_175834:exon9:c.T1427C:p.V476A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.329	B	0.057	B	0.162	N	1.000	N	0.69	N	-2.18	D	-0.768	T	0.349	T	0.395	1.542	11.11	3.06	0.940	1.495	5.534	0.180	0.00843040620311	.	.	8.384e-06	0	0	0	0	0	0	6.096e-05	6.5e-06	1	154602	rs746481989	1.368e-06	1.368e-06	0	2.75e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.15047	T	0.577	0.08594	T	0.329	0.33227	B	0.057	0.26280	B	0.161575	0.17647	N	0.471995	0.999604	0.20887	N	2.075	0.57047	M	-2.18	0.86722	D	0.27	0.04306	N	0.271	0.30687	-0.7683	0.56951	T	0.349	0.71336	T	10	0.093174756	0.16467	T	0.00843	0.22307	T	0.180	0.45073	0.371	0.38176	0.53832913131	0.53483	0.29575159730917294	0.29488	0.12432472506	0.13995	0.597884535789	0.52606	T	0.00337	0.02778	T	-0.106977	0.35268	T	-0.209914	0.53704	T	0.093794971704483	0.11660	T	0.244276	0.03572	T	0.025943642	0.01591	0.033484194	0.02250	0.025943642	0.01591	0.033484194	0.02250	-4.855	0.35225	T	.	.	0.124	0.25946	B	.	.	1.298087	0.16994	12.89	0.96275056011513815	0.29263	0.08778	0.14656	N	AEFDBI	0.046560	0.07744	N	-0.584311827616364	0.19420	1.016285	-0.544594426307544	0.20948	1.131034	0.940977930453779	0.27456	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.21	3.06	0.34374	1.972000	0.40163	.	.	0.756000	0.94297	0.004000	0.16614	0.212000	0.23650	0.723000	0.34869	0.8642:0.0:0.1358:0.0	5.534	0.16289	572	0.70300	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	652.98	39	chr12	52822053	.	A	G	652.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.532;DP=794;ExcessHet=0.0000;FS=3.008;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.51;ReadPosRankSum=-4.190e-01;SOR=0.807	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1070	20	0	1	0
chr12	52949315	52949315	G	C	exonic	KRT18	.	nonsynonymous SNV	KRT18:NM_000224:exon1:c.G142C:p.V48L	Cirrhosis, cryptogenic, Autosomal recessive	.	400	768	347	0	7	354	0.18428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.65	P	0.223	B	0.138	N	1.000	N	2.865	M	-1.57	D	-0.406	T	0.471	T	0.427	2.081	12.91	0.954	0.219	-0.441	7.665	0.446	0.210614070419	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1359140246	6.957e-07	0.0003	0	1.399e-06	3.037e-05	0	0	.	.	3.037e-05	0	0	0	0	0	0	0	0	0.0011	0.0092	0.0010	0.0012	0.0024	0.0010	0.0009	0.0013	0.0012	0.0003	0.0024	0.0008	0.0021	0	0.0016	0	0.0015	0.0016	0.0024	0.187	0.21385	T	0.404	0.14818	T	0.519	0.40644	P	0.111	0.37929	B	0.138376	0.18380	N	0.416972	1	0.81001	D	2.265	0.64440	M	-1.57	0.82347	D	-1.0	0.26422	N	0.082	0.05799	-0.4056	0.71850	T	0.471	0.79663	T	10	0.083414674	0.13874	T	0.210614	0.87261	D	0.446	0.74797	0.415	0.45380	0.860313002099	0.85896	0.7160274570190178	0.71545	0.531599379089	0.50652	0.573910236359	0.49230	T	0.147259	0.48525	T	0.0174853	0.54042	T	-0.21266	0.53441	T	0.265387445688248	0.23549	T	0.0516948	0.00385	T	0.047216356	0.08035	0.043877922	0.05557	0.047216356	0.08035	0.043877922	0.05557	-4.986	0.36687	T	0.2609872102591527	0.35238	0.319	0.56786	B	.;.;.	.;.;.	0.909457	0.12836	9.352	0.95101178256288821	0.26176	0.54699	0.29680	D	AEFDBHCI	0.804658	0.72946	D	-0.508296202011104	0.21811	1.160241	-0.604811601927955	0.19369	1.038886	0.999992841170832	0.74766	0.733237	0.96898	0	0.609123	0.50646	0	0.600757	0.32118	0	0.638787	0.57140	0	.	.	3.79	0.954	0.18719	-0.106000	0.10860	.	.	-0.227000	0.07798	0.000000	0.06391	0.005000	0.19230	0.311000	0.24761	0.3008:0.0:0.6992:0.0	7.665	0.27595	769	0.49307	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	15089.32	89	chr12	52949315	.	G	A,C	15089.32	.	AC=20,1;AF=0.476,0.024;AN=42;BaseQRankSum=1.47;DP=1835;ExcessHet=54.0936;FS=3.984;InbreedingCoeff=-1.0000;MLEAC=20,1;MLEAF=0.476,0.024;MQ=56.35;MQRankSum=-9.015e+00;QD=8.31;ReadPosRankSum=-4.930e-01;SOR=1.108	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,23,0:85:99:0|1:52949249_G_A:779,0,2534,966,2603,3569:52949249	0	0	20	0
chr12	52951595	52951595	G	A	exonic	KRT18	.	nonsynonymous SNV	KRT18:NM_000224:exon4:c.G772A:p.E258K	Cirrhosis, cryptogenic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3272969	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.52	T	0.027	B	0.013	B	0.194	N	0.875	N	0.39	N	-2.49	D	-0.600	T	0.439	T	0.173	0.755	8.001	3.59	2.311	0.857	13.487	0.211	0.0406890940888	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1347876514	9.577e-06	9.577e-06	4.084e-06	1.513e-05	2.987e-05	5.56e-06	4.35e-06	4.55e-06	3.32e-06	2.987e-05	2.236e-05	0	0	0	0	8.993e-06	3.312e-05	0	6.577e-06	6.569e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	0.94	0.03030	T	0.007	0.19556	B	0.013	0.16460	B	0.193793	0.16776	N	0.513353	0.874503	0.28153	N	0.38	0.12130	N	-2.49	0.89145	D	0.69	0.02195	N	0.193	0.23506	-0.5999	0.64822	T	0.439	0.77765	T	10	0.09586775	0.17154	T	0.040689	0.59514	D	0.211	0.50185	.	.	0.564807590308	0.56144	0.33711777426591916	0.33624	0.609901705907	0.55697	0.367310762405	0.20445	T	0.321506	0.69260	T	-0.0969311	0.36933	T	-0.294146	0.45341	T	0.285273253917694	0.24392	T	0.725627	0.33984	T	0.15977314	0.35872	0.13554487	0.32450	0.15977314	0.35872	0.13554487	0.32449	-8.963	0.67458	D	0.10965201983919194	0.09178	0.206	0.43227	B	.;.;.	.;.;.	2.327061	0.29806	18.24	0.90549147926805984	0.19804	0.30971	0.24219	N	AEFBHCI	0.812927	0.73553	D	-0.592304290303385	0.19177	1.00163	-0.478043993983517	0.22760	1.237794	0.999999999490694	0.74766	0.722319	0.85440	0	0.588764	0.42986	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	3.59	3.59	0.40253	0.872000	0.27688	.	.	0.596000	0.33519	0.024000	0.20007	0.999000	0.35428	0.971000	0.54645	0.0:0.0:1.0:0.0	13.487	0.60826	764	0.49969	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	145.98	43	chr12	52951595	.	G	A	145.98	.	AC=4;AF=0.250;AN=16;BaseQRankSum=-1.195e+00;DP=797;ExcessHet=0.7148;FS=135.113;InbreedingCoeff=-0.3042;MLEAC=5;MLEAF=0.313;MQ=60.00;MQRankSum=0.00;QD=0.81;ReadPosRankSum=0.495;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:39,14:53:82:.:.:82,0,744	4	0	4	13
chr12	53027809	53027820	GGTATCGGGATG	-	exonic	EIF4B	.	nonframeshift deletion	EIF4B:NM_001330654:exon6:c.578_589del:p.Y202_G205del	.	.	437	1075	10	0	0	10	0.00462963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0013	0.0016	0.0015	0.0015	0.0002	0.0011	0.0011	0.0025	0.0003458	9	26028	rs577970499	0.0009	0.0009	0.0008	0.0010	0.0039	0.0009	0.0009	0.0027	0.0025	0.0016	0.0017	0.0004	0.0022	0.0003	0.0039	0.0007	0.0012	0.0030	0.0015	0.0015	0.0016	0.0014	0.0035	0.0014	0.0013	0.0022	0.0019	0.0019	0.0197	0.0017	0	0.0035	0.0002	0.0034	0.0010	0.0047	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	2509.3	122	chr12	53027808	.	CGGTATCGGGATG	C	2509.3	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.76;DP=2433;ExcessHet=0.0000;FS=0.673;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=58.72;MQRankSum=-4.819e+00;QD=19.01;ReadPosRankSum=0.694;SOR=0.828	GT:AD:DP:GQ:PL	0/0:125,0:125:99:0,120,1800	19	0	1	1
chr12	53059286	53059286	G	A	exonic	TNS2	.	nonsynonymous SNV	TNS2:NM_015319:exon18:c.G1675A:p.G559R	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.977	D	0.003	N	1.000	D	0.725	N	-3.57	D	0.860	D	0.824	D	0.56	3.894	19.80	4.63	2.300	4.446	15.357	0.569	0.899732061944	0.0003	0.000199681	0.0002	0.0020	0	0	0	9.926e-05	0	0	9.06e-05	14	154602	rs200956695	9.899e-05	9.782e-05	9.088e-05	0.0001	0.0019	8.502e-05	8.002e-05	0.0015	0.0014	0.0019	3.906e-05	0	0	0	0	6.46e-05	0.0001	0	0.0005	0.0005	0.0006	0.0004	0.0016	0.0004	0.0003	0.0013	0.0012	0.0016	0	6.643e-05	0	0	9.573e-05	0	0	0.0010	0	0.001	0.78490	D	0.014	0.72224	D	1.0	0.90584	D	0.967	0.73820	D	0.002606	0.36243	N	0.220591	0.998457	0.50061	D	.	.	.	-3.61	0.95043	D	-3.2	0.64710	D	0.444	0.59732	0.860	0.95155	D	0.824	0.94093	D	10	0.13169333	0.25064	T	0.899732	0.99244	D	0.569	0.82460	0.36	0.36385	0.600208187352	0.59702	0.5746472143276707	0.57393	0.875910447209	0.69566	0.829423666	0.86473	D	0.649244	0.89336	D	-0.113699	0.34157	T	0.0392756	0.72881	D	0.0848987113505689	0.10602	T	0.934407	0.75457	D	0.24548915	0.47508	0.44222352	0.67480	0.24548915	0.47508	0.44222352	0.67480	-7.356	0.61316	T	.	.	0.346	0.57536	A	.;.;.;.;.;.	.;.;.;.;.;.	4.091599	0.60938	24.3	0.99910388641662129	0.98022	0.81448	0.40849	D	AEFDBCI	0.625844	0.60889	D	0.485307998021628	0.66231	4.923571	0.486133867089354	0.67072	5.035109	0.999999977244755	0.74766	0.460665	0.09802	0	0.514364	0.08380	0	0.576033	0.28219	0	0.636168	0.56350	0	.	.	4.63	4.63	0.57175	3.456000	0.52764	9.732000	0.81403	0.674000	0.70861	0.997000	0.40164	1.000000	0.68203	0.346000	0.25568	0.0:0.0:1.0:0.0	15.357	0.74148	761	0.50382	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	731.98	44	chr12	53059286	.	G	A	731.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.410e-01;DP=793;ExcessHet=0.0000;FS=2.120;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.20;ReadPosRankSum=2.04;SOR=0.577	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,953	20	0	1	0
chr12	53059304	53059304	C	T	exonic	TNS2	.	nonsynonymous SNV	TNS2:NM_015319:exon18:c.C1693T:p.R565W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.656	N	1.000	D	1.04	L	-3.53	D	0.550	D	0.838	D	0.74	2.953	15.84	3.71	1.043	0.667	10.173	0.600	0.746690576993	.	.	0.0003	0	0.0012	0	0	0	0	0.0022	0.0001229	19	154602	rs765692676	5.101e-05	6.567e-05	2.672e-05	7.657e-05	0.0009	4.074e-05	3.745e-05	0.0007	0.0006	0	0.0003	0	0	0	0	9.595e-07	5.579e-05	0.0009	2.012e-05	2.629e-05	0	4.129e-05	0.0007	5.35e-06	2.48e-06	0.0002	9.51e-05	0	0	0	0	0	0	0	0	0	0.0007	0.0	0.91255	D	0.007	0.69154	D	1.0	0.90584	D	0.976	0.82059	D	0.655828	0.10471	N	0.826565	0.990673	0.47320	D	.	.	.	-3.57	0.94904	D	-3.64	0.69835	D	0.516	0.61933	0.550	0.91239	D	0.838	0.94596	D	10	0.12027064	0.22777	T	0.746691	0.97977	D	0.600	0.84183	0.423	0.46693	0.507987536778	0.50438	0.4837670075374105	0.48296	0.851762941149	0.68571	0.789791226387	0.80410	T	0.530826	0.83761	D	-0.0234292	0.48364	T	0.158191	0.80695	D	0.247059943586125	0.22741	T	0.956054	0.84151	D	0.2579935	0.48847	0.30871886	0.56889	0.2579935	0.48847	0.30871886	0.56888	-5.243	0.40200	T	.	.	0.173	0.37858	B	.;.;.;.;.;.	.;.;.;.;.;.	3.928888	0.57408	23.9	0.99901090243988599	0.97275	0.75968	0.37225	D	AEFDBCI	0.503896	0.53569	D	0.271417824523276	0.54706	3.635487	0.227030740637135	0.51353	3.318533	0.999806113484734	0.43304	0.460665	0.09802	0	0.514364	0.08380	0	0.576033	0.28219	0	0.636168	0.56350	0	.	.	4.63	3.71	0.41733	0.356000	0.19918	3.876000	0.40213	0.599000	0.40250	0.842000	0.30316	1.000000	0.68203	0.331000	0.25224	0.1997:0.8003:0.0:0.0	10.173	0.42096	761	0.50382	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	725.98	44	chr12	53059304	.	C	T	725.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=789;ExcessHet=0.0000;FS=3.910;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.44;ReadPosRankSum=0.087;SOR=1.422	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,953	20	0	1	0
chr12	53060185	53060185	C	G	exonic	TNS2	.	nonsynonymous SNV	TNS2:NM_015319:exon18:c.C2574G:p.I858M	.	.	.	.	.	.	.	.	.	.	.	2851285	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.343	B	0.206	B	0.567	N	1.000	N	0.55	N	-3.44	D	-0.142	T	0.647	D	0.16	1.128	9.598	0.47	0.293	-0.065	3.187	0.229	0.101116127344	.	0.00139776	0.0009	0	0	0	0	0	0	0.0078	0.000705	109	154602	rs529213852	0.0003	0.0003	0.0002	0.0004	0.0048	0.0003	0.0003	0.0044	0.0043	0	2.278e-05	0	2.531e-05	0	0	2.717e-06	0.0004	0.0048	0.0002	0.0002	0.0002	0.0002	0.0054	0.0001	0.0001	0.0038	0.0032	0	0	0	0	0	0	0	0	0.0005	0.0054	0.002	0.72154	D	0.287	0.26066	T	0.189	0.33512	B	0.206	0.37138	B	0.566585	0.05455	N	1.208050	1	0.81001	D	.	.	.	-3.44	0.94584	D	0.08	0.06868	N	0.295	0.35832	-0.1421	0.79113	T	0.647	0.87699	D	10	0.0026643276	0.00041	T	0.101116	0.77381	D	0.229	0.52916	0.216	0.13643	0.168933306366	0.16529	0.34258885477681245	0.34171	0.625801839417	0.56741	0.622317194939	0.56056	T	0.106938	0.41871	T	-0.292662	0.09371	T	-0.190414	0.55551	T	0.0490850858734888	0.05338	T	0.867613	0.56877	D	0.13931097	0.32186	0.081424415	0.18503	0.13931097	0.32186	0.081424415	0.18503	-3.755	0.20521	T	.	.	0.201	0.44809	B	.;.;.;.;.	.;.;.;.;.	1.771646	0.22528	15.66	0.94445526800701107	0.24873	0.21850	0.21546	N	AEFGBCI	0.182403	0.30973	N	-0.459620517811465	0.23415	1.257259	-0.375851592857987	0.25719	1.416105	0.928691601717746	0.26939	0.67177	0.52595	0	0.514364	0.08380	0	0.696353	0.63694	0	0.711	0.71501	0	.	.	4.76	0.47	0.15957	-0.227000	0.09131	0.483000	0.18825	0.580000	0.29708	0.000000	0.06391	0.997000	0.33255	0.993000	0.69303	0.3641:0.4285:0.0:0.2073	3.187	0.06209	761	0.50382	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	881.98	37	chr12	53060185	.	C	G	881.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.50;DP=793;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.00;ReadPosRankSum=-5.100e-02;SOR=0.699	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1279	20	0	1	0
chr12	53061154	53061154	G	A	exonic	TNS2	.	nonsynonymous SNV	TNS2:NM_015319:exon20:c.G3278A:p.G1093E	.	.	416	1100	6	0	0	6	0.00271985	.	.	796799	TNS2-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.55	T	0.998	D	0.899	P	0.047	N	0.790	N	1.67	L	-3.36	D	0.272	D	0.833	D	0.612	1.531	11.07	4.46	2.491	3.573	12.816	0.470	0.0795756466526	0.0005	0.000399361	0.0007	0.0001	8.673e-05	0	0	0.0011	0.0012	0.0006	0.0006533	101	154602	rs139881378	0.0005	0.0005	0.0005	0.0005	0.0014	0.0005	0.0004	0.0007	0.0005	8.987e-05	0.0003	0.0085	0	1.893e-05	0.0014	0.0003	0.0013	0.0005	0.0005	0.0005	0.0005	0.0005	0.0014	0.0004	0.0004	0.0007	0.0005	2.405e-05	0	0.0005	0.0092	0	0	0	0.0004	0.0005	0.0014	0.023	0.50132	D	0.076	0.49120	T	0.188	0.73220	B	0.135	0.63802	B	0.046646	0.23419	N	0.442226	0.790419	0.29232	N	.	.	.	-3.44	0.94469	D	-2.67	0.58407	D	0.663	0.67218	0.272	0.87102	D	0.833	0.94419	D	10	0.009141624	0.00207	T	0.079576	0.73267	D	0.470	0.76421	.	.	0.403609169532	0.39974	0.3024018777301248	0.30153	0.924845224075	0.71602	0.609047055244	0.54180	T	0.63581	0.88770	D	-0.0701058	0.41310	T	0.0279639	0.72146	D	0.0306202726066503	0.02086	T	0.910909	0.70392	D	0.2625106	0.49313	0.28004578	0.53977	0.2625106	0.49313	0.28004578	0.53976	-3.955	0.23248	T	.	.	0.131	0.41557	B	.;.;.;.;.;.	.;.;.;.;.;.	3.834872	0.55457	23.6	0.99597041628842786	0.73983	0.55988	0.30003	D	AEFDGBCI	0.428039	0.49173	N	0.0848129862562433	0.45754	2.826759	0.098532864531189	0.44475	2.728573	0.999999979874007	0.74766	0.722319	0.85440	0	0.514364	0.08380	0	0.696353	0.63694	0	0.735409	0.98432	0	.	.	4.46	4.46	0.53567	3.850000	0.55627	11.442000	0.92771	0.676000	0.76740	0.983000	0.35670	1.000000	0.68203	0.876000	0.41813	0.0:0.0:1.0:0.0	12.816	0.57045	759	0.50631	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1737.98	36	chr12	53061154	.	G	A	1737.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.30;DP=848;ExcessHet=0.0000;FS=1.444;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.58;ReadPosRankSum=-1.624e+00;SOR=0.544	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1349	20	0	1	0
chr12	53061258	53061258	A	G	exonic	TNS2	.	nonsynonymous SNV	TNS2:NM_015319:exon20:c.A3382G:p.T1128A	.	.	425	1090	7	0	0	7	0.00320073	.	.	1650245	not_provided|TNS2-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.54	T	0.001	B	0.001	B	0.990	N	1.000	N	-0.345	N	-0.03	T	-1.041	T	0.058	T	0.063	0.275	5.487	0.411	0.210	-0.827	3.025	0.041	0.00687841325701	0.0068	0.00259585	0.0066	0.0021	0.0030	0.0001	0.0097	0.0092	0.0088	0.0017	0.0064618	999	154602	rs117152710	0.0099	0.0098	0.0101	0.0097	0.0116	0.0097	0.0097	0.0115	0.0114	0.0014	0.0028	0.0027	5.084e-05	0.0074	0.0011	0.0116	0.0100	0.0016	0.0067	0.0067	0.0070	0.0065	0.0104	0.0064	0.0063	0.0097	0.0095	0.0021	0.0461	0.0044	0.0023	0.0002	0.0086	0	0.0104	0.0066	0.0019	0.153	0.24564	T	0.623	0.14633	T	0.0	0.07471	B	0.0	0.04355	B	0.990093	0.08036	N	0.995534	1	0.08975	N	.	.	.	-0.03	0.63077	T	0.07	0.06138	N	0.054	0.03841	-1.0410	0.17011	T	0.058	0.24167	T	10	0.0026211143	0.00040	T	0.006878	0.18205	T	0.041	0.10877	.	.	0.0138822411134	0.00435	0.250443145003512	0.24958	0.217637932078	0.24287	0.262815266848	0.05230	T	0.112665	0.42910	T	-0.610847	0.00125	T	-0.638539	0.09777	T	0.00745719731631518	0.00086	T	0.128487	0.01008	T	0.08522565	0.19759	0.036684442	0.03164	0.08522565	0.19759	0.036684442	0.03163	-4.163	0.29353	T	.	.	0.066	0.02228	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.115102	0.03552	0.683	0.57000616297912687	0.05674	0.01611	0.05216	N	AEFDBCI	0.056962	0.10572	N	-1.52166306306796	0.01707	0.07473583	-1.47580384273179	0.02544	0.1171883	0.999941587760941	0.47345	0.722319	0.85440	0	0.514364	0.08380	0	0.696353	0.63694	0	0.735409	0.98432	0	.	.	4.46	0.411	0.15609	-0.374000	0.07541	-0.980000	0.06715	-0.884000	0.02433	0.000000	0.06391	0.000000	0.08366	0.095000	0.18041	0.1756:0.3895:0.3379:0.097	3.025	0.05719	759	0.50631	.;.;.;.;.;.	.	.	.	.	rs117152710	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1642.98	36	chr12	53061258	.	A	G	1642.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.77;DP=841;ExcessHet=0.0000;FS=2.294;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=-4.360e-01;SOR=0.641	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1349	20	0	1	0
chr12	53158552	53158552	A	T	exonic	CSAD	.	nonsynonymous SNV	CSAD:NM_001244706:exon8:c.T742A:p.F248I	.	.	427	1094	1	0	0	1	0.00045683	.	.	2673111	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	0.999	D	0.988	D	0.000	D	1.000	D	2.67	M	1.2	T	-0.200	T	0.397	T	0.703	3.994	20.5	4.49	2.027	8.593	13.215	0.365	0.161049203376	0.0002	0.000199681	0.0003	0	8.652e-05	0	0	0.0002	0.0033	0.0008	0.0002717	42	154602	rs201988379	0.0003	0.0003	0.0003	0.0004	0.0012	0.0003	0.0003	0.0007	0.0007	3.006e-05	8.951e-05	3.828e-05	0	0	0.0012	0.0003	0.0006	0.0009	0.0002	0.0002	0.0003	0.0002	0.0008	0.0002	0.0001	0.0003	0.0002	7.292e-05	0	6.554e-05	0	0	0	0	0.0004	0.0005	0.0008	0.001	0.78490	D	0.013	0.63109	D	0.999	0.77913	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.345	0.91022	M	1.2	0.37405	T	-5.4	0.85103	D	0.698	0.78737	-0.1999	0.77674	T	0.397	0.74909	T	10	0.27375472	0.44925	T	0.161049	0.84092	D	0.365	0.68495	.	.	0.473853734676	0.47014	0.7748335612118213	0.77433	0.733123328434	0.62824	0.608102798462	0.54047	T	0.678335	0.90527	D	-0.146627	0.28840	T	-0.052218	0.66871	D	0.519829070477394	0.33359	D	0.907809	0.73907	D	0.82307833	0.85428	0.6452673	0.79261	0.82307833	0.85429	0.6452673	0.79262	-12.205	0.86458	D	.	.	0.295	0.60437	B	.;.;.;.	.;.;.;.	4.859584	0.79503	27.1	0.98221933429762986	0.39307	0.98287	0.81280	D	AEFDBHCI	0.916247	0.88217	D	0.421247462437126	0.62590	4.477611	0.42199202551575	0.62939	4.517962	0.999999999856316	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.693117	0.63056	0	0.635551	0.53088	0	.	.	4.49	4.49	0.54177	8.919000	0.92353	9.350000	0.80289	0.727000	0.85467	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	1.0:0.0:0.0:0.0	13.215	0.59282	774	0.48577	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1148.98	33	chr12	53158552	.	A	T	1148.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.190e-01;DP=817;ExcessHet=0.0000;FS=0.705;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.35;ReadPosRankSum=0.227;SOR=0.665	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr12	53171972	53171972	C	T	exonic	CSAD	.	nonsynonymous SNV	CSAD:NM_001244705:exon7:c.G361A:p.A121T	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.961	D	0.000	D	1.000	D	3.425	M	1.11	T	0.424	D	0.595	D	0.875	5.286	33	4.96	2.484	5.647	17.353	0.469	0.04230201479	.	0.000199681	8.272e-06	0	0	0	0	1.505e-05	0	0	1.29e-05	2	154602	rs138203066	1.3e-05	1.368e-05	8.17e-06	1.788e-05	5.976e-05	8.32e-06	6.7e-06	9.9e-06	6.42e-06	5.976e-05	0	0	2.519e-05	0	0	1.349e-05	1.656e-05	0	6.576e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.961	0.70482	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.495	0.92709	M	1.11	0.38883	T	-2.51	0.54546	D	0.703	0.73916	0.424	0.89452	D	0.595	0.85534	D	10	0.5738438	0.65468	D	0.042302	0.60393	D	0.469	0.76355	.	.	0.555277862696	0.55187	0.9115866123841866	0.91132	0.54758036057	0.51724	0.661323726177	0.61598	T	0.559584	0.93268	D	0.199764	0.73869	D	0.112817	0.77760	D	0.992093980312347	0.82494	D	0.972103	0.89869	D	0.7688288	0.81978	0.6788753	0.81136	0.7688288	0.81979	0.6788753	0.81137	-9.309	0.70179	D	.	.	0.753	0.79004	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.916642	0.80938	27.4	0.9993610445293295	0.99621	0.94928	0.62818	D	AEFBHCI	0.702493	0.65885	D	0.530974383142651	0.68932	5.285678	0.51950329261461	0.69303	5.341217	1.0	0.98316	0.706298	0.61202	0	0.709663	0.81188	0	0.383324	0.06259	0	0.635551	0.53088	0	.	.	4.96	4.96	0.65153	3.847000	0.55604	5.950000	0.51632	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.862000	0.40904	0.0:1.0:0.0:0.0	17.353	0.87218	689	0.59000	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1077.98	33	chr12	53171972	.	C	T	1077.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.036;DP=782;ExcessHet=0.0000;FS=0.772;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=-1.346e+00;SOR=0.591	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1402	20	0	1	0
chr12	53185420	53185420	C	T	exonic	ZNF740	.	nonsynonymous SNV	ZNF740:NM_001004304:exon4:c.C193T:p.R65C,	.	.	430	1057	34	1	0	36	0.0167442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.931	P	0.061	B	0.003	N	1.000	D	0.55	N	3.07	T	-0.842	T	0.008	T	0.68	3.905	19.86	3.96	1.416	4.098	10.685	0.087	0.0244779474361	0.0054	0.00159744	0.0052	0.0004	0.0034	0	0.0047	0.0070	0.0045	0.0050	0.0052134	806	154602	rs187594342	0.0068	0.0068	0.0068	0.0068	0.0092	0.0067	0.0067	0.0073	0.0073	0.0012	0.0027	0.0179	2.519e-05	0.0042	0.0092	0.0074	0.0073	0.0040	0.0044	0.0044	0.0044	0.0044	0.0065	0.0041	0.0040	0.0060	0.0058	0.0008	0.0011	0.0020	0.0225	0	0.0047	0.0034	0.0065	0.0071	0.0042	0.0	0.91255	D	0.002	0.79402	D	0.931	0.51899	P	0.061	0.26820	B	0.002536	0.36389	N	0.194783	0.999999	0.58761	D	1.87	0.49600	L	3.07	0.08547	T	-1.24	0.31375	N	0.584	0.60495	-0.8420	0.52513	T	0.008	0.02679	T	10	0.0073727965	0.00168	T	0.024478	0.47468	T	0.087	0.25287	.	.	0.171220215726	0.16700	0.3601703895602559	0.35931	1.08449223616	0.77234	0.688966810703	0.65558	T	0.046019	0.27299	T	-0.332407	0.05931	T	-0.243717	0.50435	T	0.0609010521928479	0.07310	T	0.838916	0.51225	T	0.23191017	0.45970	0.1342924	0.32183	0.23191017	0.45970	0.1342924	0.32182	-4.923	0.35993	T	.	.	0.218	0.44847	B	.	.	5.114336	0.85514	28.6	0.99923972068901667	0.98917	0.91169	0.52995	D	AEFBI	0.534972	0.55379	D	0.0597712260261759	0.44592	2.73052	0.157251626061201	0.47527	2.981637	0.999994350597713	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.85	3.96	0.45097	4.313000	0.58952	5.944000	0.51530	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9094:0.0:0.0906	10.685	0.45033	721	0.55360	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1503.11	33	chr12	53185420	.	C	T	1503.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.42;DP=744;ExcessHet=0.1072;FS=1.658;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.82;ReadPosRankSum=1.43;SOR=0.884	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1036	19	0	2	0
chr12	53192439	53192439	G	C	exonic	ITGB7	.	nonsynonymous SNV	ITGB7:NM_000889:exon14:c.C2046G:p.I682M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.0	B	0.001	B	0.837	N	1.000	N	1.01	L	-1.62	D	-0.012	T	0.691	D	0.184	0.361	5.962	-2.21	-0.296	-0.630	5.954	0.150	0.0404551338484	.	.	9.908e-05	0	0	0	0	0	0.0055	0.0004	8.41e-05	13	154602	rs754910525	4.241e-05	4.241e-05	3.539e-05	4.95e-05	0.0003	3.376e-05	3.065e-05	0.0002	0.0002	0	0	0	0	1.872e-05	0	2.968e-05	6.623e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.20154	T	0.141	0.42261	T	0.0	0.02946	B	0.001	0.04355	B	0.837084	0.06977	N	1.094130	1	0.08975	N	1.1	0.28011	L	-1.62	0.89953	D	-0.19	0.09965	N	0.083	0.12198	-0.0123	0.82000	T	0.691	0.89334	D	10	0.06807226	0.09574	T	0.040455	0.59387	D	0.167	0.42761	0.435	0.48664	0.810698357934	0.80892	0.4524297103678786	0.45160	0.304004159144	0.32719	0.34367609024	0.16987	T	0.153696	0.49465	T	-0.311929	0.07579	T	-0.357881	0.38298	T	0.0103855888556171	0.00142	T	0.516048	0.17878	T	0.053570297	0.10158	0.049007658	0.07400	0.053570297	0.10157	0.049007658	0.07400	-3.777	0.20461	T	.	.	0.075	0.15788	B	.;.;.	.;.;.	0.389034	0.07609	4.268	0.82843558025221908	0.14404	0.07914	0.13901	N	AEFDGBCI	0.067560	0.13287	N	-0.7263544416823	0.15282	0.768883	-0.841318428889804	0.13495	0.7004286	0.999901857049008	0.45458	0.67177	0.52595	0	0.702456	0.74545	0	0.514364	0.09456	0	0.645665	0.59343	0	.	.	4.83	-2.21	0.06581	-0.269000	0.08626	0.893000	0.22488	-0.127000	0.13314	0.000000	0.06391	0.005000	0.19230	0.789000	0.37270	0.3076:0.3557:0.3367:0.0	5.954	0.18499	735	0.53711	Integrin beta subunit, tail;Integrin beta subunit, tail;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3931.08	36	chr12	53192439	.	G	C	3931.08	.	AC=2;AF=0.048;AN=42;DP=823;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.76;SOR=0.950	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1411	20	1	0	0
chr12	53192752	53192752	C	T	exonic	ITGB7	.	nonsynonymous SNV	ITGB7:NM_000889:exon13:c.G1885A:p.G629S,	.	.	417	1082	22	1	0	24	0.0109689	.	.	702391	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.98	D	0.001	D	1.000	D	2.205	M	-3.52	D	0.317	D	0.679	D	0.61	3.160	16.57	5.13	2.579	1.984	17.828	0.668	.	0.0022	0.00878594	0.0082	0.0013	0.0266	0	0.0189	0.0026	0.0055	0.0224	0.0074385	1150	154602	rs61754162	0.0048	0.0048	0.0042	0.0054	0.0246	0.0047	0.0047	0.0237	0.0234	0.0007	0.0228	0.0003	0	0.0175	0.0049	0.0024	0.0045	0.0246	0.0057	0.0057	0.0044	0.0071	0.0221	0.0054	0.0053	0.0187	0.0175	0.0015	0	0.0172	0	0.0006	0.0193	0	0.0031	0.0080	0.0221	0.126	0.27194	T	0.168	0.30631	T	1.0	0.90584	D	0.98	0.74843	D	0.000557	0.43413	D	0.000000	0.999972	0.81001	D	3.02	0.86243	M	-3.52	0.94729	D	-3.1	0.63554	D	0.371	0.41656	0.317	0.87824	D	0.679	0.88907	D	10	0.011388004	0.00249	T	.	.	.	0.668	0.87674	.	.	0.93656258965	0.93590	0.5989086097140932	0.59821	0.979702362568	0.73696	0.506250977516	0.39698	T	0.732236	0.92515	D	-0.12979	0.31530	T	0.0597138	0.74226	D	0.027408211834605	0.01603	T	0.508249	0.16142	T	0.18392958	0.39684	0.19071843	0.42491	0.18392958	0.39684	0.19071843	0.42490	-6.615	0.51168	T	.	.	0.134	0.29172	B	.;.	.;.	3.923047	0.57282	23.8	0.998013563709925	0.88639	0.88276	0.48131	D	AEFDGBHCI	0.311644	0.41731	N	0.420792611744161	0.62566	4.474637	0.329919055694175	0.57304	3.895758	0.999999999511653	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.514364	0.09456	0	0.645665	0.59343	0	.	.	5.13	5.13	0.69729	2.442000	0.44531	5.933000	0.51351	0.595000	0.32841	0.992000	0.37556	1.000000	0.68203	0.044000	0.14658	0.0:1.0:0.0:0.0	17.828	0.88584	735	0.53711	EGF-like domain, extracellular;EGF-like domain, extracellular	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	815.98	34	chr12	53192752	.	C	T	815.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.657;DP=756;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.07;ReadPosRankSum=-1.614e+00;SOR=0.779	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1411	20	0	1	0
chr12	53196758	53196758	G	T	exonic	ITGB7	.	nonsynonymous SNV	ITGB7:NM_000889:exon6:c.C637A:p.R213S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.221	B	0.107	B	0.267	N	1.000	N	1.485	L	-3.02	D	-0.271	T	0.559	D	0.372	2.390	13.95	4.15	1.245	0.223	10.113	0.338	0.0825578291581	0.0004	0.000599042	0.0006	0	0.0012	0	0	0.0008	0.0011	0	0.0006015	93	154602	rs11574537	0.0006	0.0006	0.0006	0.0006	0.0054	0.0005	0.0005	0.0039	0.0034	0.0004	0.0016	0.0091	0	0	0.0054	0.0003	0.0017	3.48e-05	0.0008	0.0008	0.0008	0.0008	0.0022	0.0007	0.0007	0.0016	0.0014	0.0002	0	0.0022	0.0104	0	0	0.0170	0.0006	0.0028	0	0.011	0.55530	D	0.197	0.27855	T	0.221	0.30336	B	0.107	0.31211	B	0.267061	0.15201	N	0.491750	1	0.08975	N	1.465	0.36909	L	-3.02	0.92258	D	-2.02	0.46503	N	0.44	0.49965	-0.2706	0.75795	T	0.559	0.83919	D	10	0.0107575655	0.00238	T	0.082558	0.73927	D	0.338	0.66010	.	.	0.883221294441	0.88207	0.5358905244624111	0.53514	0.565344544128	0.52876	0.361900389194	0.19662	T	0.605	0.87387	D	-0.225307	0.17273	T	-0.131792	0.60821	T	0.0129271835238952	0.00223	T	0.819518	0.63671	T	0.43884242	0.63328	0.22037275	0.46810	0.43884242	0.63328	0.22037275	0.46809	-6.585	0.50938	T	.	.	0.151	0.38658	B	.;.;.	.;.;.	3.489234	0.48758	22.7	0.99037735821458062	0.50939	0.17479	0.19855	N	AEFBCI	0.202013	0.32864	N	-0.321542058664074	0.28331	1.561775	-0.250838444849185	0.29742	1.66884	0.998527127172996	0.37129	0.67177	0.52595	0	0.702456	0.74545	0	0.491614	0.08109	1	0.567892	0.33627	0	.	.	5.05	4.15	0.47978	0.455000	0.21555	6.637000	0.56171	0.672000	0.70159	0.000000	0.06391	1.000000	0.68203	0.986000	0.61781	0.0:0.1485:0.6978:0.1538	10.113	0.41745	744	0.52588	Integrin beta subunit, VWA domain|Integrin beta subunit, VWA domain;Integrin beta subunit, VWA domain|Integrin beta subunit, VWA domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1816.98	145	chr12	53196758	.	G	T	1816.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.43;DP=880;ExcessHet=0.0000;FS=0.613;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.53;ReadPosRankSum=-1.824e+00;SOR=0.781	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1427	20	0	1	0
chr12	53715311	53715311	C	A	exonic	CALCOCO1	.	nonsynonymous SNV	CALCOCO1:NM_001143682:exon9:c.G1020T:p.K340N	.	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.997	D	0.933	D	0.000	D	0.992	D	1.385	L	2.72	T	-1.137	T	0.061	T	0.291	4.164	21.5	3.75	1.507	1.402	11.178	0.161	.	0.0003	0.00239617	0.0012	9.61e-05	8.637e-05	0	0.0002	0.0003	0	0.0074	0.0010543	163	154602	rs138639329	0.0006	0.0006	0.0004	0.0008	0.0068	0.0006	0.0005	0.0064	0.0062	2.987e-05	8.945e-05	0	0	5.617e-05	0.0005	0.0002	0.0008	0.0068	0.0004	0.0004	0.0002	0.0006	0.0081	0.0003	0.0003	0.0061	0.0054	0.0001	0	0	0	0	9.427e-05	0	0.0002	0.0005	0.0081	0.003	0.68238	D	0.02	0.60972	D	0.996	0.70673	D	0.844	0.64103	P	0.000265	0.46590	D	0.000000	0.991978	0.41522	D	1.845	0.48678	L	2.72	0.11947	T	-1.2	0.36586	N	0.628	0.68429	-1.1367	0.01486	T	0.061	0.25528	T	10	0.010277927	0.00229	T	.	.	.	0.161	0.41658	0.581	0.70733	0.37097340754	0.36704	0.11217164448708446	0.11146	0.788710189345	0.65656	0.581704974174	0.50325	T	0.071352	0.34187	T	-0.505322	0.00533	T	-0.49533	0.22834	T	0.099006343742257	0.12247	T	0.824018	0.49290	T	0.17581764	0.38461	0.17718714	0.40303	0.17581764	0.38461	0.17718714	0.40303	-3.548	0.19910	T	.	.	0.637	0.72450	P	.;.;.;.	.;.;.;.	3.979291	0.58488	24.0	0.99861222774499336	0.94002	0.89470	0.49955	D	AEFGBI	0.226731	0.35063	N	0.42573491334846	0.62840	4.507	0.417007424112581	0.62624	4.480974	0.0986843380557129	0.16311	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.58	3.75	0.42236	1.602000	0.36393	0.536000	0.19291	0.599000	0.40250	1.000000	0.71638	0.997000	0.33255	0.999000	0.91618	0.0:0.8472:0.0:0.1528	11.178	0.47839	162	0.93704	.;.;.;Calcium binding and coiled-coil domain-like	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1664.98	34	chr12	53715311	.	C	A	1664.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.255e+00;DP=837;ExcessHet=0.0000;FS=2.242;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=0.257;SOR=0.481	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1205	20	0	1	0
chr12	53716343	53716343	C	G	exonic	CALCOCO1	.	nonsynonymous SNV	CALCOCO1:NM_020898:exon8:c.G922C:p.E308Q,	.	.	425	1091	5	1	0	7	0.00319781	.	.	3302488	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.56	T	0.04	B	0.091	B	0.007	N	1.000	N	0.895	L	2.86	T	-0.959	T	0.019	T	0.256	0.532	6.880	2.97	0.757	0.913	7.475	0.030	0.00856927819412	0.0005	0.000798722	0.0007	0	0.0013	0	0	0.0009	0.0033	0.0005	0.0006727	104	154602	rs140181365	0.0005	0.0005	0.0005	0.0005	0.0111	0.0005	0.0005	0.0089	0.0081	0.0004	0.0011	0.0049	0	1.872e-05	0.0111	0.0003	0.0015	0.0006	0.0005	0.0005	0.0004	0.0006	0.0010	0.0004	0.0004	0.0006	0.0004	0.0001	0	0.0009	0.0037	0	0	0.0068	0.0005	0.0009	0.0010	0.157	0.23997	T	0.526	0.10245	T	0.032	0.21238	B	0.034	0.26280	B	0.006809	0.31785	N	0.146929	1	0.81001	D	1.355	0.33814	L	2.84	0.10674	T	-0.35	0.12847	N	0.24	0.29889	-0.9594	0.39293	T	0.019	0.07986	T	10	0.0077368915	0.00176	T	0.008569	0.22655	T	0.030	0.07022	.	.	0.151104730317	0.14643	0.3164693061681868	0.31559	0.244982612967	0.27023	0.31140935421	0.12120	T	0.012356	0.10875	T	-0.507691	0.00517	T	-0.558387	0.16528	T	0.00988002194610576	0.00131	T	0.633837	0.24812	T	0.05197449	0.09625	0.044320863	0.05715	0.05197449	0.09625	0.044320863	0.05714	-3.663	0.20327	T	.	.	0.080	0.07745	B	.;.;.	.;.;.	2.063355	0.26240	17.05	0.89018100308257853	0.18443	0.82376	0.41613	D	AEFBI	0.152266	0.27691	N	-0.639536948189507	0.17766	0.9169609	-0.513776436114731	0.21779	1.179785	3.73192485777946E-4	0.06745	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.78	2.97	0.33479	0.933000	0.28497	3.998000	0.41048	-0.171000	0.11205	0.989000	0.36753	0.999000	0.35428	0.478000	0.28520	0.0:0.8073:0.0:0.1927	7.475	0.26541	163	0.93656	.;.;Calcium binding and coiled-coil domain-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1246.98	34	chr12	53716343	.	C	G	1246.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.163e+00;DP=831;ExcessHet=0.0000;FS=3.306;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.31;ReadPosRankSum=-1.306e+00;SOR=0.915	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1252	20	0	1	0
chr12	53939187	53939187	C	A	exonic	HOXC13	.	nonsynonymous SNV	HOXC13:NM_017410:exon1:c.C281A:p.T94K,	Ectodermal dysplasia 9, hair/nail type, Autosomal recessive	.	12	1487	23	0	0	23	0.00767434	.	.	1640822	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.11	T	0.485	P	0.339	B	0.032	N	1.000	D	1.965	M	0.93	T	-0.943	T	0.125	T	0.359	3.126	16.45	2.18	0.875	4.036	11.043	0.066	.	0.0020	0.00179712	0.0106	0	0	0	.	0.0202	0.0303	0.0080	0.001313	203	154602	rs35956662	0.0034	0.0033	0.0033	0.0035	0.0067	0.0033	0.0033	0.0054	0.0053	0.0006	0.0019	0.0097	0	0.0001	0.0067	0.0033	0.0052	0.0059	0.0026	0.0026	0.0025	0.0026	0.0075	0.0024	0.0023	0.0055	0.0049	0.0007	0.0044	0.0027	0.0098	0.0002	9.422e-05	0.0034	0.0035	0.0019	0.0075	0.026	0.46910	D	0.479	0.11933	T	0.485	0.36856	P	0.339	0.42346	B	0.031578	0.25149	N	0.371947	0.999716	0.48481	D	2.085	0.57729	M	0.93	0.44065	T	-1.04	0.27259	N	0.268	0.30347	-0.9433	0.42089	T	0.125	0.42924	T	10	0.008624017	0.00195	T	.	.	.	0.066	0.19193	.	.	0.813705457287	0.81195	0.403404937846777	0.40256	1.12689119134	0.78475	0.935851693153	0.99285	D	0.089463	0.38377	T	-0.440038	0.01293	T	-0.401692	0.33188	T	0.0272756134646228	0.01583	T	0.856014	0.54441	D	0.15031296	0.34224	0.25240475	0.50869	0.17038836	0.37610	0.25978565	0.51732	-3.722	0.19643	T	.	.	0.413	0.60281	A	.	.	3.903456	0.56875	23.8	0.97037023126608246	0.32093	0.63047	0.31968	D	AEFDGBHCI	0.504548	0.53607	D	0.000596177405441434	0.41883	2.513233	-0.00366675158406025	0.39549	2.346664	0.99999999999984	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	3.1	2.18	0.26813	4.016000	0.56871	5.820000	0.50076	0.529000	0.24592	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1887:0.8113:0.0:0.0	11.043	0.47059	214	0.91692	Homeobox protein Hox1A3 N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	431.98	36	chr12	53939187	.	C	A	431.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.565;DP=773;ExcessHet=0.0000;FS=4.498;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.82;ReadPosRankSum=0.540;SOR=0.249	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1167	20	0	1	0
chr12	53973795	53973795	C	A	exonic	HOXC11	.	nonsynonymous SNV	HOXC11:NM_014212:exon1:c.C554A:p.P185Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.001	B	0.001	B	0.001	D	0.892	D	0	N	1.82	T	-0.138	T	0.491	T	0.242	0.867	8.514	3.24	2.338	2.955	11.385	0.074	0.20393996204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.943e-07	6.841e-07	1.379e-06	0	3.081e-05	0	0	.	.	3.081e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.29688	T	0.115	0.36630	T	0.001	0.07471	B	0.001	0.04355	B	0.000511	0.43753	D	0.197709	0.891747	0.35968	D	0	0.06538	N	-2.95	0.91903	D	-1.67	0.42001	N	0.114	0.35194	-0.1376	0.79224	T	0.491	0.80673	T	10	0.17142197	0.31859	T	0.20394	0.86903	D	0.074	0.21613	0.325	0.30711	0.912192421923	0.91131	0.46548259915495976	0.46467	.	.	0.780344367027	0.78979	T	0.036082	0.30084	T	-0.00928102	0.50366	T	-0.251108	0.49707	T	0.402309520924846	0.29029	T	0.556144	0.20452	T	0.10628061	0.25129	0.20598917	0.44792	0.10628061	0.25129	0.20598917	0.44791	-5.209	0.39033	T	.	.	0.072	0.10159	B	.;.	.;.	2.905113	0.38521	20.8	0.92200239905065018	0.21570	0.70686	0.34694	D	ALL	0.174200	0.30132	N	-0.263367602100421	0.30573	1.706008	-0.0766032370036616	0.36361	2.115014	0.9999999999998	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.21	3.24	0.36257	4.049000	0.57110	2.596000	0.33495	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.2366:0.7634:0.0:0.0	11.385	0.49019	211	0.91797	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1185.98	35	chr12	53973795	.	C	A	1185.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.311;DP=888;ExcessHet=0.0000;FS=0.809;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=0.545;SOR=0.574	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1363	20	0	1	0
chr12	54362957	54362957	G	-	exonic	GPR84	.	frameshift deletion	GPR84:NM_020370:exon2:c.895delC:p.Q299Sfs*19,	.	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.295e-05	0	0	0	0	5.993e-05	0	0	3.23e-05	5	154602	rs780521780	5.336e-05	5.336e-05	5.581e-05	5.088e-05	0.0023	4.344e-05	4.017e-05	0.0013	0.0011	2.987e-05	2.236e-05	0	0	0	0.0023	4.946e-05	0.0001	0	3.938e-05	3.937e-05	2.569e-05	5.368e-05	6.533e-05	1.714e-05	1.128e-05	4.88e-06	1.83e-06	0	0	6.533e-05	0	0	0	0.0034	2.94e-05	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2273.94	34	chr12	54362956	.	TG	T	2273.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.48;DP=872;ExcessHet=0.0000;FS=0.557;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.85;ReadPosRankSum=-8.850e-01;SOR=0.611	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1059	20	0	1	0
chr12	54363394	54363394	G	A	exonic	GPR84	.	nonsynonymous SNV	GPR84:NM_020370:exon2:c.C458T:p.A153V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	1.0	D	0.991	D	0.000	D	1.000	D	0.89	L	-0.52	T	-0.552	T	0.368	T	0.759	4.080	21.0	5.02	2.496	2.102	16.201	0.403	0.0237397125168	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1345501624	2.755e-06	2.742e-06	1.372e-06	4.151e-06	3.627e-06	6.5e-07	4.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.627e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.011	0.64786	D	1.0	0.90584	D	0.991	0.79672	D	0.000478	0.44119	D	0.088981	0.999998	0.58761	D	1.465	0.36909	L	-0.52	0.70717	T	0.23	0.04613	N	0.196	0.21580	-0.5516	0.66726	T	0.368	0.72788	T	10	0.3502603	0.51901	T	0.02374	0.46713	T	0.403	0.71636	0.571	0.69431	0.809007091605	0.80721	0.2760080514280935	0.27513	0.162976829088	0.18394	0.490764260292	0.37544	T	0.005184	0.04625	T	0.118655	0.66237	D	-0.0673364	0.65815	T	0.74129194021225	0.42806	D	0.725127	0.33902	T	0.11525833	0.27201	0.15893412	0.37092	0.11525833	0.27201	0.15893412	0.37091	-4.201	0.26766	T	.	.	0.081	0.08224	B	.;.	.;.	3.791423	0.54572	23.5	0.99915949351705269	0.98379	0.88390	0.48296	D	AEFBI	0.518746	0.54431	D	0.36141034936137	0.59345	4.113099	0.384589246084373	0.60614	4.250998	0.999999998215978	0.74766	0.497415	0.19182	0	0.541556	0.11502	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.02	5.02	0.66742	1.850000	0.38968	5.121000	0.47587	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.822000	0.38733	0.0:0.0:1.0:0.0	16.201	0.81895	686	0.59327	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3125	972.57	59	chr12	54363394	.	G	A	972.57	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-3.390e+00;DP=1918;ExcessHet=6.1002;FS=237.561;InbreedingCoeff=-0.4326;MLEAC=12;MLEAF=0.375;MQ=60.00;MQRankSum=0.00;QD=0.94;ReadPosRankSum=0.851;SOR=11.822	GT:AD:DP:GQ:PL	0/1:71,28:99:99:102,0,1549	6	0	10	5
chr12	54363770	54363770	C	-	exonic	GPR84	.	frameshift deletion	GPR84:NM_020370:exon2:c.82delG:p.V28Wfs*5,	.	.	428	1092	1	1	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0177	.	8.353e-05	0	8.749e-05	0	0	0.0001	0	6.289e-05	6.47e-05	10	154602	rs759103894	5.063e-05	5.746e-05	4.357e-05	5.777e-05	0.0005	4.126e-05	3.779e-05	0.0001	7.541e-05	0	4.473e-05	0	0	0	0.0005	5.216e-05	9.937e-05	5.798e-05	5.924e-05	5.913e-05	9.006e-05	2.696e-05	0.0001	3.082e-05	2.214e-05	5.847e-05	4.243e-05	0	0	6.557e-05	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1030.94	38	chr12	54363769	.	AC	A	1030.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.600e-02;DP=865;ExcessHet=0.0000;FS=0.823;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=1.94;SOR=0.551	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr12	54405898	54405898	C	T	exonic	ITGA5	.	nonsynonymous SNV	ITGA5:NM_002205:exon10:c.G935A:p.R312Q,	.	.	430	1085	7	0	0	7	0.00321543	.	.	713621	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.65	T	0.02	B	0.003	B	0.197	N	0.999	N	0.25	N	2.0	T	-0.962	T	0.022	T	0.091	1.012	9.133	-0.131	0.072	-0.604	8.640	0.019	.	.	0.00998403	0.0066	0	8.639e-05	0.0001	0	7.493e-05	0.0055	0.0480	0.0057502	889	154602	rs200642938	0.0029	0.0029	0.0016	0.0042	0.0462	0.0028	0.0028	0.0450	0.0445	2.987e-05	0	0	0.0001	1.873e-05	0.0038	7.195e-05	0.0024	0.0462	0.0014	0.0015	0.0008	0.0022	0.0438	0.0013	0.0012	0.0390	0.0371	2.409e-05	0	6.543e-05	0	0.0002	0	0	8.825e-05	0	0.0438	0.63	0.05152	T	0.629	0.07220	T	0.02	0.18235	B	0.003	0.08700	B	0.197463	0.16686	N	0.597438	0.998776	0.21918	N	.	.	.	2.0	0.21473	T	0.17	0.05125	N	0.146	0.14763	-0.9621	0.38781	T	0.022	0.09421	T	10	0.0018360019	0.00025	T	.	.	.	0.019	0.03383	.	.	0.244449712813	0.24043	0.36604789461126475	0.36518	0.359438089845	0.37635	0.205252125859	0.00625	T	0.205563	0.56466	T	-0.683526	0.00046	T	-0.720307	0.04781	T	0.0298764488390256	0.01970	T	0.606339	0.22814	T	0.09642578	0.22712	0.06858754	0.14344	0.09642578	0.22711	0.06858754	0.14343	-4.591	0.32058	T	.	.	0.074	0.05274	B	.	.	1.851172	0.23518	16.05	0.90458860752526327	0.19717	0.09942	0.15581	N	AEFGBCI	0.058386	0.10951	N	-1.01411365760242	0.08310	0.389209	-0.903179767292804	0.12018	0.6158372	0.99999797527629	0.74766	0.67177	0.52595	0	0.627178	0.54094	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.82	-0.131	0.12835	-0.912000	0.04155	-0.576000	0.08401	-0.173000	0.11020	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.0:0.5514:0.0:0.4486	8.640	0.33132	529	0.73716	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1089.98	34	chr12	54405898	.	C	T	1089.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=812;ExcessHet=0.0000;FS=5.526;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.29;ReadPosRankSum=-5.570e-01;SOR=0.694	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1238	20	0	1	0
chr12	54531560	54531560	G	C	exonic	NCKAP1L	.	nonsynonymous SNV	NCKAP1L:NM_001184976:exon24:c.G2524C:p.A842P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.005	B	0.012	B	0.002	N	0.994	D	0.83	L	1.44	T	-1.099	T	0.051	T	0.317	2.513	14.36	4.79	2.657	4.066	11.409	0.059	0.00528426266792	.	.	4.121e-05	0	0.0002	0	0	1.499e-05	0	0.0001	3.88e-05	6	154602	rs573490699	4.857e-05	4.857e-05	4.356e-05	5.363e-05	0.0003	3.926e-05	3.604e-05	0.0002	0.0001	0	4.472e-05	0	0	0	0	3.957e-05	4.967e-05	0.0003	3.285e-05	3.283e-05	1.285e-05	5.38e-05	0.0004	1.261e-05	7.98e-06	7.285e-05	3.027e-05	2.413e-05	0	0.0001	0	0	0	0	0	0	0.0004	0.168	0.23450	T	0.187	0.28764	T	0.005	0.12996	B	0.012	0.16012	B	0.002335	0.36766	N	0.217757	0.993918	0.42096	D	1.01	0.25309	L	1.44	0.32722	T	-1.98	0.45769	N	0.199	0.21969	-1.0991	0.04202	T	0.051	0.21844	T	10	0.13698354	0.26061	T	0.005284	0.13494	T	0.059	0.16972	0.669	0.80703	0.0934897674506	0.08844	0.6404329607726851	0.63978	0.571821750903	0.53292	0.571662604809	0.48914	T	0.31702	0.68851	T	-0.345731	0.05001	T	-0.442246	0.28557	T	0.0340281299024333	0.02643	T	0.687031	0.29593	T	0.44359243	0.63633	0.38845733	0.63689	0.44359243	0.63634	0.38845733	0.63689	-7.639	0.58659	D	.	.	0.128	0.27252	B	.;.	.;.	3.546529	0.49836	22.8	0.99492055242244182	0.67516	0.95263	0.64045	D	AEFGBI	0.866066	0.78537	D	-0.084146198658965	0.38086	2.225437	0.0967477254710982	0.44384	2.721265	0.999910794280972	0.45857	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	4.79	4.79	0.60909	4.554000	0.60470	5.714000	0.49438	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.1824:0.8175:0.0	11.409	0.49159	722	0.55239	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1892.98	34	chr12	54531560	.	G	C	1892.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.352;DP=827;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.62;ReadPosRankSum=0.137;SOR=0.645	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1210	20	0	1	0
chr12	54854641	54854641	G	T	splicing	MUCL1	NM_058173:exon1:c.58+1G>T	.	.	.	.	437	1080	3	2	0	7	0.00323027	0.9999	0.616	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	-0.253	2.781	-0.273	-0.064	0.042	4.446	.	.	0.0002	0.00878594	0.0050	0.0003	0.0002	0	0	3.008e-05	0.0022	0.0362	0.0043466	672	154602	rs142903254	0.0021	0.0021	0.0012	0.0031	0.0336	0.0021	0.0020	0.0326	0.0322	0.0001	2.242e-05	0	2.522e-05	0	0.0010	5.944e-05	0.0024	0.0336	0.0013	0.0013	0.0007	0.0020	0.0396	0.0012	0.0011	0.0350	0.0333	7.227e-05	0	0	0	0	0	0	5.881e-05	0.0005	0.0396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.20694	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.745035	0.00019	T	-0.816508	0.01524	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.602264	0.50884	23.0	0.47374309916668028	0.03868	0.06979	0.13005	N	AEFDBCI	.	.	.	0.117304720701423	0.47271	2.955087	-0.302426478150789	0.28021	1.559088	5.56053735295661E-4	0.07304	0.056015	0.00742	1	0.059962	0.00310	0	0.060301	0.00762	0	0.076217	0.02064	0	0.0803246	0.18482	3.28	-0.273	0.12276	0.058000	0.14178	-3.551000	0.02702	0.676000	0.76740	0.193000	0.24225	0.000000	0.08366	0.086000	0.17578	0.1959:0.2048:0.5993:0.0	4.446	0.11018	624	0.65661	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1244.98	40	chr12	54854641	.	G	T	1244.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.210e-01;DP=894;ExcessHet=0.0000;FS=0.704;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=0.046;SOR=0.598	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	20	0	1	0
chr12	55130037	55130037	A	G	exonic	OR9K2	.	nonsynonymous SNV	OR9K2:NM_001005243:exon1:c.A269G:p.N90S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.985	D	0.86	P	0.000	D	0.504	D	2.035	M	2.65	T	-0.984	T	0.076	T	0.16	3.186	16.66	4.98	2.223	4.181	14.810	0.144	0.00431344909494	.	.	.	.	.	.	.	.	.	.	.	.	.	rs771600693	1.376e-06	1.301e-05	1.369e-06	1.382e-06	1.162e-05	2.3e-07	9e-08	.	.	0	0	0	0	1.916e-05	0	0	0	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.21224	T	0.178	0.29639	T	0.985	0.61118	D	0.86	0.61233	P	0.000042	0.53742	D	0.000000	0.504326	0.31767	D	1.62	0.41497	L	2.65	0.12676	T	-3.15	0.64132	D	0.176	0.18920	-0.9843	0.33998	T	0.076	0.30645	T	10	0.28129894	0.45706	T	0.004313	0.10467	T	0.144	0.38394	0.467	0.53891	0.454145904683	0.45038	0.395301661808567	0.39445	0.0199640575762	0.01959	0.255974888802	0.04423	T	0.013731	0.11823	T	-0.242355	0.15051	T	-0.585903	0.14022	T	0.806055068969727	0.46770	D	0.713029	0.32487	T	0.20844452	0.43081	0.3065049	0.56675	0.20844452	0.43081	0.3065049	0.56675	-5.812	0.44679	T	.	.	0.110	0.24532	B	.;.;.	.;.;.	3.261191	0.44598	22.0	0.99814947840031498	0.89885	0.92047	0.54827	D	AEFBI	0.357541	0.44853	N	0.512638152296228	0.67835	5.135115	0.487860843091837	0.67183	5.050222	0.0100889562602125	0.11964	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.98	4.98	0.65679	3.250000	0.51146	.	.	0.754000	0.88378	0.058000	0.21700	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.810	0.69612	862	0.33134	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	36.98	33	chr12	55130037	.	A	G	36.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.001e+00;DP=1905;ExcessHet=0.0000;FS=148.454;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.20;ReadPosRankSum=1.32;SOR=7.743	GT:AD:DP:GQ:PL	0/0:130,0:130:99:0,120,1800	20	0	1	0
chr12	55221386	55221386	A	G	exonic	OR10A7	.	nonsynonymous SNV	OR10A7:NM_001005280:exon1:c.A362G:p.D121G,	.	.	427	1092	3	0	0	3	0.00137174	.	.	2382076	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.999	D	0.985	D	0.001	D	1.000	D	4.155	H	2.23	T	-0.470	T	0.189	T	0.776	3.684	18.72	3.25	1.502	8.309	11.719	0.449	0.00768443183659	7.7e-05	.	0.0002	0	0	0	0.0006	0.0002	0	0	0.0001229	19	154602	rs368770820	9.099e-05	9.098e-05	9.666e-05	8.527e-05	0.0003	7.824e-05	7.306e-05	6.522e-05	6.081e-05	0	0	0.0007	0	0.0003	0.0003	7.914e-05	9.936e-05	1.159e-05	0.0001	0.0001	0.0001	0.0001	0.0002	7.104e-05	5.758e-05	9.056e-05	7.018e-05	0	0	0	0.0014	0	9.457e-05	0	0.0002	0	0	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.985	0.76457	D	0.000721	0.42254	D	0.000000	0.999503	0.47320	D	3.805	0.95442	H	2.23	0.18083	T	-6.78	0.92825	D	0.704	0.70790	-0.4704	0.69711	T	0.189	0.53975	T	10	0.6303084	0.68478	D	0.007684	0.20378	T	0.449	0.75004	.	.	0.609368579385	0.60622	0.46309142427281985	0.46228	0.03340616035	0.03497	0.246558338404	0.03414	T	0.066055	0.32847	T	-0.129596	0.31561	T	-0.0918676	0.64021	T	0.921344339847565	0.58094	D	0.917108	0.70302	D	0.9346192	0.94702	0.9173835	0.96214	0.9346192	0.94702	0.9173835	0.96214	-9.052	0.68032	D	.	.	0.733	0.74350	P	.	.	4.624723	0.73477	26.0	0.99822649964246302	0.90502	0.99101	0.91240	D	AEFBI	0.809439	0.73295	D	0.849884405555324	0.89102	9.835342	0.680544863284871	0.80904	7.403595	0.441711344221848	0.20459	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.25	3.25	0.36363	8.712000	0.91099	.	.	0.703000	0.85290	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	1.0:0.0:0.0:0.0	11.719	0.50934	862	0.33134	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2103.98	34	chr12	55221386	.	A	G	2103.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.970e-01;DP=871;ExcessHet=0.0000;FS=1.850;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=-1.256e+00;SOR=0.872	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1207	20	0	1	0
chr12	55321080	55321080	C	T	exonic	OR6C1	.	nonsynonymous SNV	OR6C1:NM_001005182:exon1:c.C481T:p.L161F,	.	.	442	1079	1	0	0	1	0.000463177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.003	B	0.02	B	0.240	N	1.000	N	1.25	L	8.69	T	-1.065	T	0.000	T	0.053	-0.911	0.416	-2.37	-0.079	-0.808	7.513	0.020	.	0.0071	0.00359425	0.0018	0.0200	0.0005	0	0	3.033e-05	0.0022	0	0.0016235	251	154602	rs77291764	0.0005	0.0005	0.0006	0.0004	0.0190	0.0005	0.0005	0.0178	0.0173	0.0190	0.0005	0	0	0	0.0019	3.329e-05	0.0013	4.639e-05	0.0054	0.0054	0.0059	0.0049	0.0190	0.0051	0.0050	0.0179	0.0174	0.0190	0	0.0012	0	0	0	0	7.351e-05	0.0047	0	0.755	0.03533	T	0.712	0.05488	T	0.003	0.11197	B	0.02	0.19048	B	0.239561	0.15741	N	0.570931	1	0.08975	N	1.005	0.25186	L	8.69	0.00119	T	-0.07	0.08033	N	0.057	0.02861	-1.0653	0.10479	T	0.000	0.00075	T	10	0.002490759	0.00037	T	.	.	.	0.020	0.03691	.	.	0.151104730317	0.14643	0.04865050334645777	0.04808	0.013914660677	0.01327	0.20371003449	0.00572	T	0.002361	0.01759	T	-0.734356	0.00022	T	-0.812033	0.01619	T	0.00416006033815956	0.00044	T	0.079992	0.00590	T	0.047933973	0.08274	0.040941115	0.04540	0.047933973	0.08274	0.040941115	0.04539	-7.387	0.56813	T	.	.	0.133	0.28636	B	.;.	.;.	-0.802936	0.01101	0.049	0.37902131664170369	0.02525	0.06353	0.12352	N	AEFBI	0.081707	0.16535	N	-0.997986499593772	0.08647	0.4062158	-1.0366282273442	0.08987	0.4447202	3.07196562789965E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.62	-2.37	0.06262	-1.475000	0.02441	.	.	0.578000	0.29377	0.000000	0.06391	0.000000	0.08366	0.993000	0.69303	0.1068:0.401:0.4203:0.0719	7.513	0.26752	862	0.33134	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1577.98	133	chr12	55321080	.	C	T	1577.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.210e-01;DP=2633;ExcessHet=0.0000;FS=1.412;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.43;ReadPosRankSum=0.483;SOR=0.831	GT:AD:DP:GQ:PL	0/0:121,0:121:99:0,120,1800	20	0	1	0
chr12	55321464	55321464	A	C	exonic	OR6C1	.	nonsynonymous SNV	OR6C1:NM_001005182:exon1:c.A865C:p.S289R,	.	.	428	1048	45	1	0	47	0.0219319	.	.	2807066	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.575	P	0.382	B	0.000	D	1.000	N	2.71	M	1.09	T	-0.795	T	0.144	T	0.527	2.169	13.21	5.34	2.228	1.003	15.134	0.219	.	0.0052	0.00139776	0.0054	0.0010	0.0061	0.0001	0.0006	0.0076	0.0110	0.0036	0.0052005	804	154602	rs141094641	0.0051	0.0051	0.0049	0.0052	0.0314	0.0050	0.0049	0.0277	0.0262	0.0014	0.0059	0.0349	2.52e-05	0.0004	0.0314	0.0047	0.0074	0.0040	0.0046	0.0046	0.0048	0.0043	0.0059	0.0043	0.0042	0.0052	0.0050	0.0009	0	0.0059	0.0358	0	0.0005	0.0442	0.0056	0.0076	0.0052	0.0	0.91255	D	0.0	0.92824	D	0.575	0.38708	P	0.382	0.43908	B	0.000052	0.53742	D	0.080364	1	0.08975	N	2.81	0.81869	M	1.09	0.39223	T	-2.14	0.48523	N	0.595	0.61426	-0.7955	0.55409	T	0.144	0.46660	T	10	0.006237328	0.00141	T	.	.	.	0.219	0.51417	0.733	0.86633	0.670434146419	0.66765	0.4117765149494357	0.41093	0.0552029983548	0.06109	0.194632589817	0.00318	T	0.030314	0.21516	T	-0.379325	0.03146	T	-0.315454	0.43071	T	0.0654558882466003	0.07998	T	0.942106	0.78341	D	0.86085105	0.88151	0.85457575	0.91812	0.86085105	0.88153	0.85457575	0.91813	-9.011	0.67769	D	.	.	0.791	0.76883	P	.;.	.;.	2.732240	0.35768	19.98	0.9952301045189802	0.69346	0.26884	0.23121	N	AEFBI	0.104890	0.20974	N	0.076724186239751	0.45379	2.795396	0.0321144469860912	0.41215	2.472428	1.07706437557489E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.34	5.34	0.75982	1.185000	0.31675	.	.	0.728000	0.85494	0.038000	0.20882	0.002000	0.18203	0.946000	0.48989	1.0:0.0:0.0:0.0	15.134	0.72222	862	0.33134	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2481.98	39	chr12	55321464	.	A	C	2481.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.031e+00;DP=1110;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.27;ReadPosRankSum=-1.543e+00;SOR=0.663	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr12	55321471	55321471	G	A	exonic	OR6C1	.	nonsynonymous SNV	OR6C1:NM_001005182:exon1:c.G872A:p.R291K,	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.038	B	0.117	B	0.000	D	0.916	N	0.975	L	1.05	T	-1.027	T	0.048	T	0.066	1.996	12.63	5.34	2.761	2.741	9.450	0.136	.	0.0068	0.00419329	0.0019	0.0206	0.0005	0	0	3.003e-05	0.0022	6.067e-05	0.0016947	262	154602	rs77355728	0.0006	0.0006	0.0007	0.0004	0.0200	0.0005	0.0005	0.0187	0.0182	0.0200	0.0005	0	0	0	0.0019	2.249e-05	0.0013	5.811e-05	0.0056	0.0056	0.0061	0.0051	0.0194	0.0053	0.0052	0.0183	0.0179	0.0194	0	0.0018	0	0	0	0	7.352e-05	0.0057	0	0.023	0.48186	D	0.017	0.60337	D	0.038	0.21002	B	0.117	0.32014	B	0.000003	0.62929	D	0.000000	0.915742	0.27408	N	1.83	0.48079	L	1.05	0.39990	T	-2.61	0.56144	D	0.193	0.21188	-1.0267	0.21527	T	0.048	0.20434	T	10	0.007920712	0.00180	T	.	.	.	0.136	0.36778	.	.	0.722062237389	0.71960	0.26182596535708996	0.26095	0.016735574833	0.01616	0.189860463142	0.00223	T	0.00618	0.05618	T	-0.596719	0.00153	T	-0.613666	0.11689	T	0.0259100305714238	0.01394	T	0.658334	0.26756	T	0.46367675	0.64900	0.292589	0.55286	0.46367675	0.64900	0.292589	0.55285	-8.797	0.66381	D	.	.	0.183	0.39748	B	.;.	.;.	3.060375	0.41100	21.3	0.98111561495520472	0.38359	0.72080	0.35295	D	AEFBI	0.112625	0.22255	N	-0.0888098331404784	0.37881	2.210459	0.0435486194095802	0.41760	2.51436	1.46150422247132E-4	0.05573	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.34	5.34	0.75982	3.475000	0.52900	.	.	0.652000	0.53365	0.983000	0.35670	0.267000	0.24023	0.926000	0.46234	0.1561:0.0:0.8439:0.0	9.450	0.37885	862	0.33134	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1901.98	39	chr12	55321471	.	G	A	1901.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=992;ExcessHet=0.0000;FS=6.451;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.57;ReadPosRankSum=0.078;SOR=0.378	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr12	55332198	55332198	T	-	exonic	OR6C3	.	frameshift deletion	OR6C3:NM_054104:exon1:c.498delT:p.C166Wfs*27,	.	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0070	0.00419329	0.0019	0.0207	0.0005	0	0	2.997e-05	0.0022	0	0.0002689	7	26028	rs113770805	0.0006	0.0006	0.0007	0.0004	0.0200	0.0005	0.0005	0.0188	0.0183	0.0200	0.0005	0	0	0	0.0019	2.248e-05	0.0013	4.637e-05	0.0056	0.0056	0.0061	0.0051	0.0194	0.0053	0.0052	0.0183	0.0179	0.0194	0	0.0018	0	0	0	0	7.351e-05	0.0057	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3721.94	39	chr12	55332197	.	GT	G	3721.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.387e+00;DP=1045;ExcessHet=0.0000;FS=2.313;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.00;ReadPosRankSum=-1.424e+00;SOR=0.544	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr12	55365429	55365429	G	A	exonic	OR6C75	.	nonsynonymous SNV	OR6C75:NM_001005497:exon1:c.G319A:p.V107M,	.	.	.	.	.	.	.	.	.	.	.	2383630	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.76	P	0.77	P	0.002	U	1.000	N	1.355	L	4.07	T	-1.129	T	0.024	T	0.255	3.001	16.01	4.32	2.734	-0.217	13.219	0.102	0.00333610846567	0.0002	.	6.594e-05	0.0007	8.664e-05	0	0	0	0	0	5.17e-05	8	154602	rs199851582	3.147e-05	3.147e-05	3.267e-05	3.025e-05	0.0010	2.412e-05	2.158e-05	0.0007	0.0006	0.0010	0.0001	0	0	0	0	3.597e-06	8.279e-05	0	0.0002	0.0002	0.0003	0.0002	0.0007	0.0002	0.0002	0.0005	0.0005	0.0007	0	0.0004	0	0	0	0	1.471e-05	0.0005	0	0.011	0.55530	D	0.005	0.72224	D	0.76	0.43524	P	0.77	0.56828	P	0.002128	0.37183	U	0.000000	1	0.08975	N	1.11	0.28643	L	4.07	0.03033	T	-1.55	0.37566	N	0.187	0.20395	-1.1291	0.01826	T	0.024	0.10239	T	10	0.06939587	0.09950	T	0.003336	0.07421	T	0.102	0.29158	.	.	0.213573922156	0.20996	0.2139818249336312	0.21314	0.26967950493	0.29493	0.23079225421	0.02027	T	0.026181	0.19430	T	-0.521371	0.00432	T	-0.614426	0.11628	T	0.112329947307744	0.13664	T	0.483852	0.14720	T	0.20012867	0.41977	0.18727486	0.41949	0.20012867	0.41977	0.18727486	0.41948	-6.44	0.49821	T	.	.	0.192	0.41109	B	.;.	.;.	2.297888	0.29402	18.11	0.99813437132307314	0.89708	0.09145	0.14959	N	AEFHI	0.078079	0.15746	N	0.188653324518324	0.50653	3.253409	0.168977627917758	0.48157	3.035418	1.97140607919196E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.25	4.32	0.50899	-1.056000	0.03600	.	.	0.648000	0.52827	0.000000	0.06391	0.000000	0.08366	0.841000	0.39698	0.0:0.0:0.7582:0.2418	13.219	0.59301	762	0.50290	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1444.98	42	chr12	55365429	.	G	A	1444.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.297;DP=881;ExcessHet=0.0000;FS=0.641;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.70;ReadPosRankSum=-9.450e-01;SOR=0.765	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1086	20	0	1	0
chr12	55400566	55400566	T	A	exonic	OR6C65	.	nonsynonymous SNV	OR6C65:NM_001005518:exon1:c.T38A:p.L13Q,	.	.	463	1058	1	0	0	1	0.000472367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.552	P	0.297	B	0.199	U	1.000	N	2.63	M	6.01	T	-0.999	T	0.003	T	0.374	1.521	11.04	2.99	0.712	0.382	8.447	0.075	.	7.7e-05	0.00259585	0.0028	0	0.0257	0	0	7.056e-05	0	0.0001	0.0024256	375	154602	rs12424958	0.0007	0.0008	0.0008	0.0006	0.0242	0.0007	0.0007	0.0228	0.0223	0.0003	0.0242	0	2.563e-05	9.699e-05	0	3.787e-05	0.0011	0.0002	0.0026	0.0026	0.0018	0.0034	0.0243	0.0024	0.0023	0.0223	0.0215	0.0003	0	0.0243	0	0.0006	0	0	0.0001	0.0014	0.0002	0.02	0.49613	D	0.06	0.45744	T	0.552	0.38158	P	0.297	0.40924	B	0.198607	0.16658	U	0.330447	1	0.08975	N	2.04	0.55661	M	6.01	0.00602	T	-4.49	0.78046	D	0.383	0.42443	-0.9990	0.30199	T	0.003	0.01092	T	10	0.0065965354	0.00149	T	.	.	.	0.075	0.21907	.	.	0.0611884634855	0.05136	0.05957477579447645	0.05897	0.170627185086	0.19233	0.239717155695	0.02765	T	0.108544	0.42167	T	-0.526181	0.00405	T	-0.510346	0.21279	T	0.0342462936018793	0.02679	T	0.831917	0.49916	T	0.3877447	0.59871	0.3490638	0.60537	0.3877447	0.59872	0.3490638	0.60536	-8.322	0.63244	D	.	.	0.097	0.15654	B	.	.	1.957861	0.24871	16.56	0.94803468321625683	0.25556	0.07083	0.13109	N	AEFGBI	0.063966	0.12395	N	-0.404951835241145	0.25295	1.37207	-0.558971071053081	0.20567	1.108715	2.24419591076321E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.17	2.99	0.33673	0.183000	0.16729	.	.	0.420000	0.20791	0.001000	0.13787	0.000000	0.08366	0.036000	0.13842	0.3103:0.0:0.0:0.6897	8.447	0.32008	797	0.45241	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	777.98	33	chr12	55400566	.	T	A	777.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.980e+00;DP=826;ExcessHet=0.0000;FS=1.816;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.94;ReadPosRankSum=-1.735e+00;SOR=0.901	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1620	20	0	1	0
chr12	55426420	55426420	C	G	exonic	OR6C76	.	nonsynonymous SNV	OR6C76:NM_001005183:exon1:c.C167G:p.P56R,	.	.	434	1082	6	0	0	6	0.00276498	.	.	2735439	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.998	D	0.968	D	0.001	U	0.953	D	4.455	H	4.49	T	-0.742	T	0.064	T	0.595	3.532	18.03	4.35	2.405	5.108	17.015	0.196	0.0132700389094	.	.	0.0001	9.615e-05	0	0	0	0.0002	0	0.0001	0.00011	17	154602	rs778131455	7.526e-05	7.524e-05	5.582e-05	9.49e-05	0.0035	6.383e-05	5.939e-05	0.0023	0.0019	0.0001	0	0	0	1.873e-05	0.0035	5.576e-05	0.0002	0.0001	1.314e-05	1.312e-05	2.571e-05	0	1.471e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	1.471e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.968	0.71741	D	0.000692	0.42383	U	0.000000	0.952997	0.37810	D	3.965	0.96539	H	4.49	0.02049	T	-8.03	0.96581	D	0.728	0.72925	-0.7422	0.58339	T	0.064	0.26349	T	10	0.80940235	0.80241	D	0.01327	0.32542	T	0.196	0.47777	.	.	0.204665344411	0.20097	0.40013164558105546	0.39928	0.265818566732	0.29134	0.222269922495	0.01445	T	0.013642	0.11764	T	-0.246786	0.14496	T	-0.300119	0.44712	T	0.967052042484283	0.67783	D	0.850515	0.53399	D	0.8880923	0.90344	0.8630441	0.92388	0.8880923	0.90346	0.8630441	0.92388	-10.876	0.78973	D	.	.	0.191	0.40952	B	.	.	2.739929	0.35886	20.1	0.99795603440528824	0.88106	0.97970	0.78525	D	AEFI	0.510336	0.53943	D	0.855644782669748	0.89428	9.967367	0.68748287372722	0.81429	7.524262	0.341869315816874	0.19592	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.35	4.35	0.51454	5.481000	0.66549	.	.	0.520000	0.23804	0.984000	0.35821	0.138000	0.23065	0.855000	0.40485	0.0:1.0:0.0:0.0	17.015	0.86290	707	0.57054	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2004.98	49	chr12	55426420	.	C	G	2004.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.92;DP=1126;ExcessHet=0.0000;FS=4.252;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=-9.710e-01;SOR=0.728	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,111,1405	20	0	1	0
chr12	55427175	55427175	-	A	exonic	OR6C76	.	frameshift insertion	OR6C76:NM_001005183:exon1:c.922dupA:p.H312Tfs*2,	.	.	20	137	43	12	14	81	0.196481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3673.16	49	chr12	55427174	.	CA	C,CAA	3673.16	.	AC=9,1;AF=0.214,0.024;AN=42;BaseQRankSum=0.114;DP=906;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3243;MLEAC=9,1;MLEAF=0.214,0.024;MQ=60.00;MQRankSum=0.00;QD=9.47;ReadPosRankSum=0.243;SOR=0.727	GT:AD:DP:GQ:PL	0/0:28,0,2:30:37:0,84,729,37,682,676	11	0	9	0
chr12	55452341	55452341	T	C	exonic	OR6C2	.	nonsynonymous SNV	OR6C2:NM_054105:exon1:c.T128C:p.I43T,	.	.	434	1061	25	2	0	29	0.0134821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.989	D	0.000	D	0.790	D	3.22	M	6.76	T	-1.037	T	0.008	T	0.81	3.488	17.84	5.42	2.275	7.111	14.421	0.282	0.0016528426431	0.0015	0.000998403	0.0024	9.615e-05	0.0017	0.0001	0.0005	0.0033	0.0011	0.0024	0.0022121	342	154602	rs145941340	0.0019	0.0019	0.0018	0.0020	0.0125	0.0018	0.0018	0.0102	0.0093	0.0005	0.0021	0.0105	2.52e-05	0.0002	0.0125	0.0017	0.0027	0.0026	0.0018	0.0018	0.0019	0.0017	0.0030	0.0016	0.0015	0.0023	0.0021	0.0002	0	0.0030	0.0112	0	0.0003	0.0272	0.0022	0.0005	0.0029	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.989	0.78396	D	0.000016	0.62929	D	0.000000	0.790344	0.34378	D	2.655	0.77738	M	6.76	0.00492	T	-4.51	0.78222	D	0.344	0.38541	-1.0369	0.18264	T	0.008	0.02679	T	10	0.0125878155	0.00270	T	0.001653	0.02702	T	0.282	0.59981	.	.	0.420073118136	0.41620	0.19720575795594664	0.19637	0.00552308939964	0.00483	0.307860404253	0.11583	T	0.041707	0.25945	T	-0.264687	0.12355	T	-0.157597	0.58567	T	0.0822868449318139	0.10277	T	0.868313	0.57032	D	0.6321535	0.74413	0.54170585	0.73513	0.6321535	0.74414	0.54170585	0.73513	-10.371	0.76103	D	.	.	0.712	0.73446	P	.;.;.	.;.;.	3.067158	0.41210	21.3	0.99425988388501674	0.64032	0.99092	0.91107	D	AEFI	0.676045	0.64122	D	0.625462624378572	0.74788	6.192773	0.47252562369448	0.66174	4.918085	0.0541079763769736	0.14960	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	5.926000	0.69791	.	.	0.645000	0.52629	0.993000	0.37899	0.951000	0.29025	0.001000	0.02609	0.0:0.0:0.0:1.0	14.421	0.66755	783	0.47268	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1163.98	35	chr12	55452341	.	T	C	1163.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.483;DP=839;ExcessHet=0.0000;FS=1.425;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.56;ReadPosRankSum=-5.440e-01;SOR=0.879	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr12	55692966	55692966	T	C	exonic	ITGA7	.	nonsynonymous SNV	ITGA7:NM_001367994:exon20:c.A1378G:p.S460G	Muscular dystrophy, congenital, due to ITGA7 deficiency, Autosomal recessive	.	2	1518	2	0	0	2	0.000658328	.	.	1048035	Congenital_muscular_dystrophy_due_to_integrin_alpha-7_deficiency	MONDO:MONDO:0013177,MedGen:C2750786,OMIM:613204,Orphanet:34520	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.33	T	0.156	B	0.197	B	0.317	N	0.995	N	1.355	L	0.76	T	-0.982	T	0.115	T	0.167	2.042	12.79	4.03	0.997	1.402	7.548	0.036	0.0159892040791	.	.	2.48e-05	0	0	0	0	4.513e-05	0	0	1.94e-05	3	154602	rs771994045	2.6e-05	2.599e-05	2.45e-05	2.75e-05	0.0002	1.932e-05	1.692e-05	1.83e-05	1.582e-05	0	0	0	0	0	0.0002	2.608e-05	0.0001	0	1.973e-05	1.97e-05	3.857e-05	0	4.412e-05	5.25e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.412e-05	0	0	0.314	0.14159	T	0.375	0.17115	T	0.0	0.28196	B	0.003	0.36707	B	0.317176	0.14333	N	0.679412	0.994554	0.23493	N	1.29	0.32370	L	0.76	0.49919	T	-1.25	0.36586	N	0.189	0.21319	-0.9816	0.34632	T	0.115	0.40808	T	10	0.11123788	0.20821	T	0.015989	0.37021	T	0.036	0.09122	0.295	0.25881	0.391000631824	0.38715	0.25109715897224344	0.25023	0.151610818243	0.17110	0.397195160389	0.24678	T	0.014996	0.42123	T	-0.228926	0.16792	T	-0.502967	0.22040	T	0.121610822379565	0.14586	T	0.670133	0.27879	T	0.04839926	0.08429	0.058261383	0.10734	0.04839926	0.08429	0.058261383	0.10733	-3.57	0.18176	T	.	.	0.071	0.03925	B	.;.;.;.;.	.;.;.;.;.	2.154655	0.27447	17.46	0.99127029115210485	0.53142	0.60574	0.31234	D	AEFGBI	0.206257	0.33253	N	-0.246889025286698	0.31228	1.748929	-0.105317329210287	0.35175	2.031935	0.852625714743848	0.25073	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	5.17	4.03	0.46115	0.930000	0.28458	.	.	0.609000	0.47794	0.980000	0.35271	1.000000	0.68203	0.904000	0.43992	0.0:0.0955:0.0:0.9045	7.548	0.26942	735	0.53711	.;.;Integrin alpha-2;.;Integrin alpha-2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	450.98	35	chr12	55692966	.	T	C	450.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.640;DP=738;ExcessHet=0.0000;FS=4.291;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.02;ReadPosRankSum=1.05;SOR=1.371	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1203	20	0	1	0
chr12	55703101	55703101	G	A	exonic	ITGA7	.	nonsynonymous SNV	ITGA7:NM_001144996:exon2:c.C284T:p.P95L	Muscular dystrophy, congenital, due to ITGA7 deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	490984	Congenital_muscular_dystrophy_due_to_integrin_alpha-7_deficiency|not_provided	MONDO:MONDO:0013177,MedGen:C2750786,OMIM:613204,Orphanet:34520|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	2.975	M	-2.98	D	0.965	D	0.882	D	0.821	3.490	17.85	4.35	2.430	4.141	14.777	0.791	0.485972845943	0.0008	0.000399361	0.0002	0.0019	0.0004	0	0	0	0	0	0.0001746	27	154602	rs143749139	4.72e-05	4.788e-05	4.492e-05	4.951e-05	0.0011	3.794e-05	3.476e-05	0.0008	0.0007	0.0011	0.0002	0	5.038e-05	0	0.0002	2.698e-06	0.0002	8.115e-05	0.0004	0.0004	0.0004	0.0004	0.0013	0.0003	0.0003	0.0011	0.0010	0.0013	0	0.0003	0	0	0	0	0	0.0005	0	0.015	0.56456	D	0.007	0.70582	D	1.0	0.90584	D	0.927	0.66185	D	0.000003	0.62929	D	0.000000	1	0.81001	D	3.22	0.89398	M	-2.98	0.92057	D	-5.05	0.85176	D	0.796	0.79214	0.965	0.96615	D	0.882	0.96072	D	10	0.42482784	0.57104	T	0.485973	0.94920	D	0.791	0.93108	.	.	0.987138323299	0.98699	0.899389648473138	0.89910	0.702318693783	0.61207	0.7773244977	0.78525	T	0.110631	0.92604	T	0.0161682	0.53862	T	0.237218	0.85015	D	0.281007544273752	0.24214	T	0.938806	0.78138	D	0.28364056	0.51395	0.31220037	0.57223	0.28364056	0.51395	0.31220037	0.57222	-9.493	0.71226	D	.	.	0.251	0.51840	B	.;.;.;.	.;.;.;.	5.043554	0.83965	28.2	0.99868206821363437	0.94637	0.97371	0.74326	D	AEFDBI	0.781053	0.71275	D	0.634802352832195	0.75389	6.297124	0.520661204285804	0.69381	5.352382	0.999999996751461	0.74766	0.617157	0.39670	1	0.588015	0.36545	0	0.786243	0.99158	0	0.542086	0.14980	0	.	.	4.35	4.35	0.51454	4.362000	0.59241	.	.	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.814000	0.38357	0.0:0.0:1.0:0.0	14.777	0.69364	720	0.55521	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	791.98	39	chr12	55703101	.	G	A	791.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.16;DP=882;ExcessHet=0.0000;FS=0.908;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.85;ReadPosRankSum=-6.110e-01;SOR=0.551	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	20	0	1	0
chr12	55837963	55837963	T	G	exonic	MMP19	.	nonsynonymous SNV	MMP19:NM_001272101:exon6:c.A800C:p.D267A	Cavitary optic disc anomalies, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.952	D	0.000	D	1.000	D	1.87	L	3.1	T	-1.191	T	0.059	T	0.901	3.428	17.59	5.94	2.279	5.685	14.350	0.294	0.0360963489804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.014	0.62352	D	0.99	0.63424	D	0.836	0.59919	P	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	.	.	.	3.1	0.08283	T	-3.05	0.62976	D	0.726	0.72746	-1.1909	0.00232	T	0.059	0.24908	T	10	0.8357687	0.82733	D	0.036096	0.56772	D	0.375	0.69358	0.637	0.77361	0.806245303446	0.80443	0.9001298553465752	0.89984	0.529680156519	0.50527	0.551856517792	0.46120	T	0.389097	0.74961	T	-0.166462	0.25773	T	-0.476888	0.24777	T	0.971916437149048	0.69498	D	0.80432	0.45191	T	0.75178605	0.80972	0.73794025	0.84511	0.75178605	0.80973	0.73794025	0.84512	-6.891	0.53233	T	.	.	0.194	0.42763	B	.;.	.;.	5.077342	0.84710	28.4	0.99357074266729006	0.60820	0.97058	0.72445	D	AEFDBI	0.922648	0.89794	D	0.688042151795739	0.78850	6.955137	0.69867077457163	0.82276	7.727517	0.999996354203375	0.74766	0.660377	0.49826	0	0.547309	0.14657	0	0.696353	0.63694	0	0.567892	0.33627	0	.	.	5.94	5.94	0.96165	4.717000	0.61614	.	.	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	14.350	0.66255	697	0.58201	Hemopexin-like domain;Hemopexin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	719.98	41	chr12	55837963	.	T	G	719.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=-6.390e-01;SOR=0.742	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr12	55840810	55840810	C	T	exonic	MMP19	.	nonsynonymous SNV	MMP19:NM_001272101:exon4:c.G377A:p.R126Q	Cavitary optic disc anomalies, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.836	P	0.106	B	0.015	N	0.642	N	1.27	L	2.5	T	-1.048	T	0.032	T	0.198	2.816	15.38	3.97	1.468	1.117	11.221	0.069	0.00758785186224	7.7e-05	.	0.0002	0.0002	0.0002	0	0	0.0004	0	0	0.000207	32	154602	rs151295753	0.0004	0.0004	0.0005	0.0004	0.0005	0.0004	0.0004	0.0005	0.0005	2.99e-05	0.0002	3.832e-05	2.524e-05	0	0	0.0005	0.0003	1.16e-05	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	9.661e-05	0	0.0001	0	0	9.42e-05	0	0.0005	0	0	0.253	0.48186	T	0.484	0.38016	T	0.473	0.36591	P	0.072	0.28043	B	0.014561	0.28499	N	0.395949	0.999987	0.18612	N	1.52	0.38360	L	2.5	0.21865	T	-0.77	0.58733	N	0.249	0.33469	-1.0483	0.14875	T	0.032	0.13635	T	10	0.09392044	0.16659	T	0.007588	0.20139	T	0.069	0.20116	.	.	0.507031862817	0.50341	0.6620516257904264	0.66142	0.262508907343	0.28810	0.295750081539	0.09769	T	0.068097	0.33369	T	-0.448639	0.01150	T	-0.562206	0.16169	T	0.0258782766759396	0.01390	T	0.723828	0.34942	T	0.09852316	0.23239	0.10035183	0.23991	0.09852316	0.23239	0.10035183	0.23991	-6.113	0.47215	T	.	.	0.108	0.34361	B	.;.;.	.;.;.	2.939999	0.39084	20.9	0.99777758586681553	0.86519	0.20207	0.20955	N	AEFBI	0.096578	0.19495	N	-0.348900876675557	0.27311	1.498	-0.290785642489873	0.28401	1.583305	0.994895949204682	0.33851	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.8	3.97	0.45241	1.737000	0.37821	.	.	-0.193000	0.09282	0.288000	0.25215	0.979000	0.30280	0.592000	0.31189	0.0:0.8459:0.0:0.1541	11.221	0.48082	697	0.58201	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain;Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1078.98	41	chr12	55840810	.	C	T	1078.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=778;ExcessHet=0.0000;FS=11.792;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.01;ReadPosRankSum=-4.590e-01;SOR=0.540	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr12	55957344	55957344	G	T	exonic	PMEL	.	nonsynonymous SNV	PMEL:NM_001200053:exon4:c.C701A:p.P234H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.926	D	0.173	N	0.999	N	1.15	L	3.02	T	-1.060	T	0.095	T	0.28	1.965	12.53	2.92	0.902	2.284	8.822	0.118	.	.	0.00399361	0.0027	0	0	0.0361	0	0	0	0.0002	0.0023415	362	154602	rs2071024	0.0009	0.0009	0.0010	0.0009	0.0318	0.0009	0.0009	0.0303	0.0297	0	0	0	0.0318	0	0.0002	7.256e-06	0.0011	9.531e-05	0.0012	0.0012	0.0010	0.0014	0.0351	0.0011	0.0010	0.0310	0.0294	0	0	6.536e-05	0	0.0351	0	0	4.41e-05	0.0005	0.0002	0.001	0.91255	D	0.008	0.74150	D	0.999	0.77913	D	0.926	0.66095	D	0.173493	0.17306	N	0.560093	0.999946	0.21555	N	2.215	0.62545	M	2.93	0.35219	T	-2.12	0.79060	N	0.3	0.33904	-1.0605	0.11632	T	0.095	0.35765	T	10	0.003482461	0.00062	T	.	.	.	0.118	0.32913	.	.	0.347879110917	0.34393	0.40577016809998806	0.40493	0.536416863823	0.50972	0.333448261023	0.15454	T	0.475532	0.80654	T	-0.47304	0.00814	T	-0.42013	0.31060	T	0.128894018528771	0.15279	T	0.759724	0.43505	T	0.11893563	0.28014	0.13421431	0.32165	0.11893563	0.28014	0.13421431	0.32164	-6.473	0.51160	T	.	.	0.105	0.32153	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.222462	0.28365	17.77	0.99047496663776746	0.51162	0.60907	0.31330	D	AEFDBCI	0.359562	0.44984	N	-0.0850162230394928	0.38050	2.222648	-0.1813636049679	0.32221	1.831067	0.960060252772709	0.28465	0.67177	0.52595	0	0.550933	0.16991	0	0.702456	0.68683	0	0.645665	0.59343	0	.	.	5.73	2.92	0.32998	1.099000	0.30625	.	.	-0.113000	0.14837	0.020000	0.19661	0.332000	0.24378	0.525000	0.29590	0.238:0.0:0.762:0.0	8.822	0.34191	724	0.55085	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1450.98	39	chr12	55957344	.	G	T	1450.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.421;DP=830;ExcessHet=0.0000;FS=2.357;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=0.772;SOR=0.970	GT:AD:DP:GQ:PL	0/1:63,56:119:99:1465,0,1585	20	0	1	0
chr12	55957979	55957979	C	T	exonic	PMEL	.	nonsynonymous SNV	PMEL:NM_001200053:exon3:c.G317A:p.R106Q	.	.	424	1090	8	0	0	8	0.00365631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	2.58	M	2.72	T	-0.889	T	0.125	T	0.592	4.618	25.2	3.79	1.578	5.241	12.611	0.167	0.0652782221712	7.7e-05	0.000199681	0.0001	9.647e-05	0.0002	0	0	0.0002	0	0	0.0001164	18	154602	rs145035997	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	0.0001	0.0001	0.0001	0	2.236e-05	0	0.0002	0	0.0005	0.0001	0.0002	1.159e-05	0.0001	0.0001	0.0001	9.397e-05	0.0002	7.085e-05	5.743e-05	0.0001	8.876e-05	0	0	0.0001	0	0	0	0	0.0002	0.0009	0	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.92359	D	0.000225	0.47286	D	0.000000	0.999999	0.81001	D	3.4	0.91674	M	2.68	0.12371	T	-3.37	0.68178	D	0.835	0.83066	-0.8895	0.48978	T	0.125	0.43008	T	10	0.28418022	0.46000	T	0.065278	0.69532	D	0.167	0.42761	.	.	0.480423546575	0.47670	0.7678465789982415	0.76733	0.608496289833	0.55620	0.425891876221	0.28647	T	0.891851	0.97809	D	-0.256949	0.13260	T	-0.306542	0.44030	T	0.460363361940641	0.31178	T	0.910909	0.68443	D	0.3089729	0.53697	0.20714337	0.44960	0.3089729	0.53697	0.20714337	0.44959	-8.851	0.66733	D	.	.	0.200	0.42419	B	.;.;.;.;.;.	.;.;.;.;.;.	4.606478	0.73013	25.9	0.99952666886942998	0.99957	0.94315	0.60775	D	AEFDBCI	0.911270	0.87031	D	0.640384151175964	0.75749	6.361097	0.546680438849553	0.71165	5.613715	0.999999356639955	0.74766	0.631515	0.41029	0	0.588066	0.40923	0	0.697927	0.64325	0	0.586402	0.36253	0	.	.	4.68	3.79	0.42757	5.525000	0.66826	.	.	-0.173000	0.11020	1.000000	0.71638	1.000000	0.68203	0.058000	0.15825	0.0:0.9169:0.0:0.0831	12.611	0.55906	724	0.55085	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1777.98	37	chr12	55957979	.	C	T	1777.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.31;DP=852;ExcessHet=0.0000;FS=2.848;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=1.36;SOR=0.835	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr12	55958556	55958556	G	C	exonic	PMEL	.	nonsynonymous SNV	PMEL:NM_001200053:exon2:c.C128G:p.A43G	.	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.007	B	0.006	B	0.862	N	0.988	N	1.39	L	3.1	T	-1.020	T	0.100	T	0.204	1.027	9.195	2.42	0.537	0.428	7.195	0.018	0.00731328894856	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1181457650	5.473e-06	5.472e-06	2.723e-06	8.251e-06	0.0002	2.35e-06	1.7e-06	1.583e-05	9.3e-06	0	0	0	0	0	0.0002	1.799e-06	1.656e-05	4.637e-05	6.573e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.635	0.39334	T	1.0	0.26226	T	0.007	0.14184	B	0.006	0.12133	B	0.861695	0.08890	N	0.928689	0.988476	0.24406	N	1.145	0.29067	L	3.08	0.31205	T	0.51	0.05503	N	0.259	0.29313	-1.0199	0.23747	T	0.100	0.37111	T	10	0.08825925	0.15179	T	0.007313	0.19388	T	0.022	0.04323	0.361	0.36548	0.168933306366	0.16529	0.2427703377315906	0.24191	0.124031979844	0.13968	0.249004453421	0.03663	T	0.201521	0.55942	T	-0.29951	0.08706	T	-0.571148	0.15343	T	0.0269314907491207	0.01535	T	0.687331	0.31558	T	0.02406896	0.01203	0.026415486	0.00730	0.02406896	0.01203	0.026415486	0.00730	-4.694	0.33331	T	.	.	0.092	0.23005	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	0.391356	0.07630	4.294	0.93924572792999983	0.23968	0.09288	0.15074	N	AEFBI	0.227403	0.35121	N	-0.277765492345397	0.30008	1.669338	-0.321258210852704	0.27413	1.520949	0.223343310385347	0.18381	0.719381	0.83141	0	0.588066	0.40923	0	0.723133	0.82415	0	0.616125	0.45549	0	.	.	4.31	2.42	0.28720	0.048000	0.13962	.	.	-0.153000	0.12021	0.000000	0.06391	0.699000	0.26222	0.173000	0.21076	0.0:0.3309:0.3901:0.2791	7.195	0.25023	724	0.55085	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	823.98	38	chr12	55958556	.	G	C	823.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.975;DP=756;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=-1.777e+00;SOR=0.641	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1575	20	0	1	0
chr12	56099893	56099893	A	G	exonic	ERBB3	.	nonsynonymous SNV	ERBB3:NM_001982:exon25:c.A2993G:p.K998R,	Lethal congenital contractural syndrome 2, Autosomal recessive	.	0	1515	7	0	0	7	0.00230491	.	.	1152507	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.44	T	0.217	B	0.054	B	0.000	D	1.000	D	0.805	L	-0.89	T	-0.686	T	0.262	T	0.455	1.210	9.912	5.65	2.371	4.907	13.874	0.304	0.0518680316758	0.0005	0.000798722	0.0009	9.645e-05	0.0011	0	0	0.0007	0.0033	0.0031	0.000815	126	154602	rs56259600	0.0007	0.0007	0.0005	0.0008	0.0034	0.0006	0.0006	0.0031	0.0029	5.974e-05	0.0007	0.0077	0	1.872e-05	0.0016	0.0003	0.0010	0.0034	0.0005	0.0005	0.0004	0.0006	0.0037	0.0004	0.0004	0.0024	0.0020	7.215e-05	0	0.0006	0.0058	0	0	0	0.0003	0.0019	0.0037	0.372	0.27544	T	0.559	0.15355	T	0.056	0.30183	B	0.012	0.25828	B	0.000001	0.84330	D	0.000000	0.980053	0.44011	D	0.95	0.23787	L	-1.06	0.78314	T	-0.32	0.21860	N	0.126	0.21969	-0.6856	0.61113	T	0.262	0.63318	T	10	0.0085273385	0.00193	T	0.051868	0.64837	D	0.304	0.62510	.	.	0.912343839665	0.91146	0.3882789713026239	0.38742	0.30347720499	0.32673	0.553100168705	0.46295	T	0.310143	0.68212	T	-0.306335	0.08075	T	-0.215856	0.53135	T	0.0523448675249759	0.05906	T	0.770723	0.41012	T	0.073698305	0.16485	0.09735545	0.23168	0.08790027	0.20487	0.11173457	0.26954	-1.753	0.02462	T	0.1009843138153394	0.07511	0.074	0.09094	B	.;.;.;.;.	.;.;.;.;.	2.853338	0.37674	20.6	0.98988493471227068	0.49882	0.94564	0.61576	D	AEFBI	0.732950	0.67954	D	-0.181417957628085	0.33908	1.929216	-0.0159103643218254	0.38995	2.305567	0.999992326220118	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.63947	0.58350	0	.	.	5.65	5.65	0.86881	3.034000	0.49441	9.338000	0.80191	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.026000	0.12556	1.0:0.0:0.0:0.0	13.874	0.63139	458	0.78890	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	4054.08	34	chr12	56099893	.	A	G	4054.08	.	AC=2;AF=0.048;AN=42;DP=829;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.48;SOR=0.870	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1372	20	1	0	0
chr12	56101239	56101239	G	A	exonic	ERBB3	.	nonsynonymous SNV	ERBB3:NM_001982:exon27:c.G3380A:p.R1127H,	Lethal congenital contractural syndrome 2, Autosomal recessive	.	1	1520	1	0	0	1	0.000328839	.	.	725197	ERBB3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.12	T	0.999	D	0.87	P	0.000	D	1.000	D	0.975	L	-1.28	T	-0.297	T	0.283	T	0.449	4.682	25.9	6.17	2.941	5.279	17.796	0.310	.	7.7e-05	0.00379393	0.0008	0	0	0.0084	0	1.499e-05	0.0044	0.0010	0.0008344	129	154602	rs2271188	0.0005	0.0005	0.0004	0.0005	0.0120	0.0005	0.0004	0.0111	0.0107	0	4.472e-05	0.0004	0.0120	0	0.0002	3.867e-05	0.0014	0.0010	0.0007	0.0007	0.0007	0.0007	0.0116	0.0006	0.0006	0.0093	0.0084	2.41e-05	0	0.0018	0.0006	0.0116	0	0	2.941e-05	0.0057	0.0008	0.029	0.47745	D	0.193	0.59732	T	0.991	0.77913	D	0.635	0.61806	P	0.000226	0.47286	D	0.083689	0.999999	0.81001	D	1.585	0.39878	L	-1.33	0.81478	T	-1.77	0.44852	N	0.174	0.19459	-0.2970	0.75068	T	0.283	0.65458	T	10	0.008962393	0.00203	T	.	.	.	0.310	0.63162	.	.	0.954619617015	0.95414	0.3019822743100278	0.30111	1.07145803725	0.76827	0.540646791458	0.44537	T	0.456335	0.79514	T	-0.271583	0.11581	T	-0.15776	0.58553	T	0.0913640494094828	0.11379	T	0.725127	0.34400	T	0.041431516	0.06099	0.04690981	0.06640	0.049809422	0.08902	0.059955698	0.11338	-4.541	0.31421	T	.	.	0.278	0.51139	B	.;.;.;.;.	.;.;.;.;.	3.676149	0.52298	23.2	0.99946294083735165	0.99901	0.95052	0.63263	D	AEFDBI	0.815670	0.73759	D	0.584381881694755	0.72200	5.768336	0.646551783260694	0.78353	6.859412	0.999999999999594	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.530356	0.10902	0	.	.	6.17	6.17	0.99707	5.510000	0.66737	7.615000	0.62066	-0.108000	0.15293	0.970000	0.34288	1.000000	0.68203	0.764000	0.36293	0.0:0.0:1.0:0.0	17.796	0.88482	462	0.78611	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2691.08	37	chr12	56101239	.	G	A	2691.08	.	AC=2;AF=0.048;AN=42;DP=969;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.29;SOR=0.892	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	1	0	0
chr12	56106718	56106718	-	AA	splicing	PA2G4	NM_006191:exon2:c.217+2->AA	.	.	.	.	12	180	28	5	1	39	0.0954774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0064	.	0.0014	0.0031	0.0003	0.0096	0.0002	0.0004	0.0028	0.0011	0.0002689	7	26028	rs34728522	0.0009	0.0013	0.0009	0.0009	0.0130	0.0009	0.0008	0.0120	0.0116	0.0040	0.0004	0.0006	0.0130	0.0003	0.0002	0.0003	0.0026	0.0011	0.0013	0.0014	0.0013	0.0013	0.0126	0.0011	0.0011	0.0101	0.0092	0.0016	0	0.0018	0.0006	0.0126	0	0	0.0002	0.0069	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	4355.8	33	chr12	56106718	.	T	TA,TAA	4355.8	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=1.16;DP=919;ExcessHet=0.0409;FS=3.717;InbreedingCoeff=0.2976;MLEAC=3,2;MLEAF=0.071,0.048;MQ=60.00;MQRankSum=0.00;QD=14.14;ReadPosRankSum=-9.390e-01;SOR=0.623	GT:AD:DP:GQ:PL	0/0:33,0,0:33:99:0,99,1224,99,1224,1224	17	0	3	0
chr12	56137228	56137228	T	G	exonic	ESYT1	.	nonsynonymous SNV	ESYT1:NM_001184796:exon17:c.T1823G:p.L608W	.	.	427	1088	7	0	0	7	0.0032066	.	.	3255973	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.997	D	0.027	N	1.000	D	2.275	M	-0.64	T	0.017	D	0.501	D	0.646	3.430	17.60	4.73	1.901	4.877	12.071	0.634	0.0966487206019	0.0003	0.000199681	0.0005	9.61e-05	0.0010	0	0	0.0006	0.0033	0.0003	0.0004269	66	154602	rs138187966	0.0004	0.0004	0.0004	0.0005	0.0007	0.0004	0.0004	0.0004	0.0004	5.974e-05	0.0006	0.0076	0	0	0.0007	0.0003	0.0009	0.0005	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	7.221e-05	0	0.0006	0.0058	0	0	0	0.0001	0.0014	0.0004	0.001	0.78490	D	0.001	0.83351	D	0.999	0.90584	D	0.995	0.86255	D	0.027403	0.25761	N	0.317042	0.99991	0.51042	D	2.93	0.84523	M	-0.64	0.72125	T	-4.38	0.77554	D	0.662	0.67132	0.017	0.82600	D	0.501	0.81159	D	10	0.027795404	0.00919	T	0.096649	0.76638	D	0.634	0.85975	.	.	0.768340348547	0.76621	0.5013327331732901	0.50055	.	.	0.609376311302	0.54227	T	0.297754	0.67034	T	-0.103351	0.35869	T	-0.0321995	0.68223	D	0.115094931676511	0.13943	T	0.756924	0.38041	T	0.29988173	0.52894	0.45229375	0.68138	0.29988173	0.52894	0.45229375	0.68139	-9.964	0.74449	D	.	.	0.177	0.38658	B	.;.	.;.	4.725393	0.76048	26.4	0.96195075138211927	0.29004	0.93350	0.57982	D	AEFBCI	0.757397	0.69636	D	0.619251109185778	0.74394	6.125138	0.554691810190109	0.71725	5.698712	0.999918882476281	0.45857	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.73	4.73	0.59485	4.865000	0.62695	6.161000	0.54342	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:0.0:0.0:1.0	12.071	0.52914	348	0.85549	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3390.08	35	chr12	56137228	.	T	G	3390.08	.	AC=2;AF=0.048;AN=42;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=34.59;SOR=1.863	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	1	0	0
chr12	56138934	56138934	C	G	exonic	ESYT1	.	nonsynonymous SNV	ESYT1:NM_001184796:exon24:c.C2543G:p.S848W	.	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.978	D	0.731	P	0.412	N	0.982	N	1.65	L	-0.51	T	-0.760	T	0.174	T	0.431	2.578	14.58	4.33	2.406	3.868	12.513	0.312	.	.	0.00359425	0.0006	0	0	0.0066	0	1.499e-05	0.0044	0.0010	0.0007374	114	154602	rs79083300	0.0005	0.0005	0.0004	0.0005	0.0112	0.0004	0.0004	0.0104	0.0100	0	4.472e-05	0.0004	0.0112	0	0	1.349e-05	0.0018	0.0010	0.0007	0.0007	0.0007	0.0006	0.0108	0.0006	0.0005	0.0085	0.0077	2.407e-05	0	0.0016	0.0006	0.0108	0	0	1.47e-05	0.0066	0.0008	0.176	0.22312	T	0.01	0.65728	D	0.975	0.58756	D	0.673	0.55321	P	0.412054	0.12984	N	0.751846	0.982091	0.24989	N	2.32	0.66415	M	-0.51	0.70597	T	-2.66	0.57599	D	0.406	0.45520	-0.7602	0.57394	T	0.174	0.51737	T	10	0.0057319105	0.00128	T	.	.	.	0.312	0.63375	.	.	0.589813230912	0.58657	0.37745737568756366	0.37660	.	.	0.394630670547	0.24320	T	0.101409	0.40814	T	-0.338752	0.05474	T	-0.255085	0.49313	T	0.0727380858391694	0.09031	T	0.860814	0.55431	D	0.14128143	0.32561	0.13400665	0.32120	0.14128143	0.32561	0.13400665	0.32120	-7.659	0.58722	D	.	.	0.152	0.35788	B	.;.	.;.	3.871253	0.56201	23.7	0.97447235962417456	0.34012	0.48036	0.28117	N	AEFDBIJ	0.410742	0.48150	N	0.0451563198937624	0.43918	2.675622	-0.0998740218848403	0.35396	2.047333	0.999999994145174	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.33	4.33	0.51083	3.909000	0.56076	4.882000	0.45676	0.541000	0.25215	0.101000	0.22814	0.825000	0.27162	0.097000	0.18139	0.0:1.0:0.0:0.0	12.513	0.55359	310	0.87484	C2 domain|C2 domain|C2 domain|Extended synaptotagmin, C2B domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3881.08	35	chr12	56138934	.	C	G	3881.08	.	AC=2;AF=0.048;AN=42;DP=816;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.34;SOR=0.950	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1291	20	1	0	0
chr12	56155190	56155190	A	G	exonic	MYL6B	.	nonsynonymous SNV	MYL6B:NM_001199629:exon4:c.A338G:p.K113R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.789	P	0.641	P	0.000	N	1.000	D	1.93	M	-1.31	T	-0.176	T	0.488	T	0.404	2.599	14.65	3.12	0.793	3.374	8.888	0.438	0.0486275299414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.26852	T	0.193	0.28860	T	0.434	0.35666	B	0.1	0.30674	B	0.000032	0.55875	N	0.155077	0.999587	0.47691	D	1.985	0.53793	M	-1.31	0.79666	T	-1.74	0.41239	N	0.273	0.31140	-0.1760	0.78281	T	0.488	0.80501	T	10	0.30700853	0.48207	T	0.048628	0.63456	D	0.438	0.74235	0.394	0.41935	0.81928443034	0.81758	0.4015392931818259	0.40069	0.127017458091	0.14312	0.515929877758	0.41053	T	0.143245	0.47927	T	0.0313461	0.55903	T	-0.19275	0.55332	T	0.790457010269165	0.45720	D	0.807619	0.47426	T	0.17981397	0.39071	0.17145996	0.39329	0.17981397	0.39070	0.17145996	0.39328	-6.936	0.53566	T	.	.	0.078	0.18456	B	.;.;.	.;.;.	3.603974	0.50915	23.0	0.99486892780881975	0.67235	0.93232	0.57670	D	AEFBI	0.734276	0.68046	D	0.103798677832372	0.46639	2.901251	0.121019812777228	0.45625	2.822404	0.999999315977184	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.28	3.12	0.34986	1.655000	0.36960	8.069000	0.76432	0.669000	0.69127	0.726000	0.28882	1.000000	0.68203	0.998000	0.85391	0.9077:0.0:0.0923:0.0	8.888	0.34573	253	0.90069	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	641.98	33	chr12	56155190	.	A	G	641.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.660e-01;DP=779;ExcessHet=0.0000;FS=5.787;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.73;ReadPosRankSum=0.594;SOR=1.263	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1133	20	0	1	0
chr12	56235615	56235615	C	A	exonic	SLC39A5	.	nonsynonymous SNV	SLC39A5:NM_001135195:exon6:c.C860A:p.P287Q	Myopia 24, autosomal dominant, Autosomal dominant	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.966	D	0.026	N	0.698	N	2.025	M	0.85	T	-0.682	T	0.225	T	0.653	1.787	11.93	2.81	1.146	1.621	7.228	0.192	0.0178559568225	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.31532	T	0.533	0.10000	T	0.999	0.77913	D	0.966	0.71341	D	0.026472	0.25914	N	0.268702	0.698111	0.30129	N	0.62	0.15745	N	0.85	0.47130	T	0.51	0.02898	N	0.366	0.40765	-0.6825	0.61257	T	0.225	0.58995	T	10	0.31561443	0.48990	T	0.017856	0.39721	T	0.192	0.47115	0.379	0.39482	0.344251166708	0.34027	0.3489428789333552	0.34808	0.52805192639	0.50397	0.513686656952	0.40738	T	0.011725	0.10420	T	-0.00890648	0.50418	T	-0.25057	0.49761	T	0.753664195537567	0.43490	D	0.645335	0.25688	T	0.0968051	0.22807	0.15862152	0.37034	0.0968051	0.22807	0.15862152	0.37033	-2.41	0.05195	T	.	.	0.158	0.34970	B	.;.	.;.	3.089653	0.41597	21.4	0.98311106651457536	0.40144	0.17217	0.19740	N	AEFBCI	0.729090	0.67691	D	0.136955250487026	0.48195	3.034887	-0.0333468911254258	0.38219	2.248603	3.42575098429386E-4	0.06626	0.421363	0.06395	0	0.550933	0.16991	0	0.514364	0.09456	0	0.727631	0.95156	0	.	.	3.7	2.81	0.31971	1.309000	0.33145	4.876000	0.45617	0.596000	0.33519	0.453000	0.26589	1.000000	0.68203	0.141000	0.19983	0.0:0.8798:0.0:0.1202	7.228	0.25203	438	0.80235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	952.98	38	chr12	56235615	.	C	A	952.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.94;DP=810;ExcessHet=0.0000;FS=3.454;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.89;ReadPosRankSum=-2.830e-01;SOR=0.876	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1074	20	0	1	0
chr12	56243225	56243225	C	T	exonic	ANKRD52	.	nonsynonymous SNV	ANKRD52:NM_173595:exon28:c.G3148A:p.G1050S,	.	.	.	.	.	.	.	.	.	.	.	3282268	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.009	B	0.001	B	0.028	N	0.956	D	0	N	0.02	T	-1.037	T	0.096	T	0.089	0.413	6.242	2.85	0.935	1.781	5.371	0.071	0.014647409114	.	.	9.178e-06	0	0	0	0	1.661e-05	0	0	3.84e-05	1	26028	rs769320051	6.706e-05	6.704e-05	8.17e-05	5.227e-05	8.005e-05	5.63e-05	5.173e-05	6.61e-05	6.141e-05	5.974e-05	0	0	0	0	0	8.005e-05	9.942e-05	1.16e-05	1.313e-05	1.968e-05	1.285e-05	1.342e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.206	0.19927	T	0.489	0.11586	T	0.009	0.15093	B	0.001	0.04355	B	0.028397	0.25609	N	0.317042	0.956447	0.37974	D	0	0.06538	N	0.02	0.62318	T	-0.34	0.12661	N	0.05	0.02179	-1.0366	0.18357	T	0.096	0.36055	T	10	0.08332524	0.13849	T	0.014647	0.34905	T	0.071	0.20720	0.514	0.61307	0.430026717358	0.42623	0.5175916014096361	0.51682	0.797753573997	0.66110	0.640124380589	0.58581	T	0.021874	0.16964	T	-0.306388	0.08070	T	-0.547431	0.17572	T	0.0512607172131538	0.05720	T	0.753225	0.37546	T	0.06323412	0.13294	0.062365495	0.12191	0.06323412	0.13293	0.062365495	0.12190	-2.997	0.10149	T	.	.	0.080	0.07841	B	.	.	3.714266	0.53042	23.3	0.94966115436978693	0.25888	0.96879	0.71436	D	AEFDBI	0.277251	0.39180	N	-0.699584636527989	0.16033	0.8133717	-0.567930265066695	0.20332	1.09492	0.999322752886197	0.39149	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	3.76	2.85	0.32333	1.500000	0.35290	7.648000	0.63548	0.596000	0.33519	0.943000	0.32764	1.000000	0.68203	0.986000	0.61781	0.0:0.6766:0.2107:0.1127	5.371	0.15438	447	0.79583	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1029.98	42	chr12	56243225	.	C	T	1029.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.304;DP=797;ExcessHet=0.0000;FS=1.723;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=0.731;SOR=0.917	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1246	20	0	1	0
chr12	56270210	56270210	G	C	exonic	COQ10A	.	nonsynonymous SNV	COQ10A:NM_001099337:exon5:c.G541C:p.V181L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.938	P	0.874	P	0.000	D	1.000	D	2.525	M	1.46	T	-0.801	T	0.192	T	0.71	4.920	28.4	4.96	2.746	9.249	17.517	0.217	0.010828468459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.04	0.50809	D	0.938	0.52538	P	0.874	0.62049	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.56	0.74772	M	1.43	0.32958	T	-2.21	0.49684	N	0.714	0.71676	-0.8007	0.55103	T	0.192	0.54492	T	10	0.727894	0.74097	D	0.010828	0.27810	T	0.217	0.51112	0.699	0.83592	0.512021964565	0.50844	0.6356950363655839	0.63503	0.864914079096	0.69159	0.823466300964	0.85559	D	0.127331	0.45429	T	0.0724855	0.61149	D	-0.133656	0.60664	T	0.911658483548394	0.56729	D	0.940206	0.77406	D	0.37227407	0.58753	0.34089497	0.59836	0.37227407	0.58753	0.34089497	0.59835	-9.143	0.68613	D	.	.	0.929	0.85176	P	.;.;.	.;.;.	4.982225	0.82536	27.8	0.9977931989567298	0.86606	0.99286	0.93967	D	AEFDBCI	0.915484	0.88032	D	0.823174144344843	0.87531	9.250757	0.800860528185597	0.89854	10.14908	0.999999999997406	0.74766	0.706548	0.73137	0	0.552637	0.17590	0	0.724815	0.87919	0	0.549297	0.17558	0	.	.	4.96	4.96	0.65153	9.910000	0.98672	11.833000	0.97585	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	17.517	0.87673	362	0.84826	Coenzyme Q-binding protein COQ10, START domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.06667	132.16	99	chr12	56270210	.	G	C	132.16	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-4.192e+00;DP=1937;ExcessHet=0.1072;FS=227.043;InbreedingCoeff=-0.1399;MLEAC=3;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=0.49;ReadPosRankSum=0.826;SOR=10.236	GT:AD:DP:GQ:PL	./.:92,0:92:0:0,0,1828	13	0	2	6
chr12	56315184	56315184	C	A	exonic	CNPY2	.	nonsynonymous SNV	CNPY2:NM_001190991:exon2:c.G34T:p.G12W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.929	P	0.473	P	0.184	N	0.863	N	-0.345	N	.	.	-1.100	T	0.050	T	0.558	3.449	17.68	4.18	1.520	1.696	11.788	0.157	0.00323979356799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.077	0.34095	T	0.189	0.28669	T	0.929	0.51690	P	0.175	0.35598	B	0.183792	0.17031	N	0.631849	0.863233	0.28323	N	0.345	0.11182	N	.	.	.	-0.72	0.31170	N	0.448	0.48596	-1.1004	0.04043	T	0.050	0.21104	T	9	0.22609055	0.39456	T	0.00324	0.07147	T	0.157	0.40909	0.415	0.45380	0.39619538035	0.39233	0.858144188404497	0.85777	0.535265842492	0.50902	0.710354208946	0.68645	T	0.038411	0.24828	T	-0.0180931	0.49124	T	-0.263766	0.48447	T	0.581660270690918	0.35682	D	0.771723	0.41194	T	0.13630119	0.31601	0.14374483	0.34151	0.13630119	0.31601	0.14374483	0.34150	-5.382	0.40746	T	.	.	0.385	0.58738	A	.;.;.;.;.	.;.;.;.;.	3.849898	0.55766	23.7	0.98230247081667055	0.39387	0.35066	0.25215	N	AEFDGBCI	0.596325	0.59054	D	-0.1127041375136	0.36839	2.134864	-0.0333034438575397	0.38221	2.248737	0.999999999207515	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.07	4.18	0.48473	1.805000	0.38520	7.687000	0.65600	0.599000	0.40250	0.790000	0.29595	1.000000	0.68203	0.995000	0.73285	0.0:0.9144:0.0:0.0856	11.788	0.51324	294	0.88270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1333.98	33	chr12	56315184	.	C	A	1333.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.167e+00;DP=838;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=-3.810e-01;SOR=0.644	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1162	20	0	1	0
chr12	56433425	56433425	C	A	exonic	TIMELESS	.	nonsynonymous SNV	TIMELESS:NM_001330295:exon5:c.G385T:p.A129S	.	.	430	1051	41	0	0	41	0.0191321	.	.	738762	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.41	T	0.229	B	0.174	B	0.012	N	0.855	N	0.64	N	0.91	T	-1.015	T	0.101	T	0.179	2.902	15.67	0.088	0.037	0.896	5.881	0.032	.	0.0046	0.00638978	0.0079	0.0009	0.0024	0	0.0086	0.0065	0.0066	0.0255	0.0075937	1174	154602	rs72478986	0.0069	0.0069	0.0061	0.0076	0.0258	0.0068	0.0067	0.0249	0.0245	0.0005	0.0034	0.0054	2.519e-05	0.0086	0.0154	0.0059	0.0065	0.0258	0.0057	0.0057	0.0054	0.0059	0.0241	0.0053	0.0052	0.0205	0.0192	0.0011	0.0187	0.0051	0.0058	0.0004	0.0085	0.0102	0.0070	0.0076	0.0241	0.072	0.35165	T	0.04	0.50809	D	0.229	0.30546	B	0.174	0.35540	B	0.012069	0.29301	N	0.349556	0.854854	0.28443	N	1.15	0.29295	L	0.91	0.44856	T	-1.17	0.29933	N	0.395	0.43610	-1.0154	0.25207	T	0.101	0.37518	T	10	0.005491823	0.00121	T	.	.	.	0.032	0.07718	.	.	0.323342291347	0.31936	0.1607800497811879	0.15999	0.171209344156	0.19289	0.346322804689	0.17378	T	0.102101	0.40949	T	-0.544533	0.00315	T	-0.535363	0.18754	T	0.0170223713933494	0.00451	T	0.873013	0.58094	D	0.0435973	0.06821	0.05841588	0.10790	0.0435973	0.06821	0.05841588	0.10790	-3.821	0.21119	T	.	.	0.111	0.21466	B	.;.	.;.	2.246897	0.28697	17.88	0.98645243699174356	0.44110	0.97081	0.72578	D	AEFBI	0.257301	0.37605	N	-0.411462268572135	0.25066	1.358009	-0.299378036005498	0.28119	1.56532	0.0742263954363048	0.15659	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.42	0.088	0.13762	0.926000	0.28405	0.126000	0.14982	0.599000	0.40250	0.562000	0.27441	0.685000	0.26142	0.998000	0.85391	0.0:0.3314:0.3729:0.2956	5.881	0.18101	147	0.94143	Timeless protein;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1451.98	35	chr12	56433425	.	C	A	1451.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.380e-01;DP=824;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.67;ReadPosRankSum=-7.270e-01;SOR=0.741	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1284	20	0	1	0
chr12	56716773	56716773	G	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.C4757G:p.T1586S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	B	0.014	B	.	.	1.000	N	.	.	0.86	T	-1.034	T	0.064	T	0.05	0.296	5.604	0.899	-0.131	1.411	4.156	0.039	0.00305659900259	.	.	9.816e-06	0	0	0	0	1.699e-05	0	0	6.5e-06	1	154602	rs767225318	1.64e-06	2.736e-06	1.602e-06	1.679e-06	2.057e-06	2.7e-07	1e-07	3.4e-07	1.3e-07	0	0	0	0	0	0	2.057e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.991	0.02359	T	0.068	0.23728	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	.	.	.	0.86	0.46777	T	0.5	0.02945	N	0.101	0.08366	-1.0337	0.19268	T	0.064	0.26420	T	7	0.065919876	0.08966	T	0.003057	0.06606	T	0.039	0.10176	0.258	0.20002	0.143124449307	0.13826	.	.	.	.	.	.	.	0.054013	0.29605	T	-0.338711	0.05478	T	-0.678114	0.07099	T	0.0160011250896684	0.00381	T	0.29797	0.05545	T	0.088434465	0.20628	0.04913326	0.07443	0.088434465	0.20628	0.04913326	0.07442	-6.613	0.51153	T	.	.	0.185	0.40065	B	.	.	0.222103	0.06044	2.485	0.22551627331878571	0.00912	0.30145	0.24006	N	AEFDBHCI	0.103815	0.20788	N	-0.895325869115206	0.10953	0.5260411	-0.976878655503586	0.10306	0.5182001	0.999970967611248	0.50053	0.729952	0.87565	0	0.585951	0.33947	0	0.536957	0.11973	0	0.636168	0.56350	0	.	.	3.89	0.899	0.18403	0.283000	0.18605	0.707000	0.20898	0.520000	0.23804	0.000000	0.06391	0.034000	0.21380	0.175000	0.21139	0.2912:0.0:0.546:0.1628	4.156	0.09728	45	0.97767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	801.6	63	chr12	56716773	.	G	C	801.6	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-3.814e+00;DP=1566;ExcessHet=6.1002;FS=143.092;InbreedingCoeff=-0.3330;MLEAC=10;MLEAF=0.238;MQ=60.00;MQRankSum=0.00;QD=1.05;ReadPosRankSum=0.671;SOR=10.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:78,0:78:67:.:.:0,67,1889	11	0	10	0
chr12	56716774	56716774	T	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.A4756G:p.T1586A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	B	0.006	B	.	.	1.000	N	.	.	0.87	T	-1.019	T	0.052	T	0.058	0.464	6.518	-1.65	0.024	-0.395	4.844	0.003	0.00228384647801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.672e-06	0.0001	1.634e-06	1.712e-06	2.097e-06	2.8e-07	1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.097e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.719	0.05363	T	0.01	0.15535	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	.	.	.	0.87	0.46412	T	0.47	0.03090	N	0.057	0.02861	-1.0187	0.24139	T	0.052	0.22269	T	7	0.052386343	0.05265	T	0.002284	0.04369	T	0.003	0.00094	0.231	0.15855	0.0551355673512	0.04727	.	.	.	.	.	.	.	0.05443	0.29723	T	-0.317768	0.07082	T	-0.694228	0.06147	T	0.0645078461183593	0.07859	T	0.325967	0.06723	T	0.04106803	0.05981	0.041717745	0.04806	0.04106803	0.05980	0.041717745	0.04805	-6.846	0.52900	T	.	.	0.134	0.29032	B	.	.	-0.114785	0.03555	0.684	0.19066523652983547	0.00627	0.13174	0.17706	N	AEFDBHCI	0.058886	0.11081	N	-1.18737061141861	0.05191	0.2360293	-1.27587405181014	0.04759	0.2252294	0.999971354431567	0.50053	0.729952	0.87565	0	0.585951	0.33947	0	0.536957	0.11973	0	0.636168	0.56350	0	.	.	3.89	-1.65	0.07849	-3.807000	0.00406	-0.245000	0.10556	0.514000	0.23422	0.000000	0.06391	0.019000	0.20708	0.178000	0.21234	0.1834:0.5085:0.0:0.3081	4.844	0.12867	45	0.97767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	83.5	65	chr12	56716774	.	T	C	83.5	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-9.180e-01;DP=1431;ExcessHet=0.6776;FS=89.750;InbreedingCoeff=-0.0938;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.28;ReadPosRankSum=0.466;SOR=8.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:47,0:47:99:.:.:0,100,1800	17	0	4	0
chr12	56720170	56720170	T	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001113203:exon3:c.A1360G:p.T454A	.	.	.	.	.	.	.	.	.	.	.	3324107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.004	B	0.003	B	.	.	1.000	N	0	N	1.07	T	-1.035	T	0.056	T	0.053	1.059	9.325	-1.47	-0.201	-2.158	3.906	0.011	0.005340095254	.	.	8.314e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs766398764	3.421e-06	3.42e-06	1.361e-06	5.501e-06	5.797e-05	1e-06	7.3e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	0	5.797e-05	1.316e-05	1.314e-05	1.286e-05	1.347e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.017	0.55530	D	0.137	0.33894	T	0.004	0.12183	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.79	0.49068	T	0.02	0.06739	N	0.047	0.01911	-1.0351	0.18825	T	0.056	0.23413	T	9	0.04221037	0.02949	T	0.00534	0.13679	T	0.011	0.01250	0.293	0.25560	0.0551355673512	0.04727	0.032722456671023734	0.03220	0.0203370685723	0.01996	0.250692397356	0.03841	T	0.073563	0.34727	T	-0.407531	0.02064	T	-0.726312	0.04497	T	0.0673094973138311	0.08269	T	0.184182	0.01901	T	0.03939044	0.05430	0.046045233	0.06331	0.03939044	0.05430	0.046045233	0.06330	-3.35	0.14391	T	.	.	0.074	0.05231	B	.;.	.;.	-0.957615	0.00834	0.028	0.43302007950133758	0.03251	0.01464	0.04890	N	AEFDBCI	0.021327	0.00937	N	-1.18996003326826	0.05152	0.2341474	-1.23190968094148	0.05405	0.25742	0.999929899416928	0.46280	0.489673	0.17934	0	0.516746	0.08562	0	0.759307	0.98198	0	0.491896	0.07777	0	.	.	3.44	-1.47	0.08312	-1.160000	0.03258	-7.492000	0.01145	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.191000	0.21631	0.0:0.464:0.2254:0.3106	3.906	0.08684	45	0.97767	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1027.98	63	chr12	56720170	.	T	C	1027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.26;DP=1348;ExcessHet=0.0000;FS=1.674;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=0.258;SOR=0.771	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,120,1800	20	0	1	0
chr12	56720329	56720329	C	T	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001113203:exon3:c.G1201A:p.V401I	.	.	431	1042	47	2	0	51	0.0238876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.027	B	0.006	B	.	.	1.000	N	0	N	0.86	T	-1.043	T	0.043	T	0.025	2.075	12.89	-0.785	-0.469	-0.275	6.608	0.017	.	0.0080	0.0071885	0.0085	0.0021	0.0026	0	0.0023	0.0087	0.0078	0.0227	0.0086157	1332	154602	rs149200196	0.0099	0.0100	0.0096	0.0103	0.0222	0.0098	0.0097	0.0214	0.0210	0.0022	0.0035	0.0047	7.557e-05	0.0022	0.0125	0.0105	0.0072	0.0222	0.0064	0.0064	0.0068	0.0061	0.0224	0.0061	0.0060	0.0190	0.0177	0.0019	0	0.0054	0.0037	0	0.0036	0.0170	0.0095	0.0047	0.0224	0.0	0.91255	D	0.284	0.25514	T	0.027	0.19556	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	0.69	0.51714	T	-0.28	0.14588	N	0.067	0.04913	-1.0433	0.16324	T	0.043	0.18659	T	9	0.0027790666	0.00044	T	.	.	.	0.017	0.02790	.	.	0.0846915920261	0.08053	0.026496213943266036	0.02599	0.0300485160316	0.03099	0.2774695158	0.07142	T	0.086986	0.37845	T	-0.631707	0.00093	T	-0.662594	0.08092	T	0.00737030575753901	0.00085	T	0.471053	0.13966	T	0.08163117	0.18766	0.08464307	0.19487	0.08163117	0.18765	0.08464307	0.19486	-4.015	0.24027	T	.	.	0.107	0.20078	B	.;.	.;.	-0.056359	0.03909	0.861	0.97167113773209157	0.32660	0.07237	0.13261	N	AEFBCI	0.030556	0.03100	N	-1.15211174013493	0.05746	0.2627286	-1.18914133857327	0.06090	0.2921035	0.999421206361269	0.39630	0.729952	0.87565	0	0.587265	0.34161	0	0.759307	0.98198	0	0.692231	0.68500	0	.	.	3.49	-0.785	0.10397	-0.252000	0.08825	-2.655000	0.03502	0.454000	0.21428	0.000000	0.06391	0.000000	0.08366	0.100000	0.18284	0.0:0.5255:0.0:0.4745	6.608	0.21930	45	0.97767	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1159.98	47	chr12	56720329	.	C	T	1159.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.572e+00;DP=1515;ExcessHet=0.0000;FS=5.312;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=-7.340e-01;SOR=0.333	GT:AD:DP:GQ:PL	0/0:79,0:79:99:0,120,1800	20	0	1	0
chr12	56721031	56721031	C	G	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001113203:exon3:c.G499C:p.A167P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.015	B	0.005	B	.	.	1.000	N	0	N	1.43	T	-1.022	T	0.032	T	0.129	1.221	9.954	-2.4	-0.681	-0.585	4.287	0.011	0.0122087104916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.192	0.28300	T	0.015	0.17086	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.43	0.32958	T	-0.53	0.16393	N	0.16	0.16725	-1.0224	0.22932	T	0.032	0.13942	T	9	0.062142044	0.07900	T	0.012209	0.30578	T	0.011	0.01250	0.227	0.15257	0.0666544352282	0.05500	0.13072603400018834	0.12997	0.0227308519102	0.02294	0.337338030338	0.16039	T	0.102353	0.40998	T	-0.270853	0.11661	T	-0.626838	0.10655	T	0.148695288746189	0.16999	T	0.518348	0.16810	T	0.18994507	0.40558	0.21309198	0.45805	0.18994507	0.40557	0.21309198	0.45804	-3.233	0.12888	T	.	.	0.162	0.35808	B	.;.	.;.	1.709626	0.21770	15.34	0.71801763015562914	0.09753	0.06540	0.12552	N	AEFDBHCIJ	0.087124	0.17666	N	-1.20560106798946	0.04917	0.2229764	-1.25410473190558	0.05071	0.2407426	0.9999604563335	0.48965	0.489673	0.17934	0	0.516746	0.08562	0	0.633826	0.45126	0	0.662433	0.64102	0	.	.	3.51	-2.4	0.06204	-0.433000	0.07017	-0.879000	0.07072	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.375000	0.26223	0.0:0.3501:0.1755:0.4744	4.287	0.10306	45	0.97767	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1486.98	47	chr12	56721031	.	C	G	1486.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.363e+00;DP=1023;ExcessHet=0.0000;FS=1.506;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.28;ReadPosRankSum=1.76;SOR=0.859	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1472	20	0	1	0
chr12	56739298	56739298	T	C	exonic	PRIM1	.	nonsynonymous SNV	PRIM1:NM_000946:exon10:c.A1048G:p.I350V,	.	.	440	1071	9	2	0	13	0.00603248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.001	B	0.007	B	0.000	D	1.000	D	0.395	N	1.09	T	-1.088	T	0.053	T	0.151	2.434	14.10	2.93	0.731	5.215	8.585	0.060	0.0059539928516	0.0004	.	0.0009	0	0.0010	0	0	0.0009	0.0024	0.0016	0.000401	62	154602	rs201583406	0.0003	0.0004	0.0003	0.0004	0.0032	0.0003	0.0003	0.0021	0.0017	3.052e-05	0.0001	0.0040	0	0	0.0032	0.0002	0.0008	0.0015	0.0003	0.0003	0.0003	0.0004	0.0004	0.0003	0.0002	0.0002	0.0002	2.405e-05	0	0.0002	0.0063	0	0	0	0.0003	0.0009	0.0004	0.086	0.39820	T	0.092	0.39954	T	0.001	0.07471	B	0.007	0.12992	B	0.000000	0.84330	D	0.000000	0.999968	0.52935	D	1.32	0.33002	L	1.09	0.39223	T	-0.76	0.21215	N	0.185	0.20129	-1.0877	0.05925	T	0.053	0.22307	T	10	0.009432167	0.00213	T	0.005954	0.15520	T	0.060	0.17295	.	.	0.336892272479	0.33291	0.28160541232501524	0.28073	0.323358209769	0.34506	0.508899211884	0.40067	T	0.002296	0.08679	T	-0.46843	0.00869	T	-0.470271	0.25488	T	0.0452666306562524	0.04650	T	0.763424	0.39166	T	0.24007037	0.46906	0.08327896	0.19073	0.24007037	0.46906	0.08327896	0.19073	-5.048	0.37357	T	.	.	0.107	0.25034	B	.;.	.;.	2.330624	0.29851	18.26	0.99119884377103118	0.52958	0.97970	0.78525	D	AEFBI	0.611154	0.59971	D	-0.445035459416136	0.23908	1.287257	-0.269884634788263	0.29096	1.627403	0.00570766438607379	0.11019	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.08	2.93	0.33092	5.111000	0.64468	2.191000	0.31208	-0.142000	0.12367	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0949:0.0:0.9051	8.585	0.32814	50	0.97644	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1408.98	33	chr12	56739298	.	T	C	1408.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.129;DP=842;ExcessHet=0.0000;FS=2.226;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.84;ReadPosRankSum=0.331;SOR=0.914	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1150	20	0	1	0
chr12	56952878	56952878	G	A	exonic	RDH16	.	nonsynonymous SNV	RDH16:NM_001320108:exon2:c.C250T:p.R84W	.	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.358	B	0.05	B	0.914	N	1.000	N	1.76	L	-3.18	D	-0.158	T	0.676	D	0.194	1.871	12.22	0.996	0.307	-0.570	7.500	0.154	0.0321018553652	0.0002	.	0.0002	0.0001	0	0	0	0.0003	0	0	0.0001423	22	154602	rs377404302	9.851e-05	9.85e-05	9.801e-05	9.901e-05	0.0001	8.511e-05	7.982e-05	0.0001	9.742e-05	2.987e-05	2.236e-05	0	0	1.872e-05	0	0.0001	9.936e-05	1.16e-05	7.89e-05	7.881e-05	7.712e-05	8.077e-05	0.0001	4.5e-05	3.514e-05	4.765e-05	3.339e-05	9.661e-05	0	0	0	0	9.436e-05	0	0.0001	0	0	0.019	0.50132	D	0.015	0.61642	D	0.358	0.33818	B	0.05	0.25278	B	0.914041	0.07433	N	1.046710	1	0.08975	N	2.495	0.72670	M	-3.18	0.93111	D	-4.2	0.75695	D	0.167	0.17691	-0.1576	0.78730	T	0.676	0.88785	D	10	0.11779037	0.22254	T	0.032102	0.54014	D	0.154	0.40340	.	.	0.503063991398	0.49945	0.4158062776802957	0.41496	0.102693065274	0.11620	0.182508260012	0.00119	T	0.327417	0.69793	T	-0.197828	0.21119	T	-0.242507	0.50553	T	0.124684862792492	0.14882	T	0.30207	0.05709	T	0.093017526	0.21837	0.13416284	0.32155	0.093017526	0.21836	0.13416284	0.32154	-6.21	0.48004	T	.	.	0.272	0.50563	B	.	.	2.169005	0.27642	17.53	0.97726613594556755	0.35591	0.19257	0.20590	N	AEFBI	0.575586	0.57792	D	-0.694107649700698	0.16188	0.8225668	-0.770994270563248	0.15207	0.798643	0.275106232036161	0.18932	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.17	0.996	0.18963	-0.185000	0.09679	-0.914000	0.06944	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0806:0.0:0.3752:0.5443	7.500	0.26680	469	0.78175	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1627.98	33	chr12	56952878	.	G	A	1627.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.79;DP=849;ExcessHet=0.0000;FS=6.330;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=-7.640e-01;SOR=1.197	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1216	20	0	1	0
chr12	56996414	56996414	C	T	exonic	GPR182	.	nonsynonymous SNV	GPR182:NM_007264:exon2:c.C1205T:p.T402I,	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.0	B	0.0	B	0.016	N	1.000	N	0	N	-0.52	T	-0.885	T	0.177	T	0.084	2.779	15.25	-1.99	-0.431	-1.439	10.206	0.165	0.0222974062105	.	.	.	.	.	.	.	.	.	.	.	.	.	rs903631848	6.302e-06	6.84e-06	4.157e-06	8.493e-06	.	2.97e-06	2.15e-06	.	.	0	0	0	0	0	0	0	0.0002	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	0.016174	0.01434	N	2.783590	1	0.08975	N	0.55	0.14455	N	-0.52	0.70717	T	-0.45	0.14782	N	0.019	0.00279	-0.8846	0.49390	T	0.177	0.52162	T	10	0.056494176	0.06342	T	0.022297	0.45174	T	0.165	0.42395	0.095	0.01241	0.0846915920261	0.08053	0.26468407470477723	0.26381	0.168275460022	0.18970	0.296970188618	0.09950	T	0.106487	0.41787	T	-0.188919	0.22416	T	-0.509145	0.21403	T	0.130950381949653	0.15470	T	0.322168	0.06550	T	0.054210622	0.10369	0.09005334	0.21094	0.054210622	0.10369	0.09005334	0.21093	-4.677	0.33125	T	.	.	0.070	0.03625	B	.	.	-0.459485	0.02000	0.177	0.99102771576196025	0.52521	0.01129	0.04108	N	AEFDBI	0.042253	0.06531	N	-1.34400790277307	0.03187	0.141967	-1.36463141615341	0.03636	0.1700315	0.998500962986076	0.37090	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.645665	0.59343	0	.	.	4.96	-1.99	0.07047	-1.292000	0.02880	-4.068000	0.02361	-0.278000	0.06506	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6057:0.0:0.3943	10.206	0.42290	152	0.94023	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	871.98	38	chr12	56996414	.	C	T	871.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.724e+00;DP=772;ExcessHet=0.0000;FS=1.910;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=-6.220e-01;SOR=0.945	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1412	20	0	1	0
chr12	57002801	57002801	G	A	exonic	ZBTB39	.	nonsynonymous SNV	ZBTB39:NM_014830:exon2:c.C2117T:p.A706V,	.	.	417	1100	5	0	0	5	0.00226757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.991	D	0.403	B	0.007	N	0.985	D	0	N	3.08	T	-0.895	T	0.016	T	0.431	3.345	17.26	5.44	2.549	7.344	16.761	0.156	0.00933289930028	0.0008	0.000998403	0.0007	0.0015	0.0006	0.0001	0	0.0008	0.0011	0.0004	0.0006662	103	154602	rs116414697	0.0004	0.0004	0.0004	0.0004	0.0104	0.0004	0.0004	0.0083	0.0075	0.0019	0.0004	0.0001	2.519e-05	0	0.0104	0.0003	0.0010	0.0003	0.0008	0.0008	0.0009	0.0007	0.0018	0.0007	0.0006	0.0015	0.0013	0.0018	0	0.0006	0	0	0	0.0068	0.0005	0.0005	0.0002	0.17	0.22833	T	0.178	0.29639	T	0.991	0.64070	D	0.403	0.44588	B	0.006645	0.31890	N	0.260319	0.984849	0.40201	D	0.345	0.11182	N	3.08	0.08460	T	-0.11	0.08653	N	0.071	0.04426	-0.8950	0.48483	T	0.016	0.06377	T	10	0.008271784	0.00188	T	0.009333	0.24483	T	0.156	0.40720	.	.	0.514811571519	0.51123	0.1858548726312891	0.18503	0.171660082868	0.19330	0.543152630329	0.44891	T	0.013812	0.11878	T	-0.460822	0.00972	T	-0.441979	0.28586	T	0.0425485443005567	0.04156	T	0.647535	0.25853	T	0.032245614	0.03213	0.053874213	0.09157	0.032245614	0.03212	0.053874213	0.09157	-4.067	0.24802	T	.	.	0.121	0.25166	B	.	.	3.486579	0.48718	22.7	0.99710074616565936	0.81283	0.99293	0.94067	D	AEFDBI	0.803577	0.72868	D	0.375915727508221	0.60120	4.197504	0.494142150245018	0.67602	5.105908	0.99999999999537	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.44	5.44	0.79348	6.749000	0.74678	7.623000	0.62394	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	16.761	0.85372	152	0.94023	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1747.98	33	chr12	57002801	.	G	A	1747.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=816;ExcessHet=0.0000;FS=8.884;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.81;ReadPosRankSum=-1.391e+00;SOR=1.473	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1222	20	0	1	0
chr12	57029472	57029472	C	G	exonic	MYO1A	.	nonsynonymous SNV	MYO1A:NM_005379:exon26:c.G2840C:p.S947T	.	.	0	1516	6	0	0	6	0.00197498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.088	B	0.141	B	0.001	N	0.824	N	0.725	N	1.27	T	-1.039	T	0.067	T	0.086	1.456	10.81	4.48	2.332	3.116	12.549	0.054	0.0101146993171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.473	0.08408	T	0.477	0.12002	T	0.088	0.25022	B	0.141	0.33616	B	0.001232	0.39743	N	0.268590	0.823901	0.28847	N	1.895	0.50365	L	1.27	0.36146	T	-0.57	0.17210	N	0.08	0.08786	-1.0388	0.17678	T	0.067	0.27606	T	10	0.18453875	0.33833	T	0.010115	0.26258	T	0.054	0.15330	0.52	0.62217	0.600640161457	0.59745	0.19503560817694282	0.19421	0.0875885386297	0.09886	0.429520696402	0.29143	T	0.043715	0.26588	T	-0.249365	0.14177	T	-0.595972	0.13152	T	0.456558078527451	0.31039	T	0.589941	0.21689	T	0.09005541	0.21061	0.09231017	0.21749	0.09005541	0.21061	0.09231017	0.21748	-6.043	0.46637	T	.	.	0.096	0.15966	B	.;.	.;.	2.452891	0.31584	18.79	0.9405711852819707	0.24189	0.74699	0.36548	D	AEFBI	0.240884	0.36259	N	-0.197272391548338	0.33247	1.884093	-0.0558277484201355	0.37240	2.177707	0.913341782270078	0.26420	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.48	4.48	0.53973	3.162000	0.50454	6.200000	0.54880	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.361000	0.25909	0.0:1.0:0.0:0.0	12.549	0.55567	174	0.93268	Class I myosin tail homology domain|Class I myosin tail homology domain;Class I myosin tail homology domain|Class I myosin tail homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1303.98	35	chr12	57029472	.	C	G	1303.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.997e+00;DP=826;ExcessHet=0.0000;FS=0.709;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=0.633;SOR=0.776	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1327	20	0	1	0
chr12	57037582	57037582	C	T	exonic	MYO1A	.	nonsynonymous SNV	MYO1A:NM_005379:exon19:c.G2021A:p.G674D	.	.	1	1508	12	1	0	14	0.00462046	.	.	228209	Autosomal_dominant_nonsyndromic_hearing_loss_48|MYO1A-related_disorder|not_provided	MONDO:MONDO:0011920,MedGen:C1842939,OMIM:607841,Orphanet:90635|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.58	H	-5.07	D	1.016	D	0.984	D	0.989	4.760	26.7	4.96	2.322	5.580	13.705	0.976	0.432915614909	0.0002	.	0.0005	9.754e-05	0.0010	0	0	0.0007	0.0011	0.0002	0.0004657	72	154602	rs148808080	0.0004	0.0004	0.0003	0.0004	0.0029	0.0003	0.0003	0.0019	0.0015	0.0002	0.0014	0.0055	0	1.872e-05	0.0029	0.0002	0.0009	0.0003	0.0005	0.0005	0.0005	0.0005	0.0013	0.0004	0.0004	0.0009	0.0007	0.0002	0	0.0013	0.0046	0	0	0.0034	0.0004	0.0019	0.0006	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.155	0.97600	H	-5.07	0.98648	D	-6.82	0.92980	D	0.787	0.78356	1.016	0.97455	D	0.984	0.99505	D	10	0.31688666	0.49104	T	0.432916	0.94017	D	0.976	0.99783	.	.	0.985288132568	0.98513	0.8676491767276238	0.86729	0.519325346913	0.49757	0.702072679996	0.67443	T	0.860453	0.96899	D	0.262072	0.79719	D	0.563138	0.95988	D	0.215399846460493	0.21232	T	0.884712	0.60854	D	0.90506554	0.91840	0.9547742	0.98681	0.90506554	0.91841	0.9547742	0.98681	-16.597	0.98526	D	.	.	0.987	0.92791	P	.;.	.;.	4.879209	0.80008	27.2	0.99851493737844987	0.93102	0.90256	0.51289	D	AEFDBCI	0.858398	0.77591	D	0.99006308134703	0.95430	13.61283	0.857070259153314	0.93423	12.03226	0.999999999928499	0.74766	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.96	4.96	0.65153	5.690000	0.67904	6.010000	0.52630	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	13.705	0.62115	174	0.93268	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.04762	3790.11	33	chr12	57037582	.	C	T	3790.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.920e-01;DP=950;ExcessHet=0.1072;FS=1.384;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.80;ReadPosRankSum=0.639;SOR=0.635	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1370	19	0	2	0
chr12	57038825	57038825	C	G	exonic	MYO1A	.	nonsynonymous SNV	MYO1A:NM_005379:exon16:c.G1517C:p.C506S	.	.	2	1519	1	0	0	1	0.000329056	.	.	175742	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.001	B	0.031	N	0.878	N	-0.195	N	-2.12	D	-0.917	T	0.151	T	0.135	0.556	7.007	1.63	0.628	2.675	3.468	0.136	.	0.0068	0.00698882	0.0023	0.0251	0.0013	0	0	8.998e-05	0.0011	0	0.0021798	337	154602	rs12297756	0.0008	0.0008	0.0009	0.0007	0.0258	0.0008	0.0007	0.0244	0.0238	0.0258	0.0019	0	0	0	0.0023	7.194e-05	0.0019	3.478e-05	0.0072	0.0073	0.0074	0.0071	0.0248	0.0069	0.0067	0.0236	0.0231	0.0248	0	0.0037	0	0	0	0	0.0001	0.0043	0	0.532	0.06980	T	0.832	0.03695	T	0.0	0.02946	B	0.001	0.04355	B	0.030546	0.25292	N	0.476082	0.878066	0.28097	N	-0.22	0.03977	N	-2.12	0.86283	D	1.04	0.01332	N	0.15	0.15328	-0.9174	0.45904	T	0.151	0.47856	T	10	0.010234833	0.00229	T	.	.	.	0.136	0.36778	0.255	0.19533	0.489449420884	0.48578	0.3032649497730437	0.30239	0.101136939111	0.11438	0.301036626101	0.10556	T	0.136732	0.46928	T	-0.454892	0.01056	T	-0.405925	0.32697	T	0.0146667717473445	0.00304	T	0.455954	0.13062	T	0.06334935	0.13328	0.06861667	0.14354	0.06334935	0.13328	0.06861667	0.14353	-4.224	0.27098	T	.	.	0.088	0.11461	B	.;.	.;.	2.208800	0.28174	17.71	0.68527948880035428	0.08686	0.86838	0.46208	D	AEFDBHCI	0.788416	0.71791	D	-0.557411809030811	0.20252	1.066243	-0.367711753094956	0.25967	1.431284	0.999414346444368	0.39577	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.55	1.63	0.22882	2.820000	0.47757	0.602000	0.19937	0.599000	0.40250	1.000000	0.71638	0.701000	0.26233	0.999000	0.91618	0.0:0.5073:0.2012:0.2915	3.468	0.07122	174	0.93268	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1858.98	158	chr12	57038825	.	C	G	1858.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.060e-01;DP=885;ExcessHet=0.0000;FS=1.979;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=0.527;SOR=0.871	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1282	20	0	1	0
chr12	57044140	57044140	C	A	exonic	MYO1A	.	nonsynonymous SNV	MYO1A:NM_005379:exon9:c.G710T:p.G237V	.	.	0	1518	4	0	0	4	0.00131579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	3.035	M	-2.46	D	0.831	D	0.834	D	0.626	3.023	16.09	4.81	2.654	2.779	13.578	0.641	0.1354818905	.	0.000399361	0.0005	0	0	0	0	1.498e-05	0.0011	0.0036	0.0004075	63	154602	rs560195758	0.0002	0.0002	0.0001	0.0003	0.0035	0.0002	0.0002	0.0031	0.0030	0	6.708e-05	0	2.519e-05	0	0	4.496e-06	0.0002	0.0035	9.192e-05	9.186e-05	1.285e-05	0.0002	0.0029	5.524e-05	4.361e-05	0.0018	0.0014	0	0	0	0	0	0	0	0	0	0.0029	0.005	0.63226	D	0.031	0.53788	D	1.0	0.90584	D	1.0	0.97372	D	0.000184	0.48115	D	0.174340	1	0.81001	D	2.865	0.83145	M	-2.46	0.88924	D	-3.65	0.69950	D	0.658	0.66787	0.831	0.94797	D	0.834	0.94429	D	10	0.108454645	0.20189	T	0.135482	0.81794	D	0.641	0.86333	0.715	0.85051	0.918274983411	0.91745	0.6861370824405457	0.68553	0.386541254398	0.39939	0.437900453806	0.30291	T	0.736438	0.92664	D	-0.148664	0.28520	T	0.0112561	0.71063	D	0.20370182979876	0.20618	T	0.758124	0.38180	T	0.5532322	0.70136	0.47304904	0.69454	0.5532322	0.70137	0.47304904	0.69455	-10.299	0.75682	D	.	.	0.152	0.33573	B	.;.	.;.	3.302575	0.45341	22.1	0.99762685991083577	0.85172	0.94239	0.60538	D	AEFGBI	0.628709	0.61069	D	0.647120448111958	0.76184	6.439575	0.534174003780549	0.70306	5.485601	0.999802481960567	0.43304	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.81	4.81	0.61401	2.999000	0.49161	1.439000	0.26511	0.599000	0.40250	0.974000	0.34632	0.277000	0.24084	0.034000	0.13613	0.0:1.0:0.0:0.0	13.578	0.61350	180	0.92993	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1370.98	37	chr12	57044140	.	C	A	1370.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.050e-01;DP=776;ExcessHet=0.0000;FS=0.877;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.32;ReadPosRankSum=0.898;SOR=0.555	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1477	20	0	1	0
chr12	57191498	57191498	A	G	exonic	LRP1	.	nonsynonymous SNV	LRP1:NM_002332:exon44:c.A7415G:p.N2472S,	.	.	1	1497	22	2	0	26	0.00860927	.	.	725209	not_provided|LRP1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.84	T	0.39	B	0.079	B	0.012	N	1.000	D	1.13	L	-2.2	D	-0.379	T	0.415	T	0.082	3.267	16.96	4.61	1.964	7.285	13.226	0.296	0.0145036396415	0.0004	0.000798722	0.0011	9.934e-05	0.0004	0	0	0.0009	0.0012	0.0047	0.0009896	153	154602	rs148875245	0.0009	0.0009	0.0007	0.0011	0.0051	0.0009	0.0008	0.0047	0.0045	3.014e-05	0.0009	0.0078	0	5.794e-05	0.0032	0.0005	0.0013	0.0051	0.0006	0.0006	0.0006	0.0007	0.0043	0.0005	0.0005	0.0029	0.0024	4.827e-05	0	0.0003	0.0066	0	0	0	0.0006	0.0019	0.0043	0.064	0.36509	T	0.024	0.56640	D	0.39	0.34593	B	0.079	0.28749	B	0.011613	0.29466	N	0.296074	0.575951	0.32334	D	1.14	0.29013	L	-2.2	0.86888	D	-2.97	0.61865	D	0.35	0.39153	-0.3790	0.72682	T	0.415	0.76225	T	10	0.00943622	0.00213	T	0.014504	0.34657	T	0.296	0.61616	.	.	0.603881636218	0.60071	0.8255709546629177	0.82515	.	.	0.574706077576	0.49341	T	0.375927	0.73943	T	-0.370062	0.03590	T	-0.304489	0.44249	T	0.109408480028388	0.13362	T	0.854615	0.54143	D	0.14265086	0.32819	0.14545806	0.34496	0.14265086	0.32819	0.14545806	0.34495	-11.797	0.83848	D	.	.	0.099	0.16756	B	.	.	3.165364	0.42900	21.6	0.99599567704825898	0.74101	0.98319	0.81588	D	AEFDGBCI	0.903463	0.85257	D	-0.0507444552238111	0.39568	2.335548	0.0979207483431564	0.44445	2.72607	0.999999999083161	0.74766	0.722319	0.85440	0	0.593476	0.48661	0	0.698795	0.65105	0	0.622129	0.49086	0	.	.	4.61	4.61	0.56724	7.462000	0.79890	11.260000	0.91045	0.734000	0.85920	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	1.0:0.0:0.0:0.0	13.226	0.59339	345	0.85689	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2297.98	39	chr12	57191498	.	A	G	2297.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.781;DP=1076;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.99;ReadPosRankSum=-9.120e-01;SOR=0.684	GT:AD:DP:GQ:PL	0/1:132,98:230:99:2312,0,3316	20	0	1	0
chr12	57201511	57201511	G	A	exonic	LRP1	.	nonsynonymous SNV	LRP1:NM_002332:exon66:c.G10360A:p.A3454T,	.	.	.	.	.	.	.	.	.	.	.	3280671	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.57	T	1.0	D	0.997	D	0.000	D	1.000	D	-0.135	N	-3.74	D	0.504	D	0.799	D	0.717	3.862	19.62	4.94	2.742	5.534	17.521	0.560	0.0468764417643	7.7e-05	.	8.337e-06	0	0	0.0001	0	0	0	0	1.29e-05	2	154602	rs149436792	1.643e-05	1.71e-05	1.498e-05	1.789e-05	5.04e-05	1.111e-05	9.34e-06	1.583e-05	9.3e-06	0	0	0	5.04e-05	1.875e-05	0	1.53e-05	0	4.64e-05	6.577e-06	6.568e-06	0	1.347e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.15	0.24661	T	0.052	0.47581	T	1.0	0.90584	D	0.997	0.86255	D	0.000002	0.62929	D	0.000000	0.999745	0.48716	D	-0.305	0.03614	N	-3.74	0.95493	D	-0.97	0.28290	N	0.531	0.55972	0.504	0.90601	D	0.799	0.93188	D	10	0.40255806	0.55669	T	0.046876	0.62662	D	0.560	0.81946	.	.	0.652284888051	0.64938	0.4110444192152973	0.41020	.	.	0.806900143623	0.83016	D	0.291463	0.66422	T	0.138716	0.68203	D	0.130607	0.78932	D	0.779906514477687	0.45044	D	0.843516	0.69499	T	0.17156796	0.37798	0.17252937	0.39515	0.17156796	0.37798	0.17252937	0.39514	-9.533	0.71064	D	.	.	0.245	0.47986	B	.;.	.;.	4.798850	0.77957	26.8	0.99842370944874415	0.92229	0.87342	0.46852	D	AEFDBHCI	0.772349	0.70669	D	0.390259005466443	0.60895	4.28351	0.460653317728457	0.65404	4.819485	0.999999999999406	0.74766	0.67177	0.52595	0	0.486142	0.07564	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	4.94	4.94	0.64645	3.420000	0.52493	9.850000	0.81982	0.672000	0.70159	0.998000	0.41325	1.000000	0.68203	0.974000	0.55675	0.0:0.0:1.0:0.0	17.521	0.87683	356	0.85138	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	973.98	83	chr12	57201511	.	G	A	973.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.770e-01;DP=786;ExcessHet=0.0000;FS=0.832;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.73;ReadPosRankSum=0.155;SOR=0.558	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr12	57233235	57233235	C	T	exonic	SHMT2	.	nonsynonymous SNV	SHMT2:NM_001166356:exon8:c.C883T:p.R295W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.935	D	0.035	N	0.630	N	0	N	0.8	T	-0.759	T	0.129	T	0.338	4.346	22.9	0.505	0.298	1.063	13.699	0.021	0.0272557921045	.	.	1.722e-05	0	8.673e-05	0	0	1.53e-05	0	0	2.59e-05	4	154602	rs530949491	9.835e-05	9.919e-05	9.706e-05	9.965e-05	0.0001	8.489e-05	7.964e-05	0.0001	0.0001	0	0	0	0	0	0	0.0001	4.996e-05	1.17e-05	5.252e-05	5.249e-05	2.569e-05	8.055e-05	0.0001	2.555e-05	1.829e-05	4.764e-05	3.339e-05	2.407e-05	0	0	0	0	0	0	0.0001	0	0	0.0	0.91255	D	0.001	0.83351	D	0.961	0.55431	D	0.606	0.50970	P	0.034871	0.24715	N	0.417011	0.912059	0.30708	N	1.04	0.26193	L	0.8	0.48769	T	-4.07	0.76576	D	0.43	0.47949	-0.7590	0.57460	T	0.129	0.43747	T	10	0.24179327	0.41364	T	0.027256	0.50089	D	0.132	0.35948	.	.	0.701246472698	0.69865	0.5992475148722353	0.59855	1.10936446881	0.78000	0.246727496386	0.03431	T	0.305163	0.67742	T	-0.226046	0.17175	T	-0.375938	0.36197	T	0.512637555599213	0.33094	D	0.983202	0.94423	D	0.4618836	0.64788	0.42574236	0.66374	0.4618836	0.64788	0.42574236	0.66374	-12.074	0.86713	D	.	.	0.180	0.43213	B	.;.;.;.;.;.	.;.;.;.;.;.	4.648230	0.74066	26.1	0.9990940943528942	0.97949	0.89876	0.50631	D	AEFBCI	0.910904	0.86944	D	-0.178582659010347	0.34027	1.937354	-0.220685494698068	0.30794	1.737038	0.99982969567254	0.43622	0.722319	0.85440	0	0.697927	0.68747	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	4.82	0.505	0.16157	1.184000	0.31663	2.720000	0.34304	0.599000	0.40250	0.007000	0.17678	0.981000	0.30433	0.998000	0.85391	0.7087:0.2913:0.0:0.0	13.699	0.62076	405	0.82444	Serine hydroxymethyltransferase-like domain;.;Serine hydroxymethyltransferase-like domain;Serine hydroxymethyltransferase-like domain;Serine hydroxymethyltransferase-like domain;Serine hydroxymethyltransferase-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2225.98	37	chr12	57233235	.	C	T	2225.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=865;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.25;ReadPosRankSum=-1.409e+00;SOR=0.717	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1351	20	0	1	0
chr12	57248777	57248777	T	G	exonic	STAC3	.	nonsynonymous SNV	STAC3:NM_001286256:exon3:c.A244C:p.K82Q	Native American myopathy, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.999	D	0.995	D	0.000	D	1.000	D	0.905	L	-3.06	D	0.616	D	0.774	D	0.599	4.647	25.5	5.36	2.162	7.501	14.649	0.702	0.14058696165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.51853	T	0.0	0.92824	D	0.999	0.77913	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	0.92	0.23413	L	-3.06	0.92457	D	-2.72	0.62863	D	0.834	0.83987	0.616	0.92110	D	0.774	0.92328	D	10	0.80040896	0.79451	D	0.140587	0.82303	D	0.702	0.89284	0.54	0.65161	0.925050646364	0.92428	0.5537554533640751	0.55301	1.1118641095	0.78077	0.806766986847	0.82996	D	0.660406	0.89802	D	0.170275	0.71148	D	0.0068112	0.70777	D	0.993096649646759	0.83765	D	0.943606	0.82627	D	0.4729091	0.65469	0.32240853	0.58181	0.4729091	0.65469	0.32240853	0.58180	-9.73	0.72279	D	0.7634066317134691	0.84504	0.755	0.76663	P	.;.;.	.;.;.	5.053894	0.84195	28.2	0.99439451316203675	0.64670	0.97612	0.75899	D	AEFDGBI	0.922780	0.89826	D	0.614339985880794	0.74080	6.072432	0.64344319907182	0.78123	6.813446	0.999999999996329	0.74766	0.562547	0.31514	0	0.581341	0.33841	0	0.608884	0.39905	0	0.586402	0.36253	0	.	.	5.36	5.36	0.76624	7.475000	0.80038	7.880000	0.72453	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	14.649	0.68385	460	0.78750	.;Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain;Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1732.98	36	chr12	57248777	.	T	G	1732.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.865;DP=832;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.65;ReadPosRankSum=0.920;SOR=0.749	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1292	20	0	1	0
chr12	57466282	57466282	G	A	exonic	GLI1	.	nonsynonymous SNV	GLI1:NM_001160045:exon6:c.G421A:p.V141M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.912	D	0.001	D	1.000	D	3.125	M	-3.29	D	1.016	D	0.894	D	0.523	3.180	16.64	4.03	2.247	9.561	15.483	0.690	0.389102162449	.	.	0.0001	0	0	0	0	0	0	0.0008	8.41e-05	13	154602	rs758378363	5.131e-05	5.13e-05	3.131e-05	7.151e-05	0.0008	4.192e-05	3.824e-05	0.0006	0.0006	0	0	0	2.519e-05	0	0	4.497e-06	6.624e-05	0.0008	1.972e-05	1.97e-05	0	4.035e-05	0.0006	5.24e-06	2.45e-06	0.0002	9e-05	0	0	0	0	0	0	0	0	0	0.0006	0.0	0.91255	D	0.002	0.92824	D	0.999	0.77913	D	0.912	0.64797	D	0.000699	0.42383	D	0.000000	0.999999	0.58761	D	2.63	0.76995	M	-3.29	0.93740	D	-2.99	0.62151	D	0.584	0.68429	1.016	0.97464	D	0.894	0.96498	D	10	0.5605143	0.64761	D	0.389102	0.93147	D	0.690	0.88726	.	.	0.953943295139	0.95345	0.3686905148116702	0.36783	0.702873162905	0.61236	0.811972856522	0.83795	D	0.838304	0.96206	D	-0.0447745	0.45238	T	0.0901035	0.76254	D	0.524071276187897	0.33515	D	0.982802	0.96238	D	0.60063523	0.72725	0.4811052	0.69951	0.60063523	0.72726	0.4811052	0.69952	-9.422	0.70373	D	.	.	0.907	0.83217	P	.;.;.;.;.	.;.;.;.;.	4.677190	0.74812	26.2	0.99872480830722199	0.94989	0.98483	0.83254	D	AEFBI	0.943360	0.94912	D	0.722645689235138	0.81118	7.447723	0.581243044712389	0.73597	5.996359	0.999999999999595	0.74766	0.634777	0.41761	0	0.550933	0.16991	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	4.03	4.03	0.46115	9.968000	0.99102	11.494000	0.92938	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	15.483	0.75275	287	0.88635	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1704.98	35	chr12	57466282	.	G	A	1704.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=921;ExcessHet=0.0000;FS=1.234;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.40;ReadPosRankSum=-3.600e-02;SOR=0.834	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1462	20	0	1	0
chr12	57470538	57470538	G	T	exonic	GLI1	.	nonsynonymous SNV	GLI1:NM_001160045:exon10:c.G1414T:p.G472C	.	.	410	1109	3	0	0	3	0.00135074	.	.	2807141	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.958	D	0.65	P	0.006	N	0.998	D	2.03	M	2.47	T	-1.124	T	0.058	T	0.445	2.398	13.98	0.809	0.158	2.744	7.992	0.094	0.0143965354228	0.0002	.	0.0002	0	0	0	0	0.0002	0	0.0007	0.0001552	24	154602	rs147997893	0.0002	0.0002	0.0002	0.0002	0.0029	0.0002	0.0002	0.0019	0.0015	5.974e-05	0.0001	0.0001	0	0	0.0029	0.0001	0.0004	0.0012	9.849e-05	9.842e-05	0.0001	9.4e-05	0.0015	6.002e-05	4.877e-05	0.0007	0.0005	0	0	0	0	0	0	0	0.0001	0.0005	0.0015	0.076	0.34444	T	0.0	0.92824	D	0.958	0.54977	D	0.65	0.52463	P	0.005569	0.32687	N	0.142164	0.998185	0.44603	D	2.38	0.68558	M	2.47	0.17113	T	-0.49	0.15578	N	0.325	0.50598	-1.1243	0.02076	T	0.058	0.24354	T	10	0.08785421	0.15072	T	0.014397	0.34491	T	0.094	0.27141	.	.	0.722556352178	0.72010	0.5580015452753192	0.55727	0.615137335204	0.56008	0.450512886047	0.32014	T	0.304046	0.67637	T	-0.396646	0.02435	T	-0.436445	0.29207	T	0.0772494739264863	0.09632	T	0.758124	0.38180	T	0.09727431	0.22928	0.051586293	0.08332	0.09727431	0.22927	0.051586293	0.08332	-5.923	0.46204	T	.	.	0.204	0.42990	B	.;.;.;.	.;.;.;.	2.787093	0.36630	20.3	0.99058018210034415	0.51413	0.89532	0.50056	D	AEFBCI	0.743672	0.68690	D	0.176852524998245	0.50089	3.202346	0.0908153817108833	0.44084	2.697146	0.997105511054301	0.35279	0.744818	0.98587	0	0.379588	0.06130	0	0.732433	0.93434	0	0.616125	0.45549	0	.	.	3.86	0.809	0.17866	0.443000	0.21360	2.378000	0.32469	0.618000	0.50648	0.999000	0.42656	0.984000	0.30665	0.663000	0.33052	0.2931:0.0:0.7069:0.0	7.992	0.29409	305	0.87738	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1427.98	34	chr12	57470538	.	G	T	1427.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=799;ExcessHet=0.0000;FS=2.496;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=0.281;SOR=0.606	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1155	20	0	1	0
chr12	57470641	57470641	G	T	exonic	GLI1	.	nonsynonymous SNV	GLI1:NM_001160045:exon10:c.G1517T:p.G506V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.982	D	0.006	N	1.000	D	1.585	L	2.46	T	-1.054	T	0.096	T	0.726	3.265	16.96	4.39	2.436	3.107	16.266	0.184	0.0332047134588	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.013	0.63109	D	1.0	0.90584	D	0.982	0.75477	D	0.005878	0.32444	N	0.143240	1	0.81001	D	2.24	0.63355	M	2.46	0.15376	T	-1.58	0.38151	N	0.597	0.70790	-1.0538	0.13359	T	0.096	0.36107	T	10	0.41008478	0.56164	T	0.033205	0.54819	D	0.184	0.45763	0.358	0.36060	0.761260364834	0.75908	0.5046328101010428	0.50385	0.791260976505	0.65798	0.446223497391	0.31428	T	0.455937	0.79490	T	0.0188324	0.54224	T	-0.210725	0.53627	T	0.952138006687164	0.63721	D	0.838916	0.51702	T	0.38305467	0.59537	0.43017244	0.66676	0.38305467	0.59537	0.43017244	0.66676	-4.868	0.35373	T	.	.	0.369	0.57787	A	.;.;.;.	.;.;.;.	3.680665	0.52392	23.2	0.9973499383439981	0.83047	0.88651	0.48680	D	AEFDBHCI	0.785919	0.71616	D	0.51059804873595	0.67715	5.118769	0.466407082320571	0.65777	4.866875	0.999999991191862	0.74766	0.744818	0.98587	0	0.379588	0.06130	0	0.732433	0.93434	0	0.530356	0.10902	0	.	.	4.39	4.39	0.52211	0.971000	0.28993	9.666000	0.81207	0.618000	0.50648	0.610000	0.27830	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	16.266	0.82404	306	0.87689	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1673.98	34	chr12	57470641	.	G	T	1673.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.311;DP=813;ExcessHet=0.0000;FS=0.771;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.74;ReadPosRankSum=0.155;SOR=0.837	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1155	20	0	1	0
chr12	57477464	57477464	C	T	exonic	ARHGAP9	.	nonsynonymous SNV	ARHGAP9:NM_001080156:exon2:c.G199A:p.E67K	.	.	405	1116	0	1	0	2	0.000895255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.814	P	0.122	B	0.976	N	0.999	N	1.5	L	3.17	T	-1.063	T	0.073	T	0.22	0.207	5.116	2.39	0.955	1.156	8.648	0.037	0.00596829974901	0.0002	0.000399361	0.0003	0.0006	0.0004	0	0	0.0003	0.0011	0	0.0002846	44	154602	rs139873901	0.0003	0.0003	0.0003	0.0003	0.0007	0.0003	0.0002	0.0005	0.0004	0.0007	0.0004	0.0001	5.038e-05	1.872e-05	0.0003	0.0003	0.0004	0	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	0.0002	0	0.0008	0	0	0.0002	0	0.0002	0.0005	0	0.293	0.38633	T	0.404	0.92824	T	0.021	0.18474	B	0.016	0.17743	B	0.976006	0.07810	N	1.011940	1	0.08975	N	2.14	0.59869	M	3.17	0.44461	T	-0.17	0.15986	N	0.296	0.34012	-1.0627	0.11093	T	0.073	0.29451	T	10	0.024040341	0.00648	T	0.005968	0.15579	T	0.037	0.09474	.	.	0.528662862717	0.52513	0.27551844983981943	0.27464	0.0564118290623	0.06233	0.366003274918	0.20257	T	0.016171	0.16617	T	-0.46538	0.00909	T	-0.563532	0.16046	T	0.00855027854842096	0.00104	T	0.589341	0.26349	T	.	.	.	.	.	.	.	.	-3.317	0.29786	T	.	.	0.087	0.14888	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.312178	0.17156	12.99	0.71122612660607376	0.09522	0.24554	0.22429	N	AEFDGBCI	0.271515	0.38735	N	-0.935542860350486	0.10020	0.4768564	-0.996415549027231	0.09865	0.4933518	0.999995865308881	0.74766	0.582742	0.33608	0	0.52208	0.09955	0	0.61531	0.40942	0	0.530356	0.10902	0	.	.	3.29	2.39	0.28492	1.344000	0.33547	-1.064000	0.06442	-0.848000	0.02741	0.057000	0.21666	0.000000	0.08366	0.000000	0.00833	0.0:0.7654:0.2346:0.0	8.648	0.33180	325	0.86759	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1144.98	48	chr12	57477464	.	C	T	1144.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.06;DP=855;ExcessHet=0.0000;FS=8.118;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.90;ReadPosRankSum=0.028;SOR=0.976	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,104,1256	20	0	1	0
chr12	57533300	57533300	C	T	exonic	DCTN2	.	nonsynonymous SNV	DCTN2:NM_001261412:exon8:c.G679A:p.A227T	.	.	430	1089	3	0	0	3	0.00137552	.	.	1693597	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.33	T	1.0	D	0.99	D	0.000	D	1.000	D	2.255	M	.	.	-0.381	T	0.422	T	0.487	4.760	26.7	5.05	2.800	4.466	17.710	0.567	0.00551967512263	0.0002	.	0.0003	0	0	0.0001	0	0.0004	0	0.0010	0.0003169	49	154602	rs200168725	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0008	0.0008	2.987e-05	6.708e-05	0	0.0003	3.746e-05	0.0007	0.0002	0.0002	0.0010	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	8.715e-05	0.0002	0.0002	2.408e-05	0	0	0	0	0	0	0.0003	0	0.0004	0.002	0.72154	D	0.008	0.67890	D	1.0	0.90584	D	0.99	0.78936	D	0.000004	0.62929	D	0.103032	1	0.81001	D	1.62	0.41497	L	.	.	.	-3.25	0.65512	D	0.574	0.64733	-0.3807	0.72629	T	0.422	0.76677	T	9	0.20442232	0.36632	T	0.00552	0.14227	T	0.567	0.82346	.	.	0.493892876729	0.49021	0.4182581277402809	0.41741	0.322224007838	0.34417	0.618051528931	0.55453	T	0.468503	0.80241	T	-0.224342	0.17404	T	-0.16385	0.58004	T	0.147591843545172	0.16910	T	0.940606	0.77799	D	0.5252551	0.68560	0.56992096	0.75098	0.5252551	0.68562	0.56992096	0.75098	-5.786	0.46472	T	.	.	0.106	0.28027	B	.;.;.;.;.;.	.;.;.;.;.;.	4.817670	0.78441	26.9	0.99932927586883569	0.99488	0.97489	0.75080	D	AEFDBI	0.600411	0.59305	D	0.644463995398655	0.76010	6.40842	0.619133790384352	0.76329	6.471172	0.999999999749099	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.05	5.05	0.67566	4.608000	0.60847	7.663000	0.64347	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.935000	0.47363	0.0:1.0:0.0:0.0	17.710	0.88224	414	0.81871	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2715.08	35	chr12	57533300	.	C	T	2715.08	.	AC=2;AF=0.048;AN=42;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.11;SOR=1.151	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	1	0	0
chr12	57581887	57581887	C	T	exonic	KIF5A	.	nonsynonymous SNV	KIF5A:NM_001354705:exon23:c.C2660T:p.T887I	Myoclonus, intractable, neonatal, Autosomal dominant;Spastic paraplegia 10, autosomal dominant, Autosomal dominant	.	0	1518	4	0	0	4	0.00131579	.	.	333845	not_provided|Amyotrophic_lateral_sclerosis|Hereditary_spastic_paraplegia|Spastic_paraplegia|Hereditary_spastic_paraplegia_10	MedGen:C3661900|Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MONDO:MONDO:0011408,MedGen:C1858712,OMIM:604187,Orphanet:100991	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.15	T	0.013	B	0.017	B	0.142	N	0.991	N	0	N	-0.77	T	-0.860	T	0.240	T	0.233	1.984	12.59	2.71	0.634	0.812	13.659	0.163	0.0281867094149	0.0005	.	0.0002	0	0	0.0002	0	0.0003	0	0.0004	0.0001876	29	154602	rs139801016	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0002	0.0011	0.0008	5.974e-05	6.708e-05	0.0001	0	0	0.0019	0.0002	0.0003	0.0005	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	9.701e-05	0.0002	0.0001	0	0	0.0002	0	0	0	0	0.0003	0.0005	0.0006	0.103	0.39334	T	0.389	0.16522	T	0.013	0.16609	B	0.017	0.18140	B	0.142379	0.02896	N	1.722450	0.99081	0.24122	N	0.69	0.16971	N	-0.79	0.73739	T	-0.15	0.09297	N	0.222	0.24883	-0.8601	0.51256	T	0.240	0.60738	T	10	0.04367113	0.03242	T	0.028187	0.50901	D	0.163	0.42028	.	.	0.350697349064	0.34675	0.3406326517892306	0.33976	0.672051253326	0.59506	0.405514538288	0.25835	T	0.179843	0.53098	T	-0.322984	0.06657	T	-0.379754	0.35751	T	0.0458814926025247	0.04762	T	0.79922	0.44465	T	0.04141246	0.06093	0.062232867	0.12142	0.04141246	0.06092	0.062232867	0.12141	-4.309	0.28302	T	.	.	0.083	0.14431	B	.;.	.;.	2.259320	0.28866	17.94	0.98752637853625214	0.45679	0.61076	0.31379	D	AEFBI	0.109416	0.21734	N	-0.560309074914307	0.20161	1.060829	-0.419382641922241	0.24428	1.337633	0.998509210439269	0.37090	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	4.61	2.71	0.31092	0.178000	0.16634	0.384000	0.17813	0.599000	0.40250	0.005000	0.17040	0.067000	0.22148	0.982000	0.59238	0.0:0.6764:0.3236:0.0	13.659	0.61832	285	0.88719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1241.98	41	chr12	57581887	.	C	T	1241.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.49;DP=919;ExcessHet=0.0000;FS=0.727;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=-4.300e-01;SOR=0.786	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1156	20	0	1	0
chr12	57628802	57628802	T	C	exonic	B4GALNT1	.	nonsynonymous SNV	B4GALNT1:NM_001276468:exon7:c.A748G:p.T250A	Spastic paraplegia 26, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	1.0	D	0.999	D	0.000	D	1.000	D	1.575	L	-0.92	T	-0.238	T	0.475	T	0.472	4.064	20.9	4.89	2.069	2.424	13.629	0.465	0.0948130551647	0.0002	0.000399361	3.296e-05	0.0003	0	0	0	1.499e-05	0	0	4.53e-05	7	154602	rs148118043	6.84e-06	6.84e-06	4.084e-06	9.625e-06	2.987e-05	3.46e-06	2.52e-06	1.94e-06	1.28e-06	2.987e-05	0	3.826e-05	0	1.872e-05	0	5.396e-06	0	1.159e-05	3.284e-05	3.281e-05	5.141e-05	1.343e-05	9.628e-05	1.26e-05	7.98e-06	3.244e-05	1.911e-05	9.628e-05	0	6.537e-05	0	0	0	0	0	0	0	0.161	0.27783	T	0.545	0.45961	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.053234	0.999987	0.54805	D	2.665	0.77964	M	-0.92	0.75108	T	-2.54	0.56144	D	0.364	0.40565	-0.2383	0.76670	T	0.475	0.79878	T	10	0.23328757	0.40343	T	0.094813	0.76317	D	0.465	0.76089	.	.	0.854738742074	0.85334	0.681173753741349	0.68056	0.72100061679	0.62208	0.386249750853	0.23140	T	0.461317	0.79813	T	-0.154485	0.27612	T	-0.180248	0.56501	T	0.966748237609863	0.67682	D	0.810019	0.47377	T	0.2822138	0.51260	0.3946047	0.64150	0.2822138	0.51260	0.3946047	0.64150	-4.146	0.26476	T	0.5540240695151677	0.62233	0.073	0.04889	B	.;.;.	.;.;.	5.076706	0.84698	28.4	0.99526199916130742	0.69591	0.76305	0.37413	D	AEFBCI	0.325903	0.42734	N	0.40506110340261	0.61700	4.374695	0.376688978250046	0.60131	4.197377	0.999335852541415	0.39185	0.446893	0.09132	0	0.563428	0.19063	0	0.503968	0.08637	0	0.530356	0.10902	0	.	.	4.89	4.89	0.63387	1.590000	0.36264	6.190000	0.54754	0.665000	0.62972	0.786000	0.29545	1.000000	0.68203	0.934000	0.47231	0.0:0.0:0.0:1.0	13.629	0.61654	246	0.90367	Glycosyltransferase 2-like;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1861.98	35	chr12	57628802	.	T	C	1861.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.036e+00;DP=887;ExcessHet=0.0000;FS=1.184;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.83;ReadPosRankSum=0.809;SOR=0.794	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1317	20	0	1	0
chr12	57758568	57758568	A	C	exonic	MARCHF9	.	nonsynonymous SNV	MARCHF9:NM_138396:exon4:c.A712C:p.I238L,	.	.	421	1091	10	0	0	10	0.00456204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.991	D	0.992	D	0.000	D	1.000	D	2.155	M	0.37	T	-0.512	T	0.257	T	0.747	3.583	18.25	5.56	2.330	7.116	14.814	0.210	.	0.0037	0.00179712	0.0036	0.0010	0.0047	0	0.0003	0.0051	0.0086	0.0006	0.0035899	555	154602	rs138740542	0.0047	0.0047	0.0049	0.0046	0.0055	0.0046	0.0046	0.0054	0.0053	0.0008	0.0048	0.0072	0	0.0003	0.0054	0.0055	0.0049	0.0007	0.0039	0.0039	0.0038	0.0041	0.0094	0.0037	0.0036	0.0082	0.0077	0.0012	0	0.0094	0.0107	0	0.0004	0.0170	0.0051	0.0057	0.0010	0.062	0.36912	T	0.0	0.92824	D	0.991	0.64070	D	0.977	0.80445	D	0.000000	0.84330	D	0.000000	0.999991	0.58761	D	1.61	0.41143	L	0.37	0.57729	T	-1.76	0.42957	N	0.647	0.69213	-0.5122	0.68206	T	0.257	0.62721	T	10	0.011718929	0.00255	T	.	.	.	0.210	0.50028	.	.	0.648523674005	0.64560	0.8906295767172349	0.89032	0.250531978544	0.27623	0.761087656021	0.76090	T	0.048827	0.28131	T	-0.201706	0.20559	T	-0.0605947	0.66291	T	0.0234863049732283	0.01081	T	0.89931	0.65873	D	0.37052107	0.58624	0.26393268	0.52205	0.37052107	0.58624	0.26393268	0.52204	-12.711	0.88137	D	.	.	0.368	0.65096	A	.;.	.;.	4.674648	0.74743	26.2	0.99129919949473833	0.53222	0.92141	0.55036	D	AEFDBCI	0.795141	0.72265	D	0.766135716753188	0.83952	8.153963	0.751783356581408	0.86287	8.842105	0.999999640138814	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.693144	0.63139	0	0.59522	0.37078	0	.	.	5.56	5.56	0.83678	7.295000	0.78117	11.282000	0.91772	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	14.814	0.69645	181	0.92953	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	888.98	34	chr12	57758568	.	A	C	888.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.260e-01;DP=778;ExcessHet=0.0000;FS=0.894;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.01;ReadPosRankSum=-6.500e-02;SOR=0.906	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr12	57763698	57763698	-	GGGTGGG	exonic	CYP27B1	.	frameshift insertion	CYP27B1:NM_000785:exon8:c.1325_1326insCCCACCC:p.F443Pfs*24,	Vitamin D-dependent rickets, type I, Autosomal recessive	.	6	1515	1	0	0	1	0.000329924	.	.	264701	Vitamin_D-dependent_rickets,_type_1A|Vitamin_D-dependent_rickets,_type_1|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0020723,MedGen:CN283242,OMIM:264700|MONDO:MONDO:0009924,MedGen:C0268689,Orphanet:289157|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0002	0.0012	0.0008	0.0002	0.0002	0.0011	0.0002	3.84e-05	1	26028	rs780950819	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	0.0002	0.0004	3.91e-05	0.0002	1.917e-05	0	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0010	0.0001	0.0001	0.0004	0.0003	4.899e-05	0	0.0002	0	0.0010	0	0	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	618.94	33	chr12	57763698	.	T	TGGGTGGG	618.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.37;DP=842;ExcessHet=0.0000;FS=82.618;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.01;ReadPosRankSum=-2.407e+00;SOR=6.183	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr12	57765022	57765022	A	C	exonic	CYP27B1	.	nonsynonymous SNV	CYP27B1:NM_000785:exon4:c.T779G:p.M260R,	Vitamin D-dependent rickets, type I, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	2795185	Vitamin_D-dependent_rickets,_type_1A|not_provided	MONDO:MONDO:0020723,MedGen:CN283242,OMIM:264700|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.994	D	0.968	D	0.000	D	1.000	D	1.24	L	2.68	T	-0.272	T	0.367	T	0.951	4.255	22.2	4.89	2.056	8.540	13.615	0.749	0.177764706137	.	.	8.381e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs752696414	6.842e-07	6.84e-07	1.362e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.006	0.72224	D	0.994	0.66517	D	0.968	0.71741	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.935	0.51832	L	-0.35	0.68616	T	-4.29	0.76414	D	0.916	0.91852	-0.2723	0.75750	T	0.367	0.72742	T	10	0.84472066	0.83634	D	0.177765	0.85311	D	0.749	0.91371	0.706	0.84236	0.95296664669	0.95246	0.9885819533402649	0.98852	1.64295023885	0.89391	0.757340431213	0.75534	T	0.690665	0.91003	D	0.283651	0.81627	D	0.266522	0.86404	D	0.98850154876709	0.78827	D	0.734827	0.42806	T	0.968684	0.98137	0.93274367	0.97283	0.968684	0.98137	0.93274367	0.97283	-12.782	0.88445	D	0.5834737287425094	0.65029	0.907	0.83252	P	.;.	.;.	6.245146	0.94869	34	0.98703011001037089	0.44939	0.97999	0.78758	D	AEFDGBCI	0.957534	0.97677	D	0.658478366352148	0.76919	6.575922	0.659523272039407	0.79323	7.057906	1.0	0.98316	0.652421	0.48094	0	0.552344	0.17405	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	4.89	4.89	0.63387	8.824000	0.91650	11.201000	0.89033	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.615	0.61574	182	0.92924	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3089.98	40	chr12	57765022	.	A	C	3089.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=987;ExcessHet=0.0000;FS=0.967;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=1.31;SOR=0.618	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr12	57765390	57765390	C	G	exonic	CYP27B1	.	nonsynonymous SNV	CYP27B1:NM_000785:exon3:c.G496C:p.V166L,	Vitamin D-dependent rickets, type I, Autosomal recessive	.	0	1505	17	0	0	17	0.00561612	.	.	870243	Vitamin_D-dependent_rickets,_type_1|not_provided	MONDO:MONDO:0009924,MedGen:C0268689,Orphanet:289157|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.28	T	0.015	B	0.071	B	0.000	D	0.761	N	0.81	L	-0.2	T	-0.912	T	0.151	T	0.407	0.345	5.874	5.06	2.625	2.415	10.861	0.101	.	0.0017	0.0145767	0.0117	0.0005	0.0038	0.0032	0.0002	0.0019	0.0241	0.0678	0.0093142	1440	154602	rs8176344	0.0060	0.0060	0.0044	0.0077	0.0631	0.0059	0.0059	0.0616	0.0611	0.0008	0.0032	3.832e-05	0.0015	0.0005	0.0023	0.0023	0.0085	0.0631	0.0039	0.0039	0.0031	0.0047	0.0674	0.0036	0.0035	0.0614	0.0591	0.0011	0	0.0024	0	0.0040	0.0008	0	0.0020	0.0104	0.0674	0.569	0.06204	T	0.45	0.12957	T	0.015	0.17086	B	0.071	0.27960	B	0.000222	0.47286	D	0.164208	0.760797	0.29541	N	1.2	0.30300	L	-0.2	0.66113	T	0.04	0.06488	N	0.148	0.15046	-0.9125	0.46543	T	0.151	0.47944	T	10	0.002989173	0.00049	T	.	.	.	0.101	0.28911	0.262	0.20631	.	.	0.4677598049558813	0.46694	0.467334885354	0.46115	0.685787141323	0.65100	T	0.135799	0.46781	T	-0.391921	0.02614	T	-0.28863	0.45916	T	0.0355887090034149	0.02910	T	0.825917	0.48908	T	0.1344374	0.31235	0.15843023	0.36997	0.16172789	0.36201	0.23358274	0.48550	-4.927	0.36037	T	0.1796851102065633	0.23089	0.159	0.35204	B	.	.	2.319049	0.29694	18.20	0.68859940478482518	0.08789	0.82424	0.41654	D	ALL	0.453646	0.50669	N	-0.275588801861829	0.30094	1.674845	-0.142707017944204	0.33690	1.929773	0.99999999974257	0.74766	0.437478	0.07067	0	0.552344	0.17405	0	0.606814	0.37721	0	0.618803	0.45993	0	.	.	5.06	5.06	0.67838	2.594000	0.45853	5.975000	0.52067	0.596000	0.33519	0.993000	0.37899	1.000000	0.68203	0.057000	0.15750	0.0:0.9127:0.0:0.0873	10.861	0.46034	182	0.92924	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2228.98	40	chr12	57765390	.	C	G	2228.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.129e+00;DP=943;ExcessHet=0.0000;FS=2.364;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.51;ReadPosRankSum=0.705;SOR=0.887	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr12	57782806	57782806	C	T	exonic	TSFM	.	nonsynonymous SNV	TSFM:NM_001172695:exon1:c.C5T:p.S2L	Combined oxidative phosphorylation deficiency 3, Autosomal recessive	YES	0	1521	1	0	0	1	0.000328623	.	.	693265	not_provided|Fatal_mitochondrial_disease_due_to_combined_oxidative_phosphorylation_defect_type_3	MedGen:C3661900|MONDO:MONDO:0012512,MedGen:C1864840,OMIM:610505,Orphanet:168566	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.02	D	0.001	B	0.002	B	0.038	N	1.000	D	0.695	N	.	.	-1.054	T	0.054	T	0.164	1.404	10.63	2.23	0.577	-0.442	5.103	0.057	.	0.0082	0.00798722	0.0041	0.0386	0.0026	0	0	9.764e-05	0.0057	0	0.0017788	275	154602	rs35957924	0.0007	0.0007	0.0008	0.0006	0.0232	0.0007	0.0007	0.0218	0.0213	0.0232	0.0012	0.0002	0	0	0.0010	8.261e-05	0.0018	0.0001	0.0064	0.0064	0.0065	0.0063	0.0226	0.0060	0.0059	0.0214	0.0209	0.0226	0	0.0016	0	0	0	0	5.88e-05	0.0014	0.0002	0.177	0.33585	T	0.022	0.63109	D	0.0	0.07471	B	0.0	0.06944	B	0.038485	0.24280	N	0.426980	1	0.81001	D	0.205	0.09354	N	.	.	.	-0.91	0.29323	N	0.14	0.24135	-1.0540	0.13305	T	0.054	0.22883	T	9	0.00456059	0.00095	T	.	.	.	0.057	0.16321	.	.	0.300784259202	0.29686	0.5627483519996492	0.56201	0.049866187842	0.05475	0.432685732841	0.29575	T	0.132655	0.46288	T	-0.521536	0.00431	T	-0.505007	0.21830	T	0.00979287582478674	0.00129	T	0.870113	0.57479	D	0.037204824	0.04726	0.07059031	0.15015	0.034295496	0.03822	0.10068792	0.24082	-4.262	0.34440	T	.	.	0.168	0.37914	B	.;.;.;.;.;.	.;.;.;.;.;.	0.826523	0.11977	8.538	0.96960745902308587	0.31779	0.16319	0.19334	N	ALL	0.115958	0.22778	N	-0.764139072462668	0.14252	0.7084264	-0.666016537484574	0.17813	0.9488337	1.0	0.98316	0.441713	0.08003	0	0.504199	0.08210	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.69	2.23	0.27189	-0.439000	0.06967	-0.345000	0.09787	-2.067000	0.00410	0.884000	0.31069	0.000000	0.08366	0.004000	0.06068	0.0:0.6514:0.2049:0.1438	5.103	0.14102	189	0.92630	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1811.98	133	chr12	57782806	.	C	T	1811.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.184;DP=859;ExcessHet=0.0000;FS=4.144;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.62;ReadPosRankSum=1.98;SOR=0.685	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1297	20	0	1	0
chr12	57796293	57796293	G	T	exonic	TSFM	.	nonsynonymous SNV	TSFM:NM_005726:exon6:c.G688T:p.V230L	Combined oxidative phosphorylation deficiency 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	333962	not_provided|See_cases|Inborn_genetic_diseases|Fatal_mitochondrial_disease_due_to_combined_oxidative_phosphorylation_defect_type_3	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012512,MedGen:C1864840,OMIM:610505,Orphanet:168566	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.45	T	0.0	B	0.004	B	0.106	N	1.000	N	-0.205	N	.	.	-1.031	T	0.034	T	0.134	1.196	9.859	3.22	0.700	1.145	4.317	0.024	0.00314008538647	0.0006	.	0.0004	0.0002	0	0	0	0.0008	0	0	0.0003752	58	154602	rs151248026	0.0007	0.0007	0.0008	0.0007	0.0009	0.0007	0.0007	0.0009	0.0008	5.978e-05	0.0001	3.842e-05	0	0	0	0.0009	0.0005	9.303e-05	0.0003	0.0003	0.0003	0.0004	0.0006	0.0003	0.0002	0.0005	0.0004	0.0001	0	6.543e-05	0	0	0	0	0.0006	0.0005	0	0.295	0.15458	T	0.488	0.12386	T	0.0	0.02946	B	0.0	0.10090	B	0.105981	0.19635	N	0.534254	1	0.81001	D	0.27	0.09956	N	.	.	.	-0.32	0.12283	N	0.127	0.23758	-1.0312	0.20066	T	0.034	0.14464	T	9	0.03452897	0.01664	T	0.00314	0.06845	T	0.024	0.04979	0.493	0.58048	0.299427821978	0.29548	0.33191199273396155	0.33104	0.0539204389658	0.05956	0.354678720236	0.18609	T	0.065035	0.32587	T	-0.463459	0.00935	T	-0.532418	0.19047	T	0.00795782732764628	0.00094	T	0.536546	0.18022	T	0.023983853	0.01186	0.031274624	0.01694	0.023983853	0.01186	0.031274624	0.01694	-3.323	0.17110	T	.	.	0.109	0.20663	B	.;.	.;.	1.393997	0.18068	13.53	0.9035365563106702	0.19618	0.83221	0.42356	D	AEFBI	0.412551	0.48258	N	-0.73035875237626	0.15171	0.7623152	-0.536424818794438	0.21167	1.143805	0.486718192887972	0.20829	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.1	3.22	0.36041	1.618000	0.36565	3.003000	0.35929	-0.708000	0.03965	0.970000	0.34288	1.000000	0.68203	0.861000	0.40843	0.2518:0.1718:0.5764:0.0	4.317	0.10438	193	0.92507	Translation elongation factor EFTs/EF1B, dimerisation;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	4185.08	36	chr12	57796293	.	G	T	4185.08	.	AC=2;AF=0.048;AN=42;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.47;SOR=0.905	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1145	20	1	0	0
chr12	57810378	57810378	C	A	exonic	AVIL	.	nonsynonymous SNV	AVIL:NM_006576:exon6:c.G732T:p.Q244H,	.	.	424	1092	6	0	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.998	D	0.951	D	0.000	D	0.993	D	1.935	M	1.6	T	-0.986	T	0.134	T	0.375	3.252	16.91	2.33	0.774	0.317	8.284	0.119	.	.	0.00219649	0.0019	9.612e-05	8.642e-05	0	0	4.496e-05	0.0022	0.0138	0.0016559	256	154602	rs553704153	0.0009	0.0009	0.0005	0.0013	0.0149	0.0009	0.0009	0.0142	0.0139	0	0	0	0	0	0	7.194e-06	0.0008	0.0149	0.0005	0.0005	0.0002	0.0009	0.0170	0.0004	0.0004	0.0140	0.0129	0	0	0	0	0	0	0	0	0	0.0170	0.059	0.37536	T	0.182	0.29249	T	0.99	0.63424	D	0.894	0.63417	P	0.000002	0.62929	D	0.062217	0.992705	0.41719	D	2.455	0.71248	M	1.6	0.28604	T	-2.77	0.58733	D	0.236	0.26596	-0.9864	0.33494	T	0.134	0.44700	T	10	0.0045081675	0.00093	T	.	.	.	0.119	0.33137	0.313	0.28774	0.392239652056	0.38839	0.4858277189055344	0.48502	0.114269200615	0.12884	0.371850579977	0.21098	T	0.47864	0.80838	T	-0.47916	0.00748	T	-0.450026	0.27695	T	0.14904947594138	0.17027	T	0.693931	0.30359	T	0.22551382	0.45214	0.20115821	0.44081	0.22551382	0.45214	0.20115821	0.44080	-6.569	0.50816	T	0.33912104432035944	0.43694	0.152	0.33710	B	.	.	3.053401	0.40982	21.3	0.99599399067747163	0.74101	0.37034	0.25669	N	AEFGBCI	0.269338	0.38563	N	-0.0145458003384868	0.41197	2.459923	-0.119999220196825	0.34584	1.991036	0.956089929611213	0.28227	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	5.19	2.33	0.27981	0.404000	0.20722	0.486000	0.18854	-0.202000	0.08738	0.036000	0.20778	0.997000	0.33255	0.927000	0.46353	0.0:0.6769:0.0:0.3231	8.284	0.31075	197	0.92378	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2702.11	33	chr12	57810378	.	C	A	2702.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.200e-02;DP=910;ExcessHet=0.1072;FS=6.789;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=0.204;SOR=1.059	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	19	0	2	0
chr12	59775376	59775376	A	G	exonic	SLC16A7	.	nonsynonymous SNV	SLC16A7:NM_004731:exon4:c.A1081G:p.T361A	.	.	429	1081	10	2	0	14	0.00643382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.868	P	0.644	P	0.000	D	1.000	D	1.82	L	1.01	T	-0.989	T	0.145	T	0.496	3.834	19.47	3.33	0.479	5.203	11.077	0.189	0.0169708297731	0.0002	0.00179712	0.0015	9.61e-05	0.0005	0	0	0.0001	0.0022	0.0098	0.0012872	199	154602	rs143304922	0.0007	0.0007	0.0004	0.0010	0.0096	0.0007	0.0007	0.0091	0.0089	0	8.946e-05	3.826e-05	0	1.872e-05	0.0043	0.0001	0.0010	0.0096	0.0005	0.0005	0.0004	0.0006	0.0086	0.0004	0.0004	0.0065	0.0058	7.288e-05	0	0.0002	0	0	0	0.0034	0.0004	0.0005	0.0086	0.02	0.52492	D	0.088	0.41913	T	0.868	0.47740	P	0.644	0.52249	P	0.000069	0.52346	D	0.198001	0.998489	0.46174	D	1.995	0.54099	M	1.01	0.41058	T	-1.99	0.48850	N	0.632	0.66615	-0.9891	0.32828	T	0.145	0.46823	T	9	0.010718942	0.00237	T	0.016971	0.38471	T	0.189	0.46613	.	.	0.577534042849	0.57422	0.45691763541533287	0.45609	0.200536113412	0.22454	0.504253149033	0.39420	T	0.183169	0.54321	T	-0.403557	0.02194	T	-0.344925	0.39786	T	0.0933221570739685	0.11607	T	0.90391	0.70896	D	0.54180837	0.69497	0.17784451	0.40414	0.54180837	0.69498	0.17784451	0.40413	-3.492	0.16320	T	.	.	0.214	0.50472	B	.;.;.;.;.	.;.;.;.;.	3.607230	0.50976	23.0	0.99684936706490079	0.79507	0.95673	0.65672	D	AEFI	0.543630	0.55888	D	0.213590797103061	0.51858	3.363847	0.184636665345029	0.49006	3.109056	0.00357927579864097	0.10184	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.77	3.33	0.37245	4.425000	0.59623	6.107000	0.53619	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.7452:0.0:0.0:0.2548	11.077	0.47257	892	0.26670	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3814.08	33	chr12	59775376	.	A	G	3814.08	.	AC=2;AF=0.048;AN=42;DP=804;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.32;SOR=1.227	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1109	20	1	0	0
chr12	62538461	62538461	T	G	exonic	MON2	.	nonsynonymous SNV	MON2:NM_001278469:exon19:c.T2320G:p.S774A	.	.	460	1061	1	0	0	1	0.000471032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.745	P	0.431	B	0.000	D	1.000	D	0.895	L	0.57	T	-0.845	T	0.190	T	0.638	3.596	18.31	5.15	2.054	6.188	15.268	0.175	0.0663066615019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.033	0.53072	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	0.69	0.16971	N	-0.14	0.65006	T	-1.34	0.33401	N	0.396	0.47022	-0.8451	0.52304	T	0.190	0.54138	T	9	0.4458321	0.58389	T	0.066307	0.69835	D	0.175	0.44197	0.668	0.80602	0.301078425253	0.29709	0.1955620335113717	0.19473	.	.	0.828059077263	0.86265	D	0.024713	0.18622	T	0.0821275	0.62288	D	-0.119806	0.61819	T	0.898415505886078	0.55051	D	0.957004	0.97826	D	0.24412848	0.47359	0.21712464	0.46367	0.24412848	0.47359	0.21712464	0.46366	-3.696	0.23864	T	.	.	0.097	0.19154	B	.;.;.;.;.;.	.;.;.;.;.;.	3.887437	0.56536	23.7	0.99406067902652939	0.63028	0.98327	0.81666	D	AEFBI	0.724608	0.67385	D	0.233953487493469	0.52851	3.456785	0.345842798578083	0.58259	3.995306	0.99999999887989	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.631631	0.49550	0	.	.	5.15	5.15	0.70287	6.147000	0.71549	7.821000	0.69751	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:0.0:1.0	15.268	0.73380	752	0.51611	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1301.98	33	chr12	62538461	.	T	G	1301.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.070e-01;DP=804;ExcessHet=0.0000;FS=4.512;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=0.153;SOR=1.039	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr12	62689734	62689734	T	C	exonic	PPM1H	.	nonsynonymous SNV	PPM1H:NM_020700:exon8:c.A1210G:p.I404V,	.	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.756	P	0.401	B	0.000	D	1.000	D	1.15	L	2.99	T	-1.073	T	0.031	T	0.503	4.272	22.3	5.72	2.184	7.633	16.004	0.151	0.0229730289377	0.0012	.	0.0011	0.0005	0.0003	0	0	0.0018	0	0.0003	0.0009702	150	154602	rs201286163	0.0007	0.0007	0.0006	0.0007	0.0033	0.0006	0.0006	0.0022	0.0018	5.974e-05	0.0006	0.0144	0	0	0.0033	0.0004	0.0017	0.0004	0.0007	0.0007	0.0007	0.0007	0.0012	0.0006	0.0005	0.0008	0.0006	0.0001	0	0.0012	0.0133	0	0	0	0.0004	0.0019	0.0004	0.193	0.20912	T	0.258	0.23164	T	0.756	0.43409	P	0.401	0.44513	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.46	0.12951	N	2.99	0.09262	T	-0.55	0.16799	N	0.495	0.52829	-1.0735	0.08660	T	0.031	0.13286	T	9	0.008463144	0.00192	T	0.022973	0.45902	T	0.151	0.39764	.	.	0.0675242888579	0.06100	0.40792902563073197	0.40708	1.0503128357	0.76124	0.783047556877	0.79388	T	0.005429	0.04881	T	-0.35751	0.04272	T	-0.377864	0.35973	T	0.0235259052351158	0.01086	T	0.940906	0.77861	D	0.109454066	0.25876	0.13789979	0.32948	0.109454066	0.25876	0.13789979	0.32947	-8.167	0.62202	D	.	.	0.234	0.46779	B	.	.	3.949952	0.57854	23.9	0.99860786439386962	0.93911	0.98142	0.79959	D	AEFDBI	0.947334	0.95777	D	0.402252069594705	0.61548	4.357235	0.507922572596604	0.68522	5.23175	0.999999999999795	0.74766	0.732398	0.92422	0	0.547309	0.14657	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	5.72	5.72	0.89380	7.610000	0.82153	7.836000	0.70319	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.004	0.80122	464	0.78488	PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1065.98	100	chr12	62689734	.	T	C	1065.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.705e+00;DP=806;ExcessHet=0.0000;FS=0.735;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=-3.410e-01;SOR=0.776	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1277	20	0	1	0
chr12	64094951	64094951	C	T	exonic	SRGAP1	.	nonsynonymous SNV	SRGAP1:NM_001346201:exon13:c.C1490T:p.P497L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.004	U	1.000	D	4.66	H	-1.67	D	1.041	D	0.862	D	0.965	4.754	26.6	5.05	2.506	7.731	18.778	0.871	0.477149508009	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1321506999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.576e-06	6.569e-06	0	1.346e-05	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.003518	0.34847	U	0.000000	1	0.81001	D	5.245	0.99966	H	-1.67	0.82806	D	-8.91	0.97942	D	0.994	0.99899	1.041	0.97931	D	0.862	0.95394	D	9	0.9766516	0.97462	D	0.47715	0.94780	D	0.871	0.96133	0.818	0.93195	0.917048781376	0.91621	0.9220230046232393	0.92179	0.853553387311	0.68658	0.808189690113	0.83214	D	0.658826	0.89736	D	0.445754	0.92290	D	0.402518	0.92194	D	0.999464809894562	0.97510	D	0.983302	0.94339	D	0.581759	0.71704	0.55074006	0.74023	0.581759	0.71705	0.55074006	0.74024	-10.144	0.74769	D	.	.	0.971	0.89526	P	.;.;.	.;.;.	5.271034	0.88506	29.6	0.99810721164317762	0.89442	0.99127	0.91622	D	AEFBI	0.884659	0.81453	D	0.985702751092392	0.95289	13.47936	0.859280216376727	0.93545	12.11502	1.0	0.98316	0.615465	0.37627	0	0.573888	0.26702	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.05	5.05	0.67566	7.842000	0.85116	7.707000	0.66598	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:1.0:0.0:0.0	18.778	0.91883	917	0.20147	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	122.14	41	chr12	64094951	.	C	T	122.14	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-2.450e+00;DP=926;ExcessHet=1.7912;FS=99.434;InbreedingCoeff=-0.1390;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.47;ReadPosRankSum=-6.800e-02;SOR=9.736	GT:AD:DP:GQ:PL	0/1:34,8:42:11:11,0,595	15	0	6	0
chr12	64108967	64108967	C	T	exonic	SRGAP1	.	nonsynonymous SNV	SRGAP1:NM_001346201:exon16:c.C1780T:p.R594C	.	.	430	1083	9	0	0	9	0.00413793	.	.	204983	Thyroid_cancer,_nonmedullary,_2|SRGAP1-related_disorder	MONDO:MONDO:0008566,MedGen:C4225426,OMIM:188470|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	1.0	D	0.982	D	0.059	U	1.000	D	3.225	M	2.03	T	-0.617	T	0.205	T	0.953	5.436	35	5.2	2.822	7.687	19.629	0.483	0.286629796113	0.0014	0.000599042	0.0011	0.0004	0.0003	0.0001	0.0002	0.0017	0.0044	0.0005	0.0010155	157	154602	rs114817817	0.0009	0.0009	0.0009	0.0010	0.0082	0.0009	0.0009	0.0064	0.0057	0.0003	0.0008	0.0012	2.528e-05	0.0001	0.0082	0.0010	0.0013	0.0008	0.0010	0.0010	0.0010	0.0010	0.0027	0.0009	0.0008	0.0021	0.0019	0.0002	0	0.0027	0.0009	0	0	0	0.0014	0.0014	0.0004	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.982	0.75477	D	0.058512	0.22396	U	0.216473	1	0.81001	D	3.345	0.91022	M	2.03	0.20959	T	-5.04	0.82638	D	0.839	0.89689	-0.6169	0.64117	T	0.205	0.56307	T	9	0.212701	0.37738	T	0.28663	0.90419	D	0.483	0.77271	.	.	0.574025660704	0.57070	0.721531588012623	0.72097	0.965204057572	0.73154	0.76381778717	0.76499	T	0.197032	0.55358	T	-0.0346167	0.46744	T	0.164269	0.81066	D	0.135024799091517	0.15838	T	0.993001	0.97720	D	0.3574266	0.57639	0.37712714	0.62819	0.34536403	0.56704	0.3288049	0.58765	-11.13	0.80365	D	.	.	0.261	0.50287	B	.;.;.	.;.;.	5.891573	0.93966	33	0.99929663504231325	0.99279	0.98807	0.87109	D	AEFBI	0.916984	0.88396	D	0.906928332463023	0.92093	11.230	0.849146933871775	0.92966	11.74105	1.0	0.98316	0.651	0.46895	0	0.588015	0.36545	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	5.2	5.2	0.71720	7.816000	0.84708	7.647000	0.63496	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	19.629	0.95689	917	0.20147	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	514.98	33	chr12	64108967	.	C	T	514.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.09;DP=736;ExcessHet=0.0000;FS=3.838;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.88;ReadPosRankSum=-2.400e-02;SOR=1.287	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1108	20	0	1	0
chr12	64187626	64187626	C	T	exonic	C12orf66	.	nonsynonymous SNV	C12orf66:NM_001300940:exon4:c.G1360A:p.V454M,	.	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	N	0.998	D	.	.	1.45	T	-1.050	T	0.059	T	0.092	0.146	4.786	-2.79	-0.473	-0.780	4.049	0.014	0.00281078511335	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1185364941	2.313e-05	2.189e-05	1.57e-05	3.076e-05	3.167e-05	1.674e-05	1.433e-05	1.677e-05	1.425e-05	3.167e-05	0	0	0	2.94e-05	0	2.411e-05	3.449e-05	2.526e-05	3.291e-05	3.286e-05	5.145e-05	1.347e-05	5.88e-05	1.262e-05	7.99e-06	1.972e-05	1.124e-05	2.419e-05	0	0	0	0	0	0	5.88e-05	0	0	0.407	0.10245	T	0.216	0.26226	T	.	.	.	.	.	.	0.238625	0.15761	N	0.531595	0.999933	0.19363	N	.	.	.	1.45	0.32482	T	-0.04	0.07590	N	0.148	0.15046	-1.0496	0.14509	T	0.059	0.24797	T	6	0.09118363	0.15952	T	0.002811	0.05869	T	0.014	0.01968	0.283	0.23961	0.0675242888579	0.06100	0.36603456424990427	0.36517	.	.	.	.	.	.	.	.	-0.513329	0.00481	T	-0.715459	0.05017	T	0.0468732602894306	0.04942	T	0.419458	0.11115	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.833865	0.12054	8.609	0.74121986629095105	0.10578	0.00795	0.03245	N	ALL	0.016978	0.00415	N	-0.735645111952012	0.15026	0.7536467	-0.873480517161831	0.12724	0.6561913	0.99999994051823	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.607083	0.38531	0	.	.	3.3	-2.79	0.05494	-0.794000	0.04690	-1.540000	0.05213	-1.988000	0.00457	0.449000	0.26558	0.000000	0.08366	0.010000	0.09038	0.0:0.3535:0.1924:0.4541	4.049	0.09266	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	588.98	34	chr12	64187626	.	C	T	588.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.390;DP=758;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.41;ReadPosRankSum=-1.690e-01;SOR=0.678	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1102	20	0	1	0
chr12	64424689	64424689	G	A	exonic	XPOT	.	nonsynonymous SNV	XPOT:NM_007235:exon12:c.G1273A:p.A425T,	.	.	615	905	2	0	0	2	0.00110375	.	.	2221289	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.000	D	0.995	D	0.205	N	-0.23	T	-0.964	T	0.140	T	0.135	0.888	8.604	5.42	2.732	5.625	12.901	0.064	0.0168388382216	.	0.000399361	6.592e-05	0	0	0	0	4.496e-05	0	0.0003	6.47e-05	10	154602	rs528132023	4.38e-05	4.378e-05	2.724e-05	6.054e-05	0.0003	3.51e-05	3.194e-05	0.0002	0.0002	0	0	0	0	0	0.0002	2.518e-05	9.946e-05	0.0003	1.972e-05	1.969e-05	0	4.032e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.82	0.02958	T	0.636	0.07059	T	0.0	0.02946	B	0.0	0.01387	B	0.000051	0.53742	D	0.162995	0.995173	0.42575	D	-0.345	0.03330	N	-0.23	0.66652	T	-0.37	0.13226	N	0.219	0.24510	-0.9639	0.38428	T	0.140	0.45828	T	9	0.037675083	0.02137	T	0.016839	0.38283	T	0.064	0.18567	.	.	0.0934897674506	0.08844	0.10862987213346623	0.10791	0.344783530662	0.36405	0.643928408623	0.59122	T	0.091776	0.38867	T	-0.351897	0.04609	T	-0.44706	0.28021	T	0.0999491786386988	0.12352	T	0.876912	0.58964	D	0.05691841	0.11262	0.09282682	0.21895	0.05691841	0.11261	0.09282682	0.21895	-3.942	0.22933	T	.	.	0.076	0.05756	B	.	.	2.793284	0.36723	20.3	0.62569026178375409	0.06996	0.95710	0.65826	D	AEFGBI	0.468302	0.51516	N	-0.136444899387964	0.35814	2.061911	0.0676556386997695	0.42933	2.605708	0.998410800989557	0.36924	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.42	5.42	0.78666	5.713000	0.68067	11.770000	0.95838	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.886000	0.42526	0.0746:0.0:0.9254:0.0	12.901	0.57515	815	0.41851	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1095.98	38	chr12	64424689	.	G	A	1095.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.053;DP=872;ExcessHet=0.0000;FS=0.701;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.37;ReadPosRankSum=-9.340e-01;SOR=0.834	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1388	20	0	1	0
chr12	64430176	64430176	C	T	exonic	XPOT	.	nonsynonymous SNV	XPOT:NM_007235:exon17:c.C1865T:p.T622I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.306	B	0.08	B	0.125	N	0.868	D	1.76	L	-0.27	T	-0.645	T	0.231	T	0.335	2.503	14.33	5.28	2.646	2.924	14.847	0.077	0.0285640204716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.40832	D	0.05	0.48080	T	0.306	0.32693	B	0.08	0.28873	B	0.125218	0.18851	N	0.584116	0.868061	0.35510	D	2.625	0.76847	M	-0.27	0.67367	T	-2.24	0.50175	N	0.595	0.61426	-0.6452	0.62922	T	0.231	0.59719	T	9	0.36646053	0.53139	T	0.028564	0.51224	D	0.077	0.22490	0.437	0.48993	0.498516491401	0.49487	0.33072634797977407	0.32985	0.445790252621	0.44461	0.539954900742	0.44439	T	0.40878	0.76401	T	-0.0225639	0.48487	T	-0.270188	0.47801	T	0.503273010253906	0.32749	D	0.89491	0.63503	D	0.14096336	0.32501	0.13112544	0.31493	0.14096336	0.32501	0.13112544	0.31492	-6.403	0.49533	T	.	.	0.124	0.26232	B	.	.	3.077711	0.41394	21.3	0.99632002193371538	0.76081	0.91439	0.53536	D	AEFBI	0.216140	0.34142	N	0.123956431223719	0.47582	2.981917	0.250860920292627	0.52699	3.442951	0.933309268617801	0.27123	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.28	5.28	0.74118	2.985000	0.49051	7.663000	0.64347	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.976000	0.56436	0.0:0.8565:0.1435:0.0	14.847	0.69900	698	0.58074	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1382.98	33	chr12	64430176	.	C	T	1382.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.350e-01;DP=777;ExcessHet=0.0000;FS=0.817;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.27;ReadPosRankSum=0.031;SOR=0.818	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1148	20	0	1	0
chr12	64691559	64691559	C	T	exonic	RASSF3	.	nonsynonymous SNV	RASSF3:NM_178169:exon4:c.C547T:p.R183C,	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	B	0.077	B	0.000	D	1.000	D	1.445	L	1.0	T	-1.039	T	0.102	T	0.699	3.196	16.70	4.85	2.415	4.221	18.384	0.185	0.0235204509456	.	.	0.0003	0	0.0016	0.0003	0.0005	7.612e-05	0.0011	0	0.0002005	31	154602	rs760202939	7.075e-05	7.047e-05	8.341e-05	5.797e-05	0.0006	5.938e-05	5.545e-05	0.0005	0.0004	3.001e-05	0.0006	0	0.0003	0.0004	0	3.072e-05	8.315e-05	0	0.0001	0.0001	6.648e-05	0.0002	0.0004	7.347e-05	6.057e-05	7.082e-05	2.952e-05	4.948e-05	0	0.0001	0	0.0004	0.0006	0	4.554e-05	0.0010	0	0.028	0.46129	D	0.0	0.92824	D	0.309	0.32767	B	0.077	0.28532	B	0.000001	0.62929	D	0.054582	1	0.81001	D	2.245	0.63543	M	1.0	0.41392	T	-5.72	0.87531	D	0.762	0.76019	-1.0393	0.17526	T	0.102	0.37669	T	9	0.13076803	0.24886	T	0.02352	0.46484	T	0.185	0.45933	.	.	0.640728931914	0.63776	0.6621055531613848	0.66147	0.195997747889	0.21957	0.744822263718	0.73682	T	0.120014	0.44196	T	-0.203046	0.20365	T	-0.170857	0.57364	T	0.157147936059469	0.17658	T	0.915608	0.71908	D	0.53718185	0.69238	0.45815474	0.68516	0.53718185	0.69240	0.45815474	0.68516	-10.365	0.76068	D	.	.	0.373	0.58416	A	.;.;.	.;.;.	5.113137	0.85491	28.6	0.99740375844663753	0.83482	0.82781	0.41963	D	AEFGBHCI	0.767668	0.70346	D	0.0898173723096233	0.45989	2.846341	0.223577070880801	0.51157	3.30085	0.999999999976442	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.52208	0.10781	0	0.735409	0.98432	0	.	.	4.85	4.85	0.62375	4.164000	0.57977	7.582000	0.60992	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:1.0:0.0:0.0	18.384	0.90405	657	0.62240	Ras-associating (RA) domain|Ras-associating (RA) domain|Ras-associating (RA) domain;Ras-associating (RA) domain|Ras-associating (RA) domain|Ras-associating (RA) domain;Ras-associating (RA) domain|Ras-associating (RA) domain|Ras-associating (RA) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1586.98	34	chr12	64691559	.	C	T	1586.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.373;DP=825;ExcessHet=0.0000;FS=2.252;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=0.989;SOR=0.504	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1268	20	0	1	0
chr12	66244572	66244572	G	A	exonic	IRAK3	.	nonsynonymous SNV	IRAK3:NM_001142523:exon8:c.G791A:p.S264N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.437	B	0.093	B	0.050	N	1.000	N	1.595	L	-0.14	T	-1.021	T	0.121	T	0.077	0.675	7.614	-0.617	-0.415	0.144	1.368	0.066	0.0177233720411	.	.	3.295e-05	0	8.637e-05	0	0	4.495e-05	0	0	3.23e-05	5	154602	rs754495502	2.805e-05	2.805e-05	2.859e-05	2.75e-05	0.0019	2.087e-05	1.878e-05	0.0011	0.0008	5.975e-05	0	0	0	0	0.0019	1.889e-05	6.624e-05	3.478e-05	1.97e-05	1.969e-05	0	4.03e-05	1.47e-05	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0.0034	1.47e-05	0.0005	0	0.005	0.63226	D	0.069	0.43913	T	0.437	0.35811	B	0.093	0.30104	B	0.049791	0.23129	N	0.477830	1	0.08975	N	1.48	0.37141	L	-0.14	0.65006	T	-2.2	0.49519	N	0.16	0.23884	-1.0206	0.23519	T	0.121	0.42187	T	9	0.10956067	0.20442	T	0.017723	0.39529	T	0.066	0.19193	0.381	0.39807	0.787280612622	0.78530	0.2615107050651214	0.26064	0.0227418883383	0.02294	0.335206478834	0.15719	T	0.136409	0.46876	T	-0.302229	0.08451	T	-0.541457	0.18154	T	0.0460374650471422	0.04790	T	0.561544	0.19673	T	0.17914955	0.38971	0.1126124	0.27173	0.17914955	0.38971	0.1126124	0.27172	-5.076	0.37653	T	.	.	0.061	0.04477	B	.;.	.;.	0.293379	0.06695	3.201	0.90731464583626453	0.19981	0.04988	0.10760	N	AEFDGBI	0.040972	0.06167	N	-0.898960386173715	0.10867	0.5214604	-0.983526788227398	0.10154	0.5096732	0.988598685297875	0.31567	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.64	-0.617	0.10999	0.169000	0.16457	0.475000	0.18750	-0.118000	0.14412	0.234000	0.24685	0.018000	0.20648	0.048000	0.15020	0.3144:0.1359:0.4099:0.1398	1.368	0.02073	725	0.54935	Protein kinase domain|Protein kinase domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1394.98	35	chr12	66244572	.	G	A	1394.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.150e-01;DP=835;ExcessHet=0.0000;FS=3.230;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=1.34;SOR=0.837	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1248	20	0	1	0
chr12	66310195	66310195	G	A	exonic	HELB	.	nonsynonymous SNV	HELB:NM_001370285:exon4:c.G1267A:p.D423N	.	.	429	1092	1	0	0	1	0.000457666	.	.	3263085	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.675	P	0.13	B	0.002	N	1.000	N	1.04	L	2.63	T	-0.998	T	0.021	T	0.049	2.934	15.78	5.11	2.941	1.648	8.832	0.085	0.00366952090135	0.0004	0.000199681	0.0003	9.628e-05	0	0	0.0003	0.0004	0	0.0002	0.0002264	35	154602	rs145110411	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0002	0.0012	0.0009	5.974e-05	0.0001	0	0	5.618e-05	0.0021	0.0002	0.0001	0.0001	0.0002	0.0002	0.0002	9.397e-05	0.0003	0.0001	0.0001	0.0002	0.0002	9.624e-05	0	6.533e-05	0	0.0002	0	0	0.0003	0.0005	0	0.094	0.31383	T	0.031	0.53788	D	0.675	0.41275	P	0.13	0.32896	B	0.001726	0.38161	N	0.282482	1	0.08975	N	2.08	0.57402	M	2.63	0.12884	T	-1.29	0.32387	N	0.13	0.12484	-0.9979	0.30507	T	0.021	0.09056	T	9	0.046358913	0.03816	T	0.00367	0.08464	T	0.085	0.24743	.	.	0.432154444652	0.42834	0.2966372676196461	0.29576	0.166873589523	0.18820	0.302598297596	0.10789	T	0.004082	0.03492	T	-0.562687	0.00245	T	-0.727965	0.04420	T	0.0397815071046352	0.03651	T	.	.	.	0.05672085	0.11197	0.054973558	0.09558	0.05672085	0.11197	0.054973558	0.09557	-3.198	0.12456	T	.	.	0.076	0.06159	B	.	.	1.444081	0.18638	13.85	0.99571758021693024	0.72440	0.12413	0.17253	N	AEFGBI	0.050214	0.08755	N	-0.218038726750909	0.32394	1.826395	-0.20656136507292	0.31300	1.770074	0.93719001561287	0.27286	0.562547	0.31514	0	0.653731	0.59785	0	0.463624	0.06942	0	0.567892	0.33627	0	.	.	6.17	5.11	0.69188	1.541000	0.35732	2.845000	0.35104	0.676000	0.76740	0.042000	0.21073	0.996000	0.32793	0.035000	0.13729	0.1192:0.1569:0.7239:0.0	8.832	0.34248	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2531.98	34	chr12	66310195	.	G	A	2531.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.391;DP=941;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.82;ReadPosRankSum=-1.100e-02;SOR=0.675	GT:AD:DP:GQ:PL	0/1:133,101:234:99:2546,0,3619	20	0	1	0
chr12	66420771	66420771	G	C	exonic	GRIP1	.	nonsynonymous SNV	GRIP1:NM_001178074:exon14:c.C1631G:p.P544R	Fraser syndrome, Autosomal recessive	.	1	1509	11	1	0	13	0.00428901	.	.	332722	Fraser_syndrome_3|GRIP1-related_disorder|not_provided	MONDO:MONDO:0054739,MedGen:C4540040,OMIM:617667|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.827	P	0.778	P	0.000	D	1.000	D	1.64	L	-1.57	D	-0.617	T	0.309	T	0.875	0.426	6.316	5.16	2.797	7.030	17.315	0.113	0.0574034658443	.	0.00139776	0.0011	0.0001	0.0002	0	0	7.494e-05	0	0.0076	0.0009573	148	154602	rs200955760	0.0005	0.0005	0.0002	0.0007	0.0071	0.0004	0.0004	0.0067	0.0065	3.041e-05	0	0	2.532e-05	0	0.0005	3.243e-05	0.0003	0.0071	0.0002	0.0002	7.712e-05	0.0003	0.0062	0.0001	0.0001	0.0045	0.0039	0	0	0	0	0	0	0	0	0	0.0062	0.523	0.07895	T	0.39	0.16134	T	0.004	0.32740	B	0.025	0.45726	B	0.000000	0.84330	D	0.049883	0.999993	0.58761	D	1.435	0.35949	L	-1.57	0.81900	D	-3.78	0.71882	D	0.633	0.65673	-0.6169	0.64117	T	0.309	0.67940	T	9	0.010807812	0.00239	T	0.057403	0.66953	D	0.642	0.86384	0.483	0.56462	0.848690222601	0.84724	0.48321259946095213	0.48241	0.318195740285	0.34049	0.705433011055	0.67930	T	0.253207	0.62370	T	-0.0209587	0.48717	T	0.202245	0.83251	D	0.0575189814338341	0.06773	T	0.768423	0.44001	T	0.4725346	0.65446	0.3827097	0.63251	0.469466	0.65258	0.37295392	0.62493	-9.986	0.74425	D	0.2498314482915124	0.33818	0.309	0.53686	B	.;.;.;.;.	.;.;.;.;.	4.825698	0.78650	26.9	0.5805632515811604	0.05907	0.96921	0.71669	D	AEFI	0.750772	0.69179	D	0.377766024215754	0.60217	4.20847	0.433208908422237	0.63647	4.602519	0.80725428117441	0.24291	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.16	5.16	0.70563	6.102000	0.71139	9.822000	0.81809	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	17.315	0.87109	910	0.22284	.;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	577.98	43	chr12	66420771	.	G	C	577.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.321;DP=831;ExcessHet=0.0000;FS=0.960;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.89;ReadPosRankSum=-2.504e+00;SOR=0.922	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr12	66541927	66541927	C	T	exonic	GRIP1	.	nonsynonymous SNV	GRIP1:NM_001178074:exon3:c.G160A:p.V54I	Fraser syndrome, Autosomal recessive	.	2	1495	25	0	0	25	0.00829187	.	.	389156	Fraser_syndrome_3|not_specified|not_provided|Abnormal_brain_morphology	MONDO:MONDO:0054739,MedGen:C4540040,OMIM:617667|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	1.0	D	0.978	D	0.000	D	1.000	D	1.77	L	0.82	T	-0.705	T	0.268	T	0.466	3.767	19.12	5.36	2.698	7.782	19.465	0.236	0.0182897217256	0.0007	0.000399361	0.0012	0.0003	0.0014	0	0.0002	0.0016	0.0011	0.0013	0.001119	173	154602	rs199768740	0.0010	0.0010	0.0009	0.0010	0.0168	0.0009	0.0009	0.0141	0.0131	0.0003	0.0017	0.0063	0	3.744e-05	0.0168	0.0007	0.0020	0.0014	0.0009	0.0009	0.0009	0.0009	0.0016	0.0008	0.0007	0.0011	0.0010	0.0002	0	0.0016	0.0072	0	0	0.0136	0.0009	0.0033	0.0008	0.006	0.61437	D	0.015	0.61642	D	1.0	0.90584	D	0.978	0.74104	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.76	0.45711	L	0.82	0.48142	T	-0.69	0.24460	N	0.618	0.65930	-0.7051	0.60193	T	0.268	0.63950	T	9	0.010997534	0.00242	T	0.01829	0.40304	T	0.236	0.53931	.	.	0.431952752558	0.42816	0.3142456696913275	0.31337	0.415408216201	0.42198	0.571003317833	0.48820	T	0.28128	0.65400	T	-0.340646	0.05343	T	-0.29217	0.45547	T	0.827088177204132	0.48305	D	0.911709	0.69569	D	0.23895912	0.46780	0.115309395	0.27836	0.183039	0.39552	0.12022018	0.29014	-9.13	0.68530	D	0.370159556025135	0.46576	0.335	0.55590	B	.;.;.;.;.	.;.;.;.;.	3.536596	0.49643	22.8	0.997322703419811	0.82833	0.98409	0.82480	D	AEFI	0.912047	0.87216	D	0.434122937676274	0.63307	4.562121	0.345096248019264	0.58213	3.990521	0.999999982334639	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	7.905000	0.86479	7.702000	0.66341	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.004000	0.06068	0.0:1.0:0.0:0.0	19.465	0.94927	721	0.55360	.;PDZ domain;PDZ domain;PDZ domain;PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1167.98	36	chr12	66541927	.	C	T	1167.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.62;ReadPosRankSum=-1.736e+00;SOR=0.751	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr12	68315024	68315024	C	T	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_001354974:exon8:c.G583A:p.G195S	.	.	404	1110	8	0	0	8	0.00359066	.	.	2357063	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.338	B	0.115	B	0.830	U	1.000	D	1.01	L	2.04	T	-1.105	T	0.043	T	0.059	0.719	7.828	3.31	1.122	0.953	10.861	0.023	0.00541390108865	0.0002	.	0.0001	0	0.0003	0	0	0.0002	0	6.057e-05	0.00011	17	154602	rs144852918	0.0001	0.0001	0.0001	0.0001	0.0016	0.0001	0.0001	0.0008	0.0006	0	0.0006	0.0005	0	1.872e-05	0.0016	9.532e-05	0.0002	0.0002	0.0001	0.0001	0.0001	6.728e-05	0.0003	6.514e-05	5.325e-05	0.0001	7.894e-05	0	0	0.0003	0	0	0	0	0.0002	0	0	0.479	0.08384	T	0.748	0.04877	T	0.338	0.33405	B	0.115	0.31843	B	0.829914	0.06936	U	1.198670	0.999792	0.20333	N	0.205	0.09354	N	2.04	0.20808	T	0.07	0.06138	N	0.109	0.11197	-1.1055	0.03486	T	0.043	0.18618	T	9	0.05632651	0.06297	T	0.005414	0.13893	T	0.023	0.04649	.	.	0.0762999501168	0.06990	0.06914594770923387	0.06852	0.0655717025688	0.07314	0.243989020586	0.03161	T	0.049687	0.28379	T	-0.566963	0.00231	T	-0.71803	0.04891	T	0.0154180391318784	0.00346	T	0.662034	0.27102	T	0.06483477	0.13796	0.06837326	0.14270	0.06483477	0.13796	0.06837326	0.14270	-3.174	0.12165	T	.	.	0.077	0.10739	B	.;.	.;.	1.451049	0.18718	13.89	0.28380979477497476	0.01454	0.20724	0.21145	N	AEFBI	0.074720	0.14985	N	-0.729873752788828	0.15185	0.7631115	-0.755862520560692	0.15578	0.8200134	0.657769230049849	0.22236	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.21	3.31	0.37025	0.974000	0.29033	0.946000	0.22888	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.9056:0.0:0.0944	10.861	0.46034	925	0.17918	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	6818.08	44	chr12	68315024	.	C	T	6818.08	.	AC=2;AF=0.048;AN=42;DP=1203;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.47;SOR=0.856	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	1	0	0
chr12	68315054	68315054	C	T	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_001354974:exon8:c.G553A:p.D185N	.	.	.	.	.	.	.	.	.	.	.	2725896	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.221	B	0.033	B	0.646	N	1.000	N	0.55	N	2.0	T	-0.987	T	0.025	T	0.037	-0.180	3.125	-0.529	-0.218	0.930	5.376	0.014	0.00151025538646	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1228408527	7.525e-06	7.524e-06	9.528e-06	5.5e-06	2.987e-05	4.04e-06	2.95e-06	4.55e-06	3.32e-06	2.987e-05	0	0	0	0	0	8.993e-06	0	0	6.569e-06	6.563e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.405	0.10311	T	0.329	0.18617	T	0.221	0.30336	B	0.01	0.14941	B	0.646279	0.10554	N	0.844596	1	0.08975	N	0	0.06538	N	2.0	0.21473	T	-0.2	0.10136	N	0.104	0.14622	-0.9869	0.33371	T	0.025	0.10643	T	9	0.05858156	0.06910	T	0.00151	0.02343	T	0.014	0.01968	0.238	0.16912	0.0297737177859	0.01360	0.02961286069196749	0.02910	0.0481602307982	0.05259	0.279046833515	0.07360	T	0.017805	0.14461	T	-0.388783	0.02739	T	-0.780751	0.02431	T	0.0366765771395218	0.03098	T	0.530047	0.17581	T	0.031803608	0.03088	0.024364999	0.00454	0.031803608	0.03087	0.024364999	0.00454	-4.132	0.25877	T	.	.	0.069	0.04316	B	.;.	.;.	0.566699	0.09351	6.133	0.85240960411871092	0.15771	0.03530	0.08719	N	AEFBI	0.036206	0.04786	N	-1.14442591252093	0.05872	0.2688437	-1.27193761571658	0.04814	0.2279789	0.0380616760858381	0.14329	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	0.753	-0.529	0.11307	0.060000	0.14220	0.066000	0.14196	0.333000	0.19617	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.7511:0.0:0.2489	5.376	0.15468	926	0.17793	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	193.98	44	chr12	68315054	.	C	T	193.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.527e+00;DP=1064;ExcessHet=0.0000;FS=93.271;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.83;ReadPosRankSum=1.06;SOR=6.665	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr12	68315057	68315057	C	G	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_001354974:exon8:c.G550C:p.D184H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	B	0.027	B	0.325	N	1.000	N	0	N	1.97	T	-1.015	T	0.023	T	0.151	0.855	8.459	-6.78	-1.651	-0.672	9.908	0.012	0.00196230859428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.856e-05	0.0003	1.916e-05	1.795e-05	3e-05	1.271e-05	1.089e-05	1.303e-05	1.112e-05	3e-05	0	3.832e-05	0	0	0	1.99e-05	3.326e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.47745	D	0.101	0.39040	T	0.138	0.27452	B	0.027	0.21085	B	0.325098	0.04097	N	1.517130	1	0.08975	N	0	0.06538	N	1.97	0.22067	T	-1.32	0.33197	N	0.201	0.27910	-1.0150	0.25336	T	0.023	0.09741	T	9	0.071266085	0.10482	T	0.001962	0.03509	T	0.012	0.01476	0.126	0.03173	0.0138822411134	0.00435	0.061463803675946296	0.06086	0.108187199226	0.12199	0.297671884298	0.10055	T	0.036766	0.24227	T	-0.286019	0.10038	T	-0.648623	0.09051	T	0.0697529114174026	0.08617	T	0.270573	0.05606	T	0.052654143	0.09850	0.075408004	0.16598	0.052654143	0.09850	0.075408004	0.16598	-6.062	0.46795	T	.	.	0.091	0.13032	B	.;.	.;.	0.959842	0.13364	9.868	0.29956238085758846	0.01615	0.03517	0.08699	N	AEFBI	0.049707	0.08616	N	-1.74950743609334	0.00681	0.02937809	-1.83612441707929	0.00650	0.02891701	0.978128700104782	0.29889	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	3.74	-6.78	0.01559	-0.498000	0.06502	-0.543000	0.08571	-1.956000	0.00480	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.2332:0.1057:0.6611	9.908	0.40559	926	0.17793	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	187.98	44	chr12	68315057	.	C	G	187.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.378e+00;DP=1061;ExcessHet=0.0000;FS=91.130;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.80;ReadPosRankSum=1.57;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,99,1485	20	0	1	0
chr12	68315058	68315058	C	G	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_001354974:exon8:c.G549C:p.E183D	.	.	.	.	.	.	.	.	.	.	.	3289098	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.787	P	0.298	B	0.362	N	1.000	N	0.695	N	1.85	T	-1.038	T	0.030	T	0.197	1.425	10.70	-4.28	-1.138	-0.982	6.444	0.015	0.0162907195268	.	.	2.471e-05	0	8.637e-05	0.0001	0	1.498e-05	0	0	1.94e-05	3	154602	rs761653386	4.791e-06	4.105e-05	6.81e-06	2.751e-06	2.988e-05	1.99e-06	1.28e-06	3e-07	1.1e-07	2.988e-05	2.236e-05	0	2.519e-05	0	0	1.8e-06	1.656e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.30943	T	0.063	0.45110	T	0.787	0.44504	P	0.298	0.40966	B	0.362119	0.13654	N	0.695306	1	0.08975	N	0.695	0.17993	N	1.85	0.24472	T	-1.5	0.36586	N	0.15	0.24260	-1.0381	0.17893	T	0.030	0.12935	T	9	0.07497659	0.11530	T	0.016291	0.37474	T	0.015	0.02232	0.215	0.13498	0.0138822411134	0.00435	0.032169095193184616	0.03164	0.306213775915	0.32924	0.23284393549	0.02185	T	0.044178	0.26736	T	-0.391333	0.02638	T	-0.630771	0.10356	T	0.191752582788467	0.19947	T	0.378562	0.09103	T	0.14788155	0.33787	0.102234356	0.24496	0.14788155	0.33786	0.102234356	0.24495	-3.799	0.21433	T	.	.	0.082	0.10111	B	.;.	.;.	-0.285002	0.02684	0.347	0.962885943470556	0.29305	0.03546	0.08744	N	AEFBI	0.059913	0.11349	N	-0.982395159602214	0.08979	0.4231447	-1.1659861758829	0.06486	0.3123426	0.286705760964225	0.19044	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	3.74	-4.28	0.03475	-1.253000	0.02987	-1.467000	0.05373	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.056000	0.15673	0.0:0.322:0.1587:0.5193	6.444	0.21066	926	0.17793	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	228.98	44	chr12	68315058	.	C	G	228.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.597e+00;DP=1061;ExcessHet=0.0000;FS=93.801;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.98;ReadPosRankSum=1.38;SOR=6.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,99,1485	20	0	1	0
chr12	68315060	68315060	C	G	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_001354974:exon8:c.G547C:p.E183Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.928	P	0.408	B	0.362	N	1.000	N	1.245	L	1.84	T	-1.058	T	0.044	T	0.184	1.905	12.33	0.356	0.303	0.776	4.542	0.022	0.0207637212828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	1.3e-05	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.29158	T	0.161	0.31326	T	0.928	0.51611	P	0.408	0.44733	B	0.362119	0.13654	N	0.695306	1	0.08975	N	1.245	0.31408	L	1.84	0.24656	T	-0.95	0.25332	N	0.112	0.19861	-1.0585	0.12134	T	0.044	0.18783	T	9	0.07721999	0.12161	T	0.020764	0.43417	T	0.022	0.04323	0.227	0.15257	0.0138822411134	0.00435	0.0658389026380427	0.06522	0.318609977021	0.34082	0.230100348592	0.01975	T	0.024413	0.18453	T	-0.230759	0.16550	T	-0.569246	0.15520	T	0.169440805912018	0.18542	T	0.458254	0.13193	T	0.11869084	0.27959	0.050728	0.08021	0.11869084	0.27959	0.050728	0.08020	-5.997	0.46254	T	.	.	0.101	0.20117	B	.;.	.;.	1.564316	0.20031	14.56	0.95058437844600807	0.26083	0.11680	0.16792	N	AEFBI	0.062126	0.11922	N	-0.607554815234127	0.18717	0.9739345	-0.769743800062424	0.15238	0.8004049	0.0391899243322302	0.14382	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	3.56	0.356	0.15310	0.769000	0.26267	0.374000	0.17708	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.102000	0.18378	0.1533:0.6017:0.1499:0.095	4.542	0.11460	926	0.17793	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	222.98	44	chr12	68315060	.	C	G	222.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.241e+00;DP=1063;ExcessHet=0.0000;FS=92.784;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.94;ReadPosRankSum=1.98;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,99,1485	20	0	1	0
chr12	68315061	68315061	C	G	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_001354974:exon8:c.G546C:p.E182D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	B	0.011	B	0.204	N	1.000	N	0.6	N	1.92	T	-1.000	T	0.033	T	0.109	0.664	7.556	-0.395	0.019	-0.571	9.274	0.011	0.0031827643436	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.21884	T	0.359	0.17014	T	0.005	0.12996	B	0.011	0.15521	B	0.203767	0.16534	N	0.601628	1	0.08975	N	2.095	0.58118	M	1.92	0.23082	T	-1.65	0.39503	N	0.073	0.11054	-1.0002	0.29860	T	0.033	0.14117	T	9	0.052917123	0.05401	T	0.003183	0.06966	T	0.011	0.01250	0.161	0.06507	0.0138822411134	0.00435	0.037265768819089454	0.03673	0.0562031697788	0.06208	0.215513035655	0.01067	T	0.082096	0.36749	T	-0.300284	0.08633	T	-0.669114	0.07665	T	0.0426887050271034	0.04181	T	0.374863	0.09932	T	0.0684382	0.14910	0.07738928	0.17236	0.0684382	0.14910	0.07738928	0.17236	-4.467	0.31188	T	.	.	0.093	0.14201	B	.;.	.;.	0.414059	0.07849	4.546	0.87582068365062615	0.17331	0.04595	0.10248	N	AEFBI	0.041789	0.06400	N	-1.07124952976041	0.07177	0.332625	-1.12447118557157	0.07235	0.3511444	0.037332668385275	0.14292	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	3.56	-0.395	0.11811	-0.395000	0.07347	-4.699000	0.02027	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.111000	0.18785	0.0:0.668:0.0:0.332	9.274	0.36846	926	0.17793	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	216.98	44	chr12	68315061	.	C	G	216.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.985e+00;DP=1065;ExcessHet=0.0000;FS=94.723;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.91;ReadPosRankSum=1.82;SOR=6.665	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr12	68315063	68315063	C	G	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_001354974:exon8:c.G544C:p.E182Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.963	D	0.626	P	0.204	N	1.000	N	1.845	L	1.85	T	-1.076	T	0.078	T	0.118	1.625	11.39	2.66	0.835	0.016	7.710	0.029	0.00342059953463	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs750682129	6.84e-07	1.368e-06	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	6.574e-06	6.568e-06	1.285e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.18	0.21968	T	0.306	0.19972	T	0.963	0.55692	D	0.626	0.51600	P	0.203767	0.16534	N	0.601628	1	0.08975	N	2.095	0.58118	M	1.85	0.24472	T	-1.84	0.43149	N	0.183	0.25499	-1.0764	0.08063	T	0.078	0.31193	T	9	0.09465468	0.16848	T	0.003421	0.07694	T	0.029	0.06676	0.16	0.06396	0.0297737177859	0.01360	0.08663214562108784	0.08597	0.0609736430081	0.06783	0.215153425932	0.01049	T	0.177327	0.52758	T	-0.388779	0.02739	T	-0.614703	0.11606	T	0.210991099476814	0.21005	T	0.451055	0.13966	T	0.07431545	0.16670	0.054519583	0.09394	0.07431545	0.16669	0.054519583	0.09393	-5.716	0.43836	T	.	.	0.099	0.16756	B	.;.	.;.	1.411540	0.18270	13.64	0.97601516828540724	0.34853	0.08619	0.14523	N	AEFBI	0.062606	0.12045	N	-0.364199966981064	0.26753	1.462543	-0.553687562118745	0.20708	1.116928	0.121320329683277	0.16888	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	3.56	2.66	0.30672	0.164000	0.16359	1.308000	0.25520	0.599000	0.40250	0.001000	0.13787	0.172000	0.23351	0.112000	0.18829	0.0:0.786:0.0:0.214	7.710	0.27839	926	0.17793	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	229.98	44	chr12	68315063	.	C	G	229.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.465e+00;DP=1069;ExcessHet=0.0000;FS=97.380;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.96;ReadPosRankSum=2.15;SOR=6.735	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr12	68689014	68689014	C	T	exonic	NUP107	.	nonsynonymous SNV	NUP107:NM_020401:exon2:c.C61T:p.R21W,	Nephrotic syndrome, type 11, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	610462	Inborn_genetic_diseases|Premature_ovarian_insufficiency	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0001587,Human_Phenotype_Ontology:HP:0008209,Human_Phenotype_Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.998	D	0.65	P	0.003	N	1.000	D	1.7	L	.	.	-0.769	T	0.212	T	0.73	4.097	21.1	2.27	0.694	0.030	12.000	0.465	0.0153053235724	7.7e-05	.	4.12e-05	0	8.645e-05	0	0	5.996e-05	0	0	4.53e-05	7	154602	rs139309724	3.969e-05	4.104e-05	3.677e-05	4.264e-05	0.0003	3.114e-05	2.848e-05	0.0001	7.821e-05	2.988e-05	0.0002	0	0	0	0.0003	3.148e-05	8.283e-05	6.961e-05	9.196e-05	9.187e-05	5.14e-05	0.0001	0.0002	5.526e-05	4.363e-05	5.285e-05	2.835e-05	2.407e-05	0	0.0002	0	0	0	0	5.881e-05	0.0024	0.0002	0.002	0.72154	D	0.006	0.70582	D	0.998	0.73220	D	0.65	0.52463	P	0.002839	0.35868	N	0.254805	0.992658	0.81001	D	1.995	0.54099	M	.	.	.	-2.16	0.48850	N	0.232	0.26111	-0.7695	0.56885	T	0.212	0.57227	T	8	0.21016037	0.37401	T	0.015305	0.35967	T	0.465	0.76089	.	.	0.660518371735	0.65767	0.4101210851255669	0.40928	0.262777357294	0.28839	0.613216757774	0.54771	T	0.114287	0.43199	T	-0.0404425	0.45883	T	-0.0408235	0.67645	D	0.794149219989777	0.45961	D	0.934707	0.75503	D	0.11315154	0.26725	0.13431321	0.32187	0.11315154	0.26725	0.13431321	0.32186	-6.581	0.50907	T	.	.	0.18	0.39185	B	.	.	3.600370	0.50854	23.0	0.99909325615092537	0.97949	0.14177	0.18264	N	AEFBI	0.266659	0.38353	N	-0.00956716099439469	0.41421	2.477291	-0.0744395733602191	0.36450	2.121454	0.999692757282856	0.41870	0.660085	0.49399	0	0.662677	0.63036	0	0.643519	0.47002	0	0.645665	0.59343	0	.	.	5.45	2.27	0.27501	0.147000	0.16021	0.797000	0.21623	0.549000	0.26987	0.041000	0.21027	0.350000	0.24467	0.988000	0.63387	0.6002:0.3998:0.0:0.0	12.000	0.52518	689	0.59000	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1001.98	33	chr12	68689014	.	C	T	1001.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=0.376;SOR=0.791	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1251	20	0	1	0
chr12	68746654	68746654	C	T	exonic	SLC35E3	.	nonsynonymous SNV	SLC35E3:NM_001354997:exon1:c.C277T:p.L93F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.945	D	0.000	D	1.000	D	2.055	M	0.22	T	-0.540	T	0.305	T	0.892	3.310	17.13	4.07	1.185	4.562	9.363	0.360	0.0732958468284	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1190175388	5.472e-06	5.472e-06	1.361e-06	9.625e-06	7.194e-06	2.35e-06	1.7e-06	3.09e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	0	0	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.007	0.69154	D	0.999	0.77913	D	0.945	0.68163	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.83	0.82355	M	0.22	0.59851	T	-3.65	0.69950	D	0.832	0.82761	-0.5400	0.67163	T	0.305	0.67593	T	9	0.8296764	0.82134	D	0.073296	0.71752	D	0.360	0.68052	0.584	0.71118	0.761306548851	0.75913	0.7042637436232192	0.70368	0.496345723792	0.48149	0.790430426598	0.80508	T	0.267558	0.63960	T	0.290612	0.82205	D	0.179668	0.81976	D	0.991108179092407	0.81360	D	0.952505	0.81867	D	0.65004015	0.75366	0.55745494	0.74401	0.65004015	0.75367	0.55745494	0.74401	-7.448	0.57243	T	.	.	0.428	0.61077	A	.	.	3.921193	0.57248	23.8	0.99826610915505298	0.90852	0.92086	0.54913	D	ALL	0.445973	0.50222	N	0.379900800053829	0.60332	4.221152	0.291294471494866	0.55029	3.666553	0.99999999999858	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.98	4.07	0.46726	4.625000	0.60962	5.871000	0.50535	0.333000	0.19617	1.000000	0.71638	1.000000	0.68203	0.702000	0.34203	0.0:0.8316:0.0:0.1684	9.363	0.37371	883	0.28872	Sugar phosphate transporter domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2169.98	33	chr12	68746654	.	C	T	2169.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.523;DP=866;ExcessHet=0.0000;FS=1.207;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=-1.580e+00;SOR=0.563	GT:AD:DP:GQ:PL	0/1:84,84:168:99:2184,0,2196	20	0	1	0
chr12	69258588	69258588	A	C	splicing	CPSF6	NM_007007:exon6:c.695-2A>C;NM_001300947:exon7:c.806-2A>C	.	.	.	.	.	.	.	.	.	.	.	0.9999	0.946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.223	13.39	5.53	2.237	6.524	15.986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132532	0.67608	D	-0.0474037	0.67201	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	6.546865	0.95383	35	0.9925658129461985	0.57055	0.99559	0.97436	D	AEFBI	.	.	.	1.06827620712339	0.97500	16.23617	0.91311047384188	0.96119	14.32376	0.994028231221017	0.33455	0.256867	0.04430	0	0.271743	0.05004	0	0.320204	0.05785	0	0.221052	0.04502	0	0.962768	0.66769	5.53	5.53	0.82530	6.517000	0.73669	11.130000	0.86775	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	1.0:0.0:0.0:0.0	15.986	0.79947	878	0.29785	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	63.1	36	chr12	69258588	.	A	C	63.1	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-8.650e-01;DP=946;ExcessHet=0.1072;FS=49.726;InbreedingCoeff=-0.2449;MLEAC=4;MLEAF=0.222;MQ=60.00;MQRankSum=0.00;QD=0.62;ReadPosRankSum=2.53;SOR=5.749	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:36,0:36:0:.:.:0,0,558	7	0	2	12
chr12	69390302	69390302	G	A	exonic	YEATS4	.	nonsynonymous SNV	YEATS4:NM_001300950:exon5:c.G508A:p.A170T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.011	N	1.000	N	0	N	.	.	-1.023	T	0.037	T	0.023	-0.104	3.490	3.25	0.483	1.917	5.740	0.125	0.00318664363409	.	.	8.474e-06	0	0	0	0	1.53e-05	0	0	6.5e-06	1	154602	rs747470925	1.955e-05	2.052e-05	1.25e-05	2.668e-05	7.647e-05	1.356e-05	1.167e-05	2.027e-05	1.159e-05	0	0	0	7.647e-05	0	0	2.083e-05	1.693e-05	1.25e-05	1.315e-05	1.313e-05	0	2.691e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.471e-05	0	0.0002	0.744	0.05899	T	0.606	0.08245	T	0.0	0.02946	B	0.0	0.01387	B	0.011053	0.29681	N	0.407307	1.000	0.19694	N	0.205	0.09354	N	.	.	.	0.17	0.07444	N	0.022	0.00407	-1.0228	0.22802	T	0.037	0.16116	T	8	0.036257118	0.01915	T	0.003187	0.06996	T	0.125	0.34456	0.083	0.00760	0.0482279557977	0.04254	0.23945469953489432	0.23859	1.03848036312	0.75702	0.346135854721	0.17351	T	0.019478	0.15513	T	-0.316002	0.07230	T	-0.691691	0.06292	T	0.166448906064034	0.18335	T	0.70443	0.31478	T	0.026774859	0.01778	0.033521004	0.02260	0.026774859	0.01777	0.033521004	0.02260	-3.505	0.16501	T	.	.	0.058	0.00614	B	.;.	.;.	1.443749	0.18638	13.84	0.32174688923971356	0.01851	0.36310	0.25504	N	AEFBI	0.049994	0.08695	N	-0.616361404389212	0.18452	0.9581195	-0.410252859117624	0.24697	1.353843	0.999594022117322	0.40745	0.75658	0.98901	0	0.743671	0.97443	0	0.709663	0.75317	0	0.656636	0.63459	0	.	.	5.64	3.25	0.36363	1.904000	0.39498	6.141000	0.54053	-0.116000	0.14526	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.606:0.0:0.0768:0.3172	5.740	0.17357	928	0.17405	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	78.99	42	chr12	69390302	.	G	A	78.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.890e-01;DP=902;ExcessHet=0.0000;FS=29.734;InbreedingCoeff=-0.0252;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.84;ReadPosRankSum=1.22;SOR=5.134	GT:AD:DP:GQ:PL	0/1:31,12:43:93:93,0,618	20	0	1	0
chr12	69589489	69589489	G	A	exonic	CCT2	.	nonsynonymous SNV	CCT2:NM_001198842:exon7:c.G310A:p.D104N	.	.	.	.	.	.	.	.	.	.	.	1940243	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.012	B	0.026	B	0.000	D	1.000	D	0.535	N	-1.16	T	-0.762	T	0.265	T	0.115	2.717	15.05	6.07	2.884	5.995	14.751	0.303	0.0270601701004	7.7e-05	.	3.405e-05	0	0	0	0	6.221e-05	0	0	2.59e-05	4	154602	rs368079574	0.0001	0.0001	0.0001	0.0001	0.0002	9.877e-05	9.286e-05	0.0001	0.0001	2.988e-05	0	0	0	0	0.0002	0.0001	3.313e-05	2.32e-05	3.944e-05	3.941e-05	6.426e-05	1.346e-05	0.0001	1.716e-05	1.13e-05	2.262e-05	1.032e-05	7.242e-05	0	0.0001	0	0	0	0	1.471e-05	0	0	0.45	0.10148	T	0.333	0.18675	T	0.0	0.16265	B	0.011	0.20792	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	0.985	0.24966	L	-1.16	0.78082	T	-2.39	0.52612	N	0.397	0.45331	-0.7617	0.57313	T	0.265	0.63641	T	9	0.20184529	0.36283	T	0.02706	0.49911	D	0.303	0.62400	.	.	0.327946701059	0.32395	0.5527145008689935	0.55197	0.288619852598	0.31269	0.483582735062	0.36550	T	0.489675	0.81480	T	-0.218733	0.18165	T	-0.366067	0.37348	T	0.162692264295064	0.18068	T	0.891311	0.62583	D	0.26125774	0.49184	0.14473751	0.34353	0.26125774	0.49184	0.14473751	0.34352	-6.704	0.52148	T	.	.	0.088	0.12084	B	.;.;.	.;.;.	3.307812	0.45438	22.1	0.99675015693284696	0.78846	0.96630	0.70109	D	AEFBCI	0.824111	0.74407	D	0.0505399087645766	0.44168	2.695763	0.290202819706132	0.54966	3.660275	0.999999490904629	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.07	6.07	0.98675	6.163000	0.71702	6.656000	0.56232	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.0684:0.0:0.9316:0.0	14.751	0.69147	872	0.31118	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1101.98	33	chr12	69589489	.	G	A	1101.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=794;ExcessHet=0.0000;FS=1.746;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.11;ReadPosRankSum=0.425;SOR=0.902	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr12	70329445	70329445	G	C	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.G261C:p.R87S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.000	D	1.000	D	0.345	N	0.92	T	-1.057	T	0.062	T	0.889	2.525	14.40	5.5	2.586	5.433	17.588	0.205	0.0199199618014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.91255	T	0.606	0.92824	T	0.001	0.07471	B	0.001	0.04355	B	0.000002	0.62929	D	0.135296	1	0.81001	D	1.655	0.42436	L	0.9	0.45248	T	-0.27	0.81755	N	0.782	0.77883	-1.0570	0.12517	T	0.062	0.25744	T	10	0.30767742	0.48269	T	0.01992	0.42402	T	0.205	0.49236	0.376	0.38994	0.838669075583	0.83712	0.6548579403495524	0.65421	1.12346795644	0.78365	0.834287166595	0.87220	D	0.052155	0.31084	T	0.195589	0.73480	D	0.043173	0.73135	D	0.612958669662476	0.36920	D	0.974303	0.96130	D	0.2277501	0.45481	0.2625944	0.52053	0.2277501	0.45481	0.2625944	0.52052	-4.621	0.32435	T	.	.	0.975	0.90205	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.868160	0.56145	23.7	0.99070568821585203	0.51715	0.97563	0.75570	D	AEFBI	0.813048	0.73562	D	-0.250690058681778	0.31077	1.738953	0.00634029425290372	0.40007	2.380951	0.999999998541904	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	5.533000	0.66873	9.892000	0.82281	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.588	0.87887	716	0.55970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1010.98	33	chr12	70329445	.	G	C	1010.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.543e+00;DP=1030;ExcessHet=0.0000;FS=236.903;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.22;ReadPosRankSum=0.569;SOR=7.522	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:63,0:63:99:.:.:0,120,1800	20	0	1	0
chr12	70329450	70329450	T	C	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.T266C:p.M89T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.089	B	0.015	B	0.000	D	1.000	D	0.345	N	0.77	T	-1.055	T	0.070	T	0.9	2.394	13.96	5.5	2.090	7.698	14.188	0.286	0.0131236657606	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0024	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	9.366e-05	0	0	2.54e-05	0	0	0.0002	0.0001	5.893e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.72154	T	0.373	0.58613	T	0.089	0.25085	B	0.015	0.17295	B	0.000002	0.62929	D	0.156649	0.999987	0.54805	D	1.39	0.34934	L	0.75	0.50192	T	-1.37	0.73151	N	0.791	0.78737	-1.0546	0.13145	T	0.070	0.28609	T	10	0.3466993	0.51619	T	0.013124	0.32271	T	0.286	0.60456	0.221	0.14371	0.702063244252	0.69947	0.5511041298698888	0.55036	1.14100540041	0.78923	0.857781887054	0.90783	D	0.084111	0.37206	T	0.247529	0.78369	D	0.117782	0.78087	D	0.656853437423706	0.38758	D	0.789921	0.45805	T	0.21835071	0.44341	0.21838577	0.46539	0.21835071	0.44341	0.21838577	0.46538	-4.093	0.25187	T	.	.	0.581	0.70259	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.987872	0.58674	24.0	0.9772757362070762	0.35598	0.97687	0.76416	D	AEFBI	0.932963	0.92412	D	-0.161537160210571	0.34744	1.986992	0.0781611403978821	0.43451	2.64668	0.999999326455377	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	7.674000	0.83146	7.864000	0.71599	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	14.188	0.65156	716	0.55970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	1421.81	68	chr12	70329450	.	T	C	1421.81	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-1.134e+00;DP=1381;ExcessHet=0.1072;FS=373.187;InbreedingCoeff=-0.3637;MLEAC=6;MLEAF=1.00;MQ=60.00;MQRankSum=0.00;QD=6.55;ReadPosRankSum=0.748;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:68,0:68:0:.:.:0,0,1570	1	0	2	18
chr12	70329451	70329451	G	A	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.G267A:p.M89I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.0	B	0.0	B	0.000	D	1.000	D	0	N	0.96	T	-1.071	T	0.062	T	0.457	1.959	12.51	5.5	2.586	7.638	17.588	0.130	0.0103649765516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.043e-07	6.894e-07	1.406e-06	0	9.311e-07	0	0	.	.	0	0	0	0	0	0	9.311e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.41364	T	0.74	0.14725	T	0.0	0.02946	B	0.0	0.01387	B	0.000002	0.62929	D	0.156649	0.999898	0.50595	D	1.735	0.44892	L	0.94	0.43672	T	-0.39	0.57599	N	0.48	0.51851	-1.0708	0.09238	T	0.062	0.25708	T	10	0.23940006	0.41079	T	0.010365	0.26807	T	0.130	0.35528	0.277	0.23004	0.369524611565	0.36568	0.44334245260416183	0.44252	1.09812664247	0.77639	0.794959783554	0.81196	T	0.070289	0.33924	T	-0.0695512	0.41400	T	-0.337682	0.40607	T	0.759007751941681	0.43794	D	0.931607	0.77964	D	0.2108132	0.43389	0.21262307	0.45739	0.2108132	0.43389	0.21262307	0.45738	-3.813	0.20999	T	.	.	0.372	0.61506	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.889866	0.56592	23.8	0.97936597058958741	0.36999	0.97640	0.76089	D	AEFBI	0.924572	0.90281	D	-0.117543626066413	0.36629	2.119811	0.139756337599154	0.46603	2.903537	0.999961322651884	0.48965	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	7.758000	0.84076	11.794000	0.96459	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.588	0.87887	716	0.55970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	1418.14	68	chr12	70329451	.	G	A	1418.14	.	AC=2;AF=0.250;AN=8;BaseQRankSum=-1.967e+00;DP=1382;ExcessHet=0.1072;FS=373.187;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.625;MQ=60.00;MQRankSum=0.00;QD=6.54;ReadPosRankSum=0.684;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:68,0:68:0:.:.:0,0,1570	2	0	2	17
chr12	70353915	70353915	A	-	exonic	CNOT2	.	nonframeshift deletion	CNOT2:NM_001199303:exon16:c.1623delA:p.X541X	.	.	869	502	37	12	102	163	0.057277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	2294.56	31	chr12	70353913	.	TAA	T,TA,TAAA	2294.56	.	AC=9,8,4;AF=0.214,0.190,0.095;AN=42;BaseQRankSum=0.709;DP=1081;ExcessHet=11.2363;FS=0.442;InbreedingCoeff=-0.4297;MLEAC=8,8,3;MLEAF=0.190,0.190,0.071;MQ=60.00;MQRankSum=0.00;QD=8.40;ReadPosRankSum=-2.490e-01;SOR=0.744	GT:AD:DP:GQ:PL	0/2:6,4,6,1:17:24:104,24,212,0,67,95,135,153,98,317	3	0	8	0
chr12	70353915	70353915	-	A	exonic	CNOT2	.	nonframeshift insertion	CNOT2:NM_001199303:exon16:c.1623dupA:p.X541delinsX	.	.	869	502	37	12	102	163	0.057277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	2294.56	31	chr12	70353913	.	TAA	T,TA,TAAA	2294.56	.	AC=9,8,4;AF=0.214,0.190,0.095;AN=42;BaseQRankSum=0.709;DP=1081;ExcessHet=11.2363;FS=0.442;InbreedingCoeff=-0.4297;MLEAC=8,8,3;MLEAF=0.190,0.190,0.071;MQ=60.00;MQRankSum=0.00;QD=8.40;ReadPosRankSum=-2.490e-01;SOR=0.744	GT:AD:DP:GQ:PL	0/2:6,4,6,1:17:24:104,24,212,0,67,95,135,153,98,317	3	0	8	0
chr12	70635944	70635944	G	A	exonic	PTPRB	.	nonsynonymous SNV	PTPRB:NM_001109754:exon2:c.C178T:p.L60F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.777	P	0.396	B	.	.	1.000	D	0.55	N	0.89	T	-1.071	T	0.085	T	0.103	3.967	20.3	5.15	1.539	4.327	14.440	0.034	0.0214511850333	8e-05	.	8.491e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs372428385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.575e-06	6.567e-06	0	1.346e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.171	0.91255	T	0.141	0.47097	T	0.069	0.33860	B	0.063	0.32896	B	.	.	.	.	0.949216	0.26544	N	.	.	.	0.89	0.45636	T	-0.76	0.25770	N	0.274	0.33469	-1.0714	0.09108	T	0.085	0.33099	T	9	0.1482369	0.28075	T	0.021451	0.44220	T	0.034	0.08419	.	.	0.176862962021	0.17281	0.6354880301755313	0.63482	0.53492471946	0.50878	0.479680240154	0.36012	T	0.059314	0.33423	T	-0.220665	0.17902	T	-0.554746	0.16873	T	0.932623505592346	0.59881	D	0.69863	0.31478	T	.	.	.	.	.	.	.	.	-5.511	0.41971	T	.	.	0.473	0.64929	A	.;.;.;.	.;.;.;.	3.602507	0.50895	23.0	0.99859623691552357	0.93820	0.85685	0.44845	D	AEFDBHCI	0.862088	0.78030	D	-0.0241969775281813	0.40761	2.42629	0.155470530023144	0.47434	2.973584	0.999999999861969	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.00508	0.00061	3	.	.	6.04	5.15	0.70287	4.423000	0.59610	6.674000	0.56288	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.896000	0.43308	0.0711:0.0:0.9289:0.0	14.440	0.66887	670	0.60992	.;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	32.1	46	chr12	70635944	.	G	A	32.1	.	AC=4;AF=0.143;AN=28;BaseQRankSum=-3.245e+00;DP=1302;ExcessHet=0.6776;FS=145.640;InbreedingCoeff=-0.2101;MLEAC=3;MLEAF=0.107;MQ=60.00;MQRankSum=0.00;QD=0.11;ReadPosRankSum=1.01;SOR=9.657	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:66,0:66:0:.:.:0,0,955	10	0	4	7
chr12	70892825	70892825	C	T	exonic	PTPRR	.	nonsynonymous SNV	PTPRR:NM_002849:exon2:c.G211A:p.E71K,	.	.	10	1510	2	0	0	2	0.000661813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.0	B	0.0	B	0.731	U	1.000	N	0.345	N	3.94	T	-0.912	T	0.007	T	0.079	1.136	9.628	-2.76	-0.583	0.226	3.571	0.020	0.0125338330853	0.0003	0.000399361	0.0005	9.614e-05	0	0.0001	0	0.0003	0	0.0019	0.0003946	61	154602	rs200722098	0.0003	0.0003	0.0002	0.0004	0.0022	0.0003	0.0003	0.0019	0.0018	8.969e-05	0	0.0041	2.519e-05	0	0.0005	9.536e-05	0.0005	0.0022	0.0002	0.0002	0.0003	0.0002	0.0015	0.0002	0.0002	0.0007	0.0005	0.0001	0.0033	0	0.0023	0	9.448e-05	0	0.0002	0.0005	0.0015	0.342	0.12632	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.730884	0.06369	U	1.240670	1	0.08975	N	0.55	0.14455	N	3.94	0.03408	T	0.17	0.05125	N	0.116	0.10483	-0.9119	0.46620	T	0.007	0.02360	T	10	0.0082739	0.00188	T	0.012534	0.31184	T	0.020	0.03691	.	.	0.248417906384	0.24464	0.33146004115391026	0.33059	0.127839088004	0.14418	0.280235409737	0.07525	T	0.068234	0.33405	T	-0.68934	0.00042	T	-0.769441	0.02786	T	0.0215466549980477	0.00858	T	0.589941	0.21689	T	0.039905824	0.05599	0.045811728	0.06246	0.039905824	0.05598	0.045811728	0.06245	-3.553	0.17182	T	.	.	0.060	0.01011	B	.	.	0.482234	0.08519	5.279	0.98654873107447172	0.44247	0.06050	0.12020	N	AEFHCI	0.050690	0.08884	N	-1.11204997640791	0.06427	0.2958534	-1.14242947324733	0.06905	0.3339663	2.70873750868588E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.86	-2.76	0.05547	0.266000	0.18300	-0.035000	0.12744	-0.177000	0.10537	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1491:0.2582:0.4382:0.1545	3.571	0.07470	778	0.48011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1781.98	33	chr12	70892825	.	C	T	1781.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=825;ExcessHet=0.0000;FS=2.133;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=1.76;SOR=0.912	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr12	71535175	71535175	C	A	exonic	LGR5	.	nonsynonymous SNV	LGR5:NM_001277226:exon4:c.C417A:p.S139R	.	.	.	.	.	.	.	.	.	.	.	3280446	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	0.992	D	0.924	D	0.000	D	0.885	D	1.665	L	2.38	T	-0.547	T	0.267	T	0.695	3.284	17.03	3.35	1.478	0.108	9.839	0.184	0.0296604558512	.	.	8.254e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs779090996	1.31e-05	1.71e-05	9.62e-06	1.662e-05	3.008e-05	8.38e-06	6.75e-06	8.6e-06	6.96e-06	3.008e-05	0	0	0	0	0	1.453e-05	1.666e-05	1.163e-05	1.972e-05	2.627e-05	2.57e-05	1.345e-05	2.939e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.939e-05	0	0	0.192	0.24183	T	0.129	0.55759	T	0.992	0.64738	D	0.924	0.65913	D	0.000001	0.84330	D	0.000000	0.885084	0.35831	D	0.95	0.23787	L	2.38	0.60734	T	-2.63	0.61865	D	0.605	0.67304	-0.5470	0.66900	T	0.267	0.63855	T	10	0.5863887	0.66134	D	0.02966	0.52125	D	0.184	0.45763	0.482	0.56302	0.842777603526	0.84127	0.4800674328998772	0.47926	0.223555790711	0.24879	0.557286262512	0.46884	T	0.144253	0.48078	T	-0.0410765	0.45789	T	-0.19615	0.55010	T	0.930315673351288	0.59494	D	0.894311	0.63332	D	0.5998284	0.72682	0.42883787	0.66584	0.5998284	0.72683	0.42883787	0.66585	-10.851	0.78834	D	.	.	0.521	0.69419	A	.;.;.	.;.;.	3.149169	0.42619	21.6	0.997566594959443	0.84694	0.79981	0.39744	D	AEFBI	0.307978	0.41470	N	0.359692127579196	0.59252	4.103243	0.332577717823687	0.57463	3.912183	0.947867651521437	0.27773	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.55	3.35	0.37468	0.151000	0.16101	-0.026000	0.12859	0.599000	0.40250	0.995000	0.38783	0.772000	0.26708	0.989000	0.64315	0.0:0.7487:0.0:0.2513	9.839	0.40160	850	0.35610	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	856.98	35	chr12	71535175	.	C	A	856.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.083;DP=781;ExcessHet=0.0000;FS=0.890;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.58;ReadPosRankSum=-2.379e+00;SOR=0.924	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr12	71566906	71566906	A	G	exonic	LGR5	.	nonsynonymous SNV	LGR5:NM_001277226:exon10:c.A992G:p.Q331R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.006	B	0.012	N	0.978	D	0.075	N	5.58	T	-1.075	T	0.026	T	0.455	0.067	4.364	4.52	1.083	3.854	11.824	0.072	.	0.0005	0.00778754	0.0023	0.0012	8.679e-05	0.0307	0	0	0.0011	0.0004	0.0023221	359	154602	rs150655850	0.0007	0.0007	0.0007	0.0007	0.0191	0.0007	0.0006	0.0180	0.0175	0.0005	2.237e-05	0	0.0191	0	0	2.8e-05	0.0025	0.0005	0.0014	0.0014	0.0012	0.0016	0.0324	0.0013	0.0012	0.0284	0.0269	0.0009	0	6.544e-05	0	0.0324	0	0	4.412e-05	0.0009	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.006	0.12133	B	0.012065	0.29301	N	0.299629	0.978118	0.39431	D	-0.3	0.03631	N	5.58	0.41750	T	0.49	0.03521	N	0.526	0.55540	-1.0751	0.08328	T	0.026	0.11043	T	10	0.005159676	0.00112	T	.	.	.	0.072	0.21020	.	.	0.625762239502	0.62271	0.4160102817848351	0.41517	0.0659921320514	0.07365	0.519661903381	0.41579	T	0.076458	0.35424	T	-0.476118	0.00780	T	-0.430227	0.29911	T	0.0100332286049004	0.00134	T	0.579642	0.26183	T	0.18594132	0.39979	0.117359824	0.28330	0.18594132	0.39979	0.117359824	0.28329	-1.742	0.04446	T	.	.	0.079	0.09143	B	.;.;.	.;.;.	2.273401	0.29059	18.00	0.47804246023521174	0.03938	0.80701	0.40272	D	AEFDBHCI	0.550862	0.56317	D	-0.444727216300926	0.23919	1.287887	-0.199244393914788	0.31564	1.787526	0.99968561515664	0.41756	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.67	4.52	0.54797	5.261000	0.65314	5.986000	0.52250	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9314:0.0:0.0686:0.0	11.824	0.51532	835	0.38313	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	638.98	38	chr12	71566906	.	A	G	638.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.152e+00;DP=914;ExcessHet=0.0000;FS=2.850;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.80;ReadPosRankSum=1.18;SOR=0.420	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,102,1530	20	0	1	0
chr12	71577986	71577986	C	G	exonic	LGR5	.	nonsynonymous SNV	LGR5:NM_001277226:exon13:c.C1198G:p.L400V	.	.	433	1058	26	5	0	36	0.0167286	.	.	725271	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.98	D	0.000	D	0.968	D	3.19	M	3.5	T	-0.070	T	0.386	T	0.881	3.272	16.98	4.39	1.182	0.952	9.556	0.331	.	0.0052	0.0071885	0.0074	0.0011	0.0016	0.0005	0.0065	0.0071	0.0143	0.0202	0.0069533	1075	154602	rs138215571	0.0065	0.0066	0.0059	0.0071	0.0216	0.0064	0.0063	0.0207	0.0204	0.0007	0.0022	0.0010	0.0003	0.0055	0.0132	0.0060	0.0072	0.0216	0.0049	0.0049	0.0046	0.0052	0.0228	0.0046	0.0045	0.0193	0.0180	0.0011	0	0.0039	0.0006	0.0004	0.0051	0.0136	0.0065	0.0118	0.0228	0.003	0.68238	D	0.005	0.72224	D	0.998	0.73220	D	0.98	0.74843	D	0.000287	0.46274	D	0.000000	0.96767	0.38609	D	3.065	0.87014	M	3.5	0.66113	T	-2.43	0.55339	N	0.764	0.81162	-0.0696	0.80789	T	0.386	0.74136	T	10	0.007958859	0.00181	T	.	.	.	0.331	0.65325	.	.	0.935978234382	0.93531	0.7107525724361232	0.71017	0.344829867764	0.36407	0.516217410564	0.41094	T	0.456447	0.79521	T	-0.0760579	0.40353	T	0.134228	0.79166	D	0.0618834212141487	0.07462	T	0.835216	0.84482	T	0.6065306	0.73042	0.33984563	0.59744	0.6065306	0.73043	0.33984563	0.59743	-8.579	0.64950	D	.	.	0.152	0.39999	B	.;.;.	.;.;.	3.077795	0.41394	21.3	0.99826733912632593	0.90939	0.91336	0.53328	D	AEFBCI	0.519773	0.54491	D	0.602347789383223	0.73322	5.94738	0.507271652457146	0.68478	5.225638	0.195574354562646	0.18054	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.31	4.39	0.52211	0.971000	0.28993	3.258000	0.37072	0.599000	0.40250	0.936000	0.32490	1.000000	0.68203	0.952000	0.50033	0.0:0.8349:0.0:0.1651	9.556	0.38506	869	0.31655	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1617.98	33	chr12	71577986	.	C	G	1617.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.542e+00;DP=813;ExcessHet=0.0000;FS=3.490;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=-8.600e-02;SOR=1.071	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1384	20	0	1	0
chr12	71620060	71620060	G	C	exonic	ZFC3H1	.	nonsynonymous SNV	ZFC3H1:NM_144982:exon26:c.C4915G:p.L1639V,	.	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.993	D	0.757	P	0.000	D	1.000	D	0.895	L	1.4	T	-1.101	T	0.096	T	0.366	2.631	14.76	3.39	0.452	0.572	9.360	0.125	0.00931088667361	8.4e-05	0.000199681	0.0006	0	0	0	0.0039	0.0006	0.0034	0.0002	0.0005175	80	154602	rs201291512	0.0004	0.0004	0.0004	0.0004	0.0012	0.0004	0.0003	0.0006	0.0004	2.988e-05	0.0004	3.827e-05	0	0.0052	0.0012	0.0002	0.0007	0.0001	0.0004	0.0004	0.0003	0.0004	0.0004	0.0003	0.0003	0.0001	0.0001	0	0	0.0001	0	0	0.0031	0.0034	0.0002	0.0005	0.0004	0.035	0.43708	D	0.027	0.55341	D	0.993	0.65571	D	0.757	0.56292	P	0.000368	0.45194	D	0.112182	0.885666	0.35843	D	1.935	0.51832	L	1.4	0.33630	T	-0.63	0.18459	N	0.494	0.52740	-1.1014	0.03926	T	0.096	0.36029	T	10	0.009906948	0.00222	T	0.009311	0.24436	T	0.125	0.34456	.	.	0.043077524339	0.03247	0.29218768113213767	0.29131	1.10822079125	0.77962	0.463870704174	0.33841	T	0.038789	0.24963	T	-0.386316	0.02841	T	-0.410724	0.32140	T	0.0555167734656125	0.06443	T	0.879112	0.59504	D	0.07757025	0.17613	0.08656059	0.20063	0.07757025	0.17613	0.08656059	0.20062	-4.109	0.25423	T	.	.	0.185	0.39999	B	.	.	2.402805	0.30868	18.57	0.99731290443101306	0.82761	0.85226	0.44340	D	AEFBI	0.233161	0.35613	N	-0.0321292805942994	0.40403	2.398852	-0.0184520718419385	0.38883	2.297205	0.902991742793601	0.26141	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.71	3.39	0.37919	0.496000	0.22207	1.595000	0.27551	-0.116000	0.14526	0.993000	0.37899	0.531000	0.25362	0.943000	0.48514	0.8527:0.0:0.1473:0.0	9.360	0.37351	873	0.30802	Tetratricopeptide repeat-containing domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1519.98	37	chr12	71620060	.	G	C	1519.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.815e+00;DP=919;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-2.193e+00;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,102,1443	20	0	1	0
chr12	71697372	71697372	A	G	exonic	TMEM19	.	nonsynonymous SNV	TMEM19:NM_018279:exon4:c.A475G:p.I159V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.041	B	0.056	B	0.000	D	0.999	D	1.5	L	.	.	-0.857	T	0.195	T	0.206	0.468	6.541	5.94	2.275	5.845	16.407	0.091	0.00223294333776	.	.	8.244e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs776185157	1.371e-05	1.368e-05	1.637e-05	1.102e-05	0.0002	8.95e-06	7.28e-06	9.32e-06	7.62e-06	3.009e-05	0	0	0	0	0.0002	1.53e-05	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	0.30235	T	0.216	0.26226	T	0.041	0.21357	B	0.056	0.26147	B	0.000021	0.62929	D	0.183563	0.999393	0.46900	D	1.115	0.28702	L	.	.	.	-0.06	0.09297	N	0.474	0.50958	-0.8569	0.51484	T	0.195	0.54956	T	9	0.17153725	0.31878	T	0.002233	0.04233	T	0.091	0.26358	0.355	0.35571	0.0138822411134	0.00435	0.6274295513124305	0.62675	0.0506834317996	0.05566	0.582865834236	0.50488	T	0.007743	0.07126	T	-0.119261	0.33243	T	-0.393601	0.34130	T	0.176294931239628	0.18998	T	0.908009	0.78384	D	0.038606588	0.05176	0.06342399	0.12561	0.038606588	0.05176	0.06342399	0.12561	-3.928	0.26301	T	.	.	0.110	0.28664	B	.;.;.;.;.	.;.;.;.;.	1.727870	0.21993	15.44	0.89078255149902963	0.18493	0.97512	0.75231	D	AEFBI	0.756626	0.69583	D	-0.0275454838502248	0.40611	2.414694	0.174813042435382	0.48471	3.06257	0.999911936034397	0.45857	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.94	5.94	0.96165	5.838000	0.69097	6.912000	0.56902	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	1.0:0.0:0.0:0.0	16.407	0.83529	887	0.27948	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1371.98	35	chr12	71697372	.	A	G	1371.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.09;DP=782;ExcessHet=0.0000;FS=3.016;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.73;ReadPosRankSum=-9.760e-01;SOR=0.951	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1035	20	0	1	0
chr12	71699085	71699085	T	G	exonic	TMEM19	.	nonsynonymous SNV	TMEM19:NM_018279:exon5:c.T823G:p.L275V,	.	.	429	1072	21	0	0	21	0.00969977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	D	0.818	P	0.000	D	1.000	D	2.16	M	.	.	-0.645	T	0.217	T	0.8	2.680	14.92	3.69	1.112	2.220	9.465	0.145	0.0351813460054	0.0056	0.00159744	0.0052	0.0007	0.0029	0	0.0015	0.0070	0.0066	0.0065	0.0051358	794	154602	rs145012054	0.0059	0.0059	0.0059	0.0060	0.0120	0.0058	0.0058	0.0097	0.0089	0.0006	0.0030	0.0165	0	0.0020	0.0120	0.0062	0.0066	0.0076	0.0043	0.0043	0.0041	0.0044	0.0062	0.0040	0.0039	0.0057	0.0055	0.0014	0	0.0035	0.0173	0	0.0016	0.0068	0.0062	0.0061	0.0048	0.003	0.68238	D	0.046	0.49120	D	0.568	0.70673	P	0.166	0.58969	B	0.000080	0.52346	D	0.073167	0.999982	0.54805	D	2.475	0.71894	M	.	.	.	-2.77	0.58733	D	0.807	0.80278	-0.6447	0.62944	T	0.217	0.57902	T	8	0.014507443	0.00305	T	0.035181	0.56172	D	0.250	0.55888	.	.	0.107399877778	0.10242	0.9057006794600863	0.90543	0.317847215541	0.34018	0.5352191329	0.43770	T	0.270176	0.64242	T	-0.103541	0.35838	T	0.0836211	0.75820	D	0.0206278004675064	0.00762	T	0.945605	0.85339	D	0.33984637	0.56267	0.3509122	0.60694	0.33984637	0.56267	0.3509122	0.60693	-7.335	0.69883	T	.	.	0.226	0.52671	B	.;.;.	.;.;.	2.978086	0.39716	21.0	0.99333427364098725	0.59856	0.94587	0.61652	D	AEFDBHI	0.433414	0.49488	N	0.267850151330828	0.54528	3.618044	0.295395940576656	0.55271	3.690213	0.994122170462301	0.33498	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.06	3.69	0.41483	2.230000	0.42644	1.540000	0.27221	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.997000	0.79791	0.0:0.1402:0.0:0.8598	9.465	0.37971	889	0.27310	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1213.98	33	chr12	71699085	.	T	G	1213.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.229e+00;DP=794;ExcessHet=0.0000;FS=0.729;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.94;ReadPosRankSum=0.829;SOR=0.592	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1170	20	0	1	0
chr12	71923175	71923175	T	A	exonic	TBC1D15	.	nonsynonymous SNV	TBC1D15:NM_001146213:exon17:c.T1996A:p.S666T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.011	B	0.014	B	0.656	N	1.000	N	0	N	3.42	T	-0.913	T	0.011	T	0.094	0.894	8.630	4.04	0.770	1.235	1.938	0.059	0.00715669205627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.38407	T	0.359	0.17425	T	0.011	0.15914	B	0.014	0.16862	B	0.655712	0.10472	N	0.850231	0.999922	0.19486	N	1.1	0.28011	L	3.42	0.05642	T	-0.2	0.10308	N	0.049	0.19593	-0.9135	0.46415	T	0.011	0.03903	T	10	0.060584843	0.07465	T	0.007157	0.18979	T	0.059	0.16972	0.33	0.31519	0.383760037723	0.37989	0.262734963799944	0.26186	0.158246879957	0.17873	0.284471303225	0.08124	T	0.017575	0.14314	T	-0.311293	0.07634	T	-0.684927	0.06687	T	0.0354230283886382	0.02880	T	0.721228	0.33447	T	0.049351126	0.08750	0.048093356	0.07070	0.049351126	0.08749	0.048093356	0.07069	-4.112	0.25540	T	.	.	0.064	0.02118	B	.;.;.	.;.;.	1.580882	0.20228	14.65	0.84418340552977655	0.15280	0.31184	0.24273	N	AEFGBI	0.163435	0.28971	N	-0.634620249376785	0.17910	0.9257203	-0.461240084984138	0.23231	1.265797	0.00274426865584768	0.09676	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.91	4.04	0.46262	1.275000	0.32748	2.651000	0.33816	0.665000	0.62972	0.376000	0.25973	1.000000	0.68203	0.853000	0.40368	0.1603:0.4996:0.1564:0.1837	1.938	0.03138	837	0.37933	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2211.98	37	chr12	71923175	.	T	A	2211.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.400e-01;DP=852;ExcessHet=0.0000;FS=2.923;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.09;ReadPosRankSum=-5.500e-02;SOR=0.963	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1176	20	0	1	0
chr12	75050500	75050500	T	G	exonic	KCNC2	.	nonsynonymous SNV	KCNC2:NM_001260497:exon3:c.A1505C:p.Q502P	.	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.993	D	0.769	P	0.047	N	1.000	D	1.385	L	-4.37	D	0.794	D	0.881	D	0.761	2.169	13.21	4.9	1.070	5.166	12.357	0.636	0.13166270549	7.7e-05	0.000599042	0.0006	0	0.0003	0	0.0002	0.0003	0.0011	0.0027	0.0005239	81	154602	rs201880430	0.0003	0.0003	0.0002	0.0003	0.0025	0.0003	0.0003	0.0023	0.0022	0	0.0002	0.0003	5.039e-05	7.489e-05	0.0005	0.0001	0.0005	0.0025	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	9.245e-05	0.0008	0.0006	4.817e-05	0	0.0002	0.0009	0	0	0	0.0001	0	0.0017	0.042	0.43708	D	0.075	0.43721	T	0.022	0.65571	B	0.045	0.56777	B	0.047381	0.23351	N	0.412335	0.999969	0.52935	D	1.755	0.45626	L	-4.4	0.97444	D	-2.52	0.55501	D	0.545	0.62442	0.794	0.94334	D	0.881	0.96052	D	10	0.017092079	0.00363	T	0.131663	0.81393	D	0.636	0.86078	.	.	0.827528949762	0.82590	0.724287530055627	0.72372	1.88409368239	0.92644	0.578383088112	0.49858	T	0.291554	0.66430	T	-0.0188492	0.49018	T	0.196157	0.82918	D	0.0687034698322956	0.08468	T	0.911409	0.69449	D	0.43796042	0.63270	0.4250014	0.66322	0.43796042	0.63271	0.4250014	0.66323	-8.087	0.63418	D	.	.	0.067	0.03093	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.167574	0.42947	21.6	0.98214299226666169	0.39237	0.96429	0.69096	D	AEFDI	0.911166	0.87006	D	0.0386268475719433	0.43620	2.651	0.187733779273569	0.49175	3.123806	0.625636935611295	0.21923	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.06	4.9	0.63643	5.146000	0.64688	6.520000	0.55830	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.13:0.0:0.0:0.87	12.357	0.54507	928	0.17405	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1288.98	37	chr12	75050500	.	T	G	1288.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.680e-01;DP=845;ExcessHet=0.0000;FS=5.877;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.41;ReadPosRankSum=-9.850e-01;SOR=0.934	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1207	20	0	1	0
chr12	75293265	75293265	-	TATTTGAT	exonic	CAPS2	.	stopgain	CAPS2:NM_001355026:exon8:c.792_793insATCAAATA:p.A265Ifs*3	.	.	438	1072	12	0	0	12	0.00556586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0045	0.00299521	0.0058	0.0008	0.0029	0.0001	0.0112	0.0068	0.0099	0.0074	0.0003458	9	26028	rs535656542	0.0062	0.0064	0.0061	0.0064	0.0065	0.0061	0.0061	0.0064	0.0063	0.0008	0.0027	0.0030	0	0.0127	0.0030	0.0065	0.0060	0.0065	0.0051	0.0051	0.0053	0.0049	0.0072	0.0048	0.0047	0.0067	0.0065	0.0011	0.0022	0.0057	0.0035	0.0004	0.0090	0	0.0072	0.0076	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1792.94	34	chr12	75293265	.	C	CTATTTGAT	1792.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=799;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.58;ReadPosRankSum=-1.780e-01;SOR=0.711	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1034	20	0	1	0
chr12	75391267	75391267	G	A	exonic	GLIPR1L2	.	nonsynonymous SNV	GLIPR1L2:NM_001270396:exon1:c.G151A:p.V51I	.	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.086	B	0.008	B	0.106	N	1.000	D	0.46	N	2.99	T	-0.993	T	0.016	T	0.128	1.803	11.99	2.88	1.174	0.942	7.532	0.014	0.00400623964211	0.0021	0.000399361	0.0026	0.0006	0.0015	0	0.0017	0.0040	0.0033	0.0007	0.0024321	376	154602	rs146467128	0.0030	0.0030	0.0031	0.0030	0.0047	0.0030	0.0029	0.0033	0.0033	0.0006	0.0018	0.0076	2.519e-05	0.0013	0.0047	0.0034	0.0030	0.0006	0.0021	0.0021	0.0022	0.0020	0.0036	0.0019	0.0019	0.0032	0.0031	0.0005	0	0.0009	0.0075	0	0.0007	0.0034	0.0036	0.0038	0.0002	0.175	0.22400	T	0.176	0.29843	T	0.086	0.24919	B	0.008	0.13708	B	0.105615	0.19650	N	0.513006	1	0.81001	D	0.695	0.17993	N	2.99	0.09262	T	-0.78	0.23590	N	0.195	0.22098	-0.9926	0.31933	T	0.016	0.06473	T	10	0.003818214	0.00072	T	0.004006	0.09493	T	0.014	0.01968	.	.	0.270001397563	0.26616	0.22744089038220763	0.22659	0.0379314049417	0.04027	0.466479957104	0.34198	T	0.01303	0.11342	T	-0.51654	0.00461	T	-0.516223	0.20678	T	0.0304025773741608	0.02052	T	0.611839	0.25562	T	0.055617258	0.10834	0.09886479	0.23584	0.055617258	0.10833	0.09886479	0.23584	-3.799	0.21373	T	.	.	0.115	0.23535	B	.;.;.	.;.;.	1.938200	0.24616	16.46	0.98798855272062636	0.46413	0.36009	0.25434	N	ALL	0.083016	0.16816	N	-0.605943996161877	0.18765	0.9768618	-0.483843414062275	0.22598	1.228215	0.999999999999999	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	3.77	2.88	0.32617	0.956000	0.28799	3.523000	0.38910	-0.119000	0.14319	0.681000	0.28448	0.996000	0.32793	0.940000	0.48062	0.1167:0.0:0.8833:0.0	7.532	0.26858	894	0.26265	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1727.98	35	chr12	75391267	.	G	A	1727.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.79;DP=855;ExcessHet=0.0000;FS=0.616;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.08;ReadPosRankSum=0.907;SOR=0.622	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1283	20	0	1	0
chr12	76031521	76031521	C	T	exonic	PHLDA1	.	nonsynonymous SNV	PHLDA1:NM_007350:exon1:c.G221A:p.R74K,	.	.	419	1100	3	0	0	3	0.00136178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.003	B	0.006	B	.	.	0.998	N	0.69	N	0.78	T	-1.033	T	0.035	T	0.091	2.993	15.98	3.56	1.050	0.686	10.803	0.046	.	0.0014	0.00738818	0.0024	0.0379	0.0022	0	0	0	0	0	0.0007697	119	154602	rs189197382	0.0004	0.0004	0.0004	0.0003	0.0139	0.0003	0.0003	0.0127	0.0123	0.0139	0.0006	0	0	0	0.0007	9.329e-06	0.0009	1.329e-05	0.0032	0.0032	0.0033	0.0031	0.0113	0.0030	0.0029	0.0104	0.0101	0.0113	0	0.0010	0	0	0	0.0103	4.413e-05	0	0	0.023	0.48186	D	0.324	0.18903	T	0.003	0.11197	B	0.006	0.12133	B	.	.	.	.	0.997831	0.22484	N	0.55	0.14455	N	0.78	0.49358	T	-0.26	0.11185	N	0.265	0.30004	-1.0334	0.19363	T	0.035	0.15030	T	9	0.0043812096	0.00089	T	.	.	.	0.046	0.12618	.	.	0.549504238362	0.54606	0.21013222864665462	0.20929	0.928427692888	0.71722	0.896257638931	0.96014	D	0.026965	0.19847	T	-0.56285	0.00244	T	-0.568947	0.15545	T	0.0170639004550477	0.00453	T	0.448855	0.12628	T	0.23247918	0.46036	0.30734485	0.56757	0.23247918	0.46036	0.30734485	0.56756	-5.575	0.42563	T	.	.	0.228	0.48428	B	.;.	.;.	3.335531	0.45935	22.2	0.98368071808550217	0.40719	0.12855	0.17520	N	AEFGBHCIJ	0.228734	0.35236	N	-0.454203473610863	0.23598	1.268336	-0.342805826459707	0.26732	1.478487	1.0	0.98316	0.441713	0.08003	0	0.218748	0.04544	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.46	3.56	0.39892	1.460000	0.34855	7.309000	0.58118	0.524000	0.24156	0.856000	0.30544	1.000000	0.68203	0.982000	0.59238	0.19:0.81:0.0:0.0	10.803	0.45704	838	0.37812	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	719.98	35	chr12	76031521	.	C	T	719.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.170e-01;DP=857;ExcessHet=0.0000;FS=2.323;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.33;ReadPosRankSum=1.00;SOR=0.498	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1022	20	0	1	0
chr12	76059802	76059802	A	G	exonic	NAP1L1	.	nonsynonymous SNV	NAP1L1:NM_001330232:exon4:c.T236C:p.I79T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.741	P	0.287	B	0.000	D	1.000	D	0.505	N	1.0	T	-1.072	T	0.067	T	0.312	2.059	12.84	5.49	2.213	9.009	12.985	0.154	0.0140890462673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.298e-05	0.0001	1.007e-05	1.59e-05	3.167e-05	8.11e-06	6.69e-06	6.9e-06	5.32e-06	3.167e-05	0	0	0	0	0	1.237e-05	3.459e-05	2.454e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.58626	T	0.515	0.10643	T	0.741	0.42992	P	0.232	0.40572	B	0.000212	0.47681	D	0.219991	0.940363	0.81001	D	1.35	0.33515	L	1.0	0.41392	T	-1.96	0.50666	N	0.224	0.26111	-1.0717	0.09043	T	0.067	0.27708	T	10	0.21725681	0.38332	T	0.014089	0.33970	T	0.154	0.40340	0.451	0.51285	0.265735104816	0.26182	0.28783724609276506	0.28696	0.828852337507	0.67540	0.57043671608	0.48739	T	0.091695	0.38850	T	-0.0750447	0.40518	T	-0.345573	0.39712	T	0.783953189849854	0.45299	D	0.659534	0.37862	T	0.10568608	0.24989	0.1311999	0.31509	0.10568608	0.24989	0.1311999	0.31508	-8.678	0.65603	D	.	.	0.270	0.65692	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.388031	0.67691	25.1	0.9712404844935334	0.32469	0.99811	0.99622	D	AEFBI	0.923144	0.89919	D	0.0872240292922002	0.45869	2.836197	0.26620784129639	0.53577	3.525932	0.999999917027058	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.49	5.49	0.81022	9.263000	0.94779	11.266000	0.91241	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.8656:0.1344:0.0:0.0	12.985	0.57988	934	0.15400	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	575.92	35	chr12	76059802	.	A	G	575.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.663e+00;DP=1238;ExcessHet=0.6776;FS=149.322;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=1.36;ReadPosRankSum=-1.420e-01;SOR=9.129	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,32:103:99:0|1:76059802_A_G:345,0,1775:76059802	17	0	4	0
chr12	76389653	76389653	G	C	exonic	OSBPL8	.	nonsynonymous SNV	OSBPL8:NM_001319655:exon9:c.C1269G:p.F423L	.	.	431	1084	7	0	0	7	0.00321839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.012	B	0.000	D	1.000	D	-1.77	N	2.12	T	-0.988	T	0.013	T	0.737	0.829	8.341	5.02	1.511	3.256	12.948	0.179	0.013807415709	.	.	0.0002	0	8.663e-05	0	0	0.0002	0	0.0005	0.0001294	20	154602	rs747923909	5.657e-05	5.883e-05	3.368e-05	7.983e-05	0.0005	4.627e-05	4.287e-05	0.0004	0.0003	0	0.0001	0	0	0	0.0005	2.479e-05	0.0001	0.0005	2.629e-05	2.627e-05	2.57e-05	2.691e-05	0.0002	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.012	0.16012	B	0.000000	0.84330	D	0.000000	1	0.81001	D	-1.745	0.00325	N	2.12	0.19726	T	1.76	0.00537	N	0.411	0.45520	-0.9880	0.33102	T	0.013	0.05033	T	10	0.08488247	0.14273	T	0.013807	0.33491	T	0.179	0.44899	0.54	0.65161	0.492909346147	0.48925	0.7459341502733289	0.74539	0.435919991296	0.43696	0.904340982437	0.96906	D	0.02473	0.18628	T	-0.223672	0.17494	T	-0.258742	0.48951	T	0.0531317368347167	0.06042	T	0.929807	0.74042	D	0.18143411	0.39313	0.11810043	0.28508	0.18143411	0.39312	0.11810043	0.28508	0.079	0.00322	T	.	.	0.683	0.72270	P	.;.;.;.;.;.	.;.;.;.;.;.	2.961681	0.39448	21.0	0.77134082044541274	0.11750	0.96644	0.70182	D	AEFBI	0.464314	0.51287	N	-0.584957624069606	0.19400	1.015079	-0.258520579225593	0.29479	1.651887	0.994323254691569	0.33586	0.732398	0.92422	0	0.708844	0.79440	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.9	5.02	0.66742	2.798000	0.47578	6.600000	0.56053	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1341:0.0:0.8659:0.0	12.948	0.57782	942	0.12992	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	2122.66	33	chr12	76389653	.	G	C	2122.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-9.600e-02;DP=758;ExcessHet=0.0000;FS=2.055;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=21.44;ReadPosRankSum=-3.920e-01;SOR=0.470	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1151	19	1	1	0
chr12	77029839	77029839	T	C	exonic	E2F7	.	nonsynonymous SNV	E2F7:NM_203394:exon10:c.A1876G:p.M626V,	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.002	B	0.007	B	0.084	N	0.918	N	1.445	L	0.51	T	-1.095	T	0.032	T	0.113	0.100	4.539	0.203	0.422	-0.480	1.015	0.126	.	.	0.00838658	0.0029	0.0002	8.637e-05	0.0339	0	0.0004	0	0.0022	0.0028784	445	154602	rs3829295	0.0011	0.0011	0.0010	0.0011	0.0265	0.0010	0.0010	0.0252	0.0247	0	0.0001	0.0047	0.0265	0	0	5.756e-05	0.0029	0.0020	0.0016	0.0016	0.0013	0.0019	0.0357	0.0014	0.0013	0.0315	0.0299	0.0001	0	0.0002	0.0052	0.0357	0	0	0.0001	0.0014	0.0037	0.779	0.08384	T	1.0	0.02943	T	0.0	0.09854	B	0.001	0.12992	B	0.083969	0.20723	N	0.538070	0.917642	0.27367	N	1.445	0.36358	L	0.51	0.55439	T	-0.16	0.15578	N	0.071	0.04913	-1.0954	0.04695	T	0.032	0.13811	T	10	0.0026804209	0.00041	T	.	.	.	0.126	0.34673	.	.	0.374434639691	0.37057	0.17378055355317065	0.17298	0.300266101794	0.32389	0.315513253212	0.12742	T	0.024626	0.18572	T	-0.572474	0.00214	T	-0.568636	0.15575	T	0.00586829145623874	0.00064	T	0.752925	0.38803	T	0.025937805	0.01589	0.042623688	0.05121	0.025937805	0.01589	0.042623688	0.05120	-1.425	0.01618	T	.	.	0.079	0.29833	B	.;.;.	.;.;.	-0.501669	0.01862	0.151	0.48835637387849345	0.04108	0.12717	0.17438	N	AEFBI	0.049303	0.08503	N	-0.790009752830221	0.13569	0.6694293	-0.748569685454549	0.15757	0.8303138	0.646639413345136	0.22113	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.69	0.203	0.14472	-0.472000	0.06702	-1.751000	0.04793	0.665000	0.62972	0.012000	0.18695	0.000000	0.08366	0.209000	0.22154	0.1391:0.2744:0.2303:0.3562	1.015	0.01410	672	0.60758	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2089.98	35	chr12	77029839	.	T	C	2089.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.150e-01;DP=876;ExcessHet=0.0000;FS=2.592;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=-1.165e+00;SOR=0.574	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1311	20	0	1	0
chr12	78122065	78122065	C	T	exonic	NAV3	.	nonsynonymous SNV	NAV3:NM_001024383:exon16:c.C3875T:p.S1292L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.003	U	1.000	D	2.085	M	1.54	T	-0.788	T	0.209	T	0.756	4.855	27.7	5.96	2.814	7.590	20.408	0.300	0.0211664299003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.45393	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.002884	0.35770	U	0.000000	1	0.81001	D	2.06	0.56677	M	1.54	0.30133	T	-2.61	0.56144	D	0.753	0.93605	-0.7880	0.55846	T	0.209	0.56839	T	10	0.45981365	0.59215	T	0.021166	0.43897	T	0.300	0.62068	0.095	0.01241	0.184605227958	0.18053	0.4302182023164918	0.42938	0.584248282105	0.54115	0.781294107437	0.79122	T	0.063529	0.32199	T	0.0621001	0.59875	T	-0.148574	0.59370	T	0.990160942077637	0.80380	D	0.990041	0.96927	D	0.16098966	0.36078	0.17520957	0.39971	0.16098966	0.36078	0.17520957	0.39970	-12.14	0.86745	D	.	.	0.367	0.62825	A	.;.;.	.;.;.	4.855405	0.79407	27.1	0.99921123506403198	0.98787	0.95188	0.63763	D	AEFBCI	0.894901	0.83438	D	0.846933385922589	0.88933	9.768618	0.857720689200262	0.93460	12.05662	1.0	0.98316	0.562547	0.31514	0	0.573888	0.26702	0	0.565031	0.19037	0	0.635551	0.53088	0	.	.	5.96	5.96	0.96695	7.681000	0.83381	7.708000	0.66649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	20.408	0.99014	946	0.12043	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1030.98	33	chr12	78122065	.	C	T	1030.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.728;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=-1.103e+00;SOR=0.717	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1127	20	0	1	0
chr12	79621147	79621147	T	C	exonic	PAWR	.	nonsynonymous SNV	PAWR:NM_001354732:exon3:c.A577G:p.I193V	.	.	424	1041	52	5	0	62	0.0289179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	B	0.003	B	0.005	N	0.843	N	0.695	N	2.33	T	-1.016	T	0.053	T	0.166	-0.097	3.526	1.55	0.071	0.261	8.495	0.006	.	0.0013	0.00858626	0.0061	0.0002	0.0026	0	0.0005	0.0020	0.0088	0.0347	0.0053945	834	154602	rs114414439	0.0030	0.0030	0.0020	0.0041	0.0330	0.0030	0.0029	0.0320	0.0316	0.0004	0.0019	0.0059	0.0002	0.0004	0.0116	0.0009	0.0035	0.0330	0.0022	0.0022	0.0017	0.0027	0.0313	0.0020	0.0019	0.0272	0.0257	0.0002	0	0.0022	0.0069	0.0002	0.0007	0.0136	0.0014	0.0028	0.0313	0.408	0.10212	T	0.889	0.03143	T	0.001	0.07471	B	0.003	0.08700	B	0.004962	0.33218	N	0.295460	0.843411	0.28599	N	0.955	0.23872	L	2.33	0.16492	T	-0.4	0.13805	N	0.084	0.06059	-1.0162	0.24948	T	0.053	0.22384	T	9	0.0024989247	0.00038	T	.	.	.	0.009	0.00846	.	.	0.152612264143	0.14878	0.04010957006196938	0.03956	0.357847506727	0.37495	0.317540466785	0.13048	T	0.253372	0.62388	T	-0.60912	0.00128	T	-0.622668	0.10977	T	0.00117452984299329	0.00011	T	0.583942	0.21221	T	0.012372446	0.00032	0.021040784	0.00170	0.012372446	0.00032	0.021040784	0.00170	-2.672	0.07071	T	.	.	0.073	0.04764	B	.	.	0.441101	0.08112	4.841	0.60576393731601175	0.06497	0.19118	0.20535	N	AEFBI	0.053732	0.09706	N	-0.324694081356762	0.28212	1.554285	-0.319452404254109	0.27471	1.524549	0.0945339958991377	0.16207	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	1.55	0.22356	0.298000	0.18874	-0.056000	0.12484	-0.112000	0.15009	0.469000	0.26714	0.003000	0.18671	0.936000	0.47498	0.0:0.3588:0.0:0.6412	8.495	0.32282	772	0.48957	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1928.11	48	chr12	79621147	.	T	C	1928.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.215;DP=955;ExcessHet=0.1072;FS=0.560;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.54;ReadPosRankSum=0.372;SOR=0.773	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	19	0	2	0
chr12	79796908	79796908	T	C	exonic	PPP1R12A	.	nonsynonymous SNV	PPP1R12A:NM_001244992:exon16:c.A2167G:p.T723A	.	.	432	1078	11	1	0	13	0.00599355	.	.	1617562	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.09	T	0.013	B	0.012	B	0.013	N	0.998	D	0.49	N	1.25	T	-1.070	T	0.049	T	0.213	2.648	14.81	3.34	0.954	0.412	6.524	0.018	0.00487012770318	.	0.00159744	0.0015	0	0.0003	0	0	0.0003	0.0022	0.0094	0.0012419	192	154602	rs201175104	0.0006	0.0006	0.0004	0.0008	0.0083	0.0006	0.0006	0.0078	0.0076	0	0.0004	3.831e-05	2.525e-05	0	0.0033	0.0001	0.0008	0.0083	0.0003	0.0003	0.0002	0.0004	0.0060	0.0002	0.0002	0.0043	0.0037	0	0	0.0001	0	0	0	0.0034	0.0001	0	0.0060	0.117	0.31682	T	0.304	0.23570	T	0.0	0.16609	B	0.0	0.16012	B	0.012556	0.29135	N	0.403521	0.880034	0.44417	D	1.18	0.29980	L	1.21	0.37746	T	-1.66	0.42575	N	0.106	0.13198	-1.0695	0.09523	T	0.049	0.21026	T	10	0.0052392483	0.00114	T	0.00487	0.12224	T	0.018	0.03083	.	.	0.334371577756	0.33041	0.14743659216693095	0.14665	0.128782013625	0.14521	0.346563100815	0.17415	T	0.236569	0.60407	T	-0.518218	0.00451	T	-0.512174	0.21092	T	0.0133029066152891	0.00238	T	0.734227	0.35417	T	0.04064586	0.05840	0.04548814	0.06130	0.04064586	0.05840	0.04548814	0.06129	-4.452	0.31227	T	.	.	0.064	0.02639	B	.;.;.;.;.	.;.;.;.;.	2.155080	0.27454	17.47	0.98668010789882676	0.44428	0.72737	0.35593	D	AEFBI	0.097586	0.19680	N	-0.361977633314355	0.26835	1.467603	-0.184481747318355	0.32106	1.823349	0.0292048284316731	0.13874	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.79	3.34	0.37357	0.543000	0.22945	1.497000	0.26929	0.665000	0.62972	0.888000	0.31154	1.000000	0.68203	0.998000	0.85391	0.122:0.1361:0.0:0.7419	6.524	0.21486	796	0.45353	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	819.98	35	chr12	79796908	.	T	C	819.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.270e+00;DP=809;ExcessHet=0.0000;FS=4.902;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.530;SOR=1.335	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1308	20	0	1	0
chr12	79808529	79808529	G	A	exonic	PPP1R12A	.	nonsynonymous SNV	PPP1R12A:NM_001143886:exon11:c.C1243T:p.P415S	.	.	440	1081	1	0	0	1	0.000462321	.	.	3052548	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.27	T	1.0	D	0.998	D	0.000	D	1.000	D	1.675	L	1.27	T	-0.727	T	0.265	T	0.86	4.747	26.5	5.26	2.450	9.199	18.876	0.362	0.0153141992635	.	.	1.658e-05	0	0	0	0	3e-05	0	0	1.29e-05	2	154602	rs746022915	1.304e-05	1.437e-05	1.229e-05	1.38e-05	3.507e-05	8.34e-06	6.72e-06	9.32e-06	6.44e-06	0	0	0	0	0	0	1.353e-05	1.661e-05	3.507e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.33753	T	0.269	0.27235	T	0.997	0.90584	D	0.986	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.16	0.60381	M	1.27	0.47477	T	-3.13	0.63901	D	0.745	0.82358	-0.7271	0.59109	T	0.265	0.63652	T	10	0.5819343	0.65898	D	0.015314	0.35967	T	0.362	0.68230	0.186	0.09517	0.592980107456	0.58975	0.19059059367287617	0.18977	0.604833836903	0.55405	0.814469158649	0.84178	D	0.375321	0.73894	T	0.172637	0.71366	D	0.0738499	0.75167	D	0.893908083438873	0.54520	D	0.854215	0.71859	D	0.2339611	0.46209	0.24719098	0.50244	0.2339611	0.46209	0.24719098	0.50243	-9.505	0.70890	D	.	.	0.533	0.78437	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.828052	0.78704	27.0	0.99907875995010442	0.97801	0.99362	0.95033	D	AEFBI	0.868617	0.78881	D	0.761052935131931	0.83624	8.066109	0.764166895716148	0.87212	9.144698	0.999999988704157	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	5.26	0.73479	9.323000	0.95598	11.669000	0.94079	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.876	0.92307	778	0.48011	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1631.98	38	chr12	79808529	.	G	A	1631.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.10;DP=863;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.77;ReadPosRankSum=1.91;SOR=0.714	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr12	80238950	80238950	C	T	exonic	OTOGL	.	nonsynonymous SNV	OTOGL:NM_001378609:exon10:c.C890T:p.P297L	Deafness, autosomal recessive 84B, Autosomal recessive	.	14	1505	3	0	0	3	0.000995685	.	.	230350	Inborn_genetic_diseases|not_specified|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	.	.	1.000	D	2.475	M	2.23	T	-0.938	T	0.129	T	0.518	4.294	22.5	5.24	2.617	6.460	19.189	0.233	0.0450128080052	0.0014	0.00139776	0.0019	0.0002	0.0012	0	0.0053	0.0026	0.0014	0.0002	0.0014618	226	154602	rs200050988	0.0014	0.0014	0.0015	0.0014	0.0015	0.0014	0.0013	0.0014	0.0014	0.0001	0.0006	0.0002	0	0.0055	0.0002	0.0015	0.0019	0.0002	0.0011	0.0011	0.0011	0.0012	0.0014	0.0010	0.0010	0.0012	0.0011	7.224e-05	0	0.0008	0	0	0.0058	0	0.0014	0.0005	0	0.001	0.78490	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.22	0.18248	T	-8.04	0.96594	D	0.735	0.73555	-0.9377	0.42979	T	0.129	0.43767	T	7	0.012156695	0.00262	T	0.045013	0.61774	D	0.233	0.53499	.	.	0.215869574891	0.21205	0.7067513157466023	0.70617	0.185581070917	0.20870	0.585480034351	0.50858	T	.	.	.	-0.38128	0.03059	T	-0.327722	0.41722	T	0.110839074367325	0.13510	T	0.787321	0.42620	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387	0.65754	A	.;.;.	.;.;.	4.349357	0.66796	25.0	0.99867896818046775	0.94547	0.98674	0.85428	D	AEFI	0.590971	0.58725	D	0.557030498872722	0.70512	5.512256	0.596324842406309	0.74675	6.17768	0.184417142226932	0.17915	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.645665	0.59343	0	.	.	5.24	5.24	0.72863	6.265000	0.72498	7.655000	0.63911	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.189	0.93643	510	0.75209	von Willebrand factor, type D domain;.;von Willebrand factor, type D domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1035.98	36	chr12	80238950	.	C	T	1035.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.864;DP=859;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.38;ReadPosRankSum=-1.605e+00;SOR=0.735	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr12	80460747	80460747	C	T	exonic	PTPRQ	.	nonsynonymous SNV	PTPRQ:NM_001145026:exon6:c.C755T:p.T252M,	Deafness, autosomal recessive 84A, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs779710150	4.03e-06	1.59e-06	8.169e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	6.042e-05	0	6.573e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.13484	.	.	.	.	.	.	.	0.07998103	0.12928	T	.	.	.	.	.	.	.	.	.	0.3103204566541129	0.30945	.	.	.	.	.	0.035648	0.23800	T	.	.	.	.	.	.	.	.	.	0.475352	0.14216	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06571	B	.;.;.	.;.;.	0.765010	0.11347	7.966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.213000	0.09309	-4.773000	0.01992	-0.919000	0.02208	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	917	0.20147	Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1418.98	33	chr12	80460747	.	C	T	1418.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=870;ExcessHet=0.0000;FS=1.561;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.64;ReadPosRankSum=-1.934e+00;SOR=0.546	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1205	20	0	1	0
chr12	80549582	80549582	A	G	exonic	PTPRQ	.	nonsynonymous SNV	PTPRQ:NM_001145026:exon25:c.A4133G:p.E1378G,	Deafness, autosomal recessive 84A, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.002	B	0.017	B	.	.	1.000	N	.	.	0.62	T	-1.019	T	0.093	T	0.792	-0.213	2.967	1.79	0.048	1.247	9.346	0.127	0.0027077475254	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1429575439	5.004e-06	4.788e-06	2.821e-06	7.246e-06	0.0002	2.08e-06	1.34e-06	8.7e-07	5.9e-07	0	0	0	0	0	0.0002	3.708e-06	3.449e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.18395	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.102	0.19593	-1.0190	0.24041	T	0.093	0.35498	T	8	0.20038566	0.36083	T	0.002708	0.05579	T	.	.	0.462	0.53079	0.234412748748	0.23057	0.6282205870740719	0.62755	.	.	0.363525301218	0.19898	T	0.010589	0.09546	T	0.151046	0.69366	D	-0.00532311	0.69990	D	0.0700995244622825	0.08666	T	0.688631	0.29780	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.03231	B	.;.;.	.;.;.	1.498880	0.19271	14.18	0.80972232383243359	0.13457	0.53878	0.29478	D	AEFBIJ	0.088589	0.17960	N	-0.199467044611381	0.33157	1.877947	-0.23419647297749	0.30320	1.706115	0.0163790384156863	0.12824	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.83	1.79	0.23992	1.253000	0.32488	2.529000	0.33158	0.756000	0.94297	0.998000	0.41325	0.990000	0.31317	0.769000	0.36481	0.6864:0.0:0.3136:0.0	9.346	0.37269	908	0.22609	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2270.98	34	chr12	80549582	.	A	G	2270.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.095;DP=885;ExcessHet=0.0000;FS=3.990;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.30;ReadPosRankSum=-7.370e-01;SOR=0.960	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1162	20	0	1	0
chr12	81268054	81268054	C	T	exonic	PPFIA2	.	nonsynonymous SNV	PPFIA2:NM_001220479:exon17:c.G1952A:p.R651H	.	.	441	1045	36	0	0	36	0.0169332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	1.0	D	0.992	D	0.000	D	1.000	D	1.44	L	-1.92	D	0.114	D	0.615	D	0.804	3.271	16.98	5.91	2.807	6.082	20.305	0.536	.	0.0070	0.00399361	0.0115	0.0022	0.0058	0	0.0012	0.0140	0.0080	0.0199	0.0064423	996	154602	rs61756413	0.0086	0.0086	0.0083	0.0088	0.0137	0.0084	0.0084	0.0130	0.0128	0.0014	0.0034	0.0102	0.0001	0.0014	0.0113	0.0092	0.0083	0.0137	0.0053	0.0054	0.0055	0.0052	0.0143	0.0050	0.0049	0.0116	0.0106	0.0014	0	0.0024	0.0118	0.0002	0.0008	0.0105	0.0086	0.0053	0.0143	0.218	0.20988	T	0.291	0.20944	T	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.835	0.21042	L	-1.92	0.84773	D	-0.11	0.23372	N	0.56	0.66700	0.114	0.84433	D	0.615	0.86389	D	10	0.013827771	0.00292	T	.	.	.	0.536	0.80545	.	.	0.930576009411	0.92986	0.39334430205409027	0.39249	1.42373316533	0.85663	0.761375904083	0.76134	T	0.058123	0.30755	T	-0.111376	0.34542	T	0.0789164	0.75505	D	0.0156376510572331	0.00358	T	0.929607	0.74365	D	0.35029003	0.57090	0.29099292	0.55124	0.35029003	0.57090	0.29099292	0.55123	-7.346	0.61404	T	.	.	0.087	0.28027	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.561971	0.92146	32	0.99394218987553684	0.62474	0.97156	0.73019	D	AEFHI	0.897733	0.84025	D	0.68250432754919	0.78488	6.881378	0.715415096013723	0.83549	8.050912	0.999999999999919	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.91	5.91	0.95240	6.163000	0.71702	7.669000	0.64672	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.305	0.98622	766	0.49742	.;.;Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Liprin-alpha, SAM domain repeat 3;Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Liprin-alpha, SAM domain repeat 3;.;.;Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Liprin-alpha, SAM domain repeat 3;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2337.11	34	chr12	81268054	.	C	T	2337.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.40;DP=885;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=0.282;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1172	19	0	2	0
chr12	81347726	81347726	T	G	exonic	PPFIA2	.	nonsynonymous SNV	PPFIA2:NM_001220479:exon8:c.A740C:p.E247A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.956	P	0.931	D	0.000	D	1.000	D	2.755	M	1.33	T	-0.496	T	0.253	T	0.799	5.179	32	5.51	2.213	7.967	15.930	0.476	0.060819183667	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1292384090	2.053e-06	2.052e-06	1.361e-06	2.751e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.78490	D	0.042	0.76473	D	0.956	0.54666	P	0.931	0.66596	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.915	0.84231	M	0.86	0.46777	T	-4.22	0.87687	D	0.756	0.83371	-0.4963	0.68783	T	0.253	0.62292	T	10	0.6661063	0.70436	D	0.060819	0.68129	D	0.476	0.76816	0.288	0.24761	0.71014061206	0.70761	0.5828677094112323	0.58215	1.05994440171	0.76445	0.859525978565	0.91041	D	0.504251	0.82342	D	0.143897	0.68693	D	-0.0310787	0.68296	D	0.990785002708435	0.81016	D	0.957104	0.84151	D	0.77582324	0.82398	0.7528229	0.85390	0.77582324	0.82399	0.7528229	0.85391	-12.92	0.89098	D	.	.	0.806	0.79163	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.040749	0.83904	28.2	0.99540375207127996	0.70461	0.98601	0.84566	D	AEI	0.950443	0.96408	D	0.839957893182604	0.88530	9.612608	0.807114091332039	0.90285	10.33766	0.999995486285165	0.74766	0.533608	0.22052	0	0.573888	0.26702	0	0.685742	0.62368	0	0.564101	0.26826	0	.	.	5.51	5.51	0.81769	7.987000	0.87812	7.902000	0.73606	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.930	0.79435	799	0.44747	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1015.98	33	chr12	81347726	.	T	G	1015.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.60;DP=772;ExcessHet=0.0000;FS=1.852;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=-1.432e+00;SOR=0.976	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1335	20	0	1	0
chr12	82354560	82354560	T	G	exonic	CCDC59	.	nonsynonymous SNV	CCDC59:NM_014167:exon3:c.A499C:p.T167P,	.	.	501	1018	3	0	0	3	0.00147131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.993	D	0.000	D	0.997	D	2.425	M	.	.	-0.283	T	0.331	T	0.587	3.565	18.17	4.38	1.029	5.189	10.869	0.226	0.038845484569	0.0038	0.00179712	0.0046	0.0008	0.0008	0	0.0029	0.0078	0.0054	0.0018	0.0033893	524	154602	rs143136847	0.0051	0.0052	0.0053	0.0050	0.0062	0.0050	0.0050	0.0061	0.0061	0.0010	0.0010	7.747e-05	2.548e-05	0.0017	0.0004	0.0062	0.0047	0.0013	0.0033	0.0033	0.0035	0.0030	0.0050	0.0031	0.0030	0.0046	0.0044	0.0009	0.0275	0.0044	0	0.0002	0.0008	0	0.0050	0.0052	0.0021	0.003	0.68238	D	0.006	0.70582	D	1.0	0.90584	D	0.993	0.81110	D	0.000016	0.62929	D	0.151039	0.997085	0.43619	D	3.07	0.87108	M	.	.	.	-3.04	0.62863	D	0.541	0.56833	-0.2830	0.75458	T	0.331	0.69843	T	9	0.008198142	0.00186	T	0.038845	0.58465	D	0.226	0.52472	.	.	0.212008924253	0.20833	0.2655612069738832	0.26469	0.264391551032	0.28988	0.513762116432	0.40748	T	0.189936	0.54431	T	-0.214851	0.18700	T	-0.0798909	0.64912	T	0.0619239941158709	0.07468	T	0.724828	0.33863	T	0.50307125	0.67275	0.64237314	0.79101	0.50307125	0.67276	0.64237314	0.79102	-9.83	0.72888	D	.	.	0.519	0.65439	A	.	.	4.441164	0.68956	25.3	0.99666167562625818	0.78266	0.93911	0.59549	D	AEFBI	0.759047	0.69750	D	0.589866789247892	0.72541	5.822091	0.525820524097949	0.69733	5.402719	0.996891001664592	0.35096	0.732398	0.92422	0	0.709663	0.81188	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.53	4.38	0.52019	3.964000	0.56488	6.026000	0.52860	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0756:0.0:0.9244	10.869	0.46080	908	0.22609	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	34.98	34	chr12	82354560	.	T	G	34.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=648;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.46;ReadPosRankSum=-1.085e+00;SOR=1.071	GT:AD:DP:GQ:PL	0/0:21,0:21:60:0,60,629	20	0	1	0
chr12	82895930	82895930	C	T	exonic	TMTC2	.	nonsynonymous SNV	TMTC2:NM_001320321:exon2:c.C32T:p.S11L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	1.0	D	0.98	D	0.000	D	1.000	D	1.75	L	0.97	T	-0.918	T	0.216	T	0.852	4.951	28.8	5.84	2.764	7.487	20.139	0.270	0.0406272252823	.	.	1.648e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs767830943	3.42e-06	3.42e-06	1.361e-06	5.5e-06	3.478e-05	1e-06	7.3e-07	9.24e-06	4.56e-06	0	2.236e-05	0	0	0	0	8.993e-07	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.68238	D	0.038	0.51421	D	1.0	0.90584	D	0.98	0.74843	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.005	0.85968	M	0.97	0.42502	T	-3.28	0.65627	D	0.86	0.85872	-0.9179	0.45837	T	0.216	0.57771	T	10	0.66027266	0.70112	D	0.040627	0.59481	D	0.270	0.58507	0.381	0.39807	0.240615537116	0.23683	0.7651796804640772	0.76466	0.369915212655	0.38521	0.865654051304	0.91941	D	0.043072	0.34008	T	0.0497231	0.58308	T	0.0593491	0.74202	D	0.873375177383423	0.52324	D	0.949755	0.85427	D	0.6867043	0.77332	0.489	0.70462	0.6867043	0.77333	0.489	0.70463	-10.992	0.79615	D	.	.	0.732	0.77075	P	.;.;.	.;.;.	5.103340	0.85284	28.6	0.99931832812952182	0.99387	0.98745	0.86308	D	AEFI	0.902051	0.84949	D	0.519935146816595	0.68268	5.194058	0.589684195083704	0.74198	6.096581	0.999999999928107	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.84	5.84	0.93373	7.568000	0.81546	7.713000	0.66906	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	20.139	0.98050	793	0.45818	Domain of unknown function DUF1736;Domain of unknown function DUF1736;Domain of unknown function DUF1736	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1485.98	33	chr12	82895930	.	C	T	1485.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.71;DP=828;ExcessHet=0.0000;FS=5.592;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.61;ReadPosRankSum=1.64;SOR=1.199	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr12	85040563	85040563	A	G	exonic	LRRIQ1	.	nonsynonymous SNV	LRRIQ1:NM_001079910:exon3:c.A206G:p.E69G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.964	D	0.637	P	0.085	N	0.804	N	1.445	L	0.56	T	-0.791	T	0.167	T	0.455	2.441	14.12	4.53	1.816	2.508	7.103	0.127	0.036109835936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	2.736e-06	1.373e-06	1.387e-06	1.811e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.811e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.46513	D	0.166	0.51112	T	0.964	0.55854	D	0.637	0.51992	P	0.085295	0.20649	N	0.345516	0.804403	0.29076	N	2.34	0.67151	M	0.56	0.55439	T	-4.84	0.81030	D	0.315	0.35514	-0.7914	0.55648	T	0.167	0.50583	T	10	0.18906403	0.34489	T	0.03611	0.56779	D	0.127	0.34888	0.258	0.20002	0.54665026281	0.54320	0.07647537423681271	0.07583	0.0394828570117	0.04210	0.344313323498	0.17081	T	0.024919	0.18734	T	-0.0565718	0.43440	T	-0.319038	0.42680	T	0.83502656838669	0.48927	D	0.690631	0.30204	T	0.16745919	0.37144	0.23576428	0.48829	0.16745919	0.37143	0.23576428	0.48828	-5.371	0.40640	T	.	.	0.134	0.34004	B	.;.	.;.	3.987178	0.58650	24.0	0.99594993578665481	0.73866	0.55757	0.29944	D	AEFI	0.242177	0.36368	N	0.21769650707813	0.52058	3.382384	0.24543352097637	0.52389	3.414121	0.0133216564396304	0.12449	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	4.53	4.53	0.55009	1.694000	0.37371	5.035000	0.46860	0.665000	0.62972	0.696000	0.28588	1.000000	0.68203	0.925000	0.46118	0.8957:0.0:0.1043:0.0	7.103	0.24529	927	0.17636	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1072.98	34	chr12	85040563	.	A	G	1072.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.240e-01;DP=755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.90;ReadPosRankSum=0.672;SOR=0.723	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr12	85055800	85055800	G	T	exonic	LRRIQ1	.	nonsynonymous SNV	LRRIQ1:NM_001079910:exon8:c.G1007T:p.R336L,	.	.	463	1058	1	0	0	1	0.000472367	.	.	3288149	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.25	T	0.037	B	0.012	B	0.178	N	1.000	N	1.04	L	0.39	T	-1.056	T	0.089	T	0.108	0.396	6.150	-8.68	-1.375	-2.114	5.873	0.044	0.0283662280693	.	.	1.241e-05	0	0	0	0	2.446e-05	0	0	1.29e-05	2	154602	rs756097902	9.69e-06	9.577e-06	1.238e-05	6.969e-06	0.0007	5.62e-06	4.4e-06	0.0002	0.0001	0	0	0	0	0	0.0007	4.538e-06	5.03e-05	2.361e-05	2.671e-05	2.643e-05	3.908e-05	1.371e-05	4.459e-05	8.24e-06	5.21e-06	1.184e-05	6.28e-06	0	0	0	0	0	0	0.0032	4.459e-05	0	0	0.081	0.33418	T	0.087	0.40747	T	0.005	0.12996	B	0.007	0.12992	B	0.178422	0.03164	N	1.932060	1	0.08975	N	1.2	0.30300	L	0.39	0.57419	T	-3.08	0.63323	D	0.115	0.10340	-1.0556	0.12882	T	0.089	0.34408	T	10	0.041407973	0.02793	T	0.028366	0.51054	D	0.044	0.11924	0.167	0.07186	0.0482279557977	0.04254	0.22710745232474755	0.22625	0.0107628809615	0.00996	0.232092648745	0.02126	T	0.003114	0.02515	T	-0.33746	0.05566	T	-0.619571	0.11219	T	0.0377143139089912	0.03281	T	0.643636	0.25529	T	0.08992107	0.21024	0.12903471	0.31033	0.08992107	0.21024	0.12903471	0.31033	-5.446	0.41359	T	.	.	0.224	0.45544	B	.	.	0.028323	0.04481	1.194	0.86048635500747916	0.16280	0.01183	0.04239	N	AEFBI	0.027661	0.02299	N	-1.55082200307477	0.01530	0.06680698	-1.66171268121826	0.01316	0.05939927	0.95936331584003	0.28421	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.27	-8.68	0.00744	-2.858000	0.00796	-3.813000	0.02520	-0.161000	0.11593	0.000000	0.06391	0.000000	0.08366	0.971000	0.54645	0.6334:0.0827:0.1329:0.151	5.873	0.18060	928	0.17405	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	845.98	40	chr12	85055800	.	G	T	845.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.914;DP=777;ExcessHet=0.0000;FS=3.757;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.11;ReadPosRankSum=1.96;SOR=1.060	GT:AD:DP:GQ:PL	0/1:26,30:56:99:860,0,660	20	0	1	0
chr12	85055925	85055925	C	G	exonic	LRRIQ1	.	nonsynonymous SNV	LRRIQ1:NM_001079910:exon8:c.C1132G:p.L378V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.024	B	0.012	B	0.849	N	1.000	N	1.15	L	0.64	T	-0.996	T	0.090	T	0.102	-1.679	0.012	0.622	0.116	0.386	5.088	0.008	0.00642875802449	.	.	.	.	.	.	.	.	.	.	.	.	.	rs997381150	1.72e-05	1.71e-05	2.053e-05	1.384e-05	0.0004	1.181e-05	9.98e-06	6.214e-05	2.566e-05	0	0	0	0	0	0.0004	1.894e-05	0	2.392e-05	1.318e-05	1.313e-05	0	2.696e-05	2.411e-05	2.19e-06	8.2e-07	.	.	2.411e-05	0	0	0	0	0	0.0034	0	0	0	0.301	0.14449	T	0.277	0.21880	T	0.011	0.15914	B	0.011	0.15521	B	0.848950	0.08977	N	0.917841	0.999998	0.08975	N	1.935	0.51832	L	0.64	0.52867	T	-0.88	0.23808	N	0.067	0.03956	-0.9955	0.31164	T	0.090	0.34655	T	10	0.052263796	0.05232	T	0.006429	0.16927	T	0.008	0.00669	0.24	0.17218	0.32082282376	0.31691	0.05481815032257409	0.05422	0.0121123823965	0.01151	0.2789029181	0.07340	T	0.003671	0.03081	T	-0.278528	0.10823	T	-0.637863	0.09826	T	0.0201156869114758	0.00712	T	0.59944	0.22338	T	0.046944126	0.07941	0.034619603	0.02560	0.046944126	0.07941	0.034619603	0.02560	-3.499	0.16417	T	.	.	0.111	0.21578	B	.	.	0.257054	0.06360	2.821	0.11481571656065934	0.00174	0.11933	0.16954	N	AEFBI	0.070372	0.13967	N	-0.885447594290122	0.11188	0.5385758	-0.914186800779856	0.11759	0.6010422	1.46514325930885E-5	0.02871	0.516011	0.20929	0	0.573888	0.26702	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	4.88	0.622	0.16822	-0.370000	0.07578	-1.460000	0.05389	-0.972000	0.01937	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1318:0.4964:0.2944:0.0774	5.088	0.14026	928	0.17405	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	536.98	40	chr12	85055925	.	C	G	536.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.810e-01;DP=847;ExcessHet=0.0000;FS=2.002;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.26;ReadPosRankSum=-9.150e-01;SOR=0.475	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	20	0	1	0
chr12	85056019	85056019	A	G	exonic	LRRIQ1	.	nonsynonymous SNV	LRRIQ1:NM_001079910:exon8:c.A1226G:p.H409R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.139	B	0.025	B	0.397	N	1.000	N	1.04	L	0.77	T	-1.047	T	0.089	T	0.093	0.798	8.198	0.722	-0.057	0.541	5.021	0.020	0.00648457057696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.20835	T	0.224	0.25591	T	0.139	0.27501	B	0.025	0.20508	B	0.396808	0.04510	N	1.340400	1	0.08975	N	1.735	0.44892	L	0.77	0.49642	T	-1.53	0.37178	N	0.089	0.06720	-1.0470	0.15246	T	0.089	0.34381	T	10	0.045061618	0.03533	T	0.006485	0.17072	T	0.020	0.03691	0.174	0.08014	0.225902525712	0.22197	0.061584795984740925	0.06098	0.0104516395209	0.00965	0.331916958094	0.15223	T	0.001784	0.01205	T	-0.287917	0.09846	T	-0.65135	0.08859	T	0.0565411038696766	0.06613	T	0.368163	0.08622	T	0.038733363	0.05218	0.05348246	0.09018	0.038733363	0.05218	0.05348246	0.09018	-3.574	0.17482	T	.	.	0.108	0.20274	B	.	.	0.587909	0.09566	6.339	0.54786492251064089	0.05208	0.15143	0.18765	N	AEFBI	0.071215	0.14168	N	-0.998943989542942	0.08626	0.4052027	-1.03600314289624	0.09001	0.4454498	1.43920586967869E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	4.65	0.722	0.17379	0.238000	0.17782	0.170000	0.15507	-0.174000	0.10959	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.5158:0.0:0.0774:0.4068	5.021	0.13705	928	0.17405	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1507.98	40	chr12	85056019	.	A	G	1507.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.554e+00;DP=899;ExcessHet=0.0000;FS=0.624;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=1.03;SOR=0.787	GT:AD:DP:GQ:PL	0/1:72,69:141:99:1522,0,1780	20	0	1	0
chr12	85124458	85124458	G	C	exonic	LRRIQ1	.	nonsynonymous SNV	LRRIQ1:NM_001079910:exon17:c.G3946C:p.E1316Q,	.	.	433	1088	1	0	0	1	0.000459348	.	.	2690720	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.826	P	0.292	B	0.103	N	1.000	N	0.345	N	0.44	T	-1.029	T	0.069	T	0.114	2.736	15.11	2.5	0.738	0.549	1.499	0.078	0.0190558660063	.	.	8.406e-05	0	0	0	0	0.0002	0	0	6.47e-05	10	154602	rs760879565	6.705e-05	6.704e-05	6.127e-05	7.29e-05	0.0012	5.63e-05	5.173e-05	0.0006	0.0004	0.0001	4.472e-05	3.826e-05	0	0	0.0012	6.385e-05	0.0002	0	6.568e-05	6.562e-05	5.141e-05	8.059e-05	7.352e-05	3.515e-05	2.615e-05	2.847e-05	1.859e-05	2.407e-05	0	0	0	0	0	0.0102	7.352e-05	0.0005	0	0.337	0.12837	T	0.339	0.18071	T	0.493	0.37004	P	0.155	0.34417	B	0.103391	0.19749	N	0.467452	1	0.08975	N	1.75	0.45442	L	0.44	0.56609	T	-1.06	0.27669	N	0.294	0.33250	-1.0286	0.20908	T	0.069	0.28180	T	10	0.13269368	0.25254	T	0.019056	0.41318	T	0.078	0.22779	.	.	0.536100336011	0.53261	0.26128802743784973	0.26041	0.0515022165253	0.05672	0.307593286037	0.11544	T	0.010779	0.09696	T	-0.370668	0.03560	T	-0.544514	0.17857	T	0.04774559289217	0.05097	T	0.636336	0.25008	T	0.05740735	0.11421	0.037575323	0.03441	0.05740735	0.11420	0.037575323	0.03440	-4.601	0.32184	T	.	.	0.184	0.39865	B	.	.	1.682381	0.21443	15.20	0.99179109821026523	0.54614	0.06953	0.12979	N	AEFI	0.043780	0.06962	N	-0.588210448005903	0.19302	1.009119	-0.644139849907204	0.18365	0.9807297	3.3390441503799E-6	0.01202	0.553676	0.25195	0	0.624306	0.53593	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.33	2.5	0.29355	0.901000	0.28075	1.547000	0.27267	0.618000	0.50648	0.404000	0.26202	0.897000	0.27914	0.004000	0.06068	0.2343:0.2048:0.4266:0.1343	1.499	0.02324	874	0.30607	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1152.98	35	chr12	85124458	.	G	C	1152.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.88;DP=787;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.17;ReadPosRankSum=0.839;SOR=0.801	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1234	20	0	1	0
chr12	88060951	88060951	A	G	exonic	CEP290	.	nonsynonymous SNV	CEP290:NM_025114:exon47:c.T6401C:p.I2134T,	Joubert syndrome 5, Autosomal recessive;Leber congenital amaurosis 10;Meckel syndrome 4, Autosomal recessive;Senior-Loken syndrome 6, Autosomal recessive	.	386	1115	18	3	0	24	0.0106477	.	.	177274	Meckel_syndrome,_type_4|not_provided|Nephronophthisis|Familial_aplasia_of_the_vermis|Meckel-Gruber_syndrome|not_specified|Leber_congenital_amaurosis|Leber_congenital_amaurosis_10|Intellectual_disability|Bardet-Biedl_syndrome_14|Senior-Loken_syndrome_6|Joubert_syndrome_5	MONDO:MONDO:0012626,MedGen:C1970161,OMIM:611134,Orphanet:564|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564|MedGen:CN169374|MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65|MONDO:MONDO:0012723,MedGen:C1857821,OMIM:611755,Orphanet:65|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MONDO:MONDO:0014442,MedGen:C2673874,OMIM:615991,Orphanet:110|MONDO:MONDO:0012433,MedGen:C1857779,OMIM:610189,Orphanet:3156|MONDO:MONDO:0012432,MedGen:C1857780,OMIM:610188,Orphanet:2318	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.28	T	0.999	D	0.964	D	0.000	D	1.000	D	2.36	M	-0.3	T	-0.065	T	0.483	T	0.841	4.329	22.7	6.03	2.308	8.572	16.558	0.406	.	0.0055	0.00579073	0.0147	0.0019	0.0014	0	0.0011	0.0191	0.0069	0.0195	0.0053816	832	154602	rs117852025	0.0075	0.0075	0.0072	0.0078	0.0163	0.0074	0.0074	0.0155	0.0152	0.0012	0.0024	0.0363	5.289e-05	0.0011	0.0163	0.0070	0.0100	0.0163	0.0053	0.0053	0.0054	0.0051	0.0137	0.0050	0.0049	0.0110	0.0101	0.0015	0	0.0018	0.0478	0.0008	0.0009	0.0102	0.0066	0.0062	0.0137	0.003	0.68238	D	0.019	0.59159	D	0.999	0.77913	D	0.964	0.71005	D	0.000003	0.62929	D	0.101317	0.99994	0.51968	D	1.975	0.53506	M	-0.9	0.74896	T	-1.88	0.43906	N	0.834	0.95021	-0.0647	0.80894	T	0.483	0.80270	T	10	0.009030223	0.00204	T	.	.	.	0.406	0.71869	.	.	0.875205848546	0.87398	0.34686869949352617	0.34600	0.378355118775	0.39249	0.710693120956	0.68693	T	0.476381	0.80704	T	-0.0341945	0.46804	T	0.189782	0.82556	D	0.0166690938146821	0.00426	T	0.847515	0.52873	T	0.16860478	0.37327	0.25384763	0.51040	0.19353971	0.41067	0.26356167	0.52163	-8.001	0.61077	D	0.7348488337888284	0.81667	0.347	0.56403	A	.;.;.	.;.;.	4.609159	0.73081	25.9	0.99875343345217849	0.95244	0.98733	0.86156	D	AEFBI	0.884967	0.81510	D	0.806607080363494	0.86520	8.911169	0.806839436661137	0.90263	10.32915	0.999996654593781	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.618467	0.43123	0	0.727631	0.95156	0	.	.	6.03	6.03	0.97798	8.349000	0.89970	11.229000	0.90032	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	16.558	0.84362	876	0.30350	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	950.98	105	chr12	88060951	.	A	G	950.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.230e-01;DP=980;ExcessHet=0.0000;FS=2.646;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.06;ReadPosRankSum=0.059;SOR=1.011	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,105,1575	20	0	1	0
chr12	88071870	88071870	T	C	exonic	CEP290	.	nonsynonymous SNV	CEP290:NM_025114:exon42:c.A5766G:p.I1922M,	Joubert syndrome 5, Autosomal recessive;Leber congenital amaurosis 10;Meckel syndrome 4, Autosomal recessive;Senior-Loken syndrome 6, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.018	B	0.007	B	0.008	N	1.000	N	0.715	N	0.42	T	-1.020	T	0.132	T	0.11	1.629	11.40	1.3	0.821	0.450	5.440	0.019	0.0152410199645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.16198	T	0.319	0.26883	T	0.018	0.17786	B	0.007	0.12992	B	0.007759	0.31217	N	0.417674	0.963716	0.26013	N	0.88	0.21560	L	-0.22	0.66474	T	-0.55	0.16799	N	0.158	0.16586	-1.0201	0.23682	T	0.132	0.44366	T	10	0.07762176	0.12273	T	0.015241	0.35857	T	0.019	0.03383	0.239	0.17065	0.596177834036	0.59297	0.16368843717570075	0.16288	0.0534937594924	0.05900	0.329023599625	0.14786	T	0.135594	0.46750	T	-0.173495	0.24707	T	-0.48699	0.23707	T	0.0837526246905327	0.10460	T	0.767423	0.39577	T	0.03887691	0.05263	0.040730033	0.04470	0.03887691	0.05263	0.040730033	0.04469	-3.27	0.13353	T	0.080311488357157	0.04039	0.059	0.01715	B	.;.;.	.;.;.	0.785634	0.11562	8.153	0.96498286191207161	0.30034	0.58312	0.30608	D	AEFBI	0.088385	0.17918	N	-0.456927952624568	0.23506	1.262778	-0.31237931910196	0.27698	1.538832	0.00197731880883092	0.09053	0.732398	0.92422	0	0.743671	0.97443	0	0.653264	0.51672	0	0.727631	0.95156	0	.	.	5.34	1.3	0.20778	0.464000	0.21700	-0.113000	0.11807	-0.186000	0.09761	0.998000	0.41325	0.717000	0.26328	0.939000	0.47918	0.2652:0.1302:0.0:0.6046	5.440	0.15802	876	0.30350	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1543.98	34	chr12	88071870	.	T	C	1543.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.05;DP=830;ExcessHet=0.0000;FS=2.965;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=-2.853e+00;SOR=0.897	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr12	88079219	88079219	C	T	exonic	CEP290	.	nonsynonymous SNV	CEP290:NM_025114:exon39:c.G5237A:p.R1746Q,	Joubert syndrome 5, Autosomal recessive;Leber congenital amaurosis 10;Meckel syndrome 4, Autosomal recessive;Senior-Loken syndrome 6, Autosomal recessive	YES	5	1461	53	3	0	59	0.019792	.	.	131794	Joubert_syndrome_5|not_provided|Kidney_disorder|Leber_congenital_amaurosis|Meckel_syndrome,_type_4|Bardet-Biedl_syndrome_14|Leber_congenital_amaurosis_10|Senior-Loken_syndrome_6|Retinal_dystrophy|not_specified|Nephronophthisis|Familial_aplasia_of_the_vermis|Meckel-Gruber_syndrome	MONDO:MONDO:0012432,MedGen:C1857780,OMIM:610188,Orphanet:2318|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658|MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65|MONDO:MONDO:0012626,MedGen:C1970161,OMIM:611134,Orphanet:564|MONDO:MONDO:0014442,MedGen:C2673874,OMIM:615991,Orphanet:110|MONDO:MONDO:0012723,MedGen:C1857821,OMIM:611755,Orphanet:65|MONDO:MONDO:0012433,MedGen:C1857779,OMIM:610189,Orphanet:3156|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.74	T	0.466	P	0.048	B	0.000	D	1.000	D	-0.345	N	0.0	T	-0.460	T	0.241	T	0.394	3.209	16.75	4.28	2.590	2.734	5.178	0.372	.	0.0073	0.0113818	0.0119	0.0024	0.0052	0.0070	0.0017	0.0082	0.0058	0.0441	0.0107696	1665	154602	rs61941020	0.0099	0.0100	0.0089	0.0109	0.0403	0.0098	0.0097	0.0392	0.0387	0.0018	0.0052	0.0065	0.0060	0.0029	0.0211	0.0085	0.0121	0.0403	0.0071	0.0071	0.0068	0.0074	0.0430	0.0068	0.0066	0.0381	0.0363	0.0017	0	0.0098	0.0055	0.0084	0.0025	0.0137	0.0080	0.0091	0.0430	0.221	0.18889	T	0.275	0.22016	T	0.466	0.36465	P	0.048	0.24975	B	0.000002	0.62929	D	0.056184	0.732881	0.33738	D	1.61	0.41143	L	0.0	0.91478	T	0.11	0.05917	N	0.078	0.28028	-0.4601	0.70064	T	0.241	0.60929	T	10	0.0040839016	0.00080	T	.	.	.	0.372	0.69102	.	.	.	.	0.13677737081922756	0.13601	0.0587496926462	0.06521	0.46582710743	0.34108	T	0.113382	0.43038	T	-0.258765	0.13044	T	-0.112339	0.62424	T	0.0160605788174674	0.00385	T	0.891311	0.62583	D	0.053998865	0.10300	0.056384906	0.10063	0.05842994	0.11753	0.064280845	0.12861	-3.233	0.12888	T	0.2024184062002529	0.26922	0.114	0.27252	B	.;.;.	.;.;.	3.444251	0.47929	22.5	0.99851851418650239	0.93102	0.66180	0.32989	D	AEFBI	0.129836	0.24816	N	-0.208458088981086	0.32787	1.852941	-0.00546298069500753	0.39467	2.340608	0.952729764345514	0.28032	0.732398	0.92422	0	0.653731	0.59785	0	0.653264	0.51672	0	0.727631	0.95156	0	.	.	5.19	4.28	0.50183	2.760000	0.47262	1.427000	0.26414	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.7111:0.0:0.2889	5.178	0.14473	876	0.30350	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.04762	1348.11	27	chr12	88079219	.	C	T	1348.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.98;DP=624;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=16.44;ReadPosRankSum=2.26;SOR=0.596	GT:AD:DP:GQ:PL	0/0:23,0:23:54:0,54,810	19	0	2	0
chr12	88106877	88106877	G	A	exonic	CEP290	.	nonsynonymous SNV	CEP290:NM_025114:exon25:c.C2615T:p.S872L,	Joubert syndrome 5, Autosomal recessive;Leber congenital amaurosis 10;Meckel syndrome 4, Autosomal recessive;Senior-Loken syndrome 6, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	956981	not_provided|Nephronophthisis|Familial_aplasia_of_the_vermis|Meckel-Gruber_syndrome|Leber_congenital_amaurosis_10|Bardet-Biedl_syndrome_14|Senior-Loken_syndrome_6|Meckel_syndrome,_type_4|Joubert_syndrome_5|Leber_congenital_amaurosis|Intellectual_disability|CEP290-related_disorder	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564|MONDO:MONDO:0012723,MedGen:C1857821,OMIM:611755,Orphanet:65|MONDO:MONDO:0014442,MedGen:C2673874,OMIM:615991,Orphanet:110|MONDO:MONDO:0012433,MedGen:C1857779,OMIM:610189,Orphanet:3156|MONDO:MONDO:0012626,MedGen:C1970161,OMIM:611134,Orphanet:564|MONDO:MONDO:0012432,MedGen:C1857780,OMIM:610188,Orphanet:2318|MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MedGen:CN239314	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.32	T	0.837	P	0.236	B	0.005	N	1.000	D	0.895	L	2.03	T	-1.109	T	0.039	T	0.249	3.085	16.30	5.89	2.782	5.834	16.501	0.067	0.00719299478929	0.0003	0.000399361	0.0004	0.0001	0	0.0003	0	0.0003	0	0.0010	0.0002329	36	154602	rs373341530	0.0002	0.0002	0.0002	0.0003	0.0014	0.0002	0.0002	0.0012	0.0011	2.999e-05	6.86e-05	0	0.0002	0	0	0.0002	0.0002	0.0014	0.0003	0.0003	0.0003	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	7.234e-05	0	0.0002	0	0.0002	0	0	0.0004	0	0.0021	0.043	0.41364	D	0.039	0.51112	D	0.837	0.46346	P	0.236	0.38470	B	0.005391	0.32840	N	0.293216	0.598506	0.81001	D	1.7	0.43825	L	2.03	0.20959	T	-2.65	0.56787	D	0.22	0.24758	-1.1092	0.03139	T	0.039	0.16720	T	10	0.029752225	0.01101	T	0.007193	0.19061	T	0.067	0.19503	.	.	0.445210270852	0.44144	0.2065769744502968	0.20573	0.0702682139411	0.07872	0.360459089279	0.19453	T	0.363886	0.72956	T	-0.433712	0.01408	T	-0.446214	0.28114	T	0.0840953545292668	0.10502	T	0.926307	0.72903	D	0.19218196	0.40878	0.17543435	0.40009	0.19218196	0.40877	0.17543435	0.40008	-7.057	0.54449	T	0.20738423840517686	0.27717	0.089	0.18122	B	.;.;.	.;.;.	4.205414	0.63487	24.6	0.99795565500591166	0.88106	0.97462	0.74905	D	AEFBI	0.709356	0.66347	D	0.282194196185829	0.55244	3.688746	0.397394384090183	0.61403	4.340043	0.999908331550125	0.45458	0.651	0.46895	0	0.708844	0.79440	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	5.89	5.89	0.94758	5.947000	0.69957	11.844000	0.97886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.0:0.1307:0.8693:0.0	16.501	0.84103	876	0.30350	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1885.98	34	chr12	88106877	.	G	A	1885.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.110e+00;DP=866;ExcessHet=0.0000;FS=3.687;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.64;ReadPosRankSum=-8.620e-01;SOR=0.456	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1206	20	0	1	0
chr12	88125343	88125343	A	C	exonic	CEP290	.	nonsynonymous SNV	CEP290:NM_025114:exon13:c.T1092G:p.I364M,	Joubert syndrome 5, Autosomal recessive;Leber congenital amaurosis 10;Meckel syndrome 4, Autosomal recessive;Senior-Loken syndrome 6, Autosomal recessive	.	286	1232	3	1	0	5	0.00202511	.	.	265487	not_specified|CEP290-related_disorder|Retinitis_pigmentosa|Bardet-Biedl_syndrome_14|Senior-Loken_syndrome_6|Kidney_disorder|Stuve-Wiedemann_syndrome_2|not_provided|Inborn_genetic_diseases|Leber_congenital_amaurosis|Meckel-Gruber_syndrome|Familial_aplasia_of_the_vermis|Nephronophthisis|Meckel_syndrome,_type_4|Leber_congenital_amaurosis_10|Joubert_syndrome_5	MedGen:CN169374|MedGen:CN239314|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0014442,MedGen:C2673874,OMIM:615991,Orphanet:110|MONDO:MONDO:0012433,MedGen:C1857779,OMIM:610189,Orphanet:3156|Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658|MONDO:MONDO:0030756,MedGen:C5676919,OMIM:619751|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MONDO:MONDO:0012626,MedGen:C1970161,OMIM:611134,Orphanet:564|MONDO:MONDO:0012723,MedGen:C1857821,OMIM:611755,Orphanet:65|MONDO:MONDO:0012432,MedGen:C1857780,OMIM:610188,Orphanet:2318	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.997	D	0.000	D	1.000	D	1.995	M	0.49	T	-0.638	T	0.243	T	0.673	3.643	18.52	4.29	2.047	3.404	3.302	0.213	0.0326795713933	0.0002	0.00139776	0.0020	0	0	0	0	0.0010	0	0.0048	0.0005433	84	154602	rs201988582	0.0005	0.0006	0.0004	0.0006	0.0039	0.0005	0.0005	0.0028	0.0026	0	0.0004	0	3.542e-05	4.588e-05	0.0039	0.0004	0.0007	0.0032	0.0007	0.0006	0.0006	0.0007	0.0031	0.0005	0.0005	0.0019	0.0015	7.223e-05	0	0.0006	0	0.0004	0	0.0034	0.0010	0.0019	0.0031	0.0	0.91255	D	0.014	0.62352	D	1.0	0.90584	D	0.997	0.86255	D	0.000014	0.62929	D	0.065902	0.99591	0.81001	D	2.42	0.70002	M	0.49	0.55775	T	-1.54	0.37375	N	0.802	0.84817	-0.6385	0.63209	T	0.243	0.61107	T	10	0.008333027	0.00189	T	0.03268	0.54438	D	0.213	0.50496	.	.	0.695477304189	0.69285	0.4610457371032954	0.46022	0.346408278094	0.36549	0.644531369209	0.59209	T	0.445526	0.78851	T	-0.221924	0.17733	T	-0.0933447	0.63909	T	0.0596651804224956	0.07115	T	0.889011	0.64401	D	0.41751882	0.61926	0.28417474	0.54414	0.41751882	0.61927	0.28417474	0.54413	-7.24	0.55768	T	0.7060571792666084	0.78568	0.211	0.43949	B	.;.;.;.	.;.;.;.	3.831699	0.55391	23.6	0.99641056332275402	0.76695	0.81923	0.41233	D	AEFGBI	0.321190	0.42406	N	0.594676514247452	0.72841	5.869719	0.565332388512811	0.72470	5.815016	0.221793946323817	0.18363	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.43	4.29	0.50359	3.499000	0.53071	3.933000	0.40549	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.6476:0.0:0.1609:0.1915	3.302	0.06577	842	0.36989	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	323.98	34	chr12	88125343	.	A	C	323.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.09;DP=659;ExcessHet=0.0000;FS=2.869;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.31;ReadPosRankSum=-6.210e-01;SOR=1.244	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,993	20	0	1	0
chr12	89471617	89471617	G	C	exonic	POC1B	.	nonsynonymous SNV	POC1B:NM_001199777:exon5:c.C547G:p.Q183E	Cone-rod dystrophy 20, Autosomal recessive	.	435	1079	8	0	0	8	0.00369344	.	.	822090	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.58	T	0.334	B	0.197	B	0.000	D	1.000	D	0.075	N	0.28	T	-0.995	T	0.113	T	0.377	2.472	14.22	6.02	2.857	5.072	16.150	0.086	0.0142541269415	0.0004	0.000199681	0.0004	0	0	0.0001	0	0.0005	0.0022	0.0007	0.0003622	56	154602	rs145981936	0.0002	0.0002	0.0002	0.0002	0.0049	0.0002	0.0002	0.0035	0.0030	9.107e-05	0.0004	0.0029	2.53e-05	0	0.0049	9.244e-05	0.0006	0.0005	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	4.816e-05	0	0.0008	0.0020	0	0	0.0068	0.0002	0.0009	0.0006	0.01	0.56456	D	0.049	0.48336	D	0.334	0.33305	B	0.197	0.36707	B	0.000014	0.62929	D	0.155036	1	0.81001	D	0.735	0.18861	N	0.28	0.59037	T	-1.83	0.45949	N	0.25	0.31253	-0.9948	0.31352	T	0.113	0.40307	T	10	0.02311951	0.00596	T	0.014254	0.34240	T	0.086	0.25016	.	.	0.586756053714	0.58349	0.15780116846125739	0.15701	0.191270352614	0.21451	.	.	.	0.069725	0.33781	T	-0.262084	0.12658	T	-0.277982	0.47011	T	0.0364510650855852	0.03060	T	0.90231	0.77758	D	0.22675624	0.45363	0.3116786	0.57173	0.24818182	0.47803	0.26886395	0.52759	-7.163	0.55215	T	0.2510777077888485	0.33979	0.115	0.22861	B	.;.;.	.;.;.	3.665034	0.52089	23.2	0.97386164742167591	0.33696	0.99130	0.91667	D	AEFBI	0.719247	0.67019	D	0.0399781027656686	0.43683	2.656442	0.262079053021299	0.53339	3.503387	0.999995378323134	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.02	6.02	0.97559	5.040000	0.63987	8.575000	0.77622	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8588:0.1412	16.150	0.81423	859	0.33891	WD40-repeat-containing domain;WD40-repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1189.98	34	chr12	89471617	.	G	C	1189.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.140e-01;DP=797;ExcessHet=0.0000;FS=0.746;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=0.554;SOR=0.820	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1264	20	0	1	0
chr12	89491946	89491946	G	A	exonic	POC1B	.	nonsynonymous SNV	POC1B:NM_001199777:exon3:c.C316T:p.R106C	Cone-rod dystrophy 20, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.5	P	0.096	B	0.000	D	1.000	D	1.795	L	0.06	T	-0.820	T	0.171	T	0.85	3.438	17.63	4.58	2.676	5.406	8.667	0.321	0.0296361415819	.	.	1.749e-05	0	8.702e-05	0	0	0	0	8.661e-05	1.29e-05	2	154602	rs759962945	1.87e-05	2.668e-05	1.852e-05	1.888e-05	0.0001	1.301e-05	1.105e-05	3.541e-05	2.144e-05	0	3.291e-05	0	0.0001	0	0	1.482e-05	1.756e-05	5.361e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.46129	D	0.093	0.92824	T	0.5	0.37145	P	0.096	0.30313	B	0.000004	0.62929	D	0.102279	1	0.81001	D	1.59	0.40313	L	0.06	0.61798	T	-7.24	0.96005	D	0.407	0.45709	-0.8196	0.53959	T	0.171	0.51245	T	10	0.30270848	0.47806	T	0.029636	0.52109	D	0.321	0.64318	0.58	0.70604	0.688294374877	0.68562	0.47486908772652975	0.47405	0.101699149818	0.11504	.	.	.	0.261891	0.63341	T	0.225159	0.76263	D	0.0856486	0.75954	D	0.784017503261566	0.45303	D	0.982268	0.94010	D	0.37001753	0.58586	0.305403	0.56567	0.37001753	0.58587	0.305403	0.56566	-10.407	0.76311	D	0.35033846036965155	0.44758	0.277	0.60232	B	.;.;.;.	.;.;.;.	5.151441	0.86283	28.9	0.99933059127400037	0.99488	0.93641	0.58776	D	AEFBI	0.545143	0.55978	D	0.223792278871349	0.52354	3.410105	0.328238345266189	0.57204	3.885463	0.83575685873704	0.24775	0.732398	0.92422	0	0.633656	0.55848	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.66	4.58	0.56077	4.143000	0.57817	9.716000	0.81349	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0821:0.0:0.6649:0.253	8.667	0.33289	923	0.18507	WD40-repeat-containing domain;WD40-repeat-containing domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	980.98	33	chr12	89491946	.	G	A	980.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.60;DP=883;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.79;ReadPosRankSum=0.596;SOR=0.716	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1350	20	0	1	0
chr12	90972869	90972869	C	T	exonic	EPYC	.	nonsynonymous SNV	EPYC:NM_004950:exon4:c.G452A:p.R151H,	.	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.987	D	0.000	D	1.000	D	0.935	L	4.27	T	-1.100	T	0.025	T	0.895	5.486	35	5.98	2.838	7.487	20.443	0.438	0.0767992588811	.	0.000399361	0.0003	0	8.669e-05	0	0	8.996e-05	0.0055	0.0018	0.0002781	43	154602	rs577030828	0.0002	0.0002	8.443e-05	0.0002	0.0014	0.0001	0.0001	0.0012	0.0011	5.978e-05	0	0	2.524e-05	0	0.0005	7.107e-05	0.0003	0.0014	0.0001	0.0001	0.0001	0.0001	0.0010	7.582e-05	6.285e-05	0.0004	0.0003	2.41e-05	0	6.549e-05	0	0	0	0	0.0001	0.0014	0.0010	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.39	0.34934	L	4.27	0.02513	T	-4.66	0.79571	D	0.794	0.79022	-1.0998	0.04116	T	0.025	0.10866	T	10	0.075045854	0.11550	T	0.076799	0.72618	D	0.438	0.74235	.	.	0.843909583617	0.84241	0.6971677499008279	0.69657	0.0953457349355	0.10770	0.709846019745	0.68571	T	0.171824	0.52010	T	-0.116598	0.33681	T	0.02436	0.71912	D	0.188262343406677	0.19741	T	0.989101	0.96464	D	0.70729965	0.78459	0.6349588	0.78691	0.70729965	0.78460	0.6349588	0.78692	-12.424	0.86856	D	.	.	0.839	0.79209	P	.;.	.;.	5.661615	0.92878	33	0.99955420818358043	0.99969	0.98386	0.82248	D	AEFBI	0.935052	0.92934	D	0.753992921862142	0.83165	7.946293	0.798754727509044	0.89707	10.08714	0.999999999998681	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.98	5.98	0.97147	7.568000	0.81546	7.674000	0.64943	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.443	0.99121	925	0.17918	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1260.98	34	chr12	90972869	.	C	T	1260.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=802;ExcessHet=0.0000;FS=1.553;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=1.51;SOR=0.900	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1331	20	0	1	0
chr12	92736528	92736528	C	T	exonic	PLEKHG7	.	nonsynonymous SNV	PLEKHG7:NM_001377329:exon6:c.C746T:p.S249F,	.	.	1308	213	0	1	0	2	0.0046729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	0.0002393	37	154602	rs374119571	0.0009	0.0007	0.0009	0.0010	0.0069	0.0009	0.0009	0.0046	0.0038	0.0002	0.0020	0.0101	3.77e-05	0.0002	0.0069	0.0008	0.0021	0.0004	0.0013	0.0013	0.0013	0.0013	0.0025	0.0011	0.0011	0.0019	0.0017	0.0003	0	0.0025	0.0112	0	0.0006	0.0068	0.0012	0.0043	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02568385	0.00755	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.612239	0.23293	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.46002	B	.	.	3.763770	0.54020	23.4	0.58610663107701022	0.06032	0.79698	0.39543	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.990451401318075	0.32159	0.164513	0.03853	0	0.195528	0.04277	0	0.060301	0.00762	0	0.062806	0.01542	0	0.776784	0.45955	5.43	4.54	0.55220	3.835000	0.55508	2.559000	0.33304	-0.176000	0.10722	0.995000	0.38783	0.980000	0.30356	0.114000	0.18915	0.0:0.9223:0.0:0.0777	13.199	0.59182	945	0.12563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09091	85.29	1	chr12	92736528	.	C	T	85.29	.	AC=2;AF=0.091;AN=22;DP=71;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3472;MLEAC=3;MLEAF=0.136;MQ=60.00;QD=21.32;SOR=0.693	GT:AD:DP:GQ:PL	./.	10	1	0	10
chr12	94279495	94279497	AAT	-	exonic	PLXNC1	.	nonframeshift deletion	PLXNC1:NM_005761:exon22:c.3621_3623del:p.K1207_I1208delinsN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1615.94	33	chr12	94279494	.	AAAT	A	1615.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.142;DP=762;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.47;ReadPosRankSum=-1.272e+00;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1167	20	0	1	0
chr12	95057644	95057644	C	T	splicing	NR2C1	NM_003297:exon7:c.693-1G>A;NM_001032287:exon7:c.693-1G>A;NM_001127362:exon7:c.693-1G>A	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.651	18.56	5.6	2.646	6.862	19.619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.421294	0.91087	D	0.367383	0.90976	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.472300	0.91285	32	0.99539880796564151	0.70461	0.99587	0.97729	D	AEFDBIJ	.	.	.	1.16087175874797	0.99108	20.71613	1.01267827571923	0.98857	19.63785	0.999999991038807	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.137589	0.03823	0	0.117559	0.03655	0	0.988867	0.97604	5.6	5.6	0.84997	5.479000	0.66538	7.634000	0.62871	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.842000	0.39752	0.0:1.0:0.0:0.0	19.619	0.95641	930	0.16408	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2513.98	33	chr12	95057644	.	C	T	2513.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.020e-01;DP=891;ExcessHet=0.0000;FS=4.251;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.44;ReadPosRankSum=-3.870e-01;SOR=0.451	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1188	20	0	1	0
chr12	95266379	95266379	T	G	exonic	VEZT	.	nonsynonymous SNV	VEZT:NM_001352101:exon3:c.T13G:p.F5V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.064	B	0.038	B	0.000	D	0.964	D	1.7	L	1.21	T	-1.046	T	0.089	T	0.431	1.312	10.30	2.95	0.303	1.371	3.026	0.093	0.0151389653344	.	.	8.282e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs762412270	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	6.57e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.086	0.37118	T	0.221	0.31026	T	0.007	0.14184	B	0.008	0.13708	B	0.000160	0.49130	D	0.217597	0.96442	0.38406	D	1.39	0.34934	L	1.21	0.48142	T	-1.31	0.64939	N	0.328	0.36884	-1.0461	0.15505	T	0.089	0.34408	T	10	0.16465306	0.30798	T	0.015139	0.35698	T	0.093	0.26882	0.375	0.38830	0.521601224155	0.51804	0.4364331803380585	0.43560	0.16307591956	0.18400	0.440813243389	0.30688	T	0.099394	0.44709	T	-0.0871518	0.38544	T	-0.362964	0.37710	T	0.297953156225759	0.24919	T	0.744526	0.38228	T	0.059242506	0.12017	0.057038173	0.10300	0.059242506	0.12017	0.057038173	0.10299	-2.842	0.08576	T	.	.	0.094	0.21653	B	.;.;.;.;.;.	.;.;.;.;.;.	3.427803	0.47621	22.5	0.9436610201740695	0.24728	0.90962	0.52592	D	AEFBIJ	0.449204	0.50411	N	-0.370630692613941	0.26521	1.448033	-0.244434980640901	0.29964	1.683056	0.179756062416112	0.17854	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.39	2.95	0.33285	1.555000	0.35884	2.796000	0.34824	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.892000	0.42986	0.2361:0.0687:0.1223:0.5729	3.026	0.05721	848	0.35897	Myosin-binding domain;.;.;.;.;Myosin-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	802.98	34	chr12	95266379	.	T	G	802.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.384e+00;DP=776;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=-1.152e+00;SOR=0.780	GT:AD:DP:GQ:PL	0/1:34,36:70:99:817,0,871	20	0	1	0
chr12	95282384	95282385	CA	-	exonic	VEZT	.	frameshift deletion	VEZT:NM_001352101:exon6:c.636_637del:p.N213Ffs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	159.94	48	chr12	95282383	.	CCA	C	159.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.879e+00;DP=949;ExcessHet=0.0000;FS=53.449;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.26;ReadPosRankSum=2.52;SOR=6.110	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1278	20	0	1	0
chr12	95282386	95282386	-	GG	exonic	VEZT	.	frameshift insertion	VEZT:NM_001352101:exon6:c.638_639insGG:p.N213Kfs*22	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	160.29	39	chr12	95282386	.	A	AGG	160.29	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-4.747e+00;DP=1298;ExcessHet=0.0000;FS=53.449;InbreedingCoeff=-0.0372;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=1.26;ReadPosRankSum=2.48;SOR=6.110	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1278	19	0	1	1
chr12	95787321	95787321	G	A	exonic	NTN4	.	nonsynonymous SNV	NTN4:NM_001329700:exon2:c.C203T:p.T68M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.93	P	0.436	B	0.049	N	0.998	N	1.1	L	-0.99	T	-0.730	T	0.278	T	0.238	2.811	15.36	4.88	1.439	2.462	10.791	0.222	0.0514050968633	.	.	1.648e-05	0	0	0.0001	0	1.499e-05	0	0	1.29e-05	2	154602	rs749560184	1.231e-05	1.231e-05	9.528e-06	1.513e-05	0.0002	7.7e-06	6.35e-06	6.51e-05	4.449e-05	0	0	0	0.0002	0	0	4.496e-06	6.623e-05	3.478e-05	1.971e-05	1.97e-05	1.284e-05	2.69e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0.0002	0.029	0.45756	D	0.085	0.42086	T	0.93	0.51791	P	0.436	0.45556	B	0.049147	0.23187	N	0.470192	0.997809	0.22499	N	1.04	0.26193	L	-0.99	0.75911	T	-1.02	0.30346	N	0.168	0.24634	-0.7297	0.58979	T	0.278	0.65017	T	10	0.14392477	0.27321	T	0.051405	0.64647	D	0.222	0.51872	0.486	0.56939	0.531923830949	0.52841	0.29885488615444494	0.29798	0.631368366302	0.57095	0.331256240606	0.15124	T	0.150479	0.61009	T	-0.256714	0.13287	T	-0.314379	0.43187	T	0.125622923601934	0.14972	T	0.873613	0.58243	D	0.0738272	0.16523	0.09299517	0.21943	0.0738272	0.16523	0.09299517	0.21943	-3.545	0.18759	T	.	.	0.077	0.12132	B	.;.;.;.;.	.;.;.;.;.	2.990042	0.39914	21.1	0.99825195997958793	0.90764	0.55147	0.29791	D	AEFDBCI	0.444606	0.50143	N	-0.0889278494946659	0.37877	2.210077	-0.125498496961015	0.34365	1.975967	0.999999999909062	0.74766	0.722319	0.85440	0	0.627178	0.54094	0	0.401104	0.06395	2	0.735409	0.98432	0	.	.	5.77	4.88	0.63131	2.178000	0.42148	5.741000	0.49573	0.676000	0.76740	0.032000	0.20554	0.993000	0.31925	0.306000	0.24642	0.1441:0.0:0.8559:0.0	10.791	0.45635	835	0.38313	Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal;.;.;.;Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2019.98	35	chr12	95787321	.	G	A	2019.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.921;DP=896;ExcessHet=0.0000;FS=2.715;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.10;ReadPosRankSum=-3.470e-01;SOR=0.912	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr12	95787450	95787450	C	A	exonic	NTN4	.	nonsynonymous SNV	NTN4:NM_001329700:exon2:c.G74T:p.G25V	.	.	428	1080	14	0	0	14	0.00643974	.	.	702553	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.32	T	0.589	P	0.238	B	0.001	D	1.000	D	0.695	N	1.31	T	-1.105	T	0.043	T	0.541	1.820	12.05	5.77	2.722	0.994	10.350	0.130	0.00970468181	0.0045	0.00159744	0.0045	0.0005	0.0028	0	0.0020	0.0065	0.0034	0.0039	0.0042302	654	154602	rs34684875	0.0044	0.0045	0.0044	0.0045	0.0120	0.0044	0.0043	0.0097	0.0089	0.0010	0.0036	0.0158	2.519e-05	0.0024	0.0120	0.0045	0.0050	0.0047	0.0037	0.0037	0.0037	0.0037	0.0052	0.0034	0.0033	0.0045	0.0044	0.0010	0.0186	0.0032	0.0161	0	0.0019	0.0034	0.0050	0.0052	0.0052	0.084	0.36113	T	0.029	0.54934	D	0.454	0.39027	P	0.12	0.38539	B	0.000577	0.43250	D	0.236063	0.999994	0.81001	D	0.805	0.20218	L	1.29	0.35775	T	-1.65	0.39503	N	0.478	0.58287	-1.1048	0.03557	T	0.043	0.18285	T	10	0.004955709	0.00106	T	0.009705	0.25336	T	0.130	0.35528	.	.	0.363336886782	0.35939	0.5687383526311889	0.56801	0.548412643758	0.51783	0.557876050472	0.46968	T	0.012827	0.11203	T	-0.412443	0.01915	T	-0.362888	0.37717	T	0.0163043690718834	0.00401	T	0.765423	0.39305	T	0.15262194	0.34636	0.10035267	0.23991	0.15262194	0.34636	0.10035267	0.23991	-5.577	0.42619	T	.	.	0.114	0.25429	B	.;.	.;.	2.366181	0.30352	18.41	0.97782824411690028	0.35944	0.51789	0.28978	D	AEFDBCI	0.317095	0.42119	N	-0.279045214885687	0.29959	1.666064	-0.2161454345777	0.30956	1.747548	0.999999997204823	0.74766	0.722319	0.85440	0	0.563428	0.19063	0	0.590023	0.30420	0	0.735409	0.98432	0	.	.	5.77	5.77	0.91077	1.028000	0.29734	1.105000	0.24105	0.599000	0.40250	0.000000	0.06391	0.063000	0.22074	0.020000	0.11549	0.0:0.7935:0.1356:0.071	10.350	0.43111	835	0.38313	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2451.98	35	chr12	95787450	.	C	A	2451.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.462e+00;DP=1005;ExcessHet=0.0000;FS=0.960;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.58;ReadPosRankSum=-1.650e+00;SOR=0.626	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr12	95872345	95872345	C	T	exonic	CCDC38	.	nonsynonymous SNV	CCDC38:NM_182496:exon14:c.G1394A:p.R465H,	.	.	.	.	.	.	.	.	.	.	.	3295755	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.998	D	0.001	D	1.000	D	1.54	L	1.38	T	-0.903	T	0.174	T	0.576	3.805	19.32	5.63	2.812	2.918	12.204	0.154	0.0293846183528	.	.	8.237e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs777275253	4.241e-05	4.241e-05	3.675e-05	4.813e-05	0.0005	3.376e-05	3.065e-05	0.0001	7.541e-05	5.974e-05	0	0	0	0	0.0005	4.766e-05	4.967e-05	1.159e-05	4.597e-05	4.594e-05	2.57e-05	6.716e-05	0.0002	2.108e-05	1.526e-05	2.847e-05	1.858e-05	2.407e-05	0	0	0	0	0	0	7.351e-05	0	0.0002	0.005	0.63226	D	0.005	0.72224	D	1.0	0.90584	D	0.998	0.88582	D	0.000603	0.42945	D	0.198650	0.935519	0.81001	D	1.965	0.53209	M	1.38	0.34050	T	-2.8	0.59226	D	0.536	0.56403	-0.9033	0.47639	T	0.174	0.51753	T	10	0.53462553	0.63377	D	0.029385	0.51906	D	0.154	0.40340	0.305	0.27485	0.173771789658	0.16945	0.21110162684666472	0.21026	0.384264492685	0.39732	0.53833013773	0.44210	T	0.059204	0.31052	T	-0.183126	0.23273	T	-0.319297	0.42652	T	0.854873418807983	0.50591	D	0.868113	0.56980	D	0.18204029	0.39403	0.13661934	0.32678	0.18204029	0.39403	0.13661934	0.32677	-6.4	0.49509	T	.	.	0.108	0.20313	B	.	.	4.657700	0.74315	26.1	0.99940664547643632	0.99767	0.76285	0.37402	D	AEFBI	0.195843	0.32286	N	0.572392966454314	0.71455	5.653569	0.558522839901957	0.71992	5.740199	0.259051814551795	0.18768	0.522611	0.21652	0	0.54472	0.11627	0	0.514364	0.09456	0	0.613276	0.41899	0	.	.	5.63	5.63	0.86108	1.894000	0.39401	3.946000	0.40638	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.079000	0.17189	0.0:0.9206:0.0:0.0794	12.204	0.53649	604	0.67577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1324.98	40	chr12	95872345	.	C	T	1324.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.068e+00;DP=834;ExcessHet=0.0000;FS=3.533;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=-6.130e-01;SOR=0.439	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1174	20	0	1	0
chr12	95995846	95995880	AGCTGCGCGTCCTGGCAGGGCACTGCCAGCCATTC	-	exonic	HAL	.	frameshift deletion	HAL:NM_001258334:exon2:c.31_65del:p.E11Hfs*17	.	.	422	1093	7	0	0	7	0.00319197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	901.94	34	chr12	95995845	.	GAGCTGCGCGTCCTGGCAGGGCACTGCCAGCCATTC	G	901.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.198;DP=751;ExcessHet=0.0000;FS=4.202;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.40;ReadPosRankSum=0.093;SOR=1.329	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1124	20	0	1	0
chr12	96504012	96504012	A	-	exonic	CFAP54	.	frameshift deletion	CFAP54:NM_001306084:exon3:c.550delA:p.T185Lfs*9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	969.94	34	chr12	96504011	.	TA	T	969.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.403;DP=786;ExcessHet=0.0000;FS=2.066;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=-1.105e+00;SOR=0.460	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	20	0	1	0
chr12	96644252	96644252	A	G	exonic	CFAP54	.	nonsynonymous SNV	CFAP54:NM_001306084:exon33:c.A4391G:p.Y1464C	.	.	435	1006	76	5	0	86	0.0409914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.999	D	0.939	D	.	.	1.000	N	0.69	N	.	.	-1.056	T	0.101	T	0.258	2.331	13.75	2.03	0.407	0.929	4.068	0.045	.	.	0.00539137	0.0157	0.0018	0.0053	0	0	0.0033	0.0379	0.0228	0.0018111	280	154602	rs139585468	0.0034	0.0032	0.0028	0.0041	0.0227	0.0033	0.0033	0.0218	0.0214	0.0004	0.0017	0.0027	2.8e-05	0.0003	0.0167	0.0023	0.0045	0.0227	0.0023	0.0023	0.0022	0.0025	0.0207	0.0021	0.0020	0.0174	0.0162	0.0004	0	0.0021	0.0026	0	0.0004	0.0204	0.0025	0.0062	0.0207	0.098	0.30800	T	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-2.53	0.54864	D	0.181	0.19593	-1.0564	0.12672	T	0.101	0.37316	T	8	0.004707128	0.00099	T	.	.	.	0.045	0.12272	.	.	.	.	0.11571836064207504	0.11499	0.21363709283	0.23881	.	.	.	0.036455	0.24111	T	-0.478618	0.00753	T	-0.441354	0.28656	T	0.0568574764330956	0.06664	T	0.59504	0.22051	T	0.06205746	0.12919	0.075704	0.16694	0.06205746	0.12919	0.075704	0.16693	-3.584	0.17625	T	.	.	0.123	0.25753	B	.	.	1.922702	0.24423	16.39	0.98221739336697234	0.39307	0.04543	0.10179	N	AEFDBI	0.068212	0.13445	N	-0.294965559260088	0.29341	1.626314	-0.460629481799266	0.23248	1.26682	3.00497051045635E-6	0.01202	0.615465	0.37627	0	0.573888	0.26702	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.68	2.03	0.25714	1.134000	0.31055	1.238000	0.25088	0.740000	0.86194	0.002000	0.15269	0.000000	0.08366	0.007000	0.07825	0.6819:0.0:0.1651:0.153	4.068	0.09346	610	0.67008	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1584.98	33	chr12	96644252	.	A	G	1584.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=794;ExcessHet=0.0000;FS=1.625;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.68;ReadPosRankSum=1.06;SOR=0.510	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1112	20	0	1	0
chr12	96720499	96720499	A	G	exonic	CFAP54	.	nonsynonymous SNV	CFAP54:NM_001306084:exon50:c.A6899G:p.E2300G	.	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	0.599	N	2.095	M	.	.	-0.312	T	0.303	T	0.871	3.086	16.30	5.04	2.041	4.783	11.478	0.280	0.0659308365253	7.7e-05	.	3.682e-05	0.0003	0	0	0	0	0	7.789e-05	1.94e-05	3	154602	rs148002682	2.76e-05	3.078e-05	3.43e-05	2.082e-05	0.0006	2.08e-05	1.832e-05	0.0004	0.0004	0.0006	0	0	0	0	0.0002	0	0.0002	4.737e-05	8.55e-05	8.539e-05	9.001e-05	8.077e-05	0.0003	4.962e-05	3.966e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.005	0.72224	D	.	.	.	.	.	.	0.000022	0.55875	D	0.000000	0.598502	0.30960	N	.	.	.	.	.	.	-4.19	0.75615	D	0.63	0.64393	-0.3120	0.74648	T	0.303	0.67399	T	9	0.5537646	0.64402	D	0.065931	0.69726	D	0.280	0.59740	.	.	0.214338557667	0.21045	0.4327475006742987	0.43191	0.0397352770973	0.04241	.	.	.	0.324332	0.69516	T	0.209287	0.74763	D	0.347563	0.90221	D	0.905921578407288	0.55980	D	0.676832	0.28555	T	0.398272	0.60613	0.5629525	0.74708	0.398272	0.60613	0.5629525	0.74709	-9.388	0.70160	D	.	.	0.496	0.64403	A	.	.	5.095078	0.85098	28.5	0.99902713611024208	0.97426	0.78201	0.38547	D	AEFDGBHCI	0.621377	0.60609	D	0.549540600785994	0.70055	5.445525	0.471188078912579	0.66089	4.906846	0.999999999499718	0.74766	0.40479	0.06251	1	0.171818	0.04012	3	0.600433	0.31921	0	0.665054	0.64577	0	.	.	5.04	5.04	0.67293	5.107000	0.64439	11.067000	0.85526	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.325000	0.25087	1.0:0.0:0.0:0.0	11.478	0.49558	570	0.70478	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1566.98	33	chr12	96720499	.	A	G	1566.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.037e+00;DP=856;ExcessHet=0.0000;FS=8.004;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=0.541;SOR=0.257	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr12	96743786	96743786	C	T	exonic	CFAP54	.	nonsynonymous SNV	CFAP54:NM_001306084:exon54:c.C7433T:p.T2478I	.	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.02	B	0.016	B	0.000	D	0.885	N	0.95	L	.	.	-1.038	T	0.083	T	0.306	0.279	5.510	3.45	1.327	1.405	10.394	0.080	0.00342403572207	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1311522490	8.211e-06	8.209e-06	6.808e-06	9.628e-06	6.714e-05	4.38e-06	3.46e-06	1.781e-05	8.93e-06	0	6.714e-05	0	0	0	0	4.497e-06	6.625e-05	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	0.0001	5.24e-06	2.45e-06	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	1.47e-05	0	0	0.348	0.12386	T	0.138	0.33780	T	.	.	.	.	.	.	0.000055	0.53742	D	0.120612	0.885179	0.27980	N	.	.	.	.	.	.	-2.07	0.47344	N	0.324	0.36464	-1.0385	0.17771	T	0.083	0.32499	T	9	0.10783225	0.20047	T	0.003424	0.07694	T	0.080	0.23350	.	.	0.0482279557977	0.04254	0.45945689023105674	0.45863	0.0374687606016	0.03975	.	.	.	0.048456	0.28023	T	-0.233397	0.16201	T	-0.397188	0.33711	T	0.0924310194330893	0.11503	T	0.558444	0.19458	T	0.09084096	0.21269	0.11673028	0.28180	0.09084096	0.21269	0.11673028	0.28179	-3.646	0.18524	T	.	.	0.145	0.31857	B	.	.	1.724929	0.21960	15.42	0.97041557043122095	0.32113	0.59622	0.30966	D	AEFDGBIJ	0.059415	0.11219	N	-0.446483569771261	0.23860	1.284265	-0.317743975529392	0.27525	1.527986	0.770196814214407	0.23659	0.516213	0.21343	1	0.588015	0.36545	0	0.573888	0.23631	0	0.704051	0.69138	0	.	.	5.52	3.45	0.38602	1.459000	0.34844	2.168000	0.31032	0.599000	0.40250	0.874000	0.30870	0.979000	0.30280	0.088000	0.17685	0.0:0.791:0.0:0.209	10.394	0.43374	613	0.66686	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1301.98	34	chr12	96743786	.	C	T	1301.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=827;ExcessHet=0.0000;FS=0.693;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.22;ReadPosRankSum=0.725;SOR=0.641	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1139	20	0	1	0
chr12	96829068	96829068	G	A	exonic	CFAP54	.	nonsynonymous SNV	CFAP54:NM_001306084:exon66:c.G9151A:p.E3051K	.	.	440	1081	1	0	0	1	0.000462321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	.	.	.	.	.	.	0.800	D	.	.	.	.	-0.544	T	0.229	T	0.15	1.414	10.67	4.29	1.337	2.949	10.030	0.023	0.0414180961159	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs367773098	1.762e-05	1.916e-05	2.322e-05	1.188e-05	0.0005	1.192e-05	1.002e-05	0.0003	0.0003	0.0005	0	0	0	0	0.0002	0	0.0001	0	7.894e-05	7.883e-05	9.004e-05	6.732e-05	0.0003	4.501e-05	3.516e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	0	0	0	0.726	0.03857	T	0.24	0.24406	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.57	0.17210	N	0.123	0.11483	-0.5438	0.67020	T	0.229	0.59497	T	5	0.055776417	0.06150	T	0.041418	0.59915	D	0.023	0.04649	0.261	0.20473	0.0716867268079	0.06686	0.08250627484070838	0.08185	0.0386348827147	0.04107	.	.	.	0.009783	0.08886	T	-0.399774	0.02323	T	-0.475765	0.24897	T	0.0568057328832343	0.06656	T	0.60024	0.22396	T	0.08029848	0.18392	0.09071043	0.21288	0.08029848	0.18391	0.09071043	0.21287	-2.993	0.10106	T	.	.	0.078	0.06896	B	.	.	1.937284	0.24609	16.46	0.89915695497318426	0.19215	0.25371	0.22678	N	AEFI	0.083301	0.16875	N	-0.225416012192442	0.32093	1.806323	-0.309871696417931	0.27779	1.543877	0.0212619137037029	0.13334	0.651	0.46895	0	0.588015	0.36545	0	0.573888	0.23631	0	0.683762	0.67416	0	.	.	5.18	4.29	0.50359	3.342000	0.51877	5.764000	0.49701	0.676000	0.76740	0.541000	0.27275	1.000000	0.68203	0.002000	0.04165	0.094:0.0:0.906:0.0	10.030	0.41269	829	0.39537	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1194.98	33	chr12	96829068	.	G	A	1194.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.730;DP=795;ExcessHet=0.0000;FS=0.726;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=-1.091e+00;SOR=0.636	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr12	98516081	98516081	G	A	exonic	TMPO	.	nonsynonymous SNV	TMPO:NM_001032283:exon1:c.G214A:p.E72K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.999	D	0.837	P	0.000	D	0.998	D	1.975	M	1.63	T	-0.097	T	0.447	T	0.582	3.165	16.59	4.51	2.217	4.216	17.207	0.147	0.938901082115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.381e-06	2.736e-06	1.373e-06	1.389e-06	1.804e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.804e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.53172	D	0.168	0.39799	T	0.984	0.77913	D	0.546	0.59984	P	0.000200	0.48115	D	0.182670	0.997646	0.44063	D	2.34	0.67151	M	0.27	0.72994	T	-1.78	0.45222	N	0.375	0.48227	-0.0969	0.80169	T	0.447	0.78252	T	10	0.544495	0.63906	D	0.938901	0.99565	D	0.147	0.38986	0.284	0.24121	0.724144010556	0.72170	0.18358928958345458	0.18277	0.409170170421	0.41733	0.94465482235	0.99612	D	0.037693	0.63310	T	0.0671522	0.60501	T	-0.141317	0.60004	T	0.986519932746887	0.77213	D	0.949105	0.80662	D	0.31393725	0.54124	0.37855816	0.62931	0.31393725	0.54124	0.37855816	0.62930	-5.913	0.51030	T	.	.	0.758	0.83831	P	.;.;.;.;.	.;.;.;.;.	4.857407	0.79449	27.1	0.99761611570148778	0.85091	0.82215	0.41477	D	AEFDBHCIJ	0.645428	0.62133	D	0.353841799328165	0.58943	4.069792	0.32431216480423	0.56972	3.861531	0.999999998410771	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.51	4.51	0.54589	3.410000	0.52417	11.026000	0.85008	0.588000	0.31329	1.000000	0.71638	1.000000	0.68203	0.052000	0.15357	0.0:0.0:1.0:0.0	17.207	0.86802	821	0.40814	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	670.98	34	chr12	98516081	.	G	A	670.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.423;DP=711;ExcessHet=0.0000;FS=2.659;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.98;ReadPosRankSum=2.15;SOR=0.340	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1219	20	0	1	0
chr12	98533078	98533078	G	A	exonic	TMPO	.	nonsynonymous SNV	TMPO:NM_003276:exon4:c.G821A:p.R274K,	.	.	0	1521	1	0	0	1	0.000328623	.	.	53840	not_specified|TMPO-related_disorder|Loeys-Dietz_syndrome_2|not_provided	MedGen:CN169374|.|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168,Orphanet:558|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.97	T	0.002	B	0.004	B	0.152	N	1.000	D	0.345	N	1.68	T	-1.049	T	0.028	T	0.059	-1.890	0.008	2.57	0.766	0.779	8.300	0.024	0.00548624604785	0.0029	0.00179712	0.0023	0.0014	0.0029	0	0.0011	0.0030	0.0022	0.0017	0.002542	393	154602	rs139700737	0.0045	0.0045	0.0046	0.0043	0.0052	0.0044	0.0043	0.0050	0.0050	0.0005	0.0033	0.0050	2.519e-05	0.0015	0.0003	0.0052	0.0047	0.0013	0.0028	0.0028	0.0032	0.0025	0.0039	0.0026	0.0025	0.0035	0.0033	0.0011	0.0473	0.0026	0.0043	0.0002	0.0004	0	0.0039	0.0033	0.0021	0.764	0.03441	T	0.88	0.03223	T	0.002	0.09854	B	0.004	0.10090	B	0.152315	0.17927	N	0.531595	1	0.81001	D	0.345	0.11182	N	1.68	0.27184	T	0.3	0.04091	N	0.063	0.03502	-1.0490	0.14677	T	0.028	0.11838	T	10	0.0032045841	0.00054	T	0.005486	0.14106	T	0.024	0.04979	.	.	0.112648838833	0.10856	0.10324057779625055	0.10254	0.0686091453099	0.07686	0.25190705061	0.03971	T	0.073548	0.34725	T	-0.628031	0.00098	T	-0.672704	0.07436	T	0.000670149374572627	0.00006	T	0.354465	0.08000	T	0.08222497	0.18932	0.07160606	0.15352	0.08222497	0.18931	0.07160606	0.15352	-2.729	0.07549	T	0.12962181454388585	0.13557	0.071	0.04041	B	.	.	1.384487	0.17965	13.47	0.57532277172836876	0.05790	0.53441	0.29372	D	AEFGBHCI	0.070750	0.14057	N	-0.681313829775218	0.16555	0.8444639	-0.52235465254689	0.21546	1.16613	0.999990547342771	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.741806	0.99463	0	.	.	5.46	2.57	0.29928	0.793000	0.26604	1.886000	0.29485	0.676000	0.76740	0.994000	0.38300	1.000000	0.68203	0.930000	0.46718	0.2661:0.0:0.7339:0.0	8.300	0.31166	822	0.40702	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	1145.98	36	chr12	98533078	.	G	A	1145.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=1201;ExcessHet=0.0000;FS=0.710;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.51;ReadPosRankSum=-8.780e-01;SOR=0.617	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr12	98533500	98533500	T	A	exonic	TMPO	.	nonsynonymous SNV	TMPO:NM_003276:exon4:c.T1243A:p.S415T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.005	B	0.005	B	0.725	N	1.000	N	0.695	N	1.36	T	-1.020	T	0.053	T	0.208	1.956	12.50	3.13	1.073	1.320	4.871	0.021	0.00546054453013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.287	0.21210	T	0.005	0.12996	B	0.005	0.11217	B	0.724986	0.09903	N	0.873437	1	0.18878	N	1.04	0.26193	L	1.36	0.34452	T	-0.66	0.19085	N	0.123	0.11483	-1.0203	0.23616	T	0.053	0.22346	T	10	0.048615307	0.04337	T	0.005461	0.14045	T	0.021	0.04004	0.115	0.02372	0.115124310173	0.11017	0.1212878076521397	0.12055	0.0786725316196	0.08852	0.413737684488	0.26973	T	0.179619	0.53068	T	-0.17265	0.24834	T	-0.485776	0.23835	T	0.250317791962924	0.22887	T	0.417258	0.10990	T	0.19753411	0.41622	0.16730449	0.38605	0.19753411	0.41622	0.16730449	0.38604	-4.005	0.23878	T	0.5874894566696379	0.65429	0.094	0.14477	B	.	.	1.556603	0.19942	14.51	0.98217725632105624	0.39272	0.13071	0.17646	N	AEFBCI	0.065992	0.12902	N	-0.723651613717197	0.15358	0.7732975	-0.656816237698051	0.18045	0.9622372	0.995985134095809	0.34450	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.65	3.13	0.35090	1.302000	0.33063	2.258000	0.31739	0.665000	0.62972	0.177000	0.24026	0.989000	0.31174	0.975000	0.56047	0.1623:0.087:0.0:0.7507	4.871	0.12990	823	0.40596	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	5875.98	36	chr12	98533500	.	T	A	5875.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=1402;ExcessHet=0.0000;FS=2.429;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.70;ReadPosRankSum=0.464;SOR=0.870	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr12	98613721	98613721	C	T	exonic	IKBIP	.	nonsynonymous SNV	IKBIP:NM_201612:exon3:c.G917A:p.G306E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	1.0	D	1.0	D	.	.	1.000	D	1.845	L	0.47	T	-0.216	T	0.496	T	0.973	4.148	21.4	5.52	2.593	6.098	19.441	0.498	0.127796251818	7.7e-05	.	8.249e-05	9.654e-05	0	0	0	0.0001	0	6.069e-05	9.06e-05	14	154602	rs370097489	9.861e-05	9.987e-05	8.448e-05	0.0001	0.0021	8.52e-05	7.99e-05	0.0012	0.0009	0.0004	4.497e-05	0.0002	0	0	0.0021	8.368e-05	0.0001	0.0001	9.853e-05	9.844e-05	0.0001	9.405e-05	0.0001	6.005e-05	4.878e-05	6.272e-05	4.292e-05	0.0001	0	0	0	0	0	0.0034	0.0001	0	0	0.054	0.38633	T	0.152	0.32249	T	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.998437	0.81001	D	2.175	0.60977	M	0.47	0.56114	T	-2.31	0.51319	N	0.967	0.97750	-0.2156	0.77268	T	0.496	0.80888	T	9	0.8316542	0.82327	D	0.127796	0.80965	D	0.498	0.78226	.	.	0.675944014053	0.67319	.	.	.	.	.	.	.	0.256926	0.62789	T	0.125785	0.66949	D	0.179573	0.81972	D	0.170278623700142	0.18599	T	0.79912	0.44420	T	0.3035795	0.53224	0.39920497	0.64490	0.3035795	0.53224	0.39920497	0.64490	-2.893	0.09074	T	.	.	0.594	0.68615	P	.	.	4.577702	0.72282	25.8	0.99757544144789456	0.84772	0.98822	0.87309	D	AEFBI	0.776244	0.70942	D	0.710815502967549	0.80343	7.273013	0.711573430245223	0.83256	7.974704	0.999999998089395	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.52	5.52	0.82153	6.511000	0.73644	7.571000	0.60712	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	19.441	0.94812	901	0.24189	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1719.98	33	chr12	98613721	.	C	T	1719.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.699;DP=1204;ExcessHet=0.0000;FS=3.711;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=1.14;SOR=0.990	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	20	0	1	0
chr12	100037647	100037647	T	C	exonic	UHRF1BP1L	.	nonsynonymous SNV	UHRF1BP1L:NM_015054:exon21:c.A4384G:p.T1462A,	.	.	.	.	.	.	.	.	.	.	.	3291112	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.0	B	0.244	N	0.972	D	0.345	N	2.99	T	-0.994	T	0.014	T	0.085	-0.038	3.821	0.076	0.087	0.438	5.889	0.056	0.00435868917151	0.0002	.	0.0003	9.647e-05	0	0	0	0.0004	0.0011	0.0005	0.0002781	43	154602	rs144439125	0.0002	0.0002	0.0002	0.0002	0.0030	0.0002	0.0002	0.0019	0.0015	0	0.0002	0.0008	0	0	0.0030	0.0002	0.0004	0.0005	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	4.824e-05	0	0.0001	0.0020	0	0	0	0.0002	0.0005	0.0002	0.365	0.14743	T	0.328	0.19073	T	0.0	0.02946	B	0.0	0.01387	B	0.243968	0.15651	N	0.644376	0.999993	0.08975	N	1.355	0.33814	L	2.99	0.09262	T	-0.97	0.28906	N	0.041	0.03956	-0.9938	0.31617	T	0.014	0.05753	T	10	0.015911102	0.00334	T	0.004359	0.10624	T	0.056	0.15993	.	.	0.043077524339	0.03247	0.11958438577316632	0.11885	0.114344148871	0.12892	0.367884039879	0.20527	T	0.001663	0.15779	T	-0.56788	0.00228	T	-0.699463	0.05855	T	0.00941299675094403	0.00121	T	0.661834	0.27067	T	0.067395814	0.14591	0.043780204	0.05526	0.067395814	0.14591	0.043780204	0.05525	-4.128	0.25701	T	.	.	0.069	0.04806	B	.;.	.;.	1.353259	0.17613	13.27	0.74831218863303828	0.10843	0.39113	0.26140	N	AEFBI	0.084812	0.17191	N	-0.62329975053083	0.18246	0.9457326	-0.50879685959633	0.21913	1.187738	0.00291953011120681	0.09795	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.53	0.076	0.13714	0.671000	0.24853	-0.388000	0.09495	0.665000	0.62972	0.969000	0.34210	0.347000	0.24452	0.902000	0.43815	0.0:0.2394:0.2597:0.5009	5.889	0.18143	889	0.27310	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1839.98	35	chr12	100037647	.	T	C	1839.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=818;ExcessHet=0.0000;FS=0.675;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.60;ReadPosRankSum=-1.020e-01;SOR=0.582	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1230	20	0	1	0
chr12	100380943	100380943	C	G	exonic	SLC17A8	.	nonsynonymous SNV	SLC17A8:NM_001145288:exon2:c.C344G:p.P115R	Deafness, autosomal dominant 25, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.495	P	0.347	B	0.000	D	1.000	D	1.04	L	-0.14	T	-0.737	T	0.267	T	0.783	1.465	10.84	5.27	2.466	3.234	18.890	0.267	0.0269775364795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533	0.07140	T	0.526	0.10245	T	0.392	0.37059	B	0.347	0.42698	B	0.000002	0.62929	D	0.059655	0.999991	0.58761	D	0.46	0.12951	N	-0.14	0.71068	T	-1.93	0.47344	N	0.336	0.43995	-0.7369	0.58611	T	0.267	0.63887	T	10	0.21612564	0.38185	T	0.026978	0.49839	D	0.267	0.58126	0.632	0.76810	0.401185642668	0.39728	0.8914091549782028	0.89110	0.196433815475	0.22005	0.649490356445	0.59913	T	0.253018	0.62348	T	0.10756	0.65098	D	-0.0832745	0.64664	T	0.696889281272888	0.40571	D	0.761624	0.38671	T	0.160294	0.35961	0.1768554	0.40248	0.160294	0.35961	0.1768554	0.40247	-9.256	0.69330	D	0.09742581121508652	0.06852	0.094	0.27161	B	.;.	.;.	2.439276	0.31391	18.73	0.88251510660999688	0.17831	0.97744	0.76819	D	AEFDBI	0.702702	0.65898	D	0.0628783630475106	0.44737	2.742334	0.200645080211378	0.49883	3.186351	0.999799667293363	0.43153	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.27	5.27	0.73797	3.300000	0.51541	3.828000	0.39982	0.549000	0.26987	0.995000	0.38783	0.999000	0.35428	0.850000	0.40195	0.0:1.0:0.0:0.0	18.890	0.92363	636	0.64483	Major facilitator superfamily domain|Major facilitator superfamily domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	816.98	33	chr12	100380943	.	C	G	816.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=754;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.59;ReadPosRankSum=0.684;SOR=0.843	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1130	20	0	1	0
chr12	101372939	101372939	T	G	exonic	UTP20	.	nonsynonymous SNV	UTP20:NM_014503:exon52:c.T6854G:p.L2285W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.99	D	0.000	D	1.000	D	2.595	M	-0.65	T	0.242	D	0.565	D	0.923	4.687	25.9	5.77	2.196	6.581	16.084	0.741	0.401704943399	.	.	8.256e-05	9.681e-05	0	0	0	3.003e-05	0	0.0004	6.47e-05	10	154602	rs762377711	3.489e-05	3.489e-05	1.634e-05	5.363e-05	0.0005	2.697e-05	2.438e-05	0.0004	0.0003	0	0	0	0	0	0	2.698e-06	9.934e-05	0.0005	1.313e-05	1.312e-05	0	2.685e-05	0.0004	2.18e-06	8.2e-07	7.293e-05	3.03e-05	0	0	0	0	0	0	0	0	0	0.0004	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.99	0.78936	D	0.000018	0.62929	D	0.072450	0.99999	0.58761	D	3.3	0.90472	M	-0.65	0.72237	T	-4.6	0.78976	D	0.85	0.84609	0.242	0.86620	D	0.565	0.84211	D	10	0.80886	0.80193	D	0.401705	0.93411	D	0.741	0.91026	0.489	0.57415	0.905639851255	0.90470	0.7992651528131759	0.79879	0.70520438202	0.61373	0.691736698151	0.65955	T	0.299161	0.67170	T	0.151022	0.69364	D	0.301122	0.88251	D	0.916581094264984	0.57407	D	0.825917	0.48908	T	0.64592785	0.75146	0.79429436	0.87913	0.64592785	0.75148	0.79429436	0.87914	-12.891	0.88908	D	.	.	0.625	0.69885	P	.	.	4.855298	0.79394	27.1	0.96534046551379116	0.30162	0.98778	0.86731	D	AEFBI	0.747937	0.68984	D	0.825381203909788	0.87664	9.297513	0.795544867708998	0.89482	9.992968	0.999866055757637	0.44398	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.77	5.77	0.91077	6.572000	0.73895	6.067000	0.53222	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.084	0.80832	850	0.35610	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2077.98	34	chr12	101372939	.	T	G	2077.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.509;DP=829;ExcessHet=0.0000;FS=4.377;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.23;ReadPosRankSum=-1.804e+00;SOR=1.054	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1166	20	0	1	0
chr12	101629472	101629472	G	A	exonic	MYBPC1	.	nonsynonymous SNV	MYBPC1:NM_001254722:exon2:c.G64A:p.A22T	Arthrogryposis, distal, type 1B;Lethal congenital contracture syndrome 4, Autosomal recessive	.	0	225	1	0	0	1	0.00221729	.	.	2410424	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.56	T	0.002	B	0.005	B	0.014	N	1.000	N	0	N	0.39	T	-1.043	T	0.074	T	0.223	0.585	7.159	5.28	1.627	5.463	10.567	0.071	0.0112562474689	.	.	4.125e-05	0	0	0	0.0003	4.503e-05	0	0	3.23e-05	5	154602	rs759342445	2.6e-05	2.599e-05	3.131e-05	2.063e-05	0.0002	1.932e-05	1.692e-05	1.83e-05	1.582e-05	0	4.472e-05	0	0	3.746e-05	0.0002	2.608e-05	6.623e-05	0	2.628e-05	2.625e-05	1.285e-05	4.032e-05	2.94e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0	0	9.445e-05	0.0034	2.94e-05	0	0	0.563	0.06757	T	0.567	0.09113	T	0.0	0.02946	B	0.004	0.11217	B	0.013560	0.28806	N	0.240674	1	0.81001	D	0	0.06538	N	0.35	0.58176	T	-0.29	0.14588	N	0.168	0.21969	-1.0432	0.16354	T	0.074	0.29992	T	10	0.083165586	0.13806	T	0.011256	0.28702	T	0.071	0.20720	0.321	0.30064	0.236619781664	0.23270	0.12524746204654702	0.12450	0.0435913940662	0.04699	0.309196352959	0.11786	T	0.010519	0.30928	T	-0.232761	0.16284	T	-0.386218	0.34995	T	0.138304561376572	0.16127	T	0.909909	0.68816	D	0.11576848	0.27314	0.12713727	0.30609	0.11576848	0.27314	0.12713727	0.30609	-3.548	0.21014	T	0.09242464641982052	0.05972	0.102	0.17953	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.797325	0.36791	20.3	0.41746089177584172	0.03032	0.97447	0.74808	D	AEFBI	0.434200	0.49535	N	-0.37451012865043	0.26381	1.43931	-0.172685834628531	0.32546	1.852667	0.994556194300097	0.33691	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	6.16	5.28	0.74118	5.801000	0.68775	6.781000	0.56583	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.287000	0.24188	0.1443:0.0:0.8557:0.0	10.567	0.44367	755	0.51144	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	589.98	33	chr12	101629472	.	G	A	589.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.093;DP=765;ExcessHet=0.0000;FS=0.967;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.08;ReadPosRankSum=1.11;SOR=0.487	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1204	20	0	1	0
chr12	101723803	101723803	T	C	exonic	CHPT1	.	nonsynonymous SNV	CHPT1:NM_020244:exon7:c.T1021C:p.F341L,	.	.	439	1078	5	0	0	5	0.00231374	.	.	713279	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.44	T	1.0	D	0.999	D	0.000	D	1.000	D	2.24	M	0.98	T	-0.958	T	0.041	T	0.852	4.132	21.3	5.82	2.232	5.957	16.197	0.449	.	.	0.0121805	0.0064	9.872e-05	0.0045	0.0595	0.0083	0.0019	0.0056	0.0020	0.0057502	889	154602	rs79716906	0.0026	0.0026	0.0027	0.0025	0.0553	0.0025	0.0025	0.0534	0.0526	0.0001	0.0048	0	0.0553	0.0084	0.0008	0.0004	0.0033	0.0023	0.0032	0.0032	0.0027	0.0037	0.0528	0.0029	0.0029	0.0477	0.0457	0.0003	0	0.0023	0	0.0528	0.0085	0.0034	0.0008	0.0028	0.0027	0.047	0.40319	D	0.066	0.44501	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.36	0.67893	M	0.97	0.42502	T	-5.45	0.85468	D	0.443	0.48872	-0.9577	0.39608	T	0.041	0.17742	T	10	0.008994997	0.00203	T	.	.	.	0.449	0.75004	0.527	0.63263	0.743900995116	0.74159	0.5961259794062993	0.59542	0.37876829736	0.39283	0.673043847084	0.63272	T	0.128441	0.45610	T	-0.173017	0.24780	T	0.0242584	0.71905	D	0.0853268804829277	0.10653	T	0.926107	0.72788	D	0.5238906	0.68482	0.5149301	0.71972	0.5238906	0.68483	0.5149301	0.71972	-7.375	0.56728	T	.	.	0.919	0.84099	P	.;.	.;.	4.566263	0.72000	25.8	0.9989161342196119	0.96589	0.97988	0.78670	D	AEBI	0.898233	0.84129	D	0.581336365593332	0.72009	5.738941	0.546072063663764	0.71123	5.607339	0.999998641349547	0.74766	0.732398	0.92422	0	0.659464	0.62310	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.82	5.82	0.92740	5.935000	0.69862	6.165000	0.54401	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:0.0:1.0	16.197	0.81846	463	0.78548	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	828.98	34	chr12	101723803	.	T	C	828.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.146;DP=751;ExcessHet=0.0000;FS=1.009;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.16;ReadPosRankSum=-1.970e-01;SOR=0.930	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1089	20	0	1	0
chr12	101737877	101737877	T	C	exonic	SYCP3	.	nonsynonymous SNV	SYCP3:NM_001177948:exon2:c.A59G:p.Q20R	Pregnancy loss, recurrent, 4, Autosomal dominant;Spermatogenic failure 4, Autosomal dominant	.	0	1502	20	0	0	20	0.00661376	.	.	869054	Spermatogenic_failure_4	MONDO:MONDO:0010052,MedGen:C0232981,OMIM:270960	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.2	T	0.002	B	0.002	B	0.346	N	0.999	N	2.14	M	.	.	-0.971	T	0.146	T	0.382	0.359	5.946	5.01	1.891	2.231	11.421	0.085	0.00584070470239	0.0004	0.000599042	0.0008	0.0003	0	0	0	0.0005	0	0.0036	0.000718	111	154602	rs143228358	0.0006	0.0006	0.0005	0.0008	0.0042	0.0006	0.0006	0.0038	0.0037	5.974e-05	0.0003	0.0015	0	1.872e-05	0.0029	0.0004	0.0008	0.0042	0.0003	0.0003	0.0002	0.0005	0.0041	0.0003	0.0002	0.0027	0.0023	2.405e-05	0	6.535e-05	0.0003	0	0	0.0034	0.0004	0.0005	0.0041	0.824	0.02928	T	0.43	0.13713	T	0.002	0.09854	B	0.002	0.06944	B	0.345971	0.13890	N	0.694656	0.999111	0.21609	N	1.95	0.52479	M	.	.	.	-0.69	0.19720	N	0.361	0.41853	-0.9708	0.37030	T	0.146	0.46967	T	9	0.005790025	0.00129	T	0.005841	0.15191	T	0.085	0.24743	.	.	0.132336055621	0.12781	0.09953994278906358	0.09884	0.281062327463	0.30577	0.263465881348	0.05310	T	0.11399	0.43146	T	-0.394535	0.02514	T	-0.340654	0.40269	T	0.0133992460828032	0.00243	T	0.390461	0.09684	T	0.04984325	0.08912	0.059598148	0.11213	0.053708326	0.10204	0.057938606	0.10621	-3.246	0.13051	T	.	.	0.074	0.04975	B	.;.;.	.;.;.	1.195877	0.15877	12.16	0.91376685326588247	0.20641	0.68804	0.33941	D	AEFDBI	0.080722	0.16326	N	-0.215903476048163	0.32481	1.832244	-0.13961489558119	0.33809	1.938006	0.0711789056584624	0.15557	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.528226	0.09195	0	.	.	5.01	5.01	0.66477	2.308000	0.43350	0.423000	0.18241	-0.157000	0.11712	0.986000	0.36153	0.251000	0.23919	0.006000	0.07323	0.0:0.0:0.151:0.849	11.421	0.49228	465	0.78421	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1108.98	43	chr12	101737877	.	T	C	1108.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.710e-01;DP=837;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.81;ReadPosRankSum=-5.870e-01;SOR=0.748	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr12	101766270	101766270	A	G	exonic	GNPTAB	.	nonsynonymous SNV	GNPTAB:NM_024312:exon12:c.T1433C:p.I478T,	Mucolipidosis II alpha/beta, Autosomal recessive;Mucolipidosis III alpha/beta, Autosomal recessive	.	0	1501	21	0	0	21	0.00694674	.	.	713282	Mucolipidosis_type_II|Pseudo-Hurler_polydystrophy|not_provided	MONDO:MONDO:0009650,MedGen:C2673377,OMIM:252500,Orphanet:576|MONDO:MONDO:0018931,MedGen:C0033788,OMIM:252600,Orphanet:423461,Orphanet:577|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.77	T	0.003	B	0.005	B	0.925	N	1.000	N	0.345	N	-3.85	D	-0.309	T	0.584	D	0.147	0.156	4.841	-4.69	-0.397	-0.559	7.658	0.266	0.0544605855198	0.0004	0.000399361	0.0007	0.0003	0	0	0	0.0005	0	0.0025	0.0006015	93	154602	rs149718548	0.0006	0.0006	0.0005	0.0006	0.0029	0.0005	0.0005	0.0026	0.0025	8.963e-05	0.0003	0.0015	0	1.872e-05	0.0029	0.0004	0.0007	0.0029	0.0003	0.0003	0.0002	0.0004	0.0035	0.0003	0.0002	0.0023	0.0019	4.813e-05	0	6.539e-05	0.0003	0	0	0.0034	0.0004	0.0005	0.0035	0.182	0.21801	T	0.489	0.11586	T	0.003	0.11197	B	0.005	0.11217	B	0.925238	0.08459	N	0.967326	1	0.08975	N	1.1	0.28011	L	-3.85	0.95859	D	-0.12	0.08809	N	0.169	0.17966	-0.3094	0.74722	T	0.584	0.85079	D	10	0.0063535273	0.00143	T	0.054461	0.65866	D	0.266	0.57999	.	.	0.365317461125	0.36143	0.5691773594388446	0.56845	0.28373127432	0.30810	0.301884233952	0.10682	T	0.075602	0.35216	T	-0.319188	0.06965	T	-0.235883	0.51200	T	0.00434952491633391	0.00046	T	0.874313	0.58483	D	0.024662929	0.01321	0.027240569	0.00862	0.024662929	0.01321	0.027240569	0.00862	-4.152	0.26053	T	0.09487341674740654	0.06396	0.080	0.07841	B	.	.	0.295647	0.06715	3.225	0.58841609734208611	0.06085	0.04924	0.10679	N	AEFBI	0.045895	0.07560	N	-1.29789030836205	0.03701	0.1658055	-1.3277398934604	0.04075	0.1914703	0.999975229042931	0.50053	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.44	-4.69	0.03061	-0.392000	0.07375	-0.108000	0.11862	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.572000	0.30699	0.2925:0.4172:0.2902:0.0	7.658	0.27550	471	0.78036	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1981.98	33	chr12	101766270	.	A	G	1981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.900e-02;DP=847;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=0.043;SOR=0.648	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1375	20	0	1	0
chr12	102182562	102182562	G	A	exonic	PARPBP	.	nonsynonymous SNV	PARPBP:NM_001382726:exon6:c.G601A:p.V201M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.987	D	0.906	P	0.010	N	1.000	N	1.59	L	0.94	T	-1.049	T	0.070	T	0.434	1.853	12.16	4.31	2.613	1.946	10.645	0.137	.	7.7e-05	0.00678914	0.0035	0.0002	9.083e-05	0.0453	0	7.939e-05	0	0.0009	0.0030595	473	154602	rs12227879	0.0011	0.0011	0.0011	0.0011	0.0349	0.0011	0.0010	0.0334	0.0327	5.998e-05	4.493e-05	0	0.0349	0	0.0002	1.622e-05	0.0019	0.0011	0.0017	0.0017	0.0014	0.0020	0.0447	0.0015	0.0014	0.0400	0.0382	7.253e-05	0	0.0004	0	0.0447	0	0	0	0.0009	0.0023	0.07	0.54683	T	0.09	0.50226	T	0.987	0.61912	D	0.906	0.64351	P	0.009791	0.30200	N	0.379952	1	0.81001	D	2.52	0.73523	M	0.91	0.44856	T	-0.22	0.23808	N	0.311	0.35088	-1.0494	0.14565	T	0.070	0.28445	T	10	0.0035672188	0.00064	T	.	.	.	0.137	0.36984	.	.	0.597511309715	0.59430	0.23505839317972443	0.23420	.	.	0.476483225822	0.35574	T	0.025042	0.18806	T	-0.411932	0.01930	T	-0.330181	0.41448	T	0.0437215120191126	0.04370	T	0.853215	0.54193	D	0.044735014	0.07203	0.046624493	0.06537	0.044735014	0.07202	0.046624493	0.06537	-4.062	0.25643	T	.	.	0.099	0.37596	B	.;.;.;.	.;.;.;.	2.527913	0.32681	19.11	0.9958849739286002	0.73454	0.76262	0.37389	D	AEFBI	0.160833	0.28681	N	0.352514885882445	0.58870	4.062259	0.304956629817994	0.55829	3.745862	0.999655378897223	0.41424	0.730579	0.87903	0	0.633656	0.55848	0	0.653264	0.51672	0	0.648885	0.59868	0	.	.	5.26	4.31	0.50718	2.361000	0.43814	3.744000	0.39660	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.255000	0.23391	0.0:0.0:0.8089:0.1911	10.645	0.44807	549	0.72275	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	355.98	46	chr12	102182562	.	G	A	355.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.084;DP=838;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.12;ReadPosRankSum=-1.178e+00;SOR=0.706	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,108,1620	20	0	1	0
chr12	102912794	102912794	A	C	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon2:c.T165G:p.F55L	Phenylketonuria, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	98641	Phenylketonuria|Hyperphenylalaninemia|not_provided|See_cases	MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:716|Human_Phenotype_Ontology:HP:0004923,MedGen:C0751435|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.13	T	0.989	D	0.91	D	0.000	D	1.000	D	1.985	M	-5.64	D	1.054	D	0.962	D	0.831	3.263	16.95	4.33	0.911	3.047	8.93	0.853	0.612631081136	.	.	9.063e-05	0	0.0003	0	0	0.0001	0	0	8.41e-05	13	154602	rs199475598	8.535e-05	8.688e-05	8.911e-05	8.156e-05	0.0008	7.253e-05	6.838e-05	0.0006	0.0005	9.01e-05	0.0008	3.837e-05	0	0	0.0002	6.976e-05	9.981e-05	2.323e-05	0.0002	0.0002	6.422e-05	0.0003	0.0016	0.0001	0.0001	0.0011	0.0010	4.824e-05	0	0.0016	0	0	0	0	4.409e-05	0	0	0.096	0.91255	T	0.12	0.92824	T	0.89	0.48942	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.05	0.56469	M	-5.64	0.99249	D	-4.98	0.89029	D	0.863	0.89800	1.054	0.98198	D	0.962	0.98793	D	10	0.8023075	0.79616	D	0.612631	0.96623	D	0.853	0.95470	0.86	0.95774	0.984945034095	0.98478	0.8590593700418251	0.85868	0.224652461298	0.24998	0.615614533424	0.55109	T	0.965695	0.99588	D	0.134391	0.67786	D	0.356888	0.90583	D	0.675697565078735	0.39593	D	0.962254	0.85785	D	0.8440735	0.86901	0.66627944	0.80431	0.8436373	0.86871	0.66973543	0.80625	-8.241	0.62700	D	0.17104940695263118	0.21539	0.917	0.89526	P	.;.;.;.	.;.;.;.	3.647873	0.51758	23.1	0.99440077188276055	0.64720	0.90169	0.51136	D	AEFBI	0.777258	0.71012	D	0.383867446518945	0.60548	4.244872	0.367309881784486	0.59556	4.134594	0.999991428284611	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.46	4.33	0.51083	3.369000	0.52092	4.466000	0.43477	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.9144:0.0:0.0856:0.0	8.93	0.34824	768	0.49510	ACT domain|ACT domain;ACT domain|ACT domain;ACT domain|ACT domain;ACT domain|ACT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1290.98	34	chr12	102912794	.	A	C	1290.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.237e+00;DP=850;ExcessHet=0.0000;FS=4.347;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.41;ReadPosRankSum=0.213;SOR=1.101	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr12	102958405	102958405	-	GCA	exonic	ASCL1	.	nonframeshift insertion	ASCL1:NM_004316:exon1:c.161_162insGCA:p.Q62_A63insQ,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/0:27,0,0,0,0:27:81:0,81,912,81,912,912,81,912,912,912,81,912,912,912,912	6	1	11	0
chr12	102958405	102958405	-	GCAGCA	exonic	ASCL1	.	nonframeshift insertion	ASCL1:NM_004316:exon1:c.161_162insGCAGCA:p.Q62_A63insQQ,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/0:27,0,0,0,0:27:81:0,81,912,81,912,912,81,912,912,912,81,912,912,912,912	6	1	11	0
chr12	102958403	102958405	GCA	-	exonic	ASCL1	.	nonframeshift deletion	ASCL1:NM_004316:exon1:c.159_161del:p.Q62del,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/0:27,0,0,0,0:27:81:0,81,912,81,912,912,81,912,912,912,81,912,912,912,912	6	1	11	0
chr12	102958394	102958405	GCAGCAGCAGCA	-	exonic	ASCL1	.	nonframeshift deletion	ASCL1:NM_004316:exon1:c.150_161del:p.Q59_Q62del,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	254390	not_specified|Phenylketonuria	MedGen:CN169374|MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:716	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1416400102	0.0008	0.0008	0.0007	0.0008	0.0025	0.0007	0.0007	0.0021	0.0019	0.0025	0.0008	0.0058	0.0008	0	0.0012	0.0005	0.0013	0.0019	0.0015	0.0015	0.0013	0.0016	0.0029	0.0013	0.0013	0.0025	0.0023	0.0029	0	0.0012	0.0069	0.0004	0	0	0.0007	0.0014	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/0:27,0,0,0,0:27:81:0,81,912,81,912,912,81,912,912,912,81,912,912,912,912	6	1	11	0
chr12	103638039	103638039	A	G	exonic	STAB2	.	nonsynonymous SNV	STAB2:NM_017564:exon8:c.A733G:p.I245V,	.	.	.	.	.	.	.	.	.	.	.	3485226	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.31	T	0.001	B	0.007	B	0.024	N	1.000	N	-0.345	N	3.19	T	-0.987	T	0.008	T	0.05	-1.812	0.009	-4.5	-1.478	-0.193	8.295	0.025	0.00154783517101	.	.	0.0002	0	0.0002	0	0	1.5e-05	0.0033	0.0009	0.0001488	23	154602	rs529434792	7.6e-05	7.593e-05	6.947e-05	8.26e-05	0.0005	6.429e-05	6.01e-05	0.0004	0.0003	0	0	0	0	0	0.0002	5.221e-05	0.0002	0.0005	4.597e-05	4.593e-05	1.285e-05	8.056e-05	0.0006	2.108e-05	1.526e-05	0.0002	9e-05	0	0	0	0	0	0	0	5.882e-05	0	0.0006	0.456	0.08839	T	1.0	0.01155	T	0.001	0.07471	B	0.007	0.12992	B	0.023673	0.26399	N	0.376000	1	0.08975	N	-1.25	0.00764	N	3.19	0.07353	T	0.57	0.02638	N	0.19	0.20793	-0.9868	0.33396	T	0.008	0.02884	T	10	0.038753748	0.02316	T	0.001548	0.02445	T	0.025	0.05312	0.512	0.61000	0.0666544352282	0.05500	0.1861233389481513	0.18530	0.0664678907798	0.07414	0.287515759468	0.08561	T	0.049556	0.28342	T	-0.657138	0.00065	T	-0.802215	0.01848	T	0.0473112531073463	0.05021	T	0.283372	0.04986	T	0.018519897	0.00373	0.037221048	0.03330	0.018519897	0.00373	0.037221048	0.03330	-3.025	0.10453	T	.	.	0.069	0.03162	B	.	.	-1.549053	0.00267	0.004	0.24768143707884835	0.01111	0.00533	0.02466	N	AEFGBI	0.036334	0.04825	N	-1.5064428633663	0.01807	0.07919745	-1.51543225379108	0.02225	0.1020146	4.74619566647728E-4	0.07095	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.38	-4.5	0.03247	-0.307000	0.08206	-3.607000	0.02661	-0.208000	0.08445	0.000000	0.06391	0.000000	0.08366	0.431000	0.27472	0.5898:0.1134:0.2967:0.0	8.295	0.31138	862	0.33134	EGF domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2173.98	33	chr12	103638039	.	A	G	2173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.863;DP=869;ExcessHet=0.0000;FS=2.810;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=0.919;SOR=0.956	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr12	103695770	103695770	G	A	exonic	STAB2	.	nonsynonymous SNV	STAB2:NM_017564:exon33:c.G3508A:p.D1170N,	.	.	9	1510	3	0	0	3	0.000992392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.008	B	0.007	B	0.093	N	1.000	N	0.6	N	-2.71	D	-0.720	T	0.388	T	0.051	-0.119	3.419	3.41	0.496	0.685	9.319	0.175	0.034105958916	7.7e-05	0.000998403	0.0003	9.61e-05	0.0004	0	0	0.0002	0.0022	0.0007	0.0002393	37	154602	rs183850191	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0005	0.0005	2.987e-05	8.944e-05	0	0	0	0.0003	0.0001	0.0003	0.0007	9.852e-05	9.843e-05	0.0001	8.059e-05	0.0006	6.004e-05	4.878e-05	0.0002	0.0001	0	0	0.0004	0	0	0	0	7.349e-05	0.0005	0.0006	0.306	0.14207	T	0.611	0.07666	T	0.008	0.14655	B	0.007	0.12992	B	0.092540	0.20269	N	0.533252	1	0.08975	N	1.16	0.29674	L	-2.71	0.90566	D	-1.23	0.31170	N	0.101	0.08366	-0.7201	0.59458	T	0.388	0.74261	T	10	0.010106534	0.00226	T	0.034106	0.55449	D	0.175	0.44197	.	.	0.478905595755	0.47518	0.5479874004949805	0.54724	0.0852881431463	0.09642	0.302527725697	0.10778	T	0.189702	0.54401	T	-0.396661	0.02435	T	-0.471293	0.25376	T	0.0141532262982098	0.00277	T	0.567243	0.20104	T	0.029572709	0.02474	0.032913685	0.02102	0.029572709	0.02473	0.032913685	0.02102	-6.056	0.46745	T	.	.	0.071	0.03849	B	.	.	0.086689	0.04916	1.492	0.85679684019697078	0.16044	0.08603	0.14509	N	AEFBI	0.088812	0.18004	N	-1.16572799411304	0.05526	0.2521509	-1.09673798092191	0.07763	0.3789599	6.11603026450675E-5	0.04366	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.17	3.41	0.38145	0.437000	0.21261	1.050000	0.23629	-0.724000	0.03774	0.000000	0.06391	0.022000	0.20871	0.098000	0.18187	0.3297:0.0:0.6703:0.0	9.319	0.37117	876	0.30350	FAS1 domain|FAS1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2300.98	34	chr12	103695770	.	G	A	2300.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=844;ExcessHet=0.0000;FS=2.036;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.66;ReadPosRankSum=2.04;SOR=0.547	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1126	20	0	1	0
chr12	103706868	103706868	G	A	exonic	STAB2	.	nonsynonymous SNV	STAB2:NM_017564:exon38:c.G4073A:p.G1358D,	.	.	9	1511	2	0	0	2	0.000661376	.	.	796677	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	1.0	D	0.999	D	0.000	D	1.000	D	2.645	M	-2.24	D	0.606	D	0.808	D	0.981	3.296	17.07	5.69	2.696	6.050	19.810	0.627	0.0335612262938	.	.	4.12e-05	0	8.642e-05	0.0001	0	1.499e-05	0	0.0001	3.23e-05	5	154602	rs754580231	4.994e-05	4.994e-05	4.356e-05	5.638e-05	0.0085	4.059e-05	3.734e-05	0.0066	0.0059	0	8.944e-05	0	7.557e-05	0	0.0085	7.194e-06	9.934e-05	3.478e-05	3.941e-05	3.94e-05	2.568e-05	5.378e-05	0.0006	1.715e-05	1.129e-05	0.0002	8.35e-05	0	0	6.541e-05	0	0.0006	0	0	1.47e-05	0.0005	0	0.008	0.58626	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.38	0.68558	M	-2.24	0.87194	D	-6.16	0.90215	D	0.454	0.49146	0.606	0.91977	D	0.808	0.93518	D	10	0.50323737	0.61670	D	0.033561	0.55066	D	0.627	0.85615	0.502	0.59460	0.824548846282	0.82288	0.6896543974369571	0.68905	0.501483017549	0.48529	0.596603095531	0.52425	T	0.552416	0.84869	D	0.194971	0.73422	D	0.306715	0.88505	D	0.809951782226562	0.47044	D	0.820618	0.47957	T	0.6789609	0.76913	0.6053834	0.77061	0.6789609	0.76914	0.6053834	0.77062	-6.647	0.51410	T	.	.	0.166	0.36535	B	.	.	4.030454	0.59597	24.1	0.99765353235836052	0.85417	0.97414	0.74598	D	AEFDBI	0.858689	0.77625	D	0.541532219505311	0.69569	5.375464	0.415780940567358	0.62546	4.471991	0.999999892588597	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.69	5.69	0.88346	6.166000	0.71739	11.690000	0.94342	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.003000	0.05239	0.0:0.0:1.0:0.0	19.810	0.96539	865	0.32612	EGF-like domain|Laminin EGF domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	5308.08	39	chr12	103706868	.	G	A	5308.08	.	AC=2;AF=0.048;AN=42;DP=981;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.60;SOR=0.741	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	1	0	0
chr12	103725080	103725080	G	A	exonic	STAB2	.	nonsynonymous SNV	STAB2:NM_017564:exon45:c.G4789A:p.G1597S,	.	.	8	1512	2	0	0	2	0.000660939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	1.0	D	0.999	D	0.000	D	1.000	D	2.505	M	-2.89	D	0.832	D	0.871	D	0.688	3.740	18.99	5.38	2.515	6.322	17.894	0.646	0.148122671898	0.0002	.	0.0001	9.612e-05	8.64e-05	0	0	0.0002	0	0	0.0001423	22	154602	rs144900279	0.0002	0.0002	0.0001	0.0002	0.0031	0.0001	0.0001	0.0020	0.0017	8.966e-05	0.0001	0	0	0	0.0031	0.0002	0.0003	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	8.166e-05	6.722e-05	7.91e-05	5.995e-05	7.221e-05	0	0.0001	0	0	9.445e-05	0.0068	0.0001	0.0005	0	0.029	0.45756	D	0.015	0.61642	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999671	0.48205	D	3.44	0.92123	M	-2.89	0.91589	D	-3.81	0.71882	D	0.462	0.49874	0.832	0.94808	D	0.871	0.95704	D	10	0.64899546	0.69493	D	0.148123	0.83007	D	0.646	0.86586	.	.	0.867491070438	0.86620	0.8524035949781223	0.85202	0.442035396071	0.44180	0.530718505383	0.43136	T	0.540968	0.84282	D	0.0425163	0.57374	T	0.115444	0.77932	D	0.672265887260437	0.39439	D	0.881012	0.60027	D	0.42914793	0.62697	0.3759177	0.62725	0.42914793	0.62697	0.3759177	0.62725	-8.875	0.66888	D	.	.	0.198	0.41992	B	.	.	3.426504	0.47601	22.5	0.99878246437637841	0.95491	0.98580	0.84326	D	AEFBI	0.866726	0.78625	D	0.672674359218314	0.77842	6.753289	0.605841799262617	0.75364	6.297357	0.999909344462238	0.45458	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.38	5.38	0.77279	6.645000	0.74198	4.533000	0.43733	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.399000	0.26759	0.0:0.0:1.0:0.0	17.894	0.88797	902	0.24074	FAS1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	843.98	35	chr12	103725080	.	G	A	843.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=788;ExcessHet=0.0000;FS=0.827;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.05;ReadPosRankSum=-4.250e-01;SOR=0.833	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1135	20	0	1	0
chr12	103753331	103753331	A	G	exonic	STAB2	.	nonsynonymous SNV	STAB2:NM_017564:exon61:c.A6692G:p.N2231S,	.	.	8	1513	1	0	0	1	0.00033036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.002	B	0.009	B	0.012	N	1.000	N	0.525	N	1.6	T	-1.006	T	0.026	T	0.019	-0.393	2.155	-4.41	-0.544	-0.293	2.050	0.072	0.00616903083084	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs549427644	2.052e-06	2.052e-06	1.361e-06	2.75e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.805	0.03077	T	0.343	0.17857	T	0.002	0.09854	B	0.009	0.14300	B	0.012362	0.29198	N	0.335739	0.999972	0.18612	N	1.125	0.28843	L	1.6	0.28604	T	-0.89	0.24026	N	0.17	0.18103	-1.0062	0.28095	T	0.026	0.11131	T	10	0.045063317	0.03535	T	0.006169	0.16170	T	0.072	0.21020	0.571	0.69431	0.166414681773	0.16258	0.45708856149509147	0.45626	0.0684251949703	0.07659	0.33333325386	0.15437	T	0.058927	0.30978	T	-0.385455	0.02877	T	-0.791456	0.02125	T	0.0320203824432811	0.02310	T	0.725927	0.34027	T	0.029397242	0.02427	0.027801134	0.00961	0.029397242	0.02426	0.027801134	0.00961	-4.53	0.31279	T	.	.	0.065	0.02012	B	.	.	0.581495	0.09501	6.277	0.54331492955900507	0.05116	0.13850	0.18086	N	AEFDBI	0.323826	0.42590	N	-1.33815131350706	0.03249	0.1448239	-1.26439540478444	0.04921	0.2332956	0.267384147008628	0.18855	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.02	-4.41	0.03339	-0.447000	0.06901	0.148000	0.15257	-0.053000	0.16966	0.002000	0.15269	0.136000	0.23046	0.928000	0.46473	0.4449:0.2059:0.2489:0.1003	2.050	0.03351	904	0.23766	Link domain|Link domain|Link domain|Link domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3944.08	33	chr12	103753331	.	A	G	3944.08	.	AC=2;AF=0.048;AN=42;DP=985;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.81;SOR=0.759	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1197	20	1	0	0
chr12	103763598	103763598	-	C	exonic	STAB2	.	frameshift insertion	STAB2:NM_017564:exon68:c.7596dupC:p.F2534Lfs*5,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.362e-06	1.375e-06	1.16e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.995e-07	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2709.94	33	chr12	103763598	.	A	AC	2709.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.829e+00;DP=898;ExcessHet=0.0000;FS=5.144;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.41;ReadPosRankSum=-2.439e+00;SOR=0.765	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr12	103979899	103979899	C	A	exonic	TDG	.	nonsynonymous SNV	TDG:NM_003211:exon3:c.C235A:p.P79T,	.	.	436	1070	16	0	0	16	0.00742115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.923	P	0.56	P	0.000	D	1.000	D	1.79	L	2.21	T	-0.998	T	0.121	T	0.275	2.091	12.95	2.27	0.581	2.609	8.449	0.044	.	.	.	0.0052	0.0004	0.0023	0	0.0008	0.0031	0.0056	0.0231	0.0041849	647	154602	rs758388260	0.0022	0.0041	0.0016	0.0028	0.0160	0.0021	0.0021	0.0153	0.0150	0.0002	0.0011	0.0055	2.52e-05	0.0005	0.0044	0.0013	0.0027	0.0160	0.0010	0.0030	0.0008	0.0011	0.0086	0.0009	0.0008	0.0065	0.0058	0.0002	0	0.0008	0.0029	0	0.0002	0.0035	0.0011	0.0009	0.0086	0.023	0.48186	D	0.018	0.59732	D	0.004	0.12183	B	0.002	0.06944	B	0.000280	0.46590	D	0.226724	0.999435	0.81001	D	1.87	0.49600	L	2.21	0.46028	T	-1.65	0.50337	N	0.178	0.20129	-0.9981	0.30451	T	0.121	0.42208	T	10	0.004401505	0.00090	T	.	.	.	0.044	0.11924	.	.	0.71034540647	0.70781	0.47358462202903356	0.47277	0.609113261058	0.55654	0.382329493761	0.22587	T	0.148085	0.48647	T	-0.141711	0.29619	T	-0.441334	0.28658	T	0.0495586411044562	0.05423	T	0.729627	0.35417	T	0.07418007	0.16629	0.06795538	0.14129	0.07418007	0.16629	0.06795538	0.14129	-5.529	0.42139	T	.	.	0.053	0.01692	B	.;.;.;.	.;.;.;.	2.252065	0.28770	17.91	0.97314621209408192	0.33346	0.95896	0.66622	D	AEFGBI	0.270118	0.38625	N	-0.216092292811573	0.32472	1.831733	-0.212287760807896	0.31094	1.756544	0.997830341347561	0.36087	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.19	2.27	0.27501	2.670000	0.46499	1.350000	0.25801	0.599000	0.40250	0.940000	0.32642	0.004000	0.18990	0.951000	0.49849	0.0:0.7321:0.1267:0.1411	8.449	0.32019	879	0.29470	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	247.98	58	chr12	103979899	.	C	A	247.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.628;DP=983;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.89;MQRankSum=-4.816e+00;QD=4.96;ReadPosRankSum=-5.110e-01;SOR=0.495	GT:AD:DP:GQ:PL	0/1:38,12:50:99:262,0,1198	20	0	1	0
chr12	103980072	103980072	-	ATTGGCATAAACCCG	exonic	TDG	.	nonframeshift insertion	TDG:NM_003211:exon3:c.408_409insATTGGCATAAACCCG:p.P141_G142insIGINP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1301665755	1.369e-06	0.0001	2.724e-06	0	2.989e-05	2.3e-07	9e-08	.	.	2.989e-05	0	0	0	0	0	8.996e-07	0	0	0	4.597e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	46.94	47	chr12	103980072	.	T	TATTGGCATAAACCCG	46.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=1064;ExcessHet=0.0000;FS=18.730;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.17;MQRankSum=-1.019e+01;QD=0.33;ReadPosRankSum=-4.938e+00;SOR=3.290	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGATGGCT	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGATGGCT:p.V186Rfs*42	.	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0029	0.0007	0.0010	0.0017	0.0008	0.0008	0.0015	0.0014	0.0009	0.0017	0.0024	0.0014	0.0011	0.0011	0.0007	0.0012	0.0017	3.977e-05	0.0003	3.886e-05	4.074e-05	0.0002	1.728e-05	1.138e-05	8.08e-06	3.02e-06	4.875e-05	0	0	0	0.0002	0.0002	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2855.73	35	chr12	103984920	.	G	GA,GAGGATGCAAAGAAGATGGCT,GAGGATGCAAAGAAGATGGCTGTTAA,GAGGATGCAAAGAAGAT	2855.73	.	AC=6,1,3,1;AF=0.143,0.024,0.071,0.024;AN=42;BaseQRankSum=2.28;DP=2265;ExcessHet=7.7275;FS=9.950;InbreedingCoeff=-0.3548;MLEAC=6,1,3,1;MLEAF=0.143,0.024,0.071,0.024;MQ=58.63;MQRankSum=-9.857e+00;QD=1.88;ReadPosRankSum=-4.625e+00;SOR=2.064	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,16,0,0,0:133:99:0|1:103984920_G_GA:270,0,4866,624,4914,5538,624,4914,5538,5538,624,4914,5538,5538,5538:103984920	10	0	6	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGATGGCTGTTAA	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGATGGCTGTTAA:p.E188Gfs*8	.	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0003	9.285e-05	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	0.0004	0.0003	7.88e-05	0.0004	0.0002	0.0002	0.0001	0.0002	0.0001	6.627e-06	7.246e-05	0	1.357e-05	1.481e-05	0	0	.	.	0	0	0	0	0	0	0	1.481e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2855.73	35	chr12	103984920	.	G	GA,GAGGATGCAAAGAAGATGGCT,GAGGATGCAAAGAAGATGGCTGTTAA,GAGGATGCAAAGAAGAT	2855.73	.	AC=6,1,3,1;AF=0.143,0.024,0.071,0.024;AN=42;BaseQRankSum=2.28;DP=2265;ExcessHet=7.7275;FS=9.950;InbreedingCoeff=-0.3548;MLEAC=6,1,3,1;MLEAF=0.143,0.024,0.071,0.024;MQ=58.63;MQRankSum=-9.857e+00;QD=1.88;ReadPosRankSum=-4.625e+00;SOR=2.064	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,16,0,0,0:133:99:0|1:103984920_G_GA:270,0,4866,624,4914,5538,624,4914,5538,5538,624,4914,5538,5538,5538:103984920	10	0	6	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGAT	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGAT:p.M184Ifs*9	.	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0.0098	0.0020	0.0024	0.0047	0.0021	0.0021	0.0044	0.0042	0.0028	0.0029	0.0047	0.0013	0.0014	0.0016	0.0020	0.0022	0.0047	1.988e-05	0.0002	0	4.073e-05	4.875e-05	5.29e-06	2.47e-06	8.08e-06	3.02e-06	4.875e-05	0	0	0	0	9.546e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2855.73	35	chr12	103984920	.	G	GA,GAGGATGCAAAGAAGATGGCT,GAGGATGCAAAGAAGATGGCTGTTAA,GAGGATGCAAAGAAGAT	2855.73	.	AC=6,1,3,1;AF=0.143,0.024,0.071,0.024;AN=42;BaseQRankSum=2.28;DP=2265;ExcessHet=7.7275;FS=9.950;InbreedingCoeff=-0.3548;MLEAC=6,1,3,1;MLEAF=0.143,0.024,0.071,0.024;MQ=58.63;MQRankSum=-9.857e+00;QD=1.88;ReadPosRankSum=-4.625e+00;SOR=2.064	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,16,0,0,0:133:99:0|1:103984920_G_GA:270,0,4866,624,4914,5538,624,4914,5538,5538,624,4914,5538,5538,5538:103984920	10	0	6	0
chr12	103984922	103984922	-	TAAGGA	splicing	TDG	NM_001363612:exon7:c.535+2->TAAGGA;NM_003211:exon8:c.964+2->TAAGGA	.	.	.	.	444	951	105	0	22	127	0.0523169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.532e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.505e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	1501.77	35	chr12	103984922	.	T	G,TTAAGGA	1501.77	.	AC=6,1;AF=0.167,0.028;AN=36;BaseQRankSum=4.51;DP=2009;ExcessHet=2.5830;FS=10.970;InbreedingCoeff=-0.2537;MLEAC=7,1;MLEAF=0.194,0.028;MQ=58.73;MQRankSum=-1.024e+01;QD=1.56;ReadPosRankSum=-4.344e+00;SOR=2.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,16,0:134:99:0|1:103984920_G_GA:268,0,4908,624,4956,5580:103984920	11	0	6	3
chr12	103985729	103985729	-	AGAGCGTGGAGTTAAGAGGAGAATCAGCTTTCAGTGGCATTCC	splicing	TDG	NM_001363612:exon8:c.661+1->AGAGCGTGGAGTTAAGAGGAGAATCAGCTTTCAGTGGCATTCC;NM_003211:exon9:c.1090+1->AGAGCGTGGAGTTAAGAGGAGAATCAGCTTTCAGTGGCATTCC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0.0002	0.0002	0	0.0001	0	0.0001	3.84e-05	1	26028	.	1.273e-05	9.077e-06	1.11e-05	1.443e-05	0.0002	5.99e-06	4.34e-06	6.176e-05	3.281e-05	0.0002	0	8.9e-05	0	3.778e-05	0	3.552e-06	3.571e-05	3.391e-05	0	1.22e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	334.4	63	chr12	103985729	.	G	GAGAGCGTGGAGTTAAGAGGAGAATCAGCTTTCAGTGGCATTCC	334.4	.	AC=1;AF=0.033;AN=30;BaseQRankSum=3.23;DP=1642;ExcessHet=0.0000;FS=6.583;InbreedingCoeff=-0.1053;MLEAC=1;MLEAF=0.033;MQ=57.55;MQRankSum=-8.761e+00;QD=3.31;ReadPosRankSum=-3.710e+00;SOR=1.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:97,0:97:99:.:.:0,120,1800	14	0	1	6
chr12	103985730	103985730	-	GG	splicing	TDG	NM_001363612:exon8:c.661+2->GG;NM_003211:exon9:c.1090+2->GG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0014	0.0003	0.0006	0.0002	0.0008	0.0033	0.0030	3.84e-05	1	26028	rs749286024	0.0004	0.0057	0.0003	0.0004	0.0020	0.0004	0.0003	0.0017	0.0016	0.0007	0.0020	0.0004	0.0006	0.0007	0.0004	0.0002	0.0004	0.0014	4.013e-05	0.0061	5.227e-05	2.741e-05	9.835e-05	1.741e-05	1.146e-05	3.292e-05	1.943e-05	9.835e-05	0	0	0	0	9.669e-05	0	1.492e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	4718.56	63	chr12	103985730	.	T	TGGAGTTAAGAGGAG,TGGAGTTAAGAGGAGA,TGG	4718.56	.	AC=2,7,1;AF=0.048,0.167,0.024;AN=42;BaseQRankSum=3.76;DP=1742;ExcessHet=6.1002;FS=6.604;InbreedingCoeff=-0.3125;MLEAC=2,7,1;MLEAF=0.048,0.167,0.024;MQ=56.83;MQRankSum=-7.850e+00;QD=5.90;ReadPosRankSum=-3.934e+00;SOR=1.308	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:91,0,11,0:102:99:0|1:103985728_A_ATTGAGAGC:162,438,4215,0,3777,3744,438,4215,3777,4215:103985728	11	0	2	0
chr12	104067989	104067989	C	T	exonic	HCFC2	.	nonsynonymous SNV	HCFC2:NM_013320:exon3:c.C355T:p.P119S,	.	.	434	1033	51	4	0	59	0.0277647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.84	T	0.0	B	0.0	B	0.018	N	0.995	N	-0.205	N	-0.73	T	-1.003	T	0.097	T	0.297	0.420	6.283	-0.9	0.067	0.481	5.946	0.082	.	0.0019	0.0217652	0.0118	0.0028	0.0015	0.0003	0.0002	0.0020	0.0154	0.0748	0.0103815	1605	154602	rs150909028	0.0055	0.0055	0.0036	0.0074	0.0716	0.0054	0.0053	0.0701	0.0695	0.0022	0.0017	0.0155	0.0002	9.373e-05	0.0138	0.0007	0.0079	0.0716	0.0041	0.0041	0.0031	0.0052	0.0738	0.0039	0.0038	0.0675	0.0650	0.0027	0	0.0012	0.0164	0.0015	9.457e-05	0	0.0010	0.0043	0.0738	0.762	0.06441	T	0.509	0.19188	T	0.0	0.02946	B	0.0	0.01387	B	0.017630	0.27675	N	0.465207	0.994542	0.23495	N	-0.2	0.04182	N	-0.73	0.73100	T	1.14	0.01488	N	0.079	0.05414	-1.0032	0.28992	T	0.097	0.36341	T	10	0.0012520552	0.00014	T	.	.	.	0.082	0.23913	.	.	.	.	0.2593041446709966	0.25844	0.812225268878	0.66784	0.273396193981	0.06588	T	0.025239	0.18911	T	-0.471885	0.00827	T	-0.395535	0.33905	T	0.000383467336503744	0.00003	T	0.70043	0.31009	T	0.028307982	0.02149	0.032848753	0.02084	0.028307982	0.02149	0.032848753	0.02084	-3.569	0.17410	T	.	.	0.060	0.02993	B	.;.	.;.	0.605430	0.09738	6.507	0.72821341790466698	0.10107	0.05369	0.11230	N	AEFBI	0.031441	0.03364	N	-1.11600442923523	0.06358	0.2924515	-0.96389539465514	0.10602	0.5350199	0.989493607714454	0.31844	0.651	0.46895	0	0.708844	0.79440	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	5.64	-0.9	0.10008	0.467000	0.21747	0.047000	0.13948	-0.167000	0.11441	0.035000	0.20724	0.005000	0.19230	0.974000	0.55675	0.0:0.2705:0.1259:0.6036	5.946	0.18456	819	0.41190	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3560.11	34	chr12	104067989	.	C	T	3560.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.178;DP=955;ExcessHet=0.1072;FS=2.062;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.49;ReadPosRankSum=0.613;SOR=0.844	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1167	19	0	2	0
chr12	104251602	104251602	G	C	exonic	TXNRD1	.	unknown	UNKNOWN,	.	.	431	1081	9	1	0	11	0.00506213	.	.	738403	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.731	P	0.13	B	.	.	1.000	N	0.895	L	-0.24	T	-1.006	T	0.120	T	0.165	1.380	10.54	0.88	0.048	0.964	1.974	0.060	0.0138271224247	0.0007	0.000798722	0.0015	0	0.0006	0	0	0.0011	0.0033	0.0064	0.0013389	207	154602	rs200693410	0.0010	0.0010	0.0009	0.0012	0.0083	0.0010	0.0010	0.0065	0.0058	0.0004	0.0006	3.826e-05	5.038e-05	1.873e-05	0.0083	0.0007	0.0012	0.0062	0.0007	0.0007	0.0007	0.0008	0.0046	0.0006	0.0006	0.0031	0.0026	0.0002	0	0.0008	0	0	0	0.0034	0.0009	0.0005	0.0046	0.147	0.25154	T	0.147	0.32783	T	0.731	0.42679	P	0.13	0.32896	B	.	.	.	.	1	0.08975	N	1.895	0.50365	L	-0.24	0.66834	T	-0.69	0.19720	N	0.201	0.22228	-1.0064	0.28034	T	0.120	0.41993	T	9	0.0051448345	0.00112	T	0.013827	0.33526	T	0.060	0.17295	.	.	0.600799045715	0.59760	.	.	0.199921612236	0.22393	0.270602464676	0.06220	T	0.303315	0.67567	T	-0.473897	0.00804	T	-0.449771	0.27723	T	0.00524706877377156	0.00057	T	0.417558	0.11011	T	0.04495692	0.07275	0.04208616	0.04932	0.04495692	0.07275	0.04208616	0.04931	.	.	.	.	.	0.139	0.30502	B	.;.	.;.	0.749671	0.11194	7.829	0.7159681798771208	0.09683	0.11591	0.16734	N	AEFDBI	0.067388	0.13246	N	-0.852172566943832	0.11996	0.5821327	-0.94376530837125	0.11068	0.5616075	0.995435340302536	0.34125	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.85	0.88	0.18296	0.490000	0.22112	2.878000	0.35310	-0.227000	0.07798	0.000000	0.06391	0.863000	0.27509	0.088000	0.17685	0.1815:0.1719:0.491:0.1555	1.974	0.03205	678	0.60190	Glutaredoxin;Glutaredoxin	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1303.98	100	chr12	104251602	.	G	C	1303.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.188e+00;DP=2358;ExcessHet=0.0000;FS=0.791;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.49;ReadPosRankSum=1.03;SOR=0.590	GT:AD:DP:GQ:PL	0/0:134,0:134:99:0,120,1800	20	0	1	0
chr12	104304711	104304711	A	G	exonic	EID3	.	nonsynonymous SNV	EID3:NM_001008394:exon1:c.A777G:p.I259M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.977	D	0.971	D	.	.	1.000	N	1.475	L	0.84	T	-0.872	T	0.158	T	0.437	2.813	15.37	0.502	0.330	-0.285	1.056	0.302	0.0110231514622	.	.	0.0001	0	0	0	0	4.518e-05	0	0.0007	9.06e-05	14	154602	rs753380448	5.269e-05	5.267e-05	2.587e-05	7.978e-05	0.0007	4.279e-05	3.954e-05	0.0005	0.0004	0	2.24e-05	0	0	0	0.0007	1.619e-05	6.627e-05	0.0006	5.256e-05	5.253e-05	2.569e-05	8.069e-05	0.0006	2.557e-05	1.83e-05	0.0002	8.989e-05	4.826e-05	0	0	0	0	0	0	4.41e-05	0	0.0006	0.113	0.28772	T	0.042	0.50226	D	0.977	0.58535	D	0.971	0.72444	D	.	.	.	.	1	0.81001	D	0.835	0.21042	L	0.84	0.47477	T	-1.41	0.34795	N	0.244	0.27554	-0.8715	0.50416	T	0.158	0.49060	T	9	0.25183886	0.42529	T	0.011023	0.28208	T	0.302	0.62290	0.733	0.86633	0.378322506985	0.37446	0.36985087594658306	0.36899	0.593432301809	0.54691	0.473144888878	0.35113	T	0.049631	0.28362	T	-0.38123	0.03060	T	-0.435955	0.29261	T	0.190396830439568	0.19868	T	0.783822	0.42110	T	0.10431016	0.24658	0.13143653	0.31561	0.10431016	0.24658	0.13143653	0.31560	-6.762	0.52276	T	.	.	0.098	0.16275	B	.	.	2.068300	0.26303	17.07	0.99414380180071316	0.63453	0.45859	0.27632	N	AEDBCI	0.125795	0.24245	N	0.0762573660707375	0.45356	2.793574	-0.00143913966828166	0.39650	2.354222	0.999990507025234	0.74766	0.608746	0.35421	0	0.627608	0.54475	0	0.408882	0.06424	0	0.349732	0.05809	1	.	.	4.45	0.502	0.16138	-0.754000	0.04892	0.200000	0.15841	0.756000	0.94297	0.606000	0.27796	0.591000	0.25671	0.999000	0.91618	0.4995:0.2077:0.1085:0.1843	1.056	0.01491	626	0.65439	Non-structural maintenance of chromosome element 4, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2500.98	37	chr12	104304711	.	A	G	2500.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.95;DP=943;ExcessHet=0.0000;FS=1.114;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=0.230;SOR=0.796	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr12	105049990	105049990	A	G	exonic	ALDH1L2	.	nonsynonymous SNV	ALDH1L2:NM_001034173:exon13:c.T1604C:p.V535A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.989	D	0.975	D	0.000	D	1.000	D	-0.165	N	-0.95	T	-0.219	T	0.353	T	0.781	4.968	29.0	5.81	2.225	9.233	16.171	0.627	0.0406147590825	.	.	1.653e-05	0	0	0	0	3.004e-05	0	0	1.29e-05	2	154602	rs755279693	1.37e-06	1.368e-06	1.362e-06	1.377e-06	2.242e-05	2.3e-07	9e-08	.	.	0	2.242e-05	0	0	0	0	9e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.184	0.29056	T	0.989	0.62824	D	0.975	0.73362	D	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.495	0.02627	N	-0.95	0.75438	T	-3.43	0.67359	D	0.882	0.88027	-0.2188	0.77183	T	0.353	0.71627	T	10	0.85340786	0.84527	D	0.040615	0.59475	D	0.627	0.85615	0.509	0.60540	0.891234391995	0.89016	0.8492623669329039	0.84888	0.778182672044	0.65140	0.805928945541	0.82867	D	0.431646	0.77969	T	0.131115	0.67469	D	0.0334259	0.72501	D	0.748671428126274	0.43211	D	0.962604	0.86052	D	0.42736012	0.62579	0.4518643	0.68111	0.42736012	0.62580	0.4518643	0.68111	-9.478	0.70722	D	.	.	0.644	0.70682	P	.	.	4.715300	0.75797	26.4	0.99895711970476286	0.96895	0.99134	0.91726	D	AEFBI	0.927759	0.91092	D	0.565765246088994	0.71047	5.591927	0.648406129285599	0.78491	6.887229	0.999999925956284	0.74766	0.626454	0.40138	0	0.80507	0.99744	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.81	5.81	0.92413	9.220000	0.94329	11.156000	0.87498	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	1.0:0.0:0.0:0.0	16.171	0.81627	927	0.17636	Aldehyde dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1825.98	34	chr12	105049990	.	A	G	1825.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.990;DP=841;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=-3.141e+00;SOR=0.719	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1349	20	0	1	0
chr12	105122179	105122179	C	G	exonic	WASHC4	.	nonsynonymous SNV	WASHC4:NM_001293640:exon10:c.C727G:p.P243A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.192	B	0.043	B	0.000	D	1.000	D	1.3	L	1.66	T	-1.091	T	0.069	T	0.729	2.728	15.08	5.72	2.716	7.518	19.940	0.143	0.0157672803897	.	.	4.149e-05	0	8.661e-05	0	0	3.002e-05	0	0.0001	3.23e-05	5	154602	rs776626849	1.782e-05	1.779e-05	1.774e-05	1.791e-05	0.0002	1.24e-05	1.054e-05	9.796e-05	7.842e-05	0	0	0	0	0	0.0002	7.209e-06	4.976e-05	0.0002	6.582e-06	6.57e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.526	0.07116	T	0.817	0.03863	T	0.192	0.29441	B	0.043	0.24256	B	0.000001	0.84330	D	0.098714	1	0.81001	D	.	.	.	1.66	0.27486	T	-2.11	0.48020	N	0.593	0.65501	-1.0915	0.05286	T	0.069	0.28147	T	10	0.2600579	0.43450	T	0.015767	0.36685	T	0.143	0.38195	0.353	0.35246	0.568285537894	0.56494	0.3702114291709014	0.36935	0.215138462999	0.24049	0.706216156483	0.68044	T	0.005723	0.22156	T	-0.12291	0.32649	T	-0.177659	0.56738	T	0.19294111430645	0.20016	T	0.932007	0.74652	D	0.10110468	0.23879	0.19841634	0.43673	0.10110468	0.23879	0.19841634	0.43672	-3.152	0.11903	T	0.17145677444465504	0.21613	0.176	0.41828	B	.;.	.;.	2.989097	0.39896	21.1	0.94030710126409189	0.24144	0.98868	0.87925	D	AEFBI	0.846468	0.76334	D	0.146843581499717	0.48663	3.075797	0.338166129143861	0.57799	3.946986	0.999999999998941	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.72	5.72	0.89380	7.603000	0.82048	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.940	0.97160	856	0.34373	WASH complex subunit 7, N-terminal;WASH complex subunit 7, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	441.98	33	chr12	105122179	.	C	G	441.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.233;DP=727;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.52;ReadPosRankSum=-9.310e-01;SOR=0.889	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1005	20	0	1	0
chr12	106239646	106239646	G	A	exonic	CKAP4	.	nonsynonymous SNV	CKAP4:NM_006825:exon2:c.C1187T:p.S396L,	.	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.013	B	0.003	B	0.693	N	1.000	N	1.245	L	-1.11	T	-0.920	T	0.279	T	0.132	0.320	5.733	0.892	0.112	0.380	4.660	0.110	.	.	0.00638978	0.0031	0	0.0009	0	0	3.008e-05	0	0.0219	0.0027102	419	154602	rs375178726	0.0013	0.0013	0.0008	0.0019	0.0213	0.0013	0.0013	0.0205	0.0201	2.987e-05	8.944e-05	0	5.038e-05	1.872e-05	0.0009	1.799e-05	0.0014	0.0213	0.0008	0.0008	0.0005	0.0012	0.0249	0.0007	0.0007	0.0212	0.0199	7.214e-05	0	0	0	0.0002	9.416e-05	0	1.47e-05	0	0.0249	0.154	0.24277	T	1.0	0.01155	T	0.013	0.16609	B	0.003	0.08700	B	0.692517	0.06155	N	1.181770	1	0.08975	N	1.3	0.32576	L	-1.11	0.77466	T	-2.16	0.48850	N	0.084	0.06059	-0.9200	0.45554	T	0.279	0.65079	T	10	0.0029112399	0.00047	T	.	.	.	0.110	0.31079	0.294	0.25720	0.4147015802	0.41088	.	.	0.232613419967	0.25798	0.273899912834	0.06655	T	0.046218	0.27359	T	-0.482084	0.00719	T	-0.449	0.27806	T	0.00945625406961346	0.00122	T	0.605739	0.22785	T	0.04556925	0.07481	0.06535213	0.13232	0.04556925	0.07481	0.06535213	0.13232	-3.991	0.23669	T	.	.	0.090	0.12750	B	.	.	1.136555	0.15237	11.69	0.96170373962086253	0.28926	0.19939	0.20853	N	AEFDBI	0.174143	0.30126	N	-0.890762061943879	0.11062	0.5318141	-0.912096872344374	0.11808	0.6038442	0.940501322223616	0.27434	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	0.892	0.18364	0.554000	0.23113	3.673000	0.39443	0.676000	0.76740	0.000000	0.06391	0.649000	0.25954	0.008000	0.08271	0.3125:0.0:0.547:0.1405	4.660	0.12023	907	0.22727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	692.98	34	chr12	106239646	.	G	A	692.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.540e-01;DP=777;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.06;ReadPosRankSum=1.26;SOR=0.791	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr12	106247599	106247599	-	GGA	exonic	CKAP4	.	nonframeshift insertion	CKAP4:NM_006825:exon1:c.252_253insTCC:p.S84_A85insS,	.	.	397	1116	8	1	0	10	0.0044603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0042	0.0081869	0.0107	0	0	0.0104	.	0.0105	0.0161	0.0112	0.0008279	128	154602	rs576389141	0.0074	0.0073	0.0074	0.0074	0.0227	0.0072	0.0072	0.0210	0.0204	0.0009	0.0078	0.0097	0.0227	0.0253	0.0017	0.0069	0.0061	0.0054	0.0083	0.0088	0.0068	0.0098	0.0125	0.0079	0.0077	0.0099	0.0090	0.0015	0	0.0092	0.0118	0.0125	0.0350	0	0.0081	0.0079	0.0102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	142.21	13	chr12	106247599	.	C	CGGA	142.21	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.674;DP=291;ExcessHet=0.0000;FS=7.635;InbreedingCoeff=-0.0392;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.78;ReadPosRankSum=-9.760e-01;SOR=1.103	GT:AD:DP:GQ:PL	0/0:14,0:14:39:0,39,585	20	0	1	0
chr12	106843900	106843900	G	A	exonic	RIC8B	.	nonsynonymous SNV	RIC8B:NM_001330146:exon5:c.G1066A:p.E356K	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.992	D	0.711	P	0.000	D	1.000	D	1.195	L	0.8	T	-1.015	T	0.145	T	0.83	4.804	27.1	5.51	2.583	7.734	13.684	0.219	0.0338189461304	7.7e-05	.	8.242e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs373445717	1.71e-05	1.71e-05	1.225e-05	2.2e-05	4.637e-05	1.174e-05	9.92e-06	1.583e-05	9.3e-06	2.987e-05	0	0	0	0	0	1.709e-05	1.656e-05	4.637e-05	3.956e-05	3.943e-05	3.863e-05	4.053e-05	6.569e-05	1.72e-05	1.133e-05	1.172e-05	6.25e-06	4.845e-05	0	6.569e-05	0	0	0	0	4.414e-05	0	0	0.007	0.59928	D	0.244	0.24123	T	0.992	0.64738	D	0.711	0.54536	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.155	0.29575	L	0.8	0.48769	T	-1.39	0.35792	N	0.635	0.65416	-1.0146	0.25464	T	0.145	0.46768	T	10	0.4388925	0.57972	T	0.033819	0.55248	D	0.219	0.51417	.	.	0.335916738318	0.33200	0.5732562847627387	0.57254	1.39510571996	0.85073	0.851890683174	0.89899	D	0.010	0.19675	T	0.0884395	0.63012	D	-0.0138851	0.69430	D	0.796423554420471	0.46112	D	0.966903	0.87955	D	0.3798113	0.59303	0.33876213	0.59650	0.3798113	0.59303	0.33876213	0.59650	-11.297	0.87538	D	.	.	0.876	0.81236	P	.;.;.;.	.;.;.;.	5.566761	0.92187	32	0.99923168052027167	0.98917	0.98093	0.79538	D	AEFBI	0.822133	0.74253	D	0.474483777122033	0.65603	4.843525	0.545256231572262	0.71067	5.598874	0.999998716583867	0.74766	0.706298	0.61202	0	0.601575	0.49859	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.51	5.51	0.81769	7.930000	0.87066	9.934000	0.82603	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.074:0.0:0.926:0.0	13.684	0.61985	405	0.82444	Synembryn;Synembryn;.;Synembryn	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1357.98	37	chr12	106843900	.	G	A	1357.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.96;DP=908;ExcessHet=0.0000;FS=1.419;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=0.959;SOR=0.818	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1065	20	0	1	0
chr12	108292437	108292437	C	T	exonic	CMKLR1	.	nonsynonymous SNV	CMKLR1:NM_001142344:exon3:c.G526A:p.V176I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.005	B	0.01	B	0.060	N	1.000	N	1.095	L	-0.56	T	-0.958	T	0.162	T	0.09	0.254	5.373	-0.993	-0.222	-0.421	10.195	0.067	0.0273439033869	.	.	.	.	.	.	.	.	.	.	.	.	.	rs905167425	8.893e-06	8.893e-06	6.806e-06	1.1e-05	0.0003	4.96e-06	3.82e-06	6.092e-05	2.521e-05	2.987e-05	2.236e-05	0	2.519e-05	0	0.0003	5.396e-06	1.656e-05	1.159e-05	1.315e-05	1.314e-05	0	2.694e-05	0.0001	2.19e-06	8.2e-07	2.263e-05	9.08e-06	0	0	0.0001	0	0	0	0	0	0	0	0.651	0.04832	T	0.724	0.05274	T	0.005	0.12996	B	0.01	0.14941	B	0.059913	0.22288	N	0.490836	0.999823	0.20203	N	0.465	0.13073	N	-0.56	0.71187	T	-0.06	0.07882	N	0.058	0.03841	-0.9582	0.39516	T	0.162	0.49831	T	10	0.094821244	0.16888	T	0.027344	0.50169	D	0.067	0.19503	0.458	0.52427	0.636416215821	0.63342	0.14089208706169173	0.14012	0.129099127502	0.14556	0.329607546329	0.14874	T	0.036568	0.24153	T	-0.358111	0.04238	T	-0.57065	0.15391	T	0.0168518043360703	0.00438	T	0.806319	0.45571	T	0.04994715	0.08948	0.047388133	0.06815	0.04994715	0.08948	0.047388133	0.06815	-3.21	0.12826	T	.	.	0.081	0.08465	B	.;.;.;.	.;.;.;.	0.523643	0.08922	5.705	0.82017418267376707	0.13976	0.03847	0.09199	N	AEFDBI	0.099122	0.19960	N	-0.959821576537024	0.09474	0.44851	-0.908324219586581	0.11898	0.6089269	0.998713083750343	0.37518	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.32	-0.993	0.09706	-0.645000	0.05506	-2.021000	0.04333	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.983000	0.59808	0.0:0.5058:0.0:0.4942	10.195	0.42225	893	0.26510	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;.;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2639.98	34	chr12	108292437	.	C	T	2639.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=953;ExcessHet=0.0000;FS=5.022;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=-1.098e+00;SOR=0.748	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1326	20	0	1	0
chr12	108519456	108519456	C	T	exonic	FICD	.	nonsynonymous SNV	FICD:NM_007076:exon3:c.C1358T:p.T453M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	1.79	L	.	.	-0.230	T	0.430	T	0.694	4.685	25.9	6.02	2.865	7.122	20.541	0.235	0.0244077763877	7.7e-05	.	8.591e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs372450332	3.768e-05	3.831e-05	4.906e-05	2.618e-05	8.971e-05	2.964e-05	2.66e-05	2.832e-05	2.511e-05	8.971e-05	0	0	2.522e-05	7.511e-05	0	3.783e-05	4.973e-05	2.32e-05	3.291e-05	3.285e-05	1.286e-05	5.392e-05	0.0002	1.263e-05	7.99e-06	1.171e-05	6.25e-06	2.418e-05	0	0	0	0	0	0	4.411e-05	0	0.0002	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.045575	1	0.81001	D	2.52	0.73523	M	.	.	.	-0.95	0.25332	N	0.571	0.59393	-0.2296	0.76898	T	0.430	0.77206	T	9	0.6197666	0.67910	D	0.024408	0.47398	T	0.235	0.53788	.	.	0.684844282287	0.68215	0.717776681358616	0.71720	0.884053583182	0.69892	0.569028913975	0.48540	T	0.057613	0.30615	T	0.0822132	0.62299	D	0.0618451	0.74367	D	0.922557294368744	0.58275	D	0.742826	0.36203	T	0.29832962	0.52754	0.33096468	0.58960	0.29832962	0.52754	0.33096468	0.58959	-4.51	0.31019	T	.	.	0.105	0.19194	B	.	.	4.472345	0.69705	25.4	0.99891454219802056	0.96513	0.99280	0.93881	D	AEFDBCI	0.800105	0.72618	D	0.840990273348937	0.88587	9.635423	0.852160128548935	0.93143	11.851	1.0	0.98316	0.562547	0.31514	0	0.577304	0.33150	0	0.536957	0.11973	0	0.635551	0.53088	0	.	.	6.02	6.02	0.97559	7.455000	0.79783	3.171000	0.36612	0.599000	0.40250	1.000000	0.71638	0.997000	0.33255	0.998000	0.85391	0.0:1.0:0.0:0.0	20.541	0.99263	888	0.27761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3069.98	43	chr12	108519456	.	C	T	3069.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.66;DP=961;ExcessHet=0.0000;FS=0.490;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.43;ReadPosRankSum=2.15;SOR=0.741	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1140	20	0	1	0
chr12	108623185	108623185	C	A	exonic	SELPLG	.	nonsynonymous SNV	SELPLG:NM_001206609:exon2:c.G1171T:p.G391W	.	.	397	1124	1	0	0	1	0.000444642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.387	N	1.000	N	0.895	L	0.87	T	-0.930	T	0.194	T	0.366	2.691	14.96	3.86	2.183	1.674	11.518	0.113	0.0189733840666	.	0.000199681	0.0002	0	0	0	0	0	0	0.0012	0.0001229	19	154602	rs530229175	3.011e-05	3.078e-05	1.089e-05	4.952e-05	0.0005	2.282e-05	2.033e-05	0.0004	0.0003	0	0	0	2.519e-05	0	0	0	1.656e-05	0.0005	1.971e-05	1.969e-05	0	4.033e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.996e-05	0	0	0	0	0	0	0	0	0	0.0006	0.001	0.78490	D	0.003	0.79402	D	1.0	0.90584	D	0.989	0.78396	D	0.386963	0.13309	N	0.620316	1	0.08975	N	1.79	0.46772	L	0.8	0.48769	T	-3.8	0.72471	D	0.255	0.29659	-0.9301	0.44124	T	0.194	0.54797	T	10	0.03750959	0.02109	T	0.018973	0.41201	T	0.113	0.31778	0.366	0.37361	0.491592572028	0.48794	0.19539350359160973	0.19456	0.57321118132	0.53386	0.322140336037	0.13745	T	0.344815	0.71328	T	-0.344958	0.05052	T	-0.36102	0.37936	T	0.429073667830852	0.30026	T	0.746525	0.37327	T	0.12098649	0.28458	0.2298423	0.48068	0.12098649	0.28458	0.2298423	0.48067	-8.841	0.66668	D	.	.	0.345	0.56278	A	.;.;.	.;.;.	3.311375	0.45497	22.1	0.99273936449880984	0.57661	0.19932	0.20851	N	AEFBCI	0.216502	0.34173	N	-0.000116266878780191	0.41850	2.510693	-0.161562628147241	0.32965	1.880818	0.99996615156406	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.573078	0.19857	0	0.620204	0.46100	0	.	.	3.86	3.86	0.43689	1.672000	0.37139	3.142000	0.36487	0.599000	0.40250	0.005000	0.17040	0.070000	0.22201	0.073000	0.16832	0.0:1.0:0.0:0.0	11.518	0.49783	853	0.34956	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	918.98	33	chr12	108623185	.	C	A	918.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.87;DP=763;ExcessHet=0.0000;FS=0.978;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.14;ReadPosRankSum=-1.477e+00;SOR=0.537	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,974	20	0	1	0
chr12	108702805	108702805	G	A	exonic	CORO1C	.	nonsynonymous SNV	CORO1C:NM_001105237:exon1:c.C145T:p.R49C,	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.013	B	0.001	B	.	.	0.837	N	.	.	0.0	T	-0.961	T	0.131	T	0.05	0.699	7.729	-0.774	-0.006	-0.255	3.578	0.068	0.0267399795889	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs757863204	4.866e-05	4.788e-05	4.015e-05	5.739e-05	0.0002	3.887e-05	3.553e-05	4.229e-05	3.867e-05	6.423e-05	2.909e-05	0	0	0	0.0002	5.392e-05	5.213e-05	2.548e-05	4.601e-05	4.597e-05	1.285e-05	8.073e-05	7.35e-05	2.11e-05	1.527e-05	2.846e-05	1.858e-05	2.414e-05	0	6.551e-05	0	0	0	0	7.35e-05	0	0	0.018	0.63226	D	0.085	0.41074	T	.	.	.	.	.	.	.	.	.	.	0.999976	0.28686	N	.	.	.	-0.15	0.65192	T	0.35	0.05706	N	0.111	0.09772	-0.9614	0.38916	T	0.131	0.44208	T	8	0.082533896	0.13631	T	0.02674	0.49621	D	0.068	0.19811	0.525	0.62967	0.187035705434	0.18338	0.27722016411051936	0.27635	.	.	0.466047406197	0.34139	T	.	.	.	-0.390161	0.02684	T	-0.601244	0.12707	T	0.0504458099603653	0.05577	T	0.284972	0.08000	T	.	.	.	.	.	.	.	.	-4.082	0.25024	T	.	.	0.187	0.46470	B	.;.	.;.	0.809793	0.11805	8.378	0.9040305555448187	0.19664	0.33709	0.24893	N	AEFDBCIJ	0.068568	0.13532	N	-0.852420998881912	0.11991	0.5818011	-0.874256973609776	0.12706	0.6551371	0.999917799302274	0.45857	0.45559	0.09716	2	0.519925	0.08708	0	0.491513	0.07944	0	0.322989	0.05693	1	.	.	4.79	-0.774	0.10437	-0.204000	0.09426	0.908000	0.22604	-0.113000	0.14837	0.875000	0.30889	0.896000	0.27899	0.786000	0.37147	0.3957:0.0:0.4222:0.182	3.578	0.07493	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	548.98	33	chr12	108702805	.	G	A	548.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.68;DP=764;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.85;ReadPosRankSum=-5.780e-01;SOR=0.760	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr12	108702856	108702859	AAGT	-	exonic	CORO1C	.	frameshift deletion	CORO1C:NM_001105237:exon1:c.91_94del:p.T31Qfs*23,	.	.	425	1091	6	0	0	6	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	0	0	0	0	0.0003	0	0.0032	0.0001746	27	154602	rs769043002	0.0007	0.0007	0.0006	0.0009	0.0041	0.0007	0.0007	0.0037	0.0036	9.503e-05	0	7.943e-05	2.801e-05	0.0014	0.0016	0.0006	0.0005	0.0041	0.0006	0.0006	0.0006	0.0007	0.0025	0.0005	0.0005	0.0014	0.0011	7.215e-05	0	0.0002	0	0	0.0013	0	0.0010	0	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1676.94	33	chr12	108702855	.	GAAGT	G	1676.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=842;ExcessHet=0.0000;FS=4.501;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.31;ReadPosRankSum=0.561;SOR=1.053	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr12	108792729	108792729	G	A	exonic	SSH1	.	nonsynonymous SNV	SSH1:NM_001161331:exon13:c.C1483T:p.P495S	.	.	398	1122	2	0	0	2	0.000890472	.	.	2816805	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.78	T	0.037	B	0.017	B	0.511	N	0.999	N	-0.345	N	3.02	T	-0.960	T	0.009	T	0.081	-0.396	2.146	-0.768	-0.105	0.289	10.278	0.019	0.00749653410147	0.0022	0.00239617	0.0022	0.0011	0.0023	0	0.0076	0.0025	0.0067	0.0002	0.0021733	336	154602	rs145141884	0.0022	0.0022	0.0022	0.0022	0.0023	0.0021	0.0021	0.0022	0.0022	0.0004	0.0023	0.0009	0	0.0055	0.0023	0.0023	0.0024	0.0001	0.0022	0.0022	0.0021	0.0023	0.0026	0.0020	0.0019	0.0023	0.0021	0.0009	0	0.0020	0.0006	0	0.0073	0	0.0026	0.0066	0	0.616	0.07354	T	0.822	0.03806	T	0.004	0.20876	B	0.009	0.18140	B	0.511072	0.05147	N	1.326920	0.998663	0.22000	N	-0.345	0.03330	N	2.83	0.10975	T	0.24	0.04533	N	0.117	0.10626	-0.9595	0.39274	T	0.009	0.03271	T	10	0.0030886233	0.00051	T	0.007497	0.19899	T	0.019	0.03383	.	.	0.174091166621	0.17034	0.17653599983893398	0.17572	0.25520024391	0.28107	0.307935208082	0.11595	T	0.044129	0.26721	T	-0.675933	0.00051	T	-0.748323	0.03552	T	0.00152596018502866	0.00015	T	0.639136	0.25234	T	0.023596598	0.01112	0.040761396	0.04479	0.023596598	0.01112	0.040761396	0.04479	-5.047	0.38201	T	.	.	0.074	0.05535	B	.;.;.	.;.;.	0.536393	0.09050	5.833	0.52276849056569552	0.04717	0.30176	0.24014	N	AEFDGBCI	0.070784	0.14064	N	-1.35320825832093	0.03092	0.1375677	-1.24545848471019	0.05198	0.2471169	0.999646368507301	0.41316	0.67177	0.52595	0	0.702456	0.74545	0	0.679469	0.61720	0	0.741806	0.99463	0	.	.	5.46	-0.768	0.10458	0.374000	0.20232	1.165000	0.24581	-0.792000	0.03237	0.844000	0.30348	0.806000	0.26994	0.020000	0.11549	0.6015:0.0:0.3985:0.0	10.278	0.42703	872	0.31118	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1415.98	33	chr12	108792729	.	G	A	1415.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=788;ExcessHet=0.0000;FS=2.488;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=1.11;SOR=0.826	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1408	20	0	1	0
chr12	108807666	108807666	G	A	exonic	SSH1	.	nonsynonymous SNV	SSH1:NM_001161331:exon7:c.C731T:p.T244M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.998	D	0.949	D	0.000	D	1.000	D	1.61	L	1.27	T	-0.925	T	0.181	T	0.268	1.964	12.52	5.35	2.488	5.242	18.051	0.114	0.00973362549824	.	.	3.305e-05	0	0	0	0	3.006e-05	0	0.0001	3.23e-05	5	154602	rs774153220	1.232e-05	1.231e-05	9.531e-06	1.514e-05	8.962e-05	7.7e-06	6.35e-06	2.995e-05	2.038e-05	8.962e-05	0	0	2.521e-05	0	0	6.298e-06	1.657e-05	6.957e-05	6.594e-06	6.57e-06	0	1.351e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.031	0.45039	D	0.1	0.38742	T	0.986	0.73220	D	0.749	0.68658	P	0.000087	0.51296	D	0.203828	0.61892	0.81001	D	2.08	0.57402	M	1.27	0.36146	T	-2.56	0.55983	D	0.392	0.45615	-0.9251	0.44844	T	0.181	0.52843	T	10	0.30910945	0.48401	T	0.009734	0.25404	T	0.114	0.32008	0.269	0.21735	0.339940258815	0.33601	0.5282154174277344	0.52745	0.284214640594	0.30848	0.587517797947	0.51144	T	0.091626	0.38835	T	-0.273435	0.11377	T	-0.393879	0.34097	T	0.512461245059967	0.33088	D	0.915508	0.69822	D	0.10963873	0.25921	0.11936199	0.28810	0.10963873	0.25920	0.11936199	0.28810	-6.812	0.61336	T	.	.	0.074	0.05579	B	.;.;.	.;.;.	4.688242	0.75090	26.3	0.97555303612245292	0.34593	0.89671	0.50286	D	AEFDGBCI	0.514144	0.54164	D	0.487561409814262	0.66361	4.940388	0.473428577047099	0.66234	4.925694	0.999999992284099	0.74766	0.67177	0.52595	0	0.577304	0.33150	0	0.65145	0.50148	0	0.711	0.71501	0	.	.	5.35	5.35	0.76297	5.344000	0.65751	11.757000	0.95541	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.411000	0.27028	0.0:0.0:1.0:0.0	18.051	0.89272	872	0.31118	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	795.98	34	chr12	108807666	.	G	A	795.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.07;DP=788;ExcessHet=0.0000;FS=0.838;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.47;ReadPosRankSum=-6.300e-02;SOR=0.556	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1016	20	0	1	0
chr12	108887506	108887506	C	T	exonic	DAO	.	nonsynonymous SNV	DAO:NM_001917:exon3:c.C251T:p.A84V,	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.959	D	0.000	D	1.000	D	2.535	M	1.17	T	0.425	D	0.683	D	0.545	3.707	18.83	5.52	2.599	5.665	18.024	0.500	0.139380528404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.72154	T	0.012	0.66756	D	1.0	0.90584	D	0.959	0.70163	D	0.000000	0.84330	D	0.049901	0.644584	0.81001	D	2.895	0.83812	M	1.17	0.80125	T	-2.76	0.67477	D	0.234	0.26354	0.425	0.89475	D	0.683	0.89040	D	10	0.7672936	0.76804	D	0.139381	0.82186	D	0.500	0.78350	0.631	0.76699	0.941913673381	0.94130	0.879160260496193	0.87883	0.296383753577	0.32023	0.41980278492	0.27809	T	0.078023	0.88857	T	0.112105	0.65570	D	-0.0767455	0.65141	T	0.973303735256195	0.70042	D	0.865313	0.56401	D	0.8648069	0.88455	0.70415854	0.82562	0.8648069	0.88456	0.70415854	0.82563	-8.324	0.63257	D	.	.	0.235	0.47665	B	.;.;.	.;.;.	4.521644	0.70897	25.6	0.99883026826557142	0.95892	0.96767	0.70829	D	AEFDBI	0.842534	0.75964	D	0.59920202224022	0.73126	5.915265	0.508282067301402	0.68548	5.235059	0.999999995011097	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.52	5.52	0.82153	5.981000	0.70207	5.860000	0.50423	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.466000	0.28252	0.0:1.0:0.0:0.0	18.024	0.89186	799	0.44747	FAD dependent oxidoreductase;FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1941.98	33	chr12	108887506	.	C	T	1941.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.003e+00;DP=915;ExcessHet=0.0000;FS=1.162;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.368;SOR=0.579	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	20	0	1	0
chr12	109139509	109139509	G	A	exonic	ACACB	.	nonsynonymous SNV	ACACB:NM_001093:exon2:c.G104A:p.S35N,	.	.	.	.	.	.	.	.	.	.	.	2375484	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.0	B	0.001	B	0.456	N	1.000	N	1.5	L	0.76	T	-0.999	T	0.107	T	0.097	1.407	10.64	2.84	0.335	0.042	7.702	0.028	0.00689612359186	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs750878973	1.437e-05	1.437e-05	1.633e-05	1.238e-05	0.0002	9.23e-06	7.84e-06	1.174e-05	9.55e-06	0	0	0	0	0	0.0002	1.799e-05	0	0	6.573e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.125	0.27310	T	0.0	0.92824	D	0.0	0.02946	B	0.001	0.04355	B	0.455966	0.12449	N	0.739768	1	0.08975	N	1.955	0.52871	M	0.76	0.49919	T	-0.62	0.61284	N	0.077	0.05162	-0.9986	0.30311	T	0.107	0.38906	T	10	0.09435046	0.16769	T	0.006896	0.18233	T	0.028	0.06331	.	.	0.271763555656	0.26798	0.04155179673027719	0.04100	0.221885408441	0.24726	0.328330993652	0.14681	T	0.341097	0.71004	T	-0.296348	0.09008	T	-0.66346	0.08035	T	0.0634503471908699	0.07700	T	0.39666	0.09990	T	0.040642202	0.05840	0.06564378	0.13335	0.040642202	0.05840	0.06564378	0.13335	-5.483	0.41709	T	.	.	0.060	0.13783	B	.;.;.	.;.;.	0.176598	0.05646	2.098	0.93662804358390217	0.23554	0.04264	0.09797	N	AEFBI	0.061167	0.11675	N	-0.779256794451868	0.13852	0.6854274	-0.80250566741432	0.14436	0.7542069	3.01942643106712E-4	0.06454	0.516011	0.20929	0	0.610034	0.51514	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.63	2.84	0.32241	0.052000	0.14046	1.037000	0.23526	0.676000	0.76740	0.000000	0.06391	0.252000	0.23925	0.011000	0.09372	0.2604:0.0:0.7396:0.0	7.702	0.27795	638	0.64280	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1405.98	35	chr12	109139509	.	G	A	1405.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.404;DP=821;ExcessHet=0.0000;FS=3.290;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=0.680;SOR=0.652	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,103,1117	20	0	1	0
chr12	109279865	109279865	A	T	exonic	FOXN4	.	nonsynonymous SNV	FOXN4:NM_213596:exon10:c.T1360A:p.S454T,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	D	1.000	D	2.495	M	-4.37	D	1.012	D	0.935	D	0.233	3.078	16.28	2.55	0.310	3.985	11.342	0.616	0.161453976634	7.7e-05	.	0.0002	9.785e-05	0.0004	0	0	0.0002	0.0011	6.217e-05	0.0001294	20	154602	rs373292889	0.0001	0.0001	0.0001	0.0001	0.0029	9.604e-05	9.084e-05	0.0019	0.0015	0.0002	0.0005	3.826e-05	0	0	0.0029	7.555e-05	0.0004	6.957e-05	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	0.0001	0.0002	0.0001	4.811e-05	0	0.0004	0	0	0	0.0102	0.0002	0.0014	0	0.002	0.72154	D	0.007	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000068	0.52346	D	0.132116	0.999972	0.53665	D	2.14	0.59869	M	-4.48	0.97606	D	-1.67	0.40850	N	0.147	0.17828	1.012	0.97386	D	0.935	0.97860	D	10	0.18890125	0.34466	T	0.161454	0.84125	D	0.616	0.85039	.	.	0.97924222124	0.97902	0.730330328833299	0.72978	0.485592621436	0.47432	0.493072926998	0.37864	T	0.423522	0.77425	T	-0.0925001	0.37663	T	-0.042686	0.67520	D	0.110058211271872	0.13430	T	0.729427	0.34485	T	0.13209848	0.30769	0.17348203	0.39678	0.13209848	0.30769	0.17348203	0.39677	-4.493	0.33777	T	.	.	0.090	0.12750	B	.;.	.;.	2.753855	0.36104	20.2	0.99221060398037886	0.55901	0.94493	0.61343	D	AEFBI	0.552805	0.56432	D	0.358002333054453	0.59164	4.093514	0.224631846836198	0.51218	3.306215	0.0155040275489841	0.12721	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.02	2.55	0.29757	4.857000	0.62639	2.427000	0.32714	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.107000	0.18608	0.7111:0.2889:0.0:0.0	11.342	0.48778	749	0.51929	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3411.08	43	chr12	109279865	.	A	T	3411.08	.	AC=2;AF=0.048;AN=42;DP=835;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.73;SOR=0.748	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1345	20	1	0	0
chr12	109287467	109287467	G	A	exonic	FOXN4	.	nonsynonymous SNV	FOXN4:NM_213596:exon6:c.C526T:p.P176S,	.	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.015	B	0.014	B	0.497	N	1.000	D	1.005	L	-3.21	D	-0.421	T	0.585	D	0.039	1.281	10.19	1.46	0.059	4.334	4.795	0.211	0.0518840421052	.	.	.	.	.	.	.	.	.	.	.	.	.	rs867991777	5.72e-06	5.473e-06	2.821e-06	8.697e-06	8.842e-05	2.46e-06	1.78e-06	4.066e-05	2.854e-05	0	0	0	0	0	0	9.271e-07	0	8.842e-05	6.565e-06	6.562e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.114	0.28646	T	0.132	0.34477	T	0.015	0.17086	B	0.014	0.16862	B	0.496572	0.11998	N	0.759080	0.995436	0.81001	D	1.955	0.52871	M	-3.21	0.93291	D	-1.41	0.34795	N	0.066	0.03841	-0.4208	0.71366	T	0.585	0.85122	D	10	0.12673315	0.24096	T	0.051884	0.64845	D	0.211	0.50185	0.309	0.28128	0.894176079044	0.89312	0.47555440325659626	0.47474	0.201651076388	0.22570	0.461371779442	0.33499	T	0.16656	0.51285	T	-0.165249	0.25956	T	-0.347366	0.39507	T	0.121626732688453	0.14587	T	0.607039	0.22875	T	0.04157765	0.06149	0.06272296	0.12315	0.04157765	0.06148	0.06272296	0.12315	-5.14	0.38326	T	.	.	0.073	0.04558	B	.	.	2.339203	0.29972	18.29	0.96088272444883005	0.28674	0.93614	0.58701	D	AEFDBI	0.673707	0.63967	D	-0.650172001308162	0.17456	0.8983551	-0.553048703809989	0.20725	1.11792	0.0419864379065993	0.14507	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.47	1.46	0.21769	4.435000	0.59685	1.507000	0.26997	-0.134000	0.12905	1.000000	0.71638	1.000000	0.68203	0.296000	0.24405	0.085:0.1909:0.5867:0.1374	4.795	0.12637	742	0.52873	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1037.98	34	chr12	109287467	.	G	A	1037.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=-7.160e-01;SOR=0.752	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1047	20	0	1	0
chr12	109410039	109410039	C	T	exonic	MYO1H	.	stopgain	MYO1H:NM_001101421:exon11:c.C1252T:p.Q418X,	.	.	442	1077	3	0	0	3	0.00139082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	6.641	38	5.0	2.485	7.669	17.660	.	.	.	.	0.0004	0	0.0020	0	0	0	0.0039	0.0009	7.12e-05	11	154602	rs759463407	7.146e-05	7.388e-05	4.701e-05	9.658e-05	0.0009	5.982e-05	5.55e-05	0.0006	0.0005	0	5.806e-05	4.02e-05	0	0	0.0009	2.799e-05	0.0001	0.0007	4.6e-05	4.597e-05	5.139e-05	4.035e-05	0.0006	2.109e-05	1.527e-05	0.0002	8.985e-05	2.412e-05	0	6.554e-05	0	0	0	0	2.939e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.529	0.55799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367026	0.87793	D	0.655873	0.98747	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	9.682441	0.99209	42	0.99846897925528022	0.92663	0.98759	0.86488	D	AEFI	0.354430	0.44651	N	1.15526872121287	0.99032	20.35969	0.993914790484444	0.98506	18.474	0.999999223283159	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.0	5.0	0.66209	7.858000	0.85341	7.581000	0.60964	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	17.660	0.88096	.	.	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1129.98	35	chr12	109410039	.	C	T	1129.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.810e-01;DP=767;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=0.622;SOR=0.773	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1064	20	0	1	0
chr12	109953174	109953174	T	C	exonic	GIT2	.	nonsynonymous SNV	GIT2:NM_001135214:exon13:c.A1160G:p.N387S	.	.	427	1094	1	0	0	1	0.00045683	.	.	1277521	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.3	T	0.109	B	0.099	B	0.000	D	1.000	D	1.87	L	-0.47	T	-0.961	T	0.026	T	0.196	2.076	12.90	5.22	1.978	2.255	14.282	0.145	.	7.7e-05	0.0145767	0.0054	0	0.0003	0.0747	0	0	0	0.0001	0.0049676	768	154602	rs925368	0.0027	0.0027	0.0027	0.0027	0.0958	0.0026	0.0026	0.0933	0.0922	2.987e-05	0.0002	0	0.0958	1.872e-05	0.0002	1.709e-05	0.0019	0.0001	0.0028	0.0028	0.0023	0.0032	0.0800	0.0026	0.0025	0.0737	0.0712	0	0	6.531e-05	0	0.0800	9.423e-05	0	2.94e-05	0.0005	0.0004	0.088	0.34095	T	0.32	0.30045	T	0.01	0.26142	B	0.027	0.30579	B	0.000003	0.62929	D	0.132813	0.998504	0.81001	D	1.445	0.36358	L	-0.56	0.71543	T	-1.73	0.45222	N	0.534	0.56489	-0.9608	0.39031	T	0.026	0.11131	T	10	0.0020668805	0.00029	T	.	.	.	0.145	0.38592	.	.	0.63826945483	0.63529	0.12165101868610946	0.12092	0.517528454387	0.49617	0.506075561047	0.39674	T	0.117043	0.43683	T	-0.445609	0.01199	T	-0.353682	0.38782	T	0.0259033472016651	0.01393	T	0.953705	0.96662	D	0.12608741	0.29542	0.118274905	0.28551	0.12608741	0.29541	0.118274905	0.28550	-4.129	0.26068	T	.	.	0.076	0.10062	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.803283	0.54811	23.5	0.98305378696901513	0.40087	0.93651	0.58804	D	AEFBI	0.399284	0.47463	N	-0.181013414670229	0.33926	1.930378	-0.0513962169231911	0.37430	2.191448	0.999999006596762	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.22	5.22	0.72285	2.246000	0.42794	5.072000	0.47187	0.609000	0.47794	0.996000	0.39380	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	14.282	0.65767	577	0.69927	.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	465.98	34	chr12	109953174	.	T	C	465.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.577;DP=764;ExcessHet=0.0000;FS=0.961;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.75;ReadPosRankSum=-1.260e-01;SOR=0.824	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1018	20	0	1	0
chr12	109999768	109999768	A	G	exonic	ANKRD13A	.	nonsynonymous SNV	ANKRD13A:NM_033121:exon1:c.A80G:p.K27R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.001	B	0.002	B	0.003	N	1.000	D	1	L	-0.16	T	-1.047	T	0.123	T	0.152	2.050	12.81	2.83	0.682	2.619	7.460	0.043	0.0551018950332	.	.	7.093e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs754182669	5.808e-06	6.156e-06	4.299e-06	7.359e-06	0.0001	2.5e-06	1.81e-06	5.142e-05	3.707e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.13879	T	0.352	0.17372	T	0.0	0.02946	B	0.0	0.01387	B	0.003499	0.34874	N	0.341227	0.802747	0.34533	D	0.775	0.19437	N	-0.16	0.65378	T	-0.61	0.18042	N	0.08	0.05542	-1.0466	0.15361	T	0.123	0.42652	T	10	0.066952646	0.09258	T	0.055102	0.66109	D	0.043	0.11576	0.42	0.46200	0.502443086328	0.49881	0.08349868443930669	0.08283	0.207319878051	0.23183	0.468147873878	0.34426	T	0.012047	0.10654	T	-0.314603	0.07348	T	-0.415382	0.31606	T	0.0927662761635071	0.11541	T	0.80202	0.44827	T	0.055082995	0.10657	0.06191987	0.12034	0.055082995	0.10657	0.06191987	0.12034	-4.22	0.27040	T	.	.	0.072	0.04080	B	.	.	2.646980	0.34459	19.63	0.97044623745005998	0.32126	0.64797	0.32524	D	AEFDBCI	0.308966	0.41540	N	-0.449703711105968	0.23750	1.277596	-0.303823974076501	0.27975	1.556245	0.999999959526591	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.581474	0.35302	0	.	.	3.98	2.83	0.32150	2.360000	0.43805	5.644000	0.49159	0.731000	0.85647	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8995:0.0:0.1005:0.0	7.460	0.26461	615	0.66512	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	942.98	33	chr12	109999768	.	A	G	942.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.890e-01;DP=768;ExcessHet=0.0000;FS=2.009;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.28;ReadPosRankSum=0.260;SOR=1.075	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1133	20	0	1	0
chr12	110346405	110346405	A	G	exonic	ATP2A2	.	nonsynonymous SNV	ATP2A2:NM_170665:exon20:c.A3064G:p.I1022V,	Acrokeratosis verruciformis, Autosomal dominant;Darier disease, Autosomal dominant	.	0	1503	19	0	0	19	0.00628099	.	.	1196093	ATP2A2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.001	B	0.001	B	0.004	N	1.000	N	0	N	-3.38	D	-0.486	T	0.560	D	0.1	-0.119	3.415	3.75	0.544	2.591	9.163	0.057	0.0522981064482	0.0006	0.00119808	0.0010	0	0.0009	0	0	0.0007	0.0033	0.0034	0.0008085	125	154602	rs140234740	0.0005	0.0005	0.0005	0.0006	0.0029	0.0005	0.0005	0.0024	0.0023	0	0.0007	0	0	1.872e-05	0.0029	0.0004	0.0008	0.0027	0.0005	0.0005	0.0004	0.0005	0.0037	0.0004	0.0003	0.0024	0.0020	4.81e-05	0	0.0003	0	0	9.413e-05	0	0.0006	0.0009	0.0037	0.619	0.05325	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.003923	0.34318	N	0.351393	1	0.81001	D	0.695	0.17993	N	-3.38	0.94161	D	-0.08	0.08187	N	0.073	0.04668	-0.4858	0.69158	T	0.560	0.83956	D	9	0.0050418377	0.00109	T	0.052298	0.65013	D	0.257	0.56827	.	.	0.666493358032	0.66368	0.4309511518547669	0.43012	0.389368794045	0.40179	0.318109154701	0.13134	T	0.256222	0.62711	T	-0.35386	0.04490	T	-0.283493	0.46446	T	0.0298743736483675	0.01970	T	0.792121	0.43364	T	0.07554232	0.17026	0.041280497	0.04657	0.09638595	0.22701	0.035535995	0.02823	-3.132	0.11668	T	.	.	0.060	0.00964	B	.	.	1.718582	0.21882	15.39	0.89262801978036976	0.18648	0.86448	0.45730	D	AEFBCI	0.390889	0.46954	N	-0.371737250377401	0.26480	1.445551	-0.154932614662954	0.33219	1.897941	0.999910516201505	0.45857	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.07	3.75	0.42236	2.599000	0.45895	3.210000	0.36796	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8458:0.0:0.1542:0.0	9.163	0.36198	235	0.90838	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1226.98	35	chr12	110346405	.	A	G	1226.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.260e-01;DP=806;ExcessHet=0.0000;FS=2.103;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.53;ReadPosRankSum=-1.970e-01;SOR=1.047	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1445	20	0	1	0
chr12	110628923	110628923	G	A	exonic	TCTN1	.	nonsynonymous SNV	TCTN1:NM_001319682:exon4:c.G461A:p.S154N,	Joubert syndrome 13, Autosomal recessive	.	.	.	.	.	.	.	.	0.9819	0.712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0426171191547	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	3.42e-06	5.448e-06	1.376e-06	4.497e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	0.06109	T	0.302	0.32608	B	0.121	0.32300	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.157	0.16308	.	.	.	.	.	.	.	0.15333271	0.28945	T	0.042617	0.60557	D	.	.	.	.	0.614370161906	0.61125	.	.	.	.	.	.	.	.	.	.	-0.33182	0.05975	T	-0.714413	0.05070	T	.	.	.	0.284972	0.05045	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27613	B	.	.	2.472231	0.31864	18.87	0.68165143318971155	0.08575	0.15893	0.19132	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.828579610106998	0.24652	0.106106	0.02776	0	0.097471	0.02872	0	0.083675	0.02720	0	0.109871	0.03346	0	.	.	5.28	1.32	0.20897	1.425000	0.34467	6.317000	0.55438	0.672000	0.70159	0.932000	0.32345	1.000000	0.68203	0.839000	0.39591	0.34:0.1612:0.4988:0.0	4.316	0.10433	186	0.92733	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.07895	56.42	83	chr12	110628923	.	G	A	56.42	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-4.935e+00;DP=1798;ExcessHet=0.3300;FS=174.600;InbreedingCoeff=-0.1262;MLEAC=3;MLEAF=0.079;MQ=60.00;MQRankSum=0.00;QD=0.13;ReadPosRankSum=0.585;SOR=9.641	GT:AD:DP:GQ:PL	0/0:100,0:100:62:0,62,1782	16	0	3	2
chr12	111362925	111362925	G	A	exonic	PHETA1	.	nonsynonymous SNV	PHETA1:NM_001177997:exon3:c.C503T:p.P168L	.	.	0	225	1	0	0	1	0.00221729	.	.	3467028	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.57	T	0.768	P	0.051	B	.	.	1.000	N	0.69	N	1.46	T	-1.041	T	0.085	T	0.119	-1.230	0.059	0.137	0.291	-0.457	6.211	0.023	0.00209994177404	.	0.000199681	0	0	0	0	0	0	0	0	7.68e-05	2	26028	rs550615701	8.939e-05	8.961e-05	8.035e-05	9.88e-05	0.0006	7.625e-05	7.135e-05	0.0004	0.0003	0.0006	3.226e-05	4.539e-05	0.0005	0	0	4.817e-05	0.0001	0.0003	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	0.0001	0.0003	0.0003	0.0005	0	6.55e-05	0	0.0006	0	0	0	0	0.0002	0.257	0.16738	T	0.391	0.15456	T	0.768	0.43819	P	0.051	0.25434	B	.	.	.	.	1	0.08975	N	-0.14	0.04484	N	1.45	0.32482	T	-0.92	0.24676	N	0.055	0.03726	-1.0407	0.17101	T	0.085	0.33128	T	9	0.053294957	0.05498	T	0.002	0.03882	T	0.023	0.04649	0.212	0.13066	0.287603790349	0.28378	0.15361265324510434	0.15283	0.440762058902	0.44078	0.564199566841	0.47860	T	0.005022	0.04451	T	-0.51661	0.00460	T	-0.680914	0.06928	T	0.00933630320501859	0.00119	T	0.421758	0.11220	T	0.02326676	0.01052	0.028466888	0.01086	0.02326676	0.01052	0.028466888	0.01086	-6.216	0.48053	T	.	.	0.107	0.20157	B	.;.;.	.;.;.	0.200266	0.05850	2.292	0.21367588606221485	0.00811	0.03152	0.08116	N	AEFDBI	0.084143	0.17052	N	-0.537007177631348	0.20893	1.104794	-0.793506740035509	0.14654	0.7668014	0.999230861903007	0.38840	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	0.137	0.137	0.14085	-0.726000	0.05040	0.103000	0.14675	-0.409000	0.05269	0.016000	0.19238	0.000000	0.08366	0.002000	0.04165	3.0E-4:0.0:0.9997:0.0	6.211	0.19841	620	0.66037	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	887.98	33	chr12	111362925	.	G	A	887.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.774;DP=741;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.12;ReadPosRankSum=-5.250e-01;SOR=0.732	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1089	20	0	1	0
chr12	111518261	111518261	C	T	exonic	ATXN2	.	nonsynonymous SNV	ATXN2:NM_001310123:exon7:c.G766A:p.V256I	Spinocerebellar ataxia 2, Autosomal dominant	.	3	1511	8	0	0	8	0.00264026	.	.	3294104	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.45	T	0.996	D	0.987	D	0.000	D	1.000	D	0.805	L	-0.16	T	-0.704	T	0.276	T	0.274	2.843	15.47	4.27	1.159	7.205	15.012	0.255	0.0273601925724	0.0002	0.000399361	0.0002	9.617e-05	0	0	0	0.0003	0	0.0002	0.0002329	36	154602	rs145810958	0.0002	0.0002	0.0002	0.0002	0.0078	0.0002	0.0002	0.0060	0.0054	0.0004	0.0004	0.0022	2.531e-05	0	0.0078	0.0001	0.0005	0.0002	0.0004	0.0004	0.0003	0.0005	0.0024	0.0003	0.0003	0.0017	0.0015	0.0001	0	0.0024	0.0014	0	0	0.0170	0.0001	0.0005	0.0002	0.027	0.46513	D	0.257	0.35710	T	0.595	0.68779	P	0.192	0.77487	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.075	0.57047	M	-0.16	0.66113	T	-0.45	0.15178	N	0.606	0.67132	-0.7036	0.60266	T	0.276	0.64814	T	10	0.053849548	0.05640	T	0.02736	0.50178	D	0.255	0.56562	.	.	0.452650218784	0.44890	0.18625792326796123	0.18543	1.03974101562	0.75753	0.684398651123	0.64900	T	0.021121	0.53836	T	-0.266444	0.12156	T	-0.271073	0.47712	T	0.167464181780815	0.18406	T	0.838616	0.51177	T	0.12865596	0.30073	0.098489664	0.23482	0.16320188	0.36445	0.12748422	0.30686	-3.988	0.23624	T	.	.	0.114	0.26825	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.569641	0.72080	25.8	0.98688761620608934	0.44723	0.98786	0.86836	D	AEFBI	0.822352	0.74270	D	0.143729654188245	0.48515	3.062858	0.195016708105032	0.49572	3.158892	0.999912651260418	0.45857	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.17	4.27	0.50009	7.286000	0.78031	7.669000	0.64672	-0.218000	0.08083	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.1437:0.8563:0.0:0.0	15.012	0.71214	599	0.68140	.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	688.98	35	chr12	111518261	.	C	T	688.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.395;DP=740;ExcessHet=0.0000;FS=1.006;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.77;ReadPosRankSum=0.833;SOR=0.475	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1234	20	0	1	0
chr12	111598975	111598975	C	0	exonic	ATXN2	.	.	.	Spinocerebellar ataxia 2, Autosomal dominant	.	3	208	8	0	7	15	0.0188679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	490.28	31	chr12	111598975	.	C	T,*	490.28	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-1.004e+00;DP=1004;ExcessHet=0.3300;FS=8.241;InbreedingCoeff=-0.0786;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=6.63;ReadPosRankSum=1.48;SOR=1.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:51,0,0:51:99:.:.:0,120,1800,120,1800,1800	18	0	2	0
chr12	111598993	111598993	C	0	exonic	ATXN2	.	.	.	Spinocerebellar ataxia 2, Autosomal dominant	.	265	331	379	543	4	1469	0.688764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	29227.06	33	chr12	111598993	.	C	*,T	29227.06	.	AC=3,29;AF=0.071,0.690;AN=42;BaseQRankSum=-2.220e-01;DP=1084;ExcessHet=0.2067;FS=0.000;InbreedingCoeff=0.2125;MLEAC=3,29;MLEAF=0.071,0.690;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=-7.290e-01;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,4,46:50:22:1|0:111598949_GGCT_G:2125,1688,1915,178,0,22:111598949	2	0	0	0
chr12	111747068	111747068	C	G	exonic	ACAD10	.	nonsynonymous SNV	ACAD10:NM_025247:exon15:c.C2276G:p.P759R	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.45	H	-6.47	D	0.930	D	0.993	D	0.945	2.421	14.06	4.94	1.472	3.526	13.968	0.842	0.138151249388	.	.	4.284e-05	0	0	0	0	0	0	0.0004	3.23e-05	5	154602	rs756732035	1.442e-05	1.436e-05	1.092e-05	1.796e-05	0.0002	9.27e-06	7.87e-06	0.0002	0.0001	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000065	0.52346	D	0.126422	0.999524	0.47407	D	4.315	0.98322	H	-6.47	0.99702	D	-8.11	0.96693	D	0.919	0.92200	0.930	0.96098	D	0.993	0.99847	D	10	0.9276243	0.92107	D	0.138151	0.82065	D	0.842	0.95063	0.742	0.87401	0.992078387343	0.99199	0.9011174588541458	0.90083	0.623396991974	0.56572	0.569672822952	0.48631	T	0.854075	0.96704	D	0.323934	0.84748	D	0.523725	0.95099	D	0.997618734836578	0.91988	D	0.998	0.99100	D	0.61736006	0.73622	0.49463198	0.70772	0.61736006	0.73623	0.49463198	0.70772	-13.468	0.92087	D	.	.	0.794	0.79411	P	.;.	.;.	4.261381	0.64760	24.7	0.9959972442236501	0.74101	0.93083	0.57284	D	AEFBI	0.320027	0.42325	N	0.583342802631442	0.72135	5.758359	0.358851961849975	0.59043	4.078904	0.992785763351375	0.32967	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.83	4.94	0.64645	3.430000	0.52575	4.612000	0.44040	0.595000	0.32841	0.877000	0.30928	1.000000	0.68203	0.871000	0.41478	0.0:0.926:0.0:0.074	13.968	0.63733	453	0.79178	.;Acyl-CoA dehydrogenase/oxidase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	728.98	34	chr12	111747068	.	C	G	728.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.498e+00;DP=797;ExcessHet=0.0000;FS=2.955;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.19;ReadPosRankSum=-1.143e+00;SOR=1.036	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr12	111781942	111781942	G	A	exonic	ALDH2	.	nonsynonymous SNV	ALDH2:NM_000690:exon2:c.G139A:p.D47N	Alcohol sensitivity, acute, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.031	B	0.021	B	0.000	N	1.000	D	1.81	L	2.34	T	-0.663	T	0.352	T	0.151	0.439	6.383	3.34	0.223	5.199	14.354	0.163	0.0137110114201	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1052140419	2.737e-06	2.736e-06	4.085e-06	1.375e-06	2.237e-05	6.4e-07	4.3e-07	.	.	0	2.237e-05	3.828e-05	0	0	0	0	1.656e-05	1.16e-05	6.578e-06	6.569e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.485	0.08115	T	0.327	0.22359	T	0.026	0.19406	B	0.017	0.18140	B	0.000000	0.84330	N	0.048431	0.822938	0.34803	D	1.55	0.39271	L	2.34	0.76430	T	0.2	0.04861	N	0.323	0.36359	-0.6630	0.62144	T	0.352	0.71541	T	10	0.15540811	0.29292	T	0.013711	0.33318	T	0.163	0.42028	0.533	0.64148	0.284539287134	0.28064	0.5842174360410501	0.58350	0.29747313459	0.32131	0.39106374979	0.23819	T	0.339869	0.70896	T	-0.0932906	0.37533	T	-0.371782	0.36680	T	0.13856828212738	0.16151	T	0.80142	0.44736	T	0.5741423	0.71287	0.25112057	0.50717	0.5741423	0.71288	0.25112057	0.50716	-2.783	0.14048	T	.	.	0.121	0.25232	B	.;.;.	.;.;.	1.921113	0.24402	16.38	0.82654038441916544	0.14304	0.96535	0.69625	D	AEFDGBI	0.817826	0.73922	D	-0.725674381555968	0.15302	0.7699927	-0.680157551205322	0.17458	0.9283508	0.99999609219379	0.74766	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.17	3.34	0.37357	4.689000	0.61410	2.936000	0.35641	-0.104000	0.15758	1.000000	0.71638	0.999000	0.35428	0.179000	0.21265	0.1351:0.0:0.8649:0.0	14.354	0.66280	364	0.84707	.;.;Aldehyde dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1197.98	40	chr12	111781942	.	G	A	1197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.955;DP=885;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.58;ReadPosRankSum=0.739;SOR=0.667	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr12	111803888	111803888	A	G	exonic	ALDH2	.	nonsynonymous SNV	ALDH2:NM_001204889:exon11:c.A1295G:p.Q432R	Alcohol sensitivity, acute, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.998	D	0.999	D	0.000	D	1.000	D	0.09	N	-0.98	T	-0.144	T	0.387	T	0.893	5.154	32	6.05	2.311	8.931	16.599	0.602	0.0250667227395	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1363211124	6.844e-07	6.84e-07	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.254	0.24621	T	0.856	0.47190	P	0.965	0.71173	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	-0.13	0.04535	N	-0.98	0.75789	T	-2.09	0.50502	N	0.759	0.77413	-0.1442	0.79062	T	0.387	0.74239	T	10	0.7503093	0.75588	D	0.025067	0.48051	D	0.602	0.84291	0.529	0.63560	0.907868606411	0.90695	0.8305240101704047	0.83011	1.0463327506	0.75963	0.729191243649	0.71388	T	0.634925	0.88732	D	0.328419	0.85057	D	0.233975	0.84861	D	0.789711952209473	0.45671	D	0.965703	0.87317	D	0.8849698	0.90080	0.7723809	0.86565	0.8849698	0.90081	0.7723809	0.86565	-11.219	0.80845	D	.	.	0.562	0.71884	A	.;.	.;.	4.522792	0.70923	25.6	0.99826978150363033	0.90939	0.99592	0.97780	D	AEFDBI	0.969877	0.99222	D	0.558242431860142	0.70586	5.523239	0.652888456573621	0.78827	6.95506	0.999999959053495	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.05	6.05	0.98156	8.942000	0.92506	11.205000	0.89184	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.915000	0.45038	1.0:0.0:0.0:0.0	16.599	0.84659	331	0.86429	.;Aldehyde dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	998.98	113	chr12	111803888	.	A	G	998.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.360e+00;DP=791;ExcessHet=0.0000;FS=0.706;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.84;ReadPosRankSum=1.04;SOR=0.828	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1221	20	0	1	0
chr12	111803962	111803962	G	A	exonic	ALDH2	.	nonsynonymous SNV	ALDH2:NM_001204889:exon11:c.G1369A:p.E457K	Alcohol sensitivity, acute, Autosomal dominant	.	0	1519	2	1	0	4	0.00131492	.	.	33429	AMED_syndrome,_digenic|Susceptibility_to_hangover|Sublingual_nitroglycerin,_susceptibility_to_poor_response_to|Esophageal_cancer,_alcohol-related,_susceptibility_to|Alcohol_sensitivity,_acute|Alcohol_dependence|ethanol_response_-_Toxicity	MONDO:MONDO:0030894,MedGen:C5436906,OMIM:619151,Orphanet:611216|MedGen:C2608086|MedGen:C2676227|MedGen:C3149226|MONDO:MONDO:0012454,MedGen:C2674838,OMIM:610251|Human_Phenotype_Ontology:HP:0030955,MONDO:MONDO:0007079,MedGen:C0001973,OMIM:103780|.	reviewed_by_expert_panel	drug_response	.	.	.	.	.	.	.	.	0	D	1.0	D	0.98	D	0.000	D	0.000	P	2.145	M	-1.13	T	-1.114	T	0.001	T	0.856	5.594	35	6.05	2.866	9.654	20.609	0.603	.	.	0.0357428	0.0213	0.0001	0.0011	0.2660	0	6.2e-05	0.0045	0.0002	0.0148122	2290	154602	rs671	0.0070	0.0070	0.0070	0.0069	0.2461	0.0068	0.0068	0.2420	0.2403	0.0001	0.0003	0	0.2461	3.771e-05	0.0002	3.607e-05	0.0059	0.0002	0.0078	0.0080	0.0067	0.0090	0.2249	0.0075	0.0073	0.2141	0.2098	0.0002	0	0.0009	0	0.2249	9.436e-05	0	2.94e-05	0.0047	0.0008	0.001	0.78490	D	0.018	0.59732	D	0.964	0.55854	D	0.9	0.63913	P	0.000000	0.84330	D	0.000000	1.51794e-07	0.58761	P	1.275	0.32135	L	-1.13	0.77719	T	-3.42	0.67589	D	0.48	0.51494	-1.1143	0.02725	T	0.001	0.00318	T	9	0.001886636	0.00026	T	.	.	.	0.603	0.84345	.	.	.	.	0.8914064971685514	0.89110	1.0029003514	0.74471	0.694746732712	0.66387	T	0.720783	0.92107	D	-0.10205	0.36085	T	0.224456	0.84397	D	0.101933660921122	0.12568	T	0.987751	0.95824	D	0.9531528	0.96586	0.9483129	0.98297	0.9531528	0.96587	0.9483129	0.98297	-11.753	0.85911	D	.	.	0.902	0.82877	P	.;.	.;.	5.371320	0.90048	31	0.99923974063030097	0.98917	0.99838	0.99773	D	AEFDBI	0.970794	0.99299	D	0.852133059192022	0.89230	9.886821	0.865479742025659	0.93886	12.351	0.999999999999567	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.05	6.05	0.98156	9.784000	0.98199	9.925000	0.82535	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.917000	0.45243	0.0:0.0:1.0:0.0	20.609	0.99471	331	0.86429	.;Aldehyde dehydrogenase domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	803.98	41	chr12	111803962	.	G	A	803.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.000e-03;DP=776;ExcessHet=0.0000;FS=0.817;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.93;ReadPosRankSum=-3.240e-01;SOR=0.581	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1221	20	0	1	0
chr12	111870307	111870307	A	C	exonic	MAPKAPK5	.	nonsynonymous SNV	MAPKAPK5:NM_001371485:exon4:c.A223C:p.I75L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.027	B	0.118	B	0.000	D	1.000	D	2.5	M	-0.63	T	-0.504	T	0.287	T	0.49	3.830	19.45	4.43	0.922	6.131	11.677	0.366	0.0272393729378	0.0008	0.00139776	0.0010	0.0005	0.0014	0	0	0.0014	0	0.0005	0.0010155	157	154602	rs199721843	0.0010	0.0010	0.0010	0.0010	0.0019	0.0009	0.0009	0.0016	0.0014	0.0002	0.0019	3.831e-05	0	0.0002	0.0007	0.0011	0.0009	0.0002	0.0010	0.0010	0.0010	0.0009	0.0019	0.0008	0.0008	0.0014	0.0012	0.0005	0	0.0019	0	0	9.429e-05	0	0.0013	0.0028	0	0.025	0.47320	D	0.047	0.48855	D	0.0	0.13644	B	0.001	0.16012	B	0.000000	0.84330	D	0.051093	0.999926	0.81001	D	1.695	0.43389	L	-0.63	0.72011	T	-1.89	0.44094	N	0.564	0.58798	-0.5038	0.68512	T	0.287	0.65919	T	10	0.021787226	0.00529	T	0.027239	0.50072	D	0.366	0.68582	.	.	0.805171108572	0.80334	0.5419242756704408	0.54117	0.542510288734	0.51359	0.73964369297	0.72920	T	0.234425	0.60145	T	-0.272624	0.11465	T	-0.170858	0.57364	T	0.0281872301552378	0.01715	T	0.906009	0.66877	D	0.41876587	0.62009	0.24636097	0.50144	0.41876587	0.62010	0.24636097	0.50143	-10.134	0.74775	D	.	.	0.657	0.71213	P	.;.	.;.	3.450669	0.48049	22.6	0.97784849013605635	0.35957	0.97522	0.75297	D	AEFBI	0.681119	0.64458	D	0.0821788270907794	0.45631	2.816518	0.196749961635058	0.49667	3.167287	0.999958349227684	0.48110	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.6	4.43	0.52967	6.018000	0.70464	8.101000	0.76556	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.93:0.0:0.07:0.0	11.677	0.50700	142	0.94345	.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1438.98	37	chr12	111870307	.	A	C	1438.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.44;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.25;ReadPosRankSum=1.54;SOR=0.629	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1270	20	0	1	0
chr12	112022598	112022598	C	G	exonic	ERP29	.	nonsynonymous SNV	ERP29:NM_006817:exon3:c.C732G:p.S244R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.01	B	0.006	B	0.000	D	1.000	N	-0.235	N	.	.	-0.985	T	0.035	T	0.222	-0.617	1.258	1.91	0.367	0.034	5.918	0.024	0.00251450127318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.14284	T	0.01	0.15535	B	0.006	0.12133	B	0.000074	0.52346	D	0.174068	1	0.81001	D	-0.315	0.03579	N	.	.	.	2.81	0.00170	N	0.19	0.22614	-0.9845	0.33951	T	0.035	0.15160	T	9	0.036563873	0.01961	T	0.002515	0.05009	T	0.024	0.04979	0.388	0.40951	0.278968121808	0.27521	0.2770171790625302	0.27614	0.222575520605	0.24794	0.736786007881	0.72500	T	0.09587	0.39710	T	-0.187	0.22699	T	-0.506389	0.21688	T	0.0392646235391162	0.03557	T	0.758424	0.38228	T	0.25631148	0.48669	0.123685546	0.29823	0.25631148	0.48669	0.123685546	0.29822	4.136	0.00007	T	.	.	0.768	0.75841	P	.;.	.;.	1.036915	0.14174	10.75	0.73783142045630035	0.10454	0.59777	0.31009	D	AEFDBHCI	0.405123	0.47813	N	-0.885709356935407	0.11182	0.5382435	-0.661028896847405	0.17938	0.9560947	0.999998771353767	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.75	1.91	0.24841	0.053000	0.14067	-0.208000	0.10880	-0.206000	0.08541	0.903000	0.31499	0.017000	0.20586	0.980000	0.58198	0.0:0.5146:0.2208:0.2647	5.918	0.18306	131	0.94738	Endoplasmic reticulum resident protein 29, C-terminal|Endoplasmic reticulum resident protein 29, C-terminal;Endoplasmic reticulum resident protein 29, C-terminal|Endoplasmic reticulum resident protein 29, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1166.98	35	chr12	112022598	.	C	G	1166.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.599e+00;DP=818;ExcessHet=0.0000;FS=0.765;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=-2.910e-01;SOR=0.829	GT:AD:DP:GQ:PL	0/1:50,49:99:99:1181,0,1286	20	0	1	0
chr12	112235221	112235221	G	A	exonic	HECTD4	.	nonsynonymous SNV	HECTD4:NM_001109662:exon37:c.C5801T:p.T1934I,	.	.	428	1091	3	0	0	3	0.001373	.	.	2333223	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	0.977	N	0	N	0.81	T	-1.023	T	0.067	T	0.089	2.267	13.54	3.14	0.386	4.744	7.857	0.109	0.00397975833368	.	.	0.0002	0	0.0002	0	0	0.0001	0	0.0009	0.0001746	27	154602	rs755513621	0.0001	0.0001	8.304e-05	0.0001	0.0014	9.941e-05	9.35e-05	0.0008	0.0007	0	8.944e-05	0	0	0	0.0014	6.116e-05	8.282e-05	0.0009	5.257e-05	5.254e-05	6.424e-05	4.035e-05	0.0008	2.557e-05	1.83e-05	0.0003	0.0002	0	0	0	0	0	0	0	5.88e-05	0	0.0008	.	.	.	0.031	0.53788	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.129	0.12341	-1.0231	0.22704	T	0.067	0.27606	T	9	0.01901552	0.00420	T	0.00398	0.09431	T	0.109	0.30843	.	.	0.043077524339	0.03247	0.33669043152445377	0.33582	0.700501834841	0.61099	0.508578062057	0.40023	T	0.010137	0.09180	T	-0.510996	0.00495	T	-0.563135	0.16083	T	0.0383012663463128	0.03386	T	0.922708	0.71908	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	2.807980	0.36954	20.4	0.99632948958673906	0.76142	0.88229	0.48064	D	AEFBI	0.236050	0.35855	N	-0.439334377551995	0.24103	1.299117	-0.297636355765225	0.28176	1.568921	0.00123711108384716	0.08362	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	6.03	3.14	0.35196	4.841000	0.62523	5.149000	0.47746	0.676000	0.76740	1.000000	0.71638	0.998000	0.33993	0.761000	0.36181	0.1428:0.0:0.7263:0.1309	7.857	0.28647	101	0.95833	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1096.98	33	chr12	112235221	.	G	A	1096.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.529e+00;DP=794;ExcessHet=0.0000;FS=2.516;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.25;ReadPosRankSum=-7.570e-01;SOR=0.965	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1168	20	0	1	0
chr12	112235243	112235243	T	A	exonic	HECTD4	.	nonsynonymous SNV	HECTD4:NM_001109662:exon37:c.A5779T:p.T1927S,	.	.	426	1095	1	0	0	1	0.000456413	.	.	3191692	HECTD4-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.002	B	0.003	B	.	.	1.000	D	0	N	0.96	T	-1.092	T	0.050	T	0.08	3.292	17.06	6.03	2.302	4.690	16.566	0.060	0.00071054867033	0.0041	0.00139776	0.0026	0.0010	0.0007	0	0.0008	0.0042	0.0011	0.0006	0.0029624	458	154602	rs111790702	0.0052	0.0052	0.0053	0.0051	0.0064	0.0051	0.0050	0.0063	0.0062	0.0007	0.0008	0.0012	2.519e-05	0.0007	0.0019	0.0064	0.0042	0.0009	0.0028	0.0028	0.0030	0.0026	0.0054	0.0026	0.0025	0.0049	0.0047	0.0010	0	0.0005	0	0	9.416e-05	0	0.0054	0.0033	0.0008	.	.	.	0.616	0.07543	T	.	.	.	.	.	.	.	.	.	.	0.997719	0.44125	D	.	.	.	.	.	.	.	.	.	0.123	0.21969	-1.0920	0.05207	T	0.050	0.21222	T	9	0.0058683753	0.00131	T	7.11E-4	0.00454	T	0.060	0.17295	.	.	0.043077524339	0.03247	0.1659903895255529	0.16519	0.573995921077	0.53440	0.484073996544	0.36618	T	0.004906	0.04322	T	-0.557584	0.00262	T	-0.56858	0.15579	T	0.0143301920940597	0.00286	T	0.80032	0.44603	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	2.023969	0.25718	16.86	0.98910114609892907	0.48363	0.97549	0.75477	D	AEFBI	0.621250	0.60601	D	-0.101275346701701	0.37338	2.170815	0.140056368065171	0.46618	2.904872	0.864137033819218	0.25284	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	6.03	6.03	0.97798	4.671000	0.61283	6.163000	0.54371	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.815000	0.38403	0.0:0.0:0.0:1.0	16.566	0.84437	101	0.95833	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1049.98	33	chr12	112235243	.	T	A	1049.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.246;DP=783;ExcessHet=0.0000;FS=5.333;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-1.216e+00;SOR=0.313	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1168	20	0	1	0
chr12	112969968	112969968	G	A	exonic	OAS3	.	nonsynonymous SNV	OAS3:NM_006187:exon16:c.G3259A:p.V1087M,	.	.	416	1101	5	0	0	5	0.00226552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.971	D	0.825	P	.	.	1.000	N	1.39	L	3.26	T	-1.051	T	0.012	T	0.214	2.702	14.99	1.67	0.657	1.256	5.205	0.073	.	0.0025	0.0111821	0.0051	0.0148	0.0038	0.0293	0	0.0005	0.0099	0.0074	0.0036222	560	154602	rs45620632	0.0018	0.0018	0.0017	0.0019	0.0243	0.0017	0.0017	0.0230	0.0225	0.0132	0.0028	0	0.0243	0	0.0069	0.0003	0.0031	0.0067	0.0046	0.0046	0.0045	0.0048	0.0239	0.0043	0.0042	0.0205	0.0192	0.0121	0	0.0010	0	0.0239	0	0.0034	0.0003	0.0033	0.0075	0.001	0.78490	D	0.002	0.79402	D	0.971	0.57185	D	0.825	0.59331	P	.	.	.	.	0.998073	0.22636	N	2.075	0.57047	M	3.26	0.06681	T	-0.47	0.15178	N	0.152	0.15609	-1.0508	0.14175	T	0.012	0.04700	T	9	0.0069549084	0.00158	T	.	.	.	0.073	0.21317	.	.	0.326345978581	0.32251	0.13171651565396178	0.13096	0.206661996556	0.23098	0.448494285345	0.31738	T	0.012288	0.10825	T	-0.541638	0.00328	T	-0.533217	0.18968	T	0.0430366376457403	0.04244	T	0.711229	0.32236	T	0.06177721	0.12831	0.118430346	0.28588	0.06177721	0.12830	0.118430346	0.28588	-5.095	0.37855	T	.	.	0.166	0.36535	B	.	.	3.061432	0.41119	21.3	0.99739855961419721	0.83409	0.43496	0.27111	N	AEFGBCI	0.056852	0.10542	N	0.0050213790785397	0.42084	2.528999	-0.144398560940454	0.33625	1.925342	0.999986217728054	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.601832	0.32385	0	0.655142	0.61905	0	.	.	2.58	1.67	0.23149	1.271000	0.32700	0.703000	0.20862	0.676000	0.76740	0.899000	0.31403	0.331000	0.24373	0.805000	0.37950	0.1672:0.0:0.8328:0.0	5.205	0.14608	126	0.94940	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	739.98	49	chr12	112969968	.	G	A	739.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.732e+00;DP=738;ExcessHet=0.0000;FS=2.605;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.10;ReadPosRankSum=-5.570e-01;SOR=0.358	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1124	20	0	1	0
chr12	112998270	112998270	G	A	exonic	OAS2	.	nonsynonymous SNV	OAS2:NM_002535:exon5:c.G868A:p.V290I	.	.	414	1089	19	0	0	19	0.00864816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.79	P	0.323	B	0.862	U	0.985	N	1.59	L	0.77	T	-1.014	T	0.103	T	0.069	0.068	4.368	-0.104	0.086	0.719	6.109	0.074	0.00697867996318	7.7e-05	0.000798722	0.0006	0	0.0003	0	0	0.0001	0	0.0039	0.0005369	83	154602	rs200414201	0.0003	0.0003	0.0002	0.0005	0.0059	0.0003	0.0003	0.0043	0.0038	0	6.749e-05	0	0	0	0.0059	5.578e-05	0.0007	0.0040	0.0002	0.0002	0.0001	0.0003	0.0048	0.0002	0.0001	0.0033	0.0028	2.406e-05	0	0.0003	0	0	0	0.0034	7.351e-05	0.0005	0.0048	0.024	0.47745	D	0.325	0.31629	T	0.79	0.44599	P	0.323	0.41825	B	0.861645	0.08890	U	0.898107	0.999964	0.18878	N	1.83	0.48079	L	0.77	0.49642	T	-0.08	0.19297	N	0.208	0.23506	-1.0142	0.25593	T	0.103	0.38069	T	10	0.009461015	0.00213	T	0.006979	0.18485	T	0.074	0.21613	.	.	0.163833314356	0.15978	0.08903371763424756	0.08836	0.146539839719	0.16541	0.365369975567	0.20165	T	0.039115	0.25078	T	-0.571457	0.00217	T	-0.594155	0.13307	T	0.0206940150406869	0.00769	T	0.631037	0.28733	T	0.07605688	0.17176	0.056180265	0.09992	0.07605688	0.17176	0.056180265	0.09992	-5.004	0.37886	T	.	.	0.104	0.18869	B	.;.;.;.	.;.;.;.	1.342825	0.17492	13.20	0.84009990996807493	0.15045	0.12794	0.17483	N	AEFBI	0.038875	0.05567	N	-0.870252814964664	0.11555	0.5582519	-0.959881559264031	0.10695	0.5402693	0.990007639850114	0.32006	0.722319	0.85440	0	0.698795	0.70079	0	0.547309	0.15389	0	0.579976	0.35079	0	.	.	3.82	-0.104	0.12943	1.205000	0.31914	0.344000	0.17410	-0.823000	0.02940	0.642000	0.28102	0.009000	0.19889	0.114000	0.18915	0.4725:0.0:0.5275:0.0	6.109	0.19311	237	0.90758	2'-5'-oligoadenylate synthetase 1, domain 2/C-terminal|2-5-oligoadenylate synthetase, conserved site;.;2'-5'-oligoadenylate synthetase 1, domain 2/C-terminal|2-5-oligoadenylate synthetase, conserved site;2'-5'-oligoadenylate synthetase 1, domain 2/C-terminal|2-5-oligoadenylate synthetase, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1003.98	37	chr12	112998270	.	G	A	1003.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=767;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.98;ReadPosRankSum=0.596;SOR=0.829	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1280	20	0	1	0
chr12	113005076	113005076	C	T	exonic	OAS2	.	nonsynonymous SNV	OAS2:NM_002535:exon7:c.C1322T:p.A441V	.	.	419	1101	2	0	0	2	0.000907441	.	.	3362915	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.98	D	0.494	P	0.025	N	1.000	N	2.295	M	1.69	T	-0.962	T	0.073	T	0.058	1.980	12.58	-3.01	-0.430	-0.467	0.146	0.105	0.0162128555176	.	.	4.13e-05	0	8.676e-05	0	0	6.005e-05	0	0	3.23e-05	5	154602	rs780629467	2.668e-05	2.668e-05	3.131e-05	2.2e-05	0.0014	1.997e-05	1.754e-05	0.0007	0.0005	0	4.472e-05	0	0	0	0.0014	2.428e-05	1.656e-05	1.159e-05	2.629e-05	2.627e-05	2.57e-05	2.691e-05	5.881e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.881e-05	0	0	0.046	0.40573	D	0.068	0.45530	T	0.98	0.59353	D	0.494	0.47478	P	0.025424	0.01630	N	2.744970	1	0.08975	N	2.66	0.77858	M	1.69	0.27032	T	-3.3	0.65858	D	0.124	0.11626	-0.9623	0.38742	T	0.073	0.29451	T	10	0.15062323	0.28485	T	0.016213	0.37354	T	0.105	0.29889	.	.	0.30212335484	0.29822	0.18077114377777978	0.17996	0.175416242646	0.19744	0.26268196106	0.05214	T	0.259065	0.63029	T	-0.432094	0.01440	T	-0.702084	0.05713	T	0.483736366033554	0.32034	T	0.364364	0.08448	T	0.035695765	0.04252	0.065610595	0.13322	0.035695765	0.04251	0.065610595	0.13321	-5.322	0.40160	T	.	.	0.117	0.30660	B	.;.;.	.;.;.	0.362136	0.07350	3.965	0.92916451715907644	0.22476	0.03399	0.08513	N	AEFGBI	0.072563	0.14487	N	-0.831499734111657	0.12510	0.6102328	-1.0444893457145	0.08822	0.4356681	0.00138210821318524	0.08495	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	4.43	-3.01	0.05132	-0.940000	0.04039	-2.472000	0.03712	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3018:0.236:0.1486:0.3136	0.146	0.00082	259	0.89842	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1825.98	36	chr12	113005076	.	C	T	1825.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.950e-01;DP=849;ExcessHet=0.0000;FS=2.063;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=0.295;SOR=0.710	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1129	20	0	1	0
chr12	113127832	113127832	G	A	exonic	RASAL1	.	nonsynonymous SNV	RASAL1:NM_001193521:exon4:c.C278T:p.A93V	.	.	404	1089	28	1	0	30	0.013587	.	.	713346	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.34	T	0.653	P	0.115	B	0.059	N	1.000	N	0.49	N	2.98	T	-0.976	T	0.008	T	0.264	-0.956	0.331	1.92	0.649	0.507	3.130	0.017	.	0.0075	0.00738818	0.0084	0.0022	0.0042	0	0.0055	0.0101	0.0122	0.0139	0.0079624	1231	154602	rs146551951	0.0096	0.0096	0.0095	0.0097	0.0123	0.0094	0.0094	0.0117	0.0114	0.0022	0.0056	0.0071	5.043e-05	0.0056	0.0047	0.0103	0.0094	0.0123	0.0071	0.0071	0.0073	0.0069	0.0131	0.0067	0.0066	0.0105	0.0099	0.0017	0	0.0074	0.0066	0.0002	0.0043	0.0068	0.0109	0.0095	0.0131	0.342	0.12632	T	0.434	0.13557	T	0.184	0.40782	B	0.014	0.31843	B	0.059176	0.22344	N	0.493986	0.999842	0.20103	N	1.345	0.33447	L	2.98	0.09356	T	-0.72	0.22294	N	0.193	0.25622	-0.9761	0.35882	T	0.008	0.02884	T	10	0.0050355196	0.00108	T	.	.	.	0.017	0.02790	.	.	0.411401001288	0.40751	0.352845300908533	0.35198	0.294821894989	0.31898	0.385520458221	0.23036	T	0.011193	0.10021	T	-0.582659	0.00186	T	-0.598695	0.12921	T	0.00202395652669937	0.00021	T	0.776522	0.40874	T	0.049587294	0.08829	0.03540467	0.02787	0.049587294	0.08828	0.03540467	0.02786	-3.7	0.21328	T	0.14540798866455798	0.16692	0.082	0.10256	B	.;.;.;.	.;.;.;.	2.447649	0.31515	18.76	0.35405338665834779	0.02220	0.17063	0.19672	N	AEFDBI	0.135380	0.25569	N	-0.845387034176186	0.12163	0.5912431	-0.834392559455634	0.13663	0.7100093	0.856361246458402	0.25141	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	5.04	1.92	0.24912	0.501000	0.22286	1.671000	0.27955	-0.166000	0.11466	0.000000	0.06391	0.817000	0.27092	0.025000	0.12405	0.0865:0.1557:0.437:0.3209	3.130	0.06034	688	0.59122	.;C2 domain|C2 domain;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1614.98	34	chr12	113127832	.	G	A	1614.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.830e-01;DP=837;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=-9.000e-03;SOR=0.641	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1210	20	0	1	0
chr12	113149862	113149862	C	T	exonic	CFAP73	.	nonsynonymous SNV	CFAP73:NM_001144872:exon1:c.C5T:p.A2V,	.	.	422	1096	4	0	0	4	0.00182149	.	.	2816889	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.961	D	0.186	B	.	.	1.000	N	1.7	L	1.65	T	-1.018	T	0.046	T	0.224	3.360	17.32	0.322	0.060	0.346	1.780	0.111	0.0121149682219	0.0031	0.00159744	0.0032	0.0009	0.0049	0	0	0.0060	0.0054	0.0009	0.0011061	171	154602	rs61748300	0.0046	0.0044	0.0047	0.0045	0.0053	0.0045	0.0045	0.0052	0.0051	0.0009	0.0017	0.0064	0	0.0021	0.0026	0.0053	0.0045	0.0015	0.0030	0.0030	0.0032	0.0028	0.0052	0.0028	0.0027	0.0047	0.0046	0.0009	0	0.0012	0.0061	0	0.0021	0	0.0052	0.0028	0.0004	0.044	0.41096	D	0.048	0.48594	D	0.961	0.55431	D	0.186	0.36104	B	.	.	.	.	1	0.08975	N	.	.	.	1.65	0.27650	T	-1.94	0.45042	N	0.197	0.21710	-1.0182	0.24301	T	0.046	0.19720	T	9	0.0068102777	0.00155	T	0.012115	0.30386	T	0.111	0.31313	.	.	0.0762999501168	0.06990	0.32556365601465215	0.32469	.	.	0.489486694336	0.37367	T	0.043245	0.26440	T	-0.540612	0.00332	T	-0.546021	0.17710	T	0.02127944754485	0.00830	T	0.577542	0.20782	T	0.044798356	0.07223	0.07409671	0.16172	0.044798356	0.07222	0.07409671	0.16172	-6.928	0.53507	T	.	.	0.241	0.47513	B	.	.	3.004498	0.40157	21.1	0.99631315988652147	0.76081	0.06149	0.12130	N	ALL	0.041951	0.06446	N	-0.648126601244379	0.17515	0.9019454	-0.812214719459214	0.14200	0.740744	0.999986189849868	0.51787	0.59774	0.34471	0	0.59043	0.45803	0	0.587068	0.30358	0	0.63947	0.58350	0	.	.	3.3	0.322	0.15131	0.766000	0.26225	0.936000	0.22816	-0.347000	0.05626	0.524000	0.27143	0.385000	0.24635	0.085000	0.17524	0.3655:0.346:0.1787:0.1098	1.780	0.02847	696	0.58299	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1254.98	49	chr12	113149862	.	C	T	1254.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.629e+00;DP=817;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=1.07;SOR=0.714	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1370	20	0	1	0
chr12	113152000	113152000	C	G	exonic	CFAP73	.	nonsynonymous SNV	CFAP73:NM_001144872:exon2:c.C139G:p.Q47E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.046	B	0.021	B	0.417	N	0.994	N	1.01	L	2.36	T	-1.027	T	0.030	T	0.14	1.631	11.41	3.52	2.280	0.425	15.015	0.062	0.00389152698856	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1366798906	2.144e-06	2.052e-06	0	4.347e-06	3.787e-05	5.7e-07	1.6e-07	1.006e-05	4.79e-06	0	0	0	0	0	0	0	0	3.787e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.109	0.37449	T	0.046	0.21875	B	0.021	0.19346	B	0.417156	0.12918	N	0.644479	0.994466	0.23512	N	.	.	.	2.36	0.16089	T	-1.97	0.45587	N	0.12	0.11054	-1.0270	0.21429	T	0.030	0.12979	T	10	0.05716884	0.06523	T	0.003892	0.09148	T	0.062	0.17934	0.336	0.32491	0.0482279557977	0.04254	0.04554937655359647	0.04498	.	.	0.196083128452	0.00352	T	0.005455	0.04901	T	-0.370433	0.03571	T	-0.642099	0.09517	T	0.108418336805749	0.13259	T	0.523848	0.17156	T	0.16666512	0.37016	0.30275315	0.56307	0.16666512	0.37016	0.30275315	0.56306	-3.562	0.17310	T	.	.	0.070	0.03301	B	.	.	1.364968	0.17746	13.34	0.96746354837063731	0.30943	0.33034	0.24730	N	AEFDBI	0.139019	0.26049	N	-0.688415744026477	0.16350	0.8322652	-0.606670786503067	0.19320	1.036093	0.99999999876262	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	3.52	3.52	0.39415	0.435000	0.21228	1.372000	0.25964	0.599000	0.40250	0.209000	0.24412	0.676000	0.26094	0.118000	0.19084	0.0:1.0:0.0:0.0	15.015	0.71236	701	0.57775	Domain of unknown function DUF4200	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	777.98	43	chr12	113152000	.	C	G	777.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.659;DP=848;ExcessHet=0.0000;FS=2.090;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=-1.398e+00;SOR=1.037	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,109,1230	20	0	1	0
chr12	113169824	113169824	G	A	exonic	DDX54	.	nonsynonymous SNV	DDX54:NM_001111322:exon12:c.C1360T:p.H454Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.97	D	0.729	P	0.000	D	1.000	D	1.565	L	2.87	T	-1.189	T	0.054	T	0.764	4.337	22.8	5.24	2.455	7.951	18.427	0.217	0.010577357473	.	.	1.665e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs777223531	2.736e-06	2.736e-06	1.361e-06	4.125e-06	4.637e-05	6.4e-07	4.3e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	0	0	4.637e-05	6.572e-06	6.566e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.418e-05	0	0	0	0	0.002	0.72154	D	0.006	0.70582	D	0.97	0.56973	D	0.729	0.55225	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.295	0.32453	L	2.87	0.10386	T	-5.29	0.84315	D	0.511	0.54234	-1.1891	0.00252	T	0.054	0.22883	T	10	0.42859575	0.57340	T	0.010577	0.27281	T	0.217	0.51112	0.627	0.76254	0.18274738541	0.17906	0.8608281630213958	0.86046	0.455561052651	0.45228	0.729314982891	0.71406	T	0.124876	0.45020	T	-0.0693291	0.41436	T	-0.155835	0.58725	T	0.758163928985596	0.43747	D	0.940673	0.77758	D	0.85741454	0.87889	0.75140464	0.85306	0.85741454	0.87891	0.75140464	0.85307	-8.898	0.67077	D	.	.	0.106	0.27131	B	.;.	.;.	4.154012	0.62332	24.4	0.99767069142255627	0.85583	0.98350	0.81890	D	AEFDBCI	0.898421	0.84170	D	0.558400838919353	0.70596	5.524655	0.573230572267328	0.73025	5.903735	0.999999999937356	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	8.099000	0.89378	7.538000	0.60033	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:0.0:1.0:0.0	18.427	0.90557	719	0.55657	.;Helicase, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1709.98	36	chr12	113169824	.	G	A	1709.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.163e+00;DP=888;ExcessHet=0.0000;FS=1.278;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=-7.170e-01;SOR=0.817	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1311	20	0	1	0
chr12	113174650	113174650	T	C	exonic	DDX54	.	nonsynonymous SNV	DDX54:NM_001111322:exon10:c.A1058G:p.Y353C	.	.	421	1076	23	2	0	27	0.012391	.	.	3214305	DDX54-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.721	P	0.509	P	0.000	D	1.000	D	2.385	M	2.75	T	-1.144	T	0.035	T	0.651	3.113	16.40	2.89	0.860	5.010	10.174	0.168	.	0.0055	0.00459265	0.0081	0.0017	0.0030	0	0.0033	0.0079	0.0104	0.0229	0.0075937	1174	154602	rs147338699	0.0081	0.0081	0.0077	0.0085	0.0216	0.0080	0.0079	0.0207	0.0204	0.0010	0.0027	0.0007	0	0.0031	0.0153	0.0082	0.0069	0.0216	0.0060	0.0060	0.0059	0.0060	0.0195	0.0056	0.0055	0.0163	0.0151	0.0013	0.0066	0.0048	0.0006	0.0002	0.0024	0.0136	0.0093	0.0061	0.0195	0.001	0.78490	D	0.002	0.79402	D	0.721	0.42361	P	0.509	0.47904	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.61	0.76335	M	2.75	0.11622	T	-7.56	0.95216	D	0.634	0.64733	-1.1441	0.01212	T	0.035	0.15074	T	10	0.012401342	0.00267	T	.	.	.	0.168	0.42943	.	.	0.289847578895	0.28608	0.80917870018676	0.80872	1.15342620932	0.79294	0.77030390501	0.77471	T	0.649898	0.89363	D	-0.340216	0.05373	T	-0.244553	0.50352	T	0.0771233992701485	0.09615	T	0.970903	0.89805	D	0.7732722	0.82244	0.6463017	0.79319	0.7732722	0.82245	0.6463017	0.79320	-10.993	0.79702	D	.	.	0.483	0.63806	A	.;.	.;.	3.787968	0.54506	23.5	0.99774537716718648	0.86174	0.84068	0.43153	D	ALL	0.693729	0.65297	D	0.204167983758401	0.51401	3.321623	0.184206757599351	0.48982	3.107004	0.999999569695521	0.74766	0.77792	0.99625	0	0.67197	0.64623	0	0.854111	0.99894	0	0.636	0.56748	0	.	.	5.44	2.89	0.32713	4.982000	0.63547	3.999000	0.41057	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.574000	0.30748	0.2649:0.0:0.0:0.7351	10.174	0.42103	724	0.55085	.;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	875.98	34	chr12	113174650	.	T	C	875.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.226e+00;DP=747;ExcessHet=0.0000;FS=1.282;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.18;ReadPosRankSum=0.552;SOR=0.425	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr12	113179237	113179237	C	T	exonic	DDX54	.	nonsynonymous SNV	DDX54:NM_001111322:exon4:c.G470A:p.R157Q	.	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.945	P	0.531	P	0.001	D	0.866	D	1.21	L	2.46	T	-1.104	T	0.040	T	0.277	4.840	27.5	4.48	2.573	2.143	6.715	0.079	0.013332900515	7.7e-05	.	0.0002	0	0	0	0	0.0001	0	0.0008	0.0001488	23	154602	rs201119519	0.0001	0.0001	0.0001	0.0002	0.0008	0.0001	0.0001	0.0006	0.0006	2.987e-05	0	0.0002	0	0	0.0003	9.442e-05	0.0003	0.0008	7.224e-05	7.218e-05	8.996e-05	5.372e-05	0.0002	3.969e-05	3.126e-05	5.842e-05	4.24e-05	4.813e-05	0	0	0	0	0	0	0.0001	0	0.0002	0.006	0.61437	D	0.008	0.67890	D	0.932	0.53279	P	0.497	0.48577	P	0.000516	0.43753	D	0.186306	0.865691	0.35469	D	1.035	0.25616	L	2.46	0.14907	T	-1.91	0.45949	N	0.604	0.62526	-1.1044	0.03598	T	0.040	0.17191	T	10	0.11992431	0.22704	T	0.013333	0.32649	T	0.079	0.23065	.	.	0.173771789658	0.16945	0.6559562905162769	0.65531	0.901772325919	0.70668	0.403161048889	0.25509	T	0.014498	0.16426	T	-0.439286	0.01306	T	-0.504617	0.21870	T	0.0996554305472649	0.12319	T	0.989612	0.96575	D	0.12552175	0.29423	0.1159614	0.27995	0.12552175	0.29423	0.1159614	0.27994	-12.82	0.88616	D	.	.	0.091	0.25166	B	.;.;.	.;.;.	4.882618	0.80089	27.2	0.99924769336040908	0.98980	0.80034	0.39782	D	AEFDBCI	0.185634	0.31295	N	0.350047172582753	0.58741	4.04841	0.400612226892433	0.61604	4.362748	0.999958225209816	0.48110	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.48	4.48	0.53973	2.175000	0.42119	2.140000	0.30838	0.599000	0.40250	1.000000	0.71638	0.984000	0.30665	0.965000	0.52897	0.0:0.7308:0.0:0.2692	6.715	0.22486	724	0.55085	.;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1279.98	36	chr12	113179237	.	C	T	1279.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.73;DP=802;ExcessHet=0.0000;FS=6.281;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.80;ReadPosRankSum=0.071;SOR=0.245	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1394	20	0	1	0
chr12	113186882	113186882	C	T	exonic	RITA1	.	nonsynonymous SNV	RITA1:NM_001286215:exon2:c.C208T:p.R70W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.966	D	0.000	D	1.000	N	2.215	M	1.17	T	-0.891	T	0.192	T	0.429	1.978	12.57	2.99	0.594	0.372	11.487	0.108	0.0217566792094	.	.	1.699e-05	0	0	0	0	3.078e-05	0	0	1.29e-05	2	154602	rs767044077	2.258e-05	2.326e-05	1.77e-05	2.75e-05	2.788e-05	1.61e-05	1.416e-05	1.998e-05	1.74e-05	0	0	0	2.519e-05	0	0	2.788e-05	1.656e-05	0	3.285e-05	3.283e-05	3.854e-05	2.69e-05	7.349e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.966	0.71341	D	0.000090	0.51296	D	0.000000	1	0.08975	N	2.425	0.70256	M	1.17	0.38397	T	-4.83	0.80943	D	0.462	0.51494	-0.8908	0.48864	T	0.192	0.54433	T	10	0.3685466	0.53293	T	0.021757	0.44572	T	0.108	0.30607	0.352	0.35084	0.322510055762	0.31862	0.26382951316115666	0.26295	0.789902996822	0.65725	.	.	.	0.045825	0.27239	T	-0.123275	0.32591	T	-0.351206	0.39067	T	0.979924082756042	0.73085	D	0.79622	0.43953	T	0.52898175	0.68773	0.3312542	0.58986	0.52898175	0.68774	0.3312542	0.58986	-5.883	0.45290	T	.	.	0.136	0.30318	B	.;.;.	.;.;.	2.898851	0.38415	20.7	0.9984056754964844	0.92143	0.18242	0.20179	N	AEFDBCI	0.252572	0.37223	N	-0.0763297688726808	0.38432	2.250885	-0.309356282891595	0.27795	1.544924	0.99998989033867	0.51787	0.722319	0.85440	0	0.685571	0.66316	0	0.662677	0.59975	0	0.735409	0.98432	0	.	.	4.86	2.99	0.33673	0.462000	0.21667	1.794000	0.28824	0.599000	0.40250	0.111000	0.23011	0.978000	0.30204	0.100000	0.18284	0.3169:0.6831:0.0:0.0	11.487	0.49609	723	0.55174	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1485.98	109	chr12	113186882	.	C	T	1485.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.90;DP=789;ExcessHet=0.0000;FS=1.534;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=-4.400e-01;SOR=0.892	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1068	20	0	1	0
chr12	113191494	113191494	G	A	exonic	RITA1	.	nonsynonymous SNV	RITA1:NM_001286215:exon3:c.G559A:p.A187T	.	.	434	1083	5	0	0	5	0.00230309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.979	D	0.846	P	0.016	N	1.000	N	2.005	M	0.97	T	-0.964	T	0.166	T	0.465	0.739	7.921	2.75	0.542	1.469	5.516	0.214	0.0265300442722	.	.	8.488e-06	0	0	0	0	1.538e-05	0	0	6.5e-06	1	154602	rs764582812	2.545e-05	2.531e-05	2.595e-05	2.495e-05	0.0030	1.878e-05	1.64e-05	0.0019	0.0015	2.998e-05	0	0	0	0	0.0030	1.266e-05	6.677e-05	1.164e-05	3.283e-05	3.281e-05	3.855e-05	2.685e-05	2.941e-05	1.26e-05	7.97e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0.0102	2.941e-05	0	0	0.006	0.61437	D	0.089	0.42794	T	0.979	0.59044	D	0.846	0.60472	P	0.016408	0.27986	N	0.232809	1	0.08975	N	1.59	0.40313	L	0.97	0.42502	T	-2.19	0.49352	N	0.19	0.21056	-0.9639	0.38428	T	0.166	0.50437	T	10	0.12776682	0.24301	T	0.02653	0.49429	D	0.214	0.50650	.	.	0.245101548738	0.24120	0.22770927407286304	0.22685	0.480448835524	0.47059	.	.	.	0.023468	0.17908	T	-0.173741	0.24670	T	-0.379686	0.35759	T	0.334141045808792	0.26390	T	0.679032	0.28770	T	0.10441773	0.24684	0.123187274	0.29707	0.10441773	0.24684	0.123187274	0.29706	-3.56	0.18161	T	.	.	0.197	0.42141	B	.;.;.	.;.;.	2.041188	0.25943	16.94	0.97021889785612392	0.32030	0.20987	0.21241	N	AEFBCI	0.099757	0.20073	N	-0.264898775450346	0.30513	1.70209	-0.464634568371814	0.23134	1.260098	0.99992670150237	0.46280	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.6	2.75	0.31439	2.603000	0.45930	5.171000	0.47828	0.676000	0.76740	0.165000	0.23867	1.000000	0.68203	0.163000	0.20749	0.1015:0.0:0.7024:0.1961	5.516	0.16193	728	0.54609	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1273.98	34	chr12	113191494	.	G	A	1273.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.796;DP=802;ExcessHet=0.0000;FS=0.744;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=0.596;SOR=0.799	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1117	20	0	1	0
chr12	113272679	113272687	ACCCTTCAG	-	exonic	TPCN1	.	nonframeshift deletion	TPCN1:NM_001301214:exon7:c.566_574del:p.S191_P193del	.	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	.	0.0010	0.0002	0.0004	0	0	0.0012	0.0055	0.0013	0.0001153	3	26028	rs777710312	0.0010	0.0011	0.0010	0.0011	0.0014	0.0010	0.0010	0.0011	0.0011	0.0004	0.0003	0.0002	0	9.36e-05	0.0014	0.0012	0.0011	0.0012	0.0008	0.0008	0.0008	0.0008	0.0023	0.0007	0.0006	0.0013	0.0010	0.0002	0.0011	0.0004	0.0003	0	0	0	0.0014	0.0009	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4699.94	35	chr12	113272678	.	AACCCTTCAG	A	4699.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=999;ExcessHet=0.0000;FS=0.417;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.11;ReadPosRankSum=-1.542e+00;SOR=0.658	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1266	20	0	1	0
chr12	113316609	113316609	T	G	exonic	SLC8B1	.	nonsynonymous SNV	SLC8B1:NM_001330466:exon9:c.A742C:p.I248L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.005	B	0.007	B	0.000	N	1.000	D	1.21	L	0.24	T	-1.065	T	0.113	T	0.242	2.074	12.89	1.69	0.054	3.708	5.090	0.074	0.00657327479783	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1445842694	4.789e-06	4.788e-06	6.806e-06	2.75e-06	2.987e-05	1.99e-06	1.28e-06	1.94e-06	1.28e-06	2.987e-05	0	0	0	0	0	5.396e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.291	0.22962	T	0.005	0.12996	B	0.007	0.12992	B	0.000019	0.62929	N	0.066734	0.99865	0.45228	D	.	.	.	0.24	0.59983	T	-0.97	0.25770	N	0.423	0.46274	-1.0650	0.10549	T	0.113	0.40354	T	10	0.19314393	0.35071	T	0.006573	0.17329	T	0.074	0.21613	0.438	0.49157	0.411932830014	0.40813	0.5033704193717913	0.50259	0.137060093867	0.15456	0.530982911587	0.43173	T	0.189336	0.54353	T	-0.0815845	0.39455	T	-0.354967	0.38635	T	0.292324161446963	0.24686	T	0.59614	0.22965	T	0.07784647	0.17692	0.064398415	0.12902	0.07784647	0.17692	0.064398415	0.12902	-6.763	0.56110	T	.	.	0.115	0.36012	B	.;.;.	.;.;.	2.867425	0.37909	20.6	0.96769369989136222	0.31031	0.86557	0.45862	D	AEFDBCI	0.441784	0.49978	N	-0.483639936930551	0.22617	1.208904	-0.384159948536053	0.25468	1.400804	0.582061260563644	0.21579	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.15	1.69	0.23290	3.670000	0.54305	1.520000	0.27085	0.607000	0.46521	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.0:0.1686:0.1544:0.677	5.090	0.14035	826	0.39940	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3384.08	33	chr12	113316609	.	T	G	3384.08	.	AC=2;AF=0.048;AN=42;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.05;SOR=0.912	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,114,1342	20	1	0	0
chr12	113384225	113384225	G	A	exonic	PLBD2	.	nonsynonymous SNV	PLBD2:NM_001159727:exon7:c.G1078A:p.A360T	.	.	428	1086	7	1	0	9	0.00412655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.141	B	0.137	B	0.185	N	0.999	N	2.045	M	2.3	T	-1.040	T	0.034	T	0.13	1.309	10.29	4.05	2.306	0.575	10.448	0.109	.	0.0022	0.00399361	0.0021	0.0044	0.0011	0	0	0.0009	0.0011	0.0083	0.0019987	309	154602	rs111420851	0.0012	0.0012	0.0009	0.0014	0.0082	0.0011	0.0011	0.0075	0.0073	0.0046	0.0022	0.0041	0	1.876e-05	0.0082	0.0004	0.0022	0.0080	0.0022	0.0022	0.0022	0.0022	0.0104	0.0020	0.0019	0.0081	0.0073	0.0042	0	0.0030	0.0023	0	0	0.0102	0.0006	0.0038	0.0104	0.573	0.06243	T	0.57	0.08870	T	0.007	0.14184	B	0.017	0.18140	B	0.185461	0.16989	N	0.609875	0.999079	0.21650	N	2.32	0.66415	M	2.3	0.16953	T	-0.57	0.17210	N	0.318	0.35832	-1.0402	0.17253	T	0.034	0.14509	T	10	0.005242914	0.00114	T	.	.	.	0.109	0.30843	.	.	0.273938319068	0.27005	0.5491429830809346	0.54840	0.350837448233	0.36927	0.282282829285	0.07813	T	0.005536	0.04992	T	-0.598101	0.00150	T	-0.626216	0.10703	T	0.0194231902395062	0.00647	T	0.855714	0.62120	D	0.044593014	0.07156	0.05721434	0.10359	0.044593014	0.07156	0.05721434	0.10359	-4.375	0.33730	T	.	.	0.076	0.05935	B	.;.	.;.	2.269451	0.29007	17.98	0.96606876652216367	0.30427	0.21451	0.21406	N	AEFDGBHCI	0.158383	0.28403	N	-0.372899479999118	0.26438	1.442919	-0.293409134501976	0.28316	1.577882	0.213493271327065	0.18268	0.743674	0.98306	0	0.724815	0.89359	0	0.630245	0.45026	0	0.714379	0.83352	0	.	.	4.98	4.05	0.46415	0.600000	0.23803	4.345000	0.43069	0.618000	0.50648	0.007000	0.17678	1.000000	0.68203	0.986000	0.61781	0.0:0.2636:0.5991:0.1373	10.448	0.43691	873	0.30802	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1880.98	40	chr12	113384225	.	G	A	1880.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.350e+00;DP=921;ExcessHet=0.0000;FS=2.224;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=0.435;SOR=0.486	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	20	0	1	0
chr12	113384886	113384886	C	T	exonic	PLBD2	.	nonsynonymous SNV	PLBD2:NM_173542:exon8:c.C1154T:p.A385V,	.	.	.	.	.	.	.	.	.	.	.	3470847	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.26	T	0.958	D	0.265	B	0.071	N	1.000	N	1.69	L	2.21	T	-1.037	T	0.034	T	0.152	0.921	8.750	4.08	1.094	1.154	7.985	0.077	0.0136871734998	7.7e-05	.	3.406e-05	0	0	0	0	6.185e-05	0	0	3.23e-05	5	154602	rs368832479	1.876e-05	1.847e-05	1.521e-05	2.234e-05	2.632e-05	1.285e-05	1.101e-05	1.479e-05	1.243e-05	0	0	0	2.632e-05	0	0	2.186e-05	1.698e-05	1.162e-05	2.661e-05	2.648e-05	3.904e-05	1.361e-05	6.611e-05	8.22e-06	5.19e-06	1.179e-05	6.27e-06	0	0	6.611e-05	0	0	0	0	4.441e-05	0	0	0.229	0.18371	T	0.244	0.24123	T	0.958	0.54977	D	0.265	0.39681	B	0.070614	0.21528	N	0.516966	1	0.08975	N	2.56	0.74772	M	2.21	0.18414	T	-1.36	0.33798	N	0.336	0.37717	-1.0367	0.18326	T	0.034	0.14552	T	10	0.3458894	0.51554	T	0.013687	0.33283	T	0.077	0.22490	.	.	0.389904358541	0.38601	0.7666111244124003	0.76610	0.677698919857	0.59836	0.40225276351	0.25383	T	0.02205	0.17066	T	-0.324969	0.06498	T	-0.574121	0.15074	T	0.280055105686188	0.24174	T	0.739826	0.35853	T	0.023426747	0.01081	0.0485345	0.07229	0.023426747	0.01081	0.0485345	0.07229	-6.268	0.48469	T	.	.	0.085	0.10208	B	.	.	1.987082	0.25245	16.69	0.99206325733102274	0.55442	0.24242	0.22332	N	AEFDBI	0.177812	0.30506	N	-0.181273179661891	0.33915	1.92963	-0.231294561892591	0.30421	1.712708	0.00444168744222961	0.10561	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.97	4.08	0.46880	1.151000	0.31263	0.804000	0.21687	-0.232000	0.07691	0.377000	0.25981	0.231000	0.23784	0.309000	0.24713	0.1581:0.7601:0.0:0.0818	7.985	0.29371	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	650.98	51	chr12	113384886	.	C	T	650.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.608;DP=736;ExcessHet=0.0000;FS=3.917;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.76;ReadPosRankSum=-1.954e+00;SOR=1.009	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1007	20	0	1	0
chr12	113437955	113437955	G	A	exonic	SDSL	.	nonsynonymous SNV	SDSL:NM_001304993:exon8:c.G866A:p.R289Q	.	.	424	1081	17	0	0	17	0.00780174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.005	B	0.007	B	0.671	N	1.000	N	-0.74	N	-4.04	D	-0.295	T	0.517	D	0.202	-0.164	3.198	2.47	0.406	1.675	6.772	0.019	0.0405583458403	0.0012	0.00179712	0.0015	0.0005	0.0019	0	0	0.0015	0.0044	0.0028	0.0013325	206	154602	rs150420059	0.0013	0.0013	0.0012	0.0014	0.0158	0.0012	0.0012	0.0132	0.0122	0.0006	0.0018	0.0023	0	1.873e-05	0.0158	0.0011	0.0019	0.0030	0.0010	0.0010	0.0009	0.0011	0.0029	0.0008	0.0008	0.0018	0.0014	0.0004	0	0.0020	0.0014	0.0002	9.411e-05	0.0136	0.0011	0.0009	0.0029	0.666	0.04616	T	0.702	0.05685	T	0.005	0.12996	B	0.007	0.12992	B	0.671458	0.10338	N	0.849423	1	0.08975	N	0.155	0.08919	N	-4.04	0.96465	D	0.85	0.01736	N	0.081	0.06990	-0.2955	0.75110	T	0.517	0.81932	D	10	0.00942567	0.00213	T	0.040558	0.59442	D	0.215	0.50805	.	.	0.55744451731	0.55404	0.0986820761971718	0.09799	0.0672925529971	0.07525	0.333418637514	0.15450	T	0.260463	0.63184	T	-0.300766	0.08588	T	-0.209421	0.53750	T	0.00986654380024775	0.00130	T	0.20398	0.02363	T	0.3189343	0.54549	0.106271446	0.25563	0.3189343	0.54549	0.106271446	0.25562	-3.052	0.10752	T	.	.	0.077	0.06525	B	.;.	.;.	1.580415	0.20222	14.65	0.52425646364151079	0.04746	0.10413	0.15927	N	AEFDBI	0.365027	0.45335	N	-0.758843049121502	0.14394	0.7166622	-0.604257714065942	0.19383	1.039714	1.87903979468907E-4	0.05844	0.638212	0.43195	0	0.588066	0.40923	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	4.31	2.47	0.29113	1.371000	0.33855	3.962000	0.40756	0.672000	0.70159	0.017000	0.19353	0.976000	0.30059	0.025000	0.12405	0.4247:0.0:0.5753:0.0	6.772	0.22783	889	0.27310	Pyridoxal-phosphate dependent enzyme;Pyridoxal-phosphate dependent enzyme	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1562.98	33	chr12	113437955	.	G	A	1562.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.991;DP=833;ExcessHet=0.0000;FS=2.459;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=0.455;SOR=0.954	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1298	20	0	1	0
chr12	113463264	113463264	T	C	exonic	LHX5	.	nonsynonymous SNV	LHX5:NM_022363:exon5:c.A1135G:p.M379V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.028	B	0.014	B	0.000	D	0.971	D	0.405	N	-2.65	D	-0.327	T	0.477	T	0.291	-0.588	1.364	4.08	1.627	0.910	13.372	0.247	0.934971996079	.	.	.	.	.	.	.	.	.	.	.	.	.	rs909786353	1.237e-05	1.163e-05	1.724e-05	7.369e-06	2.943e-05	7.53e-06	6.16e-06	8.39e-06	6.65e-06	0	2.943e-05	0	0	0	0	1.398e-05	1.75e-05	0	6.591e-06	6.572e-06	1.288e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.619	0.05325	T	1.0	0.01155	T	0.028	0.19712	B	0.014	0.16862	B	0.000014	0.62929	D	0.000000	0.970903	0.38832	D	1.39	0.34934	L	-2.65	0.90210	D	-0.72	0.20358	N	0.294	0.33250	-0.3274	0.74209	T	0.477	0.79966	T	10	0.22902635	0.39821	T	0.934972	0.99533	D	0.247	0.55478	0.263	0.20788	0.770803431127	0.76870	0.2341408566955031	0.23329	.	.	0.73280775547	0.71916	T	0.137705	0.47079	T	-0.0165011	0.49352	T	-0.215282	0.53190	T	0.0791358208183285	0.09875	T	0.739826	0.35853	T	0.4026646	0.60917	0.38938934	0.63760	0.4026646	0.60917	0.38938934	0.63759	-3.201	0.12493	T	.	.	0.056	0.00436	B	.	.	1.884028	0.23932	16.21	0.42490790085727553	0.03136	0.85938	0.45131	D	AEFDBCI	0.269925	0.38610	N	-0.426725224573424	0.24535	1.32553	-0.242414097043902	0.30034	1.687586	0.999965382167788	0.48965	0.455138	0.09556	0	0.563428	0.19063	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	4.08	4.08	0.46880	1.253000	0.32488	0.948000	0.22902	0.574000	0.29054	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	13.372	0.60163	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	658.98	64	chr12	113463264	.	T	C	658.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.120e-01;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.30;ReadPosRankSum=-2.240e-01;SOR=0.643	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr12	113945865	113945865	T	G	exonic	RBM19	.	nonsynonymous SNV	RBM19:NM_001146698:exon13:c.A1589C:p.Q530P	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.721	P	0.222	B	0.000	D	1.000	D	1.59	L	3.36	T	-0.999	T	0.018	T	0.684	2.390	13.95	3.47	1.759	4.666	10.986	0.107	0.00475663701404	.	.	1.666e-05	0	8.764e-05	0	0	1.509e-05	0	0	1.29e-05	2	154602	rs753411509	2.295e-05	2.327e-05	2.358e-05	2.232e-05	2.752e-05	1.637e-05	1.44e-05	1.952e-05	1.694e-05	0	2.238e-05	0	0	0	0	2.752e-05	0	2.333e-05	1.314e-05	1.313e-05	1.284e-05	1.344e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.042	0.41637	D	0.112	0.37037	T	0.721	0.42361	P	0.222	0.37884	B	0.000012	0.62929	D	0.113194	0.999923	0.51308	D	2.125	0.59049	M	3.36	0.05918	T	-2.1	0.47852	N	0.417	0.46086	-0.9985	0.30339	T	0.018	0.07282	T	10	0.30773926	0.48275	T	0.004757	0.11879	T	0.107	0.30369	0.493	0.58048	0.294206760003	0.29026	0.7312929241422842	0.73074	0.228153966021	0.25366	0.361224353313	0.19565	T	0.224538	0.58900	T	-0.0915934	0.37814	T	-0.268714	0.47950	T	0.656424701213837	0.38740	D	0.917108	0.70302	D	0.4388278	0.63326	0.49905556	0.71036	0.4388278	0.63327	0.49905556	0.71037	-15.917	0.97634	D	.	.	0.498	0.64490	A	.;.;.	.;.;.	4.032740	0.59644	24.1	0.98995471350437081	0.50024	0.93462	0.58282	D	AEFDBCI	0.750115	0.69133	D	0.144060320127285	0.48530	3.064253	0.178243129150621	0.48656	3.078689	0.942479109983412	0.27524	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.71	3.47	0.38831	4.644000	0.61092	4.052000	0.41516	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	0.0:0.0:0.1563:0.8437	10.986	0.46735	929	0.16858	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1704.98	68	chr12	113945865	.	T	G	1704.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.464e+00;DP=1156;ExcessHet=0.0000;FS=1.361;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=1.54;SOR=0.696	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr12	113959392	113959392	T	C	exonic	RBM19	.	nonsynonymous SNV	RBM19:NM_001146698:exon5:c.A391G:p.T131A	.	.	428	1092	2	0	0	2	0.000914913	.	.	2369491	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.78	T	0.0	B	0.0	B	0.986	N	1.000	N	-0.55	N	3.53	T	-0.909	T	0.008	T	0.042	0.733	7.895	-3.19	-0.511	-0.457	14.165	0.025	0.00409407943108	0.0002	.	5.811e-05	0	0	0	0	9.035e-05	0.0011	0	4.53e-05	7	154602	rs139578414	5.927e-05	5.951e-05	5.328e-05	6.536e-05	0.0084	4.912e-05	4.53e-05	0.0065	0.0058	9.006e-05	8.983e-05	0	0	0	0.0084	2.086e-05	0.0001	1.162e-05	7.88e-05	7.874e-05	6.424e-05	9.401e-05	0.0001	4.494e-05	3.51e-05	2.258e-05	9.06e-06	0	0	0.0001	0	0	0	0.0204	4.41e-05	0.0005	0	0.222	0.18823	T	0.206	0.27056	T	0.0	0.02946	B	0.0	0.01387	B	0.986405	0.07874	N	1.005240	1	0.08975	N	-0.55	0.02420	N	3.53	0.04852	T	-0.04	0.07590	N	0.068	0.04188	-0.9092	0.46952	T	0.008	0.02679	T	10	0.024562985	0.00680	T	0.004094	0.09775	T	0.025	0.05312	.	.	0.128392430309	0.12331	0.051847504081252625	0.05126	0.121530796885	0.13691	0.215340748429	0.01058	T	0.059941	0.31251	T	-0.54856	0.00298	T	-0.800043	0.01902	T	0.0173827549559169	0.00476	T	0.485951	0.14839	T	0.027028343	0.01838	0.03817388	0.03628	0.027028343	0.01838	0.03817388	0.03628	-3.862	0.21734	T	.	.	0.059	0.00780	B	.;.;.	.;.;.	0.734202	0.11034	7.690	0.82179752946711027	0.14059	0.11894	0.16929	N	AEFBCI	0.041212	0.06235	N	-1.30824525685612	0.03580	0.1601763	-1.26998309840677	0.04842	0.2293657	0.00877152862364144	0.11738	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.27	-3.19	0.04853	-0.445000	0.06918	-1.122000	0.06265	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.750000	0.35786	0.0:0.6455:0.0:0.3545	14.165	0.65008	946	0.12043	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	912.98	34	chr12	113959392	.	T	C	912.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.77;DP=783;ExcessHet=0.0000;FS=4.276;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=-9.550e-01;SOR=1.248	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1092	20	0	1	0
chr12	115983465	115983465	G	A	exonic	MED13L	.	nonsynonymous SNV	MED13L:NM_015335:exon21:c.C4607T:p.A1536V,	Mental retardation and distinctive facial features with or without cardiac defects, Autosomal dominant;Transposition of the great arteries, dextro-looped 1, Autosomal dominant	YES	0	1518	4	0	0	4	0.00131579	.	.	1224083	not_provided|MED13L-related_disorder|Transposition_of_the_great_arteries,_dextro-looped	MedGen:C3661900|.|MONDO:MONDO:0012128,MedGen:C1837341,OMIM:608808,Orphanet:860	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.3	T	0.001	B	0.002	B	0.173	N	0.504	D	0	N	-0.85	T	-0.794	T	0.180	T	0.306	3.121	16.43	6.17	2.941	3.472	9.708	0.185	.	.	0.00339457	0.0023	0	8.645e-05	0	0	0	0.0033	0.0164	0.0019081	295	154602	rs527644823	0.0010	0.0010	0.0005	0.0016	0.0167	0.0010	0.0010	0.0160	0.0157	0	4.472e-05	0	2.519e-05	0	0.0005	7.194e-06	0.0012	0.0167	0.0005	0.0005	0.0003	0.0008	0.0170	0.0004	0.0004	0.0140	0.0129	2.405e-05	0	0	0	0	0	0	0	0	0.0170	0.068	0.35726	T	0.015	0.61642	D	0.001	0.07471	B	0.002	0.06944	B	0.172643	0.17330	N	0.613480	0.503785	0.31763	D	0.805	0.20218	L	-0.85	0.74371	T	-0.85	0.23156	N	0.132	0.12770	-0.7940	0.55496	T	0.180	0.52705	T	10	0.005584836	0.00123	T	.	.	.	0.185	0.45933	.	.	0.382275360157	0.37844	0.38259039107341714	0.38174	0.603781052324	0.55342	0.391021996737	0.23813	T	0.026108	0.19387	T	-0.367278	0.03734	T	-0.287372	0.46044	T	0.031336040538738	0.02199	T	0.760924	0.38541	T	0.05048582	0.09128	0.057174284	0.10345	0.050798588	0.09234	0.050281417	0.07861	-4.555	0.31601	T	0.2609314874784989	0.35231	0.084	0.10497	B	.;.	.;.	3.505792	0.49069	22.7	0.99616564354639137	0.75172	0.92069	0.54876	D	AEFDGBHCI	0.400146	0.47514	N	-0.132378741849924	0.35988	2.074192	0.118926005310028	0.45518	2.813488	0.999999765363425	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.697927	0.64325	0	0.733575	0.97253	0	.	.	6.17	6.17	0.99707	2.545000	0.45429	8.516000	0.77406	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0749:0.1829:0.7422:0.0	9.708	0.39395	980	0.04108	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1377.98	35	chr12	115983465	.	G	A	1377.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.177e+00;DP=835;ExcessHet=0.0000;FS=3.127;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.13;ReadPosRankSum=-1.401e+00;SOR=1.023	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1131	20	0	1	0
chr12	115991196	115991196	G	A	exonic	MED13L	.	nonsynonymous SNV	MED13L:NM_015335:exon17:c.C3758T:p.T1253I,	Mental retardation and distinctive facial features with or without cardiac defects, Autosomal dominant;Transposition of the great arteries, dextro-looped 1, Autosomal dominant	.	0	1515	6	1	0	8	0.00263331	.	.	684296	Transposition_of_the_great_arteries,_dextro-looped|MED13L-related_disorder|not_provided	MONDO:MONDO:0012128,MedGen:C1837341,OMIM:608808,Orphanet:860|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.037	B	0.015	B	0.007	N	0.997	D	1.245	L	-0.84	T	-0.666	T	0.311	T	0.319	3.169	16.60	5.57	2.784	6.923	19.915	0.146	0.00612592146233	0.0004	0.000798722	0.0010	0	0.0006	0	0.0003	0.0010	0	0.0025	0.0008926	138	154602	rs148416895	0.0007	0.0007	0.0006	0.0008	0.0027	0.0006	0.0006	0.0024	0.0023	8.961e-05	0.0005	0.0080	0	1.872e-05	0.0026	0.0004	0.0014	0.0027	0.0006	0.0006	0.0006	0.0005	0.0025	0.0005	0.0004	0.0014	0.0011	0	0	0.0006	0.0078	0	0	0	0.0005	0.0005	0.0025	0.106	0.29688	T	0.158	0.31629	T	0.037	0.20876	B	0.015	0.17295	B	0.007259	0.31508	N	0.394228	0.997324	0.43798	D	0.755	0.19153	N	-0.84	0.74265	T	-1.32	0.32991	N	0.393	0.43417	-0.6662	0.62000	T	0.311	0.68175	T	10	0.007294178	0.00166	T	0.006126	0.16023	T	0.146	0.38789	.	.	0.228066490088	0.22430	0.23372975000366997	0.23287	0.651573886625	0.58386	0.488649129868	0.37250	T	0.044292	0.26771	T	-0.352281	0.04585	T	-0.282795	0.46517	T	0.0331141835950786	0.02490	T	0.89601	0.63722	D	0.049798757	0.08899	0.076509774	0.16951	0.0480852	0.08323	0.07949073	0.17898	-3.917	0.22557	T	0.1592602246679176	0.19352	0.106	0.19679	B	.;.	.;.	2.873096	0.37996	20.6	0.99432254145064325	0.64325	0.99106	0.91314	D	AEFBI	0.673394	0.63947	D	0.0772604476774236	0.45404	2.79746	0.251104425330985	0.52711	3.444226	0.999999999999976	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.356000	0.65817	7.450000	0.58952	0.618000	0.50648	0.915000	0.31815	0.999000	0.35428	0.997000	0.79791	0.0:0.0:1.0:0.0	19.915	0.97058	968	0.07033	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2473.98	33	chr12	115991196	.	G	A	2473.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.76;DP=925;ExcessHet=0.0000;FS=9.865;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=-3.550e-01;SOR=1.030	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr12	115991619	115991619	G	A	exonic	MED13L	.	nonsynonymous SNV	MED13L:NM_015335:exon17:c.C3335T:p.T1112I,	Mental retardation and distinctive facial features with or without cardiac defects, Autosomal dominant;Transposition of the great arteries, dextro-looped 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.053	B	0.028	B	0.000	D	0.996	D	1.15	L	-0.8	T	-0.592	T	0.305	T	0.328	2.325	13.73	5.16	2.682	3.292	18.845	0.188	0.0139454942861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.28646	T	0.057	0.46406	T	0.053	0.22573	B	0.028	0.21332	B	0.000404	0.44736	D	0.260950	0.995954	0.42940	D	1.185	0.30054	L	-0.8	0.73845	T	-2.76	0.58569	D	0.262	0.29659	-0.5923	0.65128	T	0.305	0.67575	T	10	0.3013549	0.47678	T	0.013945	0.33715	T	0.188	0.46444	0.36	0.36385	0.151262610727	0.14761	0.6678793898649538	0.66725	0.651573886625	0.58386	0.754630088806	0.75131	T	0.285892	0.65868	T	-0.0301717	0.47393	T	-0.281116	0.46691	T	0.769032835960388	0.44381	D	0.872113	0.57861	D	0.21693659	0.44164	0.19905916	0.43769	0.21693659	0.44164	0.19905916	0.43768	-8.73	0.65942	D	0.20106096019107508	0.26703	0.237	0.53526	B	.;.	.;.	3.538106	0.49673	22.8	0.99412206493340194	0.63358	0.90741	0.52173	D	AEFBI	0.220783	0.34549	N	0.0271505539363669	0.43093	2.608994	0.201344576055642	0.49923	3.189822	0.999848957908223	0.43971	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.16	5.16	0.70563	2.297000	0.43254	11.805000	0.96765	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.845	0.92171	965	0.07246	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1871.98	33	chr12	115991619	.	G	A	1871.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.11;DP=828;ExcessHet=0.0000;FS=2.271;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.98;ReadPosRankSum=-1.374e+00;SOR=0.927	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr12	117046812	117046812	T	C	exonic	TESC	.	nonsynonymous SNV	TESC:NM_001168325:exon4:c.A295G:p.S99G	.	.	.	.	.	.	.	.	.	.	.	2756648	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.51	T	0.0	B	0.001	B	0.001	D	0.970	D	-1.52	N	0.11	T	-1.026	T	0.051	T	0.318	2.027	12.73	4.68	1.969	3.572	10.159	0.095	0.0107267023642	.	.	0.0001	0	0	0	0	0	0	0.0004	3.23e-05	5	154602	rs531621385	3.521e-05	3.625e-05	2.508e-05	4.558e-05	0.0004	2.709e-05	2.445e-05	0.0003	0.0002	0	2.631e-05	0	0	0	0	1.468e-05	6.792e-05	0.0004	3.949e-05	3.943e-05	3.86e-05	4.043e-05	0.0004	1.718e-05	1.131e-05	7.299e-05	3.032e-05	2.418e-05	0	0	0	0	0	0	4.412e-05	0	0.0004	0.513	0.07695	T	0.702	0.07059	T	0.0	0.02946	B	0.001	0.04355	B	0.000761	0.41888	D	0.272659	0.970304	0.38789	D	-0.77	0.01674	N	0.11	0.61208	T	-1.49	0.36385	N	0.397	0.47208	-1.0264	0.21625	T	0.051	0.21806	T	10	0.13672906	0.26012	T	0.010727	0.27599	T	0.095	0.27398	0.361	0.36548	0.340432005269	0.33650	0.2970188629846244	0.29614	0.421294858915	0.42638	0.563868820667	0.47813	T	0.08636	0.37707	T	-0.311298	0.07634	T	-0.348675	0.39356	T	0.0997790461446925	0.12333	T	0.790321	0.43084	T	0.08139475	0.18699	0.067562886	0.13994	0.08139475	0.18698	0.067562886	0.13994	-2.108	0.03618	T	.	.	0.067	0.02548	B	.;.	.;.	2.999023	0.40067	21.1	0.98225779255193157	0.39343	0.82495	0.41714	D	AEFDBCI	0.817546	0.73900	D	-0.489124263234231	0.22437	1.198025	-0.207948501335024	0.31248	1.766754	0.999999866676421	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.68	4.68	0.58319	3.153000	0.50383	6.088000	0.53416	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.1494:0.0:0.0:0.8506	10.159	0.42017	966	0.07191	EF-Hand 1, calcium-binding site|EF-hand domain|EF-hand domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	766.98	81	chr12	117046812	.	T	C	766.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=800;ExcessHet=0.0000;FS=6.199;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.47;ReadPosRankSum=-1.680e-01;SOR=1.439	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1147	20	0	1	0
chr12	117539745	117539745	C	T	exonic	KSR2	.	nonsynonymous SNV	KSR2:NM_173598:exon10:c.G1661A:p.R554Q,	.	.	427	1065	29	1	0	31	0.0143452	.	.	718017	KSR2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.95	T	0.288	B	0.02	B	0.000	D	1.000	D	0.19	N	-1.15	T	-0.534	T	0.246	T	0.379	3.044	16.16	5.14	2.659	7.590	18.805	0.379	.	0.0091	0.00459265	0.0081	0.0010	0.0068	0.0001	0.0017	0.0105	0.0106	0.0099	0.0076196	1178	154602	rs56214831	0.0084	0.0084	0.0084	0.0084	0.0124	0.0083	0.0082	0.0100	0.0091	0.0012	0.0070	0.0277	7.683e-05	0.0020	0.0124	0.0087	0.0089	0.0092	0.0068	0.0068	0.0071	0.0066	0.0107	0.0065	0.0064	0.0093	0.0088	0.0014	0.0077	0.0107	0.0294	0.0002	0.0013	0.0170	0.0094	0.0057	0.0079	0.566	0.06543	T	0.442	0.13252	T	0.288	0.32258	B	0.02	0.19048	B	0.000024	0.55875	D	0.111526	0.999979	0.53665	D	0.94	0.23649	L	-1.15	0.77964	T	0.37	0.03639	N	0.522	0.56403	-0.5338	0.67397	T	0.246	0.61530	T	10	0.008792639	0.00199	T	.	.	.	0.379	0.69696	.	.	0.667463514677	0.66466	0.3097378868121771	0.30886	1.79226602558	0.91530	0.667781233788	0.62521	T	0.218811	0.58164	T	-0.311289	0.07636	T	-0.209533	0.53740	T	0.0413929799216951	0.03943	T	0.951405	0.81464	D	0.120452665	0.28344	0.1019575	0.24422	0.120452665	0.28344	0.1019575	0.24422	-2.924	0.09386	T	.	.	0.221	0.45124	B	.;.	.;.	3.739757	0.53540	23.4	0.99363970985552119	0.61155	0.99743	0.99133	D	AEFDBI	0.937285	0.93483	D	-0.0874001848480555	0.37944	2.214994	0.135401763960851	0.46374	2.884342	0.999999999610757	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.14	5.14	0.70008	7.905000	0.86479	7.686000	0.65553	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	18.805	0.91998	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1741.98	34	chr12	117539745	.	C	T	1741.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.37;DP=847;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.53;ReadPosRankSum=0.203;SOR=0.699	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1398	20	0	1	0
chr12	117761028	117761028	G	C	exonic	KSR2	.	nonsynonymous SNV	KSR2:NM_173598:exon4:c.C969G:p.D323E,	.	.	433	1051	35	3	0	41	0.0191321	.	.	1590532	not_provided|KSR2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.24	T	0.015	B	0.01	B	0.000	N	0.882	D	1.735	L	0.64	T	-1.102	T	0.065	T	0.216	1.664	11.52	-2.89	-1.082	-2.640	6.890	0.110	.	0.0025	0.0103834	0.0082	0.0002	0.0036	0.0001	0.0002	0.0037	0.0068	0.0414	0.0071927	1112	154602	rs141457085	0.0043	0.0043	0.0032	0.0056	0.0402	0.0043	0.0042	0.0391	0.0386	0.0004	0.0030	0.0071	0.0001	0.0002	0.0236	0.0019	0.0057	0.0402	0.0032	0.0032	0.0029	0.0035	0.0342	0.0030	0.0029	0.0299	0.0283	0.0005	0.0044	0.0041	0.0086	0.0004	0.0003	0.0340	0.0027	0.0057	0.0342	0.383	0.11085	T	0.519	0.10714	T	0.015	0.17086	B	0.01	0.14941	B	0.000015	0.62929	N	0.111914	0.881963	0.35769	D	0.815	0.20815	L	0.64	0.52867	T	-1.16	0.29727	N	0.212	0.23632	-1.1020	0.03857	T	0.065	0.26948	T	10	0.0028678179	0.00046	T	.	.	.	0.110	0.31079	0.289	0.24921	0.390598846067	0.38674	0.3763064201691893	0.37544	0.643779572933	0.57903	0.589513301849	0.51426	T	0.296005	0.66865	T	-0.589331	0.00169	T	-0.590034	0.13662	T	0.00410477713333887	0.00044	T	0.70223	0.31206	T	0.05982418	0.12203	0.0596812	0.11241	0.05982418	0.12202	0.0596812	0.11241	-3.052	0.10752	T	.	.	0.073	0.08705	B	.;.	.;.	-0.802662	0.01101	0.050	0.95443789358171249	0.26955	0.19524	0.20694	N	AEFDBI	0.369826	0.45641	N	-0.958532844071779	0.09502	0.450003	-0.952319441677368	0.10869	0.5502401	0.0015609673761638	0.08639	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.23	-2.89	0.05326	-2.914000	0.00763	-6.349000	0.01424	-0.681000	0.04224	0.000000	0.06391	0.000000	0.08366	0.908000	0.44358	0.4978:0.2198:0.2823:0.0	6.890	0.23403	872	0.31118	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2477.92	34	chr12	117761028	.	G	C	2477.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=2.20;DP=829;ExcessHet=0.6776;FS=0.499;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=0.681;SOR=0.645	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1228	17	0	4	0
chr12	118027967	118027967	A	G	exonic	RFC5	.	nonsynonymous SNV	RFC5:NM_001206801:exon9:c.A799G:p.K267E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.902	P	0.793	P	0.000	D	1.000	D	3.23	M	0.91	T	-0.518	T	0.270	T	0.893	4.905	28.3	5.25	2.200	9.003	14.286	0.426	0.0377701280935	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1418286502	5.504e-06	6.158e-06	4.111e-06	6.908e-06	5.432e-06	2.37e-06	1.71e-06	1.95e-06	1.28e-06	0	0	0	0	0	0	5.432e-06	3.327e-05	0	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.026	0.55759	D	0.763	0.43659	P	0.61	0.51087	P	0.000002	0.62929	D	0.098571	1	0.81001	D	3.53	0.93071	H	0.91	0.44856	T	-2.53	0.54864	D	0.732	0.73375	-0.5177	0.68000	T	0.270	0.64130	T	10	0.80264807	0.79645	D	0.03777	0.57818	D	0.426	0.73372	0.619	0.75347	0.597622584896	0.59442	0.8510696912669029	0.85068	0.776708306032	0.65073	0.727913379669	0.71202	T	0.279593	0.65227	T	0.261056	0.79627	D	0.152698	0.80355	D	0.931297659873962	0.59657	D	0.958204	0.84269	D	0.90402645	0.91745	0.7510635	0.85286	0.90402645	0.91746	0.7510635	0.85287	-13.305	0.91380	D	.	.	0.818	0.78148	P	.;.	.;.	5.147240	0.86196	28.8	0.99866989488545377	0.94457	0.97798	0.77211	D	AEFBCI	0.909885	0.86709	D	0.736230775527691	0.82007	7.657168	0.715491728337761	0.83553	8.052462	0.999996736622781	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	8.977000	0.93019	11.194000	0.88775	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	14.286	0.65794	942	0.12992	Replication factor C, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	919.98	34	chr12	118027967	.	A	G	919.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.807e+00;DP=793;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.20;ReadPosRankSum=0.243;SOR=0.748	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1209	20	0	1	0
chr12	118043202	118043202	C	T	exonic	WSB2	.	nonsynonymous SNV	WSB2:NM_001278557:exon3:c.G409A:p.D137N	.	.	427	1051	42	2	0	46	0.0214153	.	.	2816919	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.36	T	0.001	B	0.002	B	0.000	D	0.991	N	0.205	N	0.25	T	-1.076	T	0.078	T	0.146	1.454	10.80	5.1	2.644	2.268	7.604	0.070	0.00669402305542	0.0033	0.00239617	0.0038	0.0009	0.0018	0	0.0003	0.0055	0.0044	0.0039	0.0038357	593	154602	rs113350351	0.0040	0.0040	0.0039	0.0041	0.0182	0.0039	0.0038	0.0154	0.0143	0.0011	0.0024	0.0014	2.519e-05	0.0004	0.0182	0.0043	0.0044	0.0046	0.0033	0.0033	0.0034	0.0031	0.0050	0.0030	0.0029	0.0045	0.0043	0.0009	0.0175	0.0034	0.0003	0	9.411e-05	0.0408	0.0049	0.0085	0.0050	0.252	0.17296	T	0.491	0.12632	T	0.001	0.07471	B	0.002	0.06944	B	0.000045	0.53742	D	0.119854	1	0.24081	N	0.69	0.16971	N	0.21	0.63240	T	-0.16	0.10480	N	0.232	0.26596	-1.0760	0.08144	T	0.078	0.31103	T	10	0.0037802756	0.00070	T	0.006694	0.17671	T	0.070	0.20419	.	.	0.102598925029	0.09809	0.23975596845584812	0.23889	0.596358103577	0.54880	0.495998084545	0.38270	T	0.003968	0.03383	T	-0.480612	0.00733	T	-0.4615	0.26436	T	0.0266200910504644	0.01491	T	0.881612	0.60121	D	0.04471084	0.07193	0.03739401	0.03382	0.04471084	0.07192	0.03739401	0.03382	-4.579	0.31907	T	.	.	0.078	0.11654	B	.;.;.;.	.;.;.;.	3.233164	0.44098	21.9	0.99325207477311128	0.59546	0.32936	0.24707	N	AEFDBI	0.109280	0.21710	N	-0.299151625837231	0.29182	1.615994	-0.102068000330382	0.35308	2.041103	0.110898214784496	0.16645	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.1	5.1	0.68917	1.885000	0.39312	5.978000	0.52118	0.599000	0.40250	0.018000	0.19461	1.000000	0.68203	0.844000	0.39860	0.0:0.8278:0.0:0.1722	7.604	0.27257	958	0.09170	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4752.11	34	chr12	118043202	.	C	T	4752.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.520e-01;DP=1105;ExcessHet=0.1072;FS=0.375;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=1.000e-03;SOR=0.672	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	19	0	2	0
chr12	118068526	118068528	TCC	-	exonic	VSIG10	.	nonframeshift deletion	VSIG10:NM_019086:exon8:c.1416_1418del:p.E474del,	.	.	0	151	56	5	14	80	0.179348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	16579.07	36	chr12	118068522	.	TTCCTCC	T,TTCC	16579.07	.	AC=6,3;AF=0.143,0.071;AN=42;BaseQRankSum=-4.740e-01;DP=1421;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0101;MLEAC=6,3;MLEAF=0.143,0.071;MQ=60.00;MQRankSum=0.00;QD=22.40;ReadPosRankSum=0.739;SOR=0.686	GT:AD:DP:GQ:PL	0/0:38,0,0:38:99:0,99,1485,99,1485,1485	13	1	4	0
chr12	118073777	118073777	G	C	exonic	VSIG10	.	nonsynonymous SNV	VSIG10:NM_019086:exon5:c.C1141G:p.L381V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.002	B	0.007	B	0.214	N	0.999	N	0.71	N	0.62	T	-1.047	T	0.081	T	0.128	-0.508	1.674	3.77	1.400	0.379	9.506	0.046	0.00361070208814	.	.	8.283e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs756872016	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.519e-05	2.3e-07	9e-08	.	.	0	0	0	2.519e-05	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326	0.13306	T	0.498	0.11263	T	0.002	0.09854	B	0.007	0.12992	B	0.213635	0.16305	N	0.454568	0.998641	0.22015	N	1.055	0.26876	L	0.62	0.53302	T	-0.31	0.12099	N	0.072	0.04547	-1.0467	0.15332	T	0.081	0.31884	T	10	0.07446632	0.11387	T	0.003611	0.08278	T	0.046	0.12618	0.315	0.29096	0.0666544352282	0.05500	0.32334680865778326	0.32247	0.204509772023	0.22873	0.274507880211	0.06738	T	6.21E-4	0.00264	T	-0.296428	0.09001	T	-0.56672	0.15750	T	0.0259780104226031	0.01403	T	0.553945	0.19167	T	0.032027975	0.03150	0.03419619	0.02445	0.032027975	0.03150	0.03419619	0.02445	-6.94	0.53595	T	.	.	0.073	0.04640	B	.	.	1.859259	0.23619	16.09	0.26505483902103422	0.01273	0.11221	0.16489	N	AEFDBI	0.047870	0.08110	N	-0.477263950414019	0.22828	1.221632	-0.337112784109734	0.26910	1.489671	0.00455251154871086	0.10614	0.706548	0.73137	0	0.593476	0.48661	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.65	3.77	0.42499	0.400000	0.20657	5.124000	0.47608	0.675000	0.71128	0.007000	0.17678	1.000000	0.68203	0.987000	0.62547	0.0:0.4896:0.3182:0.1922	9.506	0.38213	962	0.08456	Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	780.98	34	chr12	118073777	.	G	C	780.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.521e+00;DP=774;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=0.905;SOR=0.606	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr12	118136331	118136331	T	A	exonic	PEBP1	.	nonsynonymous SNV	PEBP1:NM_002567:exon1:c.T122A:p.L41Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.001	D	1.000	D	3.965	H	0.66	T	0.204	D	0.442	T	0.782	4.959	28.9	4.75	2.009	5.335	14.415	0.603	0.0837160611628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.575e-06	6.568e-06	0	1.346e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000692	0.42383	D	0.209933	0.999998	0.58761	D	4.41	0.98683	H	0.66	0.52416	T	-5.44	0.85397	D	0.823	0.81857	0.204	0.85969	D	0.442	0.77958	T	10	0.90303564	0.89666	D	0.083716	0.74175	D	0.603	0.84345	0.736	0.86892	0.866932225768	0.86563	0.7847290960723274	0.78423	1.0828414072	0.77184	0.769858717918	0.77403	T	0.90314	0.98116	D	0.182635	0.72284	D	0.0245664	0.71925	D	0.999649405479431	0.98300	D	0.987501	0.95747	D	0.95646113	0.96921	0.9278886	0.96949	0.95646113	0.96921	0.9278886	0.96949	-11.136	0.80398	D	.	.	0.824	0.78442	P	.	.	5.385746	0.90245	31	0.99016216282334002	0.50484	0.94109	0.60139	D	ALL	0.862481	0.78078	D	0.841820630608287	0.88638	9.653934	0.724520798186129	0.84239	8.237426	0.999999999999998	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.75	4.75	0.59954	5.332000	0.65686	7.675000	0.64997	0.584000	0.30380	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:0.0:0.0:1.0	14.415	0.66714	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	927.98	33	chr12	118136331	.	T	A	927.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=770;ExcessHet=0.0000;FS=3.060;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=0.478;SOR=1.068	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr12	119151112	119151112	G	A	exonic	SRRM4	.	nonsynonymous SNV	SRRM4:NM_194286:exon10:c.G1172A:p.R391H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.996	D	0.809	P	0.000	D	0.930	D	1.355	L	1.69	T	-1.042	T	0.086	T	0.378	4.441	23.6	3.81	1.563	2.569	10.686	0.075	0.0165482609243	0.0002	.	0.0008	0	8.648e-05	0	0.0012	0.0012	0.0022	6.058e-05	0.0006339	98	154602	rs200067083	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	2.987e-05	2.236e-05	0	0	0.0008	0	0.0003	0.0004	3.478e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0001	2.407e-05	0	0	0	0	0.0011	0	0.0003	0.0005	0	0.004	0.65419	D	0.199	0.27679	T	0.996	0.68779	D	0.809	0.58564	P	0.000123	0.49741	D	0.134965	0.929941	0.36942	D	1.995	0.54099	M	1.69	0.27032	T	-1.32	0.32991	N	0.228	0.25622	-1.0422	0.16651	T	0.086	0.33326	T	9	0.056542844	0.06356	T	0.016548	0.37860	T	0.075	0.21907	.	.	0.298745278005	0.29478	0.3401821737098668	0.33931	0.680023828954	0.59963	0.389644473791	0.23620	T	0.096869	0.39912	T	-0.37061	0.03563	T	-0.38312	0.35356	T	0.207510016133391	0.20822	T	0.70043	0.31009	T	0.10837073	0.25624	0.13605584	0.32559	0.10837073	0.25623	0.13605584	0.32558	-6.236	0.48213	T	.	.	0.100	0.17275	B	.	.	4.580273	0.72349	25.8	0.99950732588751501	0.99944	0.93329	0.57926	D	AEFBI	0.212902	0.33854	N	0.399055731986361	0.61371	4.337	0.408542257959706	0.62094	4.41943	0.992082496086729	0.32713	0.460665	0.09802	0	0.573888	0.26702	0	0.575934	0.27490	0	0.613276	0.41899	0	.	.	5.73	3.81	0.43020	2.960000	0.48853	3.678000	0.39458	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0716:0.1309:0.7974:0.0	10.686	0.45042	941	0.13089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1520.98	34	chr12	119151112	.	G	A	1520.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.086e+00;DP=835;ExcessHet=0.0000;FS=3.397;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=0.988;SOR=0.452	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1264	20	0	1	0
chr12	119505249	119505249	A	G	exonic	CCDC60	.	nonsynonymous SNV	CCDC60:NM_178499:exon7:c.A829G:p.I277V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	B	0.006	B	0.123	N	1.000	N	1.1	L	1.9	T	-1.015	T	0.034	T	0.064	-0.071	3.655	-5.7	-0.608	0.060	8.686	0.042	0.00392177360159	.	.	1.663e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs762950566	6.844e-07	6.84e-07	0	1.376e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	6.569e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.24	0.17701	T	0.247	0.23914	T	0.005	0.12996	B	0.006	0.12133	B	0.122841	0.18941	N	0.391314	1	0.08975	N	1.78	0.46185	L	1.9	0.23486	T	-0.39	0.13611	N	0.115	0.10340	-1.0147	0.25432	T	0.034	0.14464	T	9	0.020495951	0.00473	T	0.003922	0.09242	T	0.042	0.11227	0.163	0.06730	0.0551355673512	0.04727	0.17574455094625874	0.17493	0.0548582352594	0.06076	0.293211102486	0.09392	T	6.2E-4	0.00264	T	-0.490345	0.00647	T	-0.716421	0.04970	T	0.0528246624910063	0.05989	T	0.550545	0.18982	T	0.042336635	0.06401	0.056132562	0.09975	0.042336635	0.06400	0.056132562	0.09974	-3.378	0.14762	T	.	.	0.062	0.01271	B	.	.	0.376845	0.07489	4.131	0.58556280342409128	0.06020	0.02203	0.06427	N	AEFDBHCI	0.029533	0.02805	N	-1.03327777059433	0.07919	0.3695586	-1.09469321578986	0.07804	0.381068	0.99972737051305	0.42220	0.487112	0.14033	0	0.573888	0.26702	0	0.48864	0.07692	0	0.564101	0.26826	0	.	.	5.07	-5.7	0.02226	-0.044000	0.11977	-0.173000	0.11207	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.841000	0.39698	0.2949:0.1557:0.5494:0.0	8.686	0.33400	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2631.98	40	chr12	119505249	.	A	G	2631.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=949;ExcessHet=0.0000;FS=4.087;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=0.504;SOR=1.002	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1197	20	0	1	0
chr12	119757525	119757525	A	G	exonic	CIT	.	nonsynonymous SNV	CIT:NM_007174:exon21:c.T2426C:p.I809T	Microcephaly 17, primary, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.989	D	0.985	D	0.000	D	1.000	D	0.805	L	-0.27	T	-0.412	T	0.341	T	0.915	4.636	25.4	5.54	2.107	8.708	15.665	0.446	0.0205614352889	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.046	0.49120	D	0.981	0.59675	D	0.966	0.71341	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.04	0.26193	L	-0.39	0.69158	T	-1.77	0.41809	N	0.876	0.87373	-0.4120	0.71646	T	0.341	0.70648	T	10	0.58350486	0.65980	D	0.020561	0.43179	T	0.446	0.74797	0.211	0.12923	0.926322381863	0.92557	0.42088548963450106	0.42004	1.79519715807	0.91566	0.922384262085	0.98500	D	0.361336	0.72744	T	0.330183	0.85179	D	0.236509	0.84984	D	0.808945838615611	0.46972	D	0.976102	0.94694	D	0.17658952	0.38579	0.22033578	0.46806	0.17658952	0.38578	0.22033578	0.46805	-12.941	0.89118	D	0.2072796788609869	0.27701	0.994	0.95110	P	.;.	.;.	4.146015	0.62150	24.4	0.99856906937325962	0.93548	0.99031	0.90217	D	AEFBI	0.886036	0.81709	D	0.501868630553341	0.67199	5.050096	0.583478062151277	0.73756	6.022732	0.999999982178766	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	8.694000	0.91018	11.293000	0.92086	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.665	0.76972	922	0.19044	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	146.99	34	chr12	119757525	.	A	G	146.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.078e+00;DP=1073;ExcessHet=0.0000;FS=131.243;InbreedingCoeff=-0.0253;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.67;ReadPosRankSum=0.254;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1414	20	0	1	0
chr12	120196875	120196889	GGCAGCAGCCACAGG	-	exonic	RPLP0	.	nonframeshift deletion	RPLP0:NM_001002:exon8:c.838_852del:p.P280_A284del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.00119808	0.0005	0.0007	0.0003	0.0009	0	0.0004	0	0.0008	0.0002689	7	26028	rs572058538	0.0007	0.0007	0.0007	0.0007	0.0013	0.0007	0.0007	0.0010	0.0009	0.0007	8.945e-05	0.0002	0.0013	9.443e-05	0.0004	0.0008	0.0007	0.0005	0.0007	0.0007	0.0007	0.0007	0.0012	0.0006	0.0006	0.0007	0.0007	0.0006	0	0.0003	0.0006	0.0012	0	0.0034	0.0009	0.0005	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1298.94	37	chr12	120196874	.	TGGCAGCAGCCACAGG	T	1298.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=778;ExcessHet=0.0000;FS=0.861;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.64;MQRankSum=-1.000e-01;QD=16.65;ReadPosRankSum=0.924;SOR=0.631	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr12	120214922	120214922	C	T	exonic	PXN	.	nonsynonymous SNV	PXN:NM_001243756:exon8:c.G1223A:p.R408Q	.	.	418	1070	34	0	0	34	0.0156394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.638	P	0.112	B	.	.	1.000	D	-0.305	N	-2.25	D	-0.409	T	0.326	T	0.458	4.102	21.1	5.18	2.414	6.007	18.685	0.134	0.0797572520239	0.0016	0.000599042	0.0023	0.0003	0.0004	0	0.0032	0.0034	0	0.0009	0.0021216	328	154602	rs111674215	0.0019	0.0019	0.0020	0.0019	0.0224	0.0019	0.0019	0.0192	0.0180	0.0005	0.0012	0.0054	0.0002	0.0029	0.0224	0.0019	0.0030	0.0009	0.0016	0.0016	0.0013	0.0018	0.0020	0.0014	0.0013	0.0017	0.0016	0.0003	0	0.0012	0.0037	0.0004	0.0042	0.0068	0.0020	0.0019	0.0015	0.133	0.27544	T	0.271	0.23984	T	0.585	0.40359	P	0.105	0.31615	B	.	.	.	.	1	0.81001	D	-0.235	0.03917	N	-2.25	0.87272	D	-2.41	0.52938	N	0.525	0.61341	-0.4091	0.71739	T	0.326	0.69418	T	9	0.010912269	0.00241	T	0.079757	0.73308	D	0.399	0.71321	.	.	0.893840687942	0.89279	0.4575059753207088	0.45668	0.771881204982	0.64809	0.732327580452	0.71847	T	0.707445	0.91628	D	-0.245447	0.14661	T	-0.129335	0.61029	T	0.02653105194599	0.01479	T	0.858514	0.84742	D	0.26880148	0.49952	0.23454912	0.48674	0.26880148	0.49952	0.23454912	0.48673	-12.086	0.85897	D	.	.	0.335	0.55590	B	.;.;.;.;.;.	.;.;.;.;.;.	5.348436	0.89727	31	0.99892984177864352	0.96666	0.90481	0.51693	D	AEFDBCI	0.718958	0.66999	D	-0.043095108725219	0.39911	2.361425	0.164567877012949	0.47919	3.015019	0.999999999982393	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.18	5.18	0.71140	6.085000	0.70992	7.640000	0.63152	0.577000	0.29297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.685	0.91521	437	0.80299	.;.;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;.;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1827.98	33	chr12	120214922	.	C	T	1827.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.45;DP=822;ExcessHet=0.0000;FS=4.170;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.85;ReadPosRankSum=1.10;SOR=1.045	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1219	20	0	1	0
chr12	120504894	120504894	C	G	splicing	COQ5	NM_032314:exon5:c.770+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.675	18.68	4.8	2.377	6.447	15.235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424649	0.91260	D	0.372202	0.91151	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.361044	0.89905	31	0.99419366634059514	0.63694	0.99329	0.94577	D	AEFBI	.	.	.	1.10674132961129	0.98257	17.80249	0.939249420559417	0.97066	15.54136	0.99999932017092	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.162341	0.03957	1	0.117559	0.03655	0	0.975627	0.78610	4.8	4.8	0.61157	6.738000	0.74624	7.588000	0.61163	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	15.235	0.73112	552	0.72024	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1476.98	34	chr12	120504894	.	C	G	1476.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.27;DP=840;ExcessHet=0.0000;FS=1.337;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.98;ReadPosRankSum=-1.460e-01;SOR=0.542	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1152	20	0	1	0
chr12	120516635	120516635	A	G	exonic	COQ5	.	nonsynonymous SNV	COQ5:NM_032314:exon3:c.T506C:p.V169A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.995	D	0.936	D	0.000	D	1.000	D	1.12	L	1.13	T	-0.388	T	0.320	T	0.595	4.792	27.0	5.41	2.051	8.983	15.112	0.491	0.0354852189291	.	.	8.236e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs778498312	4.788e-06	4.788e-06	6.806e-06	2.75e-06	6.295e-06	1.99e-06	1.28e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.295e-06	0	0	1.314e-05	1.313e-05	0	2.691e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.78490	D	0.001	0.83351	D	0.995	0.67487	D	0.936	0.67150	D	0.000066	0.52346	D	0.167290	1	0.81001	D	0.97	0.24054	L	0.06	0.65006	T	-3.87	0.72594	D	0.542	0.56919	-0.3882	0.72398	T	0.320	0.68882	T	10	0.70942676	0.72948	D	0.035485	0.56377	D	0.491	0.77783	0.516	0.61611	0.780469985497	0.77844	0.8303746082175123	0.82996	0.666500385418	0.59201	0.373076289892	0.21273	T	0.318594	0.68995	T	0.073763	0.61303	D	-0.116335	0.62101	T	0.977594435214996	0.71919	D	0.959104	0.85028	D	0.72020644	0.79173	0.75371045	0.85443	0.72020644	0.79174	0.75371045	0.85444	-14.501	0.94571	D	.	.	0.656	0.72927	P	.;.;.;.	.;.;.;.	4.408800	0.68188	25.2	0.99879541098562419	0.95572	0.99160	0.92113	D	AEFDBI	0.900322	0.84571	D	0.669502799540413	0.77634	6.712918	0.691940816053327	0.81768	7.604179	0.999969022352475	0.48965	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.41	5.41	0.78313	9.310000	0.95328	11.007000	0.84821	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.873000	0.41610	1.0:0.0:0.0:0.0	15.112	0.72039	577	0.69927	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1030.98	34	chr12	120516635	.	A	G	1030.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.191e+00;DP=825;ExcessHet=0.0000;FS=2.581;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.21;ReadPosRankSum=1.07;SOR=0.462	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr12	120640719	120640719	C	T	exonic	CABP1	.	nonsynonymous SNV	CABP1:NM_001033677:exon1:c.C34T:p.P12S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.588	P	0.283	B	.	.	1.000	D	0	N	-1.1	T	-0.766	T	0.195	T	0.161	3.580	18.24	1.71	1.462	1.110	4.714	0.237	0.93541662256	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341149712	1.256e-05	3.489e-05	1.466e-05	1.021e-05	0.0004	7.01e-06	5.4e-06	0.0002	0.0001	0	0	0	0.0004	0	0	3.366e-06	4.997e-05	0	6.657e-06	6.574e-06	1.3e-05	0	1.491e-05	0	0	.	.	0	0	0	0	0	0	0	1.491e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.588	0.38987	P	0.283	0.40424	B	.	.	.	.	0.99964	0.20820	N	0	0.06538	N	-1.1	0.77336	T	-0.15	0.09297	N	0.252	0.28498	-0.7656	0.57099	T	0.195	0.54927	T	9	0.20381647	0.36550	T	0.935417	0.99537	D	0.237	0.54074	0.199	0.11247	0.043077524339	0.03247	0.1987134934351964	0.19788	1.16506249173	0.79592	0.924051880836	0.98616	D	0.009145	0.08348	T	-0.0677523	0.41686	T	-0.335098	0.40900	T	0.487600114258946	0.32176	T	0.553645	0.19140	T	0.106478974	0.25176	0.15613858	0.36570	0.106478974	0.25176	0.15613858	0.36569	-3.625	0.18219	T	.	.	0.147	0.32348	B	.	.	4.585226	0.72471	25.8	0.9981551262181021	0.89885	0.08122	0.14089	N	AEFDBCIJ	0.053507	0.09647	N	-0.21131668483614	0.32668	1.845	-0.163541737214967	0.32891	1.87578	0.993520857858215	0.33249	0.56387	0.32371	0	0.491552	0.07993	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	2.64	1.71	0.23429	1.080000	0.30390	4.199000	0.42456	0.430000	0.20916	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.8121:0.0:0.1879	4.714	0.12266	264	0.89640	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1516.04	12	chr12	120640719	.	C	T	1516.04	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.950e-01;DP=332;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0285;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.79;ReadPosRankSum=-6.500e-02;SOR=0.722	GT:AD:DP:GQ:PL	0/0:18,0:18:48:0,48,720	20	0	1	0
chr12	121232610	121232610	G	T	splicing	P2RX4	NM_001261397:exon10:c.898-1G>T;NM_001256796:exon11:c.1027-1G>T;NM_002560:exon10:c.979-1G>T;NM_001261398:exon10:c.979-1G>T	.	.	.	.	.	.	.	.	.	.	.	0.9999	0.928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.656	14.84	5.26	2.445	9.296	17.841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190898	0.73046	D	0.036436	0.72695	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	6.653321	0.95543	35	0.99377978015328883	0.61759	0.99188	0.92529	D	AEFDBCI	.	.	.	1.07973542960396	0.97741	16.67429	0.897958384763386	0.95482	13.66483	0.999999999999786	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.068591	0.01938	0	0.195515	0.04268	0	0.977448	0.81113	5.26	5.26	0.73479	9.467000	0.96833	11.624000	0.93645	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.476000	0.28476	0.0:0.0:1.0:0.0	17.841	0.88628	527	0.73864	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	755.98	34	chr12	121232610	.	G	T	755.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.76;DP=815;ExcessHet=0.0000;FS=0.825;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.79;ReadPosRankSum=0.075;SOR=0.794	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1213	20	0	1	0
chr12	121240525	121240525	-	TT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAA:p.G539Kfs*6,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/3:30,0,4,9,4,0:49:99:342,447,1724,113,1384,1349,0,1283,1200,1258,334,1111,766,658,1012,447,1724,1384,1283,1111,1724	4	0	0	0
chr12	121240525	121240525	-	TTT	exonic	CAMKK2	.	nonframeshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAA:p.K538_G539insK,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/3:30,0,4,9,4,0:49:99:342,447,1724,113,1384,1349,0,1283,1200,1258,334,1111,766,658,1012,447,1724,1384,1283,1111,1724	4	0	0	0
chr12	121240525	121240525	-	TTTT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAAA:p.G539Kfs*4,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/3:30,0,4,9,4,0:49:99:342,447,1724,113,1384,1349,0,1283,1200,1258,334,1111,766,658,1012,447,1724,1384,1283,1111,1724	4	0	0	0
chr12	121240525	121240525	-	TTTTT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAAAA:p.G539Kfs*7,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/3:30,0,4,9,4,0:49:99:342,447,1724,113,1384,1349,0,1283,1200,1258,334,1111,766,658,1012,447,1724,1384,1283,1111,1724	4	0	0	0
chr12	121245171	121245171	G	A	exonic	CAMKK2	.	nonsynonymous SNV	CAMKK2:NM_001270486:exon14:c.C1522T:p.R508C	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.435	M	0.65	T	-0.441	T	0.293	T	0.924	3.266	16.96	4.93	2.290	2.929	12.261	0.343	0.225571772144	7.7e-05	.	0.0001	0	0.0002	0.0009	0	3.111e-05	0	0.0003	7.76e-05	12	154602	rs201470961	7.837e-05	8.14e-05	7.38e-05	8.3e-05	0.0008	6.632e-05	6.172e-05	0.0005	0.0005	0	0	0	0.0008	0	0.0003	4.872e-05	0.0002	0.0002	9.847e-05	9.842e-05	8.993e-05	0.0001	0.0015	6.001e-05	4.875e-05	0.0008	0.0006	0	0	0	0	0.0015	0	0	5.879e-05	0	0.0006	0.001	0.91255	D	0.002	0.83351	D	0.998	0.90584	D	0.934	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	0.65	0.52642	T	-5.71	0.88495	D	0.843	0.87481	-0.4410	0.70697	T	0.293	0.66479	T	10	0.5751624	0.65538	D	0.225572	0.88003	D	0.343	0.66488	.	.	0.865686649726	0.86438	0.7352451559491158	0.73469	1.2086047739	0.80767	0.731103897095	0.71667	T	0.820433	0.95603	D	0.0304495	0.55784	T	0.170125	0.81416	D	0.563693702220917	0.34995	D	0.997	0.99243	D	0.48058018	0.65935	0.30026335	0.56060	0.48058018	0.65936	0.30026335	0.56059	-9.49	0.71313	D	.	.	0.198	0.64848	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.508330	0.91656	32	0.99928791480014967	0.99222	0.87573	0.47157	D	AEFBHCI	0.744575	0.68752	D	0.563147076848704	0.70885	5.567905	0.477685668468815	0.66513	4.961997	0.999481222704088	0.39952	0.67177	0.52595	0	0.702456	0.74545	0	0.779548	0.98927	0	0.711	0.71501	0	.	.	4.93	4.93	0.64394	3.009000	0.49239	8.683000	0.78050	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.691000	0.33868	0.0:0.0:0.8302:0.1698	12.261	0.53967	534	0.73357	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1526.98	35	chr12	121245171	.	G	A	1526.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.48;DP=805;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.41;ReadPosRankSum=-1.228e+00;SOR=0.653	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr12	121308554	121308554	G	A	exonic	ANAPC5	.	nonsynonymous SNV	ANAPC5:NM_001137559:exon17:c.C1858T:p.R620W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.994	D	0.502	P	0.008	N	1.000	D	1.24	L	-1.08	T	-0.331	T	0.339	T	0.443	4.177	21.6	4.65	2.646	2.014	10.866	0.401	0.0504457257343	0.0002	.	4.119e-05	9.617e-05	0	0	0	5.995e-05	0	0	5.17e-05	8	154602	rs373562790	7.388e-05	7.388e-05	7.351e-05	7.425e-05	8.453e-05	6.248e-05	5.807e-05	7.047e-05	6.54e-05	2.987e-05	0	0.0002	0	0	0	8.453e-05	0.0001	0	6.573e-05	6.567e-05	7.71e-05	5.382e-05	0.0001	3.518e-05	2.617e-05	5.843e-05	4.24e-05	2.413e-05	0	0	0.0003	0	0	0	0.0001	0	0	0.002	0.78490	D	0.003	0.76473	D	0.99	0.66517	D	0.402	0.47702	B	0.008164	0.30981	N	0.331999	0.970681	0.39432	D	0.805	0.20218	L	-1.08	0.77078	T	-3.36	0.74269	D	0.415	0.48780	-0.3308	0.74110	T	0.339	0.70494	T	10	0.32427078	0.49753	T	0.050446	0.64245	D	0.401	0.71479	.	.	0.708386449469	0.70584	0.5974652951340628	0.59677	1.22096986485	0.81087	0.389760792255	0.23636	T	0.131902	0.61869	T	-0.0826364	0.39285	T	-0.17495	0.56989	T	0.451890176566704	0.30866	T	0.963204	0.86318	D	0.19829056	0.41726	0.14876825	0.35154	0.19829056	0.41726	0.14876825	0.35153	-9.882	0.73202	D	.	.	0.151	0.33481	B	.;.;.;.	.;.;.;.	4.398631	0.67945	25.2	0.99919341340007395	0.98654	0.89187	0.49502	D	AEFBI	0.680447	0.64413	D	0.365792222596632	0.59578	4.138385	0.428072934613765	0.63319	4.563445	0.0214177847666011	0.13346	0.732398	0.92422	0	0.723133	0.82719	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.61	4.65	0.57626	2.035000	0.40776	4.069000	0.41649	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.6352:0.3648	10.866	0.46063	549	0.72275	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1933.98	42	chr12	121308554	.	G	A	1933.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.200e-01;DP=896;ExcessHet=0.0000;FS=2.487;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.92;ReadPosRankSum=0.465;SOR=0.517	GT:AD:DP:GQ:PL	0/1:107,88:195:99:1948,0,2469	20	0	1	0
chr12	121779653	121779653	C	T	exonic	RHOF	.	nonsynonymous SNV	RHOF:NM_019034:exon5:c.G481A:p.A161T,	.	.	422	1084	15	1	0	17	0.00778032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.041	B	0.009	B	0.000	D	1.000	D	-0.18	N	-0.43	T	-0.935	T	0.065	T	0.07	2.943	15.81	4.07	0.979	0.495	8.108	0.128	.	0.0025	0.014377	0.0102	0.0012	0.0074	0.0233	0.0156	0.0046	0.0167	0.0305	0.0092431	1429	154602	rs34719836	0.0054	0.0054	0.0046	0.0062	0.0286	0.0053	0.0052	0.0276	0.0273	0.0014	0.0061	0.0345	0.0180	0.0144	0.0132	0.0018	0.0090	0.0286	0.0054	0.0054	0.0044	0.0065	0.0296	0.0051	0.0050	0.0257	0.0242	0.0011	0	0.0073	0.0265	0.0199	0.0151	0.0272	0.0021	0.0118	0.0296	0.267	0.16198	T	0.117	0.36365	T	0.041	0.21357	B	0.009	0.14300	B	0.000064	0.52346	D	0.130199	0.733097	0.81001	D	0.105	0.08473	N	-0.43	0.69657	T	-0.58	0.17417	N	0.031	0.14622	-0.9351	0.43379	T	0.065	0.27017	T	10	0.0039672554	0.00076	T	.	.	.	0.128	0.35103	.	.	.	.	0.5111428600780548	0.51036	0.251119777169	0.27690	0.389992594719	0.23669	T	0.117886	0.59509	T	-0.540859	0.00331	T	-0.52737	0.19550	T	0.0136014360657771	0.00252	T	0.60024	0.23960	T	0.03787948	0.04942	0.0666522	0.13684	0.03787948	0.04941	0.0666522	0.13683	-3.98	0.23503	T	.	.	0.166	0.36495	B	.;.;.	.;.;.	1.789484	0.22746	15.75	0.98776299459780836	0.46049	0.24544	0.22426	N	AEFDGBCI	0.057339	0.10672	N	-0.493553668647655	0.22291	1.189256	-0.335312879505817	0.26967	1.493189	0.99999977544347	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.606735	0.37207	0	0.655142	0.61905	0	.	.	5.02	4.07	0.46726	0.609000	0.23935	0.637000	0.20283	-0.171000	0.11205	0.221000	0.24547	0.146000	0.23136	0.892000	0.42986	0.0:0.7962:0.0:0.2038	8.108	0.30059	662	0.61715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	668.98	36	chr12	121779653	.	C	T	668.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.072;DP=759;ExcessHet=0.0000;FS=3.549;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.45;ReadPosRankSum=-1.480e+00;SOR=0.346	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1199	20	0	1	0
chr12	122190278	122190278	A	G	exonic	LRRC43	.	nonsynonymous SNV	LRRC43:NM_001098519:exon5:c.A811G:p.I271V	.	.	424	1077	21	0	0	21	0.00965517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.003	B	0.002	B	0.093	N	0.716	N	1.825	L	1.77	T	-1.040	T	0.027	T	0.036	-0.084	3.588	-1.72	-0.560	-0.085	11.537	0.036	.	0.0053	0.00519169	0.0083	0.0014	0.0058	0	0.0029	0.0118	0.0078	0.0068	0.0079106	1223	154602	rs138172345	0.0079	0.0079	0.0079	0.0079	0.0170	0.0078	0.0077	0.0143	0.0133	0.0015	0.0059	0.0018	2.519e-05	0.0040	0.0170	0.0088	0.0078	0.0068	0.0059	0.0059	0.0063	0.0054	0.0091	0.0056	0.0054	0.0084	0.0082	0.0013	0	0.0091	0.0012	0	0.0026	0.0204	0.0090	0.0062	0.0081	0.569	0.08660	T	0.378	0.17014	T	0.003	0.11197	B	0.002	0.06944	B	0.092924	0.20249	N	0.502634	0.715986	0.29968	N	0.67	0.16346	N	1.77	0.25841	T	-0.21	0.10833	N	0.065	0.03726	-1.0403	0.17223	T	0.027	0.11663	T	10	0.0066871643	0.00152	T	.	.	.	0.036	0.09122	.	.	0.0138822411134	0.00435	0.3813495520131008	0.38049	0.201168129084	0.22514	0.284629940987	0.08147	T	0.00407	0.03483	T	-0.69704	0.00038	T	-0.764631	0.02949	T	0.00134554433574692	0.00013	T	0.664234	0.27311	T	0.026766114	0.01775	0.035503227	0.02815	0.026766114	0.01775	0.035503227	0.02815	-6.576	0.50869	T	.	.	0.056	0.00543	B	.;.	.;.	-0.641222	0.01463	0.090	0.47841072915640814	0.03944	0.05161	0.10976	N	AEFDBI	0.049523	0.08564	N	-0.988976136601366	0.08838	0.4159826	-0.998085431549693	0.09828	0.4912543	0.0057931333139533	0.11045	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.22	-1.72	0.07671	-0.020000	0.12466	-0.542000	0.08577	-0.087000	0.16196	0.011000	0.18532	0.000000	0.08366	0.067000	0.16453	0.5653:0.0:0.4347:0.0	11.537	0.49898	759	0.50631	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1034.98	40	chr12	122190278	.	A	G	1034.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.166;DP=928;ExcessHet=0.0000;FS=1.453;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.35;ReadPosRankSum=1.71;SOR=0.547	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr12	122200800	122200800	C	A	exonic	LRRC43	.	nonsynonymous SNV	LRRC43:NM_001098519:exon10:c.C1675A:p.P559T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.979	D	0.846	P	0.030	N	0.788	N	2.36	M	-0.18	T	-0.188	T	0.527	D	0.243	3.368	17.35	4.39	1.184	3.252	13.776	0.265	0.198403009929	.	.	3.411e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs747256381	6.161e-06	6.156e-06	4.087e-06	8.257e-06	8.116e-05	2.9e-06	2.1e-06	3.765e-05	2.662e-05	0	4.472e-05	0	0	0	0	0	0	8.116e-05	6.572e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.007	0.59928	D	0.013	0.63109	D	0.979	0.59044	D	0.846	0.60472	P	0.029564	0.25434	N	0.397457	0.788082	0.29257	N	2.87	0.83286	M	-0.78	0.73631	T	-5.64	0.86914	D	0.753	0.75192	-0.1883	0.77971	T	0.527	0.82399	D	10	0.6585002	0.70015	D	0.198403	0.86593	D	0.265	0.57870	0.352	0.35084	0.31411915649	0.31020	0.5024635416682446	0.50168	0.925594653911	0.71622	0.405045032501	0.25770	T	0.065285	0.32650	T	-0.225397	0.17263	T	-0.282108	0.46588	T	0.864057242870331	0.51425	D	0.765923	0.39354	T	0.22001493	0.44547	0.25748911	0.51466	0.22001493	0.44546	0.25748911	0.51465	-10.49	0.76790	D	.	.	0.146	0.32324	B	.	.	4.048182	0.59987	24.2	0.997597101826314	0.84931	0.89458	0.49935	D	AEFDBHCI	0.398248	0.47400	N	0.471804332247695	0.65452	4.824098	0.400382190512554	0.61588	4.361119	0.999999945307169	0.74766	0.533608	0.22052	0	0.61073	0.52368	0	0.505578	0.09266	0	0.584449	0.35598	0	.	.	5.31	4.39	0.52211	3.820000	0.55393	2.455000	0.32829	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.261000	0.23543	0.0:0.846:0.154:0.0	13.776	0.62543	759	0.50631	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1446.98	40	chr12	122200800	.	C	A	1446.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.880e-01;DP=903;ExcessHet=0.0000;FS=3.597;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=-8.120e-01;SOR=0.421	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1338	20	0	1	0
chr12	122584973	122584973	T	C	exonic	KNTC1	.	nonsynonymous SNV	KNTC1:NM_014708:exon36:c.T3517C:p.C1173R,	.	.	439	1080	3	0	0	3	0.00138696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.035	B	0.023	B	0.000	D	1.000	D	1.7	L	2.51	T	-1.101	T	0.035	T	0.529	0.305	5.655	4.75	1.029	1.522	12.565	0.196	0.00856594523639	.	.	0.0001	0	0	0	0	1.512e-05	0	0.0007	8.41e-05	13	154602	rs746410866	3.337e-05	3.559e-05	1.663e-05	5.021e-05	0.0007	2.584e-05	2.285e-05	0.0004	0.0003	0	2.243e-05	0	0	0	0.0007	0	3.354e-05	0.0005	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.032	0.44694	D	0.093	0.39799	T	0.035	0.20614	B	0.023	0.19966	B	0.000438	0.44522	D	0.241191	0.999933	0.81001	D	2.25	0.63811	M	2.51	0.14284	T	-3.0	0.62343	D	0.247	0.27910	-1.1011	0.03961	T	0.035	0.15204	T	10	0.077744186	0.12307	T	0.008566	0.22655	T	0.196	0.47777	0.664	0.80199	0.231231049324	0.22751	0.1376928691903483	0.13693	0.0538196573909	0.05943	0.316261053085	0.12855	T	0.035801	0.23858	T	-0.353169	0.04532	T	-0.380917	0.35614	T	0.102631941437721	0.12644	T	0.560744	0.19617	T	0.51935893	0.68223	0.38110462	0.63127	0.51935893	0.68224	0.38110462	0.63127	-3.206	0.12554	T	.	.	0.105	0.19235	B	.	.	1.585324	0.20279	14.68	0.67052989989372358	0.08240	0.97844	0.77553	D	AEFBI	0.448507	0.50371	N	-0.322852120911931	0.28282	1.558667	-0.211468724148681	0.31123	1.758445	0.999051034925274	0.38317	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.91	4.75	0.59954	1.488000	0.35160	0.805000	0.21696	0.665000	0.62972	1.000000	0.71638	0.619000	0.25806	0.014000	0.10232	0.0:0.0:0.139:0.861	12.565	0.55654	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2281.08	33	chr12	122584973	.	T	C	2281.08	.	AC=2;AF=0.048;AN=42;DP=757;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.62;SOR=0.948	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1126	20	1	0	0
chr12	122729619	122729619	G	A	exonic	HCAR1	.	nonsynonymous SNV	HCAR1:NM_032554:exon1:c.C721T:p.L241F,	.	.	425	1073	24	0	0	24	0.0110599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.983	D	0.037	N	1.000	N	2.23	M	0.99	T	-0.832	T	0.226	T	0.661	2.328	13.74	4.62	1.326	1.981	10.171	0.256	0.0188093097858	0.0010	0.00219649	0.0023	9.614e-05	0.0013	0	0.0003	0.0019	0.0055	0.0078	0.0022639	350	154602	rs140482291	0.0021	0.0021	0.0019	0.0024	0.0140	0.0021	0.0021	0.0116	0.0107	0.0007	0.0020	0.0081	0	0.0005	0.0140	0.0017	0.0028	0.0081	0.0016	0.0016	0.0015	0.0017	0.0066	0.0014	0.0014	0.0048	0.0042	0.0004	0	0.0019	0.0066	0	0.0003	0.0068	0.0019	0.0047	0.0066	0.011	0.55530	D	0.03	0.54159	D	0.998	0.73220	D	0.983	0.75793	D	0.037419	0.24405	N	0.295265	0.999998	0.08975	N	1.93	0.51437	L	0.99	0.41750	T	-2.22	0.49846	N	0.135	0.13198	-0.8322	0.53159	T	0.226	0.59108	T	10	0.007065475	0.00161	T	0.018809	0.40992	T	0.256	0.56694	.	.	0.637577279198	0.63459	0.30858399806346204	0.30771	0.650799847485	0.58349	0.424611747265	0.28471	T	0.140204	0.47462	T	-0.366664	0.03766	T	-0.294898	0.45261	T	0.0235094242187121	0.01085	T	0.69953	0.30934	T	0.22321285	0.44937	0.23477186	0.48703	0.22321285	0.44937	0.23477186	0.48702	-6.629	0.51274	T	.	.	0.204	0.42948	B	.	.	3.194699	0.43421	21.7	0.99814953146800689	0.89885	0.23035	0.21944	N	AEFBHCI	0.093794	0.18972	N	0.18923069861687	0.50682	3.255928	0.0251009080533347	0.40883	2.447117	0.999939323708171	0.46732	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.51	4.62	0.56946	0.098000	0.15027	3.535000	0.38974	0.676000	0.76740	0.002000	0.15269	1.000000	0.68203	0.608000	0.31589	0.0918:0.0:0.9082:0.0	10.171	0.42086	459	0.78817	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2200.98	34	chr12	122729619	.	G	A	2200.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.290e-01;DP=826;ExcessHet=0.0000;FS=2.409;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.75;ReadPosRankSum=-5.380e-01;SOR=0.960	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1094	20	0	1	0
chr12	122788906	122788906	A	G	exonic	CCDC62	.	nonsynonymous SNV	CCDC62:NM_201435:exon5:c.A647G:p.K216R,	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.197	B	0.119	B	0.000	N	1.000	D	0.765	N	1.41	T	-1.084	T	0.060	T	0.073	2.231	13.42	4.57	1.016	1.638	7.714	0.032	0.00770313040342	0.0002	0.000599042	0.0002	0	0	0	0	7.702e-05	0	0.0014	0.000194	30	154602	rs368758447	7.88e-05	7.867e-05	4.951e-05	0.0001	0.0012	6.668e-05	6.206e-05	0.0007	0.0006	0	2.539e-05	0	0	0	0.0012	2.617e-05	0.0001	0.0009	9.845e-05	9.842e-05	8.992e-05	0.0001	0.0012	6e-05	4.875e-05	0.0005	0.0004	0	0	0	0	0	0	0	0.0001	0	0.0012	0.284	0.16305	T	0.319	0.29945	T	0.197	0.29559	B	0.119	0.32162	B	0.000063	0.52346	N	0.068724	1	0.81001	D	1.545	0.39105	L	1.41	0.33630	T	-1.46	0.35792	N	0.137	0.13484	-1.0840	0.06591	T	0.060	0.25090	T	10	0.009296566	0.00210	T	0.007703	0.20431	T	0.032	0.07718	.	.	0.101711395817	0.09552	0.15741429879007968	0.15662	0.768795179903	0.64661	0.558340013027	0.47034	T	0.028747	0.20752	T	-0.566076	0.00233	T	-0.642253	0.09506	T	0.0642490367914116	0.07820	T	0.69953	0.30934	T	0.08098023	0.18584	0.07642673	0.16926	0.08098023	0.18584	0.07642673	0.16925	-6.739	0.52103	T	.	.	0.082	0.09094	B	.;.;.	.;.;.	2.401314	0.30853	18.56	0.9927367584079313	0.57661	0.55172	0.29797	D	AEFBI	0.072300	0.14424	N	-0.337866749713082	0.27721	1.52319	-0.205482385636585	0.31339	1.772621	0.442396857479021	0.20464	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.7	4.57	0.55860	1.850000	0.38968	6.943000	0.56998	0.756000	0.94297	0.671000	0.28357	1.000000	0.68203	0.994000	0.71098	0.9038:0.0:0.0962:0.0	7.714	0.27860	501	0.75956	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1147.98	34	chr12	122788906	.	A	G	1147.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.660e-01;DP=786;ExcessHet=0.0000;FS=1.812;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=-7.000e-02;SOR=0.459	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1226	20	0	1	0
chr12	122861718	122861718	-	T	exonic	HIP1R	.	frameshift insertion	HIP1R:NM_003959:exon32:c.3172_3173insT:p.D1058Vfs*23,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1766.94	34	chr12	122861718	.	G	GT	1766.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.280e-01;DP=821;ExcessHet=0.0000;FS=2.566;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.99;ReadPosRankSum=-4.810e-01;SOR=1.038	GT:AD:DP:GQ:PL	0/1:52,52:104:99:1781,0,1799	20	0	1	0
chr12	122867358	122867358	G	A	exonic	VPS37B	.	nonsynonymous SNV	VPS37B:NM_024667:exon4:c.C616T:p.R206C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	1.0	D	0.877	P	0.000	D	1.000	D	2.28	M	0.41	T	-0.543	T	0.289	T	0.798	2.504	14.33	4.54	1.270	4.743	13.289	0.309	0.116897473357	.	.	9.859e-06	0	0	0	0	1.839e-05	0	0	6.5e-06	1	154602	rs765772811	1.061e-05	1.437e-05	1.408e-05	7.109e-06	1.289e-05	6.37e-06	5.05e-06	7.48e-06	5.85e-06	0	0	0	0	0	0	1.289e-05	0	1.167e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.051	0.47828	T	1.0	0.90584	D	0.877	0.62241	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	0.41	0.57100	T	-2.92	0.63782	D	0.45	0.48780	-0.5429	0.67054	T	0.289	0.66094	T	10	0.43380514	0.57662	T	0.116897	0.79652	D	0.309	0.63055	0.248	0.18447	0.20808081866	0.20439	0.48077648969335846	0.47997	1.06096761696	0.76471	0.773575484753	0.77959	T	0.122664	0.44650	T	0.131701	0.67526	D	-0.048597	0.67118	D	0.949714839458466	0.63174	D	0.921608	0.71541	D	0.20123264	0.42127	0.12567632	0.30277	0.20123264	0.42127	0.12567632	0.30277	-4.299	0.28163	T	.	.	0.332	0.55390	B	.;.	.;.	4.728777	0.76146	26.5	0.99785931874657285	0.87219	0.94455	0.61221	D	AEFDBHCI	0.725793	0.67466	D	0.277813454145007	0.55024	3.666997	0.207482130056614	0.50264	3.220111	0.999999340409688	0.74766	0.646311	0.45356	0	0.577304	0.33150	0	0.645312	0.48771	0	0.636168	0.56350	0	.	.	5.44	4.54	0.55220	2.917000	0.48518	9.501000	0.80908	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.414000	0.27095	0.0:0.0:0.7115:0.2885	13.289	0.59697	313	0.87327	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	728.98	49	chr12	122867358	.	G	A	728.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=845;ExcessHet=0.0000;FS=3.402;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.05;ReadPosRankSum=-6.360e-01;SOR=0.368	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1386	20	0	1	0
chr12	123203287	123203287	T	G	exonic	MPHOSPH9	.	nonsynonymous SNV	MPHOSPH9:NM_022782:exon9:c.A1283C:p.N428T,	.	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.023	B	0.011	B	0.465	N	1.000	N	0.895	L	1.54	T	-1.017	T	0.048	T	0.098	1.311	10.29	2.57	0.534	-0.096	6.793	0.028	0.00438294644411	.	.	.	.	.	.	.	.	.	.	.	.	.	rs376569615	4.79e-06	4.788e-06	5.447e-06	4.127e-06	0.0003	1.99e-06	1.28e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	3.312e-05	3.481e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.334	0.12961	T	0.548	0.10000	T	.	.	.	.	.	.	0.464856	0.12348	N	0.785491	0.982268	0.24977	N	2.045	0.56016	M	1.37	0.34253	T	-1.47	0.35991	N	0.191	0.20925	-1.0168	0.24755	T	0.048	0.20395	T	10	0.10810974	0.20111	T	0.004383	0.10687	T	0.028	0.06331	.	.	0.451310735921	0.44754	0.03588438258104054	0.03535	.	.	0.249590069056	0.03724	T	0.017476	0.14250	T	-0.34435	0.05093	T	-0.631781	0.10280	T	0.0410098377174784	0.03874	T	0.620138	0.24270	T	0.048737165	0.08542	0.07211557	0.15522	0.048737165	0.08542	0.07211557	0.15521	-3.251	0.13114	T	.	.	0.109	0.20741	B	.;.	.;.	1.381623	0.17928	13.45	0.93653087073858921	0.23538	0.79247	0.39233	D	AEFBI	0.098374	0.19825	N	-0.427843594066871	0.24497	1.323153	-0.263682580615281	0.29304	1.641	1.31549517206188E-4	0.05486	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	6.16	2.57	0.29928	-0.093000	0.11077	-0.550000	0.08534	0.665000	0.62972	0.840000	0.30285	0.017000	0.20586	0.997000	0.79791	0.0:0.1502:0.2929:0.5569	6.793	0.22894	538	0.73119	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	790.98	34	chr12	123203287	.	T	G	790.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.580e-01;DP=762;ExcessHet=0.0000;FS=0.978;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=-6.960e-01;SOR=0.512	GT:AD:DP:GQ:PL	0/1:32,33:65:99:805,0,839	20	0	1	0
chr12	123313662	123313662	T	C	exonic	SBNO1	.	nonsynonymous SNV	SBNO1:NM_001167856:exon24:c.A3178G:p.M1060V	.	.	429	1042	45	6	0	57	0.0266231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.001	B	0.002	B	0.000	D	0.856	D	-0.44	N	1.65	T	-1.034	T	0.015	T	0.417	0.916	8.730	5.54	2.116	0.958	7.636	0.137	.	0.0029	0.0159744	0.0109	0.0007	0.0062	0.0237	0.0011	0.0044	0.0152	0.0436	0.0096312	1489	154602	rs61760910	0.0062	0.0063	0.0051	0.0073	0.0388	0.0061	0.0060	0.0377	0.0372	0.0006	0.0063	0.0103	0.0222	0.0012	0.0182	0.0033	0.0074	0.0388	0.0050	0.0050	0.0043	0.0057	0.0396	0.0047	0.0046	0.0350	0.0332	0.0007	0	0.0084	0.0107	0.0212	0.0013	0.0068	0.0035	0.0071	0.0396	0.183	0.21718	T	0.169	0.30534	T	0.001	0.07471	B	0.002	0.06944	B	0.000002	0.62929	D	0.058316	0.856217	0.35307	D	-0.31	0.03598	N	1.65	0.27650	T	-0.66	0.19085	N	0.333	0.39254	-1.0340	0.19173	T	0.015	0.06234	T	10	0.0048089623	0.00102	T	.	.	.	0.137	0.36984	.	.	.	.	0.38444614813562367	0.38359	0.688503199129	0.60440	0.510839700699	0.40340	T	0.009356	0.08525	T	-0.512294	0.00487	T	-0.479375	0.24512	T	0.00408432732271108	0.00043	T	0.880312	0.59828	D	0.071064286	0.15703	0.12246162	0.29540	0.071064286	0.15703	0.12246162	0.29539	-4.076	0.24935	T	.	.	0.069	0.03093	B	.;.;.	.;.;.	2.591516	0.33622	19.39	0.90063825735817182	0.19349	0.92334	0.55472	D	AEFGBI	0.219016	0.34395	N	-0.347043841201191	0.27380	1.501804	-0.0900975112708858	0.35799	2.075433	0.0120214417839473	0.12269	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	0.715000	0.25493	2.800000	0.34847	-0.194000	0.09177	0.938000	0.32564	0.999000	0.35428	0.582000	0.30943	0.139:0.0:0.1451:0.7159	7.636	0.27435	458	0.78890	Strawberry notch, helicase C domain;.;Strawberry notch, helicase C domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	3079.68	33	chr12	123313662	.	T	C	3079.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-6.800e-01;DP=866;ExcessHet=0.3300;FS=7.235;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=0.109;SOR=0.388	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	3	0
chr12	123602189	123602189	T	G	exonic	DDX55	.	nonsynonymous SNV	DDX55:NM_020936:exon1:c.T41G:p.V14G,	.	.	425	1092	5	0	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.136	B	0.025	B	0.175	N	1.000	D	2.215	M	3.95	T	-1.040	T	0.013	T	0.765	0.783	8.130	3.89	0.941	2.926	9.525	0.235	.	0.0022	0.00119808	0.0058	0.0014	0.0080	0	0.0054	0.0118	0	0.0009	0.0018693	289	154602	rs141195308	0.0033	0.0032	0.0034	0.0032	0.0038	0.0032	0.0031	0.0037	0.0036	0.0006	0.0013	0.0034	0	0.0011	0.0037	0.0038	0.0036	0.0006	0.0026	0.0026	0.0029	0.0024	0.0046	0.0024	0.0023	0.0042	0.0040	0.0008	0.0077	0.0010	0.0032	0	0.0012	0.0034	0.0046	0.0024	0.0002	0.172	0.32929	T	0.369	0.41405	T	0.136	0.27347	B	0.025	0.20508	B	0.175019	0.17263	N	0.578293	1	0.81001	D	2.33	0.66821	M	3.95	0.04188	T	-2.48	0.54059	N	0.564	0.59478	-1.0397	0.17404	T	0.013	0.04938	T	10	0.007573396	0.00172	T	.	.	.	0.235	0.53788	.	.	0.15556083564	0.15200	0.8740495128730666	0.87370	0.227375374882	0.25290	0.590337991714	0.51541	T	0.159261	0.50262	T	-0.329833	0.06124	T	-0.240019	0.50796	T	0.0323839035918789	0.02369	T	0.714229	0.32652	T	0.10473082	0.24759	0.16195619	0.37644	0.10473082	0.24758	0.16195619	0.37643	-10.603	0.77437	D	.	.	0.164	0.42763	B	.;.	.;.	2.544641	0.32927	19.19	0.55766816005005615	0.05411	0.94296	0.60715	D	ALL	0.316608	0.42084	N	-0.365254497385355	0.26716	1.460158	-0.344872438617722	0.26668	1.474507	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.03	3.89	0.44098	2.341000	0.43640	2.629000	0.33681	0.661000	0.55757	0.991000	0.37257	1.000000	0.68203	0.023000	0.12082	0.0:0.0796:0.0:0.9204	9.525	0.38322	348	0.85549	RNA helicase, DEAD-box type, Q motif;RNA helicase, DEAD-box type, Q motif	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	494.98	40	chr12	123602189	.	T	G	494.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.351e+00;DP=707;ExcessHet=0.0000;FS=1.252;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=1.96;SOR=0.888	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,985	20	0	1	0
chr12	123744756	123744756	G	A	exonic	ATP6V0A2	.	nonsynonymous SNV	ATP6V0A2:NM_012463:exon12:c.G1486A:p.A496T,	Cutis laxa, autosomal recessive, type IIA, Autosomal recessive;Wrinkly skin syndrome, Autosomal recessive	.	0	1510	12	0	0	12	0.00395778	.	.	177270	not_specified|Cutis_laxa_with_osteodystrophy|ATP6V0A2-related_disorder|not_provided|Inborn_genetic_diseases|ALG9_congenital_disorder_of_glycosylation	MedGen:CN169374|MONDO:MONDO:0018163,MedGen:C0268355,OMIM:219200,Orphanet:357058|.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012117,MedGen:C2931006,OMIM:608776,Orphanet:79328	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.57	T	0.002	B	0.001	B	0.038	N	1.000	N	0.345	N	-1.85	D	-0.810	T	0.283	T	0.047	0.736	7.909	-4.18	-1.008	-0.362	0.471	0.079	0.041143854896	.	0.00159744	0.0013	0	0.0003	0.0001	0	0.0008	0.0033	0.0062	0.0011966	185	154602	rs143142641	0.0008	0.0008	0.0006	0.0010	0.0066	0.0007	0.0007	0.0062	0.0060	8.961e-05	0.0006	0.0014	0	0	0.0017	0.0004	0.0007	0.0066	0.0005	0.0005	0.0003	0.0007	0.0062	0.0004	0.0004	0.0045	0.0039	2.407e-05	0	0.0004	0.0014	0.0004	0	0	0.0005	0.0005	0.0062	0.518	0.07307	T	0.572	0.08746	T	0.002	0.09854	B	0.001	0.04355	B	0.037805	0.01839	N	2.173870	1	0.08975	N	0	0.06538	N	-1.85	0.84267	D	-0.14	0.09135	N	0.069	0.04188	-0.8099	0.54556	T	0.283	0.65458	T	10	0.013159156	0.00280	T	0.041144	0.59768	D	0.079	0.23065	.	.	0.225902525712	0.22197	0.45341008408235595	0.45259	0.155586269279	0.17559	0.221252664924	0.01383	T	0.14563	0.48284	T	-0.557043	0.00264	T	-0.571011	0.15357	T	0.0050169609138208	0.00054	T	0.441356	0.12220	T	0.016524712	0.00203	0.033193264	0.02174	0.013304375	0.00055	0.031012543	0.01631	-3.695	0.19244	T	.	.	0.065	0.01909	B	.	.	-0.149271	0.03360	0.596	0.70530275826382138	0.09326	0.13779	0.18047	N	AEFDBCI	0.045268	0.07385	N	-1.54998895494316	0.01535	0.06702592	-1.58266884174898	0.01761	0.08012034	0.0318883539184954	0.14026	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.19	-4.18	0.03584	-0.148000	0.10203	-1.039000	0.06521	-2.148000	0.00374	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3262:0.1989:0.2726:0.2024	0.471	0.00496	345	0.85689	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	2686.98	33	chr12	123744756	.	G	A	2686.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.481;DP=927;ExcessHet=0.0000;FS=1.742;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.64;ReadPosRankSum=-1.217e+00;SOR=0.677	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1179	20	0	1	0
chr12	123799289	123799289	A	T	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon13:c.A1853T:p.Y618F	.	.	435	1082	5	0	0	5	0.00230521	.	.	3216458	DNAH10-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.46	T	0.545	P	0.583	P	0.000	N	0.851	D	0.98	L	0.4	T	-0.876	T	0.153	T	0.274	1.609	11.34	3.11	0.950	5.654	10.649	0.118	0.015864527977	0.0004	0.000399361	0.0006	0	0.0002	0	0	0.0003	0.0011	0.0029	0.0005563	86	154602	rs199570902	0.0005	0.0005	0.0004	0.0007	0.0040	0.0005	0.0005	0.0037	0.0035	0.0001	0.0001	0	0	0	0.0009	0.0003	0.0004	0.0040	0.0002	0.0002	0.0002	0.0002	0.0023	0.0002	0.0001	0.0013	0.0010	4.812e-05	0	0	0	0	0	0	0.0003	0	0.0023	0.175	0.22400	T	0.152	0.32249	T	0.545	0.37995	P	0.583	0.50264	P	0.000462	0.44119	N	0.092711	0.851486	0.35230	D	1.78	0.46185	L	0.36	0.57880	T	-2.27	0.50666	N	0.472	0.50778	-0.8764	0.50044	T	0.153	0.48222	T	10	0.010342479	0.00230	T	0.015865	0.36838	T	0.118	0.32913	.	.	0.440915056915	0.43709	0.1624457390257318	0.16164	0.170007074348	0.19168	0.47973304987	0.36019	T	0.219733	0.58282	T	-0.439573	0.01301	T	-0.407871	0.32472	T	0.083593865568556	0.10440	T	0.827217	0.49094	T	0.10523108	0.24880	0.07650457	0.16951	0.10523108	0.24880	0.07650457	0.16951	-3.545	0.17067	T	.	.	0.169	0.37140	B	.;.;.	.;.;.	1.894077	0.24054	16.25	0.94532640982608318	0.25032	0.97346	0.74169	D	AEFBI	0.708338	0.66278	D	-0.179313870913331	0.33997	1.935245	-0.100578154250689	0.35367	2.04532	0.00248292456808039	0.09470	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.64	3.11	0.34883	5.666000	0.67729	6.631000	0.56152	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.747000	0.35681	0.7447:0.0:0.0:0.2553	10.649	0.44829	327	0.86637	Dynein heavy chain, domain-1;Dynein heavy chain, domain-1;Dynein heavy chain, domain-1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	677.98	34	chr12	123799289	.	A	T	677.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.570e-01;DP=800;ExcessHet=0.0000;FS=0.818;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.53;ReadPosRankSum=0.062;SOR=0.555	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1277	20	0	1	0
chr12	123850976	123850976	A	C	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon34:c.A5837C:p.E1946A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.983	D	0.000	U	1.000	D	2.585	M	1.01	T	-0.411	T	0.288	T	0.876	4.947	28.7	5.48	2.084	9.339	15.592	0.657	0.0366681188696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	0.77913	D	0.983	0.75793	D	0.000001	0.84330	U	0.000000	1	0.81001	D	2.945	0.84822	M	.	.	.	.	.	.	.	.	-0.4110	0.71679	T	0.288	0.66026	T	10	0.8643676	0.85672	D	0.036668	0.57136	D	0.657	0.87135	0.704	0.84054	0.389283895039	0.38539	0.7188984835970317	0.71832	0.637416002275	0.57484	0.70775449276	0.68268	T	0.076452	0.35421	T	0.226507	0.76392	D	0.0875856	0.76084	D	0.997587561607361	0.91913	D	0.979602	0.93000	D	0.6948622	0.77776	0.68821764	0.81660	0.6948622	0.77777	0.68821764	0.81661	-13.203	0.90181	D	.	.	0.802	0.77390	P	.;.	.;.	4.980615	0.82498	27.8	0.99569618663240345	0.72318	0.98822	0.87309	D	AEFDGBI	0.934362	0.92761	D	0.843019938678565	0.88705	9.680655	0.797123499707169	0.89593	10.039	0.99999994989521	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.48	5.48	0.80675	9.325000	0.96006	11.139000	0.87016	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	1.0:0.0:0.0:0.0	15.592	0.76288	526	0.73951	Dynein heavy chain, hydrolytic ATP-binding dynein motor region D1|AAA+ ATPase domain;Dynein heavy chain, hydrolytic ATP-binding dynein motor region D1|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1021.98	33	chr12	123850976	.	A	C	1021.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.77;DP=797;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=-6.590e-01;SOR=0.680	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr12	123861023	123861023	C	T	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon38:c.C6407T:p.T2136M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.034	B	0.042	B	0.241	N	1.000	N	1.6	L	1.07	T	-1.009	T	0.096	T	0.105	0.321	5.742	1.99	-0.113	2.814	9.361	0.069	0.00730271558682	8.3e-05	.	1.657e-05	0	0	0	0	2.998e-05	0	0	1.94e-05	3	154602	rs372604094	1.642e-05	1.642e-05	1.906e-05	1.375e-05	2.236e-05	1.111e-05	9.33e-06	1.093e-05	8.81e-06	0	2.236e-05	0	0	0	0	1.709e-05	4.969e-05	1.159e-05	1.973e-05	1.97e-05	3.856e-05	0	4.411e-05	5.25e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	.	.	.	.	.	.	0.034	0.20480	B	0.042	0.24114	B	0.240912	0.15714	N	0.569325	1	0.08975	N	1.63	0.41750	L	.	.	.	.	.	.	.	.	-1.0088	0.27292	T	0.096	0.36107	T	10	0.08688903	0.14813	T	0.007303	0.19361	T	0.069	0.20116	.	.	0.104622674875	0.10061	0.1739697675666965	0.17316	0.159114722111	0.17954	0.246786475182	0.03437	T	0.004937	0.04364	T	-0.298246	0.08826	T	-0.602541	0.12598	T	0.0537201932055915	0.06142	T	0.50265	0.15781	T	0.018998364	0.00424	0.045687106	0.06204	0.018998364	0.00424	0.045687106	0.06203	-3.317	0.13958	T	.	.	0.062	0.01367	B	.;.	.;.	1.691359	0.21548	15.25	0.87223627802113757	0.17075	0.23830	0.22201	N	AEFBI	0.044625	0.07202	N	-0.800575777671166	0.13295	0.65397	-0.750690113536489	0.15705	0.8273246	9.49937795369835E-4	0.08042	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.59	1.99	0.25423	2.802000	0.47612	0.110000	0.14769	-0.715000	0.03906	0.997000	0.40164	0.000000	0.08366	0.537000	0.29868	0.0:0.2687:0.0:0.7313	9.361	0.37357	608	0.67185	ATPase, dynein-related, AAA domain|AAA+ ATPase domain;ATPase, dynein-related, AAA domain|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	785.98	40	chr12	123861023	.	C	T	785.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.040e-01;DP=762;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.62;ReadPosRankSum=0.544;SOR=0.696	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1321	20	0	1	0
chr12	123873673	123873673	G	A	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon45:c.G7547A:p.R2516H	.	.	434	1082	6	0	0	6	0.00276498	.	.	753192	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.982	D	0.000	U	1.000	D	2.415	M	1.22	T	-0.592	T	0.253	T	0.706	4.749	26.6	5.51	2.599	7.952	19.417	0.441	.	.	0.00239617	0.0030	0	0.0002	0	0	1.823e-05	0.0013	0.0209	0.0020828	322	154602	rs552303091	0.0010	0.0010	0.0006	0.0015	0.0167	0.0010	0.0010	0.0159	0.0157	5.98e-05	6.755e-05	0	0	0.0003	0.0003	8.999e-06	0.0009	0.0167	0.0006	0.0006	0.0003	0.0010	0.0189	0.0005	0.0005	0.0158	0.0146	0	0	0	0	0	0.0002	0	4.409e-05	0.0005	0.0189	.	.	.	.	.	.	1.0	0.90584	D	0.982	0.75477	D	0.000001	0.62929	U	0.000000	0.999994	0.58761	D	2.485	0.72352	M	.	.	.	.	.	.	.	.	-0.5919	0.65144	T	0.253	0.62258	T	10	0.010256082	0.00229	T	.	.	.	0.441	0.74447	0.571	0.69431	0.454987352986	0.45123	0.52873461296907	0.52797	0.301522529725	0.32488	0.682573199272	0.64638	T	0.032285	0.22418	T	-0.252847	0.13751	T	-0.122348	0.61609	T	0.135493998602017	0.15880	T	0.956904	0.83579	D	0.47960675	0.65876	0.5302917	0.72860	0.47960675	0.65877	0.5302917	0.72860	-5.596	0.42755	T	.	.	0.120	0.24700	B	.;.	.;.	4.589598	0.72579	25.9	0.99940904705676037	0.99797	0.98178	0.80279	D	AEFBI	0.926009	0.90646	D	0.83452232204339	0.88208	9.493442	0.800462108434435	0.89824	10.13727	0.996440659766596	0.34750	0.549168	0.22868	0	0.610034	0.51514	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	5.51	5.51	0.81769	8.078000	0.89313	7.416000	0.58680	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	0.0:0.0:1.0:0.0	19.417	0.94696	649	0.63102	AAA+ ATPase domain;AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1036.98	39	chr12	123873673	.	G	A	1036.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.285e+00;DP=817;ExcessHet=0.0000;FS=1.635;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.27;ReadPosRankSum=-1.880e-01;SOR=0.539	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1359	20	0	1	0
chr12	123913135	123913135	G	A	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon59:c.G9818A:p.R3273Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.593	P	0.206	B	0.079	N	0.993	D	1.65	L	-0.78	T	-0.747	T	0.391	T	0.19	2.180	13.24	5.54	2.592	4.809	19.466	0.106	0.029729491702	8.4e-05	.	0.0001	0	0.0001	0	0	3.833e-05	0.0015	0.0005	7.12e-05	11	154602	rs376946277	0.0001	0.0001	8.041e-05	0.0001	0.0016	8.794e-05	8.28e-05	0.0008	0.0006	2.988e-05	0	0	0	0	0.0016	7.199e-05	0.0002	0.0006	9.201e-05	9.194e-05	8.994e-05	9.419e-05	0.0004	5.529e-05	4.366e-05	7.293e-05	4.302e-05	0.0001	0	0	0	0	0	0	7.349e-05	0.0005	0.0004	0.075	0.34444	T	0.059	0.45961	T	0.593	0.39147	P	0.206	0.37138	B	0.078806	0.02331	N	2.169660	0.992913	0.41780	D	1.485	0.37223	L	-1.4	0.80474	T	-3.57	0.68999	D	.	.	-0.7466	0.58113	T	0.391	0.74510	T	10	0.12737039	0.24222	T	0.029729	0.52182	D	0.282	0.59981	.	.	0.520963378925	0.51741	0.21055801526122564	0.20971	0.22211241292	0.24744	0.410459458828	0.26520	T	0.230822	0.59699	T	-0.310217	0.07729	T	-0.324801	0.42045	T	0.0609051721870607	0.07310	T	0.910909	0.68443	D	0.17854919	0.38881	0.19334385	0.42897	0.17854919	0.38880	0.19334385	0.42896	-4.853	0.35202	T	.	.	0.167	0.36850	B	.;.;.	.;.;.	4.682969	0.74965	26.2	0.98888922053154393	0.47966	0.94860	0.62581	D	AEFDBIJ	0.622008	0.60649	D	0.100617492505488	0.46491	2.888662	0.157687278804389	0.47550	2.983623	0.995757050849086	0.34306	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.54	5.54	0.82907	4.910000	0.63017	8.520000	0.77419	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.660000	0.32968	0.0:0.0:1.0:0.0	19.466	0.94936	730	0.54327	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3108.98	33	chr12	123913135	.	G	A	3108.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.69;DP=943;ExcessHet=0.0000;FS=1.569;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.85;ReadPosRankSum=-3.640e-01;SOR=0.815	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr12	123916480	123916480	C	A	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon62:c.C10392A:p.D3464E	.	.	428	1031	62	1	0	64	0.0301035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.998	D	0.951	D	0.000	D	0.999	D	2.94	M	2.01	T	-0.959	T	0.090	T	0.604	3.549	18.10	3.72	2.177	2.961	3.143	0.237	.	0.0067	0.0109824	0.0116	0.0015	0.0033	0.0002	0.0015	0.0083	0.0157	0.0471	0.0105367	1629	154602	rs61745785	0.0097	0.0097	0.0083	0.0112	0.0478	0.0096	0.0095	0.0465	0.0460	0.0015	0.0038	0.0057	0.0001	0.0011	0.0297	0.0080	0.0098	0.0478	0.0062	0.0062	0.0057	0.0067	0.0459	0.0059	0.0058	0.0410	0.0390	0.0013	0.0066	0.0037	0.0058	0.0004	0.0016	0.0205	0.0081	0.0080	0.0459	.	.	.	.	.	.	0.998	0.73220	D	0.951	0.68939	D	0.000000	0.84330	D	0.000000	0.999047	0.45943	D	2.575	0.75298	M	.	.	.	.	.	.	.	.	-0.9593	0.39311	T	0.090	0.34518	T	10	0.008819342	0.00200	T	.	.	.	0.237	0.54074	0.399	0.42753	.	.	0.5668023242090957	0.56608	0.491414588271	0.47834	0.651649415493	0.60219	T	0.027816	0.20287	T	-0.415797	0.01820	T	-0.335732	0.40826	T	0.0198974521952076	0.00690	T	0.944506	0.78979	D	0.43194187	0.62879	0.34993237	0.60610	0.43194187	0.62880	0.34993237	0.60610	-9.784	0.72607	D	.	.	0.283	0.51592	B	.;.	.;.	4.087550	0.60855	24.3	0.99672905042637427	0.78717	0.91670	0.54014	D	AEFBI	0.654762	0.62733	D	0.611963586448856	0.73930	6.047201	0.514895579047583	0.68990	5.297094	0.0179896438730856	0.13010	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	4.74	3.72	0.41857	2.989000	0.49082	4.760000	0.44710	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.735000	0.35267	0.0:0.5625:0.0:0.4375	3.143	0.06073	730	0.54327	Dynein heavy chain, ATP-binding dynein motor region D5;Dynein heavy chain, ATP-binding dynein motor region D5	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1558.98	35	chr12	123916480	.	C	A	1558.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.592;DP=804;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.30;ReadPosRankSum=0.680;SOR=0.758	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1296	20	0	1	0
chr12	123917794	123917794	C	T	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon63:c.C10859T:p.T3620I	.	.	424	1070	28	0	0	28	0.0129151	.	.	713425	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.967	D	0.000	D	1.000	D	2.165	M	0.63	T	-0.496	T	0.235	T	0.9	4.736	26.4	5.07	2.372	7.731	18.449	0.468	0.0259080949994	0.0031	0.00199681	0.0063	0.0007	0.0058	0	0.0029	0.0092	0.0042	0.0042	0.0025291	391	154602	rs202063832	0.0040	0.0040	0.0040	0.0041	0.0105	0.0040	0.0039	0.0084	0.0076	0.0008	0.0021	0.0052	0	0.0050	0.0105	0.0042	0.0046	0.0046	0.0032	0.0031	0.0032	0.0031	0.0048	0.0029	0.0028	0.0044	0.0042	0.0009	0	0.0020	0.0052	0.0002	0.0030	0.0068	0.0048	0.0066	0.0037	.	.	.	.	.	.	0.999	0.77913	D	0.967	0.71530	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.275	0.64647	M	.	.	.	.	.	.	.	.	-0.4957	0.68804	T	0.235	0.60136	T	10	0.0073304474	0.00167	T	0.025908	0.48854	D	0.468	0.76289	.	.	0.455816718377	0.45207	0.8171026773562577	0.81666	0.639922825261	0.57644	0.712756216526	0.68993	T	0.046452	0.27428	T	-0.0658117	0.41995	T	0.135024	0.79221	D	0.00860745491178928	0.00105	T	0.953405	0.82184	D	0.62834245	0.74210	0.56730133	0.74952	0.62834245	0.74211	0.56730133	0.74953	-9.628	0.71653	D	.	.	0.867	0.80682	P	.;.	.;.	4.076156	0.60605	24.2	0.99858410434815026	0.93729	0.96472	0.69308	D	AEFDBHCI	0.929618	0.91566	D	0.778864471843494	0.84767	8.380657	0.747256925603901	0.85951	8.736464	0.999999829888769	0.74766	0.516011	0.20929	0	0.573888	0.26702	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	5.07	5.07	0.68106	7.818000	0.84740	7.592000	0.61280	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.449	0.90643	730	0.54327	Dynein heavy chain, ATP-binding dynein motor region D5;Dynein heavy chain, ATP-binding dynein motor region D5	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1840.98	38	chr12	123917794	.	C	T	1840.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=866;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=-5.870e-01;SOR=0.681	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1164	20	0	1	0
chr12	123926653	123926653	A	G	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon68:c.A11584G:p.M3862V	.	.	.	.	.	.	.	.	.	.	.	2359664	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.000	D	1.000	D	-2.225	N	3.18	T	-0.980	T	0.004	T	0.24	-1.069	0.174	4.79	1.787	4.533	5.259	0.096	0.00549301333875	0.0002	0.000399361	0.0001	0.0007	0	0.0002	0	4.508e-05	0	6.083e-05	0.0001035	16	154602	rs142101429	9.034e-05	9.029e-05	8.715e-05	9.355e-05	0.0003	7.76e-05	7.303e-05	0.0001	0.0001	0.0003	0.0002	0	0.0001	1.874e-05	0.0002	7.916e-05	0.0002	8.12e-05	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	8.713e-05	0.0002	0.0002	0.0004	0	6.537e-05	0	0.0002	0	0	7.35e-05	0	0.0002	.	.	.	.	.	.	0.0	0.02946	B	0.002	0.06944	B	0.000007	0.62929	D	0.070492	0.832289	0.34936	D	-1.9	0.00240	N	.	.	.	.	.	.	.	.	-0.9800	0.35002	T	0.004	0.01330	T	10	0.016755104	0.00354	T	0.005493	0.14136	T	0.096	0.27654	.	.	0.0986583533028	0.09354	0.13042228629303115	0.12967	0.146576533323	0.16541	0.395446449518	0.24435	T	4.68E-4	0.00164	T	-0.49308	0.00625	T	-0.588567	0.13790	T	0.0136285068216957	0.00253	T	0.816118	0.47137	T	0.12990436	0.30326	0.1232394	0.29718	0.12990436	0.30326	0.1232394	0.29718	-0.071	0.00375	T	.	.	0.055	0.00420	B	.;.	.;.	2.162488	0.27548	17.50	0.76155555910686268	0.11355	0.60976	0.31350	D	AEFDBI	0.071676	0.14279	N	-0.718644117084577	0.15498	0.7815661	-0.413956018460894	0.24588	1.347235	0.332936350490836	0.19504	0.549168	0.22868	0	0.573888	0.26702	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	4.79	4.79	0.60909	4.576000	0.60626	4.647000	0.44180	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	0.941000	0.48210	0.7595:0.0:0.2405:0.0	5.259	0.14881	749	0.51929	Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2364.98	34	chr12	123926653	.	A	G	2364.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.320e-01;DP=904;ExcessHet=0.0000;FS=0.519;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-1.411e+00;SOR=0.765	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1427	20	0	1	0
chr12	123928550	123928550	A	G	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon69:c.A11915G:p.K3972R	.	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.007	B	0.027	B	0.050	N	1.000	N	1.375	L	3.07	T	-1.015	T	0.021	T	0.081	1.779	11.91	2.12	0.113	2.980	9.664	0.034	0.00552301942405	.	.	2.684e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs745736549	8.233e-06	8.209e-06	6.822e-06	9.66e-06	0.0003	4.39e-06	3.47e-06	6.094e-05	2.522e-05	0	6.786e-05	0	0	0	0.0003	1.802e-06	4.982e-05	2.347e-05	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	0.007	0.14184	B	0.027	0.21085	B	0.050422	0.23072	N	0.477219	0.999989	0.18198	N	1.575	0.39704	L	.	.	.	.	.	.	.	.	-1.0149	0.25368	T	0.021	0.08870	T	10	0.09904829	0.17948	T	0.005523	0.14227	T	0.034	0.08419	0.378	0.39319	0.180583059064	0.17676	0.1708726894579674	0.17007	0.11970570795	0.13485	0.370971620083	0.20971	T	0.003093	0.02494	T	-0.436358	0.01359	T	-0.681183	0.06911	T	0.0863466635346413	0.10778	T	0.784022	0.42156	T	0.117614016	0.27725	0.14675549	0.34757	0.117614016	0.27725	0.14675549	0.34756	-6.633	0.51304	T	.	.	0.075	0.05404	B	.;.	.;.	2.007954	0.25515	16.79	0.97751864681114131	0.35751	0.74673	0.36535	D	AEFDBHCIJ	0.190549	0.31777	N	-0.436954080257398	0.24185	1.304069	-0.308316191219833	0.27830	1.547036	0.999999501191919	0.74766	0.764865	0.99124	0	0.628146	0.54582	0	0.685742	0.62368	0	0.542086	0.14980	0	.	.	5.76	2.12	0.26372	2.954000	0.48806	1.920000	0.29703	-0.065000	0.16512	0.984000	0.35821	0.470000	0.25048	0.856000	0.40543	0.8027:0.0:0.1973:0.0	9.664	0.39136	749	0.51929	Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	809.98	33	chr12	123928550	.	A	G	809.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.204e+00;DP=783;ExcessHet=0.0000;FS=2.701;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.10;ReadPosRankSum=-1.499e+00;SOR=0.986	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1092	20	0	1	0
chr12	123933349	123933349	A	G	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon76:c.A12961G:p.S4321G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.0	B	0.001	B	0.109	N	1.000	N	0.77	N	3.03	T	-0.966	T	0.015	T	0.067	0.090	4.483	-1.26	-0.233	0.795	11.324	0.037	0.00411626074775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	0.108642	0.19518	N	0.557794	1	0.08975	N	1.32	0.33002	L	.	.	.	.	.	.	.	.	-0.9664	0.37934	T	0.015	0.05801	T	10	0.11146429	0.20873	T	0.004116	0.09838	T	0.037	0.09474	0.358	0.36060	0.0401082797425	0.02173	0.2119901339902374	0.21115	0.132148160993	0.14894	0.334663689137	0.15637	T	0.00487	0.04291	T	-0.369421	0.03624	T	-0.768424	0.02820	T	0.266849130392075	0.23612	T	0.784022	0.42156	T	0.14749323	0.33716	0.11949873	0.28843	0.14749323	0.33716	0.11949873	0.28842	-4.82	0.34823	T	.	.	0.081	0.08224	B	.;.	.;.	0.481313	0.08509	5.269	0.59061093231786788	0.06136	0.07398	0.13417	N	AEFDBI	0.123140	0.23860	N	-0.949091606872654	0.09713	0.4609085	-0.941620939011787	0.11118	0.5644556	0.0236133115351312	0.13520	0.549168	0.22868	0	0.610034	0.51514	0	0.59043	0.30614	0	0.616125	0.45549	0	.	.	5.18	-1.26	0.08892	0.795000	0.26632	0.035000	0.13787	0.756000	0.94297	0.002000	0.15269	0.000000	0.08366	0.741000	0.35472	0.4906:0.0:0.5094:0.0	11.324	0.48675	754	0.51307	Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1183.98	42	chr12	123933349	.	A	G	1183.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.386;DP=834;ExcessHet=0.0000;FS=8.679;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=-4.420e-01;SOR=0.556	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485	20	0	1	0
chr12	124347842	124347842	C	T	exonic	NCOR2	.	nonsynonymous SNV	NCOR2:NM_001077261:exon31:c.G4025A:p.R1342H	.	.	426	1075	19	2	0	23	0.0105844	.	.	2817097	not_provided|NCOR2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.997	D	0.000	D	1.000	D	1.78	L	1.33	T	-0.656	T	0.187	T	0.709	2.369	13.88	4.97	2.289	3.613	18.221	0.331	.	0.0054	0.00239617	0.0091	0.0008	0.0133	0	0.0092	0.0150	0	0.0045	0.0041849	647	154602	rs36081651	0.0070	0.0070	0.0071	0.0070	0.0082	0.0069	0.0069	0.0081	0.0080	0.0015	0.0033	0.0004	0	0.0027	0.0028	0.0082	0.0052	0.0047	0.0050	0.0050	0.0051	0.0049	0.0081	0.0047	0.0046	0.0075	0.0073	0.0020	0	0.0049	0	0.0002	0.0020	0.0034	0.0081	0.0062	0.0035	0.002	0.72154	D	0.019	0.76473	D	1.0	0.90584	D	0.997	0.86255	D	0.000002	0.62929	D	0.060712	0.999988	0.54805	D	.	.	.	0.98	0.52642	T	-3.76	0.71276	D	0.659	0.70966	-0.6562	0.62443	T	0.187	0.53782	T	10	0.0076479316	0.00174	T	.	.	.	0.331	0.65325	.	.	0.630848879153	0.62783	0.31280919931542533	0.31193	0.78987071567	0.65723	0.719672679901	0.69999	T	0.320496	0.69168	T	-0.248564	0.14274	T	-0.116847	0.62060	T	0.0165952890075181	0.00420	T	0.958704	0.87984	D	0.5638964	0.70725	0.49180996	0.70603	0.5638964	0.70726	0.49180996	0.70603	-12.515	0.87269	D	.	.	0.304	0.53277	B	.;.;.;.;.;.	.;.;.;.;.;.	5.155787	0.86370	28.9	0.99824046849717452	0.90677	0.90369	0.51490	D	AEFDGBHCI	0.506315	0.53709	D	0.517145431394441	0.68102	5.171424	0.455610526932754	0.65076	4.778456	0.999989857141621	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.97	4.97	0.65419	3.680000	0.54375	5.827000	0.50131	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.838000	0.39538	0.0:1.0:0.0:0.0	18.221	0.89838	496	0.76301	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1086.98	101	chr12	124347842	.	C	T	1086.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=801;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=0.415;SOR=0.757	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1328	20	0	1	0
chr12	124402521	124402521	-	GCTGCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1519_1520insAGCAGC:p.Q509_P510insQQ	.	.	0	15	9	3	199	214	0.333333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	2/2:2,0,55,0,0:57:86:2135,2142,2221,86,165,0,2142,2221,165,2221,2142,2221,165,2221,2221	0	1	2	0
chr12	124402521	124402521	-	GCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1519_1520insAGC:p.Q509_P510insQ	.	.	0	15	9	3	199	214	0.333333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	2/2:2,0,55,0,0:57:86:2135,2142,2221,86,165,0,2142,2221,165,2221,2142,2221,165,2221,2221	0	1	2	0
chr12	124402521	124402521	-	GCTGCTGCTGCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1519_1520insAGCAGCAGCAGC:p.Q509_P510insQQQQ	.	.	0	15	9	3	199	214	0.333333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	2/2:2,0,55,0,0:57:86:2135,2142,2221,86,165,0,2142,2221,165,2221,2142,2221,165,2221,2221	0	1	2	0
chr12	124402513	124402521	GCTGCTGCT	-	exonic	NCOR2	.	nonframeshift deletion	NCOR2:NM_001077261:exon16:c.1520_1528del:p.Q507_Q509del	.	.	0	15	9	3	199	214	0.333333	.	.	3196719	NCOR2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0221645	0.0099	0.0012	0.0160	0.0761	0	0.0011	0.0117	0.0168	0.0047283	731	154602	rs559681337	0.0048	0.0047	0.0044	0.0052	0.0945	0.0047	0.0047	0.0918	0.0908	0.0009	0.0120	0.0002	0.0945	0.0004	0.0020	0.0006	0.0064	0.0186	0.0046	0.0047	0.0039	0.0054	0.0687	0.0044	0.0042	0.0627	0.0604	0.0012	0	0.0060	0	0.0687	0.0008	0	0.0010	0.0048	0.0268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	2/2:2,0,55,0,0:57:86:2135,2142,2221,86,165,0,2142,2221,165,2221,2142,2221,165,2221,2221	0	1	2	0
chr12	124430757	124430757	G	A	exonic	NCOR2	.	nonsynonymous SNV	NCOR2:NM_001077261:exon11:c.C913T:p.L305F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.998	D	0.003	N	1.000	D	1.845	L	0.62	T	-0.650	T	0.234	T	0.718	2.255	13.50	3.75	2.104	7.850	9.914	0.364	0.0244630492453	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.032	0.57587	D	0.998	0.73220	D	0.996	0.84481	D	0.002978	0.35639	N	0.187977	0.999996	0.81001	D	1.975	0.53506	M	0.62	0.53302	T	-3.42	0.72820	D	0.682	0.70263	-0.6498	0.62723	T	0.234	0.60026	T	10	0.60138535	0.66932	D	0.024463	0.47448	T	0.364	0.68407	0.364	0.37036	0.655744367491	0.65287	0.9560031147876591	0.95585	1.04679910713	0.75980	0.89358997345	0.95700	D	0.850955	0.96608	D	0.11494	0.65860	D	-0.0726728	0.65435	T	0.904618203639984	0.55813	D	0.991087	0.97264	D	0.2484968	0.47836	0.31409073	0.57402	0.2484968	0.47836	0.31409073	0.57401	-9.934	0.73516	D	.	.	0.988	0.92981	P	.;.;.;.;.;.	.;.;.;.;.;.	4.735021	0.76299	26.5	0.98097851791454838	0.38245	0.98799	0.87003	D	AEFBI	0.907928	0.86258	D	0.660444076156538	0.77046	6.599967	0.601750265313068	0.75068	6.245378	0.999999731709585	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.75	3.75	0.42236	8.178000	0.89637	8.176000	0.76768	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0952:0.0:0.9048:0.0	9.914	0.40594	474	0.77851	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	108.83	104	chr12	124430757	.	G	A	108.83	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-3.957e+00;DP=2018;ExcessHet=0.1072;FS=180.413;InbreedingCoeff=-0.0643;MLEAC=2;MLEAF=0.050;MQ=60.00;MQRankSum=0.00;QD=0.30;ReadPosRankSum=1.49;SOR=10.713	GT:AD:DP:GQ:PL	0/1:132,48:180:54:54,0,1880	18	0	2	1
chr12	124967176	124967176	G	A	exonic	DHX37	.	nonsynonymous SNV	DHX37:NM_032656:exon11:c.C1451T:p.A484V,	.	.	387	1134	1	0	0	1	0.000440723	.	.	2091267	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.47	T	0.146	B	0.018	B	0.027	N	1.000	N	1.095	L	2.71	T	-1.019	T	0.026	T	0.225	1.858	12.17	4.0	1.072	5.167	12.765	0.052	0.00421589633447	0.0009	0.000798722	0.0007	0.0013	0	0	0.0002	0.0009	0	0.0001	0.000718	111	154602	rs150152903	0.0012	0.0012	0.0012	0.0012	0.0014	0.0011	0.0011	0.0014	0.0013	0.0009	0.0002	3.826e-05	5.038e-05	0.0007	0	0.0014	0.0005	3.478e-05	0.0010	0.0010	0.0010	0.0010	0.0015	0.0009	0.0008	0.0012	0.0011	0.0010	0	6.538e-05	0	0.0002	0.0005	0	0.0015	0.0005	0.0002	0.459	0.08762	T	0.517	0.15698	T	0.146	0.27821	B	0.018	0.18489	B	0.027126	0.25807	N	0.442255	1	0.08975	N	1.785	0.46417	L	2.71	0.12055	T	-2.35	0.51968	N	0.319	0.35938	-1.0194	0.23910	T	0.026	0.11176	T	10	0.02716723	0.00868	T	0.004216	0.10153	T	0.052	0.14661	.	.	0.255117706274	0.25116	0.45265242930825367	0.45183	0.425612778913	0.42963	0.539462804794	0.44369	T	0.044042	0.26692	T	-0.534563	0.00361	T	-0.565267	0.15886	T	0.0468646569399444	0.04940	T	0.861714	0.55578	D	0.039766748	0.05553	0.0722454	0.15564	0.05061894	0.09171	0.09029849	0.21166	-8.642	0.65365	D	0.1479039210928225	0.17179	0.114	0.22573	B	.;.	.;.	3.379557	0.46740	22.3	0.99180132949967981	0.54643	0.95247	0.63985	D	AEFDBI	0.389711	0.46882	N	-0.298234874716249	0.29216	1.61827	-0.196991604990045	0.31647	1.792958	0.0488718952172366	0.14785	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.89	4.0	0.45673	5.256000	0.65286	7.378000	0.58437	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.238000	0.22948	0.0803:0.0:0.9197:0.0	12.765	0.56763	946	0.12043	Helicase, C-terminal;Helicase, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1812.98	36	chr12	124967176	.	G	A	1812.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.112;DP=896;ExcessHet=0.0000;FS=1.363;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=1.06;SOR=0.545	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,109,1475	20	0	1	0
chr12	125350246	125350246	G	T	exonic	TMEM132B	.	nonsynonymous SNV	TMEM132B:NM_001366854:exon2:c.G862T:p.V288F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.603	P	0.387	B	.	.	1.000	N	1.18	L	2.67	T	-1.046	T	0.029	T	0.411	1.335	10.38	4.45	1.250	1.647	7.688	0.123	0.00907658507813	.	.	4.177e-05	0	0	0	0	7.561e-05	0	0	3.23e-05	5	154602	rs775660946	4.104e-06	4.104e-06	2.722e-06	5.5e-06	0.0002	1.48e-06	9.7e-07	8.4e-07	5.7e-07	0	0	0	0	0	0.0002	3.597e-06	1.656e-05	0	6.567e-06	6.562e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.192	0.20988	T	0.221	0.25827	T	0.603	0.39389	P	0.387	0.44046	B	.	.	.	.	1	0.08975	N	2.475	0.71894	M	2.67	0.12473	T	-1.38	0.34198	N	0.454	0.49146	-1.0459	0.15563	T	0.029	0.12497	T	9	0.20778692	0.37086	T	0.009077	0.23893	T	0.123	0.34020	0.584	0.71118	0.119812018005	0.11559	0.49556645676764133	0.49477	0.699425841073	0.61035	0.403794020414	0.25597	T	0.022707	0.17460	T	-0.282943	0.10358	T	-0.458301	0.26785	T	0.132369201450185	0.15599	T	0.875013	0.58582	D	0.096587874	0.22752	0.08939376	0.20903	0.096587874	0.22751	0.08939376	0.20902	-5.391	0.40833	T	.	.	0.125	0.26325	B	.	.	3.247273	0.44348	21.9	0.98386049980500956	0.40905	0.27686	0.23346	N	AEFBI	0.170737	0.29766	N	-0.399471139746125	0.25488	1.383953	-0.416774904133621	0.24505	1.342234	0.095013297292219	0.16218	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.34	4.45	0.53365	2.121000	0.41601	9.784000	0.81612	0.676000	0.76740	0.180000	0.24064	1.000000	0.68203	0.883000	0.42306	0.1465:0.1345:0.7191:0.0	7.688	0.27718	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1331.98	33	chr12	125350246	.	G	T	1331.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.82;DP=927;ExcessHet=0.0000;FS=2.129;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.19;ReadPosRankSum=-3.250e-01;SOR=0.534	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr12	125519543	125519543	T	C	exonic	TMEM132B	.	nonsynonymous SNV	TMEM132B:NM_001366854:exon4:c.T1211C:p.I404T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.003	B	0.006	B	0.098	U	1.000	N	0	N	2.62	T	-0.993	T	0.015	T	0.06	0.825	8.323	-5.54	-0.364	-0.239	2.945	0.016	0.00395517199691	8.3e-05	.	3.312e-05	0	0	0	0	5.994e-05	0	0	2.59e-05	4	154602	rs373875024	4.241e-05	4.241e-05	3.811e-05	4.675e-05	5.216e-05	3.376e-05	3.065e-05	4.091e-05	3.741e-05	0	2.236e-05	0	0	0	0	5.216e-05	3.312e-05	1.159e-05	1.972e-05	1.97e-05	3.855e-05	0	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.94e-05	0	0	0.371	0.11514	T	0.357	0.17115	T	0.003	0.11197	B	0.006	0.12133	B	0.098190	0.02522	U	3.330090	1	0.08975	N	0.345	0.11182	N	2.62	0.12988	T	0.97	0.01467	N	0.205	0.22742	-0.9926	0.31933	T	0.015	0.05946	T	10	0.031970024	0.01340	T	0.003955	0.09337	T	0.016	0.02506	.	.	0.0806252709748	0.07271	0.29373704644857	0.29286	0.312351523902	0.33537	0.300007760525	0.10402	T	0.017951	0.14556	T	-0.409048	0.02017	T	-0.761699	0.03052	T	0.0336042419075966	0.02571	T	0.665433	0.27458	T	0.049560156	0.08819	0.04460022	0.05816	0.049560156	0.08819	0.04460022	0.05816	-2.159	0.03846	T	.	.	0.050	0.00133	B	.	.	0.769096	0.11391	8.003	0.78005762392280487	0.12115	0.03756	0.09064	N	AEFGBCI	0.037157	0.05064	N	-1.15555404233323	0.05689	0.2600033	-1.15984086535435	0.06592	0.3178695	0.243469159317833	0.18598	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	4.94	-5.54	0.02343	-0.224000	0.09169	-4.582000	0.02084	0.647000	0.52776	0.000000	0.06391	0.000000	0.08366	0.984000	0.60418	0.1798:0.1758:0.4814:0.163	2.945	0.05484	922	0.19044	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1261.98	35	chr12	125519543	.	T	C	1261.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.058e+00;DP=861;ExcessHet=0.0000;FS=7.323;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.85;ReadPosRankSum=-1.225e+00;SOR=0.335	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1480	20	0	1	0
chr12	125653605	125653605	C	T	exonic	TMEM132B	.	nonsynonymous SNV	TMEM132B:NM_001286219:exon5:c.C668T:p.S223L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.854	P	0.242	B	0.020	N	1.000	D	2.285	M	2.49	T	-1.087	T	0.050	T	0.761	2.914	15.71	5.55	2.612	5.789	19.501	0.251	0.0155138196393	.	.	3.339e-05	0	0	0.0001	0	1.512e-05	0	0.0001	2.59e-05	4	154602	rs760140118	5.411e-05	5.404e-05	5.176e-05	5.648e-05	0.0016	4.416e-05	4.087e-05	0.0013	0.0011	5.98e-05	0	0	0.0016	0	0	7.204e-06	1.658e-05	6.962e-05	4.6e-05	4.597e-05	7.71e-05	1.345e-05	0.0002	2.109e-05	1.527e-05	1.92e-05	1.032e-05	7.24e-05	0	6.543e-05	0	0.0002	0	0	2.94e-05	0	0	0.002	0.72154	D	0.011	0.64786	D	0.854	0.47077	P	0.242	0.38699	B	0.020004	0.27133	N	0.321128	0.999988	0.54805	D	3.105	0.87672	M	2.49	0.14531	T	-4.4	0.77308	D	0.623	0.68342	-1.0873	0.05995	T	0.050	0.21378	T	10	0.35027677	0.51903	T	0.015514	0.36282	T	0.251	0.56024	0.407	0.44066	0.128392430309	0.12331	0.5182048806584251	0.51743	0.573191580982	0.53386	0.597856462002	0.52601	T	0.202577	0.56079	T	-0.134741	0.30732	T	-0.130998	0.60888	T	0.699916243553162	0.40715	D	0.925008	0.76795	D	0.35189694	0.57214	0.44796294	0.67857	0.35189694	0.57214	0.44796294	0.67858	-6.32	0.48880	T	.	.	0.122	0.29088	B	.;.	.;.	3.465692	0.48328	22.6	0.99700445952281014	0.80591	0.95532	0.65096	D	AEFI	0.545069	0.55973	D	0.395343004220153	0.61168	4.314463	0.400333502277198	0.61584	4.360788	0.99956237555468	0.40425	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.564101	0.26826	0	.	.	5.55	5.55	0.83298	5.903000	0.69616	3.885000	0.40262	0.599000	0.40250	0.998000	0.41325	0.913000	0.28170	0.998000	0.85391	0.0:1.0:0.0:0.0	19.501	0.95085	938	0.14419	Transmembrane protein family 132, middle domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1416.98	37	chr12	125653605	.	C	T	1416.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=798;ExcessHet=0.0000;FS=0.753;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=1.02;SOR=0.840	GT:AD:DP:GQ:PL	0/1:52,57:109:99:1431,0,1235	20	0	1	0
chr12	125654210	125654210	C	A	exonic	TMEM132B	.	nonsynonymous SNV	TMEM132B:NM_001286219:exon5:c.C1273A:p.L425M	.	.	433	1032	57	0	0	57	0.0268741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.996	D	0.000	D	1.000	D	1.855	L	1.72	T	-1.049	T	0.084	T	0.61	2.968	15.89	-0.724	-0.037	0.044	10.385	0.165	.	0.0062	0.0115815	0.0115	0.0015	0.0079	0.0001	0.0006	0.0072	0.0111	0.0476	0.0106079	1640	154602	rs61940807	0.0094	0.0094	0.0083	0.0105	0.0426	0.0092	0.0092	0.0414	0.0410	0.0016	0.0070	0.0057	7.557e-05	0.0007	0.0161	0.0079	0.0092	0.0426	0.0064	0.0064	0.0060	0.0068	0.0422	0.0060	0.0059	0.0375	0.0357	0.0014	0.0033	0.0081	0.0043	0.0002	9.413e-05	0.0068	0.0081	0.0071	0.0422	0.011	0.55530	D	0.011	0.64786	D	1.0	0.90584	D	0.996	0.84481	D	0.000254	0.46924	D	0.000000	0.999782	0.49076	D	2.995	0.85803	M	1.72	0.26588	T	-1.69	0.40274	N	0.133	0.18920	-1.0491	0.14649	T	0.084	0.32900	T	10	0.0061185956	0.00138	T	.	.	.	0.165	0.42395	.	.	.	.	0.7177398300703923	0.71716	0.578337520646	0.53735	0.835967540741	0.87479	D	0.233202	0.59995	T	-0.408305	0.02040	T	-0.326422	0.41865	T	0.0753760093020155	0.09385	T	0.772923	0.48860	T	0.15482831	0.35023	0.1645731	0.38116	0.15482831	0.35023	0.1645731	0.38115	-8.98	0.67568	D	.	.	0.158	0.35034	B	.;.	.;.	1.996945	0.25370	16.74	0.99494354494424719	0.67630	0.35415	0.25296	N	AEFI	0.202736	0.32930	N	-0.00257369934828527	0.41739	2.502031	-0.172327550528987	0.32559	1.853576	1.20154442700449E-4	0.05269	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.43	-0.724	0.10613	0.058000	0.14178	-0.197000	0.10982	0.599000	0.40250	0.049000	0.21372	0.000000	0.08366	0.975000	0.56047	0.0:0.1871:0.0:0.8129	10.385	0.43319	936	0.14734	Transmembrane protein TMEM132, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2128.98	37	chr12	125654210	.	C	A	2128.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.001e+00;DP=906;ExcessHet=0.0000;FS=1.699;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.19;ReadPosRankSum=0.439;SOR=0.576	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1259	20	0	1	0
chr12	128267422	128267422	C	G	exonic	TMEM132C	.	nonsynonymous SNV	TMEM132C:NM_001136103:exon1:c.C20G:p.A7G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	.	.	.	.	.	.	1.000	N	0	N	3.61	T	-0.917	T	0.010	T	0.259	2.257	13.50	3.0	1.502	1.343	9.325	0.044	0.0625349253778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.849e-06	4.789e-06	1.772e-06	1.933e-06	0.0004	3.1e-07	1.2e-07	.	.	0	0	0	4.062e-05	0	0.0004	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.207	0.26969	T	.	.	.	.	.	.	.	.	.	.	0.994738	0.23454	N	0	0.06538	N	3.61	0.04446	T	-0.4	0.13805	N	0.267	0.30233	-0.9169	0.45971	T	0.010	0.03537	T	7	0.17197767	0.31946	T	0.062535	0.68682	D	0.044	0.11924	0.18	0.08751	0.043077524339	0.03247	0.220772129233006	0.21992	0.0923751773083	0.10425	0.842741549015	0.88512	D	0.001164	0.00668	T	-0.221468	0.17794	T	-0.5559	0.16763	T	0.607445186159178	0.36698	D	0.385761	0.09460	T	0.14942037	0.34066	0.19410543	0.43016	0.14942037	0.34066	0.19410543	0.43015	-3.589	0.17698	T	.	.	0.129	0.27672	B	.	.	2.629220	0.34189	19.56	0.97002998031765997	0.31953	0.68677	0.33893	D	AEFDBI	0.063015	0.12150	N	-0.128770615228064	0.36143	2.085215	-0.0660268178758346	0.36804	2.146613	0.781918928904265	0.23858	0.569682	0.32691	0	0.657636	0.61667	0	0.606814	0.37721	0	0.562822	0.20929	0	.	.	3.0	3.0	0.33773	1.009000	0.29487	1.692000	0.28077	-1.146000	0.01433	1.000000	0.71638	0.966000	0.29516	0.379000	0.26312	0.0:1.0:0.0:0.0	9.325	0.37148	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	102.04	11	chr12	128267422	.	C	G	102.04	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.803e+00;DP=277;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0283;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=-9.920e-01;SOR=0.582	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,558	20	0	1	0
chr12	128544097	128544097	G	A	exonic	TMEM132C	.	nonsynonymous SNV	TMEM132C:NM_001136103:exon3:c.G1115A:p.R372H,	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.477	P	0.048	B	.	.	0.899	N	1.5	L	2.55	T	-1.060	T	0.028	T	0.182	1.878	12.24	2.87	0.514	1.833	10.796	0.016	0.00789856746837	.	.	0.0002	0	0	0	0	0.0004	0	0	3.23e-05	5	154602	rs759264452	0.0001	0.0001	0.0001	9.845e-05	0.0006	9.073e-05	8.512e-05	0.0002	9.962e-05	3.234e-05	3.032e-05	0	2.871e-05	0	0.0006	0.0001	0.0001	0	8.535e-05	8.53e-05	5.14e-05	0.0001	0.0001	4.953e-05	3.96e-05	6.803e-05	5.087e-05	2.405e-05	0	6.53e-05	0	0	0	0	0.0001	0.0009	0	0.473	0.08408	T	0.098	0.39040	T	0.477	0.36687	P	0.048	0.24975	B	.	.	.	.	0.999905	0.27743	N	2.045	0.56016	M	2.55	0.13795	T	-1.12	0.28906	N	0.15	0.15328	-1.0605	0.11632	T	0.028	0.12190	T	9	0.098647475	0.17850	T	0.007899	0.20955	T	0.016	0.02506	.	.	0.043077524339	0.03247	0.23150915692542706	0.23065	0.117901996742	0.13276	0.474954485893	0.35363	T	0.011932	0.10575	T	-0.445068	0.01207	T	-0.612657	0.11770	T	0.0853243097662926	0.10653	T	0.729627	0.34527	T	0.055220716	0.10703	0.06863291	0.14357	0.055220716	0.10703	0.06863291	0.14357	-4.683	0.33197	T	.	.	0.090	0.12512	B	.	.	1.688914	0.21521	15.23	0.98513663369059412	0.42374	0.43868	0.27193	N	AEFDI	0.145977	0.26932	N	-0.378208458605597	0.26246	1.431014	-0.405682532619365	0.24830	1.361922	0.0011071197150348	0.08228	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	4.71	2.87	0.32523	2.080000	0.41211	-0.001000	0.13204	0.676000	0.76740	0.945000	0.32849	0.000000	0.08366	0.400000	0.26782	0.1546:0.0:0.8454:0.0	10.796	0.45663	993	0.01300	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	3219.66	34	chr12	128544097	.	G	A	3219.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.793e+00;DP=893;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=23.50;ReadPosRankSum=0.057;SOR=0.624	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,114,1710	19	1	1	0
chr12	128693988	128693988	C	A	exonic	TMEM132C	.	nonsynonymous SNV	TMEM132C:NM_001136103:exon6:c.C1609A:p.L537I,	.	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.96	M	0.33	T	0.094	D	0.467	T	0.804	4.675	25.8	5.0	2.318	5.762	18.315	0.344	0.0459646022109	0.0015	0.000998403	0.0005	0.0005	0	0	0	0.0011	0	0	0.000304	47	154602	rs191481498	0.0016	0.0015	0.0016	0.0015	0.0019	0.0015	0.0015	0.0018	0.0018	0.0003	0.0004	3.971e-05	0	0.0003	0.0009	0.0019	0.0012	3.786e-05	0.0011	0.0011	0.0011	0.0011	0.0018	0.0010	0.0009	0.0015	0.0014	0.0002	0	0.0018	0	0	0.0005	0	0.0017	0.0038	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000111	0.50451	D	0.000000	1	0.81001	D	3.21	0.89262	M	0.33	0.58323	T	-1.9	0.44284	N	0.731	0.73195	0.094	0.84063	D	0.467	0.79438	T	10	0.086662054	0.14752	T	0.045965	0.62234	D	0.344	0.66582	.	.	0.606269656155	0.60311	0.4843657721158751	0.48356	0.511025381383	0.49196	0.636266589165	0.58035	T	0.196116	0.55240	T	-0.111219	0.34567	T	0.0602015	0.74257	D	0.110051775539562	0.13429	T	0.999655	0.99877	D	0.59884	0.72629	0.51621604	0.72047	0.59884	0.72630	0.51621604	0.72048	-10.213	0.75176	D	.	.	0.431	0.61234	A	.	.	4.559583	0.71841	25.7	0.99548516920856822	0.70961	0.92706	0.56347	D	AEFDHCI	0.802031	0.72757	D	0.80048369380524	0.86136	8.789569	0.733532315730937	0.84923	8.429505	0.999966088321351	0.48965	0.65861	0.49226	0	0.615948	0.52940	0	0.725225	0.93170	0	0.564101	0.26826	0	.	.	5.0	5.0	0.66209	5.846000	0.69165	7.519000	0.59733	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:1.0:0.0:0.0	18.315	0.90156	994	0.00715	Transmembrane protein family 132, middle domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1738.98	35	chr12	128693988	.	C	A	1738.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.145e+00;DP=812;ExcessHet=0.0000;FS=1.859;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.93;ReadPosRankSum=0.566;SOR=0.463	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1120	20	0	1	0
chr12	128697353	128697353	G	A	exonic	TMEM132C	.	nonsynonymous SNV	TMEM132C:NM_001136103:exon8:c.G2059A:p.E687K,	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.692	P	0.295	B	0.026	N	0.769	N	1.445	L	2.58	T	-1.101	T	0.034	T	0.114	2.540	14.45	3.22	0.838	5.238	12.302	0.115	0.00824123506097	.	.	5.039e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs779216390	2.144e-05	2.189e-05	1.692e-05	2.609e-05	0.0004	1.521e-05	1.32e-05	6.163e-05	2.854e-05	0	0	0	0	0	0.0004	1.298e-05	0.0001	8.84e-05	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.012	0.54683	D	0.005	0.72224	D	0.692	0.41662	P	0.295	0.40843	B	0.025686	0.26045	N	0.312805	0.768981	0.29458	N	1.725	0.44537	L	2.58	0.13434	T	-0.72	0.20358	N	0.131	0.12627	-1.1009	0.03984	T	0.034	0.14421	T	10	0.1711385	0.31816	T	0.008241	0.21827	T	0.115	0.32236	0.409	0.44395	0.043077524339	0.03247	0.5204736448152206	0.51970	0.130942968219	0.14771	0.378351092339	0.22021	T	0.007414	0.06818	T	-0.44197	0.01259	T	-0.582493	0.14323	T	0.197257682681084	0.20264	T	0.644036	0.25562	T	0.15819241	0.35603	0.10350988	0.24836	0.15819241	0.35603	0.10350988	0.24836	-5.236	0.39305	T	.	.	0.094	0.14431	B	.	.	3.506355	0.49079	22.7	0.99808402544042008	0.89264	0.94891	0.62688	D	AEFBI	0.510581	0.53957	D	-0.175045045918734	0.34176	1.947558	-0.223878022336323	0.30683	1.729679	0.148692594384734	0.17402	0.638212	0.43195	0	0.610034	0.51514	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	4.12	3.22	0.36041	5.608000	0.67336	7.176000	0.57738	0.618000	0.50648	1.000000	0.71638	0.999000	0.35428	0.682000	0.33600	0.0848:0.0:0.9152:0.0	12.302	0.54197	994	0.00715	Transmembrane protein family 132, middle domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1437.98	38	chr12	128697353	.	G	A	1437.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=933;ExcessHet=0.0000;FS=1.413;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.06;ReadPosRankSum=1.11;SOR=0.880	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr12	128815054	128815054	G	A	exonic	SLC15A4	.	nonsynonymous SNV	SLC15A4:NM_145648:exon2:c.C563T:p.P188L,	.	.	433	1073	15	1	0	17	0.00785945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.995	D	0.781	P	0.000	D	1.000	D	2.5	M	3.66	T	-1.144	T	0.043	T	0.429	4.415	23.4	4.74	1.333	6.996	14.921	0.214	0.0318144051753	0.0009	0.00139776	0.0019	0.0001	0.0004	0.0001	0	0.0020	0.0045	0.0054	0.0016882	261	154602	rs144816528	0.0013	0.0014	0.0011	0.0016	0.0066	0.0013	0.0013	0.0056	0.0054	0.0002	0.0010	0.0026	0	1.878e-05	0.0066	0.0011	0.0015	0.0060	0.0013	0.0013	0.0013	0.0013	0.0069	0.0012	0.0011	0.0050	0.0044	0.0003	0	0.0022	0.0032	0	0	0.0068	0.0016	0.0005	0.0069	0.122	0.27663	T	0.056	0.46632	T	0.995	0.67487	D	0.781	0.57337	P	0.000000	0.84330	D	0.049858	1	0.81001	D	2.505	0.72935	M	3.66	0.04228	T	-5.53	0.86073	D	0.523	0.55280	-1.1444	0.01202	T	0.043	0.18368	T	10	0.011609405	0.00253	T	0.031814	0.53806	D	0.214	0.50650	.	.	0.537448724652	0.53396	0.7007468417578417	0.70015	1.01471025542	0.74896	0.749294996262	0.74342	T	0.212984	0.57418	T	-0.432594	0.01430	T	-0.391833	0.34337	T	0.0400950152124888	0.03707	T	0.945705	0.79334	D	0.5231945	0.68443	0.64855677	0.79443	0.5231945	0.68444	0.64855677	0.79444	-10.446	0.76537	D	.	.	0.223	0.45396	B	.	.	4.698475	0.75353	26.3	0.99824457386087739	0.90677	0.94211	0.60451	D	AEFBCI	0.788367	0.71787	D	0.658871248472649	0.76944	6.580729	0.620955765108923	0.76465	6.495757	0.999999998996771	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.65	4.74	0.59717	7.192000	0.77301	5.720000	0.49467	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.897000	0.43391	0.0:0.0:0.8557:0.1443	14.921	0.70484	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	394.98	33	chr12	128815054	.	G	A	394.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=758;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.78;ReadPosRankSum=2.00;SOR=0.558	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr12	128823720	128823720	C	G	exonic	SLC15A4	.	nonsynonymous SNV	SLC15A4:NM_145648:exon1:c.G224C:p.S75T,	.	.	430	1067	25	0	0	25	0.0115794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.911	P	0.288	B	0.000	D	1.000	D	1.045	L	0.2	T	-0.817	T	0.130	T	0.361	3.076	16.27	3.09	1.699	1.666	13.368	0.185	.	.	0.00359425	0.0143	0.0064	0.0084	0	0.016	0.0058	0.0179	0.0260	0.0026132	404	154602	rs201649968	0.0022	0.0022	0.0015	0.0029	0.0210	0.0021	0.0021	0.0201	0.0198	3.364e-05	0.0011	0.0006	0	0.0024	0.0050	0.0010	0.0022	0.0210	0.0018	0.0018	0.0013	0.0024	0.0217	0.0017	0.0016	0.0184	0.0171	0.0002	0	0.0024	0.0014	0	0.0018	0	0.0015	0.0019	0.0217	0.134	0.26300	T	0.123	0.35582	T	0.911	0.50336	P	0.288	0.40614	B	0.000000	0.84330	D	0.000000	0.999714	0.48481	D	1.555	0.39373	L	0.2	0.60111	T	-1.18	0.30140	N	0.252	0.28498	-0.8165	0.54152	T	0.130	0.44069	T	10	0.0073561072	0.00167	T	.	.	.	0.185	0.45933	.	.	0.392702134506	0.38879	0.6876022654233038	0.68700	0.529414267357	0.50504	0.824750304222	0.85758	D	0.071165	0.34140	T	-0.385233	0.02886	T	-0.310541	0.43601	T	0.0739109782447091	0.09190	T	0.676232	0.28483	T	0.51580954	0.68018	0.5467352	0.73798	0.51580954	0.68019	0.5467352	0.73798	-4.578	0.31894	T	.	.	0.296	0.52704	B	.	.	3.217596	0.43821	21.8	0.9841235525098363	0.41191	0.22350	0.21717	N	ALL	0.232192	0.35530	N	0.055181691611221	0.44380	2.71323	0.0655389519096878	0.42828	2.597491	0.999999999999998	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	3.09	3.09	0.34677	1.335000	0.33444	5.223000	0.48006	0.462000	0.21616	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	13.368	0.60139	994	0.00715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2838.98	38	chr12	128823720	.	C	G	2838.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.498;DP=1007;ExcessHet=0.0000;FS=0.482;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=-3.360e-01;SOR=0.654	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr12	128823864	128823875	GCCGCCGCCGCG	-	exonic	SLC15A4	.	nonframeshift deletion	SLC15A4:NM_145648:exon1:c.69_80del:p.A24_A27del,	.	.	460	1054	6	0	2	8	0.00283822	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878946519	0.0004	0.0003	0.0003	0.0004	0.0053	0.0003	0.0003	0.0044	0.0041	0.0012	0	0.0003	0.0015	0	0.0009	0.0002	0.0006	0.0053	0.0008	0.0008	0.0006	0.0011	0.0077	0.0007	0.0007	0.0058	0.0051	0.0011	0	0.0005	0.0003	0.0012	0	0	0.0003	0.0010	0.0077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	903.94	25	chr12	128823863	.	AGCCGCCGCCGCG	A	903.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.940e+00;DP=754;ExcessHet=0.0000;FS=8.400;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=27.39;ReadPosRankSum=-2.950e-01;SOR=0.053	GT:AD:DP:GQ:PL	0/0:35,0:35:75:0,75,1125	20	0	1	0
chr12	128914983	128914983	C	T	exonic	GLT1D1	.	nonsynonymous SNV	GLT1D1:NM_001366887:exon5:c.C337T:p.R113C	.	.	434	1081	6	1	0	8	0.00368664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.042	B	0.004	B	.	.	1.000	N	.	.	-1.29	T	-0.797	T	0.280	T	0.198	1.194	9.852	0.621	0.170	0.004	3.357	0.123	0.0588680807464	.	0.00159744	0.0038	0.0018	0	0	0	0.0036	0	0.0043	0.0008861	137	154602	rs79317403	0.0036	0.0034	0.0035	0.0036	0.0040	0.0035	0.0035	0.0039	0.0039	0.0004	0.0011	0.0010	5.599e-05	0.0018	0.0019	0.0040	0.0032	0.0037	0.0024	0.0024	0.0023	0.0025	0.0037	0.0022	0.0021	0.0034	0.0032	0.0005	0	0.0020	0.0017	0.0002	0.0031	0	0.0037	0.0028	0.0029	0.055	0.40832	T	0.131	0.36630	T	0.042	0.21471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.95	0.52479	M	-1.29	0.79475	T	-1.88	0.45949	N	0.151	0.18239	-0.7969	0.55327	T	0.280	0.65159	T	8	0.0048719943	0.00104	T	0.058868	0.67466	D	0.123	0.34020	.	.	0.132336055621	0.12781	.	.	.	.	.	.	.	0.023808	0.18107	T	-0.452971	0.01085	T	-0.419712	0.31107	T	0.00372698561778221	0.00039	T	0.743426	0.36288	T	0.068533234	0.14937	0.048810787	0.07329	0.068533234	0.14937	0.048810787	0.07328	-5.176	0.38697	T	.	.	0.071	0.09094	B	.;.	.;.	1.168331	0.15580	11.95	0.91454915598856867	0.20725	0.14231	0.18293	N	AEFDGBHCI	0.072715	0.14521	N	-1.00069423350754	0.08589	0.4033189	-1.05438465293318	0.08616	0.4244913	0.999688917972607	0.41756	0.487112	0.14033	0	0.68618	0.66647	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.05	0.621	0.16817	0.016000	0.13272	-1.896000	0.04535	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2226:0.4663:0.0:0.311	3.357	0.06754	994	0.00715	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1345.98	34	chr12	128914983	.	C	T	1345.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.080e-01;DP=830;ExcessHet=0.0000;FS=0.638;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.20;ReadPosRankSum=0.781;SOR=0.758	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1064	20	0	1	0
chr12	129074683	129074683	G	A	exonic	TMEM132D	.	nonsynonymous SNV	TMEM132D:NM_133448:exon9:c.C2492T:p.S831L,	.	.	424	1039	58	1	0	60	0.0280636	.	.	702224	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.086	N	1.000	N	-0.69	N	3.72	T	-1.001	T	0.007	T	0.06	-2.185	0.005	-2.15	-0.525	-0.083	0.365	0.025	.	0.0065	0.00239617	0.0077	0.0013	0.0063	0	0.0074	0.0104	0.0132	0.0056	0.0074967	1159	154602	rs140762080	0.0084	0.0084	0.0083	0.0084	0.0534	0.0082	0.0082	0.0485	0.0466	0.0024	0.0068	0.0300	2.519e-05	0.0068	0.0534	0.0083	0.0102	0.0062	0.0069	0.0070	0.0070	0.0069	0.0090	0.0066	0.0065	0.0084	0.0082	0.0020	0	0.0075	0.0251	0.0002	0.0082	0.0578	0.0090	0.0128	0.0062	0.636	0.05452	T	0.465	0.12421	T	0.0	0.02946	B	0.0	0.01387	B	0.086311	0.02407	N	1.932640	1	0.08975	N	-1.21	0.00826	N	2.93	0.09822	T	-0.43	0.17834	N	0.048	0.01999	-1.0013	0.29545	T	0.007	0.02360	T	9	0.005143881	0.00112	T	.	.	.	0.025	0.05312	.	.	0.043077524339	0.03247	0.15545238082319554	0.15466	0.210139789538	0.23496	0.204422041774	0.00596	T	0.004765	0.04174	T	-0.732468	0.00023	T	-0.817667	0.01500	T	0.000768673486481051	0.00007	T	0.107489	0.00805	T	0.028566381	0.02214	0.021326654	0.00188	0.028566381	0.02214	0.021326654	0.00188	-4.989	0.36720	T	.	.	0.054	0.00375	B	.;.	.;.	0.246131	0.06257	2.713	0.12776534085229038	0.00232	0.01860	0.05742	N	AEFBI	0.059169	0.11156	N	-1.48779133580879	0.01936	0.08496802	-1.48934994486925	0.02431	0.1117993	2.7351116049582E-5	0.03498	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.2	-2.15	0.06705	0.051000	0.14025	-0.599000	0.08280	-0.531000	0.04959	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3823:0.2003:0.2121:0.2054	0.365	0.00345	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	5278.11	33	chr12	129074683	.	G	A	5278.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.048;DP=1192;ExcessHet=0.1072;FS=4.047;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=1.89;SOR=0.742	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1018	19	0	2	0
chr12	129074806	129074806	G	A	exonic	TMEM132D	.	nonsynonymous SNV	TMEM132D:NM_133448:exon9:c.C2369T:p.T790M,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.995	D	0.809	P	0.002	N	1.000	N	2.015	M	2.53	T	-1.088	T	0.062	T	0.247	-0.791	0.701	4.2	2.033	1.613	7.774	0.065	0.0116475414448	.	0.000199681	7.413e-05	0	8.637e-05	0.0001	0	1.498e-05	0	0.0004	7.12e-05	11	154602	rs542438666	4.036e-05	4.036e-05	4.628e-05	3.438e-05	0.0001	3.178e-05	2.91e-05	6.246e-05	4.757e-05	0	8.944e-05	0	2.519e-05	0	0	3.687e-05	4.967e-05	0.0001	4.6e-05	4.594e-05	5.143e-05	4.033e-05	0.0004	2.109e-05	1.527e-05	7.315e-05	3.038e-05	2.409e-05	0	6.543e-05	0	0	0	0	4.41e-05	0	0.0004	0.232	0.18246	T	0.39	0.15506	T	0.532	0.67487	P	0.08	0.58564	B	0.001551	0.38671	N	0.206643	1	0.08975	N	2.52	0.73523	M	2.53	0.14038	T	-1.27	0.37759	N	0.191	0.21056	-1.0877	0.05925	T	0.062	0.25672	T	9	0.055736035	0.06139	T	0.011648	0.29486	T	0.065	0.18881	0.341	0.33302	0.117191471859	0.11215	0.35542534552833716	0.35456	0.597061582168	0.54914	0.536660790443	0.43974	T	0.01098	0.09851	T	-0.415938	0.01816	T	-0.539051	0.18389	T	0.189735278487206	0.19828	T	0.454055	0.45238	T	0.034039885	0.03743	0.06345408	0.12572	0.034039885	0.03743	0.06345408	0.12571	-5.145	0.41255	T	.	.	0.075	0.05491	B	.;.	.;.	2.867023	0.37901	20.6	0.42275651951550053	0.03105	0.39158	0.26150	N	AEFBI	0.101890	0.20453	N	-0.0886962222585448	0.37886	2.210829	-0.182918229158849	0.32164	1.827188	2.23968697445346E-4	0.06048	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.2	4.2	0.48814	1.181000	0.31626	2.965000	0.35773	0.676000	0.76740	0.615000	0.27871	0.988000	0.31051	0.288000	0.24212	0.0934:0.1798:0.7268:0.0	7.774	0.28191	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1633.98	33	chr12	129074806	.	G	A	1633.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.006e+00;DP=1062;ExcessHet=0.0000;FS=1.399;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.47;ReadPosRankSum=-1.233e+00;SOR=0.538	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1018	20	0	1	0
chr12	129903305	129903305	T	A	exonic	TMEM132D	.	nonsynonymous SNV	TMEM132D:NM_133448:exon1:c.A35T:p.H12L,	.	.	429	1061	28	3	1	35	0.0157699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.001	B	0.122	N	1.000	N	-0.895	N	3.89	T	-0.953	T	0.002	T	0.141	0.122	4.656	-4.27	-0.792	0.050	0.934	0.037	.	0.0062	0.00539137	0.0099	0.0015	0.0023	0.0016	0.0238	0.0092	0.0105	0.0144	0.0041203	637	154602	rs142888394	0.0101	0.0099	0.0100	0.0103	0.0144	0.0100	0.0099	0.0137	0.0134	0.0014	0.0040	0.0019	0	0.0066	0.0072	0.0110	0.0093	0.0144	0.0064	0.0064	0.0069	0.0060	0.0114	0.0061	0.0060	0.0095	0.0092	0.0018	0	0.0052	0.0006	0.0004	0.0057	0.0068	0.0101	0.0061	0.0114	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.121962	0.18974	N	0.452778	0.999993	0.08975	N	-0.69	0.01958	N	3.89	0.03544	T	-0.41	0.14000	N	0.121	0.11197	-0.9532	0.40416	T	0.002	0.00676	T	9	0.0027821362	0.00044	T	.	.	.	0.037	0.09474	.	.	0.043077524339	0.03247	0.45197660202093237	0.45115	0.293656750439	0.31782	0.574056863785	0.49250	T	0.002835	0.02227	T	-0.674789	0.00051	T	-0.730388	0.04310	T	0.000752514955551363	0.00007	T	0.306369	0.05889	T	0.09347234	0.21955	0.026087241	0.00681	0.09347234	0.21955	0.026087241	0.00681	-1.391	0.01555	T	.	.	0.052	0.00220	B	.	.	0.835830	0.12076	8.628	0.84902657149399108	0.15566	0.04191	0.09695	N	AEFDBHCI	0.028112	0.02415	N	-1.18063007958765	0.05293	0.2409575	-1.1311354264033	0.07111	0.3447007	0.999996201678762	0.74766	0.789315	0.99827	0	0.573888	0.26702	0	0.768056	0.98339	0	0.564101	0.26826	0	.	.	5.2	-4.27	0.03486	-0.052000	0.11821	-0.650000	0.08033	0.605000	0.46263	0.030000	0.20431	0.000000	0.08366	0.996000	0.76049	0.4633:0.173:0.1254:0.2384	0.934	0.01256	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1336.11	34	chr12	129903305	.	T	A	1336.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.26;DP=800;ExcessHet=0.1072;FS=2.158;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.75;ReadPosRankSum=1.67;SOR=0.592	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	19	0	2	0
chr12	130163155	130163155	C	G	exonic	FZD10	.	nonsynonymous SNV	FZD10:NM_007197:exon1:c.C213G:p.F71L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.985	D	0.000	U	1.000	D	1.82	L	-1.22	T	-0.695	T	0.235	T	0.824	1.049	9.283	3.51	0.825	0.800	7.768	0.156	0.0413076824453	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.997	0.70673	D	0.985	0.76457	D	0.000000	0.84330	U	0.000000	0.999997	0.58761	D	2.79	0.81396	M	-1.22	0.78752	T	-4.8	0.80682	D	0.878	0.87590	-0.6945	0.60698	T	0.235	0.60148	T	10	0.9503354	0.94367	D	0.041308	0.59855	D	0.716	0.89922	0.836	0.94356	0.460438652622	0.45667	0.8062538426350291	0.80580	.	.	0.915031373501	0.97923	D	0.759245	0.93465	D	0.24364	0.78005	D	0.112196	0.77719	D	0.985849738121033	0.76720	D	0.944206	0.78893	D	0.8386108	0.86509	0.83302987	0.90383	0.8386108	0.86511	0.83302987	0.90384	-8.297	0.63075	D	.	.	0.999	0.98383	P	.	.	4.225533	0.63950	24.6	0.91688038052130072	0.20980	0.92720	0.56381	D	AEFDGBHCI	0.723587	0.67316	D	0.124900864385968	0.47625	2.985714	0.134035430163778	0.46302	2.878361	0.999992082401012	0.74766	0.59774	0.34471	0	0.573888	0.26702	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.4	3.51	0.39297	0.764000	0.26197	3.832000	0.40000	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.7445:0.0:0.2555	7.768	0.28156	982	0.03397	Frizzled domain|Frizzled domain|Frizzled domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2596.98	45	chr12	130163155	.	C	G	2596.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.960e-01;DP=921;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=-2.220e-01;SOR=0.678	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1023	20	0	1	0
chr12	130397455	130397455	C	T	exonic	RIMBP2	.	nonsynonymous SNV	RIMBP2:NM_001351227:exon21:c.G3278A:p.S1093N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39397746	0.55093	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.483452	0.14697	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.35849	B	.	.	4.461572	0.69446	25.4	0.93486482953483174	0.23286	0.98257	0.80997	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.983559374578719	0.30578	0.162113	0.03585	0	0.18701	0.04157	0	0.060301	0.00762	0	0.057018	0.00518	0	0.986123	0.94097	5.97	5.97	0.96935	4.598000	0.60777	7.579000	0.60911	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.439	0.99109	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09091	37.22	58	chr12	130397455	.	C	T	37.22	.	AC=2;AF=0.091;AN=22;DP=58;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3374;MLEAC=2;MLEAF=0.091;MQ=60.00;QD=18.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,49	10	1	0	10
chr12	130437119	130437119	G	C	exonic	RIMBP2	.	nonsynonymous SNV	RIMBP2:NM_015347:exon11:c.C1778G:p.P593R	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.999	D	0.000	D	0.987	D	2.62	M	0.75	T	-0.526	T	0.225	T	0.349	1.672	11.55	2.64	0.332	3.914	10.555	0.183	0.143294494242	.	0.00119808	0.0007	0	0	0.0093	0	0	0.0019	0.0003	0.0004916	76	154602	rs2292664	0.0004	0.0004	0.0004	0.0004	0.0131	0.0004	0.0003	0.0121	0.0118	0	0	0	0.0131	0	0	9.128e-07	0.0002	0.0002	0.0002	0.0003	0.0002	0.0003	0.0071	0.0002	0.0002	0.0052	0.0046	0	0	0	0	0.0071	0	0	0	0	0.0002	0.001	0.78490	D	0.187	0.28764	T	1.0	0.90584	D	0.999	0.92359	D	0.000242	0.46924	D	0.142059	0.922021	0.40594	D	2.39	0.68882	M	0.75	0.50192	T	-3.02	0.62630	D	0.351	0.39254	-0.5262	0.67685	T	0.225	0.58881	T	10	0.0077821612	0.00177	T	0.143294	0.82562	D	0.183	0.45592	.	.	0.672161520982	0.66939	0.3965969653101858	0.39574	0.691092489446	0.60568	0.383977532387	0.22819	T	0.192949	0.54826	T	-0.398709	0.02361	T	-0.342326	0.40081	T	0.127147957180914	0.15116	T	0.845715	0.52486	T	0.22045465	0.44602	0.2046007	0.44591	0.22045465	0.44602	0.2046007	0.44590	-5.325	0.40190	T	.	.	0.107	0.22680	B	.;.;.	.;.;.	1.850008	0.23505	16.04	0.9973330801613971	0.82904	0.92541	0.55954	D	AEFDBCI	0.447456	0.50309	N	0.246863156066675	0.53482	3.517037	0.0592561765938687	0.42521	2.573328	3.85930225983454E-4	0.06781	0.638212	0.43195	0	0.670034	0.63936	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.49	2.64	0.30504	2.278000	0.43085	0.821000	0.21853	0.575000	0.29119	0.994000	0.38300	0.232000	0.23790	0.036000	0.13842	0.1601:0.0:0.8399:0.0	10.555	0.44301	994	0.00715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1855.98	34	chr12	130437119	.	G	C	1855.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.554e+00;DP=854;ExcessHet=0.0000;FS=0.604;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=-1.066e+00;SOR=0.636	GT:AD:DP:GQ:PL	0/1:66,83:149:99:1870,0,1545	20	0	1	0
chr12	130456574	130456574	C	G	exonic	RIMBP2	.	nonsynonymous SNV	RIMBP2:NM_015347:exon5:c.G229C:p.A77P	.	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.895	P	0.502	P	0.001	D	0.884	N	1.935	M	2.07	T	-1.057	T	0.062	T	0.331	0.981	9.004	3.26	0.704	2.637	8.572	0.083	0.00343772307036	0.0002	0.000399361	0.0005	9.733e-05	8.669e-05	0	0	0.0003	0.0034	0.0022	0.0003816	59	154602	rs201638148	0.0003	0.0003	0.0003	0.0004	0.0017	0.0003	0.0003	0.0015	0.0014	0	0.0002	7.657e-05	0	0	0.0009	0.0002	0.0005	0.0017	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0001	0.0010	0.0007	9.627e-05	0	6.534e-05	0	0	0	0	0.0003	0.0005	0.0019	0.037	0.43085	D	0.207	0.26969	T	0.895	0.49247	P	0.502	0.47702	P	0.000995	0.40743	D	0.166924	1	0.27994	N	2.36	0.67893	M	2.07	0.20387	T	-0.8	0.22078	N	0.371	0.41261	-1.0571	0.12491	T	0.062	0.25815	T	10	0.014695227	0.00309	T	0.003438	0.07755	T	0.083	0.24192	.	.	0.427024044652	0.42321	0.2062256065059655	0.20539	0.359462052903	0.37640	0.311935603619	0.12200	T	0.024769	0.18650	T	-0.470436	0.00845	T	-0.45531	0.27111	T	0.0248071840268435	0.01247	T	0.570643	0.20399	T	0.12527694	0.29371	0.1407031	0.33530	0.12527694	0.29371	0.1407031	0.33530	-2.8	0.08184	T	.	.	0.087	0.11317	B	.;.;.;.	.;.;.;.	1.668903	0.21281	15.13	0.97834097804482223	0.36279	0.81314	0.40744	D	AEFDBI	0.600301	0.59298	D	-0.0114164086729131	0.41337	2.470856	-0.133380780922016	0.34054	1.954644	1.86389875425032E-4	0.05844	0.638212	0.43195	0	0.670034	0.63936	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.18	3.26	0.36471	2.121000	0.41601	-0.426000	0.09253	0.595000	0.32841	0.963000	0.33788	0.000000	0.08366	0.045000	0.14751	0.1513:0.7648:0.0:0.0839	8.572	0.32733	991	0.01385	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1193.98	94	chr12	130456574	.	C	G	1193.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.685;DP=850;ExcessHet=0.0000;FS=2.783;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=1.44;SOR=1.018	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	20	0	1	0
chr12	130812996	130812996	T	C	exonic	STX2	.	nonsynonymous SNV	STX2:NM_001351049:exon4:c.A241G:p.I81V	.	.	796	723	3	0	0	3	0.00207039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.99	D	0.974	D	0.000	D	1.000	D	2.57	M	1.8	T	-0.892	T	0.156	T	0.307	4.100	21.1	4.26	1.916	4.633	12.655	0.131	0.00293128081234	0.0005	0.000399361	0.0007	0	0.0012	0	0	0.0008	0.0044	0.0007	0.0006209	96	154602	rs145834567	0.0004	0.0005	0.0004	0.0005	0.0069	0.0004	0.0004	0.0051	0.0045	3.341e-05	0.0010	0.0017	0	0	0.0069	0.0004	0.0007	0.0007	0.0011	0.0011	0.0011	0.0012	0.0008	0.0010	0.0009	0.0006	0.0006	4.808e-05	0.1077	0.0005	0.0017	0	0	0	0.0008	0	0.0002	0.043	0.41364	D	0.065	0.44702	T	0.99	0.63424	D	0.974	0.73157	D	0.000000	0.84330	D	0.000000	0.999954	0.52396	D	2.58	0.75369	M	1.8	0.25344	T	-0.88	0.24460	N	0.368	0.40963	-0.8920	0.48758	T	0.156	0.48790	T	10	0.009507805	0.00214	T	0.002931	0.06221	T	0.131	0.35738	.	.	0.748185691702	0.74591	0.22864905077774259	0.22779	0.280242865958	0.30504	0.608721494675	0.54134	T	0.114741	0.43279	T	-0.366277	0.03787	T	-0.386854	0.34921	T	0.114977251285718	0.13932	T	0.975769	0.91515	D	0.34274346	0.56497	0.26938286	0.52818	0.34274346	0.56497	0.26938286	0.52817	-5.256	0.39506	T	.	.	0.195	0.41813	B	.;.	.;.	3.468696	0.48378	22.6	0.99886996944704631	0.96204	0.94159	0.60291	D	AEFBI	0.479302	0.52150	N	0.595593572336126	0.72899	5.878889	0.53157682863693	0.70127	5.459584	0.999999978865839	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.688494	0.62686	0	0.727631	0.95156	0	.	.	4.26	4.26	0.49832	4.896000	0.62911	5.976000	0.52084	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	12.655	0.56145	895	0.25842	.;Syntaxin, N-terminal domain|Syntaxin, N-terminal domain|Syntaxin, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	371.98	33	chr12	130812996	.	T	C	371.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.469;DP=630;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.54;ReadPosRankSum=0.652;SOR=0.519	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,936	20	0	1	0
chr12	131136113	131136113	G	A	exonic	ADGRD1	.	nonsynonymous SNV	ADGRD1:NM_198827:exon22:c.G2344A:p.G782S	.	.	412	1109	1	0	0	1	0.000450653	.	.	2218844	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.77	T	0.028	B	0.015	B	0.187	N	1.000	N	-0.625	N	1.25	T	-1.020	T	0.069	T	0.31	0.363	5.972	0.289	-0.002	0.903	4.939	0.077	0.0184898861911	.	.	5.81e-05	0.0002	0	0.0005	0	0	0	6.078e-05	4.53e-05	7	154602	rs574429603	3.694e-05	3.762e-05	3.267e-05	4.125e-05	0.0002	2.894e-05	2.592e-05	9.928e-05	7.224e-05	8.961e-05	0	0	0.0002	0	0	3.327e-05	3.312e-05	4.637e-05	8.532e-05	8.529e-05	0.0001	5.369e-05	0.0014	4.952e-05	3.958e-05	0.0006	0.0005	0.0001	0	0	0	0.0014	0	0	1.47e-05	0	0	0.444	0.20607	T	0.995	0.05805	T	0.027	0.19556	B	0.015	0.17295	B	0.187056	0.03223	N	1.797290	1	0.08975	N	.	.	.	0.17	0.60485	T	0.68	0.02228	N	0.116	0.17553	-1.0201	0.23682	T	0.069	0.28247	T	10	0.025728077	0.00758	T	0.01849	0.40571	T	0.077	0.22490	.	.	0.0920862733494	0.08535	0.13067633433681025	0.12992	0.164297349739	0.18538	0.308208823204	0.11637	T	0.013961	0.11978	T	-0.365124	0.03849	T	-0.43225	0.29680	T	0.00642837033967065	0.00072	T	0.70513	0.31558	T	0.033633277	0.03621	0.034200866	0.02445	0.033633277	0.03621	0.034200866	0.02445	-1.716	0.02271	T	.	.	0.063	0.01512	B	.;.;.;.	.;.;.;.	0.537947	0.09066	5.848	0.83429557146573063	0.14721	.	.	.	.	0.081435	0.16478	N	-1.24591846329012	0.04354	0.1963267	-1.2081378207077	0.05779	0.2762856	1.20032167872601E-5	0.02871	0.638212	0.43195	0	0.670034	0.63936	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	4.6	0.289	0.14974	1.198000	0.31831	0.839000	0.22025	0.618000	0.50648	0.111000	0.23011	0.000000	0.08366	0.005000	0.06747	0.306:0.1515:0.5425:0.0	4.939	0.13309	988	0.01987	GPCR, family 2-like;.;GPCR, family 2-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1204.98	49	chr12	131136113	.	G	A	1204.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=1207;ExcessHet=0.0000;FS=4.924;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=-7.310e-01;SOR=0.367	GT:AD:DP:GQ:PL	0/0:60,0:60:99:0,120,1800	20	0	1	0
chr12	131719498	131719498	G	A	exonic	SFSWAP	.	nonsynonymous SNV	SFSWAP:NM_001261411:exon4:c.G565A:p.V189I	.	.	435	1058	28	1	0	30	0.0139795	.	.	2817140	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.53	T	0.331	B	0.031	B	0.063	N	0.891	D	0	N	2.85	T	-0.950	T	0.008	T	0.101	0.772	8.081	-3.14	-0.751	0.318	14.097	0.031	0.00437233703301	0.0045	0.00219649	0.0050	0.0009	0.0010	0	0.0068	0.0057	0.0044	0.0093	0.0047735	738	154602	rs35562367	0.0056	0.0056	0.0054	0.0058	0.0107	0.0055	0.0055	0.0101	0.0099	0.0015	0.0016	0.0015	5.038e-05	0.0074	0.0038	0.0057	0.0049	0.0107	0.0044	0.0044	0.0041	0.0047	0.0104	0.0041	0.0040	0.0081	0.0073	0.0010	0	0.0042	0.0017	0	0.0063	0	0.0063	0.0019	0.0104	0.593	0.05755	T	0.741	0.04965	T	0.012	0.16265	B	0.004	0.10090	B	0.063418	0.22027	N	0.532850	0.890863	0.35949	D	-0.585	0.02270	N	2.85	0.10578	T	-0.37	0.13226	N	0.119	0.10911	-0.9502	0.40938	T	0.008	0.02801	T	10	0.0062130988	0.00140	T	0.004372	0.10655	T	0.031	0.07369	.	.	0.123314135267	0.11883	0.07507751784154569	0.07443	0.666889320388	0.59220	0.264494180679	0.05438	T	0.094017	0.39330	T	-0.662726	0.00060	T	-0.717202	0.04932	T	0.0058287017804224	0.00064	T	0.80112	0.44691	T	0.018225698	0.00343	0.0262128	0.00698	0.018225698	0.00343	0.0262128	0.00698	-2.446	0.05573	T	.	.	0.064	0.01762	B	.;.	.;.	0.376821	0.07489	4.131	0.8096812678778319	0.13455	0.58450	0.30645	D	AEFBCI	0.045792	0.07529	N	-1.05591377937999	0.07472	0.3472182	-0.965469141550142	0.10566	0.5329898	0.99624934018087	0.34617	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	-3.14	0.04928	0.287000	0.18678	-0.046000	0.12607	-0.244000	0.07312	0.977000	0.34929	0.000000	0.08366	0.322000	0.25017	0.4654:0.0:0.5346:0.0	14.097	0.64559	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	562.98	33	chr12	131719498	.	G	A	562.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.840e-01;DP=781;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.13;ReadPosRankSum=-9.330e-01;SOR=0.656	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1044	20	0	1	0
chr12	131756617	131756617	A	G	exonic	SFSWAP	.	nonsynonymous SNV	SFSWAP:NM_001261411:exon11:c.A1693G:p.T565A	.	.	429	1049	43	1	0	45	0.0209986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.91	T	0.0	B	0.001	B	0.544	N	1.000	N	0.69	N	2.99	T	-0.989	T	0.018	T	0.219	0.301	5.631	-3.66	-1.039	-0.389	5.562	0.009	.	0.0036	0.00658946	0.0081	0.0008	0.0040	0.0001	0.0002	0.0068	0.0097	0.0310	0.0069792	1079	154602	rs145713017	0.0068	0.0067	0.0060	0.0075	0.0267	0.0066	0.0066	0.0257	0.0254	0.0009	0.0035	0.0129	5.067e-05	0.0003	0.0131	0.0059	0.0077	0.0267	0.0043	0.0043	0.0041	0.0045	0.0232	0.0040	0.0039	0.0198	0.0184	0.0010	0	0.0024	0.0147	0	0.0004	0.0102	0.0057	0.0057	0.0232	0.649	0.06779	T	0.784	0.05488	T	0.0	0.02946	B	0.0	0.01387	B	0.543757	0.05329	N	1.222960	1	0.08975	N	0.55	0.14455	N	2.98	0.09356	T	-0.82	0.22508	N	0.057	0.02861	-0.9893	0.32778	T	0.018	0.07565	T	10	0.003207326	0.00054	T	.	.	.	0.009	0.00846	.	.	0.246926113748	0.24311	0.06098012363249152	0.06038	0.433426700291	0.43500	0.341311901808	0.16635	T	0.045552	0.27157	T	-0.663629	0.00060	T	-0.706436	0.05481	T	0.00248593843203346	0.00026	T	0.407159	0.12198	T	0.021300873	0.00725	0.019259317	0.00083	0.021300873	0.00725	0.019259317	0.00083	-2.676	0.07103	T	.	.	0.057	0.01143	B	.;.	.;.	-0.337826	0.02456	0.282	0.50248361701415034	0.04351	0.01620	0.05236	N	AEFDBI	0.018817	0.00600	N	-1.52238196200166	0.01703	0.07453626	-1.55110784914675	0.01968	0.08988614	0.0111596481021623	0.12139	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.34	-3.66	0.04200	-0.421000	0.07118	1.784000	0.28742	-0.057000	0.16691	0.000000	0.06391	0.009000	0.19889	0.008000	0.08271	0.2274:0.0973:0.5789:0.0964	5.562	0.16433	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	717.98	37	chr12	131756617	.	A	G	717.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.606;DP=812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.86;ReadPosRankSum=-8.260e-01;SOR=0.735	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1240	20	0	1	0
chr12	131756620	131756620	G	A	exonic	SFSWAP	.	nonsynonymous SNV	SFSWAP:NM_001261411:exon11:c.G1696A:p.V566I	.	.	429	1087	6	0	0	6	0.00275229	.	.	2378000	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.29	T	0.011	B	0.003	B	0.232	N	1.000	N	1.5	L	2.9	T	-1.037	T	0.050	T	0.131	1.313	10.30	-1.81	-0.345	-0.130	3.929	0.013	0.00494820466925	.	.	5.472e-05	0	0	0	0	3.257e-05	0	0.0003	3.88e-05	6	154602	rs763682971	9.113e-05	9.098e-05	9.199e-05	9.025e-05	0.0007	7.827e-05	7.366e-05	0.0002	0.0002	3.059e-05	4.809e-05	0	0	0	0.0007	8.043e-05	0.0002	0.0003	6.57e-05	6.566e-05	7.707e-05	5.38e-05	0.0002	3.516e-05	2.616e-05	5.842e-05	4.239e-05	2.412e-05	0	0	0	0	0	0	0.0001	0	0.0002	0.227	0.25154	T	0.201	0.43721	T	0.006	0.13644	B	0.001	0.04355	B	0.231577	0.03521	N	1.529970	1	0.08975	N	1.525	0.38595	L	2.9	0.10196	T	-0.45	0.14782	N	0.095	0.07535	-1.0370	0.18233	T	0.050	0.21143	T	10	0.07210097	0.10717	T	0.004948	0.12473	T	0.013	0.01715	.	.	0.102598925029	0.09809	0.03978221880174208	0.03924	0.366808815519	0.38247	0.333579421043	0.15474	T	0.056156	0.30207	T	-0.535051	0.00359	T	-0.707404	0.05430	T	0.00911517907014047	0.00115	T	0.694731	0.30630	T	0.017994883	0.00322	0.022193551	0.00250	0.017994883	0.00321	0.022193551	0.00249	-4.951	0.36303	T	.	.	0.066	0.03407	B	.;.	.;.	0.544814	0.09136	5.917	0.88915890152246291	0.18359	0.10534	0.16014	N	AEFDBI	0.033394	0.03951	N	-0.987500517232873	0.08869	0.417567	-1.05377831170322	0.08628	0.4251705	0.00226430786426858	0.09278	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.34	-1.81	0.07456	-0.144000	0.10263	-0.268000	0.10371	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.1399:0.349:0.3918:0.1194	3.929	0.08774	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	911.98	37	chr12	131756620	.	G	A	911.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.03;ReadPosRankSum=0.249;SOR=0.648	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1240	20	0	1	0
chr12	131797354	131797354	G	A	exonic	SFSWAP	.	nonsynonymous SNV	SFSWAP:NM_004592:exon16:c.G2711A:p.R904H	.	.	429	1059	32	2	0	36	0.0167131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.994	D	0.000	D	1.000	D	1.78	L	2.72	T	-0.909	T	0.155	T	0.522	4.103	21.1	5.41	2.523	6.300	17.955	0.151	.	0.0004	0.00359425	0.0028	0.0002	0.0017	0.0005	0	0.0005	0.0013	0.0159	0.0021733	336	154602	rs2229809	0.0013	0.0013	0.0008	0.0017	0.0147	0.0012	0.0012	0.0140	0.0137	0.0002	0.0014	0.0009	5.061e-05	1.92e-05	0.0053	0.0003	0.0021	0.0147	0.0010	0.0010	0.0008	0.0012	0.0145	0.0008	0.0008	0.0118	0.0108	9.62e-05	0	0.0009	0.0026	0	0	0.0034	0.0007	0.0009	0.0145	0.001	0.91255	D	0.07	0.43721	T	0.999	0.77913	D	0.987	0.77487	D	0.000276	0.46590	D	0.176010	1	0.81001	D	2.125	0.59049	M	1.85	0.24472	T	-1.34	0.37375	N	0.489	0.52297	-0.9088	0.47001	T	0.155	0.48568	T	10	0.0063506067	0.00143	T	.	.	.	0.151	0.39764	.	.	0.174091166621	0.17034	0.43951067603578076	0.43868	0.547118669287	0.51680	0.697968900204	0.66850	T	0.07596	0.35303	T	-0.355286	0.04403	T	-0.270796	0.47740	T	0.0346239289348422	0.02744	T	0.892111	0.62800	D	0.17955427	0.39032	0.114189036	0.27561	0.17955427	0.39032	0.114189036	0.27561	-5.681	0.43524	T	.	.	0.093	0.25753	B	.;.	.;.	4.280980	0.65215	24.8	0.99876481571176401	0.95328	0.93280	0.57796	D	AEFDBHCI	0.657473	0.62909	D	0.756565380100216	0.83333	7.989863	0.748075774186384	0.86012	8.755491	0.999999999414607	0.74766	0.741868	0.97996	0	0.724815	0.89359	0	0.774882	0.98623	0	0.635551	0.53088	0	.	.	5.41	5.41	0.78313	6.765000	0.74760	7.190000	0.57771	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	17.955	0.88984	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1134.98	38	chr12	131797354	.	G	A	1134.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.783e+00;DP=780;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.24;ReadPosRankSum=-2.880e-01;SOR=0.800	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1321	20	0	1	0
chr12	131841782	131841782	C	T	exonic	MMP17	.	nonsynonymous SNV	MMP17:NM_016155:exon5:c.C865T:p.R289C,	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.964	D	0.002	N	1.000	D	1.76	L	2.03	T	-1.044	T	0.101	T	0.903	3.001	16.01	3.23	1.045	1.039	11.374	0.300	0.0971231120219	.	.	7.186e-05	0	0	0.0002	0	2.679e-05	0	0.0003	3.23e-05	5	154602	rs773095803	2.688e-05	3.215e-05	2.468e-05	2.911e-05	0.0003	2.013e-05	1.767e-05	0.0002	0.0002	0	0	0	0.0003	0	0	1.264e-05	1.67e-05	0.0001	2.628e-05	2.627e-05	2.569e-05	2.69e-05	0.0004	8.14e-06	5.14e-06	7.276e-05	3.024e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0004	0.065	0.58626	T	0.104	0.69154	T	1.0	0.90584	D	0.964	0.71005	D	0.002103	0.37227	N	0.222920	0.999999	0.58761	D	2.71	0.79292	M	2.03	0.20959	T	-2.87	0.62151	D	0.795	0.79118	-1.0443	0.16030	T	0.101	0.37443	T	10	0.74507797	0.75230	D	0.097123	0.76719	D	0.300	0.62068	0.743	0.87486	0.491112125781	0.48745	0.7879208225009229	0.78744	0.895017096395	0.70418	0.705694794655	0.67968	T	0.375433	0.73903	T	-0.00206591	0.51368	T	0.0335557	0.72509	D	0.66732132434845	0.39218	D	0.981452	0.94028	D	0.4062468	0.61163	0.21888874	0.46608	0.4062468	0.61164	0.21888874	0.46607	-13.986	0.93477	D	.	.	0.243	0.53433	B	.;.;.	.;.;.	4.789311	0.77707	26.8	0.99903806757294167	0.97502	0.81836	0.41161	D	AEFBI	0.440982	0.49932	N	0.307293686235638	0.56523	3.817068	0.212940666006597	0.50565	3.247179	0.135193394964021	0.17168	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.562822	0.20929	0	.	.	4.15	3.23	0.36150	1.107000	0.30724	3.229000	0.36897	0.539000	0.25131	0.998000	0.41325	1.000000	0.68203	0.253000	0.23340	0.3292:0.6708:0.0:0.0	11.374	0.48956	982	0.03397	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain;.;Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	537.98	51	chr12	131841782	.	C	T	537.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.113;DP=780;ExcessHet=0.0000;FS=3.975;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.55;ReadPosRankSum=-2.080e-01;SOR=1.233	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1072	20	0	1	0
chr12	131849915	131849915	A	G	exonic	MMP17	.	nonsynonymous SNV	MMP17:NM_016155:exon9:c.A1318G:p.N440D,	.	.	427	1083	12	0	0	12	0.00550964	.	.	724989	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.28	T	0.886	P	0.68	P	0.000	D	1.000	D	1.805	L	3.24	T	-1.141	T	0.051	T	0.11	4.348	22.9	3.44	0.626	5.286	8.326	0.143	.	0.0072	0.0061901	0.0049	0.0107	0.0048	0	0.0023	0.0058	0.0089	0.0015	0.0049611	767	154602	rs139162290	0.0045	0.0045	0.0047	0.0044	0.0175	0.0044	0.0044	0.0147	0.0137	0.0105	0.0054	0.0078	2.519e-05	0.0027	0.0175	0.0045	0.0069	0.0014	0.0066	0.0066	0.0070	0.0063	0.0105	0.0063	0.0062	0.0093	0.0090	0.0101	0.0570	0.0105	0.0072	0	0.0028	0.0068	0.0043	0.0114	0.0008	0.248	0.48642	T	0.035	0.52389	D	0.886	0.48745	P	0.68	0.53472	P	0.000000	0.84330	D	0.000000	0.999398	0.81001	D	1.505	0.38159	L	2.16	0.19166	T	-4.07	0.78388	D	0.38	0.42541	-1.1411	0.01318	T	0.051	0.21650	T	10	0.00799194	0.00181	T	.	.	.	0.143	0.38195	.	.	0.450539155747	0.44678	0.7420346890705607	0.74149	0.269835438501	0.29508	0.504001259804	0.39385	T	0.165505	0.51138	T	-0.546058	0.00308	T	-0.547756	0.17541	T	0.0944945066890397	0.11740	T	0.849215	0.53152	T	0.5497218	0.69940	0.47569257	0.69618	0.5497218	0.69941	0.47569257	0.69618	-12.48	0.88103	D	.	.	0.113	0.40015	B	.;.;.;.	.;.;.;.	3.288126	0.45079	22.1	0.99633114491927033	0.76142	0.97061	0.72463	D	AEFDBI	0.721766	0.67191	D	0.280012812324219	0.55137	3.677929	0.266853700865674	0.53614	3.529511	0.926956279998203	0.26870	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.6	3.44	0.38486	6.145000	0.71533	4.335000	0.43039	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8367:0.0:0.1633:0.0	8.326	0.31317	982	0.03397	Hemopexin-like domain;.;Hemopexin-like domain;Hemopexin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2354.98	33	chr12	131849915	.	A	G	2354.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.663;DP=916;ExcessHet=0.0000;FS=1.067;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.441;SOR=0.593	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1308	20	0	1	0
chr12	131919375	131919375	G	A	exonic	ULK1	.	nonsynonymous SNV	ULK1:NM_003565:exon24:c.G2675A:p.R892Q,	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.995	D	0.837	P	0.000	D	1.000	D	2.08	M	2.16	T	-0.748	T	0.203	T	0.649	4.953	28.8	5.3	2.472	4.404	13.284	0.096	0.0859787506983	.	0.000998403	0.0006	0	0.0002	0	0	0	0	0.0049	0.0004075	63	154602	rs555704782	0.0003	0.0003	0.0002	0.0004	0.0040	0.0003	0.0003	0.0036	0.0035	8.187e-05	2.881e-05	0	0	0	0	9.716e-06	0.0004	0.0040	0.0001	0.0001	4.062e-05	0.0002	0.0035	6.971e-05	5.613e-05	0.0021	0.0017	2.499e-05	0	0	0	0.0002	0	0	0	0	0.0035	0.02	0.49613	D	0.045	0.49390	D	0.995	0.67487	D	0.837	0.59984	P	0.000001	0.84330	D	0.000000	0.944318	0.81001	D	2.085	0.57729	M	0.99	0.41750	T	-1.94	0.45042	N	0.58	0.60156	-0.7481	0.58034	T	0.203	0.55961	T	10	0.011183947	0.00246	T	0.085979	0.74643	D	0.096	0.27654	0.23	0.15705	0.231005064126	0.22704	0.23046841099586254	0.22961	0.37549868753	0.39001	0.75691986084	0.75471	T	0.183798	0.53626	T	-0.315776	0.07249	T	-0.227205	0.52042	T	0.103241333185219	0.12710	T	0.889911	0.62289	D	0.269	0.50002	0.18587781	0.41727	0.269	0.50001	0.18587781	0.41726	-4.026	0.24192	T	.	.	0.081	0.08368	B	.	.	4.877276	0.79954	27.2	0.99938127983264269	0.99698	0.90429	0.51598	D	AEFBCI	0.385984	0.46652	N	0.63728017065146	0.75548	6.325488	0.623796356566034	0.76672	6.53433	0.949568991111712	0.27852	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.3	5.3	0.74745	4.716000	0.61607	5.593000	0.49002	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0762:0.0:0.9238:0.0	13.284	0.59666	976	0.04745	Serine/threonine-protein kinase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1191.98	39	chr12	131919375	.	G	A	1191.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.531;DP=902;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=-3.300e-02;SOR=0.609	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1459	20	0	1	0
chr12	131941301	131941301	G	A	exonic	PUS1	.	nonsynonymous SNV	PUS1:NM_001002019:exon5:c.G470A:p.R157Q	Myopathy, lactic acidosis, and sideroblastic anemia 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	1.0	D	0.998	D	0.000	D	1.000	D	2.25	M	0.51	T	-0.399	T	0.356	T	0.829	4.101	21.1	5.22	2.443	9.869	18.786	0.445	0.0242911245497	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs779185827	4.789e-06	4.788e-06	2.723e-06	6.876e-06	4.637e-05	1.99e-06	1.28e-06	1.583e-05	9.3e-06	2.987e-05	0	0	0	1.874e-05	0	0	1.656e-05	4.637e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	9.429e-05	0	0	0	0.0002	0.003	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.09	0.57893	M	0.48	0.55945	T	-3.76	0.73267	D	0.877	0.88577	-0.3992	0.72052	T	0.356	0.71912	T	10	0.69302225	0.71972	D	0.024291	0.47276	T	0.445	0.74727	0.44	0.49484	0.838460652392	0.83691	0.7683680329892292	0.76785	1.05796501594	0.76374	0.784415483475	0.79595	T	0.398313	0.75645	T	0.22369	0.76126	D	0.083539	0.75815	D	0.969949245452881	0.68771	D	0.987776	0.96221	D	0.8872151	0.90269	0.6786368	0.81122	0.8872151	0.90270	0.6786368	0.81123	-9.305	0.69940	D	0.5592651021166432	0.62715	0.402	0.63618	A	.;.;.;.;.	.;.;.;.;.	5.321022	0.89314	29.9	0.99942459232708292	0.99824	0.98545	0.83931	D	AEFBHCI	0.900565	0.84625	D	0.710564779672804	0.80326	7.269418	0.642392387708136	0.78046	6.797908	0.999999999999625	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.22	5.22	0.72285	9.889000	0.98569	11.681000	0.94222	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.343000	0.25501	0.0:0.0:1.0:0.0	18.786	0.91919	976	0.04745	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1572.98	40	chr12	131941301	.	G	A	1572.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.163;DP=854;ExcessHet=0.0000;FS=2.044;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.63;ReadPosRankSum=1.21;SOR=0.823	GT:AD:DP:GQ:PL	0/1:79,69:148:99:1587,0,1864	20	0	1	0
chr12	132013127	132013127	G	A	exonic	EP400	.	nonsynonymous SNV	EP400:NM_015409:exon17:c.G3560A:p.R1187H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.969	D	0.503	P	0.001	N	1.000	N	-0.36	N	-3.46	D	0.027	D	0.552	D	0.385	1.686	11.60	2.02	0.598	3.831	5.428	0.420	0.0639271140282	.	.	1.661e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs773523648	2.052e-05	2.052e-05	1.77e-05	2.338e-05	0.0007	1.456e-05	1.264e-05	0.0002	0.0001	2.987e-05	0	0	5.038e-05	0	0.0007	1.349e-05	0	9.276e-05	6.569e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.188	0.21304	T	0.104	0.38160	T	0.969	0.56768	D	0.503	0.47728	P	0.001054	0.40475	N	0.224051	0.650541	0.30537	N	.	.	.	-3.46	0.94508	D	-1.05	0.27463	N	0.361	0.40264	0.027	0.82784	D	0.552	0.83621	D	10	0.2563907	0.43043	T	0.063927	0.69118	D	0.420	0.72930	.	.	0.539212287204	0.53574	0.5438531293835784	0.54311	0.559664911382	0.52503	0.325194478035	0.14208	T	.	.	.	-0.0651159	0.42104	T	-0.0716318	0.65509	T	0.186971468117646	0.19664	T	0.924308	0.72323	D	.	.	.	.	.	.	.	.	-5.696	0.43658	T	.	.	0.079	0.07083	B	.;.	.;.	4.021135	0.59398	24.1	0.98407782016542467	0.41137	0.86179	0.45410	D	AEFDBI	0.116627	0.22882	N	-0.108986824586703	0.37001	2.146529	-0.0821319839208135	0.36128	2.098663	0.870393810048939	0.25404	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.27	2.02	0.25641	3.760000	0.54947	6.450000	0.55671	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.5675:0.0:0.4325:0.0	5.428	0.15734	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1660.98	37	chr12	132013127	.	G	A	1660.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.03;DP=839;ExcessHet=0.0000;FS=2.489;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.10;ReadPosRankSum=-3.890e-01;SOR=0.466	GT:AD:DP:GQ:PL	0/1:48,62:110:99:1675,0,1017	20	0	1	0
chr12	132053434	132053434	C	T	exonic	EP400	.	nonsynonymous SNV	EP400:NM_015409:exon43:c.C7565T:p.P2522L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.938	P	0.241	B	0.006	N	1.000	D	0.55	N	-2.58	D	-0.110	T	0.418	T	0.439	0.620	7.337	3.05	2.218	0.734	12.462	0.355	0.393944235084	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1253741317	7.279e-06	8.215e-06	8.626e-06	5.897e-06	3.177e-05	3.68e-06	2.68e-06	3.21e-06	2.32e-06	3.177e-05	0	0	0	0	0	7.464e-06	0	1.265e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.78490	D	0.038	0.51421	D	0.938	0.52538	P	0.241	0.38645	B	0.005886	0.32428	N	0.250921	0.964191	0.38392	D	.	.	.	-2.59	0.90332	D	-1.86	0.43524	N	0.41	0.45047	-0.1100	0.79867	T	0.418	0.76449	T	10	0.29137158	0.46716	T	0.393944	0.93250	D	0.355	0.67600	.	.	0.358880540497	0.35496	0.11336133792540412	0.11264	0.457208605773	0.45367	0.819734692574	0.84988	D	.	.	.	0.0689469	0.60721	T	-0.138739	0.60227	T	0.487544447183609	0.32174	T	0.579842	0.20971	T	.	.	.	.	.	.	.	.	-5.508	0.41942	T	.	.	0.113	0.22318	B	.;.	.;.	2.955383	0.39341	20.9	0.81844219221935399	0.13889	0.15176	0.18782	N	AEFBI	0.061842	0.11852	N	-0.351424142894539	0.27219	1.491682	-0.41155115533587	0.24658	1.351526	0.998370524726885	0.36850	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	4.03	3.05	0.34272	0.942000	0.28615	5.523000	0.48827	0.527000	0.24520	0.130000	0.23345	1.000000	0.68203	0.020000	0.11549	0.1679:0.8321:0.0:0.0	12.462	0.55077	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	304.98	18	chr12	132053434	.	C	T	304.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.910e-01;DP=515;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.25;ReadPosRankSum=1.78;SOR=0.467	GT:AD:DP:GQ:PL	0/0:23,0:23:60:0,60,900	20	0	1	0
chr12	132062526	132062526	-	GCA	exonic	EP400	.	nonframeshift insertion	EP400:NM_015409:exon47:c.8159_8160insGCA:p.Q2748_T2749insQ,	.	.	350	929	220	16	7	259	0.119431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4888.26	92	chr12	132062523	.	GGCA	GGCAGCA,G	4888.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-3.640e-01;DP=1498;ExcessHet=1.7912;FS=2.679;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=59.98;MQRankSum=0.00;QD=7.44;ReadPosRankSum=-6.150e-01;SOR=0.711	GT:AD:DP:GQ:PL	0/0:33,0,0:33:99:0,99,1195,99,1195,1195	15	0	5	0
chr12	132062524	132062526	GCA	-	exonic	EP400	.	nonframeshift deletion	EP400:NM_015409:exon47:c.8157_8159del:p.Q2748del,	.	.	350	929	220	16	7	259	0.119431	.	.	3198656	EP400-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0695	.	0.0079	0.0062	0.0086	0.0139	0.0069	0.0074	0.0037	0.0077	0.0045336	118	26028	rs751944198	8.771e-05	0.0006	9.222e-05	8.317e-05	0.0004	7.501e-05	6.991e-05	0.0002	0.0002	0.0004	6.891e-05	0	7.673e-05	0.0001	0	7.45e-05	5.091e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	0.0004	0	0	0	0.0002	0	0	0.0001	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4888.26	92	chr12	132062523	.	GGCA	GGCAGCA,G	4888.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-3.640e-01;DP=1498;ExcessHet=1.7912;FS=2.679;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=59.98;MQRankSum=0.00;QD=7.44;ReadPosRankSum=-6.150e-01;SOR=0.711	GT:AD:DP:GQ:PL	0/0:33,0,0:33:99:0,99,1195,99,1195,1195	15	0	5	0
chr12	132066948	132066948	G	A	exonic	EP400	.	nonsynonymous SNV	EP400:NM_015409:exon49:c.G8728A:p.G2910S,	.	.	439	1082	1	0	0	1	0.000461894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	1.0	D	0.994	D	0.000	D	1.000	D	0.975	L	-2.62	D	0.504	D	0.721	D	0.759	3.720	18.89	4.85	2.244	5.381	11.463	0.510	0.057405597016	.	.	9.172e-05	0	0	0	0	0.0001	0	6.622e-05	7.12e-05	11	154602	rs199707864	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	9.578e-05	0.0001	0.0001	0	9.322e-05	0	0	1.891e-05	0	0.0001	0.0002	3.521e-05	0.0001	0.0001	0.0001	9.415e-05	0.0002	6.511e-05	5.322e-05	0.0001	7.894e-05	4.824e-05	0	6.541e-05	0	0	0	0	0.0002	0.0005	0	0.004	0.65419	D	0.1	0.38742	T	1.0	0.90584	D	0.962	0.70672	D	0.000000	0.84330	D	0.052091	0.945733	0.37499	D	.	.	.	-2.66	0.90272	D	-1.72	0.40850	N	0.662	0.67477	0.504	0.90602	D	0.721	0.90433	D	10	0.7262964	0.73996	D	0.057406	0.66953	D	0.510	0.78971	.	.	0.725493740301	0.72306	0.6132550393103818	0.61257	1.13977541105	0.78881	0.758713662624	0.75738	T	.	.	.	0.0602594	0.59646	T	0.128217	0.78776	D	0.319917768239975	0.25819	T	0.869313	0.57326	D	.	.	.	.	.	.	.	.	-2.538	0.06046	T	.	.	0.096	0.15296	B	.;.	.;.	4.984730	0.82600	27.8	0.9968883222111522	0.79775	0.97781	0.77086	D	AEFDBI	0.609393	0.59861	D	0.481992952447401	0.66040	4.898799	0.490239319889137	0.67341	5.071121	0.999999999540433	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.85	4.85	0.62375	4.623000	0.60948	11.649000	0.93865	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.0831:0.0:0.9169:0.0	11.463	0.49465	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	651.98	33	chr12	132066948	.	G	A	651.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=708;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.16;ReadPosRankSum=1.99;SOR=0.582	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1084	20	0	1	0
chr12	132148891	132149110	CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	-	exonic	NOC4L	.	frameshift deletion	NOC4L:NM_024078:exon9:c.897_901del:p.D299Efs*25,	.	.	422	945	57	36	62	191	0.063893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0042	0.0039	0.0041	0.0054	0.0037	0.0036	0.0045	0.0041	0.0042	0.0068	0.0054	0.0069	0.0014	0.0029	0.0072	0.0037	0.0095	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	21208.18	31	chr12	132148890	.	ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	ACCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC,ACCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC,A,ACCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	21208.18	.	AC=13,7,1,1;AF=0.310,0.167,0.024,0.024;AN=42;BaseQRankSum=0.920;DP=1350;ExcessHet=3.4384;FS=1.805;InbreedingCoeff=-0.1455;MLEAC=13,7,1,1;MLEAF=0.310,0.167,0.024,0.024;MQ=59.50;MQRankSum=-2.060e-01;QD=21.38;ReadPosRankSum=-1.910e-01;SOR=0.840	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:51,0,22,0,0:73:99:0|1:132148890_ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC_A:773,926,2796,0,1870,1802,926,2796,1870,2796,926,2796,1870,2796,2796:132148890	4	2	6	0
chr12	132151614	132151614	C	T	exonic	NOC4L	.	nonsynonymous SNV	NOC4L:NM_024078:exon12:c.C1204T:p.R402W,	.	.	411	1089	22	0	0	22	0.01	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.973	D	0.002	N	0.999	D	1.44	L	1.93	T	-1.050	T	0.103	T	0.6	3.048	16.17	3.33	1.251	3.036	8.037	0.227	0.0403055087608	.	0.000798722	0.0011	0	0	0.0001	0	0.0003	0.0025	0.0065	0.0008861	137	154602	rs564077156	0.0006	0.0006	0.0004	0.0008	0.0068	0.0005	0.0005	0.0057	0.0055	0.0002	8.957e-05	0	2.52e-05	0	0.0068	0.0002	0.0007	0.0061	0.0003	0.0003	0.0003	0.0004	0.0050	0.0002	0.0002	0.0034	0.0029	2.405e-05	0	0.0003	0	0	0	0.0034	0.0002	0.0009	0.0050	0.007	0.59928	D	0.01	0.65728	D	1.0	0.90584	D	0.973	0.72923	D	0.001739	0.38161	N	0.212320	0.998752	0.45389	D	1.525	0.38595	L	1.93	0.22881	T	-4.41	0.77391	D	0.553	0.57860	-1.0505	0.14258	T	0.103	0.37994	T	10	0.015860021	0.00333	T	0.040306	0.59303	D	0.227	0.52620	.	.	0.473695954338	0.46998	0.6784660378610355	0.67785	.	.	0.584664225578	0.50742	T	0.210057	0.57045	T	-0.39577	0.02468	T	-0.339077	0.40448	T	0.162138142495619	0.18028	T	0.985476	0.95021	D	0.1638014	0.36546	0.14800236	0.35003	0.1638014	0.36546	0.14800236	0.35002	-10.523	0.76979	D	.	.	0.107	0.20078	B	.	.	4.198713	0.63341	24.6	0.99902219995995878	0.97350	0.83246	0.42379	D	AEFDBCI	0.427510	0.49142	N	0.308786020710803	0.56598	3.824785	0.232705969795251	0.51670	3.34764	0.0127706625997711	0.12371	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.33	3.33	0.37245	3.279000	0.51374	2.731000	0.34388	0.596000	0.33519	0.997000	0.40164	1.000000	0.68203	0.011000	0.09372	0.2309:0.677:0.0:0.0922	8.037	0.29659	906	0.23090	CCAAT-binding factor	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1124.98	65	chr12	132151614	.	C	T	1124.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.730e-01;DP=1026;ExcessHet=0.0000;FS=5.209;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.10;ReadPosRankSum=0.108;SOR=0.935	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	20	0	1	0
chr12	132510265	132510265	G	A	exonic	FBRSL1	.	nonsynonymous SNV	FBRSL1:NM_001382741:exon3:c.G1589A:p.R530Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049626624	5.38e-05	4.519e-05	5.448e-05	5.304e-05	0.0002	4.22e-05	3.859e-05	6.975e-05	4.212e-05	0	0	0	7.543e-05	4.691e-05	0	5.117e-05	9.176e-05	0.0002	3.286e-05	3.284e-05	1.285e-05	5.383e-05	7.241e-05	1.261e-05	7.98e-06	1.92e-05	1.032e-05	7.241e-05	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999917	0.19599	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121025056	0.22935	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01307	0.11369	T	.	.	.	.	.	.	.	.	.	0.494351	0.15306	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.15877	B	.	.	2.370861	0.30420	18.43	0.93665766134884254	0.23558	0.02535	0.07050	N	AEFBI	.	.	.	.	.	.	.	.	.	0.763207776033884	0.23545	0.090766	0.02384	0	0.104858	0.03167	0	0.129117	0.03641	0	0.083433	0.02327	0	0.24016	0.32172	3.72	1.33	0.20958	1.553000	0.35862	4.385000	0.43194	0.676000	0.76740	0.276000	0.25103	1.000000	0.68203	0.660000	0.32968	0.3077:0.0:0.6923:0.0	6.738	0.22609	482	0.77288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04167	69.21	1	chr12	132510265	.	G	A	69.21	.	AC=1;AF=0.042;AN=24;BaseQRankSum=0.524;DP=257;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1224;MLEAC=2;MLEAF=0.083;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=0.524;SOR=1.179	GT:AD:DP:GQ:PL	0/0:4,0:4:12:0,12,116	11	0	1	9
chr12	132543321	132543321	C	T	exonic	FBRSL1	.	stopgain	FBRSL1:NM_001382743:exon6:c.C853T:p.R285X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs368354261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.848e-05	9.843e-05	8.994e-05	0.0001	0.0019	6.002e-05	4.876e-05	0.0010	0.0008	0	0	0	0	0.0019	0	0	2.94e-05	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	30.5	78	chr12	132543321	.	C	T	30.5	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-9.670e-01;DP=78;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0819;MLEAC=2;MLEAF=0.067;MQ=60.00;MQRankSum=0.00;QD=10.17;ReadPosRankSum=-9.670e-01;SOR=0.223	GT:AD:DP:GQ:PL	./.	14	0	1	6
chr12	132696032	132696032	A	G	exonic	PXMP2	.	nonsynonymous SNV	PXMP2:NM_018663:exon3:c.A385G:p.M129V,	.	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.248	B	0.064	B	0.000	D	1.000	D	2.04	M	-2.37	D	-0.241	T	0.556	D	0.843	1.220	9.951	4.07	0.825	4.671	9.362	0.603	0.0608010023908	.	.	4.972e-05	0	0	0	0	1.502e-05	0	0.0003	3.88e-05	6	154602	rs759389423	3.711e-05	3.694e-05	2.733e-05	4.702e-05	0.0007	2.907e-05	2.604e-05	0.0003	0.0003	0	0	0	0	0	0.0007	1.353e-05	3.324e-05	0.0004	6.577e-06	6.569e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.412	0.10083	T	0.209	0.45744	T	0.248	0.31148	B	0.064	0.27215	B	0.000000	0.84330	D	0.036602	1	0.81001	D	2.92	0.84325	M	-2.37	0.88220	D	-1.87	0.43717	N	0.5	0.53269	-0.2414	0.76590	T	0.556	0.83771	D	10	0.31846392	0.49244	T	0.060801	0.68123	D	0.603	0.84345	0.611	0.74418	0.395441342475	0.39163	0.5049186554633976	0.50413	0.0706192734653	0.07910	0.433945983648	0.29749	T	0.198484	0.55549	T	0.0935574	0.63587	D	0.216622	0.84003	D	0.198937308167013	0.20358	T	0.70513	0.31914	T	0.19299152	0.40990	0.15605001	0.36553	0.19299152	0.40990	0.15605001	0.36552	-6.234	0.48197	T	0.28060332096780033	0.37584	0.267	0.50138	B	.;.	.;.	2.376673	0.30503	18.46	0.91534051306791731	0.20810	0.95375	0.64475	D	AEFBI	0.814794	0.73692	D	-0.0548777595029683	0.39385	2.321743	0.056379262019533	0.42381	2.562428	0.560825645244543	0.21412	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.22	4.07	0.46726	4.642000	0.61079	5.780000	0.49798	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.9137:0.0:0.0863:0.0	9.362	0.37364	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	888.98	36	chr12	132696032	.	A	G	888.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.373e+00;DP=830;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=0.130;SOR=0.591	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr12	132701299	132701299	C	T	exonic	PXMP2	.	nonsynonymous SNV	PXMP2:NM_018663:exon4:c.C449T:p.P150L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.856	P	0.307	B	0.002	N	1.000	D	2.98	M	-2.28	D	0.333	D	0.624	D	0.534	1.878	12.24	4.36	2.650	2.702	10.706	0.494	0.195702259432	.	.	0.0002	0	0	0.0001	0.0012	0.0003	0	0.0001	0.000194	30	154602	rs746375161	0.0001	0.0001	9.402e-05	0.0001	0.0007	8.721e-05	8.208e-05	0.0002	0.0001	2.999e-05	0	0	2.53e-05	0.0014	0.0007	5.577e-05	4.971e-05	4.643e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	6.806e-05	5.089e-05	2.408e-05	0	0	0	0.0002	0.0020	0	0.0001	0.0005	0	0.065	0.36310	T	0.125	0.35330	T	0.856	0.47190	P	0.307	0.41295	B	0.001806	0.37945	N	0.288521	1	0.81001	D	3.11	0.87757	M	-2.28	0.87512	D	-3.73	0.70920	D	0.455	0.49237	0.333	0.88068	D	0.624	0.86775	D	10	0.09909204	0.17960	T	0.195702	0.86437	D	0.494	0.77973	0.538	0.64874	0.770919186982	0.76882	0.5432015391169126	0.54246	0.187713895279	0.21090	0.378502935171	0.22044	T	0.728365	0.92377	D	-0.0535223	0.43912	T	-0.0596116	0.66360	T	0.205820995657576	0.20733	T	0.835117	0.50455	T	0.16013196	0.35933	0.16213909	0.37678	0.16013196	0.35932	0.16213909	0.37677	-7.1	0.54760	T	0.3163072026215954	0.41435	0.22	0.45061	B	.;.	.;.	3.453392	0.48099	22.6	0.98611414817554754	0.43651	0.93679	0.58883	D	AEFBI	0.297381	0.40698	N	0.319962169951374	0.57173	3.883784	0.273072404481579	0.53971	3.563811	0.999924430954951	0.46280	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.31	4.36	0.51643	2.723000	0.46947	1.573000	0.27428	0.580000	0.29708	0.861000	0.30630	0.831000	0.27213	0.048000	0.15020	0.3003:0.6997:0.0:0.0	10.706	0.45151	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2237.98	35	chr12	132701299	.	C	T	2237.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=862;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.02;ReadPosRankSum=-1.774e+00;SOR=0.711	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1466	20	0	1	0
chr12	132848685	132848685	C	T	exonic	CHFR	.	nonsynonymous SNV	CHFR:NM_001161347:exon11:c.G1292A:p.G431D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	2.34	M	1.69	T	-0.815	T	0.190	T	0.944	5.647	36	5.8	2.744	7.463	20.071	0.575	0.0347507386948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.02	0.86243	M	1.69	0.27032	T	-4.72	0.79998	D	0.886	0.94314	-0.8145	0.54275	T	0.190	0.54138	T	10	0.8588568	0.85096	D	0.034751	0.55884	D	0.575	0.82799	0.67	0.80803	0.627862309637	0.62483	0.7843023730274129	0.78381	1.31115989583	0.83227	0.712166905403	0.68908	T	0.624616	0.88284	D	0.276332	0.80999	D	0.159155	0.80755	D	0.990882396697998	0.81122	D	0.944006	0.78847	D	0.8504784	0.87371	0.8724631	0.93036	0.8504784	0.87372	0.8724631	0.93037	-12.058	0.89886	D	.	.	0.623	0.72197	P	.;.;.;.	.;.;.;.	5.203812	0.87303	29.2	0.99866333771931048	0.94457	0.98966	0.89286	D	AEFDBHI	0.936395	0.93265	D	0.866066769734314	0.90002	10.21055	0.856776662270337	0.93405	12.02134	0.999999999999927	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.26897	0.05253	2	0.711	0.71501	0	.	.	5.8	5.8	0.92081	7.378000	0.78957	7.571000	0.60712	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:1.0:0.0:0.0	20.071	0.97721	952	0.10565	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1378.98	36	chr12	132848685	.	C	T	1378.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.000e-03;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=0.407;SOR=0.763	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1399	20	0	1	0
chr12	132926700	132926700	C	T	exonic	ZNF605	.	nonsynonymous SNV	ZNF605:NM_001164715:exon5:c.G692A:p.S231N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.042	B	0.042	B	0.039	N	1.000	N	0.145	N	2.16	T	-0.997	T	0.016	T	0.015	-1.849	0.009	-0.794	-0.040	-4.294	1.162	0.028	0.00236638252921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.516	0.07354	T	1.0	0.01155	T	0.042	0.21471	B	0.042	0.24114	B	0.038694	0.24257	N	0.207634	1	0.08975	N	0.65	0.16133	N	2.16	0.19166	T	0.05	0.08187	N	0.066	0.09631	-0.9966	0.30865	T	0.016	0.06521	T	10	0.026116878	0.00786	T	0.002366	0.04590	T	0.028	0.06331	0.224	0.14813	0.229543500084	0.22568	0.012293058189533667	0.01188	.	.	0.289449155331	0.08843	T	0.006943	0.06364	T	-0.415436	0.01830	T	-0.834522	0.01185	T	0.0978169143199921	0.12115	T	0.059594	0.00430	T	0.03412422	0.03767	0.03613717	0.03001	0.03412422	0.03767	0.03613717	0.03000	-4.993	0.36764	T	.	.	0.129	0.27613	B	.;.	.;.	0.757272	0.11270	7.897	0.80380861521696878	0.13176	0.01953	0.05932	N	AEFDBHI	0.037726	0.05230	N	-1.4693155773061	0.02069	0.09099805	-1.4471948120883	0.02796	0.1292453	0.0154164773197887	0.12711	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.553451	0.17756	0	.	.	3.3	-0.794	0.10367	-4.093000	0.00336	-4.319000	0.02219	-0.315000	0.05944	0.000000	0.06391	0.000000	0.08366	0.977000	0.56843	0.1594:0.2365:0.1565:0.4475	1.162	0.01697	958	0.09170	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1588.98	33	chr12	132926700	.	C	T	1588.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.397e+00;DP=843;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=-6.440e-01;SOR=0.674	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,984	20	0	1	0
chr12	133057131	133057131	A	G	exonic	ZNF84	.	nonsynonymous SNV	ZNF84:NM_001127372:exon5:c.A416G:p.H139R	.	.	437	1040	43	2	0	47	0.0220969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.0	B	.	.	1.000	N	0.895	L	6.67	T	-0.909	T	0.011	T	0.213	-0.150	3.266	1.25	0.363	1.238	4.153	0.034	0.00447556693994	.	.	.	.	.	.	.	.	.	.	0.0009444	146	154602	rs34737533	0.0090	0.0090	0.0083	0.0096	0.0264	0.0088	0.0088	0.0255	0.0251	0.0013	0.0020	0.0211	5.043e-05	0.0117	0.0153	0.0080	0.0088	0.0264	0.0062	0.0062	0.0059	0.0065	0.0253	0.0059	0.0057	0.0216	0.0203	0.0013	0	0.0018	0.0248	0	0.0106	0.0136	0.0077	0.0047	0.0253	0.114	0.28646	T	0.242	0.24264	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	0.695	0.17993	N	3.28	0.06523	T	-1.93	0.48020	N	0.106	0.09914	-0.9089	0.46989	T	0.011	0.04181	T	9	0.00363034	0.00066	T	0.004476	0.10969	T	0.034	0.08419	0.324	0.30549	0.0884992946249	0.08302	0.024537132809481346	0.02404	.	.	0.391508877277	0.23882	T	0.023923	0.22444	T	-0.28398	0.10251	T	-0.645694	0.09259	T	0.0269218725694647	0.01533	T	0.00476952	0.20971	T	0.10477009	0.24768	0.11534372	0.27843	0.10477009	0.24768	0.11534372	0.27842	-5.897	0.45410	T	.	.	0.119	0.24498	B	.;.;.;.;.	.;.;.;.;.	1.430539	0.18485	13.76	0.81679202589218514	0.13806	0.05815	0.11754	N	AEFGBI	0.065066	0.12669	N	-0.815567604091794	0.12913	0.63255	-0.763042789295934	0.15402	0.8098858	0.00987751702512974	0.11927	0.562547	0.31514	0	0.614415	0.52539	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	2.4	1.25	0.20475	0.055000	0.14112	0.928000	0.22757	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.8275:0.0:0.1725:0.0	4.153	0.09711	884	0.28482	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3839.11	72	chr12	133057131	.	A	G	3839.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.190e-01;DP=1521;ExcessHet=0.1072;FS=1.683;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=0.254;SOR=0.675	GT:AD:DP:GQ:PL	0/0:60,0:60:99:0,120,1800	19	0	2	0
chr12	133121579	133121579	C	G	exonic	ZNF891	.	nonsynonymous SNV	ZNF891:NM_001277291:exon2:c.G340C:p.D114H,	.	.	419	1098	5	0	0	5	0.00227169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	.	.	.	.	3.08	T	-1.029	T	0.025	T	0.218	0.485	6.631	0.497	0.265	1.491	5.000	0.016	0.00525391171147	.	0.000399361	0.0027	0	0	0	0.0025	0.0042	0.0053	0.0022	0.0004657	72	154602	rs148080897	0.0015	0.0014	0.0014	0.0016	0.0126	0.0015	0.0014	0.0103	0.0094	9.495e-05	0.0010	0.0037	0	0.0043	0.0126	0.0014	0.0014	0.0021	0.0016	0.0016	0.0016	0.0017	0.0021	0.0015	0.0014	0.0018	0.0017	0.0001	0	0.0017	0.0026	0	0.0051	0	0.0021	0.0038	0.0006	0.008	0.58626	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.40313	L	3.08	0.08460	T	-4.32	0.76655	D	0.127	0.12055	-1.0288	0.20843	T	0.025	0.10866	T	5	0.006249815	0.00141	T	0.005254	0.13402	T	0.016	0.02506	.	.	0.043077524339	0.03247	0.05119870933458279	0.05061	0.116064697105	0.13092	0.301476657391	0.10621	T	0.059445	0.31117	T	-0.592725	0.00161	T	-0.626291	0.10698	T	0.0661600689887891	0.08102	T	0.360464	0.08297	T	0.16370904	0.36530	0.1732918	0.39646	0.16370904	0.36529	0.1732918	0.39645	-6.752	0.52201	T	.	.	0.203	0.42863	B	.	.	2.106485	0.26808	17.25	0.98436527277746133	0.41464	0.10290	0.15837	N	AEFBI	0.057132	0.10617	N	-0.535498910583918	0.20940	1.107668	-0.720208325404347	0.16457	0.8707259	2.64431072120241E-4	0.06244	0.562547	0.31514	0	0.588066	0.40923	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.46	0.497	0.16109	-0.306000	0.08217	0.107000	0.14728	0.599000	0.40250	0.000000	0.06391	0.161000	0.23262	0.235000	0.22869	0.0:0.5982:0.1806:0.2211	5.000	0.13603	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1405.98	48	chr12	133121579	.	C	G	1405.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.287;DP=925;ExcessHet=0.0000;FS=4.697;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=0.857;SOR=0.737	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1620	20	0	1	0
chr13	19633783	19633783	C	G	exonic	MPHOSPH8	.	nonsynonymous SNV	MPHOSPH8:NM_017520:exon1:c.C35G:p.A12G,	.	.	411	1107	4	0	0	4	0.00180343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.061	B	0.014	B	0.267	N	1.000	N	0.975	L	1.01	T	-1.013	T	0.082	T	0.077	2.495	14.30	1.99	0.285	1.299	3.231	0.032	0.0212192905689	0.0012	0.000998403	0.0027	0.0009	0.0005	0	0.0045	0.0036	0.0023	0.0029	0.0013648	211	154602	rs146735121	0.0015	0.0015	0.0014	0.0016	0.0025	0.0014	0.0014	0.0022	0.0021	2.995e-05	0.0002	7.725e-05	0	0.0031	0.0013	0.0015	0.0008	0.0025	0.0012	0.0013	0.0013	0.0012	0.0021	0.0011	0.0010	0.0018	0.0017	0.0002	0	6.533e-05	0	0	0.0027	0	0.0021	0.0009	0.0008	0.002	0.72154	D	0.023	0.57104	D	0.001	0.07471	B	0.001	0.04355	B	0.267291	0.03749	N	1.511360	1	0.08975	N	2.045	0.56016	M	1.01	0.41058	T	-0.99	0.26200	N	0.242	0.27316	-1.0129	0.26007	T	0.082	0.32353	T	10	0.00494346	0.00106	T	0.021219	0.43954	T	0.032	0.07718	.	.	0.370276754211	0.36643	0.14221635104878683	0.14144	0.312254783512	0.33525	0.498719632626	0.38649	T	0.02073	0.16269	T	-0.565944	0.00234	T	-0.588766	0.13773	T	0.0343777376467973	0.02701	T	0.466353	0.13696	T	0.16632646	0.36961	0.1998389	0.43886	0.16632646	0.36960	0.1998389	0.43885	-3.88	0.22002	T	.	.	0.097	0.15743	B	.	.	1.545946	0.19817	14.45	0.98258569866304224	0.39639	0.91085	0.52830	D	ALL	0.080626	0.16304	N	-0.826091289741176	0.12645	0.6177178	-0.852657992635454	0.13224	0.6848221	0.999999990107616	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.76	1.99	0.25423	0.871000	0.27675	0.190000	0.15733	0.524000	0.24156	0.003000	0.16062	0.000000	0.08366	0.016000	0.10718	0.1412:0.5774:0.1371:0.1443	3.231	0.06349	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1477.98	34	chr13	19633783	.	C	G	1477.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.880e-01;DP=855;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.19;ReadPosRankSum=0.477;SOR=0.681	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1417	20	0	1	0
chr13	19642121	19642121	G	A	exonic	MPHOSPH8	.	nonsynonymous SNV	MPHOSPH8:NM_017520:exon2:c.G220A:p.V74I,	.	.	509	1009	3	1	0	5	0.00247158	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.002	B	0.005	B	0.103	N	0.828	N	1.045	L	1.0	T	-0.961	T	0.060	T	0.032	-0.448	1.922	-3.91	-0.796	1.298	12.897	0.098	0.00363378452957	0.0009	.	0.0008	0	0.0008	0	0	0.0013	0.0022	6.384e-05	0.0006986	108	154602	rs142067434	0.0008	0.0008	0.0008	0.0008	0.0028	0.0007	0.0007	0.0016	0.0013	6.66e-05	0.0012	0.0003	0	2.035e-05	0.0028	0.0009	0.0011	7.586e-05	0.0007	0.0007	0.0006	0.0008	0.0021	0.0006	0.0006	0.0015	0.0013	0.0002	0.0011	0.0021	0	0	0	0.0038	0.0010	0.0015	0	1.0	0.00964	T	0.687	0.05976	T	0.002	0.09854	B	0.005	0.11217	B	0.102661	0.19784	N	0.572502	0.828031	0.28796	N	0.49	0.13296	N	1.0	0.41392	T	-0.12	0.08809	N	0.046	0.01825	-0.9614	0.38916	T	0.060	0.25127	T	10	0.010495633	0.00233	T	0.003634	0.08340	T	0.098	0.28162	.	.	0.268702046668	0.26493	0.20425201070185647	0.20342	0.19791807694	0.22159	0.33217549324	0.15263	T	0.120253	0.44237	T	-0.608402	0.00130	T	-0.692255	0.06260	T	0.00389830637925087	0.00041	T	0.825517	0.48813	T	0.05246797	0.09791	0.047909882	0.07005	0.05246797	0.09790	0.047909882	0.07005	-2.863	0.08778	T	.	.	0.06	0.00934	B	.	.	0.699781	0.10684	7.381	0.36165035391322187	0.02311	0.32903	0.24698	N	AEFBI	0.086150	0.17466	N	-0.933858889026502	0.10058	0.478834	-0.929144688409752	0.11408	0.5809976	0.381856511312997	0.19968	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.24	-3.91	0.03892	1.326000	0.33341	0.364000	0.17606	0.676000	0.76740	1.000000	0.71638	0.759000	0.26609	0.896000	0.43308	0.4265:0.0:0.5735:0.0	12.897	0.57496	964	0.07719	Chromo domain|Chromo/chromo shadow domain|Chromo/chromo shadow domain|Chromo/chromo shadow domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1051.98	39	chr13	19642121	.	G	A	1051.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.05;DP=939;ExcessHet=0.0000;FS=3.713;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.95;MQRankSum=0.943;QD=10.52;ReadPosRankSum=2.74;SOR=1.085	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr13	19705699	19705699	T	C	exonic	PSPC1	.	nonsynonymous SNV	PSPC1:NM_001354909:exon8:c.A1349G:p.N450S	.	.	428	1031	63	0	0	63	0.0296471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.003	B	0.004	B	0.000	D	0.875	D	1.355	L	2.52	T	-1.046	T	0.025	T	0.081	1.269	10.14	3.89	0.878	4.282	8.371	0.089	0.00390126569449	.	.	0.0016	0.0038	0.0005	0	0.0003	0.0020	0.0014	0.0007	3.84e-05	1	26028	rs747690097	0.0006	0.0043	0.0006	0.0006	0.0038	0.0005	0.0005	0.0025	0.0021	0.0012	0.0008	0.0008	0	7.566e-05	0.0038	0.0005	0.0005	0.0011	6.656e-05	0.0013	6.514e-05	6.805e-05	0.0002	3.56e-05	2.747e-05	9.669e-05	7.037e-05	0.0002	0	0.0001	0	0	0	0	0	0	0	0.628	0.05183	T	0.791	0.04181	T	0.003	0.11197	B	0.004	0.10090	B	0.000005	0.62929	D	0.141833	0.875453	0.35645	D	2.175	0.60977	M	2.52	0.14160	T	-0.71	0.20145	N	0.389	0.43029	-1.0460	0.15534	T	0.025	0.10464	T	10	0.01992461	0.00451	T	0.003901	0.09180	T	0.089	0.25827	.	.	0.263709349026	0.25991	0.31023299681423644	0.30936	1.58326423833	0.88413	0.560328662395	0.47314	T	0.023946	0.18187	T	-0.271186	0.11624	T	-0.627316	0.10619	T	0.0115631071898478	0.00175	T	0.851615	0.53551	D	0.048064068	0.08317	0.046961877	0.06662	0.048064068	0.08317	0.046961877	0.06661	-3.543	0.17039	T	.	.	0.066	0.03060	B	.;.	.;.	2.734902	0.35810	19.99	0.97863726497321746	0.36486	0.94119	0.60170	D	AEBI	0.373470	0.45873	N	-0.321271564085281	0.28342	1.562413	-0.148788062981382	0.33455	1.913874	0.706191074588238	0.22762	0.732398	0.92422	0	0.724815	0.89359	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	5.08	3.89	0.44098	3.910000	0.56084	4.174000	0.42293	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1543:0.0:0.8457	8.371	0.31578	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	439.72	33	chr13	19705699	.	T	C	439.72	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-5.880e-01;DP=1098;ExcessHet=0.3300;FS=2.966;InbreedingCoeff=-0.0761;MLEAC=3;MLEAF=0.071;MQ=46.46;MQRankSum=-4.174e+00;QD=1.07;ReadPosRankSum=-1.520e+00;SOR=1.114	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1319	18	0	3	0
chr13	19751378	19751378	T	C	exonic	PSPC1	.	nonsynonymous SNV	PSPC1:NM_001354908:exon4:c.A860G:p.K287R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.106	B	0.049	B	0.000	D	1.000	D	1.65	L	2.08	T	-1.111	T	0.054	T	0.21	3.154	16.55	4.83	1.943	4.187	14.705	0.105	0.00944355419823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.857e-06	6.841e-06	4.143e-06	5.578e-06	1.216e-05	2.02e-06	1.3e-06	1.95e-06	1.28e-06	0	0	0	0	0	0	5.431e-06	0	1.216e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.36912	T	0.218	0.26066	T	0.106	0.26037	B	0.049	0.25116	B	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.035	0.55589	M	2.08	0.20255	T	-2.03	0.46673	N	0.175	0.31478	-1.1105	0.03027	T	0.054	0.22808	T	10	0.13762301	0.26179	T	0.009444	0.24739	T	0.105	0.29889	0.33	0.31519	0.223474106383	0.21959	0.44563922704505576	0.44481	0.855388780065	0.68728	0.786740779877	0.79946	T	0.091746	0.38860	T	-0.185379	0.22939	T	-0.50406	0.21926	T	0.640917122364044	0.38076	D	0.927007	0.73102	D	0.48643845	0.66290	0.39524958	0.64197	0.48643845	0.66290	0.39524958	0.64197	-7.799	0.59692	D	.	.	0.109	0.20819	B	.;.	.;.	4.145155	0.62139	24.4	0.99827420761190333	0.90939	0.92748	0.56449	D	AEFGBI	0.462400	0.51176	N	0.00668313770960222	0.42159	2.534945	0.146047658156862	0.46932	2.931338	0.915974049894729	0.26499	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.83	4.83	0.61880	4.209000	0.58291	7.808000	0.69345	0.652000	0.53365	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.705	0.68796	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1197.98	34	chr13	19751378	.	T	C	1197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.350e-01;DP=823;ExcessHet=0.0000;FS=1.625;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.75;MQRankSum=0.555;QD=12.10;ReadPosRankSum=1.51;SOR=0.912	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1159	20	0	1	0
chr13	19824950	19824950	T	C	exonic	ZMYM5	.	nonsynonymous SNV	ZMYM5:NM_001142684:exon8:c.A1537G:p.I513V,	.	.	433	1085	3	1	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.0	B	0.0	B	0.061	N	1.000	N	1.39	L	2.39	T	-1.031	T	0.025	T	0.038	-0.389	2.177	-4.26	-1.097	-2.221	5.724	0.008	0.00117600579787	.	0.000199681	3.289e-05	0.0001	0	0	0.0002	2.023e-05	0	0	2.59e-05	4	154602	rs545110086	1.154e-05	1.026e-05	1.144e-05	1.165e-05	0.0002	6.7e-06	5.24e-06	5.31e-06	3.87e-06	3.804e-05	0	0	0	0	0.0002	1.05e-05	2.277e-05	1.208e-05	1.969e-05	1.968e-05	2.569e-05	1.343e-05	4.81e-05	5.24e-06	2.45e-06	7.97e-06	2.98e-06	4.81e-05	0	0	0	0	0	0	1.47e-05	0	0	0.462	0.08685	T	0.419	0.14326	T	0.0	0.02946	B	0.0	0.01387	B	0.061233	0.22188	N	0.468967	1	0.08975	N	0.805	0.20218	L	2.39	0.15724	T	0.14	0.06026	N	0.018	0.00252	-1.0311	0.20099	T	0.025	0.10598	T	10	0.036108524	0.01893	T	0.001176	0.01484	T	0.008	0.00669	0.25	0.18757	0.0401082797425	0.02173	.	.	.	.	0.30522865057	0.11186	T	0.005366	0.14518	T	-0.58829	0.00172	T	-0.846146	0.01010	T	0.00957266800105572	0.00124	T	0.277372	0.04781	T	0.018683542	0.00391	0.025333714	0.00574	0.018683542	0.00391	0.025333714	0.00574	-3.054	0.10775	T	.	.	0.060	0.00904	B	.;.	.;.	-0.397750	0.02222	0.224	0.50100476631501911	0.04325	0.00222	0.01252	N	AEFDBI	0.015971	0.00331	N	-1.19915633273981	0.05014	0.2275657	-1.3021320916165	0.04403	0.2075931	0.0357733625486678	0.14215	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	2.62	-4.26	0.03497	-1.736000	0.01944	-6.245000	0.01453	-0.274000	0.06627	0.000000	0.06391	0.000000	0.08366	0.339000	0.25409	0.1828:0.6116:0.0:0.2056	5.724	0.17272	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1599.98	38	chr13	19824950	.	T	C	1599.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.546e+00;DP=915;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=-1.790e-01;SOR=0.700	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	20	0	1	0
chr13	19837799	19837799	T	G	exonic	ZMYM5	.	nonsynonymous SNV	ZMYM5:NM_001039650:exon6:c.A895C:p.N299H	.	.	461	1034	26	1	0	28	0.0133588	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.887	P	0.492	P	0.001	D	1.000	N	.	.	2.31	T	-1.045	T	0.025	T	0.085	0.566	7.061	-9.5	-3.177	0.174	3.329	0.082	.	0.0006	0.00399361	0.0025	0	0.0020	0	0	0.0010	0.0044	0.0127	0.0022315	345	154602	rs144354836	0.0012	0.0013	0.0008	0.0016	0.0128	0.0012	0.0012	0.0122	0.0119	9.402e-05	0.0013	0.0042	2.547e-05	1.876e-05	0.0061	0.0004	0.0020	0.0128	0.0009	0.0009	0.0009	0.0008	0.0122	0.0007	0.0007	0.0097	0.0088	9.619e-05	0.0022	0.0009	0.0046	0	0	0.0034	0.0005	0.0009	0.0122	0.013	0.65419	D	0.006	0.70582	D	0.887	0.48784	P	0.492	0.47401	P	0.000714	0.42254	D	0.265534	0.999989	0.54805	D	.	.	.	2.31	0.22474	T	-1.59	0.42575	N	0.193	0.21188	-1.0447	0.15913	T	0.025	0.10509	T	9	0.004525453	0.00093	T	.	.	.	0.082	0.23913	.	.	0.0297737177859	0.01360	0.08321538671832751	0.08255	0.0238801452212	0.02421	0.238329708576	0.02642	T	0.003669	0.21243	T	-0.621564	0.00108	T	-0.654579	0.08636	T	0.0473125616729332	0.05021	T	0.370263	0.08727	T	0.046684273	0.07854	0.027656168	0.00936	0.046684273	0.07854	0.027656168	0.00936	-6.003	0.46305	T	.	.	0.086	0.10594	B	.;.;.	.;.;.	0.105731	0.05063	1.604	0.87662850994616004	0.17390	0.20679	0.21129	N	AEFBI	0.036843	0.04973	N	-1.44914776504721	0.02223	0.09795081	-1.66937787858956	0.01279	0.05767558	0.9999909664443	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	4.75	-9.5	0.00492	0.092000	0.14905	-5.274000	0.01780	-0.695000	0.04090	0.070000	0.22072	0.000000	0.08366	0.000000	0.00833	0.1719:0.3628:0.088:0.3773	3.329	0.06664	917	0.20147	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1652.11	39	chr13	19837799	.	T	G	1652.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.07;DP=878;ExcessHet=0.1072;FS=2.099;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.39;ReadPosRankSum=-5.690e-01;SOR=0.532	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1262	19	0	2	0
chr13	20189095	20189095	T	C	exonic	GJB2	.	nonsynonymous SNV	GJB2:NM_004004:exon2:c.A487G:p.M163V,	Bart-Pumphrey syndrome, Autosomal dominant;Deafness, autosomal dominant 3A, Autosomal dominant;Deafness, autosomal recessive 1A, Autosomal recessive, Digenic dominant;Hystrix-like ichthyosis with deafness, Autosomal dominant;Keratitis-ichthyosis-deafness syndrome, Autosomal dominant;Keratoderma, palmoplantar, with deafness, Autosomal dominant;Vohwinkel syndrome, Autosomal dominant	YES	0	1517	5	0	0	5	0.00164528	.	.	34240	Nonsyndromic_genetic_hearing_loss|not_provided|Hearing_impairment|not_specified|Autosomal_dominant_nonsyndromic_hearing_loss_3A|Autosomal_recessive_nonsyndromic_hearing_loss_1A	MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666|MedGen:CN169374|MONDO:MONDO:0011103,MedGen:C2675750,OMIM:601544,Orphanet:90635|MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	0.91	P	0.493	P	0.000	D	1.000	A	1.065	L	-3.46	D	0.757	D	0.753	D	0.95	3.688	18.74	5.47	2.199	7.948	15.850	0.869	0.136638597594	.	0.000399361	0.0002	0	8.669e-05	0	0	0.0001	0	0.0006	0.0001423	22	154602	rs80338949	9.098e-05	9.098e-05	6.262e-05	0.0001	0.0010	7.824e-05	7.305e-05	0.0007	0.0007	2.987e-05	0	3.826e-05	2.519e-05	0	0.0010	3.058e-05	0.0002	0.0009	0.0001	0.0001	8.994e-05	0.0001	0.0004	7.086e-05	5.744e-05	7.293e-05	3.03e-05	0	0.0077	6.538e-05	0	0	0	0.0034	8.819e-05	0	0.0004	0.228	0.18434	T	0.168	0.30631	T	0.91	0.50240	P	0.493	0.47443	P	0.000000	0.84330	D	0.000000	1	0.81001	A	1.21	0.30464	L	-3.46	0.94508	D	-2.16	0.48850	N	0.931	0.93605	0.757	0.93876	D	0.753	0.91584	D	9	0.22010407	0.38698	T	0.136639	0.81913	D	0.869	0.96059	.	.	0.90055262458	0.89956	0.888205943506865	0.88789	0.0819803898389	0.09232	0.548286676407	0.45616	T	0.698456	0.91296	D	0.169962	0.71120	D	0.382208	0.91508	D	0.222906827926636	0.21608	T	0.890911	0.62511	D	0.6709068	0.76481	0.58499855	0.75935	0.71046257	0.78634	0.63297105	0.78583	-4.344	0.28789	T	0.2314200946753116	0.31317	0.367	0.57665	A	.;.;.	.;.;.	3.774401	0.54236	23.5	0.99279528565013442	0.57869	0.97246	0.73556	D	AEFBCI	0.961360	0.98255	D	0.495358156547513	0.66819	4.999655	0.569371384536678	0.72757	5.86017	0.999999999999769	0.74766	0.59774	0.34471	0	0.61073	0.52368	0	0.61531	0.40942	0	0.63947	0.58350	0	.	.	5.47	5.47	0.80345	6.201000	0.72052	3.537000	0.38984	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.0:1.0	15.850	0.78700	682	0.59757	Connexin, N-terminal|Gap junction protein, cysteine-rich domain;Connexin, N-terminal|Gap junction protein, cysteine-rich domain;Connexin, N-terminal|Gap junction protein, cysteine-rich domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2339.98	39	chr13	20189095	.	T	C	2339.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.193e+00;DP=998;ExcessHet=0.0000;FS=0.577;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.27;ReadPosRankSum=-3.830e-01;SOR=0.624	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr13	20189125	20189125	C	T	exonic	GJB2	.	nonsynonymous SNV	GJB2:NM_004004:exon2:c.G457A:p.V153I,	Bart-Pumphrey syndrome, Autosomal dominant;Deafness, autosomal dominant 3A, Autosomal dominant;Deafness, autosomal recessive 1A, Autosomal recessive, Digenic dominant;Hystrix-like ichthyosis with deafness, Autosomal dominant;Keratitis-ichthyosis-deafness syndrome, Autosomal dominant;Keratoderma, palmoplantar, with deafness, Autosomal dominant;Vohwinkel syndrome, Autosomal dominant	YES	0	1428	89	5	0	99	0.0335025	.	.	53921	Autosomal_dominant_nonsyndromic_hearing_loss_3A|Autosomal_recessive_nonsyndromic_hearing_loss_1A|Ichthyosis,_hystrix-like,_with_hearing_loss|Nonsyndromic_genetic_hearing_loss|not_specified|Mutilating_keratoderma|Palmoplantar_keratoderma-deafness_syndrome|Knuckle_pads,_deafness_AND_leukonychia_syndrome|Autosomal_dominant_keratitis-ichthyosis-hearing_loss_syndrome|X-linked_mixed_hearing_loss_with_perilymphatic_gusher|not_provided|Hearing_loss,_autosomal_recessive	MONDO:MONDO:0011103,MedGen:C2675750,OMIM:601544,Orphanet:90635|MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290,Orphanet:90636|MONDO:MONDO:0011245,MedGen:C1865234,OMIM:602540,Orphanet:477|MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884|MedGen:CN169374|MONDO:MONDO:0007422,MedGen:C0265964,OMIM:124500,Orphanet:494|MONDO:MONDO:0007852,MedGen:C1835672,OMIM:148350,Orphanet:2202|MONDO:MONDO:0007866,MedGen:C0266004,OMIM:149200,Orphanet:2698|MONDO:MONDO:0007850,MedGen:C0265336,OMIM:148210,Orphanet:477|MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400,Orphanet:383|MedGen:C3661900|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.003	B	0.007	B	0.003	N	0.816	D	0.035	N	-3.69	D	-0.190	T	0.500	T	0.231	-1.133	0.116	5.47	2.723	0.584	9.616	0.384	.	0.0022	0.0131789	0.0106	0.0003	0.0021	0.0001	0.0027	0.0045	0.0133	0.0559	0.0093789	1450	154602	rs111033186	0.0056	0.0056	0.0039	0.0073	0.0532	0.0055	0.0055	0.0519	0.0514	0.0004	0.0015	0.0125	0.0002	0.0024	0.0130	0.0023	0.0065	0.0532	0.0041	0.0041	0.0033	0.0049	0.0537	0.0038	0.0037	0.0483	0.0463	0.0002	0	0.0018	0.0112	0.0002	0.0011	0.0068	0.0039	0.0024	0.0537	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.007	0.12992	B	0.002985	0.35606	N	0.194247	0.81569	0.34703	D	-0.305	0.03614	N	-3.69	0.95317	D	0.21	0.04776	N	0.037	0.01347	-0.1897	0.77935	T	0.500	0.81081	T	10	0.0035775304	0.00065	T	.	.	.	0.384	0.70112	.	.	.	.	0.7986003561244597	0.79813	0.0344876997802	0.03621	0.396479845047	0.24579	T	0.514834	0.82919	D	-0.343221	0.05168	T	-0.22706	0.52055	T	0.00172557914567628	0.00018	T	0.775922	0.40781	T	0.118389055	0.27895	0.07755717	0.17290	0.15799402	0.35569	0.084154546	0.19337	-2.737	0.07619	T	0.08005930382270487	0.04003	0.074	0.05188	B	.;.;.	.;.;.	2.535416	0.32792	19.15	0.75964087230707467	0.11280	0.42497	0.26891	N	AEFBHCI	0.189679	0.31693	N	-0.689546288893229	0.16319	0.8303233	-0.521671695966085	0.21565	1.167199	0.999999795805695	0.74766	0.59774	0.34471	0	0.61073	0.52368	0	0.61531	0.40942	0	0.63947	0.58350	0	.	.	5.47	5.47	0.80345	0.240000	0.17822	6.006000	0.52567	0.599000	0.40250	0.001000	0.13787	1.000000	0.68203	0.271000	0.23793	0.0:0.7829:0.1429:0.0743	9.616	0.38854	682	0.59757	Connexin, N-terminal|Gap junction protein, cysteine-rich domain;Connexin, N-terminal|Gap junction protein, cysteine-rich domain;Connexin, N-terminal|Gap junction protein, cysteine-rich domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	2607.98	39	chr13	20189125	.	C	T	2607.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.04;DP=1069;ExcessHet=0.0000;FS=4.844;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.85;ReadPosRankSum=-1.473e+00;SOR=0.496	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr13	20512513	20512513	T	C	exonic	CRYL1	.	nonsynonymous SNV	CRYL1:NM_001363647:exon2:c.A79G:p.S27G	.	.	8	1511	3	0	0	3	0.000991736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.207	B	0.149	B	0.000	N	1.000	D	1.31	L	-1.09	T	-0.806	T	0.282	T	0.28	1.647	11.47	3.24	0.438	0.841	4.998	0.166	0.0238275151096	0.0003	0.000199681	0.0002	0	0.0004	0	0	0.0002	0	0.0003	0.0001876	29	154602	rs201748334	0.0001	0.0001	9.121e-05	0.0001	0.0019	9.05e-05	8.532e-05	0.0011	0.0008	0	0.0001	0.0013	0	0	0.0019	4.676e-05	0.0002	0.0004	0.0001	0.0001	0.0001	0.0002	0.0008	8.657e-05	7.25e-05	0.0003	0.0002	0	0	0.0001	0.0014	0	0	0.0034	0.0001	0.0005	0.0008	0.244	0.17468	T	0.485	0.12421	T	0.207	0.29891	B	0.149	0.34106	B	0.000001	0.84330	N	0.126220	0.99937	0.50595	D	1.52	0.38360	L	-1.09	0.77206	T	-1.03	0.28084	N	0.186	0.20262	-0.8065	0.54760	T	0.282	0.65359	T	10	0.043402553	0.03186	T	0.023828	0.46806	T	0.166	0.42578	.	.	0.574533306093	0.57122	0.53266866701041	0.53191	0.231166425372	0.25661	0.490114033222	0.37455	T	0.253714	0.62428	T	-0.269384	0.11826	T	-0.328536	0.41631	T	0.0275458127256736	0.01622	T	0.777122	0.42203	T	0.20102571	0.42098	0.07880914	0.17684	0.20102571	0.42098	0.07880914	0.17684	-8.392	0.63712	D	.	.	0.076	0.13830	B	.;.;.;.	.;.;.;.	1.848353	0.23484	16.03	0.92254471279087458	0.21634	0.66991	0.33272	D	AEFBI	0.264074	0.38149	N	-0.237997059770668	0.31585	1.772544	-0.114564582281258	0.34802	2.006075	0.918479003275392	0.26573	0.706298	0.61202	0	0.709663	0.81188	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	5.65	3.24	0.36257	0.664000	0.24749	1.142000	0.24413	-0.674000	0.04282	1.000000	0.71638	1.000000	0.68203	0.273000	0.23843	0.1359:0.152:0.0:0.7121	4.998	0.13597	728	0.54609	3-hydroxyacyl-CoA dehydrogenase, NAD binding;3-hydroxyacyl-CoA dehydrogenase, NAD binding;3-hydroxyacyl-CoA dehydrogenase, NAD binding;3-hydroxyacyl-CoA dehydrogenase, NAD binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1661.11	73	chr13	20512513	.	T	C	1661.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.48;DP=819;ExcessHet=0.1072;FS=3.128;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.58;ReadPosRankSum=0.128;SOR=0.522	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	19	0	2	0
chr13	20983389	20983389	C	T	exonic	LATS2	.	nonsynonymous SNV	LATS2:NM_014572:exon5:c.G2317A:p.A773T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	1.375	L	3.08	T	-1.174	T	0.058	T	0.753	5.201	33	5.05	2.633	7.568	18.664	0.405	0.0161835049468	.	.	3.295e-05	0	0	0	0	5.994e-05	0	0	3.23e-05	5	154602	rs775075244	5.814e-05	5.814e-05	4.9e-05	6.738e-05	7.014e-05	4.809e-05	4.431e-05	5.71e-05	5.28e-05	0	0	0	2.519e-05	1.872e-05	0	7.014e-05	6.623e-05	1.159e-05	7.895e-05	7.883e-05	6.43e-05	9.43e-05	0.0002	4.502e-05	3.516e-05	9.048e-05	7.012e-05	0	0	0	0	0	9.455e-05	0	0.0002	0	0	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000002	0.62929	D	0.000000	1	0.81001	D	1.54	0.38927	L	3.08	0.08460	T	-3.91	0.73042	D	0.891	0.89020	-1.1736	0.00473	T	0.058	0.24354	T	10	0.86170554	0.85394	D	0.016184	0.37308	T	0.405	0.71791	.	.	0.633585638608	0.63058	0.7524685061261687	0.75193	1.50291441138	0.87067	0.714168787003	0.69198	T	0.352541	0.71996	T	-0.190141	0.22238	T	-0.165962	0.57812	T	0.707760870456696	0.41091	D	0.957071	0.83814	D	0.63645065	0.74642	0.67439634	0.80885	0.63645065	0.74643	0.67439634	0.80886	-10.783	0.78454	D	.	.	0.418	0.60555	A	.	.	5.230582	0.87800	29.4	0.99927923256281337	0.99163	0.98794	0.86939	D	AEFDGBI	0.888015	0.82075	D	0.724611740978345	0.81244	7.477343	0.723730868230033	0.84181	8.220873	0.999999999999984	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.05	5.05	0.67566	7.858000	0.85341	6.010000	0.52630	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	18.664	0.91440	920	0.19381	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2810.98	35	chr13	20983389	.	C	T	2810.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.278e+00;DP=932;ExcessHet=0.0000;FS=4.933;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.65;ReadPosRankSum=0.087;SOR=0.435	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1596	20	0	1	0
chr13	21155150	21155150	-	CAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTA	exonic	SKA3	.	stopgain	SKA3:NM_001166017:exon8:c.1119_1120insTAAAAGGTTCCTTAAACATGGACAGAACATCCGAGATGTCAGCAACAAAGAAAACTG:p.K374_R388del,	.	.	433	1072	3	0	14	17	0.0013973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0002	0.0002	0.0005	0.0003	0.0003	0	0.0003	7.68e-05	2	26028	.	0.0008	0.0009	0.0004	0.0012	0.0033	0.0008	0.0008	0.0022	0.0018	0.0002	0.0005	0.0003	0.0018	0.0007	0.0033	0.0009	0.0009	0.0004	0.0005	0.0010	0.0003	0.0008	0.0017	0.0004	0.0004	0.0008	0.0006	0.0002	0	0.0008	0.0006	0.0002	0.0010	0	0.0006	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	659.05	34	chr13	21155150	.	T	TCAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTA,TCAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTACTGGGTGGCA	659.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=3.61;DP=920;ExcessHet=0.1072;FS=11.162;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=4.67;ReadPosRankSum=-2.530e-01;SOR=1.561	GT:AD:DP:GQ:PL	0/0:35,0,0:35:99:0,99,1485,99,1485,1485	19	0	1	0
chr13	21155150	21155150	-	CAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTACTGGGTGGCA	exonic	SKA3	.	stoploss	SKA3:NM_001166017:exon8:c.1119_1120insTGCCACCCAGTAAAAGGTTCCTTAAACATGGACAGAACATCCGAGATGTCAGCAACAAAGAAAACTG:p.K374Cfs*46	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0005	0.0006	0.0020	0	0.0009	0.0013	0.0003	.	.	.	.	1.987e-05	2.326e-05	2.181e-05	1.791e-05	2.522e-05	1.394e-05	1.205e-05	3e-07	1.1e-07	0	0	0	2.522e-05	0.0005	0	1.801e-06	0	0	0.0012	0.0022	0.0009	0.0015	0.0037	0.0011	0.0010	0.0024	0.0020	0.0005	0	0.0017	0.0012	0.0019	0.0025	0	0.0011	0.0038	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	659.05	34	chr13	21155150	.	T	TCAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTA,TCAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTACTGGGTGGCA	659.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=3.61;DP=920;ExcessHet=0.1072;FS=11.162;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=4.67;ReadPosRankSum=-2.530e-01;SOR=1.561	GT:AD:DP:GQ:PL	0/0:35,0,0:35:99:0,99,1485,99,1485,1485	19	0	1	0
chr13	21155151	21155151	-	AGTTTTCTTTGT	splicing	SKA3	NM_145061:exon9:c.1239-1->ACAAAGAAAACT;NM_001166017:exon8:c.1120-1->ACAAAGAAAACT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0021	0.0009	0.0009	0.0032	0.0009	0.0009	0.0027	0.0025	0.0005	0.0008	0.0015	0.0032	0.0040	0.0007	0.0007	0.0013	0.0004	0.0039	0.0049	0.0039	0.0040	0.0110	0.0037	0.0036	0.0087	0.0078	0.0011	0.0022	0.0047	0.0035	0.0110	0.0102	0	0.0038	0.0085	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1065.07	34	chr13	21155151	.	C	CAGTTTTCTTTGT	1065.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.40;DP=903;ExcessHet=0.1072;FS=15.292;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=7.45;ReadPosRankSum=1.18;SOR=1.065	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485	19	0	2	0
chr13	21155744	21155744	C	A	exonic	SKA3	.	nonsynonymous SNV	SKA3:NM_145061:exon8:c.G1187T:p.R396M,	.	.	424	1074	24	0	0	24	0.0110497	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.699	P	0.149	B	0.002	N	1.000	N	0	N	1.93	T	-1.023	T	0.022	T	0.194	2.214	13.36	-7.57	-1.313	-0.988	1.636	0.044	0.00655732284586	0.0025	0.000998403	0.0032	0.0002	0.0024	0	0.0006	0.0040	0.0011	0.0048	0.0028395	439	154602	rs142890023	0.0026	0.0027	0.0025	0.0028	0.0078	0.0026	0.0025	0.0060	0.0054	0.0004	0.0030	0.0257	0	0.0003	0.0078	0.0021	0.0039	0.0042	0.0027	0.0027	0.0026	0.0028	0.0065	0.0025	0.0024	0.0055	0.0051	0.0004	0	0.0065	0.0283	0	0.0002	0	0.0026	0.0029	0.0021	0.115	0.28520	T	0.114	0.36765	T	0.699	0.41837	P	0.149	0.34106	B	0.002066	0.00855	N	3.612860	1	0.08975	N	1.1	0.28011	L	1.93	0.22881	T	0.05	0.06369	N	0.266	0.30118	-1.0233	0.22638	T	0.022	0.09330	T	10	0.0023711026	0.00035	T	0.006557	0.17301	T	0.044	0.11924	.	.	0.0611884634855	0.05136	0.1217849557672996	0.12105	0.26630172821	0.29171	0.234472036362	0.02315	T	0.002509	0.01904	T	-0.574407	0.00208	T	-0.59871	0.12919	T	0.0205916437736956	0.00759	T	0.257374	0.04056	T	0.04667294	0.07851	0.018296078	0.00051	0.04667294	0.07850	0.018296078	0.00051	-3.985	0.23578	T	.	.	0.102	0.18206	B	.	.	0.787864	0.11583	8.173	0.87692296343027942	0.17412	0.00902	0.03533	N	AEFBI	0.038169	0.05362	N	-1.07229275287915	0.07157	0.331655	-1.21817822696198	0.05618	0.2681761	0.999906649784887	0.45458	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.05	-7.57	0.01176	-1.136000	0.03334	0.074000	0.14299	0.535000	0.24933	0.000000	0.06391	0.000000	0.08366	0.852000	0.40310	0.2247:0.3987:0.1781:0.1985	1.636	0.02577	630	0.65016	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1232.98	42	chr13	21155744	.	C	A	1232.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.302e+00;DP=1150;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.62;ReadPosRankSum=-5.860e-01;SOR=0.727	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	20	0	1	0
chr13	21155813	21155813	-	GGAG	splicing	SKA3	NM_145061:exon8:c.1120-2->CTCC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.943e-05	4.936e-05	2.111e-05	1.784e-05	.	1.242e-05	1.001e-05	.	.	0	0	0	0	0.0004	0	0	0	0	0.0005	0.0005	0.0003	0.0006	0.0022	0.0004	0.0003	0.0012	0.0009	0.0002	0	0.0007	0.0003	0.0006	0.0010	0	0.0004	0.0015	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	23464.59	54	chr13	21155813	.	T	TA,TAA,TGGAG	23464.59	.	AC=16,16,1;AF=0.381,0.381,0.024;AN=42;BaseQRankSum=-6.120e-01;DP=1495;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0104;MLEAC=16,16,1;MLEAF=0.381,0.381,0.024;MQ=60.00;MQRankSum=0.00;QD=23.19;ReadPosRankSum=0.381;SOR=0.664	GT:AD:DP:GQ:PL	0/1:22,22,0,0:44:99:442,0,435,508,501,1009,508,501,1009,1009	1	1	4	0
chr13	21158126	21158126	-	AAAGCTATGCTGTTCTTTGTAGATGGAATTTTCAAACCAGGAGTACAGAATGTAGGTACCAAAGGAGAG	splicing	SKA3	NM_145061:exon7:c.916-1->CTCTCCTTTGGTACCTACATTCTGTACTCCTGGTTTGAAAATTCCATCTACAAAGAACAGCATAGCTTT;NM_001166017:exon7:c.916-1->CTCTCCTTTGGTACCTACATTCTGTACTCCTGGTTTGAAAATTCCATCTACAAAGAACAGCATAGCTTT	.	.	.	.	441	1022	31	2	26	61	0.016835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0001	0.0003	0.0004	0	0.0002	0	0.0004	.	.	.	.	0.0001	0.0001	9.436e-05	0.0002	0.0007	0.0001	0.0001	0.0003	0.0002	0	2.253e-05	3.894e-05	0.0003	0.0011	0.0007	9.754e-05	0.0002	8.265e-05	0.0002	0.0004	0.0002	0.0003	0.0004	0.0002	0.0002	0.0002	0.0001	9.645e-05	0	0.0004	0	0.0002	0.0008	0	0.0003	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2496.07	43	chr13	21158126	.	C	CAAAGCTATGCTGTTCTTTGTAGATGGAATTTTCAAACCAGGAGTACAGAATGTAGGTACCAAAGGAGAG	2496.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.61;DP=982;ExcessHet=0.1072;FS=12.271;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=17.83;ReadPosRankSum=0.273;SOR=0.239	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1385	19	0	2	0
chr13	21159988	21159988	-	ACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGA	splicing	SKA3	NM_145061:exon6:c.830-1->TCCAGGCTCAATGATAATGTTTTTGCCACTCCCAGCCCCATCATCCAGCAGTTGGAAAAAAGT;NM_001166017:exon6:c.830-1->TCCAGGCTCAATGATAATGTTTTTGCCACTCCCAGCCCCATCATCCAGCAGTTGGAAAAAAGT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	.	0.0003	0.0003	0.0002	0.0005	0.0019	0.0003	0.0003	0.0011	0.0008	3.125e-05	9.925e-05	0.0002	0.0007	0.0005	0.0019	0.0003	0.0002	0.0002	7.913e-05	0.0002	9.03e-05	6.744e-05	0.0002	4.511e-05	3.524e-05	7.94e-05	6.017e-05	0	0	0	0	0.0002	0	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	4035.12	33	chr13	21159988	.	C	CACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGA,CACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGATTCTG	4035.12	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=3.98;DP=1193;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=-1.630e+00;SOR=0.714	GT:AD:DP:GQ:PL	0/0:36,0,0:36:99:0,102,1530,102,1530,1530	17	0	1	0
chr13	21159988	21159988	-	ACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGATTCTG	splicing	SKA3	NM_145061:exon6:c.830-1->CAGAATCCAGGCTCAATGATAATGTTTTTGCCACTCCCAGCCCCATCATCCAGCAGTTGGAAAAAAGT;NM_001166017:exon6:c.830-1->CAGAATCCAGGCTCAATGATAATGTTTTTGCCACTCCCAGCCCCATCATCCAGCAGTTGGAAAAAAGT	.	.	.	.	437	1077	1	0	7	8	0.000464037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0009	0.0005	0.0013	0.0016	0.0009	0.0009	0.0013	0.0012	0.0001	0.0004	0.0002	0.0016	0.0036	0.0011	0.0009	0.0009	0.0006	9.245e-05	0.0006	5.162e-05	0.0001	0.0004	5.554e-05	4.386e-05	6.934e-05	5.109e-05	2.419e-05	0	6.588e-05	0	0.0004	9.537e-05	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	4035.12	33	chr13	21159988	.	C	CACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGA,CACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGATTCTG	4035.12	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=3.98;DP=1193;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=-1.630e+00;SOR=0.714	GT:AD:DP:GQ:PL	0/0:36,0,0:36:99:0,102,1530,102,1530,1530	17	0	1	0
chr13	21177203	21177203	A	G	exonic	MRPL57	.	nonsynonymous SNV	MRPL57:NM_024026:exon2:c.A287G:p.N96S,	.	.	.	.	.	.	.	.	.	.	.	2334787	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.047	B	0.025	B	0.000	D	0.968	N	2.3	M	.	.	-1.001	T	0.104	T	0.056	2.921	15.74	-1.3	-0.086	2.840	2.359	0.093	0.0183896551743	0.0005	.	0.0004	0.0004	0.0002	0.0008	0.0003	0.0004	0	0.0002	0.0003169	49	154602	rs141711047	0.0004	0.0004	0.0004	0.0004	0.0007	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0	0.0005	0.0007	0.0007	0.0004	0.0006	0.0003	0.0003	0.0003	0.0004	0.0003	0.0005	0.0003	0.0002	0.0003	0.0003	0.0005	0	0.0003	0	0.0004	0.0003	0	0.0003	0	0.0002	0.04	0.42199	D	0.056	0.46632	T	0.047	0.21998	B	0.025	0.20508	B	0.000057	0.53742	D	0.123229	0.967709	0.25836	N	2.93	0.84523	M	.	.	.	-2.99	0.62151	D	0.042	0.01498	-1.0012	0.29574	T	0.104	0.38119	T	9	0.035425574	0.01790	T	0.01839	0.40438	T	0.093	0.26882	.	.	0.0138822411134	0.00435	0.5387569928280177	0.53800	0.460764587813	0.45631	0.349716573954	0.17881	T	0.201504	0.55941	T	-0.463653	0.00932	T	-0.533868	0.18901	T	0.159589663147926	0.17841	T	0.737326	0.35372	T	0.22584768	0.45254	0.10703438	0.25760	0.22584768	0.45254	0.10703438	0.25760	-2.805	0.08230	T	.	.	0.082	0.08899	B	.	.	3.167343	0.42937	21.6	0.9919048796021096	0.54965	0.59580	0.30955	D	AEFDGBHCI	0.572476	0.57604	D	-0.600445514828128	0.18930	0.986851	-0.592500017498507	0.19687	1.057415	0.999999999963952	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	5.85	-1.3	0.08777	2.999000	0.49161	-0.107000	0.11873	-0.043000	0.17390	0.990000	0.36992	0.000000	0.08366	0.001000	0.02609	0.5813:0.1164:0.1905:0.1117	2.359	0.04039	597	0.68309	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1471.98	34	chr13	21177203	.	A	G	1471.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.221e+00;DP=821;ExcessHet=0.0000;FS=3.424;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=-8.370e-01;SOR=0.428	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr13	23330562	23330562	G	C	exonic	SACS	.	nonsynonymous SNV	SACS:NM_001278055:exon8:c.C12873G:p.F4291L	Spastic ataxia, Charlevoix-Saguenay type, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.988	D	0.755	P	0.000	D	0.997	D	1.39	L	-2.14	D	0.313	D	0.626	D	0.551	3.013	16.05	3.81	1.478	3.362	13.737	0.584	0.122549990632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.26965	T	0.0	0.92824	D	0.988	0.62325	D	0.755	0.56206	P	0.000000	0.84330	D	0.000000	0.996713	0.43371	D	2.4	0.69460	M	-2.29	0.87591	D	-1.26	0.35792	N	0.509	0.54234	0.313	0.87756	D	0.626	0.86850	D	10	0.4649511	0.59513	T	0.12255	0.80355	D	0.584	0.83305	0.376	0.38994	0.854021575142	0.85261	0.5727416198917414	0.57202	.	.	0.84032189846	0.88144	D	0.325589	0.69629	T	0.0961424	0.63873	D	-0.0996746	0.63423	T	0.921945631504059	0.58184	D	0.941006	0.77964	D	0.2207845	0.44642	0.1759384	0.40094	0.2207845	0.44642	0.1759384	0.40093	-3.154	0.11927	T	0.632975275961714	0.70262	0.957	0.87695	P	.;.	.;.	3.709631	0.52947	23.3	0.99706653019664193	0.81005	0.91203	0.53062	D	AEFDBCI	0.510993	0.53981	D	0.319041308045928	0.57125	3.878884	0.293798544965128	0.55176	3.680972	0.999999327388643	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.645665	0.59343	0	.	.	5.85	3.81	0.43020	3.449000	0.52713	2.994000	0.35893	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.912000	0.44740	0.1454:0.0:0.8546:0.0	13.737	0.62306	987	0.02648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	3368.98	34	chr13	23330562	.	G	C	3368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.743;DP=916;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.24;ReadPosRankSum=-8.100e-01;SOR=0.661	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1283	20	0	1	0
chr13	23333585	23333585	C	G	exonic	SACS	.	nonsynonymous SNV	SACS:NM_001278055:exon8:c.G9850C:p.V3284L	Spastic ataxia, Charlevoix-Saguenay type, Autosomal recessive	.	1	1483	32	0	6	38	0.0106738	.	.	684394	Charlevoix-Saguenay_spastic_ataxia|SACS-related_disorder|Spastic_paraplegia|not_provided	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550,Orphanet:98|.|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.14	T	0.656	P	0.222	B	0.000	D	0.994	D	0.895	L	-2.28	D	-0.012	T	0.515	D	0.808	3.705	18.82	5.1	1.525	4.041	15.244	0.555	0.0577134195937	0.0003	0.000798722	0.0015	0	0.0008	0	0	0.0006	0.0022	0.0081	0.0013195	204	154602	rs144179865	0.0008	0.0008	0.0005	0.0011	0.0089	0.0007	0.0007	0.0084	0.0082	2.988e-05	0.0006	0.0008	5.04e-05	0	0.0031	0.0002	0.0010	0.0089	0.0004	0.0004	0.0003	0.0005	0.0075	0.0003	0.0003	0.0055	0.0049	4.816e-05	0	0.0001	0.0009	0	0	0	0.0003	0	0.0075	0.029	0.45756	D	0.0	0.92824	D	0.656	0.40834	P	0.222	0.37884	B	0.000000	0.84330	D	0.000000	0.993666	0.42012	D	1.845	0.48678	L	-2.43	0.88689	D	-1.16	0.29727	N	0.491	0.52475	-0.0118	0.82011	T	0.515	0.81821	D	10	0.011504352	0.00251	T	0.057713	0.67063	D	0.555	0.81659	0.449	0.50957	0.84093893371	0.83941	0.6534326382826	0.65279	.	.	0.596720933914	0.52442	T	0.206031	0.56526	T	-0.0733947	0.40784	T	0.128053	0.78766	D	0.0942539796233177	0.11712	T	0.888311	0.61778	D	0.15958892	0.35842	0.13414635	0.32150	0.19954336	0.41897	0.1363398	0.32619	-2.876	0.08906	T	0.3575636095310141	0.45429	0.455	0.62440	A	.;.	.;.	2.292854	0.29327	18.09	0.99526170245541101	0.69591	0.97790	0.77152	D	AEFBI	0.632199	0.61289	D	0.112761731766394	0.47058	2.936847	0.223547471888333	0.51157	3.300695	0.999999999923135	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.94	5.1	0.68917	4.111000	0.57577	3.388000	0.38048	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.879000	0.42020	0.0:0.9327:0.0:0.0673	15.244	0.73188	987	0.02648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	2082.98	145	chr13	23333585	.	C	G	2082.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=2851;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=-5.390e-01;SOR=0.645	GT:AD:DP:GQ:PL	0/0:153,0:153:99:0,120,1800	20	0	1	0
chr13	23355239	23355239	G	A	exonic	SACS	.	nonsynonymous SNV	SACS:NM_001278055:exon6:c.C932T:p.T311I	Spastic ataxia, Charlevoix-Saguenay type, Autosomal recessive	YES	0	1509	13	0	0	13	0.00428901	.	.	266622	not_specified|not_provided|Hereditary_spastic_paraplegia|Spastic_paraplegia|SACS-related_disorder|Charlevoix-Saguenay_spastic_ataxia	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|.|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550,Orphanet:98	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	1.0	D	1.0	D	0.000	D	1.000	D	2.56	M	2.17	T	-0.853	T	0.174	T	0.993	3.394	17.45	5.72	2.857	9.798	20.241	0.546	0.100253231566	0.0024	0.000798722	0.0025	0.0005	0.0010	0	0.0005	0.0042	0.0011	0.0004	0.0023609	365	154602	rs61729954	0.0021	0.0021	0.0021	0.0022	0.0101	0.0021	0.0020	0.0080	0.0072	0.0004	0.0019	0.0222	5.038e-05	0.0004	0.0101	0.0019	0.0037	0.0007	0.0021	0.0021	0.0024	0.0019	0.0027	0.0020	0.0019	0.0023	0.0022	0.0003	0	0.0027	0.0199	0	0.0011	0.0102	0.0027	0.0047	0	0.0	0.91255	D	0.0	0.92824	D	0.988	0.62325	D	0.963	0.70837	D	0.000000	0.84330	D	0.000000	0.999998	0.81001	D	3.195	0.89043	M	2.17	0.19020	T	-3.44	0.67477	D	0.975	0.98563	-0.8532	0.51746	T	0.174	0.51722	T	10	0.009782344	0.00220	T	0.100253	0.77242	D	0.546	0.81135	.	.	0.619226046999	0.61614	0.9100570222732436	0.90979	.	.	0.656941413879	0.60972	T	0.644944	0.89155	D	-0.0457148	0.45097	T	0.157254	0.80638	D	0.0686978647633756	0.08468	T	0.927907	0.73422	D	0.596426	0.72498	0.5639624	0.74766	0.60294896	0.72850	0.54210186	0.73535	-9.713	0.72176	D	0.6874368651722385	0.76469	0.901	0.84294	P	.;.;.	.;.;.	4.070486	0.60473	24.2	0.99751892430377787	0.84305	0.98167	0.80181	D	AEFBCI	0.865809	0.78504	D	0.708044794657615	0.80161	7.233117	0.593632970121347	0.74479	6.144526	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.72	5.72	0.89380	9.902000	0.98627	11.863000	0.98373	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.320000	0.24970	0.0:0.0:1.0:0.0	20.241	0.98374	986	0.02773	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	2225.98	33	chr13	23355239	.	G	A	2225.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.490e+00;DP=1100;ExcessHet=0.0000;FS=0.579;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=-1.290e+00;SOR=0.719	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1157	20	0	1	0
chr13	23590242	23590242	T	A	exonic	TNFRSF19	.	nonsynonymous SNV	TNFRSF19:NM_001204458:exon2:c.T59A:p.L20Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.984	D	0.906	P	0.052	N	1.000	D	2.445	M	-1.31	T	0.323	D	0.629	D	0.842	2.962	15.87	5.32	2.151	3.647	11.96	0.536	0.109574842538	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.009	0.66756	D	0.984	0.60733	D	0.906	0.64351	P	0.051843	0.22945	N	0.426890	0.999962	0.52935	D	2.6	0.76081	M	-1.31	0.79666	T	-2.21	0.49684	N	0.872	0.86941	0.323	0.87925	D	0.629	0.86997	D	10	0.7755462	0.77429	D	0.109575	0.78660	D	0.536	0.80545	0.405	0.43738	0.89672547291	0.89570	0.7116146942776642	0.71103	0.487133243489	0.47548	0.3604426682	0.19450	T	0.315992	0.68756	T	0.283831	0.81640	D	0.169927	0.81404	D	0.920259296894073	0.57934	D	0.724828	0.33863	T	0.2923781	0.52213	0.34154496	0.59892	0.2923781	0.52213	0.34154496	0.59891	-6.403	0.49533	T	.	.	0.426	0.60999	A	.;.;.	.;.;.	3.624700	0.51315	23.1	0.99119341082169021	0.52958	0.64845	0.32540	D	AEFBI	0.216533	0.34176	N	0.216737744845825	0.52010	3.37804	0.045951736300062	0.41875	2.523262	0.999999873465445	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.32	5.32	0.75377	3.813000	0.55340	7.839000	0.70444	0.609000	0.47794	0.266000	0.25007	0.994000	0.32194	0.061000	0.16044	0.0:0.0:0.0:1.0	11.96	0.52291	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	892.98	94	chr13	23590242	.	T	A	892.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.800e-02;DP=795;ExcessHet=0.0000;FS=1.726;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.50;ReadPosRankSum=2.23;SOR=0.518	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1136	20	0	1	0
chr13	23660461	23660461	A	G	exonic	TNFRSF19	.	nonsynonymous SNV	TNFRSF19:NM_001204459:exon5:c.A311G:p.Q104R	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.198	B	0.082	B	0.001	N	0.635	D	1.355	L	1.88	T	-1.018	T	0.054	T	0.134	2.264	13.53	4.14	0.960	5.686	11.398	0.030	0.00845749091632	.	0.000199681	3.321e-05	0	0	0	0	6.04e-05	0	0	3.23e-05	5	154602	rs115547743	4.106e-06	4.104e-06	2.724e-06	5.502e-06	0.0002	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.496e-06	0	0	1.313e-05	1.312e-05	0	2.686e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.037	0.43393	D	0.104	0.38305	T	0.117	0.29589	B	0.082	0.29098	B	0.001078	0.40389	N	0.297708	0.562995	0.32824	D	1.59	0.40313	L	1.88	0.23884	T	-1.52	0.53096	N	0.326	0.42541	-1.0180	0.24366	T	0.054	0.22770	T	10	0.21254066	0.37717	T	0.008457	0.22382	T	0.030	0.07022	.	.	0.165133752707	0.16062	0.7470538180014026	0.74651	0.108227509967	0.12199	0.38241070509	0.22598	T	0.299074	0.67161	T	-0.327932	0.06269	T	-0.552462	0.17091	T	0.213538408279419	0.21137	T	0.684832	0.29327	T	0.08130496	0.18674	0.112811536	0.27222	0.08130496	0.18673	0.112811536	0.27221	-3.33	0.14404	T	.	.	0.086	0.10594	B	.;.;.;.	.;.;.;.	1.886503	0.23959	16.22	0.98993239578810077	0.49983	0.98775	0.86692	D	AEFDBIJ	0.756352	0.69564	D	-0.178193249900644	0.34043	1.938459	-0.0789206574198096	0.36262	2.108134	0.99999999094427	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.622129	0.49086	0	.	.	5.33	4.14	0.47821	5.651000	0.67625	2.176000	0.31092	0.756000	0.94297	1.000000	0.71638	0.787000	0.26830	0.312000	0.24784	0.9286:0.0:0.0714:0.0	11.398	0.49092	970	0.06235	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1107.98	38	chr13	23660461	.	A	G	1107.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.451e+00;DP=853;ExcessHet=0.0000;FS=4.329;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=0.887;SOR=1.238	GT:AD:DP:GQ:PL	0/1:39,43:82:99:1122,0,1076	20	0	1	0
chr13	23809908	23809908	A	G	exonic	MIPEP	.	nonsynonymous SNV	MIPEP:NM_005932:exon15:c.T1670C:p.M557T,	Combined oxidative phosphorylation deficiency 31, Autosomal recessive	.	465	1047	10	0	0	10	0.00475285	.	.	622420	Lethal_left_ventricular_non-compaction-seizures-hypotonia-cataract-developmental_delay_syndrome|not_provided	MONDO:MONDO:0014976,MedGen:C4310661,OMIM:617228,Orphanet:478049|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.121	B	0.292	B	0.000	D	1.000	D	1.985	M	3.14	T	-1.134	T	0.030	T	0.901	2.188	13.27	6.05	2.320	7.314	14.116	0.421	0.0106449931067	0.0008	0.000199681	0.0010	9.628e-05	0.0006	0	0	0.0008	0.0033	0.0036	0.0009314	144	154602	rs139684349	0.0008	0.0008	0.0007	0.0009	0.0041	0.0007	0.0007	0.0037	0.0036	5.975e-05	0.0002	0	5.045e-05	5.625e-05	0.0019	0.0006	0.0007	0.0041	0.0004	0.0004	0.0004	0.0005	0.0041	0.0003	0.0003	0.0027	0.0023	7.218e-05	0	0.0002	0	0	0.0002	0	0.0005	0.0005	0.0041	0.002	0.72154	D	0.005	0.72224	D	0.121	0.26708	B	0.292	0.40739	B	0.000000	0.84330	D	0.000000	0.999879	0.50225	D	2.4	0.69460	M	3.14	0.07920	T	-3.91	0.73042	D	0.91	0.91162	-1.1337	0.01613	T	0.030	0.12848	T	10	0.037929982	0.02177	T	0.010645	0.27409	T	0.421	0.73005	.	.	0.51627217869	0.51271	0.8046808324524232	0.80422	0.143410302846	0.16189	0.561334729195	0.47455	T	0.21153	0.57232	T	-0.128537	0.31733	T	0.0411159	0.73001	D	0.0877914923201039	0.10953	T	0.863614	0.55989	D	0.76766264	0.81908	0.7324693	0.84190	0.76766264	0.81909	0.7324693	0.84191	-10.125	0.74657	D	0.4163511021214496	0.50581	0.404	0.59777	A	.	.	4.008421	0.59116	24.1	0.9851137449125229	0.42349	0.97203	0.73298	D	AEFGBI	0.820070	0.74094	D	0.285100144833084	0.55393	3.703365	0.406944287069491	0.61997	4.408003	0.99999999980958	0.74766	0.706298	0.61202	0	0.688494	0.66719	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	6.05	6.05	0.98156	7.434000	0.79550	9.306000	0.79917	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.672000	0.33309	1.0:0.0:0.0:0.0	14.116	0.64686	895	0.25842	Peptidase M3A/M3B catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1126.98	33	chr13	23809908	.	A	G	1126.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.720e-01;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.94;ReadPosRankSum=-2.050e-01;SOR=0.653	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1147	20	0	1	0
chr13	23889281	23889281	C	T	exonic	MIPEP	.	nonsynonymous SNV	MIPEP:NM_005932:exon1:c.G40A:p.A14T,	Combined oxidative phosphorylation deficiency 31, Autosomal recessive	.	426	1088	7	1	0	9	0.00411899	.	.	1017740	Inborn_genetic_diseases|not_provided|Lethal_left_ventricular_non-compaction-seizures-hypotonia-cataract-developmental_delay_syndrome	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0014976,MedGen:C4310661,OMIM:617228,Orphanet:478049	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.39	T	0.012	B	0.015	B	0.072	N	1.000	N	0.69	N	2.91	T	-0.971	T	0.025	T	0.284	1.973	12.55	2.83	0.667	-0.816	10.862	0.037	0.00391740716445	0.0001	.	0.0034	0	0	0	.	0.0059	0	0	3.88e-05	6	154602	rs367730807	0.0008	0.0008	0.0008	0.0008	0.0103	0.0008	0.0008	0.0078	0.0070	0.0003	0.0010	0.0001	0	2.486e-05	0.0103	0.0009	0.0006	0.0011	0.0007	0.0007	0.0008	0.0007	0.0014	0.0006	0.0006	0.0012	0.0011	0.0002	0	0.0004	0	0	9.413e-05	0.0102	0.0014	0.0005	0.0002	0.113	0.28772	T	0.256	0.23298	T	0.012	0.16265	B	0.015	0.17295	B	0.072432	0.02265	N	2.141050	1	0.08975	N	0.895	0.22405	L	2.91	0.10008	T	-0.12	0.08809	N	0.269	0.30461	-0.9712	0.36946	T	0.025	0.10598	T	10	0.0056168735	0.00125	T	0.003917	0.09242	T	0.037	0.09474	.	.	0.0666544352282	0.05500	0.30943449715191595	0.30856	0.0868075944168	0.09792	0.661522388458	0.61628	T	0.028438	0.20599	T	-0.556128	0.00268	T	-0.596244	0.13130	T	0.0675089817170043	0.08298	T	0.678032	0.28700	T	0.036876928	0.04622	0.078144796	0.17476	0.036876928	0.04622	0.078144796	0.17475	-6.226	0.48133	T	.	.	0.210	0.43788	B	.	.	0.787682	0.11578	8.172	0.99100370590243236	0.52446	0.05180	0.10999	N	ALL	0.042747	0.06672	N	-0.953314997850535	0.09618	0.4560167	-0.955816166354092	0.10788	0.5456336	0.999999999967143	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.72	2.83	0.32150	-0.782000	0.04749	-0.472000	0.08972	0.469000	0.21855	0.000000	0.06391	0.000000	0.08366	0.297000	0.24428	0.0:0.7487:0.2513:0.0	10.862	0.46038	391	0.83213	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	737.98	34	chr13	23889281	.	C	T	737.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.000e-01;DP=754;ExcessHet=0.0000;FS=2.276;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=2.64;SOR=0.899	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1098	20	0	1	0
chr13	23891902	23891902	A	C	exonic	C1QTNF9B;PCOTH	.	nonsynonymous SNV	C1QTNF9B:NM_001007537:exon3:c.T389G:p.V130G	.	.	406	1101	15	0	0	15	0.0067659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.976	D	0.559	P	0.000	D	1.000	D	0.395	N	-1.83	D	-0.441	T	0.377	T	0.501	1.704	11.66	3.04	0.499	6.653	4.953	0.441	.	0.0011	.	0.0053	0.0010	0.0023	0	0.0055	0.0081	0.0139	0.0008	5.82e-05	9	154602	rs140408648	0.0038	0.0072	0.0040	0.0037	0.0080	0.0038	0.0037	0.0062	0.0055	0.0008	0.0015	0.0010	0	0.0019	0.0080	0.0046	0.0027	0.0004	0.0020	0.0045	0.0022	0.0018	0.0030	0.0018	0.0018	0.0027	0.0025	0.0009	0	0.0030	0	0	0.0013	0	0.0030	0.0024	0	0.173	0.22573	T	0.374	0.16280	T	0.976	0.58310	D	0.559	0.49531	P	0.000215	0.47681	D	0.140344	0.999999	0.81001	D	.	.	.	-1.83	0.84122	D	-2.26	0.50502	N	0.292	0.33030	-0.4410	0.70697	T	0.377	0.73445	T	10	0.01510039	0.00317	T	.	.	.	0.441	0.74447	.	.	0.866495554984	0.86519	0.40713664030771324	0.40629	1.31428007276	0.83300	0.441312164068	0.30756	T	0.008088	0.07445	T	0.0907628	0.63276	D	-0.107402	0.62818	T	0.0726806938428825	0.09022	T	0.551745	0.19033	T	0.1286578	0.30073	0.11022895	0.26577	0.1286578	0.30073	0.11022895	0.26576	-5.986	0.46163	T	.	.	0.137	0.29833	B	.;.	.;.	3.064739	0.41174	21.3	0.99018279218994965	0.50527	0.96645	0.70187	D	AEFDI	0.725150	0.67423	D	0.00559510834449038	0.42109	2.531043	-0.025503857379337	0.38567	2.274031	0.95648498402232	0.28250	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.26	3.04	0.34171	6.703000	0.74456	7.907000	0.73837	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.022000	0.11911	0.75:0.0:0.0871:0.1629	4.953	0.13375	340	0.86005	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	668.98	75	chr13	23891902	.	A	C	668.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.650e-01;DP=1705;ExcessHet=0.0000;FS=5.362;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=46.24;MQRankSum=-6.278e+00;QD=3.52;ReadPosRankSum=0.186;SOR=0.545	GT:AD:DP:GQ:PL	0/1:148,42:190:99:683,0,4078	20	0	1	0
chr13	24320996	24320996	G	C	exonic	C1QTNF9	.	nonsynonymous SNV	C1QTNF9:NM_001303138:exon4:c.G230C:p.G77A	.	.	445	1070	7	0	0	7	0.00326036	0.9962	0.964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.777	P	0.396	B	0.000	D	1.000	D	3.11	M	-6.27	D	0.377	D	0.903	D	0.751	2.743	15.13	4.1	2.250	8.441	13.947	0.846	.	0.0005	0.00658946	0.0078	0.0012	0.0651	0.0134	0	0.0002	0.0048	0.0001	0.0063324	979	154602	rs3751353	0.0025	0.0026	0.0028	0.0022	0.0577	0.0024	0.0024	0.0557	0.0549	0.0004	0.0577	0.0003	0.0287	9.486e-05	0.0002	0.0001	0.0014	0.0002	0.0028	0.0028	0.0026	0.0029	0.0198	0.0025	0.0025	0.0180	0.0172	0.0006	0	0.0198	0.0009	0.0143	0	0	0.0002	0.0035	0	0.006	0.61437	D	0.0	0.92824	D	0.777	0.44168	P	0.396	0.44364	B	0.000000	0.84330	D	0.000000	1	0.81001	D	3.215	0.89331	M	-6.27	0.99601	D	-4.88	0.81350	D	0.625	0.64393	0.377	0.88756	D	0.903	0.96789	D	9	0.0077015758	0.00175	T	.	.	.	0.846	0.95212	.	.	0.922458119316	0.92167	0.888045676207781	0.88773	.	.	0.575275659561	0.49421	T	0.732585	0.92528	D	0.0216165	0.54599	T	0.303836	0.88373	D	0.0857151762868732	0.10701	T	0.888611	0.61875	D	0.8907298	0.90570	0.78652304	0.87430	0.8907298	0.90571	0.78652304	0.87431	-10.505	0.76876	D	.	.	0.246	0.48050	B	.;.	.;.	6.804468	0.95758	35	0.99345736662123851	0.60371	0.99502	0.96805	D	AEFDI	0.926513	0.90773	D	0.590895057074402	0.72606	5.832239	0.558737376037225	0.72008	5.742537	0.999998576473596	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.1	4.1	0.47196	8.699000	0.91047	11.583000	0.93355	0.491000	0.22372	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:1.0:0.0	13.947	0.63601	851	0.35303	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1712.98	34	chr13	24320996	.	G	C	1712.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.12;DP=779;ExcessHet=0.0000;FS=13.637;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=48.21;MQRankSum=0.769;QD=18.22;ReadPosRankSum=-2.916e+00;SOR=1.626	GT:AD:DP:GQ:PL	0/1:31,63:94:99:1727,0,531	20	0	1	0
chr13	24431410	24431410	T	C	exonic	PARP4	.	nonsynonymous SNV	PARP4:NM_006437:exon32:c.A4813G:p.S1605G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.462	P	0.067	B	0.104	U	1.000	N	1.525	L	-2.35	D	-0.602	T	0.435	T	0.104	-0.647	1.149	0.804	-0.008	-0.358	3.350	0.088	0.0079619077498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.21968	T	0.269	0.22426	T	0.462	0.36386	P	0.067	0.27542	B	0.103570	0.19741	U	0.362328	1	0.08975	N	1.95	0.52479	M	-2.35	0.88066	D	-1.45	0.35597	N	0.165	0.17416	-0.6019	0.64739	T	0.435	0.77568	T	10	0.15687987	0.29535	T	0.007962	0.21110	T	0.088	0.25558	0.261	0.20473	0.888457289449	0.88735	0.0703595201213129	0.06972	0.136357026791	0.15383	0.42487603426	0.28508	T	0.06932	0.33681	T	-0.0994664	0.36512	T	-0.380653	0.35647	T	0.110039598621544	0.13428	T	0.654235	0.26451	T	0.078401215	0.17851	0.05079622	0.08046	0.078401215	0.17851	0.05079622	0.08045	-4.94	0.36182	T	.	.	0.09	0.12607	B	.	.	0.342466	0.07159	3.744	0.92475501397732707	0.21905	0.01136	0.04125	N	AEFBI	0.028860	0.02618	N	-0.821415513947533	0.12764	0.6242623	-0.932044124335994	0.11340	0.5771193	1.00582055930697E-4	0.04910	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	3.48	0.804	0.17840	-0.427000	0.07068	-0.115000	0.11785	0.476000	0.22017	0.000000	0.06391	0.000000	0.08366	0.034000	0.13613	0.0:0.1356:0.239:0.6253	3.350	0.06730	882	0.29131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	617.98	34	chr13	24431410	.	T	C	617.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.604;DP=699;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.43;ReadPosRankSum=-5.650e-01;SOR=0.763	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1078	20	0	1	0
chr13	24434978	24434978	G	A	exonic	PARP4	.	nonsynonymous SNV	PARP4:NM_006437:exon31:c.C4163T:p.P1388L,	.	.	422	1094	6	0	0	6	0.00273473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.0	B	0.0	B	0.329	U	1.000	N	0.205	N	4.63	T	-0.953	T	0.003	T	0.1	-1.267	0.046	-4.42	-1.848	-1.719	4.790	0.005	0.000723599973031	.	.	6.591e-05	0	0	0	0	2.998e-05	0	0.0004	5.17e-05	8	154602	rs774447084	2.942e-05	2.941e-05	1.089e-05	4.814e-05	0.0007	2.217e-05	1.97e-05	0.0002	0.0002	0	0	0	0	0	0.0007	8.094e-06	4.969e-05	0.0003	6.572e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.835	0.02847	T	0.2	0.27591	T	0.0	0.02946	B	0.0	0.01387	B	0.328742	0.14150	U	0.521506	1	0.08975	N	0.345	0.11182	N	4.63	0.01817	T	-0.41	0.14000	N	0.076	0.05037	-0.9534	0.40380	T	0.003	0.01059	T	10	0.03480056	0.01703	T	7.24E-4	0.00472	T	0.005	0.00259	0.308	0.27967	0.1749357433	0.17121	0.22046449809413016	0.21961	0.11738018142	0.13225	0.223511010408	0.01522	T	0.029971	0.21354	T	-0.588661	0.00171	T	-0.767191	0.02861	T	0.00925002617682026	0.00117	T	0.535646	0.17968	T	0.01402332	0.00078	0.02109189	0.00173	0.01402332	0.00078	0.02109189	0.00173	-2.824	0.08406	T	.	.	0.066	0.02200	B	.	.	-0.941999	0.00858	0.030	0.44364680561853598	0.03405	0.00124	0.00775	N	AEFBI	0.015782	0.00318	N	-1.87257002416119	0.00391	0.01679526	-1.96876523634494	0.00356	0.01571734	0.013581062023822	0.12482	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	2.25	-4.42	0.03329	-1.689000	0.02025	-2.457000	0.03731	-0.694000	0.04098	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3636:0.2928:0.3436:0.0	4.790	0.12611	863	0.32847	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	584.98	49	chr13	24434978	.	G	A	584.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.229e+00;DP=990;ExcessHet=0.0000;FS=2.207;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.45;ReadPosRankSum=-1.055e+00;SOR=0.895	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	20	0	1	0
chr13	24435203	24435203	G	C	exonic	PARP4	.	nonsynonymous SNV	PARP4:NM_006437:exon31:c.C3938G:p.S1313C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.001	B	0.002	B	0.057	U	1.000	N	0.695	N	4.55	T	-0.925	T	0.006	T	0.145	0.415	6.256	-2.1	-0.855	-0.102	1.839	0.008	0.00120556409172	.	0.000199681	0.0001	0	0	0.0017	0	0	0	0	0.0001035	16	154602	rs199938923	2.463e-05	2.463e-05	2.859e-05	2.063e-05	0.0009	1.803e-05	1.6e-05	0.0007	0.0006	0	0	0	0.0009	0	0	0	0	0	3.283e-05	3.281e-05	3.854e-05	2.685e-05	0.0008	1.26e-05	7.97e-06	0.0003	0.0002	0	0	6.536e-05	0	0.0008	0	0	0	0	0	0.015	0.52492	D	0.074	0.42976	T	0.001	0.07471	B	0.002	0.06944	B	0.056778	0.02090	U	2.743820	1	0.08975	N	0.805	0.20218	L	4.55	0.01948	T	-0.97	0.25770	N	0.093	0.07262	-0.9248	0.44886	T	0.006	0.01944	T	10	0.013735741	0.00290	T	0.001206	0.01558	T	0.008	0.00669	.	.	0.32471235697	0.32085	0.22205692543532926	0.22120	0.111870884816	0.12619	0.299637198448	0.10347	T	0.049157	0.28226	T	-0.601924	0.00142	T	-0.667478	0.07771	T	0.00785539519252016	0.00092	T	0.479552	0.14466	T	0.06151581	0.12748	0.03181002	0.01823	0.06151581	0.12747	0.03181002	0.01823	-5.786	0.44452	T	.	.	0.089	0.12084	B	.	.	1.156938	0.15458	11.86	0.8634204486079915	0.16472	0.01583	0.05155	N	AEFBI	0.052277	0.09315	N	-1.25610898679327	0.04220	0.1900212	-1.35697832862545	0.03724	0.1743118	1.949086229193E-4	0.05898	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	2.47	-2.1	0.06809	-0.201000	0.09466	-0.051000	0.12545	0.342000	0.19800	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1323:0.3708:0.3071:0.1898	1.839	0.02954	863	0.32847	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	746.98	52	chr13	24435203	.	G	C	746.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.25;DP=1013;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.79;ReadPosRankSum=-6.500e-01;SOR=0.597	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	20	0	1	0
chr13	24435475	24435475	C	T	splicing	PARP4	NM_006437:exon31:c.3667-1G>A	.	.	.	.	439	1073	8	2	0	12	0.0055607	0.9999	0.77	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	N	.	.	.	.	.	.	.	.	.	0.467	6.535	2.19	1.546	2.434	7.918	.	.	0.0002	0.000399361	0.0007	0	8.764e-05	0.0007	0	0.0004	0	0.0035	0.0005239	81	154602	rs201251739	0.0005	0.0005	0.0004	0.0006	0.0033	0.0004	0.0004	0.0030	0.0029	3.167e-05	2.672e-05	0.0002	0.0008	2.049e-05	0.0024	0.0003	0.0005	0.0033	0.0003	0.0003	0.0002	0.0004	0.0041	0.0002	0.0002	0.0027	0.0023	0	0	0.0001	0	0.0002	0	0.0034	0.0003	0.0005	0.0041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575275	0.31144	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.661043	0.00062	T	-0.726623	0.04482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.852816	0.79340	27.1	0.89243153055348434	0.18631	0.31660	0.24393	N	AEFBI	.	.	.	0.357936369023394	0.59158	4.093148	-0.0162358053320742	0.38980	2.304494	7.58805709476196E-4	0.07758	0.295142	0.05270	0	0.30413	0.05452	0	0.231597	0.04857	0	0.221052	0.04502	0	0.0971518	0.21753	2.19	2.19	0.26890	2.450000	0.44601	3.484000	0.38668	0.430000	0.20916	0.652000	0.28189	0.998000	0.33993	0.083000	0.17415	0.0:1.0:0.0:0.0	7.918	0.28995	864	0.32732	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	560.98	38	chr13	24435475	.	C	T	560.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.797e+00;DP=733;ExcessHet=0.0000;FS=8.209;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.16;ReadPosRankSum=-6.100e-02;SOR=0.105	GT:AD:DP:GQ:PL	0/0:26,0:26:69:0,69,1035	20	0	1	0
chr13	24688355	24688355	C	G	exonic	ATP12A	.	nonsynonymous SNV	ATP12A:NM_001185085:exon4:c.C265G:p.R89G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.568	P	0.577	P	0.097	N	1.000	D	3.27	M	-1.32	T	0.509	D	0.680	D	0.459	2.677	14.91	5.14	2.666	1.835	16.155	0.453	0.0375955262089	.	.	.	.	.	.	.	.	.	.	.	.	.	rs371217996	8.894e-06	8.893e-06	6.807e-06	1.1e-05	0.0005	4.96e-06	3.82e-06	0.0001	7.555e-05	0	0	0	0	0	0.0005	8.094e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.02	0.58613	D	0.473	0.38507	P	0.577	0.50090	P	0.097288	0.20034	N	0.484292	0.99996	0.52935	D	3.82	0.95555	H	-1.32	0.79761	T	-4.96	0.81985	D	0.613	0.62950	0.509	0.90671	D	0.680	0.88937	D	10	0.73601544	0.74625	D	0.037596	0.57714	D	0.453	0.75279	0.635	0.77142	0.907358655382	0.90643	0.6047894473554423	0.60409	0.436277347098	0.43726	0.188112184405	0.00193	T	0.798246	0.94827	D	0.0813889	0.62203	D	-0.120867	0.61732	T	0.977983355522156	0.72104	D	0.976052	0.91638	D	0.668795	0.76368	0.7272885	0.83889	0.668795	0.76369	0.7272885	0.83890	-11.502	0.82341	D	.	.	0.229	0.49461	B	.;.	.;.	3.598184	0.50813	23.0	0.99205883869792755	0.55442	0.85708	0.44870	D	AEFDBI	0.344611	0.44004	N	0.162422439060192	0.49403	3.140984	0.0730577996544043	0.43200	2.626653	0.999999955575365	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.467745	0.07146	0	0.542086	0.14980	0	.	.	5.14	5.14	0.70008	1.927000	0.39724	1.407000	0.26247	0.599000	0.40250	0.243000	0.24778	0.001000	0.17328	0.288000	0.24212	0.0:1.0:0.0:0.0	16.155	0.81462	975	0.05339	.;Cation-transporting P-type ATPase, N-terminal|Cation-transporting P-type ATPase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1267.98	33	chr13	24688355	.	C	G	1267.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.500e-02;DP=816;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.48;ReadPosRankSum=0.285;SOR=0.648	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1376	20	0	1	0
chr13	24698688	24698688	G	A	exonic	ATP12A	.	nonsynonymous SNV	ATP12A:NM_001185085:exon12:c.G1561A:p.G521S	.	.	395	1100	26	1	0	28	0.0125673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.002	B	0.001	B	0.000	N	0.996	N	0.435	N	-1.19	T	-0.864	T	0.249	T	0.078	1.676	11.56	5.02	2.780	6.751	13.284	0.299	.	0.0086	0.00539137	0.0076	0.0017	0.0041	0	0.0035	0.0085	0.01	0.0152	0.0076325	1180	154602	rs61740542	0.0093	0.0093	0.0091	0.0095	0.0179	0.0092	0.0091	0.0151	0.0141	0.0016	0.0061	0.0035	5.038e-05	0.0042	0.0179	0.0099	0.0096	0.0151	0.0065	0.0065	0.0068	0.0061	0.0127	0.0061	0.0060	0.0101	0.0092	0.0023	0	0.0105	0.0037	0	0.0025	0.0170	0.0088	0.0095	0.0127	0.059	0.37536	T	0.577	0.08594	T	0.002	0.09854	B	0.001	0.04355	B	0.000151	0.00484	N	3.128430	0.996481	0.23000	N	-0.395	0.03011	N	-1.19	0.78427	T	0.77	0.01949	N	0.187	0.20395	-0.8639	0.50981	T	0.249	0.61843	T	10	0.0066615343	0.00151	T	.	.	.	0.299	0.61955	.	.	0.87750021672	0.87630	0.5026235197756048	0.50184	0.218433882186	0.24383	0.435220569372	0.29924	T	0.171121	0.51912	T	-0.479358	0.00746	T	-0.449017	0.27806	T	0.0240620524642196	0.01153	T	0.833717	0.50261	T	0.07455334	0.16739	0.10153284	0.24308	0.07455334	0.16739	0.10153284	0.24308	-2.807	0.08248	T	.	.	0.074	0.04889	B	.;.	.;.	3.802122	0.54790	23.5	0.9807235541002699	0.38038	0.98237	0.80812	D	AEFDBI	0.687592	0.64888	D	-0.128686786996681	0.36145	2.085475	0.0429670881514521	0.41734	2.512213	0.998707492329551	0.37498	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.87	5.02	0.66742	6.716000	0.74519	9.975000	0.82886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.051000	0.15275	0.0785:0.0:0.9215:0.0	13.284	0.59666	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1051.98	37	chr13	24698688	.	G	A	1051.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=799;ExcessHet=0.0000;FS=3.844;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.19;ReadPosRankSum=-1.594e+00;SOR=1.101	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1363	20	0	1	0
chr13	24700745	24700745	A	G	splicing	ATP12A	NM_001676:exon13:c.1706-2A>G;NM_001185085:exon13:c.1724-2A>G	.	.	.	.	0	225	1	0	0	1	0.00221729	1.0000	0.932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.193	16.69	6.17	2.371	9.228	14.774	.	.	7.7e-05	0.000599042	0.0002	0	0.0003	0	0	4.527e-05	0	0.0011	0.0001811	28	154602	rs138823801	6.024e-05	6.088e-05	3.541e-05	8.534e-05	0.0008	4.965e-05	4.63e-05	0.0007	0.0006	0	0.0001	0	0	0	0.0005	7.199e-06	1.657e-05	0.0008	3.941e-05	3.938e-05	1.285e-05	6.717e-05	0.0010	1.715e-05	1.129e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.47e-05	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.00264522	0.51289	T	0.167076	0.81234	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	6.408138	0.95161	34	0.99479660333643938	0.66795	0.99345	0.94800	D	AEFDBI	.	.	.	1.15431775937777	0.99019	20.30047	1.00495593144531	0.98721	19.14825	0.999999999547673	0.74766	0.053691	0.00478	0	0.059962	0.00310	0	0.063197	0.01477	0	0.062806	0.01542	0	0.95749	0.64196	6.17	6.17	0.99707	9.215000	0.94270	7.108000	0.57557	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.626000	0.32052	1.0:0.0:0.0:0.0	14.774	0.69335	976	0.04745	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2916.08	36	chr13	24700745	.	A	G	2916.08	.	AC=2;AF=0.048;AN=42;DP=802;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.46;SOR=1.384	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1355	20	1	0	0
chr13	24706425	24706425	C	A	exonic	ATP12A	.	nonsynonymous SNV	ATP12A:NM_001185085:exon15:c.C2149A:p.Q717K	.	.	50	1444	28	0	0	28	0.00960219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	1.05	L	-3.84	D	0.820	D	0.836	D	0.314	4.976	29.1	5.79	2.727	7.726	17.517	0.698	.	0.0086	0.00539137	0.0075	0.0017	0.0041	0	0.0035	0.0085	0.0099	0.0153	0.0077101	1192	154602	rs61998252	0.0092	0.0092	0.0090	0.0094	0.0182	0.0091	0.0090	0.0154	0.0143	0.0016	0.0061	0.0035	5.038e-05	0.0042	0.0182	0.0097	0.0095	0.0150	0.0064	0.0064	0.0067	0.0061	0.0129	0.0061	0.0060	0.0103	0.0094	0.0023	0	0.0104	0.0037	0	0.0024	0.0170	0.0088	0.0095	0.0129	0.0	0.91255	D	0.17	0.30436	T	1.0	0.90584	D	1.0	0.97372	D	0.000002	0.62929	D	0.000000	1	0.81001	D	1.155	0.29575	L	-3.84	0.95826	D	-3.15	0.64132	D	0.777	0.77413	0.820	0.94657	D	0.836	0.94514	D	10	0.014782906	0.00311	T	.	.	.	0.698	0.89099	.	.	0.967406648624	0.96705	0.672687463921611	0.67206	0.941639018701	0.72234	0.680625915527	0.64358	T	0.874764	0.97325	D	-0.154589	0.27595	T	0.0174908	0.71468	D	0.0238445642850442	0.01125	T	0.972203	0.89922	D	0.75096107	0.80924	0.66239905	0.80214	0.75096107	0.80925	0.66239905	0.80215	-12.283	0.86366	D	.	.	0.179	0.42848	B	.;.	.;.	4.039287	0.59786	24.1	0.99597209159881028	0.73983	0.98369	0.82077	D	AEFBI	0.918231	0.88699	D	0.724002362018944	0.81204	7.468144	0.752245816033621	0.86324	8.852937	0.999999999707617	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.79	5.79	0.91751	7.813000	0.84661	4.912000	0.45962	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.548000	0.30127	0.0:1.0:0.0:0.0	17.517	0.87673	975	0.05339	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3148.11	39	chr13	24706425	.	C	A	3148.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.120e-01;DP=944;ExcessHet=0.1072;FS=0.440;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.45;ReadPosRankSum=0.228;SOR=0.739	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1249	19	0	2	0
chr13	24707062	24707062	T	C	exonic	ATP12A	.	nonsynonymous SNV	ATP12A:NM_001185085:exon16:c.T2227C:p.S743P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.255	M	-3.99	D	1.095	D	0.947	D	0.896	3.442	17.65	5.81	2.211	7.939	14.105	0.929	0.333804210996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.945	0.84822	M	-3.99	0.96308	D	-4.06	0.74582	D	0.908	0.91736	1.095	0.99435	D	0.947	0.98266	D	10	0.9367523	0.93004	D	0.333804	0.91825	D	0.929	0.98304	0.713	0.84872	0.994451876505	0.99439	0.9228278389614128	0.92259	0.937130021803	0.72070	0.717928290367	0.69745	T	0.960933	0.99497	D	0.52499	0.95031	D	0.516335	0.94958	D	0.997516512870789	0.91741	D	0.90231	0.65919	D	0.84792006	0.87182	0.8671544	0.92670	0.84792006	0.87184	0.8671544	0.92670	-12.049	0.85089	D	.	.	0.991	0.93890	P	.;.	.;.	4.591225	0.72620	25.9	0.99746260534983944	0.83927	0.97236	0.73496	D	AEFDBI	0.952582	0.96816	D	0.78847270037218	0.85380	8.55839	0.688980955570197	0.81542	7.551102	0.99999963291906	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.81	5.81	0.92413	7.917000	0.86906	4.244000	0.42722	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.127000	0.19450	0.0:0.0:0.0:1.0	14.105	0.64614	974	0.05496	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2652.98	43	chr13	24707062	.	T	C	2652.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.008e+00;DP=913;ExcessHet=0.0000;FS=4.065;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=-1.128e+00;SOR=0.991	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1534	20	0	1	0
chr13	24793169	24793169	A	G	exonic	RNF17	.	nonsynonymous SNV	RNF17:NM_001184993:exon10:c.A1063G:p.S355G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.0	B	0.0	B	0.588	N	1.000	N	0	N	3.49	T	-1.007	T	0.021	T	0.109	0.117	4.627	2.91	1.050	0.747	5.206	0.028	0.00475573486087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.15047	T	0.096	0.42614	T	0.0	0.02946	B	0.0	0.01387	B	0.587738	0.11080	N	0.820704	1	0.08975	N	0.55	0.14455	N	3.49	0.05071	T	-1.04	0.27259	N	0.06	0.03175	-1.0067	0.27943	T	0.021	0.08639	T	10	0.058121502	0.06784	T	0.004756	0.11847	T	0.028	0.06331	0.305	0.27485	0.043077524339	0.03247	0.109214135812641	0.10850	0.198902131425	0.22280	0.261753022671	0.05101	T	0.060749	0.31471	T	-0.348751	0.04806	T	-0.738733	0.03944	T	0.0759305506944656	0.09459	T	0.386661	0.09517	T	0.05385375	0.10251	0.03612034	0.02995	0.05385375	0.10250	0.03612034	0.02994	-5.013	0.36981	T	.	.	0.063	0.02257	B	.;.	.;.	0.378708	0.07505	4.152	0.96536557451111993	0.30172	0.05796	0.11732	N	AEFBI	0.057450	0.10701	N	-0.89981070051671	0.10846	0.5203884	-0.858590047835262	0.13081	0.6766429	4.1915574008284E-5	0.03989	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.27	2.91	0.32903	0.759000	0.26127	0.756000	0.21276	0.756000	0.94297	0.003000	0.16062	0.000000	0.08366	0.030000	0.13115	0.7612:0.0:0.2388:0.0	5.206	0.14614	927	0.17636	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1880.98	39	chr13	24793169	.	A	G	1880.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.443e+00;DP=925;ExcessHet=0.0000;FS=1.964;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=0.064;SOR=0.890	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr13	24861305	24861305	C	T	exonic	RNF17	.	nonsynonymous SNV	RNF17:NM_001184993:exon27:c.C3800T:p.P1267L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	1.0	D	1.0	D	0.001	N	1.000	D	0.55	N	2.77	T	-1.126	T	0.039	T	0.486	3.506	17.92	4.53	2.504	2.789	8.840	0.202	0.0110483282132	.	.	2.471e-05	0	0.0002	0	0	1.499e-05	0	0	1.94e-05	3	154602	rs750750208	6.931e-06	8.209e-06	8.281e-06	5.569e-06	7.042e-05	3.51e-06	2.56e-06	1.867e-05	1.017e-05	0	7.042e-05	0	2.609e-05	1.88e-05	0	2.724e-06	3.354e-05	0	1.972e-05	1.97e-05	2.571e-05	1.346e-05	4.411e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	0.07	0.35349	T	0.118	0.36233	T	1.0	0.90584	D	1.0	0.97372	D	0.001335	0.39379	N	0.174402	1	0.81001	D	1.935	0.51832	L	2.77	0.11407	T	-5.84	0.93440	D	0.621	0.63628	-1.1256	0.02005	T	0.039	0.16806	T	10	0.3377298	0.50890	T	0.011048	0.28270	T	0.202	0.48754	0.587	0.71497	0.082315109003	0.07666	0.7598839327639708	0.75936	0.828958284525	0.67545	0.571795403957	0.48932	T	0.245904	0.61528	T	-0.294772	0.09162	T	-0.424528	0.30557	T	0.960858643054962	0.65919	D	0.847115	0.55431	T	0.21385784	0.43775	0.24278912	0.49707	0.21385784	0.43775	0.24278912	0.49706	-8.564	0.64852	D	.	.	0.276	0.63262	B	.;.;.	.;.;.	4.494561	0.70240	25.5	0.99822917532150512	0.90590	0.83147	0.42289	D	AEFBI	0.218865	0.34382	N	0.419374163405285	0.62487	4.465508	0.465718879347723	0.65731	4.86118	0.921973325048354	0.26692	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.38	4.53	0.55009	2.651000	0.46338	5.838000	0.50223	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8333:0.0:0.1667	8.840	0.34294	895	0.25842	Tudor domain|Tudor domain|Tudor domain;Tudor domain|Tudor domain|Tudor domain;Tudor domain|Tudor domain|Tudor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	208.98	34	chr13	24861305	.	C	T	208.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.390e-01;DP=729;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.36;ReadPosRankSum=-1.460e+00;SOR=0.684	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1061	20	0	1	0
chr13	24868679	24868679	A	G	exonic	RNF17	.	nonsynonymous SNV	RNF17:NM_001184993:exon31:c.A4229G:p.Y1410C	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.004	B	0.023	B	0.413	N	0.995	N	1.445	L	3.46	T	-1.021	T	0.038	T	0.362	0.450	6.441	-6.08	-0.807	0.394	4.926	0.062	0.00413184904094	0.0002	0.000199681	4.942e-05	9.612e-05	8.637e-05	0	0	2.997e-05	0	0.0001	4.53e-05	7	154602	rs149803278	1.726e-05	1.984e-05	1.513e-05	1.94e-05	0.0003	1.185e-05	1.001e-05	0.0002	0.0001	0.0003	2.237e-05	0	2.526e-05	0	0	6.363e-06	8.339e-05	1.163e-05	5.256e-05	5.25e-05	5.142e-05	5.374e-05	0.0002	2.557e-05	1.83e-05	3.244e-05	1.911e-05	9.63e-05	0	6.535e-05	0	0	0	0	2.941e-05	0	0.0002	0.187	0.25055	T	0.132	0.35455	T	0.004	0.12183	B	0.023	0.19966	B	0.413332	0.12967	N	0.721459	1	0.08975	N	1.975	0.53506	M	3.33	0.23884	T	-3.36	0.68298	D	0.142	0.14196	-1.0214	0.23259	T	0.038	0.16376	T	10	0.061771303	0.07797	T	0.004132	0.09900	T	0.062	0.17934	.	.	0.0675242888579	0.06100	0.4903659908549865	0.48956	0.272769607499	0.29784	0.448964416981	0.31801	T	0.381599	0.74388	T	-0.344102	0.05109	T	-0.495387	0.22827	T	0.0461154034451073	0.04804	T	0.675632	0.28627	T	0.106961034	0.25292	0.14498673	0.34403	0.106961034	0.25291	0.14498673	0.34402	-4.238	0.27298	T	.	.	0.135	0.29450	B	.;.;.	.;.;.	1.246194	0.16423	12.53	0.6672399873706687	0.08143	0.28869	0.23670	N	AEFBI	0.081109	0.16408	N	-1.13995113959194	0.05947	0.2724913	-1.13722123548726	0.06999	0.3388829	0.970534603855141	0.29215	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.93	-6.08	0.01969	0.470000	0.21795	2.594000	0.33484	-0.641000	0.04447	0.843000	0.30332	0.931000	0.28545	0.691000	0.33868	0.3023:0.0875:0.0635:0.5466	4.926	0.13246	894	0.26265	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1241.98	50	chr13	24868679	.	A	G	1241.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.380e-01;DP=1142;ExcessHet=0.0000;FS=1.514;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.19;ReadPosRankSum=0.742;SOR=0.871	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,104,1800	20	0	1	0
chr13	25096284	25096286	AGA	-	exonic	PABPC3	.	nonframeshift deletion	PABPC3:NM_030979:exon1:c.86_88del:p.K30del,	.	.	432	1066	24	0	0	24	0.0111317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	.	0.0015	9.614e-05	0.0010	0.0002	0	0.0017	0.0022	0.0033	0.0003458	9	26028	rs773401999	0.0012	0.0012	0.0010	0.0013	0.0104	0.0011	0.0011	0.0083	0.0075	0.0002	0.0014	0.0170	2.519e-05	0	0.0104	0.0006	0.0027	0.0038	0.0010	0.0010	0.0010	0.0010	0.0046	0.0009	0.0008	0.0031	0.0026	0.0002	0	0.0012	0.0144	0	0	0.0068	0.0006	0.0052	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	6500.07	33	chr13	25096283	.	GAGA	G	6500.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.557;DP=988;ExcessHet=0.1072;FS=6.724;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=19.70;ReadPosRankSum=1.12;SOR=0.443	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1090	19	0	2	0
chr13	25097003	25097003	A	T	exonic	PABPC3	.	stopgain	PABPC3:NM_030979:exon1:c.A805T:p.K269X,	.	.	424	1083	15	0	0	15	0.00687758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	U	1.000	D	.	.	.	.	.	.	.	.	.	6.871	38	0.875	0.632	6.258	5.899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1277822604	0.0002	0.0050	0.0002	0.0002	0.0041	0.0002	0.0001	0.0035	0.0033	0	0.0016	7.768e-05	0.0041	0	0	4.503e-06	3.344e-05	0.0004	0.0041	0.0091	0.0035	0.0048	0.0657	0.0039	0.0038	0.0596	0.0572	0.0004	0	0.0089	0.0070	0.0657	0.0011	0.0034	0.0010	0.0058	0.0126	.	.	.	.	.	.	.	.	.	.	.	.	0.000139	0.49741	U	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.140945	0.94653	34	0.9935812595185205	0.60904	0.74223	0.36307	D	AEFDGBCI	0.049555	0.08574	N	0.46821757552781	0.65244	4.798183	0.20675132937927	0.50222	3.216508	0.268396305870421	0.18866	0.706298	0.61202	0	0.693144	0.66847	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	0.875	0.875	0.18266	6.513000	0.73652	9.425000	0.80773	0.393000	0.20503	1.000000	0.71638	1.000000	0.68203	0.770000	0.36519	1.0:0.0:0.0:0.0	5.899	0.18200	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	912.68	205	chr13	25097003	.	A	T	912.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.010;DP=3665;ExcessHet=0.3300;FS=0.927;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=59.08;MQRankSum=-1.511e+00;QD=1.34;ReadPosRankSum=-9.730e-01;SOR=0.867	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1090	18	0	3	0
chr13	25097017	25097020	GACG	-	exonic	PABPC3	.	frameshift deletion	PABPC3:NM_030979:exon1:c.819_822del:p.T274Nfs*9,	.	.	426	825	261	1	9	272	0.13748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0028	0.0002	0.0002	0.0040	0.0002	0.0002	0.0035	0.0033	0	0.0021	7.771e-05	0.0040	0	0.0002	4.518e-06	8.357e-05	0.0005	0.0038	0.0053	0.0031	0.0045	0.0558	0.0035	0.0034	0.0505	0.0484	0.0002	0	0.0081	0.0058	0.0558	0.0010	0	0.0010	0.0052	0.0111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	20220.35	244	chr13	25097016	.	AGACGGAACT	A,AGAACT	20220.35	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=1.45;DP=4626;ExcessHet=25.1139;FS=4.708;InbreedingCoeff=-0.6800;MLEAC=16,1;MLEAF=0.381,0.024;MQ=59.33;MQRankSum=-1.066e+01;QD=4.53;ReadPosRankSum=-8.050e-01;SOR=1.221	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0,0:33:99:.:.:0,99,1090,99,1090,1090	4	0	16	0
chr13	25097021	25097021	G	0	exonic	PABPC3	.	.	.	.	.	424	831	13	0	254	267	0.00776119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	597.61	244	chr13	25097021	.	G	T,*	597.61	.	AC=1,16;AF=0.024,0.381;AN=42;BaseQRankSum=1.31;DP=4600;ExcessHet=25.1139;FS=4.708;InbreedingCoeff=-0.6800;MLEAC=1,16;MLEAF=0.024,0.381;MQ=59.15;MQRankSum=-1.027e+01;QD=0.13;ReadPosRankSum=-6.340e-01;SOR=1.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0,0:33:99:.:.:0,99,1090,99,1090,1090	4	0	1	0
chr13	25097025	25097030	TTAAGC	0	exonic	PABPC3	.	.	.	.	.	431	824	13	0	254	267	0.00782661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	616.58	244	chr13	25097025	.	TTAAGC	T,*	616.58	.	AC=1,16;AF=0.024,0.381;AN=42;BaseQRankSum=1.65;DP=4638;ExcessHet=25.1139;FS=4.708;InbreedingCoeff=-0.6800;MLEAC=1,16;MLEAF=0.024,0.381;MQ=59.18;MQRankSum=-1.037e+01;QD=0.14;ReadPosRankSum=-4.370e-01;SOR=1.228	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0,0:33:99:.:.:0,99,1090,99,1090,1090	4	0	1	0
chr13	25097030	25097030	C	0	exonic	PABPC3	.	.	.	.	.	432	843	240	1	6	248	0.125519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	19605.59	231	chr13	25097030	.	C	T,*	19605.59	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=1.79;DP=4585;ExcessHet=25.1139;FS=4.555;InbreedingCoeff=-0.6800;MLEAC=16,1;MLEAF=0.381,0.024;MQ=59.30;MQRankSum=-1.040e+01;QD=4.43;ReadPosRankSum=-8.070e-01;SOR=1.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0,0:33:99:.:.:0,99,1090,99,1090,1090	4	0	16	0
chr13	25253869	25253869	G	T	exonic	MTMR6	.	nonsynonymous SNV	MTMR6:NM_001385232:exon10:c.C1115A:p.A372D	.	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.897	P	0.427	B	0.000	N	1.000	D	2.64	M	-2.82	D	-0.518	T	0.114	T	0.628	4.225	22.0	4.1	0.782	5.604	15.306	0.690	.	0.0006	0.0233626	0.0097	0.0005	0.0045	0.0837	0.0015	0.0016	0.0044	0.0164	0.0090555	1400	154602	rs79053319	0.0042	0.0042	0.0039	0.0046	0.0812	0.0041	0.0041	0.0789	0.0779	0.0001	0.0032	0.0057	0.0812	0.0017	0.0029	0.0007	0.0055	0.0170	0.0049	0.0050	0.0040	0.0060	0.0929	0.0046	0.0045	0.0861	0.0834	0.0003	0.0175	0.0019	0.0055	0.0929	0.0012	0	0.0009	0.0033	0.0228	0.063	0.36709	T	0.039	0.51112	D	0.834	0.46206	P	0.176	0.35644	B	0.000004	0.62929	N	0.139939	1	0.81001	D	3.57	0.93460	H	-2.82	0.91192	D	-4.34	0.76822	D	0.542	0.56919	-0.5180	0.67989	T	0.114	0.40513	T	10	0.011748701	0.00255	T	.	.	.	0.690	0.88726	.	.	0.974489703242	0.97421	0.8685922447097401	0.86824	0.19274520419	0.21601	0.67719066143	0.63866	T	0.680092	0.90597	D	-0.153391	0.27781	T	0.079846	0.75568	D	0.0946518568234797	0.11758	T	0.882712	0.60367	D	0.8910354	0.90596	0.8159179	0.89278	0.8910354	0.90597	0.8159179	0.89278	-10.566	0.77225	D	.	.	0.424	0.60884	A	.	.	3.276774	0.44877	22.0	0.9976261574648998	0.85172	0.92333	0.55470	D	ALL	0.647969	0.62296	D	0.424481151106037	0.62770	4.498695	0.43719403578283	0.63899	4.633097	0.999999999634843	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.658983	0.55881	0	0.733575	0.97253	0	.	.	5.86	4.1	0.47196	5.718000	0.68103	3.830000	0.39991	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.7441:0.2559	15.306	0.73701	819	0.41190	Myotubularin-like phosphatase domain|Myotubularin-like phosphatase domain|Protein-tyrosine phosphatase, catalytic	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1411.98	34	chr13	25253869	.	G	T	1411.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.584e+00;DP=805;ExcessHet=0.0000;FS=0.693;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=0.087;SOR=0.593	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr13	26676631	26676631	T	C	exonic	WASF3	.	nonsynonymous SNV	WASF3:NM_006646:exon7:c.T623C:p.M208T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.469	P	0.135	B	0.000	D	1.000	D	2.19	M	0.86	T	-0.844	T	0.155	T	0.863	3.513	17.94	5.77	2.200	7.608	16.066	0.269	0.0231026116929	.	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs769209646	2.736e-06	2.736e-06	5.445e-06	0	1.799e-06	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	1.872e-05	0	1.799e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.084	0.41239	T	0.469	0.36524	P	0.135	0.33210	B	0.000000	0.84330	D	0.068628	1	0.81001	D	2.015	0.55033	M	0.86	0.46777	T	-3.75	0.71157	D	0.925	0.92901	-0.8440	0.52379	T	0.155	0.48687	T	10	0.594343	0.66556	D	0.023103	0.46041	T	0.269	0.58381	0.301	0.26843	0.117191471859	0.11215	0.5417486398968957	0.54099	0.646625140246	0.58073	0.857486248016	0.90739	D	0.393157	0.75264	T	0.222851	0.76045	D	0.0823333	0.75733	D	0.914670348167419	0.57140	D	0.956104	0.83363	D	0.77613574	0.82417	0.7918367	0.87759	0.77613574	0.82419	0.7918367	0.87760	-6.228	0.48149	T	.	.	0.971	0.89618	P	.	.	3.227704	0.44003	21.8	0.98941219764225419	0.48940	0.97725	0.76683	D	AEFBI	0.885906	0.81684	D	0.380803316447592	0.60382	4.226536	0.491168664623474	0.67403	5.079419	0.99999999996344	0.74766	0.722319	0.85440	0	0.627178	0.54094	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.77	5.77	0.91077	7.585000	0.81876	7.782000	0.68692	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.066	0.80674	928	0.17405	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	224.68	133	chr13	26676631	.	T	C	224.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.769e+00;DP=1407;ExcessHet=0.3300;FS=145.778;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.43;ReadPosRankSum=0.872;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1300	18	0	3	0
chr13	26676632	26676632	G	A	exonic	WASF3	.	nonsynonymous SNV	WASF3:NM_006646:exon7:c.G624A:p.M208I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.033	B	0.013	B	0.000	D	1.000	D	2.19	M	0.9	T	-0.980	T	0.141	T	0.618	4.265	22.3	5.77	2.726	9.363	19.963	0.173	0.0125987129375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.165	0.30926	T	0.033	0.20350	B	0.013	0.16460	B	0.000000	0.84330	D	0.068628	1	0.81001	D	2.015	0.55033	M	0.9	0.45248	T	-2.13	0.48354	N	0.792	0.78832	-0.9799	0.35025	T	0.141	0.46202	T	10	0.41556367	0.56517	T	0.012599	0.31316	T	0.173	0.43840	0.347	0.34274	0.110392049598	0.10638	0.35992055545302254	0.35906	0.486330154237	0.47495	0.796828091145	0.81480	T	0.115135	0.43348	T	0.00174214	0.51893	T	-0.235274	0.51259	T	0.947975754737854	0.62796	D	0.976402	0.91778	D	0.388695	0.59939	0.37161005	0.62387	0.388695	0.59939	0.37161005	0.62387	-6.006	0.46330	T	.	.	0.932	0.85159	P	.	.	3.692749	0.52622	23.3	0.99546312106398649	0.70836	0.98844	0.87601	D	AEFBI	0.878924	0.80451	D	0.275228442467471	0.54895	3.654259	0.447476730566644	0.64554	4.713331	0.999999999999978	0.74766	0.722319	0.85440	0	0.627178	0.54094	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.77	5.77	0.91077	9.488000	0.96922	11.667000	0.94056	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.963	0.97259	928	0.17405	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	60.98	40	chr13	26676632	.	G	A	60.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.181e+00;DP=1228;ExcessHet=0.0000;FS=119.974;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.31;ReadPosRankSum=0.349;SOR=8.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1300	20	0	1	0
chr13	26681265	26681265	C	G	exonic	WASF3	.	nonsynonymous SNV	WASF3:NM_001291965:exon8:c.C919G:p.P307A	.	.	414	1101	6	1	0	8	0.00361991	.	.	702645	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.156	B	0.056	B	0.004	N	1.000	D	1.155	L	0.34	T	-1.019	T	0.110	T	0.381	1.621	11.38	6.07	2.885	5.468	20.645	0.125	0.0296180166556	0.0043	0.00119808	0.0039	0.0009	0.0040	0	0.0024	0.0056	0.0034	0.0010	0.003758	581	154602	rs151322145	0.0057	0.0057	0.0058	0.0057	0.0069	0.0056	0.0056	0.0067	0.0067	0.0010	0.0029	0.0023	0	0.0020	0.0012	0.0069	0.0048	0.0013	0.0034	0.0034	0.0036	0.0032	0.0061	0.0031	0.0030	0.0057	0.0055	0.0010	0	0.0015	0.0014	0	0.0010	0.0034	0.0061	0.0038	0.0019	0.142	0.25457	T	0.278	0.26969	T	0.156	0.28196	B	0.056	0.26147	B	0.003773	0.34511	N	0.310059	0.99957	0.47641	D	0.945	0.23706	L	0.34	0.58176	T	-1.11	0.36980	N	0.544	0.57092	-1.0190	0.24041	T	0.110	0.39723	T	10	0.007344365	0.00167	T	0.029618	0.52093	D	0.125	0.34456	.	.	0.138757226776	0.13463	0.18370489741777404	0.18289	0.840410351682	0.68033	0.600477933884	0.52972	T	0.071715	0.34276	T	-0.383269	0.02971	T	-0.320009	0.42573	T	0.0257074613894093	0.01366	T	0.836716	0.51465	T	0.04235307	0.06407	0.064666845	0.12995	0.04235307	0.06407	0.064666845	0.12995	-5.81	0.44661	T	.	.	0.054	0.00658	B	.;.	.;.	1.448438	0.18688	13.87	0.90098016147171578	0.19381	0.99058	0.90610	D	AEFDBI	0.332620	0.43197	N	-0.112290169804088	0.36858	2.136181	0.0049155931279314	0.39942	2.376022	0.999999999999382	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.07	6.07	0.98675	5.543000	0.66933	3.894000	0.40311	0.599000	0.40250	0.989000	0.36753	0.998000	0.33993	0.045000	0.14751	0.0:1.0:0.0:0.0	20.645	0.99594	928	0.17405	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1475.11	33	chr13	26681265	.	C	G	1475.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.04;DP=774;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.41;ReadPosRankSum=-4.400e-02;SOR=0.654	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	19	0	2	0
chr13	26682861	26682861	C	T	exonic	WASF3	.	nonsynonymous SNV	WASF3:NM_001291965:exon9:c.C1229T:p.S410F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.998	D	0.991	D	0.000	D	1.000	D	0	N	0.29	T	-0.661	T	0.221	T	0.446	3.215	16.77	5.61	2.630	5.329	19.219	0.157	0.138822489009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.42487	D	0.058	0.46182	T	0.879	0.48338	P	0.526	0.48415	P	0.000491	0.43931	D	0.267954	0.999959	0.52396	D	1.265	0.31966	L	0.29	0.58897	T	-1.29	0.38734	N	0.583	0.60410	-0.6609	0.62236	T	0.221	0.58370	T	10	0.48717344	0.60777	T	0.138822	0.82131	D	0.157	0.40909	0.233	0.16155	0.128874641272	0.12493	0.24594197222090403	0.24508	0.884775936026	0.69930	0.719616174698	0.69991	T	0.104599	0.41430	T	-0.0136808	0.49750	T	-0.257428	0.49080	T	0.829827606678009	0.48517	D	0.770923	0.40135	T	0.11558683	0.27274	0.12924117	0.31079	0.11558683	0.27274	0.12924117	0.31078	-5.042	0.39665	T	.	.	0.136	0.29560	B	.;.	.;.	3.921280	0.57248	23.8	0.99708125997458008	0.81143	0.97821	0.77381	D	AEFDBI	0.507658	0.53787	D	0.167436796195141	0.49640	3.162181	0.192261991095381	0.49422	3.145583	0.999999998931887	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.61	5.61	0.85347	5.257000	0.65294	7.443000	0.58891	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.169000	0.20946	0.0:1.0:0.0:0.0	19.219	0.93776	928	0.17405	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	469.98	33	chr13	26682861	.	C	T	469.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.102e+00;DP=802;ExcessHet=0.0000;FS=0.939;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.53;ReadPosRankSum=-7.510e-01;SOR=0.892	GT:AD:DP:GQ:PL	0/1:47,25:72:99:484,0,1196	20	0	1	0
chr13	27567731	27567731	G	A	exonic	LNX2	.	nonsynonymous SNV	LNX2:NM_153371:exon4:c.C764T:p.T255I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.695	M	1.68	T	-0.647	T	0.215	T	0.742	4.332	22.8	5.62	2.650	9.476	19.652	0.542	0.109732186564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.715	0.79425	M	1.68	0.27184	T	-5.37	0.84882	D	0.887	0.88577	-0.6468	0.62853	T	0.215	0.57639	T	10	0.77334887	0.77259	D	0.109732	0.78683	D	0.542	0.80901	0.492	0.57890	0.691868247055	0.68922	0.7253653476099667	0.72480	0.275911508279	0.30067	0.854667246342	0.90317	D	0.168481	0.51550	T	0.117948	0.66165	D	-0.0683529	0.65744	T	0.998137950897217	0.93322	D	0.984002	0.94559	D	0.65862346	0.75826	0.58575594	0.75977	0.65862346	0.75827	0.58575594	0.75978	-12.701	0.88094	D	.	.	0.989	0.93326	P	.;.	.;.	5.190076	0.87047	29.1	0.99909993108014361	0.97949	0.99176	0.92349	D	AEFBI	0.875556	0.79904	D	0.856571637812008	0.89480	9.988767	0.790863805535736	0.89151	9.85857	0.99999999999868	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	9.602000	0.97623	11.818000	0.97148	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.708000	0.34389	0.0:0.0:1.0:0.0	19.652	0.95818	964	0.07719	PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1746.98	33	chr13	27567731	.	G	A	1746.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.269;DP=836;ExcessHet=0.0000;FS=1.297;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=0.444;SOR=0.570	GT:AD:DP:GQ:PL	0/1:74,73:147:99:1761,0,1729	20	0	1	0
chr13	27924565	27924565	C	A	exonic	PDX1	.	nonsynonymous SNV	PDX1:NM_000209:exon2:c.C716A:p.P239Q,	MODY, type IV;Pancreatic agenesis 1, Autosomal recessive	.	3	1509	10	0	0	10	0.00330251	.	.	135327	Maturity_onset_diabetes_mellitus_in_young|not_provided|Pancreatic_hypoplasia|Maturity-onset_diabetes_of_the_young_type_4|not_specified|Monogenic_diabetes	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MedGen:C3661900|Human_Phenotype_Ontology:HP:0002594,Human_Phenotype_Ontology:HP:0005221,MedGen:C0266267|MONDO:MONDO:0011667,MedGen:C1833382,OMIM:606392,Orphanet:552|MedGen:CN169374|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.11	T	0.024	B	0.018	B	0.032	N	0.992	N	0.345	N	-2.9	D	-0.628	T	0.317	T	0.081	2.044	12.79	2.78	2.287	1.203	4.480	0.221	.	0.0056	0.00638978	0.0105	0.0324	0.0051	0.0037	0.0112	0.0098	0.0132	0.0094	0.0032341	500	154602	rs199644078	0.0044	0.0043	0.0044	0.0045	0.0252	0.0043	0.0043	0.0237	0.0231	0.0252	0.0032	0.0032	0.0006	0.0078	0.0028	0.0038	0.0052	0.0060	0.0094	0.0094	0.0096	0.0092	0.0235	0.0090	0.0088	0.0223	0.0218	0.0235	0	0.0058	0.0040	0.0008	0.0042	0.0068	0.0036	0.0147	0.0052	0.015	0.52492	D	0.193	0.28210	T	0.024	0.19075	B	0.018	0.18489	B	0.031997	0.25092	N	0.392854	0.992276	0.23908	N	0.69	0.16971	N	-2.9	0.91643	D	0.14	0.05405	N	0.238	0.26837	-0.6285	0.63635	T	0.317	0.68682	T	10	0.0057828426	0.00129	T	.	.	.	0.221	0.51721	.	.	0.598325952365	0.59513	0.5786849918005884	0.57797	0.999121115232	0.74354	0.786996901035	0.79985	T	0.53164	0.83803	D	-0.430026	0.01482	T	-0.367481	0.37182	T	0.00941826383111213	0.00121	T	0.487551	0.14930	T	0.078998126	0.18022	0.109930314	0.26499	0.078998126	0.18022	0.109930314	0.26499	-5.574	0.42554	T	.	.	0.094	0.14614	B	.	.	2.455609	0.31623	18.80	0.97524452009215323	0.34421	0.49883	0.28535	N	AEFDBHCI	0.152712	0.27744	N	-0.450865867955829	0.23711	1.275199	-0.328608669544254	0.27179	1.506335	0.991196388752651	0.32405	0.59774	0.34471	0	0.59043	0.45803	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	4.68	2.78	0.31702	0.961000	0.28864	2.833000	0.35033	0.502000	0.22824	0.695000	0.28578	0.995000	0.32472	0.002000	0.04165	0.1657:0.5996:0.1422:0.0925	4.480	0.11175	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	2105.11	78	chr13	27924565	.	C	A	2105.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.65;DP=842;ExcessHet=0.1072;FS=1.444;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=-4.700e-02;SOR=0.872	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1174	19	0	2	0
chr13	28048407	28048407	T	A	exonic	FLT3	.	nonsynonymous SNV	FLT3:NM_004119:exon9:c.A1073T:p.D358V,	Leukemia, acute lymphoblastic, somatic;Leukemia, acute myeloid, reduced survival in, somatic;Leukemia, acute myeloid, somatic	.	3	1518	1	0	0	1	0.000329272	.	.	138191	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.29	T	0.451	B	0.328	B	0.006	N	1.000	D	0.695	N	-0.86	T	-0.718	T	0.140	T	0.629	3.007	16.03	5.45	2.079	2.524	14.087	0.331	.	7.7e-05	0.00499201	0.0018	0	0	0.0234	0	0.0002	0.0011	0.0002	0.0016494	255	154602	rs34172843	0.0006	0.0006	0.0006	0.0006	0.0168	0.0006	0.0006	0.0157	0.0153	0	0	0.0040	0.0168	0	0.0002	3.066e-05	0.0009	0.0003	0.0008	0.0008	0.0007	0.0010	0.0210	0.0007	0.0007	0.0178	0.0166	0	0	0	0.0040	0.0210	0	0	1.47e-05	0.0005	0.0002	0.066	0.36113	T	0.133	0.34359	T	0.451	0.36091	B	0.104	0.31021	B	0.005974	0.32369	N	0.265038	0.999987	0.54805	D	1.59	0.40313	L	-1.07	0.76948	T	-1.13	0.29114	N	0.343	0.38438	-0.7178	0.59570	T	0.140	0.45828	T	10	0.009637773	0.00217	T	.	.	.	0.331	0.65325	.	.	0.757773675851	0.75557	0.6663777962670747	0.66575	0.245332560828	0.27063	0.364703774452	0.20068	T	0.255444	0.62623	T	-0.266926	0.12101	T	-0.138612	0.60238	T	0.0361865102643875	0.03013	T	0.738226	0.35599	T	0.34142992	0.56393	0.300904	0.56124	0.34142992	0.56394	0.300904	0.56123	-1.748	0.02358	T	.	.	0.089	0.12371	B	.	.	2.804157	0.36894	20.4	0.98891031281290698	0.48001	0.79139	0.39160	D	AEFGBCI	0.516512	0.54301	D	-0.0141832604376227	0.41214	2.461182	0.141388742531779	0.46689	2.91074	0.999999996712345	0.74766	0.554377	0.28877	0	0.587068	0.34093	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.45	5.45	0.79688	2.517000	0.45189	4.076000	0.41702	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	14.087	0.64490	899	0.25060	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1409.98	36	chr13	28048407	.	T	A	1409.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.764;DP=856;ExcessHet=0.0000;FS=2.149;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=0.923;SOR=0.891	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1309	20	0	1	0
chr13	28322931	28322931	T	C	exonic	FLT1	.	nonsynonymous SNV	FLT1:NM_002019:exon21:c.A2812G:p.M938V,	.	.	430	1077	14	1	0	16	0.00737327	.	.	702653	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.59	T	0.0	B	0.002	B	0.949	N	1.000	N	0.625	N	-0.8	T	-0.978	T	0.140	T	0.048	-0.722	0.903	-9.27	-1.556	-3.196	8.255	0.071	.	0.0028	0.00359425	0.0032	0.0009	0.0010	0	0.0002	0.0032	0.0033	0.0093	0.0030465	471	154602	rs35549791	0.0026	0.0026	0.0023	0.0029	0.0087	0.0026	0.0025	0.0082	0.0080	0.0005	0.0016	0.0005	0	0.0002	0.0069	0.0025	0.0027	0.0087	0.0024	0.0024	0.0024	0.0024	0.0094	0.0022	0.0021	0.0072	0.0064	0.0007	0.0011	0.0043	0.0009	0.0002	0	0.0034	0.0030	0.0038	0.0094	0.554	0.06502	T	0.508	0.10893	T	0.0	0.02946	B	0.002	0.06944	B	0.948503	0.07640	N	1.021770	1	0.08975	N	0.615	0.15706	N	-0.8	0.73845	T	0.07	0.06138	N	0.111	0.09772	-0.9777	0.35526	T	0.140	0.45866	T	10	0.0031074882	0.00052	T	.	.	.	0.071	0.20720	.	.	0.228066490088	0.22430	0.3764998894323643	0.37563	0.286092782875	0.31015	0.251135587692	0.03888	T	0.331921	0.70194	T	-0.581191	0.00189	T	-0.601644	0.12674	T	0.00402470849751331	0.00043	T	0.278972	0.07508	T	0.01784996	0.00309	0.035179887	0.02721	0.01784996	0.00309	0.035179887	0.02721	-3.524	0.16769	T	.	.	0.053	0.00248	B	.;.	.;.	-1.978851	0.00106	0.002	0.32694068452336811	0.01908	0.01224	0.04337	N	AEFGBCI	0.063911	0.12380	N	-1.76704238412251	0.00631	0.02720725	-1.82360273110645	0.00686	0.03055535	0.99999999998648	0.74766	0.730579	0.87903	0	0.315538	0.05683	2	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.75	-9.27	0.00560	-2.987000	0.00723	-6.572000	0.01362	-1.475000	0.01066	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.089:0.5638:0.2136:0.1337	8.255	0.30908	922	0.19044	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	517.11	30	chr13	28322931	.	T	C	517.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-7.780e-01;DP=681;ExcessHet=0.1072;FS=2.090;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=7.28;ReadPosRankSum=-4.870e-01;SOR=0.419	GT:AD:DP:GQ:PL	0/1:22,15:37:99:283,0,600	19	0	2	0
chr13	28713528	28713528	C	T	exonic	SLC46A3	.	nonsynonymous SNV	SLC46A3:NM_001135919:exon3:c.G212A:p.R71H	.	.	464	1057	1	0	0	1	0.000472813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.948	P	0.372	B	0.003	N	0.984	N	-0.345	N	0.37	T	-1.066	T	0.073	T	0.255	2.459	14.18	4.74	1.067	4.198	13.212	0.177	0.0264341656487	.	0.000399361	8.435e-05	0	8.711e-05	0.0001	0	1.523e-05	0	0.0005	7.76e-05	12	154602	rs139675539	5.996e-05	5.951e-05	3.965e-05	8.06e-05	0.0007	4.919e-05	4.595e-05	0.0005	0.0004	0	2.276e-05	0	0.0007	1.877e-05	0.0002	1.901e-05	6.676e-05	0.0004	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	6.82e-05	2.855e-05	0	0	0	0	0.0004	0	0	0	0	0	0.12	0.27904	T	0.004	0.74150	D	0.948	0.53620	P	0.372	0.43610	B	0.002872	0.35804	N	0.220156	0.984201	0.24820	N	-0.75	0.01730	N	0.37	0.57729	T	1.43	0.00805	N	0.095	0.07673	-1.0655	0.10432	T	0.073	0.29610	T	10	0.048002362	0.04192	T	0.026434	0.49346	D	0.177	0.44549	.	.	0.249502417897	0.24576	0.23005965915092264	0.22920	0.21552537	0.24085	0.293411523104	0.09421	T	0.124986	0.45038	T	-0.344857	0.05059	T	-0.420761	0.30989	T	0.083377878402414	0.10414	T	0.653935	0.26417	T	0.028858654	0.02288	0.047489464	0.06851	0.028858654	0.02288	0.047489464	0.06851	-3.38	0.14788	T	.	.	0.070	0.04002	B	.;.	.;.	2.263846	0.28933	17.96	0.99645496949611068	0.76943	0.92082	0.54905	D	AEFBI	0.734875	0.68087	D	-0.217748533209563	0.32405	1.827198	-0.103561019253586	0.35246	2.037	0.999042076701588	0.38290	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.91	4.74	0.59717	4.365000	0.59259	6.848000	0.56731	-0.776000	0.03386	1.000000	0.71638	1.000000	0.68203	0.432000	0.27494	0.8613:0.1387:0.0:0.0	13.212	0.59253	690	0.58899	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	906.98	40	chr13	28713528	.	C	T	906.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.13;DP=827;ExcessHet=0.0000;FS=3.801;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.89;ReadPosRankSum=0.181;SOR=1.098	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr13	30653155	30653155	C	G	exonic	USPL1	.	nonsynonymous SNV	USPL1:NM_001321534:exon5:c.C259G:p.P87A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.176	B	0.037	B	0.074	N	1.000	N	1.87	L	4.04	T	-0.979	T	0.011	T	0.257	-1.980	0.007	1.96	0.625	0.786	3.739	0.053	0.00459952618942	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1385864857	2.774e-06	2.736e-06	4.126e-06	1.398e-06	3.636e-06	6.5e-07	4.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.636e-06	0	0	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.052	0.39097	T	0.727	0.05256	T	0.176	0.28893	B	0.037	0.23121	B	0.073906	0.21316	N	0.534254	1	0.08975	N	2.625	0.76847	M	4.04	0.03121	T	-3.65	0.69950	D	0.265	0.30800	-0.9790	0.35231	T	0.011	0.04181	T	10	0.1405847	0.26722	T	0.005	0.11377	T	0.053	0.14996	.	.	0.165133752707	0.16062	0.2913576595719307	0.29048	0.0636878223407	0.07091	0.280958890915	0.07626	T	0.031386	0.22016	T	-0.205874	0.19964	T	-0.5335	0.18938	T	0.342694222927094	0.26730	T	0.838916	0.51225	T	0.08102177	0.18596	0.10605748	0.25506	0.08102177	0.18595	0.10605748	0.25505	-5.15	0.38429	T	.	.	0.096	0.15564	B	.;.	.;.	1.382153	0.17934	13.46	0.09141263554989372	0.00086	0.22163	0.21653	N	AEFDGBI	0.041706	0.06377	N	-0.479750388667663	0.22745	1.216676	-0.487343725973477	0.22501	1.222469	0.998316480388973	0.36741	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.63	1.96	0.25203	0.816000	0.26924	0.223000	0.16097	0.599000	0.40250	0.142000	0.23535	0.010000	0.20010	0.433000	0.27516	0.0:0.2725:0.3921:0.3353	3.739	0.08047	963	0.08280	Ubiquitin-specific peptidase-like, SUMO isopeptidase|Ubiquitin specific protease domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	828.98	33	chr13	30653155	.	C	G	828.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.40;DP=748;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.29;ReadPosRankSum=1.18;SOR=0.807	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1278	20	0	1	0
chr13	30659316	30659316	A	G	exonic	USPL1	.	nonsynonymous SNV	USPL1:NM_001321534:exon6:c.A2252G:p.D751G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.993	D	0.000	D	0.981	D	1.995	M	1.99	T	-0.958	T	0.127	T	0.73	2.946	15.82	5.62	2.143	5.830	14.389	0.272	0.0221789472222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.059	0.45961	T	1.0	0.90584	D	0.993	0.81110	D	0.000067	0.52346	D	0.080190	0.981023	0.39730	D	2.015	0.55033	M	1.99	0.21666	T	-4.38	0.77143	D	0.401	0.44187	-0.9579	0.39571	T	0.127	0.43360	T	10	0.3097359	0.48458	T	0.022179	0.45042	T	0.272	0.58758	0.418	0.45873	0.259761712551	0.25597	0.4244878683107923	0.42365	0.349711268669	0.36819	0.389146417379	0.23550	T	0.088484	0.38167	T	0.0516234	0.58551	T	-0.163623	0.58024	T	0.987165093421936	0.77715	D	0.827217	0.49094	T	0.33073735	0.55531	0.3232673	0.58259	0.33073735	0.55531	0.3232673	0.58259	-5.065	0.41803	T	.	.	0.186	0.53891	B	.;.	.;.	3.906545	0.56943	23.8	0.99818938980701177	0.90238	0.92561	0.56001	D	AEFBCI	0.559293	0.56816	D	0.604061377321794	0.73430	5.965011	0.558150754788032	0.71965	5.736094	0.999999991769031	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.408882	0.06424	0	0.674467	0.66132	0	.	.	5.62	5.62	0.85714	5.844000	0.69149	11.086000	0.85840	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.776000	0.36750	1.0:0.0:0.0:0.0	14.389	0.66530	964	0.07719	Domain of unknown function DUF4650;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1833.98	44	chr13	30659316	.	A	G	1833.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.331;DP=956;ExcessHet=0.0000;FS=1.712;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.47;ReadPosRankSum=0.524;SOR=0.941	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr13	30713841	30713841	-	GT	exonic	ALOX5AP	.	frameshift insertion	ALOX5AP:NM_001204406:exon1:c.116_117insGT:p.A40Wfs*25,	.	.	585	586	0	0	351	351	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0171	0.0263	0.0167	0.01	.	0.0067	0.0147	0.0200	0.225603	5872	26028	rs369636483	0.0003	0.0037	0.0003	0.0003	0.0035	0.0003	0.0003	0.0030	0.0028	0.0035	0.0014	0.0004	0.0007	9.077e-05	0.0007	0.0001	0.0004	0.0012	7.233e-05	0.0001	7.041e-05	7.436e-05	0.0001	3.094e-05	2.103e-05	5.452e-05	3.56e-05	0.0001	0	0	0	0	0	0	3.702e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	8628.76	35	chr13	30713841	.	G	GGT,GGTGT	8628.76	.	AC=1,7;AF=0.024,0.167;AN=42;BaseQRankSum=0.564;DP=1049;ExcessHet=0.5418;FS=1.813;InbreedingCoeff=0.0735;MLEAC=1,7;MLEAF=0.024,0.167;MQ=60.00;MQRankSum=0.00;QD=18.68;ReadPosRankSum=0.256;SOR=0.848	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0:34:99:.:.:0,102,1213,102,1213,1213	14	0	0	0
chr13	30966310	30966310	C	A	exonic	TEX26	.	stopgain	TEX26:NM_001353390:exon3:c.C165A:p.Y55X	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	5.028	29.7	2.71	0.760	0.897	6.801	.	.	7.7e-05	.	3.296e-05	0	0	0	0	5.996e-05	0	0	3.88e-05	6	154602	rs111513492	3.421e-05	3.42e-05	2.859e-05	3.988e-05	0.0005	2.631e-05	2.375e-05	0.0003	0.0003	0.0005	4.472e-05	0	0	0	0.0002	1.709e-05	0.0002	0	3.941e-05	3.938e-05	5.141e-05	2.687e-05	9.629e-05	1.715e-05	1.129e-05	3.244e-05	1.911e-05	9.629e-05	0	0	0	0	0	0.0034	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000182	0.48115	D	0.088358	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.224	0.25130	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424028	0.91229	D	0.551606	0.95683	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive|Recessive	High|High	7.458149	0.96537	36	0.9969420207305657	0.80180	0.76850	0.37725	D	AEFDBI	0.113609	0.22409	N	0.571953890007097	0.71428	5.649462	0.408626367177995	0.62101	4.420043	0.985427513807253	0.30885	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.41	2.71	0.31092	0.435000	0.21228	0.164000	0.15440	0.599000	0.40250	1.000000	0.71638	0.964000	0.29435	0.998000	0.85391	0.0:0.7159:0.0:0.2841	6.801	0.22935	945	0.12563	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	734.98	46	chr13	30966310	.	C	A	734.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.100e-01;DP=814;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.42;ReadPosRankSum=-5.520e-01;SOR=0.647	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1345	20	0	1	0
chr13	31274581	31274581	G	A	exonic	B3GLCT	.	nonsynonymous SNV	B3GLCT:NM_194318:exon9:c.G733A:p.V245M,	Peters-plus syndrome, Autosomal recessive	.	0	1483	38	1	0	40	0.0133067	.	.	102523	Peters_plus_syndrome|not_provided|not_specified	MONDO:MONDO:0009856,MedGen:C0796012,OMIM:261540,Orphanet:709|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.13	T	0.069	B	0.009	B	0.452	N	1.000	N	1.7	L	-0.64	T	-0.905	T	0.170	T	0.108	-0.113	3.446	1.84	0.021	-0.058	4.173	0.061	.	0.0053	0.00439297	0.0070	0.0014	0.0029	0	0.0026	0.0091	0.0099	0.0099	0.0068369	1057	154602	rs34830061	0.0070	0.0070	0.0069	0.0071	0.0121	0.0069	0.0068	0.0099	0.0090	0.0012	0.0032	0.0153	7.558e-05	0.0036	0.0121	0.0073	0.0066	0.0092	0.0050	0.0050	0.0051	0.0050	0.0097	0.0047	0.0046	0.0075	0.0067	0.0013	0.0208	0.0027	0.0193	0	0.0028	0.0034	0.0072	0.0071	0.0097	0.136	0.26085	T	0.106	0.37872	T	0.069	0.23796	B	0.009	0.14300	B	0.451778	0.12498	N	0.768332	1	0.08975	N	0.46	0.12951	N	-0.64	0.72125	T	0.14	0.05405	N	0.179	0.19325	-0.9055	0.47389	T	0.170	0.51052	T	10	0.0038720667	0.00073	T	.	.	.	0.061	0.17616	.	.	0.498513350342	0.49487	0.4227196399436346	0.42188	0.222872868779	0.24819	0.271227419376	0.06302	T	0.037088	0.24346	T	-0.501488	0.00561	T	-0.48588	0.23824	T	0.000223777613944911	0.00001	T	0.647135	0.25820	T	0.021001458	0.00681	0.027739998	0.00950	0.021001458	0.00681	0.027739998	0.00950	-4.006	0.23893	T	0.11511323578910222	0.10263	0.071	0.04002	B	.	.	0.603724	0.09722	6.491	0.91156191702256784	0.20411	0.04882	0.10625	N	AEFDBIJ	0.039290	0.05685	N	-0.785131843644018	0.13696	0.6766145	-0.833203669276532	0.13691	0.7116637	0.999959240786618	0.48110	0.732398	0.92422	0	0.588015	0.36545	0	0.653264	0.51672	0	0.727631	0.95156	0	.	.	5.62	1.84	0.24348	-0.220000	0.09220	0.271000	0.16657	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.121000	0.19209	0.0753:0.1312:0.389:0.4045	4.173	0.09798	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.04762	2242.11	33	chr13	31274581	.	G	A	2242.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.375;DP=820;ExcessHet=0.1072;FS=7.817;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=-1.110e+00;SOR=0.645	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1367	19	0	2	0
chr13	32078842	32078842	G	A	exonic	FRY	.	nonsynonymous SNV	FRY:NM_023037:exon2:c.G79A:p.V27I,	.	.	.	.	.	.	.	.	.	.	.	753785	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.33	T	0.186	B	0.02	B	0.000	D	1.000	D	0.755	N	1.91	T	-1.109	T	0.050	T	0.36	2.727	15.08	5.83	2.770	9.112	20.134	0.161	0.00657653362465	0.0005	0.00119808	0.0005	0.0028	0	0.0001	0	0.0004	0.0011	0	0.0004528	70	154602	rs35417728	0.0002	0.0002	0.0002	0.0002	0.0031	0.0002	0.0002	0.0027	0.0025	0.0031	0.0001	0.0041	7.557e-05	3.745e-05	0	4.947e-05	0.0005	3.478e-05	0.0009	0.0009	0.0010	0.0009	0.0028	0.0008	0.0008	0.0024	0.0023	0.0028	0	0	0.0029	0.0002	0	0	0.0001	0.0019	0.0002	0.124	0.27426	T	0.585	0.31833	T	0.186	0.29254	B	0.02	0.19048	B	0.000008	0.62929	D	0.065554	0.999985	0.54805	D	1.645	0.42016	L	1.91	0.23283	T	-0.2	0.15379	N	0.387	0.69737	-1.1091	0.03148	T	0.050	0.21417	T	10	0.0094097555	0.00212	T	0.006577	0.17358	T	0.161	0.41658	.	.	0.102598925029	0.09809	0.2581974354863529	0.25733	0.37558572423	0.39016	0.63571614027	0.57956	T	0.007008	0.09641	T	-0.425422	0.01581	T	-0.386916	0.34914	T	0.0952453814932917	0.11825	T	0.935306	0.78426	D	0.0825516	0.19022	0.12248735	0.29545	0.0825516	0.19022	0.12248735	0.29544	-3.729	0.19747	T	.	.	0.094	0.20625	B	.;.;.;.;.	.;.;.;.;.	3.817588	0.55106	23.6	0.99591797977128949	0.73631	0.98747	0.86334	D	AEFBI	0.828188	0.74733	D	0.0720371036152825	0.45161	2.777376	0.252670209139187	0.52800	3.45255	0.999999999999583	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.836244	0.99985	0	.	.	5.83	5.83	0.93059	9.319000	0.95469	7.211000	0.57822	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.690000	0.33838	0.0:0.0:1.0:0.0	20.134	0.98010	952	0.10565	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1005.98	33	chr13	32078842	.	G	A	1005.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=756;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.48;ReadPosRankSum=-1.478e+00;SOR=0.657	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr13	32124627	32124627	G	A	exonic	FRY	.	nonsynonymous SNV	FRY:NM_023037:exon6:c.G581A:p.S194N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.0	B	0.007	B	0.000	D	1.000	D	0.205	N	1.95	T	-1.083	T	0.034	T	0.1	1.697	11.63	5.16	2.574	5.241	16.083	0.037	0.00379369366176	.	.	1.679e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs754634733	1.732e-05	1.916e-05	6.905e-06	2.78e-05	0.0002	1.189e-05	1.005e-05	0.0001	9.488e-05	6.041e-05	2.237e-05	0	0	0	0.0002	9.128e-07	6.696e-05	0.0002	6.579e-06	6.569e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.346	0.12469	T	0.421	0.14241	T	0.0	0.02946	B	0.007	0.12992	B	0.000093	0.51296	D	0.202328	0.884104	0.35811	D	0.2	0.09183	N	1.95	0.22474	T	-0.22	0.10480	N	0.236	0.31925	-1.0827	0.06833	T	0.034	0.14726	T	10	0.14150634	0.26886	T	0.003794	0.08837	T	0.037	0.09474	.	.	0.0675242888579	0.06100	0.16770788540174775	0.16690	0.402332215328	0.41189	0.635996103287	0.57996	T	0.003847	0.09137	T	-0.42715	0.01542	T	-0.614679	0.11608	T	0.248175442218781	0.22791	T	0.835916	0.57273	T	0.17885903	0.38927	0.1593355	0.37165	0.17885903	0.38927	0.1593355	0.37164	-4.348	0.28844	T	.	.	0.068	0.02765	B	.;.;.;.;.	.;.;.;.;.	3.028154	0.40554	21.2	0.96375897992871384	0.29600	0.98634	0.84950	D	AEFBI	0.692508	0.65215	D	-0.0833031139994207	0.38124	2.228149	0.141237586478661	0.46680	2.910059	0.99999997538492	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.16	5.16	0.70563	5.658000	0.67673	5.132000	0.47660	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1338:0.8662:0.0	16.083	0.80825	943	0.12886	Cell morphogenesis protein N-terminal;Cell morphogenesis protein N-terminal;Cell morphogenesis protein N-terminal;Cell morphogenesis protein N-terminal;Cell morphogenesis protein N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1159.98	34	chr13	32124627	.	G	A	1159.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.080e-01;DP=813;ExcessHet=0.0000;FS=6.515;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=0.714;SOR=0.306	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1193	20	0	1	0
chr13	32254323	32254323	A	G	exonic	FRY	.	nonsynonymous SNV	FRY:NM_023037:exon51:c.A7345G:p.T2449A,	.	.	0	1472	50	0	0	50	0.0167001	.	.	725466	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.78	T	0.001	B	0.003	B	0.001	N	1.000	D	1.15	L	1.89	T	-1.064	T	0.036	T	0.054	1.607	11.33	3.21	0.498	2.920	5.747	0.047	.	0.0031	0.00898562	0.0065	0.0005	0.0016	0.0041	0.0039	0.0044	0.0022	0.0245	0.0058214	900	154602	rs192351218	0.0039	0.0039	0.0033	0.0046	0.0213	0.0039	0.0038	0.0204	0.0201	0.0006	0.0023	0.0033	0.0038	0.0036	0.0147	0.0027	0.0048	0.0213	0.0037	0.0037	0.0034	0.0039	0.0236	0.0034	0.0033	0.0201	0.0188	0.0008	0	0.0043	0.0037	0.0029	0.0035	0.0272	0.0039	0.0038	0.0236	.	.	.	0.952	0.02632	T	0.001	0.07471	B	0.003	0.08700	B	0.001155	0.40056	N	0.296096	0.916143	0.36544	D	1.525	0.38595	L	.	.	.	.	.	.	0.104	0.08786	-1.0644	0.10689	T	0.036	0.15553	T	10	0.0036722124	0.00067	T	.	.	.	0.047	0.12962	.	.	0.043077524339	0.03247	0.26827228298660577	0.26740	0.390152499004	0.40238	0.468544095755	0.34480	T	0.021424	0.16683	T	-0.582555	0.00186	T	-0.592656	0.13437	T	0.00881356298500261	0.00109	T	0.772923	0.40417	T	0.043323237	0.06732	0.032588337	0.02018	0.043323237	0.06731	0.032588337	0.02018	-3.869	0.21839	T	.	.	0.072	0.04396	B	.;.;.;.;.	.;.;.;.;.	2.167731	0.27620	17.52	0.93253645255033513	0.22944	0.80571	0.40173	D	AEFGBHCI	0.237725	0.35996	N	-0.396740501119558	0.25585	1.38994	-0.222223952144809	0.30741	1.733514	0.999999917014364	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.654926	0.60358	0	.	.	5.72	3.21	0.35933	2.421000	0.44343	0.884000	0.22419	0.756000	0.94297	1.000000	0.71638	0.011000	0.20116	0.988000	0.63387	0.7049:0.0:0.1436:0.1515	5.747	0.17396	940	0.13648	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	828.98	33	chr13	32254323	.	A	G	828.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.071;DP=785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.20;ReadPosRankSum=0.722;SOR=0.676	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1418	20	0	1	0
chr13	32311907	32311907	C	A	exonic	ZAR1L	.	nonsynonymous SNV	ZAR1L:NM_001136571:exon3:c.G19T:p.V7F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.012	B	0.007	B	0.566	U	1.000	N	1.5	L	.	.	-1.014	T	0.088	T	0.356	1.398	10.61	0.237	0.137	0.121	4.108	0.054	0.0359457174516	.	.	.	.	.	.	.	.	.	.	.	.	.	rs906518845	3.577e-06	4.788e-06	5.646e-06	1.451e-06	0.0009	1.05e-06	7.6e-07	0.0003	0.0002	0	0	0	0	0	0.0009	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.25055	T	0.055	0.46862	T	0.012	0.16265	B	0.007	0.12992	B	0.565618	0.05449	U	100.696000	1	0.08975	N	2.14	0.59869	M	.	.	.	-5.0	0.82341	D	0.198	0.33469	-1.0140	0.25656	T	0.088	0.33913	T	9	0.07632667	0.11909	T	0.035946	0.56676	D	0.054	0.15330	0.373	0.38503	0.0138822411134	0.00435	0.5494898478969964	0.54874	.	.	0.737766861916	0.72644	T	0.006813	0.06237	T	-0.0961359	0.37062	T	-0.375869	0.36204	T	0.857713520526886	0.50844	D	0.631037	0.24617	T	0.059766404	0.12187	0.05780722	0.10572	0.059766404	0.12186	0.05780722	0.10572	-4.056	0.24639	T	.	.	0.142	0.32637	B	.;.	.;.	1.010447	0.13896	10.45	0.97154979867375091	0.32603	0.04452	0.10056	N	AEFBI	0.052246	0.09307	N	-0.7766179823803	0.13921	0.6893953	-0.805984223334146	0.14351	0.7493748	0.999582745481708	0.40607	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.45	0.237	0.14737	0.172000	0.16518	0.055000	0.14054	0.575000	0.29119	0.050000	0.21411	0.002000	0.18203	0.875000	0.41745	0.2317:0.2411:0.4373:0.0899	4.108	0.09516	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	553.98	36	chr13	32311907	.	C	A	553.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.080e-01;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.58;ReadPosRankSum=1.34;SOR=0.705	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr13	32319134	32319134	A	G	exonic	BRCA2	.	nonsynonymous SNV	BRCA2:NM_000059:exon3:c.A125G:p.Y42C,	Fanconi anemia, complementation group D1, Autosomal recessive;Wilms tumor, Autosomal dominant, Somatic mutation	YES	3	1513	6	0	0	6	0.00197889	.	.	46290	Fanconi_anemia_complementation_group_D1|not_provided|not_specified|Hereditary_breast_ovarian_cancer_syndrome|Breast_and/or_ovarian_cancer|Breast-ovarian_cancer,_familial,_susceptibility_to,_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast	MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:319462|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MedGen:CN221562|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555,Orphanet:145|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.11	T	0.09	B	0.028	B	0.001	D	0.794	D	1.15	L	5.01	T	-0.761	T	0.000	T	0.341	0.088	4.474	0.279	-0.089	0.777	5.119	0.089	0.0876667864048	0.0025	0.000798722	0.0017	0.0002	0.0007	0.0001	0.0018	0.0023	0.0022	0.0017	0.0016494	255	154602	rs4987046	0.0021	0.0021	0.0021	0.0021	0.0024	0.0021	0.0020	0.0022	0.0022	0.0001	0.0012	0.0020	5.04e-05	0.0025	0.0007	0.0023	0.0022	0.0024	0.0015	0.0015	0.0016	0.0014	0.0025	0.0014	0.0013	0.0022	0.0021	0.0005	0	0.0005	0.0029	0	0.0016	0	0.0025	0.0009	0.0010	0.113	0.28772	T	0.107	0.37730	T	.	.	.	.	.	.	0.000515	0.43753	D	0.102378	0.794441	0.34429	D	.	.	.	5.01	0.01308	T	-1.32	0.32991	N	0.307	0.34659	-0.7612	0.57340	T	0.000	0.00039	T	10	0.009805024	0.00220	T	0.087667	0.74982	D	0.089	0.25827	.	.	0.780001080236	0.77797	0.39563112003706724	0.39478	0.0225267285624	0.02270	0.338256061077	0.16177	T	.	.	.	-0.520209	0.00439	T	-0.525878	0.19700	T	0.00183064800998949	0.00019	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.01348	B	.;.	.;.	0.108942	0.05089	1.624	0.48808984944735467	0.04104	0.76149	0.37326	D	AEBI	0.153756	0.27867	N	-0.980824216039329	0.09013	0.4248764	-0.934800001231078	0.11276	0.5734814	0.999641375194332	0.41316	0.651	0.46895	0	0.601575	0.49859	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.69	0.279	0.14929	0.845000	0.27321	-0.059000	0.12448	-0.768000	0.03469	0.997000	0.40164	0.001000	0.17328	0.143000	0.20056	0.6463:0.0:0.126:0.2277	5.119	0.14184	850	0.35610	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0.02381	1292.98	33	chr13	32319134	.	A	G	1292.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=838;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=-2.100e-02;SOR=0.697	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1111	20	0	1	0
chr13	32338481	32338481	G	C	exonic	BRCA2	.	nonsynonymous SNV	BRCA2:NM_000059:exon11:c.G4126C:p.G1376R,	Fanconi anemia, complementation group D1, Autosomal recessive;Wilms tumor, Autosomal dominant, Somatic mutation	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.986	D	0.741	P	0.440	N	1.000	N	1.87	L	5.53	T	-0.869	T	0.010	T	0.658	2.492	14.29	5.75	2.711	2.969	18.115	0.144	0.0644826263119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.373e-06	3.42e-05	1.366e-06	1.381e-06	1.801e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.801e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.37966	T	0.118	0.36233	T	.	.	.	.	.	.	0.440315	0.12636	N	0.743599	0.99995	0.19072	N	.	.	.	5.53	0.00894	T	-4.25	0.76094	D	0.37	0.43029	-0.8687	0.50627	T	0.010	0.03582	T	10	0.2966704	0.47231	T	0.064483	0.69290	D	0.144	0.38394	0.182	0.09004	0.913535812815	0.91266	0.25729930238969034	0.25643	0.0490563418063	0.05365	0.241285592318	0.02907	T	.	.	.	-0.0534321	0.43926	T	-0.314528	0.43171	T	0.917296528816223	0.57507	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.38605	B	.;.	.;.	2.291920	0.29320	18.08	0.99600381122847492	0.74160	0.64343	0.32376	D	AEFDBIJ	0.233910	0.35676	N	0.249152421986363	0.53596	3.52787	0.177354938143792	0.48609	3.074516	0.999999999965797	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.75	5.75	0.90390	3.055000	0.49608	4.485000	0.43549	0.656000	0.54149	0.178000	0.24038	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	18.115	0.89476	748	0.52143	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.04167	149.63	86	chr13	32338481	.	G	C	149.63	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-2.791e+00;DP=1742;ExcessHet=0.0000;FS=195.941;InbreedingCoeff=-0.1671;MLEAC=2;MLEAF=0.083;MQ=60.00;MQRankSum=0.00;QD=1.13;ReadPosRankSum=3.30;SOR=7.824	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:85,0:85:0:.:.:0,0,2023	11	0	1	9
chr13	32338482	32338482	G	C	exonic	BRCA2	.	nonsynonymous SNV	BRCA2:NM_000059:exon11:c.G4127C:p.G1376A,	Fanconi anemia, complementation group D1, Autosomal recessive;Wilms tumor, Autosomal dominant, Somatic mutation	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.952	P	0.368	B	0.440	N	1.000	N	1.87	L	5.56	T	-0.966	T	0.003	T	0.55	1.592	11.28	-2.54	-0.396	0.309	6.770	0.177	0.0438134422846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.278e-05	0.0006	2.473e-05	2.082e-05	2.9e-05	1.625e-05	1.429e-05	2.099e-05	1.796e-05	0	0	0	0	0	0	2.9e-05	1.669e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.24857	T	0.773	0.04431	T	.	.	.	.	.	.	0.440315	0.12636	N	0.743599	1	0.08975	N	.	.	.	5.56	0.00864	T	-3.39	0.66896	D	0.271	0.38335	-0.9655	0.38112	T	0.003	0.00994	T	10	0.16124925	0.30251	T	0.043813	0.61176	D	0.177	0.44549	0.187	0.09646	0.848475197848	0.84702	0.1506746443554609	0.14989	0.0782521929742	0.08805	0.22298027575	0.01489	T	.	.	.	-0.136464	0.30456	T	-0.433797	0.29504	T	0.382245836690281	0.28269	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.33823	B	.;.	.;.	1.061239	0.14430	11.00	0.95707531796490708	0.27610	0.24489	0.22409	N	AEFDBIJ	0.098221	0.19796	N	-0.588099796812623	0.19305	1.009324	-0.714807599775176	0.16593	0.8784747	0.999355546631917	0.39259	0.615465	0.37627	0	0.588066	0.40923	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.75	-2.54	0.05941	0.337000	0.19582	0.799000	0.21641	0.656000	0.54149	0.043000	0.21118	0.973000	0.29867	0.993000	0.69303	0.4902:0.0:0.3938:0.1159	6.770	0.22773	748	0.52143	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	144.98	109	chr13	32338482	.	G	C	144.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.256e+00;DP=1956;ExcessHet=0.0000;FS=79.035;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.09;ReadPosRankSum=-2.030e-01;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:84,0:84:99:.:.:0,120,1800	20	0	1	0
chr13	32338613	32338613	G	T	exonic	BRCA2	.	nonsynonymous SNV	BRCA2:NM_000059:exon11:c.G4258T:p.D1420Y,	Fanconi anemia, complementation group D1, Autosomal recessive;Wilms tumor, Autosomal dominant, Somatic mutation	YES	3	1490	27	2	0	31	0.0102956	.	.	49988	Hereditary_cancer-predisposing_syndrome|not_provided|not_specified|Breast_and/or_ovarian_cancer|Hereditary_breast_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial,_susceptibility_to,_2|Malignant_tumor_of_breast	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MedGen:CN169374|MedGen:CN221562|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555,Orphanet:145|MONDO:MONDO:0007254,MedGen:C0006142	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0	D	0.03	B	0.011	B	0.594	N	1.000	N	2.08	M	5.71	T	-0.910	T	0.003	T	0.625	1.506	10.99	1.06	0.126	0.274	2.252	0.152	.	0.0040	0.00399361	0.0068	0.0010	0.0013	0.0001	0.0183	0.0080	0.0045	0.0081	0.00652	1008	154602	rs28897727	0.0065	0.0065	0.0063	0.0067	0.0082	0.0064	0.0063	0.0077	0.0075	0.0011	0.0021	0.0012	5.089e-05	0.0173	0.0053	0.0066	0.0049	0.0082	0.0060	0.0060	0.0052	0.0068	0.0078	0.0057	0.0055	0.0072	0.0070	0.0015	0	0.0022	0.0012	0.0004	0.0225	0.0034	0.0078	0.0052	0.0070	0.03	0.45393	D	0.007	0.69154	D	.	.	.	.	.	.	0.593777	0.11024	N	0.823186	1	0.08975	N	.	.	.	5.71	0.00734	T	-6.6	0.92042	D	0.348	0.42931	-0.9105	0.46793	T	0.003	0.00800	T	10	0.0073898137	0.00168	T	.	.	.	0.152	0.39956	.	.	0.806314087725	0.80449	0.2672400750984085	0.26637	0.0240461599335	0.02442	0.280369341373	0.07543	T	.	.	.	-0.435259	0.01379	T	-0.390034	0.34547	T	0.0118407043112633	0.00184	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.09143	B	.;.	.;.	1.376317	0.17874	13.42	0.98833556565814296	0.47002	0.49798	0.28516	N	AEFDBI	0.072261	0.14414	N	-0.566739773436893	0.19962	1.048817	-0.580804229601725	0.19994	1.075233	0.998752000881226	0.37602	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.95	1.06	0.19341	0.305000	0.19006	2.200000	0.31279	0.656000	0.54149	0.698000	0.28607	1.000000	0.68203	0.279000	0.23992	0.2596:0.1191:0.4981:0.1231	2.252	0.03798	748	0.52143	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	911.98	109	chr13	32338613	.	G	T	911.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.121e+00;DP=1957;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.12;ReadPosRankSum=0.619;SOR=0.681	GT:AD:DP:GQ:PL	0/0:84,0:84:99:0,120,1800	20	0	1	0
chr13	32340455	32340455	C	T	exonic	BRCA2	.	nonsynonymous SNV	BRCA2:NM_000059:exon11:c.C6100T:p.R2034C,	Fanconi anemia, complementation group D1, Autosomal recessive;Wilms tumor, Autosomal dominant, Somatic mutation	YES	.	.	.	.	.	.	.	.	.	49997	Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Breast_and/or_ovarian_cancer|Hereditary_breast_ovarian_cancer_syndrome|not_specified|Breast-ovarian_cancer,_familial,_susceptibility_to,_2|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MedGen:CN221562|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MedGen:CN169374|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555,Orphanet:145|MedGen:C3661900	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.16	T	0.876	P	0.118	B	0.959	N	1.000	N	0	N	5.73	T	-0.915	T	0.001	T	0.62	0.809	8.253	1.77	0.757	-0.259	3.261	0.181	0.181494877087	0.0040	0.00139776	0.0032	0.0020	0.0038	0	0.0002	0.0049	0.0011	0	0.0034928	540	154602	rs1799954	0.0046	0.0046	0.0048	0.0045	0.0056	0.0045	0.0045	0.0055	0.0054	0.0017	0.0041	0.0013	5.044e-05	0.0003	0.0016	0.0056	0.0043	4.638e-05	0.0034	0.0034	0.0038	0.0030	0.0053	0.0031	0.0030	0.0049	0.0047	0.0014	0.0132	0.0043	0.0012	0.0002	0	0.0034	0.0053	0.0038	0	0.016	0.51853	D	0.163	0.31125	T	.	.	.	.	.	.	0.958965	0.08237	N	0.981833	1	0.08975	N	.	.	.	5.73	0.00718	T	-2.92	0.61129	D	0.205	0.22742	-0.9150	0.46220	T	0.001	0.00348	T	10	0.006237477	0.00141	T	0.181495	0.85559	D	0.181	0.45247	.	.	0.83472859845	0.83315	0.21720949376217583	0.21636	0.0217662487464	0.02172	0.215782105923	0.01081	T	.	.	.	-0.471652	0.00830	T	-0.445707	0.28172	T	0.0217174328020198	0.00877	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.06942	B	.;.	.;.	1.622599	0.20726	14.88	0.99669379636117372	0.78458	0.12584	0.17358	N	AEFGBI	0.144224	0.26713	N	-0.659152104289088	0.17195	0.8826905	-0.713915510446324	0.16614	0.8797485	0.950777945610966	0.27916	0.660377	0.49826	0	0.633656	0.55848	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	5.72	1.77	0.23848	-0.243000	0.08933	0.066000	0.14196	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.214:0.5303:0.1049:0.1509	3.261	0.06444	748	0.52143	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0.02381	2506.98	110	chr13	32340455	.	C	T	2506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=2255;ExcessHet=0.0000;FS=3.061;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-9.220e-01;SOR=0.702	GT:AD:DP:GQ:PL	0/0:88,0:88:99:0,120,1800	20	0	1	0
chr13	32442597	32442597	G	A	exonic	N4BP2L2	.	nonsynonymous SNV	N4BP2L2:NM_001278432:exon7:c.C1895T:p.T632I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.02	B	0.019	B	0.832	N	1.000	N	1.01	L	.	.	-1.012	T	0.070	T	0.022	0.722	7.844	0.943	0.228	0.867	3.373	0.019	0.00443844781485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.18691	T	0.491	0.11760	T	0.007	0.14184	B	0.003	0.08700	B	0.831638	0.06945	N	1.078020	1	0.08975	N	.	.	.	.	.	.	-0.86	0.23372	N	0.094	0.08786	-1.0117	0.26385	T	0.070	0.28511	T	9	0.04801753	0.04197	T	0.004438	0.10875	T	0.019	0.03383	0.286	0.24440	0.258283824007	0.25425	0.018686205854986655	0.01822	0.0369210788179	0.03911	0.291594058275	0.09154	T	0.018313	0.14784	T	-0.336072	0.05665	T	-0.720521	0.04770	T	0.0327992998063564	0.02438	T	0.422958	0.11265	T	.	.	.	.	.	.	.	.	-2.853	0.08682	T	.	.	0.116	0.23219	B	.;.;.	.;.;.	0.897931	0.12718	9.238	0.69399156239135695	0.08959	0.01688	0.05383	N	AEFGBI	0.052434	0.09358	N	-0.910991806605928	0.10584	0.5064679	-0.92389193064361	0.11532	0.5880046	0.997030355211998	0.35217	0.653281	0.48532	0	0.659037	0.61890	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.31	0.943	0.18655	0.919000	0.28312	2.196000	0.31247	0.672000	0.70159	0.135000	0.23427	0.897000	0.27914	0.012000	0.09680	0.4357:0.2065:0.3578:0.0	3.373	0.06806	823	0.40596	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1966.98	34	chr13	32442597	.	G	A	1966.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.584;DP=990;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.30;ReadPosRankSum=1.40;SOR=0.685	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1096	20	0	1	0
chr13	32443611	32443611	G	A	exonic	N4BP2L2	.	nonsynonymous SNV	N4BP2L2:NM_001278432:exon7:c.C881T:p.T294I	.	.	433	1078	11	0	0	11	0.00507614	.	.	2342458	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.002	B	0.003	B	0.036	N	1.000	N	-0.255	N	.	.	-1.001	T	0.030	T	0.011	-0.792	0.697	-8.19	-2.065	-0.574	6.511	0.035	0.00353907260379	0.0004	0.000399361	0.0005	0.0002	0.0012	0	0	0.0006	0	0.0001	0.0004075	63	154602	rs147501500	0.0003	0.0003	0.0003	0.0003	0.0085	0.0003	0.0003	0.0066	0.0059	0.0006	0.0007	0.0003	0	0	0.0085	0.0003	0.0010	8.156e-05	0.0003	0.0003	0.0004	0.0003	0.0005	0.0003	0.0002	0.0003	0.0003	0.0003	0	0.0005	0.0006	0	0	0.0068	0.0004	0.0005	0	0.453	0.08917	T	1.0	0.01155	T	0.002	0.09854	B	0.003	0.08700	B	0.035847	0.01809	N	2.099920	1	0.08975	N	.	.	.	.	.	.	-0.43	0.14390	N	0.04	0.01999	-1.0013	0.29545	T	0.030	0.13023	T	9	0.010247409	0.00229	T	0.003539	0.08062	T	0.035	0.08770	.	.	0.183819452728	0.17975	0.01878042727278461	0.01832	0.0367272736908	0.03888	0.284106731415	0.08071	T	0.007495	0.06902	T	-0.648825	0.00074	T	-0.804469	0.01793	T	0.00870696973812581	0.00107	T	0.365963	0.08520	T	.	.	.	.	.	.	.	.	-3.1	0.11296	T	.	.	0.086	0.13362	B	.;.;.	.;.;.	-0.522266	0.01796	0.139	0.029024223679168716	0.00000	0.03664	0.08924	N	AEFGBCI	0.037159	0.05067	N	-1.79744645951562	0.00551	0.0237378	-1.83496541352349	0.00654	0.02906554	0.999999977980224	0.74766	0.615465	0.37627	0	0.655437	0.61614	1	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.66	-8.19	0.00922	-0.811000	0.04607	-0.812000	0.07330	-0.688000	0.04154	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.2273:0.1216:0.5409:0.1102	6.511	0.21421	822	0.40702	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2285.98	34	chr13	32443611	.	G	A	2285.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=920;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.44;ReadPosRankSum=-6.730e-01;SOR=0.678	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr13	33111803	33111803	A	G	exonic	STARD13	.	nonsynonymous SNV	STARD13:NM_052851:exon10:c.T2228C:p.I743T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.375	M	2.14	T	-0.532	T	0.204	T	0.991	4.871	27.9	5.61	2.259	9.171	16.103	0.796	0.0761603534779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.6	0.93737	H	2.14	0.20122	T	-4.66	0.80595	D	0.985	0.99776	-0.5324	0.67450	T	0.204	0.56197	T	10	0.94739515	0.94068	D	0.07616	0.72464	D	0.796	0.93306	0.728	0.86198	0.857675792657	0.85630	0.7755266573763596	0.77502	0.705284076393	0.61380	0.727703273296	0.71171	T	0.822902	0.95689	D	0.290828	0.82224	D	0.179978	0.81995	D	0.99875009059906	0.95068	D	0.995275	0.98387	D	0.8065001	0.84324	0.7567165	0.85623	0.8065001	0.84325	0.7567165	0.85624	-12.12	0.85887	D	.	.	0.927	0.84763	P	.;.;.	.;.;.	4.940163	0.81522	27.6	0.99872068391695623	0.94989	0.96601	0.69959	D	AEFDGBCIJ	0.906598	0.85956	D	0.980277153487378	0.95107	13.31447	0.917520422649904	0.96292	14.52191	0.999999999999996	0.74766	0.645754	0.44609	0	0.519925	0.08708	0	0.618467	0.43123	0	0.723	0.93126	0	.	.	5.61	5.61	0.85347	9.210000	0.94212	11.072000	0.85602	0.740000	0.86194	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	16.103	0.81002	473	0.77910	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	88.73	43	chr13	33111803	.	A	G	88.73	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.614e+00;DP=1156;ExcessHet=0.3300;FS=92.526;InbreedingCoeff=-0.0780;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.47;ReadPosRankSum=0.072;SOR=8.967	GT:AD:DP:GQ:PL	0/0:60,0:60:88:0,88,1380	18	0	3	0
chr13	35159412	35159412	T	A	exonic	NBEA	.	nonsynonymous SNV	NBEA:NM_001379245:exon22:c.T3241A:p.L1081I	.	.	421	1099	2	0	0	2	0.000909091	.	.	2813830	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.19	T	0.436	B	0.16	B	0.001	D	0.955	D	0.345	N	0.32	T	-1.087	T	0.093	T	0.382	1.321	10.33	-3.91	-0.703	-1.061	15.142	0.075	0.00649608173706	.	0.000199681	0.0005	0.0001	0	0	0.0017	0.0002	0	0.0024	0.0004075	63	154602	rs201929445	0.0003	0.0003	0.0002	0.0004	0.0027	0.0003	0.0002	0.0024	0.0023	0	0	0	0	0.0015	0	7.196e-05	0.0002	0.0027	0.0002	0.0002	0.0001	0.0003	0.0021	0.0001	0.0001	0.0011	0.0009	0	0	0	0	0	0.0016	0	4.417e-05	0	0.0021	0.351	0.12632	T	0.381	0.15939	T	0.436	0.35766	B	0.16	0.34752	B	0.000622	0.42799	D	0.094115	0.999156	0.21565	N	1.04	0.26193	L	0.32	0.58468	T	-0.22	0.10480	N	0.45	0.48780	-1.0871	0.06030	T	0.093	0.35390	T	10	0.009279072	0.00210	T	0.006496	0.17100	T	0.075	0.21907	0.302	0.27003	0.334885890373	0.33091	0.11024781720152584	0.10953	0.299211418178	0.32289	0.658035874367	0.61128	T	0.071168	0.34142	T	-0.438983	0.01311	T	-0.408893	0.32353	T	0.03215006751934	0.02331	T	0.859414	0.55137	D	0.061220735	0.12653	0.055043012	0.09583	0.059189282	0.11998	0.05965949	0.11234	-4.161	0.26185	T	0.09590242510715533	0.06578	0.073	0.05800	B	.;.;.;.	.;.;.;.	1.206607	0.15994	12.24	0.93703875654078517	0.23617	0.09439	0.15194	N	AEFI	0.150900	0.27527	N	-0.918111697210196	0.10418	0.4977695	-0.977116807103779	0.10300	0.5178902	0.939918031114373	0.27409	0.615465	0.37627	0	0.588066	0.40923	0	0.608884	0.39905	0	0.655142	0.61905	0	.	.	5.09	-3.91	0.03892	-1.038000	0.03664	0.239000	0.16284	0.665000	0.62972	0.000000	0.06391	0.032000	0.21310	0.821000	0.38685	0.0:0.6704:0.0:0.3296	15.142	0.72294	925	0.17918	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2814.98	37	chr13	35159412	.	T	A	2814.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.332e+00;DP=889;ExcessHet=0.0000;FS=1.129;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.89;ReadPosRankSum=0.098;SOR=0.782	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1139	20	0	1	0
chr13	36438747	36438747	A	G	exonic	CCNA1	.	nonsynonymous SNV	CCNA1:NM_001111045:exon5:c.A770G:p.Y257C	.	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.18	H	2.16	T	-0.403	T	0.230	T	0.923	2.986	15.96	4.13	0.925	7.115	11.727	0.520	0.0714429863132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.355	0.91145	M	2.16	0.19166	T	-8.69	0.97617	D	0.872	0.86941	-0.4033	0.71923	T	0.230	0.59620	T	10	0.9608975	0.95498	D	0.071443	0.71270	D	0.520	0.79583	0.831	0.94042	0.81422016521	0.81247	0.675421110659819	0.67480	1.37292038186	0.84581	0.680161058903	0.64291	T	0.302442	0.67484	T	0.25221	0.78808	D	0.124506	0.78531	D	0.997956871986389	0.92847	D	0.98969	0.96662	D	0.81496716	0.84883	0.7185796	0.83386	0.81496716	0.84884	0.7185796	0.83387	-9.233	0.69185	D	.	.	0.857	0.80167	P	.;.;.;.	.;.;.;.	5.175494	0.86765	29.0	0.99535809565871658	0.70150	0.97243	0.73538	D	AEDBI	0.835457	0.75336	D	0.617847111495403	0.74303	6.109863	0.405668489240856	0.61915	4.398784	0.999999997562069	0.74766	0.706298	0.61202	0	0.475579	0.06741	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.33	4.13	0.47661	7.166000	0.77118	11.221000	0.89777	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.891000	0.42908	0.8675:0.0:0.0:0.1325	11.727	0.50984	905	0.23532	.;.;Cyclin, N-terminal|Cyclin, N-terminal|Cyclin-like|Cyclin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1153.98	36	chr13	36438747	.	A	G	1153.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.474e+00;DP=797;ExcessHet=0.0000;FS=0.741;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=0.581;SOR=0.734	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1275	20	0	1	0
chr13	36819434	36819434	C	G	exonic	RFXAP	.	nonsynonymous SNV	RFXAP:NM_000538:exon1:c.C77G:p.P26R,	Bare lymphocyte syndrome, type II, complementation group D, Autosomal recessive	.	1	1519	2	0	0	2	0.000657895	.	.	334349	MHC_class_II_deficiency	MONDO:MONDO:0008855,MedGen:C2931418,OMIM:PS209920,Orphanet:572	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.948	D	0.128	N	1.000	N	0	N	.	.	-1.055	T	0.092	T	0.337	2.051	12.81	4.01	1.046	1.515	9.028	0.198	.	.	.	0.0039	0	0	0	0	0.0154	0	0	9.7e-05	15	154602	rs763162669	0.0001	0.0002	0.0001	0.0002	0.0003	0.0001	0.0001	0.0001	8.059e-05	3.763e-05	0.0003	0.0032	0	2.361e-05	0.0002	8.02e-05	0.0004	0	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.253e-05	0.0001	8.295e-05	2.414e-05	0	0.0003	0.0029	0	0	0	8.831e-05	0.0010	0	0.007	0.59928	D	0.393	0.15355	T	1.0	0.90584	D	0.948	0.68536	D	0.128475	0.18730	N	0.379535	1	0.08975	N	0.895	0.22405	L	.	.	.	-1.42	0.34992	N	0.155	0.16028	-1.0553	0.12961	T	0.092	0.35146	T	9	0.0066409707	0.00150	T	.	.	.	0.198	0.48105	0.237	0.16760	0.212008924253	0.20833	0.22145126156859848	0.22060	1.04077518739	0.75788	0.693095326424	0.66150	T	0.048657	0.28082	T	-0.165553	0.25908	T	-0.176645	0.56832	T	0.108697224269717	0.13288	T	0.416558	0.10945	T	0.07153889	0.15846	0.1727111	0.39545	0.07153889	0.15845	0.1727111	0.39545	-6.555	0.50709	T	.	.	0.103	0.18539	B	.	.	1.945762	0.24712	16.50	0.99372140490833372	0.61498	0.30909	0.24203	N	ALL	0.035887	0.04692	N	-0.294255235906611	0.29369	1.628076	-0.419006694667712	0.24439	1.338293	0.999999999999841	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.86	4.01	0.45821	0.951000	0.28733	1.482000	0.26828	0.535000	0.24933	0.001000	0.13787	0.050000	0.21810	0.005000	0.06747	0.0:0.8966:0.0:0.1034	9.028	0.35405	756	0.51065	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	503.98	33	chr13	36819434	.	C	G	503.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=793;ExcessHet=0.0000;FS=1.023;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.87;ReadPosRankSum=0.215;SOR=0.974	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,106,1096	20	0	1	0
chr13	37569335	37569335	A	G	exonic	POSTN	.	nonsynonymous SNV	POSTN:NM_001286666:exon18:c.T2135C:p.F712S	.	.	443	1039	38	2	0	42	0.0198113	.	.	713921	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.37	T	0.867	P	0.544	P	0.095	N	1.000	N	1.1	L	-2.77	D	-0.353	T	0.525	D	0.093	2.630	14.75	4.41	0.943	4.010	10.104	0.228	.	0.0078	0.00319489	0.0070	0.0019	0.0065	0	0.0036	0.0102	0.0088	0.0024	0.0071603	1107	154602	rs75157793	0.0083	0.0083	0.0082	0.0084	0.0444	0.0082	0.0081	0.0400	0.0382	0.0025	0.0085	0.0286	0	0.0036	0.0444	0.0086	0.0102	0.0035	0.0071	0.0071	0.0071	0.0070	0.0105	0.0067	0.0066	0.0092	0.0090	0.0016	0	0.0105	0.0283	0	0.0028	0.0476	0.0098	0.0128	0.0033	0.404	0.65419	T	0.203	0.74150	T	0.593	0.47667	P	0.123	0.49014	B	0.095195	0.20135	N	0.497686	1	0.81001	D	1.1	0.28011	L	-2.8	0.91305	D	-1.16	0.29727	N	0.299	0.40164	-0.3532	0.73461	T	0.525	0.82331	D	10	0.00763011	0.00173	T	.	.	.	0.228	0.52768	.	.	0.919383460032	0.91856	0.6702049319968416	0.66958	0.271867686354	0.29697	0.340815365314	0.16560	T	0.206593	0.56598	T	-0.366748	0.03762	T	-0.28726	0.46055	T	0.0294644826363867	0.01907	T	0.748625	0.37818	T	0.1899733	0.40562	0.16072664	0.37421	0.1899733	0.40562	0.16072664	0.37421	-2.671	0.14193	T	.	.	0.150	0.35951	B	.;.;.;.	.;.;.;.	2.916861	0.38706	20.8	0.99462021203651474	0.65840	0.88563	0.48549	D	AEBI	0.614519	0.60181	D	0.00339914299677251	0.42010	2.523229	0.120058895224298	0.45577	2.818331	0.849759054739009	0.25022	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.59	4.41	0.52588	4.016000	0.56871	7.027000	0.57288	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.9239:0.0:0.0761:0.0	10.104	0.41697	503	0.75780	.;.;.;.	.	.	POSTN|POSTN|POSTN|POSTN|POSTN|POSTN|POSTN|POSTN|POSTN|POSTN	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Lung|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1877.11	37	chr13	37569335	.	A	G	1877.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.390e-01;DP=850;ExcessHet=0.1072;FS=0.568;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=0.684;SOR=0.674	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1226	19	0	2	0
chr13	38689807	38689807	C	A	exonic	FREM2	.	stopgain	FREM2:NM_207361:exon1:c.C2463A:p.Y821X,	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.001	D	1.000	A	.	.	.	.	.	.	.	.	.	8.996	41	2.77	0.811	0.169	11.610	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000775	0.41888	D	0.249082	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.759	0.75742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.099867	0.96141	35	0.99651990985997241	0.77380	0.70237	0.34508	D	AEFBCI	0.321798	0.42448	N	0.484280776219817	0.66171	4.915861	0.306440176747559	0.55919	3.754643	0.999877768147035	0.44625	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.8	2.77	0.31614	0.343000	0.19686	0.400000	0.17989	0.594000	0.32500	0.641000	0.28093	0.032000	0.21310	0.967000	0.53440	0.0:0.7767:0.0:0.2233	11.610	0.50311	938	0.14419	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	93.12	37	chr13	38689807	.	C	A	93.12	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.397e+00;DP=1521;ExcessHet=0.1072;FS=246.519;InbreedingCoeff=-0.0498;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.27;ReadPosRankSum=0.446;SOR=8.468	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,118,1795	19	0	2	0
chr13	38690244	38690244	A	G	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon1:c.A2900G:p.N967S,	Fraser syndrome, Autosomal recessive	.	1	1518	3	0	0	3	0.000987167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.98	T	0.0	B	0.001	B	0.179	N	0.998	N	1.665	L	2.14	T	-0.901	T	0.034	T	0.041	-3.192	0.001	-6.33	-1.329	-0.116	13.694	0.060	0.00511556811657	0.0002	.	0.0001	0.0002	8.64e-05	0.0002	0	0.0001	0.0011	6.057e-05	0.00011	17	154602	rs138726274	5.951e-05	5.951e-05	5.445e-05	6.463e-05	0.0007	4.882e-05	4.561e-05	0.0002	0.0001	0.0003	0.0001	0	7.557e-05	0	0.0007	4.586e-05	0.0001	4.637e-05	9.857e-05	9.85e-05	0.0001	8.07e-05	0.0003	6.007e-05	4.88e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	4.41e-05	0	0	0.964	0.02079	T	0.251	0.23638	T	.	.	.	.	.	.	0.178708	0.17163	N	0.651645	0.998356	0.22206	N	.	.	.	2.14	0.19450	T	-1.67	0.39887	N	0.07	0.04307	-0.9014	0.47846	T	0.034	0.14464	T	10	0.02860275	0.00991	T	0.005116	0.12970	T	0.060	0.17295	.	.	0.181679512989	0.17746	0.20568586458121058	0.20485	0.0924982757339	0.10440	0.19087639451	0.00241	T	.	.	.	-0.586296	0.00176	T	-0.800515	0.01890	T	0.00707792537699658	0.00081	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00341	B	.	.	-1.996272	0.00102	0.002	0.14152175355980343	0.00302	0.06520	0.12531	N	AEFBI	0.062141	0.11928	N	-1.58267856743541	0.01353	0.0589713	-1.64822240394994	0.01385	0.06257554	0.999867341958303	0.44398	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.564101	0.26826	0	.	.	5.59	-6.33	0.01814	-0.118000	0.10665	-3.898000	0.02465	-1.307000	0.01238	0.002000	0.15269	0.000000	0.08366	0.186000	0.21481	0.7276:0.0843:0.1881:0.0	13.694	0.62046	938	0.14419	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2337.98	37	chr13	38690244	.	A	G	2337.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.26;DP=1514;ExcessHet=0.0000;FS=4.162;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.31;ReadPosRankSum=-2.380e-01;SOR=0.879	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,118,1795	20	0	1	0
chr13	38691375	38691375	G	A	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon1:c.G4031A:p.R1344H,	Fraser syndrome, Autosomal recessive	YES	2	1496	24	0	0	24	0.00795756	.	.	334576	FREM2-related_disorder|Isolated_cryptophthalmia|Fraser_syndrome_2|Congenital_anomaly_of_kidney_and_urinary_tract|not_provided|not_specified|Congenital_diaphragmatic_hernia	.|MONDO:MONDO:0007410,MedGen:C1852453,OMIM:123570,Orphanet:91396|MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666|MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545|MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000776,Human_Phenotype_Ontology:HP:0006604,MONDO:MONDO:0005711,MeSH:D065630,MedGen:C0235833,OMIM:PS142340,Orphanet:2140	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.28	T	0.527	P	0.085	B	0.000	D	1.000	D	1.275	L	0.57	T	-0.999	T	0.122	T	0.741	3.091	16.32	5.81	2.746	7.985	17.017	0.218	0.00828160330622	0.0019	0.00199681	0.0037	0.0008	0.0010	0.0001	0.0056	0.0036	0.0055	0.0090	0.003454	534	154602	rs143044921	0.0030	0.0030	0.0028	0.0033	0.0093	0.0030	0.0029	0.0088	0.0086	0.0005	0.0009	0.0015	2.519e-05	0.0063	0.0049	0.0027	0.0032	0.0093	0.0025	0.0025	0.0023	0.0028	0.0050	0.0023	0.0022	0.0034	0.0033	0.0003	0	0.0014	0.0020	0.0002	0.0055	0.0068	0.0038	0.0009	0.0050	0.191	0.21066	T	0.194	0.28120	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.57	0.54347	T	-2.35	0.51968	N	0.649	0.66016	-0.9987	0.30283	T	0.122	0.42357	T	10	0.00933212	0.00211	T	0.008282	0.21928	T	0.218	0.51265	.	.	0.574670332726	0.57135	0.5975888075421643	0.59689	0.194995630506	0.21838	0.400006681681	0.25069	T	.	.	.	-0.223529	0.17514	T	-0.0864691	0.64427	T	0.0267143234646331	0.01504	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23360	B	.	.	4.336853	0.66495	25.0	0.99908027591708826	0.97801	0.98242	0.80858	D	AEFBI	0.877977	0.80295	D	0.325135943766178	0.57442	3.911485	0.481565071732744	0.66771	4.995424	0.999999999820025	0.74766	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.564101	0.26826	0	.	.	5.81	5.81	0.92413	8.113000	0.89423	9.943000	0.82671	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1269:0.8731:0.0	17.017	0.86294	938	0.14419	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2860.11	37	chr13	38691375	.	G	A	2860.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.21;DP=1330;ExcessHet=0.1072;FS=3.289;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.18;ReadPosRankSum=1.38;SOR=0.813	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,118,1795	19	0	2	0
chr13	38859428	38859428	G	C	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon14:c.G7357C:p.V2453L,	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.951	P	0.409	B	0.000	N	1.000	D	2.865	M	1.88	T	-0.981	T	0.091	T	0.248	3.297	17.08	4.14	0.938	4.903	8.428	0.156	0.0142809241756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.426e-06	0.0001	5.454e-06	1.377e-06	4.505e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.505e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.016	0.60972	D	.	.	.	.	.	.	0.000203	0.47681	N	0.139815	0.999998	0.58761	D	.	.	.	1.88	0.23884	T	-1.95	0.45222	N	0.416	0.45615	-0.9811	0.34748	T	0.091	0.34847	T	10	0.29562914	0.47131	T	0.014281	0.34290	T	0.156	0.40720	0.299	0.26522	0.426670027402	0.42282	0.510707213402808	0.50992	0.115962092506	0.13078	0.591294765472	0.51677	T	.	.	.	-0.139472	0.29976	T	-0.438119	0.29019	T	0.881288886070251	0.53134	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.57361	A	.	.	2.487454	0.32091	18.94	0.98227814918200052	0.39360	0.97595	0.75784	D	AEFBI	0.688535	0.64950	D	0.180157683667661	0.50246	3.21658	0.185006421886382	0.49024	3.110789	0.791277744604143	0.24019	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.86	4.14	0.47821	5.015000	0.63798	5.657000	0.49204	-0.816000	0.03012	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.063:0.1148:0.7031:0.1191	8.428	0.31901	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	1573.08	134	chr13	38859428	.	G	C	1573.08	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-4.318e+00;DP=3120;ExcessHet=17.4423;FS=268.600;InbreedingCoeff=-0.5351;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=0.70;ReadPosRankSum=0.855;SOR=13.744	GT:AD:DP:GQ:PL	0/1:94,49:143:99:124,0,1665	6	0	15	0
chr13	39039232	39039232	G	A	exonic	NHLRC3	.	nonsynonymous SNV	NHLRC3:NM_001012754:exon2:c.G181A:p.G61R	.	.	.	.	.	.	.	.	.	.	.	2238356	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.000	D	1.000	D	2.9	M	0.94	T	0.910	D	0.868	D	0.938	4.254	22.2	5.29	2.457	8.606	17.932	0.730	0.17438753893	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1007107832	7.526e-06	8.209e-06	6.807e-06	8.251e-06	8.994e-06	4.04e-06	2.95e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.994e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.72154	T	0.003	0.76473	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.999974	0.81001	D	2.865	0.83145	M	0.94	0.90735	T	-5.13	0.83224	D	0.915	0.91736	0.910	0.95813	D	0.868	0.95600	D	9	0.851086	0.84287	D	0.174388	0.85079	D	0.730	0.90545	0.502	0.59460	0.985302744461	0.98514	0.8556474447721614	0.85527	0.467012440745	0.46087	0.638010442257	0.58281	T	0.078679	0.35949	T	0.463147	0.93060	D	0.427502	0.92973	D	0.991421639919281	0.81718	D	0.925307	0.81505	D	0.51133674	0.67757	0.5066649	0.71487	0.51133674	0.67758	0.5066649	0.71488	-7.918	0.60510	D	.	.	0.802	0.83424	P	.;.	.;.	5.498171	0.91554	32	0.99933205921838952	0.99488	0.95026	0.63168	D	ALL	0.935213	0.92975	D	0.755008839762964	0.83230	7.963451	0.67901189906514	0.80789	7.377434	0.999999999999999	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.731467	0.93227	0	0.665054	0.64577	0	.	.	5.29	5.29	0.74430	8.759000	0.91344	11.845000	0.97913	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.161000	0.20682	0.0:0.0:1.0:0.0	17.932	0.88918	869	0.31655	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	837.98	68	chr13	39039232	.	G	A	837.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.338;DP=793;ExcessHet=0.0000;FS=0.899;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=-3.440e-01;SOR=0.582	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1230	20	0	1	0
chr13	39047804	39047804	G	A	exonic	NHLRC3	.	nonsynonymous SNV	NHLRC3:NM_001017370:exon6:c.G721A:p.V241I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.982	D	0.505	P	0.000	D	0.724	D	2.005	M	-2.63	D	0.599	D	0.689	D	0.299	3.406	17.50	5.46	2.721	4.030	12.013	0.359	0.0403635154303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.42487	T	0.197	0.44702	T	0.709	0.42056	P	0.254	0.39164	B	0.000014	0.62929	D	0.112351	0.723525	0.33642	D	2.34	0.67151	M	-2.63	0.90083	D	-0.62	0.18248	N	0.109	0.10056	0.599	0.91886	D	0.689	0.89265	D	9	0.22368947	0.39154	T	0.040364	0.59336	D	0.359	0.67962	0.426	0.47185	0.889172268611	0.88808	0.26785127492099353	0.26698	0.0981725950448	0.11081	0.324926793575	0.14167	T	0.002937	0.02330	T	0.0563497	0.59154	T	-0.156834	0.58636	T	0.822085797786713	0.47927	D	0.846715	0.52677	T	0.03929498	0.05398	0.061104063	0.11745	0.03929498	0.05398	0.061104063	0.11744	-4.837	0.35019	T	.	.	0.109	0.21428	B	.;.;.	.;.;.	2.744878	0.35961	20.1	0.99608847036585391	0.74694	0.87870	0.47561	D	ALL	0.398870	0.47437	N	0.308062512820643	0.56562	3.821038	0.319670737389233	0.56698	3.833401	0.99999999999903	0.74766	0.77792	0.99625	0	0.724815	0.89359	0	0.854111	0.99894	0	0.699908	0.69081	0	.	.	5.46	5.46	0.80021	4.332000	0.59063	9.954000	0.82748	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.904000	0.43992	0.0881:0.0:0.9119:0.0	12.013	0.52590	884	0.28482	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1730.98	144	chr13	39047804	.	G	A	1730.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.812;DP=840;ExcessHet=0.0000;FS=6.099;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.02;ReadPosRankSum=-1.219e+00;SOR=1.158	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1344	20	0	1	0
chr13	41614982	41614982	C	T	exonic	VWA8	.	nonsynonymous SNV	VWA8:NM_015058:exon38:c.G4714A:p.G1572R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.989	D	0.000	D	1.000	D	2.82	M	1.68	T	-0.669	T	0.216	T	0.966	5.450	35	6.08	2.894	7.408	18.436	0.560	0.0851744721853	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs756577838	1.095e-05	1.094e-05	1.226e-05	9.632e-06	5.979e-05	6.48e-06	5.25e-06	9.9e-06	3.7e-06	5.979e-05	2.236e-05	0	2.52e-05	0	0	8.994e-06	1.658e-05	1.16e-05	1.314e-05	1.313e-05	2.57e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.053135	1	0.81001	D	2.465	0.71551	M	1.68	0.27184	T	-7.22	0.94274	D	0.914	0.91621	-0.6690	0.61874	T	0.216	0.57836	T	10	0.85666496	0.84866	D	0.085174	0.74477	D	0.560	0.81946	0.49	0.57573	0.325533332567	0.32158	0.9426834397499202	0.94249	0.387741669221	0.40048	0.88566750288	0.94710	D	0.47063	0.80367	T	0.210379	0.74866	D	0.147283	0.80013	D	0.998420238494873	0.94111	D	0.90061	0.65471	D	0.7825639	0.82811	0.845212	0.91184	0.7825639	0.82813	0.845212	0.91184	-11.911	0.84414	D	.	.	0.974	0.90004	P	.	.	5.389913	0.90296	31	0.99944863188721167	0.99886	0.94287	0.60687	D	AEFDBCIJ	0.896857	0.83839	D	0.962850816716227	0.94480	12.79204	0.937440025844632	0.97007	15.45318	1.0	0.98316	0.693126	0.56070	0	0.653731	0.59785	0	0.659464	0.59346	0	0.654926	0.60358	0	.	.	6.08	6.08	0.98982	7.574000	0.81754	7.692000	0.65839	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:1.0:0.0:0.0	18.436	0.90595	674	0.60593	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1070.98	42	chr13	41614982	.	C	T	1070.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=797;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=0.881;SOR=0.793	GT:AD:DP:GQ:PL	0/1:43,43:86:99:1085,0,995	20	0	1	0
chr13	41671052	41671052	A	T	exonic	VWA8	.	nonsynonymous SNV	VWA8:NM_015058:exon37:c.T4505A:p.V1502D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.996	D	0.000	D	1.000	D	2.085	M	2.38	T	-0.996	T	0.117	T	0.984	3.298	17.08	5.57	2.133	9.300	15.74	0.649	0.0747450813781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.475	0.71894	M	2.38	0.15843	T	-4.37	0.77061	D	0.951	0.95956	-0.9961	0.31001	T	0.117	0.41275	T	10	0.89012784	0.88353	D	0.074745	0.72116	D	0.649	0.86736	0.694	0.83126	0.229264304666	0.22521	0.9310296880643112	0.93081	0.44573178934	0.44459	0.581262469292	0.50263	T	0.239864	0.60808	T	0.24371	0.78012	D	0.112296	0.77725	D	0.994207739830017	0.85362	D	0.957304	0.83911	D	0.8876927	0.90310	0.87337136	0.93100	0.8876927	0.90311	0.87337136	0.93100	-10.562	0.77203	D	.	.	0.986	0.92530	P	.	.	4.357989	0.66997	25.0	0.98253737976155975	0.39603	0.99014	0.89972	D	AEFDGBI	0.882286	0.81029	D	0.685028698641901	0.78652	6.914792	0.620066303195854	0.76397	6.483759	0.999999999999655	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.57	5.57	0.84021	9.290000	0.95109	11.113000	0.86368	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.294000	0.24357	1.0:0.0:0.0:0.0	15.74	0.77652	673	0.60677	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3027.98	38	chr13	41671052	.	A	T	3027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.190e-01;DP=926;ExcessHet=0.0000;FS=2.218;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=-1.078e+00;SOR=0.868	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1245	20	0	1	0
chr13	41891502	41891502	T	C	exonic	VWA8	.	nonsynonymous SNV	VWA8:NM_001009814:exon5:c.A569G:p.N190S	.	.	425	1093	4	0	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.999	D	0.000	D	1.000	D	3.21	M	1.55	T	-0.484	T	0.259	T	0.353	4.900	28.2	5.71	2.307	7.750	16.283	0.398	0.047364464588	.	0.000599042	0.0003	0	0.0003	0	0	2.997e-05	0.0011	0.0018	0.0002587	40	154602	rs556482884	0.0001	0.0001	7.487e-05	0.0002	0.0021	0.0001	0.0001	0.0019	0.0018	0	8.944e-05	0	0	0	0.0005	3.597e-06	0.0001	0.0021	7.877e-05	7.874e-05	5.139e-05	0.0001	0.0023	4.492e-05	3.509e-05	0.0013	0.0010	0	0	0	0	0	0	0	1.47e-05	0	0.0023	0.006	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.27	0.90083	M	1.55	0.29866	T	-4.32	0.76740	D	0.902	0.90251	-0.4837	0.69234	T	0.259	0.63021	T	10	0.1147556	0.21600	T	0.047364	0.62888	D	0.398	0.71242	0.462	0.53079	0.538745750885	0.53527	0.6952929199558897	0.69470	0.333611242029	0.35398	0.790353834629	0.80496	T	0.526795	0.83551	D	-0.354952	0.04424	T	-0.289425	0.45833	T	0.367520915488021	0.27702	T	0.968903	0.88767	D	0.8251901	0.85572	0.7578652	0.85692	0.8251901	0.85573	0.7578652	0.85692	-11.395	0.81780	D	.	.	0.934	0.85369	P	.;.	.;.	4.543882	0.71454	25.7	0.99904964521962714	0.97576	0.97898	0.77962	D	AEFBI	0.868963	0.78930	D	0.905888233167163	0.92044	11.20336	0.85574728734157	0.93346	11.98301	0.999999996489793	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.71	5.71	0.89031	7.709000	0.83610	7.817000	0.69620	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:0.0:1.0	16.283	0.82530	833	0.38804	ATPase, dynein-related, AAA domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1947.98	41	chr13	41891502	.	T	C	1947.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=1141;ExcessHet=0.0000;FS=0.585;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=-6.880e-01;SOR=0.760	GT:AD:DP:GQ:PL	0/0:59,0:59:99:0,120,1800	20	0	1	0
chr13	42166530	42166530	C	A	exonic	DGKH	.	nonsynonymous SNV	DGKH:NM_001297429:exon5:c.C239A:p.T80K	.	.	440	1080	2	0	0	2	0.000925069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	1.0	D	0.997	D	0.000	D	1.000	D	1.095	L	1.9	T	0.034	D	0.584	D	0.796	4.258	22.2	5.81	2.747	7.776	20.079	0.435	0.0681455256436	0.0016	0.000998403	0.0024	9.647e-05	0.0004	0	0.0062	0.0034	0.0022	0.0009	0.0022703	351	154602	rs61756564	0.0027	0.0026	0.0027	0.0026	0.0030	0.0026	0.0025	0.0029	0.0028	0.0004	0.0003	0.0002	0	0.0059	0.0002	0.0030	0.0022	0.0006	0.0015	0.0015	0.0015	0.0014	0.0021	0.0013	0.0013	0.0019	0.0018	0.0003	0	0.0010	0	0	0.0042	0	0.0021	0.0019	0.0008	0.01	0.56456	D	0.382	0.25362	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.87	0.49600	L	-1.41	0.80560	T	-3.52	0.68412	D	0.833	0.82862	0.034	0.82926	D	0.584	0.85048	D	10	0.01274848	0.00273	T	0.068146	0.70367	D	0.435	0.74022	.	.	0.709627241269	0.70709	0.7270321109951988	0.72647	1.43713620265	0.85906	0.656876266003	0.60963	T	0.223184	0.58725	T	-0.0704008	0.41262	T	0.122733	0.78414	D	0.0495550281332015	0.05421	T	0.89601	0.63722	D	0.2471338	0.47688	0.29328346	0.55356	0.2471338	0.47688	0.29328346	0.55356	-6.622	0.51410	T	.	.	0.287	0.51942	B	.;.;.;.;.	.;.;.;.;.	3.894984	0.56694	23.8	0.99147396431828128	0.53709	0.98575	0.84269	D	AEFBI	0.889730	0.82409	D	0.479778140096686	0.65910	4.882356	0.562872770215528	0.72297	5.787751	0.999999999999999	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.81	5.81	0.92413	7.905000	0.86479	5.963000	0.51859	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.892000	0.42986	0.0:1.0:0.0:0.0	20.079	0.97766	779	0.47767	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	951.98	42	chr13	42166530	.	C	A	951.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.650;DP=760;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.11;ReadPosRankSum=0.592;SOR=0.818	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1025	20	0	1	0
chr13	42299753	42299753	C	T	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.C1007T:p.P336L,	.	.	425	1083	14	0	0	14	0.00642202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	1.995	M	0.9	T	-0.598	T	0.262	T	0.829	4.090	21.1	5.44	2.702	7.414	19.622	0.373	0.0830547615661	7.7e-05	.	0.0003	0	0	0	0	0.0005	0.0011	0.0002	0.0002393	37	154602	rs200013198	0.0001	0.0001	8.849e-05	0.0001	0.0019	9.469e-05	8.951e-05	0.0011	0.0008	0	0	0.0028	0	0	0.0019	3.328e-05	0.0003	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	9.147e-05	7.703e-05	2.848e-05	1.859e-05	2.406e-05	0	0	0.0032	0	0	0.0034	7.354e-05	0.0009	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.62	0.76659	M	0.9	0.45248	T	-3.1	0.63554	D	0.813	0.80866	-0.5984	0.64883	T	0.262	0.63350	T	10	0.20259649	0.36385	T	0.083055	0.74032	D	0.373	0.69188	.	.	0.393040851499	0.38920	0.3323643023609089	0.33149	0.312555824409	0.33555	0.714938163757	0.69309	T	0.194663	0.55050	T	-0.0349635	0.46692	T	0.0179776	0.71500	D	0.228416496778648	0.21877	T	0.933407	0.75038	D	0.44380254	0.63646	0.42054585	0.66014	0.44380254	0.63647	0.42054585	0.66014	-4.762	0.34145	T	.	.	0.728	0.74126	P	.	.	4.646740	0.74025	26.1	0.99879125904177124	0.95572	0.98852	0.87708	D	AEFBI	0.859704	0.77742	D	0.822634093487726	0.87498	9.239443	0.810149163810338	0.90490	10.43128	0.999999999997065	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	7.474000	0.80024	7.720000	0.67265	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.622	0.95655	695	0.58372	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1880.98	35	chr13	42299753	.	C	T	1880.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.680;DP=1075;ExcessHet=0.0000;FS=0.574;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=-1.573e+00;SOR=0.678	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1174	20	0	1	0
chr13	42300459	42300459	A	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.A1713C:p.K571N,	.	.	435	1083	4	0	0	4	0.00184332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.99	D	0.000	D	0.993	D	2.075	M	1.91	T	-0.948	T	0.131	T	0.21	2.894	15.64	3.19	1.068	1.235	9.029	0.086	0.0244543123646	0.0015	0.000199681	0.0018	0.0005	0.0007	0.0002	0	0.0026	0.0022	0.0013	0.0017852	276	154602	rs63263761	0.0024	0.0024	0.0024	0.0024	0.0029	0.0023	0.0023	0.0028	0.0028	0.0003	0.0003	0	5.038e-05	0.0003	0.0007	0.0029	0.0013	0.0017	0.0015	0.0015	0.0018	0.0011	0.0028	0.0013	0.0012	0.0024	0.0023	0.0005	0	0.0003	0	0	0.0004	0	0.0028	0.0009	0.0008	0.001	0.78490	D	0.009	0.66756	D	1.0	0.90584	D	0.99	0.78936	D	0.000002	0.62929	D	0.056177	0.993	0.41837	D	2.215	0.62545	M	1.91	0.23283	T	-1.37	0.33998	N	0.61	0.62696	-0.9482	0.41279	T	0.131	0.44148	T	10	0.049710065	0.04598	T	0.024454	0.47448	T	0.086	0.25016	0.291	0.25241	0.612931835457	0.60981	0.5791552588564759	0.57844	0.328080897004	0.34932	0.658848464489	0.61243	T	0.124958	0.45035	T	-0.487294	0.00672	T	-0.467613	0.25774	T	0.0274438557142892	0.01608	T	0.880312	0.59828	D	0.30550373	0.53394	0.34610397	0.60283	0.30550373	0.53394	0.34610397	0.60283	-5.3	0.39943	T	.	.	0.621	0.69747	P	.	.	2.945607	0.39182	20.9	0.99836413770655441	0.91714	0.89102	0.49369	D	AEFBCI	0.332199	0.43168	N	0.456105258242521	0.64550	4.712106	0.403818553170386	0.61800	4.385578	0.996985623668977	0.35173	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.63	3.19	0.35720	1.219000	0.32083	2.612000	0.33583	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.7917:0.0:0.2083:0.0	9.029	0.35412	689	0.59000	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2519.98	35	chr13	42300459	.	A	C	2519.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.562e+00;DP=1100;ExcessHet=0.0000;FS=2.242;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.38;ReadPosRankSum=-1.444e+00;SOR=0.964	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,108,1174	20	0	1	0
chr13	42300460	42300460	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G1714C:p.G572R,	.	.	434	1084	4	0	0	4	0.00184162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.075	M	0.96	T	-0.584	T	0.274	T	0.914	3.549	18.10	5.63	2.803	7.504	20.043	0.325	0.0502184205417	0.0015	0.000199681	0.0018	0.0005	0.0007	0.0002	0	0.0026	0.0022	0.0013	0.0017852	276	154602	rs74623853	0.0024	0.0024	0.0024	0.0024	0.0029	0.0023	0.0023	0.0028	0.0028	0.0003	0.0003	0	5.038e-05	0.0003	0.0007	0.0029	0.0013	0.0017	0.0015	0.0015	0.0018	0.0011	0.0028	0.0013	0.0012	0.0024	0.0023	0.0005	0	0.0003	0	0	0.0004	0	0.0028	0.0009	0.0008	0.001	0.78490	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000005	0.62929	D	0.060487	1	0.81001	D	2.255	0.64187	M	0.96	0.42888	T	-2.8	0.59226	D	0.904	0.90476	-0.5844	0.65443	T	0.274	0.64546	T	10	0.13056836	0.24847	T	0.050218	0.64147	D	0.325	0.64725	0.336	0.32491	0.524456804389	0.52091	0.5809211186057059	0.58021	0.331336736303	0.35210	0.717214345932	0.69641	T	0.141083	0.47595	T	-0.0673264	0.41755	T	0.135641	0.79261	D	0.0337307783289981	0.02593	T	0.958204	0.84269	D	0.61634964	0.73568	0.6605272	0.80110	0.61634964	0.73569	0.6605272	0.80111	-5.447	0.41369	T	.	.	0.837	0.79107	P	.	.	4.654354	0.74232	26.1	0.99912715898164861	0.98167	0.97201	0.73286	D	AEFBCI	0.871059	0.79228	D	0.849951053904342	0.89105	9.836831	0.841100586641926	0.92485	11.45386	0.999999995138716	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	7.595000	0.81968	11.909000	0.99543	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.043	0.97597	689	0.59000	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2519.98	35	chr13	42300460	.	G	C	2519.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.150e-01;DP=1101;ExcessHet=0.0000;FS=2.242;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.38;ReadPosRankSum=-1.381e+00;SOR=0.964	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,108,1174	20	0	1	0
chr13	42300902	42300902	G	A	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G2156A:p.S719N,	.	.	.	.	.	.	.	.	.	.	.	2337460	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.36	B	0.139	B	0.000	N	0.999	D	0.745	N	1.82	T	-1.105	T	0.049	T	0.152	2.221	13.38	5.13	1.517	7.563	14.324	0.047	0.0116550215927	.	.	3.297e-05	0	0	0	0	4.498e-05	0	6.064e-05	2.59e-05	4	154602	rs548020698	8.893e-06	8.893e-06	5.445e-06	1.238e-05	2.236e-05	4.96e-06	3.82e-06	3.1e-06	2.24e-06	0	2.236e-05	0	0	0	0	7.195e-06	4.968e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.23007	T	0.131	0.34596	T	0.36	0.33860	B	0.139	0.33484	B	0.000002	0.62929	N	0.095656	0.998857	0.45564	D	1.445	0.36358	L	1.82	0.25018	T	-1.17	0.29933	N	0.225	0.25253	-1.1047	0.03567	T	0.049	0.20789	T	10	0.19073704	0.34730	T	0.011655	0.29486	T	0.047	0.12962	0.402	0.43245	0.259504319725	0.25562	0.6299750719488352	0.62931	0.0807488137742	0.09089	0.530196547508	0.43063	T	0.023381	0.17856	T	-0.256402	0.13325	T	-0.498423	0.22511	T	0.229758054018021	0.21940	T	0.823318	0.48387	T	0.10154866	0.23988	0.14863048	0.35127	0.10154866	0.23988	0.14863048	0.35126	-5.886	0.45316	T	.	.	0.166	0.36614	B	.	.	3.008697	0.40229	21.1	0.99022356778063159	0.50613	0.96519	0.69544	D	AEFGBCI	0.856420	0.77365	D	0.121034492461188	0.47446	2.970106	0.283539807207062	0.54579	3.622368	0.999999999431591	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.98	5.13	0.69729	7.683000	0.83394	5.854000	0.50366	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0719:0.0:0.9281:0.0	14.324	0.66065	687	0.59234	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2386.98	35	chr13	42300902	.	G	A	2386.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.305e+00;DP=1170;ExcessHet=0.0000;FS=0.566;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=0.348;SOR=0.778	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1174	20	0	1	0
chr13	42301410	42301410	A	T	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.A2664T:p.L888F,	.	.	430	1082	10	0	0	10	0.00459982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.091	B	0.049	B	0.021	N	0.732	D	0.715	N	2.47	T	-1.031	T	0.019	T	0.348	0.131	4.703	-0.669	0.183	0.494	0.115	0.103	.	.	0.00539137	0.0023	0.0001	0.0002	0	0	4.625e-05	0.0034	0.0158	0.0019081	295	154602	rs199621082	0.0009	0.0009	0.0005	0.0013	0.0145	0.0009	0.0009	0.0138	0.0136	5.979e-05	0	0	2.52e-05	0	0.0019	7.195e-06	0.0010	0.0145	0.0006	0.0006	0.0003	0.0009	0.0178	0.0005	0.0005	0.0148	0.0137	0	0	0	0	0	0	0	7.35e-05	0	0.0178	0.301	0.14449	T	0.785	0.04260	T	0.091	0.25247	B	0.049	0.25116	B	0.021021	0.26919	N	0.350973	0.732049	0.33729	D	1.895	0.50365	L	2.47	0.14783	T	0.2	0.04861	N	0.051	0.02272	-1.0307	0.20227	T	0.019	0.07846	T	10	0.0027727783	0.00043	T	.	.	.	0.103	0.29403	0.235	0.16457	0.291402777868	0.28757	0.12086352208032518	0.12013	0.0497722152176	0.05457	0.316211760044	0.12847	T	0.003163	0.02566	T	-0.526997	0.00400	T	-0.516798	0.20620	T	0.0346910083638412	0.02755	T	0.756624	0.37993	T	0.01710834	0.00246	0.033184696	0.02172	0.01710834	0.00246	0.033184696	0.02171	-4.201	0.26766	T	.	.	0.110	0.21049	B	.	.	1.441305	0.18608	13.83	0.85628853784087855	0.16012	0.67031	0.33286	D	AEFBCI	0.059995	0.11371	N	-0.529939406665623	0.21117	1.118328	-0.42128112044834	0.24373	1.334344	0.987886489360601	0.31363	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	6.03	-0.669	0.10815	0.491000	0.22128	1.314000	0.25557	0.756000	0.94297	0.997000	0.40164	0.998000	0.33993	0.972000	0.54974	0.3345:0.2004:0.2288:0.2363	0.115	0.00055	680	0.59965	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1969.98	35	chr13	42301410	.	A	T	1969.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.290e-01;DP=1226;ExcessHet=0.0000;FS=4.458;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.26;ReadPosRankSum=-2.430e+00;SOR=0.634	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1174	20	0	1	0
chr13	42303096	42303096	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4350C:p.E1450D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.046	B	0.04	B	0.002	N	1.000	N	2.215	M	0.63	T	-1.000	T	0.101	T	0.137	-0.356	2.320	-3.37	-0.634	-0.442	4.234	0.043	0.0317518443811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.0	0.92824	D	0.046	0.21875	B	0.04	0.23831	B	0.002236	0.36970	N	0.258788	0.999802	0.20292	N	2.35	0.67516	M	0.63	0.53088	T	-0.98	0.25986	N	0.158	0.16447	-0.9998	0.29973	T	0.101	0.37443	T	10	0.07147744	0.10542	T	0.031752	0.53753	D	0.043	0.11576	0.193	0.10437	0.387475297304	0.38358	0.24412387893795467	0.24326	0.0536418645846	0.05925	0.276347875595	0.06989	T	0.015482	0.12979	T	-0.216966	0.18409	T	-0.549433	0.17381	T	0.154120936989784	0.17427	T	0.60444	0.22695	T	0.070583634	0.15560	0.053213075	0.08918	0.070583634	0.15559	0.053213075	0.08918	-3.609	0.17987	T	.	.	0.104	0.18705	B	.	.	-0.436613	0.02079	0.193	0.89464399913280646	0.18819	0.23250	0.22015	N	AEFBCI	0.138667	0.26003	N	-1.04216664049654	0.07742	0.3606713	-1.15099279227403	0.06750	0.3259806	0.997690503067831	0.35915	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-3.37	0.04591	-0.421000	0.07118	0.185000	0.15676	-0.113000	0.14837	0.000000	0.06391	0.001000	0.17328	0.020000	0.11549	0.4718:0.0967:0.3341:0.0974	4.234	0.10068	675	0.60470	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	342.11	35	chr13	42303096	.	G	C	342.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.322e+00;DP=1730;ExcessHet=0.1072;FS=154.189;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=1.35;ReadPosRankSum=1.50;SOR=8.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,108,1174	19	0	2	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.0	B	0.0	B	0.384	N	1.000	N	-1.1	N	1.03	T	-1.049	T	0.025	T	0.042	-1.565	0.015	-6.75	-1.034	0.234	0.459	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	7061.0	123	chr13	42303097	.	G	C	7061.0	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-4.570e+00;DP=3154;ExcessHet=43.6797;FS=339.584;InbreedingCoeff=-0.9521;MLEAC=21;MLEAF=0.525;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=0.878;SOR=13.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:103,54:157:99:.:.:493,0,2416	0	0	20	1
chr13	42303615	42303615	T	G	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.T4869G:p.F1623L,	.	.	434	1078	10	0	0	10	0.00461681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.837	N	1.000	N	-1.995	N	1.18	T	-0.986	T	0.017	T	0.036	-2.495	0.003	-2.79	-0.767	-1.372	6.704	0.019	.	.	0.00539137	0.0022	9.686e-05	0.0002	0	0	4.497e-05	0.0033	0.0157	0.0019081	295	154602	rs201849831	0.0009	0.0009	0.0005	0.0013	0.0145	0.0009	0.0009	0.0138	0.0136	5.974e-05	0	0	2.519e-05	0	0.0019	7.194e-06	0.0010	0.0145	0.0006	0.0006	0.0003	0.0009	0.0178	0.0005	0.0005	0.0148	0.0136	0	0	0	0	0	0	0	7.351e-05	0	0.0178	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.836796	0.06975	N	1.077080	1	0.08975	N	-0.055	0.04927	N	1.18	0.37746	T	0.1	0.05810	N	0.012	0.00125	-0.9862	0.33542	T	0.017	0.06902	T	10	0.0024484992	0.00037	T	.	.	.	0.019	0.03383	0.222	0.14518	0.182106788282	0.17826	0.14169314813642236	0.14092	0.0489801297359	0.05355	0.291328310966	0.09116	T	0.001013	0.00548	T	-0.701291	0.00036	T	-0.766507	0.02885	T	0.0109433745280605	0.00157	T	0.505449	0.15971	T	0.027550237	0.01962	0.04011886	0.04263	0.027550237	0.01961	0.04011886	0.04263	-2.257	0.04326	T	.	.	0.408	0.60046	A	.	.	-1.470764	0.00313	0.005	0.17561501460575724	0.00517	0.14078	0.18210	N	AEFGBCI	0.047085	0.07891	N	-1.7853795833346	0.00582	0.02506885	-1.69766425710306	0.01148	0.05162225	0.999976252655354	0.50053	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.5	-2.79	0.05494	-1.125000	0.03368	-0.931000	0.06883	-0.122000	0.13826	0.000000	0.06391	0.000000	0.08366	0.110000	0.18741	0.0:0.3456:0.244:0.4103	6.704	0.22427	672	0.60758	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2116.98	33	chr13	42303615	.	T	G	2116.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.971;DP=925;ExcessHet=0.0000;FS=0.609;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.02;ReadPosRankSum=1.37;SOR=0.795	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	20	0	1	0
chr13	42313938	42313938	A	T	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon11:c.A5402T:p.E1801V,	.	.	.	.	.	.	.	.	.	0.5799	0.428	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.98	D	0.773	P	0.010	N	1.000	D	2.075	M	2.4	T	-1.108	T	0.063	T	0.295	2.668	14.88	3.18	1.005	2.865	5.571	0.086	0.012449205276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.087	0.40747	T	0.98	0.59353	D	0.773	0.56974	P	0.010271	0.29994	N	0.319059	1	0.81001	D	2.79	0.81396	M	2.4	0.15608	T	-1.07	0.27876	N	0.404	0.44474	-1.1078	0.03265	T	0.063	0.26244	T	10	0.3221875	0.49571	T	0.012449	0.31033	T	0.086	0.25016	0.342	0.33464	0.334371577756	0.33041	0.2504081528049408	0.24954	0.203387455224	0.22757	0.290207922459	0.08953	T	0.005407	0.04862	T	-0.15514	0.27511	T	-0.460625	0.26530	T	0.875454008579254	0.52533	D	0.713029	0.32487	T	0.07885204	0.17980	0.07329216	0.15911	0.07885204	0.17979	0.07329216	0.15911	-4.473	0.30534	T	.	.	0.147	0.32396	B	.	.	6.346253	0.95055	34	0.9881166610507891	0.46623	0.93216	0.57628	D	AEFBI	0.367349	0.45484	N	0.327776301476438	0.57579	3.925718	0.28963903453194	0.54934	3.657071	0.997469958504112	0.35646	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.72	3.18	0.35615	2.872000	0.48165	6.862000	0.56765	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.764000	0.36293	0.7087:0.1457:0.1456:0.0	5.571	0.16478	657	0.62240	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1844.98	37	chr13	42313938	.	A	T	1844.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.055;DP=858;ExcessHet=0.0000;FS=2.720;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=0.239;SOR=0.868	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1212	20	0	1	0
chr13	42917545	42917545	T	G	exonic	EPSTI1	.	nonsynonymous SNV	EPSTI1:NM_001331228:exon7:c.A356C:p.Q119P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.965	D	0.663	P	0.643	N	1.000	N	1.95	M	1.95	T	-1.044	T	0.072	T	0.596	1.000	9.083	0.463	0.006	0.094	7.115	0.116	0.00893263065901	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1184115838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.031	0.54934	D	0.965	0.56013	D	0.663	0.52893	P	0.642864	0.10583	N	0.831722	0.999943	0.19238	N	2.14	0.59869	M	1.95	0.22474	T	-2.87	0.61129	D	0.614	0.63459	-1.0445	0.15971	T	0.072	0.29291	T	10	0.3082819	0.48325	T	0.008933	0.23535	T	0.116	0.32463	0.22	0.14224	0.290962096972	0.28708	0.295559408752203	0.29468	0.520747388176	0.49866	0.260202109814	0.04914	T	0.046555	0.27458	T	-0.0881745	0.38378	T	-0.364433	0.37539	T	0.612977738312738	0.36920	D	0.720728	0.34152	T	0.31904098	0.54559	0.3672125	0.62035	0.31904098	0.54559	0.3672125	0.62035	-8.616	0.66531	D	.	.	0.426	0.60988	A	.;.;.	.;.;.	1.876585	0.23837	16.17	0.98231536146831466	0.39396	0.18400	0.20245	N	AEFI	0.384958	0.46588	N	-0.469811308401626	0.23074	1.236536	-0.666949864066207	0.17789	0.9474701	0.0979708819114805	0.16293	0.732398	0.92422	0	0.743671	0.97443	0	0.618467	0.43123	0	0.836244	0.99985	0	.	.	4.23	0.463	0.15912	0.155000	0.16180	-0.977000	0.06726	-0.123000	0.13640	0.009000	0.18154	0.001000	0.17328	0.264000	0.23619	0.0:0.4004:0.0:0.5996	7.115	0.24588	497	0.76227	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1271.98	34	chr13	42917545	.	T	G	1271.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.900e-02;DP=802;ExcessHet=0.0000;FS=1.755;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.29;ReadPosRankSum=-7.430e-01;SOR=0.500	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1440	20	0	1	0
chr13	43023655	43023655	T	C	exonic	DNAJC15	.	nonsynonymous SNV	DNAJC15:NM_013238:exon1:c.T29C:p.V10A,	.	.	.	.	.	.	.	.	.	.	.	2368519	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.547	N	1.000	N	-1.1	N	1.07	T	-0.988	T	0.029	T	0.049	-0.842	0.568	2.57	0.396	1.056	5.884	0.053	0.00529327186012	7.7e-05	0.000199681	6.408e-05	0.0001	0	0	0	5.779e-05	0.0015	7.405e-05	4.53e-05	7	154602	rs373664935	3.767e-05	3.762e-05	3.952e-05	3.58e-05	0.0005	2.963e-05	2.659e-05	0.0001	7.546e-05	5.984e-05	6.723e-05	0	0	0	0.0005	3.959e-05	3.315e-05	1.164e-05	7.877e-05	7.874e-05	7.707e-05	8.055e-05	0.0002	4.492e-05	3.509e-05	7.869e-05	5.573e-05	0.0002	0	0	0	0	0	0	5.879e-05	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.547414	0.11472	N	0.773484	1	0.08975	N	-1.5	0.00507	N	1.07	0.39586	T	0.64	0.02368	N	0.044	0.01658	-0.9884	0.33002	T	0.029	0.12497	T	10	0.022494525	0.00563	T	0.005293	0.13525	T	0.053	0.14996	.	.	0.0611884634855	0.05136	0.3735473521013621	0.37268	0.0383716600576	0.04084	0.494765818119	0.38099	T	0.002124	0.01528	T	-0.454866	0.01057	T	-0.707769	0.05411	T	0.0234838462076367	0.01081	T	0.292871	0.05381	T	0.025852839	0.01572	0.044325184	0.05718	0.025852839	0.01571	0.044325184	0.05718	-2.506	0.05822	T	.	.	0.048	0.00086	B	.	.	0.893941	0.12673	9.199	0.38891730489664789	0.02651	0.00043	0.00351	N	ALL	0.088138	0.17868	N	-1.45909538905047	0.02146	0.09445091	-1.36158738781984	0.03671	0.1717287	0.999999999999985	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.53	2.57	0.29928	1.080000	0.30390	0.082000	0.14403	-0.219000	0.08017	0.006000	0.17386	0.000000	0.08366	0.002000	0.04165	0.0:0.721:0.0:0.279	5.884	0.18115	775	0.48401	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1085.98	33	chr13	43023655	.	T	C	1085.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.945;DP=797;ExcessHet=0.0000;FS=1.688;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=-1.459e+00;SOR=0.972	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1186	20	0	1	0
chr13	43107202	43107202	A	G	exonic	DNAJC15	.	nonsynonymous SNV	DNAJC15:NM_013238:exon6:c.A407G:p.K136R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.999	D	0.98	D	0.000	D	1.000	D	1.715	L	1.53	T	-0.933	T	0.155	T	0.639	3.884	19.74	5.25	2.330	5.692	13.814	0.221	0.0190848075925	.	.	1.07e-05	0	0	0	0	2.095e-05	0	0	6.5e-06	1	154602	rs760852761	6.923e-07	6.84e-07	0	1.392e-06	9.053e-07	0	0	.	.	0	0	0	0	0	0	9.053e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	0.999	0.77913	D	0.98	0.74843	D	0.000000	0.84330	D	0.048259	0.999998	0.58761	D	0.95	0.23787	L	1.53	0.30401	T	-2.84	0.59873	D	0.602	0.62018	-0.9326	0.43755	T	0.155	0.48619	T	10	0.65430313	0.69783	D	0.019085	0.41356	T	0.221	0.51721	0.588	0.71623	0.218845423259	0.21516	0.5521894939511144	0.55144	0.213200525594	0.23830	0.510524511337	0.40296	T	0.225391	0.59010	T	0.00799026	0.52751	T	-0.226299	0.52130	T	0.913818001747131	0.57022	D	0.893711	0.63166	D	0.6046346	0.72940	0.5370135	0.73245	0.6046346	0.72941	0.5370135	0.73246	-8.081	0.61621	D	.	.	0.243	0.47708	B	.	.	4.349258	0.66783	25.0	0.99877934657672174	0.95491	0.94884	0.62664	D	AEFDBI	0.881391	0.80872	D	0.594178650479115	0.72810	5.864752	0.56666087723304	0.72565	5.829789	0.999999340943683	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.25	5.25	0.73169	4.887000	0.62848	9.251000	0.79490	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.846000	0.39970	1.0:0.0:0.0:0.0	13.814	0.62773	851	0.35303	DnaJ domain|DnaJ domain|DnaJ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	929.98	33	chr13	43107202	.	A	G	929.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.144;DP=757;ExcessHet=0.0000;FS=3.288;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.48;ReadPosRankSum=-2.400e-02;SOR=0.666	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1244	20	0	1	0
chr13	44573380	44573380	C	T	exonic	TSC22D1	.	nonsynonymous SNV	TSC22D1:NM_183422:exon1:c.G2695A:p.A899T,	.	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.006	B	0.005	B	0.050	N	1.000	D	0.255	N	-2.06	D	-0.881	T	0.170	T	0.202	0.205	5.102	2.09	0.686	1.011	9.701	0.148	.	0.0065	0.00259585	0.0085	0.0009	0.0016	0	0.0319	0.0117	0.0110	0.0004	0.0083117	1285	154602	rs61947992	0.0090	0.0090	0.0093	0.0086	0.0098	0.0089	0.0088	0.0096	0.0096	0.0014	0.0017	0.0007	0	0.0298	0.0005	0.0098	0.0080	0.0004	0.0071	0.0071	0.0067	0.0076	0.0101	0.0068	0.0066	0.0095	0.0093	0.0014	0	0.0025	0	0	0.0271	0	0.0101	0.0052	0.0004	0.646	0.04912	T	0.553	0.09329	T	0.006	0.13644	B	0.005	0.11217	B	0.049510	0.23154	N	0.366671	0.556471	0.81001	D	0.55	0.14455	N	-2.06	0.85875	D	1.53	0.00711	N	0.15	0.15328	-0.8810	0.49681	T	0.170	0.51036	T	10	0.0036276877	0.00066	T	.	.	.	0.148	0.39182	.	.	0.231005064126	0.22704	0.5171799163343556	0.51640	0.0701451023839	0.07856	0.362534403801	0.19754	T	0.047362	0.27700	T	-0.381456	0.03050	T	-0.30968	0.43693	T	0.00869644589079774	0.00107	T	0.80032	0.44603	T	0.046290386	0.07724	0.054764003	0.09479	0.046290386	0.07723	0.054764003	0.09478	-4.09	0.25142	T	.	.	0.069	0.03162	B	.	.	2.759015	0.36180	20.2	0.86657193600043403	0.16684	0.61751	0.31577	D	AEFDGBCI	0.060808	0.11582	N	-0.552100686731857	0.20418	1.076204	-0.365972607507804	0.26020	1.434541	0.999999141576406	0.74766	0.72623	0.87236	0	0.60822	0.50512	0	0.594344	0.31042	0	0.735409	0.98432	0	.	.	5.02	2.09	0.26154	1.042000	0.29914	2.167000	0.31025	0.599000	0.40250	0.988000	0.36536	1.000000	0.68203	0.997000	0.79791	0.0:0.7294:0.0:0.2706	9.701	0.39350	931	0.16308	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2356.98	33	chr13	44573380	.	C	T	2356.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.264e+00;DP=854;ExcessHet=0.0000;FS=2.876;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.41;ReadPosRankSum=-7.720e-01;SOR=0.667	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1142	20	0	1	0
chr13	44573919	44573919	G	A	exonic	TSC22D1	.	nonsynonymous SNV	TSC22D1:NM_183422:exon1:c.C2156T:p.A719V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.295	B	0.188	B	0.001	D	1.000	D	0.805	L	1.43	T	-1.087	T	0.065	T	0.334	2.980	15.94	4.77	2.470	8.701	16.951	0.094	0.0132398934628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.199	0.27679	T	0.295	0.32424	B	0.188	0.36237	B	0.000628	0.42799	D	0.102898	0.999554	0.81001	D	1.65	0.42232	L	1.43	0.32958	T	-1.27	0.31981	N	0.453	0.49055	-1.0867	0.06102	T	0.065	0.26772	T	10	0.2075544	0.37055	T	0.01324	0.32488	T	0.094	0.27141	0.143	0.04650	0.0675242888579	0.06100	0.5704165735170944	0.56969	0.197175312124	0.22091	0.419720649719	0.27797	T	0.108428	0.42145	T	-0.0676298	0.41704	T	-0.334922	0.40919	T	0.911218762397766	0.56671	D	0.834817	0.50404	T	0.18308887	0.39559	0.18840368	0.42128	0.18308887	0.39559	0.18840368	0.42127	-3.123	0.11563	T	.	.	0.090	0.12512	B	.	.	4.019371	0.59351	24.1	0.99747254019587961	0.84002	0.97207	0.73322	D	AEFDBHCI	0.867202	0.78688	D	0.152106640106375	0.48911	3.09768	0.305725984331292	0.55874	3.750411	0.999999999999999	0.74766	0.722319	0.85440	0	0.958517	0.99986	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	4.77	4.77	0.60425	9.070000	0.93390	9.836000	0.81892	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	16.951	0.86117	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2246.98	33	chr13	44573919	.	G	A	2246.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.320;DP=965;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.99;ReadPosRankSum=0.865;SOR=0.739	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1142	20	0	1	0
chr13	44574358	44574358	C	T	exonic	TSC22D1	.	nonsynonymous SNV	TSC22D1:NM_183422:exon1:c.G1717A:p.A573T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.0	B	0.002	B	0.005	N	1.000	D	0.345	N	1.53	T	-1.093	T	0.041	T	0.13	1.071	9.373	3.64	1.241	1.088	9.105	0.013	0.00398447551839	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325864268	7.524e-06	7.524e-06	6.806e-06	8.25e-06	0.0001	4.04e-06	2.95e-06	6.246e-05	4.757e-05	0	0	0	0	0	0	0	1.656e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.24090	T	0.265	0.22694	T	0.0	0.02946	B	0.002	0.06944	B	0.005027	0.33162	N	0.212146	1	0.81001	D	0.55	0.14455	N	1.53	0.30401	T	-1.22	0.30964	N	0.099	0.08088	-1.0930	0.05051	T	0.041	0.17657	T	10	0.05192414	0.05146	T	0.003984	0.09431	T	0.013	0.01715	0.237	0.16760	0.0675242888579	0.06100	0.2843728531817961	0.28350	0.0708164839614	0.07938	0.431607067585	0.29428	T	0.088547	0.38182	T	-0.327729	0.06285	T	-0.611683	0.11849	T	0.106761989201408	0.13085	T	0.690631	0.30012	T	0.02877343	0.02268	0.052982874	0.08836	0.02877343	0.02267	0.052982874	0.08836	-3.44	0.15600	T	.	.	0.076	0.05756	B	.	.	1.960090	0.24899	16.57	0.96558885531505767	0.30251	0.21095	0.21279	N	ALL	0.085936	0.17421	N	-0.53899498367648	0.20829	1.101029	-0.41094992853938	0.24676	1.352594	0.999999999901876	0.74766	0.716459	0.82106	0	0.958517	0.99986	0	0.73237	0.93354	0	0.723	0.93126	0	.	.	4.49	3.64	0.40864	1.180000	0.31614	1.825000	0.29070	-0.314000	0.05961	0.064000	0.21895	0.945000	0.28875	0.471000	0.28363	0.0:0.8186:0.0:0.1814	9.105	0.35853	922	0.19044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1982.98	33	chr13	44574358	.	C	T	1982.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.682e+00;DP=1095;ExcessHet=0.0000;FS=0.638;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.58;ReadPosRankSum=-7.010e-01;SOR=0.793	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1142	20	0	1	0
chr13	44965897	44965897	C	G	exonic	NUFIP1	.	nonsynonymous SNV	NUFIP1:NM_012345:exon6:c.G774C:p.K258N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.971	D	0.825	P	0.910	N	0.739	N	2.18	M	0.83	T	-0.884	T	0.220	T	0.154	2.402	13.99	3.16	0.775	0.044	7.319	0.157	0.00928738655635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0043	0.0006	0.0006	0.0007	0.0006	0.0006	0.0006	0.0006	0.0006	7.169e-05	0.0003	0.0003	0.0002	0.0004	0.0007	0.0007	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.359	0.17014	T	0.971	0.57185	D	0.825	0.59331	P	0.910049	0.07409	N	1.036210	0.738816	0.29756	N	2.25	0.63811	M	0.83	0.47815	T	-2.17	0.49018	N	0.299	0.33796	-0.8840	0.49440	T	0.220	0.58306	T	10	0.24265513	0.41465	T	0.009287	0.24389	T	0.157	0.40909	0.474	0.55020	0.818736002665	0.81702	0.4195385722957138	0.41869	0.292299643335	0.31640	0.676025271416	0.63699	T	0.177767	0.52817	T	-0.182115	0.23422	T	-0.499372	0.22412	T	0.931297183036804	0.59657	D	0.823718	0.48487	T	0.077003986	0.17449	0.085702814	0.19806	0.077003986	0.17449	0.085702814	0.19805	-6.791	0.52492	T	.	.	0.387	0.58814	A	.	.	2.668832	0.34787	19.72	0.99757066602325661	0.84772	0.28433	0.23553	N	AEFGBI	0.095724	0.19336	N	0.133333906900528	0.48022	3.020043	0.0518211482771647	0.42159	2.545258	0.975820955919572	0.29668	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.89	3.16	0.35406	0.142000	0.15917	0.534000	0.19274	0.599000	0.40250	0.161000	0.23811	0.997000	0.33255	0.999000	0.91618	0.0:0.8028:0.0:0.1972	7.319	0.25689	832	0.38914	Nuclear fragile X mental retardation-interacting protein 1, conserved domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09375	275.26	20	chr13	44965897	.	C	G	275.26	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-8.290e-01;DP=490;ExcessHet=0.3300;FS=224.614;InbreedingCoeff=-0.1660;MLEAC=4;MLEAF=0.125;MQ=60.00;MQRankSum=0.00;QD=1.76;ReadPosRankSum=0.00;SOR=7.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:19,0:19:10:.:.:0,10,409	13	0	3	5
chr13	45549921	45549921	T	C	exonic	ERICH6B	.	nonsynonymous SNV	ERICH6B:NM_182542:exon13:c.A1618G:p.T540A,	.	.	428	1079	15	0	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	0.997	N	1.59	L	2.83	T	-1.087	T	0.049	T	0.458	4.019	20.6	5.69	2.169	4.253	12.338	0.156	.	0.0031	0.00159744	0.0054	0.0005	0	0	0	0.0120	0	0.0015	0.0014942	231	154602	rs138019495	0.0046	0.0044	0.0046	0.0045	0.0137	0.0045	0.0044	0.0112	0.0103	0.0007	0.0050	0.0338	0	0.0003	0.0137	0.0044	0.0060	0.0018	0.0032	0.0032	0.0035	0.0029	0.0041	0.0030	0.0029	0.0037	0.0036	0.0007	0	0.0036	0.0288	0	0	0.0102	0.0041	0.0071	0.0010	0.026	0.46910	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.997368	0.22689	N	2.365	0.68172	M	2.83	0.10771	T	-2.79	0.59059	D	0.616	0.63204	-1.0875	0.05960	T	0.049	0.21026	T	9	0.008849382	0.00200	T	.	.	.	0.156	0.40720	.	.	0.238705975628	0.23479	0.44365976478026536	0.44283	.	.	0.385409414768	0.23020	T	0.021439	0.16695	T	-0.456514	0.01033	T	-0.427023	0.30274	T	0.030507663835992	0.02067	T	0.439356	0.12115	T	0.22631073	0.45309	0.246806	0.50198	0.22631073	0.45309	0.246806	0.50197	-7.945	0.60694	D	.	.	0.201	0.42506	B	.	.	3.981063	0.58523	24.0	0.99785391619804342	0.87131	0.95332	0.64308	D	AEFBI	0.475758	0.51946	N	0.642509673075055	0.75883	6.385696	0.643250272920954	0.78111	6.810606	0.981287287864448	0.30242	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.69	5.69	0.88346	2.942000	0.48711	7.882000	0.72565	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:0.0:1.0	12.338	0.54406	704	0.57414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	928.98	33	chr13	45549921	.	T	C	928.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.814;DP=787;ExcessHet=0.0000;FS=1.834;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.91;ReadPosRankSum=-5.000e-02;SOR=0.927	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,114,1710	20	0	1	0
chr13	45713422	45713422	G	C	exonic	CBY2	.	nonsynonymous SNV	CBY2:NM_001286341:exon2:c.G316C:p.G106R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	1.83	L	-0.18	T	-0.131	T	0.434	T	0.93	4.269	22.3	4.97	2.584	6.563	15.091	0.715	0.155555222468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.016	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000028	0.55875	D	0.000000	0.999663	0.48141	D	2.815	0.81989	M	-0.18	0.66834	T	-7.19	0.96495	D	0.857	0.85343	-0.1312	0.79373	T	0.434	0.77452	T	10	0.89705896	0.89061	D	0.155555	0.83648	D	0.715	0.89877	0.749	0.87988	0.890138138783	0.88905	0.707602668639193	0.70702	1.2086047739	0.80767	0.788824617863	0.80264	T	0.375487	0.73908	T	0.331138	0.85238	D	0.237881	0.85044	D	0.998599708080292	0.94592	D	0.864814	0.66280	D	0.8277571	0.85747	0.86444056	0.92483	0.8277571	0.85748	0.86444056	0.92484	-7.022	0.54194	T	.	.	0.936	0.87270	P	.;.;.;.	.;.;.;.	4.983196	0.82561	27.8	0.99916098026899014	0.98379	0.98434	0.82737	D	AEFDBI	0.741261	0.68525	D	0.739339544166068	0.82208	7.70647	0.717313887008357	0.83694	8.08933	0.999987675483847	0.51787	0.497415	0.19182	0	0.547309	0.14657	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	4.97	4.97	0.65419	5.269000	0.65354	9.670000	0.81217	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	15.091	0.71858	718	0.55760	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1339.98	34	chr13	45713422	.	G	C	1339.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.600e-01;DP=908;ExcessHet=0.0000;FS=1.526;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=-4.070e-01;SOR=0.544	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr13	45713860	45713860	G	A	exonic	CBY2	.	nonsynonymous SNV	CBY2:NM_001286341:exon2:c.G754A:p.E252K	.	.	425	1085	12	0	0	12	0.00549954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.986	D	0.555	P	0.026	N	0.962	D	0.895	L	0.83	T	-0.815	T	0.128	T	0.295	3.030	16.11	4.98	2.583	1.364	15.093	0.072	.	.	0.0161741	0.0348	0	0.0047	0.008	0	0.0006	0.0192	0.0706	0.0047089	728	154602	rs112104044	0.0034	0.0034	0.0020	0.0049	0.0548	0.0033	0.0033	0.0535	0.0529	0.0009	6.105e-05	0	0.0003	0	0.0043	0.0001	0.0045	0.0548	0.0020	0.0020	0.0012	0.0029	0.0598	0.0018	0.0018	0.0541	0.0519	0.0002	0	0.0003	0	0	0	0	5.884e-05	0.0009	0.0598	0.024	0.47745	D	0.024	0.56640	D	0.986	0.61523	D	0.555	0.49371	P	0.025611	0.26059	N	0.325437	0.96201	0.38267	D	2.38	0.68558	M	0.83	0.49642	T	-1.52	0.36980	N	0.252	0.28498	-0.8147	0.54263	T	0.128	0.43625	T	10	0.0029319823	0.00047	T	.	.	.	0.072	0.21020	0.355	0.35571	.	.	0.25960505554505436	0.25874	0.939128243168	0.72154	0.39655315876	0.24589	T	0.069745	0.33786	T	-0.495082	0.00609	T	-0.44067	0.28733	T	0.0279785515396197	0.01686	T	0.727827	0.34232	T	0.12697403	0.29725	0.12216063	0.29468	0.12697403	0.29725	0.12216063	0.29468	-4.632	0.32646	T	.	.	0.084	0.10545	B	.;.;.	.;.;.	3.083105	0.41486	21.4	0.99838769866391386	0.91972	0.59812	0.31019	D	AEFDBI	0.162202	0.28835	N	0.122708721045619	0.47523	2.976889	0.0900300972591418	0.44046	2.693968	0.999998647468897	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.98	4.98	0.65679	2.395000	0.44113	8.102000	0.76560	0.674000	0.70861	0.304000	0.25361	1.000000	0.68203	0.004000	0.06068	0.0:0.0:1.0:0.0	15.093	0.71881	717	0.55835	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1162.98	34	chr13	45713860	.	G	A	1162.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.520;DP=806;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.18;ReadPosRankSum=-4.230e-01;SOR=0.743	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr13	46082502	46082502	T	C	exonic	CPB2	.	nonsynonymous SNV	CPB2:NM_001278541:exon4:c.A323G:p.N108S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.977	D	0.58	P	0.000	D	0.987	D	1.67	L	1.6	T	-1.058	T	0.089	T	0.105	1.029	9.202	5.65	2.150	6.043	13.825	0.160	0.0127547941444	.	0.000199681	8.238e-06	0	0	0	0	0	0.0011	0	1.29e-05	2	154602	rs201278346	1.368e-06	1.368e-06	1.362e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.994e-07	0	0	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	0.832	0.07473	T	0.589	0.08870	T	0.966	0.56202	D	0.14	0.33554	B	0.000000	0.84330	D	0.087436	0.987354	0.40577	D	2.16	0.60381	M	1.6	0.28604	T	-1.68	0.45222	N	0.476	0.51940	-1.0578	0.12311	T	0.089	0.34188	T	10	0.20324573	0.36473	T	0.012755	0.31594	T	0.160	0.41473	.	.	0.402899589544	0.39908	0.5435022571964878	0.54276	0.551534003631	0.51990	0.390689313412	0.23767	T	0.23524	0.60245	T	-0.244088	0.14831	T	-0.588392	0.13805	T	0.336030331429386	0.26466	T	0.770023	0.39993	T	0.48015812	0.65910	0.29679233	0.55713	0.48015812	0.65910	0.29679233	0.55712	-4.005	0.23878	T	.	.	0.082	0.08657	B	.;.;.	.;.;.	2.276663	0.29103	18.02	0.91363603991018638	0.20628	0.90407	0.51558	D	AEFDGBI	0.788159	0.71773	D	0.0442522169413464	0.43878	2.67228	0.0173002234650802	0.40519	2.419419	0.995086604411265	0.33945	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.65	5.65	0.86881	6.395000	0.73157	6.069000	0.53240	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.026000	0.12556	0.0:0.0:0.0:1.0	13.825	0.62836	599	0.68140	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1059.98	41	chr13	46082502	.	T	C	1059.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.708;DP=789;ExcessHet=0.0000;FS=0.801;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=-8.910e-01;SOR=0.871	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1146	20	0	1	0
chr13	46553473	46553473	-	CCA	exonic	LRCH1	.	nonframeshift insertion	LRCH1:NM_001164211:exon1:c.77_78insCCA:p.H33_Q34insH	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0029	0.00439297	0.0011	0.0065	0.0072	0.0062	0	0	0	0	0.0011526	30	26028	rs533543595	0.0005	0.0005	0.0005	0.0004	0.0115	0.0004	0.0004	0.0105	0.0102	0.0115	0.0008	0	0.0029	0	0.0005	7.703e-05	0.0012	5.055e-05	0.0032	0.0033	0.0032	0.0032	0.0104	0.0030	0.0029	0.0096	0.0093	0.0104	0	0.0017	0	0.0027	0	0	0.0001	0.0043	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1097.94	34	chr13	46553473	.	C	CCCA	1097.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.910e-01;DP=768;ExcessHet=0.0000;FS=2.605;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.41;ReadPosRankSum=1.93;SOR=0.358	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,116,1649	20	0	1	0
chr13	46895722	46895722	G	T	exonic	HTR2A	.	stopgain	HTR2A:NM_000621:exon2:c.C185A:p.S62X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	.	.	.	.	0.136	N	1.000	A	.	.	.	.	.	.	.	.	.	7.138	38	5.7	2.688	2.968	15.347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136357	0.18449	N	0.494436	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.893	0.89242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.518762	0.94859	D	0.507389	0.94782	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.	High;High;.	8.848748	0.98108	38	0.99510317709855978	0.68558	0.87896	0.47596	D	AEFBI	0.048264	0.08217	N	0.79143061957133	0.85567	8.614413	0.652908153675004	0.78827	6.955367	0.99999678137226	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.7	5.7	0.88690	3.209000	0.50824	9.906000	0.82388	0.676000	0.76740	0.790000	0.29595	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	15.347	0.74059	917	0.20147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	43.98	36	chr13	46895722	.	G	T	43.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.205e+00;DP=974;ExcessHet=0.0000;FS=66.931;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.24;ReadPosRankSum=0.600;SOR=6.272	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1251	20	0	1	0
chr13	48381322	48381322	C	G	exonic	RB1	.	nonsynonymous SNV	RB1:NM_000321:exon17:c.C1574G:p.A525G,	Bladder cancer, somatic;Osteosarcoma, somatic;Retinoblastoma, Autosomal dominant, Somatic mutation;Retinoblastoma, trilateral, Autosomal dominant, Somatic mutation;Small cell cancer of the lung, somatic	YES	12	1508	2	0	0	2	0.000662691	.	.	138857	Hereditary_cancer-predisposing_syndrome|not_specified|Retinoblastoma|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|Human_Phenotype_Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:790|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.997	D	0.971	D	0.000	D	1.000	D	2.66	M	-2.45	D	0.542	D	0.712	D	0.483	4.152	21.5	5.17	2.379	7.484	18.647	0.764	.	0.0065	0.0061901	0.0020	0.0206	0.0020	0	0	4.787e-05	0.0023	6.299e-05	0.0017723	274	154602	rs4151539	0.0006	0.0006	0.0007	0.0006	0.0204	0.0006	0.0006	0.0191	0.0186	0.0204	0.0016	0	0	1.873e-05	0.0012	6.03e-05	0.0012	3.498e-05	0.0058	0.0058	0.0063	0.0052	0.0202	0.0054	0.0053	0.0190	0.0186	0.0202	0	0.0018	0	0	0	0	5.885e-05	0.0043	0	0.099	0.30656	T	0.028	0.54934	D	0.997	0.70673	D	0.971	0.72444	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.61	0.76335	M	-2.45	0.88847	D	-2.53	0.54864	D	0.898	0.89800	0.542	0.91134	D	0.712	0.90104	D	10	0.011211336	0.00246	T	.	.	.	0.764	0.92004	.	.	0.800405226504	0.79854	0.5062571587001278	0.50547	0.898526649263	0.70557	0.634139716625	0.57732	T	0.90212	0.98088	D	-0.184341	0.23093	T	-0.0219741	0.68899	D	0.0252928780566929	0.01311	T	0.935406	0.75832	D	0.7355265	0.80037	0.52179956	0.72372	0.7200427	0.79165	0.50820416	0.71578	-10.319	0.75799	D	0.4813072409266307	0.55991	0.219	0.49616	B	.;.	.;.	5.071974	0.84603	28.4	0.99754122190569616	0.84537	0.98323	0.81627	D	AEFBI	0.902857	0.85124	D	0.851995402694053	0.89221	9.883605	0.806061046656115	0.90211	10.30547	0.999999999673408	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.17	5.17	0.70848	7.565000	0.81337	5.980000	0.52153	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	18.647	0.91372	880	0.29376	Retinoblastoma-associated protein, A-box|Retinoblastoma-associated protein, A-box;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	588.98	40	chr13	48381322	.	C	G	588.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.179e+00;DP=755;ExcessHet=0.0000;FS=2.340;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=-1.270e-01;SOR=0.568	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr13	48459808	48459808	T	C	exonic	RB1	.	nonsynonymous SNV	RB1:NM_000321:exon20:c.T2081C:p.L694P,	Bladder cancer, somatic;Osteosarcoma, somatic;Retinoblastoma, Autosomal dominant, Somatic mutation;Retinoblastoma, trilateral, Autosomal dominant, Somatic mutation;Small cell cancer of the lung, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.42	M	-3.77	D	1.097	D	0.943	D	0.995	4.463	23.8	5.48	2.086	7.698	15.564	0.976	0.602785562062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	5.093e-05	2.774e-06	0	1.836e-06	2.3e-07	9e-08	3.1e-07	1.1e-07	0	0	0	0	0	0	1.836e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	1	0.81001	D	3.345	0.91022	M	-3.77	0.95595	D	-6.07	0.89871	D	0.984	0.99337	1.097	0.99525	D	0.943	0.98136	D	10	0.9566928	0.95037	D	0.602786	0.96508	D	0.976	0.99783	0.78	0.90465	0.995699770876	0.99565	0.980477162488264	0.98038	1.68776258327	0.90085	0.897795319557	0.96192	D	0.975174	0.99754	D	0.560843	0.96253	D	0.567835	0.96194	D	0.999335587024689	0.97004	D	0.909909	0.68110	D	0.9948388	0.99958	0.97334516	0.99602	0.9948388	0.99958	0.97334516	0.99602	-13.406	0.90966	D	0.9398642061341252	0.97687	0.998	0.97486	P	.;.	.;.	5.226627	0.87722	29.3	0.99926600234762908	0.99103	0.97876	0.77794	D	AEFBI	0.964519	0.98666	D	0.915122981473785	0.92480	11.44748	0.844938188139194	0.92718	11.58983	0.999996381698106	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.674000	0.83146	7.932000	0.75071	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.564	0.76018	726	0.54788	Retinoblastoma-associated protein, B-box|Cyclin-like|Cyclin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.2619	1269.87	115	chr13	48459808	.	T	C	1269.87	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-3.482e+00;DP=2175;ExcessHet=7.7275;FS=135.304;InbreedingCoeff=-0.3657;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=0.91;ReadPosRankSum=0.896;SOR=12.258	GT:AD:DP:GQ:PL	0/1:80,37:117:99:132,0,1253	10	0	11	0
chr13	49207295	49207295	G	A	exonic	FNDC3A	.	nonsynonymous SNV	FNDC3A:NM_014923:exon24:c.G3329A:p.R1110Q	.	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.38	B	0.049	B	0.002	N	1.000	D	2.005	M	1.32	T	-1.035	T	0.099	T	0.281	1.929	12.41	5.38	2.515	3.268	18.122	0.050	0.00821067554988	.	0.000399361	0.0004	9.658e-05	0	0	0	0.0001	0	0.0022	0.0003363	52	154602	rs200658303	0.0002	0.0002	0.0001	0.0003	0.0026	0.0002	0.0002	0.0024	0.0022	0	0.0003	7.653e-05	0.0001	1.872e-05	0.0002	7.015e-05	0.0001	0.0026	0.0001	0.0001	5.138e-05	0.0002	0.0031	9.736e-05	8.251e-05	0.0019	0.0015	0	0	6.532e-05	0	0	0	0	8.82e-05	0	0.0031	0.563	0.06461	T	0.664	0.06427	T	0.133	0.34363	B	0.015	0.25116	B	0.001785	0.37998	N	0.111853	0.999938	0.52935	D	0.965	0.23975	L	1.32	0.35219	T	-0.37	0.13226	N	0.068	0.04188	-1.0352	0.18794	T	0.099	0.36957	T	10	0.0071049333	0.00162	T	0.008211	0.21750	T	0.050	0.13987	.	.	0.231005064126	0.22704	0.22808195957854355	0.22723	0.249917041605	0.27571	0.331790834665	0.15205	T	0.176695	0.52673	T	-0.475452	0.00787	T	-0.462206	0.26359	T	0.0136885986070171	0.00256	T	0.829117	0.49388	T	0.034543343	0.03897	0.052246932	0.08571	0.034543343	0.03897	0.052246932	0.08571	-3.562	0.17310	T	.	.	0.118	0.24363	B	.;.;.	.;.;.	3.107161	0.41893	21.4	0.98589623089235812	0.43349	0.93964	0.59705	D	AEFBI	0.514319	0.54174	D	0.0474726208729883	0.44027	2.684265	0.156674292151912	0.47497	2.979005	0.999995717217899	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.38	5.38	0.77279	3.356000	0.51987	6.734000	0.56465	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.0:1.0:0.0	18.122	0.89503	660	0.61921	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3798.08	33	chr13	49207295	.	G	A	3798.08	.	AC=2;AF=0.048;AN=42;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.61;SOR=2.045	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	1	0	0
chr13	49220340	49220340	G	A	exonic	MLNR	.	startloss	MLNR:NM_001507:exon1:c.G3A:p.M1?,	.	.	433	1058	29	2	0	33	0.015356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.963	D	0.549	P	0.001	U	1.000	D	.	.	-0.36	T	-0.323	T	0.335	T	0.827	2.899	15.66	4.34	1.960	1.434	13.991	0.420	.	.	0.00479233	0	0	.	0	.	0	0	0	0.0006404	99	154602	rs372763744	0.0062	0.0056	0.0058	0.0066	0.0177	0.0060	0.0060	0.0168	0.0164	0.0007	0.0085	0.0036	0.0001	0.0089	0.0117	0.0057	0.0070	0.0177	0.0048	0.0048	0.0052	0.0045	0.0156	0.0045	0.0044	0.0128	0.0117	0.0008	0	0.0064	0.0035	0	0.0068	0.0276	0.0062	0.0071	0.0156	0.02	0.49613	D	0.148	0.32675	T	0.963	0.55692	D	0.549	0.49194	P	0.000765	0.41888	U	0.104565	0.999962	0.52935	D	.	.	.	-0.36	0.68754	T	-1.02	0.26843	N	0.783	0.77978	-0.3234	0.74327	T	0.335	0.70182	T	9	0.015151739	0.00318	T	.	.	.	0.420	0.72930	0.977	0.99785	0.847761603604	0.84629	0.4019045423288962	0.40106	.	.	.	.	.	0.026416	0.19553	T	-0.167037	0.25684	T	0.00354358	0.70565	D	0.0671573362189728	0.08246	T	0.9	0.65058	D	0.61442816	0.73465	0.45621848	0.68392	0.61442816	0.73466	0.45621848	0.68392	-9.405	0.70266	D	.	.	.	.	.	.	.	2.523876	0.32617	19.10	0.98712100844934947	0.45069	0.76434	0.37486	D	AEFDBHCIJ	0.017900	0.00502	N	0.176614935791642	0.50078	3.201316	0.135532556535436	0.46379	2.884915	1.0	0.98316	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.34	4.34	0.51267	0.962000	0.28877	6.214000	0.55048	0.582000	0.30178	0.817000	0.29947	1.000000	0.68203	0.028000	0.12845	0.0:0.0:1.0:0.0	13.991	0.63881	660	0.61921	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	501.11	23	chr13	49220340	.	G	A	501.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.413e+00;DP=524;ExcessHet=0.1072;FS=4.874;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.92;ReadPosRankSum=1.12;SOR=0.145	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,1134	19	0	2	0
chr13	49630893	49630893	G	A	exonic	ARL11	.	stopgain	ARL11:NM_138450:exon2:c.G446A:p.W149X,	.	.	416	1056	49	1	0	51	0.0235784	.	.	702719	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	4.810	27.2	5.32	2.490	3.559	17.994	.	.	0.0080	0.00579073	0.0099	0.0011	0.0073	0	0.0068	0.0133	0.0165	0.0100	0.0096894	1498	154602	rs34301344	0.0097	0.0097	0.0095	0.0098	0.0225	0.0095	0.0095	0.0193	0.0181	0.0017	0.0078	0.0214	0	0.0062	0.0225	0.0101	0.0097	0.0107	0.0080	0.0080	0.0080	0.0079	0.0112	0.0076	0.0074	0.0106	0.0103	0.0016	0.0329	0.0097	0.0187	0.0004	0.0063	0.0238	0.0112	0.0104	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.259	0.29313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275648	0.80940	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.128608	0.98504	39	0.99204731995395834	0.55381	0.95789	0.66160	D	AEFDBI	0.082690	0.16746	N	0.707159327269664	0.80103	7.220512	0.539516920279059	0.70672	5.53964	0.999999996113154	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.550183	0.17644	0	.	.	5.32	5.32	0.75377	3.180000	0.50595	11.047000	0.85249	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.527000	0.29637	0.0:0.0:1.0:0.0	17.994	0.89101	414	0.81871	.	.	.	.	.	rs34301344	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	5609.68	38	chr13	49630893	.	G	A	5609.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.798;DP=1082;ExcessHet=0.3300;FS=2.490;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=-8.600e-02;SOR=0.874	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1288	18	0	3	0
chr13	49631029	49631029	G	C	exonic	ARL11	.	nonsynonymous SNV	ARL11:NM_138450:exon2:c.G582C:p.K194N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.001	B	0.002	B	.	.	1.000	N	0.69	N	0.13	T	-1.028	T	0.042	T	0.042	2.048	12.80	0.84	0.195	0.717	5.811	0.037	.	0.0071	0.00758786	0.0028	0.0339	0.0008	0	0	5.1e-05	0.0031	0	0.00163	252	154602	rs35835937	0.0008	0.0008	0.0009	0.0007	0.0286	0.0008	0.0007	0.0271	0.0265	0.0286	0.0012	0	0	0	0.0018	4.664e-05	0.0017	1.211e-05	0.0070	0.0070	0.0072	0.0067	0.0239	0.0066	0.0065	0.0227	0.0222	0.0239	0	0.0031	0	0	0	0	0.0001	0.0043	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	0.13	0.60973	T	-0.45	0.14782	N	0.085	0.06190	-1.0284	0.20973	T	0.042	0.17869	T	9	0.003173083	0.00053	T	.	.	.	0.037	0.09474	0.433	0.48336	0.613844073566	0.61072	0.3010764018919969	0.30020	0.187488044721	0.21068	0.334661513567	0.15637	T	0.002578	0.01964	T	-0.574721	0.00207	T	-0.5794	0.14597	T	0.0187874802097922	0.00590	T	0.40416	0.10358	T	0.07780178	0.17681	0.09754969	0.23223	0.07780178	0.17681	0.09754969	0.23222	-4.003	0.23849	T	.	.	0.178	0.38764	B	.	.	1.268184	0.16667	12.69	0.98344443740136367	0.40477	0.05953	0.11911	N	AEFBI	0.092133	0.18656	N	-0.914705554800062	0.10497	0.5019233	-0.942915932436129	0.11088	0.5627384	0.999613358404074	0.40981	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.631631	0.49550	0	.	.	4.85	0.84	0.18047	0.564000	0.23265	2.924000	0.35580	0.676000	0.76740	0.007000	0.17678	0.225000	0.23742	0.044000	0.14658	0.1723:0.2988:0.5288:0.0	5.811	0.17730	414	0.81871	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	542.98	38	chr13	49631029	.	G	C	542.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.390e-01;DP=776;ExcessHet=0.0000;FS=2.797;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.80;ReadPosRankSum=2.56;SOR=0.320	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1288	20	0	1	0
chr13	49921505	49921505	G	A	exonic	SPRYD7	.	stopgain	SPRYD7:NM_001127482:exon3:c.C349T:p.R117X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	5.456	35	4.49	2.515	4.031	13.585	.	.	.	.	8.26e-06	0	0	0	0	1.503e-05	0	0	6.5e-06	1	154602	rs759991926	8.218e-06	8.893e-06	1.09e-05	5.506e-06	8.104e-06	4.38e-06	3.46e-06	3.81e-06	2.76e-06	0	0	3.829e-05	0	0	0	8.104e-06	3.314e-05	0	6.577e-06	6.569e-06	0	1.347e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.497	0.53006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.509833	0.94568	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Dominant;.;.	High;.;.	9.208126	0.98617	40	0.9970946640890439	0.81213	0.94228	0.60504	D	AEFBI	0.120652	0.23493	N	0.841191023655861	0.88600	9.639905	0.713854648813887	0.83429	8.019666	0.127760973711853	0.17026	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.39	4.49	0.54177	4.121000	0.57654	6.185000	0.54687	0.669000	0.69127	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.7143:0.2857	13.585	0.61393	683	0.59664	SPRY domain|B30.2/SPRY domain|SPRY domain;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1362.98	33	chr13	49921505	.	G	A	1362.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.340e+00;DP=863;ExcessHet=0.0000;FS=1.369;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.17;ReadPosRankSum=-5.590e-01;SOR=0.536	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr13	50015581	50015581	C	T	exonic	KCNRG	.	nonsynonymous SNV	KCNRG:NM_173605:exon1:c.C88T:p.R30C	.	.	431	1089	2	0	0	2	0.000917431	.	.	3265025	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.982	D	0.001	N	1.000	D	2.585	M	0.82	T	-0.765	T	0.249	T	0.836	1.578	11.23	1.02	-0.132	0.549	5.548	0.347	0.0449969296184	.	.	6.591e-05	0	0.0002	0.0003	0	2.997e-05	0.0011	0	5.17e-05	8	154602	rs758273779	2.394e-05	2.394e-05	2.314e-05	2.475e-05	0.0002	1.739e-05	1.539e-05	0.0001	0.0001	0	0.0002	0	2.519e-05	0	0.0002	1.889e-05	0	1.159e-05	3.287e-05	3.284e-05	3.856e-05	2.691e-05	6.546e-05	1.261e-05	7.98e-06	1.972e-05	1.125e-05	0	0	6.546e-05	0	0	0	0	5.881e-05	0	0	0.037	0.43085	D	0.04	0.53072	D	1.0	0.90584	D	0.982	0.75477	D	0.001022	0.40562	N	0.161007	0.995113	0.81001	D	2.93	0.84523	M	0.82	0.48142	T	-2.04	0.52451	N	0.647	0.65844	-0.7653	0.57115	T	0.249	0.61809	T	10	0.6756675	0.70976	D	0.044997	0.61764	D	0.347	0.66863	.	.	0.732431101164	0.73004	0.5105274050058206	0.50974	0.273349000782	0.29833	0.329230248928	0.14818	T	0.554084	0.84954	D	-0.0738092	0.40718	T	-0.0744985	0.65303	T	0.8477383852005	0.49971	D	0.90021	0.65919	D	0.07639404	0.17274	0.06478362	0.13036	0.07639404	0.17274	0.06478362	0.13036	-7.082	0.54631	T	.	.	0.215	0.52035	B	.;.	.;.	2.005598	0.25481	16.78	0.99368677884075074	0.61326	0.60945	0.31341	D	AEFDGBIJ	0.098571	0.19859	N	-0.11503098187237	0.36739	2.12761	-0.303993083626246	0.27970	1.555884	0.999981242942486	0.51787	0.50712	0.20391	0	0.379588	0.06130	0	0.658105	0.52812	0	0.692231	0.68500	0	.	.	5.84	1.02	0.19102	0.564000	0.23265	-0.975000	0.06732	-0.184000	0.09925	0.993000	0.37899	0.000000	0.08366	0.133000	0.19684	0.4883:0.3033:0.0:0.2084	5.548	0.16362	618	0.66225	.;Potassium channel tetramerisation-type BTB domain|BTB/POZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2110.98	35	chr13	50015581	.	C	T	2110.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=829;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.87;ReadPosRankSum=-6.880e-01;SOR=0.727	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1204	20	0	1	0
chr13	50956394	50956394	G	T	exonic	RNASEH2B	.	nonsynonymous SNV	RNASEH2B:NM_024570:exon11:c.G859T:p.A287S,	Aicardi-Goutieres syndrome 2, Autosomal recessive	.	2	1507	12	1	0	14	0.00462351	.	.	336834	not_provided|not_specified|Aicardi-Goutieres_syndrome_2	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012429,MedGen:C3489724,OMIM:610181,Orphanet:51	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.46	T	0.964	D	0.721	P	0.000	D	1.000	D	2.26	M	-4.03	D	0.578	D	0.815	D	0.653	3.928	19.99	6.06	2.871	5.437	17.348	0.595	.	0.0005	0.00539137	0.0061	0.0002	0.0220	0.03	0.0028	0.0016	0.0051	0.0012	0.0033699	521	154602	rs144408326	0.0014	0.0015	0.0015	0.0014	0.0187	0.0014	0.0014	0.0176	0.0171	6.02e-05	0.0128	0.0002	0.0187	0.0011	0.0010	0.0005	0.0016	0.0015	0.0017	0.0017	0.0015	0.0019	0.0211	0.0015	0.0015	0.0179	0.0167	0.0002	0	0.0040	0.0003	0.0211	0.0009	0	0.0009	0.0014	0.0017	0.235	0.18000	T	0.188	0.28669	T	0.964	0.55854	D	0.721	0.54900	P	0.000001	0.84330	D	0.093709	1	0.81001	D	2.34	0.67151	M	-4.03	0.96434	D	-1.04	0.27259	N	0.216	0.24135	0.578	0.91604	D	0.815	0.93776	D	10	0.0097846985	0.00220	T	.	.	.	0.595	0.83911	.	.	0.962080051855	0.96167	0.34271406102215285	0.34184	0.162992072304	0.18394	0.599595010281	0.52847	T	0.531679	0.83805	D	-0.059135	0.43042	T	0.159	0.80757	D	0.0498612706866577	0.05476	T	0.845915	0.55914	T	0.16057646	0.36008	0.17651777	0.40191	0.14362751	0.33001	0.16627134	0.38420	-5.83	0.44835	T	0.2480232613248502	0.33582	0.185	0.41433	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.740820	0.76452	26.5	0.99518974557702922	0.69100	0.94926	0.62811	D	AEFBI	0.672524	0.63890	D	0.656918210197903	0.76816	6.556992	0.693034019698831	0.81851	7.624045	0.999999595076717	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.06	6.06	0.98340	5.464000	0.66451	11.907000	0.99503	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	17.348	0.87201	848	0.35897	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	510.98	33	chr13	50956394	.	G	T	510.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.389;DP=715;ExcessHet=0.0000;FS=4.193;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.02;ReadPosRankSum=-5.740e-01;SOR=1.426	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1060	20	0	1	0
chr13	51245330	51245330	G	A	exonic	FAM124A	.	nonsynonymous SNV	FAM124A:NM_145019:exon3:c.G119A:p.R40Q,	.	.	436	1082	4	0	0	4	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.893	P	0.417	B	.	.	1.000	N	.	.	0.84	T	-1.068	T	0.044	T	0.044	-1.389	0.024	-0.317	-1.029	-0.810	.	0.049	.	.	0.00319489	0.0012	0.0006	0	0.0177	0	0.0005	0.0072	0.0012	0.0003752	58	154602	rs117053935	0.0026	0.0023	0.0026	0.0026	0.0348	0.0025	0.0025	0.0331	0.0324	0.0006	0.0004	0	0.0348	0.0015	0.0013	0.0005	0.0010	0.0011	0.0012	0.0012	0.0009	0.0016	0.0176	0.0011	0.0010	0.0147	0.0136	0.0006	0	0.0003	0	0.0176	0.0030	0	0.0003	0.0019	0.0014	0.335	0.12920	T	0.513	0.10714	T	0.893	0.49136	P	0.417	0.44992	B	.	.	.	.	1	0.08975	N	.	.	.	0.84	0.47477	T	-0.03	0.07444	N	0.097	0.07811	-1.0676	0.09948	T	0.044	0.18783	T	7	0.0028281212	0.00045	T	.	.	.	0.049	0.13647	.	.	0.151104730317	0.14643	0.061584561877155046	0.06098	0.308893039441	0.33204	0.367179602385	0.20426	T	.	.	.	-0.372767	0.03456	T	-0.77323	0.02663	T	0.00598467733637003	0.00066	T	0.415058	0.10864	T	.	.	.	.	.	.	.	.	-3.893	0.22197	T	.	.	0.086	0.10787	B	.	.	0.221064	0.06035	2.476	0.50180699955543218	0.04339	0.00608	0.02703	N	AEFBHCI	0.021774	0.01009	N	-1.10680595485064	0.06521	0.3004152	-1.36826055010262	0.03595	0.1680227	0.999993366850315	0.74766	0.495158	0.18159	0	0.59043	0.45803	0	0.535252	0.11790	0	0.567892	0.33627	0	.	.	0.158	-0.317	0.12104	-0.809000	0.04617	-1.287000	0.05811	-0.698000	0.04070	0.010000	0.18352	0.003000	0.18671	0.007000	0.07825	.	.	.	890	0.26919	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	781.33	33	chr13	51245330	.	G	A	781.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.723;DP=723;ExcessHet=0.0000;FS=4.802;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=0.175;SOR=0.936	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1138	19	0	1	1
chr13	51251614	51251614	G	A	exonic	FAM124A	.	nonsynonymous SNV	FAM124A:NM_001242312:exon3:c.G247A:p.E83K	.	.	428	1092	0	2	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	2.415	M	0.38	T	-0.366	T	0.273	T	0.947	3.221	16.79	4.95	1.459	9.188	13.913	0.529	0.0878595344257	0.0021	0.000998403	0.0032	0	0.0001	0	0.0042	0.0051	0	0.0005	0.0021086	326	154602	rs146836694	0.0027	0.0026	0.0028	0.0026	0.0032	0.0026	0.0026	0.0031	0.0031	0.0004	0.0003	8.735e-05	0	0.0028	0.0002	0.0032	0.0024	0.0003	0.0018	0.0018	0.0021	0.0016	0.0033	0.0017	0.0016	0.0029	0.0028	0.0005	0	0.0005	0	0	0.0024	0	0.0033	0.0009	0.0004	0.003	0.72154	D	0.005	0.72224	D	1.0	0.90584	D	0.992	0.86255	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.905	0.84014	M	0.38	0.57575	T	-3.96	0.73579	D	0.876	0.92433	-0.3658	0.73089	T	0.273	0.64515	T	10	0.054037213	0.05690	T	0.08786	0.75019	D	0.529	0.80128	.	.	0.72265496238	0.72020	0.8910373508187279	0.89073	1.00761782121	0.74645	0.670258581638	0.62874	T	0.369067	0.73384	T	0.011616	0.53246	T	0.243389	0.85306	D	0.0662834907180883	0.08119	T	0.946005	0.79398	D	0.61937606	0.73730	0.49665838	0.70893	0.61937606	0.73731	0.49665838	0.70894	-9.737	0.76068	D	.	.	0.689	0.79878	P	.;.;.	.;.;.	4.636968	0.73778	26.0	0.99854902507314824	0.93368	0.98836	0.87495	D	AEFDBI	0.839187	0.75662	D	0.336986846120989	0.58057	3.975789	0.214966704079992	0.50677	3.257323	0.999999610404202	0.74766	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.528226	0.09195	0	.	.	5.79	4.95	0.64894	9.356000	0.96506	11.764000	0.95697	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.051000	0.15275	0.0727:0.0:0.9273:0.0	13.913	0.63385	901	0.24189	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	213.98	34	chr13	51251614	.	G	A	213.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.540e-01;DP=745;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.86;ReadPosRankSum=1.03;SOR=0.892	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1027	20	0	1	0
chr13	51251837	51251837	C	T	exonic	FAM124A	.	nonsynonymous SNV	FAM124A:NM_001242312:exon3:c.C470T:p.T157M	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	1.0	D	0.999	D	0.000	D	1.000	D	0.765	N	1.11	T	-0.984	T	0.169	T	0.772	3.065	16.23	5.79	2.735	5.761	19.015	0.212	0.0154834486804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.421	0.11120	T	0.91	0.30241	T	1.0	0.90584	D	0.998	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.885	0.21608	L	1.11	0.38883	T	-0.83	0.22727	N	0.439	0.55886	-0.9844	0.33975	T	0.169	0.50939	T	10	0.44073927	0.58085	T	0.015483	0.36235	T	0.212	0.50341	0.378	0.39319	0.751089042604	0.74883	0.4785160294703443	0.47771	0.965881282341	0.73180	0.695666670799	0.66519	T	0.003094	0.02494	T	0.0649467	0.60229	T	-0.144485	0.59727	T	0.953530251979828	0.64047	D	0.930507	0.74278	D	0.10195567	0.24087	0.13719377	0.32800	0.10195567	0.24087	0.13719377	0.32799	-8.506	0.64469	D	.	.	0.178	0.42806	B	.;.;.	.;.;.	4.880397	0.80035	27.2	0.99736902395873273	0.83192	0.96094	0.67505	D	AEFDBI	0.727722	0.67597	D	0.51998248635547	0.68271	5.194435	0.565525192402274	0.72485	5.817177	0.999999999996684	0.74766	0.631515	0.41029	0	0.547309	0.14657	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	5.79	5.79	0.91751	5.835000	0.69073	5.932000	0.51336	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.778000	0.36829	0.0:1.0:0.0:0.0	19.015	0.92866	899	0.25060	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	554.98	38	chr13	51251837	.	C	T	554.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=778;ExcessHet=0.0000;FS=6.267;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.56;ReadPosRankSum=-4.390e-01;SOR=1.641	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1027	20	0	1	0
chr13	51739117	51739117	G	A	exonic	WDFY2	.	nonsynonymous SNV	WDFY2:NM_052950:exon7:c.G667A:p.V223I,	.	.	421	1087	14	0	0	14	0.00639854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.011	B	0.01	B	0.000	D	1.000	D	1.07	L	0.42	T	-1.040	T	0.062	T	0.044	1.148	9.675	5.32	2.941	5.740	7.247	0.111	.	0.0052	0.00359425	0.0023	0.0150	0.0023	0	0	0.0009	0.0011	0.0017	0.0021539	333	154602	rs77486739	0.0012	0.0013	0.0012	0.0012	0.0143	0.0012	0.0012	0.0132	0.0128	0.0143	0.0024	0.0013	0	1.875e-05	0.0137	0.0007	0.0031	0.0016	0.0049	0.0049	0.0052	0.0047	0.0142	0.0046	0.0045	0.0133	0.0129	0.0142	0	0.0041	0.0012	0	0	0.0102	0.0010	0.0062	0.0015	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.049499	0.999829	0.49512	D	0.77	0.19370	N	0.42	0.56937	T	0.3	0.04091	N	0.099	0.08088	-1.0401	0.17283	T	0.062	0.25994	T	10	0.006444901	0.00146	T	.	.	.	0.111	0.31313	.	.	0.436780212511	0.43300	0.03989879060847398	0.03935	0.292032833551	0.31608	0.546645700932	0.45383	T	0.011824	0.10494	T	-0.547364	0.00303	T	-0.547351	0.17580	T	0.019515675990676	0.00655	T	0.818018	0.47523	T	0.0341658	0.03783	0.054201543	0.09276	0.0341658	0.03782	0.054201543	0.09275	-0.516	0.00593	T	.	.	0.059	0.00861	B	.	.	2.512268	0.32452	19.05	0.38941181998068136	0.02657	0.89001	0.49211	D	AEFBI	0.280583	0.39437	N	-0.0793378337852234	0.38299	2.241043	0.16210152155543	0.47785	3.003696	0.999999999245909	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	6.17	5.32	0.75377	5.889000	0.69508	8.565000	0.77582	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2059:0.0:0.7941:0.0	7.247	0.25302	906	0.23090	WD40 repeat, conserved site|WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1520.98	33	chr13	51739117	.	G	A	1520.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.210e-01;DP=859;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=1.29;SOR=0.648	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr13	51942395	51942395	C	T	exonic	ATP7B	.	nonsynonymous SNV	ATP7B:NM_001005918:exon11:c.G2782A:p.A928T	Wilson disease, Autosomal recessive	YES	0	1519	3	0	0	3	0.000986518	.	.	527795	not_provided|Wilson_disease	MedGen:C3661900|MONDO:MONDO:0010200,MedGen:C0019202,OMIM:277900,Orphanet:905	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.57	T	0.031	B	0.05	B	0.082	N	1.000	N	0	N	-3.83	D	0.156	D	0.605	D	0.081	0.297	5.611	-6.84	-1.514	-3.155	6.930	0.167	.	0.0003	0.00199681	0.0052	0	0	0	0.0534	0.0038	0.0178	6.056e-05	0.0040491	626	154602	rs187200982	0.0025	0.0025	0.0025	0.0025	0.0005	0.0024	0.0024	0.0005	0.0004	2.987e-05	0	3.826e-05	0.0002	0.0548	0.0002	0.0005	0.0029	0.0003	0.0047	0.0047	0.0027	0.0067	0.0014	0.0044	0.0043	0.0012	0.0011	2.407e-05	0	6.54e-05	0	0.0002	0.0573	0	0.0014	0.0024	0.0002	0.603	0.05790	T	0.602	0.07894	T	0.0	0.20130	B	0.001	0.25278	B	0.082095	0.02365	N	1.843910	1	0.08975	N	0.135	0.08676	N	-3.89	0.97242	D	0.19	0.10833	N	0.115	0.10911	0.156	0.85159	D	0.605	0.85979	D	10	0.0021025836	0.00030	T	.	.	.	0.167	0.42761	.	.	0.654553869521	0.65167	0.47490297824234395	0.47409	0.0575941359263	0.06381	0.227259367704	0.01772	T	0.518598	0.83122	D	-0.413832	0.01875	T	-0.365851	0.37374	T	0.0128227865966227	0.00218	T	0.446455	0.16784	T	0.025658986	0.01529	0.04060221	0.04426	0.021958072	0.00827	0.031772524	0.01813	-3.753	0.20104	T	0.07758475157762715	0.03649	0.066	0.02257	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-1.458612	0.00321	0.005	0.52879314227800156	0.04832	0.00604	0.02691	N	AEFDBI	0.040556	0.06048	N	-1.65924043187841	0.00997	0.04320475	-1.72038946912443	0.01050	0.04712847	0.998683987135627	0.37455	0.615465	0.37627	0	0.563428	0.19063	0	0.49644	0.08281	0	0.655142	0.61905	0	.	.	5.15	-6.84	0.01527	-2.972000	0.00732	-20.000000	0.00162	-0.855000	0.02678	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.097:0.1281:0.1048:0.6702	6.930	0.23617	459	0.78817	.;.;.;.;.;.;.	.	.	.	.	rs187200982	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1229.98	35	chr13	51942395	.	C	T	1229.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.976e+00;DP=826;ExcessHet=0.0000;FS=8.624;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.00;ReadPosRankSum=2.15;SOR=0.263	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1108	20	0	1	0
chr13	52029312	52029312	A	G	exonic	UTP14C	.	nonsynonymous SNV	UTP14C:NM_021645:exon2:c.A508G:p.I170V,	.	.	419	1102	1	0	0	1	0.000453515	.	.	237194	not_provided|ALG11-congenital_disorder_of_glycosylation	MedGen:C3661900|MONDO:MONDO:0013349,MedGen:C3150913,OMIM:613661,Orphanet:280071	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.42	T	0.243	B	0.207	B	0.004	N	1.000	N	1.66	L	2.36	T	-1.048	T	0.029	T	0.078	0.436	6.370	2.46	1.146	-0.024	8.414	0.027	0.00231305394395	0.0052	0.00199681	0.0035	0.0015	0.0029	0	0.0011	0.0053	0.0022	0.0006	0.0036416	563	154602	rs73184339	0.0062	0.0062	0.0063	0.0060	0.0075	0.0060	0.0060	0.0074	0.0073	0.0013	0.0030	3.826e-05	0	0.0009	0.0003	0.0075	0.0063	0.0006	0.0041	0.0041	0.0044	0.0037	0.0075	0.0038	0.0037	0.0069	0.0067	0.0014	0	0.0025	0	0	0.0005	0	0.0075	0.0062	0.0004	0.197	0.20607	T	0.892	0.03117	T	0.243	0.30970	B	0.207	0.37187	B	0.004174	0.34034	N	0.364353	1	0.81001	D	1.8	0.47472	L	2.36	0.16089	T	-0.17	0.09627	N	0.042	0.01498	-1.0477	0.15045	T	0.029	0.12365	T	10	0.007573843	0.00172	T	0.002313	0.04452	T	0.027	0.05988	.	.	0.227260227426	0.22338	0.07141856775567916	0.07078	0.0987967183459	0.11165	0.348253279924	0.17665	T	0.001144	0.00651	T	-0.639284	0.00084	T	-0.685373	0.06660	T	0.00159623552123552	0.00016	T	0.758824	0.38273	T	0.031221647	0.02922	0.04312845	0.05296	0.031221647	0.02922	0.04312845	0.05296	-4.341	0.28748	T	.	.	0.073	0.04477	B	.	.	0.760481	0.11303	7.925	0.93604480535229229	0.23463	0.06137	0.12116	N	AEFBCI	0.048714	0.08340	N	-0.579634771419989	0.19563	1.024909	-0.62269714747864	0.18911	1.012327	0.200236982395711	0.18114	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	2.46	2.46	0.29032	-0.171000	0.09872	2.359000	0.32360	0.652000	0.53365	0.002000	0.15269	0.088000	0.22492	0.923000	0.45890	1.0:0.0:0.0:0.0	8.414	0.31823	593	0.68665	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	2121.98	119	chr13	52029312	.	A	G	2121.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.742e+00;DP=1973;ExcessHet=0.0000;FS=2.096;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.63;ReadPosRankSum=0.480;SOR=0.765	GT:AD:DP:GQ:PL	0/0:110,0:110:99:0,120,1800	20	0	1	0
chr13	52065466	52065466	C	T	exonic	NEK5	.	nonsynonymous SNV	NEK5:NM_199289:exon22:c.G2068A:p.V690I,	.	.	431	1081	10	0	0	10	0.00460405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.002	B	0.0	B	0.355	N	1.000	N	0	N	-0.5	T	-1.016	T	0.117	T	0.112	0.939	8.826	-7.93	-1.502	-1.010	5.707	0.053	0.00346914844266	0.0014	0.00159744	0.0021	0.0008	0.0006	0.0001	0.0002	0.0019	0	0.0065	0.0018693	289	154602	rs145552435	0.0017	0.0017	0.0014	0.0019	0.0083	0.0016	0.0016	0.0064	0.0058	0.0003	0.0008	0.0124	0	0.0004	0.0083	0.0012	0.0020	0.0063	0.0013	0.0013	0.0012	0.0014	0.0043	0.0011	0.0011	0.0029	0.0024	0.0004	0.0022	0.0012	0.0130	0.0004	0.0003	0.0034	0.0012	0.0009	0.0043	0.541	0.06779	T	0.674	0.06225	T	0.002	0.09854	B	0.0	0.01387	B	0.355089	0.04269	N	1.461230	1	0.08975	N	-0.46	0.02758	N	-0.5	0.70480	T	-0.12	0.08809	N	0.034	0.05287	-1.0159	0.25045	T	0.117	0.41341	T	10	0.0037020147	0.00068	T	0.003469	0.07847	T	0.053	0.14996	.	.	0.137902524267	0.13322	0.05390014562318104	0.05332	0.0507363999243	0.05571	0.230242908001	0.01986	T	0.016767	0.13794	T	-0.570168	0.00221	T	-0.589171	0.13737	T	0.00110772140334273	0.00011	T	0.352865	0.07937	T	0.02334454	0.01067	0.027609421	0.00927	0.02334454	0.01066	0.027609421	0.00927	-3.863	0.21749	T	.	.	0.075	0.07177	B	.;.	.;.	0.161127	0.05518	1.979	0.59095593035385108	0.06144	0.00186	0.01083	N	AEFDBI	0.022003	0.01047	N	-1.69557033407798	0.00858	0.0371029	-1.78470499581117	0.00809	0.03612774	0.990018023766986	0.32009	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.97	-7.93	0.01023	-1.014000	0.03752	-1.537000	0.05219	-0.346000	0.05637	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1288:0.5851:0.1299:0.1562	5.707	0.17186	629	0.65079	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1668.98	37	chr13	52065466	.	C	T	1668.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.795;DP=868;ExcessHet=0.0000;FS=1.263;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.63;ReadPosRankSum=-1.143e+00;SOR=0.557	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1428	20	0	1	0
chr13	52119332	52119332	G	C	exonic	NEK5	.	nonsynonymous SNV	NEK5:NM_001365552:exon4:c.C201G:p.F67L	.	.	503	1018	1	0	0	1	0.000490918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.997	D	0.953	D	0.000	D	1.000	N	0.225	N	2.02	T	-1.051	T	0.048	T	0.523	-0.106	3.481	2.62	0.617	0.615	7.610	0.179	0.00589589544927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.015e-07	6.842e-07	0	1.408e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.398	0.10553	T	0.181	0.29346	T	0.997	0.70673	D	0.953	0.69275	D	0.000104	0.50451	D	0.082365	0.999837	0.20152	N	-0.315	0.03579	N	2.02	0.21119	T	-2.47	0.53898	N	0.313	0.35301	-1.0514	0.14009	T	0.048	0.20355	T	10	0.17366493	0.32205	T	0.005896	0.15340	T	0.179	0.44899	0.539	0.65018	0.119812018005	0.11559	0.25013189208257236	0.24927	0.264227936891	0.28972	0.588705062866	0.51311	T	0.006967	0.06393	T	-0.165742	0.25880	T	-0.475853	0.24888	T	0.887069940567017	0.53753	D	0.855914	0.54393	D	0.22246984	0.44847	0.1384065	0.33055	0.22246984	0.44848	0.1384065	0.33055	-6.23	0.48165	T	.	.	0.608	0.69600	P	.;.;.	.;.;.	1.848151	0.23478	16.03	0.87120193306818783	0.17002	0.32719	0.24654	N	AEFGBI	0.221212	0.34587	N	-0.159243753953321	0.34843	1.993985	-0.211712780309337	0.31113	1.757882	0.999639355762818	0.41205	0.516011	0.20929	0	0.59043	0.45803	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.3	2.62	0.30337	0.516000	0.22523	3.116000	0.36380	0.676000	0.76740	0.155000	0.23727	0.999000	0.35428	0.861000	0.40843	0.4103:0.0:0.5897:0.0	7.610	0.27290	756	0.51065	.;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1286.98	36	chr13	52119332	.	G	C	1286.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.038;DP=822;ExcessHet=0.0000;FS=0.684;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.38;ReadPosRankSum=1.44;SOR=0.797	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,101,1163	20	0	1	0
chr13	52136222	52136224	TGG	-	exonic	NEK3	.	nonframeshift deletion	NEK3:NM_001146099:exon12:c.1015_1017del:p.P339del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	3e-05	0.0011	0.0006	8.41e-05	13	154602	rs764846559	6.158e-05	6.156e-05	3.132e-05	9.216e-05	0.0017	5.096e-05	4.716e-05	0.0009	0.0007	0	0	0	0	0	0.0017	0	8.283e-05	0.0009	1.313e-05	1.312e-05	0	2.685e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2403.94	35	chr13	52136221	.	TTGG	T	2403.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.092e+00;DP=831;ExcessHet=0.0000;FS=2.387;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.55;ReadPosRankSum=-1.780e-01;SOR=0.470	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1278	20	0	1	0
chr13	52152646	52152646	T	C	exonic	NEK3	.	nonsynonymous SNV	NEK3:NM_001146099:exon5:c.A356G:p.H119R	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	.	.	-1.86	D	0.545	D	0.699	D	0.81	4.555	24.7	5.92	2.259	7.346	16.370	0.882	0.061701922285	.	0.000998403	0.0005	0	8.691e-05	0.0061	0	3.017e-05	0	0	0.0003881	60	154602	rs141399003	0.0001	0.0001	0.0001	0.0001	0.0037	0.0001	0.0001	0.0032	0.0030	0	2.255e-05	0	0.0037	0	0	3.241e-05	0.0001	0	0.0002	0.0002	0.0002	0.0002	0.0050	0.0001	0.0001	0.0035	0.0030	0	0	6.539e-05	0	0.0050	0	0	0	0	0	.	.	.	0.005	0.72224	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.135	0.88152	M	.	.	.	.	.	.	0.98	0.99100	0.545	0.91170	D	0.699	0.89627	D	9	0.109850705	0.20508	T	0.061702	0.68417	D	.	.	.	.	0.429091045357	0.42525	0.9404636316206417	0.94027	.	.	0.671794116497	0.63094	T	0.190065	0.54449	T	-0.0409546	0.45805	T	0.171563	0.81503	D	0.237147584444888	0.22288	T	0.911709	0.72041	D	0.4568961	0.64478	0.44854242	0.67895	0.4568961	0.64479	0.44854242	0.67896	-12.378	0.86643	D	.	.	0.878	0.86484	P	.;.;.;.	.;.;.;.	4.557084	0.71774	25.7	0.99789044923107628	0.87484	0.98829	0.87402	D	AEFBI	0.864959	0.78390	D	0.743340063600151	0.82468	7.770603	0.755013363101041	0.86531	8.919167	0.999999395334807	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.92	5.92	0.95557	7.362000	0.78764	7.663000	0.64347	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	16.370	0.83187	718	0.55760	Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	995.98	34	chr13	52152646	.	T	C	995.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.712;DP=819;ExcessHet=0.0000;FS=6.045;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.89;ReadPosRankSum=-5.680e-01;SOR=1.169	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1304	20	0	1	0
chr13	52461320	52461320	A	G	exonic	CKAP2	.	nonsynonymous SNV	CKAP2:NM_001098525:exon4:c.A497G:p.Q166R	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.925	P	0.621	P	0.189	N	0.998	N	2.32	M	2.13	T	-1.058	T	0.089	T	0.108	3.330	17.20	2.71	0.855	2.621	6.788	0.056	0.00798180176093	.	0.000998403	0.0009	0	0	0	0	0	0	0.0065	0.0007374	114	154602	rs538606264	0.0004	0.0004	0.0002	0.0005	0.0058	0.0003	0.0003	0.0054	0.0052	0	0	0	0	0	0.0003	3.597e-06	0.0005	0.0058	0.0002	0.0002	3.854e-05	0.0003	0.0060	0.0001	0.0001	0.0043	0.0037	0	0	0	0	0	0	0	0	0	0.0060	0.017	0.51248	D	0.082	0.42086	T	0.925	0.51395	P	0.621	0.51426	P	0.188770	0.16903	N	0.595481	0.997617	0.22584	N	2.745	0.80253	M	1.79	0.25509	T	-3.0	0.62343	D	0.139	0.19190	-1.0575	0.12388	T	0.089	0.34271	T	10	0.0062499344	0.00141	T	0.007982	0.21162	T	0.056	0.15993	0.165	0.06955	0.33085137897	0.32697	0.07744222479544711	0.07680	0.328660908213	0.34977	0.324867516756	0.14158	T	0.093564	0.66252	T	-0.530093	0.00383	T	-0.531467	0.19141	T	0.158609787310015	0.17768	T	0.691931	0.30130	T	0.05114879	0.09351	0.09003129	0.21088	0.05114879	0.09350	0.09003129	0.21088	-4.602	0.32197	T	.	.	0.129	0.27672	B	.;.;.;.;.	.;.;.;.;.	3.971213	0.58314	24.0	0.99634777606047953	0.76264	0.80402	0.40049	D	AEFDGBI	0.206158	0.33244	N	0.223801644049548	0.52354	3.410145	0.21111665716656	0.50462	3.238135	0.999991999453189	0.74766	0.706548	0.73137	0	0.581341	0.33841	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	2.71	0.31092	2.899000	0.48378	7.592000	0.61280	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.949000	0.49496	0.6906:0.2261:0.0833:0.0	6.788	0.22869	612	0.66786	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1794.98	36	chr13	52461320	.	A	G	1794.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.930;DP=949;ExcessHet=0.0000;FS=6.281;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=-3.800e-01;SOR=0.585	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1131	20	0	1	0
chr13	52461388	52461388	A	G	exonic	CKAP2	.	nonsynonymous SNV	CKAP2:NM_001098525:exon4:c.A565G:p.N189D	.	.	433	1078	11	0	0	11	0.00507614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.996	D	0.898	P	0.000	N	0.798	D	2.17	M	2.01	T	-0.755	T	0.147	T	0.203	3.503	17.90	4.01	0.825	1.874	9.612	0.106	0.0144471386127	0.0002	0.00139776	0.0011	0	0.0002	0.0001	0	0.0002	0.0033	0.0067	0.0009638	149	154602	rs202229967	0.0006	0.0006	0.0004	0.0008	0.0074	0.0005	0.0005	0.0069	0.0067	2.987e-05	0.0002	0	2.519e-05	0	0.0017	0.0001	0.0006	0.0074	0.0004	0.0004	0.0003	0.0004	0.0066	0.0003	0.0003	0.0048	0.0042	0	0	0.0001	0	0	0	0	0.0003	0	0.0066	0.0	0.91255	D	0.058	0.46182	T	0.995	0.67487	D	0.898	0.63708	P	0.000005	0.62929	N	0.063249	0.798279	0.34477	D	2.4	0.69460	M	1.58	0.29085	T	-2.99	0.63554	D	0.214	0.28498	-0.7548	0.57683	T	0.147	0.47201	T	9	0.008205891	0.00186	T	0.014447	0.34575	T	0.106	0.30130	.	.	0.241078983079	0.23725	0.25504385482322084	0.25418	0.370295865773	0.38553	0.436763465405	0.30135	T	0.247199	0.61680	T	-0.482599	0.00714	T	-0.462271	0.26352	T	0.0887426653985173	0.11067	T	0.721828	0.33531	T	0.6273262	0.74155	0.6370526	0.78807	0.6273262	0.74156	0.6370526	0.78808	-4.132	0.37325	T	.	.	0.176	0.43462	B	.;.;.;.	.;.;.;.	2.535192	0.32784	19.15	0.99740545744037179	0.83482	0.81330	0.40756	D	AEDBI	.	.	.	0.355651432425928	0.59040	4.080142	0.296097418893518	0.55310	3.69429	0.999998256619928	0.74766	0.706548	0.73137	0	0.581341	0.33841	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.19	4.01	0.45821	2.141000	0.41792	2.434000	0.32743	0.756000	0.94297	0.987000	0.36337	0.847000	0.27355	0.981000	0.58702	0.9165:0.0:0.0835:0.0	9.612	0.38830	612	0.66786	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1837.98	36	chr13	52461388	.	A	G	1837.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=1044;ExcessHet=0.0000;FS=1.392;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.14;ReadPosRankSum=-1.011e+00;SOR=0.589	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1131	20	0	1	0
chr13	53041916	53041916	G	A	exonic	OLFM4	.	nonsynonymous SNV	OLFM4:NM_006418:exon3:c.G364A:p.E122K,	.	.	438	1082	1	1	0	3	0.0013844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.972	D	0.805	P	0.001	D	0.996	D	2.33	M	-2.71	D	0.525	D	0.771	D	0.328	3.223	16.80	4.87	1.436	1.705	10.709	0.481	0.136019019292	7.7e-05	.	0.0002	0.0002	0.0003	0	0	0.0002	0	0.0002	0.0002393	37	154602	rs201799697	0.0003	0.0003	0.0003	0.0003	0.0007	0.0003	0.0003	0.0005	0.0004	0.0001	0.0007	0	0	0	0.0002	0.0003	0.0004	0.0002	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	0.0001	0	0.0005	0	0	0	0	0.0005	0	0.0002	0.064	0.36509	T	0.221	0.25827	T	0.972	0.57405	D	0.805	0.58399	P	0.000522	0.43581	D	0.227351	0.996404	0.43185	D	2.09	0.57893	M	-2.71	0.90566	D	-2.23	0.50012	N	0.256	0.28965	0.525	0.90892	D	0.771	0.92216	D	10	0.24985313	0.42303	T	0.136019	0.81850	D	0.481	0.77142	.	.	0.867399605611	0.86611	0.6898365882229067	0.68923	0.107911842593	0.12170	0.444726914167	0.31223	T	0.199477	0.55677	T	-0.202414	0.20457	T	-0.181359	0.56397	T	0.0620579905807972	0.07490	T	0.769523	0.39899	T	0.13165466	0.30681	0.19593404	0.43297	0.13165466	0.30681	0.19593404	0.43296	-3.443	0.15642	T	.	.	0.101	0.17360	B	.	.	2.951346	0.39270	20.9	0.99852689625203661	0.93191	0.83745	0.42843	D	AEFI	0.496187	0.53124	N	0.312736342034433	0.56801	3.845567	0.23917869765512	0.52036	3.381304	0.00153297090916803	0.08622	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.71	4.87	0.62877	2.279000	0.43094	3.086000	0.36259	0.676000	0.76740	0.938000	0.32564	1.000000	0.68203	0.809000	0.38129	0.0717:0.1321:0.7962:0.0	10.709	0.45166	339	0.86048	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1120.98	34	chr13	53041916	.	G	A	1120.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.94;DP=786;ExcessHet=0.0000;FS=2.781;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=-1.434e+00;SOR=1.018	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1218	20	0	1	0
chr13	59839431	59839431	C	G	exonic	DIAPH3	.	nonsynonymous SNV	DIAPH3:NM_030932:exon17:c.G1966C:p.E656Q	Auditory neuropathy, autosomal dominant, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.957	D	0.642	P	0.000	D	0.749	D	0.125	N	2.25	T	-1.120	T	0.033	T	0.265	1.306	10.28	5.19	2.585	4.420	19.072	0.139	0.00926361385992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.665	0.04629	T	0.944	0.02662	T	0.957	0.54824	D	0.642	0.52168	P	0.000000	0.84330	D	0.000000	0.748539	0.33902	D	1.325	0.33218	L	2.25	0.17761	T	-0.25	0.11008	N	0.368	0.46649	-1.1196	0.02357	T	0.033	0.14377	T	10	0.24844795	0.42141	T	0.009264	0.24319	T	0.139	0.37390	0.579	0.70476	0.199424873507	0.19547	0.3078517233058756	0.30698	0.578654972884	0.53766	0.424586355686	0.28468	T	0.010769	0.09688	T	-0.190928	0.22122	T	-0.512031	0.21105	T	0.826390504837036	0.48252	D	0.818618	0.52873	T	0.30260983	0.53138	0.26132146	0.51908	0.30260983	0.53138	0.26132146	0.51907	-3.231	0.19850	T	.	.	0.108	0.23605	B	.;.;.;.;.;.	.;.;.;.;.;.	4.728693	0.76132	26.5	0.98758708090682246	0.45770	0.95910	0.66682	D	AEFBI	0.535548	0.55413	D	-0.0112595483317412	0.41345	2.471	0.15849252055076	0.47593	2.987276	0.999994519410229	0.74766	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.19	5.19	0.71428	4.491000	0.60048	7.647000	0.63496	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.072	0.93126	862	0.33134	Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	508.98	40	chr13	59839431	.	C	G	508.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.271;DP=736;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.79;ReadPosRankSum=1.15;SOR=0.671	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1059	20	0	1	0
chr13	59971024	59971024	G	A	exonic	DIAPH3	.	nonsynonymous SNV	DIAPH3:NM_001258370:exon10:c.C998T:p.P333L	Auditory neuropathy, autosomal dominant, 1, Autosomal dominant	.	0	1461	59	2	0	63	0.0211055	.	.	504315	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.26	T	0.238	B	0.092	B	0.001	D	1.000	D	1.445	L	2.22	T	-0.257	T	0.415	T	0.397	4.618	25.2	4.41	2.457	4.877	13.275	0.304	.	0.0040	0.00778754	0.0085	0.0008	0.0062	0.0001	0.0014	0.0060	0.0089	0.0318	0.0076778	1187	154602	rs150023947	0.0063	0.0063	0.0055	0.0072	0.0319	0.0062	0.0062	0.0309	0.0305	0.0006	0.0044	0.0296	0.0001	0.0011	0.0119	0.0044	0.0086	0.0319	0.0047	0.0047	0.0042	0.0052	0.0251	0.0044	0.0043	0.0215	0.0201	0.0008	0.0461	0.0051	0.0300	0	0.0016	0.0034	0.0043	0.0085	0.0251	0.005	0.68238	D	0.001	0.83351	D	0.125	0.30817	B	0.028	0.30031	B	0.000959	0.40932	D	0.247452	1	0.81001	D	2.25	0.63811	M	-2.15	0.86481	D	-5.16	0.84246	D	0.291	0.33469	-0.2568	0.76174	T	0.415	0.76211	T	10	0.0070751607	0.00161	T	.	.	.	0.304	0.62510	.	.	0.931659697617	0.93095	0.43640497725947763	0.43557	0.595140059168	0.54798	0.630806744099	0.57260	T	0.154959	0.49648	T	-0.235202	0.15967	T	-0.0869431	0.64391	T	0.0280072759026319	0.01689	T	0.813719	0.56350	T	0.23259822	0.46050	0.23462705	0.48684	0.23259822	0.46050	0.23462705	0.48683	-8.137	0.63445	D	.	.	0.096	0.16451	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.435212	0.47760	22.5	0.98970279956217821	0.49520	0.96298	0.68457	D	AEFDBI	0.657088	0.62884	D	-0.00404400910006807	0.41672	2.496801	0.127604620753477	0.45966	2.850574	0.999999997408739	0.74766	0.675385	0.55134	0	0.633656	0.55848	0	0.693117	0.63056	0	0.655142	0.61905	0	.	.	5.27	4.41	0.52588	5.930000	0.69823	6.163000	0.54371	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.749000	0.35751	0.0765:0.0:0.9235:0.0	13.275	0.59617	908	0.22609	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1161.98	34	chr13	59971024	.	G	A	1161.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.988;DP=758;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.37;ReadPosRankSum=2.17;SOR=0.757	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1294	20	0	1	0
chr13	59991176	59991176	C	T	exonic	DIAPH3	.	nonsynonymous SNV	DIAPH3:NM_001258370:exon6:c.G554A:p.R185Q	Auditory neuropathy, autosomal dominant, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1493298	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.999	D	0.000	D	0.997	D	2.855	M	-1.82	D	0.784	D	0.827	D	0.789	5.156	32	5.63	2.635	6.993	19.670	0.723	0.106866005819	.	.	1.785e-05	0	0	0	0	1.632e-05	0	6.329e-05	1.29e-05	2	154602	rs145827856	1.034e-05	1.3e-05	1.374e-06	1.939e-05	4.654e-05	6.21e-06	4.93e-06	1.586e-05	9.32e-06	0	0	0	0	0	0	8.16e-06	3.339e-05	4.654e-05	6.583e-06	6.569e-06	1.287e-05	0	6.571e-05	0	0	.	.	0	0	6.571e-05	0	0	0	0	0	0	0	0.003	0.72154	D	0.031	0.54541	D	0.998	0.90584	D	0.949	0.92359	D	0.000000	0.84330	D	0.000000	0.997034	0.43584	D	2.97	0.85306	M	-2.26	0.87352	D	-3.71	0.70674	D	0.864	0.87157	0.784	0.94213	D	0.827	0.94175	D	10	0.8870833	0.88039	D	0.106866	0.78268	D	0.723	0.90235	0.732	0.86547	0.976346015713	0.97609	0.5915366031479539	0.59083	0.623859276739	0.56610	0.603440284729	0.53390	T	0.486685	0.81307	T	0.223744	0.76131	D	0.184247	0.82239	D	0.992608189582825	0.83127	D	0.987835	0.95955	D	0.7632435	0.81645	0.71124536	0.82965	0.7632435	0.81647	0.71124536	0.82966	-9.77	0.72736	D	.	.	0.378	0.58292	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.400632	0.90437	31	0.99945398682267084	0.99886	0.98005	0.78807	D	AEFBI	0.871700	0.79322	D	0.901928136342395	0.91853	11.09971	0.86224152910004	0.93711	12.22662	0.999999999999762	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.63	5.63	0.86108	7.073000	0.76472	5.981000	0.52169	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.670	0.95905	914	0.21048	Formin, FH3 domain|Rho GTPase-binding/formin homology 3 (GBD/FH3) domain|Formin, FH3 domain;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1327.98	33	chr13	59991176	.	C	T	1327.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.060e-01;DP=794;ExcessHet=0.0000;FS=0.750;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=-3.240e-01;SOR=0.599	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr13	66903591	66903591	G	T	exonic	PCDH9	.	nonsynonymous SNV	PCDH9:NM_001318372:exon3:c.C3051A:p.S1017R	.	.	428	1075	18	1	0	20	0.00921659	.	.	2813923	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.36	T	0.828	P	0.221	B	0.012	N	1.000	D	0	N	0.69	T	-1.065	T	0.064	T	0.474	2.859	15.53	5.5	2.581	2.855	14.898	0.089	0.00624237606417	0.0011	0.00139776	0.0020	9.705e-05	0.0011	0.0001	0.0002	0.0014	0.0034	0.0082	0.0018628	288	154602	rs149470963	0.0016	0.0017	0.0013	0.0018	0.0070	0.0015	0.0015	0.0065	0.0063	9.679e-05	0.0010	0.0028	5.137e-05	0.0001	0.0043	0.0013	0.0017	0.0070	0.0011	0.0011	0.0013	0.0010	0.0048	0.0010	0.0010	0.0033	0.0028	0.0002	0	0.0007	0.0032	0.0004	0	0.0034	0.0017	0.0009	0.0048	0.309	0.14064	T	0.196	0.27943	T	0.828	0.46021	P	0.221	0.37837	B	0.012367	0.29198	N	0.245363	0.87459	0.81001	D	0.69	0.16971	N	0.69	0.51714	T	0.01	0.06868	N	0.658	0.66787	-1.0653	0.10479	T	0.064	0.26491	T	10	0.0070990026	0.00161	T	0.006242	0.16376	T	0.089	0.25827	0.247	0.18293	0.189391138174	0.18552	0.316446336082702	0.31557	.	.	0.456158220768	0.32785	T	0.007168	0.06585	T	-0.418835	0.01740	T	-0.370259	0.36859	T	0.0155364057511116	0.00352	T	0.506149	0.16021	T	0.18247929	0.39469	0.21061423	0.45456	0.18247929	0.39469	0.21061423	0.45455	-4.149	0.26009	T	.	.	0.145	0.48766	B	.;.	.;.	3.540317	0.49714	22.8	0.99471787034464421	0.66365	0.92168	0.55096	D	AEFI	0.546115	0.56035	D	-0.0289310510141932	0.40549	2.409923	0.170533189270105	0.48239	3.042645	0.999989503311546	0.51787	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.5	5.5	0.81386	2.773000	0.47370	11.654000	0.93914	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	14.898	0.70301	749	0.51929	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	782.98	33	chr13	66903591	.	G	T	782.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.850e-01;DP=721;ExcessHet=0.0000;FS=1.204;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.40;ReadPosRankSum=0.961;SOR=0.957	GT:AD:DP:GQ:PL	0/0:27,0:27:69:0,69,1035	20	0	1	0
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.995	D	0.000	D	0.987	D	3.165	M	-0.39	T	0.346	D	0.580	D	0.608	3.858	19.60	5.08	2.520	4.058	18.834	0.426	0.0648284192983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.63109	D	0.998	0.73220	D	0.992	0.80445	D	0.000036	0.55875	D	0.000000	0.986518	0.40444	D	2.89	0.83701	M	-0.39	0.69158	T	-2.91	0.60982	D	0.547	0.58629	0.346	0.88281	D	0.580	0.84898	D	10	0.5550405	0.64469	D	0.064828	0.69397	D	0.426	0.73372	0.457	0.52265	0.77630264569	0.77424	0.20463235290269857	0.20380	0.210258746393	0.23511	0.712280154228	0.68924	T	0.595999	0.86982	D	0.0531689	0.58749	T	-0.161403	0.58226	T	0.988282024860382	0.78636	D	0.964204	0.86724	D	0.46265322	0.64836	0.37256262	0.62462	0.46265322	0.64837	0.37256262	0.62462	-10.752	0.78280	D	.	.	0.481	0.63722	A	.;.	.;.	5.474448	0.91308	32	0.99901283922638506	0.97275	0.94895	0.62702	D	AEFI	0.697597	0.65555	D	0.812871305168358	0.86905	9.037639	0.740323524884371	0.85433	8.578981	0.985978107960792	0.30982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	3.554000	0.53466	11.664000	0.94021	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.834	0.92121	907	0.22727	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.375	1218.29	151	chr13	69882456	.	G	A	1218.29	.	AC=15;AF=0.375;AN=40;BaseQRankSum=-2.253e+00;DP=2755;ExcessHet=17.4423;FS=173.681;InbreedingCoeff=-0.5810;MLEAC=15;MLEAF=0.375;MQ=60.00;MQRankSum=0.00;QD=0.68;ReadPosRankSum=0.201;SOR=13.428	GT:AD:DP:GQ:PL	0/1:73,34:131:88:88,0,926	5	0	15	1
chr13	71489122	71489122	C	T	exonic	DACH1	.	nonsynonymous SNV	DACH1:NM_004392:exon3:c.G991A:p.A331T	.	.	439	1082	1	0	0	1	0.000461894	.	.	2763456	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.3	T	0.932	P	0.398	B	0.000	D	1.000	D	1.39	L	1.52	T	-1.106	T	0.065	T	0.152	1.930	12.41	3.33	1.284	5.594	12.453	0.043	0.00410863754956	.	.	2.487e-05	0	0	0.0001	0	3.001e-05	0	0	1.94e-05	3	154602	rs751897642	2.259e-05	2.257e-05	1.498e-05	3.027e-05	0.0003	1.611e-05	1.417e-05	0.0002	0.0002	2.99e-05	0	0	0.0003	0	0.0002	9.897e-06	8.285e-05	2.321e-05	6.578e-06	1.313e-05	1.287e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	0.564	0.16328	T	0.1	0.51990	B	0.036	0.44426	B	0.000000	0.84330	D	0.052766	0.999993	0.58761	D	.	.	.	.	.	.	.	.	.	0.467	0.53796	-1.1061	0.03427	T	0.065	0.26948	T	10	0.12531522	0.23813	T	0.004109	0.09838	T	.	.	.	.	0.151262610727	0.14761	0.49348685154023375	0.49269	.	.	0.743359744549	0.73467	T	.	.	.	-0.338736	0.05476	T	-0.415479	0.31594	T	0.178785875439644	0.19158	T	0.882612	0.61998	D	0.29205644	0.52183	0.32405236	0.58332	0.29205644	0.52183	0.32405236	0.58332	-2.878	0.10719	T	.	.	0.066	0.09045	B	.;.;.;.	.;.;.;.	4.050508	0.60035	24.2	0.98760279824236064	0.45800	0.96569	0.69797	D	AEFDI	0.620946	0.60582	D	0.0140024875548822	0.42493	2.561235	0.12296654916118	0.45726	2.830695	0.0512993285811926	0.14868	0.615465	0.37627	0	0.573888	0.26702	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.1	3.33	0.37245	4.653000	0.61156	4.819000	0.45103	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.856:0.0:0.144	12.453	0.55022	964	0.07719	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	867.98	33	chr13	71489122	.	C	T	867.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.392;DP=766;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=0.961;SOR=0.610	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,998	20	0	1	0
chr13	71630678	71630678	T	C	exonic	DACH1	.	nonsynonymous SNV	DACH1:NM_001366712:exon3:c.A1004G:p.N335S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.998	D	0.987	D	0.000	D	1.000	D	1.04	L	1.49	T	-0.985	T	0.138	T	0.247	3.387	17.43	6.16	2.367	7.603	16.806	0.117	0.00537194056177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.5e-06	5.473e-06	6.84e-06	4.146e-06	6.306e-06	2.37e-06	1.71e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.306e-06	1.665e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	0.12246	T	0.885	0.73220	P	0.406	0.77487	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.534	0.59732	-0.9847	0.33903	T	0.138	0.45583	T	10	0.3700006	0.53401	T	0.005372	0.13771	T	.	.	.	.	0.284112513307	0.28011	0.7450470202332026	0.74450	.	.	0.736869096756	0.72512	T	.	.	.	-0.0462818	0.45009	T	-0.304257	0.44272	T	0.94986617565155	0.63208	D	0.876912	0.59215	D	0.3382255	0.56137	0.28868425	0.54886	0.3382255	0.56137	0.28868425	0.54885	-3.472	0.29786	T	.	.	0.115	0.51618	B	.;.;.	.;.;.	3.516863	0.49280	22.8	0.99499003482864179	0.67916	0.98917	0.88597	D	AEFGI	0.949628	0.96245	D	0.593273878875372	0.72752	5.855752	0.671104790417154	0.80192	7.244284	0.999999999964593	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	6.16	6.16	0.99302	7.580000	0.81812	7.834000	0.70237	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	16.806	0.85530	964	0.07719	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1363.98	34	chr13	71630678	.	T	C	1363.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=805;ExcessHet=0.0000;FS=3.838;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=-1.428e+00;SOR=1.121	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,99,1485	20	0	1	0
chr13	71866312	71866314	CTG	-	exonic	DACH1	.	nonframeshift deletion	DACH1:NM_001366712:exon1:c.456_458del:p.S163del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0176	.	0.0065	0.0024	0.0044	0.0040	0	0.0038	0.0089	0.0117	0.0013971	216	154602	rs762670469	0.0006	0.0093	0.0006	0.0006	0.0012	0.0006	0.0006	0.0009	0.0008	0.0010	0.0012	0.0009	0.0007	0.0011	0	0.0006	0.0006	0.0006	5.964e-05	0.0001	3.883e-05	8.149e-05	0.0003	3.101e-05	2.227e-05	8.921e-05	5.416e-05	0	0	0.0003	0.0006	0	0	0	4.442e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	36.94	38	chr13	71866311	.	ACTG	A	36.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.410e-01;DP=785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.64;ReadPosRankSum=0.125;SOR=0.518	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1485	20	0	1	0
chr13	71866535	71866535	-	GCCGCC	exonic	DACH1	.	nonframeshift insertion	DACH1:NM_001366712:exon1:c.234_235insGGCGGC:p.G81_S82insGG	.	.	6	167	15	3	35	56	0.0591549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3245.31	39	chr13	71866526	.	TGCCGCCGCC	T,TGCCGCCGCCGCCGCC	3245.31	.	AC=2,5;AF=0.048,0.119;AN=42;BaseQRankSum=0.433;DP=629;ExcessHet=0.2785;FS=2.709;InbreedingCoeff=0.1429;MLEAC=2,5;MLEAF=0.048,0.119;MQ=60.00;MQRankSum=0.00;QD=18.65;ReadPosRankSum=0.142;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0:34:99:.:.:0,102,1103,102,1103,1103	15	0	2	0
chr13	71866566	71866566	-	GCC	exonic	DACH1	.	nonframeshift insertion	DACH1:NM_001366712:exon1:c.203_204insGGC:p.A68_T69insA	.	.	227	1293	2	0	0	2	0.000772798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0054	0.00399361	0.0083	0.0435	0.0196	0	0	0.0006	0	0	0.000608	94	154602	rs538753327	0.0006	0.0006	0.0007	0.0006	0.0221	0.0006	0.0006	0.0205	0.0199	0.0221	0.0024	0	0.0001	0	0.0009	0.0001	0.0015	4.695e-05	0.0071	0.0072	0.0074	0.0068	0.0248	0.0068	0.0066	0.0235	0.0230	0.0248	0.0011	0.0017	0	0	0	0.0035	0.0002	0.0063	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	807.94	42	chr13	71866566	.	G	GGCC	807.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.477e+00;DP=686;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.44;ReadPosRankSum=-2.090e-01;SOR=0.542	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1061	20	0	1	0
chr13	75326228	75326228	G	C	exonic	TBC1D4	.	nonsynonymous SNV	TBC1D4:NM_001286658:exon10:c.C2002G:p.L668V	.	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	1.0	D	0.996	D	0.007	N	1.000	D	1.7	L	0.65	T	-0.896	T	0.202	T	0.225	1.438	10.75	1.84	0.097	3.951	7.865	0.151	0.0289985838194	.	.	2.49e-05	0	0	0	0	1.5e-05	0	0.0001	1.94e-05	3	154602	rs759763499	1.573e-05	1.573e-05	1.089e-05	2.063e-05	0.0003	1.048e-05	8.75e-06	0.0001	9.45e-05	0	0	0	0	0	0.0003	0	8.279e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.40319	T	0.036	0.52060	D	0.729	0.90584	P	0.623	0.84481	P	0.007292	0.31484	N	0.147378	0.999994	0.58761	D	2.05	0.56469	M	0.65	0.52642	T	-1.2	0.30964	N	0.505	0.53708	-0.8962	0.48370	T	0.202	0.55947	T	10	0.16101041	0.30213	T	0.028999	0.51584	D	0.151	0.39764	0.246	0.18139	0.655285266991	0.65241	0.5710197310555528	0.57029	1.09284184008	0.77491	0.512019395828	0.40505	T	0.08623	0.37901	T	-0.33773	0.05547	T	-0.430753	0.29849	T	0.287652403116226	0.24491	T	0.918208	0.71813	D	0.088550374	0.20660	0.06473003	0.13016	0.088550374	0.20660	0.06473003	0.13015	-7.72	0.59147	D	.	.	0.070	0.11749	B	.;.;.;.;.	.;.;.;.;.	3.215418	0.43783	21.8	0.98683902803236379	0.44652	0.85521	0.44662	D	ALL	0.275743	0.39063	N	-0.200692022945938	0.33104	1.874508	-0.296338441914409	0.28219	1.571653	0.999999877907866	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.657601	0.63696	0	.	.	5.48	1.84	0.24348	3.364000	0.52052	4.571000	0.43881	-0.633000	0.04490	0.998000	0.41325	1.000000	0.68203	0.307000	0.24666	0.1855:0.1165:0.6981:0.0	7.865	0.28693	966	0.07191	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1688.98	34	chr13	75326228	.	G	C	1688.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.928e+00;DP=795;ExcessHet=0.0000;FS=1.609;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.50;ReadPosRankSum=2.20;SOR=0.513	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1446	20	0	1	0
chr13	75727060	75727062	AAG	-	exonic	LMO7	.	nonframeshift deletion	LMO7:NM_001306080:exon3:c.172_174del:p.K59del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.477e-05	0	0	0	0	3.182e-05	0.0012	6.434e-05	2.59e-05	4	154602	rs759588492	2.295e-05	2.463e-05	1.387e-05	3.209e-05	8.187e-05	1.637e-05	1.44e-05	3.795e-05	2.681e-05	6.064e-05	0	0	0	5.621e-05	0	1.741e-05	3.36e-05	8.187e-05	2.629e-05	2.627e-05	2.571e-05	2.69e-05	4.411e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	9.42e-05	0	4.411e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1544.94	35	chr13	75727059	.	TAAG	T	1544.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.484;DP=794;ExcessHet=0.0000;FS=1.694;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.26;ReadPosRankSum=0.241;SOR=0.527	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1283	20	0	1	0
chr13	76957644	76957644	G	T	exonic	ACOD1	.	nonsynonymous SNV	ACOD1:NM_001258406:exon5:c.G1105T:p.V369L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	0.000	D	0.565	N	2.445	M	.	.	-0.396	T	0.242	T	0.527	2.769	15.22	5.07	1.521	2.864	7.148	0.187	0.0291721436055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.152e-07	6.84e-07	1.411e-06	0	9.268e-07	0	0	.	.	0	0	0	0	0	0	9.268e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.022	0.57587	D	.	.	.	.	.	.	0.000051	0.53742	D	0.162341	0.565117	0.31225	N	2.8	0.81625	M	.	.	.	-2.16	0.48850	N	0.381	0.42247	-0.3961	0.72150	T	0.242	0.61036	T	7	0.56662613	0.65086	D	0.029172	0.51725	D	0.187	0.46274	0.674	0.81200	0.0920862733494	0.08535	0.695058440552083	0.69446	.	.	0.328187942505	0.14660	T	0.049565	0.28344	T	0.0128238	0.53409	T	-0.219356	0.52799	T	0.983084499835968	0.74885	D	0.949505	0.80559	D	0.45412558	0.64302	0.22371483	0.47260	0.45412558	0.64303	0.22371483	0.47259	-7.207	0.55532	T	.	.	0.621	0.69755	P	.;.	.;.	3.002231	0.40121	21.1	0.99121614643522749	0.53011	0.95147	0.63610	D	AEFBI	0.667712	0.63574	D	0.153927992730183	0.48997	3.105252	0.170424303672945	0.48233	3.042127	0.999999077180837	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.91	5.07	0.68106	3.497000	0.53057	3.765000	0.39732	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.535000	0.29822	0.2808:0.0:0.7192:0.0	7.148	0.24770	933	0.16026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1754.98	42	chr13	76957644	.	G	T	1754.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.403;DP=882;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.02;ReadPosRankSum=-1.162e+00;SOR=0.658	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1178	20	0	1	0
chr13	77067802	77067802	T	C	exonic	MYCBP2	.	nonsynonymous SNV	MYCBP2:NM_015057:exon71:c.A12234G:p.I4078M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.968	D	0.655	P	0.000	D	1.000	D	0.205	N	1.46	T	-1.078	T	0.082	T	0.634	2.815	15.37	-1.92	-0.153	0.088	8.758	0.022	0.0115253655637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.16466	T	0.251	0.23638	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999895	0.50595	D	.	.	.	1.46	0.32238	T	-0.96	0.25551	N	0.749	0.74826	-1.0782	0.07701	T	0.082	0.32178	T	10	0.3570794	0.52432	T	0.011525	0.29227	T	0.201	0.48592	0.247	0.18293	0.330666884367	0.32679	.	.	1.88852735366	0.92696	0.749631047249	0.74393	T	.	.	.	-0.0773664	0.40141	T	-0.348908	0.39329	T	0.779179155826569	0.44999	D	0.936906	0.76326	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.954089	0.24822	16.54	0.97259976214475208	0.33084	0.85598	0.44747	D	AEFBI	0.163424	0.28970	N	-0.284287158079933	0.29754	1.652899	-0.234837992449406	0.30297	1.704654	0.999724602107895	0.42220	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.95	-1.92	0.07203	0.084000	0.14738	0.877000	0.22363	0.660000	0.55035	0.982000	0.35529	1.000000	0.68203	1.000000	0.97212	0.2189:0.0:0.4518:0.3293	8.758	0.33816	897	0.25382	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2332.98	35	chr13	77067802	.	T	C	2332.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=859;ExcessHet=0.0000;FS=1.297;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=1.59;SOR=0.862	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1291	20	0	1	0
chr13	77618018	77618018	A	G	exonic	SCEL	.	nonsynonymous SNV	SCEL:NM_001160706:exon25:c.A1460G:p.N487S	.	.	412	1103	6	1	0	8	0.00361337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.571	P	0.163	B	0.337	N	1.000	N	1.825	L	1.46	T	-1.043	T	0.056	T	0.033	1.030	9.209	1.54	0.424	1.130	7.463	0.104	0.00429397487723	0.0032	0.00139776	0.0045	0.0009	0.0010	0	0.0065	0.0063	0.0055	0.0035	0.0045795	708	154602	rs145663548	0.0049	0.0050	0.0050	0.0049	0.0055	0.0048	0.0048	0.0054	0.0054	0.0006	0.0027	0.0011	0	0.0069	0.0035	0.0055	0.0039	0.0031	0.0041	0.0041	0.0044	0.0039	0.0067	0.0039	0.0038	0.0062	0.0060	0.0010	0	0.0038	0.0012	0	0.0049	0	0.0067	0.0024	0.0029	0.025	0.57480	D	0.028	0.56192	D	0.571	0.38591	P	0.163	0.34892	B	0.337008	0.14023	N	0.679388	1	0.08975	N	2.39	0.68882	M	1.46	0.32238	T	-1.37	0.34198	N	0.164	0.17691	-1.0433	0.16324	T	0.056	0.23413	T	10	0.003091246	0.00051	T	0.004294	0.10404	T	0.104	0.29647	.	.	0.224531998449	0.22054	0.45143971070031136	0.45061	0.0467349534079	0.05080	0.327143222094	0.14503	T	0.067987	0.33341	T	-0.633239	0.00091	T	-0.678236	0.07092	T	0.0182409550934166	0.00544	T	0.646135	0.25753	T	0.06605203	0.14177	0.08694028	0.20175	0.06605203	0.14176	0.08694028	0.20175	-4.982	0.36644	T	.	.	0.095	0.14933	B	.;.;.	.;.;.	1.612060	0.20598	14.82	0.920899846336798	0.21439	0.04172	0.09668	N	AEFI	0.045035	0.07317	N	-0.496300644983978	0.22201	1.183811	-0.535518719363126	0.21191	1.145226	0.933631149096815	0.27138	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.35	1.54	0.22290	1.129000	0.30994	2.940000	0.35661	0.756000	0.94297	0.037000	0.20830	0.169000	0.23327	0.995000	0.73285	0.7322:0.0:0.2678:0.0	7.463	0.26476	259	0.89842	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1925.98	104	chr13	77618018	.	A	G	1925.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.779;DP=1825;ExcessHet=0.0000;FS=1.898;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.13;ReadPosRankSum=-1.851e+00;SOR=0.531	GT:AD:DP:GQ:PL	0/0:89,0:89:99:0,116,1800	20	0	1	0
chr13	78602198	78602199	CG	-	exonic	POU4F1	.	frameshift deletion	POU4F1:NM_006237:exon2:c.476_477del:p.P159Rfs*189,	.	.	1459	28	0	12	23	47	0.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1431309808	0.0006	0.0017	0.0007	0.0006	0.0035	0.0005	0.0005	0.0005	0.0005	0.0003	0.0035	0	0.0011	0	0	0.0006	0.0007	0.0002	0	8.318e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	39.59	36	chr13	78602197	.	CCG	C,*	39.59	.	AC=1,1;AF=0.125,0.125;AN=8;BaseQRankSum=-6.740e-01;DP=36;ExcessHet=0.6695;FS=3.979;MLEAC=3,3;MLEAF=0.375,0.375;MQ=60.00;MQRankSum=0.00;QD=7.92;ReadPosRankSum=-6.740e-01;SOR=1.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,1,0:2:18:0|1:78602197_CCG_C:39,0,18,42,21,63:78602197	2	0	1	17
chr13	78602197	78602199	CCG	0	exonic	POU4F1	.	.	.	.	.	1459	28	0	12	23	47	0.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	39.59	36	chr13	78602197	.	CCG	C,*	39.59	.	AC=1,1;AF=0.125,0.125;AN=8;BaseQRankSum=-6.740e-01;DP=36;ExcessHet=0.6695;FS=3.979;MLEAC=3,3;MLEAF=0.375,0.375;MQ=60.00;MQRankSum=0.00;QD=7.92;ReadPosRankSum=-6.740e-01;SOR=1.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,1,0:2:18:0|1:78602197_CCG_C:39,0,18,42,21,63:78602197	2	0	1	17
chr13	78602201	78602201	G	0	exonic	POU4F1	.	.	.	.	.	1471	16	0	12	23	47	0.428571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	41.11	33	chr13	78602201	.	G	C,*	41.11	.	AC=1,1;AF=0.167,0.167;AN=6;BaseQRankSum=-6.740e-01;DP=33;ExcessHet=0.9691;FS=3.979;MLEAC=3,3;MLEAF=0.500,0.500;MQ=60.00;MQRankSum=0.00;QD=8.22;ReadPosRankSum=-6.740e-01;SOR=1.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,1,0:2:18:0|1:78602197_CCG_C:39,0,18,42,21,63:78602197	1	0	1	18
chr13	79337172	79337172	T	C	exonic	RBM26	.	nonsynonymous SNV	RBM26:NM_001286632:exon18:c.A2591G:p.H864R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.993	D	0.977	D	0.000	D	1.000	D	0.975	L	0.91	T	-0.907	T	0.171	T	0.834	4.570	24.8	4.89	1.948	7.651	14.794	0.421	0.0425204934848	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1031952341	3.42e-06	3.42e-06	2.722e-06	4.125e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.49117	T	0.386	0.32040	T	0.902	0.49745	P	0.677	0.53365	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.605	0.40863	L	0.9	0.46028	T	-4.78	0.80510	D	0.849	0.91621	-0.9070	0.47215	T	0.171	0.51165	T	9	0.65525126	0.69836	D	0.04252	0.60504	D	0.421	0.73005	0.564	0.68499	0.769794169845	0.76768	0.5742796791888795	0.57356	1.39510571996	0.85073	0.844747304916	0.88818	D	0.091797	0.63653	T	0.139107	0.68241	D	-0.0224729	0.68866	D	0.971723794937134	0.69426	D	0.977502	0.99425	D	0.4517118	0.64149	0.38821518	0.63670	0.4517118	0.64150	0.38821518	0.63670	-8.66	0.65484	D	.	.	0.349	0.71484	A	.;.;.;.;.	.;.;.;.;.	4.482160	0.69940	25.4	0.99790166288063198	0.87572	0.98625	0.84843	D	AEFDBI	0.897506	0.83976	D	0.456453024517233	0.64569	4.714573	0.502891434897935	0.68187	5.185252	0.999999999317712	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.89	4.89	0.63387	7.604000	0.82059	7.854000	0.71106	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.794	0.69493	777	0.48198	RBM26-like, RNA recognition motif 2;.;RBM26-like, RNA recognition motif 2;.;RBM26-like, RNA recognition motif 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2515.98	39	chr13	79337172	.	T	C	2515.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.586;DP=911;ExcessHet=0.0000;FS=1.728;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=-1.101e+00;SOR=0.829	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr13	85794314	85794314	C	T	exonic	SLITRK6	.	nonsynonymous SNV	SLITRK6:NM_032229:exon2:c.G2195A:p.G732E,	Deafness and myopia, Autosomal recessive	.	420	1096	6	0	0	6	0.00272975	.	.	504604	SLITRK6-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.39	T	0.09	B	0.038	B	0.002	U	0.999	D	0.345	N	0.53	T	-1.094	T	0.063	T	0.348	1.998	12.64	4.13	0.822	5.551	11.720	0.061	0.00989627189309	0.0073	0.00199681	0.0048	0.0019	0.0018	0	0.0050	0.0073	0.0078	0.0008	0.0048188	745	154602	rs74591375	0.0071	0.0071	0.0074	0.0069	0.0085	0.0070	0.0070	0.0084	0.0083	0.0025	0.0026	0.0021	0	0.0045	0.0036	0.0085	0.0057	0.0010	0.0054	0.0054	0.0058	0.0050	0.0084	0.0051	0.0050	0.0078	0.0076	0.0032	0	0.0034	0.0014	0	0.0041	0.0171	0.0084	0.0066	0.0008	0.588	0.05844	T	1.0	0.01155	T	0.09	0.25173	B	0.038	0.23361	B	0.001593	0.38554	U	0.169822	0.998573	0.45107	D	1.735	0.44892	L	0.53	0.55090	T	-0.03	0.07444	N	0.342	0.38335	-1.0938	0.04929	T	0.063	0.26279	T	10	0.007871985	0.00179	T	0.009896	0.25788	T	0.061	0.17616	.	.	0.734331791237	0.73196	0.12945554590267244	0.12870	0.0591815698512	0.06573	0.599845409393	0.52882	T	0.077565	0.35685	T	-0.417704	0.01770	T	-0.359805	0.38076	T	0.0185077129968375	0.00566	T	0.861714	0.55578	D	0.07820364	0.17795	0.11474935	0.27700	0.09180066	0.21519	0.11538226	0.27852	-2.862	0.08769	T	.	.	0.127	0.26978	B	.;.;.	.;.;.	3.727571	0.53306	23.3	0.98396764371508483	0.41020	0.96848	0.71267	D	AEFBI	0.799694	0.72588	D	-0.261908228998192	0.30631	1.709741	-0.0815979451378133	0.36151	2.100223	0.995934296147342	0.34418	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.84	4.13	0.47661	5.627000	0.67460	4.925000	0.46078	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.8728:0.0:0.1272	11.720	0.50940	973	0.05605	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1705.98	34	chr13	85794314	.	C	T	1705.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.48;DP=859;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=-1.820e-01;SOR=0.689	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr13	94601935	94601935	G	T	exonic	GPR180	.	nonsynonymous SNV	GPR180:NM_180989:exon1:c.G8T:p.G3V,	.	.	399	1120	3	0	0	3	0.00133749	.	.	2351463	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.0	B	0.001	B	0.094	N	0.943	D	1.79	L	0.85	T	-0.992	T	0.107	T	0.087	2.967	15.89	1.59	0.260	-0.028	5.508	0.087	0.0172968367489	.	.	0.0014	0	0.0036	0	0	0.0014	0	0.0017	0.0001682	26	154602	rs375711698	0.0002	0.0002	0.0001	0.0002	0.0021	0.0002	0.0001	0.0011	0.0008	3.603e-05	0.0002	4.26e-05	0	2.699e-05	0.0021	0.0001	0.0003	0.0009	0.0002	0.0002	0.0002	0.0002	0.0008	0.0002	0.0001	0.0003	0.0002	7.216e-05	0.0110	0.0003	0	0.0002	0	0	0.0002	0	0.0008	0.014	0.53172	D	0.0	0.92824	D	0.0	0.02946	B	0.001	0.04355	B	0.093860	0.20203	N	0.495430	0.943478	0.37411	D	1.085	0.27262	L	0.85	0.47130	T	1.8	0.00513	N	0.166	0.17553	-0.9917	0.32167	T	0.107	0.38906	T	10	0.007883549	0.00179	T	0.017297	0.38942	T	0.087	0.25287	0.398	0.42590	0.374255764437	0.37033	0.6217055932956875	0.62103	0.207151095459	0.23157	0.559364676476	0.47179	T	0.073757	0.34775	T	-0.440471	0.01285	T	-0.500569	0.22289	T	0.090799290804407	0.11313	T	0.653235	0.26349	T	0.09299486	0.21832	0.15992217	0.37274	0.09299486	0.21831	0.15992217	0.37273	-3.618	0.18118	T	.	.	0.075	0.05404	B	.	.	1.125843	0.15121	11.60	0.98118057488953137	0.38407	0.45318	0.27512	N	ALL	0.082104	0.16620	N	-0.558141523089289	0.20229	1.064868	-0.537852918632638	0.21128	1.141563	0.999999999967464	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	5.75	1.59	0.22622	-0.010000	0.12681	0.081000	0.14390	0.676000	0.76740	0.024000	0.20007	0.001000	0.17328	0.932000	0.46971	0.0719:0.3789:0.3984:0.1507	5.508	0.16158	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	95.98	18	chr13	94601935	.	G	T	95.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.878;DP=497;ExcessHet=0.0000;FS=2.141;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.57;ReadPosRankSum=2.81;SOR=0.781	GT:AD:DP:GQ:PL	0/0:31,0:31:87:0,87,1305	20	0	1	0
chr13	95071753	95071753	A	G	exonic	ABCC4	.	nonsynonymous SNV	ABCC4:NM_001301829:exon24:c.T2978C:p.V993A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.001	B	0.016	B	0.494	N	1.000	N	-0.04	N	-2.58	D	-0.740	T	0.391	T	0.18	-0.173	3.155	1.8	0.087	0.419	9.105	0.196	0.0304948526877	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.06441	T	0.661	0.06490	T	0.0	0.07471	B	0.002	0.17743	B	0.494220	0.12023	N	0.791203	0.999999	0.08975	N	-0.83	0.01527	N	-2.58	0.89757	D	-0.73	0.20576	N	0.14	0.13911	-0.7402	0.58442	T	0.391	0.74495	T	10	0.07028088	0.10203	T	0.030495	0.52796	D	0.196	0.47777	0.501	0.59304	0.49676076625	0.49313	0.5509914001817722	0.55025	0.282886675705	0.30743	0.289586246014	0.08862	T	0.069936	0.33835	T	-0.0781308	0.40017	T	-0.350006	0.39203	T	0.029093190379116	0.01851	T	0.736326	0.35686	T	0.03681319	0.04600	0.036177814	0.03012	0.03681319	0.04600	0.036177814	0.03012	-3.48	0.16153	T	.	.	0.097	0.15654	B	.;.;.	.;.;.	0.824553	0.11960	8.519	0.60077504894785361	0.06376	0.11424	0.16625	N	AEFBI	0.090708	0.18379	N	-0.971505487283006	0.09216	0.4352658	-0.908537755669423	0.11893	0.6086481	0.078834758398217	0.15800	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.54	1.8	0.24069	0.419000	0.20967	-0.022000	0.12912	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.806000	0.37994	0.7914:0.0:0.2086:0.0	9.105	0.35855	914	0.21048	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	49.98	57	chr13	95071753	.	A	G	49.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.269e+00;DP=954;ExcessHet=0.0000;FS=83.734;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.85;ReadPosRankSum=1.96;SOR=5.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,101,1523	20	0	1	0
chr13	95071754	95071754	C	G	exonic	ABCC4	.	nonsynonymous SNV	ABCC4:NM_001301829:exon24:c.G2977C:p.V993L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.0	B	0.001	B	0.494	N	1.000	N	0.345	N	-2.64	D	-0.626	T	0.471	T	0.14	0.513	6.782	1.81	0.025	0.035	9.310	0.132	0.0342729198354	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.11015	T	0.339	0.18071	T	0.0	0.02946	B	0.001	0.04355	B	0.494220	0.12023	N	0.791203	1	0.08975	N	0.435	0.12660	N	-2.64	0.90147	D	-0.15	0.09297	N	0.105	0.08925	-0.6258	0.63747	T	0.471	0.79626	T	10	0.07805991	0.12396	T	0.034273	0.55566	D	0.132	0.35948	0.485	0.56780	0.358134431457	0.35428	0.4198804795393688	0.41904	0.230426927568	0.25593	0.278424888849	0.07275	T	0.041417	0.25850	T	-0.115848	0.33804	T	-0.404184	0.32897	T	0.0274212304502726	0.01605	T	0.849315	0.53499	T	0.032567937	0.03308	0.043524764	0.05435	0.032567937	0.03307	0.043524764	0.05435	-4.601	0.32184	T	.	.	0.115	0.22969	B	.;.;.	.;.;.	0.389347	0.07609	4.271	0.89248120541506504	0.18635	0.10045	0.15658	N	AEFBI	0.104908	0.20977	N	-1.05022141143644	0.07583	0.3527565	-0.997032843454491	0.09851	0.4925799	0.0764562917017475	0.15728	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.54	1.81	0.24139	0.040000	0.13791	-0.710000	0.07754	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.800000	0.37734	0.0:0.5291:0.0:0.4709	9.310	0.37062	914	0.21048	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.03125	52.37	48	chr13	95071754	.	C	G	52.37	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-8.980e-01;DP=938;ExcessHet=0.0000;FS=212.131;InbreedingCoeff=-0.1065;MLEAC=1;MLEAF=0.031;MQ=60.00;MQRankSum=0.00;QD=0.89;ReadPosRankSum=1.48;SOR=7.742	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:41,0:41:0:.:.:0,0,889	15	0	1	5
chr13	95633288	95633288	C	A	exonic	DZIP1	.	nonsynonymous SNV	DZIP1:NM_014934:exon6:c.G631T:p.A211S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.84	T	0.778	P	0.28	B	0.000	D	0.943	N	-0.075	N	0.89	T	-1.058	T	0.046	T	0.099	2.149	13.14	5.08	2.530	3.459	12.115	0.170	0.00223617204554	.	.	0.0002	0	0.0011	0	0	9.043e-05	0.0011	0	0.0001294	20	154602	rs750389191	3.831e-05	3.831e-05	4.22e-05	3.438e-05	0.0014	3.025e-05	2.719e-05	0.0007	0.0005	0	0.0005	0	0	0	0.0014	1.529e-05	0.0001	0	1.97e-05	1.969e-05	2.57e-05	1.344e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.542e-05	0	0.0002	0	0	0	0.0005	0	0.787	0.05668	T	0.844	0.03569	T	0.778	0.44187	P	0.28	0.40294	B	0.000032	0.55875	D	0.160014	0.942852	0.26738	N	0.755	0.19153	N	0.89	0.45636	T	0.21	0.05035	N	0.145	0.15187	-1.0576	0.12362	T	0.046	0.19800	T	10	0.089390576	0.15480	T	0.002236	0.04233	T	0.170	0.43303	0.487	0.57098	0.666050317778	0.66323	0.08021744628669977	0.07956	0.139580379967	0.15735	0.442376255989	0.30902	T	0.031526	0.22080	T	-0.451359	0.01109	T	-0.575604	0.14939	T	0.0614076852798462	0.07389	T	0.778122	0.41194	T	0.08482213	0.19650	0.07145539	0.15304	0.08482213	0.19650	0.07145539	0.15303	-2.027	0.03284	T	.	.	0.138	0.30476	B	.;.;.;.	.;.;.;.	2.753311	0.36096	20.2	0.99299474979176294	0.58577	0.76982	0.37802	D	AEFBI	0.171169	0.29812	N	-0.0982473225363523	0.37468	2.180326	0.0876847057015311	0.43928	2.684497	0.999169216325452	0.38622	0.732398	0.92422	0	0.659912	0.62753	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	3.496000	0.53050	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.2894:0.7106:0.0:0.0	12.115	0.53162	858	0.34001	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1099.98	33	chr13	95633288	.	C	A	1099.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.742;DP=785;ExcessHet=0.0000;FS=1.743;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=0.067;SOR=0.990	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1164	20	0	1	0
chr13	95887914	95887914	G	A	exonic	UGGT2	.	nonsynonymous SNV	UGGT2:NM_020121:exon26:c.C3016T:p.L1006F,	.	.	445	1073	3	1	0	5	0.0023245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	1.0	D	1.0	D	0.000	D	1.000	D	3.275	M	1.36	T	-0.461	T	0.283	T	0.901	3.454	17.70	5.59	2.612	3.116	12.871	0.361	0.0280793600628	0.0003	0.000399361	0.0008	9.701e-05	0.0004	0	0.0005	0.0012	0	6.067e-05	0.0007244	112	154602	rs141853446	0.0006	0.0007	0.0006	0.0006	0.0023	0.0006	0.0006	0.0014	0.0011	0.0001	0.0005	0.0009	0	0.0015	0.0023	0.0006	0.0006	8.398e-05	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0005	0.0008	0.0008	4.816e-05	0	0.0004	0.0006	0	0.0008	0	0.0010	0.0005	0.0002	0.163	0.23450	T	0.203	0.27325	T	0.998	0.73220	D	0.979	0.74454	D	0.000000	0.84330	D	0.000000	0.99998	0.54805	D	3.705	0.94653	H	1.36	0.34452	T	-2.6	0.55983	D	0.822	0.81758	-0.4609	0.70037	T	0.283	0.65537	T	10	0.25013167	0.42335	T	0.028079	0.50806	D	0.361	0.68141	.	.	0.430808444494	0.42699	0.5904206122860818	0.58972	0.370996648256	0.38603	0.515715539455	0.41023	T	0.078003	0.35790	T	-0.0577358	0.43260	T	0.0987383	0.76824	D	0.164848393350054	0.18223	T	0.945605	0.79272	D	0.3399735	0.56278	0.26629084	0.52472	0.3399735	0.56278	0.26629084	0.52471	-7.559	0.58024	D	.	.	0.183	0.39647	B	.	.	4.460969	0.69433	25.4	0.99876724398169625	0.95328	0.94255	0.60587	D	AEFBI	0.562735	0.57021	D	0.801486621947207	0.86198	8.809319	0.740196990716399	0.85425	8.576072	0.963643064935643	0.28705	0.651	0.46895	0	0.601575	0.49859	0	0.65145	0.50148	0	0.655142	0.61905	0	.	.	5.59	5.59	0.84677	3.162000	0.50454	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.0745:0.0:0.9255:0.0	12.871	0.57351	898	0.25240	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1899.98	165	chr13	95887914	.	G	A	1899.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.780e-01;DP=2619;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=0.430;SOR=0.690	GT:AD:DP:GQ:PL	0/0:173,0:173:99:0,120,1800	20	0	1	0
chr13	98388393	98388393	A	G	exonic	FARP1	.	nonsynonymous SNV	FARP1:NM_001286839:exon9:c.A770G:p.K257R	.	.	427	1089	5	1	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.978	D	0.946	D	0.000	D	1.000	D	1.195	L	-2.37	D	0.245	D	0.712	D	0.8	4.596	25.0	6.17	2.371	5.026	16.822	0.641	0.0196571822119	.	0.00179712	0.0005	0	0	0	0	0	0	0.0040	0.0004981	77	154602	rs377370143	0.0003	0.0003	0.0001	0.0004	0.0040	0.0002	0.0002	0.0037	0.0035	0	0	0	0	0	0.0002	3.599e-06	0.0003	0.0040	0.0002	0.0002	8.991e-05	0.0003	0.0060	0.0001	0.0001	0.0043	0.0037	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0060	0.131	0.26629	T	0.106	0.37872	T	0.972	0.58756	D	0.93	0.68276	D	0.000001	0.84330	D	0.098149	0.999999	0.58761	D	0.995	0.25082	L	-2.37	0.88220	D	-2.5	0.54382	D	0.361	0.44761	0.245	0.86668	D	0.712	0.90123	D	10	0.01356113	0.00287	T	0.019657	0.42079	T	0.641	0.86333	0.57	0.69299	0.88651184042	0.88539	0.5971884973413503	0.59649	0.261867217747	0.28750	0.796956777573	0.81500	T	0.412578	0.76670	T	-0.0797785	0.39750	T	0.111789	0.77692	D	0.165178385141081	0.18246	T	0.89741	0.64114	D	0.18624766	0.40024	0.20436676	0.44557	0.18624766	0.40024	0.20436676	0.44556	-8.7	0.65746	D	.	.	0.066	0.02200	B	.;.;.;.	.;.;.;.	3.793542	0.54616	23.5	0.99891820965933098	0.96589	0.96991	0.72062	D	AEFBI	0.821058	0.74170	D	0.506188301213716	0.67454	5.083932	0.567186499531613	0.72600	5.835691	0.999999639288345	0.74766	0.719381	0.83141	0	0.588015	0.36545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	5.021000	0.63843	7.075000	0.57453	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	16.822	0.85699	909	0.22467	FERM, C-terminal PH-like domain|FERM domain|FERM, C-terminal PH-like domain;FERM, C-terminal PH-like domain|FERM domain|FERM, C-terminal PH-like domain;FERM, C-terminal PH-like domain|FERM domain|FERM, C-terminal PH-like domain;FERM, C-terminal PH-like domain|FERM domain|FERM, C-terminal PH-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	878.98	33	chr13	98388393	.	A	G	878.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.664e+00;DP=778;ExcessHet=0.0000;FS=0.802;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.77;ReadPosRankSum=-1.099e+00;SOR=0.556	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1256	20	0	1	0
chr13	98521776	98521776	G	A	exonic	STK24	.	nonsynonymous SNV	STK24:NM_003576:exon1:c.C77T:p.T26M,	.	.	.	.	.	.	.	.	.	0.0002	0.014	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.063	B	0.038	B	.	.	1.000	D	0	N	-0.61	T	-0.998	T	0.139	T	0.151	0.033	4.183	1.59	0.487	1.300	6.040	0.063	0.16062451393	.	.	8.245e-06	9.617e-05	0	0	0	0	0	0	1.29e-05	2	154602	rs775447860	4.771e-06	5.612e-06	3.493e-06	5.839e-06	5.652e-05	1.27e-06	3.5e-07	9.5e-07	3.6e-07	5.652e-05	0	0	0	0	0	5.712e-06	0	0	6.581e-06	6.568e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.078	0.33923	T	0.105	0.38016	T	0.063	0.23376	B	0.038	0.23361	B	.	.	.	.	1	0.81001	D	0	0.06538	N	-0.61	0.71779	T	0.21	0.04776	N	0.171	0.18239	-0.9982	0.30423	T	0.139	0.45791	T	9	0.10951829	0.20433	T	0.160625	0.84059	D	0.063	0.18251	0.223	0.14665	0.494013581214	0.49034	0.267405203572658	0.26653	0.655370170623	0.58582	.	.	.	0.047857	0.27847	T	-0.222738	0.17621	T	-0.376196	0.36166	T	0.0869894420204776	0.10857	T	0.207979	0.02486	T	0.050053786	0.08985	0.0693039	0.14584	0.050053786	0.08984	0.0693039	0.14584	-5.266	0.39606	T	.	.	0.107	0.20078	B	.	.	1.704276	0.21705	15.31	0.80679826295799062	0.13317	0.42895	0.26979	N	AEFDBHCI	0.094839	0.19170	N	-0.762877655968355	0.14286	0.7103884	-0.674546069380328	0.17598	0.9364753	0.999731820994669	0.42341	0.421363	0.06395	0	0.550933	0.16991	0	0.37387	0.06007	3	0.613276	0.41899	0	.	.	2.8	1.59	0.22622	1.283000	0.32843	0.972000	0.23065	-0.124000	0.13482	0.994000	0.38300	0.998000	0.33993	0.113000	0.18872	0.0:0.0:0.2768:0.7232	6.040	0.18954	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1027.98	34	chr13	98521776	.	G	A	1027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=800;ExcessHet=0.0000;FS=2.642;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=0.939;SOR=0.674	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1204	20	0	1	0
chr13	98825922	98825922	G	A	exonic	DOCK9	.	nonsynonymous SNV	DOCK9:NM_001366681:exon45:c.C5042T:p.P1681L	.	.	.	.	.	.	.	.	.	.	.	2236499	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.41	T	0.0	B	0.0	B	0.000	N	1.000	N	0.14	N	2.54	T	-1.016	T	0.037	T	0.301	-0.056	3.730	0.278	0.117	0.700	3.074	0.041	0.0161613074226	8.4e-05	0.000599042	0.0003	0	0	0.0004	0	0.0004	0	0.0001	0.0001035	16	154602	rs62637595	8.79e-05	9.645e-05	8.771e-05	8.809e-05	0.0004	7.525e-05	6.952e-05	6.232e-05	2.573e-05	3.197e-05	2.613e-05	0.0030	2.801e-05	0	0.0004	2.779e-05	0.0002	1.331e-05	0.0001	0.0001	0.0001	0.0001	0.0004	7.086e-05	5.743e-05	6.837e-05	2.861e-05	2.406e-05	0	0	0.0023	0.0004	0	0	5.88e-05	0.0009	0	0.135	0.26192	T	0.315	0.19421	T	0.0	0.02946	B	0.0	0.01387	B	0.000307	0.00561	N	3.576190	0.999659	0.21009	N	.	.	.	2.45	0.15028	T	-0.86	0.23372	N	0.136	0.15609	-1.0162	0.24948	T	0.037	0.16029	T	10	0.0075272024	0.00171	T	0.016161	0.37278	T	0.041	0.10877	.	.	0.200294437569	0.19612	0.279444819643929	0.27857	0.309117059296	0.33229	0.31470939517	0.12620	T	.	.	.	-0.394243	0.02525	T	-0.607108	0.12221	T	0.0207726716374445	0.00777	T	0.727827	0.34232	T	.	.	.	.	.	.	.	.	-2.719	0.07464	T	.	.	0.081	0.08176	B	.;.	.;.	0.736300	0.11056	7.709	0.63100312726761887	0.07134	0.06362	0.12362	N	AEFDBHCI	0.031080	0.03251	N	-0.705280253398964	0.15872	0.8038222	-0.803400926539919	0.14413	0.7529659	0.999940969621926	0.47345	0.489673	0.17934	0	0.573888	0.26702	0	0.584781	0.30282	0	0.662433	0.64102	0	.	.	4.88	0.278	0.14925	0.725000	0.25638	1.344000	0.25758	0.618000	0.50648	0.012000	0.18695	0.764000	0.26647	0.037000	0.13953	0.3862:0.0:0.426:0.1877	3.074	0.05864	958	0.09170	.;Dedicator of cytokinesis, C-terminal|DHR-2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1060.98	33	chr13	98825922	.	G	A	1060.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.647;DP=783;ExcessHet=0.0000;FS=1.787;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=-3.550e-01;SOR=0.855	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1261	20	0	1	0
chr13	99970416	99970416	-	GGC	exonic	ZIC5	.	nonframeshift insertion	ZIC5:NM_033132:exon1:c.1259_1260insGCC:p.P424_A425insP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772098205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	10227.81	36	chr13	99970413	.	TGGC	T,TGGCGGC	10227.81	.	AC=11,3;AF=0.262,0.071;AN=42;BaseQRankSum=0.619;DP=1251;ExcessHet=2.0984;FS=0.000;InbreedingCoeff=-0.0714;MLEAC=11,3;MLEAF=0.262,0.071;MQ=60.00;MQRankSum=0.00;QD=21.22;ReadPosRankSum=0.351;SOR=0.664	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0,0:33:99:.:.:0,99,1062,99,1062,1062	9	2	7	0
chr13	99982727	99982727	G	A	exonic	ZIC2	.	nonsynonymous SNV	ZIC2:NM_007129:exon1:c.G663A:p.M221I,	Holoprosencephaly 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.949	P	0.921	D	0.000	D	1.000	D	2.095	M	0.99	T	-0.797	T	0.210	T	0.526	2.507	14.34	3.73	1.275	7.555	14.014	0.249	0.0159184047108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9e-07	6.84e-07	0	1.386e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.076	0.42614	T	0.949	0.53761	P	0.921	0.65636	D	0.000000	0.84330	D	0.000000	0.999973	0.53665	D	2.645	0.77386	M	0.99	0.41750	T	-0.79	0.21860	N	0.618	0.63374	-0.7967	0.55338	T	0.210	0.57041	T	10	0.57804793	0.65692	D	0.015918	0.36914	T	0.249	0.55752	0.404	0.43573	0.83317459961	0.83158	0.3345802821426066	0.33371	.	.	0.727138459682	0.71088	T	0.196354	0.55270	T	-0.028008	0.47707	T	-0.278008	0.47008	T	0.948795557022095	0.62972	D	0.922708	0.71908	D	0.39119276	0.60117	0.36198837	0.61613	0.39119276	0.60117	0.36198837	0.61612	-6.914	0.53403	T	.	.	0.743	0.74756	P	.	.	5.261154	0.88341	29.6	0.98257091433298727	0.39630	0.96662	0.70275	D	AEFDGBHCI	0.905015	0.85602	D	0.382278794840422	0.60462	4.235318	0.351322377151365	0.58589	4.03016	0.999999999966364	0.74766	0.542737	0.22433	0	0.596491	0.49125	0	0.685571	0.62057	0	0.63947	0.58350	0	.	.	4.59	3.73	0.41982	9.937000	0.98857	11.686000	0.94288	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.8473:0.1527	14.014	0.64028	602	0.67834	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	123.1	36	chr13	99982727	.	G	A	123.1	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.533e+00;DP=1408;ExcessHet=0.0000;FS=321.761;InbreedingCoeff=-0.0318;MLEAC=1;MLEAF=0.024;MQ=59.97;MQRankSum=0.00;QD=0.95;ReadPosRankSum=0.618;SOR=8.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1223	20	0	1	0
chr13	100368479	100368479	G	T	exonic	PCCA	.	nonsynonymous SNV	PCCA:NM_001352608:exon17:c.G1429T:p.V477F	Propionicacidemia, Autosomal recessive	.	35	1422	60	5	0	70	0.024022	.	.	47470	Propionic_acidemia|not_specified|not_provided	Human_Phenotype_Ontology:HP:0003571,MONDO:MONDO:0011628,MedGen:C0268579,OMIM:606054,Orphanet:35|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.71	T	0.072	B	0.059	B	0.001	D	1.000	N	0.69	N	-1.19	T	-0.954	T	0.166	T	0.756	-0.778	0.737	-1.81	-0.531	-0.247	13.543	0.042	.	0.0061	0.00279553	0.0077	0.0020	0.0058	0.0001	0.0020	0.0106	0.0099	0.0070	0.007846	1213	154602	rs61749895	0.0088	0.0091	0.0087	0.0090	0.0362	0.0087	0.0086	0.0322	0.0306	0.0020	0.0081	0.0100	0	0.0027	0.0362	0.0096	0.0098	0.0068	0.0070	0.0070	0.0066	0.0074	0.0128	0.0066	0.0065	0.0113	0.0107	0.0019	0	0.0128	0.0110	0	0.0023	0.0411	0.0096	0.0157	0.0054	0.51	0.50676	T	0.706	0.54541	T	0.072	0.23997	B	0.059	0.26602	B	0.000666	0.42516	D	0.092028	0.999897	0.19781	N	1.245	0.31408	L	-1.19	0.78427	T	-1.24	0.41428	N	0.253	0.29313	-0.9538	0.40310	T	0.166	0.50486	T	10	0.0050973594	0.00110	T	.	.	.	0.495	0.78036	.	.	0.237489013734	0.23353	0.5414792096076211	0.54072	0.18749610879	0.21068	0.274469137192	0.06733	T	0.405477	0.76164	T	-0.220797	0.17884	T	-0.0795484	0.64938	T	0.002613999720297	0.00027	T	0.686231	0.31753	T	0.10194706	0.24085	0.08496319	0.19583	0.09695565	0.22845	0.07956249	0.17920	-3.107	0.13455	T	0.09290950936720156	0.06056	0.096	0.15385	B	.;.;.;.	.;.;.;.	0.493760	0.08630	5.399	0.58896346874019345	0.06098	0.25735	0.22787	N	AEFGBI	0.246318	0.36709	N	-1.39697904296976	0.02667	0.1180743	-1.37944493398146	0.03472	0.1620144	0.93334498371539	0.27125	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.77	-1.81	0.07456	-0.163000	0.09986	-0.136000	0.11567	-0.678000	0.04252	0.706000	0.28683	0.000000	0.08366	0.310000	0.24737	0.2295:0.0:0.7705:0.0	13.543	0.61143	892	0.26670	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	649.98	37	chr13	100368479	.	G	T	649.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.136e+00;DP=822;ExcessHet=0.0000;FS=2.477;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=2.30;SOR=0.343	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr13	101229452	101229452	T	C	exonic	NALCN	.	nonsynonymous SNV	NALCN:NM_001350750:exon12:c.A1480G:p.I494V	Congenital contractures of the limbs and face, hypotonia, and developmental delay, Autosomal dominant;Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, Autosomal recessive	.	436	1083	3	0	0	3	0.00138313	.	.	688095	NALCN-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.52	T	0.976	D	0.875	P	0.000	D	1.000	D	1.945	M	-5.15	D	1.081	D	0.948	D	0.657	4.151	21.4	5.11	2.051	5.817	15.204	0.706	0.203082842531	0.0008	0.000998403	0.0009	9.636e-05	0.0002	0	0.0003	0.0008	0	0.0026	0.0008085	125	154602	rs150580612	0.0010	0.0010	0.0009	0.0010	0.0027	0.0009	0.0009	0.0024	0.0023	0.0003	0.0002	0.0018	0	7.503e-05	0.0010	0.0010	0.0005	0.0027	0.0007	0.0007	0.0007	0.0007	0.0039	0.0006	0.0005	0.0026	0.0021	0.0002	0	0.0007	0.0023	0	9.411e-05	0	0.0008	0.0014	0.0039	0.127	0.27080	T	0.059	0.45961	T	0.844	0.46645	P	0.487	0.47260	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.765	0.45800	L	-5.15	0.98780	D	-0.76	0.21215	N	0.298	0.33687	1.081	0.98897	D	0.948	0.98304	D	10	0.029141307	0.01042	T	0.203083	0.86856	D	0.706	0.89468	.	.	0.656282026865	0.65341	0.8310535477586223	0.83064	1.44831164804	0.86095	0.772632420063	0.77819	T	0.570596	0.85775	D	-0.0437868	0.45385	T	0.158779	0.80731	D	0.0782595872879028	0.09763	T	0.859414	0.55137	D	0.4287164	0.62668	0.18756512	0.41996	0.4287164	0.62668	0.18756512	0.41996	-6.254	0.48357	T	0.1940211725228592	0.25550	0.085	0.10014	B	.	.	2.763301	0.36248	20.2	0.99908907371128663	0.97875	0.94094	0.60094	D	AEFCI	0.825769	0.74539	D	0.460024203052514	0.64773	4.739669	0.482445924414965	0.66829	5.003072	0.999999993106766	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.11	5.11	0.69188	5.773000	0.68552	2.847000	0.35116	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.0:0.0:0.0:1.0	15.204	0.72849	860	0.33753	Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2487.08	35	chr13	101229452	.	T	C	2487.08	.	AC=2;AF=0.048;AN=42;DP=852;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=27.94;SOR=1.022	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1174	20	1	0	0
chr13	102618836	102618836	G	A	exonic	TPP2	.	nonsynonymous SNV	TPP2:NM_001330588:exon5:c.G610A:p.E204K	.	.	.	.	.	.	.	.	.	.	.	936326	Evans_syndrome,_immunodeficiency,_and_premature_immunosenescence_associated_with_tripeptidyl-peptidase_II_deficiency	MedGen:CN231723	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.6	T	0.557	P	0.064	B	0.000	D	1.000	D	1.04	L	-2.33	D	-0.268	T	0.441	T	0.477	3.382	17.41	5.69	2.682	7.581	19.813	0.409	0.0644571615191	.	.	3.297e-05	0	0	0	0	4.499e-05	0	6.069e-05	2.59e-05	4	154602	rs759851788	2.132e-05	2.531e-05	1.642e-05	2.628e-05	0.0003	1.528e-05	1.331e-05	7.275e-05	5.592e-05	0	0	0	0	0	0.0003	1.532e-05	1.665e-05	0.0001	1.971e-05	1.97e-05	1.285e-05	2.69e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.189	0.23360	T	0.538	0.09897	T	0.557	0.38282	P	0.064	0.27215	B	0.000083	0.51296	D	0.168937	0.999999	0.58761	D	1.21	0.30464	L	-2.33	0.87910	D	-1.49	0.36385	N	0.424	0.47301	-0.2682	0.75860	T	0.441	0.77890	T	10	0.28983057	0.46564	T	0.064457	0.69281	D	0.409	0.72099	0.554	0.67133	0.419361210318	0.41555	0.6382657579950564	0.63760	0.900146455549	0.70606	0.592943906784	0.51910	T	0.184455	0.53712	T	0.0400844	0.57058	T	-0.0749123	0.65273	T	0.319382503180693	0.25797	T	0.976802	0.91949	D	0.102047496	0.24109	0.17594111	0.40094	0.102047496	0.24109	0.17594111	0.40093	-8.815	0.66499	D	.	.	0.085	0.09965	B	.;.	.;.	3.944466	0.57739	23.9	0.99803104992907909	0.88728	0.98741	0.86258	D	AEFDGBI	0.868347	0.78844	D	0.166028158347269	0.49572	3.156211	0.327310625982648	0.57150	3.879862	0.999999999999787	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.69	5.69	0.88346	7.701000	0.83543	11.736000	0.95093	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.0:1.0:0.0	19.813	0.96552	948	0.11499	Peptidase S8/S53 domain|Tripeptidyl-peptidase II domain;Peptidase S8/S53 domain|Tripeptidyl-peptidase II domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1440.98	33	chr13	102618836	.	G	A	1440.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.047;DP=823;ExcessHet=0.0000;FS=4.315;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=-5.410e-01;SOR=1.107	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1284	20	0	1	0
chr13	102690880	102690880	C	G	exonic	METTL21C	.	nonsynonymous SNV	METTL21C:NM_001010977:exon2:c.G215C:p.R72P,	.	.	430	1039	51	2	0	55	0.0257853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.431	B	0.071	B	0.025	N	1.000	N	0.55	N	2.51	T	-1.035	T	0.013	T	0.11	1.590	11.27	-4.69	-0.770	-0.991	3.606	0.047	.	0.0071	0.00359425	0.0100	0.0012	0.0016	0.0001	0.0204	0.0113	0.0165	0.0170	0.0094501	1461	154602	rs149948690	0.0092	0.0092	0.0088	0.0096	0.0190	0.0091	0.0090	0.0182	0.0179	0.0014	0.0020	0.0036	2.519e-05	0.0190	0.0147	0.0090	0.0089	0.0190	0.0065	0.0065	0.0061	0.0070	0.0155	0.0062	0.0061	0.0127	0.0117	0.0018	0.0187	0.0021	0.0040	0	0.0158	0.0068	0.0089	0.0043	0.0155	0.197	0.20607	T	0.197	0.27855	T	0.431	0.35606	B	0.071	0.27960	B	0.025462	0.01631	N	1.963520	1	0.08975	N	1.04	0.26193	L	2.51	0.14284	T	-1.77	0.41809	N	0.291	0.32921	-1.0349	0.18888	T	0.013	0.04843	T	10	0.0050058663	0.00108	T	.	.	.	0.047	0.12962	.	.	.	.	0.7297983950850847	0.72924	0.113194095826	0.12776	0.194922536612	0.00325	T	0.021721	0.16866	T	-0.693516	0.00040	T	-0.754684	0.03307	T	0.00500844983931811	0.00054	T	0.493251	0.15238	T	0.81374246	0.84801	0.3472523	0.60382	0.81374246	0.84803	0.3472523	0.60381	-7.212	0.55568	T	.	.	0.344	0.56185	A	.	.	0.401928	0.07729	4.411	0.94050410969188059	0.24177	0.07920	0.13907	N	AEFBCI	0.143530	0.26625	N	-1.06908644187949	0.07219	0.3346629	-1.10916156895534	0.07524	0.3663372	0.999367551965747	0.39301	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.16	-4.69	0.03061	-1.033000	0.03682	-2.694000	0.03459	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.973000	0.55318	0.1814:0.4624:0.0807:0.2755	3.606	0.07586	942	0.12992	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4203.08	34	chr13	102690880	.	C	G	4203.08	.	AC=2;AF=0.048;AN=42;DP=834;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.39;SOR=0.794	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1321	20	1	0	0
chr13	102736808	102736808	A	T	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.T13889A:p.M4630K,	.	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.615	P	0.241	B	0.366	N	1.000	N	.	.	3.78	T	-0.970	T	0.002	T	0.48	1.026	9.190	-1.42	-0.246	-0.495	7.263	0.091	.	.	0.00978435	0.0024	0	0.0024	0.0482	0	0.0005	0	0.0016	0.0008797	136	154602	rs117984168	0.0020	0.0020	0.0020	0.0020	0.0573	0.0020	0.0019	0.0553	0.0544	0	0.0006	0.0006	0.0573	0.0071	0.0007	0.0002	0.0018	0.0015	0.0024	0.0024	0.0018	0.0031	0.0460	0.0022	0.0021	0.0412	0.0393	0	0	0.0006	0.0012	0.0460	0.0075	0	0.0004	0.0009	0.0017	.	.	.	0.057	0.46406	T	.	.	.	.	.	.	0.365894	0.13600	N	0.608106	0.999634	0.20820	N	.	.	.	.	.	.	.	.	.	0.442	0.48042	-0.9696	0.37283	T	0.002	0.00526	T	9	0.002716124	0.00042	T	.	.	.	0.091	0.26358	.	.	0.0138822411134	0.00435	0.051300353339956466	0.05072	.	.	0.312669038773	0.12310	T	.	.	.	-0.450466	0.01122	T	-0.380363	0.35679	T	0.0162458400719084	0.00397	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.26762	B	.	.	-0.515909	0.01816	0.143	0.77338607226265654	0.11834	0.05805	0.11742	N	AEFBI	0.010470	0.00075	N	-0.912488897186837	0.10549	0.5046269	-1.08442591907269	0.08007	0.3918232	0.937550014474001	0.27302	0.516011	0.20929	0	0.610034	0.51514	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.77	-1.42	0.08446	-0.615000	0.05693	-0.229000	0.10694	-0.070000	0.16343	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5555:0.0:0.4445:0.0	7.263	0.25390	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1785.98	63	chr13	102736808	.	A	T	1785.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.69;DP=2032;ExcessHet=0.0000;FS=3.441;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.25;ReadPosRankSum=0.912;SOR=0.861	GT:AD:DP:GQ:PL	0/1:124,69:193:99:1800,0,3508	20	0	1	0
chr13	102737376	102737376	T	C	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.A13321G:p.T4441A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1349615211	5.004e-06	4.788e-06	1.411e-06	8.697e-06	6.49e-06	2.08e-06	1.34e-06	2.7e-06	1.74e-06	0	0	0	0	0	0	6.49e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.53788	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.18103	.	.	.	.	.	.	.	0.07948971	0.12792	T	.	.	.	.	.	.	.	0.0551355673512	0.04727	0.17064589429139118	0.16984	.	.	0.253619462252	0.04158	T	.	.	.	-0.159419	0.26850	T	-0.466771	0.25865	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.23883	B	.	.	-0.055839	0.03912	0.863	0.49005871855230221	0.04137	0.01285	0.04481	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.999714237900827	0.42101	0.06567	0.01388	0	0.085267	0.02369	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0587091	0.14064	3.22	-5.7	0.02226	-0.774000	0.04790	-1.163000	0.06147	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.1083:0.6531:0.2386	8.284	0.31077	952	0.10565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3373.98	63	chr13	102737376	.	T	C	3373.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.487;DP=2090;ExcessHet=0.0000;FS=7.985;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.22;ReadPosRankSum=0.470;SOR=0.554	GT:AD:DP:GQ:PL	0/0:127,0:127:99:0,120,1800	20	0	1	0
chr13	102737670	102737670	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G13027C:p.V4343L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.296e-05	0.0009	1.28e-05	1.313e-05	3.19e-05	8.1e-06	6.68e-06	9.68e-06	7.91e-06	3.19e-05	0	0	0	0	0	1.589e-05	0	0	6.741e-06	1.989e-05	0	1.384e-05	1.492e-05	0	0	.	.	0	0	0	0	0	0	0	1.492e-05	0	0	.	.	.	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.16028	.	.	.	.	.	.	.	0.08621222	0.14631	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.08298472189106709	0.08233	.	.	0.344727694988	0.17142	T	.	.	.	-0.118802	0.33320	T	-0.408427	0.32407	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.43882	B	.	.	-0.018962	0.04151	0.996	0.36670154075650313	0.02372	0.03259	0.08291	N	AEFBI	.	.	.	.	.	.	.	.	.	0.929394545130418	0.26967	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0516762	0.10602	2.37	-0.837	0.10221	0.258000	0.18156	-2.744000	0.03406	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4159:0.0:0.5841	5.246	0.14815	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3125	1289.7	107	chr13	102737670	.	C	G	1289.7	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-5.420e+00;DP=3587;ExcessHet=6.1002;FS=265.418;InbreedingCoeff=-0.4269;MLEAC=12;MLEAF=0.375;MQ=60.00;MQRankSum=0.00;QD=0.67;ReadPosRankSum=1.50;SOR=12.784	GT:AD:DP:GQ:PL	0/1:161,53:214:99:215,0,3677	6	0	10	5
chr13	102737733	102737733	C	T	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G12964A:p.G4322S,	.	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	0.000399361	0.0025	0.0009	0	0	0	0.0027	0.0105	0.0029	0.0008667	134	154602	rs201135379	0.0037	0.0036	0.0037	0.0037	0.0043	0.0036	0.0036	0.0042	0.0042	0.0008	0.0008	0.0004	5.597e-05	0.0010	0.0009	0.0043	0.0029	0.0033	0.0022	0.0022	0.0025	0.0018	0.0039	0.0020	0.0019	0.0035	0.0034	0.0008	0	0.0005	0.0012	0	0.0003	0	0.0039	0.0009	0.0025	.	.	.	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.03841	.	.	.	.	.	.	.	0.0057035685	0.00127	T	.	.	.	.	.	.	.	0.0551355673512	0.04727	0.07433698046328129	0.07369	.	.	0.245546251535	0.03313	T	.	.	.	-0.488312	0.00664	T	-0.472974	0.25198	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.20625	B	.	.	0.196141	0.05818	2.257	0.37996960343091668	0.02537	0.00402	0.02007	N	AEFBI	.	.	.	.	.	.	.	.	.	0.940105724638575	0.27417	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0510869	0.10242	1.82	-1.19	0.09091	0.044000	0.13876	-6.220000	0.01461	-0.199000	0.08999	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2399:0.3529:0.2366:0.1706	0.697	0.00844	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2352.98	126	chr13	102737733	.	C	T	2352.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=2954;ExcessHet=0.0000;FS=0.541;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.72;ReadPosRankSum=1.09;SOR=0.767	GT:AD:DP:GQ:PL	0/0:154,0:154:99:0,120,1800	20	0	1	0
chr13	102738219	102738219	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G12478C:p.V4160L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.167e-05	0.0022	6.326e-05	3.979e-05	6.248e-05	4.177e-05	3.835e-05	5.038e-05	4.595e-05	0	2.807e-05	0	0	0	0	6.248e-05	3.499e-05	2.541e-05	1.334e-05	2.64e-05	1.303e-05	1.368e-05	1.486e-05	2.22e-06	8.3e-07	.	.	0	0	0	0	0	9.686e-05	0	1.486e-05	0	0	.	.	.	0.068	0.44106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.19459	.	.	.	.	.	.	.	0.09865704	0.17852	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.022759760475440007	0.02227	.	.	0.381038725376	0.22403	T	.	.	.	-0.129836	0.31521	T	-0.424277	0.30586	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.56507	A	.	.	0.179806	0.05674	2.123	0.42346026630768363	0.03115	0.07449	0.13466	N	AEFBI	.	.	.	.	.	.	.	.	.	0.921212253802681	0.26663	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0512898	0.10407	3.08	0.322	0.15131	1.882000	0.39283	-0.398000	0.09429	0.454000	0.21428	0.029000	0.20367	0.000000	0.08366	0.017000	0.10941	0.0:0.5804:0.0:0.4196	5.169	0.14429	951	0.11083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2778	1299.96	159	chr13	102738219	.	C	G	1299.96	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-5.434e+00;DP=4225;ExcessHet=6.1002;FS=289.047;InbreedingCoeff=-0.4256;MLEAC=12;MLEAF=0.333;MQ=59.99;MQRankSum=0.00;QD=0.69;ReadPosRankSum=2.11;SOR=11.733	GT:AD:DP:GQ:PL	./.:194,0:194:0:0,0,4166	8	0	10	3
chr13	102740391	102740391	G	A	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.C10306T:p.R3436W,	.	.	424	1046	49	3	0	55	0.0256171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061901	0.0157	0.0023	0	0	0	0.0072	0.0105	0.0306	0.0032794	507	154602	rs117074021	0.0094	0.0090	0.0087	0.0101	0.0299	0.0092	0.0092	0.0289	0.0285	0.0015	0.0038	0.0013	2.8e-05	0.0058	0.0208	0.0088	0.0099	0.0299	0.0060	0.0060	0.0063	0.0057	0.0237	0.0057	0.0055	0.0202	0.0188	0.0016	0	0.0042	0.0009	0.0004	0.0044	0.0238	0.0088	0.0043	0.0237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	0.0030212104	0.00049	T	.	.	.	.	.	.	.	.	.	0.0961978917482667	0.09551	.	.	0.254358440638	0.04241	T	.	.	.	-0.526409	0.00403	T	-0.507297	0.21594	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.27880	B	.	.	1.077765	0.14608	11.17	0.57589132933474618	0.05803	0.00835	0.03355	N	AEFBI	.	.	.	.	.	.	.	.	.	0.799362739752337	0.24158	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0503841	0.09711	3.58	1.15	0.19876	-0.032000	0.12217	-0.419000	0.09297	-0.785000	0.03297	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1956:0.0:0.2288:0.5756	4.231	0.10056	951	0.11083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2439.98	108	chr13	102740391	.	G	A	2439.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.63;DP=2353;ExcessHet=0.0000;FS=1.819;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=-9.100e-01;SOR=0.569	GT:AD:DP:GQ:PL	0/0:113,0:113:99:0,120,1800	20	0	1	0
chr13	102743025	102743025	T	C	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.A7672G:p.K2558E,	.	.	434	1083	5	0	0	5	0.00230309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0016	0	0	0	0	0	0.0053	0.0038	0.0002329	36	154602	rs557166940	0.0003	0.0003	0.0002	0.0004	0.0043	0.0003	0.0002	0.0040	0.0038	3.19e-05	2.83e-05	0	0	0	0.0009	1.114e-05	0.0004	0.0043	0.0001	0.0001	6.433e-05	0.0001	0.0027	6.516e-05	5.326e-05	0.0016	0.0013	0	0	0	0	0	0	0.0034	2.945e-05	0	0.0027	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	0.23380	.	.	.	.	.	.	.	0.0046256483	0.00096	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.03275793085580121	0.03223	.	.	0.257341712713	0.04580	T	.	.	.	-0.429929	0.01483	T	-0.389386	0.34623	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.27313	B	.	.	0.215566	0.05988	2.426	0.7551545675533613	0.11105	0.00922	0.03585	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.942100788448421	0.27507	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0541152	0.12225	3.07	-1.09	0.09397	-0.161000	0.10014	-0.534000	0.08619	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.072000	0.16771	0.0:0.4145:0.0:0.5855	5.898	0.18192	943	0.12886	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2501.98	112	chr13	102743025	.	T	C	2501.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.610e-01;DP=2468;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.98;ReadPosRankSum=1.28;SOR=0.740	GT:AD:DP:GQ:PL	0/0:114,0:114:99:0,120,1800	20	0	1	0
chr13	102747411	102747411	G	T	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.C3286A:p.P1096T,	.	.	437	1030	54	1	0	56	0.026465	.	.	2814000	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0059	0.00119808	0.0067	0.0010	0.0049	0	0.0294	0.0077	0.0161	0.0075	0.0017982	278	154602	rs143261898	0.0064	0.0061	0.0063	0.0065	0.0172	0.0063	0.0062	0.0145	0.0135	0.0011	0.0044	0.0057	2.801e-05	0.0049	0.0172	0.0069	0.0068	0.0057	0.0046	0.0046	0.0045	0.0046	0.0069	0.0043	0.0042	0.0063	0.0061	0.0013	0.0022	0.0040	0.0049	0.0006	0.0055	0.0170	0.0069	0.0071	0.0033	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.08925	.	.	.	.	.	.	.	0.0028288662	0.00045	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.03888631661266264	0.03834	.	.	0.26743721962	0.05809	T	.	.	.	-0.488708	0.00660	T	-0.467949	0.25737	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.41480	B	.	.	0.562261	0.09308	6.089	0.7472471519397319	0.10803	0.03453	0.08599	N	AEFBI	.	.	.	.	.	.	.	.	.	0.98821201155232	0.31445	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.111679	0.23776	4.56	-4.59	0.03158	-0.246000	0.08896	-1.417000	0.05489	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.769000	0.36481	0.226:0.1078:0.1881:0.4781	1.570	0.02455	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1645.98	107	chr13	102747411	.	G	T	1645.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.077e+00;DP=2064;ExcessHet=0.0000;FS=2.241;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.76;ReadPosRankSum=-1.079e+00;SOR=0.937	GT:AD:DP:GQ:PL	0/0:105,0:105:99:0,120,1800	20	0	1	0
chr13	102747739	102747739	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G2958C:p.K986N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.50809	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.03841	.	.	.	.	.	.	.	0.071324736	0.10499	T	.	.	.	.	.	.	.	0.0716867268079	0.06686	0.029755569922110755	0.02924	.	.	0.339609414339	0.16379	T	.	.	.	-0.183105	0.23276	T	-0.500794	0.22266	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.484	0.63867	A	.	.	2.482158	0.32012	18.91	0.76786657609047815	0.11609	0.06593	0.12608	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.974835266602416	0.29578	0.07523	0.01759	0	0.085267	0.02369	0	0.063197	0.01477	0	0.091162	0.02695	0	0.166294	0.28576	4.21	2.49	0.29274	0.370000	0.20166	-0.592000	0.08316	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.974000	0.55675	0.0:0.7826:0.0:0.2174	6.417	0.20924	939	0.14249	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2727	319.73	161	chr13	102747739	.	C	G,T	319.73	.	AC=3,3;AF=0.136,0.136;AN=22;BaseQRankSum=-5.526e+00;DP=4353;ExcessHet=1.7912;FS=296.348;InbreedingCoeff=-0.3527;MLEAC=4,4;MLEAF=0.182,0.182;MQ=60.00;MQRankSum=0.00;QD=0.21;ReadPosRankSum=1.04;SOR=13.436	GT:AD:DP:GQ:PL	0/1:147,62,37:246:91:91,0,3286,211,3146,3557	5	0	3	10
chr13	102747867	102747867	T	C	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.A2830G:p.I944V,	.	.	427	1077	18	0	0	18	0.00828729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000998403	0.0018	0	0	0	0	0.0006	0	0.0039	0.0002652	41	154602	rs184757542	0.0004	0.0003	0.0003	0.0005	0.0038	0.0003	0.0003	0.0034	0.0033	0	8.404e-05	0.0005	0	0	0.0014	0.0001	0.0006	0.0038	0.0002	0.0002	0.0001	0.0003	0.0031	0.0002	0.0001	0.0019	0.0015	0	0	6.543e-05	0.0006	0	0	0	0.0002	0.0005	0.0031	.	.	.	0.026	0.55759	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.03069	.	.	.	.	.	.	.	0.003666699	0.00067	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.010117399996744528	0.00973	.	.	0.326439380646	0.14396	T	.	.	.	-0.413216	0.01893	T	-0.367806	0.37144	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.22061	B	.	.	0.602173	0.09706	6.476	0.80720348469929903	0.13336	0.02668	0.07289	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.933568732654395	0.27135	0.07523	0.01759	0	0.063388	0.01293	0	0.063197	0.01477	0	0.091162	0.02695	0	0.123341	0.25004	4.21	0.215	0.14529	0.335000	0.19546	0.039000	0.13841	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.420000	0.27228	0.1835:0.2067:0.0:0.6098	2.913	0.05393	939	0.14249	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3817.98	147	chr13	102747867	.	T	C	3817.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.100e-02;DP=3320;ExcessHet=0.0000;FS=0.930;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.19;ReadPosRankSum=2.03;SOR=0.676	GT:AD:DP:GQ:PL	0/0:165,0:165:99:0,120,1800	20	0	1	0
chr13	102807511	102807511	A	G	exonic	BIVM;BIVM-ERCC5	.	nonsynonymous SNV	BIVM-ERCC5:NM_001204425:exon1:c.A244G:p.I82V	.	.	7	1501	14	0	0	14	0.00464191	.	.	1678566	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.74	T	0.005	B	0.006	B	0.003	N	1.000	D	0	N	.	.	-1.059	T	0.029	T	0.1	0.929	8.784	-1.0	-0.318	0.150	1.398	0.018	.	0.0084	0.00159744	0.0054	0.0011	0.0022	0	0.0015	0.0087	0.0033	0.0018	0.0054592	844	154602	rs41281670	0.0083	0.0083	0.0085	0.0082	0.0101	0.0082	0.0082	0.0099	0.0099	0.0016	0.0024	0.0036	2.519e-05	0.0026	0.0024	0.0101	0.0061	0.0024	0.0057	0.0057	0.0061	0.0052	0.0101	0.0054	0.0052	0.0095	0.0092	0.0016	0.0055	0.0026	0.0026	0	0.0030	0	0.0101	0.0052	0.0029	0.735	0.03753	T	0.912	0.02943	T	0.0	0.02946	B	0.0	0.01387	B	0.002807	0.35900	N	0.271361	1	0.81001	D	0.255	0.09829	N	.	.	.	-0.03	0.07444	N	0.064	0.03613	-1.0592	0.11956	T	0.029	0.12365	T	9	0.0057371855	0.00128	T	.	.	.	0.018	0.03083	.	.	0.0806252709748	0.07271	0.13522124392487372	0.13446	0.226095506065	0.25162	.	.	.	0.011021	0.09882	T	-0.563728	0.00241	T	-0.574857	0.15007	T	0.000305893333929741	0.00002	T	0.619338	0.23774	T	0.012635825	0.00038	0.017487643	0.00033	0.012635825	0.00038	0.017487643	0.00033	-3.277	0.13442	T	.	.	0.062	0.02118	B	.;.;.	.;.;.	0.309887	0.06852	3.380	0.58294768230434069	0.05961	0.17355	0.19801	N	AEFDGBCI	0.080878	0.16358	N	-1.20503349960395	0.04925	0.2233756	-1.04527553931637	0.08805	0.4347713	0.99998798030355	0.51787	0.732398	0.92422	0	0.709663	0.81188	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.96	-1.0	0.09675	0.157000	0.16219	0.811000	0.21752	-0.064000	0.16601	0.224000	0.24579	0.499000	0.25194	0.996000	0.76049	0.4952:0.102:0.1905:0.2123	1.398	0.02128	918	0.19598	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3127.98	34	chr13	102807511	.	A	G	3127.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.580e-01;DP=951;ExcessHet=0.0000;FS=2.754;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.31;ReadPosRankSum=1.25;SOR=0.682	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1265	20	0	1	0
chr13	103065903	103065903	G	A	exonic	SLC10A2	.	nonsynonymous SNV	SLC10A2:NM_000452:exon1:c.C347T:p.A116V,	Bile acid malabsorption, primary, Autosomal recessive	.	2	1517	3	0	0	3	0.000987817	.	.	587007	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.218	B	0.386	B	0.000	D	0.954	D	1.68	L	2.71	T	-1.068	T	0.064	T	0.497	4.136	21.3	5.25	2.451	4.340	18.848	0.118	0.00937433452292	.	.	0.0001	0	0	0	0	0.0002	0	0	9.06e-05	14	154602	rs201133082	7.798e-05	7.867e-05	8.031e-05	7.563e-05	0.0002	6.6e-05	6.142e-05	7.509e-05	7e-05	0	8.944e-05	0	0	0	0.0002	8.993e-05	0.0001	0	9.204e-05	9.194e-05	6.425e-05	0.0001	0.0001	5.53e-05	4.367e-05	7.909e-05	5.995e-05	2.415e-05	0	0.0001	0	0	0	0	0.0001	0.0005	0	0.148	0.24857	T	0.014	0.62352	D	0.218	0.30213	B	0.386	0.44011	B	0.000004	0.62929	D	0.109014	0.954412	0.37876	D	1.32	0.33002	L	2.71	0.12055	T	-1.21	0.30762	N	0.341	0.38232	-1.0681	0.09836	T	0.064	0.26349	T	10	0.2639717	0.43881	T	0.009374	0.24577	T	0.118	0.32913	.	.	0.412715890961	0.40891	0.9606908300031071	0.96055	0.00748993395039	0.00659	0.589894115925	0.51479	T	0.107249	0.41929	T	-0.322468	0.06697	T	-0.441301	0.28663	T	0.150984638085202	0.17181	T	0.861714	0.55578	D	0.35305458	0.57303	0.3582552	0.61305	0.35305458	0.57303	0.3582552	0.61304	-8.897	0.67031	D	0.20046229666378013	0.26605	0.439	0.61669	A	.	.	3.697996	0.52727	23.3	0.99903418355282936	0.97502	0.93604	0.58673	D	AEFGBI	0.695617	0.65423	D	0.248855893032705	0.53582	3.526471	0.357611760761882	0.58967	4.070846	0.999999972075694	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.25	5.25	0.73169	5.244000	0.65222	11.789000	0.96319	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:1.0:0.0	18.848	0.92184	909	0.22467	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	681.98	37	chr13	103065903	.	G	A	681.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.352;DP=722;ExcessHet=0.0000;FS=3.432;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.43;ReadPosRankSum=2.27;SOR=1.528	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1305	20	0	1	0
chr13	103066104	103066104	A	G	exonic	SLC10A2	.	nonsynonymous SNV	SLC10A2:NM_000452:exon1:c.T146C:p.M49T,	Bile acid malabsorption, primary, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.984	D	0.925	D	0.000	D	1.000	D	3.19	M	2.62	T	-0.783	T	0.135	T	0.88	4.489	24.1	5.67	2.163	9.315	15.915	0.583	0.0736632301234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	0	5.501e-06	1.799e-06	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.003	0.76473	D	0.984	0.60733	D	0.925	0.65999	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.705	0.94653	H	2.62	0.12988	T	-4.48	0.77965	D	0.905	0.90590	-0.7834	0.56110	T	0.135	0.44933	T	10	0.94135237	0.93461	D	0.073663	0.71846	D	0.583	0.83249	0.803	0.92160	0.752207073155	0.74996	0.9897879241413202	0.98973	0.0202218398039	0.01983	0.614849150181	0.55001	T	0.255273	0.62604	T	0.206348	0.74486	D	0.058628	0.74155	D	0.996900320053101	0.90332	D	0.828317	0.49240	T	0.844878	0.86960	0.8750305	0.93215	0.844878	0.86961	0.8750305	0.93216	-13.005	0.89385	D	0.594891461000571	0.66175	0.87	0.80878	P	.	.	4.722987	0.75993	26.4	0.99472621542060402	0.66419	0.99753	0.99211	D	AEFBI	0.889004	0.82267	D	0.935771967628573	0.93399	12.01373	0.889669333525744	0.95106	13.31704	0.999999999966654	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.67	5.67	0.87673	9.278000	0.94968	11.175000	0.88104	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.915	0.79299	909	0.22467	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	4901.08	37	chr13	103066104	.	A	G	4901.08	.	AC=2;AF=0.048;AN=42;DP=858;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.07;SOR=0.892	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1305	20	1	0	0
chr13	107866341	107866341	-	CTG	exonic	FAM155A	.	nonframeshift insertion	FAM155A:NM_001080396:exon1:c.255_256insCAG:p.Q86_R87insQ,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1471.36	38	chr13	107866338	.	TCTG	TCTGCTG,T	1471.36	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-4.500e-02;DP=878;ExcessHet=0.3300;FS=0.598;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=6.54;ReadPosRankSum=0.033;SOR=0.636	GT:AD:DP:GQ:PL	0/0:34,0,0:34:99:0,99,1099,99,1099,1099	18	0	1	0
chr13	108820362	108820362	T	A	exonic	MYO16	.	nonsynonymous SNV	MYO16:NM_001198950:exon8:c.T893A:p.M298K	.	.	431	1079	11	1	0	13	0.00598802	.	.	702573	MYO16-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.007	B	0.005	B	0.205	U	1.000	D	-1.085	N	0.04	T	-1.114	T	0.035	T	0.477	0.662	7.548	3.31	0.450	0.189	7.787	0.106	.	0.0010	0.0061901	0.0095	0.0015	0.0688	0	0	0.0020	0.0037	0.0084	0.0052069	805	154602	rs149704651	0.0025	0.0026	0.0025	0.0026	0.0391	0.0025	0.0024	0.0376	0.0369	0.0007	0.0391	0.0036	5.144e-05	1.888e-05	0.0042	0.0009	0.0031	0.0072	0.0048	0.0048	0.0042	0.0055	0.0374	0.0045	0.0044	0.0348	0.0338	0.0011	0	0.0374	0.0040	0.0002	0	0.0034	0.0009	0.0038	0.0062	0.692	0.04277	T	0.911	0.02952	T	0.007	0.14184	B	0.005	0.11217	B	0.205379	0.16496	U	0.486578	0.819851	0.28896	N	-1.585	0.00443	N	0.04	0.62051	T	0.22	0.15578	N	0.515	0.56489	-1.1138	0.02763	T	0.035	0.15160	T	9	0.0034356713	0.00060	T	.	.	.	0.106	0.30130	.	.	0.27715347029	0.27323	0.5134021084500362	0.51262	0.286963924779	0.31096	0.455572128296	0.32704	T	0.002097	0.04028	T	-0.451041	0.01114	T	-0.390678	0.34471	T	0.00666718737543767	0.00075	T	.	.	.	0.132447	0.30839	0.1200902	0.28984	0.15821064	0.35606	0.1200902	0.28983	-3.239	0.12963	T	.	.	0.112	0.21950	B	.;.;.;.	.;.;.;.	0.935500	0.13111	9.612	0.7729512424577818	0.11817	0.67240	0.33361	D	AEFGI	0.157255	0.28274	N	-0.698731353460946	0.16058	0.8147977	-0.492521327989118	0.22359	1.214038	0.118286412907885	0.16820	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.7	3.31	0.37025	0.185000	0.16767	0.417000	0.18177	0.665000	0.62972	0.795000	0.29657	0.846000	0.27345	0.978000	0.57271	0.0:0.1541:0.0:0.8459	7.787	0.28259	906	0.23090	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1287.98	45	chr13	108820362	.	T	A	1287.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.200e-01;DP=982;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=-1.439e+00;SOR=0.645	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1575	20	0	1	0
chr13	108823254	108823254	A	G	exonic	MYO16	.	nonsynonymous SNV	MYO16:NM_001198950:exon9:c.A1073G:p.D358G	.	.	0	225	1	0	0	1	0.00221729	.	.	725351	not_provided|MYO16-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.998	D	0.957	D	0.001	U	1.000	N	2.24	M	-1.2	T	-0.333	T	0.428	T	0.359	2.936	15.79	1.12	-0.028	3.037	11.255	0.342	.	7.7e-05	0.00419329	0.0018	0.0003	0.0016	0.0219	0	1.5e-05	0	0.0005	0.0017011	263	154602	rs144509002	0.0009	0.0009	0.0010	0.0009	0.0292	0.0009	0.0009	0.0278	0.0273	5.985e-05	0.0015	0	0.0292	0	0	1.35e-05	0.0007	0.0006	0.0009	0.0009	0.0008	0.0009	0.0211	0.0007	0.0007	0.0179	0.0167	0.0001	0	0.0007	0	0.0211	0	0	1.471e-05	0.0009	0.0006	0.001	0.78490	D	0.0	0.92824	D	0.998	0.73220	D	0.957	0.69900	D	0.000754	0.42006	U	0.000000	1	0.08975	N	2.425	0.70256	M	-1.51	0.81399	D	-2.42	0.65627	N	0.51	0.61764	-0.3334	0.74035	T	0.428	0.77107	T	9	0.007999957	0.00182	T	.	.	.	0.342	0.66392	.	.	0.87841230806	0.87722	0.6294865031881459	0.62882	0.547931574497	0.51759	0.33518499136	0.15715	T	0.009338	0.20287	T	-0.311349	0.07629	T	-0.203752	0.54289	T	0.11218827132629	0.13649	T	.	.	.	0.17639327	0.38550	0.29101014	0.55125	0.22399275	0.45032	0.24758855	0.50291	-3.915	0.22527	T	.	.	0.178	0.38800	B	.;.;.;.	.;.;.;.	2.333278	0.29889	18.27	0.99430267467932221	0.64227	0.65008	0.32594	D	AEFI	0.198831	0.32566	N	-0.0514546036155782	0.39536	2.333186	-0.228206681905743	0.30530	1.719774	0.00553536411806676	0.10969	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.26	1.12	0.19700	3.052000	0.49584	3.228000	0.36892	0.691000	0.84096	0.987000	0.36337	0.981000	0.30433	0.005000	0.06747	0.5395:0.4605:0.0:0.0	11.255	0.48282	900	0.24599	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	907.98	42	chr13	108823254	.	A	G	907.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.860e-01;DP=787;ExcessHet=0.0000;FS=1.843;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=-4.950e-01;SOR=0.483	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1211	20	0	1	0
chr13	109140432	109140432	G	A	exonic	MYO16	.	nonsynonymous SNV	MYO16:NM_001198950:exon32:c.G4220A:p.R1407H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.069	N	1.000	N	0.69	N	0.87	T	-1.047	T	0.078	T	0.212	0.536	6.903	1.9	0.372	-0.086	7.307	0.040	0.00429514466575	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1262632475	2.838e-06	4.104e-06	1.407e-06	4.292e-06	1.206e-05	6.6e-07	4.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.745e-06	0	1.206e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.36310	T	0.434	0.13634	T	0.0	0.02946	B	0.0	0.01387	B	0.069053	0.02228	N	2.815490	1	0.08975	N	0.745	0.18958	N	0.87	0.46412	T	-0.91	0.24460	N	0.015	0.00407	-1.0466	0.15361	T	0.078	0.31072	T	9	0.078783244	0.12596	T	0.004295	0.10404	T	0.040	0.10527	0.361	0.36548	0.354648800996	0.35079	0.13851628065401286	0.13774	0.74495331588	0.63459	0.541201710701	0.44615	T	0.026505	0.27260	T	-0.362757	0.03976	T	-0.563881	0.16014	T	0.0526106009399876	0.05953	T	.	.	.	0.039810725	0.05566	0.042385496	0.05034	0.039810725	0.05566	0.042385496	0.05034	-4.773	0.34275	T	0.4190325336970469	0.50809	0.125	0.26357	B	.;.;.	.;.;.	0.381724	0.07536	4.186	0.95969425444753587	0.28326	0.04086	0.09547	N	AEFDBI	0.081957	0.16590	N	-0.969835667473015	0.09253	0.4371405	-0.970254164624888	0.10456	0.526786	0.999767194748889	0.42728	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.72	1.9	0.24770	0.192000	0.16902	-0.669000	0.07943	0.507000	0.23093	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1004:0.4176:0.4819:0.0	7.307	0.25627	982	0.03397	Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal;Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal;Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	1561.08	33	chr13	109140432	.	G	A	1561.08	.	AC=2;AF=0.048;AN=42;DP=802;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.91;SOR=1.022	GT:AD:DP:GQ:PL	0/0:71,0:71:99:0,120,1800	20	1	0	0
chr13	109141245	109141245	C	A	exonic	MYO16	.	nonsynonymous SNV	MYO16:NM_001198950:exon32:c.C5033A:p.P1678H	.	.	425	1093	4	0	0	4	0.00182648	.	.	3211092	MYO16-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.8	P	0.436	B	0.386	U	1.000	D	1.245	L	0.14	T	-1.125	T	0.018	T	0.079	3.238	16.86	4.07	2.275	5.335	11.752	0.193	.	0.0004	0.0211661	0.0102	0.0020	0.0417	0.0654	0.0059	0.0004	0.0040	0.0023	0.0089585	1385	154602	rs116870463	0.0037	0.0038	0.0040	0.0035	0.0678	0.0036	0.0036	0.0657	0.0648	0.0011	0.0424	0.0001	0.0678	0.0055	0.0016	9.743e-05	0.0047	0.0024	0.0071	0.0072	0.0059	0.0084	0.0728	0.0068	0.0066	0.0667	0.0644	0.0017	0	0.0349	0	0.0728	0.0062	0	0.0002	0.0061	0.0023	0.001	0.78490	D	0.004	0.74150	D	0.8	0.44988	P	0.436	0.45556	B	0.386079	0.13321	U	0.608816	1	0.08975	N	1.59	0.40313	L	0.14	0.60854	T	-1.7	0.40468	N	0.098	0.12770	-1.1245	0.02065	T	0.018	0.07565	T	9	0.0019471645	0.00027	T	.	.	.	0.193	0.47281	.	.	.	.	0.04993532709084997	0.04936	1.30891436969	0.83166	0.395048320293	0.24378	T	0.007046	0.17018	T	-0.544484	0.00315	T	-0.49571	0.22793	T	0.0513821160435711	0.05741	T	.	.	.	0.13216352	0.30783	0.22196105	0.47024	0.14883794	0.33960	0.22196105	0.47023	-5.629	0.43057	T	0.18133802164678425	0.23377	0.121	0.30238	B	.;.;.	.;.;.	2.926884	0.38873	20.8	0.99179443557318525	0.54643	0.97463	0.74912	D	AEFDBI	0.523063	0.54682	D	-0.0200675543879008	0.40947	2.440652	-0.068258345123062	0.36710	2.139921	0.999999998571309	0.74766	0.59774	0.34471	0	0.657636	0.61667	0	0.578056	0.29568	0	0.63947	0.58350	0	.	.	4.93	4.07	0.46726	5.439000	0.66307	0.323000	0.17205	0.545000	0.25583	0.961000	0.33663	0.001000	0.17328	0.003000	0.05239	0.0:0.915:0.0:0.085	11.752	0.51119	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	877.98	79	chr13	109141245	.	C	A	877.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.870e-01;DP=1563;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.11;ReadPosRankSum=-1.632e+00;SOR=0.598	GT:AD:DP:GQ:PL	0/0:77,0:77:99:0,120,1800	20	0	1	0
chr13	110176691	110176691	C	T	exonic	COL4A1	.	nonsynonymous SNV	COL4A1:NM_001845:exon35:c.G2903A:p.R968Q,	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Autosomal dominant;Brain small vessel disease with or without ocular anomalies, Autosomal dominant;Porencephaly 1, Autosomal dominant	YES	0	1516	5	1	0	7	0.00230339	.	.	194108	Brain_small_vessel_disease_1_with_or_without_ocular_anomalies|Autosomal_dominant_familial_hematuria-retinal_arteriolar_tortuosity-contractures_syndrome|not_provided	MONDO:MONDO:0008289,MedGen:C4551998,OMIM:175780,Orphanet:2940,Orphanet:36383,Orphanet:99810|MONDO:MONDO:0012726,MedGen:C2673195,OMIM:611773,Orphanet:73229|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.41	T	0.449	B	0.364	B	0.019	N	1.000	N	0.385	N	-3.23	D	-0.345	T	0.580	D	0.174	1.118	9.558	4.34	0.891	-0.336	4.237	0.244	0.0738064646741	7.7e-05	.	0.0001	9.632e-05	0.0002	0	0	0.0001	0	0.0002	0.0001229	19	154602	rs146288748	8.961e-05	8.961e-05	8.712e-05	9.213e-05	0.0005	7.689e-05	7.233e-05	0.0001	7.816e-05	2.987e-05	0.0002	0	2.519e-05	0	0.0005	8.993e-05	6.623e-05	0.0002	8.54e-05	8.536e-05	7.707e-05	9.412e-05	0.0003	4.956e-05	3.962e-05	8.876e-05	5.385e-05	2.412e-05	0	0.0003	0	0	0	0	0.0001	0	0	0.298	0.14595	T	0.655	0.06621	T	0.449	0.36046	B	0.364	0.43306	B	0.019126	0.27326	N	0.324291	0.999999	0.08975	N	0.86	0.21358	L	-3.23	0.93414	D	-0.62	0.18248	N	0.133	0.12913	-0.3453	0.73690	T	0.580	0.84880	D	10	0.16859084	0.31420	T	0.073806	0.71881	D	0.244	0.55061	.	.	0.620479444693	0.61740	0.6471600835659421	0.64651	0.506950961396	0.48887	0.288857698441	0.08756	T	0.393646	0.75300	T	-0.218638	0.18180	T	-0.255642	0.49258	T	0.040763618011765	0.03829	T	0.867913	0.56927	D	0.030958865	0.02851	0.049348976	0.07522	0.030958865	0.02851	0.049348976	0.07521	-3.626	0.18233	T	0.106254873563726	0.08520	0.071	0.03811	B	.	.	2.099930	0.26715	17.21	0.99299258518667199	0.58577	0.10989	0.16331	N	AEFBI	0.113444	0.22384	N	-0.361905948180846	0.26837	1.467763	-0.277309895507322	0.28846	1.611607	0.959937017326273	0.28457	0.744818	0.98587	0	0.59043	0.45803	0	0.732433	0.93434	0	0.711	0.71501	0	.	.	6.06	4.34	0.51267	-0.349000	0.07779	1.748000	0.28453	0.599000	0.40250	0.000000	0.06391	0.933000	0.28592	0.655000	0.32830	0.13:0.6092:0.1257:0.1351	4.237	0.10082	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1624.98	34	chr13	110176691	.	C	T	1624.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.435;DP=868;ExcessHet=0.0000;FS=0.639;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=-1.394e+00;SOR=0.768	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1098	20	0	1	0
chr13	110183066	110183066	C	G	exonic	COL4A1	.	nonsynonymous SNV	COL4A1:NM_001845:exon28:c.G2022C:p.R674S,	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Autosomal dominant;Brain small vessel disease with or without ocular anomalies, Autosomal dominant;Porencephaly 1, Autosomal dominant	.	0	1518	2	2	0	6	0.00197239	.	.	2101758	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.74	T	0.99	D	0.908	P	0.005	N	1.000	D	0.09	N	-3.2	D	-0.058	T	0.636	D	0.51	2.289	13.61	1.89	0.484	0.201	5.593	0.444	0.152998747257	.	.	0.0001	0	0	0	0	1.691e-05	0	0.0007	7.76e-05	12	154602	rs755517991	4.723e-05	4.72e-05	2.452e-05	7.018e-05	0.0007	3.796e-05	3.478e-05	0.0004	0.0004	2.988e-05	0	0	0	0	0.0007	6.296e-06	0.0002	0.0005	6.569e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.424	0.09717	T	0.413	0.14412	T	0.99	0.63424	D	0.908	0.64494	P	0.004649	0.33526	N	0.290655	0.999363	0.81001	D	0.73	0.18813	N	-3.2	0.93231	D	-1.39	0.34397	N	0.497	0.53006	-0.0578	0.81040	T	0.636	0.87254	D	10	0.20525655	0.36746	T	0.152999	0.83433	D	0.444	0.74657	0.4	0.42917	0.812918973875	0.81116	0.497208597543253	0.49641	0.43663499719	0.43747	0.489539980888	0.37374	T	0.266972	0.63896	T	-0.15718	0.27196	T	-0.102761	0.63184	T	0.156572744250298	0.17615	T	0.755224	0.37818	T	0.080579065	0.18470	0.09218399	0.21711	0.080579065	0.18470	0.09218399	0.21711	-2.468	0.05566	T	0.2025678443056992	0.26946	0.353	0.56767	A	.	.	2.277684	0.29118	18.02	0.99522657833137029	0.69346	0.63941	0.32247	D	AEFBI	0.394902	0.47198	N	-0.13273935694405	0.35971	2.073091	-0.133635093146052	0.34043	1.953962	0.99134052096159	0.32456	0.732398	0.92422	0	0.610034	0.51514	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	4.7	1.89	0.24700	0.287000	0.18678	-0.699000	0.07803	-0.176000	0.10722	0.278000	0.25122	0.008000	0.19753	0.762000	0.36218	0.1543:0.5906:0.0:0.2551	5.593	0.16593	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1983.98	35	chr13	110183066	.	C	G	1983.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.200e-01;DP=868;ExcessHet=0.0000;FS=0.578;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=-1.780e-01;SOR=0.793	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1418	20	0	1	0
chr13	110456857	110456857	-	GTGCGT	exonic	COL4A2-AS2	.	nonframeshift insertion	COL4A2-AS2:NM_001267044:exon5:c.867_868insACGCAC:p.Q289_G290insTH,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0004	0	0	3.84e-05	1	26028	rs761893253	0.0011	0.0006	0.0010	0.0011	0.0018	0.0010	0.0009	0.0015	0.0014	0.0002	0.0003	0.0010	0	0.0005	0	0.0012	0.0008	0.0018	0.0004	0.0004	0.0004	0.0003	0.0011	0.0003	0.0003	0.0004	0.0004	2.433e-05	0	0.0002	0.0006	0	0.0006	0	0.0005	0.0005	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2752.94	68	chr13	110456857	.	C	CGTGCGT	2752.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.200e-02;DP=1571;ExcessHet=0.0000;FS=2.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.70;MQRankSum=-2.863e+00;QD=14.80;ReadPosRankSum=-1.619e+00;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:102,0:102:99:.:.:0,120,1800	20	0	1	0
chr13	110456862	110456862	-	TGGGACCCCAGGCGTCCGTGGGGCTGATGCCGTGCA	exonic	COL4A2-AS2	.	nonframeshift insertion	COL4A2-AS2:NM_001267044:exon5:c.862_863insTGCACGGCATCAGCCCCACGGACGCCTGGGGTCCCA:p.Q287_T288insMHGISPTDAWGP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0004	0	0	3.84e-05	1	26028	rs759360698	0.0010	0.0007	0.0009	0.0011	0.0019	0.0010	0.0009	0.0016	0.0015	0.0002	0.0003	0.0009	0	0.0004	0	0.0011	0.0007	0.0019	0.0004	0.0004	0.0005	0.0003	0.0010	0.0003	0.0003	0.0004	0.0004	2.584e-05	0	0.0002	0.0006	0	0.0006	0	0.0006	0.0005	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2674.94	68	chr13	110456862	.	G	GTGGGACCCCAGGCGTCCGTGGGGCTGATGCCGTGCA	2674.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.860;DP=1391;ExcessHet=0.0000;FS=2.716;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=56.32;MQRankSum=-3.167e+00;QD=15.20;ReadPosRankSum=-1.448e+00;SOR=0.810	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,120,1800	20	0	1	0
chr13	110456904	110456904	-	TCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCGTGCA	exonic	COL4A2-AS2	.	nonframeshift insertion	COL4A2-AS2:NM_001267044:exon5:c.820_821insTGCACGGCATCAGCCCCACGGACGCCTGGGGTCCCACGCAGA:p.Q273_T274insMHGISPTDAWGPTQ,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0006	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	0	3.862e-05	0	0	9.326e-05	0	0.0002	6.699e-05	0.0002	0.0003	0.0007	0.0003	0.0003	0.0005	0.0003	0.0002	0.0003	0.0002	0.0002	0	0.0005	0.0006	0.0002	0.0001	0	0.0004	0.0005	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	74.94	68	chr13	110456904	.	G	GTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCGTGCA	74.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.360e-01;DP=1219;ExcessHet=0.0000;FS=1.735;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.79;MQRankSum=2.00;QD=2.34;ReadPosRankSum=1.44;SOR=1.270	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,120,1800	20	0	1	0
chr13	110456941	110456941	-	GTG	exonic	COL4A2-AS2	.	nonframeshift insertion	COL4A2-AS2:NM_001267044:exon5:c.783_784insCAC:p.Q261_G262insH,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	9.39e-05	0.0001	0.0001	0.0002	0.0001	0.0001	9.816e-05	8.405e-05	0.0002	0.0001	0.0004	0.0001	0.0001	0	0.0001	0.0001	0.0001	0.0009	0.0012	0.0010	0.0008	0.0011	0.0007	0.0007	0.0009	0.0008	0.0008	0	0.0006	0.0012	0.0005	0.0006	0	0.0011	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	658.94	68	chr13	110456941	.	C	CGTG	658.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=1144;ExcessHet=0.0000;FS=0.881;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=48.47;MQRankSum=4.18;QD=8.24;ReadPosRankSum=-2.934e+00;SOR=0.895	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:68,0:68:99:.:.:0,120,1800	20	0	1	0
chr13	110456942	110456942	-	ATCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCG	exonic	COL4A2-AS2	.	nonframeshift insertion	COL4A2-AS2:NM_001267044:exon5:c.782_783insCGGCATCAGCCCCACGGACGCCTGGGGTCCCACGCAGAT:p.Q261delinsHGISPTDAWGPTQM,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.675e-05	1.751e-05	4.763e-05	4.61e-05	6.815e-05	2.14e-05	1.547e-05	2.59e-05	1.645e-05	0	6.655e-05	0	0	0	0	6.815e-05	0	3.383e-05	0.0016	0.0016	0.0018	0.0013	0.0021	0.0013	0.0012	0.0016	0.0015	0.0012	0	0.0008	0.0017	0.0005	0.0012	0	0.0021	0.0015	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4291.37	62	chr13	110456942	.	C	G,CATCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCG	4291.37	.	AC=8,1;AF=0.444,0.056;AN=18;BaseQRankSum=2.30;DP=1158;ExcessHet=7.4688;FS=8.528;InbreedingCoeff=-0.4044;MLEAC=13,2;MLEAF=0.722,0.111;MQ=48.92;MQRankSum=2.86;QD=7.68;ReadPosRankSum=-4.184e+00;SOR=1.261	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,15,0:59:99:0|1:110456942_C_G:318,0,1563,449,1607,2057:110456942	0	0	8	12
chr13	110456968	110456968	C	-	exonic	COL4A2-AS2	.	frameshift deletion	COL4A2-AS2:NM_001267044:exon5:c.757delG:p.D253Tfs*105,	.	.	337	1183	1	1	0	3	0.00126636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs753573551	9.671e-06	0.0004	0	1.7e-05	6.003e-06	2.57e-06	7.1e-07	.	.	0	0	0	0	0.0001	0	6.003e-06	0	0	0.0009	0.0026	0.0010	0.0008	0.0020	0.0007	0.0007	0.0010	0.0008	0.0003	0	0.0016	0.0011	0.0015	0.0008	0	0.0010	0	0.0020	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	404.16	47	chr13	110456967	.	TC	T	404.16	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.92;DP=792;ExcessHet=0.1072;FS=44.071;InbreedingCoeff=-0.0529;MLEAC=2;MLEAF=0.048;MQ=44.95;MQRankSum=0.935;QD=2.87;ReadPosRankSum=-4.060e+00;SOR=3.323	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:47,0:47:99:.:.:0,120,1800	19	0	2	0
chr13	110457058	110457058	G	T	exonic	COL4A2-AS2	.	nonsynonymous SNV	COL4A2-AS2:NM_001267044:exon5:c.C667A:p.P223T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	.	.	.	.	.	.	1.000	N	.	.	.	.	-1.013	T	0.089	T	0.064	1.399	10.61	1.2	0.513	1.129	8.267	0.081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	33.71	23	chr13	110457058	.	G	T	33.71	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.259;DP=541;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0473;MLEAC=1;MLEAF=0.025;MQ=49.57;MQRankSum=-2.624e+00;QD=1.47;ReadPosRankSum=-1.280e+00;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,102,997	19	0	1	1
chr13	110457152	110457193	TGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCC	-	exonic	COL4A2-AS2	.	nonframeshift deletion	COL4A2-AS2:NM_001267044:exon5:c.532_573del:p.G178_A191del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1312441160	0.0011	0.0098	0.0013	0.0009	0.0039	0.0010	0.0010	0.0032	0.0029	0.0018	0.0012	0.0014	0.0039	0.0004	0.0019	0.0009	0.0017	0.0005	3.351e-05	0.0012	6.529e-05	0	0.0001	5.56e-06	2.08e-06	.	.	0	0	0.0001	0	0	0	0	3.458e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	371.72	26	chr13	110457151	.	GTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCC	G	371.72	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.78;DP=639;ExcessHet=0.0000;FS=6.166;InbreedingCoeff=-0.0394;MLEAC=1;MLEAF=0.025;MQ=51.02;MQRankSum=-8.120e-01;QD=24.78;ReadPosRankSum=0.403;SOR=1.901	GT:AD:DP:GQ:PL	0/0:40,0:40:59:0,59,894	19	0	1	1
chr13	110458141	110458141	C	A	exonic	COL4A2-AS2	.	nonsynonymous SNV	COL4A2-AS2:NM_001267044:exon2:c.G218T:p.G73V,	.	.	418	1091	13	0	0	13	0.00592255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	.	.	.	.	-0.978	T	0.114	T	0.106	1.519	11.03	1.73	1.303	-0.065	6.949	0.026	.	.	.	0.0001	0	0	0	0	0.0004	0	0	0.0001164	18	154602	rs551939475	0.0006	0.0003	0.0006	0.0006	0.0162	0.0005	0.0005	0.0124	0.0111	0.0005	0.0003	0.0011	0	0	0.0162	0.0005	0.0010	0.0004	0.0005	0.0005	0.0005	0.0005	0.0018	0.0004	0.0004	0.0013	0.0011	0.0001	0	0.0018	0.0003	0	0	0.0102	0.0006	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3529.08	63	chr13	110458141	.	C	A	3529.08	.	AC=2;AF=0.048;AN=42;DP=1466;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.38;SOR=0.869	GT:AD:DP:GQ:PL	0/0:92,0:92:99:0,120,1800	20	1	0	0
chr13	110508084	110508084	G	A	exonic	COL4A2	.	nonsynonymous SNV	COL4A2:NM_001846:exon47:c.G4744A:p.E1582K,	Porencephaly 2, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	1450839	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.6	T	0.329	B	0.201	B	0.152	N	1.000	D	1.915	M	-3.43	D	0.294	D	0.761	D	0.304	2.707	15.01	4.09	1.059	6.175	13.202	0.408	0.182804602492	7.7e-05	.	4.142e-05	0	0.0003	0	0	2.999e-05	0	0	3.23e-05	5	154602	rs376636910	2.326e-05	2.326e-05	2.314e-05	2.338e-05	0.0002	1.674e-05	1.477e-05	0.0001	7.816e-05	0	0.0002	3.826e-05	0.0002	0	0	8.993e-06	8.279e-05	2.319e-05	1.971e-05	1.97e-05	0	4.033e-05	4.409e-05	5.24e-06	2.45e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.021	0.49117	D	0.134	0.34241	T	0.329	0.33227	B	0.201	0.36881	B	0.152037	0.17936	N	0.487586	0.999999	0.58761	D	2.415	0.69758	M	-3.43	0.94388	D	-2.98	0.62008	D	0.534	0.56231	0.294	0.87465	D	0.761	0.91855	D	10	0.308156	0.48314	T	0.182805	0.85644	D	0.408	0.72022	.	.	0.913695700637	0.91283	0.6472452023299599	0.64659	0.341437195331	0.36074	0.411849379539	0.26712	T	0.711385	0.91770	D	-0.0794666	0.39802	T	-0.0672112	0.65825	T	0.450282871723175	0.30807	T	0.880812	0.63821	D	0.29835114	0.52757	0.24901718	0.50464	0.29835114	0.52756	0.24901718	0.50463	-8.907	0.67096	D	0.4675160950417598	0.54858	0.175	0.38281	B	.;.	.;.	3.942255	0.57693	23.9	0.99733384362285726	0.82904	0.85504	0.44643	D	AEFDGBHCI	0.705487	0.66086	D	-0.349556437967856	0.27287	1.495976	-0.327676303247533	0.27209	1.50817	0.999999999931733	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.94	4.09	0.47038	6.294000	0.72722	9.617000	0.81098	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.418000	0.27184	0.0771:0.0:0.9229:0.0	13.202	0.59196	982	0.03397	Collagen IV, non-collagenous|Collagen IV, non-collagenous|Collagen IV, non-collagenous;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2511.98	33	chr13	110508084	.	G	A	2511.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.06;DP=939;ExcessHet=0.0000;FS=8.639;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=1.22;SOR=0.857	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1174	20	0	1	0
chr13	110642422	110642422	C	T	exonic	CARS2	.	nonsynonymous SNV	CARS2:NM_024537:exon14:c.G1516A:p.E506K	Combined oxidative phosphorylation deficiency 27, Autosomal recessive	.	389	1131	2	0	0	2	0.000883392	.	.	641560	not_provided|Inborn_genetic_diseases|Combined_oxidative_phosphorylation_defect_type_27	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014728,MedGen:C5567608,OMIM:616672,Orphanet:477774	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.36	T	0.135	B	0.013	B	0.014	N	1.000	N	1.405	L	1.59	T	-1.044	T	0.050	T	0.131	0.130	4.699	2.36	0.532	0.729	7.208	0.009	0.0067301076816	0.0002	0.000199681	0.0002	0.0004	0	0.0012	0	4.208e-05	0	0.0003	9.06e-05	14	154602	rs368624802	8.149e-05	8.414e-05	8.233e-05	8.065e-05	0.0007	6.933e-05	6.482e-05	0.0003	0.0002	0.0004	4.611e-05	0	0.0002	0	0.0007	3.979e-05	0.0004	0.0003	0.0001	0.0001	0.0002	0.0001	0.0006	9.139e-05	7.696e-05	0.0002	0.0001	0.0003	0	6.533e-05	0	0.0006	0	0.0034	4.41e-05	0	0.0002	0.333	0.13003	T	0.437	0.13441	T	0.135	0.27304	B	0.013	0.16460	B	0.014333	0.28565	N	0.403765	1	0.08975	N	2.045	0.56016	M	1.59	0.28836	T	-1.37	0.33998	N	0.243	0.27435	-1.0445	0.15971	T	0.050	0.21182	T	10	0.020424873	0.00470	T	0.00673	0.17784	T	0.009	0.00846	.	.	0.36893422563	0.36505	0.18897369520343577	0.18815	0.197323763495	0.22113	0.428788840771	0.29043	T	0.116054	0.43510	T	-0.492367	0.00631	T	-0.632648	0.10214	T	0.0151615425625169	0.00331	T	0.730127	0.34567	T	0.054062314	0.10320	0.06079956	0.11636	0.054062314	0.10319	0.06079956	0.11636	-5.233	0.39275	T	.	.	0.081	0.08368	B	.	.	1.192736	0.15842	12.14	0.95212753448433707	0.26421	0.13597	0.17946	N	AEFDBHCI	0.066372	0.12995	N	-0.805912415354061	0.13159	0.646309	-0.840002700998457	0.13528	0.7022639	0.999981623884906	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.12	2.36	0.28258	0.600000	0.23803	0.285000	0.16810	0.524000	0.24156	0.001000	0.13787	0.000000	0.08366	0.008000	0.08271	0.0:0.5973:0.2553:0.1474	7.208	0.25095	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2108.98	34	chr13	110642422	.	C	T	2108.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=873;ExcessHet=0.0000;FS=3.928;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.45;ReadPosRankSum=1.51;SOR=0.452	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,947	20	0	1	0
chr13	110719251	110719251	G	C	exonic	ING1	.	nonsynonymous SNV	ING1:NM_001267728:exon2:c.G108C:p.E36D	Squamous cell carcinoma, head and neck, somatic	.	8	1509	4	1	0	6	0.00198413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.129	B	0.14	B	0.004	N	1.000	N	-0.055	N	0.84	T	-0.970	T	0.045	T	0.054	-1.809	0.009	-6.52	-0.941	-1.095	8.676	0.024	0.00633789217804	0.0005	0.000599042	0.0009	0	0.0003	0	0	0.0010	0	0.0020	0.0007115	110	154602	rs138276642	0.0005	0.0005	0.0004	0.0005	0.0020	0.0005	0.0004	0.0017	0.0016	0	6.708e-05	0.0134	0	0	0.0012	9.083e-05	0.0013	0.0020	0.0005	0.0005	0.0005	0.0006	0.0021	0.0004	0.0004	0.0011	0.0009	0	0	0	0.0182	0	0	0	0.0001	0	0.0021	1.0	0.16738	T	0.895	0.15602	T	0.0	0.02946	B	0.002	0.06944	B	0.003665	0.34636	N	0.332010	1	0.81001	D	.	.	.	0.84	0.47477	T	0.04	0.10308	N	0.111	0.09772	-0.9697	0.37262	T	0.045	0.19275	T	10	0.003244102	0.00055	T	0.006338	0.16668	T	0.024	0.04979	0.338	0.32816	0.254244900254	0.25046	0.05736288601001435	0.05677	1.03796569451	0.75674	0.530464112759	0.43100	T	0.025902	0.19278	T	-0.645014	0.00078	T	-0.706558	0.05475	T	0.0160968410488355	0.00387	T	0.806819	0.45805	T	.	.	.	.	.	.	.	.	-3.995	0.23729	T	.	.	0.056	0.09288	B	.;.;.;.	.;.;.;.	-0.505994	0.01848	0.148	0.1955308789083853	0.00665	0.09699	0.15396	N	AEFDBCI	0.044636	0.07205	N	-1.41968783469531	0.02466	0.1089312	-1.4647385711663	0.02639	0.1217504	0.999999890866248	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	5.13	-6.52	0.01703	-1.070000	0.03551	-3.663000	0.02622	0.526000	0.24426	0.017000	0.19353	0.000000	0.08366	0.351000	0.25682	0.1068:0.6016:0.1721:0.1195	8.676	0.33343	982	0.03397	.;.;Inhibitor of growth protein, N-terminal histone-binding|Inhibitor of growth protein, N-terminal histone-binding;Inhibitor of growth protein, N-terminal histone-binding|Inhibitor of growth protein, N-terminal histone-binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2185.11	34	chr13	110719251	.	G	C	2185.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.944;DP=861;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=1.66;SOR=0.667	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1313	19	0	2	0
chr13	110879895	110879897	CTC	-	exonic	ANKRD10	.	nonframeshift deletion	ANKRD10:NM_017664:exon6:c.1003_1005del:p.E335del,	.	.	432	1080	10	0	0	10	0.00460829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.00319489	0.0036	0.0012	0.0162	0.0001	0.0015	0.0024	0.0033	0.0033	0.0007684	20	26028	rs552936641	0.0034	0.0034	0.0035	0.0033	0.0161	0.0034	0.0033	0.0152	0.0148	0.0008	0.0161	0.0003	0.0001	0.0012	0.0075	0.0032	0.0037	0.0038	0.0033	0.0033	0.0034	0.0031	0.0101	0.0030	0.0029	0.0088	0.0083	0.0014	0	0.0101	0.0003	0.0002	0.0016	0.0068	0.0036	0.0014	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3917.94	34	chr13	110879894	.	TCTC	T	3917.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.063;DP=899;ExcessHet=0.0000;FS=0.540;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.06;ReadPosRankSum=0.432;SOR=0.775	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1299	20	0	1	0
chr13	112068499	112068567	GCGGCCGCCGCCGCCGCCGCTGCGGGCGGCGCGCACCAGAACTCGGCCGTGGCGGCGGCGGCGGCGGCG	-	exonic	SOX1	.	nonframeshift deletion	SOX1:NM_005986:exon1:c.841_909del:p.A284_A306del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.0072	0.0015	0.0020	0.0205	0.0017	0.0016	0.0158	0.0141	0.0015	0.0205	0.0045	0.0149	0.0470	0.0057	0.0013	0.0024	0.0005	0	6.854e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	857.95	24	chr13	112068498	.	CGCGGCCGCCGCCGCCGCCGCTGCGGGCGGCGCGCACCAGAACTCGGCCGTGGCGGCGGCGGCGGCGGCG	C	857.95	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.99;DP=616;ExcessHet=0.0000;FS=5.952;InbreedingCoeff=-0.0252;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.75;ReadPosRankSum=-1.440e-01;SOR=1.358	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:22,0:22:45:.:.:0,45,675	20	0	1	0
chr13	112547518	112547547	CGCGCGTGGGAAAGACGTGCATGGGAAAGT	-	exonic	TUBGCP3	.	nonframeshift deletion	TUBGCP3:NM_001286279:exon10:c.1241_1270del:p.D414_R423del,	.	.	440	1071	10	1	0	12	0.00557103	.	.	2814050	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0029	0.0063	0.0010	0.0011	0.0036	0.0018	0	0.0096	3.84e-05	1	26028	rs1464179058	0.0017	0.0016	0.0017	0.0017	0.0064	0.0016	0.0016	0.0058	0.0055	0.0022	0.0007	0.0001	9.457e-05	0.0026	0.0058	0.0015	0.0028	0.0064	0.0020	0.0020	0.0017	0.0024	0.0050	0.0018	0.0018	0.0034	0.0029	0.0024	0	0.0021	0	0.0008	0.0038	0.0034	0.0015	0.0033	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3710.94	193	chr13	112547517	.	ACGCGCGTGGGAAAGACGTGCATGGGAAAGT	A	3710.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=2485;ExcessHet=0.0000;FS=4.502;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.20;ReadPosRankSum=-2.970e-01;SOR=0.974	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:194,0:194:99:.:.:0,120,1800	20	0	1	0
chr13	112547532	112547547	ACGTGCATGGGAAAGT	0	exonic	TUBGCP3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	22922.08	213	chr13	112547532	.	ACGTGCATGGGAAAGT	A,*	22922.08	.	AC=6,1;AF=0.143,0.024;AN=42;BaseQRankSum=0.389;DP=2588;ExcessHet=2.5830;FS=1.106;InbreedingCoeff=-0.2000;MLEAC=6,1;MLEAF=0.143,0.024;MQ=59.97;MQRankSum=0.00;QD=14.52;ReadPosRankSum=0.139;SOR=0.783	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,101,0:212:99:0|1:112547505_C_T:3840,0,4258,4174,4562,8736:112547505	14	0	6	0
chr13	112547554	112547568	TGGGAAAGTCGCGCG	-	exonic	TUBGCP3	.	nonframeshift deletion	TUBGCP3:NM_001286279:exon10:c.1220_1234del:p.T412_P416del,	.	.	0	82	50	8	86	152	0.286957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22322.88	182	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	ATGGGAAAGTCGCGCG,GTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG,A,*,ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	22322.88	.	AC=7,1,1,7,1;AF=0.167,0.024,0.024,0.167,0.024;AN=42;BaseQRankSum=0.234;DP=3259;ExcessHet=2.4516;FS=0.000;InbreedingCoeff=-0.0871;MLEAC=7,1,1,7,1;MLEAF=0.167,0.024,0.024,0.167,0.024;MQ=59.98;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.134;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0|4:111,0,0,0,101,0:212:99:0|1:112547505_C_T:3840,4174,8736,4174,8736,8736,4174,8736,8736,8736,0,4562,4562,4562,4258,4174,8736,8736,8736,4562,8736:112547505	7	0	5	0
chr13	112547538	112547568	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	0	exonic	TUBGCP3	.	.	.	.	.	0	82	50	8	86	152	0.286957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22322.88	182	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	ATGGGAAAGTCGCGCG,GTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG,A,*,ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	22322.88	.	AC=7,1,1,7,1;AF=0.167,0.024,0.024,0.167,0.024;AN=42;BaseQRankSum=0.234;DP=3259;ExcessHet=2.4516;FS=0.000;InbreedingCoeff=-0.0871;MLEAC=7,1,1,7,1;MLEAF=0.167,0.024,0.024,0.167,0.024;MQ=59.98;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.134;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0|4:111,0,0,0,101,0:212:99:0|1:112547505_C_T:3840,4174,8736,4174,8736,8736,4174,8736,8736,8736,0,4562,4562,4562,4258,4174,8736,8736,8736,4562,8736:112547505	7	0	5	0
chr13	112547568	112547568	-	TGGGAAAGTCGCGCG	exonic	TUBGCP3	.	nonframeshift insertion	TUBGCP3:NM_001286279:exon10:c.1219_1220insCGCGCGACTTTCCCA:p.P416_M417insTRDFP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22322.88	182	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	ATGGGAAAGTCGCGCG,GTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG,A,*,ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	22322.88	.	AC=7,1,1,7,1;AF=0.167,0.024,0.024,0.167,0.024;AN=42;BaseQRankSum=0.234;DP=3259;ExcessHet=2.4516;FS=0.000;InbreedingCoeff=-0.0871;MLEAC=7,1,1,7,1;MLEAF=0.167,0.024,0.024,0.167,0.024;MQ=59.98;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.134;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0|4:111,0,0,0,101,0:212:99:0|1:112547505_C_T:3840,4174,8736,4174,8736,8736,4174,8736,8736,8736,0,4562,4562,4562,4258,4174,8736,8736,8736,4562,8736:112547505	7	0	5	0
chr13	112547564	112547564	G	0	exonic	TUBGCP3	.	.	.	.	.	436	917	58	3	108	172	0.0337197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2451.41	175	chr13	112547564	.	G	A,*	2451.41	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=-1.472e+00;DP=2434;ExcessHet=0.1072;FS=1.260;InbreedingCoeff=-0.0633;MLEAC=1,1;MLEAF=0.025,0.025;MQ=60.00;MQRankSum=0.00;QD=6.85;ReadPosRankSum=0.573;SOR=0.786	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:171,0,0:171:99:.:.:0,120,1800,120,1800,1800	18	0	1	1
chr13	112547565	112547565	C	0	exonic	TUBGCP3	.	.	.	.	.	443	851	116	13	99	241	0.0770065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	24873.61	185	chr13	112547565	.	C	T,*	24873.61	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=0.983;DP=2360;ExcessHet=3.5521;FS=1.103;InbreedingCoeff=-0.2353;MLEAC=7,1;MLEAF=0.167,0.024;MQ=59.97;MQRankSum=0.00;QD=16.56;ReadPosRankSum=-7.970e-01;SOR=0.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,93,0:179:99:0|1:112547505_C_T:3562,0,3166,3821,3447,7267:112547505	13	0	7	0
chr13	113044858	113044858	C	G	exonic	MCF2L	.	nonsynonymous SNV	MCF2L:NM_001366645:exon1:c.C134G:p.T45R	.	.	429	1080	11	2	0	15	0.00689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.111	B	0.02	B	.	.	1.000	N	.	.	1.24	T	-1.019	T	0.051	T	0.058	-0.082	3.600	-0.89	-0.038	-2.654	2.711	0.025	0.00253447750239	.	0.00119808	0.0013	0	0.0006	0	0	0.0005	0	0.0066	0.0010414	161	154602	rs200111582	0.0006	0.0006	0.0004	0.0008	0.0068	0.0006	0.0005	0.0063	0.0061	2.987e-05	0.0006	0.0035	2.519e-05	0.0002	0.0033	7.645e-05	0.0008	0.0068	0.0004	0.0004	0.0003	0.0004	0.0054	0.0003	0.0003	0.0038	0.0032	7.216e-05	0	0.0004	0.0029	0	9.42e-05	0	0.0001	0.0005	0.0054	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.24	0.36691	T	-1.27	0.36189	N	0.18	0.19459	-1.0190	0.24041	T	0.051	0.21533	T	8	0.0039972663	0.00077	T	0.002534	0.05065	T	0.025	0.05312	0.16	0.06396	0.179529687257	0.17594	.	.	.	.	.	.	.	.	.	.	-0.658608	0.00064	T	-0.715654	0.05008	T	0.00932054833725134	0.00119	T	0.39556	0.09932	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11510	B	.;.	.;.	-0.163453	0.03281	0.563	0.40551858735703439	0.02869	0.04407	0.09994	N	AEFDGBCI	0.107016	0.21334	N	-1.16372843866563	0.05558	0.253669	-1.27815412306527	0.04727	0.2236351	0.999999745764187	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.28	-0.89	0.10041	-2.486000	0.01054	-2.921000	0.03228	-0.929000	0.02155	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2084:0.4165:0.0:0.3751	2.711	0.04855	994	0.00715	.;CRAL-TRIO lipid binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1160.98	105	chr13	113044858	.	C	G	1160.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=805;ExcessHet=0.0000;FS=2.569;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.06;ReadPosRankSum=-1.809e+00;SOR=1.038	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1390	20	0	1	0
chr13	113064409	113064409	T	G	exonic	MCF2L	.	nonsynonymous SNV	MCF2L:NM_001366645:exon4:c.T481G:p.C161G	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.108	B	0.062	B	0.000	D	1.000	D	1.1	L	2.61	T	-1.030	T	0.025	T	0.515	1.970	12.54	3.84	0.767	3.650	6.538	0.133	0.0136684368666	0.0005	0.000599042	0.0008	0	0.0003	0	0.0002	0.0008	0.0023	0.0019	0.0007374	114	154602	rs201672761	0.0008	0.0008	0.0007	0.0009	0.0016	0.0007	0.0007	0.0014	0.0013	2.987e-05	0.0004	7.656e-05	2.519e-05	0.0001	0.0009	0.0008	0.0006	0.0016	0.0005	0.0005	0.0006	0.0004	0.0012	0.0004	0.0004	0.0008	0.0008	7.214e-05	0	6.535e-05	0.0003	0	0	0	0.0010	0.0009	0.0012	0.328	0.13219	T	0.34	0.18846	T	0.066	0.23586	B	0.019	0.26930	B	0.000013	0.62929	D	0.118224	0.581767	0.33391	D	2.08	0.57402	M	2.61	0.13095	T	-1.58	0.48687	N	0.538	0.56919	-1.0302	0.20390	T	0.025	0.10553	T	10	0.017061472	0.00362	T	0.013668	0.33248	T	0.133	0.36157	.	.	0.686437061672	0.68375	0.34150924698799245	0.34063	0.46112784952	0.45662	0.42618778348	0.28687	T	0.051583	0.28921	T	-0.44994	0.01130	T	-0.426348	0.30350	T	0.0318019585729775	0.02274	T	0.936606	0.76191	D	0.26149604	0.49208	0.13839795	0.33053	0.26149604	0.49208	0.13839795	0.33053	-11.571	0.82997	D	.	.	0.075	0.19316	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.919684	0.38759	20.8	0.88242816941992264	0.17825	0.71176	0.34901	D	AEFDGBCI	0.826229	0.74576	D	-0.250534243171865	0.31081	1.739358	-0.0983262092720492	0.35459	2.051781	0.999999992461113	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.02	3.84	0.43422	1.844000	0.38910	3.332000	0.37635	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	0.986000	0.61781	0.1378:0.076:0.0:0.7862	6.538	0.21562	994	0.00715	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1463.98	34	chr13	113064409	.	T	G	1463.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.636e+00;DP=797;ExcessHet=0.0000;FS=6.850;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.64;ReadPosRankSum=-1.860e+00;SOR=0.266	GT:AD:DP:GQ:PL	0/1:43,57:100:99:1478,0,1111	20	0	1	0
chr13	113117586	113117622	CGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCCGAC	-	exonic	F7	.	frameshift deletion	F7:NM_001267554:exon5:c.543_553del:p.I181Mfs*12	Factor VII deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	615744	Factor_VII_deficiency|not_provided|Congenital_factor_VII_deficiency	MONDO:MONDO:0002244,MeSH:D005168,MedGen:C0015503|MedGen:C3661900|MONDO:MONDO:0009211,MedGen:C0272320,OMIM:227500,Orphanet:327	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	8.645e-05	0	0	0.0008	0	0.0001	0.0001153	3	26028	rs1309684522	0.0018	0.0018	0.0018	0.0018	0.0018	0.0017	0.0017	0.0017	0.0017	0.0004	0.0017	0.0055	0	0.0040	0.0010	0.0018	0.0024	0.0006	0.0026	0.0029	0.0027	0.0026	0.0040	0.0024	0.0023	0.0036	0.0035	0.0005	0.0077	0.0022	0.0061	0	0.0035	0.0068	0.0040	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	523.94	35	chr13	113117585	.	TCGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCCGAC	T	523.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.639;DP=808;ExcessHet=0.0000;FS=1.116;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.72;MQRankSum=-1.573e+00;QD=7.71;ReadPosRankSum=0.531;SOR=0.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1276	20	0	1	0
chr13	113139392	113139392	C	G	exonic	F10	.	nonsynonymous SNV	F10:NM_000504:exon4:c.C292G:p.Q98E	Factor X deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.007	B	0.015	B	0.386	N	1.000	N	0.615	N	-4.89	D	0.138	D	0.848	D	0.049	0.060	4.327	0.659	-0.480	0.096	13.704	0.325	0.0433168086848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.18308	T	0.523	0.12668	T	0.007	0.14184	B	0.015	0.17295	B	0.386311	0.04451	N	1.329280	1	0.08975	N	-1.015	0.01143	N	-4.89	0.98313	D	-0.7	0.21215	N	0.131	0.12627	0.138	0.84846	D	0.848	0.94916	D	10	0.18665126	0.34139	T	0.043317	0.60920	D	0.325	0.64725	0.381	0.39807	0.858465276413	0.85710	0.7264341038236296	0.72587	0.565267555211	0.52870	0.270203709602	0.06168	T	0.266357	0.77703	T	-0.0852311	0.38860	T	-0.360205	0.38028	T	0.207658961415291	0.20830	T	0.706229	0.31676	T	0.19044305	0.40629	0.17547177	0.40014	0.19044305	0.40629	0.17547177	0.40013	-4.902	0.35757	T	0.1616459173400044	0.19803	0.066	0.02200	B	.;.;.	.;.;.	-0.340271	0.02445	0.279	0.71542500644615203	0.09664	0.48518	0.28225	N	AEFDGBHCI	0.563527	0.57068	D	-1.22897121095375	0.04584	0.2072145	-1.18559399272297	0.06149	0.2951221	0.999999998974462	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.63	0.659	0.17033	0.132000	0.15716	-0.338000	0.09838	-1.674000	0.00795	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.1746:0.3362:0.4892:0.0	13.704	0.62107	929	0.16858	EGF-like domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4579.98	34	chr13	113139392	.	C	G	4579.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.241e+00;DP=1113;ExcessHet=0.0000;FS=1.104;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=-1.200e-02;SOR=0.593	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr13	113140972	113140972	G	A	exonic	F10	.	nonsynonymous SNV	F10:NM_000504:exon5:c.G424A:p.E142K	Factor X deficiency, Autosomal recessive	YES	0	1510	11	1	0	13	0.00428619	.	.	27100	not_provided|F10-related_disorder|Abnormal_bleeding|Factor_X_deficiency|not_specified|Hereditary_factor_X_deficiency_disease	MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140|MONDO:MONDO:0002247,MeSH:D005171,MedGen:C0015519|MedGen:CN169374|MONDO:MONDO:0009212,MedGen:C0272327,OMIM:227600,Orphanet:328	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.25	T	0.992	D	0.566	P	0.008	N	0.000	A	2.795	M	-4.0	D	0.862	D	0.864	D	0.805	0.213	5.148	3.76	2.306	1.597	7.009	0.614	.	0.0021	0.00139776	0.0045	0.0012	0.0004	0	0.0160	0.0055	0.0066	0.0030	0.0042755	661	154602	rs61753266	0.0038	0.0038	0.0037	0.0039	0.0049	0.0037	0.0037	0.0034	0.0033	0.0005	0.0006	0.0052	0	0.0186	0.0049	0.0035	0.0034	0.0034	0.0033	0.0033	0.0031	0.0035	0.0033	0.0031	0.0030	0.0029	0.0028	0.0008	0	0.0010	0.0040	0	0.0188	0	0.0033	0.0019	0.0027	0.764	0.04148	T	0.767	0.04523	T	0.992	0.64738	D	0.565	0.49756	P	0.007962	0.31093	N	0.301259	4.36547e-09	0.08975	A	1.64	0.41913	L	-4.0	0.96339	D	-1.13	0.29525	N	0.457	0.50237	0.862	0.95181	D	0.864	0.95475	D	9	0.058690608	0.06939	T	.	.	.	0.614	0.84932	.	.	0.976480413009	0.97622	0.8535614222426939	0.85318	1.2713391689	0.82275	0.453467160463	0.32417	T	0.314666	0.85865	T	-0.047579	0.44815	T	0.159009	0.80745	D	0.0159830392420818	0.00380	T	0.716128	0.48957	T	0.53725857	0.69242	0.30863124	0.56881	0.5864146	0.71958	0.29364866	0.55393	-11.707	0.83395	D	0.47584131735732704	0.55543	0.252	0.48695	B	.;.;.	.;.;.	2.810952	0.37005	20.4	0.96024663063007809	0.28486	0.06416	0.12420	N	AEFDGBI	0.696679	0.65494	D	-0.0212999599189677	0.40893	2.436366	-0.167580244728662	0.32736	1.865	0.999968585621971	0.48965	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	4.68	3.76	0.42368	0.474000	0.21858	9.392000	0.80586	0.676000	0.76740	0.000000	0.06391	1.000000	0.68203	0.970000	0.54328	0.089:0.0:0.7381:0.1728	7.009	0.24030	923	0.18507	EGF-like domain;EGF-like domain;EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	947.98	33	chr13	113140972	.	G	A	947.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.350e-01;DP=813;ExcessHet=0.0000;FS=5.105;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.98;ReadPosRankSum=0.600;SOR=0.540	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1376	20	0	1	0
chr13	113170486	113170486	C	T	exonic	PROZ	.	nonsynonymous SNV	PROZ:NM_003891:exon7:c.C647T:p.T216I	.	.	.	.	.	.	.	.	.	.	.	976776	Abnormal_bleeding|Thrombocytopenia	Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140|Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	U	1.000	D	2.135	M	-2.43	D	0.787	D	0.798	D	0.772	2.380	13.92	4.02	1.789	3.229	16.169	0.757	0.218973759741	.	0.000399361	0.0005	0	0	0	0	0	0	0.0035	0.000414	64	154602	rs200554916	0.0002	0.0002	9.573e-05	0.0003	0.0032	0.0002	0.0002	0.0029	0.0028	0	0	0	0	0	0.0002	4.518e-06	9.963e-05	0.0032	9.851e-05	9.844e-05	7.71e-05	0.0001	0.0031	6.004e-05	4.877e-05	0.0019	0.0016	0	0	0	0	0	0	0	0	0	0.0031	0.006	0.61437	D	0.01	0.65728	D	1.0	0.90584	D	0.996	0.88582	D	0.000050	0.53742	U	0.121422	0.999989	0.54805	D	2.645	0.77386	M	-2.43	0.88689	D	-3.01	0.62518	D	0.83	0.82559	0.787	0.94255	D	0.798	0.93170	D	10	0.14795548	0.28026	T	0.218974	0.87685	D	0.757	0.91710	.	.	0.976688973687	0.97644	0.7957907208180832	0.79532	0.635715063463	0.57377	0.524573743343	0.42270	T	0.899487	0.98018	D	-0.0838087	0.39092	T	0.104102	0.77181	D	0.240226401371516	0.22430	T	0.767423	0.40277	T	0.6013226	0.72762	0.39095905	0.63878	0.6013226	0.72763	0.39095905	0.63878	-9.388	0.71082	D	.	.	0.803	0.78104	P	.;.	.;.	3.507352	0.49099	22.7	0.99804696095362921	0.88906	0.75687	0.37071	D	AEFDGBCI	0.816265	0.73804	D	0.376246845553326	0.60138	4.19946	0.25902350878022	0.53164	3.486761	0.999999996640088	0.74766	0.569682	0.32691	0	0.657636	0.61667	0	0.578056	0.29568	0	0.656636	0.63459	0	.	.	4.02	4.02	0.45968	3.583000	0.53673	6.346000	0.55484	0.450000	0.21304	0.999000	0.42656	1.000000	0.68203	0.309000	0.24713	0.0:1.0:0.0:0.0	16.169	0.81604	912	0.21483	.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1460.98	40	chr13	113170486	.	C	T	1460.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.696e+00;DP=823;ExcessHet=0.0000;FS=2.178;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.07;ReadPosRankSum=0.237;SOR=0.527	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1119	20	0	1	0
chr13	113171776	113171776	C	T	exonic	PROZ	.	nonsynonymous SNV	PROZ:NM_003891:exon8:c.C874T:p.L292F	.	.	418	1089	13	2	0	17	0.00774487	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	0.858	N	2.365	M	-2.6	D	0.183	D	0.788	D	0.365	1.590	11.27	3.05	1.842	0.727	12.011	0.481	.	0.0006	0.0061901	0.0033	0.0005	0.0007	0	0	0.0008	0.0011	0.0204	0.0030077	465	154602	rs140236962	0.0020	0.0020	0.0014	0.0026	0.0195	0.0019	0.0019	0.0187	0.0184	0.0002	0.0006	0	5.04e-05	0	0.0021	0.0010	0.0022	0.0195	0.0014	0.0014	0.0012	0.0017	0.0215	0.0013	0.0012	0.0182	0.0169	0.0003	0	0.0004	0	0	9.407e-05	0.0034	0.0013	0.0005	0.0215	0.0	0.91255	D	0.183	0.29153	T	0.954	0.90584	P	0.667	0.92359	P	0.000002	0.62929	D	0.000000	0.858429	0.28392	N	2.655	0.77738	M	-2.6	0.89888	D	-3.82	0.71997	D	0.415	0.45520	0.183	0.85615	D	0.788	0.92818	D	10	0.008682966	0.00197	T	.	.	.	0.481	0.77142	.	.	0.997724057262	0.99770	0.841986440874215	0.84158	0.637825220788	0.57520	0.402601897717	0.25431	T	0.840025	0.96261	D	-0.179562	0.23799	T	-0.0151099	0.69351	D	0.0835200810111801	0.10432	T	0.749925	0.37818	T	0.91567814	0.92831	0.7465187	0.85017	0.91567814	0.92832	0.7465187	0.85018	-9.217	0.69082	D	.	.	0.711	0.73392	P	.;.	.;.	2.532041	0.32736	19.13	0.99686700141497364	0.79641	0.29422	0.23817	N	AEFDBI	0.253350	0.37286	N	0.0962042053286633	0.46284	2.871274	-0.0791109022097972	0.36256	2.107579	0.999984167162257	0.51787	0.372202	0.05800	0	0.546412	0.12157	0	0.463624	0.06942	0	0.735409	0.98432	0	.	.	4.16	3.05	0.34272	0.905000	0.28127	2.905000	0.35473	0.454000	0.21428	0.792000	0.29619	0.995000	0.32472	0.050000	0.15192	0.0:0.8364:0.0:0.1636	12.011	0.52582	912	0.21483	.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1323.98	33	chr13	113171776	.	C	T	1323.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.240e-01;DP=834;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.34;ReadPosRankSum=-4.600e-02;SOR=0.700	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1198	20	0	1	0
chr13	113319653	113319691	CACGGTAGGGCTGGGGCCTCACCTGGGAGAGGGGGACGG	-	exonic	LAMP1	.	frameshift deletion	LAMP1:NM_005561:exon5:c.747_750del:p.N249Kfs*3,	.	.	420	1086	14	2	0	18	0.00821918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00599042	0.0032	0.0005	0.0009	0	0	0.0007	0.0034	0.0190	0.0003074	8	26028	rs563136954	0.0016	0.0017	0.0011	0.0022	0.0180	0.0016	0.0016	0.0173	0.0170	0.0001	0.0004	3.828e-05	5.038e-05	0	0.0021	0.0006	0.0020	0.0180	0.0013	0.0013	0.0010	0.0016	0.0224	0.0011	0.0011	0.0190	0.0177	0.0002	0	0.0005	0	0	0	0.0034	0.0010	0.0005	0.0224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1656.94	33	chr13	113319652	.	ACACGGTAGGGCTGGGGCCTCACCTGGGAGAGGGGGACGG	A	1656.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=822;ExcessHet=0.0000;FS=3.663;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.93;ReadPosRankSum=0.618;SOR=0.422	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1186	20	0	1	0
chr13	113403419	113403419	T	C	exonic	LOC101928841	.	nonsynonymous SNV	LOC101928841:NM_001304433:exon2:c.A4771G:p.M1591V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs943395448	5.464e-05	4.173e-05	4.386e-05	6.67e-05	0.0007	4.302e-05	3.939e-05	0.0001	5.063e-05	0	0	0	0	0	0.0007	6.087e-05	2.29e-05	0	0.0001	0.0001	6.425e-05	0.0001	0.0002	6.514e-05	5.325e-05	0.0001	7.895e-05	7.244e-05	0	0	0	0	0	0	0.0002	0	0.0002	.	.	.	0.648	0.06788	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.02179	.	.	.	.	.	.	.	0.059140295	0.07063	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013825	0.11884	T	.	.	.	.	.	.	.	.	.	0.329367	0.06881	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.24867	B	.	.	0.114447	0.05132	1.658	0.70801480900319447	0.09415	0.04109	0.09580	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999987569017368	0.51787	0.055982	0.00716	0	0.063388	0.01293	0	0.072005	0.02045	0	0.062806	0.01542	0	0.0985205	0.21973	5.09	1.03	0.19161	-0.390000	0.07392	-2.140000	0.04154	-0.194000	0.09177	0.000000	0.06391	0.000000	0.08366	0.062000	0.16114	0.0:0.1708:0.3058:0.5234	4.726	0.12321	976	0.04745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	470.98	44	chr13	113403419	.	T	C	470.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=1139;ExcessHet=0.0000;FS=3.946;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.56;ReadPosRankSum=0.175;SOR=1.321	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,107,1487	20	0	1	0
chr13	113404037	113404180	GAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGCTCCTGAGCCCCTTTCTGGGCCTGTTCCC	-	exonic	LOC101928841	.	nonframeshift deletion	LOC101928841:NM_001304433:exon2:c.4010_4153del:p.R1337_A1384del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.328e-05	5.978e-05	7.075e-05	7.6e-05	0.0011	5.635e-05	5.085e-05	0.0002	8.021e-05	7.456e-05	0	0.0001	4.061e-05	0	0.0011	7.967e-05	3.474e-05	0	0.0002	0.0003	0.0002	0.0002	0.0003	0.0001	0.0001	8.59e-05	4.619e-05	0.0001	0	0.0003	0.0026	0	0.0005	0	0.0001	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	54.94	37	chr13	113404036	.	TGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGCTCCTGAGCCCCTTTCTGGGCCTGTTCCC	T	54.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.370e-01;DP=3243;ExcessHet=0.0000;FS=0.562;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.89;MQRankSum=4.47;QD=0.12;ReadPosRankSum=1.66;SOR=0.631	GT:AD:DP:GQ:PL	0/1:147,315:462:69:69,0,5434	20	0	1	0
chr13	113404039	113404049	GCCCGTTCCTG	-	exonic	LOC101928841	.	frameshift deletion	LOC101928841:NM_001304433:exon2:c.4141_4151del:p.Q1381Sfs*75	.	.	1	219	1	0	5	6	0.0022779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.909e-05	3.923e-05	2.142e-05	3.737e-05	2.663e-05	2.093e-05	1.847e-05	1.852e-05	1.573e-05	0	0	6.216e-05	0	0.0002	0	2.663e-05	2.094e-05	0	8.21e-05	0.0001	0.0001	4.207e-05	0.0001	4.669e-05	3.648e-05	7.043e-05	5.188e-05	0	0	0	0.0003	0	0.0002	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	855.03	37	chr13	113404038	.	AGCCCGTTCCTG	A,*	855.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-1.527e+00;DP=3411;ExcessHet=0.1072;FS=0.523;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=58.29;MQRankSum=1.52;QD=0.97;ReadPosRankSum=-3.340e+00;SOR=0.640	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:147,0,315:462:69:.:.:69,505,6308,0,5803,5434	19	0	1	0
chr13	113404038	113404049	AGCCCGTTCCTG	0	exonic	LOC101928841	.	.	.	.	.	1	219	1	0	5	6	0.0022779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	855.03	37	chr13	113404038	.	AGCCCGTTCCTG	A,*	855.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-1.527e+00;DP=3411;ExcessHet=0.1072;FS=0.523;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=58.29;MQRankSum=1.52;QD=0.97;ReadPosRankSum=-3.340e+00;SOR=0.640	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:147,0,315:462:69:.:.:69,505,6308,0,5803,5434	19	0	1	0
chr13	113404039	113404039	G	0	exonic	LOC101928841	.	.	.	.	.	897	593	26	2	4	34	0.0246711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	3720.46	37	chr13	113404039	.	G	A,*	3720.46	.	AC=2,2;AF=0.048,0.048;AN=42;BaseQRankSum=-2.469e+00;DP=3657;ExcessHet=0.6776;FS=0.537;InbreedingCoeff=-0.1053;MLEAC=2,2;MLEAF=0.048,0.048;MQ=58.82;MQRankSum=-5.980e-01;QD=2.30;ReadPosRankSum=1.26;SOR=0.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:147,0,315:462:69:.:.:69,505,6308,0,5803,5434	17	0	2	0
chr13	113404050	113404219	AGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGCTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAG	0	exonic	LOC101928841	.	.	.	.	.	1	193	1	0	31	32	0.00258398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	593.03	37	chr13	113404050	.	AGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGCTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAG	*,A	593.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-7.140e-01;DP=3098;ExcessHet=0.1072;FS=1.113;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=57.79;MQRankSum=4.04;QD=0.61;ReadPosRankSum=-3.346e+00;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,315,0:477:99:0|1:113404045_TCCTG_*:117,0,5418,1475,6445,11250:113404045	19	0	1	0
chr13	113404051	113404219	GCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGCTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAG	-	exonic	LOC101928841	.	frameshift deletion	LOC101928841:NM_001304433:exon2:c.3971_4139del:p.A1324Vfs*15	.	.	1	193	1	0	31	32	0.00258398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.738e-06	5.525e-06	0	3.621e-06	1.037e-06	2.9e-07	1.1e-07	.	.	0	0	0	0	0	0	1.037e-06	2.147e-05	0	7.344e-06	7.168e-06	0	1.508e-05	1.599e-05	0	0	.	.	0	0	0	0	0	0	0	1.599e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	593.03	37	chr13	113404050	.	AGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGCTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAG	*,A	593.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-7.140e-01;DP=3098;ExcessHet=0.1072;FS=1.113;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=57.79;MQRankSum=4.04;QD=0.61;ReadPosRankSum=-3.346e+00;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,315,0:477:99:0|1:113404045_TCCTG_*:117,0,5418,1475,6445,11250:113404045	19	0	1	0
chr13	113404072	113404072	C	T	exonic	LOC101928841	.	nonsynonymous SNV	LOC101928841:NM_001304433:exon2:c.G4118A:p.R1373Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs1175940521	0.0002	0.0006	0.0002	0.0002	0.0024	0.0002	0.0002	0.0012	0.0009	6.948e-05	0.0024	0.0015	6.119e-05	0.0011	0.0011	0.0001	0.0003	0.0010	0.0011	0.0036	0.0012	0.0009	0.0021	0.0008	0.0007	0.0008	0.0006	0.0010	0	0.0016	0.0075	0.0021	0.0010	0	0.0004	0.0068	0	.	.	.	0.392	0.15406	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.01658	.	.	.	.	.	.	.	0.06473833	0.08630	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00652	0.05951	T	.	.	.	.	.	.	.	.	.	0.494351	0.15306	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.10014	B	.	.	0.023703	0.04450	1.173	0.56905517594466126	0.05653	0.00019	0.00214	N	AEFBI	.	.	.	.	.	.	.	.	.	0.9873297687184	0.31238	0.056701	0.00814	0	0.085267	0.02369	0	0.074216	0.02223	0	0.079188	0.02158	0	0.0518733	0.10782	2.74	-0.191	0.12601	-2.302000	0.01217	.	.	-1.856000	0.00566	0.000000	0.06391	.	.	0.000000	0.00833	0.1706:0.1117:0.176:0.5417	1.443	0.02216	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	379.15	37	chr13	113404072	.	C	T,*	379.15	.	AC=2,2;AF=0.048,0.048;AN=42;DP=2873;ExcessHet=0.0082;FS=0.000;InbreedingCoeff=0.4474;MLEAC=2,2;MLEAF=0.048,0.048;MQ=42.22;QD=0.38;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:161,0,315:477:99:0|1:113404045_TCCTG_*:117,1475,11250,0,6445,5418:113404045	18	1	0	0
chr13	113404072	113404072	C	0	exonic	LOC101928841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	379.15	37	chr13	113404072	.	C	T,*	379.15	.	AC=2,2;AF=0.048,0.048;AN=42;DP=2873;ExcessHet=0.0082;FS=0.000;InbreedingCoeff=0.4474;MLEAC=2,2;MLEAF=0.048,0.048;MQ=42.22;QD=0.38;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:161,0,315:477:99:0|1:113404045_TCCTG_*:117,1475,11250,0,6445,5418:113404045	18	1	0	0
chr13	113404117	113404152	TCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGC	-	exonic	LOC101928841	.	nonframeshift deletion	LOC101928841:NM_001304433:exon2:c.4038_4073del:p.R1373_A1384del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0005	0.0002	0.0002	0.0012	0.0002	0.0002	0.0006	0.0004	0.0010	0.0007	0.0008	0.0002	0.0005	0.0012	0.0002	0.0005	0.0001	0.0009	0.0030	0.0009	0.0008	0.0011	0.0007	0.0006	0.0008	0.0007	0.0011	0	0.0008	0.0010	0	0.0006	0	0.0010	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	155.38	37	chr13	113404116	.	TTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGC	T,*	155.38	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=1.58;DP=2182;ExcessHet=0.1128;FS=1.118;InbreedingCoeff=0.1624;MLEAC=1,1;MLEAF=0.025,0.025;MQ=57.79;MQRankSum=-7.640e-01;QD=0.29;ReadPosRankSum=0.729;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:161,0,315:477:99:0|1:113404045_TCCTG_*:117,1475,11250,0,6445,5418:113404045	18	0	1	1
chr13	113404116	113404152	TTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGC	0	exonic	LOC101928841	.	.	.	.	.	11	175	1	0	39	40	0.002849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	155.38	37	chr13	113404116	.	TTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGC	T,*	155.38	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=1.58;DP=2182;ExcessHet=0.1128;FS=1.118;InbreedingCoeff=0.1624;MLEAC=1,1;MLEAF=0.025,0.025;MQ=57.79;MQRankSum=-7.640e-01;QD=0.29;ReadPosRankSum=0.729;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:161,0,315:477:99:0|1:113404045_TCCTG_*:117,1475,11250,0,6445,5418:113404045	18	0	1	1
chr13	113404152	113404152	C	0	exonic	LOC101928841	.	.	.	.	.	74	109	6	10	27	53	0.106557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5278	13067.7	97	chr13	113404152	.	C	T,*	13067.7	.	AC=18,3;AF=0.500,0.083;AN=36;BaseQRankSum=1.82;DP=1904;ExcessHet=0.0725;FS=0.000;InbreedingCoeff=0.1863;MLEAC=20,3;MLEAF=0.556,0.083;MQ=55.13;MQRankSum=-6.490e-01;QD=9.73;ReadPosRankSum=-4.236e+00;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,64,361:425:99:.:.:2449,564,374,2027,0,2433	4	5	6	3
chr13	113407617	113407617	G	T	exonic	LOC101928841	.	nonsynonymous SNV	LOC101928841:NM_001304433:exon2:c.C573A:p.F191L	.	.	970	551	1	0	0	1	0.000906618	.	.	2814091	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	.	.	.	.	.	.	.	.	0.0005886	91	154602	rs113429647	0.0052	0.0041	0.0052	0.0052	0.0052	0.0051	0.0050	0.0051	0.0050	0.0006	0.0017	0.0047	0	0.0212	0.0031	0.0052	0.0051	0.0023	0.0056	0.0056	0.0053	0.0060	0.0084	0.0053	0.0052	0.0078	0.0076	0.0005	0.0143	0.0008	0.0037	0	0.0183	0	0.0084	0.0066	0.0025	.	.	.	0.071	0.43531	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.438	0.47672	.	.	.	.	.	.	.	0.0074380636	0.00169	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021332	0.16629	T	.	.	.	.	.	.	.	.	.	0.467153	0.13745	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.965	0.88720	P	.	.	1.056053	0.14373	10.95	0.81813085669044394	0.13872	0.28599	0.23598	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999764303065399	0.42728	0.080785	0.02172	0	0.096583	0.02683	0	0.074216	0.02223	0	0.062806	0.01542	0	0.123863	0.25062	4.87	-3.94	0.03856	-0.594000	0.05828	-1.571000	0.05146	0.569000	0.28856	0.405000	0.26210	0.000000	0.08366	0.357000	0.25818	0.3577:0.0:0.5311:0.1112	8.568	0.32715	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1700.98	36	chr13	113407617	.	G	T	1700.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.940e-01;DP=895;ExcessHet=0.0000;FS=4.505;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.29;ReadPosRankSum=-2.112e+00;SOR=0.396	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1362	20	0	1	0
chr13	113407715	113407715	G	A	exonic	LOC101928841	.	nonsynonymous SNV	LOC101928841:NM_001304433:exon2:c.C475T:p.R159C	.	.	3	221	2	0	0	2	0.0045045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs952202574	2.038e-05	2.052e-05	2.456e-05	1.57e-05	0.0024	1.334e-05	1.139e-05	0.0011	0.0008	0	0	6.948e-05	0	0	0.0024	8.696e-06	9.159e-05	0.0001	2.627e-05	2.626e-05	2.568e-05	2.689e-05	0.0004	8.14e-06	5.14e-06	7.282e-05	3.026e-05	0	0	6.539e-05	0	0	0	0	1.47e-05	0	0.0004	.	.	.	0.1	0.38742	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.16447	.	.	.	.	.	.	.	0.08668122	0.14757	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017619	0.14345	T	.	.	.	.	.	.	.	.	.	0.637136	0.25071	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.41858	B	.	.	2.023837	0.25718	16.86	0.574076861028608	0.05762	0.07267	0.13291	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.998188589727213	0.36545	0.056701	0.00814	0	0.059962	0.00310	0	0.074216	0.02223	0	0.062806	0.01542	0	0.0637543	0.15253	2.77	0.384	0.15467	-0.447000	0.06901	-1.510000	0.05277	-0.299000	0.06208	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2806:0.3771:0.3423	3.728	0.08011	976	0.04745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	769.98	36	chr13	113407715	.	G	A	769.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=826;ExcessHet=0.0000;FS=1.925;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.41;ReadPosRankSum=1.79;SOR=0.495	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1362	20	0	1	0
chr13	113453256	113453256	A	G	exonic	ADPRHL1	.	nonsynonymous SNV	ADPRHL1:NM_138430:exon1:c.T182C:p.M61T,	.	.	430	1028	57	7	0	71	0.0333803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.684	P	0.419	B	0.000	D	1.000	D	2.215	M	1.25	T	-0.912	T	0.105	T	0.827	3.882	19.73	5.73	2.186	8.513	16.017	0.491	.	0.0067	0.00658946	0.0079	0.0008	0.0048	0.0003	0.0021	0.0076	0.0055	0.0219	0.0074061	1145	154602	rs138029763	0.0079	0.0079	0.0072	0.0085	0.0234	0.0078	0.0077	0.0225	0.0222	0.0013	0.0045	0.0113	5.038e-05	0.0016	0.0196	0.0074	0.0084	0.0234	0.0054	0.0054	0.0051	0.0057	0.0226	0.0051	0.0050	0.0192	0.0179	0.0013	0	0.0037	0.0150	0	0.0020	0.0170	0.0074	0.0080	0.0226	0.001	0.78490	D	0.002	0.83351	D	0.684	0.41517	P	0.419	0.45047	B	0.000000	0.84330	D	0.043136	0.999991	0.58761	D	3.265	0.90016	M	1.25	0.36512	T	-5.04	0.82638	D	0.624	0.82458	-0.9117	0.46645	T	0.105	0.38440	T	10	0.00862059	0.00195	T	.	.	.	0.491	0.77783	.	.	0.465294738428	0.46155	0.8717619787962976	0.87142	0.408364827475	0.41678	0.693786382675	0.66250	T	0.108391	0.57159	T	-0.113658	0.34163	T	0.0815474	0.75682	D	0.0660605591948189	0.08087	T	0.866613	0.56692	D	0.9090536	0.92206	0.9600876	0.98976	0.9090536	0.92207	0.9600876	0.98977	-13.806	0.92409	D	.	.	0.839	0.79189	P	.;.	.;.	4.357196	0.66971	25.0	0.99295426865872471	0.58433	0.98624	0.84831	D	AEFDBCI	0.938560	0.93793	D	0.522034606122977	0.68396	5.211239	0.566835519589783	0.72577	5.831745	0.999999999999811	0.74766	0.421363	0.06395	0	0.379588	0.06130	0	0.536957	0.11973	0	0.491896	0.07777	0	.	.	5.73	5.73	0.89730	8.502000	0.90336	10.946000	0.84370	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.849000	0.40138	1.0:0.0:0.0:0.0	16.017	0.80250	976	0.04745	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2183.11	35	chr13	113453256	.	A	G	2183.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.290e+00;DP=851;ExcessHet=0.1072;FS=1.169;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.08;ReadPosRankSum=1.72;SOR=0.815	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	19	0	2	0
chr13	113453280	113453280	C	T	exonic	ADPRHL1	.	stopgain	ADPRHL1:NM_138430:exon1:c.G158A:p.W53X,	.	.	423	1098	1	0	0	1	0.000455166	.	.	713850	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	5.919	36	5.6	2.639	7.119	19.599	.	.	7.7e-05	0.000199681	0.0006	0	8.639e-05	0	0	9.001e-05	0.0033	0.0038	0.0004722	73	154602	rs200853560	0.0003	0.0003	0.0002	0.0005	0.0041	0.0003	0.0003	0.0037	0.0036	0.0001	0.0002	7.652e-05	0	0	0.0010	6.565e-05	0.0003	0.0041	0.0001	0.0001	0.0001	0.0001	0.0017	9.738e-05	8.253e-05	0.0008	0.0006	9.621e-05	0	0.0002	0	0	0	0.0068	4.411e-05	0.0009	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.094	0.25499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244532	0.78088	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	9.832528	0.99357	43	0.99484978345732045	0.67124	0.98137	0.79915	D	AEFDBCI	0.277312	0.39185	N	0.847314957826943	0.88955	9.77712	0.705009070416115	0.82760	7.847278	1.0	0.98316	0.421363	0.06395	0	0.379588	0.06130	0	0.536957	0.11973	0	0.491896	0.07777	0	.	.	5.6	5.6	0.84997	7.199000	0.77351	5.821000	0.50083	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.183000	0.21389	0.0:1.0:0.0:0.0	19.599	0.95546	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1390.98	35	chr13	113453280	.	C	T	1390.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=833;ExcessHet=0.0000;FS=2.329;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.13;ReadPosRankSum=-1.590e+00;SOR=0.922	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr13	113480723	113480723	T	C	exonic	DCUN1D2	.	nonsynonymous SNV	DCUN1D2:NM_001014283:exon3:c.A241G:p.I81V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.739	P	0.377	B	0.000	D	1.000	D	2.33	M	1.04	T	-0.928	T	0.136	T	0.35	3.174	16.62	3.86	0.875	5.597	10.902	0.090	0.00907737449842	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.038	0.51421	D	0.739	0.42933	P	0.377	0.43762	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.99	0.53851	M	1.04	0.40218	T	-0.83	0.24898	N	0.281	0.31814	-0.9285	0.44357	T	0.136	0.45203	T	10	0.2532407	0.42689	T	0.009077	0.23893	T	0.090	0.26093	0.584	0.71118	0.528561964389	0.52502	0.5011895694990095	0.50040	0.242302907298	0.26741	0.4374358356	0.30227	T	0.046162	0.38530	T	-0.0694211	0.41421	T	-0.337495	0.40629	T	0.845690846443176	0.49798	D	0.952305	0.94093	D	0.44536456	0.63747	0.13460481	0.32250	0.44536456	0.63748	0.13460481	0.32250	-6.802	0.52574	T	.	.	0.245	0.60432	B	.;.;.;.	.;.;.;.	3.179573	0.43155	21.7	0.99709433512500312	0.81213	0.95010	0.63111	D	AEBI	0.507935	0.53802	D	0.311049090051056	0.56714	3.836706	0.324689411970498	0.56995	3.863829	0.999999876568844	0.74766	0.736574	0.97449	0	0.743671	0.97443	0	0.732669	0.93749	0	0.635551	0.53088	0	.	.	5.04	3.86	0.43689	5.619000	0.67408	4.670000	0.44274	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0742:0.0:0.9258	10.902	0.46265	940	0.13648	Potentiating neddylation domain;Potentiating neddylation domain;Potentiating neddylation domain;Potentiating neddylation domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	761.98	34	chr13	113480723	.	T	C	761.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.754e+00;DP=798;ExcessHet=0.0000;FS=3.910;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.02;ReadPosRankSum=-4.900e-02;SOR=0.405	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1211	20	0	1	0
chr13	113510409	113510409	C	T	exonic	TMCO3	.	nonsynonymous SNV	TMCO3:NM_001349742:exon6:c.C1018T:p.R340W	.	.	.	.	.	.	.	.	.	.	.	2357503	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.983	D	0.000	D	0.998	D	1.645	L	2.23	T	-0.986	T	0.148	T	0.453	1.709	11.67	2.12	0.100	5.429	8.075	0.237	0.0409468977604	.	.	8.304e-05	0	0	0.0005	0	7.528e-05	0	6.299e-05	7.76e-05	12	154602	rs752452729	9.245e-05	9.235e-05	8.994e-05	9.5e-05	0.0001	7.967e-05	7.439e-05	9.207e-05	8.615e-05	2.991e-05	6.717e-05	0	0.0001	0	0	0.0001	4.976e-05	3.484e-05	3.944e-05	3.941e-05	2.57e-05	5.383e-05	8.819e-05	1.716e-05	1.13e-05	3.761e-05	2.575e-05	0	0	0	0	0	0	0	8.819e-05	0	0	0.004	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.983	0.75793	D	0.000002	0.62929	D	0.059161	0.997639	0.44054	D	2.135	0.59519	M	1.15	0.38236	T	-1.83	0.47683	N	0.757	0.81758	-0.9857	0.33663	T	0.148	0.47326	T	10	0.21024647	0.37413	T	0.040947	0.59658	D	0.237	0.54074	0.577	0.70217	0.162503812791	0.15892	0.7042283382936141	0.70364	0.890069565383	0.70193	0.584398269653	0.50705	T	0.020178	0.15936	T	-0.261083	0.12773	T	-0.31248	0.43392	T	0.282185077179066	0.24263	T	0.966603	0.88252	D	0.1412473	0.32555	0.07052965	0.14995	0.1412473	0.32555	0.07052965	0.14995	-10.844	0.82802	D	.	.	0.146	0.45421	B	.;.;.;.	.;.;.;.	4.669736	0.74619	26.2	0.9956574375050945	0.72075	0.90754	0.52198	D	AEFDBI	0.534598	0.55357	D	-0.0698350893667075	0.38721	2.272212	-0.221649524557981	0.30762	1.734828	0.984648065706452	0.30751	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.99	2.12	0.26372	5.450000	0.66369	3.188000	0.36689	-0.231000	0.07715	1.000000	0.71638	0.997000	0.33255	0.004000	0.06068	0.2771:0.6458:0.0:0.0772	8.075	0.29871	940	0.13648	Cation/H+ exchanger;.;.;Cation/H+ exchanger	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1087.98	34	chr13	113510409	.	C	T	1087.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.75;DP=794;ExcessHet=0.0000;FS=5.491;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.24;ReadPosRankSum=-6.300e-02;SOR=1.524	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1257	20	0	1	0
chr13	113735278	113735278	C	T	exonic	GRK1	.	nonsynonymous SNV	GRK1:NM_002929:exon7:c.C1607T:p.S536L,	Oguchi disease-2	YES	0	1513	4	0	5	9	0.00132013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.098	B	0.026	B	.	.	1.000	N	.	.	-0.18	T	-1.016	T	0.137	T	0.166	-0.375	2.236	2.97	0.380	0.611	9.768	0.062	0.0148089832796	.	.	0.0016	0	0	0	0	0.0006	0	0.0030	0.0001811	28	154602	rs553969577	0.0003	0.0002	0.0002	0.0003	0.0026	0.0002	0.0002	0.0023	0.0022	0.0001	0.0002	0.0022	8.398e-05	0	0.0012	4.361e-05	0.0003	0.0026	0.0002	0.0002	0.0002	0.0002	0.0025	0.0002	0.0001	0.0014	0.0011	0.0001	0	0.0003	0.0012	0	0	0	5.886e-05	0.0009	0.0025	0.473	0.08408	T	0.148	0.32675	T	0.098	0.25584	B	0.026	0.20792	B	.	.	.	.	1	0.08975	N	.	.	.	-0.18	0.65747	T	-1.48	0.36189	N	0.106	0.09066	-1.0155	0.25175	T	0.137	0.45337	T	8	0.0070494115	0.00160	T	0.014809	0.35167	T	0.062	0.17934	0.4	0.42917	0.574978667741	0.57166	0.2707733369527284	0.26990	0.0753896777869	0.08455	0.478614598513	0.35866	T	0.130905	0.46009	T	-0.495858	0.00603	T	-0.489657	0.23427	T	0.00648683678961653	0.00072	T	0.333267	0.07048	T	0.03941277	0.05437	0.062399585	0.12202	0.03941277	0.05436	0.062399585	0.12201	-5.737	0.44022	T	.	.	0.087	0.11366	B	.	.	1.323011	0.17275	13.06	0.62834844439848547	0.07065	0.21496	0.21422	N	AEFDBI	0.080822	0.16347	N	-1.01515460114956	0.08288	0.3881165	-1.03685691964651	0.08982	0.4444589	0.898845896664072	0.26036	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.79	2.97	0.33479	0.751000	0.26013	1.535000	0.27187	-0.247000	0.07223	0.000000	0.06391	0.001000	0.17328	0.029000	0.12982	0.3754:0.6246:0.0:0.0	9.768	0.39737	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1827.98	33	chr13	113735278	.	C	T	1827.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.935;DP=868;ExcessHet=0.0000;FS=0.582;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.01;ReadPosRankSum=1.19;SOR=0.760	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1110	20	0	1	0
chr13	113795181	113795181	G	C	exonic	TMEM255B	.	nonsynonymous SNV	TMEM255B:NM_001348663:exon4:c.G286C:p.V96L	.	.	436	1000	81	4	1	90	0.0426041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.975	D	0.584	P	.	.	1.000	D	2.35	M	0.43	T	-0.537	T	0.182	T	0.745	3.323	17.18	4.06	1.806	5.129	15.030	0.324	.	0.0037	0.00898562	0.0094	0.0010	0.0027	0.0001	0.0009	0.0067	0.0167	0.0377	0.0083569	1292	154602	rs150323609	0.0062	0.0062	0.0050	0.0073	0.0363	0.0060	0.0060	0.0352	0.0348	0.0009	0.0025	0.0069	0.0001	0.0007	0.0278	0.0044	0.0073	0.0363	0.0049	0.0049	0.0043	0.0056	0.0354	0.0046	0.0045	0.0311	0.0294	0.0009	0.0208	0.0030	0.0066	0.0002	0.0018	0.0170	0.0061	0.0066	0.0354	0.006	0.61437	D	0.017	0.65728	D	0.975	0.58077	D	0.584	0.50293	P	.	.	.	.	0.999994	0.58761	D	2.87	0.83286	M	0.43	0.56772	T	-2.34	0.51811	N	0.502	0.53532	-0.5375	0.67258	T	0.182	0.52934	T	9	0.0077860355	0.00177	T	.	.	.	0.324	0.64624	0.553	0.66995	0.385578977469	0.38175	0.7663973015602885	0.76588	0.250000845388	0.27578	0.656492352486	0.60908	T	0.237301	0.60496	T	-0.212264	0.19062	T	-0.0512197	0.66939	D	0.0395209149209923	0.03604	T	0.838216	0.51127	T	0.31684133	0.54372	0.35385677	0.60940	0.31684133	0.54372	0.35385677	0.60939	-9.994	0.73876	D	.	.	0.384	0.61725	A	.;.	.;.	2.309652	0.29567	18.16	0.99604973238387107	0.74456	0.92132	0.55016	D	AEFGBI	0.571454	0.57543	D	0.357397953511674	0.59132	4.090088	0.278757387613594	0.54302	3.595487	0.999999996836986	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.06	4.06	0.46572	5.500000	0.66660	5.156000	0.47774	0.647000	0.52776	1.000000	0.71638	1.000000	0.68203	0.026000	0.12556	0.0:0.0:1.0:0.0	15.030	0.71357	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1648.98	34	chr13	113795181	.	G	C	1648.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.340e-01;DP=927;ExcessHet=0.0000;FS=1.226;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.31;ReadPosRankSum=-4.030e-01;SOR=0.802	GT:AD:DP:GQ:PL	0/1:83,77:160:99:1663,0,1816	20	0	1	0
chr13	113835521	113835521	G	A	exonic	GAS6	.	nonsynonymous SNV	GAS6:NM_000820:exon7:c.C704T:p.A235V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.001	B	0.003	B	.	.	1.000	D	0.345	N	-2.98	D	-0.578	T	0.480	T	0.068	1.510	11.00	1.37	0.015	1.013	5.467	0.165	0.218725133341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.84e-07	0	1.377e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.16958	T	0.39	0.15506	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	0.65	0.16133	N	-2.98	0.92057	D	-0.8	0.22078	N	0.101	0.08366	-0.5782	0.65688	T	0.480	0.80134	T	9	0.38099682	0.54193	T	0.218725	0.87672	D	0.165	0.42395	0.514	0.61307	0.808454288391	0.80665	0.16126849460256698	0.16047	0.34022045831	0.35964	0.308840632439	0.11731	T	0.463676	0.79953	T	-0.0834377	0.39153	T	-0.357629	0.38328	T	0.127052941238181	0.15107	T	0.516748	0.16663	T	0.021249633	0.00718	0.04746947	0.06844	0.021249633	0.00718	0.04746947	0.06843	-5.132	0.38242	T	.	.	0.100	0.17016	B	.	.	3.202963	0.43564	21.8	0.99118201567006703	0.52906	0.62316	0.31744	D	AEFBCI	0.151484	0.27598	N	-0.643545764941454	0.17647	0.9099306	-0.528171763136365	0.21389	1.156872	0.999668797239827	0.41534	0.706548	0.73137	0	0.514364	0.08380	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.71	1.37	0.21200	1.120000	0.30885	1.127000	0.24293	0.502000	0.22824	0.960000	0.33603	0.361000	0.24521	0.018000	0.11154	0.2235:0.1974:0.5791:0.0	5.467	0.15945	856	0.34373	EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	546.98	35	chr13	113835521	.	G	A	546.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=765;ExcessHet=0.0000;FS=3.530;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.82;ReadPosRankSum=0.116;SOR=0.985	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1052	20	0	1	0
chr13	114301925	114301925	G	A	exonic	UPF3A	.	nonsynonymous SNV	UPF3A:NM_001353644:exon7:c.G599A:p.S200N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	B	0.006	B	0.609	N	0.995	N	0.665	N	1.46	T	-0.921	T	0.248	T	0.01	-0.068	3.670	1.66	0.528	0.460	3.160	0.077	0.0131570505153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.393	0.10730	T	0.789	0.05707	T	0.002	0.15535	B	0.003	0.12133	B	0.608642	0.10888	N	0.847047	0.995395	0.23301	N	1.01	0.25309	L	-1.42	0.80645	T	-0.42	0.14193	N	0.106	0.12198	-0.9209	0.45431	T	0.248	0.61704	T	9	0.08412802	0.14067	T	0.013157	0.32344	T	0.077	0.22490	0.218	0.13932	0.826173596387	0.82452	0.028771188836604556	0.02827	0.161903528534	0.18264	0.361519306898	0.19607	T	0.001425	0.00883	T	-0.199017	0.20947	T	-0.52365	0.19925	T	0.0504586418347531	0.05581	T	0.519248	0.16884	T	0.019892972	0.00530	0.033765323	0.02327	0.019892972	0.00530	0.033765323	0.02326	-5.504	0.41905	T	.	.	0.086	0.17700	B	.;.	.;.	0.211766	0.05954	2.392	0.75584978553886684	0.11132	0.71590	0.35079	D	AEFBI	0.084446	0.17114	N	-0.564472322985564	0.20031	1.053027	-0.470573285432233	0.22969	1.250237	0.809908035207129	0.24336	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.94	1.66	0.23081	0.580000	0.23505	0.289000	0.16851	0.676000	0.76740	1.000000	0.71638	0.000000	0.08366	0.027000	0.12703	0.3857:0.0:0.4205:0.1938	3.160	0.06128	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.06667	91.67	58	chr13	114301925	.	G	A	91.67	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-2.081e+00;DP=1079;ExcessHet=0.1128;FS=235.703;InbreedingCoeff=-0.1606;MLEAC=3;MLEAF=0.100;MQ=53.56;MQRankSum=-4.630e-01;QD=0.76;ReadPosRankSum=0.970;SOR=8.349	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1199	13	0	2	6
chr14	18601706	18601706	G	A	exonic	OR11H12	.	nonsynonymous SNV	OR11H12:NM_001013354:exon1:c.G590A:p.G197E,	.	.	521	990	11	0	0	11	0.00552486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.781	P	0.43	B	0.001	D	0.987	N	1.405	L	8.8	T	-1.008	T	0.000	T	0.315	0.644	7.456	0.585	0.619	-1.873	4.458	0.065	0.00462199078438	.	.	0.0007	0.0010	0.0095	0	0	0.0002	0	0	3.84e-05	1	26028	rs748013299	1.098e-05	0.0003	1.092e-05	1.103e-05	0.0002	6.5e-06	5.26e-06	0.0001	7.382e-05	0	0.0001	0	0.0002	0	0	9.001e-07	0	1.162e-05	0.0004	0.0020	0.0003	0.0005	0.0032	0.0003	0.0003	0.0025	0.0022	4.961e-05	0	0.0032	0	0.0010	0	0	7.505e-05	0.0005	0.0009	0.069	0.35537	T	0.399	0.15059	T	0.781	0.44300	P	0.43	0.45392	B	0.000707	0.42254	D	0.000000	.	.	.	1.675	0.43121	L	8.8	0.00050	T	-4.77	0.80425	D	0.122	0.11340	-1.0080	0.27541	T	0.000	0.00114	T	9	0.011298597	0.00248	T	0.004622	0.11440	T	0.065	0.18881	.	.	0.404793603054	0.40094	0.06917515607333054	0.06855	3.52078213034	0.99770	0.306855976582	0.11431	T	0.014086	0.12058	T	-0.250975	0.13978	T	-0.598285	0.12955	T	0.146298558948791	0.16805	T	0.518348	0.16810	T	0.35167694	0.57197	0.23873909	0.49204	0.35167694	0.57197	0.23873909	0.49203	-7.202	0.55496	T	.	.	0.128	0.27283	B	.	.	2.292536	0.29327	18.09	0.86779382392739934	0.16767	0.00328	0.01715	N	AEFI	0.026172	0.01919	N	-0.831145875182917	0.12519	0.6107228	-1.03730447137808	0.08973	0.4439269	1.23754932233703E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.585	0.585	0.16611	-1.252000	0.02990	.	.	0.221000	0.18078	0.000000	0.06391	0.978000	0.30204	0.210000	0.22183	0.0:0.4258:0.5742:1.0E-4	4.458	0.11075	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	143.33	262	chr14	18601706	.	G	A	143.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.17;DP=5484;ExcessHet=0.0000;FS=2.669;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=32.27;MQRankSum=1.12;QD=0.60;ReadPosRankSum=-1.493e+00;SOR=1.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:338,0:338:99:.:.:0,120,1800	19	0	1	1
chr14	18601808	18601808	G	A	exonic	OR11H12	.	nonsynonymous SNV	OR11H12:NM_001013354:exon1:c.G692A:p.G231E,	.	.	463	1056	3	0	0	3	0.00141844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.794	P	0.43	B	0.967	N	0.999	N	2.795	M	1.19	T	-0.917	T	0.121	T	0.316	0.554	6.999	0.585	0.619	-1.043	4.458	0.097	0.00943555002988	.	.	0.0005	0	0	0	0	0	0	0.0087	0.0001537	4	26028	rs752826268	0.0005	0.0005	0.0003	0.0007	0.0063	0.0004	0.0004	0.0058	0.0057	5.989e-05	4.474e-05	0	0	0	0.0007	7.555e-05	0.0007	0.0063	0.0002	0.0002	0.0002	0.0003	0.0050	0.0002	0.0001	0.0035	0.0029	4.936e-05	0	6.638e-05	0	0	0	0.0137	2.949e-05	0.0005	0.0050	0.079	0.33753	T	0.258	0.23164	T	0.794	0.44757	P	0.43	0.45392	B	0.966947	0.07753	N	1.024520	.	.	.	2.785	0.81254	M	1.19	0.37578	T	-5.08	0.82896	D	0.152	0.15609	-0.9175	0.45891	T	0.121	0.42122	T	9	0.011373997	0.00249	T	0.009436	0.24739	T	0.097	0.27909	0.463	0.53242	0.396908593892	0.39302	0.07345809927279849	0.07282	3.50374879105	0.99750	0.282368928194	0.07825	T	0.048035	0.27900	T	-0.524892	0.00412	T	-0.520491	0.20245	T	0.118272027499504	0.14260	T	0.605739	0.22785	T	0.20750223	0.42958	0.19545688	0.43223	0.20750223	0.42957	0.19545688	0.43222	-10.795	0.78521	D	.	.	0.242	0.47622	B	.	.	1.207679	0.16006	12.25	0.87413793728676636	0.17210	0.00353	0.01817	N	AEFI	0.020334	0.00793	N	-0.539858841723168	0.20803	1.099379	-0.792498046615377	0.14679	0.768237	1.13830555641891E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.585	0.585	0.16611	-2.233000	0.01287	.	.	-1.881000	0.00542	0.000000	0.06391	0.220000	0.23707	0.008000	0.08271	0.0:0.4258:0.5742:1.0E-4	4.458	0.11075	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	2129.33	189	chr14	18601808	.	G	A	2129.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.81;DP=3054;ExcessHet=0.0000;FS=0.519;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=30.45;MQRankSum=-1.697e+00;QD=10.65;ReadPosRankSum=1.10;SOR=0.650	GT:AD:DP:GQ:PL	0/0:263,0:263:99:0,120,1800	19	0	1	1
chr14	18601979	18601979	T	G	exonic	OR11H12	.	nonsynonymous SNV	OR11H12:NM_001013354:exon1:c.T863G:p.I288S,	.	.	512	1009	1	0	0	1	0.000495295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.903	P	0.761	P	0.681	N	0.985	N	2.355	M	8.65	T	-0.964	T	0.001	T	0.257	1.223	9.963	0.585	0.518	1.365	2.750	0.034	0.00271816116405	.	.	.	.	.	.	.	.	.	.	.	.	.	rs954928636	4.448e-05	4.29e-05	4.241e-05	4.651e-05	0.0015	3.498e-05	3.139e-05	0.0011	0.0010	0.0015	0	0	0	0	0	1.088e-06	0.0002	3.777e-05	0.0002	0.0003	0.0002	0.0003	0.0009	0.0002	0.0002	0.0007	0.0006	0.0009	0	0.0002	0	0	0	0	0	0	0	0.002	0.72154	D	0.004	0.74150	D	0.903	0.49795	P	0.761	0.56482	P	0.680704	0.10261	N	0.768760	.	.	.	2.69	0.78713	M	8.65	0.00144	T	-4.49	0.78046	D	0.224	0.25130	-0.9639	0.38428	T	0.001	0.00318	T	9	0.076001465	0.11816	T	0.002718	0.05608	T	0.034	0.08419	.	.	0.280695755116	0.27685	0.07045609638600409	0.06982	3.09264733632	0.99373	0.372240662575	0.21153	T	0.013904	0.11938	T	-0.489754	0.00652	T	-0.516807	0.20618	T	0.178454074316469	0.19137	T	0.70313	0.31322	T	0.40450907	0.61043	0.30552417	0.56579	0.40450907	0.61044	0.30552417	0.56578	-4.878	0.35487	T	.	.	0.116	0.23500	B	.	.	2.354790	0.30192	18.36	0.976900572412855	0.35370	0.01018	0.03833	N	AEFI	0.029975	0.02927	N	-0.402955652484698	0.25365	1.37641	-0.708421449005885	0.16751	0.8876049	1.24780404202067E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.585	0.585	0.16611	2.133000	0.41716	.	.	0.228000	0.18124	0.013000	0.18845	0.067000	0.22148	0.034000	0.13613	0.0:0.3477:0.0:0.6523	2.750	0.04954	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	2002.33	38	chr14	18601979	.	T	G	2002.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-7.047e+00;DP=939;ExcessHet=0.0000;FS=65.947;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=30.08;MQRankSum=3.79;QD=14.72;ReadPosRankSum=0.614;SOR=0.004	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1620	19	0	1	1
chr14	18967726	18967726	G	A	exonic	POTEM	.	nonsynonymous SNV	POTEM:NM_001145442:exon1:c.G241A:p.G81S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.929	P	0.703	P	.	.	1.000	N	1.845	L	1.54	T	-1.026	T	0.094	T	0.211	1.105	9.509	-0.681	-0.499	-0.496	.	0.050	0.00261847330627	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs756987079	1.369e-06	2.121e-05	0	2.752e-06	0.0003	2.3e-07	9e-08	6.111e-05	2.528e-05	0	0	0	0	0	0.0003	0	0	0	6.661e-06	1.314e-05	0	1.364e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.037	0.43085	D	0.196	0.27943	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.54	0.30133	T	-1.43	0.35194	N	0.231	0.25989	-1.0261	0.21723	T	0.094	0.35658	T	8	0.13627478	0.25929	T	0.002618	0.05320	T	.	.	0.263	0.20788	0.0138822411134	0.00435	0.014644173132419816	0.01421	.	.	0.437503039837	0.30236	T	0.00774	0.07126	T	-0.265497	0.12264	T	-0.619145	0.11251	T	0.208514199354323	0.20875	T	0.783222	0.41972	T	0.049680546	0.08859	0.11454196	0.27649	0.049680546	0.08858	0.11454196	0.27648	-8.384	0.63659	D	.	.	0.148	0.32685	B	.	.	1.724403	0.21953	15.42	0.97946537005706302	0.37071	0.00085	0.00571	N	AEFI	0.027162	0.02168	N	-0.779357107906552	0.13849	0.6852786	-1.09079948269574	0.07881	0.3851249	1.41018998359559E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.34	-0.681	0.10772	-0.263000	0.08695	.	.	-1.015000	0.01753	0.005000	0.17040	0.000000	0.08366	0.002000	0.04165	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	331.98	103	chr14	18967726	.	G	A	331.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.483e+00;DP=2916;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=44.77;MQRankSum=-6.107e+00;QD=0.70;ReadPosRankSum=3.35;SOR=0.675	GT:AD:DP:GQ:PL	0/0:105,0:105:99:0,106,1620	20	0	1	0
chr14	19413371	19413371	C	A	exonic	POTEG	.	nonsynonymous SNV	POTEG:NM_001005356:exon9:c.G1392T:p.E464D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.944	P	0.446	B	.	.	1.000	N	0.975	L	1.43	T	-1.055	T	0.050	T	0.257	1.140	9.645	-0.621	-0.210	-0.741	4.013	0.084	0.0012850884948	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455494252	0.0007	0.0012	0.0005	0.0010	0.0077	0.0007	0.0007	0.0072	0.0069	9.939e-05	0.0002	0	0.0001	0.0001	0.0025	0.0003	0.0008	0.0077	0.0001	0.0005	0.0001	0.0001	0.0021	6.691e-05	5.081e-05	0.0007	0.0004	0	0	0	0	0	0	0	0.0001	0	0.0021	0.0	0.91255	D	0.475	0.12072	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.99	0.41750	T	-0.66	0.19085	N	0.089	0.06720	-1.0548	0.13093	T	0.050	0.21378	T	8	0.0747537	0.11466	T	0.001285	0.01759	T	.	.	0.261	0.20473	0.0934897674506	0.08844	0.011699981048302372	0.01129	.	.	0.731519818306	0.71728	T	0.003934	0.03343	T	-0.198075	0.21082	T	-0.522298	0.20062	T	0.156079471010915	0.17578	T	0.686031	0.29438	T	0.047692206	0.08195	0.07661035	0.16986	0.047692206	0.08194	0.07661035	0.16985	-4.393	0.29462	T	.	.	0.134	0.29060	B	.	.	0.704465	0.10733	7.423	0.98525236240178171	0.42520	0.00743	0.03099	N	AEFI	0.031355	0.03337	N	-1.07052320312634	0.07191	0.3333102	-1.28723328962108	0.04602	0.2174681	1.18907660551628E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.4	-0.621	0.10984	-0.917000	0.04134	-1.365000	0.05612	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.5474:0.0:0.4526	4.013	0.09117	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	66.73	36	chr14	19413371	.	C	A	66.73	.	AC=2;AF=0.048;AN=42;DP=466;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.8800;MLEAC=1;MLEAF=0.024;MQ=25.00;QD=22.24;SOR=2.833	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,1125	20	1	0	0
chr14	19414588	19414588	C	T	exonic	POTEG	.	nonsynonymous SNV	POTEG:NM_001005356:exon8:c.G1216A:p.E406K,	.	.	470	1049	3	0	0	3	0.00142789	.	.	2386392	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.963	D	0.63	P	.	.	1.000	N	0.695	N	1.86	T	-1.060	T	0.049	T	0.196	1.686	11.60	0.993	0.847	1.401	5.373	0.031	0.00161812013841	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs574058720	9.685e-05	0.0002	8.391e-05	0.0001	0.0007	8.335e-05	7.87e-05	0.0004	0.0003	3.024e-05	0.0001	0.0009	0	1.894e-05	0.0007	5.161e-05	0.0001	0.0005	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	2.443e-05	0	0.0003	0.0006	0	0	0	0.0003	0	0.0007	0.007	0.59928	D	0.299	0.20422	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.86	0.24285	T	-0.78	0.21644	N	0.239	0.26957	-1.0598	0.11805	T	0.049	0.20711	T	8	0.14332548	0.27212	T	0.001618	0.02625	T	.	.	0.36	0.36385	0.0675242888579	0.06100	0.022518106362677873	0.02203	.	.	0.765689849854	0.76778	T	0.003777	0.03181	T	-0.224203	0.17424	T	-0.559829	0.16392	T	0.451883063440089	0.30866	T	0.817418	0.47426	T	0.03920125	0.05369	0.10928685	0.26337	0.03920125	0.05368	0.10928685	0.26336	-4.775	0.34298	T	.	.	0.087	0.10979	B	.	.	2.053941	0.26112	17.00	0.98349638868434719	0.40527	0.02644	0.07246	N	AEFI	0.038442	0.05440	N	-0.583202055116734	0.19454	1.018347	-0.799017032418183	0.14519	0.7590402	1.96308778356445E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.993	0.993	0.18943	1.547000	0.35798	-1.189000	0.06074	0.284000	0.18682	0.073000	0.22155	0.000000	0.08366	0.016000	0.10718	0.0:1.0:0.0:0.0	5.373	0.15451	994	0.00715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	89.98	381	chr14	19414588	.	C	T	89.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=1107;ExcessHet=0.0000;FS=0.611;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.94;MQRankSum=-4.375e+00;QD=0.24;ReadPosRankSum=0.812;SOR=0.791	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	20	0	1	0
chr14	19433935	19433935	G	C	exonic	POTEG	.	nonsynonymous SNV	POTEG:NM_001005356:exon1:c.C355G:p.P119A,	.	.	364	1154	4	0	0	4	0.0017301	.	.	2214072	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	.	.	1.000	N	-1.01	N	1.87	T	-0.960	T	0.017	T	0.178	-3.074	0.001	-0.649	-0.165	-1.331	.	0.023	0.00209131657376	.	.	2.808e-05	0	0	0	0	0	0	0.0002	3.84e-05	1	26028	rs759900307	0.0006	0.0075	0.0007	0.0006	0.0009	0.0006	0.0006	0.0007	0.0007	0.0002	0.0009	0.0002	2.519e-05	0.0001	0.0003	0.0007	0.0007	8.126e-05	0.0009	0.0055	0.0009	0.0009	0.0018	0.0008	0.0007	0.0013	0.0011	0.0002	0	0.0018	0.0003	0	0.0003	0	0.0014	0.0014	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.91	0.23283	T	1.83	0.00495	N	0.056	0.02759	-0.9602	0.39143	T	0.017	0.06902	T	7	0.0172081	0.00366	T	0.002091	0.03855	T	.	.	0.375	0.38830	0.0675242888579	0.06100	0.009413011583946312	0.00904	.	.	0.402597218752	0.25430	T	0.01107	0.09921	T	-0.464189	0.00925	T	-0.706235	0.05491	T	0.0358295521419214	0.02951	T	0.461354	0.13375	T	0.025153803	0.01421	0.076945715	0.17094	0.025153803	0.01421	0.076945715	0.17094	-2.035	0.03315	T	.	.	0.049	0.00114	B	.	.	-1.448834	0.00327	0.006	0.16372977981777795	0.00436	0.00021	0.00226	N	AEFI	0.012668	0.00144	N	-1.77491957106947	0.00609	0.02626729	-1.80291681385014	0.00750	0.03342532	1.17460808258681E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.713	-0.649	0.10885	-1.647000	0.02098	-6.553000	0.01367	-0.769000	0.03460	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	151.98	1021	chr14	19433935	.	G	C	151.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.63;DP=18280;ExcessHet=0.0000;FS=0.908;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=40.95;MQRankSum=-1.511e+00;QD=0.08;ReadPosRankSum=-4.280e-01;SOR=0.929	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1070,0:1070:99:.:.:0,120,1800	20	0	1	0
chr14	19434034	19434034	G	C	exonic	POTEG	.	nonsynonymous SNV	POTEG:NM_001005356:exon1:c.C256G:p.H86D,	.	.	427	1069	26	0	0	26	0.0120148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	B	0.039	B	.	.	1.000	N	1.24	L	1.49	T	-1.032	T	0.050	T	0.272	-0.159	3.224	.	0.483	-0.566	.	0.007	0.00156188237123	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs146829084	0.0014	0.0017	0.0010	0.0018	0.0146	0.0014	0.0013	0.0139	0.0136	0.0003	0.0004	0.0005	3.132e-05	0.0002	0.0093	0.0007	0.0017	0.0146	0.0009	0.0012	0.0007	0.0012	0.0128	0.0008	0.0008	0.0101	0.0091	0.0001	0	0.0009	0.0009	0	0.0005	0.0043	0.0007	0.0025	0.0128	0.025	0.47320	D	0.263	0.22828	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.53	0.30401	T	-1.1	0.28497	N	0.264	0.29889	-1.0316	0.19937	T	0.050	0.21339	T	6	0.008307308	0.00188	T	0.001562	0.02471	T	.	.	0.322	0.30226	0.200294437569	0.19612	0.016831770812088642	0.01638	.	.	0.592665612698	0.51870	T	0.006287	0.05726	T	-0.246989	0.14471	T	-0.592559	0.13445	T	0.0595772515591679	0.07101	T	0.623938	0.24053	T	0.052697938	0.09867	0.12936428	0.31105	0.052697938	0.09866	0.12936428	0.31105	-7.677	0.58848	D	.	.	0.089	0.12132	B	.	.	0.887264	0.12606	9.133	0.71549487364888009	0.09667	0.00673	0.02898	N	AEFI	0.031461	0.03370	N	-1.08682113796644	0.06885	0.3182525	-1.24599346805238	0.05190	0.2467232	1.24656028350294E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-0.835000	0.04494	-1.086000	0.06374	0.202000	0.17929	0.001000	0.13787	0.000000	0.08366	0.010000	0.09038	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04167	2791.24	687	chr14	19434034	.	G	C	2791.24	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-6.380e+00;DP=15017;ExcessHet=0.0000;FS=4.688;InbreedingCoeff=0.1429;MLEAC=2;MLEAF=0.083;MQ=40.11;MQRankSum=14.15;QD=5.90;ReadPosRankSum=7.27;SOR=0.395	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:1262,0:1262:0:.:.:0,0,4407	11	0	1	9
chr14	19434189	19434189	C	A	exonic	POTEG	.	nonsynonymous SNV	POTEG:NM_001005356:exon1:c.G101T:p.W34L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	.	.	1.000	N	0	N	1.81	T	-0.976	T	0.026	T	0.237	0.017	4.102	.	0.269	-0.375	.	0.021	0.00128155769921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.334	0.18340	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.83	0.24841	T	-0.17	0.09627	N	0.297	0.33578	-0.9761	0.35882	T	0.026	0.11220	T	6	0.08202469	0.13491	T	0.001282	0.01759	T	.	.	0.428	0.47515	0.110392049598	0.10638	0.006842289954473786	0.00651	.	.	0.519134283066	0.41504	T	0.002626	0.02014	T	-0.25332	0.13694	T	-0.601653	0.12672	T	0.0867556776392362	0.10828	T	0.70423	0.31438	T	0.07382534	0.16523	0.17921346	0.40641	0.07382534	0.16523	0.17921346	0.40640	-7.762	0.59437	D	.	.	0.139	0.30318	B	.	.	1.359874	0.17685	13.31	0.88747933187766637	0.18223	0.00411	0.02041	N	AEFI	0.028133	0.02424	N	-1.26738364565772	0.04075	0.1832279	-1.35986475374021	0.03691	0.172692	1.13825100950466E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-0.197000	0.09519	-6.288000	0.01441	0.188000	0.17839	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1798.98	648	chr14	19434189	.	C	A	1798.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.460e-01;DP=9117;ExcessHet=0.0000;FS=3.395;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.33;MQRankSum=4.76;QD=2.52;ReadPosRankSum=-2.618e+00;SOR=0.967	GT:AD:DP:GQ:PL	0/0:551,0:551:99:0,120,1800	20	0	1	0
chr14	19713189	19713189	A	G	exonic	OR11H2	.	nonsynonymous SNV	OR11H2:NM_001197287:exon2:c.T728C:p.M243T,	.	.	489	1017	14	0	2	16	0.00683594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0.0033	0.0103	0	0.0015	0.0006	0.0028	0.0011	3.84e-05	1	26028	rs1590546	0.0004	0.0011	0.0004	0.0005	0.0029	0.0004	0.0004	0.0019	0.0017	0.0023	0.0021	3.833e-05	0.0006	7.526e-05	0.0029	0.0002	0.0007	0.0014	0.0010	0.0017	0.0009	0.0011	0.0026	0.0009	0.0008	0.0022	0.0020	0.0026	0	0.0008	0	0.0006	0.0004	0	0.0003	0	0.0018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.595	0.40691	L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012151003	0.00262	T	.	.	.	.	.	.	.	0.166414681773	0.16258	0.09044129637984567	0.08977	.	.	0.24798822403	0.03559	T	0.011333	0.10128	T	0.0643397	0.60154	T	-0.145357	0.59653	T	.	.	.	0.40306	0.10319	T	0.25926927	0.48979	0.3451211	0.60199	0.25926927	0.48979	0.3451211	0.60199	-6.908	0.53358	T	.	.	0.275	0.50880	B	.;.	.;.	1.734153	0.22072	15.47	0.4422263449447929	0.03384	0.03438	0.08576	N	AEFI	.	.	.	.	.	.	.	.	.	4.60436804700089E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0443002	0.02987	1.26	1.26	0.20534	0.639000	0.24378	6.816000	0.56659	0.519000	0.23678	0.000000	0.06391	0.835000	0.27248	0.001000	0.02609	1.0:0.0:0.0:0.0	6.762	0.22733	994	0.00715	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2381.82	33	chr14	19713189	.	A	G	2381.82	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-2.683e+00;DP=1582;ExcessHet=0.1128;FS=1.318;InbreedingCoeff=-0.0526;MLEAC=2;MLEAF=0.050;MQ=36.54;MQRankSum=1.46;QD=6.12;ReadPosRankSum=-1.570e-01;SOR=0.616	GT:AD:DP:GQ:PL	0/1:180,40:220:99:486,0,5036	18	0	2	1
chr14	19713214	19713214	G	T	exonic	OR11H2	.	nonsynonymous SNV	OR11H2:NM_001197287:exon2:c.C703A:p.L235I,	.	.	490	1002	29	0	1	30	0.0142646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0043	0.0183	0.0016	0.0007	0.0061	0.0021	0.0055	0.0079	0.0005379	14	26028	rs11625510	0.0006	0.0020	0.0005	0.0007	0.0081	0.0006	0.0006	0.0073	0.0070	0.0081	0.0014	7.672e-05	0.0001	0.0001	0.0024	0.0002	0.0012	0.0037	0.0035	0.0071	0.0034	0.0036	0.0100	0.0033	0.0032	0.0091	0.0088	0.0100	0	0.0041	0.0003	0.0010	0.0007	0	0.0003	0.0041	0.0057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.25	0.63811	M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014848262	0.00312	T	.	.	.	.	.	.	.	0.137902524267	0.13322	0.038699843034994984	0.03815	.	.	0.206101313233	0.00656	T	0.017617	0.14339	T	-0.365507	0.03828	T	-0.291687	0.45596	T	.	.	.	0.435056	0.11905	T	0.043666393	0.06845	0.06603164	0.13469	0.043666393	0.06844	0.06603164	0.13468	-7.403	0.56926	T	.	.	0.106	0.19639	B	.;.	.;.	1.839262	0.23369	15.99	0.48104264887094	0.03987	0.02495	0.06976	N	AEFI	.	.	.	.	.	.	.	.	.	1.96441500582416E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0629501	0.15071	1.26	1.26	0.20534	-0.278000	0.08523	-5.907000	0.01557	-1.117000	0.01478	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.245:0.0:0.755:0.0	3.672	0.07814	994	0.00715	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.075	4358.77	33	chr14	19713214	.	G	T	4358.77	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-1.674e+00;DP=1966;ExcessHet=0.3476;FS=4.030;InbreedingCoeff=-0.0811;MLEAC=3;MLEAF=0.075;MQ=37.58;MQRankSum=-1.061e+00;QD=7.05;ReadPosRankSum=-1.705e+00;SOR=0.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:219,0:219:99:.:.:0,120,1800	17	0	3	1
chr14	19713218	19713218	A	C	exonic	OR11H2	.	stopgain	OR11H2:NM_001197287:exon2:c.T699G:p.Y233X,	.	.	494	1010	18	0	0	18	0.00883219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0032	0.0084	0.0016	0.0007	0.0060	0.0015	0.0053	0.0077	0.0005379	14	26028	rs527586639	0.0005	0.0016	0.0004	0.0006	0.0057	0.0005	0.0005	0.0050	0.0048	0.0057	0.0006	3.838e-05	5.045e-05	0.0002	0.0020	0.0001	0.0008	0.0035	0.0020	0.0035	0.0019	0.0022	0.0062	0.0019	0.0018	0.0056	0.0053	0.0062	0	0.0005	0	0	0.0006	0	0.0002	0.0030	0.0044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.262912	0.12561	T	-0.615431	0.11547	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.543909	0.71454	25.7	0.40378863356225114	0.02846	0.20109	0.20918	N	AEFI	.	.	.	.	.	.	.	.	.	5.45440546672236E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.12258	0.24918	1.26	-0.132	0.12831	-1.589000	0.02208	-6.001000	0.01527	-0.658000	0.04364	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.8017:0.0:0.1983:0.0	4.878	0.13025	994	0.00715	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.05263	3448.55	33	chr14	19713218	.	A	C	3448.55	.	AC=2;AF=0.053;AN=38;BaseQRankSum=8.59;DP=1976;ExcessHet=0.1128;FS=5.985;InbreedingCoeff=-0.0667;MLEAC=2;MLEAF=0.053;MQ=37.89;MQRankSum=0.019;QD=6.92;ReadPosRankSum=1.30;SOR=1.010	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:219,0:219:99:.:.:0,120,1800	17	0	2	2
chr14	19713480	19713480	A	T	exonic	OR11H2	.	nonsynonymous SNV	OR11H2:NM_001197287:exon2:c.T437A:p.L146H,	.	.	549	969	4	0	0	4	0.00205973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0112	0.0016	0	0.0037	0.0021	0	0.0007	3.84e-05	1	26028	rs1830970	0.0005	0.0017	0.0006	0.0005	0.0022	0.0005	0.0005	0.0018	0.0017	0.0022	0.0004	3.846e-05	0.0003	0.0027	0.0015	0.0004	0.0006	0.0002	0.0017	0.0039	0.0017	0.0017	0.0040	0.0015	0.0015	0.0035	0.0033	0.0040	0	0.0006	0	0.0002	0.0040	0.0071	0.0006	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.355	0.00654	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0045835674	0.00095	T	.	.	.	.	.	.	.	0.392239652056	0.38839	0.05243073493284266	0.05185	.	.	0.234286487103	0.02300	T	0.001817	0.01233	T	-0.0999725	0.36429	T	-0.38138	0.35561	T	.	.	.	0.449655	0.12671	T	0.052	0.09499	0.09457043	0.22392	0.052	0.09499	0.09457043	0.22392	-0.056	0.00369	T	.	.	0.055	0.01577	B	.;.	.;.	0.281209	0.06578	3.071	0.40910745183559194	0.02917	0.00123	0.00769	N	AEFI	.	.	.	.	.	.	.	.	.	2.2919892149888E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.110645	0.23641	1.06	1.06	0.19341	-0.639000	0.05543	-0.460000	0.09044	-0.385000	0.05372	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2794:0.0:0.0:0.7205	4.640	0.11928	994	0.00715	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025	166.33	33	chr14	19713480	.	A	T	166.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.932e+00;DP=974;ExcessHet=0.0000;FS=15.181;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=38.16;MQRankSum=-2.995e+00;QD=0.79;ReadPosRankSum=-2.114e+00;SOR=2.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530	19	0	1	1
chr14	19713490	19713490	G	T	exonic	OR11H2	.	nonsynonymous SNV	OR11H2:NM_001197287:exon2:c.C427A:p.R143S,	.	.	562	959	1	0	0	1	0.000521105	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0	0	0.0004	0	0.0009	3.84e-05	1	26028	rs773027834	1.273e-05	0.0002	1.412e-05	1.133e-05	0.0002	7.95e-06	6.56e-06	1.797e-05	8.98e-06	0	6.777e-05	0	0	0	0.0002	1.215e-05	0	1.169e-05	0.0001	0.0006	0.0002	0.0001	0.0007	9.441e-05	7.886e-05	0.0004	0.0003	0.0001	0	0.0007	0	0.0002	0.0002	0	4.73e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	0.15745	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14691746	0.27847	T	.	.	.	.	.	.	.	0.137902524267	0.13322	0.09301296821069617	0.09233	.	.	0.186354130507	0.00167	T	0.023476	0.17914	T	-0.0858611	0.38755	T	-0.180814	0.56447	T	.	.	.	0.506949	0.16072	T	0.13998564	0.32316	0.081449375	0.18509	0.13998564	0.32316	0.081449375	0.18509	-5.492	0.41793	T	.	.	0.192	0.44397	B	.;.	.;.	1.906979	0.24218	16.31	0.49845442688862368	0.04281	0.01665	0.05332	N	AEFI	.	.	.	.	.	.	.	.	.	1.89527012418565E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.110645	0.23641	1.06	1.06	0.19341	-0.593000	0.05835	-4.409000	0.02171	0.467000	0.21759	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.617:0.383	4.450	0.11036	994	0.00715	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	55.33	33	chr14	19713490	.	G	T	55.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.78;DP=953;ExcessHet=0.0000;FS=9.083;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=37.24;MQRankSum=-3.241e+00;QD=0.29;ReadPosRankSum=-9.920e-01;SOR=2.069	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530	19	0	1	1
chr14	19713679	19713679	T	C	exonic	OR11H2	.	nonsynonymous SNV	OR11H2:NM_001197287:exon2:c.A238G:p.N80D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0031	0	0.0030	0	0	0	0	3.84e-05	1	26028	rs771995552	0.0002	0.0006	0.0003	0.0002	0.0030	0.0002	0.0002	0.0025	0.0023	0.0030	0.0003	0	0.0004	0.0001	0	0.0001	0.0004	0.0002	0.0011	0.0016	0.0011	0.0010	0.0030	0.0009	0.0008	0.0025	0.0024	0.0030	0	0.0005	0	0.0006	0.0005	0	0.0001	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.23	0.89537	M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038661778	0.02300	T	.	.	.	.	.	.	.	0.202086224978	0.19791	0.19289072824617917	0.19207	.	.	0.372312784195	0.21163	T	0.162618	0.50735	T	0.0523662	0.58646	T	-0.162556	0.58122	T	.	.	.	0.645735	0.25721	T	0.11414049	0.26949	0.17386891	0.39743	0.11414049	0.26949	0.17386891	0.39742	-9.283	0.69500	D	.	.	0.186	0.47997	B	.;.	.;.	3.843768	0.55634	23.6	0.34515933490142842	0.02116	0.86254	0.45499	D	AEFI	.	.	.	.	.	.	.	.	.	4.08349673556562E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.110892	0.23672	1.06	1.06	0.19341	1.582000	0.36177	2.162000	0.30989	0.461000	0.21595	0.618000	0.27897	0.051000	0.21832	0.003000	0.05239	0.0:0.0:0.383:0.617	3.996	0.09050	994	0.00715	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	35.37	5	chr14	19713679	.	T	C	35.37	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.961e+00;DP=503;ExcessHet=0.0000;FS=19.117;InbreedingCoeff=-0.0277;MLEAC=1;MLEAF=0.025;MQ=34.06;MQRankSum=1.46;QD=1.96;ReadPosRankSum=-2.492e+00;SOR=2.775	GT:AD:DP:GQ:PL	0/0:5,0:5:15:0,15,169	19	0	1	1
chr14	19747467	19747467	C	T	exonic	OR4Q3	.	nonsynonymous SNV	OR4Q3:NM_172194:exon1:c.C40T:p.L14F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.865	P	0.386	B	0.048	U	1.000	N	1.335	L	7.6	T	-0.662	T	0.001	T	0.33	1.376	10.53	4.32	2.238	1.043	14.326	0.113	0.00402871539646	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1230555829	2.065e-06	8.893e-06	1.37e-06	2.766e-06	4.751e-05	5.5e-07	1.5e-07	7.87e-06	2.95e-06	0	4.751e-05	3.906e-05	0	0	0	0	0	0	6.582e-06	6.57e-06	1.286e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.521	0.07235	T	0.491	0.11515	T	0.865	0.47557	P	0.386	0.44011	B	0.048111	0.23282	U	0.211883	0.921477	0.27282	N	1.825	0.47900	L	7.6	0.00354	T	-1.54	0.37375	N	0.479	0.51405	-0.6617	0.62201	T	0.001	0.00318	T	10	0.20370671	0.36535	T	0.004029	0.09587	T	0.113	0.31778	0.589	0.71749	0.238705975628	0.23479	0.08334783652779561	0.08268	.	.	0.481939524412	0.36324	T	0.011164	0.09998	T	-0.213481	0.18892	T	-0.544427	0.17865	T	0.782861411571503	0.45229	D	0.79872	0.44372	T	0.14641547	0.33518	0.11176384	0.26962	0.14641547	0.33518	0.11176384	0.26961	-5.743	0.44074	T	.	.	0.131	0.28948	B	.;.	.;.	2.312658	0.29604	18.18	0.99761544863867602	0.85091	0.47688	0.28039	N	AEFGBI	0.138864	0.26029	N	0.0180985914597247	0.42677	2.576024	0.044960424297849	0.41827	2.519547	0.00128826430663138	0.08410	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.32	4.32	0.50899	0.877000	0.27756	-3.679000	0.02611	0.584000	0.30380	0.080000	0.22340	0.000000	0.08366	0.976000	0.56436	0.0:1.0:0.0:0.0	14.326	0.66081	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	43.33	69	chr14	19747467	.	C	T	43.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.305e+00;DP=1215;ExcessHet=0.0000;FS=58.534;InbreedingCoeff=-0.0372;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=0.36;ReadPosRankSum=-9.110e-01;SOR=6.325	GT:AD:DP:GQ:PL	0/0:63,0:63:99:0,120,1800	19	0	1	1
chr14	19780792	19780792	T	C	exonic	OR4M1	.	nonsynonymous SNV	OR4M1:NM_001005500:exon1:c.T470C:p.I157T,	.	.	414	1098	10	0	0	10	0.00453309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.0	B	0.0	B	0.001	N	1.000	N	1.4	L	8.66	T	-1.029	T	0.000	T	0.193	0.813	8.271	2.03	0.328	0.822	6.022	0.073	.	0.0022	0.00459265	0.0015	0.0058	0.0010	0	0	0.0007	0	0.0040	0.0015136	234	154602	rs143702311	0.0008	0.0009	0.0007	0.0008	0.0141	0.0007	0.0007	0.0117	0.0107	0.0075	0.0011	0.0053	2.519e-05	0	0.0141	0.0002	0.0015	0.0031	0.0024	0.0026	0.0025	0.0023	0.0067	0.0022	0.0021	0.0060	0.0058	0.0067	0	0.0020	0.0049	0	0	0.0171	0.0002	0.0028	0.0035	0.095	0.31235	T	0.132	0.34477	T	0.0	0.02946	B	0.0	0.01387	B	0.001037	0.40562	N	0.110114	0.999991	0.08975	N	1.185	0.30054	L	8.66	0.00139	T	-3.4	0.67014	D	0.088	0.06587	-1.0288	0.20843	T	0.000	0.00075	T	10	0.004373312	0.00089	T	.	.	.	0.073	0.21317	.	.	0.561829309373	0.55845	0.13682353132674857	0.13606	0.00245247570408	0.00212	0.397081553936	0.24662	T	0.008933	0.08161	T	-0.607178	0.00132	T	-0.640521	0.09631	T	0.00929552587605808	0.00118	T	0.784022	0.42156	T	0.1767627	0.38606	0.1598097	0.37252	0.1767627	0.38606	0.1598097	0.37252	-3.953	0.23098	T	.	.	0.136	0.29724	B	.;.	.;.	2.003067	0.25453	16.77	0.93368988381923201	0.23112	0.07921	0.13908	N	AEDGI	0.090088	0.18258	N	-0.6142428135592	0.18516	0.9619244	-0.5460116509789	0.20911	1.12883	7.75768843208787E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.43	2.03	0.25714	0.184000	0.16748	0.028000	0.13690	0.638000	0.52053	0.000000	0.06391	0.000000	0.08366	0.991000	0.66497	0.0:0.2107:0.0:0.7893	6.022	0.18863	994	0.00715	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	5271.98	236	chr14	19780792	.	T	C	5271.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.04;DP=6573;ExcessHet=0.0000;FS=1.838;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.43;MQRankSum=-6.030e-01;QD=8.16;ReadPosRankSum=-6.300e-01;SOR=0.850	GT:AD:DP:GQ:PL	0/0:305,0:305:99:0,120,1800	20	0	1	0
chr14	19868573	19868573	C	T	exonic	OR4K3	.	unknown	UNKNOWN,	.	.	864	655	3	0	0	3	0.00228484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs537642452	0.0002	0.0001	0.0003	0.0001	0.0011	0.0002	0.0001	0.0003	0.0002	0	0.0005	0	0	0	0.0011	0.0002	0.0002	0.0010	0.0001	0.0002	0.0001	0.0002	0.0017	9.741e-05	8.255e-05	0.0008	0.0006	7.221e-05	0	0.0001	0	0	0	0	0.0001	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	708.98	118	chr14	19868573	.	C	T	708.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.15;DP=5070;ExcessHet=0.0000;FS=9.467;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.86;ReadPosRankSum=-6.350e-01;SOR=1.023	GT:AD:DP:GQ:PL	0/0:187,0:187:99:0,120,1800	20	0	1	0
chr14	19876640	19876640	G	A	exonic	OR4K2	.	nonsynonymous SNV	OR4K2:NM_001005501:exon1:c.G373A:p.A125T,	.	.	419	1098	5	0	0	5	0.00227169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	0.972	D	3.87	H	5.55	T	-1.129	T	0.026	T	0.618	4.386	23.2	5.12	2.660	6.011	16.106	0.294	0.00381403962977	0.0002	.	0.0007	0	0.0006	0	0	0.0006	0	0.0022	0.0005498	85	154602	rs199718838	0.0003	0.0004	0.0003	0.0004	0.0017	0.0003	0.0003	0.0015	0.0014	2.987e-05	0.0008	0.0051	5.038e-05	0	0.0014	0.0001	0.0006	0.0017	0.0003	0.0003	0.0002	0.0003	0.0014	0.0002	0.0002	0.0007	0.0005	4.811e-05	0	0.0002	0.0055	0	0	0	0.0002	0	0.0014	0.0	0.91255	D	0.009	0.66756	D	1.0	0.90584	D	1.0	0.97372	D	0.000152	0.49130	D	0.000000	0.971681	0.38889	D	3.915	0.96218	H	5.55	0.00874	T	-3.96	0.73579	D	0.72	0.72209	-1.1290	0.01830	T	0.026	0.11176	T	10	0.013000846	0.00277	T	0.003814	0.08899	T	0.294	0.61388	.	.	0.694030465916	0.69139	0.25058669426675756	0.24972	6.02644642598E-4	0.00059	0.398348093033	0.24838	T	0.013997	0.11998	T	-0.315633	0.07261	T	-0.232946	0.51486	T	0.162378281321249	0.18046	T	0.906609	0.67067	D	0.93937844	0.95184	0.92388666	0.96671	0.93937844	0.95185	0.92388666	0.96671	-9.306	0.69645	D	.	.	0.390	0.58988	A	.;.	.;.	4.892654	0.80347	27.3	0.99911372261861997	0.98095	0.97918	0.78116	D	AEFGI	0.556003	0.56621	D	0.955400145024306	0.94196	12.57404	0.859443093134322	0.93554	12.12126	0.999992226678659	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.12	5.12	0.69459	7.924000	0.86974	9.222000	0.79302	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:1.0:0.0	16.106	0.81029	988	0.01987	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	744.98	71	chr14	19876640	.	G	A	744.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.508e+00;DP=1395;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.62;ReadPosRankSum=0.221;SOR=0.652	GT:AD:DP:GQ:PL	0/0:64,0:64:99:0,117,1800	20	0	1	0
chr14	19920836	19920836	C	T	exonic	OR4K5	.	nonsynonymous SNV	OR4K5:NM_001005483:exon1:c.C230T:p.A77V,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.862	P	0.607	P	0.005	N	1.000	N	0.26	N	6.31	T	-0.634	T	0.002	T	0.525	2.905	15.68	4.31	2.212	0.780	14.294	0.145	0.00373484088918	0.0010	0.000798722	0.0003	0.0037	0	0	0	0	0	0	0.000304	47	154602	rs142645609	8.619e-05	9.235e-05	0.0001	7.013e-05	0.0027	7.353e-05	6.903e-05	0.0023	0.0021	0.0027	0.0002	0	0	0	0.0002	0	0.0003	5.797e-05	0.0006	0.0007	0.0007	0.0006	0.0022	0.0005	0.0005	0.0018	0.0017	0.0022	0	0.0003	0	0	0	0	1.47e-05	0	0.0002	0.045	0.40832	D	0.086	0.40909	T	0.862	0.47435	P	0.607	0.51000	P	0.004931	0.33255	N	0.134462	1	0.08975	N	-0.02	0.05091	N	6.31	0.00555	T	-2.55	0.55181	D	0.071	0.04426	-0.6336	0.63418	T	0.002	0.00556	T	10	0.0073951483	0.00168	T	0.003735	0.08651	T	0.145	0.38592	.	.	0.388812400583	0.38497	0.031349636016411	0.03083	0.00371297511254	0.00321	0.364659547806	0.20061	T	0.008138	0.07488	T	-0.508545	0.00512	T	-0.506003	0.21725	T	0.0744129480451103	0.09257	T	0.818818	0.47619	T	0.17985013	0.39077	0.22440766	0.47352	0.17985013	0.39076	0.22440766	0.47351	-1.84	0.02631	T	.	.	0.188	0.40554	B	.	.	3.315340	0.45575	22.2	0.9976136658435818	0.85091	0.02637	0.07234	N	AEFBI	0.046996	0.07866	N	0.00078590623731524	0.41890	2.513909	0.0100000769693624	0.40179	2.393713	0.990219411251025	0.32077	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.31	4.31	0.50718	-0.076000	0.11374	-0.251000	0.10506	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.0:1.0:0.0:0.0	14.294	0.65851	988	0.01987	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2761.98	44	chr14	19920836	.	C	T	2761.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.400e-01;DP=1138;ExcessHet=0.0000;FS=2.719;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.70;ReadPosRankSum=-1.348e+00;SOR=0.942	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr14	19936181	19936181	A	G	exonic	OR4K1	.	nonsynonymous SNV	OR4K1:NM_001004063:exon1:c.A515G:p.N172S,	.	.	425	1070	27	0	0	27	0.0124596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.855	P	0.732	P	0.000	D	0.941	N	3.095	M	8.46	T	-1.085	T	0.001	T	0.243	3.197	16.70	4.82	2.011	1.949	12.356	0.132	.	0.0047	0.00239617	0.0070	0.0012	0.0011	0	0.0035	0.0108	0.0022	0.0045	0.0064423	996	154602	rs75008557	0.0057	0.0066	0.0056	0.0058	0.0174	0.0056	0.0056	0.0146	0.0136	0.0012	0.0020	0.0028	0	0.0039	0.0174	0.0065	0.0052	0.0040	0.0042	0.0048	0.0046	0.0038	0.0074	0.0039	0.0038	0.0069	0.0066	0.0009	0	0.0022	0.0040	0	0.0022	0.0069	0.0074	0.0043	0.0033	0.011	0.55530	D	0.007	0.69154	D	0.855	0.47121	P	0.732	0.55359	P	0.000011	0.62929	D	0.000000	0.941435	0.26780	N	3.055	0.86842	M	8.46	0.00221	T	-4.51	0.78222	D	0.409	0.44952	-1.0848	0.06444	T	0.001	0.00408	T	10	0.0052506328	0.00115	T	.	.	.	0.132	0.35948	.	.	0.474406357249	0.47070	0.07902901978355073	0.07837	0.00178415615282	0.00149	0.306223571301	0.11336	T	0.008142	0.07488	T	-0.517954	0.00452	T	-0.510667	0.21246	T	0.0786080914613422	0.09809	T	0.727127	0.34152	T	0.43628764	0.63163	0.3765644	0.62776	0.43628764	0.63163	0.3765644	0.62775	-7.854	0.60071	D	.	.	0.097	0.15698	B	.;.;.	.;.;.	3.947384	0.57808	23.9	0.99859078782074873	0.93729	0.52817	0.29222	D	AEFGI	0.141908	0.26421	N	0.424060787507789	0.62749	4.495927	0.344640799658663	0.58186	3.987643	0.915194676705139	0.26476	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.82	4.82	0.61641	1.407000	0.34266	3.704000	0.39535	0.756000	0.94297	0.001000	0.13787	0.998000	0.33993	0.998000	0.85391	1.0:0.0:0.0:0.0	12.356	0.54503	988	0.01987	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2256.98	103	chr14	19936181	.	A	G	2256.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.885e+00;DP=2976;ExcessHet=0.0000;FS=6.386;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.52;ReadPosRankSum=0.252;SOR=0.976	GT:AD:DP:GQ:PL	0/0:121,0:121:99:0,120,1800	20	0	1	0
chr14	20372843	20372843	A	C	exonic	TEP1	.	nonsynonymous SNV	TEP1:NM_001319035:exon47:c.T6642G:p.I2214M	.	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.95	P	0.63	P	0.002	N	1.000	D	2.7	M	1.91	T	-1.065	T	0.044	T	0.163	1.419	10.68	4.08	0.823	2.986	9.137	0.171	.	0.0048	0.00459265	0.0014	0.0147	0.0004	0	0	0.0001	0	0	0.0013519	209	154602	rs34811735	0.0005	0.0005	0.0005	0.0005	0.0160	0.0005	0.0005	0.0149	0.0144	0.0160	0.0008	0	0	0	0.0033	4.676e-05	0.0013	4.638e-05	0.0045	0.0045	0.0045	0.0045	0.0149	0.0042	0.0041	0.0139	0.0135	0.0149	0	0.0032	0	0	0	0	0.0001	0.0038	0.0002	0.013	0.54683	D	0.01	0.65728	D	0.917	0.53885	P	0.426	0.51761	B	0.002365	0.36688	N	0.253292	0.999991	0.58761	D	2.25	0.63811	M	1.91	0.23283	T	-1.23	0.31170	N	0.484	0.51851	-1.0650	0.10549	T	0.044	0.18865	T	10	0.00884971	0.00200	T	.	.	.	0.171	0.43483	.	.	0.413891365518	0.41003	0.17959836116978106	0.17878	0.353559346183	0.37155	0.35633072257	0.18850	T	0.164302	0.50971	T	-0.533996	0.00364	T	-0.527501	0.19537	T	0.0291605978352433	0.01862	T	0.759724	0.38410	T	0.08757332	0.20399	0.09744952	0.23196	0.08757332	0.20398	0.09744952	0.23195	-6.969	0.53807	T	.	.	0.180	0.42592	B	.;.	.;.	2.909191	0.38583	20.8	0.98310036128819522	0.40135	0.68037	0.33652	D	AEFBI	0.162540	0.28873	N	-0.0825601580338298	0.38156	2.230562	-0.157122830920498	0.33136	1.892295	0.573021731403523	0.21508	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.91	4.08	0.46880	3.050000	0.49568	3.989000	0.40972	-0.562000	0.04833	0.996000	0.39380	1.000000	0.68203	0.100000	0.18284	0.1529:0.0:0.8471:0.0	9.137	0.36045	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	5006.11	34	chr14	20372843	.	A	C	5006.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.81;DP=1062;ExcessHet=0.1072;FS=1.202;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=1.36;SOR=0.620	GT:AD:DP:GQ:PL	0/1:96,100:196:99:2420,0,2304	19	0	2	0
chr14	20429871	20429871	G	C	exonic	KLHL33	.	nonsynonymous SNV	KLHL33:NM_001109997:exon2:c.C805G:p.L269V	.	.	421	1073	26	2	0	30	0.0137868	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.13	B	0.037	B	0.067	N	1.000	N	1.57	L	-0.21	T	-0.888	T	0.199	T	0.129	-0.395	2.147	1.81	0.181	0.166	9.013	0.027	0.0157598847765	0.0026	0.00119808	0.0032	0	0.0025	0	0	0.0023	0.0042	0.0063	0.0007891	122	154602	rs192048256	0.0023	0.0022	0.0021	0.0025	0.0079	0.0022	0.0022	0.0061	0.0054	0.0003	0.0017	0.0019	0	0.0004	0.0079	0.0022	0.0029	0.0054	0.0017	0.0017	0.0015	0.0018	0.0052	0.0015	0.0014	0.0036	0.0031	0.0004	0	0.0020	0.0017	0	0	0.0102	0.0024	0.0043	0.0052	0.208	0.19782	T	0.628	0.07244	T	0.13	0.27095	B	0.037	0.23121	B	0.067181	0.21758	N	0.441570	1	0.08975	N	1.73	0.44655	L	-0.21	0.66294	T	0.15	0.05310	N	0.094	0.07398	-0.8880	0.49105	T	0.199	0.55442	T	10	0.0037027597	0.00068	T	0.01576	0.36670	T	0.027	0.05988	.	.	0.0297737177859	0.01360	0.2933002980905662	0.29243	.	.	0.444276481867	0.31161	T	0.003719	0.03130	T	-0.509382	0.00506	T	-0.502273	0.22112	T	0.0328855422385679	0.02452	T	0.584642	0.21276	T	0.04973287	0.08875	0.060564112	0.11552	0.04973287	0.08875	0.060564112	0.11552	-3.989	0.23639	T	.	.	0.079	0.11893	B	.;.;.	.;.;.	0.492016	0.08614	5.381	0.91765511113169151	0.21067	0.05115	0.10919	N	AEFDGBI	0.087045	0.17650	N	-0.813255969199981	0.12972	0.6358392	-0.831481232801145	0.13733	0.7140395	0.999990607814314	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.631631	0.49550	0	.	.	4.81	1.81	0.24139	0.383000	0.20381	3.139000	0.36475	-0.153000	0.12021	0.057000	0.21666	1.000000	0.68203	0.845000	0.39915	0.0:0.3037:0.5393:0.157	9.013	0.35312	946	0.12043	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1794.98	38	chr14	20429871	.	G	C	1794.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.040e+00;DP=1698;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.88;ReadPosRankSum=-2.053e+00;SOR=0.680	GT:AD:DP:GQ:PL	0/0:170,0:170:99:0,120,1800	20	0	1	0
chr14	20435525	20435525	G	-	exonic	KLHL33	.	frameshift deletion	KLHL33:NM_001365790:exon2:c.287delC:p.P96Rfs*34,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	149.4	10	chr14	20435524	.	CG	C	149.4	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.030e-01;DP=205;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0493;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.67;ReadPosRankSum=1.29;SOR=0.582	GT:AD:DP:GQ:PL	0/0:4,0:4:12:0,12,123	20	0	1	0
chr14	20435531	20435531	T	G	exonic	KLHL33	.	nonsynonymous SNV	KLHL33:NM_001365790:exon2:c.A281C:p.E94A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.772e-06	2.052e-06	0	5.869e-06	0.0001	7.4e-07	2.1e-07	1.788e-05	7.31e-06	0	0	0	0	0	0	0	2.279e-05	0.0001	1.313e-05	1.312e-05	0	2.686e-05	0.0004	2.18e-06	8.2e-07	7.287e-05	3.028e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17820111	0.32893	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021227	0.16569	T	.	.	.	.	.	.	.	.	.	0.663934	0.27277	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.18869	B	.;.	.;.	2.685570	0.35042	19.79	0.92660494599411525	0.22140	0.62483	0.31795	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999810401717182	0.43459	0.166803	0.03914	0	0.060609	0.00678	0	0.182457	0.04408	0	0.075334	0.01956	0	0.417428	0.37994	4.86	3.69	0.41483	0.879000	0.27783	2.761000	0.34604	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0919:0.1825:0.7256	5.217	0.14668	946	0.12043	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	60.31	10	chr14	20435531	.	T	G	60.31	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.00;DP=210;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0446;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.05;ReadPosRankSum=-1.960e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/0:5,0:5:15:0,15,146	20	0	1	0
chr14	20458571	20458571	C	G	exonic	PIP4P1	.	nonsynonymous SNV	PIP4P1:NM_001100814:exon7:c.G843C:p.Q281H	.	.	.	.	.	.	.	.	.	.	.	3368802	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.011	B	0.005	B	0.000	D	0.980	D	-0.55	N	.	.	-1.014	T	0.054	T	0.274	-1.013	0.241	5.0	2.600	1.298	10.754	0.072	0.00232770779607	0.0003	.	0.0003	0	0	0	0	0.0005	0	0	0.0002329	36	154602	rs202232774	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0001	0.0001	2.987e-05	4.476e-05	0.0041	0	0	0.0005	0.0001	0.0005	0	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	8.878e-05	0	0	0	0.0029	0	0	0	0.0002	0.0019	0	1.0	0.02234	T	0.704	0.05642	T	0.006	0.15914	B	0.002	0.11217	B	0.000009	0.62929	D	0.066743	0.980435	0.39666	D	.	.	.	.	.	.	0.54	0.02764	N	0.18	0.19459	-1.0142	0.25593	T	0.054	0.22731	T	9	0.0061178207	0.00138	T	0.002328	0.04507	T	0.072	0.21020	0.261	0.20473	0.043077524339	0.03247	0.5811444572426319	0.58043	0.544487186864	0.51500	0.657041370869	0.60986	T	0.034155	0.23210	T	-0.306746	0.08038	T	-0.380836	0.35624	T	0.0209023107525429	0.00791	T	0.706929	0.31753	T	0.106727436	0.25235	0.09240682	0.21777	0.106727436	0.25235	0.09240682	0.21776	-1.192	0.01470	T	.	.	0.211	0.43909	B	.;.	.;.	2.965697	0.39511	21.0	0.83371416973034751	0.14689	0.74506	0.36449	D	AEFBCI	0.149521	0.27363	N	-0.464872144661371	0.23239	1.24652	-0.194306873094045	0.31745	1.799448	0.999999921221322	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	5.0	5.0	0.66209	1.756000	0.38018	7.670000	0.64725	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9118:0.0:0.0882	10.754	0.45425	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1015.98	33	chr14	20458571	.	C	G	1015.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.37;DP=801;ExcessHet=0.0000;FS=0.791;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-1.783e+00;SOR=0.814	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1371	20	0	1	0
chr14	20556658	20556658	C	T	exonic	RNASE9	.	nonsynonymous SNV	RNASE9:NM_001001673:exon2:c.G412A:p.E138K	.	.	439	1077	6	0	0	6	0.00277778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.817	P	0.555	P	.	.	1.000	N	1.39	L	1.05	T	-1.068	T	0.077	T	0.132	2.243	13.46	-7.47	-2.177	-1.676	0.767	0.076	0.00226365638764	0.0002	0.000599042	0.0007	0	0.0007	0	0	0.0005	0.0011	0.0024	0.0006404	99	154602	rs151318768	0.0004	0.0004	0.0004	0.0005	0.0106	0.0004	0.0004	0.0085	0.0077	0.0003	0.0009	0.0001	0	0	0.0106	0.0002	0.0010	0.0024	0.0005	0.0005	0.0004	0.0005	0.0018	0.0004	0.0004	0.0012	0.0011	7.213e-05	0	0.0018	0.0003	0	0	0.0068	0.0004	0.0014	0.0017	0.157	0.24468	T	0.049	0.48336	D	0.817	0.45613	P	0.555	0.49371	P	.	.	.	.	1	0.08975	N	2.005	0.54552	M	1.05	0.39990	T	-0.77	0.21429	N	0.109	0.14054	-1.0684	0.09768	T	0.077	0.30889	T	9	0.009732485	0.00219	T	0.002264	0.04314	T	0.076	0.22200	.	.	0.171388866994	0.16791	0.35025384010115873	0.34939	0.124617667741	0.14036	0.279298424721	0.07395	T	0.004526	0.03927	T	-0.611168	0.00125	T	-0.655915	0.08545	T	0.0445337345306015	0.04517	T	0.60094	0.22456	T	0.06841872	0.14904	0.05243686	0.08640	0.06841872	0.14904	0.05243686	0.08639	-3.249	0.13545	T	.	.	0.168	0.43407	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	-0.140295	0.03408	0.618	0.95839978556147964	0.27963	0.00412	0.02045	N	AEFDBI	0.034438	0.04266	N	-1.30431364748676	0.03626	0.1622773	-1.56646288661735	0.01865	0.08500237	0.999999987347841	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.73	-7.47	0.01221	-1.442000	0.02514	-14.463000	0.00402	-0.453000	0.05137	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.2213:0.1522:0.219:0.4074	0.767	0.00952	946	0.12043	Ribonuclease A-domain;Ribonuclease A-domain;Ribonuclease A-domain;Ribonuclease A-domain;.;.;Ribonuclease A-domain;Ribonuclease A-domain;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2247.98	79	chr14	20556658	.	C	T	2247.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.33;DP=1035;ExcessHet=0.0000;FS=1.988;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.14;ReadPosRankSum=-2.460e-01;SOR=0.532	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1339	20	0	1	0
chr14	20641096	20641096	T	C	exonic	OR6S1	.	nonsynonymous SNV	OR6S1:NM_001001968:exon1:c.A596G:p.E199G,	.	.	425	1074	21	2	0	25	0.0115048	.	.	2810236	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	0.749	N	2.175	M	8.41	T	-0.880	T	0.001	T	0.398	3.456	17.71	5.62	2.124	2.196	13.771	0.147	.	0.0070	0.00359425	0.0063	0.0021	0.0029	0	0.0015	0.0091	0.0066	0.0055	0.0064423	996	154602	rs45592635	0.0086	0.0086	0.0088	0.0084	0.0100	0.0085	0.0084	0.0099	0.0098	0.0014	0.0027	0.0059	2.519e-05	0.0012	0.0097	0.0100	0.0085	0.0053	0.0056	0.0056	0.0061	0.0051	0.0095	0.0053	0.0052	0.0089	0.0086	0.0019	0	0.0042	0.0055	0	0.0015	0	0.0095	0.0057	0.0042	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000131	0.49741	D	0.000000	0.748761	0.29660	N	2.375	0.68372	M	8.41	0.00237	T	-6.53	0.91741	D	0.215	0.24010	-0.8805	0.49722	T	0.001	0.00408	T	10	0.0050638914	0.00109	T	.	.	.	0.147	0.38986	.	.	0.768534457903	0.76641	0.2993247951634364	0.29845	0.0838756158963	0.09456	0.273137480021	0.06553	T	0.00707	0.06489	T	-0.426911	0.01548	T	-0.375616	0.36235	T	0.0348115046460248	0.02776	T	0.456654	0.13107	T	0.9343526	0.94674	0.95187396	0.98511	0.9343526	0.94675	0.95187396	0.98512	-7.732	0.59230	D	.	.	0.396	0.59330	A	.	.	4.142514	0.62078	24.4	0.99908274315125167	0.97801	0.27992	0.23431	N	AEFBI	0.104860	0.20969	N	0.465654513934641	0.65096	4.779765	0.394452908253012	0.61221	4.319332	0.601825386677652	0.21732	0.421363	0.06395	0	0.550933	0.16991	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.62	5.62	0.85714	0.933000	0.28497	4.530000	0.43722	0.645000	0.52629	0.000000	0.06391	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	13.771	0.62511	940	0.13648	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1314.98	77	chr14	20641096	.	T	C	1314.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.384e+00;DP=1970;ExcessHet=0.0000;FS=3.450;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=-4.330e-01;SOR=1.091	GT:AD:DP:GQ:PL	0/0:98,0:98:99:0,120,1800	20	0	1	0
chr14	20641346	20641346	G	T	exonic	OR6S1	.	nonsynonymous SNV	OR6S1:NM_001001968:exon1:c.C346A:p.L116M,	.	.	425	1022	71	4	0	79	0.0372115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.99	D	0.895	P	0.002	N	1.000	N	2.12	M	2.6	T	-1.089	T	0.059	T	0.339	2.468	14.21	4.32	1.329	0.858	11.814	0.106	.	0.0070	0.00678914	0.0100	0.0009	0.0073	0.0002	0.0142	0.0092	0.0132	0.0239	0.0095924	1483	154602	rs72659934	0.0096	0.0096	0.0091	0.0102	0.0251	0.0095	0.0094	0.0242	0.0238	0.0011	0.0058	0.0066	0.0001	0.0151	0.0186	0.0090	0.0093	0.0251	0.0073	0.0073	0.0067	0.0080	0.0243	0.0069	0.0068	0.0207	0.0193	0.0013	0.0164	0.0080	0.0049	0.0008	0.0157	0.0068	0.0087	0.0100	0.0243	0.002	0.72154	D	0.005	0.72224	D	0.99	0.63424	D	0.895	0.63489	P	0.002465	0.36499	N	0.000000	0.999994	0.08975	N	3.03	0.86425	M	2.6	0.13204	T	-1.75	0.41428	N	0.245	0.27673	-1.0891	0.05684	T	0.059	0.24760	T	10	0.0075003207	0.00170	T	.	.	.	0.106	0.30130	.	.	.	.	0.08102884940831236	0.08037	0.0777633554608	0.08748	0.300130873919	0.10420	T	0.007311	0.06724	T	-0.483694	0.00704	T	-0.449316	0.27773	T	0.0483692759940438	0.05211	T	0.938006	0.76748	D	0.50906944	0.67625	0.53427285	0.73088	0.50906944	0.67626	0.53427285	0.73089	-8.335	0.63331	D	.	.	0.279	0.51236	B	.	.	2.848611	0.37605	20.5	0.99636242048711365	0.76387	0.22463	0.21755	N	AEFBI	0.095467	0.19287	N	0.367726829928538	0.59681	4.14961	0.291694043039854	0.55051	3.668843	0.146601963832402	0.17369	0.59774	0.34471	0	0.550933	0.16991	0	0.547309	0.15389	0	0.63947	0.58350	0	.	.	5.22	4.32	0.50899	0.678000	0.24956	1.260000	0.25225	0.656000	0.54149	0.239000	0.24738	0.767000	0.26670	0.950000	0.49671	0.0864:0.0:0.9136:0.0	11.814	0.51473	940	0.13648	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1829.98	80	chr14	20641346	.	G	T	1829.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.789e+00;DP=1786;ExcessHet=0.0000;FS=2.081;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=-8.050e-01;SOR=0.898	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,120,1800	20	0	1	0
chr14	20747837	20747837	G	A	exonic	EDDM3A	.	nonsynonymous SNV	EDDM3A:NM_006683:exon2:c.G257A:p.S86N,	.	.	.	.	.	.	.	.	.	.	.	2714571	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.47	T	0.001	B	0.001	B	0.423	N	1.000	N	1.1	L	0.94	T	-1.051	T	0.073	T	0.014	1.757	11.83	-1.21	-0.365	-0.497	5.105	0.054	0.00245575216734	.	.	8.243e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs532594291	1.984e-05	2.052e-05	2.45e-05	1.513e-05	2.608e-05	1.392e-05	1.203e-05	1.83e-05	1.582e-05	0	0	0	0	0	0	2.608e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.12961	T	0.522	0.10391	T	0.001	0.07471	B	0.001	0.04355	B	0.423104	0.04660	N	1.378240	1	0.08975	N	0.405	0.12330	N	0.94	0.43672	T	1.0	0.01408	N	0.028	0.00618	-1.0510	0.14119	T	0.073	0.29675	T	10	0.028373152	0.00970	T	0.002456	0.04840	T	0.054	0.15330	0.147	0.05039	0.194818534648	0.19098	0.10616492581970637	0.10546	0.036009807883	0.03802	0.300982058048	0.10548	T	0.001993	0.01403	T	-0.476151	0.00779	T	-0.814078	0.01576	T	0.0474835187196732	0.05051	T	0.264674	0.04299	T	0.030141084	0.02626	0.05337572	0.08979	0.030141084	0.02625	0.05337572	0.08978	-3.531	0.16869	T	.	.	0.065	0.01834	B	.	.	0.351038	0.07241	3.840	0.94416396250383516	0.24819	0.00498	0.02351	N	AEFBI	0.018529	0.00569	N	-1.17509415503401	0.05378	0.2450481	-1.26639008852798	0.04893	0.2318861	0.697169479521736	0.22654	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	1.9	-1.21	0.09033	-0.479000	0.06647	1.884000	0.29472	0.373000	0.20310	0.010000	0.18352	0.941000	0.28781	0.823000	0.38780	0.487:0.0:0.513:0.0	5.105	0.14111	779	0.47767	Ribonuclease A-domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1111	147.34	118	chr14	20747837	.	G	A	147.34	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-3.194e+00;DP=1717;ExcessHet=0.6776;FS=228.147;InbreedingCoeff=-0.1516;MLEAC=4;MLEAF=0.111;MQ=60.00;MQRankSum=0.00;QD=0.38;ReadPosRankSum=-1.130e-01;SOR=10.330	GT:AD:DP:GQ:PL	0/0:60,13:81:44:0,44,1792	14	0	4	3
chr14	20781964	20781964	C	T	exonic	RNASE6	.	nonsynonymous SNV	RNASE6:NM_005615:exon2:c.C265T:p.R89W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.007	B	0.006	B	0.108	N	1.000	N	0.895	L	-0.79	T	-0.970	T	0.215	T	0.12	1.200	9.876	-2.87	-0.695	-1.506	0.827	0.107	0.0257866291064	.	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs143479557	1.505e-05	1.505e-05	1.77e-05	1.238e-05	1.978e-05	9.85e-06	8.41e-06	1.295e-05	1.106e-05	0	0	0	0	0	0	1.978e-05	0	0	1.972e-05	1.97e-05	1.285e-05	2.69e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.143	0.25355	T	0.01	0.65728	D	0.007	0.14184	B	0.006	0.12133	B	0.107763	0.02609	N	1.849040	1	0.08975	N	2.92	0.84325	M	-0.79	0.73739	T	-4.08	0.74742	D	0.088	0.06587	-0.9702	0.37157	T	0.215	0.57626	T	10	0.099426925	0.18042	T	0.025787	0.48740	D	0.107	0.30369	0.481	0.56142	0.558227216974	0.55483	0.3618878441233474	0.36102	0.0843459480316	0.09530	0.207278490067	0.00701	T	0.095159	0.39563	T	-0.187184	0.22672	T	-0.491167	0.23268	T	0.11430280490232	0.13864	T	0.00743259	0.00033	T	0.16960628	0.37486	0.1811306	0.40956	0.16960628	0.37486	0.1811306	0.40955	-5.046	0.37336	T	.	.	0.097	0.15743	B	.	.	0.080291	0.04866	1.456	0.61595722779484108	0.06748	0.03125	0.08072	N	AEFDGBCI	0.128884	0.24684	N	-1.54611813575727	0.01557	0.06803222	-1.59339061635382	0.01695	0.07701912	0.999995496079746	0.74766	0.615755	0.39536	0	0.52208	0.09955	0	0.618376	0.41669	0	0.650387	0.60102	1	.	.	5.06	-2.87	0.05359	-1.406000	0.02596	-6.597000	0.01355	-2.710000	0.00207	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3745:0.2793:0.1221:0.224	0.827	0.01052	570	0.70478	Ribonuclease A-domain|Ribonuclease A-domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2811.98	33	chr14	20781964	.	C	T	2811.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.31;DP=894;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.06;ReadPosRankSum=-1.147e+00;SOR=0.722	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr14	20801690	20801690	T	C	exonic	RNASE1	.	nonsynonymous SNV	RNASE1:NM_002933:exon2:c.A379G:p.T127A	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.001	B	0.007	B	0.203	N	1.000	N	1.8	L	-0.72	T	-0.930	T	0.229	T	0.111	1.376	10.53	2.71	0.979	-0.450	6.960	0.104	.	.	0.00199681	0.0012	0	0	0.0001	0	0	0.0011	0.0087	0.0010414	161	154602	rs555113365	0.0005	0.0005	0.0003	0.0007	0.0080	0.0005	0.0005	0.0075	0.0074	0	0	0	0	0	0.0002	1.799e-06	0.0005	0.0080	0.0003	0.0003	0.0002	0.0004	0.0095	0.0002	0.0002	0.0074	0.0066	0	0	0	0	0	0	0	0	0	0.0095	0.276	0.17296	T	0.316	0.19362	T	0.001	0.07471	B	0.007	0.12992	B	0.203133	0.16550	N	0.620707	1	0.08975	N	1.565	0.39561	L	-0.72	0.72994	T	-3.62	0.69593	D	0.063	0.11912	-0.9304	0.44080	T	0.229	0.59484	T	10	0.005356282	0.00117	T	.	.	.	0.104	0.29647	0.606	0.73825	0.650691954393	0.64779	0.4578217451409525	0.45700	0.192883983808	0.21620	0.375300347805	0.21589	T	0.315351	0.68696	T	-0.511404	0.00493	T	-0.501823	0.22159	T	0.031088109800568	0.02161	T	0.557244	0.19380	T	0.10130437	0.23928	0.12321319	0.29714	0.10130437	0.23927	0.12321319	0.29713	-4.122	0.25614	T	.	.	0.138	0.30945	B	.;.;.;.;.	.;.;.;.;.	1.113776	0.14988	11.50	0.91944561474787423	0.21271	0.04934	0.10691	N	AEFBHCI	0.371582	0.45754	N	-0.751016223444136	0.14605	0.7289628	-0.685817306912872	0.17316	0.920158	0.999999996915684	0.74766	0.743674	0.98306	0	0.491513	0.07743	0	0.630245	0.45026	0	0.657601	0.63696	0	.	.	5.15	2.71	0.31092	-0.241000	0.08958	-1.255000	0.05895	-0.727000	0.03751	0.000000	0.06391	0.000000	0.08366	0.936000	0.47498	0.0:0.186:0.0:0.814	6.960	0.23771	573	0.70213	Ribonuclease A-domain|Ribonuclease A-domain;Ribonuclease A-domain|Ribonuclease A-domain;Ribonuclease A-domain|Ribonuclease A-domain;Ribonuclease A-domain|Ribonuclease A-domain;Ribonuclease A-domain|Ribonuclease A-domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1701.98	34	chr14	20801690	.	T	C	1701.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.004e+00;DP=855;ExcessHet=0.0000;FS=1.243;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.64;ReadPosRankSum=-1.263e+00;SOR=0.578	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1229	20	0	1	0
chr14	20956082	20956082	A	C	exonic	RNASE2	.	nonsynonymous SNV	RNASE2:NM_002934:exon2:c.A311C:p.Q104P,	.	.	426	1081	13	2	0	17	0.00780174	.	.	702799	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.61	T	0.016	B	0.021	B	0.346	N	1.000	N	0.73	N	-0.66	T	-0.992	T	0.136	T	0.216	-1.736	0.011	-6.03	-2.593	-7.342	7.785	0.079	.	0.0002	0.00159744	0.0012	9.61e-05	0.0018	0	0	0.0007	0.0055	0.0048	0.0010996	170	154602	rs142822260	0.0006	0.0006	0.0005	0.0008	0.0073	0.0006	0.0006	0.0055	0.0049	0.0004	0.0017	0.0036	0	0	0.0073	0.0002	0.0010	0.0055	0.0006	0.0006	0.0005	0.0006	0.0064	0.0005	0.0004	0.0046	0.0040	0.0002	0	0.0012	0.0020	0	0	0.0102	0.0003	0.0014	0.0064	0.605	0.05551	T	0.626	0.07292	T	0.016	0.17332	B	0.021	0.19346	B	0.346455	0.13883	N	0.520969	1	0.08975	N	0.555	0.15161	N	-0.66	0.72348	T	0.64	0.02368	N	0.096	0.07673	-0.9919	0.32115	T	0.136	0.45222	T	10	0.007411629	0.00169	T	.	.	.	0.079	0.23065	.	.	0.311387274539	0.30754	0.8427638846248411	0.84237	0.486651211753	0.47520	0.222315192223	0.01448	T	0.00551	0.04962	T	-0.528151	0.00394	T	-0.530338	0.19253	T	0.0109957543687198	0.00158	T	0.383462	0.09368	T	0.23859242	0.46739	0.16625525	0.38419	0.23859242	0.46739	0.16625525	0.38418	-3.098	0.11273	T	.	.	0.082	0.08705	B	.	.	-2.508378	0.00031	0.001	0.10404310038132746	0.00130	0.00145	0.00883	N	AEFGBI	0.042618	0.06635	N	-1.90832286689494	0.00330	0.01417874	-2.04168157269928	0.00249	0.01100217	0.99999939991988	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.02	-6.03	0.02001	-7.002000	0.00059	-20.000000	0.00162	-1.011000	0.01765	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1883:0.5182:0.2935:0.0	7.785	0.28251	923	0.18507	Ribonuclease A-domain|Ribonuclease A-domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1708.98	33	chr14	20956082	.	A	C	1708.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.029e+00;DP=822;ExcessHet=0.0000;FS=2.119;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.12;ReadPosRankSum=0.070;SOR=0.858	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1185	20	0	1	0
chr14	20990022	20990022	G	A	exonic	METTL17	.	nonsynonymous SNV	METTL17:NM_001029991:exon1:c.G20A:p.C7Y	.	.	433	1085	3	1	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.021	N	1.000	N	-1.39	N	1.6	T	-1.057	T	0.015	T	0.072	-1.148	0.104	-11.1	-2.944	-2.245	4.141	0.028	0.00121846973156	0.0023	0.000599042	0.0014	0.0005	0.0012	0	0.0002	0.0022	0	0.0001	0.0014877	230	154602	rs140652112	0.0022	0.0022	0.0023	0.0021	0.0026	0.0021	0.0021	0.0025	0.0025	0.0003	0.0016	0.0009	0	0.0002	0.0016	0.0026	0.0021	5.807e-05	0.0015	0.0015	0.0018	0.0012	0.0024	0.0014	0.0013	0.0021	0.0020	0.0005	0	0.0024	0.0009	0	0.0002	0	0.0024	0.0024	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.020565	0.01535	N	2.132320	1	0.08975	N	-1.61	0.00416	N	1.6	0.29602	T	-0.72	0.20358	N	0.054	0.21319	-1.0569	0.12543	T	0.015	0.05849	T	10	0.0042485297	0.00085	T	0.001218	0.01608	T	0.028	0.06331	.	.	0.0762999501168	0.06990	0.4358616548657623	0.43503	0.482400438877	0.47204	0.425316393375	0.28569	T	0.00391	0.03323	T	-0.693151	0.00040	T	-0.770229	0.02761	T	0.0103324027836682	0.00141	T	0.321068	0.06505	T	0.04561098	0.07495	0.09765748	0.23253	0.04561098	0.07494	0.09765748	0.23252	-5.725	0.43915	T	.	.	0.055	0.01059	B	.;.;.	.;.;.	-2.319716	0.00048	0.001	0.77586023011685912	0.11938	0.06896	0.12921	N	ALL	0.031481	0.03376	N	-2.48130269060062	0.00018	0.0007615231	-2.48924965746019	0.00024	0.001082294	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	5.55	-11.1	0.00116	-2.238000	0.01282	-5.486000	0.01701	-1.823000	0.00598	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1079:0.1583:0.4208:0.313	4.141	0.09659	923	0.18507	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	376.98	34	chr14	20990022	.	G	A	376.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.126e+00;DP=782;ExcessHet=0.0000;FS=3.115;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.98;ReadPosRankSum=-2.490e-01;SOR=0.259	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1068	20	0	1	0
chr14	20992611	20992611	G	T	exonic	METTL17	.	nonsynonymous SNV	METTL17:NM_001029991:exon5:c.G517T:p.A173S	.	.	428	1088	5	1	0	7	0.0032066	.	.	2810239	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.23	T	0.998	D	0.975	D	0.001	D	0.991	D	1.265	L	1.58	T	-1.081	T	0.100	T	0.343	4.489	24.1	5.86	2.777	5.923	15.680	0.196	.	0.0087	0.00259585	0.0068	0.0013	0.0015	0	0.0060	0.0106	0.0044	0.0025	0.0068304	1056	154602	rs72661115	0.0087	0.0087	0.0088	0.0085	0.0095	0.0085	0.0085	0.0093	0.0092	0.0011	0.0027	0.0324	2.519e-05	0.0043	0.0082	0.0095	0.0093	0.0034	0.0061	0.0061	0.0061	0.0062	0.0087	0.0058	0.0057	0.0081	0.0079	0.0018	0	0.0060	0.0277	0	0.0049	0	0.0087	0.0080	0.0023	0.059	0.46513	T	0.0	0.92824	D	0.997	0.73220	D	0.975	0.73362	D	0.000525	0.43581	D	0.196755	0.990717	0.41220	D	2.505	0.72935	M	1.58	0.29085	T	-1.67	0.43717	N	0.667	0.71321	-1.0814	0.07079	T	0.100	0.37265	T	10	0.0094872415	0.00214	T	.	.	.	0.196	0.47777	.	.	0.494974121195	0.49132	0.6553535461088523	0.65471	0.930430797109	0.71797	0.510615229607	0.40309	T	0.012617	0.34994	T	-0.434261	0.01398	T	-0.382936	0.35379	T	0.0229749622754267	0.01020	T	0.858914	0.54988	D	0.22828962	0.45546	0.25883728	0.51623	0.22828962	0.45546	0.25883728	0.51622	-8.683	0.65635	D	.	.	0.162	0.45690	B	.;.;.;.;.;.	.;.;.;.;.;.	4.711405	0.75686	26.4	0.99680613760629033	0.79241	0.96914	0.71630	D	AEFBI	0.701492	0.65816	D	0.673512226001316	0.77896	6.764082	0.709554150904392	0.83103	7.93506	0.999999915336645	0.74766	0.706548	0.73137	0	0.662677	0.63036	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	5.86	0.93936	5.490000	0.66601	9.916000	0.82466	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	15.680	0.77120	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1375.98	107	chr14	20992611	.	G	T	1375.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.93;DP=833;ExcessHet=0.0000;FS=7.780;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.86;ReadPosRankSum=0.879;SOR=1.429	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1256	20	0	1	0
chr14	20996845	20996845	G	A	exonic	METTL17	.	nonsynonymous SNV	METTL17:NM_001029991:exon13:c.G1399A:p.V467I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	.	.	1.000	N	.	.	1.42	T	-0.963	T	0.044	T	0.237	2.068	12.87	-10.7	-2.365	-5.220	9.819	0.038	0.00316250421718	.	.	4.121e-05	0	8.642e-05	0	0	2.999e-05	0	0.0001	3.23e-05	5	154602	rs764960788	2.395e-05	2.463e-05	1.906e-05	2.889e-05	0.0003	1.739e-05	1.539e-05	0.0001	0.0001	2.987e-05	4.472e-05	3.826e-05	2.519e-05	1.887e-05	0.0003	8.094e-06	1.656e-05	0.0002	3.94e-05	3.937e-05	3.855e-05	4.029e-05	0.0001	1.715e-05	1.129e-05	4.729e-05	3.047e-05	0.0001	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.18198	N	.	.	.	1.42	0.33189	T	-0.02	0.07299	N	0.149	0.15187	-0.9626	0.38684	T	0.044	0.19070	T	8	0.050803006	0.04867	T	0.003163	0.06906	T	0.038	0.09825	0.189	0.09907	0.192905019026	0.18896	0.18038516922384218	0.17957	0.232246749357	0.25770	.	.	.	.	.	.	-0.366541	0.03773	T	-0.582759	0.14299	T	0.0294773213160726	0.01909	T	0.205379	0.02414	T	.	.	.	.	.	.	.	.	-3.988	0.23624	T	.	.	0.096	0.15475	B	.	.	-0.630866	0.01489	0.093	0.84793988236110418	0.15501	0.00159	0.00951	N	AEFGBI	0.030064	0.02955	N	-1.86430300043426	0.00406	0.01746224	-2.02444845258786	0.00272	0.01199129	0.999999998802778	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.37	-10.7	0.00191	-5.320000	0.00156	-7.745000	0.01094	-2.648000	0.00223	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.7282:0.0859:0.0996:0.0863	9.819	0.40040	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1813.98	34	chr14	20996845	.	G	A	1813.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=914;ExcessHet=0.0000;FS=3.371;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.30;ReadPosRankSum=-9.500e-02;SOR=0.961	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1301	20	0	1	0
chr14	21022423	21022423	C	A	exonic	NDRG2	.	nonsynonymous SNV	NDRG2:NM_001282216:exon3:c.G29T:p.R10L,	.	.	413	1096	12	1	0	14	0.00634633	.	.	739160	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.00559105	0.0020	0	0.0003	0	0	0.0004	0.0011	0.0125	0.0018628	288	154602	rs138902025	0.0012	0.0012	0.0009	0.0016	0.0128	0.0012	0.0011	0.0122	0.0119	0.0001	0.0003	0.0015	0	0.0001	0.0035	0.0005	0.0011	0.0128	0.0008	0.0008	0.0005	0.0010	0.0131	0.0007	0.0006	0.0105	0.0096	2.412e-05	0	0.0012	0.0009	0	9.448e-05	0.0034	0.0005	0	0.0131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1086.98	40	chr14	21022423	.	C	A	1086.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.613e+00;DP=873;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=-3.020e-01;SOR=0.721	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	20	0	1	0
chr14	21031160	21031160	G	A	exonic	TPPP2	.	nonsynonymous SNV	TPPP2:NM_173846:exon3:c.G322A:p.A108T,	.	.	431	1077	14	0	0	14	0.00645756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.004	B	0.001	B	0.444	N	1.000	N	-0.55	N	1.11	T	-1.002	T	0.026	T	0.184	0.001	4.019	0.548	0.028	1.138	8.225	0.032	0.00560486578843	0.0046	0.00159744	0.0039	0.0006	0.0010	0	0.0012	0.0063	0.0034	0.0017	0.0039003	603	154602	rs112271660	0.0041	0.0041	0.0041	0.0041	0.0061	0.0040	0.0040	0.0046	0.0046	0.0009	0.0011	0.0052	0	0.0027	0.0061	0.0047	0.0033	0.0016	0.0028	0.0028	0.0030	0.0027	0.0047	0.0026	0.0025	0.0043	0.0041	0.0006	0	0.0020	0.0063	0.0002	0.0020	0	0.0047	0.0009	0.0021	0.361	0.25055	T	0.621	0.16865	T	0.004	0.12183	B	0.001	0.04355	B	0.443918	0.12592	N	0.754623	1	0.08975	N	0.05	0.08135	N	0.97	0.42502	T	0.15	0.13035	N	0.172	0.18376	-1.0016	0.29459	T	0.026	0.11309	T	10	0.009100497	0.00206	T	0.005605	0.14469	T	0.032	0.07718	.	.	0.0806252709748	0.07271	0.31629097127188693	0.31542	0.0547453551122	0.06061	0.227164238691	0.01765	T	0.00329	0.03161	T	-0.586317	0.00176	T	-0.608441	0.12112	T	0.00318947470735191	0.00034	T	0.387861	0.12671	T	0.036615215	0.04537	0.06592769	0.13431	0.036615215	0.04537	0.06592769	0.13431	-3.071	0.10966	T	.	.	0.060	0.05188	B	.;.;.;.;.	.;.;.;.;.	0.804189	0.11749	8.325	0.77467315283828342	0.11888	0.12166	0.17101	N	AEFBI	0.172423	0.29946	N	-1.32781394930886	0.03361	0.1499837	-1.2817637082236	0.04676	0.2211651	0.997216457243705	0.35382	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.84	0.548	0.16397	1.052000	0.30039	1.590000	0.27524	-0.735000	0.03699	0.001000	0.13787	0.003000	0.18671	0.085000	0.17524	0.4342:0.0:0.5658:0.0	8.225	0.30726	952	0.10565	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	5596.11	35	chr14	21031160	.	G	A	5596.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.72;DP=1177;ExcessHet=0.1072;FS=1.103;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=1.27;SOR=0.600	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1428	19	0	2	0
chr14	21078422	21078422	G	A	exonic	ARHGEF40	.	nonsynonymous SNV	ARHGEF40:NM_001278529:exon10:c.G38A:p.R13Q	.	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.996	D	0.927	D	0.012	N	0.767	N	1.03	L	4.06	T	-1.054	T	0.019	T	0.463	3.198	16.71	3.55	1.066	2.551	10.085	0.064	0.00595788321693	7.7e-05	.	6.001e-05	9.921e-05	0	0.0002	0	6.154e-05	0	0	4.53e-05	7	154602	rs143591705	1.508e-05	1.71e-05	1.227e-05	1.791e-05	0.0007	9.87e-06	8.43e-06	0.0002	0.0001	0	0	0	2.52e-05	0	0.0007	1.081e-05	8.292e-05	0	3.943e-05	3.94e-05	3.854e-05	4.036e-05	0.0004	1.716e-05	1.13e-05	6.823e-05	2.855e-05	7.239e-05	0	0	0	0.0004	0	0	1.47e-05	0	0	0.151	0.24564	T	0.0	0.92824	D	0.994	0.66517	D	0.921	0.65636	D	0.011501	0.29512	N	0.161249	0.766929	0.29479	N	2.015	0.55033	M	4.06	0.03063	T	-1.43	0.35194	N	0.245	0.27673	-1.0541	0.13278	T	0.019	0.07986	T	10	0.17379004	0.32224	T	0.005958	0.15549	T	0.064	0.18567	.	.	0.44307954383	0.43928	0.20264851144894885	0.20181	0.27892697211	0.30372	0.400300204754	0.25110	T	0.022031	0.17054	T	-0.284398	0.10207	T	-0.420592	0.31008	T	0.205483470869028	0.20715	T	0.909909	0.68110	D	0.09716426	0.22898	0.091275536	0.21450	0.09716426	0.22897	0.091275536	0.21450	-4.486	0.30705	T	.	.	0.109	0.20896	B	.	.	4.389832	0.67742	25.1	0.99928323413200615	0.99222	0.81667	0.41025	D	AEFDBI	0.267596	0.38427	N	0.227091905038795	0.52515	3.425232	0.21866162991018	0.50882	3.275816	0.961305054390409	0.28545	0.67177	0.52595	0	0.563428	0.19063	0	0.702456	0.68683	0	0.604944	0.38103	0	.	.	4.47	3.55	0.39770	2.419000	0.44325	8.736000	0.78194	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.2041:0.7959:0.0	10.085	0.41583	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1354.98	111	chr14	21078422	.	G	A	1354.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.450e-01;DP=857;ExcessHet=0.0000;FS=0.707;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=0.056;SOR=0.808	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1373	20	0	1	0
chr14	21080771	21080771	G	A	exonic	ARHGEF40	.	nonsynonymous SNV	ARHGEF40:NM_001278529:exon12:c.G343A:p.A115T	.	.	390	1126	6	0	0	6	0.00265722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.0	B	0.001	B	0.993	N	1.000	N	-0.46	N	4.51	T	-0.881	T	0.002	T	0.037	-0.373	2.246	-9.21	-1.833	-1.435	11.026	0.034	0.00356314632786	0.0045	0.000399361	0.0044	0.0006	0.0003	0	0.0018	0.0076	0.0023	0.0002	0.0042755	661	154602	rs61753298	0.0046	0.0046	0.0047	0.0045	0.0056	0.0045	0.0044	0.0055	0.0054	0.0010	0.0005	0.0040	0	0.0020	0.0010	0.0056	0.0030	0.0003	0.0030	0.0030	0.0033	0.0028	0.0059	0.0028	0.0027	0.0054	0.0052	0.0006	0	0.0003	0.0032	0	0.0015	0	0.0059	0.0014	0.0004	0.867	0.02625	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.992513	0.07911	N	1.003880	1	0.08975	N	-0.46	0.02758	N	4.51	0.02015	T	0.32	0.03955	N	0.081	0.05670	-0.8812	0.49665	T	0.002	0.00676	T	10	0.004135877	0.00081	T	0.003563	0.08123	T	0.034	0.08419	.	.	0.0611884634855	0.05136	0.07004843245278676	0.06941	0.228419714177	0.25396	0.277922898531	0.07205	T	0.002928	0.02330	T	-0.768353	0.00013	T	-0.871335	0.00730	T	0.00624320750121457	0.00069	T	0.630437	0.24556	T	0.021964489	0.00829	0.04331633	0.05363	0.021964489	0.00829	0.04331633	0.05362	-4.84	0.35053	T	.	.	0.058	0.00717	B	.	.	0.007887	0.04336	1.104	0.45025487747761617	0.03504	0.00346	0.01789	N	AEFBI	0.029567	0.02814	N	-1.8360666780389	0.00463	0.01991488	-1.83025774136931	0.00667	0.02967362	0.999995202962829	0.74766	0.634777	0.41761	0	0.563428	0.19063	0	0.643519	0.47002	0	0.528226	0.09195	0	.	.	5.13	-9.21	0.00578	-1.181000	0.03194	-0.132000	0.11608	-0.858000	0.02657	0.000000	0.06391	0.000000	0.08366	0.966000	0.53164	0.796:0.0:0.106:0.0981	11.026	0.46961	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1275.98	33	chr14	21080771	.	G	A	1275.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.192e+00;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-1.969e+00;SOR=0.678	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1379	20	0	1	0
chr14	21085797	21085797	C	T	exonic	ARHGEF40	.	nonsynonymous SNV	ARHGEF40:NM_001278529:exon19:c.C1927T:p.P643S	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.017	B	0.018	B	0.002	N	0.996	N	1.275	L	2.77	T	-1.054	T	0.023	T	0.191	0.611	7.289	4.44	2.586	0.097	7.849	0.085	0.00476066575157	.	.	8.264e-06	0	8.655e-05	0	0	0	0	0	6.5e-06	1	154602	rs748474481	6.841e-07	6.84e-07	1.361e-06	0	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	6.569e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.47	0.08483	T	0.263	0.22828	T	0.017	0.17573	B	0.008	0.13708	B	0.002029	0.37411	N	0.123853	0.996459	0.23010	N	1.245	0.31408	L	2.77	0.11407	T	0.01	0.06868	N	0.27	0.30574	-1.0535	0.13440	T	0.023	0.09650	T	10	0.047242522	0.04017	T	0.004761	0.11879	T	0.085	0.24743	0.437	0.48993	0.322510055762	0.31862	0.47025139822132767	0.46944	0.245885684845	0.27115	0.448224335909	0.31701	T	0.00601	0.05450	T	-0.393706	0.02546	T	-0.63418	0.10099	T	0.112266914238153	0.13656	T	0.739226	0.35772	T	0.060136758	0.12305	0.051012747	0.08125	0.060136758	0.12304	0.051012747	0.08124	-5.958	0.45926	T	.	.	0.106	0.19639	B	.	.	2.305630	0.29507	18.14	0.92519096907926357	0.21960	0.11659	0.16779	N	AEFBCI	0.088514	0.17944	N	-0.277573789612731	0.30017	1.669823	-0.150602342809032	0.33387	1.909164	0.999999983223754	0.74766	0.67177	0.52595	0	0.59043	0.45803	0	0.702456	0.68683	0	0.528226	0.09195	0	.	.	5.52	4.44	0.53164	-0.011000	0.12659	3.314000	0.37488	0.599000	0.40250	0.000000	0.06391	0.998000	0.33993	0.996000	0.76049	0.0:0.7341:0.1685:0.0974	7.849	0.28606	958	0.09170	Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1874.98	34	chr14	21085797	.	C	T	1874.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=856;ExcessHet=0.0000;FS=0.597;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=0.635;SOR=0.781	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1434	20	0	1	0
chr14	21087322	21087322	G	A	exonic	ARHGEF40	.	nonsynonymous SNV	ARHGEF40:NM_001278529:exon21:c.G2104A:p.A702T	.	.	423	1095	4	0	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.999	D	0.96	D	0.000	D	1.000	D	0.69	N	4.29	T	-0.734	T	0.012	T	0.332	3.978	20.4	5.05	2.339	4.231	13.898	0.132	0.0189261813073	0.0044	0.00139776	0.0042	0.0007	0.0014	0	0.0067	0.0056	0.0090	0.0032	0.0041138	636	154602	rs55901089	0.0062	0.0062	0.0062	0.0063	0.0071	0.0061	0.0061	0.0070	0.0070	0.0010	0.0016	0.0023	2.523e-05	0.0073	0.0011	0.0071	0.0063	0.0029	0.0038	0.0038	0.0041	0.0035	0.0062	0.0036	0.0035	0.0057	0.0055	0.0011	0	0.0020	0.0029	0.0002	0.0063	0	0.0062	0.0019	0.0012	0.151	0.24564	T	0.045	0.49390	D	0.999	0.77913	D	0.96	0.70309	D	0.000248	0.46924	D	0.000000	0.607942	0.81001	D	1.445	0.36358	L	4.29	0.02462	T	-0.86	0.23372	N	0.488	0.52208	-0.7337	0.58776	T	0.012	0.04463	T	10	0.0101214945	0.00226	T	0.018926	0.41149	T	0.132	0.35948	.	.	0.503374072614	0.49975	0.37895161555303936	0.37810	0.840954648635	0.68066	0.708660542965	0.68400	T	0.009216	0.08406	T	-0.482514	0.00715	T	-0.463401	0.26230	T	0.0202180144932467	0.00722	T	0.817418	0.47426	T	0.12174102	0.28621	0.1018196	0.24385	0.12174102	0.28621	0.1018196	0.24384	-5.781	0.44408	T	.	.	0.397	0.59427	A	.	.	5.133952	0.85931	28.7	0.99868614860540739	0.94637	0.85461	0.44596	D	AEFDBHCIJ	0.596229	0.59048	D	0.416373474756849	0.62321	4.446252	0.456048396387857	0.65108	4.782028	0.999999998924645	0.74766	0.645754	0.44609	0	0.59043	0.45803	0	0.696144	0.63334	0	0.622129	0.49086	0	.	.	5.05	5.05	0.67566	4.395000	0.59439	10.003000	0.83052	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	13.898	0.63288	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	622.98	35	chr14	21087322	.	G	A	622.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.72;DP=741;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.39;ReadPosRankSum=0.249;SOR=0.582	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1116	20	0	1	0
chr14	21087989	21087989	C	A	exonic	ARHGEF40	.	nonsynonymous SNV	ARHGEF40:NM_001278530:exon21:c.C2123A:p.S708Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.991	D	0.000	D	0.931	D	0.55	N	4.07	T	-1.012	T	0.023	T	0.747	3.580	18.24	5.36	2.524	3.549	14.571	0.183	0.0124564039043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.006	0.70582	D	0.998	0.73220	D	0.991	0.79672	D	0.000256	0.46924	D	0.000000	0.931029	0.36976	D	0.55	0.14455	N	3.96	0.03354	T	-0.98	0.25986	N	0.527	0.55626	-1.0120	0.26291	T	0.023	0.09741	T	10	0.38054192	0.54160	T	0.012456	0.31052	T	0.183	0.45592	0.303	0.27164	0.459552425292	0.45580	0.5397186517066594	0.53896	0.977210706382	0.73603	0.657819867134	0.61098	T	0.028837	0.20796	T	0.0273104	0.55364	T	-0.198547	0.54783	T	0.861373841762543	0.51177	D	0.862114	0.55677	D	0.47522867	0.65610	0.49140364	0.70578	0.47522867	0.65610	0.49140364	0.70579	-6.436	0.49790	T	.	.	0.324	0.54789	B	.	.	5.596804	0.92423	32	0.99484363296827039	0.67069	0.71828	0.35183	D	AEFDBHCIJ	0.695956	0.65445	D	0.547130734265843	0.69908	5.424259	0.58261050408274	0.73694	6.012518	0.999999999999864	0.74766	0.722319	0.85440	0	0.626922	0.53725	0	0.698795	0.65105	0	0.463824	0.07026	1	.	.	5.36	5.36	0.76624	3.599000	0.53795	7.736000	0.67890	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	14.571	0.67800	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	451.98	42	chr14	21087989	.	C	A	451.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.081;DP=793;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.72;ReadPosRankSum=-7.220e-01;SOR=0.701	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1355	20	0	1	0
chr14	21325898	21325898	G	A	exonic	RPGRIP1	.	nonsynonymous SNV	RPGRIP1:NM_001377948:exon7:c.G1361A:p.R454Q	Cone-rod dystrophy 13;Leber congenital amaurosis 6	.	0	1506	15	1	0	17	0.00561241	.	.	693453	Leber_congenital_amaurosis_6|Cone-rod_dystrophy_13|not_provided|RPGRIP1-related_disorder	MONDO:MONDO:0013446,MedGen:C1854260,OMIM:613826,Orphanet:65|MONDO:MONDO:0011987,MedGen:C2750720,OMIM:608194,Orphanet:1872|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.87	T	0.398	B	0.04	B	0.287	N	1.000	N	0.37	N	-0.33	T	-0.744	T	0.284	T	0.662	-0.405	2.107	-6.62	-1.404	-2.075	15.125	0.490	0.0322246945111	0.0002	0.000798722	0.0011	0.0004	0.0003	0	0	0.0003	0.0011	0.0067	0.0009638	149	154602	rs190490019	0.0006	0.0006	0.0004	0.0008	0.0064	0.0006	0.0006	0.0060	0.0058	0.0002	0.0003	0	0	3.745e-05	0.0050	0.0002	0.0007	0.0064	0.0004	0.0004	0.0004	0.0005	0.0054	0.0003	0.0003	0.0038	0.0032	0.0003	0.0022	0.0002	0	0	0	0.0102	0.0003	0	0.0054	1.0	0.00964	T	0.541	0.09725	T	0.349	0.33622	B	0.032	0.22131	B	0.286809	0.14842	N	0.684772	0.999906	0.50806	D	0.44	0.12706	N	-2.27	0.87433	D	-0.84	0.22944	N	0.187	0.20395	-0.7438	0.58257	T	0.284	0.65586	T	10	0.006747812	0.00153	T	0.032225	0.54110	D	0.490	0.77720	.	.	0.475272412942	0.47157	0.3015833549836947	0.30071	0.0805848671954	0.09068	0.191362947226	0.00250	T	0.032141	0.34889	T	-0.280589	0.10605	T	-0.17335	0.57136	T	0.00918810290993421	0.00116	T	0.686231	0.30012	T	0.04214113	0.06338	0.06329578	0.12517	0.04487034	0.07249	0.053364787	0.08975	-5.598	0.42774	T	0.11389275314824104	0.10018	0.066	0.02829	B	.;.;.	.;.;.	-0.875070	0.00968	0.038	0.7542875413159863	0.11071	0.02542	0.07062	N	AEFGBI	0.086511	0.17540	N	-1.46759665035174	0.02082	0.09157344	-1.46362393799583	0.02649	0.1222133	0.999992836418719	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.71	-6.62	0.01646	-2.780000	0.00843	-5.372000	0.01743	-1.781000	0.00652	0.000000	0.06391	0.000000	0.08366	0.920000	0.45560	0.6499:0.0:0.3501:0.0	15.125	0.72152	952	0.10565	C2 domain;C2 domain;C2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	987.98	39	chr14	21325898	.	G	A	987.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.35;DP=815;ExcessHet=0.0000;FS=1.642;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.08;ReadPosRankSum=0.748;SOR=0.525	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,108,1620	20	0	1	0
chr14	21368292	21368292	T	A	exonic	SUPT16H	.	nonsynonymous SNV	SUPT16H:NM_007192:exon7:c.A932T:p.E311V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.178	B	0.137	B	0.000	D	1.000	D	1.72	L	-1.21	T	-0.522	T	0.366	T	0.682	2.543	14.46	5.56	2.241	5.791	14.980	0.465	0.059150294012	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1422556670	1.369e-06	1.368e-06	0	2.752e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.501	0.07720	T	0.658	0.06554	T	0.178	0.28960	B	0.137	0.33328	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.87	0.49600	L	-1.21	0.78645	T	-2.44	0.53420	N	0.328	0.36884	-0.5220	0.67840	T	0.366	0.72674	T	10	0.25267506	0.42625	T	0.05915	0.67566	D	0.465	0.76089	0.472	0.54699	0.351146185902	0.34720	0.8334246031594114	0.83301	1.21975213468	0.81049	0.687189280987	0.65302	T	0.220364	0.58363	T	0.14082	0.68402	D	-0.0354989	0.68003	D	0.347738951444626	0.26930	T	0.838216	0.51127	T	0.4201238	0.62100	0.20593607	0.44785	0.4201238	0.62100	0.20593607	0.44784	-6.874	0.53107	T	.	.	0.109	0.20819	B	.	.	3.960085	0.58072	23.9	0.97466856990786643	0.34115	0.97488	0.75073	D	AEFDBI	0.629475	0.61117	D	0.103390908250581	0.46621	2.899645	0.262543871867769	0.53367	3.505938	0.999999199905492	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.56	5.56	0.83678	5.773000	0.68552	7.725000	0.67498	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.980	0.70960	940	0.13648	Peptidase M24|FACT complex subunit SPT16	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1211.98	34	chr14	21368292	.	T	A	1211.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.138e+00;DP=776;ExcessHet=0.0000;FS=1.055;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.64;ReadPosRankSum=0.058;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485	20	0	1	0
chr14	21368293	21368293	C	A	exonic	SUPT16H	.	stopgain	SUPT16H:NM_007192:exon7:c.G931T:p.E311X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	7.983	40	5.56	2.778	5.515	18.651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162114539	1.369e-06	1.368e-06	0	2.752e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.89	0.88909	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619807	0.98345	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Dominant	High	9.317756	0.98766	40	0.99747762797392747	0.84002	0.97302	0.73898	D	AEFDBI	0.058435	0.10964	N	1.07270216490474	0.97595	16.40444	0.942780039646269	0.97181	15.71379	0.999888413327463	0.44867	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.56	5.56	0.83678	5.584000	0.67185	7.512000	0.59634	0.530000	0.24713	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.651	0.91388	940	0.13648	Peptidase M24|FACT complex subunit SPT16	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1211.98	34	chr14	21368293	.	C	A	1211.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.113;DP=778;ExcessHet=0.0000;FS=1.055;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.64;ReadPosRankSum=0.206;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485	20	0	1	0
chr14	21431303	21431303	G	A	exonic	CHD8	.	nonsynonymous SNV	CHD8:NM_001170629:exon2:c.C341T:p.T114M,	.	.	419	1102	1	0	0	1	0.000453515	.	.	268980	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	N	0	N	-2.46	D	-0.284	T	0.402	T	0.209	2.397	13.97	4.88	1.445	1.615	12.341	0.288	0.216791486836	0.0004	0.00139776	0.0005	0.0042	0.0027	0	0	0	0	0	0.0002393	37	154602	rs111250264	7.977e-05	7.867e-05	9.305e-05	6.621e-05	0.0021	6.757e-05	6.32e-05	0.0017	0.0015	0.0021	0.0002	0	0	0	0	2.386e-05	0.0002	2.47e-05	0.0009	0.0009	0.0010	0.0009	0.0033	0.0008	0.0008	0.0028	0.0027	0.0033	0	0.0003	0	0	0	0	1.47e-05	0.0009	0	0.052	0.39097	T	0.168	0.30631	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	0	0.06538	N	-2.46	0.88924	D	-0.29	0.71997	N	0.146	0.14763	-0.2836	0.75442	T	0.402	0.75309	T	7	0.007959813	0.00181	T	0.216791	0.87576	D	0.288	0.60691	.	.	0.569341392405	0.56599	0.15823194019030412	0.15744	0.552897332157	0.52078	0.335795581341	0.15808	T	0.121244	0.44407	T	-0.328363	0.06236	T	-0.249374	0.49878	T	0.0227765387134694	0.00997	T	0.749125	0.39073	T	0.04052661	0.05800	0.07842481	0.17563	0.04052661	0.05800	0.07842481	0.17563	-5.169	0.38625	T	.	.	0.084	0.14933	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.506136	0.32358	19.02	0.99489336597221112	0.67347	0.33080	0.24741	N	AEFDBI	0.063341	0.12235	N	-0.108168832384271	0.37037	2.149063	-0.0234473858405391	0.38659	2.280771	0.998677165756978	0.37434	0.706548	0.73137	0	0.653731	0.59785	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.77	4.88	0.63131	3.011000	0.49254	5.037000	0.46877	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.08:0.0:0.92:0.0	12.341	0.54419	929	0.16858	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2253.98	37	chr14	21431303	.	G	A	2253.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.80;DP=900;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=-8.850e-01;SOR=0.667	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1078	20	0	1	0
chr14	21525225	21525225	G	A	exonic	SALL2	.	nonsynonymous SNV	SALL2:NM_001364564:exon2:c.C497T:p.P166L	.	.	410	1088	23	1	0	25	0.0113585	.	.	714061	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.3	T	0.076	B	0.005	B	0.043	U	0.998	N	1.04	L	0.96	T	-0.828	T	0.191	T	0.354	0.575	7.104	3.55	1.078	-1.096	5.375	0.068	.	0.0045	0.00678914	0.0074	0.0015	0.0015	0.0150	0.0062	0.0083	0.0011	0.0084	0.0069986	1082	154602	rs144885457	0.0071	0.0071	0.0069	0.0073	0.0191	0.0070	0.0069	0.0179	0.0175	0.0011	0.0018	0.0039	0.0191	0.0062	0.0064	0.0072	0.0059	0.0079	0.0053	0.0053	0.0052	0.0055	0.0151	0.0050	0.0049	0.0124	0.0114	0.0014	0	0.0031	0.0026	0.0151	0.0061	0.0102	0.0074	0.0047	0.0085	0.006	0.61437	D	0.062	0.76473	T	.	.	.	.	.	.	0.042520	0.23835	U	0.208574	1	0.22536	N	.	.	.	0.96	0.42888	T	-0.54	0.16598	N	0.369	0.41063	-0.8278	0.53442	T	0.191	0.54315	T	10	0.0059674084	0.00134	T	.	.	.	0.068	0.19811	.	.	0.483521307902	0.47985	0.2965859705162703	0.29571	.	.	0.647013247013	0.59561	T	0.014523	0.12349	T	-0.483676	0.00704	T	-0.45457	0.27194	T	0.00542632714867944	0.00059	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.36254	B	.;.	.;.	3.522548	0.49381	22.8	0.9901226572476084	0.50399	0.58440	0.30642	D	AEFBCI	0.203746	0.33023	N	-0.554175389964988	0.20352	1.07229	-0.519018234792732	0.21637	1.171429	0.999947545010057	0.47345	0.627647	0.40530	0	0.588015	0.36545	0	0.672317	0.60874	0	0.586402	0.36253	0	.	.	4.46	3.55	0.39770	0.128000	0.15636	9.916000	0.82466	0.672000	0.70159	0.111000	0.23011	1.000000	0.68203	0.946000	0.48989	0.1017:0.0:0.6959:0.2024	5.375	0.15460	878	0.29785	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	740.98	41	chr14	21525225	.	G	A	740.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.296;DP=921;ExcessHet=0.0000;FS=2.234;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=-1.846e+00;SOR=0.857	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr14	21670621	21670621	C	T	exonic	OR4E1	.	nonsynonymous SNV	OR4E1:NM_001317107:exon1:c.G315A:p.M105I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1399647071	8.052e-06	9.542e-06	1.633e-05	0	0.0006	1.34e-06	5e-07	.	.	0	0	0	0	0	0.0006	6.31e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091584235	0.16056	T	.	.	.	.	.	.	.	.	.	0.10917285025132001	0.10846	.	.	.	.	.	0.008165	0.07514	T	.	.	.	.	.	.	.	.	.	0.711229	0.32236	T	0.21306947	0.43676	0.4642151	0.68901	0.21306947	0.43676	0.4642151	0.68901	-4.084	0.25054	T	.	.	0.496	0.64394	A	.;.	.;.	1.398067	0.18117	13.56	0.89646382657219881	0.18977	0.53151	0.29302	D	AEFBI	.	.	.	.	.	.	.	.	.	0.0329767874756108	0.14082	0.053691	0.00478	0	0.063388	0.01293	0	0.063197	0.01477	0	0.062806	0.01542	0	0.95832	0.64543	4.98	4.98	0.65679	-2.192000	0.01330	-1.153000	0.06175	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.998000	0.85391	0.0:0.9117:0.0:0.0883	10.735	0.45316	759	0.50631	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1042.98	40	chr14	21670621	.	C	T	1042.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.388e+00;DP=940;ExcessHet=0.0000;FS=0.709;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.91;ReadPosRankSum=-1.695e+00;SOR=0.829	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr14	22634468	22634468	G	T	exonic	OR6J1	.	nonsynonymous SNV	OR6J1:NM_001348233:exon1:c.C344A:p.T115K,	.	.	430	1035	53	3	1	60	0.0277125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	.	.	4.99	T	-0.982	T	0.009	T	0.52	1.594	11.29	3.26	0.676	1.987	10.711	0.128	.	.	0.00499201	0.0110	0.0043	0.0194	0	0.0018	0.0288	0.0206	0.0030	0.0031047	480	154602	rs45479894	0.0103	0.0092	0.0104	0.0103	0.0245	0.0101	0.0100	0.0207	0.0192	0.0023	0.0061	0.0462	0	0.0028	0.0245	0.0118	0.0129	0.0030	0.0084	0.0084	0.0087	0.0081	0.0124	0.0080	0.0078	0.0117	0.0114	0.0019	0	0.0071	0.0464	0	0.0038	0.0272	0.0124	0.0128	0.0025	0.001	0.78490	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.99	0.01332	T	-1.91	0.44471	N	0.41	0.45047	-0.9822	0.34491	T	0.009	0.03359	T	6	0.0034414232	0.00060	T	.	.	.	0.128	0.35103	.	.	0.0611884634855	0.05136	0.4842431135119104	0.48344	0.01446655118	0.01372	.	.	.	.	.	.	-0.486769	0.00677	T	-0.460956	0.26495	T	0.0432082476261269	0.04276	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.59511	A	.	.	2.151244	0.27404	17.45	0.94737256575521955	0.25423	0.34184	0.25007	N	AEFBHCIJ	0.138869	0.26029	N	-0.37963253818172	0.26195	1.427819	-0.514522690528442	0.21758	1.178588	0.994974875595424	0.33890	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.19	3.26	0.36471	2.570000	0.45645	0.848000	0.22109	-0.870000	0.02561	0.070000	0.22072	0.000000	0.08366	0.003000	0.05239	0.0:0.0:0.8074:0.1926	10.711	0.45179	899	0.25060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2353.98	37	chr14	22634468	.	G	T	2353.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.66;DP=1160;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=-4.740e-01;SOR=0.654	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr14	22904952	22904952	T	C	exonic	RBM23	.	nonsynonymous SNV	RBM23:NM_001077352:exon7:c.A685G:p.M229V	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.077	B	0.103	B	0.004	N	0.935	N	1.01	L	3.45	T	-0.959	T	0.063	T	0.264	2.672	14.89	-2.83	-0.772	0.338	5.908	0.031	0.00643910300736	0.0021	0.00239617	0.0008	0.0080	0.0005	0.0001	0	4.495e-05	0.0011	0.0007	0.0007891	122	154602	rs140983233	0.0003	0.0003	0.0003	0.0003	0.0058	0.0003	0.0002	0.0051	0.0048	0.0058	0.0004	0	0.0003	0	0.0009	7.284e-05	0.0006	0.0006	0.0018	0.0018	0.0018	0.0018	0.0061	0.0017	0.0016	0.0055	0.0053	0.0061	0	0.0009	0.0003	0.0002	0	0	0.0001	0	0.0004	0.073	0.42199	T	0.061	0.46182	T	0.077	0.24313	B	0.103	0.30945	B	0.004433	0.33751	N	0.284770	0.655152	0.37093	D	0.17	0.09006	N	-0.77	0.73523	T	-3.27	0.66665	D	0.306	0.42737	-0.9588	0.39405	T	0.063	0.26314	T	10	0.00851658	0.00193	T	0.006439	0.16956	T	0.073	0.21317	.	.	0.588233179549	0.58498	0.34683575917908993	0.34597	0.109721643832	0.12372	0.331896841526	0.15221	T	0.140093	0.47445	T	-0.404658	0.02157	T	-0.349615	0.39250	T	0.0121618805085523	0.00195	T	0.861914	0.57621	D	0.2224496	0.44844	0.21612099	0.46228	0.2224496	0.44844	0.21612099	0.46227	-10.911	0.79167	D	.	.	0.108	0.31100	B	.;.;.;.;.;.	.;.;.;.;.;.	0.595807	0.09641	6.415	0.9638416159980544	0.29630	0.32870	0.24690	N	AEFBI	0.115567	0.22718	N	-0.448417063372219	0.23793	1.280284	-0.496873013177861	0.22240	1.206999	0.999844869202041	0.43971	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.8	-2.83	0.05425	0.442000	0.21343	-0.753000	0.07569	0.665000	0.62972	0.144000	0.23566	0.000000	0.08366	0.997000	0.79791	0.0:0.2608:0.2286:0.5106	5.908	0.18254	794	0.45591	RNA recognition motif domain;RNA recognition motif domain;RNA recognition motif domain;RNA recognition motif domain;RNA recognition motif domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1298.98	69	chr14	22904952	.	T	C	1298.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.623;DP=1352;ExcessHet=0.0000;FS=4.577;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.30;ReadPosRankSum=-9.730e-01;SOR=0.781	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,120,1800	20	0	1	0
chr14	22929213	22929213	T	G	exonic	PRMT5	.	nonsynonymous SNV	PRMT5:NM_001039619:exon1:c.A13C:p.N5H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.0	B	0.0	B	.	.	1.000	D	0.345	N	.	.	-1.058	T	0.073	T	0.058	1.254	10.09	1.24	0.415	0.223	2.826	0.149	0.0062656355789	.	.	2.473e-05	0	0	0	0	2.998e-05	0	6.075e-05	1.94e-05	3	154602	rs750970626	2.121e-05	2.121e-05	1.906e-05	2.338e-05	0.0001	1.52e-05	1.324e-05	6.247e-05	4.758e-05	0	2.236e-05	0	0	0	0	1.709e-05	1.656e-05	0.0001	1.975e-05	1.971e-05	2.573e-05	1.349e-05	2.418e-05	5.25e-06	2.46e-06	.	.	2.418e-05	0	0	0	0	0	0	1.472e-05	0.0005	0	0.024	0.91255	D	0.186	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	-0.38	0.14588	N	0.399	0.44761	-1.0581	0.12235	T	0.073	0.29451	T	8	0.1365026	0.25970	T	0.006266	0.16435	T	0.149	0.39377	0.091	0.01065	0.35158688536	0.34763	.	.	.	.	.	.	.	.	.	.	-0.376256	0.03289	T	-0.541573	0.18143	T	0.10432717949152	0.12825	T	0.578742	0.20864	T	.	.	.	.	.	.	.	.	-3.834	0.25394	T	.	.	0.086	0.10787	B	.;.;.	.;.;.	1.944794	0.24705	16.49	0.80925919542576374	0.13435	0.39789	0.26291	N	AEFDGBHCI	0.256161	0.37514	N	-0.515147306304915	0.21590	1.146895	-0.379516602588657	0.25608	1.409328	0.999999999999937	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.84	1.24	0.20416	0.167000	0.16419	1.198000	0.24816	0.665000	0.62972	0.923000	0.32050	0.975000	0.29991	0.995000	0.73285	0.1868:0.1997:0.0:0.6135	2.826	0.05149	785	0.46916	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2273.98	33	chr14	22929213	.	T	G	2273.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.26;DP=858;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.47;ReadPosRankSum=-1.740e+00;SOR=0.649	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1339	20	0	1	0
chr14	23042370	23042370	G	A	exonic	PSMB11	.	nonsynonymous SNV	PSMB11:NM_001099780:exon1:c.G145A:p.G49S,	.	.	422	1087	12	1	0	14	0.00639854	.	.	702814	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.93	H	-0.83	T	0.364	D	0.482	T	0.917	4.932	28.6	5.4	2.536	7.124	17.980	0.729	.	0.0044	0.00838658	0.0075	0.0010	0.0034	0.0227	0.0116	0.0080	0.0100	0.0027	0.0073608	1138	154602	rs34457782	0.0071	0.0071	0.0071	0.0071	0.0256	0.0070	0.0069	0.0243	0.0238	0.0011	0.0034	0.0037	0.0256	0.0135	0.0062	0.0069	0.0070	0.0022	0.0060	0.0060	0.0061	0.0058	0.0274	0.0057	0.0055	0.0238	0.0224	0.0014	0.0022	0.0045	0.0043	0.0274	0.0114	0.0136	0.0069	0.0090	0.0021	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.045	0.97016	H	-0.83	0.74159	T	-5.54	0.86149	D	0.919	0.92200	0.364	0.88549	D	0.482	0.80230	T	10	0.015518874	0.00326	T	.	.	.	0.729	0.90501	.	.	0.866298555364	0.86500	0.8804463649467902	0.88012	0.606206283353	0.55474	0.699628949165	0.67090	T	0.337988	0.70730	T	0.0627332	0.59955	T	0.334921	0.89713	D	0.0990738712007421	0.12255	T	0.999355	0.99761	D	0.8976179	0.91171	0.8813787	0.93659	0.8976179	0.91172	0.8813787	0.93659	-10.849	0.78823	D	.	.	0.567	0.67488	P	.	.	4.668839	0.74591	26.2	0.99871181506189666	0.94902	0.98998	0.89743	D	AEFDBI	0.877648	0.80243	D	0.948043336876363	0.93906	12.36122	0.840108728278102	0.92425	11.41898	0.999999999999999	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.4	5.4	0.77957	8.961000	0.92959	9.995000	0.83008	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.243000	0.23080	0.0:0.0:1.0:0.0	17.980	0.89060	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2191.98	34	chr14	23042370	.	G	A	2191.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.58;DP=907;ExcessHet=0.0000;FS=0.594;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=-2.354e+00;SOR=0.610	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr14	23042569	23042569	G	A	exonic	PSMB11	.	nonsynonymous SNV	PSMB11:NM_001099780:exon1:c.G344A:p.R115Q,	.	.	424	1090	7	1	0	9	0.00411147	.	.	2810269	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.971	D	0.59	P	0.001	D	0.950	N	0.475	N	1.97	T	-1.087	T	0.046	T	0.326	3.768	19.13	5.24	2.454	2.855	12.689	0.100	0.0225218444397	0.0012	0.000798722	0.0018	0.0007	0.0005	0.0020	0.0009	0.0021	0.0022	0.0025	0.0017529	271	154602	rs202220440	0.0019	0.0019	0.0019	0.0020	0.0028	0.0019	0.0019	0.0025	0.0024	0.0003	0.0007	3.828e-05	0.0009	0.0007	0.0021	0.0022	0.0011	0.0028	0.0014	0.0014	0.0013	0.0015	0.0037	0.0013	0.0012	0.0024	0.0020	0.0006	0	0.0005	0.0003	0.0013	9.409e-05	0	0.0022	0.0009	0.0037	0.04	0.42199	D	0.032	0.53426	D	0.971	0.57185	D	0.59	0.50460	P	0.000822	0.41547	D	0.174739	0.950041	0.26517	N	0.55	0.14455	N	1.97	0.22067	T	0.38	0.03579	N	0.273	0.30914	-1.0875	0.05960	T	0.046	0.19680	T	10	0.0143787265	0.00303	T	0.022522	0.45416	T	0.100	0.28662	.	.	0.580281640613	0.57699	0.5769268162885889	0.57621	0.595449407768	0.54820	0.467669606209	0.34360	T	0.043697	0.26582	T	-0.495346	0.00607	T	-0.489233	0.23473	T	0.0223918970949931	0.00953	T	0.916508	0.70155	D	0.19990437	0.41946	0.12512404	0.30151	0.19990437	0.41946	0.12512404	0.30150	-2.607	0.06556	T	.	.	0.104	0.18663	B	.	.	4.707604	0.75589	26.4	0.99949124476078999	0.99931	0.66253	0.33014	D	AEFDBCI	0.221739	0.34632	N	0.333856847966125	0.57894	3.958678	0.396283842639736	0.61335	4.332199	0.999999718240746	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.24	5.24	0.72863	2.898000	0.48370	9.989000	0.82972	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.967000	0.53440	0.0:0.0:0.835:0.165	12.689	0.56329	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1852.98	34	chr14	23042569	.	G	A	1852.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=967;ExcessHet=0.0000;FS=3.438;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.13;ReadPosRankSum=2.37;SOR=0.485	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr14	23042730	23042730	C	T	exonic	PSMB11	.	nonsynonymous SNV	PSMB11:NM_001099780:exon1:c.C505T:p.R169C,	.	.	423	1083	16	0	0	16	0.00733272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.407	B	0.02	B	0.007	N	0.720	N	1.87	L	1.98	T	-1.079	T	0.025	T	0.134	0.833	8.358	0.415	-0.234	0.534	4.920	0.082	0.00675155771635	0.0010	0.00159744	0.0015	0.0005	0.0004	0	0	0.0020	0.0011	0.0023	0.0014618	226	154602	rs200339082	0.0012	0.0012	0.0010	0.0013	0.0121	0.0011	0.0011	0.0099	0.0090	0.0003	0.0007	0.0144	5.039e-05	5.706e-05	0.0121	0.0007	0.0023	0.0033	0.0013	0.0013	0.0014	0.0012	0.0031	0.0011	0.0011	0.0024	0.0022	0.0004	0	0.0031	0.0127	0	9.409e-05	0.0136	0.0010	0.0024	0.0025	0.092	0.31682	T	0.091	0.40110	T	0.407	0.34981	B	0.02	0.19048	B	0.007149	0.31570	N	0.331635	0.719579	0.29935	N	1.57	0.39626	L	1.98	0.21865	T	-6.78	0.92825	D	0.105	0.08925	-1.0788	0.07582	T	0.025	0.10777	T	10	0.004525423	0.00093	T	0.006752	0.17840	T	0.082	0.23913	.	.	0.231231049324	0.22751	0.7130113112798295	0.71243	0.197695114079	0.22139	0.23636816442	0.02472	T	0.254047	0.62465	T	-0.596055	0.00154	T	-0.632019	0.10262	T	0.0262100873119283	0.01435	T	0.931307	0.74459	D	0.3074701	0.53566	0.24831097	0.50379	0.3074701	0.53566	0.24831097	0.50378	-7.312	0.56281	T	.	.	0.062	0.01252	B	.	.	1.760417	0.22389	15.60	0.98335697913952647	0.40388	0.28353	0.23531	N	AEFDGBHCI	0.116204	0.22815	N	-0.643985651720558	0.17635	0.9091565	-0.735476993225821	0.16080	0.8489407	0.999999189375987	0.74766	0.520426	0.21595	0	0.573888	0.26702	0	0.440839	0.06518	1	0.613276	0.41899	0	.	.	5.36	0.415	0.15628	0.382000	0.20364	-0.128000	0.11649	0.599000	0.40250	0.002000	0.15269	0.000000	0.08366	0.974000	0.55675	0.1376:0.4695:0.0:0.3929	4.920	0.13220	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3409.98	34	chr14	23042730	.	C	T	3409.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.18;DP=1021;ExcessHet=0.0000;FS=1.623;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.09;ReadPosRankSum=1.10;SOR=0.571	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr14	23101429	23101429	G	T	exonic	LMLN2	.	nonsynonymous SNV	LMLN2:NM_001354640:exon13:c.C1612A:p.P538T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16066426	0.30157	T	.	.	.	.	.	.	.	.	.	0.13372577843733077	0.13296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.384162	0.09403	T	0.12466957	0.29245	0.21152586	0.45585	0.12466957	0.29244	0.21152586	0.45584	-4.355	0.28941	T	.	.	0.075	0.05535	B	.;.	.;.	2.066697	0.26282	17.06	0.60911711600687635	0.06579	0.56326	0.30088	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999943124698134	0.47345	0.074388	0.01536	0	0.060609	0.00678	0	0.091713	0.02954	0	0.058706	0.01089	0	0.148253	0.27256	4.9	0.577	0.16569	0.976000	0.29059	3.043000	0.36089	0.676000	0.76740	0.868000	0.30757	0.940000	0.28757	0.366000	0.26021	0.2761:0.1608:0.5631:0.0	4.624	0.11853	889	0.27310	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04167	32.85	57	chr14	23101429	.	G	T	32.85	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-9.670e-01;DP=57;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1540;MLEAC=2;MLEAF=0.083;MQ=60.00;MQRankSum=0.00;QD=10.95;ReadPosRankSum=-9.670e-01;SOR=0.223	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,49	11	0	1	9
chr14	23101513	23101513	G	T	exonic	LMLN2	.	nonsynonymous SNV	LMLN2:NM_001354640:exon13:c.C1528A:p.H510N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.771e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17401928	0.32259	T	.	.	.	.	.	.	.	.	.	0.11766489636346365	0.11693	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381362	0.09225	T	0.07784265	0.17692	0.200126	0.43929	0.07784265	0.17692	0.200126	0.43928	-3.777	0.20461	T	.	.	0.192	0.41187	B	.;.	.;.	2.786941	0.36622	20.3	0.67460996746542579	0.08361	0.39750	0.26282	N	AEFDBIJ	.	.	.	.	.	.	.	.	.	0.999989759576928	0.51787	0.087844	0.02253	0	0.060609	0.00678	0	0.106748	0.03127	0	0.058706	0.01089	0	0.581119	0.40493	5.59	3.75	0.42236	1.344000	0.33547	4.484000	0.43545	0.676000	0.76740	0.908000	0.31627	1.000000	0.68203	0.967000	0.53440	0.164:0.1482:0.6878:0.0	6.480	0.21254	889	0.27310	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	33.07	45	chr14	23101513	.	G	T	33.07	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-5.240e-01;DP=45;ExcessHet=0.0000;FS=0.000;MLEAC=3;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=6.61;ReadPosRankSum=0.674;SOR=0.368	GT:AD:DP:GQ:PL	./.	5	0	1	15
chr14	23104899	23104901	GCA	-	exonic	LMLN2	.	nonframeshift deletion	LMLN2:NM_001354640:exon1:c.20_22del:p.L11del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	713.64	28	chr14	23104886	.	GGCAGCAGCAGCAGCA	GGCAGCAGCAGCA,G	713.64	.	AC=1,2;AF=0.028,0.056;AN=36;BaseQRankSum=4.000e-03;DP=459;ExcessHet=0.3892;FS=0.890;InbreedingCoeff=0.1411;MLEAC=1,2;MLEAF=0.028,0.056;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=0.261;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:16,0,0:16:30:.:.:0,30,450,30,450,450	15	0	1	3
chr14	23276449	23276449	C	T	exonic	HOMEZ	.	nonsynonymous SNV	HOMEZ:NM_020834:exon2:c.G779A:p.R260Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.013	B	0.006	B	0.751	N	1.000	N	0.695	N	1.96	T	-0.956	T	0.026	T	0.098	-1.013	0.242	0.12	-0.144	-0.798	2.687	0.042	0.00395751547084	.	.	4.142e-05	0	0	0	0	1.499e-05	0	0.0002	3.84e-05	1	26028	rs754351710	1.71e-05	1.71e-05	1.497e-05	1.925e-05	0.0001	1.174e-05	9.92e-06	7.997e-05	6.236e-05	0	0	0	2.519e-05	0	0	8.994e-06	3.313e-05	0.0001	2.628e-05	2.627e-05	1.284e-05	4.034e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.09	0.31987	T	0.437	0.15355	T	0.007	0.14184	B	0.003	0.08700	B	0.751494	0.09696	N	0.878989	1	0.08975	N	1.245	0.31408	L	1.96	0.22270	T	0.36	0.03700	N	0.086	0.09490	-0.9563	0.39861	T	0.026	0.10954	T	10	0.045953363	0.03728	T	0.003958	0.09368	T	0.042	0.11227	0.215	0.13498	0.180583059064	0.17676	0.21035496135806417	0.20951	0.277029944497	0.30173	0.25550994277	0.04370	T	9.72E-4	0.08389	T	-0.480885	0.00731	T	-0.668856	0.07682	T	0.0158105255509071	0.00369	T	0.690631	0.30012	T	0.06829913	0.14868	0.057703607	0.10537	0.06829913	0.14868	0.057703607	0.10536	-2.573	0.06300	T	.	.	0.070	0.08368	B	.;.;.	.;.;.	-0.101569	0.03631	0.721	0.70244898355177854	0.09233	0.05294	0.11139	N	AEFBCI	0.078903	0.15928	N	-1.0919520303343	0.06790	0.3136144	-1.10371245765033	0.07629	0.3718422	0.994271635931118	0.33564	0.706298	0.61202	0	0.709663	0.81188	0	0.693144	0.63139	0	0.635551	0.53088	0	.	.	5.28	0.12	0.13994	-0.246000	0.08896	-1.043000	0.06508	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.1384:0.4405:0.2686:0.1525	2.687	0.04795	845	0.36510	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1690.98	42	chr14	23276449	.	C	T	1690.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.43;DP=1437;ExcessHet=0.0000;FS=4.441;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.09;ReadPosRankSum=2.12;SOR=1.104	GT:AD:DP:GQ:PL	0/0:93,0:93:99:0,120,1800	20	0	1	0
chr14	23301730	23301730	G	T	exonic	PPP1R3E	.	nonsynonymous SNV	PPP1R3E:NM_001276318:exon2:c.C546A:p.D182E,	.	.	381	1140	1	0	0	1	0.000438404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	0.006	U	1.000	D	.	.	-0.0	T	-0.413	T	0.319	T	0.549	4.768	26.8	4.76	2.472	1.328	10.310	0.354	0.922734118274	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs930997612	0.0001	0.0001	0.0001	9.023e-05	0.0003	9.382e-05	8.793e-05	0.0001	0.0001	0	5.081e-05	4.7e-05	0	0	0.0003	0.0001	1.943e-05	0	4.611e-05	4.599e-05	6.437e-05	2.698e-05	8.832e-05	2.114e-05	1.53e-05	3.766e-05	2.578e-05	0	0	6.559e-05	0	0	0	0	8.832e-05	0	0	0.009	0.57480	D	0.013	0.63109	D	.	.	.	.	.	.	0.005615	0.32654	U	0.114014	0.999663	0.48141	D	0.69	0.16971	N	-0.0	0.62608	T	-1.32	0.32991	N	0.388	0.42931	-0.4127	0.71624	T	0.319	0.68839	T	7	0.4323878	0.57575	T	0.922734	0.99433	D	0.354	0.67510	0.571	0.69431	0.348983352498	0.34513	0.4911857667655528	0.49039	.	.	0.951057434082	0.99773	D	0.063089	0.32086	T	-0.0443099	0.45307	T	-0.107116	0.62840	T	0.450525492429733	0.30817	T	0.50025	0.15636	T	0.30167073	0.53054	0.3513654	0.60731	0.30167073	0.53054	0.3513654	0.60730	-7.723	0.59167	D	.	.	0.837	0.79086	P	.	.	4.609409	0.73081	25.9	0.99661730720406283	0.78011	0.72126	0.35315	D	ALL	0.364503	0.45302	N	0.26071795204723	0.54170	3.583379	0.315907232019369	0.56475	3.81078	1.0	0.98316	0.024636	0.00146	3	0.374146	0.05931	1	0.239995	0.05000	1	0.56214	0.19341	0	.	.	4.76	4.76	0.60189	1.747000	0.37925	9.372000	0.80454	0.590000	0.31872	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.0918:0.0:0.9082:0.0	10.310	0.42887	814	0.42100	CBM21 (carbohydrate binding type-21) domain|CBM21 (carbohydrate binding type-21) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1517.98	34	chr14	23301730	.	G	T	1517.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.259;DP=874;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.73;ReadPosRankSum=0.130;SOR=0.724	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1066	20	0	1	0
chr14	23359769	23359769	C	T	exonic	EFS	.	nonsynonymous SNV	EFS:NM_001385607:exon3:c.G430A:p.E144K	.	.	403	1092	27	0	0	27	0.0122117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	1.0	D	0.994	D	0.027	N	1.000	D	2.075	M	0.66	T	-0.686	T	0.290	T	0.524	4.191	21.7	4.74	2.459	2.059	16.640	0.217	.	0.0021	0.00339457	0.0031	0	0.0021	0.0001	0.0029	0.0038	0.0026	0.0065	0.002943	455	154602	rs115218741	0.0025	0.0026	0.0023	0.0028	0.0104	0.0025	0.0024	0.0082	0.0074	0.0002	0.0014	0.0153	0	0.0012	0.0104	0.0022	0.0032	0.0068	0.0026	0.0026	0.0026	0.0027	0.0070	0.0024	0.0023	0.0052	0.0045	0.0003	0.0099	0.0012	0.0156	0.0002	0.0027	0.0034	0.0035	0.0028	0.0070	0.074	0.91255	T	0.677	0.20551	T	1.0	0.90584	D	0.981	0.82059	D	0.027196	0.25796	N	0.386281	1	0.81001	D	1.585	0.39878	L	0.39	0.57419	T	-0.52	0.31375	N	0.469	0.56833	-0.6864	0.61076	T	0.290	0.66153	T	10	0.006389618	0.00145	T	.	.	.	0.217	0.51112	.	.	0.772507708426	0.77042	0.42707260885334847	0.42624	0.577584500276	0.53677	0.706908106804	0.68145	T	0.05622	0.30227	T	-0.325667	0.06445	T	-0.238102	0.50983	T	0.0118301181174284	0.00184	T	0.884611	0.61727	D	0.1934456	0.41055	0.13702153	0.32765	0.1934456	0.41055	0.13702153	0.32764	-2.478	0.10138	T	.	.	0.222	0.61552	B	.;.	.;.	4.545615	0.71494	25.7	0.99921253721777525	0.98787	0.45200	0.27486	N	AEFDBI	0.082063	0.16612	N	0.440590834040716	0.63673	4.605446	0.412869474435724	0.62366	4.45079	0.999990391923078	0.74766	0.634777	0.41761	0	0.59043	0.45803	0	0.643519	0.47002	0	0.562822	0.20929	0	.	.	4.74	4.74	0.59717	2.588000	0.45802	7.714000	0.66958	0.596000	0.33519	0.360000	0.25842	1.000000	0.68203	0.943000	0.48514	0.0:1.0:0.0:0.0	16.640	0.84925	479	0.77495	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1087.98	33	chr14	23359769	.	C	T	1087.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=826;ExcessHet=0.0000;FS=6.869;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.00;ReadPosRankSum=-7.850e-01;SOR=1.571	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1169	20	0	1	0
chr14	23360011	23360011	C	T	exonic	EFS	.	nonsynonymous SNV	EFS:NM_001277174:exon3:c.G188A:p.R63Q	.	.	418	1100	4	0	0	4	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	1.0	D	0.996	D	0.132	N	0.711	N	2.255	M	0.42	T	-0.853	T	0.167	T	0.042	2.989	15.97	2.4	0.823	1.506	5.783	0.144	.	0.0086	0.00898562	0.0032	0.0265	0.0040	0	0	0.0010	0.0100	0.0003	0.0030077	465	154602	rs2231804	0.0015	0.0015	0.0015	0.0014	0.0262	0.0014	0.0014	0.0247	0.0242	0.0262	0.0037	0.0025	0	3.855e-05	0.0074	0.0006	0.0038	0.0006	0.0090	0.0090	0.0090	0.0091	0.0269	0.0086	0.0084	0.0256	0.0250	0.0269	0	0.0099	0.0032	0	0	0.0071	0.0009	0.0133	0.0004	0.011	0.91255	D	0.455	0.38016	T	0.999	0.90584	D	0.978	0.84481	D	0.132467	0.18585	N	0.544164	0.999669	0.30017	N	2.36	0.67893	M	0.33	0.58323	T	-0.74	0.31576	N	0.186	0.28849	-0.8527	0.51781	T	0.167	0.50665	T	10	0.0030246377	0.00050	T	.	.	.	0.144	0.38394	.	.	0.736870547324	0.73451	0.3245234884685351	0.32365	0.142536895291	0.16080	0.486385941505	0.36937	T	0.075309	0.35147	T	-0.531149	0.00378	T	-0.514785	0.20825	T	0.00688037930454916	0.00078	T	0.910809	0.68911	D	0.107339226	0.25381	0.07507168	0.16489	0.107339226	0.25381	0.07507168	0.16489	-3.434	0.22888	T	.	.	0.089	0.14523	B	.;.;.	.;.;.	3.122078	0.42153	21.5	0.99935402087513536	0.99579	0.86863	0.46239	D	AEFBI	0.188058	0.31534	N	-0.0500458184607998	0.39600	2.337918	-0.12051940279549	0.34562	1.989595	0.937156599884856	0.27285	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.604944	0.38103	0	.	.	5.32	2.4	0.28568	0.852000	0.27417	3.262000	0.37098	0.599000	0.40250	0.439000	0.26479	0.998000	0.33993	0.823000	0.38780	0.1545:0.6795:0.0:0.1659	5.783	0.17581	479	0.77495	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1034.98	33	chr14	23360011	.	C	T	1034.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.163;DP=850;ExcessHet=0.0000;FS=3.643;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.67;ReadPosRankSum=-1.955e+00;SOR=0.421	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1169	20	0	1	0
chr14	23375644	23375644	C	T	exonic	IL25	.	nonsynonymous SNV	IL25:NM_022789:exon2:c.C298T:p.R100W	.	.	432	1072	18	0	0	18	0.00832562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.993	D	0.000	D	0.732	D	2.685	M	-0.47	T	0.126	D	0.420	T	0.695	3.654	18.58	3.68	1.141	2.260	8.792	0.437	0.118937440215	0.0008	0.000798722	0.0005	0.0004	0.0004	0	0	0.0007	0.0011	0.0005	0.0005239	81	154602	rs145160878	0.0006	0.0006	0.0005	0.0006	0.0108	0.0005	0.0005	0.0086	0.0079	0.0010	0.0008	0.0029	7.557e-05	5.618e-05	0.0108	0.0004	0.0012	0.0005	0.0005	0.0005	0.0005	0.0006	0.0006	0.0004	0.0004	0.0005	0.0004	0.0003	0.0011	0.0006	0.0023	0	0	0.0102	0.0006	0.0014	0.0006	0.001	0.78490	D	0.0	0.92824	D	0.917	0.90584	P	0.291	0.81110	B	0.000118	0.50451	D	0.000000	0.732341	0.33732	D	3.185	0.88900	M	-0.47	0.70133	T	-7.97	0.96368	D	0.465	0.54496	0.126	0.84637	D	0.420	0.76523	T	10	0.06336105	0.08242	T	0.118937	0.79911	D	0.437	0.74164	.	.	0.889913079512	0.88882	0.7064501707649586	0.70587	0.475443501588	0.46719	0.498060941696	0.38557	T	0.840634	0.96280	D	-0.106146	0.35407	T	-0.0156035	0.69318	D	0.0995890461447737	0.12313	T	0.824718	0.48674	T	0.82282305	0.85411	0.7502174	0.85236	0.82282305	0.85412	0.7502174	0.85237	-9.613	0.72656	D	.	.	0.905	0.85185	P	.;.	.;.	6.019804	0.94358	34	0.99892346144251065	0.96589	0.85644	0.44799	D	AEFDBI	0.409822	0.48095	N	0.424992744841494	0.62801	4.502048	0.368338503091793	0.59619	4.141399	0.99929969107841	0.39042	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.542086	0.14980	0	.	.	4.57	3.68	0.41359	2.291000	0.43202	2.641000	0.33754	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.8959:0.0:0.1041	8.792	0.34016	373	0.84140	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1045.98	35	chr14	23375644	.	C	T	1045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.38;ReadPosRankSum=-2.290e-01;SOR=0.788	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1195	20	0	1	0
chr14	23378482	23378482	G	A	exonic	CMTM5	.	nonsynonymous SNV	CMTM5:NM_001037288:exon2:c.G260A:p.R87Q	.	.	419	1102	1	0	0	1	0.000453515	.	.	3305132	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.25	T	1.0	D	0.91	D	0.008	N	1.000	N	1.245	L	1.76	T	-0.904	T	0.148	T	0.436	3.117	16.42	5.05	1.527	1.649	8.576	0.118	0.0213839303923	0.0002	.	9.061e-05	0	0.0002	0	0	0.0001	0	0	7.12e-05	11	154602	rs139744261	4.994e-05	4.994e-05	5.173e-05	4.813e-05	6.709e-05	4.059e-05	3.734e-05	1.779e-05	1.15e-05	2.987e-05	6.709e-05	0.0013	0	0	0	2.068e-05	0.0001	2.319e-05	4.602e-05	4.596e-05	5.139e-05	4.039e-05	6.547e-05	2.11e-05	1.528e-05	.	.	0	0	6.547e-05	0.0012	0	0	0	1.47e-05	0.0005	0	0.103	0.34444	T	0.128	0.92824	T	1.0	0.90584	D	0.91	0.64641	D	0.008453	0.30835	N	0.226724	1	0.81001	D	1.01	0.25309	L	1.76	0.44461	T	-1.28	0.33598	N	0.324	0.36464	-0.9039	0.47572	T	0.148	0.47362	T	10	0.038475484	0.02268	T	0.021384	0.44151	T	0.118	0.32913	.	.	0.638873723364	0.63589	0.4278030796054202	0.42697	0.182628553188	0.20529	0.374113380909	0.21419	T	0.013175	0.11445	T	-0.25075	0.14005	T	-0.422114	0.30832	T	0.231551021337509	0.22025	T	0.79842	0.45334	T	0.077549934	0.17607	0.09496661	0.22503	0.077549934	0.17607	0.09496661	0.22502	-2.709	0.38728	T	.	.	0.086	0.38587	B	.;.;.;.;.	.;.;.;.;.	3.996810	0.58859	24.0	0.99896961888383151	0.96971	0.31854	0.24441	N	AEFGBI	0.215471	0.34083	N	-0.249223380063814	0.31133	1.742782	-0.195149752338082	0.31715	1.797418	0.999874947614461	0.44625	0.549168	0.22868	0	0.59043	0.45803	0	0.590023	0.30420	0	0.542086	0.14980	0	.	.	5.94	5.05	0.67566	1.947000	0.39919	5.081000	0.47267	0.676000	0.76740	0.132000	0.23378	0.998000	0.33993	0.540000	0.29938	0.0804:0.1529:0.7667:0.0	8.576	0.32761	372	0.84213	.;.;Marvel domain|Marvel domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3252.98	39	chr14	23378482	.	G	A	3252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.00;DP=1009;ExcessHet=0.0000;FS=2.502;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.88;ReadPosRankSum=0.058;SOR=0.730	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1335	20	0	1	0
chr14	23379483	23379483	A	T	exonic	CMTM5	.	nonsynonymous SNV	CMTM5:NM_001288745:exon3:c.A221T:p.Q74L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.962	D	0.946	D	0.880	N	0.754	N	0.975	L	1.46	T	-0.812	T	0.223	T	0.605	4.404	23.3	5.44	2.288	3.103	13.123	0.145	0.0294911799887	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.91255	D	0.006	0.92824	D	0.962	0.55554	D	0.946	0.68276	D	0.880037	0.08762	N	0.940554	0.913831	0.29610	N	.	.	.	1.46	0.50976	T	-1.25	0.50337	N	0.494	0.64223	-0.8116	0.54454	T	0.223	0.58639	T	10	0.26880813	0.44402	T	0.029491	0.51987	D	0.145	0.38592	0.178	0.08503	0.789619458753	0.78766	0.3565361997943544	0.35567	0.328248128449	0.34941	0.418658703566	0.27653	T	0.01733	0.14159	T	-0.0106935	0.50168	T	-0.253137	0.49507	T	0.98339569568634	0.75077	D	0.70043	0.31009	T	0.2114823	0.43474	0.29004893	0.55026	0.2114823	0.43474	0.29004893	0.55026	-2.774	0.20044	T	.	.	0.126	0.41962	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.132617	0.61850	24.4	0.99405359020348227	0.63028	0.95260	0.64034	D	AEFDBI	0.588607	0.58580	D	0.300723598046533	0.56187	3.782984	0.388699083308358	0.60869	4.279352	0.999951293893713	0.48110	0.559995	0.30671	0	0.59043	0.45803	0	0.527494	0.11647	0	0.542086	0.14980	0	.	.	5.44	5.44	0.79348	4.677000	0.61324	4.870000	0.45558	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.841000	0.39698	1.0:0.0:0.0:0.0	13.123	0.58757	371	0.84287	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	908.98	30	chr14	23379483	.	A	T	908.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.040e-01;DP=767;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.67;ReadPosRankSum=1.95;SOR=0.883	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1335	20	0	1	0
chr14	23475303	23475303	C	G	exonic	NGDN	.	nonsynonymous SNV	NGDN:NM_001042635:exon4:c.C277G:p.R93G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	3.05	M	-0.16	T	0.200	D	0.579	D	0.99	3.850	19.56	6.17	2.941	3.071	19.651	0.523	0.0653704827456	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.15	0.88382	M	-0.16	0.65378	T	-6.84	0.93217	D	0.92	0.92317	0.200	0.85900	D	0.579	0.84818	D	10	0.9746983	0.97191	D	0.06537	0.69559	D	0.618	0.85144	0.945	0.99302	0.877283266246	0.87608	0.7525379672240016	0.75200	0.540360582224	0.51234	0.583938539028	0.50640	T	0.726476	0.92310	D	0.359815	0.87239	D	0.279073	0.87073	D	0.967656036534979	0.67980	D	0.956104	0.83579	D	0.96912986	0.98179	0.93916166	0.97712	0.96912986	0.98179	0.93916166	0.97712	-11.648	0.83094	D	.	.	0.91	0.84122	P	.;.;.	.;.;.	5.051683	0.84147	28.2	0.998981552953501	0.97048	0.97509	0.75211	D	AEFBI	0.666361	0.63485	D	0.566658721480209	0.71101	5.600187	0.616395010638383	0.76130	6.434643	0.961396517317286	0.28551	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	3.585000	0.53686	7.607000	0.61769	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.651	0.95800	478	0.77585	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	935.98	66	chr14	23475303	.	C	G	935.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.548;DP=1481;ExcessHet=0.0000;FS=0.988;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=0.340;SOR=0.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:81,0:81:99:.:.:0,120,1800	20	0	1	0
chr14	23522225	23522225	G	T	exonic	ZFHX2	.	nonsynonymous SNV	ZFHX2:NM_033400:exon10:c.C7456A:p.P2486T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.022	B	0.015	B	0.068	N	0.856	N	0.2	N	0.94	T	-1.018	T	0.051	T	0.249	-0.835	0.585	1.76	0.185	0.087	14.455	0.050	0.00465226949775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.131e-05	1.163e-05	1.178e-05	1.082e-05	1.43e-05	6.79e-06	5.39e-06	8.59e-06	6.81e-06	0	0	0	0	0	0	1.43e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.765	0.03431	T	0.839	0.03621	T	0.022	0.18677	B	0.015	0.17295	B	0.067574	0.21731	N	0.332690	0.856093	0.35305	D	0.09	0.08384	N	0.94	0.43672	T	1.72	0.00564	N	0.242	0.27316	-1.0176	0.24495	T	0.051	0.21806	T	10	0.056679785	0.06391	T	0.004652	0.11534	T	0.050	0.13987	0.303	0.27164	0.0611884634855	0.05136	0.27860524098580447	0.27773	.	.	0.413457691669	0.26936	T	4.18E-4	0.00135	T	-0.200611	0.20718	T	-0.52594	0.19694	T	0.149096950888634	0.17031	T	0.630337	0.24523	T	0.04796552	0.08284	0.05337788	0.08979	0.04796552	0.08284	0.05337788	0.08978	-4.773	0.34275	T	.	.	0.095	0.15070	B	.	.	2.361559	0.30291	18.39	0.83822182919357868	0.14939	0.11866	0.16912	N	AEFDBCI	0.070753	0.14057	N	-0.990745934681613	0.08800	0.4140378	-0.896582938916083	0.12174	0.6247235	0.99886709839992	0.37845	0.634777	0.41761	0	0.550933	0.16991	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	4.81	1.76	0.23776	3.899000	0.56000	3.202000	0.36756	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:0.4405:0.5595:0.0	14.455	0.66988	575	0.70088	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1149.98	34	chr14	23522225	.	G	T	1149.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.43;DP=797;ExcessHet=0.0000;FS=0.803;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=0.094;SOR=0.578	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1163	20	0	1	0
chr14	23534962	23534962	C	T	exonic	ZFHX2	.	nonsynonymous SNV	ZFHX2:NM_033400:exon2:c.G364A:p.A122T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.007	U	0.861	N	0.975	L	-1.61	D	-0.266	T	0.437	T	0.465	2.590	14.62	3.74	2.414	2.794	10.515	0.420	0.142557076801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.007218	0.31533	U	0.000000	0.861328	0.28351	N	1.935	0.51832	L	-1.61	0.82254	D	-3.33	0.74051	D	0.22	0.39558	-0.2656	0.75934	T	0.437	0.77650	T	8	0.3640148	0.52957	T	0.142557	0.82493	D	0.420	0.72930	0.278	0.23164	0.4018988957	0.39804	0.17034001207389218	0.16954	.	.	0.420418977737	0.27894	T	0.097635	0.40065	T	0.0832664	0.62420	D	-0.11817	0.61951	T	0.961801648139954	0.66186	D	0.680032	0.29288	T	0.37331483	0.58829	0.502965	0.71268	0.37331483	0.58829	0.502965	0.71269	-3.81	0.20954	T	.	.	0.403	0.63013	A	.;.;.;.	.;.;.;.	3.447179	0.47979	22.5	0.99404564776103366	0.62981	0.91808	0.54307	D	AEFDBI	0.314843	0.41959	N	0.227960076226766	0.52558	3.429227	0.293603142836309	0.55166	3.679857	0.999824765289991	0.43622	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	4.65	3.74	0.42108	2.994000	0.49121	4.923000	0.46060	0.599000	0.40250	0.992000	0.37556	1.000000	0.68203	0.997000	0.79791	0.0:0.9047:0.0:0.0953	10.515	0.44070	517	0.74620	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2885.98	202	chr14	23534962	.	C	T	2885.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.08;DP=945;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.29;ReadPosRankSum=-2.566e+00;SOR=0.692	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1110	20	0	1	0
chr14	23559828	23559828	C	T	exonic	AP1G2	.	nonsynonymous SNV	AP1G2:NM_001354675:exon19:c.G1136A:p.R379H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.97	D	0.000	D	1.000	D	2.775	M	0.72	T	-0.725	T	0.057	T	0.637	4.484	24.0	5.04	1.506	1.613	13.184	0.362	.	0.0005	0.0111821	0.0075	9.796e-05	0.0002	0.0517	0.0369	0.0028	0.0113	0.0012	0.0064747	1001	154602	rs74849041	0.0032	0.0032	0.0033	0.0032	0.0519	0.0031	0.0031	0.0500	0.0493	2.987e-05	4.472e-05	0.0023	0.0519	0.0343	0.0009	0.0003	0.0039	0.0016	0.0050	0.0050	0.0033	0.0069	0.0552	0.0047	0.0046	0.0500	0.0479	2.407e-05	0	0.0003	0.0040	0.0552	0.0369	0	0.0007	0.0033	0.0035	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.945	0.68163	D	0.000000	0.84330	D	0.000000	0.999434	0.81001	D	3.165	0.88605	M	0.72	0.50976	T	-3.56	0.68880	D	0.444	0.48411	-0.7248	0.59224	T	0.057	0.23866	T	10	0.012876421	0.00275	T	.	.	.	0.362	0.68230	.	.	0.396044805602	0.39223	0.6023810311381542	0.60169	0.185147739358	0.20815	0.370988547802	0.20974	T	0.485867	0.81259	T	-0.288247	0.09813	T	-0.145843	0.59609	T	0.0875436066255725	0.10923	T	0.845215	0.52386	T	0.8003318	0.83926	0.684596	0.81456	0.8003318	0.83928	0.684596	0.81457	-10.379	0.76149	D	.	.	0.177	0.38640	B	.;.	.;.	4.762872	0.77023	26.6	0.9995605048267151	0.99975	0.59363	0.30895	D	AEFDBHCI	0.272572	0.38818	N	0.650681087010033	0.76415	6.481859	0.59938112490599	0.74895	6.215647	0.99999998584646	0.74766	0.722319	0.85440	0	0.697927	0.68747	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	5.93	5.04	0.67293	1.446000	0.34701	4.021000	0.41251	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8402:0.1598:0.0	13.184	0.59093	516	0.74704	Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain|Gamma-adaptin ear (GAE) domain|Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain;Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain|Gamma-adaptin ear (GAE) domain|Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain	.	.	.	.	rs74849041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1115.98	35	chr14	23559828	.	C	T	1115.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.410e-01;DP=819;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.00;ReadPosRankSum=-2.640e-01;SOR=0.700	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1203	20	0	1	0
chr14	23990202	23990202	G	A	exonic	DHRS4;DHRS4L2	.	nonsynonymous SNV	DHRS4:NM_001282989:exon2:c.G149A:p.R50Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.369	B	0.074	B	0.038	N	1.000	D	1.305	L	-2.53	D	-0.533	T	0.441	T	0.419	-0.291	2.612	1.43	0.539	1.770	8.065	0.343	0.0852160012878	0.0007	0.000599042	0.0005	0.0009	0.0003	0	0	0.0008	0.0011	0	0.0005498	85	154602	rs145901014	0.0007	0.0007	0.0007	0.0007	0.0009	0.0007	0.0006	0.0008	0.0008	0.0007	0.0002	3.831e-05	0	0	0.0003	0.0009	0.0006	1.161e-05	0.0006	0.0006	0.0006	0.0006	0.0007	0.0005	0.0004	0.0006	0.0005	0.0007	0	0.0003	0	0	0	0	0.0007	0	0	0.424	0.17761	T	0.303	0.20164	T	0.369	0.34063	B	0.074	0.28220	B	0.037968	0.24339	N	0.441828	1	0.81001	D	.	.	.	-2.53	0.89430	D	-2.04	0.46842	N	0.323	0.40963	-0.5332	0.67420	T	0.441	0.77884	T	10	0.04656431	0.03863	T	0.085216	0.74488	D	0.343	0.66488	.	.	0.819678790864	0.81798	0.4541356248040898	0.45331	0.0417195816049	0.04484	.	.	.	0.023016	0.69360	T	-0.264243	0.12407	T	-0.176971	0.56802	T	0.00795630018498107	0.00094	T	0.819518	0.52533	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.24329	B	.;.;.;.;.;.	.;.;.;.;.;.	1.974917	0.25085	16.64	0.93834530548849349	0.23824	0.56325	0.30088	D	AEFDBIJ	0.119235	0.23280	N	-0.766411915793869	0.14191	0.7049539	-0.732420304742687	0.16155	0.8532807	0.999747814779314	0.42466	0.706298	0.61202	0	0.685571	0.66316	0	0.709663	0.75317	0	0.550183	0.17644	0	.	.	3.36	1.43	0.21585	1.689000	0.37319	2.113000	0.30672	-0.215000	0.08222	0.969000	0.34210	0.295000	0.24188	0.004000	0.06068	0.2357:0.0:0.7643:0.0	8.065	0.29818	749	0.51929	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3514.98	36	chr14	23990202	.	G	A	3514.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.47;DP=973;ExcessHet=0.0000;FS=6.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.84;MQRankSum=0.708;QD=13.21;ReadPosRankSum=-6.100e-01;SOR=0.753	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1339	20	0	1	0
chr14	24053718	24053718	G	A	exonic	CARMIL3	.	nonsynonymous SNV	CARMIL3:NM_138360:exon2:c.G50A:p.R17Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.997	D	0.953	D	0.000	D	1.000	D	1.39	L	2.28	T	-1.163	T	0.082	T	0.531	3.472	17.77	5.22	2.598	6.149	14.635	0.160	0.0179813725352	7.7e-05	.	4.293e-05	0	0	0.0001	0	6.149e-05	0	0	7.12e-05	11	154602	rs142457655	4.112e-05	4.173e-05	4.5e-05	3.721e-05	0.0002	3.251e-05	2.925e-05	3.722e-05	3.376e-05	0	0	0	2.52e-05	0	0.0002	4.773e-05	6.638e-05	1.166e-05	4.599e-05	4.597e-05	3.854e-05	5.38e-05	2.94e-05	2.109e-05	1.527e-05	4.88e-06	1.83e-06	0	0.0055	0	0	0	0	0	2.94e-05	0	0	0.025	0.47320	D	0.189	0.28575	T	0.997	0.70673	D	0.953	0.69275	D	0.000031	0.55875	D	0.000000	0.999801	0.81001	D	.	.	.	2.28	0.17271	T	-1.15	0.29525	N	0.504	0.53620	-1.1626	0.00696	T	0.082	0.32178	T	10	0.15463892	0.29165	T	0.017981	0.39885	T	0.160	0.41473	.	.	0.530705155676	0.52718	0.5804027355554036	0.57969	0.928116927593	0.71713	0.655439317226	0.60758	T	0.031347	0.22002	T	-0.177653	0.24087	T	-0.362511	0.37763	T	0.835323095321655	0.48950	D	.	.	.	0.19414236	0.41152	0.15108217	0.35605	0.19414236	0.41152	0.15108217	0.35604	-4.069	0.24831	T	.	.	0.105	0.19194	B	.	.	4.514927	0.70739	25.6	0.99879886145130226	0.95653	0.91967	0.54652	D	AEFDBCI	0.651114	0.62498	D	0.61582403102475	0.74174	6.088205	0.622993256421309	0.76612	6.523466	0.999999999956071	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.22	5.22	0.72285	6.206000	0.72085	11.748000	0.95342	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	14.635	0.68284	799	0.44747	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1894.98	39	chr14	24053718	.	G	A	1894.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=914;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.44;ReadPosRankSum=-4.910e-01;SOR=0.639	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr14	24057240	24057240	A	G	exonic	CARMIL3	.	nonsynonymous SNV	CARMIL3:NM_138360:exon14:c.A1136G:p.D379G,	.	.	426	1087	9	0	0	9	0.00412277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.993	D	0.977	D	0.000	D	1.000	D	1.28	L	0.83	T	-0.816	T	0.153	T	0.873	2.082	12.92	4.98	2.092	2.556	10.974	0.346	0.0341981606927	0.0065	0.00319489	0.0063	0.0015	0.0045	0	0.0012	0.0093	0.0083	0.0039	0.0012354	191	154602	rs45508393	0.0077	0.0077	0.0077	0.0077	0.0088	0.0076	0.0076	0.0087	0.0086	0.0022	0.0051	0.0102	0	0.0021	0.0066	0.0088	0.0072	0.0039	0.0056	0.0057	0.0059	0.0053	0.0088	0.0053	0.0052	0.0079	0.0077	0.0018	0	0.0088	0.0078	0	0.0015	0.0102	0.0085	0.0076	0.0029	0.024	0.47745	D	0.031	0.53788	D	0.993	0.65571	D	0.977	0.73820	D	0.000009	0.62929	D	0.063724	1	0.81001	D	.	.	.	0.83	0.47815	T	-4.07	0.74661	D	0.691	0.69649	-0.8159	0.54189	T	0.153	0.48291	T	10	0.009319514	0.00210	T	0.034198	0.55511	D	0.346	0.66769	.	.	0.584243892073	0.58097	0.7158375269116998	0.71526	0.972712254251	0.73431	0.490209281445	0.37467	T	0.215959	0.57798	T	-0.124619	0.32371	T	0.0576115	0.74085	D	0.0296919420277005	0.01942	T	.	.	.	0.2940941	0.52370	0.22869088	0.47918	0.2940941	0.52370	0.22869088	0.47917	-9.351	0.69927	D	.	.	0.616	0.69530	P	.	.	3.297448	0.45254	22.1	0.98456250540598444	0.41688	0.92806	0.56591	D	AEFBI	0.558630	0.56777	D	0.270846661279918	0.54676	3.632732	0.199700012435922	0.49832	3.181711	0.999999917331568	0.74766	0.713056	0.82018	0	0.610034	0.51514	0	0.608524	0.38960	0	0.542086	0.14980	0	.	.	4.98	4.98	0.65679	7.588000	0.81905	11.202000	0.89070	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	1.0:0.0:0.0:0.0	10.974	0.46670	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	994.98	36	chr14	24057240	.	A	G	994.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=964;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=0.810;SOR=0.661	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	20	0	1	0
chr14	24097052	24097052	G	A	exonic	PCK2	.	nonsynonymous SNV	PCK2:NM_001018073:exon2:c.G190A:p.D64N	PEPCK deficiency, mitochondrial, Autosomal recessive	.	0	1518	4	0	0	4	0.00131579	.	.	550003	PCK2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.05	D	0.159	B	0.203	B	0.000	N	1.000	D	2.245	M	2.57	T	-1.132	T	0.026	T	0.048	3.780	19.19	3.7	0.812	6.344	10.423	0.152	.	0.0058	0.00658946	0.0018	0.0178	0.0011	0	0	0.0002	0	0.0001	0.0017594	272	154602	rs10132601	0.0006	0.0006	0.0007	0.0006	0.0187	0.0006	0.0006	0.0175	0.0170	0.0187	0.0011	0	0	3.745e-05	0.0045	0.0001	0.0017	9.275e-05	0.0050	0.0051	0.0056	0.0045	0.0173	0.0047	0.0046	0.0162	0.0158	0.0173	0	0.0018	0	0	9.464e-05	0.0136	0.0001	0.0047	0	0.05	0.40832	D	0.032	0.53426	D	0.159	0.28304	B	0.203	0.37000	B	0.000016	0.62929	N	0.151424	1	0.81001	D	2.66	0.77858	M	2.57	0.13552	T	-2.58	0.60188	D	0.358	0.40665	-1.1316	0.01707	T	0.026	0.11176	T	10	0.011896849	0.00258	T	.	.	.	0.152	0.39956	.	.	0.387689773709	0.38380	0.8162389029905812	0.81579	0.0594577164127	0.06608	0.569153487682	0.48558	T	0.010581	0.51232	T	-0.599105	0.00148	T	-0.618413	0.11309	T	0.088638744409447	0.11055	T	.	.	.	0.16078733	0.36043	0.28085598	0.54063	0.14253193	0.32796	0.2322279	0.48376	-9.647	0.74586	D	.	.	0.103	0.18331	B	.;.;.	.;.;.	3.396670	0.47056	22.4	0.99636177358624989	0.76387	0.94546	0.61516	D	AEFBHCI	0.906408	0.85914	D	-0.0438646951985743	0.39877	2.358832	0.0644143350021404	0.42774	2.593154	0.9999999870033	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.696144	0.63334	0	0.683762	0.67416	0	.	.	5.52	3.7	0.41607	6.508000	0.73632	6.602000	0.56060	-0.117000	0.14459	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.1606:0.0:0.8394:0.0	10.423	0.43546	883	0.28872	Phosphoenolpyruvate carboxykinase, GTP-utilising, N-terminal;Phosphoenolpyruvate carboxykinase, GTP-utilising, N-terminal;Phosphoenolpyruvate carboxykinase, GTP-utilising, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	769.98	34	chr14	24097052	.	G	A	769.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=802;ExcessHet=0.0000;FS=2.625;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.20;ReadPosRankSum=0.751;SOR=1.022	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1222	20	0	1	0
chr14	24123015	24123015	C	A	exonic	DCAF11	.	nonsynonymous SNV	DCAF11:NM_001163484:exon14:c.C1444A:p.H482N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.99	D	0.000	D	1.000	D	3.745	H	-1.45	T	0.784	D	0.775	D	0.704	4.635	25.4	5.33	2.778	6.737	16.560	0.809	0.193495999084	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297015208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.572e-06	6.568e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.006	0.72224	D	0.99	0.73220	D	0.921	0.68788	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.525	0.99052	H	-1.45	0.80899	T	-6.33	0.91609	D	0.86	0.85660	0.784	0.94219	D	0.775	0.92353	D	10	0.9579358	0.95171	D	0.193496	0.86307	D	0.809	0.93816	0.824	0.93592	0.85649186809	0.85511	0.6594570802713323	0.65882	2.9596807467	0.99163	0.669818639755	0.62812	T	0.160838	0.50484	T	0.250944	0.78689	D	0.122687	0.78412	D	0.99898761510849	0.95793	D	.	.	.	0.86711246	0.88634	0.80800146	0.88773	0.86711246	0.88636	0.80800146	0.88774	-17.455	0.99244	D	.	.	0.970	0.91596	P	.;.;.;.;.	.;.;.;.;.	4.972758	0.82304	27.8	0.99199157102063118	0.55231	0.94268	0.60628	D	AEFBHCI	0.895752	0.83610	D	0.97865948886177	0.95050	13.265	0.90064286568061	0.95601	13.779	0.999999999999992	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.33	5.33	0.75683	6.723000	0.74552	7.594000	0.61341	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	16.560	0.84401	895	0.25842	WD40-repeat-containing domain;WD40-repeat-containing domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2119.98	34	chr14	24123015	.	C	A	2119.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.630e-01;DP=867;ExcessHet=0.0000;FS=2.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=0.394;SOR=0.941	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1257	20	0	1	0
chr14	24131619	24131619	C	T	exonic	FITM1	.	nonsynonymous SNV	FITM1:NM_203402:exon1:c.C56T:p.A19V,	.	.	422	1099	1	0	0	1	0.000454752	.	.	2245105	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.41	T	0.0	B	0.0	B	0.006	N	0.986	N	-0.345	N	.	.	-1.028	T	0.032	T	0.118	0.754	7.996	1.58	0.567	0.514	5.667	0.014	0.00673539445237	0.0005	.	0.0006	0.0001	0.0003	0	0.0002	0.0011	0	0	0.0004851	75	154602	rs147792464	0.0006	0.0006	0.0006	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	5.98e-05	0.0002	0.0013	0	0.0002	0.0002	0.0007	0.0004	1.164e-05	0.0005	0.0005	0.0005	0.0005	0.0008	0.0004	0.0004	0.0006	0.0006	2.405e-05	0	0.0006	0.0020	0	0.0002	0	0.0008	0.0005	0	0.199	0.20456	T	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	0.005818	0.32491	N	0.188323	0.999956	0.19072	N	0	0.06538	N	.	.	.	-1.01	0.26639	N	0.115	0.10340	-1.0281	0.21070	T	0.032	0.13592	T	9	0.01075986	0.00238	T	0.006735	0.17784	T	0.014	0.01968	.	.	0.21737058555	0.21362	0.3138563487760153	0.31298	0.17335062885	0.19523	0.549640476704	0.45807	T	0.042884	0.26325	T	-0.529514	0.00386	T	-0.599507	0.12854	T	0.0142392466213956	0.00282	T	.	.	.	0.042839747	0.06570	0.05932397	0.11114	0.042839747	0.06570	0.05932397	0.11114	-4.045	0.24474	T	.	.	0.100	0.17103	B	.	.	1.349498	0.17571	13.24	0.97048563991409087	0.32142	0.04506	0.10129	N	AEFDBIJ	0.081451	0.16482	N	-1.05158970944229	0.07556	0.3514244	-0.936031701716159	0.11248	0.5718694	0.999957931421497	0.48110	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.6	1.58	0.22557	0.492000	0.22144	1.053000	0.23654	-0.177000	0.10537	0.082000	0.22389	0.531000	0.25362	0.744000	0.35576	0.0:0.6485:0.0:0.3515	5.667	0.16975	893	0.26510	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	917.98	34	chr14	24131619	.	C	T	917.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.518e+00;DP=757;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.34;ReadPosRankSum=-5.920e-01;SOR=0.651	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1272	20	0	1	0
chr14	24143672	24143672	C	A	splicing	PSME2	NM_002818:exon10:c.553-1G>T	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.95	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.531	18.02	4.84	2.680	5.801	13.618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43696	0.91876	D	0.389887	0.91775	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.133274	0.61874	24.4	0.99471592993268099	0.66365	0.98068	0.79327	D	AEFDBIJ	.	.	.	1.08724664359533	0.97891	16.97304	0.920777600714814	0.96416	14.67008	0.999999999967731	0.74766	0.163922	0.03765	0	0.177374	0.04040	0	0.231597	0.04857	0	0.117559	0.03655	0	0.985519	0.93241	4.84	4.84	0.62125	5.776000	0.68576	7.691000	0.65788	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:1.0:0.0:0.0	13.618	0.61590	892	0.26670	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1945.98	36	chr14	24143672	.	C	A	1945.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.330e-01;DP=867;ExcessHet=0.0000;FS=1.205;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.99;MQRankSum=0.988;QD=11.58;ReadPosRankSum=-1.565e+00;SOR=0.659	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr14	24151499	24151499	G	T	exonic	RNF31	.	nonsynonymous SNV	RNF31:NM_001310332:exon10:c.G1299T:p.Q433H	.	.	426	1095	1	0	0	1	0.000456413	.	.	1080420	RNF31-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.547	P	0.086	B	0.651	N	1.000	N	0	N	0.97	T	-1.048	T	0.051	T	0.196	-0.879	0.482	3.57	0.815	1.641	5.815	0.039	0.00546132068073	0.0010	0.00139776	0.0011	0.0005	0.0020	0	0.0014	0.0014	0.0011	0.0005	0.0011384	176	154602	rs184184005	0.0010	0.0010	0.0009	0.0010	0.0031	0.0009	0.0009	0.0027	0.0025	0.0004	0.0031	0.0013	0	0.0009	0.0014	0.0009	0.0010	0.0007	0.0014	0.0014	0.0014	0.0013	0.0043	0.0012	0.0011	0.0035	0.0032	0.0003	0	0.0043	0.0006	0	0.0007	0.0034	0.0016	0.0009	0.0008	0.251	0.17069	T	0.231	0.25061	T	0.547	0.38060	P	0.086	0.29521	B	0.651490	0.05926	N	1.167800	1	0.08975	N	-0.255	0.03828	N	0.97	0.42502	T	-0.9	0.24244	N	0.166	0.17553	-1.0478	0.15016	T	0.051	0.21689	T	10	0.005431026	0.00120	T	0.005461	0.14045	T	0.039	0.10176	0.272	0.22210	0.413703809202	0.40986	0.13764304558766002	0.13688	0.260701197531	0.28632	0.292051553726	0.09221	T	0.085033	0.37411	T	-0.549862	0.00292	T	-0.566918	0.15732	T	0.000835083746419487	0.00008	T	.	.	.	0.062491223	0.13058	0.044390026	0.05739	0.06331506	0.13318	0.051586643	0.08332	-6.654	0.51463	T	.	.	0.150	0.33133	B	.;.	.;.	1.322980	0.17275	13.06	0.70986381328551862	0.09477	0.14855	0.18620	N	AEFBHI	0.103656	0.20761	N	-0.579182752311747	0.19578	1.025744	-0.486492693095008	0.22524	1.223868	0.999967378799074	0.48965	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.42	3.57	0.40014	1.058000	0.30114	3.466000	0.38548	0.676000	0.76740	0.014000	0.18986	0.991000	0.31484	0.516000	0.29383	0.162:0.3053:0.5327:0.0	5.815	0.17752	894	0.26265	.;E3 ubiquitin-protein ligase RNF31, UBA-like domain|Ubiquitin-associated domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2634.98	38	chr14	24151499	.	G	T	2634.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.280e-01;DP=923;ExcessHet=0.0000;FS=2.374;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=-1.296e+00;SOR=0.543	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1345	20	0	1	0
chr14	24211446	24211446	C	T	exonic	CHMP4A	.	nonsynonymous SNV	CHMP4A:NM_014169:exon3:c.G328A:p.A110T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.999	D	0.99	D	0.036	N	1.000	D	2.3	M	-0.66	T	-0.480	T	0.323	T	0.423	4.781	26.9	3.7	1.163	5.447	10.338	0.207	0.0156446769504	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455433984	6.854e-07	1.368e-06	0	1.379e-06	9.012e-07	0	0	.	.	0	0	0	0	0	0	9.012e-07	0	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.039	0.42783	D	0.007	0.76473	D	0.999	0.77913	D	0.99	0.78936	D	0.036459	0.24520	N	0.290138	0.985021	0.40226	D	2	0.54354	M	-0.66	0.72348	T	-0.03	0.66549	N	0.567	0.59053	-0.4804	0.69352	T	0.323	0.69221	T	10	0.6363141	0.68802	D	0.015645	0.36500	T	0.499	0.78288	0.709	0.84509	0.551261960702	0.54783	.	.	0.0804777048085	0.09054	0.470874667168	0.34801	T	0.48722	0.81337	T	0.0339066	0.56243	T	-0.189072	0.55677	T	0.768654205446276	0.44358	D	.	.	.	0.12418626	0.29144	0.45296592	0.68182	0.12418626	0.29144	0.45296592	0.68182	-5.314	0.40081	T	.	.	0.179	0.39081	B	.;.;.;.;.	.;.;.;.;.	4.101809	0.61165	24.3	0.99926661056033572	0.99103	0.86707	0.46045	D	AEFDBHCI	0.694693	0.65361	D	0.294177038330491	0.55852	3.749426	0.305739495709424	0.55877	3.750494	0.999999998077919	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.59	3.7	0.41607	6.017000	0.70457	1.216000	0.24942	0.599000	0.40250	1.000000	0.71638	0.961000	0.29326	0.996000	0.76049	0.0:0.9033:0.0:0.0967	10.338	0.43044	895	0.25842	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	533.98	34	chr14	24211446	.	C	T	533.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.010;DP=763;ExcessHet=0.0000;FS=1.039;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.71;ReadPosRankSum=1.32;SOR=0.871	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr14	24215571	24215571	G	A	exonic	MDP1;NEDD8-MDP1	.	nonsynonymous SNV	MDP1:NM_001199821:exon3:c.C190T:p.P64S	.	.	427	1093	2	0	0	2	0.000914077	.	.	3285272	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.73	T	0.181	B	0.054	B	.	.	0.999	N	0.48	N	-4.42	D	-0.141	T	0.735	D	0.197	2.378	13.91	4.06	2.489	2.459	12.614	0.273	0.0708424413019	0.0005	.	0.0006	0	0.0002	0	0	0.0010	0.0011	0.0002	0.0005239	81	154602	rs140361770	0.0005	0.0005	0.0005	0.0005	0.0017	0.0005	0.0005	0.0009	0.0007	5.974e-05	0.0004	0.0051	0	7.488e-05	0.0017	0.0005	0.0005	0.0002	0.0005	0.0005	0.0005	0.0005	0.0007	0.0004	0.0003	0.0005	0.0005	0	0	0.0005	0.0032	0	0	0	0.0007	0.0019	0.0002	0.585	0.14645	T	0.607	0.16766	T	0.008	0.29111	B	0.005	0.25828	B	.	.	.	.	0.998799	0.21902	N	1.385	0.34509	L	-4.42	0.97469	D	-0.02	0.22944	N	0.247	0.33469	-0.1408	0.79145	T	0.735	0.90944	D	9	0.00993216	0.00223	T	0.070842	0.71111	D	0.273	0.58883	.	.	0.825461045849	0.82381	0.19497705373840482	0.19415	0.134997171501	0.15216	.	.	.	0.041116	0.25751	T	-0.194192	0.21644	T	-0.132246	0.60783	T	0.072941832387389	0.09058	T	.	.	.	0.102389894	0.24195	0.14822459	0.35045	0.102389894	0.24194	0.14822459	0.35045	-6.377	0.49330	T	.	.	0.134	0.32589	B	.;.;.	.;.;.	3.065666	0.41183	21.3	0.9890671661385404	0.48290	0.22111	0.21635	N	ALL	0.306879	0.41390	N	-0.423740057910024	0.24639	1.331832	-0.272879977692916	0.28995	1.621016	0.99999999540912	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.01	4.06	0.46572	2.490000	0.44953	7.091000	0.57505	0.676000	0.76740	0.672000	0.28366	1.000000	0.68203	0.348000	0.25613	0.0:0.0:0.8353:0.1647	12.614	0.55923	894	0.26265	HAD-superfamily phosphatase, subfamily IIIC;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1283.98	33	chr14	24215571	.	G	A	1283.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.712;DP=823;ExcessHet=0.0000;FS=2.656;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.47;ReadPosRankSum=0.625;SOR=1.002	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1188	20	0	1	0
chr14	24300437	24300437	G	C	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_001286367:exon2:c.G277C:p.V93L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.008	B	0.009	B	0.000	D	0.996	D	0.97	L	2.67	T	-1.062	T	0.026	T	0.315	2.700	14.99	4.09	2.615	3.447	14.766	0.054	0.00576105487957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0050	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	0.0002	2.243e-05	0.0001	0	0	0.0002	0.0004	0.0003	7.042e-05	1.319e-05	5.919e-05	1.29e-05	1.35e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.474e-05	0	0.0002	0.197	0.23183	T	0.214	0.26386	T	0.008	0.14655	B	0.009	0.14300	B	0.000069	0.52346	D	0.072968	0.996321	0.43140	D	2.585	0.75554	M	2.67	0.12473	T	-0.93	0.24898	N	0.223	0.25006	-1.0617	0.11336	T	0.026	0.11220	T	10	0.2473082	0.42010	T	0.005761	0.14952	T	0.054	0.15330	0.682	0.81982	0.280181792013	0.27631	0.43155452972977676	0.43072	0.241845707043	0.26701	0.518697142601	0.41442	T	0.026513	0.19606	T	-0.1628	0.26331	T	-0.471627	0.25341	T	0.867119252681732	0.51714	D	.	.	.	0.2700367	0.50075	0.25238276	0.50866	0.2700367	0.50075	0.25238276	0.50865	-4.398	0.29530	T	.	.	0.406	0.62127	A	.;.	.;.	3.392337	0.46977	22.4	0.98957409412611974	0.49266	0.70411	0.34579	D	AEFDGBHCI	0.404589	0.47781	N	-0.158710929101413	0.34866	1.995547	0.0346132377272474	0.41334	2.481569	0.99999908900984	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	5.05	4.09	0.47038	3.594000	0.53755	8.281000	0.76903	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8459:0.1541	14.766	0.69261	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3667	974.79	119	chr14	24300437	.	G	C	974.79	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-4.960e+00;DP=2462;ExcessHet=7.7275;FS=350.718;InbreedingCoeff=-0.4950;MLEAC=13;MLEAF=0.433;MQ=60.00;MQRankSum=0.00;QD=0.64;ReadPosRankSum=1.16;SOR=10.936	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:71,0:71:0:.:.:0,0,1954	4	0	11	6
chr14	24304203	24304203	C	T	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_174913:exon8:c.C1573T:p.H525Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.999	D	0.996	D	0.000	D	1.000	D	2.025	M	2.98	T	-1.082	T	0.069	T	0.907	4.137	21.4	5.34	2.776	4.391	17.977	0.297	0.0104478006467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.25154	T	0.0	0.92824	D	0.999	0.77913	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.17	0.60663	M	2.98	0.09356	T	-2.95	0.61580	D	0.795	0.79118	-1.0818	0.07003	T	0.069	0.28080	T	10	0.85942125	0.85154	D	0.010448	0.27001	T	0.297	0.61730	0.631	0.76699	0.507152531357	0.50353	0.6347662627172405	0.63410	0.878080247472	0.69652	0.658800363541	0.61237	T	0.216343	0.57848	T	0.152509	0.69502	D	-0.0187073	0.69113	D	0.969996154308319	0.68789	D	.	.	.	0.24089125	0.46998	0.25929606	0.51675	0.24089125	0.46998	0.25929606	0.51674	-8.598	0.65076	D	.	.	0.278	0.51112	B	.	.	4.193318	0.63219	24.6	0.99733181118509961	0.82904	0.94388	0.61006	D	AEFBI	0.663079	0.63272	D	0.486770214352674	0.66317	4.934497	0.484159207621998	0.66939	5.017885	0.999999987155725	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.34	5.34	0.75982	3.240000	0.51066	4.822000	0.45127	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.193000	0.21690	0.0:1.0:0.0:0.0	17.977	0.89051	867	0.32089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2028.98	34	chr14	24304203	.	C	T	2028.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.036e+00;DP=898;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.98;ReadPosRankSum=-1.197e+00;SOR=0.690	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,120,1800	20	0	1	0
chr14	24306373	24306373	C	T	splicing	CIDEB	NM_014430:exon5:c.336+1G>A;NM_001318807:exon6:c.336+1G>A	.	.	.	.	423	1083	15	1	0	17	0.00778745	1.0000	0.932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.173	16.62	5.03	2.621	2.669	17.286	.	.	0.0004	0.00119808	0.0007	0	0.0010	0	0	0.0007	0.0011	0.0016	0.000705	109	154602	rs146737422	0.0005	0.0005	0.0004	0.0005	0.0088	0.0004	0.0004	0.0069	0.0062	0.0001	0.0011	3.826e-05	0	5.616e-05	0.0088	0.0003	0.0007	0.0016	0.0006	0.0006	0.0006	0.0006	0.0027	0.0005	0.0005	0.0016	0.0013	0.0001	0	0.0016	0	0	9.413e-05	0.0034	0.0006	0.0028	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0242678	0.48243	T	0.167737	0.81274	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.239424	0.87955	29.4	0.99074824237317693	0.51810	0.95398	0.64564	D	AEFDGBCI	.	.	.	0.895515431003367	0.91537	10.93455	0.69412066821763	0.81933	7.644	0.99999999999964	0.74766	0.295142	0.05270	0	0.278934	0.05175	0	0.343423	0.05949	0	0.322829	0.05601	0	0.971825	0.74108	5.03	5.03	0.67015	5.327000	0.65659	7.426000	0.58753	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.033000	0.13494	0.0:1.0:0.0:0.0	17.286	0.87029	867	0.32089	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1500.98	36	chr14	24306373	.	C	T	1500.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.964;DP=830;ExcessHet=0.0000;FS=1.636;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.43;ReadPosRankSum=-2.670e-01;SOR=0.537	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr14	24336256	24336256	-	G	exonic	RIPK3	.	frameshift insertion	RIPK3:NM_006871:exon10:c.1475dupC:p.P493Tfs*9,	.	.	420	1078	22	2	0	26	0.0119157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.00239617	0.0025	0.0009	0.0032	0	0.0009	0.0034	0.0033	0.0013	0.0008452	22	26028	rs531266348	0.0037	0.0037	0.0038	0.0036	0.0071	0.0036	0.0036	0.0054	0.0048	0.0011	0.0032	0.0041	0	0.0007	0.0071	0.0042	0.0043	0.0011	0.0031	0.0031	0.0033	0.0028	0.0062	0.0028	0.0027	0.0052	0.0048	0.0011	0.0044	0.0062	0.0026	0	0.0007	0.0102	0.0042	0.0047	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2039.94	34	chr14	24336256	.	T	TG	2039.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.829;DP=831;ExcessHet=0.0000;FS=0.652;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.34;ReadPosRankSum=2.28;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1203	20	0	1	0
chr14	24369886	24369886	G	C	exonic	NFATC4	.	nonsynonymous SNV	NFATC4:NM_001198965:exon2:c.G488C:p.G163A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.106	B	0.028	B	0.035	N	1.000	D	1.1	L	2.5	T	-1.041	T	0.023	T	0.312	-1.016	0.238	2.88	0.764	6.002	5.059	0.065	0.00303407710471	.	.	9.562e-06	0	0	0	0	1.718e-05	0	0	6.5e-06	1	154602	rs767549810	6.169e-06	6.156e-06	6.818e-06	5.512e-06	8.1e-06	2.9e-06	2.1e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.1e-06	0	0	1.314e-05	1.313e-05	2.57e-05	0	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.013	0.54683	D	0.0	0.92824	D	0.003	0.26037	B	0.005	0.21332	B	0.035258	0.24668	N	0.240807	0.944955	0.26675	N	0	0.06538	N	2.5	0.14408	T	-0.25	0.23372	N	0.216	0.25377	-1.0414	0.16890	T	0.023	0.09968	T	10	0.12099093	0.22927	T	0.003034	0.06517	T	0.065	0.18881	0.266	0.21261	0.311889312631	0.30795	0.36967912360475663	0.36881	0.885137563501	0.69946	0.468043684959	0.34412	T	0.102108	0.40951	T	-0.193849	0.21696	T	-0.491047	0.23282	T	0.122010176189655	0.14625	T	.	.	.	0.034892127	0.04004	0.0360071	0.02962	0.034892127	0.04004	0.0360071	0.02962	-3.986	0.23594	T	.	.	0.086	0.12465	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.106313	0.26800	17.24	0.11940875477908797	0.00194	0.97080	0.72572	D	AEFDBI	0.620830	0.60574	D	-0.295005273804389	0.29339	1.626214	-0.198408606878406	0.31595	1.789541	0.999990827025107	0.74766	0.732398	0.92422	0	0.693144	0.66847	0	0.688494	0.62686	0	0.727631	0.95156	0	.	.	3.8	2.88	0.32617	4.719000	0.61629	4.953000	0.46294	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.1184:0.2185:0.6631:0.0	5.059	0.13885	850	0.35610	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	749.98	39	chr14	24369886	.	G	C	749.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=1103;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.00;ReadPosRankSum=0.891;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,111,1665	20	0	1	0
chr14	24373831	24373831	G	A	exonic	NFATC4	.	nonsynonymous SNV	NFATC4:NM_001198965:exon5:c.G1696A:p.V566I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.307	B	0.028	B	0.001	D	1.000	D	0.92	L	0.94	T	-1.096	T	0.060	T	0.15	1.941	12.45	2.21	0.298	-0.029	7.120	0.026	0.00444392335291	.	.	1.652e-05	0	0	0	0	3.007e-05	0	0	1.29e-05	2	154602	rs56375538	2.942e-05	2.941e-05	2.587e-05	3.3e-05	0.0003	2.217e-05	1.97e-05	6.092e-05	2.521e-05	5.974e-05	0	3.826e-05	0.0001	0	0.0003	2.428e-05	4.967e-05	4.637e-05	0.0001	0.0001	0.0001	9.416e-05	0.0004	6.511e-05	5.323e-05	0.0002	0.0002	0.0004	0	0	0	0	0	0	0	0	0	0.334	0.24955	T	0.27	0.36901	T	0.003	0.32716	B	0.0	0.21332	B	0.000517	0.43753	D	0.159057	0.546891	0.32100	D	0.57	0.15267	N	0.94	0.43672	T	0.41	0.04947	N	0.222	0.25377	-1.0962	0.04583	T	0.060	0.25018	T	10	0.04758826	0.04097	T	0.004444	0.10875	T	0.026	0.05648	0.473	0.54859	0.143184338766	0.13958	0.08713265386865678	0.08646	0.272749980587	0.29779	0.353072375059	0.18373	T	0.097009	0.39941	T	-0.489248	0.00656	T	-0.586514	0.13969	T	0.138334959745407	0.16130	T	.	.	.	0.021935273	0.00824	0.04277953	0.05172	0.021935273	0.00824	0.04277953	0.05172	-6.847	0.54854	T	.	.	0.072	0.05845	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.588845	0.20324	14.69	0.97627500123266886	0.35000	0.24505	0.22414	N	AEFDBI	0.209647	0.33561	N	-0.739938072121272	0.14908	0.7467052	-0.662292451241846	0.17907	0.95426	0.999777725293249	0.42865	0.706298	0.61202	0	0.693144	0.66847	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.99	2.21	0.27042	0.446000	0.21410	0.499000	0.18978	-0.127000	0.13314	0.341000	0.25683	0.757000	0.26594	0.983000	0.59808	0.3529:0.0:0.6471:0.0	7.120	0.24615	850	0.35610	.;.;.;.;.;.;.;.;.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2088.98	35	chr14	24373831	.	G	A	2088.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.721e+00;DP=861;ExcessHet=0.0000;FS=5.070;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.02;ReadPosRankSum=0.711;SOR=0.407	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1191	20	0	1	0
chr14	24414693	24414693	C	A	exonic	NYNRIN	.	nonsynonymous SNV	NYNRIN:NM_025081:exon9:c.C2944A:p.P982T,	.	.	415	1085	22	0	0	22	0.0100365	.	.	2810324	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.952	P	0.42	B	.	.	1.000	N	1.61	L	2.72	T	-1.068	T	0.038	T	0.158	2.872	15.57	3.66	1.136	0.230	9.964	0.105	0.0102701104823	0.0013	0.000998403	0.0012	0.0006	0.0022	0	0	0.0016	0.0011	0.0003	0.0010802	167	154602	rs181160538	0.0009	0.0009	0.0009	0.0010	0.0078	0.0009	0.0009	0.0060	0.0054	0.0009	0.0021	0.0106	0	1.874e-05	0.0078	0.0007	0.0022	0.0003	0.0012	0.0012	0.0012	0.0012	0.0036	0.0010	0.0010	0.0028	0.0026	0.0004	0	0.0036	0.0112	0	0	0.0306	0.0008	0.0033	0.0004	0.043	0.41364	D	0.004	0.74150	D	0.952	0.54136	P	0.42	0.45080	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	2.72	0.11947	T	-2.18	0.49187	N	0.103	0.08646	-1.0676	0.09948	T	0.038	0.16290	T	9	0.0054706335	0.00121	T	0.01027	0.26610	T	0.105	0.29889	.	.	0.241664281697	0.23763	0.5110794306933167	0.51029	0.226695250779	0.25215	0.28573769331	0.08304	T	0.033286	0.22852	T	-0.584824	0.00180	T	-0.61962	0.11214	T	0.0159022332931623	0.00375	T	0.465053	0.13602	T	0.039496146	0.05463	0.05341085	0.08989	0.039496146	0.05462	0.05341085	0.08989	-3.601	0.17871	T	.	.	0.078	0.06710	B	.	.	1.317899	0.17215	13.03	0.99028392147768396	0.50742	0.16373	0.19358	N	AEFBI	0.050674	0.08881	N	-0.512461320319969	0.21676	1.15211	-0.642215251805691	0.18413	0.9835417	0.97865038151807	0.29945	0.706548	0.73137	0	0.627178	0.54094	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.54	3.66	0.41111	0.795000	0.26632	0.199000	0.15831	-0.953000	0.02023	0.009000	0.18154	0.000000	0.08366	0.004000	0.06068	0.2025:0.7975:0.0:0.0	9.964	0.40885	814	0.42100	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	888.98	40	chr14	24414693	.	C	A	888.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.990e-01;DP=945;ExcessHet=0.0000;FS=6.951;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.66;ReadPosRankSum=-2.750e-01;SOR=0.985	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,120,1800	20	0	1	0
chr14	24428877	24428877	C	T	exonic	CBLN3	.	nonsynonymous SNV	CBLN3:NM_001039771:exon1:c.G178A:p.G60R,	.	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.997	D	0.787	P	0.004	N	1.000	D	0.895	L	-1.54	D	-0.403	T	0.419	T	0.452	3.020	16.08	4.81	2.682	1.679	10.982	0.253	0.0633693108647	.	.	1.557e-05	0	0	0	0	2.931e-05	0	0	6.5e-06	1	154602	rs200467816	3.169e-05	3.147e-05	2.877e-05	3.465e-05	0.0007	2.43e-05	2.173e-05	0.0002	0.0001	0	0	0	2.569e-05	1.916e-05	0.0007	3.522e-05	1.667e-05	0	1.973e-05	1.97e-05	1.286e-05	2.692e-05	4.413e-05	5.25e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.413e-05	0	0	0.36	0.11919	T	0.396	0.15206	T	0.997	0.70673	D	0.787	0.57594	P	0.003889	0.34365	N	0.137787	0.932892	0.81001	D	1.525	0.38595	L	-1.54	0.81640	D	0.59	0.02558	N	0.238	0.26837	-0.4034	0.71920	T	0.419	0.76503	T	10	0.2242814	0.39228	T	0.063369	0.68947	D	0.253	0.56294	0.302	0.27003	0.809211878882	0.80742	0.5105308339934019	0.50975	0.900146455549	0.70606	0.741972208023	0.73263	T	0.09243	0.39002	T	-0.0578769	0.43240	T	-0.231182	0.51659	T	0.538841664791107	0.34061	D	0.686731	0.29555	T	0.07848077	0.17874	0.10174087	0.24364	0.07848077	0.17874	0.10174087	0.24363	-3.722	0.19643	T	.	.	0.160	0.35310	B	.	.	4.108614	0.61322	24.3	0.99897598899995388	0.97048	0.28417	0.23548	N	AEFDBCI	0.173302	0.30038	N	0.0976273135980864	0.46350	2.876871	0.0685479436369291	0.42978	2.60917	0.999999365513323	0.74766	0.582742	0.33608	0	0.296712	0.05252	1	0.61531	0.40942	0	0.567892	0.33627	0	.	.	5.7	4.81	0.61401	0.393000	0.20543	4.780000	0.44829	0.599000	0.40250	0.000000	0.06391	1.000000	0.68203	0.619000	0.31870	0.0:0.9117:0.0:0.0883	10.982	0.46716	809	0.43032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	521.98	33	chr14	24428877	.	C	T	521.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.811;DP=743;ExcessHet=0.0000;FS=2.226;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.70;ReadPosRankSum=2.04;SOR=0.701	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1155	20	0	1	0
chr14	24507429	24507429	C	G	exonic	CMA1	.	nonsynonymous SNV	CMA1:NM_001836:exon2:c.G136C:p.G46R,	.	.	424	1064	32	2	0	36	0.0166359	.	.	725649	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.96	D	0.54	P	0.727	N	1.000	N	0.965	L	0.22	T	-0.910	T	0.121	T	0.316	1.707	11.67	-1.23	-0.338	0.051	8.535	0.152	0.0772632775056	0.0043	0.00279553	0.0045	0.0010	0.0041	0	0.0085	0.0058	0.0077	0.0023	0.0043078	666	154602	rs5246	0.0041	0.0041	0.0040	0.0042	0.0160	0.0040	0.0040	0.0133	0.0123	0.0009	0.0031	0.0085	0	0.0106	0.0160	0.0040	0.0040	0.0032	0.0038	0.0039	0.0037	0.0040	0.0052	0.0036	0.0035	0.0048	0.0046	0.0009	0.0022	0.0024	0.0078	0	0.0087	0.0204	0.0052	0.0081	0.0023	0.022	0.48642	D	0.124	0.35455	T	0.96	0.55278	D	0.54	0.48825	P	0.727327	0.06349	N	1.155740	1	0.08975	N	1.62	0.41497	L	0.22	0.59851	T	-4.26	0.76174	D	0.279	0.31590	-0.9096	0.46904	T	0.121	0.42187	T	10	0.0063990355	0.00145	T	0.077263	0.72728	D	0.152	0.39956	.	.	0.747323469624	0.74504	0.6557552196420782	0.65511	0.0036760046655	0.00316	0.349411666393	0.17835	T	0.490062	0.81502	T	-0.461918	0.00956	T	-0.434509	0.29423	T	0.0694968769853934	0.08580	T	0.465653	0.13651	T	0.44510096	0.63730	0.2611371	0.51887	0.44510096	0.63730	0.2611371	0.51886	-6.875	0.53114	T	.	.	0.269	0.50306	B	.	.	1.191773	0.15830	12.13	0.94053190833927425	0.24183	0.04018	0.09450	N	AEFBI	0.056840	0.10539	N	-0.545693039121945	0.20618	1.088279	-0.739930919868381	0.15970	0.8425658	0.00271298208751002	0.09654	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.9	-1.23	0.08977	0.250000	0.18007	-0.238000	0.10617	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.4815:0.0:0.5185	8.535	0.32521	754	0.51307	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1081.98	33	chr14	24507429	.	C	G	1081.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.67;ReadPosRankSum=-2.210e-01;SOR=0.741	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1458	20	0	1	0
chr14	24631154	24631154	G	A	exonic	GZMB	.	stopgain	GZMB:NM_001346011:exon5:c.C625T:p.R209X	.	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	.	.	.	.	0.010	N	1.000	D	.	.	.	.	.	.	.	.	.	0.747	7.961	-10.3	-1.946	-7.710	9.600	.	.	7.7e-05	.	9.062e-05	0.0004	0	0	0	0.0001	0	0	7.12e-05	11	154602	rs369959551	2.193e-05	2.189e-05	2.728e-05	1.652e-05	0.0002	1.587e-05	1.358e-05	1.78e-05	1.385e-05	2.992e-05	6.711e-05	0	0	0	0.0002	2.343e-05	1.658e-05	0	5.255e-05	5.25e-05	6.425e-05	4.031e-05	0.0002	2.556e-05	1.83e-05	3.244e-05	1.911e-05	9.63e-05	0	0	0	0	0	0	2.941e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.009866	0.01256	N	3.353000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.738	0.73826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0172699	0.49240	T	0.0168516	0.71425	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;Tolerant	.;.;.;.;High	5.932316	0.94103	33	0.60416975988035726	0.06458	0.03182	0.08166	N	AEFHCI	0.076546	0.15401	N	-0.853678292100109	0.11960	0.5801518	-1.32281821123176	0.04137	0.1944822	0.999999146031717	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.15	-10.3	0.00281	-7.381000	0.00048	-20.000000	0.00162	-1.648000	0.00830	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1947:0.0:0.1243:0.681	9.600	0.38765	253	0.90069	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	677.98	36	chr14	24631154	.	G	A	677.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=815;ExcessHet=0.0000;FS=8.533;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.12;ReadPosRankSum=-3.730e-01;SOR=1.688	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr14	29927493	29927493	A	G	exonic	PRKD1	.	nonsynonymous SNV	PRKD1:NM_001330069:exon1:c.T20C:p.L7P	Congenital heart defects and ectodermal dysplasia, Autosomal dominant	.	401	1119	2	0	0	2	0.000892857	.	.	714101	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.072	B	0.018	B	0.397	U	0.998	D	0.69	N	-0.27	T	-0.974	T	0.154	T	0.326	3.882	19.73	1.5	0.162	2.888	7.499	0.083	.	.	0.00299521	.	.	.	.	.	.	.	.	0.0004334	67	154602	rs572057574	0.0088	0.0068	0.0090	0.0087	0.0098	0.0087	0.0086	0.0096	0.0096	0.0013	0.0072	0.0011	0	0.0018	0.0014	0.0098	0.0071	0.0009	0.0057	0.0057	0.0062	0.0052	0.0095	0.0054	0.0053	0.0089	0.0086	0.0016	0	0.0083	0.0015	0	0.0007	0	0.0095	0.0058	0	0.008	0.59928	D	0.101	0.38596	T	0.072	0.23997	B	0.018	0.18489	B	0.396750	0.13180	U	0.495864	0.998481	0.44980	D	0.205	0.09354	N	-0.27	0.67367	T	-0.34	0.12661	N	0.254	0.33578	-0.9736	0.36431	T	0.154	0.48395	T	10	0.005440235	0.00120	T	.	.	.	0.083	0.24192	.	.	0.73311368528	0.73073	0.5186790449170657	0.51790	0.56031135281	0.52562	0.905458211899	0.97023	D	0.21377	0.57518	T	-0.384045	0.02937	T	-0.314043	0.43222	T	0.134112943779498	0.15756	T	0.516748	0.16663	T	0.22486922	0.45137	0.36244598	0.61650	0.22486922	0.45137	0.36244598	0.61650	-1.974	0.03084	T	.	.	0.095	0.20663	B	.;.;.	.;.;.	2.969381	0.39573	21.0	0.96856753053056177	0.31365	0.47947	0.28097	N	AEFDBHCIJ	0.147009	0.27058	N	-0.489292202021359	0.22431	1.197694	-0.424094961264549	0.24292	1.329446	0.999968933408618	0.48965	0.437478	0.07067	0	0.475579	0.06741	0	0.606814	0.37721	0	0.56214	0.19341	0	.	.	2.71	1.5	0.22029	1.342000	0.33524	3.468000	0.38561	0.485000	0.22221	0.057000	0.21666	1.000000	0.68203	0.958000	0.51230	0.807:0.0:0.0:0.193	7.499	0.26678	932	0.16191	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	891.15	29	chr14	29927493	.	A	G	891.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=546;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0328;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=-1.089e+00;SOR=0.695	GT:AD:DP:GQ:PL	0/0:19,0:19:57:0,57,620	20	0	1	0
chr14	30605680	30605680	A	G	exonic	G2E3	.	nonsynonymous SNV	G2E3:NM_001308097:exon10:c.A1048G:p.I350V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.022	B	0.031	B	0.000	D	0.997	N	0	N	1.02	T	-1.011	T	0.066	T	0.111	2.133	13.09	5.66	2.284	0.955	14.769	0.073	0.00496107734432	.	0.000599042	0.0003	0	0.0002	0	0	0	0.0022	0.0021	0.0002652	41	154602	rs548151985	0.0001	0.0001	6.829e-05	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	0	2.243e-05	0	0	0	0	1.804e-06	0.0001	0.0022	4.596e-05	4.593e-05	6.424e-05	2.685e-05	0.0014	2.108e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	0.455	0.08865	T	1.0	0.01155	T	0.022	0.18677	B	0.031	0.21939	B	0.000093	0.51296	D	0.204204	0.996872	0.22872	N	0	0.06538	N	1.02	0.40749	T	0.18	0.05035	N	0.15	0.15749	-1.0112	0.26541	T	0.066	0.27295	T	10	0.009287387	0.00210	T	0.004961	0.12504	T	0.073	0.21317	0.39	0.41279	0.20808081866	0.20439	0.08060965911924925	0.07995	0.26868674241	0.29385	0.357084929943	0.18961	T	0.028577	0.20668	T	-0.57114	0.00218	T	-0.599347	0.12866	T	0.0610732779815142	0.07336	T	0.827917	0.49191	T	0.05275809	0.09887	0.05720629	0.10359	0.05275809	0.09886	0.05720629	0.10359	-3.421	0.15340	T	.	.	0.068	0.02733	B	.;.;.	.;.;.	1.311806	0.17150	12.99	0.98798090497686408	0.46413	0.76532	0.37542	D	AEFBI	0.174381	0.30151	N	-0.236590623106031	0.31642	1.776328	-0.0156268251218499	0.39009	2.306503	0.999890208304197	0.45129	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.66	5.66	0.87293	0.946000	0.28667	1.840000	0.29181	0.752000	0.88150	0.770000	0.29357	0.413000	0.24769	0.993000	0.69303	1.0:0.0:0.0:0.0	14.769	0.69287	915	0.20917	HECT domain;HECT domain;HECT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2069.98	36	chr14	30605680	.	A	G	2069.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.76;DP=842;ExcessHet=0.0000;FS=2.095;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.08;ReadPosRankSum=0.796;SOR=0.911	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1141	20	0	1	0
chr14	30616319	30616319	G	A	exonic	G2E3	.	nonsynonymous SNV	G2E3:NM_001308097:exon14:c.G1768A:p.A590T	.	.	438	1069	13	2	0	17	0.00788863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.013	B	0.042	B	0.000	N	0.997	D	1.83	L	0.4	T	-1.007	T	0.061	T	0.153	1.684	11.59	3.95	0.788	4.291	11.013	0.147	.	0.0078	0.00259585	0.0058	0.0025	0.0031	0	0.0119	0.0080	0.0056	0.0012	0.0060025	928	154602	rs45475495	0.0091	0.0092	0.0094	0.0089	0.0312	0.0090	0.0089	0.0274	0.0260	0.0018	0.0035	0.0080	2.526e-05	0.0096	0.0312	0.0104	0.0098	0.0010	0.0062	0.0062	0.0062	0.0062	0.0086	0.0059	0.0057	0.0080	0.0078	0.0022	0.0044	0.0040	0.0092	0	0.0134	0.0136	0.0086	0.0076	0.0015	0.099	0.31682	T	0.088	0.42261	T	0.013	0.16609	B	0.042	0.24114	B	0.000006	0.62929	N	0.142736	0.996539	0.43261	D	1.9	0.50570	L	0.4	0.57261	T	-1.04	0.29933	N	0.139	0.13769	-1.0069	0.27881	T	0.061	0.25346	T	10	0.010348141	0.00231	T	.	.	.	0.147	0.38986	.	.	0.257342827899	0.25358	0.58322532940521	0.58251	0.338127854564	0.35788	0.377340078354	0.21879	T	0.044106	0.26711	T	-0.454748	0.01059	T	-0.415602	0.31581	T	0.00629863204510947	0.00070	T	0.786621	0.42528	T	0.07010593	0.15415	0.13295096	0.31891	0.07010593	0.15415	0.13295096	0.31890	-6.67	0.51584	T	.	.	0.095	0.16626	B	.;.;.	.;.;.	2.530949	0.32720	19.13	0.9433137757105039	0.24664	0.95375	0.64475	D	AEFDGBI	0.524573	0.54770	D	-0.366460092448532	0.26672	1.457438	-0.266051408066251	0.29223	1.635626	0.99999995010899	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.78	3.95	0.44952	4.390000	0.59409	5.180000	0.47861	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0667:0.0:0.8034:0.1299	11.013	0.46886	959	0.08690	HECT domain|HECT domain|HECT domain;HECT domain|HECT domain|HECT domain;HECT domain|HECT domain|HECT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1707.98	33	chr14	30616319	.	G	A	1707.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.578e+00;DP=844;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=-1.422e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1179	20	0	1	0
chr14	30936527	30936527	C	T	exonic	STRN3	.	nonsynonymous SNV	STRN3:NM_001083893:exon6:c.G814A:p.G272R	.	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.029	B	0.009	B	0.001	D	1.000	D	0.6	N	2.37	T	-0.941	T	0.154	T	0.53	2.556	14.51	5.44	2.546	3.514	12.594	0.069	0.0112026812301	.	.	8.252e-06	0	0	0	0	0	0	6.064e-05	3.84e-05	1	26028	rs780984438	6.844e-06	6.84e-06	1.362e-06	1.238e-05	0.0005	3.46e-06	2.52e-06	0.0001	7.55e-05	0	0	0	0	0	0.0005	0	1.657e-05	6.968e-05	6.575e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.117	0.41096	T	0.268	0.30534	T	0.006	0.19866	B	0.006	0.14300	B	0.000954	0.40932	D	0.285613	0.906694	0.49910	D	1.285	0.32305	L	0.03	0.62183	T	-2.05	0.51968	N	0.38	0.42149	-0.9405	0.42536	T	0.154	0.48498	T	10	0.14879692	0.28172	T	0.011203	0.28580	T	0.069	0.20116	0.314	0.28935	0.680980400174	0.67826	0.17356944359484813	0.17276	0.146906915339	0.16579	0.646862208843	0.59539	T	0.050489	0.28609	T	-0.133768	0.30888	T	-0.248397	0.49976	T	0.384320914745331	0.28348	T	0.905509	0.69895	D	0.15029891	0.34223	0.17238443	0.39489	0.15029891	0.34222	0.17238443	0.39488	-3.014	0.10365	T	.	.	0.11	0.41602	B	.;.	.;.	3.712222	0.53000	23.3	0.9950492584252133	0.68264	0.82678	0.41873	D	AEFGBI	0.368949	0.45586	N	0.229676929115983	0.52643	3.437074	0.350928786225415	0.58562	4.027631	0.99999906727581	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	3.563000	0.53529	7.598000	0.61467	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.924:0.0:0.076	12.594	0.55813	807	0.43470	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1468.98	34	chr14	30936527	.	C	T	1468.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.467;DP=809;ExcessHet=0.0000;FS=2.392;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-2.860e-01;SOR=0.932	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1131	20	0	1	0
chr14	31122952	31122952	C	G	exonic	HECTD1	.	nonsynonymous SNV	HECTD1:NM_015382:exon27:c.G5077C:p.D1693H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.999	D	0.99	D	0.000	U	1.000	D	0.695	N	0.98	T	-0.883	T	0.196	T	0.743	4.862	27.8	5.44	2.567	7.765	19.263	0.347	0.0316980073351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.934e-05	0.0001	2.063e-05	1.803e-05	3.49e-05	1.341e-05	1.154e-05	1.393e-05	1.163e-05	3.011e-05	0	0	0	0	0	2.092e-05	1.669e-05	3.49e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.58626	D	0.002	0.79402	D	.	.	.	.	.	.	0.000418	0.44736	U	0.139995	1	0.81001	D	.	.	.	0.98	0.51714	T	-4.18	0.79316	D	0.744	0.81063	-0.8830	0.49521	T	0.196	0.55056	T	10	0.5129209	0.62201	D	0.031698	0.53716	D	0.393	0.70844	0.231	0.15855	0.626327245455	0.62328	0.3888103266673907	0.38796	1.60696827796	0.88818	0.917501449585	0.98127	D	0.125463	0.45119	T	0.113686	0.65732	D	-0.0744746	0.65305	T	0.993387579917908	0.84163	D	0.939306	0.77145	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.912	0.86720	P	.;.;.;.	.;.;.;.	5.354639	0.89813	31	0.99573649763884109	0.72561	0.99034	0.90260	D	AEFDGBI	0.895527	0.83563	D	0.343005611180877	0.58371	4.008926	0.466956206363015	0.65813	4.87146	1.0	0.98316	0.741868	0.97996	0	0.724815	0.89359	0	0.774882	0.98623	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	7.886000	0.85793	7.682000	0.65344	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.263	0.93965	592	0.68746	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	207.78	53	chr14	31122952	.	C	G	207.78	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-2.709e+00;DP=1510;ExcessHet=0.0000;FS=139.677;InbreedingCoeff=-0.2990;MLEAC=3;MLEAF=0.375;MQ=60.00;MQRankSum=0.00;QD=2.06;ReadPosRankSum=0.518;SOR=6.993	GT:AD:DP:GQ:PL	./.:52,0:52:0:0,0,819	3	0	1	17
chr14	31129185	31129185	C	T	exonic	HECTD1	.	nonsynonymous SNV	HECTD1:NM_015382:exon25:c.G4186A:p.D1396N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.999	D	0.959	D	0.000	U	1.000	D	0.55	N	1.17	T	-0.985	T	0.155	T	0.162	3.937	20.1	5.52	2.759	7.252	19.821	0.153	0.0083057554313	.	0.000199681	8.28e-06	0	0	0	0	0	0	6.056e-05	1.29e-05	2	154602	rs550393312	3.42e-06	3.42e-06	4.084e-06	2.75e-06	2.987e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.987e-05	0	0	0	0	0	2.698e-06	0	1.159e-05	1.314e-05	1.313e-05	0	2.687e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.435	0.17468	T	0.819	0.22154	T	.	.	.	.	.	.	0.000000	0.84330	U	0.000000	1	0.81001	D	.	.	.	1.07	0.39586	T	0.22	0.14193	N	0.321	0.67995	-0.9852	0.33784	T	0.155	0.48619	T	10	0.1992923	0.35933	T	0.008306	0.22004	T	0.153	0.40148	.	.	0.576976629178	0.57367	0.4966056052572081	0.49581	0.910079391451	0.71022	0.890729427338	0.95351	D	0.010059	0.15652	T	-0.211002	0.19237	T	-0.444012	0.28359	T	0.502391496729159	0.32717	D	0.934107	0.80130	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382	0.68123	A	.;.;.;.	.;.;.;.	6.554836	0.95395	35	0.99840616976969787	0.92143	0.97840	0.77522	D	AEFDGBCI	0.793613	0.72156	D	0.556034691145632	0.70448	5.503304	0.620390574986159	0.76421	6.488104	1.0	0.98316	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	7.310000	0.78255	7.723000	0.67399	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.821	0.96592	600	0.68026	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2487.98	34	chr14	31129185	.	C	T	2487.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.71;DP=878;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.77;ReadPosRankSum=0.868;SOR=0.695	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr14	31349791	31349791	G	T	exonic	HEATR5A	.	nonsynonymous SNV	HEATR5A:NM_015473:exon18:c.C2706A:p.D902E,	.	.	433	1088	1	0	0	1	0.000459348	0.0111	0.236	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.574	P	0.422	B	0.000	D	1.000	D	1.76	L	3.47	T	-0.575	T	0.303	T	0.329	3.342	17.25	4.57	1.281	2.980	15.483	0.056	0.00992460708505	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1023711254	4.951e-05	5.336e-05	5.065e-05	4.835e-05	0.0005	4.013e-05	3.688e-05	0.0001	7.56e-05	0	0	0	0	0	0.0005	5.696e-05	8.314e-05	1.166e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	6.551e-05	2.18e-06	8.2e-07	.	.	0	0	6.551e-05	0	0	0	0	1.47e-05	0	0	0.046	0.40573	D	0.065	0.44702	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	.	.	.	3.47	0.05188	T	-3.14	0.64019	D	0.309	0.34874	-0.5749	0.65819	T	0.303	0.67409	T	10	0.2995761	0.47509	T	0.009925	0.25833	T	0.083	0.24192	.	.	0.0762999501168	0.06990	0.2449868821257013	0.24412	.	.	0.704001784325	0.67723	T	0.165673	0.51161	T	-0.1487	0.28517	T	-0.451373	0.27547	T	0.585424363613129	0.35828	D	0.772323	0.40326	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.45617	B	.	.	2.721691	0.35600	19.94	0.99265295085214433	0.57356	0.94578	0.61622	D	AEFBI	0.599802	0.59268	D	0.552817530245668	0.70255	5.474603	0.52312351285565	0.69548	5.376295	0.999980510890363	0.51787	0.732398	0.92422	0	0.588066	0.40923	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.48	4.57	0.55860	3.066000	0.49695	3.826000	0.39973	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8604:0.1396	15.483	0.75275	779	0.47767	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	858.98	33	chr14	31349791	.	G	T	858.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.332e+00;DP=733;ExcessHet=0.0000;FS=8.958;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.52;ReadPosRankSum=-7.420e-01;SOR=0.075	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1083	20	0	1	0
chr14	31374957	31374957	C	T	exonic	HEATR5A	.	nonsynonymous SNV	HEATR5A:NM_015473:exon12:c.G1720A:p.V574I,	.	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.214	B	0.299	B	0.001	D	1.000	D	1.845	L	3.06	T	-1.115	T	0.038	T	0.123	3.007	16.03	4.65	2.695	4.712	15.604	0.061	.	0.0003	0.000199681	0.0024	0	0	0.0040	0.0104	0.0023	0.0119	0.0004	0.0012742	197	154602	rs200751288	0.0007	0.0007	0.0007	0.0006	0.0028	0.0006	0.0006	0.0024	0.0022	0	0	3.854e-05	0.0028	0.0095	0.0003	0.0002	0.0014	0.0002	0.0011	0.0011	0.0007	0.0015	0.0025	0.0010	0.0009	0.0015	0.0012	0	0	6.533e-05	0	0.0025	0.0102	0	0.0006	0.0009	0.0006	0.069	0.35537	T	0.105	0.38016	T	.	.	.	.	.	.	0.000809	0.41658	D	0.202905	0.99987	0.50225	D	.	.	.	3.06	0.08634	T	-0.86	0.23372	N	0.193	0.21188	-1.1146	0.02703	T	0.038	0.16203	T	10	0.0045880675	0.00095	T	.	.	.	0.061	0.17616	.	.	0.0482279557977	0.04254	0.2990949290561749	0.29822	.	.	0.418223798275	0.27594	T	0.048925	0.28159	T	-0.577759	0.00199	T	-0.60416	0.12463	T	0.0345963782863164	0.02739	T	0.888511	0.61827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11366	B	.	.	3.081787	0.41459	21.4	0.9935481818947649	0.60738	0.95774	0.66097	D	AEFBI	0.350338	0.44382	N	0.185817751735728	0.50519	3.241047	0.332131300867042	0.57437	3.909429	0.999986163406432	0.51787	0.615465	0.37627	0	0.601575	0.49859	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.72	4.65	0.57626	4.779000	0.62068	2.104000	0.30620	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9232:0.0:0.0768	15.604	0.76396	455	0.79073	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	953.98	33	chr14	31374957	.	C	T	953.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.455e+00;DP=756;ExcessHet=0.0000;FS=2.108;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.25;ReadPosRankSum=0.074;SOR=0.446	GT:AD:DP:GQ:PL	0/1:32,40:72:99:968,0,919	20	0	1	0
chr14	32600736	32600736	G	A	exonic	AKAP6	.	nonsynonymous SNV	AKAP6:NM_004274:exon7:c.G2674A:p.E892K,	.	.	424	1065	32	1	0	34	0.0157116	.	.	702857	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.986	D	0.000	D	0.578	D	0.345	N	3.4	T	-0.990	T	0.047	T	0.287	2.933	15.78	3.3	0.656	3.625	10.690	0.131	.	0.0091	0.00299521	0.0071	0.0012	0.0052	0.0001	0.0015	0.0111	0.0055	0.0018	0.0070698	1093	154602	rs34572259	0.0085	0.0085	0.0085	0.0084	0.0133	0.0084	0.0083	0.0109	0.0100	0.0017	0.0058	0.0191	5.04e-05	0.0016	0.0133	0.0096	0.0097	0.0023	0.0062	0.0062	0.0068	0.0056	0.0099	0.0059	0.0057	0.0093	0.0090	0.0013	0.0011	0.0070	0.0187	0.0002	0.0012	0.0238	0.0099	0.0052	0.0019	0.005	0.63226	D	0.027	0.58089	D	1.0	0.90584	D	0.986	0.76916	D	0.000038	0.55875	D	0.074651	0.577939	0.32350	D	0.695	0.17993	N	3.4	0.19450	T	-0.91	0.29323	N	0.725	0.76203	-0.9896	0.32702	T	0.047	0.20077	T	10	0.009763002	0.00219	T	.	.	.	0.131	0.35738	.	.	0.459974577466	0.45620	0.4104450211692473	0.40960	0.0771311899759	0.08663	0.735888004303	0.72368	T	0.17017	0.51782	T	-0.506004	0.00529	T	-0.490221	0.23368	T	0.0347308637286346	0.02762	T	0.835416	0.51562	T	0.22084916	0.44649	0.22094502	0.46887	0.22084916	0.44649	0.22094502	0.46886	-9.329	0.72742	D	.	.	0.100	0.17232	B	.;.;.	.;.;.	4.541604	0.71388	25.7	0.99883674826507607	0.95892	0.83575	0.42683	D	AEFDBI	0.220216	0.34500	N	0.272256118490707	0.54747	3.639588	0.265175929667817	0.53517	3.520271	0.999994986649258	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.48864	0.07692	0	0.530356	0.10902	0	.	.	5.18	3.3	0.36912	3.694000	0.54474	7.501000	0.59489	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0722:0.1326:0.7952:0.0	10.690	0.45058	607	0.67291	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1191.98	33	chr14	32600736	.	G	A	1191.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=805;ExcessHet=0.0000;FS=2.272;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.31;ReadPosRankSum=2.39;SOR=0.908	GT:AD:DP:GQ:PL	0/1:76,52:128:99:1206,0,1779	20	0	1	0
chr14	32773885	32773885	A	G	exonic	AKAP6	.	nonsynonymous SNV	AKAP6:NM_004274:exon12:c.A3580G:p.K1194E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.546	P	0.073	B	0.038	N	1.000	N	0.69	N	3.48	T	-1.081	T	0.013	T	0.357	2.879	15.59	5.1	2.052	4.640	9.678	0.066	0.00552198244849	.	0.00199681	0.0006	0	0	0.0081	0	3.085e-05	0	0	0.0005433	84	154602	rs148588675	0.0002	0.0002	0.0002	0.0002	0.0074	0.0002	0.0002	0.0067	0.0065	0	0	0	0.0074	0	0	4.497e-06	0.0001	2.319e-05	0.0003	0.0003	0.0002	0.0004	0.0096	0.0003	0.0002	0.0075	0.0068	0	0	0	0	0.0096	0	0	0	0.0005	0	0.096	0.31088	T	0.66	0.10893	T	0.546	0.38028	P	0.073	0.28123	B	0.038080	0.24327	N	0.460397	0.700642	0.30106	N	2.095	0.58118	M	3.48	0.17761	T	-1.07	0.27876	N	0.525	0.55453	-1.0805	0.07252	T	0.013	0.04890	T	10	0.008966535	0.00203	T	0.005522	0.14227	T	0.066	0.19193	.	.	0.376790727695	0.37294	0.22287909750589213	0.22202	0.110045376786	0.12417	0.403886348009	0.25609	T	0.056632	0.30342	T	-0.482522	0.00715	T	-0.455498	0.27092	T	0.0408262199487819	0.03840	T	0.656934	0.26653	T	0.14468001	0.33198	0.14616124	0.34638	0.14468001	0.33198	0.14616124	0.34637	-3.135	0.11703	T	.	.	0.082	0.12084	B	.;.	.;.	2.497225	0.32232	18.98	0.99799693933076783	0.88461	0.87434	0.46973	D	AEFGBI	0.315435	0.42000	N	0.0715167157436047	0.45138	2.775376	0.204562413869289	0.50100	3.205651	0.12833378655187	0.17038	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.1	5.1	0.68917	4.325000	0.59022	4.055000	0.41540	0.691000	0.84096	1.000000	0.71638	0.934000	0.28616	0.754000	0.35928	0.9217:0.0:0.0783:0.0	9.678	0.39214	813	0.42397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1989.98	40	chr14	32773885	.	A	G	1989.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.789e+00;DP=970;ExcessHet=0.0000;FS=1.928;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=-1.323e+00;SOR=0.851	GT:AD:DP:GQ:PL	0/1:87,80:167:99:2004,0,2305	20	0	1	0
chr14	32822266	32822266	A	C	exonic	AKAP6	.	nonsynonymous SNV	AKAP6:NM_004274:exon13:c.A4453C:p.K1485Q,	.	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.994	D	0.000	D	1.000	D	2.015	M	2.94	T	-1.122	T	0.080	T	0.752	2.766	15.21	5.7	2.168	5.442	14.517	0.149	0.0150141887326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.052	0.47581	T	0.999	0.77913	D	0.994	0.82059	D	0.000001	0.62929	D	0.000000	0.836081	0.81001	D	2.395	0.69210	M	2.94	0.09728	T	-0.56	0.17003	N	0.511	0.54234	-1.1216	0.02233	T	0.080	0.31795	T	10	0.48298725	0.60542	T	0.015014	0.35490	T	0.149	0.39377	0.269	0.21735	0.628088159632	0.62505	0.2722028804982955	0.27133	0.0775880094527	0.08728	0.604041695595	0.53474	T	0.079098	0.36047	T	0.0481969	0.58110	T	-0.168545	0.57575	T	0.920509338378906	0.57971	D	0.866813	0.56740	D	0.4806661	0.65940	0.32808992	0.58701	0.4806661	0.65941	0.32808992	0.58700	-3.888	0.22122	T	.	.	0.165	0.36396	B	.	.	3.760862	0.53966	23.4	0.9941387366867922	0.63405	0.97557	0.75530	D	AEFDBI	0.617639	0.60374	D	0.726186771381667	0.81348	7.50138	0.714572592753344	0.83487	8.033953	0.999978802915583	0.50053	0.638212	0.43195	0	0.670034	0.63936	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.7	5.7	0.88690	5.126000	0.64561	9.440000	0.80826	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.517	0.67412	886	0.28090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1679.98	33	chr14	32822266	.	A	C	1679.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.73;DP=841;ExcessHet=0.0000;FS=1.466;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=0.910;SOR=0.884	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1079	20	0	1	0
chr14	33801080	33801080	G	C	exonic	NPAS3	.	nonsynonymous SNV	NPAS3:NM_001165893:exon11:c.G2683C:p.A895P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.0	B	0.002	B	0.001	D	1.000	D	0.345	N	3.13	T	-1.040	T	0.019	T	0.605	2.639	14.78	4.6	2.672	2.718	13.267	0.193	0.00356386904702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.021	0.59159	D	0.0	0.02946	B	0.002	0.06944	B	0.000797	0.41772	D	0.250873	0.510681	0.31650	N	0.55	0.14455	N	3.13	0.10578	T	-1.31	0.32791	N	0.509	0.54234	-1.0397	0.17404	T	0.019	0.08079	T	10	0.24327093	0.41538	T	0.003564	0.08123	T	0.193	0.47281	0.3	0.26683	0.353352923073	0.34951	0.4706093762622014	0.46979	1.23739043305	0.81503	0.515695571899	0.41021	T	0.02384	0.43597	T	-0.116422	0.33708	T	-0.405008	0.32802	T	0.887138247489929	0.53761	D	0.89651	0.63872	D	0.34763414	0.56882	0.4068303	0.65045	0.34763414	0.56882	0.4068303	0.65045	-9.259	0.71325	D	.	.	0.176	0.42375	B	.;.;.;.;.;.	.;.;.;.;.;.	3.098493	0.41745	21.4	0.99383677932899961	0.62024	0.94426	0.61127	D	AEFDBI	0.717036	0.66868	D	-0.104321592181065	0.37204	2.16118	0.111272903296851	0.45123	2.781219	0.252161527628847	0.18691	0.549168	0.22868	0	0.588015	0.36545	0	0.658952	0.52864	0	0.616125	0.45549	0	.	.	5.68	4.6	0.56512	2.749000	0.47168	7.310000	0.58122	0.586000	0.30580	0.999000	0.42656	1.000000	0.68203	0.992000	0.67800	0.1197:0.0:0.8803:0.0	13.267	0.59570	935	0.14827	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1820.98	33	chr14	33801080	.	G	C	1820.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.190e+00;DP=850;ExcessHet=0.0000;FS=2.961;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=-3.200e-01;SOR=0.973	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1338	20	0	1	0
chr14	34533483	34533483	T	C	exonic	EAPP	.	nonsynonymous SNV	EAPP:NM_001318916:exon3:c.A313G:p.I105V	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.002	B	0.005	B	0.002	N	0.844	D	0.615	N	1.06	T	-1.042	T	0.040	T	0.115	0.729	7.874	-1.22	-0.357	0.479	10.741	0.024	0.00249308276342	.	0.00179712	0.0003	0	0	0.0022	0	0	0.0011	0.0012	0.0003169	49	154602	rs182501170	0.0001	0.0001	0.0001	0.0002	0.0015	0.0001	0.0001	0.0012	0.0011	0	0	0	0.0015	0	0	0	0.0001	0.0014	0.0002	0.0002	0.0002	0.0003	0.0052	0.0002	0.0001	0.0037	0.0032	0	0	0	0	0.0052	0	0	0	0	0.0014	0.568	0.07002	T	0.721	0.08870	T	0.002	0.09854	B	0.005	0.11217	B	0.001606	0.38497	N	0.316524	0.848999	0.35190	D	1.155	0.29575	L	1.06	0.39990	T	-0.11	0.08653	N	0.193	0.23884	-1.0416	0.16830	T	0.040	0.17234	T	10	0.0060106814	0.00135	T	0.002493	0.04953	T	0.024	0.04979	.	.	0.18995819373	0.18626	0.11190498217573697	0.11119	0.0345670809689	0.03633	0.336350023746	0.15891	T	0.004233	0.07436	T	-0.567036	0.00230	T	-0.588758	0.13773	T	0.00697391945868731	0.00079	T	0.693931	0.30359	T	0.01443719	0.00093	0.02241219	0.00267	0.01443719	0.00093	0.02241219	0.00266	-2.996	0.10138	T	.	.	0.065	0.14888	B	.;.;.	.;.;.	0.828831	0.12004	8.560	0.66648478742327444	0.08121	0.69594	0.34250	D	AEBI	0.081454	0.16482	N	-0.772352028422837	0.14034	0.695856	-0.632719012537735	0.18655	0.9975059	0.00343346050468484	0.10114	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.54	-1.22	0.09005	0.516000	0.22523	1.244000	0.25126	-0.123000	0.13640	0.992000	0.37556	1.000000	0.68203	0.971000	0.54645	0.0:0.3945:0.0:0.6055	10.741	0.45353	963	0.08280	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1036.98	45	chr14	34533483	.	T	C	1036.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.541;DP=780;ExcessHet=0.0000;FS=0.772;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=-3.440e-01;SOR=0.792	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1155	20	0	1	0
chr14	34801177	34801177	T	C	exonic	BAZ1A	.	nonsynonymous SNV	BAZ1A:NM_013448:exon8:c.A878G:p.N293S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.0	B	0.001	B	0.470	N	0.954	N	0.205	N	0.49	T	-1.037	T	0.075	T	0.009	1.955	12.49	0.010	0.057	-0.817	4.781	0.047	0.0108301134929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.484	0.09155	T	0.868	0.03589	T	0.0	0.02946	B	0.001	0.04355	B	0.469896	0.04919	N	1.279500	0.954269	0.26375	N	0.315	0.10303	N	0.49	0.55775	T	-0.99	0.26200	N	0.029	0.00666	-1.0371	0.18202	T	0.075	0.30210	T	10	0.03860995	0.02292	T	0.01083	0.27810	T	0.047	0.12962	0.197	0.10975	0.248133497653	0.24425	0.14549512418622482	0.14472	0.21363709283	0.23881	0.308223843575	0.11638	T	0.017936	0.14543	T	-0.347857	0.04863	T	-0.737449	0.03998	T	0.0429265267772065	0.04223	T	0.667233	0.27634	T	0.017248742	0.00257	0.021575375	0.00204	0.017248742	0.00257	0.021575375	0.00204	-2.753	0.07759	T	.	.	0.059	0.00847	B	.;.;.	.;.;.	-0.056329	0.03909	0.861	0.92407764220679312	0.21821	0.06221	0.12208	N	AEDBI	0.034249	0.04210	N	-0.991106270078904	0.08792	0.4136405	-0.911145590001133	0.11831	0.6051257	0.00652843808996885	0.11241	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.13	0.00961	0.13401	-0.910000	0.04163	-1.145000	0.06197	0.609000	0.47794	0.004000	0.16614	0.002000	0.18203	0.726000	0.34967	0.0:0.2632:0.2918:0.445	4.781	0.12574	951	0.11083	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	625.98	34	chr14	34801177	.	T	C	625.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.726;DP=753;ExcessHet=0.0000;FS=4.032;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=-1.727e+00;SOR=1.372	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1008	20	0	1	0
chr14	35266863	35266863	T	A	exonic	PRORP	.	nonsynonymous SNV	PRORP:NM_001256681:exon4:c.T296A:p.F99Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	1.0	D	0.987	D	0.000	D	1.000	D	1.97	M	0.95	T	-0.749	T	0.250	T	0.582	5.008	29.5	5.52	2.104	7.488	14.637	0.186	0.0310932505724	7.7e-05	.	1.648e-05	0	0	0	0	2.999e-05	0	0	1.29e-05	2	154602	rs369441143	1.026e-05	1.026e-05	1.089e-05	9.625e-06	0.0012	6.16e-06	4.89e-06	0.0006	0.0004	0	0	0	0	0	0.0012	4.496e-06	1.656e-05	2.319e-05	1.314e-05	1.313e-05	2.57e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.023	0.48186	D	0.039	0.51737	D	0.999	0.90584	D	0.974	0.77487	D	0.000000	0.84330	D	0.000000	0.99996	0.54805	D	.	.	.	0.92	0.46777	T	-1.95	0.47344	N	0.517	0.56662	-0.7494	0.57967	T	0.250	0.61969	T	10	0.46986142	0.59795	T	0.031093	0.53261	D	0.186	0.46104	.	.	0.722538789807	0.72009	0.47069004698208744	0.46988	0.680099033632	0.59965	0.583495259285	0.50579	T	0.023547	0.27041	T	-0.071069	0.41155	T	-0.243008	0.50504	T	0.92572420835495	0.58761	D	0.70483	0.42665	T	0.82699865	0.85695	0.7311272	0.84112	0.82699865	0.85697	0.7311272	0.84113	-8.64	0.66263	D	0.3851466126286071	0.47905	0.366	0.61942	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.716059	0.75812	26.4	0.99563542666236093	0.71953	0.98056	0.79226	D	AEBI	0.924436	0.90246	D	0.652629918332478	0.76539	6.50522	0.655117416871151	0.78993	6.989252	0.999997836804624	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.644132	0.48003	0	0.613276	0.41899	0	.	.	5.52	5.52	0.82153	7.382000	0.79001	7.858000	0.71298	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	14.637	0.68296	432	0.80690	.;.;.;Protein-only RNase P, C-terminal;.;.;Protein-only RNase P, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	932.98	33	chr14	35266863	.	T	A	932.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.140;DP=839;ExcessHet=0.0000;FS=5.423;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.24;ReadPosRankSum=0.614;SOR=1.321	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1222	20	0	1	0
chr14	35534662	35534662	C	G	exonic	INSM2	.	nonsynonymous SNV	INSM2:NM_032594:exon1:c.C410G:p.S137C,	.	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.96	D	0.007	N	1.000	D	0.695	N	0.14	T	-0.578	T	0.237	T	0.503	4.252	22.2	4.11	2.113	4.422	13.896	0.203	0.772839279227	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1397241732	7.946e-07	2.736e-06	0	1.628e-06	1.742e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.742e-05	1.319e-05	1.315e-05	1.29e-05	1.349e-05	0.0004	2.19e-06	8.2e-07	6.918e-05	2.891e-05	0	0	0	0	0.0004	0	0	0	0	0	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.96	0.70309	D	0.006889	0.31732	N	0.000000	0.999994	0.58761	D	2.305	0.65957	M	0.14	0.60854	T	-3.34	0.66325	D	0.133	0.12913	-0.5779	0.65700	T	0.237	0.60403	T	10	0.37124676	0.53492	T	0.772839	0.98205	D	0.203	0.48915	0.334	0.32167	0.222439326576	0.21863	0.432516381402901	0.43168	.	.	0.881881833076	0.94213	D	0.209663	0.56993	T	0.00307948	0.52079	T	-0.233353	0.51446	T	0.98567920923233	0.76598	D	0.577142	0.20757	T	0.46092448	0.64729	0.3779261	0.62882	0.46092448	0.64729	0.3779261	0.62881	-4.929	0.36060	T	.	.	0.335	0.55576	B	.	.	4.665922	0.74522	26.2	0.99189674989977328	0.54935	0.80341	0.40005	D	AEFDBHCI	0.606439	0.59678	D	0.466653280688608	0.65153	4.786949	0.459395322460442	0.65323	4.809206	0.999999999985954	0.74766	0.495885	0.18260	0	0.475579	0.06741	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	4.11	4.11	0.47350	2.274000	0.43049	7.326000	0.58184	0.467000	0.21759	0.981000	0.35396	1.000000	0.68203	0.907000	0.44265	0.0:1.0:0.0:0.0	13.896	0.63279	444	0.79803	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	335.98	40	chr14	35534662	.	C	G	335.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=620;ExcessHet=0.0000;FS=3.012;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.60;ReadPosRankSum=1.21;SOR=0.809	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,1215	20	0	1	0
chr14	35539573	35539573	C	T	exonic	RALGAPA1	.	nonsynonymous SNV	RALGAPA1:NM_001346246:exon40:c.G6224A:p.R2075H	.	.	424	1088	9	1	0	11	0.00502972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.994	D	0.003	N	1.000	D	1.15	L	-3.89	D	1.087	D	0.932	D	0.522	4.491	24.1	5.53	2.751	7.414	19.825	0.623	0.529829740894	0.0005	0.00199681	0.0009	9.63e-05	0.0004	0	0	0.0005	0.0044	0.0037	0.0004995	13	26028	rs146562217	0.0005	0.0005	0.0004	0.0007	0.0044	0.0005	0.0005	0.0041	0.0039	0.0001	0.0002	0.0021	0	5.617e-05	0.0022	0.0002	0.0011	0.0044	0.0004	0.0004	0.0003	0.0005	0.0050	0.0003	0.0003	0.0034	0.0029	4.814e-05	0	6.536e-05	0.0023	0	0	0.0068	0.0002	0.0019	0.0050	0.0	0.91255	D	0.043	0.49942	D	0.999	0.77913	D	0.994	0.82059	D	0.002558	0.36353	N	0.133176	0.999838	0.81001	D	.	.	.	-3.89	0.97830	D	-1.88	0.43906	N	0.381	0.42247	1.087	0.99119	D	0.932	0.97754	D	10	0.014767766	0.00310	T	0.52983	0.95572	D	0.623	0.85406	.	.	0.686157565238	0.68347	.	.	1.93239836197	0.93153	0.860249519348	0.91148	D	0.025289	0.18938	T	-0.0493288	0.44549	T	0.155846	0.80550	D	0.0765182385195581	0.09536	T	0.956004	0.83260	D	.	.	.	.	.	.	.	.	-4.706	0.33477	T	.	.	0.948	0.86689	P	.;.	.;.	2.382458	0.30587	18.48	0.99935064630916237	0.99579	0.98257	0.80997	D	AEFDGI	0.906650	0.85970	D	0.730130781601338	0.81607	7.562174	0.754572498619693	0.86499	8.908572	0.999999998944164	0.74766	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.53	5.53	0.82530	7.503000	0.80474	6.039000	0.52998	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.825	0.96608	444	0.79803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1422.98	33	chr14	35539573	.	C	T	1422.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.800e-02;DP=822;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=52.73;MQRankSum=-1.475e+00;QD=10.86;ReadPosRankSum=-6.230e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1237	20	0	1	0
chr14	35677991	35677991	T	C	exonic	RALGAPA1	.	nonsynonymous SNV	RALGAPA1:NM_001330075:exon21:c.A4442G:p.E1481G	.	.	430	1091	1	0	0	1	0.000458085	.	.	702864	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.35	T	0.73	P	0.286	B	0.000	D	1.000	D	0.69	N	-0.47	T	-0.864	T	0.117	T	0.367	3.547	18.09	5.38	2.036	7.646	15.373	0.124	.	0.0009	0.00319489	0.0049	0.0019	0.0475	0.0008	0	0.0002	0.0033	0.0001	0.0046054	712	154602	rs148266372	0.0015	0.0015	0.0017	0.0013	0.0438	0.0014	0.0014	0.0422	0.0415	0.0010	0.0438	0	0.0008	0	0	7.645e-05	0.0012	6.965e-05	0.0037	0.0038	0.0030	0.0046	0.0315	0.0035	0.0034	0.0291	0.0282	0.0014	0	0.0315	0	0.0019	0	0	0.0002	0.0019	0.0004	0.023	0.48186	D	0.261	0.23298	T	0.062	0.31978	B	0.03	0.34536	B	0.000015	0.62929	D	0.116848	0.999774	0.48980	D	0.55	0.14455	N	-0.47	0.70133	T	-1.85	0.44094	N	0.294	0.41261	-0.8640	0.50973	T	0.117	0.41231	T	10	0.003970742	0.00077	T	.	.	.	0.124	0.34239	.	.	0.168254554758	0.16434	0.2718298507167534	0.27095	1.32223500528	0.83470	0.586012840271	0.50932	T	0.023934	0.21334	T	-0.338542	0.05490	T	-0.224031	0.52348	T	0.0152032870638134	0.00333	T	0.953705	0.82322	D	0.18409967	0.39709	0.19058302	0.42469	0.18409967	0.39709	0.19058302	0.42468	-8.188	0.64634	D	0.5160537097627915	0.58905	0.136	0.46949	B	.;.;.;.;.	.;.;.;.;.	4.176118	0.62829	24.5	0.99786777242371549	0.87308	0.98087	0.79488	D	AEFGBI	0.886102	0.81719	D	0.0535426480001212	0.44307	2.707042	0.235209863220506	0.51811	3.360591	0.999999999843554	0.74766	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.528226	0.09195	0	.	.	5.38	5.38	0.77279	7.628000	0.82379	7.864000	0.71599	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	15.373	0.74294	571	0.70397	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	789.98	35	chr14	35677991	.	T	C	789.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.778;DP=753;ExcessHet=0.0000;FS=3.662;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.11;ReadPosRankSum=8.000e-03;SOR=0.590	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1098	20	0	1	0
chr14	35870416	35870416	G	A	exonic	BRMS1L	.	nonsynonymous SNV	BRMS1L:NM_032352:exon10:c.G911A:p.S304N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.421	B	0.143	B	0.000	D	1.000	D	1.905	M	.	.	-0.640	T	0.253	T	0.41	2.633	14.76	5.86	2.776	7.119	20.202	0.206	0.00392158159419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.909e-07	6.16e-06	0	1.388e-06	3.036e-05	0	0	.	.	3.036e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.026	0.55759	D	0.421	0.35387	B	0.143	0.33763	B	0.000000	0.84330	D	0.111584	0.999995	0.58761	D	2.34	0.67151	M	.	.	.	-0.86	0.23372	N	0.351	0.39254	-0.6397	0.63158	T	0.253	0.62292	T	9	0.2619985	0.43664	T	0.003922	0.09242	T	0.206	0.49396	0.161	0.06507	0.43965937752	0.43585	0.547906895027508	0.54716	0.709260744387	0.61606	0.779643476009	0.78874	T	0.032588	0.22553	T	0.0293815	0.55641	T	-0.195572	0.55065	T	0.777600944042206	0.44900	D	0.785321	0.42297	T	0.2596511	0.49019	0.2739856	0.53323	0.2596511	0.49019	0.2739856	0.53322	-5.633	0.43093	T	.	.	0.317	0.54257	B	.	.	3.479125	0.48577	22.6	0.98770389585321949	0.45955	0.96420	0.69051	D	AEFGI	0.807404	0.73145	D	0.410616452888844	0.62004	4.409637	0.540354922838467	0.70728	5.548182	0.999998355966963	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.86	5.86	0.93936	7.140000	0.76912	11.907000	0.99503	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.202	0.98265	732	0.54084	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	39.13	90	chr14	35870416	.	G	A	39.13	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-3.063e+00;DP=2030;ExcessHet=0.0000;FS=208.044;InbreedingCoeff=-0.0972;MLEAC=1;MLEAF=0.031;MQ=60.00;MQRankSum=0.00;QD=0.45;ReadPosRankSum=-8.660e-01;SOR=10.112	GT:AD:DP:GQ:PL	./.:89,0:89:0:0,0,1810	15	0	1	5
chr14	37285407	37285407	G	C	exonic	MIPOL1	.	nonsynonymous SNV	MIPOL1:NM_138731:exon8:c.G583C:p.A195P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.000	D	1.000	D	2.31	M	-0.06	T	-0.078	T	0.458	T	0.961	4.736	26.4	5.4	2.539	7.679	19.173	0.552	0.0734123623252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.63226	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.99987	0.52396	D	2.51	0.73131	M	-0.08	0.64264	T	-3.39	0.66896	D	0.943	0.95139	-0.0784	0.80589	T	0.458	0.78912	T	10	0.82348394	0.81539	D	0.073412	0.71782	D	0.552	0.81485	0.153	0.05648	0.909346635454	0.90844	0.7498326337326502	0.74930	0.24159901889	0.26684	0.482930094004	0.36460	T	0.447019	0.78944	T	0.332595	0.85338	D	0.239973	0.85146	D	0.991514444351196	0.81819	D	0.925507	0.72634	D	0.84151787	0.86717	0.8081237	0.88781	0.84151787	0.86718	0.8081237	0.88782	-15.844	0.97518	D	.	.	0.986	0.93065	P	.;.;.;.;.;.	.;.;.;.;.;.	5.603906	0.92480	32	0.99822894961695807	0.90590	0.97976	0.78572	D	AEFI	0.945202	0.95321	D	0.836148564089701	0.88305	9.528976	0.809419349571205	0.90441	10.40855	0.999995069879723	0.74766	0.634777	0.41761	0	0.573888	0.26702	0	0.658983	0.55881	0	0.645665	0.59343	0	.	.	5.4	5.4	0.77957	7.821000	0.84782	11.570000	0.93280	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.173	0.93576	932	0.16191	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02941	110.61	103	chr14	37285407	.	G	C	110.61	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-3.755e+00;DP=2110;ExcessHet=0.0000;FS=201.742;InbreedingCoeff=-0.0812;MLEAC=1;MLEAF=0.029;MQ=60.00;MQRankSum=0.00;QD=0.70;ReadPosRankSum=-7.550e-01;SOR=10.919	GT:AD:DP:GQ:PL	0/0:117,40:173:47:0,47,2184	16	0	1	4
chr14	37422921	37422921	G	A	exonic	MIPOL1	.	nonsynonymous SNV	MIPOL1:NM_138731:exon12:c.G1003A:p.E335K	.	.	7	1514	1	0	0	1	0.000330142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.999	D	0.996	D	0.001	D	0.854	D	1.995	M	-0.21	T	-0.177	T	0.445	T	0.828	2.459	14.18	5.81	2.756	5.464	16.995	0.226	0.0846298048995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.006	0.70582	D	0.999	0.77913	D	0.996	0.84481	D	0.000749	0.42006	D	0.097074	0.853893	0.35269	D	1.04	0.26193	L	-0.24	0.68329	T	-2.07	0.50175	N	0.847	0.86833	-0.1768	0.78261	T	0.445	0.78149	T	10	0.6909399	0.71851	D	0.08463	0.74366	D	0.226	0.52472	0.268	0.21576	0.809288029322	0.80750	0.5032159496782164	0.50243	0.226704076737	0.25215	0.680275440216	0.64307	T	0.323078	0.69402	T	0.206177	0.74470	D	0.0583832	0.74138	D	0.772193000412088	0.44571	D	0.947205	0.79675	D	0.21431568	0.43834	0.26622573	0.52466	0.21431568	0.43834	0.26622573	0.52465	-9.759	0.72456	D	.	.	0.528	0.65841	A	.;.;.;.;.;.	.;.;.;.;.;.	5.241613	0.87993	29.4	0.95792879103211026	0.27836	0.73724	0.36061	D	AEFDHCI	0.662747	0.63251	D	0.615436819430288	0.74150	6.084117	0.65273999729003	0.78815	6.952794	0.999999856070245	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.81	5.81	0.92413	6.105000	0.71165	11.622000	0.93628	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	16.995	0.86238	912	0.21483	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2521.98	34	chr14	37422921	.	G	A	2521.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.500e-02;DP=933;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.73;ReadPosRankSum=-1.149e+00;SOR=0.674	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1225	20	0	1	0
chr14	37592451	37592451	G	C	exonic	FOXA1	.	nonsynonymous SNV	FOXA1:NM_004496:exon2:c.C333G:p.S111R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.232	B	0.382	B	0.661	N	1.000	N	1.895	L	2.05	T	-0.924	T	0.059	T	0.22	2.653	14.83	-0.349	0.054	-2.046	3.418	0.056	0.0374746007558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.89e-07	6.84e-07	0	1.385e-06	1.163e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.163e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.201	0.27503	T	0.232	0.30664	B	0.382	0.43908	B	0.660528	0.10431	N	0.849225	0.999951	0.19072	N	1.445	0.36358	L	2.05	0.20664	T	-1.72	0.40850	N	0.191	0.20925	-0.9244	0.44943	T	0.059	0.24908	T	10	0.1600664	0.30059	T	0.037475	0.57640	D	0.056	0.15993	0.571	0.69431	0.17948927462	0.17512	0.6921162177258938	0.69151	.	.	0.783064603806	0.79391	T	0.393404	0.75282	T	-0.258935	0.13024	T	-0.609719	0.12008	T	0.320598848130091	0.25846	T	0.666133	0.27528	T	0.14048892	0.32411	0.16231567	0.37710	0.14048892	0.32410	0.16231567	0.37709	-9.117	0.68446	D	.	.	0.856	0.80068	P	.	.	0.663633	0.10320	7.051	0.99476763411479407	0.66633	0.08833	0.14703	N	AEFDBHCI	0.090950	0.18425	N	-0.587820531342189	0.19313	1.009832	-0.648516107283873	0.18254	0.9743373	0.9999999807492	0.74766	0.59774	0.34471	0	0.573888	0.26702	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.3	-0.349	0.11983	-1.637000	0.02117	-4.156000	0.02310	0.640000	0.52149	0.000000	0.06391	0.000000	0.08366	0.802000	0.37819	0.0885:0.3084:0.3749:0.2281	3.418	0.06958	649	0.63102	Fork-head N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1081.98	33	chr14	37592451	.	G	C	1081.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.256;DP=1016;ExcessHet=0.0000;FS=4.216;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=-1.476e+00;SOR=0.354	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1203	20	0	1	0
chr14	37592558	37592558	C	G	exonic	FOXA1	.	nonsynonymous SNV	FOXA1:NM_004496:exon2:c.G226C:p.G76R,	.	.	427	1093	2	0	0	2	0.000914077	.	.	2337498	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.999	D	0.977	D	0.036	U	1.000	D	2.05	M	1.8	T	-0.816	T	0.155	T	0.434	4.902	28.2	4.16	2.135	3.814	16.257	0.306	0.0280549931822	7.9e-05	.	8.339e-06	0	0	0	0	1.52e-05	0	0	6.5e-06	1	154602	rs368989227	1.163e-05	1.163e-05	4.084e-06	1.925e-05	0.0003	7.09e-06	5.79e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	1.169e-05	3.312e-05	0	6.571e-06	6.567e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.017	0.60337	D	0.999	0.77913	D	0.977	0.73820	D	0.036038	0.24572	U	0.293579	1	0.81001	D	2.585	0.75554	M	1.8	0.25344	T	-2.21	0.49684	N	0.552	0.57775	-0.8164	0.54158	T	0.155	0.48602	T	10	0.63916534	0.68956	D	0.028055	0.50789	D	0.306	0.62729	.	.	0.532407240426	0.52889	0.6957414976324975	0.69515	.	.	0.802088499069	0.82281	T	0.371992	0.73626	T	-0.0827618	0.39263	T	-0.356658	0.38438	T	0.831929401955793	0.48680	D	0.884412	0.60756	D	0.2762942	0.50691	0.33820984	0.59602	0.2762942	0.50691	0.33820984	0.59601	-9.792	0.72656	D	.	.	0.890	0.82105	P	.	.	4.750415	0.76703	26.6	0.9991371682283583	0.98238	0.95959	0.66899	D	AEFDBHCI	0.764079	0.70098	D	0.587394758917952	0.72387	5.797721	0.523659036875885	0.69585	5.381539	1.0	0.98316	0.582742	0.33608	0	0.573888	0.26702	0	0.606814	0.37721	0	0.620976	0.48614	0	.	.	4.16	4.16	0.48138	3.990000	0.56677	7.715000	0.67011	0.587000	0.30956	0.725000	0.28872	1.000000	0.68203	0.290000	0.24260	0.0:1.0:0.0:0.0	16.257	0.82349	649	0.63102	Fork-head N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1855.98	33	chr14	37592558	.	C	G	1855.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.713;DP=1005;ExcessHet=0.0000;FS=1.199;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.73;ReadPosRankSum=0.192;SOR=0.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1485	20	0	1	0
chr14	37622326	37622326	G	A	exonic	TTC6	.	nonsynonymous SNV	TTC6:NM_001310135:exon3:c.G310A:p.A104T,	.	.	416	1097	7	2	0	11	0.00498866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.721	N	.	.	0.55	N	-0.7	T	-0.808	T	0.219	T	0.117	4.405	23.3	3.62	1.011	0.713	8.865	0.069	0.215393103698	.	.	0.0014	0	0.0096	0	.	0.0043	0	0.0003	0.0002393	37	154602	rs748642355	0.0007	0.0007	0.0008	0.0007	0.0225	0.0007	0.0007	0.0193	0.0181	0.0003	0.0008	0.0033	0	0.0002	0.0225	0.0006	0.0015	0.0004	0.0008	0.0008	0.0008	0.0008	0.0010	0.0007	0.0007	0.0008	0.0008	0.0002	0	0.0008	0.0032	0	9.429e-05	0.0479	0.0010	0.0028	0.0002	0.361	0.11882	T	0.342	0.17910	T	.	.	.	.	.	.	0.721412	0.06316	N	1.183550	.	.	.	.	.	.	-0.7	0.72785	T	-1.07	0.27876	N	0.129	0.12341	-0.8078	0.54683	T	0.219	0.58214	T	6	0.004866183	0.00104	T	0.215393	0.87506	D	0.069	0.20116	0.339	0.32979	0.527759996296	0.52422	.	.	0.0339664126179	0.03563	.	.	.	0.014476	0.12316	T	-0.449685	0.01134	T	-0.454096	0.27244	T	0.0599981270768644	0.07169	T	0.451655	0.12799	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.14888	B	.	.	1.120000	0.15057	11.55	0.99547085722781181	0.70898	0.15720	0.19049	N	AEFDBHCIJ	.	.	.	-0.479049624249753	0.22769	1.218073	-0.524462704612144	0.21490	1.162756	0.999999639181731	0.74766	0.443343	0.08805	1	0.573888	0.26702	0	0.666236	0.60216	0	0.603991	0.37454	0	.	.	4.51	3.62	0.40616	0.737000	0.25812	0.170000	0.15507	0.526000	0.24426	0.001000	0.13787	0.000000	0.08366	0.032000	0.13371	0.107:0.0:0.893:0.0	8.865	0.34436	682	0.59757	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3161.11	33	chr14	37622326	.	G	A	3161.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.29;DP=901;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=-2.300e-02;SOR=0.691	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1199	19	0	2	0
chr14	37807426	37807426	A	G	exonic	TTC6	.	nonsynonymous SNV	TTC6:NM_001310135:exon25:c.A4469G:p.Y1490C,	.	.	440	1079	3	0	0	3	0.00138825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	1.0	D	0.995	D	0.001	D	0.964	D	.	.	-0.04	T	-0.213	T	0.385	T	0.34	2.938	15.79	1.52	0.924	1.609	10.194	0.322	0.0858349618772	.	0.000199681	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs74824955	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	3.171e-05	2.803e-05	0	2.803e-05	0	0	0.0002	0.0001	0.0001	6.567e-05	6.562e-05	0.0001	2.685e-05	0.0001	3.515e-05	2.615e-05	5.843e-05	4.24e-05	4.813e-05	0	0	0	0	0	0	0.0001	0	0	0.014	0.53900	D	0.001	0.83351	D	1.0	0.90584	D	0.995	0.83170	D	0.000808	0.41658	D	0.162786	.	.	.	.	.	.	-0.04	0.68329	T	-4.4	0.77308	D	0.797	0.81559	-0.2126	0.77346	T	0.385	0.74061	T	8	0.7285713	0.74141	D	0.085835	0.74615	D	0.322	0.64420	.	.	0.616691646379	0.61359	.	.	0.263017185051	0.28861	0.598864257336	0.52744	T	0.149218	0.49994	T	-0.219289	0.18091	T	-0.304461	0.44251	T	0.817053496837616	0.47555	D	0.881612	0.60121	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.44227	B	.;.	.;.	3.929972	0.57431	23.9	0.99738496511908237	0.83337	0.69826	0.34342	D	AEFI	0.309179	0.41555	N	0.245258392384438	0.53404	3.509464	0.182820454420145	0.48905	3.100	0.0733720325062711	0.15632	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.6	1.52	0.22158	1.549000	0.35819	2.994000	0.35893	0.750000	0.87069	0.895000	0.31310	0.977000	0.30130	0.962000	0.52141	0.6512:0.0:0.0:0.3488	10.194	0.42219	594	0.68584	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1368.98	36	chr14	37807426	.	A	G	1368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.629;DP=785;ExcessHet=0.0000;FS=1.847;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.74;ReadPosRankSum=1.19;SOR=1.003	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1186	20	0	1	0
chr14	37817606	37817606	G	A	exonic	TTC6	.	nonsynonymous SNV	TTC6:NM_001368142:exon8:c.G620A:p.R207Q	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.022	B	0.004	B	0.381	N	1.000	N	-0.345	N	0.66	T	-1.036	T	0.080	T	0.088	0.201	5.085	-0.44	0.044	1.288	5.345	0.040	0.0164436967503	.	.	5.797e-05	0	0	0.0003	0	6.025e-05	0	0	5.17e-05	8	154602	rs764797856	6.294e-05	6.293e-05	6.126e-05	6.464e-05	7.558e-05	5.228e-05	4.846e-05	5.623e-05	5.196e-05	5.975e-05	6.709e-05	0	7.558e-05	0	0	6.925e-05	3.312e-05	5.797e-05	7.225e-05	7.219e-05	8.997e-05	5.374e-05	0.0004	3.97e-05	3.126e-05	6.847e-05	2.865e-05	4.813e-05	0	6.542e-05	0	0.0004	0	0	8.82e-05	0	0	0.395	0.10659	T	0.522	0.13832	T	0.022	0.18677	B	0.004	0.10090	B	0.381296	0.13385	N	0.648818	.	.	.	-1.61	0.00416	N	0.66	0.62762	T	0.09	0.08187	N	0.223	0.25006	-1.0362	0.18481	T	0.080	0.31556	T	9	0.031945646	0.01336	T	0.016444	0.37697	T	0.040	0.10527	0.55	0.66576	0.154104182512	0.14974	.	.	0.036978096789	0.03917	0.240965902805	0.02878	T	0.003292	0.02698	T	-0.417915	0.01764	T	-0.573654	0.15115	T	0.0130939528547933	0.00230	T	0.245375	0.07077	T	0.029014444	0.02329	0.035564706	0.02832	0.029014444	0.02329	0.035564706	0.02832	-2.948	0.09632	T	.	.	0.058	0.03231	B	.;.;.;.	.;.;.;.	0.777837	0.11479	8.082	0.52645751781857675	0.04787	0.00430	0.02113	N	AEFBI	0.028392	0.02493	N	-1.23769801087115	0.04464	0.2015355	-1.20995818288348	0.05749	0.274802	0.988527374637704	0.31545	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.12	-0.44	0.11649	1.511000	0.35409	3.945000	0.40631	-0.047000	0.17328	0.116000	0.23103	0.996000	0.32793	0.399000	0.26759	0.4299:0.3949:0.1752:0.0	5.345	0.15307	591	0.68823	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1886.98	39	chr14	37817606	.	G	A	1886.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.11;DP=837;ExcessHet=0.0000;FS=1.305;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.29;ReadPosRankSum=1.16;SOR=0.641	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1386	20	0	1	0
chr14	38255754	38255754	A	T	exonic	CLEC14A	.	nonsynonymous SNV	CLEC14A:NM_175060:exon1:c.T269A:p.L90Q,	.	.	406	1114	2	0	0	2	0.000896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.999	D	0.938	D	0.168	N	0.838	D	0.895	L	0.56	T	-0.784	T	0.187	T	0.716	3.044	16.16	3.91	2.007	0.991	9.431	0.272	0.294191016738	.	.	5.172e-05	0.0005	0	0	0	0	0	0	3.84e-05	1	26028	.	2.148e-06	2.052e-06	1.415e-06	2.897e-06	2.493e-05	5.7e-07	1.6e-07	4.14e-06	1.55e-06	0	0	0	0	0	0	0	1.719e-05	2.493e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.34800	T	0.0	0.92824	D	0.999	0.77913	D	0.938	0.67350	D	0.167529	0.17474	N	0.462954	0.837672	0.35016	D	2.045	0.56016	M	0.56	0.54540	T	-0.55	0.16799	N	0.608	0.62526	-0.7841	0.56070	T	0.187	0.53767	T	10	0.67759585	0.71084	D	0.294191	0.90666	D	0.272	0.58758	0.749	0.87988	0.688694716643	0.68602	0.45410845455309373	0.45328	1.62602313597	0.89152	0.750069737434	0.74456	T	0.021807	0.16921	T	0.0549741	0.58980	T	-0.15881	0.58459	T	0.810814380645752	0.47105	D	0.551745	0.19033	T	0.29421136	0.52381	0.36178195	0.61596	0.29421136	0.52381	0.36178195	0.61595	-2.974	0.09903	T	.	.	0.197	0.41918	B	.	.	3.730150	0.53359	23.4	0.99046212070934536	0.51140	0.08033	0.14010	N	AEFDBHCI	0.278721	0.39294	N	0.0590230146689155	0.44559	2.727707	-0.0156878489965112	0.39005	2.306298	0.999999988147735	0.74766	0.443343	0.08805	1	0.573888	0.26702	0	0.666236	0.60216	0	0.56214	0.19341	0	.	.	3.91	3.91	0.44383	0.874000	0.27715	8.196000	0.76798	0.691000	0.84096	0.011000	0.18532	1.000000	0.68203	0.963000	0.52385	1.0:0.0:0.0:0.0	9.431	0.37776	805	0.43675	C-type lectin-like|C-type lectin-like	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1130.98	34	chr14	38255754	.	A	T	1130.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.824;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=0.979;SOR=0.658	GT:AD:DP:GQ:PL	0/1:42,39:81:99:1145,0,1166	20	0	1	0
chr14	39180577	39180577	A	G	exonic	PNN	.	nonsynonymous SNV	PNN:NM_002687:exon9:c.A868G:p.M290V,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.001	B	0.001	B	0.000	N	1.000	D	1.43	L	1.56	T	-1.105	T	0.033	T	0.236	0.408	6.217	4.82	1.074	0.378	10.479	0.081	.	0.0002	0.00599042	0.0014	0.0008	0.0003	0.0177	0	0.0001	0	0	0.0013907	215	154602	rs142700275	0.0004	0.0004	0.0004	0.0004	0.0091	0.0004	0.0004	0.0083	0.0080	0.0006	0.0002	0.0010	0.0091	0	0.0002	0.0001	0.0006	8.12e-05	0.0011	0.0011	0.0011	0.0010	0.0181	0.0009	0.0009	0.0152	0.0141	0.0010	0	0.0010	0.0014	0.0181	0	0	8.82e-05	0	0	0.211	0.19569	T	0.495	0.11371	T	0.001	0.07471	B	0.001	0.04355	B	0.000215	0.47681	N	0.284712	0.87894	0.28082	N	1.295	0.32453	L	1.56	0.29602	T	-0.66	0.19085	N	0.088	0.06587	-1.1052	0.03517	T	0.033	0.14160	T	10	0.0067246556	0.00153	T	.	.	.	0.081	0.23632	.	.	0.282179105231	0.27821	0.31383347508777176	0.31296	0.0769748553419	0.08643	0.486395388842	0.36939	T	0.186395	0.53968	T	-0.554821	0.00273	T	-0.554802	0.16867	T	0.0111974259272471	0.00164	T	0.766923	0.39491	T	0.10452359	0.24711	0.14277308	0.33955	0.10452359	0.24711	0.14277308	0.33954	-2.361	0.04900	T	.	.	0.06	0.00934	B	.	.	1.922993	0.24423	16.39	0.9406844084491679	0.24209	0.94228	0.60504	D	AEFDBHCI	0.252500	0.37217	N	-0.241266926687858	0.31454	1.763822	-0.0640812625810818	0.36887	2.152507	0.999999966395041	0.74766	0.722319	0.85440	0	0.697927	0.68747	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.97	4.82	0.61641	0.471000	0.21811	5.313000	0.48269	0.756000	0.94297	0.940000	0.32642	1.000000	0.68203	1.000000	0.97212	0.8658:0.0:0.1342:0.0	10.479	0.43867	845	0.36510	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1380.98	38	chr14	39180577	.	A	G	1380.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.000e-03;DP=817;ExcessHet=0.0000;FS=0.662;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.96;ReadPosRankSum=0.630;SOR=0.824	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,987	20	0	1	0
chr14	39246977	39246977	G	A	exonic	MIA2	.	nonsynonymous SNV	MIA2:NM_001329214:exon4:c.G403A:p.G135S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.760	N	1.000	N	-1.905	N	3.46	T	-0.996	T	0.022	T	0.038	-1.602	0.014	2.88	0.407	0.910	1.591	0.036	0.00444360329764	.	0.000199681	2.845e-05	0.0001	0	0	0	3.319e-05	0	0	3.23e-05	5	154602	rs570181343	9.307e-06	1.231e-05	9.914e-06	8.687e-06	6.454e-05	5.19e-06	4e-06	1.069e-05	4e-06	3.252e-05	6.454e-05	0	5.101e-05	0	0	5.525e-06	1.735e-05	1.364e-05	1.971e-05	1.969e-05	1.286e-05	2.688e-05	7.227e-05	5.24e-06	2.45e-06	1.916e-05	1.031e-05	7.227e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.607	0.07766	T	0.0	0.02946	B	0.0	0.01387	B	0.760102	0.09630	N	0.869674	1	0.08975	N	-2.175	0.00131	N	3.46	0.38556	T	0.77	0.02163	N	0.032	0.00825	-0.9962	0.30974	T	0.022	0.09513	T	9	0.014003068	0.00295	T	0.004444	0.10875	T	0.036	0.09122	0.338	0.32816	0.0716867268079	0.06686	0.06858747717760887	0.06796	0.0234874963738	0.02381	0.24319922924	0.03086	T	0.015979	0.13301	T	-0.520694	0.00436	T	-0.749049	0.03523	T	0.0347655896993612	0.02768	T	0.518548	0.16835	T	0.031411577	0.02975	0.063230716	0.12493	0.031411577	0.02975	0.063230716	0.12492	-2.501	0.05788	T	.	.	0.062	0.01309	B	.;.;.	.;.;.	0.357559	0.07303	3.914	0.31579262367167699	0.01787	0.00983	0.03743	N	AEFBI	0.047772	0.08081	N	-1.29161063151253	0.03776	0.1692621	-1.16387117807943	0.06522	0.314217	0.906163057420775	0.26224	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.24	2.88	0.32617	1.085000	0.30452	1.320000	0.25596	-0.063000	0.16611	0.000000	0.06391	0.000000	0.08366	0.732000	0.35165	0.523:0.1316:0.2185:0.1269	1.591	0.02493	788	0.46569	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	784.98	33	chr14	39246977	.	G	A	784.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.53;DP=762;ExcessHet=0.0000;FS=4.467;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.06;ReadPosRankSum=0.640;SOR=0.793	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1131	20	0	1	0
chr14	39247322	39247322	T	C	exonic	MIA2	.	nonsynonymous SNV	MIA2:NM_001329214:exon4:c.T748C:p.S250P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.963	D	0.696	P	0.063	N	1.000	N	2.045	M	2.98	T	-0.932	T	0.171	T	0.508	1.897	12.30	3.22	0.388	1.931	5.826	0.125	0.0180242904035	0.0004	0.000199681	0.0003	9.654e-05	0.0002	0	0.0002	0.0004	0	0.0001	0.0003169	49	154602	rs150000006	0.0003	0.0003	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0	8.949e-05	0	0	0.0001	0	0.0003	0.0002	9.276e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	9.626e-05	0	6.54e-05	0	0	9.42e-05	0	0.0004	0	0	0.005	0.68238	D	0.007	0.69154	D	0.963	0.55692	D	0.696	0.54017	P	0.062785	0.22072	N	0.234402	0.999961	0.18878	N	2.34	0.67151	M	2.98	0.52187	T	-1.38	0.58248	N	0.391	0.45331	-0.9320	0.43844	T	0.171	0.51197	T	9	0.07811263	0.12410	T	0.018024	0.39939	T	0.125	0.34456	.	.	0.667875860975	0.66507	0.07185426951506377	0.07122	0.159575760648	0.18006	0.290090382099	0.08935	T	0.170857	0.51876	T	-0.292187	0.09417	T	-0.325418	0.41978	T	0.103766178126393	0.12766	T	0.679332	0.28809	T	0.10668909	0.25228	0.21922196	0.46654	0.10668909	0.25228	0.21922196	0.46653	-4.394	0.31045	T	.	.	0.099	0.25331	B	.;.;.	.;.;.	2.360458	0.30275	18.39	0.99556822214461937	0.71521	0.68907	0.33981	D	AEFDGBIJ	0.558799	0.56787	D	-0.0490550108068739	0.39644	2.341261	-0.0958735666911628	0.35561	2.05879	0.999971675423615	0.50053	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	5.66	3.22	0.36041	1.985000	0.40289	0.887000	0.22442	-0.693000	0.04107	0.999000	0.42656	0.803000	0.26967	0.240000	0.23001	0.2668:0.0:0.2334:0.4999	5.826	0.17810	789	0.46346	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1236.98	42	chr14	39247322	.	T	C	1236.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.006e+00;DP=915;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=-7.630e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1131	20	0	1	0
chr14	39247626	39247626	C	G	exonic	MIA2	.	nonsynonymous SNV	MIA2:NM_001329214:exon4:c.C1052G:p.A351G	.	.	429	1066	26	1	0	28	0.012963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	B	0.033	B	0.940	N	1.000	N	0.895	L	3.16	T	-1.003	T	0.075	T	0.05	0.509	6.757	3.49	0.238	0.999	10.844	0.053	.	0.0084	0.00319489	0.0067	0.0026	0.0048	0.0001	0.0041	0.0100	0.0132	0.0010	0.0067852	1049	154602	rs142210112	0.0088	0.0088	0.0091	0.0086	0.0227	0.0087	0.0087	0.0196	0.0184	0.0019	0.0059	0.0098	2.52e-05	0.0048	0.0227	0.0101	0.0098	0.0012	0.0075	0.0075	0.0080	0.0069	0.0112	0.0071	0.0070	0.0105	0.0103	0.0019	0	0.0111	0.0115	0	0.0056	0.0170	0.0112	0.0095	0.0010	0.148	0.30943	T	0.502	0.23984	T	0.01	0.18235	B	0.033	0.22329	B	0.939903	0.07588	N	1.036780	1	0.08975	N	1.525	0.38595	L	3.16	0.47130	T	-0.84	0.28906	N	0.117	0.10626	-1.0026	0.29168	T	0.075	0.30210	T	9	0.002502352	0.00038	T	.	.	.	0.053	0.14996	.	.	0.144782658237	0.14088	0.0588009675969487	0.05821	0.0278430330954	0.02857	0.224604547024	0.01592	T	0.051134	0.28794	T	-0.657052	0.00066	T	-0.707191	0.05441	T	0.0049388786877943	0.00053	T	0.69713	0.30670	T	0.037698407	0.04881	0.087413564	0.20316	0.037698407	0.04881	0.087413564	0.20316	-4.147	0.25980	T	.	.	0.102	0.18122	B	.;.;.	.;.;.	1.117322	0.15028	11.53	0.92368043482850226	0.21773	0.14038	0.18189	N	AEFGBI	0.253085	0.37265	N	-0.97779777945423	0.09078	0.4282351	-0.912168101623188	0.11806	0.6037418	0.747455890449706	0.23307	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.34	3.49	0.39065	0.861000	0.27540	0.542000	0.19343	-0.165000	0.11486	0.000000	0.06391	0.000000	0.08366	0.986000	0.61781	0.2334:0.701:0.0:0.0656	10.844	0.45938	789	0.46346	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1351.98	42	chr14	39247626	.	C	G	1351.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.850e-01;DP=855;ExcessHet=0.0000;FS=1.451;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=0.929;SOR=0.564	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1131	20	0	1	0
chr14	39247959	39247959	A	G	exonic	MIA2	.	nonsynonymous SNV	MIA2:NM_001329214:exon4:c.A1385G:p.Y462C	.	.	431	1089	2	0	0	2	0.000917431	.	.	3289206	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.002	B	0.003	B	0.557	N	1.000	N	1.79	L	3.28	T	-1.018	T	0.102	T	0.175	1.234	10.01	1.79	0.279	0.198	4.709	0.018	0.00868791686634	7.7e-05	.	8.326e-06	9.956e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs140072290	8.993e-06	1.163e-05	1.1e-05	6.959e-06	0.0003	5.02e-06	3.87e-06	0.0001	0.0001	0.0003	0	0	0	0	0	1.805e-06	1.676e-05	1.226e-05	0.0001	0.0001	0.0001	0.0001	0.0004	8.664e-05	7.256e-05	0.0003	0.0002	0.0004	0	0.0001	0	0	0	0	1.47e-05	0	0	0.007	0.63226	D	0.146	0.32891	T	0.002	0.09854	B	0.003	0.08700	B	0.557473	0.05405	N	1.346810	1	0.08975	N	1.65	0.42232	L	3.28	0.44065	T	-1.92	0.44657	N	0.186	0.27197	-1.0184	0.24236	T	0.102	0.37669	T	9	0.0501799	0.04714	T	0.008688	0.22952	T	0.018	0.03083	.	.	0.210429274316	0.20668	0.08192213510084377	0.08127	0.164205623222	0.18528	0.327414035797	0.14543	T	0.074852	0.35037	T	-0.485373	0.00689	T	-0.566231	0.15796	T	0.0381222479045391	0.03354	T	0.794321	0.43637	T	0.062140252	0.12947	0.066691265	0.13697	0.062140252	0.12947	0.066691265	0.13697	-6.027	0.49471	T	.	.	0.069	0.06990	B	.;.;.	.;.;.	1.514975	0.19458	14.27	0.9763366745375972	0.35034	0.04937	0.10695	N	AEFGBI	0.236059	0.35856	N	-0.823974508997519	0.12699	0.6206739	-0.812544312706616	0.14192	0.7402736	0.457940626167549	0.20598	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	4.18	1.79	0.23992	0.184000	0.16748	3.334000	0.37651	-0.113000	0.14837	0.053000	0.21524	0.989000	0.31174	0.965000	0.52897	0.496:0.2203:0.2837:0.0	4.709	0.12244	789	0.46346	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	863.98	42	chr14	39247959	.	A	G	863.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.108;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=1.05;SOR=0.698	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1131	20	0	1	0
chr14	39399688	39399688	T	C	exonic	FBXO33	.	nonsynonymous SNV	FBXO33:NM_203301:exon4:c.A1496G:p.Q499R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.985	D	0.643	P	0.000	D	1.000	D	1.1	L	1.44	T	-1.111	T	0.093	T	0.584	0.435	6.363	5.97	2.288	5.764	16.461	0.135	0.0148223472366	.	.	8.383e-06	9.954e-05	0	0	0	0	0	0	1.29e-05	2	154602	rs769859132	1.573e-05	1.573e-05	2.178e-05	9.626e-06	2.068e-05	1.048e-05	8.75e-06	1.377e-05	1.15e-05	0	0	0	0	0	0	2.068e-05	0	0	1.971e-05	1.97e-05	1.284e-05	2.689e-05	7.236e-05	5.24e-06	2.45e-06	1.919e-05	1.032e-05	7.236e-05	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.336	0.18232	T	0.985	0.61118	D	0.643	0.52216	P	0.000000	0.84330	D	0.052608	0.99959	0.81001	D	1.61	0.41143	L	1.44	0.32722	T	-1.03	0.27052	N	0.368	0.40963	-1.1109	0.02993	T	0.093	0.35471	T	9	0.27421552	0.44974	T	0.014822	0.35183	T	0.135	0.36572	0.395	0.42099	0.134007934775	0.12933	0.2756024256079767	0.27473	0.392744924576	0.40454	0.566138386726	0.48133	T	0.021883	0.16964	T	-0.171801	0.24963	T	-0.303029	0.44404	T	0.164894638504578	0.18226	T	0.819518	0.47762	T	0.33350295	0.55756	0.22621511	0.47592	0.33350295	0.55756	0.22621511	0.47591	-3.488	0.16265	T	.	.	0.194	0.41387	B	.	.	3.287065	0.45060	22.1	0.87826438783703153	0.17511	0.94706	0.62050	D	AEFBI	0.541054	0.55736	D	0.502058047284081	0.67212	5.05156	0.574422757462348	0.73110	5.917424	0.999971747371523	0.50053	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.636168	0.56350	0	.	.	5.97	5.97	0.96935	5.770000	0.68526	6.221000	0.55125	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	16.461	0.83887	623	0.65786	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1305.98	33	chr14	39399688	.	T	C	1305.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.870e-01;DP=813;ExcessHet=0.0000;FS=0.721;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=-1.620e+00;SOR=0.573	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1134	20	0	1	0
chr14	44504921	44504956	CTCCTCAGCTGGTAGAGACTGAACTTCAGCAGGGGC	-	exonic	FSCB	.	nonframeshift deletion	FSCB:NM_032135:exon1:c.2032_2067del:p.A678_E689del,	.	.	.	.	.	.	.	.	.	.	.	702872	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0205	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs866319674	0.0003	0.0004	0.0004	0.0003	0.0106	0.0003	0.0003	0.0097	0.0093	0.0106	0.0010	0	0	0	0.0013	2.068e-05	0.0007	2.32e-05	0.0061	0.0082	0.0063	0.0059	0.0215	0.0058	0.0056	0.0203	0.0198	0.0215	0	0.0020	0	0	0	0.0103	8.844e-05	0.0048	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1176.94	74	chr14	44504920	.	TCTCCTCAGCTGGTAGAGACTGAACTTCAGCAGGGGC	T	1176.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.836;DP=1464;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.12;MQRankSum=0.940;QD=11.54;ReadPosRankSum=0.146;SOR=0.690	GT:AD:DP:GQ:PL	0/0:102,0:102:99:0,120,1800	20	0	1	0
chr14	44506633	44506633	G	A	exonic	FSCB	.	nonsynonymous SNV	FSCB:NM_032135:exon1:c.C355T:p.P119S,	.	.	416	1105	1	0	0	1	0.000452284	.	.	725667	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.27	T	0.42	B	0.09	B	.	.	1.000	N	1.67	L	1.98	T	-1.030	T	0.022	T	0.089	-0.945	0.350	-5.27	-1.001	-0.605	0.921	0.029	0.00268792966622	0.0025	0.00279553	0.0008	0.0063	0.0010	0	0	0.0003	0.0022	6.058e-05	0.0008473	131	154602	rs36083807	0.0006	0.0006	0.0006	0.0005	0.0099	0.0005	0.0005	0.0081	0.0078	0.0089	0.0014	0	0	3.745e-05	0.0099	0.0003	0.0010	0.0001	0.0024	0.0024	0.0025	0.0023	0.0077	0.0022	0.0021	0.0070	0.0067	0.0077	0	0.0016	0	0	9.432e-05	0.0102	0.0002	0.0028	0.0002	0.33	0.13131	T	0.764	0.04571	T	0.42	0.35330	B	0.09	0.29851	B	.	.	.	.	1	0.08975	N	1.525	0.38595	L	1.98	0.21865	T	-2.04	0.46842	N	0.053	0.02462	-1.0303	0.20357	T	0.022	0.09193	T	9	0.005158633	0.00112	T	0.002688	0.05521	T	0.029	0.06676	.	.	0.0611884634855	0.05136	0.00455728974804598	0.00428	0.0191861543644	0.01871	0.227748081088	0.01805	T	0.001705	0.01130	T	-0.674705	0.00052	T	-0.737238	0.04007	T	0.0072205042715858	0.00083	T	0.452355	0.12822	T	0.021271452	0.00721	0.05503372	0.09579	0.021271452	0.00720	0.05503372	0.09578	-2.673	0.07079	T	.	.	0.098	0.16143	B	.	.	-0.412915	0.02164	0.211	0.54308518838639153	0.05112	0.00595	0.02663	N	AEFI	0.025567	0.01771	N	-0.971919231968571	0.09207	0.4348007	-1.13395775049252	0.07059	0.3419916	5.03892418096173E-4	0.07176	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.99	-5.27	0.02551	-0.579000	0.05927	-0.495000	0.08836	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.3808:0.1017:0.2304:0.2871	0.921	0.01232	948	0.11499	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3282.98	44	chr14	44506633	.	G	A	3282.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.074e+00;DP=1211;ExcessHet=0.0000;FS=0.492;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.79;ReadPosRankSum=0.109;SOR=0.752	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr14	44962572	44962572	C	T	exonic	TOGARAM1	.	nonsynonymous SNV	TOGARAM1:NM_001308120:exon1:c.C151T:p.R51C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.007	N	1.000	D	0.695	N	0.38	T	-0.679	T	0.212	T	0.787	3.380	17.40	4.88	2.526	3.252	13.404	0.249	0.0221902037615	.	.	4.985e-05	0	0	0	0	1.51e-05	0	0.0003	3.88e-05	6	154602	rs764620129	2.805e-05	2.805e-05	9.53e-06	4.676e-05	0.0002	2.087e-05	1.878e-05	0.0002	0.0001	0	0	0	0	0	0.0002	1.529e-05	3.312e-05	0.0002	2.628e-05	2.627e-05	2.569e-05	2.69e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0	0	9.422e-05	0	2.939e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.006701	0.31850	N	0.146541	0.998806	0.45475	D	.	.	.	0.38	0.57575	T	-1.74	0.41239	N	0.547	0.67477	-0.6787	0.61432	T	0.212	0.57267	T	10	0.37061948	0.53446	T	0.02219	0.45053	T	0.249	0.55752	0.449	0.50957	0.582828786496	0.57955	0.5031628761113948	0.50238	0.725041109475	0.62425	0.618584513664	0.55529	T	0.012453	0.11750	T	0.0233948	0.54838	T	0.0920208	0.76379	D	0.39528900384903	0.28765	T	0.886311	0.61284	D	0.2883503	0.51839	0.31176355	0.57181	0.2883503	0.51839	0.31176355	0.57180	-4.3	0.28177	T	.	.	0.161	0.35519	B	.;.	.;.	4.999898	0.82956	27.9	0.99917617915804768	0.98518	0.49811	0.28519	N	AEFDGBHCI	0.502214	0.53473	D	0.518198644659557	0.68168	5.179997	0.527698874366196	0.69863	5.421099	0.999999999997987	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	4.88	4.88	0.63131	3.287000	0.51438	5.916000	0.51093	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	13.404	0.60347	801	0.44448	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1186.98	41	chr14	44962572	.	C	T	1186.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.64;DP=812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.60;ReadPosRankSum=1.65;SOR=0.650	GT:AD:DP:GQ:PL	0/1:67,45:112:99:1201,0,1706	20	0	1	0
chr14	45110121	45110121	A	G	exonic	PRPF39	.	nonsynonymous SNV	PRPF39:NM_017922:exon9:c.A1204G:p.I402V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.007	B	0.008	B	0.010	N	0.567	N	-0.41	N	1.42	T	-1.040	T	0.033	T	0.156	0.019	4.110	5.53	2.107	6.191	9.813	0.110	0.00308680563453	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1215793720	2.053e-06	2.052e-06	1.362e-06	2.751e-06	3.479e-05	5.5e-07	1.5e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	0	3.479e-05	6.569e-06	6.562e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.94	0.02196	T	1.0	0.01155	T	0.001	0.07471	B	0.008	0.13708	B	0.010303	0.29978	N	0.399964	0.566811	0.31211	N	0	0.06538	N	1.42	0.33189	T	0.31	0.04022	N	0.171	0.18239	-1.0395	0.17465	T	0.033	0.13986	T	10	0.08366269	0.13942	T	0.003087	0.06696	T	0.110	0.31079	0.634	0.77032	0.382607109125	0.37878	0.1606170558172802	0.15982	0.385509509165	0.39847	0.334250211716	0.15574	T	0.002972	0.02370	T	-0.320732	0.06838	T	-0.516958	0.20602	T	0.0974087977643772	0.12070	T	0.823318	0.48387	T	0.026965689	0.01824	0.041668896	0.04789	0.026965689	0.01823	0.041668896	0.04788	-4.117	0.25540	T	.	.	0.053	0.00264	B	.	.	2.420860	0.31130	18.65	0.8786928459168879	0.17542	0.96817	0.71098	D	AEFBI	0.606916	0.59708	D	-0.217442741401954	0.32419	1.828028	0.0483298925693851	0.41991	2.532162	0.99798301418544	0.36275	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	6.180000	0.71914	11.216000	0.89583	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9223:0.0:0.0777:0.0	9.813	0.40001	828	0.39726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	927.98	35	chr14	45110121	.	A	G	927.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.640e-01;DP=780;ExcessHet=0.0000;FS=2.866;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.273;SOR=0.780	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1102	20	0	1	0
chr14	45137087	45137087	C	T	exonic	FANCM	.	nonsynonymous SNV	FANCM:NM_001308133:exon2:c.C527T:p.T176I	.	.	1	1508	13	0	0	13	0.00429185	.	.	320546	not_provided|not_specified|Spermatogenic_failure_28|Fanconi_anemia|FANCM-related_disorder	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0054732,MedGen:C4748117,OMIM:618086|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.22	T	0.003	B	0.008	B	0.052	N	1.000	N	1.74	L	2.42	T	-1.050	T	0.026	T	0.174	1.314	10.31	3.13	1.209	-0.802	6.779	0.030	.	0.0035	0.00139776	0.0044	0.0004	0.0029	0	0.0141	0.0056	0.0055	0.0015	0.0041526	642	154602	rs77374493	0.0045	0.0045	0.0045	0.0044	0.0056	0.0044	0.0043	0.0046	0.0046	0.0006	0.0023	0.0004	0	0.0122	0.0056	0.0047	0.0044	0.0018	0.0036	0.0036	0.0035	0.0038	0.0048	0.0034	0.0033	0.0044	0.0042	0.0007	0	0.0027	0.0006	0	0.0136	0.0034	0.0048	0.0038	0.0010	0.193	0.20912	T	0.242	0.27145	T	0.0	0.11197	B	0.003	0.13708	B	0.051746	0.22954	N	0.507562	0.999922	0.19486	N	1.115	0.28702	L	2.42	0.15376	T	-3.37	0.66665	D	0.05	0.02179	-1.0502	0.14341	T	0.026	0.11176	T	10	0.008818626	0.00200	T	.	.	.	0.030	0.07022	.	.	0.415947407303	0.41207	0.1712033457664659	0.17040	0.0926538183713	0.10463	0.387260079384	0.23282	T	0.120295	0.44244	T	-0.611287	0.00124	T	-0.649481	0.08990	T	0.0135318982733454	0.00248	T	0.675032	0.28342	T	0.20840895	0.43077	0.21030024	0.45411	0.1945151	0.41205	0.20614702	0.44814	-6.667	0.51561	T	.	.	0.074	0.21125	B	.;.;.	.;.;.	1.413284	0.18288	13.65	0.96756622761729538	0.30983	0.07924	0.13911	N	AEFGBI	0.079030	0.15956	N	-0.418296970843012	0.24827	1.343377	-0.334980538106223	0.26977	1.493823	0.999968038709869	0.48965	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.627883	0.49187	0	.	.	5.39	3.13	0.35090	-0.775000	0.04785	-0.032000	0.12782	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.997000	0.79791	0.4238:0.4845:0.0:0.0918	6.779	0.22823	801	0.44448	.;Helicase/UvrB, N-terminal|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	309.98	33	chr14	45137087	.	C	T	309.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=735;ExcessHet=0.0000;FS=1.430;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.95;ReadPosRankSum=-7.750e-01;SOR=0.992	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1315	20	0	1	0
chr14	45175794	45175794	G	T	exonic	FANCM	.	nonsynonymous SNV	FANCM:NM_001308133:exon13:c.G2962T:p.G988C	.	.	0	1518	4	0	0	4	0.00131579	.	.	241837	not_provided|Fanconi_anemia|not_specified|FANCM-related_disorder	MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.001	B	0.003	B	0.026	N	1.000	N	0.895	L	2.76	T	-1.021	T	0.014	T	0.113	-0.752	0.811	-0.457	-0.061	-0.089	4.677	0.030	.	0.0037	0.00499201	0.0014	0.0156	0.0006	0	0	0	0	6.061e-05	0.001313	203	154602	rs77532752	0.0004	0.0004	0.0005	0.0003	0.0149	0.0004	0.0004	0.0138	0.0134	0.0149	0.0008	0	0	0	0.0005	2.698e-06	0.0009	4.638e-05	0.0037	0.0037	0.0038	0.0037	0.0129	0.0035	0.0034	0.0120	0.0117	0.0129	0	0.0012	0	0	0	0.0034	2.942e-05	0.0028	0.0002	0.061	0.37326	T	0.116	0.36901	T	0.001	0.07471	B	0.003	0.08700	B	0.026000	0.01641	N	1.940980	1	0.08975	N	0.55	0.14455	N	2.76	0.18875	T	-2.11	0.50175	N	0.136	0.28849	-1.0210	0.23389	T	0.014	0.05705	T	10	0.0043438375	0.00088	T	.	.	.	0.030	0.07022	.	.	0.397838977388	0.39401	0.41709074337779184	0.41625	0.0920060912428	0.10386	0.226987525821	0.01753	T	0.252386	0.62277	T	-0.654553	0.00068	T	-0.700672	0.05789	T	0.000781367293533466	0.00007	T	0.572443	0.21465	T	0.1622571	0.36289	0.076701425	0.17015	0.12618388	0.29562	0.11162583	0.26927	-4.481	0.31149	T	.	.	0.109	0.32756	B	.;.;.	.;.;.	0.113837	0.05128	1.654	0.56016743423962478	0.05463	0.02756	0.07444	N	AEFBI	0.048297	0.08225	N	-1.14097014127243	0.05930	0.271651	-1.1815223663894	0.06218	0.2986347	0.0384491583654429	0.14347	0.615465	0.37627	0	0.588066	0.40923	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.76	-0.457	0.11578	0.098000	0.15027	0.200000	0.15841	-0.202000	0.08738	0.000000	0.06391	0.002000	0.18203	0.007000	0.07825	0.4254:0.0:0.4293:0.1454	4.677	0.12101	820	0.40914	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	1611.98	34	chr14	45175794	.	G	T	1611.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.459e+00;DP=877;ExcessHet=0.0000;FS=2.086;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.54;ReadPosRankSum=0.823;SOR=0.509	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1073	20	0	1	0
chr14	45185264	45185264	A	C	exonic	FANCM	.	nonsynonymous SNV	FANCM:NM_001308133:exon17:c.A4485C:p.E1495D	.	.	49	1471	2	0	0	2	0.000679348	.	.	241840	Fanconi_anemia|FANCM-related_disorder|not_provided|not_specified	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.792	P	0.138	B	0.216	N	1.000	N	1.625	L	-1.23	T	-0.945	T	0.101	T	0.118	1.528	11.06	0.558	-0.136	0.192	5.418	0.255	.	0.0036	0.00439297	0.0014	0.0153	0.0005	0	0	0	0	6.678e-05	0.0012225	189	154602	rs113986680	0.0004	0.0004	0.0005	0.0003	0.0142	0.0004	0.0004	0.0131	0.0127	0.0142	0.0007	0	0	0	0.0005	2.716e-06	0.0009	4.673e-05	0.0036	0.0036	0.0036	0.0035	0.0123	0.0033	0.0032	0.0115	0.0111	0.0123	0	0.0012	0	0	0	0.0034	2.94e-05	0.0028	0.0002	0.102	0.37118	T	0.29	0.27943	T	0.792	0.44688	P	0.138	0.33406	B	0.216383	0.16242	N	0.625780	0.980936	0.25076	N	2.205	0.62170	M	-1.23	0.78860	T	-1.4	0.34596	N	0.305	0.34444	-0.9452	0.41781	T	0.101	0.37443	T	10	0.007030189	0.00160	T	.	.	.	0.255	0.56562	0.153	0.05648	0.678621362334	0.67589	0.1002294309425725	0.09953	0.17011552983	0.19178	0.310345709324	0.11959	T	0.055681	0.30076	T	-0.472658	0.00818	T	-0.44004	0.28803	T	0.0265657143338258	0.01483	T	0.655934	0.26825	T	0.06486956	0.13805	0.060166523	0.11413	0.0624157	0.13032	0.06825543	0.14230	-2.159	0.03846	T	.	.	0.118	0.24088	B	.;.;.	.;.;.	1.203153	0.15953	12.22	0.99205258423628617	0.55412	0.73895	0.36144	D	ALL	0.151863	0.27643	N	-0.654461082751842	0.17330	0.8908613	-0.64812780459406	0.18263	0.9749047	0.999150595447767	0.38592	0.615465	0.37627	0	0.593476	0.48661	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.77	0.558	0.16454	0.087000	0.14801	0.750000	0.21229	-1.799000	0.00627	0.980000	0.35271	0.964000	0.29435	0.055000	0.15596	0.6063:0.0:0.2751:0.1186	5.418	0.15681	829	0.39537	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	1000.98	33	chr14	45185264	.	A	C	1000.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.559e+00;DP=793;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.40;ReadPosRankSum=2.11;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1167	20	0	1	0
chr14	45224519	45224519	T	-	exonic	MIS18BP1	.	frameshift deletion	MIS18BP1:NM_018353:exon11:c.2068delA:p.S690Vfs*10,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	.	0.0040	0.0024	0.0008	0.0032	0	0.0054	0.0034	0.0034	0.0036869	570	154602	rs758089467	9.752e-05	0.0026	9.356e-05	0.0001	0.0008	8.401e-05	7.936e-05	0.0006	0.0005	0.0002	0.0008	0.0002	7.624e-05	0.0001	0	5.079e-05	6.697e-05	0.0003	1.981e-05	8.545e-05	2.581e-05	1.352e-05	4.837e-05	5.27e-06	2.46e-06	8.02e-06	3e-06	4.837e-05	0	0	0	0	9.593e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	52.94	34	chr14	45224518	.	CT	C	52.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.798e+00;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.45;ReadPosRankSum=2.00;SOR=0.656	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1250	20	0	1	0
chr14	45226775	45226775	G	T	exonic	MIS18BP1	.	nonsynonymous SNV	MIS18BP1:NM_018353:exon10:c.C1808A:p.T603K,	.	.	877	636	8	1	0	10	0.00780031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.863	P	0.979	N	0.515	N	1.5	L	2.02	T	-0.989	T	0.083	T	0.253	2.131	13.08	2.94	0.610	1.568	5.273	0.058	.	7.8e-05	0.00399361	0.0057	0	0	0	0	0.0013	0.0039	0.0164	0.0014295	221	154602	rs144591732	0.0012	0.0013	0.0007	0.0017	0.0156	0.0012	0.0011	0.0148	0.0145	3.758e-05	0.0003	0.0020	0	0	0.0034	0.0003	0.0015	0.0156	0.0010	0.0010	0.0006	0.0015	0.0168	0.0009	0.0008	0.0138	0.0128	7.223e-05	0	0.0004	0.0032	0	0	0.0103	0.0007	0.0014	0.0168	0.021	0.49117	D	0.051	0.47828	T	0.998	0.73220	D	0.863	0.61398	P	0.979405	0.07830	N	1.011430	0.514574	0.31619	N	1.78	0.46185	L	2.02	0.21119	T	-1.35	0.33598	N	0.131	0.12627	-0.9885	0.32978	T	0.083	0.32671	T	10	0.0066874623	0.00152	T	.	.	.	0.058	0.16647	.	.	0.344017737713	0.34012	0.17169480644439244	0.17089	0.0285527149791	0.02937	0.577752172947	0.49770	T	0.002494	0.01884	T	-0.494596	0.00613	T	-0.470906	0.25418	T	0.0670183516689708	0.08227	T	0.412859	0.10744	T	0.07779437	0.17678	0.10648939	0.25619	0.07779437	0.17678	0.10648939	0.25619	-2.134	0.03732	T	.	.	0.1	0.17146	B	.	.	2.316029	0.29649	18.19	0.9555788179128617	0.27231	0.69889	0.34367	D	AEFBI	0.100684	0.20239	N	0.261643419797473	0.54217	3.587877	0.193644771548225	0.49497	3.152246	0.00906498830387248	0.11790	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	3.91	2.94	0.33188	1.593000	0.36297	1.219000	0.24962	0.590000	0.31872	0.987000	0.36337	0.910000	0.28117	0.990000	0.65344	0.2161:0.0:0.7839:0.0	5.273	0.14948	788	0.46569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1495.11	35	chr14	45226775	.	G	T	1495.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.503;DP=815;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=0.424;SOR=0.664	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1132	19	0	2	0
chr14	45231234	45231234	T	C	exonic	MIS18BP1	.	nonsynonymous SNV	MIS18BP1:NM_018353:exon8:c.A1501G:p.I501V,	.	.	.	.	.	.	.	.	.	.	.	3285962	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.955	N	1.000	N	-0.06	N	2.29	T	-0.972	T	0.014	T	0.015	-2.495	0.003	-0.766	-0.189	-0.812	0.728	0.034	0.00129813059012	.	.	6.596e-05	0	0	0	0	1.5e-05	0	0.0004	5.17e-05	8	154602	rs762041031	2.737e-05	2.736e-05	1.362e-05	4.126e-05	0.0003	2.063e-05	1.816e-05	0.0002	0.0001	0	0	0	0	0	0.0002	1.439e-05	1.657e-05	0.0003	3.284e-05	3.283e-05	2.568e-05	4.033e-05	0.0002	1.26e-05	7.98e-06	2.261e-05	9.07e-06	2.412e-05	0	0.0001	0	0	0	0	1.47e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.955193	0.07682	N	1.019820	1	0.08975	N	0.26	0.09897	N	2.29	0.17113	T	-0.01	0.07155	N	0.074	0.04790	-0.9721	0.36755	T	0.014	0.05753	T	10	0.029276848	0.01055	T	0.001298	0.01809	T	0.034	0.08419	.	.	0.126345400529	0.12197	0.13789195703558432	0.13713	0.0247330281271	0.02516	0.319984138012	0.13418	T	0.001966	0.01375	T	-0.658426	0.00064	T	-0.861594	0.00826	T	0.0414845811438304	0.03960	T	0.426857	0.11480	T	0.019370545	0.00467	0.0185041	0.00057	0.019370545	0.00466	0.0185041	0.00057	-3.586	0.17654	T	.	.	0.079	0.07177	B	.	.	-0.937155	0.00866	0.031	0.13809242625519849	0.00284	0.02408	0.06816	N	AEFBI	0.031810	0.03473	N	-1.343848976368	0.03189	0.1420399	-1.33051234150317	0.04041	0.1897805	0.0016924132055061	0.08790	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.86	-0.766	0.10465	-0.832000	0.04507	-1.111000	0.06297	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.1611:0.1952:0.1668:0.4768	0.728	0.00891	795	0.45444	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2862.08	35	chr14	45231234	.	T	C	2862.08	.	AC=2;AF=0.048;AN=42;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.91;SOR=0.888	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1234	20	1	0	0
chr14	49586032	49586032	C	T	exonic	RPS29	.	nonsynonymous SNV	RPS29:NM_001030001:exon2:c.G80A:p.R27Q	Diamond-Blackfan anemia 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.083	B	0.016	B	0.000	D	1.000	D	.	.	.	.	-0.980	T	0.123	T	0.722	3.761	19.09	6.06	2.882	5.575	19.185	0.174	0.103728851759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	0	1.377e-06	9e-07	0	0	.	.	0	0	0	0	0	0	9e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.485	0.08115	T	0.495	0.15355	T	0.003	0.11197	B	0.006	0.12133	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	-1.09	0.32590	N	0.78	0.79118	-0.9797	0.35071	T	0.123	0.42589	T	8	0.3362448	0.50768	T	0.103729	0.77792	D	0.174	0.44019	0.42	0.46200	0.227934060464	0.22382	0.8578765483497026	0.85750	1.42041158523	0.85606	0.835893034935	0.87468	D	0.426055	0.77597	T	0.188761	0.72849	D	0.0333663	0.72496	D	0.981718182563782	0.74070	D	0.80142	0.46084	T	0.6506185	0.75397	0.4888436	0.70423	0.6506185	0.75398	0.4888436	0.70423	-7.582	0.63377	D	0.09475712425302887	0.06377	0.237	0.64062	B	.;.;.;.;.;.	.;.;.;.;.;.	4.711783	0.75700	26.4	0.99759148360519512	0.84931	0.72858	0.35649	D	ALL	0.870239	0.79113	D	0.0403471399827219	0.43701	2.657809	0.25238241552367	0.52785	3.451043	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	6.06	6.06	0.98340	7.404000	0.79226	7.548000	0.60216	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:1.0:0.0:0.0	19.185	0.93625	802	0.44336	.;Ribosomal protein S14, conserved site;Ribosomal protein S14, conserved site;Ribosomal protein S14, conserved site;Ribosomal protein S14, conserved site;Ribosomal protein S14, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	64.11	40	chr14	49586032	.	C	T	64.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.501e+00;DP=1431;ExcessHet=0.1072;FS=121.785;InbreedingCoeff=-0.0498;MLEAC=2;MLEAF=0.048;MQ=59.98;MQRankSum=0.00;QD=0.19;ReadPosRankSum=2.54;SOR=8.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,120,1800	19	0	2	0
chr14	49607898	49607898	T	A	exonic	LRR1	.	nonsynonymous SNV	LRR1:NM_152329:exon3:c.T781A:p.L261M,	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.998	D	0.000	D	1.000	D	3.15	M	1.65	T	-0.730	T	0.214	T	0.693	3.095	16.34	3.54	0.469	0.588	9.006	0.333	0.0305055834414	.	.	4.133e-05	0	0	0	0	3.003e-05	0	0.0002	3.23e-05	5	154602	rs781311885	1.506e-05	1.505e-05	1.362e-05	1.652e-05	0.0002	9.86e-06	8.42e-06	0.0001	9.455e-05	0	0	0	0	0	0	4.499e-06	1.657e-05	0.0002	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.103	0.30097	T	0.014	0.62352	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999978	0.81001	D	2.825	0.82220	M	1.65	0.27650	T	-1.47	0.35991	N	0.824	0.81957	-0.7299	0.58969	T	0.214	0.57494	T	10	0.6525771	0.69688	D	0.030506	0.52803	D	0.333	0.65522	0.515	0.61459	0.401042353794	0.39719	0.5008727393091121	0.50009	0.577624100393	0.53677	0.51382625103	0.40758	T	0.086177	0.37667	T	-0.128776	0.31694	T	-0.219154	0.52818	T	0.428757756948471	0.30015	T	0.733627	0.34942	T	0.20456639	0.42571	0.16144137	0.37551	0.20456639	0.42570	0.16144137	0.37550	-7.111	0.54839	T	.	.	0.204	0.42920	B	.	.	3.230762	0.44060	21.9	0.99445408331715957	0.64971	0.95175	0.63714	D	AEFBI	0.425660	0.49033	N	0.51730566394863	0.68112	5.172719	0.424133418055681	0.63073	4.53393	0.999023279786998	0.38237	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.98	3.54	0.39650	0.596000	0.23744	0.939000	0.22838	0.665000	0.62972	0.998000	0.41325	1.000000	0.68203	0.996000	0.76049	0.0:0.3729:0.0:0.6271	9.006	0.35273	775	0.48401	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1988.98	35	chr14	49607898	.	T	A	1988.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.71;DP=836;ExcessHet=0.0000;FS=4.493;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.30;ReadPosRankSum=-1.468e+00;SOR=0.812	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1072	20	0	1	0
chr14	49621367	49621367	G	T	exonic	MGAT2	.	nonsynonymous SNV	MGAT2:NM_002408:exon1:c.G99T:p.K33N,	Congenital disorder of glycosylation, type IIa, Autosomal recessive	.	1	1490	29	2	0	33	0.0109525	.	.	215480	not_provided|not_specified|Inborn_genetic_diseases|MGAT2-congenital_disorder_of_glycosylation|MGAT2-related_disorder	MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008908,MedGen:C2931008,OMIM:212066,Orphanet:79329|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.965	D	0.445	B	0.000	D	0.998	D	1.04	L	-2.59	D	-0.063	T	0.524	D	0.257	3.859	19.60	4.06	0.844	2.765	9.356	0.373	0.544958027461	0.0015	0.000798722	0.0017	0.0002	0.0009	0.0001	0	0.0024	0.0037	0.0014	0.001533	237	154602	rs140584714	0.0017	0.0017	0.0017	0.0018	0.0071	0.0017	0.0017	0.0054	0.0048	5.981e-05	0.0018	0.0010	0	5.761e-05	0.0071	0.0019	0.0020	0.0018	0.0014	0.0014	0.0014	0.0015	0.0022	0.0013	0.0012	0.0020	0.0018	0.0003	0	0.0020	0.0006	0	0	0.0034	0.0022	0.0047	0.0014	0.0	0.91255	D	0.156	0.31833	T	0.965	0.56013	D	0.445	0.45921	B	0.000001	0.84330	D	0.053342	0.997754	0.44161	D	2.125	0.59049	M	-2.59	0.89822	D	-0.89	0.24026	N	0.282	0.31925	-0.0634	0.80921	T	0.524	0.82254	D	10	0.012802005	0.00274	T	0.544958	0.95779	D	0.373	0.69188	0.245	0.17984	0.725540115838	0.72311	0.6578675173053016	0.65723	0.733321655826	0.62832	0.880674540997	0.94051	D	0.192977	0.54829	T	-0.245732	0.14626	T	-0.131301	0.60863	T	0.119549588557019	0.14386	T	0.577942	0.20808	T	0.5429809	0.69563	0.49862787	0.71010	0.57498664	0.71335	0.57763696	0.75527	-3.435	0.15532	T	.	.	0.400	0.59555	A	.	.	3.639591	0.51593	23.1	0.99432648031156978	0.64325	0.85203	0.44315	D	AEFDGBHCI	0.487210	0.52605	N	0.244218681711827	0.53353	3.504599	0.293544181337501	0.55160	3.679517	0.999999999999648	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.88	4.06	0.46572	2.407000	0.44219	7.441000	0.58873	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.2222:0.0:0.7778:0.0	9.356	0.37327	828	0.39726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	1451.98	126	chr14	49621367	.	G	T	1451.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.663;DP=836;ExcessHet=0.0000;FS=4.423;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=0.875;SOR=1.085	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1129	20	0	1	0
chr14	49633744	49633744	C	T	exonic	DNAAF2	.	nonsynonymous SNV	DNAAF2:NM_001083908:exon1:c.G1406A:p.C469Y	Ciliary dyskinesia, primary, 10	.	0	1439	78	5	0	88	0.0296696	.	.	222368	not_specified|Primary_ciliary_dyskinesia_10|Primary_ciliary_dyskinesia	MedGen:CN169374|MONDO:MONDO:0012918,MedGen:C2675867,OMIM:612518,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	.	.	1.000	N	-0.55	N	2.6	T	-0.960	T	0.008	T	0.08	0.774	8.086	0.702	0.012	0.553	1.895	0.050	.	0.0048	0.0071885	0.0090	0.0012	0.0022	0	0.0111	0.0074	0.0079	0.0313	0.007225	1117	154602	rs150737854	0.0063	0.0063	0.0056	0.0070	0.0260	0.0062	0.0061	0.0251	0.0247	0.0005	0.0021	0.0098	5.063e-05	0.0077	0.0122	0.0052	0.0065	0.0260	0.0049	0.0049	0.0046	0.0053	0.0296	0.0046	0.0045	0.0257	0.0242	0.0008	0	0.0017	0.0107	0	0.0108	0.0204	0.0056	0.0061	0.0296	0.668	0.06606	T	0.086	0.41405	T	0.0	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	2.35	0.16217	T	-1.81	0.43149	N	0.097	0.09490	-0.9595	0.39274	T	0.008	0.02926	T	9	0.0032324195	0.00055	T	.	.	.	0.050	0.13987	.	.	0.0920862733494	0.08535	0.35599943241304355	0.35513	0.864262301777	0.69126	0.400492340326	0.25137	T	0.002222	0.01623	T	-0.708825	0.00032	T	-0.771358	0.02724	T	0.00361660849296668	0.00038	T	0.40306	0.12390	T	0.052102983	0.09669	0.13561133	0.32465	0.06224304	0.12978	0.13561133	0.32464	-5.743	0.44688	T	.	.	0.085	0.17827	B	.;.	.;.	0.204867	0.05893	2.332	0.78549104697280792	0.12349	0.02355	0.06716	N	AEFDGBHCI	0.100536	0.20212	N	-1.6742740473712	0.00937	0.04058094	-1.6234713818447	0.01518	0.06877383	0.99999999999542	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.77	0.702	0.17269	0.309000	0.19094	-0.505000	0.08779	-1.252000	0.01301	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2261:0.4659:0.1879:0.1201	1.895	0.03058	835	0.38313	PIH1 domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	943.98	35	chr14	49633744	.	C	T	943.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.459;DP=914;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.04;ReadPosRankSum=0.510;SOR=0.622	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1164	20	0	1	0
chr14	49768601	49768601	T	G	exonic	KLHDC2	.	nonsynonymous SNV	KLHDC2:NM_014315:exon1:c.T133G:p.F45V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.438	B	0.287	B	0.006	N	0.992	D	1.155	L	-0.28	T	-0.796	T	0.202	T	0.486	3.737	18.98	3.23	1.710	5.035	10.666	0.291	0.582130542064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.018	0.66756	D	0.192	0.35858	B	0.063	0.40572	B	0.006060	0.32309	N	0.329445	0.992379	0.41628	D	1.335	0.33326	L	-0.28	0.67543	T	-2.61	0.58248	D	0.489	0.53708	-0.7961	0.55374	T	0.202	0.55863	T	10	0.37115398	0.53485	T	0.582131	0.96259	D	0.291	0.61040	0.562	0.68229	0.708705863831	0.70616	0.7823465693998305	0.78185	0.567351061519	0.53003	0.918841600418	0.98234	D	0.310482	0.68244	T	0.0240885	0.54930	T	-0.203175	0.54345	T	0.946172118186951	0.62415	D	0.911709	0.70480	D	0.83709514	0.86401	0.58722585	0.76058	0.83709514	0.86402	0.58722585	0.76059	-10.935	0.79300	D	.	.	0.418	0.70678	A	.;.;.	.;.;.	4.104697	0.61238	24.3	0.97646768009865392	0.35114	0.86578	0.45888	D	ALL	0.775016	0.70856	D	-0.0580268916284365	0.39243	2.311177	0.0661768390241153	0.42860	2.599972	0.999999999999813	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.63	3.23	0.36150	4.880000	0.62799	4.588000	0.43946	0.558000	0.28311	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0915:0.0:0.9085	10.666	0.44929	859	0.33891	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	691.98	40	chr14	49768601	.	T	G	691.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.260e-01;DP=810;ExcessHet=0.0000;FS=3.026;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.23;ReadPosRankSum=-7.000e-03;SOR=1.141	GT:AD:DP:GQ:PL	0/1:80,31:111:99:706,0,2259	20	0	1	0
chr14	49840776	49840776	G	A	exonic	NEMF	.	nonsynonymous SNV	NEMF:NM_001301732:exon5:c.C448T:p.R150C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.973	D	0.000	D	1.000	D	3.065	M	0.87	T	-0.296	T	0.336	T	0.847	4.363	23.0	5.49	2.573	6.550	18.947	0.401	0.0988903544132	.	.	1.65e-05	0	0	0	0	3.003e-05	0	0	1.94e-05	3	154602	rs753742777	1.095e-05	1.094e-05	5.445e-06	1.65e-05	0.0001	6.48e-06	5.24e-06	5.396e-05	4.042e-05	5.975e-05	0	0	0	0	0	3.597e-06	1.656e-05	0.0001	1.315e-05	1.314e-05	0	2.693e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	6.554e-05	0	0	0	0	0	0	0.0002	0.001	0.91255	D	0.005	0.72224	D	0.999	0.77913	D	0.973	0.72923	D	0.000006	0.62929	D	0.108957	1	0.81001	D	3.39	0.91563	M	0.87	0.46412	T	-6.7	0.92476	D	0.79	0.78641	-0.2963	0.75088	T	0.336	0.70273	T	10	0.83453393	0.82611	D	0.09889	0.77017	D	0.401	0.71479	0.704	0.84054	0.403424677067	0.39955	0.7540117433322648	0.75348	0.951220964294	0.72649	0.736459374428	0.72452	T	0.38136	0.74370	T	0.0791231	0.61938	D	0.0785323	0.75479	D	0.945323526859283	0.62240	D	0.987601	0.97468	D	0.52081454	0.68306	0.5565833	0.74352	0.52081454	0.68307	0.5565833	0.74353	-11.645	0.83079	D	.	.	0.816	0.78017	P	.;.;.	.;.;.	5.703684	0.93131	33	0.99939817952440058	0.99767	0.95576	0.65273	D	AEFGBI	0.736535	0.68201	D	0.870239720401081	0.90226	10.30937	0.822908054501837	0.91339	10.83685	0.972815537523106	0.29402	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.49	5.49	0.81022	5.723000	0.68141	11.580000	0.93336	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	18.947	0.92599	864	0.32732	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1245.98	34	chr14	49840776	.	G	A	1245.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.469;DP=826;ExcessHet=0.0000;FS=3.061;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.96;ReadPosRankSum=0.441;SOR=0.972	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1367	20	0	1	0
chr14	50118700	50118700	T	C	exonic	SOS2	.	nonsynonymous SNV	SOS2:NM_006939:exon23:c.A3643G:p.T1215A,	Noonan syndrome 9, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	T	0.984	D	0.956	D	0.000	D	1.000	D	1.78	L	-1.03	T	-0.186	T	0.513	D	0.57	3.195	16.70	5.13	1.915	4.113	14.941	0.315	0.0298689566569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.16683	T	0.498	0.11299	T	0.984	0.60733	D	0.956	0.69739	D	0.000001	0.84330	D	0.096362	1	0.81001	D	1.905	0.50856	L	-1.16	0.78082	T	-1.33	0.33197	N	0.216	0.45803	-0.1864	0.78019	T	0.513	0.81738	D	10	0.19971803	0.35990	T	0.029869	0.52294	D	0.315	0.63694	0.134	0.03833	0.657723973783	0.65486	0.19360767584240793	0.19278	0.288324777556	0.31240	0.597126245499	0.52500	T	0.360439	0.72668	T	0.0625338	0.59931	T	-0.147951	0.59425	T	0.702032208442688	0.40816	D	0.756624	0.37993	T	0.15146124	0.34430	0.14836761	0.35075	0.15146124	0.34430	0.14836761	0.35074	-3.563	0.18495	T	0.1840803389161652	0.23860	0.085	0.32733	B	.;.	.;.	4.031690	0.59621	24.1	0.99619408766415929	0.75293	0.93801	0.59230	D	AEFDBI	0.447438	0.50308	N	0.397151473507348	0.61266	4.325524	0.40698342311687	0.62000	4.408281	0.999999999738258	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.13	5.13	0.69729	4.159000	0.57939	5.128000	0.47635	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	14.941	0.70643	443	0.79878	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1164.98	33	chr14	50118700	.	T	C	1164.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=797;ExcessHet=0.0000;FS=5.719;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=0.089;SOR=1.340	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1209	20	0	1	0
chr14	50342153	50342153	A	G	exonic	CDKL1	.	nonsynonymous SNV	CDKL1:NM_001282236:exon5:c.T436C:p.F146L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	1.000	D	2.1	M	-0.78	T	0.186	D	0.553	D	0.971	5.177	32	5.04	2.199	8.852	15.499	0.874	0.136081298739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-0.78	0.73631	T	-5.95	0.89152	D	0.973	0.98368	0.186	0.85680	D	0.553	0.83654	D	9	0.9208094	0.91435	D	0.136081	0.81856	D	0.874	0.96243	.	.	0.582387198248	0.57910	0.7899528488042598	0.78947	0.957538429204	0.72882	0.918046355247	0.98171	D	.	.	.	0.382047	0.88840	D	0.311008	0.88700	D	0.998335341875071	0.93860	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.996	0.95886	P	.;.	.;.	5.158857	0.86435	28.9	0.99904777601010752	0.97576	0.98602	0.84577	D	AEFBI	0.943114	0.94854	D	0.803184769460503	0.86304	8.842742	0.773009753022601	0.87864	9.37126	0.999999999990048	0.74766	0.653281	0.48532	0	0.633656	0.55848	0	0.658983	0.55881	0	0.669	0.65921	0	.	.	5.04	5.04	0.67293	8.918000	0.92345	11.057000	0.85382	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	15.499	0.75417	487	0.76954	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	889.98	42	chr14	50342153	.	A	G	889.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.115;DP=874;ExcessHet=0.0000;FS=0.804;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.35;ReadPosRankSum=0.195;SOR=0.807	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr14	50443957	50443957	C	G	exonic	MAP4K5	.	nonsynonymous SNV	MAP4K5:NM_006575:exon19:c.G1419C:p.K473N	.	.	431	1024	62	5	0	72	0.0339623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.999	D	0.991	D	0.000	D	1.000	D	.	.	-0.82	T	-0.261	T	0.422	T	0.135	2.996	15.99	2.67	0.295	0.487	8.648	0.343	.	0.0066	0.00539137	0.0140	0.0015	0.0161	0	0.0099	0.0169	0.0215	0.0192	0.0083958	1298	154602	rs35768475	0.0075	0.0075	0.0070	0.0080	0.0297	0.0074	0.0073	0.0261	0.0247	0.0011	0.0074	0.0311	5.063e-05	0.0052	0.0297	0.0068	0.0092	0.0142	0.0066	0.0067	0.0067	0.0066	0.0087	0.0063	0.0062	0.0081	0.0079	0.0013	0	0.0082	0.0276	0	0.0066	0.0272	0.0087	0.0147	0.0079	0.028	0.46129	D	0.174	0.30045	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999965	0.52935	D	.	.	.	-0.82	0.74053	T	-2.33	0.51646	N	0.299	0.33796	-0.2612	0.76055	T	0.422	0.76677	T	9	0.0042360723	0.00085	T	.	.	.	0.343	0.66488	0.419	0.46036	0.557661990297	0.55426	0.43804407463647294	0.43721	0.86124622319	0.68974	0.740895748138	0.73105	T	.	.	.	-0.425966	0.01569	T	-0.372971	0.36541	T	0.018003772233958	0.00525	T	0.891611	0.62654	D	0.33619976	0.55975	0.21171997	0.45611	0.33619976	0.55975	0.21171997	0.45610	-8.058	0.61465	D	.	.	0.605	0.69086	P	.	.	3.334347	0.45915	22.2	0.99806612893956281	0.89085	0.84800	0.43890	D	AEFBI	0.157098	0.28255	N	0.0455395370400721	0.43936	2.677043	0.0421915496554164	0.41695	2.509357	0.42880509924559	0.20353	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.44	2.67	0.30756	0.509000	0.22414	-0.199000	0.10963	0.599000	0.40250	1.000000	0.71638	0.245000	0.23879	1.000000	0.97212	0.0:0.6265:0.0:0.3735	8.648	0.33178	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1873.11	33	chr14	50443957	.	C	G	1873.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-6.640e-01;DP=846;ExcessHet=0.1072;FS=1.143;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.12;ReadPosRankSum=-8.850e-01;SOR=0.770	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	19	0	2	0
chr14	50635189	50635189	A	T	exonic	SAV1	.	nonsynonymous SNV	SAV1:NM_021818:exon5:c.T1146A:p.N382K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.0	B	0.0	B	0.000	N	0.990	D	-0.41	N	0.81	T	-1.099	T	0.052	T	0.16	1.580	11.24	3.45	0.452	0.927	5.634	0.007	0.00518398525593	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	3.429e-06	3.42e-06	1.364e-06	5.517e-06	4.5e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.5e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.30943	T	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	0.000027	0.55875	N	0.183273	0.990	0.41006	D	0.51	0.13489	N	0.81	0.48460	T	-0.92	0.24676	N	0.143	0.14338	-1.0992	0.04189	T	0.052	0.22192	T	10	0.08174291	0.13415	T	0.005184	0.13187	T	0.058	0.16647	0.319	0.29741	0.179529687257	0.17594	0.6385474858181067	0.63788	0.305345504322	0.32837	0.661500573158	0.61624	T	0.319744	0.69100	T	-0.193994	0.21674	T	-0.516436	0.20656	T	0.31642684340477	0.25677	T	0.760024	0.38453	T	0.057138305	0.11334	0.04888027	0.07354	0.057138305	0.11333	0.04888027	0.07353	-4.214	0.26954	T	.	.	0.366	0.57591	A	.	.	1.319259	0.17233	13.04	0.95217316447040856	0.26432	0.93223	0.57646	D	AEBI	0.439360	0.49836	N	-0.65374406251729	0.17351	0.8921131	-0.442416663679045	0.23765	1.297702	5.7426597413981E-4	0.07363	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.85	3.45	0.38602	0.936000	0.28536	2.920000	0.35558	-0.556000	0.04876	0.999000	0.42656	1.000000	0.68203	0.902000	0.43815	0.6955:0.1462:0.1584:0.0	5.634	0.16806	388	0.83355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	411.98	33	chr14	50635189	.	A	T	411.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.153e+00;DP=721;ExcessHet=0.0000;FS=1.228;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.41;ReadPosRankSum=-2.503e+00;SOR=0.960	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,1120	20	0	1	0
chr14	50635274	50635274	T	C	exonic	SAV1	.	nonsynonymous SNV	SAV1:NM_021818:exon5:c.A1061G:p.Y354C,	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.165	M	0.03	T	-0.249	T	0.396	T	0.951	3.137	16.49	4.63	1.015	7.982	11.009	0.597	0.163569778594	.	.	.	.	.	.	.	.	.	.	.	.	.	rs183580977	6.157e-06	6.156e-06	6.806e-06	5.5e-06	1.159e-05	2.9e-06	2.1e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	0	1.159e-05	1.971e-05	1.97e-05	2.569e-05	1.344e-05	4.409e-05	5.24e-06	2.45e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.275	0.64647	M	-0.04	0.63240	T	-8.23	0.96869	D	0.901	0.90138	-0.2490	0.76387	T	0.396	0.74894	T	10	0.8079663	0.80113	D	0.16357	0.84288	D	0.597	0.84019	0.602	0.73346	0.621259842134	0.61818	0.8391051411044915	0.83870	1.05013647246	0.76117	0.836032629013	0.87488	D	0.242277	0.94178	T	0.295435	0.82599	D	0.283449	0.87308	D	0.997708439826965	0.92212	D	0.970603	0.89432	D	0.9449438	0.95751	0.7593293	0.85780	0.9449438	0.95752	0.7593293	0.85781	-10.499	0.76842	D	.	.	0.970	0.91385	P	.;.	.;.	5.031576	0.83695	28.1	0.9969016520633438	0.79909	0.98343	0.81823	D	AEFDBIJ	0.935399	0.93019	D	0.479690613540591	0.65907	4.881699	0.431356718039966	0.63529	4.588376	0.666526977312295	0.22328	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.77	4.63	0.57175	7.958000	0.87417	7.842000	0.70572	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0728:0.0:0.9272	11.009	0.46868	388	0.83355	SARAH domain;SARAH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1655.98	33	chr14	50635274	.	T	C	1655.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.445e+00;DP=841;ExcessHet=0.0000;FS=2.023;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.82;ReadPosRankSum=-3.540e-01;SOR=0.523	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1575	20	0	1	0
chr14	50665189	50665189	C	A	exonic	SAV1	.	nonsynonymous SNV	SAV1:NM_021818:exon2:c.G525T:p.R175S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.791	P	0.19	B	0.000	D	1.000	D	1.04	L	0.84	T	-1.085	T	0.082	T	0.911	3.230	16.82	4.41	1.224	0.711	13.145	0.196	0.0214400189605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.91255	D	0.12	0.92824	T	0.791	0.44643	P	0.19	0.36341	B	0.000000	0.84330	D	0.000000	0.999992	0.58761	D	1.955	0.52871	M	0.84	0.48460	T	-0.41	0.54382	N	0.884	0.88246	-1.0853	0.06353	T	0.082	0.32324	T	10	0.2658546	0.44085	T	0.02144	0.44208	T	0.196	0.47777	0.446	0.50466	0.559365716769	0.55597	0.6479211810986603	0.64727	0.992791541148	0.74142	0.510502696037	0.40293	T	0.046076	0.75668	T	0.225492	0.76295	D	0.0861267	0.75987	D	0.815493166446686	0.47441	D	0.815518	0.47040	T	0.35506094	0.57458	0.22660713	0.47643	0.35506094	0.57458	0.22660713	0.47642	-2.774	0.07946	T	.	.	0.415	0.67831	A	.;.;.	.;.;.	2.861448	0.37813	20.6	0.99622893711877625	0.75533	0.94880	0.62650	D	AEFDGBI	0.416942	0.48519	N	-0.0279176716409118	0.40594	2.413402	0.0662916439542567	0.42866	2.600413	0.999996947619327	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.29	4.41	0.52588	0.754000	0.26056	1.104000	0.24096	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9226:0.0:0.0774	13.145	0.58873	424	0.81215	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	506.98	34	chr14	50665189	.	C	A	506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.748e+00;DP=717;ExcessHet=0.0000;FS=2.963;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=41.50;MQRankSum=-2.269e+00;QD=12.37;ReadPosRankSum=1.71;SOR=0.293	GT:AD:DP:GQ:PL	0/1:20,21:41:99:521,0,559	20	0	1	0
chr14	50723510	50723510	T	G	exonic	NIN	.	nonsynonymous SNV	NIN:NM_020921:exon31:c.A6355C:p.N2119H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.996	D	0.939	D	0.005	N	1.000	D	0.69	N	1.56	T	-1.039	T	0.098	T	0.134	3.878	19.71	5.62	2.266	5.421	9.753	0.069	0.0127990220681	.	0.000199681	8.293e-06	0	0	0	0	1.5e-05	0	0	1.29e-05	2	154602	rs572352459	2.053e-05	2.052e-05	2.315e-05	1.788e-05	0.0004	1.456e-05	1.264e-05	0.0003	0.0002	0.0004	0	0	0	0	0	1.439e-05	0	0	3.948e-05	3.94e-05	3.862e-05	4.038e-05	0.0001	1.717e-05	1.131e-05	4.739e-05	3.053e-05	0.0001	0	0	0	0	0	0	1.472e-05	0	0	0.024	0.47745	D	0.047	0.48855	D	0.996	0.68779	D	0.939	0.67449	D	0.005287	0.32928	N	0.315765	1	0.81001	D	.	.	.	1.56	0.29602	T	-1.45	0.35597	N	0.343	0.38438	-1.0387	0.17709	T	0.098	0.36677	T	10	0.22942027	0.39869	T	0.012799	0.31686	T	0.069	0.20116	0.256	0.19689	0.548865971634	0.54542	.	.	.	.	0.574543476105	0.49319	T	.	.	.	-0.329709	0.06134	T	-0.529852	0.19300	T	0.71762228012085	0.41579	D	0.868613	0.57103	D	.	.	.	.	.	.	.	.	-5.069	0.37579	T	.	.	0.158	0.34927	B	.;.	.;.	4.332891	0.66407	25.0	0.99540396411539511	0.70461	0.96544	0.69671	D	AEFBI	0.679668	0.64362	D	0.548298295939868	0.69978	5.434593	0.593745154370098	0.74491	6.14592	0.999999386163376	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	5.513000	0.66754	6.053000	0.53107	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.077:0.0:0.923	9.753	0.39657	443	0.79878	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	989.98	40	chr14	50723510	.	T	G	989.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.02;DP=781;ExcessHet=0.0000;FS=1.795;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=-1.231e+00;SOR=0.455	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1112	20	0	1	0
chr14	50729533	50729533	T	C	exonic	NIN	.	nonsynonymous SNV	NIN:NM_016350:exon28:c.A3929G:p.N1310S	.	.	8	1511	3	0	0	3	0.000991736	.	.	135247	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.81	T	0.998	D	0.987	D	0.073	N	1.000	D	1.935	M	3.19	T	-0.960	T	0.048	T	0.016	1.398	10.61	2.85	0.403	0.636	8.253	0.066	.	0.0069	0.00599042	0.0019	0.0202	0.0009	0	0	3.032e-05	0	6.54e-05	0.001727	267	154602	rs61747997	0.0006	0.0006	0.0007	0.0006	0.0211	0.0006	0.0006	0.0198	0.0193	0.0211	0.0011	0	0	0	0.0012	8.095e-05	0.0013	0.0001	0.0057	0.0057	0.0057	0.0058	0.0200	0.0054	0.0053	0.0189	0.0185	0.0200	0	0.0012	0	0	0	0	0.0001	0.0047	0.0002	0.333	0.29823	T	0.818	0.37872	T	0.998	0.73220	D	0.987	0.77487	D	0.072685	0.21393	N	0.515105	1	0.81001	D	1.545	0.39105	L	1.58	0.29085	T	-1.14	0.34397	N	0.141	0.21969	-0.9599	0.39199	T	0.048	0.20474	T	10	0.004493773	0.00092	T	.	.	.	0.066	0.19193	.	.	0.370051654043	0.36618	0.0963691483328524	0.09568	0.102646631919	0.11614	0.263332635164	0.05294	T	0.042161	0.26094	T	-0.650922	0.00072	T	-0.692185	0.06263	T	0.0122459111064374	0.00197	T	0.886311	0.61284	D	0.03190119	0.03116	0.051322427	0.08236	0.031445563	0.02986	0.046964552	0.06661	-1.932	0.03367	T	.	.	0.068	0.06571	B	.;.;.;.;.;.	.;.;.;.;.;.	1.261522	0.16596	12.64	0.97510651794910519	0.34347	0.67325	0.33392	D	AEFBHCI	0.070007	0.13880	N	-0.520228904020131	0.21426	1.13702	-0.542619735817094	0.21002	1.13411	0.912929871792544	0.26408	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.23	2.85	0.32333	0.754000	0.26056	-0.153000	0.11399	0.665000	0.62972	1.000000	0.71638	0.730000	0.26410	0.009000	0.08673	0.0:0.172:0.0:0.828	8.253	0.30895	436	0.80373	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1260.98	33	chr14	50729533	.	T	C	1260.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.773;DP=769;ExcessHet=0.0000;FS=4.830;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.76;ReadPosRankSum=-2.550e-01;SOR=1.191	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1251	20	0	1	0
chr14	50729698	50729698	G	A	exonic	NIN	.	nonsynonymous SNV	NIN:NM_016350:exon28:c.C3764T:p.T1255M	.	.	14	1501	7	0	0	7	0.00232635	.	.	135245	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.27	T	0.049	B	0.011	B	0.946	N	1.000	D	-0.255	N	3.56	T	-0.958	T	0.005	T	0.185	0.191	5.031	-1.67	-0.152	0.161	10.519	0.042	.	0.0082	0.00678914	0.0046	0.0224	0.0044	0.0003	0	0.0012	0.0014	0.0129	0.0037128	574	154602	rs61744312	0.0028	0.0028	0.0026	0.0029	0.0216	0.0027	0.0027	0.0203	0.0198	0.0216	0.0035	3.855e-05	0.0002	5.629e-05	0.0023	0.0020	0.0033	0.0091	0.0073	0.0073	0.0070	0.0075	0.0208	0.0069	0.0068	0.0196	0.0191	0.0208	0	0.0054	0	0.0006	0	0	0.0016	0.0052	0.0075	0.579	0.32610	T	0.175	0.29945	T	0.001	0.14655	B	0.001	0.10090	B	0.946106	0.08320	N	0.975835	1	0.81001	D	0.11	0.08516	N	3.56	0.11515	T	-0.64	0.25986	N	0.175	0.26717	-0.9580	0.39552	T	0.005	0.01578	T	10	0.0028357506	0.00045	T	.	.	.	0.042	0.11227	.	.	0.194818534648	0.19098	0.12958473197697273	0.12883	0.126302431423	0.14236	0.305399239063	0.11211	T	0.021026	0.16449	T	-0.615783	0.00117	T	-0.64105	0.09592	T	0.00216859548528956	0.00022	T	0.733627	0.34942	T	0.008595569	0.00001	0.027851343	0.00970	0.007656286	0.00000	0.031184245	0.01673	-4.848	0.35498	T	.	.	0.063	0.01408	B	.;.;.;.;.;.	.;.;.;.;.;.	0.306673	0.06821	3.345	0.68011307886225958	0.08528	0.36403	0.25525	N	AEFGBHCI	0.015136	0.00274	N	-1.09915871518642	0.06660	0.3071757	-0.963183899599377	0.10618	0.5359496	0.932509544491892	0.27091	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.23	-1.67	0.07798	0.089000	0.14843	0.058000	0.14093	-2.455000	0.00279	0.967000	0.34061	0.070000	0.22201	0.097000	0.18139	0.5201:0.0:0.4799:0.0	10.519	0.44095	436	0.80373	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1276.98	33	chr14	50729698	.	G	A	1276.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.68;ReadPosRankSum=-6.700e-01;SOR=0.719	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1251	20	0	1	0
chr14	52028763	52028763	C	T	exonic	NID2	.	nonsynonymous SNV	NID2:NM_007361:exon11:c.G2489A:p.R830Q,	.	.	427	1043	45	7	0	59	0.0275058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.987	D	0.4	B	0.075	N	0.990	N	0.585	N	-2.2	D	-0.767	T	0.156	T	0.266	1.583	11.25	3.84	1.454	-0.172	2.629	0.182	.	0.0112	0.0177716	0.0084	0.0187	0.0060	0.0216	0.0006	0.0045	0.0066	0.0158	0.0079947	1236	154602	rs7144523	0.0056	0.0056	0.0051	0.0060	0.0454	0.0055	0.0054	0.0409	0.0392	0.0171	0.0063	0.0249	0.0349	0.0015	0.0454	0.0026	0.0090	0.0169	0.0090	0.0090	0.0086	0.0094	0.0306	0.0086	0.0084	0.0268	0.0253	0.0163	0	0.0073	0.0210	0.0306	0.0012	0.0374	0.0033	0.0113	0.0153	0.617	0.05357	T	0.72	0.06147	T	0.032	0.20242	B	0.008	0.13708	B	0.075333	0.21230	N	0.558460	0.995152	0.24245	N	0.4	0.12274	N	-2.2	0.86888	D	0.23	0.04613	N	0.125	0.11769	-0.7669	0.57027	T	0.156	0.48772	T	10	0.0041407347	0.00082	T	.	.	.	0.182	0.45420	.	.	0.629173233237	0.62614	0.2754759937405691	0.27460	0.106631379712	0.12050	0.237848654389	0.02599	T	0.117612	0.43781	T	-0.398745	0.02360	T	-0.306817	0.44000	T	0.00933876780114129	0.00119	T	0.876412	0.60266	D	0.06400333	0.13534	0.036218125	0.03024	0.06400333	0.13534	0.036218125	0.03024	-2.335	0.04750	T	.	.	0.083	0.09191	B	.;.	.;.	2.030002	0.25802	16.89	0.98198910300172382	0.39105	0.04564	0.10207	N	AEFBI	0.053034	0.09519	N	-0.435810968365076	0.24223	1.306472	-0.325364618916186	0.27281	1.512757	0.999937259810121	0.46732	0.693126	0.56070	0	0.588066	0.40923	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	5.94	3.84	0.43422	-0.460000	0.06797	-1.340000	0.05675	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.898000	0.43474	0.1766:0.3843:0.3298:0.1093	2.629	0.04639	899	0.25060	EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4298.08	39	chr14	52028763	.	C	T	4298.08	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.09;DP=943;ExcessHet=0.0000;FS=3.070;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=29.44;ReadPosRankSum=1.03;SOR=0.289	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	1	0	0
chr14	52042883	52042883	C	T	exonic	NID2	.	nonsynonymous SNV	NID2:NM_007361:exon6:c.G1478A:p.R493K,	.	.	424	1077	20	1	0	22	0.0101103	.	.	702896	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.323	B	0.079	B	0.398	N	1.000	N	1.175	L	-1.53	D	-0.774	T	0.294	T	0.172	-0.749	0.820	1.77	0.108	1.727	6.318	0.109	0.0304468616573	0.0063	0.00259585	0.0055	0.0011	0.0013	0	0.0024	0.0086	0.0033	0.0030	0.0057761	893	154602	rs111989036	0.0076	0.0076	0.0077	0.0076	0.0088	0.0075	0.0074	0.0086	0.0086	0.0010	0.0017	0.0135	0	0.0031	0.0073	0.0088	0.0068	0.0032	0.0049	0.0049	0.0053	0.0045	0.0083	0.0046	0.0045	0.0078	0.0076	0.0012	0	0.0014	0.0130	0	0.0041	0.0034	0.0083	0.0038	0.0029	0.713	0.04008	T	0.41	0.14544	T	0.036	0.20732	B	0.028	0.21332	B	0.398379	0.13159	N	0.766255	1	0.08975	N	0.665	0.16292	N	-2.2	0.86888	D	-0.55	0.16799	N	0.156	0.16168	-0.7743	0.56620	T	0.294	0.66517	T	10	0.005351484	0.00117	T	0.030447	0.52756	D	0.109	0.30843	.	.	0.543561272632	0.54008	0.16438596761333624	0.16358	0.0968026728174	0.10928	0.219821214676	0.01300	T	0.067525	0.33224	T	-0.384962	0.02898	T	-0.319209	0.42661	T	0.000374597644603621	0.00003	T	0.364964	0.08484	T	0.08498389	0.19694	0.062388107	0.12198	0.08498389	0.19694	0.062388107	0.12198	-5.213	0.39074	T	.	.	0.093	0.14015	B	.	.	1.516089	0.19470	14.28	0.4565946494951153	0.03600	0.01789	0.05595	N	AEFDGBIJ	0.097982	0.19752	N	-0.876788700375661	0.11397	0.5497405	-0.858368721566801	0.13086	0.6769452	0.999961118433219	0.48965	0.693126	0.56070	0	0.59043	0.45803	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	5.77	1.77	0.23848	1.354000	0.33660	1.330000	0.25662	0.594000	0.32500	0.001000	0.13787	0.001000	0.17328	0.719000	0.34739	0.1283:0.6585:0.0:0.2132	6.318	0.20409	914	0.21048	EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	989.98	40	chr14	52042883	.	C	T	989.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.090e-01;DP=869;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.61;ReadPosRankSum=1.42;SOR=0.660	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	20	0	1	0
chr14	52274879	52274879	G	A	exonic	PTGDR	.	nonsynonymous SNV	PTGDR:NM_000953:exon2:c.G995A:p.R332Q,	.	.	431	1073	18	0	0	18	0.00831793	.	.	2810423	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.08	T	0.971	D	0.49	P	0.001	D	1.000	D	0	N	0.41	T	-0.942	T	0.082	T	0.306	4.229	22.0	5.2	2.814	5.325	18.201	0.100	.	0.0083	0.00479233	0.0068	0.0028	0.0076	0.0005	0.0015	0.0098	0.0033	0.0024	0.0069081	1068	154602	rs41312506	0.0094	0.0095	0.0096	0.0093	0.0110	0.0093	0.0092	0.0108	0.0107	0.0018	0.0068	0.0152	0.0001	0.0025	0.0049	0.0110	0.0076	0.0026	0.0064	0.0064	0.0072	0.0055	0.0095	0.0061	0.0059	0.0089	0.0087	0.0028	0	0.0068	0.0150	0.0008	0.0021	0.0136	0.0095	0.0057	0.0025	0.202	0.20230	T	0.135	0.34124	T	0.971	0.57185	D	0.49	0.47330	P	0.000514	0.43753	D	0.000000	0.997587	0.81001	D	0.975	0.24501	L	0.41	0.57100	T	-1.11	0.28703	N	0.512	0.54322	-0.9419	0.42314	T	0.082	0.32148	T	10	0.0035287142	0.00063	T	.	.	.	0.100	0.28662	.	.	0.701814409658	0.69922	0.7192917017150969	0.71872	1.14603378433	0.79078	0.383094370365	0.22695	T	0.241192	0.60967	T	-0.422193	0.01657	T	-0.367551	0.37174	T	0.025664500669609	0.01361	T	0.763424	0.38984	T	0.14190471	0.32679	0.13745788	0.32856	0.14190471	0.32679	0.13745788	0.32855	-5.525	0.42101	T	.	.	0.134	0.29116	B	.	.	4.869678	0.79763	27.2	0.99947268822099244	0.99913	0.97928	0.78194	D	AEFBI	0.681175	0.64461	D	0.325560549258296	0.57463	3.913804	0.412121553568901	0.62318	4.445355	0.999999545287236	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.2	5.2	0.71720	5.301000	0.65520	7.109000	0.57560	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.470000	0.28341	0.0:0.0:1.0:0.0	18.201	0.89774	905	0.23532	.	TXNDC16	Esophagus_Mucosa	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	973.98	34	chr14	52274879	.	G	A	973.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=854;ExcessHet=0.0000;FS=0.846;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.70;ReadPosRankSum=-1.839e+00;SOR=0.879	GT:AD:DP:GQ:PL	0/0:59,0:59:99:0,120,1800	20	0	1	0
chr14	52432318	52432318	A	C	exonic	TXNDC16	.	nonsynonymous SNV	TXNDC16:NM_001160047:exon21:c.T2449G:p.S817A	.	.	601	908	9	4	0	17	0.00927441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	0.010	N	1.000	N	0	N	2.27	T	-0.991	T	0.023	T	0.243	0.694	7.705	-0.147	0.023	1.128	1.840	0.054	.	0.0002	0.00399361	0.0025	9.694e-05	0.0002	0	0	0.0002	0	0.0188	0.0021216	328	154602	rs144886303	0.0012	0.0012	0.0007	0.0017	0.0162	0.0012	0.0011	0.0155	0.0152	0.0001	0.0002	0.0015	0	0	0.0019	0.0002	0.0012	0.0162	0.0007	0.0007	0.0004	0.0010	0.0176	0.0006	0.0005	0.0146	0.0135	2.405e-05	0	0	0.0017	0.0002	0	0.0034	0.0001	0.0005	0.0176	0.0	0.91255	D	0.525	0.10281	T	0.0	0.02946	B	0.001	0.04355	B	0.009551	0.01245	N	2.963580	1	0.08975	N	1.1	0.28011	L	2.27	0.17431	T	0.43	0.03297	N	0.085	0.06190	-0.9910	0.32347	T	0.023	0.09604	T	10	0.0028789937	0.00046	T	.	.	.	0.054	0.15330	.	.	0.236890367714	0.23314	0.02832776152688603	0.02782	0.0191806811106	0.01871	0.323685586452	0.13979	T	6.69E-4	0.00291	T	-0.561185	0.00250	T	-0.565906	0.15826	T	0.0353943228985161	0.02875	T	0.112489	0.00851	T	0.1431432	0.32911	0.113746524	0.27454	0.1431432	0.32910	0.113746524	0.27454	-4.315	0.28387	T	.	.	0.072	0.04277	B	.	.	0.164659	0.05545	2.006	0.64902230717678866	0.07622	0.07353	0.13374	N	AEFI	0.049833	0.08648	N	-1.00522374241208	0.08495	0.3985125	-1.00942195171716	0.09577	0.4772778	0.101633738089486	0.16386	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.07	-0.147	0.12771	0.277000	0.18496	1.455000	0.26636	0.750000	0.87069	0.020000	0.19661	0.084000	0.22431	0.051000	0.15275	0.4118:0.3341:0.0928:0.1613	1.840	0.02957	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1306.98	33	chr14	52432318	.	A	C	1306.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.189;DP=788;ExcessHet=0.0000;FS=0.787;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=1.51;SOR=0.608	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1301	20	0	1	0
chr14	52860346	52860346	A	C	exonic	FERMT2	.	nonsynonymous SNV	FERMT2:NM_006832:exon13:c.T1722G:p.I574M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.25	B	0.361	B	0.000	N	1.000	D	1.71	L	-1.08	T	-0.531	T	0.387	T	0.311	2.186	13.26	3.63	0.482	-0.144	6.979	0.257	0.0372308340027	0.0005	.	0.0006	0	0	0	0	0.0011	0	0	0.0005369	83	154602	rs138631913	0.0005	0.0005	0.0004	0.0005	0.0006	0.0004	0.0004	0.0005	0.0005	5.977e-05	0	0	0	0.0003	0.0005	0.0006	0.0004	3.48e-05	0.0004	0.0004	0.0005	0.0004	0.0009	0.0004	0.0003	0.0007	0.0006	0.0001	0	0	0	0	0.0002	0	0.0009	0.0010	0	0.147	0.25664	T	0.147	0.39645	T	0.25	0.31189	B	0.361	0.43233	B	0.000007	0.62929	N	0.111145	0.99996	0.52935	D	1.995	0.54099	M	-1.08	0.77078	T	-1.48	0.38151	N	0.282	0.32481	-0.5311	0.67500	T	0.387	0.74194	T	10	0.06109178	0.07607	T	0.037231	0.57485	D	0.257	0.56827	.	.	0.620908578521	0.61783	0.4577229104266093	0.45690	0.408847854012	0.41716	0.56936109066	0.48586	T	0.417272	0.76997	T	-0.332066	0.05956	T	-0.290299	0.45743	T	0.0706432352304257	0.08741	T	0.79582	0.43907	T	0.14194173	0.32684	0.11197109	0.27013	0.14194173	0.32684	0.11197109	0.27013	-6.703	0.52930	T	.	.	0.069	0.06069	B	.;.;.;.;.;.	.;.;.;.;.;.	2.050203	0.26063	16.99	0.98182868294055392	0.38958	0.46290	0.27727	N	AEFBI	0.341683	0.43808	N	-0.260438569820373	0.30689	1.713526	-0.185259571106616	0.32076	1.821427	0.997092481518992	0.35269	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.645665	0.59343	0	.	.	6.07	3.63	0.40741	-0.273000	0.08580	0.102000	0.14662	0.727000	0.85467	0.114000	0.23067	0.117000	0.22861	0.999000	0.91618	0.7325:0.1267:0.1408:0.0	6.979	0.23870	781	0.47532	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	931.98	36	chr14	52860346	.	A	C	931.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.79;DP=767;ExcessHet=0.0000;FS=6.244;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=-2.058e+00;SOR=1.508	GT:AD:DP:GQ:PL	0/1:47,33:80:99:946,0,1133	20	0	1	0
chr14	54531033	54531033	C	T	exonic	CGRRF1	.	nonsynonymous SNV	CGRRF1:NM_006568:exon4:c.C553T:p.R185W,	.	.	432	1077	13	0	0	13	0.00599908	.	.	725692	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.15	T	0.999	D	0.828	P	0.001	D	0.995	D	1.67	L	1.62	T	-1.057	T	0.067	T	0.361	3.708	18.83	4.59	1.495	2.898	12.301	0.101	.	0.0075	0.00339457	0.0074	0.0019	0.0079	0	0.0033	0.0105	0.0070	0.0040	0.0071927	1112	154602	rs34839928	0.0089	0.0090	0.0090	0.0089	0.0125	0.0088	0.0087	0.0102	0.0099	0.0026	0.0102	0.0010	0.0001	0.0044	0.0125	0.0101	0.0103	0.0030	0.0075	0.0075	0.0075	0.0074	0.0189	0.0071	0.0070	0.0171	0.0164	0.0021	0	0.0189	0.0006	0	0.0028	0.0102	0.0100	0.0156	0.0027	0.014	0.53172	D	0.019	0.59159	D	0.999	0.77913	D	0.828	0.59497	P	0.000525	0.43581	D	0.252112	0.994756	0.42403	D	1.845	0.48678	L	1.62	0.28189	T	-2.27	0.50666	N	0.656	0.66615	-1.0566	0.12621	T	0.067	0.27502	T	10	0.006599784	0.00149	T	.	.	.	0.101	0.28911	.	.	0.415313616471	0.41148	0.6283870788807333	0.62771	0.451217625391	0.44872	0.34764662385	0.17576	T	0.075838	0.35275	T	-0.449287	0.01140	T	-0.40647	0.32632	T	0.0550796537655671	0.06371	T	0.868613	0.57103	D	0.106639296	0.25216	0.10118104	0.24215	0.106639296	0.25216	0.10118104	0.24215	-7.207	0.55532	T	.	.	0.152	0.33619	B	.	.	4.825046	0.78622	26.9	0.99915803401393699	0.98379	0.85415	0.44545	D	AEFBI	0.534647	0.55360	D	0.430531300260457	0.63109	4.538369	0.438042491003234	0.63954	4.639709	0.716162251239113	0.22876	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.5	4.59	0.56297	2.768000	0.47329	4.891000	0.45764	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.4859:0.5141:0.0:0.0	12.301	0.54197	793	0.45818	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	119.98	35	chr14	54531033	.	C	T	119.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.219e+00;DP=770;ExcessHet=0.0000;FS=18.720;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.35;ReadPosRankSum=0.438;SOR=1.108	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1062	20	0	1	0
chr14	54537774	54537774	G	T	exonic	CGRRF1	.	nonsynonymous SNV	CGRRF1:NM_006568:exon5:c.G623T:p.C208F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.995	D	0.000	D	1.000	D	2.045	M	1.64	T	-0.814	T	0.206	T	0.759	4.347	22.9	5.97	2.833	5.297	20.432	0.268	0.0327354753929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.008	0.92824	D	0.998	0.73220	D	0.915	0.65091	D	0.000004	0.62929	D	0.142200	0.999815	0.49394	D	2.005	0.54552	M	1.64	0.27822	T	-3.48	0.67941	D	0.783	0.77978	-0.8136	0.54331	T	0.206	0.56444	T	10	0.5141686	0.62270	D	0.032735	0.54482	D	0.268	0.58254	0.44	0.49484	0.602774461166	0.59959	0.7089178162014733	0.70833	0.485656705025	0.47436	0.58869689703	0.51310	T	0.141143	0.47604	T	0.0703483	0.60892	D	-0.136726	0.60400	T	0.987850725650787	0.78274	D	0.865513	0.57909	D	0.5900225	0.72152	0.57162964	0.75192	0.5900225	0.72153	0.57162964	0.75193	-6.085	0.46985	T	.	.	0.898	0.82613	P	.;.	.;.	4.945640	0.81653	27.6	0.99178002265686482	0.54585	0.68453	0.33808	D	AEFDGBHCI	0.733541	0.67995	D	0.781628301457377	0.84945	8.431328	0.785077200387137	0.88734	9.695858	0.999999999941834	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.97	5.97	0.96935	5.392000	0.66020	11.869000	0.98523	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.432	0.99087	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	859.98	33	chr14	54537774	.	G	T	859.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.56;ReadPosRankSum=-9.400e-01;SOR=0.681	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1211	20	0	1	0
chr14	54702323	54702323	G	A	exonic	SAMD4A	.	nonsynonymous SNV	SAMD4A:NM_001161576:exon2:c.G458A:p.R153H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	1.0	D	0.998	D	0.000	D	0.970	D	1.175	L	-0.79	T	-0.344	T	0.482	T	0.803	5.138	32	6.17	2.941	7.845	20.879	0.341	0.0544439241297	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1381801186	6.841e-06	6.84e-06	6.806e-06	6.875e-06	1.159e-05	3.46e-06	2.52e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	1.656e-05	1.159e-05	3.307e-05	3.289e-05	3.875e-05	2.71e-05	4.832e-05	1.267e-05	8.02e-06	1.181e-05	6.28e-06	4.832e-05	0	0	0	0	0	0	4.45e-05	0	0	0.063	0.36709	T	0.076	0.42614	T	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.969843	0.38756	D	1.32	0.33002	L	-0.79	0.73739	T	-3.08	0.63323	D	0.707	0.71232	-0.3436	0.73739	T	0.482	0.80210	T	10	0.6458488	0.69321	D	0.054444	0.65859	D	0.341	0.66297	0.241	0.17371	0.346610688518	0.34274	0.5318729353260168	0.53112	1.61165418836	0.88912	0.687894940376	0.65403	T	0.202737	0.56100	T	0.204772	0.74338	D	0.0563643	0.74004	D	0.822661314772034	0.47970	D	0.933007	0.74900	D	0.27109322	0.50180	0.17842607	0.40510	0.27109322	0.50180	0.17842607	0.40509	-7.187	0.55388	T	.	.	0.182	0.39494	B	.;.;.	.;.;.	4.695860	0.75298	26.3	0.99955903119822742	0.99975	0.97175	0.73131	D	AEFGBI	0.904979	0.85593	D	0.692981332886665	0.79172	7.021976	0.742562003232024	0.85601	8.629335	1.0	0.98316	0.67177	0.52595	0	0.588066	0.40923	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	6.17	6.17	0.99707	7.881000	0.85735	11.914000	0.99653	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.849000	0.40138	0.0:0.0:1.0:0.0	20.879	0.99870	764	0.49969	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2044.98	33	chr14	54702323	.	G	A	2044.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.11;DP=884;ExcessHet=0.0000;FS=1.220;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=0.574;SOR=0.843	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1255	20	0	1	0
chr14	54989169	54989169	T	C	exonic	WDHD1	.	nonsynonymous SNV	WDHD1:NM_001008396:exon12:c.A1016G:p.Q339R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.565	P	0.205	B	0.000	D	1.000	D	2.175	M	0.4	T	-0.746	T	0.225	T	0.536	3.632	18.47	5.28	1.994	7.756	15.192	0.155	0.0306006386241	.	.	8.245e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs747595111	4.106e-06	4.104e-06	4.085e-06	4.127e-06	2.238e-05	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	2.238e-05	0	0	0	0	4.497e-06	0	0	2.628e-05	2.627e-05	3.854e-05	1.345e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.026	0.51853	D	0.005	0.72224	D	0.565	0.38434	P	0.205	0.37080	B	0.000001	0.84330	D	0.056324	0.999999	0.81001	D	2.62	0.76659	M	0.4	0.62051	T	-2.11	0.48020	N	0.574	0.59648	-0.7463	0.58128	T	0.225	0.58995	T	10	0.41139224	0.56249	T	0.030601	0.52874	D	0.155	0.40530	.	.	0.77357140602	0.77149	0.3911250860792937	0.39027	0.0505833985199	0.05556	0.645160138607	0.59298	T	0.004332	0.03739	T	-0.00602662	0.50820	T	-0.163568	0.58030	T	0.559316754341125	0.34830	D	0.809719	0.46038	T	0.71445906	0.78854	0.45996156	0.68632	0.71445906	0.78855	0.45996156	0.68632	-12.247	0.86033	D	.	.	0.136	0.29505	B	.;.	.;.	3.773350	0.54214	23.5	0.9968427772665428	0.79507	0.98081	0.79437	D	AEFGBI	0.896358	0.83734	D	0.280866178229071	0.55178	3.682178	0.367809341939449	0.59589	4.13789	0.999999705475191	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.28	5.28	0.74118	7.735000	0.83874	6.085000	0.53387	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.917000	0.45243	0.0:0.0:0.0:1.0	15.192	0.72739	708	0.56926	Minichromosome loss protein Mcl1, middle region;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	722.98	41	chr14	54989169	.	T	C	722.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.611;DP=765;ExcessHet=0.0000;FS=5.256;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.77;ReadPosRankSum=0.022;SOR=1.383	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1090	20	0	1	0
chr14	54991269	54991269	G	A	exonic	WDHD1	.	nonsynonymous SNV	WDHD1:NM_001008396:exon11:c.C916T:p.R306W	.	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.998	D	0.613	P	0.000	D	1.000	D	1.845	L	0.31	T	-0.589	T	0.279	T	0.371	3.117	16.41	3.51	0.236	3.768	16.587	0.209	0.0927290671828	0.0005	0.000599042	0.0002	0.0007	8.645e-05	0.0009	0	0.0001	0	0.0001	0.0002264	35	154602	rs140961762	0.0001	0.0001	0.0001	0.0001	0.0021	9.543e-05	9.023e-05	0.0012	0.0009	0.0010	6.708e-05	0	0.0005	0	0.0021	6.301e-05	0.0002	0.0001	0.0002	0.0002	0.0003	0.0002	0.0007	0.0002	0.0002	0.0005	0.0004	0.0007	0	6.542e-05	0	0.0002	0	0	0.0001	0	0	0.024	0.47745	D	0.025	0.56192	D	0.998	0.73220	D	0.613	0.51171	P	0.000466	0.44119	D	0.199804	0.977957	0.81001	D	2.34	0.67151	M	0.31	0.63911	T	-2.75	0.58407	D	0.401	0.51851	-0.5894	0.65245	T	0.279	0.65048	T	10	0.08469829	0.14221	T	0.092729	0.75944	D	0.209	0.49871	.	.	0.73047051839	0.72807	0.3243140998895205	0.32344	0.147686143266	0.16665	0.252163112164	0.03999	T	0.084803	0.37359	T	-0.28169	0.10489	T	-0.266559	0.48168	T	0.0959456739682746	0.11904	T	0.962404	0.85970	D	0.5306146	0.68865	0.27313003	0.53229	0.5306146	0.68866	0.27313003	0.53228	-9.685	0.78168	D	.	.	0.103	0.18622	B	.;.	.;.	3.873674	0.56256	23.7	0.99712744480523785	0.81423	0.96788	0.70942	D	AEFGBI	0.314110	0.41907	N	-0.0674457646601736	0.38826	2.28009	-0.100178108401659	0.35383	2.046466	0.210261951198439	0.18230	0.744818	0.98587	0	0.724815	0.89359	0	0.724815	0.87919	0	0.76194	0.99817	0	.	.	5.36	3.51	0.39297	3.649000	0.54157	4.454000	0.43433	-0.108000	0.15293	0.759000	0.29231	0.936000	0.28664	0.537000	0.29868	0.0:0.0:0.6544:0.3456	16.587	0.84580	708	0.56926	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	921.98	34	chr14	54991269	.	G	A	921.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.57;DP=763;ExcessHet=0.0000;FS=4.348;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.11;ReadPosRankSum=-8.000e-01;SOR=1.240	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1274	20	0	1	0
chr14	55138163	55138163	C	G	exonic	LGALS3	.	nonsynonymous SNV	LGALS3:NM_002306:exon3:c.C137G:p.P46R	.	.	409	1111	2	0	0	2	0.000899281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.997	D	0.024	N	1.000	D	2.815	M	2.28	T	0.481	D	0.671	D	0.738	2.414	14.03	5.34	2.500	3.988	15.956	0.247	0.1104059464	0.0002	.	0.0002	0	0.0007	0	0.0002	0.0003	0.0012	0	0.0002135	33	154602	rs200440596	0.0002	0.0002	0.0002	0.0003	0.0011	0.0002	0.0002	0.0005	0.0003	0	0.0003	0.0003	0	1.885e-05	0.0011	0.0003	0.0002	1.177e-05	0.0001	0.0001	0.0002	8.074e-05	0.0002	8.172e-05	6.728e-05	9.054e-05	7.017e-05	7.239e-05	0	0.0002	0.0003	0	9.406e-05	0	0.0002	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.024465	0.26256	N	0.332388	0.999984	0.54805	D	3.535	0.93119	H	-1.15	0.77964	T	-8.25	0.96899	D	0.71	0.71321	0.481	0.90280	D	0.671	0.88609	D	10	0.47428244	0.60049	T	0.110406	0.78778	D	0.247	0.55478	.	.	0.960189437565	0.95976	0.7937652219850819	0.79329	0.0640153949125	0.07131	0.667726397514	0.62513	T	0.276057	0.91781	T	0.0223149	0.54695	T	0.100254	0.76926	D	0.390549004077911	0.28585	T	0.909209	0.67884	D	0.4680864	0.65173	0.59104675	0.76270	0.4680864	0.65174	0.59104675	0.76271	-13.249	0.90362	D	.	.	0.467	0.64572	A	.;.;.	.;.;.	3.409051	0.47284	22.4	0.9828729407096588	0.39916	0.95994	0.67055	D	AEFDBCI	0.767581	0.70340	D	0.713139066880044	0.80493	7.306512	0.628602271958288	0.77024	6.600742	0.999999999888386	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.779548	0.98927	0	0.735409	0.98432	0	.	.	5.34	5.34	0.75982	4.525000	0.60274	7.400000	0.58569	0.599000	0.40250	0.996000	0.39380	0.999000	0.35428	0.165000	0.20815	0.0:1.0:0.0:0.0	15.956	0.79678	888	0.27761	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1742.98	34	chr14	55138163	.	C	G	1742.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.371e+00;DP=866;ExcessHet=0.0000;FS=1.361;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.72;ReadPosRankSum=-7.880e-01;SOR=0.853	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1151	20	0	1	0
chr14	55138184	55138184	C	A	exonic	LGALS3	.	nonsynonymous SNV	LGALS3:NM_002306:exon3:c.C158A:p.A53D	.	.	416	1073	31	2	0	35	0.0160477	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.109	B	0.031	B	0.768	N	1.000	N	2.31	M	3.54	T	-0.900	T	0.207	T	0.376	2.023	12.72	0.524	-0.427	0.520	13.127	0.130	.	0.0015	0.00798722	0.0058	0.0003	0.0006	0	0	0.0020	0.0071	0.0328	0.0050581	782	154602	rs201924703	0.0033	0.0033	0.0025	0.0042	0.0291	0.0033	0.0032	0.0281	0.0277	0.0004	0.0010	0.0072	0	1.884e-05	0.0132	0.0016	0.0044	0.0291	0.0021	0.0021	0.0016	0.0026	0.0298	0.0019	0.0018	0.0259	0.0244	0.0005	0.0011	0.0020	0.0069	0.0002	0	0.0102	0.0014	0.0033	0.0298	0.004	0.65419	D	0.062	0.45318	T	0.109	0.26142	B	0.031	0.21939	B	0.767646	0.09572	N	0.903066	1	0.08975	N	3.16	0.88528	M	0.32	0.58468	T	-4.93	0.81755	D	0.412	0.45237	-0.8996	0.48034	T	0.207	0.56581	T	10	0.004808992	0.00102	T	.	.	.	0.130	0.35528	.	.	0.602985972322	0.59981	0.5503381023068328	0.54959	0.0885378025442	0.10014	0.487728774548	0.37124	T	0.160339	0.70105	T	-0.386193	0.02846	T	-0.305204	0.44173	T	0.106454618515583	0.13053	T	0.79912	0.44420	T	0.37960795	0.59288	0.19941917	0.43822	0.37960795	0.59288	0.19941917	0.43821	-12.984	0.89298	D	.	.	0.336	0.62767	B	.;.;.	.;.;.	1.812654	0.23033	15.86	0.8394795148226204	0.15010	0.10011	0.15632	N	AEFDBHCI	0.211168	0.33699	N	-1.02846673017558	0.08016	0.3744216	-1.10042699446044	0.07693	0.3751844	0.999990175683471	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.779548	0.98927	0	0.735409	0.98432	0	.	.	5.76	0.524	0.16260	0.707000	0.25379	0.522000	0.19173	-0.172000	0.11096	0.000000	0.06391	0.001000	0.17328	0.007000	0.07825	0.0:0.5225:0.4133:0.0642	13.127	0.58778	888	0.27761	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1944.98	34	chr14	55138184	.	C	A	1944.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.760e+00;DP=856;ExcessHet=0.0000;FS=8.424;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.69;ReadPosRankSum=0.196;SOR=0.958	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1151	20	0	1	0
chr14	55351531	55351531	A	C	exonic	FBXO34	.	nonsynonymous SNV	FBXO34:NM_017943:exon2:c.A1141C:p.S381R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.603	P	0.165	B	0.659	N	1.000	N	1.61	L	2.2	T	-1.019	T	0.044	T	0.167	-0.222	2.925	2.93	0.989	1.411	6.001	0.030	0.00674510972346	.	0.000199681	9.884e-05	0	0.0002	0	0	0.0001	0	0.0001	0.0001035	16	154602	rs193046024	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	0.0001	0.0001	0.0002	0.0002	0	0	0	0.0003	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0002	7.087e-05	5.744e-05	9.048e-05	7.012e-05	2.406e-05	0	0.0001	0	0	0	0.0068	0.0002	0	0.0002	0.448	0.09048	T	0.28	0.21678	T	0.603	0.39389	P	0.165	0.35019	B	0.658598	0.05966	N	1.178280	1	0.08975	N	1.39	0.34934	L	2.2	0.18570	T	-1.09	0.28290	N	0.189	0.22228	-1.0186	0.24171	T	0.044	0.18906	T	10	0.071976215	0.10683	T	0.006745	0.17812	T	0.030	0.07022	0.392	0.41606	0.270447802918	0.26645	0.11191313462813925	0.11120	0.217102352539	0.24225	0.279802918434	0.07465	T	0.007313	0.06724	T	-0.444348	0.01219	T	-0.591338	0.13551	T	0.0510712109656769	0.05687	T	0.712229	0.32360	T	0.046032436	0.07637	0.04918281	0.07460	0.046032436	0.07637	0.04918281	0.07460	-5.187	0.38809	T	.	.	0.211	0.44055	B	.;.	.;.	1.982299	0.25182	16.67	0.91319867747681638	0.20581	0.74181	0.36285	D	AEFDBI	0.102693	0.20594	N	-0.389685222754561	0.25836	1.405449	-0.429164694327941	0.24145	1.320607	0.894757968252337	0.25937	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.37	2.93	0.33092	1.082000	0.30415	2.471000	0.32897	0.756000	0.94297	0.524000	0.27143	0.914000	0.28189	0.008000	0.08271	0.674:0.0:0.3259:0.0	6.001	0.18748	516	0.74704	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1914.98	114	chr14	55351531	.	A	C	1914.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.436e+00;DP=1506;ExcessHet=0.0000;FS=0.583;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=0.777;SOR=0.772	GT:AD:DP:GQ:PL	0/0:106,0:106:99:0,120,1800	20	0	1	0
chr14	55436622	55436622	T	C	exonic	TBPL2	.	nonsynonymous SNV	TBPL2:NM_199047:exon2:c.A547G:p.I183V,	.	.	428	1085	9	0	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.001	B	0.001	B	0.000	N	0.989	N	1.78	L	1.02	T	-1.033	T	0.077	T	0.056	0.805	8.231	0.523	-0.134	2.858	4.703	0.154	0.00739665166023	0.0012	0.00119808	0.0014	0.0003	0.0023	0	0.0008	0.0018	0.0033	0.0004	0.0013454	208	154602	rs145550690	0.0016	0.0016	0.0015	0.0016	0.0073	0.0015	0.0015	0.0055	0.0049	0.0003	0.0024	0.0009	0	0.0012	0.0073	0.0017	0.0015	0.0004	0.0013	0.0013	0.0012	0.0014	0.0023	0.0012	0.0011	0.0017	0.0015	0.0004	0	0.0023	0.0009	0	0.0009	0.0102	0.0018	0.0052	0.0004	0.243	0.17526	T	0.535	0.09931	T	0.001	0.07471	B	0.001	0.04355	B	0.000001	0.84330	N	0.122819	0.989441	0.24295	N	1.43	0.35840	L	1.02	0.40749	T	-0.01	0.07155	N	0.241	0.27197	-1.0328	0.19554	T	0.077	0.30951	T	10	0.008227885	0.00187	T	0.007397	0.19630	T	0.154	0.40340	.	.	0.197625483188	0.19356	0.28908641662893175	0.28821	0.0883002919762	0.09977	0.303474664688	0.10921	T	0.027099	0.19915	T	-0.610941	0.00125	T	-0.656209	0.08524	T	0.0189846946268997	0.00607	T	0.616038	0.23564	T	0.10707245	0.25318	0.0911452	0.21413	0.10707245	0.25318	0.0911452	0.21413	-2.286	0.04479	T	.	.	0.064	0.01715	B	.	.	1.822791	0.23161	15.91	0.65790141536259639	0.07872	0.95282	0.64118	D	AEFDGBI	0.335270	0.43376	N	-0.779401398488174	0.13847	0.6852107	-0.738457756541439	0.16006	0.8446881	0.993435480211755	0.33214	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.82	0.523	0.16255	2.843000	0.47939	0.375000	0.17719	0.519000	0.23678	0.998000	0.41325	0.152000	0.23188	0.971000	0.54645	0.2383:0.1333:0.0:0.6285	4.703	0.12218	414	0.81871	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1185.98	41	chr14	55436622	.	T	C	1185.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.156e+00;DP=806;ExcessHet=0.0000;FS=3.984;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=1.49;SOR=0.387	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,114,1171	20	0	1	0
chr14	55640946	55640946	A	G	exonic	KTN1	.	nonsynonymous SNV	KTN1:NM_001079521:exon16:c.A1997G:p.H666R	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	1.0	D	0.998	D	0.000	D	1.000	N	1.355	L	1.51	T	-1.007	T	0.116	T	0.507	2.797	15.32	3.7	0.783	3.036	9.847	0.230	0.0130765026446	7.7e-05	.	3.339e-05	0	0	0	0	4.546e-05	0.0011	0	3.23e-05	5	154602	rs200602571	4.452e-05	4.515e-05	3.544e-05	5.369e-05	0.0032	3.579e-05	3.261e-05	0.0021	0.0017	0	2.239e-05	0	0	0	0.0032	3.151e-05	0.0001	2.322e-05	3.947e-05	3.94e-05	0	8.079e-05	8.836e-05	1.717e-05	1.131e-05	3.768e-05	2.579e-05	0	0	0	0	0	0	0	8.836e-05	0	0	0.224	0.52492	T	0.348	0.17585	T	0.998	0.90584	D	0.995	0.88582	D	0.000040	0.55875	D	0.000000	0.840081	0.28643	N	1.4	0.35362	L	1.5	0.31205	T	-1.92	0.48020	N	0.364	0.53445	-1.0071	0.27819	T	0.116	0.41053	T	10	0.26137197	0.43596	T	0.013077	0.32199	T	0.230	0.53062	.	.	0.298199939746	0.29431	0.2533112796642886	0.25245	0.0409708077607	0.04395	0.511316239834	0.40407	T	0.097	0.39939	T	-0.236413	0.15810	T	-0.351665	0.39015	T	0.392538964748383	0.28660	T	0.766723	0.39447	T	0.10327285	0.24410	0.15358192	0.36084	0.10327285	0.24410	0.15358192	0.36083	-3.702	0.21659	T	.	.	0.066	0.02228	B	.;.;.;.;.;.	.;.;.;.;.;.	3.580284	0.50466	22.9	0.98387214173160809	0.40915	0.97387	0.74426	D	AEFGBI	0.522355	0.54640	D	0.0952978119567655	0.46243	2.867729	0.0904378413895831	0.44065	2.69561	0.995715728603148	0.34283	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.645665	0.59343	0	.	.	4.87	3.7	0.41607	3.026000	0.49373	4.591000	0.43958	-0.186000	0.09761	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.8472:0.0:0.0:0.1528	9.847	0.40198	386	0.83455	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1035.98	36	chr14	55640946	.	A	G	1035.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.810e+00;DP=801;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.96;ReadPosRankSum=-6.800e-02;SOR=0.752	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1170	20	0	1	0
chr14	56580048	56580048	C	T	exonic	TMEM260	.	nonsynonymous SNV	TMEM260:NM_017799:exon1:c.C134T:p.P45L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.818	P	0.373	B	0.000	D	1.000	D	0.805	L	1.55	T	-1.093	T	0.065	T	0.579	0.459	6.490	4.38	1.207	2.413	7.822	0.230	0.241388146763	8e-05	.	0.0003	0.0010	0	0	0	0	0	0	1.94e-05	3	154602	rs369846175	2.092e-05	1.779e-05	2.069e-05	2.117e-05	7.405e-05	1.393e-05	1.163e-05	1.226e-05	9.18e-06	4.3e-05	0	0	7.405e-05	0	0	1.843e-05	6.818e-05	0	1.97e-05	1.97e-05	2.568e-05	1.344e-05	7.232e-05	5.24e-06	2.45e-06	1.918e-05	1.031e-05	7.232e-05	0	0	0	0	0	0	0	0	0	0.661	0.04685	T	0.661	0.06490	T	0.818	0.45651	P	0.373	0.43650	B	0.000194	0.48115	D	0.142348	0.999993	0.81001	D	1.935	0.51832	L	1.55	0.42888	T	-0.75	0.21215	N	0.493	0.56403	-1.0927	0.05097	T	0.065	0.26878	T	10	0.1501733	0.28408	T	0.241388	0.88715	D	0.230	0.53062	.	.	0.0884992946249	0.08302	0.4973646095926878	0.49657	0.0604557079922	0.06722	0.756614863873	0.75425	T	0.007697	0.07089	T	-0.0674857	0.41728	T	-0.334715	0.40941	T	0.540393114089966	0.34118	D	0.907809	0.67374	D	0.083898336	0.19395	0.087920725	0.20469	0.083898336	0.19395	0.087920725	0.20468	-8.079	0.61608	D	.	.	0.252	0.48715	B	.;.	.;.	3.299696	0.45293	22.1	0.83890260899809543	0.14977	0.68844	0.33957	D	AEFDGBHCI	0.225306	0.34941	N	-0.272638591539961	0.30209	1.68228	-0.220225148526836	0.30812	1.738098	0.999999999833044	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.26	4.38	0.52019	2.521000	0.45224	5.906000	0.50954	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.696000	0.34018	0.16:0.7567:0.0:0.0832	7.822	0.28456	853	0.34956	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	861.98	35	chr14	56580048	.	C	T	861.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.553;DP=760;ExcessHet=0.0000;FS=1.069;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.67;ReadPosRankSum=1.02;SOR=0.960	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,115,1328	20	0	1	0
chr14	57479027	57479027	T	C	splicing	CCDC198	NM_001283060:exon6:c.419-2A>G	.	.	.	.	.	.	.	.	.	.	.	0	0.006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.759e-06	1.368e-06	1.726e-06	1.793e-06	2.172e-06	2.9e-07	1.1e-07	3.6e-07	1.4e-07	0	0	0	0	0	0	2.172e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	539.98	38	chr14	57479027	.	T	C	539.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.261e+00;DP=863;ExcessHet=0.0000;FS=0.938;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.83;ReadPosRankSum=-3.340e-01;SOR=0.859	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr14	58138194	58138194	A	G	exonic	ARMH4	.	nonsynonymous SNV	ARMH4:NM_001001872:exon2:c.T1165C:p.S389P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.989	D	0.885	P	0.214	N	1.000	N	1.735	L	1.68	T	-1.054	T	0.102	T	0.699	3.193	16.69	2.08	0.107	0.322	7.430	0.182	0.00991569293664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.003	0.76473	D	0.989	0.62824	D	0.885	0.62825	P	0.214351	0.16289	N	0.566984	1	0.08975	N	.	.	.	1.68	0.27184	T	-2.49	0.54217	N	0.17	0.18103	-1.0535	0.13440	T	0.102	0.37568	T	10	0.1590898	0.29900	T	0.009916	0.25833	T	0.182	0.45420	0.374	0.38667	0.0666544352282	0.05500	0.13696643335137432	0.13620	0.121842658127	0.13733	.	.	.	0.025561	0.19086	T	-0.0273703	0.47799	T	-0.277092	0.47102	T	0.522264003753662	0.33449	D	0.49655	0.15423	T	0.24250986	0.47179	0.2958181	0.55614	0.24250986	0.47179	0.2958181	0.55613	-4.12	0.25584	T	.	.	0.088	0.11749	B	.	.	1.334307	0.17401	13.14	0.99607788779664785	0.74634	0.04756	0.10462	N	AEFGBCI	0.103078	0.20660	N	-0.222407257448638	0.32215	1.814444	-0.420636230168889	0.24392	1.335448	0.999940150298763	0.47345	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	5.86	2.08	0.26079	0.156000	0.16200	1.252000	0.25176	0.751000	0.87719	0.001000	0.13787	0.087000	0.22477	0.167000	0.20881	0.4904:0.4346:0.075:0.0	7.430	0.26296	875	0.30485	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	321.68	35	chr14	58138194	.	A	G	321.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.825e+00;DP=1819;ExcessHet=0.3300;FS=107.760;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.70;ReadPosRankSum=1.27;SOR=8.424	GT:AD:DP:GQ:PL	0/0:150,32:182:28:0,28,3659	18	0	3	0
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.0	B	0.001	B	0.000	D	1.000	D	0.805	L	-3.44	D	0.114	D	0.666	D	0.186	0.389	6.113	5.8	2.219	4.529	9.930	0.324	0.0362747916202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0	8.123e-05	7.948e-05	1.955e-05	0	0.0003	0.0002	7.24e-05	6.639e-06	2.641e-05	0	1.359e-05	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	0.35	0.12305	T	0.45	0.12957	T	0.0	0.02946	B	0.001	0.04355	B	0.000051	0.53742	D	0.197305	0.974077	0.39075	D	0.06	0.08197	N	-3.44	0.94428	D	-1.31	0.32791	N	0.456	0.49328	0.114	0.84424	D	0.666	0.88403	D	10	0.36079857	0.52715	T	0.036275	0.56887	D	0.324	0.64624	0.434	0.48500	0.993195394259	0.99311	0.5930593215126997	0.59235	0.374889918543	0.38946	0.782578408718	0.79317	T	0.399172	0.75708	T	0.0213512	0.54564	T	-0.207107	0.53971	T	0.59854531288147	0.36343	D	0.833317	0.50212	T	0.060931925	0.12560	0.09373129	0.22154	0.060931925	0.12560	0.09373129	0.22154	-5.421	0.41121	T	.	.	0.486	0.63951	A	.	.	3.186553	0.43278	21.7	0.8580340382623457	0.16122	0.91508	0.53678	D	AEFBI	0.213280	0.33888	N	-0.111420387238393	0.36894	2.138883	0.0755270437198708	0.43321	2.636326	0.9557581108309	0.28208	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	4.582000	0.60668	7.707000	0.66598	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:0.0786:0.0:0.9214	9.930	0.40688	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	2608.12	67	chr14	58213644	.	T	C	2608.12	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.303e+00;DP=1500;ExcessHet=54.0936;FS=246.126;InbreedingCoeff=-0.9696;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=1.77;ReadPosRankSum=0.737;SOR=12.205	GT:AD:DP:GQ:PL	0/1:47,22:69:99:156,0,985	0	0	21	0
chr14	58365301	58365301	G	A	splicing	ARID4A	NM_023001:exon20:c.3211+1G>A;NM_023000:exon20:c.3211+1G>A;NM_002892:exon20:c.3211+1G>A	.	.	.	.	431	1077	13	1	0	15	0.00691563	1.0000	0.932	265402	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.580	18.24	5.37	2.522	8.290	19.092	.	.	0.0048	0.00199681	0.0041	0.0016	0.0017	0	0.0036	0.0059	0.0035	0.0028	0.0042755	661	154602	rs62621193	0.0058	0.0058	0.0059	0.0057	0.0116	0.0057	0.0057	0.0094	0.0086	0.0013	0.0019	0.0098	0	0.0038	0.0116	0.0066	0.0051	0.0029	0.0037	0.0037	0.0041	0.0032	0.0060	0.0034	0.0033	0.0055	0.0053	0.0010	0	0.0022	0.0081	0.0002	0.0034	0.0034	0.0060	0.0005	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0639939	0.60112	T	0.327108	0.89389	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	6.550151	0.95389	35	0.98911125578790615	0.48381	0.99635	0.98202	D	AEFBI	.	.	.	1.1821638468762	0.99370	22.22698	1.03610099662319	0.99211	21.24358	0.999999999820252	0.74766	0.163922	0.03765	0	0.156668	0.03792	0	0.125526	0.03468	0	0.117559	0.03655	0	0.983059	0.89644	5.37	5.37	0.76949	8.494000	0.90314	11.754000	0.95474	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	19.092	0.93212	875	0.30485	.;.;.;.	.	.	.	.	rs62621193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	570.98	39	chr14	58365301	.	G	A	570.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.360e-01;DP=798;ExcessHet=0.0000;FS=1.202;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=-7.500e-01;SOR=1.041	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr14	58407376	58407376	G	A	exonic	TOMM20L	.	nonsynonymous SNV	TOMM20L:NM_207377:exon4:c.G313A:p.E105K,	.	.	430	1091	1	0	0	1	0.000458085	.	.	2329758	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.3	T	0.012	B	0.003	B	0.358	N	0.995	N	0.345	N	1.53	T	-1.023	T	0.034	T	0.172	1.431	10.72	1.92	0.225	0.781	1.754	0.034	0.00588627036843	0.0002	0.000199681	0.0002	0	0.0003	0	0	0.0002	0.0011	0.0006	0.0002005	31	154602	rs141434824	0.0002	0.0002	0.0002	0.0003	0.0013	0.0002	0.0002	0.0011	0.0010	0	0.0002	0	5.048e-05	0	0.0002	0.0002	0.0002	0.0013	0.0003	0.0003	0.0002	0.0003	0.0014	0.0002	0.0002	0.0008	0.0006	7.216e-05	0	0.0012	0	0	0	0	0.0002	0.0005	0.0014	0.011	0.55530	D	0.369	0.16522	T	0.012	0.16265	B	0.003	0.08700	B	0.357595	0.13719	N	0.636489	0.994702	0.23461	N	0.895	0.22405	L	1.53	0.30401	T	-0.28	0.11547	N	0.18	0.19459	-1.0232	0.22671	T	0.034	0.14421	T	10	0.016920984	0.00358	T	0.005886	0.15310	T	0.034	0.08419	.	.	0.0297737177859	0.01360	0.1804886447767995	0.17967	0.570027948751	0.53169	0.303354918957	0.10903	T	0.020022	0.15839	T	-0.483356	0.00707	T	-0.531839	0.19103	T	0.11433757096529	0.13868	T	0.749425	0.37065	T	0.12472191	0.29255	0.07295616	0.15800	0.12472191	0.29255	0.07295616	0.15800	-4.235	0.27255	T	.	.	0.090	0.12702	B	.	.	1.440762	0.18602	13.83	0.9913629225239915	0.53410	0.54850	0.29717	D	AEFBI	0.100906	0.20280	N	-0.833811844005429	0.12451	0.6070487	-0.732494331438149	0.16154	0.8531759	0.661844973568518	0.22279	0.421363	0.06395	0	0.550933	0.16991	0	0.463624	0.06942	0	0.613276	0.41899	0	.	.	4.77	1.92	0.24912	0.808000	0.26813	1.722000	0.28267	-0.722000	0.03793	0.779000	0.29461	0.989000	0.31174	0.020000	0.11549	0.1785:0.1641:0.4877:0.1697	1.754	0.02798	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1303.98	35	chr14	58407376	.	G	A	1303.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.37;DP=819;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=0.071;SOR=0.726	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1073	20	0	1	0
chr14	58442714	58442714	G	A	exonic	KIAA0586	.	nonsynonymous SNV	KIAA0586:NM_001244191:exon5:c.G164A:p.S55N	Joubert syndrome 23, Autosomal recessive;Short-rib thoracic dysplasia 14 with polydactyly, Autosomal recessive	.	434	1085	3	0	0	3	0.00138058	.	.	1483558	Joubert_syndrome_23|Short-rib_thoracic_dysplasia_14_with_polydactyly	MONDO:MONDO:0014664,MedGen:C4084822,OMIM:616490,Orphanet:475|MONDO:MONDO:0014688,MedGen:C4225286,OMIM:616546,Orphanet:397715	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.33	T	0.009	B	0.013	B	0.096	N	0.933	N	0.885	L	0.88	T	-1.059	T	0.059	T	0.119	1.684	11.59	0.544	0.260	0.475	4.988	0.039	0.00454131131482	.	.	.	.	.	.	.	.	.	.	.	.	.	rs754191741	4.957e-06	4.788e-06	4.202e-06	5.729e-06	2.717e-05	2.06e-06	1.33e-06	1.99e-06	1.31e-06	0	2.717e-05	0	0	0	0	5.53e-06	0	0	6.573e-06	6.568e-06	0	1.346e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.257	0.16738	T	0.476	0.12037	T	0.004	0.12183	B	0.006	0.12133	B	0.096135	0.20091	N	0.539236	0.932525	0.27019	N	0.71	0.18616	N	0.88	0.46028	T	-0.83	0.28084	N	0.178	0.19190	-1.0589	0.12032	T	0.059	0.24649	T	10	0.06054777	0.07454	T	0.004541	0.11189	T	0.039	0.10176	0.529	0.63560	0.17258766438	0.16869	0.03956513221446249	0.03902	0.0192408906969	0.01881	0.405057191849	0.25771	T	0.010206	0.38133	T	-0.319016	0.06978	T	-0.632375	0.10235	T	0.0470164567232132	0.04967	T	0.716728	0.33277	T	0.07855085	0.17894	0.05509609	0.09600	0.07855085	0.17894	0.05509609	0.09600	-3.265	0.13290	T	0.1609648922346577	0.19674	0.096	0.15251	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.333981	0.17395	13.14	0.95649655980977955	0.27461	0.46810	0.27842	N	AEFBI	0.025325	0.01716	N	-0.504694696242567	0.21928	1.167289	-0.380591530600119	0.25576	1.407367	0.550435698134122	0.21329	0.615465	0.37627	0	0.601575	0.49859	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.22	0.544	0.16375	0.510000	0.22430	2.314000	0.32094	-0.105000	0.15698	0.649000	0.28163	0.990000	0.31317	0.961000	0.51904	0.3603:0.1535:0.4862:0.0	4.988	0.13546	894	0.26265	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	809.98	35	chr14	58442714	.	G	A	809.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.002e+00;DP=783;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.90;ReadPosRankSum=-6.250e-01;SOR=0.620	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1184	20	0	1	0
chr14	58646513	58646513	G	T	exonic	DACT1	.	nonsynonymous SNV	DACT1:NM_001079520:exon4:c.G1779T:p.K593N	.	YES	8	1512	2	0	0	2	0.000660939	.	.	2417704	Townes-Brocks_syndrome_2	MONDO:MONDO:0054582,MedGen:C4479534,OMIM:617466	no_assertion_criteria_provided	Pathogenic	.	.	.	.	.	.	.	.	0.42	T	0.787	P	0.447	P	0.001	D	1.000	N	1.39	L	0.81	T	-0.998	T	0.110	T	0.102	1.085	9.428	0.88	0.249	1.427	11.258	0.086	0.233038007096	0.0004	.	0.0006	0.0003	0	0	0.0031	0.0008	0	0.0002	0.0002652	41	154602	rs201251394	0.0008	0.0008	0.0008	0.0008	0.0010	0.0008	0.0008	0.0009	0.0009	0.0002	0.0006	0	0	0.0005	0.0009	0.0010	0.0006	0.0001	0.0006	0.0006	0.0005	0.0006	0.0015	0.0005	0.0004	0.0010	0.0009	0.0002	0	0.0015	0	0	0.0002	0.0136	0.0007	0.0005	0	0.016	0.57480	D	0.071	0.43531	T	0.787	0.44504	P	0.447	0.46003	P	0.000521	0.43581	D	0.194731	1	0.08975	N	2.535	0.73915	M	0.81	0.48460	T	-1.88	0.43906	N	0.12	0.16308	-0.9975	0.30618	T	0.110	0.39533	T	10	0.024522454	0.00677	T	0.233038	0.88348	D	0.086	0.25016	0.157	0.06070	0.418638904736	0.41481	0.18788239580635646	0.18706	0.526887597323	0.50308	0.575884640217	0.49507	T	0.034019	0.37431	T	-0.475553	0.00786	T	-0.543822	0.17924	T	0.0527059097581947	0.05968	T	0.773923	0.40554	T	0.11667866	0.27518	0.09860115	0.23514	0.11667866	0.27518	0.09860115	0.23514	-5.723	0.43897	T	.	.	0.891	0.82175	P	.;.;.;.	.;.;.;.	2.507937	0.32389	19.03	0.98646569094332148	0.44123	0.66567	0.33123	D	AEFDBHCI	0.150968	0.27535	N	-0.455302831701151	0.23561	1.266097	-0.517379046468348	0.21681	1.174035	0.99999999154708	0.74766	0.700653	0.57754	0	0.588015	0.36545	0	0.717052	0.78885	0	0.542086	0.14980	0	.	.	5.32	0.88	0.18296	1.673000	0.37150	2.248000	0.31665	-0.135000	0.12811	0.997000	0.40164	0.996000	0.32793	0.098000	0.18187	0.3568:0.0:0.6431:0.0	11.258	0.48295	471	0.78036	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1199.98	64	chr14	58646513	.	G	T	1199.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.750e-01;DP=1323;ExcessHet=0.0000;FS=3.975;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.04;ReadPosRankSum=0.262;SOR=0.362	GT:AD:DP:GQ:PL	0/0:63,0:63:99:0,120,1800	20	0	1	0
chr14	59464190	59464190	G	T	exonic	GPR135	.	nonsynonymous SNV	GPR135:NM_022571:exon1:c.C1037A:p.P346H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	U	1.000	D	3.365	M	-1.37	T	0.665	D	0.730	D	0.901	3.874	19.69	3.53	1.057	5.271	14.379	0.837	0.551111721742	.	.	4.458e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs751542766	1.784e-05	1.779e-05	8.193e-06	2.757e-05	0.0003	1.241e-05	1.054e-05	0.0002	0.0002	0	0	0	0	0	0	0	0	0.0003	6.598e-06	6.58e-06	0	1.351e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	U	0.000000	0.999502	0.47320	D	3.895	0.96086	H	-1.37	0.80214	T	-8.31	0.96992	D	0.733	0.73375	0.665	0.92739	D	0.730	0.90751	D	10	0.9271412	0.92060	D	0.551112	0.95862	D	0.837	0.94877	0.776	0.90157	0.850045053	0.84860	0.9199555592192628	0.91971	.	.	0.610234022141	0.54349	T	0.378147	0.74118	T	0.200091	0.73898	D	0.355617	0.90537	D	0.99738222360611	0.91430	D	0.754325	0.37688	T	0.93274856	0.94512	0.91527253	0.96063	0.93274856	0.94513	0.91527253	0.96064	-15.221	0.96350	D	.	.	0.964	0.88546	P	.	.	4.726637	0.76090	26.4	0.99668684346995662	0.78458	0.90885	0.52445	D	AEFDGBHCI	0.667522	0.63561	D	0.688853024977393	0.78903	6.966031	0.557226904453884	0.71900	5.726067	0.999999999998781	0.74766	0.443343	0.08805	1	0.552344	0.17405	0	0.666236	0.60216	0	0.56751	0.32155	0	.	.	4.44	3.53	0.39533	4.860000	0.62659	8.629000	0.77845	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.1491:0.8509:0.0	14.379	0.66465	783	0.47268	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2478.98	37	chr14	59464190	.	G	T	2478.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.778e+00;DP=884;ExcessHet=0.0000;FS=3.645;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.17;ReadPosRankSum=0.981;SOR=0.997	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1325	20	0	1	0
chr14	59511789	59511789	A	C	exonic	CCDC175	.	nonsynonymous SNV	CCDC175:NM_001164399:exon18:c.T2113G:p.L705V,	.	.	439	1074	9	0	0	9	0.00417246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	.	.	.	.	0.031	N	1.000	N	1.04	L	.	.	-1.051	T	0.042	T	0.247	2.217	13.37	-2.42	-0.457	0.202	4.295	0.038	.	0.0066	0.00199681	0.0058	0	0	0	0.0132	0.0073	0.0182	0.0043	0.001727	267	154602	rs151312451	0.0069	0.0066	0.0070	0.0068	0.0114	0.0068	0.0067	0.0092	0.0084	0.0013	0.0026	0.0087	0	0.0126	0.0114	0.0073	0.0084	0.0035	0.0047	0.0047	0.0050	0.0044	0.0064	0.0044	0.0043	0.0059	0.0057	0.0012	0.0022	0.0024	0.0089	0	0.0136	0.0137	0.0064	0.0047	0.0025	0.013	0.54683	D	0.222	0.33330	T	.	.	.	.	.	.	0.031419	0.25171	N	0.194510	1	0.08975	N	1.1	0.28011	L	1.64	0.27822	T	-1.16	0.29727	N	0.301	0.34012	-1.0511	0.14092	T	0.042	0.18118	T	7	0.0068801343	0.00156	T	.	.	.	.	.	.	.	0.0138822411134	0.00435	0.13619014636764315	0.13543	.	.	0.372611999512	0.21206	T	0.012014	0.19884	T	-0.555013	0.00272	T	-0.565168	0.15894	T	0.0119213725234611	0.00186	T	0.630737	0.24588	T	0.0818266	0.18821	0.07491903	0.16438	0.0818266	0.18820	0.07491903	0.16438	-4.505	0.30954	T	.	.	0.145	0.34840	B	.;.	.;.	1.735399	0.22085	15.47	0.97638046719469562	0.35063	0.10131	0.15721	N	AEFBCI	0.079470	0.16051	N	-1.02899682721902	0.08006	0.3738834	-1.18528046154551	0.06155	0.2953856	0.229958618043329	0.18454	0.525926	0.21836	0	0.547309	0.14657	0	0.547309	0.15389	0	0.584449	0.35598	0	.	.	4.1	-2.42	0.06164	0.193000	0.16921	0.111000	0.14782	-0.662000	0.04349	0.115000	0.23085	0.000000	0.08366	0.107000	0.18608	0.4167:0.0:0.4128:0.1706	4.295	0.10342	786	0.46839	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	984.98	33	chr14	59511789	.	A	C	984.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.530e-01;DP=787;ExcessHet=0.0000;FS=1.883;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=0.696;SOR=0.797	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr14	59563774	59563774	A	G	exonic	CCDC175	.	nonsynonymous SNV	CCDC175:NM_001164399:exon6:c.T806C:p.M269T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.830	N	1.000	N	0.695	N	.	.	-0.994	T	0.082	T	0.32	2.114	13.02	3.66	0.939	0.995	7.862	0.048	0.0210071168386	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1161907568	7.771e-07	3.421e-06	0	1.575e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.862e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.55530	D	0.062	0.45318	T	.	.	.	.	.	.	0.829578	0.06933	N	1.084810	1	0.08975	N	1.59	0.40313	L	1.95	0.22474	T	-1.5	0.37178	N	0.23	0.26717	-0.9942	0.31512	T	0.082	0.32266	T	6	0.08922386	0.15435	T	0.021007	0.43710	T	.	.	.	.	0.0401082797425	0.02173	0.07904080778905133	0.07839	.	.	0.49979954958	0.38800	T	0.005005	0.15323	T	-0.184886	0.23011	T	-0.503353	0.22000	T	0.105510729938476	0.12952	T	0.344066	0.07525	T	0.202784	0.42334	0.16416252	0.38044	0.202784	0.42334	0.16416252	0.38043	-3.066	0.10909	T	.	.	0.429	0.61140	A	.;.	.;.	0.574707	0.09432	6.211	0.81271641111397308	0.13603	0.10123	0.15715	N	AEFBI	0.078179	0.15769	N	-0.463290935519129	0.23292	1.249729	-0.517549088878051	0.21677	1.173761	0.608131181398646	0.21782	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.82	3.66	0.41111	0.976000	0.29059	1.901000	0.29582	0.691000	0.84096	0.001000	0.13787	0.000000	0.08366	0.662000	0.33024	0.8161:0.0:0.0:0.1839	7.862	0.28680	759	0.50631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	304.98	34	chr14	59563774	.	A	G	304.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.110e-01;DP=724;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.10;ReadPosRankSum=-3.100e-02;SOR=0.850	GT:AD:DP:GQ:PL	0/1:33,17:50:99:319,0,811	20	0	1	0
chr14	59966674	59966674	C	T	exonic	LRRC9	.	nonsynonymous SNV	LRRC9:NM_001355272:exon11:c.C1297T:p.R433C,	.	.	462	1046	12	2	0	16	0.00759013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00479233	0.0070	0.0018	0.0106	0	0.0031	0.0153	0.0054	0.0042	0.002445	378	154602	rs35533709	0.0091	0.0082	0.0092	0.0089	0.0116	0.0089	0.0088	0.0113	0.0112	0.0025	0.0051	0.0187	3.125e-05	0.0039	0.0097	0.0116	0.0090	0.0042	0.0077	0.0078	0.0084	0.0071	0.0123	0.0074	0.0072	0.0116	0.0114	0.0024	0.0252	0.0048	0.0188	0	0.0034	0.0102	0.0123	0.0114	0.0031	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	0.999998	0.58761	D	.	.	.	1.57	0.29342	T	-6.13	0.90100	D	0.717	0.71942	.	.	.	.	.	.	.	0.0050485134	0.00109	T	.	.	.	.	.	.	.	0.589041309526	0.58578	0.5787901198776813	0.57808	.	.	.	.	.	0.141614	0.47676	T	-0.196966	0.21244	T	-0.0446739	0.67385	D	.	.	.	0.888211	0.62120	D	0.35072795	0.57124	0.34869695	0.60505	0.35072795	0.57124	0.34869695	0.60505	-7.91	0.60455	D	.	.	0.225	0.45653	B	.;.	.;.	4.924815	0.81138	27.5	0.99943290174205235	0.99848	0.72050	0.35281	D	AEFBI	0.588176	0.58554	D	.	.	.	.	.	.	0.970891578199924	0.29243	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.48	5.48	0.80675	2.657000	0.46389	5.920000	0.51151	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.885000	0.42453	0.1527:0.8473:0.0:0.0	13.869	0.63106	496	0.76301	.;.	L3HYPDH|GPR135|L3HYPDH|L3HYPDH|L3HYPDH|L3HYPDH|GPR135|L3HYPDH|GPR135|GPR135|L3HYPDH|L3HYPDH|L3HYPDH|L3HYPDH|L3HYPDH|L3HYPDH|GPR135|L3HYPDH|GPR135|L3HYPDH|GPR135|L3HYPDH|L3HYPDH|L3HYPDH|L3HYPDH|L3HYPDH	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Coronary|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Stomach|Testis|Thyroid|Whole_Blood	L3HYPDH	Artery_Tibial	rs35533709	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1467.98	37	chr14	59966674	.	C	T	1467.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.895;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=-2.560e-01;SOR=0.691	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1228	20	0	1	0
chr14	59977224	59977224	G	A	splicing	LRRC9	NM_001355272:exon14:c.1640-1G>A	.	.	.	.	461	1058	3	0	0	3	0.00141576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0014	0	0	0	0.0006	0.0038	0	0.0005	0.0002199	34	154602	rs138661438	0.0006	0.0005	0.0006	0.0006	0.0075	0.0006	0.0005	0.0054	0.0046	0.0001	0.0006	0.0034	0	9.118e-05	0.0075	0.0005	0.0009	0.0004	0.0005	0.0005	0.0005	0.0004	0.0012	0.0004	0.0003	0.0008	0.0007	7.236e-05	0	0.0012	0.0038	0	0	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16688	0.70837	D	0.382662	0.91525	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	6.046651	0.94428	34	0.99517706594056354	0.69040	0.95759	0.66033	D	AEFBI	.	.	.	.	.	.	.	.	.	0.972720049685193	0.29394	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.97763	0.81376	5.86	5.86	0.93936	6.955000	0.75805	11.838000	0.97738	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.892000	0.42986	0.0:0.0:1.0:0.0	19.794	0.96465	502	0.75873	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	617.98	34	chr14	59977224	.	G	A	617.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.821;DP=719;ExcessHet=0.0000;FS=1.394;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.07;ReadPosRankSum=0.667;SOR=1.179	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1062	20	0	1	0
chr14	60116008	60116008	G	A	exonic	PCNX4	.	nonsynonymous SNV	PCNX4:NM_022495:exon5:c.G824A:p.S275N	.	.	439	1069	14	0	0	14	0.00650558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.001	B	0.001	B	.	.	1.000	N	-0.02	N	1.92	T	-0.948	T	0.019	T	0.071	-1.341	0.030	-5.49	-1.202	-0.223	12.470	0.012	.	0.0036	0.00359425	0.0050	0.0011	0.0024	0	0.0007	0.0041	0.0025	0.0178	0.0042949	664	154602	rs137987112	0.0046	0.0047	0.0043	0.0050	0.0150	0.0045	0.0045	0.0143	0.0141	0.0009	0.0020	0.0034	0	0.0007	0.0059	0.0044	0.0043	0.0150	0.0031	0.0031	0.0029	0.0032	0.0157	0.0028	0.0028	0.0129	0.0119	0.0009	0	0.0029	0.0029	0	0.0011	0.0068	0.0041	0.0024	0.0157	0.963	0.02847	T	0.699	0.05747	T	0.0	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.025	0.05070	N	1.89	0.23688	T	0.36	0.05217	N	0.176	0.19190	-0.9481	0.41296	T	0.019	0.07753	T	9	0.0031654537	0.00053	T	.	.	.	0.012	0.01476	.	.	0.0551355673512	0.04727	0.23817201030084395	0.23731	0.0121123823965	0.01151	0.349533617496	0.17854	T	0.002009	0.02778	T	-0.689319	0.00042	T	-0.749962	0.03487	T	0.00166663557928363	0.00017	T	0.553945	0.19167	T	0.030974612	0.02854	0.055417635	0.09718	0.030974612	0.02853	0.055417635	0.09718	-3.771	0.20372	T	.	.	0.073	0.05360	B	.;.;.	.;.;.	-0.497068	0.01876	0.153	0.29833776849009291	0.01602	0.02840	0.07590	N	AEFBI	0.064173	0.12445	N	-1.52845522687434	0.01665	0.0728274	-1.54804971732925	0.01989	0.0908814	0.999993698266177	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.76	-5.49	0.02381	-0.226000	0.09144	-0.998000	0.06656	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.172000	0.21044	0.633:0.0866:0.2804:0.0	12.470	0.55118	603	0.67726	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	328.98	34	chr14	60116008	.	G	A	328.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.732;DP=721;ExcessHet=0.0000;FS=1.427;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.65;ReadPosRankSum=0.493;SOR=1.112	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1183	20	0	1	0
chr14	60118678	60118678	C	T	exonic	PCNX4	.	nonsynonymous SNV	PCNX4:NM_022495:exon6:c.C1226T:p.A409V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.18	B	0.03	B	0.000	D	1.000	D	2.24	M	1.84	T	-1.093	T	0.072	T	0.408	3.456	17.71	5.23	1.487	4.358	12.417	0.075	0.00881927067505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.04e-06	8.893e-06	1.112e-05	2.853e-06	9.202e-06	3.56e-06	2.6e-06	4.65e-06	3.39e-06	0	0	0	0	0	0	9.202e-06	0	0	6.566e-06	6.562e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.029	0.46129	D	0.196	0.43159	T	0.089	0.29046	B	0.017	0.21741	B	0.000000	0.84330	D	0.000000	0.999984	0.81001	D	1.93	0.51437	L	1.82	0.25182	T	-2.27	0.51811	N	0.214	0.25745	-1.0926	0.05112	T	0.072	0.29098	T	10	0.1736612	0.32205	T	0.008819	0.23269	T	0.075	0.21907	0.234	0.16305	0.180583059064	0.17676	0.6838740608051214	0.68326	0.0129856072913	0.01249	0.433189749718	0.29645	T	0.019989	0.24493	T	-0.0964561	0.37010	T	-0.376329	0.36151	T	0.776760935783386	0.44849	D	0.869013	0.57479	D	0.2856421	0.51585	0.22314222	0.47183	0.2856421	0.51584	0.22314222	0.47182	-5.461	0.41502	T	.	.	0.117	0.26232	B	.;.;.	.;.;.	3.369484	0.46553	22.3	0.99739434161826201	0.83409	0.98257	0.80997	D	AEFGBI	0.513372	0.54120	D	0.0874368603353201	0.45876	2.837015	0.23228248409557	0.51646	3.345476	0.999997430377815	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.16	5.23	0.72570	4.481000	0.59983	4.883000	0.45686	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.8531:0.0:0.1469	12.417	0.54835	603	0.67726	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1371.98	34	chr14	60118678	.	C	T	1371.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.395e+00;DP=856;ExcessHet=0.0000;FS=0.769;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.86;ReadPosRankSum=0.375;SOR=0.593	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,102,1530	20	0	1	0
chr14	61322255	61322255	G	A	exonic	PRKCH	.	nonsynonymous SNV	PRKCH:NM_006255:exon1:c.G154A:p.V52M,	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.759	P	0.674	P	0.064	N	1.000	D	1.75	L	-0.41	T	-0.436	T	0.344	T	0.264	3.349	17.28	5.38	2.518	4.110	14.030	0.169	0.0222962463952	0.0003	.	0.0001	0	0.0004	0	0	0.0002	0	0	0.0001488	23	154602	rs148375974	0.0001	0.0001	0.0001	9.764e-05	0.0005	9.334e-05	8.817e-05	0.0002	0.0002	0.0001	0.0003	0.0028	0	0	0.0005	4.586e-05	0.0002	0	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	8.762e-05	9.064e-05	7.024e-05	0	0	0.0002	0.0023	0	0	0	0.0002	0.0005	0	0.206	0.19927	T	0.202	0.27414	T	0.759	0.43487	P	0.674	0.53247	P	0.063512	0.22019	N	0.319059	0.735056	0.33760	D	1.735	0.44892	L	-0.41	0.69413	T	-0.34	0.13805	N	0.365	0.40665	-0.4361	0.70860	T	0.344	0.70972	T	10	0.047124267	0.03989	T	0.022296	0.45174	T	0.169	0.43123	.	.	0.673641331446	0.67087	0.24251554605195047	0.24165	1.06490229316	0.76599	0.705440104008	0.67931	T	0.127494	0.69413	T	-0.270606	0.11688	T	-0.320506	0.42519	T	0.142343838684458	0.16475	T	0.952605	0.81930	D	0.15044874	0.34249	0.081689864	0.18585	0.15044874	0.34249	0.081689864	0.18585	-6.024	0.46480	T	.	.	0.132	0.28377	B	.;.	.;.	4.244129	0.64366	24.7	0.99816910082613941	0.90061	0.77111	0.37879	D	AEFDGBHCI	0.434706	0.49565	N	0.508355659364332	0.67582	5.100959	0.549957850695702	0.71395	5.648244	0.99999999999207	0.74766	0.65757	0.49021	0	0.52208	0.09955	0	0.619478	0.44681	0	0.56214	0.19341	0	.	.	5.38	5.38	0.77279	3.503000	0.53100	8.666000	0.77991	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.849:0.151	14.030	0.64130	330	0.86467	C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4403.98	33	chr14	61322255	.	G	A	4403.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.97;DP=1033;ExcessHet=0.0000;FS=1.377;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.81;ReadPosRankSum=-8.730e-01;SOR=0.803	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1117	20	0	1	0
chr14	61738101	61738101	G	T	exonic	HIF1A	.	nonsynonymous SNV	HIF1A:NM_001243084:exon10:c.G1336T:p.D446Y	.	YES	453	1050	15	4	0	23	0.0108337	.	.	714184	not_provided|Enchondromatosis	MedGen:C3661900|Human_Phenotype_Ontology:HP:0005701,MONDO:MONDO:0008145,MedGen:C0014084,OMIM:166000,Orphanet:296	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.592	P	0.285	B	0.897	N	0.999	D	0.805	L	0.72	T	-1.042	T	0.088	T	0.513	2.656	14.84	5.41	2.699	4.941	12.867	0.120	.	0.0025	0.00339457	0.0042	0.0010	0.0052	0.0005	0.0003	0.0029	0.0059	0.0176	0.0038292	592	154602	rs149348765	0.0031	0.0031	0.0027	0.0035	0.0135	0.0030	0.0030	0.0128	0.0126	0.0005	0.0046	0.0046	0	0.0005	0.0098	0.0024	0.0039	0.0135	0.0026	0.0026	0.0026	0.0025	0.0119	0.0024	0.0023	0.0094	0.0085	0.0005	0.0011	0.0058	0.0038	0	0.0003	0.0210	0.0028	0.0038	0.0119	0.181	0.34982	T	0.274	0.44905	T	0.592	0.39119	P	0.285	0.40506	B	0.896885	0.07331	N	1.042340	0.999185	0.46274	D	1.67	0.42885	L	0.72	0.53516	T	-0.1	0.09135	N	0.421	0.46649	-1.0418	0.16770	T	0.088	0.33996	T	10	0.0072448254	0.00165	T	.	.	.	0.120	0.33359	.	.	0.689415230096	0.68675	0.36735301686045585	0.36649	0.206240801215	0.23047	0.452856063843	0.32334	T	0.306052	0.67827	T	-0.366052	0.03799	T	-0.287553	0.46027	T	0.0361810151235074	0.03013	T	0.938006	0.76748	D	0.104620844	0.24733	0.08811645	0.20524	0.104620844	0.24732	0.08811645	0.20524	-3.748	0.20029	T	.	.	0.098	0.16973	B	.;.;.;.;.	.;.;.;.;.	4.278755	0.65166	24.8	0.98733365136089013	0.45393	0.99019	0.90044	D	AEFDGBHIJ	0.787473	0.71724	D	0.295016695125541	0.55897	3.753701	0.42240438769022	0.62963	4.52103	0.999999694060353	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.41	5.41	0.78313	5.380000	0.65953	9.810000	0.81742	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0749:0.0:0.9251:0.0	12.867	0.57332	679	0.60090	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	907.98	40	chr14	61738101	.	G	T	907.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.440e-01;DP=811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.76;ReadPosRankSum=-1.420e-01;SOR=0.828	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr14	61970218	61970218	C	A	exonic	SYT16	.	nonsynonymous SNV	SYT16:NM_001367652:exon2:c.C100A:p.L34M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.771e-06	0	0	.	0	0	.	.	0	.	.	.	0	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16277835	0.30498	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.319168	0.06405	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.42332	B	.	.	1.561910	0.20005	14.54	0.65622932473506601	0.07825	0.78585	0.38793	D	AEFGI	.	.	.	.	.	.	.	.	.	0.240648770621095	0.18567	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.058706	0.01089	0	0.176411	0.29265	4.72	0.742	0.17490	0.766000	0.26225	1.447000	0.26575	-0.172000	0.11096	0.999000	0.42656	1.000000	0.68203	0.986000	0.61781	0.1425:0.5829:0.1263:0.1484	3.681	0.07846	829	0.39537	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	32.13	1	chr14	61970218	.	C	A	32.13	.	AC=1;AF=0.050;AN=20;BaseQRankSum=0.00;DP=49;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1581;MLEAC=2;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=8.03;ReadPosRankSum=-1.383e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,12	9	0	1	11
chr14	62075225	62075225	A	G	exonic	SYT16	.	nonsynonymous SNV	SYT16:NM_001367654:exon3:c.A284G:p.E95G	.	.	432	1085	5	0	0	5	0.00229885	.	.	2354686	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.997	D	0.935	D	0.002	N	1.000	N	1.955	M	3.58	T	-0.865	T	0.183	T	0.622	2.862	15.53	5.65	2.371	4.531	11.879	0.122	0.00494957336755	0.0002	.	0.0003	0	0	0	0	0.0003	0.0012	0.0006	0.0002135	33	154602	rs200718503	0.0002	0.0002	0.0001	0.0002	0.0016	0.0002	0.0002	0.0008	0.0006	0	4.478e-05	0.0012	0	0	0.0016	0.0001	0.0004	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0001	0.0001	2.415e-05	0	0.0003	0.0020	0	0	0	0.0002	0.0024	0	.	.	.	0.069	0.43913	T	0.616	0.39820	P	0.347	0.42698	B	0.001843	0.37840	N	0.268308	1	0.08975	N	2.765	0.80766	M	.	.	.	.	.	.	0.44	0.47857	-0.8653	0.50878	T	0.183	0.53072	T	10	0.05507806	0.05965	T	0.00495	0.12473	T	.	.	.	.	0.476676017676	0.47298	0.24034885280259694	0.23948	.	.	0.330139964819	0.14955	T	0.092051	0.38923	T	-0.152198	0.27967	T	-0.126397	0.61274	T	0.191630457771616	0.19940	T	0.687731	0.32075	T	0.15478289	0.35016	0.31444454	0.57436	0.15478289	0.35016	0.31444454	0.57435	-3.411	0.15204	T	.	.	0.093	0.14247	B	.;.	.;.	2.587460	0.33558	19.38	0.99848893708914011	0.92838	0.90689	0.52076	D	AEFGBI	0.520647	0.54542	D	0.300652966553588	0.56181	3.78261	0.255353430962218	0.52953	3.466967	0.0404734449315391	0.14441	0.516011	0.20929	0	0.547309	0.14657	0	0.573078	0.19857	0	0.586402	0.36253	0	.	.	5.65	5.65	0.86881	4.818000	0.62347	5.746000	0.49600	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.314000	0.24830	0.9309:0.0:0.0691:0.0	11.879	0.51841	842	0.36989	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1009.98	37	chr14	62075225	.	A	G	1009.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.274e+00;DP=775;ExcessHet=0.0000;FS=3.123;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=-5.200e-01;SOR=1.077	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1246	20	0	1	0
chr14	63599584	63599584	C	T	exonic	WDR89	.	nonsynonymous SNV	WDR89:NM_001258272:exon3:c.G359A:p.S120N	.	.	436	1072	14	0	0	14	0.00648749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.982	D	0.000	D	1.000	D	2.42	M	1.32	T	0.030	D	0.516	D	0.363	3.906	19.86	5.62	2.822	5.217	20.038	0.381	0.0594224361531	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049802936	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0077	0.0001	0.0002	0.0006	0.0001	0.0001	0.0002	0.0002	0.0003	0	0.0001	0.0003	0	9.703e-05	0	0.0001	0	0.0006	0.007	0.59928	D	0.039	0.51112	D	1.0	0.90584	D	0.982	0.75477	D	0.000001	0.84330	D	0.091231	0.999886	0.50402	D	2.965	0.85198	M	-0.43	0.69657	T	-2.55	0.56144	D	0.808	0.89353	0.030	0.82846	D	0.516	0.81864	D	10	0.729669	0.74211	D	0.059422	0.67659	D	0.381	0.69863	0.656	0.79379	0.877729270176	0.87653	0.7186202673877694	0.71805	0.524831200014	0.50162	0.595262765884	0.52236	T	0.207992	0.56779	T	0.0332654	0.56159	T	-0.189993	0.55590	T	0.930429217723231	0.59512	D	0.827217	0.49530	T	0.48401013	0.66143	0.44344863	0.67561	0.48401013	0.66143	0.44344863	0.67561	-7.728	0.59202	D	.	.	0.629	0.73000	P	.;.;.;.	.;.;.;.	4.225425	0.63950	24.6	0.99573687300498392	0.72561	0.98290	0.81308	D	AEFGBI	0.614141	0.60157	D	0.825638100531887	0.87680	9.302957	0.800925121913269	0.89858	10.15104	0.999999957718002	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	5.225000	0.65124	6.012000	0.52660	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	20.038	0.97569	854	0.34840	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	523.33	37	chr14	63599584	.	C	T	523.33	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.226e+00;DP=1226;ExcessHet=0.1072;FS=11.265;InbreedingCoeff=-0.0563;MLEAC=2;MLEAF=0.048;MQ=59.00;MQRankSum=-1.084e+01;QD=1.30;ReadPosRankSum=-2.818e+00;SOR=1.950	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1240	19	0	2	0
chr14	63599585	63599585	T	G	exonic	WDR89	.	nonsynonymous SNV	WDR89:NM_001258272:exon3:c.A358C:p.S120R	.	.	436	1070	16	0	0	16	0.00742115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.982	D	0.000	D	1.000	D	2.42	M	1.3	T	0.036	D	0.492	T	0.976	3.357	17.31	5.62	2.277	4.261	16.132	0.636	0.079113870758	.	.	.	.	.	.	.	.	.	.	.	.	.	rs889833191	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0079	0.0002	0.0003	0.0009	0.0002	0.0001	0.0003	0.0002	0.0004	0	0.0001	0.0003	0	9.696e-05	0	0.0001	0	0.0009	0.003	0.68238	D	0.04	0.50809	D	1.0	0.90584	D	0.982	0.75477	D	0.000001	0.84330	D	0.091231	0.999942	0.51968	D	2.965	0.85198	M	-0.44	0.69777	T	-3.76	0.71276	D	0.929	0.96758	0.036	0.82979	D	0.492	0.80698	T	10	0.849964	0.84171	D	0.079114	0.73159	D	0.636	0.86078	0.731	0.86460	0.915439794578	0.91458	0.8468957044921087	0.84650	0.578397025268	0.53743	0.607123553753	0.53909	T	0.217029	0.57935	T	0.339169	0.85780	D	0.249416	0.85593	D	0.985822659318314	0.76706	D	0.857114	0.55085	D	0.7603168	0.81472	0.71975005	0.83454	0.7603168	0.81473	0.71975005	0.83455	-12.65	0.87870	D	.	.	0.973	0.91683	P	.;.;.;.	.;.;.;.	4.634787	0.73723	26.0	0.99807925437057288	0.89174	0.97372	0.74333	D	AEFGBI	0.609297	0.59855	D	0.730345460544241	0.81622	7.565515	0.701598012198421	0.82500	7.782416	0.99988785508351	0.44867	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	4.180000	0.58093	7.924000	0.74674	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	16.132	0.81260	854	0.34840	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	565.33	37	chr14	63599585	.	T	G	565.33	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.154;DP=1229;ExcessHet=0.1072;FS=11.265;InbreedingCoeff=-0.0563;MLEAC=2;MLEAF=0.048;MQ=58.99;MQRankSum=-1.084e+01;QD=1.40;ReadPosRankSum=-3.100e+00;SOR=1.995	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1240	19	0	2	0
chr14	63599647	63599647	G	A	exonic	WDR89	.	nonsynonymous SNV	WDR89:NM_001258272:exon3:c.C296T:p.A99V	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.028	N	0.974	N	0.55	N	1.72	T	-1.020	T	0.105	T	0.332	-1.894	0.008	3.69	1.436	1.174	9.067	0.105	0.0145605114255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.028159	0.25646	N	0.429788	0.97414	0.25508	N	0.535	0.13693	N	-0.03	0.63077	T	1.44	0.00794	N	0.049	0.04426	-1.0195	0.23877	T	0.105	0.38341	T	10	0.09150803	0.16035	T	0.014561	0.34757	T	0.105	0.29889	0.264	0.20946	0.376745185316	0.37282	0.2478355583147812	0.24697	0.112047080189	0.12641	0.303955316544	0.10993	T	0.020035	0.15845	T	-0.11573	0.33825	T	-0.404015	0.32918	T	0.0501358695328236	0.05523	T	0.767423	0.39759	T	0.016234163	0.00184	0.03721827	0.03327	0.016234163	0.00184	0.03721827	0.03327	-2.537	0.06039	T	.	.	0.087	0.13456	B	.;.;.;.	.;.;.;.	0.947152	0.13229	9.732	0.64409535851259925	0.07486	0.80416	0.40060	D	AEFGBI	0.130632	0.24926	N	-0.758421672255577	0.14405	0.7173128	-0.570680481869758	0.20259	1.090669	0.988096105615833	0.31417	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.63	3.69	0.41483	1.262000	0.32594	4.419000	0.43309	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.897000	0.43391	0.2761:0.0:0.7239:0.0	9.067	0.35628	854	0.34840	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3095.98	225	chr14	63599647	.	G	A	3095.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.655;DP=3035;ExcessHet=0.0000;FS=0.973;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.43;ReadPosRankSum=-3.670e-01;SOR=0.789	GT:AD:DP:GQ:PL	0/0:219,0:219:99:0,120,1800	20	0	1	0
chr14	63599753	63599753	G	A	exonic	WDR89	.	stopgain	WDR89:NM_001258272:exon3:c.C190T:p.R64X	.	.	430	1077	15	0	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	4.496	24.1	4.69	2.826	2.723	16.526	.	.	.	.	1.655e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs200681506	8.895e-06	3.831e-05	1.225e-05	5.502e-06	2.319e-05	4.96e-06	3.83e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	5.396e-06	8.281e-05	2.319e-05	0.0002	0.0074	0.0002	0.0003	0.0004	0.0002	0.0001	0.0002	0.0001	0.0003	0	0.0004	0	0	0.0003	0	0.0001	0.0015	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.000463	0.44119	D	0.194702	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.144	0.27435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.481121	0.93742	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;Recessive;.	High;.;High;.	7.339368	0.96413	36	0.99756467363359924	0.84694	0.94639	0.61825	D	AEFGBI	0.098617	0.19868	N	0.909272293390907	0.92206	11.29225	0.757728745137247	0.86734	8.984897	0.999972014400061	0.50053	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.63	4.69	0.58546	2.909000	0.48456	5.651000	0.49183	-0.680000	0.04236	1.000000	0.71638	0.992000	0.31684	0.036000	0.13842	0.0:0.0:0.8692:0.1308	16.526	0.84179	854	0.34840	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	536.85	53	chr14	63599753	.	G	A	536.85	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.700e-02;DP=1783;ExcessHet=0.3300;FS=7.440;InbreedingCoeff=-0.0767;MLEAC=3;MLEAF=0.071;MQ=59.03;MQRankSum=-1.129e+01;QD=0.85;ReadPosRankSum=-1.960e+00;SOR=1.886	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:205,15:220:13:0|1:63599753_G_A:13,0,8520:63599753	18	0	3	0
chr14	63599773	63599773	T	C	exonic	WDR89	.	nonsynonymous SNV	WDR89:NM_001258272:exon3:c.A170G:p.K57R	.	.	431	1085	6	0	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.034	B	0.01	B	0.000	D	0.703	N	0.345	N	1.61	T	-0.957	T	0.113	T	0.21	0.197	5.059	5.63	2.281	1.485	8.743	0.081	0.00510807500172	.	.	.	.	.	.	.	.	.	.	.	.	.	rs901666396	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	2.002e-05	0.0027	2.605e-05	1.368e-05	6.652e-05	5.32e-06	2.48e-06	.	.	2.461e-05	0	6.652e-05	0	0	9.59e-05	0	0	0	0	0.517	0.07330	T	0.721	0.05327	T	0.034	0.20480	B	0.01	0.14941	B	0.000180	0.48594	D	0.205247	0.703363	0.30082	N	2.155	0.60227	M	-0.15	0.65192	T	-0.35	0.12847	N	0.075	0.07262	-0.9571	0.39717	T	0.113	0.40307	T	10	0.12324116	0.23392	T	0.005108	0.12970	T	0.081	0.23632	0.535	0.64439	0.656961720716	0.65409	0.3911789445950797	0.39032	0.0940757242982	0.10619	0.339419215918	0.16351	T	0.023761	0.18078	T	-0.115425	0.33875	T	-0.403576	0.32968	T	0.191546842455864	0.19936	T	0.781422	0.41649	T	0.028487818	0.02194	0.034389522	0.02497	0.028487818	0.02194	0.034389522	0.02497	-3.76	0.20208	T	.	.	0.074	0.11317	B	.;.;.;.	.;.;.;.	1.968509	0.25009	16.61	0.87872483150214187	0.17544	0.82077	0.41361	D	AEFGBI	0.141147	0.26325	N	-0.238387938740899	0.31569	1.771506	-0.00565315919314946	0.39460	2.339944	0.999533698633903	0.40238	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.63	5.63	0.86108	1.604000	0.36415	4.239000	0.42696	-0.665000	0.04339	1.000000	0.71638	1.000000	0.68203	0.855000	0.40485	0.0:0.1114:0.0:0.8886	8.743	0.33732	854	0.34840	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	52.98	53	chr14	63599773	.	T	C	52.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.04;DP=1102;ExcessHet=0.0000;FS=20.567;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.09;MQRankSum=-1.254e+01;QD=0.28;ReadPosRankSum=-2.005e+00;SOR=3.442	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:62,0:62:99:.:.:0,120,1800	20	0	1	0
chr14	64024985	64024985	C	T	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon40:c.C5914T:p.P1972S	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.84	T	0.0	B	0.0	B	0.847	N	1.000	N	-0.805	N	1.3	T	-0.991	T	0.027	T	0.053	-0.670	1.069	2.4	0.063	-0.200	1.361	0.031	0.00614304222766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.575e-06	6.567e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	1.0	0.02442	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.846977	0.07034	N	1.093260	1	0.08975	N	-1.04	0.01097	N	1.3	0.35590	T	0.53	0.02993	N	0.047	0.02759	-0.9908	0.32398	T	0.027	0.11529	T	10	0.021880388	0.00533	T	0.006143	0.16082	T	0.031	0.07369	.	.	0.0954503805726	0.09146	0.022126609623920487	0.02164	0.0474878984086	0.05180	0.284060716629	0.08065	T	0.004124	0.15622	T	-0.342828	0.05194	T	-0.730225	0.04317	T	0.0407413379714851	0.03825	T	0.181482	0.01827	T	0.022033945	0.00840	0.038019847	0.03581	0.022033945	0.00840	0.038019847	0.03581	-2.472	0.05593	T	.	.	0.06	0.00934	B	.;.;.;.	.;.;.;.	0.679272	0.10477	7.194	0.51176841716870924	0.04516	0.00429	0.02107	N	AEFGBI	0.011820	0.00113	N	-1.39682090109197	0.02668	0.1181404	-1.29970176351436	0.04435	0.2091917	0.0187855660569027	0.13096	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.87	2.4	0.28568	-0.203000	0.09440	0.287000	0.16831	-0.108000	0.15293	0.000000	0.06391	0.000000	0.08366	0.522000	0.29520	0.1426:0.1676:0.1501:0.5396	1.361	0.02060	696	0.58299	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1269.98	40	chr14	64024985	.	C	T	1269.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.03;DP=909;ExcessHet=0.0000;FS=11.056;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=0.105;SOR=1.692	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,102,1530	20	0	1	0
chr14	64070795	64070795	C	G	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon52:c.C10582G:p.L3528V	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	0	1516	6	0	0	6	0.00197498	.	.	338268	Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant|not_provided	MONDO:MONDO:0013072,MedGen:C2751805,OMIM:612999,Orphanet:261|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.05	D	0.998	D	0.916	D	0.015	N	0.670	D	0.975	L	3.49	T	-0.321	T	0.298	T	0.32	0.435	6.363	3.39	1.292	0.638	9.241	0.079	0.102848735282	8.3e-05	0.000998403	0.0010	0	0	0.0002	0	7.493e-05	0	0.0071	0.0008344	129	154602	rs374649578	0.0004	0.0004	0.0002	0.0007	0.0065	0.0004	0.0004	0.0060	0.0059	0	0	0	2.519e-05	0	0.0016	3.237e-05	0.0003	0.0065	0.0002	0.0002	0.0001	0.0003	0.0033	0.0001	0.0001	0.0021	0.0017	2.406e-05	0	0	0	0	0	0	0.0001	0.0009	0.0033	0.003	0.72154	D	0.045	0.92824	D	0.998	0.73220	D	0.916	0.65201	D	0.015460	0.28243	N	0.167242	0.669785	0.33131	D	2.71	0.79292	M	0.09	0.69287	T	-2.41	0.52938	N	0.412	0.51851	-0.3213	0.74385	T	0.298	0.66896	T	10	0.006443143	0.00146	T	0.102849	0.77655	D	0.079	0.23065	.	.	0.602320007227	0.59914	0.23320068063062413	0.23235	0.325746393183	0.34721	0.380660325289	0.22349	T	0.032	0.51760	T	-0.354174	0.04470	T	-0.277937	0.47015	T	0.0520117384178765	0.05849	T	0.90141	0.65732	D	0.1355319	0.31452	0.19977151	0.43875	0.13400768	0.31150	0.21683747	0.46324	-4.436	0.30042	T	.	.	0.206	0.43241	B	.;.;.;.;.	.;.;.;.;.	1.802338	0.22907	15.81	0.9726075194931455	0.33089	0.27140	0.23193	N	AEFGBI	0.081914	0.16580	N	-0.0820432313283548	0.38180	2.232241	-0.210684408082149	0.31150	1.760288	0.702175986192822	0.22714	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.47	3.39	0.37919	0.662000	0.24721	1.078000	0.23865	0.599000	0.40250	0.280000	0.25141	0.557000	0.25500	0.158000	0.20581	0.0:0.74:0.0:0.26	9.241	0.36656	614	0.66605	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	776.98	33	chr14	64070795	.	C	G	776.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.299;DP=763;ExcessHet=0.0000;FS=0.825;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.25;ReadPosRankSum=-3.330e-01;SOR=0.811	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1024	20	0	1	0
chr14	64125137	64125137	C	T	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon71:c.C13481T:p.T4494I	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.534	P	0.283	B	0.000	D	1.000	D	0.895	L	4.01	T	-0.968	T	0.152	T	0.268	1.591	11.28	4.95	2.764	1.373	10.568	0.042	0.0429659292901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.51853	T	0.002	0.79402	D	0.319	0.32965	B	0.106	0.31143	B	0.000063	0.52346	D	0.000000	1	0.81001	D	2.175	0.60977	M	0.65	0.64630	T	-2.79	0.61435	D	0.416	0.45992	-0.9681	0.37592	T	0.152	0.48153	T	10	0.14874935	0.28163	T	0.042966	0.60739	D	0.042	0.11227	0.41	0.44559	0.50557994651	0.50197	0.3832851948462289	0.38243	0.322598077182	0.34443	0.46203494072	0.33590	T	0.031528	0.48038	T	-0.0624294	0.42527	T	-0.327452	0.41753	T	0.850886404514313	0.50242	D	0.810219	0.58827	T	0.14395137	0.33063	0.12859504	0.30937	0.14395137	0.33063	0.12859504	0.30936	-3.594	0.17770	T	.	.	0.391	0.59085	A	.;.;.;.;.	.;.;.;.;.	3.284626	0.45021	22.1	0.9045738284007101	0.19715	0.61706	0.31563	D	AEFBCI	0.078357	0.15808	N	-0.0317437912186275	0.40421	2.400194	0.12695373522391	0.45932	2.847769	0.368995984227818	0.19851	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.84	4.95	0.64894	1.417000	0.34378	3.206000	0.36776	0.589000	0.31548	0.833000	0.30177	0.753000	0.26565	0.996000	0.76049	0.0:0.8567:0.0:0.1433	10.568	0.44373	566	0.70798	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1322.98	35	chr14	64125137	.	C	T	1322.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.822e+00;DP=835;ExcessHet=0.0000;FS=0.667;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=0.213;SOR=0.626	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1144	20	0	1	0
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.021	B	0.012	B	0.041	N	1.000	D	1.7	L	1.39	T	-1.084	T	0.073	T	0.364	1.006	9.108	3.35	0.508	0.640	7.200	0.143	0.00538161103081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245310548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.099	0.45039	T	0.026	0.60972	D	0.013	0.16609	B	0.009	0.14300	B	0.041119	0.23984	N	0.401918	0.999988	0.54805	D	1.655	0.42436	L	1.39	0.33842	T	-2.65	0.59710	D	0.474	0.55280	-1.0841	0.06572	T	0.073	0.29675	T	10	0.19718808	0.35641	T	0.005382	0.13801	T	0.143	0.38195	0.536	0.64585	0.319402600006	0.31557	0.3253330187294607	0.32446	0.0539322971594	0.05956	0.529864430428	0.43015	T	0.035396	0.50140	T	-0.123387	0.32572	T	-0.415013	0.31648	T	0.172842237501572	0.18771	T	0.611639	0.23235	T	0.08136348	0.18690	0.15216553	0.35812	0.08136348	0.18690	0.15216553	0.35811	-3.679	0.21014	T	.	.	0.191	0.41000	B	.;.;.;.;.	.;.;.;.;.	1.354212	0.17625	13.27	0.893201424526746	0.18696	0.58238	0.30589	D	AEFGBI	0.052091	0.09265	N	-0.429603788888434	0.24437	1.31946	-0.336983711819935	0.26915	1.489921	0.0805734006329366	0.15850	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	3.35	0.37468	0.797000	0.26660	0.426000	0.18273	0.661000	0.55757	1.000000	0.71638	0.995000	0.32472	1.000000	0.97212	0.0:0.0746:0.1466:0.7788	7.200	0.25051	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.35	4406.61	113	chr14	64158707	.	T	C	4406.61	.	AC=14;AF=0.350;AN=40;BaseQRankSum=-3.043e+00;DP=2681;ExcessHet=14.4320;FS=209.673;InbreedingCoeff=-0.5275;MLEAC=14;MLEAF=0.350;MQ=60.00;MQRankSum=0.00;QD=2.47;ReadPosRankSum=1.08;SOR=12.830	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,47:130:99:.:.:751,0,1618	6	0	14	1
chr14	64158708	64158708	G	A	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.G15876A:p.M5292I	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2288662	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.35	T	0.325	B	0.108	B	0.041	N	1.000	D	1.7	L	1.39	T	-1.072	T	0.088	T	0.327	1.982	12.59	4.86	1.535	3.990	14.318	0.077	0.00845025875398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.45039	D	0.033	0.53072	D	0.325	0.33132	B	0.108	0.31289	B	0.041119	0.23984	N	0.401918	1	0.81001	D	2.35	0.67516	M	1.39	0.33842	T	-1.61	0.43524	N	0.431	0.49965	-1.0717	0.09043	T	0.088	0.33968	T	10	0.25304455	0.42666	T	0.00845	0.22357	T	0.077	0.22490	0.515	0.61459	0.404034981753	0.40020	0.2659272823830213	0.26505	0.0746054716563	0.08373	0.455664932728	0.32718	T	0.114551	0.49765	T	-0.102013	0.36092	T	-0.384311	0.35217	T	0.684482932090759	0.39994	D	0.879912	0.59649	D	0.19624485	0.41445	0.17938405	0.40669	0.19624485	0.41444	0.17938405	0.40668	-3.183	0.12274	T	.	.	0.388	0.58884	A	.;.;.;.;.	.;.;.;.;.	2.504241	0.32334	19.01	0.96935941736678333	0.31676	0.86357	0.45621	D	AEFGBI	0.264582	0.38189	N	-0.124265557851592	0.36337	2.099065	-0.0236316895668092	0.38649	2.280163	0.900501724960891	0.26077	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	4.86	0.62624	4.416000	0.59567	4.462000	0.43463	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8511:0.1489	14.318	0.66020	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.119	1661.7	40	chr14	64158708	.	G	A,C	1661.7	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=-3.900e+00;DP=1564;ExcessHet=1.1607;FS=200.874;InbreedingCoeff=-0.1364;MLEAC=4,1;MLEAF=0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=2.84;ReadPosRankSum=1.79;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:96,0,0:96:21:.:.:0,21,2034,21,2034,2034	16	0	4	0
chr14	64158708	64158708	G	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.G15876C:p.M5292I	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.325	B	0.108	B	0.041	N	1.000	D	1.7	L	1.39	T	-1.072	T	0.088	T	0.327	1.862	12.18	4.86	1.535	3.990	14.318	0.077	0.0083565949609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.45039	D	0.033	0.53072	D	0.325	0.33132	B	0.108	0.31289	B	0.041119	0.23984	N	0.401918	1	0.81001	D	2.35	0.67516	M	1.39	0.33842	T	-1.61	0.43524	N	0.431	0.49965	-1.0717	0.09043	T	0.088	0.33968	T	10	0.2520115	0.42548	T	0.008357	0.22130	T	0.077	0.22490	0.515	0.61459	0.404034981753	0.40020	0.26592724106991794	0.26505	0.0746054716563	0.08373	0.455664932728	0.32718	T	0.114551	0.49765	T	-0.102008	0.36092	T	-0.384304	0.35219	T	0.651877224445343	0.38542	D	0.879912	0.59649	D	0.19624485	0.41445	0.17938405	0.40669	0.19624485	0.41444	0.17938405	0.40668	-3.183	0.12274	T	.	.	0.388	0.58884	A	.;.;.;.;.	.;.;.;.;.	2.298733	0.29410	18.11	0.97187594042519665	0.32749	0.88851	0.48981	D	AEFGBI	0.256398	0.37533	N	-0.124265557851592	0.36337	2.099065	-0.0236316895668092	0.38649	2.280163	0.900501724960891	0.26077	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	4.86	0.62624	4.416000	0.59567	4.462000	0.43463	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8511:0.1489	14.318	0.66020	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.119	1661.7	40	chr14	64158708	.	G	A,C	1661.7	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=-3.900e+00;DP=1564;ExcessHet=1.1607;FS=200.874;InbreedingCoeff=-0.1364;MLEAC=4,1;MLEAF=0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=2.84;ReadPosRankSum=1.79;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:96,0,0:96:21:.:.:0,21,2034,21,2034,2034	16	0	4	0
chr14	64162271	64162271	A	T	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon88:c.A16294T:p.I5432L	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.004	B	0.455	N	1.000	N	0.145	N	4.19	T	-0.977	T	0.048	T	0.213	1.541	11.11	-5.85	-0.908	0.096	5.482	0.037	0.015830036589	.	.	1.652e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs776776711	6.841e-06	6.84e-06	0	1.375e-05	0.0001	3.46e-06	2.52e-06	6.246e-05	4.757e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	0.13566	T	0.178	0.29639	T	0.001	0.07471	B	0.003	0.08700	B	0.454587	0.12465	N	0.727962	0.999948	0.19238	N	0.98	0.24916	L	0.82	0.54911	T	-0.64	0.21644	N	0.264	0.30118	-0.9771	0.35660	T	0.048	0.20513	T	10	0.040448457	0.02615	T	0.01583	0.36777	T	0.037	0.09474	0.368	0.37687	0.130388298395	0.12655	0.22553616352144962	0.22468	0.048090025717	0.05242	0.268680095673	0.05970	T	0.007566	0.23683	T	-0.331669	0.05987	T	-0.511542	0.21157	T	0.0240922885232769	0.01157	T	0.655934	0.26583	T	0.035975557	0.04338	0.03115661	0.01666	0.035975557	0.04337	0.03115661	0.01666	-3.088	0.13328	T	.	.	0.104	0.18828	B	.;.;.;.;.	.;.;.;.;.	0.934373	0.13100	9.600	0.86290826175600877	0.16438	0.15292	0.18840	N	AEFDGBI	0.046152	0.07630	N	-1.15889593486356	0.05635	0.2574032	-1.1013830788003	0.07674	0.3742106	0.797743663270645	0.24130	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.84	-5.85	0.02121	0.155000	0.16180	-0.695000	0.07821	0.756000	0.94297	0.729000	0.28913	0.000000	0.08366	0.875000	0.41745	0.2601:0.0:0.413:0.3269	5.482	0.16024	543	0.72751	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	691.98	37	chr14	64162271	.	A	T	691.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.95;DP=757;ExcessHet=0.0000;FS=6.964;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.89;ReadPosRankSum=0.201;SOR=1.552	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1148	20	0	1	0
chr14	64212974	64212974	G	A	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon105:c.G19025A:p.R6342Q	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	1	1519	2	0	0	2	0.000657895	.	.	936681	not_provided|Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant|not_specified	MedGen:C3661900|MONDO:MONDO:0013072,MedGen:C2751805,OMIM:612999,Orphanet:261|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	1.955	M	1.41	T	-0.800	T	0.197	T	0.821	5.752	36	5.64	2.655	9.488	19.714	0.622	0.082052853762	.	.	.	.	.	.	.	.	.	.	.	.	.	rs987547244	1.779e-05	1.779e-05	1.906e-05	1.65e-05	0.0004	1.238e-05	1.052e-05	6.272e-05	2.588e-05	2.988e-05	0	0	0	0	0.0004	1.439e-05	1.657e-05	6.956e-05	6.57e-06	6.567e-06	0	1.345e-05	6.542e-05	0	0	.	.	0	0	6.542e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000296	0.46274	D	0.000000	1	0.81001	D	2.56	0.74772	M	1.41	0.33412	T	-3.68	0.70314	D	0.563	0.66101	-0.8001	0.55139	T	0.197	0.55244	T	10	0.62362784	0.68118	D	0.082053	0.73817	D	0.622	0.85354	0.448	0.50793	0.641312022691	0.63835	0.3782504082492022	0.37740	0.26154194651	0.28701	0.603520512581	0.53401	T	0.306431	0.67863	T	0.102984	0.64613	D	0.00700741	0.70790	D	0.980678260326385	0.73487	D	0.984402	0.94639	D	0.47896773	0.65837	0.5276855	0.72711	0.47896773	0.65838	0.5276855	0.72712	-11.041	0.79882	D	.	.	0.224	0.45507	B	.;.;.	.;.;.	5.454649	0.91095	32	0.99948737440490609	0.99931	0.99865	0.99888	D	AEFDGBI	0.933279	0.92494	D	0.811536981684826	0.86824	9.011	0.795661068356828	0.89489	9.996439	1.0	0.98316	0.744818	0.98587	0	0.724815	0.89359	0	0.732433	0.93434	0	0.695668	0.68540	0	.	.	5.64	5.64	0.86480	9.620000	0.97794	11.816000	0.97088	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.279000	0.23992	0.0:0.0:1.0:0.0	19.714	0.96102	607	0.67291	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	588.98	36	chr14	64212974	.	G	A	588.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.175;DP=698;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.02;ReadPosRankSum=0.466;SOR=0.846	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1244	20	0	1	0
chr14	64220540	64220540	A	T	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_182910:exon4:c.A488T:p.Q163L	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	0	1510	12	0	0	12	0.00395778	.	.	265907	SYNE2-related_disorder|Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant|not_provided	.|MONDO:MONDO:0013072,MedGen:C2751805,OMIM:612999,Orphanet:261|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.313	B	0.292	B	0.819	N	1.000	D	1.95	M	0.55	T	-0.893	T	0.176	T	0.29	0.461	6.504	2.37	0.147	0.924	4.714	0.075	0.0522778576277	0.0020	0.00139776	0.0022	0.0006	0.0030	0	0.0005	0.0030	0.0022	0.0013	0.0022315	345	154602	rs149978500	0.0031	0.0031	0.0030	0.0031	0.0140	0.0030	0.0030	0.0116	0.0107	0.0005	0.0026	0.0056	0	0.0004	0.0140	0.0034	0.0035	0.0010	0.0019	0.0019	0.0021	0.0017	0.0030	0.0017	0.0017	0.0027	0.0025	0.0005	0	0.0022	0.0061	0	0.0003	0.0102	0.0030	0.0014	0.0008	0.043	0.42199	D	0.043	0.50226	D	0.313	0.32852	B	0.216	0.40739	B	0.819387	0.09190	N	0.902853	0.999983	0.54805	D	2.5	0.72771	M	0.55	0.54728	T	-5.81	0.90023	D	0.378	0.47765	-0.8931	0.48659	T	0.176	0.51990	T	10	0.00549531	0.00121	T	0.052278	0.65005	D	0.075	0.21907	.	.	0.522717468363	0.51916	0.45877102385961166	0.45795	0.137024195531	0.15452	0.300396084785	0.10460	T	0.089375	0.64994	T	-0.422152	0.01658	T	-0.380325	0.35684	T	0.0586289400915562	0.06951	T	0.768523	0.40460	T	0.19553134	0.41346	0.23880059	0.49212	0.19553134	0.41345	0.23880059	0.49211	-6.461	0.50548	T	.	.	0.117	0.32054	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.856687	0.12288	8.831	0.6130389617898947	0.06675	0.26272	0.22945	N	AEFDGBHCI	0.118171	0.23119	N	-0.571187478070026	0.19825	1.040569	-0.609017110530634	0.19261	1.032633	0.999996949742486	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	6.17	2.37	0.28337	0.720000	0.25566	1.050000	0.23629	0.756000	0.94297	0.059000	0.21734	0.019000	0.20708	0.023000	0.12082	0.6331:0.0:0.1289:0.2379	4.714	0.12267	667	0.61242	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	1373.98	33	chr14	64220540	.	A	T	1373.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.540e-01;DP=840;ExcessHet=0.0000;FS=3.173;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=-2.680e-01;SOR=1.034	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1272	20	0	1	0
chr14	64459916	64459919	TTAA	-	exonic	MTHFD1	.	frameshift deletion	MTHFD1:NM_001364837:exon27:c.2876_2879del:p.N960Lfs*8,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1149.94	39	chr14	64459915	.	CTTAA	C	1149.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.234e+00;DP=764;ExcessHet=0.0000;FS=2.300;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.49;ReadPosRankSum=0.054;SOR=0.395	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr14	64487350	64487350	C	T	exonic	ZBTB25	.	nonsynonymous SNV	ZBTB25:NM_001354683:exon3:c.G881A:p.C294Y	.	.	424	1097	1	0	0	1	0.000455581	.	.	2356791	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.042	B	0.037	B	0.008	N	1.000	D	0.55	N	1.61	T	-1.091	T	0.067	T	0.618	2.700	14.99	6.17	2.941	3.476	20.490	0.185	0.0056944585061	7.7e-05	.	0.0001	0	8.657e-05	0	0	0.0002	0	0.0001	9.7e-05	15	154602	rs374600794	6.567e-05	6.567e-05	6.262e-05	6.876e-05	0.0005	5.495e-05	5.107e-05	0.0001	7.541e-05	0	0.0002	0	0	0	0.0005	6.385e-05	8.279e-05	0.0001	0.0001	0.0001	0.0001	0.0001	0.0007	7.573e-05	6.279e-05	0.0004	0.0003	0	0	0.0007	0	0	0	0.0034	8.82e-05	0.0005	0	0.095	0.31235	T	0.167	0.30729	T	0.042	0.21471	B	0.037	0.23121	B	0.007562	0.31319	N	0.374639	0.994	0.81001	D	0.695	0.17993	N	1.61	0.28391	T	-1.25	0.31576	N	0.35	0.55886	-1.0908	0.05400	T	0.067	0.27468	T	10	0.078775644	0.12596	T	0.005694	0.14742	T	0.185	0.45933	.	.	0.357724736475	0.35387	0.40884105370116797	0.40800	0.269474927048	0.29467	0.486367613077	0.36935	T	0.149096	0.48795	T	-0.244178	0.14820	T	-0.333476	0.41082	T	0.0393709194902363	0.03577	T	0.733627	0.34942	T	0.11307704	0.26709	0.13780625	0.32929	0.11307704	0.26709	0.13780625	0.32928	-3.595	0.17785	T	.	.	0.073	0.04517	B	.;.	.;.	2.910845	0.38609	20.8	0.96735409789671212	0.30902	0.93131	0.57407	D	AEFGBI	.	.	.	-0.121541141850825	0.36456	2.107444	0.0560985653186133	0.42367	2.561358	0.999999999958445	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	3.587000	0.53705	5.999000	0.52457	0.599000	0.40250	0.346000	0.25726	1.000000	0.68203	0.941000	0.48210	0.0:1.0:0.0:0.0	20.490	0.99205	372	0.84213	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1902.98	34	chr14	64487350	.	C	T	1902.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.722e+00;DP=861;ExcessHet=0.0000;FS=1.277;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=0.681;SOR=0.575	GT:AD:DP:GQ:PL	0/1:77,76:153:99:1917,0,1997	20	0	1	0
chr14	64587239	64587239	C	T	exonic	PPP1R36	.	nonsynonymous SNV	PPP1R36:NM_172365:exon10:c.C757T:p.R253C,	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.905	M	0.26	T	-0.040	T	0.439	T	0.934	4.301	22.5	5.55	2.596	4.000	15.028	0.695	0.0539248401392	7.7e-05	.	4.952e-05	0	0	0	0	1.501e-05	0	0.0003	3.88e-05	6	154602	rs140512732	2.943e-05	2.941e-05	2.043e-05	3.852e-05	0.0003	2.218e-05	1.971e-05	0.0002	0.0002	0	0	0	0	0	0	1.44e-05	1.657e-05	0.0003	2.631e-05	2.627e-05	2.571e-05	2.693e-05	0.0002	8.15e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0.0002	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000007	0.62929	D	0.000000	0.99997	0.53665	D	2.615	0.76484	M	0.26	0.59314	T	-7.21	0.94249	D	0.799	0.79503	-0.0404	0.81409	T	0.439	0.77765	T	10	0.89333653	0.88682	D	0.053925	0.65659	D	0.695	0.88960	.	.	0.83764334984	0.83609	0.726232055205984	0.72567	0.709958406355	0.61660	0.609612286091	0.54261	T	0.209185	0.56932	T	0.0992454	0.64211	D	0.200975	0.83181	D	0.957026839256287	0.64905	D	0.884012	0.60664	D	0.75785553	0.81327	0.7433903	0.84832	0.75785553	0.81328	0.7433903	0.84833	-4.719	0.33634	T	.	.	0.275	0.50880	B	.	.	5.760602	0.93427	33	0.99937634450801893	0.99661	0.84212	0.43295	D	AEFGBI	0.712016	0.66527	D	0.830034473052495	0.87943	9.396693	0.779429954512747	0.88330	9.541344	0.99874431342463	0.37581	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.55	5.55	0.83298	3.890000	0.55932	7.660000	0.64180	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	15.028	0.71349	436	0.80373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	917.98	34	chr14	64587239	.	C	T	917.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=-4.060e-01;SOR=0.592	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr14	64589163	64589163	T	C	exonic	PPP1R36	.	nonsynonymous SNV	PPP1R36:NM_172365:exon12:c.T1094C:p.L365S,	.	.	.	.	.	.	.	.	.	.	.	2201535	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.984	D	0.036	N	0.643	D	2.25	M	0.52	T	-0.176	T	0.309	T	0.852	3.358	17.31	4.62	2.054	3.304	10.598	0.339	0.0230295761422	.	0.000199681	8.289e-06	9.619e-05	0	0	0	0	0	0	1.29e-05	2	154602	rs200070762	8.224e-06	8.209e-06	8.182e-06	8.265e-06	0.0002	4.39e-06	3.46e-06	0.0001	8.711e-05	0.0002	0	0	0	0	0.0002	0	4.975e-05	0	1.313e-05	1.312e-05	1.285e-05	1.343e-05	2.406e-05	2.18e-06	8.2e-07	.	.	2.406e-05	0	0	0	0	0	0	0	0.0005	0	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.984	0.76113	D	0.035983	0.24577	N	0.256618	0.643177	0.32895	D	2.555	0.74557	M	0.52	0.55266	T	-4.04	0.74427	D	0.72	0.72209	-0.1761	0.78278	T	0.309	0.67967	T	10	0.80769116	0.80089	D	0.02303	0.45967	T	0.339	0.66106	.	.	0.790669808946	0.78873	0.896592186761227	0.89630	0.723985850288	0.62362	0.500594973564	0.38911	T	0.086956	0.37838	T	0.0795077	0.61982	D	0.0585777	0.74150	D	0.913863718509674	0.57029	D	0.650635	0.26150	T	0.41457233	0.61729	0.42585787	0.66382	0.41457233	0.61729	0.42585787	0.66382	-3.674	0.18935	T	.	.	0.911	0.83549	P	.	.	4.597455	0.72782	25.9	0.99828306677313317	0.91026	0.78781	0.38921	D	AEFGBI	0.259454	0.37779	N	0.586430195154187	0.72326	5.788322	0.519306060458552	0.69289	5.339332	0.901348203458025	0.26099	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.421255	0.06892	1	.	.	4.62	4.62	0.56946	3.513000	0.53172	7.760000	0.68282	0.645000	0.52629	0.982000	0.35529	1.000000	0.68203	0.921000	0.45669	0.0:0.0:0.0:1.0	10.598	0.44537	433	0.80627	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1114.98	33	chr14	64589163	.	T	C	1114.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.38;DP=788;ExcessHet=0.0000;FS=4.380;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=0.226;SOR=1.280	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1206	20	0	1	0
chr14	64738747	64738747	G	C	exonic	PLEKHG3	.	nonsynonymous SNV	PLEKHG3:NM_001308147:exon15:c.G1410C:p.K470N,	.	.	415	1101	6	0	0	6	0.00271739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.999	D	0.964	D	0.377	N	1.000	D	2.19	M	1.24	T	-0.903	T	0.109	T	0.167	3.287	17.04	0.882	0.630	2.204	4.446	0.156	.	0.0055	0.00519169	0.0177	0.0023	0.0648	0.0027	0.0589	0.0184	0.0041	0.0156	0.0066429	1027	154602	rs72724477	0.0080	0.0081	0.0078	0.0082	0.0159	0.0079	0.0078	0.0148	0.0144	0.0012	0.0159	0.0040	0.0008	0.0119	0.0023	0.0078	0.0070	0.0130	0.0064	0.0064	0.0061	0.0066	0.0124	0.0060	0.0059	0.0099	0.0090	0.0018	0.0055	0.0105	0.0049	0.0010	0.0102	0	0.0079	0.0038	0.0124	0.0	0.91255	D	0.426	0.92824	T	0.999	0.77913	D	0.929	0.71005	D	0.377271	0.13440	N	0.699647	0.996422	0.81001	D	2.665	0.77964	M	1.24	0.36691	T	-2.84	0.59873	D	0.39	0.56403	-0.9027	0.47705	T	0.109	0.39509	T	10	0.0069660246	0.00158	T	.	.	.	0.156	0.40720	0.247	0.18293	0.491729458163	0.48807	0.2769457900198724	0.27607	0.65192617917	0.58404	0.628261268139	0.56898	T	0.030109	0.21421	T	-0.450265	0.01125	T	-0.405925	0.32697	T	0.026208640920483	0.01435	T	0.749925	0.37732	T	0.12395166	0.29094	0.1000488	0.23908	0.12395166	0.29094	0.1000488	0.23908	-5.124	0.39576	T	.	.	0.282	0.64658	B	.;.;.;.	.;.;.;.	3.435602	0.47770	22.5	0.99826171060265678	0.90852	0.66194	0.32994	D	AEFDBCI	0.136211	0.25681	N	0.286979450758873	0.55488	3.712822	0.217238421954152	0.50803	3.268629	0.749180870419722	0.23332	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.3	0.882	0.18306	2.368000	0.43875	2.153000	0.30925	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.3466:0.0:0.4994:0.154	4.446	0.11019	404	0.82510	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	714.98	34	chr14	64738747	.	G	C	714.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.040e+00;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.77;ReadPosRankSum=-4.980e-01;SOR=0.764	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1409	20	0	1	0
chr14	64738782	64738782	G	C	exonic	PLEKHG3	.	nonsynonymous SNV	PLEKHG3:NM_001308147:exon15:c.G1445C:p.R482T,	.	.	418	1097	7	0	0	7	0.00318037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.718	P	0.288	B	0.013	N	1.000	D	1.95	M	1.46	T	-1.085	T	0.059	T	0.27	2.621	14.73	2.05	0.628	2.800	5.310	0.044	0.0106807432548	0.0002	0.000998403	0.0022	0	0.0024	0	0	0.0006	0	0.0078	0.0008279	128	154602	rs146233369	0.0006	0.0006	0.0004	0.0008	0.0061	0.0005	0.0005	0.0057	0.0055	6.032e-05	0.0004	0	2.555e-05	0	0.0038	0.0002	0.0007	0.0061	0.0004	0.0004	0.0003	0.0006	0.0050	0.0004	0.0003	0.0034	0.0029	7.215e-05	0	0.0005	0.0003	0	0	0.0136	0.0004	0.0005	0.0050	0.002	0.72154	D	0.589	0.18125	T	0.589	0.42284	P	0.288	0.40614	B	0.013202	0.28915	N	0.333498	1	0.81001	D	2.48	0.72069	M	0.96	0.42888	T	-3.27	0.66085	D	0.365	0.49237	-1.0851	0.06389	T	0.059	0.24612	T	10	0.0068308115	0.00155	T	0.010681	0.27493	T	0.044	0.11924	.	.	0.427139414373	0.42328	0.28526189739571284	0.28439	0.296477022093	0.32036	0.325851082802	0.14306	T	0.030	0.21560	T	-0.454253	0.01066	T	-0.423637	0.30660	T	0.019327726132529	0.00638	T	0.579042	0.21881	T	0.11241964	0.26559	0.07752393	0.17277	0.11241964	0.26559	0.07752393	0.17277	-5.827	0.44809	T	.	.	0.117	0.40634	B	.;.;.;.	.;.;.;.	2.725465	0.35659	19.96	0.9671754665093576	0.30836	0.74454	0.36423	D	AEFDBCI	0.244885	0.36591	N	-0.0589792636731258	0.39202	2.308036	-0.0112146460580841	0.39208	2.321204	0.976547586801716	0.29735	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.3	2.05	0.25860	2.193000	0.42291	4.462000	0.43463	0.676000	0.76740	0.968000	0.34134	1.000000	0.68203	0.879000	0.42020	0.5013:0.0:0.4987:0.0	5.310	0.15133	404	0.82510	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3354.11	34	chr14	64738782	.	G	C	3354.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.410e-01;DP=944;ExcessHet=0.1072;FS=1.433;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=0.409;SOR=0.788	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1409	19	0	2	0
chr14	64743168	64743168	C	T	exonic	PLEKHG3	.	nonsynonymous SNV	PLEKHG3:NM_001308147:exon17:c.C3125T:p.T1042I,	.	.	414	1107	1	0	0	1	0.000451467	.	.	2288015	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.992	D	0.813	P	0.046	N	1.000	N	1.78	L	1.4	T	-0.756	T	0.294	T	0.259	3.340	17.24	3.74	1.390	1.511	10.217	0.075	0.048282022238	.	.	.	.	.	.	.	.	.	.	.	.	.	rs954413659	4.113e-06	4.104e-06	2.729e-06	5.512e-06	0.0005	1.48e-06	9.7e-07	0.0001	7.544e-05	0	0	0	0	0	0.0005	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.16628	T	0.047	0.49120	D	0.967	0.64738	D	0.718	0.58748	P	0.045686	0.23511	N	0.409737	1	0.08975	N	2.28	0.64929	M	1.4	0.33842	T	-2.8	0.59226	D	0.362	0.40364	-0.7563	0.57604	T	0.294	0.66583	T	10	0.15328339	0.28937	T	0.048282	0.63305	D	0.075	0.21907	0.117	0.02508	0.730047997859	0.72764	0.2359513208253598	0.23510	0.538764309672	0.51126	0.491542577744	0.37652	T	0.13542	0.46722	T	-0.126714	0.32031	T	-0.356147	0.38498	T	0.845130980014801	0.49751	D	0.609039	0.23055	T	0.10370964	0.24515	0.12074798	0.29137	0.10370964	0.24514	0.12074798	0.29136	-6.581	0.54034	T	.	.	0.289	0.53982	B	.;.;.;.	.;.;.;.	2.249592	0.28733	17.89	0.99764162440804527	0.85335	0.10560	0.16033	N	AEFDGBI	0.110363	0.21888	N	-0.0359489720229203	0.40234	2.385793	-0.165236753994032	0.32826	1.871436	0.999618129438821	0.40981	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	5.66	3.74	0.42108	0.934000	0.28510	1.767000	0.28601	0.599000	0.40250	0.001000	0.13787	0.006000	0.19429	0.689000	0.33808	0.0:0.7874:0.1367:0.0759	10.217	0.42350	406	0.82375	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3066.98	35	chr14	64743168	.	C	T	3066.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.290e-01;DP=1072;ExcessHet=0.0000;FS=2.442;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.75;ReadPosRankSum=1.01;SOR=0.557	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1296	20	0	1	0
chr14	64743252	64743252	G	A	exonic	PLEKHG3	.	nonsynonymous SNV	PLEKHG3:NM_001308147:exon17:c.G3209A:p.R1070Q,	.	.	394	1116	12	0	0	12	0.00534759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.997	D	0.756	P	0.798	N	1.000	N	0.55	N	1.53	T	-0.985	T	0.147	T	0.089	0.318	5.724	2.17	1.264	0.657	5.384	0.034	.	0.0005	0.00219649	0.0018	0.0004	0.0004	0.0001	0.0002	0.0009	0.0037	0.0086	0.001533	237	154602	rs201046500	0.0018	0.0018	0.0015	0.0021	0.0082	0.0017	0.0017	0.0077	0.0075	0.0002	0.0004	3.854e-05	5.043e-05	0.0001	0.0026	0.0016	0.0016	0.0082	0.0010	0.0010	0.0009	0.0012	0.0081	0.0009	0.0008	0.0061	0.0054	0.0003	0	0.0005	0	0	0	0	0.0013	0.0014	0.0081	0.008	0.58626	D	0.563	0.12316	T	0.04	0.70673	B	0.008	0.56253	B	0.798077	0.09345	N	0.896444	1	0.08975	N	1.78	0.46185	L	0.11	0.61208	T	-1.0	0.26422	N	0.12	0.11054	-0.9850	0.33832	T	0.147	0.47183	T	10	0.004076898	0.00080	T	.	.	.	0.034	0.08419	.	.	0.420570264827	0.41677	0.25530919511525985	0.25444	0.17288253818	0.19474	0.293484032154	0.09433	T	0.004732	0.08979	T	-0.547944	0.00300	T	-0.55431	0.16914	T	0.0100963139427839	0.00136	T	0.688631	0.29780	T	0.027935397	0.02056	0.028472759	0.01086	0.027935397	0.02056	0.028472759	0.01086	-4.512	0.31058	T	.	.	0.085	0.10208	B	.;.;.;.	.;.;.;.	1.976171	0.25106	16.64	0.95849086367667713	0.27987	0.06869	0.12894	N	AEFDGBI	0.041765	0.06392	N	-0.65747194087239	0.17243	0.8856254	-0.646637295501987	0.18302	0.9770704	0.851154178650406	0.25047	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.528226	0.09195	0	.	.	5.39	2.17	0.26736	0.319000	0.19270	4.308000	0.42960	-0.135000	0.12811	0.002000	0.15269	1.000000	0.68203	0.005000	0.06747	0.2558:0.1594:0.5848:0.0	5.384	0.15508	406	0.82375	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1234.98	35	chr14	64743252	.	G	A	1234.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.831;DP=976;ExcessHet=0.0000;FS=9.996;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=1.15;SOR=1.306	GT:AD:DP:GQ:PL	0/0:65,0:65:99:0,120,1800	20	0	1	0
chr14	64774520	64774520	T	G	exonic	SPTB	.	nonsynonymous SNV	SPTB:NM_001024858:exon23:c.A4850C:p.E1617A	Anemia, neonatal hemolytic, fatal and near-fatal (3);Elliptocytosis-3 (3);Spherocytosis, type 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.117	B	0.062	B	0.000	D	1.000	D	1.15	L	0.67	T	-1.041	T	0.099	T	0.436	1.356	10.46	5.25	1.966	6.259	14.139	0.142	0.0317399119179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.552	0.06543	T	0.688	0.18395	T	0.002	0.09854	B	0.017	0.18140	B	0.000002	0.62929	D	0.059028	0.999975	0.53665	D	1.455	0.36767	L	0.67	0.52187	T	-1.65	0.39503	N	0.32	0.36779	-1.0406	0.17132	T	0.099	0.37009	T	10	0.2341393	0.40448	T	0.03174	0.53746	D	0.142	0.37995	0.561	0.68093	0.351146185902	0.34720	0.1616448569744492	0.16085	0.244366285691	0.26938	0.438334673643	0.30350	T	0.016702	0.68631	T	-0.0648027	0.42154	T	-0.330861	0.41374	T	0.612109243869781	0.36885	D	0.879712	0.59601	D	0.42792568	0.62617	0.13447845	0.32223	0.42792568	0.62617	0.13447845	0.32222	-3.144	0.11808	T	0.2322639409226988	0.31436	0.133	0.29172	B	.;.;.;.;.;.	.;.;.;.;.;.	4.235640	0.64182	24.7	0.84306153370385706	0.15215	0.93879	0.59455	D	AEFDGBHCI	0.836509	0.75426	D	-0.110439432015819	0.36937	2.141957	0.0736780484544563	0.43230	2.629081	0.999999999986068	0.74766	0.656854	0.48797	0	0.547309	0.14657	0	0.67347	0.61138	0	0.542086	0.14980	0	.	.	5.25	5.25	0.73169	6.255000	0.72423	7.909000	0.73932	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.827000	0.38976	0.0:0.0:0.0:1.0	14.139	0.64841	453	0.79178	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	375.98	40	chr14	64774520	.	T	G	375.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.146;DP=780;ExcessHet=0.0000;FS=1.400;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=-1.780e-01;SOR=0.645	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,102,1169	20	0	1	0
chr14	64786960	64786960	C	T	exonic	SPTB	.	nonsynonymous SNV	SPTB:NM_001024858:exon15:c.G3005A:p.R1002H	Anemia, neonatal hemolytic, fatal and near-fatal (3);Elliptocytosis-3 (3);Spherocytosis, type 2, Autosomal dominant	.	0	1519	3	0	0	3	0.000986518	.	.	2359472	Hereditary_spherocytosis_type_2|Inborn_genetic_diseases	MONDO:MONDO:0000913,MedGen:C2674219,OMIM:616649,Orphanet:822|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.694	P	0.347	B	0.000	N	1.000	D	2.755	M	0.71	T	-0.660	T	0.191	T	0.505	3.694	18.77	4.0	1.203	6.081	12.443	0.255	0.063785773078	.	.	8.244e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs780815297	1.916e-05	1.984e-05	1.225e-05	2.613e-05	0.0003	1.328e-05	1.144e-05	6.092e-05	2.521e-05	0	0	3.826e-05	0	0	0.0003	1.259e-05	8.279e-05	6.956e-05	2.628e-05	3.283e-05	3.853e-05	1.345e-05	0.0001	8.14e-06	5.14e-06	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0.0010	0	0.008	0.59928	D	0.021	0.58089	D	0.466	0.36465	P	0.347	0.42698	B	0.000001	0.62929	N	0.055862	0.999958	0.52396	D	2.51	0.73131	M	0.71	0.51228	T	-3.84	0.74193	D	0.492	0.52563	-0.6599	0.62280	T	0.191	0.54301	T	10	0.52769387	0.63004	D	0.063786	0.69075	D	0.255	0.56562	0.441	0.49648	0.63568515825	0.63269	0.5151196180972656	0.51434	0.346443160718	0.36549	0.529669880867	0.42988	T	0.631572	0.88588	D	-0.14952	0.28387	T	-0.271024	0.47716	T	0.825243532657623	0.48165	D	0.939106	0.77081	D	0.3277793	0.55289	0.24986507	0.50567	0.3277793	0.55289	0.24986507	0.50566	-6.334	0.48991	T	0.7692014804704723	0.85034	0.191	0.41047	B	.;.;.;.;.	.;.;.;.;.	4.258599	0.64698	24.7	0.99883087972797924	0.95892	0.98802	0.87042	D	AEFDGBI	0.819815	0.74075	D	0.33431430606589	0.57917	3.961171	0.337305038824625	0.57746	3.94157	0.999999772358059	0.74766	0.615755	0.39536	0	0.59043	0.45803	0	0.602189	0.34648	0	0.526803	0.08958	0	.	.	4.89	4.0	0.45673	6.163000	0.71702	4.928000	0.46104	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.386000	0.26469	0.0:0.9161:0.0:0.0839	12.443	0.54975	464	0.78488	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2842.98	36	chr14	64786960	.	C	T	2842.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.49;DP=942;ExcessHet=0.0000;FS=7.797;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.80;ReadPosRankSum=0.878;SOR=0.671	GT:AD:DP:GQ:PL	0/1:98,108:206:99:2857,0,2322	20	0	1	0
chr14	64793547	64793547	G	A	exonic	SPTB	.	nonsynonymous SNV	SPTB:NM_001024858:exon13:c.C2116T:p.R706C	Anemia, neonatal hemolytic, fatal and near-fatal (3);Elliptocytosis-3 (3);Spherocytosis, type 2, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	336572	not_provided|Spherocytosis,_Dominant|Elliptocytosis|Inborn_genetic_diseases	MedGen:C3661900|MedGen:CN239455|Human_Phenotype_Ontology:HP:0004445,Human_Phenotype_Ontology:HP:0004837,MedGen:C0427480|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.921	P	0.773	P	0.112	N	1.000	N	1.385	L	0.69	T	-0.933	T	0.137	T	0.444	2.138	13.10	4.69	2.320	2.176	12.649	0.196	0.0251433106747	0.0002	0.000399361	4.956e-05	0.0002	0.0002	0	0	3.006e-05	0	0	5.17e-05	8	154602	rs184962510	7.046e-05	7.046e-05	7.215e-05	6.875e-05	0.0004	5.913e-05	5.522e-05	0.0003	0.0002	0.0004	0.0003	0	2.519e-05	0	0.0003	5.306e-05	0.0001	5.797e-05	0.0001	0.0001	0.0002	0.0001	0.0004	9.146e-05	7.702e-05	0.0002	0.0001	0.0003	0	0.0004	0	0	0	0.0034	2.94e-05	0	0	0.003	0.68238	D	0.01	0.65728	D	0.921	0.51088	P	0.717	0.54739	P	0.111829	0.19383	N	0.550007	1	0.08975	N	1.625	0.41611	L	0.69	0.51714	T	-3.48	0.67941	D	0.374	0.41557	-0.9327	0.43740	T	0.137	0.45356	T	10	0.061317533	0.07668	T	0.025143	0.48119	D	0.196	0.47777	.	.	0.449242652821	0.44546	0.21736137450127166	0.21652	0.716288316527	0.61984	0.26318320632	0.05275	T	0.491056	0.81559	T	-0.297867	0.08862	T	-0.349486	0.39265	T	0.118402235913381	0.14273	T	0.865513	0.56452	D	0.19669063	0.41507	0.1626917	0.37779	0.19669063	0.41507	0.1626917	0.37778	-4.945	0.36775	T	0.3678586665343047	0.46368	0.099	0.19760	B	.;.;.;.;.	.;.;.;.;.	4.384594	0.67615	25.1	0.99900586090006838	0.97275	0.20108	0.20918	N	AEFGBI	0.535585	0.55415	D	0.107569261923633	0.46816	2.916225	0.0195697727500743	0.40625	2.427421	0.99794366224162	0.36224	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.69	4.69	0.58546	2.825000	0.47797	8.713000	0.78141	0.676000	0.76740	0.065000	0.21925	1.000000	0.68203	0.324000	0.25064	0.0:0.167:0.833:0.0	12.649	0.56113	467	0.78285	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2185.98	38	chr14	64793547	.	G	A	2185.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.80;DP=1012;ExcessHet=0.0000;FS=0.494;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.26;ReadPosRankSum=0.668;SOR=0.758	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr14	65084272	65084272	T	C	exonic	MAX	.	nonsynonymous SNV	MAX:NM_001271068:exon3:c.A172G:p.T58A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.0	B	0.0	B	.	.	0.950	N	.	.	-3.84	D	-0.270	T	0.661	D	0.016	1.487	10.92	1.78	0.483	0.040	5.551	0.211	0.0218959650397	.	.	0.0001	0	0.0002	0	0	2.999e-05	0.0022	0.0004	8.41e-05	13	154602	rs141542259	4.939e-05	4.925e-05	2.731e-05	7.168e-05	0.0007	4.004e-05	3.68e-05	0.0006	0.0005	0	0	0	0	0	0	7.219e-06	3.318e-05	0.0007	1.977e-05	1.972e-05	0	4.049e-05	0.0004	5.26e-06	2.46e-06	7.296e-05	3.031e-05	0	0	0	0	0	0	0	1.472e-05	0	0.0004	0.266	0.16251	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.950257	0.37687	D	.	.	.	-3.84	0.95826	D	0.81	0.01839	N	0.029	0.00666	-0.2704	0.75801	T	0.661	0.88212	D	8	0.034693718	0.01687	T	0.021896	0.44729	T	0.211	0.50185	0.503	0.59615	0.390292564088	0.38643	.	.	.	.	.	.	.	.	.	.	-0.364463	0.03884	T	-0.378085	0.35945	T	0.0149758049805285	0.00320	T	0.204979	0.02394	T	.	.	.	.	.	.	.	.	-3.673	0.18920	T	.	.	0.065	0.01960	B	.	.	0.338837	0.07123	3.703	0.81584564596339337	0.13758	0.00086	0.00577	N	AEFBI	0.016817	0.00402	N	-0.97472057563725	0.09146	0.4316578	-0.993028853536206	0.09941	0.4976008	0.999617574738714	0.40981	0.722319	0.85440	0	0.698795	0.70079	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	3.63	1.78	0.23918	0.043000	0.13855	0.084000	0.14428	-0.201000	0.08892	0.003000	0.16062	0.031000	0.21272	0.011000	0.09372	0.0:0.737:0.0:0.263	5.551	0.16380	375	0.84013	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1116.98	38	chr14	65084272	.	T	C	1116.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.491;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=-1.278e+00;SOR=0.665	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr14	65615996	65615996	T	G	exonic	FUT8	.	nonsynonymous SNV	FUT8:NM_178156:exon3:c.T222G:p.I74M	.	.	422	1097	3	0	0	3	0.0013655	.	.	904593	Congenital_disorder_of_glycosylation_with_defective_fucosylation_1|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0020775,MedGen:CN258220,OMIM:618005|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.24	T	0.0	B	0.001	B	0.007	N	1.000	D	0	N	1.95	T	-1.054	T	0.025	T	0.209	1.601	11.31	3.54	1.100	2.478	8.640	0.046	0.00639101840458	.	0.000199681	8.584e-05	0	0	0	0	0.0001	0	0.0002	9.06e-05	14	154602	rs368415291	0.0001	0.0001	0.0001	0.0001	0.0047	0.0001	0.0001	0.0033	0.0028	5.984e-05	0.0002	3.831e-05	0	0	0.0047	0.0001	0.0003	8.125e-05	5.908e-05	5.905e-05	6.424e-05	5.369e-05	0.0004	3.074e-05	2.208e-05	7.296e-05	3.031e-05	0	0	6.532e-05	0	0	0	0	8.821e-05	0	0.0004	0.181	0.21884	T	0.142	0.33330	T	0.0	0.02946	B	0.001	0.04355	B	0.006625	0.31903	N	0.383826	0.977806	0.81001	D	0.41	0.12415	N	1.95	0.22474	T	-0.32	0.12283	N	0.299	0.33796	-1.0543	0.13225	T	0.025	0.10509	T	10	0.06055504	0.07457	T	0.006391	0.16812	T	0.046	0.12618	.	.	0.251679625132	0.24793	0.20247834277608576	0.20164	0.604138712811	0.55366	0.3335519135	0.15470	T	0.185927	0.53906	T	-0.423222	0.01632	T	-0.576406	0.14867	T	0.0113774184137583	0.00169	T	0.79652	0.44001	T	0.03290703	0.03406	0.04918513	0.07464	0.03290703	0.03406	0.04918513	0.07463	-4.585	0.31982	T	0.30532263324297004	0.40293	0.065	0.01986	B	.;.	.;.	2.110556	0.26858	17.26	0.87574848574903463	0.17326	0.86747	0.46094	D	AEFGBIJ	0.211899	0.33764	N	-0.353674268639164	0.27136	1.486	-0.132646955503829	0.34084	1.956603	0.0289599853303266	0.13860	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	6.03	3.54	0.39650	2.504000	0.45076	0.993000	0.23206	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0768:0.1388:0.7843	8.640	0.33134	725	0.54935	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1511.98	33	chr14	65615996	.	T	G	1511.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.493e+00;DP=855;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=0.440;SOR=0.638	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1203	20	0	1	0
chr14	66681128	66681128	A	G	exonic	GPHN	.	nonsynonymous SNV	GPHN:NM_001024218:exon2:c.A86G:p.N29S	Molybdenum cofactor deficiency C	.	21	1498	2	1	0	4	0.00133333	.	.	528323	Sulfite_oxidase_deficiency_due_to_molybdenum_cofactor_deficiency_type_C|Inborn_genetic_diseases	MONDO:MONDO:0014212,MedGen:C1854990,OMIM:615501,Orphanet:308400,Orphanet:833|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.27	T	0.943	P	0.902	P	0.000	D	1.000	D	0.07	N	-1.02	T	-0.367	T	0.367	T	0.139	2.827	15.42	5.11	1.922	8.195	12.835	0.353	0.0526138235332	7.7e-05	.	9.139e-05	0	0.0003	0	0	0.0001	0	6.078e-05	7.12e-05	11	154602	rs144247888	6.097e-05	6.362e-05	6.077e-05	6.116e-05	0.0006	5.024e-05	4.685e-05	0.0002	8.479e-05	3.045e-05	8.952e-05	0	2.533e-05	0	0.0006	6.109e-05	0.0002	3.496e-05	6.574e-05	6.568e-05	7.711e-05	5.383e-05	0.0001	3.518e-05	2.617e-05	6.807e-05	5.089e-05	2.414e-05	0	0	0	0	0	0	0.0001	0	0	0.184	0.43085	T	0.465	0.36365	T	0.248	0.53072	B	0.438	0.64047	B	0.000000	0.84330	D	0.000000	0.999273	0.81001	D	0.4	0.12274	N	-1.02	0.76300	T	-1.35	0.39119	N	0.793	0.80180	-0.3669	0.73056	T	0.367	0.72712	T	10	0.61218137	0.67506	D	0.052614	0.65141	D	0.353	0.67418	.	.	0.72538121087	0.72295	0.49290651260588103	0.49211	1.38065135197	0.84769	0.775062918663	0.78184	T	0.490282	0.81514	T	-0.206582	0.19863	T	-0.308815	0.43785	T	0.316590964794159	0.25683	T	0.932107	0.76420	D	0.32512578	0.55069	0.23285916	0.48458	0.32512578	0.55069	0.23285916	0.48457	-7.077	0.54595	T	0.15152657662892952	0.17883	0.166	0.54146	B	.;.;.;.	.;.;.;.	4.774765	0.77330	26.7	0.99138770012916644	0.53464	0.96558	0.69741	D	AEFBI	0.894378	0.83329	D	0.237224559343401	0.53010	3.472004	0.365614382876398	0.59453	4.123351	0.95762640559479	0.28315	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.11	5.11	0.69188	8.587000	0.90596	11.061000	0.85440	0.677000	0.82338	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	12.835	0.57152	510	0.75209	MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain;.;MoaB/Mog domain|MoaB/Mog domain;MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	357.98	33	chr14	66681128	.	A	G	357.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.351;DP=700;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=0.00;SOR=0.569	GT:AD:DP:GQ:PL	0/1:13,18:31:99:372,0,246	20	0	1	0
chr14	67575824	67575824	G	A	exonic	PLEKHH1	.	nonsynonymous SNV	PLEKHH1:NM_020715:exon16:c.G2171A:p.R724Q,	.	.	424	1097	1	0	0	1	0.000455581	0.9655	0.642	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.927	P	0.309	B	0.006	N	1.000	D	0	N	2.01	T	-1.057	T	0.025	T	0.392	3.748	19.03	3.98	2.687	4.600	12.288	0.095	.	.	0.00339457	0.0009	0	0	0	0	6.494e-05	0	0.0069	0.0007697	119	154602	rs532622152	0.0004	0.0004	0.0002	0.0006	0.0061	0.0004	0.0004	0.0056	0.0055	0	2.242e-05	0.0006	0	1.874e-05	0.0002	2.43e-05	0.0005	0.0061	0.0003	0.0003	8.994e-05	0.0004	0.0070	0.0002	0.0002	0.0052	0.0045	2.406e-05	0	0	0.0003	0	0	0	2.94e-05	0.0005	0.0070	0.291	0.14945	T	0.292	0.20877	T	0.927	0.51527	P	0.309	0.41361	B	0.005699	0.32589	N	0.297007	0.63194	0.30691	N	0	0.06538	N	2.01	0.21291	T	-0.31	0.12099	N	0.345	0.38643	-1.0568	0.12569	T	0.025	0.10688	T	10	0.008401394	0.00191	T	.	.	.	0.095	0.27398	.	.	0.288727942641	0.28479	0.27019708801561126	0.26932	0.325923819181	0.34745	0.309935241938	0.11898	T	0.00358	0.02990	T	-0.454083	0.01068	T	-0.422839	0.30751	T	0.0589658636341299	0.07004	T	0.941006	0.77964	D	0.07077632	0.15617	0.042524096	0.05083	0.07077632	0.15617	0.042524096	0.05082	-4.736	0.33836	T	.	.	0.089	0.12132	B	.	.	3.884081	0.56469	23.7	0.99911289754957056	0.98095	0.91667	0.54008	D	ALL	0.841940	0.75909	D	0.192805580616519	0.50852	3.271494	0.302032464577488	0.55660	3.728762	0.99982412738937	0.43622	0.719381	0.83141	0	0.588066	0.40923	0	0.723133	0.82415	0	0.63947	0.58350	0	.	.	4.87	3.98	0.45383	4.631000	0.61002	3.844000	0.40055	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0828:0.0:0.9172:0.0	12.288	0.54122	274	0.89249	Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	976.98	40	chr14	67575824	.	G	A	976.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=909;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=-1.082e+00;SOR=0.616	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr14	67582079	67582079	C	T	exonic	PLEKHH1	.	nonsynonymous SNV	PLEKHH1:NM_020715:exon24:c.C3295T:p.R1099C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.999	D	0.872	P	0.000	D	1.000	D	2.125	M	0.77	T	-0.636	T	0.238	T	0.803	3.730	18.94	4.87	2.514	1.380	11.638	0.290	0.0412310306063	.	.	.	.	.	.	.	.	.	.	.	.	.	rs756012004	3.429e-06	4.104e-06	2.728e-06	4.138e-06	1.169e-05	1.01e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.603e-06	0	1.169e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	0.999	0.77913	D	0.872	0.61918	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.57	0.75187	M	0.77	0.49642	T	-4.73	0.80085	D	0.723	0.72477	-0.6358	0.63324	T	0.238	0.60583	T	10	0.8013387	0.79531	D	0.041231	0.59811	D	0.290	0.60924	0.561	0.68093	0.554077600107	0.55066	0.6088620104614142	0.60818	0.852769158703	0.68625	0.598196148872	0.52649	T	0.144	0.48040	T	0.108852	0.65232	D	-0.0814181	0.64800	T	0.988797843456268	0.79084	D	0.938306	0.76795	D	0.47935352	0.65861	0.24269311	0.49696	0.47935352	0.65861	0.24269311	0.49695	-6.856	0.52974	T	.	.	0.105	0.19276	B	.	.	5.469102	0.91250	32	0.99934209626419512	0.99535	0.78988	0.39058	D	AEFGBI	0.100647	0.20233	N	0.542567832098223	0.69632	5.384437	0.511956970120717	0.68792	5.269414	0.876101619708026	0.25519	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.616125	0.45549	0	.	.	4.87	4.87	0.62877	1.155000	0.31311	4.061000	0.41587	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.930000	0.46718	0.0:0.9187:0.0:0.0813	11.638	0.50477	274	0.89249	FERM domain|Band 4.1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1053.98	39	chr14	67582079	.	C	T	1053.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.140e-01;DP=779;ExcessHet=0.0000;FS=11.091;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.28;ReadPosRankSum=-5.600e-01;SOR=0.136	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1575	20	0	1	0
chr14	67767816	67767816	C	A	exonic	ZFYVE26	.	nonsynonymous SNV	ZFYVE26:NM_015346:exon31:c.G5678T:p.S1893I,	Spastic paraplegia 15, autosomal recessive, Autosomal recessive	.	2	1505	15	0	0	15	0.00495868	.	.	186193	not_provided|not_specified|Spastic_paraplegia|Hereditary_spastic_paraplegia|Hereditary_spastic_paraplegia_15	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700,Orphanet:100996	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.07	T	0.995	D	0.77	P	0.005	N	0.996	N	1.87	L	1.66	T	-1.025	T	0.067	T	0.15	1.840	12.11	1.56	0.008	0.714	2.320	0.075	.	0.0075	0.00479233	0.0081	0.0013	0.0066	0	0.0183	0.0103	0.0176	0.0038	0.0078071	1207	154602	rs34952009	0.0083	0.0083	0.0083	0.0084	0.0092	0.0082	0.0082	0.0083	0.0083	0.0014	0.0058	0.0194	2.519e-05	0.0191	0.0092	0.0085	0.0086	0.0038	0.0070	0.0070	0.0070	0.0071	0.0091	0.0067	0.0065	0.0085	0.0083	0.0015	0.0044	0.0054	0.0184	0	0.0192	0.0068	0.0091	0.0085	0.0019	0.228	0.26740	T	0.046	0.49663	D	0.995	0.67487	D	0.77	0.56828	P	0.005344	0.32875	N	0.374659	0.888876	0.27918	N	.	.	.	1.66	0.30669	T	-0.72	0.27259	N	0.29	0.41459	-1.0254	0.21952	T	0.067	0.27399	T	10	0.005324453	0.00117	T	.	.	.	0.075	0.21907	.	.	0.245660935333	0.24156	0.3697957229535575	0.36893	0.275694094207	0.30043	0.360373139381	0.19440	T	0.026196	0.19435	T	-0.552594	0.00281	T	-0.558578	0.16509	T	0.0131855870363913	0.00233	T	0.717128	0.32987	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.17869	B	.;.	.;.	1.825842	0.23202	15.92	0.99238611775217189	0.56469	0.87055	0.46482	D	AEFGBI	0.088247	0.17890	N	-0.217329191195304	0.32423	1.828335	-0.341678853600244	0.26766	1.480646	0.939167708062389	0.27375	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.63	1.56	0.22423	0.740000	0.25856	1.437000	0.26495	-0.193000	0.09282	0.872000	0.30832	1.000000	0.68203	0.302000	0.24547	0.2637:0.4565:0.1283:0.1516	2.320	0.03950	183	0.92871	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	1706.98	40	chr14	67767816	.	C	A	1706.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.300e-01;DP=959;ExcessHet=0.0000;FS=0.613;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=0.889;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1370	20	0	1	0
chr14	67805304	67805304	C	A	exonic	ZFYVE26	.	nonsynonymous SNV	ZFYVE26:NM_015346:exon8:c.G1184T:p.G395V,	Spastic paraplegia 15, autosomal recessive, Autosomal recessive	.	0	1466	55	1	0	57	0.0190699	0	0	186196	Hereditary_spastic_paraplegia|not_specified|Spastic_paraplegia|Hereditary_spastic_paraplegia_15|not_provided|ZFYVE26-related_disorder	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700,Orphanet:100996|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.045	B	0.122	B	0.009	N	1.000	D	0	N	1.86	T	-1.073	T	0.038	T	0.235	1.553	11.15	4.75	1.039	1.476	10.034	0.055	0.0153934194612	0.0027	0.00319489	0.0037	0.0008	0.0018	0	0.0008	0.0039	0.0045	0.0088	0.0035769	553	154602	rs35512910	0.0035	0.0035	0.0032	0.0037	0.0170	0.0034	0.0033	0.0143	0.0133	0.0006	0.0022	0.0018	0	0.0005	0.0170	0.0033	0.0045	0.0090	0.0027	0.0027	0.0026	0.0028	0.0071	0.0025	0.0024	0.0052	0.0046	0.0007	0	0.0045	0.0012	0	0	0.0034	0.0039	0.0066	0.0071	0.222	0.22746	T	0.011	0.64786	D	0.045	0.21781	B	0.122	0.32387	B	0.009491	0.30337	N	0.362779	0.959685	0.38140	D	.	.	.	1.86	0.26588	T	-0.13	0.08971	N	0.165	0.32148	-1.0731	0.08745	T	0.038	0.16505	T	10	0.0025664866	0.00039	T	0.015393	0.36094	T	0.055	0.15663	.	.	0.227934060464	0.22382	0.16169291788472615	0.16090	0.205046829069	0.22922	0.395783305168	0.24482	T	0.007186	0.06605	T	-0.545574	0.00310	T	-0.550483	0.17280	T	0.00825396560210703	0.00099	T	0.391661	0.09743	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.15385	B	.;.	.;.	1.940681	0.24650	16.47	0.93319764922611348	0.23040	0.90446	0.51628	D	AEFGBI	0.377002	0.46094	N	-0.506721545602045	0.21862	1.163319	-0.299626435153439	0.28111	1.564814	0.928976482814212	0.26950	0.562547	0.31514	0	0.577304	0.33150	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.9	4.75	0.59954	1.480000	0.35072	4.234000	0.42669	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.0:0.1357:0.0:0.8643	10.034	0.41291	182	0.92924	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1193.98	34	chr14	67805304	.	C	A	1193.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.169;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=-3.390e-01;SOR=0.686	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	20	0	1	0
chr14	67835107	67835107	G	A	exonic	RAD51B	.	nonsynonymous SNV	RAD51B:NM_001321812:exon3:c.G226A:p.A76T	.	.	431	1077	13	1	0	15	0.00691563	.	.	575589	not_provided|Hereditary_cancer-predisposing_syndrome	MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.12	B	0.082	B	0.794	N	1.000	N	0.66	N	1.18	T	-0.995	T	0.077	T	0.146	0.911	8.706	1.35	0.361	-0.239	1.359	0.017	0.00804482933415	0.0004	0.000199681	0.0004	9.612e-05	0.0003	0	0	0.0004	0.0022	0.0011	0.0003752	58	154602	rs190059291	0.0004	0.0004	0.0003	0.0004	0.0114	0.0003	0.0003	0.0092	0.0084	0.0004	0.0008	7.655e-05	0	0	0.0114	0.0003	0.0005	0.0011	0.0006	0.0006	0.0005	0.0006	0.0030	0.0005	0.0004	0.0023	0.0021	4.816e-05	0	0.0030	0	0	0	0.0034	0.0004	0.0014	0.0012	0.606	0.06030	T	0.63	0.07196	T	0.12	0.26678	B	0.082	0.29098	B	0.793963	0.06728	N	1.097780	1	0.08975	N	0.735	0.18861	N	1.11	0.52867	T	0.36	0.04694	N	0.133	0.12913	-0.9948	0.31352	T	0.077	0.30920	T	10	0.009465814	0.00214	T	0.008045	0.21316	T	0.017	0.02790	.	.	0.349647731962	0.34572	0.20058080439531759	0.19975	0.201809400117	0.22587	0.296105891466	0.09822	T	0.006293	0.31832	T	-0.507114	0.00521	T	-0.557559	0.16607	T	0.0192655840147561	0.00632	T	0.612539	0.23323	T	0.045278892	0.07385	0.049238764	0.07482	0.045278892	0.07385	0.049238764	0.07482	-3.804	0.20864	T	.	.	0.067	0.04119	B	.;.;.;.;.;.	.;.;.;.;.;.	0.886106	0.12595	9.121	0.45458155149075685	0.03569	0.02430	0.06856	N	AEFBI	0.033219	0.03899	N	-0.891295545525062	0.11049	0.5311323	-0.891931998718522	0.12284	0.6310246	0.122335302179627	0.16911	0.651	0.46895	0	0.708844	0.79440	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	5.59	1.35	0.21078	-0.182000	0.09720	1.056000	0.23679	0.676000	0.76740	0.002000	0.15269	0.003000	0.18671	0.211000	0.22211	0.2475:0.1484:0.4511:0.153	1.359	0.02057	182	0.92924	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1125.98	35	chr14	67835107	.	G	A	1125.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.387e+00;DP=867;ExcessHet=0.0000;FS=0.713;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=-1.455e+00;SOR=0.710	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr14	68792964	68792964	C	T	exonic	ZFP36L1	.	nonsynonymous SNV	ZFP36L1:NM_001244701:exon2:c.G182A:p.R61H,	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.958	D	.	.	.	.	-0.698	T	0.174	T	0.142	1.526	11.05	3.34	1.920	0.249	10.644	0.019	.	7.7e-05	0.000199681	0.0002	0	8.646e-05	0.0002	0	6e-05	0	0.0010	0.0001552	24	154602	rs139683444	0.0001	0.0001	7.899e-05	0.0002	0.0012	0.0001	0.0001	0.0010	0.0010	0	0.0001	0.0005	5.039e-05	0	0.0009	2.788e-05	0.0002	0.0012	8.539e-05	9.187e-05	0.0001	5.375e-05	0.0004	4.956e-05	3.961e-05	7.29e-05	5.088e-05	2.407e-05	0	0	0	0.0002	0	0	0.0001	0	0.0004	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.957908	0.38048	D	.	.	.	.	.	.	-0.05	0.07736	N	.	.	-0.6977	0.60548	T	0.174	0.51690	T	4	0.020316869	0.00466	T	.	.	.	0.019	0.03383	.	.	0.082315109003	0.07666	.	.	.	.	0.367200553417	0.20429	T	.	.	.	-0.427299	0.01539	T	-0.432114	0.29695	T	0.169451042815371	0.18543	T	0.360864	0.08314	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.28920	B	.	.	1.934060	0.24567	16.44	0.97843239963417039	0.36345	0.17151	0.19711	N	ALL	0.101853	0.20446	N	-0.257223425016654	0.30815	1.721856	-0.337285855725426	0.26905	1.489227	0.999999999999986	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.28	3.34	0.37357	0.274000	0.18443	1.400000	0.26189	0.599000	0.40250	0.005000	0.17040	0.005000	0.19230	0.090000	0.17789	0.191:0.809:0.0:0.0	10.644	0.44803	625	0.65529	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1209.98	34	chr14	68792964	.	C	T	1209.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.859e+00;DP=822;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.24;ReadPosRankSum=-9.090e-01;SOR=0.634	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr14	69054396	69054396	C	T	exonic	DCAF5	.	nonsynonymous SNV	DCAF5:NM_001284206:exon9:c.G2287A:p.D763N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.447	B	0.25	B	0.000	D	1.000	D	0.805	L	0.13	T	-0.750	T	0.221	T	0.059	0.829	8.342	3.92	1.243	3.637	13.300	0.081	0.0442769391499	.	.	2.478e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs780297054	1.026e-05	1.026e-05	8.168e-06	1.238e-05	0.0002	6.16e-06	4.89e-06	7.123e-05	5.481e-05	0	0	0	0	0	0.0002	1.799e-06	1.656e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.138	0.33894	T	0.319	0.32965	B	0.127	0.32738	B	0.000399	0.44960	D	0.096931	0.954442	0.37878	D	0.805	0.20218	L	-0.5	0.70480	T	-0.6	0.17834	N	0.178	0.51851	-0.7501	0.57930	T	0.221	0.58485	T	10	0.09822461	0.17746	T	0.044277	0.61408	D	0.081	0.23632	0.211	0.12923	0.343804874344	0.33996	0.08786702182348162	0.08719	0.289761338798	0.31384	0.470105290413	0.34695	T	0.020825	0.16329	T	-0.337615	0.05555	T	-0.486069	0.23803	T	0.113076832603842	0.13739	T	0.838216	0.51127	T	0.12397771	0.29101	0.11987186	0.28932	0.12397771	0.29100	0.11987186	0.28931	-3.691	0.19185	T	.	.	0.083	0.21466	B	.;.;.;.	.;.;.;.	3.247344	0.44358	21.9	0.97911204010814423	0.36815	0.95186	0.63755	D	AEFDBI	0.315177	0.41983	N	-0.356385541445597	0.27039	1.48034	-0.274151125847166	0.28954	1.618325	0.999999770611412	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	4.81	3.92	0.44525	3.688000	0.54430	4.901000	0.45859	-0.202000	0.08738	1.000000	0.71638	1.000000	0.68203	0.093000	0.17941	0.0:0.9232:0.0:0.0768	13.300	0.59752	877	0.30165	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1182.98	35	chr14	69054396	.	C	T	1182.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=847;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.29;ReadPosRankSum=0.484;SOR=0.651	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1300	20	0	1	0
chr14	69122295	69122295	T	C	exonic	DCAF5	.	nonsynonymous SNV	DCAF5:NM_001284206:exon2:c.A280G:p.I94V	.	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.003	B	0.003	B	0.001	D	0.969	D	-0.17	N	1.6	T	-1.083	T	0.060	T	0.087	1.678	11.57	1.96	0.393	1.396	7.699	0.032	0.00399968796386	0.0002	0.000998403	0.0003	0	8.672e-05	0	0	0.0003	0	0.0007	0.0002587	40	154602	rs149306770	0.0003	0.0003	0.0002	0.0003	0.0073	0.0003	0.0002	0.0055	0.0049	8.961e-05	0.0002	0	0	0	0.0073	0.0002	0.0004	0.0012	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	9.693e-05	0.0002	0.0001	4.81e-05	0	0.0001	0	0	0	0	0.0003	0.0005	0.0004	0.467	0.10802	T	1.0	0.02685	T	0.003	0.11197	B	0.001	0.06944	B	0.000887	0.41231	D	0.216774	0.968656	0.38675	D	-1.32	0.00691	N	1.6	0.65931	T	0.23	0.04613	N	0.072	0.06059	-1.0829	0.06795	T	0.060	0.25237	T	10	0.0116221905	0.00253	T	0.004	0.09493	T	0.032	0.07718	.	.	0.0934897674506	0.08844	0.09926267678117934	0.09857	1.03285227811	0.75478	0.452510535717	0.32287	T	0.026902	0.19814	T	-0.474108	0.00802	T	-0.526604	0.19628	T	0.0207430000855697	0.00774	T	0.835216	0.50504	T	0.019868894	0.00528	0.024162482	0.00432	0.019868894	0.00527	0.024162482	0.00432	-2.526	0.09253	T	.	.	0.056	0.03887	B	.;.;.;.;.;.	.;.;.;.;.;.	1.410379	0.18257	13.64	0.92678203058504605	0.22163	0.68567	0.33851	D	AEFDGBI	0.091362	0.18507	N	-0.74526079491701	0.14762	0.7381456	-0.525363286589432	0.21465	1.161342	0.938790932921965	0.27359	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.53	1.96	0.25203	1.406000	0.34254	0.823000	0.21872	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.3307:0.0:0.6693	7.699	0.27777	890	0.26919	WD40-repeat-containing domain;.;.;.;WD40-repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1666.98	33	chr14	69122295	.	T	C	1666.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.605;DP=857;ExcessHet=0.0000;FS=2.780;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.16;ReadPosRankSum=-2.099e+00;SOR=0.964	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1174	20	0	1	0
chr14	69572464	69572464	C	A	exonic	CCDC177	.	nonsynonymous SNV	CCDC177:NM_001271507:exon2:c.G1159T:p.A387S,	.	.	405	1105	12	0	0	12	0.00540054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135353540285	.	.	.	.	.	.	.	.	.	.	0.0013447	35	26028	rs971462943	0.0039	0.0029	0.0039	0.0040	0.0042	0.0038	0.0038	0.0041	0.0041	0.0004	0.0022	0.0067	0	0.0020	0.0021	0.0042	0.0032	0.0012	0.0023	0.0023	0.0023	0.0023	0.0039	0.0021	0.0020	0.0035	0.0034	0.0003	0	0.0018	0.0049	0	0.0016	0.0137	0.0039	0.0014	0.0008	.	.	.	0.198	0.27767	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.04	0.26193	L	1.88	0.23884	T	.	.	.	0.062	0.03392	.	.	.	.	.	.	.	0.03376448	0.01562	T	0.135354	0.81781	D	.	.	.	.	0.231231049324	0.22751	0.022871099289075856	0.02239	.	.	0.874193251133	0.93162	D	0.010936	0.09820	T	-0.602508	0.00141	T	-0.641288	0.09575	T	.	.	.	0.738626	0.35686	T	0.11212925	0.26491	0.37037072	0.62288	0.11212925	0.26491	0.37037072	0.62288	-5.263	0.39576	T	.	.	0.159	0.35162	B	.	.	3.009663	0.40247	21.1	0.85119148668791023	0.15697	0.79651	0.39511	D	AEFDGBHCI	0.275554	0.39049	N	.	.	.	.	.	.	0.999955461734115	0.48110	0.59774	0.34471	0	0.596491	0.49125	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	3.91	2.0	0.25495	2.677000	0.46558	2.024000	0.30222	0.462000	0.21616	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.3202:0.6798:0.0:0.0	11.775	0.51251	409	0.82198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	424.98	25	chr14	69572464	.	C	A	424.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.836;DP=710;ExcessHet=0.0000;FS=1.536;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.65;ReadPosRankSum=-5.920e-01;SOR=1.270	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,929	20	0	1	0
chr14	69572725	69572725	C	T	exonic	CCDC177	.	nonsynonymous SNV	CCDC177:NM_001271507:exon2:c.G898A:p.G300S,	.	.	489	1019	14	0	0	14	0.00682261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0081869	0.1667	0.25	.	.	.	0	.	.	0.0009444	146	154602	rs112597196	0.0057	0.0044	0.0057	0.0058	0.0191	0.0056	0.0056	0.0176	0.0170	0.0191	0.0057	0.0038	3.772e-05	0.0128	0.0165	0.0054	0.0066	0.0031	0.0098	0.0099	0.0099	0.0097	0.0175	0.0094	0.0092	0.0165	0.0160	0.0175	0.0011	0.0082	0.0055	0	0.0127	0.0170	0.0066	0.0104	0.0025	.	.	.	0.379	0.16037	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.095	0.27400	L	1.85	0.24472	T	.	.	.	0.112	0.09914	.	.	.	.	.	.	.	0.0028022528	0.00044	T	.	.	.	.	.	.	.	.	.	0.08548746969442873	0.08482	.	.	0.782288968563	0.79273	T	0.015139	0.12759	T	-0.585505	0.00178	T	-0.598877	0.12906	T	.	.	.	0.582642	0.21138	T	0.090948656	0.21298	0.15418081	0.36196	0.090948656	0.21298	0.15418081	0.36196	-4.213	0.26939	T	.	.	0.219	0.44948	B	.	.	3.430428	0.47670	22.5	0.97456485833148221	0.34058	0.91475	0.53609	D	AEFDGBCI	0.349290	0.44313	N	.	.	.	.	.	.	0.999552068343067	0.40362	0.676563	0.55306	0	0.563428	0.19063	0	0.673471	0.61138	0	0.554799	0.18163	0	.	.	3.75	0.84	0.18047	5.149000	0.64707	2.542000	0.33220	0.515000	0.23462	1.000000	0.71638	0.990000	0.31317	0.374000	0.26200	0.0:0.7333:0.0:0.2667	8.369	0.31567	409	0.82198	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.02381	1840.98	33	chr14	69572725	.	C	T	1840.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.09;DP=935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.27;ReadPosRankSum=0.859;SOR=0.741	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr14	69573090	69573092	GCG	-	exonic	CCDC177	.	nonframeshift deletion	CCDC177:NM_001271507:exon2:c.531_533del:p.A180del,	.	.	481	42	22	831	146	1830	0.952489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	15285.35	10	chr14	69573086	.	CGCGGCG	C,CGCG	15285.35	.	AC=40,2;AF=0.952,0.048;AN=42;DP=467;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=60.00;QD=30.04;SOR=1.246	GT:AD:DP:GQ:PL	1/1:0,16,0:16:48:707,48,0,707,48,707	0	19	0	0
chr14	69776337	69776337	C	A	exonic	SLC10A1	.	nonsynonymous SNV	SLC10A1:NM_003049:exon5:c.G995T:p.G332V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.047	B	0.017	B	0.066	N	1.000	N	0.805	L	3.17	T	-1.026	T	0.018	T	0.567	1.390	10.58	-6.29	-1.515	-2.785	13.481	0.183	0.00284292488241	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs567292118	2.053e-06	2.052e-06	1.362e-06	2.751e-06	8.962e-05	5.5e-07	1.5e-07	2.375e-05	1.258e-05	8.962e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	0.10588	T	0.07	0.43721	T	0.047	0.21998	B	0.017	0.18140	B	0.065889	0.02194	N	1.888390	0.999999	0.08975	N	1.78	0.46185	L	3.17	0.07599	T	-0.37	0.13226	N	0.086	0.06322	-1.0256	0.21886	T	0.018	0.07565	T	10	0.048048586	0.04204	T	0.002843	0.05956	T	0.183	0.45592	0.292	0.25400	0.0954503805726	0.09146	0.5129913047209612	0.51221	0.00135844162341	0.00116	0.18957786262	0.00218	T	0.125961	0.45202	T	-0.22955	0.16708	T	-0.567509	0.15679	T	0.111533768475056	0.13581	T	0.630337	0.24523	T	0.033330288	0.03529	0.06045079	0.11514	0.033330288	0.03529	0.06045079	0.11514	-1.743	0.02345	T	.	.	0.073	0.04477	B	.	.	-1.212226	0.00518	0.012	0.69732803401608956	0.09067	0.17203	0.19734	N	AEFDBHCI	0.264336	0.38170	N	-1.69042425118096	0.00876	0.03792163	-1.77514534138578	0.00842	0.03762257	0.999999995262446	0.74766	0.498214	0.20090	0	0.573116	0.20632	0	0.572659	0.19721	0	0.711	0.71501	0	.	.	5.13	-6.29	0.01838	-3.055000	0.00688	-4.087000	0.02350	-1.275000	0.01275	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.1278:0.6608:0.2114	13.481	0.60791	774	0.48577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1077.98	34	chr14	69776337	.	C	A	1077.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.174;DP=757;ExcessHet=0.0000;FS=0.902;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.77;ReadPosRankSum=-7.170e-01;SOR=0.926	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1318	20	0	1	0
chr14	69796879	69796879	T	C	exonic	SLC10A1	.	nonsynonymous SNV	SLC10A1:NM_003049:exon1:c.A277G:p.I93V,	.	.	.	.	.	.	.	.	.	.	.	3211951	SLC10A1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.01	B	0.027	B	0.000	D	0.941	D	-0.47	N	2.83	T	-0.990	T	0.010	T	0.193	-1.217	0.064	3.87	0.939	2.311	7.337	0.074	0.00367328553119	.	0.000399361	0.0003	0	0	0	0	0	0	0.0025	0.0002781	43	154602	rs200105842	0.0002	0.0002	5.853e-05	0.0003	0.0026	0.0001	0.0001	0.0023	0.0022	0	0	0	0	0	0	0	9.935e-05	0.0026	5.251e-05	5.249e-05	3.854e-05	6.711e-05	0.0014	2.555e-05	1.828e-05	0.0007	0.0005	0	0	6.536e-05	0	0	0	0	0	0	0.0014	1.0	0.00964	T	1.0	0.01155	T	0.01	0.15535	B	0.027	0.21085	B	0.000001	0.84330	D	0.057807	0.94129	0.37329	D	0.37	0.12060	N	2.83	0.10771	T	0.49	0.02993	N	0.115	0.10340	-0.9900	0.32601	T	0.010	0.03673	T	10	0.010635704	0.00236	T	0.003673	0.08464	T	0.074	0.21613	0.549	0.66436	0.307016933798	0.30308	0.3631320020029694	0.36227	0.00182622468406	0.00154	0.484697759151	0.36704	T	0.066097	0.32858	T	-0.59853	0.00149	T	-0.638071	0.09810	T	0.0341114443522106	0.02657	T	0.812519	0.46414	T	0.048370495	0.08419	0.05017965	0.07822	0.048370495	0.08419	0.05017965	0.07821	-2.265	0.04368	T	.	.	0.088	0.11749	B	.	.	1.243212	0.16394	12.51	0.23109200840338517	0.00962	0.73201	0.35810	D	AEFGBI	0.287344	0.39951	N	-0.691827811925926	0.16253	0.8264454	-0.478638764272212	0.22743	1.23681	0.999646335152391	0.41316	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.01	3.87	0.43823	1.963000	0.40076	5.048000	0.46972	0.644000	0.52426	0.993000	0.37899	1.000000	0.68203	0.088000	0.17685	0.0:0.2376:0.0:0.7624	7.337	0.25788	773	0.48803	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1761.98	40	chr14	69796879	.	T	C	1761.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.520;DP=905;ExcessHet=0.0000;FS=0.559;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.90;ReadPosRankSum=-4.530e-01;SOR=0.640	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1341	20	0	1	0
chr14	70046270	70046270	T	C	exonic	SLC8A3	.	nonsynonymous SNV	SLC8A3:NM_182936:exon5:c.A532G:p.I178V	.	.	431	1080	11	0	0	11	0.00506679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.943	P	0.941	D	0.000	D	1.000	D	0.56	N	-0.06	T	-0.674	T	0.269	T	0.246	3.436	17.62	5.76	2.197	6.289	16.086	0.205	0.0150688215027	0.0012	0.000798722	0.0021	9.694e-05	0.0003	0	0	0.0024	0.0022	0.0053	0.0018176	281	154602	rs150876389	0.0014	0.0014	0.0012	0.0016	0.0057	0.0013	0.0013	0.0053	0.0051	8.961e-05	0.0006	0.0205	0	5.618e-05	0.0036	0.0007	0.0023	0.0057	0.0011	0.0011	0.0013	0.0010	0.0048	0.0010	0.0010	0.0033	0.0028	0.0002	0	0.0003	0.0196	0	0	0.0034	0.0010	0.0019	0.0048	0.323	0.13699	T	0.404	0.15355	T	0.858	0.53072	P	0.867	0.67658	P	0.000000	0.84330	D	0.052440	1	0.81001	D	0.44	0.12706	N	-0.06	0.63568	T	-0.14	0.15986	N	0.297	0.49328	-0.6736	0.61665	T	0.269	0.64066	T	10	0.010262281	0.00229	T	0.015069	0.35586	T	0.205	0.49236	.	.	0.168254554758	0.16434	0.6494899498026514	0.64884	0.231541109432	0.25707	0.604542732239	0.53546	T	0.112443	0.42872	T	-0.396281	0.02449	T	-0.340364	0.40303	T	0.0603514966274254	0.07224	T	0.984502	0.94671	D	0.12602532	0.29529	0.16695906	0.38544	0.12602532	0.29529	0.16695906	0.38543	-4.686	0.33561	T	.	.	0.065	0.08560	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.378950	0.46730	22.3	0.99835733928459636	0.91714	0.94211	0.60451	D	ALL	0.738911	0.68363	D	0.333959947340165	0.57900	3.959235	0.444276640483785	0.64349	4.688171	1.0	0.98316	0.65861	0.49226	0	0.688826	0.66785	0	0.440796	0.06475	0	0.636	0.56748	0	.	.	5.76	5.76	0.90726	6.271000	0.72566	6.209000	0.54989	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	16.086	0.80864	709	0.56835	.;Sodium/calcium exchanger membrane region;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1704.98	34	chr14	70046270	.	T	C	1704.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.487e+00;DP=826;ExcessHet=0.0000;FS=4.357;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=0.904;SOR=0.406	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1109	20	0	1	0
chr14	70523238	70523238	G	A	exonic	ADAM20	.	nonsynonymous SNV	ADAM20:NM_003814:exon2:c.C1520T:p.T507M,	.	.	.	.	.	.	.	.	.	.	.	2718596	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.076	B	0.066	B	0.524	N	1.000	N	0.075	N	1.93	T	-1.012	T	0.030	T	0.056	0.870	8.525	-0.799	-0.420	-0.538	0.572	0.021	0.00644024526204	.	.	4.121e-05	0	0	0.0001	0	5.995e-05	0	0	3.23e-05	5	154602	rs188347579	1.505e-05	1.505e-05	1.634e-05	1.375e-05	2.519e-05	9.85e-06	8.41e-06	5.31e-06	3.88e-06	0	0	0	2.519e-05	7.49e-05	0	9.893e-06	6.624e-05	2.319e-05	6.577e-06	6.568e-06	1.286e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.065	0.36310	T	0.095	0.39492	T	.	.	.	.	.	.	0.523885	0.05218	N	1.398570	1	0.08975	N	.	.	.	1.93	0.22881	T	-0.65	0.18877	N	0.039	0.01274	-1.0115	0.26447	T	0.030	0.13023	T	10	0.03456846	0.01669	T	0.00644	0.16956	T	0.021	0.04004	.	.	0.0611884634855	0.05136	.	.	0.0324175799462	0.03388	0.25660443306	0.04494	T	.	.	.	-0.52906	0.00389	T	-0.772033	0.02702	T	0.0317734797323679	0.02270	T	0.0426957	0.00301	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.418589	0.18349	13.69	0.94175839387844207	0.24392	0.03592	0.08815	N	AEFGBI	0.081773	0.16550	N	-1.40028581316539	0.02637	0.1167065	-1.41798922295091	0.03072	0.1425964	0.0138952696341325	0.12524	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.66	-0.799	0.10351	-0.072000	0.11446	-7.317000	0.01183	-0.680000	0.04236	0.000000	0.06391	0.000000	0.08366	0.101000	0.18331	0.2077:0.1835:0.3018:0.307	0.572	0.00651	692	0.58729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2862.98	135	chr14	70523238	.	G	A	2862.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=1169;ExcessHet=0.0000;FS=1.029;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=1.18;SOR=0.775	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1106	20	0	1	0
chr14	70642268	70642268	-	CGGCCGAGC	exonic	TTC9	.	nonframeshift insertion	TTC9:NM_015351:exon1:c.139_140insCGGCCGAGC:p.E52_L53insPAE,	.	.	374	1147	1	0	0	1	0.00043573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0013	0	0	0	0	0.0020	0	0.0011	0.0007684	20	26028	rs536435274	0.0020	0.0020	0.0021	0.0020	0.0024	0.0020	0.0019	0.0023	0.0023	0.0002	0.0012	8.535e-05	0	0.0002	0.0002	0.0024	0.0019	0.0009	0.0012	0.0012	0.0014	0.0010	0.0020	0.0011	0.0010	0.0017	0.0016	0.0004	0	0.0014	0	0	9.571e-05	0	0.0020	0.0014	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	859.94	33	chr14	70642268	.	G	GCGGCCGAGC	859.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.121;DP=847;ExcessHet=0.0000;FS=1.001;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=-4.480e-01;SOR=0.875	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,101,1055	20	0	1	0
chr14	70738300	70738300	G	A	exonic	MAP3K9	.	nonsynonymous SNV	MAP3K9:NM_001284232:exon7:c.C1015T:p.R339W	.	.	404	1117	1	0	0	1	0.000447427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	1.0	D	0.996	D	0.000	D	1.000	D	1.485	L	2.56	T	-1.194	T	0.089	T	0.896	3.672	18.66	5.97	2.837	5.520	20.428	0.261	0.0413931744124	0.0002	0.000399361	0.0005	0	0.0002	0	0	0.0004	0	0.0018	0.0003816	59	154602	rs142599599	0.0004	0.0004	0.0003	0.0004	0.0031	0.0003	0.0003	0.0020	0.0017	2.987e-05	0.0001	0	7.564e-05	0	0.0031	0.0003	0.0005	0.0020	0.0002	0.0002	0.0002	0.0001	0.0010	0.0001	9.698e-05	0.0004	0.0003	7.221e-05	0	0.0003	0	0	0	0	0.0002	0	0.0010	0.055	0.51248	T	0.014	0.62352	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999995	0.81001	D	1.965	0.53209	M	2.56	0.13673	T	-4.66	0.81030	D	0.739	0.90025	-1.1943	0.00197	T	0.089	0.34160	T	10	0.16843945	0.31395	T	0.041393	0.59904	D	0.261	0.57352	.	.	0.683016084099	0.68031	0.3876492769807547	0.38679	1.01292625865	0.74835	0.838591396809	0.87880	D	0.111438	0.81659	T	-0.154337	0.27635	T	-0.0134849	0.69457	D	0.170555304305258	0.18617	T	0.990201	0.96964	D	0.31134605	0.53902	0.33000213	0.58874	0.31134605	0.53902	0.33000213	0.58873	-8.024	0.62660	D	.	.	0.286	0.51840	B	.;.;.;.;.;.	.;.;.;.;.;.	5.300305	0.88984	29.8	0.99924663780018896	0.98980	0.99209	0.92840	D	AEFDBI	0.782750	0.71394	D	0.58049421409815	0.71958	5.730784	0.582470740974034	0.73683	6.010882	0.999999933218783	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.564101	0.26826	0	.	.	5.97	5.97	0.96935	5.266000	0.65339	9.930000	0.82573	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.310000	0.24737	0.0:0.0:1.0:0.0	20.428	0.99077	819	0.41190	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1843.98	34	chr14	70738300	.	G	A	1843.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=898;ExcessHet=0.0000;FS=2.694;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.91;ReadPosRankSum=0.038;SOR=0.507	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1254	20	0	1	0
chr14	70962282	70962282	T	C	exonic	PCNX1	.	nonsynonymous SNV	PCNX1:NM_001308160:exon3:c.T419C:p.V140A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.984	D	0.956	D	0.000	D	1.000	D	1.59	L	1.02	T	-0.913	T	0.185	T	0.754	3.459	17.72	5.29	2.137	6.335	15.515	0.104	0.025782610251	.	.	8.239e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs759109869	4.105e-06	4.104e-06	4.085e-06	4.126e-06	0.0003	1.48e-06	9.7e-07	6.098e-05	2.523e-05	0	0	0	0	0	0.0003	8.996e-07	3.313e-05	1.159e-05	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.04	0.42199	D	0.011	0.64786	D	0.984	0.60733	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	0.999952	0.52396	D	1.93	0.51437	L	1.02	0.40749	T	-2.25	0.50830	N	0.737	0.74553	-0.9133	0.46441	T	0.185	0.53436	T	10	0.4951467	0.61222	T	0.025783	0.48731	D	0.104	0.29647	0.257	0.19845	0.043077524339	0.03247	0.39557960259714	0.39472	0.569230917406	0.53109	0.730319619179	0.71552	T	0.126431	0.45281	T	0.00832018	0.52795	T	-0.128971	0.61058	T	0.853155076503754	0.50440	D	0.919408	0.73215	D	0.2606926	0.49126	0.2352703	0.48766	0.2606926	0.49126	0.2352703	0.48765	-3.078	0.11045	T	.	.	0.356	0.70828	A	.;.	.;.	4.579112	0.72322	25.8	0.99465519671233305	0.66049	0.94730	0.62132	D	AEFBI	0.615509	0.60242	D	0.466940970310215	0.65172	4.789022	0.498437025024803	0.67887	5.144473	0.99999638477482	0.74766	0.736574	0.97449	0	0.653731	0.59785	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.29	5.29	0.74430	6.153000	0.71612	7.798000	0.69068	0.607000	0.46521	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	15.515	0.75552	768	0.49510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1377.98	36	chr14	70962282	.	T	C	1377.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.10;DP=790;ExcessHet=0.0000;FS=2.563;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=-1.143e+00;SOR=0.544	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1217	20	0	1	0
chr14	71073643	71073643	C	G	exonic	PCNX1	.	nonsynonymous SNV	PCNX1:NM_001308160:exon25:c.C4618G:p.L1540V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.997	D	0.986	D	0.000	D	1.000	D	2.485	M	2.19	T	-0.614	T	0.189	T	0.918	4.580	24.9	4.97	2.751	3.602	18.799	0.234	0.0299911457101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.978	0.74104	D	0.000001	0.62929	D	0.059956	1	0.81001	D	2.85	0.82803	M	2.07	0.25678	T	-2.94	0.61435	D	0.731	0.73195	-0.6140	0.64238	T	0.189	0.54019	T	10	0.5418059	0.63762	D	0.029991	0.52391	D	0.234	0.53644	0.185	0.09388	0.381271297758	0.37743	0.7888197130044808	0.78833	1.20180106585	0.80564	0.64098161459	0.58704	T	0.407736	0.76326	T	0.257306	0.79279	D	0.131826	0.79011	D	0.9922696352005	0.82702	D	0.989401	0.96508	D	0.7499594	0.80866	0.6292892	0.78379	0.7499594	0.80867	0.6292892	0.78380	-11.607	0.83007	D	.	.	0.589	0.68433	P	.;.	.;.	4.434330	0.68789	25.3	0.99864898751759745	0.94276	0.97303	0.73904	D	AEFGBI	0.581448	0.58146	D	0.60440224524503	0.73454	5.968486	0.590991757161308	0.74292	6.112367	0.999999999890561	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.97	4.97	0.65419	3.783000	0.55114	7.714000	0.66958	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	18.799	0.91973	775	0.48401	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1448.98	47	chr14	71073643	.	C	G	1448.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.178;DP=916;ExcessHet=0.0000;FS=1.378;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.89;ReadPosRankSum=0.581;SOR=0.808	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr14	71730293	71730293	C	T	exonic	SIPA1L1	.	nonsynonymous SNV	SIPA1L1:NM_001284246:exon17:c.C4853T:p.S1618L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.969	D	0.352	B	0.010	N	1.000	D	1.59	L	1.4	T	-0.972	T	0.102	T	0.741	3.122	16.43	5.47	2.560	5.565	19.322	0.187	0.0104303913702	.	0.00119808	0.0007	0	8.637e-05	0	0	9.022e-05	0	0.0049	0.0006015	93	154602	rs200944919	0.0003	0.0003	0.0002	0.0004	0.0046	0.0003	0.0003	0.0042	0.0041	2.987e-05	0	0	0	3.744e-05	0.0003	1.079e-05	0.0003	0.0046	0.0002	0.0002	8.996e-05	0.0003	0.0054	0.0001	0.0001	0.0038	0.0032	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0054	0.018	0.57480	D	0.029	0.57104	D	0.011	0.56768	B	0.007	0.42883	B	0.009956	0.30129	N	0.333421	0.999927	0.51308	D	2.22	0.62911	M	1.4	0.33630	T	-2.49	0.54217	N	0.687	0.74371	-0.9719	0.36798	T	0.102	0.37669	T	10	0.008533388	0.00193	T	0.01043	0.26958	T	0.187	0.46274	0.144	0.04746	0.253981072376	0.25009	0.3640486020568472	0.36318	0.328058604343	0.34932	0.742646217346	0.73362	T	0.182	0.53453	T	-0.258925	0.13026	T	-0.144026	0.59767	T	0.0875922887815413	0.10929	T	0.961204	0.85427	D	0.1542624	0.34925	0.16111445	0.37492	0.1542624	0.34924	0.16111445	0.37491	-3.504	0.16501	T	.	.	0.209	0.43572	B	.;.;.;.	.;.;.;.	3.957713	0.58026	23.9	0.99847012522447365	0.92663	0.99522	0.97031	D	AEFGBI	0.611102	0.59968	D	0.249476774683396	0.53612	3.529404	0.345387085775125	0.58229	3.992387	0.999999999985724	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	5.954000	0.70017	7.687000	0.65600	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.794000	0.37478	0.0:1.0:0.0:0.0	19.322	0.94233	683	0.59664	.;Signal-induced proliferation-associated 1-like protein, C-terminal;.;Signal-induced proliferation-associated 1-like protein, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1561.98	33	chr14	71730293	.	C	T	1561.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.07;ReadPosRankSum=-5.520e-01;SOR=0.720	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1272	20	0	1	0
chr14	72937999	72937999	G	C	exonic	DCAF4	.	nonsynonymous SNV	DCAF4:NM_001163508:exon2:c.G21C:p.Q7H	.	.	424	1090	8	0	0	8	0.00365631	.	.	2358897	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.002	B	0.003	B	0.705	N	1.000	N	1.1	L	0.47	T	-0.910	T	0.186	T	0.13	2.160	13.18	1.41	0.310	0.243	3.886	0.053	0.0336507614498	0.0002	0.000399361	0.0004	9.992e-05	0.0003	0	0	0.0002	0.0011	0.0014	0.000304	47	154602	rs151012011	0.0002	0.0002	0.0002	0.0003	0.0026	0.0002	0.0002	0.0016	0.0013	6.1e-05	0.0001	3.874e-05	0	1.881e-05	0.0026	0.0002	0.0003	0.0014	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	9.694e-05	0.0004	0.0003	4.812e-05	0	6.534e-05	0	0	0	0	0.0002	0	0.0010	0.014	0.61437	D	0.364	0.17014	T	0.001	0.09854	B	0.001	0.04355	B	0.704571	0.06223	N	1.149400	1	0.08975	N	1.65	0.42232	L	0.47	0.68329	T	-0.79	0.26200	N	0.116	0.18376	-0.9097	0.46891	T	0.186	0.53541	T	10	0.007843971	0.00178	T	0.033651	0.55129	D	0.053	0.14996	0.148	0.05138	0.348764635752	0.34483	0.39810288301288643	0.39725	0.679773240705	0.59950	.	.	.	0.004401	0.03807	T	-0.45113	0.01112	T	-0.461326	0.26455	T	0.0199312993544112	0.00694	T	0.70183	0.31167	T	0.060677912	0.12478	0.050065093	0.07782	0.060677912	0.12477	0.050065093	0.07781	-3.288	0.14602	T	.	.	0.124	0.36174	B	.;.;.;.	.;.;.;.	1.369446	0.17795	13.37	0.97883581960505717	0.36621	0.04499	0.10120	N	AEFDBI	0.040007	0.05890	N	-0.856795631226332	0.11884	0.5760062	-0.876279804510012	0.12657	0.6523564	0.835395817691741	0.24769	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.63	1.41	0.21461	0.129000	0.15656	-0.051000	0.12545	0.526000	0.24426	0.009000	0.18154	0.000000	0.08366	0.811000	0.38219	0.2832:0.2676:0.4492:0.0	3.886	0.08605	795	0.45444	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	957.98	34	chr14	72937999	.	G	C	957.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.768e+00;DP=1021;ExcessHet=0.0000;FS=0.918;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=-2.325e+00;SOR=0.902	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1278	20	0	1	0
chr14	72956443	72956443	A	T	exonic	DCAF4	.	nonsynonymous SNV	DCAF4:NM_181341:exon11:c.A1057T:p.N353Y	.	.	410	1111	1	0	0	1	0.000449843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	3.02	M	0.43	T	0.351	D	0.589	D	0.847	4.383	23.2	5.19	1.968	8.962	15.067	0.684	0.297178941319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.92824	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	2.79	0.81396	M	-0.59	0.71543	T	-7.56	0.95216	D	0.925	0.96187	0.351	0.88354	D	0.589	0.85277	D	10	0.8679389	0.86046	D	0.297179	0.90761	D	0.684	0.88443	0.475	0.55182	0.914672770584	0.91381	0.4389176264366184	0.43808	0.973056639584	0.73451	0.540588796139	0.44528	T	0.186541	0.53986	T	0.317574	0.84298	D	0.218397	0.84093	D	0.998816132545471	0.95250	D	0.950705	0.83186	D	0.8630363	0.88318	0.7209419	0.83523	0.8630363	0.88319	0.7209419	0.83524	-13.022	0.90066	D	.	.	0.926	0.84963	P	.;.;.;.;.;.	.;.;.;.;.;.	4.505112	0.70502	25.5	0.99447103430383521	0.65071	0.99189	0.92544	D	AEFDGBI	0.867027	0.78666	D	0.827100716683384	0.87769	9.334075	0.753500927981042	0.86417	8.882911	0.999999706749507	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.19	5.19	0.71428	8.947000	0.92735	11.152000	0.87379	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.396000	0.26692	1.0:0.0:0.0:0.0	15.067	0.71670	834	0.38640	WD40-repeat-containing domain;WD40-repeat-containing domain;.;.;.;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1822.98	34	chr14	72956443	.	A	T	1822.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.044e+00;DP=829;ExcessHet=0.0000;FS=0.647;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.81;ReadPosRankSum=0.196;SOR=0.811	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1318	20	0	1	0
chr14	73251013	73251013	C	T	exonic	PAPLN	.	nonsynonymous SNV	PAPLN:NM_001365907:exon6:c.C572T:p.A191V	.	.	410	1109	1	2	0	5	0.00224921	.	.	2199245	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.3	T	0.003	B	0.016	B	.	.	1.000	N	0.095	N	0.65	T	-1.027	T	0.102	T	0.197	1.122	9.574	2.46	0.545	0.830	4.788	0.034	0.0239117969001	0.0006	0.000798722	0.0003	0.0019	0.0003	0	0	0.0002	0	0	0.0002975	46	154602	rs146070218	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0001	0.0015	0.0014	0.0019	0.0007	7.675e-05	2.52e-05	0	0.0009	0.0001	0.0004	0	0.0006	0.0006	0.0006	0.0005	0.0015	0.0005	0.0004	0.0012	0.0011	0.0015	0	0.0006	0	0	0	0	0.0001	0.0009	0	0.466	0.17761	T	0.675	0.08245	T	0.003	0.11197	B	0.016	0.17743	B	.	.	.	.	0.999985	0.18198	N	0.845	0.21182	L	-0.06	0.63568	T	-1.49	0.36385	N	0.161	0.23506	-1.0269	0.21462	T	0.102	0.37694	T	9	0.008461833	0.00192	T	0.023912	0.46889	T	0.034	0.08419	.	.	0.159798565429	0.15598	0.3991544392045046	0.39830	0.226942445417	0.25244	0.447270929813	0.31571	T	0.004992	0.04418	T	-0.46778	0.00878	T	-0.451974	0.27480	T	0.00497181304367381	0.00054	T	0.675332	0.28483	T	0.04115766	0.06011	0.054247417	0.09294	0.04115766	0.06010	0.054247417	0.09293	-6.92	0.53447	T	.	.	0.127	0.34602	B	.;.;.;.	.;.;.;.	2.157853	0.27490	17.48	0.96402277318971319	0.29692	0.28675	0.23618	N	AEFDGBI	0.056796	0.10529	N	-0.551911935532912	0.20425	1.076559	-0.400235491153791	0.24991	1.371699	0.999820056958063	0.43622	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.33	2.46	0.29032	0.969000	0.28967	1.693000	0.28083	0.585000	0.30472	0.727000	0.28892	0.994000	0.32194	0.687000	0.33748	0.0:0.624:0.1791:0.197	4.788	0.12604	758	0.50837	ADAM-TS Spacer 1;.;ADAM-TS Spacer 1;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	512.98	34	chr14	73251013	.	C	T	512.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.26;DP=778;ExcessHet=0.0000;FS=1.228;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.66;ReadPosRankSum=0.561;SOR=1.078	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1216	20	0	1	0
chr14	73259365	73259365	A	G	exonic	PAPLN	.	nonsynonymous SNV	PAPLN:NM_001365907:exon15:c.A1805G:p.H602R	.	.	395	1124	3	0	0	3	0.00133274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.002	B	0.002	B	.	.	1.000	N	1.39	L	0.38	T	-1.018	T	0.100	T	0.053	0.216	5.167	-5.01	-1.268	-0.286	1.095	0.047	0.0122640319476	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1475060248	2.74e-06	3.42e-06	4.089e-06	1.377e-06	0.0003	6.4e-07	4.3e-07	6.103e-05	2.525e-05	0	0	0	0	0	0.0003	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.395	0.11770	T	0.4	0.15355	T	0.001	0.09854	B	0.001	0.06944	B	.	.	.	.	1	0.08975	N	1.3	0.32576	L	0.08	0.61559	T	-1.16	0.29727	N	0.036	0.01498	-1.0176	0.24495	T	0.100	0.37290	T	9	0.06471792	0.08624	T	0.012264	0.30673	T	0.047	0.12962	0.373	0.38503	0.0401082797425	0.02173	0.2807137103014471	0.27984	0.228925084113	0.25452	0.31009888649	0.11922	T	0.008617	0.07902	T	-0.273006	0.11424	T	-0.629931	0.10420	T	0.0261170344462133	0.01421	T	0.324568	0.10046	T	0.031304102	0.02945	0.031668928	0.01790	0.031304102	0.02944	0.031668928	0.01789	-2.919	0.10042	T	.	.	0.070	0.10449	B	.;.;.;.	.;.;.;.	-0.742298	0.01226	0.062	0.14621861030911101	0.00329	0.06183	0.12167	N	AEFDGBI	0.089413	0.18123	N	-1.66916051444573	0.00957	0.0414567	-1.76032882502214	0.00895	0.04001416	0.99998165930435	0.51787	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.31	-5.01	0.02768	-0.140000	0.10323	0.004000	0.13336	-0.832000	0.02862	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3348:0.279:0.2508:0.1354	1.095	0.01569	749	0.51929	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1182.98	33	chr14	73259365	.	A	G	1182.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=0.264;SOR=0.680	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1377	20	0	1	0
chr14	73259407	73259407	C	T	exonic	PAPLN	.	nonsynonymous SNV	PAPLN:NM_001365907:exon15:c.C1847T:p.P616L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.0	B	0.003	B	.	.	1.000	N	1.59	L	0.33	T	-0.971	T	0.168	T	0.061	0.653	7.502	-0.024	-0.258	-0.338	9.014	0.061	0.0161915318238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.84e-07	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.28148	T	0.093	0.39799	T	0.0	0.02946	B	0.002	0.08700	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	0.03	0.62183	T	-3.23	0.65397	D	0.067	0.04188	-0.9714	0.36904	T	0.168	0.50762	T	9	0.07482156	0.11485	T	0.016192	0.37323	T	0.061	0.17616	0.256	0.19689	0.0884992946249	0.08302	0.32467689779245634	0.32380	0.192353595073	0.21563	0.294437974691	0.09574	T	0.015849	0.13217	T	-0.262745	0.12580	T	-0.615192	0.11566	T	0.0557635079005666	0.06484	T	0.654634	0.26482	T	0.04135852	0.06077	0.05821763	0.10720	0.04135852	0.06076	0.05821763	0.10720	-4.354	0.28927	T	.	.	0.070	0.04681	B	.;.;.;.	.;.;.;.	-0.189359	0.03145	0.508	0.62752530586486843	0.07044	0.05672	0.11589	N	AEFDGBI	0.066654	0.13064	N	-1.43851100919599	0.02308	0.1017847	-1.51667286026961	0.02215	0.1015605	0.999666027747423	0.41534	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	2.87	-0.0235	0.13269	-0.690000	0.05240	-0.729000	0.07670	-1.051000	0.01640	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7091:0.0:0.2909	9.014	0.35321	748	0.52143	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	826.98	33	chr14	73259407	.	C	T	826.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.160e-01;DP=791;ExcessHet=0.0000;FS=1.702;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.71;ReadPosRankSum=0.391;SOR=0.887	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1377	20	0	1	0
chr14	73284134	73284134	T	C	exonic	NUMB	.	nonsynonymous SNV	NUMB:NM_001005745:exon9:c.A863G:p.N288S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	1.0	D	0.999	D	0.000	D	1.000	D	1.87	L	1.32	T	-0.460	T	0.340	T	0.203	4.687	25.9	5.26	2.215	7.836	15.340	0.295	0.0420905000671	.	.	0.0002	0	0	0	0	0	0	0.0018	0.0001876	29	154602	rs755961777	0.0001	0.0001	6.262e-05	0.0002	0.0022	0.0001	0.0001	0.0020	0.0019	2.987e-05	0	0	2.519e-05	0	0	3.597e-06	4.967e-05	0.0022	5.256e-05	5.253e-05	3.853e-05	6.726e-05	0.0017	2.557e-05	1.83e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.041	0.43393	D	0.16	0.37449	T	0.999	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.1	0.58353	M	0.33	0.58323	T	-2.95	0.64939	D	0.728	0.81957	-0.4595	0.70084	T	0.340	0.70640	T	10	0.34412116	0.51411	T	0.042091	0.60282	D	0.295	0.61502	0.703	0.83962	0.829019804353	0.82740	0.44823530114897525	0.44741	1.61877923899	0.89039	0.6259136796	0.56566	T	0.80246	0.94978	D	-0.376091	0.03297	T	-0.320269	0.42545	T	0.204057228274395	0.20638	T	0.986301	0.95349	D	0.27812845	0.50868	0.2155412	0.46147	0.27812845	0.50867	0.2155412	0.46146	-5.16	0.38533	T	.	.	0.093	0.22354	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.788878	0.77693	26.8	0.99887213302276423	0.96204	0.97428	0.74687	D	ALL	0.939243	0.93958	D	0.720448691051847	0.80971	7.414577	0.709714134687903	0.83116	7.938188	0.999999999999992	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.648423	0.49468	0	0.733575	0.97253	0	.	.	5.26	5.26	0.73479	7.805000	0.84566	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.340	0.73999	719	0.55657	NUMB domain;NUMB domain;NUMB domain;NUMB domain;NUMB domain;NUMB domain;NUMB domain;NUMB domain;NUMB domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2378.98	38	chr14	73284134	.	T	C	2378.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.41;DP=939;ExcessHet=0.0000;FS=2.298;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=1.39;SOR=0.631	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1095	20	0	1	0
chr14	73522681	73522681	G	A	exonic	HEATR4	.	nonsynonymous SNV	HEATR4:NM_203309:exon2:c.C472T:p.R158W	.	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.001	B	0.0	B	0.518	N	1.000	N	0	N	0.9	T	-1.025	T	0.057	T	0.089	1.632	11.42	0.889	0.142	0.163	5.534	0.018	0.00596567643586	0.0008	0.00139776	0.0013	0	8.64e-05	0.0027	0	0.0005	0	0.0056	0.0011125	172	154602	rs145939433	0.0010	0.0010	0.0008	0.0012	0.0063	0.0010	0.0009	0.0059	0.0057	2.987e-05	6.708e-05	0	0.0036	1.872e-05	0.0009	0.0007	0.0007	0.0063	0.0006	0.0006	0.0005	0.0007	0.0058	0.0005	0.0005	0.0041	0.0036	0.0002	0	6.537e-05	0.0003	0.0015	0	0	0.0007	0.0005	0.0058	0.061	0.37118	T	0.216	0.35205	T	0.001	0.07471	B	0.0	0.01387	B	0.517974	0.05185	N	1.262640	1	0.08975	N	-0.69	0.01958	N	0.9	0.45248	T	-1.46	0.49187	N	0.066	0.04307	-1.0246	0.22214	T	0.057	0.23791	T	10	0.0062227845	0.00140	T	0.005966	0.15549	T	0.018	0.03083	.	.	0.306695030598	0.30287	0.22865694158049005	0.22780	0.11634527342	0.13123	0.174315273762	0.00052	T	0.005674	0.05119	T	-0.654188	0.00068	T	-0.709999	0.05295	T	0.00953288223979754	0.00123	T	0.434357	0.11884	T	0.034963038	0.04025	0.045098748	0.05992	0.034963038	0.04025	0.045098748	0.05992	-4.675	0.33100	T	.	.	0.073	0.06114	B	.;.;.	.;.;.	1.042821	0.14237	10.81	0.89390286589454981	0.18755	0.08523	0.14441	N	AEFI	0.152938	0.27771	N	-1.46860831792126	0.02075	0.09123948	-1.41097599519014	0.03141	0.1459657	0.0706371126631476	0.15535	0.553676	0.25195	0	0.588015	0.36545	0	0.667716	0.60424	0	0.613276	0.41899	0	.	.	6.07	0.889	0.18346	0.153000	0.16140	0.999000	0.23247	-2.839000	0.00176	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1446:0.0:0.459:0.3963	5.534	0.16292	271	0.89373	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1431.98	41	chr14	73522681	.	G	A	1431.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.08;DP=934;ExcessHet=0.0000;FS=0.782;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.23;ReadPosRankSum=0.159;SOR=0.806	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:90,0:90:99:.:.:0,120,1800	20	0	1	0
chr14	73522936	73522936	A	G	exonic	HEATR4	.	nonsynonymous SNV	HEATR4:NM_203309:exon2:c.T217C:p.F73L	.	.	428	1091	3	0	0	3	0.001373	.	.	2461586	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.999	D	0.991	D	0.000	D	0.815	D	1.1	L	2.51	T	-1.012	T	0.066	T	0.621	3.465	17.74	5.6	2.131	5.101	12.181	0.207	0.0207743490663	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1244370547	2.736e-06	2.736e-06	2.722e-06	2.75e-06	0.0005	6.4e-07	4.3e-07	0.0001	7.541e-05	0	0	0	0	0	0.0005	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.991	0.79672	D	0.000010	0.62929	D	0.000000	0.814597	0.34688	D	2.135	0.59519	M	2.51	0.14284	T	-2.25	0.89534	N	0.858	0.85766	-1.0120	0.26291	T	0.066	0.27191	T	10	0.38394624	0.54400	T	0.020774	0.43429	T	0.207	0.49555	0.513	0.61153	0.186928172975	0.18263	0.7018575583135143	0.70126	0.590872984111	0.54534	0.581369519234	0.50278	T	0.127196	0.45406	T	-0.0536535	0.43892	T	-0.314846	0.43137	T	0.950954258441925	0.63451	D	0.725927	0.34027	T	0.46950203	0.65259	0.5279746	0.72728	0.46950203	0.65260	0.5279746	0.72728	-2.53	0.05990	T	.	.	0.962	0.90572	P	.;.;.	.;.;.	4.379887	0.67501	25.1	0.99838985054861062	0.91972	0.88054	0.47817	D	AEFHCI	0.541410	0.55757	D	0.429028360373318	0.63023	4.528469	0.393745157120833	0.61177	4.314392	0.999877796199584	0.44625	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.6	5.6	0.84997	4.691000	0.61424	11.269000	0.91340	0.756000	0.94297	0.997000	0.40164	1.000000	0.68203	0.416000	0.27139	1.0:0.0:0.0:0.0	12.181	0.53522	271	0.89373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2494.98	41	chr14	73522936	.	A	G	2494.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.457e+00;DP=1030;ExcessHet=0.0000;FS=1.873;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.42;ReadPosRankSum=-6.350e-01;SOR=0.564	GT:AD:DP:GQ:PL	0/0:90,0:90:99:0,120,1800	20	0	1	0
chr14	73537506	73537506	G	A	exonic	ACOT1	.	nonsynonymous SNV	ACOT1:NM_001037161:exon1:c.G85A:p.E29K,	.	.	648	868	4	2	0	8	0.00458716	.	.	3226475	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.89	T	0.026	B	0.026	B	0.898	N	1.000	N	1.79	L	-0.43	T	-0.939	T	0.210	T	0.153	-0.531	1.583	0.386	0.178	-0.072	10.151	0.106	.	.	0.00159744	0.0051	0	0.0021	0	0	0.0112	0.0161	0.0002	0.0023027	356	154602	rs199573594	0.0096	0.0083	0.0100	0.0092	0.0112	0.0094	0.0094	0.0110	0.0110	0.0011	0.0062	0.0005	0.0002	0.0011	0.0100	0.0112	0.0099	0.0005	0.0049	0.0049	0.0058	0.0039	0.0089	0.0046	0.0044	0.0082	0.0079	0.0011	0.0049	0.0042	0.0004	0	0.0009	0	0.0089	0.0074	0	0.801	0.03109	T	0.876	0.03259	T	0.026	0.19406	B	0.026	0.20792	B	0.897836	0.07336	N	1.051240	1	0.18612	N	1.7	0.43825	L	-0.43	0.69657	T	-1.8	0.42384	N	0.1	0.18920	-0.9394	0.42711	T	0.210	0.56959	T	10	0.009623647	0.00217	T	.	.	.	0.106	0.30130	.	.	0.630694134536	0.62767	0.40214598987614136	0.40130	.	.	.	.	.	0.016078	0.13357	T	-0.463165	0.00939	T	-0.462708	0.26305	T	0.00552911268839982	0.00060	T	0.706729	0.31713	T	0.14606303	0.33453	0.107366465	0.25846	0.104068615	0.24600	0.107366465	0.25846	-6.493	0.50232	T	.	.	0.112	0.26607	B	.;.	.;.	1.638830	0.20919	14.97	0.95307806750916324	0.26636	0.08050	0.14025	N	AEFDGBHCI	0.100197	0.20152	N	-0.941287422301615	0.09890	0.4700974	-0.949700321708785	0.10929	0.5536961	0.999999713235436	0.74766	0.608746	0.35421	0	0.627608	0.54475	0	0.694767	0.63188	0	0.581474	0.35302	0	.	.	3.65	0.386	0.15477	-0.150000	0.10174	0.928000	0.22757	0.479000	0.22080	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0893:0.5348:0.3759:0.0	10.151	0.41969	260	0.89800	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase;Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.05263	6664.56	34	chr14	73537506	.	G	A	6664.56	.	AC=2;AF=0.053;AN=38;DP=921;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.053;MQ=51.29;QD=30.43;SOR=0.818	GT:AD:DP:GQ:PL	0/0:65,0:65:99:0,120,1800	18	1	0	2
chr14	73595534	73595534	-	A	exonic	ACOT4	.	frameshift insertion	ACOT4:NM_152331:exon3:c.1147dupA:p.I383Nfs*11,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1349009587	1.371e-05	1.436e-05	1.635e-05	1.104e-05	0.0004	8.95e-06	7.28e-06	0.0002	0.0002	0.0004	0	0	0	0	0	0	0.0001	1.16e-05	3.944e-05	3.94e-05	3.855e-05	4.037e-05	0.0001	1.716e-05	1.13e-05	4.74e-05	3.054e-05	0.0001	0	6.547e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1490.94	44	chr14	73595534	.	T	TA	1490.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.252;DP=926;ExcessHet=0.0000;FS=4.483;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.96;ReadPosRankSum=0.574;SOR=0.346	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr14	73595601	73595601	T	G	exonic	ACOT4	.	nonsynonymous SNV	ACOT4:NM_152331:exon3:c.T1213G:p.F405V,	.	.	.	.	.	.	.	.	.	.	.	2684692	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.996	D	0.985	D	0.000	D	1.000	D	3.15	M	-0.23	T	0.279	D	0.554	D	0.938	4.223	21.9	5.74	2.196	7.239	15.698	0.783	0.147164109299	.	.	0.0001	0.0003	8.682e-05	0.0001	0	3.1e-05	0	0.0004	3.84e-05	1	26028	rs751168912	4.179e-05	4.31e-05	3.909e-05	4.458e-05	0.0003	3.291e-05	3.014e-05	0.0002	0.0002	0.0002	2.573e-05	4.225e-05	0	1.918e-05	0	1.936e-05	6.902e-05	0.0003	0.0001	0.0001	0.0001	0.0001	0.0004	7.577e-05	6.282e-05	0.0002	0.0002	0.0004	0	0	0	0	0	0	2.94e-05	0	0.0002	0.001	0.78490	D	0.001	0.83351	D	0.996	0.68779	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.4	0.91674	M	-0.23	0.66652	T	-6.21	0.90411	D	0.903	0.90363	0.279	0.87220	D	0.554	0.83719	D	10	0.95242786	0.94585	D	0.147164	0.82921	D	0.783	0.92787	.	.	0.812901060568	0.81114	0.8469126153224297	0.84652	0.985386728939	0.73877	0.493685394526	0.37950	T	0.150638	0.49020	T	0.138886	0.68219	D	0.27788	0.87006	D	0.917407810688019	0.57523	D	0.707329	0.31793	T	0.877696	0.89479	0.71829736	0.83370	0.877696	0.89480	0.71829736	0.83370	-13.75	0.92216	D	.	.	0.549	0.66760	A	.	.	4.794470	0.77846	26.8	0.9912784416833591	0.53169	0.99512	0.96919	D	AEFGI	0.877638	0.80241	D	0.75959796206848	0.83528	8.041174	0.665963536764014	0.79804	7.160471	0.999999958905449	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.74	5.74	0.90070	7.248000	0.77702	4.604000	0.44009	-0.192000	0.09343	1.000000	0.71638	1.000000	0.68203	0.394000	0.26647	0.0:0.0:0.0:1.0	15.698	0.77274	256	0.89942	BAAT/Acyl-CoA thioester hydrolase C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1307.98	44	chr14	73595601	.	T	G	1307.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.030e-01;DP=869;ExcessHet=0.0000;FS=1.269;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.85;MQRankSum=-7.600e-01;QD=24.22;ReadPosRankSum=-8.790e-01;SOR=0.497	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485	20	0	1	0
chr14	73595602	73595602	T	C	exonic	ACOT4	.	nonsynonymous SNV	ACOT4:NM_152331:exon3:c.T1214C:p.F405S,	.	.	.	.	.	.	.	.	.	.	.	2684693	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.999	D	0.99	D	0.000	D	1.000	D	3.15	M	-0.24	T	0.285	D	0.558	D	0.953	4.232	22.0	5.74	2.196	7.239	15.698	0.804	0.157589331518	.	.	0.0001	0.0003	8.682e-05	0.0001	0	3.101e-05	0	0.0005	9.06e-05	14	154602	rs757062870	4.252e-05	4.446e-05	4.05e-05	4.461e-05	0.0003	3.361e-05	3.024e-05	0.0002	0.0002	0.0002	2.582e-05	4.239e-05	2.568e-05	1.919e-05	0	1.937e-05	6.907e-05	0.0003	0.0001	0.0001	0.0001	0.0001	0.0004	7.577e-05	6.282e-05	0.0002	0.0002	0.0004	0	0	0	0	0	0	2.94e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.4	0.91674	M	-0.24	0.66834	T	-7.19	0.94196	D	0.946	0.95374	0.285	0.87314	D	0.558	0.83864	D	10	0.97123414	0.96731	D	0.157589	0.83814	D	0.804	0.93621	.	.	0.827554761429	0.82592	0.91825982157752	0.91801	1.23396651691	0.81424	0.513931810856	0.40773	T	0.236188	0.60361	T	0.143889	0.68693	D	0.286983	0.87492	D	0.941810786724091	0.61542	D	0.892211	0.62852	D	0.915564	0.92819	0.9133235	0.95925	0.915564	0.92820	0.9133235	0.95925	-12.922	0.89039	D	.	.	0.856	0.80063	P	.	.	5.068600	0.84520	28.3	0.99885228565983386	0.96049	0.99472	0.96450	D	AEFGI	0.905154	0.85633	D	0.770248295502896	0.84217	8.226328	0.678760406730287	0.80769	7.373135	0.999999958905449	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.74	5.74	0.90070	7.248000	0.77702	4.577000	0.43904	-0.192000	0.09343	1.000000	0.71638	1.000000	0.68203	0.403000	0.26849	0.0:0.0:0.0:1.0	15.698	0.77274	256	0.89942	BAAT/Acyl-CoA thioester hydrolase C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1307.98	44	chr14	73595602	.	T	C	1307.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.978e+00;DP=869;ExcessHet=0.0000;FS=1.269;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.85;MQRankSum=-7.600e-01;QD=24.22;ReadPosRankSum=-9.410e-01;SOR=0.497	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485	20	0	1	0
chr14	73619577	73619577	C	G	exonic	ACOT6	.	nonsynonymous SNV	ACOT6:NM_001037162:exon2:c.C362G:p.A121G	.	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.99	D	0.000	D	1.000	D	2.69	M	1.13	T	-0.410	T	0.316	T	0.513	4.231	22.0	5.8	2.739	4.353	20.050	0.428	0.0410599085255	0.0002	.	5.769e-05	0	0	0	0	8.995e-05	0	6.056e-05	5.17e-05	8	154602	rs145374175	5.609e-05	5.609e-05	5.309e-05	5.913e-05	0.0009	4.61e-05	4.236e-05	0.0003	0.0002	0	0.0001	0	0	1.872e-05	0.0009	3.957e-05	4.967e-05	0.0003	3.285e-05	3.283e-05	5.138e-05	1.345e-05	0.0002	1.261e-05	7.98e-06	1.171e-05	6.25e-06	0	0	6.548e-05	0	0	0	0	4.41e-05	0	0.0002	0.002	0.72154	D	0.007	0.74150	D	0.999	0.77913	D	0.99	0.78936	D	0.000009	0.62929	D	0.109686	0.999998	0.58761	D	3.325	0.90780	M	1.13	0.38556	T	-3.87	0.72594	D	0.446	0.48411	-0.4103	0.71701	T	0.316	0.68602	T	10	0.6395057	0.68975	D	0.04106	0.59718	D	0.428	0.73517	.	.	0.242244723065	0.23846	0.5183418060540937	0.51757	0.894400696875	0.70370	0.52785551548	0.42733	T	0.081243	0.36552	T	-0.217267	0.18368	T	-0.280566	0.46746	T	0.913757860660553	0.57014	D	0.949705	0.81505	D	0.5938068	0.72357	0.60824597	0.77219	0.5938068	0.72358	0.60824597	0.77220	.	.	.	.	.	0.182	0.39477	B	.;.;.	.;.;.	4.067136	0.60402	24.2	0.99792226322054978	0.87750	0.97914	0.78085	D	AEFBI	0.750966	0.69192	D	0.796399440117333	0.85879	8.710257	0.756987545388632	0.86677	8.966867	0.999221385463852	0.38808	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.8	5.8	0.92081	3.026000	0.49373	4.859000	0.45451	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.540000	0.29938	0.0:1.0:0.0:0.0	20.050	0.97625	274	0.89249	BAAT/Acyl-CoA thioester hydrolase C-terminal;BAAT/Acyl-CoA thioester hydrolase C-terminal;BAAT/Acyl-CoA thioester hydrolase C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1566.98	34	chr14	73619577	.	C	G	1566.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.407e+00;DP=841;ExcessHet=0.0000;FS=0.686;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.28;ReadPosRankSum=0.351;SOR=0.790	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr14	73898116	73898116	C	G	exonic	ZNF410	.	nonsynonymous SNV	ZNF410:NM_001242927:exon4:c.C215G:p.A72G	.	.	430	1091	1	0	0	1	0.000458085	.	.	2207414	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.25	T	0.759	P	0.201	B	0.041	N	1.000	D	0.55	N	2.95	T	-0.972	T	0.018	T	0.298	2.752	15.16	4.93	2.565	1.408	13.719	0.030	0.00340861936343	.	0.000199681	4.942e-05	0	0	0	0	5.994e-05	0.0011	6.056e-05	4.53e-05	7	154602	rs559946770	2.326e-05	2.326e-05	1.77e-05	2.888e-05	0.0003	1.674e-05	1.477e-05	6.092e-05	2.521e-05	0	2.236e-05	0.0003	0	0	0.0003	1.439e-05	9.934e-05	1.159e-05	5.256e-05	5.251e-05	7.713e-05	2.688e-05	0.0003	2.557e-05	1.83e-05	8.877e-05	5.386e-05	0	0	0.0003	0.0009	0	0	0	0	0.0005	0	0.009	0.72154	D	0.272	0.65728	T	0.718	0.43487	P	0.201	0.36881	B	0.041290	0.23965	N	0.204155	0.757127	0.81001	D	1.845	0.48678	L	2.9	0.10101	T	-0.37	0.33798	N	0.115	0.14054	-0.9715	0.36883	T	0.018	0.07565	T	10	0.06253046	0.08009	T	0.003409	0.07664	T	0.030	0.07022	0.361	0.36548	0.151262610727	0.14761	0.16546765482836018	0.16466	0.48109839602	0.47113	0.614429593086	0.54941	T	0.086646	0.37769	T	-0.286634	0.09976	T	-0.47366	0.25124	T	0.0676732875568864	0.08321	T	0.922708	0.71908	D	0.17253917	0.37951	0.18852623	0.42148	0.17253917	0.37951	0.18852623	0.42147	-3.203	0.12591	T	.	.	0.169	0.40968	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.019529	0.40410	21.2	0.99431202300226074	0.64276	0.93809	0.59253	D	AEFGBI	0.437126	0.49706	N	0.0422582176789977	0.43786	2.664861	0.180548641302183	0.48780	3.089557	0.999123778748938	0.38507	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.93	4.93	0.64394	1.503000	0.35323	4.756000	0.44687	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9233:0.0:0.0767	13.719	0.62194	358	0.85037	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	490.98	36	chr14	73898116	.	C	G	490.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.078e+00;DP=761;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.47;ReadPosRankSum=0.771;SOR=0.606	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1153	20	0	1	0
chr14	73922107	73922107	G	A	exonic	ZNF410	.	nonsynonymous SNV	ZNF410:NM_001242927:exon9:c.G952A:p.V318I	.	.	437	1073	12	0	0	12	0.0055607	.	.	2372504	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.984	D	0.956	D	0.001	N	1.000	D	0	N	3.07	T	-1.022	T	0.040	T	0.366	2.452	14.16	5.3	2.753	4.071	16.901	0.067	0.00624117687877	7.7e-05	0.000399361	0.0002	0	0	0	0	0.0001	0	0.0011	0.0001876	29	154602	rs372664039	0.0002	0.0002	0.0002	0.0002	0.0035	0.0002	0.0002	0.0023	0.0019	0	0.0001	0	0	0	0.0035	0.0001	0.0004	0.0014	0.0002	0.0002	0.0002	0.0001	0.0008	0.0001	0.0001	0.0003	0.0002	2.406e-05	0	0.0005	0	0	0	0	0.0002	0.0009	0.0008	0.118	0.91255	T	0.306	0.92824	T	0.643	0.40492	P	0.785	0.57495	P	0.001442	0.38980	N	0.000000	0.546559	0.81001	D	1.01	0.25309	L	3.02	0.09356	T	-0.4	0.25118	N	0.538	0.56576	-1.0215	0.23227	T	0.040	0.17063	T	10	0.03307873	0.01474	T	0.006241	0.16376	T	0.136	0.36778	.	.	0.15499578495	0.15088	0.142841941602386	0.14207	0.800589739096	0.66227	0.560118496418	0.47284	T	0.026612	0.19659	T	-0.407052	0.02080	T	-0.40303	0.33033	T	0.088879943355341	0.11084	T	0.89921	0.67274	D	0.055328384	0.10739	0.0646716	0.12995	0.055328384	0.10738	0.0646716	0.12995	-4.042	0.26185	T	.	.	0.096	0.16451	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.136392	0.42404	21.5	0.952429301120164	0.26489	0.89806	0.50512	D	AEFBI	0.495532	0.53086	N	0.436454677190312	0.63439	4.577605	0.514922159546573	0.68994	5.297341	0.999996727823021	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.3	5.3	0.74745	4.579000	0.60647	10.022000	0.83139	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.901	0.85982	359	0.84979	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1063.98	35	chr14	73922107	.	G	A	1063.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.532e+00;DP=754;ExcessHet=0.0000;FS=4.117;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=0.646;SOR=0.464	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1063	20	0	1	0
chr14	73944787	73944787	T	C	exonic	FAM161B	.	nonsynonymous SNV	FAM161B:NM_152445:exon3:c.A473G:p.Q158R,	.	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.001	B	0.001	B	0.006	N	0.994	N	1.59	L	1.59	T	-1.054	T	0.038	T	0.125	0.586	7.163	1.41	0.432	0.549	5.184	0.042	0.00441601301351	0.0032	0.00239617	0.0009	0.0097	8.876e-05	0	0	1.579e-05	0	0	0.0007438	115	154602	rs114761543	0.0003	0.0003	0.0004	0.0003	0.0111	0.0003	0.0003	0.0101	0.0098	0.0111	0.0003	0	0	0	0.0009	2.738e-06	0.0009	2.431e-05	0.0031	0.0031	0.0033	0.0030	0.0110	0.0029	0.0028	0.0102	0.0099	0.0110	0	0.0010	0	0	0	0	1.47e-05	0.0024	0	0.138	0.25873	T	0.248	0.23845	T	.	.	.	.	.	.	0.005506	0.32736	N	0.145433	0.993879	0.23631	N	.	.	.	1.59	0.28836	T	-0.49	0.15578	N	0.126	0.11912	-1.0541	0.13278	T	0.038	0.16548	T	10	0.00389269	0.00074	T	0.004416	0.10781	T	0.042	0.11227	.	.	0.0482279557977	0.04254	.	.	0.071680334375	0.08030	0.279273360968	0.07391	T	.	.	.	-0.610143	0.00126	T	-0.638816	0.09756	T	0.0082229762841218	0.00098	T	0.506949	0.16072	T	.	.	.	.	.	.	.	.	-1.614	0.02014	T	.	.	.	.	.	.	.	1.604513	0.20508	14.78	0.85028727591010811	0.15642	0.55830	0.29963	D	AEFDBCI	0.079791	0.16121	N	-0.667365206609092	0.16956	0.868448	-0.587900758026447	0.19807	1.064432	0.999929217620763	0.46280	0.562547	0.31514	0	0.588066	0.40923	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.1	1.41	0.21461	0.881000	0.27811	-0.193000	0.11018	-0.120000	0.14102	1.000000	0.71638	0.003000	0.18671	0.097000	0.18139	0.0:0.272:0.1608:0.5672	5.184	0.14500	410	0.82135	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1081.98	35	chr14	73944787	.	T	C	1081.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.894e+00;DP=795;ExcessHet=0.0000;FS=2.785;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=0.463;SOR=0.418	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1377	20	0	1	0
chr14	73944869	73944869	G	A	exonic	FAM161B	.	nonsynonymous SNV	FAM161B:NM_152445:exon3:c.C391T:p.R131C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.981	D	0.050	N	0.963	D	1.59	L	1.46	T	-0.958	T	0.097	T	0.402	3.340	17.24	4.02	1.437	1.968	8.102	0.092	0.0157268311284	0.0030	0.00199681	0.0009	0.0089	9.69e-05	0	0	5.128e-05	0	0	0.0006727	104	154602	rs143308491	0.0003	0.0003	0.0004	0.0003	0.0090	0.0003	0.0003	0.0081	0.0078	0.0090	0.0003	0	0	0	0.0010	0.0001	0.0008	1.399e-05	0.0027	0.0027	0.0028	0.0026	0.0093	0.0025	0.0024	0.0085	0.0082	0.0093	0	0.0008	0	0.0002	0	0	0.0001	0.0024	0	0.023	0.48186	D	0.003	0.76473	D	.	.	.	.	.	.	0.050225	0.23090	N	0.393919	0.962644	0.38302	D	.	.	.	1.46	0.32238	T	-2.24	0.50175	N	0.469	0.50508	-0.9579	0.39571	T	0.097	0.36471	T	10	0.009785891	0.00220	T	0.015727	0.36624	T	0.092	0.26621	.	.	0.380730819819	0.37686	.	.	0.1285214489	0.14489	0.302573889494	0.10785	T	.	.	.	-0.438528	0.01319	T	-0.39473	0.33999	T	0.0297409505613066	0.01950	T	0.782822	0.41925	T	.	.	.	.	.	.	.	.	-4.865	0.35339	T	.	.	.	.	.	.	.	4.545409	0.71481	25.7	0.99915981551328958	0.98379	0.86388	0.45658	D	AEFDBCI	0.253825	0.37326	N	0.479516045303702	0.65894	4.880376	0.442522366356442	0.64238	4.674461	0.999992278330976	0.74766	0.562547	0.31514	0	0.588066	0.40923	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	4.91	4.02	0.45968	2.794000	0.47545	4.870000	0.45558	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0808:0.0:0.7633:0.1558	8.102	0.30022	410	0.82135	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	524.98	33	chr14	73944869	.	G	A	524.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.00;DP=745;ExcessHet=0.0000;FS=1.379;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=1.01;SOR=1.189	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1377	20	0	1	0
chr14	73946602	73946602	A	G	exonic	FAM161B	.	nonsynonymous SNV	FAM161B:NM_152445:exon2:c.T58C:p.F20L,	.	.	432	1088	2	0	0	2	0.000918274	.	.	2337121	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.78	P	0.265	B	0.094	N	1.000	N	1.7	L	1.53	T	-1.004	T	0.067	T	0.53	1.932	12.42	3.9	2.137	2.154	9.034	0.155	0.00915731904087	7.7e-05	.	0.0001	0	0	0	0	0.0001	0	0.0003	9.06e-05	14	154602	rs200537390	4.524e-05	4.515e-05	3.544e-05	5.514e-05	0.0005	3.648e-05	3.328e-05	0.0002	0.0002	0	0	0	0	0	0.0005	2.523e-05	0.0001	0.0003	3.942e-05	3.94e-05	2.569e-05	5.38e-05	0.0006	1.715e-05	1.129e-05	0.0002	8.989e-05	0	0	0	0	0	0	0	4.409e-05	0	0.0006	0.007	0.59928	D	0.0	0.92824	D	.	.	.	.	.	.	0.093581	0.20216	N	0.435717	1	0.08975	N	.	.	.	1.53	0.30401	T	-1.1	0.28497	N	0.28	0.31702	-1.0035	0.28903	T	0.067	0.27708	T	10	0.09653002	0.17322	T	0.009157	0.24083	T	0.155	0.40530	.	.	0.124217242631	0.12060	.	.	0.0819361189271	0.09225	0.595755815506	0.52305	T	.	.	.	-0.31989	0.06906	T	-0.386758	0.34931	T	0.074850592481707	0.09315	T	0.560744	0.19617	T	.	.	.	.	.	.	.	.	-2.156	0.03832	T	.	.	.	.	.	.	.	2.286705	0.29245	18.06	0.98853715880360249	0.47339	0.47622	0.28024	N	AEFDBCI	0.232601	0.35565	N	-0.0573335746698105	0.39275	2.31348	-0.109088406178637	0.35023	2.021334	0.999993429337024	0.74766	0.615465	0.37627	0	0.541556	0.11502	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.1	3.9	0.44240	2.129000	0.41677	4.681000	0.44321	0.756000	0.94297	0.974000	0.34632	0.999000	0.35428	0.014000	0.10232	0.8153:0.1847:0.0:0.0	9.034	0.35440	412	0.82007	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	769.98	64	chr14	73946602	.	A	G	769.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.918e+00;DP=800;ExcessHet=0.0000;FS=0.981;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=0.592;SOR=0.520	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,115,1253	20	0	1	0
chr14	73950477	73950477	G	T	exonic	COQ6	.	nonsynonymous SNV	COQ6:NM_182476:exon1:c.G145T:p.A49S,	Coenzyme Q10 deficiency, primary, 6, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	211679	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.17	T	0.942	P	0.674	P	0.000	D	1.000	D	0.955	L	0.88	T	-1.084	T	0.051	T	0.287	5.279	33	5.01	2.615	5.939	18.570	0.123	.	0.0084	0.0071885	0.0029	0.0316	0.0015	0	0	6.953e-05	0	0	0.0020892	323	154602	rs61743884	0.0008	0.0008	0.0009	0.0007	0.0287	0.0008	0.0008	0.0272	0.0266	0.0287	0.0012	0	0	0	0.0015	7.836e-05	0.0016	4.695e-05	0.0075	0.0075	0.0080	0.0070	0.0261	0.0071	0.0070	0.0248	0.0243	0.0261	0	0.0025	0	0	0	0	0.0001	0.0047	0	0.151	0.32610	T	0.287	0.27679	T	0.942	0.52977	P	0.638	0.52030	P	0.000000	0.84330	D	0.050026	1	0.81001	D	1.765	0.45800	L	0.88	0.46028	T	-1.21	0.40468	N	0.618	0.65587	-1.0843	0.06535	T	0.051	0.21767	T	10	0.009027332	0.00204	T	.	.	.	0.123	0.34020	.	.	0.40032279838	0.39643	0.6771371330353263	0.67652	0.495590999531	0.48094	0.554670453072	0.46515	T	0.161637	0.50597	T	-0.451068	0.01113	T	-0.399754	0.33412	T	0.0615513612225333	0.07411	T	0.918208	0.70605	D	0.29572505	0.52518	0.44345033	0.67561	0.35614502	0.57541	0.41237625	0.65442	-6.428	0.49728	T	0.2405651125944539	0.32585	0.169	0.40730	B	.;.	.;.	4.720386	0.75923	26.4	0.99753920468575874	0.84460	0.87322	0.46826	D	ALL	0.832310	0.75071	D	0.483756489115404	0.66142	4.911925	0.539311901297496	0.70657	5.537527	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.01	5.01	0.66477	6.176000	0.71885	9.715000	0.81346	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	18.570	0.91085	415	0.81806	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1678.98	36	chr14	73950477	.	G	T	1678.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.654e+00;DP=919;ExcessHet=0.0000;FS=2.119;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.91;ReadPosRankSum=-3.500e-02;SOR=0.858	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1258	20	0	1	0
chr14	74290035	74290035	G	A	exonic	ABCD4	.	nonsynonymous SNV	ABCD4:NM_001353604:exon10:c.C622T:p.R208W	Methylmalonic aciduria and homocystinuria, cblJ type, Autosomal recessive	.	0	1515	7	0	0	7	0.00230491	.	.	373897	Methylmalonic_acidemia_with_homocystinuria,_type_cblJ|not_provided	MONDO:MONDO:0013925,MedGen:C3553915,OMIM:614857,Orphanet:369955|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.999	D	0.982	D	0.000	D	1.000	D	2.635	M	-3.47	D	1.000	D	0.907	D	0.889	4.459	23.8	5.76	2.728	2.946	14.758	0.890	0.193410581935	0.0012	0.00139776	0.0017	0.0007	0.0024	0	0.0014	0.0021	0.0022	0.0010	0.0017205	266	154602	rs45568335	0.0019	0.0019	0.0020	0.0019	0.0071	0.0019	0.0019	0.0054	0.0048	0.0006	0.0016	0.0024	0	0.0008	0.0071	0.0022	0.0017	0.0008	0.0016	0.0016	0.0015	0.0017	0.0026	0.0015	0.0014	0.0020	0.0019	0.0007	0	0.0026	0.0026	0	0.0007	0	0.0023	0.0028	0.0010	0.002	0.72154	D	0.002	0.79402	D	0.998	0.73220	D	0.954	0.69447	D	0.000001	0.62929	D	0.055789	1	0.81001	D	2.845	0.82663	M	-3.47	0.94546	D	-5.47	0.85617	D	0.965	0.97535	1.000	0.97196	D	0.907	0.96912	D	10	0.19610003	0.35488	T	0.193411	0.86302	D	0.890	0.96836	.	.	0.9939230384	0.99385	0.930420801775516	0.93021	0.899938450142	0.70603	0.841408610344	0.88309	D	0.618414	0.88005	D	0.143536	0.68660	D	0.428477	0.93001	D	0.0396660110126401	0.03630	T	0.937606	0.76517	D	0.7190192	0.79107	0.63535464	0.78713	0.7190192	0.79108	0.63535464	0.78714	-11.764	0.83682	D	.	.	0.652	0.71014	P	.	.	5.983850	0.94259	34	0.99918734954961996	0.98586	0.92838	0.56669	D	AEFBCI	0.781768	0.71325	D	0.738243510302671	0.82136	7.689078	0.712105214964422	0.83298	7.985194	0.999999747318183	0.74766	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.76	5.76	0.90726	3.030000	0.49407	11.495000	0.92942	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.8555:0.1445	14.758	0.69203	495	0.76383	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1506.98	96	chr14	74290035	.	G	A	1506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.050e-01;DP=836;ExcessHet=0.0000;FS=2.834;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.70;ReadPosRankSum=0.655;SOR=0.412	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1205	20	0	1	0
chr14	74300166	74300166	C	G	exonic	ABCD4	.	nonsynonymous SNV	ABCD4:NM_001353591:exon2:c.G141C:p.L47F	Methylmalonic aciduria and homocystinuria, cblJ type, Autosomal recessive	.	1	1496	25	0	0	25	0.00828638	.	.	360112	Methylmalonic_acidemia_with_homocystinuria,_type_cblJ|Inborn_genetic_diseases|not_specified	MONDO:MONDO:0013925,MedGen:C3553915,OMIM:614857,Orphanet:369955|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.09	T	0.998	D	0.981	D	0.001	N	1.000	D	1.76	L	-3.64	D	0.570	D	0.823	D	0.649	2.968	15.90	1.93	1.210	-0.027	4.103	0.635	0.14285732486	0.0005	0.000998403	0.0006	9.641e-05	0.0002	0	0.0002	0.0008	0.0011	0.0012	0.0006209	96	154602	rs147446660	0.0005	0.0005	0.0004	0.0006	0.0086	0.0004	0.0004	0.0067	0.0060	0.0001	0.0002	0.0011	0	5.63e-05	0.0086	0.0003	0.0009	0.0021	0.0005	0.0005	0.0006	0.0004	0.0036	0.0004	0.0004	0.0023	0.0019	2.434e-05	0	0.0005	0.0009	0	0	0	0.0006	0.0024	0.0036	0.006	0.63226	D	0.008	0.67890	D	0.998	0.73220	D	0.981	0.75168	D	0.001193	0.39899	N	0.158012	0.997388	0.81001	D	1.73	0.44655	L	-3.64	0.95145	D	-3.0	0.67359	D	0.494	0.53445	0.570	0.91502	D	0.823	0.94044	D	10	0.035323203	0.01776	T	0.142857	0.82522	D	0.635	0.86027	0.66	0.79791	0.995713155787	0.99566	0.5605388446041493	0.55980	0.9082949663	0.70941	0.489047825336	0.37306	T	0.425643	0.93589	T	-0.103828	0.35792	T	0.0708179	0.74965	D	0.0762226017790259	0.09497	T	0.928807	0.73996	D	0.13454422	0.31257	0.12691249	0.30558	0.13454422	0.31257	0.12691249	0.30558	-4.619	0.32410	T	.	.	0.224	0.54116	B	.;.	.;.	3.304116	0.45370	22.1	0.99840903234902278	0.92143	0.11387	0.16600	N	AEFDBI	0.146883	0.27044	N	0.156077679935425	0.49100	3.114218	0.0409763992360276	0.41638	2.504903	0.992237264324619	0.32767	0.744818	0.98587	0	0.732433	0.95613	0	0.643519	0.47002	0	0.635259	0.50027	0	.	.	5.29	1.93	0.24985	-0.017000	0.12529	0.268000	0.16624	0.596000	0.33519	0.003000	0.16062	0.983000	0.30585	0.981000	0.58702	0.2631:0.4709:0.1867:0.0792	4.103	0.09493	445	0.79730	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	642.98	40	chr14	74300166	.	C	G	642.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.100e-01;DP=819;ExcessHet=0.0000;FS=0.997;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=0.560;SOR=0.551	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,99,1340	20	0	1	0
chr14	74356998	74356998	G	A	exonic	VRTN	.	nonsynonymous SNV	VRTN:NM_018228:exon2:c.G215A:p.R72Q,	.	.	426	1077	19	0	0	19	0.00874367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.033	B	0.003	B	0.223	N	1.000	N	0.345	N	0.95	T	-1.049	T	0.042	T	0.193	1.363	10.48	1.82	0.647	0.423	9.583	0.018	0.00777356287819	0.0015	0.00139776	0.0022	0.0004	0.0029	0	0.0015	0.0022	0.0022	0.0043	0.0021216	328	154602	rs45593432	0.0024	0.0024	0.0023	0.0024	0.0110	0.0023	0.0023	0.0088	0.0080	0.0004	0.0023	0.0017	0	0.0011	0.0110	0.0025	0.0022	0.0037	0.0020	0.0020	0.0018	0.0022	0.0037	0.0018	0.0018	0.0024	0.0023	0.0006	0	0.0031	0.0026	0	0.0010	0.0034	0.0027	0.0038	0.0037	0.139	0.25768	T	0.171	0.30339	T	0.033	0.20350	B	0.003	0.08700	B	0.222855	0.16098	N	0.565703	1	0.08975	N	0.345	0.11182	N	0.93	0.44065	T	-1.66	0.39692	N	0.081	0.05670	-1.0490	0.14677	T	0.042	0.17910	T	10	0.006282538	0.00142	T	0.007774	0.20616	T	0.018	0.03083	.	.	0.043077524339	0.03247	0.4145049700076509	0.41366	0.508805914632	0.49028	0.281761646271	0.07739	T	0.030668	0.21687	T	-0.558419	0.00259	T	-0.57464	0.15027	T	0.00794116350985431	0.00094	T	0.778122	0.45098	T	0.07385919	0.16535	0.04743518	0.06833	0.07385919	0.16535	0.04743518	0.06833	-4.319	0.28442	T	.	.	0.068	0.02639	B	.;.	.;.	1.297111	0.16988	12.89	0.99395072349976021	0.62519	0.17632	0.19921	N	AEFDBCI	0.119875	0.23378	N	-0.649216657548677	0.17483	0.9000355	-0.551358041754906	0.20770	1.120566	0.974554831129864	0.29553	0.645754	0.44609	0	0.59043	0.45803	0	0.696144	0.63334	0	0.542086	0.14980	0	.	.	4.91	1.82	0.24209	0.452000	0.21508	0.449000	0.18503	0.676000	0.76740	0.115000	0.23085	0.005000	0.19230	0.511000	0.29267	0.2597:0.0:0.7403:0.0	9.583	0.38662	269	0.89438	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2564.11	90	chr14	74356998	.	G	A	2564.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.78;DP=1015;ExcessHet=0.1072;FS=2.435;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=2.08;SOR=0.534	GT:AD:DP:GQ:PL	0/1:75,54:129:99:1426,0,1854	19	0	2	0
chr14	74358236	74358236	A	G	exonic	VRTN	.	nonsynonymous SNV	VRTN:NM_018228:exon2:c.A1453G:p.N485D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.0	B	0.0	B	0.047	U	1.000	N	0	N	0.98	T	-1.042	T	0.046	T	0.022	1.734	11.76	-0.76	-0.044	0.130	7.147	0.082	0.0033985678896	0.0006	0.000798722	0.0002	0.0025	8.67e-05	0	0	0	0	0	0.000194	30	154602	rs113674861	9.451e-05	9.508e-05	0.0001	6.885e-05	0.0030	8.143e-05	7.659e-05	0.0025	0.0023	0.0030	0.0002	0	0	0	0	0	0.0005	1.16e-05	0.0007	0.0007	0.0008	0.0006	0.0026	0.0006	0.0006	0.0022	0.0020	0.0026	0	0.0002	0	0	0	0	0	0.0014	0	0.098	0.30800	T	0.051	0.47828	T	0.0	0.02946	B	0.0	0.01387	B	0.046831	0.23401	U	0.382752	1	0.08975	N	0	0.06538	N	0.98	0.42122	T	-0.26	0.11185	N	0.074	0.04790	-1.0420	0.16711	T	0.046	0.19760	T	10	0.0047881603	0.00101	T	0.003399	0.07633	T	0.082	0.23913	.	.	0.110392049598	0.10638	0.18069673887857454	0.17988	0.49452677245	0.48011	0.341589361429	0.16676	T	0.018585	0.14954	T	-0.669168	0.00056	T	-0.738916	0.03936	T	0.00452570824809543	0.00048	T	0.291871	0.05342	T	0.18270437	0.39502	0.076556616	0.16967	0.18270437	0.39502	0.076556616	0.16966	-1.803	0.02518	T	.	.	0.075	0.05623	B	.	.	0.022987	0.04442	1.170	0.96586338991899512	0.30351	0.03806	0.09138	N	AEFDBCI	0.032001	0.03531	N	-1.11455551327828	0.06383	0.2936866	-1.1426947631258	0.06900	0.3337225	0.999950452449774	0.48110	0.722319	0.85440	0	0.59043	0.45803	0	0.698795	0.65105	0	0.542086	0.14980	0	.	.	4.29	-0.76	0.10485	0.044000	0.13876	3.166000	0.36590	0.691000	0.84096	0.004000	0.16614	0.990000	0.31317	0.005000	0.06747	0.4957:0.0:0.5043:0.0	7.147	0.24764	269	0.89438	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1215.98	78	chr14	74358236	.	A	G	1215.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.020e-01;DP=917;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.31;ReadPosRankSum=-7.340e-01;SOR=0.729	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr14	74358253	74358253	C	A	exonic	VRTN	.	nonsynonymous SNV	VRTN:NM_018228:exon2:c.C1470A:p.D490E,	.	.	419	1038	61	4	0	69	0.0321678	.	.	714232	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.156	N	1.000	N	0	N	1.02	T	-0.997	T	0.020	T	0.006	-3.049	0.001	-6.98	-1.897	-2.987	3.018	0.031	.	0.0028	0.00579073	0.0075	0.0009	0.0057	0.0001	0.0005	0.0060	0.0172	0.0245	0.0063324	979	154602	rs45500395	0.0053	0.0053	0.0045	0.0061	0.0380	0.0052	0.0052	0.0339	0.0323	0.0017	0.0054	0.0246	7.57e-05	0.0005	0.0380	0.0036	0.0069	0.0248	0.0044	0.0044	0.0040	0.0047	0.0251	0.0041	0.0040	0.0214	0.0201	0.0009	0	0.0056	0.0239	0.0002	0.0003	0.0272	0.0045	0.0095	0.0251	0.913	0.02349	T	0.46	0.12597	T	0.0	0.02946	B	0.0	0.01387	B	0.155817	0.17819	N	0.521574	1	0.08975	N	0.55	0.14455	N	1.02	0.40749	T	0.37	0.03639	N	0.017	0.00226	-0.9971	0.30728	T	0.020	0.08500	T	10	0.002757728	0.00043	T	.	.	.	0.031	0.07369	0.093	0.01151	0.043077524339	0.03247	0.20745129742837223	0.20661	0.40891498354	0.41719	0.289120614529	0.08794	T	0.010456	0.09443	T	-0.727529	0.00025	T	-0.798897	0.01930	T	0.00100007721668825	0.00010	T	0.194281	0.02108	T	0.08663903	0.20147	0.026262786	0.00706	0.08663903	0.20146	0.026262786	0.00706	-2.211	0.04094	T	.	.	0.093	0.13876	B	.	.	-2.672347	0.00021	0.001	0.21223961864604715	0.00799	0.04030	0.09467	N	AEFDBCI	0.036499	0.04872	N	-2.07478394950839	0.00145	0.00622438	-2.132926700732	0.00158	0.006943154	0.999999953199564	0.74766	0.722319	0.85440	0	0.59043	0.45803	0	0.698795	0.65105	0	0.542086	0.14980	0	.	.	3.89	-6.98	0.01454	-3.080000	0.00676	-4.396000	0.02178	-0.979000	0.01905	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2059:0.4317:0.1323:0.2301	3.018	0.05698	269	0.89438	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	4734.68	78	chr14	74358253	.	C	A	4734.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.82;DP=974;ExcessHet=0.3300;FS=4.375;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=14.57;ReadPosRankSum=0.449;SOR=0.941	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	3	0
chr14	74508039	74508039	C	T	exonic	LTBP2	.	nonsynonymous SNV	LTBP2:NM_000428:exon25:c.G3709A:p.E1237K,	Glaucoma 3, primary congenital, D;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Autosomal recessive;Weill-Marchesani syndrome 3, recessive, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	872591	not_provided|Glaucoma_3,_primary_congenital,_D|Weill-Marchesani_syndrome	MedGen:C3661900|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086,Orphanet:98976|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600,Orphanet:3449	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.81	T	0.989	D	0.717	P	0.015	N	0.992	D	1.1	L	-2.25	D	0.214	D	0.687	D	0.327	4.508	24.2	4.52	1.526	4.472	14.219	0.475	0.0744098239558	.	.	3.321e-05	9.728e-05	0	0	0	3.022e-05	0	6.085e-05	2.59e-05	4	154602	rs769155905	3.695e-05	3.762e-05	4.357e-05	3.026e-05	0.0002	2.894e-05	2.593e-05	2.828e-05	2.507e-05	0	0	0.0003	0	0	0.0002	3.777e-05	3.312e-05	2.319e-05	4.598e-05	4.596e-05	6.422e-05	2.689e-05	7.235e-05	2.109e-05	1.526e-05	1.972e-05	1.124e-05	7.235e-05	0	0	0	0	0	0	5.879e-05	0	0	0.046	0.40573	D	0.107	0.40426	T	0.989	0.62824	D	0.717	0.54739	P	0.015425	0.28249	N	0.164615	0.991679	0.41446	D	1.2	0.30300	L	-2.95	0.91903	D	-2.13	0.53258	N	0.442	0.48042	0.214	0.86147	D	0.687	0.89195	D	10	0.35173243	0.52017	T	0.07441	0.72034	D	0.475	0.76751	0.583	0.70990	0.822846821746	0.82117	0.4565086907759105	0.45568	0.457133581245	0.45357	0.500999808311	0.38968	T	0.456103	0.79500	T	-0.0637027	0.42327	T	-0.126627	0.61254	T	0.528910338878632	0.33694	D	0.929907	0.74113	D	0.18138279	0.39305	0.17138846	0.39317	0.18138279	0.39305	0.17138846	0.39317	-10.081	0.74395	D	.	.	0.085	0.10208	B	.;.	.;.	5.030268	0.83658	28.1	0.9991508308786764	0.98309	0.97123	0.72824	D	AEFDGBIJ	0.575440	0.57783	D	0.181302807755818	0.50301	3.22148	0.205805526192405	0.50170	3.211842	0.999999932479654	0.74766	0.67177	0.52595	0	0.588066	0.40923	0	0.527494	0.11647	0	0.711	0.71501	0	.	.	5.41	4.52	0.54797	4.696000	0.61460	5.852000	0.50347	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.805000	0.37950	0.0:0.9289:0.0:0.0711	14.219	0.65353	259	0.89842	EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	822.98	36	chr14	74508039	.	C	T	822.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.431e+00;DP=768;ExcessHet=0.0000;FS=0.822;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.92;ReadPosRankSum=0.803;SOR=0.584	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr14	74522792	74522792	G	T	exonic	LTBP2	.	nonsynonymous SNV	LTBP2:NM_000428:exon16:c.C2657A:p.T886K,	Glaucoma 3, primary congenital, D;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Autosomal recessive;Weill-Marchesani syndrome 3, recessive, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	0.0005	0.13	330544	Weill-Marchesani_syndrome|not_provided|Glaucoma_3,_primary_congenital,_D	MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600,Orphanet:3449|MedGen:C3661900|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086,Orphanet:98976	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.73	T	0.99	D	0.856	P	0.001	D	0.836	N	1.04	L	-2.24	D	-0.325	T	0.534	D	0.397	1.997	12.63	2.88	1.233	1.439	6.997	0.424	0.279226258854	0.0002	0.000798722	0.0007	0	0	0.0033	0.0017	0.0003	0	0.0014	0.0004981	77	154602	rs201591982	0.0003	0.0003	0.0002	0.0003	0.0031	0.0002	0.0002	0.0026	0.0024	0	2.251e-05	0.0003	0.0031	0.0015	0.0003	7.473e-05	0.0003	0.0010	0.0003	0.0003	0.0002	0.0004	0.0029	0.0002	0.0002	0.0018	0.0014	0	0	0	0	0.0029	0.0012	0	0.0001	0.0009	0.0002	0.03	0.52492	D	0.047	0.51421	D	0.99	0.63424	D	0.856	0.61001	P	0.000586	0.43095	D	0.000000	0.836101	0.28694	N	2.67	0.78151	M	-2.24	0.87194	D	-2.54	0.55025	D	0.458	0.52029	-0.3246	0.74293	T	0.534	0.82723	D	10	0.03479466	0.01701	T	0.279226	0.90170	D	0.424	0.73226	.	.	0.786729234469	0.78475	0.6533797712812953	0.65273	0.274175235635	0.29914	0.357838898897	0.19069	T	0.649466	0.89345	D	-0.249031	0.14216	T	-0.13417	0.60620	T	0.0894411780022124	0.11151	T	0.814119	0.46793	T	0.10528326	0.24892	0.13597353	0.32540	0.096389316	0.22701	0.12062933	0.29109	-9.822	0.72839	D	.	.	0.153	0.36673	B	.;.	.;.	2.676178	0.34902	19.75	0.98323305867597255	0.40261	0.82143	0.41416	D	AEFGBI	0.231894	0.35505	N	-0.178824538756587	0.34018	1.93664	-0.228493056473406	0.30520	1.719115	0.99933199887213	0.39185	0.67177	0.52595	0	0.59043	0.45803	0	0.547309	0.15389	0	0.711	0.71501	0	.	.	4.75	2.88	0.32617	2.460000	0.44689	2.835000	0.35045	-0.113000	0.14837	0.989000	0.36753	0.999000	0.35428	0.117000	0.19042	0.2749:0.0:0.7251:0.0	6.997	0.23965	258	0.89879	EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1152.98	96	chr14	74522792	.	G	T	1152.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=862;ExcessHet=0.0000;FS=0.821;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.01;ReadPosRankSum=-1.830e-01;SOR=0.857	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1315	20	0	1	0
chr14	74551138	74551138	G	A	exonic	LTBP2	.	nonsynonymous SNV	LTBP2:NM_000428:exon7:c.C1612T:p.R538W,	Glaucoma 3, primary congenital, D;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Autosomal recessive;Weill-Marchesani syndrome 3, recessive, Autosomal recessive	.	0	1515	6	1	0	8	0.00263331	.	.	872607	not_provided|Glaucoma_3,_primary_congenital,_D|Weill-Marchesani_syndrome	MedGen:C3661900|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086,Orphanet:98976|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600,Orphanet:3449	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.609	P	0.143	N	0.985	N	1.7	L	1.63	T	-1.053	T	0.070	T	0.432	3.213	16.76	3.81	1.179	0.175	10.650	0.091	0.0312128160478	0.0002	0.000798722	0.0003	0.0001	0.0010	0	0	0.0002	0.0023	0.0002	0.0002781	43	154602	rs147534770	0.0002	0.0002	0.0002	0.0002	0.0042	0.0002	0.0002	0.0029	0.0024	0.0002	0.0006	3.826e-05	2.519e-05	0	0.0042	0.0002	0.0005	0.0001	0.0002	0.0002	0.0001	0.0002	0.0007	0.0001	9.693e-05	0.0004	0.0003	2.405e-05	0	0.0007	0	0	0	0.0034	0.0001	0.0005	0.0004	0.003	0.68238	D	0.007	0.69154	D	0.998	0.73220	D	0.609	0.51053	P	0.142573	0.18239	N	0.401678	0.98547	0.24708	N	2.28	0.64929	M	1.63	0.28002	T	-2.24	0.50175	N	0.312	0.35194	-1.0530	0.13574	T	0.070	0.28642	T	10	0.013666779	0.00289	T	0.031213	0.53353	D	0.091	0.26358	.	.	0.585352569408	0.58208	0.46336771253725717	0.46255	0.446302142319	0.44507	0.304472386837	0.11072	T	0.32047	0.69165	T	-0.379279	0.03149	T	-0.424004	0.30618	T	0.0791342745919371	0.09875	T	0.89971	0.66592	D	0.07708175	0.17472	0.09554242	0.22664	0.07708175	0.17472	0.09554242	0.22664	-6.096	0.47076	T	.	.	0.087	0.12844	B	.;.	.;.	4.799848	0.77985	26.8	0.99912338966181358	0.98167	0.34373	0.25052	N	AEFDBI	0.367151	0.45471	N	-0.039552492738379	0.40071	2.373464	-0.144513172042635	0.33618	1.925027	0.999837511534448	0.43792	0.706548	0.73137	0	0.59043	0.45803	0	0.527494	0.11647	0	0.714379	0.83352	0	.	.	4.72	3.81	0.43020	0.297000	0.18856	8.569000	0.77598	0.676000	0.76740	0.000000	0.06391	1.000000	0.68203	0.562000	0.30459	0.0:0.194:0.806:0.0	10.650	0.44838	257	0.89904	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2681.11	33	chr14	74551138	.	G	A	2681.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.35;DP=881;ExcessHet=0.1072;FS=5.886;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=1.65;SOR=0.993	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1281	19	0	2	0
chr14	74552291	74552291	G	A	exonic	LTBP2	.	nonsynonymous SNV	LTBP2:NM_000428:exon6:c.C1295T:p.P432L,	Glaucoma 3, primary congenital, D;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Autosomal recessive;Weill-Marchesani syndrome 3, recessive, Autosomal recessive	.	0	1502	19	1	0	21	0.00694215	.	.	132462	Weill-Marchesani_syndrome_3|Glaucoma_3,_primary_congenital,_D|Microspherophakia_and/or_megalocornea,_with_ectopia_lentis_and_with_or_without_secondary_glaucoma|Pseudoexfoliation_glaucoma|not_provided|Weill-Marchesani_syndrome	MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819,Orphanet:3449|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086,Orphanet:98976|MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750,Orphanet:238763|MONDO:MONDO:0008327,MedGen:C0206368,OMIM:177650|MedGen:C3661900|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600,Orphanet:3449	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.52	T	0.111	B	0.011	B	0.141	N	1.000	N	1.085	L	0.82	T	-1.049	T	0.082	T	0.349	1.802	11.98	2.68	1.041	4.813	9.475	0.086	.	0.0005	0.00219649	0.0019	0.0004	8.705e-05	0.0001	0	0.0011	0.0023	0.0085	0.0015782	244	154602	rs137854861	0.0010	0.0010	0.0008	0.0012	0.0077	0.0010	0.0009	0.0072	0.0070	0.0003	0.0006	3.826e-05	0	3.804e-05	0.0071	0.0006	0.0015	0.0077	0.0009	0.0009	0.0008	0.0010	0.0087	0.0008	0.0007	0.0066	0.0059	0.0002	0	0.0019	0.0003	0.0002	0	0.0068	0.0008	0.0005	0.0087	0.786	0.03235	T	0.175	0.30045	T	0.111	0.26235	B	0.011	0.15521	B	0.140672	0.18302	N	0.397320	0.999997	0.08975	N	1.275	0.32135	L	0.82	0.48142	T	-2.96	0.61722	D	0.66	0.79792	-1.0492	0.14621	T	0.082	0.32295	T	10	0.004658282	0.00098	T	.	.	.	0.086	0.25016	.	.	0.448696893172	0.44491	0.5296310797705625	0.52887	0.158631535098	0.17909	0.457526087761	0.32971	T	0.552772	0.84886	D	-0.447621	0.01166	T	-0.410485	0.32170	T	0.029442969772891	0.01904	T	0.79622	0.43953	T	0.049320247	0.08740	0.061357796	0.11835	0.053248297	0.10048	0.061040673	0.11723	-5.75	0.44136	T	.	.	0.081	0.12418	B	.;.	.;.	3.292165	0.45157	22.1	0.91778519781276557	0.21081	0.67916	0.33607	D	AEFDBHCI	0.362874	0.45197	N	-0.567106761961793	0.19950	1.048139	-0.466526081254271	0.23081	1.256938	0.999982259942032	0.51787	0.722319	0.85440	0	0.59043	0.45803	0	0.535252	0.11790	0	0.735409	0.98432	0	.	.	4.9	2.68	0.30839	4.905000	0.62982	7.197000	0.57788	-0.137000	0.12594	1.000000	0.71638	1.000000	0.68203	0.415000	0.27117	0.2558:0.0:0.7442:0.0	9.475	0.38029	257	0.89904	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1148.98	38	chr14	74552291	.	G	A	1148.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.913e+00;DP=928;ExcessHet=0.0000;FS=0.772;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=0.162;SOR=0.796	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1315	20	0	1	0
chr14	74611657	74611657	C	G	exonic	LTBP2	.	nonsynonymous SNV	LTBP2:NM_000428:exon1:c.G288C:p.R96S,	Glaucoma 3, primary congenital, D;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Autosomal recessive;Weill-Marchesani syndrome 3, recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2737861	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.59	T	0.008	B	0.005	B	0.034	N	1.000	N	0.805	L	-1.16	T	-0.993	T	0.203	T	0.207	-0.698	0.978	1.03	0.130	0.612	5.025	0.084	0.202891538817	.	0.000199681	0.0005	0	0	0	0	6.291e-05	0	0.0014	0.0001164	18	154602	rs572393494	5.193e-05	5.13e-05	2.816e-05	7.62e-05	0.0009	4.221e-05	3.883e-05	0.0007	0.0006	0	0	0	2.677e-05	0	0	0	3.418e-05	0.0009	1.314e-05	1.312e-05	2.57e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	0	0	0.0002	0.15	0.24661	T	0.125	0.35330	T	0.008	0.14655	B	0.005	0.11217	B	0.033589	0.24878	N	0.194502	1	0.08975	N	2.095	0.58118	M	-1.16	0.78199	T	-0.55	0.16799	N	0.177	0.19728	-0.9927	0.31906	T	0.203	0.56073	T	10	0.025431514	0.00737	T	0.202892	0.86846	D	0.084	0.24469	0.257	0.19845	0.633161336507	0.63015	0.4809600713537888	0.48016	0.658674614021	0.58763	0.780375123024	0.78984	T	0.159189	0.50252	T	-0.365813	0.03812	T	-0.348682	0.39356	T	0.0709181512221474	0.08780	T	0.680532	0.28920	T	0.14409654	0.33089	0.140207	0.33428	0.14409654	0.33089	0.140207	0.33427	-4.322	0.28484	T	.	.	0.154	0.37501	B	.;.	.;.	2.372955	0.30450	18.44	0.81315838309881738	0.13625	0.28637	0.23608	N	AEFDGBHCI	0.106695	0.21280	N	-0.780286179362904	0.13824	0.6838868	-0.730088409198932	0.16213	0.8566203	0.999987545888192	0.51787	0.446893	0.09132	0	0.563428	0.19063	0	0.503968	0.08637	0	0.56214	0.19341	0	.	.	3.09	1.03	0.19161	0.742000	0.25884	0.650000	0.20403	0.524000	0.24156	0.959000	0.33545	0.999000	0.35428	0.534000	0.29800	0.0:0.4516:0.4115:0.1369	5.025	0.13721	240	0.90628	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	822.98	73	chr14	74611657	.	C	G	822.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.209e+00;DP=814;ExcessHet=0.0000;FS=3.237;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=0.265;SOR=0.405	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1227	20	0	1	0
chr14	74670102	74670102	C	T	exonic	AREL1	.	nonsynonymous SNV	AREL1:NM_001039479:exon14:c.G1633A:p.A545T,	.	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.001	B	0.003	B	0.019	N	0.999	N	0.855	L	0.4	T	-1.060	T	0.036	T	0.255	1.521	11.04	-3.13	-0.558	0.081	4.066	0.029	.	0.0046	0.00698882	0.0018	0.0164	0.0014	0	0	0.0004	0.0023	0.0008	0.0017658	273	154602	rs77043880	0.0007	0.0007	0.0008	0.0007	0.0169	0.0007	0.0007	0.0157	0.0153	0.0169	0.0013	0.0021	2.521e-05	0	0.0056	0.0002	0.0018	0.0009	0.0045	0.0045	0.0047	0.0043	0.0148	0.0043	0.0041	0.0138	0.0134	0.0148	0	0.0022	0.0040	0	0	0	0.0002	0.0043	0.0012	0.508	0.08188	T	0.526	0.10245	T	0.001	0.07471	B	0.003	0.08700	B	0.019088	0.27335	N	0.458944	0.999074	0.21650	N	1.49	0.37298	L	0.4	0.57261	T	-0.61	0.18042	N	0.037	0.01135	-1.0596	0.11855	T	0.036	0.15378	T	10	0.0026145577	0.00040	T	.	.	.	0.029	0.06676	.	.	0.0806252709748	0.07271	0.260344381072286	0.25948	0.333611242029	0.35398	0.302442848682	0.10765	T	0.018722	0.15043	T	-0.482266	0.00717	T	-0.451238	0.27561	T	0.001915548709041	0.00020	T	0.755524	0.38496	T	0.12125713	0.28518	0.084641665	0.19487	0.12125713	0.28518	0.084641665	0.19486	-6.549	0.50663	T	.	.	0.064	0.02091	B	.;.	.;.	1.282514	0.16827	12.79	0.92494229896230895	0.21928	0.08272	0.14223	N	AEFGBI	0.048033	0.08154	N	-1.24935672695812	0.04308	0.1941853	-1.2183749551346	0.05615	0.2680238	0.99996934475226	0.48965	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	6.02	-3.13	0.04944	0.104000	0.15148	-0.058000	0.12460	-0.800000	0.03169	0.014000	0.18986	0.000000	0.08366	0.917000	0.45243	0.08:0.1926:0.3645:0.3629	4.066	0.09339	447	0.79583	HECT domain|HECT domain|HECT domain|HECT domain;HECT domain|HECT domain|HECT domain|HECT domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1227.98	40	chr14	74670102	.	C	T	1227.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.186e+00;DP=790;ExcessHet=0.0000;FS=2.961;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.45;ReadPosRankSum=1.31;SOR=0.434	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1139	20	0	1	0
chr14	74672848	74672848	G	C	exonic	AREL1	.	nonsynonymous SNV	AREL1:NM_001039479:exon11:c.C1405G:p.H469D,	.	.	423	1090	8	1	0	10	0.00456621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.833	P	0.334	B	0.000	D	1.000	D	-0.78	N	1.21	T	-0.806	T	0.110	T	0.72	0.898	8.648	4.97	2.941	6.613	14.791	0.293	0.0207938383895	.	.	0.0003	0.0001	0	0	0	4.497e-05	0.0011	0.0017	0.0002393	37	154602	rs763048750	0.0002	0.0002	0.0001	0.0002	0.0059	0.0002	0.0002	0.0043	0.0038	5.974e-05	6.708e-05	0	0	0	0.0059	5.216e-05	0.0004	0.0017	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	8.711e-05	0.0005	0.0004	4.811e-05	0	0.0003	0	0	0	0.0102	8.82e-05	0.0005	0.0012	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.086706	1	0.81001	D	-0.635	0.02130	N	1.21	0.72125	T	0.06	0.06253	N	0.702	0.70615	-0.8057	0.54807	T	0.110	0.39675	T	10	0.026138276	0.00788	T	0.020794	0.43452	T	0.293	0.61272	.	.	0.514755673002	0.51116	0.7189359683528408	0.71836	0.612211333373	0.55821	0.724126815796	0.70649	T	0.018236	0.14734	T	-0.191183	0.22084	T	-0.0606275	0.66288	T	0.0776783375518589	0.09688	T	0.79532	0.45429	T	0.49567458	0.66840	0.27318543	0.53236	0.49567458	0.66841	0.27318543	0.53235	-0.048	0.00366	T	.	.	0.142	0.36134	B	.;.	.;.	3.001055	0.40103	21.1	0.96711424961893244	0.30814	0.99612	0.97981	D	AEFGBI	0.798852	0.72528	D	-0.120680268131885	0.36492	2.110114	0.128052007407467	0.45991	2.852474	0.999999999988856	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.87	4.97	0.65419	6.707000	0.74478	8.707000	0.78125	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0689:0.0:0.9311:0.0	14.791	0.69466	505	0.75648	HECT domain;HECT domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2013.98	36	chr14	74672848	.	G	C	2013.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.590e-01;DP=871;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=0.653;SOR=0.687	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr14	74673098	74673098	G	A	exonic	AREL1	.	nonsynonymous SNV	AREL1:NM_001039479:exon10:c.C1279T:p.R427C,	.	.	422	1082	18	0	0	18	0.00824931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.893	P	0.000	N	1.000	D	1.59	L	0.68	T	-0.657	T	0.229	T	0.64	4.549	24.6	5.29	1.632	7.657	15.627	0.371	0.0523300725133	0.0007	0.000998403	0.0015	0.0001	0.0004	0	0.0002	0.0009	0.0022	0.0067	0.0014036	217	154602	rs202071581	0.0013	0.0013	0.0011	0.0015	0.0073	0.0013	0.0012	0.0068	0.0066	0.0005	0.0006	0.0002	0.0003	0.0001	0.0040	0.0010	0.0011	0.0073	0.0008	0.0008	0.0008	0.0008	0.0064	0.0007	0.0007	0.0047	0.0040	0.0003	0.0011	0.0005	0.0003	0.0002	0	0	0.0010	0.0005	0.0064	0.006	0.61437	D	0.018	0.59732	D	1.0	0.90584	D	0.893	0.63340	P	0.000000	0.84330	N	0.044578	1	0.81001	D	1.59	0.40313	L	0.68	0.51952	T	-3.98	0.73788	D	0.573	0.59563	-0.6571	0.62404	T	0.229	0.59484	T	10	0.011578888	0.00252	T	0.05233	0.65029	D	0.371	0.69016	.	.	0.434934176536	0.43114	0.8021690508504536	0.80170	1.10997116667	0.78028	0.862391114235	0.91464	D	0.25013	0.62019	T	-0.274268	0.11285	T	-0.163436	0.58041	T	0.0702039408352876	0.08680	T	0.928707	0.73770	D	0.31272128	0.54020	0.20806251	0.45092	0.31272128	0.54020	0.20806251	0.45091	-5.643	0.43183	T	.	.	0.184	0.53936	B	.;.	.;.	4.532196	0.71161	25.6	0.99896860065188642	0.96971	0.98810	0.87149	D	AEFGBI	0.928694	0.91330	D	0.248108139380359	0.53545	3.522949	0.350449988346633	0.58533	4.024555	0.999999999951632	0.74766	0.732398	0.92422	0	0.723133	0.82719	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	6.17	5.29	0.74430	7.777000	0.84262	10.028000	0.83159	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.796000	0.37562	0.0653:0.0:0.9346:0.0	15.627	0.76621	512	0.75040	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1836.98	36	chr14	74673098	.	G	A	1836.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.13;DP=837;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.57;ReadPosRankSum=0.590;SOR=0.784	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr14	74676156	74676156	T	C	exonic	AREL1	.	nonsynonymous SNV	AREL1:NM_001039479:exon7:c.A817G:p.I273V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.018	B	0.008	B	0.001	D	1.000	D	1.495	L	0.76	T	-0.994	T	0.111	T	0.134	2.528	14.41	4.31	2.075	3.908	11.488	0.047	0.00733869427659	.	0.000199681	0.0002	0.0001	0	0	0	3.004e-05	0	0.0010	0.0001294	20	154602	rs564756614	5.748e-05	5.814e-05	3.541e-05	7.977e-05	0.0008	4.744e-05	4.367e-05	0.0007	0.0006	2.987e-05	0	0	0.0001	0	0	2.698e-06	6.623e-05	0.0008	6.57e-05	6.563e-05	5.141e-05	8.063e-05	0.0004	3.516e-05	2.616e-05	7.296e-05	3.048e-05	0.0001	0	0	0	0.0002	0	0	0	0.0009	0.0004	0.118	0.30375	T	0.216	0.26226	T	0.018	0.17786	B	0.008	0.13708	B	0.000811	0.41658	D	0.260360	0.99998	0.54805	D	1.905	0.50856	L	0.76	0.49919	T	-0.44	0.14588	N	0.198	0.21839	-0.9940	0.31565	T	0.111	0.39912	T	10	0.03902316	0.02362	T	0.007339	0.19469	T	0.047	0.12962	0.263	0.20788	0.459642846412	0.45589	0.33455418603229864	0.33368	0.289516481914	0.31364	0.605499267578	0.53681	T	0.040822	0.25655	T	-0.462701	0.00945	T	-0.502169	0.22123	T	0.0481935281969492	0.05178	T	0.856914	0.55431	D	0.040934667	0.05935	0.048442278	0.07194	0.040934667	0.05935	0.048442278	0.07193	-3.61	0.18002	T	.	.	0.104	0.21353	B	.;.	.;.	2.835257	0.37390	20.5	0.99197933866200327	0.55201	0.96822	0.71126	D	AEFBI	0.431689	0.49387	N	-0.041329768483618	0.39989	2.367378	0.124439615935906	0.45802	2.836992	0.999996128600457	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.47	4.31	0.50718	3.892000	0.55947	5.086000	0.47311	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0715:0.0:0.9285	11.488	0.49611	548	0.72362	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1332.98	94	chr14	74676156	.	T	C	1332.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.483;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.18;ReadPosRankSum=1.10;SOR=0.643	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1377	20	0	1	0
chr14	74778559	74778559	C	A	exonic	YLPM1	.	nonsynonymous SNV	YLPM1:NM_019589:exon2:c.C986A:p.P329Q,	.	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.027	B	0.017	B	0.006	N	0.649	N	-0.205	N	1.96	T	-1.055	T	0.009	T	0.184	1.158	9.715	4.53	2.567	2.106	11.233	0.016	.	0.0042	0.00698882	0.0029	0.0230	0.0031	0	0	0.0007	0.0036	0.0019	0.0017529	271	154602	rs77448538	0.0008	0.0008	0.0008	0.0008	0.0179	0.0008	0.0008	0.0167	0.0163	0.0179	0.0014	0.0022	5.069e-05	0	0.0061	0.0002	0.0020	0.0013	0.0047	0.0047	0.0049	0.0045	0.0151	0.0044	0.0043	0.0142	0.0138	0.0151	0	0.0023	0.0040	0	0	0	0.0003	0.0043	0.0017	0.292	0.14894	T	0.404	0.14818	T	.	.	.	.	.	.	0.005740	0.32555	N	0.220858	0.64941	0.32950	D	0.895	0.22405	L	1.96	0.22270	T	-0.75	0.36189	N	0.205	0.22742	-1.0550	0.13040	T	0.009	0.03271	T	10	0.0023353398	0.00034	T	.	.	.	0.016	0.02506	.	.	0.043077524339	0.03247	0.07371866101587875	0.07308	0.103469901482	0.11702	0.348592877388	0.17715	T	0.003348	0.11328	T	-0.549354	0.00294	T	-0.547605	0.17555	T	0.00589988807870542	0.00065	T	0.667233	0.27634	T	0.34153277	0.56401	0.16663404	0.38486	0.34153277	0.56401	0.16663404	0.38485	-4.746	0.33956	T	.	.	0.103	0.18331	B	.;.	.;.	2.094197	0.26643	17.19	0.83035251510643904	0.14507	0.70115	0.34458	D	AEFDBHCI	0.069202	0.13687	N	-0.28429631854584	0.29754	1.652876	-0.0769875725394079	0.36344	2.11386	0.997926675061541	0.36199	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.48	4.53	0.55009	2.139000	0.41773	2.600000	0.33516	0.549000	0.26987	0.991000	0.37257	0.983000	0.30585	0.937000	0.47636	0.2866:0.7134:0.0:0.0	11.233	0.48153	590	0.68897	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1104.98	34	chr14	74778559	.	C	A	1104.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.010;DP=785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.64;ReadPosRankSum=-1.240e+00;SOR=0.716	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1164	20	0	1	0
chr14	74781778	74781778	C	G	exonic	YLPM1	.	nonsynonymous SNV	YLPM1:NM_019589:exon4:c.C1735G:p.P579A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.997	D	0.921	D	.	.	1.000	D	1.59	L	.	.	-0.638	T	0.351	T	0.312	3.040	16.14	5.9	2.793	6.121	19.866	0.176	0.0198110276327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.751e-06	0.0002	4.108e-06	1.382e-06	3.62e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.62e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.19710	T	0.078	0.50514	T	.	.	.	.	.	.	.	.	.	.	0.999918	0.81001	D	.	.	.	.	.	.	-1.59	0.38345	N	0.4	0.45237	-0.6378	0.63239	T	0.351	0.71462	T	8	0.25861296	0.43289	T	0.019811	0.42265	T	0.176	0.44373	0.315	0.29096	0.110392049598	0.10638	0.3113116681727129	0.31044	0.108738436801	0.12267	0.763889551163	0.76510	T	0.017928	0.14543	T	-0.0710243	0.41164	T	-0.339798	0.40367	T	0.417973161023554	0.29615	T	0.806719	0.45571	T	0.11252477	0.26582	0.244229	0.49884	0.11252477	0.26582	0.244229	0.49883	-8.122	0.61899	D	.	.	0.158	0.34840	B	.;.	.;.	2.502066	0.32303	19.00	0.9838911524607169	0.40936	0.99479	0.96535	D	AEFGBI	0.614150	0.60158	D	0.618526765893469	0.74345	6.117236	0.650981732843165	0.78684	6.925852	0.999999999999985	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	1.669000	0.37108	5.846000	0.50293	0.549000	0.26987	0.985000	0.35982	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	19.866	0.96800	598	0.68232	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1667	98.44	106	chr14	74781778	.	C	G	98.44	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.319e+00;DP=2287;ExcessHet=0.1072;FS=281.393;InbreedingCoeff=-0.2810;MLEAC=3;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=0.42;ReadPosRankSum=0.871;SOR=8.349	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:103,0:103:0:.:.:0,0,1693	4	0	2	15
chr14	74781779	74781779	C	G	exonic	YLPM1	.	nonsynonymous SNV	YLPM1:NM_019589:exon4:c.C1736G:p.P579R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	1.0	D	0.984	D	.	.	1.000	D	1.59	L	.	.	-0.578	T	0.312	T	0.376	2.451	14.16	5.9	2.793	3.408	14.092	0.121	0.026397561712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.36912	T	0.011	0.72224	D	.	.	.	.	.	.	.	.	.	.	0.999775	0.81001	D	.	.	.	.	.	.	-1.73	0.48523	N	0.652	0.66272	-0.5780	0.65696	T	0.312	0.68229	T	8	0.4610075	0.59284	T	0.026398	0.49309	D	0.121	0.33580	0.39	0.41279	0.123314135267	0.11883	0.4474048113735965	0.44658	0.119333337301	0.13438	0.809758782387	0.83456	D	0.018243	0.14740	T	-0.00786362	0.50564	T	-0.249072	0.49907	T	0.577931891752913	0.35539	D	0.787421	0.42665	T	0.25242773	0.48258	0.32784796	0.58679	0.25242773	0.48258	0.32784796	0.58678	-11.157	0.80512	D	.	.	0.528	0.65841	A	.;.	.;.	2.926139	0.38864	20.8	0.98555870954543157	0.42909	0.98429	0.82685	D	AEFGBI	0.446319	0.50243	N	0.636817590709346	0.75517	6.320194	0.648738560687963	0.78515	6.892166	0.99999999807232	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	3.660000	0.54234	5.848000	0.50311	0.549000	0.26987	0.994000	0.38300	1.000000	0.68203	0.954000	0.50415	0.0:0.9277:0.0:0.0723	14.092	0.64522	598	0.68232	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04167	91.22	74	chr14	74781779	.	C	G	91.22	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-3.211e+00;DP=2040;ExcessHet=0.0000;FS=184.772;InbreedingCoeff=-0.1530;MLEAC=2;MLEAF=0.083;MQ=60.00;MQRankSum=0.00;QD=0.71;ReadPosRankSum=0.869;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:103,0:103:0:.:.:0,0,1693	11	0	1	9
chr14	74799567	74799569	CAT	-	exonic	YLPM1	.	nonframeshift deletion	YLPM1:NM_019589:exon5:c.4270_4272del:p.H1425del,	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1406697557	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3358.94	39	chr14	74799566	.	ACAT	A	3358.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.139e+00;DP=898;ExcessHet=0.0000;FS=2.691;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.53;ReadPosRankSum=1.84;SOR=0.944	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1321	20	0	1	0
chr14	74809473	74809473	G	C	exonic	YLPM1	.	nonsynonymous SNV	YLPM1:NM_019589:exon7:c.G4615C:p.V1539L,	.	.	431	1049	41	1	0	43	0.0200841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.428	N	0.999	N	-0.345	N	.	.	-0.982	T	0.018	T	0.088	1.343	10.41	-3.3	-0.207	-0.166	6.547	0.099	.	0.0042	0.00219649	0.0062	0.0016	0.0046	0	0.0046	0.0079	0.0114	0.0065	0.0041655	644	154602	rs139645102	0.0054	0.0054	0.0055	0.0054	0.0247	0.0053	0.0053	0.0214	0.0202	0.0014	0.0039	0.0040	2.578e-05	0.0044	0.0247	0.0058	0.0056	0.0055	0.0039	0.0039	0.0041	0.0037	0.0059	0.0036	0.0035	0.0054	0.0052	0.0010	0	0.0030	0.0066	0.0002	0.0034	0.0170	0.0059	0.0066	0.0056	0.369	0.11586	T	0.685	0.13634	T	.	.	.	.	.	.	0.428077	0.12784	N	0.712848	0.999986	0.21372	N	.	.	.	.	.	.	0.12	0.05917	N	0.202	0.22357	-0.9815	0.34655	T	0.018	0.07706	T	9	0.0050153434	0.00108	T	.	.	.	0.099	0.28413	0.246	0.18139	0.043077524339	0.03247	0.3544232962056145	0.35356	0.114460003441	0.12903	0.421121537685	0.27990	T	0.002439	0.01836	T	-0.629407	0.00096	T	-0.670337	0.07586	T	0.0014493992208708	0.00015	T	0.756024	0.37907	T	0.08233242	0.18962	0.07522694	0.16541	0.08233242	0.18961	0.07522694	0.16541	-2.789	0.08082	T	.	.	0.099	0.22282	B	.;.	.;.	1.066790	0.14488	11.06	0.90336484123853977	0.19601	0.67940	0.33616	D	AEFGBI	0.145081	0.26821	N	-0.930382740093858	0.10136	0.4829762	-0.779091164806651	0.15007	0.787145	0.418820137012474	0.20274	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.18	-3.3	0.04692	-0.159000	0.10043	0.795000	0.21604	0.618000	0.50648	0.781000	0.29485	0.996000	0.32793	0.997000	0.79791	0.5994:0.2743:0.1263:0.0	6.547	0.21609	707	0.57054	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2012.98	39	chr14	74809473	.	G	C	2012.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.480e-01;DP=914;ExcessHet=0.0000;FS=3.396;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.37;ReadPosRankSum=-9.260e-01;SOR=1.053	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1414	20	0	1	0
chr14	74809527	74809527	C	G	exonic	YLPM1	.	nonsynonymous SNV	YLPM1:NM_019589:exon7:c.C4669G:p.P1557A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.11	B	0.037	B	0.004	N	1.000	N	0.345	N	.	.	-1.057	T	0.059	T	0.304	2.203	13.32	5.09	2.361	2.750	12.555	0.027	0.00520135931946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.30515	T	0.08	0.41913	T	.	.	.	.	.	.	0.004008	0.34221	N	0.207799	1	0.08975	N	.	.	.	.	.	.	-1.77	0.41809	N	0.394	0.43514	-1.0572	0.12465	T	0.059	0.24649	T	9	0.12590471	0.23931	T	0.005201	0.13248	T	0.027	0.05988	0.195	0.10705	0.0675242888579	0.06100	0.5812892183569102	0.58057	0.531795332221	0.50662	0.438879489899	0.30424	T	0.022654	0.17431	T	-0.0836076	0.39125	T	-0.357873	0.38298	T	0.505337655544281	0.32825	D	0.845715	0.52486	T	0.24184598	0.47105	0.15684956	0.36704	0.24184598	0.47105	0.15684956	0.36703	-6.656	0.51478	T	.	.	0.079	0.14293	B	.;.	.;.	3.683178	0.52433	23.2	0.99086080182414982	0.52100	0.83926	0.43016	D	AEFBI	0.102716	0.20598	N	-0.402367563969886	0.25386	1.377673	-0.252498129824024	0.29686	1.665141	0.940101291003349	0.27417	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.09	5.09	0.68647	2.790000	0.47512	7.168000	0.57719	0.549000	0.26987	0.999000	0.42656	1.000000	0.68203	0.924000	0.46004	0.0:0.7783:0.2217:0.0	12.555	0.55597	707	0.57054	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1517.98	39	chr14	74809527	.	C	G	1517.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.807;DP=903;ExcessHet=0.0000;FS=0.651;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=2.37;SOR=0.631	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1414	20	0	1	0
chr14	74858480	74858480	T	G	exonic	PROX2	.	nonsynonymous SNV	PROX2:NM_001243007:exon4:c.A1340C:p.K447T	.	.	8	1503	11	0	0	11	0.00364601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.74	M	0.38	T	-0.139	T	0.385	T	0.871	4.501	24.2	5.3	2.003	8.040	15.263	0.655	0.0326759135246	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1458233090	9.083e-06	8.893e-06	6.92e-06	1.129e-05	2.452e-05	5.07e-06	3.91e-06	4.62e-06	3.37e-06	0	0	0	0	0	0	9.13e-06	1.685e-05	2.452e-05	1.971e-05	1.97e-05	1.284e-05	2.69e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000004	0.62929	D	0.103999	1	0.81001	D	.	.	.	0.38	0.57575	T	-5.5	0.85844	D	0.903	0.90363	-0.1392	0.79185	T	0.385	0.74047	T	10	0.8325588	0.82417	D	0.032676	0.54438	D	0.655	0.87035	0.357	0.35897	0.727978508315	0.72556	0.8226170539995037	0.82218	.	.	0.767907381058	0.77112	T	0.383096	0.74503	T	0.21867	0.75650	D	0.191283	0.82642	D	0.97449141740799	0.70532	D	0.994508	0.98160	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.862	0.80432	P	.	.	4.671667	0.74675	26.2	0.99775609016454281	0.86260	0.98626	0.84855	D	AEFI	0.912740	0.87377	D	0.826236022616293	0.87716	9.31559	0.774778682448774	0.87990	9.417491	0.999999999999278	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.3	5.3	0.74745	8.017000	0.88732	7.940000	0.75441	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.263	0.73340	721	0.55360	Homeo-prospero domain|Homeo-prospero domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1090.98	33	chr14	74858480	.	T	G	1090.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.760e-01;DP=829;ExcessHet=0.0000;FS=0.663;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.73;ReadPosRankSum=0.816;SOR=0.620	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	20	0	1	0
chr14	74881964	74881964	G	A	exonic	DLST	.	nonsynonymous SNV	DLST:NM_001244883:exon1:c.G11A:p.R4Q	.	.	.	.	.	.	.	.	.	.	.	2810557	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.96	D	0.151	B	0.000	D	1.000	D	0.695	N	2.41	T	-1.051	T	0.022	T	0.463	2.216	13.37	3.52	2.298	2.903	11.875	0.109	0.170103746395	.	.	0.0001	0	0.0004	0	0	6.765e-05	0.0035	0.0001	3.88e-05	6	154602	rs774943636	0.0001	0.0001	0.0001	0.0001	0.0005	9.575e-05	9.022e-05	0.0001	0.0001	0	0	3.937e-05	0	0	0.0005	0.0001	6.805e-05	6.094e-05	0.0001	0.0001	0.0001	9.414e-05	0.0002	6.511e-05	5.323e-05	7.91e-05	5.995e-05	2.412e-05	0	0.0001	0.0003	0	0	0	0.0001	0.0005	0.0002	0.015	0.52492	D	0.324	0.52060	T	0.645	0.40526	P	0.113	0.31689	B	0.000042	0.53742	D	0.130582	0.727868	0.81001	D	0.49	0.13296	N	2.41	0.15492	T	-0.05	0.07736	N	0.385	0.42639	-1.0509	0.14147	T	0.022	0.09513	T	10	0.14427224	0.27380	T	0.170104	0.84775	D	0.109	0.30843	0.229	0.15556	0.325139982731	0.32122	0.612237910704922	0.61155	0.233500073682	0.25879	0.735725998878	0.72343	T	0.199131	0.55632	T	-0.120812	0.32989	T	-0.411314	0.32073	T	0.225286912269736	0.21725	T	0.943406	0.78638	D	0.15123951	0.34392	0.22316433	0.47186	0.15123951	0.34391	0.22316433	0.47185	-5.767	0.44286	T	.	.	0.116	0.45847	B	.;.	.;.	3.829937	0.55357	23.6	0.99535088311035613	0.70150	0.94231	0.60513	D	ALL	0.105284	0.21042	N	-0.10705211047509	0.37084	2.152576	-0.0464839909164363	0.37642	2.206801	0.99999999999994	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.46	3.52	0.39415	2.596000	0.45870	6.339000	0.55473	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.044000	0.14658	0.0:0.1753:0.8247:0.0	11.875	0.51822	663	0.61610	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	919.98	34	chr14	74881964	.	G	A	919.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.351e+00;DP=763;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.37;ReadPosRankSum=-4.620e-01;SOR=0.597	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,964	20	0	1	0
chr14	75070632	75070632	A	T	exonic	ZC2HC1C	.	nonsynonymous SNV	ZC2HC1C:NM_001042430:exon2:c.A59T:p.N20I	.	.	433	1071	18	0	0	18	0.00833333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.939	D	0.006	N	0.524	N	2.14	M	0.58	T	-0.278	T	0.289	T	0.636	2.428	14.08	4.72	1.995	2.692	10.559	0.228	0.046831026454	8.1e-05	0.00119808	0.0008	0	0	0	0	0.0002	0	0.0049	0.0006792	105	154602	rs201007492	0.0004	0.0004	0.0003	0.0006	0.0049	0.0004	0.0004	0.0045	0.0044	0	0	0.0006	0	0	0.0035	0.0001	0.0004	0.0049	0.0002	0.0002	8.994e-05	0.0003	0.0050	0.0002	0.0001	0.0034	0.0029	4.813e-05	0	0	0.0006	0	0	0	5.88e-05	0	0.0050	0.001	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.939	0.67449	D	0.006301	0.32122	N	0.141524	0.523725	0.31548	N	2.175	0.60977	M	0.58	0.54149	T	-7.55	0.95188	D	0.742	0.77789	-0.2784	0.75584	T	0.289	0.66055	T	10	0.006190151	0.00139	T	0.046831	0.62643	D	0.228	0.52768	.	.	0.487348339145	0.48367	0.22904105704477512	0.22819	0.588004060284	0.54360	0.515668153763	0.41017	T	0.006414	0.05843	T	-0.289295	0.09707	T	-0.188062	0.55772	T	0.216257175862433	0.21276	T	0.763424	0.38984	T	0.32686386	0.55213	0.34871656	0.60507	0.32686386	0.55213	0.34871656	0.60507	-3.538	0.16968	T	.	.	0.288	0.52010	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.203451	0.43573	21.8	0.98696521515898128	0.44838	0.86992	0.46402	D	ALL	0.392574	0.47057	N	0.411941661535108	0.62076	4.417961	0.322720731381291	0.56878	3.851863	0.99999999999863	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.527494	0.11647	0	0.567892	0.33627	0	.	.	4.72	4.72	0.59248	3.031000	0.49417	5.045000	0.46946	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.179000	0.21265	1.0:0.0:0.0:0.0	10.559	0.44325	479	0.77495	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	644.98	33	chr14	75070632	.	A	T	644.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.770e-01;DP=764;ExcessHet=0.0000;FS=6.863;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.84;ReadPosRankSum=0.954;SOR=1.532	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr14	75070643	75070643	G	C	exonic	ZC2HC1C	.	nonsynonymous SNV	ZC2HC1C:NM_001042430:exon2:c.G70C:p.A24P	.	.	434	1070	18	0	0	18	0.00834106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.989	D	0.893	P	0.067	N	1.000	N	1.87	L	0.41	T	-0.907	T	0.207	T	0.48	3.166	16.59	0.588	0.192	0.123	4.563	0.128	0.0148684438122	8.2e-05	0.00119808	0.0008	0	0	0	0	0.0002	0	0.0049	0.0006792	105	154602	rs202071124	0.0004	0.0004	0.0003	0.0006	0.0049	0.0004	0.0004	0.0045	0.0044	0	0	0.0006	0	0	0.0035	0.0001	0.0004	0.0049	0.0002	0.0002	8.994e-05	0.0003	0.0050	0.0002	0.0001	0.0034	0.0029	4.812e-05	0	0	0.0006	0	0	0	5.881e-05	0	0.0050	0.009	0.65419	D	0.04	0.57587	D	0.989	0.62824	D	0.893	0.63340	P	0.067454	0.21740	N	0.329934	0.999999	0.08975	N	2.045	0.56016	M	0.41	0.57100	T	-4.28	0.76334	D	0.477	0.57690	-0.9072	0.47191	T	0.207	0.56608	T	10	0.0027681887	0.00043	T	0.014868	0.35264	T	0.128	0.35103	.	.	0.40318662893	0.39936	0.33644218108618373	0.33557	0.559607918602	0.52497	0.327027440071	0.14486	T	0.003707	0.03111	T	-0.384259	0.02928	T	-0.324471	0.42083	T	0.127540001385723	0.15153	T	0.754325	0.37688	T	0.17973155	0.39059	0.17038666	0.39144	0.17973155	0.39059	0.17038666	0.39143	-3.372	0.15070	T	.	.	0.199	0.42170	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.758541	0.36180	20.2	0.99565120680330121	0.72014	0.14751	0.18567	N	ALL	0.186874	0.31418	N	-0.0815084460523322	0.38204	2.233989	-0.251146011460682	0.29731	1.668147	0.999999999305585	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.527494	0.11647	0	0.567892	0.33627	0	.	.	4.72	0.588	0.16630	0.082000	0.14697	1.568000	0.27399	0.676000	0.76740	0.001000	0.13787	1.000000	0.68203	0.879000	0.42020	0.3365:0.0:0.5184:0.145	4.563	0.11567	479	0.77495	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	642.98	33	chr14	75070643	.	G	C	642.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.090e-01;DP=776;ExcessHet=0.0000;FS=2.057;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.84;ReadPosRankSum=1.53;SOR=1.073	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr14	75437912	75437912	C	A	exonic	JDP2	.	nonsynonymous SNV	JDP2:NM_001135049:exon2:c.C25A:p.P9T,	.	.	421	1072	27	2	0	31	0.0142529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	.	.	.	.	.	.	0.961	D	.	.	0.38	T	-0.928	T	0.151	T	0.163	1.712	11.69	2.54	0.620	0.660	3.855	0.017	.	.	0.00958466	0.0091	0.0051	0.0035	0.0002	0.0125	0.0053	0.0047	0.0309	0.0047218	730	154602	rs201898432	0.0037	0.0038	0.0030	0.0044	0.0233	0.0036	0.0036	0.0224	0.0221	0.0045	0.0032	0.0025	0.0004	0.0084	0.0163	0.0020	0.0046	0.0233	0.0040	0.0040	0.0032	0.0047	0.0249	0.0037	0.0036	0.0213	0.0199	0.0033	0	0.0033	0.0035	0.0004	0.0093	0.0238	0.0024	0.0066	0.0249	0.012	0.54683	D	0.255	0.23365	T	.	.	.	.	.	.	.	.	.	.	0.961317	0.38228	D	.	.	.	0.38	0.57575	T	-1.27	0.31981	N	0.31	0.34981	-0.9281	0.44415	T	0.151	0.47979	T	6	0.004762739	0.00101	T	.	.	.	0.017	0.02790	.	.	0.287411543184	0.28351	0.2138663685806908	0.21302	0.52088637353	0.49874	0.456815749407	0.32874	T	.	.	.	-0.462336	0.00951	T	-0.41997	0.31078	T	0.00653995972438719	0.00073	T	0.577142	0.20757	T	.	.	.	.	.	.	.	.	-2.305	0.04582	T	.	.	0.072	0.04159	B	.	.	1.373561	0.17843	13.40	0.93609651566356189	0.23472	0.55884	0.29976	D	AEFDBI	0.149238	0.27330	N	-0.143449413581287	0.35515	2.040863	-0.164533032682119	0.32852	1.87325	0.999828912313114	0.43622	0.722319	0.85440	0	0.698795	0.70079	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.46	2.54	0.29674	0.672000	0.24868	0.902000	0.22558	0.599000	0.40250	0.251000	0.24859	0.511000	0.25257	0.745000	0.35611	0.0:0.4034:0.1787:0.4178	3.855	0.08479	274	0.89249	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1032.11	30	chr14	75437912	.	C	A	1032.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.333;DP=657;ExcessHet=0.1072;FS=4.599;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=17.20;ReadPosRankSum=-2.250e-01;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1199	19	0	2	0
chr14	75622092	75622092	T	C	exonic	FLVCR2	.	nonsynonymous SNV	FLVCR2:NM_001195283:exon2:c.T68C:p.I23T	Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, Autosomal recessive	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.732	P	0.673	P	0.000	D	1.000	D	2.91	M	0.07	T	-0.264	T	0.370	T	0.723	3.699	18.79	5.86	2.241	7.243	15.228	0.361	0.0530892043146	0.0002	.	7.413e-05	0	0	0	0	0.0001	0	0	7.76e-05	12	154602	rs201694155	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	2.987e-05	2.236e-05	0	0	0	0	0.0003	0.0004	2.319e-05	5.915e-05	6.567e-05	5.139e-05	6.728e-05	8.819e-05	3.078e-05	2.211e-05	3.761e-05	2.575e-05	4.827e-05	0	0	0	0	0	0	8.819e-05	0.0005	0	0.003	0.68238	D	0.004	0.74150	D	0.562	0.38380	P	0.598	0.50679	P	0.000299	0.46274	D	0.187356	0.999458	0.81001	D	2.095	0.58118	M	0.07	0.61677	T	-3.89	0.72820	D	0.66	0.66959	-0.2641	0.75975	T	0.370	0.72917	T	10	0.6095069	0.67364	D	0.053089	0.65328	D	0.361	0.68141	.	.	0.842764597336	0.84126	0.7640151880188254	0.76349	0.73787972437	0.63083	0.463025271893	0.33725	T	0.407859	0.76335	T	-0.0635141	0.42357	T	-0.0807011	0.64853	T	0.482932179961957	0.32004	T	0.807619	0.57479	T	0.4470289	0.63853	0.5184307	0.72176	0.4470289	0.63854	0.5184307	0.72177	-7.099	0.54753	T	0.4343556056615661	0.52096	0.113	0.24733	B	.;.	.;.	4.134590	0.61898	24.4	0.99688220346015555	0.79775	0.95845	0.66400	D	AEFBI	0.804871	0.72961	D	0.577670927652929	0.71784	5.703623	0.574009836266024	0.73083	5.912693	0.999999999907311	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.59522	0.37078	0	.	.	5.86	5.86	0.93936	3.457000	0.52771	3.423000	0.38265	0.665000	0.62972	0.839000	0.30269	1.000000	0.68203	0.924000	0.46004	0.0:0.0:0.0:1.0	15.228	0.73056	133	0.94666	Major facilitator superfamily domain|Major facilitator superfamily domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1491.98	33	chr14	75622092	.	T	C	1491.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=804;ExcessHet=0.0000;FS=0.748;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=0.700;SOR=0.850	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1327	20	0	1	0
chr14	75764730	75764730	C	G	exonic	TTLL5	.	nonsynonymous SNV	TTLL5:NM_015072:exon19:c.C1666G:p.R556G,	Cone-rod dystrophy 19, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	841794	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.984	D	0.852	P	0.473	N	1.000	N	1.355	L	3.64	T	-0.984	T	0.127	T	0.511	3.468	17.76	3.22	1.196	1.656	13.854	0.106	0.0348284695871	.	.	8.248e-06	0	0	0	0	0	0	6.061e-05	6.5e-06	1	154602	rs770811029	1.847e-05	1.847e-05	6.807e-06	3.025e-05	0.0003	1.265e-05	1.084e-05	7.997e-05	6.236e-05	0	0	0	0	0	0.0003	1.169e-05	0	0.0001	2.628e-05	2.627e-05	3.854e-05	1.345e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.001	0.78490	D	0.026	0.63918	D	0.834	0.60733	P	0.438	0.60758	B	0.473440	0.12250	N	0.754917	1	0.81001	D	1.65	0.42232	L	3.58	0.32958	T	-2.53	0.60348	D	0.539	0.58713	-0.9837	0.34140	T	0.127	0.43318	T	10	0.29858518	0.47414	T	0.034828	0.55938	D	0.106	0.30130	0.328	0.31196	0.171388866994	0.16791	0.25798782657078684	0.25712	0.352308218396	0.37068	0.542880892754	0.44852	T	0.203749	0.56231	T	-0.249213	0.14195	T	-0.321454	0.42415	T	0.409095863189939	0.29284	T	0.889111	0.64631	D	0.25382072	0.48407	0.39753157	0.64365	0.25382072	0.48406	0.39753157	0.64365	-2.594	0.45110	T	0.23661305429944016	0.32040	0.381	0.58464	A	.;.;.;.	.;.;.;.	3.721703	0.53189	23.3	0.99825766202352806	0.90852	0.80901	0.40423	D	AEFDGBI	0.241742	0.36331	N	0.27821648190313	0.55046	3.668994	0.286711539582891	0.54763	3.640351	0.0289744459540654	0.13861	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.29	3.22	0.36041	1.695000	0.37381	3.458000	0.38494	0.529000	0.24592	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.2891:0.7109:0.0:0.0	13.854	0.63013	840	0.37365	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	697.98	38	chr14	75764730	.	C	G	697.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.23;DP=774;ExcessHet=0.0000;FS=0.898;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.18;ReadPosRankSum=1.78;SOR=0.570	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1104	20	0	1	0
chr14	75775497	75775497	G	A	exonic	TTLL5	.	nonsynonymous SNV	TTLL5:NM_015072:exon22:c.G2150A:p.R717H,	Cone-rod dystrophy 19, Autosomal recessive	.	427	1081	14	0	0	14	0.00643382	.	.	948686	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.978	D	0.411	B	0.000	D	1.000	D	1.3	L	3.6	T	-1.081	T	0.084	T	0.925	3.194	16.69	5.65	2.824	5.795	13.591	0.276	0.0152049880036	.	.	0.0004	0	0.0002	0	0	0.0006	0.0033	0.0004	0.0003234	50	154602	rs201405297	0.0002	0.0002	0.0002	0.0002	0.0050	0.0002	0.0002	0.0036	0.0031	2.99e-05	0.0002	7.668e-05	0	1.873e-05	0.0050	0.0002	0.0005	0.0001	0.0001	0.0001	9.022e-05	0.0001	0.0002	7.604e-05	6.304e-05	0.0001	0.0001	0	0	6.567e-05	0	0	0	0.0034	0.0002	0.0005	0	0.078	0.33923	T	0.059	0.45961	T	0.645	0.58756	P	0.137	0.44827	B	0.000007	0.62929	D	0.148296	0.978511	0.81001	D	1.78	0.46185	L	3.49	0.36691	T	-3.26	0.69357	D	0.211	0.37820	-1.0806	0.07233	T	0.084	0.32900	T	10	0.14416781	0.27363	T	0.015205	0.35810	T	0.276	0.59253	0.528	0.63412	0.213573922156	0.20996	0.3055738978084032	0.30470	0.194651173634	0.21805	0.700544834137	0.67222	T	0.195893	0.61963	T	-0.0213272	0.48664	T	0.0833071	0.75798	D	0.129002347588539	0.15289	T	0.950905	0.86318	D	0.11419105	0.26961	0.11841685	0.28584	0.11419105	0.26960	0.11841685	0.28583	-8.462	0.64177	D	0.5412629994834364	0.61088	0.471	0.63234	A	.;.;.;.	.;.;.;.	4.590897	0.72620	25.9	0.99809513919672088	0.89353	0.98088	0.79496	D	AEFGBI	0.672222	0.63870	D	0.354883459339965	0.58999	4.075751	0.478985847315672	0.66599	4.973146	0.995669873958673	0.34254	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	5.640000	0.67547	9.837000	0.81899	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.074:0.0:0.926:0.0	13.591	0.61430	851	0.35303	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1401.98	38	chr14	75775497	.	G	A	1401.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.041e+00;DP=820;ExcessHet=0.0000;FS=3.416;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=1.38;SOR=0.452	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr14	75980812	75980812	T	G	exonic	TGFB3	.	nonsynonymous SNV	TGFB3:NM_001329938:exon1:c.A82C:p.T28P	Arrhythmogenic right ventricular dysplasia 1, Autosomal dominant;Loeys-Dietz syndrome 5, Autosomal dominant	.	0	1515	6	1	0	8	0.00263331	.	.	241896	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Rienhoff_syndrome|not_provided|Arrhythmogenic_right_ventricular_dysplasia_1	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0014262,MedGen:C3810012,OMIM:615582|MedGen:C3661900|MONDO:MONDO:0007152,MedGen:C1862511,OMIM:107970,Orphanet:3403	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.978	D	0.828	P	0.000	D	1.000	D	1.7	L	-0.14	T	-0.445	T	0.317	T	0.857	2.906	15.68	4.65	1.868	5.048	13.376	0.427	0.057687750084	.	0.000199681	0.0001	0	0	0	0.0002	4.495e-05	0	0.0006	9.7e-05	15	154602	rs564013964	4.309e-05	4.309e-05	2.722e-05	5.913e-05	0.0014	3.442e-05	3.129e-05	0.0007	0.0005	0	0	0	5.038e-05	1.872e-05	0.0014	8.093e-06	0.0001	0.0004	2.631e-05	2.626e-05	1.286e-05	4.037e-05	0.0002	8.15e-06	5.14e-06	.	.	0	0	6.545e-05	0	0	0	0	1.471e-05	0.0005	0.0002	0.048	0.47745	D	0.054	0.47097	T	0.978	0.58756	D	0.828	0.59497	P	0.000000	0.84330	D	0.000000	0.999829	0.49512	D	1.735	0.44892	L	-0.14	0.65006	T	-1.27	0.35792	N	0.204	0.28732	-0.4447	0.70575	T	0.317	0.68637	T	10	0.16817605	0.31354	T	0.057688	0.67052	D	0.427	0.73445	.	.	0.819186829257	0.81748	0.4155835036557827	0.41474	1.66393245162	0.89724	0.576532065868	0.49596	T	0.442459	0.78661	T	0.0123334	0.53343	T	0.101906	0.77034	D	0.241325313962933	0.22480	T	0.519248	0.29288	T	0.5239688	0.68486	0.58034986	0.75677	0.5239688	0.68487	0.58034986	0.75678	-5.74	0.44048	T	.	.	0.162	0.35746	B	.;.	.;.	3.408959	0.47284	22.4	0.99011646938320275	0.50377	0.91389	0.53435	D	AEFDGBCI	0.882908	0.81141	D	0.517933877809326	0.68151	5.177859	0.504873547102787	0.68318	5.203522	0.999999985237554	0.74766	0.764865	0.99124	0	0.588066	0.40923	0	0.731555	0.93304	0	0.604944	0.38103	0	.	.	4.65	4.65	0.57626	5.069000	0.64199	6.224000	0.55156	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.376	0.60185	883	0.28872	TGF-beta, propeptide;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2168.11	34	chr14	75980812	.	T	G	2168.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.80;DP=872;ExcessHet=0.1072;FS=3.205;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.13;ReadPosRankSum=1.78;SOR=0.952	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1314	19	0	2	0
chr14	76177923	76177923	C	T	exonic	GPATCH2L	.	stopgain	GPATCH2L:NM_017972:exon6:c.C1084T:p.R362X	.	.	469	1019	30	4	0	38	0.0183044	.	.	2810561	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	5.654	36	4.32	1.323	2.065	12.347	.	.	0.0035	0.00359425	0.0045	0.0017	0.0049	0	0.0003	0.0053	0.0166	0.0061	0.0043855	678	154602	rs117516637	0.0042	0.0043	0.0040	0.0044	0.0327	0.0041	0.0041	0.0288	0.0273	0.0013	0.0062	0.0080	0	0.0005	0.0327	0.0040	0.0062	0.0060	0.0038	0.0038	0.0040	0.0037	0.0077	0.0036	0.0035	0.0066	0.0062	0.0011	0	0.0077	0.0095	0.0002	0	0.0306	0.0049	0.0061	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.408	0.44857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.303757	0.08310	T	-0.206491	0.54031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.767942	0.54107	23.4	0.9969627417015734	0.80316	0.92029	0.54788	D	AEFGBI	0.113998	0.22470	N	-0.146814314135127	0.35369	2.030754	-0.0591147514923771	0.37098	2.167655	0.999986360647847	0.51787	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.528226	0.09195	0	.	.	5.2	4.32	0.50899	2.830000	0.47837	4.035000	0.41373	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.9213:0.0:0.0787	12.347	0.54450	604	0.67577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1499.11	36	chr14	76177923	.	C	T	1499.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.71;DP=822;ExcessHet=0.1072;FS=5.553;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.27;ReadPosRankSum=0.433;SOR=1.226	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1118	19	0	2	0
chr14	77027301	77027301	-	GCG	exonic	IRF2BPL	.	nonframeshift insertion	IRF2BPL:NM_024496:exon1:c.491_492insCGC:p.A164_V165insA,	.	.	280	1224	11	0	7	18	0.00447336	.	.	1164466	not_provided|IRF2BPL-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0002	0.0014	0	0	0.0005	0.0024	0.0014	0.0001153	3	26028	rs780441372	0.0011	0.0010	0.0010	0.0011	0.0018	0.0010	0.0010	0.0015	0.0014	0.0007	0.0010	0.0059	0.0002	0.0008	0	0.0010	0.0010	0.0018	0.0012	0.0012	0.0012	0.0012	0.0018	0.0010	0.0010	0.0013	0.0011	0.0008	0	0.0018	0.0084	0.0006	0.0006	0	0.0011	0.0005	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1130.94	33	chr14	77027301	.	C	CGCG	1130.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=921;ExcessHet=0.0000;FS=5.213;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.54;ReadPosRankSum=0.436;SOR=0.264	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,105,1124	20	0	1	0
chr14	77027445	77027445	C	0	exonic	IRF2BPL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6562	12393.38	37	chr14	77027445	.	C	T,*	12393.38	.	AC=20,1;AF=0.625,0.031;AN=32;BaseQRankSum=0.947;DP=915;ExcessHet=1.6165;FS=2.187;InbreedingCoeff=-0.1019;MLEAC=23,1;MLEAF=0.719,0.031;MQ=59.99;MQRankSum=0.00;QD=28.23;ReadPosRankSum=-4.090e-01;SOR=0.961	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,30,0:30:90:1|1:77027445_C_T:1320,90,0,1320,90,1321:77027445	1	6	8	5
chr14	77027447	77027454	GCTGTTGC	-	exonic	IRF2BPL	.	frameshift deletion	IRF2BPL:NM_024496:exon1:c.339_346del:p.Q114Afs*16,	.	.	601	913	4	1	3	9	0.00327511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0148	0	0	0	0	0.0033	0	0.0213	3.84e-05	1	26028	rs761663166	0.0016	0.0057	0.0012	0.0019	0.0102	0.0015	0.0015	0.0095	0.0093	0.0006	0.0013	0.0005	0.0004	0.0014	0.0015	0.0010	0.0017	0.0102	0.0010	0.0009	0.0009	0.0010	0.0087	0.0008	0.0008	0.0063	0.0055	0.0004	0	0.0006	0	0	0.0008	0.0093	0.0010	0.0018	0.0087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	540.94	51	chr14	77027446	.	TGCTGTTGC	T	540.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.46;DP=875;ExcessHet=0.0000;FS=8.439;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=2.69;SOR=1.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,117,1755	20	0	1	0
chr14	77027448	77027451	CTGT	0	exonic	IRF2BPL	.	.	.	.	.	513	390	392	223	4	842	0.517923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12349.48	37	chr14	77027448	.	CTGT	C,*	12349.48	.	AC=20,1;AF=0.476,0.024;AN=42;BaseQRankSum=1.24;DP=882;ExcessHet=0.5132;FS=2.187;InbreedingCoeff=0.1429;MLEAC=20,1;MLEAF=0.476,0.024;MQ=59.99;MQRankSum=0.00;QD=28.00;ReadPosRankSum=-4.090e-01;SOR=0.961	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,30,0:30:90:1|1:77027445_C_T:1320,90,0,1320,90,1321:77027445	6	6	8	0
chr14	77027470	77027472	TGT	-	exonic	IRF2BPL	.	nonframeshift deletion	IRF2BPL:NM_024496:exon1:c.321_323del:p.Q127del,	.	.	423	1064	20	9	6	44	0.0175439	.	.	1666929	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1014	.	0.0040	0	0.01	0	0	0.0067	0	0.0032	0.0001153	3	26028	rs781248415	0.0033	0.0071	0.0030	0.0036	0.0111	0.0032	0.0032	0.0095	0.0092	0.0020	0.0096	0.0090	0.0043	0.0028	0.0111	0.0027	0.0036	0.0102	0.0022	0.0024	0.0023	0.0021	0.0027	0.0020	0.0019	0.0024	0.0022	0.0017	0	0.0020	0.0065	0.0012	0.0007	0.0144	0.0027	0.0024	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	546.95	34	chr14	77027469	.	CTGT	C	546.95	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.800e-02;DP=518;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0250;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.78;ReadPosRankSum=-2.530e-01;SOR=0.818	GT:AD:DP:GQ:PL	0/0:29,0:29:48:0,48,720	20	0	1	0
chr14	77253308	77253308	G	A	exonic	TMEM63C	.	nonsynonymous SNV	TMEM63C:NM_020431:exon23:c.G2152A:p.E718K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.97	T	0.003	B	0.001	B	0.814	N	1.000	N	1.39	L	2.33	T	-0.945	T	0.034	T	0.44	0.891	8.620	3.63	2.510	0.529	9.430	0.095	0.00279728162475	.	.	3.972e-05	0	0	0	0	3.516e-05	0	0.0002	2.59e-05	4	154602	rs773117217	1.576e-05	1.574e-05	1.363e-05	1.792e-05	0.0002	1.05e-05	8.77e-06	9.857e-05	7.89e-05	0	2.246e-05	0	0	0	0	7.203e-06	0	0.0002	1.314e-05	1.313e-05	2.569e-05	0	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	0.644	0.04943	T	0.7	0.05727	T	0.003	0.11197	B	0.001	0.04355	B	0.813907	0.06844	N	1.101310	0.999716	0.20609	N	2.52	0.73523	M	2.33	0.16492	T	-0.02	0.07299	N	0.356	0.39760	-0.9451	0.41797	T	0.034	0.14464	T	10	0.075905055	0.11791	T	0.002797	0.05840	T	0.095	0.27398	0.35	0.34760	0.082315109003	0.07666	0.5047991917394284	0.50401	0.45656381799	0.45305	0.316335141659	0.12866	T	0.016244	0.13465	T	-0.337066	0.05594	T	-0.516442	0.20656	T	0.0407819567247152	0.03832	T	0.594241	0.21993	T	0.11599338	0.27365	0.09147283	0.21508	0.11599338	0.27365	0.09147283	0.21507	-6.86	0.53004	T	.	.	0.077	0.06205	B	.	.	1.257511	0.16549	12.61	0.65799001067388774	0.07875	0.45317	0.27512	N	AEFDBI	0.067477	0.13268	N	-0.593480760281434	0.19142	0.999501	-0.508464719802757	0.21923	1.188273	0.923606118345255	0.26749	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.62	3.63	0.40741	0.531000	0.22759	2.693000	0.34103	0.676000	0.76740	0.307000	0.25387	0.998000	0.33993	0.180000	0.21296	0.0:0.0:0.7164:0.2836	9.430	0.37765	698	0.58074	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1026.98	34	chr14	77253308	.	G	A	1026.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.980e-01;DP=770;ExcessHet=0.0000;FS=2.004;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.07;ReadPosRankSum=0.477;SOR=0.454	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1062	20	0	1	0
chr14	77378713	77378713	A	G	exonic	SAMD15	.	nonsynonymous SNV	SAMD15:NM_001010860:exon1:c.A1295G:p.Y432C,	.	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.994	D	0.667	P	.	.	1.000	N	1.385	L	2.0	T	-1.071	T	0.043	T	0.106	2.170	13.21	-4.39	-0.686	-0.125	0.322	0.077	.	7.7e-05	0.00299521	0.0019	0.0003	8.658e-05	0	0	0	0.0011	0.0137	0.00163	252	154602	rs192675089	0.0008	0.0008	0.0005	0.0011	0.0124	0.0008	0.0007	0.0117	0.0115	0.0002	8.967e-05	0	2.519e-05	0	0.0007	8.993e-06	0.0011	0.0124	0.0006	0.0006	0.0003	0.0009	0.0145	0.0005	0.0004	0.0118	0.0108	0.0003	0	0.0001	0	0	0	0	0	0.0005	0.0145	0.019	0.50132	D	0.146	0.32891	T	0.994	0.66517	D	0.667	0.53020	P	.	.	.	.	1	0.08975	N	1.525	0.38595	L	2.0	0.21473	T	-3.33	0.66206	D	0.141	0.14054	-1.0707	0.09260	T	0.043	0.18368	T	9	0.0038179755	0.00072	T	.	.	.	0.077	0.22490	.	.	0.104622674875	0.10061	0.12463284700741513	0.12389	0.100971721435	0.11407	0.316091239452	0.12828	T	0.034935	0.23521	T	-0.622762	0.00106	T	-0.6563	0.08518	T	0.0640731562898745	0.07793	T	0.556944	0.19352	T	0.08087367	0.18554	0.11866173	0.28643	0.08087367	0.18553	0.11866173	0.28642	-4.61	0.32297	T	.	.	0.161	0.35560	B	.	.	1.610988	0.20585	14.82	0.94941898800012947	0.25839	0.03760	0.09070	N	AEFBI	0.067227	0.13207	N	-0.775380945607062	0.13953	0.6912561	-1.01363337197613	0.09485	0.4721562	0.999963747275159	0.48965	0.553676	0.25195	0	0.588015	0.36545	0	0.577349	0.28860	0	0.567892	0.33627	0	.	.	4.95	-4.39	0.03360	0.288000	0.18695	-0.052000	0.12533	-0.083000	0.16234	0.000000	0.06391	0.000000	0.08366	0.045000	0.14751	0.2971:0.1474:0.2683:0.2873	0.322	0.00283	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1885.98	104	chr14	77378713	.	A	G	1885.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.54;DP=1808;ExcessHet=0.0000;FS=1.922;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.90;ReadPosRankSum=-9.620e-01;SOR=0.536	GT:AD:DP:GQ:PL	0/0:76,0:76:99:0,120,1800	20	0	1	0
chr14	77378751	77378751	A	C	exonic	SAMD15	.	nonsynonymous SNV	SAMD15:NM_001010860:exon1:c.A1333C:p.K445Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.005	B	0.003	B	.	.	1.000	N	-0.405	N	2.31	T	-0.958	T	0.012	T	0.029	-0.261	2.746	-5.18	-0.728	-0.135	1.322	0.003	0.00129422080529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.74e-06	2.736e-06	1.363e-06	4.131e-06	3.599e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	0.10588	T	0.622	0.07394	T	0.005	0.12996	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	-1.195	0.00846	N	2.31	0.16794	T	0.18	0.05035	N	0.03	0.00717	-0.9578	0.39589	T	0.012	0.04700	T	9	0.039794892	0.02496	T	0.001294	0.01784	T	0.003	0.00094	0.225	0.14960	0.0401082797425	0.02173	0.037046065735261834	0.03651	0.0786034928776	0.08843	0.269540280104	0.06081	T	8.89E-4	0.00449	T	-0.427716	0.01530	T	-0.852161	0.00933	T	0.0553427934646606	0.06414	T	0.392161	0.09760	T	0.046514843	0.07797	0.02912814	0.01218	0.046514843	0.07797	0.02912814	0.01218	-3.803	0.20849	T	.	.	0.113	0.22318	B	.	.	-0.319214	0.02533	0.303	0.37705487616312933	0.02500	0.00105	0.00673	N	AEFBI	0.018382	0.00553	N	-1.76050032756043	0.00649	0.02800778	-1.77651243004606	0.00837	0.03740407	0.99998959501685	0.51787	0.553676	0.25195	0	0.588015	0.36545	0	0.59043	0.30614	0	0.567892	0.33627	0	.	.	4.49	-5.18	0.02624	0.085000	0.14759	-0.289000	0.10208	-1.174000	0.01395	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2629:0.1816:0.3652:0.1903	1.322	0.01990	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2020.98	104	chr14	77378751	.	A	C	2020.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.540e-01;DP=1896;ExcessHet=0.0000;FS=2.656;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=0.178;SOR=0.901	GT:AD:DP:GQ:PL	0/1:87,83:170:99:2035,0,2208	20	0	1	0
chr14	77407535	77407535	C	T	exonic	NOXRED1	.	nonsynonymous SNV	NOXRED1:NM_001113475:exon3:c.G460A:p.V154I,	.	.	435	1048	39	0	0	39	0.018267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.005	B	0.001	B	0.633	N	1.000	N	0.945	L	0.99	T	-1.055	T	0.034	T	0.126	1.001	9.090	-11.5	-2.365	-1.600	0.813	0.038	.	0.0083	0.00419329	0.0066	0.0019	0.0041	0	0.0026	0.0097	0.0055	0.0043	0.0069663	1077	154602	rs141189280	0.0087	0.0088	0.0087	0.0088	0.0333	0.0086	0.0086	0.0294	0.0280	0.0016	0.0061	0.0110	0.0001	0.0020	0.0333	0.0098	0.0086	0.0053	0.0067	0.0067	0.0072	0.0061	0.0103	0.0063	0.0062	0.0096	0.0094	0.0018	0.0132	0.0076	0.0121	0.0002	0.0018	0.0476	0.0103	0.0099	0.0041	0.602	0.08787	T	0.248	0.23845	T	0.001	0.07471	B	0.001	0.04355	B	0.633464	0.05826	N	1.202330	1	0.08975	N	0.075	0.08292	N	0.99	0.41750	T	0.01	0.07736	N	0.111	0.09772	-1.0550	0.13040	T	0.034	0.14639	T	10	0.0045294464	0.00094	T	.	.	.	0.038	0.09825	.	.	0.21737058555	0.21362	0.2516836260169324	0.25082	0.118053165635	0.13290	0.226650893688	0.01729	T	0.020134	0.15906	T	-0.672006	0.00053	T	-0.727679	0.04433	T	0.00575182871688739	0.00063	T	0.424358	0.11346	T	0.030284833	0.02666	0.027110701	0.00840	0.030284833	0.02666	0.027110701	0.00840	-3.256	0.13176	T	.	.	0.081	0.08465	B	.;.	.;.	-1.197009	0.00533	0.012	0.77288193910196079	0.11814	0.03348	0.08433	N	AEFBHCI	0.028639	0.02560	N	-1.78900436564519	0.00572	0.02466229	-1.91754234181815	0.00452	0.01999623	0.999999999943413	0.74766	0.516011	0.20929	0	0.624146	0.53433	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.77	-11.5	0.00057	-1.268000	0.02944	-3.258000	0.02929	-0.854000	0.02687	0.000000	0.06391	0.000000	0.08366	0.769000	0.36481	0.26:0.2926:0.1298:0.3176	0.813	0.01027	923	0.18507	Pyrroline-5-carboxylate reductase, catalytic, N-terminal;Pyrroline-5-carboxylate reductase, catalytic, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	6248.68	141	chr14	77407535	.	C	T	6248.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.15;DP=1112;ExcessHet=0.3300;FS=0.527;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.61;ReadPosRankSum=0.411;SOR=0.748	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1421	18	0	3	0
chr14	77475921	77475921	G	A	exonic	ISM2	.	nonsynonymous SNV	ISM2:NM_199296:exon7:c.C1390T:p.R464C,	.	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.949	D	0.000	D	1.000	D	2.655	M	1.72	T	-0.578	T	0.228	T	0.511	2.731	15.09	4.85	2.247	2.882	13.007	0.289	0.0592546295789	0.0002	0.000998403	0.0008	0.0001	8.752e-05	0	0	0.0002	0.0012	0.0050	0.0006727	104	154602	rs202155629	0.0004	0.0004	0.0003	0.0006	0.0053	0.0004	0.0004	0.0049	0.0047	0	6.713e-05	0.0013	0	0	0.0012	8.905e-05	0.0006	0.0053	0.0003	0.0003	0.0002	0.0003	0.0046	0.0002	0.0002	0.0031	0.0026	7.216e-05	0	0	0.0012	0.0002	0	0	0.0001	0	0.0046	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.949	0.68658	D	0.000049	0.53742	D	0.119662	1	0.81001	D	2.44	0.70756	M	1.35	0.34648	T	-6.43	0.91311	D	0.538	0.56576	-0.5781	0.65692	T	0.228	0.59359	T	10	0.025726944	0.00758	T	0.059255	0.67601	D	0.289	0.60808	.	.	0.443388199986	0.43959	0.5617114619597344	0.56098	0.651761740419	0.58396	0.299870371819	0.10381	T	0.245535	0.61485	T	-0.368843	0.03653	T	-0.301641	0.44553	T	0.115834470832458	0.14017	T	0.873913	0.58386	D	0.45950755	0.64640	0.31265455	0.57266	0.45950755	0.64641	0.31265455	0.57265	-9.82	0.72827	D	.	.	0.258	0.49295	B	.	.	4.246816	0.64428	24.7	0.99913866907860416	0.98238	0.94339	0.60850	D	AEFDBI	0.676495	0.64152	D	0.51280523560312	0.67845	5.13645	0.408171735808453	0.62071	4.416779	0.999321837753103	0.39149	0.497415	0.19182	0	0.547309	0.14657	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	4.85	4.85	0.62375	3.695000	0.54481	3.395000	0.38093	0.676000	0.76740	1.000000	0.71638	0.998000	0.33993	0.008000	0.08271	0.0:0.0:0.8385:0.1615	13.007	0.58115	826	0.39940	AMOP domain|AMOP domain|AMOP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2127.98	42	chr14	77475921	.	G	A	2127.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.590e-01;DP=951;ExcessHet=0.0000;FS=2.284;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.89;ReadPosRankSum=-1.137e+00;SOR=0.514	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,108,1620	20	0	1	0
chr14	77478638	77478638	G	A	exonic	ISM2	.	nonsynonymous SNV	ISM2:NM_199296:exon5:c.C1051T:p.R351W,	.	.	.	.	.	.	.	.	.	.	.	2199487	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.003	N	1.000	D	.	.	-0.17	T	0.026	D	0.471	T	0.559	3.062	16.22	5.14	2.396	5.182	18.597	0.441	0.0923128771401	.	.	2.474e-05	0	0	0	0	4.5e-05	0	0	1.94e-05	3	154602	rs747609625	1.984e-05	2.121e-05	2.314e-05	1.65e-05	0.0010	1.392e-05	1.203e-05	0.0005	0.0003	0	0.0002	0	2.519e-05	0	0.0010	8.094e-06	6.624e-05	2.319e-05	2.63e-05	2.627e-05	1.285e-05	4.039e-05	4.411e-05	8.15e-06	5.14e-06	1.171e-05	6.25e-06	2.415e-05	0	0	0	0	0	0	4.411e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.994	0.82059	D	0.002991	0.35606	N	0.226724	0.999999	0.81001	D	.	.	.	-0.17	0.65563	T	-6.69	0.92433	D	0.711	0.71410	0.026	0.82772	D	0.471	0.79674	T	9	0.864162	0.85650	D	0.092313	0.75868	D	0.441	0.74447	.	.	0.556342864924	0.55293	0.6927989029883779	0.69219	0.569464043504	0.53127	0.265485644341	0.05561	T	0.173969	0.52302	T	-0.0753495	0.40467	T	-0.170164	0.57427	T	0.977763235569	0.72000	D	0.987301	0.95681	D	0.5542655	0.70193	0.61164284	0.77406	0.5542655	0.70194	0.61164284	0.77407	-11.21	0.80797	D	.	.	0.169	0.37235	B	.	.	4.189471	0.63134	24.5	0.99879048333613774	0.95572	0.96769	0.70840	D	AEFDGBI	0.732733	0.67939	D	0.383302677303129	0.60518	4.241475	0.270878946493208	0.53846	3.551677	0.999999747840092	0.74766	0.580535	0.33130	0	0.624146	0.53433	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.14	5.14	0.70008	5.278000	0.65401	2.161000	0.30982	0.672000	0.70159	0.999000	0.42656	0.167000	0.23311	0.033000	0.13494	0.0:0.0:1.0:0.0	18.597	0.91188	821	0.40814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	981.98	34	chr14	77478638	.	G	A	981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.174;DP=820;ExcessHet=0.0000;FS=2.250;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.59;ReadPosRankSum=-5.280e-01;SOR=0.381	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,104,1447	20	0	1	0
chr14	77482469	77482469	G	T	exonic	ISM2	.	nonsynonymous SNV	ISM2:NM_199296:exon4:c.C826A:p.P276T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.068	B	0.019	B	0.001	N	1.000	N	0.69	N	2.34	T	-1.016	T	0.035	T	0.079	0.257	5.388	-1.2	-0.114	0.283	4.226	0.024	0.00313732270443	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866927624	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.12837	T	0.56	0.09113	T	0.068	0.23728	B	0.009	0.14300	B	0.000830	0.00693	N	4.560390	1	0.08975	N	0.805	0.20218	L	2.01	0.21291	T	-1.19	0.30346	N	0.172	0.18376	-1.0157	0.25110	T	0.035	0.14943	T	10	0.05666408	0.06388	T	0.003137	0.06845	T	0.024	0.04979	0.172	0.07774	0.0297737177859	0.01360	0.04944865873291665	0.04887	0.145403873013	0.16431	0.208170905709	0.00736	T	0.001393	0.00857	T	-0.339996	0.05388	T	-0.726157	0.04503	T	0.39786621928215	0.28862	T	0.332967	0.07033	T	0.03959403	0.05495	0.041287348	0.04657	0.03959403	0.05495	0.041287348	0.04657	-2.959	0.09746	T	.	.	0.074	0.05145	B	.	.	0.359808	0.07324	3.939	0.14673125364902462	0.00332	0.13259	0.17754	N	AEFDBI	0.135594	0.25598	N	-1.14774272114342	0.05816	0.2661762	-1.18722573780502	0.06122	0.2937383	0.398284760484994	0.20108	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.01	-1.2	0.09062	0.294000	0.18803	0.054000	0.14040	-0.718000	0.03832	0.061000	0.21800	0.000000	0.08366	0.002000	0.04165	0.0803:0.3533:0.3469:0.2195	4.226	0.10034	810	0.42761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1564.98	39	chr14	77482469	.	G	T	1564.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.056e+00;DP=862;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=-1.210e+00;SOR=0.733	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1487	20	0	1	0
chr14	77907992	77907992	G	A	exonic	ADCK1	.	nonsynonymous SNV	ADCK1:NM_001366487:exon7:c.G931A:p.V311M,	.	.	417	1093	11	1	0	13	0.00591178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	.	.	.	.	.	.	.	.	0.0001552	24	154602	rs182512927	0.0012	0.0011	0.0009	0.0015	0.0079	0.0011	0.0011	0.0073	0.0071	0.0001	0.0002	0.0038	2.656e-05	9.768e-05	0.0034	0.0007	0.0012	0.0079	0.0008	0.0008	0.0008	0.0008	0.0070	0.0007	0.0006	0.0052	0.0045	0.0002	0	0.0004	0.0023	0	0	0.0034	0.0009	0	0.0070	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1032.98	35	chr14	77907992	.	G	A	1032.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.594e+00;DP=810;ExcessHet=0.0000;FS=2.641;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.13;ReadPosRankSum=-1.600e-01;SOR=0.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,99,1485	20	0	1	0
chr14	78297852	78297852	G	A	exonic	NRXN3	.	nonsynonymous SNV	NRXN3:NM_001330195:exon4:c.G749A:p.S250N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.457	T	0.373	T	0.265	1.329	10.36	6.02	2.865	5.815	17.697	0.077	.	.	.	7.053e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs746873335	3.613e-06	4.788e-06	1.426e-06	5.857e-06	5.049e-05	1.06e-06	7.7e-07	1.679e-05	9.94e-06	0	0	0	0	0	0	0	1.724e-05	5.049e-05	6.574e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.693	0.05863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.47487	-0.4570	0.70168	T	0.373	0.73190	T	4	0.2170158	0.38302	T	.	.	.	.	.	.	.	.	.	0.58544048292484	0.58473	.	.	.	.	.	0.003487	0.02889	T	.	.	.	.	.	.	.	.	.	0.762324	0.62461	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40618	B	.;.	.;.	3.614068	0.51109	23.0	0.90763606675286401	0.20013	0.96897	0.71537	D	AEFBI	0.600580	0.59316	D	0.471952315503581	0.65458	4.825172	0.577232011699918	0.73311	5.949721	0.999999782056204	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	6.02	6.02	0.97559	5.916000	0.69712	7.632000	0.62779	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.697	0.88190	743	0.52768	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	1084.5	165	chr14	78297852	.	G	A	1084.5	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-4.121e+00;DP=3392;ExcessHet=20.9642;FS=253.512;InbreedingCoeff=-0.6055;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=0.45;ReadPosRankSum=-1.140e-01;SOR=12.494	GT:AD:DP:GQ:PL	0/0:115,0:115:82:0,82,2081	5	0	16	0
chr14	79280502	79280502	A	G	exonic	NRXN3	.	nonsynonymous SNV	NRXN3:NM_001105250:exon1:c.A211G:p.I71V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.811	P	0.377	B	.	.	1.000	D	1.04	L	1.44	T	-1.101	T	0.082	T	0.392	3.005	16.02	6.02	2.311	7.028	15.116	0.114	0.0123158850353	0.0008	0.000199681	0.0001	0.0007	0	0	0.0006	5.994e-05	0.0011	0	0.00011	17	154602	rs151275223	4.722e-05	4.72e-05	4.494e-05	4.952e-05	0.0008	3.795e-05	3.477e-05	0.0005	0.0005	0.0008	2.236e-05	0	0	0.0003	0.0002	2.428e-05	0	0	0.0002	0.0002	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0003	0.0006	0	0.0001	0	0	0.0004	0	0.0001	0	0	0.057	0.37966	T	0.063	0.45110	T	0.19	0.45403	B	0.133	0.43762	B	.	.	.	.	1	0.81001	D	1.95	0.52479	M	1.37	0.35775	T	-0.12	0.08809	N	0.337	0.45709	-1.1009	0.03984	T	0.082	0.32178	T	8	0.060200423	0.07357	T	0.012316	0.30787	T	0.114	0.32008	.	.	0.0934897674506	0.08844	.	.	.	.	.	.	.	0.129314	0.45751	T	-0.339297	0.05436	T	-0.345658	0.39702	T	0.141672000288963	0.16418	T	0.928907	0.73860	D	.	.	.	.	.	.	.	.	-2.032	0.03304	T	0.15640891155536654	0.18815	0.250	0.53808	B	.;.;.	.;.;.	2.924596	0.38838	20.8	0.99733583868663933	0.82975	0.93189	0.57558	D	AEFBCI	0.832042	0.75048	D	0.297337609141693	0.56014	3.765547	0.446263536278231	0.64478	4.703829	0.999999999712914	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.606884	0.38211	0	0.56751	0.32155	0	.	.	6.02	6.02	0.97559	7.034000	0.76239	9.313000	0.79976	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.116	0.72075	873	0.30802	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2232.98	33	chr14	79280502	.	A	G	2232.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.641;DP=826;ExcessHet=0.0000;FS=1.494;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.92;ReadPosRankSum=-1.347e+00;SOR=0.883	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1259	20	0	1	0
chr14	80914338	80914338	G	A	exonic	CEP128	.	nonsynonymous SNV	CEP128:NM_152446:exon4:c.C218T:p.A73V,	.	.	425	1091	6	0	0	6	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.995	D	0.628	P	0.001	N	0.643	D	0.345	N	1.49	T	-1.126	T	0.005	T	0.628	3.638	18.50	5.15	2.548	6.230	15.903	0.167	.	0.0002	0.0147764	0.0064	0.0003	8.639e-05	0.0861	0	4.496e-05	0.0011	0.0013	0.0059167	154	26028	rs116769859	0.0024	0.0024	0.0024	0.0024	0.0753	0.0023	0.0023	0.0730	0.0721	0.0001	8.948e-05	0	0.0753	0	0.0003	4.68e-05	0.0049	0.0015	0.0028	0.0028	0.0025	0.0031	0.0724	0.0026	0.0025	0.0663	0.0639	0.0003	0	0.0010	0	0.0724	0	0	7.357e-05	0.0028	0.0023	0.253	0.21385	T	0.839	0.35840	T	0.987	0.67487	D	0.511	0.51677	P	0.001448	0.38980	N	0.164905	0.642855	0.32892	D	2.095	0.58118	M	1.49	0.45636	T	-1.37	0.74051	N	0.518	0.54845	-1.1257	0.01999	T	0.005	0.01833	T	10	0.0017378628	0.00022	T	.	.	.	0.167	0.42761	.	.	0.481246930725	0.47757	0.30553347982225343	0.30466	0.270010930718	0.29521	0.387776076794	0.23356	T	0.018784	0.19745	T	-0.386678	0.02826	T	-0.263982	0.48426	T	0.0160130281826876	0.00382	T	0.844016	0.53499	T	0.1275285	0.29840	0.12514852	0.30158	0.1275285	0.29839	0.12514852	0.30157	-6.63	0.54861	T	.	.	0.136	0.35643	B	.;.;.;.;.;.	.;.;.;.;.;.	6.567606	0.95415	35	0.99835602125602085	0.91714	0.94943	0.62871	D	AEFBI	0.622607	0.60687	D	0.202500772861817	0.51319	3.314201	0.321120566769074	0.56782	3.842172	0.99088673739326	0.32301	0.660377	0.49826	0	0.588015	0.36545	0	0.658983	0.55881	0	0.592323	0.36904	0	.	.	5.15	5.15	0.70287	5.989000	0.70262	11.718000	0.94767	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	15.903	0.79182	840	0.37365	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1310.98	34	chr14	80914338	.	G	A	1310.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.549;DP=854;ExcessHet=0.0000;FS=3.889;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.80;ReadPosRankSum=1.86;SOR=0.453	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1266	20	0	1	0
chr14	80916514	80916514	G	-	exonic	CEP128	.	frameshift deletion	CEP128:NM_152446:exon3:c.34delC:p.R12Afs*6,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.475e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs762242586	1.026e-05	1.026e-05	0	2.063e-05	0.0002	6.16e-06	4.89e-06	0.0001	8.647e-05	0	0	0	0	0	0	0	0	0.0002	6.571e-06	6.563e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1443.94	35	chr14	80916513	.	CG	C	1443.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.410e-01;DP=826;ExcessHet=0.0000;FS=2.495;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.56;ReadPosRankSum=-8.340e-01;SOR=0.973	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr14	81144351	81144351	T	G	exonic	TSHR	.	stoploss	TSHR:NM_000369:exon10:c.T2293G:p.X765E,	Hyperthyroidism, familial gestational;Hyperthyroidism, nonautoimmune, Autosomal dominant, Isolated cases;Hypothyroidism, congenital, nongoitrous, 1, Autosomal recessive;Thyroid adenoma, hyperfunctioning, somatic (3);Thyroid carcinoma with thyrotoxicosis (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	-0.327	2.448	5.1	2.052	5.413	13.429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.191	0.20925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.171681	0.24980	T	-0.484384	0.23981	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.494207	0.19214	14.15	0.83895426999960143	0.14980	0.98973	0.89386	D	AEFI	.	.	.	0.894178256369643	0.91473	10.90075	0.687759356750095	0.81450	7.52921	0.999995985158224	0.74766	0.074636	0.01641	0	0.084543	0.02171	0	0.060301	0.00762	0	0.057018	0.00518	0	0.917415	0.58164	5.1	5.1	0.68917	5.193000	0.64958	7.937000	0.75328	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.256000	0.23417	0.0:0.0:0.0:1.0	13.429	0.60491	798	0.45050	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02778	73.09	40	chr14	81144351	.	T	G	73.09	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-4.075e+00;DP=1286;ExcessHet=0.0000;FS=92.196;InbreedingCoeff=-0.0634;MLEAC=1;MLEAF=0.028;MQ=60.00;MQRankSum=0.00;QD=0.79;ReadPosRankSum=1.72;SOR=7.232	GT:AD:DP:GQ:PL	0/0:74,0:74:53:0,53,1412	17	0	1	3
chr14	81498041	81498041	T	C	exonic	SEL1L	.	nonsynonymous SNV	SEL1L:NM_005065:exon10:c.A979G:p.S327G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.009	B	0.007	B	0.000	D	1.000	D	1.175	L	1.51	T	-1.110	T	0.067	T	0.441	3.311	17.13	5.55	2.330	7.490	15.853	0.089	0.0097409858881	.	.	8.346e-06	0	0	0	0	0	0	6.269e-05	6.5e-06	1	154602	rs758543546	2.74e-06	2.736e-06	2.726e-06	2.754e-06	2.331e-05	6.4e-07	4.3e-07	3.87e-06	1.45e-06	0	2.26e-05	0	0	0	0	8.998e-07	0	2.331e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.181	0.29346	T	0.009	0.15093	B	0.007	0.12992	B	0.000000	0.84330	D	0.041854	1	0.81001	D	1.43	0.35840	L	1.51	0.30937	T	-1.73	0.41046	N	0.55	0.57604	-1.1102	0.03053	T	0.067	0.27434	T	10	0.23862216	0.40986	T	0.009741	0.25427	T	0.089	0.25827	0.361	0.36548	0.117191471859	0.11215	0.29633678364765675	0.29546	0.439996960147	0.44017	0.784582614899	0.79620	T	0.21204	0.57297	T	-0.165905	0.25855	T	-0.375458	0.36252	T	0.379170506543518	0.28151	T	0.909909	0.68110	D	0.27023587	0.50095	0.25670588	0.51375	0.27023587	0.50095	0.25670588	0.51374	-8.638	0.65339	D	.	.	0.101	0.17360	B	.	.	3.428120	0.47631	22.5	0.99469834997112316	0.66259	0.99734	0.99061	D	AEFBI	0.884688	0.81459	D	0.0523880511124764	0.44251	2.702674	0.252424865481983	0.52788	3.451253	0.999999896608693	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	5.955000	0.70026	7.870000	0.71911	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:0.0:1.0	15.853	0.78727	805	0.43675	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1094.98	33	chr14	81498041	.	T	C	1094.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.04;DP=772;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=-5.890e-01;SOR=0.744	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr14	85622171	85622171	G	C	exonic	FLRT2	.	nonsynonymous SNV	FLRT2:NM_001346143:exon2:c.G657C:p.K219N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.755	P	0.456	P	0.000	D	1.000	D	0.345	N	0.25	T	-1.051	T	0.104	T	0.166	0.689	7.680	4.57	2.722	3.496	6.852	0.098	0.0157335054179	7.7e-05	.	7.417e-05	0	8.637e-05	0	0	0	0	0.0005	5.82e-05	9	154602	rs149714285	4.994e-05	4.994e-05	3.948e-05	6.05e-05	0.0004	4.059e-05	3.734e-05	0.0003	0.0002	0	0.0003	0	0	0	0.0003	1.888e-05	8.279e-05	0.0004	2.629e-05	2.627e-05	2.57e-05	2.691e-05	0.0002	8.14e-06	5.14e-06	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	1.47e-05	0	0.0002	0.333	0.13003	T	0.295	0.20680	T	0.755	0.43381	P	0.456	0.46291	P	0.000000	0.84330	D	0.049490	0.999694	0.48338	D	0.525	0.13617	N	0.25	0.59449	T	-0.26	0.11185	N	0.338	0.41656	-1.0507	0.14203	T	0.104	0.38243	T	10	0.10742718	0.19953	T	0.015734	0.36624	T	0.098	0.28162	0.421	0.46365	0.630622388715	0.62760	0.5556161955407573	0.55488	0.402808575065	0.41226	0.671069383621	0.62990	T	0.037355	0.24446	T	-0.341579	0.05279	T	-0.417912	0.31316	T	0.07191655607894	0.08917	T	0.848615	0.53011	T	0.10897208	0.25763	0.09123627	0.21439	0.10897208	0.25763	0.09123627	0.21438	-2.508	0.05836	T	.	.	0.238	0.47195	B	.;.	.;.	2.932758	0.38970	20.9	0.97317475231053718	0.33360	0.91274	0.53204	D	AEFDGBHCI	0.567305	0.57294	D	0.150443897734432	0.48834	3.090752	0.274202224358857	0.54037	3.570054	0.999922748908921	0.46280	0.706548	0.73137	0	0.573888	0.26702	0	0.607057	0.38367	0	0.714379	0.83352	0	.	.	5.48	4.57	0.55860	3.665000	0.54270	1.052000	0.23646	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.2487:0.0:0.7513:0.0	6.852	0.23202	948	0.11499	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2647.98	40	chr14	85622171	.	G	C	2647.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.308e+00;DP=1363;ExcessHet=0.0000;FS=3.198;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=0.254;SOR=0.507	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr14	87934749	87934749	C	T	exonic	GALC	.	nonsynonymous SNV	GALC:NM_001201401:exon16:c.G1972A:p.V658M	Krabbe disease, Autosomal recessive	YES	1	1518	3	0	0	3	0.000987167	.	.	204567	Galactosylceramide_beta-galactosidase_deficiency|not_provided|not_specified|Inborn_genetic_diseases	MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200,Orphanet:487|MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.998	D	0.976	D	0.001	D	1.000	D	2.72	M	-3.56	D	1.005	D	0.898	D	0.9	3.067	16.24	4.69	2.788	1.761	10.701	0.714	0.305239335284	.	0.000199681	0.0002	0	0.0002	0.0008	0	3.003e-05	0	0.0006	0.0001358	21	154602	rs200607029	7.529e-05	7.524e-05	7.083e-05	7.98e-05	0.0007	6.385e-05	5.942e-05	0.0006	0.0005	0	0	7.667e-05	0.0004	0	0	1.979e-05	0.0002	0.0007	7.229e-05	7.219e-05	5.144e-05	9.408e-05	0.0008	3.972e-05	3.128e-05	0.0003	0.0002	0	0	0	0	0.0004	0	0	5.884e-05	0.0005	0.0008	0.002	0.72154	D	0.004	0.76473	D	0.998	0.73220	D	0.976	0.73562	D	0.000654	0.42656	D	0.218759	0.931983	0.81001	D	2.945	0.84822	M	-3.56	0.94869	D	-1.88	0.43906	N	0.79	0.78641	1.005	0.97279	D	0.898	0.96615	D	10	0.63925993	0.68961	D	0.305239	0.91012	D	0.714	0.89831	0.636	0.77251	0.955291583424	0.95482	0.879927747788902	0.87960	0.58156249449	0.53951	0.380543738604	0.22333	T	0.843247	0.96363	D	0.174935	0.71576	D	0.417908	0.92677	D	0.189370686986006	0.19807	T	0.908709	0.67605	D	0.1294474	0.30233	0.17459469	0.39867	0.123469144	0.28990	0.19273944	0.42803	-6.612	0.53358	T	0.4220926189515186	0.51071	0.251	0.54933	B	.;.;.	.;.;.	4.145771	0.62150	24.4	0.9987529649400313	0.95244	0.65539	0.32771	D	AEFI	0.089598	0.18161	N	0.647091159752438	0.76180	6.439229	0.572622235894489	0.72983	5.896808	0.755474310927353	0.23426	0.706298	0.61202	0	0.633656	0.55848	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.6	4.69	0.58546	1.532000	0.35634	2.058000	0.30379	0.599000	0.40250	0.825000	0.30060	0.965000	0.29475	0.451000	0.27917	0.0:0.8488:0.0:0.1512	10.701	0.45123	904	0.23766	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1027.98	34	chr14	87934749	.	C	T	1027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.49;DP=807;ExcessHet=0.0000;FS=3.762;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.98;ReadPosRankSum=-5.000e-02;SOR=1.083	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1229	20	0	1	0
chr14	87947880	87947880	T	G	splicing	GALC	NM_000153:exon13:c.1339-2A>C;NM_001201402:exon13:c.1261-2A>C;NM_001201401:exon12:c.1270-2A>C	.	.	Krabbe disease, Autosomal recessive	YES	.	.	.	.	.	.	.	1.0000	0.804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.317	10.32	3.66	2.343	1.628	8.987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.048355	0.96078	35	0.96312423662121505	0.29387	0.90279	0.51329	D	AEFBI	.	.	.	0.834703617961455	0.88221	9.49745	0.637691033602847	0.77695	6.729492	0.662390159466227	0.22285	0.088506	0.02282	0	0.096993	0.02736	0	0.060301	0.00762	0	0.057018	0.00518	0	0.774629	0.45842	6.11	3.66	0.41111	2.105000	0.41449	7.874000	0.72122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.337000	0.25363	0.1223:0.0:0.127:0.7507	8.987	0.35161	920	0.19381	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	935.62	37	chr14	87947880	.	T	G	935.62	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-1.210e+00;DP=599;ExcessHet=6.5132;FS=356.125;InbreedingCoeff=-0.3595;MLEAC=11;MLEAF=0.289;MQ=60.00;MQRankSum=0.00;QD=2.47;ReadPosRankSum=1.35;SOR=9.869	GT:AD:DP:GQ:PL	./.:22,0:22:0:0,0,391	9	0	10	2
chr14	88469073	88469073	T	A	exonic	PTPN21	.	nonsynonymous SNV	PTPN21:NM_007039:exon18:c.A3239T:p.Y1080F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.985	D	0.848	P	0.000	D	1.000	D	-0.98	N	3.0	T	-0.959	T	0.020	T	0.633	1.176	9.785	5.9	2.263	6.082	16.322	0.306	0.0147054395236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.813	0.03013	T	0.523	0.19304	T	0.985	0.61118	D	0.848	0.60574	P	0.000000	0.84330	D	0.000000	0.999847	0.49770	D	-2.3	0.00097	N	3.0	0.09167	T	-0.88	0.38540	N	0.529	0.62781	-0.9593	0.39311	T	0.020	0.08266	T	10	0.2675118	0.44264	T	0.014705	0.35003	T	0.306	0.62729	0.634	0.77032	0.454054078574	0.45028	.	.	0.967044701673	0.73226	0.830655813217	0.86662	D	0.088294	0.38126	T	-0.0898529	0.38101	T	-0.366844	0.37258	T	0.711248159408569	0.41261	D	0.908309	0.83814	D	0.2557414	0.48610	0.12113398	0.29228	0.2557414	0.48610	0.12113398	0.29228	-6.701	0.51818	T	.	.	0.126	0.35951	B	.;.;.	.;.;.	4.116285	0.61489	24.3	0.78995596577612581	0.12544	0.99099	0.91210	D	AEFDBI	0.730652	0.67797	D	0.0609757330364375	0.44648	2.735089	0.180668777996559	0.48789	3.090127	0.999999999999991	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	6.081000	0.70951	6.064000	0.53197	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.430000	0.27449	0.0:0.0:0.0:1.0	16.322	0.82788	651	0.62880	PTP type protein phosphatase|PTP type protein phosphatase|Tyrosine specific protein phosphatases domain|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic;PTP type protein phosphatase|PTP type protein phosphatase|Tyrosine specific protein phosphatases domain|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic;PTP type protein phosphatase|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1407.98	33	chr14	88469073	.	T	A	1407.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.43;DP=791;ExcessHet=0.0000;FS=0.946;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.60;ReadPosRankSum=0.445;SOR=0.892	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr14	88469531	88469531	T	G	exonic	PTPN21	.	nonsynonymous SNV	PTPN21:NM_007039:exon17:c.A3203C:p.H1068P,	.	.	325	1191	6	0	0	6	0.00251256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.995	D	0.997	D	0.000	D	1.000	D	3.925	H	2.36	T	-0.402	T	0.208	T	0.946	4.635	25.4	5.68	2.170	8.027	15.925	0.649	0.0262657583667	0.0002	0.000199681	0.0003	0	0	0	0	0.0004	0	0.0002	0.0003105	48	154602	rs201610603	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0005	0.0005	8.961e-05	4.472e-05	0	0	1.872e-05	0.0002	0.0005	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	0.0001	0	0	0	0	0	0	0.0005	0.0005	0.0004	0.01	0.78490	D	0.004	0.74150	D	0.995	0.67487	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999992	0.58761	D	2.62	0.76659	M	2.36	0.16089	T	-6.21	0.96166	D	0.881	0.87917	-0.4016	0.71976	T	0.208	0.56744	T	10	0.6542381	0.69780	D	0.026266	0.49189	D	0.649	0.86736	.	.	0.731225680256	0.72883	.	.	1.31115989583	0.83227	0.709154486656	0.68471	T	0.641023	0.88992	D	-0.0104207	0.50207	T	0.105836	0.77296	D	0.54001647233963	0.34104	D	0.940606	0.90119	D	0.951381	0.96406	0.9142074	0.95987	0.951381	0.96407	0.9142074	0.95988	-15.106	0.96095	D	.	.	0.431	0.65430	A	.;.;.	.;.;.	4.996804	0.82880	27.9	0.98373736511344567	0.40781	0.98821	0.87296	D	AEFDBI	0.961806	0.98318	D	0.981067423692302	0.95133	13.33813	0.897394452104336	0.95458	13.64106	0.999999999995112	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	8.004000	0.88060	7.871000	0.71963	0.645000	0.52629	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:0.0:0.0:1.0	15.925	0.79395	651	0.62880	PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1873.98	39	chr14	88469531	.	T	G	1873.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.287;DP=845;ExcessHet=0.0000;FS=0.758;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.62;ReadPosRankSum=-3.990e-01;SOR=0.612	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1352	20	0	1	0
chr14	88618733	88618733	-	G	exonic	EML5	.	frameshift insertion	EML5:NM_001385116:exon39:c.5445dupC:p.T1816Hfs*3	.	.	437	1082	3	0	0	3	0.0013844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	755.94	33	chr14	88618733	.	T	TG	755.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.816;DP=791;ExcessHet=0.0000;FS=5.519;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.04;ReadPosRankSum=-2.078e+00;SOR=1.322	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr14	88840883	88840883	A	G	exonic	TTC8	.	nonsynonymous SNV	TTC8:NM_001366535:exon3:c.A254G:p.K85R	Bardet-Biedl syndrome 8, Autosomal recessive	.	0	1473	45	4	0	53	0.0176726	.	.	193761	not_specified|Bardet-Biedl_syndrome_8|not_provided|Bardet-Biedl_syndrome|Retinitis_pigmentosa	MedGen:CN169374|MONDO:MONDO:0014436,MedGen:C1859566,OMIM:615985,Orphanet:110|MedGen:C3661900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.73	T	0.865	P	0.824	P	0.000	D	1.000	D	0.29	N	-1.02	T	-0.968	T	0.106	T	0.372	1.455	10.81	5.09	1.903	4.963	14.859	0.138	.	0.0032	0.0071885	0.0059	0.0006	0.0030	0	0.0005	0.0040	0.0122	0.0240	0.005595	865	154602	rs150880478	0.0047	0.0047	0.0040	0.0053	0.0232	0.0046	0.0045	0.0223	0.0220	0.0005	0.0035	0.0008	0	0.0006	0.0177	0.0038	0.0050	0.0232	0.0035	0.0035	0.0034	0.0036	0.0263	0.0033	0.0032	0.0226	0.0212	0.0007	0	0.0042	0.0014	0	0.0006	0.0238	0.0042	0.0057	0.0263	0.574	0.08660	T	1.0	0.08808	T	0.003	0.12996	B	0.003	0.16862	B	0.000000	0.84330	D	0.048705	0.998721	0.81001	D	0.63	0.15941	N	-1.07	0.76948	T	-0.35	0.17210	N	0.13	0.24135	-0.9675	0.37713	T	0.106	0.38734	T	10	0.007837504	0.00178	T	.	.	.	0.349	0.67049	.	.	0.815756240397	0.81402	0.32855384335387705	0.32768	0.469398045918	0.46249	0.551525473595	0.46072	T	0.04129	0.25811	T	-0.327425	0.06309	T	-0.225514	0.52205	T	0.0430550078249923	0.04247	T	0.871513	0.70013	D	.	.	.	.	.	.	.	.	-3.003	0.10213	T	.	.	0.066	0.04002	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.496810	0.32224	18.98	0.98253644681263119	0.39594	0.87280	0.46771	D	AEFDGBI	0.523395	0.54702	D	0.121874717811164	0.47484	2.973543	0.232126589072069	0.51640	3.344667	0.999999556930636	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.09	5.09	0.68647	4.991000	0.63616	9.335000	0.80166	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	14.859	0.69997	410	0.82135	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	7561.11	33	chr14	88840883	.	A	G	7561.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.54;DP=1280;ExcessHet=0.1072;FS=1.769;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=-8.740e-01;SOR=0.567	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1276	19	0	2	0
chr14	89162742	89162750	CCCTCGCTG	-	exonic	FOXN3	.	nonframeshift deletion	FOXN3:NM_005197:exon6:c.1071_1079del:p.E359_S361del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0026	.	0.0011	0.0002	0	0	0.0005	0.0018	0	6.08e-05	0.0001537	4	26028	rs533857726	0.0018	0.0018	0.0018	0.0018	0.0022	0.0017	0.0017	0.0021	0.0021	0.0002	0.0002	0.0012	2.52e-05	0.0006	0.0002	0.0022	0.0010	2.319e-05	0.0013	0.0014	0.0016	0.0011	0.0026	0.0012	0.0011	0.0022	0.0021	0.0003	0	0.0003	0.0014	0	0.0005	0	0.0026	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2350.94	33	chr14	89162741	.	CCCCTCGCTG	C	2350.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.870e-01;DP=831;ExcessHet=0.0000;FS=4.115;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.68;ReadPosRankSum=-1.678e+00;SOR=0.667	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1371	20	0	1	0
chr14	89991922	89991922	G	A	exonic	TDP1	.	nonsynonymous SNV	TDP1:NM_001008744:exon12:c.G1372A:p.G458S	Spinocerebellar ataxia, autosomal recessive with axonal neuropathy	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.953	P	0.843	P	0.000	D	1.000	D	1.415	L	0.77	T	-0.810	T	0.196	T	0.725	4.225	22.0	5.05	1.512	8.246	13.812	0.315	0.0346427729364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.871e-07	1.368e-06	0	1.382e-06	2.996e-05	0	0	.	.	2.996e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.39820	T	0.185	0.30339	T	0.92	0.54283	P	0.843	0.60313	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.095	0.58118	M	0.77	0.49642	T	-2.74	0.58248	D	0.94	0.95021	-0.8101	0.54544	T	0.196	0.55013	T	10	0.80729115	0.80054	D	0.034643	0.55817	D	0.315	0.63694	.	.	0.579495267905	0.57620	0.8718334780072311	0.87149	0.439420418319	0.43970	0.671778559685	0.63091	T	0.262394	0.63396	T	0.103675	0.64687	D	-0.0888541	0.64248	T	0.977716147899628	0.71976	D	0.968503	0.91916	D	0.5965228	0.72504	0.29834586	0.55868	0.5965228	0.72505	0.29834586	0.55868	-12.371	0.86611	D	0.3423462270655001	0.44003	0.396	0.59375	A	.;.;.;.	.;.;.;.	5.124072	0.85718	28.7	0.99802381438561971	0.88728	0.97905	0.78016	D	AEFBI	0.877559	0.80228	D	0.540102928425762	0.69482	5.363079	0.587682634097533	0.74054	6.072536	0.999996737355721	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.94	5.05	0.67566	8.477000	0.90268	11.746000	0.95299	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0743:0.0:0.9257:0.0	13.812	0.62760	969	0.06854	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	512.98	33	chr14	89991922	.	G	A	512.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.82;DP=726;ExcessHet=0.0000;FS=1.279;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.50;ReadPosRankSum=-4.240e-01;SOR=0.976	GT:AD:DP:GQ:PL	0/1:20,18:38:99:527,0,432	20	0	1	0
chr14	90301265	90301265	C	T	exonic	NRDE2	.	nonsynonymous SNV	NRDE2:NM_017970:exon7:c.G1519A:p.V507M,	.	.	428	1069	25	0	0	25	0.011558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.997	D	0.000	D	1.000	D	1.905	M	1.31	T	-0.789	T	0.160	T	0.683	3.285	17.03	4.91	1.445	4.631	17.052	0.287	.	0.0051	0.00479233	0.0047	0.0011	0.0029	0	0.0012	0.0062	0.0077	0.0063	0.004683	724	154602	rs79341977	0.0063	0.0063	0.0062	0.0064	0.0073	0.0062	0.0061	0.0072	0.0071	0.0012	0.0029	3.828e-05	7.557e-05	0.0006	0.0054	0.0073	0.0054	0.0057	0.0041	0.0041	0.0045	0.0038	0.0072	0.0039	0.0038	0.0067	0.0065	0.0015	0	0.0027	0	0	0.0003	0	0.0072	0.0014	0.0054	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.84330	D	0.000000	0.999999	0.58761	D	2.435	0.70606	M	1.31	0.35405	T	-0.86	0.36385	N	0.676	0.68342	-0.7888	0.55800	T	0.160	0.49463	T	10	0.008894891	0.00201	T	.	.	.	0.287	0.60574	.	.	0.647120189699	0.64419	0.5391645190508904	0.53841	0.396982738473	0.40801	0.526302278042	0.42514	T	0.01487	0.12581	T	-0.28588	0.10053	T	-0.178296	0.56681	T	0.0269564637618081	0.01537	T	0.956304	0.86183	D	0.17649929	0.38565	0.16566095	0.38311	0.17649929	0.38565	0.16566095	0.38311	-8.343	0.63384	D	.	.	0.259	0.53868	B	.;.	.;.	3.938548	0.57613	23.9	0.99892803870728586	0.96666	0.97628	0.76007	D	AEFDBCI	0.536387	0.55462	D	0.33904798678388	0.58165	3.987117	0.288415224318062	0.54861	3.650076	0.999999938239116	0.74766	0.660377	0.49826	0	0.653731	0.59785	0	0.696353	0.63694	0	0.662433	0.64102	0	.	.	5.8	4.91	0.63897	4.727000	0.61687	4.802000	0.44976	-0.187000	0.09635	1.000000	0.71638	1.000000	0.68203	0.170000	0.20979	0.0:0.873:0.127:0.0	17.052	0.86394	926	0.17793	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2175.98	47	chr14	90301265	.	C	T	2175.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.820e-01;DP=983;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.44;ReadPosRankSum=-2.070e-01;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:54,0:54:99:.:.:0,120,1800	20	0	1	0
chr14	91199818	91199818	G	A	exonic	DGLUCY	.	nonsynonymous SNV	DGLUCY:NM_001102368:exon11:c.G1357A:p.A453T	.	.	427	1080	15	0	0	15	0.00689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.92	P	0.453	P	0.001	N	1.000	N	1.43	L	2.23	T	-1.061	T	0.009	T	0.306	1.106	9.512	-0.083	-0.328	2.621	4.371	0.072	.	0.0004	0.0205671	0.0111	0.0006	0.0006	0.0769	0	8.99e-05	0.0077	0.0394	0.009974	1542	154602	rs114411077	0.0049	0.0049	0.0038	0.0060	0.0798	0.0048	0.0048	0.0775	0.0766	0.0005	0.0002	0	0.0798	0	0.0019	6.475e-05	0.0074	0.0401	0.0045	0.0046	0.0033	0.0058	0.0781	0.0042	0.0041	0.0718	0.0693	0.0009	0	0.0018	0	0.0781	0	0	7.351e-05	0.0052	0.0427	0.124	0.27426	T	0.738	0.07105	T	0.084	0.25884	B	0.028	0.24832	B	0.000714	0.42254	N	0.270289	1	0.08975	N	.	.	.	2.23	0.18083	T	-1.74	0.41809	N	0.279	0.34012	-1.0614	0.11410	T	0.009	0.03183	T	10	0.0037378073	0.00069	T	.	.	.	0.072	0.21020	.	.	.	.	0.8095712159820677	0.80912	0.130808477754	0.14758	.	.	.	0.028224	0.20494	T	-0.564384	0.00239	T	-0.514056	0.20900	T	0.015212250864031	0.00334	T	0.826617	0.54490	T	0.0244838	0.01285	0.049020838	0.07404	0.0244838	0.01285	0.049020838	0.07403	-6.721	0.73588	T	.	.	0.275	0.57695	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.918439	0.24368	16.37	0.97925090518359759	0.36914	0.73035	0.35731	D	AEFDBI	0.090541	0.18345	N	-0.562280617518052	0.20100	1.057143	-0.659601785264983	0.17974	0.9581703	0.473240990626478	0.20725	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.05	-0.0833	0.13029	2.877000	0.48205	0.125000	0.14969	-0.159000	0.11634	0.979000	0.35152	0.000000	0.08366	0.004000	0.06068	0.214:0.0:0.5156:0.2704	4.371	0.10683	905	0.23532	.;.;.;.;Domain of unknown function DUF4392;Domain of unknown function DUF4392;Domain of unknown function DUF4392;Domain of unknown function DUF4392;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1463.98	37	chr14	91199818	.	G	A	1463.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.372e+00;DP=804;ExcessHet=0.0000;FS=1.771;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.27;ReadPosRankSum=1.03;SOR=0.976	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1247	20	0	1	0
chr14	91277938	91277938	C	T	exonic	CCDC88C	.	nonsynonymous SNV	CCDC88C:NM_001080414:exon29:c.G5042A:p.R1681H,	Hydrocephalus, nonsyndromic, autosomal recessive, Autosomal recessive	.	3	1518	1	0	0	1	0.000329272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.781	P	0.009	U	0.999	N	1.995	M	2.39	T	-0.899	T	0.184	T	0.363	2.815	15.38	3.7	0.682	1.609	7.083	0.151	0.0200855166258	8.1e-05	.	9.36e-05	0	0	0	0	0.0002	0	0	1.94e-05	3	154602	rs375999190	0.0001	0.0001	9.773e-05	0.0001	0.0002	9.219e-05	8.648e-05	0.0001	0.0001	3.234e-05	0	0	0	0	0.0002	0.0001	0.0002	0	3.285e-05	3.283e-05	5.138e-05	1.345e-05	5.88e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	2.412e-05	0	0	0	0	0	0	5.88e-05	0	0	0.015	0.52492	D	0.113	0.51421	T	0.905	0.49920	P	0.38	0.43842	B	0.008922	0.30598	U	0.141496	0.999588	0.20930	N	2.425	0.70256	M	0.71	0.51228	T	-3.39	0.66896	D	0.52	0.55019	-0.8992	0.48074	T	0.184	0.53300	T	10	0.27982473	0.45556	T	0.020086	0.42610	T	0.151	0.39764	.	.	0.585017178307	0.58175	0.1990977052967227	0.19826	0.519359975505	0.49760	0.353462696075	0.18431	T	0.149015	0.48783	T	-0.0882469	0.38366	T	-0.364537	0.37527	T	0.640618145465851	0.38063	D	0.89951	0.64815	D	0.048703883	0.08532	0.053532556	0.09036	0.048703883	0.08532	0.053532556	0.09036	-5.176	0.38697	T	.	.	0.103	0.18539	B	.;.	.;.	2.627358	0.34156	19.55	0.99787641977589447	0.87396	0.82171	0.41440	D	AEFGBIJ	0.128911	0.24688	N	0.00666735928331633	0.42159	2.534881	-0.0401906372680236	0.37918	2.226702	0.999985083337513	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.55	3.7	0.41607	1.812000	0.38590	0.388000	0.17857	-0.189000	0.09497	0.889000	0.31176	0.025000	0.21018	0.002000	0.04165	0.1315:0.674:0.1265:0.068	7.083	0.24420	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1014.98	34	chr14	91277938	.	C	T	1014.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.891e+00;DP=837;ExcessHet=0.0000;FS=3.658;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=0.430;SOR=0.320	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1620	20	0	1	0
chr14	91278128	91278128	G	A	exonic	CCDC88C	.	nonsynonymous SNV	CCDC88C:NM_001080414:exon29:c.C4852T:p.R1618W,	Hydrocephalus, nonsyndromic, autosomal recessive, Autosomal recessive	.	1	1511	10	0	0	10	0.00329815	.	.	725854	Inborn_genetic_diseases|CCDC88C-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.119	B	0.029	B	0.021	U	1.000	N	1.385	L	2.34	T	-0.976	T	0.099	T	0.223	0.879	8.567	4.05	1.086	0.917	7.383	0.061	0.0134613910287	.	0.000199681	0.0011	0.0002	0.0002	0	0	0.0002	0	0.0069	0.0008085	125	154602	rs573820836	0.0007	0.0007	0.0005	0.0009	0.0071	0.0007	0.0007	0.0066	0.0064	2.988e-05	6.717e-05	0	0.0001	3.762e-05	0.0030	0.0003	0.0007	0.0071	0.0004	0.0004	0.0003	0.0005	0.0066	0.0003	0.0003	0.0048	0.0042	9.62e-05	0	0	0	0	0	0	0.0003	0.0005	0.0066	0.003	0.68238	D	0.041	0.53788	D	0.009	0.15093	B	0.001	0.04355	B	0.021162	0.26887	U	0.178377	0.992863	0.23812	N	2.36	0.67893	M	0.7	0.51474	T	-2.96	0.61722	D	0.365	0.40665	-0.9759	0.35926	T	0.099	0.36856	T	10	0.003807038	0.00071	T	0.013461	0.32880	T	0.061	0.17616	0.327	0.31034	0.549290840505	0.54585	0.3476530149903494	0.34679	0.135941461379	0.15331	0.41852670908	0.27634	T	0.146126	0.48583	T	-0.49284	0.00627	T	-0.477678	0.24694	T	0.0261608245400736	0.01428	T	0.793221	0.43505	T	0.048088975	0.08327	0.046315424	0.06427	0.045137677	0.07335	0.050512742	0.07942	-6.16	0.47598	T	.	.	0.091	0.17657	B	.;.	.;.	1.193358	0.15847	12.15	0.96581142752854221	0.30333	0.81608	0.40978	D	AEFDBI	0.262278	0.38005	N	-0.576846034268236	0.19649	1.030053	-0.498669417426254	0.22191	1.204078	0.999999968003431	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.94	4.05	0.46415	0.392000	0.20527	0.775000	0.21430	-0.968000	0.01952	0.435000	0.26448	0.000000	0.08366	0.008000	0.08271	0.0781:0.0:0.6365:0.2854	7.383	0.26039	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1842.98	34	chr14	91278128	.	G	A	1842.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.626;DP=894;ExcessHet=0.0000;FS=2.224;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.86;ReadPosRankSum=-1.003e+00;SOR=0.955	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1620	20	0	1	0
chr14	91313430	91313430	G	A	exonic	CCDC88C	.	nonsynonymous SNV	CCDC88C:NM_001080414:exon15:c.C2386T:p.R796C,	Hydrocephalus, nonsyndromic, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1896057	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.966	D	0.462	P	0.219	U	1.000	D	0.69	N	2.45	T	-1.117	T	0.035	T	0.15	3.296	17.07	3.19	0.500	1.504	12.248	0.084	0.0201088312853	0.0002	0.00119808	0.0004	0.0003	0	0.0002	0	1.592e-05	0	0.0026	0.0003493	54	154602	rs372425024	0.0002	0.0002	7.662e-05	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	0.0001	0	3.83e-05	0.0002	2.116e-05	0.0002	4.498e-06	6.632e-05	0.0024	0.0002	0.0002	0.0002	0.0002	0.0031	0.0001	0.0001	0.0019	0.0015	0.0002	0	6.538e-05	0	0.0002	0	0	1.47e-05	0	0.0031	0.004	0.65419	D	0.031	0.53788	D	0.966	0.56202	D	0.462	0.46509	P	0.218724	0.16189	U	0.479009	0.841894	0.35080	D	1.245	0.31408	L	2.45	0.15028	T	-3.2	0.64710	D	0.329	0.36989	-1.1170	0.02531	T	0.035	0.15074	T	10	0.009217441	0.00208	T	0.020109	0.42635	T	0.084	0.24469	.	.	0.544694838355	0.54123	0.13105521680799925	0.13030	0.373316049332	0.38799	0.361972868443	0.19674	T	0.159548	0.50303	T	-0.548198	0.00299	T	-0.566082	0.15810	T	0.120197781471755	0.14450	T	0.917308	0.70348	D	0.13160464	0.30671	0.12832913	0.30877	0.13160464	0.30671	0.12832913	0.30876	-7.519	0.57744	D	.	.	0.095	0.14842	B	.	.	3.581599	0.50496	23.0	0.99895589365529125	0.96895	0.90465	0.51663	D	AEFBI	0.395893	0.47258	N	0.0576891050861872	0.44496	2.722669	0.0805587703379823	0.43573	2.656169	0.980140119628749	0.30103	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.29	3.19	0.35720	1.516000	0.35463	1.262000	0.25237	0.575000	0.29119	0.984000	0.35821	0.836000	0.27257	0.746000	0.35646	0.0:0.0:0.487:0.513	12.248	0.53898	834	0.38640	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	895.98	33	chr14	91313430	.	G	A	895.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.075;DP=858;ExcessHet=0.0000;FS=6.483;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.24;ReadPosRankSum=0.106;SOR=0.677	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1370	20	0	1	0
chr14	91325981	91325981	G	A	exonic	CCDC88C	.	nonsynonymous SNV	CCDC88C:NM_001080414:exon11:c.C1126T:p.R376W,	Hydrocephalus, nonsyndromic, autosomal recessive, Autosomal recessive	.	0	1516	6	0	0	6	0.00197498	.	.	429607	not_specified|not_provided	MedGen:CN169374|MedGen:CN517202	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.978	D	0.88	P	0.001	U	1.000	D	2.965	M	0.33	T	-0.072	T	0.389	T	0.79	3.630	18.46	3.18	2.442	6.140	13.939	0.367	0.121908679267	.	.	0.0001	0	0	0	0	0.0003	0	0	5.17e-05	8	154602	rs754564295	4.798e-05	5.199e-05	4.965e-05	4.627e-05	0.0003	3.856e-05	3.533e-05	6.117e-05	3.783e-05	3.024e-05	0	0	2.577e-05	1.925e-05	0.0003	5.274e-05	8.393e-05	1.207e-05	3.288e-05	3.284e-05	2.571e-05	4.039e-05	7.349e-05	1.262e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	0.978	0.58756	D	0.88	0.62516	P	0.000627	0.42799	U	0.000000	1	0.81001	D	2.405	0.69568	M	0.33	0.58323	T	-6.67	0.92346	D	0.75	0.74918	-0.0723	0.80727	T	0.389	0.74357	T	10	0.8677491	0.86026	D	0.121909	0.80277	D	0.367	0.68670	0.663	0.80098	0.761946902992	0.75977	0.5549353555968913	0.55420	0.613478281511	0.55912	0.729620575905	0.71451	T	0.146395	0.48398	T	0.0435939	0.57515	T	0.019814	0.71619	D	0.949446082115173	0.63115	D	0.955104	0.82903	D	0.3829317	0.59528	0.39816186	0.64412	0.3829317	0.59528	0.39816186	0.64412	-11.598	0.82838	D	.	.	0.739	0.74599	P	.	.	4.999442	0.82944	27.9	0.99898690207399499	0.97124	0.93411	0.58145	D	AEFDBHCIJ	0.751892	0.69256	D	0.621944292851058	0.74564	6.154215	0.507410391796775	0.68489	5.226947	0.999999999942949	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.662433	0.64102	0	.	.	5.22	3.18	0.35615	6.275000	0.72616	6.473000	0.55719	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.011000	0.09372	0.0:0.0:0.7479:0.2521	13.939	0.63554	775	0.48401	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2684.98	33	chr14	91325981	.	G	A	2684.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.12;DP=929;ExcessHet=0.0000;FS=2.351;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=-1.193e+00;SOR=0.532	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr14	91339397	91339397	C	A	exonic	CCDC88C	.	nonsynonymous SNV	CCDC88C:NM_001080414:exon8:c.G690T:p.K230N,	Hydrocephalus, nonsyndromic, autosomal recessive, Autosomal recessive	.	1	1515	6	0	0	6	0.00197628	.	.	2876015	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.35	T	0.336	B	0.148	B	0.185	U	1.000	N	0.84	L	0.92	T	-1.075	T	0.066	T	0.041	0.432	6.347	3.26	2.456	1.263	8.099	0.051	0.0242770888536	.	.	0.0002	0	0	0	0	0	0	0.0013	0.0001423	22	154602	rs774853335	9.513e-05	9.645e-05	3.949e-05	0.0002	0.0015	8.205e-05	7.72e-05	0.0013	0.0012	0	0	0	0	0	0.0005	8.996e-07	9.94e-05	0.0015	3.287e-05	3.284e-05	1.285e-05	5.384e-05	0.0008	1.261e-05	7.98e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.47e-05	0	0.0008	0.193	0.20912	T	0.177	0.29740	T	0.336	0.33356	B	0.148	0.34065	B	0.185114	0.16997	U	0.494203	1	0.08975	N	1.2	0.30300	L	0.92	0.44461	T	-2.15	0.48687	N	0.413	0.45331	-1.0749	0.08369	T	0.066	0.27121	T	10	0.024396598	0.00669	T	0.024277	0.47266	T	0.051	0.14325	0.435	0.48664	0.442261297928	0.43845	0.17738444704325287	0.17657	0.472557916991	0.46495	0.413896203041	0.26995	T	0.031616	0.22120	T	-0.622434	0.00106	T	-0.691487	0.06303	T	0.0528517668626481	0.05994	T	0.256674	0.04023	T	0.09529641	0.22423	0.07720144	0.17176	0.09713975	0.22892	0.10343219	0.24817	-3.345	0.14325	T	.	.	0.230	0.46320	B	.	.	2.278986	0.29141	18.03	0.97894994287727344	0.36697	0.49493	0.28446	N	AEFDBCI	0.209093	0.33511	N	-0.460351812098027	0.23390	1.255761	-0.432914896617475	0.24037	1.314102	0.999571758709782	0.40495	0.744818	0.98587	0	0.702456	0.74545	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.25	3.26	0.36471	1.378000	0.33935	1.618000	0.27672	0.599000	0.40250	0.002000	0.15269	0.975000	0.29991	0.004000	0.06068	0.0:0.6976:0.1363:0.1661	8.099	0.30007	672	0.60758	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1969.98	37	chr14	91339397	.	C	A	1969.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.820e-01;DP=851;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.49;ReadPosRankSum=0.456;SOR=0.681	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,117,1755	20	0	1	0
chr14	91591996	91591996	C	T	exonic	CATSPERB	.	nonsynonymous SNV	CATSPERB:NM_024764:exon23:c.G2716A:p.G906S,	.	.	.	.	.	.	.	.	.	.	.	2366000	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	1.0	D	0.996	D	0.000	D	0.959	N	1.975	M	0.79	T	-0.810	T	0.244	T	0.328	3.527	18.01	4.25	1.128	3.509	10.897	0.100	0.0271072161437	0.0002	.	9.884e-05	0	0	0	0	0.0001	0.0011	6.056e-05	8.41e-05	13	154602	rs377643733	9.061e-05	9.167e-05	8.063e-05	0.0001	0.0002	7.783e-05	7.324e-05	9.816e-05	7.857e-05	5.993e-05	2.241e-05	0.0018	0	0	0	5.236e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	5.88e-05	0.0001	8.725e-05	1.972e-05	1.124e-05	2.415e-05	0	0	0.0052	0	0	0	5.88e-05	0	0	0.094	0.31383	T	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000110	0.50451	D	0.000000	0.959451	0.26185	N	2.78	0.81115	M	0.79	0.49068	T	-3.89	0.72820	D	0.479	0.51405	-0.8103	0.54532	T	0.244	0.61249	T	10	0.07657516	0.11979	T	0.027107	0.49956	D	0.100	0.28662	.	.	0.702633538697	0.70005	0.6157870092488746	0.61510	0.798181110154	0.66124	0.440170645714	0.30599	T	0.245522	0.61483	T	-0.261793	0.12691	T	-0.398489	0.33560	T	0.906224429607391	0.56018	D	.	.	.	0.21472318	0.43885	0.24212302	0.49626	0.21472318	0.43885	0.24212302	0.49625	-5.204	0.38982	T	.	.	0.484	0.63830	A	.	.	4.860284	0.79530	27.1	0.99809249167406999	0.89353	0.62245	0.31723	D	AEFI	0.211161	0.33698	N	0.426111798955614	0.62862	4.509354	0.365624931652158	0.59453	4.123414	0.77916815248555	0.23809	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.16	4.25	0.49658	3.554000	0.53466	7.410000	0.58637	0.549000	0.26987	0.892000	0.31242	1.000000	0.68203	0.988000	0.63387	0.1879:0.812:0.0:0.0	10.897	0.46238	893	0.26510	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1041.98	33	chr14	91591996	.	C	T	1041.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.368;DP=784;ExcessHet=0.0000;FS=4.423;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=0.889;SOR=0.361	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1276	20	0	1	0
chr14	91672938	91672938	T	A	exonic	CATSPERB	.	nonsynonymous SNV	CATSPERB:NM_024764:exon13:c.A1057T:p.I353F,	.	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.019	B	0.015	B	0.000	N	1.000	N	0	N	0.85	T	-1.069	T	0.056	T	0.115	0.232	5.255	-5.23	-0.933	-0.309	0.631	0.068	0.00596742551019	.	.	8.265e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs764188524	5.031e-05	4.994e-05	4.524e-05	5.543e-05	0.0018	4.089e-05	3.761e-05	0.0010	0.0007	6.115e-05	2.418e-05	0	0	0	0.0018	4.596e-05	0.0001	2.404e-05	5.919e-05	5.912e-05	7.713e-05	4.04e-05	0.0001	3.08e-05	2.212e-05	2.847e-05	1.858e-05	4.832e-05	0	0.0001	0	0	0	0	7.351e-05	0	0	0.682	0.04404	T	0.094	0.39645	T	0.019	0.17989	B	0.015	0.17295	B	0.000000	0.00162	N	15.000100	1	0.08975	N	1.1	0.28011	L	0.85	0.47130	T	-0.65	0.18877	N	0.092	0.07125	-1.0685	0.09746	T	0.056	0.23450	T	10	0.038360417	0.02250	T	0.005967	0.15579	T	0.068	0.19811	.	.	0.119812018005	0.11559	0.05423139408616145	0.05365	0.327067737592	0.34847	0.325008451939	0.14179	T	0.041018	0.25718	T	-0.401843	0.02252	T	-0.681834	0.06872	T	0.0496167838573456	0.05432	T	.	.	.	0.07903811	0.18033	0.057139	0.10335	0.07903811	0.18033	0.057139	0.10334	-4.205	0.26824	T	.	.	0.093	0.14155	B	.	.	-0.712902	0.01291	0.069	0.2522673902084035	0.01153	0.01650	0.05300	N	AEBI	0.052796	0.09458	N	-1.25480286907915	0.04237	0.1908112	-1.31283162004342	0.04263	0.2007219	3.36624261503037E-4	0.06583	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.43	-5.23	0.02584	-0.307000	0.08206	-2.802000	0.03346	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.4082:0.1592:0.1333:0.2993	0.631	0.00744	883	0.28872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	656.98	33	chr14	91672938	.	T	A	656.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.792;DP=795;ExcessHet=0.0000;FS=1.819;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.64;ReadPosRankSum=-1.282e+00;SOR=0.864	GT:AD:DP:GQ:PL	0/1:55,31:86:99:671,0,1311	20	0	1	0
chr14	91937102	91937102	A	G	exonic	FBLN5	.	nonsynonymous SNV	FBLN5:NM_001384159:exon4:c.T275C:p.V92A	Cutis laxa, autosomal dominant 2;Cutis laxa, autosomal recessive, type IA, Autosomal recessive;Macular degeneration, age-related, 3, Autosomal dominant;Neuropathy, hereditary, with or without age-related macular degeneration, Autosomal dominant	.	0	1513	8	1	0	10	0.00329381	.	.	337801	not_specified|not_provided|Cutis_Laxa,_Dominant/Recessive|Inborn_genetic_diseases|Macular_degeneration	MedGen:CN169374|MedGen:C3661900|MedGen:CN239277|MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0000608,Human_Phenotype_Ontology:HP:0007694,MONDO:MONDO:0003004,MedGen:C0024437	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.16	T	0.783	P	0.363	B	0.000	D	0.998	D	1.7	L	-1.53	D	-0.087	T	0.481	T	0.547	3.581	18.24	5.58	2.134	4.910	15.750	0.356	0.0647595851347	.	0.000199681	8.238e-05	0	0.0002	0	0	0.0001	0	6.057e-05	7.12e-05	11	154602	rs145108467	0.0001	0.0001	0.0001	0.0001	0.0038	0.0001	9.966e-05	0.0026	0.0022	0	0.0001	0	0	0	0.0038	9.442e-05	0.0004	0.0002	7.885e-05	7.874e-05	6.43e-05	9.406e-05	0.0002	4.497e-05	3.512e-05	7.91e-05	5.995e-05	0	0	6.547e-05	0	0	0	0	0.0001	0	0.0002	0.023	0.78490	D	0.005	0.72224	D	0.783	0.44368	P	0.363	0.43280	B	0.000100	0.51296	D	0.132797	0.996268	0.44152	D	1.7	0.43825	L	-1.56	0.82076	D	-1.67	0.50012	N	0.527	0.58287	-0.0870	0.80395	T	0.481	0.80175	T	10	0.24574801	0.41827	T	0.06476	0.69375	D	0.356	0.67691	.	.	0.621296950098	0.61822	0.6547844994227595	0.65414	0.62569123341	0.56737	0.647772073746	0.59669	T	0.076342	0.60067	T	-0.0969688	0.36927	T	-0.0849166	0.64542	T	0.0566954367991829	0.06637	T	0.741926	0.52631	T	0.11917039	0.28064	0.22384578	0.47277	0.18191671	0.39385	0.26314378	0.52116	-5.135	0.38274	T	.	.	0.286	0.53914	B	.;.;.;.	.;.;.;.	3.896998	0.56739	23.8	0.99625611547499571	0.75716	0.93213	0.57620	D	AEFGBI	0.707660	0.66232	D	0.149946732911061	0.48810	3.088686	0.275823702376681	0.54132	3.579099	0.999989928121182	0.51787	0.706548	0.73137	0	0.547309	0.14657	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	5.152000	0.64727	9.192000	0.79135	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.842000	0.39752	1.0:0.0:0.0:0.0	15.750	0.77743	477	0.77662	EGF-like domain|EGF-like calcium-binding domain;EGF-like domain|EGF-like calcium-binding domain;EGF-like domain|EGF-like calcium-binding domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2557.11	33	chr14	91937102	.	A	G	2557.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.03;DP=921;ExcessHet=0.1072;FS=2.717;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.58;ReadPosRankSum=0.686;SOR=0.544	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1049	19	0	2	0
chr14	92071010	92071010	-	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	exonic	ATXN3	.	frameshift insertion	ATXN3:NM_001164782:exon2:c.67_68insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G23Afs*74	Machado-Joseph disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0005	0.0004	0.0004	0.0066	0.0004	0.0003	0.0059	0.0057	0.0039	0.0002	0	0.0066	4.089e-05	0.0008	8.033e-05	0.0005	0.0003	0.0029	0.0030	0.0029	0.0030	0.0095	0.0027	0.0026	0.0087	0.0084	0.0095	0	0.0009	0	0.0069	0	0	0.0004	0.0010	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	36259.03	42	chr14	92071010	.	C	CCTGCTGCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	36259.03	.	AC=18,2,2,6,3,2;AF=0.429,0.048,0.048,0.143,0.071,0.048;AN=42;BaseQRankSum=0.860;DP=1771;ExcessHet=0.9430;FS=3.265;InbreedingCoeff=0.0101;MLEAC=18,2,2,6,3,2;MLEAF=0.429,0.048,0.048,0.143,0.071,0.048;MQ=59.43;MQRankSum=0.00;QD=25.62;ReadPosRankSum=1.57;SOR=1.013	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,43,0,0,0,0,0:45:99:.:.:1931,133,0,1779,178,1915,1779,178,1915,1915,1779,178,1915,1915,1915,1779,178,1915,1915,1915,1915,1779,178,1915,1915,1915,1915,1915	1	5	3	0
chr14	92453918	92453918	A	G	exonic	SLC24A4	.	nonsynonymous SNV	SLC24A4:NM_153646:exon11:c.A899G:p.Y300C	Amelogenesis imperfecta, type IIA5, Autosomal recessive	.	431	1080	11	0	0	11	0.00506679	.	.	725862	SLC24A4-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.985	D	0.662	P	0.000	D	1.000	D	2.175	M	0.14	T	-0.434	T	0.285	T	0.844	0.787	8.148	5.39	2.043	7.950	15.435	0.344	0.0616598855736	0.0013	0.00139776	0.0017	0.0003	0.0003	0	0	0.0015	0.0022	0.0061	0.0016688	258	154602	rs139572787	0.0018	0.0018	0.0016	0.0019	0.0061	0.0017	0.0017	0.0052	0.0051	0.0001	0.0005	0.0055	2.526e-05	0.0006	0.0061	0.0016	0.0017	0.0057	0.0012	0.0012	0.0011	0.0013	0.0041	0.0011	0.0010	0.0027	0.0023	0.0004	0	0.0007	0.0058	0	0.0007	0.0136	0.0016	0.0009	0.0041	0.095	0.38185	T	0.117	0.39799	T	0.016	0.61118	B	0.012	0.52860	B	0.000213	0.47681	D	0.225081	1	0.81001	D	2.19	0.61577	M	-0.27	0.67367	T	-3.91	0.73042	D	0.656	0.72925	-0.4337	0.70943	T	0.285	0.65675	T	10	0.010277331	0.00229	T	0.06166	0.68404	D	0.344	0.66582	.	.	0.779352818011	0.77731	0.6888588585470462	0.68825	0.729906108514	0.62686	0.580826044083	0.50202	T	0.380718	0.74319	T	-0.0867784	0.38605	T	0.104215	0.77188	D	0.0741529444886833	0.09222	T	0.811819	0.46320	T	0.19234084	0.40900	0.17741047	0.40341	0.20618644	0.42785	0.23304382	0.48481	-3.741	0.19925	T	.	.	0.089	0.12418	B	.;.;.	.;.;.	4.418099	0.68405	25.2	0.64460826668296256	0.07500	0.99503	0.96817	D	AEFDBI	0.922246	0.89692	D	0.0193480640160341	0.42735	2.58056	0.0195608362097615	0.40623	2.427391	0.999999996843307	0.74766	0.554377	0.28877	0	0.573078	0.20572	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.39	5.39	0.77615	8.374000	0.90026	9.252000	0.79496	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.188000	0.21541	1.0:0.0:0.0:0.0	15.435	0.74863	441	0.80015	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1876.98	34	chr14	92453918	.	A	G	1876.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.31;DP=807;ExcessHet=0.0000;FS=2.675;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.91;ReadPosRankSum=0.257;SOR=1.024	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1367	20	0	1	0
chr14	92555775	92555780	AGAGGA	-	exonic	RIN3	.	nonframeshift deletion	RIN3:NM_024832:exon2:c.69_74del:p.E28_E29del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0073	0.00239617	0.0012	0.0093	0.0003	0.0028	0	0.0002	0.0011	0.0003	0.0010284	159	154602	rs376329535	0.0004	0.0004	0.0005	0.0004	0.0104	0.0004	0.0004	0.0095	0.0091	0.0104	0.0007	3.826e-05	0.0019	5.618e-05	0.0002	0.0001	0.0008	0.0002	0.0029	0.0029	0.0028	0.0030	0.0095	0.0026	0.0026	0.0088	0.0085	0.0095	0	0.0009	0	0.0027	0.0002	0.0034	7.349e-05	0.0014	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2351.94	35	chr14	92555774	.	GAGAGGA	G	2351.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.775;DP=844;ExcessHet=0.0000;FS=3.249;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.97;ReadPosRankSum=2.31;SOR=0.992	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr14	92652452	92652452	G	A	exonic	RIN3	.	nonsynonymous SNV	RIN3:NM_001319987:exon5:c.G1178A:p.R393Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.999	D	0.637	P	0.646	N	1.000	N	1.32	L	3.41	T	-0.993	T	0.009	T	0.028	2.200	13.31	2.36	0.779	0.989	6.702	0.060	.	0.0100	0.00638978	0.0027	0.0291	0.0012	0	0	4.505e-05	0.0022	0.0002	0.0024967	386	154602	rs143884398	0.0008	0.0008	0.0008	0.0007	0.0282	0.0007	0.0007	0.0267	0.0261	0.0282	0.0016	0	0	0	0.0009	1.619e-05	0.0017	0.0001	0.0088	0.0089	0.0089	0.0087	0.0315	0.0084	0.0083	0.0301	0.0295	0.0315	0	0.0018	0	0	0	0.0034	2.942e-05	0.0038	0	0.027	0.46513	D	0.283	0.21478	T	0.999	0.77913	D	0.637	0.51992	P	0.646043	0.10556	N	0.826075	1	0.08975	N	2.05	0.56469	M	3.41	0.05574	T	-0.73	0.20576	N	0.166	0.20528	-0.9930	0.31827	T	0.009	0.03011	T	10	0.0034264028	0.00060	T	.	.	.	0.060	0.17295	.	.	0.40318662893	0.39936	0.12056528278695332	0.11983	0.364535939947	0.38068	0.289632558823	0.08869	T	0.001531	0.12515	T	-0.68422	0.00045	T	-0.731236	0.04272	T	0.00595263800526958	0.00065	T	0.768523	0.39806	T	0.04896222	0.08619	0.06012215	0.11399	0.04896222	0.08619	0.06012215	0.11398	-3.86	0.21704	T	.	.	0.078	0.14933	B	.;.	.;.	2.558301	0.33127	19.25	0.99778469250219326	0.86519	0.06628	0.12645	N	AEFDGBCI	0.081748	0.16546	N	-0.34273426500914	0.27540	1.511808	-0.34100838111855	0.26789	1.481964	0.999999854788958	0.74766	0.706548	0.73137	0	0.52208	0.09955	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.22	2.36	0.28258	1.034000	0.29811	2.892000	0.35396	0.618000	0.50648	0.067000	0.21986	1.000000	0.68203	0.219000	0.22435	0.3831:0.0:0.6169:0.0	6.702	0.22415	840	0.37365	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1262.98	44	chr14	92652452	.	G	A	1262.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.89;DP=923;ExcessHet=0.0000;FS=2.471;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=-1.272e+00;SOR=0.485	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr14	92676516	92676516	T	C	exonic	RIN3	.	nonsynonymous SNV	RIN3:NM_001319987:exon7:c.T2152C:p.Y718H	.	.	419	1101	2	0	0	2	0.000907441	.	.	3226502	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.715	M	0.9	T	-0.442	T	0.225	T	0.786	4.653	25.6	4.66	1.739	7.945	14.112	0.576	0.0707620000594	0.0046	0.00159744	0.0038	0.0012	0.0017	0	0.0009	0.0062	0.0044	0.0001	0.0038615	597	154602	rs147042536	0.0051	0.0051	0.0052	0.0051	0.0062	0.0050	0.0050	0.0061	0.0061	0.0007	0.0025	0.0040	0	0.0012	0.0014	0.0062	0.0034	0.0004	0.0039	0.0039	0.0042	0.0036	0.0069	0.0037	0.0036	0.0064	0.0062	0.0009	0	0.0038	0.0032	0	0.0012	0	0.0069	0.0047	0.0004	0.024	0.47745	D	0.008	0.67890	D	0.983	0.60381	D	0.779	0.57244	P	0.000001	0.62929	D	0.000000	1	0.81001	D	2.77	0.80896	M	0.9	0.45248	T	-4.36	0.76980	D	0.839	0.83473	-0.4420	0.70664	T	0.225	0.58957	T	10	0.01881826	0.00413	T	0.070762	0.71089	D	0.576	0.82855	.	.	0.813178445668	0.81142	0.8644241932507994	0.86406	1.07114947987	0.76813	0.86321491003	0.91584	D	0.304409	0.71237	T	-0.199635	0.20858	T	-0.0485078	0.67125	D	0.0217646040062449	0.00882	T	0.936106	0.77228	D	0.48705512	0.66327	0.39344192	0.64063	0.48705512	0.66327	0.39344192	0.64063	-11.994	0.84822	D	.	.	0.968	0.89096	P	.;.	.;.	5.043444	0.83965	28.2	0.99878313319672407	0.95491	0.91746	0.54176	D	AEFDGBCI	0.939125	0.93929	D	0.687938574701677	0.78842	6.953715	0.632520874454762	0.77313	6.655596	0.999999999999711	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.66	4.66	0.57857	7.923000	0.86956	7.840000	0.70487	0.607000	0.46521	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	14.112	0.64658	900	0.24599	VPS9 domain|VPS9 domain|VPS9 domain;VPS9 domain|VPS9 domain|VPS9 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1183.98	33	chr14	92676516	.	T	C	1183.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.978;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.96;ReadPosRankSum=0.357;SOR=0.732	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1203	20	0	1	0
chr14	92711922	92711922	G	A	exonic	LGMN	.	nonsynonymous SNV	LGMN:NM_005606:exon9:c.C644T:p.S215L	.	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.96	D	0.000	D	1.000	D	4.01	H	0.61	T	0.326	D	0.497	T	0.927	4.932	28.6	4.81	2.658	6.168	18.035	0.495	0.067829462754	.	.	4.118e-05	0	0	0	0	1.498e-05	0	0.0002	3.23e-05	5	154602	rs755125292	8.004e-05	8.072e-05	7.76e-05	8.251e-05	0.0003	6.801e-05	6.355e-05	7.686e-05	7.173e-05	0	2.236e-05	0	0	0	0.0003	9.174e-05	9.936e-05	6.957e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	0.0002	5.24e-06	2.45e-06	5.287e-05	2.835e-05	0	0	0.0002	0	0	0	0	0	0	0	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.941	0.67658	D	0.000001	0.62929	D	0.060430	1	0.81001	D	3.225	0.89467	M	0.59	0.54911	T	-5.33	0.85103	D	0.763	0.77039	0.326	0.87972	D	0.497	0.80970	T	10	0.8361512	0.82771	D	0.067829	0.70279	D	0.495	0.78036	.	.	0.864503600798	0.86318	0.8276247116586376	0.82720	0.902901504755	0.70704	0.472838759422	0.35071	T	0.716246	0.91945	D	0.170097	0.71133	D	0.243225	0.85300	D	0.976465821266174	0.71392	D	0.959104	0.87317	D	0.90897506	0.92200	0.82728773	0.90008	0.90897506	0.92201	0.82728773	0.90009	-11.866	0.84192	D	.	.	0.526	0.75762	A	.;.;.;.	.;.;.;.	4.899075	0.80508	27.3	0.99930963246763971	0.99387	0.97139	0.72918	D	AEFBI	0.847720	0.76457	D	0.896916770913941	0.91608	10.970	0.778164482722187	0.88236	9.507526	0.999999999999935	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.81	4.81	0.61401	6.610000	0.74051	8.523000	0.77429	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.834000	0.39329	0.0:0.0:1.0:0.0	18.035	0.89222	906	0.23090	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1447.98	39	chr14	92711922	.	G	A	1447.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.250e-01;DP=923;ExcessHet=0.0000;FS=3.155;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.65;ReadPosRankSum=-1.119e+00;SOR=0.986	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,100,1466	20	0	1	0
chr14	92809378	92809378	G	A	exonic	GOLGA5	.	nonsynonymous SNV	GOLGA5:NM_005113:exon4:c.G851A:p.R284Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.171	B	0.104	B	0.001	N	0.993	D	0.995	L	0.9	T	-1.105	T	0.039	T	0.026	2.521	14.39	3.29	0.461	1.812	9.497	0.037	.	0.0057	0.00599042	0.0018	0.0198	0.0007	0	0	3.005e-05	0.0011	0	0.0016882	261	154602	rs114206362	0.0005	0.0005	0.0006	0.0005	0.0192	0.0005	0.0005	0.0180	0.0175	0.0192	0.0010	0	0	3.744e-05	0.0003	2.789e-05	0.0011	1.159e-05	0.0055	0.0056	0.0057	0.0054	0.0193	0.0052	0.0051	0.0181	0.0177	0.0193	0	0.0017	0	0	0	0	5.881e-05	0.0066	0	0.223	0.18757	T	0.315	0.19421	T	0.171	0.28729	B	0.104	0.31021	B	0.001396	0.39175	N	0.000000	0.992705	0.41719	D	0.965	0.23975	L	0.9	0.45248	T	-1.59	0.38345	N	0.086	0.06322	-1.1051	0.03527	T	0.039	0.16634	T	10	0.0062217712	0.00140	T	.	.	.	0.037	0.09474	.	.	0.438383285633	0.43460	0.17969791197791632	0.17888	0.177885931959	0.20015	0.299754858017	0.10364	T	0.030524	0.21617	T	-0.638226	0.00085	T	-0.673949	0.07357	T	0.0149805735213209	0.00321	T	0.879112	0.59504	D	0.069703855	0.15293	0.06473806	0.13019	0.069703855	0.15292	0.06473806	0.13019	-1.647	0.02094	T	.	.	0.062	0.01348	B	.	.	2.594142	0.33655	19.40	0.99695742822295896	0.80248	0.91122	0.52903	D	AEFBI	0.260273	0.37845	N	-0.255136619388531	0.30898	1.727307	-0.103509190066547	0.35248	2.037049	0.948351323095894	0.27796	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.08	3.29	0.36801	1.860000	0.39068	4.418000	0.43305	0.676000	0.76740	0.994000	0.38300	1.000000	0.68203	0.995000	0.73285	0.3898:0.0:0.6102:0.0	9.497	0.38162	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1550.98	33	chr14	92809378	.	G	A	1550.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.63;DP=775;ExcessHet=0.0000;FS=0.836;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.50;ReadPosRankSum=-1.930e-01;SOR=0.542	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1088	20	0	1	0
chr14	92932382	92932382	C	G	exonic	CHGA	.	nonsynonymous SNV	CHGA:NM_001301690:exon6:c.C368G:p.A123G	.	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.856	P	0.391	B	0.804	N	1.000	N	1.52	L	4.83	T	-0.892	T	0.003	T	0.032	1.774	11.89	3.47	0.975	.	9.450	0.088	.	0.0083	0.0061901	0.0049	0.0358	0.0043	0	0	0	0.0045	0	0.001837	284	154602	rs9658663	0.0007	0.0007	0.0008	0.0006	0.0269	0.0007	0.0007	0.0254	0.0248	0.0269	0.0014	0	0	0	0.0004	8.197e-06	0.0016	4.907e-05	0.0075	0.0075	0.0078	0.0072	0.0261	0.0072	0.0070	0.0248	0.0243	0.0261	0	0.0026	0	0	0	0	5.882e-05	0.0071	0	0.218	0.26409	T	0.237	0.24621	T	0.856	0.47190	P	0.391	0.44178	B	0.803706	0.06785	N	1.098280	1	0.08975	N	2.395	0.69210	M	4.83	0.01493	T	-1.23	0.31170	N	0.135	0.16308	-0.8924	0.48722	T	0.003	0.00961	T	10	0.0030075014	0.00049	T	.	.	.	0.088	0.25558	.	.	0.236890367714	0.23314	0.061077663869595136	0.06047	0.670945208319	0.59438	0.262982308865	0.05250	T	0.160541	0.50442	T	-0.686984	0.00044	T	-0.738632	0.03949	T	0.0218548715078348	0.00892	T	.	.	.	0.05931666	0.12040	0.05508359	0.09597	0.05931666	0.12039	0.05508359	0.09596	-3.156	0.11951	T	.	.	0.097	0.15832	B	.;.	.;.	2.537051	0.32816	19.15	0.99038019455684745	0.50962	0.56286	0.30078	D	AEFDBCI	0.179154	0.30643	N	-0.226677898066835	0.32042	1.802929	-0.276671190520573	0.28868	1.612946	0.969594800920622	0.29140	0.650006	0.45971	0	0.547309	0.14657	0	0.606735	0.37207	0	0.613276	0.41899	0	.	.	4.36	3.47	0.38831	0.948000	0.28694	0.852000	0.22147	0.599000	0.40250	0.738000	0.29006	0.335000	0.24393	0.503000	0.29084	0.0:0.899:0.0:0.101	9.450	0.37887	911	0.21964	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1173.98	35	chr14	92932382	.	C	G	1173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.067e+00;DP=843;ExcessHet=0.0000;FS=2.453;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.30;ReadPosRankSum=0.164;SOR=0.706	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1254	20	0	1	0
chr14	92941732	92941732	G	T	exonic	ITPK1	.	nonsynonymous SNV	ITPK1:NM_001363707:exon9:c.C717A:p.S239R	.	.	417	1099	6	0	0	6	0.00272232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.03	B	0.03	B	0.510	N	1.000	D	1.59	L	.	.	-0.734	T	0.210	T	0.212	2.486	14.27	3.58	2.221	2.333	13.324	0.071	0.0290372094218	.	0.000399361	0.0012	0	0.0007	0	0	0.0005	0.0076	0.0031	0.0003493	54	154602	rs567443586	0.0003	0.0003	0.0002	0.0003	0.0025	0.0002	0.0002	0.0023	0.0021	0	0.0002	0	0	0	0.0022	9.972e-05	0.0003	0.0025	0.0002	0.0002	8.99e-05	0.0002	0.0027	0.0001	9.229e-05	0.0016	0.0013	0	0	0	0	0	0	0.0034	0.0001	0	0.0027	0.019	0.50676	D	0.041	0.51112	D	0.03	0.20002	B	0.03	0.21741	B	0.509576	0.11859	N	0.807672	0.976324	0.81001	D	1.65	0.42232	L	.	.	.	-0.74	0.25118	N	0.156	0.20925	-0.7337	0.58776	T	0.210	0.56973	T	9	0.01060459	0.00235	T	0.029037	0.51617	D	0.071	0.20720	0.415	0.45380	0.128874641272	0.12493	0.3961380180446271	0.39528	0.558886656677	0.52455	0.692266702652	0.66032	T	0.110339	0.42496	T	-0.436196	0.01362	T	-0.404889	0.32817	T	0.0412309674587538	0.03914	T	.	.	.	0.0807201	0.18512	0.09399475	0.22228	0.0807201	0.18511	0.09399475	0.22227	-3.783	0.20551	T	.	.	0.217	0.44732	B	.;.;.	.;.;.	1.792478	0.22787	15.76	0.99428485580061599	0.64130	0.97618	0.75940	D	AEFBI	0.617684	0.60377	D	-0.127428297000857	0.36200	2.08932	-0.0229456387727947	0.38680	2.282391	0.999999550149433	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.554053	0.18673	1	0.655142	0.61905	0	.	.	4.49	3.58	0.40133	2.208000	0.42436	3.535000	0.38974	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.098000	0.18187	0.0817:0.0:0.9183:0.0	13.324	0.59887	906	0.23090	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	930.98	33	chr14	92941732	.	G	T	930.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.470e-01;DP=758;ExcessHet=0.0000;FS=0.970;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.26;ReadPosRankSum=-7.200e-02;SOR=0.880	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1117	20	0	1	0
chr14	93245991	93245991	G	C	exonic	BTBD7	.	nonsynonymous SNV	BTBD7:NM_001289133:exon8:c.C1364G:p.T455R	.	.	429	1078	15	0	0	15	0.00690926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.996	D	0.918	D	0.000	D	1.000	D	0.55	N	1.06	T	-0.868	T	0.140	T	0.621	4.862	27.8	5.75	2.716	7.372	19.95	0.181	0.0185222511437	0.0012	0.000399361	0.0019	0.0003	0.0023	0	0.0002	0.0027	0.0077	0.0006	0.0017658	273	154602	rs146853662	0.0018	0.0018	0.0017	0.0018	0.0161	0.0017	0.0017	0.0135	0.0125	0.0006	0.0020	0.0109	0	0.0001	0.0161	0.0017	0.0025	0.0006	0.0015	0.0015	0.0015	0.0014	0.0021	0.0013	0.0012	0.0018	0.0017	0.0004	0	0.0008	0.0089	0	0.0003	0.0170	0.0021	0.0038	0.0006	0.002	0.72154	D	0.013	0.63109	D	0.38	0.38659	B	0.064	0.43514	B	0.000000	0.84330	D	0.089972	0.999884	0.53665	D	0.695	0.17993	N	1.06	0.51228	T	-0.24	0.11366	N	0.705	0.70878	-0.8681	0.50672	T	0.140	0.45960	T	10	0.0063017607	0.00142	T	0.018522	0.40611	T	0.181	0.45247	.	.	0.29966067498	0.29572	0.39545749483455384	0.39460	0.228845249753	0.25439	0.455926537514	0.32754	T	0.016366	0.13540	T	-0.298001	0.08849	T	-0.207002	0.53981	T	0.0370415484473272	0.03163	T	.	.	.	0.36523506	0.58231	0.46023786	0.68649	0.36523506	0.58232	0.46023786	0.68650	-4.059	0.24683	T	.	.	0.120	0.45714	B	.;.;.	.;.;.	3.835431	0.55468	23.6	0.99541946073988119	0.70586	0.99126	0.91608	D	AEFBI	0.874595	0.79756	D	0.398461655940948	0.61338	4.333608	0.533030940411368	0.70228	5.474097	0.999999999999968	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.75	5.75	0.90390	7.496000	0.80367	8.605000	0.77744	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.95	0.97196	797	0.45241	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1488.98	36	chr14	93245991	.	G	C	1488.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.700e-02;DP=863;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=-1.302e+00;SOR=0.650	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1405	20	0	1	0
chr14	93621920	93621920	G	A	exonic	UNC79	.	nonsynonymous SNV	UNC79:NM_020818:exon30:c.G4156A:p.E1386K	.	.	433	1078	10	1	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.001	B	0.002	B	0.000	N	0.512	N	0.895	L	2.18	T	-1.038	T	0.024	T	0.276	0.936	8.815	4.16	0.865	5.281	12.273	0.076	0.00711579097533	0.0026	0.00139776	0.0036	0.0009	0.0013	0	0.0015	0.0044	0.0099	0.0058	0.0035122	543	154602	rs78490074	0.0044	0.0044	0.0044	0.0044	0.0069	0.0043	0.0043	0.0065	0.0063	0.0007	0.0022	3.826e-05	2.519e-05	0.0013	0.0040	0.0048	0.0041	0.0069	0.0029	0.0029	0.0029	0.0030	0.0050	0.0027	0.0026	0.0043	0.0041	0.0008	0.0099	0.0027	0	0	0.0013	0	0.0047	0.0028	0.0050	0.359	0.13566	T	0.278	0.21812	T	.	.	.	.	.	.	0.000024	0.55875	N	0.152716	0.512217	0.31638	N	0.805	0.20218	L	2.17	0.19020	T	-0.51	0.15986	N	0.09	0.10056	-1.0383	0.17832	T	0.024	0.10374	T	10	0.00458017	0.00095	T	0.007116	0.18869	T	0.076	0.22200	.	.	0.043077524339	0.03247	0.6821186945841523	0.68150	0.36516677648	0.38118	0.425712704659	0.28623	T	0.063634	0.38073	T	-0.551922	0.00284	T	-0.562127	0.16177	T	0.00654842275296637	0.00073	T	.	.	.	0.05769791	0.11514	0.08991214	0.21054	0.05769791	0.11514	0.08991214	0.21053	-4.091	0.27598	T	.	.	0.065	0.05103	B	.;.;.;.;.	.;.;.;.;.	2.151137	0.27396	17.45	0.97791701591176228	0.36001	0.97590	0.75750	D	AEFBI	0.606884	0.59706	D	-0.564170034903693	0.20042	1.053588	-0.399848885350235	0.25002	1.372392	0.963580061344208	0.28700	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.98	4.16	0.48138	2.878000	0.48213	5.259000	0.48116	-0.162000	0.11565	0.999000	0.42656	1.000000	0.68203	0.034000	0.13613	0.1383:0.0:0.8617:0.0	12.273	0.54037	789	0.46346	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1827.98	36	chr14	93621920	.	G	A	1827.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.123;DP=849;ExcessHet=0.0000;FS=1.304;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=1.04;SOR=0.845	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1194	20	0	1	0
chr14	94003260	94003260	G	T	exonic	CCDC197	.	nonsynonymous SNV	CCDC197:NM_001351596:exon5:c.G404T:p.C135F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0003	0	0	0.0036	0	0	0	0	0.0002199	34	154602	rs190613093	0.0006	0.0006	0.0007	0.0006	0.0112	0.0006	0.0006	0.0103	0.0099	0	0	0	0.0112	0	0	0	3.022e-05	1.433e-05	0.0001	0.0001	8.995e-05	0.0002	0.0041	9.144e-05	7.7e-05	0.0027	0.0023	0	0	0	0	0.0041	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0055502653	0.00123	T	.	.	.	.	.	.	.	.	.	0.055218033621319634	0.05462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49905	0.15565	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.47827	B	.;.	.;.	2.302678	0.29470	18.13	0.63356739121865335	0.07202	0.69225	0.34104	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.94522430182799	0.27650	0.080785	0.02172	0	0.096583	0.02683	0	0.060301	0.00762	0	0.062806	0.01542	0	0.148404	0.27265	3.6	1.75	0.23707	0.290000	0.18731	0.618000	0.20101	-0.130000	0.13190	0.000000	0.06391	0.131000	0.23000	0.107000	0.18608	0.2425:0.0:0.7575:0.0	5.913	0.18279	448	0.79501	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	30.33	4	chr14	94003260	.	G	T	30.33	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-9.670e-01;DP=68;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1323;MLEAC=2;MLEAF=0.063;MQ=60.00;MQRankSum=0.00;QD=10.11;ReadPosRankSum=-9.670e-01;SOR=0.223	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,26	15	0	1	5
chr14	94100772	94100772	G	A	splicing	IFI27L1	NM_145249:exon3:c.61+1G>A;NM_206949:exon3:c.61+1G>A	.	.	.	.	415	1075	30	2	0	34	0.0155678	1.0000	0.934	2402208	Susceptibility_to_severe_COVID-19	.	no_assertion_criteria_provided	Likely_risk_allele	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.170	13.21	2.98	2.032	0.606	9.821	.	.	0.0002	0.00199681	0.0015	9.804e-05	0.0004	0	0	0.0010	0.0044	0.0066	0.0013519	209	154602	rs144379529	0.0010	0.0010	0.0008	0.0013	0.0136	0.0010	0.0010	0.0112	0.0103	8.963e-05	0.0006	0.0031	2.519e-05	1.882e-05	0.0136	0.0006	0.0016	0.0069	0.0009	0.0009	0.0006	0.0011	0.0062	0.0007	0.0007	0.0045	0.0039	7.228e-05	0	0.0021	0.0032	0.0002	0	0.0102	0.0007	0.0009	0.0062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.221173	0.17834	T	-0.0861905	0.64448	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.107629	0.41902	21.4	0.98652801330732154	0.44220	0.48862	0.28303	N	AEFGBI	.	.	.	0.660259185449755	0.77032	6.597697	0.388974521407639	0.60886	4.281241	0.999999705434156	0.74766	0.294411	0.05044	0	0.332522	0.05826	0	0.175069	0.04249	0	0.092715	0.02821	0	0.92792	0.58901	2.98	2.98	0.33575	1.002000	0.29397	2.846000	0.35110	0.570000	0.28895	1.000000	0.71638	1.000000	0.68203	0.066000	0.16387	0.0:0.0:1.0:0.0	9.821	0.40051	365	0.84644	.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2080.11	34	chr14	94100772	.	G	A	2080.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.69;DP=947;ExcessHet=0.1072;FS=3.288;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=0.578;SOR=0.485	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	19	0	2	0
chr14	94208473	94208473	A	C	exonic	PPP4R4	.	nonsynonymous SNV	PPP4R4:NM_001348145:exon3:c.A201C:p.Q67H	.	.	442	1076	4	0	0	4	0.00185529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.952	D	0.000	D	0.901	D	1.745	L	.	.	-0.588	T	0.234	T	0.467	3.301	17.09	1.88	0.084	0.776	8.051	0.392	0.010076433821	.	0.000399361	0.0005	0	9.096e-05	0	0	7.696e-05	0	0.0031	0.0003881	60	154602	rs143912585	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0	0	0	0	0	0.0007	4.517e-05	0.0002	0.0027	7.227e-05	7.218e-05	6.427e-05	8.064e-05	0.0015	3.971e-05	3.127e-05	0.0007	0.0005	0	0	0	0	0	0	0	5.887e-05	0	0.0015	0.018	0.72154	D	0.014	0.92824	D	0.307	0.70673	B	0.077	0.69102	B	0.000001	0.84330	D	0.055986	0.901289	0.36178	D	2.045	0.56016	M	.	.	.	-1.94	0.51157	N	0.524	0.61596	-0.5878	0.65308	T	0.234	0.60063	T	9	0.014137387	0.00298	T	0.010076	0.26191	T	0.392	0.70764	0.351	0.34922	0.236278675362	0.23226	0.6647364679824963	0.66410	0.921292065219	0.71464	0.566585123539	0.48195	T	0.050815	0.28703	T	-0.325006	0.06495	T	-0.243928	0.50413	T	0.106766890816218	0.13085	T	0.933507	0.75104	D	0.16534679	0.36800	0.11476845	0.27704	0.16534679	0.36800	0.11476845	0.27704	-7.487	0.57519	T	.	.	0.609	0.73830	P	.;.	.;.	1.822798	0.23161	15.91	0.99690058079012467	0.79842	0.82456	0.41681	D	AEFI	0.187481	0.31477	N	0.0328206784815014	0.43352	2.629882	0.0405610413214541	0.41617	2.503369	0.102296844634711	0.16410	0.693126	0.56070	0	0.59043	0.45803	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.51	1.88	0.24630	0.556000	0.23144	0.992000	0.23199	-0.648000	0.04400	0.998000	0.41325	0.989000	0.31174	0.579000	0.30870	0.7574:0.0:0.2426:0.0	8.051	0.29736	830	0.39242	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1521.98	33	chr14	94208473	.	A	C	1521.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.230e+00;DP=815;ExcessHet=0.0000;FS=2.331;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.48;ReadPosRankSum=-1.400e+00;SOR=0.488	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1090	20	0	1	0
chr14	94364422	94364422	G	A	exonic	SERPINA2	.	unknown	UNKNOWN,	.	.	422	1079	18	3	0	24	0.0109991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0201677	.	.	.	.	.	.	.	.	0.0062241	162	26028	rs117934891	0.0034	0.0016	0.0033	0.0035	0.0685	0.0032	0.0031	0.0609	0.0580	0.0007	0	0	0.0234	4.687e-05	0.0031	0.0001	0.0034	0.0685	0.0033	0.0033	0.0021	0.0046	0.0631	0.0031	0.0030	0.0573	0.0550	0.0003	0	0.0001	0.0003	0.0337	0	0	0.0001	0.0014	0.0631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1658.98	34	chr14	94364422	.	G	A	1658.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.979;DP=816;ExcessHet=0.0000;FS=1.433;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.38;ReadPosRankSum=-5.860e-01;SOR=0.886	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1182	20	0	1	0
chr14	94382724	94382724	C	A	exonic	SERPINA1	.	nonsynonymous SNV	SERPINA1:NM_000295:exon2:c.G514T:p.G172W	Emphysema due to AAT deficiency, Autosomal recessive;Emphysema-cirrhosis, due to AAT deficiency, Autosomal recessive;Hemorrhagic diathesis due to antithrombin Pittsburgh, Autosomal recessive	.	0	1513	8	0	1	9	0.00263678	.	.	464171	Alpha-1-antitrypsin_deficiency|not_provided|SERPINA1-related_disorder	MONDO:MONDO:0013282,MedGen:C0221757,OMIM:613490,Orphanet:60|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.973	D	0.819	P	0.023	N	1.000	N	2.225	M	-1.85	D	-0.110	T	0.660	D	0.437	1.695	11.63	-4.93	-0.358	-2.629	9.366	0.485	0.0587426484985	0.0007	0.000599042	0.0010	9.61e-05	8.637e-05	0	0.0002	0.0011	0.0022	0.0027	0.0009638	149	154602	rs112030253	0.0010	0.0010	0.0010	0.0011	0.0021	0.0010	0.0010	0.0018	0.0017	0.0002	4.472e-05	0.0002	0	3.744e-05	0.0007	0.0011	0.0006	0.0021	0.0006	0.0006	0.0005	0.0007	0.0017	0.0005	0.0005	0.0008	0.0008	0.0002	0	0.0002	0	0	9.409e-05	0	0.0010	0	0.0017	0.027	0.55530	D	0.01	0.65728	D	0.875	0.57599	P	0.696	0.59018	P	0.022532	0.01574	N	2.336340	1	0.08975	N	2.395	0.69210	M	-1.85	0.84267	D	-2.2	0.49519	N	0.259	0.29659	-0.1098	0.79872	T	0.660	0.88174	D	10	0.029742062	0.01100	T	0.058743	0.67424	D	0.485	0.77399	.	.	0.977864749313	0.97762	0.4452613774014515	0.44444	0.215731861427	0.24104	0.219703227282	0.01293	T	0.466565	0.80125	T	-0.3308	0.06051	T	-0.253805	0.49441	T	0.0796956732036453	0.09947	T	0.272373	0.04609	T	0.33910653	0.56208	0.19167094	0.42639	0.3401979	0.56296	0.27308917	0.53224	-6.795	0.52522	T	0.35474475033001834	0.45167	0.177	0.45483	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	0.351875	0.07252	3.849	0.92586613311583188	0.22046	0.16582	0.19455	N	AEFDBHCI	0.842670	0.75976	D	-0.916680854695814	0.10451	0.4995213	-1.16609721185769	0.06483	0.3122437	0.999999447055887	0.74766	0.553676	0.25195	0	0.610034	0.51514	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.79	-4.93	0.02839	-1.462000	0.02470	-15.955000	0.00333	-0.970000	0.01946	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.4119:0.3859:0.2022	9.366	0.37384	912	0.21483	Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;.;Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1832.98	36	chr14	94382724	.	C	A	1832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=859;ExcessHet=0.0000;FS=4.725;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.83;ReadPosRankSum=-1.293e+00;SOR=0.591	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1226	20	0	1	0
chr14	94448587	94448587	T	C	exonic	SERPINA11	.	nonsynonymous SNV	SERPINA11:NM_001080451:exon2:c.A188G:p.K63R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.476	P	0.393	B	0.011	N	1.000	N	0.99	L	-2.37	D	-0.544	T	0.504	D	0.089	-2.245	0.004	2.49	0.353	0.455	8.252	0.196	0.0527733792442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.821	0.02951	T	0.752	0.04772	T	0.476	0.36665	P	0.393	0.44248	B	0.010536	0.29887	N	0.281477	0.999651	0.20771	N	1.47	0.36993	L	-2.37	0.88220	D	-0.36	0.13035	N	0.243	0.27435	-0.5439	0.67016	T	0.504	0.81276	D	10	0.2673887	0.44250	T	0.052773	0.65205	D	0.196	0.47777	0.681	0.81885	0.640445485288	0.63748	0.5171701939840244	0.51640	0.0580966946885	0.06437	0.37087982893	0.20957	T	0.036	0.24050	T	-0.135254	0.30648	T	-0.43206	0.29703	T	0.1756100307036	0.18954	T	0.513049	0.16451	T	0.04598133	0.07617	0.037752155	0.03493	0.04598133	0.07617	0.037752155	0.03493	-1.443	0.01651	T	.	.	0.068	0.02797	B	.	.	3.073367	0.41320	21.3	0.42852407348308785	0.03186	0.35423	0.25298	N	AEFBI	0.285587	0.39818	N	-0.839045330741308	0.12321	0.5998391	-0.888830903962118	0.12358	0.6352213	0.99540411205396	0.34108	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.85	2.49	0.29274	0.638000	0.24363	0.633000	0.20247	-0.688000	0.04154	0.369000	0.25916	0.003000	0.18671	0.000000	0.00833	0.0:0.3766:0.0:0.6234	8.252	0.30893	895	0.25842	Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1394.98	61	chr14	94448587	.	T	C	1394.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.209e+00;DP=1006;ExcessHet=0.0000;FS=0.772;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.84;ReadPosRankSum=-7.600e-02;SOR=0.595	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1252	20	0	1	0
chr14	94487349	94487349	G	A	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon5:c.C1199T:p.P400L	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.055	B	0.012	B	0.089	N	1.000	N	0.345	N	-2.25	D	-0.586	T	0.467	T	0.146	1.708	11.67	-0.94	-0.039	0.217	16.151	0.207	0.034896432376	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1311631490	4.104e-06	4.104e-06	2.723e-06	5.5e-06	0.0002	1.48e-06	9.7e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.698e-06	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.14743	T	0.3	0.20357	T	0.055	0.22733	B	0.012	0.16012	B	0.089128	0.02436	N	1.998360	1	0.08975	N	1.7	0.43825	L	-2.25	0.87272	D	-2.89	0.60665	D	0.158	0.16447	-0.5855	0.65399	T	0.467	0.79433	T	10	0.16044515	0.30121	T	0.034896	0.55985	D	0.207	0.49555	0.494	0.58206	0.255270683199	0.25152	0.2183793018267305	0.21753	0.0374002625956	0.03967	0.274164706469	0.06691	T	0.109279	0.42301	T	-0.108207	0.35064	T	-0.377722	0.35988	T	0.0889691135931563	0.11094	T	0.424058	0.11326	T	0.13250512	0.30851	0.1642552	0.38060	0.13250512	0.30851	0.1642552	0.38059	-1.464	0.01692	T	.	.	0.183	0.45942	B	.;.	.;.	0.589558	0.09582	6.355	0.7608455441587807	0.11327	0.03487	0.08652	N	AEFBI	0.079916	0.16150	N	-0.997056403113981	0.08667	0.407214	-1.02036090442643	0.09337	0.4640003	0.999618414579977	0.40981	0.487112	0.14033	0	0.563428	0.19063	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.6	-0.94	0.09876	0.304000	0.18983	1.846000	0.29223	0.676000	0.76740	0.000000	0.06391	0.011000	0.20116	0.001000	0.02609	0.0:0.0:0.2009:0.7991	16.151	0.81437	824	0.40336	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2222.98	34	chr14	94487349	.	G	A	2222.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.992;DP=870;ExcessHet=0.0000;FS=2.687;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=0.626;SOR=0.927	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1331	20	0	1	0
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.011	B	0.017	B	0.252	N	1.000	N	0.05	N	-2.05	D	-0.896	T	0.266	T	0.154	-1.272	0.044	2.69	0.689	0.019	3.621	0.133	0.0188046605053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455963195	6.871e-07	2.052e-06	0	1.382e-06	2.524e-05	0	0	.	.	0	0	0	2.524e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.657	0.06576	T	0.011	0.15914	B	0.017	0.18140	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.66	0.16226	N	-2.05	0.85799	D	-1.46	0.35792	N	0.148	0.15046	-0.8956	0.48427	T	0.266	0.63727	T	10	0.040331542	0.02593	T	0.018805	0.40992	T	0.133	0.36157	0.432	0.48171	0.216624796971	0.21254	0.6112549893490689	0.61057	0.100516046514	0.11355	0.37503361702	0.21551	T	0.03395	0.23124	T	-0.223248	0.17552	T	-0.389328	0.34630	T	0.0576949219063508	0.06800	T	0.584142	0.21248	T	0.26295173	0.49358	0.10561278	0.25391	0.26295173	0.49358	0.10561278	0.25390	-1.722	0.02287	T	.	.	0.224	0.49509	B	.;.	.;.	2.009921	0.25536	16.80	0.080949235166052638	0.00057	0.07238	0.13262	N	AEFCI	0.065923	0.12884	N	-0.924847551878464	0.10263	0.4896058	-0.843139383567271	0.13453	0.6979405	0.0132140536699464	0.12433	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.69	0.30923	-0.172000	0.09858	0.548000	0.19395	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.813000	0.38311	0.1769:0.4335:0.0:0.3895	3.621	0.07640	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	13250.74	134	chr14	94497802	.	C	T	13250.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-9.980e-01;DP=3035;ExcessHet=54.0936;FS=263.453;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=4.70;ReadPosRankSum=-4.390e-01;SOR=12.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,56:119:99:.:.:725,0,909	0	0	21	0
chr14	94497803	94497803	C	G	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G595C:p.G199R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.172	B	0.115	B	0.252	N	1.000	N	0.73	N	-2.28	D	-0.740	T	0.386	T	0.255	0.918	8.739	2.68	0.699	-0.025	6.189	0.145	0.0338676746747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.857e-07	6.84e-07	1.364e-06	0	2.267e-05	0	0	.	.	0	2.267e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.14595	T	0.54	0.09760	T	0.172	0.28767	B	0.115	0.31843	B	0.251813	0.15493	N	0.613802	1	0.08975	N	1.43	0.35840	L	-2.28	0.87512	D	-2.7	0.57599	D	0.145	0.14622	-0.7398	0.58463	T	0.386	0.74150	T	10	0.071498126	0.10548	T	0.033868	0.55283	D	0.145	0.38592	0.491	0.57732	0.296329037015	0.29243	0.6547714582531228	0.65413	0.17525157231	0.19731	0.369718432426	0.20792	T	0.047171	0.27643	T	-0.126477	0.32067	T	-0.336586	0.40731	T	0.715756177902222	0.41485	D	0.756024	0.37907	T	0.38583905	0.59736	0.29259723	0.55287	0.38583905	0.59736	0.29259723	0.55286	-2.678	0.07120	T	.	.	0.263	0.53064	B	.;.	.;.	2.036488	0.25887	16.92	0.96925687929522253	0.31636	0.12320	0.17196	N	AEFCI	0.146063	0.26942	N	-0.75468411629497	0.14505	0.7231708	-0.729290243828485	0.16234	0.8577662	0.0138235968800036	0.12515	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.68	0.30839	-0.429000	0.07051	0.818000	0.21820	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.780000	0.36908	0.0:0.5781:0.133:0.2889	6.189	0.19728	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	1176.97	38	chr14	94497803	.	C	G	1176.97	.	AC=3;AF=0.100;AN=30;BaseQRankSum=-4.971e+00;DP=1771;ExcessHet=0.3300;FS=355.698;InbreedingCoeff=-0.1667;MLEAC=3;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=3.52;ReadPosRankSum=-5.900e-02;SOR=9.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,101,1530	12	0	3	6
chr14	94498151	94498151	A	C	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.T247G:p.F83V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.995	D	0.908	P	0.000	D	0.996	D	2.955	M	-1.88	D	0.638	D	0.747	D	0.66	2.698	14.98	5.45	2.065	1.821	10.687	0.576	0.0412245408387	.	0.000399361	9.06e-05	0	0	0	0	0	0	0.0007	8.41e-05	13	154602	rs577934046	3.762e-05	3.762e-05	2.722e-05	4.813e-05	0.0006	2.959e-05	2.655e-05	0.0005	0.0004	0	0	0	0	0	0.0005	0	3.311e-05	0.0006	3.284e-05	3.281e-05	2.571e-05	4.03e-05	0.0010	1.26e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.006	0.61437	D	0.02	0.58613	D	0.995	0.67487	D	0.908	0.64494	P	0.000011	0.62929	D	0.000000	0.995639	0.42782	D	3.295	0.90403	M	-1.88	0.84487	D	-6.05	0.89796	D	0.614	0.63035	0.638	0.92387	D	0.747	0.91351	D	10	0.2999292	0.47543	T	0.041225	0.59811	D	0.576	0.82855	0.547	0.66156	0.536616348568	0.53311	0.5377268505949899	0.53697	0.182636527527	0.20529	0.478205233812	0.35809	T	0.261044	0.63248	T	-0.0806453	0.39611	T	0.00275966	0.70515	D	0.863178074359894	0.51343	D	0.714629	0.32694	T	0.93407696	0.94646	0.7861551	0.87408	0.93407696	0.94647	0.7861551	0.87408	-6.987	0.53939	T	.	.	0.362	0.59268	A	.;.	.;.	3.966289	0.58211	24.0	0.98738263625542977	0.45467	0.89915	0.50698	D	AEFDCI	0.325512	0.42707	N	0.505468996328599	0.67412	5.078294	0.396148540943045	0.61325	4.33127	0.99912126185198	0.38507	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.45	5.45	0.79688	1.903000	0.39488	4.639000	0.44147	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.025000	0.12405	0.9254:0.0:0.0746:0.0	10.687	0.45044	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	5235.08	38	chr14	94498151	.	A	C	5235.08	.	AC=2;AF=0.048;AN=42;DP=1042;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.52;SOR=0.985	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,101,1530	20	1	0	0
chr14	94563637	94563637	C	T	exonic	SERPINA4	.	nonsynonymous SNV	SERPINA4:NM_001289032:exon2:c.C266T:p.A89V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.599	P	0.133	B	0.058	N	1.000	N	0	N	-1.72	D	-0.821	T	0.221	T	0.165	2.929	15.76	1.47	0.077	-0.868	5.383	0.218	0.0768006196663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.737e-06	2.736e-06	1.362e-06	4.126e-06	0.0005	6.4e-07	4.3e-07	0.0001	7.541e-05	0	0	0	0	0	0.0005	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.26965	T	0.23	0.25135	T	0.423	0.35444	B	0.111	0.31539	B	0.058138	0.22426	N	0.350509	1	0.08975	N	0	0.06538	N	-1.72	0.83241	D	-2.36	0.52128	N	0.045	0.01740	-0.8207	0.53890	T	0.221	0.58472	T	10	0.20522895	0.36742	T	0.076801	0.72618	D	0.218	0.51265	0.645	0.78224	0.889553964157	0.88846	0.34988188446030477	0.34902	0.0526298330778	0.05794	0.236814707518	0.02510	T	0.491794	0.81601	T	-0.0913226	0.37857	T	-0.368955	0.37010	T	0.165165966369359	0.18245	T	0.460354	0.13329	T	0.14749898	0.33716	0.101475716	0.24295	0.14749898	0.33716	0.101475716	0.24294	-4.062	0.24728	T	.	.	0.125	0.26451	B	.;.;.	.;.;.	1.046945	0.14277	10.86	0.99516705182428822	0.68979	0.11892	0.16928	N	AEFDBI	0.746434	0.68881	D	-0.812557023533029	0.12990	0.6368228	-0.852397934262335	0.13230	0.6851804	0.987134348709875	0.31191	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	4.38	1.47	0.21832	0.288000	0.18695	-0.860000	0.07144	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.158000	0.20581	0.1489:0.6186:0.0:0.2325	5.383	0.15501	846	0.36215	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	4160.08	33	chr14	94563637	.	C	T	4160.08	.	AC=2;AF=0.048;AN=42;DP=881;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.82;SOR=0.801	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	1	0	0
chr14	94614688	94614688	G	A	exonic	SERPINA3	.	nonsynonymous SNV	SERPINA3:NM_001085:exon2:c.G247A:p.A83T	Alpha-1-antichymotrypsin deficiency (3);Cerebrovascular disease, occlusive (3)	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.985	D	0.617	P	0.000	D	1.000	D	2.655	M	-2.24	D	0.397	D	0.669	D	0.46	3.124	16.44	3.28	1.285	6.537	10.47	0.610	0.0503912468366	.	.	2.471e-05	0	0	0	0	1.498e-05	0	0.0001	1.94e-05	3	154602	rs199923400	1.026e-05	1.026e-05	9.528e-06	1.1e-05	0.0003	6.16e-06	4.89e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	9.892e-06	0	2.319e-05	1.315e-05	1.313e-05	2.572e-05	0	6.541e-05	2.18e-06	8.2e-07	.	.	0	0	6.541e-05	0	0	0	0	1.471e-05	0	0	0.061	0.41637	T	0.043	0.52060	D	0.851	0.46962	P	0.414	0.44907	B	0.000135	0.49741	D	0.084158	0.988463	0.41154	D	2.715	0.79425	M	-2.24	0.87194	D	-3.69	0.70432	D	0.297	0.33578	0.397	0.89052	D	0.669	0.88527	D	10	0.86370814	0.85603	D	0.050391	0.64223	D	0.610	0.84719	0.698	0.83499	0.906423654839	0.90548	0.21682715476133654	0.21598	0.0513843106545	0.05653	0.373170465231	0.21285	T	0.575043	0.85992	D	-0.0402487	0.45911	T	-0.114063	0.62287	T	0.869344532489777	0.51928	D	0.835216	0.50504	T	0.54842687	0.69868	0.43481746	0.66988	0.54842687	0.69869	0.43481746	0.66989	-5.887	0.45324	T	0.4158735947390267	0.50542	0.164	0.36254	B	.;.;.;.	.;.;.;.	2.954085	0.39315	20.9	0.99784876830864122	0.87131	0.94805	0.62390	D	AEFBCI	0.936647	0.93327	D	0.349606962098897	0.58718	4.045925	0.265451256376663	0.53533	3.521792	0.99999624681949	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.13	3.28	0.36691	5.656000	0.67659	2.029000	0.30245	0.656000	0.54149	1.000000	0.71638	0.020000	0.20764	0.046000	0.14843	0.1588:0.0:0.8412:0.0	10.47	0.43817	778	0.48011	Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2838.98	201	chr14	94614688	.	G	A	2838.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.26;DP=1032;ExcessHet=0.0000;FS=6.972;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=1.25;SOR=1.158	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1172	20	0	1	0
chr14	95107916	95107916	C	T	exonic	DICER1	.	nonsynonymous SNV	DICER1:NM_001195573:exon15:c.G2614A:p.A872T	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, Autosomal dominant;Pleuropulmonary blastoma, Autosomal dominant;Rhabdomyosarcoma, embryonal, 2	.	0	1519	3	0	0	3	0.000986518	.	.	137706	Hereditary_cancer-predisposing_syndrome|DICER1-related_tumor_predisposition|Pleuropulmonary_blastoma|DICER1-related_disorder|not_specified|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0100216,MedGen:C3839822,Orphanet:284343|Human_Phenotype_Ontology:HP:0100528,MONDO:MONDO:0011014,MedGen:C1266144,OMIM:601200,Orphanet:64742|.|MedGen:CN169374|MedGen:C3661900	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.53	T	0.999	D	0.805	P	0.000	D	1.000	D	0.97	L	-2.39	D	0.100	D	0.675	D	0.78	4.427	23.5	5.86	2.937	7.744	20.563	0.488	0.0759512384247	0.0008	0.000998403	0.0008	0.0003	0.0016	0	0.0003	0.0011	0.0022	0.0004	0.0008861	137	154602	rs149242330	0.0009	0.0009	0.0010	0.0009	0.0016	0.0009	0.0009	0.0010	0.0010	0.0004	0.0010	0	0	0.0005	0.0016	0.0011	0.0009	0.0005	0.0007	0.0007	0.0008	0.0007	0.0011	0.0006	0.0006	0.0009	0.0008	0.0006	0	0.0007	0	0	0.0002	0	0.0011	0.0014	0	0.444	0.09155	T	0.752	0.05863	T	0.999	0.77913	D	0.805	0.58399	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.075	0.57047	M	-2.39	0.88377	D	-0.81	0.22294	N	0.525	0.66358	0.100	0.84176	D	0.675	0.88766	D	10	0.051948845	0.05154	T	0.075951	0.72413	D	0.488	0.77592	.	.	0.897151340255	0.89613	0.7628593713252855	0.76233	1.3263232929	0.83567	0.722635746002	0.70431	T	0.259869	0.63119	T	-0.0379579	0.46252	T	0.127148	0.78706	D	0.0562141425907612	0.06559	T	0.949705	0.80662	D	0.23219512	0.46003	0.17144088	0.39326	0.20360532	0.42443	0.1911789	0.42561	-3.806	0.23383	T	0.28022124188800623	0.37540	0.613	0.69415	P	.;.;.;.;.	.;.;.;.;.	4.931907	0.81324	27.5	0.99902186121725178	0.97350	0.95548	0.65160	D	AEFGBHCI	0.849257	0.76608	D	0.593482043823757	0.72766	5.857799	0.667119279123837	0.79890	7.179249	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.86	5.86	0.93936	7.811000	0.84631	7.735000	0.67855	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	20.563	0.99337	970	0.06235	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	1555.98	36	chr14	95107916	.	C	T	1555.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.000e-02;DP=856;ExcessHet=0.0000;FS=4.057;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.96;ReadPosRankSum=-1.501e+00;SOR=0.409	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1190	20	0	1	0
chr14	95203143	95203143	G	T	exonic	CLMN	.	nonsynonymous SNV	CLMN:NM_024734:exon9:c.C2206A:p.L736M,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.936	D	0.006	N	1.000	D	1.955	M	-3.65	D	0.561	D	0.827	D	0.456	1.457	10.82	0.988	0.586	1.389	4.110	0.462	0.170819074721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.136	0.34009	T	0.998	0.73220	D	0.936	0.67150	D	0.005738	0.32555	N	0.000000	0.916325	0.27395	N	1.83	0.48079	L	-3.65	0.95179	D	-0.74	0.20791	N	0.376	0.41754	0.561	0.91375	D	0.827	0.94203	D	10	0.43437508	0.57697	T	0.170819	0.84827	D	0.462	0.75889	0.359	0.36222	0.890315468549	0.88923	0.278990113856985	0.27812	0.522592563707	0.49982	0.477104455233	0.35658	T	0.110141	0.42460	T	0.16414	0.70584	D	-0.00200095	0.70206	D	0.731449007987976	0.42285	D	0.862414	0.55771	D	0.10453786	0.24713	0.07230506	0.15584	0.10453786	0.24713	0.07230506	0.15583	-5.156	0.38491	T	.	.	0.284	0.51643	B	.	.	2.925003	0.38838	20.8	0.98639571568777651	0.44028	0.68078	0.33667	D	AEFBI	0.236675	0.35908	N	-0.155912050611275	0.34983	2.003717	-0.259672704568198	0.29440	1.649373	0.989851939321493	0.31956	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.16	0.988	0.18914	1.453000	0.34778	2.551000	0.33264	-0.681000	0.04224	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.2647:0.0:0.5024:0.2329	4.110	0.09526	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	961.98	38	chr14	95203143	.	G	T	961.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.660e-01;DP=775;ExcessHet=0.0000;FS=4.766;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.74;ReadPosRankSum=0.836;SOR=0.315	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1020	20	0	1	0
chr14	96264409	96264409	C	T	exonic	BDKRB1	.	nonsynonymous SNV	BDKRB1:NM_000710:exon3:c.C727T:p.R243C,	.	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.981	D	0.806	P	0.395	U	1.000	N	1.845	L	0.97	T	-0.990	T	0.090	T	0.12	1.336	10.39	-0.811	-0.040	0.288	4.023	0.069	.	0.0031	0.00299521	0.0008	0.0091	0.0003	0.0002	0	1.499e-05	0	6.056e-05	0.0007762	120	154602	rs113666900	0.0003	0.0003	0.0003	0.0002	0.0095	0.0003	0.0003	0.0087	0.0083	0.0095	0.0006	0	0.0004	0	0.0002	6.295e-06	0.0009	0.0001	0.0022	0.0022	0.0022	0.0022	0.0074	0.0020	0.0019	0.0067	0.0064	0.0074	0	0.0010	0	0	0	0	2.94e-05	0.0033	0	0.103	0.30097	T	0.189	0.28575	T	0.981	0.59675	D	0.806	0.58437	P	0.394511	0.04497	U	1.530460	1	0.08975	N	2.33	0.66821	M	0.97	0.42502	T	-0.86	0.23372	N	0.116	0.10483	-0.9896	0.32702	T	0.090	0.34573	T	10	0.004810989	0.00102	T	.	.	.	0.069	0.20116	.	.	0.478755181577	0.47503	0.34933940209969166	0.34847	0.252138644839	0.27782	0.26308169961	0.05262	T	0.248824	0.61868	T	-0.608572	0.00129	T	-0.639841	0.09680	T	0.022645550104574	0.00981	T	0.538946	0.18179	T	0.07321025	0.16342	0.04784402	0.06980	0.07321025	0.16342	0.04784402	0.06980	-5.969	0.46019	T	.	.	0.171	0.37596	B	.;.	.;.	1.551294	0.19880	14.48	0.99084205341349818	0.52051	0.15708	0.19043	N	AEFGBCI	.	.	.	-0.636901861134691	0.17844	0.921654	-0.858825256146252	0.13076	0.6763231	0.999908001424146	0.45458	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.04	-0.811	0.10310	0.770000	0.26280	-0.707000	0.07768	-1.640000	0.00841	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1191:0.5641:0.1046:0.2122	4.023	0.09159	976	0.04745	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	948.98	38	chr14	96264409	.	C	T	948.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.29;DP=985;ExcessHet=0.0000;FS=4.102;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.54;ReadPosRankSum=-4.020e-01;SOR=1.218	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	20	0	1	0
chr14	96264526	96264526	C	T	exonic	BDKRB1	.	stopgain	BDKRB1:NM_000710:exon3:c.C844T:p.R282X,	.	.	428	1085	3	2	4	11	0.00321543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.428	N	1.000	N	.	.	.	.	.	.	.	.	.	5.897	36	-2.47	-0.499	0.235	9.988	.	.	0.0028	0.00139776	0.0028	0.0015	0.0007	0	0.0014	0.0038	0.0011	0.0033	0.0027749	429	154602	rs145322761	0.0028	0.0028	0.0027	0.0029	0.0038	0.0027	0.0027	0.0035	0.0034	0.0009	0.0011	0.0114	7.557e-05	0.0020	0.0024	0.0028	0.0029	0.0038	0.0020	0.0020	0.0020	0.0021	0.0037	0.0018	0.0018	0.0024	0.0021	0.0015	0	0.0007	0.0101	0.0002	0.0009	0	0.0025	0.0019	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	0.428342	0.12780	N	0.708972	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.086	0.06587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0792143	0.39841	T	0.114391	0.77862	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	6.282361	0.94940	34	0.9336485367524372	0.23106	0.11002	0.16340	N	AEFDBI	.	.	.	-0.490236798326602	0.22401	1.19582	-0.851290835087319	0.13257	0.6866986	0.999857602433696	0.44174	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.72	-2.47	0.06070	-0.565000	0.06020	-0.375000	0.09580	-0.873000	0.02525	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.5053:0.2102:0.2845:0.0	9.988	0.41021	976	0.04745	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1116.98	38	chr14	96264526	.	C	T	1116.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.77;DP=1018;ExcessHet=0.0000;FS=1.653;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=-2.240e-01;SOR=0.522	GT:AD:DP:GQ:PL	0/1:51,44:95:99:1131,0,1211	20	0	1	0
chr14	96306827	96306827	A	G	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon30:c.T4393C:p.S1465P,	.	.	437	1058	27	0	0	27	0.0125992	.	.	1278856	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.24	T	0.0	B	0.0	B	0.024	N	1.000	N	-0.535	N	2.86	T	-0.949	T	0.003	T	0.054	0.183	4.984	1.65	-0.163	0.822	5.858	0.022	.	0.0005	0.0253594	0.0132	0.0004	0.0007	0.0484	0.0003	0.0005	0.0132	0.0681	0.0117528	1817	154602	rs143695335	0.0055	0.0055	0.0037	0.0074	0.0655	0.0054	0.0054	0.0641	0.0635	0.0003	0.0003	0.0033	0.0376	9.36e-05	0.0035	0.0003	0.0083	0.0655	0.0042	0.0043	0.0030	0.0056	0.0672	0.0040	0.0039	0.0612	0.0588	0.0003	0	0.0005	0.0032	0.0473	0.0002	0	0.0004	0.0090	0.0672	0.43	0.09543	T	0.308	0.19845	T	0.0	0.02946	B	0.0	0.01387	B	0.024030	0.26335	N	0.417057	1	0.08975	N	0.165	0.08973	N	2.86	0.10482	T	0.35	0.03761	N	0.076	0.05037	-0.9487	0.41194	T	0.003	0.00832	T	10	0.0015945137	0.00018	T	.	.	.	0.022	0.04323	.	.	.	.	0.1381996845717014	0.13743	0.21266184184	0.23769	0.365063548088	0.20120	T	2.6E-4	0.00060	T	-0.724645	0.00026	T	-0.763421	0.02991	T	0.000637627668924945	0.00006	T	0.0932907	0.00693	T	0.038570844	0.05163	0.0540184	0.09212	0.038570844	0.05163	0.0540184	0.09211	-3.801	0.20820	T	.	.	0.047	0.00069	B	.	.	1.440086	0.18595	13.82	0.90881235470006005	0.20130	0.10083	0.15686	N	AEFBI	0.027216	0.02186	N	-1.13594137804069	0.06015	0.2757641	-0.982597901156104	0.10175	0.5108628	0.818942216564629	0.24489	0.732398	0.92422	0	0.724815	0.89359	0	0.608884	0.39905	0	0.727631	0.95156	0	.	.	5.59	1.65	0.23015	0.860000	0.27527	3.035000	0.36058	-0.788000	0.03273	0.931000	0.32310	1.000000	0.68203	0.366000	0.26021	0.4271:0.1278:0.4452:0.0	5.858	0.17978	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1423.98	33	chr14	96306827	.	A	G	1423.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.92;DP=825;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=1.48;SOR=0.642	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1289	20	0	1	0
chr14	96316628	96316628	T	C	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon21:c.A3266G:p.N1089S,	.	.	442	1079	1	0	0	1	0.000463177	.	.	3218581	ATG2B-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.0	B	0.0	B	0.001	U	1.000	N	1.1	L	1.02	T	-1.136	T	0.033	T	0.029	1.825	12.06	-10.1	-2.049	-0.345	16.360	0.094	.	8.4e-05	0.00239617	0.0006	0.0001	0	0.0070	0	6.029e-05	0.0011	0.0007	0.0006468	100	154602	rs79425071	0.0007	0.0007	0.0006	0.0007	0.0204	0.0006	0.0006	0.0193	0.0188	0	0	0.0005	0.0204	0	0.0005	4.498e-05	0.0003	0.0008	0.0005	0.0005	0.0004	0.0005	0.0100	0.0004	0.0003	0.0079	0.0071	2.406e-05	0	0	0.0009	0.0100	0	0	7.35e-05	0	0.0019	0.163	0.23450	T	0.091	0.40110	T	0.0	0.02946	B	0.0	0.01387	B	0.000541	0.43581	U	0.146914	0.99999	0.08975	N	0	0.06538	N	1.02	0.40749	T	-0.66	0.19085	N	0.087	0.06454	-1.1364	0.01499	T	0.033	0.14290	T	10	0.0029176474	0.00047	T	.	.	.	0.094	0.27141	.	.	0.0954503805726	0.09146	0.09776781721915277	0.09707	0.131963620614	0.14876	0.285580992699	0.08282	T	0.003199	0.02606	T	-0.68301	0.00046	T	-0.750148	0.03480	T	0.0081635601971739	0.00097	T	0.764624	0.39166	T	0.02237829	0.00897	0.04430552	0.05711	0.02237829	0.00897	0.04430552	0.05711	-2.784	0.08037	T	.	.	0.050	0.00148	B	.	.	-0.319805	0.02531	0.303	0.69675964802500656	0.09049	0.06198	0.12183	N	AEFGBI	0.046483	0.07725	N	-1.49536575187024	0.01882	0.08258719	-1.57871306307474	0.01786	0.08127744	0.999999162950471	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.55	-10.1	0.00330	-0.354000	0.07731	-5.216000	0.01803	-0.703000	0.04025	0.000000	0.06391	0.000000	0.08366	0.981000	0.58702	0.0:0.6287:0.0895:0.2818	16.360	0.83090	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1135.98	34	chr14	96316628	.	T	C	1135.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.091;DP=786;ExcessHet=0.0000;FS=4.900;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=0.135;SOR=0.948	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1202	20	0	1	0
chr14	96328709	96328709	G	C	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon13:c.C1939G:p.L647V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.997	D	0.991	D	0.000	U	1.000	D	2.075	M	2.88	T	-1.167	T	0.084	T	0.524	4.134	21.3	5.84	2.779	6.934	20.147	0.190	0.0210505278955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.126	0.35205	T	0.997	0.70673	D	0.991	0.79672	D	0.000024	0.55875	U	0.000000	0.99996	0.52935	D	1.84	0.48285	L	2.88	0.10291	T	-1.24	0.31375	N	0.642	0.65416	-1.1675	0.00589	T	0.084	0.32814	T	10	0.61223567	0.67508	D	0.021051	0.43757	T	0.190	0.46781	0.198	0.11110	0.586816528483	0.58355	0.3201478662071291	0.31927	0.652725768522	0.58449	0.597697973251	0.52579	T	0.005137	0.04581	T	-0.0899762	0.38080	T	-0.367021	0.37237	T	0.884093582630157	0.53431	D	0.913309	0.69109	D	0.17750946	0.38721	0.15349935	0.36067	0.17750946	0.38720	0.15349935	0.36066	-4.522	0.31175	T	.	.	0.095	0.14888	B	.	.	5.100309	0.85214	28.5	0.99806771792025484	0.89085	0.98731	0.86131	D	AEFBI	0.733095	0.67964	D	0.75656352154125	0.83333	7.989826	0.766028455875063	0.87348	9.19159	0.999996270545633	0.74766	0.651	0.46895	0	0.601575	0.49859	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	7.339000	0.78520	11.847000	0.97966	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.147	0.98079	966	0.07191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	76.72	34	chr14	96328709	.	G	C	76.72	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-9.610e-01;DP=932;ExcessHet=0.3300;FS=122.093;InbreedingCoeff=-0.1451;MLEAC=3;MLEAF=0.088;MQ=60.00;MQRankSum=0.00;QD=0.56;ReadPosRankSum=0.114;SOR=9.490	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:27,6:33:10:.:.:0,10,809	14	0	3	4
chr14	96328715	96328715	G	C	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon13:c.C1933G:p.L645V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.802	P	0.184	B	0.000	U	0.999	D	1.79	L	2.78	T	-1.038	T	0.027	T	0.612	3.086	16.30	5.84	2.779	5.501	14.927	0.089	0.0109553308418	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.86e-07	1.71e-05	1.365e-06	0	9.013e-07	0	0	.	.	0	0	0	0	0	0	9.013e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.157	0.31730	T	0.802	0.45105	P	0.184	0.35999	B	0.000461	0.44317	U	0.093440	0.99902	0.45899	D	1.355	0.33814	L	2.78	0.11298	T	-0.8	0.22078	N	0.43	0.46928	-1.0376	0.18048	T	0.027	0.11529	T	10	0.27002215	0.44531	T	0.010955	0.28062	T	0.089	0.25827	0.241	0.17371	0.481321013822	0.47762	0.285937600743724	0.28506	0.652725768522	0.58449	0.546917438507	0.45422	T	0.001307	0.00783	T	-0.0890419	0.38234	T	-0.365679	0.37394	T	0.912488400936127	0.56841	D	0.844016	0.52137	T	0.1511111	0.34369	0.108453274	0.26125	0.1511111	0.34368	0.108453274	0.26125	-4.536	0.31356	T	.	.	0.093	0.14108	B	.	.	3.546023	0.49826	22.8	0.99518916642557653	0.69100	0.97778	0.77065	D	AEFBI	0.585571	0.58394	D	0.354162227763407	0.58958	4.071638	0.464947464439595	0.65682	4.854823	0.999992539104278	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	5.885000	0.69480	11.847000	0.97966	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.857:0.143	14.927	0.70531	966	0.07191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	73.55	37	chr14	96328715	.	G	C	73.55	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.987e+00;DP=871;ExcessHet=0.3300;FS=110.264;InbreedingCoeff=-0.1186;MLEAC=3;MLEAF=0.079;MQ=60.00;MQRankSum=0.00;QD=0.55;ReadPosRankSum=0.178;SOR=8.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:32,4:36:47:.:.:0,47,1008	16	0	3	2
chr14	96331530	96331530	G	C	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon11:c.C1576G:p.P526A,	.	.	439	1056	27	0	0	27	0.0126227	.	.	1169613	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.11	T	0.244	B	0.078	B	0.000	U	1.000	D	0.975	L	2.9	T	-1.055	T	0.007	T	0.494	3.288	17.04	5.5	2.748	6.858	19.758	0.149	.	0.0005	0.0259585	0.0135	0.0003	0.0007	0.0519	0.0003	0.0004	0.0144	0.0682	0.0119662	1850	154602	rs146022217	0.0056	0.0056	0.0038	0.0074	0.0657	0.0055	0.0055	0.0642	0.0636	0.0003	0.0003	0.0033	0.0398	9.36e-05	0.0035	0.0003	0.0083	0.0657	0.0044	0.0044	0.0031	0.0058	0.0672	0.0041	0.0040	0.0612	0.0588	0.0003	0	0.0005	0.0032	0.0523	0.0002	0	0.0004	0.0090	0.0672	0.034	0.44029	D	0.415	0.14326	T	0.244	0.31025	B	0.078	0.28627	B	0.000002	0.62929	U	0.000000	1	0.81001	D	2.175	0.60977	M	2.9	0.10101	T	-2.42	0.53096	N	0.197	0.21710	-1.0549	0.13066	T	0.007	0.02598	T	10	0.0024820566	0.00037	T	.	.	.	0.149	0.39377	.	.	.	.	0.3774704168572004	0.37662	0.17007679262	0.19178	0.470115423203	0.34696	T	0.003822	0.03232	T	-0.440318	0.01288	T	-0.355005	0.38630	T	0.0708420105264532	0.08768	T	0.858314	0.54891	D	0.08489154	0.19669	0.14316234	0.34033	0.08489154	0.19669	0.14316234	0.34032	-4.295	0.28107	T	.	.	0.073	0.04599	B	.	.	3.287399	0.45070	22.1	0.97816794454440448	0.36168	0.98779	0.86744	D	AEFBI	0.534159	0.55331	D	0.190294975503276	0.50732	3.260575	0.364883056087187	0.59410	4.118486	0.999999999993741	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.731467	0.93227	0	0.727631	0.95156	0	.	.	5.5	5.5	0.81386	6.948000	0.75768	8.640000	0.77890	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:1.0:0.0	19.758	0.96297	967	0.07127	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1344.98	40	chr14	96331530	.	G	C	1344.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.305;DP=968;ExcessHet=0.0000;FS=3.457;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=-3.240e+00;SOR=0.415	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr14	99257616	99257616	G	T	exonic	BCL11B	.	nonsynonymous SNV	BCL11B:NM_001282237:exon2:c.C279A:p.D93E	.	.	.	.	.	.	.	.	.	.	.	1897976	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.3	T	0.429	B	0.051	B	0.013	N	1.000	D	1.525	L	2.58	T	-1.030	T	0.023	T	0.377	3.671	18.65	3.6	1.335	1.217	4.796	0.050	0.0039326788737	.	0.000798722	0.0006	0	8.642e-05	0	0	0	0	0.0041	0.0004657	72	154602	rs570461424	0.0003	0.0003	0.0001	0.0004	0.0044	0.0002	0.0002	0.0040	0.0039	0	0	0	0	0	0	8.994e-07	0.0001	0.0044	0.0001	0.0001	7.71e-05	0.0002	0.0041	8.662e-05	7.254e-05	0.0027	0.0023	0	0	0	0	0	0	0	0	0	0.0041	0.127	0.28520	T	0.543	0.11041	T	0.429	0.35556	B	0.05	0.25434	B	0.013315	0.28882	N	0.201473	0.968714	0.81001	D	1.355	0.33814	L	2.51	0.14284	T	-2.18	0.50175	N	0.251	0.39861	-1.0296	0.20583	T	0.023	0.09604	T	10	0.0068876147	0.00156	T	0.003933	0.09274	T	0.050	0.13987	0.269	0.21735	0.595711969413	0.59250	0.17752907044718652	0.17671	0.464731469048	0.45933	0.589256823063	0.51388	T	0.328872	0.69924	T	-0.482191	0.00718	T	-0.465144	0.26041	T	0.0548658057249467	0.06334	T	0.773323	0.40460	T	0.09210878	0.21599	0.12500615	0.30124	0.09210878	0.21599	0.12500615	0.30123	-8.719	0.65870	D	.	.	0.104	0.31482	B	.;.	.;.	1.937470	0.24609	16.46	0.99686050461114495	0.79574	0.85910	0.45099	D	AEFDBI	0.261685	0.37958	N	-0.0985237318334828	0.37457	2.179474	0.0342071318585576	0.41316	2.480085	0.999940312670506	0.47345	0.516011	0.20929	0	0.610034	0.51514	0	0.527494	0.11647	0	0.542086	0.14980	0	.	.	5.89	3.6	0.40374	2.485000	0.44909	2.326000	0.32165	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.4671:0.0:0.5329:0.0	4.796	0.12641	978	0.04198	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1859.98	33	chr14	99257616	.	G	T	1859.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.800e-02;DP=844;ExcessHet=0.0000;FS=3.203;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.53;ReadPosRankSum=-5.430e-01;SOR=0.716	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1275	20	0	1	0
chr14	99458347	99458347	T	C	exonic	SETD3	.	nonsynonymous SNV	SETD3:NM_032233:exon6:c.A607G:p.I203V	.	.	.	.	.	.	.	.	.	.	.	2444227	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.28	T	0.0	B	0.002	B	0.000	N	0.999	N	1.055	L	2.69	T	-1.010	T	0.022	T	0.11	0.834	8.366	-2.46	-0.618	0.781	11.243	0.067	0.00529414882968	7.7e-05	0.000199681	2.471e-05	0	8.637e-05	0	0	2.997e-05	0	0	4.53e-05	7	154602	rs200956499	5.199e-05	5.199e-05	4.9e-05	5.5e-05	0.0007	4.258e-05	3.888e-05	0.0002	0.0001	2.987e-05	0.0001	0.0006	5.038e-05	0	0.0007	3.957e-05	3.311e-05	2.319e-05	7.881e-05	7.874e-05	6.426e-05	9.4e-05	0.0003	4.494e-05	3.51e-05	8.872e-05	5.283e-05	2.407e-05	0	0.0003	0.0006	0	0	0	7.35e-05	0	0	0.259	0.16628	T	0.218	0.39190	T	0.0	0.02946	B	0.001	0.06944	B	0.000360	0.45440	N	0.218241	0.999383	0.21275	N	0.53	0.13656	N	2.69	0.12268	T	-0.54	0.17834	N	0.196	0.22998	-1.0104	0.26791	T	0.022	0.09375	T	10	0.04282406	0.03069	T	0.005294	0.13525	T	0.067	0.19503	.	.	0.130388298395	0.12655	0.13949378999332188	0.13872	0.67202664392	0.59506	0.369704216719	0.20789	T	0.032679	0.22592	T	-0.478983	0.00750	T	-0.670756	0.07560	T	0.0139188813045621	0.00266	T	0.759024	0.38317	T	0.06884654	0.15034	0.07658295	0.16976	0.06884654	0.15033	0.07658295	0.16976	-5.528	0.42425	T	.	.	0.071	0.06341	B	.;.;.	.;.;.	0.468502	0.08381	5.135	0.61377622545606569	0.06694	0.28081	0.23456	N	AEFBI	0.083047	0.16822	N	-1.01296947841192	0.08334	0.3904035	-0.996641043716775	0.09860	0.4930702	0.991027946851516	0.32347	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.6	-2.46	0.06089	0.774000	0.26337	-0.246000	0.10547	-0.119000	0.14319	0.484000	0.26832	0.000000	0.08366	0.936000	0.47498	0.0:0.3741:0.0:0.6259	11.243	0.48209	987	0.02648	SET domain|SET domain;.;SET domain|SET domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1325.98	33	chr14	99458347	.	T	C	1325.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=817;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=-4.750e-01;SOR=0.666	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1161	20	0	1	0
chr14	99659598	99659598	C	A	exonic	HHIPL1	.	nonsynonymous SNV	HHIPL1:NM_001127258:exon4:c.C1217A:p.P406H	.	.	435	1086	1	0	0	1	0.000460193	.	.	2732260	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	3.645	H	4.64	T	-0.331	T	0.230	T	0.461	2.992	15.98	4.88	2.276	4.691	18.067	0.208	0.365589107315	.	0.000199681	0.0002	0.0018	0	0	0	0.0002	0	0	5.82e-05	9	154602	rs572979321	6.792e-05	7.593e-05	5.793e-05	7.815e-05	0.0007	5.673e-05	5.269e-05	0.0004	0.0004	0.0006	0.0002	0	0	0	0.0007	5.261e-05	0.0001	2.528e-05	0.0001	0.0001	0.0001	0.0002	0.0004	9.738e-05	8.253e-05	0.0002	0.0002	0.0004	0	0.0002	0	0	0	0.0034	2.941e-05	0	0	0.009	0.57480	D	0.005	0.72224	D	1.0	0.90584	D	0.996	0.84481	D	0.000012	0.62929	D	0.067877	0.999933	0.51612	D	3.625	0.93960	H	4.64	0.18875	T	-7.3	0.94484	D	0.513	0.55799	-0.3310	0.74104	T	0.230	0.59620	T	10	0.31580877	0.49008	T	0.365589	0.92620	D	0.208	0.49714	.	.	0.513337797588	0.50974	0.729191064923184	0.72864	1.34284182334	0.83896	0.616675496101	0.55259	T	0.186551	0.53987	T	-0.328098	0.06256	T	-0.350486	0.39149	T	0.739514887332916	0.42711	D	0.813919	0.47523	T	0.444529	0.63693	0.5210325	0.72327	0.444529	0.63694	0.5210325	0.72328	-11.829	0.84008	D	.	.	0.203	0.42749	B	.;.	.;.	3.571419	0.50303	22.9	0.9957481467178414	0.72621	0.96672	0.70327	D	AEFDBCI	0.631823	0.61266	D	0.645575458967968	0.76081	6.421466	0.481542429018715	0.66767	4.995215	0.999999998638777	0.74766	0.59774	0.34471	0	0.615948	0.52940	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.88	4.88	0.63131	4.767000	0.61983	2.030000	0.30249	-0.259000	0.06933	0.999000	0.42656	0.964000	0.29435	0.041000	0.14368	0.0:1.0:0.0:0.0	18.067	0.89321	931	0.16308	Glucose/Sorbosone dehydrogenase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1770.98	47	chr14	99659598	.	C	A	1770.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.904e+00;DP=951;ExcessHet=0.0000;FS=5.140;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=0.731;SOR=0.444	GT:AD:DP:GQ:PL	0/1:63,75:138:99:1785,0,1670	20	0	1	0
chr14	100123541	100123541	C	A	exonic	EVL	.	nonsynonymous SNV	EVL:NM_001330221:exon4:c.C355A:p.P119T	.	.	426	1091	5	0	0	5	0.00228624	.	.	2378848	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.997	D	0.000	D	1.000	D	2.495	M	0.41	T	0.292	D	0.633	D	0.532	3.411	17.52	5.22	2.432	3.518	15.488	0.314	0.112617856443	0.0002	0.000399361	0.0002	0	0.0003	0	0	0.0002	0	0.0006	0.0001746	27	154602	rs141817237	0.0001	0.0001	0.0001	0.0002	0.0019	0.0001	0.0001	0.0011	0.0008	0	0.0001	0.0007	2.519e-05	0	0.0019	8.634e-05	0.0003	0.0006	0.0001	0.0001	0.0001	8.058e-05	0.0002	7.087e-05	5.744e-05	0.0001	7.895e-05	0	0	0	0.0006	0	0	0.0068	0.0002	0	0.0002	0.004	0.91255	D	0.051	0.52060	T	0.201	0.90584	B	0.118	0.86255	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.535	0.73915	M	-0.69	0.78860	T	-5.77	0.91609	D	0.477	0.55106	0.292	0.87427	D	0.633	0.87127	D	10	0.14647883	0.27771	T	0.112618	0.79083	D	0.314	0.63588	.	.	0.733819335902	0.73144	0.2953604586173116	0.29449	0.662172756864	0.58958	0.480947971344	0.36187	T	0.65838	0.89718	D	-0.128531	0.31733	T	-0.0649176	0.65987	T	0.713741898536682	0.41384	D	0.893211	0.91493	D	0.59055734	0.72181	0.43985692	0.67324	0.59055734	0.72182	0.43985692	0.67325	-9.041	0.67961	D	.	.	0.070	0.08997	B	.;.;.;.;.;.	.;.;.;.;.;.	3.943087	0.57716	23.9	0.99331312211431155	0.59777	0.96475	0.69324	D	AEFDBI	0.485392	0.52500	N	0.533543245372391	0.69087	5.307397	0.541970309419874	0.70841	5.564801	0.999999999980973	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.693117	0.63056	0	0.727631	0.95156	0	.	.	5.22	5.22	0.72285	3.746000	0.54846	4.794000	0.44921	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	15.488	0.75310	970	0.06235	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2077.11	34	chr14	100123541	.	C	A	2077.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.034e+00;DP=816;ExcessHet=0.1072;FS=3.574;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.36;ReadPosRankSum=-6.190e-01;SOR=0.467	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1186	19	0	2	0
chr14	100327248	100327248	G	A	exonic	SLC25A47	.	nonsynonymous SNV	SLC25A47:NM_207117:exon4:c.G205A:p.V69M,	.	.	417	1102	3	0	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.968	D	0.893	P	0.001	N	1.000	D	2.17	M	-1.39	T	0.009	D	0.566	D	0.354	2.701	14.99	1.95	0.238	1.963	9.238	0.539	0.0999623187801	0.0002	.	4.966e-05	0	0	0	0.0002	7.524e-05	0	0	5.17e-05	8	154602	rs149858549	4.599e-05	5.404e-05	5.056e-05	4.138e-05	0.0007	3.674e-05	3.359e-05	0.0002	0.0001	0.0001	8.947e-05	0	0	6.193e-05	0.0007	4.137e-05	4.971e-05	3.478e-05	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0006	0.0005	0.0002	0	0.0010	0	0	9.418e-05	0	4.409e-05	0	0	0.033	0.44358	D	0.041	0.50514	D	0.968	0.56581	D	0.893	0.63340	P	0.000572	0.43250	N	0.234460	0.998891	0.81001	D	2.31	0.66127	M	-1.39	0.80387	T	-1.57	0.37955	N	0.657	0.66700	0.009	0.82437	D	0.566	0.84244	D	10	0.71197873	0.73103	D	0.099962	0.77193	D	0.539	0.80723	.	.	0.523082183605	0.51953	0.5194557174897618	0.51868	0.42459538528	0.42886	0.60348379612	0.53396	T	0.070217	0.33904	T	-0.0902662	0.38033	T	-0.130769	0.60906	T	0.505360066890717	0.32826	D	0.935106	0.75644	D	0.118273415	0.27869	0.21629137	0.46251	0.118273415	0.27868	0.21629137	0.46250	-6.444	0.49852	T	.	.	0.146	0.32178	B	.	.	3.608622	0.51007	23.0	0.9979911635874722	0.88372	0.86452	0.45735	D	AEFDBI	0.702013	0.65852	D	0.126508252388431	0.47702	2.992222	-0.0206767504544943	0.38783	2.28986	0.999582919036644	0.40607	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.85	1.95	0.25130	2.598000	0.45887	3.035000	0.36058	0.614000	0.49286	0.998000	0.41325	0.999000	0.35428	0.114000	0.18915	0.078:0.4202:0.5018:0.0	9.238	0.36638	933	0.16026	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	612.98	34	chr14	100327248	.	G	A	612.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.000e-03;DP=783;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.30;ReadPosRankSum=-1.910e-01;SOR=0.748	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1099	20	0	1	0
chr14	100329532	100329532	C	T	exonic	SLC25A47	.	nonsynonymous SNV	SLC25A47:NM_001350877:exon6:c.C376T:p.R126W	.	.	424	1094	4	0	0	4	0.00182482	.	.	2389834	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.988	D	0.893	P	0.001	N	1.000	N	2.965	M	-1.44	T	-0.103	T	0.574	D	0.482	2.708	15.02	-8.0	-1.096	0.855	11.156	0.394	0.217340558887	0.0005	0.000199681	0.0004	0	0.0002	0	0.0002	0.0006	0	0.0007	0.0004204	65	154602	rs145556108	0.0005	0.0005	0.0005	0.0005	0.0043	0.0005	0.0005	0.0030	0.0026	0.0002	0.0003	0	0	5.68e-05	0.0043	0.0006	0.0006	0.0005	0.0004	0.0004	0.0004	0.0003	0.0006	0.0003	0.0003	0.0005	0.0004	4.812e-05	0	0.0003	0	0	0	0.0068	0.0006	0.0005	0.0006	0.019	0.51248	D	0.018	0.62352	D	0.988	0.62325	D	0.893	0.63340	P	0.001467	0.38917	N	0.290655	0.999999	0.08975	N	3.015	0.86134	M	-1.44	0.80815	T	-4.29	0.76414	D	0.313	0.35620	-0.1032	0.80025	T	0.574	0.84621	D	10	0.15278307	0.28853	T	0.217341	0.87604	D	0.394	0.70924	.	.	0.572382287006	0.56905	0.7280094550820942	0.72744	0.794022330084	0.65958	0.375985443592	0.21687	T	0.379694	0.74239	T	-0.1763	0.24288	T	-0.111524	0.62489	T	0.558389067649841	0.34794	D	0.950805	0.83415	D	0.14690569	0.33607	0.22519067	0.47456	0.14690569	0.33607	0.22519067	0.47455	-6.969	0.53807	T	.	.	0.104	0.28778	B	.;.	.;.	2.608920	0.33880	19.47	0.99572187192063788	0.72440	0.12758	0.17462	N	AEFDGBCI	0.790903	0.71966	D	-0.572220325920196	0.19793	1.038631	-0.921737755362056	0.11582	0.5909028	0.999999989121219	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.38	-8.0	0.00995	1.182000	0.31639	-0.520000	0.08695	-1.001000	0.01808	0.039000	0.20931	0.000000	0.08366	0.012000	0.09680	0.7503:0.1133:0.0717:0.0648	11.156	0.47712	933	0.16026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1378.98	33	chr14	100329532	.	C	T	1378.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.18;DP=821;ExcessHet=0.0000;FS=4.998;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.79;ReadPosRankSum=0.269;SOR=1.021	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1285	20	0	1	0
chr14	100329641	100329641	C	T	exonic	SLC25A47	.	nonsynonymous SNV	SLC25A47:NM_001350877:exon6:c.C485T:p.T162I	.	.	425	1077	20	0	0	20	0.00919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.047	B	0.017	B	0.410	N	1.000	N	0	N	-1.48	T	-0.804	T	0.200	T	0.328	1.586	11.26	3.96	0.972	.	10.355	0.239	.	0.0072	0.00199681	0.0071	0.0019	0.0048	0	0.0136	0.0096	0.0094	0.0018	0.0067787	1048	154602	rs139864899	0.0084	0.0084	0.0084	0.0085	0.0097	0.0083	0.0083	0.0094	0.0093	0.0015	0.0063	0.0018	0	0.0132	0.0097	0.0095	0.0068	0.0023	0.0077	0.0077	0.0076	0.0078	0.0111	0.0073	0.0072	0.0101	0.0098	0.0016	0.0186	0.0111	0.0020	0	0.0146	0.0034	0.0107	0.0085	0.0017	0.0	0.91255	D	0.0	0.92824	D	0.047	0.21998	B	0.017	0.18140	B	0.410159	0.13008	N	0.720818	1	0.08975	N	1.735	0.44892	L	-1.48	0.81478	T	-1.9	0.46673	N	0.202	0.22357	-0.8045	0.54879	T	0.200	0.55541	T	10	0.0062085986	0.00140	T	.	.	.	0.239	0.54358	.	.	0.390687800842	0.38684	0.6245740722323257	0.62390	0.459948358211	0.45555	0.438351333141	0.30352	T	0.006668	0.06097	T	-0.277208	0.10966	T	-0.161571	0.58210	T	0.0913713723883252	0.11380	T	0.465053	0.13602	T	0.1960774	0.41421	0.39776215	0.64383	0.1960774	0.41421	0.39776215	0.64383	-6.072	0.46877	T	.	.	0.128	0.43544	B	.;.	.;.	1.700644	0.21659	15.30	0.9948341518441387	0.67014	0.11161	0.16449	N	AEFDBCI	0.599143	0.59227	D	-0.831023090562045	0.12521	0.6108924	-0.79779026650485	0.14549	0.7607732	0.99988755421366	0.44867	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.88	3.96	0.45097	1.125000	0.30946	0.197000	0.15809	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.034000	0.13613	0.3951:0.6049:0.0:0.0	10.355	0.43139	933	0.16026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	773.98	33	chr14	100329641	.	C	T	773.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.289e+00;DP=782;ExcessHet=0.0000;FS=2.278;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.73;ReadPosRankSum=3.22;SOR=0.418	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1285	20	0	1	0
chr14	100381057	100381057	C	T	exonic	WDR25	.	nonsynonymous SNV	WDR25:NM_001161476:exon2:c.C133T:p.P45S	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.005	B	0.004	B	0.155	N	1.000	N	0.97	L	2.31	T	-1.058	T	0.101	T	0.114	1.093	9.459	1.31	0.678	-0.379	3.142	0.041	0.00982125296958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.301	0.15149	T	0.313	0.19782	T	0.005	0.12996	B	0.004	0.10090	B	0.155084	0.17841	N	0.513759	1	0.08975	N	1.095	0.27400	L	0.32	0.58468	T	-0.76	0.33798	N	0.087	0.06454	-1.0582	0.12209	T	0.101	0.37493	T	10	0.06455743	0.08579	T	0.009821	0.25608	T	0.041	0.10877	0.33	0.31519	0.204665344411	0.20097	0.10467035544940352	0.10397	0.0543178648158	0.06005	0.218153387308	0.01205	T	0.002194	0.01594	T	-0.227099	0.17035	T	-0.563989	0.16004	T	0.0364569388329983	0.03060	T	0.640436	0.25296	T	0.022835113	0.00976	0.023125151	0.00328	0.022835113	0.00975	0.023125151	0.00328	-3.245	0.13038	T	.	.	0.069	0.14477	B	.;.;.;.	.;.;.;.	-0.059965	0.03885	0.849	0.649461334380807	0.07634	0.05482	0.11366	N	AEFBI	0.079670	0.16095	N	-0.890558123708206	0.11066	0.5320731	-0.902422674377265	0.12037	0.6168691	0.999661052992717	0.41534	0.736574	0.97449	0	0.633656	0.55848	0	0.732669	0.93749	0	0.655142	0.61905	0	.	.	5.53	1.31	0.20837	-0.317000	0.08101	0.272000	0.16669	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1687:0.4018:0.3329:0.0966	3.142	0.06071	932	0.16191	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1566.98	36	chr14	100381057	.	C	T	1566.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.086;DP=824;ExcessHet=0.0000;FS=3.187;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=0.474;SOR=1.020	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1224	20	0	1	0
chr14	100539225	100539225	C	T	exonic	BEGAIN	.	nonsynonymous SNV	BEGAIN:NM_001385100:exon5:c.G442A:p.D148N	.	.	426	1093	3	0	0	3	0.00137049	.	.	725551	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.996	D	0.000	D	1.000	D	2.22	M	0.62	T	-0.476	T	0.227	T	0.151	2.976	15.92	4.1	1.831	4.710	16.317	0.232	.	0.0050	0.00139776	0.0060	0.0020	0.0008	0	0.0102	0.0088	0.0044	0.0016	0.0049094	759	154602	rs35286207	0.0061	0.0060	0.0063	0.0059	0.0071	0.0060	0.0059	0.0069	0.0069	0.0012	0.0009	0.0002	0	0.0089	0.0014	0.0071	0.0048	0.0014	0.0040	0.0040	0.0043	0.0037	0.0064	0.0037	0.0036	0.0059	0.0057	0.0015	0	0.0019	0.0006	0	0.0060	0	0.0064	0.0047	0.0014	0.057	0.37966	T	0.032	0.53426	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	0.62	0.53302	T	-3.07	0.66325	D	0.503	0.53532	-0.4758	0.69519	T	0.227	0.59196	T	10	0.007803142	0.00177	T	.	.	.	0.232	0.53354	.	.	0.72841694373	0.72600	0.3343493556656914	0.33347	1.2746776462	0.82377	0.594021260738	0.52061	T	0.369316	0.73405	T	-0.451186	0.01112	T	-0.415747	0.31564	T	0.00721857485333095	0.00083	T	0.963304	0.86656	D	0.2807056	0.51117	0.27013963	0.52902	0.2807056	0.51116	0.27013963	0.52901	-9.272	0.69431	D	.	.	0.139	0.38836	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.733984	0.53434	23.4	0.99685668445142439	0.79574	0.92040	0.54812	D	AEFBI	0.675372	0.64078	D	0.4640185274013	0.65002	4.768082	0.34840748579001	0.58411	4.011496	0.999999999997135	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.1	4.1	0.47196	3.963000	0.56480	5.764000	0.49701	0.587000	0.30956	0.998000	0.41325	1.000000	0.68203	0.122000	0.19250	0.0:1.0:0.0:0.0	16.317	0.82761	887	0.27948	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3741.08	41	chr14	100539225	.	C	T	3741.08	.	AC=2;AF=0.048;AN=42;DP=923;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.66;SOR=1.207	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	1	0	0
chr14	100587263	100587263	G	C	exonic	BEGAIN	.	nonsynonymous SNV	BEGAIN:NM_001385085:exon1:c.C28G:p.R10G	.	.	558	961	3	0	0	3	0.00155844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.969	T	0.171	T	0.399	2.550	14.49	0.831	0.060	0.180	6.002	0.045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.29	0.32387	N	.	.	-0.9694	0.37324	T	0.171	0.51229	T	4	0.12526	0.23801	T	.	.	.	0.045	0.12272	0.242	0.17524	0.043077524339	0.03247	.	.	.	.	.	.	.	.	.	.	-0.0240579	0.48273	T	-0.272334	0.47583	T	0.719987763782171	0.41698	D	0.312569	0.06116	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.37671	B	.	.	3.971745	0.58326	24.0	0.99403843101357214	0.62934	0.00530	0.02456	N	AEFDBHCIJ	0.054861	0.10012	N	-0.435454299744414	0.24236	1.307211	-0.548687741009161	0.20841	1.124706	0.999991426002264	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	1.85	0.831	0.17995	1.348000	0.33592	4.081000	0.41738	0.455000	0.21489	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.0:0.6965:0.3035	6.002	0.18756	884	0.28482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	95.4	2	chr14	100587263	.	G	C	95.4	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.030e-01;DP=245;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0465;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=0.00;SOR=0.582	GT:AD:DP:GQ:PL	0/0:14,0:14:39:0,39,585	20	0	1	0
chr14	100881145	100881145	C	T	exonic	RTL1	.	nonsynonymous SNV	RTL1:NM_001134888:exon4:c.G3644A:p.R1215H,	.	.	426	1087	9	0	0	9	0.00412277	.	.	713997	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.865	P	0.124	B	0.020	N	1.000	N	0.345	N	1.97	T	-1.047	T	0.015	T	0.142	0.898	8.648	-1.5	-0.311	-0.655	0.356	0.024	.	0.0050	0.00219649	0.0083	0.0010	0.0039	0.0019	0.0084	0.0126	0.0040	0.0055	0.0040038	619	154602	rs61993318	0.0071	0.0070	0.0073	0.0069	0.0080	0.0070	0.0070	0.0079	0.0078	0.0010	0.0025	0.0040	0.0016	0.0078	0.0046	0.0080	0.0072	0.0032	0.0056	0.0056	0.0059	0.0051	0.0085	0.0052	0.0051	0.0079	0.0077	0.0012	0.0779	0.0016	0.0037	0.0017	0.0072	0.0068	0.0085	0.0043	0.0025	0.522	0.07211	T	0.553	0.09329	T	.	.	.	.	.	.	0.019578	0.01513	N	3.476170	1	0.08975	N	1.355	0.33814	L	1.97	0.22067	T	0.23	0.04613	N	0.023	0.00407	-1.0470	0.15246	T	0.015	0.06234	T	10	0.0047321916	0.00100	T	.	.	.	0.024	0.04979	.	.	0.0806252709748	0.07271	0.3417523608304077	0.34088	0.738338173427	0.63105	0.300860255957	0.10529	T	0.113543	0.43066	T	-0.646418	0.00076	T	-0.690923	0.06335	T	0.00277857098649546	0.00029	T	0.40256	0.10281	T	0.018201793	0.00341	0.02078511	0.00155	0.018201793	0.00341	0.02078511	0.00155	-4.131	0.25745	T	.	.	0.083	0.09433	B	.;.	.;.	-0.161467	0.03293	0.568	0.92677944376055932	0.22162	0.00553	0.02530	N	AEFBI	.	.	.	-0.987708182115567	0.08865	0.4173408	-1.13523925921189	0.07036	0.3407781	0.0060643537236262	0.11119	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.33	-1.5	0.08233	-1.258000	0.02973	-5.640000	0.01646	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.1952:0.3101:0.1918:0.3028	0.356	0.00331	842	0.36989	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3183.98	52	chr14	100881145	.	C	T	3183.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=1019;ExcessHet=0.0000;FS=2.232;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.27;ReadPosRankSum=-4.060e-01;SOR=0.862	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1147	20	0	1	0
chr14	100881437	100881437	G	A	exonic	RTL1	.	nonsynonymous SNV	RTL1:NM_001134888:exon4:c.C3352T:p.P1118S,	.	.	430	1083	9	0	0	9	0.00413793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.965	D	.	.	0.988	N	0.895	L	1.68	T	-1.078	T	0.092	T	0.297	4.200	21.8	3.11	2.030	3.558	9.951	0.069	0.0223086008605	.	.	0.0008	0	0	0	0	0.0003	0	0.0018	0.0001552	24	154602	rs371727033	0.0003	0.0003	0.0003	0.0004	0.0067	0.0003	0.0003	0.0050	0.0044	0.0002	0.0004	0.0001	2.798e-05	0	0.0067	0.0002	0.0006	0.0022	0.0002	0.0002	0.0002	0.0003	0.0017	0.0002	0.0001	0.0008	0.0006	2.405e-05	0	0.0004	0.0003	0	0	0.0034	0.0002	0.0005	0.0017	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.987634	0.24496	N	1.7	0.43825	L	1.68	0.27184	T	-5.14	0.83292	D	0.248	0.28028	-1.0784	0.07661	T	0.092	0.35228	T	9	0.03666666	0.01978	T	0.022309	0.45185	T	0.069	0.20116	.	.	0.542764462858	0.53929	0.7246781867612822	0.72411	0.760933052735	0.64261	0.389236688614	0.23563	T	0.536222	0.84039	D	-0.461609	0.00960	T	-0.449076	0.27799	T	0.180993929591221	0.19297	T	0.489851	0.15048	T	0.29284504	0.52256	0.44669738	0.67775	0.29284504	0.52256	0.44669738	0.67775	-3.828	0.21223	T	.	.	0.116	0.26607	B	.;.	.;.	2.832361	0.37348	20.5	0.99802878321992239	0.88728	0.90123	0.51056	D	AEFDBI	.	.	.	0.217158434969505	0.52031	3.379929	0.112501460012062	0.45187	2.786348	0.995388041244918	0.34098	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.11	3.11	0.34883	3.061000	0.49656	3.628000	0.39306	0.618000	0.50648	0.994000	0.38300	0.989000	0.31174	0.515000	0.29359	0.0:0.0:1.0:0.0	9.951	0.40806	842	0.36989	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1213.98	52	chr14	100881437	.	G	A	1213.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.960e-01;DP=957;ExcessHet=0.0000;FS=2.707;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=0.869;SOR=0.613	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1147	20	0	1	0
chr14	101561562	101561562	G	T	exonic	DIO3	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1195.98	34	chr14	101561562	.	G	T	1195.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.441;DP=796;ExcessHet=0.0000;FS=3.192;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.41;ReadPosRankSum=0.196;SOR=1.146	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,994	20	0	1	0
chr14	102084824	102084826	TCT	-	exonic	HSP90AA1	.	nonframeshift deletion	HSP90AA1:NM_005348:exon5:c.836_838del:p.K279del	.	.	0	223	3	0	0	3	0.00668151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	9.731e-05	0.0007	0.0001	0	7.636e-05	0	0.0002	0.0001423	22	154602	rs755646384	0.0018	0.0092	0.0019	0.0017	0.0030	0.0017	0.0017	0.0025	0.0023	0.0021	0.0029	0.0007	0.0006	0.0002	0.0030	0.0019	0.0015	0.0008	0.0008	0.0009	0.0009	0.0007	0.0014	0.0007	0.0006	0.0011	0.0010	0.0014	0	0.0013	0.0003	0.0010	0.0003	0.0102	0.0004	0.0014	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	12086.07	40	chr14	102084823	.	ATCT	A	12086.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.506;DP=1897;ExcessHet=0.1072;FS=1.123;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.79;MQRankSum=-7.964e+00;QD=19.09;ReadPosRankSum=0.013;SOR=0.802	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	19	0	2	0
chr14	102085363	102085363	C	G	exonic	HSP90AA1	.	nonsynonymous SNV	HSP90AA1:NM_005348:exon4:c.G598C:p.E200Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.996	D	0.982	D	0.000	U	1.000	D	3.475	M	2.72	T	-0.613	T	0.150	T	0.656	4.120	21.2	4.29	2.121	5.891	17.117	0.345	0.024373304621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.56456	D	0.091	0.47828	T	0.976	0.68779	D	0.932	0.73562	D	0.000000	0.84330	U	0.000000	1	0.81001	D	.	.	.	2.72	0.11947	T	-2.66	0.58569	D	0.761	0.75927	-0.6133	0.64267	T	0.150	0.47699	T	10	0.7367568	0.74674	D	0.024373	0.47357	T	0.345	0.66676	0.567	0.68901	0.594341913235	0.59113	0.41123214595710106	0.41039	.	.	0.742223501205	0.73300	T	0.29022	0.66299	T	0.00102647	0.51796	T	-0.236302	0.51158	T	0.972918689250946	0.69886	D	0.957004	0.83719	D	0.76636237	0.81830	0.5145693	0.71952	0.76636237	0.81832	0.5145693	0.71952	-13.704	0.92055	D	.	.	0.613	0.80085	P	.;.;.	.;.;.	4.544981	0.71481	25.7	0.99394601590948628	0.62519	0.95657	0.65605	D	AEFDBCI	0.871904	0.79352	D	0.822631910386071	0.87498	9.239389	0.715145774961174	0.83528	8.045469	1.0	0.98316	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	4.29	4.29	0.50359	7.697000	0.83509	7.677000	0.65097	0.511000	0.23309	1.000000	0.71638	1.000000	0.68203	0.901000	0.43729	0.0:1.0:0.0:0.0	17.117	0.86570	840	0.37365	Heat shock protein Hsp90, N-terminal;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1406.98	40	chr14	102085363	.	C	G	1406.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.33;DP=1225;ExcessHet=0.0000;FS=0.684;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.35;ReadPosRankSum=1.56;SOR=0.801	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	20	0	1	0
chr14	102452520	102452520	A	G	exonic	TECPR2	.	nonsynonymous SNV	TECPR2:NM_001172631:exon16:c.A3533G:p.Q1178R	Spastic paraplegia 49, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.005	B	0.006	B	0.010	N	0.765	N	0	N	2.52	T	-0.976	T	0.014	T	0.123	1.256	10.09	3.74	0.540	2.714	6.278	0.056	0.0105312036959	.	.	7.858e-05	0	0	0	0	0	0	0.0006	5.17e-05	8	154602	rs761143078	2.945e-05	2.941e-05	1.226e-05	4.68e-05	0.0005	2.219e-05	1.972e-05	0.0004	0.0003	0	0	0	0	0	0	8.995e-07	0	0.0005	6.568e-06	6.566e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.564	0.08408	T	0.857	0.04129	T	0.002	0.09854	B	0.004	0.10090	B	0.009794	0.30200	N	0.356348	0.76545	0.29494	N	0.665	0.16292	N	2.52	0.79854	T	-0.74	0.22078	N	0.203	0.22486	-0.9764	0.35816	T	0.014	0.05753	T	10	0.0494605	0.04537	T	0.010531	0.27174	T	0.056	0.15993	0.487	0.57098	0.187035705434	0.18338	0.25857836984167687	0.25771	0.326945427741	0.34833	0.554125010967	0.46438	T	0.00914	0.08339	T	-0.324101	0.06568	T	-0.387169	0.34883	T	0.070975060336334	0.08786	T	0.625137	0.24143	T	0.028333208	0.02154	0.03997181	0.04213	0.028333208	0.02154	0.03997181	0.04213	-6.023	0.46472	T	.	.	0.069	0.10497	B	.;.	.;.	1.588128	0.20318	14.69	0.86876283729780446	0.16833	0.83316	0.42443	D	AEFDGBI	0.117495	0.23015	N	-0.479525966216945	0.22752	1.217126	-0.246269241647798	0.29900	1.678967	0.92999458379777	0.26990	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.07	3.74	0.42108	2.731000	0.47015	2.790000	0.34790	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.7212:0.1437:0.1352:0.0	6.278	0.20202	216	0.91608	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	996.98	45	chr14	102452520	.	A	G	996.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.402e+00;DP=886;ExcessHet=0.0000;FS=1.828;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.01;ReadPosRankSum=9.000e-03;SOR=0.506	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr14	102929467	102929467	G	A	exonic	AMN	.	nonsynonymous SNV	AMN:NM_030943:exon7:c.G691A:p.G231S,	Megaloblastic anemia-1, Norwegian type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.985	D	0.013	U	0.990	D	2.045	M	-2.48	D	0.616	D	0.762	D	0.252	3.560	18.15	3.29	1.396	2.253	11.328	0.508	0.984963048864	.	.	0.0007	0	0	0	.	0	0	0.0009	5.82e-05	9	154602	rs746199829	2.973e-05	3.01e-05	8.585e-06	5.146e-05	0.0005	2.212e-05	1.991e-05	0.0004	0.0003	0	0	0	0	0	0	0	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.48186	D	0.135	0.34124	T	1.0	0.90584	D	0.985	0.76457	D	0.012936	0.29007	U	0.230972	0.989754	0.41016	D	2.215	0.62545	M	-2.48	0.89071	D	-2.91	0.60982	D	0.217	0.24260	0.616	0.92108	D	0.762	0.91883	D	10	0.4228022	0.56976	T	0.984963	0.99929	D	0.508	0.78848	0.471	0.54537	0.757159701822	0.75495	0.804309703073637	0.80384	1.28303737647	0.82587	0.751734137535	0.74702	T	0.577724	0.86123	D	-0.213818	0.18846	T	-0.19774	0.54861	T	0.518886804580688	0.33325	D	0.644935	0.25655	T	0.39655176	0.60493	0.35055825	0.60663	0.39655176	0.60493	0.35055825	0.60663	-4.21	0.26896	T	.	.	0.129	0.27702	B	.	.	4.484191	0.69992	25.5	0.9973237894492214	0.82833	0.51747	0.28968	D	AEFDBCI	0.144416	0.26737	N	0.286562327530246	0.55466	3.710727	0.157561531955383	0.47544	2.983052	0.999999970970743	0.74766	0.582742	0.33608	0	0.541168	0.11318	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.29	3.29	0.36801	3.823000	0.55415	5.686000	0.49316	0.519000	0.23678	0.995000	0.38783	1.000000	0.68203	0.484000	0.28656	0.0:0.0:1.0:0.0	11.328	0.48697	499	0.76092	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	522.98	40	chr14	102929467	.	G	A	522.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.622;DP=797;ExcessHet=0.0000;FS=2.416;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.25;ReadPosRankSum=1.91;SOR=1.179	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,115,1384	20	0	1	0
chr14	102929723	102929723	A	G	exonic	AMN	.	nonsynonymous SNV	AMN:NM_030943:exon8:c.A829G:p.T277A,	Megaloblastic anemia-1, Norwegian type, Autosomal recessive	.	1	1508	12	1	0	14	0.00462046	.	.	463536	not_provided|Imerslund-Grasbeck_syndrome_type_2|Imerslund-Grasbeck_syndrome	MedGen:C3661900|MONDO:MONDO:0100157,MedGen:C4016948,OMIM:618882|MONDO:MONDO:0009853,MedGen:C4551825,OMIM:PS261100,Orphanet:35858	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.9	T	0.0	B	0.001	B	0.874	N	1.000	N	-0.805	N	-2.31	D	-0.836	T	0.145	T	0.049	-0.376	2.232	-4.48	-1.388	-0.712	0.378	0.172	.	0.0039	0.00419329	0.0073	0.0017	0.0053	0	0	0.0064	0	0.0101	0.0023027	356	154602	rs146499374	0.0065	0.0063	0.0064	0.0066	0.0090	0.0064	0.0063	0.0084	0.0082	0.0010	0.0042	0.0006	2.791e-05	0.0013	0.0083	0.0071	0.0061	0.0090	0.0046	0.0046	0.0050	0.0041	0.0122	0.0043	0.0042	0.0097	0.0088	0.0014	0	0.0051	0.0006	0.0002	0.0009	0.0068	0.0070	0.0057	0.0122	0.643	0.04957	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.873612	0.08807	N	0.938751	1	0.08975	N	-0.345	0.03330	N	-2.31	0.87750	D	-1.22	0.30964	N	0.052	0.02366	-0.8357	0.52930	T	0.145	0.46859	T	10	0.005910963	0.00132	T	.	.	.	0.172	0.43662	.	.	0.51372946856	0.51013	0.5116510112497509	0.51087	0.499344733877	0.48381	0.630509853363	0.57217	T	0.20673	0.56616	T	-0.5652	0.00236	T	-0.576686	0.14842	T	0.00274068564030419	0.00029	T	0.314569	0.06202	T	0.10823081	0.25591	0.059538513	0.11192	0.14896157	0.33982	0.058929633	0.10973	-1.422	0.01612	T	0.1713030324696439	0.21586	0.064	0.01622	B	.	.	-0.379896	0.02290	0.240	0.54873868305836648	0.05225	0.00491	0.02326	N	AEFDBCI	0.033131	0.03873	N	-1.66297529157831	0.00982	0.0425456	-1.69061325194044	0.01179	0.05307433	0.99988050737161	0.44867	0.582742	0.33608	0	0.541168	0.11318	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	3.07	-4.48	0.03267	-1.920000	0.01662	-0.277000	0.10300	0.543000	0.25316	0.000000	0.06391	0.000000	0.08366	0.127000	0.19450	0.4213:0.2089:0.1811:0.1887	0.378	0.00364	502	0.75873	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	309.98	40	chr14	102929723	.	A	G	309.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.706;DP=786;ExcessHet=0.0000;FS=1.218;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.21;ReadPosRankSum=2.00;SOR=0.941	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,115,1384	20	0	1	0
chr14	103108478	103108478	G	A	exonic	EXOC3L4	.	nonsynonymous SNV	EXOC3L4:NM_001077594:exon10:c.G1937A:p.R646Q,	.	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.91	P	0.182	B	0.651	N	1.000	N	1.95	M	3.29	T	-0.987	T	0.011	T	0.22	1.282	10.19	-0.028	0.067	0.235	6.169	0.069	0.0239430674218	0.0027	0.00139776	0.0035	0.0006	0.0015	0.0001	0.0067	0.0047	0.0011	0.0027	0.0034023	526	154602	rs148718670	0.0031	0.0031	0.0030	0.0033	0.0042	0.0031	0.0030	0.0032	0.0031	0.0004	0.0016	0.0051	5.038e-05	0.0066	0.0042	0.0032	0.0032	0.0023	0.0035	0.0035	0.0036	0.0034	0.0049	0.0032	0.0032	0.0045	0.0043	0.0005	0.0570	0.0011	0.0052	0.0002	0.0070	0	0.0049	0.0033	0.0017	0.334	0.12961	T	0.034	0.52727	D	0.91	0.50240	P	0.182	0.35926	B	0.650602	0.10516	N	0.816109	1	0.08975	N	2.2	0.62015	M	3.29	0.06445	T	-1.07	0.27876	N	0.231	0.25989	-0.9865	0.33469	T	0.011	0.04227	T	10	0.0076559484	0.00174	T	0.023943	0.46920	T	0.069	0.20116	.	.	0.115124310173	0.11017	0.2663063714197273	0.26543	0.0382972999509	0.04077	0.278146058321	0.07235	T	0.001435	0.00891	T	-0.601614	0.00143	T	-0.633785	0.10130	T	0.00635878509147724	0.00071	T	0.750125	0.37153	T	0.059664056	0.12152	0.059761144	0.11269	0.059664056	0.12152	0.059761144	0.11269	-4.488	0.30731	T	.	.	0.088	0.11510	B	.	.	1.761469	0.22403	15.61	0.98874673944757863	0.47702	0.04259	0.09790	N	AEFDBHCI	0.083957	0.17012	N	-0.472227064416708	0.22995	1.231677	-0.633017471132988	0.18647	0.9970609	0.999999999993434	0.74766	0.608966	0.35542	0	0.468601	0.06657	0	0.769059	0.98459	0	0.562822	0.20929	0	.	.	4.14	-0.0279	0.13251	-0.687000	0.05257	0.027000	0.13676	0.662000	0.56354	0.000000	0.06391	0.000000	0.08366	0.191000	0.21631	0.4805:0.0:0.5195:0.0	6.169	0.19621	643	0.63827	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3406.11	34	chr14	103108478	.	G	A	3406.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.96;DP=987;ExcessHet=0.1072;FS=2.655;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=-4.470e-01;SOR=0.715	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	19	0	2	0
chr14	103110131	103110131	G	A	exonic	EXOC3L4	.	nonsynonymous SNV	EXOC3L4:NM_001077594:exon11:c.G2077A:p.G693R,	.	.	416	1104	2	0	0	2	0.000904977	.	.	2340521	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	0.005	B	0.005	B	0.841	N	1.000	N	0.69	N	3.45	T	-0.940	T	0.012	T	0.312	0.099	4.536	-0.478	-0.088	-1.277	4.173	0.023	0.00529602056587	.	0.000399361	0.0004	0.0012	0	0	0	0.0003	0	0.0005	0.0001294	20	154602	rs544292874	0.0002	0.0002	0.0002	0.0002	0.0018	0.0001	0.0001	0.0010	0.0007	0.0007	0.0002	0	5.447e-05	2.097e-05	0.0018	0.0001	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0003	0.0006	0	6.532e-05	0	0	9.406e-05	0	0.0002	0.0005	0.0004	0.383	0.11085	T	0.604	0.07842	T	0.005	0.12996	B	0.005	0.11217	B	0.840829	0.09035	N	0.903783	1	0.08975	N	-0.41	0.02942	N	3.45	0.05311	T	-0.89	0.24026	N	0.076	0.05037	-0.9400	0.42616	T	0.012	0.04510	T	10	0.008559555	0.00194	T	0.005296	0.13525	T	0.023	0.04649	0.53	0.63707	0.0611884634855	0.05136	0.2001019717559939	0.19927	0.0353503300704	0.03728	0.414136588573	0.27029	T	0.002777	0.02166	T	-0.563002	0.00244	T	-0.665762	0.07882	T	0.00360662278897573	0.00038	T	0.505949	0.15996	T	0.060816284	0.12522	0.050978005	0.08110	0.060816284	0.12522	0.050978005	0.08110	-2.844	0.08595	T	.	.	0.098	0.16054	B	.	.	-0.571347	0.01651	0.116	0.7365911126912903	0.10408	0.00066	0.00474	N	AEFDGBHCI	0.069032	0.13647	N	-1.27447470101904	0.03985	0.1790637	-1.33442070178402	0.03993	0.187417	0.999999999999899	0.74766	0.615755	0.39536	0	0.232529	0.04832	2	0.587068	0.30358	0	0.526803	0.08958	0	.	.	3.35	-0.478	0.11490	-2.553000	0.01002	-2.075000	0.04251	-1.588000	0.00909	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3297:0.3701:0.3002:0.0	4.173	0.09800	643	0.63827	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	934.98	42	chr14	103110131	.	G	A	934.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.10;DP=1349;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=0.312;SOR=0.703	GT:AD:DP:GQ:PL	0/0:76,0:76:99:0,120,1800	20	0	1	0
chr14	103405082	103405082	T	G	exonic	MARK3	.	nonsynonymous SNV	MARK3:NM_001128918:exon2:c.T58G:p.S20A	.	.	437	1083	2	0	0	2	0.000922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.321	B	0.209	B	0.000	D	1.000	D	1.735	L	-0.31	T	-0.598	T	0.299	T	0.287	2.889	15.63	5.23	1.968	5.071	15.118	0.102	0.0500215451545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.362e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.564	0.43085	T	0.12	0.36365	T	0.321	0.33029	B	0.209	0.37260	B	0.000036	0.55875	D	0.126462	1	0.81001	D	2.365	0.68172	M	-0.31	0.73311	T	-1.48	0.41239	N	0.564	0.60495	-0.5983	0.64887	T	0.299	0.67073	T	10	0.25259498	0.42616	T	0.050022	0.64065	D	0.102	0.29158	0.225	0.14960	0.819318611731	0.81761	0.32504801340020806	0.32417	0.283439501018	0.30787	0.78269547224	0.79335	T	0.397463	0.75582	T	-0.0102863	0.50225	T	-0.252552	0.49564	T	0.93624484539032	0.60509	D	0.737926	0.54290	T	0.168658	0.37337	0.18701324	0.41909	0.168658	0.37336	0.18701324	0.41908	-4.088	0.25467	T	.	.	0.078	0.14979	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.674124	0.52266	23.2	0.99126309048269567	0.53142	0.97512	0.75231	D	AEFDBHCIJ	0.613243	0.60101	D	0.0382674570738904	0.43605	2.650072	0.186480196588407	0.49107	3.117824	0.999999997251129	0.74766	0.780599	0.99702	0	0.724815	0.89359	0	0.709663	0.75317	0	0.600164	0.37192	1	.	.	5.23	5.23	0.72570	6.187000	0.71962	7.695000	0.65987	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	15.118	0.72094	612	0.66786	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3180.98	38	chr14	103405082	.	T	G	3180.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=948;ExcessHet=0.0000;FS=0.997;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=0.041;SOR=0.781	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1202	20	0	1	0
chr14	103679432	103679432	C	T	exonic	KLC1	.	nonsynonymous SNV	KLC1:NM_001130107:exon13:c.C1537T:p.P513S	.	.	.	.	.	.	.	.	.	.	.	3265455	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.47	T	0.997	D	0.986	D	0.000	D	1.000	D	0.09	N	-0.26	T	0.061	D	0.587	D	0.696	2.638	14.78	5.03	1.454	2.021	16.817	0.078	0.0567546265188	7.7e-05	.	4.947e-05	0	8.646e-05	0	0	0	0.0011	0.0002	3.88e-05	6	154602	rs373867965	3.762e-05	3.762e-05	3.403e-05	4.125e-05	0.0009	2.959e-05	2.655e-05	0.0003	0.0002	0	0	0	2.519e-05	0	0.0009	2.248e-05	0.0001	0.0002	1.973e-05	1.97e-05	3.856e-05	0	0.0002	5.24e-06	2.46e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.751	0.06935	T	0.753	0.05958	T	0.997	0.70673	D	0.986	0.76916	D	0.000002	0.62929	D	0.102692	0.999969	0.52935	D	1.395	0.35261	L	-1.01	0.86415	T	0.05	0.09460	N	0.651	0.68082	0.061	0.83455	D	0.587	0.85197	D	10	0.08030257	0.13019	T	0.056755	0.66719	D	0.305	0.62620	.	.	0.813289413075	0.81153	0.773326610681536	0.77282	0.381154881864	0.39479	0.412983864546	0.26870	T	0.110603	0.42543	T	-0.0450011	0.45204	T	-0.0102686	0.69667	D	0.0673938021063805	0.08280	T	0.914509	0.82682	D	0.12787254	0.29911	0.16168977	0.37596	0.12787254	0.29911	0.16168977	0.37595	-4.251	0.30082	T	.	.	0.084	0.12797	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.752714	0.36087	20.2	0.98593738135813891	0.43414	0.57169	0.30306	D	ALL	0.529308	0.55047	D	-0.235332966571469	0.31693	1.779692	-0.0257776918807201	0.38554	2.273134	0.999999999999861	0.74766	0.675202	0.55065	0	0.67197	0.64623	0	0.702456	0.68683	0	0.636	0.56748	0	.	.	5.94	5.03	0.67015	2.076000	0.41172	3.947000	0.40646	0.599000	0.40250	0.943000	0.32764	1.000000	0.68203	0.997000	0.79791	0.0:0.8713:0.1287:0.0	16.817	0.85599	878	0.29785	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1150.98	39	chr14	103679432	.	C	T	1150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=890;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=-1.740e-01;SOR=0.648	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1215	20	0	1	0
chr14	103754193	103754193	T	C	exonic	PPP1R13B	.	nonsynonymous SNV	PPP1R13B:NM_015316:exon6:c.A508G:p.I170V,	.	.	433	1069	20	0	0	20	0.00926784	.	.	714016	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.134	N	1.000	D	-1.445	N	1.63	T	-0.974	T	0.007	T	0.078	1.133	9.616	-7.9	-1.141	-0.858	10.478	0.074	.	0.0055	0.00678914	0.0050	0.0075	0.0065	0.0006	0.0002	0.0045	0.0067	0.0085	0.0048706	753	154602	rs140395624	0.0039	0.0039	0.0038	0.0040	0.0199	0.0038	0.0038	0.0170	0.0159	0.0079	0.0073	0.0083	0.0002	0.0004	0.0199	0.0032	0.0067	0.0082	0.0044	0.0044	0.0045	0.0044	0.0083	0.0041	0.0040	0.0063	0.0055	0.0063	0	0.0061	0.0089	0.0002	9.439e-05	0.0136	0.0032	0.0128	0.0083	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.133797	0.18538	N	0.591766	0.999954	0.19072	N	-1.245	0.00777	N	1.63	0.28002	T	0.42	0.03352	N	0.136	0.13341	-0.9740	0.36344	T	0.007	0.02399	T	10	0.002279222	0.00033	T	.	.	.	0.074	0.21613	.	.	0.193917141947	0.19028	0.053803183769524886	0.05322	0.313330889127	0.33626	0.321245968342	0.13610	T	0.077834	0.35750	T	-0.670969	0.00054	T	-0.73159	0.04256	T	0.00181427574698147	0.00018	T	0.770523	0.40040	T	0.023720741	0.01137	0.043258455	0.05342	0.023720741	0.01136	0.043258455	0.05342	-2.743	0.07671	T	.	.	0.054	0.00487	B	.;.	.;.	-1.387752	0.00369	0.007	0.6331488886692882	0.07191	0.06740	0.12762	N	AEFBI	0.065346	0.12741	N	-1.51365636546447	0.01759	0.07705352	-1.44292608912939	0.02835	0.1311378	0.815387870864254	0.24429	0.722319	0.85440	0	0.633656	0.55848	0	0.601832	0.32385	0	0.735409	0.98432	0	.	.	5.65	-7.9	0.01035	-0.854000	0.04407	-12.103000	0.00550	0.661000	0.55757	0.000000	0.06391	0.000000	0.08366	0.999000	0.91618	0.0:0.4082:0.4313:0.1605	10.478	0.43862	794	0.45591	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	872.98	42	chr14	103754193	.	T	C	872.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=783;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=0.139;SOR=0.795	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1465	20	0	1	0
chr14	103915144	103915144	A	G	exonic	ATP5MPL	.	nonsynonymous SNV	ATP5MPL:NM_004894:exon2:c.T46C:p.Y16H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.006	N	0.780	D	.	.	0.18	T	0.035	D	0.378	T	0.758	2.746	15.14	5.4	2.033	4.451	11.811	0.411	0.173064998967	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1447179383	2.737e-06	2.736e-06	1.361e-06	4.126e-06	4.472e-05	6.4e-07	4.3e-07	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.003	0.92824	D	0.999	0.77913	D	0.997	0.86255	D	0.005505	0.32736	N	0.140719	0.613033	0.34257	D	.	.	.	0.18	0.60361	T	-4.09	0.74821	D	0.707	0.77039	0.035	0.82952	D	0.378	0.73564	T	9	0.8936007	0.88708	D	0.173065	0.84986	D	0.411	0.72252	0.741	0.87317	0.647862070789	0.64494	0.2760981139934835	0.27522	1.30530319398	0.83111	.	.	.	0.320737	0.69190	T	0.102113	0.64520	D	-0.00823248	0.69799	D	0.936492303817754	0.60554	D	0.705929	0.32863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.724	0.77702	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.082140	0.60735	24.3	0.99763718229683851	0.85254	0.92585	0.56058	D	AEFBI	0.585340	0.58380	D	0.491678501613403	0.66601	4.971467	0.441472656403274	0.64172	4.666257	0.9999959230358	0.74766	0.744818	0.98587	0	0.732433	0.95613	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.4	5.4	0.77957	4.390000	0.59409	10.899000	0.84130	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.315000	0.24854	1.0:0.0:0.0:0.0	11.811	0.51456	451	0.79296	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	611.98	36	chr14	103915144	.	A	G	611.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=765;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.00;ReadPosRankSum=0.555;SOR=0.693	GT:AD:DP:GQ:PL	0/1:40,28:68:99:626,0,915	20	0	1	0
chr14	103920956	103920956	G	C	exonic	ATP5MPL	.	nonsynonymous SNV	ATP5MPL:NM_001127393:exon2:c.C35G:p.S12C,	.	.	427	1087	8	0	0	8	0.00366636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	.	.	0.7	T	-0.950	T	0.106	T	0.062	0.999	9.078	-1.06	-0.309	-0.012	2.742	0.011	0.00237381004347	.	0.000199681	0.0018	0	0	0	0	0.0009	0.0053	0.0034	0.0002587	40	154602	rs199621733	0.0005	0.0005	0.0003	0.0006	0.0041	0.0004	0.0004	0.0037	0.0036	9.495e-05	8.402e-05	0.0025	5.597e-05	0	0.0040	0.0002	0.0007	0.0041	0.0004	0.0004	0.0003	0.0004	0.0043	0.0003	0.0003	0.0029	0.0024	7.216e-05	0	0.0001	0.0029	0	0	0	0.0002	0.0005	0.0043	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.7	0.51474	T	0.51	0.02898	N	0.179	0.19325	-0.9502	0.40938	T	0.106	0.38611	T	6	0.003975183	0.00077	T	0.002374	0.04618	T	0.011	0.01250	0.225	0.14960	0.082315109003	0.07666	0.014362762043162112	0.01393	1.01298021162	0.74837	.	.	.	.	.	.	-0.616415	0.00116	T	-0.658359	0.08378	T	0.0175485569360276	0.00489	T	0.394361	0.09853	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11172	B	.	.	0.266842	0.06449	2.921	0.8617430934275504	0.16361	0.07274	0.13297	N	AEFDGBHCI	0.052851	0.09471	N	-0.820395568768857	0.12789	0.6257097	-1.04695621047659	0.08770	0.4328535	0.999998999646604	0.74766	0.493124	0.18060	0	0.484254	0.07192	0	0.694767	0.63188	0	0.627883	0.49187	0	.	.	2.01	-1.06	0.09491	-0.298000	0.08302	-0.331000	0.09890	-0.266000	0.06809	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.336:0.2536:0.4104:0.0	2.742	0.04933	447	0.79583	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1985.98	171	chr14	103920956	.	G	C	1985.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.334;DP=891;ExcessHet=0.0000;FS=1.888;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.61;ReadPosRankSum=-3.121e+00;SOR=0.595	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1236	20	0	1	0
chr14	103975449	103975449	G	C	exonic	TDRD9	.	nonsynonymous SNV	TDRD9:NM_153046:exon7:c.G907C:p.V303L,	.	.	434	1084	4	0	0	4	0.00184162	.	.	3214000	TDRD9-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.27	T	0.953	P	0.672	P	0.066	N	0.967	D	0.895	L	3.9	T	-0.832	T	0.014	T	0.244	2.158	13.17	3.33	1.183	0.740	10.292	0.016	.	0.0008	0.00119808	0.0016	9.752e-05	0.0003	0	0.0120	0.0014	0.0022	0.0006	0.0014489	224	154602	rs147103471	0.0017	0.0017	0.0018	0.0017	0.0015	0.0017	0.0017	0.0015	0.0014	0.0004	0.0004	3.827e-05	0	0.0121	0.0014	0.0015	0.0017	0.0007	0.0021	0.0021	0.0015	0.0028	0.0014	0.0019	0.0018	0.0012	0.0011	0.0003	0	0.0007	0	0	0.0180	0	0.0014	0.0019	0.0012	0.024	0.47745	D	0.155	0.31936	T	0.073	0.24078	B	0.028	0.21332	B	0.066165	0.21829	N	0.376575	0.967095	0.38572	D	1.935	0.51832	L	3.89	0.03544	T	-1.53	0.37178	N	0.216	0.24135	-0.8317	0.53191	T	0.014	0.05753	T	10	0.0051170588	0.00111	T	.	.	.	0.023	0.04649	.	.	0.170165803431	0.16609	0.42724342476483135	0.42641	0.208088668149	0.23278	0.440129667521	0.30595	T	0.040974	0.25705	T	-0.544513	0.00315	T	-0.579559	0.14584	T	0.0193841248249143	0.00643	T	0.808619	0.45852	T	0.08166041	0.18774	0.09528713	0.22592	0.07936636	0.18127	0.096928425	0.23049	-5.887	0.45324	T	.	.	0.156	0.34602	B	.;.	.;.	1.875979	0.23830	16.17	0.98940409021674436	0.48921	0.58818	0.30745	D	AEFDI	0.318443	0.42214	N	-0.440942208071658	0.24048	1.295763	-0.413525267455948	0.24600	1.347979	0.0966612576169368	0.16259	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.16	3.33	0.37245	0.809000	0.26827	4.417000	0.43302	-0.106000	0.15538	0.342000	0.25692	1.000000	0.68203	0.341000	0.25455	0.2171:0.0:0.7829:0.0	10.292	0.42780	465	0.78421	Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1145.98	34	chr14	103975449	.	G	C	1145.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.189;DP=804;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.91;ReadPosRankSum=0.841;SOR=0.713	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1246	20	0	1	0
chr14	103986308	103986308	T	C	exonic	TDRD9	.	nonsynonymous SNV	TDRD9:NM_153046:exon8:c.T1103C:p.M368T,	.	.	437	1084	1	0	0	1	0.000461042	.	.	3204898	TDRD9-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.58	T	0.037	B	0.029	B	0.001	D	1.000	N	2.08	M	4.12	T	-0.963	T	0.013	T	0.313	0.710	7.783	5.71	2.176	2.023	13.510	0.094	.	.	0.00499201	0.0024	0	0	0	0	0	0.0023	0.0174	0.0019534	302	154602	rs540412831	0.0009	0.0009	0.0006	0.0012	0.0141	0.0008	0.0008	0.0135	0.0132	2.997e-05	0	0	0	0	0.0009	8.117e-06	0.0011	0.0141	0.0006	0.0006	0.0003	0.0009	0.0174	0.0005	0.0004	0.0144	0.0133	0	0	0	0	0.0002	0	0	1.47e-05	0.0009	0.0174	0.277	0.15665	T	0.611	0.18959	T	0.003	0.11197	B	0.005	0.11217	B	0.000992	0.40743	D	0.210807	1	0.08975	N	2.35	0.67516	M	4.12	0.02891	T	-1.25	0.31576	N	0.334	0.43223	-0.9627	0.38664	T	0.013	0.05177	T	10	0.0028936863	0.00046	T	.	.	.	0.094	0.27141	0.405	0.43738	0.148003135375	0.14442	0.4723827549962484	0.47157	0.243209586252	0.26821	0.329681873322	0.14886	T	0.031269	0.21965	T	-0.539299	0.00338	T	-0.534469	0.18844	T	0.0456625045405231	0.04722	T	0.524548	0.18126	T	0.16634019	0.36962	0.1970885	0.43472	0.16793633	0.37220	0.16654012	0.38467	-8.165	0.62189	D	.	.	0.102	0.18037	B	.;.	.;.	2.036425	0.25887	16.92	0.91266673344229321	0.20525	0.64756	0.32511	D	AEFBI	0.125999	0.24275	N	-0.159749344301976	0.34822	1.992503	-0.0182642061534148	0.38890	2.297809	0.0129128931596728	0.12392	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.71	5.71	0.89031	2.161000	0.41985	2.696000	0.34125	0.665000	0.62972	0.618000	0.27897	0.999000	0.35428	0.976000	0.56436	0.0:0.0:0.0:1.0	13.510	0.60964	515	0.74782	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1677.98	38	chr14	103986308	.	T	C	1677.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.490e-01;DP=889;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.13;ReadPosRankSum=-1.430e-01;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,105,1575	20	0	1	0
chr14	104022207	104022207	C	T	exonic	TDRD9	.	nonsynonymous SNV	TDRD9:NM_153046:exon24:c.C2483T:p.P828L,	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.976	D	0.002	N	1.000	D	1.905	M	3.97	T	-1.227	T	0.042	T	0.703	3.467	17.75	5.6	2.641	3.774	19.607	0.231	0.026109724448	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1007154296	1.537e-05	1.505e-05	1.937e-05	1.128e-05	0.0002	1.006e-05	8.59e-06	4.966e-05	3.204e-05	0	0.0001	0	0	0	0.0002	9.118e-06	6.723e-05	2.444e-05	7.884e-05	7.88e-05	7.707e-05	8.07e-05	0.0007	4.496e-05	3.512e-05	0.0004	0.0003	0	0	0.0007	0	0	0	0	2.94e-05	0	0	0.004	0.65419	D	0.102	0.48594	T	0.604	0.39417	P	0.132	0.33005	B	0.002045	0.37364	N	0.185500	1	0.81001	D	2.35	0.67516	M	3.94	0.03408	T	-5.42	0.85247	D	0.405	0.44570	-1.2269	0.00036	T	0.042	0.18118	T	10	0.3206932	0.49441	T	0.02611	0.49041	D	0.231	0.53208	0.544	0.65731	0.312001716656	0.30816	0.7128802110317388	0.71230	0.795491362318	0.66019	0.682111263275	0.64572	T	0.332172	0.70216	T	-0.0890354	0.38237	T	-0.250715	0.49746	T	0.94208037853241	0.61592	D	0.907909	0.67446	D	0.22921678	0.45655	0.3269594	0.58598	0.22921678	0.45655	0.3269594	0.58597	-9.713	0.72176	D	.	.	0.154	0.34026	B	.;.	.;.	3.405606	0.47215	22.4	0.99702805858571641	0.80729	0.91882	0.54467	D	AEFI	0.521212	0.54574	D	0.434170224311898	0.63310	4.562433	0.447170447543229	0.64534	4.710912	0.999999218696348	0.74766	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.6	5.6	0.84997	3.858000	0.55690	5.893000	0.50786	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	19.607	0.95580	542	0.72843	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	660.98	65	chr14	104022207	.	C	T	660.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=739;ExcessHet=0.0000;FS=0.951;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.17;ReadPosRankSum=0.716;SOR=0.852	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1028	20	0	1	0
chr14	104026784	104026784	G	A	exonic	TDRD9	.	nonsynonymous SNV	TDRD9:NM_153046:exon28:c.G3127A:p.G1043S,	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.451	B	0.061	B	0.000	D	1.000	D	1.485	L	3.92	T	-0.859	T	0.210	T	0.308	0.861	8.487	3.59	0.648	2.848	11.826	0.059	0.0161544196768	7.7e-05	0.000199681	2.471e-05	0	0	0	0	1.498e-05	0	0.0001	2.59e-05	4	154602	rs200584602	3.147e-05	3.147e-05	1.497e-05	4.813e-05	0.0003	2.412e-05	2.158e-05	0.0002	0.0002	2.987e-05	4.472e-05	0	0	0	0	1.169e-05	9.938e-05	0.0003	3.284e-05	3.281e-05	1.285e-05	5.373e-05	0.0004	1.26e-05	7.98e-06	7.312e-05	3.037e-05	2.408e-05	0	0	0	0.0004	0	0	0	0	0.0004	0.097	0.30943	T	0.345	0.17750	T	0.011	0.15914	B	0.004	0.10090	B	0.000411	0.44736	D	0.096704	0.999997	0.58761	D	2.39	0.68882	M	3.9	0.03516	T	-2.13	0.48354	N	0.352	0.39356	-0.8589	0.51341	T	0.210	0.56987	T	10	0.08192012	0.13464	T	0.016154	0.37263	T	0.074	0.21613	.	.	0.159798565429	0.15598	0.47441972510095753	0.47360	0.210751915057	0.23571	0.301711678505	0.10655	T	0.107542	0.41984	T	-0.40251	0.02229	T	-0.511407	0.21170	T	0.113655537366867	0.13798	T	0.724428	0.33821	T	0.051778693	0.09559	0.12636548	0.30434	0.0535053	0.10134	0.118644625	0.28637	-7.205	0.55517	T	.	.	0.097	0.18080	B	.;.	.;.	2.035927	0.25880	16.92	0.79523662272665396	0.12780	0.93582	0.58611	D	AEFGBI	0.346370	0.44121	N	-0.385992638939906	0.25967	1.413648	-0.427490360785832	0.24194	1.323534	0.983459653883287	0.30561	0.549168	0.22868	0	0.59043	0.45803	0	0.657636	0.52715	0	0.616125	0.45549	0	.	.	5.4	3.59	0.40253	2.933000	0.48641	4.972000	0.46406	-0.119000	0.14319	0.999000	0.42656	1.000000	0.68203	0.651000	0.32720	0.1425:0.0:0.8575:0.0	11.826	0.51541	528	0.73785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2412.98	33	chr14	104026784	.	G	A	2412.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=874;ExcessHet=0.0000;FS=2.627;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.79;ReadPosRankSum=0.084;SOR=0.808	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1235	20	0	1	0
chr14	104175415	104175415	G	A	exonic	KIF26A	.	nonsynonymous SNV	KIF26A:NM_015656:exon12:c.G2627A:p.R876Q,	.	.	417	1090	15	0	0	15	0.00683371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.27	B	0.01	B	.	.	1.000	N	1.155	L	-1.19	T	-0.862	T	0.190	T	0.164	2.540	14.45	1.99	0.761	0.905	5.902	0.086	.	0.0018	0.00199681	0.0036	0.0004	0.0016	0	0.0116	0.0041	0.0054	0.0040	0.0024644	381	154602	rs138557973	0.0025	0.0025	0.0024	0.0025	0.0039	0.0024	0.0024	0.0035	0.0034	0.0003	0.0012	0.0071	0.0002	0.0101	0.0037	0.0022	0.0022	0.0039	0.0026	0.0026	0.0021	0.0031	0.0027	0.0024	0.0023	0.0021	0.0020	0.0004	0	0.0024	0.0075	0.0002	0.0118	0	0.0024	0.0038	0.0027	0.076	0.34269	T	0.317	0.19304	T	0.27	0.31762	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	2.015	0.55033	M	-1.2	0.78537	T	-1.23	0.31170	N	0.162	0.17691	-0.8617	0.51140	T	0.190	0.54108	T	9	0.007402867	0.00168	T	.	.	.	0.086	0.25016	.	.	0.900429547486	0.89943	0.1674360589524765	0.16663	0.160506886799	0.18112	0.576956987381	0.49656	T	0.010119	0.09163	T	-0.395158	0.02490	T	-0.342183	0.40098	T	0.0111673446678968	0.00163	T	0.818018	0.47523	T	0.10000399	0.23607	0.070173934	0.14876	0.10000399	0.23606	0.070173934	0.14876	-4.423	0.29867	T	.	.	0.089	0.12181	B	.;.	.;.	2.399434	0.30823	18.56	0.9950725035089415	0.68381	0.10959	0.16311	N	AEFBI	0.052566	0.09393	N	-0.585910117310267	0.19372	1.013331	-0.608509071694544	0.19275	1.033391	0.831840926990104	0.24707	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.9	1.99	0.25423	1.014000	0.29553	3.128000	0.36429	0.672000	0.70159	0.529000	0.27181	1.000000	0.68203	0.006000	0.07323	0.3946:0.0:0.6054:0.0	5.902	0.18217	557	0.71576	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2175.98	102	chr14	104175415	.	G	A	2175.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=1547;ExcessHet=0.0000;FS=2.904;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.51;ReadPosRankSum=0.447;SOR=0.809	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1800	20	0	1	0
chr14	104177602	104177602	C	T	exonic	KIF26A	.	nonsynonymous SNV	KIF26A:NM_015656:exon12:c.C4814T:p.T1605M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.05	B	0.023	B	.	.	1.000	N	0.895	L	-1.17	T	-0.855	T	0.235	T	0.114	-0.057	3.721	0.074	0.441	-0.834	3.477	0.093	0.199693614028	.	.	.	.	.	.	.	.	.	.	.	.	.	rs777924224	2.54e-05	2.736e-05	3.007e-05	2.061e-05	9.651e-05	1.845e-05	1.632e-05	2.557e-05	1.308e-05	9.651e-05	0	0	0	0	0	2.232e-05	6.965e-05	5.117e-05	6.571e-06	6.567e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.082	0.33254	T	0.08	0.41913	T	0.05	0.22331	B	0.023	0.19966	B	.	.	.	.	1	0.08975	N	0.2	0.09183	N	-1.17	0.78199	T	-0.87	0.23590	N	0.125	0.11769	-0.8550	0.51620	T	0.235	0.60221	T	9	0.08713028	0.14878	T	0.199694	0.86666	D	0.093	0.26882	0.127	0.03251	0.645499774991	0.64256	0.18439822768989822	0.18358	0.0927056782991	0.10471	0.701386213303	0.67344	T	0.017005	0.13947	T	-0.416425	0.01803	T	-0.48877	0.23519	T	0.0059128408384889	0.00065	T	0.50155	0.15709	T	0.016586807	0.00207	0.027934983	0.00986	0.016586807	0.00207	0.027934983	0.00986	-5.777	0.44373	T	.	.	0.076	0.11220	B	.;.	.;.	-0.128789	0.03475	0.647	0.96337717397071754	0.29469	0.05846	0.11789	N	AEFDBCI	0.054813	0.09999	N	-1.01917792621031	0.08206	0.3839477	-1.09040204926608	0.07888	0.3855412	0.994203567424048	0.33533	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	3.5	0.074	0.13705	-0.211000	0.09336	-5.180000	0.01817	-0.358000	0.05522	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5116:0.2154:0.273	3.477	0.07152	561	0.71236	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1332.98	63	chr14	104177602	.	C	T	1332.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.604;DP=1589;ExcessHet=0.0000;FS=0.659;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.33;ReadPosRankSum=-2.950e-01;SOR=0.816	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	20	0	1	0
chr14	104179635	104179635	G	A	exonic	KIF26A	.	nonsynonymous SNV	KIF26A:NM_015656:exon15:c.G5494A:p.E1832K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.955	D	.	.	1.000	D	2.005	M	-1.45	T	0.397	D	0.636	D	0.488	4.819	27.3	4.56	2.087	7.397	17.337	0.463	0.656236721077	.	.	0.0002	0.0007	0	0	0	0.0002	0	0	1.29e-05	2	154602	rs756446886	6.337e-05	6.225e-05	5.96e-05	6.725e-05	0.0002	5.222e-05	4.87e-05	7.345e-05	5.14e-05	0	0	4.042e-05	0.0002	0	0.0002	6.889e-05	3.479e-05	5.123e-05	5.915e-05	5.91e-05	3.855e-05	8.073e-05	0.0002	3.078e-05	2.211e-05	5.285e-05	2.835e-05	4.826e-05	0	0.0002	0	0	0	0	5.881e-05	0	0	0.003	0.68238	D	0.013	0.63109	D	1.0	0.90584	D	0.955	0.69585	D	.	.	.	.	0.999999	0.58761	D	1.995	0.54099	M	-1.45	0.80899	T	-3.14	0.64019	D	0.618	0.63374	0.397	0.89049	D	0.636	0.87254	D	9	0.45253634	0.58788	T	0.656237	0.97102	D	0.463	0.75956	.	.	0.893892692631	0.89284	0.22985109683397584	0.22900	0.470077644791	0.46295	0.732959091663	0.71938	T	0.168398	0.51539	T	-0.107221	0.35228	T	-0.0698251	0.65639	T	0.306647865732913	0.25276	T	0.943106	0.78551	D	0.3442896	0.56618	0.35617682	0.61132	0.3442896	0.56618	0.35617682	0.61132	-3.592	0.17742	T	.	.	0.248	0.48303	B	.;.	.;.	4.694014	0.75243	26.3	0.99921971644385443	0.98787	0.95393	0.64544	D	AEFDBI	0.873736	0.79625	D	0.607030000606913	0.73620	5.995773	0.536945669727684	0.70497	5.513572	0.999999999965518	0.74766	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.56	4.56	0.55644	9.740000	0.98054	11.532000	0.93092	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.099000	0.18236	0.0:0.0:1.0:0.0	17.337	0.87172	565	0.70868	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	384.98	33	chr14	104179635	.	G	A	384.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.76;DP=766;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.55;ReadPosRankSum=0.020;SOR=0.793	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1160	20	0	1	0
chr14	104707532	104707537	CCCCAC	-	exonic	INF2	.	nonframeshift deletion	INF2:NM_001031714:exon8:c.1265_1270del:p.P427_P428del	Charcot-Marie-Tooth disease, dominant intermediate E, Autosomal dominant;Glomerulosclerosis, focal segmental, 5	.	83	1105	145	104	85	438	0.137729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	15742.8	47	chr14	104707525	.	ACCCCACCCCCAC	A,ACCCCAC	15742.8	.	AC=10,4;AF=0.238,0.095;AN=42;BaseQRankSum=0.324;DP=1468;ExcessHet=0.0509;FS=2.176;InbreedingCoeff=0.3577;MLEAC=10,4;MLEAF=0.238,0.095;MQ=60.00;MQRankSum=0.00;QD=30.55;ReadPosRankSum=1.57;SOR=0.392	GT:AD:DP:GQ:PL	0/0:62,0,0:62:78:0,78,1170,78,1170,1170	11	3	4	0
chr14	104753248	104753248	T	G	exonic	SIVA1	.	nonsynonymous SNV	SIVA1:NM_006427:exon1:c.T47G:p.L16R	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.001	D	0.993	N	2.28	M	.	.	-0.319	T	0.318	T	0.746	4.562	24.7	4.27	2.077	2.339	11.892	0.383	0.791480911579	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1444579808	2.077e-06	2.052e-06	1.376e-06	2.787e-06	0.0002	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.808e-06	0	0	6.577e-06	6.568e-06	1.286e-05	0	6.54e-05	0	0	.	.	0	0	6.54e-05	0	0	0	0	0	0	0	0.001	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000616	0.42945	D	0.161524	0.992912	0.41780	D	2.505	0.72935	M	.	.	.	-3.66	0.74661	D	0.538	0.56576	-0.3192	0.74444	T	0.318	0.68735	T	9	0.9286395	0.92207	D	0.791481	0.98363	D	0.383	0.70029	0.763	0.89133	0.569067374492	0.56572	0.630177630094756	0.62951	1.18850529845	0.80209	0.90074467659	0.96523	D	0.233863	0.60076	T	0.216029	0.75400	D	0.0725337	0.75079	D	0.988424003124237	0.78756	D	0.737326	0.35372	T	0.89360636	0.90819	0.78015566	0.87039	0.89360636	0.90820	0.78015566	0.87040	-2.117	0.03657	T	.	.	0.140	0.35056	B	.;.;.;.	.;.;.;.	3.611747	0.51069	23.0	0.99631406929545552	0.76081	0.49420	0.28429	N	AEFGBHCIJ	0.688558	0.64952	D	0.513723486525809	0.67901	5.14392	0.494634056566994	0.67634	5.110342	0.999999999999646	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.48	4.27	0.50009	1.789000	0.38356	4.723000	0.44515	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.482000	0.28611	0.0:0.0:0.1457:0.8543	11.892	0.51913	964	0.07719	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1010.98	38	chr14	104753248	.	T	G	1010.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.700e-01;DP=855;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.63;ReadPosRankSum=0.430;SOR=0.714	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr14	104886737	104886737	G	A	exonic	CEP170B	.	nonsynonymous SNV	CEP170B:NM_015005:exon11:c.G2288A:p.R763Q	.	.	415	1105	2	0	0	2	0.000904159	.	.	3296670	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.18	T	0.529	P	0.032	B	0.816	N	1.000	N	1.265	L	1.86	T	-1.028	T	0.038	T	0.041	0.618	7.325	-0.24	0.004	0.263	5.571	0.028	0.025208723885	0.0002	0.000399361	0.0007	0.0003	8.758e-05	0	0.0008	0.0007	0.0012	0.0016	0.0005692	88	154602	rs200431109	0.0006	0.0006	0.0006	0.0006	0.0015	0.0006	0.0005	0.0013	0.0012	0.0003	0.0002	0	0	0.0008	0.0002	0.0006	0.0004	0.0015	0.0004	0.0004	0.0005	0.0004	0.0006	0.0003	0.0003	0.0004	0.0003	0.0003	0	0.0003	0	0	0.0011	0	0.0005	0	0.0006	0.063	0.45393	T	0.3	0.24694	T	0.529	0.37682	P	0.032	0.22131	B	0.815892	0.06855	N	1.089080	1	0.08975	N	1.5	0.37844	L	1.86	0.24285	T	-1.75	0.41428	N	0.177	0.19055	-1.0279	0.21136	T	0.038	0.16419	T	10	0.016482383	0.00348	T	0.025209	0.48187	D	0.028	0.06331	.	.	0.138757226776	0.13463	0.4080324598705859	0.40719	0.226315904183	0.25184	0.440001904964	0.30577	T	0.021524	0.16743	T	-0.638431	0.00085	T	-0.730372	0.04311	T	0.00732170579154679	0.00084	T	0.693131	0.30283	T	.	.	.	.	.	.	.	.	-3.671	0.18891	T	.	.	0.073	0.05231	B	.;.;.	.;.;.	1.003193	0.13816	10.37	0.98434569306308251	0.41442	0.14216	0.18285	N	AEFDBI	0.062110	0.11917	N	-0.818104872728579	0.12848	0.6289607	-0.881375509242024	0.12535	0.6453795	0.213287040740641	0.18266	0.706548	0.73137	0	0.547309	0.14657	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.5	-0.24	0.12403	0.014000	0.13228	0.511000	0.19080	-0.185000	0.09859	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.3576:0.1534:0.4889:0.0	5.571	0.16482	976	0.04745	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1341.98	39	chr14	104886737	.	G	A	1341.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=857;ExcessHet=0.0000;FS=2.601;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=0.474;SOR=1.030	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1013	20	0	1	0
chr14	104887105	104887105	G	A	exonic	CEP170B	.	nonsynonymous SNV	CEP170B:NM_015005:exon11:c.G2656A:p.V886M	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.22	M	0.07	T	-0.044	T	0.427	T	0.196	2.715	15.04	4.33	1.933	2.646	16.805	0.228	0.380392907891	7.9e-05	.	0.0004	0.0001	0	0	0.0002	9.396e-05	0	0.0023	0.0002911	45	154602	rs200257503	0.0002	0.0002	0.0001	0.0002	0.0022	0.0002	0.0002	0.0019	0.0018	2.987e-05	0	0	0	0.0002	0.0002	4.678e-05	3.315e-05	0.0022	0.0002	0.0002	0.0001	0.0003	0.0025	0.0001	0.0001	0.0014	0.0011	7.237e-05	0	6.54e-05	0	0	0.0006	0	7.35e-05	0	0.0025	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000029	0.55875	D	0.070231	0.991663	0.81001	D	3.095	0.87515	M	0.07	0.64264	T	-2.65	0.56787	D	0.3	0.33904	-0.0442	0.81329	T	0.427	0.77015	T	10	0.030845761	0.01214	T	0.380393	0.92958	D	0.228	0.52768	.	.	0.600755789398	0.59757	0.1018540274202779	0.10116	0.570923923692	0.53234	0.540897965431	0.44572	T	0.224831	0.58938	T	-0.376373	0.03283	T	-0.320674	0.42500	T	0.266588375161817	0.23601	T	0.783522	0.45144	T	.	.	.	.	.	.	.	.	-8.62	0.65222	D	.	.	0.204	0.43004	B	.;.;.	.;.;.	2.957314	0.39368	20.9	0.99875425346307833	0.95244	0.92166	0.55092	D	AEFDBI	0.335546	0.43395	N	0.434617511230321	0.63338	4.565382	0.322877273450313	0.56888	3.852808	0.994063053020121	0.33472	0.706548	0.73137	0	0.547309	0.14657	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.33	4.33	0.51083	2.730000	0.47007	2.696000	0.34125	-0.984000	0.01883	0.988000	0.36536	0.999000	0.35428	0.707000	0.34357	0.0:0.0:1.0:0.0	16.805	0.85485	976	0.04745	.;.;CEP170, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1817.98	39	chr14	104887105	.	G	A	1817.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.042;DP=877;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.78;ReadPosRankSum=-1.977e+00;SOR=0.689	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1013	20	0	1	0
chr14	104930816	104930816	C	G	exonic	PLD4	.	stopgain	PLD4:NM_001308174:exon7:c.C813G:p.Y271X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	6.365	37	3.71	2.258	0.190	8.510	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000001	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.388	0.43126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595077	0.97509	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.	.;High;.	9.785665	0.99314	43	0.99670697060754254	0.78587	0.95761	0.66042	D	AEFDBI	0.413414	0.48310	N	0.665506576789026	0.77375	6.662795	0.507023905609371	0.68463	5.223305	0.99797469162695	0.36262	0.706298	0.61202	0	0.709663	0.81188	0	0.596491	0.31596	0	0.421638	0.06922	2	.	.	4.62	3.71	0.41733	0.486000	0.22048	1.521000	0.27092	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.986000	0.61781	0.0:0.7594:0.0:0.2406	8.510	0.32372	982	0.03397	.;PLD-like domain;PLD-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2281.98	36	chr14	104930816	.	C	G	2281.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.099;DP=859;ExcessHet=0.0000;FS=3.672;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.09;ReadPosRankSum=0.103;SOR=0.931	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr14	104939561	104939561	A	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T15590C:p.V5197A	.	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.02	B	0.01	B	0.208	N	1.000	N	0.345	N	4.12	T	-1.004	T	0.007	T	0.026	1.960	12.51	-10.1	-3.596	-0.455	8.482	0.031	0.00329126013499	.	.	0.0001	0	0	0	0	1.504e-05	0.0011	0.0010	0.0001164	18	154602	rs752268831	7.937e-05	7.935e-05	3.131e-05	0.0001	0.0012	6.735e-05	6.268e-05	0.0010	0.0009	0	0	0	2.519e-05	0	0.0005	6.296e-06	4.97e-05	0.0012	4.596e-05	4.593e-05	3.855e-05	5.37e-05	0.0010	2.108e-05	1.526e-05	0.0004	0.0003	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0010	0.257	0.31834	T	0.298	0.20486	T	0.02	0.18235	B	0.01	0.14941	B	0.207868	0.03365	N	2.072700	1	0.08975	N	0.895	0.22405	L	4.02	0.03178	T	-1.37	0.33998	N	0.03	0.13484	-1.0041	0.28725	T	0.007	0.02321	T	10	0.011441469	0.00250	T	0.003291	0.07298	T	0.031	0.07369	0.233	0.16155	0.0138822411134	0.00435	0.012910041846593265	0.01249	.	.	0.304935336113	0.11141	T	0.02514	0.18856	T	-0.695674	0.00039	T	-0.828412	0.01290	T	0.0715735331177711	0.08870	T	0.217178	0.02739	T	0.02813883	0.02107	0.02919545	0.01231	0.02813883	0.02107	0.02919545	0.01230	-3.729	0.19747	T	.	.	0.120	0.49314	B	.;.	.;.	-1.123851	0.00612	0.016	0.7423507095453874	0.10620	0.01519	0.05013	N	AEFDBI	0.035858	0.04683	N	-1.77524929535592	0.00608	0.02623002	-1.89683582444905	0.00497	0.02200889	0.999999999986384	0.74766	0.634777	0.41761	0	0.563428	0.19063	0	0.39291	0.06387	1	0.645665	0.59343	0	.	.	5.07	-10.1	0.00330	-0.171000	0.09872	-2.106000	0.04204	-0.576000	0.04747	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.16:0.1901:0.5561:0.0938	8.482	0.32210	982	0.03397	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2347.98	120	chr14	104939561	.	A	G	2347.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.200e-02;DP=2775;ExcessHet=0.0000;FS=0.547;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.97;ReadPosRankSum=-1.232e+00;SOR=0.642	GT:AD:DP:GQ:PL	0/0:136,0:136:99:0,120,1800	20	0	1	0
chr14	104941264	104941264	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A13887G:p.I4629M	.	.	428	1066	28	0	0	28	0.012963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.145	B	0.033	B	.	.	1.000	N	0	N	3.36	T	-0.962	T	0.007	T	0.059	1.131	9.610	-4.31	-2.062	-2.286	0.253	0.070	.	0.0005	0.00259585	0.0027	0.0001	0.0010	0	0	0.0004	0.0089	0.0166	0.0022121	342	154602	rs182857858	0.0014	0.0014	0.0009	0.0020	0.0167	0.0014	0.0014	0.0160	0.0157	0.0001	0.0004	3.826e-05	0	0	0.0075	0.0004	0.0013	0.0167	0.0008	0.0008	0.0007	0.0010	0.0149	0.0007	0.0007	0.0121	0.0111	0.0002	0	0.0008	0.0003	0	0	0	0.0005	0.0005	0.0149	0.132	0.26519	T	0.02	0.58613	D	0.145	0.27759	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.36	0.05918	T	-1.08	0.28084	N	0.107	0.09207	-0.9623	0.38742	T	0.007	0.02478	T	9	0.0034912825	0.00062	T	.	.	.	0.070	0.20419	.	.	0.0138822411134	0.00435	0.015849689489337817	0.01540	.	.	0.252390891314	0.04023	T	0.024125	0.18290	T	-0.726243	0.00025	T	-0.802348	0.01844	T	0.00760406410384063	0.00088	T	0.222078	0.02867	T	0.079244554	0.18093	0.053880945	0.09161	0.079244554	0.18093	0.053880945	0.09161	-3.301	0.13750	T	.	.	0.080	0.07985	B	.	.	-0.033768	0.04055	0.940	0.95836662611001833	0.27952	0.00239	0.01331	N	AEFGBI	.	.	.	-1.4926381712014	0.01901	0.08343875	-1.62574634165268	0.01506	0.06819093	0.999216844484621	0.38775	0.67177	0.52595	0	0.588066	0.40923	0	0.547309	0.15389	0	0.711	0.71501	0	.	.	2.15	-4.31	0.03443	-3.192000	0.00623	-1.085000	0.06377	0.502000	0.22824	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3665:0.1482:0.211:0.2743	0.253	0.00193	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3097.98	99	chr14	104941264	.	T	C	3097.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.70;DP=2541;ExcessHet=0.0000;FS=5.337;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=-1.123e+00;SOR=0.758	GT:AD:DP:GQ:PL	0/0:101,0:101:99:0,120,1800	20	0	1	0
chr14	104942808	104942808	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C12343T:p.H4115Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.975	D	0.986	D	0.081	U	1.000	N	2.565	M	4.56	T	-1.115	T	0.025	T	0.214	0.029	4.163	3.08	1.573	2.636	7.384	0.056	0.00815061457905	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1427799878	2.053e-06	2.052e-06	1.362e-06	2.751e-06	1.159e-05	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	8.995e-07	1.657e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.28026	T	0.099	0.38891	T	0.975	0.58077	D	0.986	0.76916	D	0.081263	0.20876	U	0.240256	1	0.08975	N	2.24	0.63355	M	4.56	0.01933	T	-2.06	0.47175	N	0.277	0.31365	-1.1149	0.02681	T	0.025	0.10688	T	10	0.19350597	0.35123	T	0.008151	0.21598	T	0.056	0.15993	0.267	0.21418	0.144782658237	0.14088	0.011231820960687745	0.01083	.	.	0.267668247223	0.05839	T	0.023916	0.18170	T	-0.294573	0.09181	T	-0.564056	0.15999	T	0.440491825342178	0.30448	T	0.756624	0.37993	T	0.07097241	0.15677	0.08293653	0.18968	0.07097241	0.15676	0.08293653	0.18968	-7.749	0.59348	D	.	.	0.153	0.33823	B	.	.	2.282725	0.29193	18.04	0.9458279792870482	0.25126	0.26585	0.23035	N	AEFBI	.	.	.	0.115619109950379	0.47191	2.948317	-0.104043557233146	0.35226	2.035543	0.229271474234076	0.18446	0.706548	0.73137	0	0.547309	0.14657	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	3.08	3.08	0.34576	1.890000	0.39362	0.588000	0.19789	0.612000	0.49041	0.026000	0.20160	0.000000	0.08366	0.017000	0.10941	0.0:0.0:0.74:0.26	7.384	0.26048	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	5052.98	261	chr14	104942808	.	G	A	5052.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.739e+00;DP=5723;ExcessHet=0.0000;FS=3.406;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.84;MQRankSum=-9.690e-01;QD=19.59;ReadPosRankSum=-1.364e+00;SOR=0.521	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:286,0:286:99:.:.:0,120,1800	20	0	1	0
chr14	104942817	104942817	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C12334T:p.L4112F	.	.	.	.	.	.	.	.	.	.	.	2438504	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.74	T	0.562	P	0.437	B	0.928	U	1.000	N	2.52	M	4.37	T	-0.938	T	0.010	T	0.191	1.939	12.44	-5.01	-0.637	-0.537	0.831	0.064	0.00207167928624	.	.	1.666e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs775778984	7.528e-06	1.094e-05	5.447e-06	9.63e-06	3.478e-05	4.04e-06	2.95e-06	9.24e-06	4.56e-06	0	0	0	0	0	0	5.397e-06	3.314e-05	3.478e-05	0	2.629e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.254	0.16903	T	0.33	0.18560	T	0.562	0.38380	P	0.437	0.45591	B	0.928047	0.07518	U	1.066680	1	0.08975	N	1.69	0.43327	L	4.37	0.02277	T	-0.75	0.21003	N	0.13	0.12484	-0.9376	0.42994	T	0.010	0.03811	T	10	0.093654424	0.16590	T	0.002072	0.03801	T	0.064	0.18567	0.302	0.27003	0.0138822411134	0.00435	0.009189122105641847	0.00881	.	.	0.230867519975	0.02033	T	0.025562	0.19092	T	-0.301634	0.08506	T	-0.671053	0.07541	T	0.0828695744276047	0.10350	T	0.539346	0.18229	T	0.024057297	0.01201	0.036863565	0.03218	0.024057297	0.01201	0.036863565	0.03217	-7.231	0.55703	T	.	.	0.115	0.23077	B	.	.	0.162939	0.05532	1.993	0.92338334620073936	0.21737	0.01426	0.04804	N	AEFBI	.	.	.	-1.22313245087032	0.04666	0.2110752	-1.45007783367353	0.02769	0.1279822	0.67005504194832	0.22365	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.61	-5.01	0.02768	-1.550000	0.02284	-20.000000	0.00162	-0.807000	0.03101	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1574:0.2456:0.2305:0.3665	0.831	0.01058	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	5016.98	261	chr14	104942817	.	G	A	5016.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.81;DP=5718;ExcessHet=0.0000;FS=3.456;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.83;MQRankSum=-9.650e-01;QD=19.67;ReadPosRankSum=-2.254e+00;SOR=0.505	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:286,0:286:99:.:.:0,120,1800	20	0	1	0
chr14	104943471	104943471	T	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A11680T:p.T3894S	.	.	425	1092	5	0	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.033	B	0.051	B	.	.	1.000	N	-2.345	N	5.79	T	-0.945	T	0.001	T	0.108	-0.840	0.573	-4.77	-1.179	-3.429	4.038	0.030	.	.	0.00539137	0.0021	0.0006	0.0003	0.0103	0	0.0001	0.0078	0.0086	0.0011526	30	26028	rs200747295	0.0010	0.0011	0.0008	0.0012	0.0090	0.0010	0.0010	0.0085	0.0083	0.0003	0.0002	3.828e-05	0.0051	5.627e-05	0.0014	0.0002	0.0045	0.0090	0.0013	0.0014	0.0009	0.0017	0.0174	0.0011	0.0011	0.0143	0.0132	0.0006	0	0.0001	0	0.0131	9.52e-05	0	0.0002	0.0044	0.0174	1.0	0.00964	T	1.0	0.01155	T	0.033	0.20350	B	0.051	0.25434	B	.	.	.	.	1	0.08975	N	-1.195	0.00846	N	5.79	0.00674	T	1.33	0.00912	N	0.035	0.01004	-0.9453	0.41764	T	0.001	0.00222	T	9	0.00428766	0.00086	T	.	.	.	0.030	0.07022	0.113	0.02240	0.0138822411134	0.00435	0.010286315505471466	0.00989	.	.	0.222926497459	0.01486	T	0.016224	0.13452	T	-0.710354	0.00032	T	-0.78212	0.02390	T	0.00218717536415347	0.00023	T	0.185981	0.01934	T	0.016578494	0.00207	0.022815857	0.00300	0.016578494	0.00207	0.022815857	0.00300	2.293	0.00039	T	.	.	0.079	0.07130	B	.	.	-1.824141	0.00149	0.002	0.16891457384060568	0.00471	0.00470	0.02253	N	AEFBI	.	.	.	-2.45546062015118	0.00020	0.0008736942	-2.38746393680055	0.00042	0.001844221	0.00411138777418775	0.10422	0.706548	0.73137	0	0.588066	0.40923	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.19	-4.77	0.02985	-3.735000	0.00426	-20.000000	0.00162	-0.677000	0.04263	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.233:0.0979:0.0754:0.5937	4.038	0.09220	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	10199.98	261	chr14	104943471	.	T	A	10199.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.77;DP=5890;ExcessHet=0.0000;FS=3.221;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.72;MQRankSum=-7.046e+00;QD=20.90;ReadPosRankSum=-1.096e+00;SOR=0.931	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:286,0:286:99:.:.:0,120,1800	20	0	1	0
chr14	104943566	104943566	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C11585T:p.T3862M	.	.	430	1086	6	0	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.999	D	0.949	D	.	.	1.000	N	2.125	M	5.85	T	-0.897	T	0.001	T	0.053	1.921	12.38	0.646	0.659	.	7.274	0.040	.	0.0100	0.014377	0.0033	0.0324	0.0026	0	0	0.0006	0.0045	0.0004	0.0032665	505	154602	rs115776887	0.0014	0.0014	0.0015	0.0013	0.0391	0.0014	0.0013	0.0373	0.0366	0.0391	0.0028	0	2.519e-05	1.873e-05	0.0097	0.0003	0.0042	0.0003	0.0101	0.0100	0.0104	0.0097	0.0337	0.0096	0.0095	0.0322	0.0316	0.0337	0	0.0053	0	0	0	0.0068	0.0005	0.0090	0.0002	0.087	0.32453	T	0.102	0.38450	T	0.999	0.77913	D	0.949	0.68658	D	.	.	.	.	1	0.08975	N	1.7	0.43825	L	5.85	0.00643	T	-1.03	0.27052	N	0.131	0.12627	-0.8975	0.48244	T	0.001	0.00255	T	9	0.00330168	0.00057	T	.	.	.	0.040	0.10527	.	.	0.0666544352282	0.05500	0.012012170399585569	0.01160	.	.	0.218775361776	0.01240	T	0.021617	0.16804	T	-0.694067	0.00040	T	-0.744688	0.03696	T	0.00561337353458424	0.00061	T	0.422258	0.11242	T	0.014145603	0.00082	0.025520694	0.00599	0.014145603	0.00082	0.025520694	0.00599	-7.972	0.60879	D	.	.	0.118	0.24054	B	.	.	2.159669	0.27512	17.49	0.98437412873938401	0.41464	0.03208	0.08207	N	AEFBI	.	.	.	-0.314246213167776	0.28606	1.579237	-0.578729697712951	0.20048	1.078403	1.06738734432497E-4	0.05123	0.706548	0.73137	0	0.588066	0.40923	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	4.0	0.646	0.16961	-0.251000	0.08837	-4.000000	0.02402	0.614000	0.49286	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1322:0.4788:0.3889	7.274	0.25449	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	6365.98	261	chr14	104943566	.	G	A	6365.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.38;DP=6074;ExcessHet=0.0000;FS=1.730;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.91;MQRankSum=-1.920e+00;QD=13.72;ReadPosRankSum=0.695;SOR=0.799	GT:AD:DP:GQ:PL	0/0:286,0:286:99:0,120,1800	20	0	1	0
chr14	104944134	104944134	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G11017A:p.V3673I	.	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.001	B	0.001	B	.	.	1.000	N	0.04	N	4.92	T	-0.910	T	0.000	T	0.01	0.749	7.970	-8.86	-2.256	-5.627	4.487	0.022	.	0.0100	0.014377	0.0032	0.0322	0.0026	0	0	0.0005	0.0045	0.0003	0.003163	489	154602	rs146965608	0.0014	0.0014	0.0015	0.0012	0.0388	0.0013	0.0013	0.0370	0.0363	0.0388	0.0027	0	0	5.623e-05	0.0087	0.0002	0.0040	0.0003	0.0098	0.0099	0.0101	0.0095	0.0328	0.0094	0.0092	0.0314	0.0308	0.0328	0	0.0053	0	0	0	0.0068	0.0004	0.0095	0.0004	0.387	0.10945	T	0.408	0.14633	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.135	0.08676	N	4.92	0.01404	T	-0.43	0.14390	N	0.037	0.01135	-0.9102	0.46830	T	0.000	0.00075	T	9	0.0018815398	0.00025	T	.	.	.	0.022	0.04323	.	.	0.0138822411134	0.00435	0.0029900633999147244	0.00279	.	.	0.208940193057	0.00767	T	0.017415	0.14211	T	-0.804131	0.00007	T	-0.902787	0.00483	T	0.00672915509960129	0.00076	T	0.244176	0.03564	T	0.013245458	0.00053	0.017322784	0.00030	0.013245458	0.00053	0.017322784	0.00030	-7.3	0.56196	T	.	.	0.080	0.07745	B	.	.	-2.225659	0.00060	0.001	0.71937936984819606	0.09800	0.00209	0.01192	N	AEFBI	.	.	.	-2.10918558430222	0.00122	0.005230481	-2.19631987286994	0.00114	0.005015375	0.998176283241786	0.36530	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.43	-8.86	0.00686	-6.013000	0.00104	-20.000000	0.00162	-6.837000	0.00002	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0903:0.4064:0.2735:0.2298	4.487	0.11208	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	5137.98	362	chr14	104944134	.	C	T	5137.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.95;DP=7184;ExcessHet=0.0000;FS=3.438;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.35;ReadPosRankSum=0.784;SOR=0.888	GT:AD:DP:GQ:PL	0/0:330,0:330:99:0,120,1800	20	0	1	0
chr14	104944175	104944175	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C10976T:p.A3659V	.	.	433	1058	31	0	0	31	0.0144388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.012	B	0.01	B	0.300	U	1.000	N	1.245	L	5.83	T	-0.904	T	0.003	T	0.107	1.504	10.98	-1.91	-0.238	-0.321	4.779	0.037	0.024738690492	.	.	4.977e-05	0.0001	0	0	0	0	0	0.0003	3.84e-05	1	26028	rs762470858	3.971e-05	7.868e-05	3.542e-05	4.404e-05	0.0002	3.115e-05	2.849e-05	3.767e-05	2.755e-05	2.992e-05	0	0	0	0	0.0002	4.049e-05	6.632e-05	8.12e-05	4.058e-05	0.0014	5.287e-05	2.77e-05	0.0001	1.757e-05	1.157e-05	4.944e-05	3.19e-05	0.0001	0	0	0	0	0	0	1.489e-05	0	0	0.028	0.46129	D	0.063	0.45110	T	0.012	0.16265	B	0.01	0.14941	B	0.299966	0.03948	U	1.840710	1	0.08975	N	0.205	0.09354	N	5.83	0.00652	T	-2.56	0.55339	D	0.069	0.04188	-0.9045	0.47504	T	0.003	0.00929	T	10	0.06377372	0.08357	T	0.024739	0.47726	T	0.037	0.09474	.	.	0.0138822411134	0.00435	0.004746779182261101	0.00447	.	.	0.167820572853	0.00025	T	0.024804	0.18673	T	-0.539558	0.00337	T	-0.738514	0.03953	T	0.0586531829207644	0.06954	T	0.236476	0.03296	T	0.04050458	0.05794	0.058473505	0.10811	0.04050458	0.05794	0.058473505	0.10811	-1.868	0.02720	T	.	.	0.092	0.13362	B	.	.	-0.717969	0.01279	0.067	0.97329653179763331	0.33418	0.02806	0.07531	N	AEFBI	.	.	.	-1.08578588282399	0.06905	0.319191	-1.17118712972313	0.06395	0.3077083	1.61262701251638E-4	0.05721	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.13	-1.91	0.07225	-0.804000	0.04641	-20.000000	0.00162	-1.927000	0.00502	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5597:0.1748:0.2655:0.0	4.779	0.12563	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	272.98	362	chr14	104944175	.	G	A	272.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.884;DP=6515;ExcessHet=0.0000;FS=12.936;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.88;MQRankSum=-1.929e+01;QD=0.64;ReadPosRankSum=-1.552e+00;SOR=2.309	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:330,0:330:99:.:.:0,120,1800	20	0	1	0
chr14	104944178	104944178	G	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C10973G:p.T3658R	.	.	433	1072	17	0	0	17	0.00786673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.017	B	0.008	B	0.046	U	1.000	N	1.775	L	4.71	T	-0.885	T	0.008	T	0.173	0.854	8.455	-1.33	-0.539	-1.160	5.487	0.032	0.00946792399026	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1183612492	2.053e-06	3.215e-05	1.362e-06	2.752e-06	2.32e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	8.996e-07	0	2.32e-05	6.766e-06	0.0012	1.322e-05	0	2.543e-05	0	0	.	.	2.543e-05	0	0	0	0	0	0	0	0	0	0.556	0.06461	T	0.654	0.06643	T	0.017	0.17573	B	0.008	0.13708	B	0.045649	0.01949	U	4.017220	1	0.08975	N	1.095	0.27400	L	4.71	0.01655	T	-0.41	0.14000	N	0.087	0.06454	-0.8847	0.49382	T	0.008	0.02679	T	10	0.055714905	0.06134	T	0.009468	0.24809	T	0.032	0.07718	0.229	0.15556	0.0138822411134	0.00435	0.004878085995868745	0.00459	.	.	0.215819358826	0.01082	T	0.020774	0.16293	T	-0.314783	0.07334	T	-0.689941	0.06392	T	0.0369846471797902	0.03153	T	0.308469	0.05950	T	0.026394365	0.01691	0.034579005	0.02549	0.026394365	0.01691	0.034579005	0.02549	-6.347	0.49094	T	.	.	0.087	0.11172	B	.	.	-0.339081	0.02450	0.281	0.62540945077157595	0.06989	0.01830	0.05681	N	AEFBI	.	.	.	-1.28187589143296	0.03893	0.1747631	-1.36185924592355	0.03668	0.1715764	1.3216691354537E-4	0.05486	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.4	-1.33	0.08693	-1.086000	0.03497	-20.000000	0.00162	-1.018000	0.01743	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0856:0.3845:0.4154:0.1145	5.487	0.16046	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	158.98	362	chr14	104944178	.	G	C	158.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.97;DP=6508;ExcessHet=0.0000;FS=10.739;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.87;MQRankSum=-1.974e+01;QD=0.38;ReadPosRankSum=-2.021e+00;SOR=2.399	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:330,0:330:99:.:.:0,120,1800	20	0	1	0
chr14	104944187	104944187	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C10964T:p.A3655V	.	.	432	1078	12	0	0	12	0.00553506	.	.	2371904	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.37	T	0.012	B	0.005	B	0.003	U	1.000	N	0.77	N	5.63	T	-0.965	T	0.003	T	0.068	-0.811	0.646	-6.83	-2.872	-0.935	14.090	0.057	0.00404983418982	.	0.000199681	0.0003	0.0002	0.0009	0	0	0.0004	0	6.056e-05	0.0002846	44	154602	rs201313753	0.0006	0.0006	0.0006	0.0006	0.0008	0.0005	0.0005	0.0007	0.0006	8.969e-05	0.0008	3.827e-05	0	0	0	0.0007	0.0004	6.957e-05	0.0004	0.0012	0.0004	0.0004	0.0014	0.0003	0.0003	0.0009	0.0008	0.0003	0	0.0014	0	0.0002	0	0	0.0004	0	0	0.181	0.21884	T	0.199	0.27679	T	0.012	0.16265	B	0.005	0.11217	B	0.002864	0.35804	U	0.000000	1	0.08975	N	-0.345	0.03330	N	5.63	0.00800	T	0.37	0.03639	N	0.06	0.03175	-0.9647	0.38270	T	0.003	0.00800	T	10	0.008428931	0.00191	T	0.00405	0.09650	T	0.057	0.16321	.	.	0.0138822411134	0.00435	0.0037587487726221257	0.00351	.	.	0.184906214476	0.00148	T	0.015985	0.13301	T	-0.680879	0.00047	T	-0.801253	0.01872	T	0.0283894649983659	0.01745	T	0.533547	0.17787	T	0.014713073	0.00105	0.038435727	0.03713	0.014713073	0.00105	0.038435727	0.03713	-4.635	0.32608	T	.	.	0.108	0.20508	B	.	.	-0.017385	0.04162	1.002	0.26437583856384472	0.01266	0.01340	0.04609	N	AEFBI	.	.	.	-2.26900927051647	0.00054	0.002296346	-2.36564161484216	0.00047	0.002074123	0.925817267205096	0.26829	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.42	-6.83	0.01532	-0.839000	0.04475	0.000000	0.13247	-1.245000	0.01309	0.000000	0.06391	0.134000	0.23028	0.000000	0.00833	0.3732:0.0958:0.531:0.0	14.090	0.64511	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	44.98	362	chr14	104944187	.	G	A	44.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.04;DP=6486;ExcessHet=0.0000;FS=37.515;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.81;MQRankSum=-1.876e+01;QD=0.11;ReadPosRankSum=-3.824e+00;SOR=3.736	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:330,0:330:99:.:.:0,120,1800	20	0	1	0
chr14	104944616	104944616	T	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A10535C:p.K3512T	.	.	0	224	2	0	0	2	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.003	B	0.004	B	.	.	1.000	N	1.925	M	5.41	T	-0.915	T	0.004	T	0.118	1.177	9.788	-3.02	-0.522	-0.849	6.059	0.018	0.00323837589653	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772554019	6.195e-06	6.156e-06	4.108e-06	8.306e-06	0.0003	2.92e-06	2.11e-06	6.119e-05	2.531e-05	0	0	0	0	0	0.0003	1.805e-06	3.332e-05	3.545e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.13789	T	0.434	0.13557	T	0.003	0.11197	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.125	0.28843	L	5.41	0.01008	T	-1.85	0.43334	N	0.101	0.08366	-0.9155	0.46155	T	0.004	0.01400	T	9	0.036355436	0.01930	T	0.003238	0.07147	T	0.018	0.03083	0.291	0.25241	0.0297737177859	0.01360	0.019583498918546893	0.01912	.	.	0.193800568581	0.00299	T	0.020301	0.16009	T	-0.461577	0.00961	T	-0.719272	0.04831	T	0.0405432987582317	0.03789	T	0.182682	0.01864	T	0.028251315	0.02134	0.03221052	0.01923	0.028251315	0.02134	0.03221052	0.01923	-4.83	0.34939	T	.	.	0.119	0.24329	B	.	.	-0.690094	0.01344	0.075	0.89592783904981776	0.18930	0.04509	0.10133	N	AEFBI	.	.	.	-1.38256486416742	0.02801	0.124228	-1.49956825719517	0.02348	0.1078646	2.99359285535121E-4	0.06406	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.31	-3.02	0.05116	-0.035000	0.12156	-20.000000	0.00162	-5.034000	0.00016	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2712:0.2391:0.4897	6.059	0.19054	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	5910.98	458	chr14	104944616	.	T	G	5910.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.826e+00;DP=5981;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.95;MQRankSum=1.49;QD=12.91;ReadPosRankSum=0.783;SOR=0.703	GT:AD:DP:GQ:PL	0/0:276,0:276:99:0,120,1800	20	0	1	0
chr14	104945396	104945396	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A9755G:p.K3252R	.	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.993	D	0.86	P	.	.	1.000	N	2.87	M	4.69	T	-0.978	T	0.002	T	0.088	2.837	15.45	3.47	0.618	0.751	2.293	0.063	.	0.0077	0.0125799	0.0028	0.0282	0.0021	0	0	0.0004	0.0045	0.0003	0.002749	425	154602	rs138075057	0.0012	0.0012	0.0013	0.0011	0.0347	0.0012	0.0012	0.0330	0.0324	0.0347	0.0023	0	0	0	0.0087	0.0002	0.0037	0.0003	0.0088	0.0088	0.0090	0.0085	0.0293	0.0084	0.0082	0.0279	0.0273	0.0293	0	0.0050	0	0	0	0.0068	0.0004	0.0081	0.0002	0.17	0.22833	T	0.064	0.44905	T	0.993	0.65571	D	0.86	0.61233	P	.	.	.	.	1	0.08975	N	2.44	0.70756	M	4.69	0.01694	T	-2.22	0.49846	N	0.075	0.04913	-0.9777	0.35526	T	0.002	0.00526	T	9	0.00400424	0.00077	T	.	.	.	0.063	0.18251	.	.	0.0297737177859	0.01360	0.006047453387320562	0.00573	.	.	0.250723749399	0.03845	T	0.020423	0.16081	T	-0.634358	0.00090	T	-0.661675	0.08153	T	0.0272789370845872	0.01584	T	0.605739	0.22785	T	0.032743193	0.03357	0.043346673	0.05373	0.032743193	0.03356	0.043346673	0.05373	-8.849	0.66720	D	.	.	0.108	0.20469	B	.	.	1.125561	0.15115	11.60	0.99555581041220964	0.71459	0.08773	0.14652	N	AEFBI	.	.	.	-0.200672448861558	0.33107	1.874564	-0.433203375953433	0.24029	1.313606	4.27591382249096E-4	0.06935	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.65	3.47	0.38831	1.338000	0.33478	-1.241000	0.05933	-0.193000	0.09282	0.034000	0.20669	0.000000	0.08366	0.007000	0.07825	0.1564:0.0853:0.1629:0.5953	2.293	0.03889	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	4403.98	415	chr14	104945396	.	T	C	4403.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.667e+00;DP=8392;ExcessHet=0.0000;FS=2.727;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.99;MQRankSum=0.00;QD=11.74;ReadPosRankSum=-7.850e-01;SOR=0.842	GT:AD:DP:GQ:PL	0/0:472,0:472:99:0,120,1800	20	0	1	0
chr14	104945709	104945709	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A9442G:p.I3148V	.	.	435	1085	2	0	0	2	0.00092081	.	.	2807401	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.141	B	0.058	B	.	.	1.000	N	0.255	N	5.92	T	-0.939	T	0.001	T	0.147	-2.905	0.001	-2.8	-1.205	-0.440	3.483	0.012	0.00873463288523	.	.	7.494e-05	0.0001	8.639e-05	0	0	7.556e-05	0	0.0001	7.76e-05	12	154602	rs112299271	0.0001	0.0002	0.0001	0.0001	0.0035	9.679e-05	9.158e-05	0.0023	0.0019	0.0001	8.951e-05	0	2.519e-05	0	0.0035	9.899e-05	0.0002	9.28e-05	8.646e-05	0.0006	7.035e-05	0.0001	0.0001	4.901e-05	3.831e-05	5.414e-05	3.791e-05	7.526e-05	0	7.135e-05	0	0	0	0	0.0001	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.141	0.27581	B	0.058	0.26451	B	.	.	.	.	1	0.18198	N	-0.205	0.04094	N	5.92	0.00621	T	0.03	0.06612	N	0.031	0.00770	-0.9393	0.42727	T	0.001	0.00438	T	9	0.01993543	0.00452	T	0.008735	0.23050	T	0.012	0.01476	0.239	0.17065	0.0297737177859	0.01360	0.00520050722575818	0.00491	.	.	0.178495123982	0.00081	T	0.016629	0.13711	T	-0.468012	0.00875	T	-0.705493	0.05531	T	0.0187772940148703	0.00589	T	0.339966	0.07337	T	0.0141634615	0.00083	0.019809004	0.00105	0.0141634615	0.00083	0.019809004	0.00105	1.12	0.00117	T	.	.	0.081	0.08417	B	.	.	-1.974462	0.00107	0.002	0.19885651355239545	0.00691	0.04506	0.10129	N	AEFBI	.	.	.	-2.0555961544597	0.00160	0.006856328	-2.08901542942789	0.00197	0.008665702	2.82166859433212E-4	0.06355	0.732398	0.92422	0	0.588066	0.40923	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	3.11	-2.8	0.05477	-0.809000	0.04617	-20.000000	0.00162	-4.258000	0.00035	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1085:0.3889:0.1154:0.3872	3.483	0.07174	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	100.98	76	chr14	104945709	.	T	C	100.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.550;DP=3412;ExcessHet=0.0000;FS=20.075;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.20;MQRankSum=-1.456e+00;QD=0.35;ReadPosRankSum=-2.241e+00;SOR=2.220	GT:AD:DP:GQ:PL	0/0:168,0:168:99:0,120,1800	20	0	1	0
chr14	104945711	104945711	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A9440G:p.D3147G	.	.	437	1064	20	1	0	22	0.0102326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.999	D	0.998	D	.	.	1.000	N	3.325	M	4.56	T	-1.104	T	0.036	T	0.339	0.800	8.209	2.95	1.358	0.673	9.203	0.069	0.00160606406043	.	0.000599042	0.0006	0	0.0009	0	0	0.0004	0.0011	0.0018	0.0005045	78	154602	rs200045846	0.0003	0.0004	0.0002	0.0004	0.0049	0.0003	0.0003	0.0035	0.0030	2.988e-05	0.0005	0	0	0	0.0049	0.0002	0.0007	0.0016	0.0002	0.0003	0.0003	0.0002	0.0012	0.0002	0.0001	0.0005	0.0003	0	0	0.0002	0	0	0	0	0.0004	0.0005	0.0012	0.022	0.48642	D	0.061	0.45530	T	0.999	0.77913	D	0.998	0.88582	D	.	.	.	.	1	0.08975	N	2.795	0.81503	M	4.56	0.01933	T	-3.73	0.70920	D	0.205	0.22742	-1.1040	0.03640	T	0.036	0.15553	T	9	0.017894953	0.00385	T	0.001606	0.02574	T	0.069	0.20116	.	.	0.107399877778	0.10242	0.019300944833428736	0.01884	.	.	0.214619427919	0.01022	T	0.111464	0.42697	T	-0.454045	0.01069	T	-0.432244	0.29680	T	0.155301952476957	0.17518	T	0.668433	0.27736	T	0.11593374	0.27352	0.11815223	0.28522	0.11593374	0.27352	0.11815223	0.28522	-8.936	0.67284	D	.	.	0.179	0.39047	B	.	.	2.686068	0.35051	19.79	0.98138199759592337	0.38580	0.15688	0.19033	N	AEFBI	.	.	.	-0.0467745553855719	0.39747	2.348942	-0.350656538561117	0.26488	1.463424	2.72927506228462E-4	0.06300	0.732398	0.92422	0	0.588066	0.40923	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	2.95	2.95	0.33285	4.109000	0.57562	-2.102000	0.04210	0.603000	0.45986	0.248000	0.24829	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.1821:0.8179	9.203	0.36433	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1045.98	76	chr14	104945711	.	T	C	1045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.520e+00;DP=3426;ExcessHet=0.0000;FS=6.617;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=42.48;MQRankSum=0.662;QD=12.02;ReadPosRankSum=1.75;SOR=0.255	GT:AD:DP:GQ:PL	0/0:168,0:168:99:0,120,1800	20	0	1	0
chr14	104946203	104946204	AC	-	exonic	AHNAK2	.	frameshift deletion	AHNAK2:NM_001350929:exon7:c.8947_8948del:p.V2983Qfs*80	.	.	429	1073	19	1	0	21	0.00969082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0003	0	0	0.0002	0.0012	0.0007	3.84e-05	1	26028	rs757107721	0.0003	0.0004	0.0002	0.0004	0.0059	0.0003	0.0003	0.0043	0.0038	3.003e-05	0.0005	0	0	0	0.0059	0.0002	0.0007	0.0017	0.0003	0.0004	0.0003	0.0003	0.0011	0.0002	0.0002	0.0004	0.0003	0	0	0.0005	0	0	9.656e-05	0	0.0004	0.0005	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2461.94	36	chr14	104946202	.	GAC	G	2461.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=4001;ExcessHet=0.0000;FS=1.231;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.92;MQRankSum=-1.199e+00;QD=15.58;ReadPosRankSum=0.00;SOR=0.798	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:185,0:185:99:.:.:0,120,1800	20	0	1	0
chr14	104946204	104946204	C	0	exonic	AHNAK2	.	.	.	.	.	438	157	442	479	6	1406	0.816803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	106384.42	204	chr14	104946204	.	C	T,*	106384.42	.	AC=27,1;AF=0.643,0.024;AN=42;BaseQRankSum=-9.490e-01;DP=5401;ExcessHet=6.1794;FS=4.082;InbreedingCoeff=-0.2857;MLEAC=27,1;MLEAF=0.643,0.024;MQ=52.30;MQRankSum=-1.434e+01;QD=21.17;ReadPosRankSum=-1.256e+00;SOR=0.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,97,0:236:99:0|1:104946204_C_T:3637,0,5537,4056,5829,9885:104946204	1	7	12	0
chr14	104946206	104946206	-	GC	exonic	AHNAK2	.	frameshift insertion	AHNAK2:NM_001350929:exon7:c.8944_8945insGC:p.D2982Gfs*10	.	.	430	1071	20	1	0	22	0.0101664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0003	0	0	0.0002	0.0012	0.0008	3.84e-05	1	26028	rs745545429	0.0003	0.0004	0.0002	0.0004	0.0060	0.0003	0.0003	0.0044	0.0038	3.011e-05	0.0005	0	0	0	0.0060	0.0002	0.0007	0.0017	0.0003	0.0004	0.0003	0.0003	0.0012	0.0002	0.0002	0.0005	0.0003	0	0	0.0006	0	0	9.779e-05	0	0.0004	0.0005	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2461.94	180	chr14	104946206	.	T	TGC	2461.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=4874;ExcessHet=0.0000;FS=1.231;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.27;MQRankSum=-1.199e+00;QD=15.58;ReadPosRankSum=0.390;SOR=0.798	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:229,0:229:99:.:.:0,120,1800	20	0	1	0
chr14	104946366	104946366	C	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G8785C:p.E2929Q	.	.	433	1083	6	0	0	6	0.00276243	.	.	390167	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.001	B	.	.	1.000	N	-0.025	N	6.02	T	-0.964	T	0.000	T	0.072	-1.204	0.070	-0.247	-0.043	-3.294	5.097	0.022	.	.	0.0161741	0.0062	0.0009	0.0011	0.0528	0	0.0003	0.0022	0.0152	0.0057891	895	154602	rs192951700	0.0023	0.0024	0.0020	0.0026	0.0311	0.0022	0.0022	0.0297	0.0291	0.0004	0.0009	0.0020	0.0311	0	0.0026	8.733e-05	0.0083	0.0161	0.0035	0.0040	0.0028	0.0041	0.0619	0.0032	0.0031	0.0561	0.0539	0.0007	0	0.0015	0.0029	0.0619	0	0	0.0002	0.0059	0.0281	0.671	0.04548	T	0.534	0.09965	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.835	0.01514	N	6.02	0.00599	T	0.41	0.03407	N	0.132	0.12770	-0.9643	0.38350	T	0.000	0.00152	T	9	0.0035173297	0.00063	T	.	.	.	0.022	0.04323	.	.	0.0138822411134	0.00435	0.008642811397447946	0.00828	.	.	0.200078368187	0.00459	T	0.020	0.16069	T	-0.780172	0.00011	T	-0.847878	0.00987	T	0.000893557040401497	0.00008	T	0.316168	0.06277	T	0.023484753	0.01092	0.024533859	0.00474	0.023484753	0.01092	0.024533859	0.00474	-0.986	0.00984	T	.	.	0.062	0.01328	B	.	.	-1.712554	0.00190	0.003	0.1077389432472611	0.00145	0.00615	0.02724	N	AEFBI	.	.	.	-1.45976311396001	0.02141	0.09422169	-1.46092582869545	0.02673	0.1233625	1.05395675737298E-4	0.05123	0.706548	0.73137	0	0.588066	0.40923	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.24	-0.247	0.12376	-4.227000	0.00308	.	.	-1.992000	0.00454	0.000000	0.06391	.	.	0.000000	0.00833	0.0791:0.3162:0.4257:0.179	5.097	0.14072	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	5133.98	200	chr14	104946366	.	C	G	5133.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.900e-02;DP=5016;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.43;MQRankSum=1.47;QD=12.77;ReadPosRankSum=0.692;SOR=0.681	GT:AD:DP:GQ:PL	0/0:233,0:233:99:0,120,1800	20	0	1	0
chr14	104946452	104946452	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C8699T:p.S2900L	.	.	429	1091	2	0	0	2	0.000915751	.	.	2807410	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.14	T	0.934	P	0.332	B	.	.	0.717	N	2.52	M	5.52	T	-0.921	T	0.006	T	0.058	1.983	12.59	4.35	1.995	.	12.420	0.102	0.0138230851686	.	.	0.0008	0.0076	0.0004	0.0001	0	0.0001	0.0022	0.0001	0.0001921	5	26028	rs202121993	8.091e-05	0.0010	8.188e-05	7.993e-05	0.0016	6.884e-05	6.436e-05	0.0012	0.0011	0.0016	0.0002	0	0	1.875e-05	0	3.509e-05	0.0003	3.48e-05	0.0018	0.0078	0.0019	0.0017	0.0061	0.0016	0.0016	0.0055	0.0052	0.0061	0	0.0013	0	0.0006	0	0	7.383e-05	0.0025	0	0.04	0.42199	D	0.039	0.51112	D	0.934	0.52202	P	0.332	0.42135	B	.	.	.	.	0.716902	0.33576	D	2.25	0.63811	M	5.52	0.00903	T	-3.38	0.66780	D	0.144	0.14480	-0.9211	0.45403	T	0.006	0.02168	T	9	0.012268633	0.00264	T	0.013823	0.33509	T	0.102	0.29158	.	.	0.204665344411	0.20097	0.008659763540872278	0.00829	.	.	0.232950568199	0.02194	T	0.031531	0.22084	T	-0.300588	0.08604	T	-0.66955	0.07637	T	0.044716009564275	0.04550	T	0.717928	0.33070	T	0.12644622	0.29616	0.110172465	0.26562	0.12644622	0.29616	0.110172465	0.26562	-4.217	0.26997	T	.	.	0.087	0.11366	B	.	.	1.800224	0.22880	15.80	0.98780257916961156	0.46112	0.13701	0.18004	N	AEFBI	.	.	.	-0.151124594507882	0.35188	2.017916	-0.31412728177877	0.27642	1.535277	0.0220543555600699	0.13400	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.35	4.35	0.51454	3.599000	0.53795	-1.385000	0.05564	0.593000	0.32247	0.301000	0.25333	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	12.420	0.54851	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1053.98	200	chr14	104946452	.	G	A	1053.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.584;DP=5367;ExcessHet=0.0000;FS=7.998;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.83;MQRankSum=-2.451e+01;QD=1.29;ReadPosRankSum=4.07;SOR=1.478	GT:AD:DP:GQ:PL	0/0:233,0:233:99:0,120,1800	20	0	1	0
chr14	104946699	104946699	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G8452A:p.V2818I	.	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99	T	0.002	B	0.001	B	.	.	0.554	N	0.26	N	5.64	T	-0.910	T	0.002	T	0.047	-2.450	0.003	-8.14	-2.517	-0.865	10.987	0.047	.	.	.	0.0011	0.0115	0.0005	0.0001	0	0.0003	0.0034	0.0001	0.0009638	149	154602	rs77077255	0.0007	0.0014	0.0008	0.0006	0.0192	0.0007	0.0007	0.0180	0.0175	0.0192	0.0017	0	5.038e-05	3.755e-05	0.0065	0.0002	0.0022	0.0002	0.0070	0.0099	0.0071	0.0070	0.0238	0.0067	0.0065	0.0225	0.0220	0.0238	0	0.0040	0	0.0002	0	0.0035	0.0004	0.0063	0.0002	0.991	0.01963	T	0.35	0.17478	T	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	0.553685	0.32154	D	0.28	0.10031	N	5.64	0.00792	T	-0.13	0.08971	N	0.031	0.00770	-0.9103	0.46818	T	0.002	0.00556	T	9	0.004203528	0.00084	T	.	.	.	0.047	0.12962	.	.	0.0297737177859	0.01360	0.0032186901140745672	0.00300	.	.	0.21840646863	0.01220	T	0.016931	0.13903	T	-0.769871	0.00013	T	-0.867612	0.00765	T	0.00713906243663887	0.00082	T	0.454655	0.12977	T	0.009693638	0.00003	0.024030784	0.00418	0.009693638	0.00003	0.024030784	0.00418	-3.83	0.21253	T	.	.	0.076	0.05890	B	.	.	-2.208655	0.00063	0.001	0.26236235750595632	0.01247	0.00182	0.01064	N	AEFBI	.	.	.	-2.52806377115111	0.00013	0.0005917503	-2.57846970665042	0.00015	0.0006741267	0.881589472832716	0.25635	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.12	-8.14	0.00941	-5.503000	0.00140	-20.000000	0.00162	-1.817000	0.00605	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5193:0.3216:0.1591	10.987	0.46743	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1669.98	200	chr14	104946699	.	C	T	1669.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.48;DP=4872;ExcessHet=0.0000;FS=2.385;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.26;MQRankSum=-8.937e+00;QD=4.91;ReadPosRankSum=0.814;SOR=0.861	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:233,0:233:99:.:.:0,120,1800	20	0	1	0
chr14	104946719	104946719	A	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T8432A:p.L2811H	.	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.999	D	0.958	D	.	.	1.000	N	2.94	M	5.78	T	-0.994	T	0.008	T	0.438	1.765	11.86	3.35	1.495	2.321	10.363	0.159	0.0147631915052	.	.	0.0008	0.0089	0.0003	0.0002	0	0.0001	0.0033	0	7.68e-05	2	26028	rs186180942	0.0003	0.0013	0.0004	0.0003	0.0095	0.0003	0.0003	0.0086	0.0082	0.0095	0.0008	0	5.038e-05	1.878e-05	0.0019	5.129e-05	0.0011	5.802e-05	0.0050	0.0097	0.0048	0.0051	0.0171	0.0047	0.0045	0.0160	0.0156	0.0171	0	0.0024	0	0.0004	0	0	0.0002	0.0045	0	0.003	0.68238	D	0.19	0.28482	T	0.999	0.77913	D	0.958	0.70027	D	.	.	.	.	0.999685	0.48270	D	2.485	0.72352	M	5.78	0.00681	T	-3.55	0.68764	D	0.245	0.27673	-0.9939	0.31591	T	0.008	0.02968	T	9	0.006383121	0.00144	T	0.014763	0.35085	T	0.159	0.41286	.	.	0.32471235697	0.32085	0.013680517453780896	0.01326	.	.	0.218328133225	0.01215	T	0.133538	0.46427	T	-0.45081	0.01117	T	-0.415909	0.31544	T	0.0326952073897894	0.02420	T	0.378962	0.09121	T	0.23888221	0.46771	0.31594685	0.57578	0.23888221	0.46771	0.31594685	0.57577	-8.565	0.64858	D	.	.	0.301	0.53064	B	.	.	2.339662	0.29980	18.30	0.97582221804388269	0.34742	0.46845	0.27850	N	AEFBI	.	.	.	-0.0452927092613449	0.39813	2.353983	-0.298585359891084	0.28145	1.566963	0.0134823131675957	0.12471	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.35	3.35	0.37468	1.250000	0.32453	2.716000	0.34274	0.658000	0.54486	0.000000	0.06391	0.005000	0.19230	0.131000	0.19607	1.0:0.0:0.0:0.0	10.363	0.43186	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1099.98	200	chr14	104946719	.	A	T	1099.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.395;DP=5421;ExcessHet=0.0000;FS=9.394;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.19;MQRankSum=-1.044e+01;QD=3.43;ReadPosRankSum=-4.000e-03;SOR=1.316	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:233,0:233:99:.:.:0,120,1800	20	0	1	0
chr14	104946756	104946756	C	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G8395T:p.V2799L	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.518	P	0.226	B	.	.	1.000	N	1.79	L	5.66	T	-0.918	T	0.005	T	0.347	0.652	7.498	3.24	0.739	-0.815	9.926	0.068	0.0422251847671	.	.	3.322e-05	0.0002	0	0	0	1.504e-05	0	6.056e-05	2.59e-05	4	154602	rs751143580	1.237e-05	0.0004	9.573e-06	1.52e-05	0.0003	7.73e-06	6.38e-06	0.0001	0.0001	0.0003	0	0	0	1.883e-05	0	4.509e-06	1.667e-05	2.337e-05	0.0007	0.0054	0.0007	0.0007	0.0023	0.0006	0.0005	0.0019	0.0018	0.0023	0	6.876e-05	0	0.0009	0	0	4.612e-05	0.0005	0.0004	0.225	0.18626	T	0.313	0.19539	T	0.518	0.37483	P	0.226	0.38054	B	.	.	.	.	1	0.81001	D	1.455	0.36767	L	5.66	0.00776	T	-1.56	0.37759	N	0.136	0.13341	-0.9185	0.45756	T	0.005	0.01542	T	9	0.07035619	0.10222	T	0.042225	0.60351	D	0.068	0.19811	0.304	0.27325	0.0297737177859	0.01360	0.0056020843617427115	0.00530	.	.	0.281263887882	0.07669	T	0.021765	0.16896	T	-0.333482	0.05853	T	-0.53341	0.18948	T	0.0930000320076942	0.11569	T	0.562644	0.19782	T	0.04113719	0.06004	0.07096947	0.15143	0.04113719	0.06004	0.07096947	0.15142	-0.904	0.00899	T	.	.	0.122	0.25429	B	.	.	-0.024960	0.04112	0.973	0.92378643886379475	0.21786	0.05028	0.10811	N	AEFBI	.	.	.	-0.501978836871157	0.22015	1.172622	-0.55322393972836	0.20721	1.117648	4.22206282028075E-4	0.06935	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.14	3.24	0.36257	-0.111000	0.10778	-20.000000	0.00162	0.576000	0.29215	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.9008:0.0:0.0992	9.926	0.40663	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	81.98	200	chr14	104946756	.	C	A	81.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.700e+00;DP=5314;ExcessHet=0.0000;FS=18.877;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.65;MQRankSum=-5.695e+00;QD=0.29;ReadPosRankSum=-3.296e+00;SOR=2.232	GT:AD:DP:GQ:PL	0/0:233,0:233:99:0,120,1800	20	0	1	0
chr14	104946840	104946840	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G8311A:p.E2771K	.	.	425	1031	66	0	0	66	0.031015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.003	B	0.005	B	.	.	1.000	N	1.61	L	5.72	T	-0.908	T	0.003	T	0.055	0.664	7.558	1.0	0.031	0.201	7.453	0.053	0.00516765144614	.	.	0.0001	0.0011	0	0.0001	0	1.501e-05	0	0.0001	3.84e-05	1	26028	rs765833389	5.301e-05	0.0026	3.01e-05	7.62e-05	0.0005	4.305e-05	3.978e-05	0.0003	0.0003	0.0003	2.248e-05	0	0.0005	0	0.0005	1.804e-05	0.0003	7.087e-05	0.0003	0.0066	0.0003	0.0003	0.0012	0.0002	0.0002	0.0009	0.0008	0.0012	0	0	0	0	0	0	1.491e-05	0	0.0002	0.35	0.12305	T	0.304	0.20100	T	0.003	0.11197	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	1.395	0.35261	L	5.72	0.00726	T	-1.82	0.42763	N	0.042	0.01498	-0.9083	0.47061	T	0.003	0.00897	T	9	0.02272144	0.00575	T	0.005168	0.13156	T	0.053	0.14996	.	.	0.0138822411134	0.00435	0.01070317848971027	0.01031	.	.	0.231759011745	0.02101	T	0.021887	0.16970	T	-0.38292	0.02986	T	-0.787815	0.02225	T	0.0484263979648418	0.05219	T	0.553645	0.19140	T	0.027281942	0.01897	0.058093388	0.10674	0.027281942	0.01897	0.058093388	0.10674	-8.163	0.62175	D	.	.	0.151	0.33365	B	.	.	0.952869	0.13291	9.792	0.63652803078570641	0.07281	0.04330	0.09889	N	AEFBI	.	.	.	-1.56462695524314	0.01451	0.06330527	-1.61025239373678	0.01594	0.07229178	1.11558074033666E-4	0.05269	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	2.86	1.0	0.18999	-0.219000	0.09233	-2.557000	0.03611	-2.359000	0.00306	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7292:0.0:0.2708	7.453	0.26421	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	621.68	200	chr14	104946840	.	C	T	621.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.271;DP=5344;ExcessHet=0.3300;FS=9.545;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=57.91;MQRankSum=-8.933e+00;QD=0.51;ReadPosRankSum=-3.710e+00;SOR=1.332	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:233,0:233:99:.:.:0,120,1800	18	0	3	0
chr14	104946844	104946844	T	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A8307C:p.Q2769H	.	.	426	1042	54	0	0	54	0.0252572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.222	B	0.126	B	.	.	1.000	N	-0.69	N	5.72	T	-0.921	T	0.001	T	0.092	0.937	8.821	-2.7	-0.340	-1.247	7.447	0.008	0.00456934809247	.	0.00199681	0.0013	0.0014	8.639e-05	0.0001	0.0036	0.0017	0	0.0001	0.0001035	16	154602	rs549959692	0.0010	0.0031	0.0010	0.0009	0.0010	0.0009	0.0009	0.0009	0.0009	0.0003	6.734e-05	0.0007	0.0003	0.0049	0.0002	0.0010	0.0009	0.0001	0.0009	0.0062	0.0008	0.0010	0.0009	0.0008	0.0007	0.0008	0.0007	0.0007	0	0.0001	0.0012	0	0.0031	0	0.0009	0.0005	0	0.199	0.20456	T	0.044	0.49663	D	0.222	0.30359	B	0.126	0.32692	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	5.72	0.00726	T	-1.02	0.26843	N	0.054	0.02559	-0.9209	0.45431	T	0.001	0.00467	T	9	0.009157479	0.00207	T	0.004569	0.11283	T	0.008	0.00669	0.25	0.18757	0.0138822411134	0.00435	0.006695173993302265	0.00637	.	.	0.236160099506	0.02455	T	0.021859	0.16951	T	-0.663042	0.00060	T	-0.765724	0.02911	T	0.0259420974383474	0.01398	T	0.327667	0.06803	T	0.02251858	0.00921	0.035413582	0.02789	0.02251858	0.00921	0.035413582	0.02789	-4.563	0.31703	T	.	.	0.164	0.36234	B	.	.	-0.466991	0.01975	0.172	0.80392660186174825	0.13181	0.00383	0.01935	N	AEFBI	.	.	.	-1.48234254240428	0.01974	0.08670879	-1.54650334495513	0.02000	0.09137707	2.74653825623093E-4	0.06300	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	2.86	-2.7	0.05651	-1.316000	0.02818	-20.000000	0.00162	-4.377000	0.00031	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5322:0.2016:0.2662	7.447	0.26386	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	422.11	200	chr14	104946844	.	T	G	422.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-6.300e-01;DP=5331;ExcessHet=0.1072;FS=7.642;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.27;MQRankSum=-8.789e+00;QD=0.53;ReadPosRankSum=-3.637e+00;SOR=1.399	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:233,0:233:99:.:.:0,120,1800	19	0	2	0
chr14	104946846	104946846	G	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C8305G:p.Q2769E	.	.	423	1048	51	0	0	51	0.0237541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	0.0	B	0.0	B	.	.	1.000	N	-1.79	N	5.84	T	-0.953	T	0.001	T	0.094	-0.115	3.436	-0.215	-0.313	-1.604	6.202	0.013	0.00601287222755	.	.	0.0013	0.0014	8.639e-05	0.0001	0.0036	0.0017	0	0.0001	2.59e-05	4	154602	rs765081436	0.0010	0.0027	0.0010	0.0009	0.0010	0.0009	0.0009	0.0009	0.0009	0.0002	6.728e-05	0.0007	0.0002	0.0049	0.0002	0.0010	0.0007	9.387e-05	0.0009	0.0051	0.0008	0.0009	0.0009	0.0007	0.0007	0.0007	0.0007	0.0006	0	0.0001	0.0012	0	0.0030	0	0.0009	0.0005	0	0.83	0.02884	T	0.617	0.07518	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.115	0.04602	N	5.84	0.00647	T	0.89	0.01641	N	0.02	0.00308	-0.9529	0.40468	T	0.001	0.00255	T	9	0.009065419	0.00205	T	0.006013	0.15698	T	0.013	0.01715	.	.	0.0138822411134	0.00435	0.0016092417742788088	0.00148	.	.	0.228061407804	0.01827	T	0.016132	0.13395	T	-0.648084	0.00074	T	-0.744237	0.03715	T	0.00364170349492424	0.00039	T	0.339966	0.07337	T	0.02530059	0.01453	0.03273809	0.02056	0.02530059	0.01453	0.03273809	0.02056	-2.714	0.07421	T	.	.	0.060	0.01011	B	.	.	-0.105849	0.03606	0.709	0.30481252660818753	0.01669	0.00077	0.00530	N	AEFBI	.	.	.	-1.80290082682248	0.00538	0.02316779	-1.74440261055854	0.00955	0.04273961	1.08048917805001E-4	0.05123	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	2.86	-0.215	0.12510	0.146000	0.16000	-10.489000	0.00696	-0.266000	0.06809	0.237000	0.24716	0.000000	0.08366	0.000000	0.00833	0.0:0.5285:0.3634:0.1081	6.202	0.19793	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	369.11	200	chr14	104946846	.	G	C	369.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.181e+00;DP=5308;ExcessHet=0.1072;FS=9.601;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.35;MQRankSum=-8.540e+00;QD=0.46;ReadPosRankSum=-2.703e+00;SOR=1.451	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:233,0:233:99:.:.:0,120,1800	19	0	2	0
chr14	104946849	104946849	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G8302A:p.A2768T	.	.	422	1059	41	0	0	41	0.0189903	.	.	3409374	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.72	T	0.028	B	0.006	B	.	.	1.000	N	2.85	M	5.55	T	-0.856	T	0.004	T	0.119	1.122	9.573	-2.0	-0.878	-1.324	0.865	0.040	0.0032799704562	.	.	0.0002	0.0010	8.639e-05	0.0005	0	9.003e-05	0.0011	0.0003	0.000207	32	154602	rs781609751	0.0001	0.0012	8.323e-05	0.0001	0.0047	8.739e-05	8.224e-05	0.0033	0.0029	9.104e-05	4.479e-05	7.66e-05	0.0002	0	0.0047	6.395e-05	0.0003	0.0002	0.0002	0.0037	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0004	0	0.0001	0.0003	0.0004	0	0.0070	8.894e-05	0.0005	0.0002	0.048	0.40068	D	0.231	0.25061	T	0.028	0.19712	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	2.395	0.69210	M	5.55	0.00874	T	-0.82	0.22508	N	0.065	0.03726	-0.8556	0.51577	T	0.004	0.01400	T	9	0.026404798	0.00808	T	0.00328	0.07268	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.002754179350592718	0.00256	.	.	0.210492774844	0.00832	T	0.022204	0.17162	T	-0.324054	0.06571	T	-0.703257	0.05649	T	0.0342946946823724	0.02687	T	0.329367	0.06881	T	0.02186054	0.00812	0.049946822	0.07739	0.02186054	0.00811	0.049946822	0.07738	-7.621	0.58457	D	.	.	0.101	0.17445	B	.	.	0.282115	0.06588	3.080	0.90699426532362137	0.19950	0.01201	0.04282	N	AEFBI	.	.	.	-1.17912363358261	0.05316	0.2420568	-1.34729888941916	0.03838	0.1798289	1.51879746510354E-4	0.05650	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	2.86	-2.0	0.07024	-1.956000	0.01613	-14.507000	0.00400	-1.039000	0.01670	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3038:0.3553:0.1498:0.191	0.865	0.01125	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	53.14	200	chr14	104946849	.	C	T	53.14	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.99;DP=5324;ExcessHet=0.1072;FS=10.501;InbreedingCoeff=-0.0464;MLEAC=1;MLEAF=0.024;MQ=58.43;MQRankSum=-9.015e+00;QD=0.07;ReadPosRankSum=-2.639e+00;SOR=1.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:233,0:233:99:.:.:0,120,1800	19	0	2	0
chr14	104948100	104948100	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G7051A:p.V2351M	.	.	421	1094	7	0	0	7	0.00318907	.	.	3255254	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.997	D	.	.	1.000	N	2.785	M	5.47	T	-1.035	T	0.014	T	0.248	2.306	13.67	2.69	0.502	3.376	8.290	0.114	0.00285096630079	.	.	0.0001	0	0	0	0	3e-05	0	0.0007	9.06e-05	14	154602	rs763347153	7.322e-05	7.319e-05	4.63e-05	0.0001	0.0010	6.183e-05	5.743e-05	0.0006	0.0005	0	0	0	0	0	0.0010	2.878e-05	0.0001	0.0007	3.301e-05	3.288e-05	1.29e-05	5.408e-05	0.0006	1.265e-05	8.01e-06	0.0002	9.04e-05	0	0	0	0	0	0	0	2.942e-05	0	0.0006	0.258	0.16683	T	0.066	0.44501	T	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	1	0.08975	N	2.585	0.75554	M	5.47	0.00949	T	-1.2	0.30555	N	0.218	0.24385	-1.0348	0.18920	T	0.014	0.05465	T	9	0.052267104	0.05235	T	0.002851	0.05986	T	0.114	0.32008	0.302	0.27003	0.0482279557977	0.04254	0.004691695044407868	0.00442	.	.	0.253647685051	0.04162	T	0.070382	0.33946	T	-0.470743	0.00841	T	-0.542881	0.18014	T	0.176427513360977	0.19007	T	0.628837	0.24395	T	0.017276715	0.00260	0.038179483	0.03631	0.017276715	0.00259	0.038179483	0.03631	-7.235	0.55732	T	.	.	0.169	0.37083	B	.	.	1.322575	0.17269	13.06	0.9952701975749213	0.69591	0.15356	0.18871	N	AEFBI	.	.	.	-0.172060476729889	0.34301	1.956	-0.434579438480112	0.23990	1.311206	2.2091291054767E-4	0.05997	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.59	2.69	0.30923	1.641000	0.36812	-5.595000	0.01662	-0.241000	0.07509	0.002000	0.15269	0.000000	0.08366	0.006000	0.07323	0.0:0.6607:0.2458:0.0935	8.290	0.31115	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4878.98	299	chr14	104948100	.	C	T	4878.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.30;DP=6706;ExcessHet=0.0000;FS=0.529;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=-1.171e+00;QD=11.37;ReadPosRankSum=-1.287e+00;SOR=0.639	GT:AD:DP:GQ:PL	0/0:287,0:287:99:0,120,1800	20	0	1	0
chr14	104948130	104948130	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G7021A:p.D2341N	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.999	D	0.9	P	.	.	0.969	N	2.85	M	5.02	T	-1.055	T	0.018	T	0.126	3.688	18.74	2.16	1.642	-0.129	9.618	0.113	0.00261737278771	8.2e-05	0.000399361	5.803e-05	0.0001	8.639e-05	0	0	0	0	0.0003	6.47e-05	10	154602	rs377766612	4.722e-05	4.72e-05	5.175e-05	4.264e-05	0.0001	3.795e-05	3.477e-05	7.124e-05	5.482e-05	8.978e-05	4.473e-05	0	0	0	0	4.587e-05	3.314e-05	0.0001	4.631e-05	4.606e-05	6.471e-05	2.708e-05	0.0002	2.122e-05	1.535e-05	1.975e-05	1.127e-05	2.444e-05	0	0	0	0	0	0	5.894e-05	0.0005	0.0002	0.023	0.48186	D	0.036	0.52060	D	0.999	0.77913	D	0.9	0.63913	P	.	.	.	.	0.96895	0.38695	D	2.475	0.71894	M	5.02	0.01297	T	-2.54	0.55025	D	0.13	0.12484	-1.0550	0.13040	T	0.018	0.07612	T	9	0.08588344	0.14543	T	0.002617	0.05320	T	0.113	0.31778	.	.	0.0482279557977	0.04254	0.0022786517595402215	0.00210	.	.	0.201100111008	0.00490	T	0.038856	0.24988	T	-0.47436	0.00799	T	-0.627013	0.10642	T	0.383171558380127	0.28304	T	0.428957	0.11607	T	0.0407785	0.05886	0.048385974	0.07176	0.0407785	0.05886	0.048385974	0.07175	-7.064	0.54500	T	.	.	0.090	0.12512	B	.	.	1.463192	0.18861	13.96	0.99646569434193055	0.77005	0.05010	0.10788	N	AEFBI	.	.	.	-0.0822196807917966	0.38173	2.231675	-0.353125317906009	0.26412	1.458722	0.00492841025618532	0.10764	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.44	2.16	0.26663	0.799000	0.26688	-4.131000	0.02325	-0.246000	0.07238	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.8382:0.0:0.1618	9.618	0.38868	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	5615.98	299	chr14	104948130	.	C	T	5615.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.72;DP=6602;ExcessHet=0.0000;FS=0.517;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=-1.502e+00;SOR=0.724	GT:AD:DP:GQ:PL	0/0:287,0:287:99:0,120,1800	20	0	1	0
chr14	104948694	104948694	C	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G6457C:p.G2153R	.	.	425	1085	12	0	0	12	0.00549954	.	.	2807450	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.38	T	1.0	D	1.0	D	.	.	1.000	N	2.805	M	4.51	T	-1.061	T	0.021	T	0.18	2.577	14.58	3.48	1.918	1.075	11.491	0.144	.	0.0074	0.00319489	0.0065	0.0014	0.0059	0	0.0028	0.0099	0.0111	0.0010	0.0067593	1045	154602	rs10145300	0.0087	0.0087	0.0088	0.0085	0.0102	0.0085	0.0085	0.0099	0.0098	0.0017	0.0058	0.0124	2.52e-05	0.0030	0.0102	0.0100	0.0090	0.0011	0.0061	0.0061	0.0065	0.0057	0.0096	0.0058	0.0057	0.0090	0.0088	0.0020	0.0055	0.0048	0.0130	0	0.0032	0.0207	0.0096	0.0072	0.0015	0.007	0.59928	D	0.008	0.67890	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999999	0.58761	D	2.14	0.59869	M	4.51	0.02015	T	-2.85	0.60029	D	0.322	0.36254	-1.0609	0.11532	T	0.021	0.08870	T	9	0.008504093	0.00193	T	.	.	.	0.144	0.38394	.	.	0.28722502521	0.28325	0.007948145334980826	0.00759	.	.	0.217065513134	0.01147	T	0.093413	0.39207	T	-0.568035	0.00227	T	-0.579325	0.14605	T	0.0239606531841052	0.01140	T	0.80292	0.44963	T	0.085326076	0.19787	0.15566954	0.36480	0.085326076	0.19786	0.15566954	0.36479	-8.201	0.62432	D	.	.	0.443	0.61852	A	.	.	2.012715	0.25578	16.81	0.99633417663679735	0.76203	0.08607	0.14513	N	AEFBI	.	.	.	-0.0376549351751105	0.40155	2.379959	-0.279942143447294	0.28759	1.606025	6.77434916025151E-4	0.07599	0.706548	0.73137	0	0.55458	0.17659	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.48	3.48	0.38946	0.021000	0.13381	-1.048000	0.06492	0.429000	0.20894	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.8158:0.1842:0.0	11.491	0.49629	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	4550.98	203	chr14	104948694	.	C	G	4550.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.180e-01;DP=5255;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.15;MQRankSum=-7.590e-01;QD=13.83;ReadPosRankSum=-7.490e-01;SOR=0.703	GT:AD:DP:GQ:PL	0/0:280,0:280:99:0,120,1800	20	0	1	0
chr14	104948786	104948786	A	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T6365C:p.L2122P	.	.	424	1093	5	0	0	5	0.00228206	.	.	3255153	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.4	T	0.004	B	0.004	B	.	.	1.000	N	-2.1	N	5.13	T	-0.928	T	0.002	T	0.099	0.158	4.850	2.06	0.790	-0.936	8.651	0.024	0.00974985759523	.	.	0.0001	0.0002	0.0004	0.0001	0	6.001e-05	0	0.0001	3.84e-05	1	26028	rs757022688	7.529e-05	0.0001	7.9e-05	7.155e-05	0.0017	6.386e-05	5.942e-05	0.0009	0.0007	0.0002	0.0004	0	5.046e-05	0	0.0017	5.308e-05	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	0.0003	8.339e-05	6.866e-05	9.085e-05	5.459e-05	0.0002	0	0.0003	0	0.0002	0	0	0.0001	0.0005	0	0.147	0.24955	T	0.267	0.22561	T	0.004	0.12183	B	0.004	0.10090	B	.	.	.	.	0.999997	0.20372	N	-1.78	0.00307	N	5.13	0.01211	T	3.45	0.00091	N	0.113	0.10056	-0.9276	0.44487	T	0.002	0.00497	T	9	0.026194364	0.00792	T	0.00975	0.25449	T	0.024	0.04979	.	.	0.0666544352282	0.05500	0.002384248051804869	0.00221	.	.	0.206782832742	0.00682	T	0.017734	0.14416	T	-0.365692	0.03818	T	-0.763067	0.03003	T	0.00742173427715898	0.00086	T	0.19608	0.02165	T	0.027466143	0.01942	0.06831685	0.14250	0.027466143	0.01942	0.06831685	0.14250	0.789	0.00162	T	.	.	0.044	0.00035	B	.	.	-0.585526	0.01611	0.110	0.18171188115951445	0.00560	0.00181	0.01060	N	AEFBI	.	.	.	-1.46015034166472	0.02138	0.09409077	-1.35260762369119	0.03775	0.176801	1.91956662957708E-4	0.05898	0.706548	0.73137	0	0.55458	0.17659	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.26	2.06	0.25932	-0.665000	0.05386	-2.028000	0.04322	-2.154000	0.00372	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2712:0.0:0.7288:0.0	8.651	0.33195	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1686.98	203	chr14	104948786	.	A	G	1686.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.710e-01;DP=5157;ExcessHet=0.0000;FS=8.286;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.45;MQRankSum=-9.070e+00;QD=8.35;ReadPosRankSum=0.521;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:280,0:280:99:.:.:0,120,1800	20	0	1	0
chr14	104948811	104948811	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G6340A:p.A2114T	.	.	428	1088	6	0	0	6	0.00274977	.	.	2770869	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.55	T	0.996	D	0.993	D	.	.	1.000	N	1.59	L	5.55	T	-0.924	T	0.007	T	0.043	2.409	14.02	-0.488	-0.346	-0.046	4.925	0.028	0.00178641489804	.	.	6.634e-05	0.0001	8.64e-05	0	0	7.502e-05	0	6.056e-05	3.84e-05	1	26028	rs757140039	8.144e-05	0.0001	7.081e-05	9.217e-05	0.0019	6.938e-05	6.489e-05	0.0011	0.0008	0.0002	0.0002	3.827e-05	2.522e-05	0	0.0019	5.397e-05	0.0002	0.0001	0.0001	0.0005	0.0002	0.0001	0.0009	9.846e-05	8.345e-05	0.0006	0.0004	2.463e-05	0	0.0009	0	0.0002	0	0	5.901e-05	0.0010	0	0.311	0.13971	T	0.276	0.21947	T	0.996	0.68779	D	0.993	0.81110	D	.	.	.	.	1	0.08975	N	0.925	0.23481	L	5.55	0.00874	T	-0.76	0.21215	N	0.026	0.00527	-0.9237	0.45041	T	0.007	0.02360	T	9	0.083375186	0.13863	T	0.001786	0.03037	T	0.028	0.06331	.	.	0.0297737177859	0.01360	0.0027179339878852906	0.00252	.	.	0.2029735744	0.00548	T	0.020202	0.15948	T	-0.59544	0.00155	T	-0.808372	0.01702	T	0.0172800999134779	0.00469	T	0.378562	0.09103	T	0.016556041	0.00205	0.038506757	0.03735	0.016556041	0.00205	0.038506757	0.03735	-4.394	0.29475	T	.	.	0.084	0.09627	B	.	.	0.017179	0.04404	1.144	0.99533899890496902	0.70025	0.03761	0.09070	N	AEFBI	.	.	.	-0.489376226572196	0.22428	1.197527	-0.745695451544033	0.15828	0.8343838	9.61606102438991E-5	0.04910	0.706548	0.73137	0	0.55458	0.17659	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.63	-0.488	0.11455	-1.069000	0.03555	-11.563000	0.00594	-0.978000	0.01909	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4439:0.2955:0.2607	4.925	0.13243	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4807.11	203	chr14	104948811	.	C	T	4807.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.42;DP=5134;ExcessHet=0.1072;FS=6.556;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=57.82;MQRankSum=-4.614e+00;QD=11.00;ReadPosRankSum=3.56;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:280,0:280:99:.:.:0,120,1800	19	0	2	0
chr14	104949281	104949281	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C5870T:p.P1957L	.	.	842	668	11	1	0	13	0.00963677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.029	B	0.009	B	.	.	1.000	N	2.37	M	4.88	T	-0.993	T	0.009	T	0.07	0.929	8.784	0.194	-0.257	0.787	7.173	0.081	.	.	0.0670927	0.0002	0.0004	0.0001	0.0001	0	0.0002	0	8.326e-05	0.0033247	514	154602	rs561933027	7.826e-05	0.0005	7.26e-05	8.398e-05	0.0011	6.392e-05	5.83e-05	0.0004	0.0003	0.0005	0.0001	0	0.0001	0	0.0011	1.443e-05	0.0001	0.0005	7.749e-05	0.0011	5.681e-05	9.914e-05	0.0001	3.825e-05	2.801e-05	5.417e-05	3.537e-05	0.0001	0	0	0	0	0	0	5.148e-05	0.0007	0	0.007	0.59928	D	0.006	0.70582	D	0.029	0.19866	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	1.535	0.38868	L	4.88	0.01439	T	-6.02	0.89684	D	0.08	0.05542	-0.9927	0.31906	T	0.009	0.03227	T	9	0.0025387108	0.00038	T	.	.	.	0.081	0.23632	.	.	0.0611884634855	0.05136	0.03771500750535149	0.03717	.	.	0.19974796474	0.00449	T	0.050646	0.28655	T	-0.668646	0.00056	T	-0.740025	0.03889	T	0.0220577902218616	0.00915	T	0.49705	0.15447	T	0.05052777	0.09141	0.0893155	0.20880	0.05052777	0.09141	0.0893155	0.20879	-6.587	0.50953	T	.	.	0.092	0.13737	B	.	.	1.220310	0.16140	12.34	0.43822318891268208	0.03326	0.12080	0.17047	N	AEFBI	.	.	.	-1.62279424807614	0.01155	0.05018956	-1.68153671317487	0.01221	0.05500561	9.65762816530308E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	4.25	0.194	0.14424	0.826000	0.27061	-2.857000	0.03290	-1.837000	0.00584	0.010000	0.18352	0.000000	0.08366	0.000000	0.00833	0.2283:0.0:0.6512:0.1204	7.173	0.24907	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	372.54	1829	chr14	104949281	.	G	A	372.54	.	AC=2;AF=0.077;AN=26;BaseQRankSum=-2.823e+00;DP=1829;ExcessHet=0.1773;FS=29.490;InbreedingCoeff=0.1289;MLEAC=3;MLEAF=0.115;MQ=42.91;MQRankSum=1.22;QD=7.30;ReadPosRankSum=3.71;SOR=0.006	GT:AD:DP:GQ:PGT:PID:PL:PS	./.	11	0	2	8
chr14	104949302	104949302	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G5849A:p.G1950D	.	.	.	.	.	.	.	.	.	.	.	3255090	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.56	T	0.998	D	0.897	P	.	.	1.000	N	2.28	M	4.13	T	-1.075	T	0.018	T	0.225	0.528	6.858	-6.01	-1.011	0.619	5.067	0.079	0.00204880542899	.	.	2.331e-05	0	0	0	0	2.43e-05	0	8.322e-05	3.84e-05	1	26028	rs781128485	7.506e-05	0.0004	3.524e-05	0.0001	0.0007	6.083e-05	5.59e-05	0.0005	0.0005	0.0002	0	0	7.628e-05	0	0	1.442e-05	0.0002	0.0007	0.0001	0.0004	0.0001	7.772e-05	0.0003	5.769e-05	4.466e-05	0.0001	9.43e-05	0.0002	0	0	0	0	0	0	2.51e-05	0	0.0003	0.087	0.32453	T	0.098	0.39040	T	0.998	0.73220	D	0.897	0.63631	P	.	.	.	.	1	0.08975	N	2.295	0.65404	M	4.13	0.02865	T	-1.2	0.30555	N	0.139	0.13769	-1.0751	0.08328	T	0.018	0.07423	T	9	0.14253703	0.27071	T	0.002049	0.03748	T	0.079	0.23065	0.338	0.32816	0.0297737177859	0.01360	0.010330589381271002	0.00994	.	.	0.217171877623	0.01153	T	0.022347	0.17246	T	-0.299869	0.08672	T	-0.668518	0.07704	T	0.244044899940491	0.22604	T	0.274073	0.04660	T	0.04568146	0.07518	0.05429044	0.09308	0.04568146	0.07518	0.05429044	0.09308	-8.36	0.63498	D	.	.	0.173	0.38025	B	.	.	0.536375	0.09050	5.833	0.71242507928752474	0.09563	0.02673	0.07298	N	AEFBI	.	.	.	-0.831010570298139	0.12523	0.610909	-1.15739752751733	0.06635	0.3200831	0.0231572066422917	0.13486	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.55	-6.01	0.02015	-1.814000	0.01817	-10.848000	0.00659	-1.994000	0.00453	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2469:0.2332:0.4415:0.0783	5.067	0.13923	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	244.2	7	chr14	104949302	.	C	T	244.2	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.78;DP=1866;ExcessHet=0.0000;FS=11.139;InbreedingCoeff=-0.0356;MLEAC=1;MLEAF=0.024;MQ=36.52;MQRankSum=0.010;QD=16.28;ReadPosRankSum=-3.782e+00;SOR=4.174	GT:AD:DP:GQ:PL	0/0:4,0:4:12:0,12,158	20	0	1	0
chr14	104949306	104949306	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A5845G:p.T1949A	.	.	890	610	19	3	0	25	0.0200803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	0.0	B	0.0	B	.	.	1.000	N	-1.425	N	5.92	T	-0.974	T	0.001	T	0.022	-0.352	2.336	-3.46	-2.072	-0.254	6.357	0.016	.	.	0.165136	0.0004	0.0006	0	0.0001	0	0.0003	0	0.0010	0.0069598	1076	154602	rs201406401	0.0004	0.0031	0.0003	0.0005	0.0018	0.0004	0.0004	0.0015	0.0014	0.0014	0.0003	0.0006	0.0005	2.672e-05	0.0003	0.0002	0.0006	0.0018	0.0005	0.0027	0.0005	0.0005	0.0010	0.0004	0.0003	0.0007	0.0006	0.0010	0	0.0002	0	0	0	0	0.0003	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.64	0.02118	N	5.92	0.00621	T	0.87	0.01688	N	0.022	0.00372	-0.9740	0.36344	T	0.001	0.00287	T	9	0.0027029812	0.00042	T	.	.	.	0.016	0.02506	.	.	0.0138822411134	0.00435	0.00708365487551219	0.00675	.	.	0.196304097772	0.00357	T	0.015964	0.13288	T	-0.459638	0.00988	T	-0.898015	0.00517	T	0.000721562574598981	0.00007	T	0.190681	0.02037	T	0.02292779	0.00991	0.037992395	0.03572	0.02292779	0.00991	0.037992395	0.03571	0.421	0.00230	T	.	.	0.056	0.00470	B	.	.	-1.055756	0.00696	0.020	0.36831802887168441	0.02392	0.00115	0.00727	N	AEFBI	.	.	.	-2.08686289980388	0.00137	0.005858008	-2.06374372785095	0.00223	0.009847368	5.71204682153802E-4	0.07363	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.87	-3.46	0.04465	-0.796000	0.04680	-15.353000	0.00361	-0.939000	0.02101	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3694:0.2156:0.415	6.357	0.20613	982	0.03397	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.1923	1041.93	10	chr14	104949306	.	T	C	1041.93	.	AC=5;AF=0.192;AN=26;BaseQRankSum=-2.730e-01;DP=1943;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5554;MLEAC=7;MLEAF=0.269;MQ=56.75;MQRankSum=-1.450e+01;QD=4.53;ReadPosRankSum=0.363;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:4,0:4:0:.:.:0,0,0	10	2	1	8
chr14	104949318	104949318	G	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C5833G:p.L1945V	.	.	897	624	1	0	0	1	0.000800641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.885	P	0.58	P	.	.	1.000	N	1.025	L	5.63	T	-1.013	T	0.003	T	0.103	0.024	4.137	-7.75	-1.744	-3.668	10.794	0.106	.	.	0.117612	0.0002	0.0004	0.0001	0	0	0.0002	0	0.0003	0.0049288	762	154602	rs11850885	0.0003	0.0005	0.0003	0.0003	0.0005	0.0003	0.0002	0.0004	0.0003	6.32e-05	8.79e-05	0.0017	0	2.892e-05	0	0.0003	0.0001	0.0005	0.0003	0.0003	0.0003	0.0002	0.0009	0.0002	0.0001	0.0002	0.0002	0.0004	0	0.0001	0	0	0	0	0.0002	0	0.0009	0.223	0.18757	T	0.812	0.03921	T	0.885	0.48692	P	0.58	0.50189	P	.	.	.	.	1	0.08975	N	0.655	0.16177	N	5.63	0.00800	T	-0.52	0.16187	N	0.07	0.04307	-1.0129	0.26007	T	0.003	0.00994	T	9	0.0019224286	0.00026	T	.	.	.	0.106	0.30130	.	.	0.0138822411134	0.00435	0.0038472276690488813	0.00360	.	.	0.181934326887	0.00113	T	0.021388	0.16665	T	-0.36457	0.03878	T	-0.761456	0.03060	T	0.0235637607314751	0.01091	T	0.368563	0.08641	T	0.033152208	0.03479	0.046905622	0.06640	0.033152208	0.03479	0.046905622	0.06640	-5.32	0.40140	T	.	.	0.079	0.07507	B	.	.	-0.271608	0.02745	0.366	0.38018040820387061	0.02540	0.00395	0.01981	N	AEFBI	.	.	.	-1.35997308706623	0.03023	0.1343823	-1.60646868761233	0.01617	0.07334436	0.528482519546675	0.21156	0.562547	0.31514	0	0.573888	0.26702	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	3.87	-7.75	0.01099	-1.981000	0.01580	-20.000000	0.00162	-0.167000	0.11441	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5376:0.1224:0.34	10.794	0.45655	982	0.03397	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.04167	429.68	28	chr14	104949318	.	G	C	429.68	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-1.491e+00;DP=2299;ExcessHet=0.0000;FS=23.397;InbreedingCoeff=0.3596;MLEAC=2;MLEAF=0.083;MQ=58.05;MQRankSum=-9.432e+00;QD=1.88;ReadPosRankSum=-5.587e+00;SOR=2.774	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:11,0:11:0:.:.:0,0,0	11	0	1	9
chr14	104949324	104949324	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G5827A:p.A1943T	.	.	455	1049	14	4	0	22	0.0103774	.	.	2807471	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.57	T	0.999	D	0.958	D	.	.	1.000	N	1.96	M	5.55	T	-0.931	T	0.008	T	0.088	2.469	14.22	0.935	0.149	0.432	5.083	0.021	.	.	0.0163738	0.0002	0.0009	0	0.0002	0	0.0001	0	0.0002	0.0005498	85	154602	rs200010377	5.587e-05	0.0005	5.654e-05	5.519e-05	0.0006	4.516e-05	4.146e-05	0.0004	0.0004	0.0006	0.0002	0	5.066e-05	0	0.0002	1.882e-05	0.0002	0.0001	0.0002	0.0008	0.0002	0.0003	0.0005	0.0002	0.0001	0.0004	0.0003	0.0005	0	9.124e-05	0	0.0002	0	0	4.935e-05	0.0007	0	0.34	0.12714	T	0.41	0.14544	T	0.999	0.77913	D	0.958	0.70027	D	.	.	.	.	1	0.08975	N	1.04	0.26193	L	5.55	0.00874	T	-1.07	0.27876	N	0.079	0.05414	-0.9307	0.44036	T	0.008	0.02720	T	9	0.0046064258	0.00096	T	.	.	.	0.021	0.04004	.	.	0.0401082797425	0.02173	0.00525549496637017	0.00496	.	.	0.213303595781	0.00959	T	0.020106	0.15893	T	-0.567867	0.00228	T	-0.755918	0.03260	T	0.0209839604794979	0.00799	T	0.377062	0.09013	T	0.015034415	0.00119	0.036937363	0.03242	0.015034415	0.00119	0.036937363	0.03241	-6.702	0.51825	T	.	.	0.077	0.06479	B	.	.	0.220959	0.06035	2.475	0.9947742150937795	0.66687	0.01841	0.05704	N	AEFBI	.	.	.	-0.425225448838182	0.24588	1.328673	-0.675545245549276	0.17572	0.9350048	1.65893175846788E-4	0.05721	0.706548	0.73137	0	0.573888	0.26702	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.87	0.935	0.18608	-1.254000	0.02984	-8.576000	0.00947	-0.944000	0.02069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1662:0.6467:0.0:0.1871	5.083	0.14002	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	616.66	42	chr14	104949324	.	C	T	616.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.00;DP=2344;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6392;MLEAC=3;MLEAF=0.071;MQ=46.39;MQRankSum=0.112;QD=30.83;ReadPosRankSum=0.00;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:16,0:16:48:.:.:0,48,613	19	1	1	0
chr14	104949329	104949329	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C5822T:p.P1941L	.	.	895	625	2	0	0	2	0.00159744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	1.0	D	0.999	D	.	.	1.000	N	3	M	4.49	T	-1.092	T	0.036	T	0.36	2.821	15.40	3.87	1.720	-1.423	14.471	0.148	.	.	0.205671	0.0030	0.0014	0.0012	0.0001	0.0023	0.0046	0.0123	0.0030	0.0469494	1222	26028	rs150446570	0.0005	0.0009	0.0005	0.0005	0.0014	0.0005	0.0005	0.0006	0.0005	0.0001	0	0.0030	2.638e-05	0.0002	0.0014	0.0006	0.0003	0.0007	0.0007	0.0060	0.0006	0.0008	0.0022	0.0005	0.0005	0.0008	0.0005	0.0007	0.0030	0.0006	0	0.0002	0.0002	0	0.0007	0	0.0022	0.006	0.61437	D	0.007	0.69154	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	2.91	0.84121	M	4.49	0.02049	T	-6.66	0.92302	D	0.091	0.06990	-1.0923	0.05159	T	0.036	0.15640	T	9	0.0021820068	0.00031	T	.	.	.	0.148	0.39182	.	.	.	.	0.021720322794149503	0.02124	.	.	0.238025203347	0.02615	T	0.054616	0.29774	T	-0.135836	0.30554	T	-0.432895	0.29606	T	0.100482986758683	0.12411	T	0.566943	0.20077	T	0.07432288	0.16670	0.12371494	0.29830	0.07432288	0.16669	0.12371494	0.29829	-6.184	0.47793	T	.	.	0.098	0.16275	B	.	.	1.954304	0.24822	16.54	0.9936398211619496	0.61155	0.09297	0.15081	N	AEFBI	.	.	.	0.03374022969818	0.43395	2.633305	-0.227398894291626	0.30559	1.721627	0.0881580819466753	0.16053	0.706548	0.73137	0	0.573888	0.26702	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.87	3.87	0.43823	1.402000	0.34209	1.122000	0.24252	-0.184000	0.09925	0.018000	0.19461	0.001000	0.17328	0.001000	0.02609	0.0:0.0:1.0:0.0	14.471	0.67093	982	0.03397	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.05556	927.8	65	chr14	104949329	.	G	A	927.8	.	AC=1;AF=0.056;AN=18;BaseQRankSum=3.40;DP=2674;ExcessHet=0.0000;FS=15.010;InbreedingCoeff=0.3017;MLEAC=2;MLEAF=0.111;MQ=57.71;MQRankSum=-9.128e+00;QD=3.91;ReadPosRankSum=-5.688e+00;SOR=1.784	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:30,0:30:0:.:.:0,0,0	8	0	1	12
chr14	104949354	104949354	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A5797G:p.T1933A	.	.	449	1071	2	0	0	2	0.000932836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	0.012	B	0.034	B	.	.	1.000	N	0.48	N	4.11	T	-0.895	T	0.005	T	0.215	0.077	4.415	1.35	0.370	0.346	3.059	0.026	0.00530944409628	.	.	0.0003	0.0019	0.0003	0.0003	0	6.254e-05	0	0.0004	0.000304	47	154602	rs199921891	5.22e-05	0.0003	5.404e-05	5.035e-05	0.0008	4.265e-05	3.89e-05	0.0005	0.0004	0.0008	6.982e-05	0	5.047e-05	1.941e-05	0	1.371e-05	0.0002	0.0002	9.433e-05	0.0005	0.0001	4.859e-05	0.0002	5.419e-05	4.261e-05	8.75e-05	6.174e-05	0.0002	0	0	0	0	0	0	7.261e-05	0.0006	0	0.779	0.03298	T	1.0	0.01155	T	0.012	0.16265	B	0.034	0.22546	B	.	.	.	.	1	0.20482	N	0.66	0.16226	N	4.11	0.02916	T	-0.62	0.18248	N	0.154	0.15888	-0.8953	0.48455	T	0.005	0.01725	T	9	0.013001382	0.00277	T	0.005309	0.13587	T	0.026	0.05648	.	.	0.0138822411134	0.00435	0.00816948717190958	0.00781	.	.	0.236769318581	0.02507	T	0.016676	0.13737	T	-0.290814	0.09555	T	-0.655511	0.08573	T	0.00312814630424437	0.00033	T	0.418758	0.11073	T	0.015926229	0.00166	0.02038706	0.00133	0.015926229	0.00165	0.02038706	0.00133	-3.04	0.10618	T	.	.	0.096	0.15160	B	.	.	0.365243	0.07376	4.000	0.55594911356506382	0.05375	0.01237	0.04368	N	AEFBI	.	.	.	-1.08201176734525	0.06975	0.322639	-1.06478520896596	0.08402	0.4129391	1.42626948549438E-4	0.05573	0.706548	0.73137	0	0.573888	0.26702	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.87	1.35	0.21078	-0.308000	0.08196	-20.000000	0.00162	0.607000	0.46521	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.2131:0.2467:0.5403	3.059	0.05821	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	170.1	65	chr14	104949354	.	T	C	170.1	.	AC=2;AF=0.048;AN=42;DP=2709;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.9979;MLEAC=2;MLEAF=0.048;MQ=33.71;QD=21.26;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1260	20	1	0	0
chr14	104949437	104949437	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G5714A:p.R1905K	.	.	443	1064	15	0	0	15	0.00699953	.	.	2807483	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.019	B	0.016	B	.	.	1.000	N	-2.785	N	5.56	T	-0.944	T	0.001	T	0.074	-0.743	0.838	2.57	0.345	0.533	5.046	0.072	.	.	0.00519169	0.0027	0.0039	0.0013	0.0013	0.0121	0.0015	0.0068	0.0049	0.0023868	369	154602	rs201724743	0.0015	0.0018	0.0014	0.0016	0.0045	0.0014	0.0014	0.0041	0.0040	0.0039	0.0011	0.0024	0.0007	0.0136	0.0019	0.0006	0.0022	0.0045	0.0033	0.0048	0.0029	0.0037	0.0080	0.0030	0.0029	0.0059	0.0052	0.0049	0	0.0012	0.0024	0.0019	0.0141	0	0.0011	0.0010	0.0080	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	-2.425	0.00069	N	5.56	0.00864	T	0.9	0.01618	N	0.055	0.02658	-0.9435	0.42057	T	0.001	0.00222	T	9	0.0056378245	0.00125	T	.	.	.	0.072	0.21020	.	.	0.0138822411134	0.00435	0.013107380770452471	0.01268	.	.	0.247352719307	0.03494	T	0.016235	0.13458	T	-0.692671	0.00040	T	-0.766935	0.02870	T	0.00296917531338819	0.00031	T	0.356864	0.08118	T	0.022871908	0.00981	0.038770977	0.03821	0.022871908	0.00981	0.038770977	0.03820	2.446	0.00035	T	.	.	0.056	0.00505	B	.	.	-0.176059	0.03215	0.535	0.41923522000302094	0.03056	0.00269	0.01464	N	AEFBI	.	.	.	-1.69253864397875	0.00869	0.03758364	-1.54671633278708	0.01998	0.0913044	2.19621052287939E-4	0.05997	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	3.72	2.57	0.29928	0.265000	0.18282	-4.016000	0.02392	-0.164000	0.11507	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.1777:0.1542:0.6681	5.046	0.13823	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025	647.33	323	chr14	104949437	.	C	T	647.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=4.38;DP=6004;ExcessHet=0.0000;FS=23.024;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=57.33;MQRankSum=-1.188e+01;QD=1.30;ReadPosRankSum=-7.430e+00;SOR=3.012	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:143,0:143:99:.:.:0,120,1800	19	0	1	1
chr14	104949837	104949837	A	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T5314A:p.C1772S	.	.	437	1082	3	0	0	3	0.0013844	.	.	2807502	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.77	T	0.0	B	0.0	B	.	.	1.000	N	-2.42	N	5.83	T	-0.947	T	0.000	T	0.032	-0.269	2.711	-6.71	-1.675	.	2.866	0.008	.	0.0073	0.013778	0.0081	0.0054	0.0035	0.0155	0.0076	0.0085	0.0125	0.0075	0.0078524	1214	154602	rs181708085	0.0089	0.0090	0.0088	0.0090	0.0094	0.0088	0.0087	0.0089	0.0089	0.0039	0.0045	0.0105	0.0094	0.0101	0.0024	0.0091	0.0096	0.0094	0.0095	0.0099	0.0095	0.0095	0.0185	0.0091	0.0089	0.0152	0.0140	0.0057	0.0023	0.0091	0.0139	0.0175	0.0082	0	0.0108	0.0098	0.0185	0.887	0.02501	T	0.981	0.02417	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.095	0.00157	N	5.83	0.00652	T	2.46	0.00245	N	0.019	0.00279	-0.9469	0.41498	T	0.000	0.00114	T	9	0.005264044	0.00115	T	.	.	.	0.008	0.00669	0.361	0.36548	0.0138822411134	0.00435	0.00398155033920399	0.00373	.	.	0.211249038577	0.00865	T	0.016175	0.13421	T	-0.758433	0.00015	T	-0.850536	0.00953	T	0.00275804864075437	0.00029	T	0.292471	0.05369	T	0.032542963	0.03299	0.06527708	0.13209	0.032542963	0.03299	0.06527708	0.13208	3.797	0.00010	T	.	.	0.053	0.00269	B	.	.	-1.047148	0.00706	0.021	0.36982589273997241	0.02410	0.00227	0.01275	N	AEFBI	.	.	.	-1.95574968815982	0.00263	0.0112743	-1.92334880181459	0.00440	0.01946236	0.0155192677738775	0.12722	0.67177	0.52595	0	0.588015	0.36545	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	4.44	-6.71	0.01597	-0.622000	0.05649	-7.277000	0.01191	-0.191000	0.09375	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1198:0.3233:0.3625:0.1945	2.866	0.05257	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	9032.33	315	chr14	104949837	.	A	T	9032.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.180e-01;DP=6115;ExcessHet=0.0000;FS=3.475;InbreedingCoeff=0.3000;MLEAC=1;MLEAF=0.025;MQ=59.39;MQRankSum=-9.157e+00;QD=12.53;ReadPosRankSum=2.06;SOR=0.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:148,0:148:99:.:.:0,120,1800	19	0	1	1
chr14	104949932	104949932	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A5219G:p.K1740R	.	.	423	1083	16	0	0	16	0.00733272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.145	B	0.099	B	.	.	0.876	N	2.42	M	4.62	T	-0.951	T	0.005	T	0.089	2.672	14.89	3.49	0.652	1.982	10.028	0.074	.	0.0058	0.00958466	0.0027	0.0210	0.0021	0.0003	0.0002	0.0006	0.0011	0.0029	0.0024838	384	154602	rs2582510	0.0012	0.0015	0.0013	0.0012	0.0227	0.0012	0.0012	0.0214	0.0209	0.0227	0.0026	0.0003	0.0003	0.0003	0.0059	0.0004	0.0031	0.0029	0.0070	0.0083	0.0070	0.0071	0.0231	0.0067	0.0065	0.0218	0.0213	0.0231	0	0.0035	0	0.0006	0.0002	0.0140	0.0006	0.0066	0.0048	0.066	0.36113	T	0.397	0.15157	T	0.145	0.27759	B	0.099	0.30579	B	.	.	.	.	0.876057	0.35656	D	1.415	0.35607	L	4.62	0.01834	T	-0.93	0.24898	N	0.155	0.16028	-0.9513	0.40747	T	0.005	0.01688	T	9	0.005302429	0.00116	T	.	.	.	0.074	0.21613	.	.	0.0297737177859	0.01360	0.0032825050877775376	0.00306	.	.	0.259737849236	0.04860	T	0.020974	0.16414	T	-0.650377	0.00072	T	-0.690078	0.06384	T	0.00762613712151527	0.00089	T	0.614838	0.23473	T	0.044072565	0.06981	0.04836154	0.07165	0.044072565	0.06980	0.04836154	0.07165	-7.415	0.57010	T	.	.	0.115	0.22861	B	.	.	0.858559	0.12310	8.850	0.99549741325883934	0.71086	0.36930	0.25646	N	AEFBI	.	.	.	-0.76463256973233	0.14239	0.7076688	-0.803957282187929	0.14400	0.7521947	4.75628797503205E-4	0.07095	0.67177	0.52595	0	0.588015	0.36545	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	4.65	3.49	0.39065	0.968000	0.28955	-4.566000	0.02092	-0.987000	0.01865	0.137000	0.23458	0.000000	0.08366	0.000000	0.00833	0.0:0.0819:0.0:0.9181	10.028	0.41258	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4073.98	299	chr14	104949932	.	T	C	4073.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.161e+00;DP=6606;ExcessHet=0.0000;FS=0.538;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.85;MQRankSum=-4.161e+00;QD=8.76;ReadPosRankSum=-1.573e+00;SOR=0.740	GT:AD:DP:GQ:PL	0/0:151,0:151:99:0,120,1800	20	0	1	0
chr14	104950286	104950286	A	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T4865A:p.V1622E	.	.	431	1089	2	0	0	2	0.000917431	.	.	2349045	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.198	B	0.237	B	.	.	1.000	N	3.085	M	4.57	T	-0.961	T	0.014	T	0.462	2.502	14.33	-2.08	-0.834	0.091	0.943	0.092	0.00516632455293	.	.	0.0003	0	0	0	0	4.577e-05	0	0.0023	0.0002652	41	154602	rs752913697	0.0002	0.0002	0.0001	0.0002	0.0024	0.0002	0.0001	0.0021	0.0020	9.159e-05	0	0	0	0.0001	0.0002	2.918e-05	1.681e-05	0.0024	0.0001	0.0001	6.703e-05	0.0002	0.0026	9.081e-05	7.594e-05	0.0015	0.0012	2.58e-05	0	6.969e-05	0	0	0.0004	0	3.032e-05	0	0.0026	0.08	0.33585	T	0.171	0.30339	T	0.198	0.29589	B	0.237	0.38508	B	.	.	.	.	1	0.08975	N	2.675	0.78361	M	4.57	0.01917	T	-2.6	0.55983	D	0.322	0.36254	-0.9608	0.39031	T	0.014	0.05705	T	9	0.011078447	0.00244	T	0.005166	0.13125	T	0.092	0.26621	0.319	0.29741	0.130388298395	0.12655	0.010509557745156156	0.01011	.	.	0.230354294181	0.01994	T	0.027251	0.19999	T	-0.230557	0.16574	T	-0.461298	0.26457	T	0.1025394936018	0.12634	T	0.361264	0.08331	T	0.21961868	0.44497	0.15033834	0.35459	0.21961868	0.44497	0.15033834	0.35458	-8.897	0.67031	D	.	.	0.149	0.32922	B	.	.	0.863360	0.12360	8.897	0.96156257464329098	0.28884	0.10796	0.16198	N	AEFBI	.	.	.	-0.776620159066213	0.13921	0.6893904	-0.985763727316465	0.10104	0.50683	1.49191882040635E-4	0.05573	0.67177	0.52595	0	0.573888	0.26702	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	3.97	-2.08	0.06852	0.132000	0.15716	.	.	0.689000	0.82905	0.000000	0.06391	.	.	0.001000	0.02609	0.5029:0.1593:0.1838:0.1539	0.943	0.01273	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	4518.98	299	chr14	104950286	.	A	T	4518.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.18;DP=5389;ExcessHet=0.0000;FS=0.408;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.89;MQRankSum=0.895;QD=12.87;ReadPosRankSum=-5.450e-01;SOR=0.663	GT:AD:DP:GQ:PL	0/0:151,0:151:99:0,120,1800	20	0	1	0
chr14	104950335	104950335	G	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C4816A:p.L1606I	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.855	P	0.804	P	.	.	1.000	N	1.7	L	4.64	T	-1.052	T	0.011	T	0.105	2.141	13.11	-4.7	-1.024	-5.204	5.962	0.059	0.00327716983238	0.0011	0.00119808	0.0006	0.0021	0.0007	0.0024	0.0002	0.0003	0.0023	0.0003	0.0005757	89	154602	rs184622740	0.0003	0.0003	0.0003	0.0003	0.0018	0.0002	0.0002	0.0015	0.0014	0.0016	0.0004	0	0.0018	0.0001	0.0005	0.0002	0.0005	0.0005	0.0009	0.0010	0.0008	0.0009	0.0043	0.0007	0.0007	0.0029	0.0024	0.0019	0	0.0003	0	0.0043	0.0002	0	0.0003	0.0015	0.0004	0.309	0.14064	T	0.32	0.19131	T	0.855	0.47121	P	0.804	0.58350	P	.	.	.	.	1	0.08975	N	1.905	0.50856	L	4.64	0.01799	T	0.68	0.02228	N	0.11	0.09631	-1.0523	0.13763	T	0.011	0.03903	T	9	0.0070287883	0.00160	T	0.003277	0.07268	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.0015801848915612286	0.00146	.	.	0.205192834139	0.00623	T	0.02176	0.16890	T	-0.646939	0.00076	T	-0.707607	0.05420	T	0.025258632386768	0.01307	T	0.462854	0.13445	T	0.054099653	0.10333	0.037322722	0.03361	0.054099653	0.10333	0.037322722	0.03361	-8.388	0.63686	D	.	.	0.067	0.02458	B	.	.	0.181943	0.05692	2.140	0.97699678831370107	0.35430	0.01399	0.04744	N	AEFBI	.	.	.	-0.830902448808071	0.12525	0.611064	-1.11279352235807	0.07455	0.3626933	0.00107900956696758	0.08194	0.67177	0.52595	0	0.573888	0.26702	0	0.547309	0.15389	0	0.711	0.71501	0	.	.	3.97	-4.7	0.03051	-2.242000	0.01278	0.000000	0.13247	0.617000	0.49538	0.000000	0.06391	0.007000	0.19602	0.006000	0.07323	0.0841:0.5059:0.2797:0.1303	5.962	0.18541	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3758.98	367	chr14	104950335	.	G	T	3758.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.06;DP=6875;ExcessHet=0.0000;FS=2.925;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.95;MQRankSum=0.00;QD=16.06;ReadPosRankSum=-4.680e-01;SOR=0.871	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:240,0:240:99:.:.:0,120,1800	20	0	1	0
chr14	104950538	104950538	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C4613T:p.A1538V	.	.	428	1087	7	0	0	7	0.00320954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.486	P	0.23	B	.	.	1.000	N	0.02	N	6.54	T	-0.971	T	0.000	T	0.074	0.652	7.499	-2.85	-0.553	-1.413	4.426	0.028	.	0.0032	0.0179712	0.0066	0.0113	0.0028	0.0447	0.0008	0.0019	0.0068	0.0077	0.0068004	177	26028	rs185154010	0.0038	0.0039	0.0038	0.0038	0.0311	0.0037	0.0037	0.0296	0.0290	0.0096	0.0026	0.0009	0.0311	0.0008	0.0026	0.0022	0.0096	0.0087	0.0065	0.0068	0.0062	0.0067	0.0490	0.0061	0.0060	0.0439	0.0420	0.0098	0	0.0029	0.0003	0.0490	0.0009	0.0035	0.0023	0.0100	0.0200	0.174	0.22486	T	0.273	0.22154	T	0.486	0.36871	P	0.23	0.38212	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	6.54	0.00525	T	-1.38	0.34198	N	0.05	0.02179	-0.9705	0.37094	T	0.000	0.00114	T	9	0.003598839	0.00065	T	.	.	.	0.028	0.06331	.	.	0.0297737177859	0.01360	0.0014970766985751634	0.00138	.	.	0.216862082481	0.01137	T	0.020729	0.16269	T	-0.699695	0.00037	T	-0.73686	0.04024	T	0.00540246813598207	0.00059	T	0.343166	0.07474	T	0.027432075	0.01935	0.038549893	0.03748	0.027432075	0.01935	0.038549893	0.03747	-5.533	0.42176	T	.	.	0.074	0.05274	B	.	.	-0.790880	0.01125	0.052	0.9503705482766367	0.26039	0.01896	0.05817	N	AEFBI	.	.	.	-1.33397493956742	0.03294	0.146895	-1.45999011727532	0.02681	0.1237557	2.62773855013347E-4	0.06244	0.67177	0.52595	0	0.588015	0.36545	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	2.59	-2.85	0.05392	0.636000	0.24333	-11.791000	0.00575	-0.566000	0.04804	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3492:0.0:0.4924:0.1584	4.426	0.10931	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	6528.08	334	chr14	104950538	.	G	A	6528.08	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.020e-01;DP=5772;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=49.29;MQRankSum=-1.197e+00;QD=32.64;ReadPosRankSum=1.62;SOR=0.345	GT:AD:DP:GQ:PL	0/0:107,0:107:99:0,120,1800	20	1	0	0
chr14	104950652	104950672	CCCTTAACATCTATCTGGGGC	-	exonic	AHNAK2	.	nonframeshift deletion	AHNAK2:NM_001350929:exon7:c.4479_4499del:p.Q1495_P1501del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.541e-05	0	0	0	0	3.06e-05	0	6.132e-05	3.84e-05	1	26028	rs760272975	5.555e-06	1.379e-05	2.764e-06	8.372e-06	5.092e-05	2.39e-06	1.73e-06	9.36e-06	4.6e-06	0	0	0	5.092e-05	0	0	2.736e-06	0	3.523e-05	0	6.673e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	237.4	280	chr14	104950651	.	GCCCTTAACATCTATCTGGGGC	G	237.4	.	AC=2;AF=0.048;AN=42;DP=5092;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.9934;MLEAC=2;MLEAF=0.048;MQ=39.21;QD=29.48;SOR=3.912	GT:AD:DP:GQ:PL	0/0:115,0:115:99:0,120,1800	20	1	0	0
chr14	104950695	104950695	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A4456G:p.M1486V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.018	B	0.013	B	.	.	0.967	N	2.235	M	5.43	T	-0.979	T	0.004	T	0.399	-0.437	1.968	-6.26	-1.504	-0.938	7.805	0.133	0.0041988079455	0.0005	.	0.0003	0.0031	0.0004	0.0005	0	0	0	0	3.84e-05	1	26028	rs200380758	0.0001	0.0002	0.0002	0.0001	0.0037	0.0001	0.0001	0.0032	0.0030	0.0037	0.0005	0	0.0004	0	0	9.119e-06	0.0002	9.388e-05	0.0011	0.0017	0.0009	0.0012	0.0034	0.0009	0.0009	0.0030	0.0028	0.0034	0	0.0006	0	0.0015	0	0	1.524e-05	0	0.0002	0.538	0.06847	T	0.298	0.20486	T	0.018	0.17786	B	0.013	0.16460	B	.	.	.	.	0.966517	0.38535	D	1.37	0.34214	L	5.43	0.00989	T	-1.48	0.36189	N	0.291	0.32921	-0.9794	0.35139	T	0.004	0.01330	T	9	0.0062799156	0.00142	T	0.004199	0.10121	T	0.133	0.36157	.	.	0.0138822411134	0.00435	0.009098825432665936	0.00872	.	.	0.254592239857	0.04267	T	0.018731	0.15049	T	-0.51241	0.00486	T	-0.514366	0.20867	T	0.00441812691187203	0.00047	T	0.444256	0.12390	T	0.16156295	0.36173	0.1378784	0.32943	0.16156295	0.36173	0.1378784	0.32943	-5.601	0.42801	T	.	.	0.183	0.39647	B	.	.	0.437954	0.08080	4.807	0.69790687137180663	0.09086	0.00660	0.02859	N	AEFBI	.	.	.	-1.0566555443308	0.07458	0.3464916	-1.1779630658425	0.06279	0.3017504	0.0652585298702765	0.15355	0.67177	0.52595	0	0.573888	0.26702	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	3.41	-6.26	0.01856	-0.367000	0.07607	-6.803000	0.01302	0.607000	0.46521	0.012000	0.18695	0.000000	0.08366	0.678000	0.33484	0.0:0.2433:0.5007:0.256	7.805	0.28359	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	2797.33	280	chr14	104950695	.	T	C	2797.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.650e-01;DP=5086;ExcessHet=0.0000;FS=7.056;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=55.01;MQRankSum=-2.874e+00;QD=13.92;ReadPosRankSum=0.103;SOR=1.131	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:115,0:115:99:.:.:0,120,1800	19	0	1	1
chr14	104950716	104950716	C	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G4435C:p.V1479L	.	.	.	.	.	.	.	.	.	.	.	2338057	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.51	T	0.019	B	0.013	B	.	.	1.000	N	1.72	L	5.49	T	-0.932	T	0.004	T	0.174	-0.216	2.955	3.05	0.621	-0.595	12.233	0.039	0.00558108494948	.	0.000998403	0.0003	0.0026	0.0004	0	0	0.0002	0	0	0.0003299	51	154602	rs201305152	0.0002	0.0003	0.0002	0.0002	0.0015	0.0002	0.0001	0.0012	0.0011	0.0015	0.0005	0.0017	0.0003	0	0.0002	8.025e-05	0.0004	9.389e-05	0.0011	0.0018	0.0010	0.0012	0.0033	0.0010	0.0009	0.0028	0.0026	0.0033	0	0.0006	0.0021	0.0015	0	0	0.0001	0	0.0002	0.202	0.20230	T	0.343	0.17857	T	0.019	0.17989	B	0.013	0.16460	B	.	.	.	.	1	0.81001	D	1.465	0.36909	L	5.49	0.00930	T	-1.17	0.29933	N	0.234	0.26354	-0.9325	0.43770	T	0.004	0.01435	T	9	0.0050415695	0.00109	T	0.005581	0.14409	T	0.039	0.10176	0.317	0.29419	0.0297737177859	0.01360	0.003504521705394993	0.00327	.	.	0.290864109993	0.09048	T	0.021628	0.16810	T	-0.581833	0.00188	T	-0.627554	0.10600	T	0.0112396943767457	0.00165	T	0.577542	0.20782	T	0.06307895	0.13243	0.061105244	0.11745	0.06307895	0.13243	0.061105244	0.11744	-4.934	0.36115	T	.	.	0.204	0.42934	B	.	.	-0.208095	0.03048	0.471	0.74171055708229017	0.10596	0.09214	0.15015	N	AEFBI	.	.	.	-0.975088348401705	0.09138	0.4312464	-0.956632947347064	0.10770	0.5445524	2.97306880482216E-4	0.06406	0.67177	0.52595	0	0.573888	0.26702	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	3.94	3.05	0.34272	-0.604000	0.05763	-20.000000	0.00162	0.548000	0.25860	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.9138:0.0:0.0862	12.233	0.53814	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	1948.33	280	chr14	104950716	.	C	G	1948.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.30;DP=5071;ExcessHet=0.0000;FS=14.160;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=55.88;MQRankSum=-4.623e+00;QD=10.42;ReadPosRankSum=0.247;SOR=1.413	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:115,0:115:99:.:.:0,120,1800	19	0	1	1
chr14	104950752	104950752	A	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T4399C:p.S1467P	.	.	438	1079	4	1	0	6	0.00277264	.	.	2807538	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.4	T	0.0	B	0.001	B	.	.	1.000	N	-2.34	N	5.56	T	-0.927	T	0.001	T	0.053	0.006	4.043	-5.53	-1.435	-1.935	1.311	0.012	0.00525078979012	.	0.000798722	0.0002	0.0011	0.0005	0.0002	0	0.0001	0	0.0001	0.0003842	10	26028	rs566793012	0.0002	0.0004	0.0002	0.0002	0.0020	0.0002	0.0002	0.0016	0.0014	0.0020	0.0010	3.878e-05	0.0005	0	0.0003	0.0001	0.0002	0.0005	0.0010	0.0023	0.0009	0.0011	0.0027	0.0009	0.0008	0.0023	0.0021	0.0027	0	0.0009	0	0.0022	0	0	0.0001	0.0005	0.0016	0.421	0.09806	T	0.29	0.21011	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-1.085	0.01025	N	5.56	0.00864	T	0.63	0.02404	N	0.051	0.02272	-0.9273	0.44530	T	0.001	0.00255	T	9	0.010923356	0.00241	T	0.005251	0.13402	T	0.012	0.01476	.	.	0.0138822411134	0.00435	0.003289280436733485	0.00306	.	.	0.203316047788	0.00559	T	0.020638	0.16215	T	-0.728397	0.00024	T	-0.849147	0.00970	T	0.00123094825792636	0.00012	T	0.184182	0.01901	T	0.05584457	0.10909	0.045535143	0.06147	0.05584457	0.10909	0.045535143	0.06147	0.518	0.00209	T	.	.	0.047	0.00070	B	.	.	-0.740706	0.01229	0.062	0.2685719216054927	0.01306	0.00061	0.00447	N	AEFBI	.	.	.	-2.12555164112222	0.00112	0.004811823	-2.11010910704639	0.00177	0.007797872	0.0116821985739223	0.12221	0.67177	0.52595	0	0.573888	0.26702	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	3.03	-5.53	0.02351	-0.793000	0.04695	-2.546000	0.03624	-0.968000	0.01952	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.181:0.1259:0.3099:0.3832	1.311	0.01970	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	299.33	280	chr14	104950752	.	A	G	299.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=3.92;DP=5043;ExcessHet=0.0000;FS=42.803;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=55.36;MQRankSum=-5.941e+00;QD=1.93;ReadPosRankSum=-3.789e+00;SOR=3.481	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:115,0:115:99:.:.:0,120,1800	19	0	1	1
chr14	104950782	104950782	C	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G4369T:p.V1457L	.	.	438	1083	0	1	0	2	0.000922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.013	B	0.01	B	.	.	1.000	N	1.7	L	4.89	T	-0.930	T	0.005	T	0.148	0.128	4.687	-4.04	-0.380	-0.949	3.424	0.019	0.00599650578612	.	.	0.0003	0.0024	0.0002	0	0	3.073e-05	0	0.0003	3.84e-05	1	26028	rs765125112	6.876e-05	0.0002	8.848e-05	4.884e-05	0.0013	5.756e-05	5.341e-05	0.0010	0.0009	0.0013	0.0003	0	0	0	0.0005	1.186e-05	0.0003	0.0001	0.0003	0.0010	0.0003	0.0003	0.0010	0.0002	0.0002	0.0008	0.0007	0.0010	0	0.0004	0	0	0	0	0	0	0	0.213	0.19430	T	0.746	0.04877	T	0.013	0.16609	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	4.89	0.01430	T	-0.73	0.20576	N	0.156	0.16168	-0.9302	0.44109	T	0.005	0.01578	T	9	0.01160872	0.00253	T	0.005997	0.15668	T	0.019	0.03383	0.179	0.08626	0.0297737177859	0.01360	0.0033154729442826975	0.00309	.	.	0.234129279852	0.02287	T	0.022236	0.17180	T	-0.463763	0.00931	T	-0.678238	0.07092	T	0.00186729727061535	0.00019	T	0.443756	0.12347	T	0.057052992	0.11304	0.04389729	0.05564	0.057052992	0.11304	0.04389729	0.05564	-5.07	0.37590	T	.	.	0.201	0.42563	B	.	.	-0.614637	0.01532	0.099	0.34288307491979214	0.02089	0.04094	0.09557	N	AEFBI	.	.	.	-1.2769790861655	0.03954	0.1775906	-1.39233997716938	0.03333	0.15526	0.00154432415775928	0.08631	0.67177	0.52595	0	0.573888	0.26702	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	4.16	-4.04	0.03741	-0.689000	0.05245	-12.458000	0.00523	-0.318000	0.05900	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2216:0.2264:0.4411:0.1109	3.424	0.06976	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	112.33	249	chr14	104950782	.	C	A	112.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=5.14;DP=5573;ExcessHet=0.0000;FS=55.079;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=57.15;MQRankSum=-1.121e+01;QD=0.35;ReadPosRankSum=-5.434e+00;SOR=5.991	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:178,0:178:99:.:.:0,120,1800	19	0	1	1
chr14	104950797	104950797	C	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G4354C:p.V1452L	.	.	440	1079	2	1	0	4	0.00185014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.005	B	0.011	B	.	.	1.000	N	1.05	L	5.84	T	-0.952	T	0.002	T	0.07	1.161	9.726	-4.26	-1.659	-6.043	6.846	0.038	0.00500321622365	.	.	0.0002	0.0016	8.991e-05	0.0001	0	1.537e-05	0	0.0002	3.84e-05	1	26028	rs755412080	6.042e-05	0.0002	6.36e-05	5.722e-05	0.0006	4.957e-05	4.631e-05	0.0004	0.0003	0.0006	0.0001	0	2.546e-05	0	0	3.283e-05	0.0002	0.0002	0.0003	0.0008	0.0003	0.0003	0.0009	0.0002	0.0002	0.0006	0.0005	0.0009	0	0.0003	0	0	0	0	0	0	0	0.793	0.03175	T	0.33	0.18560	T	0.005	0.12996	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	1.23	0.30720	L	5.84	0.00647	T	-0.88	0.23808	N	0.101	0.08366	-0.9518	0.40660	T	0.002	0.00707	T	9	0.014578909	0.00306	T	0.005003	0.12629	T	0.038	0.09825	.	.	0.0138822411134	0.00435	0.0022869556933215966	0.00211	.	.	0.228116363287	0.01831	T	0.018645	0.14992	T	-0.38514	0.02890	T	-0.791004	0.02137	T	0.0148416917073506	0.00313	T	0.441356	0.12220	T	0.048643593	0.08512	0.037463795	0.03404	0.048643593	0.08512	0.037463795	0.03404	-6.197	0.47898	T	.	.	0.160	0.35352	B	.	.	-0.943408	0.00855	0.030	0.80317507789157849	0.13146	0.01476	0.04917	N	AEFBI	.	.	.	-1.44449474492981	0.02260	0.09962229	-1.56300307372266	0.01887	0.08607274	7.31560349694965E-4	0.07723	0.67177	0.52595	0	0.573888	0.26702	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	3.89	-4.26	0.03497	-4.768000	0.00218	-20.000000	0.00162	0.548000	0.25860	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.3983:0.3824:0.2193	6.846	0.23169	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	693.33	249	chr14	104950797	.	C	G	693.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=9.98;DP=5619;ExcessHet=0.0000;FS=77.877;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=55.92;MQRankSum=-1.214e+01;QD=1.91;ReadPosRankSum=-3.658e+00;SOR=5.588	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:178,0:178:99:.:.:0,120,1800	19	0	1	1
chr14	104950809	104950809	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G4342A:p.A1448T	.	.	438	1080	3	1	0	5	0.00230947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.22	B	0.042	B	.	.	1.000	N	1.9	L	5.55	T	-0.952	T	0.003	T	0.155	2.989	15.97	-2.84	-0.793	-1.677	3.989	0.040	0.00408643637438	8.3e-05	0.000399361	0.0003	0.0010	0	0	0	0.0002	0	0.0007	0.0002264	35	154602	rs369187097	0.0001	0.0002	9.541e-05	0.0001	0.0008	9.751e-05	9.223e-05	0.0006	0.0006	0.0005	6.989e-05	0	2.545e-05	0	0	5.838e-05	0.0002	0.0008	0.0003	0.0009	0.0003	0.0003	0.0013	0.0002	0.0002	0.0006	0.0004	0.0007	0	0.0002	0	0	0	0	6.112e-05	0	0.0013	0.031	0.45039	D	0.287	0.21210	T	0.22	0.30288	B	0.042	0.24114	B	.	.	.	.	1	0.08975	N	0.785	0.19527	N	5.55	0.00874	T	-1.15	0.29525	N	0.184	0.19995	-0.9517	0.40678	T	0.003	0.01092	T	9	0.010934979	0.00241	T	0.004086	0.09744	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.002252569420266716	0.00209	.	.	0.199688360095	0.00448	T	0.02156	0.16767	T	-0.550204	0.00291	T	-0.620881	0.11116	T	0.0233194312746534	0.01062	T	0.454055	0.12934	T	0.037713554	0.04888	0.058374852	0.10776	0.037713554	0.04887	0.058374852	0.10776	-4.615	0.32360	T	.	.	0.074	0.05060	B	.	.	0.314484	0.06893	3.431	0.98842132617429923	0.47135	0.02121	0.06267	N	AEFBI	.	.	.	-1.20475174661264	0.04930	0.2235698	-1.34082630770981	0.03915	0.1836057	2.27063481867866E-4	0.06048	0.67177	0.52595	0	0.573888	0.26702	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	4.16	-2.84	0.05408	0.916000	0.28273	-3.073000	0.03085	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2547:0.4426:0.0:0.3027	3.989	0.09020	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	1083.33	249	chr14	104950809	.	C	T	1083.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.87;DP=5639;ExcessHet=0.0000;FS=91.774;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=55.67;MQRankSum=-1.175e+01;QD=2.83;ReadPosRankSum=-3.066e+00;SOR=5.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:178,0:178:99:.:.:0,120,1800	19	0	1	1
chr14	104950928	104950928	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C4223T:p.P1408L	.	.	445	1068	9	0	0	9	0.0041958	.	.	2330184	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.24	T	0.763	P	0.472	P	.	.	1.000	N	2.945	M	4.24	T	-1.033	T	0.018	T	0.188	2.613	14.70	0.793	0.175	1.622	3.247	0.054	0.00329416831355	.	0.000199681	0.0002	0.0002	0.0011	0	0	1.557e-05	0	0.0006	0.0001746	27	154602	rs562346413	0.0001	0.0001	9.751e-05	0.0002	0.0009	0.0001	0.0001	0.0008	0.0007	0.0002	0.0008	0	2.544e-05	0	0.0007	4.415e-05	0.0002	0.0009	0.0002	0.0002	7.797e-05	0.0002	0.0025	9.906e-05	8.268e-05	0.0013	0.0010	0.0001	0	0	0	0.0002	0	0	9.559e-05	0	0.0025	0.02	0.49613	D	0.062	0.45318	T	0.763	0.43659	P	0.472	0.46817	P	.	.	.	.	1	0.08975	N	2.78	0.81115	M	4.24	0.02590	T	-3.95	0.73477	D	0.147	0.14905	-1.0329	0.19522	T	0.018	0.07470	T	9	0.019607812	0.00440	T	0.003294	0.07298	T	0.054	0.15330	0.284	0.24121	0.21279746466	0.20884	0.0068849801613100415	0.00655	.	.	0.211679160595	0.00884	T	0.174188	0.52332	T	-0.491415	0.00638	T	-0.578361	0.14692	T	0.0719501301072508	0.08922	T	0.79652	0.44001	T	0.047306694	0.08065	0.061023034	0.11717	0.047306694	0.08065	0.061023034	0.11716	-9.594	0.71443	D	.	.	0.114	0.22537	B	.	.	1.564129	0.20031	14.56	0.99657071837221078	0.77694	0.05276	0.11117	N	AEFBI	.	.	.	-0.374875070273658	0.26367	1.438487	-0.601829260752575	0.19445	1.043354	1.01345154810707E-4	0.05123	0.651	0.46895	0	0.573888	0.26702	0	0.547309	0.15389	0	0.683762	0.67416	0	.	.	4.16	0.793	0.17776	0.977000	0.29072	-1.240000	0.05935	-0.178000	0.10482	0.017000	0.19353	0.000000	0.08366	0.001000	0.02609	0.1214:0.4835:0.2308:0.1643	3.247	0.06398	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	10178.33	69	chr14	104950928	.	G	A	10178.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.37;DP=3358;ExcessHet=0.0000;FS=4.125;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=57.60;MQRankSum=-1.759e+00;QD=15.33;ReadPosRankSum=1.56;SOR=0.930	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:60,0:60:99:.:.:0,99,1485	19	0	1	1
chr14	104950937	104950937	A	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T4214C:p.V1405A	.	.	447	1070	4	1	0	6	0.0027959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.039	B	0.042	B	.	.	1.000	N	2.185	M	5.46	T	-0.918	T	0.004	T	0.131	2.614	14.70	-2.23	-0.308	0.217	5.411	0.042	0.00571125444378	.	0.00299521	0.0009	0.0040	0.0033	0.0007	0	0.0002	0.0011	0.0012	0.0009702	150	154602	rs201208145	0.0006	0.0011	0.0006	0.0006	0.0043	0.0006	0.0006	0.0037	0.0035	0.0043	0.0021	7.887e-05	0.0007	0.0002	0.0020	0.0004	0.0012	0.0010	0.0020	0.0031	0.0020	0.0019	0.0050	0.0018	0.0017	0.0044	0.0042	0.0050	0	0.0015	0	0.0019	0.0001	0	0.0002	0.0019	0.0012	0.109	0.29288	T	0.11	0.37310	T	0.039	0.21116	B	0.042	0.24114	B	.	.	.	.	1	0.08975	N	2.39	0.68882	M	5.46	0.00959	T	-1.71	0.40660	N	0.137	0.13484	-0.9183	0.45783	T	0.004	0.01295	T	9	0.004491329	0.00092	T	0.005711	0.14802	T	0.042	0.11227	.	.	0.0138822411134	0.00435	0.004643344942407193	0.00437	.	.	0.252464830875	0.04031	T	0.019876	0.15755	T	-0.569701	0.00222	T	-0.636664	0.09914	T	0.011275037843846	0.00166	T	0.319768	0.06432	T	0.04307916	0.06649	0.037972894	0.03565	0.04307916	0.06649	0.037972894	0.03565	-3.578	0.17539	T	.	.	0.151	0.33412	B	.	.	0.774137	0.11441	8.048	0.92004548075681325	0.21340	0.03024	0.07904	N	AEFBI	.	.	.	-1.03340405883072	0.07917	0.3694327	-1.15566882780084	0.06666	0.3216504	1.63033908453476E-4	0.05721	0.651	0.46895	0	0.573888	0.26702	0	0.547309	0.15389	0	0.683762	0.67416	0	.	.	4.06	-2.23	0.06539	0.776000	0.26365	-4.395000	0.02179	0.684000	0.82519	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.456:0.1544:0.3895:0.0	5.411	0.15649	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	733.33	67	chr14	104950937	.	A	G	733.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-3.200e-02;DP=2929;ExcessHet=0.0000;FS=1.482;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=41.07;MQRankSum=-1.912e+00;QD=10.95;ReadPosRankSum=0.617;SOR=0.394	GT:AD:DP:GQ:PL	0/0:60,0:60:99:0,99,1485	19	0	1	1
chr14	104951061	104951061	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G4090A:p.E1364K	.	.	834	687	1	0	0	1	0.000727273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.003	B	.	.	1.000	N	-0.805	N	5.77	T	-0.941	T	0.001	T	0.163	-0.041	3.803	-0.343	-0.027	-0.845	3.825	0.016	.	.	0.00379393	0.0002	0.0008	0.0001	0.0001	0	7.199e-05	0	0.0003	0.000304	47	154602	rs558434835	0.0003	0.0003	0.0003	0.0003	0.0065	0.0003	0.0002	0.0045	0.0038	0.0007	8.436e-05	0	0.0027	5.215e-05	0.0065	0.0001	0.0005	0.0002	0.0003	0.0003	0.0004	0.0002	0.0009	0.0002	0.0002	0.0005	0.0004	0.0007	0	9.117e-05	0	0.0009	0	0	9.948e-05	0.0007	0	0.967	0.02065	T	0.779	0.04344	T	0.008	0.14655	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.275	0.09989	N	5.77	0.00687	T	-0.28	0.11547	N	0.227	0.25499	-0.9409	0.42473	T	0.001	0.00348	T	9	0.0061160624	0.00138	T	.	.	.	0.016	0.02506	0.25	0.18757	0.0138822411134	0.00435	0.008763982729690596	0.00840	.	.	0.216902032495	0.01139	T	0.016724	0.13769	T	-0.606687	0.00133	T	-0.689792	0.06401	T	0.00158377754669315	0.00016	T	0.536546	0.18022	T	0.024663081	0.01321	0.04016511	0.04279	0.024663081	0.01321	0.04016511	0.04279	-5.674	0.43461	T	.	.	0.091	0.13221	B	.	.	0.711841	0.10810	7.490	0.81967624865579636	0.13951	0.01435	0.04825	N	AEFBI	.	.	.	-1.87916177843528	0.00379	0.01628306	-1.814476327183	0.00714	0.03180832	1.08505472870929E-4	0.05123	0.475973	0.10046	0	0.573888	0.26702	0	0.547309	0.15389	0	0.528226	0.09195	0	.	.	4.16	-0.343	0.12004	-0.379000	0.07494	-14.750000	0.00388	-0.177000	0.10537	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0903:0.4243:0.2784:0.207	3.825	0.08364	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09091	206.35	1726	chr14	104951061	.	C	T	206.35	.	AC=2;AF=0.091;AN=22;DP=1726;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.9829;MLEAC=2;MLEAF=0.091;MQ=31.66;QD=29.31;SOR=3.611	GT:AD:DP:GQ:PGT:PID:PL:PS	./.	10	1	0	10
chr14	104951334	104951334	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A3817G:p.T1273A	.	.	828	686	8	0	0	8	0.0057971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.039	B	0.062	B	.	.	1.000	N	0.655	N	4.11	T	-0.903	T	0.005	T	0.049	-0.848	0.555	-3.98	-0.627	0.026	11.807	0.037	.	0.0042	0.0255591	0.0004	0.0032	0.0002	0	0	2.429e-05	0	0.0003	0.0012484	193	154602	rs200299044	0.0002	0.0012	0.0003	0.0002	0.0034	0.0002	0.0002	0.0029	0.0027	0.0034	0.0001	7.08e-05	2.576e-05	7.749e-05	0.0011	8.89e-05	0.0004	0.0007	0.0006	0.0022	0.0006	0.0006	0.0016	0.0005	0.0005	0.0012	0.0011	0.0016	0	0.0004	0	0	0	0	7.789e-05	0.0008	0.0007	0.488	0.08042	T	1.0	0.01155	T	0.039	0.21116	B	0.062	0.26930	B	.	.	.	.	1	0.08975	N	0.84	0.21119	L	4.11	0.02916	T	-0.35	0.12847	N	0.042	0.01498	-0.9033	0.47639	T	0.005	0.01506	T	9	0.0034236312	0.00060	T	.	.	.	0.037	0.09474	.	.	0.0138822411134	0.00435	0.007938354129477415	0.00758	.	.	0.236660003662	0.02498	T	0.01717	0.14057	T	-0.415667	0.01824	T	-0.834853	0.01179	T	0.00430580012968233	0.00046	T	0.39886	0.10126	T	0.029561564	0.02471	0.050798908	0.08046	0.029561564	0.02471	0.050798908	0.08045	-5.451	0.41407	T	.	.	0.081	0.08081	B	.	.	-0.450256	0.02032	0.183	0.1912137036683241	0.00631	0.00374	0.01900	N	AEFBI	.	.	.	-1.51229937310867	0.01768	0.07745686	-1.57065436800545	0.01837	0.08371356	6.06370415769246E-4	0.07437	0.475973	0.10046	0	0.573888	0.26702	0	0.547309	0.15389	0	0.528226	0.09195	0	.	.	4.18	-3.98	0.03810	-1.531000	0.02323	-4.890000	0.01939	-0.190000	0.09434	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5377:0.0:0.4623	11.807	0.51436	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04167	1839.41	1974	chr14	104951334	.	T	C	1839.41	.	AC=1;AF=0.042;AN=24;BaseQRankSum=3.14;DP=1974;ExcessHet=0.0000;FS=4.448;InbreedingCoeff=-0.0435;MLEAC=2;MLEAF=0.083;MQ=58.12;MQRankSum=-1.095e+01;QD=6.11;ReadPosRankSum=-2.440e-01;SOR=0.474	GT:AD:DP:GQ:PL	./.	11	0	1	9
chr14	104952357	104952357	G	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C2794G:p.L932V	.	.	429	1078	10	1	4	16	0.00553506	.	.	2350204	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-2.25	N	6.42	T	-0.958	T	0.000	T	0.066	-2.120	0.005	0.558	-0.661	-3.097	5.329	0.030	0.00742272511557	0.0002	0.00179712	0.0010	0.0010	0.0010	0	0.0005	0.0008	0.0034	0.0025	0.0010737	166	154602	rs140208061	0.0005	0.0016	0.0005	0.0005	0.0015	0.0005	0.0004	0.0013	0.0012	0.0006	0.0012	0.0006	0.0001	0.0010	0.0007	0.0004	0.0006	0.0015	0.0014	0.0083	0.0013	0.0016	0.0030	0.0013	0.0012	0.0023	0.0020	0.0011	0.0534	0.0030	0.0003	0.0016	0.0021	0.0041	0.0006	0.0026	0.0005	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.645	0.00038	N	6.42	0.00539	T	1.36	0.00878	N	0.013	0.00142	-0.9577	0.39608	T	0.000	0.00152	T	9	0.0063566864	0.00144	T	0.007423	0.19685	T	0.030	0.07022	.	.	0.0138822411134	0.00435	0.0023694028766534227	0.00219	.	.	0.226893186569	0.01746	T	0.016691	0.13750	T	-0.401434	0.02266	T	-0.814408	0.01569	T	0.00738041416499461	0.00085	T	0.312169	0.06100	T	0.016698884	0.00216	0.025168544	0.00553	0.016698884	0.00216	0.025168544	0.00553	0.75	0.00168	T	.	.	0.047	0.00073	B	.	.	-1.191806	0.00539	0.013	0.087555029349664651	0.00075	0.00044	0.00357	N	AEFBI	.	.	.	-2.17828449687301	0.00086	0.003667588	-2.06383039725873	0.00223	0.009842606	0.00296458788405106	0.09834	0.706548	0.73137	0	0.573888	0.26702	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.5	0.558	0.16454	-0.645000	0.05506	-5.224000	0.01800	-2.978000	0.00146	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4351:0.2925:0.2724	5.329	0.15229	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	10912.98	72	chr14	104952357	.	G	C	10912.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.007e+00;DP=3549;ExcessHet=0.0000;FS=1.114;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.98;MQRankSum=-1.639e+00;QD=20.28;ReadPosRankSum=0.394;SOR=0.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:254,284:538:99:0|1:104952357_G_C:10927,0,9580:104952357	20	0	1	0
chr14	104952976	104952976	C	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G2175T:p.E725D	.	.	425	1066	31	0	0	31	0.0143319	.	.	2333959	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.001	B	0.004	B	.	.	1.000	N	-2.025	N	6.56	T	-0.967	T	0.000	T	0.053	-2.709	0	-7.22	-2.709	0.762	3.667	0.028	0.00512438298702	.	.	0.0004	0.0012	0.0003	0	0.0002	0.0005	0	0	0.0010373	27	26028	rs201734490	6.088e-05	0.0032	7.382e-05	4.781e-05	0.0014	4.995e-05	4.666e-05	0.0007	0.0005	0.0005	0.0002	8.15e-05	0.0001	5.71e-05	0.0014	3.031e-05	0.0002	2.362e-05	0.0008	0.0041	0.0007	0.0008	0.0025	0.0007	0.0006	0.0014	0.0012	0.0016	0	0.0006	0.0006	0.0025	9.681e-05	0	0.0003	0.0016	0.0007	0.689	0.04315	T	1.0	0.01155	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-1.04	0.01097	N	6.56	0.00523	T	0.45	0.03191	N	0.029	0.00666	-0.9666	0.37894	T	0.000	0.00114	T	9	0.0086449385	0.00196	T	0.005124	0.13001	T	0.028	0.06331	.	.	0.0138822411134	0.00435	0.007317679835181649	0.00697	.	.	0.226426288486	0.01714	T	0.016018	0.13319	T	-0.655655	0.00067	T	-0.84332	0.01050	T	0.00203408097626173	0.00021	T	0.269973	0.04523	T	0.019858923	0.00526	0.032933876	0.02107	0.019858923	0.00526	0.032933876	0.02107	-0.032	0.00361	T	.	.	0.046	0.00066	B	.	.	-2.549883	0.00028	0.001	0.14482228779594011	0.00321	0.00449	0.02181	N	AEFBI	.	.	.	-2.56577318146295	0.00011	0.0004852454	-2.55233232990428	0.00017	0.0007689442	0.983344733312058	0.30544	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	3.61	-7.22	0.01335	-3.536000	0.00489	-20.000000	0.00162	-5.109000	0.00014	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4831:0.2799:0.1433:0.0937	3.667	0.07794	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	607.98	72	chr14	104952976	.	C	A	607.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.714e+00;DP=3901;ExcessHet=0.0000;FS=2.662;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.88;MQRankSum=-2.384e+01;QD=0.76;ReadPosRankSum=1.02;SOR=0.716	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	20	0	1	0
chr14	104953010	104953010	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G2141A:p.R714Q	.	.	432	1061	28	1	0	30	0.0139405	.	.	2807597	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.5	T	0.276	B	0.026	B	.	.	1.000	N	0.915	L	5.83	T	-0.953	T	0.002	T	0.077	-0.272	2.694	-4.76	-2.317	-0.950	9.798	0.023	0.00458819682603	.	0.00179712	0.0013	0.0007	0.0020	0.0005	0	0.0014	0.0033	0.0012	0.0011142	29	26028	rs199658132	0.0011	0.0014	0.0010	0.0011	0.0317	0.0010	0.0010	0.0279	0.0265	0.0011	0.0020	0.0078	0.0012	0	0.0317	0.0007	0.0026	0.0009	0.0015	0.0020	0.0016	0.0013	0.0039	0.0013	0.0012	0.0031	0.0028	0.0010	0	0.0039	0.0049	0.0022	0.0004	0.0556	0.0009	0.0033	0.0006	0.489	0.08018	T	0.351	0.17425	T	0.276	0.31942	B	0.026	0.20792	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	5.83	0.00652	T	-0.2	0.10136	N	0.053	0.02462	-0.9531	0.40433	T	0.002	0.00646	T	9	0.007112503	0.00162	T	0.004588	0.11346	T	0.023	0.04649	.	.	0.0138822411134	0.00435	0.013048771247776631	0.01262	.	.	0.192598477006	0.00274	T	0.020291	0.16003	T	-0.701539	0.00036	T	-0.787753	0.02227	T	0.00167935875739516	0.00017	T	0.317468	0.06331	T	0.009478198	0.00003	0.027726961	0.00948	0.009478198	0.00003	0.027726961	0.00948	-2.732	0.07575	T	.	.	0.074	0.04932	B	.	.	-0.388694	0.02254	0.232	0.59300482000986832	0.06192	0.00179	0.01050	N	AEFBI	.	.	.	-2.1233130334246	0.00114	0.00486927	-2.24356751105837	0.00089	0.003924728	0.00120663441852657	0.08334	0.706548	0.73137	0	0.573888	0.26702	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	2.38	-4.76	0.02994	-1.122000	0.03378	-4.968000	0.01906	-4.097000	0.00043	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1978:0.0:0.8022	9.798	0.39916	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	348.98	72	chr14	104953010	.	C	T	348.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.82;DP=3001;ExcessHet=0.0000;FS=42.401;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.97;MQRankSum=-1.260e+01;QD=1.19;ReadPosRankSum=-1.079e+00;SOR=2.111	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	20	0	1	0
chr14	104953278	104953278	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G1873A:p.V625I	.	.	.	.	.	.	.	.	.	.	.	2296489	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.44	T	0.015	B	0.003	B	.	.	1.000	N	-0.47	N	5.96	T	-0.938	T	0.001	T	0.031	-1.017	0.236	-4.76	-1.567	-1.152	10.472	0.025	0.00941189040353	.	.	9.946e-05	0.0002	0	0	0	3e-05	0	0.0005	3.84e-05	1	26028	rs375468649	3.627e-05	5.267e-05	3.405e-05	3.852e-05	0.0005	2.829e-05	2.566e-05	0.0003	0.0003	0.0005	4.474e-05	0	2.519e-05	0	0.0003	1.799e-05	3.316e-05	0.0001	9.999e-05	0.0002	9.132e-05	0.0001	0.0003	6.092e-05	4.947e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	2.962e-05	0.0005	0.0002	0.851	0.02732	T	1.0	0.01155	T	0.015	0.17086	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.16	0.08945	N	5.96	0.00610	T	-0.18	0.09796	N	0.089	0.06720	-0.9383	0.42885	T	0.001	0.00378	T	9	0.020899057	0.00490	T	0.009412	0.24670	T	0.025	0.05312	.	.	0.0138822411134	0.00435	0.008896432539158694	0.00852	.	.	0.270536154509	0.06211	T	0.016657	0.13724	T	-0.603014	0.00140	T	-0.867296	0.00768	T	0.0116639148668008	0.00178	T	0.311269	0.06060	T	0.008288388	0.00000	0.023823082	0.00396	0.008288388	0.00000	0.023823082	0.00396	-0.623	0.00664	T	.	.	0.059	0.00754	B	.	.	-1.295352	0.00442	0.009	0.27796567708372738	0.01397	0.00202	0.01159	N	AEFBI	.	.	.	-1.7028697703017	0.00832	0.03596444	-1.77038044117227	0.00859	0.03837704	0.00113328056741813	0.08261	0.706548	0.73137	0	0.573888	0.26702	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	2.91	-4.76	0.02994	-4.778000	0.00217	-11.689000	0.00583	-1.443000	0.01102	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4829:0.0:0.5171	10.472	0.43828	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	6049.98	72	chr14	104953278	.	C	T	6049.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.62;DP=2448;ExcessHet=0.0000;FS=0.369;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.92;MQRankSum=-1.276e+00;QD=15.28;ReadPosRankSum=0.544;SOR=0.733	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	20	0	1	0
chr14	104953797	104953797	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G1354A:p.D452N	.	.	411	1040	68	3	0	74	0.0343547	.	.	2807606	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.49	T	0.021	B	0.032	B	.	.	1.000	N	0	N	4.03	T	-0.910	T	0.003	T	0.056	2.719	15.05	-3.51	-1.054	0.094	3.143	0.019	.	0.0069	0.00798722	0.0082	0.0015	0.0071	0	0.0005	0.0101	0.0111	0.0130	0.0078718	1217	154602	rs45448397	0.0073	0.0073	0.0069	0.0077	0.0406	0.0072	0.0071	0.0363	0.0347	0.0022	0.0066	0.0321	7.557e-05	0.0007	0.0406	0.0066	0.0105	0.0137	0.0067	0.0067	0.0067	0.0066	0.0110	0.0063	0.0062	0.0097	0.0092	0.0018	0	0.0110	0.0343	0.0006	0.0006	0.0306	0.0083	0.0114	0.0104	0.842	0.02796	T	0.408	0.14633	T	0.021	0.18474	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	0	0.06538	N	4.03	0.03149	T	-0.08	0.08187	N	0.1	0.08227	-0.9097	0.46891	T	0.003	0.00832	T	9	0.0041176975	0.00081	T	.	.	.	0.019	0.03383	.	.	0.0297737177859	0.01360	0.0316760095331914	0.03116	.	.	0.185123771429	0.00150	T	0.022655	0.17431	T	-0.727118	0.00025	T	-0.8062	0.01752	T	0.00461407943591834	0.00049	T	0.309269	0.05988	T	0.016435066	0.00197	0.024356974	0.00454	0.016435066	0.00197	0.024356974	0.00454	-4.588	0.32020	T	.	.	0.109	0.20934	B	.	.	-0.342790	0.02437	0.277	0.97984752298087319	0.37356	0.08243	0.14197	N	AEFDBI	0.071796	0.14307	N	-1.45363581998287	0.02188	0.09635179	-1.48412917277304	0.02474	0.1138519	0.07631154992444	0.15723	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.96	-3.51	0.04397	-1.192000	0.03161	-2.796000	0.03352	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.105:0.2143:0.4064:0.2743	3.143	0.06076	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4402.11	72	chr14	104953797	.	C	T	4402.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.31;DP=2099;ExcessHet=0.1072;FS=5.847;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=-5.180e-01;SOR=0.884	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	19	0	2	0
chr14	104994748	104994748	G	A	exonic	CLBA1	.	nonsynonymous SNV	CLBA1:NM_174891:exon5:c.G967A:p.D323N,	.	.	411	1096	14	1	0	16	0.00724638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.606	P	0.031	B	0.937	N	1.000	N	0.365	N	.	.	-1.029	T	0.030	T	0.068	0.805	8.234	-0.564	-0.422	-0.072	7.000	0.051	0.00317260751494	8.3e-05	0.000599042	0.0005	0	0.0006	0	0	0.0004	0	0.0016	0.0004722	73	154602	rs200272722	0.0003	0.0003	0.0002	0.0004	0.0062	0.0003	0.0003	0.0046	0.0040	3.085e-05	0.0005	0	0	0	0.0062	0.0002	0.0007	0.0018	0.0003	0.0003	0.0002	0.0003	0.0025	0.0002	0.0002	0.0014	0.0011	2.406e-05	0	0.0004	0	0	9.416e-05	0	0.0003	0.0009	0.0025	0.507	0.08762	T	0.412	0.14456	T	0.606	0.39465	P	0.031	0.21939	B	0.936976	0.08380	N	0.959023	1	0.08975	N	.	.	.	.	.	.	-1.65	0.47008	N	0.059	0.04188	-1.0289	0.20811	T	0.030	0.12804	T	9	0.006056577	0.00136	T	0.003173	0.06936	T	0.051	0.14325	.	.	0.0297737177859	0.01360	0.24883442652854282	0.24797	0.117908866914	0.13276	.	.	.	0.072555	0.34482	T	-0.591096	0.00165	T	-0.646472	0.09203	T	0.014728854302732	0.00307	T	0.536546	0.19140	T	0.059315845	0.12040	0.034095634	0.02415	0.059315845	0.12039	0.034095634	0.02415	-3.299	0.13724	T	.	.	0.145	0.31980	B	.;.;.	.;.;.	0.204959	0.05893	2.333	0.85221806567649572	0.15760	0.05460	0.11339	N	AEFBCI	0.025915	0.01855	N	-0.998479758405893	0.08637	0.4056948	-1.09236291925277	0.07850	0.3835069	0.999396745369358	0.39470	0.651	0.46895	0	0.588066	0.40923	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	3.67	-0.564	0.11185	-0.027000	0.12319	0.989000	0.23179	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.4312:0.0:0.5688:0.0	7.000	0.23982	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1508.98	42	chr14	104994748	.	G	A	1508.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.857;DP=919;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.37;ReadPosRankSum=0.719;SOR=0.743	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr14	105055417	105055417	A	G	exonic	GPR132	.	nonsynonymous SNV	GPR132:NM_013345:exon3:c.T4C:p.C2R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.182	B	0.019	B	0.000	U	1.000	N	0	N	1.34	T	-1.085	T	0.042	T	0.304	-1.315	0.034	-0.838	-0.740	-0.169	.	0.030	0.00680714994305	0.0002	.	4.944e-05	0	0	0	0	5.995e-05	0	0.0001	3.88e-05	6	154602	rs143845743	3.022e-05	3.34e-05	2.446e-05	3.504e-05	0.0005	1.932e-05	1.557e-05	8.497e-05	3.539e-05	0	0	0	0	0	0.0005	2.857e-05	0	0.0001	1.314e-05	1.313e-05	1.284e-05	1.344e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.016	0.51853	D	0.041	0.50514	D	0.182	0.29148	B	0.019	0.18783	B	0.000071	0.00414	U	183.018000	1	0.08975	N	0.55	0.14455	N	1.34	0.34841	T	0.26	0.99623	N	0.268	0.30347	-1.0846	0.06480	T	0.042	0.18243	T	9	0.19615558	0.35495	T	0.006807	0.18010	T	0.030	0.07022	.	.	0.273503213844	0.26977	0.5979190920327322	0.59722	0.788710189345	0.65656	0.45506966114	0.32636	T	0.157466	0.50008	T	-0.345143	0.05039	T	-0.496882	0.22672	T	0.0405103992290852	0.03783	T	0.183282	0.01882	T	0.35600376	0.57530	0.29929122	0.55962	0.35600376	0.57531	0.29929122	0.55961	-2.499	0.05774	T	.	.	0.127	0.26947	B	.;.;.	.;.;.	0.878163	0.12511	9.043	0.18210553696064344	0.00563	0.00770	0.03176	N	AEFBHCI	0.061989	0.11887	N	-1.30588199233667	0.03607	0.1614305	-1.42509723720676	0.03003	0.1392583	0.999854925903717	0.44174	0.67177	0.52595	0	0.702456	0.74545	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	0.419	-0.838	0.10218	-0.149000	0.10189	-1.334000	0.05689	0.550000	0.28109	0.001000	0.13787	0.000000	0.08366	0.012000	0.09680	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2269.98	33	chr14	105055417	.	A	G	2269.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.586;DP=914;ExcessHet=0.0000;FS=0.503;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=0.395;SOR=0.716	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1497	20	0	1	0
chr14	105143063	105143063	G	A	exonic	JAG2	.	nonsynonymous SNV	JAG2:NM_145159:exon25:c.C3235T:p.R1079W	.	.	411	1065	44	2	0	48	0.0220386	.	.	702786	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.9	P	0.271	N	0.813	D	1.59	L	-2.19	D	0.365	D	0.590	D	0.453	3.408	17.51	4.09	2.111	3.638	9.287	0.400	0.550986740197	0.0060	0.00279553	0.0067	0.0011	0.0034	0	0.0039	0.0094	0.0064	0.0063	0.0062742	970	154602	rs34728766	0.0080	0.0079	0.0080	0.0080	0.0094	0.0079	0.0078	0.0086	0.0085	0.0015	0.0042	0.0114	5.04e-05	0.0054	0.0094	0.0087	0.0071	0.0069	0.0059	0.0059	0.0060	0.0057	0.0089	0.0056	0.0054	0.0083	0.0081	0.0013	0.0264	0.0058	0.0115	0	0.0038	0.0205	0.0089	0.0043	0.0058	0.028	0.56456	D	0.021	0.58089	D	0.999	0.77913	D	0.846	0.63913	P	0.271362	0.15121	N	0.648787	0.812943	0.34667	D	2.555	0.74557	M	-2.19	0.86815	D	-4.24	0.76576	D	0.313	0.35938	0.365	0.88568	D	0.590	0.85329	D	10	0.0067113936	0.00152	T	0.550987	0.95860	D	0.400	0.71401	.	.	0.745179119767	0.74288	0.5502876314655247	0.54954	0.714357934396	0.61881	0.666381239891	0.62321	T	0.839	0.96231	D	-0.241819	0.15119	T	-0.110737	0.62553	T	0.0422880266963858	0.04108	T	0.952805	0.83579	D	0.14168425	0.32638	0.1480713	0.35016	0.14168425	0.32637	0.1480713	0.35015	-14.034	0.93583	D	.	.	0.096	0.29724	B	.;.	.;.	5.370889	0.90040	31	0.99901152410059391	0.97275	0.89593	0.50157	D	AEFBI	0.387197	0.46727	N	0.451848610930217	0.64307	4.682385	0.404861936367212	0.61868	4.392977	0.612575134971493	0.21817	0.706548	0.73137	0	0.588015	0.36545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.09	4.09	0.47038	2.345000	0.43675	7.301000	0.58090	0.618000	0.50648	0.586000	0.27634	1.000000	0.68203	0.986000	0.61781	0.1003:0.0:0.8997:0.0	9.287	0.36925	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1301.98	38	chr14	105143063	.	G	A	1301.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.495;DP=896;ExcessHet=0.0000;FS=0.709;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=-7.080e-01;SOR=0.798	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,117,1755	20	0	1	0
chr14	105146471	105146471	G	A	exonic	JAG2	.	nonsynonymous SNV	JAG2:NM_145159:exon21:c.C2509T:p.R837W	.	.	415	1105	2	0	0	2	0.000904159	.	.	3212332	JAG2-related_disorder|not_specified	.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.997	D	0.707	P	0.378	N	1.000	N	1.1	L	-2.14	D	-0.244	T	0.586	D	0.194	2.419	14.05	4.43	2.002	1.361	10.271	0.262	0.339326556561	.	.	0.0002	9.923e-05	8.672e-05	0	0	1.54e-05	0	0.0012	0.0001488	23	154602	rs764784118	0.0001	0.0001	6.404e-05	0.0002	0.0018	0.0001	9.909e-05	0.0016	0.0015	5.975e-05	2.236e-05	0	0	0	0.0002	8.994e-06	9.939e-05	0.0018	3.942e-05	3.94e-05	1.284e-05	6.726e-05	0.0004	1.715e-05	1.129e-05	7.279e-05	3.025e-05	2.412e-05	0	0	0	0	0	0	4.41e-05	0	0.0004	0.015	0.52492	D	0.017	0.60337	D	0.994	0.70673	D	0.513	0.54387	P	0.378069	0.13429	N	0.711686	0.999993	0.08975	N	1.78	0.46185	L	-2.14	0.86415	D	-3.81	0.71882	D	0.345	0.38643	-0.2443	0.76513	T	0.586	0.85127	D	10	0.09262708	0.16326	T	0.339327	0.91971	D	0.262	0.57482	.	.	0.560968441767	0.55758	0.49239059457074763	0.49160	0.582582740408	0.54013	0.235891759396	0.02432	T	0.726423	0.92308	D	-0.330435	0.06080	T	-0.272051	0.47611	T	0.154300095333118	0.17441	T	0.611639	0.34191	T	0.11047998	0.26113	0.10720317	0.25803	0.11047998	0.26113	0.10720317	0.25803	-10.261	0.77037	D	.	.	0.084	0.14706	B	.;.	.;.	4.014515	0.59245	24.1	0.99894729204144783	0.96819	0.18195	0.20159	N	AEFDGBI	0.409618	0.48082	N	-0.0247450052588098	0.40737	2.424403	-0.10692569971223	0.35109	2.02742	0.999386504411615	0.39415	0.67177	0.52595	0	0.588066	0.40923	0	0.645312	0.48771	0	0.711	0.71501	0	.	.	4.43	4.43	0.52967	1.485000	0.35127	2.473000	0.32905	0.614000	0.49286	0.007000	0.17678	0.187000	0.23467	0.340000	0.25432	0.0:0.0:0.6767:0.3233	10.271	0.42662	982	0.03397	VWFC domain|VWFC domain|VWFC domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2849.98	35	chr14	105146471	.	G	A	2849.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.60;DP=920;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.25;ReadPosRankSum=0.171;SOR=0.727	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1198	20	0	1	0
chr14	105392681	105392681	C	T	exonic	PACS2	.	nonsynonymous SNV	PACS2:NM_001243127:exon22:c.C2048T:p.A683V	.	.	427	1079	15	1	0	17	0.00781609	.	.	1157188	not_provided|PACS2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.33	T	0.011	B	0.008	B	0.012	N	1.000	N	0.345	N	0.94	T	-1.054	T	0.050	T	0.093	0.527	6.852	1.67	0.799	0.669	6.193	0.043	0.0113838267332	.	0.000199681	0.0011	0.0003	0.0002	0	0	0.0001	0.0013	0.0070	0.0007827	121	154602	rs587631980	0.0004	0.0004	0.0003	0.0006	0.0058	0.0004	0.0004	0.0054	0.0052	2.988e-05	8.957e-05	0	0	0	0.0031	9.174e-05	0.0005	0.0058	0.0002	0.0002	7.71e-05	0.0004	0.0056	0.0002	0.0002	0.0039	0.0034	0	0	6.536e-05	0	0	0	0.0034	0.0001	0	0.0056	0.31	0.16251	T	0.575	0.13953	T	0.011	0.15914	B	0.003	0.13708	B	0.011582	0.29474	N	0.349478	0.999999	0.20970	N	-0.345	0.03330	N	0.94	0.43672	T	-1.58	0.38151	N	0.175	0.18784	-1.0545	0.13172	T	0.050	0.21417	T	10	0.004993379	0.00107	T	0.011384	0.28946	T	0.043	0.11576	.	.	0.082315109003	0.07666	0.11558417568226456	0.11486	.	.	0.376492708921	0.21758	T	0.092632	0.39045	T	-0.627114	0.00100	T	-0.671248	0.07528	T	0.0351481681706273	0.02834	T	0.288071	0.05188	T	0.028653009	0.02235	0.043809496	0.05536	0.028653009	0.02234	0.043809496	0.05536	-5.529	0.42361	T	0.13492756935295075	0.14620	0.068	0.03515	B	.;.;.;.	.;.;.;.	1.248524	0.16447	12.55	0.98758479898116158	0.45770	0.06551	0.12564	N	AEFBI	0.080184	0.16208	N	-0.9206171464811	0.10360	0.4947208	-0.899932978305083	0.12096	0.620213	0.999924828087517	0.46280	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.0	1.67	0.23149	0.912000	0.28220	1.394000	0.26140	-0.171000	0.11205	0.001000	0.13787	0.001000	0.17328	0.024000	0.12247	0.0:0.6322:0.0:0.3678	6.193	0.19750	970	0.06235	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1567.98	38	chr14	105392681	.	C	T	1567.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.199e+00;DP=795;ExcessHet=0.0000;FS=2.766;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.51;ReadPosRankSum=0.711;SOR=0.777	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1066	20	0	1	0
chr14	105464692	105464692	G	C	exonic	MTA1	.	nonsynonymous SNV	MTA1:NM_004689:exon15:c.G1363C:p.A455P,	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.77	P	0.167	B	0.001	D	1.000	D	0.895	L	1.49	T	-1.106	T	0.043	T	0.588	3.195	16.69	3.16	1.123	1.921	8.361	0.162	0.0563242042316	.	.	9.083e-06	0	9.139e-05	0	0	0	0	0	6.5e-06	1	154602	rs782560865	1.583e-05	1.573e-05	9.57e-06	2.219e-05	2.079e-05	1.054e-05	8.81e-06	1.385e-05	1.156e-05	0	0	0	0	0	0	2.079e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288	0.20683	T	0.317	0.22016	T	0.0	0.02946	B	0.001	0.04355	B	0.000674	0.42516	D	0.247182	0.949321	0.81001	D	0.55	0.14455	N	1.47	0.31987	T	-1.76	0.41618	N	0.368	0.44857	-1.1059	0.03447	T	0.043	0.18326	T	10	0.1855964	0.33987	T	0.056324	0.66563	D	0.162	0.41843	0.262	0.20631	0.46560685065	0.46186	0.7131976196050837	0.71261	0.788002502454	0.65629	0.576582491398	0.49604	T	0.159081	0.50237	T	-0.0786051	0.39941	T	-0.330416	0.41422	T	0.34137162566185	0.26678	T	0.907309	0.71352	D	0.24042809	0.46946	0.19325294	0.42883	0.24042809	0.46946	0.19325294	0.42882	-2.594	0.06458	T	.	.	0.102	0.18037	B	.;.;.;.	.;.;.;.	3.966948	0.58223	24.0	0.99301549626455365	0.58650	0.87591	0.47181	D	AEFBI	0.500186	0.53355	D	-0.141337559902093	0.35604	2.047203	-0.0223074147522009	0.38710	2.28452	0.99630235622063	0.34656	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	5.03	3.16	0.35406	2.066000	0.41078	6.552000	0.55914	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.991000	0.66497	0.2533:0.0:0.7467:0.0	8.361	0.31518	940	0.13648	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2238.98	40	chr14	105464692	.	G	C	2238.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.290e-01;DP=1107;ExcessHet=0.0000;FS=1.304;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.23;ReadPosRankSum=-2.010e-01;SOR=0.712	GT:AD:DP:GQ:PL	0/1:64,83:147:99:2253,0,1636	20	0	1	0
chr14	105488202	105488202	G	C	exonic	CRIP1	.	nonsynonymous SNV	CRIP1:NM_001311:exon3:c.G77C:p.R26P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.001	B	0.015	B	0.000	U	1.000	D	.	.	0.77	T	-1.045	T	0.092	T	0.728	2.363	13.86	2.92	0.997	5.274	9.156	0.215	0.0700217622735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	2.052e-06	0	4.128e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	0	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.16144	T	0.176	0.29843	T	0.001	0.07471	B	0.015	0.17295	B	0.000472	0.44119	U	0.000000	0.999976	0.53665	D	.	.	.	0.77	0.49642	T	-2.81	0.59389	D	0.753	0.76019	-1.0452	0.15767	T	0.092	0.35092	T	9	0.73454267	0.74529	D	0.070022	0.70890	D	0.215	0.50805	0.563	0.68364	0.723293550248	0.72084	0.7339088423068653	0.73335	0.0753709897467	0.08448	0.832615971565	0.86964	D	0.437467	0.78347	T	0.0345338	0.56327	T	-0.188171	0.55762	T	0.967030882835388	0.67776	D	.	.	.	0.47289118	0.65468	0.5442452	0.73657	0.47289118	0.65469	0.5442452	0.73657	-11.984	0.84773	D	.	.	0.926	0.84672	P	.;.;.	.;.;.	4.543140	0.71428	25.7	0.98061587807679795	0.37952	0.83654	0.42757	D	ALL	0.900064	0.84516	D	-0.176752296646181	0.34105	1.942647	-0.0760324129511887	0.36383	2.116687	0.999999999986211	0.74766	0.676563	0.55306	0	0.52208	0.09955	0	0.673471	0.61138	0	0.600526	0.37237	0	.	.	4.76	2.92	0.32998	3.831000	0.55477	9.480000	0.80881	0.575000	0.29119	0.953000	0.33222	1.000000	0.68203	0.970000	0.54328	0.1808:0.0:0.8192:0.0	9.156	0.36155	940	0.13648	Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	483.98	55	chr14	105488202	.	G	C	483.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=762;ExcessHet=0.0000;FS=4.137;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.80;ReadPosRankSum=-5.290e-01;SOR=0.283	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1262	20	0	1	0
chr15	20534458	20534458	C	T	exonic	GOLGA6L6	.	nonsynonymous SNV	GOLGA6L6:NM_001145004:exon8:c.G1976A:p.R659Q,	.	.	.	.	.	.	.	.	.	.	.	3258421	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.86	T	0.066	B	0.001	B	.	.	1.000	N	0.55	N	3.02	T	-0.929	T	0.010	T	0.052	-0.075	3.636	.	0.159	0.061	2.918	0.014	0.00291307773965	.	.	0.0002	0.0025	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs763570485	6.093e-05	7.318e-05	7.065e-05	5.095e-05	0.0018	4.984e-05	4.617e-05	0.0014	0.0012	0.0018	0.0001	0	3.265e-05	0	0	1.948e-05	9.285e-05	1.384e-05	0.0004	0.0007	0.0005	0.0004	0.0015	0.0004	0.0003	0.0012	0.0010	0.0015	0	0.0004	0	0	0	0	3.078e-05	0.0010	0	.	.	.	0.568	0.08870	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.086	0.06322	-0.9288	0.44313	T	0.010	0.03811	T	8	0.009676278	0.00218	T	0.002913	0.06162	T	.	.	.	.	0.0297737177859	0.01360	0.0017871497685102878	0.00165	.	.	0.535874128342	0.43863	T	0.003638	0.03050	T	-0.403301	0.02203	T	-0.81709	0.01512	T	0.00903102671514302	0.00113	T	0.212379	0.02593	T	0.03492898	0.04013	0.053691123	0.09093	0.03492898	0.04013	0.053691123	0.09093	-4.458	0.30335	T	.	.	0.075	0.05404	B	.	.	0.499783	0.08688	5.461	0.43685413079978208	0.03306	0.00098	0.00638	N	AEFI	0.012926	0.00156	N	-1.35232713684295	0.03101	0.1379792	-1.45266475331078	0.02746	0.1268716	1.09772034850553E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-2.181000	0.01342	-5.598000	0.01661	-0.794000	0.03222	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4916:0.508:2.0E-4:2.0E-4	2.918	0.05407	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	454.98	51	chr15	20534458	.	C	T	454.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=899;ExcessHet=0.0000;FS=6.159;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=54.09;MQRankSum=0.503;QD=8.58;ReadPosRankSum=1.73;SOR=0.394	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1281	20	0	1	0
chr15	20534613	20534613	C	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	679.27	87	chr15	20534613	.	C	*,T	679.27	.	AC=7,3;AF=0.175,0.075;AN=40;BaseQRankSum=-3.180e-01;DP=2018;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3332;MLEAC=7,3;MLEAF=0.175,0.075;MQ=54.83;MQRankSum=0.894;QD=0.62;ReadPosRankSum=2.91;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,14,0:81:99:.:.:432,0,2029,651,2114,3003	10	0	7	1
chr15	20534634	20534718	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	0	exonic	GOLGA6L6	.	.	.	.	.	495	631	268	4	124	400	0.179454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	2232.49	67	chr15	20534634	.	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	C,*	2232.49	.	AC=9,5;AF=0.237,0.132;AN=38;BaseQRankSum=1.18;DP=1927;ExcessHet=14.4320;FS=1.229;InbreedingCoeff=-0.5556;MLEAC=10,5;MLEAF=0.263,0.132;MQ=51.48;MQRankSum=1.62;QD=2.28;ReadPosRankSum=-1.960e-01;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:50,0,14:81:99:.:.:432,651,3003,0,2114,2029	5	0	9	2
chr15	20534647	20534647	C	0	exonic	GOLGA6L6	.	.	.	.	.	647	584	57	3	231	294	0.0511779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	649.96	67	chr15	20534647	.	C	*,T	649.96	.	AC=14,2;AF=0.333,0.048;AN=42;BaseQRankSum=0.996;DP=1957;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=14,2;MLEAF=0.333,0.048;MQ=52.26;MQRankSum=0.013;QD=0.62;ReadPosRankSum=0.174;SOR=0.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,14,0:81:99:.:.:432,0,2029,651,2114,3003	5	0	14	0
chr15	20534663	20534663	G	0	exonic	GOLGA6L6	.	.	.	.	.	528	730	36	1	227	265	0.0253672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	276.43	67	chr15	20534663	.	G	GC,*	276.43	.	AC=1,12;AF=0.025,0.300;AN=40;BaseQRankSum=1.27;DP=1702;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4737;MLEAC=1,12;MLEAF=0.025,0.300;MQ=50.51;MQRankSum=-1.904e+00;QD=0.35;ReadPosRankSum=0.00;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:33,6,17:56:99:0|1:20534663_G_*:480,329,1697,0,1134,1461:20534663	7	0	1	1
chr15	20534664	20534665	CT	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	123.44	67	chr15	20534664	.	CT	*,C	123.44	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=1.26;DP=1675;ExcessHet=11.8493;FS=1.307;InbreedingCoeff=-0.4745;MLEAC=12,1;MLEAF=0.300,0.025;MQ=49.82;MQRankSum=0.344;QD=0.15;ReadPosRankSum=0.955;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:56,0,0:56:0:.:.:0,0,805,0,805,805	7	0	12	1
chr15	20534665	20534665	T	-	exonic	GOLGA6L6	.	frameshift deletion	GOLGA6L6:NM_001145004:exon8:c.1769delA:p.E590Gfs*26,	.	.	554	732	222	4	10	240	0.135773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0047	0.0009	0.0012	0.0086	0.0010	0.0010	0.0071	0.0065	0.0013	0.0035	0.0024	0.0086	0.0024	0.0016	0.0007	0.0012	0.0030	0.0013	0.0023	0.0013	0.0012	0.0017	0.0011	0.0010	0.0014	0.0013	0.0007	0	0.0017	0	0.0011	0.0013	0	0.0017	0.0012	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	123.44	67	chr15	20534664	.	CT	*,C	123.44	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=1.26;DP=1675;ExcessHet=11.8493;FS=1.307;InbreedingCoeff=-0.4745;MLEAC=12,1;MLEAF=0.300,0.025;MQ=49.82;MQRankSum=0.344;QD=0.15;ReadPosRankSum=0.955;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:56,0,0:56:0:.:.:0,0,805,0,805,805	7	0	12	1
chr15	20534667	20534686	CCTTATCTTCTCCTCCTGCT	-	exonic	GOLGA6L6	.	frameshift deletion	GOLGA6L6:NM_001145004:exon8:c.1748_1767del:p.K583Rfs*43,	.	.	599	689	226	4	4	238	0.145161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.0047	0.0014	0.0023	0.0079	0.0018	0.0017	0.0061	0.0055	0.0015	0.0036	0.0052	0.0079	0.0051	0.0038	0.0014	0.0019	0.0060	0.0022	0.0042	0.0024	0.0021	0.0035	0.0019	0.0018	0.0022	0.0020	0.0012	0	0.0035	0	0.0027	0.0020	0	0.0028	0.0028	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	115.09	67	chr15	20534666	.	CCCTTATCTTCTCCTCCTGCT	C,*	115.09	.	AC=1,11;AF=0.028,0.306;AN=36;BaseQRankSum=2.35;DP=1656;ExcessHet=10.3454;FS=0.611;InbreedingCoeff=-0.4288;MLEAC=1,12;MLEAF=0.028,0.333;MQ=49.75;MQRankSum=0.586;QD=0.15;ReadPosRankSum=1.51;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:56,0,0:56:0:.:.:0,0,805,0,805,805	6	0	1	3
chr15	20534666	20534686	CCCTTATCTTCTCCTCCTGCT	0	exonic	GOLGA6L6	.	.	.	.	.	599	689	226	4	4	238	0.145161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	115.09	67	chr15	20534666	.	CCCTTATCTTCTCCTCCTGCT	C,*	115.09	.	AC=1,11;AF=0.028,0.306;AN=36;BaseQRankSum=2.35;DP=1656;ExcessHet=10.3454;FS=0.611;InbreedingCoeff=-0.4288;MLEAC=1,12;MLEAF=0.028,0.333;MQ=49.75;MQRankSum=0.586;QD=0.15;ReadPosRankSum=1.51;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:56,0,0:56:0:.:.:0,0,805,0,805,805	6	0	1	3
chr15	20534667	20534667	C	0	exonic	GOLGA6L6	.	.	.	.	.	584	671	32	1	234	268	0.0247093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	276.54	67	chr15	20534667	.	C	*,CA	276.54	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=2.81;DP=1654;ExcessHet=14.4320;FS=0.598;InbreedingCoeff=-0.5273;MLEAC=13,1;MLEAF=0.325,0.025;MQ=49.17;MQRankSum=-1.904e+00;QD=0.32;ReadPosRankSum=0.453;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,17,6:58:99:0|1:20534663_G_*:483,0,1419,338,1218,1790:20534663	6	0	13	1
chr15	20534668	20534670	CTT	0	exonic	GOLGA6L6	.	.	.	.	.	594	661	33	1	233	268	0.0257922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	240.54	67	chr15	20534668	.	CTT	*,C	240.54	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=1.75;DP=1651;ExcessHet=14.4320;FS=0.595;InbreedingCoeff=-0.5273;MLEAC=13,1;MLEAF=0.325,0.025;MQ=49.12;MQRankSum=-1.948e+00;QD=0.28;ReadPosRankSum=1.06;SOR=0.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,17,6:58:99:0|1:20534663_G_*:483,0,1419,338,1218,1790:20534663	6	0	13	1
chr15	20534672	20534672	T	0	exonic	GOLGA6L6	.	.	.	.	.	554	704	31	1	232	265	0.0229008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	204.03	67	chr15	20534672	.	T	*,C	204.03	.	AC=13,1;AF=0.342,0.026;AN=38;BaseQRankSum=1.01;DP=1514;ExcessHet=15.6281;FS=0.000;InbreedingCoeff=-0.5167;MLEAC=14,1;MLEAF=0.368,0.026;MQ=49.17;MQRankSum=-1.240e+00;QD=0.24;ReadPosRankSum=0.861;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,17,4:55:99:0|1:20534663_G_*:486,0,1377,422,1260,1838:20534663	5	0	13	2
chr15	20534676	20534676	C	0	exonic	GOLGA6L6	.	.	.	.	.	520	770	224	4	4	236	0.130926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	169.85	67	chr15	20534676	.	C	T,*	169.85	.	AC=1,12;AF=0.026,0.316;AN=38;BaseQRankSum=2.03;DP=1485;ExcessHet=12.7758;FS=0.000;InbreedingCoeff=-0.4784;MLEAC=1,13;MLEAF=0.026,0.342;MQ=51.07;MQRankSum=-7.020e-01;QD=0.22;ReadPosRankSum=-2.744e+00;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:33,0,0:33:0:.:.:0,0,4,0,4,4	6	0	1	2
chr15	20534684	20534684	G	0	exonic	GOLGA6L6	.	.	.	.	.	520	750	24	2	226	254	0.0183246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	199.87	67	chr15	20534684	.	G	*,A	199.87	.	AC=11,2;AF=0.289,0.053;AN=38;BaseQRankSum=-1.982e+00;DP=1452;ExcessHet=13.8672;FS=0.600;InbreedingCoeff=-0.4791;MLEAC=12,2;MLEAF=0.316,0.053;MQ=47.03;MQRankSum=0.825;QD=0.25;ReadPosRankSum=0.678;SOR=0.780	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:33,0,0:33:0:.:.:0,0,4,0,4,4	6	0	11	2
chr15	20534693	20534693	T	C	exonic	GOLGA6L6	.	nonsynonymous SNV	GOLGA6L6:NM_001145004:exon8:c.A1741G:p.M581V,	.	.	525	772	218	4	3	229	0.127684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.041	B	0.015	B	.	.	1.000	N	0.805	L	3.33	T	-0.935	T	0.009	T	0.033	-1.793	0.010	.	-1.777	-3.985	.	0.008	0.0074203089576	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310726190	0.0007	0.0036	0.0006	0.0008	0.0040	0.0006	0.0006	0.0029	0.0025	0.0012	0.0015	0.0011	0.0040	0.0015	0.0012	0.0005	0.0008	0.0016	0.0010	0.0023	0.0011	0.0010	0.0015	0.0009	0.0008	0.0012	0.0011	0.0005	0	0.0011	0	0.0007	0.0010	0.0046	0.0015	0.0013	0	.	.	.	0.419	0.14158	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.242	0.27316	-0.9348	0.43424	T	0.009	0.03403	T	7	0.029617101	0.01088	T	0.00742	0.19685	T	.	.	.	.	0.0138822411134	0.00435	0.004044001980495092	0.00379	.	.	0.559128940105	0.47145	T	0.012766	0.11161	T	-0.359971	0.04131	T	-0.75485	0.03301	T	0.0197057358900899	0.00672	T	0.435556	0.11926	T	0.18490703	0.39828	0.36883113	0.62165	0.18490703	0.39828	0.36883113	0.62165	-6.123	0.47297	T	.	.	0.138	0.30130	B	.	.	0.552275	0.09206	5.991	0.22101327030199044	0.00873	0.00122	0.00764	N	AEFI	0.026473	0.01994	N	-1.86920376427058	0.00397	0.01706604	-1.98812300616187	0.00324	0.01432719	1.00268384750379E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.142000	0.15917	-1.292000	0.05797	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3158	130.94	67	chr15	20534693	.	T	C,*	130.94	.	AC=1,11;AF=0.026,0.289;AN=38;BaseQRankSum=0.077;DP=1398;ExcessHet=10.3454;FS=0.000;InbreedingCoeff=-0.4428;MLEAC=1,12;MLEAF=0.026,0.316;MQ=47.60;MQRankSum=1.05;QD=0.17;ReadPosRankSum=-2.776e+00;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:33,0,0:33:0:.:.:0,0,4,0,4,4	7	0	1	2
chr15	20534693	20534693	T	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	130.94	67	chr15	20534693	.	T	C,*	130.94	.	AC=1,11;AF=0.026,0.289;AN=38;BaseQRankSum=0.077;DP=1398;ExcessHet=10.3454;FS=0.000;InbreedingCoeff=-0.4428;MLEAC=1,12;MLEAF=0.026,0.316;MQ=47.60;MQRankSum=1.05;QD=0.17;ReadPosRankSum=-2.776e+00;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:33,0,0:33:0:.:.:0,0,4,0,4,4	7	0	1	2
chr15	20534697	20534697	C	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	53.17	67	chr15	20534697	.	C	T,*	53.17	.	AC=1,11;AF=0.026,0.289;AN=38;BaseQRankSum=1.89;DP=1389;ExcessHet=10.3454;FS=0.000;InbreedingCoeff=-0.4609;MLEAC=1,12;MLEAF=0.026,0.316;MQ=46.42;MQRankSum=0.821;QD=0.07;ReadPosRankSum=-2.438e+00;SOR=0.750	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:33,0,0:33:0:.:.:0,0,4,0,4,4	7	0	1	2
chr15	20534699	20534705	CCTCCTG	0	exonic	GOLGA6L6	.	.	.	.	.	504	770	47	2	199	250	0.0320553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	1634.86	67	chr15	20534699	.	CCTCCTG	*,C	1634.86	.	AC=10,4;AF=0.263,0.105;AN=38;BaseQRankSum=-1.160e+00;DP=1326;ExcessHet=15.6281;FS=0.000;InbreedingCoeff=-0.5547;MLEAC=11,4;MLEAF=0.289,0.105;MQ=42.46;MQRankSum=-1.014e+00;QD=2.12;ReadPosRankSum=0.176;SOR=0.747	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:33,0,0:33:0:.:.:0,0,4,0,4,4	5	0	10	2
chr15	20534803	20534823	TCCTCCTGCTCCTGCCTCTTC	-	exonic	GOLGA6L6	.	nonframeshift deletion	GOLGA6L6:NM_001145004:exon8:c.1611_1631del:p.E537_E543del,	.	.	528	989	5	0	0	5	0.00252143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0	0	0	0	0.0023	0	0.0019	0.0001552	24	154602	rs774371640	0.0011	0.0007	0.0009	0.0013	0.0126	0.0010	0.0010	0.0087	0.0074	0.0004	0.0015	0.0054	0	0	0.0126	0.0008	0.0020	0.0036	0.0025	0.0023	0.0022	0.0028	0.0036	0.0020	0.0018	0.0027	0.0024	0.0004	0	0.0022	0.0093	0	0	0.0208	0.0036	0.0042	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	238.72	25	chr15	20534802	.	ATCCTCCTGCTCCTGCCTCTTC	A	238.72	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.470e-01;DP=512;ExcessHet=0.0000;FS=1.808;InbreedingCoeff=-0.0521;MLEAC=1;MLEAF=0.026;MQ=45.46;MQRankSum=-1.594e+00;QD=11.37;ReadPosRankSum=-3.090e-01;SOR=0.774	GT:AD:DP:GQ:PL	0/0:20,0:20:59:0,59,666	18	0	1	2
chr15	20534940	20534942	CTC	-	exonic	GOLGA6L6	.	nonframeshift deletion	GOLGA6L6:NM_001145004:exon8:c.1492_1494del:p.E498del,	.	.	425	1086	9	2	0	13	0.00594966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0.0025	0	0	0.0010	0	0.0001	7.68e-05	2	26028	rs776701213	0.0006	0.0009	0.0005	0.0007	0.0022	0.0006	0.0006	0.0019	0.0018	0.0001	0.0001	0.0054	2.867e-05	0.0004	0.0020	0.0004	0.0008	0.0022	0.0008	0.0013	0.0007	0.0010	0.0019	0.0007	0.0007	0.0010	0.0008	0.0002	0	0.0006	0.0071	0	9.8e-05	0	0.0010	0.0015	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1180.94	42	chr15	20534939	.	TCTC	T	1180.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.180e-01;DP=1040;ExcessHet=0.0000;FS=5.935;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.96;MQRankSum=-2.747e+00;QD=14.58;ReadPosRankSum=2.99;SOR=0.520	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1271	20	0	1	0
chr15	20535254	20535254	G	A	exonic	GOLGA6L6	.	nonsynonymous SNV	GOLGA6L6:NM_001145004:exon8:c.C1180T:p.R394C,	.	.	660	857	5	0	0	5	0.00290867	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.993	D	0.718	P	.	.	0.987	N	1.04	L	2.99	T	-1.030	T	0.031	T	0.223	-0.537	1.560	.	0.149	0.530	.	0.036	.	.	.	0.0220	0	0	0	.	0.0340	0	0.0241	0.0001153	3	26028	rs753318256	0.0104	0.0097	0.0101	0.0106	0.0155	0.0102	0.0101	0.0121	0.0118	0.0017	0.0041	0.0167	3.058e-05	0.0093	0.0155	0.0113	0.0124	0.0129	0.0035	0.0039	0.0036	0.0035	0.0049	0.0032	0.0031	0.0043	0.0041	0.0010	0.0166	0.0018	0.0061	0	0.0042	0	0.0049	0.0036	0.0048	.	.	.	0.216	0.26226	T	.	.	.	.	.	.	.	.	.	.	0.98661	0.24600	N	.	.	.	.	.	.	.	.	.	0.134	0.13055	-1.0302	0.20390	T	0.031	0.13286	T	7	0.0040552616	0.00079	T	.	.	.	.	.	.	.	0.136095386433	0.13204	0.0010305415930272075	0.00095	.	.	0.543417036533	0.44928	T	0.008543	0.07834	T	-0.216291	0.18501	T	-0.548463	0.17474	T	0.013754574758509	0.00258	T	0.370263	0.08727	T	0.063925505	0.13510	0.0942307	0.22294	0.063925505	0.13509	0.0942307	0.22294	-5.7	0.43694	T	.	.	0.213	0.44122	B	.	.	2.164793	0.27584	17.51	0.51490358097531141	0.04572	0.00860	0.03421	N	AEFI	0.042385	0.06571	N	-0.577418607764664	0.19632	1.028985	-0.848704842727349	0.13319	0.6902728	1.11164203910733E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-0.367000	0.07607	-3.333000	0.02868	0.201000	0.17923	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	1000	0.00083	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	90.98	10	chr15	20535254	.	G	A	90.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.52;DP=543;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=36.16;MQRankSum=1.05;QD=9.10;ReadPosRankSum=-1.210e+00;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:10,0:10:30:.:.:0,30,325	20	0	1	0
chr15	20535305	20535305	G	A	exonic	GOLGA6L6	.	stopgain	GOLGA6L6:NM_001145004:exon8:c.C1129T:p.Q377X,	.	.	544	975	3	0	0	3	0.0015361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	2.901	15.67	.	0.149	2.579	.	.	.	.	0.00399361	0.0141	0.0132	0	0	.	0.0190	0	0	0.0002264	35	154602	rs28665153	0.0116	0.0086	0.0119	0.0114	0.0276	0.0114	0.0113	0.0260	0.0253	0.0028	0.0276	0.0098	6.092e-05	0.0105	0.0063	0.0126	0.0125	0.0076	0.0051	0.0052	0.0051	0.0052	0.0125	0.0048	0.0046	0.0106	0.0099	0.0014	0	0.0125	0.0042	0	0.0074	0	0.0059	0.0038	0.0018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.026	0.00527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297858	0.82796	D	0.190076	0.82574	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.266607	0.64883	24.8	0.97797846699532709	0.36046	0.16310	0.19329	N	AEFI	0.023047	0.01233	N	-0.0666653307467699	0.38862	2.282634	-0.489650941295436	0.22437	1.21871	6.47089315873219E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-0.058000	0.11707	-3.322000	0.02877	0.201000	0.17923	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	218.98	27	chr15	20535305	.	G	A	218.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.243e+00;DP=773;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=33.09;MQRankSum=-2.780e-01;QD=7.30;ReadPosRankSum=1.11;SOR=0.627	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:30,0:30:90:.:.:0,90,1180	20	0	1	0
chr15	20535566	20535566	T	G	exonic	GOLGA6L6	.	nonsynonymous SNV	GOLGA6L6:NM_001145004:exon8:c.A868C:p.M290L,	.	.	717	801	3	1	0	5	0.00311139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.006	B	0.013	B	.	.	1.000	N	-1.2	N	3.38	T	-0.902	T	0.006	T	0.162	-0.079	3.612	.	0.138	0.031	.	0.017	0.00276783507213	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1283446308	0.0067	0.0077	0.0070	0.0065	0.0075	0.0065	0.0064	0.0073	0.0072	0.0012	0.0027	0.0103	0.0003	0.0161	0.0032	0.0075	0.0071	0.0029	0.0055	0.0072	0.0049	0.0062	0.0071	0.0051	0.0050	0.0065	0.0063	0.0014	0	0.0032	0.0099	0.0007	0.0156	0	0.0071	0.0042	0.0025	.	.	.	0.776	0.04387	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.131	0.12627	-0.9024	0.47739	T	0.006	0.01870	T	7	0.059972256	0.07292	T	0.002768	0.05752	T	.	.	.	.	0.0138822411134	0.00435	0.002622390550778858	0.00243	.	.	0.604738354683	0.53573	T	0.00539	0.04841	T	-0.257914	0.13145	T	-0.608252	0.12128	T	0.0178337748839643	0.00511	T	0.452355	0.12822	T	0.16286546	0.36390	0.27117288	0.53015	0.16286546	0.36390	0.27117288	0.53014	-6.484	0.50163	T	.	.	0.148	0.32709	B	.	.	0.080666	0.04866	1.458	0.48054578006326931	0.03979	0.00041	0.00340	N	AEFI	0.015313	0.00286	N	-1.35286778156856	0.03095	0.1377298	-1.35194689727277	0.03783	0.177173	1.16283787847553E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-2.991000	0.00721	0.501000	0.18995	-1.844000	0.00578	0.000000	0.06391	0.031000	0.21272	0.003000	0.05239	.	.	.	1000	0.00083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	34.98	17	chr15	20535566	.	T	G	34.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.484;DP=407;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0247;MLEAC=1;MLEAF=0.024;MQ=24.92;MQRankSum=-1.162e+00;QD=1.52;ReadPosRankSum=0.731;SOR=0.061	GT:AD:DP:GQ:PL	0/0:17,0:17:51:0,51,686	20	0	1	0
chr15	20535676	20535676	G	A	exonic	GOLGA6L6	.	nonsynonymous SNV	GOLGA6L6:NM_001145004:exon8:c.C758T:p.A253V,	.	.	903	606	10	3	0	16	0.0130293	.	.	2331833	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.27	T	0.185	B	0.072	B	.	.	1.000	N	1.04	L	3.21	T	-0.969	T	0.013	T	0.055	-1.350	0.029	.	-1.573	-0.329	.	0.057	0.00135336302404	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1302792346	0.0073	0.0097	0.0064	0.0081	0.0242	0.0071	0.0070	0.0230	0.0226	0.0017	0.0031	0.0423	0.0021	6.566e-05	0.0099	0.0050	0.0081	0.0242	0.0052	0.0045	0.0051	0.0054	0.0223	0.0049	0.0047	0.0178	0.0162	0.0012	0.0260	0.0062	0.0504	0.0027	0	0.0055	0.0043	0.0071	0.0223	.	.	.	0.165	0.30926	T	.	.	.	.	.	.	.	.	.	.	0.999969	0.18878	N	.	.	.	.	.	.	.	.	.	0.025	0.00485	-0.9685	0.37510	T	0.013	0.05129	T	7	0.06213656	0.07898	T	0.001353	0.01936	T	.	.	.	.	0.0297737177859	0.01360	0.002610010390796344	0.00242	.	.	0.495142906904	0.38151	T	0.012942	0.11287	T	-0.388247	0.02761	T	-0.795466	0.02018	T	0.00822341605707464	0.00098	T	0.440756	0.12177	T	0.034567785	0.03903	0.09967183	0.23806	0.034567785	0.03903	0.09967183	0.23806	-4.904	0.35780	T	.	.	0.142	0.31253	B	.	.	-0.558998	0.01687	0.122	0.39597292329315309	0.02742	0.00189	0.01098	N	AEFI	0.017556	0.00468	N	-1.55047642574625	0.01532	0.06689154	-1.68353583424012	0.01212	0.05457186	5.21244997230675E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-5.508000	0.00140	-0.222000	0.10754	-3.581000	0.00074	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	382.71	2	chr15	20535676	.	G	A	382.71	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.030;DP=193;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0922;MLEAC=2;MLEAF=0.048;MQ=28.39;MQRankSum=-7.840e-01;QD=5.10;ReadPosRankSum=0.985;SOR=0.724	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,41	19	0	2	0
chr15	20845872	20845872	T	C	exonic	POTEB;POTEB2	.	nonsynonymous SNV	POTEB2:NM_001277303:exon9:c.A1259G:p.N420S	.	.	436	962	122	2	0	126	0.0614634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1023	0.1962	0.1486	0.1165	0.0769	0.0872	0.0804	0.0657	0.0592295	9157	154602	rs79335648	8.749e-05	6.598e-05	5.516e-05	0.0001	0.0007	4.714e-05	3.515e-05	0.0001	4.787e-05	0	0.0007	0	0.0004	0	0	8.064e-05	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.305	0.14256	T	0.839	0.03621	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	2.32	0.16640	T	-0.63	0.18459	N	0.008	0.00068	.	.	.	.	.	.	.	0.0018360615	0.00025	T	.	.	.	.	.	.	.	.	.	0.006055757321101937	0.00574	1.56174073802	0.88049	0.741252064705	0.73158	T	0.003477	0.02879	T	-0.366787	0.03760	T	-0.76464	0.02949	T	.	.	.	0.39826	0.10085	T	0.023043897	0.01012	0.036473703	0.03101	0.023043897	0.01012	0.036473703	0.03101	-3.291	0.13621	T	.	.	0.079	0.07412	B	.	.	-0.426343	0.02115	0.200	0.31482124279507218	0.01776	0.00335	0.01744	N	AEFI	0.024797	0.01593	N	.	.	.	.	.	.	1.07113283285327E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.4	-2.79	0.05494	-0.085000	0.11215	-10.088000	0.00741	-0.694000	0.04098	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.2288:0.3611:0.0:0.4101	2.473	0.04291	1000	0.00083	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.04762	1949.11	33	chr15	20845872	.	T	C	1949.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.838;DP=1793;ExcessHet=0.1072;FS=0.702;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=38.76;MQRankSum=-4.150e-01;QD=1.73;ReadPosRankSum=1.15;SOR=0.596	GT:AD:DP:GQ:PL	0/1:457,86:543:99:733,0,13098	19	0	2	0
chr15	21652117	21652117	A	C	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.A234C:p.L78F,	.	.	465	768	265	24	0	313	0.169281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.738e-06	0.0002	4.777e-06	8.48e-06	8.749e-05	1.79e-06	5e-07	.	.	8.749e-05	0	7.657e-05	0	0	0	3.89e-06	0	0	8.705e-06	0.0001	0	1.8e-05	3.488e-05	0	0	.	.	3.488e-05	0	0	0	0	0	0	0	0	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	0.000108	0.50451	N	0.000000	0.99988	0.19925	P	.	.	.	.	.	.	.	.	.	0.182	0.19728	-1.0434	0.16294	T	0.000	0.00011	T	9	0.0018065572	0.00024	T	.	.	.	.	.	0.381	0.39807	.	.	0.040043207446890695	0.03950	.	.	0.311506986618	0.12134	T	.	.	.	-0.674746	0.00051	T	-0.598182	0.12964	T	0.00326191471079691	0.00034	T	0.287271	0.05164	T	.	.	.	.	.	.	.	.	-0.124	0.00396	T	.	.	0.073	0.04599	B	.;.	.;.	0.850845	0.12232	8.774	0.66924304402247636	0.08201	0.00687	0.02939	N	AEI	.	.	.	-1.62473285776486	0.01146	0.04979641	-1.44264627457213	0.02837	0.1312614	5.3174549639366E-4	0.07248	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.24	2.28	0.27583	-1.083000	0.03507	-0.079000	0.12201	-0.781000	0.03322	0.002000	0.15269	0.160000	0.23254	0.175000	0.21139	0.3717:0.6283:0.0:0.0	9.685	0.39261	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	7981.03	35	chr15	21652117	.	A	C	7981.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=1.67;DP=1245;ExcessHet=1.7912;FS=1.131;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=28.20;MQRankSum=-5.080e-01;QD=11.27;ReadPosRankSum=0.254;SOR=0.597	GT:AD:DP:GQ:PL	0/1:34,48:82:99:1165,0,768	15	0	6	0
chr15	21652190	21652190	C	T	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.C307T:p.L103F,	.	.	442	748	311	21	0	353	0.190914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.129e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.389e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.283	0.21478	T	.	.	.	.	.	.	0.261126	0.15312	N	0.485335	0.999366	0.21303	P	.	.	.	.	.	.	.	.	.	0.103	0.08646	-0.9711	0.36967	T	0.000	0.00011	T	9	0.0015220642	0.00017	T	.	.	.	.	.	.	.	.	.	0.030007910357616414	0.02949	.	.	0.290178626776	0.08949	T	.	.	.	-0.66378	0.00060	T	-0.582431	0.14328	T	0.000522953042824942	0.00004	T	0.540346	0.18307	T	.	.	.	.	.	.	.	.	-5.352	0.40455	T	.	.	0.093	0.14062	B	.;.	.;.	1.025571	0.14055	10.62	0.93500601886041435	0.23307	0.07624	0.13632	N	AEFCI	.	.	.	-0.844437362999696	0.12186	0.5925257	-0.887036193530605	0.12400	0.6376486	3.35547801273524E-4	0.06583	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	0.085	0.13749	-0.579000	0.05927	-1.581000	0.05125	0.268000	0.18485	0.000000	0.06391	0.000000	0.08366	0.409000	0.26983	0.0:0.3722:0.2141:0.4137	3.269	0.06470	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	13026.03	35	chr15	21652190	.	C	T	13026.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=4.04;DP=1982;ExcessHet=1.7912;FS=3.181;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=32.24;MQRankSum=-2.000e-03;QD=11.47;ReadPosRankSum=0.342;SOR=0.777	GT:AD:DP:GQ:PL	0/1:58,68:126:99:1663,0,1339	15	0	6	0
chr15	21652283	21652283	G	C	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.G400C:p.V134L,	.	.	444	742	317	19	0	355	0.19304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1277263862	0.0001	0.0001	8.806e-05	0.0001	0.0006	8.456e-05	7.79e-05	0.0003	0.0002	0.0006	0.0002	0	0	0	0	9.504e-05	0.0002	9.725e-05	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	0.0008	0	0.0003	0	0	0	0	6.04e-05	0.0020	0	.	.	.	0.136	0.34009	T	.	.	.	.	.	.	0.000469	0.44119	D	0.000000	1	0.08975	P	.	.	.	.	.	.	.	.	.	0.218	0.24385	-0.8916	0.48793	T	0.000	0.00011	T	9	0.001629144	0.00019	T	.	.	.	.	.	0.312	0.28612	.	.	0.07580462846120836	0.07516	.	.	0.250244468451	0.03793	T	.	.	.	-0.532543	0.00371	T	-0.393918	0.34092	T	0.031530545555236	0.02231	T	0.857714	0.54741	D	.	.	.	.	.	.	.	.	-5.754	0.44172	T	.	.	0.162	0.35767	B	.;.	.;.	2.487917	0.32091	18.94	0.99194466592430841	0.55083	0.14978	0.18683	N	AEFHCI	.	.	.	-0.187369143140256	0.33660	1.91217	-0.318033235840288	0.27516	1.527408	0.00464552456930878	0.10654	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	2.26	0.27418	2.575000	0.45689	1.571000	0.27417	0.299000	0.18918	0.133000	0.23395	0.004000	0.18990	0.984000	0.60418	0.2721:0.0:0.7279:0.0	5.367	0.15423	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	18653.03	35	chr15	21652283	.	G	C	18653.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=0.441;DP=1829;ExcessHet=1.7912;FS=3.282;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=32.90;MQRankSum=-5.490e-01;QD=18.62;ReadPosRankSum=0.182;SOR=0.487	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,69:117:99:0|1:21652283_G_C:2672,0,1788:21652283	15	0	6	0
chr15	21652290	21652290	C	A	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.C407A:p.A136D,	.	.	445	758	303	16	0	335	0.180983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325108497	7.359e-05	0.0001	5.407e-05	9.171e-05	0.0002	5.914e-05	5.388e-05	9.719e-05	7.073e-05	4.42e-05	0.0002	0	0	0	0	7.582e-05	0.0001	6.801e-05	8.658e-05	0.0002	7.449e-05	9.95e-05	0.0003	4.464e-05	3.34e-05	7.618e-05	4.051e-05	7.641e-05	0	0.0003	0	0	0	0	2.089e-05	0.0021	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000167	0.48594	D	0.000000	0.0199557	0.39625	P	.	.	.	.	.	.	.	.	.	0.631	0.64478	-0.9692	0.37366	T	0.000	0.00114	T	9	0.002110511	0.00030	T	.	.	.	.	.	.	.	.	.	0.4398908667552438	0.43906	.	.	0.395352125168	0.24421	T	.	.	.	-0.179371	0.23830	T	0.113389	0.77796	D	0.0805372903841944	0.10055	T	0.976052	0.91638	D	.	.	.	.	.	.	.	.	-13.572	0.91582	D	.	.	0.411	0.60193	A	.;.	.;.	4.705929	0.75548	26.4	0.99729135027837246	0.82619	0.93345	0.57969	D	AEFHCI	.	.	.	0.668177313905204	0.77549	6.696248	0.481736136598001	0.66782	4.996887	0.99991764154766	0.45857	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	3.2	0.35826	4.696000	0.61460	5.281000	0.48180	0.268000	0.18485	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	12.276	0.54051	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	18491.03	35	chr15	21652290	.	C	A	18491.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-6.300e-01;DP=1815;ExcessHet=1.7912;FS=3.262;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=32.87;MQRankSum=-4.920e-01;QD=18.57;ReadPosRankSum=0.519;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,67:114:99:0|1:21652283_G_C:2626,0,1772:21652283	15	0	6	0
chr15	22080637	22080637	A	G	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.A13G:p.N5D,	.	.	1026	484	8	4	0	16	0.0162602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.98	D	0.915	D	0.000	D	0.870	N	3.665	H	4.43	T	-1.122	T	0.018	T	0.088	2.889	15.62	2.5	1.167	5.303	8.582	0.135	.	0.0082	.	0.0119	0.0349	0.0090	0	0.0041	0.0134	0.0091	0.0025	0.0098705	1526	154602	rs111484216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.56192	D	0.98	0.59353	D	0.915	0.65091	D	0.000114	0.50451	D	0.000000	0.87046	0.28215	N	2.895	0.83812	M	.	.	.	.	.	.	0.111	0.09772	-1.1218	0.02221	T	0.018	0.07518	T	10	0.0040432215	0.00079	T	.	.	.	.	.	.	.	.	.	0.07997864277807154	0.07932	.	.	.	.	.	0.033863	0.23088	T	-0.5922	0.00163	T	-0.604507	0.12435	T	0.055267436674093	0.06401	T	0.643236	0.25495	T	0.10142145	0.23956	0.17873825	0.40562	0.10142145	0.23956	0.17873825	0.40562	-8.976	0.67542	D	.	.	0.170	0.37274	B	.	.	4.391943	0.67793	25.1	0.99724402241935428	0.82266	0.90083	0.50987	D	AEFGBCI	0.574722	0.57739	D	0.574802962569376	0.71604	5.676308	0.399994223797025	0.61564	4.35835	0.991497242129926	0.32508	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	2.5	0.29355	3.058000	0.49632	8.721000	0.78162	0.334000	0.19664	0.992000	0.37556	1.000000	0.68203	0.469000	0.28319	1.0:0.0:0.0:0.0	8.582	0.32798	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.1111	1867.53	14	chr15	22080637	.	A	G	1867.53	.	AC=4;AF=0.111;AN=36;BaseQRankSum=0.106;DP=478;ExcessHet=0.0113;FS=0.000;InbreedingCoeff=0.3866;MLEAC=5;MLEAF=0.139;MQ=33.98;MQRankSum=1.58;QD=13.73;ReadPosRankSum=0.310;SOR=0.487	GT:AD:DP:GQ:PL	./.	15	1	2	3
chr15	22081006	22081006	C	T	exonic	OR4M2	.	stopgain	OR4M2:NM_001004719:exon1:c.C382T:p.R128X,	.	.	672	794	37	19	0	75	0.0450992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	4.605	25.1	2.5	1.422	1.584	6.679	.	.	0.0185	0.0505192	0.0325	0.0296	0.0345	0.1538	0.0218	0.0204	0.0453	0.0219	0.0290876	4497	154602	rs78256866	0	3.064e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000185	0.48115	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.009	0.00081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0937667	0.63611	D	0.448766	0.93547	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.792551	0.95741	35	0.99832391884684535	0.91370	0.47264	0.27944	N	AEFDGBCI	0.235043	0.35770	N	0.608319707800418	0.73699	6.009183	0.352040610194453	0.58631	4.034739	0.523553565198187	0.21116	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	2.5	0.29355	0.566000	0.23296	-0.743000	0.07611	0.271000	0.18527	0.000000	0.06391	0.000000	0.08366	0.632000	0.32210	0.2821:0.7179:0.0:0.0	6.679	0.22300	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.025	1425.71	34	chr15	22081006	.	C	T	1425.71	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-4.049e+00;DP=1192;ExcessHet=0.0000;FS=4.201;InbreedingCoeff=-0.0422;MLEAC=1;MLEAF=0.025;MQ=46.35;MQRankSum=-1.004e+01;QD=2.56;ReadPosRankSum=6.48;SOR=0.518	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,29	19	0	1	1
chr15	22081181	22081181	G	A	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.G557A:p.R186Q,	.	.	560	917	36	9	0	54	0.0286017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.027	B	0.025	B	0.000	D	0.982	N	0.5	N	8.76	T	-0.965	T	0.000	T	0.171	1.919	12.37	2.5	1.422	0.388	5.349	0.070	.	0.0133	.	0.0323	0.0299	0.0344	0.1519	0.0218	0.0203	0.0453	0.0218	0.0104119	271	26028	rs112370472	1.583e-05	2.596e-05	3.436e-05	0	2.738e-05	2.63e-06	9.9e-07	4.54e-06	1.7e-06	0	0	0	0	0	0	2.738e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.48594	D	0.027	0.19556	B	0.025	0.20508	B	0.000336	0.45700	D	0.000000	0.982304	0.24974	N	0.43	0.12624	N	.	.	.	.	.	.	0.066	0.03841	-0.9654	0.38132	T	0.000	0.00011	T	10	0.0017219782	0.00022	T	.	.	.	.	.	.	.	.	.	0.23905920919614257	0.23819	.	.	.	.	.	0.006572	0.05999	T	-0.615257	0.00118	T	-0.63492	0.10044	T	0.0208086093620371	0.00781	T	0.630337	0.24523	T	0.07212918	0.16020	0.11710262	0.28269	0.07212918	0.16020	0.11710262	0.28268	-4.671	0.33051	T	.	.	0.086	0.10931	B	.	.	3.124930	0.42199	21.5	0.99834674602958939	0.91628	0.06708	0.12729	N	AEFGBCI	.	.	.	-0.580585229479446	0.19534	1.023148	-0.517038118105351	0.21690	1.17457	0.978852491937488	0.29965	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	2.5	0.29355	0.173000	0.16538	0.158000	0.15372	0.303000	0.18983	0.000000	0.06391	0.000000	0.08366	0.977000	0.56843	0.1658:0.0:0.8342:0.0	5.349	0.15328	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	142.15	29	chr15	22081181	.	G	A	142.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.16;DP=783;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0322;MLEAC=1;MLEAF=0.024;MQ=30.99;MQRankSum=-2.145e+00;QD=1.48;ReadPosRankSum=0.223;SOR=0.668	GT:AD:DP:GQ:PL	0/0:19,0:19:57:0,57,651	20	0	1	0
chr15	22081228	22081228	A	T	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.A604T:p.S202C,	.	.	521	957	35	9	0	53	0.0269446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.981	D	0.000	D	0.587	D	0.845	L	8.71	T	-0.364	T	0.000	T	0.239	2.501	14.32	2.5	1.167	0.693	8.582	0.117	.	0.0173	.	0.0323	0.0301	0.0344	0.1521	0.0218	0.0204	0.0453	0.0219	0.0273541	4229	154602	rs79101657	0	4.097e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	0.999	0.77913	D	0.981	0.75168	D	0.000013	0.62929	D	0.000000	0.586907	0.32422	D	0.905	0.23240	L	.	.	.	.	.	.	0.076	0.05037	-0.3640	0.73144	T	0.000	0.00011	T	10	0.0023354292	0.00034	T	.	.	.	.	.	.	.	.	.	0.30315144890699713	0.30228	.	.	.	.	.	0.008564	0.07859	T	-0.564254	0.00239	T	-0.561659	0.16222	T	0.0384421845010854	0.03411	T	0.861714	0.55578	D	0.20311423	0.42378	0.24912716	0.50477	0.20311423	0.42378	0.24912716	0.50476	-4.232	0.27212	T	.	.	0.121	0.25067	B	.	.	3.854838	0.55867	23.7	0.98295364329275925	0.39992	0.26930	0.23134	N	AEFGBCI	.	.	.	-0.00935321865655644	0.41431	2.478048	-0.133010117939739	0.34069	1.955644	0.986907717140307	0.31148	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	2.5	0.29355	0.364000	0.20053	3.314000	0.37488	0.334000	0.19664	0.000000	0.06391	0.013000	0.20296	0.777000	0.36790	1.0:0.0:0.0:0.0	8.582	0.32798	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	172.15	35	chr15	22081228	.	A	T	172.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.084e+00;DP=850;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0322;MLEAC=1;MLEAF=0.024;MQ=29.56;MQRankSum=-2.068e+00;QD=1.64;ReadPosRankSum=-1.222e+00;SOR=0.778	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L,	.	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.001	N	1.000	P	-3.045	N	8.91	T	-0.972	T	0.000	T	0.111	-2.796	0	0.487	-0.314	-1.168	6.210	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.875	49876.32	41	chr15	22081297	.	T	C	49876.32	.	AC=35;AF=0.875;AN=40;BaseQRankSum=9.54;DP=2745;ExcessHet=0.0454;FS=83.218;InbreedingCoeff=0.3143;MLEAC=36;MLEAF=0.900;MQ=39.56;MQRankSum=-1.124e+01;QD=20.13;ReadPosRankSum=0.928;SOR=4.411	GT:AD:DP:GQ:PL	1/1:0,96:96:99:3088,289,0	1	16	3	1
chr15	22495646	22495646	T	A	exonic	HERC2	.	unknown	UNKNOWN,	Mental retardation, autosomal recessive 38, Autosomal recessive	.	573	931	18	0	0	18	0.00957447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs780482888	0.0028	0.0050	0.0025	0.0029	0.0077	0.0026	0.0026	0.0071	0.0069	0.0013	0.0011	0.0010	0	0.0005	0.0070	0.0027	0.0032	0.0077	0.0038	0.0061	0.0040	0.0035	0.0144	0.0035	0.0034	0.0113	0.0102	0.0027	0	0.0038	0.0006	0.0005	0.0004	0	0.0047	0.0038	0.0144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	111.98	9	chr15	22495646	.	T	A	111.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.096e+00;DP=406;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0249;MLEAC=1;MLEAF=0.024;MQ=26.70;MQRankSum=-1.343e+00;QD=6.22;ReadPosRankSum=-5.310e-01;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:30,0:30:90:.:.:0,90,795	20	0	1	0
chr15	22495649	22495649	A	G	exonic	HERC2	.	unknown	UNKNOWN,	Mental retardation, autosomal recessive 38, Autosomal recessive	.	570	934	18	0	0	18	0.00954401	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs756601246	0.0027	0.0050	0.0025	0.0028	0.0084	0.0026	0.0025	0.0069	0.0066	0.0012	0.0011	0.0010	0	0.0005	0.0084	0.0026	0.0031	0.0074	0.0038	0.0061	0.0040	0.0036	0.0143	0.0035	0.0034	0.0111	0.0100	0.0027	0	0.0038	0.0006	0.0005	0.0003	0	0.0048	0.0038	0.0143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	111.99	10	chr15	22495649	.	A	G	111.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.681e+00;DP=401;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0253;MLEAC=1;MLEAF=0.024;MQ=26.70;MQRankSum=-1.343e+00;QD=6.22;ReadPosRankSum=-6.380e-01;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:30,0:30:90:.:.:0,90,795	20	0	1	0
chr15	22543017	22543017	T	C	exonic	HERC2	.	unknown	UNKNOWN,	Mental retardation, autosomal recessive 38, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.988	D	.	.	.	.	.	.	.	.	-0.381	T	0.285	T	.	0.960	8.917	2.35	1.080	1.940	9.248	0.210	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs774912336	3.213e-06	5.011e-06	1.613e-06	4.801e-06	5.368e-05	7.5e-07	5.1e-07	1.753e-05	1.044e-05	0	0	0	0	0	0	0	0	5.368e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	31.53	463	chr15	22543017	.	T	C	31.53	.	AC=2;AF=0.063;AN=32;DP=463;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.8818;MLEAC=1;MLEAF=0.031;MQ=25.00;QD=15.76;SOR=0.693	GT:AD:DP:GQ:PL	0/0:29,0:29:81:0,81,1215	15	1	0	5
chr15	22557078	22557078	C	T	exonic	HERC2	.	unknown	UNKNOWN,	Mental retardation, autosomal recessive 38, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs414268	0.0002	0.0015	0.0002	0.0002	0.0019	0.0002	0.0002	0.0015	0.0014	0.0019	0.0007	0.0001	0	0	0.0003	0.0002	0.0002	5.112e-05	2.981e-05	0.0003	2.899e-05	3.069e-05	7.638e-05	9.97e-06	5.7e-06	9.88e-06	3.69e-06	5.964e-05	0	7.638e-05	0	0	0	0	1.59e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	66.46	548	chr15	22557078	.	C	T	66.46	.	AC=2;AF=0.059;AN=34;DP=548;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.9373;MLEAC=1;MLEAF=0.029;MQ=24.51;QD=22.15;SOR=2.833	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	16	1	0	4
chr15	22573085	22573085	G	A	exonic	HERC2	.	unknown	UNKNOWN,	Mental retardation, autosomal recessive 38, Autosomal recessive	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs749521198	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	3.829e-05	0.0001	9.363e-05	0.0002	0.0002	0.0002	1.161e-05	8.541e-05	9.192e-05	0.0001	6.723e-05	0.0001	4.957e-05	3.962e-05	6.284e-05	4.3e-05	0.0001	0	0	0	0	0	0	8.82e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1962.98	37	chr15	22573085	.	G	A	1962.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.854;DP=1883;ExcessHet=0.0000;FS=0.703;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.13;MQRankSum=5.40;QD=16.22;ReadPosRankSum=0.220;SOR=0.794	GT:AD:DP:GQ:PL	0/0:135,0:135:99:0,120,1800	20	0	1	0
chr15	22607629	22607629	C	T	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon19:c.G1810A:p.V604M,	.	.	448	1047	27	0	0	27	0.0127298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	.	.	.	.	.	.	.	.	.	.	2.15	T	-1.008	T	0.049	T	0.216	-0.033	3.846	0.829	-0.212	1.658	3.264	0.061	0.000205736360255	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201794505	0.0074	0.0094	0.0074	0.0074	0.0123	0.0073	0.0072	0.0104	0.0102	0.0082	0.0109	0.0099	0.0047	0.0024	0.0123	0.0071	0.0079	0.0110	0.0082	0.0100	0.0085	0.0079	0.0132	0.0078	0.0077	0.0106	0.0096	0.0096	0.0266	0.0081	0.0099	0.0064	0.0019	0.0240	0.0078	0.0079	0.0132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	699.98	38	chr15	22607629	.	C	T	699.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.030;DP=769;ExcessHet=0.0000;FS=1.096;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=46.60;MQRankSum=-1.250e+00;QD=13.73;ReadPosRankSum=0.457;SOR=0.458	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1102	20	0	1	0
chr15	22607710	22607710	A	G	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon19:c.T1729C:p.C577R,	.	.	444	1070	8	0	0	8	0.00372439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	.	.	.	.	.	.	.	.	.	.	2.02	T	-1.005	T	0.038	T	0.245	-1.038	0.209	-0.212	-0.048	0.648	3.130	0.025	0.000278837205708	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs575226800	0.0008	0.0017	0.0008	0.0008	0.0036	0.0007	0.0007	0.0030	0.0028	0.0036	0.0010	0.0004	0.0001	2.707e-05	0.0005	0.0007	0.0010	0.0008	0.0015	0.0022	0.0015	0.0016	0.0032	0.0014	0.0013	0.0028	0.0026	0.0032	0	0.0017	0	0.0002	0.0001	0	0.0010	0.0011	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	41.98	38	chr15	22607710	.	A	G	41.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.540e-01;DP=502;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=29.63;MQRankSum=0.787;QD=1.45;ReadPosRankSum=0.664;SOR=0.693	GT:AD:DP:GQ:PL	0/0:29,0:29:81:0,81,1215	20	0	1	0
chr15	22607800	22607800	C	G	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon18:c.G1723C:p.D575H,	.	.	422	1046	50	4	0	58	0.0269767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1440398018	0.0008	0.0030	0.0006	0.0010	0.0050	0.0007	0.0007	0.0046	0.0044	0.0001	0.0012	0.0003	0.0005	0.0007	0.0003	0.0005	0.0006	0.0050	0.0021	0.0058	0.0020	0.0022	0.0033	0.0019	0.0018	0.0026	0.0023	0.0014	0	0.0033	0.0018	0.0031	0.0024	0	0.0023	0.0027	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	57.54	15	chr15	22607800	.	C	G	57.54	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.260e+00;DP=297;ExcessHet=0.0000;FS=13.222;InbreedingCoeff=-0.0460;MLEAC=1;MLEAF=0.025;MQ=23.66;MQRankSum=-1.981e+00;QD=5.75;ReadPosRankSum=0.00;SOR=3.223	GT:AD:DP:GQ:PL	0/0:26,0:26:72:0,72,1021	19	0	1	1
chr15	22613406	22613406	A	G	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon7:c.T455C:p.M152T,	.	.	488	1031	3	0	0	3	0.00145278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.93	P	0.649	P	.	.	.	.	.	.	2.64	T	-1.014	T	0.030	T	0.375	0.629	7.383	-0.211	-0.051	0.376	3.147	0.073	0.000305791545959	.	.	.	.	.	.	.	.	.	.	.	.	.	rs776013478	0.0004	0.0003	0.0003	0.0004	0.0014	0.0003	0.0003	0.0011	0.0011	0.0001	5.918e-05	0	2.995e-05	0.0004	0.0007	0.0003	0.0005	0.0014	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	0	0	0	0.0002	0.0004	0	0.0002	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	520.0	41	chr15	22613406	.	A	G	520.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.303e+00;DP=906;ExcessHet=0.0000;FS=6.515;InbreedingCoeff=-0.0259;MLEAC=1;MLEAF=0.024;MQ=27.67;MQRankSum=0.121;QD=7.12;ReadPosRankSum=0.797;SOR=1.005	GT:AD:DP:GQ:PL	0/0:60,0:60:99:0,120,1800	20	0	1	0
chr15	22768275	22768275	C	0	exonic	GOLGA6L7	.	.	.	.	.	1270	216	4	27	5	63	0.118367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5455	544.05	2	chr15	22768275	.	C	G,*	544.05	.	AC=8,4;AF=0.364,0.182;AN=22;BaseQRankSum=1.14;DP=74;ExcessHet=0.1935;FS=1.619;InbreedingCoeff=0.2348;MLEAC=12,6;MLEAF=0.545,0.273;MQ=53.08;MQRankSum=-9.670e-01;QD=15.11;ReadPosRankSum=-9.900e-02;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2,0:2:6:1|1:22768275_C_G:52,6,0,57,6,71:22768275	3	3	2	10
chr15	22768297	22768297	A	0	exonic	GOLGA6L7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	115.02	2	chr15	22768297	.	A	C,*	115.02	.	AC=1,4;AF=0.033,0.133;AN=30;BaseQRankSum=0.00;DP=69;ExcessHet=0.0840;FS=0.000;InbreedingCoeff=0.1846;MLEAC=2,5;MLEAF=0.067,0.167;MQ=52.92;MQRankSum=-5.240e-01;QD=6.77;ReadPosRankSum=-1.282e+00;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:2,0,0:2:6:.:.:0,6,42,6,42,42	11	0	1	6
chr15	22768302	22768302	T	0	exonic	GOLGA6L7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2353	314.45	2	chr15	22768302	.	T	G,TCATCTGCTCCTCCTGCTCCCCCATCTGCTCCTCCTGCTTCCG,*	314.45	.	AC=1,3,4;AF=0.029,0.088,0.118;AN=34;BaseQRankSum=0.967;DP=71;ExcessHet=0.0602;FS=1.808;InbreedingCoeff=0.2297;MLEAC=1,3,4;MLEAF=0.029,0.088,0.118;MQ=50.65;MQRankSum=-5.240e-01;QD=12.58;ReadPosRankSum=-1.282e+00;SOR=0.610	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:2,0,0,0:2:4:0|1:22768275_C_G:0,4,48,4,48,48,4,48,48,48:22768275	11	0	1	4
chr15	22768324	22768365	CATCTGCTCCTCCTGCTTCCGCATCTGCTCCTCCTGCTCCCA	-	exonic	GOLGA6L7	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0055	0.0042	0.0037	0.0050	0.0036	0.0035	0.0044	0.0042	0.0027	0.0068	0.0035	0.0046	0.0007	0.0052	0	0.0050	0.0027	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	123.41	1	chr15	22768323	.	CCATCTGCTCCTCCTGCTTCCGCATCTGCTCCTCCTGCTCCCA	C	123.41	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.431;DP=69;ExcessHet=0.1190;FS=4.771;InbreedingCoeff=-0.1169;MLEAC=2;MLEAF=0.053;MQ=54.96;MQRankSum=0.674;QD=30.85;ReadPosRankSum=-9.670e-01;SOR=2.258	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:2,0:2:4:0|1:22768275_C_G:0,4,48:22768275	17	0	2	2
chr15	22769367	22769367	T	C	exonic	GOLGA6L7	.	unknown	UNKNOWN,	.	.	777	727	2	7	9	25	0.0108844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1327727541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0062	0.0066	0.0062	0.0062	0.0150	0.0057	0.0056	0.0135	0.0130	0.0150	0.0021	0.0058	0.0068	0.0008	0.0008	0	0.0028	0.0050	0.0150	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	174.63	3	chr15	22769367	.	T	C,*	174.63	.	AC=2,5;AF=0.056,0.139;AN=36;BaseQRankSum=-9.670e-01;DP=125;ExcessHet=0.0107;FS=1.882;InbreedingCoeff=0.2868;MLEAC=2,5;MLEAF=0.056,0.139;MQ=57.17;MQRankSum=1.28;QD=6.47;ReadPosRankSum=1.01;SOR=0.780	GT:AD:DP:GQ:PL	0/0:8,0,0:8:24:0,24,201,24,201,201	13	0	2	3
chr15	22769367	22769367	T	0	exonic	GOLGA6L7	.	.	.	.	.	777	727	2	7	9	25	0.0108844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	174.63	3	chr15	22769367	.	T	C,*	174.63	.	AC=2,5;AF=0.056,0.139;AN=36;BaseQRankSum=-9.670e-01;DP=125;ExcessHet=0.0107;FS=1.882;InbreedingCoeff=0.2868;MLEAC=2,5;MLEAF=0.056,0.139;MQ=57.17;MQRankSum=1.28;QD=6.47;ReadPosRankSum=1.01;SOR=0.780	GT:AD:DP:GQ:PL	0/0:8,0,0:8:24:0,24,201,24,201,201	13	0	2	3
chr15	22770740	22770740	T	-	exonic	GOLGA6L7	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0	0	0.0004	0	0.0002	4.44e-05	0.0003	0.0004	0.0005	0.0004	0.0004	0.0006	0.0003	0.0003	0.0004	0.0004	0.0001	0	0.0003	0	0	0.0004	0	0.0006	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	187.1	13	chr15	22770739	.	CT	C	187.1	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=211;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0345;MLEAC=1;MLEAF=0.024;MQ=58.41;MQRankSum=0.703;QD=23.39;ReadPosRankSum=2.37;SOR=1.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:8,0:8:24:.:.:0,24,230	20	0	1	0
chr15	22770742	22770761	CTCCTGCTCCCGCATCTGCT	-	exonic	GOLGA6L7	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0002	0.0003	0.0003	0.0005	0.0003	0.0002	0.0003	0.0002	0.0003	0.0005	0	0	0.0004	0	0.0003	6.594e-05	0.0005	0.0007	0.0007	0.0007	0.0006	0.0011	0.0005	0.0005	0.0006	0.0005	0.0004	0	0.0011	0	0	0.0006	0	0.0007	0.0008	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04167	188.31	14	chr15	22770741	.	CCTCCTGCTCCCGCATCTGCT	C	188.31	.	AC=1;AF=0.042;AN=24;BaseQRankSum=0.439;DP=209;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.1789;MLEAC=2;MLEAF=0.083;MQ=58.84;MQRankSum=0.508;QD=20.92;ReadPosRankSum=2.37;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:8,0:8:24:.:.:0,24,230	11	0	1	9
chr15	22866228	22866228	C	T	exonic	NIPA2	.	nonsynonymous SNV	NIPA2:NM_001008894:exon5:c.C407T:p.A136V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	3.235	M	-2.76	D	0.959	D	0.889	D	0.952	4.931	28.6	5.65	2.824	9.731	20.096	0.933	0.0320281212041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.419	0.10083	T	0.433	0.13872	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.49	0.89145	D	-2.57	0.59389	D	0.814	0.81360	.	.	.	.	.	.	.	0.79253083	0.78785	D	.	.	.	.	.	.	.	.	.	0.9763907044085185	0.97629	.	.	.	.	.	0.692902	0.91087	D	.	.	.	.	.	.	.	.	.	0.945605	0.81930	D	.	.	.	.	.	.	.	.	-8.214	0.62519	D	0.21806053216336704	0.29358	0.239	0.51041	B	.;.;.;.;.	.;.;.;.;.	4.584010	0.72443	25.8	.	.	.	.	.	.	0.919429	0.88994	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.842000	0.85116	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	.	.	.	748	0.52143	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1434.98	38	chr15	22866228	.	C	T	1434.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.358e+00;DP=814;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.49;ReadPosRankSum=-5.250e-01;SOR=0.620	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr15	22918704	22918704	T	G	exonic	CYFIP1	.	nonsynonymous SNV	CYFIP1:NM_001324125:exon11:c.A1148C:p.N383T	.	.	418	1103	1	0	0	1	0.000453104	.	.	3420032	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.24	T	0.992	D	0.987	D	0.000	D	1.000	D	1.1	L	1.83	T	-1.068	T	0.113	T	0.194	3.307	17.12	5.71	2.174	9.127	15.178	0.177	0.00581308170436	.	.	0.0001	0	0.0013	0	0	0	0	0	9.7e-05	15	154602	rs202236334	5.794e-05	5.891e-05	5.685e-05	5.905e-05	0.0016	4.772e-05	4.389e-05	0.0008	0.0006	6.138e-05	7.372e-05	0	0	0	0.0016	5.469e-05	8.457e-05	4.897e-05	3.287e-05	3.284e-05	3.856e-05	2.692e-05	6.547e-05	1.261e-05	7.98e-06	1.972e-05	1.125e-05	0	0	6.547e-05	0	0	0	0	5.882e-05	0	0	.	.	.	0.865	0.03361	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.849	0.84505	.	.	.	.	.	.	.	0.7585194	0.76166	D	.	.	.	.	.	.	.	.	.	0.9451156385437264	0.94493	.	.	.	.	.	0.122969	0.44700	T	.	.	.	.	.	.	.	.	.	0.905509	0.66687	D	.	.	.	.	.	.	.	.	-2.857	0.08720	T	.	.	0.186	0.40164	B	.;.	.;.	3.948324	0.57820	23.9	.	.	.	.	.	.	0.935007	0.92922	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.852000	0.85247	7.928000	0.74873	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	.	.	.	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	608.98	33	chr15	22918704	.	T	G	608.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.479;DP=738;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.69;ReadPosRankSum=-2.480e-01;SOR=0.646	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1259	20	0	1	0
chr15	23005548	23005548	C	A	exonic	TUBGCP5	.	nonsynonymous SNV	TUBGCP5:NM_001102610:exon19:c.G2596T:p.V866F	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.0	B	0.001	B	0.011	N	1.000	N	0.345	N	1.89	T	-1.047	T	0.031	T	0.182	0.872	8.534	-5.25	-0.909	-0.251	4.763	0.008	0.00393600373392	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs199994530	8.551e-05	8.551e-05	7.487e-05	9.625e-05	0.0009	7.312e-05	6.815e-05	0.0003	0.0002	0.0002	4.472e-05	0.0002	0	0	0.0009	7.914e-05	6.623e-05	0.0002	6.573e-05	6.567e-05	6.425e-05	6.727e-05	0.0001	3.518e-05	2.617e-05	5.843e-05	4.24e-05	4.828e-05	0	0	0	0	0	0	0.0001	0	0	.	.	.	0.041	0.50809	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.21580	.	.	.	.	.	.	.	0.08687106	0.14808	T	.	.	.	.	.	.	.	.	.	0.6988809629853047	0.69829	.	.	.	.	.	0.02034	0.16033	T	.	.	.	.	.	.	.	.	.	0.784022	0.42156	T	.	.	.	.	.	.	.	.	-4.405	0.29625	T	.	.	0.074	0.04889	B	.;.	.;.	-0.437033	0.02079	0.192	.	.	.	.	.	.	0.062001	0.11892	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.393000	0.07366	-0.490000	0.08866	-0.217000	0.08171	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	.	.	.	768	0.49510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1664.98	33	chr15	23005548	.	C	A	1664.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.030e-01;DP=894;ExcessHet=0.0000;FS=2.583;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.72;ReadPosRankSum=-5.000e-03;SOR=0.512	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1388	20	0	1	0
chr15	23361304	23361304	G	A	exonic	GOLGA8H;GOLGA8S	.	nonsynonymous SNV	GOLGA8S:NM_001355465:exon11:c.G319A:p.G107R,	.	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00439297	0.0034	0.0004	0	0	0	9.848e-05	0.0036	0.0234	0.0009989	26	26028	rs546433515	0.0015	0.0014	0.0007	0.0024	0.0223	0.0015	0.0015	0.0214	0.0211	3.431e-05	0	0	0	0	0.0012	2.641e-05	0.0010	0.0223	0.0008	0.0008	0.0003	0.0013	0.0241	0.0007	0.0006	0.0205	0.0191	2.455e-05	0	0	0	0	9.509e-05	0	4.451e-05	0	0.0241	0.07	0.35349	T	0.35	0.17478	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.55	0.89561	D	-4.34	0.76822	D	0.192	0.21056	.	.	.	.	.	.	.	0.0061352253	0.00138	T	.	.	.	.	.	.	.	0.925817630216	0.92506	0.19431389580278977	0.19349	1.71108777163	0.90440	.	.	.	.	.	.	-0.167173	0.25664	T	-0.290098	0.45763	T	.	.	.	0.686731	0.29555	T	0.19442175	0.41191	0.2157385	0.46174	0.19442175	0.41191	0.2157385	0.46173	-4.343	0.28775	T	.	.	0.262	0.49654	B	.	.	1.726841	0.21980	15.43	0.96498416706865209	0.30034	0.18815	0.20414	N	AEFI	0.055452	0.10170	N	.	.	.	.	.	.	1.96434856265206E-4	0.05898	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.83	0.83	0.17990	3.904000	0.56038	2.430000	0.32726	0.328000	0.19510	0.992000	0.37556	0.056000	0.21938	0.001000	0.02609	0.0:0.0:1.0:0.0	7.631	0.27410	988	0.01987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	817.98	51	chr15	23361304	.	G	A	817.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.82;DP=1086;ExcessHet=0.0000;FS=4.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.26;MQRankSum=-7.900e-02;QD=10.49;ReadPosRankSum=0.899;SOR=1.296	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1254	20	0	1	0
chr15	23361381	23361381	G	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	.	434	682	98	9	299	415	0.0783784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	3501.0	88	chr15	23361381	.	G	A,*	3501.0	.	AC=3,8;AF=0.071,0.190;AN=42;BaseQRankSum=-1.903e+00;DP=1729;ExcessHet=7.7275;FS=0.553;InbreedingCoeff=-0.3548;MLEAC=3,8;MLEAF=0.071,0.190;MQ=58.26;MQRankSum=0.843;QD=2.89;ReadPosRankSum=1.65;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0,0:45:99:.:.:0,105,1575,105,1575,1575	10	0	3	0
chr15	23361385	23361385	C	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	.	439	690	139	1	253	394	0.0927022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3879.31	36	chr15	23361385	.	C	*,G	3879.31	.	AC=7,4;AF=0.167,0.095;AN=42;BaseQRankSum=-6.440e-01;DP=1602;ExcessHet=2.2868;FS=1.792;InbreedingCoeff=-0.1085;MLEAC=7,4;MLEAF=0.167,0.095;MQ=56.41;MQRankSum=-1.962e+00;QD=3.42;ReadPosRankSum=2.34;SOR=0.546	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0,0:45:99:.:.:0,105,1575,105,1575,1575	11	0	6	0
chr15	23363224	23363224	G	C	exonic	GOLGA8H;GOLGA8S	.	nonsynonymous SNV	GOLGA8S:NM_001355465:exon13:c.G600C:p.M200I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000886254932137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.079e-06	2.73e-06	4.453e-06	0	3.475e-06	0	0	.	.	0	0	0	0	0	0	3.475e-06	0	0	0	1.325e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.357	0.12032	T	0.186	0.28860	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.0	0.21473	T	-1.58	0.38151	N	0.211	0.23506	.	.	.	.	.	.	.	0.14648822	0.27772	T	8.86E-4	0.00800	T	.	.	.	.	0.688244838956	0.68557	0.1269078769848915	0.12616	0.689296291096	0.60477	.	.	.	.	.	.	-0.205274	0.20049	T	-0.532639	0.19023	T	.	.	.	0.585741	0.21356	T	0.059359826	0.12056	0.058446903	0.10801	0.059359826	0.12055	0.058446903	0.10800	-4.361	0.29023	T	.	.	0.580	0.68061	P	.	.	1.305179	0.17078	12.94	0.66669864729899508	0.08127	0.07419	0.13438	N	AEFI	0.045628	0.07484	N	.	.	.	.	.	.	1.78607056915729E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.848	0.848	0.18105	-0.115000	0.10713	0.140000	0.15159	0.328000	0.19510	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.0:1.0:0.0	5.168	0.14423	988	0.01987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	54.38	13	chr15	23363224	.	G	C	54.38	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-3.897e+00;DP=216;ExcessHet=0.0000;FS=6.284;InbreedingCoeff=-0.0283;MLEAC=1;MLEAF=0.025;MQ=23.79;MQRankSum=2.62;QD=3.20;ReadPosRankSum=-9.060e-01;SOR=0.020	GT:AD:DP:GQ:PL	0/0:11,0:11:30:0,30,450	19	0	1	1
chr15	23364400	23364400	C	A	exonic	GOLGA8H;GOLGA8S	.	nonsynonymous SNV	GOLGA8S:NM_001355465:exon15:c.C766A:p.Q256K,	.	.	48	1435	31	2	6	41	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00481352493947	.	0.00299521	0.0033	0.0060	0.0025	0.0011	0.0026	0.0038	0.0069	0.0018	0.0028137	435	154602	rs190023905	0.0018	0.0029	0.0017	0.0019	0.0181	0.0018	0.0017	0.0152	0.0141	0.0021	0.0015	0.0135	0.0006	0.0021	0.0181	0.0015	0.0025	0.0015	0.0015	0.0024	0.0015	0.0015	0.0016	0.0013	0.0013	0.0013	0.0012	0.0003	0	0.0016	0.0135	0.0012	0.0019	0.0207	0.0015	0.0010	0.0013	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.57	0.89692	D	-0.18	0.09796	N	0.184	0.19995	.	.	.	.	.	.	.	0.004205942	0.00084	T	0.004814	0.12035	T	.	.	.	.	0.86273415683	0.86140	0.3669056785769498	0.36604	0.763659519793	0.64390	.	.	.	.	.	.	-0.305839	0.08119	T	-0.231107	0.51665	T	.	.	.	0.476552	0.14308	T	0.04579843	0.07558	0.04903152	0.07407	0.04579843	0.07558	0.04903152	0.07407	-3.619	0.18132	T	.	.	0.075	0.05668	B	.	.	0.292315	0.06685	3.189	0.58087947744829294	0.05914	0.28105	0.23462	N	AEFCI	0.187209	0.31450	N	.	.	.	.	.	.	1.42962172204828E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	0.83	-0.343	0.12004	0.830000	0.27115	1.532000	0.27166	0.278000	0.18600	1.000000	0.71638	0.003000	0.18671	0.001000	0.02609	0.0:0.7074:0.2926:0.0	6.797	0.22917	988	0.01987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	654.98	84	chr15	23364400	.	C	A	654.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.26;DP=1736;ExcessHet=0.0000;FS=2.740;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.17;MQRankSum=-9.641e+00;QD=2.36;ReadPosRankSum=0.263;SOR=0.647	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1251	20	0	1	0
chr15	23364437	23364437	G	A	exonic	GOLGA8H;GOLGA8S	.	nonsynonymous SNV	GOLGA8S:NM_001355465:exon15:c.G803A:p.C268Y,	.	.	42	1469	11	0	0	11	0.00373008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000819823101942	.	.	0.0011	0	0.0031	0	0	0.0013	0.0023	0.0003	0.0002689	7	26028	rs772641651	0.0006	0.0007	0.0006	0.0006	0.0113	0.0006	0.0006	0.0090	0.0082	0.0005	0.0027	0.0093	0	0	0.0113	0.0003	0.0014	0.0003	0.0007	0.0007	0.0006	0.0008	0.0014	0.0006	0.0005	0.0009	0.0008	9.637e-05	0	0.0014	0.0098	0	0	0.0102	0.0005	0.0028	0.0006	0.094	0.31383	T	0.299	0.20422	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.05	0.20664	T	-4.38	0.77143	D	0.272	0.30800	.	.	.	.	.	.	.	0.010099173	0.00226	T	8.2E-4	0.00670	T	.	.	.	.	0.612370560561	0.60925	0.3608783859840835	0.36001	2.31666214769	0.96604	.	.	.	.	.	.	-0.460625	0.00975	T	-0.438424	0.28985	T	.	.	.	0.528747	0.17479	T	0.09308459	0.21855	0.2032041	0.44386	0.09308459	0.21855	0.2032041	0.44385	-2.686	0.07186	T	.	.	0.154	0.34138	B	.	.	1.016869	0.13964	10.52	0.64266670372720747	0.07446	0.02243	0.06504	N	AEFCI	0.042528	0.06610	N	.	.	.	.	.	.	2.70654832665272E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	0.848	-0.456	0.11581	4.691000	0.61424	5.059000	0.47069	-0.594000	0.04639	1.000000	0.71638	0.502000	0.25210	0.001000	0.02609	0.7483:0.0:0.2517:0.0	4.115	0.09548	988	0.01987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2319.98	84	chr15	23364437	.	G	A	2319.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.769e+00;DP=1548;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.04;MQRankSum=3.34;QD=10.00;ReadPosRankSum=-6.050e-01;SOR=0.679	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1251	20	0	1	0
chr15	23364999	23364999	G	C	exonic	GOLGA8H;GOLGA8S	.	nonsynonymous SNV	GOLGA8S:NM_001355465:exon18:c.G1104C:p.E368D,	.	.	422	1092	6	2	0	10	0.00455789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00371159515772	.	.	0.0014	0	0.0060	0	0	0.0015	0	0	0.0001552	24	154602	rs768769016	0.0006	0.0006	0.0006	0.0006	0.0088	0.0006	0.0006	0.0065	0.0057	0.0006	0.0028	0.0094	0	0	0.0088	0.0003	0.0014	0.0003	0.0007	0.0007	0.0007	0.0008	0.0014	0.0006	0.0006	0.0009	0.0008	0.0001	0	0.0014	0.0097	0	0	0.0109	0.0005	0.0036	0.0007	0.049	0.39820	D	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.76	0.25996	T	-2.1	0.47852	N	0.224	0.25130	.	.	.	.	.	.	.	0.009682506	0.00218	T	0.003712	0.08589	T	.	.	.	.	0.423836183345	0.42003	0.04018051843152434	0.03964	2.66104356415	0.98468	.	.	.	.	.	.	-0.654749	0.00068	T	-0.717269	0.04929	T	.	.	.	0.818018	0.47523	T	0.058084384	0.11641	0.06752141	0.13980	0.058084384	0.11641	0.06752141	0.13980	-4.2	0.26751	T	.	.	0.170	0.37407	B	.	.	1.233965	0.16288	12.44	0.80868612052640343	0.13408	0.03828	0.09172	N	AEFI	0.038102	0.05342	N	.	.	.	.	.	.	1.45447823611377E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.678	0.678	0.17136	0.171000	0.16497	-0.355000	0.09716	-0.718000	0.03832	0.452000	0.26581	0.000000	0.08366	0.003000	0.05239	0.0:0.0:1.0:0.0	5.110	0.14136	988	0.01987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1181.98	32	chr15	23364999	.	G	C	1181.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.477e+00;DP=834;ExcessHet=0.0000;FS=4.205;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=37.64;MQRankSum=-6.900e-02;QD=13.91;ReadPosRankSum=-9.000e-03;SOR=1.157	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1620	20	0	1	0
chr15	23439859	23439859	-	TCATCTCCTCCTGCCCCCACATCT	exonic	GOLGA6L2	.	nonframeshift insertion	GOLGA6L2:NM_001304388:exon8:c.2615_2616insAGATGTGGGGGCAGGAGGAGATGA:p.G871_D872insEDVGAGGD,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.311e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	.	1.26e-05	0.0002	8.773e-06	1.653e-05	7.721e-05	7.68e-06	6.27e-06	3.269e-05	2.217e-05	3.234e-05	2.885e-05	0	0	3.039e-05	0	6.641e-06	1.78e-05	7.721e-05	7.693e-05	0.0002	4.966e-05	0.0001	0.0001	2.039e-05	1.065e-05	2.185e-05	8.79e-06	7.46e-05	0	0	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04167	205.09	95	chr15	23439859	.	A	ATCATCTCCTCCTGCCCCCACATCT	205.09	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-3.800e-02;DP=1800;ExcessHet=0.0000;FS=3.408;InbreedingCoeff=-0.1507;MLEAC=2;MLEAF=0.083;MQ=59.66;MQRankSum=-1.733e+00;QD=5.40;ReadPosRankSum=1.65;SOR=1.345	GT:AD:DP:GQ:PL	./.:114,0:114:0:0,0,2574	11	0	1	9
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	47381.92	167	chr15	23440492	.	C	*,T	47381.92	.	AC=19,19;AF=0.452,0.452;AN=42;BaseQRankSum=1.77;DP=3542;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=19,19;MLEAF=0.452,0.452;MQ=58.25;MQRankSum=-4.110e-01;QD=13.88;ReadPosRankSum=0.477;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,92,105:197:99:1|0:23440436_T_C:7037,3463,4271,3763,0,3444:23440436	0	0	2	0
chr15	23440520	23440540	TCTCCTCCTGCTCCCGCATCA	-	exonic	GOLGA6L2	.	nonframeshift deletion	GOLGA6L2:NM_001304388:exon8:c.1935_1955del:p.D645_G651del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1392523635	9.782e-06	8.127e-06	9.937e-06	9.632e-06	2.7e-06	4.95e-06	3.61e-06	4.5e-07	1.7e-07	0	0	0	0	0.0002	0	2.7e-06	0	0	6.621e-06	6.59e-06	0	1.354e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	836.94	154	chr15	23440519	.	TTCTCCTCCTGCTCCCGCATCA	T	836.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=2752;ExcessHet=0.0000;FS=1.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.77;MQRankSum=-2.144e+00;QD=4.76;ReadPosRankSum=0.391;SOR=0.924	GT:AD:DP:GQ:PL	0/0:160,0:160:99:0,120,1800	20	0	1	0
chr15	23441117	23441117	C	T	exonic	GOLGA6L2	.	nonsynonymous SNV	GOLGA6L2:NM_001304388:exon8:c.G1358A:p.R453Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.036	B	0.006	B	.	.	1.000	N	.	.	2.91	T	-1.018	T	0.052	T	0.103	-0.755	0.802	.	-0.437	0.346	.	0.016	0.00458136986888	.	.	6.799e-05	0.0013	0	0	0	0	0	0	1.29e-05	2	154602	rs752171828	1.377e-05	1.577e-05	1.574e-05	1.175e-05	0.0001	8.81e-06	7.1e-06	3.849e-05	2.283e-05	0	0	0	0.0001	0	0	1.306e-05	1.74e-05	0	2.032e-05	5.336e-05	2.647e-05	1.388e-05	5.088e-05	5.4e-06	2.5e-06	8.43e-06	3.15e-06	5.088e-05	0	0	0	0	0	0	1.488e-05	0	0	0.327	0.13262	T	0.411	0.20615	T	0.036	0.20732	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-2.01	0.85468	D	-0.93	0.24898	N	0.095	0.09631	-1.0177	0.24463	T	0.052	0.22076	T	6	0.037001103	0.02028	T	0.004581	0.11315	T	0.016	0.02506	0.234	0.16305	0.178374595973	0.17440	0.319120271615477	0.31825	0.0139416977925	0.01327	0.502914607525	0.39233	T	0.008402	0.22626	T	-0.180393	0.23677	T	-0.496899	0.22670	T	0.0319821159996843	0.02303	T	0.463154	0.19484	T	0.10911229	0.25798	0.12122207	0.29249	0.10911229	0.25798	0.12122207	0.29248	-4.219	0.27026	T	.	.	0.089	0.12276	B	.;.	.;.	0.389145	0.07609	4.269	0.46516666077135271	0.03732	0.00054	0.00410	N	AEFBI	0.019354	0.00664	N	-1.27658935244671	0.03959	0.1778184	-1.42436568336465	0.03010	0.1396001	1.94554029895454E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	.	.	.	-0.297000	0.08312	.	.	-1.549000	0.00965	0.000000	0.06391	.	.	0.000000	0.00833	.	.	.	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	793.98	64	chr15	23441117	.	C	T	793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.349;DP=1692;ExcessHet=0.0000;FS=1.868;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.98;MQRankSum=-1.424e+00;QD=10.31;ReadPosRankSum=0.999;SOR=0.876	GT:AD:DP:GQ:PL	0/0:97,0:97:99:0,120,1800	20	0	1	0
chr15	23644873	23644873	C	A	exonic	MAGEL2	.	nonsynonymous SNV	MAGEL2:NM_019066:exon1:c.G2870T:p.G957V,	Schaaf-Yang syndrome, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	2201803	Inborn_genetic_diseases|MAGEL2-related_disorder	MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.980	D	1.59	L	.	.	-0.762	T	0.227	T	.	3.300	17.09	3.94	2.488	1.087	11.802	0.064	0.112360362121	.	.	0.0002	0.0001	0	0	0	0	0	0.0012	0.0001294	20	154602	rs560259716	7.327e-05	7.319e-05	5.587e-05	9.084e-05	0.0012	6.187e-05	5.747e-05	0.0010	0.0009	2.987e-05	0	0	0	0	0.0002	8.994e-07	6.627e-05	0.0012	3.29e-05	3.942e-05	3.858e-05	2.695e-05	0.0004	1.262e-05	7.99e-06	7.324e-05	3.041e-05	7.248e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.979627	0.39581	D	.	.	.	.	.	.	.	.	.	0.156	0.16168	.	.	.	.	.	.	.	0.07565829	0.11721	T	0.11236	0.79047	D	.	.	.	.	0.0675242888579	0.06100	0.22546224060845058	0.22461	0.408297782924	0.41673	0.551594436169	0.46082	T	0.247894	0.61761	T	-0.283336	0.10317	T	-0.23021	0.51752	T	0.498588442802429	0.32578	T	0.626037	0.24205	T	0.11875234	0.27973	0.28026363	0.54001	0.11875234	0.27972	0.28026363	0.54000	-5.21	0.39043	T	.	.	0.336	0.55665	B	.;.	.;.	2.982878	0.39797	21.0	0.99749466454631963	0.84152	0.86521	0.45818	D	AEFDBI	0.294042	0.40451	N	0.203495627692455	0.51367	3.318652	0.237822625838703	0.51958	3.374191	0.999084454274947	0.38397	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.94	3.94	0.44807	0.179000	0.16653	2.825000	0.34987	0.599000	0.40250	0.001000	0.13787	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	11.802	0.51407	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2967.98	38	chr15	23644873	.	C	A	2967.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.165e+00;DP=1010;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.30;ReadPosRankSum=-7.050e-01;SOR=0.716	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,117,1755	20	0	1	0
chr15	23646208	23646208	G	A	exonic	MAGEL2	.	nonsynonymous SNV	MAGEL2:NM_019066:exon1:c.C1535T:p.P512L,	Schaaf-Yang syndrome, Autosomal dominant	.	12	1506	4	0	0	4	0.00132626	.	.	270370	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs886043318	4.206e-05	3.625e-05	3.728e-05	4.722e-05	0.0009	3.235e-05	2.92e-05	0.0002	0.0001	0	0	0	0	0	0.0009	4.461e-05	6.119e-05	0	4.608e-05	4.598e-05	5.145e-05	4.044e-05	8.832e-05	2.113e-05	1.529e-05	3.766e-05	2.578e-05	2.417e-05	0	0	0	0	0	0	8.832e-05	0	0	.	.	.	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.18239	.	.	.	.	.	.	.	0.13717544	0.26096	T	.	.	.	.	.	.	.	0.0675242888579	0.06100	0.09814208639379655	0.09745	.	.	0.76758646965	0.77063	T	0.080203	0.36309	T	-0.174541	0.24550	T	-0.488492	0.23549	T	.	.	.	0.562644	0.19782	T	0.056856643	0.11243	0.09666773	0.22978	0.056856643	0.11242	0.09666773	0.22977	-3.929	0.22738	T	.	.	0.134	0.29004	B	.;.	.;.	1.493515	0.19208	14.15	0.77524934632848275	0.11912	0.01727	0.05464	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.989728114854722	0.31916	0.110573	0.02883	0	0.063388	0.01293	0	0.119651	0.03204	0	0.062806	0.01542	0	0.0698352	0.16490	3.36	1.15	0.19876	-2.351000	0.01171	0.507000	0.19047	0.519000	0.23678	0.000000	0.06391	0.151000	0.23179	0.357000	0.25818	0.0:0.0:0.4712:0.5288	9.127	0.35982	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	856.98	34	chr15	23646208	.	G	A	856.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.885;DP=822;ExcessHet=0.0000;FS=3.252;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.28;ReadPosRankSum=0.140;SOR=0.387	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1072	20	0	1	0
chr15	23646439	23646439	G	A	exonic	MAGEL2	.	nonsynonymous SNV	MAGEL2:NM_019066:exon1:c.C1304T:p.P435L,	Schaaf-Yang syndrome, Autosomal dominant	.	7	1511	3	1	0	5	0.0016518	.	.	190578	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00798722	0.0033	0	0	0.0714	0	0	0.0833	0.0040	0.0006533	101	154602	rs2233062	0.0011	0.0011	0.0009	0.0014	0.0139	0.0011	0.0011	0.0132	0.0128	7.714e-05	5.645e-05	0	0.0132	0	0.0006	1.65e-05	0.0031	0.0139	0.0015	0.0016	0.0013	0.0018	0.0260	0.0014	0.0013	0.0224	0.0210	0.0005	0	0.0002	0	0.0260	0	0	0	0.0019	0.0150	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.23253	.	.	.	.	.	.	.	0.0029898882	0.00049	T	.	.	.	.	.	.	.	0.043077524339	0.03247	0.10943248933509121	0.10872	.	.	0.77185022831	0.77702	T	0.078882	0.35998	T	-0.51145	0.00492	T	-0.488515	0.23546	T	.	.	.	0.539746	0.18256	T	0.05362197	0.10174	0.08859901	0.20667	0.06293347	0.13196	0.08047231	0.18207	-7.625	0.58485	D	.	.	0.165	0.36475	B	.;.	.;.	2.243029	0.28645	17.86	0.94429257409728073	0.24842	0.01960	0.05947	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.988115089582031	0.31422	0.110573	0.02883	0	0.063388	0.01293	0	0.119651	0.03204	0	0.062806	0.01542	0	0.0652958	0.15597	2.19	-0.0136	0.13308	-0.177000	0.09789	2.600000	0.33516	0.513000	0.23382	0.000000	0.06391	0.934000	0.28616	0.019000	0.11356	0.3316:0.0:0.4067:0.2617	2.006	0.03266	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	990.98	34	chr15	23646439	.	G	A	990.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.81;DP=843;ExcessHet=0.0000;FS=0.782;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=-4.570e-01;SOR=0.593	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1072	20	0	1	0
chr15	23647358	23647358	T	C	exonic	MAGEL2	.	nonsynonymous SNV	MAGEL2:NM_019066:exon1:c.A385G:p.M129V,	Schaaf-Yang syndrome, Autosomal dominant	.	0	1519	3	0	0	3	0.000986518	.	.	429621	not_specified|Inborn_genetic_diseases|not_provided|Prader-Willi_syndrome	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0008300,MedGen:C0032897,OMIM:176270,Orphanet:739	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0008	0.0008	0	0	0	0.0011	0.0063	0.0005	0.0002975	46	154602	rs188762916	0.0014	0.0013	0.0015	0.0013	0.0016	0.0013	0.0013	0.0015	0.0015	0.0003	0.0015	0.0003	2.798e-05	0.0005	0.0012	0.0016	0.0012	0.0003	0.0011	0.0011	0.0012	0.0010	0.0025	0.0010	0.0009	0.0019	0.0016	0.0002	0	0.0025	0	0	0.0005	0	0.0016	0.0019	0.0004	.	.	.	0.313	0.19539	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.535	0.56317	.	.	.	.	.	.	.	0.023264885	0.00604	T	.	.	.	.	.	.	.	0.0675242888579	0.06100	0.1989686982458704	0.19813	.	.	0.797494769096	0.81582	T	0.163854	0.50908	T	-0.406012	0.02113	T	-0.386063	0.35012	T	.	.	.	0.513449	0.16474	T	0.2542526	0.48452	0.5673049	0.74952	0.38520002	0.59690	0.48625168	0.70266	-6.405	0.49548	T	.	.	0.200	0.42375	B	.;.	.;.	2.338661	0.29965	18.29	0.36637019273675059	0.02368	0.05186	0.11007	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.995270308025664	0.34040	0.110573	0.02883	0	0.063388	0.01293	0	0.119651	0.03204	0	0.079188	0.02158	0	0.0678676	0.16082	3.76	-2.74	0.05582	1.004000	0.29423	1.836000	0.29152	0.654000	0.53741	0.029000	0.20367	1.000000	0.68203	0.997000	0.79791	0.1499:0.3823:0.0:0.4677	4.693	0.12170	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1124.98	34	chr15	23647358	.	T	C	1124.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.260e-01;DP=835;ExcessHet=0.0000;FS=3.844;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=0.083;SOR=1.101	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1072	20	0	1	0
chr15	24676688	24676688	A	G	exonic	NPAP1	.	nonsynonymous SNV	NPAP1:NM_018958:exon1:c.A821G:p.Q274R,	.	.	423	1097	2	0	0	2	0.000910747	.	.	2756720	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.36	T	0.925	P	0.519	P	0.499	N	1.000	N	0.895	L	2.75	T	-1.009	T	0.024	T	0.1	1.630	11.41	-0.331	-0.087	-0.015	4.202	0.041	0.000911080049513	0.0002	.	0.0001	0.0001	0.0002	0	0	0.0002	0	6.064e-05	9.7e-05	15	154602	rs200204213	8.483e-05	8.482e-05	7.896e-05	9.076e-05	0.0003	7.209e-05	6.797e-05	0.0001	0.0001	0	0.0002	0	0	0	0.0003	9.083e-05	8.279e-05	5.797e-05	3.285e-05	3.283e-05	6.422e-05	0	7.348e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.348e-05	0	0	0.018	0.50676	D	0.53	0.10103	T	0.925	0.51395	P	0.519	0.48163	P	0.498827	0.05079	N	1.392350	1	0.08975	N	0.895	0.22405	L	2.75	0.11622	T	-1.58	0.38151	N	0.081	0.05670	-1.0093	0.27136	T	0.024	0.10194	T	10	0.07051703	0.10270	T	9.11E-4	0.00866	T	0.041	0.10877	.	.	0.0846915920261	0.08053	0.07547296686719404	0.07483	0.283751403844	0.30810	0.36280927062	0.19794	T	0.007673	0.07062	T	-0.555995	0.00268	T	-0.738865	0.03939	T	0.0531040839850903	0.06037	T	0.204979	0.02394	T	0.07633118	0.17257	0.051912937	0.08450	0.07633118	0.17257	0.051912937	0.08450	-3.28	0.13480	T	.	.	0.112	0.22098	B	.	.	1.056184	0.14379	10.95	0.96633096423318499	0.30524	0.02160	0.06344	N	AEFDHCI	0.038304	0.05399	N	-0.737260214172483	0.14981	0.7510254	-0.954218908157963	0.10825	0.547749	0.415525640980921	0.20248	0.487112	0.14033	0	0.573888	0.26702	0	0.440796	0.06475	0	0.564101	0.26826	0	.	.	2.07	-0.331	0.12050	-0.195000	0.09546	-0.249000	0.10523	0.381000	0.20407	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.6073:0.0:0.3927:0.0	4.202	0.09929	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1601.98	113	chr15	24676688	.	A	G	1601.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.479;DP=1687;ExcessHet=0.0000;FS=0.630;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=-1.445e+00;SOR=0.614	GT:AD:DP:GQ:PL	0/0:130,0:130:99:0,120,1800	20	0	1	0
chr15	24677785	24677785	G	A	exonic	NPAP1	.	nonsynonymous SNV	NPAP1:NM_018958:exon1:c.G1918A:p.G640R,	.	.	414	1094	13	1	0	15	0.0068089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.991	D	0.686	P	0.030	N	1.000	N	1.04	L	2.83	T	-1.069	T	0.032	T	0.178	0.922	8.754	-0.964	-0.311	-0.273	1.874	0.079	0.00140767441602	0.0002	0.000599042	0.0006	0	0.0008	0	0	0.0003	0.0033	0.0026	0.0005304	82	154602	rs144839857	0.0003	0.0003	0.0002	0.0003	0.0035	0.0002	0.0002	0.0023	0.0019	5.974e-05	0.0004	3.826e-05	0	1.873e-05	0.0035	9.352e-05	0.0006	0.0021	0.0002	0.0002	0.0002	0.0002	0.0023	0.0002	0.0001	0.0013	0.0010	0	0	0.0006	0	0	0	0	0.0002	0.0014	0.0023	0.016	0.51853	D	0.118	0.36233	T	0.991	0.64070	D	0.686	0.53639	P	0.030319	0.01718	N	2.432560	1	0.08975	N	1.5	0.37844	L	2.83	0.10771	T	-2.34	0.51811	N	0.187	0.20395	-1.0685	0.09746	T	0.032	0.13811	T	10	0.0069537163	0.00158	T	0.001408	0.02088	T	0.079	0.23065	0.096	0.01287	0.0716867268079	0.06686	0.0350933055062958	0.03456	0.248661921543	0.27429	0.33359760046	0.15476	T	0.024905	0.18728	T	-0.618266	0.00113	T	-0.665799	0.07881	T	0.0422191578601324	0.04096	T	0.39586	0.09952	T	0.098437615	0.23219	0.08860432	0.20670	0.098437615	0.23219	0.08860432	0.20670	-3.579	0.17553	T	.	.	0.173	0.37858	B	.	.	0.988186	0.13658	10.20	0.92146753768705292	0.21506	0.00373	0.01896	N	AEFI	0.030861	0.03186	N	-0.646558293038534	0.17560	0.9046559	-0.909455008649187	0.11871	0.607403	9.55077490641747E-4	0.08054	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.28	-0.964	0.09799	-0.235000	0.09031	-0.376000	0.09574	-0.375000	0.05424	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.2296:0.0:0.4503:0.3201	1.874	0.03019	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2377.98	177	chr15	24677785	.	G	A	2377.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.80;DP=2672;ExcessHet=0.0000;FS=1.859;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.43;ReadPosRankSum=0.443;SOR=0.848	GT:AD:DP:GQ:PL	0/0:151,0:151:99:0,120,1800	20	0	1	0
chr15	25679571	25679571	T	A	exonic	ATP10A	.	nonsynonymous SNV	ATP10A:NM_024490:exon21:c.A4270T:p.T1424S,	.	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.0	B	0.0	B	0.520	N	1.000	N	0	N	2.97	T	-0.936	T	0.010	T	0.076	-0.776	0.743	-0.541	0.056	-0.076	0.489	0.035	0.00308858825043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.743e-06	2.736e-06	1.363e-06	4.139e-06	0.0005	6.4e-07	4.3e-07	0.0001	7.555e-05	0	0	0	0	0	0.0005	0	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.758	0.03502	T	0.784	0.04274	T	0.0	0.02946	B	0.0	0.01387	B	0.520298	0.11749	N	0.762633	1	0.08975	N	-0.345	0.03330	N	2.97	0.09450	T	0.28	0.04233	N	0.027	0.00571	-0.9365	0.43164	T	0.010	0.03582	T	10	0.037715405	0.02143	T	0.003089	0.06696	T	0.035	0.08770	0.249	0.18602	0.110392049598	0.10638	0.18771827261762275	0.18689	0.143847666197	0.16248	0.276868879795	0.07060	T	0.019047	0.15248	T	-0.384173	0.02931	T	-0.789614	0.02175	T	0.0579982772469521	0.06851	T	0.257074	0.04045	T	0.0261787	0.01642	0.024274956	0.00444	0.0261787	0.01642	0.024274956	0.00444	-1.832	0.02606	T	.	.	0.086	0.10449	B	.	.	-0.213727	0.03021	0.461	0.20324953562267037	0.00726	0.02867	0.07637	N	AEFDBI	0.056172	0.10363	N	-1.49158839476692	0.01909	0.08377429	-1.45939529536305	0.02686	0.1240027	0.929685596913346	0.26978	0.656854	0.48797	0	0.588015	0.36545	0	0.67347	0.61138	0	0.564101	0.26826	0	.	.	5.12	-0.541	0.11265	-0.149000	0.10189	0.157000	0.15360	-0.929000	0.02155	0.000000	0.06391	0.003000	0.18671	0.001000	0.02609	0.3615:0.2263:0.1176:0.2947	0.489	0.00522	597	0.68309	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1118.98	36	chr15	25679571	.	T	A	1118.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.609;DP=978;ExcessHet=0.0000;FS=3.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.17;ReadPosRankSum=0.624;SOR=0.432	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1168	20	0	1	0
chr15	25681005	25681005	T	C	exonic	ATP10A	.	nonsynonymous SNV	ATP10A:NM_024490:exon18:c.A3562G:p.I1188V,	.	.	417	1101	4	0	0	4	0.00181324	.	.	714346	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.67	T	0.002	B	0.002	B	0.000	N	0.997	D	0.46	N	0.98	T	-1.083	T	0.037	T	0.169	0.659	7.535	2.75	0.271	2.567	7.786	0.073	0.00945249379053	0.0052	0.00239617	0.0036	0.0018	0.0033	0	0.0023	0.0054	0.0011	6.056e-05	0.0038486	595	154602	rs2076745	0.0052	0.0052	0.0053	0.0050	0.0060	0.0051	0.0050	0.0059	0.0058	0.0015	0.0038	0.0101	0	0.0024	0.0012	0.0060	0.0047	0.0001	0.0041	0.0041	0.0047	0.0036	0.0058	0.0039	0.0038	0.0054	0.0052	0.0023	0.0011	0.0039	0.0112	0	0.0019	0.0068	0.0058	0.0071	0.0002	0.503	0.07670	T	0.663	0.06448	T	0.002	0.09854	B	0.002	0.06944	B	0.000001	0.62929	N	0.096626	0.996751	0.43396	D	1.49	0.37298	L	0.98	0.42122	T	-0.17	0.09627	N	0.247	0.27910	-1.0832	0.06739	T	0.037	0.16160	T	10	0.0073272884	0.00167	T	0.009452	0.24763	T	0.073	0.21317	.	.	0.15499578495	0.15088	0.4834675839350748	0.48266	0.133997890471	0.15095	0.523544967175	0.42126	T	0.00858	0.07868	T	-0.529111	0.00389	T	-0.528663	0.19419	T	0.00906692067822099	0.00114	T	0.717028	0.32946	T	0.07975324	0.18237	0.08240758	0.18804	0.07975324	0.18236	0.08240758	0.18803	-6.501	0.50294	T	.	.	0.107	0.19919	B	.	.	2.169134	0.27642	17.53	0.84396623647367541	0.15267	0.92641	0.56191	D	AEFDBI	0.557581	0.56715	D	-0.555498440577391	0.20311	1.069814	-0.389345295164469	0.25313	1.391317	0.981951731497745	0.30332	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.11	2.75	0.31439	2.556000	0.45524	1.791000	0.28799	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.0729:0.1393:0.7878	7.786	0.28255	625	0.65529	P-type ATPase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3237.11	35	chr15	25681005	.	T	C	3237.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.698e+00;DP=1224;ExcessHet=0.1072;FS=8.401;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=0.634;SOR=0.388	GT:AD:DP:GQ:PL	0/1:65,81:146:99:1913,0,1588	19	0	2	0
chr15	25718352	25718352	C	T	exonic	ATP10A	.	nonsynonymous SNV	ATP10A:NM_024490:exon8:c.G1411A:p.V471M,	.	.	.	.	.	.	.	.	.	.	.	3300997	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.23	T	0.075	B	0.043	B	0.117	N	1.000	N	0.55	N	2.81	T	-0.973	T	0.017	T	0.164	0.838	8.385	-4.55	-0.394	-0.106	5.485	0.032	0.00435900524347	.	.	0.0001	0.0001	0	0	0.0003	0.0002	0	0	8.41e-05	13	154602	rs573609756	5.359e-05	5.541e-05	5.194e-05	5.525e-05	0.0011	4.362e-05	4.035e-05	0.0005	0.0003	2.998e-05	2.258e-05	0.0006	0	1.976e-05	0.0011	4.411e-05	6.65e-05	0	5.914e-05	5.91e-05	7.707e-05	4.035e-05	0.0001	3.077e-05	2.21e-05	4.764e-05	3.339e-05	0	0	0	0.0006	0	0	0	0.0001	0	0	0.236	0.17940	T	0.245	0.24054	T	0.075	0.24198	B	0.043	0.24256	B	0.117439	0.02694	N	1.874500	1	0.08975	N	0.955	0.23872	L	2.81	0.10975	T	0.28	0.04233	N	0.226	0.25377	-0.9729	0.36583	T	0.017	0.07187	T	10	0.027661145	0.00909	T	0.004359	0.10624	T	0.032	0.07718	.	.	0.429369812208	0.42556	0.20258114354835435	0.20175	0.170557378409	0.19226	0.26051685214	0.04952	T	0.010449	0.09434	T	-0.408067	0.02048	T	-0.638664	0.09767	T	0.0204679518938065	0.00747	T	0.675032	0.28342	T	0.04050847	0.05794	0.04222881	0.04983	0.04050847	0.05794	0.04222881	0.04983	-3.015	0.10343	T	.	.	0.085	0.10304	B	.	.	0.540406	0.09088	5.873	0.95499521569859802	0.27087	0.04682	0.10364	N	AEFDBI	0.061224	0.11690	N	-1.06111222397106	0.07371	0.3422102	-1.12218295530598	0.07278	0.3533891	0.999994454492514	0.74766	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.99	-4.55	0.03197	-0.115000	0.10713	-0.846000	0.07197	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.350000	0.25659	0.2173:0.2822:0.0:0.5005	5.485	0.16038	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	439.98	35	chr15	25718352	.	C	T	439.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.67;DP=717;ExcessHet=0.0000;FS=5.058;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.57;ReadPosRankSum=-1.518e+00;SOR=1.609	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1357	20	0	1	0
chr15	25862994	25862994	G	C	exonic	ATP10A	.	nonsynonymous SNV	ATP10A:NM_024490:exon1:c.C103G:p.P35A,	.	.	413	1070	38	1	0	40	0.0183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.002	B	0.002	B	0.801	N	1.000	N	2.22	M	3.0	T	-0.997	T	0.037	T	0.186	1.716	11.70	3.13	1.572	-0.667	10.385	0.099	.	.	0.00738818	0.0166	0.0042	0.015	0	0	0.0153	0	0.0355	0.0025226	390	154602	rs201984250	0.0102	0.0095	0.0099	0.0106	0.0265	0.0101	0.0100	0.0254	0.0250	0.0017	0.0037	0.0095	3.449e-05	0.0043	0.0099	0.0102	0.0090	0.0265	0.0077	0.0077	0.0076	0.0079	0.0301	0.0074	0.0072	0.0261	0.0246	0.0024	0.0143	0.0061	0.0069	0	0.0040	0.0069	0.0109	0.0052	0.0301	0.4	0.10482	T	0.306	0.26714	T	0.002	0.09854	B	0.002	0.06944	B	0.800728	0.06767	N	1.128570	0.999925	0.19486	N	0.55	0.14455	N	3.0	0.09167	T	-0.6	0.17834	N	0.222	0.24883	-0.9966	0.30865	T	0.037	0.16073	T	10	0.004319489	0.00087	T	.	.	.	0.099	0.28413	.	.	0.425592409813	0.42174	0.26603274096494134	0.26516	0.836547363532	0.67840	0.861666023731	0.91357	D	0.026818	0.19766	T	-0.601268	0.00143	T	-0.622177	0.11015	T	0.00638069958827155	0.00071	T	0.692631	0.30204	T	0.08781295	0.20463	0.11398819	0.27513	0.08781295	0.20463	0.11398819	0.27512	-3.461	0.18876	T	.	.	0.058	0.00670	B	.;.	.;.	2.590312	0.33598	19.39	0.96415717537927481	0.29740	0.72840	0.35640	D	AEFDBCI	0.122009	0.23696	N	-0.265191423867348	0.30502	1.701342	-0.209321729804864	0.31199	1.763522	0.999980345760994	0.51787	0.59774	0.34471	0	0.475579	0.06741	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	3.13	3.13	0.35090	3.120000	0.50123	3.893000	0.40305	0.566000	0.28629	0.748000	0.29111	1.000000	0.68203	0.981000	0.58702	0.0:0.221:0.779:0.0	10.385	0.43315	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	3415.66	33	chr15	25862994	.	G	C	3415.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.207e+00;DP=830;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=22.92;ReadPosRankSum=-2.150e+00;SOR=0.618	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1217	19	1	1	0
chr15	27983407	27983407	C	T	exonic	OCA2	.	nonsynonymous SNV	OCA2:NM_001300984:exon13:c.G1369A:p.A457T	Albinism, brown oculocutaneous, Autosomal recessive;Albinism, oculocutaneous, type II, Autosomal recessive	YES	0	1505	17	0	0	17	0.00561612	.	.	15993	OCA2-related_disorder|not_specified|not_provided|Tyrosinase-positive_oculocutaneous_albinism	.|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008746,MedGen:C0268495,OMIM:203200,Orphanet:79432	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.32	T	0.946	P	0.621	P	0.000	D	1.000	A	2.675	M	-1.67	D	-0.174	T	0.293	T	0.861	4.808	27.2	5.06	2.343	5.322	17.427	0.720	.	0.0013	0.00798722	0.0078	9.61e-05	0.0016	0.0303	0.0473	0.0047	0.0176	0.0009	0.0067528	1044	154602	rs74653330	0.0047	0.0047	0.0048	0.0046	0.0527	0.0046	0.0046	0.0508	0.0501	0.0002	0.0027	0.0177	0.0527	0.0458	0.0021	0.0012	0.0051	0.0009	0.0067	0.0067	0.0044	0.0090	0.0342	0.0063	0.0062	0.0300	0.0285	0.0003	0	0.0027	0.0173	0.0342	0.0545	0	0.0019	0.0052	0.0012	0.192	0.20988	T	0.436	0.13634	T	0.946	0.53363	P	0.621	0.51426	P	0.000000	0.84330	D	0.000000	0.999973	0.53665	A	2.755	0.80505	M	-1.67	0.82806	D	-2.12	0.48184	N	0.888	0.95608	-0.1744	0.78321	T	0.293	0.66508	T	9	0.014360964	0.00302	T	.	.	.	0.720	0.90101	.	.	0.918188717046	0.91736	0.9407718962271029	0.94058	0.4607494585	0.45631	0.729123711586	0.71378	T	0.574765	0.85979	D	-0.0541888	0.43808	T	0.211917	0.83764	D	0.0675672815574518	0.08305	T	0.990401	0.97014	D	0.2687473	0.49947	0.29853162	0.55887	0.28667596	0.51682	0.27513763	0.53447	-10.12	0.77077	D	0.5161700043131197	0.58914	0.208	0.52961	B	.;.	.;.	4.957557	0.81941	27.7	0.99912961034017145	0.98167	0.95027	0.63172	D	AEFDGBI	0.780824	0.71260	D	0.494835249542985	0.66786	4.99557	0.518449324302373	0.69234	5.331151	0.999999902065305	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.06	5.06	0.67838	5.396000	0.66042	7.604000	0.61663	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	17.427	0.87420	958	0.09170	.;Citrate transporter-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1248.98	35	chr15	27983407	.	C	T	1248.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.580e-01;DP=822;ExcessHet=0.0000;FS=1.549;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=-7.210e-01;SOR=0.665	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1199	20	0	1	0
chr15	28350883	28350883	G	T	exonic	LOC100132202;LOC645202	.	nonsynonymous SNV	LOC100132202:NM_001365373:exon9:c.C1855A:p.Q619K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	.	.	.	.	.	.	.	.	.	.	.	.	-0.909	T	0.110	T	.	-0.520	1.628	.	0.149	0.069	.	0.114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	68.62	21	chr15	28350883	.	G	T	68.62	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-1.383e+00;DP=155;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2278;MLEAC=1;MLEAF=0.031;MQ=27.00;MQRankSum=0.00;QD=17.15;ReadPosRankSum=-1.383e+00;SOR=0.105	GT:AD:DP:GQ:PGT:PID:PL:PS	./.	15	0	1	5
chr15	28351041	28351145	TCCTCCTGCTCCTGCCTCTTTTCCTCCTGCTCCCGTATCTTCTCCTCCTGCCTCCACACCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCCTCCACATCTTA	-	exonic	LOC100132202	.	nonframeshift deletion	LOC100132202:NM_001365373:exon9:c.1593_1697del:p.D531_E565del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.84e-06	1.327e-05	1.027e-05	9.443e-06	6.915e-05	3.54e-06	2.32e-06	2.06e-06	5.7e-07	6.915e-05	0	0	0	0	0	7.746e-06	3.313e-05	1.898e-05	5.579e-05	7.624e-05	5.485e-05	5.677e-05	0.0001	1.902e-05	1.077e-05	2.381e-05	1.26e-05	0	0	0.0001	0	0	0	0	8.984e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	45.12	14	chr15	28351040	.	CTCCTCCTGCTCCTGCCTCTTTTCCTCCTGCTCCCGTATCTTCTCCTCCTGCCTCCACACCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCCTCCACATCTTA	C	45.12	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-4.730e-01;DP=242;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0410;MLEAC=1;MLEAF=0.031;MQ=39.08;MQRankSum=0.00;QD=3.47;ReadPosRankSum=-7.180e-01;SOR=0.765	GT:AD:DP:GQ:PL	./.	15	0	1	5
chr15	28387622	28387622	G	A	exonic	GOLGA8F;GOLGA8G	.	nonsynonymous SNV	GOLGA8G:NM_001368078:exon14:c.G694A:p.D232N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00145506652939	.	.	3.132e-05	0	0	0	0	0	0	0.0003	.	.	.	rs772661040	5.131e-06	6.566e-06	5.466e-06	4.834e-06	5.578e-05	1.2e-06	8.1e-07	1.902e-05	1.077e-05	0	0	0	0	0	0	0	0	5.578e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.28958	T	0.99	0.63424	D	0.827	0.59428	P	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.113	0.10056	.	.	.	.	.	.	.	0.110694885	0.20700	T	0.001455	0.02189	T	.	.	.	.	0.110392049598	0.10638	0.16042624436375658	0.15963	1.66514184945	0.89766	.	.	.	0.018441	0.14866	T	-0.466229	0.00898	T	-0.713173	0.05133	T	.	.	.	0.684232	0.29780	T	0.14547484	0.33345	0.13871856	0.33119	0.14547484	0.33345	0.13871856	0.33119	-5.952	0.45876	T	.	.	0.152	0.34094	B	.;.	.;.	1.748897	0.22250	15.54	0.9943436558955433	0.64423	0.18180	0.20153	N	AEFI	0.099358	0.20002	N	.	.	.	.	.	.	4.41246437135869E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.628	0.628	0.16854	1.608000	0.36458	2.555000	0.33284	0.167000	0.17740	0.850000	0.30445	0.129000	0.22981	0.111000	0.18785	1.0E-4:0.0:0.9999:0.0	7.078	0.24392	405	0.82444	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	235.15	31	chr15	28387622	.	G	A	235.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.00;DP=722;ExcessHet=0.0000;FS=1.536;InbreedingCoeff=-0.0296;MLEAC=1;MLEAF=0.024;MQ=37.43;MQRankSum=-4.190e-01;QD=8.11;ReadPosRankSum=1.17;SOR=1.270	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1062	20	0	1	0
chr15	28387630	28387630	G	T	exonic	GOLGA8F;GOLGA8G	.	nonsynonymous SNV	GOLGA8G:NM_001368078:exon14:c.G702T:p.E234D	.	.	435	1072	14	1	0	16	0.00740741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00439297	0.0067	0.0021	0.0064	0	0.0011	0.0081	0.0099	0.0098	0.0012679	33	26028	rs529488406	0.0043	0.0039	0.0040	0.0045	0.0061	0.0042	0.0041	0.0056	0.0054	0.0013	0.0043	0.0025	2.711e-05	0.0010	0.0036	0.0049	0.0044	0.0061	0.0046	0.0051	0.0048	0.0043	0.0070	0.0043	0.0042	0.0060	0.0058	0.0020	0	0.0060	0.0027	0.0002	0.0006	0.0036	0.0065	0.0054	0.0070	.	.	.	0.027	0.55341	D	0.02	0.18235	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.108	0.09349	.	.	.	.	.	.	.	0.0078137815	0.00177	T	.	.	.	.	.	.	.	0.404248775258	0.40039	0.14430636717824866	0.14353	2.50542237494	0.97679	.	.	.	0.032031	0.22308	T	-0.45804	0.01011	T	-0.428246	0.30134	T	.	.	.	0.353365	0.08539	T	0.04717395	0.08021	0.045293212	0.06063	0.04717395	0.08021	0.045293212	0.06063	-3.473	0.16056	T	.	.	0.174	0.38099	B	.;.	.;.	1.928016	0.24484	16.41	0.81208873610338606	0.13573	0.00806	0.03275	N	AEFI	0.023505	0.01320	N	.	.	.	.	.	.	1.62757392034573E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.628	-1.26	0.08892	0.055000	0.14112	0.083000	0.14415	0.167000	0.17740	0.000000	0.06391	0.003000	0.18671	0.068000	0.16518	0.432:0.2624:0.3056:0.0	2.668	0.04743	405	0.82444	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	207.15	31	chr15	28387630	.	G	T	207.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.670e-01;DP=760;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0296;MLEAC=1;MLEAF=0.024;MQ=37.75;MQRankSum=-1.093e+00;QD=2.92;ReadPosRankSum=-1.970e-01;SOR=0.632	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1062	20	0	1	0
chr15	28527435	28527435	C	A	exonic	GOLGA8F;GOLGA8G	.	nonsynonymous SNV	GOLGA8G:NM_001368078:exon8:c.G27T:p.M9I	.	.	454	1044	21	3	0	27	0.012766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000523040748597	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1268493071	0.0027	0.0030	0.0028	0.0027	0.0183	0.0026	0.0026	0.0141	0.0127	0.0022	0.0049	0.0018	0	0.0004	0.0183	0.0033	0.0038	0.0011	0.0024	0.0027	0.0024	0.0024	0.0033	0.0021	0.0021	0.0025	0.0023	0.0019	0	0.0033	0.0012	0	0.0005	0.0079	0.0028	0.0064	0.0010	0.931	0.02245	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.81	0.10975	T	0.49	0.02993	N	0.06	0.03175	.	.	.	.	.	.	.	0.008204997	0.00186	T	5.23E-4	0.00174	T	.	.	.	.	0.0138822411134	0.00435	0.22901428615377845	0.22816	1.25351651058	0.81861	.	.	.	.	.	.	-0.693542	0.00040	T	-0.769521	0.02784	T	.	.	.	0.333767	0.07077	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40666	B	.	.	-0.934766	0.00869	0.031	0.40862136682954447	0.02911	0.01035	0.03875	N	AEFI	0.042647	0.06644	N	.	.	.	.	.	.	3.77405762741583E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.637	-1.27	0.08863	-0.186000	0.09666	-0.795000	0.07398	-1.187000	0.01379	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.0:0.77:0.0:0.23	7.355	0.25886	410	0.82135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	305.98	48	chr15	28527435	.	C	A	305.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=726;ExcessHet=0.0000;FS=1.157;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=22.90;MQRankSum=-1.272e+00;QD=6.37;ReadPosRankSum=-4.150e-01;SOR=0.821	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1332	20	0	1	0
chr15	28560657	28560657	C	T	exonic	LOC100132202	.	nonsynonymous SNV	LOC100132202:NM_001365373:exon8:c.C1765T:p.R589W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	.	.	.	.	.	.	.	.	.	.	.	.	-0.942	T	0.095	T	.	-0.937	0.366	.	-1.187	-1.750	4.737	0.031	.	.	.	0.0011	0.0073	0	0	0	0.0001	0	0.0008	.	.	.	rs753358359	0.0002	0.0002	0.0002	0.0002	0.0040	0.0002	0.0001	0.0034	0.0032	0.0040	0.0005	0	0	2.076e-05	0.0002	3.158e-05	0.0005	0.0005	0.0016	0.0017	0.0017	0.0014	0.0055	0.0014	0.0013	0.0048	0.0046	0.0055	0	0.0004	0	0.0004	0	0	7.103e-05	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	299.98	28	chr15	28560657	.	C	T	299.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.701;DP=677;ExcessHet=0.0000;FS=2.555;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=36.77;MQRankSum=0.390;QD=6.25;ReadPosRankSum=-1.310e-01;SOR=0.399	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1214	20	0	1	0
chr15	28702114	28702114	C	G	exonic	GOLGA8M	.	nonsynonymous SNV	GOLGA8M:NM_001282468:exon19:c.G1739C:p.S580T,	.	.	344	1171	7	0	0	7	0.00297999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00539137	0.0087	0.0144	0.0154	0	0.0193	0.0090	0.0161	0.0027	0.001216	188	154602	rs201665783	0.0059	0.0080	0.0059	0.0058	0.0104	0.0058	0.0057	0.0095	0.0092	0.0104	0.0030	0.0079	0.0006	0.0118	0.0046	0.0060	0.0065	0.0028	0.0083	0.0092	0.0080	0.0086	0.0097	0.0079	0.0078	0.0089	0.0086	0.0097	0.0022	0.0027	0.0070	0.0020	0.0132	0.0035	0.0090	0.0064	0.0032	0.064	0.36509	T	0.02	0.58613	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.83	0.24841	T	-2.12	0.48184	N	0.109	0.09490	.	.	.	.	.	.	.	0.007103145	0.00162	T	.	.	.	.	.	.	.	0.043077524339	0.03247	0.15839361213490336	0.15760	0.450197581717	0.44788	.	.	.	0.061497	0.31670	T	-0.65092	0.00072	T	-0.696747	0.06006	T	.	.	.	0.455954	0.13062	T	0.13564715	0.31475	0.15629028	0.36598	0.13564715	0.31475	0.15629028	0.36597	-3.902	0.22333	T	.	.	0.099	0.16626	B	.	.	1.568145	0.20082	14.58	0.77353703573315857	0.11840	0.05526	0.11418	N	AEFI	0.039513	0.05751	N	.	.	.	.	.	.	1.17655116161652E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	0.798	0.798	0.17803	-0.048000	0.11898	-0.260000	0.10434	-1.020000	0.01735	0.979000	0.35152	0.177000	0.23390	0.010000	0.09038	0.0:1.0:0.0:0.0	4.952	0.13370	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1286.98	33	chr15	28702114	.	C	G	1286.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.577e+00;DP=775;ExcessHet=0.0000;FS=6.228;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=46.62;MQRankSum=-2.710e-01;QD=16.71;ReadPosRankSum=0.936;SOR=0.264	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1032	20	0	1	0
chr15	28702471	28702471	C	G	exonic	GOLGA8M	.	nonsynonymous SNV	GOLGA8M:NM_001282468:exon17:c.G1561C:p.D521H,	.	.	222	1279	21	0	0	21	0.00814269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0047	0.0015	0.0043	0.0023	0.0006	0.0031	0.0110	0.0085	0.0002305	6	26028	rs200253339	0.0012	0.0011	0.0010	0.0013	0.0050	0.0011	0.0011	0.0044	0.0043	0.0002	0.0009	0.0046	0.0010	0.0003	0.0050	0.0008	0.0016	0.0048	0.0009	0.0010	0.0008	0.0011	0.0021	0.0008	0.0007	0.0010	0.0007	0.0003	0	0.0009	0.0071	0.0003	0.0003	0.0075	0.0010	0.0012	0.0021	0.014	0.53172	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.987914	0.24467	N	.	.	.	2.87	0.10386	T	-3.47	0.67824	D	0.307	0.34659	.	.	.	.	.	.	.	0.009870201	0.00221	T	.	.	.	.	.	.	.	0.043077524339	0.03247	0.1760622624823617	0.17525	1.38852244081	0.84936	.	.	.	0.167321	0.51390	T	-0.594185	0.00158	T	-0.626016	0.10718	T	.	.	.	0.758824	0.38273	T	0.101773426	0.24043	0.12756146	0.30704	0.101773426	0.24043	0.12756146	0.30704	-4.503	0.30928	T	.	.	0.268	0.50222	B	.	.	1.714429	0.21829	15.37	0.96784418985018106	0.31087	0.18089	0.20115	N	AEFCI	0.083054	0.16824	N	.	.	.	.	.	.	1.99474722603683E-5	0.02871	0.533608	0.22052	0	0.61073	0.52368	0	0.685742	0.62368	0	0.638833	0.57524	0	.	.	0.798	-1.6	0.07977	0.113000	0.15333	-10.775000	0.00667	0.151000	0.17695	0.995000	0.38783	0.000000	0.08366	0.096000	0.18090	0.0:0.5394:0.251:0.2096	3.743	0.08062	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	582.98	29	chr15	28702471	.	C	G	582.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.890e-01;DP=834;ExcessHet=0.0000;FS=11.481;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=51.07;MQRankSum=0.223;QD=18.22;ReadPosRankSum=0.218;SOR=0.036	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1354	20	0	1	0
chr15	28706116	28706116	C	A	exonic	GOLGA8M	.	nonsynonymous SNV	GOLGA8M:NM_001282468:exon11:c.G874T:p.A292S,	.	.	531	987	4	0	0	4	0.00202224	0.9999	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	2.675	M	1.82	T	-1.010	T	0.100	T	0.072	2.227	13.40	0.798	0.724	2.866	4.952	0.099	0.00580194803917	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1464642995	0.0014	0.0009	0.0015	0.0014	0.0159	0.0014	0.0013	0.0148	0.0143	7.411e-05	5.053e-05	0	0.0159	3.278e-05	0.0005	0.0003	0.0028	0.0002	0.0007	0.0008	0.0006	0.0009	0.0171	0.0006	0.0006	0.0140	0.0129	7.314e-05	0	0.0003	0	0.0171	0	0	0.0002	0.0035	0.0002	0.029	0.45756	D	0.033	0.53072	D	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	-2.6	0.89888	D	-2.0	0.46146	N	0.055	0.02658	-1.0102	0.26854	T	0.100	0.37213	T	6	0.0059670806	0.00134	T	0.005802	0.15072	T	.	.	.	.	0.110392049598	0.10638	0.22245081833408326	0.22160	2.52078213034	0.97734	.	.	.	0.050456	0.28601	T	-0.307715	0.07951	T	-0.379464	0.35787	T	0.102356778292837	0.12614	T	0.741226	0.36032	T	0.08473018	0.19623	0.087137155	0.20234	0.08473018	0.19623	0.087137155	0.20234	-5.777	0.44373	T	.	.	0.135	0.29255	B	.	.	3.403269	0.47175	22.4	0.98185820377582489	0.38984	0.44950	0.27431	N	AEFI	0.112328	0.22207	N	-0.0246702337209107	0.40739	2.424657	-0.326665104410343	0.27240	1.510171	4.95178924050169E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.798	0.798	0.17803	0.097000	0.15007	3.906000	0.40380	0.151000	0.17695	0.000000	0.06391	0.999000	0.35428	0.071000	0.16709	0.0:1.0:0.0:0.0	4.952	0.13370	923	0.18507	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	348.98	30	chr15	28706116	.	C	A	348.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.614;DP=744;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=23.79;MQRankSum=0.632;QD=9.43;ReadPosRankSum=-6.250e-01;SOR=0.704	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	20	0	1	0
chr15	28707834	28707834	G	A	exonic	GOLGA8M	.	nonsynonymous SNV	GOLGA8M:NM_001282468:exon8:c.C505T:p.R169C,	.	.	433	1079	9	1	0	11	0.00507146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	.	.	.	.	.	.	1.000	N	1.45	L	1.9	T	-1.023	T	0.063	T	0.176	0.149	4.804	0.798	0.724	2.220	7.458	0.038	0.00163637395798	.	0.000199681	0.0020	0	0.0036	0	0	0.0003	0.0044	0.0053	3.84e-05	1	26028	rs577662356	0.0003	0.0003	0.0001	0.0004	0.0036	0.0003	0.0002	0.0032	0.0031	6.163e-05	0.0002	3.845e-05	0.0003	0	0.0031	3.966e-05	0.0003	0.0036	0.0001	0.0002	4.052e-05	0.0002	0.0015	6.334e-05	5.139e-05	0.0007	0.0005	5.187e-05	0	7.493e-05	0.0003	0	0	0.0034	4.434e-05	0	0.0015	0.021	0.49117	D	0.112	0.37037	T	.	.	.	.	.	.	.	.	.	.	0.999934	0.19363	N	.	.	.	1.9	0.23486	T	-3.8	0.71762	D	0.2	0.22098	-1.0226	0.22866	T	0.063	0.26101	T	7	0.015712112	0.00330	T	0.001636	0.02651	T	.	.	.	.	0.043077524339	0.03247	0.31551573088677504	0.31464	2.25975729635	0.96171	.	.	.	0.099191	0.40376	T	-0.549739	0.00293	T	-0.563912	0.16010	T	0.043474580740483	0.04324	T	0.777822	0.41150	T	0.09089484	0.21283	0.097269535	0.23146	0.09089484	0.21282	0.097269535	0.23146	-8.159	0.62148	D	.	.	0.085	0.10062	B	.	.	2.050135	0.26063	16.99	0.55232935050292731	0.05300	0.16731	0.19523	N	AEFI	0.063153	0.12184	N	-0.476164261831088	0.22864	1.223816	-0.647766546227374	0.18273	0.9754337	4.46700470008146E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	0.798	0.798	0.17803	2.408000	0.44227	1.309000	0.25526	0.221000	0.18078	0.926000	0.32145	0.005000	0.19230	0.001000	0.02609	0.0:0.0:1.0:0.0	7.458	0.26448	923	0.18507	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2559.98	33	chr15	28707834	.	G	A	2559.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.22;DP=886;ExcessHet=0.0000;FS=8.863;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.45;MQRankSum=-5.230e+00;QD=11.91;ReadPosRankSum=0.662;SOR=0.344	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1126	20	0	1	0
chr15	28842324	28842324	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G1780A:p.A594T,	.	.	734	778	8	2	0	12	0.00765306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00499201	.	.	.	.	.	.	.	.	0.0068388	178	26028	rs138481228	0.0095	0.0079	0.0095	0.0095	0.0102	0.0094	0.0093	0.0100	0.0100	0.0013	0.0031	0.0065	0	0.0078	0.0096	0.0102	0.0085	0.0083	0.0059	0.0059	0.0060	0.0058	0.0092	0.0056	0.0054	0.0086	0.0084	0.0013	0	0.0046	0.0081	0	0.0062	0.0102	0.0092	0.0047	0.0073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006117761	0.00138	T	.	.	.	.	.	.	.	.	.	0.004366120247626335	0.00410	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.306369	0.05889	T	0.026401768	0.01693	0.1082772	0.26080	0.026401768	0.01693	0.1082772	0.26079	-3.038	0.10596	T	.	.	0.089	0.12228	B	.	.	-0.198033	0.03100	0.490	0.77294282673265802	0.11816	0.00108	0.00689	N	AEFDI	.	.	.	.	.	.	.	.	.	2.59472011197163E-5	0.03498	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.062806	0.01542	0	0.0476782	0.07194	1.07	-2.14	0.06725	-0.591000	0.05848	-5.039000	0.01875	0.111000	0.17629	0.009000	0.18154	0.000000	0.08366	0.052000	0.15357	0.0:0.6008:0.3992:0.0	6.425	0.20967	946	0.12043	.	GOLGA6L7P	Artery_Aorta	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	119.16	7	chr15	28842324	.	C	T	119.16	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.30;DP=211;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0522;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=6.27;ReadPosRankSum=-7.920e-01;SOR=0.804	GT:AD:DP:GQ:PL	0/0:8,0:8:24:0,24,218	19	0	2	0
chr15	28842754	28842754	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G1350A:p.M450I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1288774704	0	1.438e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.893e-06	0.0002	0	1.414e-05	1.51e-05	0	0	.	.	0	0	0	0	0	0	0	1.51e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073978126	0.11250	T	.	.	.	.	.	.	.	.	.	0.025714335919542787	0.02522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49935	0.15589	T	0.26085496	0.49143	0.41460165	0.65598	0.26085496	0.49142	0.41460165	0.65599	-6.041	0.46621	T	.	.	0.320	0.54499	B	.	.	0.346122	0.07195	3.785	0.46182978349490345	0.03680	0.00699	0.02973	N	AEFCI	.	.	.	.	.	.	.	.	.	2.02772666150393E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.046323	0.05263	0.432	-0.864	0.10126	-1.139000	0.03324	-6.627000	0.01347	0.307000	0.19059	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	36.61	2	chr15	28842754	.	C	T	36.61	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.530e-01;DP=83;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0774;MLEAC=1;MLEAF=0.026;MQ=54.19;MQRankSum=-1.645e+00;QD=7.32;ReadPosRankSum=1.65;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1,0:1:3:.:.:0,3,39	18	0	1	2
chr15	28842769	28842769	C	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G1335T:p.K445N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	3.964e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13426334	0.25553	T	.	.	.	.	.	.	.	.	.	0.014084711086313456	0.01365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.660234	0.26930	T	0.11011243	0.26029	0.18088396	0.40916	0.11011243	0.26029	0.18088396	0.40915	-10.411	0.76334	D	.	.	0.457	0.62562	A	.	.	1.422859	0.18399	13.71	0.77069214936695363	0.11724	0.04961	0.10726	N	AEFCI	.	.	.	.	.	.	.	.	.	1.96097516218287E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.046323	0.05263	0.432	0.432	0.15742	0.422000	0.21016	0.222000	0.16086	0.307000	0.19059	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	51.12	2	chr15	28842769	.	C	A	51.12	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-2.820e-01;DP=78;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0828;MLEAC=1;MLEAF=0.028;MQ=53.79;MQRankSum=-1.480e+00;QD=5.68;ReadPosRankSum=-2.820e-01;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	./.	17	0	1	3
chr15	28842774	28842774	G	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.C1330T:p.R444W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1332133628	1.495e-05	4.521e-05	7.121e-06	2.36e-05	4.882e-05	8.85e-06	7.16e-06	7.93e-06	6.11e-06	0	0	0	3.926e-05	0	0	1.421e-05	2.36e-05	4.882e-05	0.0002	0.0005	0.0002	0.0001	0.0010	9.513e-05	7.452e-05	0.0002	7.505e-05	0.0002	0	0.0002	0	0	0.0005	0	0.0001	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05602908	0.06217	T	.	.	.	.	.	.	.	.	.	0.04232661021332076	0.04177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.630337	0.24523	T	0.25865686	0.48916	0.18417773	0.41454	0.25865686	0.48916	0.18417773	0.41453	-6.057	0.46753	T	.	.	0.126	0.26762	B	.	.	0.617512	0.09862	6.621	0.57542920807751563	0.05792	0.00376	0.01908	N	AEFDCI	.	.	.	.	.	.	.	.	.	3.85059366971751E-5	0.03775	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.046323	0.05263	0.432	-0.864	0.10126	-4.195000	0.00314	-11.787000	0.00575	-1.938000	0.00493	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	89.19	2	chr15	28842774	.	G	A,T	89.19	.	AC=1,1;AF=0.029,0.029;AN=34;BaseQRankSum=-2.530e-01;DP=79;ExcessHet=0.1336;FS=0.000;InbreedingCoeff=-0.1257;MLEAC=1,1;MLEAF=0.029,0.029;MQ=53.94;MQRankSum=-1.480e+00;QD=6.37;ReadPosRankSum=1.65;SOR=0.412	GT:AD:DP:GQ:PGT:PID:PL:PS	./.	15	0	1	4
chr15	28843134	28843134	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G970A:p.E324K,	.	.	524	965	30	3	0	36	0.0183113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1204083828	0.0003	0.0018	0.0002	0.0003	0.0013	0.0002	0.0002	0.0009	0.0008	0.0003	0.0010	0.0004	0.0013	0.0001	0.0003	0.0002	0.0004	0.0009	0.0009	0.0085	0.0007	0.0011	0.0017	0.0008	0.0007	0.0013	0.0012	0.0017	0	0.0012	0.0006	0.0011	0.0009	0	0.0005	0.0010	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054320782	0.05765	T	.	.	.	.	.	.	.	.	.	0.0796059710434255	0.07895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.552145	0.19060	T	0.026396565	0.01691	0.06522381	0.13188	0.026396565	0.01691	0.06522381	0.13188	-7.191	0.55416	T	.	.	0.093	0.13969	B	.	.	0.927256	0.13022	9.528	0.40818859624842702	0.02905	0.00385	0.01942	N	AEFCI	.	.	.	.	.	.	.	.	.	2.69831305298825E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-2.618000	0.00953	-2.469000	0.03716	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	1.0E-4:0.3485:0.6514:0.0	5.585	0.16554	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	150.57	2	chr15	28843134	.	C	T	150.57	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-3.190e-01;DP=198;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0832;MLEAC=2;MLEAF=0.050;MQ=53.75;MQRankSum=0.180;QD=8.37;ReadPosRankSum=0.431;SOR=0.934	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:9,0:9:12:.:.:0,12,312	18	0	2	1
chr15	28843135	28843135	C	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G969T:p.Q323H,	.	.	518	971	30	3	0	36	0.0182002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1233704262	0.0003	0.0018	0.0002	0.0004	0.0013	0.0003	0.0002	0.0009	0.0008	0.0004	0.0010	0.0005	0.0013	0.0002	0.0003	0.0002	0.0005	0.0008	0.0008	0.0084	0.0006	0.0010	0.0014	0.0007	0.0006	0.0011	0.0010	0.0014	0	0.0011	0.0003	0.0010	0.0009	0	0.0004	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09346208	0.16541	T	.	.	.	.	.	.	.	.	.	0.04198620401242224	0.04143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.467153	0.13745	T	0.03609981	0.04375	0.057831366	0.10583	0.03609981	0.04374	0.057831366	0.10582	-9.024	0.67852	D	.	.	0.328	0.55089	B	.	.	1.202482	0.15947	12.21	0.53190382402369574	0.04891	0.05610	0.11516	N	AEFCI	.	.	.	.	.	.	.	.	.	1.60012443190448E-5	0.02871	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	0.432	0.15742	0.047000	0.13941	0.456000	0.18569	0.356000	0.20028	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.9998:0.0:2.0E-4	6.751	0.22677	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	150.53	2	chr15	28843135	.	C	A	150.53	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-6.190e-01;DP=197;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0817;MLEAC=2;MLEAF=0.050;MQ=53.75;MQRankSum=0.180;QD=8.36;ReadPosRankSum=0.431;SOR=0.934	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:8,0:8:21:.:.:0,21,315	18	0	2	1
chr15	28843142	28843142	C	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G962T:p.R321L,	.	.	544	955	21	2	0	25	0.0129199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1191857706	0.0001	0.0011	0.0001	0.0001	0.0010	9.584e-05	8.968e-05	0.0004	0.0003	0.0005	0.0005	0.0004	0.0005	7.934e-05	0.0010	6.784e-05	9.229e-05	0.0006	0.0007	0.0077	0.0006	0.0008	0.0012	0.0006	0.0005	0.0008	0.0007	0.0011	0	0.0012	0.0003	0.0006	0.0009	0	0.0004	0.0005	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076286405	0.11898	T	.	.	.	.	.	.	.	.	.	0.030957340557654735	0.03044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.668433	0.27736	T	0.075750865	0.17086	0.09239469	0.21771	0.075750865	0.17086	0.09239469	0.21771	-8.631	0.65293	D	.	.	0.105	0.19276	B	.	.	0.254151	0.06330	2.792	0.30357631313706235	0.01656	0.00529	0.02453	N	AEFCI	.	.	.	.	.	.	.	.	.	2.82397054557777E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-0.905000	0.04184	-6.198000	0.01467	-0.833000	0.02857	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3272:0.3435:0.3293:0.0	2.202	0.03687	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	144.72	1	chr15	28843142	.	C	A	144.72	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-8.120e-01;DP=202;ExcessHet=0.1072;FS=2.098;InbreedingCoeff=-0.0852;MLEAC=2;MLEAF=0.050;MQ=52.94;MQRankSum=0.431;QD=7.24;ReadPosRankSum=0.282;SOR=0.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:8,0:8:24:.:.:0,24,279	18	0	2	1
chr15	28843145	28843145	A	G	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.T959C:p.M320T,	.	.	552	948	20	2	0	24	0.0125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394968721	9.032e-05	0.0009	8.61e-05	9.487e-05	0.0005	7.569e-05	6.959e-05	0.0003	0.0003	0.0002	0.0004	0.0003	0.0004	3.904e-05	0.0003	5.774e-05	6.833e-05	0.0005	0.0006	0.0071	0.0004	0.0007	0.0009	0.0005	0.0004	0.0006	0.0005	0.0009	0	0.0009	0.0003	0.0006	0.0006	0	0.0003	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06346178	0.08270	T	.	.	.	.	.	.	.	.	.	0.027028037523204537	0.02652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.80032	0.44603	T	0.06259258	0.13090	0.20706734	0.44950	0.06259258	0.13089	0.20706734	0.44949	-8.92	0.67181	D	.	.	0.373	0.57993	A	.	.	1.332190	0.17377	13.13	0.13608050232526028	0.00274	0.00806	0.03275	N	AEFCI	.	.	.	.	.	.	.	.	.	2.99479300498238E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-3.140000	0.00647	-2.879000	0.03269	-0.682000	0.04210	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3434:0.327:0.0:0.3296	1.454	0.02237	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	141.86	1	chr15	28843145	.	A	G	141.86	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-8.120e-01;DP=212;ExcessHet=0.1072;FS=2.141;InbreedingCoeff=-0.0894;MLEAC=2;MLEAF=0.050;MQ=53.30;MQRankSum=0.431;QD=6.76;ReadPosRankSum=-3.500e-02;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:8,0:8:24:.:.:0,24,273	18	0	2	1
chr15	28843152	28843152	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G952A:p.E318K,	.	.	596	905	19	2	0	23	0.0125477	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175861085	8.072e-05	0.0008	7.323e-05	8.88e-05	0.0005	6.676e-05	6.15e-05	0.0003	0.0002	0.0005	0.0004	0.0002	0.0005	3.946e-05	0	4.87e-05	2.315e-05	0.0004	0.0005	0.0063	0.0004	0.0005	0.0008	0.0004	0.0004	0.0005	0.0005	0.0008	0	0.0008	0	0.0004	0.0006	0	0.0003	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084602505	0.14197	T	.	.	.	.	.	.	.	.	.	0.03870546161705601	0.03816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.807219	0.45710	T	0.022809826	0.00971	0.063979626	0.12754	0.022809826	0.00970	0.063979626	0.12754	-7.409	0.56968	T	.	.	0.076	0.05756	B	.	.	0.240593	0.06208	2.659	0.69185045974801285	0.08892	0.00371	0.01888	N	AEFCI	.	.	.	.	.	.	.	.	.	1.10080633485978E-4	0.05123	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-0.998000	0.03812	-7.625000	0.01118	-2.765000	0.00194	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2626:0.7373:0.0	7.994	0.29417	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	138.57	3	chr15	28843152	.	C	T	138.57	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-6.420e-01;DP=218;ExcessHet=0.1072;FS=2.154;InbreedingCoeff=-0.0831;MLEAC=2;MLEAF=0.050;MQ=52.95;MQRankSum=0.431;QD=6.30;ReadPosRankSum=-2.820e-01;SOR=0.750	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:8,0:8:7:.:.:0,7,239	18	0	2	1
chr15	28843155	28843155	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G949A:p.E317K,	.	.	579	922	19	2	0	23	0.0123192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394768048	6.115e-05	0.0006	5.529e-05	6.746e-05	0.0004	4.9e-05	4.459e-05	0.0002	0.0002	0.0002	0.0003	0.0001	0.0004	3.914e-05	0	3.656e-05	2.32e-05	0.0004	0.0004	0.0056	0.0004	0.0004	0.0007	0.0003	0.0003	0.0004	0.0004	0.0006	0	0.0007	0	0.0004	0.0005	0	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0684565	0.09684	T	.	.	.	.	.	.	.	.	.	0.08560220995357702	0.08494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.810419	0.46176	T	0.02553128	0.01501	0.06522381	0.13188	0.02553128	0.01501	0.06522381	0.13188	-6.82	0.52708	T	.	.	0.104	0.18910	B	.	.	1.353607	0.17613	13.27	0.35185701157618721	0.02194	0.00170	0.01006	N	AEFCI	.	.	.	.	.	.	.	.	.	2.25599673312757E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-3.903000	0.00381	-5.980000	0.01533	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6504:0.3496:1.0E-4	5.503	0.16129	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	138.03	4	chr15	28843155	.	C	T	138.03	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-5.420e-01;DP=222;ExcessHet=0.1072;FS=2.154;InbreedingCoeff=-0.0705;MLEAC=2;MLEAF=0.050;MQ=52.95;MQRankSum=0.431;QD=6.27;ReadPosRankSum=-5.080e-01;SOR=0.750	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:8,0:8:24:.:.:0,24,260	18	0	2	1
chr15	28843163	28843163	C	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G941T:p.R314L,	.	.	591	916	13	2	0	17	0.00919416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1327731859	3.966e-05	0.0004	3.146e-05	4.845e-05	0.0002	2.969e-05	2.606e-05	0.0001	7.171e-05	0	0.0002	0	0.0002	3.955e-05	0	2.931e-05	0	0.0002	0.0004	0.0038	0.0003	0.0004	0.0006	0.0003	0.0002	0.0004	0.0004	0.0006	0	0.0004	0	0	0.0005	0	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.10313755	0.18943	T	.	.	.	.	.	.	.	.	.	0.02523710072021684	0.02474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.585041	0.21304	T	0.082116276	0.18901	0.11121759	0.26827	0.082116276	0.18901	0.11121759	0.26826	-7.835	0.59940	D	.	.	0.121	0.25265	B	.	.	0.795957	0.11666	8.248	0.52257582194253571	0.04714	0.01916	0.05858	N	AEFCI	.	.	.	.	.	.	.	.	.	1.98083583576756E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	0.432	0.15742	-0.605000	0.05757	-6.332000	0.01428	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.9998:0.0:2.0E-4	6.751	0.22677	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	137.98	5	chr15	28843163	.	C	A	137.98	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-9.000e-02;DP=233;ExcessHet=0.1072;FS=2.154;InbreedingCoeff=-0.0691;MLEAC=2;MLEAF=0.050;MQ=52.95;MQRankSum=0.431;QD=6.27;ReadPosRankSum=-1.085e+00;SOR=0.750	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:10,0:10:30:.:.:0,30,289	18	0	2	1
chr15	28843353	28843353	G	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.C751T:p.R251W,	.	.	742	770	6	4	0	14	0.00900901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	.	.	.	.	.	.	.	.	0.0010758	28	26028	rs529344201	0.0059	0.0044	0.0057	0.0061	0.0116	0.0057	0.0056	0.0091	0.0084	0.0011	0.0038	0.0061	4.248e-05	0.0012	0.0116	0.0067	0.0062	0.0112	0.0045	0.0041	0.0044	0.0046	0.0145	0.0042	0.0041	0.0113	0.0101	0.0009	0.0312	0.0052	0.0057	0.0003	0.0004	0.0096	0.0060	0.0056	0.0145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0063896775	0.00145	T	.	.	.	.	.	.	.	.	.	0.03401871037402047	0.03349	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.518148	0.16784	T	0.14974515	0.34123	0.119406305	0.28820	0.14974515	0.34123	0.119406305	0.28819	-4.523	0.31188	T	.	.	0.105	0.19235	B	.	.	1.128557	0.15150	11.63	0.60330034551597012	0.06437	0.01351	0.04634	N	AEFCI	.	.	.	.	.	.	.	.	.	1.72174777699312E-6	0.01202	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.062806	0.01542	0	0.0448725	0.03863	0.634	0.634	0.16889	-4.576000	0.00246	-1.531000	0.05232	0.340000	0.19754	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.3388:0.0:0.6612:0.0	3.055	0.05808	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	94.84	9	chr15	28843353	.	G	A	94.84	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.347;DP=214;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0591;MLEAC=1;MLEAF=0.026;MQ=44.10;MQRankSum=1.80;QD=11.86;ReadPosRankSum=2.45;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:12,0:12:33:.:.:0,33,495	18	0	1	2
chr15	28845615	28845615	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon6:c.G376A:p.A126T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1301597558	1.611e-06	3.786e-05	3.479e-06	0	2.657e-06	0	0	.	.	0	0	0	0	0	0	2.657e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12060499	0.22846	T	.	.	.	.	.	.	.	.	.	0.007561482229320058	0.00722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.624238	0.24084	T	0.043898452	0.06924	0.10940231	0.26367	0.043898452	0.06924	0.10940231	0.26366	-5.348	0.40415	T	.	.	0.096	0.15564	B	.	.	0.792457	0.11628	8.216	0.374056583282042	0.02463	0.00086	0.00577	N	AEFI	.	.	.	.	.	.	.	.	.	1.82346962211321E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.058706	0.01089	0	0.0448725	0.03863	0.311	0.311	0.15077	-0.477000	0.06663	-5.022000	0.01882	0.307000	0.19059	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	1032.33	36	chr15	28845615	.	C	T	1032.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.446e+00;DP=754;ExcessHet=0.0000;FS=2.006;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=57.20;MQRankSum=-3.930e-01;QD=12.90;ReadPosRankSum=0.698;SOR=1.075	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1231	19	0	1	1
chr15	29054732	29054732	C	T	exonic	APBA2	.	nonsynonymous SNV	APBA2:NM_001130414:exon3:c.C848T:p.S283L	.	.	398	1122	2	0	0	2	0.000890472	.	.	3462402	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.995	D	0.000	D	1.000	D	2.16	M	0.19	T	-0.316	T	0.378	T	0.821	4.747	26.5	4.96	2.280	5.469	17.228	0.222	0.0938796942508	.	.	4.31e-05	0	8.898e-05	0.0002	0	1.57e-05	0	6.179e-05	3.23e-05	5	154602	rs199985120	1.712e-05	1.779e-05	2.045e-05	1.377e-05	0.0003	1.175e-05	9.93e-06	0.0001	0.0001	0	0	0	0.0003	1.93e-05	0	5.396e-06	9.94e-05	2.319e-05	5.252e-05	5.249e-05	2.569e-05	8.056e-05	0.0008	2.555e-05	1.829e-05	0.0003	0.0002	0	0	0	0	0.0008	0	0	1.47e-05	0.0005	0.0004	0.001	0.78490	D	0.29	0.21011	T	1.0	0.90584	D	0.943	0.67921	D	0.000001	0.62929	D	0.000000	1	0.81001	D	2.255	0.64187	M	0.19	0.60236	T	-1.13	0.29114	N	0.722	0.92200	-0.3161	0.74531	T	0.378	0.73527	T	10	0.50790906	0.61926	D	0.09388	0.76152	D	0.222	0.51872	.	.	0.825040050735	0.82338	0.43017336382827925	0.42934	0.456294190807	0.45285	0.610453784466	0.54380	T	0.287754	0.66054	T	-0.0163387	0.49373	T	0.039078	0.72867	D	0.275478005409241	0.23981	T	0.963754	0.86559	D	0.3532879	0.57321	0.288726	0.54890	0.3532879	0.57322	0.288726	0.54889	-4.527	0.31240	T	.	.	0.116	0.33550	B	.;.;.;.;.	.;.;.;.;.	3.416041	0.47413	22.5	0.99925839538126981	0.99042	0.98346	0.81852	D	AEFBI	0.704090	0.65992	D	0.680841790562385	0.78376	6.859339	0.641758512173163	0.77998	6.788593	0.999999989366445	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.96	4.96	0.65153	5.544000	0.66938	3.241000	0.36966	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.570000	0.30651	0.0:1.0:0.0:0.0	17.228	0.86858	970	0.06235	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2031.98	33	chr15	29054732	.	C	T	2031.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.240e-01;DP=848;ExcessHet=0.0000;FS=4.963;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.92;ReadPosRankSum=-2.730e-01;SOR=1.027	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1088	20	0	1	0
chr15	29124687	29124687	C	G	exonic	FAM189A1	.	nonsynonymous SNV	FAM189A1:NM_015307:exon10:c.G1303C:p.A435P,	.	.	426	1057	37	2	0	41	0.0190255	1.0000	0.972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.929	P	0.519	P	0.406	N	0.993	N	0.895	L	4.1	T	-0.940	T	0.008	T	0.144	2.523	14.40	2.65	0.506	0.638	6.469	0.070	.	.	0.00239617	0.0068	0.0022	0.0071	0	0	0.0123	0.0266	0.0029	0.0021604	334	154602	rs61736885	0.0090	0.0086	0.0091	0.0089	0.0400	0.0089	0.0088	0.0358	0.0341	0.0024	0.0050	0.0168	8.395e-05	0.0009	0.0400	0.0101	0.0092	0.0025	0.0066	0.0066	0.0068	0.0064	0.0096	0.0063	0.0062	0.0089	0.0087	0.0024	0.0011	0.0096	0.0176	0	0.0007	0.0374	0.0095	0.0085	0.0039	0.293	0.14843	T	0.418	0.14200	T	0.929	0.51690	P	0.519	0.48163	P	0.406465	0.04566	N	1.383280	0.993407	0.23718	N	0.895	0.22405	L	4.1	0.02944	T	-0.43	0.14390	N	0.112	0.09914	-0.9404	0.42552	T	0.008	0.02926	T	9	0.005343735	0.00117	T	.	.	.	0.070	0.20419	.	.	0.112648838833	0.10856	0.12152855287662725	0.12079	.	.	0.328835964203	0.14758	T	0.00334	0.02748	T	-0.606268	0.00133	T	-0.634243	0.10094	T	0.00694505413504118	0.00079	T	0.29847	0.05558	T	0.1109204	0.26215	0.1353888	0.32417	0.1109204	0.26215	0.1353888	0.32416	-3.344	0.14311	T	.	.	0.070	0.03515	B	.	.	2.485933	0.32067	18.93	0.98772934176810789	0.46002	0.52931	0.29249	D	AEFDBCIJ	0.438409	0.49781	N	-0.269605845737956	0.30328	1.690033	-0.377055002329031	0.25682	1.413872	0.999585297186929	0.40607	0.700653	0.57754	0	0.588015	0.36545	0	0.717052	0.78885	0	0.613276	0.41899	0	.	.	4.56	2.65	0.30588	0.667000	0.24794	0.835000	0.21986	0.537000	0.25018	0.437000	0.26463	0.720000	0.26347	0.032000	0.13371	0.1796:0.7254:0.0:0.095	6.469	0.21197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	742.98	83	chr15	29124687	.	C	G	742.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.600e-01;DP=783;ExcessHet=0.0000;FS=4.235;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.95;ReadPosRankSum=0.311;SOR=1.153	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1094	20	0	1	0
chr15	29137112	29137112	T	A	exonic	FAM189A1	.	nonsynonymous SNV	FAM189A1:NM_015307:exon6:c.A713T:p.D238V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	2.28	M	3.92	T	-1.196	T	0.043	T	0.745	3.858	19.60	5.37	2.027	7.756	14.551	0.414	0.073911785432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.034e-06	3.42e-06	2.983e-06	3.087e-06	2.857e-06	7.1e-07	4.8e-07	7.6e-07	2.1e-07	0	0	0	0	0	0	2.857e-06	1.832e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000077	0.52346	D	0.166860	1	0.81001	D	2.785	0.81254	M	3.92	0.03462	T	-7.5	0.95045	D	0.82	0.81559	-1.1961	0.00181	T	0.043	0.18493	T	10	0.7994902	0.79372	D	0.073912	0.71909	D	0.414	0.72479	0.35	0.34760	0.294918367191	0.29099	0.6919526040654352	0.69135	.	.	0.606605291367	0.53836	T	0.211413	0.57217	T	0.0649203	0.60225	T	-0.144523	0.59723	T	0.997806370258331	0.92464	D	0.972503	0.90119	D	0.50375456	0.67315	0.5189956	0.72209	0.50375456	0.67316	0.5189956	0.72209	-13.186	0.90114	D	.	.	0.774	0.76116	P	.	.	4.687494	0.75076	26.3	0.99406613541251887	0.63075	0.97440	0.74764	D	AEFDBI	0.929013	0.91411	D	0.653622489093833	0.76603	6.517172	0.580968771597665	0.73577	5.993119	0.999999917031903	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.37	5.37	0.76949	7.736000	0.83883	7.692000	0.65839	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	14.551	0.67654	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1637.98	33	chr15	29137112	.	T	A	1637.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.16;DP=899;ExcessHet=0.0000;FS=3.967;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.05;ReadPosRankSum=-3.017e+00;SOR=1.024	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1298	20	0	1	0
chr15	30088800	30088800	G	A	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon9:c.G652A:p.A218T,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	.	.	.	.	.	.	1.000	N	.	.	2.66	T	-0.992	T	0.030	T	0.206	1.718	11.70	-1.16	-0.221	0.079	4.148	0.052	.	.	.	0.0057	0	0	0	0	0.0068	0	0.0109	0.0002689	7	26028	rs4287545	0.0018	0.0033	0.0018	0.0019	0.0020	0.0018	0.0017	0.0018	0.0018	0.0008	0.0020	0.0004	0.0019	0.0018	0.0010	0.0019	0.0029	0.0010	0.0044	0.0060	0.0044	0.0044	0.0066	0.0041	0.0040	0.0060	0.0058	0.0010	0	0.0066	0.0015	0.0006	0.0032	0	0.0065	0.0020	0.0053	0.086	0.32610	T	0.103	0.38305	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.535	0.73915	M	1.98	0.21865	T	-2.55	0.55181	D	0.081	0.05670	-0.9917	0.32167	T	0.030	0.12804	T	6	0.008475244	0.00192	T	.	.	.	.	.	.	.	0.0401082797425	0.02173	0.14494084004907667	0.14417	2.10514115045	0.94873	.	.	.	0.026141	0.19408	T	-0.252404	0.13805	T	-0.600338	0.12783	T	0.0171641888311946	0.00461	T	.	.	.	0.059740167	0.12177	0.099883825	0.23863	0.059740167	0.12177	0.099883825	0.23862	-4.518	0.31123	T	.	.	0.104	0.18991	B	.	.	1.288092	0.16887	12.83	0.92723156473253432	0.22220	0.00850	0.03394	N	AEFI	0.034978	0.04426	N	-1.07308105278837	0.07143	0.3309249	-1.29680487304776	0.04474	0.21111	1.99687102599383E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.38	-1.16	0.09181	0.162000	0.16318	4.816000	0.45080	-0.653000	0.04380	0.000000	0.06391	0.998000	0.33993	0.000000	0.00833	0.4413:0.0:0.5587:0.0	4.148	0.09692	483	0.77230	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	240.98	33	chr15	30088800	.	G	A	240.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.691;DP=730;ExcessHet=0.0000;FS=22.668;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=31.30;MQRankSum=1.97;QD=8.61;ReadPosRankSum=-2.906e+00;SOR=2.209	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1333	20	0	1	0
chr15	30089711	30089711	C	G	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon12:c.C886G:p.P296A,	.	.	480	1006	35	1	0	37	0.0180576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	.	.	.	.	.	.	1.000	N	.	.	2.05	T	-0.963	T	0.029	T	0.117	0.376	6.043	-2.95	-0.930	-0.712	10.425	0.041	0.0027425824986	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879887589	0.0003	0.0020	0.0002	0.0003	0.0017	0.0002	0.0002	0.0015	0.0014	6.978e-05	9.133e-05	0.0004	5.099e-05	0.0004	0.0003	0.0002	0.0002	0.0017	0.0003	0.0016	0.0003	0.0002	0.0006	0.0002	0.0002	0.0002	0.0002	0.0002	0	0.0002	0	0.0002	0.0003	0	0.0003	0.0006	0.0006	0.227	0.18498	T	0.496	0.11335	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.93	0.51437	L	2.05	0.20664	T	-3.58	0.69118	D	0.106	0.09066	-0.9630	0.38606	T	0.029	0.12541	T	6	0.094885945	0.16906	T	0.002743	0.05665	T	.	.	.	.	0.0716867268079	0.06686	0.11248298003423093	0.11177	1.31169626058	0.83235	.	.	.	0.030108	0.21421	T	-0.314437	0.07363	T	-0.689443	0.06421	T	0.199820421397174	0.20406	T	.	.	.	0.048880808	0.08589	0.08423339	0.19361	0.048880808	0.08589	0.08423339	0.19361	-6.842	0.52871	T	.	.	0.087	0.11076	B	.	.	-0.105049	0.03612	0.711	0.83777591716518451	0.14914	0.00215	0.01220	N	AEFI	0.019229	0.00649	N	-1.00919157480949	0.08412	0.3943451	-1.25831076326989	0.05009	0.2376793	7.76039442725622E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	1.48	-2.95	0.05229	-0.155000	0.10101	-2.034000	0.04313	0.283000	0.18654	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2959:0.7041:0.0	10.425	0.43559	483	0.77230	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	75.22	39	chr15	30089711	.	C	G	75.22	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.009e+00;DP=684;ExcessHet=0.1072;FS=3.745;InbreedingCoeff=-0.0536;MLEAC=2;MLEAF=0.048;MQ=35.09;MQRankSum=-1.332e+00;QD=0.70;ReadPosRankSum=2.45;SOR=0.513	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,979	19	0	2	0
chr15	30089817	30089817	G	A	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon12:c.G992A:p.R331H,	.	.	466	1049	7	0	0	7	0.00332542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	.	.	.	.	.	.	1.000	N	.	.	1.96	T	-0.999	T	0.035	T	0.155	-1.218	0.064	-0.881	-0.324	2.673	3.086	0.065	0.000900771032752	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1488768645	0.0001	0.0006	9.951e-05	0.0002	0.0010	0.0001	0.0001	0.0008	0.0008	0.0002	0.0002	7.818e-05	2.532e-05	0.0004	0.0002	6.575e-05	0.0002	0.0010	0.0005	0.0029	0.0004	0.0005	0.0009	0.0004	0.0004	0.0005	0.0004	0.0008	0	0.0003	0	0.0002	0.0005	0	0.0004	0.0012	0.0009	0.196	0.20683	T	0.607	0.07766	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	1.96	0.22270	T	-0.41	0.14000	N	0.036	0.01068	-0.9994	0.30087	T	0.035	0.15117	T	6	0.079330474	0.12748	T	9.01E-4	0.00844	T	.	.	.	.	0.0611884634855	0.05136	0.08154418905999827	0.08089	1.58871443814	0.88490	.	.	.	0.001544	0.00986	T	-0.310092	0.07740	T	-0.613364	0.11713	T	0.0723647512045235	0.08979	T	.	.	.	0.018165141	0.00338	0.026209326	0.00698	0.018165141	0.00337	0.026209326	0.00698	-5.732	0.43977	T	.	.	0.065	0.01960	B	.	.	1.046405	0.14271	10.85	0.52266347466046803	0.04716	0.06355	0.12354	N	AEFI	0.059543	0.11253	N	-0.810811843792159	0.13033	0.6392938	-0.978440891905038	0.10270	0.5161716	1.86297986819133E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.48	-0.881	0.10070	3.050000	0.49568	-0.274000	0.10324	-0.727000	0.03751	1.000000	0.71638	0.000000	0.08366	0.000000	0.00833	0.3332:0.2282:0.4386:0.0	3.086	0.05900	483	0.77230	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1	174.61	39	chr15	30089817	.	G	A	174.61	.	AC=4;AF=0.100;AN=40;BaseQRankSum=1.10;DP=737;ExcessHet=0.0082;FS=15.051;InbreedingCoeff=0.3664;MLEAC=4;MLEAF=0.100;MQ=36.04;MQRankSum=-9.540e-01;QD=3.01;ReadPosRankSum=-5.390e-01;SOR=2.820	GT:AD:DP:GQ:PL	0/0:33,0:33:90:0,90,1350	17	1	2	1
chr15	30092070	30092070	G	C	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon15:c.G1305C:p.E435D,	.	.	421	1095	6	0	0	6	0.00273224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	.	.	.	.	.	.	1.000	N	.	.	-2.66	D	-0.371	T	0.550	D	0.16	0.217	5.172	0.421	0.157	1.148	1.834	0.130	0.0255764314618	.	.	0.0027	0.0010	0.0037	0.0012	0.0019	0.0036	0	0.0014	9.7e-05	15	154602	rs560259389	0.0023	0.0025	0.0024	0.0023	0.0027	0.0023	0.0022	0.0026	0.0025	0.0006	0.0015	3.862e-05	0.0008	0.0014	0.0009	0.0027	0.0023	0.0011	0.0020	0.0023	0.0020	0.0020	0.0030	0.0018	0.0017	0.0026	0.0025	0.0007	0.0023	0.0028	0	0.0006	0.0011	0	0.0030	0.0025	0.0011	0.319	0.13610	T	0.019	0.59159	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.16	0.60381	M	-2.6	0.89888	D	-1.44	0.35399	N	0.185	0.20129	-0.3712	0.72925	T	0.550	0.83508	D	6	0.01218906	0.00263	T	0.025576	0.48542	D	.	.	.	.	0.635344329144	0.63235	0.0841374263308183	0.08347	1.58952772393	0.88501	.	.	.	0.013322	0.11547	T	-0.36152	0.04045	T	-0.295125	0.45236	T	0.0070726445581003	0.00081	T	.	.	.	0.056186486	0.11020	0.048403718	0.07183	0.056186486	0.11020	0.048403718	0.07183	-3.558	0.17253	T	.	.	0.133	0.28892	B	.	.	1.457245	0.18793	13.93	0.94017185771196188	0.24123	0.15391	0.18889	N	AEFI	0.066944	0.13135	N	-0.562171036050756	0.20103	1.057348	-0.74509489759243	0.15842	0.8352344	1.75589563991285E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	1.44	0.421	0.15669	1.456000	0.34811	0.083000	0.14415	0.200000	0.17917	0.483000	0.26824	0.001000	0.17328	0.048000	0.15020	0.2373:0.0:0.441:0.3217	1.834	0.02947	484	0.77165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	184.33	33	chr15	30092070	.	G	C	184.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-8.830e-01;DP=673;ExcessHet=0.0000;FS=2.985;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=49.63;MQRankSum=-1.067e+00;QD=4.10;ReadPosRankSum=-2.128e+00;SOR=1.270	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1029	19	0	1	1
chr15	30144800	30144800	A	G	exonic	GOLGA8T	.	nonsynonymous SNV	GOLGA8T:NM_001355469:exon16:c.A1390G:p.K464E,	.	.	141	1373	5	3	0	11	0.00398984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0104	0.0708	0	0	0	0.0026	0	0.0060	3.84e-05	1	26028	rs768624819	0.0011	0.0015	0.0011	0.0011	0.0131	0.0011	0.0010	0.0121	0.0116	0.0131	0.0015	0.0005	0.0006	0.0004	0.0050	0.0007	0.0018	0.0015	0.0035	0.0051	0.0037	0.0033	0.0128	0.0032	0.0031	0.0117	0.0113	0.0128	0	0.0013	0	0.0007	0	0	0.0010	0.0011	0.0016	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.0	0.21473	T	1.0	0.01408	N	0.117	0.10626	.	.	.	.	.	.	.	0.004632175	0.00097	T	.	.	.	.	.	.	.	0.043077524339	0.03247	0.07507574137809991	0.07443	2.24570123189	0.96051	.	.	.	.	.	.	-0.643758	0.00079	T	-0.681234	0.06909	T	.	.	.	.	.	.	0.030751234	0.02793	0.052468512	0.08650	0.030751234	0.02793	0.052468512	0.08650	-3.834	0.21313	T	.	.	0.056	0.00505	B	.	.	0.369055	0.07412	4.043	0.27797692486325321	0.01397	0.23657	0.22147	N	AEFI	0.040625	0.06068	N	.	.	.	.	.	.	1.27013425035394E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	1.48	-1.12	0.09306	2.007000	0.40503	-1.384000	0.05566	-0.943000	0.02073	1.000000	0.71638	0.000000	0.08366	0.001000	0.02609	0.1929:0.4131:0.394:0.0	5.752	0.17418	826	0.39940	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	344.33	42	chr15	30144800	.	A	G	344.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.821e+00;DP=800;ExcessHet=0.0000;FS=1.790;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=39.78;MQRankSum=-2.227e+00;QD=2.59;ReadPosRankSum=2.16;SOR=0.901	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,990	19	0	1	1
chr15	30367498	30367498	C	T	exonic	CHRFAM7A;CHRNA7	.	nonsynonymous SNV	CHRNA7:NM_000746:exon5:c.G562A:p.V188M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.46	M	-2.36	D	0.726	D	0.792	D	0.56	4.155	21.5	3.23	1.535	7.232	12.347	0.817	0.103915429869	.	.	8.32e-06	0	0	0	0	1.511e-05	0	0	3.84e-05	1	26028	rs766993157	4.187e-05	6.237e-05	4.099e-05	4.277e-05	5.235e-05	3.322e-05	3.011e-05	4.106e-05	3.755e-05	3.002e-05	0	0	0	0	0	5.235e-05	0	2.323e-05	3.975e-05	4.607e-05	2.592e-05	5.421e-05	0.0002	1.727e-05	1.137e-05	8.08e-06	3.02e-06	4.874e-05	0	0	0	0.0002	0	0	2.959e-05	0	0.0002	0.001	0.91255	D	0.02	0.58613	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.62929	D	0.055753	1	0.81001	D	3.945	0.96414	H	-2.36	0.88143	D	-2.66	0.59389	D	0.889	0.88798	0.726	0.93500	D	0.792	0.92952	D	10	0.8639289	0.85626	D	0.103915	0.77821	D	0.817	0.94123	0.638	0.77470	0.799336567901	0.79746	0.7512883835568009	0.75075	.	.	.	.	.	0.430055	0.77865	T	0.0714871	0.61029	D	0.0470567	0.73390	D	0.995194375514984	0.86995	D	0.992842	0.97650	D	0.672776	0.76582	0.6421947	0.79091	0.672776	0.76583	0.6421947	0.79092	-11.968	0.84695	D	.	.	0.963	0.92607	P	.;.;.	.;.;.	5.332661	0.89486	30	0.99879510057093868	0.95572	0.93759	0.59110	D	AEFGI	0.845252	0.76217	D	0.625082920891182	0.74764	6.188608	0.521766079066619	0.69455	5.363123	0.953933083965326	0.28102	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	3.23	3.23	0.36150	7.297000	0.78143	7.519000	0.59733	0.291000	0.18778	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	0.0:1.0:0.0:0.0	12.347	0.54454	975	0.05339	Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1718.98	37	chr15	30367498	.	C	T	1718.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=1175;ExcessHet=0.0000;FS=0.609;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=46.64;MQRankSum=-4.457e+00;QD=3.87;ReadPosRankSum=0.384;SOR=0.745	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1376	20	0	1	0
chr15	30522714	30522714	G	T	exonic	LOC100996413	.	nonsynonymous SNV	LOC100996413:NM_001365376:exon2:c.C329A:p.A110E,	.	.	1303	218	0	1	0	2	0.00456621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1342138821	1.807e-05	5.242e-05	1.124e-05	2.594e-05	0.0020	8.5e-06	6.15e-06	0.0004	0.0002	0.0002	0	0	0	0	0.0020	1.095e-05	6.005e-05	0	2.969e-05	2.155e-05	3.879e-05	2.021e-05	5.958e-05	7.89e-06	4.19e-06	1.58e-05	8.38e-06	0	0	0	0	0	0	0	5.958e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04545	33.83	3	chr15	30522714	.	G	T	33.83	.	AC=1;AF=0.045;AN=22;BaseQRankSum=-9.670e-01;DP=26;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1241;MLEAC=2;MLEAF=0.091;MQ=27.00;MQRankSum=0.00;QD=11.28;ReadPosRankSum=0.00;SOR=0.223	GT:AD:DP:GQ:PL	./.	10	0	1	10
chr15	30608689	30608689	A	C	exonic	GOLGA8H;GOLGA8N;GOLGA8T	.	nonsynonymous SNV	GOLGA8H:NM_001282490:exon8:c.A524C:p.Q175P	.	.	441	1072	9	0	0	9	0.00418021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0048349028054	.	0.000599042	0.0004	0	0	0	0	3.137e-05	0	0.0021	0.0001153	3	26028	rs528697991	0.0002	0.0002	8.336e-05	0.0002	0.0022	0.0001	0.0001	0.0020	0.0019	0	2.286e-05	0	0	0	0.0007	8.49e-06	0.0001	0.0022	6.796e-05	7.237e-05	3.983e-05	9.748e-05	0.0017	3.63e-05	2.799e-05	0.0009	0.0006	0	0	6.713e-05	0	0	0	0.0035	0	0	0.0017	0.001	0.78490	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.999976	0.18612	N	3.375	0.91388	M	1.58	0.29085	T	-4.37	0.77061	D	0.359	0.40063	.	.	.	.	.	.	.	0.019641727	0.00441	T	0.004835	0.12098	T	.	.	.	.	0.0716867268079	0.06686	0.4793366454140128	0.47853	0.0943749820084	0.10650	.	.	.	0.311943	0.68380	T	-0.455482	0.01048	T	-0.451672	0.27513	T	.	.	.	0.823318	0.48387	T	0.29349217	0.52315	0.3471876	0.60377	0.29349217	0.52315	0.3471876	0.60376	-8.634	0.65313	D	.	.	0.367	0.57640	A	.	.	2.104746	0.26779	17.24	0.9615815482293687	0.28890	0.00181	0.01060	N	AEFI	0.072525	0.14477	N	.	.	.	.	.	.	1.72060249256143E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	0.883000	0.27838	3.870000	0.40183	0.140000	0.17674	0.071000	0.22100	1.000000	0.68203	0.012000	0.09680	0.9995:0.0:5.0E-4:0.0	4.575	0.11623	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1333.98	93	chr15	30608689	.	A	C	1333.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.833e+00;DP=1665;ExcessHet=0.0000;FS=19.154;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.06;MQRankSum=-7.355e+00;QD=12.02;ReadPosRankSum=0.718;SOR=2.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:138,0:138:99:.:.:0,120,1800	20	0	1	0
chr15	30608747	30608747	G	C	exonic	GOLGA8H;GOLGA8N;GOLGA8T	.	nonsynonymous SNV	GOLGA8H:NM_001282490:exon8:c.G582C:p.K194N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00498358048796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0019	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0006	2.753e-05	0.0002	0.0001	0	0.0005	0.0009	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.18	0.29442	T	.	.	.	.	.	.	.	.	.	.	0.993723	0.23659	N	2.48	0.72069	M	1.9	0.23486	T	-1.96	0.45404	N	0.121	0.11197	.	.	.	.	.	.	.	0.13650501	0.25972	T	0.004984	0.12566	T	.	.	.	.	0.207176502487	0.20327	0.05885526678583752	0.05826	0.0158059045702	0.01510	.	.	.	0.009285	0.08464	T	-0.296489	0.08995	T	-0.663663	0.08021	T	.	.	.	0.60444	0.22695	T	0.12715618	0.29764	0.0855234	0.19753	0.12715618	0.29764	0.0855234	0.19752	-4.597	0.32134	T	.	.	0.218	0.44758	B	.	.	0.790856	0.11611	8.201	0.9625796049736377	0.29205	0.07789	0.13786	N	AEFI	0.085690	0.17372	N	.	.	.	.	.	.	2.14335074800116E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	-0.042000	0.12016	0.273000	0.16680	0.000000	0.17513	0.681000	0.28448	0.051000	0.21832	0.010000	0.09038	6.0E-4:0.0:0.9994:0.0	5.935	0.18398	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	51.44	68	chr15	30608747	.	G	C	51.44	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-3.619e+00;DP=1505;ExcessHet=0.0000;FS=169.147;InbreedingCoeff=-0.1078;MLEAC=1;MLEAF=0.031;MQ=47.00;MQRankSum=-9.880e-01;QD=0.38;ReadPosRankSum=2.10;SOR=8.497	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	15	0	1	5
chr15	30905381	30905381	G	A	exonic	FAN1	.	nonsynonymous SNV	FAN1:NM_001146094:exon2:c.G718A:p.E240K	Interstitial nephritis, karyomegalic, Autosomal recessive	.	8	1504	9	1	0	11	0.00364359	.	.	725976	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.27	T	0.154	B	0.015	B	0.269	N	1.000	N	1.3	L	1.08	T	-0.998	T	0.108	T	0.169	1.510	11.00	4.15	1.515	2.973	13.326	0.042	0.0113563000297	0.0036	0.00119808	0.0035	0.0009	0.0019	0	0.0011	0.0052	0.0077	0.0022	0.0036157	559	154602	rs150748572	0.0053	0.0053	0.0055	0.0051	0.0062	0.0052	0.0052	0.0061	0.0060	0.0008	0.0023	0.0062	2.519e-05	0.0013	0.0024	0.0062	0.0053	0.0027	0.0035	0.0035	0.0039	0.0032	0.0058	0.0033	0.0032	0.0053	0.0051	0.0007	0	0.0042	0.0078	0	0.0008	0	0.0058	0.0028	0.0017	0.151	0.24564	T	0.043	0.49942	D	0.004	0.28120	B	0.004	0.17295	B	0.269329	0.03762	N	1.404000	1	0.08975	N	1.62	0.41497	L	1.08	0.39401	T	-1.17	0.29933	N	0.112	0.09914	-0.9979	0.30507	T	0.108	0.39075	T	10	0.0041305125	0.00081	T	0.011356	0.28906	T	0.042	0.11227	.	.	0.233785782151	0.22967	0.18437955416716598	0.18356	0.110578713255	0.12480	0.248333349824	0.03594	T	0.017505	0.14269	T	-0.521727	0.00430	T	-0.515662	0.20735	T	0.012061260324532	0.00191	T	0.723028	0.33655	T	0.07158659	0.15860	0.080639124	0.18256	0.07214172	0.16026	0.07963211	0.17945	-4.105	0.25364	T	.	.	0.072	0.08033	B	.;.;.;.	.;.;.;.	1.877588	0.23851	16.17	0.96421877544336299	0.29761	0.68497	0.33825	D	AEFGBI	0.120806	0.23516	N	-0.613830041422907	0.18528	0.9626492	-0.56622230409659	0.20376	1.097536	0.999987662801808	0.51787	0.706298	0.61202	0	0.662677	0.63036	0	0.709663	0.75317	0	0.669	0.65921	0	.	.	5.07	4.15	0.47978	3.001000	0.49176	3.385000	0.38029	-0.106000	0.15538	0.673000	0.28375	0.512000	0.25262	0.078000	0.17132	0.076:0.0:0.924:0.0	13.326	0.59898	867	0.32089	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2039.98	40	chr15	30905381	.	G	A	2039.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.39;DP=1062;ExcessHet=0.0000;FS=1.415;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.81;ReadPosRankSum=0.606;SOR=0.878	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	20	0	1	0
chr15	30920573	30920573	C	T	exonic	FAN1	.	nonsynonymous SNV	FAN1:NM_014967:exon7:c.C1972T:p.R658W,	Interstitial nephritis, karyomegalic, Autosomal recessive	.	9	1510	3	0	0	3	0.000992392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.85	M	0.94	T	-0.393	T	0.300	T	0.887	4.119	21.2	4.92	2.790	3.636	14.490	0.398	0.0872487289573	0.0002	.	5.766e-05	0	0	0	0	8.991e-05	0	6.057e-05	6.47e-05	10	154602	rs140501687	4.8e-05	4.857e-05	4.912e-05	4.687e-05	0.0002	3.869e-05	3.549e-05	7.194e-05	5.533e-05	0	0.0001	0	0	0	0.0002	4.323e-05	6.638e-05	0.0001	4.603e-05	4.598e-05	1.286e-05	8.077e-05	0.0003	2.111e-05	1.528e-05	8.881e-05	5.389e-05	0	0	0.0003	0	0	0	0	2.941e-05	0	0.0002	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.965	0.85198	M	0.94	0.43672	T	-6.04	0.89759	D	0.782	0.77883	-0.3928	0.72253	T	0.300	0.67083	T	10	0.84758985	0.83928	D	0.087249	0.74898	D	0.398	0.71242	.	.	0.615448732319	0.61234	0.85368994730734	0.85330	0.504584776832	0.48730	0.638150155544	0.58300	T	0.29599	0.66863	T	0.0527892	0.58701	T	0.10248	0.77074	D	0.813649713993073	0.47308	D	0.959104	0.84591	D	0.824213	0.85505	0.49477777	0.70781	0.824213	0.85507	0.49477777	0.70781	-9.311	0.69676	D	.	.	0.480	0.63637	A	.	.	4.831108	0.78788	27.0	0.99928375846288819	0.99222	0.96967	0.71926	D	AEFBI	0.645111	0.62112	D	0.781251275264688	0.84921	8.424376	0.720321879852031	0.83922	8.150523	0.999998591303864	0.74766	0.732398	0.92422	0	0.71359	0.82159	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.89	4.92	0.64147	3.725000	0.54697	3.176000	0.36634	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.823000	0.38780	0.2492:0.7508:0.0:0.0	14.490	0.67226	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	825.98	56	chr15	30920573	.	C	T	825.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.206;DP=854;ExcessHet=0.0000;FS=1.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.02;ReadPosRankSum=-1.949e+00;SOR=0.866	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1071	20	0	1	0
chr15	31026219	31026219	C	G	exonic	TRPM1	.	nonsynonymous SNV	TRPM1:NM_001252020:exon26:c.G3600C:p.Q1200H	Night blindness, congenital stationary (complete), 1C, autosomal recessive	.	0	1514	8	0	0	8	0.00263505	.	.	178106	not_specified|not_provided|Congenital_stationary_night_blindness_1C	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013183,MedGen:C2750747,OMIM:613216,Orphanet:215	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.936	P	0.43	B	0.000	N	1.000	D	2.695	M	1.14	T	-0.959	T	0.106	T	0.285	3.895	19.80	-0.35	0.087	0.970	6.08	0.165	0.0190219443106	0.0032	0.00119808	0.0037	0.0009	0.0015	0	0.0014	0.0053	0.0078	0.0030	0.0037839	585	154602	rs182549235	0.0052	0.0052	0.0053	0.0050	0.0059	0.0051	0.0050	0.0058	0.0057	0.0007	0.0022	0.0063	2.519e-05	0.0014	0.0024	0.0059	0.0051	0.0034	0.0035	0.0035	0.0036	0.0033	0.0055	0.0032	0.0031	0.0050	0.0049	0.0008	0	0.0042	0.0078	0	0.0014	0	0.0055	0.0028	0.0017	0.037	0.43085	D	0.004	0.83351	D	0.79	0.44599	P	0.244	0.38795	B	0.000000	0.84330	N	0.050999	0.997099	0.43626	D	2.705	0.79137	M	1.14	0.38397	T	-3.09	0.66436	D	0.443	0.49328	-0.9590	0.39368	T	0.106	0.38783	T	10	0.0092971325	0.00210	T	0.019022	0.41266	T	0.165	0.42395	0.316	0.29258	0.391313282164	0.38746	0.5628400395471059	0.56211	0.242074247007	0.26724	0.489015996456	0.37302	T	0.32201	0.70552	T	-0.459677	0.00988	T	-0.429345	0.30008	T	0.0481781576438697	0.05176	T	0.976302	0.92930	D	0.33441207	0.55830	0.24030623	0.49401	0.3464819	0.56791	0.2775165	0.53704	-8.685	0.66531	D	0.3409272902053603	0.43866	0.269	0.56927	B	.;.;.;.;.;.	.;.;.;.;.;.	3.238427	0.44194	21.9	0.99591645449167321	0.73631	0.86131	0.45355	D	AEFBHCI	0.386541	0.46686	N	0.138661289423592	0.48275	3.041888	0.0843904864032135	0.43763	2.671415	0.999996467088225	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.5	-0.35	0.11979	0.725000	0.25638	0.598000	0.19894	0.549000	0.26987	1.000000	0.71638	0.998000	0.33993	0.995000	0.73285	0.0:0.4071:0.1381:0.4548	6.08	0.19160	819	0.41190	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1445.98	34	chr15	31026219	.	C	G	1445.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.646e+00;DP=811;ExcessHet=0.0000;FS=0.706;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.80;ReadPosRankSum=1.51;SOR=0.574	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1094	20	0	1	0
chr15	31050561	31050561	G	T	exonic	TRPM1	.	nonsynonymous SNV	TRPM1:NM_001252020:exon11:c.C1336A:p.P446T	Night blindness, congenital stationary (complete), 1C, autosomal recessive	.	0	1506	16	0	0	16	0.00528402	.	.	338386	not_provided|TRPM1-related_disorder|Congenital_stationary_night_blindness_1C	MedGen:C3661900|.|MONDO:MONDO:0013183,MedGen:C2750747,OMIM:613216,Orphanet:215	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.169	B	0.05	B	0.001	N	1.000	D	0	N	0.79	T	-1.044	T	0.071	T	0.343	1.163	9.733	4.97	2.298	4.287	13.720	0.071	0.0173083298104	0.0002	0.000798722	0.0010	0	0.0003	0.0001	0	4.497e-05	0	0.0070	0.0008409	130	154602	rs374376006	0.0005	0.0005	0.0003	0.0008	0.0080	0.0005	0.0005	0.0075	0.0073	0	0	0	2.519e-05	0	0.0023	3.058e-05	0.0005	0.0080	0.0003	0.0003	0.0001	0.0005	0.0091	0.0002	0.0002	0.0070	0.0062	0	0	0	0	0	0	0	7.352e-05	0	0.0091	0.09	0.34982	T	0.36	0.17014	T	0.105	0.25993	B	0.036	0.22909	B	0.001441	0.38980	N	0.261461	0.978652	0.39483	D	0	0.06538	N	0.79	0.53088	T	-0.73	0.20576	N	0.191	0.24260	-1.0441	0.16089	T	0.071	0.28773	T	10	0.004579723	0.00095	T	0.017308	0.38957	T	0.071	0.20720	.	.	0.33110744837	0.32714	0.23257025644392834	0.23172	0.235449902701	0.26076	0.414190948009	0.27037	T	0.112655	0.42909	T	-0.445086	0.01207	T	-0.407266	0.32542	T	0.0387853520786441	0.03471	T	0.831417	0.49863	T	0.10582837	0.25023	0.0833775	0.19104	0.12601747	0.29527	0.07812132	0.17469	-6.174	0.49283	T	.	.	0.072	0.05579	B	.;.;.;.;.	.;.;.;.;.	1.885926	0.23953	16.21	0.97583065684799442	0.34747	0.96903	0.71570	D	AEFDBCI	0.393222	0.47095	N	-0.409194926242118	0.25145	1.36289	-0.284009402525718	0.28623	1.597451	0.999999997988619	0.74766	0.615755	0.39536	0	0.618376	0.53248	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	4.97	4.97	0.65419	3.527000	0.53272	0.710000	0.20927	0.618000	0.50648	0.996000	0.39380	0.554000	0.25484	0.065000	0.16320	0.0:0.0:1.0:0.0	13.720	0.62204	819	0.41190	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1619.98	42	chr15	31050561	.	G	T	1619.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.371e+00;DP=887;ExcessHet=0.0000;FS=6.529;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.00;ReadPosRankSum=-1.758e+00;SOR=0.309	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485	20	0	1	0
chr15	31229304	31229304	G	-	exonic	LOC283710	.	frameshift deletion	LOC283710:NM_001243538:exon2:c.75delC:p.R26Gfs*101,	.	.	454	9	11	367	681	1426	0.976409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	53256.77	60	chr15	31229302	.	CGG	C,CG	53256.77	.	AC=29,13;AF=0.690,0.310;AN=42;BaseQRankSum=1.54;DP=1738;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=30,12;MLEAF=0.714,0.286;MQ=60.00;MQRankSum=0.00;QD=28.91;ReadPosRankSum=-3.970e-01;SOR=0.473	GT:AD:DP:GQ:PL	2/2:1,5,50:56:17:1446,1260,1287,138,17,0	0	10	0	0
chr15	32168303	32168303	G	A	exonic	CHRNA7	.	nonsynonymous SNV	CHRNA7:NM_000746:exon10:c.G1354A:p.E452K	Schizophrenia, neurophysiologic defect in	.	51	1428	43	0	0	43	0.0148327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.948	P	0.531	P	0.002	N	1.000	D	1.55	L	1.82	T	-1.121	T	0.070	T	0.591	4.169	21.6	3.99	2.511	7.224	14.406	0.159	0.00657931159067	.	.	0.0046	0	0	0	.	0.0081	.	0	0.0002305	6	26028	rs199504752	0.0045	0.0050	0.0044	0.0047	0.0153	0.0044	0.0044	0.0121	0.0109	0.0007	0.0049	0.0080	2.88e-05	0.0015	0.0153	0.0045	0.0053	0.0085	0.0034	0.0039	0.0036	0.0032	0.0076	0.0031	0.0030	0.0057	0.0053	0.0006	0.0077	0.0068	0.0047	0	0.0013	0.0179	0.0042	0.0088	0.0076	0.278	0.15613	T	0.264	0.23707	T	0.846	0.46778	P	0.531	0.48577	P	0.002256	0.36929	N	0.317619	0.999998	0.58761	D	1.82	0.47800	L	1.82	0.25018	T	-2.32	0.51968	N	0.429	0.53532	-1.1207	0.02288	T	0.070	0.28478	T	10	0.007461101	0.00170	T	0.006579	0.17358	T	0.159	0.41286	.	.	0.447901950027	0.44410	0.5973885767010677	0.59669	.	.	0.695635795593	0.66515	T	0.746071	0.93005	D	-0.0649489	0.42131	T	-0.331071	0.41350	T	0.0448825108585944	0.04581	T	0.953805	0.82399	D	0.21978775	0.44518	0.20101556	0.44061	0.21978775	0.44518	0.20101556	0.44060	-12.443	0.86942	D	.	.	0.117	0.37255	B	.;.;.;.;.	.;.;.;.;.	4.729647	0.76160	26.5	0.9986754952357213	0.94547	0.97502	0.75165	D	AEFGI	0.915276	0.87984	D	0.406373100601256	0.61773	4.382947	0.429274054156304	0.63395	4.572528	0.999550702800369	0.40362	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	3.99	3.99	0.45527	6.388000	0.73122	11.737000	0.95113	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.0:1.0:0.0	14.406	0.66656	964	0.07719	Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	246.11	26	chr15	32168303	.	G	A	246.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.83;DP=729;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0501;MLEAC=2;MLEAF=0.048;MQ=26.77;MQRankSum=0.761;QD=3.67;ReadPosRankSum=2.06;SOR=0.087	GT:AD:DP:GQ:PL	0/0:30,0:30:66:0,66,990	19	0	2	0
chr15	32393517	32393517	-	TTC	exonic	GOLGA8K;GOLGA8T	.	nonframeshift insertion	GOLGA8K:NM_001282493:exon16:c.1418_1419insGAA:p.K474_E475insK,	.	.	298	1217	3	4	0	11	0.00449898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1333443264	0.0005	0.0023	0.0004	0.0005	0.0019	0.0004	0.0004	0.0014	0.0013	0.0007	0.0011	0.0002	0.0019	0.0010	0.0005	0.0003	0.0005	0.0015	3.488e-05	0.0003	2.232e-05	4.854e-05	6.628e-05	9.26e-06	4.57e-06	1.758e-05	8.87e-06	0	0	0	0	0	0	0	6.628e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	70.29	38	chr15	32393517	.	T	TTTC	70.29	.	AC=2;AF=0.048;AN=42;DP=672;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.8834;MLEAC=1;MLEAF=0.024;MQ=25.27;QD=26.46;SOR=2.303	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,974	20	1	0	0
chr15	32394147	32394147	T	C	exonic	GOLGA8K;GOLGA8T	.	nonsynonymous SNV	GOLGA8K:NM_001282493:exon15:c.A1363G:p.M455V,	.	.	503	995	21	3	0	27	0.0133862	0.0069	0.044	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	.	.	.	.	.	.	1.000	N	.	.	.	.	-1.017	T	0.048	T	0.109	0.272	5.473	-3.32	-1.410	1.015	4.048	0.033	.	.	0.00698882	0.0164	0.0077	0.0191	0	0.0140	0.0217	0.0162	0.0136	0.0013447	35	26028	rs201364836	0.0032	0.0071	0.0031	0.0034	0.0059	0.0031	0.0031	0.0050	0.0047	0.0059	0.0020	0.0010	7.269e-05	0.0034	0.0041	0.0033	0.0028	0.0045	0.0029	0.0046	0.0030	0.0029	0.0050	0.0026	0.0025	0.0041	0.0038	0.0050	0	0.0011	0.0018	0	0.0021	0	0.0028	0.0020	0.0031	.	.	.	0.184	0.29056	T	.	.	.	.	.	.	.	.	.	.	0.999973	0.18612	N	.	.	.	.	.	.	.	.	.	0.317	0.35727	-1.0173	0.24592	T	0.048	0.20553	T	5	0.007897466	0.00179	T	.	.	.	0.033	0.08068	.	.	0.119812018005	0.11559	0.39501364062276695	0.39416	1.93239836197	0.93153	.	.	.	.	.	.	-0.54465	0.00314	T	-0.547595	0.17557	T	0.0171244791083947	0.00458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11172	B	.	.	1.013339	0.13924	10.48	0.72283640021614892	0.09919	0.58944	0.30779	D	AEFI	0.193844	0.32095	N	0.0343045522413628	0.43421	2.635398	-0.349025092461371	0.26539	1.46656	3.94332910653515E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	1.66	-3.32	0.04663	1.336000	0.33455	-0.262000	0.10418	0.215000	0.18024	1.000000	0.71638	0.340000	0.24418	0.126000	0.19410	0.0:0.2654:0.3053:0.4292	4.048	0.09262	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	173.39	28	chr15	32394147	.	T	C	173.39	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.674;DP=485;ExcessHet=0.0000;FS=1.666;InbreedingCoeff=-0.0291;MLEAC=1;MLEAF=0.025;MQ=44.45;MQRankSum=-3.469e+00;QD=5.78;ReadPosRankSum=-1.584e+00;SOR=1.106	GT:AD:DP:GQ:PL	0/0:25,0:25:72:0,72,739	19	0	1	1
chr15	32394208	32394208	C	G	exonic	GOLGA8K;GOLGA8T	.	nonsynonymous SNV	GOLGA8K:NM_001282493:exon15:c.G1302C:p.E434D,	.	.	436	1057	28	1	0	30	0.0139925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	.	.	.	.	.	.	1.000	N	.	.	.	.	-1.026	T	0.034	T	0.045	-0.227	2.905	0.664	0.232	0.381	1.964	0.013	.	.	0.00958466	0.0171	0.0063	0.0093	0.0006	0.0208	0.0222	0.0161	0.0152	0.0116881	1807	154602	rs186020429	0.0012	0.0042	0.0011	0.0013	0.0019	0.0012	0.0011	0.0016	0.0015	0.0016	0.0007	0.0007	0.0001	0.0027	0.0014	0.0011	0.0014	0.0019	0.0019	0.0036	0.0019	0.0020	0.0027	0.0017	0.0017	0.0023	0.0021	0.0027	0	0.0004	0.0010	0.0003	0.0018	0	0.0020	0.0017	0.0022	.	.	.	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.028	0.00618	-1.0259	0.21788	T	0.034	0.14464	T	5	0.004268825	0.00085	T	.	.	.	0.013	0.01715	.	.	.	.	0.08551605836197455	0.08485	0.019005573398	0.01855	.	.	.	.	.	.	-0.641994	0.00081	T	-0.68133	0.06902	T	0.00542060920511947	0.00059	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.24123	B	.	.	1.554518	0.19917	14.50	0.85348933866344978	0.15837	0.02889	0.07675	N	AEFI	0.085265	0.17283	N	-0.752977063059062	0.14552	0.7258756	-0.954551780017152	0.10818	0.5473082	1.15102790662991E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	1.66	0.664	0.17060	0.783000	0.26463	0.228000	0.16155	0.176000	0.17782	0.000000	0.06391	0.000000	0.08366	0.050000	0.15192	0.3154:0.4628:0.0:0.2218	1.964	0.03186	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	374.34	27	chr15	32394208	.	C	G	374.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.243;DP=653;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=48.12;MQRankSum=-4.764e+00;QD=8.14;ReadPosRankSum=1.56;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1036	19	0	1	1
chr15	33066576	33066576	A	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.T1309C:p.S437P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.974	D	0.014	N	0.997	N	.	.	0.86	T	-0.312	T	0.279	T	0.74	2.736	15.11	5.96	2.285	2.823	11.519	0.118	0.0439174776103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.269e-06	0.0003	8.328e-06	4.195e-06	3.048e-05	2.95e-06	2.14e-06	3.16e-06	2.28e-06	3.048e-05	0	0	0	0	0	7.335e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.149	0.63918	T	0.999	0.90584	D	0.961	0.73157	D	0.013889	0.28700	N	0.367334	.	.	.	.	.	.	0.86	0.52416	T	-1.05	0.30140	N	0.667	0.67564	-0.3122	0.74643	T	0.279	0.65058	T	8	0.56316704	0.64902	D	0.043917	0.61227	D	0.118	0.32913	0.237	0.16760	0.692833615445	0.69019	.	.	0.0243119155432	0.02469	.	.	.	.	.	.	0.065645	0.60314	T	-0.143482	0.59815	T	0.97686767578125	0.71575	D	.	.	.	.	.	.	.	.	.	.	.	-11.775	0.83737	D	.	.	0.768	0.82694	P	.;.	.;.	1.889637	0.24000	16.23	0.99337903151617613	0.60051	0.70445	0.34593	D	AEFBCI	0.339556	0.43666	N	0.607978743589503	0.73679	6.005621	0.621611519535191	0.76513	6.504682	0.999997974355125	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	2.674000	0.46532	7.052000	0.57375	0.756000	0.94297	0.994000	0.38300	1.000000	0.68203	0.859000	0.40722	0.8664:0.0:0.0:0.1336	11.519	0.49792	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	2973.31	80	chr15	33066576	.	A	G	2973.31	.	AC=8;AF=0.333;AN=24;BaseQRankSum=-3.410e-01;DP=1903;ExcessHet=3.5521;FS=152.585;InbreedingCoeff=-0.4238;MLEAC=11;MLEAF=0.458;MQ=60.00;MQRankSum=0.00;QD=3.75;ReadPosRankSum=0.714;SOR=10.260	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,16:81:99:0|1:33066574_C_T:341,0,2214:33066574	4	0	8	9
chr15	33066577	33066577	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1308C:p.E436D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.986	D	0.799	P	0.001	D	.	.	.	.	0.34	T	-0.655	T	0.195	T	0.183	2.701	14.99	3.06	0.846	0.241	5.341	0.121	0.0297600126912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.862e-07	0.0001	0	1.379e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.31834	T	0.298	0.32355	T	0.859	0.61523	P	0.569	0.58136	P	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.34	0.59717	T	-1.06	0.27669	N	0.523	0.55280	-0.6555	0.62473	T	0.195	0.54913	T	8	0.3596483	0.52628	T	0.02976	0.52206	D	0.121	0.33580	0.179	0.08626	0.723881056707	0.72144	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.156676	0.27274	T	-0.46283	0.26291	T	0.960661649703979	0.65867	D	.	.	.	.	.	.	.	.	.	.	.	-8.241	0.62700	D	.	.	0.231	0.54353	B	.;.	.;.	0.926501	0.13016	9.521	0.9948329941711106	0.67014	0.72494	0.35481	D	AEFBCI	0.313711	0.41879	N	0.240855582260182	0.53189	3.48888	0.245955025105221	0.52420	3.416909	0.999871332870031	0.44625	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	3.06	0.34374	0.207000	0.17194	0.009000	0.13411	0.599000	0.40250	0.983000	0.35670	0.800000	0.26941	0.903000	0.43903	0.1331:0.5968:0.0:0.2702	5.341	0.15286	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.375	3066.26	80	chr15	33066577	.	C	G	3066.26	.	AC=9;AF=0.375;AN=24;BaseQRankSum=-6.420e-01;DP=1917;ExcessHet=4.7172;FS=160.684;InbreedingCoeff=-0.4737;MLEAC=12;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=3.55;ReadPosRankSum=0.903;SOR=10.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,16:81:99:0|1:33066574_C_T:341,0,2214:33066574	3	0	9	9
chr15	33066579	33066579	C	T	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1306A:p.E436K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.984	D	0.001	D	.	.	.	.	0.21	T	-0.301	T	0.421	T	0.739	4.442	23.7	5.96	2.832	6.805	20.422	0.219	0.0640291295364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.172	0.63918	T	0.999	0.90584	D	0.984	0.76113	D	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.21	0.61798	T	-1.7	0.49684	N	0.735	0.73826	-0.3008	0.74963	T	0.421	0.76630	T	8	0.7212701	0.73678	D	0.064029	0.69152	D	0.219	0.51417	0.231	0.15855	0.748136256137	0.74586	.	.	0.0231449100248	0.02349	.	.	.	.	.	.	0.142383	0.68551	D	-0.0332535	0.68153	D	0.952831566333771	0.63885	D	.	.	.	.	.	.	.	.	.	.	.	-12.099	0.85330	D	.	.	0.586	0.71819	P	.;.	.;.	2.594882	0.33671	19.41	0.99883603428231948	0.95892	0.93420	0.58169	D	AEFBCI	0.825608	0.74527	D	0.777670272844729	0.84690	8.359056	0.801274126872763	0.89881	10.16146	0.99999999999998	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	6.672000	0.74315	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	20.422	0.99051	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1154	559.28	59	chr15	33066579	.	C	T,G	559.28	.	AC=1,2;AF=0.038,0.077;AN=26;BaseQRankSum=-2.851e+00;DP=1869;ExcessHet=0.3300;FS=100.350;InbreedingCoeff=-0.2083;MLEAC=1,3;MLEAF=0.038,0.115;MQ=60.00;MQRankSum=0.00;QD=1.79;ReadPosRankSum=0.563;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:80,0,6:86:5:0|1:33066574_C_T:0,241,3505,5,3269,3251:33066574	10	0	1	8
chr15	33066579	33066579	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1306C:p.E436Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	1.0	D	0.993	D	0.001	D	.	.	.	.	0.2	T	-0.397	T	0.409	T	0.427	3.909	19.88	5.96	2.832	6.805	20.422	0.220	0.0465556673304	.	.	2.721e-05	0	0	0	0	4.859e-05	0	0	1.94e-05	3	154602	rs955154800	2.466e-05	2.805e-05	3.135e-05	1.79e-05	3.15e-05	1.806e-05	1.603e-05	2.287e-05	2.024e-05	0	0	0	0	1.874e-05	0	3.15e-05	0	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.003	0.68238	D	0.286	0.60972	T	1.0	0.90584	D	0.989	0.81110	D	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.2	0.61923	T	-1.07	0.39314	N	0.607	0.62442	-0.3966	0.72134	T	0.409	0.75810	T	8	0.5905696	0.66356	D	0.046556	0.62513	D	0.220	0.51569	0.204	0.11936	0.824378962961	0.82271	.	.	0.0221738766814	0.02225	.	.	.	.	.	.	-0.0740485	0.40679	T	-0.236485	0.51141	T	0.808419227600098	0.46935	D	.	.	.	.	.	.	.	.	.	.	.	-8.327	0.63277	D	.	.	0.419	0.64113	A	.;.	.;.	2.541376	0.32879	19.17	0.99614688724551159	0.75052	0.94574	0.61609	D	AEFBCI	0.820935	0.74161	D	0.762264303690397	0.83701	8.086839	0.787779339582059	0.88930	9.771612	0.99999999999998	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	6.672000	0.74315	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	20.422	0.99051	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1154	559.28	59	chr15	33066579	.	C	T,G	559.28	.	AC=1,2;AF=0.038,0.077;AN=26;BaseQRankSum=-2.851e+00;DP=1869;ExcessHet=0.3300;FS=100.350;InbreedingCoeff=-0.2083;MLEAC=1,3;MLEAF=0.038,0.115;MQ=60.00;MQRankSum=0.00;QD=1.79;ReadPosRankSum=0.563;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:80,0,6:86:5:0|1:33066574_C_T:0,241,3505,5,3269,3251:33066574	10	0	1	8
chr15	33066580	33066580	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1305C:p.K435N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	1.0	D	0.000	D	.	.	.	.	-0.38	T	0.078	D	0.453	T	0.277	2.615	14.70	4.1	0.875	-0.168	10.418	0.261	0.097882166908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	3.42e-06	0	2.755e-06	2.52e-05	2.3e-07	9e-08	.	.	0	0	0	2.52e-05	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.154	0.70582	T	1.0	0.90584	D	0.999	0.97372	D	0.000001	0.62929	D	0.096983	.	.	.	.	.	.	-0.38	0.72458	T	-2.13	0.59389	N	0.608	0.62526	0.078	0.83767	D	0.453	0.78650	T	8	0.56676614	0.65094	D	0.097882	0.76848	D	0.261	0.57352	0.305	0.27485	0.831138789675	0.82953	.	.	0.0235372491196	0.02386	.	.	.	.	.	.	-0.0593099	0.43016	T	-0.322971	0.42248	T	0.990393579006195	0.80614	D	.	.	.	.	.	.	.	.	.	.	.	-10.821	0.78667	D	.	.	0.891	0.85423	P	.;.	.;.	1.014109	0.13930	10.49	0.99542673395090209	0.70586	0.65955	0.32912	D	AEFBCI	0.401493	0.47596	N	0.357394877581215	0.59132	4.09007	0.32151679407882	0.56807	3.84457	0.999972656303353	0.50053	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	-0.266000	0.08660	-0.170000	0.11235	0.599000	0.40250	0.526000	0.27158	0.290000	0.24159	0.957000	0.51019	0.0:0.7827:0.0:0.2173	10.418	0.43521	718	0.55760	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	945.24	59	chr15	33066580	.	C	G	945.24	.	AC=4;AF=0.167;AN=24;BaseQRankSum=-2.314e+00;DP=1836;ExcessHet=0.6776;FS=128.085;InbreedingCoeff=-0.2756;MLEAC=6;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=2.44;ReadPosRankSum=0.546;SOR=8.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:80,6:86:5:0|1:33066574_C_T:0,5,3251:33066574	8	0	4	9
chr15	33066583	33066583	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1302C:p.E434D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.989	D	0.803	P	0.000	D	1.000	N	.	.	1.03	T	-0.682	T	0.170	T	0.554	2.292	13.62	4.1	0.872	0.096	10.665	0.205	0.0174432321193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.18061	T	0.252	0.29056	T	0.724	0.62824	P	0.292	0.58300	B	0.000000	0.84330	D	0.049723	.	.	.	.	.	.	1.03	0.48142	T	-0.87	0.23590	N	0.263	0.29774	-0.6821	0.61275	T	0.170	0.51052	T	8	0.18176183	0.33423	T	0.017443	0.39139	T	0.205	0.49236	0.196	0.10839	0.633120732306	0.63011	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.101551	0.36169	T	-0.383648	0.35295	T	0.987011551856995	0.77596	D	.	.	.	.	.	.	.	.	.	.	.	-7.933	0.60613	D	.	.	0.457	0.69267	A	.;.	.;.	1.631232	0.20829	14.93	0.99234608538238822	0.56342	0.62108	0.31682	D	AEFBCI	0.207444	0.33361	N	0.193011064254835	0.50863	3.272384	0.226642513300989	0.51332	3.316546	0.999944989826091	0.47345	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	0.147000	0.16021	1.800000	0.28874	0.599000	0.40250	0.988000	0.36536	1.000000	0.68203	0.964000	0.52637	0.0:0.7464:0.0:0.2536	10.665	0.44923	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1538	573.81	76	chr15	33066583	.	C	G,T	573.81	.	AC=2,2;AF=0.077,0.077;AN=26;BaseQRankSum=-1.984e+00;DP=1824;ExcessHet=0.6776;FS=218.128;InbreedingCoeff=-0.2205;MLEAC=2,3;MLEAF=0.077,0.115;MQ=60.00;MQRankSum=0.00;QD=1.65;ReadPosRankSum=0.751;SOR=7.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,6,0:84:1:0|1:33066574_C_T:1,0,3165,236,3183,3419:33066574	9	0	2	8
chr15	33088938	33088938	T	C	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001277313:exon5:c.A1904G:p.N635S,	.	.	430	1064	27	1	0	29	0.0134446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00579073	0.0149	0	0	0	0	0.0017	0.0227	0.0229	0.0016559	256	154602	rs181008299	0.0026	0.0024	0.0020	0.0032	0.0218	0.0025	0.0025	0.0209	0.0206	0.0001	0.0011	0.0002	2.798e-05	0.0148	0.0067	0.0010	0.0027	0.0218	0.0023	0.0023	0.0016	0.0030	0.0203	0.0021	0.0020	0.0170	0.0158	9.627e-05	0	0.0015	0	0.0004	0.0115	0	0.0014	0.0009	0.0203	0.882	0.02532	T	0.512	0.10750	T	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.22	0.03977	N	1.11	0.38883	T	0.11	0.05706	N	0.026	0.00527	.	.	.	.	.	.	.	0.0014220476	0.00015	T	.	.	.	.	.	.	.	.	.	0.029195515721522472	0.02868	.	.	0.276002764702	0.06942	T	0.04835	0.27991	T	-0.708137	0.00033	T	-0.77238	0.02690	T	.	.	.	.	.	.	0.02616488	0.01640	0.034886222	0.02636	0.02616488	0.01639	0.034886222	0.02635	-1.13	0.01155	T	.	.	0.054	0.00309	B	.;.	.;.	-0.517751	0.01811	0.142	0.52692756404091912	0.04796	0.00826	0.03330	N	AEFBI	0.032923	0.03812	N	.	.	.	.	.	.	0.999999999668005	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.17	-10.3	0.00281	-1.774000	0.01882	-3.680000	0.02610	-0.718000	0.03832	0.010000	0.18352	0.000000	0.08366	0.812000	0.38265	0.1073:0.4907:0.2352:0.1668	5.498	0.16102	860	0.33753	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1785.98	35	chr15	33088938	.	T	C	1785.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.094e+00;DP=883;ExcessHet=0.0000;FS=1.385;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.53;ReadPosRankSum=-1.232e+00;SOR=0.576	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1108	20	0	1	0
chr15	33652743	33652743	G	A	exonic	RYR3	.	nonsynonymous SNV	RYR3:NM_001036:exon32:c.G4168A:p.V1390I	.	.	0	1521	1	0	0	1	0.000328623	.	.	996186	Epileptic_encephalopathy	Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.984	D	0.959	D	0.000	N	1.000	D	1.885	L	0.19	T	-0.584	T	0.238	T	0.197	3.498	17.88	3.63	1.568	6.583	12.310	0.164	0.00809884506342	8.1e-05	0.000599042	4.154e-05	0.0003	0.0002	0	0	0	0	0	5.17e-05	8	154602	rs138445751	1.642e-05	1.642e-05	2.587e-05	6.878e-06	0.0005	1.111e-05	9.34e-06	0.0003	0.0002	0.0005	4.475e-05	0	0	0	0	0	9.94e-05	0	4.596e-05	4.593e-05	6.424e-05	2.686e-05	0.0002	2.108e-05	1.526e-05	7.873e-05	5.576e-05	0.0002	0	0	0	0	0	0	0	0	0	0.093	0.31532	T	.	.	.	0.984	0.60733	D	0.959	0.70163	D	0.000253	0.46924	N	0.141477	0.999985	0.54805	D	2.56	0.74772	M	0.19	0.60236	T	-0.75	0.21003	N	0.373	0.41459	-0.5842	0.65451	T	0.238	0.60595	T	10	0.12814733	0.24376	T	0.008099	0.21470	T	0.164	0.42212	.	.	0.530035883213	0.52651	0.512783857857806	0.51200	0.147539012077	0.16648	0.551260590553	0.46035	T	0.467367	0.80173	T	-0.297404	0.08907	T	-0.385541	0.35073	T	0.125312803812559	0.14942	T	0.941006	0.77964	D	0.077676654	0.17644	0.110175245	0.26562	0.077676654	0.17644	0.110175245	0.26562	-5.833	0.44861	T	.	.	0.083	0.09433	B	.;.;.;.;.	.;.;.;.;.	3.807957	0.54910	23.5	0.99615889672216018	0.75112	0.97388	0.74432	D	AEFBI	0.775055	0.70858	D	0.34037576737301	0.58234	3.994436	0.398519378167827	0.61473	4.347914	0.838485087070772	0.24822	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.52	3.63	0.40741	6.895000	0.75479	8.620000	0.77807	0.668000	0.69082	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1381:0.0:0.8619:0.0	12.310	0.54244	959	0.08690	SPRY domain|B30.2/SPRY domain|SPRY domain|Ryanodine receptor, SPRY domain 3;.;SPRY domain|B30.2/SPRY domain|SPRY domain|Ryanodine receptor, SPRY domain 3;SPRY domain|B30.2/SPRY domain|SPRY domain|Ryanodine receptor, SPRY domain 3;SPRY domain|B30.2/SPRY domain|SPRY domain|Ryanodine receptor, SPRY domain 3	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1267.98	115	chr15	33652743	.	G	A	1267.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.51;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.03;ReadPosRankSum=-7.190e-01;SOR=0.734	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1147	20	0	1	0
chr15	33756345	33756345	G	A	exonic	RYR3	.	nonsynonymous SNV	RYR3:NM_001036:exon59:c.G8555A:p.R2852H	.	.	1	1520	1	0	0	1	0.000328839	.	.	464895	Epileptic_encephalopathy|not_provided|RYR3-related_disorder	Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.000	N	0.968	N	-1.445	N	-3.96	D	-0.502	T	0.433	T	0.266	1.051	9.293	5.35	1.158	6.785	11.366	0.338	.	0.0034	0.00179712	0.0020	0.0169	0.0010	0.0012	0	0.0002	0.0031	0.0001	0.0006339	98	154602	rs150799181	0.0003	0.0003	0.0003	0.0002	0.0081	0.0002	0.0002	0.0073	0.0070	0.0081	0.0003	0	5.225e-05	0	0.0002	3.292e-05	0.0005	0.0002	0.0024	0.0024	0.0025	0.0023	0.0084	0.0022	0.0021	0.0077	0.0074	0.0084	0	0.0006	0	0	0	0	5.881e-05	0.0009	0.0002	1.0	0.00964	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.84330	N	0.000000	0.967775	0.25832	N	-2.005	0.00192	N	-3.96	0.96208	D	5.78	0.00011	N	0.257	0.32701	-0.5024	0.68564	T	0.433	0.77439	T	10	0.0065937936	0.00149	T	.	.	.	0.338	0.66010	.	.	0.161926535498	0.15789	0.13862022442214192	0.13785	0.225144669381	0.25054	0.68936753273	0.65615	T	0.243154	0.61203	T	-0.264329	0.12398	T	-0.145644	0.59628	T	0.0229384889620184	0.01017	T	0.768323	0.39714	T	0.065379106	0.13967	0.1080648	0.26025	0.065379106	0.13967	0.1080648	0.26024	6.405	0.00001	T	.	.	0.057	0.00593	B	.;.;.;.;.	.;.;.;.;.	3.421726	0.47512	22.5	0.26238266882482486	0.01247	0.03461	0.08612	N	AEFBI	0.031260	0.03302	N	-0.660460417430439	0.17157	0.8804189	-0.340286461632499	0.26811	1.48339	0.996160233562345	0.34566	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.35	5.35	0.76297	7.163000	0.77095	7.018000	0.57256	-0.040000	0.17491	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.9286:0.0:0.0714:0.0	11.366	0.48913	916	0.20744	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	729.98	33	chr15	33756345	.	G	A	729.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.663;DP=759;ExcessHet=0.0000;FS=5.105;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-2.610e-01;SOR=0.622	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1238	20	0	1	0
chr15	33788355	33788355	G	T	exonic	RYR3	.	nonsynonymous SNV	RYR3:NM_001036:exon67:c.G9727T:p.D3243Y	.	.	0	1519	2	1	0	4	0.00131492	.	.	936884	Epileptic_encephalopathy	Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	1.845	L	-0.15	T	-0.177	T	0.402	T	0.941	3.308	17.12	4.55	2.517	9.601	17.854	0.538	0.0559516351922	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1294722820	1.231e-05	1.231e-05	1.634e-05	8.252e-06	0.0009	7.7e-06	6.35e-06	0.0003	0.0002	0	0	0	0	0	0.0009	4.497e-06	0.0001	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	6.546e-05	5.24e-06	2.45e-06	.	.	2.415e-05	0	6.546e-05	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	.	.	.	1.0	0.90584	D	0.99	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-0.15	0.65192	T	-7.57	0.95246	D	0.913	0.91505	-0.1767	0.78263	T	0.402	0.75331	T	10	0.8370371	0.82859	D	0.055952	0.66426	D	0.538	0.80664	0.427	0.47350	0.859772695071	0.85841	0.5704975196576697	0.56977	0.803577787223	0.66362	0.664768397808	0.62091	T	0.789219	0.94508	D	0.343305	0.86057	D	0.255358	0.85874	D	0.998374462127686	0.93972	D	0.975102	0.91204	D	0.8858007	0.90150	0.82154906	0.89638	0.8858007	0.90151	0.82154906	0.89639	-13.67	0.91935	D	.	.	0.523	0.65634	A	.;.;.;.;.	.;.;.;.;.	4.249334	0.64489	24.7	0.98881035457803756	0.47823	0.99132	0.91696	D	AEFBI	0.923645	0.90045	D	0.698921662618033	0.79559	7.103835	0.625893201371051	0.76824	6.563124	0.999999995457293	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.55	4.55	0.55429	10.003000	0.99689	9.758000	0.81499	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.424000	0.27317	0.0:0.0:1.0:0.0	17.854	0.88668	930	0.16408	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1993.98	37	chr15	33788355	.	G	T	1993.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.224e+00;DP=893;ExcessHet=0.0000;FS=7.655;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=-9.250e-01;SOR=0.623	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr15	34038924	34038924	-	CCGCCGCCGCCT	exonic	AVEN	.	nonframeshift insertion	AVEN:NM_020371:exon1:c.122_123insAGGCGGCGGCGG:p.G45_D46insGGGG,	.	.	593	759	112	48	10	218	0.12051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	756.33	5	chr15	34038912	.	CCCGCCGCCGCCT	C,CCCGCCGCCGCCTCCGCCGCCGCCT	756.33	.	AC=4,1;AF=0.100,0.025;AN=40;BaseQRankSum=0.319;DP=163;ExcessHet=0.0454;FS=2.917;InbreedingCoeff=0.2461;MLEAC=4,1;MLEAF=0.100,0.025;MQ=60.00;MQRankSum=0.00;QD=21.61;ReadPosRankSum=-4.240e-01;SOR=1.230	GT:AD:DP:GQ:PL	./.:3,0,0:3:0:0,0,0,0,0,0	16	1	2	1
chr15	34152845	34152845	G	A	exonic	KATNBL1	.	nonsynonymous SNV	KATNBL1:NM_024713:exon4:c.C383T:p.S128F,	.	.	442	1079	1	0	0	1	0.000463177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.265	B	0.271	B	0.000	D	1.000	D	0.895	L	.	.	-0.711	T	0.223	T	0.293	3.559	18.15	5.47	2.572	7.918	19.325	0.266	0.0046465524112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.021	0.66756	D	0.265	0.31634	B	0.271	0.39904	B	0.000177	0.48594	D	0.217778	0.999985	0.54805	D	2.075	0.57047	M	.	.	.	-0.81	0.69714	N	0.408	0.44857	-0.7113	0.59888	T	0.223	0.58627	T	9	0.2953087	0.47099	T	0.004647	0.11534	T	0.266	0.57999	0.291	0.25241	0.283761946502	0.27984	0.4217510404636234	0.42092	0.297920051926	0.32171	0.504614889622	0.39470	T	0.036903	0.40587	T	0.0110764	0.53172	T	-0.221866	0.52557	T	0.946054637432098	0.62390	D	0.90061	0.65471	D	0.19317473	0.41017	0.20456618	0.44586	0.19317473	0.41017	0.20456618	0.44585	-5.771	0.44321	T	.	.	0.118	0.29968	B	.;.;.;.;.;.	.;.;.;.;.;.	4.381673	0.67552	25.1	0.99700000715295589	0.80591	0.98537	0.83843	D	AEFGBI	0.893637	0.83179	D	0.286627128841953	0.55468	3.711045	0.444757048240444	0.64381	4.691954	0.999999999951493	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.47	5.47	0.80345	8.386000	0.90052	9.829000	0.81850	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.325	0.94246	659	0.61982	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1593.98	34	chr15	34152845	.	G	A	1593.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.857;DP=812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=-1.113e+00;SOR=0.750	GT:AD:DP:GQ:PL	0/1:62,64:126:99:1608,0,1481	20	0	1	0
chr15	34355938	34355938	A	G	exonic	NUTM1	.	nonsynonymous SNV	NUTM1:NM_001284293:exon7:c.A1900G:p.T634A	.	.	414	1105	3	0	0	3	0.00135563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.007	B	0.007	B	0.819	N	1.000	N	1.7	L	3.1	T	-0.977	T	0.023	T	0.035	1.760	11.84	1.87	0.039	0.413	6.194	0.020	0.00331136080883	.	.	0.0001	0	0	0	0	1.568e-05	0.0011	0.0008	0.0001035	16	154602	rs769859248	9.03e-05	9.029e-05	5.99e-05	0.0001	0.0010	7.756e-05	7.3e-05	0.0008	0.0008	0	2.236e-05	0	0	0	0.0005	3.597e-05	4.967e-05	0.0010	1.97e-05	1.969e-05	0	4.029e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	0	0	0.0006	0.145	0.25768	T	0.295	0.20811	T	0.004	0.12183	B	0.003	0.08700	B	0.818983	0.09193	N	0.913228	1	0.08975	N	1.795	0.47270	L	3.1	0.08283	T	-0.93	0.24898	N	0.034	0.00942	-0.9769	0.35705	T	0.023	0.09878	T	10	0.023970276	0.00644	T	0.003311	0.07359	T	0.020	0.03691	.	.	0.18274738541	0.17906	0.0531112443718815	0.05253	0.0718842067484	0.08051	0.290602624416	0.09010	T	0.003309	0.02718	T	-0.640025	0.00083	T	-0.770116	0.02764	T	0.0181745439767838	0.00538	T	0.50295	0.15803	T	0.049234256	0.08710	0.041759472	0.04819	0.049234256	0.08709	0.041759472	0.04819	-2.554	0.06428	T	.	.	0.094	0.17189	B	.;.;.;.	.;.;.;.	0.150753	0.05428	1.903	0.89849315008662678	0.19155	0.05423	0.11295	N	AEFDBI	0.054514	0.09919	N	-0.804790199072063	0.13187	0.6479212	-0.839311658603242	0.13544	0.7032268	0.922077791824634	0.26696	0.651	0.46895	0	0.547309	0.14657	0	0.65145	0.50148	0	0.528226	0.09195	0	.	.	5.63	1.87	0.24559	0.419000	0.20967	1.262000	0.25237	0.756000	0.94297	0.000000	0.06391	0.083000	0.22416	0.017000	0.10941	0.5225:0.3908:0.0867:0.0	6.194	0.19752	675	0.60470	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1598.98	36	chr15	34355938	.	A	G	1598.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.062;DP=829;ExcessHet=0.0000;FS=1.561;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.81;ReadPosRankSum=1.30;SOR=0.689	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr15	34365647	34365647	C	T	exonic	LPCAT4	.	nonsynonymous SNV	LPCAT4:NM_153613:exon2:c.G169A:p.V57I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.84	T	0.002	B	0.001	B	0.000	N	0.818	N	0.55	N	-1.46	T	-0.903	T	0.227	T	0.134	1.727	11.73	3.9	0.798	0.229	6.284	0.187	0.0113445433513	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1016374423	4.104e-06	4.104e-06	5.445e-06	2.75e-06	0.0002	1.48e-06	9.7e-07	3e-07	1.1e-07	2.987e-05	0	0	0	0	0.0002	1.799e-06	1.656e-05	1.159e-05	1.314e-05	1.313e-05	1.285e-05	1.346e-05	6.546e-05	2.18e-06	8.2e-07	.	.	2.414e-05	0	6.546e-05	0	0	0	0	0	0	0	0.691	0.04289	T	0.843	0.03579	T	0.002	0.09854	B	0.001	0.04355	B	0.000042	0.53742	N	0.159570	0.818057	0.28918	N	0.145	0.08828	N	-1.46	0.80983	T	0.07	0.06138	N	0.129	0.12341	-0.9026	0.47717	T	0.227	0.59233	T	10	0.09083274	0.15857	T	0.011345	0.28865	T	0.187	0.46274	0.528	0.63412	0.082315109003	0.07666	0.6635722785000028	0.66294	0.546067844813	0.51612	0.551275193691	0.46038	T	0.02855	0.20658	T	-0.141491	0.29652	T	-0.441019	0.28694	T	0.388317316770554	0.28501	T	0.662834	0.27173	T	0.08683926	0.20200	0.04656387	0.06516	0.08683926	0.20199	0.04656387	0.06516	-2.137	0.03746	T	.	.	0.085	0.10014	B	.	.	2.613834	0.33953	19.49	0.94217503119624457	0.24463	0.29620	0.23870	N	AEFDBHCIJ	0.063330	0.12232	N	-0.636367722072537	0.17860	0.9226034	-0.462547464686238	0.23194	1.263604	0.999992921485446	0.74766	0.789315	0.99827	0	0.52208	0.09955	0	0.768056	0.98339	0	0.603991	0.37454	0	.	.	5.76	3.9	0.44240	0.355000	0.19902	3.234000	0.36926	0.599000	0.40250	0.588000	0.27650	0.999000	0.35428	0.999000	0.91618	0.1489:0.6963:0.0:0.1548	6.284	0.20231	681	0.59854	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1323.98	37	chr15	34365647	.	C	T	1323.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.91;DP=815;ExcessHet=0.0000;FS=2.449;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=0.198;SOR=0.486	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1226	20	0	1	0
chr15	34367051	34367051	C	G	exonic	LPCAT4	.	nonsynonymous SNV	LPCAT4:NM_153613:exon1:c.G50C:p.G17A,	.	.	451	1063	7	1	0	9	0.00421546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.598	P	0.135	B	0.668	N	1.000	N	-1.04	N	-1.25	T	-0.929	T	0.115	T	0.298	-0.725	0.893	3.61	2.052	0.705	7.540	0.210	0.399619492989	.	0.000199681	0.0007	0	0.0013	0.0005	0	0.0012	0.0056	0.0001	0.0001294	20	154602	rs199696158	0.0007	0.0006	0.0007	0.0007	0.0070	0.0007	0.0006	0.0049	0.0042	0.0005	0.0004	0.0055	0.0002	0	0.0070	0.0006	0.0014	0.0001	0.0005	0.0005	0.0004	0.0006	0.0018	0.0004	0.0004	0.0012	0.0011	2.409e-05	0	0.0018	0.0049	0	0	0.0068	0.0004	0.0005	0	0.227	0.18498	T	1.0	0.01155	T	0.043	0.21573	B	0.027	0.21085	B	0.668467	0.10363	N	0.837370	1	0.08975	N	-0.695	0.01866	N	-1.25	0.79072	T	0.54	0.02764	N	0.161	0.16864	-0.9287	0.44328	T	0.115	0.40717	T	10	0.009805411	0.00220	T	0.399619	0.93368	D	0.210	0.50028	.	.	0.332276917938	0.32835	0.6746182455795737	0.67399	3.35281643212E-4	0.00031	0.845378637314	0.88915	D	0.012424	0.10924	T	-0.196729	0.21276	T	-0.194423	0.55173	T	0.0542396334732095	0.06230	T	0.516848	0.16688	T	0.068275765	0.14859	0.13942178	0.33265	0.068275765	0.14859	0.13942178	0.33264	-3.41	0.15191	T	.	.	0.074	0.04975	B	.	.	1.478360	0.19034	14.06	0.59726418079904886	0.06292	0.16734	0.19524	N	AEFDBHCI	0.060712	0.11557	N	-0.889632622103055	0.11088	0.5332372	-0.777692557039351	0.15042	0.7891394	0.999999999991505	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.492483	0.08430	1	.	.	4.54	3.61	0.40494	1.001000	0.29384	1.596000	0.27557	0.476000	0.22017	0.296000	0.25288	0.885000	0.27754	0.442000	0.27716	0.0:0.8834:0.0:0.1166	7.540	0.26902	682	0.59757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1699.11	35	chr15	34367051	.	C	G	1699.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.82;DP=848;ExcessHet=0.1072;FS=0.600;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.99;ReadPosRankSum=0.182;SOR=0.745	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,101,1371	19	0	2	0
chr15	34382015	34382015	G	C	exonic	GOLGA8A	.	nonsynonymous SNV	GOLGA8A:NM_181077:exon14:c.C1406G:p.P469R	.	.	220	5	0	1	0	2	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.971	D	0.636	P	.	.	0.995	N	0.67	N	3.53	T	-0.564	T	0.423	T	0.106	-0.899	0.441	0.496	0.528	2.061	3.534	0.062	0.00526627203441	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1457109260	0.0080	0.0048	0.0056	0.0102	0.0370	0.0078	0.0077	0.0354	0.0348	0.0004	0.0062	0.0042	0.0002	0.0003	0.0300	0.0047	0.0062	0.0370	0.0079	0.0027	0.0078	0.0079	0.0625	0.0061	0.0055	0.0423	0.0357	0.0022	0	0.0012	0.0079	0	0	0	0.0099	0	0.0625	0.165	0.23271	T	0.351	0.22895	T	0.971	0.57185	D	0.636	0.51948	P	.	.	.	.	0.995459	0.23286	N	2.485	0.72352	M	3.53	0.04852	T	-2.12	0.48184	N	0.148	0.15046	-0.5643	0.66239	T	0.423	0.76750	T	9	0.014103413	0.00297	T	0.005266	0.13433	T	0.062	0.17934	0.179	0.08626	0.043077524339	0.03247	0.145586260892303	0.14481	.	.	0.574752986431	0.49347	T	0.006938	0.06364	T	-0.620708	0.00109	T	-0.646795	0.09180	T	0.0253007171620949	0.01313	T	0.508249	0.16331	T	0.03884983	0.05253	0.063314915	0.12524	0.03884983	0.05253	0.063314915	0.12523	-4.156	0.26112	T	.	.	0.075	0.06990	B	.;.	.;.	0.065624	0.04751	1.377	0.55054122882908985	0.05263	0.23568	0.22118	N	AEFGI	0.181942	0.30926	N	-0.692743474100034	0.16227	0.8248883	-0.819872761636745	0.14015	0.7300778	2.77314323413756E-4	0.06300	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	0.496	0.496	0.16103	2.317000	0.43429	0.433000	0.18345	-1.102000	0.01507	1.000000	0.71638	0.000000	0.08366	0.001000	0.02609	0.0:1.0E-4:0.5563:0.4436	3.534	0.07342	677	0.60274	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	90.88	5	chr15	34382015	.	G	C	90.88	.	AC=2;AF=0.250;AN=8;DP=5;ExcessHet=0.0000;FS=0.000;MLEAC=4;MLEAF=0.500;MQ=27.00;QD=31.52;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	./.	3	1	0	17
chr15	34386683	34386683	G	C	exonic	GOLGA8A	.	nonsynonymous SNV	GOLGA8A:NM_181077:exon3:c.C227G:p.A76G	.	.	433	1071	18	0	0	18	0.00833333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.82	P	0.547	P	.	.	1.000	D	0.895	L	-1.6	D	-0.559	T	0.385	T	0.239	0.368	5.995	-0.758	-0.707	0.636	.	0.284	0.0276511903843	0.0025	0.00119808	0.0050	0.0002	0.0061	0	0.0005	0.0073	0.0083	0.0014	0.0033182	513	154602	rs147015251	0.0031	0.0031	0.0031	0.0031	0.0043	0.0030	0.0030	0.0034	0.0034	0.0005	0.0035	0.0015	0	0.0010	0.0043	0.0035	0.0035	0.0008	0.0023	0.0023	0.0026	0.0021	0.0036	0.0021	0.0020	0.0033	0.0031	0.0004	0	0.0036	0.0009	0	0.0004	0	0.0036	0.0042	0.0007	0.191	0.21066	T	0.001	0.83351	D	0.82	0.45712	P	0.547	0.49095	P	.	.	.	.	0.84846	0.81001	D	0.975	0.24501	L	-1.6	0.82165	D	-2.02	0.46503	N	0.187	0.20395	-0.5592	0.66434	T	0.385	0.74061	T	8	0.0067261457	0.00153	T	0.027651	0.50434	D	0.284	0.60219	.	.	0.0675242888579	0.06100	0.055086836975987694	0.05449	.	.	0.517082571983	0.41215	T	0.044783	0.26921	T	-0.0511765	0.44268	T	-0.311288	0.43520	T	0.0369417013381279	0.03145	T	0.731927	0.34732	T	0.0720071	0.15984	0.10224714	0.24501	0.0720071	0.15984	0.10224714	0.24501	-3.751	0.29174	T	.	.	0.152	0.34449	B	.;.	.;.	1.141957	0.15295	11.74	0.73675039743892579	0.10414	0.12394	0.17242	N	AEFGI	0.083212	0.16856	N	-0.878016777294063	0.11367	0.5481656	-1.07448622400461	0.08204	0.4023935	7.44786149421456E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	0.379	-0.758	0.10492	0.788000	0.26533	1.777000	0.28684	-0.865000	0.02600	1.000000	0.71638	0.187000	0.23467	0.001000	0.02609	.	.	.	679	0.60090	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	166.98	34	chr15	34386683	.	G	C	166.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.670;DP=761;ExcessHet=0.0000;FS=3.118;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=35.55;MQRankSum=-2.021e+00;QD=3.48;ReadPosRankSum=0.405;SOR=1.392	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1075	20	0	1	0
chr15	34857006	34857006	G	C	exonic	AQR	.	nonsynonymous SNV	AQR:NM_014691:exon35:c.C4244G:p.A1415G,	.	.	435	1086	1	0	0	1	0.000460193	.	.	2248829	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.0	B	0.972	N	1.000	N	0	N	.	.	-1.016	T	0.037	T	0.053	1.280	10.18	-1.87	-0.681	-0.070	4.801	0.021	0.0100092665868	0.0002	.	4.141e-05	0	0	0	0	5.994e-05	0	6.056e-05	3.23e-05	5	154602	rs368732448	1.163e-05	1.163e-05	9.529e-06	1.375e-05	2.319e-05	7.08e-06	5.79e-06	7.31e-06	5.72e-06	0	0	0	0	0	0	1.259e-05	1.656e-05	2.319e-05	6.575e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.26	0.16574	T	0.398	0.15109	T	0.0	0.02946	B	0.0	0.01387	B	0.971771	0.08153	N	0.986918	1	0.08975	N	0.805	0.20218	L	-3.32	0.93882	D	-0.96	0.25551	N	0.063	0.03502	-1.0163	0.24916	T	0.037	0.16160	T	9	0.03820154	0.02223	T	0.010009	0.26035	T	.	.	.	.	0.209943299407	0.20609	0.11733458433082673	0.11661	0.0603955230583	0.06713	0.242127358913	0.02985	T	0.071625	0.34254	T	-0.245714	0.14628	T	-0.404824	0.32825	T	0.0173034518957138	0.00470	T	0.564843	0.19943	T	0.026891768	0.01805	0.033514872	0.02260	0.026891768	0.01805	0.033514872	0.02260	-4.116	0.25525	T	.	.	0.076	0.05800	B	.	.	0.337406	0.07112	3.687	0.79810115310552909	0.12911	0.02864	0.07632	N	AEFDBI	0.037528	0.05175	N	-1.47031751915984	0.02062	0.09065552	-1.46635531455523	0.02625	0.1210741	0.992965061173358	0.33034	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.2	-1.87	0.07317	-0.167000	0.09928	0.442000	0.18435	-0.109000	0.15193	0.004000	0.16614	0.001000	0.17328	0.241000	0.23027	0.1427:0.2905:0.4666:0.1002	4.801	0.12663	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1402.98	62	chr15	34857006	.	G	C	1402.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.852e+00;DP=1056;ExcessHet=0.0000;FS=0.758;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.75;ReadPosRankSum=-8.880e-01;SOR=0.826	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	20	0	1	0
chr15	34860118	34860118	T	C	exonic	AQR	.	nonsynonymous SNV	AQR:NM_014691:exon34:c.A4067G:p.K1356R,	.	.	439	1078	5	0	0	5	0.00231374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.029	B	0.013	B	0.000	D	0.997	D	2.045	M	.	.	-0.683	T	0.277	T	0.226	3.294	17.07	5.77	2.227	7.768	16.149	0.073	0.0173284558765	.	.	4.174e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs758025675	1.16e-05	1.642e-05	4.299e-06	1.908e-05	0.0004	6.87e-06	5.56e-06	0.0001	9.387e-05	0	0	0	0	0	0.0004	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.301	0.14449	T	0.255	0.23365	T	0.029	0.19866	B	0.013	0.16460	B	0.000060	0.53742	D	0.194076	0.996649	0.43328	D	1.385	0.34509	L	-1.56	0.81815	D	-0.72	0.20358	N	0.404	0.44474	-0.6827	0.61248	T	0.277	0.64865	T	9	0.1905306	0.34700	T	0.017328	0.38985	T	.	.	0.382	0.39970	0.584753554331	0.58148	0.2697841910892979	0.26891	0.0521985134838	0.05745	0.572510719299	0.49033	T	0.084525	0.37297	T	-0.199026	0.20944	T	-0.233521	0.51430	T	0.282987662664853	0.24297	T	0.855414	0.54290	D	0.15358002	0.34804	0.10204855	0.24449	0.15358002	0.34804	0.10204855	0.24448	-2.516	0.05891	T	.	.	0.079	0.07412	B	.	.	3.333885	0.45906	22.2	0.99635603458720357	0.76326	0.99427	0.95892	D	AEBI	0.886172	0.81732	D	0.191455208526861	0.50790	3.265613	0.359491119995466	0.59082	4.083089	0.999999999856538	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.77	5.77	0.91077	7.748000	0.83977	7.830000	0.70079	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.149	0.81412	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1229.98	34	chr15	34860118	.	T	C	1229.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.360e-01;DP=802;ExcessHet=0.0000;FS=1.548;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=-2.060e+00;SOR=0.931	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1162	20	0	1	0
chr15	34982482	34982482	C	G	exonic	ZNF770	.	nonsynonymous SNV	ZNF770:NM_014106:exon3:c.G953C:p.R318T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.22	B	0.058	B	0.427	U	0.992	N	0.805	L	3.03	T	-0.998	T	0.017	T	0.167	0.831	8.351	2.32	0.356	0.023	9.795	0.067	0.00899333996319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.41915	D	0.157	0.31730	T	0.22	0.30288	B	0.058	0.26451	B	0.426622	0.12802	U	0.716824	0.991737	0.23991	N	1.63	0.41750	L	3.03	0.08898	T	-1.43	0.35194	N	0.406	0.44666	-0.9976	0.30590	T	0.017	0.07140	T	10	0.14980197	0.28345	T	0.008993	0.23678	T	0.067	0.19503	0.636	0.77251	0.043077524339	0.03247	0.19788553753015892	0.19705	0.25774288697	0.28330	0.315893530846	0.12799	T	0.057204	0.30501	T	-0.247225	0.14441	T	-0.592898	0.13417	T	0.0599450146263638	0.07160	T	0.70183	0.31167	T	0.046721432	0.07867	0.07154798	0.15333	0.046721432	0.07867	0.07154798	0.15333	-2.976	0.09925	T	.	.	0.179	0.38959	B	.	.	1.426500	0.18442	13.74	0.89555430875659714	0.18897	0.72071	0.35291	D	AEFBCI	0.189789	0.31703	N	-0.409428258836853	0.25137	1.362385	-0.327448469276891	0.27215	1.508615	0.993055535622649	0.33067	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.17	2.32	0.27895	0.114000	0.15353	0.341000	0.17381	0.599000	0.40250	0.141000	0.23520	0.988000	0.31051	0.942000	0.48361	0.0:0.6588:0.0:0.3412	9.795	0.39896	934	0.15400	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1457.98	143	chr15	34982482	.	C	G	1457.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.584e+00;DP=938;ExcessHet=0.0000;FS=4.058;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.20;ReadPosRankSum=0.190;SOR=0.410	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1620	20	0	1	0
chr15	35538431	35538431	G	A	exonic	DPH6	.	nonsynonymous SNV	DPH6:NM_001141972:exon3:c.C155T:p.T52I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.999	D	0.987	D	0.000	D	1.000	D	2.615	M	1.48	T	-0.483	T	0.312	T	0.869	4.650	25.5	5.8	2.761	7.814	20.064	0.565	0.0361869708531	.	.	1.671e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs769995089	8.354e-06	1.026e-05	1.38e-06	1.545e-05	0.0001	4.46e-06	3.52e-06	8.218e-05	6.41e-05	0	0	0	0	0	0	0	0	0.0001	6.574e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.91255	D	0.001	0.83351	D	0.997	0.70673	D	0.973	0.72923	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.63	0.76995	M	1.48	0.42502	T	-5.53	0.86073	D	0.932	0.93723	-0.4831	0.69256	T	0.312	0.68264	T	10	0.8456366	0.83728	D	0.036187	0.56830	D	0.565	0.82232	0.788	0.91068	0.640196300337	0.63723	0.8130546266916304	0.81261	0.670847029392	0.59432	0.78668576479	0.79938	T	0.36733	0.75482	T	0.075068	0.61460	D	0.106722	0.77354	D	0.793763909271898	0.45937	D	0.993059	0.97960	D	0.9173158	0.92987	0.9150435	0.96047	0.9173158	0.92988	0.9150435	0.96048	-11.143	0.80436	D	.	.	0.966	0.88789	P	.;.;.	.;.;.	5.275310	0.88578	29.6	0.99917877893034457	0.98518	0.98020	0.78929	D	AEFBI	0.840473	0.75776	D	0.912457775146405	0.92355	11.37673	0.890781793228404	0.95157	13.36347	0.999999999750801	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.8	5.8	0.92081	7.940000	0.87153	11.892000	0.99120	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.064	0.97698	844	0.36711	Diphthamide synthase domain|Diphthamide synthase domain|Diphthamide synthase domain;Diphthamide synthase domain|Diphthamide synthase domain|Diphthamide synthase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	942.98	33	chr15	35538431	.	G	A	942.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.180e+00;DP=759;ExcessHet=0.0000;FS=5.221;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.46;ReadPosRankSum=-8.800e-01;SOR=1.633	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1059	20	0	1	0
chr15	36808331	36808331	C	G	exonic	CDIN1	.	nonsynonymous SNV	CDIN1:NM_001321758:exon9:c.C613G:p.P205A	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.997	D	0.942	D	0.000	D	1.000	D	2.005	M	0.78	T	-0.576	T	0.288	T	0.828	2.862	15.53	5.41	2.816	7.268	19.394	0.343	0.0172350120085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.49613	D	0.115	0.49663	T	0.997	0.70673	D	0.942	0.67772	D	0.000001	0.84330	D	0.057253	1	0.81001	D	2.41	0.69639	M	0.78	0.49358	T	-5.33	0.85692	D	0.692	0.80572	-0.5755	0.65795	T	0.288	0.65997	T	10	0.76050305	0.76308	D	0.017235	0.38857	T	0.343	0.66488	0.515	0.61459	0.415438038341	0.41156	0.5835014524172338	0.58279	0.46950609281	0.46258	.	.	.	0.486584	0.86639	T	0.231328	0.76846	D	0.0945096	0.76545	D	0.993881821632385	0.84878	D	0.920908	0.82399	D	0.3056992	0.53411	0.39580217	0.64238	0.3056992	0.53411	0.39580217	0.64238	-6.943	0.56883	T	.	.	0.363	0.58756	A	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.577910	0.72295	25.8	0.97148336112847877	0.32573	0.97273	0.73721	D	AEFDBCI	0.855167	0.77225	D	0.788648153549604	0.85390	8.561728	0.783014452676314	0.88589	9.638884	1.0	0.98316	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.695668	0.68540	0	.	.	5.41	5.41	0.78313	7.386000	0.79041	7.723000	0.67399	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	19.394	0.94589	941	0.13089	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	882.98	33	chr15	36808331	.	C	G	882.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.730e-01;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.92;ReadPosRankSum=-1.418e+00;SOR=0.752	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr15	38454169	38454169	G	A	exonic	FAM98B	.	nonsynonymous SNV	FAM98B:NM_173611:exon1:c.G8A:p.G3E,	.	.	433	1078	11	0	0	11	0.00507614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.197	B	0.021	B	0.034	N	0.949	N	0	N	1.0	T	-1.066	T	0.048	T	0.225	2.925	15.75	3.93	1.271	2.363	7.385	0.026	0.0108022671287	0.0009	0.000399361	0.0016	0	0.0027	0	0	0.0025	0.0028	0.0002	0.0008279	128	154602	rs149112827	0.0008	0.0008	0.0008	0.0009	0.0084	0.0008	0.0008	0.0065	0.0058	2.992e-05	0.0009	0.0091	0	0.0001	0.0084	0.0007	0.0019	0.0006	0.0009	0.0009	0.0008	0.0010	0.0025	0.0008	0.0007	0.0019	0.0016	0.0001	0	0.0025	0.0084	0	0	0.0136	0.0009	0	0.0006	0.093	0.31532	T	1.0	0.14200	T	0.049	0.22227	B	0.018	0.18489	B	0.033586	0.24878	N	0.393266	0.948912	0.26554	N	0.49	0.13296	N	1.0	0.42122	T	-0.44	0.14588	N	0.441	0.47949	-1.0661	0.10293	T	0.048	0.20474	T	10	0.008593231	0.00195	T	0.010802	0.27747	T	0.026	0.05648	.	.	0.558188439259	0.55478	0.1798066480660386	0.17899	0.156088582231	0.17621	0.714350163937	0.69223	T	0.010325	0.09336	T	-0.517764	0.00453	T	-0.522676	0.20025	T	0.0298090857252997	0.01960	T	0.687331	0.30052	T	0.061819904	0.12843	0.10834209	0.26098	0.061819904	0.12843	0.10834209	0.26097	-2.213	0.04103	T	.	.	0.086	0.17785	B	.;.	.;.	3.331766	0.45867	22.2	0.98962679551820532	0.49364	0.51247	0.28851	D	ALL	0.162775	0.28898	N	-0.260211999041283	0.30698	1.71412	-0.0759088773472968	0.36388	2.117056	1.0	0.98316	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.273489	0.05413	2	.	.	4.85	3.93	0.44666	1.970000	0.40144	9.746000	0.81453	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.191:0.0:0.809:0.0	7.385	0.26051	892	0.26670	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1173.08	34	chr15	38454169	.	G	A	1173.08	.	AC=2;AF=0.048;AN=42;DP=710;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.52;SOR=2.368	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1015	20	1	0	0
chr15	38484533	38484550	TTATGGTGGAAGAGGGGG	-	exonic	FAM98B	.	nonframeshift deletion	FAM98B:NM_173611:exon8:c.1176_1193del:p.G404_G409del,	.	.	461	1056	5	0	0	5	0.00236183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0027	.	0.0032	0.0005	0	0	0	0.0006	0	0.0151	3.84e-05	1	26028	rs767356025	0.0012	0.0010	0.0011	0.0013	0.0056	0.0011	0.0011	0.0051	0.0049	0.0004	0.0007	0.0003	0.0040	0.0004	0.0038	0.0009	0.0013	0.0056	0.0006	0.0009	0.0007	0.0006	0.0060	0.0005	0.0005	0.0037	0.0030	0.0001	0	0.0009	0.0003	0.0016	0	0	0.0007	0	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	355.94	14	chr15	38484532	.	ATTATGGTGGAAGAGGGGG	A	355.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.290e-01;DP=355;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.80;ReadPosRankSum=0.184;SOR=0.307	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,593	20	0	1	0
chr15	38500115	38500115	A	G	exonic	RASGRP1	.	nonsynonymous SNV	RASGRP1:NM_001128602:exon13:c.T1603C:p.Y535H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.195	M	-3.19	D	1.048	D	0.911	D	0.878	4.599	25.1	5.17	2.159	9.074	15.171	0.954	0.472216980368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.335	0.90898	M	-3.19	0.93170	D	-3.7	0.71397	D	0.79	0.78737	1.048	0.98077	D	0.911	0.97046	D	10	0.94652414	0.93978	D	0.472217	0.94699	D	0.954	0.99189	0.814	0.92925	0.76893090584	0.76681	0.8949520427856126	0.89466	1.45096608777	0.86159	0.8647108078	0.91803	D	0.919258	0.98542	D	0.488167	0.93951	D	0.463441	0.93874	D	0.99911230802536	0.96225	D	0.968803	0.90870	D	0.79220897	0.83411	0.7702565	0.86435	0.79220897	0.83413	0.7702565	0.86436	-11.351	0.82946	D	0.7104111486980798	0.79055	0.944	0.89954	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.835860	0.78898	27.0	0.99815023470405906	0.89885	0.98054	0.79209	D	AEFBCI	0.874251	0.79703	D	0.928067284315591	0.93065	11.79978	0.859107522753969	0.93536	12.109	0.999999999970097	0.74766	0.460665	0.09802	0	0.577304	0.33150	0	0.536957	0.11973	0	0.613276	0.41899	0	.	.	5.17	5.17	0.70848	9.302000	0.95261	3.938000	0.40583	0.756000	0.94297	1.000000	0.71638	0.996000	0.32793	0.995000	0.73285	1.0:0.0:0.0:0.0	15.171	0.72551	840	0.37365	Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Diacylglycerol/phorbol-ester binding|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain;Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Diacylglycerol/phorbol-ester binding|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain;Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Diacylglycerol/phorbol-ester binding|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain;Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Diacylglycerol/phorbol-ester binding|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2579.98	34	chr15	38500115	.	A	G	2579.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.745;DP=955;ExcessHet=0.0000;FS=0.991;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=-1.085e+00;SOR=0.609	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr15	39589895	39589895	A	G	exonic	THBS1	.	nonsynonymous SNV	THBS1:NM_003246:exon13:c.A2017G:p.M673V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.741	P	0.169	B	0.001	D	1.000	D	1.69	L	-1.05	T	-0.614	T	0.307	T	0.758	3.104	16.37	4.85	1.054	9.339	12.565	0.497	0.0424276700751	.	.	.	.	.	.	.	.	.	.	.	.	.	rs750748906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.19361	T	0.354	0.17268	T	0.243	0.30970	B	0.028	0.21332	B	0.000531	0.43581	D	0.000000	0.999503	0.47320	D	0.805	0.20218	L	-1.05	0.76690	T	-1.43	0.35194	N	0.839	0.83473	-0.6144	0.64221	T	0.307	0.67740	T	10	0.80009705	0.79424	D	0.042428	0.60457	D	0.497	0.78163	0.472	0.54699	0.920872408616	0.92006	0.6206323201827207	0.61996	0.661307580254	0.58917	0.648995876312	0.59843	T	0.310992	0.68291	T	0.183389	0.72354	D	0.025649	0.71996	D	0.671061396598816	0.39385	D	0.846715	0.52677	T	0.20743038	0.42948	0.2049179	0.44637	0.20743038	0.42948	0.2049179	0.44636	-10.337	0.75904	D	.	.	0.075	0.05535	B	.	.	3.824070	0.55237	23.6	0.97369555922543283	0.33617	0.88512	0.48474	D	AEFDBHCIJ	0.970214	0.99251	D	0.211665377615936	0.51765	3.355152	0.339021662289223	0.57848	3.952352	0.999999999990017	0.74766	0.67177	0.52595	0	0.610034	0.51514	0	0.702456	0.68683	0	0.657601	0.63696	0	.	.	5.99	4.85	0.62375	9.325000	0.96006	11.246000	0.90584	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.8752:0.0:0.0:0.1248	12.565	0.55654	878	0.29785	EGF-like domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1284.98	33	chr15	39589895	.	A	G	1284.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.120e-01;DP=874;ExcessHet=0.0000;FS=4.749;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.74;ReadPosRankSum=0.731;SOR=1.101	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1217	20	0	1	0
chr15	40206324	40206324	A	G	exonic	BUB1B	.	nonsynonymous SNV	BUB1B:NM_001211:exon15:c.A1875G:p.I625M,	Colorectal cancer, somatic;Mosaic variegated aneuploidy syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	464183	Mosaic_variegated_aneuploidy_syndrome_1	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300,Orphanet:1052	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.988	D	0.826	P	0.000	D	1.000	N	1.79	L	2.38	T	-1.075	T	0.058	T	0.201	3.153	16.54	1.87	0.350	1.059	2.594	0.096	0.00692025849505	.	0.000199681	0.0002	0	0	0.0022	0	0	0	0	0.0001294	20	154602	rs541881263	3.557e-05	3.557e-05	2.859e-05	4.263e-05	0.0011	2.762e-05	2.501e-05	0.0008	0.0008	0	0	0	0.0011	0	0	1.799e-06	3.312e-05	4.637e-05	3.283e-05	3.281e-05	6.424e-05	0	0.0008	1.26e-05	7.97e-06	0.0003	0.0002	0	0	0	0	0.0008	0	0	1.47e-05	0	0	0.008	0.61437	D	0.056	0.47336	T	0.98	0.62325	D	0.674	0.59373	P	0.000358	0.45440	D	0.097486	0.999997	0.08975	N	2.175	0.60977	M	2.38	0.15843	T	-0.45	0.14782	N	0.128	0.15187	-1.0754	0.08266	T	0.058	0.24391	T	10	0.013186306	0.00281	T	0.00692	0.18317	T	0.096	0.27654	0.529	0.63560	0.789892508457	0.78794	0.3535328335751481	0.35267	0.238024109319	0.26353	0.508973896503	0.40078	T	0.207311	0.56692	T	-0.540974	0.00331	T	-0.563078	0.16089	T	0.118855988507333	0.14318	T	0.59564	0.22108	T	0.045874964	0.07584	0.06166477	0.11944	0.045874964	0.07584	0.06166477	0.11943	-4.044	0.26592	T	.	.	0.070	0.04119	B	.;.	.;.	2.464181	0.31747	18.84	0.99517764276461707	0.69040	0.21102	0.21282	N	AEFDBI	0.035675	0.04632	N	-0.102597681259485	0.37280	2.166613	-0.175648982003127	0.32434	1.845244	0.61341096060228	0.21823	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.51	1.87	0.24559	1.119000	0.30872	0.180000	0.15620	-0.348000	0.05616	0.635000	0.28042	0.000000	0.08366	0.979000	0.57723	0.2895:0.4506:0.115:0.1449	2.594	0.04555	759	0.50631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2243.98	33	chr15	40206324	.	A	G	2243.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.03;DP=859;ExcessHet=0.0000;FS=2.722;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=0.394;SOR=0.532	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1262	20	0	1	0
chr15	40265939	40265939	G	A	exonic	BUB1B-PAK6;PAK6	.	nonsynonymous SNV	PAK6:NM_001276717:exon3:c.G302A:p.R101H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.095	M	-2.54	D	0.823	D	0.830	D	0.738	4.365	23.0	5.38	2.539	9.810	17.311	0.671	0.155564087686	.	.	3.362e-05	0	0	0	0	6.025e-05	0	0	1.94e-05	3	154602	rs763340659	1.513e-05	1.573e-05	2.324e-05	6.918e-06	3.001e-05	9.9e-06	8.46e-06	1.096e-05	8.83e-06	3.001e-05	2.262e-05	0	0	0	0	1.713e-05	1.668e-05	0	1.969e-05	1.968e-05	2.569e-05	1.342e-05	4.81e-05	5.24e-06	2.45e-06	7.97e-06	2.98e-06	4.81e-05	0	0	0	0	0	0.0034	0	0	0	0.0	0.91255	D	0.003	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	0.000004	0.62929	D	0.061048	1	0.81001	D	0.975	0.24501	L	-2.54	0.91192	D	-4.25	0.81595	D	0.589	0.73195	0.823	0.94690	D	0.830	0.94288	D	10	0.8555777	0.84753	D	0.155564	0.83648	D	0.671	0.87820	.	.	0.956424727649	0.95596	0.49776984982383954	0.49697	0.706135060893	0.61435	0.707015514374	0.68160	T	0.715841	0.91930	D	0.158385	0.70051	D	0.178183	0.81890	D	0.968309998512268	0.68198	D	0.963604	0.88824	D	0.6249458	0.74028	0.49886546	0.71025	0.6249458	0.74029	0.49886546	0.71025	-5.85	0.45008	T	.	.	0.456	0.73190	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.161803	0.86488	28.9	0.99952707921374606	0.99957	0.99426	0.95879	D	AEFBI	0.908950	0.86493	D	0.761970754659504	0.83683	8.081793	0.706572114101071	0.82877	7.877458	0.999999999999902	0.74766	0.646311	0.45356	0	0.588015	0.36545	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.38	5.38	0.77279	9.970000	0.99128	11.850000	0.98050	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.0:1.0:0.0	17.311	0.87096	604	0.67577	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1578.98	34	chr15	40265939	.	G	A	1578.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.15;DP=1031;ExcessHet=0.0000;FS=10.077;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.16;ReadPosRankSum=1.61;SOR=1.294	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1252	20	0	1	0
chr15	40272639	40272639	G	A	exonic	BUB1B-PAK6;PAK6	.	nonsynonymous SNV	PAK6:NM_001276717:exon4:c.G1274A:p.R425Q	.	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.998	D	0.748	P	0.000	D	1.000	D	0.575	N	1.0	T	-0.666	T	0.238	T	0.563	4.675	25.8	5.32	2.495	3.635	19.036	0.175	0.0181280413464	0.0008	0.000998403	0.0010	0.0003	0.0002	0.0002	0	0.0014	0	0.0014	0.0009314	144	154602	rs145647822	0.0012	0.0012	0.0012	0.0013	0.0014	0.0012	0.0012	0.0014	0.0013	0.0001	0.0003	3.828e-05	0.0001	0.0001	0.0002	0.0014	0.0010	0.0013	0.0011	0.0011	0.0011	0.0010	0.0023	0.0009	0.0009	0.0014	0.0013	0.0005	0	0.0011	0	0.0002	9.416e-05	0	0.0017	0.0005	0.0023	0.211	0.20078	T	0.098	0.43721	T	0.998	0.73220	D	0.741	0.55725	P	0.000390	0.44960	D	0.188888	0.999976	0.53665	D	0.695	0.17993	N	-0.15	0.65192	T	-0.83	0.22727	N	0.546	0.57860	-0.6660	0.62009	T	0.238	0.60571	T	10	0.036922723	0.02016	T	0.018128	0.40089	T	0.175	0.44197	.	.	0.81854064889	0.81682	0.5483410682020672	0.54760	0.667960691037	0.59274	0.762416779995	0.76290	T	0.178754	0.52951	T	-0.308792	0.07854	T	-0.251713	0.49648	T	0.047239877984073	0.05008	T	0.922108	0.71672	D	0.44630244	0.63806	0.24089983	0.49474	0.44630244	0.63807	0.24089983	0.49473	-5.389	0.40813	T	.	.	0.083	0.12418	B	.;.;.;.;.	.;.;.;.;.	4.615419	0.73231	26.0	0.99937013797585528	0.99661	0.89125	0.49405	D	AEFBHCI	0.508918	0.53860	D	0.431766602557291	0.63175	4.546473	0.488626555078669	0.67233	5.056898	0.999999898334937	0.74766	0.631981	0.41245	0	0.61073	0.52368	0	0.779548	0.98927	0	0.584449	0.35598	0	.	.	5.32	5.32	0.75377	3.727000	0.54711	8.728000	0.78178	0.676000	0.76740	0.987000	0.36337	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	19.036	0.92961	628	0.65206	.;.;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2252.98	39	chr15	40272639	.	G	A	2252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=983;ExcessHet=0.0000;FS=4.554;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.41;ReadPosRankSum=0.574;SOR=0.425	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr15	40282013	40282013	C	A	exonic	ANKRD63	.	nonsynonymous SNV	ANKRD63:NM_001190479:exon1:c.G574T:p.D192Y,	.	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	.	.	.	.	.	.	1.000	D	0.345	N	0.92	T	-1.033	T	0.072	T	0.65	1.990	12.61	3.32	1.681	1.892	9.993	0.145	0.402360561025	.	0.00199681	.	.	.	.	.	.	.	.	0.00146	38	26028	rs572210203	0.0043	0.0034	0.0042	0.0044	0.0056	0.0042	0.0041	0.0048	0.0045	0.0006	0.0015	0.0016	0	0.0114	0.0011	0.0044	0.0026	0.0056	0.0037	0.0037	0.0032	0.0042	0.0044	0.0034	0.0033	0.0039	0.0038	0.0009	0	0.0034	0.0012	0.0002	0.0141	0	0.0044	0.0014	0.0037	0.001	0.78490	D	0.449	0.12993	T	.	.	.	.	.	.	.	.	.	.	0.909791	0.36381	D	0	0.06538	N	0.92	0.44461	T	-0.38	0.13418	N	0.42	0.45992	-1.0333	0.19395	T	0.072	0.29227	T	7	0.0075303614	0.00171	T	0.402361	0.93425	D	0.145	0.38592	.	.	.	.	0.5309691836472932	0.53020	.	.	0.954644918442	0.99839	D	0.015308	0.12863	T	-0.326588	0.06374	T	-0.242042	0.50600	T	0.287603742991469	0.24489	T	0.559044	0.19511	T	0.1921481	0.40872	0.41043988	0.65304	0.1921481	0.40872	0.41043988	0.65304	-6.39	0.49432	T	.	.	0.308	0.53610	B	.	.	3.793136	0.54605	23.5	0.97779828318649908	0.35925	0.88353	0.48242	D	AEFDBCI	0.251277	0.37117	N	-0.137613655691965	0.35763	2.058375	-0.0937219625594848	0.35649	2.064984	0.999998760555972	0.74766	0.437478	0.07067	0	0.491552	0.07993	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.32	3.32	0.37134	3.556000	0.53480	5.474000	0.48705	0.497000	0.22564	1.000000	0.71638	1.000000	0.68203	0.295000	0.24381	0.0:1.0:0.0:0.0	9.993	0.41057	650	0.62973	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	889.98	23	chr15	40282013	.	C	A	889.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.039;DP=520;ExcessHet=0.0000;FS=1.528;InbreedingCoeff=-0.0248;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.74;ReadPosRankSum=3.000e-03;SOR=0.712	GT:AD:DP:GQ:PL	0/0:24,0:24:49:0,49,649	20	0	1	0
chr15	40337785	40337785	G	A	exonic	CCDC9B	.	nonsynonymous SNV	CCDC9B:NM_207380:exon6:c.C754T:p.R252W,	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.006	N	0.992	D	2.255	M	-0.7	T	-0.134	T	0.478	T	0.797	4.245	22.1	2.67	0.325	1.903	9.722	0.588	0.132140717494	7.7e-05	.	0.0001	0.0001	0	0.0007	0	3.219e-05	0	0.0002	9.06e-05	14	154602	rs369729337	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	2.241e-05	0	7.558e-05	0	0	0.0002	0.0002	0.0001	9.856e-05	9.85e-05	6.423e-05	0.0001	0.0004	6.007e-05	4.88e-05	6.816e-05	5.087e-05	7.241e-05	0	0	0	0.0004	0	0	0.0001	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.006053	0.32309	N	0.190458	0.992437	0.41644	D	.	.	.	-0.7	0.72785	T	-8.0	0.96495	D	0.692	0.70263	-0.1342	0.79303	T	0.478	0.79996	T	10	0.73601866	0.74626	D	0.132141	0.81444	D	0.588	0.83526	.	.	0.717575603647	0.71508	0.5986707839489119	0.59798	0.403205941033	0.41266	.	.	.	0.300392	0.67289	T	-0.0561404	0.43510	T	0.00159147	0.70440	D	0.524106860160828	0.33517	D	0.948705	0.86052	D	0.64495295	0.75095	0.47391304	0.69508	0.64495295	0.75096	0.47391304	0.69508	-10.127	0.74669	D	.	.	0.600	0.68892	P	.;.	.;.	4.517921	0.70805	25.6	0.99912687413758339	0.98167	0.56034	0.30014	D	AEFDBHCI	0.560676	0.56898	D	0.40920267341663	0.61926	4.400682	0.315250906739183	0.56434	3.806831	0.999981138742264	0.51787	0.489673	0.17934	0	0.547309	0.14657	0	0.596394	0.31383	0	0.662433	0.64102	0	.	.	4.63	2.67	0.30756	1.797000	0.38438	1.116000	0.24201	0.676000	0.76740	0.998000	0.41325	0.644000	0.25929	0.999000	0.91618	0.0:0.0:0.5974:0.4026	9.722	0.39477	702	0.57624	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1190.98	85	chr15	40337785	.	G	A	1190.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.09;DP=808;ExcessHet=0.0000;FS=2.858;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.01;ReadPosRankSum=0.053;SOR=0.858	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1396	20	0	1	0
chr15	40356171	40356171	T	0	exonic	PHGR1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2667	5832.96	33	chr15	40356171	.	T	C,*	5832.96	.	AC=6,2;AF=0.200,0.067;AN=30;BaseQRankSum=0.782;DP=1060;ExcessHet=0.7503;FS=26.034;InbreedingCoeff=0.0319;MLEAC=8,3;MLEAF=0.267,0.100;MQ=59.86;MQRankSum=0.00;QD=14.77;ReadPosRankSum=-8.330e-01;SOR=1.530	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:44,0,0:44:0:.:.:0,0,0,0,0,0	8	1	4	6
chr15	40356195	40356195	T	0	exonic	PHGR1	.	.	.	.	.	539	674	108	8	193	317	0.0842391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2667	4456.62	33	chr15	40356195	.	T	C,*	4456.62	.	AC=6,2;AF=0.200,0.067;AN=30;BaseQRankSum=-1.037e+00;DP=1008;ExcessHet=0.5418;FS=9.495;InbreedingCoeff=-0.1085;MLEAC=7,2;MLEAF=0.233,0.067;MQ=59.85;MQRankSum=0.00;QD=10.82;ReadPosRankSum=-1.283e+00;SOR=1.256	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:45,0,0:45:0:.:.:0,0,524,0,524,524	8	1	4	6
chr15	40356196	40356196	G	0	exonic	PHGR1	.	.	.	.	.	536	677	108	8	193	317	0.0838972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2667	4344.62	33	chr15	40356196	.	G	C,*	4344.62	.	AC=6,2;AF=0.200,0.067;AN=30;BaseQRankSum=0.941;DP=999;ExcessHet=0.5418;FS=8.160;InbreedingCoeff=-0.1085;MLEAC=7,2;MLEAF=0.233,0.067;MQ=59.84;MQRankSum=0.00;QD=10.65;ReadPosRankSum=-1.374e+00;SOR=1.208	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:45,0,0:45:0:.:.:0,0,524,0,524,524	8	1	4	6
chr15	40356197	40356197	G	0	exonic	PHGR1	.	.	.	.	.	535	678	108	8	193	317	0.0837838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2353	4345.87	33	chr15	40356197	.	G	A,*	4345.87	.	AC=6,2;AF=0.176,0.059;AN=34;BaseQRankSum=0.00;DP=1001;ExcessHet=0.5418;FS=8.243;InbreedingCoeff=-0.0558;MLEAC=7,2;MLEAF=0.206,0.059;MQ=59.84;MQRankSum=0.00;QD=10.70;ReadPosRankSum=-1.551e+00;SOR=1.232	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:45,0,0:45:0:.:.:0,0,524,0,524,524	10	1	4	4
chr15	40367236	40367236	A	T	exonic	DISP2	.	nonsynonymous SNV	DISP2:NM_033510:exon8:c.A1124T:p.Y375F,	.	.	419	1092	11	0	0	11	0.00501139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.997	D	0.000	D	1.000	D	1.425	L	2.06	T	-1.072	T	0.081	T	0.502	3.577	18.23	5.1	2.148	8.750	15.048	0.374	0.0138015359055	0.0038	0.000599042	0.0028	0.0007	0.0016	0	0.0011	0.0041	0.0022	0.0017	0.0029819	461	154602	rs140120816	0.0047	0.0047	0.0047	0.0047	0.0057	0.0046	0.0046	0.0055	0.0055	0.0007	0.0015	3.826e-05	0	0.0007	0.0033	0.0057	0.0038	0.0020	0.0031	0.0031	0.0032	0.0030	0.0054	0.0028	0.0027	0.0050	0.0048	0.0010	0.0132	0.0012	0	0.0002	0.0004	0.0102	0.0054	0.0043	0.0010	0.126	0.27194	T	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.79	0.81396	M	2.06	0.20523	T	-3.44	0.67477	D	0.524	0.55366	-1.0718	0.09022	T	0.081	0.31913	T	10	0.010289907	0.00230	T	0.013802	0.33474	T	0.374	0.69273	.	.	0.40318662893	0.39936	0.6264669422324108	0.62579	1.13346350566	0.78696	0.610062718391	0.54325	T	0.406913	0.76268	T	-0.374259	0.03384	T	-0.309421	0.43720	T	0.0292433844621151	0.01874	T	0.835616	0.50622	T	0.35556233	0.57497	0.20925325	0.45262	0.35556233	0.57497	0.20925325	0.45261	-7.58	0.58171	D	.	.	0.192	0.41171	B	.	.	3.953223	0.57923	23.9	0.98327876198374875	0.40309	0.96947	0.71814	D	AEFGBCI	0.910034	0.86743	D	0.585146463874341	0.72247	5.775778	0.545486328544865	0.71082	5.601267	0.999999999999702	0.74766	0.582742	0.33608	0	0.610034	0.51514	0	0.61531	0.40942	0	0.530356	0.10902	0	.	.	5.1	5.1	0.68917	8.723000	0.91189	11.292000	0.92056	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.494000	0.28882	1.0:0.0:0.0:0.0	15.048	0.71509	706	0.57215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1508.98	35	chr15	40367236	.	A	T	1508.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.25;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=0.887;SOR=0.665	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1155	20	0	1	0
chr15	40367724	40367724	G	A	exonic	DISP2	.	nonsynonymous SNV	DISP2:NM_033510:exon8:c.G1612A:p.A538T,	.	.	411	1110	1	0	0	1	0.000450248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.045	B	0.028	B	0.000	D	0.673	D	0.055	N	-3.76	D	-0.116	T	0.591	D	0.374	0.783	8.129	4.66	1.362	3.001	4.258	0.317	0.0252637967093	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1213871373	2.053e-06	3.42e-06	1.362e-06	2.751e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	0	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.662	0.04671	T	1.0	0.01155	T	0.045	0.21781	B	0.028	0.21332	B	0.000004	0.62929	D	0.102292	0.672806	0.33159	D	-0.02	0.05091	N	-3.76	0.95561	D	0.09	0.05917	N	0.157	0.16308	-0.1160	0.79728	T	0.591	0.85377	D	10	0.10656673	0.19754	T	0.025264	0.48245	D	0.317	0.63904	0.414	0.45216	0.377799810692	0.37387	0.4864676588770443	0.48566	0.45656381799	0.45305	0.480903834105	0.36181	T	0.133716	0.46455	T	0.114825	0.65849	D	-0.0728389	0.65423	T	0.321873015128735	0.25898	T	0.824517	0.48627	T	0.079439	0.18149	0.08795738	0.20477	0.079439	0.18149	0.08795738	0.20477	-4.28	0.27896	T	.	.	0.085	0.09965	B	.	.	2.202686	0.28093	17.68	0.9236944990939322	0.21774	0.87805	0.47471	D	AEFDGBHCI	0.188959	0.31623	N	-0.315774357600242	0.28548	1.575571	-0.0908879631296138	0.35765	2.073135	0.999999998282465	0.74766	0.652421	0.48094	0	0.552344	0.17405	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	5.58	4.66	0.57857	3.041000	0.49496	6.719000	0.56424	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.2396:0.0:0.5939:0.1664	4.258	0.10174	706	0.57215	Sterol-sensing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2304.98	35	chr15	40367724	.	G	A	2304.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.547e+00;DP=1037;ExcessHet=0.0000;FS=1.186;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=-9.470e-01;SOR=0.594	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr15	40415454	40415454	C	T	exonic	IVD	.	nonsynonymous SNV	IVD:NM_001159508:exon8:c.C842T:p.A281V	Isovaleric acidemia, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	18607	not_provided|IVD-related_disorder|Inborn_genetic_diseases|Isovaleryl-CoA_dehydrogenase_deficiency	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009475,MedGen:C0268575,OMIM:243500,Orphanet:33	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	0	D	0.973	D	0.846	P	0.000	D	1.000	A	2.16	M	-3.92	D	-0.341	T	0.395	T	0.924	5.472	35	5.38	2.520	7.217	19.134	0.184	0.188327852901	0.0007	0.000399361	0.0007	0.0003	0.0005	0	0	0.0012	0.0011	0	0.0008344	129	154602	rs28940889	0.0009	0.0009	0.0009	0.0009	0.0011	0.0009	0.0009	0.0011	0.0011	5.974e-05	0.0004	0	0	0.0004	0.0002	0.0011	0.0006	1.159e-05	0.0007	0.0007	0.0007	0.0007	0.0014	0.0006	0.0006	0.0012	0.0011	0.0002	0	0.0003	0	0	0.0003	0	0.0014	0.0005	0	0.002	0.72154	D	0.014	0.62352	D	.	.	.	.	.	.	0.000000	0.84330	D	0.047188	1	0.81001	A	.	.	.	-3.92	0.96562	D	-1.7	0.40468	N	0.804	0.81162	-0.3411	0.73812	T	0.395	0.74778	T	9	0.2668892	0.44196	T	0.188328	0.85994	D	0.887	0.96725	.	.	0.964643876972	0.96426	.	.	0.637825220788	0.57520	0.742085814476	0.73279	T	0.665162	0.89998	D	0.175631	0.71641	D	0.480459	0.94208	D	0.135933771729469	0.15920	T	0.985001	0.95079	D	0.77038425	0.82071	0.55279213	0.74139	0.74941295	0.80836	0.6150786	0.77597	-10.796	0.78527	D	.	.	0.341	0.55957	A	.;.;.	.;.;.	5.170184	0.86660	29.0	0.99911849482036308	0.98095	0.96179	0.67897	D	AEFDBCI	0.923752	0.90071	D	0.479759478002188	0.65910	4.882219	0.5441237129867	0.70988	5.587	0.999999999999999	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.38	5.38	0.77279	7.357000	0.78710	7.708000	0.66649	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.134	0.93403	659	0.61982	Acyl-CoA dehydrogenase/oxidase C-terminal;.;Acyl-CoA dehydrogenase/oxidase C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1005.98	34	chr15	40415454	.	C	T	1005.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.464;DP=796;ExcessHet=0.0000;FS=1.814;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=-2.048e+00;SOR=0.745	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1174	20	0	1	0
chr15	40569840	40569840	C	T	exonic	RPUSD2	.	nonsynonymous SNV	RPUSD2:NM_152260:exon1:c.C503T:p.T168I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.731	P	0.342	B	0.001	D	1.000	D	2.345	M	1.4	T	-0.986	T	0.114	T	0.416	3.617	18.40	5.0	1.478	1.403	11.864	0.123	0.0122947782461	.	.	9.979e-06	0	0	0	0	1.763e-05	0	0	6.5e-06	1	154602	rs755245364	6.848e-07	6.84e-07	0	1.377e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.33418	T	0.163	0.60337	T	0.731	0.42679	P	0.342	0.42471	B	0.000804	0.41658	D	0.316853	0.968397	0.81001	D	2.295	0.65404	M	1.4	0.33630	T	-2.42	0.53096	N	0.533	0.56145	-0.9860	0.33590	T	0.114	0.40559	T	10	0.267299	0.44240	T	0.012295	0.30730	T	0.123	0.34020	0.44	0.49484	0.518641613453	0.51507	0.47111144063666466	0.47030	0.508147342474	0.48980	0.592266798019	0.51814	T	0.223295	0.69252	T	-0.0899163	0.38089	T	-0.366935	0.37248	T	0.929599046707153	0.59376	D	0.952605	0.81930	D	0.2224624	0.44846	0.35294014	0.60864	0.2224624	0.44846	0.35294014	0.60863	-7.556	0.58003	D	.	.	0.391	0.67441	A	.;.	.;.	3.704913	0.52863	23.3	0.99732394120687951	0.82833	0.61206	0.31417	D	AEFDGBCIJ	0.240374	0.36217	N	0.270837192239157	0.54676	3.632686	0.311917883032116	0.56238	3.787003	0.999999998464958	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.93	5.0	0.66209	1.449000	0.34734	2.735000	0.34419	0.599000	0.40250	0.885000	0.31090	0.994000	0.32194	0.989000	0.64315	0.138:0.7293:0.1327:0.0	11.864	0.51762	654	0.62520	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1684.98	36	chr15	40569840	.	C	T	1684.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.37;DP=907;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.27;ReadPosRankSum=-2.581e+00;SOR=0.739	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1098	20	0	1	0
chr15	40621714	40621714	A	G	exonic	KNL1	.	nonsynonymous SNV	KNL1:NM_144508:exon10:c.A1450G:p.M484V	Microcephaly 4, primary, autosomal recessive, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.759	P	0.187	B	0.000	D	1.000	N	2.31	M	2.04	T	-0.954	T	0.059	T	0.481	1.676	11.56	5.94	2.269	3.441	12.191	0.106	0.00709341859946	.	.	3.33e-05	0	0	0	0	6.026e-05	0	0	3.23e-05	5	154602	rs752739201	3.698e-05	3.694e-05	3.544e-05	3.854e-05	0.0005	2.897e-05	2.595e-05	0.0001	7.555e-05	0	2.24e-05	0	0	1.873e-05	0.0005	4.142e-05	4.971e-05	0	5.255e-05	5.253e-05	7.707e-05	2.689e-05	0.0001	2.557e-05	1.83e-05	4.765e-05	3.339e-05	2.412e-05	0	0	0	0	0	0	0.0001	0	0	0.007	0.59928	D	0.14	0.34009	T	0.759	0.43487	P	0.187	0.36167	B	0.000028	0.55875	D	0.075697	1	0.81001	D	.	.	.	2.04	0.20808	T	-2.57	0.55501	D	0.505	0.53708	-0.9542	0.40238	T	0.059	0.24871	T	10	0.26937047	0.44462	T	0.007093	0.18786	T	0.106	0.30130	.	.	0.548779645056	0.54534	0.4220247397735816	0.42119	0.0379999867787	0.04038	0.36309209466	0.19836	T	0.495673	0.81829	T	-0.204729	0.20126	T	-0.37549	0.36250	T	0.181403973969656	0.19323	T	0.533147	0.17760	T	0.2349856	0.46327	0.25351772	0.51000	0.2349856	0.46327	0.25351772	0.50999	-6.419	0.51000	T	0.6600017479360973	0.73334	0.177	0.43626	B	.;.;.	.;.;.	2.226792	0.28424	17.79	0.98252969420110958	0.39594	0.97500	0.75152	D	AEFBI	0.204798	0.33121	N	0.346448941271405	0.58553	4.028167	0.408031725712069	0.62064	4.415764	0.895777591097297	0.25962	0.732398	0.92422	0	0.653731	0.59785	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.94	5.94	0.96165	3.777000	0.55071	9.213000	0.79249	-0.040000	0.17491	0.998000	0.41325	1.000000	0.68203	0.658000	0.32913	0.9321:0.0:0.0679:0.0	12.191	0.53582	463	0.78548	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1223.98	80	chr15	40621714	.	A	G	1223.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.110e+00;DP=1834;ExcessHet=0.0000;FS=0.798;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.75;ReadPosRankSum=-9.500e-02;SOR=0.646	GT:AD:DP:GQ:PL	0/0:77,0:77:99:0,120,1800	20	0	1	0
chr15	40624282	40624282	G	T	exonic	KNL1	.	nonsynonymous SNV	KNL1:NM_144508:exon10:c.G4018T:p.A1340S	Microcephaly 4, primary, autosomal recessive, Autosomal recessive	.	0	1513	9	0	0	9	0.0029654	.	.	2476583	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.73	T	0.019	B	0.013	B	0.604	N	1.000	N	-0.345	N	2.32	T	-0.985	T	0.013	T	0.177	0.014	4.085	-3.23	-0.435	-1.256	0.498	0.021	0.00176735739501	.	.	4.97e-05	0	0	0	0	7.494e-05	0	6.058e-05	5.17e-05	8	154602	rs764310658	4.994e-05	4.994e-05	4.901e-05	5.088e-05	0.0012	4.059e-05	3.734e-05	0.0006	0.0004	0	2.236e-05	0	0	1.874e-05	0.0012	4.587e-05	0.0001	6.956e-05	4.6e-05	4.597e-05	6.425e-05	2.69e-05	8.821e-05	2.109e-05	1.527e-05	3.762e-05	2.575e-05	2.413e-05	0	0	0	0	0	0	8.821e-05	0	0	0.229	0.18371	T	0.585	0.08505	T	0.007	0.17989	B	0.007	0.15521	B	0.604327	0.05664	N	1.224870	1	0.08975	N	.	.	.	2.32	0.16640	T	-0.27	0.11366	N	0.033	0.01999	-0.9853	0.33760	T	0.013	0.05273	T	10	0.04627055	0.03798	T	0.001767	0.03012	T	0.021	0.04004	.	.	0.0846915920261	0.08053	0.11093382128331554	0.11022	0.0374116781797	0.03967	0.241384193301	0.02916	T	0.02716	0.19952	T	-0.431075	0.01460	T	-0.665304	0.07912	T	0.0449456677981639	0.04592	T	0.531147	0.17633	T	0.034449313	0.03867	0.03742495	0.03392	0.034449313	0.03867	0.03742495	0.03391	-2.393	0.05090	T	0.5790308000829154	0.64591	0.111	0.24867	B	.;.;.	.;.;.	0.286389	0.06629	3.126	0.92668384724892827	0.22150	0.03574	0.08788	N	AEFBCI	0.031975	0.03525	N	-1.36099095644008	0.03012	0.1339094	-1.36566190873941	0.03624	0.1694563	0.925590276777297	0.26821	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.27	-3.23	0.04794	-1.031000	0.03689	0.320000	0.17174	0.610000	0.48991	0.000000	0.06391	0.011000	0.20116	0.108000	0.18652	0.345:0.2096:0.2459:0.1995	0.498	0.00537	472	0.77968	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1425.98	36	chr15	40624282	.	G	T	1425.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.330e-01;DP=1024;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.64;ReadPosRankSum=0.203;SOR=0.683	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	20	0	1	0
chr15	40808308	40808308	G	A	exonic	ZFYVE19	.	nonsynonymous SNV	ZFYVE19:NM_032850:exon2:c.G179A:p.R60Q,	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	.	.	.	.	.	.	1.000	N	.	.	1.7	T	-1.015	T	0.042	T	0.04	1.400	10.62	2.79	0.870	0.031	6.144	0.030	0.00140092744854	0.0003	.	0.0001	0.0002	0	0	0	0.0001	0	0.0002	9.7e-05	15	154602	rs374167712	8.784e-05	8.824e-05	7.849e-05	9.728e-05	7.198e-05	7.503e-05	7.047e-05	5.887e-05	5.453e-05	2.988e-05	0	0.0011	0	2.628e-05	0	7.198e-05	0.0002	6.957e-05	7.899e-05	7.883e-05	7.719e-05	8.088e-05	8.825e-05	4.504e-05	3.518e-05	3.763e-05	2.576e-05	0	0	0	0.0017	0	0	0	8.825e-05	0	0	0.377	0.11298	T	0.391	0.15456	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.7	0.26885	T	0.11	0.05706	N	0.157	0.16308	-1.0146	0.25464	T	0.042	0.17869	T	6	0.025811285	0.00764	T	0.001401	0.02062	T	0.030	0.07022	.	.	0.0482279557977	0.04254	.	.	.	.	0.171017423272	0.00036	T	.	.	.	-0.542705	0.00323	T	-0.780666	0.02433	T	0.00724485510015628	0.00083	T	0.374863	0.08927	T	.	.	.	.	.	.	.	.	-3.865	0.21779	T	.	.	0.080	0.07602	B	.	.	0.309442	0.06847	3.375	0.58364373786188428	0.05976	0.00437	0.02136	N	AEFDGBCI	0.016790	0.00399	N	-0.722948422585148	0.15378	0.774454	-0.848888677245303	0.13314	0.6900164	0.999996697530111	0.74766	0.608746	0.35421	0	0.516746	0.08562	0	0.731467	0.93227	0	0.627883	0.49187	0	.	.	4.0	2.79	0.31792	0.025000	0.13469	-0.705000	0.07776	-0.719000	0.03822	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	0.8845:0.0:0.1155:0.0	6.144	0.19493	233	0.90919	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1169.98	45	chr15	40808308	.	G	A	1169.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.060e-01;DP=930;ExcessHet=0.0000;FS=0.658;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.00;ReadPosRankSum=0.535;SOR=0.603	GT:AD:DP:GQ:PL	0/1:75,55:130:99:1184,0,1729	20	0	1	0
chr15	40809968	40809968	C	T	exonic	ZFYVE19	.	nonsynonymous SNV	ZFYVE19:NM_001077268:exon4:c.C569T:p.P190L	.	.	426	1093	3	0	0	3	0.00137049	0.9996	0.908	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	1.0	D	0.000	D	1.000	D	2.25	M	2.38	T	-1.000	T	0.129	T	0.659	4.518	24.3	5.7	2.692	5.492	17.328	0.142	0.0321947665302	0.0010	0.000599042	0.0014	0.0006	0.0003	0	0	0.0017	0.0022	0.0028	0.0013389	207	154602	rs190799376	0.0019	0.0019	0.0019	0.0019	0.0024	0.0018	0.0018	0.0022	0.0021	0.0004	0.0005	0.0008	2.519e-05	0.0003	0	0.0021	0.0015	0.0024	0.0010	0.0010	0.0011	0.0009	0.0019	0.0009	0.0008	0.0016	0.0015	0.0003	0	0.0003	0.0006	0	0.0003	0	0.0019	0.0014	0.0004	0.012	0.68238	D	0.003	0.92824	D	0.989	0.90584	D	0.856	0.97372	P	0.000000	0.84330	D	0.049136	1	0.81001	D	1.93	0.51437	L	2.3	0.63240	T	-4.95	0.98283	D	0.538	0.56576	-1.0004	0.29803	T	0.129	0.43848	T	10	0.014516145	0.00305	T	0.032195	0.54088	D	0.142	0.37995	.	.	0.844069491511	0.84257	0.4235904099948185	0.42276	0.611375883647	0.55778	0.438167005777	0.30327	T	0.16185	0.50626	T	-0.224382	0.17399	T	-0.0997009	0.63421	T	0.0375764090398765	0.03256	T	0.940956	0.78341	D	0.33799645	0.56119	0.3043717	0.56466	0.33799645	0.56119	0.3043717	0.56465	-5.815	0.55366	T	.	.	0.122	0.35456	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.032288	0.83707	28.1	0.99901709152583851	0.97350	0.95793	0.66178	D	AEFDGBI	0.736583	0.68204	D	0.738270473018541	0.82140	7.689519	0.715215548012776	0.83532	8.04684	0.999999999998798	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.7	5.7	0.88690	3.305000	0.51580	6.014000	0.52691	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.731000	0.35132	0.0:1.0:0.0:0.0	17.328	0.87140	231	0.90996	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1430.98	37	chr15	40809968	.	C	T	1430.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.89;DP=831;ExcessHet=0.0000;FS=0.701;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=-1.125e+00;SOR=0.798	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1110	20	0	1	0
chr15	40844762	40844762	A	C	exonic	SPINT1	.	nonsynonymous SNV	SPINT1:NM_001032367:exon1:c.A208C:p.S70R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.012	B	0.007	B	0.004	N	1.000	N	0.95	L	1.93	T	-1.020	T	0.034	T	0.334	1.890	12.28	1.2	0.010	2.215	5.806	0.046	0.0122649523493	.	0.000599042	0.0002	0	0	0	0	0	0	0.0015	0.0001682	26	154602	rs553670634	5.756e-05	5.814e-05	3.953e-05	7.578e-05	0.0009	4.751e-05	4.373e-05	0.0007	0.0007	0	0	0	0	0	0	0	0.0001	0.0009	5.252e-05	5.249e-05	3.854e-05	6.712e-05	0.0017	2.555e-05	1.829e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.563	0.13834	T	0.911	0.06186	T	0.002	0.16265	B	0.004	0.12992	B	0.003617	0.34713	N	0.351766	0.86561	0.29752	N	1.405	0.35469	L	1.93	0.22881	T	-0.12	0.14193	N	0.132	0.12770	-1.0202	0.23649	T	0.034	0.14769	T	10	0.018105745	0.00391	T	0.012265	0.30673	T	0.046	0.12618	0.601	0.73226	0.246773566709	0.24272	0.45712219036125085	0.45630	0.211475675499	0.23653	0.466696768999	0.34228	T	0.056859	0.30407	T	-0.438109	0.01327	T	-0.452531	0.27417	T	0.0756958797574043	0.09427	T	0.767723	0.40735	T	0.17505017	0.38342	0.06490178	0.13078	0.17505017	0.38341	0.06490178	0.13077	-0.473	0.00567	T	.	.	0.240	0.47611	B	.;.;.;.	.;.;.;.	1.864800	0.23687	16.11	0.98362156287383229	0.40658	0.68749	0.33920	D	AEFDGBHCI	0.419166	0.48651	N	-0.502131523059776	0.22012	1.172321	-0.376468169787541	0.25700	1.414948	0.999999979085396	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.52208	0.10781	0	0.604282	0.37693	0	.	.	4.84	1.2	0.20181	1.802000	0.38490	1.140000	0.24397	0.751000	0.87719	1.000000	0.71638	0.158000	0.23238	0.927000	0.46353	0.5853:0.1716:0.2431:0.0	5.806	0.17702	194	0.92479	.;Seven cysteines, N-terminal|MANSC domain|Seven cysteines, N-terminal;Seven cysteines, N-terminal|MANSC domain|Seven cysteines, N-terminal;Seven cysteines, N-terminal|MANSC domain|Seven cysteines, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2748.98	34	chr15	40844762	.	A	C	2748.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.840e-01;DP=964;ExcessHet=0.0000;FS=2.818;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.13;ReadPosRankSum=-1.270e-01;SOR=0.902	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1092	20	0	1	0
chr15	40856300	40856300	G	A	exonic	SPINT1	.	nonsynonymous SNV	SPINT1:NM_001032367:exon9:c.G1313A:p.R438Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.839	P	0.237	B	0.002	N	1.000	N	2.2	M	-3.68	D	0.526	D	0.758	D	0.729	3.059	16.21	5.38	2.692	3.823	16.407	0.608	0.11408444042	7.7e-05	0.000399361	0.0002	0	0	0.0016	0	7.494e-05	0	6.056e-05	0.0001488	23	154602	rs200944233	0.0002	0.0002	0.0001	0.0002	0.0016	0.0001	0.0001	0.0013	0.0012	0	0	0	0.0016	1.872e-05	0	0.0001	0.0003	6.956e-05	0.0001	0.0001	8.996e-05	0.0001	0.0031	7.574e-05	6.28e-05	0.0019	0.0016	0	0	6.539e-05	0	0.0031	0	0	1.47e-05	0	0	0.084	0.35349	T	0.294	0.20745	T	0.598	0.42074	P	0.174	0.35961	B	0.001554	0.38671	N	0.296958	1	0.81001	D	2.77	0.80896	M	-3.68	0.97292	D	-0.14	0.10656	N	0.382	0.42345	0.526	0.90906	D	0.758	0.91753	D	10	0.030551314	0.01183	T	0.114084	0.79282	D	0.608	0.84613	.	.	0.897704188702	0.89669	0.4328157636921333	0.43198	0.289894027274	0.31394	0.386019527912	0.23107	T	0.086461	0.37729	T	0.00457938	0.52285	T	0.233794	0.84854	D	0.0707039729706138	0.08749	T	0.877412	0.59112	D	0.115876086	0.27339	0.095650144	0.22695	0.115876086	0.27338	0.095650144	0.22694	-5.456	0.50425	T	.	.	0.097	0.15832	B	.;.;.;.	.;.;.;.	3.289230	0.45099	22.1	0.99828648867927161	0.91026	0.95505	0.64988	D	AEFDGBI	0.694809	0.65368	D	0.24652095923294	0.53466	3.515413	0.312930338511392	0.56300	3.793058	0.99999965391553	0.74766	0.67177	0.52595	0	0.615513	0.52658	0	0.702456	0.68683	0	0.620846	0.47308	0	.	.	5.38	5.38	0.77279	5.005000	0.63724	3.991000	0.40989	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.0:1.0:0.0	16.407	0.83509	182	0.92924	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1213.98	38	chr15	40856300	.	G	A	1213.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.81;DP=866;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.45;ReadPosRankSum=0.861;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,99,1485	20	0	1	0
chr15	40898965	40898965	G	A	exonic	VPS18	.	nonsynonymous SNV	VPS18:NM_020857:exon3:c.G292A:p.A98T,	.	.	433	1075	13	1	0	15	0.00692841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.146	B	0.03	B	0.000	D	0.693	N	0.895	L	0.91	T	-1.025	T	0.036	T	0.105	-0.008	3.972	0.693	-0.025	1.497	4.158	0.033	0.00623164188503	0.0058	0.00299521	0.0050	0.0020	0.0023	0	0.0006	0.0065	0.0011	0.0072	0.0052069	805	154602	rs140142469	0.0078	0.0078	0.0079	0.0076	0.0090	0.0076	0.0076	0.0089	0.0088	0.0014	0.0029	0.0003	2.519e-05	0.0015	0.0040	0.0090	0.0063	0.0071	0.0051	0.0051	0.0056	0.0046	0.0089	0.0048	0.0047	0.0083	0.0081	0.0018	0.0022	0.0025	0.0009	0	0.0008	0.0102	0.0089	0.0066	0.0048	0.727	0.07307	T	0.587	0.24840	T	0.146	0.27821	B	0.03	0.21741	B	0.000183	0.48115	D	0.217136	0.693044	0.33346	D	1.59	0.40313	L	0.91	0.44856	T	-0.2	0.10136	N	0.291	0.32921	-1.0248	0.22148	T	0.036	0.15465	T	10	0.0044212937	0.00090	T	0.006232	0.16347	T	0.033	0.08068	.	.	0.147330786459	0.14319	0.1759031381791382	0.17509	0.392667314243	0.40446	0.281481206417	0.07699	T	0.026705	0.19707	T	-0.581531	0.00189	T	-0.598711	0.12919	T	0.00360183427683428	0.00038	T	0.792121	0.43364	T	0.05123868	0.09380	0.051792376	0.08407	0.05123868	0.09380	0.051792376	0.08407	-3.999	0.23789	T	.	.	0.084	0.16231	B	.;.	.;.	2.002629	0.25446	16.76	0.39248831212335833	0.02697	0.81514	0.40902	D	AEFGBI	0.111242	0.22031	N	-0.693229999047474	0.16213	0.8240575	-0.623125723557837	0.18899	1.01168	0.999913371930642	0.45857	0.67177	0.52595	0	0.606735	0.50208	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.77	0.693	0.17218	1.534000	0.35656	4.879000	0.45646	0.676000	0.76740	0.968000	0.34134	1.000000	0.68203	0.855000	0.40485	0.2246:0.0:0.4997:0.2757	4.158	0.09736	188	0.92666	.;.	.	.	.	.	rs140142469	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1414.98	39	chr15	40898965	.	G	A	1414.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.260e-01;DP=801;ExcessHet=0.0000;FS=16.800;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.38;ReadPosRankSum=-2.080e-01;SOR=0.592	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1024	20	0	1	0
chr15	40902922	40902922	C	T	exonic	VPS18	.	stopgain	VPS18:NM_020857:exon5:c.C2503T:p.R835X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	.	.	.	.	0.004	N	1.000	D	.	.	.	.	.	.	.	.	.	8.458	40	2.7	0.756	2.128	9.026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs889132840	2.052e-06	2.052e-06	4.084e-06	0	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	1.313e-05	1.313e-05	2.568e-05	0	6.539e-05	2.18e-06	8.2e-07	.	.	2.411e-05	0	6.539e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.003752	0.34535	N	0.292780	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.833	0.82862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.522349	0.94964	D	0.512542	0.94890	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.528012	0.97678	38	0.99708675633141519	0.81143	0.83422	0.42540	D	AEFDGBCIJ	.	.	.	0.664910961853559	0.77336	6.655369	0.501202294351593	0.68070	5.169805	0.999995735812955	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	5.76	2.7	0.31007	2.182000	0.42186	1.907000	0.29621	0.596000	0.33519	1.000000	0.71638	0.998000	0.33993	0.998000	0.85391	0.3184:0.4416:0.24:0.0	9.026	0.35392	188	0.92666	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3700.98	34	chr15	40902922	.	C	T	3700.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=971;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.81;ReadPosRankSum=2.99;SOR=0.719	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1256	20	0	1	0
chr15	40934982	40934982	T	C	exonic	DLL4	.	nonsynonymous SNV	DLL4:NM_019074:exon8:c.T1105C:p.S369P,	Adams-Oliver syndrome 6, Autosomal dominant	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.998	D	0.948	D	0.000	D	0.999	D	1.91	M	1.31	T	-0.809	T	0.202	T	0.577	4.624	25.3	5.96	2.285	3.958	16.434	0.183	0.0233648478156	.	.	.	.	.	.	.	.	.	.	.	.	.	rs767003675	6.843e-07	2.052e-06	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.145	0.33000	T	0.998	0.73220	D	0.948	0.68536	D	0.000036	0.55875	D	0.198960	0.999457	0.47118	D	2.135	0.59519	M	1.31	0.35405	T	-2.67	0.57110	D	0.719	0.72120	-0.8088	0.54623	T	0.202	0.55905	T	10	0.66292423	0.70259	D	0.023365	0.46327	T	0.183	0.45592	0.48	0.55983	0.360112713275	0.35619	0.8813253976186521	0.88100	1.33779716334	0.83782	0.587000131607	0.51071	T	0.867269	0.97103	D	-0.0423846	0.45594	T	-0.298659	0.44867	T	0.975228250026703	0.70841	D	0.905509	0.66687	D	0.7640706	0.81694	0.7078651	0.82773	0.7640706	0.81696	0.7078651	0.82774	-9.799	0.72699	D	.	.	0.715	0.73587	P	.;.	.;.	4.760674	0.76968	26.6	0.9989403952257484	0.96742	0.89952	0.50761	D	AEFBCI	0.808896	0.73255	D	0.652761633616273	0.76550	6.506827	0.658803032760709	0.79266	7.046539	0.999998718079926	0.74766	0.460665	0.09802	0	0.588066	0.40923	0	0.59043	0.30614	0	0.636168	0.56350	0	.	.	5.96	5.96	0.96695	3.941000	0.56317	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.0:0.0:1.0	16.434	0.83709	150	0.94078	EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1575.98	35	chr15	40934982	.	T	C	1575.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.330;DP=870;ExcessHet=0.0000;FS=1.342;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=-3.350e-01;SOR=0.822	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr15	41020980	41020980	C	T	exonic	INO80	.	nonsynonymous SNV	INO80:NM_017553:exon26:c.G3194A:p.R1065Q,	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.0	B	0.0	B	0.103	N	1.000	N	0	N	-2.74	D	-0.707	T	0.409	T	0.129	1.848	12.14	3.4	1.492	0.760	8.728	0.190	0.0320346917326	.	0.000199681	4.947e-05	0	0	0.0001	0	7.497e-05	0	0	4.53e-05	7	154602	rs199698267	2.941e-05	2.941e-05	2.995e-05	2.888e-05	0.0002	2.216e-05	1.97e-05	2.201e-05	1.942e-05	0	0	0	2.519e-05	0	0.0002	3.058e-05	8.279e-05	2.319e-05	5.253e-05	5.249e-05	5.14e-05	5.371e-05	0.0001	2.556e-05	1.829e-05	4.766e-05	3.339e-05	0	0	0	0	0	9.422e-05	0	0.0001	0	0	0.29	0.14996	T	0.614	0.07592	T	0.0	0.02946	B	0.0	0.01387	B	0.103247	0.19756	N	0.559787	1	0.08975	N	0.69	0.16971	N	-2.74	0.90735	D	-0.87	0.23590	N	0.183	0.19861	-0.7073	0.60085	T	0.409	0.75803	T	10	0.033840537	0.01571	T	0.032035	0.53969	D	0.190	0.46781	.	.	0.209943299407	0.20609	0.390321408508015	0.38947	0.38442944275	0.39743	0.267783582211	0.05853	T	0.035064	0.23569	T	-0.210688	0.19282	T	-0.348733	0.39349	T	0.0473793616276286	0.05033	T	0.756024	0.37907	T	0.08358709	0.19308	0.048098378	0.07073	0.08358709	0.19308	0.048098378	0.07073	-3.681	0.19038	T	.	.	0.075	0.05447	B	.;.;.	.;.;.	1.169907	0.15598	11.97	0.97666262924770109	0.35230	0.16539	0.19436	N	AEFGBHCI	0.066567	0.13042	N	-0.848299670498168	0.12092	0.5873277	-0.700953420432228	0.16936	0.8983077	0.999999975173842	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.692231	0.68500	0	.	.	5.35	3.4	0.38031	0.796000	0.26646	0.172000	0.15530	-0.821000	0.02958	0.000000	0.06391	0.000000	0.08366	0.822000	0.38733	0.0:0.715:0.1371:0.1479	8.728	0.33641	182	0.92924	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2168.98	41	chr15	41020980	.	C	T	2168.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.803;DP=952;ExcessHet=0.0000;FS=4.875;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.46;ReadPosRankSum=0.173;SOR=1.078	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr15	41096253	41096253	G	C	exonic	INO80	.	nonsynonymous SNV	INO80:NM_017553:exon2:c.C58G:p.L20V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.993	D	0.967	D	0.000	D	1.000	D	1.7	L	-3.11	D	0.770	D	0.844	D	0.554	4.377	23.1	5.9	2.793	9.434	20.272	0.499	0.230949694038	.	.	8.341e-06	0	0	0	0	1.513e-05	0	0	6.5e-06	1	154602	rs766496543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.07	0.43721	T	0.993	0.65571	D	0.967	0.71530	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.755	0.45626	L	-3.11	0.92721	D	-0.97	0.25770	N	0.658	0.68255	0.770	0.94036	D	0.844	0.94774	D	10	0.575322	0.65547	D	0.23095	0.88253	D	0.499	0.78288	0.236	0.16608	0.661633646292	0.65880	0.5260119555163638	0.52525	0.310035681446	0.33317	0.780231118202	0.78962	T	0.05765	0.30625	T	0.170503	0.71171	D	0.00713946	0.70798	D	0.634292668284165	0.37796	D	0.927907	0.73422	D	0.27592942	0.50656	0.27308488	0.53225	0.27592942	0.50655	0.27308488	0.53224	-4.238	0.27298	T	.	.	0.140	0.33846	B	.;.;.	.;.;.	4.624555	0.73463	26.0	0.99802759949871023	0.88728	0.98127	0.79829	D	AEFDBCI	0.868620	0.78881	D	0.846005111031047	0.88879	9.747598	0.867441971670391	0.93991	12.42632	0.999999999923393	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.9	5.9	0.94952	9.602000	0.97623	11.835000	0.97647	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.272	0.98481	295	0.88218	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	252.56	57	chr15	41096253	.	G	C	252.56	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-3.708e+00;DP=1328;ExcessHet=0.6776;FS=161.759;InbreedingCoeff=-0.1234;MLEAC=4;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=0.70;ReadPosRankSum=0.522;SOR=9.149	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,22:86:99:0|1:41096253_G_C:153,0,1754:41096253	16	0	4	1
chr15	41569023	41569023	-	CCAGCAGGGCCCTCCTCACAGCCGCACATCC	splicing	TYRO3	NM_006293:exon9:c.1252+1->CCAGCAGGGCCCTCCTCACAGCCGCACATCC;NM_001330264:exon9:c.1117+1->CCAGCAGGGCCCTCCTCACAGCCGCACATCC	.	.	.	.	428	1082	12	0	0	12	0.00551471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.858e-06	2.121e-05	8.187e-06	5.515e-06	3.605e-06	3.47e-06	2.53e-06	8.4e-07	5.7e-07	0	0	7.704e-05	0	5.683e-05	0	3.605e-06	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	98.94	35	chr15	41569023	.	G	GCCAGCAGGGCCCTCCTCACAGCCGCACATCC	98.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.45;DP=973;ExcessHet=0.0000;FS=7.303;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.80;MQRankSum=-8.548e+00;QD=0.91;ReadPosRankSum=-2.930e+00;SOR=1.919	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr15	41573817	41573817	-	ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATG	splicing	TYRO3	NM_006293:exon18:c.2282+2->ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATG;NM_001330264:exon18:c.2147+2->ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATG	.	.	.	.	425	1069	16	0	12	28	0.00742804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-06	6.84e-06	8.172e-06	5.504e-06	5.398e-06	3.46e-06	2.52e-06	1.94e-06	1.28e-06	0	0	0	0	5.632e-05	0	5.398e-06	1.656e-05	0	0.0005	0.0014	0.0005	0.0005	0.0006	0.0004	0.0003	0.0004	0.0004	0.0003	0	0.0003	0.0009	0.0004	0.0009	0	0.0006	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1269.05	35	chr15	41573817	.	T	TATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATG,TATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGC	1269.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=3.38;DP=1575;ExcessHet=0.1072;FS=0.597;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=4.50;ReadPosRankSum=-8.730e-01;SOR=0.792	GT:AD:DP:GQ:PL	0/0:36,0,0:36:99:0,99,1485,99,1485,1485	19	0	1	0
chr15	41573817	41573817	-	ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGC	splicing	TYRO3	NM_006293:exon18:c.2282+2->ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGC;NM_001330264:exon18:c.2147+2->ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGC	.	.	.	.	425	1069	16	0	12	28	0.00742804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.499e-05	9.718e-05	0	0	0	0.0001	0	0	.	.	.	.	4.792e-06	6.156e-06	2.724e-06	6.88e-06	0.0002	1.99e-06	1.28e-06	7.2e-07	2e-07	0	2.241e-05	0	0	3.755e-05	0.0002	2.699e-06	0	0	0.0008	0.0025	0.0009	0.0007	0.0009	0.0007	0.0006	0.0007	0.0006	0.0006	0	0.0009	0.0012	0	0.0012	0.0034	0.0009	0.0009	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1269.05	35	chr15	41573817	.	T	TATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATG,TATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGC	1269.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=3.38;DP=1575;ExcessHet=0.1072;FS=0.597;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=4.50;ReadPosRankSum=-8.730e-01;SOR=0.792	GT:AD:DP:GQ:PL	0/0:36,0,0:36:99:0,99,1485,99,1485,1485	19	0	1	0
chr15	41696841	41696841	C	G	exonic	MGA	.	nonsynonymous SNV	MGA:NM_001080541:exon3:c.C1831G:p.P611A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.274	B	0.065	B	0.591	N	1.000	N	0.695	N	1.12	T	-0.931	T	0.093	T	0.251	0.895	8.636	2.32	0.172	-0.075	15.375	0.066	0.00976687293165	.	.	.	.	.	.	.	.	.	.	.	.	.	rs982272047	1.52e-05	1.505e-05	9.606e-06	2.088e-05	0.0003	9.95e-06	8.5e-06	6.101e-05	2.525e-05	0	2.394e-05	0	0	0	0.0003	1.358e-05	6.674e-05	0	1.316e-05	1.314e-05	2.572e-05	0	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.002	0.72154	D	0.342	0.40110	T	.	.	.	.	.	.	0.590640	0.05590	N	1.180690	1	0.08975	N	1.995	0.54099	M	1.12	0.38718	T	-3.85	0.72353	D	0.283	0.32701	-0.9313	0.43948	T	0.093	0.35336	T	10	0.090085536	0.15664	T	0.009767	0.25495	T	0.066	0.19193	0.183	0.09131	0.102598925029	0.09809	0.19665192826293576	0.19582	0.0918249006289	0.10363	0.257526487112	0.04601	T	0.176339	0.52624	T	-0.146454	0.28869	T	-0.448148	0.27902	T	0.306380420923233	0.25265	T	0.772023	0.40277	T	.	.	.	.	.	.	.	.	-5.314	0.40081	T	.	.	0.068	0.02702	B	.;.;.;.;.;.	.;.;.;.;.;.	1.270261	0.16691	12.70	0.93486399034606837	0.23286	0.12801	0.17488	N	AEFBI	0.072604	0.14496	N	-0.721962192372811	0.15406	0.7760847	-0.706377475019728	0.16802	0.8905389	0.999660521991418	0.41534	0.719381	0.83141	0	0.653731	0.59785	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.45	2.32	0.27895	-0.057000	0.11726	0.383000	0.17802	0.599000	0.40250	0.004000	0.16614	0.019000	0.20708	0.942000	0.48361	0.6515:0.3485:0.0:0.0	15.375	0.74312	127	0.94899	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	979.98	37	chr15	41696841	.	C	G	979.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.64;DP=865;ExcessHet=0.0000;FS=7.063;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=-1.881e+00;SOR=1.211	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1125	20	0	1	0
chr15	41762355	41762355	G	T	exonic	MGA	.	nonsynonymous SNV	MGA:NM_001080541:exon21:c.G7110T:p.Q2370H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.01	B	0.018	B	0.019	N	0.931	N	0.695	N	-1.9	D	-0.716	T	0.365	T	0.388	3.041	16.15	3.31	0.489	1.155	9.252	0.203	0.0136089983046	.	.	1.665e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs758420841	2.054e-06	2.052e-06	2.725e-06	1.376e-06	8.976e-05	5.5e-07	1.5e-07	2.378e-05	1.259e-05	8.976e-05	0	0	0	0	0	0	0	0	1.319e-05	1.316e-05	1.288e-05	1.351e-05	4.848e-05	2.19e-06	8.2e-07	8.03e-06	3.01e-06	4.848e-05	0	0	0	0	0	0	0	0	0	0.429	0.19927	T	0.156	0.31833	T	.	.	.	.	.	.	0.018919	0.27374	N	0.257159	0.998371	0.27057	N	.	.	.	-1.92	0.84773	D	-0.86	0.30964	N	0.349	0.39052	-0.7164	0.59639	T	0.365	0.72575	T	10	0.082978725	0.13754	T	0.013609	0.33144	T	0.203	0.48915	0.132	0.03662	0.346610688518	0.34274	0.39884212591391127	0.39799	0.0905393262645	0.10218	0.320774972439	0.13539	T	.	.	.	-0.1395	0.29970	T	-0.20149	0.54505	T	0.0966436724191155	0.11983	T	0.786121	0.42437	T	.	.	.	.	.	.	.	.	-4.31	0.28316	T	.	.	0.193	0.41341	B	.;.;.;.	.;.;.;.	2.149581	0.27382	17.44	0.99374148452593392	0.61585	0.81426	0.40832	D	AEFBI	0.082493	0.16703	N	-0.310011733424603	0.28766	1.589473	-0.127377487881067	0.34290	1.970847	0.132434071256768	0.17117	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.16	3.31	0.37025	1.192000	0.31759	3.080000	0.36236	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1008:0.0:0.7446:0.1546	9.252	0.36720	129	0.94817	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	736.98	39	chr15	41762355	.	G	T	736.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.209;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=0.197;SOR=0.602	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1247	20	0	1	0
chr15	41818074	41818074	C	T	exonic	MAPKBP1	.	nonsynonymous SNV	MAPKBP1:NM_001265611:exon17:c.C1970T:p.T657I	Nephronophthisis 20, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	739607	MAPKBP1-related_disorder|Nephronophthisis_20|not_provided	.|MONDO:MONDO:0014997,MedGen:C4310640,OMIM:617271|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.992	D	0.000	D	1.000	D	1.67	L	1.56	T	-0.656	T	0.243	T	0.793	4.785	26.9	5.51	2.574	5.886	19.409	0.361	0.0575422703992	0.0012	0.000399361	0.0003	0.0037	8.639e-05	0	0	0	0	0	0.0002652	41	154602	rs139165608	0.0001	0.0001	0.0002	0.0001	0.0051	0.0001	0.0001	0.0045	0.0042	0.0051	0.0003	0	0	0	0.0002	1.799e-06	0.0003	2.319e-05	0.0011	0.0011	0.0010	0.0012	0.0037	0.0010	0.0009	0.0032	0.0030	0.0037	0	0.0009	0	0	0	0	0	0.0009	0	0.001	0.78490	D	0.004	0.74150	D	0.994	0.73220	D	0.963	0.70837	D	0.000000	0.84330	D	0.045170	0.999999	0.58761	D	2.3	0.65703	M	1.56	0.40749	T	-4.08	0.74742	D	0.599	0.62188	-0.6565	0.62430	T	0.243	0.61189	T	10	0.017060488	0.00362	T	0.057542	0.67003	D	0.361	0.68141	.	.	0.327401308167	0.32341	0.7842984482825909	0.78380	1.14559421498	0.79068	0.847851872444	0.89290	D	0.186215	0.53944	T	-0.207019	0.19802	T	-0.070016	0.65625	T	0.0494991257882125	0.05412	T	0.825317	0.48765	T	0.5288976	0.68767	0.4658815	0.69006	0.5288976	0.68768	0.4658815	0.69006	-9.71	0.73021	D	.	.	0.817	0.81728	P	.;.;.	.;.;.	4.028699	0.59562	24.1	0.99890910196642346	0.96513	0.99475	0.96487	D	AEFGBI	0.765778	0.70215	D	0.672221916768434	0.77813	6.747492	0.662326128966952	0.79531	7.102277	0.999999999998825	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	6.004000	0.70371	7.699000	0.66186	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.882000	0.42233	0.0:1.0:0.0:0.0	19.409	0.94653	216	0.91608	.;WD40-repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1389.98	35	chr15	41818074	.	C	T	1389.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.670e-01;DP=848;ExcessHet=0.0000;FS=0.776;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.49;ReadPosRankSum=-1.309e+00;SOR=0.818	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1301	20	0	1	0
chr15	41818902	41818902	C	T	exonic	MAPKBP1	.	nonsynonymous SNV	MAPKBP1:NM_001265611:exon20:c.C2236T:p.R746W	Nephronophthisis 20, Autosomal recessive	.	431	1045	44	2	0	48	0.0224509	.	.	714428	Nephronophthisis_20|not_provided	MONDO:MONDO:0014997,MedGen:C4310640,OMIM:617271|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.021	B	0.01	B	0.048	N	0.663	N	0.345	N	1.22	T	-1.014	T	0.066	T	0.343	2.648	14.81	4.23	1.403	1.659	11.962	0.107	.	0.0005	0.00319489	0.0031	0.0003	0.0007	0.0002	0	0.0009	0.0055	0.0177	0.0026649	412	154602	rs61729964	0.0015	0.0015	0.0010	0.0020	0.0166	0.0015	0.0015	0.0159	0.0156	0.0001	0.0006	0.0001	0.0001	5.619e-05	0.0090	0.0005	0.0018	0.0166	0.0010	0.0010	0.0008	0.0012	0.0158	0.0009	0.0008	0.0129	0.0119	4.81e-05	0	0.0008	0	0	0	0.0068	0.0008	0.0009	0.0158	0.021	0.49117	D	0.077	0.45530	T	0.021	0.18474	B	0.01	0.14941	B	0.048196	0.23275	N	0.333669	0.663262	0.30430	N	1.5	0.37844	L	1.07	0.39586	T	-3.01	0.62518	D	0.403	0.46742	-1.0138	0.25720	T	0.066	0.27364	T	10	0.005826086	0.00130	T	.	.	.	0.107	0.30369	.	.	0.184605227958	0.18053	0.4446293006906201	0.44380	0.768764430126	0.64661	0.371921271086	0.21108	T	0.137811	0.47096	T	-0.454713	0.01059	T	-0.412966	0.31884	T	0.0387262621537389	0.03461	T	0.849515	0.53247	T	0.086063445	0.19991	0.094566636	0.22389	0.088173196	0.20559	0.08228859	0.18767	-8.594	0.65049	D	.	.	0.149	0.32898	B	.;.;.	.;.;.	2.994304	0.39986	21.1	0.99809025248273031	0.89264	0.96210	0.68040	D	AEFGBI	0.497589	0.53205	N	-0.545389096938561	0.20628	1.088857	-0.387247725204634	0.25376	1.395155	0.969351297903443	0.29122	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.14	4.23	0.49319	2.484000	0.44900	2.215000	0.31401	-0.190000	0.09434	1.000000	0.71638	1.000000	0.68203	0.247000	0.23184	0.0:0.919:0.0:0.081	11.962	0.52303	214	0.91692	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1993.98	35	chr15	41818902	.	C	T	1993.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.08;DP=952;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.92;ReadPosRankSum=0.200;SOR=0.673	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1301	20	0	1	0
chr15	41823501	41823501	A	G	exonic	MAPKBP1	.	nonsynonymous SNV	MAPKBP1:NM_014994:exon29:c.A3653G:p.E1218G	Nephronophthisis 20, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.001	B	0.004	B	0.381	N	1.000	N	0.805	L	1.3	T	-1.040	T	0.064	T	0.081	3.423	17.57	3.06	0.932	2.515	6.044	0.057	0.0114463835235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.14064	T	0.275	0.22016	T	0.001	0.07471	B	0.0	0.01387	B	0.380790	0.13392	N	0.735360	0.999887	0.50402	D	1.1	0.28011	L	1.14	0.38397	T	-0.74	0.20791	N	0.182	0.19728	-1.0401	0.17283	T	0.064	0.26456	T	10	0.0879035	0.15086	T	0.011446	0.29087	T	0.057	0.16321	0.211	0.12923	0.0675242888579	0.06100	0.3021631981608067	0.30129	0.0693150109517	0.07761	0.441450595856	0.30776	T	0.006999	0.06422	T	-0.255191	0.13469	T	-0.604341	0.12449	T	0.0839394678263173	0.10484	T	0.59944	0.22338	T	0.047109675	0.07998	0.0362119	0.03024	0.047109675	0.07997	0.0362119	0.03024	-2.306	0.04588	T	.	.	0.089	0.12228	B	.;.	.;.	2.041770	0.25950	16.95	0.99597600979618583	0.73983	0.87048	0.46473	D	AEFGBHCI	0.173759	0.30086	N	-0.627257661738905	0.18129	0.9387149	-0.5475626871233	0.20871	1.126439	0.941621661817123	0.27485	0.743674	0.98306	0	0.724815	0.89359	0	0.630245	0.45026	0	0.714379	0.83352	0	.	.	5.5	3.06	0.34374	1.581000	0.36167	4.452000	0.43426	0.689000	0.82905	0.476000	0.26769	0.999000	0.35428	0.021000	0.11733	0.751:0.1638:0.0851:0.0	6.044	0.18976	218	0.91525	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2769.98	34	chr15	41823501	.	A	G	2769.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.781e+00;DP=950;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=-1.031e+00;SOR=0.733	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1525	20	0	1	0
chr15	41851129	41851129	G	C	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon65:c.C10765G:p.L3589V,	.	.	393	1126	3	0	0	3	0.00133038	.	.	3478118	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.941	P	0.531	P	0.169	N	1.000	N	0.98	L	1.55	T	-1.072	T	0.062	T	0.142	2.368	13.88	2.29	0.523	-0.310	6.390	0.045	0.00852296438686	0.0002	0.000998403	0.0005	0.0001	0.0003	0	0	0.0008	0	0.0001	0.0004786	74	154602	rs149420099	0.0004	0.0004	0.0004	0.0004	0.0040	0.0004	0.0004	0.0027	0.0023	0.0001	0.0004	7.658e-05	0	0	0.0040	0.0005	0.0007	0.0001	0.0005	0.0005	0.0005	0.0004	0.0018	0.0004	0.0003	0.0013	0.0011	0.0002	0	0.0018	0.0003	0	0	0	0.0005	0.0009	0	0.027	0.46513	D	0.0	0.92824	D	0.941	0.52883	P	0.531	0.48577	P	0.168609	0.17442	N	0.449092	1	0.08975	N	1.27	0.32069	L	1.55	0.29866	T	-0.63	0.18459	N	0.241	0.27197	-1.0724	0.08894	T	0.062	0.25923	T	10	0.023934871	0.00642	T	0.008523	0.22532	T	0.045	0.12272	.	.	0.312001716656	0.30816	0.045485878313686154	0.04492	.	.	0.236076787114	0.02447	T	0.008646	0.07927	T	-0.51118	0.00494	T	-0.615673	0.11528	T	0.00910435805802616	0.00114	T	0.389261	0.09643	T	0.059058487	0.11956	0.06172671	0.11965	0.059058487	0.11956	0.06172671	0.11964	-4.68	0.33161	T	.	.	0.105	0.19154	B	.	.	0.305360	0.06806	3.331	0.98420853581464918	0.41288	0.10864	0.16245	N	AEFDBCI	0.065794	0.12852	N	-0.325362545650303	0.28187	1.552696	-0.448961226215469	0.23578	1.28656	0.999472089030329	0.39898	0.67177	0.52595	0	0.550933	0.16991	0	0.536957	0.11973	0	0.711	0.71501	0	.	.	4.22	2.29	0.27658	-0.104000	0.10893	-0.313000	0.10024	0.675000	0.71128	0.001000	0.13787	0.000000	0.08366	0.006000	0.07323	0.0961:0.0:0.7231:0.1808	6.390	0.20782	234	0.90879	Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1694.98	104	chr15	41851129	.	G	C	1694.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.760e-01;DP=2142;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.92;ReadPosRankSum=1.77;SOR=0.676	GT:AD:DP:GQ:PL	0/0:105,0:105:99:0,120,1800	20	0	1	0
chr15	41854070	41854070	G	A	exonic	SPTBN5	.	stopgain	SPTBN5:NM_016642:exon57:c.C9754T:p.Q3252X,	.	.	389	1130	3	0	0	3	0.00132567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	.	.	.	.	0.111	N	1.000	A	.	.	.	.	.	.	.	.	.	18.225	51	3.32	0.979	0.250	10.839	.	.	.	.	0.0004	0	0	0	0	0.0002	0	0.0011	0.0001164	18	154602	rs199808107	6.754e-05	6.909e-05	6.412e-05	7.103e-05	0.0012	5.651e-05	5.252e-05	0.0006	0.0004	0	0	0	0	0	0.0012	4.661e-05	0.0002	0.0004	3.942e-05	3.94e-05	3.853e-05	4.034e-05	7.349e-05	1.715e-05	1.129e-05	2.846e-05	1.858e-05	2.412e-05	0	0	0	0	0	0	7.349e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.110506	0.19439	N	0.417155	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.07	0.04307	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273808	0.80779	D	0.466048	0.93926	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.377382	0.97492	37	0.99030507797122369	0.50786	0.39387	0.26202	N	AEFDBCI	0.147671	0.27140	N	0.218935887555586	0.52116	3.387989	-0.0846464047972341	0.36024	2.091274	0.992740422742521	0.32953	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.25	3.32	0.37134	0.824000	0.27034	3.908000	0.40392	0.612000	0.49041	0.006000	0.17386	0.998000	0.33993	0.430000	0.27449	0.0:0.0:0.4648:0.5352	10.839	0.45911	221	0.91431	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	754.98	51	chr15	41854070	.	G	A	754.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.152e+00;DP=737;ExcessHet=0.0000;FS=2.571;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.80;ReadPosRankSum=-9.070e-01;SOR=0.343	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1168	20	0	1	0
chr15	41862626	41862626	C	A	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon43:c.G7298T:p.R2433I,	.	.	409	1112	1	0	0	1	0.000449438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.863	P	0.541	P	0.596	N	1.000	N	1.025	L	0.7	T	-0.987	T	0.124	T	0.274	1.289	10.21	0.86	-0.103	0.266	5.773	0.081	0.0631871251756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.116e-07	4.788e-06	1.407e-06	0	1.249e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.249e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.006	0.70582	D	0.863	0.47474	P	0.541	0.48869	P	0.595652	0.05616	N	1.231370	1	0.08975	N	1.345	0.33447	L	0.7	0.51474	T	-5.1	0.83027	D	0.359	0.40063	-0.9867	0.33420	T	0.124	0.42862	T	10	0.30545264	0.48063	T	0.063187	0.68888	D	0.081	0.23632	0.542	0.65446	0.723075696567	0.72062	0.0908083495324307	0.09013	.	.	0.33579647541	0.15808	T	0.09768	0.40075	T	-0.181744	0.23478	T	-0.498839	0.22468	T	0.942724525928497	0.61719	D	0.663934	0.27277	T	0.25370884	0.48394	0.35221165	0.60803	0.25370884	0.48394	0.35221165	0.60802	-5.994	0.46229	T	.	.	0.133	0.28807	B	.	.	1.828495	0.23235	15.94	0.96179701733220413	0.28957	0.07552	0.13565	N	AEFDBI	0.080005	0.16169	N	-0.481457994346437	0.22689	1.213272	-0.637887630589222	0.18523	0.989879	0.956279304497263	0.28238	0.608966	0.35542	0	0.59043	0.45803	0	0.769059	0.98459	0	0.635551	0.53088	0	.	.	5.1	0.86	0.18179	0.002000	0.12962	0.033000	0.13759	0.531000	0.24825	0.000000	0.06391	0.001000	0.17328	0.127000	0.19450	0.0:0.5269:0.2994:0.1737	5.773	0.17529	196	0.92420	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	971.98	33	chr15	41862626	.	C	A	971.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.979e+00;DP=807;ExcessHet=0.0000;FS=0.960;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.95;ReadPosRankSum=0.039;SOR=0.507	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr15	41869906	41869906	G	A	exonic	SPTBN5	.	stopgain	SPTBN5:NM_016642:exon32:c.C5788T:p.R1930X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	.	.	.	.	0.735	N	1.000	A	.	.	.	.	.	.	.	.	.	10.671	44	1.74	0.086	-0.012	4.286	.	.	.	.	3.355e-05	0	0	0	0	6.575e-05	0	0	1.29e-05	2	154602	rs771424817	3.577e-05	4.652e-05	3.247e-05	3.917e-05	3.975e-05	2.752e-05	2.483e-05	2.994e-05	2.661e-05	0	2.73e-05	0	0	0	0	3.975e-05	6.93e-05	2.506e-05	6.569e-05	6.566e-05	7.706e-05	5.379e-05	0.0001	3.516e-05	2.615e-05	6.803e-05	5.087e-05	2.412e-05	0	0	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.734746	0.09825	N	0.858517	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.19	0.20793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205319	0.74389	D	0.251459	0.85690	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.378814	0.95112	34	0.99123019540656121	0.53037	0.02017	0.06061	N	AEFDGBI	0.042099	0.06488	N	0.0248349423591004	0.42985	2.600536	-0.334283832393814	0.26999	1.495169	0.999741869904498	0.42466	0.562547	0.31514	0	0.610034	0.51514	0	0.578056	0.29568	0	0.635551	0.53088	0	.	.	4.7	1.74	0.23636	-0.019000	0.12487	1.555000	0.27319	0.675000	0.71128	0.000000	0.06391	0.287000	0.24143	0.017000	0.10941	0.2834:0.1697:0.5468:0.0	4.286	0.10302	197	0.92378	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2315.98	36	chr15	41869906	.	G	A	2315.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.720e-01;DP=857;ExcessHet=0.0000;FS=1.241;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=-8.310e-01;SOR=0.590	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1221	20	0	1	0
chr15	41873494	41873494	G	C	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon26:c.C5005G:p.Q1669E,	.	.	414	1107	1	0	0	1	0.000451467	0.0021	0.128	.	.	.	.	.	.	.	.	.	.	.	.	.	0.97	T	0.092	B	0.148	B	0.021	N	1.000	N	0.47	N	1.39	T	-0.999	T	0.039	T	0.091	0.830	8.346	0.206	0.200	0.532	3.824	0.050	0.00569868818485	0.0002	.	0.0011	0.0004	0	0	0	0.0003	0	0.0027	0.0001682	26	154602	rs201291451	0.0002	0.0002	0.0001	0.0002	0.0012	0.0002	0.0002	0.0010	0.0009	6.335e-05	2.802e-05	0	0	0	0.0002	0.0002	1.725e-05	0.0012	0.0001	0.0001	0.0001	0.0001	0.0008	8.172e-05	6.728e-05	0.0003	0.0002	9.66e-05	0	0	0	0	0	0	0.0002	0	0.0008	0.281	0.15458	T	0.073	0.43159	T	0.092	0.25296	B	0.148	0.34065	B	0.020876	0.26948	N	0.344525	0.999987	0.18198	N	1.545	0.39105	L	1.39	0.33842	T	-1.29	0.32387	N	0.128	0.12198	-0.9992	0.30143	T	0.039	0.16806	T	10	0.013426214	0.00285	T	0.005699	0.14772	T	0.050	0.13987	.	.	0.334659703779	0.33074	0.03990688797673841	0.03936	.	.	0.290439337492	0.08986	T	0.007521	0.06921	T	-0.579799	0.00193	T	-0.640996	0.09596	T	0.0269021259871879	0.01530	T	0.394361	0.09853	T	0.096592784	0.22754	0.08057611	0.18238	0.096592784	0.22754	0.08057611	0.18237	-5.881	0.45273	T	.	.	0.083	0.09143	B	.	.	1.541065	0.19760	14.42	0.85416701021823593	0.15879	0.77143	0.37898	D	AEFDGBI	0.214267	0.33975	N	-0.819003885154086	0.12825	0.627681	-0.69635526793761	0.17051	0.9049238	0.633519053938771	0.21989	0.562547	0.31514	0	0.610034	0.51514	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	4.71	0.206	0.14485	0.448000	0.21443	2.144000	0.30864	-0.130000	0.13190	1.000000	0.71638	1.000000	0.68203	0.790000	0.37311	0.0854:0.1214:0.2753:0.518	3.824	0.08362	197	0.92378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	633.98	33	chr15	41873494	.	G	C	633.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.685e+00;DP=775;ExcessHet=0.0000;FS=2.968;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.29;ReadPosRankSum=0.670;SOR=0.432	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1238	20	0	1	0
chr15	41876136	41876136	C	G	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon21:c.G4100C:p.R1367T,	.	.	414	1104	4	0	0	4	0.00180832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.468	P	0.158	B	0.582	N	1.000	N	1.245	L	1.39	T	-1.056	T	0.022	T	0.144	1.497	10.96	-0.663	-0.028	0.209	2.736	0.058	.	0.0002	0.00459265	0.0027	0	0.0002	0.0344	0.0014	0.0003	0.0011	0.0001	0.0023544	364	154602	rs2290558	0.0009	0.0009	0.0009	0.0009	0.0242	0.0009	0.0008	0.0229	0.0224	0	0.0002	0.0010	0.0242	0.0016	0	0.0001	0.0012	6.958e-05	0.0013	0.0013	0.0011	0.0016	0.0276	0.0012	0.0011	0.0239	0.0225	0	0	0.0004	0.0006	0.0276	0.0023	0	0.0003	0.0009	0	0.531	0.07002	T	0.027	0.55341	D	0.468	0.36503	P	0.158	0.34617	B	0.581528	0.05538	N	1.240090	1	0.08975	N	1.39	0.34934	L	1.39	0.33842	T	-1.2	0.30555	N	0.211	0.23506	-1.0564	0.12672	T	0.022	0.09193	T	10	0.004202634	0.00084	T	.	.	.	0.058	0.16647	.	.	0.477451190609	0.47374	0.07632805171012425	0.07568	.	.	0.283500254154	0.07986	T	0.005084	0.04516	T	-0.598671	0.00148	T	-0.604157	0.12463	T	0.0101630387943461	0.00137	T	0.530647	0.17608	T	0.09197323	0.21566	0.051773738	0.08400	0.09197323	0.21566	0.051773738	0.08399	-4.093	0.25187	T	.	.	0.102	0.18206	B	.	.	0.727063	0.10963	7.626	0.61798167087445977	0.06800	0.04545	0.10182	N	AEFDGBI	0.092980	0.18818	N	-0.817586577442208	0.12861	0.629687	-0.91734122471519	0.11685	0.5968222	0.668459692553681	0.22348	0.646311	0.45356	0	0.541168	0.11318	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.24	-0.663	0.10837	0.569000	0.23342	0.516000	0.19122	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.004000	0.06068	0.1091:0.3911:0.1179:0.3818	2.736	0.04916	198	0.92335	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	582.98	40	chr15	41876136	.	C	G	582.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=742;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.57;ReadPosRankSum=0.068;SOR=0.627	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1325	20	0	1	0
chr15	41876857	41876857	C	T	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon19:c.G3803A:p.R1268Q,	.	.	414	1082	25	1	0	27	0.0123231	.	.	2817469	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.57	T	0.017	B	0.004	B	0.013	N	1.000	N	0.06	N	0.82	T	-1.055	T	0.057	T	0.081	0.625	7.360	-8.99	-2.178	-1.772	9.086	0.008	0.00343847802671	0.0002	0.000798722	0.0006	0	8.82e-05	0	0.0005	0.0003	0	0.0025	0.0004981	77	154602	rs200671932	0.0005	0.0005	0.0004	0.0005	0.0039	0.0004	0.0004	0.0025	0.0022	2.991e-05	0.0003	0	2.519e-05	0.0006	0.0039	0.0003	0.0006	0.0026	0.0004	0.0004	0.0003	0.0004	0.0029	0.0003	0.0003	0.0018	0.0014	2.407e-05	0	0.0003	0	0	0.0005	0	0.0005	0.0005	0.0029	0.884	0.02519	T	0.765	0.04555	T	0.017	0.17573	B	0.004	0.10090	B	0.012587	0.01340	N	2.832730	1	0.08975	N	-0.375	0.03072	N	0.82	0.48142	T	-0.21	0.10308	N	0.112	0.09914	-1.0554	0.12934	T	0.057	0.23791	T	10	0.0044973195	0.00092	T	0.003438	0.07755	T	0.008	0.00669	.	.	0.219573609325	0.21563	0.028452692351537162	0.02795	.	.	0.232128739357	0.02129	T	0.003112	0.02515	T	-0.671936	0.00054	T	-0.744133	0.03719	T	0.0114847941959444	0.00173	T	0.408059	0.10511	T	0.016384378	0.00194	0.03111528	0.01657	0.016384378	0.00194	0.03111528	0.01657	-2.421	0.05263	T	.	.	0.069	0.03093	B	.	.	-0.850059	0.01012	0.042	0.71696171266721898	0.09717	0.00244	0.01352	N	AEFDGBI	0.032487	0.03680	N	-1.75668500971303	0.00660	0.02847344	-1.85507503699696	0.00598	0.02658657	0.999999934710636	0.74766	0.562547	0.31514	0	0.59043	0.45803	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	4.49	-8.99	0.00644	-1.859000	0.01749	-9.919000	0.00760	-0.780000	0.03343	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5362:0.2086:0.2552	9.086	0.35743	200	0.92234	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1298.98	35	chr15	41876857	.	C	T	1298.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.969;DP=922;ExcessHet=0.0000;FS=0.762;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.67;ReadPosRankSum=-2.020e-01;SOR=0.787	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1575	20	0	1	0
chr15	41892953	41892953	G	A	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon3:c.C325T:p.R109C,	.	.	425	1051	42	4	0	50	0.0232342	.	.	703181	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.976	D	0.022	N	0.780	N	2.725	M	-3.64	D	0.588	D	0.852	D	0.577	3.240	16.86	4.23	1.177	1.401	7.083	0.518	.	0.0047	0.00519169	0.0067	0.0008	0.0023	0.0001	0.0109	0.0055	0.0115	0.0190	0.0059896	926	154602	rs62002144	0.0059	0.0059	0.0054	0.0065	0.0194	0.0058	0.0058	0.0187	0.0184	0.0009	0.0018	0.0069	0.0001	0.0098	0.0123	0.0052	0.0054	0.0194	0.0045	0.0045	0.0042	0.0049	0.0168	0.0042	0.0041	0.0138	0.0127	0.0008	0	0.0010	0.0084	0.0002	0.0130	0.0068	0.0056	0.0033	0.0168	0.012	0.54683	D	0.0	0.92824	D	1.0	0.90584	D	0.976	0.73562	D	0.022126	0.26695	N	0.254865	0.780432	0.29339	N	2.725	0.79712	M	-3.64	0.95145	D	-6.07	0.89871	D	0.402	0.44283	0.588	0.91738	D	0.852	0.95059	D	10	0.01108104	0.00244	T	.	.	.	0.518	0.79461	.	.	0.909062185264	0.90815	0.3414786615204494	0.34060	.	.	0.387197256088	0.23273	T	0.715572	0.91920	D	-0.151643	0.28054	T	0.0236792	0.71869	D	0.0439313884945464	0.04408	T	0.805019	0.45286	T	0.15299022	0.34701	0.18223727	0.41137	0.15299022	0.34701	0.18223727	0.41137	-7.991	0.61009	D	.	.	0.105	0.19438	B	.	.	4.133912	0.61886	24.4	0.99926306310736157	0.99103	0.63426	0.32086	D	AEFDGBCI	0.172957	0.30001	N	0.465640810230071	0.65096	4.779666	0.353059705884213	0.58690	4.041311	0.999998565111531	0.74766	0.580535	0.33130	0	0.626922	0.53725	0	0.578056	0.29568	0	0.664235	0.64389	0	.	.	5.15	4.23	0.49319	1.457000	0.34822	5.313000	0.48269	0.676000	0.76740	0.802000	0.29747	1.000000	0.68203	0.271000	0.23793	0.0854:0.0:0.6319:0.2827	7.083	0.24420	151	0.94052	Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1621.11	40	chr15	41892953	.	G	A	1621.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.71;DP=816;ExcessHet=0.1072;FS=0.658;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=0.319;SOR=0.794	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1057	19	0	2	0
chr15	41999528	41999528	G	A	exonic	PLA2G4E	.	nonsynonymous SNV	PLA2G4E:NM_001206670:exon10:c.C970T:p.P324S,	.	.	431	1077	13	1	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	T	0.0	B	0.002	B	0.737	U	0.999	N	0.2	N	5.06	T	-0.917	T	0.003	T	0.12	-0.304	2.552	1.64	0.123	0.346	6.101	0.019	.	0.0010	0.00239617	0.0018	0.0006	0.0002	0	0	0.0013	0	0.0075	0.0015588	241	154602	rs199592236	0.0014	0.0014	0.0013	0.0016	0.0081	0.0014	0.0014	0.0076	0.0074	0.0003	0.0003	0.0009	0	7.492e-05	0.0054	0.0011	0.0013	0.0081	0.0009	0.0009	0.0009	0.0010	0.0104	0.0008	0.0007	0.0081	0.0073	0.0002	0	0.0001	0.0009	0	0.0002	0	0.0010	0.0009	0.0104	0.727	0.03846	T	0.721	0.05327	T	.	.	.	.	.	.	0.737017	0.06405	U	1.191370	0.998502	0.22111	N	.	.	.	5.06	0.01260	T	0.38	0.03579	N	0.17	0.18103	-0.9171	0.45945	T	0.003	0.01026	T	10	0.006403029	0.00145	T	.	.	.	0.019	0.03383	.	.	0.0884992946249	0.08302	0.2160321391707353	0.21519	0.144424200517	0.16313	0.294196277857	0.09538	T	.	.	.	-0.665137	0.00059	T	-0.724195	0.04596	T	0.00342355871518212	0.00036	T	0.366163	0.08539	T	0.026095727	0.01624	0.040079515	0.04250	0.026095727	0.01624	0.040079515	0.04249	-1.594	0.01968	T	.	.	0.075	0.05668	B	.	.	0.626142	0.09948	6.703	0.77812483497194751	0.12032	0.37367	0.25745	N	AEFDGBI	0.128262	0.24597	N	-0.891761286924115	0.11037	0.5305339	-0.729135089223933	0.16237	0.8579876	0.235967472898069	0.18518	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.73	1.64	0.22949	0.252000	0.18046	1.608000	0.27620	-0.669000	0.04307	0.750000	0.29133	0.925000	0.28409	0.897000	0.43391	0.0:0.3552:0.3522:0.2926	6.101	0.19268	63	0.97314	Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	786.98	33	chr15	41999528	.	G	A	786.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.117e+00;DP=752;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.11;ReadPosRankSum=-6.430e-01;SOR=0.752	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1011	20	0	1	0
chr15	42071859	42071859	G	C	exonic	PLA2G4D	.	nonsynonymous SNV	PLA2G4D:NM_178034:exon15:c.C1488G:p.F496L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	0.552	N	2.98	M	1.78	T	-0.748	T	0.165	T	0.847	3.566	18.18	-2.47	-0.966	0.277	11.923	0.337	0.0189499202815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.02	0.58613	D	1.0	0.90584	D	0.999	0.92359	D	0.000068	0.52346	D	0.074327	0.551672	0.31329	N	3.625	0.93960	H	1.78	0.25678	T	-4.91	0.81595	D	0.879	0.87699	-0.7478	0.58050	T	0.165	0.50225	T	10	0.9628676	0.95720	D	0.01895	0.41175	T	0.337	0.65913	0.829	0.93915	0.467839254973	0.46411	0.8474293871616997	0.84703	0.310891961663	0.33396	0.571959137917	0.48955	T	0.16752	0.51418	T	0.141174	0.68435	D	-0.0349897	0.68036	D	0.991437375545502	0.81729	D	0.910709	0.68343	D	0.9609164	0.97373	0.8388199	0.90761	0.9609164	0.97373	0.8388199	0.90761	-6.818	0.52693	T	.	.	0.864	0.80534	P	.	.	2.039069	0.25915	16.93	0.99630485932681878	0.76020	0.63886	0.32230	D	AEFDBI	0.110592	0.21926	N	0.0275467151348708	0.43110	2.610448	-0.220466815582195	0.30802	1.737545	0.974168191434605	0.29518	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.79	-2.47	0.06070	-0.278000	0.08523	-0.049000	0.12570	-0.106000	0.15538	0.003000	0.16062	0.000000	0.08366	0.826000	0.38927	0.4255:0.0:0.5745:0.0	11.923	0.52087	64	0.97283	Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	800.98	36	chr15	42071859	.	G	C	800.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.177e+00;DP=818;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.90;ReadPosRankSum=-9.100e-01;SOR=0.619	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1283	20	0	1	0
chr15	42072303	42072303	C	G	exonic	PLA2G4D	.	nonsynonymous SNV	PLA2G4D:NM_178034:exon14:c.G1407C:p.E469D,	.	.	414	1099	8	1	0	10	0.00452899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.834	P	0.492	P	0.000	D	0.780	N	1.31	L	3.68	T	-1.092	T	0.010	T	0.342	1.587	11.26	4.25	1.138	-0.165	5.063	0.075	.	0.0035	0.00219649	0.0039	0.0008	0.0021	0	0.0036	0.0051	0.0111	0.0043	0.0039909	617	154602	rs143657689	0.0053	0.0053	0.0054	0.0052	0.0061	0.0052	0.0052	0.0060	0.0059	0.0010	0.0017	0.0006	2.519e-05	0.0035	0.0016	0.0061	0.0054	0.0042	0.0034	0.0034	0.0036	0.0033	0.0058	0.0032	0.0031	0.0053	0.0052	0.0011	0	0.0020	0.0006	0	0.0028	0	0.0058	0.0024	0.0031	0.7	0.04175	T	0.845	0.03558	T	0.834	0.46206	P	0.492	0.47401	P	0.000460	0.44317	D	0.150849	0.780022	0.29343	N	1.795	0.47270	L	3.68	0.04151	T	0.42	0.03352	N	0.164	0.17278	-1.0917	0.05254	T	0.010	0.03492	T	10	0.0041039586	0.00081	T	.	.	.	0.075	0.21907	0.498	0.58835	0.518147779662	0.51458	0.43912008818529796	0.43829	0.0524052570949	0.05771	0.393425792456	0.24151	T	5.83E-4	0.00238	T	-0.516639	0.00460	T	-0.511864	0.21123	T	0.0465651428282101	0.04886	T	0.343166	0.07474	T	0.2551345	0.48546	0.12471271	0.30058	0.2551345	0.48546	0.12471271	0.30057	-5.597	0.42765	T	.	.	0.125	0.26514	B	.	.	2.032238	0.25831	16.90	0.98996539306679754	0.50065	0.44866	0.27412	N	AEFBI	0.170656	0.29757	N	-0.0336555892570521	0.40334	2.393632	0.0109954941582308	0.40225	2.397202	0.974574497990113	0.29555	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.2	4.25	0.49658	-0.472000	0.06702	0.089000	0.14491	0.599000	0.40250	0.006000	0.17386	0.007000	0.19602	0.990000	0.65344	0.1533:0.619:0.1481:0.0796	5.063	0.13906	65	0.97253	Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1365.98	40	chr15	42072303	.	C	G	1365.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.099;DP=836;ExcessHet=0.0000;FS=0.738;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.39;ReadPosRankSum=0.720;SOR=0.604	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr15	42081132	42081132	A	T	exonic	PLA2G4D	.	nonsynonymous SNV	PLA2G4D:NM_178034:exon12:c.T959A:p.V320E,	.	.	.	.	.	.	.	.	.	0.3396	0.342	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.987	D	0.719	P	0.000	D	0.999	D	3.005	M	3.47	T	-1.068	T	0.053	T	0.821	2.894	15.64	4.29	1.582	6.568	13.132	0.292	0.0402940568706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.987	0.61912	D	0.719	0.54822	P	0.000109	0.50451	D	0.000000	0.99932	0.46670	D	3.26	0.89945	M	3.47	0.05188	T	-5.5	0.85844	D	0.85	0.84609	-1.0678	0.09903	T	0.053	0.22307	T	10	0.85340047	0.84527	D	0.040294	0.59297	D	0.292	0.61157	0.624	0.75916	0.721900242082	0.71944	0.7074395231939061	0.70685	0.408351417736	0.41678	0.500811636448	0.38942	T	0.229917	0.59586	T	0.0913615	0.63342	D	-0.106542	0.62886	T	0.997261524200439	0.91148	D	0.814119	0.46793	T	0.9544575	0.96720	0.92239666	0.96566	0.9544575	0.96720	0.92239666	0.96566	-14.491	0.94543	D	.	.	0.817	0.78065	P	.	.	4.924119	0.81125	27.5	0.98668675733053757	0.44442	0.96592	0.69914	D	AEFBI	0.738898	0.68362	D	0.516976810812149	0.68092	5.170036	0.404806808973292	0.61864	4.392574	0.999999327747895	0.74766	0.495158	0.18159	0	0.59043	0.45803	0	0.535252	0.11790	0	0.530356	0.10902	0	.	.	4.29	4.29	0.50359	5.304000	0.65535	10.905000	0.84156	0.747000	0.86732	1.000000	0.71638	1.000000	0.68203	0.134000	0.19723	1.0:0.0:0.0:0.0	13.132	0.58803	84	0.96491	Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	245.98	33	chr15	42081132	.	A	T	245.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.81;DP=733;ExcessHet=0.0000;FS=5.286;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.82;ReadPosRankSum=1.38;SOR=1.700	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1163	20	0	1	0
chr15	42147155	42147155	C	A	exonic	PLA2G4F	.	nonsynonymous SNV	PLA2G4F:NM_213600:exon13:c.G1388T:p.G463V,	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.96	M	2.65	T	-0.934	T	0.111	T	0.783	2.390	13.95	3.1	1.301	3.279	10.278	0.361	0.0145425674118	.	.	8.327e-06	0	0	0	0	1.515e-05	0	0	1.29e-05	2	154602	rs375956650	1.233e-05	1.437e-05	6.814e-06	1.789e-05	0.0005	7.7e-06	6.36e-06	0.0001	7.697e-05	0	0	0	0	0	0.0005	1.169e-05	3.313e-05	0	6.57e-06	6.562e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	0.008	0.67890	D	1.0	0.90584	D	0.997	0.86255	D	0.000104	0.50451	D	0.082401	1	0.81001	D	3.87	0.95912	H	.	.	.	.	.	.	0.906	0.90704	-0.9339	0.43560	T	0.111	0.39864	T	10	0.97825557	0.97694	D	0.014543	0.34724	T	0.361	0.68141	0.878	0.96734	0.713728962764	0.71122	0.8565723763018895	0.85620	.	.	0.437563478947	0.30244	T	0.196386	0.55276	T	0.218989	0.75679	D	0.0767863	0.75362	D	0.980145335197449	0.73202	D	0.90031	0.65351	D	0.76912725	0.81996	0.666433	0.80440	0.76912725	0.81997	0.666433	0.80441	-12.302	0.86291	D	.	.	0.601	0.68921	P	.	.	3.622086	0.51264	23.1	0.99654598391592752	0.77505	0.92303	0.55401	D	AEFDBI	0.537188	0.55509	D	0.326023380282053	0.57488	3.916282	0.192157656119835	0.49416	3.14508	0.999657012450967	0.41424	0.497415	0.19182	0	0.547309	0.14657	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.11	3.1	0.34780	3.507000	0.53128	2.541000	0.33216	-0.187000	0.09635	0.996000	0.39380	1.000000	0.68203	0.182000	0.21359	0.0:0.7893:0.1354:0.0753	10.278	0.42701	243	0.90483	Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1209.98	33	chr15	42147155	.	C	A	1209.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.650e-01;DP=889;ExcessHet=0.0000;FS=1.401;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.24;ReadPosRankSum=-2.430e-01;SOR=0.759	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1124	20	0	1	0
chr15	42178529	42178529	C	G	exonic	VPS39	.	nonsynonymous SNV	VPS39:NM_015289:exon9:c.G760C:p.V254L	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.93	T	0.019	B	0.04	B	0.000	D	1.000	D	1.12	L	3.27	T	-1.057	T	0.021	T	0.581	2.460	14.18	5.18	2.687	5.841	18.886	0.161	0.0173728213133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.722e-06	1.375e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	0	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.479	0.08609	T	0.693	0.05863	T	0.009	0.17989	B	0.023	0.23831	B	0.000034	0.55875	D	0.120436	1	0.81001	D	1.2	0.30300	L	3.27	0.06602	T	-0.68	0.19509	N	0.533	0.56662	-1.0573	0.12439	T	0.021	0.08824	T	10	0.3075563	0.48257	T	0.017373	0.39041	T	0.161	0.41658	0.585	0.71245	0.330589388543	0.32661	0.5452908116105134	0.54455	0.4042939334	0.41333	0.752054810524	0.74750	T	0.044377	0.26796	T	-0.109314	0.34882	T	-0.394798	0.33991	T	0.724299728870392	0.41917	D	0.961404	0.85511	D	0.08250094	0.19009	0.08650428	0.20045	0.08250094	0.19009	0.08650428	0.20045	-2.764	0.08313	T	.	.	0.394	0.59228	A	.;.	.;.	3.245252	0.44319	21.9	0.98900777438370058	0.48181	0.98040	0.79094	D	AEFBI	0.737051	0.68237	D	-0.120506145603728	0.36501	2.110663	0.0902864824352416	0.44057	2.695004	0.999999826766514	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.18	5.18	0.71140	5.911000	0.69675	7.601000	0.61564	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	18.886	0.92347	351	0.85421	Citron homology (CNH) domain|Citron homology (CNH) domain|Citron homology (CNH) domain;Citron homology (CNH) domain|Citron homology (CNH) domain|Citron homology (CNH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	526.98	34	chr15	42178529	.	C	G	526.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.516e+00;DP=756;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.17;ReadPosRankSum=-1.407e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/1:20,20:40:99:541,0,554	20	0	1	0
chr15	42278547	42278547	A	G	exonic	GANC	.	nonsynonymous SNV	GANC:NM_001301410:exon3:c.A158G:p.D53G	.	.	432	1082	7	1	0	9	0.00414174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87	T	0.0	B	0.0	B	0.640	N	1.000	N	-1.185	N	2.23	T	-0.967	T	0.009	T	0.356	-2.182	0.005	-0.908	-0.307	0.268	0.374	0.050	0.00124170569323	.	0.000599042	0.0006	0	8.637e-05	0	0	0.0001	0	0.0035	0.0004592	71	154602	rs200477745	0.0003	0.0003	0.0002	0.0004	0.0036	0.0003	0.0002	0.0033	0.0031	2.991e-05	6.733e-05	0	0	0	0.0023	3.689e-05	0.0005	0.0036	0.0002	0.0002	8.991e-05	0.0003	0.0048	0.0002	0.0001	0.0033	0.0028	2.404e-05	0	0	0	0	0	0	0.0001	0	0.0048	0.523	0.24758	T	0.626	0.36630	T	0.0	0.02946	B	0.0	0.01387	B	0.640399	0.10605	N	0.845750	1	0.08975	N	-0.205	0.04094	N	2.23	0.18083	T	0.57	0.12472	N	0.067	0.04668	-0.9667	0.37874	T	0.009	0.03271	T	10	0.0036210418	0.00066	T	0.001242	0.01658	T	0.050	0.13987	0.248	0.18447	0.0716867268079	0.06686	0.3007147056718181	0.29984	0.0225653391353	0.02277	0.238291412592	0.02639	T	0.073879	0.44646	T	-0.542567	0.00323	T	-0.553609	0.16980	T	0.0235768483486972	0.01092	T	0.642236	0.25428	T	0.03735528	0.04774	0.033168927	0.02169	0.03735528	0.04773	0.033168927	0.02169	-3.043	0.10651	T	.	.	0.058	0.18787	B	.;.;.;.;.	.;.;.;.;.	0.480630	0.08503	5.262	0.57281981692343187	0.05735	0.00244	0.01352	N	AEFBI	0.021196	0.00918	N	-1.71555168267237	0.00788	0.0340437	-1.61853053223319	0.01546	0.07007482	0.679973812817064	0.22468	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.44	-0.908	0.09982	0.503000	0.22318	1.637000	0.27771	-1.002000	0.01800	0.007000	0.17678	0.817000	0.27092	0.643000	0.32503	0.3172:0.1306:0.2848:0.2674	0.374	0.00357	481	0.77356	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1054.98	110	chr15	42278547	.	A	G	1054.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.289;DP=940;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.59;ReadPosRankSum=-1.274e+00;SOR=0.697	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	20	0	1	0
chr15	42284019	42284019	C	T	exonic	GANC	.	nonsynonymous SNV	GANC:NM_001301410:exon5:c.C827T:p.P276L,	.	.	426	1069	26	1	0	28	0.0129271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.003	B	0.003	B	.	.	1.000	N	.	.	1.45	T	-1.010	T	0.046	T	0.029	1.013	9.136	-1.1	-0.373	-1.152	3.498	0.010	.	.	0.000199681	0.0092	0	0	0	.	0.0004	0.0098	0.0128	0.0006015	93	154602	rs562954349	0.0014	0.0012	0.0006	0.0020	0.0106	0.0013	0.0013	0.0100	0.0097	6.328e-05	0	5.004e-05	0	0	0.0022	0.0002	0.0006	0.0106	0.0004	0.0004	0.0001	0.0006	0.0083	0.0003	0.0003	0.0063	0.0055	0	0	0	0	0	0	0	0.0002	0.0005	0.0083	0.0	0.91255	D	0.159	0.31527	T	0.003	0.11197	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	1.45	0.32482	T	-0.13	0.08971	N	0.073	0.04668	-1.0097	0.27012	T	0.046	0.19879	T	8	0.0036540627	0.00067	T	.	.	.	0.010	0.01040	0.192	0.10304	0.0401082797425	0.02173	.	.	.	.	.	.	.	.	.	.	-0.68708	0.00044	T	-0.751757	0.03417	T	0.0203424757880692	0.00734	T	0.434357	0.11884	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.24833	B	.	.	-0.153246	0.03337	0.587	0.85463737390204331	0.15909	0.01979	0.05984	N	AEFBI	0.030165	0.02983	N	-1.09297683449539	0.06771	0.3126915	-1.17286806246445	0.06366	0.3062126	0.68454655080089	0.22518	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	3.37	-1.1	0.09367	-1.116000	0.03397	-1.266000	0.05865	-0.873000	0.02525	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.0:0.4198:0.2:0.3802	3.498	0.07222	500	0.76024	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	734.98	48	chr15	42284019	.	C	T	734.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.663;DP=862;ExcessHet=0.0000;FS=2.677;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=-7.030e-01;SOR=0.327	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	20	0	1	0
chr15	42339751	42339751	C	-	exonic	GANC	.	frameshift deletion	GANC:NM_198141:exon17:c.1926delC:p.R643Vfs*6,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.473e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs569010658	7.525e-06	7.524e-06	4.084e-06	1.1e-05	0.0002	4.04e-06	2.95e-06	6.246e-05	4.757e-05	0	0	0	0	0	0.0002	0	0	0.0001	1.314e-05	1.312e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	7.304e-05	3.034e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3678.05	38	chr15	42339750	.	TC	T	3678.05	.	AC=2;AF=0.048;AN=42;DP=1648;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=25.07;SOR=0.842	GT:AD:DP:GQ:PL	0/0:164,0:164:99:0,120,1800	20	1	0	0
chr15	42417393	42417393	G	C	exonic	ZNF106	.	nonsynonymous SNV	ZNF106:NM_001381998:exon20:c.C3079G:p.L1027V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.743e-06	0.0001	0	5.513e-06	3.606e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.606e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	255.21	39	chr15	42417393	.	G	C,A	255.21	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=-3.444e+00;DP=1006;ExcessHet=0.1072;FS=168.945;InbreedingCoeff=-0.1270;MLEAC=1,1;MLEAF=0.031,0.031;MQ=60.00;MQRankSum=0.00;QD=1.89;ReadPosRankSum=-1.880e-01;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0,0:39:99:.:.:0,114,1310,114,1310,1310	14	0	1	5
chr15	42417393	42417393	G	A	exonic	ZNF106	.	nonsynonymous SNV	ZNF106:NM_001381998:exon20:c.C3079T:p.L1027F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.26e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs766932726	6.857e-07	1.368e-06	0	1.378e-06	9.015e-07	0	0	.	.	0	0	0	0	0	0	9.015e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	255.21	39	chr15	42417393	.	G	C,A	255.21	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=-3.444e+00;DP=1006;ExcessHet=0.1072;FS=168.945;InbreedingCoeff=-0.1270;MLEAC=1,1;MLEAF=0.031,0.031;MQ=60.00;MQRankSum=0.00;QD=1.89;ReadPosRankSum=-1.880e-01;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0,0:39:99:.:.:0,114,1310,114,1310,1310	14	0	1	5
chr15	42425015	42425015	C	T	exonic	ZNF106	.	nonsynonymous SNV	ZNF106:NM_001284306:exon12:c.G2495A:p.R832Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.018	B	0.002	B	0.001	N	0.875	D	-0.55	N	2.26	T	-0.954	T	0.012	T	0.159	1.467	10.85	1.38	0.461	2.669	6.502	0.028	0.0031779164567	.	.	8.259e-06	0	0	0	0	0	0	6.067e-05	6.5e-06	1	154602	rs201102338	2.737e-06	2.736e-06	4.084e-06	1.376e-06	2.519e-05	6.4e-07	4.3e-07	.	.	0	0	0	2.519e-05	0	0	8.995e-07	1.656e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05229	T	1.0	0.11190	T	0.018	0.17786	B	0.002	0.06944	B	0.001463	0.38917	N	0.257518	0.874903	0.35635	D	-1.215	0.00820	N	2.26	0.34841	T	1.02	0.01447	N	0.084	0.08786	-0.9539	0.40292	T	0.012	0.04653	T	10	0.04412949	0.03336	T	0.003178	0.06966	T	0.028	0.06331	0.442	0.49811	0.152612264143	0.14878	0.16610105355850002	0.16530	0.169774760906	0.19140	0.31241479516	0.12271	T	0.016165	0.13414	T	-0.273915	0.11323	T	-0.530607	0.19226	T	0.174006387591362	0.18848	T	0.873813	0.58533	D	0.01844428	0.00366	0.026616422	0.00760	0.01844428	0.00365	0.026616422	0.00760	-1.41	0.01793	T	.	.	0.061	0.12797	B	.;.;.;.;.	.;.;.;.;.	1.862669	0.23660	16.10	0.93792344813170792	0.23757	0.62194	0.31708	D	AEFBI	0.057923	0.10829	N	-0.702275833205334	0.15957	0.8088408	-0.493256124852291	0.22338	1.212843	0.834637595470684	0.24755	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.53	1.38	0.21262	2.664000	0.46448	-1.608000	0.05070	-0.176000	0.10722	1.000000	0.71638	0.000000	0.08366	0.953000	0.50222	0.0:0.4432:0.0:0.5568	6.502	0.21369	394	0.83065	WD40-repeat-containing domain;.;WD40-repeat-containing domain;WD40-repeat-containing domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1438.98	36	chr15	42425015	.	C	T	1438.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.300;DP=795;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=-2.290e-01;SOR=0.681	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1363	20	0	1	0
chr15	42450702	42450702	G	A	exonic	ZNF106	.	nonsynonymous SNV	ZNF106:NM_022473:exon2:c.C1501T:p.P501S	.	.	431	1088	2	1	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.006	N	1.000	N	-0.97	N	0.93	T	-0.992	T	0.030	T	0.083	-2.818	0	3.77	1.014	1.984	8.320	0.081	0.00252812355607	.	.	4.942e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs772280487	2.805e-05	2.805e-05	1.497e-05	4.125e-05	0.0003	2.086e-05	1.878e-05	0.0002	0.0002	0	0	0	0	0	0.0002	9.892e-06	3.311e-05	0.0003	2.627e-05	2.625e-05	1.285e-05	4.03e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	1.0	0.00964	T	0.993	0.06643	T	0.0	0.02946	B	0.0	0.01387	B	0.005676	0.32605	N	0.332965	1	0.19072	N	-1.21	0.00826	N	0.93	0.44065	T	1.59	0.00660	N	0.079	0.05414	-0.9919	0.32115	T	0.030	0.13067	T	10	0.01676336	0.00355	T	0.002528	0.05065	T	0.081	0.23632	0.128	0.03331	0.15556083564	0.15200	0.012600551618064877	0.01219	0.147531656826	0.16648	0.253764390945	0.04175	T	0.005082	0.04516	T	-0.509254	0.00507	T	-0.658766	0.08350	T	0.0166805381666185	0.00426	T	0.634936	0.24909	T	0.02202507	0.00839	0.033353902	0.02216	0.02202507	0.00838	0.033353902	0.02216	-2.134	0.03732	T	.	.	0.061	0.02797	B	.;.;.	.;.;.	0.319650	0.06943	3.488	0.15729096668282808	0.00395	0.03391	0.08501	N	AEFBI	0.026805	0.02075	N	-1.09010433020006	0.06824	0.3152605	-0.895571509010407	0.12198	0.6260898	0.999907752888306	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.99	3.77	0.42499	2.208000	0.42436	3.358000	0.37837	-0.112000	0.15009	0.993000	0.37899	0.987000	0.30940	0.687000	0.33748	0.7733:0.0:0.2267:0.0	8.320	0.31287	102	0.95784	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2320.98	37	chr15	42450702	.	G	A	2320.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.27;DP=997;ExcessHet=0.0000;FS=0.517;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=0.143;SOR=0.709	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr15	42528287	42528287	G	T	exonic	SNAP23	.	nonsynonymous SNV	SNAP23:NM_003825:exon6:c.G292T:p.A98S,	.	.	436	1083	2	1	0	4	0.00184332	.	.	2380339	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.66	T	0.005	B	0.009	B	0.011	N	1.000	D	1.405	L	.	.	-1.052	T	0.116	T	0.16	1.832	12.09	3.52	0.532	1.005	5.289	0.030	0.00161923234541	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs756726088	1.573e-05	1.573e-05	1.497e-05	1.65e-05	0.0003	1.048e-05	8.75e-06	6.092e-05	2.521e-05	0	0	0	0	1.872e-05	0.0003	1.349e-05	6.623e-05	1.159e-05	1.314e-05	1.313e-05	2.571e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.576	0.08335	T	0.7	0.09425	T	0.005	0.12996	B	0.009	0.14300	B	0.011223	0.29610	N	0.385948	1	0.81001	D	1.875	0.49914	L	.	.	.	0.06	0.08187	N	0.099	0.08088	-1.0516	0.13954	T	0.116	0.41008	T	9	0.10402143	0.19156	T	0.001619	0.02625	T	0.030	0.07022	0.36	0.36385	0.346148929819	0.34228	0.2262435677907953	0.22539	0.260338649392	0.28604	0.437899380922	0.30291	T	0.015204	0.51207	T	-0.219024	0.18126	T	-0.444732	0.28280	T	0.0788072049617767	0.09833	T	0.677432	0.28627	T	0.023712277	0.01135	0.030845834	0.01592	0.023712277	0.01135	0.030845834	0.01592	-3.656	0.18671	T	.	.	0.081	0.11366	B	.;.;.;.	.;.;.;.	2.269737	0.29014	17.98	0.92240614777962193	0.21618	0.86256	0.45501	D	AEFBI	0.269301	0.38561	N	-0.347120504837264	0.27378	1.501622	-0.181678069555036	0.32209	1.830287	0.932161491579934	0.27077	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.83	3.52	0.39415	1.155000	0.31311	5.094000	0.47379	0.656000	0.54149	0.998000	0.41325	1.000000	0.68203	0.700000	0.34141	0.2043:0.0:0.6468:0.1489	5.289	0.15028	92	0.96160	SNAP-25;SNAP-25;SNAP-25;SNAP-25	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	719.98	35	chr15	42528287	.	G	T	719.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.016e+00;DP=1001;ExcessHet=0.0000;FS=0.856;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.35;ReadPosRankSum=-7.770e-01;SOR=0.583	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	20	0	1	0
chr15	42675927	42675927	A	T	exonic	STARD9	.	nonsynonymous SNV	STARD9:NM_020759:exon20:c.A1826T:p.D609V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	D	0.55	N	-0.28	T	-0.761	T	0.153	T	0.691	2.724	15.07	4.38	2.333	3.177	7.732	0.347	0.129688247253	.	0.000798722	5.694e-05	0	0	0	0	0	0	0.0001	3.23e-05	5	154602	rs187004039	4.766e-05	4.515e-05	3.421e-05	6.146e-05	0.0013	3.843e-05	3.506e-05	0.0010	0.0009	0	0	0	0.0013	0	0	9.269e-07	0.0002	0.0001	0.0001	0.0001	7.726e-05	0.0002	0.0033	8.186e-05	6.739e-05	0.0021	0.0017	0	0	0	0	0.0033	0	0	0	0	0.0004	0.0	0.91255	D	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	0.999757	0.48800	D	2.25	0.63811	M	-0.28	0.67543	T	-3.12	0.77143	D	0.383	0.42443	-0.7613	0.57334	T	0.153	0.48222	T	7	0.022488058	0.00563	T	0.129688	0.81176	D	0.347	0.66863	.	.	0.628044946261	0.62500	0.3973583382635932	0.39650	.	.	0.367960005999	0.20539	T	0.138414	0.47188	T	-0.194735	0.21566	T	-0.0583573	0.66448	T	0.17490220692937	0.18907	T	0.781422	0.41649	T	0.25254762	0.48271	0.317995	0.57771	0.25254762	0.48270	0.317995	0.57770	-2.664	0.07006	T	.	.	0.166	0.39425	B	.;.	.;.	3.981842	0.58545	24.0	0.99232243073980431	0.56246	0.95345	0.64359	D	AEFGBI	0.298367	0.40770	N	0.136072156031681	0.48151	3.031271	0.217142592808118	0.50797	3.268146	0.99160779382956	0.32545	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.55	4.38	0.52019	3.205000	0.50792	5.279000	0.48175	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.781000	0.36947	0.7806:0.1417:0.0777:0.0	7.732	0.27957	94	0.96106	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1298.98	37	chr15	42675927	.	A	T	1298.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.200e-02;DP=824;ExcessHet=0.0000;FS=9.369;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=-5.360e-01;SOR=0.677	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1248	20	0	1	0
chr15	42685420	42685437	TCCAACCCCATTGTGAGC	-	exonic	STARD9	.	nonframeshift deletion	STARD9:NM_020759:exon23:c.3842_3859del:p.L1299_E1304del,	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0.0033	0	0	0.0003	0	0.0005	3.84e-05	1	26028	rs762481813	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	3.176e-05	0.0006	3.978e-05	8.404e-05	0.0001	0	0.0002	0.0004	0.0002	0.0004	0.0004	0.0004	0.0004	0.0008	0.0003	0.0003	0.0005	0.0005	4.853e-05	0	0.0003	0	0.0008	0	0.0034	0.0007	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4750.94	38	chr15	42685419	.	TTCCAACCCCATTGTGAGC	T	4750.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.64;DP=4006;ExcessHet=0.0000;FS=0.810;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=2.47;SOR=0.636	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1418	20	0	1	0
chr15	42685477	42685477	-	ACCCCATT	exonic	STARD9	.	frameshift insertion	STARD9:NM_020759:exon23:c.3899_3900insACCCCATT:p.E1304Pfs*10,	.	.	432	1070	14	0	6	20	0.00649954	.	.	703197	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0	0.0011	0.0045	0	7.12e-05	11	154602	rs775583719	0.0012	0.0011	0.0011	0.0014	0.0035	0.0012	0.0011	0.0029	0.0028	0.0016	0.0007	0.0012	2.811e-05	0.0004	0.0035	0.0011	0.0019	0.0033	0.0028	0.0029	0.0030	0.0026	0.0046	0.0026	0.0025	0.0035	0.0034	0.0023	0.0022	0.0018	0.0009	0	0.0002	0.0034	0.0039	0.0057	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	6592.94	38	chr15	42685477	.	A	AACCCCATT	6592.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.197e+00;DP=3732;ExcessHet=0.0000;FS=1.104;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=-1.517e+00;QD=14.59;ReadPosRankSum=-8.750e-01;SOR=0.809	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,111,1418	20	0	1	0
chr15	42685478	42685478	-	TGAGCTCCAA	exonic	STARD9	.	stopgain	STARD9:NM_020759:exon23:c.3900_3901insTGAGCTCCAA:p.P1301*,	.	.	450	458	440	156	18	770	0.450839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0	0.0012	0.0047	0	3.84e-05	1	26028	rs760755023	0.0012	0.0011	0.0010	0.0013	0.0035	0.0011	0.0011	0.0029	0.0028	0.0004	0.0006	0.0012	2.803e-05	0.0004	0.0035	0.0011	0.0018	0.0032	0.0023	0.0024	0.0026	0.0021	0.0046	0.0021	0.0020	0.0035	0.0034	0.0005	0.0022	0.0016	0.0009	0	0.0002	0.0034	0.0039	0.0057	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	78588.79	38	chr15	42685478	.	G	A,GTGAGCTCCAA	78588.79	.	AC=13,1;AF=0.310,0.024;AN=42;BaseQRankSum=-2.021e+00;DP=5578;ExcessHet=2.0984;FS=0.534;InbreedingCoeff=-0.0714;MLEAC=13,1;MLEAF=0.310,0.024;MQ=60.00;MQRankSum=0.00;QD=15.43;ReadPosRankSum=-9.180e-01;SOR=0.645	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0,0:37:99:.:.:0,111,1418,111,1418,1418	9	2	9	0
chr15	42686047	42686047	A	T	exonic	STARD9	.	nonsynonymous SNV	STARD9:NM_020759:exon23:c.A4469T:p.K1490M,	.	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.077	U	0.998	N	1.525	L	-0.27	T	-0.703	T	0.263	T	0.498	3.669	18.65	4.73	2.234	2.609	7.833	0.214	0.110278131373	.	0.000199681	0.0010	0	0	0	0	0.0001	0	0.0023	0.0001294	20	154602	rs559447218	0.0002	0.0002	9.265e-05	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	0	0	0.0003	0	0	0.0012	7.415e-06	0.0004	0.0023	7.88e-05	7.874e-05	2.571e-05	0.0001	0.0021	4.494e-05	3.51e-05	0.0011	0.0009	0	0	0	0.0003	0	0	0	1.471e-05	0	0.0021	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	0.077325	0.21110	U	0.314197	0.997811	0.22494	N	2.015	0.55033	M	-0.27	0.67367	T	-1.91	0.44471	N	0.299	0.33796	-0.7034	0.60275	T	0.263	0.63361	T	8	0.02331701	0.00606	T	0.110278	0.78759	D	0.214	0.50650	.	.	0.687126406979	0.68444	0.2875749905124458	0.28670	.	.	0.350045114756	0.17929	T	0.025796	0.19218	T	-0.299928	0.08667	T	-0.210078	0.53690	T	0.0999524524151459	0.12352	T	0.762924	0.38892	T	0.20038092	0.42011	0.16114123	0.37497	0.20038092	0.42011	0.16114123	0.37496	-5.814	0.44696	T	.	.	0.323	0.54696	B	.	.	3.582778	0.50517	23.0	0.99417974726429814	0.63597	0.85152	0.44261	D	AEFBI	0.128946	0.24692	N	0.263657760805842	0.54318	3.597624	0.327140348471716	0.57140	3.878818	0.986872266955226	0.31142	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	5.85	4.73	0.59485	2.825000	0.47797	4.751000	0.44659	0.756000	0.94297	0.989000	0.36753	1.000000	0.68203	0.756000	0.36000	0.9098:0.0:0.0902:0.0	7.833	0.28513	91	0.96221	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2618.98	38	chr15	42686047	.	A	T	2618.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.581e+00;DP=1467;ExcessHet=0.0000;FS=5.258;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.47;ReadPosRankSum=0.017;SOR=0.622	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1418	20	0	1	0
chr15	42687884	42687884	C	G	exonic	STARD9	.	nonsynonymous SNV	STARD9:NM_020759:exon23:c.C6306G:p.D2102E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	.	.	.	.	.	.	1.000	N	0.49	N	0.07	T	-1.022	T	0.071	T	0.027	2.559	14.52	-2.75	0.061	-0.523	2.34	0.088	0.0332129405883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.221e-07	6.84e-07	0	1.463e-06	2.798e-05	0	0	.	.	0	0	0	2.798e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.698	0.04200	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.145	0.08828	N	0.07	0.61677	T	-0.39	0.13611	N	0.013	0.00142	-1.0225	0.22899	T	0.071	0.29066	T	7	0.049752116	0.04610	T	0.033213	0.54826	D	0.088	0.25558	0.031	0.00008	0.0666544352282	0.05500	0.012645211082829384	0.01223	.	.	0.218173280358	0.01206	T	0.003049	0.02453	T	-0.306149	0.08092	T	-0.677539	0.07135	T	0.0464627834961034	0.04868	T	0.282272	0.04954	T	0.04066147	0.05847	0.032782238	0.02066	0.04066147	0.05846	0.032782238	0.02066	-2.906	0.09203	T	.	.	0.202	0.42606	B	.	.	0.503794	0.08731	5.502	0.94936434305988415	0.25826	0.02822	0.07558	N	AEFDGBI	0.043169	0.06790	N	-0.844617416329441	0.12182	0.5922837	-0.952171146033122	0.10873	0.5504311	0.999772128723892	0.42865	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.95	-2.75	0.05564	-0.363000	0.07645	0.959000	0.22978	0.599000	0.40250	0.000000	0.06391	0.990000	0.31317	0.133000	0.19684	0.5062:0.2183:0.1185:0.157	2.34	0.03997	91	0.96221	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2476.98	38	chr15	42687884	.	C	G	2476.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=1439;ExcessHet=0.0000;FS=1.965;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.29;ReadPosRankSum=-3.890e-01;SOR=0.778	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,111,1418	20	0	1	0
chr15	42746183	42746183	T	G	exonic	TTBK2	.	nonsynonymous SNV	TTBK2:NM_173500:exon15:c.A3347C:p.Q1116P,	Spinocerebellar ataxia 11, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.806	P	0.000	D	1.000	D	0.55	N	1.01	T	-0.887	T	0.130	T	0.678	3.980	20.4	5.13	2.156	5.330	15.111	0.195	0.035873130348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.319	0.23776	T	0.996	0.68779	D	0.806	0.58437	P	0.000002	0.62929	D	0.059816	0.999949	0.51968	D	1.78	0.46185	L	1.01	0.41058	T	-0.91	0.24460	N	0.725	0.72656	-0.8869	0.49198	T	0.130	0.43968	T	10	0.28069976	0.45646	T	0.035873	0.56631	D	0.195	0.47612	0.173	0.07894	0.128874641272	0.12493	0.4226094165837903	0.42177	0.913198446343	0.71136	0.711121976376	0.68755	T	0.107967	0.42061	T	0.0327064	0.56084	T	-0.190796	0.55515	T	0.903732359409332	0.55702	D	0.849515	0.53247	T	0.41250783	0.61589	0.39406314	0.64109	0.41250783	0.61590	0.39406314	0.64109	-3.093	0.11216	T	.	.	0.487	0.69182	A	.;.	.;.	4.417543	0.68392	25.2	0.99435211211867525	0.64472	0.94850	0.62546	D	AEFBI	0.787298	0.71712	D	0.478401239212423	0.65830	4.872159	0.524168255278128	0.69622	5.386518	0.9999864681754	0.51787	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.13	5.13	0.69729	5.646000	0.67590	7.922000	0.74576	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.111	0.72032	84	0.96491	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1141.98	34	chr15	42746183	.	T	G	1141.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.350e+00;DP=818;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.76;ReadPosRankSum=2.95;SOR=0.692	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1142	20	0	1	0
chr15	42840406	42840406	C	G	exonic	TTBK2	.	nonsynonymous SNV	TTBK2:NM_173500:exon4:c.G245C:p.G82A,	Spinocerebellar ataxia 11, Autosomal dominant	.	2	1514	6	0	0	6	0.00197759	.	.	441741	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.902	P	0.902	P	0.000	D	1.000	D	0.75	N	1.93	T	-1.019	T	0.107	T	0.889	3.021	16.08	5.31	2.648	6.988	18.935	0.420	0.14805088156	0.0003	0.000399361	0.0003	0	0	0	0	0.0005	0	0.0002	0.0002523	39	154602	rs200821440	0.0003	0.0003	0.0003	0.0003	0.0045	0.0002	0.0002	0.0032	0.0027	0.0006	0.0001	0	0	0	0.0045	0.0003	0.0004	0.0003	0.0003	0.0003	0.0002	0.0004	0.0004	0.0002	0.0002	0.0003	0.0003	0.0002	0	0.0001	0	0	0	0.0102	0.0004	0.0009	0.0002	0.036	0.43393	D	0.04	0.59732	D	0.597	0.49745	P	0.678	0.64047	P	0.000000	0.84330	D	0.044251	1	0.81001	D	0.505	0.13445	N	1.93	0.22881	T	-5.71	0.89401	D	0.93	0.94196	-1.0190	0.24041	T	0.107	0.38955	T	10	0.42749122	0.57271	T	0.148051	0.83001	D	0.420	0.72930	.	.	0.476521225925	0.47281	0.7631474613662579	0.76262	0.903865718972	0.70756	0.779498100281	0.78851	T	0.354751	0.72186	T	-0.192418	0.21904	T	-0.155591	0.58746	T	0.26270267367363	0.23432	T	0.980302	0.94694	D	0.87693137	0.89417	0.81012625	0.88908	0.9195968	0.93209	0.79001737	0.87647	-9.112	0.68414	D	.	.	0.864	0.80551	P	.;.;.;.;.	.;.;.;.;.	4.838636	0.78981	27.0	0.95334170494985193	0.26697	0.97518	0.75271	D	AEFBI	0.883216	0.81195	D	0.472593576090897	0.65496	4.829807	0.560772000652274	0.72148	5.764658	0.999999037759939	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.31	5.31	0.75063	7.211000	0.77438	7.578000	0.60885	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.935	0.92554	99	0.95913	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.04762	1582.11	39	chr15	42840406	.	C	G	1582.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.03;DP=866;ExcessHet=0.1072;FS=1.913;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.04;ReadPosRankSum=-3.840e-01;SOR=0.554	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	19	0	2	0
chr15	43021291	43021291	A	G	exonic	UBR1	.	nonsynonymous SNV	UBR1:NM_174916:exon27:c.T2924C:p.I975T,	Johanson-Blizzard syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.975	D	0.616	P	0.000	D	1.000	D	2.05	M	0.39	T	-0.578	T	0.227	T	0.77	3.235	16.85	4.83	2.163	8.292	14.856	0.352	0.0568671016026	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1287101894	1.386e-06	1.508e-05	0	2.783e-06	2.329e-05	2.3e-07	9e-08	3.87e-06	1.45e-06	0	0	0	0	0	0	0	0	2.329e-05	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.72154	D	0.003	0.76473	D	0.877	0.48223	P	0.335	0.42239	B	0.000088	0.51296	D	0.168957	0.999825	0.81001	D	1.87	0.49600	L	0.39	0.57419	T	-3.24	0.65171	D	0.897	0.90251	-0.5780	0.65696	T	0.227	0.59208	T	10	0.901292	0.89490	D	0.056867	0.66759	D	0.352	0.67326	0.75	0.88071	0.700849342337	0.69825	0.45486979996443216	0.45404	0.331662542844	0.35236	0.694372951984	0.66333	T	0.758848	0.93451	D	0.0949073	0.63738	D	-0.00459463	0.70038	D	0.908208012580872	0.56272	D	0.962104	0.85685	D	0.3664358	0.58321	0.44078487	0.67385	0.3664358	0.58321	0.44078487	0.67385	-7.526	0.57793	D	0.803226725685942	0.87956	0.531	0.66670	A	.;.	.;.	3.868307	0.56145	23.7	0.99495853286271851	0.67744	0.99753	0.99211	D	AEFBI	0.836665	0.75439	D	0.56937207432988	0.71269	5.625336	0.579739048421578	0.73488	5.978799	0.999853971234939	0.44174	0.706548	0.73137	0	0.653731	0.59785	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.83	4.83	0.61880	8.293000	0.89858	11.232000	0.90136	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.856	0.69969	15	0.98792	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	189.73	40	chr15	43021291	.	A	G	189.73	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.387e+00;DP=1753;ExcessHet=0.3300;FS=121.510;InbreedingCoeff=-0.0782;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.44;ReadPosRankSum=-7.310e-01;SOR=11.241	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1205	18	0	3	0
chr15	43191645	43191645	T	C	exonic	CCNDBP1	.	nonsynonymous SNV	CCNDBP1:NM_012142:exon8:c.T830C:p.I277T,	.	.	431	1073	17	1	0	19	0.00877598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.977	D	0.000	D	1.000	D	2.015	M	0.68	T	-0.508	T	0.271	T	0.958	4.178	21.6	5.35	2.253	5.650	13.334	0.485	0.0445118252133	0.0018	0.00119808	0.0021	0.0009	0.0029	0	0	0.0031	0.0056	0.0001	0.0020569	318	154602	rs78193368	0.0021	0.0021	0.0021	0.0021	0.0298	0.0020	0.0020	0.0261	0.0247	0.0007	0.0032	0.0205	0	0.0001	0.0298	0.0018	0.0031	0.0003	0.0024	0.0024	0.0024	0.0024	0.0048	0.0022	0.0021	0.0039	0.0036	0.0003	0	0.0048	0.0196	0.0002	9.418e-05	0.0408	0.0026	0.0057	0.0002	0.004	0.65419	D	0.008	0.67890	D	0.999	0.77913	D	0.977	0.73820	D	0.000003	0.62929	D	0.061085	0.992255	0.41596	D	2.675	0.78361	M	0.68	0.51952	T	-2.92	0.61129	D	0.756	0.75466	-0.5084	0.68345	T	0.271	0.64266	T	10	0.012171805	0.00263	T	0.044512	0.61527	D	0.485	0.77399	.	.	0.787488330306	0.78551	0.56531860541395	0.56458	0.684711321429	0.60236	0.607470273972	0.53957	T	0.49721	0.81917	T	-0.0530098	0.43989	T	0.152032	0.80312	D	0.0233625366792587	0.01067	T	0.89611	0.63771	D	0.59699816	0.72529	0.42116138	0.66057	0.59699816	0.72530	0.42116138	0.66057	-8.395	0.63732	D	.	.	0.447	0.62063	A	.	.	4.573703	0.72187	25.8	0.9985489717374868	0.93368	0.97514	0.75245	D	AEFBI	0.680581	0.64423	D	0.698838947571908	0.79556	7.102656	0.681039188547899	0.80941	7.412114	0.999999949269164	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.35	5.35	0.76297	5.996000	0.70309	7.797000	0.69042	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:0.0:1.0	13.334	0.59947	17	0.98681	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	793.98	58	chr15	43191645	.	T	C	793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.400e-01;DP=826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=0.456;SOR=0.576	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,100,1424	20	0	1	0
chr15	43253510	43253510	G	A	exonic	TGM5	.	nonsynonymous SNV	TGM5:NM_004245:exon4:c.C434T:p.A145V	Peeling skin syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.981	D	0.000	D	1.000	D	3.265	M	-3.02	D	0.992	D	0.891	D	0.81	5.411	34	4.79	2.649	9.247	15.707	0.883	0.143290410556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.988	0.68779	D	0.736	0.75168	P	0.000000	0.84330	D	0.000000	0.999977	0.53665	D	3.115	0.87836	M	-3.02	0.92258	D	-3.75	0.71157	D	0.761	0.75927	0.992	0.97061	D	0.891	0.96395	D	10	0.8555182	0.84746	D	0.14329	0.82562	D	0.883	0.96576	0.685	0.82271	0.83710409474	0.83555	0.5370040640801488	0.53625	0.344158463201	0.36343	0.732561588287	0.71880	T	0.319088	0.69041	T	0.342467	0.85998	D	0.254154	0.85814	D	0.997307181358337	0.91240	D	0.770923	0.60517	T	0.61665237	0.73584	0.6414646	0.79051	0.61665237	0.73585	0.6414646	0.79052	-11.035	0.80528	D	0.7538800060099708	0.83591	0.767	0.78462	P	.;.;.;.;.	.;.;.;.;.	5.721135	0.93226	33	0.99940564955574063	0.99767	0.92183	0.55130	D	ALL	0.873402	0.79574	D	0.941389203790599	0.93635	12.171	0.874626218829891	0.94368	12.70741	1.0	0.98316	0.487112	0.14033	0	0.218748	0.04544	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.79	4.79	0.60909	9.775000	0.98175	11.887000	0.98989	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	15.707	0.77348	15	0.98792	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1005.98	35	chr15	43253510	.	G	A	1005.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.51;DP=796;ExcessHet=0.0000;FS=0.832;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.93;ReadPosRankSum=-4.900e-01;SOR=0.586	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1280	20	0	1	0
chr15	43361917	43361917	T	G	exonic	ZSCAN29	.	nonsynonymous SNV	ZSCAN29:NM_152455:exon5:c.A1715C:p.E572A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.451	B	0.079	B	0.003	N	0.839	N	2.255	M	3.1	T	-1.084	T	0.027	T	0.335	1.519	11.03	4.87	2.040	1.926	12.485	0.063	0.00800821371926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.372e-06	1.368e-06	1.364e-06	1.38e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.166e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.03	0.54159	D	0.451	0.36091	B	0.079	0.28749	B	0.002757	0.36001	N	0.196476	0.838564	0.28663	N	2.695	0.78878	M	3.07	0.08547	T	-2.63	0.56466	D	0.076	0.31140	-1.0839	0.06609	T	0.027	0.11485	T	10	0.08571759	0.14500	T	0.008008	0.21239	T	0.063	0.18251	0.27	0.21893	0.368183359018	0.36430	0.2889935860856146	0.28812	0.100892439271	0.11402	0.535687804222	0.43837	T	0.117185	0.43709	T	-0.173205	0.24752	T	-0.486573	0.23751	T	0.62062406539917	0.37232	D	0.688631	0.29780	T	0.20628372	0.42799	0.14143176	0.33681	0.20628372	0.42798	0.14143176	0.33680	-5.123	0.38148	T	.	.	0.134	0.37969	B	.;.	.;.	2.919239	0.38750	20.8	0.98162525271893897	0.38789	0.04067	0.09519	N	AEFBHCI	0.083056	0.16824	N	0.0356782328430273	0.43483	2.640449	0.130566748111025	0.46120	2.863271	0.999987861113667	0.51787	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.87	4.87	0.62877	0.176000	0.16596	6.043000	0.53031	0.665000	0.62972	0.000000	0.06391	1.000000	0.68203	0.978000	0.57271	0.0:0.0:0.0:1.0	12.485	0.55209	15	0.98792	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2739.08	35	chr15	43361917	.	T	G	2739.08	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.320e-01;DP=897;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=31.85;ReadPosRankSum=-1.610e-01;SOR=0.553	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	1	0	0
chr15	43599215	43599215	G	A	exonic	CKMT1B	.	nonsynonymous SNV	CKMT1B:NM_001375484:exon9:c.G1196A:p.R399H	.	.	419	1059	43	1	0	45	0.0208044	.	.	703223	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.406	B	0.13	B	0.000	D	1.000	D	2.595	M	2.73	T	-1.065	T	0.028	T	0.495	2.031	12.75	4.03	2.247	4.718	15.682	0.141	.	0.0061	0.0117812	0.0067	0.0052	0.0031	0	0.0005	0.0059	0.0088	0.0195	0.0061836	956	154602	rs149544188	0.0070	0.0070	0.0065	0.0075	0.0190	0.0069	0.0068	0.0183	0.0180	0.0039	0.0029	0.0011	2.519e-05	0.0006	0.0106	0.0070	0.0065	0.0190	0.0059	0.0059	0.0058	0.0060	0.0219	0.0056	0.0054	0.0185	0.0172	0.0050	0.0154	0.0045	0.0017	0.0002	0.0003	0.0068	0.0071	0.0033	0.0219	0.011	0.55530	D	0.048	0.48594	D	.	.	.	.	.	.	0.000043	0.53742	D	0.156324	0.999779	0.81001	D	.	.	.	2.73	0.11839	T	-2.43	0.53258	N	0.456	0.49328	-1.0646	0.10642	T	0.028	0.11795	T	10	0.012996405	0.00277	T	.	.	.	0.141	0.37795	.	.	0.440077040801	0.43627	0.5025941048459912	0.50181	1.05160835918	0.76172	0.5574041605	0.46901	T	.	.	.	-0.426914	0.01548	T	-0.371073	0.36763	T	0.0285378306420102	0.01766	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.059779	0.84328	28.3	0.99341316789047662	0.60170	0.97026	0.72262	D	AEFGI	0.783221	0.71427	D	0.153610576451665	0.48984	3.103933	0.208122804756733	0.50297	3.223305	0.0384732486356425	0.14349	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	4.03	4.03	0.46115	2.516000	0.45181	10.006000	0.83069	0.616000	0.49467	0.999000	0.42656	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	15.682	0.77130	10	0.99061	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2822.98	35	chr15	43599215	.	G	A	2822.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.649;DP=995;ExcessHet=0.0000;FS=1.189;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.72;MQRankSum=-1.514e+00;QD=15.68;ReadPosRankSum=-6.000e-03;SOR=0.802	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1389	20	0	1	0
chr15	43604716	43604716	C	A	exonic	STRC	.	nonsynonymous SNV	STRC:NM_153700:exon20:c.G4061T:p.G1354V,	Deafness, autosomal recessive 16, Autosomal recessive	.	2	1516	3	1	0	5	0.00164636	.	.	2296740	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	0.892	P	0.472	P	0.125	N	1.000	D	0.55	N	-1.08	T	-0.808	T	0.236	T	0.39	2.760	15.19	0.633	0.269	-0.650	4.912	0.309	0.0704137426165	.	.	3.308e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs771060490	2.805e-05	2.805e-05	1.634e-05	3.989e-05	0.0005	2.087e-05	1.879e-05	0.0003	0.0002	0	0	0	0	0	0.0005	4.497e-06	1.657e-05	0.0004	6.578e-06	6.568e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.005	0.63226	D	0.008	0.69154	D	0.587	0.49086	P	0.262	0.46817	B	0.124604	0.18874	N	0.492562	1	0.81001	D	0.805	0.20218	L	-1.08	0.77078	T	-2.21	0.49684	N	0.223	0.26837	-0.8082	0.54659	T	0.236	0.60367	T	10	0.16108888	0.30224	T	0.070414	0.70995	D	0.309	0.63055	0.473	0.54859	0.798305706921	0.79642	0.22922459739210208	0.22837	.	.	0.311858266592	0.12188	T	0.115251	0.43369	T	-0.255814	0.13394	T	-0.300688	0.44653	T	0.195391493541677	0.20157	T	0.748625	0.36937	T	0.120724045	0.28402	0.1364207	0.32637	0.120724045	0.28402	0.1364207	0.32636	-5.079	0.37685	T	0.4086042323139703	0.49928	0.122	0.25462	B	.;.	.;.	1.923058	0.24423	16.39	0.99290732892119993	0.58255	0.26043	0.22878	N	AEFGBI	0.215594	0.34093	N	-0.440965277252301	0.24046	1.295714	-0.415951269831105	0.24529	1.343693	5.88492101248948E-5	0.04171	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.07	0.633	0.16883	-0.486000	0.06593	0.093000	0.14542	-0.891000	0.02386	0.572000	0.27522	0.153000	0.23196	0.755000	0.35964	0.0:0.3504:0.4326:0.2169	4.912	0.13183	10	0.99061	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1614.98	34	chr15	43604716	.	C	A	1614.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.402e+00;DP=865;ExcessHet=0.0000;FS=1.391;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=52.28;MQRankSum=-2.621e+00;QD=12.52;ReadPosRankSum=-1.040e-01;SOR=0.843	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1356	20	0	1	0
chr15	43617907	43617907	C	-	exonic	STRC	.	frameshift deletion	STRC:NM_153700:exon2:c.514delG:p.A172Lfs*12,	Deafness, autosomal recessive 16, Autosomal recessive	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	549.94	33	chr15	43617906	.	GC	G	549.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.812;DP=828;ExcessHet=0.0000;FS=5.740;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=38.49;MQRankSum=-3.400e-01;QD=4.44;ReadPosRankSum=0.959;SOR=1.329	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1309	20	0	1	0
chr15	43746652	43746652	G	T	exonic	PDIA3	.	nonsynonymous SNV	PDIA3:NM_005313:exon1:c.G113T:p.R38L,	.	.	405	1097	19	1	0	21	0.00948081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.001	B	0.001	B	0.001	N	1.000	D	-0.35	N	1.35	T	-1.101	T	0.044	T	0.603	1.890	12.28	4.53	1.273	2.749	14.126	0.269	0.0579080737237	0.0002	0.00159744	0.0014	0.0002	0.0003	0.0001	0.0002	0.0010	0.0023	0.0058	0.0012872	199	154602	rs61734331	0.0009	0.0009	0.0006	0.0011	0.0113	0.0008	0.0008	0.0091	0.0083	0.0006	0.0005	0.0009	0	0.0002	0.0113	0.0005	0.0014	0.0054	0.0008	0.0008	0.0006	0.0010	0.0060	0.0007	0.0006	0.0043	0.0037	9.617e-05	0	0.0012	0	0.0002	0.0002	0.0170	0.0008	0.0019	0.0060	0.419	0.09866	T	0.318	0.19246	T	0.001	0.07471	B	0.001	0.04355	B	0.001245	0.39669	N	0.293323	0.994678	0.81001	D	-0.385	0.03041	N	1.35	0.34648	T	-2.14	0.48523	N	0.525	0.55453	-1.1005	0.04032	T	0.044	0.18742	T	10	0.006813258	0.00155	T	0.057908	0.67131	D	0.269	0.58381	.	.	0.564807590308	0.56144	0.7740285478501997	0.77352	0.434678680271	0.43598	0.704465389252	0.67790	T	0.126148	0.45234	T	-0.42359	0.01623	T	-0.379454	0.35787	T	0.0361380109226858	0.03006	T	0.830117	0.49576	T	0.5613986	0.70587	0.3276413	0.58660	0.5613986	0.70588	0.3276413	0.58660	-5.088	0.37780	T	0.12083687271369165	0.11405	0.237	0.47116	B	.	.	3.797871	0.54703	23.5	0.92667001620153644	0.22148	0.94889	0.62681	D	ALL	0.637925	0.61653	D	-0.519989013244172	0.21433	1.13748	-0.319287757836083	0.27476	1.524883	0.999999999999977	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	5.46	4.53	0.55009	3.802000	0.55256	9.507000	0.80915	0.520000	0.23804	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.1506:0.8494:0.0	14.126	0.64749	6	0.99319	Thioredoxin domain|Thioredoxin domain|Disulphide isomerase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2216.98	175	chr15	43746652	.	G	T	2216.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.150e-01;DP=881;ExcessHet=0.0000;FS=2.633;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=-1.330e-01;SOR=0.634	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr15	43795520	43795520	C	T	exonic	SERINC4	.	nonsynonymous SNV	SERINC4:NM_001258032:exon10:c.G479A:p.R160K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.94	T	0.001	B	0.001	B	0.484	N	1.000	N	0.695	N	2.6	T	-0.934	T	0.017	T	0.109	-2.061	0.006	0.992	-0.051	0.255	5.855	0.016	0.00213534189194	.	0.000599042	9.885e-05	0	0	0	0	0	0	0.0007	9.7e-05	15	154602	rs201646905	6.362e-05	6.362e-05	3.675e-05	9.075e-05	0.0010	5.294e-05	4.911e-05	0.0008	0.0007	0	0	0	0	0	0.0002	0	0.0002	0.0010	3.939e-05	3.937e-05	2.569e-05	5.371e-05	0.0012	1.714e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.942	0.02186	T	0.912	0.02943	T	.	.	.	.	.	.	0.483973	0.12133	N	0.797530	0.999999	0.08975	N	0.805	0.20218	L	2.6	0.13204	T	0.2	0.04861	N	0.08	0.05542	-0.9344	0.43485	T	0.017	0.07092	T	10	0.007369399	0.00167	T	0.002135	0.03962	T	0.016	0.02506	0.486	0.56939	0.0401082797425	0.02173	0.3615124457238776	0.36065	0.00693086954409	0.00608	0.350611627102	0.18011	T	0.002043	0.01452	T	-0.419589	0.01721	T	-0.453475	0.27313	T	0.0121065670390818	0.00193	T	0.480552	0.14510	T	0.045461174	0.07445	0.039968096	0.04213	0.045461174	0.07445	0.039968096	0.04213	-3.351	0.14404	T	.	.	0.081	0.08081	B	.	.	-0.097370	0.03657	0.733	0.52087930472414301	0.04682	0.25776	0.22799	N	AEFDBHCI	0.113936	0.22461	N	-1.24770259659947	0.04330	0.1952213	-1.21145935950944	0.05725	0.2735934	0.999998356477032	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.696144	0.63334	0	0.662433	0.64102	0	.	.	6.17	0.992	0.18937	0.811000	0.26855	-0.118000	0.11753	-0.830000	0.02882	0.000000	0.06391	0.000000	0.08366	0.111000	0.18785	0.0:0.506:0.1249:0.3691	5.855	0.17966	6	0.99319	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1368.98	39	chr15	43795520	.	C	T	1368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=802;ExcessHet=0.0000;FS=4.591;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=1.18;SOR=0.845	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1250	20	0	1	0
chr15	44598762	44598762	C	T	exonic	SPG11	.	nonsynonymous SNV	SPG11:NM_001160227:exon22:c.G3761A:p.C1254Y	Amyotrophic lateral sclerosis 5, juvenile, Autosomal recessive;Charcot-Marie-Tooth disease, axonal, type 2X, Autosomal recessive;Spastic paraplegia 11, autosomal recessive, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	2.32	M	-1.55	D	0.508	D	0.732	D	0.942	4.448	23.7	6.03	2.854	5.558	20.567	0.748	0.124263262594	.	.	8.246e-06	9.641e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs765788274	1.368e-06	1.368e-06	2.722e-06	0	2.987e-05	2.3e-07	9e-08	.	.	2.987e-05	0	0	0	0	0	0	1.656e-05	0	1.314e-05	1.313e-05	0	2.69e-05	4.823e-05	2.18e-06	8.2e-07	7.99e-06	2.99e-06	4.823e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	0.000004	0.62929	D	0.105780	1	0.81001	D	2.7	0.79018	M	-1.55	0.81727	D	-8.28	0.97330	D	0.91	0.91162	0.508	0.90654	D	0.732	0.90830	D	10	0.8965622	0.89011	D	0.124263	0.80558	D	0.748	0.91328	.	.	0.896610966253	0.89558	0.7483631404161051	0.74782	0.299618368744	0.32332	0.747462749481	0.74072	T	0.541733	0.84322	D	0.279467	0.81271	D	0.345187	0.90126	D	0.996544897556305	0.89565	D	0.878912	0.63332	D	0.7336119	0.79928	0.9178329	0.96245	0.7336119	0.79930	0.9178329	0.96245	-7.939	0.62121	D	0.8627618995513873	0.92578	0.909	0.84389	P	.;.;.;.	.;.;.;.	4.537215	0.71281	25.6	0.99751726200645507	0.84305	0.97897	0.77954	D	AEFBI	0.695066	0.65386	D	0.850742668715354	0.89148	9.854713	0.840038599409771	0.92422	11.41652	0.999999999992236	0.74766	0.75658	0.98901	0	0.724815	0.89359	0	0.643519	0.47002	0	0.656636	0.63459	0	.	.	6.03	6.03	0.97798	5.653000	0.67639	5.899000	0.50862	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.567	0.99354	141	0.94388	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1272.98	36	chr15	44598762	.	C	T	1272.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.544e+00;DP=782;ExcessHet=0.0000;FS=2.929;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.80;ReadPosRankSum=0.411;SOR=0.575	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1181	20	0	1	0
chr15	45106877	45106877	G	A	exonic	DUOX2	.	nonsynonymous SNV	DUOX2:NM_001363711:exon15:c.C1786T:p.P596S	Thyroid dyshormonogenesis 6, Autosomal recessive	.	1	1508	12	1	0	14	0.00462046	.	.	873641	Thyroid_dyshormonogenesis_6|not_provided	MONDO:MONDO:0011792,MedGen:C1846632,OMIM:607200,Orphanet:95716|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.43	T	0.032	B	0.041	B	0.008	N	0.996	N	1.61	L	.	.	-0.998	T	0.114	T	0.28	0.108	4.581	0.638	-0.153	1.306	15.679	0.079	.	0.0002	0.00938498	0.0115	0.0005	0.0027	0	0	0.0001	0.0030	0.0563	0.0053363	825	154602	rs373790251	0.0031	0.0031	0.0016	0.0045	0.0508	0.0030	0.0029	0.0495	0.0490	0.0001	0	0	2.566e-05	0	0.0023	1.636e-05	0.0032	0.0508	0.0016	0.0016	0.0008	0.0024	0.0481	0.0014	0.0014	0.0430	0.0411	0.0002	0	6.533e-05	0	0	0	0	0	0.0009	0.0481	0.428	0.09600	T	0.416	0.14284	T	0.01	0.15535	B	0.017	0.18140	B	0.007831	0.31171	N	0.353495	0.995539	0.23266	N	2.125	0.59049	M	-1.95	0.85003	D	0.92	0.01573	N	0.412	0.45237	-0.9979	0.30507	T	0.114	0.40490	T	9	0.0051925182	0.00113	T	.	.	.	0.079	0.23065	.	.	0.860418312386	0.85907	0.3534901158262429	0.35263	0.103735805567	0.11741	0.270246207714	0.06172	T	0.018832	0.48430	T	-0.388666	0.02744	T	-0.293824	0.45372	T	0.00591628297152194	0.00065	T	0.908909	0.67748	D	0.0370762	0.04685	0.08642148	0.20022	0.04516105	0.07345	0.08642148	0.20021	-5.007	0.36916	T	0.19867786469457788	0.26316	0.093	0.13830	B	.;.	.;.	1.744282	0.22190	15.52	0.74999565230947007	0.10907	0.65193	0.32656	D	AEFDBI	0.248372	0.36879	N	-0.612444355669082	0.18569	0.9651273	-0.568781412310757	0.20309	1.093619	0.061507942830536	0.15233	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	4.99	0.638	0.16913	1.474000	0.35006	0.653000	0.20435	-0.153000	0.12021	0.812000	0.29879	0.088000	0.22492	0.212000	0.22240	0.0:0.6949:0.2088:0.0963	15.679	0.77111	596	0.68392	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	898.98	38	chr15	45106877	.	G	A	898.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.110e-01;DP=842;ExcessHet=0.0000;FS=5.717;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=-1.409e+00;SOR=0.989	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1478	20	0	1	0
chr15	45111501	45111501	C	T	exonic	DUOX2	.	nonsynonymous SNV	DUOX2:NM_001363711:exon6:c.G598A:p.G200R	Thyroid dyshormonogenesis 6, Autosomal recessive	YES	2	1502	16	2	0	20	0.00661376	.	.	873649	not_provided|Thyroid_dyshormonogenesis_6|Congenital_hypothyroidism|not_specified	MedGen:C3661900|MONDO:MONDO:0011792,MedGen:C1846632,OMIM:607200,Orphanet:95716|Human_Phenotype_Ontology:HP:0000851,MONDO:MONDO:0018612,MedGen:C0010308,Orphanet:442|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.26	T	0.049	B	0.16	B	0.000	D	1.000	D	1.69	L	.	.	-0.879	T	0.208	T	0.245	1.288	10.21	3.2	0.572	1.092	9.93	0.112	0.0870797157534	.	0.00339457	0.0012	0.0036	0	0.0024	0	0.0008	0	0.0013	0.0008837	23	26028	rs2467827	0.0013	0.0013	0.0013	0.0013	0.0059	0.0013	0.0012	0.0041	0.0035	0.0017	0.0008	0.0001	0	0.0001	0.0059	0.0014	0.0015	0.0019	0.0014	0.0015	0.0016	0.0013	0.0018	0.0013	0.0012	0.0014	0.0013	0.0018	0	0.0014	0	0.0002	0	0	0.0016	0.0038	0.0010	0.156	0.24090	T	0.242	0.24264	T	0.049	0.22227	B	0.16	0.34752	B	0.000016	0.62929	D	0.113958	0.999903	0.50806	D	2.275	0.64647	M	-0.87	0.74583	T	-2.32	0.51478	N	0.332	0.37301	-0.8787	0.49864	T	0.208	0.56744	T	9	0.014877588	0.00312	T	0.08708	0.74864	D	0.112	0.31546	0.649	0.78648	0.612346595452	0.60922	0.4636919790857647	0.46288	0.594377940078	0.54754	0.759534358978	0.75861	T	0.022629	0.48754	T	-0.413907	0.01873	T	-0.373492	0.36481	T	0.019811536912779	0.00683	T	0.735926	0.35246	T	0.18022087	0.39132	0.21244237	0.45714	0.2938596	0.52348	0.22583425	0.47540	-5.963	0.45969	T	0.2094615556041622	0.28042	0.091	0.13315	B	.;.	.;.	1.264082	0.16619	12.66	0.95385010851970486	0.26816	0.56262	0.30072	D	AEFDBHCI	0.197320	0.32425	N	-0.862035055079771	0.11755	0.5690544	-0.827023356808017	0.13841	0.720188	0.999930517080511	0.46732	0.497415	0.19182	0	0.59043	0.45803	0	0.608004	0.38603	0	0.530356	0.10902	0	.	.	5.06	3.2	0.35826	1.131000	0.31019	0.661000	0.20504	-0.996000	0.01829	0.000000	0.06391	0.014000	0.20376	0.029000	0.12982	0.0:0.7691:0.0:0.2309	9.93	0.40686	600	0.68026	Dual oxidase, peroxidase domain;Dual oxidase, peroxidase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1964.11	36	chr15	45111501	.	C	T	1964.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.66;DP=786;ExcessHet=0.1072;FS=8.872;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=53.60;MQRankSum=-4.732e+00;QD=17.69;ReadPosRankSum=2.22;SOR=0.862	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1075	19	0	2	0
chr15	45117808	45117808	G	C	exonic	DUOXA1;DUOXA2	.	nonsynonymous SNV	DUOXA2:NM_207581:exon6:c.G862C:p.D288H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.977	D	0.855	P	0.219	N	1.000	N	2.19	M	0.46	T	-0.840	T	0.193	T	.	3.029	16.11	3.39	0.727	0.493	8.505	0.108	0.0281448103578	.	.	1.656e-05	9.722e-05	0	0	0	0	0.0011	0	1.29e-05	2	154602	rs771345227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.314e-05	1.313e-05	0	2.689e-05	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	0.053	0.38863	T	0.128	0.34959	T	0.977	0.58535	D	0.855	0.60933	P	0.218903	0.16186	N	0.664394	1	0.19238	N	2.8	0.81625	M	0.46	0.56281	T	-2.36	0.52128	N	0.132	0.12770	-0.8397	0.52666	T	0.193	0.54579	T	10	0.15257517	0.28817	T	0.028145	0.50866	D	0.222	0.51872	0.446	0.50466	0.360565625551	0.35673	0.7954180628544716	0.79494	0.236504836718	0.26189	.	.	.	0.054879	0.29848	T	-0.146767	0.28819	T	-0.267069	0.48116	T	0.285967737436295	0.24422	T	0.493751	0.15260	T	0.09419208	0.22140	0.16705552	0.38561	0.09419208	0.22139	0.16705552	0.38561	-4.275	0.27825	T	0.1905761142480372	0.24974	0.116	0.23290	B	.	.	2.540372	0.32863	19.17	0.98286621891492543	0.39907	0.29445	0.23823	N	AEFDBCI	0.130924	0.24966	N	-0.579254614565423	0.19575	1.025612	-0.639955475902492	0.18471	0.9868475	0.998642809920106	0.37371	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	5.26	3.39	0.37919	0.559000	0.23190	3.568000	0.39113	0.676000	0.76740	0.002000	0.15269	1.000000	0.68203	0.140000	0.19946	0.1806:0.0:0.8194:0.0	8.505	0.32344	600	0.68026	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	663.98	38	chr15	45117808	.	G	C	663.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.099;DP=843;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.77;ReadPosRankSum=0.784;SOR=0.709	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1284	20	0	1	0
chr15	45134175	45134175	G	A	exonic	DUOX1	.	nonsynonymous SNV	DUOX1:NM_175940:exon4:c.G173A:p.S58N	.	.	425	1086	10	1	0	12	0.00549451	.	.	3185087	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.67	T	0.0	B	0.002	B	0.053	N	1.000	N	-0.77	N	-0.36	T	-1.026	T	0.058	T	0.034	0.847	8.422	1.88	0.785	0.187	8.098	0.107	0.00383113291475	0.0042	0.00459265	0.0050	0.0013	0.0024	0	0.0045	0.0069	0.0063	0.0045	0.0050905	787	154602	rs145196561	0.0068	0.0068	0.0068	0.0069	0.0086	0.0067	0.0067	0.0076	0.0076	0.0013	0.0028	0.0080	0	0.0029	0.0086	0.0078	0.0053	0.0043	0.0045	0.0045	0.0050	0.0041	0.0071	0.0043	0.0041	0.0066	0.0064	0.0015	0.0055	0.0025	0.0095	0	0.0024	0.0102	0.0071	0.0043	0.0058	0.917	0.02327	T	0.868	0.03333	T	0.0	0.02946	B	0.002	0.06944	B	0.053070	0.22840	N	0.504809	0.896334	0.27787	N	-0.61	0.02200	N	-0.36	0.68754	T	-0.46	0.14978	N	0.118	0.10769	-1.0264	0.21625	T	0.058	0.24279	T	10	0.010817796	0.00239	T	0.003831	0.08961	T	0.107	0.30369	.	.	0.645372302287	0.64243	0.22294438598028268	0.22209	0.281783131729	0.30648	0.355418264866	0.18717	T	0.049293	0.28264	T	-0.591187	0.00165	T	-0.612581	0.11776	T	0.00122806972570728	0.00012	T	0.184981	0.01915	T	0.14394163	0.33061	0.10353839	0.24844	0.14394163	0.33061	0.10353839	0.24843	-3.615	0.18074	T	.	.	0.097	0.15743	B	.;.	.;.	1.652418	0.21080	15.04	0.72958639464016994	0.10156	0.66027	0.32937	D	AEFBI	0.212019	0.33775	N	-0.682854551227679	0.16511	0.8418313	-0.471633601843445	0.22940	1.248467	0.993368665271545	0.33186	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	5.01	1.88	0.24630	0.204000	0.17133	1.200000	0.24830	0.676000	0.76740	0.865000	0.30702	0.996000	0.32793	0.978000	0.57271	0.0917:0.4751:0.4332:0.0	8.098	0.29999	616	0.66398	Dual oxidase, peroxidase domain;Dual oxidase, peroxidase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	679.98	37	chr15	45134175	.	G	A	679.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.075e+00;DP=817;ExcessHet=0.0000;FS=4.223;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.82;ReadPosRankSum=-6.690e-01;SOR=0.474	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1291	20	0	1	0
chr15	45135290	45135290	C	T	exonic	DUOX1	.	nonsynonymous SNV	DUOX1:NM_175940:exon5:c.C494T:p.P165L	.	.	6	1501	13	2	0	17	0.005631	0.0002	0.01	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.0	B	0.001	B	0.018	N	1.000	N	-1.06	N	-0.29	T	-1.060	T	0.048	T	0.11	0.802	8.218	-0.711	0.071	1.884	3.530	0.081	.	0.0036	0.0119808	0.0105	0.0151	0.0009	0.0002	0	0.0002	0.0032	0.0545	0.0065394	1011	154602	rs201314048	0.0035	0.0035	0.0021	0.0049	0.0501	0.0034	0.0033	0.0488	0.0483	0.0127	0.0003	0	2.558e-05	0	0.0027	6.945e-05	0.0034	0.0501	0.0047	0.0048	0.0039	0.0056	0.0446	0.0044	0.0043	0.0397	0.0378	0.0116	0	0.0007	0	0	0	0	5.881e-05	0.0038	0.0446	0.304	0.14303	T	0.535	0.09931	T	0.0	0.02946	B	0.001	0.04355	B	0.018262	0.27521	N	0.334485	0.745488	0.29692	N	-1.04	0.01097	N	-0.29	0.67712	T	0.29	0.04161	N	0.29	0.33904	-1.0600	0.11756	T	0.048	0.20672	T	10	0.002321452	0.00034	T	.	.	.	0.081	0.23632	.	.	0.521173705876	0.51762	0.49126523940544053	0.49047	0.306097199594	0.32911	0.403198838234	0.25514	T	0.065711	0.32758	T	-0.559368	0.00256	T	-0.541232	0.18174	T	0.0195847465045476	0.00661	T	0.424758	0.11367	T	0.12910745	0.30164	0.067281365	0.13896	0.12910745	0.30164	0.067281365	0.13896	-2.517	0.05898	T	.	.	0.051	0.00172	B	.;.	.;.	1.336851	0.17426	13.16	0.93366076201998627	0.23108	0.24847	0.22519	N	AEFDBCI	0.104651	0.20933	N	-1.00667812711471	0.08464	0.3969793	-0.846518354240687	0.13371	0.6932852	0.935703769657464	0.27224	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.55	-0.711	0.10664	2.024000	0.40670	0.747000	0.21206	-0.174000	0.10959	1.000000	0.71638	0.999000	0.35428	0.502000	0.29062	0.4733:0.1116:0.0:0.4151	3.530	0.07331	616	0.66398	Dual oxidase, peroxidase domain;Dual oxidase, peroxidase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1619.98	37	chr15	45135290	.	C	T	1619.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.02;DP=867;ExcessHet=0.0000;FS=5.248;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.72;MQRankSum=-5.334e+00;QD=13.73;ReadPosRankSum=-5.610e-01;SOR=1.246	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1420	20	0	1	0
chr15	45148402	45148402	C	T	exonic	DUOX1	.	nonsynonymous SNV	DUOX1:NM_175940:exon21:c.C2773T:p.R925W	.	.	1	1485	34	2	0	38	0.012633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.010	N	1.000	D	1.67	L	-0.36	T	-0.248	T	0.390	T	0.589	3.896	19.81	2.83	1.362	1.452	11.691	0.436	.	0.0014	0.00319489	0.0032	0.0003	0.0008	0	0	0.0024	0.0033	0.0129	0.0029301	453	154602	rs145668427	0.0023	0.0023	0.0018	0.0027	0.0138	0.0022	0.0022	0.0131	0.0129	0.0003	0.0011	0.0045	5.038e-05	0.0003	0.0081	0.0016	0.0024	0.0138	0.0019	0.0019	0.0015	0.0022	0.0129	0.0017	0.0016	0.0103	0.0094	0.0005	0	0.0035	0.0032	0	0	0.0136	0.0019	0.0009	0.0129	0.004	0.68238	D	0.005	0.72224	D	1.0	0.90584	D	0.993	0.81110	D	0.010022	0.30096	N	0.338534	0.999997	0.58761	D	2.295	0.65404	M	-0.36	0.68754	T	-5.37	0.84882	D	0.681	0.69125	-0.2476	0.76424	T	0.390	0.74438	T	10	0.012992173	0.00277	T	.	.	.	0.436	0.74093	.	.	0.90792233723	0.90700	0.726876429450591	0.72631	0.99589291935	0.74233	0.660695314407	0.61509	T	0.563573	0.85432	D	-0.296382	0.09006	T	-0.187478	0.55827	T	0.043791099414861	0.04383	T	0.988918	0.96255	D	0.3405084	0.56320	0.3176283	0.57737	0.3405084	0.56320	0.3176283	0.57736	-11.24	0.80958	D	.	.	0.179	0.39064	B	.;.;.	.;.;.	4.685011	0.75006	26.3	0.99926499286156212	0.99103	0.85381	0.44508	D	AEFDGBI	0.825499	0.74518	D	0.423167992564593	0.62697	4.490105	0.36829184902414	0.59616	4.14108	0.999999853887748	0.74766	0.554377	0.28877	0	0.550933	0.16991	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.9	2.83	0.32150	1.612000	0.36501	0.448000	0.18493	-0.229000	0.07765	1.000000	0.71638	0.992000	0.31684	0.940000	0.48062	0.3221:0.6779:0.0:0.0	11.691	0.50776	616	0.66398	EF-hand domain;EF-hand domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1682.98	41	chr15	45148402	.	C	T	1682.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=980;ExcessHet=0.0000;FS=2.497;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.29;ReadPosRankSum=0.054;SOR=0.884	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr15	45155817	45155817	T	C	exonic	DUOX1	.	nonsynonymous SNV	DUOX1:NM_175940:exon28:c.T3590C:p.V1197A	.	.	5	1515	2	0	0	2	0.000659631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.0	B	0.005	B	0.375	N	0.507	D	0.215	N	-2.83	D	-0.079	T	0.496	T	0.272	2.729	15.08	4.14	1.840	7.801	11.425	0.248	0.0827920283603	.	.	8.236e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs767907268	6.841e-06	6.84e-06	2.723e-06	1.1e-05	2.236e-05	3.46e-06	2.52e-06	2.62e-06	1.68e-06	0	2.236e-05	0	0	0	0	6.295e-06	1.656e-05	1.159e-05	6.575e-06	6.568e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.024	0.47745	D	0.02	0.58613	D	0.0	0.02946	B	0.005	0.11217	B	0.375374	0.13466	N	0.712633	0.50657	0.31785	D	0.785	0.19527	N	-2.83	0.91249	D	-1.61	0.42957	N	0.311	0.35301	-0.0786	0.80584	T	0.496	0.80927	T	10	0.31023526	0.48503	T	0.082792	0.73977	D	0.248	0.55615	0.559	0.67821	0.955887218751	0.95541	0.34809470714972557	0.34723	0.358911236811	0.37593	0.283554911613	0.07993	T	0.288671	0.66146	T	0.0663126	0.60397	T	-0.142523	0.59899	T	0.618920266628265	0.37161	D	0.672333	0.29175	T	0.19410108	0.41147	0.11833664	0.28565	0.19410108	0.41146	0.11833664	0.28564	-5.643	0.43959	T	.	.	0.092	0.14568	B	.;.;.	.;.;.	3.463070	0.48278	22.6	0.98971076254175039	0.49540	0.99612	0.97981	D	AEFDGBI	0.875805	0.79944	D	-0.226708221015987	0.32040	1.802846	-0.0740049987048612	0.36468	2.12274	0.999999996318112	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.658983	0.55881	0	0.631631	0.49550	0	.	.	4.14	4.14	0.47821	7.948000	0.87248	3.531000	0.38953	0.654000	0.53741	1.000000	0.71638	0.570000	0.25566	0.880000	0.42090	0.0:0.0:0.0:1.0	11.425	0.49245	616	0.66398	Ferric reductase transmembrane component-like domain;Ferric reductase transmembrane component-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1676.98	34	chr15	45155817	.	T	C	1676.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.262;DP=864;ExcessHet=0.0000;FS=2.851;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.96;ReadPosRankSum=-2.299e+00;SOR=0.804	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1224	20	0	1	0
chr15	45263950	45263950	G	T	exonic	SLC28A2	.	nonsynonymous SNV	SLC28A2:NM_004212:exon6:c.G516T:p.E172D,	.	.	413	1089	20	0	0	20	0.00909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.165	B	0.115	B	0.000	D	1.000	D	1.87	L	4.66	T	-0.886	T	0.006	T	0.145	4.287	22.4	4.04	0.841	2.689	7.920	0.112	0.00895856816849	0.0042	0.00199681	0.0030	0.0009	0.0010	0	0.0017	0.0039	0	0.0043	0.0030724	475	154602	rs113624548	0.0037	0.0037	0.0037	0.0037	0.0047	0.0037	0.0036	0.0041	0.0041	0.0008	0.0009	3.827e-05	0	0.0016	0.0047	0.0042	0.0035	0.0041	0.0026	0.0026	0.0026	0.0025	0.0044	0.0023	0.0023	0.0039	0.0038	0.0008	0.0121	0.0009	0	0.0004	0.0012	0	0.0044	0.0024	0.0033	0.096	0.58626	T	0.109	0.57104	T	0.165	0.28508	B	0.115	0.31843	B	0.000025	0.55875	D	0.184484	0.999979	0.53665	D	2.53	0.73802	M	4.66	0.58029	T	-2.12	0.49018	N	0.349	0.39052	-0.8862	0.49257	T	0.006	0.01981	T	10	0.009833723	0.00221	T	0.008959	0.23607	T	0.112	0.31546	0.158	0.06178	0.68937278472	0.68670	0.4067162243965829	0.40587	0.0860025168769	0.09718	0.30266046524	0.10798	T	0.033661	0.23005	T	-0.452273	0.01095	T	-0.421619	0.30890	T	0.0228466091390399	0.01005	T	0.89491	0.63503	D	0.17332315	0.38074	0.15508768	0.36369	0.17332315	0.38074	0.15508768	0.36368	-8.327	0.63277	D	.	.	0.175	0.55631	B	.;.	.;.	2.861872	0.37813	20.6	0.99861045185208053	0.93911	0.90850	0.52379	D	AEFGBI	0.535409	0.55404	D	-0.00782973758745723	0.41500	2.483424	0.110874095308859	0.45104	2.779562	0.999976340995865	0.50053	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.9	4.04	0.46262	2.857000	0.48048	2.404000	0.32608	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.2466:0.0:0.7534:0.0	7.920	0.29000	607	0.67291	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1717.11	35	chr15	45263950	.	G	T	1717.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.04;DP=869;ExcessHet=0.1072;FS=4.184;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.26;ReadPosRankSum=0.153;SOR=1.012	GT:AD:DP:GQ:PL	0/1:75,33:108:99:761,0,1893	19	0	2	0
chr15	45265138	45265138	-	A	exonic	SLC28A2	.	frameshift insertion	SLC28A2:NM_004212:exon8:c.753dupA:p.L252Tfs*81,	.	.	414	1106	2	0	0	2	0.000903342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	.	0.0006	0	8.646e-05	0	0.0006	0.0009	0.0011	0.0002	0.0004657	72	154602	rs760268240	0.0006	0.0006	0.0006	0.0006	0.0007	0.0005	0.0005	0.0006	0.0006	2.994e-05	0.0002	0	0	0.0005	0.0002	0.0007	0.0004	0.0003	0.0004	0.0004	0.0004	0.0005	0.0007	0.0004	0.0003	0.0004	0.0004	0.0002	0	0.0007	0	0	0.0008	0.0034	0.0006	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2196.94	130	chr15	45265138	.	C	CA	2196.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.357e+00;DP=824;ExcessHet=0.0000;FS=1.379;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.90;ReadPosRankSum=-3.850e-01;SOR=0.572	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	20	0	1	0
chr15	45659026	45659026	G	A	exonic	SQOR	.	nonsynonymous SNV	SQOR:NM_021199:exon2:c.G103A:p.G35R	.	.	432	1086	3	1	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.701	P	0.142	B	0.000	D	0.973	D	0.55	N	0.91	T	-1.068	T	0.058	T	0.404	2.154	13.16	5.5	2.580	1.907	11.456	0.191	.	7.7e-05	0.00359425	0.0028	0.0003	0.0005	0.0002	0	0.0001	0	0.0158	0.0014359	222	154602	rs142428650	0.0007	0.0007	0.0004	0.0009	0.0101	0.0006	0.0006	0.0095	0.0093	6e-05	9.394e-05	0.0004	2.549e-05	0	0.0009	3.887e-05	0.0007	0.0101	0.0005	0.0005	0.0003	0.0007	0.0120	0.0004	0.0004	0.0096	0.0087	0.0002	0	0.0001	0	0.0002	0	0	5.882e-05	0.0009	0.0120	0.039	0.43393	D	0.063	0.92824	T	0.701	0.41872	P	0.142	0.33681	B	0.000004	0.62929	D	0.142243	0.972536	0.38954	D	.	.	.	0.89	0.45636	T	-0.88	0.96142	N	0.307	0.34767	-1.0684	0.09768	T	0.058	0.24317	T	10	0.0046650767	0.00098	T	.	.	.	0.191	0.46948	0.487	0.57098	0.482137172311	0.47843	0.6805469100236138	0.67993	0.0731652301951	0.08203	0.536803841591	0.43994	T	0.117747	0.43806	T	-0.455375	0.01049	T	-0.417496	0.31363	T	0.0145089088070512	0.00296	T	0.80172	0.44782	T	0.06325829	0.13300	0.10818555	0.26057	0.06325829	0.13300	0.10818555	0.26057	-5.378	0.40707	T	.	.	0.173	0.45665	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.339502	0.29980	18.29	0.99636917953330584	0.76387	0.81866	0.41186	D	AEFBI	0.242396	0.36386	N	-0.166520531791348	0.34533	1.972327	-0.108939351564899	0.35028	2.021757	0.999993427928398	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.5	5.5	0.81386	1.971000	0.40154	5.221000	0.47999	0.676000	0.76740	0.970000	0.34288	1.000000	0.68203	0.016000	0.10718	0.0826:0.0:0.9174:0.0	11.456	0.49430	337	0.86119	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	606.98	34	chr15	45659026	.	G	A	606.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.82;DP=769;ExcessHet=0.0000;FS=2.356;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.12;ReadPosRankSum=-1.935e+00;SOR=1.128	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1166	20	0	1	0
chr15	47763853	47763853	G	A	exonic	SEMA6D	.	nonsynonymous SNV	SEMA6D:NM_001358351:exon10:c.G751A:p.V251M	.	.	432	1079	10	1	0	12	0.00552995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.975	D	0.000	D	1.000	D	2.175	M	2.66	T	-1.013	T	0.101	T	0.82	4.514	24.3	4.93	1.452	6.757	16.815	0.315	0.0135466094741	0.0002	.	0.0004	0.0005	0.0006	0	0	0.0004	0	0.0002	0.0003881	60	154602	rs151039709	0.0003	0.0003	0.0002	0.0003	0.0062	0.0003	0.0003	0.0045	0.0039	0.0005	0.0008	0.0008	0	0	0.0062	0.0002	0.0004	0.0005	0.0004	0.0004	0.0004	0.0004	0.0011	0.0003	0.0003	0.0007	0.0006	0.0004	0	0.0011	0.0009	0.0002	0	0	0.0003	0.0009	0.0002	0.044	0.47320	D	0.056	0.52727	T	1.0	0.90584	D	0.975	0.73362	D	0.000005	0.62929	D	0.105633	1	0.81001	D	2.26	0.64354	M	2.66	0.12575	T	-1.77	0.44284	N	0.692	0.75834	-1.0126	0.26101	T	0.101	0.37316	T	10	0.37446675	0.53725	T	0.013547	0.33038	T	0.315	0.63694	.	.	0.20808081866	0.20439	0.43185001481625596	0.43102	1.12731222335	0.78490	0.830019831657	0.86565	D	0.092038	0.38921	T	-0.186636	0.22754	T	-0.140567	0.60069	T	0.0530199557542801	0.06023	T	0.942906	0.79230	D	0.22639838	0.45320	0.26814353	0.52680	0.22639838	0.45320	0.26814353	0.52679	-8.997	0.69431	D	.	.	0.221	0.47116	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.815712	0.78386	26.9	0.99896514871766373	0.96971	0.97589	0.75744	D	AEFBI	0.839830	0.75720	D	0.683295089445397	0.78538	6.891888	0.650340823655489	0.78636	6.916226	0.999999988290198	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.87	4.93	0.64394	6.876000	0.75358	9.965000	0.82823	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.747000	0.35681	0.0:0.1288:0.8712:0.0	16.815	0.85596	767	0.49651	.;Sema domain|Sema domain|Sema domain;.;.;.;Sema domain|Sema domain|Sema domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	950.98	33	chr15	47763853	.	G	A	950.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.984e+00;DP=771;ExcessHet=0.0000;FS=3.173;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=-4.300e-01;SOR=0.384	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1048	20	0	1	0
chr15	47765934	47765934	C	T	exonic	SEMA6D	.	nonsynonymous SNV	SEMA6D:NM_001358351:exon14:c.C1493T:p.A498V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.907	P	0.767	P	0.000	N	1.000	D	1.725	L	1.99	T	-1.087	T	0.093	T	0.289	2.780	15.26	4.77	1.406	3.334	14.381	0.068	0.0134984214484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.37536	T	0.038	0.52727	D	0.907	0.50062	P	0.767	0.56720	P	0.000096	0.51296	N	0.201794	0.999326	0.47795	D	1.69	0.43327	L	1.99	0.21666	T	-2.65	0.57275	D	0.334	0.37509	-1.0867	0.06102	T	0.093	0.35255	T	10	0.25697744	0.43108	T	0.013498	0.32951	T	0.068	0.19811	0.419	0.46036	0.043077524339	0.03247	0.4742032582102288	0.47339	0.0773626685617	0.08700	0.301886856556	0.10682	T	0.333408	0.70326	T	-0.157166	0.27196	T	-0.463534	0.26216	T	0.949325680732727	0.63089	D	0.89931	0.64723	D	0.18057315	0.39185	0.17059931	0.39180	0.18057315	0.39185	0.17059931	0.39180	-9.83	0.73576	D	.	.	0.131	0.28778	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.725450	0.35659	19.96	0.99788615274999259	0.87484	0.92733	0.56413	D	AEFGBI	0.531966	0.55202	D	0.13009091673262	0.47870	3.006805	0.128850659411191	0.46030	2.855893	0.999999326366536	0.74766	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.68	4.77	0.60425	3.407000	0.52394	4.044000	0.41450	0.599000	0.40250	0.997000	0.40164	0.999000	0.35428	0.969000	0.54022	0.0:0.9293:0.0:0.0707	14.381	0.66476	755	0.51144	.;Sema domain;.;.;Sema domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1087.98	33	chr15	47765934	.	C	T	1087.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.040e-01;DP=939;ExcessHet=0.0000;FS=1.662;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=1.22;SOR=0.872	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr15	48141130	48141130	C	A	exonic	SLC24A5	.	nonsynonymous SNV	SLC24A5:NM_205850:exon8:c.C1096A:p.P366T,	Albinism, oculocutaneous, type VI, Autosomal recessive	.	421	1100	1	0	0	1	0.000454339	.	.	1892307	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.999	D	0.000	D	1.000	D	3.32	M	-0.05	T	0.199	D	0.560	D	0.932	4.726	26.3	5.78	2.894	7.358	20.367	0.566	0.0639862753667	0.0002	.	0.0002	0	0	0	0	0.0002	0	0.0012	0.0002329	36	154602	rs147788058	0.0003	0.0003	0.0003	0.0003	0.0014	0.0003	0.0003	0.0012	0.0011	0	2.237e-05	0	0	0	0.0003	0.0003	0.0002	0.0014	0.0002	0.0002	8.998e-05	0.0002	0.0015	0.0001	9.239e-05	0.0007	0.0005	0	0	0	0	0	0	0	0.0002	0	0.0015	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.3	0.90472	M	-0.05	0.63403	T	-7.82	0.95977	D	0.928	0.94904	0.199	0.85898	D	0.560	0.83994	D	10	0.62241805	0.68053	D	0.063986	0.69136	D	0.566	0.82289	.	.	0.914126891962	0.91326	0.9182716371250894	0.91803	0.42405282143	0.42844	0.631505846977	0.57359	T	0.765378	0.93678	D	0.0761733	0.61590	D	0.296108	0.88019	D	0.712616562843323	0.41329	D	0.843016	0.51993	T	0.86288536	0.88305	0.8965776	0.94733	0.86288536	0.88307	0.8965776	0.94734	-10.015	0.75969	D	0.5500690276727405	0.61877	0.433	0.63085	A	.;.	.;.	5.059321	0.84316	28.3	0.99689782885345124	0.79842	0.99670	0.98521	D	AEFI	0.932224	0.92226	D	0.998093092822973	0.95685	13.86129	0.946399583785166	0.97295	15.89282	0.999999999649299	0.74766	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.78	5.78	0.91418	7.415000	0.79344	7.598000	0.61467	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.367	0.98884	837	0.37933	Sodium/calcium exchanger membrane region;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	466.98	33	chr15	48141130	.	C	A	466.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.646;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.448;SOR=0.671	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1059	20	0	1	0
chr15	48456748	48456748	G	A	exonic	FBN1	.	nonsynonymous SNV	FBN1:NM_000138:exon44:c.C5311T:p.R1771W,	Acromicric dysplasia, Autosomal dominant;Ectopia lentis, familial, Autosomal dominant;Geleophysic dysplasia 2, Autosomal dominant;MASS syndrome;Marfan lipodystrophy syndrome, Autosomal dominant;Marfan syndrome, Autosomal dominant;Stiff skin syndrome, Autosomal dominant;Weill-Marchesani syndrome 2, dominant, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	912788	Marfan_syndrome|Ectopia_lentis_1,_isolated,_autosomal_dominant|Stiff_skin_syndrome|Progeroid_and_marfanoid_aspect-lipodystrophy_syndrome|Acromicric_dysplasia|MASS_syndrome|Weill-Marchesani_syndrome_2,_dominant|Geleophysic_dysplasia_2|Familial_thoracic_aortic_aneurysm_and_aortic_dissection	MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700,Orphanet:284963,Orphanet:558|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600,Orphanet:1885|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900,Orphanet:2833|MONDO:MONDO:0014831,MedGen:C4310796,OMIM:616914,Orphanet:300382|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370,Orphanet:969|MONDO:MONDO:0011431,MedGen:C1858556,OMIM:604308,Orphanet:99715|MONDO:MONDO:0012013,MedGen:C1869115,OMIM:608328,Orphanet:2084|MONDO:MONDO:0013612,MedGen:C3280054,OMIM:614185,Orphanet:2623|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.912	D	0.000	D	1.000	D	1.07	L	-3.05	D	0.621	D	0.765	D	0.794	3.760	19.09	5.8	2.735	1.809	13.567	0.646	0.104405308129	.	.	1.654e-05	0	0	0	0.0002	1.504e-05	0	0	1.29e-05	2	154602	rs767884599	1.984e-05	1.984e-05	2.179e-05	1.788e-05	2.988e-05	1.392e-05	1.204e-05	1.378e-05	1.151e-05	2.988e-05	0	0	0	1.876e-05	0	2.069e-05	4.97e-05	1.159e-05	2.633e-05	2.628e-05	2.572e-05	2.697e-05	4.838e-05	8.15e-06	5.15e-06	8.02e-06	3e-06	4.838e-05	0	0	0	0	0	0	2.941e-05	0	0	0.013	0.53900	D	0.017	0.60337	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999974	0.53665	D	.	.	.	-3.05	0.92407	D	-3.69	0.70432	D	0.556	0.58117	0.621	0.92169	D	0.765	0.92016	D	10	0.6586945	0.70025	D	0.104405	0.77897	D	0.646	0.86586	0.514	0.61307	0.863254363944	0.86192	.	.	1.42932621729	0.85777	0.879084587097	0.93836	D	.	.	.	0.261251	0.79646	D	0.152979	0.80373	D	0.95329338312149	0.63993	D	0.976302	0.91743	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	0.56806	A	.	.	5.530878	0.91870	32	0.9991342609321564	0.98238	0.93937	0.59625	D	AEFBI	0.809153	0.73274	D	0.563843613362075	0.70929	5.574283	0.599325949044525	0.74891	6.214961	0.999994795415015	0.74766	0.706548	0.73137	0	0.708844	0.79440	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	2.273000	0.43041	5.948000	0.51598	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.7428:0.2572	13.567	0.61289	386	0.83455	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2272.98	43	chr15	48456748	.	G	A	2272.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.406;DP=898;ExcessHet=0.0000;FS=2.106;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.57;ReadPosRankSum=-1.620e-01;SOR=0.527	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1327	20	0	1	0
chr15	48520811	48520811	C	T	exonic	FBN1	.	nonsynonymous SNV	FBN1:NM_000138:exon10:c.G995A:p.R332H,	Acromicric dysplasia, Autosomal dominant;Ectopia lentis, familial, Autosomal dominant;Geleophysic dysplasia 2, Autosomal dominant;MASS syndrome;Marfan lipodystrophy syndrome, Autosomal dominant;Marfan syndrome, Autosomal dominant;Stiff skin syndrome, Autosomal dominant;Weill-Marchesani syndrome 2, dominant, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	1472171	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Marfan_syndrome	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700,Orphanet:284963,Orphanet:558	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	0.167	B	0.018	B	0.000	D	1.000	D	1.79	L	-3.16	D	0.317	D	0.745	D	0.428	4.287	22.4	5.65	2.941	5.682	19.914	0.459	0.102967309227	.	.	1.649e-05	0	0	0	0	1.5e-05	0	6.066e-05	1.29e-05	2	154602	rs748929044	2.189e-05	2.189e-05	2.586e-05	1.788e-05	8.116e-05	1.584e-05	1.356e-05	3.765e-05	2.662e-05	0	0	0	0	0	0	2.158e-05	1.656e-05	8.116e-05	6.575e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.05	0.39575	D	0.028	0.54934	D	.	.	.	.	.	.	0.000001	0.62929	D	0.102090	1	0.81001	D	.	.	.	-3.16	0.92996	D	-3.78	0.71519	D	0.435	0.47395	0.317	0.87822	D	0.745	0.91309	D	10	0.43720043	0.57870	T	0.102967	0.77674	D	0.459	0.75687	.	.	0.729498838671	0.72709	.	.	1.50559008858	0.87129	0.691678524017	0.65947	T	.	.	.	0.0803622	0.62083	D	-0.0254877	0.68667	D	0.876788914203644	0.52667	D	0.960504	0.85148	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.50609	B	.	.	5.442819	0.90959	32	0.99876483193388688	0.95328	0.96417	0.69036	D	ALL	0.798760	0.72522	D	0.239037407595599	0.53098	3.480389	0.400893849214677	0.61621	4.364747	0.999999999999998	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.650271	0.49498	0	0.735409	0.98432	0	.	.	5.65	5.65	0.86881	5.937000	0.69877	7.637000	0.63009	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	19.914	0.97044	635	0.64580	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1039.98	36	chr15	48520811	.	C	T	1039.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.473;DP=797;ExcessHet=0.0000;FS=0.786;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=0.584;SOR=0.586	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1132	20	0	1	0
chr15	48784114	48784114	T	C	exonic	CEP152	.	nonsynonymous SNV	CEP152:NM_001194998:exon10:c.A1180G:p.I394V	Microcephaly 9, primary, autosomal recessive, Autosomal recessive;Seckel syndrome 5, Autosomal recessive	.	2	1506	14	0	0	14	0.00462657	.	.	169168	Microcephaly_9,_primary,_autosomal_recessive|CEP152-related_disorder|not_provided|Seckel_syndrome_5|not_specified	MONDO:MONDO:0013923,MedGen:C3553886,OMIM:614852,Orphanet:2512|MedGen:CN239248|MedGen:C3661900|MONDO:MONDO:0013443,MedGen:C3151187,OMIM:613823,Orphanet:808|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.018	B	0.007	B	0.057	N	1.000	N	1.05	L	-1.13	T	-0.966	T	0.168	T	0.07	-0.644	1.159	-1.79	-0.233	-0.235	0.303	0.115	0.0146603056174	0.0026	0.00119808	0.0025	0.0005	0.0021	0.0001	0.0005	0.0037	0.0012	0.0013	0.002238	346	154602	rs181295720	0.0029	0.0029	0.0028	0.0030	0.0078	0.0028	0.0028	0.0060	0.0054	0.0005	0.0022	0.0077	2.521e-05	0.0002	0.0078	0.0032	0.0034	0.0018	0.0021	0.0021	0.0022	0.0020	0.0032	0.0019	0.0018	0.0028	0.0027	0.0008	0	0.0024	0.0058	0.0002	0.0003	0.0034	0.0032	0.0033	0.0006	0.293	0.15458	T	0.224	0.25591	T	0.018	0.17786	B	0.005	0.11217	B	0.057372	0.22486	N	0.475067	0.999949	0.19238	N	0.82	0.20857	L	-1.13	0.77719	T	-0.06	0.10480	N	0.1	0.10626	-0.9661	0.37994	T	0.168	0.50810	T	10	0.0050874054	0.00110	T	0.01466	0.34921	T	0.115	0.32236	.	.	0.522664700966	0.51911	0.01812364532612605	0.01766	0.0548285271129	0.06069	0.27352976799	0.06606	T	0.00365	0.03060	T	-0.510894	0.00496	T	-0.509062	0.21412	T	0.00124863064896183	0.00012	T	0.538946	0.18179	T	0.015520716	0.00143	0.021870522	0.00225	0.01575336	0.00156	0.025765443	0.00633	-3.654	0.21553	T	0.16547279795631945	0.20515	0.079	0.07083	B	.;.;.	.;.;.	0.796378	0.11666	8.252	0.58992043625958013	0.06120	0.10870	0.16249	N	AEFBI	0.063014	0.12150	N	-1.50543333649249	0.01814	0.07950455	-1.5000994802889	0.02344	0.107669	0.628981633488429	0.21951	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.35	-1.79	0.07504	-0.257000	0.08765	-0.299000	0.10130	-0.718000	0.03832	0.002000	0.15269	0.000000	0.08366	0.762000	0.36218	0.2147:0.2372:0.202:0.346	0.303	0.00256	261	0.89765	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	801.98	33	chr15	48784114	.	T	C	801.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.796;DP=763;ExcessHet=0.0000;FS=2.108;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=0.00;SOR=1.056	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1199	20	0	1	0
chr15	48843451	48843451	G	C	exonic	SHC4	.	nonsynonymous SNV	SHC4:NM_203349:exon10:c.C1441G:p.Q481E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.115	B	0.086	B	0.085	N	1.000	N	0.895	L	3.57	T	-1.046	T	0.053	T	0.289	0.974	8.977	5.0	2.591	1.475	13.345	0.048	0.00506380552288	.	.	8.248e-06	9.612e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs762053961	2.052e-06	2.052e-06	2.723e-06	1.375e-06	5.975e-05	5.5e-07	1.5e-07	9.9e-06	3.7e-06	5.975e-05	0	0	0	0	0	0	1.656e-05	0	6.572e-06	6.566e-06	0	1.345e-05	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.503	0.09209	T	1.0	0.01155	T	0.016	0.26429	B	0.024	0.29521	B	0.084939	0.20669	N	0.438805	1	0.08975	N	1.59	0.40313	L	3.57	0.29342	T	-0.33	0.14193	N	0.194	0.29889	-1.0461	0.15505	T	0.053	0.22462	T	10	0.07437709	0.11362	T	0.005064	0.12815	T	0.048	0.13305	0.234	0.16305	0.427368086475	0.42351	0.24465190171238133	0.24379	0.155766135501	0.17579	0.31767642498	0.13068	T	0.074686	0.43603	T	-0.335537	0.05704	T	-0.538224	0.18472	T	0.119738021707469	0.14405	T	0.763424	0.38984	T	0.09783444	0.23067	0.11468611	0.27685	0.09783444	0.23067	0.11468611	0.27684	-3.925	0.22738	T	.	.	0.067	0.05800	B	.;.;.	.;.;.	1.072704	0.14550	11.12	0.35930082614591474	0.02283	0.16733	0.19524	N	AEFI	0.146615	0.27011	N	-0.587456672638184	0.19325	1.01049	-0.509461220099322	0.21896	1.186688	0.456176183539183	0.20584	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.0	5.0	0.66209	1.077000	0.30353	7.315000	0.58141	0.676000	0.76740	0.003000	0.16062	1.000000	0.68203	0.204000	0.22012	0.0:0.0:0.8433:0.1567	13.345	0.60005	255	0.89985	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	603.98	34	chr15	48843451	.	G	C	603.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.291e+00;DP=738;ExcessHet=0.0000;FS=2.578;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.58;ReadPosRankSum=0.681;SOR=0.340	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1123	20	0	1	0
chr15	48890768	48890768	C	T	exonic	SHC4	.	nonsynonymous SNV	SHC4:NM_203349:exon3:c.G700A:p.G234R,	.	.	.	.	.	.	.	.	.	.	.	2676611	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.864	P	0.784	P	0.000	D	1.000	D	2.36	M	2.46	T	-1.034	T	0.116	T	0.686	4.726	26.3	5.39	2.814	4.192	19.34	0.184	0.0215869082054	0.0004	0.000399361	5.766e-05	0.0005	8.637e-05	0	0	1.498e-05	0	0	7.12e-05	11	154602	rs149221308	4.72e-05	4.72e-05	4.084e-05	5.363e-05	0.0015	3.794e-05	3.476e-05	0.0012	0.0010	0.0015	0	0	0	0	0	0	0.0003	2.319e-05	0.0005	0.0005	0.0004	0.0006	0.0017	0.0004	0.0004	0.0014	0.0013	0.0017	0	6.539e-05	0	0	0	0	0	0	0	0.022	0.48642	D	0.033	0.53072	D	0.864	0.47514	P	0.784	0.57456	P	0.000001	0.84330	D	0.000000	0.999922	0.51308	D	1.995	0.54099	M	2.46	0.14907	T	-5.35	0.84742	D	0.659	0.66873	-1.0341	0.19141	T	0.116	0.40942	T	10	0.32067674	0.49440	T	0.021587	0.44379	T	0.184	0.45763	0.542	0.65446	0.696367886986	0.69375	0.42814666691527975	0.42731	0.253272488002	0.27901	0.608705937862	0.54133	T	0.290117	0.66290	T	-0.303505	0.08332	T	-0.249274	0.49888	T	0.323841763195842	0.25977	T	0.905509	0.66687	D	0.6343421	0.74530	0.7391795	0.84583	0.6343421	0.74531	0.7391795	0.84584	-8.628	0.65274	D	.	.	0.228	0.46085	B	.	.	4.321248	0.66132	24.9	0.99940301954594268	0.99767	0.95949	0.66854	D	AEFGBI	0.654074	0.62689	D	0.676165536215076	0.78071	6.79825	0.674881879044124	0.80476	7.307271	0.99999999998465	0.74766	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.39	5.39	0.77615	4.317000	0.58976	4.715000	0.44476	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	19.34	0.94325	344	0.85734	PTB/PI domain|Phosphotyrosine interaction  domain, Shc-like|PTB/PI domain|PTB/PI domain|Phosphotyrosine interaction  domain, Shc-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1024.98	33	chr15	48890768	.	C	T	1024.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.285;DP=763;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=0.473;SOR=0.646	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1219	20	0	1	0
chr15	48992287	48992287	T	C	exonic	SECISBP2L	.	nonsynonymous SNV	SECISBP2L:NM_014701:exon17:c.A3128G:p.N1043S	.	.	421	1100	1	0	0	1	0.000454339	.	.	2355026	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.62	T	0.0	B	0.0	B	0.396	N	1.000	N	0.345	N	-0.61	T	-0.982	T	0.107	T	0.024	-1.605	0.014	-8.41	-1.699	-0.469	6.110	0.079	0.0138710660462	0.0004	.	0.0001	0.0008	0.0002	0	0	6.021e-05	0	6.275e-05	0.0001423	22	154602	rs145854377	8.218e-05	8.209e-05	7.768e-05	8.672e-05	0.0026	7.009e-05	6.559e-05	0.0016	0.0013	0.0012	4.535e-05	0	0	0	0.0026	4.498e-05	0.0002	0	0.0003	0.0003	0.0003	0.0003	0.0009	0.0003	0.0002	0.0007	0.0006	0.0009	0	0	0	0	0	0.0068	0.0001	0.0005	0	0.338	0.12796	T	0.194	0.29153	T	0.0	0.02946	B	0.0	0.01387	B	0.395935	0.13190	N	0.703897	1	0.08975	N	0.255	0.09829	N	-0.62	0.71895	T	-0.37	0.13226	N	0.057	0.06720	-0.9823	0.34468	T	0.107	0.39027	T	10	0.016802818	0.00356	T	0.013871	0.33594	T	0.079	0.23065	.	.	0.210429274316	0.20668	0.19185748753039714	0.19103	0.165552891	0.18672	0.303120076656	0.10867	T	0.007557	0.06959	T	-0.543935	0.00317	T	-0.646837	0.09177	T	0.010538394200262	0.00146	T	0.69713	0.30670	T	0.013053542	0.00048	0.017225293	0.00028	0.013053542	0.00048	0.017225293	0.00028	-2.055	0.03706	T	.	.	0.065	0.02012	B	.;.	.;.	-0.915258	0.00900	0.033	0.37949500490053634	0.02531	0.15252	0.18820	N	AEFBCI	0.031709	0.03443	N	-1.79723563953983	0.00552	0.02376389	-1.86698415606245	0.00568	0.02519615	0.999997930202128	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.18	-8.41	0.00840	-0.454000	0.06845	-2.310000	0.03917	-0.731000	0.03728	0.000000	0.06391	0.000000	0.08366	0.072000	0.16771	0.0976:0.4686:0.1003:0.3335	6.110	0.19315	716	0.55970	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	968.98	60	chr15	48992287	.	T	C	968.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.368e+00;DP=1005;ExcessHet=0.0000;FS=3.300;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=1.02;SOR=0.397	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1620	20	0	1	0
chr15	49046296	49046296	C	A	exonic	SECISBP2L	.	nonsynonymous SNV	SECISBP2L:NM_001193489:exon1:c.G4T:p.D2Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.996	D	0.026	N	0.953	D	0.345	N	-0.92	T	-0.180	T	0.379	T	0.686	4.162	21.5	4.77	2.635	3.075	13.466	0.341	0.481999294411	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1039939220	1.427e-06	4.104e-06	0	2.887e-06	1.846e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.846e-06	0	0	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.023	0.57587	D	0.999	0.90584	D	0.99	0.84481	D	0.025939	0.26005	N	0.382752	0.952537	0.37789	D	0.895	0.22405	L	-0.89	0.75108	T	-1.39	0.53096	N	0.441	0.49511	-0.1805	0.78167	T	0.379	0.73640	T	10	0.40353397	0.55734	T	0.481999	0.94857	D	0.341	0.66297	0.388	0.40951	0.626772065779	0.62373	0.4213176109249252	0.42047	0.703111009404	0.61248	0.854027986526	0.90221	D	0.024155	0.30598	T	0.147093	0.68995	D	-0.0264874	0.68601	D	0.956550598144531	0.64786	D	0.60264	0.22576	T	0.3171522	0.54398	0.43887258	0.67258	0.3171522	0.54398	0.43887258	0.67258	-6.547	0.50648	T	.	.	0.394	0.64862	A	.;.;.	.;.;.	3.670177	0.52182	23.2	0.99061736746898432	0.51505	0.37782	0.25839	N	ALL	0.262709	0.38040	N	0.444190135372109	0.63873	4.629789	0.456814916590923	0.65158	4.788322	0.999999999919995	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	4.77	4.77	0.60425	3.111000	0.50053	7.060000	0.57403	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.689000	0.33808	0.0:1.0:0.0:0.0	13.466	0.60709	460	0.78750	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	335.98	34	chr15	49046296	.	C	A	335.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.35;DP=699;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.33;ReadPosRankSum=0.749;SOR=0.735	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1040	20	0	1	0
chr15	49367607	49367607	G	A	exonic	FAM227B	.	nonsynonymous SNV	FAM227B:NM_152647:exon13:c.C1112T:p.S371L,	.	.	448	1066	8	0	0	8	0.00373832	0.9765	0.864	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.42	M	.	.	-0.052	T	0.457	T	0.849	4.545	24.6	5.16	2.699	3.809	17.595	0.503	.	.	0.00179712	0.0022	9.841e-05	0.0006	0.0002	0	4.566e-05	0.0034	0.0152	0.001824	282	154602	rs200898126	0.0009	0.0010	0.0005	0.0013	0.0153	0.0008	0.0008	0.0146	0.0143	3.457e-05	0.0003	4.15e-05	5.595e-05	0	0.0011	5.402e-05	0.0007	0.0153	0.0004	0.0004	0.0002	0.0007	0.0118	0.0003	0.0003	0.0094	0.0085	2.407e-05	0	0.0001	0	0.0002	0	0	2.942e-05	0	0.0118	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000163	0.48594	D	0.000000	0.986868	0.40498	D	2.33	0.66821	M	.	.	.	-3.58	0.69118	D	0.787	0.78356	-0.0517	0.81170	T	0.457	0.78843	T	9	0.009779274	0.00220	T	.	.	.	0.503	0.78538	0.424	0.46857	0.185906805712	0.18197	0.4293047696005406	0.42847	0.185966617838	0.20903	0.41606926918	0.27295	T	0.216017	0.57806	T	-0.027462	0.47785	T	0.20075	0.83169	D	0.0990580898032136	0.12254	T	0.659534	0.26859	T	0.49715778	0.66927	0.43086883	0.66723	0.49715778	0.66928	0.43086883	0.66723	-2.429	0.05314	T	.	.	0.620	0.69682	P	.	.	4.355123	0.66921	25.0	0.99885858538852168	0.96126	0.90997	0.52660	D	AEFI	0.676142	0.64128	D	0.620921492295187	0.74499	6.143173	0.531288507135814	0.70108	5.456708	0.969142100567708	0.29106	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.16	5.16	0.70563	4.458000	0.59832	7.296000	0.58072	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.084000	0.17470	0.0:0.0:1.0:0.0	17.595	0.87907	409	0.82198	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1210.11	21	chr15	49367607	.	G	A	1210.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.20;DP=696;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=0.209;SOR=0.787	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1109	19	0	2	0
chr15	49575010	49575010	C	A	splicing	FAM227B	NM_152647:exon8:c.645+1G>T;NM_001330293:exon8:c.645+1G>T	.	.	.	.	.	.	.	.	.	.	.	0.9999	0.782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.029	9.204	4.73	2.473	4.135	14.743	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1263123023	2.858e-06	6.844e-06	1.426e-06	4.296e-06	3.737e-06	6.7e-07	4.5e-07	8.8e-07	5.9e-07	0	0	0	0	0	0	3.737e-06	0	0	1.316e-05	1.314e-05	2.573e-05	0	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185459	0.72544	D	0.0286226	0.72188	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.211148	0.63621	24.6	0.98417744408023722	0.41244	0.89014	0.49232	D	AEFI	.	.	.	0.861113205350677	0.89732	10.094	0.642340953352197	0.78042	6.797168	0.433826154236561	0.20395	0.074636	0.01641	0	0.084543	0.02171	0	0.060301	0.00762	0	0.101684	0.03063	0	0.950727	0.62029	4.73	4.73	0.59485	2.867000	0.48126	5.795000	0.49897	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.080000	0.17246	0.0:1.0:0.0:0.0	14.743	0.69084	269	0.89438	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	277.98	33	chr15	49575010	.	C	A	277.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=648;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=-4.270e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,971	20	0	1	0
chr15	49897369	49897369	A	G	exonic	ATP8B4	.	nonsynonymous SNV	ATP8B4:NM_024837:exon23:c.T2620C:p.C874R,	.	.	434	1062	26	0	0	26	0.012093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.0	B	0.001	B	0.002	N	1.000	D	0.69	N	-0.46	T	-1.050	T	0.093	T	0.428	-0.474	1.814	0.616	-0.135	0.139	8.820	0.251	.	0.0063	0.00459265	0.0057	0.0107	0.0036	0	0.0009	0.0048	0.0066	0.0123	0.0053233	823	154602	rs74012834	0.0051	0.0051	0.0048	0.0053	0.0172	0.0050	0.0049	0.0144	0.0134	0.0113	0.0033	0.0141	2.519e-05	0.0011	0.0172	0.0044	0.0066	0.0126	0.0062	0.0062	0.0063	0.0061	0.0122	0.0058	0.0057	0.0098	0.0095	0.0107	0.0033	0.0033	0.0173	0	0.0006	0.0204	0.0044	0.0057	0.0122	0.743	0.03663	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.002321	0.36806	N	0.297818	0.999992	0.58761	D	-0.24	0.03895	N	-0.46	0.70014	T	-2.3	0.51157	N	0.494	0.54147	-1.0498	0.14453	T	0.093	0.35498	T	10	0.0073461235	0.00167	T	.	.	.	0.251	0.56024	.	.	0.474876406573	0.47116	0.7498061658044117	0.74927	0.0839836201128	0.09469	0.611285686493	0.54498	T	0.002077	0.01480	T	-0.441836	0.01261	T	-0.397056	0.33727	T	0.00396578209425917	0.00042	T	0.541546	0.18382	T	0.32305837	0.54897	0.31807154	0.57777	0.32305837	0.54897	0.31807154	0.57776	-4.519	0.31136	T	.	.	0.160	0.37024	B	.;.	.;.	1.190218	0.15813	12.12	0.54972148563145007	0.05246	0.18959	0.20471	N	AEFGI	0.226863	0.35075	N	-0.800004472418187	0.13311	0.6547919	-0.688715170324367	0.17242	0.9159305	0.997071151456392	0.35252	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.6	0.616	0.16789	0.137000	0.15816	1.461000	0.26681	0.756000	0.94297	0.005000	0.17040	0.877000	0.27660	0.997000	0.79791	0.6935:0.0:0.3065:0.0	8.820	0.34182	386	0.83455	P-type ATPase, C-terminal;P-type ATPase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	903.98	38	chr15	49897369	.	A	G	903.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=787;ExcessHet=0.0000;FS=4.500;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=-4.200e-01;SOR=1.328	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1162	20	0	1	0
chr15	50182846	50182846	C	T	exonic	SLC27A2	.	nonsynonymous SNV	SLC27A2:NM_001159629:exon1:c.C419T:p.A140V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.709	P	0.244	B	0.223	N	1.000	N	2.455	M	0.88	T	-0.959	T	0.127	T	0.126	2.765	15.21	1.31	0.176	0.665	13.601	0.176	0.0108942457147	.	.	2.49e-05	0	0	0	0	4.531e-05	0	0	1.94e-05	3	154602	rs776085924	8.898e-06	8.893e-06	8.173e-06	9.631e-06	1.169e-05	4.97e-06	3.83e-06	6.52e-06	5.03e-06	0	0	0	0	0	0	1.169e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.46513	T	0.089	0.41074	T	0.709	0.42056	P	0.244	0.38795	B	0.222750	0.16100	N	0.608600	1	0.08975	N	2.365	0.68172	M	0.88	0.46028	T	-2.34	0.53736	N	0.192	0.34981	-0.9594	0.39293	T	0.127	0.43442	T	10	0.24740142	0.42020	T	0.010894	0.27936	T	0.176	0.44373	0.673	0.81101	0.433600339574	0.42977	0.36735760261493217	0.36649	0.118740960914	0.13371	0.492585897446	0.37797	T	0.237886	0.60567	T	-0.295328	0.09107	T	-0.554337	0.16912	T	0.533129096031189	0.33849	D	0.90391	0.66280	D	0.089587525	0.20936	0.14138456	0.33671	0.089587525	0.20935	0.14138456	0.33670	-8.508	0.64482	D	.	.	0.186	0.61664	B	.;.	.;.	2.887314	0.38231	20.7	0.99769805422934466	0.85834	0.24986	0.22562	N	ALL	0.708529	0.66291	D	-0.323225131226334	0.28268	1.557775	-0.441221734056379	0.23799	1.299745	0.999999999999651	0.74766	0.72623	0.87236	0	0.609123	0.50646	0	0.594344	0.31042	0	0.554799	0.18163	0	.	.	4.42	1.31	0.20837	0.954000	0.28772	0.660000	0.20495	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.970000	0.54328	0.0:0.5274:0.4726:0.0	13.601	0.61488	723	0.55174	AMP-dependent synthetase/ligase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	763.98	45	chr15	50182846	.	C	T	763.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.05;DP=863;ExcessHet=0.0000;FS=11.496;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.78;ReadPosRankSum=-2.580e+00;SOR=1.829	GT:AD:DP:GQ:PL	0/1:58,29:87:99:778,0,1457	20	0	1	0
chr15	50242769	50242769	T	C	exonic	HDC	.	nonsynonymous SNV	HDC:NM_001306146:exon11:c.A1381G:p.I461V	.	.	419	1095	8	0	0	8	0.00363967	.	.	726117	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.92	T	0.0	B	0.0	B	0.388	N	1.000	N	0	N	3.17	T	-0.919	T	0.007	T	0.04	0.018	4.108	-7.61	-1.232	-0.288	11.267	0.010	0.00507297730241	0.0054	0.00219649	0.0035	0.0015	0.0015	0.0001	0.0006	0.0051	0.0033	0.0028	0.0037904	586	154602	rs145672878	0.0061	0.0061	0.0061	0.0061	0.0074	0.0060	0.0059	0.0073	0.0072	0.0013	0.0016	0.0003	5.038e-05	0.0007	0.0014	0.0074	0.0040	0.0027	0.0038	0.0038	0.0040	0.0037	0.0065	0.0036	0.0035	0.0060	0.0058	0.0016	0.0352	0.0016	0.0003	0.0002	0	0	0.0065	0.0043	0.0021	0.677	0.09514	T	0.964	0.02522	T	0.0	0.02946	B	0.0	0.01387	B	0.387645	0.04458	N	1.346580	1	0.08975	N	0	0.06538	N	3.17	0.08547	T	0.09	0.05917	N	0.041	0.05929	-0.9195	0.45621	T	0.007	0.02439	T	10	0.002978623	0.00048	T	0.005073	0.12846	T	0.010	0.01040	.	.	0.165150595986	0.16160	0.36965503806548033	0.36879	0.228951698828	0.25452	0.305859923363	0.11281	T	0.11933	0.44077	T	-0.766808	0.00014	T	-0.867562	0.00766	T	0.00152915458376426	0.00015	T	0.536546	0.18722	T	0.01790499	0.00314	0.029343601	0.01261	0.018559385	0.00377	0.032490727	0.01993	-2.273	0.04733	T	.	.	0.072	0.18122	B	.;.	.;.	-0.804069	0.01099	0.049	0.4561777270092397	0.03594	0.10169	0.15749	N	AEFGBCI	0.106694	0.21280	N	-1.67840812081696	0.00921	0.03988912	-1.71208880709645	0.01085	0.04871907	0.999998599178172	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.72	-7.61	0.01158	-0.576000	0.05947	-2.092000	0.04225	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.035000	0.13729	0.0:0.5151:0.1963:0.2886	11.267	0.48351	708	0.56926	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	2444.98	36	chr15	50242769	.	T	C	2444.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.109e+00;DP=894;ExcessHet=0.0000;FS=2.475;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.60;ReadPosRankSum=1.11;SOR=0.833	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1148	20	0	1	0
chr15	50301220	50301220	C	A	splicing	GABPB1	NM_005254:exon5:c.619+1G>T;NM_001320915:exon6:c.619+1G>T;NM_001320910:exon6:c.619+1G>T;NM_002041:exon5:c.619+1G>T	.	.	.	.	425	1055	39	3	0	45	0.0208817	1.0000	0.938	2817570	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.212	16.76	5.17	2.583	1.885	11.681	.	.	0.0035	0.00219649	0.0038	0.0016	0.0020	0	0	0.0044	0.0079	0.0072	0.0035058	542	154602	rs80042819	0.0035	0.0035	0.0033	0.0036	0.0115	0.0034	0.0033	0.0093	0.0084	0.0021	0.0030	0.0122	2.521e-05	0.0002	0.0115	0.0033	0.0038	0.0070	0.0029	0.0030	0.0031	0.0028	0.0046	0.0027	0.0026	0.0032	0.0030	0.0023	0.0022	0.0029	0.0072	0.0002	9.418e-05	0.0136	0.0036	0.0047	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0724187	0.61142	D	0.334834	0.89709	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.696742	0.75312	26.3	0.99276755404042938	0.57765	0.98054	0.79209	D	AEFBI	.	.	.	1.01461228058669	0.96177	14.38738	0.855504721223187	0.93334	11.97405	0.99392507945788	0.33413	0.156188	0.03335	0	0.156173	0.03658	0	0.121303	0.03266	0	0.126568	0.03934	0	0.976	0.78573	5.17	5.17	0.70848	1.906000	0.39518	4.004000	0.41101	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9179:0.0:0.0821	11.681	0.50721	725	0.54935	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	966.98	34	chr15	50301220	.	C	A	966.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.640e-01;DP=791;ExcessHet=0.0000;FS=0.808;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.18;ReadPosRankSum=0.838;SOR=0.543	GT:AD:DP:GQ:PL	0/1:54,41:95:99:981,0,1495	20	0	1	0
chr15	50739814	50739814	G	A	exonic	SPPL2A	.	nonsynonymous SNV	SPPL2A:NM_032802:exon6:c.C599T:p.A200V,	.	.	513	1003	5	1	0	7	0.0034774	.	.	2817577	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.28	T	0.079	B	0.069	B	0.047	N	1.000	N	0	N	2.67	T	-0.984	T	0.019	T	0.137	0.282	5.526	3.58	0.663	1.876	11.182	0.022	0.00625992861723	0.0022	0.000599042	0.0032	0.0006	0.0015	0.0001	0.0038	0.0040	0.0044	0.0041	0.0028784	445	154602	rs61752332	0.0024	0.0024	0.0023	0.0024	0.0087	0.0023	0.0023	0.0068	0.0061	0.0005	0.0024	0.0045	0	0.0026	0.0087	0.0023	0.0028	0.0038	0.0024	0.0024	0.0023	0.0025	0.0032	0.0022	0.0022	0.0028	0.0027	0.0005	0.0208	0.0029	0.0035	0	0.0034	0.0102	0.0032	0.0033	0.0027	0.218	0.19090	T	0.218	0.26066	T	0.079	0.24468	B	0.069	0.27757	B	0.047456	0.23343	N	0.483083	0.999979	0.18612	N	2.135	0.59519	M	2.67	0.12473	T	-1.77	0.41809	N	0.082	0.05799	-0.9839	0.34093	T	0.019	0.07986	T	10	0.004019171	0.00078	T	0.00626	0.16435	T	0.022	0.04323	.	.	0.0297737177859	0.01360	0.309217162686016	0.30834	0.130285069413	0.14699	0.301409065723	0.10611	T	0.02323	0.17768	T	-0.584338	0.00181	T	-0.612419	0.11790	T	0.00851367935394009	0.00104	T	0.815218	0.46991	T	0.031580362	0.03023	0.0617537	0.11975	0.031580362	0.03022	0.0617537	0.11975	-4.429	0.29948	T	.	.	0.078	0.06896	B	.	.	0.689678	0.10580	7.289	0.78287100374067686	0.12235	0.41557	0.26683	N	AEFBI	0.136458	0.25713	N	-0.98155481508831	0.08998	0.4240715	-0.922587235431134	0.11562	0.5897562	0.00815038754853368	0.11619	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.46	3.58	0.40133	2.035000	0.40776	3.361000	0.37860	-0.157000	0.11712	0.253000	0.24879	0.478000	0.25088	0.236000	0.22896	0.0696:0.1286:0.8019:0.0	11.182	0.47860	330	0.86467	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1619.98	33	chr15	50739814	.	G	A	1619.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.303e+00;DP=770;ExcessHet=0.0000;FS=0.877;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.52;ReadPosRankSum=-1.855e+00;SOR=0.539	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,42:83:99:0|1:50739814_G_A:1634,0,1595:50739814	20	0	1	0
chr15	50739815	50739815	C	A	exonic	SPPL2A	.	nonsynonymous SNV	SPPL2A:NM_032802:exon6:c.G598T:p.A200S,	.	.	513	1003	5	1	0	7	0.0034774	.	.	2817578	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.72	T	0.002	B	0.004	B	0.047	N	1.000	N	0	N	2.76	T	-0.933	T	0.011	T	0.183	-1.108	0.135	2.53	0.256	0.710	4.312	0.004	0.00613918467546	0.0022	0.000599042	0.0032	0.0006	0.0015	0.0001	0.0038	0.0040	0.0044	0.0041	0.0028784	445	154602	rs61752331	0.0024	0.0024	0.0023	0.0024	0.0087	0.0023	0.0023	0.0068	0.0061	0.0005	0.0024	0.0046	0	0.0026	0.0087	0.0023	0.0028	0.0037	0.0024	0.0024	0.0023	0.0025	0.0032	0.0022	0.0021	0.0028	0.0027	0.0005	0.0208	0.0029	0.0035	0	0.0034	0.0102	0.0032	0.0033	0.0027	0.669	0.04575	T	0.509	0.10857	T	0.002	0.09854	B	0.004	0.10090	B	0.047456	0.23343	N	0.483083	0.999997	0.08975	N	1.1	0.28011	L	2.76	0.11515	T	-0.54	0.16598	N	0.069	0.04188	-0.9328	0.43725	T	0.011	0.04134	T	10	0.004056424	0.00079	T	0.006139	0.16082	T	0.004	0.00165	.	.	0.0401082797425	0.02173	0.18714342832602088	0.18632	0.119519482716	0.13456	0.284596323967	0.08142	T	0.012012	0.10632	T	-0.589397	0.00169	T	-0.619925	0.11191	T	0.00105230382339885	0.00010	T	0.625537	0.24174	T	0.02130124	0.00725	0.028114734	0.01019	0.02130124	0.00725	0.028114734	0.01019	-3.293	0.13647	T	.	.	0.084	0.09481	B	.	.	0.161734	0.05522	1.984	0.4393191621576073	0.03342	0.21112	0.21285	N	AEFBI	0.090943	0.18425	N	-1.05432012885473	0.07503	0.3487571	-0.995200304964114	0.09892	0.4948651	1.56637699708528E-4	0.05650	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.46	2.53	0.29594	0.782000	0.26449	0.104000	0.14688	0.578000	0.29377	0.211000	0.24435	0.012000	0.20211	0.250000	0.23263	0.1315:0.617:0.1274:0.1241	4.312	0.10416	330	0.86467	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1619.98	33	chr15	50739815	.	C	A	1619.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.598e+00;DP=770;ExcessHet=0.0000;FS=0.877;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.52;ReadPosRankSum=-2.036e+00;SOR=0.539	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,42:83:99:0|1:50739814_G_A:1634,0,1595:50739814	20	0	1	0
chr15	50749712	50749712	C	T	exonic	SPPL2A	.	nonsynonymous SNV	SPPL2A:NM_032802:exon2:c.G101A:p.G34E,	.	.	431	1068	22	1	0	24	0.0111111	.	.	1157483	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.12	T	0.02	B	0.015	B	0.001	N	0.522	N	1.1	L	2.82	T	-1.095	T	0.016	T	0.202	2.952	15.84	3.8	1.384	1.261	8.270	0.028	0.00587756568224	0.0011	0.00259585	0.0019	9.612e-05	0.0015	0	0.0002	0.0016	0.0011	0.0064	0.0017788	275	154602	rs145832874	0.0014	0.0014	0.0011	0.0016	0.0067	0.0013	0.0013	0.0062	0.0061	5.977e-05	0.0011	0.0093	0	0.0003	0.0054	0.0009	0.0019	0.0067	0.0015	0.0015	0.0015	0.0015	0.0093	0.0013	0.0013	0.0072	0.0064	0.0003	0	0.0025	0.0104	0	0	0.0034	0.0013	0.0014	0.0093	0.06	0.37326	T	0.116	0.36497	T	0.02	0.18235	B	0.015	0.17295	B	0.001238	0.39743	N	0.291695	0.522116	0.31560	N	1.095	0.27400	L	2.82	0.10871	T	-1.52	0.36980	N	0.39	0.43126	-1.0953	0.04709	T	0.016	0.06377	T	10	0.005771637	0.00129	T	0.005878	0.15310	T	0.028	0.06331	.	.	0.180583059064	0.17676	0.6065184971295519	0.60582	0.177546895011	0.19976	0.559614479542	0.47213	T	0.008912	0.08144	T	-0.574326	0.00209	T	-0.594727	0.13259	T	0.0132353450448309	0.00235	T	0.859414	0.55137	D	0.0666134	0.14349	0.11202055	0.27026	0.0666134	0.14349	0.11202055	0.27025	-3.658	0.18700	T	.	.	0.319	0.54427	B	.	.	2.381070	0.30564	18.48	0.98042833001324559	0.37805	0.76154	0.37329	D	AEFDBIJ	0.147110	0.27071	N	-0.181220228882164	0.33917	1.929786	-0.0160047478032386	0.38992	2.305253	0.906822597963035	0.26242	0.706298	0.61202	0	0.724815	0.89359	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.72	3.8	0.42887	1.194000	0.31783	2.021000	0.30209	0.591000	0.32079	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.7246:0.1402:0.1353	8.270	0.30998	321	0.86949	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1543.98	46	chr15	50749712	.	C	T	1543.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.299;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.35;ReadPosRankSum=-7.400e-02;SOR=0.761	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1354	20	0	1	0
chr15	50958700	50958700	T	C	exonic	AP4E1	.	nonsynonymous SNV	AP4E1:NM_001252127:exon14:c.T1532C:p.M511T	Spastic paraplegia 51, autosomal recessive, Autosomal recessive;Stuttering, familial persistent, 1, Autosomal dominant	.	0	1519	2	1	0	4	0.00131492	.	.	842550	Spastic_paraplegia|not_provided	Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.101	B	0.113	B	0.079	N	0.581	N	0.55	N	2.69	T	-1.078	T	0.027	T	0.537	2.274	13.56	4.29	1.937	4.108	13.095	0.179	0.0067695119177	7.7e-05	.	0.0002	0	8.652e-05	0	0	0.0001	0.0011	0.0009	0.0001876	29	154602	rs139022614	9.988e-05	9.987e-05	8.304e-05	0.0001	0.0023	8.646e-05	8.134e-05	0.0013	0.0011	5.974e-05	4.472e-05	0.0002	0	0	0.0023	5.306e-05	0.0001	0.0006	7.226e-05	7.223e-05	7.707e-05	6.723e-05	0.0002	3.97e-05	3.127e-05	5.842e-05	4.239e-05	2.412e-05	0	6.543e-05	0	0	0	0	0.0001	0	0.0002	0.003	0.68238	D	0.018	0.59732	D	0.101	0.25775	B	0.113	0.31689	B	0.079164	0.21000	N	0.556217	0.581134	0.31098	N	0.345	0.11182	N	2.69	0.12268	T	-2.39	0.52612	N	0.477	0.52651	-1.0776	0.07821	T	0.027	0.11618	T	10	0.14933053	0.28264	T	0.00677	0.17897	T	0.179	0.44899	.	.	0.165150595986	0.16160	0.4837861768173834	0.48298	0.121364562412	0.13666	0.484153449535	0.36629	T	0.117259	0.43721	T	-0.368358	0.03678	T	-0.399304	0.33465	T	0.0766603564924927	0.09555	T	0.660434	0.26965	T	0.41818228	0.61970	0.41249058	0.65451	0.5239562	0.68487	0.3743204	0.62600	-6.567	0.51297	T	.	.	0.204	0.42906	B	.;.	.;.	3.458791	0.48198	22.6	0.97808166456287515	0.36110	0.97594	0.75777	D	AEFBI	0.289263	0.40095	N	-0.104402513134786	0.37201	2.160927	0.053900221750831	0.42262	2.553071	0.999998889386394	0.74766	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	4.29	4.29	0.50359	3.745000	0.54838	7.839000	0.70444	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	13.095	0.58601	256	0.89942	Clathrin/coatomer adaptor, adaptin-like, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1897.98	33	chr15	50958700	.	T	C	1897.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.258e+00;DP=865;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=0.286;SOR=0.683	GT:AD:DP:GQ:PL	0/1:64,80:144:99:1912,0,1543	20	0	1	0
chr15	50997719	50997719	A	C	exonic	AP4E1	.	nonsynonymous SNV	AP4E1:NM_001252127:exon18:c.A2515C:p.I839L	Spastic paraplegia 51, autosomal recessive, Autosomal recessive;Stuttering, familial persistent, 1, Autosomal dominant	.	2	1516	4	0	0	4	0.00131752	.	.	1448429	Inborn_genetic_diseases|Spastic_paraplegia	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.56	T	0.0	B	0.0	B	0.327	N	1.000	N	0	N	2.38	T	-0.971	T	0.015	T	0.149	-1.465	0.019	1.22	0.779	-0.153	1.628	0.053	0.00327756052449	.	.	9.086e-05	0	0.0003	0	0	4.503e-05	0.0011	0.0002	7.12e-05	11	154602	rs755478140	4.378e-05	4.378e-05	3.812e-05	4.951e-05	0.0003	3.509e-05	3.193e-05	0.0002	0.0002	0	8.945e-05	0	0	0	0.0002	2.338e-05	0.0001	0.0003	4.599e-05	4.597e-05	5.138e-05	4.034e-05	0.0002	2.109e-05	1.527e-05	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0.0005	0.0002	0.909	0.02489	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.326718	0.14181	N	0.708362	1	0.08975	N	-0.69	0.01958	N	2.38	0.15843	T	0.32	0.03955	N	0.137	0.14622	-0.9705	0.37094	T	0.015	0.06234	T	10	0.02783978	0.00924	T	0.003278	0.07268	T	0.053	0.14996	0.604	0.73586	0.128874641272	0.12493	0.0667812132132635	0.06616	0.101957349095	0.11540	0.299136519432	0.10272	T	0.031955	0.22272	T	-0.506145	0.00528	T	-0.67267	0.07437	T	0.0209976173785932	0.00800	T	0.339966	0.07337	T	0.057995927	0.11612	0.0266742	0.00770	0.057995927	0.11611	0.0266742	0.00770	-2.796	0.08435	T	.	.	0.064	0.01577	B	.;.	.;.	0.388294	0.07598	4.259	0.31949958919540061	0.01827	0.06285	0.12278	N	AEFBHCI	0.027342	0.02215	N	-1.01659517091712	0.08259	0.3866204	-0.951503549770072	0.10888	0.5513072	0.809032789162804	0.24322	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.2	1.22	0.20300	-0.144000	0.10263	-0.216000	0.10808	0.691000	0.84096	0.002000	0.15269	0.000000	0.08366	0.862000	0.40904	0.3768:0.3619:0.107:0.1543	1.628	0.02561	342	0.85871	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1856.98	36	chr15	50997719	.	A	C	1856.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.11;DP=888;ExcessHet=0.0000;FS=1.981;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=-2.124e+00;SOR=0.701	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1254	20	0	1	0
chr15	51480616	51480616	G	C	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon21:c.C4471G:p.L1491V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	1.995	M	-2.06	D	0.483	D	0.707	D	0.844	3.820	19.40	5.77	2.729	6.766	13.230	0.704	0.117777155765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.094e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.405	0.69568	M	-2.06	0.85875	D	-2.88	0.60507	D	0.74	0.79406	0.483	0.90301	D	0.707	0.89914	D	10	0.7455675	0.75263	D	0.117777	0.79764	D	0.704	0.89376	0.462	0.53079	0.79628066686	0.79438	0.5831259576205228	0.58241	0.790969623184	0.65777	0.804797291756	0.82694	D	0.413358	0.76724	T	0.355009	0.86863	D	0.27217	0.86691	D	0.983855545520782	0.75369	D	0.938406	0.78595	D	0.71831286	0.79067	0.66708344	0.80475	0.71831286	0.79069	0.66708344	0.80476	-6.497	0.50739	T	.	.	0.783	0.76515	P	.;.;.	.;.;.	4.493995	0.70227	25.5	0.99814742571298831	0.89797	0.98484	0.83265	D	AEFBI	0.820937	0.74161	D	0.826416697591381	0.87726	9.319382	0.824365288908583	0.91435	10.88461	0.9999938428267	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	6.935000	0.75699	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0725:0.0:0.9275:0.0	13.230	0.59363	505	0.75648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3824	1772.96	148	chr15	51480616	.	G	C	1772.96	.	AC=13;AF=0.382;AN=34;BaseQRankSum=-4.061e+00;DP=2481;ExcessHet=11.8493;FS=476.218;InbreedingCoeff=-0.5815;MLEAC=15;MLEAF=0.441;MQ=60.00;MQRankSum=0.00;QD=1.03;ReadPosRankSum=0.533;SOR=13.073	GT:AD:DP:GQ:PL	0/1:82,44:126:99:130,0,1605	4	0	13	4
chr15	51724938	51724938	C	T	exonic	LYSMD2	.	nonsynonymous SNV	LYSMD2:NM_001143917:exon2:c.G184A:p.G62R	.	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.018	B	0.004	B	0.244	N	1.000	N	1.355	L	1.46	T	-1.046	T	0.056	T	0.046	0.397	6.155	1.72	0.173	1.705	6.984	0.042	0.00524064398447	0.0073	0.00339457	0.0055	0.0014	0.0029	0.0003	0.0008	0.0086	0.0011	0.0021	0.0057179	884	154602	rs138439412	0.0080	0.0080	0.0080	0.0079	0.0090	0.0079	0.0078	0.0088	0.0088	0.0010	0.0038	0.0258	0.0001	0.0013	0.0026	0.0090	0.0084	0.0025	0.0056	0.0056	0.0062	0.0049	0.0081	0.0052	0.0051	0.0075	0.0073	0.0017	0.0055	0.0062	0.0236	0.0002	0.0013	0	0.0081	0.0066	0.0025	0.423	0.22573	T	0.525	0.16865	T	0.018	0.17786	B	0.004	0.10090	B	0.243666	0.03600	N	1.443250	1	0.08975	N	1.155	0.29575	L	1.4	0.42122	T	-1.62	0.58085	N	0.082	0.07949	-1.0465	0.15389	T	0.056	0.23677	T	10	0.0031895638	0.00054	T	0.005241	0.13371	T	0.042	0.11227	0.305	0.27485	0.362758974969	0.35886	0.17948963885269326	0.17867	0.146231735787	0.16512	0.200983867049	0.00486	T	6.59E-4	0.00285	T	-0.64404	0.00079	T	-0.691073	0.06327	T	0.00286071943286836	0.00030	T	0.641836	0.29365	T	0.041086152	0.05984	0.056221467	0.10006	0.041086152	0.05984	0.056221467	0.10006	-3.339	0.17467	T	.	.	0.072	0.14933	B	.;.;.;.	.;.;.;.	1.234578	0.16299	12.45	0.61355466062863984	0.06688	0.51693	0.28955	D	AEFDBHI	0.182783	0.31011	N	-0.788265873553229	0.13615	0.6720113	-0.741257619712859	0.15938	0.840687	0.999977409856512	0.50053	0.645754	0.44609	0	0.696144	0.67643	0	0.608524	0.38960	0	0.704051	0.69138	0	.	.	4.91	1.72	0.23498	1.274000	0.32736	0.230000	0.16179	-0.182000	0.10109	0.002000	0.15269	0.000000	0.08366	0.876000	0.41813	0.0:0.4926:0.3234:0.184	6.984	0.23899	283	0.88803	.;.;.;.	.	.	.	.	rs138439412	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1261.98	33	chr15	51724938	.	C	T	1261.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.49;DP=782;ExcessHet=0.0000;FS=1.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.18;ReadPosRankSum=1.61;SOR=0.666	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1058	20	0	1	0
chr15	51737521	51737521	C	G	exonic	LYSMD2	.	nonsynonymous SNV	LYSMD2:NM_153374:exon1:c.G102C:p.E34D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.608	P	0.146	B	0.011	U	1.000	D	0.975	L	1.16	T	-1.105	T	0.058	T	0.287	2.285	13.60	3.12	0.921	1.570	11.669	0.059	0.520199524135	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs904431964	3.229e-05	2.805e-05	4.485e-05	1.869e-05	0.0003	2.364e-05	2.098e-05	2.358e-05	2.054e-05	0	0	6.879e-05	0	0	0.0003	3.291e-05	6.763e-05	0	6.6e-06	6.571e-06	1.29e-05	0	1.475e-05	0	0	.	.	0	0	0	0	0	0	0	1.475e-05	0	0	0.035	0.43708	D	0.061	0.45530	T	0.608	0.39540	P	0.146	0.33945	B	0.010782	0.29783	U	0.298232	0.999412	0.81001	D	2.045	0.56016	M	1.16	0.38073	T	-1.02	0.26843	N	0.248	0.28028	-1.1047	0.03567	T	0.058	0.24428	T	10	0.2303744	0.39987	T	0.520	0.95435	D	0.059	0.16972	0.091	0.01065	0.369867359543	0.36593	0.31234773195055987	0.31147	0.177066389219	0.19922	0.954826891422	0.99842	D	0.010887	0.09781	T	-0.128724	0.31703	T	-0.422679	0.30769	T	0.257644796886239	0.23211	T	0.488951	0.15001	T	0.23856387	0.46735	0.15860085	0.37030	0.23856387	0.46735	0.15860085	0.37029	-3.433	0.15504	T	.	.	0.099	0.16538	B	.	.	2.828143	0.37279	20.5	0.90016058773140051	0.19305	0.61631	0.31541	D	AEFDGBHCI	0.252249	0.37197	N	-0.430216184392191	0.24416	1.318171	-0.454506786318731	0.23420	1.277169	0.999999999999981	0.74766	0.652421	0.48094	0	0.484254	0.07192	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	4.04	3.12	0.34986	1.642000	0.36823	3.011000	0.35961	0.421000	0.20799	1.000000	0.71638	0.986000	0.30841	0.993000	0.69303	0.0:0.912:0.0:0.088	11.669	0.50653	243	0.90483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	575.98	29	chr15	51737521	.	C	G	575.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.400e+00;DP=543;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.00;ReadPosRankSum=0.081;SOR=0.693	GT:AD:DP:GQ:PL	0/0:24,0:24:66:0,66,990	20	0	1	0
chr15	52064815	52064815	T	C	exonic	MAPK6	.	nonsynonymous SNV	MAPK6:NM_002748:exon6:c.T1981C:p.F661L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.0	B	0.001	B	0.000	N	0.999	D	0.695	N	-0.54	T	-0.966	T	0.170	T	0.165	1.292	10.22	3.95	0.841	3.566	7.557	0.099	0.00999997033343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.351	0.12265	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	N	0.090906	0.998691	0.45291	D	0.255	0.09829	N	-0.54	0.70950	T	-0.43	0.14390	N	0.17	0.18103	-0.9663	0.37954	T	0.170	0.51117	T	10	0.09832692	0.17770	T	0.01	0.26012	T	0.099	0.28413	0.252	0.19067	0.292942362817	0.28906	0.5084305033591271	0.50765	0.0261044709138	0.02667	0.520622014999	0.41714	T	0.22831	0.59382	T	-0.132265	0.31130	T	-0.427766	0.30188	T	0.246853113174438	0.22732	T	0.728227	0.34274	T	0.07236734	0.16091	0.07451719	0.16310	0.07236734	0.16091	0.07451719	0.16310	-2.724	0.07506	T	.	.	0.405	0.59865	A	.	.	2.761204	0.36222	20.2	0.96632512907196877	0.30520	0.92191	0.55148	D	AEFBI	0.440909	0.49928	N	-0.309773277962737	0.28776	1.590056	-0.127551966194358	0.34283	1.970367	0.99991020320938	0.45857	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.06	3.95	0.44952	3.720000	0.54661	3.870000	0.40183	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.818000	0.38543	0.0:0.1682:0.0:0.8318	7.557	0.26998	266	0.89551	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	203.11	46	chr15	52064815	.	T	C	203.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.016e+00;DP=950;ExcessHet=0.1072;FS=203.975;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.92;MQRankSum=0.00;QD=1.02;ReadPosRankSum=0.905;SOR=7.903	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1421	19	0	2	0
chr15	52124541	52124541	C	T	exonic	GNB5	.	nonsynonymous SNV	GNB5:NM_001379343:exon10:c.G826A:p.V276I	Intellectual developmental disorder with cardiac arrhythmia, Autosomal recessive;Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1198640	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.338	B	0.075	B	0.000	D	1.000	D	-0.055	N	-0.25	T	-0.899	T	0.140	T	0.155	2.940	15.80	5.07	1.560	5.905	15.341	0.139	0.0200841328808	.	.	6.591e-05	0	0	0	0	4.497e-05	0	0.0003	5.17e-05	8	154602	rs763538889	4.516e-05	4.515e-05	2.179e-05	6.877e-05	0.0004	3.642e-05	3.322e-05	0.0003	0.0002	0.0001	0.0001	0	0	0	0	2.069e-05	4.969e-05	0.0004	3.938e-05	3.937e-05	5.139e-05	2.684e-05	0.0004	1.714e-05	1.128e-05	7.29e-05	3.029e-05	0	0	0.0002	0	0	0	0	1.47e-05	0	0.0004	0.118	0.29554	T	0.202	0.27591	T	0.009	0.33405	B	0.007	0.28327	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.25	0.67011	T	-0.66	0.19085	N	0.255	0.33904	-0.8987	0.48125	T	0.140	0.45903	T	10	0.2358593	0.40655	T	0.020084	0.42598	T	0.139	0.37390	0.714	0.84962	0.605332244828	0.60217	0.3871397900187157	0.38628	0.378931172671	0.39296	0.801466464996	0.82186	T	0.142	0.47767	T	-0.282412	0.10413	T	-0.343118	0.39990	T	0.169850423932076	0.18570	T	0.956404	0.84623	D	0.11243324	0.26562	0.08883867	0.20737	0.11243324	0.26561	0.08883867	0.20737	-7.61	0.60325	D	0.1546909591715261	0.18490	0.113	0.22135	B	.;.;.	.;.;.	3.713200	0.53021	23.3	0.9903017514922321	0.50786	0.85600	0.44750	D	ALL	0.538707	0.55599	D	-0.289808579406243	0.29540	1.639107	-0.146455844635163	0.33545	1.919954	0.999999999999842	0.74766	0.730579	0.87903	0	0.719019	0.82233	0	0.643519	0.47002	0	0.648885	0.59868	0	.	.	5.98	5.07	0.68106	5.985000	0.70235	7.611000	0.61914	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.430000	0.27449	0.0:0.9334:0.0:0.0666	15.341	0.74012	260	0.89800	WD40-repeat-containing domain;.;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2819.11	35	chr15	52124541	.	C	T	2819.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.477;DP=955;ExcessHet=0.1072;FS=3.258;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.93;ReadPosRankSum=1.02;SOR=0.521	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1265	19	0	2	0
chr15	52593677	52593677	C	G	exonic	FAM214A	.	nonsynonymous SNV	FAM214A:NM_001385021:exon8:c.G2520C:p.E840D	.	.	438	1081	3	0	0	3	0.00138568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.428	B	0.465	P	0.000	D	1.000	D	1.955	M	1.26	T	-0.930	T	0.130	T	0.705	4.124	21.3	4.79	1.286	0.689	9.169	0.168	0.0292135538313	8.4e-05	0.000199681	0.0005	0	0.0017	0	0	0.0003	0	0.0010	0.0001229	19	154602	rs199670555	0.0002	0.0002	9.546e-05	0.0002	0.0013	0.0001	0.0001	0.0011	0.0010	0	0	0	0	0	0.0009	8.585e-05	0.0002	0.0013	0.0001	0.0001	6.426e-05	0.0002	0.0015	7.574e-05	6.279e-05	0.0007	0.0005	2.408e-05	0	6.536e-05	0	0	0	0	0.0001	0	0.0015	0.008	0.58626	D	0.0	0.92824	D	0.428	0.35540	B	0.465	0.46596	P	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.095	0.58118	M	1.26	0.36330	T	-2.68	0.57275	D	0.698	0.72031	-0.9303	0.44095	T	0.130	0.44009	T	10	0.032668203	0.01424	T	0.029214	0.51767	D	0.168	0.42943	0.442	0.49811	0.151262610727	0.14761	0.6053628043753221	0.60467	0.396212701024	0.40736	0.75298088789	0.74887	T	0.161682	0.50604	T	-0.268661	0.11907	T	-0.177704	0.56734	T	0.136891930061741	0.16004	T	0.973703	0.90499	D	0.48877206	0.66429	0.36265182	0.61667	0.48877206	0.66430	0.36265182	0.61666	-7.557	0.58010	D	.	.	0.642	0.70580	P	.;.;.;.	.;.;.;.	3.778765	0.54322	23.5	0.99859156487359124	0.93820	0.91875	0.54452	D	AEFBI	0.324775	0.42656	N	0.165231935281765	0.49536	3.152824	0.239036476904235	0.52029	3.380565	0.816078603030079	0.24441	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.8	4.79	0.60909	0.706000	0.25365	4.001000	0.41074	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.7674:0.0:0.2326	9.169	0.36233	600	0.68026	Domain of unknown function DUF4210|Domain of unknown function DUF4210;.;Domain of unknown function DUF4210|Domain of unknown function DUF4210;Domain of unknown function DUF4210|Domain of unknown function DUF4210	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	343.98	39	chr15	52593677	.	C	G	343.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.941;DP=716;ExcessHet=0.0000;FS=3.862;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=-4.620e-01;SOR=1.915	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr15	52757757	52757757	G	T	exonic	ONECUT1	.	nonsynonymous SNV	ONECUT1:NM_004498:exon2:c.C1196A:p.T399N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.898	P	0.983	D	0.000	D	1.000	D	2.715	M	-3.96	D	1.195	D	0.947	D	0.516	2.413	14.03	6.16	2.937	9.476	19.848	0.738	0.208087383357	.	.	.	.	.	.	.	.	.	.	.	.	.	rs951270492	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.898	0.49442	P	0.983	0.75793	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.705	0.79137	M	-3.96	0.96208	D	-4.53	0.78388	D	0.829	0.82458	1.195	0.99968	D	0.947	0.98273	D	10	0.932786	0.92614	D	0.208087	0.87127	D	0.738	0.90895	0.461	0.52916	0.986078760388	0.98593	0.9025947465761972	0.90231	1.63181678604	0.89233	0.893016397953	0.95631	D	0.967888	0.99628	D	0.429832	0.91524	D	0.379648	0.91419	D	0.933224260807037	0.59982	D	0.989801	0.96720	D	0.808886	0.84480	0.72491807	0.83753	0.808886	0.84481	0.72491807	0.83754	-9.696	0.72072	D	.	.	0.999	0.97850	P	.	.	4.565023	0.71974	25.8	0.94630844896090471	0.25218	0.99044	0.90407	D	AEFBI	0.941518	0.94490	D	0.990109827375225	0.95432	13.61422	0.984825478814731	0.98312	17.94185	0.999999999451423	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	6.16	6.16	0.99302	9.602000	0.97623	10.004000	0.83058	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.848	0.96719	410	0.82135	Homeobox domain|Homeobox domain|Homeobox domain|Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1229.98	36	chr15	52757757	.	G	T	1229.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.98;ReadPosRankSum=0.617;SOR=0.713	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1192	20	0	1	0
chr15	53705981	53705981	T	C	exonic	WDR72	.	nonsynonymous SNV	WDR72:NM_182758:exon10:c.A1048G:p.T350A,	Amelogenesis imperfecta, type IIA3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2382227	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.31	T	0.816	P	0.158	B	0.000	D	0.867	D	2.14	M	2.34	T	-1.009	T	0.045	T	0.64	2.699	14.98	5.77	2.202	3.429	15.268	0.128	0.00753007949164	0.0006	0.000399361	0.0001	0.0014	0	0	0	0	0	0	0.0001229	19	154602	rs138509133	3.831e-05	3.831e-05	4.764e-05	2.888e-05	0.0013	3.025e-05	2.719e-05	0.0010	0.0009	0.0013	0	0	0	0	0	0	0.0002	0	0.0003	0.0003	0.0003	0.0003	0.0011	0.0002	0.0002	0.0008	0.0007	0.0011	0	0	0	0	0	0	0	0.0005	0	0.173	0.23095	T	0.209	0.28764	T	0.816	0.45573	P	0.158	0.34617	B	0.000006	0.62929	D	0.065858	0.866762	0.35487	D	1.95	0.52479	M	2.34	0.40218	T	-1.42	0.39314	N	0.591	0.68169	-1.0093	0.27136	T	0.045	0.19397	T	10	0.0326429	0.01420	T	0.00753	0.19979	T	0.128	0.35103	.	.	0.213573922156	0.20996	0.5573298079852335	0.55659	0.036072396587	0.03809	0.627411603928	0.56779	T	0.023438	0.17891	T	-0.333229	0.05870	T	-0.29197	0.45566	T	0.0700068401055901	0.08652	T	0.709529	0.32034	T	0.16180551	0.36215	0.18341325	0.41329	0.16180551	0.36215	0.18341325	0.41328	-8.253	0.62781	D	0.489895577446836	0.56699	0.123	0.29995	B	.;.;.;.;.	.;.;.;.;.	3.641686	0.51634	23.1	0.99201993664612986	0.55321	0.94782	0.62311	D	AEFI	0.578522	0.57969	D	0.318908195553475	0.57119	3.878163	0.401766130208602	0.61675	4.370955	0.11552411250434	0.16757	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.77	5.77	0.91077	3.384000	0.52216	7.844000	0.70656	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.268	0.73380	921	0.19240	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1034.98	35	chr15	53705981	.	T	C	1034.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.26;DP=768;ExcessHet=0.0000;FS=0.880;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.37;ReadPosRankSum=0.820;SOR=0.578	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1372	20	0	1	0
chr15	54014519	54014519	G	A	exonic	UNC13C	.	nonsynonymous SNV	UNC13C:NM_001080534:exon2:c.G1616A:p.S539N	.	.	423	1074	23	2	0	27	0.0124138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.012	B	0.007	B	.	.	1.000	D	0	N	-1.43	T	-0.718	T	0.220	T	0.039	0.625	7.362	5.01	2.608	5.017	6.904	0.287	.	.	0.0321486	0.0169	0.0002	0.0005	0.0026	0	6.02e-05	0.0135	0.1207	0.0147734	2284	154602	rs201904954	0.0071	0.0071	0.0039	0.0103	0.1116	0.0070	0.0069	0.1098	0.1090	0.0003	0.0002	0	0.0013	0	0.0066	9.354e-05	0.0083	0.1116	0.0042	0.0042	0.0024	0.0061	0.1236	0.0040	0.0038	0.1154	0.1121	0.0001	0	0.0008	0	0.0023	0	0.0034	7.353e-05	0.0052	0.1236	0.311	0.13971	T	1.0	0.01155	T	0.012	0.16265	B	0.007	0.12992	B	.	.	.	.	0.657326	0.33019	D	0.345	0.11182	N	-1.43	0.80730	T	0.26	0.04380	N	0.021	0.00339	-0.7184	0.59541	T	0.220	0.58279	T	9	0.0016723871	0.00020	T	.	.	.	0.287	0.60574	.	.	.	.	0.4083810185238867	0.40754	0.0401026956818	0.04292	0.537435829639	0.44083	T	0.062135	0.31838	T	-0.560659	0.00251	T	-0.481407	0.24297	T	0.0170661333447909	0.00453	T	0.644935	0.25655	T	0.08069248	0.18503	0.10918884	0.26311	0.08069248	0.18503	0.10918884	0.26311	-5.466	0.41549	T	.	.	0.074	0.09094	B	.;.	.;.	2.694065	0.35175	19.83	0.96017160999944662	0.28462	0.93261	0.57746	D	AEFI	0.609805	0.59887	D	-0.156615863301244	0.34953	2.001682	0.0783121737459946	0.43459	2.647272	0.0170367636193926	0.12904	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.01	5.01	0.66477	5.096000	0.64369	8.702000	0.78110	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1852:0.0:0.8148:0.0	6.904	0.23476	843	0.36859	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	6933.11	36	chr15	54014519	.	G	A	6933.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.00;DP=1226;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=0.091;SOR=0.684	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1620	19	0	2	0
chr15	55230468	55230468	G	A	exonic	RAB27A	.	nonsynonymous SNV	RAB27A:NM_004580:exon3:c.C172T:p.P58S	Griscelli syndrome, type 2, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	957460	not_provided|Autoinflammatory_syndrome|Griscelli_syndrome_type_2|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0011872,MedGen:C1868679,OMIM:607624,Orphanet:381,Orphanet:79477|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	0.0	B	0.001	B	0.000	D	1.000	D	0	N	-0.7	T	-0.877	T	0.191	T	0.313	2.099	12.98	5.75	2.716	5.115	18.931	0.107	0.0208210246837	7.7e-05	0.000199681	5.785e-05	0.0002	0	0	0	7.515e-05	0	0	5.82e-05	9	154602	rs201284258	0.0001	0.0001	0.0002	0.0001	0.0005	0.0001	0.0001	0.0002	0.0001	5.978e-05	2.237e-05	0.0002	0	0	0.0005	0.0002	0.0001	0	9.852e-05	9.843e-05	0.0001	8.06e-05	0.0002	6.004e-05	4.878e-05	0.0001	7.895e-05	4.812e-05	0	0	0.0003	0	0	0	0.0002	0	0	0.38	0.15458	T	0.893	0.03108	T	0.0	0.02946	B	0.001	0.04355	B	0.000016	0.62929	D	0.153445	0.999981	0.54805	D	0.425	0.12573	N	-0.7	0.72785	T	-0.55	0.16799	N	0.286	0.32370	-0.8770	0.49997	T	0.191	0.54286	T	10	0.09348574	0.16546	T	0.020821	0.43488	T	0.107	0.30369	.	.	0.519079548728	0.51552	0.713739840316042	0.71316	0.0177708812323	0.01741	0.535422086716	0.43799	T	0.313053	0.68483	T	-0.18382	0.23168	T	-0.310139	0.43644	T	0.135412403828747	0.15873	T	0.832417	0.50060	T	0.059170738	0.11995	0.11802371	0.28492	0.059170738	0.11995	0.11802371	0.28491	-4.751	0.34015	T	.	.	0.082	0.09094	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.363090	0.46435	22.3	0.98077321645487858	0.38078	0.94930	0.62826	D	AEFDGBI	0.628069	0.61029	D	-0.035760706872286	0.40241	2.386418	0.211128676636646	0.50465	3.238192	0.999999999614521	0.74766	0.730579	0.87903	0	0.662677	0.63036	0	0.653264	0.51672	0	0.648885	0.59868	0	.	.	5.75	5.75	0.90390	5.226000	0.65129	11.725000	0.94886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	18.931	0.92542	900	0.24599	Small GTP-binding protein domain;Small GTP-binding protein domain;Small GTP-binding protein domain;Small GTP-binding protein domain;Small GTP-binding protein domain;Small GTP-binding protein domain;Small GTP-binding protein domain;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1188.98	33	chr15	55230468	.	G	A	1188.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.379;DP=801;ExcessHet=0.0000;FS=1.756;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=1.74;SOR=0.972	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1390	20	0	1	0
chr15	55230473	55230473	C	T	exonic	RAB27A	.	nonsynonymous SNV	RAB27A:NM_004580:exon3:c.G167A:p.S56N	Griscelli syndrome, type 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	340935	Griscelli_syndrome_type_2|Autoinflammatory_syndrome	MONDO:MONDO:0011872,MedGen:C1868679,OMIM:607624,Orphanet:381,Orphanet:79477|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.003	B	0.003	N	0.999	N	-0.635	N	-0.77	T	-0.976	T	0.119	T	0.234	0.205	5.107	3.47	0.133	0.997	8.907	0.058	0.00996597678746	.	0.000798722	0.0008	0	0	0	0	0	0.0011	0.0059	0.000705	109	154602	rs540520068	0.0003	0.0003	0.0002	0.0005	0.0053	0.0003	0.0003	0.0049	0.0047	0	2.237e-05	0	0	0	0	1.529e-05	0.0006	0.0053	0.0001	0.0001	7.71e-05	0.0002	0.0039	8.163e-05	6.72e-05	0.0026	0.0021	0	0	0	0	0	0	0	0	0	0.0039	0.868	0.03307	T	0.559	0.09555	T	0.0	0.02946	B	0.003	0.08700	B	0.002885	0.35770	N	0.348334	0.998623	0.22029	N	0.505	0.13445	N	-0.77	0.73523	T	0.15	0.05810	N	0.044	0.04188	-0.9762	0.35860	T	0.119	0.41799	T	10	0.005645305	0.00125	T	0.009966	0.25946	T	0.058	0.16647	0.358	0.36060	0.245101548738	0.24120	0.4598899479518244	0.45906	0.0175363588794	0.01705	0.386014163494	0.23106	T	0.320004	0.69124	T	-0.436512	0.01356	T	-0.398153	0.33598	T	0.0284147015358934	0.01748	T	0.0345215	0.01086	T	0.04684315	0.07908	0.060645495	0.11584	0.044787794	0.07219	0.06321492	0.12489	-4.354	0.28927	T	.	.	0.087	0.11749	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	0.873357	0.12461	8.996	0.85494253943101262	0.15928	0.22890	0.21897	N	AEFDGBI	0.098027	0.19761	N	-0.897383351808153	0.10904	0.5234402	-0.646649011665067	0.18302	0.9770536	0.999999918216836	0.74766	0.660085	0.49399	0	0.662677	0.63036	0	0.618467	0.43123	0	0.654926	0.60358	0	.	.	5.75	3.47	0.38831	1.004000	0.29423	0.306000	0.17032	-0.108000	0.15293	0.754000	0.29177	0.129000	0.22981	0.988000	0.63387	0.0:0.2115:0.0:0.7885	8.907	0.34690	900	0.24599	Small GTP-binding protein domain;Small GTP-binding protein domain;Small GTP-binding protein domain;Small GTP-binding protein domain;Small GTP-binding protein domain;Small GTP-binding protein domain;Small GTP-binding protein domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1171.98	33	chr15	55230473	.	C	T	1171.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.207;DP=845;ExcessHet=0.0000;FS=0.666;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.23;ReadPosRankSum=-1.135e+00;SOR=0.761	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1390	20	0	1	0
chr15	55359627	55359627	C	G	exonic	CCPG1	.	nonsynonymous SNV	CCPG1:NM_001204450:exon8:c.G2146C:p.V716L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.458	P	0.125	B	0.154	N	0.974	N	1.39	L	3.86	T	-1.059	T	0.052	T	0.232	1.686	11.60	2.92	0.807	0.578	6.457	0.027	0.00601619530751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.821e-05	0.0007	5.573e-05	4.065e-05	6.087e-05	3.875e-05	3.55e-05	4.372e-05	3.933e-05	6.087e-05	0	3.858e-05	2.531e-05	0	0	5.531e-05	5.06e-05	2.337e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.654	0.32296	T	0.523	0.41074	T	0.458	0.36312	P	0.125	0.32635	B	0.154312	0.17865	N	0.613991	0.97429	0.25500	N	2.215	0.62545	M	3.86	0.30669	T	-0.99	0.26200	N	0.059	0.12627	-1.0586	0.12108	T	0.052	0.22269	T	10	0.053824097	0.05635	T	0.006016	0.15698	T	0.027	0.05988	0.213	0.13210	0.082315109003	0.07666	0.23983706607780256	0.23897	0.243686580979	0.26869	0.30338126421	0.10907	T	0.009022	0.08238	T	-0.188163	0.22529	T	-0.50806	0.21514	T	0.458560168743134	0.31113	T	0.682032	0.33613	T	0.077258244	0.17524	0.06391153	0.12730	0.077258244	0.17524	0.06391153	0.12729	-2.542	0.09967	T	.	.	0.230	0.47283	B	.;.;.;.	.;.;.;.	1.561984	0.20005	14.54	0.97137709401516181	0.32529	0.35420	0.25298	N	AEFBI	0.475035	0.51905	N	-0.296313876962296	0.29291	1.623008	-0.23329789577845	0.30350	1.70816	0.891671508385161	0.25865	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.83	2.92	0.32998	0.593000	0.23700	1.450000	0.26598	0.599000	0.40250	0.000000	0.06391	1.000000	0.68203	0.999000	0.91618	0.0:0.5919:0.0:0.4081	6.457	0.21139	878	0.29785	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	45.99	109	chr15	55359627	.	C	G	45.99	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-3.203e+00;DP=2072;ExcessHet=0.0000;FS=179.277;InbreedingCoeff=-0.0922;MLEAC=1;MLEAF=0.031;MQ=60.00;MQRankSum=0.00;QD=0.35;ReadPosRankSum=0.586;SOR=11.144	GT:AD:DP:GQ:PL	0/0:72,20:98:22:0,22,1389	15	0	1	5
chr15	55439574	55439574	T	C	exonic	DNAAF4	.	nonsynonymous SNV	DNAAF4:NM_001033559:exon7:c.A791G:p.H264R	Ciliary dyskinesia, primary, 25, Autosomal recessive	.	447	1072	2	1	0	4	0.0018622	.	.	400428	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.61	T	0.999	D	0.943	D	0.052	U	0.637	N	1.23	L	0.28	T	-0.780	T	0.225	T	0.498	2.866	15.55	3.76	1.991	0.306	10.156	0.151	0.0111283990208	0.0002	.	0.0001	0	0.0002	0	0	0.0002	0	6.078e-05	0.0001682	26	154602	rs375468265	0.0002	0.0002	0.0002	0.0002	0.0069	0.0002	0.0002	0.0052	0.0046	8.966e-05	0.0003	0	0	0	0.0069	0.0002	0.0003	0.0001	0.0001	0.0001	7.708e-05	0.0002	0.0004	8.657e-05	7.25e-05	0.0001	7.894e-05	0	0	0.0003	0	0	0	0	0.0002	0.0009	0.0004	0.604	0.05567	T	0.779	0.04344	T	0.999	0.77913	D	0.943	0.67921	D	0.051540	0.22974	U	0.443439	0.637046	0.30649	N	.	.	.	0.28	0.59037	T	-0.89	0.28290	N	0.227	0.35727	-0.7805	0.56274	T	0.225	0.58932	T	10	0.08019015	0.12986	T	0.011128	0.28436	T	0.151	0.39764	.	.	0.76176038058	0.75958	0.2723415135022376	0.27147	0.0541932593687	0.05990	0.379747152328	0.22221	T	0.002421	0.01816	T	-0.251564	0.13907	T	-0.302939	0.44413	T	0.0211971220585429	0.00821	T	0.877812	0.59215	D	0.12353342	0.29005	0.099807605	0.23844	0.12353342	0.29005	0.099807605	0.23843	1.52	0.00300	T	0.13166666013182665	0.13968	0.066	0.03266	B	.;.;.;.	.;.;.;.	1.245880	0.16423	12.53	0.96426556746663228	0.29778	0.48277	0.28171	N	AEFCI	0.188593	0.31586	N	-0.2442286976284	0.31335	1.755943	-0.163271927714601	0.32901	1.876468	0.0426476899009382	0.14535	0.656854	0.48797	0	0.547309	0.14657	0	0.602189	0.34648	0	0.699908	0.69081	0	.	.	4.97	3.76	0.42368	0.292000	0.18766	1.025000	0.23435	0.665000	0.62972	0.309000	0.25405	0.999000	0.35428	0.989000	0.64315	0.1492:0.0:0.0:0.8508	10.156	0.42000	829	0.39537	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1444.98	40	chr15	55439574	.	T	C	1444.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.563e+00;DP=823;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=1.51;SOR=0.663	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1141	20	0	1	0
chr15	55466987	55466987	T	C	exonic	DNAAF4	.	nonsynonymous SNV	DNAAF4:NM_001033559:exon5:c.A580G:p.K194E	Ciliary dyskinesia, primary, 25, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.587	P	0.225	B	0.538	U	1.000	N	0	N	3.37	T	-1.046	T	0.052	T	0.348	-0.433	1.986	1.25	0.259	-0.137	3.415	0.025	0.0022396211705	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs375381061	1.398e-06	3.421e-06	0	2.812e-06	3.214e-05	2.3e-07	9e-08	.	.	3.214e-05	0	0	0	0	0	0	1.696e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.421	0.16358	T	0.678	0.06836	T	0.587	0.38961	P	0.225	0.38015	B	0.538238	0.05297	U	1.298900	1	0.08975	N	.	.	.	2.69	0.46028	T	-0.51	0.19509	N	0.129	0.14196	-1.0455	0.15680	T	0.052	0.22114	T	10	0.05284649	0.05383	T	0.00224	0.04260	T	0.025	0.05312	0.209	0.12639	0.436239592564	0.43243	0.2341318917520675	0.23328	0.0611604920737	0.06807	0.391032367945	0.23816	T	0.001727	0.01148	T	-0.17975	0.23772	T	-0.495975	0.22766	T	0.0188925433903933	0.00599	T	0.564244	0.19889	T	0.06191256	0.12875	0.042601142	0.05110	0.06191256	0.12874	0.042601142	0.05110	-3.51	0.16572	T	0.13321935295039253	0.14277	0.064	0.02257	B	.;.;.;.	.;.;.;.	-0.075334	0.03791	0.799	0.84426479221199102	0.15285	0.01833	0.05688	N	AEI	0.042175	0.06512	N	-1.15541559654664	0.05691	0.2601152	-1.16721175956437	0.06464	0.3112531	5.79464058165074E-5	0.04171	0.638212	0.43195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.668105	0.65232	0	.	.	3.56	1.25	0.20475	-0.238000	0.08995	0.719000	0.20997	-0.680000	0.04236	0.000000	0.06391	0.895000	0.27885	0.558000	0.30364	0.0:0.1283:0.2387:0.633	3.415	0.06946	824	0.40336	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	939.98	35	chr15	55466987	.	T	C	939.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.08;DP=760;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.09;ReadPosRankSum=-7.470e-01;SOR=0.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1052	20	0	1	0
chr15	55829931	55829931	A	G	exonic	NEDD4	.	nonsynonymous SNV	NEDD4:NM_198400:exon22:c.T3710C:p.I1237T	.	.	432	1084	5	1	0	7	0.00321839	.	.	3219990	NEDD4-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.999	D	0.999	D	0.000	D	1.000	D	3.595	H	0.11	T	0.139	D	0.488	T	0.902	3.830	19.45	4.94	1.092	9.108	12.744	0.712	0.177741211027	7.7e-05	0.000798722	0.0005	0	0	0	0	6.261e-05	0	0.0031	0.0003752	58	154602	rs373718024	0.0002	0.0002	0.0001	0.0003	0.0029	0.0002	0.0002	0.0026	0.0025	0	0	0	0	0	0.0010	1.979e-05	0.0003	0.0029	0.0001	0.0001	0.0001	0.0001	0.0033	8.164e-05	6.721e-05	0.0021	0.0017	0	0	0	0	0	0	0	2.94e-05	0.0005	0.0033	0.0	0.91255	D	0.0	0.92824	D	0.998	0.77913	D	0.999	0.92359	D	0.000002	0.62929	D	0.101224	1	0.81001	D	3.88	0.95983	H	0.11	0.61208	T	-4.33	0.76740	D	0.901	0.90932	0.139	0.84863	D	0.488	0.80501	T	10	0.122039765	0.23144	T	0.177741	0.85309	D	0.712	0.89741	.	.	0.713894570901	0.71138	0.8213456983268166	0.82091	0.349125871371	0.36770	0.701368331909	0.67341	T	0.348707	0.71666	T	0.0388972	0.56901	T	0.27817	0.87024	D	0.362562087447021	0.27509	T	0.887611	0.61581	D	0.78029686	0.82672	0.66188574	0.80185	0.78029686	0.82674	0.66188574	0.80186	-12.098	0.86777	D	.	.	0.533	0.70296	A	.;.;.;.	.;.;.;.	4.982863	0.82549	27.8	0.99849278155876164	0.92838	0.98506	0.83503	D	ALL	0.868365	0.78846	D	0.829380387876799	0.87903	9.382649	0.731707943471955	0.84783	8.390127	0.999999999990271	0.74766	0.706548	0.73137	0	0.68618	0.66647	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	6.08	4.94	0.64645	9.098000	0.93552	11.203000	0.89108	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.8627:0.1373:0.0:0.0	12.744	0.56642	778	0.48011	.;HECT domain|HECT domain|HECT domain|HECT domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1209.98	35	chr15	55829931	.	A	G	1209.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=772;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=0.227;SOR=0.696	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1095	20	0	1	0
chr15	55869581	55869581	C	G	exonic	NEDD4	.	nonsynonymous SNV	NEDD4:NM_001284340:exon3:c.G1711C:p.E571Q	.	.	445	1052	22	3	0	28	0.0131332	0.9842	0.78	739699	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.25	T	1.0	D	0.975	D	.	.	1.000	N	1.935	M	1.92	T	-0.832	T	0.227	T	0.518	4.253	22.2	5.36	2.682	7.141	18.432	0.341	.	0.0008	0.00179712	0.0098	0	0.0012	0.0008	0.0136	0.0044	0.0191	0.0236	0.0029236	452	154602	rs200302839	0.0023	0.0024	0.0017	0.0029	0.0189	0.0022	0.0022	0.0181	0.0178	0	0.0003	0.0008	2.638e-05	0.0086	0.0074	0.0010	0.0025	0.0189	0.0021	0.0021	0.0014	0.0027	0.0170	0.0019	0.0018	0.0140	0.0129	4.812e-05	0	0.0003	0.0012	0	0.0091	0	0.0018	0.0009	0.0170	0.137	0.25979	T	0.663	0.28860	T	0.609	0.90584	P	0.254	0.73362	B	.	.	.	.	0.867592	0.81001	D	2.25	0.63811	M	-2.91	0.91696	D	-2.14	0.48523	N	0.531	0.55972	-0.8322	0.53159	T	0.227	0.59221	T	9	0.008531868	0.00193	T	.	.	.	0.341	0.66297	.	.	0.931635973363	0.93093	0.3377238512636838	0.33685	.	.	.	.	.	0.251468	0.62172	T	-0.181927	0.23450	T	-0.0191658	0.69083	D	0.0473805698945018	0.05033	T	0.919908	0.78720	D	0.1940468	0.41138	0.17848879	0.40521	0.1940468	0.41138	0.17848879	0.40520	-10.473	0.76692	D	.	.	0.403	0.59727	A	.;.;.	.;.;.	4.758105	0.76898	26.6	0.99652454092928966	0.77380	0.98588	0.84418	D	AEFBI	0.897493	0.83972	D	0.464009259402484	0.65002	4.768017	0.538009565599981	0.70567	5.524293	0.999999999999816	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	7.266000	0.77851	7.633000	0.62825	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.432	0.90575	793	0.45818	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	449.98	35	chr15	55869581	.	C	G	449.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=746;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.33;ReadPosRankSum=-8.080e-01;SOR=0.788	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1080	20	0	1	0
chr15	56094863	56094863	-	GTGGGT	exonic	RFX7	.	nonframeshift insertion	RFX7:NM_001368073:exon9:c.2573_2574insACCCAC:p.T868_S869insPT	.	.	.	.	.	.	.	.	.	.	.	3204951	RFX7-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0	0.0015	0	0	0.0004	0.0059	0.0029	0.0002305	6	26028	rs756499810	0.0007	0.0007	0.0006	0.0008	0.0184	0.0006	0.0006	0.0155	0.0145	0.0006	0.0009	0.0011	2.69e-05	1.988e-05	0.0184	0.0004	0.0010	0.0034	0.0006	0.0006	0.0005	0.0006	0.0019	0.0005	0.0004	0.0014	0.0012	9.664e-05	0	0.0019	0.0006	0	0	0.0138	0.0005	0.0024	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1235.94	34	chr15	56094863	.	A	AGTGGGT	1235.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.905;DP=829;ExcessHet=0.0000;FS=3.994;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=-2.229e+00;SOR=1.129	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1356	20	0	1	0
chr15	56412369	56412369	T	G	exonic	TEX9	.	nonsynonymous SNV	TEX9:NM_001385050:exon6:c.T287G:p.L96W	.	.	436	1061	24	1	0	26	0.0121043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.001	D	1.000	D	2.595	M	-1.8	D	0.587	D	0.723	D	0.978	4.373	23.1	5.77	2.203	6.297	13.469	0.731	.	0.0006	0.00379393	0.0027	0	0.0007	0.0001	0	0.0013	0.0033	0.0143	0.0023997	371	154602	rs138888960	0.0014	0.0015	0.0010	0.0019	0.0142	0.0014	0.0014	0.0136	0.0133	5.977e-05	0.0005	0.0141	2.521e-05	1.872e-05	0.0074	0.0003	0.0024	0.0142	0.0011	0.0011	0.0009	0.0012	0.0135	0.0009	0.0009	0.0108	0.0099	4.812e-05	0	0.0012	0.0121	0	0	0	0.0004	0.0019	0.0135	0.002	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000984	0.40743	D	0.211030	0.999919	0.51042	D	2.98	0.85499	M	-1.8	0.83893	D	-5.31	0.84457	D	0.943	0.95491	0.587	0.91730	D	0.723	0.90510	D	10	0.012893707	0.00275	T	.	.	.	0.731	0.90589	.	.	0.988395186899	0.98827	0.5853811297663031	0.58467	0.0796653918758	0.08968	0.696838080883	0.66687	T	0.539138	0.84188	D	0.0924472	0.63464	D	0.371694	0.91135	D	0.105391751677975	0.12939	T	0.89611	0.72041	D	0.54575557	0.69719	0.7560238	0.85582	0.54575557	0.69720	0.7560238	0.85582	-13.525	0.91409	D	.	.	0.526	0.70994	A	.;.;.	.;.;.	5.148710	0.86229	28.8	0.96552747361804592	0.30229	0.94712	0.62071	D	AEFI	0.700217	0.65731	D	0.806357584445064	0.86503	8.906175	0.776385537658714	0.88109	9.460082	0.999499761303772	0.40007	0.706298	0.61202	0	0.709663	0.81188	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.77	5.77	0.91077	6.723000	0.74552	7.682000	0.65344	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.469	0.60723	394	0.83065	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	373.98	35	chr15	56412369	.	T	G	373.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.67;DP=698;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=-2.003e+00;SOR=0.836	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1104	20	0	1	0
chr15	57252466	57252466	A	G	exonic	TCF12	.	nonsynonymous SNV	TCF12:NM_001306219:exon8:c.A724G:p.M242V	Craniosynostosis 3, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2437661	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.39	T	0.843	P	0.926	D	0.000	D	1.000	D	0	N	0.49	T	-0.832	T	0.172	T	0.787	1.686	11.60	5.62	2.127	9.261	15.810	0.238	0.0296376933601	7.7e-05	0.000199681	3.313e-05	9.662e-05	8.693e-05	0	0	3.01e-05	0	0	5.17e-05	8	154602	rs183106387	5.337e-05	5.336e-05	6.671e-05	3.988e-05	6.711e-05	4.345e-05	4.018e-05	4.987e-05	4.569e-05	2.988e-05	6.711e-05	3.827e-05	0	0	0	6.206e-05	4.968e-05	1.16e-05	7.877e-05	7.874e-05	6.423e-05	9.396e-05	0.0001	4.492e-05	3.509e-05	4.765e-05	3.339e-05	9.619e-05	0	6.534e-05	0	0	0	0	0.0001	0	0	0.617	0.11623	T	0.962	0.11656	T	0.811	0.45403	P	0.879	0.62418	P	0.000000	0.84330	D	0.000000	0.999725	0.81001	D	.	.	.	0.49	0.55775	T	-0.56	0.17210	N	0.842	0.84194	-0.8321	0.53165	T	0.172	0.51452	T	10	0.25130153	0.42468	T	0.029638	0.52109	D	0.238	0.54217	.	.	0.608857795387	0.60571	0.6038990948932514	0.60320	0.515241285779	0.49436	0.851229786873	0.89800	D	0.012	0.12608	T	0.0177099	0.54072	T	-0.0308095	0.68315	D	0.577741682529449	0.35531	D	0.942806	0.81346	D	.	.	.	.	.	.	.	.	-8.522	0.64575	D	.	.	0.593	0.70158	P	.;.;.;.;.	.;.;.;.;.	3.658966	0.51965	23.2	0.95481531289571853	0.27044	0.99279	0.93867	D	AEFBIJ	0.911831	0.87163	D	0.412981009388861	0.62133	4.424586	0.527895216589041	0.69874	5.423111	0.999999999999795	0.74766	0.643511	0.44296	0	0.636889	0.57051	0	0.688494	0.62686	0	0.491896	0.07777	0	.	.	5.62	5.62	0.85714	9.239000	0.94505	11.249000	0.90679	0.731000	0.85647	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.810	0.78321	583	0.69484	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1330.98	37	chr15	57252466	.	A	G	1330.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.510;DP=808;ExcessHet=0.0000;FS=0.693;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=0.448;SOR=0.641	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1418	20	0	1	0
chr15	57528663	57528663	A	G	exonic	CGNL1	.	nonsynonymous SNV	CGNL1:NM_032866:exon13:c.A3049G:p.M1017V	.	.	425	1064	33	0	0	33	0.0152707	.	.	3213679	CGNL1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.17	T	0.0	B	0.001	B	0.157	N	1.000	N	-0.695	N	-0.98	T	-1.012	T	0.110	T	0.201	1.076	9.394	-0.596	0.011	0.331	2.857	0.094	0.0128928824856	0.0031	0.00219649	0.0041	0.0007	0.0017	0	0.0009	0.0047	0.0066	0.0089	0.003868	598	154602	rs143875419	0.0034	0.0034	0.0031	0.0036	0.0160	0.0033	0.0032	0.0133	0.0123	0.0007	0.0015	0.0151	0	0.0006	0.0160	0.0030	0.0046	0.0083	0.0024	0.0024	0.0025	0.0023	0.0054	0.0022	0.0021	0.0038	0.0032	0.0007	0	0.0009	0.0147	0.0002	0.0005	0.0102	0.0034	0.0038	0.0054	0.265	0.16305	T	0.298	0.20486	T	0.0	0.02946	B	0.001	0.04355	B	0.156728	0.17791	N	0.563027	1	0.08975	N	0.755	0.19153	N	-0.98	0.75789	T	-0.99	0.26200	N	0.346	0.38746	-1.0123	0.26196	T	0.110	0.39604	T	10	0.0060846806	0.00137	T	0.012893	0.31852	T	0.094	0.27141	.	.	0.388812400583	0.38497	0.0765844821428655	0.07594	0.0182184612372	0.01780	0.310427963734	0.11972	T	0.091985	0.38910	T	-0.458515	0.01004	T	-0.425287	0.30471	T	0.0058445083489316	0.00064	T	0.717028	0.32946	T	0.047262155	0.08048	0.07580144	0.16726	0.047262155	0.08048	0.07580144	0.16725	-4.751	0.34015	T	.	.	0.125	0.26325	B	.	.	1.777765	0.22607	15.69	0.82642809633882053	0.14299	0.12191	0.17116	N	AEFGBCI	0.120387	0.23454	N	-0.961790081571864	0.09429	0.4462266	-0.873752528690523	0.12717	0.655819	0.997561962709294	0.35763	0.706548	0.73137	0	0.627178	0.54094	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.15	-0.596	0.11072	0.367000	0.20116	2.695000	0.34117	0.731000	0.85647	0.023000	0.19925	1.000000	0.68203	0.998000	0.85391	0.3895:0.328:0.0665:0.2159	2.857	0.05232	350	0.85473	Myosin tail|Myosin tail	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	457.98	34	chr15	57528663	.	A	G	457.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.357e+00;DP=738;ExcessHet=0.0000;FS=4.317;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.16;ReadPosRankSum=-1.090e-01;SOR=0.260	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1310	20	0	1	0
chr15	57544498	57544498	T	C	exonic	CGNL1	.	nonsynonymous SNV	CGNL1:NM_032866:exon16:c.T3401C:p.I1134T	.	.	.	.	.	.	.	.	.	.	.	3216048	not_specified|CGNL1-related_disorder	MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.001	B	0.793	N	0.816	N	-1.385	N	-1.05	T	-0.949	T	0.151	T	0.13	1.768	11.87	3.43	0.420	1.504	9.942	0.165	0.0148160318519	0.0006	0.00119808	0.0002	0.0019	0.0002	0	0	0	0	0	0.0001682	26	154602	rs145843105	5.952e-05	5.951e-05	8.032e-05	3.851e-05	0.0019	4.883e-05	4.562e-05	0.0015	0.0013	0.0019	0.0002	0	0	0	0	2.698e-06	0.0002	0	0.0006	0.0006	0.0005	0.0006	0.0019	0.0005	0.0004	0.0016	0.0015	0.0019	0	0.0004	0	0	0	0	0	0.0005	0	0.33	0.13131	T	0.328	0.18675	T	0.0	0.02946	B	0.001	0.04355	B	0.792890	0.06722	N	1.106850	0.816236	0.28939	N	-1.1	0.00987	N	-1.05	0.76690	T	-0.73	0.20576	N	0.284	0.32148	-0.9485	0.41228	T	0.151	0.47856	T	10	0.0085784495	0.00194	T	0.014816	0.35183	T	0.165	0.42395	.	.	0.467247493403	0.46351	0.02464624071553414	0.02415	0.0192354167532	0.01881	0.354584932327	0.18594	T	0.055719	0.30087	T	-0.475901	0.00782	T	-0.462543	0.26321	T	0.0159312689139693	0.00377	T	0.668933	0.27772	T	0.03061201	0.02756	0.049776383	0.07678	0.03061201	0.02755	0.049776383	0.07678	-2.221	0.04143	T	.	.	0.142	0.31253	B	.	.	1.941015	0.24657	16.48	0.93293560172575685	0.23002	0.59568	0.30951	D	AEFDBI	0.091219	0.18478	N	-0.71313752099941	0.15652	0.7906704	-0.472788303605854	0.22906	1.246531	0.999970289531557	0.50053	0.706548	0.73137	0	0.563428	0.19063	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.82	3.43	0.38372	1.530000	0.35613	2.371000	0.32429	0.644000	0.52426	0.675000	0.28393	0.997000	0.33255	0.991000	0.66497	0.0:0.1444:0.0:0.8556	9.942	0.40756	369	0.84396	Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1791.98	33	chr15	57544498	.	T	C	1791.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.174e+00;DP=1252;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.05;ReadPosRankSum=0.267;SOR=0.660	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,111,1597	20	0	1	0
chr15	58665172	58665172	C	G	exonic	ADAM10	.	nonsynonymous SNV	ADAM10:NM_001110:exon5:c.G510C:p.Q170H	Reticulate acropigmentation of Kitamura, Autosomal dominant	.	421	1099	2	0	0	2	0.000909091	.	.	97566	not_specified|not_provided|Alzheimer_disease_18	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014265,MedGen:C3810041,OMIM:615590	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.19	T	0.001	B	0.004	B	0.000	D	1.000	D	0.755	N	1.82	T	-0.813	T	0.242	T	0.784	2.594	14.63	2.68	0.835	0.640	8.606	0.234	0.0426733317075	0.0004	0.00119808	0.0010	0.0003	0.0020	0.0001	0.0002	0.0012	0.0011	0.0005	0.0009573	148	154602	rs61751103	0.0011	0.0011	0.0011	0.0011	0.0036	0.0010	0.0010	0.0032	0.0030	0.0002	0.0036	0	2.522e-05	0.0001	0.0016	0.0011	0.0010	0.0005	0.0015	0.0015	0.0015	0.0015	0.0067	0.0013	0.0013	0.0057	0.0053	0.0002	0	0.0067	0	0	0	0.0068	0.0015	0.0028	0.0008	0.187	0.65419	T	0.136	0.34009	T	0.001	0.07471	B	0.004	0.10090	B	0.000041	0.55875	D	0.159589	0.991262	0.81001	D	2.015	0.55033	M	1.82	0.78645	T	-0.51	0.15986	N	0.575	0.59732	-0.8134	0.54344	T	0.242	0.61083	T	10	0.01071474	0.00237	T	0.042673	0.60588	D	0.234	0.53644	0.685	0.82271	0.98118260784	0.98097	0.5022992532270973	0.50151	0.286700371962	0.31060	0.415363311768	0.27198	T	0.185215	0.53812	T	-0.133292	0.30963	T	0.0380936	0.72803	D	0.0234099628154045	0.01073	T	0.918808	0.70803	D	0.052908406	0.09936	0.07324593	0.15895	0.0761019	0.17190	0.06596576	0.13444	-2.914	0.09284	T	0.07189721746765113	0.02902	0.155	0.42141	B	.;.	.;.	2.114889	0.26916	17.28	0.99141149560674846	0.53546	0.89520	0.50037	D	AEFBI	0.309714	0.41594	N	-0.325285946502501	0.28192	1.552883	-0.158108847104476	0.33098	1.889731	0.862612383619347	0.25255	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.633917	0.49826	0	.	.	5.6	2.68	0.30839	0.639000	0.24378	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.6984:0.0:0.3016	8.606	0.32933	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	642.98	35	chr15	58665172	.	C	G	642.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.611e+00;DP=748;ExcessHet=0.0000;FS=0.998;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.90;ReadPosRankSum=-9.330e-01;SOR=0.896	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr15	58679228	58679228	A	G	exonic	ADAM10	.	nonsynonymous SNV	ADAM10:NM_001110:exon4:c.T380C:p.F127S	Reticulate acropigmentation of Kitamura, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.013	B	0.038	B	0.000	D	1.000	D	0.93	L	3.31	T	-0.961	T	0.017	T	0.939	4.083	21.0	5.67	2.162	8.920	15.900	0.330	0.0468036735907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.409	0.10180	T	0.516	0.10607	T	0.007	0.14184	B	0.026	0.20792	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.08	0.57402	M	3.31	0.06291	T	-0.78	0.21644	N	0.935	0.94077	-0.9607	0.39050	T	0.017	0.07092	T	10	0.85673785	0.84874	D	0.046804	0.62629	D	0.330	0.65226	0.818	0.93195	0.750870991732	0.74862	0.7810347544278903	0.78054	0.553159282221	0.52090	0.677485346794	0.63908	T	0.101358	0.40805	T	0.194837	0.73410	D	0.042093	0.73064	D	0.715053021907806	0.41450	D	0.922708	0.71908	D	0.5953555	0.72440	0.5304736	0.72871	0.5953555	0.72442	0.5304736	0.72871	-8.731	0.65949	D	0.1890421041001883	0.24712	0.650	0.70937	P	.	.	4.221973	0.63864	24.6	0.99776152517939554	0.86346	0.98859	0.87803	D	AEFGBI	0.936427	0.93272	D	0.0111440760784277	0.42361	2.550938	0.230508985727639	0.51549	3.336423	0.999999999982885	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.67	5.67	0.87673	8.905000	0.92214	.	.	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.900	0.79150	945	0.12563	Peptidase M12B, propeptide	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	82.98	41	chr15	58679228	.	A	G	82.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.990e+00;DP=754;ExcessHet=0.0000;FS=45.794;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.30;ReadPosRankSum=1.35;SOR=5.132	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1237	20	0	1	0
chr15	58679229	58679229	A	G	exonic	ADAM10	.	nonsynonymous SNV	ADAM10:NM_001110:exon4:c.T379C:p.F127L	Reticulate acropigmentation of Kitamura, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.001	B	0.008	B	0.000	D	1.000	D	2.175	M	3.48	T	-1.049	T	0.025	T	0.878	3.506	17.92	5.67	2.162	8.920	15.900	0.271	0.0308426739969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.659	0.04713	T	0.786	0.04247	T	0.001	0.07471	B	0.008	0.13708	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.425	0.70256	M	3.48	0.05130	T	-1.05	0.27463	N	0.832	0.82761	-1.0492	0.14621	T	0.025	0.10553	T	10	0.5821212	0.65908	D	0.030843	0.53068	D	0.271	0.58633	0.435	0.48664	0.709354412968	0.70681	0.7320703265798069	0.73152	0.355086823408	0.37273	0.697846770287	0.66833	T	0.132989	0.46340	T	0.168356	0.70972	D	0.00405502	0.70598	D	0.940934717655182	0.61372	D	0.956104	0.83363	D	0.58675337	0.71975	0.49563286	0.70832	0.58675337	0.71976	0.49563286	0.70832	-7.085	0.54652	T	0.3824464867043131	0.47668	0.905	0.83091	P	.	.	4.067430	0.60402	24.2	0.99704682104758291	0.80867	0.98859	0.87803	D	AEFGBI	0.933045	0.92432	D	0.0815813711254063	0.45603	2.814187	0.263518944222337	0.53424	3.511277	0.999999999982885	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.67	5.67	0.87673	8.905000	0.92214	.	.	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.900	0.79150	945	0.12563	Peptidase M12B, propeptide	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	82.98	41	chr15	58679229	.	A	G	82.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.342e+00;DP=755;ExcessHet=0.0000;FS=45.794;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.30;ReadPosRankSum=1.32;SOR=5.132	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1237	20	0	1	0
chr15	58771970	58771970	A	G	exonic	MINDY2	.	nonsynonymous SNV	MINDY2:NM_001040450:exon1:c.A575G:p.N192S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.91	T	0.458	P	0.121	B	0.226	N	0.980	D	0.55	N	0.81	T	-1.018	T	0.047	T	0.02	1.522	11.04	-0.069	0.110	2.974	1.750	0.130	0.00546663764909	8.3e-05	.	7.332e-05	0	0.0003	0	0	6.341e-05	0	0	5.17e-05	8	154602	rs368984789	4.574e-05	4.925e-05	5.436e-05	3.695e-05	0.0001	3.677e-05	3.35e-05	5.054e-05	3.263e-05	9.302e-05	0.0001	0	0.0001	9.688e-05	0	4.022e-05	1.706e-05	3.813e-05	5.253e-05	5.25e-05	5.14e-05	5.371e-05	9.617e-05	2.556e-05	1.829e-05	3.241e-05	1.909e-05	9.617e-05	0	6.536e-05	0	0	0	0	4.411e-05	0	0	0.128	0.27194	T	0.483	0.11795	T	0.329	0.36312	B	0.057	0.32300	B	0.226274	0.16021	N	0.624920	0.979595	0.39578	D	.	.	.	0.84	0.48460	T	-0.92	0.24676	N	0.442	0.48042	-1.0181	0.24334	T	0.047	0.19998	T	10	0.06487107	0.08669	T	0.005467	0.14075	T	0.130	0.35528	.	.	0.199424873507	0.19547	0.137803877499157	0.13704	0.09024269904	0.10180	0.586895227432	0.51056	T	0.014383	0.12256	T	-0.483089	0.00710	T	-0.662401	0.08105	T	0.0364027189356911	0.03051	T	0.829717	0.49530	T	0.060628165	0.12462	0.06764972	0.14024	0.060628165	0.12461	0.06764972	0.14024	-1.546	0.01861	T	.	.	0.061	0.03231	B	.;.	.;.	2.788049	0.36639	20.3	0.83091231121808828	0.14537	0.55573	0.29898	D	AEFDGBHCI	0.371851	0.45771	N	-0.517958031383939	0.21500	1.141403	-0.428611642531477	0.24161	1.321576	0.999999777651831	0.74766	0.468429	0.09910	2	0.56911	0.20461	1	0.504199	0.09095	0	0.249971	0.05119	0	.	.	3.59	-0.0687	0.13087	2.715000	0.46879	.	.	0.665000	0.62972	1.000000	0.71638	0.995000	0.32472	0.995000	0.73285	0.555:0.1483:0.1521:0.1445	1.750	0.02791	908	0.22609	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1042.98	33	chr15	58771970	.	A	G	1042.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.394e+00;DP=811;ExcessHet=0.0000;FS=5.438;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=-1.620e-01;SOR=0.824	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1069	20	0	1	0
chr15	58894488	58894488	C	G	exonic	SLTM	.	nonsynonymous SNV	SLTM:NM_001013843:exon10:c.G1268C:p.C423S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.946	P	0.721	P	0.000	D	1.000	D	2.525	M	-0.85	T	0.106	D	0.510	D	0.891	3.613	18.39	5.04	2.831	6.081	15.592	0.660	0.10399616103	.	.	4.12e-05	0	0	0	0	7.493e-05	0	0	3.23e-05	5	154602	rs775102735	1.71e-05	1.71e-05	1.361e-05	2.063e-05	2.158e-05	1.174e-05	9.92e-06	1.46e-05	1.227e-05	0	0	0	0	0	0	2.158e-05	1.656e-05	0	1.314e-05	1.313e-05	0	2.69e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.003	0.68238	D	0.0	0.92824	D	0.946	0.53363	P	0.721	0.54900	P	0.000005	0.62929	D	0.000000	1	0.81001	D	2.145	0.60081	M	-0.85	0.74371	T	-9.08	0.98526	D	0.831	0.82660	0.106	0.84287	D	0.510	0.81584	D	10	0.9053169	0.89896	D	0.103996	0.77834	D	0.660	0.87283	0.709	0.84509	0.770414230742	0.76831	0.781053207614071	0.78056	0.623661094439	0.56596	0.822001099586	0.85335	D	0.477	0.80736	T	0.210672	0.74893	D	0.245136	0.85387	D	0.897842586040497	0.54983	D	0.89751	0.70605	D	0.761187	0.81523	0.728835	0.83979	0.761187	0.81525	0.728835	0.83980	-10.155	0.74835	D	0.6235031819862665	0.69212	0.868	0.85851	P	.;.;.	.;.;.	4.161023	0.62489	24.5	0.99263320241619213	0.57289	0.98913	0.88541	D	AEFBI	0.862351	0.78063	D	0.569604555129216	0.71283	5.627493	0.515096690347584	0.69004	5.29896	0.999999632550615	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.96	5.04	0.67293	6.165000	0.71729	6.005000	0.52551	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.610000	0.31640	0.0:0.9332:0.0:0.0668	15.592	0.76282	480	0.77422	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;.;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1498.98	35	chr15	58894488	.	C	G	1498.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=848;ExcessHet=0.0000;FS=0.642;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=-2.040e-01;SOR=0.762	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1194	20	0	1	0
chr15	59058487	59058487	T	A	exonic	RNF111	.	nonsynonymous SNV	RNF111:NM_001270528:exon5:c.T1303A:p.S435T	.	.	444	1054	22	2	0	26	0.0121837	.	.	714511	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.08	T	0.152	B	0.107	B	0.001	D	0.687	D	0.695	N	2.41	T	-1.053	T	0.021	T	0.394	3.046	16.17	3.79	1.112	0.848	9.281	0.041	0.00771183391032	0.0015	0.00199681	0.0020	0.0007	0.0041	0	0	0.0025	0.0022	0.0013	0.0018823	291	154602	rs142293140	0.0016	0.0016	0.0016	0.0016	0.0241	0.0015	0.0015	0.0209	0.0196	0.0012	0.0038	0.0049	0	0	0.0241	0.0013	0.0032	0.0017	0.0016	0.0017	0.0015	0.0018	0.0044	0.0015	0.0014	0.0036	0.0033	0.0007	0.0033	0.0044	0.0040	0	0	0.0137	0.0016	0.0061	0.0017	0.004	0.68238	D	0.192	0.28860	T	0.152	0.28062	B	0.107	0.31211	B	0.000812	0.41658	D	0.285166	0.686965	0.33289	D	1.355	0.33814	L	2.41	0.15492	T	-0.35	0.29114	N	0.52	0.56317	-1.0527	0.13655	T	0.021	0.09009	T	10	0.0036854148	0.00068	T	0.007712	0.20457	T	0.041	0.10877	.	.	0.305926609036	0.30200	0.13337447934817176	0.13261	0.031808605618	0.03299	0.409914076328	0.26444	T	0.102497	0.41028	T	-0.461876	0.00957	T	-0.437703	0.29065	T	0.0246301174928638	0.01225	T	0.825917	0.49049	T	0.09783147	0.23067	0.14426728	0.34257	0.09783147	0.23067	0.14426728	0.34256	-3.812	0.21059	T	.	.	0.073	0.07272	B	.;.;.;.;.	.;.;.;.;.	2.225688	0.28409	17.79	0.98288512908733516	0.39926	0.78277	0.38595	D	AEFDBI	0.076830	0.15464	N	-0.210799409194394	0.32690	1.846336	-0.0386504913373798	0.37985	2.231625	0.996372299237139	0.34702	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.07	3.79	0.42757	1.203000	0.31890	3.459000	0.38500	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.2023:0.0:0.7977	9.281	0.36888	525	0.74024	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	872.98	34	chr15	59058487	.	T	A	872.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.250e-01;DP=752;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.47;ReadPosRankSum=0.882;SOR=0.788	GT:AD:DP:GQ:PL	0/1:34,36:70:99:887,0,826	20	0	1	0
chr15	59205423	59205423	G	C	exonic	MYO1E	.	nonsynonymous SNV	MYO1E:NM_004998:exon15:c.C1593G:p.I531M,	Glomerulosclerosis, focal segmental, 6, Autosomal recessive	.	0	1513	9	0	0	9	0.0029654	.	.	390233	not_specified|Microscopic_hematuria|Kidney_disorder|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0002907,MedGen:C0239937|Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.995	D	0.986	D	0.000	D	1.000	D	2.19	M	-2.3	D	0.160	D	0.600	D	0.767	3.023	16.09	-4.78	-0.811	0.111	9.068	0.613	.	0.0065	0.00159744	0.0069	0.0019	0.0013	0	0.0239	0.0092	0.0044	0.0019	0.006921	1070	154602	rs140447165	0.0087	0.0087	0.0090	0.0084	0.0099	0.0086	0.0085	0.0098	0.0097	0.0008	0.0012	0.0021	0	0.0195	0.0003	0.0099	0.0061	0.0018	0.0064	0.0064	0.0060	0.0067	0.0091	0.0060	0.0059	0.0085	0.0083	0.0014	0	0.0018	0.0012	0	0.0226	0	0.0091	0.0033	0.0025	0.001	0.78490	D	0.005	0.72224	D	0.995	0.67487	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2	0.54354	M	-2.3	0.87671	D	-2.34	0.51811	N	0.855	0.85132	0.160	0.85223	D	0.600	0.85753	D	10	0.015333265	0.00322	T	.	.	.	0.613	0.84879	.	.	0.839400369685	0.83786	0.4769629184325379	0.47616	0.699661806568	0.61046	0.675327539444	0.63600	T	0.742465	0.92878	D	-0.132624	0.31072	T	0.0490424	0.73521	D	0.0556427014271906	0.06464	T	0.984402	0.94639	D	0.7344658	0.79977	0.68983847	0.81751	0.7450149	0.80582	0.68145686	0.81281	-10.722	0.78111	D	.	.	0.276	0.50997	B	.	.	2.206621	0.28145	17.70	0.99169010746788711	0.54326	0.87299	0.46796	D	AEFBI	0.334843	0.43347	N	-0.265317804528077	0.30496	1.701018	-0.415142904420488	0.24553	1.345132	0.999042003454734	0.38290	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.0	-4.78	0.02975	0.035000	0.13685	-2.746000	0.03404	-0.791000	0.03245	0.811000	0.29866	0.000000	0.08366	0.968000	0.53726	0.7184:0.0:0.1589:0.1227	9.068	0.35637	333	0.86326	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	2204.98	43	chr15	59205423	.	G	C	2204.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.790e-01;DP=882;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=2.16;SOR=0.739	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1144	20	0	1	0
chr15	61920571	61920571	T	C	exonic	VPS13C	.	nonsynonymous SNV	VPS13C:NM_017684:exon54:c.A7010G:p.H2337R	Parkinson disease 23, autosomal recessive, early onset, Autosomal recessive	.	441	1056	19	6	0	31	0.0144657	.	.	714521	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.46	T	0.0	B	0.003	B	0.002	N	0.953	N	0.69	N	0.97	T	-1.047	T	0.043	T	0.144	1.427	10.71	2.33	0.467	0.611	8.859	0.033	.	0.0032	0.00399361	0.0045	0.0011	0.0020	0	0.0011	0.0047	0.0045	0.0119	0.0044049	681	154602	rs139993005	0.0038	0.0039	0.0034	0.0042	0.0118	0.0037	0.0037	0.0112	0.0109	0.0004	0.0028	0.0071	5.203e-05	0.0013	0.0092	0.0035	0.0045	0.0118	0.0037	0.0037	0.0036	0.0038	0.0143	0.0034	0.0033	0.0116	0.0106	0.0008	0	0.0065	0.0089	0	0.0013	0.0034	0.0044	0.0066	0.0143	0.508	0.23541	T	.	.	.	0.0	0.02946	B	0.001	0.08700	B	0.001816	0.37945	N	0.307488	0.952639	0.26432	N	1.32	0.33002	L	0.97	0.42502	T	-1.93	0.47008	N	0.098	0.08646	-1.0467	0.15332	T	0.043	0.18535	T	10	0.0075288117	0.00171	T	.	.	.	0.033	0.08068	.	.	0.159798565429	0.15598	0.27352204920263923	0.27265	0.0252766451605	0.02574	0.339246153831	0.16325	T	0.026155	0.19414	T	-0.549585	0.00293	T	-0.552822	0.17056	T	0.00392637551104399	0.00042	T	0.670833	0.27951	T	0.05588135	0.10919	0.06604316	0.13472	0.04874225	0.08542	0.049082384	0.07424	-3.096	0.12726	T	0.13853481815721805	0.15336	0.074	0.04889	B	.;.;.;.;.;.	.;.;.;.;.;.	2.211962	0.28218	17.72	0.89270741776429363	0.18654	0.85309	0.44430	D	AEBI	0.115928	0.22774	N	-0.619862107068032	0.18348	0.9518731	-0.435641988138989	0.23959	1.309383	0.00472150463971071	0.10688	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.84	2.33	0.27981	0.801000	0.26716	-0.297000	0.10145	-0.133000	0.13014	1.000000	0.71638	0.001000	0.17328	0.990000	0.65344	0.0:0.2132:0.0:0.7868	8.859	0.34403	913	0.21160	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1292.98	33	chr15	61920571	.	T	C	1292.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.122e+00;DP=838;ExcessHet=0.0000;FS=3.138;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.80;ReadPosRankSum=-8.920e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1228	20	0	1	0
chr15	61954420	61954420	C	T	splicing	VPS13C	NM_020821:exon38:c.4299+1G>A;NM_017684:exon36:c.4170+1G>A;NM_018080:exon36:c.4170+1G>A;NM_001018088:exon38:c.4299+1G>A	.	.	Parkinson disease 23, autosomal recessive, early onset, Autosomal recessive	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.159	21.5	5.72	2.859	3.745	15.721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1290887186	1.378e-06	1.368e-06	1.37e-06	1.386e-06	1.209e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.02e-07	0	1.209e-05	6.577e-06	6.569e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550057	0.95802	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.	.;.;.;.;.;.	6.592685	0.95453	35	0.99350346473621953	0.60574	0.89242	0.49589	D	AEFBI	.	.	.	1.10541559414863	0.98233	17.74342	0.967629749978471	0.97897	16.98603	0.994346817853429	0.33595	0.163922	0.03765	0	0.156668	0.03792	0	0.083675	0.02720	0	0.109871	0.03346	0	0.984129	0.91203	5.72	5.72	0.89380	3.304000	0.51572	7.669000	0.64672	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.721	0.77470	903	0.23940	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1024.98	79	chr15	61954420	.	C	T	1024.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.352;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.97;ReadPosRankSum=-1.192e+00;SOR=0.730	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1170	20	0	1	0
chr15	62068167	62068167	C	G	exonic	C2CD4A	.	nonsynonymous SNV	C2CD4A:NM_207322:exon2:c.C554G:p.P185R,	.	.	439	1030	50	3	0	56	0.026465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.926	P	0.528	P	0.020	N	1.000	N	2.3	M	1.54	T	-1.036	T	0.089	T	0.155	2.429	14.08	2.27	0.540	1.115	5.297	0.048	.	.	0.0131789	0.03	.	.	.	.	0	.	0.0349	0.0009379	145	154602	rs559668449	0.0070	0.0059	0.0070	0.0070	0.0219	0.0069	0.0068	0.0196	0.0190	0.0013	0.0054	0.0016	0	0.0004	0.0219	0.0071	0.0080	0.0210	0.0050	0.0050	0.0048	0.0052	0.0240	0.0047	0.0046	0.0205	0.0192	0.0011	0	0.0077	0.0023	0.0002	0.0001	0.0103	0.0066	0.0086	0.0240	0.19	0.21144	T	0.466	0.12386	T	0.926	0.51467	P	0.528	0.48482	P	0.020106	0.27110	N	0.407190	1	0.08975	N	2.23	0.63091	M	1.54	0.30133	T	-2.83	0.59710	D	0.106	0.09066	-1.0358	0.18606	T	0.089	0.34271	T	10	0.0044558644	0.00091	T	.	.	.	0.048	0.13305	.	.	0.415564226483	0.41173	0.07747823605056867	0.07683	.	.	0.872018814087	0.92856	D	0.03263	0.22570	T	-0.537915	0.00345	T	-0.535066	0.18784	T	0.171884057492972	0.18707	T	0.483152	0.14651	T	0.09187982	0.21540	0.20716713	0.44964	0.09187982	0.21540	0.20716713	0.44963	-3.416	0.15273	T	.	.	0.178	0.38889	B	.	.	3.650064	0.51800	23.1	0.98715369769127048	0.45113	0.13037	0.17627	N	AEFDBCI	0.110325	0.21882	N	-0.298369936313342	0.29211	1.617939	-0.515289432310434	0.21738	1.177369	0.995113771093858	0.33959	0.437478	0.07067	0	0.491552	0.07993	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.19	2.27	0.27501	1.022000	0.29655	4.841000	0.45285	0.426000	0.20854	0.002000	0.15269	0.653000	0.25975	0.253000	0.23340	0.2009:0.6818:0.0:0.1173	5.297	0.15066	868	0.31772	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	225.46	21	chr15	62068167	.	C	G	225.46	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.970e-01;DP=462;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0488;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.05;ReadPosRankSum=1.83;SOR=0.838	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,897	19	0	2	0
chr15	62068224	62068224	T	A	exonic	C2CD4A	.	nonsynonymous SNV	C2CD4A:NM_207322:exon2:c.T611A:p.V204D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.039	B	0.024	B	0.019	N	0.836	N	0.69	N	1.65	T	-1.024	T	0.037	T	0.122	1.073	9.379	2.42	0.612	1.676	5.737	0.031	0.0155429438863	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1171874330	6.549e-06	6.156e-06	8.031e-06	5.008e-06	7.042e-06	2.82e-06	2.04e-06	2.93e-06	1.88e-06	0	0	0	0	0	0	7.042e-06	2.038e-05	0	6.621e-06	6.573e-06	1.294e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	0.638	0.05031	T	0.624	0.07342	T	0.039	0.21116	B	0.024	0.20255	B	0.019004	0.27353	N	0.385369	0.835969	0.28696	N	0.69	0.16971	N	1.65	0.27650	T	0.54	0.02764	N	0.127	0.12055	-1.0243	0.22311	T	0.037	0.16160	T	10	0.0422149	0.02949	T	0.015543	0.36328	T	0.031	0.07369	0.279	0.23323	0.167679373172	0.16340	0.09040664845713599	0.08973	.	.	0.891415476799	0.95436	D	0.011932	0.10575	T	-0.399278	0.02340	T	-0.6304	0.10384	T	0.0477720885755415	0.05103	T	0.407759	0.10493	T	0.115256846	0.27199	0.14923653	0.35245	0.115256846	0.27199	0.14923653	0.35244	-3.625	0.18219	T	.	.	0.122	0.25331	B	.	.	1.572929	0.20133	14.61	0.75974029367830065	0.11284	0.04997	0.10772	N	AEFDGBCIJ	0.027459	0.02246	N	-1.03875481546392	0.07809	0.3640724	-0.986560112950838	0.10087	0.5058264	0.999947381255128	0.47345	0.437478	0.07067	0	0.491552	0.07993	0	0.606814	0.37721	0	0.621717	0.48901	0	.	.	3.42	2.42	0.28720	1.462000	0.34876	0.113000	0.14809	-0.776000	0.03386	0.002000	0.15269	0.000000	0.08366	0.045000	0.14751	0.1905:0.697:0.0:0.1126	5.737	0.17339	868	0.31772	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	248.98	35	chr15	62068224	.	T	A	248.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.27;DP=624;ExcessHet=0.0000;FS=1.744;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.89;ReadPosRankSum=0.960;SOR=1.284	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	20	0	1	0
chr15	62698842	62698842	C	T	exonic	TLN2	.	nonsynonymous SNV	TLN2:NM_015059:exon13:c.C1562T:p.S521L,	.	.	433	1086	3	0	0	3	0.00137931	.	.	2425120	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	0.001	B	0.009	B	0.001	D	1.000	N	0.345	N	-0.31	T	-0.995	T	0.133	T	0.213	2.622	14.73	4.04	2.767	2.383	7.964	0.070	0.00933984891806	.	0.000199681	0.0003	0	0.0002	0.0001	0	0.0002	0	0.0013	0.0002652	41	154602	rs576320794	0.0002	0.0002	0.0002	0.0003	0.0028	0.0002	0.0002	0.0017	0.0014	8.962e-05	0.0005	0	0.0001	1.914e-05	0.0028	0.0001	0.0003	0.0014	0.0002	0.0002	0.0001	0.0003	0.0017	0.0002	0.0001	0.0008	0.0006	4.813e-05	0	0.0009	0	0.0004	0	0	0.0001	0	0.0017	0.286	0.15201	T	0.309	0.19782	T	0.001	0.07471	B	0.009	0.14300	B	0.000667	0.42516	D	0.258020	0.835999	0.28696	N	0.55	0.14455	N	-0.31	0.68030	T	-2.54	0.55025	D	0.338	0.37923	-0.9949	0.31326	T	0.133	0.44642	T	10	0.02178353	0.00529	T	0.00934	0.24506	T	.	.	.	.	0.216943180021	0.21308	0.2894602313594382	0.28859	0.195102303501	0.21846	0.456956207752	0.32893	T	0.633557	0.88673	D	-0.41944	0.01724	T	-0.415806	0.31556	T	0.037588671820096	0.03260	T	0.947805	0.79866	D	0.100940675	0.23840	0.090044886	0.21094	0.100940675	0.23840	0.090044886	0.21093	-5.449	0.41388	T	.	.	0.104	0.18787	B	.	.	4.097332	0.61070	24.3	0.99699921706261108	0.80522	0.86986	0.46394	D	AEFDBCI	0.334570	0.43329	N	-0.181771343922944	0.33894	1.928215	0.0140493791332339	0.40366	2.407887	0.996146963696278	0.34553	0.758104	0.99027	0	0.61073	0.52368	0	0.691618	0.62860	0	0.586402	0.36253	0	.	.	5.02	4.04	0.46262	1.560000	0.35939	4.123000	0.41985	0.599000	0.40250	0.243000	0.24778	0.999000	0.35428	0.979000	0.57723	0.3149:0.5581:0.1271:0.0	7.964	0.29246	917	0.20147	Talin, central	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	915.98	34	chr15	62698842	.	C	T	915.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.306e+00;DP=807;ExcessHet=0.0000;FS=2.032;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=1.09;SOR=0.452	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr15	62702857	62702857	G	A	exonic	TLN2	.	nonsynonymous SNV	TLN2:NM_015059:exon16:c.G1997A:p.R666Q,	.	.	429	1087	5	1	0	7	0.00320954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.007	B	0.002	B	0.000	N	1.000	D	0.58	N	-0.26	T	-0.922	T	0.184	T	0.171	2.224	13.39	5.65	2.824	5.510	20.096	0.063	0.00434354207226	0.0025	0.00179712	0.0024	0.0008	0.0004	0.0003	0.0009	0.0034	0.0011	0.0028	0.0025355	392	154602	rs144036109	0.0037	0.0037	0.0037	0.0037	0.0041	0.0036	0.0036	0.0040	0.0040	0.0007	0.0006	0.0087	2.519e-05	0.0016	0.0009	0.0041	0.0028	0.0030	0.0022	0.0022	0.0026	0.0018	0.0032	0.0020	0.0019	0.0028	0.0027	0.0011	0	0.0010	0.0104	0.0002	0.0009	0	0.0032	0.0024	0.0019	0.37	0.11550	T	0.446	0.13103	T	0.007	0.14184	B	0.002	0.06944	B	0.000121	0.49741	N	0.161294	0.999311	0.46639	D	0.18	0.09070	N	-0.26	0.67187	T	-0.47	0.15178	N	0.345	0.38643	-0.9220	0.45279	T	0.184	0.53255	T	10	0.00924021	0.00209	T	0.004344	0.10561	T	.	.	.	.	0.412176505671	0.40830	0.24955817701579644	0.24869	0.25343202571	0.27911	0.59320807457	0.51947	T	0.113814	0.43114	T	-0.445526	0.01200	T	-0.407617	0.32499	T	0.015177593802826	0.00331	T	0.888611	0.61875	D	0.098439634	0.23219	0.10136602	0.24263	0.098439634	0.23219	0.10136602	0.24262	-7.756	0.59396	D	.	.	0.075	0.05711	B	.	.	4.495014	0.70253	25.5	0.99475372763801351	0.66579	0.94924	0.62804	D	AEFDBI	0.554974	0.56560	D	-0.0701388921925627	0.38706	2.271198	0.151102332121979	0.47200	2.953881	0.99325067964115	0.33144	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.65	5.65	0.86881	4.816000	0.62333	6.004000	0.52535	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.241000	0.23027	0.0:0.0:1.0:0.0	20.096	0.97848	916	0.20744	I/LWEQ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1132.98	33	chr15	62702857	.	G	A	1132.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.510;DP=863;ExcessHet=0.0000;FS=2.569;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.199;SOR=1.038	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,99,1485	20	0	1	0
chr15	62708509	62708509	G	A	exonic	TLN2	.	nonsynonymous SNV	TLN2:NM_015059:exon18:c.G2180A:p.S727N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.764	P	0.41	B	0.000	D	1.000	D	1.39	L	-0.44	T	-0.474	T	0.278	T	0.256	4.320	22.7	5.25	2.604	3.931	19.197	0.205	0.0316390951372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	2.052e-06	1.362e-06	2.754e-06	0.0003	5.5e-07	1.5e-07	6.094e-05	2.522e-05	2.99e-05	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.764	0.43716	P	0.41	0.44785	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.245	0.31408	L	-0.44	0.69777	T	-2.62	0.56301	D	0.604	0.62188	-0.4745	0.69566	T	0.278	0.64946	T	10	0.394108	0.55101	T	0.031639	0.53671	D	.	.	0.367	0.37524	0.385232620033	0.38131	0.6057013101734646	0.60501	0.300831044589	0.32437	0.795703887939	0.81309	T	0.391986	0.75177	T	-0.034678	0.46733	T	-0.287589	0.46022	T	0.966170370578766	0.67499	D	0.948005	0.79945	D	0.769413	0.82013	0.6527176	0.79675	0.769413	0.82014	0.6527176	0.79676	-12.499	0.87196	D	.	.	0.773	0.76054	P	.	.	4.397194	0.67907	25.2	0.9936056757589512	0.60987	0.97994	0.78718	D	AEFBI	0.596615	0.59071	D	0.402902260827276	0.61581	4.361253	0.472369466576382	0.66167	4.916766	0.999999999993177	0.74766	0.626454	0.40138	0	0.588015	0.36545	0	0.80507	0.99327	0	0.586402	0.36253	0	.	.	5.25	5.25	0.73169	3.415000	0.52455	5.986000	0.52250	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	19.197	0.93679	920	0.19381	I/LWEQ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	714.98	33	chr15	62708509	.	G	A	714.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.892;DP=722;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.25;ReadPosRankSum=0.470;SOR=0.957	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1270	20	0	1	0
chr15	62771123	62771123	G	A	exonic	TLN2	.	nonsynonymous SNV	TLN2:NM_015059:exon39:c.G5356A:p.G1786R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	2.52	M	2.56	T	-0.984	T	0.123	T	0.883	4.843	27.6	5.39	2.804	9.601	19.356	0.546	0.0570610229441	.	.	2.48e-05	0	0	0	0	4.506e-05	0	0	1.94e-05	3	154602	rs759518913	1.578e-05	1.847e-05	1.773e-05	1.381e-05	2.995e-05	1.051e-05	8.78e-06	1.298e-05	1.109e-05	2.995e-05	0	0	0	0	0	1.983e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.046	0.61642	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.094954	1	0.81001	D	2.545	0.74286	M	2.56	0.13673	T	-7.66	0.95842	D	0.853	0.84922	-0.9841	0.34045	T	0.123	0.42547	T	10	0.80184096	0.79575	D	0.057061	0.66831	D	.	.	0.363	0.36874	0.423328145879	0.41948	0.8706335251482362	0.87029	0.863917638796	0.69099	0.827391803265	0.86163	D	0.836261	0.96139	D	0.177413	0.71805	D	0.0807105	0.75625	D	0.999083399772644	0.96125	D	0.997023	0.98856	D	0.86893195	0.88777	0.8483145	0.91392	0.86893195	0.88778	0.8483145	0.91392	-10.807	0.78589	D	.	.	0.998	0.97573	P	.;.;.;.	.;.;.;.	5.288045	0.88783	29.7	0.99922678319917835	0.98852	0.95750	0.65995	D	ALL	0.945622	0.95413	D	0.890002161201587	0.91260	10.79495	0.835519687340598	0.92143	11.25936	1.0	0.98316	0.675385	0.55134	0	0.573888	0.26702	0	0.693117	0.63056	0	0.567892	0.33627	0	.	.	5.39	5.39	0.77615	10.003000	0.99689	11.748000	0.95342	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.625000	0.32026	0.0:0.0:1.0:0.0	19.356	0.94403	920	0.19381	Talin-1/2, rod-segment;Talin-1/2, rod-segment;Talin-1/2, rod-segment;Talin-1/2, rod-segment	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1664.98	43	chr15	62771123	.	G	A	1664.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.74;DP=911;ExcessHet=0.0000;FS=0.831;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.73;ReadPosRankSum=2.60;SOR=0.868	GT:AD:DP:GQ:PL	0/1:59,54:113:99:1679,0,1701	20	0	1	0
chr15	62809976	62809976	C	T	exonic	TLN2	.	nonsynonymous SNV	TLN2:NM_015059:exon49:c.C6715T:p.R2239C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.986	D	0.462	P	0.003	N	1.000	D	1.7	L	-0.4	T	-0.509	T	0.260	T	0.619	3.280	17.01	4.75	2.696	3.087	13.768	0.251	0.0198232375553	.	.	5.785e-05	0	0	0	0	9.01e-05	0	6.106e-05	4.53e-05	7	154602	rs754915891	2.189e-05	2.189e-05	1.77e-05	2.613e-05	0.0003	1.584e-05	1.356e-05	6.092e-05	2.521e-05	0	6.708e-05	0	0	0	0.0003	2.068e-05	3.311e-05	2.319e-05	1.315e-05	1.314e-05	2.571e-05	0	6.551e-05	2.19e-06	8.2e-07	.	.	0	0	6.551e-05	0	0	0	0	1.47e-05	0	0	0.051	0.39334	T	0.052	0.47581	T	0.986	0.61523	D	0.462	0.46509	P	0.002728	0.36034	N	0.270111	0.999952	0.52396	D	1.355	0.33814	L	-0.4	0.69287	T	-2.71	0.62518	D	0.639	0.65159	-0.5090	0.68323	T	0.260	0.63088	T	10	0.26975217	0.44502	T	0.019823	0.42278	T	.	.	0.442	0.49811	0.470684501043	0.46696	0.3382385023636466	0.33736	0.515258437671	0.49436	0.456845343113	0.32878	T	0.457154	0.79564	T	-0.0914955	0.37829	T	-0.172232	0.57239	T	0.258681327104568	0.23257	T	0.992251	0.97542	D	0.14525817	0.33305	0.1032847	0.24779	0.14525817	0.33304	0.1032847	0.24778	-9.386	0.70147	D	.	.	0.089	0.12181	B	.;.;.	.;.;.	4.559507	0.71841	25.7	0.99917396618096543	0.98518	0.92727	0.56398	D	AEFDGBI	0.521286	0.54578	D	0.40008626822782	0.61428	4.344	0.414470729725649	0.62464	4.462397	0.999996732492924	0.74766	0.706298	0.61202	0	0.627178	0.54094	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.7	4.75	0.59954	3.202000	0.50769	3.227000	0.36886	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.517000	0.29406	0.2762:0.7238:0.0:0.0	13.768	0.62497	904	0.23766	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2092.98	36	chr15	62809976	.	C	T	2092.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.71;DP=859;ExcessHet=0.0000;FS=4.606;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.76;ReadPosRankSum=-1.928e+00;SOR=1.061	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1253	20	0	1	0
chr15	62838946	62838946	G	A	exonic	TLN2	.	nonsynonymous SNV	TLN2:NM_015059:exon55:c.G7465A:p.V2489I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.73	P	0.728	P	0.000	D	1.000	D	1.48	L	0.97	T	-0.992	T	0.183	T	0.25	3.981	20.4	5.67	2.671	8.009	19.766	0.123	0.00563018066897	.	.	2.471e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs766423007	8.893e-06	8.893e-06	2.722e-06	1.513e-05	0.0001	4.96e-06	3.82e-06	7.124e-05	5.482e-05	0	0	0	0	0	0	8.993e-07	1.656e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.17014	T	0.519	0.21612	T	0.73	0.42641	P	0.728	0.55195	P	0.000000	0.84330	D	0.000000	0.999944	0.51968	D	1.29	0.32370	L	0.97	0.42502	T	-0.59	0.17624	N	0.294	0.33250	-0.9919	0.32115	T	0.183	0.53133	T	10	0.26179022	0.43642	T	0.00563	0.14560	T	.	.	0.501	0.59304	0.319921171382	0.31595	0.14202250996768132	0.14125	0.41031363542	0.41817	0.749190807343	0.74328	T	0.132755	0.46304	T	-0.293716	0.09266	T	-0.423011	0.30732	T	0.318807016647972	0.25773	T	0.962404	0.85901	D	0.13077682	0.30504	0.16933554	0.38960	0.13077682	0.30504	0.16933554	0.38959	-4.452	0.30256	T	.	.	0.092	0.13597	B	.;.;.	.;.;.	4.450750	0.69188	25.3	0.99757251034106786	0.84772	0.98209	0.80557	D	AEFBI	0.910409	0.86830	D	0.484376556070484	0.66177	4.91658	0.571836625627048	0.72929	5.887907	0.999999999717443	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.67	5.67	0.87673	8.190000	0.89672	10.000000	0.83036	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	19.766	0.96341	904	0.23766	I/LWEQ domain|I/LWEQ domain|I/LWEQ domain|I/LWEQ domain;I/LWEQ domain|I/LWEQ domain|I/LWEQ domain|I/LWEQ domain;I/LWEQ domain|I/LWEQ domain|I/LWEQ domain|I/LWEQ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1814.98	38	chr15	62838946	.	G	A	1814.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.830e-01;DP=961;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=0.433;SOR=0.680	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,120,1800	20	0	1	0
chr15	63129568	63129568	T	C	exonic	LACTB	.	nonsynonymous SNV	LACTB:NM_032857:exon5:c.T1036C:p.Y346H	.	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.335	B	0.178	B	0.000	D	1.000	D	1.69	L	0.81	T	-0.926	T	0.145	T	0.908	2.441	14.12	5.8	2.206	4.414	15.332	0.262	0.0056478220909	.	.	.	.	.	.	.	.	.	.	.	.	.	rs930221220	2.053e-06	2.052e-06	1.362e-06	2.751e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	1.874e-05	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	0.24758	T	0.252	0.25591	T	0.335	0.33330	B	0.178	0.35748	B	0.000401	0.44736	D	0.197851	0.98182	0.39820	D	2.035	0.55589	M	0.81	0.48460	T	-1.93	0.44852	N	0.453	0.49055	-0.9258	0.44744	T	0.145	0.46768	T	10	0.33928254	0.51018	T	0.005648	0.14621	T	0.262	0.57482	0.791	0.91291	0.575848135552	0.57253	0.8217371812945394	0.82130	0.5337776408	0.50804	0.743882775307	0.73544	T	0.136049	0.46820	T	0.217612	0.75549	D	0.0748074	0.75232	D	0.414592891931534	0.29489	T	0.739226	0.45944	T	0.1716696	0.37814	0.20823032	0.45116	0.1716696	0.37814	0.20823032	0.45115	-8.498	0.64416	D	.	.	0.214	0.54302	B	.;.	.;.	3.369632	0.46563	22.3	0.99156110466419467	0.53959	0.89852	0.50590	D	AEFGBI	0.413095	0.48291	N	0.210658396650508	0.51714	3.350597	0.346637196194924	0.58304	4.000317	0.999999965114975	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	4.282000	0.58764	7.842000	0.70572	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.332	0.73929	759	0.50631	Beta-lactamase-related;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	938.98	35	chr15	63129568	.	T	C	938.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.780e-01;DP=779;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=-8.900e-02;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1053	20	0	1	0
chr15	63342058	63342058	C	T	exonic	CA12	.	nonsynonymous SNV	CA12:NM_001293642:exon4:c.G289A:p.A97T	Hyperchlorhidrosis, isolated, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.921	P	0.14	B	0.580	N	1.000	N	1.53	L	-0.24	T	-0.900	T	0.153	T	0.146	0.914	8.719	3.2	0.409	-0.069	3.261	0.082	0.0273272729635	.	0.000199681	9.223e-05	0	0	0	0	1.519e-05	0	0.0006	8.41e-05	13	154602	rs569522889	3.968e-05	3.967e-05	3.676e-05	4.263e-05	0.0005	3.113e-05	2.847e-05	0.0004	0.0003	0	2.236e-05	0	0	0	0.0003	1.259e-05	0	0.0005	1.971e-05	1.969e-05	2.57e-05	1.344e-05	0.0004	5.24e-06	2.45e-06	7.312e-05	3.037e-05	0	0	0	0	0	0	0.0034	0	0	0.0004	0.033	0.46129	D	0.104	0.38160	T	0.864	0.51088	P	0.14	0.33554	B	0.579883	0.11154	N	0.827136	1	0.08975	N	0.95	0.23787	L	-0.24	0.66834	T	-0.9	0.24244	N	0.172	0.19728	-0.8996	0.48034	T	0.153	0.48257	T	10	0.03514391	0.01750	T	0.027327	0.50151	D	0.082	0.23913	0.505	0.59924	0.705763072862	0.70320	0.46199009956265125	0.46117	0.174233571796	0.19618	0.243249058723	0.03090	T	0.105757	0.41651	T	-0.42876	0.01508	T	-0.492866	0.23092	T	0.0318081338720186	0.02276	T	0.877212	0.59013	D	0.16607906	0.36921	0.09705972	0.23088	0.16607906	0.36920	0.09705972	0.23088	-4.765	0.34180	T	0.13869995536247845	0.15369	0.088	0.11510	B	.;.;.	.;.;.	1.696526	0.21614	15.27	0.96946022092459938	0.31719	0.08388	0.14324	N	AEFDGBHCI	0.067836	0.13355	N	-0.493001278243745	0.22309	1.190358	-0.602053681683109	0.19440	1.043019	0.999999999999956	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.3	3.2	0.35826	-0.168000	0.09914	0.115000	0.14837	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2431:0.4697:0.0:0.2872	3.261	0.06444	699	0.57969	Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;.;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	784.98	74	chr15	63342058	.	C	T	784.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.480e-01;DP=755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=1.83;SOR=0.614	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1115	20	0	1	0
chr15	63345541	63345541	C	T	exonic	CA12	.	stopgain	CA12:NM_001293642:exon3:c.G185A:p.W62X	Hyperchlorhidrosis, isolated, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	5.980	37	5.19	2.441	7.717	17.352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.905	0.90590	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	9.580595	0.99096	42	0.99666080476407826	0.78266	0.94477	0.61292	D	AEFDGBCI	0.282155	0.39556	N	0.875250379985906	0.90496	10.43014	0.744015538159865	0.85711	8.662272	1.0	0.98316	0.675385	0.55134	0	0.59043	0.45803	0	0.693117	0.63056	0	0.655142	0.61905	0	.	.	5.19	5.19	0.71428	7.897000	0.85944	7.700000	0.66237	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.931000	0.46843	0.0:1.0:0.0:0.0	17.352	0.87216	674	0.60593	Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;.;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1181.98	33	chr15	63345541	.	C	T	1181.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.270e-01;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.94;ReadPosRankSum=0.068;SOR=0.638	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1289	20	0	1	0
chr15	63597516	63597516	G	A	exonic	FBXL22	.	nonsynonymous SNV	FBXL22:NM_001367807:exon1:c.G124A:p.V42M	.	.	435	1084	3	0	0	3	0.00138185	.	.	3442491	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	1.04	L	-0.02	T	-0.328	T	0.348	T	0.866	3.983	20.4	5.39	2.526	9.731	19.189	0.526	0.0772033709326	7.7e-05	.	3.301e-05	0	0	0	0	6.007e-05	0	0	2.59e-05	4	154602	rs367605652	2.052e-05	2.052e-05	1.634e-05	2.475e-05	0.0005	1.456e-05	1.264e-05	0.0001	7.541e-05	2.987e-05	0.0001	0	5.038e-05	0	0.0005	1.619e-05	1.656e-05	0	1.315e-05	1.313e-05	2.57e-05	0	6.544e-05	2.18e-06	8.2e-07	.	.	0	0	6.544e-05	0	0	0	0	1.47e-05	0	0	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.04	0.26193	L	-0.02	0.62918	T	.	.	.	0.613	0.82559	-0.3281	0.74188	T	0.348	0.71249	T	10	0.56838185	0.65180	D	0.077203	0.72714	D	0.526	0.79947	.	.	0.602107291794	0.59893	0.5983892764624129	0.59769	0.745215368808	0.63480	0.589835584164	0.51470	T	0.164209	0.50958	T	0.108105	0.65154	D	0.14321	0.79751	D	0.624632000923157	0.37396	D	0.854215	0.54045	D	0.33035746	0.55501	0.3368268	0.59480	0.33035746	0.55501	0.3368268	0.59480	-9.151	0.68664	D	.	.	0.867	0.80705	P	.;.;.	.;.;.	4.792489	0.77791	26.8	0.99887189055905468	0.96204	0.96880	0.71442	D	AEFDBCIJ	0.937467	0.93530	D	0.650923674793274	0.76429	6.484809	0.636744391311684	0.77627	6.715922	1.0	0.98316	0.517182	0.21443	0	0.379588	0.06130	0	0.478664	0.07449	1	0.664235	0.64389	0	.	.	5.39	5.39	0.77615	9.864000	0.98442	7.388000	0.58495	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.0:0.0:1.0:0.0	19.189	0.93643	627	0.65350	F-box domain;F-box domain;F-box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	3462.68	34	chr15	63597516	.	G	A	3462.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.47;DP=921;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=0.262;SOR=0.712	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	3	0
chr15	63600700	63600700	C	G	exonic	FBXL22	.	nonsynonymous SNV	FBXL22:NM_001367807:exon2:c.C357G:p.C119W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21805093	0.38436	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.805919	0.45429	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.920	0.84176	P	.	.	4.808447	0.78192	26.9	0.64164387611019558	0.07419	0.65091	0.32622	D	ALL	.	.	.	.	.	.	.	.	.	0.999999999983611	0.74766	0.199473	0.04044	0	0.073863	0.01883	0	0.215285	0.04585	0	0.088244	0.02422	0	0.268702	0.33603	4.4	2.5	0.29355	1.624000	0.36629	2.035000	0.30272	0.463000	0.21641	1.000000	0.71638	1.000000	0.68203	0.882000	0.42233	0.0:0.7034:0.0:0.2966	7.032	0.24152	634	0.64659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04167	32.22	3	chr15	63600700	.	C	G	32.22	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-9.670e-01;DP=63;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1269;MLEAC=2;MLEAF=0.083;MQ=60.00;MQRankSum=0.00;QD=10.74;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,34	11	0	1	9
chr15	63600770	63600770	C	A	exonic	FBXL22	.	nonsynonymous SNV	FBXL22:NM_001367807:exon2:c.C427A:p.R143S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs985811067	3.707e-06	2.736e-06	1.755e-06	5.889e-06	4.349e-06	8.7e-07	5.9e-07	1.02e-06	6.9e-07	0	0	0	0	0	0	4.349e-06	0	0	6.571e-06	6.566e-06	1.285e-05	0	6.54e-05	0	0	.	.	0	0	6.54e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26034704	0.43482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.618638	0.23716	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.31023	B	.	.	2.713463	0.35474	19.91	0.90119436043660439	0.19400	0.32725	0.24655	N	ALL	.	.	.	.	.	.	.	.	.	0.999999999996021	0.74766	0.199473	0.04044	0	0.033551	0.00054	0	0.215285	0.04585	0	0.054758	0.00131	0	0.265778	0.33488	4.19	-0.195	0.12586	2.140000	0.41783	0.766000	0.21355	0.463000	0.21641	1.000000	0.71638	0.035000	0.21413	0.937000	0.47636	0.5223:0.3365:0.0:0.1413	4.952	0.13368	634	0.64659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	34.19	2	chr15	63600770	.	C	A	34.19	.	AC=2;AF=0.063;AN=32;DP=67;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2156;MLEAC=2;MLEAF=0.063;MQ=60.00;QD=17.09;SOR=0.693	GT:AD:DP:GQ:PL	0/0:4,0:4:12:0,12,118	15	1	0	5
chr15	63663037	63663037	C	T	exonic	HERC1	.	nonsynonymous SNV	HERC1:NM_003922:exon44:c.G8848A:p.D2950N,	Macrocephaly, dysmorphic facies, and psychomotor retardation, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.2	B	0.119	B	0.000	D	1.000	D	1.5	L	1.75	T	-1.096	T	0.078	T	0.052	5.212	33	5.92	2.801	7.814	20.317	0.117	0.0042069741562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.295	0.20680	T	0.2	0.29645	B	0.119	0.32162	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.04	0.26193	L	1.75	0.26152	T	-0.79	0.21860	N	0.342	0.38335	-1.0957	0.04653	T	0.078	0.30982	T	10	0.15499854	0.29224	T	0.004207	0.10153	T	0.117	0.32689	0.224	0.14813	0.0934897674506	0.08844	0.8564759377475429	0.85610	1.06899569482	0.76745	0.836723029613	0.87594	D	0.116465	0.43584	T	-0.222763	0.17618	T	-0.55776	0.16587	T	0.882360637187958	0.53246	D	0.962254	0.85785	D	0.2077112	0.42985	0.1881002	0.42081	0.2077112	0.42984	0.1881002	0.42080	-4.35	0.28872	T	.	.	0.404	0.59788	A	.	.	4.529238	0.71081	25.6	0.99917986830066463	0.98518	0.98845	0.87614	D	AEFBI	0.852492	0.76940	D	0.326699993145109	0.57522	3.91989	0.495299746844576	0.67678	5.116288	0.999999999999982	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	7.902000	0.86082	7.728000	0.67649	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.317	0.98658	730	0.54327	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1720.98	34	chr15	63663037	.	C	T	1720.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.050e-01;DP=827;ExcessHet=0.0000;FS=0.689;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.99;ReadPosRankSum=-1.275e+00;SOR=0.769	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr15	63664532	63664532	C	T	exonic	HERC1	.	nonsynonymous SNV	HERC1:NM_003922:exon43:c.G8618A:p.R2873H,	Macrocephaly, dysmorphic facies, and psychomotor retardation, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2379316	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.999	D	0.987	D	0.000	D	1.000	D	1.245	L	1.31	T	-0.830	T	0.188	T	0.592	5.412	34	5.79	2.718	6.833	20.024	0.202	0.00663208622017	.	.	4.977e-05	0	0	0	0	0	0.0011	0.0003	4.53e-05	7	154602	rs765684383	3.422e-05	3.489e-05	2.179e-05	4.678e-05	0.0004	2.633e-05	2.376e-05	0.0003	0.0002	0	0	0	0	0	0	1.17e-05	6.628e-05	0.0004	1.972e-05	1.97e-05	1.285e-05	2.691e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.009	0.57480	D	0.033	0.53072	D	0.999	0.77913	D	0.987	0.77487	D	0.000001	0.84330	D	0.000000	1	0.81001	D	1.04	0.26193	L	1.31	0.35405	T	-1.58	0.38151	N	0.52	0.55019	-0.8297	0.53320	T	0.188	0.53812	T	10	0.36691743	0.53174	T	0.006632	0.17501	T	0.202	0.48754	0.298	0.26362	0.082315109003	0.07666	0.29761447399619695	0.29674	1.21465745961	0.80914	0.645125389099	0.59293	T	0.208297	0.56819	T	-0.231248	0.16483	T	-0.273756	0.47440	T	0.291430998382597	0.24649	T	0.959604	0.84807	D	0.12137458	0.28542	0.1441639	0.34235	0.12137458	0.28541	0.1441639	0.34234	-4.853	0.35202	T	.	.	0.309	0.53679	B	.	.	4.955970	0.81901	27.7	0.99938026481180797	0.99698	0.99080	0.90931	D	AEFBIJ	0.723183	0.67288	D	0.737517997346614	0.82090	7.677476	0.758891244641027	0.86819	9.013	0.999999999999907	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.79	5.79	0.91751	6.910000	0.75564	7.700000	0.66237	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:1.0:0.0:0.0	20.024	0.97513	729	0.54495	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1163.98	33	chr15	63664532	.	C	T	1163.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.168;DP=767;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.79;ReadPosRankSum=-1.011e+00;SOR=0.646	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1191	20	0	1	0
chr15	63713551	63713551	T	G	exonic	HERC1	.	nonsynonymous SNV	HERC1:NM_003922:exon23:c.A4265C:p.Q1422P,	Macrocephaly, dysmorphic facies, and psychomotor retardation, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.002	B	0.003	B	0.002	N	0.986	D	0.345	N	1.86	T	-1.054	T	0.034	T	0.938	2.626	14.74	5.53	2.100	4.462	7.618	0.252	0.0025531596803	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1163579459	7.526e-06	7.524e-06	1.361e-06	1.375e-05	0.0002	4.04e-06	2.95e-06	3.348e-05	1.981e-05	0	0	0	0.0001	0	0.0002	2.698e-06	3.313e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.435	0.13349	T	0.28	0.21678	T	0.0	0.02946	B	0.0	0.01387	B	0.001818	0.37945	N	0.192146	0.986181	0.40393	D	0.345	0.11182	N	1.86	0.24285	T	-0.45	0.25118	N	0.619	0.63459	-1.0536	0.13413	T	0.034	0.14552	T	10	0.15588063	0.29369	T	0.002553	0.05121	T	0.252	0.56159	0.095	0.01241	0.51375633675	0.51017	0.2530542570770654	0.25219	0.402610028339	0.41208	0.644677519798	0.59229	T	0.111164	0.42644	T	0.0601478	0.59632	T	0.0177499	0.71485	D	0.234804585576057	0.22178	T	0.80202	0.45053	T	0.077616856	0.17627	0.09700812	0.23072	0.077616856	0.17627	0.09700812	0.23071	-3.129	0.11632	T	.	.	0.075	0.11606	B	.;.	.;.	3.186622	0.43278	21.7	0.96924339898994194	0.31629	0.93995	0.59797	D	AEFGBCI	0.626380	0.60922	D	-0.140407651671513	0.35643	2.049982	0.0884623631046431	0.43966	2.687622	0.99999050462195	0.74766	0.732398	0.92422	0	0.696144	0.67643	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	4.604000	0.60818	7.946000	0.75701	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1393:0.0:0.1453:0.7154	7.618	0.27334	716	0.55970	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1020.98	34	chr15	63713551	.	T	G	1020.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.610e-01;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.96;ReadPosRankSum=1.05;SOR=0.761	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1404	20	0	1	0
chr15	63922826	63922826	C	G	exonic	DAPK2	.	nonsynonymous SNV	DAPK2:NM_001363730:exon10:c.G1376C:p.G459A,	.	.	423	1089	8	2	0	12	0.00547945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00279553	0.0014	0.0125	0	0	0	0.0025	0	0.0001	0.0003169	49	154602	rs111424786	0.0008	0.0008	0.0009	0.0008	0.0111	0.0008	0.0008	0.0089	0.0081	0.0093	0.0025	0.0009	2.798e-05	0	0.0111	0.0005	0.0019	0.0002	0.0032	0.0032	0.0034	0.0030	0.0090	0.0030	0.0029	0.0083	0.0080	0.0090	0	0.0027	0.0003	0	0	0.0034	0.0010	0.0009	0.0002	0.062	0.36912	T	0.205	0.27145	T	.	.	.	.	.	.	.	.	.	.	1	0.19853	N	.	.	.	-0.27	0.67367	T	-0.1	0.08495	N	0.063	0.03956	.	.	.	.	.	.	.	0.006806046	0.00155	T	.	.	.	.	.	.	.	0.635244795662	0.63225	0.05314374401321491	0.05256	.	.	.	.	.	.	.	.	-0.504281	0.00541	T	-0.489179	0.23477	T	.	.	.	0.466053	0.13673	T	.	.	.	.	.	.	.	.	-3.606	0.17944	T	.	.	0.078	0.06896	B	.;.	.;.	0.929393	0.13044	9.550	0.9302063764983689	0.22617	0.52527	0.29153	D	AEFDBI	0.138678	0.26004	N	.	.	.	.	.	.	0.999915613234714	0.45857	0.487112	0.14033	0	0.546412	0.12157	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.26	3.36	0.37579	1.014000	0.29553	1.004000	0.23282	0.599000	0.40250	0.999000	0.42656	0.605000	0.25739	0.016000	0.10718	0.0:0.5535:0.1907:0.2558	3.955	0.08880	117	0.95266	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1289.98	61	chr15	63922826	.	C	G	1289.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=1346;ExcessHet=0.0000;FS=3.784;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=-7.350e-01;SOR=1.089	GT:AD:DP:GQ:PL	0/0:76,0:76:99:0,120,1800	20	0	1	0
chr15	63923312	63923312	C	T	exonic	DAPK2	.	nonsynonymous SNV	DAPK2:NM_001363730:exon10:c.G890A:p.R297Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0031100870877	.	.	.	.	.	.	.	.	.	.	.	.	.	rs917136596	2.53e-05	2.394e-05	3.139e-05	1.904e-05	0.0004	1.837e-05	1.626e-05	6.171e-05	2.551e-05	0	0	0	0	0.0005	0.0004	1.205e-05	6.91e-05	0	1.971e-05	1.97e-05	1.285e-05	2.691e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0.0002	0.044	0.41096	D	0.205	0.27145	T	.	.	.	.	.	.	.	.	.	.	0.99998	0.18612	N	.	.	.	1.1	0.39050	T	-1.42	0.34992	N	0.039	0.01577	.	.	.	.	.	.	.	0.07122028	0.10468	T	0.00311	0.06756	T	.	.	.	.	0.648148160414	0.64522	0.14700382363788703	0.14622	.	.	.	.	.	.	.	.	-0.369255	0.03631	T	-0.768186	0.02828	T	.	.	.	0.381662	0.09243	T	.	.	.	.	.	.	.	.	-3.833	0.21298	T	.	.	0.062	0.01367	B	.;.	.;.	-0.275816	0.02725	0.360	0.94838881359185334	0.25627	0.03355	0.08444	N	AEFGBI	0.132994	0.25250	N	.	.	.	.	.	.	0.999909495814905	0.45458	0.487112	0.14033	0	0.446627	0.06534	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.01	0.892	0.18364	-0.331000	0.07958	-8.249000	0.01002	-0.182000	0.10109	0.023000	0.19925	0.000000	0.08366	0.133000	0.19684	0.0:0.4605:0.0:0.5395	8.572	0.32737	117	0.95266	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1245.98	39	chr15	63923312	.	C	T	1245.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.107;DP=930;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=1.06;SOR=0.727	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,108,1620	20	0	1	0
chr15	63929567	63929567	C	T	exonic	DAPK2	.	nonsynonymous SNV	DAPK2:NM_001363730:exon7:c.G643A:p.V215I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.995	D	0.953	D	0.000	D	1.000	D	1.575	L	0.88	T	-0.785	T	0.174	T	0.757	5.405	34	5.92	2.810	7.534	19.309	0.280	0.0286726368294	0.0002	0.00119808	0.0007	0.0002	8.652e-05	0.0094	0	5.998e-05	0	6.068e-05	0.0006404	99	154602	rs140850258	0.0003	0.0003	0.0003	0.0003	0.0073	0.0003	0.0003	0.0066	0.0064	0.0002	6.708e-05	0.0003	0.0073	0	0	8.453e-05	0.0003	6.956e-05	0.0005	0.0005	0.0004	0.0006	0.0093	0.0004	0.0004	0.0072	0.0064	0.0003	0	0	0.0012	0.0093	0	0	0.0001	0	0	0.0	0.91255	D	0.007	0.69154	D	0.995	0.67487	D	0.953	0.69275	D	0.000004	0.62929	D	0.000000	1	0.81001	D	1.1	0.28011	L	0.88	0.46028	T	-1.0	0.26422	N	0.83	0.82559	-0.7847	0.56036	T	0.174	0.51737	T	10	0.011918396	0.00258	T	0.028673	0.51317	D	0.280	0.59740	.	.	0.493695379898	0.49004	0.6007129595046482	0.60002	0.505623639084	0.48794	0.792087852955	0.80760	T	0.062097	0.31827	T	-0.242357	0.15051	T	-0.109229	0.62672	T	0.125211578961115	0.14932	T	0.959004	0.84537	D	0.50988054	0.67672	0.51154745	0.71774	0.50988054	0.67673	0.51154745	0.71774	-10.544	0.77100	D	.	.	0.224	0.48561	B	.;.;.;.	.;.;.;.	6.014732	0.94345	34	0.9988251627436312	0.95813	0.99661	0.98441	D	AEFBI	0.908136	0.86306	D	0.802635460594485	0.86270	8.831894	0.822772251899351	0.91329	10.83244	1.0	0.98316	0.549168	0.22868	0	0.588066	0.40923	0	0.49644	0.08281	0	0.616125	0.45549	0	.	.	5.92	5.92	0.95557	7.695000	0.83490	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.309	0.94167	113	0.95418	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1170.98	34	chr15	63929567	.	C	T	1170.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.24;DP=840;ExcessHet=0.0000;FS=1.420;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.08;ReadPosRankSum=-6.290e-01;SOR=0.842	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr15	63983656	63983656	C	T	exonic	DAPK2	.	nonsynonymous SNV	DAPK2:NM_001363730:exon3:c.G191A:p.R64H	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.976	D	0.545	P	0.000	D	1.000	D	1.12	L	-0.21	T	-0.479	T	0.270	T	0.573	4.080	21.0	5.31	2.499	7.773	18.049	0.388	0.0417173463983	.	.	3.313e-05	0	0	0.0001	0	1.508e-05	0	0.0001	2.59e-05	4	154602	rs767183532	4.789e-05	4.788e-05	5.037e-05	4.538e-05	8.115e-05	3.86e-05	3.54e-05	4.091e-05	3.741e-05	2.987e-05	4.472e-05	0	0	0	0	5.216e-05	3.311e-05	8.115e-05	3.285e-05	3.283e-05	1.284e-05	5.379e-05	7.238e-05	1.261e-05	7.98e-06	1.919e-05	1.032e-05	7.238e-05	0	6.541e-05	0	0	0	0	1.47e-05	0	0	0.045	0.72154	D	0.051	0.52060	T	0.933	0.52105	P	0.545	0.49043	P	0.000006	0.62929	D	0.000000	1	0.81001	D	1.34	0.33385	L	-0.21	0.66294	T	-3.9	0.80085	D	0.715	0.71765	-0.4794	0.69388	T	0.270	0.64151	T	10	0.47056982	0.59836	T	0.041717	0.60078	D	0.388	0.70440	.	.	0.696367886986	0.69375	0.5817436487231649	0.58103	0.635556648549	0.57368	0.618711352348	0.55546	T	0.087764	0.38012	T	-0.0885774	0.38311	T	-0.13931	0.60178	T	0.5997194647789	0.36389	D	0.992701	0.97746	D	0.436964	0.63206	0.31405827	0.57399	0.436964	0.63207	0.31405827	0.57399	-12.232	0.85963	D	.	.	0.65	0.71628	P	.;.;.;.;.	.;.;.;.;.	5.840778	0.93778	33	0.99923452670792523	0.98917	0.95205	0.63827	D	AEFDGBCI	0.951669	0.96644	D	0.435391483661642	0.63381	4.570582	0.453733640733893	0.64957	4.763338	1.0	0.98316	0.65861	0.49226	0	0.659037	0.61890	0	0.725225	0.93170	0	0.638833	0.57524	0	.	.	5.31	5.31	0.75063	7.905000	0.86479	7.637000	0.63009	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.676000	0.33425	0.0:1.0:0.0:0.0	18.049	0.89268	114	0.95383	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.;Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1575.98	41	chr15	63983656	.	C	T	1575.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.913;DP=842;ExcessHet=0.0000;FS=1.434;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=0.369;SOR=0.861	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1270	20	0	1	0
chr15	64136334	64136334	A	C	exonic	SNX1	.	nonsynonymous SNV	SNX1:NM_148955:exon11:c.A1175C:p.E392A	.	.	429	1091	2	0	0	2	0.000915751	.	.	3326366	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	3.165	M	0.56	T	0.016	D	0.433	T	0.842	5.289	33	6.02	2.311	9.207	15.726	0.595	0.0803818587348	.	0.000199681	4.944e-05	0	0	0	0	5.994e-05	0	0.0001	4.53e-05	7	154602	rs549703675	6.23e-05	6.293e-05	5.314e-05	7.155e-05	0.0002	5.165e-05	4.784e-05	5.398e-05	4.573e-05	0	0.0001	0	0	0	0.0002	6.211e-05	0.0001	0.0001	9.192e-05	9.185e-05	7.709e-05	0.0001	0.0003	5.524e-05	4.361e-05	0.0001	8.28e-05	2.406e-05	0	0.0003	0	0	0	0.0034	8.821e-05	0	0.0002	0.007	0.91255	D	0.007	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.045	0.86684	M	0.56	0.54540	T	-4.68	0.83489	D	0.747	0.74644	0.016	0.82582	D	0.433	0.77400	T	10	0.7654474	0.76667	D	0.080382	0.73448	D	0.595	0.83911	0.605	0.73706	0.630427430629	0.62740	0.6419598242188044	0.64130	0.809785215428	0.66680	0.69808280468	0.66867	T	0.510688	0.82695	D	0.099876	0.64279	D	0.142357	0.79697	D	0.839876115322113	0.49317	D	0.952005	0.81587	D	0.8182766	0.85104	0.7238438	0.83690	0.8182766	0.85105	0.7238438	0.83691	-10.224	0.75241	D	.	.	0.519	0.79818	A	.;.;.;.;.	.;.;.;.;.	4.652050	0.74163	26.1	0.99628714172728683	0.75898	0.99872	0.99911	D	AEFBI	0.943842	0.95020	D	0.980356878704855	0.95109	13.31688	0.939391963506412	0.97072	15.54812	0.999999999999791	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.02	6.02	0.97559	9.279000	0.94981	11.286000	0.91899	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.726	0.77519	322	0.86904	Sorting nexin Vps5-like, C-terminal;.;Sorting nexin Vps5-like, C-terminal;.;Sorting nexin Vps5-like, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1250.98	35	chr15	64136334	.	A	C	1250.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.294;DP=767;ExcessHet=0.0000;FS=0.873;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.07;ReadPosRankSum=-7.400e-02;SOR=0.859	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1288	20	0	1	0
chr15	64418675	64418675	G	C	exonic	TRIP4	.	nonsynonymous SNV	TRIP4:NM_001321924:exon9:c.G615C:p.W205C	Spinal muscular atrophy with congenital bone fractures 1, Autosomal recessive	.	428	1085	7	2	0	11	0.00504356	.	.	1233174	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.17	T	1.0	D	0.985	D	0.000	D	1.000	D	1.59	L	.	.	-0.501	T	0.308	T	0.963	4.076	21.0	5.55	2.766	9.225	19.875	0.534	0.00939519432086	0.0006	0.000599042	0.0007	0.0002	0.0010	0	0.0002	0.0010	0	0.0005	0.0007244	112	154602	rs113596176	0.0007	0.0007	0.0007	0.0008	0.0089	0.0007	0.0007	0.0070	0.0063	0.0009	0.0009	0	0	0.0004	0.0089	0.0007	0.0013	0.0004	0.0005	0.0005	0.0004	0.0007	0.0009	0.0004	0.0004	0.0006	0.0005	0.0002	0	0.0009	0	0	9.43e-05	0.0170	0.0007	0.0009	0.0002	0.013	0.53900	D	0.105	0.38016	T	1.0	0.90584	D	0.985	0.76457	D	0.000001	0.62929	D	0.104089	1	0.81001	D	2.31	0.66127	M	.	.	.	-4.19	0.75615	D	0.89	0.88909	-0.5011	0.68610	T	0.308	0.67849	T	9	0.27495483	0.45051	T	0.009395	0.24623	T	0.534	0.80426	0.599	0.72984	0.468917363747	0.46519	0.8666267600449299	0.86627	0.496920850416	0.48186	0.647863566875	0.59683	T	0.241999	0.61064	T	0.154744	0.69712	D	0.393155	0.91888	D	0.0723479275712248	0.08977	T	0.969603	0.89085	D	0.3720213	0.58734	0.40773204	0.65110	0.3720213	0.58734	0.40773204	0.65110	-7.41	0.56975	T	0.2500082986602609	0.33841	0.401	0.59644	A	.	.	4.800037	0.77985	26.8	0.98771867930061519	0.45986	0.99566	0.97511	D	AEFGBI	0.909735	0.86674	D	0.810524841954283	0.86760	8.990074	0.82543732779469	0.91502	10.92018	0.999999999986292	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	9.321000	0.95528	8.655000	0.77949	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.875	0.96865	294	0.88270	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1350.98	40	chr15	64418675	.	G	C	1350.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.972;DP=842;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.22;ReadPosRankSum=-7.850e-01;SOR=0.663	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	20	0	1	0
chr15	64500137	64500137	C	T	exonic	ZNF609	.	nonsynonymous SNV	ZNF609:NM_015042:exon2:c.C718T:p.R240C,	.	.	.	.	.	.	.	.	.	.	.	2354012	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.987	D	0.000	D	1.000	D	2.095	M	0.52	T	-0.426	T	0.350	T	0.588	3.581	18.24	5.66	2.830	4.536	20.099	0.191	0.0279842591611	7.7e-05	.	6.812e-05	0	0	0	0	1.544e-05	0	0.0004	5.17e-05	8	154602	rs374998036	4.516e-05	4.515e-05	2.178e-05	6.877e-05	0.0006	3.642e-05	3.322e-05	0.0005	0.0004	0	0	0	0	1.883e-05	0.0003	8.094e-06	3.311e-05	0.0006	1.973e-05	1.97e-05	1.286e-05	2.693e-05	4.411e-05	5.25e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.987	0.77487	D	0.000004	0.62929	D	0.061375	1	0.81001	D	2.39	0.68882	M	0.52	0.55266	T	-3.62	0.69593	D	0.335	0.37613	-0.4265	0.71180	T	0.350	0.71391	T	10	0.20631972	0.36889	T	0.027984	0.50729	D	0.191	0.46948	.	.	0.2338531098	0.23012	0.6776902328635106	0.67708	1.09109443425	0.77432	0.773609995842	0.77965	T	0.28497	0.65776	T	-0.214493	0.18750	T	-0.188397	0.55740	T	0.555574982508706	0.34687	D	0.920608	0.74231	D	0.26935256	0.50008	0.2753401	0.53469	0.26935256	0.50007	0.2753401	0.53468	-6.449	0.49891	T	.	.	0.297	0.52760	B	.;.	.;.	5.359957	0.89889	31	0.99932904429344771	0.99488	0.98276	0.81177	D	AEFBI	0.720608	0.67111	D	0.764741716977332	0.83860	8.129726	0.752189619182908	0.86320	8.851655	0.999999986121376	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	4.513000	0.60194	7.672000	0.64834	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	20.099	0.97859	236	0.90801	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1589.98	36	chr15	64500137	.	C	T	1589.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=817;ExcessHet=0.0000;FS=5.895;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=-4.830e-01;SOR=1.288	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr15	64674848	64674848	C	G	exonic	ZNF609	.	nonsynonymous SNV	ZNF609:NM_015042:exon5:c.C1994G:p.P665R,	.	.	426	1084	12	0	0	12	0.00550459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.527	P	0.354	B	0.000	D	1.000	D	1.65	L	0.3	T	-0.679	T	0.235	T	0.577	2.359	13.85	5.79	2.735	7.818	20.035	0.242	0.0275025039789	7.7e-05	0.000998403	0.0014	0	0.0003	0.0001	0	0.0001	0.0033	0.0093	0.0011513	178	154602	rs370988343	0.0006	0.0006	0.0003	0.0009	0.0086	0.0006	0.0006	0.0081	0.0079	0	0.0002	0	0	0	0.0012	8.813e-05	0.0008	0.0086	0.0003	0.0003	0.0002	0.0005	0.0068	0.0002	0.0002	0.0050	0.0044	2.407e-05	0	0	0	0.0002	0	0	0.0001	0.0005	0.0068	0.001	0.78490	D	0.002	0.79402	D	0.527	0.37646	P	0.354	0.42942	B	0.000008	0.62929	D	0.150243	1	0.81001	D	2.085	0.57729	M	0.3	0.58755	T	-3.98	0.73788	D	0.536	0.56403	-0.6788	0.61428	T	0.235	0.60160	T	10	0.008863002	0.00201	T	0.027503	0.50302	D	0.242	0.54781	.	.	0.123314135267	0.11883	0.609418126146146	0.60873	0.545019556791	0.51540	0.66153126955	0.61629	T	0.31405	0.68576	T	-0.271287	0.11613	T	-0.156347	0.58678	T	0.113722677235336	0.13805	T	0.89791	0.64303	D	0.3394231	0.56234	0.3945405	0.64145	0.3394231	0.56234	0.3945405	0.64145	-8.445	0.64064	D	.	.	0.461	0.62747	A	.	.	3.658746	0.51965	23.2	0.98048408241377005	0.37851	0.99560	0.97447	D	AEFDBI	0.835235	0.75317	D	0.422563362365316	0.62663	4.486173	0.511649668995853	0.68774	5.266533	0.999999999999963	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.79	5.79	0.91751	7.905000	0.86479	6.006000	0.52567	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.781000	0.36947	0.0:1.0:0.0:0.0	20.035	0.97554	301	0.87912	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2897.98	34	chr15	64674848	.	C	G	2897.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.327e+00;DP=921;ExcessHet=0.0000;FS=9.405;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.07;ReadPosRankSum=0.565;SOR=0.334	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1223	20	0	1	0
chr15	64819930	64819930	C	T	exonic	PIF1	.	nonsynonymous SNV	PIF1:NM_001286496:exon8:c.G1250A:p.R417Q	.	.	418	1101	3	0	0	3	0.00136054	.	.	3372399	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.62	T	0.929	P	0.352	B	0.000	D	1.000	D	1.205	L	-1.0	T	-0.662	T	0.271	T	0.777	2.438	14.11	5.49	2.582	3.905	16.861	0.350	0.102994524641	0.0002	0.000599042	7.426e-05	0.0002	8.64e-05	0	0	3.003e-05	0	0.0002	7.76e-05	12	154602	rs369245790	4.857e-05	4.925e-05	4.22e-05	5.5e-05	0.0003	3.926e-05	3.605e-05	0.0002	0.0002	0.0001	4.472e-05	0	7.557e-05	0	0.0002	2.518e-05	6.623e-05	0.0003	8.534e-05	8.53e-05	0.0001	6.712e-05	0.0006	4.953e-05	3.959e-05	0.0002	8.996e-05	9.62e-05	0	6.533e-05	0	0.0002	0	0	4.409e-05	0.0005	0.0006	0.323	0.13436	T	0.531	0.11407	T	0.929	0.51690	P	0.352	0.42883	B	0.000001	0.84330	D	0.053153	0.99997	0.53665	D	1.275	0.32135	L	-1.0	0.76037	T	-1.31	0.32791	N	0.541	0.57092	-0.6623	0.62175	T	0.271	0.64214	T	10	0.14539826	0.27580	T	0.102995	0.77679	D	0.350	0.67142	.	.	0.528461186488	0.52492	0.5293525468275075	0.52859	0.414400824624	0.42123	0.415295541286	0.27188	T	0.053061	0.29339	T	-0.0476133	0.44809	T	-0.00997733	0.69686	D	0.0760783180594444	0.09479	T	0.831417	0.49863	T	0.35527197	0.57474	0.23286264	0.48460	0.35527197	0.57475	0.23286264	0.48459	-6.746	0.52915	T	.	.	0.073	0.04517	B	.;.;.	.;.;.	3.270406	0.44761	22.0	0.9902767921879575	0.50721	0.96423	0.69066	D	AEFDGBI	0.618405	0.60422	D	0.126983658263072	0.47723	2.994154	0.174259787677857	0.48441	3.059974	0.999999999991757	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.49	5.49	0.81022	3.973000	0.56552	1.020000	0.23398	0.599000	0.40250	0.999000	0.42656	0.999000	0.35428	0.230000	0.22734	0.0:1.0:0.0:0.0	16.861	0.85883	166	0.93555	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1640.98	39	chr15	64819930	.	C	T	1640.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.426;DP=833;ExcessHet=0.0000;FS=0.674;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=0.370;SOR=0.608	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr15	64854950	64854950	G	C	exonic	PLEKHO2	.	nonsynonymous SNV	PLEKHO2:NM_001195059:exon2:c.G42C:p.E14D	.	.	432	1089	1	0	0	1	0.000458926	.	.	2322359	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.82	T	0.996	D	0.986	D	0.000	D	0.966	D	-0.05	N	-0.84	T	-0.727	T	0.258	T	0.593	2.458	14.18	1.36	0.491	0.512	7.867	0.352	0.0319791490594	0.0002	0.000199681	0.0003	0	0.0004	0	0	0.0004	0.0013	0.0003	0.0002135	33	154602	rs199594189	0.0002	0.0002	0.0002	0.0002	0.0026	0.0002	0.0002	0.0016	0.0013	8.964e-05	0.0002	0.0025	0	0	0.0026	0.0002	0.0005	0.0001	0.0001	0.0001	0.0001	0.0001	0.0002	9.14e-05	7.697e-05	0.0001	8.876e-05	0	0	0	0.0023	0	0	0	0.0002	0	0	0.242	0.17584	T	0.036	0.52060	D	0.996	0.68779	D	0.986	0.76916	D	0.000037	0.55875	D	0.120835	0.965618	0.38479	D	0.145	0.08828	N	-0.84	0.74265	T	0.74	0.06369	N	0.42	0.46086	-0.7267	0.59129	T	0.258	0.62811	T	10	0.041442096	0.02799	T	0.031979	0.53925	D	0.352	0.67326	0.373	0.38503	0.315609569513	0.31162	0.13294673724670694	0.13218	0.451173225812	0.44869	0.702414810658	0.67493	T	0.098242	0.40187	T	-0.201639	0.20570	T	-0.229858	0.51786	T	0.0870435512372045	0.10863	T	0.813219	0.46599	T	0.041133266	0.06001	0.055664565	0.09807	0.041133266	0.06000	0.055664565	0.09807	-3.78	0.40891	T	.	.	0.388	0.58884	A	.;.;.	.;.;.	3.507012	0.49089	22.7	0.99433254939750815	0.64374	0.69754	0.34314	D	AEFGBI	0.194723	0.32179	N	-0.0623559530038316	0.39052	2.296862	-0.0401646825330017	0.37920	2.226788	0.999885000626983	0.44867	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.04	1.36	0.21139	0.739000	0.25841	2.031000	0.30254	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.3561:0.0:0.6439:0.0	7.867	0.28706	195	0.92448	.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1151.98	33	chr15	64854950	.	G	C	1151.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.840e-01;DP=810;ExcessHet=0.0000;FS=7.236;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.11;ReadPosRankSum=0.395;SOR=1.023	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1446	20	0	1	0
chr15	64930831	64930831	A	G	exonic	ANKDD1A	.	nonsynonymous SNV	ANKDD1A:NM_182703:exon7:c.A580G:p.T194A,	.	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.996	D	0.000	D	1.000	D	2.895	M	1.73	T	0.169	D	0.539	D	0.869	2.828	15.42	4.12	1.748	6.070	9.449	0.426	0.17223334054	.	0.00119808	0.0005	0	0	0.0060	0.0006	1.614e-05	0.0013	0.0001	0.0004075	63	154602	rs183862467	0.0002	0.0002	0.0002	0.0002	0.0031	0.0001	0.0001	0.0026	0.0025	2.987e-05	0	0	0.0031	0.0002	0	3.687e-05	0.0005	0.0002	0.0003	0.0003	0.0002	0.0004	0.0068	0.0002	0.0002	0.0050	0.0044	2.406e-05	0	6.532e-05	0	0.0068	0.0004	0	2.94e-05	0.0005	0.0002	0.771	0.65419	T	0.141	0.70582	T	0.996	0.68779	D	0.91	0.64641	D	0.000013	0.62929	D	0.000000	0.998913	0.81001	D	2.57	0.75187	M	-0.87	0.78860	T	-0.71	0.79571	N	0.887	0.89577	0.169	0.85389	D	0.539	0.82984	D	10	0.011678755	0.00254	T	0.172233	0.84928	D	0.426	0.73372	.	.	0.711441519182	0.70891	0.5596845997943214	0.55895	.	.	0.561142921448	0.47429	T	0.130972	0.46018	T	0.0104674	0.53088	T	0.24404	0.85338	D	0.086265921508259	0.10768	T	0.743826	0.59013	T	0.20702761	0.42897	0.20947589	0.45293	0.20702761	0.42897	0.20947589	0.45292	-4.824	0.34870	T	.	.	0.295	0.66944	B	.;.;.;.;.;.	.;.;.;.;.;.	4.060466	0.60248	24.2	0.99604867734668034	0.74456	0.80203	0.39903	D	AEFDGBHCI	0.519458	0.54473	D	0.585520488923875	0.72271	5.779411	0.467919027504907	0.65877	4.879477	0.999999999994758	0.74766	0.713056	0.82018	0	0.587265	0.34161	0	0.608524	0.38960	0	0.695668	0.68540	0	.	.	4.12	4.12	0.47504	5.890000	0.69515	3.776000	0.39772	0.751000	0.87719	1.000000	0.71638	0.999000	0.35428	0.261000	0.23543	1.0:0.0:0.0:0.0	9.449	0.37881	225	0.91282	.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	720.98	36	chr15	64930831	.	A	G	720.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.019;DP=758;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.15;ReadPosRankSum=1.43;SOR=0.784	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1361	20	0	1	0
chr15	65021558	65021558	C	T	exonic	MTFMT	.	nonsynonymous SNV	MTFMT:NM_139242:exon4:c.G601A:p.A201T,	Combined oxidative phosphorylation deficiency 15, Autosomal recessive	.	0	1469	53	0	0	53	0.0177198	.	.	373617	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.22	T	0.032	B	0.028	B	0.011	N	1.000	N	1.035	L	-1.17	T	-0.956	T	0.217	T	0.119	-0.079	3.615	-3.78	-1.138	0.804	6.067	0.155	.	0.0022	0.0289537	0.0194	0.0010	0.0035	0.0001	0.0006	0.0036	0.0167	0.1229	0.0168562	2606	154602	rs111388106	0.0091	0.0091	0.0058	0.0124	0.1177	0.0090	0.0089	0.1158	0.1150	0.0013	0.0020	0.0247	0.0003	0.0007	0.0219	0.0013	0.0118	0.1177	0.0058	0.0058	0.0038	0.0080	0.1226	0.0055	0.0054	0.1144	0.1111	0.0014	0	0.0013	0.0213	0.0010	0.0005	0.0170	0.0017	0.0038	0.1226	0.421	0.09806	T	0.496	0.11335	T	0.032	0.20242	B	0.028	0.21332	B	0.010992	0.29704	N	0.368723	1	0.08975	N	1.22	0.30592	L	-1.17	0.78199	T	-1.21	0.30762	N	0.064	0.03613	-0.9557	0.39970	T	0.217	0.57889	T	10	0.0017339289	0.00022	T	.	.	.	0.155	0.40530	.	.	.	.	0.5269698549025971	0.52620	0.130447682833	0.14714	0.283238589764	0.07948	T	0.43229	0.78011	T	-0.538316	0.00343	T	-0.449314	0.27773	T	0.000675677817288847	0.00006	T	.	.	.	0.044039093	0.06971	0.0742552	0.16224	0.044039093	0.06970	0.0742552	0.16224	-5.088	0.37780	T	0.2845219580732088	0.38032	0.125	0.26357	B	.	.	1.017392	0.13970	10.53	0.41439759573103024	0.02990	0.32598	0.24624	N	AEFBI	0.061479	0.11756	N	-1.03140795617771	0.07958	0.3714525	-1.09977024481206	0.07706	0.3758609	0.91872541865674	0.26581	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.61	-3.78	0.04049	0.952000	0.28747	-0.156000	0.11370	-0.182000	0.10109	0.341000	0.25683	0.000000	0.08366	0.876000	0.41813	0.4844:0.3263:0.0:0.1893	6.067	0.19091	293	0.88320	Formyl transferase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	639.98	34	chr15	65021558	.	C	T	639.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.700e-01;DP=775;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.36;ReadPosRankSum=1.72;SOR=0.755	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr15	65076904	65076904	G	A	exonic	KBTBD13	.	nonsynonymous SNV	KBTBD13:NM_001101362:exon1:c.G89A:p.G30D,	Nemaline myopathy 6, autosomal dominant, Autosomal dominant	.	4	1466	49	3	0	55	0.0184131	.	.	255321	Nemaline_myopathy_6|not_provided|not_specified	MONDO:MONDO:0012237,MedGen:C1836472,OMIM:609273,Orphanet:171439|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.007	B	0.009	B	.	.	0.539	N	-0.77	N	-0.46	T	-0.962	T	0.054	T	0.27	-0.961	0.322	2.65	1.142	2.317	6.114	0.070	.	0.0029	0.00339457	0.0163	0.0012	0.0229	0	0.0056	0.0232	0.0217	0.0122	0.004269	660	154602	rs138484272	0.0045	0.0045	0.0043	0.0048	0.0209	0.0044	0.0044	0.0175	0.0162	0.0010	0.0044	0.0245	7.96e-05	0.0006	0.0209	0.0039	0.0058	0.0096	0.0033	0.0033	0.0034	0.0032	0.0085	0.0031	0.0030	0.0064	0.0057	0.0007	0	0.0027	0.0210	0.0004	0.0006	0.0102	0.0044	0.0052	0.0085	1.0	0.00964	T	1.0	0.01155	T	0.007	0.14184	B	0.009	0.14300	B	.	.	.	.	0.538675	0.31430	N	-0.695	0.01866	N	-0.46	0.70014	T	3.17	0.00119	N	0.179	0.19325	-0.9619	0.38819	T	0.054	0.23034	T	9	0.0052545667	0.00115	T	.	.	.	0.070	0.20419	.	.	0.278968121808	0.27521	0.47289678639966026	0.47208	0.695823666407	0.60829	0.672580480576	0.63206	T	0.108013	0.42070	T	-0.437458	0.01338	T	-0.393193	0.34177	T	0.0051036057448719	0.00055	T	0.643236	0.25495	T	0.09718357	0.22903	0.14858682	0.35117	0.09718357	0.22902	0.14858682	0.35116	-0.14	0.00402	T	0.06970129347696491	0.02634	0.131	0.28203	B	.	.	1.861609	0.23646	16.10	0.89021080283419685	0.18446	0.67065	0.33298	D	AEFDBI	0.236386	0.35884	N	-0.67063207486362	0.16862	0.8628127	-0.451751334981901	0.23499	1.281822	0.89356670736271	0.25909	0.582742	0.33608	0	0.588066	0.40923	0	0.578056	0.29568	0	0.620976	0.48614	0	.	.	4.58	2.65	0.30588	2.348000	0.43701	3.884000	0.40256	0.676000	0.76740	0.986000	0.36153	1.000000	0.68203	0.635000	0.32288	0.4083:0.0:0.5917:0.0	6.114	0.19340	315	0.87208	BTB/POZ domain|BTB/POZ domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	1323.11	35	chr15	65076904	.	G	A	1323.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-6.020e-01;DP=790;ExcessHet=0.1072;FS=0.789;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.93;ReadPosRankSum=-1.930e-01;SOR=0.793	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1309	19	0	2	0
chr15	65077762	65077762	A	C	exonic	KBTBD13	.	nonsynonymous SNV	KBTBD13:NM_001101362:exon1:c.A947C:p.D316A,	Nemaline myopathy 6, autosomal dominant, Autosomal dominant	.	0	1517	5	0	0	5	0.00164528	.	.	643471	Nemaline_myopathy_6|Inborn_genetic_diseases	MONDO:MONDO:0012237,MedGen:C1836472,OMIM:609273,Orphanet:171439|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.82	T	0.009	B	0.007	B	.	.	0.999	D	1.445	L	-0.13	T	-0.898	T	0.172	T	0.486	2.176	13.23	5.15	1.937	2.308	14.657	0.240	0.0832456286377	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1021462149	2.245e-05	2.257e-05	1.671e-05	2.827e-05	0.0007	1.624e-05	1.39e-05	0.0002	0.0001	0.0002	0.0001	0	0	0	0.0007	1.091e-05	5.065e-05	1.201e-05	5.264e-05	5.256e-05	5.145e-05	5.388e-05	0.0002	2.56e-05	1.832e-05	5.287e-05	2.835e-05	2.416e-05	0	0.0002	0	0	0	0	5.886e-05	0	0	0.13	0.26740	T	0.116	0.36497	T	0.009	0.15093	B	0.007	0.12992	B	.	.	.	.	0.998746	0.45372	D	1.79	0.46772	L	-0.13	0.64818	T	-3.09	0.63438	D	0.342	0.38335	-0.8979	0.48205	T	0.172	0.51452	T	9	0.20484588	0.36691	T	0.083246	0.74075	D	0.240	0.54500	0.552	0.66856	0.486920840936	0.48326	0.7054532993511943	0.70487	0.688145502748	0.60419	0.79730707407	0.81553	T	0.106374	0.41767	T	-0.195131	0.21509	T	-0.26976	0.47845	T	0.0451927643841116	0.04637	T	0.435056	0.11905	T	0.20360999	0.42443	0.30230767	0.56263	0.20360999	0.42443	0.30230767	0.56262	-3.008	0.10267	T	0.4514104127042629	0.53514	0.243	0.47773	B	.	.	3.304751	0.45380	22.1	0.96789735759385143	0.31105	0.88086	0.47862	D	AEFDBCI	0.506756	0.53734	D	-0.3367308330111	0.27763	1.525826	-0.179421584374864	0.32294	1.83587	0.999999890058061	0.74766	0.59774	0.34471	0	0.547309	0.14657	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	5.15	5.15	0.70287	2.348000	0.43701	7.676000	0.65050	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.821000	0.38685	1.0:0.0:0.0:0.0	14.657	0.68447	315	0.87208	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2119.11	82	chr15	65077762	.	A	C	2119.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.17;DP=2038;ExcessHet=0.1072;FS=40.643;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.34;ReadPosRankSum=1.63;SOR=2.825	GT:AD:DP:GQ:PL	0/0:70,0:70:99:0,120,1800	19	0	2	0
chr15	65197905	65197905	C	T	exonic	CILP	.	nonsynonymous SNV	CILP:NM_003613:exon9:c.G2381A:p.G794D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.36	M	2.61	T	-0.987	T	0.115	T	0.965	3.961	20.3	5.2	2.584	7.772	18.116	0.748	0.0351269369024	.	.	8.279e-06	0	8.649e-05	0	0	0	0	0	2.59e-05	4	154602	rs760197046	2.736e-06	2.736e-06	1.361e-06	4.125e-06	8.945e-05	6.4e-07	4.3e-07	2.985e-05	1.804e-05	0	8.945e-05	0	0	0	0	0	0	0	1.315e-05	1.313e-05	0	2.692e-05	0.0001	2.19e-06	8.2e-07	2.263e-05	9.08e-06	0	0	0.0001	0	0	0	0	0	0	0	0.006	0.61437	D	0.014	0.62352	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.585	0.75554	M	2.61	0.13095	T	-5.17	0.83489	D	0.975	0.98563	-0.9874	0.33249	T	0.115	0.40831	T	10	0.9087615	0.90241	D	0.035127	0.56139	D	0.748	0.91328	0.774	0.90002	0.666185256998	0.66337	0.9275213517823698	0.92730	0.630584744135	0.57042	0.884446024895	0.94551	D	0.522879	0.83347	D	0.0774619	0.61743	D	0.0704637	0.74941	D	0.989850521087646	0.80073	D	0.955704	0.83186	D	0.75248444	0.81013	0.7352574	0.84353	0.75248444	0.81014	0.7352574	0.84354	-13.213	0.90220	D	.	.	0.944	0.86284	P	.	.	4.546651	0.71521	25.7	0.99769164771846197	0.85750	0.97924	0.78163	D	AEFBI	0.967774	0.99026	D	0.843755784289383	0.88749	9.697034	0.809567710933621	0.90453	10.41318	0.999999988831644	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.2	5.2	0.71720	7.902000	0.86082	7.654000	0.63860	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.116	0.89484	636	0.64483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2329.98	75	chr15	65197905	.	C	T	2329.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.216;DP=2010;ExcessHet=0.0000;FS=1.121;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.20;ReadPosRankSum=2.38;SOR=0.787	GT:AD:DP:GQ:PL	0/0:87,0:87:99:0,120,1800	20	0	1	0
chr15	65198943	65198943	C	T	exonic	CILP	.	nonsynonymous SNV	CILP:NM_003613:exon9:c.G1343A:p.R448H,	.	.	420	1050	47	5	0	57	0.0264256	.	.	3195415	CILP-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.13	T	0.713	P	0.132	B	0.033	N	0.977	N	0.695	N	1.17	T	-1.079	T	0.043	T	0.146	1.656	11.49	-5.55	-0.987	0.397	15.675	0.084	.	0.0012	0.00379393	0.0025	0.0003	0.0009	0.0003	0	0.0018	0.0044	0.0102	0.0023286	360	154602	rs35714337	0.0016	0.0016	0.0012	0.0019	0.0180	0.0015	0.0015	0.0152	0.0142	0.0005	0.0008	0.0015	7.557e-05	0.0002	0.0180	0.0009	0.0022	0.0106	0.0012	0.0012	0.0011	0.0013	0.0120	0.0011	0.0010	0.0095	0.0087	0.0003	0	0.0016	0.0014	0	0	0.0204	0.0011	0.0028	0.0120	0.131	0.26629	T	0.089	0.40426	T	0.713	0.42139	P	0.132	0.33005	B	0.032807	0.24980	N	0.434403	0.976827	0.25350	N	0.975	0.24501	L	1.17	0.37910	T	-1.89	0.44094	N	0.111	0.09772	-1.0795	0.07446	T	0.043	0.18701	T	10	0.008961439	0.00203	T	.	.	.	0.084	0.24469	.	.	0.300784259202	0.29686	0.4359575425787303	0.43512	0.276762445521	0.30141	0.249269723892	0.03691	T	0.099996	0.40535	T	-0.561982	0.00247	T	-0.57063	0.15391	T	0.0173038212512081	0.00470	T	0.889711	0.62218	D	0.07019133	0.15439	0.07204367	0.15495	0.07019133	0.15439	0.07204367	0.15495	-5.267	0.39615	T	.	.	0.091	0.13315	B	.	.	1.498561	0.19264	14.18	0.9521326956705326	0.26423	0.35992	0.25430	N	AEFBI	0.087050	0.17650	N	-0.683684130004529	0.16487	0.8404029	-0.709512211037322	0.16724	0.8860478	0.00839299784249875	0.11668	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	6.03	-5.55	0.02336	0.400000	0.20657	-2.572000	0.03594	-0.187000	0.09635	0.994000	0.38300	0.000000	0.08366	0.835000	0.39381	0.0:0.1855:0.0:0.8145	15.675	0.77063	636	0.64483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2378.98	37	chr15	65198943	.	C	T	2378.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.531;DP=987;ExcessHet=0.0000;FS=1.861;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=0.338;SOR=0.846	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr15	65205443	65205443	G	A	exonic	CILP	.	nonsynonymous SNV	CILP:NM_003613:exon5:c.C448T:p.R150C,	.	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.978	D	0.328	B	0.111	N	1.000	N	0.045	N	0.41	T	-1.019	T	0.075	T	0.26	1.316	10.31	0.901	0.280	1.207	11.057	0.143	0.0448336654938	.	.	1.682e-05	9.893e-05	0	0	0	1.528e-05	0	0	1.29e-05	2	154602	rs765292514	1.508e-05	1.573e-05	2.044e-05	9.653e-06	0.0005	9.87e-06	8.43e-06	0.0001	7.55e-05	0	0	0	0	0	0.0005	9.011e-06	9.955e-05	3.481e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	0	0	0.0002	0.061	0.37118	T	0.056	0.46632	T	0.978	0.58756	D	0.328	0.42011	B	0.110886	0.19423	N	0.558172	1	0.08975	N	-1.32	0.00691	N	0.41	0.57100	T	-1.03	0.27052	N	0.459	0.49602	-1.0188	0.24106	T	0.075	0.30210	T	10	0.30467236	0.47989	T	0.044834	0.61685	D	0.143	0.38195	.	.	0.593458155424	0.59024	0.5069644941143012	0.50618	0.316542733125	0.33910	0.24077630043	0.02861	T	0.04389	0.26645	T	-0.292901	0.09347	T	-0.476981	0.24768	T	0.128549948334694	0.15247	T	0.541246	0.18358	T	0.069845684	0.15337	0.04320712	0.05325	0.069845684	0.15337	0.04320712	0.05324	-7.831	0.59913	D	.	.	0.160	0.35267	B	.	.	2.086664	0.26544	17.15	0.99681592104111982	0.79307	0.70807	0.34745	D	AEFDBI	0.396841	0.47315	N	-0.425307232250909	0.24584	1.328496	-0.490776370657873	0.22407	1.216856	0.0525647688344946	0.14910	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.56	0.901	0.18416	1.240000	0.32334	3.070000	0.36196	-0.111000	0.15049	0.767000	0.29322	0.323000	0.24333	0.003000	0.05239	0.0:0.0973:0.4949:0.4078	11.057	0.47143	649	0.63102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2066.98	46	chr15	65205443	.	G	A	2066.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.252;DP=880;ExcessHet=0.0000;FS=3.244;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.43;ReadPosRankSum=-1.620e-01;SOR=1.021	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1620	20	0	1	0
chr15	65330328	65330328	C	T	exonic	IGDCC3	.	nonsynonymous SNV	IGDCC3:NM_004884:exon11:c.G1823A:p.R608H,	.	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.964	D	0.000	D	1.000	D	2.175	M	-0.22	T	-0.135	T	0.439	T	0.628	3.631	18.47	4.35	1.218	7.466	13.593	0.272	0.0638956482271	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs1405532603	2.531e-05	2.599e-05	2.587e-05	2.476e-05	0.0003	1.868e-05	1.631e-05	6.092e-05	2.521e-05	2.987e-05	4.475e-05	0	2.519e-05	1.873e-05	0.0003	2.338e-05	3.312e-05	2.319e-05	1.314e-05	1.313e-05	0	2.69e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.07	0.68238	T	0.004	0.74150	D	1.0	0.90584	D	0.964	0.71005	D	0.000051	0.53742	D	0.126644	0.999978	0.53665	D	2.91	0.84121	M	-0.22	0.66474	T	-2.3	0.51157	N	0.555	0.58031	-0.1349	0.79287	T	0.439	0.77809	T	10	0.6952081	0.72100	D	0.063896	0.69109	D	0.272	0.58758	0.367	0.37524	0.869428651524	0.86816	0.6972083331393912	0.69661	0.169117213538	0.19062	0.784066796303	0.79543	T	0.239154	0.60721	T	0.107901	0.65133	D	-0.0827835	0.64700	T	0.914657652378082	0.57138	D	0.89771	0.64209	D	0.09789443	0.23082	0.081019856	0.18378	0.09789443	0.23082	0.081019856	0.18377	-8.342	0.63377	D	.	.	0.182	0.39511	B	.;.	.;.	5.196013	0.87160	29.1	0.99925205770110082	0.99042	0.97968	0.78509	D	AEFDGBCI	0.930682	0.91834	D	0.565542919249723	0.71033	5.589853	0.4825316804223	0.66832	5.00382	0.999999999745463	0.74766	0.712529	0.81865	0	0.59043	0.45803	0	0.635938	0.45252	0	0.542086	0.14980	0	.	.	5.26	4.35	0.51454	5.812000	0.68868	5.932000	0.51336	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.721000	0.34804	0.0:0.9255:0.0:0.0745	13.593	0.61438	548	0.72362	Fibronectin type III;Fibronectin type III	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1218.98	35	chr15	65330328	.	C	T	1218.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.490e-01;DP=847;ExcessHet=0.0000;FS=3.021;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.35;ReadPosRankSum=-1.063e+00;SOR=0.617	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1247	20	0	1	0
chr15	65375359	65375359	A	C	exonic	IGDCC3	.	nonsynonymous SNV	IGDCC3:NM_004884:exon2:c.T147G:p.S49R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.922	P	0.724	P	0.000	D	0.677	D	1.165	L	-0.23	T	-0.523	T	0.228	T	0.179	1.411	10.65	-6.89	-1.449	-0.882	17.974	0.242	0.0307965821773	.	.	2.501e-05	0	0	0	0	4.539e-05	0	0	1.94e-05	3	154602	rs971761313	7.552e-06	8.209e-06	9.547e-06	5.53e-06	0.0002	4.05e-06	2.96e-06	3.11e-06	2.25e-06	0	2.241e-05	0	0	0	0.0002	7.222e-06	1.663e-05	0	1.972e-05	1.97e-05	2.57e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.247	0.17296	T	0.013	0.63109	D	0.922	0.51142	P	0.724	0.55036	P	0.000098	0.51296	D	0.173956	0.677326	0.33200	D	0.965	0.23975	L	-0.23	0.66652	T	-1.49	0.36385	N	0.389	0.43029	-0.5233	0.67792	T	0.228	0.59296	T	10	0.19900832	0.35893	T	0.030797	0.53030	D	0.242	0.54781	0.345	0.33950	0.375861065471	0.37200	0.6680216033378564	0.66740	0.595986134547	0.54857	0.560665726662	0.47363	T	0.122205	0.44571	T	-0.242733	0.15003	T	-0.478788	0.24574	T	0.215583115816116	0.21241	T	0.762724	0.38847	T	0.14398085	0.33069	0.13174501	0.31628	0.14398085	0.33068	0.13174501	0.31627	-6.716	0.51931	T	.	.	0.241	0.47513	B	.	.	0.370218	0.07427	4.056	0.96767874632756978	0.31023	0.11964	0.16974	N	AEFGBI	0.127394	0.24473	N	-0.977155342316528	0.09093	0.4289608	-1.21052520601847	0.05740	0.2743493	0.999999701159576	0.74766	0.740716	0.97744	0	0.563428	0.19063	0	0.0	0.00061	3	0.530356	0.10902	0	.	.	5.63	-6.89	0.01501	-1.124000	0.03372	-3.505000	0.02736	-0.137000	0.12594	0.001000	0.13787	0.000000	0.08366	0.019000	0.11356	0.7256:0.0:0.2744:0.0	17.974	0.89042	457	0.78953	Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1194.98	38	chr15	65375359	.	A	C	1194.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.530e-01;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.86;ReadPosRankSum=-1.005e+00;SOR=0.697	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1239	20	0	1	0
chr15	65400920	65400920	C	T	exonic	IGDCC4	.	nonsynonymous SNV	IGDCC4:NM_020962:exon5:c.G727A:p.D243N,	.	.	421	1076	24	1	0	26	0.0119376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.316	B	0.331	B	0.000	D	0.987	D	1.895	L	0.2	T	-0.722	T	0.195	T	0.074	4.436	23.6	5.15	2.409	3.591	18.648	0.168	.	0.0065	0.00319489	0.0082	0.0015	0.0042	0	0.0142	0.0099	0.0156	0.0096	0.00793	1226	154602	rs35223184	0.0100	0.0100	0.0102	0.0099	0.0109	0.0099	0.0098	0.0107	0.0107	0.0019	0.0045	0.0086	2.519e-05	0.0132	0.0073	0.0109	0.0090	0.0092	0.0071	0.0071	0.0066	0.0075	0.0103	0.0067	0.0066	0.0097	0.0094	0.0015	0.0022	0.0061	0.0081	0	0.0128	0.0068	0.0103	0.0047	0.0087	0.074	0.34621	T	0.029	0.54541	D	0.316	0.32901	B	0.331	0.42107	B	0.000351	0.45440	D	0.197388	0.987	0.40585	D	1.625	0.41611	L	0.2	0.60111	T	-1.53	0.37178	N	0.345	0.38643	-0.7224	0.59344	T	0.195	0.54869	T	10	0.00790751	0.00179	T	.	.	.	0.168	0.42943	.	.	0.606262950116	0.60311	0.4363160163768447	0.43548	0.141824913144	0.15982	0.425697028637	0.28620	T	0.019663	0.15622	T	-0.525935	0.00406	T	-0.51885	0.20412	T	0.0289151109726187	0.01824	T	0.774523	0.40643	T	0.2910968	0.52094	0.13779323	0.32927	0.2910968	0.52094	0.13779323	0.32926	-6.581	0.50907	T	.	.	0.125	0.26451	B	.	.	2.867318	0.37901	20.6	0.99857686324098682	0.93639	0.43895	0.27199	N	ALL	0.506759	0.53735	D	0.182778023657322	0.50372	3.22788	0.271385286996904	0.53875	3.554492	1.0	0.98316	0.839682	0.99964	0	0.703908	0.78521	0	0.736553	0.94036	0	0.526665	0.08891	0	.	.	5.15	5.15	0.70287	2.224000	0.42587	4.765000	0.44738	-0.190000	0.09434	0.999000	0.42656	1.000000	0.68203	0.641000	0.32449	0.0:1.0:0.0:0.0	18.648	0.91377	457	0.78953	Immunoglobulin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	642.98	33	chr15	65400920	.	C	T	642.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.320e-01;DP=802;ExcessHet=0.0000;FS=1.962;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.94;ReadPosRankSum=-2.720e+00;SOR=1.042	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1434	20	0	1	0
chr15	65624503	65624503	G	C	exonic	SLC24A1	.	nonsynonymous SNV	SLC24A1:NM_001301031:exon1:c.G423C:p.K141N	Night blindness, congenital stationary (complete), 1D, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.961	D	0.036	N	1.000	N	1.495	L	1.95	T	-0.665	T	0.376	T	0.064	2.879	15.59	2.88	0.719	0.773	6.818	0.071	0.0437088708563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0098	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0002	0.0002	0	7.768e-05	0	0	0	0.0002	8.519e-05	4.757e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.961	0.70482	D	0.036487	0.24515	N	0.289027	1	0.08975	N	1.83	0.48079	L	-0.39	0.72125	T	-1.89	0.44094	N	0.193	0.26957	-0.6646	0.62072	T	0.376	0.73370	T	10	0.14750645	0.27949	T	0.043709	0.61120	D	0.071	0.20720	0.248	0.18447	0.814655732074	0.81291	0.06411332316461787	0.06350	0.277029944497	0.30173	0.317594438791	0.13056	T	0.022452	0.58404	T	-0.167159	0.25664	T	-0.477889	0.24671	T	0.523743510246277	0.33503	D	0.830817	0.50934	T	0.14003113	0.32323	0.15122224	0.35631	0.14003113	0.32323	0.15122224	0.35630	-5.061	0.37611	T	.	.	0.386	0.58803	A	.;.;.;.;.;.	.;.;.;.;.;.	1.694742	0.21594	15.27	0.99300094975893183	0.58577	0.11248	0.16507	N	AEFBI	0.045447	0.07435	N	-0.329018778326971	0.28049	1.543991	-0.502545089104272	0.22083	1.197762	0.0106939354388256	0.12067	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.78	2.88	0.32617	1.145000	0.31189	2.573000	0.33375	-0.106000	0.15538	0.012000	0.18695	0.972000	0.29809	0.129000	0.19529	0.2157:0.0:0.7843:0.0	6.818	0.23027	605	0.67457	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	954.92	37	chr15	65624503	.	G	C	954.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-5.957e+00;DP=1530;ExcessHet=0.6776;FS=181.776;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=1.31;ReadPosRankSum=1.77;SOR=9.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:143,38:197:99:.:.:423,0,4751	17	0	4	0
chr15	65625539	65625539	A	G	exonic	SLC24A1	.	nonsynonymous SNV	SLC24A1:NM_001301031:exon1:c.A1459G:p.K487E	Night blindness, congenital stationary (complete), 1D, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1011567	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.000	D	1.000	D	2.45	M	-0.02	T	-0.080	T	0.448	T	0.834	4.789	27.0	5.86	2.237	7.315	15.415	0.441	0.0671492472665	.	.	8.28e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs745977526	3.421e-06	3.42e-06	5.445e-06	1.375e-06	3.598e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	1.656e-05	0	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.096	0.34800	T	0.005	0.76473	D	0.989	0.90584	D	0.98	0.92359	D	0.000000	0.84330	D	0.000000	0.999991	0.81001	D	2.07	0.56829	M	-0.02	0.62918	T	-3.84	0.72240	D	0.791	0.81162	-0.0796	0.80562	T	0.448	0.78348	T	10	0.6029446	0.67015	D	0.067149	0.70084	D	0.441	0.74447	0.261	0.20473	0.874030273633	0.87280	0.7647063837806078	0.76419	0.876422331603	0.69590	0.733593821526	0.72031	T	0.091415	0.74393	T	0.222876	0.76047	D	0.0823698	0.75737	D	0.990809440612793	0.81037	D	0.962504	0.86020	D	0.62241673	0.73893	0.54210067	0.73535	0.62241673	0.73894	0.54210067	0.73535	-8.498	0.64904	D	.	.	0.538	0.70641	A	.;.;.;.;.;.	.;.;.;.;.;.	4.372934	0.67337	25.1	0.99816912920290091	0.90061	0.99391	0.95423	D	AEFBI	0.859937	0.77771	D	0.817721078587391	0.87202	9.136921	0.799048345361949	0.89726	10.09575	0.9999999997764	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.86	5.86	0.93936	7.304000	0.78201	11.283000	0.91806	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.415	0.74686	619	0.66147	Sodium/calcium exchanger membrane region;Sodium/calcium exchanger membrane region;.;Sodium/calcium exchanger membrane region;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2243.98	37	chr15	65625539	.	A	G	2243.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.289e+00;DP=958;ExcessHet=0.0000;FS=1.072;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.042;SOR=0.592	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr15	65644510	65644510	G	A	exonic	SLC24A1	.	nonsynonymous SNV	SLC24A1:NM_001254740:exon2:c.G118A:p.E40K	Night blindness, congenital stationary (complete), 1D, autosomal recessive, Autosomal recessive	.	3	1517	2	0	0	2	0.000658762	.	.	1405084	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.34	T	0.974	D	0.647	P	0.143	U	1.000	N	1.7	L	-0.06	T	-0.755	T	0.337	T	0.331	3.556	18.13	3.53	1.161	3.320	10.305	0.079	0.024115029217	.	.	2.735e-05	0	0	0	0	5.165e-05	0	0	2.59e-05	4	154602	rs763726316	1.752e-05	1.847e-05	1.944e-05	1.557e-05	8.228e-06	1.203e-05	1.017e-05	3.87e-06	2.8e-06	0	0	0.0005	0	0	0	8.228e-06	6.76e-05	0	2.628e-05	2.627e-05	2.569e-05	2.69e-05	1.47e-05	8.14e-06	5.14e-06	.	.	0	0	0	0.0009	0	0	0	1.47e-05	0	0	0.033	0.46129	D	0.219	0.26306	T	0.974	0.57829	D	0.647	0.52336	P	0.142522	0.02897	U	2.436200	1	0.81001	D	2.365	0.68172	M	-0.06	0.68329	T	-1.21	0.30964	N	0.326	0.40665	-0.7552	0.57662	T	0.337	0.70363	T	10	0.11666596	0.22014	T	0.024115	0.47104	T	0.079	0.23065	0.242	0.17524	0.80309898969	0.80125	0.3576150364052444	0.35675	0.253525898805	0.27924	0.366490870714	0.20327	T	0.012983	0.53041	T	-0.0552372	0.43647	T	-0.265284	0.48296	T	0.109902141505471	0.13413	T	0.906209	0.66975	D	0.063410394	0.13347	0.06727513	0.13896	0.063410394	0.13347	0.06727513	0.13896	-4.337	0.28692	T	.	.	0.082	0.12323	B	.;.;.;.;.	.;.;.;.;.	3.312300	0.45517	22.1	0.99844717447806497	0.92489	0.82625	0.41827	D	AEFDBCI	0.150874	0.27525	N	0.101237424515873	0.46519	2.891148	0.132608726659028	0.46225	2.872143	0.999999931267107	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.658983	0.55881	0	0.550183	0.17644	0	.	.	4.47	3.53	0.39533	3.070000	0.49732	3.060000	0.36156	0.676000	0.76740	0.998000	0.41325	0.999000	0.35428	0.941000	0.48210	0.0:0.0:0.8019:0.1981	10.305	0.42853	725	0.54935	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	696.98	33	chr15	65644510	.	G	A	696.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.063;DP=753;ExcessHet=0.0000;FS=3.652;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=-8.250e-01;SOR=0.345	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	20	0	1	0
chr15	65965031	65965031	G	A	exonic	MEGF11	.	nonsynonymous SNV	MEGF11:NM_001385030:exon7:c.C764T:p.T255M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.993	D	0.84	P	0.110	U	1.000	N	3.195	M	2.38	T	-0.744	T	0.114	T	0.236	3.504	17.91	3.99	2.311	2.135	7.529	0.171	0.0939259794913	.	0.00139776	0.0005	0	0	0	0	0	0	0.0023	0.0002199	34	154602	rs528077898	0.0002	0.0002	0.0001	0.0002	0.0023	0.0002	0.0001	0.0020	0.0019	3.047e-05	0	0	2.625e-05	0	0.0004	4.011e-05	0.0002	0.0023	0.0001	0.0001	6.421e-05	0.0002	0.0027	8.655e-05	7.249e-05	0.0016	0.0013	0	0	0	0	0.0002	0	0	8.818e-05	0	0.0027	0.003	0.78490	D	0.017	0.69154	D	0.989	0.65571	D	0.776	0.60170	P	0.109760	0.19471	U	0.361272	1	0.81001	D	2.73	0.79844	M	2.38	0.15843	T	-2.31	0.54059	N	0.326	0.38746	-0.7442	0.58237	T	0.114	0.40490	T	10	0.01377368	0.00291	T	0.093926	0.76161	D	0.171	0.43483	0.177	0.08379	0.507628581994	0.50403	0.13171059410914254	0.13096	0.336386006611	0.35634	0.485860645771	0.36866	T	0.135651	0.46759	T	-0.488975	0.00658	T	-0.488385	0.23560	T	0.251829942922954	0.22955	T	0.934707	0.77145	D	0.08396275	0.19412	0.1638149	0.37982	0.08396275	0.19412	0.1638149	0.37981	-8.255	0.62794	D	.	.	0.158	0.47643	B	.;.;.;.;.	.;.;.;.;.	4.691305	0.75173	26.3	0.99828325513387617	0.91026	0.75786	0.37125	D	AEFBHCI	0.424476	0.48963	N	0.611640218912017	0.73910	6.043837	0.523274973125925	0.69559	5.377775	0.888258650453456	0.25784	0.57788	0.32782	0	0.586423	0.34054	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	4.97	3.99	0.45527	1.746000	0.37915	6.507000	0.55798	0.665000	0.62972	0.971000	0.34370	1.000000	0.68203	0.476000	0.28476	0.0:0.1442:0.5613:0.2945	7.529	0.26843	182	0.92924	EGF-like domain|Laminin EGF domain|EGF-like domain;.;EGF-like domain|Laminin EGF domain|EGF-like domain;EGF-like domain|Laminin EGF domain|EGF-like domain;Laminin EGF domain|EGF-like domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1209.98	54	chr15	65965031	.	G	A	1209.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.226e+00;DP=1248;ExcessHet=0.0000;FS=0.797;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=-8.110e-01;SOR=0.798	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	20	0	1	0
chr15	66119137	66119137	G	A	exonic	MEGF11	.	nonsynonymous SNV	MEGF11:NM_001385031:exon3:c.C10T:p.R4W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.999	D	.	.	1.000	D	1.845	L	-2.15	D	0.418	D	0.724	D	0.84	4.617	25.2	5.29	2.478	5.284	12.991	0.705	0.0379646633797	.	.	.	.	.	.	.	.	.	.	.	.	.	rs765433861	1.215e-05	1.163e-05	9.871e-06	1.449e-05	6.33e-05	7.4e-06	6.05e-06	1.048e-05	4.68e-06	6.33e-05	2.801e-05	0	0	0	0	1.112e-05	1.723e-05	1.262e-05	6.577e-06	6.569e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.002	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999995	0.81001	D	2.215	0.62545	M	-2.22	0.87038	D	-4.59	0.78891	D	0.752	0.78356	0.418	0.89365	D	0.724	0.90528	D	9	0.81799453	0.81023	D	0.037965	0.57939	D	0.705	0.89422	0.616	0.75000	0.634044673573	0.63104	0.5844959827551395	0.58379	0.502531134374	0.48607	0.900922179222	0.96542	D	0.288448	0.66124	T	0.154713	0.69709	D	0.221127	0.84232	D	0.903674006462097	0.55694	D	0.989876	0.96783	D	0.25609466	0.48648	0.28724572	0.54735	0.25609466	0.48648	0.28724572	0.54735	-10.34	0.75922	D	.	.	0.643	0.70629	P	.;.;.	.;.;.	5.424787	0.90741	31	0.99933052684278856	0.99488	0.96589	0.69899	D	AEFBI	0.854841	0.77190	D	0.690258828616028	0.78993	6.985009	0.679160663175073	0.80802	7.379986	0.999997600759176	0.74766	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	5.391000	0.66015	6.532000	0.55860	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.8388:0.1612	12.991	0.58023	339	0.86048	EMI domain;EMI domain;EMI domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2136.98	46	chr15	66119137	.	G	A	2136.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.470e-01;DP=951;ExcessHet=0.0000;FS=2.924;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.34;ReadPosRankSum=0.727;SOR=0.666	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1575	20	0	1	0
chr15	66311809	66311809	A	G	exonic	DIS3L	.	nonsynonymous SNV	DIS3L:NM_001323937:exon4:c.A266G:p.N89S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.0	B	0.0	B	0.596	N	1.000	N	0.69	N	1.99	T	-1.020	T	0.045	T	0.055	-0.251	2.793	-8.23	-0.950	-0.339	4.227	0.011	0.00316732767502	.	.	8.242e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs770512116	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.823	0.03068	T	0.437	0.13441	T	0.0	0.02946	B	0.0	0.01387	B	0.596391	0.05621	N	1.215120	1	0.08975	N	-0.715	0.01801	N	1.98	0.42888	T	-0.2	0.12847	N	0.16	0.16725	-1.0196	0.23845	T	0.045	0.19316	T	10	0.02154687	0.00518	T	0.003167	0.06936	T	0.011	0.01250	0.252	0.19067	0.165133752707	0.16062	0.08707328693908545	0.08641	0.130525475997	0.14724	0.292182207108	0.09241	T	0.002413	0.02156	T	-0.469519	0.00856	T	-0.74308	0.03762	T	0.0246056279775579	0.01221	T	0.733327	0.34901	T	0.016114838	0.00177	0.015128896	0.00005	0.016114838	0.00177	0.015128896	0.00005	-2.773	0.09335	T	.	.	0.061	0.01109	B	.;.;.	.;.;.	0.034369	0.04523	1.222	0.61136659980722963	0.06634	0.03064	0.07970	N	AEFBI	0.039809	0.05833	N	-1.32062669376653	0.03440	0.1536503	-1.37660086971923	0.03503	0.1635275	0.997339143672103	0.35509	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.14	-8.23	0.00907	-0.320000	0.08070	-0.425000	0.09259	-0.552000	0.04894	0.000000	0.06391	0.000000	0.08366	0.639000	0.32395	0.1429:0.0811:0.4871:0.2889	4.227	0.10039	621	0.65931	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	841.98	39	chr15	66311809	.	A	G	841.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.193;DP=844;ExcessHet=0.0000;FS=1.628;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.10;ReadPosRankSum=0.792;SOR=0.690	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1116	20	0	1	0
chr15	66326260	66326260	C	G	exonic	DIS3L	.	nonsynonymous SNV	DIS3L:NM_001323937:exon11:c.C1719G:p.S573R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.029	B	0.033	B	0.056	N	1.000	D	0.49	N	1.3	T	-1.076	T	0.043	T	0.166	2.434	14.10	2.44	0.229	0.607	5.619	0.025	0.00807237602779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	7.595e-05	1.363e-06	1.376e-06	1.801e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.801e-06	0	0	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.155	0.25355	T	0.353	0.17320	T	0.029	0.19866	B	0.033	0.22329	B	0.055829	0.22610	N	0.539436	0.999548	0.47497	D	-0.285	0.03692	N	1.3	0.35590	T	-1.92	0.44657	N	0.196	0.22228	-1.0764	0.08063	T	0.043	0.18618	T	10	0.08429423	0.14113	T	0.008072	0.21393	T	0.025	0.05312	0.424	0.46857	0.500994481783	0.49735	0.48282530288770603	0.48202	0.189759959303	0.21295	0.441389143467	0.30767	T	0.019826	0.15725	T	-0.2058	0.19975	T	-0.533394	0.18948	T	0.371591597795486	0.27858	T	0.811819	0.46320	T	0.13266377	0.30883	0.17544033	0.40009	0.13266377	0.30882	0.17544033	0.40008	-9.64	0.71728	D	.	.	0.195	0.42820	B	.;.	.;.	2.006311	0.25495	16.78	0.99354999151066503	0.60738	0.93367	0.58027	D	AEFBI	0.310496	0.41649	N	-0.52080163687102	0.21409	1.135919	-0.344169861240159	0.26690	1.475863	0.235350875039061	0.18512	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	2.44	0.28875	0.637000	0.24348	0.590000	0.19811	0.581000	0.30040	0.997000	0.40164	0.998000	0.33993	0.995000	0.73285	0.0:0.5695:0.1341:0.2964	5.619	0.16725	644	0.63734	.;Ribonuclease II/R|Ribonuclease II/R	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1667	421.01	75	chr15	66326260	.	C	G	421.01	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-4.199e+00;DP=1586;ExcessHet=2.5830;FS=250.229;InbreedingCoeff=-0.2058;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.66;ReadPosRankSum=1.02;SOR=10.704	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1243	14	0	7	0
chr15	66329044	66329044	G	A	exonic	DIS3L	.	nonsynonymous SNV	DIS3L:NM_001323937:exon12:c.G1898A:p.R633H	.	.	438	1081	3	0	0	3	0.00138568	.	.	3185050	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	N	1.000	D	1.815	L	1.19	T	-0.794	T	0.147	T	0.676	4.755	26.6	4.85	1.427	7.891	13.812	0.487	.	0.0089	0.00319489	0.0061	0.0028	0.0032	0.0001	0.0113	0.0085	0.0132	0.0009	0.0060737	939	154602	rs35711894	0.0098	0.0098	0.0100	0.0096	0.0115	0.0097	0.0096	0.0113	0.0112	0.0019	0.0042	7.653e-05	0.0001	0.0132	0.0031	0.0115	0.0085	0.0013	0.0068	0.0068	0.0072	0.0065	0.0103	0.0065	0.0064	0.0097	0.0094	0.0021	0.0011	0.0059	0	0	0.0131	0.0102	0.0103	0.0057	0.0017	0.004	0.65419	D	0.004	0.74150	D	1.0	0.90584	D	0.998	0.88582	D	0.000002	0.62929	N	0.099081	0.999986	0.54805	D	2.56	0.74772	M	1.19	0.37578	T	-4.3	0.76576	D	0.906	0.90704	-0.7945	0.55467	T	0.147	0.47201	T	10	0.02571261	0.00757	T	.	.	.	0.487	0.77528	.	.	0.639482846592	0.63651	0.7611553435207957	0.76063	0.776614367285	0.65069	0.479992300272	0.36056	T	0.157116	0.49958	T	-0.247185	0.14445	T	-0.120022	0.61801	T	0.0241250739628449	0.01160	T	0.974802	0.91047	D	0.7229834	0.79328	0.55674416	0.74361	0.7229834	0.79329	0.55674416	0.74362	-12.367	0.86592	D	.	.	0.257	0.49186	B	.;.	.;.	5.209472	0.87414	29.2	0.9995479155018	0.99969	0.98319	0.81588	D	AEFBI	0.906363	0.85905	D	0.610079142768646	0.73810	6.027608	0.561623813978131	0.72209	5.774009	0.999997531559574	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.674467	0.66132	0	.	.	5.76	4.85	0.62375	8.017000	0.88732	8.605000	0.77744	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0734:0.0:0.9266:0.0	13.812	0.62762	657	0.62240	.;Ribonuclease II/R|Ribonuclease II/R	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2079.98	34	chr15	66329044	.	G	A	2079.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=880;ExcessHet=0.0000;FS=3.781;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=0.915;SOR=0.997	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1230	20	0	1	0
chr15	66497697	66497697	T	A	exonic	SNAPC5	.	nonsynonymous SNV	SNAPC5:NM_001329613:exon1:c.A35T:p.E12V	.	.	412	1098	12	0	0	12	0.00543478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.997	D	0.000	D	1.000	D	.	.	.	.	-0.008	T	0.455	T	0.834	3.071	16.25	5.38	2.037	2.996	15.052	0.329	0.256562031227	.	0.000998403	0.0009	0.0012	0.0005	0	0	0.0011	0	0.0008	0.0007568	117	154602	rs143176301	0.0007	0.0007	0.0007	0.0007	0.0134	0.0007	0.0006	0.0109	0.0100	0.0006	0.0008	0.0033	0	0.0002	0.0134	0.0006	0.0012	0.0009	0.0006	0.0006	0.0006	0.0006	0.0014	0.0005	0.0005	0.0009	0.0008	0.0006	0	0.0014	0.0023	0	9.422e-05	0.0102	0.0005	0.0024	0.0004	0.0	0.91255	D	0.003	0.92824	D	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.051322	0.999996	0.58761	D	.	.	.	.	.	.	-6.92	0.93697	D	0.636	0.64903	-0.0079	0.82093	T	0.455	0.78749	T	8	0.03437254	0.01644	T	0.256562	0.89335	D	0.329	0.65126	.	.	0.386882687439	0.38305	0.5695062255128629	0.56878	0.0255764802704	0.02614	0.742753446102	0.73378	T	0.359983	0.72630	T	0.0555186	0.59049	T	0.239496	0.85124	D	0.0909016260828954	0.11325	T	0.867413	0.60664	D	0.9143146	0.92700	0.94231385	0.97918	0.9143146	0.92701	0.94231385	0.97919	-10.641	0.79986	D	0.7148929900600671	0.79546	0.963	0.92161	P	.;.;.;.;.	.;.;.;.;.	4.629637	0.73600	26.0	0.93635043294018161	0.23511	0.86812	0.46175	D	ALL	0.618480	0.60427	D	0.581286405822694	0.72009	5.738448	0.57352084886359	0.73048	5.907093	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.38	5.38	0.77279	2.970000	0.48932	7.775000	0.68548	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	15.052	0.71542	829	0.39537	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1269.98	33	chr15	66497697	.	T	A	1269.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.707;DP=794;ExcessHet=0.0000;FS=1.849;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.87;ReadPosRankSum=-3.700e-01;SOR=0.493	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1325	20	0	1	0
chr15	66497698	66497698	C	T	exonic	SNAPC5	.	nonsynonymous SNV	SNAPC5:NM_001329613:exon1:c.G34A:p.E12K	.	.	411	1099	12	0	0	12	0.00542986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.99	D	0.000	D	1.000	D	.	.	.	.	0.116	D	0.521	D	0.845	3.764	19.11	5.38	2.517	4.400	18.726	0.777	0.248454682076	.	0.000998403	0.0009	0.0012	0.0005	0	0	0.0011	0	0.0008	0.0007568	117	154602	rs151153879	0.0007	0.0007	0.0007	0.0007	0.0131	0.0007	0.0006	0.0106	0.0097	0.0006	0.0008	0.0033	0	0.0002	0.0131	0.0006	0.0012	0.0009	0.0006	0.0006	0.0006	0.0006	0.0014	0.0005	0.0005	0.0009	0.0008	0.0006	0	0.0014	0.0023	0	9.411e-05	0.0102	0.0005	0.0024	0.0004	0.0	0.91255	D	0.013	0.92824	D	0.996	0.68779	D	0.99	0.78936	D	0.000000	0.84330	D	0.051322	0.999996	0.58761	D	.	.	.	.	.	.	-3.96	0.74051	D	0.647	0.67650	0.116	0.84465	D	0.521	0.82105	D	8	0.059261233	0.07096	T	0.248455	0.89011	D	0.777	0.92542	.	.	0.332386209738	0.32853	0.649857374773167	0.64921	0.0252044935394	0.02567	0.813768982887	0.84071	D	0.348235	0.71625	T	0.0842364	0.62532	D	0.280747	0.87166	D	0.0617009040666935	0.07434	T	0.934107	0.78679	D	0.9519016	0.96459	0.9313925	0.97190	0.9519016	0.96459	0.9313925	0.97191	-8.765	0.66172	D	0.37750976398392655	0.47233	0.918	0.86244	P	.;.;.;.;.	.;.;.;.;.	4.901762	0.80576	27.4	0.99450028279118829	0.65223	0.94750	0.62201	D	ALL	0.789646	0.71878	D	0.679275255566057	0.78275	6.838729	0.676726858984513	0.80615	7.33834	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.38	5.38	0.77279	4.436000	0.59691	7.561000	0.60481	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.726	0.91676	829	0.39537	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1269.98	33	chr15	66497698	.	C	T	1269.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.29;DP=794;ExcessHet=0.0000;FS=1.849;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.87;ReadPosRankSum=-6.140e-01;SOR=0.493	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1325	20	0	1	0
chr15	66563545	66563545	C	T	exonic	LCTL	.	nonsynonymous SNV	LCTL:NM_207338:exon5:c.G451A:p.V151M,	.	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.991	D	0.000	D	1.000	D	3.47	M	1.14	T	-0.210	T	0.331	T	0.918	5.142	32	5.67	2.689	7.355	18.757	0.534	0.0289400261699	0.0003	.	9.098e-05	0	0	0.0001	0	0.0001	0.0011	0	7.76e-05	12	154602	rs142935775	0.0004	0.0004	0.0004	0.0004	0.0005	0.0003	0.0003	0.0004	0.0004	0	0	0	0	0	0	0.0005	0.0001	0	0.0001	0.0001	0.0001	0.0002	0.0002	9.745e-05	8.259e-05	0.0002	0.0001	7.236e-05	0	0	0	0	0	0	0.0002	0.0005	0.0002	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.991	0.79672	D	0.000001	0.84330	D	0.053633	1	0.81001	D	3.48	0.92553	M	1.14	0.38397	T	-2.76	0.58569	D	0.86	0.85660	-0.2096	0.77424	T	0.331	0.69868	T	10	0.7987344	0.79308	D	0.02894	0.51534	D	0.534	0.80426	.	.	0.589192105058	0.58593	0.8516928581184365	0.85131	0.822855685538	0.67260	0.696313977242	0.66612	T	0.18956	0.54381	T	0.095936	0.63850	D	0.190172	0.82579	D	0.768963813781738	0.44377	D	0.988876	0.96221	D	0.76431406	0.81708	0.7380213	0.84515	0.76431406	0.81710	0.7380213	0.84516	-10.351	0.75986	D	.	.	0.356	0.56990	A	.	.	4.970803	0.82265	27.7	0.99905978434628451	0.97651	0.99455	0.96243	D	AEFDGBI	0.843453	0.76048	D	0.95127764229564	0.94036	12.45472	0.888066785451537	0.95032	13.25017	0.999999999999999	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.633917	0.49826	0	.	.	5.67	5.67	0.87673	7.458000	0.79818	4.656000	0.44217	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.872000	0.41544	0.0:1.0:0.0:0.0	18.757	0.91801	688	0.59122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	698.98	34	chr15	66563545	.	C	T	698.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.511e+00;DP=727;ExcessHet=0.0000;FS=10.103;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.26;ReadPosRankSum=3.07;SOR=0.348	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1124	20	0	1	0
chr15	66564803	66564803	G	A	exonic	LCTL	.	nonsynonymous SNV	LCTL:NM_207338:exon3:c.C155T:p.T52M,	.	.	420	1073	27	2	0	31	0.0142398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.968	D	0.000	N	1.000	D	1.915	M	1.48	T	-0.990	T	0.107	T	0.528	3.601	18.34	3.67	0.712	4.595	8.255	0.239	0.0355688345853	0.0048	0.00299521	0.0053	0.0011	0.0027	0.0001	0.0041	0.0064	0.0089	0.0084	0.0049999	773	154602	rs141474589	0.0044	0.0044	0.0042	0.0046	0.0153	0.0043	0.0042	0.0127	0.0117	0.0011	0.0030	0.0072	2.519e-05	0.0027	0.0153	0.0044	0.0047	0.0070	0.0035	0.0035	0.0038	0.0033	0.0068	0.0033	0.0032	0.0050	0.0046	0.0011	0	0.0029	0.0055	0.0002	0.0018	0.0170	0.0052	0.0071	0.0068	0.003	0.68238	D	0.008	0.67890	D	1.0	0.90584	D	0.968	0.71741	D	0.000024	0.55875	N	0.154862	0.988993	0.81001	D	1.715	0.44382	L	1.48	0.31731	T	-0.53	0.16393	N	0.778	0.77507	-0.9904	0.32500	T	0.107	0.38979	T	10	0.02867639	0.00998	T	0.035569	0.56429	D	0.239	0.54358	.	.	0.692761960973	0.69012	0.48820413123872963	0.48740	0.831366708963	0.67633	0.648484647274	0.59770	T	0.03445	0.23326	T	-0.401514	0.02263	T	-0.344678	0.39814	T	0.0219578331197526	0.00903	T	0.873913	0.58386	D	0.37251082	0.58770	0.32506245	0.58425	0.37251082	0.58770	0.32506245	0.58424	-5.302	0.39963	T	.	.	0.091	0.13268	B	.	.	4.548931	0.71574	25.7	0.99884995108647867	0.96049	0.91953	0.54621	D	AEFDBI	0.281037	0.39471	N	0.436369099550584	0.63436	4.577046	0.365866373287378	0.59470	4.12502	0.999954569944967	0.48110	0.50284	0.20314	0	0.624306	0.53593	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.55	3.67	0.41236	4.005000	0.56787	9.531000	0.80947	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.138000	0.19872	0.2446:0.0:0.7554:0.0	8.255	0.30912	688	0.59122	Glycosyl hydrolases family 1, N-terminal conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1755.98	35	chr15	66564803	.	G	A	1755.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.37;DP=887;ExcessHet=0.0000;FS=3.054;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=-2.079e+00;SOR=0.986	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,111,1665	20	0	1	0
chr15	66781000	66781000	C	T	exonic	SMAD6	.	nonsynonymous SNV	SMAD6:NM_005585:exon4:c.C956T:p.A319V,	Aortic valve disease 2, Autosomal dominant	YES	0	1508	14	0	0	14	0.00462046	.	.	400802	not_provided|Inborn_genetic_diseases|Aortic_valve_disease_2|SMAD6-related_disorder	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013902,MedGen:C3542024,OMIM:614823|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.18	T	0.846	P	0.297	B	0.000	D	1.000	D	1.39	L	-4.12	D	0.697	D	0.813	D	0.562	3.608	18.37	5.6	2.639	5.977	19.599	0.527	0.0767883996253	0.0003	0.000998403	0.0013	0.0004	0.0015	0	0	0.0012	0	0.0021	0.0003881	60	154602	rs148705603	0.0003	0.0003	0.0003	0.0003	0.0040	0.0003	0.0003	0.0028	0.0023	3.076e-05	0.0002	0	2.663e-05	0.0001	0.0040	0.0002	0.0005	0.0016	0.0002	0.0002	0.0003	0.0002	0.0023	0.0002	0.0002	0.0013	0.0010	2.405e-05	0	0.0001	0	0	0	0.0034	0.0003	0	0.0023	0.035	0.43708	D	0.075	0.42794	T	0.846	0.46778	P	0.297	0.40924	B	0.000043	0.53742	D	0.162323	0.999986	0.54805	D	1.25	0.31749	L	-4.2	0.96934	D	-1.21	0.30762	N	0.08	0.05542	0.697	0.93135	D	0.813	0.93694	D	10	0.014975667	0.00314	T	0.076788	0.72616	D	0.527	0.80007	.	.	0.899869699253	0.89888	0.3696680241509792	0.36880	0.287055191876	0.31101	0.611766695976	0.54566	T	0.352602	0.72001	T	-0.0999958	0.36426	T	0.064572	0.74549	D	0.0235789092115007	0.01093	T	0.859414	0.55137	D	0.13933204	0.32190	0.15219748	0.35819	0.13933204	0.32190	0.15219748	0.35819	-4.001	0.23819	T	0.16263586563156013	0.19990	0.182	0.39477	B	.	.	3.598537	0.50813	23.0	0.99710938985853192	0.81353	0.90917	0.52507	D	AEFGBCI	0.759812	0.69802	D	0.313917936354864	0.56863	3.85174	0.437907202079968	0.63944	4.638658	0.999999999997117	0.74766	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.6	5.6	0.84997	6.058000	0.70754	7.601000	0.61564	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	19.599	0.95546	424	0.81215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	716.98	33	chr15	66781000	.	C	T	716.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.143e+00;DP=649;ExcessHet=0.0000;FS=1.895;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.41;ReadPosRankSum=-5.880e-01;SOR=0.379	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1091	20	0	1	0
chr15	67465269	67465269	C	T	exonic	IQCH	.	nonsynonymous SNV	IQCH:NM_001322472:exon11:c.C1427T:p.T476I	.	.	429	1072	19	2	0	23	0.0106138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.001	B	0.002	B	0.061	N	1.000	N	0	N	0.9	T	-1.033	T	0.038	T	0.051	0.446	6.420	-10.1	-3.221	-3.394	1.579	0.020	.	0.0007	0.00499201	0.0035	0.0002	0.0004	0	0.0002	0.0006	0.0066	0.0221	0.0031047	480	154602	rs36067711	0.0018	0.0018	0.0011	0.0024	0.0220	0.0017	0.0017	0.0212	0.0209	0.0001	0.0006	0.0009	0	0.0001	0.0045	0.0004	0.0021	0.0220	0.0012	0.0012	0.0008	0.0017	0.0258	0.0011	0.0010	0.0221	0.0207	0.0002	0	0.0003	0.0003	0.0002	0	0.0136	0.0006	0.0019	0.0258	0.204	0.20607	T	0.194	0.28120	T	0.0	0.07471	B	0.002	0.06944	B	0.061213	0.02142	N	1.971120	1	0.08975	N	1.04	0.26193	L	0.89	0.45636	T	-1.48	0.36586	N	0.066	0.11197	-1.0332	0.19427	T	0.038	0.16290	T	10	0.0029875338	0.00049	T	.	.	.	0.020	0.03691	.	.	0.0138822411134	0.00435	0.23561869525893303	0.23476	0.108590475103	0.12248	0.276120305061	0.06957	T	0.046214	0.27356	T	-0.7134	0.00030	T	-0.780606	0.02435	T	0.0105919242418063	0.00148	T	0.467153	0.13745	T	0.028126314	0.02102	0.03579109	0.02898	0.028126314	0.02102	0.03579109	0.02898	-4.728	0.33742	T	.	.	0.099	0.19800	B	.;.;.	.;.;.	-1.750442	0.00175	0.003	0.81642553260835471	0.13787	0.01283	0.04476	N	AEFDGBI	0.040499	0.06034	N	-2.00195676999597	0.00210	0.008980746	-2.10308409786073	0.00184	0.008079054	0.999999999999998	0.74766	0.516011	0.20929	0	0.573888	0.26702	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.05	-10.1	0.00330	-3.429000	0.00527	-5.629000	0.01650	-0.902000	0.02317	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1868:0.438:0.2202:0.155	1.579	0.02472	778	0.48011	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1343.98	34	chr15	67465269	.	C	T	1343.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.128e+00;DP=868;ExcessHet=0.0000;FS=2.098;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.14;ReadPosRankSum=-8.590e-01;SOR=0.522	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1527	20	0	1	0
chr15	68214373	68214373	C	G	exonic	CLN6	.	nonsynonymous SNV	CLN6:NM_017882:exon3:c.G214C:p.E72Q,	Ceroid lipofuscinosis, neuronal, 6, Autosomal recessive;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, Autosomal recessive	YES	2	1512	8	0	0	8	0.00263852	.	.	193642	not_specified|Inborn_genetic_diseases|not_provided|Ceroid_lipofuscinosis,_neuronal,_6B_(Kufs_type)|Neuronal_ceroid_lipofuscinosis	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0008768,MedGen:C5561927,OMIM:204300|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.099	B	0.066	B	0.000	N	1.000	D	1.67	L	-3.48	D	0.393	D	0.761	D	0.692	3.095	16.34	4.44	1.263	3.735	15.012	0.607	.	0.0012	0.00579073	0.0029	0.0039	0.0005	0	0	0.0002	0.0055	0.0173	0.0025485	394	154602	rs104894483	0.0012	0.0012	0.0008	0.0017	0.0163	0.0012	0.0012	0.0156	0.0153	0.0045	0.0002	0.0003	7.558e-05	0	0.0061	8.276e-05	0.0017	0.0163	0.0016	0.0016	0.0013	0.0019	0.0129	0.0015	0.0014	0.0103	0.0094	0.0041	0	0.0003	0	0	0	0	0.0001	0.0009	0.0129	0.197	0.27426	T	0.059	0.49120	T	0.003	0.11197	B	0.028	0.21332	B	0.000122	0.49741	N	0.172007	0.99281	0.81001	D	1.955	0.52871	M	-3.48	0.94584	D	-1.39	0.35194	N	0.327	0.40063	0.393	0.88985	D	0.761	0.91869	D	10	0.013344973	0.00283	T	.	.	.	0.607	0.84559	.	.	0.945954242979	0.94538	0.779437328201181	0.77894	0.851204937113	0.68538	0.369264423847	0.20726	T	0.704847	0.91532	D	-0.0894408	0.38169	T	0.113028	0.77773	D	0.0370855303537192	0.03170	T	0.90181	0.65830	D	0.07654831	0.17318	0.07454623	0.16320	0.09027843	0.21119	0.07138643	0.15281	-5.557	0.42398	T	0.3812480700580007	0.47564	0.102	0.46285	B	.;.;.;.	.;.;.;.	3.491926	0.48808	22.7	0.99111463123207033	0.52750	0.87751	0.47397	D	AEFGBCI	0.556453	0.56648	D	-0.09129572497973	0.37774	2.20251	0.0476089026384635	0.41957	2.529481	0.99999999476799	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.36	4.44	0.53164	3.882000	0.55873	4.126000	0.42002	0.597000	0.34315	0.999000	0.42656	1.000000	0.68203	0.678000	0.33484	0.0:0.8268:0.1732:0.0	15.012	0.71219	705	0.57330	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1128.98	36	chr15	68214373	.	C	G	1128.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.56;DP=780;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=-1.312e+00;SOR=0.752	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1071	20	0	1	0
chr15	68311073	68311073	G	A	exonic	ITGA11	.	nonsynonymous SNV	ITGA11:NM_001004439:exon26:c.C3095T:p.T1032M,	.	.	.	.	.	.	.	.	.	.	.	2684729	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.22	T	0.579	P	0.223	B	0.001	N	0.808	D	1.5	L	0.83	T	-0.875	T	0.110	T	0.415	2.004	12.66	4.03	1.208	1.502	11.649	0.106	0.0198617167551	.	.	8.297e-05	0	0	0	0	9.992e-05	0	0.0002	3.88e-05	6	154602	rs759923280	1.65e-05	1.847e-05	1.093e-05	2.213e-05	7.08e-05	1.116e-05	9.38e-06	3.039e-05	2.067e-05	0	0	0	0	0	0	1.624e-05	0	7.08e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.102	0.38450	T	0.579	0.38789	P	0.223	0.37929	B	0.001392	0.39175	N	0.279307	0.808448	0.34607	D	1.475	0.37068	L	0.81	0.48460	T	0.03	0.08340	N	0.36	0.40164	-0.8749	0.50158	T	0.110	0.39556	T	10	0.35351902	0.52156	T	0.019862	0.42327	T	0.106	0.30130	0.582	0.70861	0.767319904563	0.76519	0.5657626248781504	0.56504	0.130157849195	0.14680	0.40685069561	0.26021	T	0.062464	0.31924	T	-0.236213	0.15836	T	-0.393064	0.34193	T	0.180863916873932	0.19289	T	0.720928	0.38671	T	0.043577638	0.06815	0.085369945	0.19705	0.043577638	0.06814	0.085369945	0.19705	-5.982	0.46129	T	.	.	0.106	0.19679	B	.;.	.;.	1.943706	0.24691	16.49	0.99524212311624272	0.69469	0.77958	0.38394	D	AEFDGBI	0.268947	0.38533	N	-0.0668829531503265	0.38852	2.281926	-0.017331142677216	0.38931	2.300878	0.999999102445329	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.96	4.03	0.46115	1.610000	0.36480	4.408000	0.43271	0.676000	0.76740	0.945000	0.32849	0.999000	0.35428	0.241000	0.23027	0.0883:0.0:0.9117:0.0	11.649	0.50535	700	0.57880	.;Integrin alpha-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1391.98	35	chr15	68311073	.	G	A	1391.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=809;ExcessHet=0.0000;FS=2.646;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.20;ReadPosRankSum=0.481;SOR=0.879	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1059	20	0	1	0
chr15	69256032	69256032	G	A	exonic	GLCE	.	nonsynonymous SNV	GLCE:NM_001324091:exon3:c.G226A:p.A76T	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.629	P	0.124	B	0.001	D	0.994	D	0	N	1.43	T	-1.067	T	0.039	T	0.351	2.715	15.04	5.3	2.628	3.257	17.889	0.058	0.0067857423625	.	.	8.243e-06	0	8.682e-05	0	0	0	0	0	6.5e-06	1	154602	rs752780798	6.842e-07	6.841e-07	1.361e-06	0	2.237e-05	0	0	.	.	0	2.237e-05	0	0	0	0	0	0	0	6.571e-06	6.566e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.062	0.36912	T	0.61	0.16086	T	0.629	0.40170	P	0.124	0.32546	B	0.000506	0.43753	D	0.229124	0.989384	0.42120	D	1.95	0.52479	M	1.43	0.32958	T	0.25	0.04456	N	0.126	0.19190	-1.0665	0.10200	T	0.039	0.16763	T	10	0.09624064	0.17249	T	0.006786	0.17925	T	0.058	0.16647	0.135	0.03920	0.428630128466	0.42480	0.4579968576151879	0.45717	0.471192014707	0.46391	0.368964016438	0.20683	T	0.305907	0.67814	T	-0.168364	0.25483	T	-0.396755	0.33762	T	0.341625619634116	0.26688	T	0.761424	0.38629	T	0.15783668	0.35542	0.10905902	0.26279	0.15783668	0.35542	0.10905902	0.26278	-3.498	0.16403	T	.	.	0.072	0.07554	B	.;.	.;.	2.092058	0.26615	17.18	0.99539391228416541	0.70398	0.97393	0.74464	D	AEFDGBHI	0.316869	0.42103	N	0.00644386791645452	0.42149	2.534068	0.166657440938655	0.48031	3.024678	0.999999999270013	0.74766	0.743674	0.98306	0	0.588015	0.36545	0	0.630245	0.45026	0	0.714379	0.83352	0	.	.	5.3	5.3	0.74745	4.122000	0.57661	4.414000	0.43291	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.917000	0.45243	0.0:0.0:1.0:0.0	17.889	0.88783	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2531.98	155	chr15	69256032	.	G	A	2531.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.48;DP=965;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.34;ReadPosRankSum=-2.560e-01;SOR=0.691	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1350	20	0	1	0
chr15	69256054	69256054	A	G	exonic	GLCE	.	nonsynonymous SNV	GLCE:NM_001324091:exon3:c.A248G:p.K83R	.	.	429	1092	1	0	0	1	0.000457666	.	.	714572	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.42	T	0.001	B	0.001	B	0.000	D	0.806	D	0	N	1.48	T	-1.044	T	0.009	T	0.087	2.117	13.03	2.99	0.955	3.995	8.566	0.074	.	0.0094	0.0121805	0.0031	0.0302	0.0023	0	0	0.0005	0.0022	0.0002	0.0030853	477	154602	rs61746980	0.0013	0.0013	0.0015	0.0012	0.0321	0.0013	0.0013	0.0305	0.0298	0.0321	0.0032	0.0007	0	0	0.0019	0.0005	0.0028	0.0005	0.0100	0.0100	0.0103	0.0097	0.0324	0.0096	0.0094	0.0309	0.0303	0.0324	0	0.0078	0.0006	0	9.411e-05	0.0068	0.0005	0.0076	0.0004	0.214	0.28772	T	0.487	0.11656	T	0.001	0.07471	B	0.001	0.04355	B	0.000001	0.84330	D	0.094194	0.700816	0.34575	D	0.755	0.19153	N	1.48	0.31731	T	-0.19	0.09965	N	0.063	0.10056	-1.0441	0.16089	T	0.009	0.03096	T	10	0.002390802	0.00035	T	.	.	.	0.074	0.21613	.	.	0.465806656444	0.46208	0.39450988241106466	0.39365	0.319701965432	0.34168	0.433156967163	0.29640	T	0.333894	0.70370	T	-0.607302	0.00132	T	-0.622126	0.11018	T	0.0199262231920127	0.00693	T	0.754824	0.37774	T	0.13466361	0.31281	0.09052559	0.21232	0.13466361	0.31280	0.09052559	0.21232	-3.847	0.21508	T	.	.	0.088	0.11701	B	.;.	.;.	2.300044	0.29432	18.12	0.99491247469827204	0.67460	0.94950	0.62896	D	AEFDGBHI	0.244580	0.36566	N	-0.379095534821612	0.26215	1.429028	-0.172567938165722	0.32550	1.852965	0.999897900488652	0.45129	0.743674	0.98306	0	0.588015	0.36545	0	0.630245	0.45026	0	0.714379	0.83352	0	.	.	5.3	2.99	0.33673	3.963000	0.56480	4.180000	0.42331	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.8396:0.0:0.1604:0.0	8.566	0.32703	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2244.98	41	chr15	69256054	.	A	G	2244.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.323e+00;DP=976;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=1.23;SOR=0.691	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1350	20	0	1	0
chr15	69268342	69268342	C	T	exonic	GLCE	.	nonsynonymous SNV	GLCE:NM_001324092:exon4:c.C181T:p.L61F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.294	B	0.039	B	0.000	D	0.971	D	1.65	L	1.4	T	-1.071	T	0.071	T	0.257	1.306	10.28	5.39	2.525	3.057	12.781	0.062	0.00961212537353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.07473	T	0.673	0.06245	T	0.294	0.32391	B	0.039	0.23607	B	0.000014	0.62929	D	0.117299	0.97128	0.38859	D	1.67	0.42885	L	1.4	0.33630	T	-1.52	0.36980	N	0.229	0.26957	-1.0705	0.09304	T	0.071	0.28871	T	10	0.15230167	0.28770	T	0.009612	0.25130	T	0.062	0.17934	0.296	0.26041	0.385743280973	0.38186	0.1818463035224681	0.18103	0.496296462645	0.48146	0.511974096298	0.40498	T	0.594481	0.86912	D	-0.158924	0.26926	T	-0.46606	0.25943	T	0.38704913854599	0.28452	T	0.921108	0.71398	D	0.32328933	0.54916	0.21315694	0.45815	0.32328933	0.54916	0.21315694	0.45814	-5.327	0.40209	T	.	.	0.110	0.21125	B	.;.	.;.	2.142935	0.27288	17.41	0.98237384910952541	0.39449	0.91461	0.53581	D	AEFBI	0.372078	0.45785	N	-0.00556309749470511	0.41602	2.491405	0.150399244644302	0.47162	2.951	0.999953326985891	0.48110	0.706548	0.73137	0	0.588015	0.36545	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	3.119000	0.50115	3.363000	0.37875	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1639:0.8361:0.0:0.0	12.781	0.56857	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	809.98	34	chr15	69268342	.	C	T	809.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=790;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.02;ReadPosRankSum=-9.520e-01;SOR=0.665	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1199	20	0	1	0
chr15	69268861	69268861	A	G	exonic	GLCE	.	nonsynonymous SNV	GLCE:NM_001324092:exon4:c.A700G:p.M234V	.	.	434	1072	16	0	0	16	0.00740741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.309	B	0.09	B	0.000	D	1.000	D	2.175	M	0.97	T	-0.921	T	0.114	T	0.786	0.902	8.665	4.02	2.099	7.214	11.036	0.272	0.0168062404685	0.0020	0.000199681	0.0014	0	0.0012	0	0	0.0019	0.0022	0.0015	0.0013389	207	154602	rs147014086	0.0012	0.0012	0.0011	0.0012	0.0139	0.0011	0.0011	0.0114	0.0105	0.0002	0.0012	0.0110	5.038e-05	9.36e-05	0.0139	0.0009	0.0027	0.0014	0.0011	0.0011	0.0011	0.0011	0.0021	0.0010	0.0009	0.0011	0.0010	4.809e-05	0	0.0011	0.0124	0	9.407e-05	0.0136	0.0013	0.0014	0.0021	0.011	0.55530	D	0.028	0.54934	D	0.309	0.32767	B	0.09	0.29851	B	0.000000	0.84330	D	0.036254	1	0.81001	D	2.2	0.62015	M	0.97	0.42502	T	-2.1	0.47852	N	0.595	0.61426	-0.9214	0.45362	T	0.114	0.40490	T	10	0.012432635	0.00267	T	0.016806	0.38239	T	0.272	0.58758	.	.	0.441017621159	0.43723	0.7659170642754496	0.76540	0.571138452708	0.53254	0.698372006416	0.66909	T	0.401003	0.75842	T	-0.20798	0.19665	T	-0.101605	0.63273	T	0.0736864123935904	0.09159	T	0.963704	0.86510	D	0.77997917	0.82652	0.76286286	0.85990	0.77997917	0.82654	0.76286286	0.85991	-8.104	0.61778	D	.	.	0.258	0.54309	B	.;.	.;.	3.152068	0.42675	21.6	0.94784709287691893	0.25519	0.96558	0.69741	D	AEFBI	0.873180	0.79540	D	0.11504746496933	0.47166	2.946017	0.173533727048371	0.48403	3.056581	0.999917990890385	0.45857	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.23	4.02	0.45968	7.167000	0.77125	7.877000	0.72286	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.8445:0.1554:0.0:0.0	11.036	0.47016	923	0.18507	D-glucuronyl C5-epimerase, C-terminal;D-glucuronyl C5-epimerase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2121.98	34	chr15	69268861	.	A	G	2121.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.11;DP=1013;ExcessHet=0.0000;FS=1.805;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=0.126;SOR=0.562	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1199	20	0	1	0
chr15	70054601	70054601	T	C	exonic	TLE3	.	nonsynonymous SNV	TLE3:NM_001282982:exon14:c.A1453G:p.I485V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.993	D	0.997	D	0.000	D	1.000	D	1.17	L	2.81	T	-1.146	T	0.053	T	0.365	4.406	23.4	4.09	1.719	7.767	12.905	0.189	0.0311391837335	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1323461192	2.738e-06	2.736e-06	4.086e-06	1.376e-06	3.598e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	0	0	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.028	0.46910	D	0.132	0.34716	T	0.992	0.64738	D	0.947	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.2	0.30300	L	2.81	0.10975	T	-0.89	0.25770	N	0.615	0.66101	-1.1462	0.01143	T	0.053	0.22462	T	10	0.6234511	0.68108	D	0.031139	0.53292	D	0.189	0.46613	0.68	0.81788	0.0675242888579	0.06100	0.434431064721576	0.43360	2.30277208736	0.96484	0.816132426262	0.84435	D	0.297203	0.66981	T	-0.107745	0.35141	T	-0.392545	0.34253	T	0.806735932826996	0.46817	D	0.967103	0.88824	D	0.18231168	0.39444	0.15348159	0.36065	0.18231168	0.39444	0.15348159	0.36064	-8.816	0.66830	D	.	.	0.139	0.38569	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.063706	0.84412	28.3	0.99859282785423176	0.93820	0.98879	0.88076	D	AEFDGBCI	0.937758	0.93598	D	0.483514615117778	0.66126	4.91013	0.475182317970882	0.66349	4.940624	0.999999995765682	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.09	4.09	0.47038	7.917000	0.86906	7.860000	0.71395	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	12.905	0.57540	964	0.07719	WD40-repeat-containing domain;WD40-repeat-containing domain;.;WD40-repeat-containing domain;WD40-repeat-containing domain;.;WD40-repeat-containing domain;.;WD40-repeat-containing domain;WD40-repeat-containing domain;.;WD40-repeat-containing domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	883.98	43	chr15	70054601	.	T	C	883.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.196e+00;DP=830;ExcessHet=0.0000;FS=1.866;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=-3.200e-02;SOR=0.929	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1384	20	0	1	0
chr15	70055143	70055143	G	A	exonic	TLE3	.	nonsynonymous SNV	TLE3:NM_001282982:exon13:c.C1274T:p.T425M	.	.	413	1102	7	0	0	7	0.00316599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	1.000	D	2.325	M	2.76	T	-1.055	T	0.087	T	0.766	4.437	23.6	4.54	2.352	9.530	16.228	0.506	0.135390114269	0.0028	0.000399361	0.0018	0.0007	0.0004	0	0.0011	0.0030	0	0	0.0018952	293	154602	rs200508723	0.0026	0.0026	0.0027	0.0026	0.0031	0.0025	0.0025	0.0030	0.0030	0.0003	0.0004	0.0053	0	0.0008	0.0009	0.0031	0.0019	0.0001	0.0018	0.0018	0.0021	0.0015	0.0033	0.0016	0.0015	0.0029	0.0028	0.0006	0.0022	0.0004	0.0040	0	0.0002	0.0034	0.0033	0.0009	0.0002	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.435	0.70606	M	2.76	0.11515	T	-5.48	0.87143	D	0.752	0.88909	-1.0550	0.13040	T	0.087	0.33746	T	10	0.026020706	0.00779	T	0.13539	0.81785	D	0.506	0.78724	.	.	0.258436476835	0.25460	0.610731359534636	0.61005	2.58226240517	0.98069	0.759546399117	0.75862	T	0.537369	0.84098	D	-0.237743	0.15638	T	-0.10915	0.62679	T	0.0549272804061324	0.06344	T	0.991751	0.97401	D	0.8164569	0.84982	0.6772003	0.81042	0.8164569	0.84983	0.6772003	0.81043	-12.83	0.89177	D	.	.	0.291	0.67272	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.741089	0.93331	33	0.99924401658090611	0.98980	0.97627	0.76000	D	AEFDGBHCI	0.921336	0.89465	D	0.805390452140767	0.86442	8.886971	0.753910166750058	0.86450	8.892719	0.999999999999603	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.54	4.54	0.55220	9.875000	0.98483	11.784000	0.96188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	16.228	0.82137	964	0.07719	WD40-repeat-containing domain;WD40-repeat-containing domain;.;WD40-repeat-containing domain;WD40-repeat-containing domain;.;WD40-repeat-containing domain;.;WD40-repeat-containing domain;WD40-repeat-containing domain;.;WD40-repeat-containing domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1982.98	39	chr15	70055143	.	G	A	1982.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.632;DP=927;ExcessHet=0.0000;FS=0.625;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=0.376;SOR=0.790	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr15	70666926	70666926	T	G	exonic	UACA	.	nonsynonymous SNV	UACA:NM_001008224:exon16:c.A3719C:p.K1240T	.	.	471	1048	3	0	0	3	0.00142925	.	.	2332563	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	2.19	M	1.37	T	-0.547	T	0.262	T	0.467	3.957	20.2	5.65	2.150	3.777	15.869	0.170	0.0214618556312	0.0004	0.000199681	0.0003	0	0.0010	0	0	0.0003	0.0011	0.0003	0.0002846	44	154602	rs201992560	0.0002	0.0002	0.0002	0.0003	0.0045	0.0002	0.0002	0.0032	0.0027	0.0001	0.0009	0.0007	0	0	0.0045	0.0002	0.0005	0.0003	0.0002	0.0002	0.0002	0.0003	0.0009	0.0002	0.0002	0.0005	0.0004	7.215e-05	0	0.0009	0.0006	0	0	0	0.0002	0.0019	0.0006	0.007	0.61437	D	0.31	0.19972	T	1.0	0.90584	D	0.962	0.77976	D	0.000003	0.62929	D	0.000000	0.999852	0.52396	D	2.455	0.71248	M	0.87	0.46412	T	-2.94	0.66665	D	0.384	0.49146	-0.5473	0.66889	T	0.262	0.63339	T	10	0.077677935	0.12290	T	0.021462	0.44231	T	0.170	0.43303	.	.	0.657831228669	0.65496	0.276158913110639	0.27528	0.278827445462	0.30363	0.443385481834	0.31039	T	0.485916	0.81262	T	-0.309534	0.07790	T	-0.306556	0.44028	T	0.136977359652519	0.16012	T	0.90061	0.65471	D	0.38341534	0.59562	0.30277595	0.56309	0.38341534	0.59563	0.30277595	0.56308	-6.843	0.52878	T	.	.	0.141	0.35034	B	.;.;.;.	.;.;.;.	3.964730	0.58176	23.9	0.99755973861452096	0.84615	0.95273	0.64083	D	AEFDGBCI	0.674249	0.64004	D	0.687173453351296	0.78792	6.94343	0.667096150376396	0.79890	7.178879	0.999999999998095	0.74766	0.67177	0.52595	0	0.588015	0.36545	0	0.659464	0.59346	0	0.711	0.71501	0	.	.	5.65	5.65	0.86881	3.761000	0.54954	4.164000	0.42229	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.869	0.78872	956	0.09877	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	924.98	33	chr15	70666926	.	T	G	924.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.290e-01;DP=909;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.07;ReadPosRankSum=-1.338e+00;SOR=0.714	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1381	20	0	1	0
chr15	70669383	70669383	G	A	exonic	UACA	.	nonsynonymous SNV	UACA:NM_001008224:exon16:c.C1262T:p.T421M	.	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.968	D	0.57	P	0.039	N	1.000	N	1.5	L	1.88	T	-1.040	T	0.098	T	0.217	1.393	10.59	3.71	0.702	1.106	9.611	0.064	0.0330955252907	0.0002	.	0.0002	0	0.0003	0	0	0.0002	0	0.0001	0.0001423	22	154602	rs142769157	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0002	0.0002	5.976e-05	0.0002	0.0002	2.52e-05	1.873e-05	0.0005	0.0002	0.0001	0.0001	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0001	0.0001	0.0011	6.569e-05	0	0	0	0	0.0003	0.0005	0	0.008	0.72154	D	0.016	0.60972	D	0.934	0.56581	P	0.272	0.49854	B	0.038599	0.24268	N	0.351093	1	0.08975	N	1.79	0.46772	L	1.39	0.34841	T	-1.72	0.42191	N	0.174	0.19325	-1.0396	0.17434	T	0.098	0.36625	T	10	0.06083408	0.07535	T	0.033096	0.54740	D	0.064	0.18567	.	.	0.410734915765	0.40690	0.09155677771344256	0.09088	0.293687643121	0.31787	0.355368673801	0.18710	T	0.229169	0.59491	T	-0.384201	0.02930	T	-0.482238	0.24209	T	0.0841191361431017	0.10506	T	0.941006	0.78180	D	0.052755553	0.09887	0.08566859	0.19797	0.052755553	0.09886	0.08566859	0.19796	-4.362	0.29285	T	.	.	0.093	0.13923	B	.;.;.;.;.	.;.;.;.;.	2.785705	0.36605	20.3	0.99683688237867807	0.79440	0.39854	0.26306	N	AEFDGBHI	0.141939	0.26425	N	-0.267206086794292	0.30423	1.696199	-0.387989886368712	0.25354	1.393797	0.999999981955911	0.74766	0.67177	0.52595	0	0.374146	0.05931	1	0.688494	0.62686	0	0.711	0.71501	0	.	.	5.61	3.71	0.41733	1.144000	0.31177	4.418000	0.43305	0.618000	0.50648	0.002000	0.15269	1.000000	0.68203	0.055000	0.15596	0.0747:0.1416:0.7837:0.0	9.611	0.38828	945	0.12563	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1379.98	42	chr15	70669383	.	G	A	1379.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.918;DP=881;ExcessHet=0.0000;FS=1.837;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.68;ReadPosRankSum=-2.009e+00;SOR=1.005	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr15	70671053	70671053	T	C	exonic	UACA	.	nonsynonymous SNV	UACA:NM_001008224:exon15:c.A1168G:p.M390V	.	.	604	904	14	0	0	14	0.00768386	.	.	3216820	UACA-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.37	T	0.0	B	0.001	B	0.531	N	1.000	N	0.41	N	2.0	T	-1.017	T	0.028	T	0.167	0.535	6.899	-7.65	-1.393	-0.375	10.212	0.044	.	0.0028	0.00379393	0.0060	0.0006	0.0039	0.0002	0.0020	0.0060	0.0023	0.0163	0.0053751	831	154602	rs150049035	0.0040	0.0042	0.0035	0.0045	0.0150	0.0039	0.0039	0.0143	0.0140	0.0006	0.0038	0.0105	7.676e-05	0.0020	0.0120	0.0033	0.0052	0.0150	0.0036	0.0036	0.0035	0.0037	0.0162	0.0034	0.0033	0.0133	0.0122	0.0006	0.0044	0.0056	0.0084	0	0.0012	0.0102	0.0045	0.0043	0.0162	0.384	0.13003	T	0.65	0.19073	T	0.0	0.02946	B	0.0	0.04355	B	0.531466	0.05260	N	1.229740	1	0.08975	N	-1.39	0.00611	N	1.51	0.32958	T	0.14	0.05405	N	0.094	0.07535	-1.0172	0.24625	T	0.028	0.11838	T	10	0.0015494525	0.00018	T	.	.	.	0.044	0.11924	.	.	0.104622674875	0.10061	0.12616904721490055	0.12542	0.0878705355583	0.09920	0.275885760784	0.06925	T	0.102601	0.41048	T	-0.620615	0.00109	T	-0.651923	0.08820	T	0.00288576810051717	0.00030	T	0.643236	0.26930	T	0.032945983	0.03418	0.056885745	0.10243	0.032945983	0.03417	0.056885745	0.10243	-3.126	0.11597	T	.	.	0.052	0.00461	B	.;.;.;.;.	.;.;.;.;.	-0.013232	0.04192	1.018	0.78284370114654056	0.12234	0.02355	0.06716	N	AEDGBCI	0.042721	0.06663	N	-1.42152071592821	0.02450	0.1082207	-1.45182744486338	0.02753	0.1272284	0.999999957479853	0.74766	0.706298	0.61202	0	0.61073	0.52368	0	0.709663	0.75317	0	0.636	0.56748	0	.	.	5.25	-7.65	0.01142	-0.483000	0.06616	0.110000	0.14769	-0.349000	0.05595	0.003000	0.16062	0.609000	0.25758	0.984000	0.60418	0.0956:0.6385:0.121:0.1448	10.212	0.42324	953	0.10115	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	698.98	37	chr15	70671053	.	T	C	698.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.070e-01;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=0.230;SOR=0.583	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1234	20	0	1	0
chr15	70833019	70833019	G	A	exonic	LARP6	.	nonsynonymous SNV	LARP6:NM_018357:exon3:c.C509T:p.T170I,	.	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.001	B	0.003	B	0.000	D	1.000	D	-0.125	N	1.02	T	-1.082	T	0.039	T	0.128	2.462	14.19	2.03	1.236	3.289	2.259	0.077	0.00663301832547	0.0022	0.00119808	0.0027	0.0007	0.0004	0	0.0012	0.0034	0.0011	0.0050	0.0027425	424	154602	rs139275643	0.0037	0.0037	0.0037	0.0038	0.0045	0.0037	0.0036	0.0042	0.0041	0.0005	0.0007	0.0016	5.039e-05	0.0011	0.0012	0.0043	0.0031	0.0045	0.0020	0.0020	0.0022	0.0018	0.0039	0.0018	0.0018	0.0030	0.0029	0.0005	0.0088	0.0009	0.0006	0.0002	0.0012	0	0.0034	0	0.0039	0.139	0.25768	T	0.179	0.29540	T	0.001	0.07471	B	0.003	0.08700	B	0.000080	0.52346	D	0.168551	0.618694	0.32685	D	-0.16	0.04340	N	1.02	0.40749	T	0.04	0.06488	N	0.129	0.12341	-1.0824	0.06890	T	0.039	0.16978	T	10	0.0061320066	0.00138	T	0.006633	0.17501	T	0.077	0.22490	.	.	0.0934897674506	0.08844	0.40286894164339615	0.40202	0.505573314302	0.48791	0.489132374525	0.37318	T	0.021892	0.16970	T	-0.553311	0.00279	T	-0.566478	0.15774	T	0.0168105729382757	0.00435	T	0.831017	0.49766	T	0.021235604	0.00716	0.03707758	0.03284	0.021235604	0.00716	0.03707758	0.03284	-3.567	0.17381	T	.	.	0.090	0.12512	B	.	.	2.772199	0.36392	20.2	0.99176555690485957	0.54556	0.84450	0.43532	D	AEFGBI	0.231205	0.35447	N	-0.366084545845896	0.26686	1.458286	-0.163993262476276	0.32872	1.874617	0.999958574653744	0.48110	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.662433	0.64102	0	.	.	5.43	2.03	0.25714	3.318000	0.51686	5.657000	0.49204	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.1011:0.1668:0.4053:0.3268	2.259	0.03814	900	0.24599	La-type HTH domain|La-type HTH domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	6322.08	33	chr15	70833019	.	G	A	6322.08	.	AC=2;AF=0.048;AN=42;DP=1056;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.27;SOR=0.826	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1484	20	1	0	0
chr15	71242660	71242660	G	A	exonic	THSD4	.	nonsynonymous SNV	THSD4:NM_024817:exon4:c.G476A:p.R159H,	.	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.004	B	0.002	B	0.074	N	1.000	N	1.75	L	-0.19	T	-0.919	T	0.227	T	0.233	1.490	10.93	2.64	0.675	0.964	7.858	0.084	0.0187193452693	0.0003	0.000399361	0.0002	0	8.649e-05	0	0	0.0003	0	0.0003	0.0002135	33	154602	rs201535999	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	5.974e-05	4.472e-05	0.0014	2.519e-05	0	0.0003	0.0002	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	0.0001	0.0001	0	0	0.0012	0	0	0	0.0002	0	0.0006	0.004	0.65419	D	0.007	0.69154	D	0.004	0.12183	B	0.002	0.06944	B	0.074380	0.02286	N	1.997550	0.994628	0.23478	N	1.965	0.53209	M	-0.19	0.65931	T	-2.22	0.49846	N	0.315	0.35514	-0.9189	0.45702	T	0.227	0.59246	T	10	0.0182029	0.00394	T	0.018719	0.40875	T	0.084	0.24469	.	.	0.264547087235	0.26054	0.49691611454228674	0.49612	0.20816477634	0.23283	0.512580752373	0.40583	T	0.088023	0.38068	T	-0.312942	0.07491	T	-0.38132	0.35568	T	0.0666987947655846	0.08180	T	0.623338	0.24021	T	0.06528819	0.13939	0.067734	0.14052	0.06528819	0.13939	0.067734	0.14051	-4.204	0.26809	T	.	.	0.082	0.08560	B	.	.	2.165028	0.27584	17.51	0.99434454267005534	0.64423	0.21192	0.21314	N	AEFBI	0.084767	0.17181	N	-0.520520912272591	0.21418	1.136463	-0.490170525246007	0.22423	1.217838	0.900327269587957	0.26073	0.615465	0.37627	0	0.624306	0.53593	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.62	2.64	0.30504	1.017000	0.29591	2.669000	0.33934	0.676000	0.76740	0.029000	0.20367	0.988000	0.31051	0.153000	0.20410	0.2839:0.0:0.7161:0.0	7.858	0.28655	719	0.55657	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1688.98	35	chr15	71242660	.	G	A	1688.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.29;DP=816;ExcessHet=0.0000;FS=3.535;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=0.196;SOR=1.090	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr15	71737961	71737961	C	G	exonic	THSD4	.	nonsynonymous SNV	THSD4:NM_001286429:exon5:c.C780G:p.N260K	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	1.0	D	0.996	D	.	.	1.000	D	1.245	L	0.45	T	-0.791	T	0.242	T	0.313	3.492	17.86	2.84	1.214	4.273	8.617	0.201	0.0199889793541	.	.	1.669e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs769956305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.97e-05	1.97e-05	3.853e-05	0	7.235e-05	5.24e-06	2.45e-06	1.918e-05	1.032e-05	7.235e-05	0	0	0	0	0	0	0	0	0	0.273	0.15876	T	0.281	0.21745	T	0.959	0.55135	D	0.643	0.52216	P	.	.	.	.	0.999993	0.58761	D	1.65	0.42232	L	0.16	0.60610	T	-1.07	0.27876	N	0.893	0.89577	-0.7914	0.55648	T	0.242	0.61012	T	9	0.5530514	0.64364	D	0.019989	0.42488	T	0.201	0.48592	0.366	0.37361	0.56265594507	0.55928	0.5138769750314345	0.51309	0.193357801242	0.21667	0.699511885643	0.67073	T	0.030742	0.21720	T	-0.225263	0.17281	T	-0.324683	0.42059	T	0.21309600620813	0.21114	T	0.864413	0.56163	D	0.1418258	0.32664	0.09851714	0.23490	0.1418258	0.32663	0.09851714	0.23489	-10.983	0.84754	D	.	.	0.755	0.75291	P	.;.	.;.	4.159025	0.62440	24.5	0.99725907669812386	0.82406	0.97364	0.74282	D	AEFGBI	0.636368	0.61554	D	0.305193647899592	0.56414	3.806145	0.297669671546253	0.55402	3.703384	0.999965680756011	0.48965	0.752111	0.98806	0	0.563428	0.19063	0	0.658983	0.55881	0	0.503917	0.08554	0	.	.	4.8	2.84	0.32241	4.336000	0.59087	1.763000	0.28569	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.7576:0.1542:0.0882	8.617	0.32999	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2534.98	33	chr15	71737961	.	C	G	2534.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.779;DP=951;ExcessHet=0.0000;FS=1.011;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.30;ReadPosRankSum=0.349;SOR=0.796	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1115	20	0	1	0
chr15	71771147	71771147	C	A	exonic	THSD4	.	nonsynonymous SNV	THSD4:NM_001286429:exon11:c.C1773A:p.D591E	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.998	D	0.936	D	.	.	0.957	D	1.435	L	0.81	T	-0.845	T	0.158	T	0.217	2.439	14.11	4.12	2.353	0.170	8.327	0.112	0.0113781897417	.	.	6.625e-05	0	0	0	0	0	0	0.0005	5.17e-05	8	154602	rs751891282	3.762e-05	3.762e-05	2.45e-05	5.088e-05	0.0006	2.959e-05	2.655e-05	0.0005	0.0004	0	0	0	2.519e-05	0	0	1.799e-06	1.656e-05	0.0006	3.286e-05	3.284e-05	0	6.726e-05	0.0010	1.261e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.218	0.19090	T	0.15	0.38596	T	0.998	0.73220	D	0.936	0.67150	D	.	.	.	.	0.957346	0.38019	D	2.115	0.58683	M	0.81	0.48460	T	-1.33	0.33197	N	0.248	0.28264	-0.8446	0.52338	T	0.158	0.49145	T	9	0.11749232	0.22189	T	0.011378	0.28946	T	0.112	0.31546	0.149	0.05238	0.33440975612	0.33058	0.33434118944225466	0.33347	0.408431882376	0.41683	0.558098375797	0.46999	T	0.026212	0.19446	T	-0.429675	0.01489	T	-0.498598	0.22493	T	0.32132488489151	0.25876	T	0.715028	0.33695	T	0.07280718	0.16224	0.1249809	0.30119	0.07280718	0.16224	0.1249809	0.30119	-6.395	0.51425	T	.	.	0.155	0.34361	B	.;.	.;.	3.150710	0.42647	21.6	0.99516403169361622	0.68979	0.66994	0.33273	D	AEFBI	0.345222	0.44045	N	0.143314900480539	0.48496	3.061145	0.138186097655262	0.46520	2.896609	0.165718799448745	0.17661	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.05	4.12	0.47504	0.265000	0.18282	2.593000	0.33479	0.599000	0.40250	0.898000	0.31380	1.000000	0.68203	0.998000	0.85391	0.0:0.8183:0.0:0.1817	8.327	0.31326	937	0.14592	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1454.98	33	chr15	71771147	.	C	A	1454.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.295e+00;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=-1.690e-01;SOR=0.639	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1284	20	0	1	0
chr15	71898076	71898076	G	C	exonic	MYO9A	.	nonsynonymous SNV	MYO9A:NM_006901:exon25:c.C4427G:p.P1476R,	.	.	433	1033	53	3	0	59	0.0277647	.	.	703311	MYO9A-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.06	T	0.571	P	0.206	B	.	.	1.000	N	0.345	N	-1.79	D	-0.773	T	0.202	T	0.316	0.703	7.752	3.0	0.810	3.124	6.833	0.138	.	0.0010	0.00898562	0.0044	0.0007	0.0011	0.0251	0	0.0011	0.0099	0.0130	0.0041138	636	154602	rs16956375	0.0024	0.0024	0.0020	0.0029	0.0274	0.0024	0.0024	0.0260	0.0255	0.0005	0.0008	0.0050	0.0274	1.873e-05	0.0210	0.0006	0.0053	0.0141	0.0021	0.0021	0.0019	0.0025	0.0257	0.0020	0.0019	0.0222	0.0208	0.0006	0	0.0008	0.0055	0.0257	0	0.0306	0.0007	0.0057	0.0141	0.005	0.63226	D	0.408	0.39340	T	0.047	0.21998	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	-1.8	0.88767	D	-1.18	0.35597	N	0.1	0.11197	-0.7727	0.56709	T	0.202	0.55905	T	9	0.0030557215	0.00050	T	.	.	.	0.138	0.37187	.	.	0.158540857583	0.15491	0.26733313974931155	0.26646	0.106403839219	0.12028	0.22201526165	0.01430	T	0.016766	0.16317	T	-0.293858	0.09253	T	-0.175286	0.56958	T	0.0199499117669396	0.00696	T	0.768923	0.39853	T	0.060669936	0.12478	0.07894072	0.17728	0.036071613	0.04368	0.07383594	0.16088	-4.414	0.29746	T	.	.	0.092	0.23395	B	.;.;.;.	.;.;.;.	2.036404	0.25887	16.92	0.96495594025505538	0.30023	0.65211	0.32661	D	AEFGBI	0.135683	0.25610	N	-0.518906691549729	0.21468	1.13958	-0.464498217533983	0.23139	1.260332	0.514245987980211	0.21043	0.706548	0.73137	0	0.653731	0.59785	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.92	3.0	0.33773	4.144000	0.57825	5.633000	0.49123	0.676000	0.76740	0.861000	0.30630	1.000000	0.68203	0.964000	0.52637	0.2055:0.1305:0.6639:0.0	6.833	0.23103	921	0.19240	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2044.98	33	chr15	71898076	.	G	C	2044.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.951e+00;DP=855;ExcessHet=0.0000;FS=1.244;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=-1.125e+00;SOR=0.597	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1306	20	0	1	0
chr15	72345476	72345476	C	T	exonic	HEXA	.	nonsynonymous SNV	HEXA:NM_000520:exon13:c.G1496A:p.R499H	GM2-gangliosidosis, several forms, Autosomal recessive;Tay-Sachs disease, Autosomal recessive	YES	0	1518	4	0	0	4	0.00131579	.	.	18938	Gm2-gangliosidosis,_juvenile|Tay-Sachs_disease|not_provided|Inborn_genetic_diseases	MedGen:C0268276|MONDO:MONDO:0010100,MedGen:C0039373,OMIM:272800,Orphanet:845|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	A	3.52	H	-4.53	D	1.086	D	0.971	D	0.978	5.220	33	5.71	2.709	4.215	19.868	0.892	0.250417958122	.	.	7.415e-05	0	0	0	0	2.997e-05	0	0.0004	5.82e-05	9	154602	rs121907956	7.183e-05	7.182e-05	6.534e-05	7.838e-05	0.0004	6.047e-05	5.595e-05	0.0003	0.0003	0	0	0	0	0	0.0002	6.205e-05	1.656e-05	0.0004	3.284e-05	3.283e-05	6.422e-05	0	5.879e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	2.411e-05	0	0	0	0	0	0	5.879e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	A	3.705	0.94653	H	-4.53	0.97713	D	-4.64	0.79316	D	0.981	0.99670	1.086	0.99097	D	0.971	0.99102	D	9	0.9543921	0.94791	D	0.250418	0.89090	D	0.892	0.96910	.	.	0.994230711063	0.99416	0.9696749151766246	0.96955	0.838673171438	0.67938	0.494319111109	0.38038	T	0.962685	0.99531	D	0.36715	0.87805	D	0.594157	0.96934	D	0.992381036281586	0.82850	D	0.90121	0.65680	D	0.8408219	0.86667	0.6666385	0.80451	0.83979577	0.86595	0.6963891	0.82123	-10.643	0.77665	D	0.8586115139022448	0.92272	0.785	0.76596	P	.;.;.	.;.;.	4.934956	0.81390	27.5	0.99868851275574999	0.94637	0.98812	0.87175	D	AEFBI	0.797319	0.72419	D	0.637878631067833	0.75587	6.332277	0.472149093174774	0.66149	4.914913	0.999999999982387	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.71	5.71	0.89031	7.557000	0.81197	7.698000	0.66136	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.135000	0.19760	0.0:1.0:0.0:0.0	19.868	0.96822	201	0.92177	.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2873.98	34	chr15	72345476	.	C	T	2873.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=1316;ExcessHet=0.0000;FS=2.063;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.72;ReadPosRankSum=0.036;SOR=0.565	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr15	72345537	72345537	C	T	exonic	HEXA	.	nonsynonymous SNV	HEXA:NM_000520:exon13:c.G1435A:p.A479T	GM2-gangliosidosis, several forms, Autosomal recessive;Tay-Sachs disease, Autosomal recessive	YES	1	1514	7	0	0	7	0.00230643	.	.	271317	not_provided|not_specified|Tay-Sachs_disease	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010100,MedGen:C0039373,OMIM:272800,Orphanet:845	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.996	D	0.981	D	0.000	D	1.000	D	4.1	H	-4.49	D	0.899	D	0.966	D	0.824	5.431	35	5.56	2.632	7.454	19.526	0.911	.	0.0005	0.00279553	0.0009	0.0006	8.715e-05	0.0091	0	7.517e-05	0.0011	0.0010	0.0008732	135	154602	rs145012038	0.0004	0.0004	0.0003	0.0005	0.0073	0.0004	0.0004	0.0066	0.0063	0.0001	4.472e-05	0	0.0073	0	0.0009	4.317e-05	0.0018	0.0015	0.0006	0.0006	0.0004	0.0007	0.0093	0.0005	0.0004	0.0072	0.0064	0.0003	0	6.533e-05	0	0.0093	0	0	8.818e-05	0.0028	0.0019	0.001	0.78490	D	0.029	0.54934	D	0.994	0.66517	D	0.909	0.64565	D	0.000003	0.62929	D	0.059591	1	0.81001	D	3.915	0.96218	H	-4.49	0.97628	D	-3.68	0.70314	D	0.75	0.75466	0.899	0.95659	D	0.966	0.98924	D	10	0.015963972	0.00335	T	.	.	.	0.911	0.97624	.	.	0.994792947779	0.99473	0.9593219065512474	0.95918	0.709207124474	0.61595	0.460467576981	0.33375	T	0.977385	0.99791	D	0.136687	0.68008	D	0.43296	0.93132	D	0.162026577394249	0.18020	T	0.975502	0.91380	D	0.7533883	0.81065	0.8311962	0.90262	0.8985642	0.91256	0.80602276	0.88649	-8.323	0.63250	D	0.6591750290042737	0.73240	0.393	0.59171	A	.;.;.	.;.;.	4.671647	0.74675	26.2	0.9993173088697902	0.99387	0.99755	0.99226	D	AEFGBI	0.930107	0.91691	D	1.03032789632224	0.96603	14.90106	0.940688147767042	0.97114	15.61088	0.999999999990603	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.56	5.56	0.83678	7.557000	0.81197	7.697000	0.66086	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	19.526	0.95201	201	0.92177	Glycoside hydrolase family 20, catalytic domain;Glycoside hydrolase family 20, catalytic domain;Glycoside hydrolase family 20, catalytic domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2224.98	34	chr15	72345537	.	C	T	2224.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.280e+00;DP=1100;ExcessHet=0.0000;FS=0.574;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=0.871;SOR=0.754	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr15	72474694	72474696	GAG	-	exonic	ARIH1	.	nonframeshift deletion	ARIH1:NM_005744:exon1:c.55_57del:p.E20del,	.	.	4	1509	8	1	0	10	0.00330251	.	.	1564042	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00199681	0.0018	0.0002	0.0004	0	0	8.771e-05	0.0020	0.0094	0.0003842	10	26028	rs534030629	0.0005	0.0005	0.0003	0.0007	0.0071	0.0004	0.0004	0.0067	0.0065	3.342e-05	0.0001	0	5.758e-05	1.916e-05	0.0005	4.119e-05	0.0004	0.0071	0.0002	0.0002	0.0001	0.0003	0.0056	0.0002	0.0001	0.0040	0.0034	0	0	6.564e-05	0	0	0	0	4.426e-05	0.0005	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1856.94	33	chr15	72474693	.	TGAG	T	1856.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.220e-01;DP=786;ExcessHet=0.0000;FS=2.713;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.97;ReadPosRankSum=1.99;SOR=0.602	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1132	20	0	1	0
chr15	72661342	72661342	G	A	exonic	GOLGA6B	.	nonsynonymous SNV	GOLGA6B:NM_018652:exon8:c.G643A:p.V215M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.01	B	0.002	B	.	.	1.000	N	1.07	L	1.97	T	-1.010	T	0.032	T	0.343	-0.590	1.357	0.39	0.472	-0.117	3.425	0.054	0.00161308893799	.	.	5.217e-05	0.0001	0	0.0002	0	3.188e-05	0	6.078e-05	3.84e-05	1	26028	rs773053523	5.617e-05	8.824e-05	6.134e-05	5.094e-05	0.0002	4.616e-05	4.242e-05	7.127e-05	5.484e-05	5.981e-05	2.236e-05	0	5.039e-05	1.92e-05	0.0002	5.666e-05	1.657e-05	0.0001	6.575e-05	9.843e-05	7.72e-05	5.379e-05	0.0004	3.519e-05	2.618e-05	6.816e-05	2.853e-05	7.25e-05	0	0.0001	0	0.0004	0	0	2.941e-05	0	0.0002	0.183	0.21718	T	0.194	0.28120	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	0.999744	0.20516	N	0.64	0.16041	N	1.97	0.22067	T	-0.53	0.16393	N	0.248	0.28028	-1.0095	0.27074	T	0.032	0.13811	T	9	0.037614614	0.02127	T	0.001613	0.02600	T	0.054	0.15330	0.185	0.09388	0.0401082797425	0.02173	0.11380420062270966	0.11308	.	.	0.861310660839	0.91304	D	0.003594	0.03000	T	-0.411734	0.01935	T	-0.569525	0.15494	T	0.04003503688079	0.03696	T	0.671933	0.28057	T	0.024315586	0.01252	0.035364285	0.02775	0.024315586	0.01251	0.035364285	0.02775	-4.389	0.29408	T	.	.	0.199	0.42259	B	.	.	0.701809	0.10706	7.399	0.77749846855300953	0.12006	0.00530	0.02456	N	AEFI	0.034736	0.04355	N	-1.10179631500486	0.06611	0.3048343	-1.22429112110196	0.05522	0.2633247	6.26686191044207E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.39	0.39	0.15500	-0.175000	0.09816	0.876000	0.22354	0.295000	0.18837	0.002000	0.15269	0.250000	0.23912	0.001000	0.02609	1.0E-4:1.0E-4:0.5495:0.4504	3.425	0.06981	431	0.80762	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	754.99	39	chr15	72661342	.	G	A	754.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.840e-01;DP=923;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0252;MLEAC=1;MLEAF=0.024;MQ=38.93;MQRankSum=0.359;QD=4.24;ReadPosRankSum=-6.190e-01;SOR=0.719	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,117,1755	20	0	1	0
chr15	72664955	72664955	C	G	exonic	GOLGA6B	.	nonsynonymous SNV	GOLGA6B:NM_018652:exon14:c.C1513G:p.Q505E,	.	.	499	1014	9	0	0	9	0.00441826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-1.265	N	2.29	T	-0.972	T	0.009	T	0.067	-2.194	0.005	0.39	-0.771	-1.109	.	0.018	0.00110618399991	.	.	0.0029	0.0013	0.0005	0.0033	0.0017	0.0024	0	0.0080	3.84e-05	1	26028	rs760657905	0.0031	0.0055	0.0031	0.0031	0.0036	0.0030	0.0029	0.0034	0.0034	0.0018	0.0011	0.0005	0.0021	0.0015	0.0034	0.0036	0.0026	0.0027	0.0021	0.0034	0.0024	0.0017	0.0035	0.0018	0.0017	0.0029	0.0027	0.0014	0	0.0006	0.0007	0	0.0012	0	0.0035	0.0011	0.0026	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.11	0.00152	N	2.29	0.17113	T	1.23	0.01037	N	0.065	0.03726	-0.9723	0.36712	T	0.009	0.03359	T	8	0.004661739	0.00098	T	0.001106	0.01312	T	0.018	0.03083	.	.	0.0138822411134	0.00435	0.022594273954294433	0.02211	.	.	0.604803681374	0.53583	T	5.32E-4	0.00207	T	-0.393701	0.02546	T	-0.8033	0.01821	T	0.00317799761379924	0.00033	T	0.20228	0.02325	T	0.07796646	0.17727	0.085779615	0.19830	0.07796646	0.17726	0.085779615	0.19829	-2.832	0.08482	T	.	.	0.054	0.00354	B	.	.	-0.175014	0.03221	0.538	0.45289891730091059	0.03544	0.00042	0.00346	N	AEFI	0.011000	0.00089	N	-1.92559588169967	0.00304	0.01305553	-1.90918336414759	0.00470	0.0207906	6.87455579199866E-5	0.04366	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.39	0.39	0.15500	-0.008000	0.12724	-0.024000	0.12886	-0.916000	0.02226	0.022000	0.19841	0.000000	0.08366	0.002000	0.04165	.	.	.	431	0.80762	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02778	104.2	34	chr15	72664955	.	C	G	104.2	.	AC=1;AF=0.028;AN=36;BaseQRankSum=1.28;DP=276;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0435;MLEAC=1;MLEAF=0.028;MQ=30.63;MQRankSum=-5.240e-01;QD=20.84;ReadPosRankSum=-2.530e-01;SOR=1.981	GT:AD:DP:GQ:PL	0/0:25,0:25:72:0,72,862	17	0	1	3
chr15	72735954	72735954	A	T	exonic	BBS4	.	nonsynonymous SNV	BBS4:NM_001252678:exon13:c.A720T:p.E240D	Bardet-Biedl syndrome 4, Autosomal recessive	YES	0	1493	28	1	0	30	0.00994695	.	.	255356	Bardet-Biedl_syndrome|not_specified|Bardet-Biedl_syndrome_4|not_provided	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MedGen:CN169374|MONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982,Orphanet:110|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.47	T	0.002	B	0.004	B	0.000	D	0.886	D	0.17	N	-0.17	T	-1.109	T	0.076	T	0.283	0.661	7.544	-1.56	-0.139	-0.680	0.986	0.118	.	0.0010	0.00219649	0.0017	9.612e-05	0.0011	0	0.0002	0.0011	0	0.0071	0.0015977	247	154602	rs147202164	0.0012	0.0012	0.0010	0.0014	0.0080	0.0012	0.0012	0.0068	0.0066	0.0002	0.0011	0.0002	0	0.0003	0.0080	0.0009	0.0014	0.0073	0.0009	0.0009	0.0008	0.0010	0.0081	0.0008	0.0007	0.0061	0.0054	0.0002	0	0.0013	0.0006	0	0.0002	0.0137	0.0008	0.0009	0.0081	0.631	0.05137	T	0.608	0.12316	T	0.0	0.02946	B	0.002	0.06944	B	0.000051	0.53742	D	0.165515	0.851858	0.35848	D	0.94	0.23649	L	-0.17	0.65563	T	-0.26	0.11185	N	0.193	0.21188	-1.1085	0.03201	T	0.076	0.30522	T	10	0.0062256753	0.00140	T	.	.	.	0.118	0.32913	0.536	0.64585	0.467585353272	0.46384	0.12365382285431516	0.12291	0.0123763208072	0.01177	0.421674877405	0.28067	T	0.15607	0.49808	T	-0.453691	0.01074	T	-0.420747	0.30989	T	0.00809032004326582	0.00096	T	0.763624	0.39028	T	0.065803885	0.14100	0.03444925	0.02514	0.067963764	0.14765	0.027452525	0.00899	-4.176	0.32571	T	.	.	0.074	0.05060	B	.;.	.;.	0.535059	0.09040	5.820	0.84337932865170284	0.15233	0.18627	0.20337	N	AEFBI	0.080972	0.16379	N	-0.964398092015882	0.09372	0.4432894	-0.895571225133823	0.12198	0.6260898	0.993373274759456	0.33190	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.68	-1.56	0.08080	-0.645000	0.05506	-0.595000	0.08301	0.756000	0.94297	0.133000	0.23395	0.000000	0.08366	0.917000	0.45243	0.2643:0.2158:0.3251:0.1949	0.986	0.01356	409	0.82198	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	839.98	33	chr15	72735954	.	A	T	839.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=763;ExcessHet=0.0000;FS=1.978;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=-4.690e-01;SOR=0.456	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr15	73260364	73260364	T	C	exonic	NEO1	.	nonsynonymous SNV	NEO1:NM_001172623:exon15:c.T2297C:p.I766T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.893	P	0.882	P	0.000	D	1.000	D	0.885	L	2.02	T	-1.106	T	0.083	T	0.863	4.490	24.1	5.2	2.096	6.253	15.371	0.329	0.0105684272862	.	.	1.649e-05	0	0	0	0	1.5e-05	0	6.056e-05	1.94e-05	3	154602	rs200286275	1.847e-05	1.847e-05	1.906e-05	1.788e-05	3.478e-05	1.265e-05	1.084e-05	1.213e-05	1.03e-05	0	0	0	0	0	0	1.889e-05	4.968e-05	3.478e-05	1.972e-05	1.97e-05	1.285e-05	2.691e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.025	0.47320	D	0.089	0.40426	T	0.579	0.38789	P	0.814	0.58796	P	0.000000	0.84330	D	0.047705	1	0.81001	D	1.04	0.26193	L	2.02	0.21119	T	-3.86	0.72471	D	0.475	0.55799	-1.1057	0.03467	T	0.083	0.32556	T	10	0.5856902	0.66097	D	0.010568	0.27259	T	0.329	0.65126	0.537	0.64730	0.382607109125	0.37878	0.4518500324431801	0.45103	0.275615061522	0.30037	0.831962585449	0.86864	D	0.418726	0.77098	T	0.0268761	0.55306	T	-0.0176429	0.69183	D	0.66841846704483	0.39267	D	0.974903	0.91709	D	0.43603823	0.63147	0.38064152	0.63092	0.43603823	0.63147	0.38064152	0.63092	-5.103	0.39784	T	.	.	0.355	0.59381	A	.;.;.;.;.	.;.;.;.;.	3.722239	0.53200	23.3	0.99850027860766932	0.92925	0.97008	0.72158	D	AEFGBI	0.783156	0.71422	D	0.416933984709269	0.62354	4.449845	0.483575092644581	0.66900	5.012895	0.99999584788355	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	5.2	5.2	0.71720	6.210000	0.72114	5.076000	0.47223	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	15.371	0.74284	675	0.60470	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1718.98	33	chr15	73260364	.	T	C	1718.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.742;DP=838;ExcessHet=0.0000;FS=1.354;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=-7.570e-01;SOR=0.550	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1295	20	0	1	0
chr15	73283089	73283089	C	T	exonic	NEO1	.	nonsynonymous SNV	NEO1:NM_001172624:exon22:c.C3355T:p.R1119C	.	.	422	1086	13	1	0	15	0.00685871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	1.665	L	0.1	T	-0.655	T	0.093	T	0.869	4.816	27.3	5.3	2.644	7.247	19.333	0.495	.	0.0012	0.0117812	0.0058	0.0008	0.0027	0.0425	0.0080	0.0029	0.0099	0.0022	0.0054527	843	154602	rs118087147	0.0038	0.0038	0.0038	0.0038	0.0447	0.0037	0.0037	0.0430	0.0423	0.0007	0.0036	0.0058	0.0447	0.0084	0.0172	0.0020	0.0074	0.0027	0.0048	0.0048	0.0043	0.0052	0.0492	0.0045	0.0044	0.0443	0.0424	0.0013	0	0.0057	0.0046	0.0492	0.0109	0.0136	0.0025	0.0071	0.0023	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.095	0.58118	M	0.1	0.63077	T	-5.73	0.89334	D	0.783	0.83781	-0.6548	0.62504	T	0.093	0.35283	T	10	0.007161528	0.00163	T	.	.	.	0.495	0.78036	.	.	0.589392501938	0.58614	0.5518740546356979	0.55113	0.865989731613	0.69205	0.706761300564	0.68123	T	0.760	0.93477	D	-0.037222	0.46360	T	0.205173	0.83407	D	0.0469657027440284	0.04958	T	0.990763	0.97171	D	0.71883744	0.79097	0.53594667	0.73184	0.71883744	0.79098	0.53594667	0.73185	-11.548	0.83197	D	.	.	0.478	0.69452	A	.;.;.;.;.	.;.;.;.;.	4.829910	0.78746	27.0	0.99942508714113965	0.99824	0.94842	0.62518	D	AEFBHCI	0.934120	0.92702	D	0.742588192925991	0.82422	7.758413	0.73252353166188	0.84845	8.407764	0.999999999999965	0.74766	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	5.3	5.3	0.74745	7.304000	0.78201	7.708000	0.66649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.836000	0.39433	0.0:1.0:0.0:0.0	19.333	0.94287	680	0.59965	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1409.98	33	chr15	73283089	.	C	T	1409.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.56;DP=793;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=1.01;SOR=0.620	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1213	20	0	1	0
chr15	73443250	73443250	C	T	exonic	REC114	.	nonsynonymous SNV	REC114:NM_001042367:exon1:c.C65T:p.P22L	.	.	.	.	.	.	.	.	.	.	.	3465203	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.979	D	0.728	P	0.030	N	0.987	D	1.7	L	0.96	T	-0.853	T	0.149	T	0.53	2.575	14.57	3.45	2.220	2.886	10.680	0.185	0.0199276144209	0.0002	0.000199681	7.637e-05	0	0	0	0	0.0002	0	0	7.12e-05	11	154602	rs371048409	9.218e-05	9.303e-05	8.915e-05	9.528e-05	0.0001	7.909e-05	7.44e-05	9.368e-05	8.766e-05	0	0.0001	0	0	0	0	0.0001	0.0001	0	5.252e-05	5.249e-05	6.423e-05	4.028e-05	8.821e-05	2.555e-05	1.829e-05	3.762e-05	2.575e-05	0	0	6.531e-05	0	0	0	0	8.821e-05	0.0005	0	0.01	0.63226	D	0.009	0.67890	D	0.979	0.59044	D	0.728	0.55195	P	0.030381	0.25314	N	0.402465	0.986563	0.40452	D	2.045	0.56016	M	0.96	0.42888	T	-5.85	0.88495	D	0.617	0.66529	-0.8530	0.51760	T	0.149	0.47593	T	10	0.488358	0.60843	T	0.019928	0.42414	T	0.185	0.45933	.	.	0.53819168318	0.53471	0.4620418235680954	0.46122	0.527645820895	0.50370	.	.	.	0.158748	0.50190	T	-0.248271	0.14311	T	-0.357732	0.38315	T	0.506255567073822	0.32859	D	0.818618	0.47570	T	0.17683075	0.38617	0.25478056	0.51149	0.17683075	0.38617	0.25478056	0.51148	-2.604	0.06534	T	.	.	0.21	0.52760	B	.;.	.;.	3.391174	0.46957	22.4	0.99853481665171173	0.93279	0.69984	0.34405	D	AEFBCI	0.173820	0.30092	N	0.301502126634863	0.56226	3.786956	0.216388840287933	0.50755	3.264366	0.00120948267392127	0.08334	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	3.45	3.45	0.38602	2.897000	0.48363	2.685000	0.34045	0.599000	0.40250	0.996000	0.39380	0.993000	0.31925	0.491000	0.28814	0.0:1.0:0.0:0.0	10.680	0.45002	593	0.68665	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	972.98	38	chr15	73443250	.	C	T	972.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.66;DP=760;ExcessHet=0.0000;FS=0.958;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.52;ReadPosRankSum=-1.722e+00;SOR=0.896	GT:AD:DP:GQ:PL	0/1:29,38:67:99:987,0,530	20	0	1	0
chr15	73704421	73704421	G	C	exonic	CD276	.	nonsynonymous SNV	CD276:NM_001329628:exon4:c.G664C:p.V222L	.	.	417	1104	1	0	0	1	0.000452694	.	.	2287966	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.357	B	0.204	B	0.001	N	0.994	D	2.175	M	1.59	T	-0.990	T	0.097	T	0.517	2.208	13.34	4.32	1.952	3.295	14.585	0.142	0.0128482312187	.	.	.	.	.	.	.	.	.	.	.	.	.	rs767540312	6.842e-06	6.84e-06	4.084e-06	9.627e-06	0.0002	3.46e-06	2.52e-06	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.698e-06	9.935e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392	0.36509	T	0.132	0.34477	T	0.098	0.33788	B	0.174	0.37039	B	0.001087	0.40303	N	0.222685	0.994418	0.42273	D	1	0.25136	L	1.59	0.28836	T	-0.88	0.29525	N	0.43	0.46928	-0.9902	0.32551	T	0.097	0.36393	T	10	0.28934377	0.46515	T	0.012848	0.31779	T	0.142	0.37995	0.725	0.85937	0.215869574891	0.21205	0.4037020066022195	0.40286	0.191367977959	0.21462	0.707031667233	0.68163	T	0.101	0.40695	T	-0.0967778	0.36958	T	-0.376791	0.36096	T	0.283476546854088	0.24317	T	0.911409	0.80370	D	0.12450238	0.29209	0.12032994	0.29040	0.12450238	0.29209	0.12032994	0.29039	-7.77	0.59561	D	.	.	0.256	0.50545	B	.;.;.;.;.	.;.;.;.;.	3.251617	0.44434	21.9	0.98931734854829845	0.48769	0.80343	0.40006	D	AEFGBCI	0.486685	0.52575	N	0.0805872796467599	0.45557	2.810311	0.160749792000336	0.47716	2.99755	0.999996151021929	0.74766	0.706548	0.73137	0	0.071	0.01855	3	0.554053	0.18673	1	0.714379	0.83352	0	.	.	4.32	4.32	0.50899	3.454000	0.52750	11.725000	0.94886	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	14.585	0.67909	800	0.44535	Immunoglobulin-like domain|Immunoglobulin C1-set|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin C1-set|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2067.98	135	chr15	73704421	.	G	C	2067.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.010e-01;DP=848;ExcessHet=0.0000;FS=4.155;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.80;MQRankSum=1.19;QD=15.32;ReadPosRankSum=-4.280e-01;SOR=0.611	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1298	20	0	1	0
chr15	73927562	73927562	-	GCC	exonic	LOXL1	.	nonframeshift insertion	LOXL1:NM_005576:exon1:c.779_780insGCC:p.P267_D268insP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0158	0.0104	0.0208	0	.	0.0085	0.0175	0.0187	0.0005763	15	26028	rs776481735	0.0045	0.0035	0.0041	0.0050	0.0200	0.0044	0.0044	0.0192	0.0188	0.0017	0.0024	0.0148	0.0005	0.0075	0.0079	0.0032	0.0056	0.0200	0.0031	0.0031	0.0030	0.0031	0.0238	0.0028	0.0027	0.0199	0.0184	0.0017	0.0011	0.0017	0.0059	0.0012	0.0029	0.0070	0.0029	0.0044	0.0238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	994.69	87	chr15	73927562	.	T	TGCC	994.69	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.18;DP=1736;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0507;MLEAC=1;MLEAF=0.026;MQ=60.00;MQRankSum=0.00;QD=15.07;ReadPosRankSum=-6.520e-01;SOR=0.789	GT:AD:DP:GQ:PL	0/0:84,0:84:99:0,120,2194	18	0	1	2
chr15	74070929	74070929	G	-	exonic	GOLGA6A	.	frameshift deletion	GOLGA6A:NM_001038640:exon18:c.2063delC:p.P688Lfs*30,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	4.788e-06	0	1.377e-06	2.52e-05	0	0	.	.	0	0	0	2.52e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	700.94	39	chr15	74070928	.	AG	A	700.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.500e-01;DP=1031;ExcessHet=0.0000;FS=2.780;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.11;MQRankSum=0.468;QD=5.84;ReadPosRankSum=-5.920e-01;SOR=0.993	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	20	0	1	0
chr15	74070962	74070962	T	A	exonic	GOLGA6A	.	nonsynonymous SNV	GOLGA6A:NM_001038640:exon18:c.A2030T:p.N677I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.992	D	.	.	0.976	N	2.63	M	1.72	T	-1.021	T	0.153	T	0.347	2.324	13.73	1.62	1.007	4.577	7.306	0.112	0.00700416882332	.	.	.	.	.	.	.	.	.	.	.	.	.	rs554734828	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.571e-06	2.626e-05	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.992	0.80445	D	.	.	.	.	0.976208	0.25388	N	3.505	0.92816	H	1.72	0.26588	T	-5.48	0.85692	D	0.372	0.41360	-1.0214	0.23259	T	0.153	0.48205	T	9	0.42459726	0.57089	T	0.007004	0.18541	T	0.112	0.31546	0.236	0.16608	0.192905019026	0.18896	0.26728134688869504	0.26641	3.3389385424	0.99635	0.691444575787	0.65914	T	0.220432	0.58372	T	-0.0700956	0.41310	T	-0.338464	0.40519	T	0.973400175571442	0.70079	D	0.859714	0.55187	D	0.5434677	0.69591	0.5021394	0.71220	0.5434677	0.69592	0.5021394	0.71220	-2.96	0.09757	T	.	.	0.144	0.31608	B	.	.	3.073444	0.41320	21.3	0.98371745034392233	0.40760	0.89977	0.50804	D	AEFI	0.455761	0.50791	N	0.196701080937815	0.51039	3.288592	-0.0385231778782328	0.37992	2.232017	3.03454332973231E-4	0.06454	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	1.62	1.62	0.22817	4.804000	0.62246	2.354000	0.32331	0.238000	0.18221	1.000000	0.71638	1.000000	0.68203	0.009000	0.08673	0.0:0.0:0.0:1.0	7.306	0.25624	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	880.98	39	chr15	74070962	.	T	A	880.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.122;DP=1090;ExcessHet=0.0000;FS=1.993;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=49.80;MQRankSum=-1.206e+00;QD=4.16;ReadPosRankSum=-6.620e-01;SOR=0.663	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	20	0	1	0
chr15	74072258	74072258	G	A	exonic	GOLGA6A	.	nonsynonymous SNV	GOLGA6A:NM_001038640:exon14:c.C1553T:p.T518M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.021	B	0.006	B	.	.	1.000	N	-2.35	N	1.97	T	-0.972	T	0.009	T	0.057	-2.677	0	-3.08	-0.857	0.207	1.000	0.027	0.00168270126752	.	.	0.0017	0.0035	0.0092	0.0051	0	0.0001	0.0023	0.0010	3.84e-05	1	26028	rs752731361	0.0004	0.0018	0.0004	0.0003	0.0071	0.0004	0.0003	0.0064	0.0062	0.0011	0.0048	0	0.0071	0	0.0002	1.349e-05	0.0004	0.0002	0.0012	0.0046	0.0011	0.0013	0.0079	0.0011	0.0010	0.0067	0.0063	0.0011	0	0.0079	0	0.0020	0	0	4.447e-05	0.0039	0.0006	0.296	0.14694	T	1.0	0.01155	T	0.021	0.18474	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	-2.455	0.00064	N	1.97	0.22067	T	1.57	0.00677	N	0.11	0.09631	-0.9724	0.36691	T	0.009	0.03011	T	9	0.006852895	0.00156	T	0.001683	0.02779	T	0.027	0.05988	0.237	0.16760	0.0138822411134	0.00435	0.11663055396492457	0.11591	1.78550268228	0.91441	0.489605456591	0.37384	T	0.001307	0.00783	T	-0.685273	0.00045	T	-0.763908	0.02974	T	0.0176164157190372	0.00494	T	0.20168	0.02313	T	0.011767109	0.00022	0.02677526	0.00785	0.011767109	0.00022	0.02677526	0.00785	-5.114	0.38054	T	.	.	0.062	0.01252	B	.	.	-0.236041	0.02913	0.421	0.42590425614762761	0.03150	0.00655	0.02844	N	AEFI	0.040268	0.05965	N	-1.89900826124446	0.00345	0.01481682	-1.89515600191197	0.00501	0.02217462	7.61041393411946E-4	0.07758	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	1.55	-3.08	0.05022	0.934000	0.28510	-0.586000	0.08350	-0.970000	0.01946	0.004000	0.16614	0.000000	0.08366	0.000000	0.00833	0.197:0.1651:0.3986:0.2393	1.000	0.01384	824	0.40336	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	219.07	44	chr15	74072258	.	G	A	219.07	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.47;DP=986;ExcessHet=0.0000;FS=1.893;InbreedingCoeff=-0.0300;MLEAC=1;MLEAF=0.024;MQ=41.77;MQRankSum=-1.790e+00;QD=2.74;ReadPosRankSum=1.05;SOR=0.899	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	20	0	1	0
chr15	74072262	74072262	G	A	exonic	GOLGA6A	.	nonsynonymous SNV	GOLGA6A:NM_001038640:exon14:c.C1549T:p.P517S,	.	.	405	1092	25	0	0	25	0.0113173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.001	B	0.008	B	.	.	1.000	N	1.755	L	1.99	T	-0.966	T	0.034	T	0.091	-0.081	3.605	-3.11	-0.702	-0.254	0.353	0.020	.	.	.	0.0087	0.0378	0.0118	0.0387	0	0.0022	0.0057	0.0057	3.84e-05	1	26028	rs3964634	0.0008	0.0036	0.0009	0.0008	0.0114	0.0008	0.0008	0.0105	0.0101	0.0087	0.0025	0.0029	0.0114	7.639e-05	0.0048	0.0001	0.0012	0.0009	0.0022	0.0061	0.0020	0.0024	0.0135	0.0020	0.0019	0.0109	0.0099	0.0047	0	0.0029	0.0027	0.0135	0	0.0035	0.0001	0.0034	0.0011	0.118	0.28148	T	0.158	0.31629	T	0.001	0.07471	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	2.485	0.72352	M	1.99	0.21666	T	-3.15	0.64132	D	0.199	0.21969	-0.9660	0.38013	T	0.034	0.14596	T	9	0.005031675	0.00108	T	.	.	.	0.020	0.03691	.	.	0.0138822411134	0.00435	0.0749176636734956	0.07427	1.76277912104	0.91153	0.497287631035	0.38450	T	0.029471	0.21111	T	-0.315245	0.07294	T	-0.690604	0.06354	T	0.0128739248984829	0.00220	T	0.686431	0.29515	T	0.036610037	0.04537	0.07883556	0.17694	0.036610037	0.04537	0.07883556	0.17694	-3.149	0.11867	T	.	.	0.096	0.15296	B	.	.	0.345422	0.07190	3.777	0.44113949152018833	0.03369	0.02256	0.06529	N	AEFI	0.044811	0.07256	N	-1.5699202338572	0.01421	0.0619938	-1.7125793837809	0.01082	0.04862169	3.17110207094558E-4	0.06498	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	1.55	-3.11	0.04975	-0.178000	0.09775	1.202000	0.24844	-2.432000	0.00285	0.001000	0.13787	0.010000	0.20010	0.000000	0.00833	0.3002:0.1942:0.3097:0.1959	0.353	0.00327	824	0.40336	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	275.06	44	chr15	74072262	.	G	A	275.06	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=1029;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0294;MLEAC=1;MLEAF=0.024;MQ=46.54;MQRankSum=-1.634e+00;QD=3.62;ReadPosRankSum=1.05;SOR=0.600	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	20	0	1	0
chr15	74075735	74075735	A	G	exonic	GOLGA6A	.	nonsynonymous SNV	GOLGA6A:NM_001038640:exon9:c.T707C:p.I236T,	.	.	492	1022	8	0	0	8	0.00389864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.478	P	0.065	B	.	.	1.000	N	2.265	M	1.88	T	-1.021	T	0.060	T	0.186	2.103	12.99	1.51	0.978	3.246	7.195	0.088	.	.	.	0.0266	0	0	0	0.0714	0.0071	0	0.1047	0.0008861	137	154602	rs773671731	0.0019	0.0023	0.0013	0.0024	0.0162	0.0018	0.0018	0.0154	0.0151	0.0001	0.0009	0.0047	0	0.0021	0.0021	0.0007	0.0019	0.0162	0.0017	0.0022	0.0014	0.0020	0.0173	0.0015	0.0014	0.0138	0.0125	0.0002	0	0.0016	0.0037	0	0.0056	0.0108	0.0010	0.0029	0.0173	0.015	0.52492	D	0.009	0.66756	D	0.478	0.36706	P	0.065	0.27321	B	.	.	.	.	1	0.08975	N	2.65	0.77586	M	1.88	0.23884	T	-2.95	0.61580	D	0.101	0.08366	-1.0210	0.23389	T	0.060	0.25054	T	9	0.0056511164	0.00125	T	.	.	.	0.088	0.25558	0.409	0.44395	0.101711395817	0.09552	0.28949658689042135	0.28862	3.21115196292	0.99499	0.529025614262	0.42897	T	0.120839	0.44336	T	-0.198571	0.21012	T	-0.52301	0.19990	T	0.0608228038820783	0.07298	T	0.90391	0.66280	D	0.12767006	0.29868	0.12087362	0.29167	0.12767006	0.29868	0.12087362	0.29167	-8.908	0.67103	D	.	.	0.674	0.71900	P	.	.	2.922249	0.38794	20.8	0.98723343158482113	0.45230	0.33268	0.24787	N	AEFI	0.108075	0.21511	N	-0.440337393974588	0.24069	1.297024	-0.572697343504138	0.20206	1.087585	0.00170578783311951	0.08799	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.51	1.51	0.22094	3.439000	0.52642	7.797000	0.69042	0.355000	0.20016	0.973000	0.34540	0.964000	0.29435	0.001000	0.02609	1.0:0.0:0.0:0.0	7.195	0.25026	829	0.39537	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	175.34	34	chr15	74075735	.	A	G	175.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.94;DP=491;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0261;MLEAC=1;MLEAF=0.025;MQ=32.11;MQRankSum=2.90;QD=7.97;ReadPosRankSum=-7.400e-02;SOR=0.157	GT:AD:DP:GQ:PL	0/0:11,0:11:33:0,33,396	19	0	1	1
chr15	74134789	74134791	GAA	-	exonic	ISLR2	.	nonframeshift deletion	ISLR2:NM_020851:exon3:c.2035_2037del:p.E679del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.324e-06	0	0	0	0	1.517e-05	0	0	3.84e-05	1	26028	rs780380190	4.105e-06	4.104e-06	4.084e-06	4.126e-06	5.797e-05	1.48e-06	9.7e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	8.993e-07	0	5.797e-05	1.315e-05	1.314e-05	1.286e-05	1.346e-05	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1579.94	33	chr15	74134788	.	TGAA	T	1579.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.074e+00;DP=791;ExcessHet=0.0000;FS=6.447;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.57;ReadPosRankSum=-3.100e-02;SOR=1.104	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1077	20	0	1	0
chr15	74176033	74176033	G	A	exonic	ISLR	.	nonsynonymous SNV	ISLR:NM_005545:exon2:c.G1175A:p.R392H	.	.	395	1126	1	0	0	1	0.000443853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.923	P	0.132	B	0.195	U	1.000	N	0.695	N	-0.11	T	-0.973	T	0.110	T	0.151	2.180	13.24	3.49	2.047	1.673	11.320	0.108	0.0308653314733	0.0005	.	0.0002	0.0017	0	0	0	3.03e-05	0	0	0.0001294	20	154602	rs141231375	4.039e-05	4.173e-05	4.903e-05	3.166e-05	0.0014	3.181e-05	2.913e-05	0.0011	0.0009	0.0014	2.241e-05	0	0	0	0	6.298e-06	6.629e-05	1.161e-05	0.0004	0.0004	0.0004	0.0004	0.0016	0.0004	0.0003	0.0013	0.0012	0.0016	0	6.543e-05	0	0	0	0	1.47e-05	0	0	0.084	0.32929	T	0.161	0.31326	T	0.923	0.51194	P	0.132	0.33005	B	0.195000	0.16747	U	0.433164	1	0.08975	N	0.975	0.24501	L	-0.11	0.64445	T	-0.72	0.20358	N	0.193	0.21188	-0.9725	0.36670	T	0.110	0.39723	T	10	0.012585849	0.00270	T	0.030865	0.53083	D	0.108	0.30607	.	.	0.583395719892	0.58012	0.5904851158115079	0.58978	0.658102263844	0.58731	0.502789855003	0.39216	T	0.029554	0.21151	T	-0.467591	0.00880	T	-0.451223	0.27563	T	0.0189421891747743	0.00604	T	0.635836	0.24975	T	0.06101411	0.12586	0.051121756	0.08164	0.06101411	0.12585	0.051121756	0.08164	-4.299	0.28163	T	.	.	0.081	0.09433	B	.;.	.;.	3.537552	0.49663	22.8	0.99799430643510578	0.88461	0.31599	0.24378	N	AEFGBCI	0.191843	0.31903	N	-0.179340547580479	0.33995	1.935171	-0.163001961088481	0.32911	1.877155	0.999992527405045	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.514364	0.09456	0	0.542086	0.14980	0	.	.	4.48	3.49	0.39065	1.059000	0.30127	3.827000	0.39978	0.618000	0.50648	0.203000	0.24344	1.000000	0.68203	0.922000	0.45779	0.0:0.1839:0.8161:0.0	11.320	0.48651	802	0.44336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	931.98	42	chr15	74176033	.	G	A	931.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=909;ExcessHet=0.0000;FS=2.553;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.63;ReadPosRankSum=-1.016e+00;SOR=0.567	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1467	20	0	1	0
chr15	74196047	74196047	C	G	exonic	STRA6	.	nonsynonymous SNV	STRA6:NM_001142617:exon5:c.G367C:p.A123P	Microphthalmia, isolated, with coloboma 8, Autosomal recessive;Microphthalmia, syndromic 9, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	465174	not_provided|Matthew-Wood_syndrome	MedGen:C3661900|MONDO:MONDO:0011010,MedGen:C1832661,OMIM:601186,Orphanet:2470	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	1	T	0.001	B	0.003	B	0.000	N	1.000	N	-1.4	N	-1.34	T	-1.006	T	0.057	T	0.134	-0.948	0.346	4.32	0.710	1.964	13.643	0.207	.	0.0088	0.0071885	0.0023	0.0253	0.0014	0	0	0	0.0011	0	0.0021474	332	154602	rs115067613	0.0007	0.0007	0.0008	0.0006	0.0259	0.0007	0.0007	0.0244	0.0239	0.0259	0.0012	0	0	0	0.0010	1.619e-05	0.0016	0	0.0073	0.0073	0.0075	0.0071	0.0257	0.0069	0.0068	0.0244	0.0239	0.0257	0	0.0020	0	0	0	0	1.47e-05	0.0066	0	1.0	0.45756	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.08700	B	0.000090	0.51296	N	0.174871	0.999777	0.20887	N	-2.135	0.00144	N	-1.34	0.79944	T	3.07	0.47683	N	0.093	0.23506	-1.0056	0.28277	T	0.057	0.24055	T	10	0.0035663843	0.00064	T	.	.	.	0.207	0.49555	.	.	0.608043754429	0.60489	0.536711980439182	0.53596	0.12054125509	0.13576	0.379435539246	0.22176	T	0.073055	0.34604	T	-0.460765	0.00973	T	-0.413684	0.31801	T	0.00663396941536365	0.00074	T	0.237376	0.05330	T	0.0884733	0.20639	0.2414208	0.49539	0.06755393	0.14640	0.19375591	0.42960	-2.892	0.10224	T	.	.	0.044	0.00069	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.035992	0.14163	10.74	0.62509378958511497	0.06981	0.02056	0.06139	N	AEFGBCI	0.072998	0.14586	N	-1.00065277765158	0.08590	0.4033621	-0.763840246326596	0.15382	0.8087466	0.999998234668927	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.24	4.32	0.50899	2.085000	0.41258	4.457000	0.43444	-0.107000	0.15377	1.000000	0.71638	1.000000	0.68203	0.015000	0.10482	0.0:0.2962:0.7038:0.0	13.643	0.61740	824	0.40336	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1487.98	34	chr15	74196047	.	C	G	1487.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.653e+00;DP=892;ExcessHet=0.0000;FS=3.201;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.00;ReadPosRankSum=1.75;SOR=0.533	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	20	0	1	0
chr15	74197759	74197759	G	A	exonic	STRA6	.	nonsynonymous SNV	STRA6:NM_001142617:exon3:c.C173T:p.S58L	Microphthalmia, isolated, with coloboma 8, Autosomal recessive;Microphthalmia, syndromic 9, Autosomal recessive	.	1	1519	2	0	0	2	0.000657895	.	.	464537	not_provided|Matthew-Wood_syndrome	MedGen:C3661900|MONDO:MONDO:0011010,MedGen:C1832661,OMIM:601186,Orphanet:2470	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.37	T	0.013	B	0.009	B	0.167	N	1.000	N	0.345	N	-1.3	T	-1.008	T	0.096	T	0.391	1.794	11.96	2.31	0.485	1.067	5.802	0.143	.	0.0087	0.00738818	0.0023	0.0244	0.0014	0	0	0.0001	0.0012	6.097e-05	0.002141	331	154602	rs142105038	0.0008	0.0008	0.0009	0.0006	0.0250	0.0007	0.0007	0.0236	0.0230	0.0250	0.0012	0	0	0	0.0012	0.0001	0.0015	4.637e-05	0.0072	0.0072	0.0075	0.0069	0.0252	0.0069	0.0067	0.0239	0.0234	0.0252	0	0.0019	0	0	0	0	0.0001	0.0066	0	0.269	0.39575	T	0.467	0.12632	T	0.006	0.16609	B	0.004	0.14300	B	0.167019	0.17488	N	0.595751	1	0.08975	N	1.245	0.31408	L	-1.3	0.79571	T	-0.91	0.60827	N	0.176	0.20528	-1.0084	0.27416	T	0.096	0.36107	T	10	0.0072104335	0.00164	T	.	.	.	0.143	0.38195	.	.	0.576940836147	0.57363	0.34687949598454537	0.34601	0.0825373237616	0.09315	0.339429557323	0.16352	T	0.218547	0.58130	T	-0.344962	0.05052	T	-0.248019	0.50012	T	0.00998719984614951	0.00133	T	0.863014	0.57764	D	0.04185178	0.06241	0.05322925	0.08925	0.038201552	0.05044	0.054999106	0.09564	-2.61	0.10073	T	.	.	0.108	0.24633	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	1.812447	0.23033	15.86	0.98925758842580402	0.48639	0.01686	0.05377	N	AEFDGBI	0.104777	0.20955	N	-0.796522723177873	0.13400	0.659861	-0.7257180645199	0.16321	0.8628542	0.999996455668916	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.562822	0.20929	0	.	.	4.28	2.31	0.27816	1.245000	0.32393	1.801000	0.28882	0.618000	0.50648	0.002000	0.15269	0.001000	0.17328	0.979000	0.57723	0.2771:0.0:0.7229:0.0	5.802	0.17685	824	0.40336	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1478.98	34	chr15	74197759	.	G	A	1478.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.95;DP=861;ExcessHet=0.0000;FS=0.633;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=-1.490e-01;SOR=0.765	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1384	20	0	1	0
chr15	74272844	74272844	A	G	exonic	CCDC33	.	nonsynonymous SNV	CCDC33:NM_025055:exon7:c.A712G:p.M238V,	.	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.91	T	0.0	B	0.0	B	0.514	N	1.000	N	-1.7	N	2.43	T	-1.003	T	0.011	T	0.132	-0.773	0.751	-5.06	-1.929	-1.027	6.293	0.008	0.00786093187856	8e-05	.	4.141e-05	0.0003	0	0	0	2.998e-05	0	0	3.23e-05	5	154602	rs368467760	2.463e-05	2.463e-05	2.314e-05	2.613e-05	0.0005	1.803e-05	1.6e-05	0.0001	7.541e-05	0.0001	2.236e-05	0	0	0	0.0005	2.338e-05	1.656e-05	0	9.188e-05	9.185e-05	8.99e-05	9.394e-05	0.0002	5.521e-05	4.36e-05	9.537e-05	6.942e-05	0.0002	0	0	0	0	0	0	8.818e-05	0	0	0.333	0.13003	T	0.27	0.22359	T	0.0	0.02946	B	0.0	0.01387	B	0.514258	0.05165	N	1.313780	1	0.08975	N	.	.	.	2.43	0.15261	T	0.42	0.03352	N	0.1	0.08227	-1.0029	0.29080	T	0.011	0.03949	T	10	0.022761345	0.00577	T	0.007861	0.20851	T	0.008	0.00669	.	.	0.0297737177859	0.01360	0.16506348873789653	0.16426	0.0817274739642	0.09202	0.306943893433	0.11444	T	.	.	.	-0.570756	0.00219	T	-0.778193	0.02508	T	0.0877450630068779	0.10947	T	0.179582	0.01780	T	.	.	.	.	.	.	.	.	-1.114	0.01135	T	.	.	0.042	0.00022	B	.	.	-1.196487	0.00534	0.012	0.3241822109136539	0.01877	0.01155	0.04171	N	AEFDGBHCI	0.016182	0.00349	N	-2.04644514028022	0.00168	0.007190168	-2.01715274116424	0.00282	0.0124336	0.988306477265481	0.31471	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.37	-5.06	0.02725	-1.029000	0.03696	-0.731000	0.07661	-0.723000	0.03784	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.3939:0.356:0.2501:0.0	6.293	0.20279	814	0.42100	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2778.98	34	chr15	74272844	.	A	G	2778.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.162e+00;DP=1003;ExcessHet=0.0000;FS=1.415;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.79;ReadPosRankSum=0.794;SOR=0.791	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1223	20	0	1	0
chr15	74411586	74411586	C	A	exonic	SEMA7A	.	nonsynonymous SNV	SEMA7A:NM_001146029:exon11:c.G1505T:p.G502V	.	.	416	1103	3	0	0	3	0.00135808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.012	B	0.014	B	0.906	N	0.991	N	1.21	L	1.82	T	-0.993	T	0.050	T	0.328	0.429	6.329	0.907	-0.120	0.736	7.367	0.038	0.0106366223223	.	0.000199681	0.0002	0	0	0	0	0.0001	0	0.0012	0.0001617	25	154602	rs530718355	0.0001	0.0001	8.145e-05	0.0001	0.0010	9.36e-05	8.816e-05	0.0008	0.0007	3.043e-05	4.809e-05	0	0	0	0.0007	5.461e-05	0.0001	0.0010	8.535e-05	8.53e-05	7.708e-05	9.399e-05	0.0004	4.953e-05	3.96e-05	7.29e-05	5.088e-05	0	0	0.0001	0	0	0	0	0.0001	0	0.0004	0.111	0.46513	T	0.012	0.63918	D	0.012	0.16265	B	0.014	0.16862	B	0.906076	0.07385	N	1.045150	0.998592	0.24029	N	1.485	0.37223	L	1.82	0.25018	T	-1.41	0.35194	N	0.264	0.33687	-0.9927	0.31906	T	0.050	0.21261	T	10	0.020748913	0.00484	T	0.010637	0.27409	T	0.038	0.09825	.	.	0.208000267992	0.20380	0.6733882856364833	0.67276	0.763568361251	0.64387	0.326659679413	0.14430	T	0.086163	0.37663	T	-0.449289	0.01140	T	-0.499933	0.22353	T	0.0181374827356537	0.00535	T	0.823718	0.48487	T	0.09892484	0.23340	0.07540131	0.16595	0.09892484	0.23340	0.07540131	0.16595	-6.828	0.57045	T	.	.	0.264	0.50110	B	.;.;.	.;.;.	1.968353	0.25002	16.60	0.92071206098467306	0.21418	0.33297	0.24794	N	AEFGBHCI	0.141117	0.26320	N	-0.903990427741286	0.10748	0.5151527	-0.863429081578559	0.12965	0.6699732	0.999998115592128	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.5	0.907	0.18450	0.328000	0.19425	2.271000	0.31831	-0.249000	0.07183	0.000000	0.06391	1.000000	0.68203	0.907000	0.44265	0.0:0.5195:0.0:0.4805	7.367	0.25952	814	0.42100	PSI domain;PSI domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	861.98	37	chr15	74411586	.	C	A	861.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.989;DP=806;ExcessHet=0.0000;FS=0.880;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=-6.190e-01;SOR=0.880	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1314	20	0	1	0
chr15	74418935	74418935	G	A	exonic	SEMA7A	.	nonsynonymous SNV	SEMA7A:NM_001146029:exon2:c.C196T:p.R66W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.038	B	0.005	B	0.371	N	1.000	N	1.965	M	1.88	T	-1.016	T	0.061	T	0.152	1.366	10.49	0.468	0.102	0.725	3.300	0.083	0.00310040016817	0.0002	0.000199681	9.211e-05	9.952e-05	0	0	0	0.0001	0	0.0001	8.41e-05	13	154602	rs144593673	3.627e-05	3.625e-05	2.996e-05	4.265e-05	0.0001	2.829e-05	2.566e-05	6.246e-05	4.757e-05	5.974e-05	0	0	2.519e-05	0	0	3.417e-05	3.312e-05	0.0001	9.848e-05	9.842e-05	6.423e-05	0.0001	0.0002	6.001e-05	4.876e-05	0.0001	8.431e-05	0.0002	0	0	0	0	0	0	7.35e-05	0.0005	0	0.089	0.32141	T	0.158	0.31629	T	0.022	0.18677	B	0.002	0.06944	B	0.370746	0.04361	N	1.495040	1	0.08975	N	1.175	0.29870	L	1.88	0.23884	T	-2.06	0.48184	N	0.138	0.28028	-1.0163	0.24916	T	0.061	0.25528	T	10	0.06080824	0.07527	T	0.003	0.06726	T	0.083	0.24192	.	.	0.559885124835	0.55649	0.7232619460350066	0.72270	0.480955726322	0.47103	0.378051042557	0.21979	T	0.253317	0.62382	T	-0.427388	0.01537	T	-0.572255	0.15243	T	0.0366531917343063	0.03095	T	0.772023	0.40277	T	0.07694751	0.17435	0.03683295	0.03208	0.07694751	0.17435	0.03683295	0.03208	-5.023	0.37089	T	.	.	0.106	0.24363	B	.;.	.;.	2.856868	0.37735	20.6	0.97471421333700081	0.34136	0.15799	0.19087	N	AEFDGBHCI	0.132704	0.25210	N	-0.628669372852429	0.18087	0.9362092	-0.666299818608699	0.17805	0.9484239	0.999986363697325	0.51787	0.736574	0.97449	0	0.696144	0.67643	0	0.732669	0.93749	0	0.604944	0.38103	0	.	.	3.59	0.468	0.15943	0.461000	0.21651	2.719000	0.34297	0.676000	0.76740	0.021000	0.19753	0.998000	0.33993	0.986000	0.61781	0.2682:0.2205:0.5114:0.0	3.300	0.06570	809	0.43032	Sema domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1244.98	34	chr15	74418935	.	G	A	1244.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.95;DP=795;ExcessHet=0.0000;FS=2.549;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.64;ReadPosRankSum=1.75;SOR=0.985	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1293	20	0	1	0
chr15	74620119	74620119	G	A	exonic	CLK3	.	nonsynonymous SNV	CLK3:NM_001130028:exon3:c.G263A:p.R88H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.756	P	0.098	B	0.000	D	1.000	D	0.14	N	0.71	T	-1.074	T	0.052	T	0.48	3.196	16.70	5.04	1.535	3.227	10.914	0.160	0.015386502752	.	.	0.0003	0.0002	0.0002	0.0025	0.0009	1.499e-05	0	0	0.0002135	33	154602	rs761442417	0.0001	0.0001	9.665e-05	0.0001	0.0024	8.713e-05	8.2e-05	0.0020	0.0019	5.974e-05	4.472e-05	0	0.0024	0.0006	0	1.079e-05	4.967e-05	3.478e-05	0.0002	0.0002	7.706e-05	0.0003	0.0008	0.0001	0.0001	0.0003	0.0002	9.619e-05	0	6.537e-05	0	0.0008	0.0019	0	2.94e-05	0	0	0.578	0.91255	T	0.402	0.36101	T	0.449	0.36046	B	0.04	0.23831	B	0.000002	0.62929	D	0.000000	0.998434	0.53665	D	1.245	0.31408	L	0.71	0.53516	T	-0.1	0.82341	N	0.39	0.43126	-1.0737	0.08619	T	0.052	0.22076	T	10	0.008366376	0.00190	T	0.015387	0.36094	T	0.160	0.41473	0.271	0.22052	0.445922450684	0.44216	0.2698311778588867	0.26896	0.746381965392	0.63542	0.617707669735	0.55404	T	0.071404	0.34951	T	-0.359099	0.04181	T	-0.294765	0.45275	T	0.0359521841505588	0.02972	T	0.777122	0.46458	T	0.036368743	0.04459	0.049245194	0.07486	0.036368743	0.04459	0.049245194	0.07485	-4.334	0.28996	T	.	.	0.087	0.22171	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.265134	0.64845	24.8	0.99797156372671403	0.88194	0.78128	0.38501	D	AEFDBCI	0.239357	0.36133	N	-0.356282408697133	0.27043	1.480572	-0.170193422020522	0.32638	1.858947	0.999999717316484	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.95	5.04	0.67293	2.798000	0.47578	6.711000	0.56401	-0.106000	0.15538	0.993000	0.37899	1.000000	0.68203	0.981000	0.58702	0.1436:0.0:0.8564:0.0	10.914	0.46337	662	0.61715	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2401.98	34	chr15	74620119	.	G	A	2401.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.093e+00;DP=917;ExcessHet=0.0000;FS=0.490;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.72;ReadPosRankSum=-1.039e+00;SOR=0.655	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr15	74754996	74754996	G	A	exonic	CYP1A2	.	nonsynonymous SNV	CYP1A2:NM_000761:exon7:c.G1459A:p.V487M,	.	.	0	1519	3	0	0	3	0.000986518	.	.	754674	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.07	T	0.506	P	0.041	B	0.012	N	1.000	N	1.895	L	-0.41	T	-0.915	T	0.181	T	0.043	-0.047	3.775	1.31	0.088	-0.308	7.575	0.077	.	.	0.00479233	0.0027	0	0.0002	0	0	3.008e-05	0.0011	0.0198	0.0023868	369	154602	rs571663822	0.0012	0.0012	0.0007	0.0017	0.0186	0.0011	0.0011	0.0178	0.0175	8.961e-05	6.708e-05	0	0	0	0.0007	1.888e-05	0.0014	0.0186	0.0007	0.0007	0.0003	0.0011	0.0207	0.0006	0.0005	0.0174	0.0162	7.215e-05	0	0	0	0	0	0	2.94e-05	0	0.0207	0.069	0.35537	T	0.09	0.40267	T	.	.	.	.	.	.	0.012046	0.29308	N	0.361499	1	0.08975	N	2.855	0.82945	M	-0.41	0.69413	T	-0.34	0.12661	N	0.049	0.02088	-0.9153	0.46181	T	0.181	0.52843	T	10	0.00460881	0.00096	T	.	.	.	0.077	0.22490	0.494	0.58206	0.552005039658	0.54857	0.3410191909555812	0.34014	0.0702866836851	0.07872	0.276481091976	0.07007	T	0.228987	0.59468	T	-0.574818	0.00207	T	-0.582868	0.14290	T	0.0252767225722334	0.01308	T	0.748625	0.36937	T	0.155799	0.35193	0.15190803	0.35763	0.155799	0.35193	0.15190803	0.35762	-6.502	0.50302	T	.	.	0.121	0.25034	B	.	.	0.027741	0.04477	1.191	0.92976809135576788	0.22558	0.06804	0.12828	N	AEFBI	0.453854	0.50681	N	-0.888908208029228	0.11105	0.534163	-1.00092109679111	0.09765	0.4877495	0.0139551697504144	0.12533	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.530356	0.10902	0	.	.	4.39	1.31	0.20837	-0.201000	0.09466	-1.965000	0.04422	-0.258000	0.06954	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1487:0.2515:0.5997:0.0	7.575	0.27098	340	0.86005	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3064.98	35	chr15	74754996	.	G	A	3064.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.48;DP=963;ExcessHet=0.0000;FS=0.985;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.72;ReadPosRankSum=1.11;SOR=0.618	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1227	20	0	1	0
chr15	74854109	74854109	G	A	exonic	SCAMP2	.	nonsynonymous SNV	SCAMP2:NM_001320778:exon3:c.C137T:p.A46V	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.051	B	0.019	B	0.378	N	0.611	D	1.04	L	2.45	T	-1.044	T	0.029	T	0.298	1.586	11.26	3.42	0.605	4.447	5.250	0.034	0.00749920106007	7.7e-05	0.000599042	0.0002	0.0004	0.0011	0	0	0.0002	0	0	0.000304	47	154602	rs200893940	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	0.0001	0.0009	0.0007	0.0001	0.0008	0	2.519e-05	0	0.0017	0.0001	0.0005	2.319e-05	0.0003	0.0003	0.0003	0.0002	0.0009	0.0002	0.0002	0.0006	0.0004	0.0004	0	0.0009	0	0	0	0	0.0002	0.0009	0	0.12	0.36113	T	0.274	0.29249	T	0.051	0.22415	B	0.019	0.18783	B	0.377510	0.13437	N	0.677027	0.611129	0.32622	D	1.175	0.29870	L	2.45	0.46028	T	-1.27	0.35399	N	0.516	0.54671	-1.0440	0.16118	T	0.029	0.12409	T	10	0.022176653	0.00547	T	0.007499	0.19899	T	0.034	0.08419	.	.	0.303781844768	0.29979	0.22792070076497822	0.22707	0.390989153767	0.40301	0.641013503075	0.58707	T	0.014386	0.15470	T	-0.429803	0.01486	T	-0.453538	0.27305	T	0.0251295825742676	0.01290	T	0.726327	0.36724	T	0.021729274	0.00791	0.045736734	0.06221	0.021729274	0.00791	0.045736734	0.06221	-3.664	0.18788	T	.	.	0.096	0.24532	B	.;.;.;.	.;.;.;.	3.928048	0.57397	23.9	0.96932657236900166	0.31664	0.97331	0.74077	D	AEFBHI	0.611575	0.59997	D	-0.412149132727999	0.25043	1.356534	-0.26982574107581	0.29097	1.627524	0.996973438636251	0.35164	0.706548	0.73137	0	0.697927	0.68747	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.33	3.42	0.38259	4.537000	0.60354	7.622000	0.62351	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0772:0.144:0.6297:0.1491	5.250	0.14832	275	0.89190	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	780.98	36	chr15	74854109	.	G	A	780.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=787;ExcessHet=0.0000;FS=0.962;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=-8.530e-01;SOR=0.898	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1293	20	0	1	0
chr15	75048565	75048565	C	T	exonic	PPCDC	.	nonsynonymous SNV	PPCDC:NM_001301103:exon3:c.C148T:p.R50W	.	.	.	.	.	.	.	.	.	.	.	3370080	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	3.87	H	0.77	T	0.199	D	0.460	T	0.937	4.593	25.0	5.49	2.592	4.512	18.362	0.540	0.0904678762803	.	.	8.327e-06	0	0	0	0	1.514e-05	0	0	6.5e-06	1	154602	rs777408463	1.3e-05	1.3e-05	1.089e-05	1.513e-05	5.038e-05	8.32e-06	6.7e-06	8.35e-06	6.42e-06	0	0	3.833e-05	5.038e-05	0	0	1.349e-05	1.656e-05	0	1.314e-05	1.313e-05	1.284e-05	1.344e-05	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.050133	1	0.81001	D	4.25	0.98048	H	0.77	0.49642	T	-7.99	0.96495	D	0.935	0.95725	0.199	0.85891	D	0.460	0.79038	T	10	0.8736944	0.86648	D	0.090468	0.75524	D	0.540	0.80782	0.689	0.82653	0.907821639614	0.90690	0.949995266895455	0.94982	0.550770171259	0.51932	0.629957199097	0.57140	T	0.565752	0.85539	D	0.182605	0.72281	D	0.193651	0.82775	D	0.99974650144577	0.98780	D	0.998383	0.99214	D	0.992442	0.99878	0.9796417	0.99809	0.992442	0.99879	0.9796417	0.99809	-10.964	0.79460	D	.	.	0.806	0.77555	P	.;.;.;.;.;.	.;.;.;.;.;.	5.739840	0.93325	33	0.99915897263404863	0.98379	0.88816	0.48928	D	AEFDBCI	0.797634	0.72442	D	0.94220441621007	0.93667	12.19457	0.852983186399658	0.93190	11.88099	0.999999999411692	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.669	0.65921	0	.	.	5.49	5.49	0.81022	4.564000	0.60546	4.831000	0.45200	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:1.0:0.0:0.0	18.362	0.90321	406	0.82375	Flavoprotein;Flavoprotein;.;Flavoprotein;Flavoprotein;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1232.98	36	chr15	75048565	.	C	T	1232.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.690e-01;DP=782;ExcessHet=0.0000;FS=1.885;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.04;ReadPosRankSum=-7.760e-01;SOR=0.503	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1158	20	0	1	0
chr15	75206145	75206145	C	T	exonic	C15orf39	.	nonsynonymous SNV	C15orf39:NM_015492:exon2:c.C97T:p.H33Y,	.	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.037	B	0.04	B	0.486	N	1.000	N	0	N	-0.07	T	-1.045	T	0.097	T	0.088	-0.798	0.683	-1.48	-0.136	0.462	3.977	0.013	0.0238876205015	0.0016	0.00119808	0.0018	0.0007	0.0004	0	0.0002	0.0020	0.0011	0.0040	0.0017335	268	154602	rs141467125	0.0027	0.0027	0.0026	0.0028	0.0045	0.0026	0.0026	0.0041	0.0040	0.0007	0.0002	3.826e-05	0	0.0003	0.0005	0.0031	0.0014	0.0045	0.0016	0.0016	0.0017	0.0015	0.0050	0.0015	0.0014	0.0034	0.0029	0.0005	0	0.0015	0	0	0.0003	0	0.0026	0.0005	0.0050	0.211	0.19569	T	0.885	0.03178	T	0.037	0.20876	B	0.04	0.23831	B	0.486451	0.05011	N	1.341310	1	0.08975	N	0	0.06538	N	-0.07	0.63738	T	-0.23	0.10656	N	0.14	0.18512	-1.0448	0.15884	T	0.097	0.36419	T	10	0.003243655	0.00055	T	0.023888	0.46868	T	0.013	0.01715	.	.	0.082315109003	0.07666	0.12111947052686023	0.12038	0.250783794831	0.27656	.	.	.	0.001357	0.00824	T	-0.532002	0.00374	T	-0.536968	0.18596	T	0.00234065827868914	0.00024	T	0.655934	0.26722	T	0.04798072	0.08291	0.044754628	0.05869	0.04798072	0.08291	0.044754628	0.05868	-2.418	0.05339	T	.	.	0.083	0.11893	B	.;.;.	.;.;.	0.567469	0.09362	6.141	0.35706324613365686	0.02256	0.20733	0.21149	N	AEFDBCI	0.080518	0.16280	N	-1.14233532078988	0.05907	0.2705461	-1.15314298859365	0.06712	0.323984	0.999993941444158	0.74766	0.736574	0.97449	0	0.672317	0.65289	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.73	-1.48	0.08286	0.491000	0.22128	-0.022000	0.12912	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.060000	0.15972	0.1147:0.4979:0.2497:0.1376	3.977	0.08971	419	0.81524	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1688.98	38	chr15	75206145	.	C	T	1688.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.020e-01;DP=841;ExcessHet=0.0000;FS=2.162;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=2.04;SOR=0.947	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1144	20	0	1	0
chr15	75207621	75207621	-	CTGAGCCTGACTCTGCCACAG	exonic	C15orf39	.	nonframeshift insertion	C15orf39:NM_015492:exon2:c.1573_1574insCTGAGCCTGACTCTGCCACAG:p.A537_P538insTAEPDSA,	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	9.8e-05	0.0004	0	0	0.0016	0.0011	0.0008	0.0001921	5	26028	rs765506149	0.0012	0.0012	0.0012	0.0013	0.0016	0.0012	0.0012	0.0014	0.0014	5.974e-05	0.0006	0.0002	2.519e-05	3.796e-05	0.0016	0.0014	0.0009	0.0011	0.0008	0.0008	0.0010	0.0007	0.0015	0.0007	0.0007	0.0013	0.0012	0.0002	0	0.0007	0	0	0.0002	0.0102	0.0015	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1543.94	149	chr15	75207621	.	A	ACTGAGCCTGACTCTGCCACAG	1543.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.118e+00;DP=2381;ExcessHet=0.0000;FS=1.781;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.16;ReadPosRankSum=-2.771e+00;SOR=0.481	GT:AD:DP:GQ:PL	0/0:140,0:140:99:0,120,1800	20	0	1	0
chr15	75207928	75207928	G	A	exonic	C15orf39	.	nonsynonymous SNV	C15orf39:NM_015492:exon2:c.G1880A:p.G627D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.004	B	0.002	B	0.715	N	1.000	N	1.39	L	-1.41	T	-0.918	T	0.282	T	0.344	1.280	10.18	-0.873	-0.147	0.106	4.107	0.237	0.0176044258149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.523	0.07187	T	0.599	0.09052	T	0.004	0.12183	B	0.002	0.06944	B	0.715268	0.09980	N	0.826435	1	0.08975	N	1.935	0.51832	L	-1.41	0.80560	T	-0.01	0.07155	N	0.106	0.13626	-0.9183	0.45783	T	0.282	0.65369	T	10	0.05192557	0.05149	T	0.017604	0.39363	T	0.237	0.54074	0.143	0.04650	0.309278343525	0.30543	0.07123418737524992	0.07060	0.28209384682	0.30672	.	.	.	0.004437	0.03847	T	-0.0438486	0.45377	T	-0.300762	0.44644	T	0.0210446823358199	0.00805	T	0.554445	0.19192	T	0.033307157	0.03523	0.046002734	0.06317	0.033307157	0.03523	0.046002734	0.06316	-4.518	0.31123	T	.	.	0.096	0.30022	B	.;.;.	.;.;.	0.400711	0.07718	4.398	0.75096898954888902	0.10944	0.16869	0.19586	N	AEFDGBHCI	0.049966	0.08687	N	-1.00444461895767	0.08511	0.3993376	-1.06584744145167	0.08379	0.411776	0.999999738352018	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	3.89	-0.873	0.10096	0.005000	0.13029	-0.120000	0.11732	0.654000	0.53741	0.000000	0.06391	0.003000	0.18671	0.921000	0.45669	0.3268:0.335:0.3381:0.0	4.107	0.09513	419	0.81524	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3074.98	41	chr15	75207928	.	G	A	3074.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.330e-01;DP=1003;ExcessHet=0.0000;FS=1.034;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.73;ReadPosRankSum=0.186;SOR=0.602	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr15	75228914	75228914	C	T	exonic	LOC105376731	.	nonsynonymous SNV	LOC105376731:NM_001321990:exon3:c.G178A:p.V60I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.361e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1164.98	34	chr15	75228914	.	C	T	1164.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.803;DP=812;ExcessHet=0.0000;FS=2.805;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.80;ReadPosRankSum=0.127;SOR=1.096	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1286	20	0	1	0
chr15	75268848	75268848	C	T	exonic	GOLGA6C	.	nonsynonymous SNV	GOLGA6C:NM_001164404:exon14:c.C1553T:p.T518M,	.	.	478	1041	3	0	0	3	0.00143885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.01	B	0.002	B	.	.	1.000	N	-2.24	N	1.97	T	-0.962	T	0.011	T	0.134	-2.242	0.004	.	-0.000	0.890	5.818	0.021	0.00205986021916	.	.	0.0015	0.0099	0	0	0	0.0012	0	0	0.000461	12	26028	rs763563111	0.0028	0.0033	0.0031	0.0026	0.0438	0.0027	0.0027	0.0417	0.0409	0.0031	0.0438	0	0.0135	0	0.0006	0.0002	0.0035	0.0015	0.0046	0.0089	0.0043	0.0050	0.0328	0.0043	0.0041	0.0295	0.0282	0.0044	0	0.0328	0	0.0070	0	0	9.875e-05	0.0106	0.0017	0.239	0.17761	T	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-3.155	0.00009	N	1.97	0.22067	T	1.57	0.00677	N	0.061	0.03283	-0.9617	0.38858	T	0.011	0.03949	T	8	0.0045684576	0.00095	T	0.00206	0.03775	T	0.021	0.04004	0.274	0.22528	0.0138822411134	0.00435	0.17643580179217894	0.17562	1.71623382196	0.90501	0.560921132565	0.47399	T	0.002424	0.01816	T	-0.305667	0.08136	T	-0.676846	0.07177	T	0.00812584191375751	0.00097	T	0.19498	0.02126	T	0.018852912	0.00409	0.044147443	0.05655	0.018852912	0.00409	0.044147443	0.05655	-5.102	0.37929	T	.	.	0.063	0.01534	B	.	.	-0.316323	0.02547	0.307	0.84185768624106028	0.15146	0.01822	0.05664	N	AEFI	0.035930	0.04705	N	-1.53391093877469	0.01631	0.07131119	-1.54397286924548	0.02018	0.09220659	0.00241385320332672	0.09408	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	1.626000	0.36650	-0.023000	0.12899	-0.657000	0.04367	0.032000	0.20554	0.000000	0.08366	0.000000	0.00833	0.0:0.999:0.0:0.001	5.818	0.17765	509	0.75304	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.05263	392.76	18	chr15	75268848	.	C	T	392.76	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.912;DP=345;ExcessHet=0.1190;FS=2.866;InbreedingCoeff=-0.0617;MLEAC=2;MLEAF=0.053;MQ=35.20;MQRankSum=-1.645e+00;QD=8.73;ReadPosRankSum=-1.640e-01;SOR=1.193	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,688	17	0	2	2
chr15	75270143	75270143	G	A	exonic	GOLGA6C	.	nonsynonymous SNV	GOLGA6C:NM_001164404:exon18:c.G2026A:p.D676N,	.	.	357	1154	9	2	0	13	0.00560103	.	.	2238037	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	0.996	D	0.981	D	.	.	1.000	N	2.29	M	1.89	T	-1.025	T	0.122	T	0.022	1.309	10.29	.	-0.000	3.792	5.818	0.160	0.00363506451446	.	.	0.0001	0.0004	0	0.0002	0	0.0002	0.0011	0	0.0001617	25	154602	rs759718533	0.0003	0.0010	0.0003	0.0003	0.0034	0.0003	0.0003	0.0021	0.0017	0.0005	0.0009	3.874e-05	0.0010	0	0.0034	0.0003	0.0004	0.0002	0.0002	0.0009	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	0.0001	0	0.0004	0	0	0	0.0105	0.0002	0.0010	0	0.086	0.32610	T	0.143	0.33219	T	0.996	0.68779	D	0.981	0.75168	D	.	.	.	.	0.999637	0.20820	N	3.08	0.87267	M	1.89	0.23688	T	-2.29	0.50992	N	0.172	0.18376	-1.0248	0.22148	T	0.122	0.42272	T	8	0.15918177	0.29915	T	0.003635	0.08340	T	0.160	0.41473	0.263	0.20788	0.144782658237	0.14088	0.05356826369261531	0.05298	0.00230504125883	0.00198	0.591845035553	0.51754	T	0.045974	0.27284	T	-0.516048	0.00464	T	-0.670176	0.07597	T	0.118791940562018	0.14312	T	0.611839	0.23263	T	0.0900664	0.21064	0.06462031	0.12978	0.0900664	0.21064	0.06462031	0.12978	-3.521	0.16727	T	.	.	0.079	0.07460	B	.	.	1.468082	0.18916	13.99	0.98644588008126977	0.44096	0.53252	0.29327	D	AEFDI	0.281013	0.39469	N	-0.215494524765919	0.32497	1.833375	-0.517876742663213	0.21668	1.173238	0.0072213483233818	0.11414	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	3.975000	0.56567	2.248000	0.31665	0.393000	0.20503	1.000000	0.71638	0.994000	0.32194	0.002000	0.04165	0.001:0.0:0.999:0.0	5.818	0.17765	513	0.74941	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	798.98	39	chr15	75270143	.	G	A	798.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.251;DP=868;ExcessHet=0.0000;FS=0.793;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=52.57;MQRankSum=-8.250e+00;QD=8.07;ReadPosRankSum=0.388;SOR=0.855	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1048	20	0	1	0
chr15	75289428	75289428	G	A	exonic	GOLGA6D	.	nonsynonymous SNV	GOLGA6D:NM_001145224:exon8:c.G596A:p.R199Q,	.	.	457	1063	2	0	0	2	0.00093985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.032	B	0.001	B	.	.	1.000	N	0.49	N	1.99	T	-0.963	T	0.024	T	0.062	0.002	4.022	0.074	0.098	0.857	5.038	0.037	.	.	0.00439297	0.0045	0.0015	0	0.0579	0	0	0.0185	0.0019	0.0010758	28	26028	rs573112682	0.0006	0.0006	0.0006	0.0005	0.0151	0.0005	0.0005	0.0140	0.0136	9.723e-05	0.0001	8.01e-05	0.0151	2.353e-05	0.0004	9.843e-05	0.0009	0.0005	0.0009	0.0009	0.0007	0.0011	0.0186	0.0007	0.0007	0.0155	0.0143	0.0002	0	0.0001	0.0003	0.0186	0	0	0.0001	0.0011	0.0025	0.425	0.09687	T	0.401	0.14961	T	0.032	0.20242	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	1.99	0.21666	T	-0.54	0.16598	N	0.067	0.03956	-0.9631	0.38586	T	0.024	0.10239	T	9	0.0031198263	0.00052	T	.	.	.	0.037	0.09474	0.246	0.18139	0.0138822411134	0.00435	0.031278453539270154	0.03076	2.12843697498	0.95139	0.452956855297	0.32347	T	0.003551	0.02960	T	-0.603536	0.00139	T	-0.757542	0.03201	T	0.00388590974997225	0.00041	T	0.480052	0.14488	T	0.023876747	0.01167	0.02931879	0.01257	0.023876747	0.01167	0.02931879	0.01257	-2.208	0.04079	T	.	.	0.075	0.05404	B	.;.	.;.	1.636013	0.20887	14.95	0.80170013867803869	0.13077	0.00346	0.01789	N	AEFI	0.018732	0.00591	N	-1.23881842889219	0.04448	0.2008015	-1.25707098658918	0.05027	0.2385668	2.31706553982499E-4	0.06095	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.64	0.074	0.13706	2.645000	0.46287	1.671000	0.27955	0.226000	0.18113	0.983000	0.35670	0.017000	0.20586	0.020000	0.11549	0.8151:0.0:0.1849:0.0	5.038	0.13785	508	0.75398	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	696.53	38	chr15	75289428	.	G	A	696.53	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.579;DP=670;ExcessHet=0.0000;FS=2.194;InbreedingCoeff=-0.0332;MLEAC=1;MLEAF=0.025;MQ=37.01;MQRankSum=-1.980e-01;QD=10.55;ReadPosRankSum=0.521;SOR=0.437	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1184	19	0	1	1
chr15	75289647	75289647	T	C	exonic	GOLGA6D	.	nonsynonymous SNV	GOLGA6D:NM_001145224:exon9:c.T707C:p.I236T,	.	.	557	944	19	2	0	23	0.0120356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.833	P	0.139	B	.	.	1.000	N	2.265	M	1.88	T	-1.021	T	0.058	T	0.213	1.987	12.60	2.28	1.007	3.868	8.469	0.119	0.00796519432275	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1215069065	0.0044	0.0042	0.0033	0.0053	0.0253	0.0042	0.0042	0.0242	0.0238	0.0002	0.0016	0.0082	0	0.0039	0.0046	0.0020	0.0034	0.0253	0.0018	0.0019	0.0014	0.0023	0.0167	0.0015	0.0014	0.0118	0.0102	0	0	0.0016	0.0032	0	0.0059	0.0119	0.0014	0.0013	0.0167	0.005	0.63226	D	0.009	0.66756	D	0.833	0.46172	P	0.139	0.33484	B	.	.	.	.	1	0.08975	N	2.65	0.77586	M	1.88	0.23884	T	-2.95	0.61580	D	0.253	0.28616	-1.0210	0.23389	T	0.058	0.24391	T	9	0.012281328	0.00265	T	0.007965	0.21110	T	0.119	0.33137	0.4	0.42917	0.0666544352282	0.05500	0.33568783136035263	0.33481	3.32765753199	0.99616	0.713933944702	0.69163	T	0.127012	0.45376	T	-0.188671	0.22454	T	-0.508789	0.21439	T	0.852578818798065	0.50389	D	0.90061	0.66280	D	0.16182752	0.36218	0.16693573	0.38538	0.16182752	0.36218	0.16693573	0.38538	-8.982	0.67581	D	.	.	0.737	0.74489	P	.;.	.;.	2.992315	0.39950	21.1	0.98367542472321956	0.40709	0.79108	0.39138	D	AEFI	0.156180	0.28149	N	-0.232537073474553	0.31805	1.787172	-0.381771426266653	0.25540	1.405196	0.0122133597378084	0.12295	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.28	2.28	0.27583	3.837000	0.55524	4.870000	0.45558	0.203000	0.17936	0.998000	0.41325	1.000000	0.68203	0.007000	0.07825	0.0:0.0:0.0:1.0	8.469	0.32136	508	0.75398	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02632	93.02	12	chr15	75289647	.	T	C	93.02	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.50;DP=236;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0452;MLEAC=1;MLEAF=0.026;MQ=27.01;MQRankSum=-1.132e+00;QD=4.65;ReadPosRankSum=0.619;SOR=0.197	GT:AD:DP:GQ:PL	0/0:17,0:17:36:0,36,540	18	0	1	2
chr15	75290467	75290467	G	T	exonic	GOLGA6D	.	stopgain	GOLGA6D:NM_001145224:exon11:c.G934T:p.E312X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	2.283	13.59	0.615	0.229	1.214	4.020	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1478917892	7.805e-05	0.0002	7.444e-05	8.126e-05	0.0001	5.571e-05	4.828e-05	5.547e-05	4.629e-05	0	0.0001	0.0003	0	0	0	8.529e-05	9.925e-05	7.732e-05	0.0005	0.0002	0.0005	0.0006	0.0024	0.0003	0.0002	0.0004	0.0002	0	0	0.0024	0.0040	0	0	0	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.019	0.00279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.339908	0.85826	D	0.250478	0.85640	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.	High;.	5.404399	0.90485	31	0.992907246581193	0.58255	0.05778	0.11711	N	AEFI	0.064774	0.12598	N	0.0561038226482104	0.44423	2.716711	-0.375368609575088	0.25733	1.416996	2.20763559477119E-4	0.05997	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.56	0.615	0.16784	0.662000	0.24721	4.535000	0.43741	0.407000	0.20612	0.000000	0.06391	0.999000	0.35428	0.003000	0.05239	0.4043:0.0:0.5957:0.0	4.020	0.09147	505	0.75648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02632	165.36	6	chr15	75290467	.	G	T	165.36	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.590e+00;DP=126;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0612;MLEAC=1;MLEAF=0.026;MQ=33.61;MQRankSum=-4.470e-01;QD=7.87;ReadPosRankSum=1.42;SOR=0.250	GT:AD:DP:GQ:PL	0/0:6,0:6:15:0,15,225	18	0	1	2
chr15	75293124	75293124	C	T	exonic	GOLGA6D	.	nonsynonymous SNV	GOLGA6D:NM_001145224:exon14:c.C1553T:p.T518M,	.	.	.	.	.	.	.	.	.	.	.	2341959	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.21	T	0.005	B	0.004	B	.	.	1.000	N	-2.35	N	1.97	T	-0.972	T	0.008	T	0.075	-2.782	0	-3.02	-0.846	0.245	1.007	0.012	0.00174989255133	.	.	0.0017	0.0081	0	0	0	0	0	0	3.84e-05	1	26028	rs763893139	0.0004	0.0010	0.0004	0.0003	0.0091	0.0004	0.0004	0.0082	0.0078	0.0091	0.0029	0	0.0015	1.922e-05	0.0002	5.071e-05	0.0006	0.0002	0.0031	0.0059	0.0030	0.0032	0.0099	0.0029	0.0028	0.0091	0.0088	0.0099	0	0.0042	0	0.0020	0	0	8.841e-05	0.0010	0.0006	0.241	0.17643	T	1.0	0.01155	T	0.005	0.12996	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-2.4	0.00074	N	1.97	0.22067	T	1.57	0.00677	N	0.083	0.05929	-0.9724	0.36691	T	0.008	0.02968	T	9	0.005182147	0.00113	T	0.00175	0.02960	T	0.012	0.01476	0.251	0.18912	0.0138822411134	0.00435	0.16048240264229796	0.15969	2.01184860429	0.93918	0.384172588587	0.22846	T	0.001473	0.00925	T	-0.353844	0.04490	T	-0.746049	0.03642	T	0.015249334547864	0.00336	T	0.216778	0.02717	T	0.0115765985	0.00019	0.028756538	0.01142	0.0115765985	0.00019	0.028756538	0.01142	-5.118	0.38096	T	.	.	0.064	0.02370	B	.;.	.;.	-0.146406	0.03375	0.603	0.3780200863580378	0.02512	0.01011	0.03813	N	AEFI	0.044510	0.07171	N	-1.89357415348419	0.00354	0.01520222	-1.88707886673697	0.00519	0.02301646	0.00246096164508958	0.09445	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.56	-3.02	0.05116	0.809000	0.26827	0.004000	0.13336	-1.925000	0.00503	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2392:0.3993:0.1651:0.1964	1.007	0.01396	505	0.75648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	370.33	40	chr15	75293124	.	C	T	370.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.590e+00;DP=736;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=36.37;MQRankSum=-5.620e-01;QD=5.97;ReadPosRankSum=0.625;SOR=0.722	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1457	19	0	1	1
chr15	75351353	75351353	G	A	exonic	NEIL1	.	nonsynonymous SNV	NEIL1:NM_001352519:exon3:c.G152A:p.C51Y,	.	.	440	1079	3	0	0	3	0.00138825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0	0	0	.	0.0021	0.0104	0.0006	9.06e-05	14	154602	rs760526659	0.0003	0.0001	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	0	9.43e-05	0.0027	0	0	0	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0002	7.733e-05	6.372e-05	5.986e-05	4.343e-05	2.667e-05	0	0.0002	0.0015	0	0	0.0041	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	139.33	41	chr15	75351353	.	G	A	139.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.004e+00;DP=695;ExcessHet=0.0000;FS=2.656;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=5.36;ReadPosRankSum=-8.830e-01;SOR=1.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:30,0:30:75:.:.:0,75,1125	19	0	1	1
chr15	75650396	75650396	C	T	exonic	SNX33	.	nonsynonymous SNV	SNX33:NM_153271:exon1:c.C1294T:p.P432S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.947	P	0.908	P	0.000	D	1.000	D	1.155	L	1.06	T	-0.997	T	0.171	T	0.488	4.240	22.1	5.48	2.586	5.998	18.337	0.206	0.0121657577853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	0	1.376e-06	1.161e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.387	0.15650	T	0.947	0.53479	P	0.908	0.64494	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.67	0.42885	L	1.06	0.39781	T	0.27	0.04306	N	0.453	0.49055	-0.9966	0.30865	T	0.171	0.51181	T	10	0.44041598	0.58065	T	0.012166	0.30502	T	0.206	0.49396	0.514	0.61307	0.64968156612	0.64677	0.46120647261755116	0.46038	1.29733811053	0.82933	0.630146026611	0.57166	T	0.017922	0.14537	T	-0.0521219	0.44125	T	-0.312646	0.43374	T	0.840633928775787	0.49379	D	0.941406	0.78138	D	0.2664146	0.49712	0.27158108	0.53060	0.2664146	0.49712	0.27158108	0.53059	-5.212	0.39064	T	.	.	0.104	0.18991	B	.	.	4.094995	0.61022	24.3	0.99901348891370745	0.97275	0.96391	0.68909	D	AEFGBI	0.740802	0.68494	D	0.521777388680784	0.68379	5.209095	0.569836601191491	0.72787	5.865331	0.999999999957543	0.74766	0.660085	0.49399	0	0.659912	0.62753	0	0.662677	0.59975	0	0.662433	0.64102	0	.	.	5.48	5.48	0.80675	6.080000	0.70936	7.720000	0.67265	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	18.337	0.90232	178	0.93097	Sorting nexin protein, WASP-binding domain|Sorting nexin-33, BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1703.98	34	chr15	75650396	.	C	T	1703.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.36;DP=821;ExcessHet=0.0000;FS=3.290;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.335;SOR=0.871	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1423	20	0	1	0
chr15	75687854	75687854	C	T	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.G3211A:p.V1071I,	.	.	429	1082	10	1	0	12	0.00551471	.	.	3430021	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.2	T	0.226	B	0.041	B	0.176	N	1.000	N	1.735	L	0.98	T	-1.033	T	0.098	T	0.106	1.101	9.494	4.14	1.103	1.433	11.734	0.040	0.0095671237633	0.0002	0.000199681	0.0002	9.86e-05	8.672e-05	0	0	0.0002	0.0034	0.0005	0.000207	32	154602	rs143544297	0.0002	0.0002	0.0001	0.0002	0.0062	0.0002	0.0002	0.0046	0.0041	8.961e-05	0.0001	0.0003	7.557e-05	0	0.0062	0.0001	0.0003	0.0009	0.0002	0.0002	0.0001	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	9.623e-05	0	0.0002	0.0003	0	0	0.0068	0.0001	0.0014	0.0008	0.203	0.20154	T	0.211	0.26631	T	0.226	0.30455	B	0.041	0.23986	B	0.175967	0.17237	N	0.539133	1	0.08975	N	1.54	0.38927	L	0.98	0.42122	T	-0.74	0.20791	N	0.274	0.31027	-1.0328	0.19554	T	0.098	0.36677	T	10	0.02402541	0.00647	T	0.009567	0.25039	T	0.040	0.10527	.	.	0.223847106136	0.22009	0.1985138272065129	0.19768	0.283660828332	0.30797	0.264948606491	0.05494	T	0.07349	0.34710	T	-0.514191	0.00475	T	-0.633646	0.10139	T	0.00931770984205036	0.00119	T	0.562944	0.19809	T	0.06855209	0.14943	0.11397094	0.27508	0.06855209	0.14943	0.11397094	0.27507	-7.786	0.59602	D	.	.	0.099	0.16843	B	.	.	2.275660	0.29088	18.01	0.98078269462014078	0.38086	0.44108	0.27246	N	AEFDGBHCI	0.151457	0.27594	N	-0.466872488934897	0.23171	1.242485	-0.463218025171598	0.23174	1.262469	0.999484923228312	0.39952	0.59774	0.34471	0	0.588066	0.40923	0	0.576033	0.28219	0	0.63947	0.58350	0	.	.	5.07	4.14	0.47821	1.466000	0.34919	4.059000	0.41572	0.520000	0.23804	0.001000	0.13787	0.326000	0.24349	0.815000	0.38403	0.0:0.913:0.0:0.087	11.734	0.51022	162	0.93704	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1922.98	57	chr15	75687854	.	C	T	1922.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.051;DP=1408;ExcessHet=0.0000;FS=1.302;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.99;ReadPosRankSum=-2.265e+00;SOR=0.551	GT:AD:DP:GQ:PL	0/0:83,0:83:99:0,120,1800	20	0	1	0
chr15	75689424	75689424	G	T	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.C1641A:p.N547K,	.	.	427	1085	8	2	0	12	0.00549954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.91	T	0.363	B	0.075	B	0.222	N	0.988	D	1.87	L	0.89	T	-1.071	T	0.073	T	0.161	-0.326	2.454	3.23	0.507	0.522	5.973	0.088	0.0115413820492	0.0011	0.000998403	0.0018	0.0002	0.0004	0	0.0021	0.0015	0.0023	0.0062	0.0015136	234	154602	rs149356457	0.0011	0.0011	0.0009	0.0014	0.0059	0.0011	0.0011	0.0055	0.0053	5.975e-05	6.71e-05	0	0	0.0021	0.0007	0.0009	0.0008	0.0059	0.0010	0.0010	0.0010	0.0011	0.0060	0.0009	0.0008	0.0043	0.0037	2.406e-05	0	6.536e-05	0	0	0.0024	0	0.0015	0.0005	0.0060	0.191	0.21066	T	0.007	0.69154	D	0.363	0.33965	B	0.075	0.28327	B	0.221645	0.16124	N	0.608532	0.988332	0.40745	D	2.52	0.73523	M	0.89	0.45636	T	-2.26	0.50502	N	0.237	0.26717	-1.0705	0.09304	T	0.073	0.29515	T	10	0.0096978545	0.00218	T	0.011541	0.29267	T	0.088	0.25558	0.548	0.66296	0.358540694251	0.35469	0.38825812195644643	0.38740	0.383846054443	0.39699	0.479140639305	0.35938	T	0.109053	0.42260	T	-0.529936	0.00384	T	-0.531936	0.19094	T	0.024536552011552	0.01212	T	0.713829	0.32570	T	0.099413894	0.23461	0.10362604	0.24867	0.099413894	0.23461	0.10362604	0.24867	-5.786	0.44452	T	.	.	0.188	0.40473	B	.	.	1.025401	0.14049	10.62	0.89243605733300169	0.18631	0.66341	0.33045	D	AEFGBI	0.270100	0.38624	N	-0.688538519081708	0.16347	0.8320507	-0.713209620717987	0.16632	0.8807704	0.982807541387755	0.30458	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.530356	0.10902	0	.	.	5.21	3.23	0.36150	0.202000	0.17094	2.432000	0.32735	0.590000	0.31872	0.002000	0.15269	0.999000	0.35428	0.015000	0.10482	0.1589:0.0:0.6881:0.153	5.973	0.18600	162	0.93704	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	594.98	40	chr15	75689424	.	G	T	594.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.046e+00;DP=716;ExcessHet=0.0000;FS=1.330;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.00;ReadPosRankSum=0.382;SOR=0.963	GT:AD:DP:GQ:PL	0/0:32,0:32:90:0,90,1350	20	0	1	0
chr15	75689462	75689462	G	A	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.C1603T:p.R535W,	.	.	426	1082	14	0	0	14	0.00642792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.359	B	0.048	B	0.005	N	0.944	D	1.995	M	0.84	T	-0.909	T	0.120	T	0.519	1.149	9.680	4.28	1.152	3.099	11.758	0.101	.	.	.	0.0182	0.1443	0.0161	0.0009	0.0030	0.0083	0.0115	0.0025	3.84e-05	1	26028	rs745996000	0.0005	0.0030	0.0005	0.0005	0.0012	0.0005	0.0005	0.0009	0.0008	0.0012	0.0008	3.839e-05	0	0.0002	0.0002	0.0006	0.0005	0.0001	0.0011	0.0089	0.0012	0.0010	0.0015	0.0010	0.0009	0.0012	0.0011	0.0010	0	0.0013	0	0	0.0003	0.0036	0.0015	0.0029	0	0.098	0.30800	T	0.148	0.32675	T	0.359	0.33845	B	0.048	0.24975	B	0.004928	0.33255	N	0.197448	0.943647	0.37418	D	1.83	0.48079	L	0.84	0.47477	T	-4.03	0.74348	D	0.241	0.27197	-0.9095	0.46916	T	0.120	0.41950	T	10	0.0055229664	0.00122	T	.	.	.	0.101	0.28911	.	.	.	.	0.5942112410034864	0.59351	0.414727290251	0.42141	0.420476049185	0.27901	T	0.179246	0.53016	T	-0.0768624	0.40222	T	-0.348184	0.39413	T	0.0232633917681905	0.01055	T	0.848915	0.53103	T	0.19802327	0.41690	0.11960068	0.28866	0.19802327	0.41689	0.11960068	0.28866	-5.477	0.41653	T	.	.	0.109	0.20780	B	.	.	2.737894	0.35852	20.1	0.99660942033087574	0.77947	0.94482	0.61308	D	AEFGBI	0.547532	0.56119	D	-0.123978638809798	0.36349	2.099944	-0.0872515613291245	0.35916	2.083678	0.998336080510221	0.36777	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.530356	0.10902	0	.	.	5.21	4.28	0.50183	3.428000	0.52560	4.450000	0.43419	0.590000	0.31872	0.974000	0.34632	0.994000	0.32194	0.281000	0.24041	0.0:0.0:0.6801:0.3199	11.758	0.51157	162	0.93704	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	77.98	40	chr15	75689462	.	G	A	77.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.87;DP=719;ExcessHet=0.0000;FS=10.620;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.21;MQRankSum=-7.586e+00;QD=1.32;ReadPosRankSum=-1.819e+00;SOR=2.980	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1215	20	0	1	0
chr15	75689475	75689475	C	T	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.G1590A:p.M530I,	.	.	424	1081	17	0	0	17	0.00780174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.0	B	0.001	B	0.063	N	1.000	N	-0.345	N	0.95	T	-1.058	T	0.038	T	0.107	-2.232	0.005	1.85	0.470	0.407	3.403	0.023	.	.	.	0.0174	0.1466	0.0138	0.0011	0.0026	0.0075	0.0128	0.0024	0.0001617	25	154602	rs111241892	6.957e-05	0.0017	7.541e-05	6.367e-05	0.0023	5.82e-05	5.429e-05	0.0018	0.0017	0.0023	0.0001	0.0001	2.522e-05	5.741e-05	0.0002	1.174e-05	1.668e-05	4.644e-05	0.0006	0.0089	0.0007	0.0005	0.0023	0.0005	0.0005	0.0019	0.0017	0.0023	0	0.0001	0	0	0	0.0036	1.482e-05	0.0005	0	0.6	0.05635	T	0.822	0.03806	T	0.0	0.02946	B	0.001	0.04355	B	0.063178	0.22045	N	0.404516	1	0.08975	N	-0.14	0.04484	N	0.95	0.43279	T	0.29	0.04161	N	0.085	0.06190	-1.0584	0.12159	T	0.038	0.16376	T	10	0.006351322	0.00143	T	.	.	.	0.023	0.04649	0.388	0.40951	.	.	0.20265331753997656	0.20182	0.367565022576	0.38318	0.307521432638	0.11533	T	0.031651	0.22138	T	-0.30488	0.08207	T	-0.675716	0.07247	T	0.00399998134396657	0.00042	T	0.641436	0.25361	T	0.092039354	0.21582	0.06114747	0.11762	0.092039354	0.21581	0.06114747	0.11762	-4.344	0.28789	T	.	.	0.162	0.35746	B	.	.	0.851256	0.12232	8.778	0.32394098162709423	0.01875	0.72709	0.35580	D	AEFGBI	0.131795	0.25087	N	-0.683284506569927	0.16498	0.8410988	-0.540082985921979	0.21069	1.138083	0.949165715942953	0.27833	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.530356	0.10902	0	.	.	5.04	1.85	0.24418	0.571000	0.23372	1.535000	0.27187	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.040000	0.14268	0.2812:0.365:0.274:0.0797	3.403	0.06906	162	0.93704	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	74.98	40	chr15	75689475	.	C	T	74.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.138e+00;DP=747;ExcessHet=0.0000;FS=13.735;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.05;MQRankSum=-7.718e+00;QD=1.23;ReadPosRankSum=-1.788e+00;SOR=3.469	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1215	20	0	1	0
chr15	75689603	75689603	C	T	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.G1462A:p.A488T,	.	.	429	1079	14	0	0	14	0.00644567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.615	P	0.159	B	0.000	D	0.983	D	1.555	L	2.13	T	-1.091	T	0.042	T	0.417	0.690	7.683	5.12	2.375	3.620	13.061	0.174	.	.	0.00599042	0.0243	0.0096	0.0137	0.0200	0.0142	0.0332	0.0183	0.0128	0.0012679	33	26028	rs72732868	0.0008	0.0079	0.0008	0.0008	0.0082	0.0007	0.0007	0.0074	0.0072	0.0002	0.0003	0.0006	0.0082	0.0002	0.0009	0.0006	0.0006	0.0003	0.0007	0.0031	0.0006	0.0009	0.0111	0.0006	0.0006	0.0088	0.0080	0.0001	0	0.0004	0.0003	0.0111	0.0002	0	0.0005	0.0010	0.0008	0.194	0.20835	T	0.012	0.63918	D	0.615	0.39791	P	0.159	0.34693	B	0.000419	0.44736	D	0.093684	0.983141	0.39978	D	1.79	0.46772	L	2.13	0.19588	T	-0.83	0.22727	N	0.179	0.19325	-1.0915	0.05286	T	0.042	0.17910	T	10	0.0058493316	0.00131	T	.	.	.	0.174	0.44019	.	.	.	.	0.42678734187444106	0.42595	0.626776388847	0.56798	0.354917347431	0.18644	T	0.075735	0.35250	T	-0.143714	0.29299	T	-0.444211	0.28337	T	0.013029156001717	0.00227	T	0.729327	0.34443	T	0.08869844	0.20700	0.09523169	0.22578	0.08869844	0.20700	0.09523169	0.22577	-3.743	0.19955	T	.	.	0.206	0.43227	B	.	.	2.280329	0.29155	18.03	0.98388572036927513	0.40936	0.78470	0.38718	D	AEFBI	0.133191	0.25277	N	-0.0988076745998395	0.37445	2.178575	-0.056196607839385	0.37223	2.17657	0.997347920073087	0.35520	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.530356	0.10902	0	.	.	5.12	5.12	0.69459	3.093000	0.49912	2.681000	0.34017	0.524000	0.24156	0.985000	0.35982	0.992000	0.31684	0.005000	0.06747	0.1615:0.8385:0.0:0.0	13.061	0.58419	162	0.93704	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.119	1383.43	40	chr15	75689603	.	C	T	1383.43	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-1.220e-01;DP=1187;ExcessHet=1.1607;FS=11.205;InbreedingCoeff=-0.1337;MLEAC=5;MLEAF=0.119;MQ=58.37;MQRankSum=-8.802e+00;QD=2.81;ReadPosRankSum=-2.432e+00;SOR=1.880	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,102,1458	16	0	5	0
chr15	75689635	75689635	C	T	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.G1430A:p.R477H,	.	.	422	1077	23	0	0	23	0.010565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.513	P	0.079	B	0.000	D	0.953	N	1.79	L	2.14	T	-1.046	T	0.043	T	0.372	1.107	9.517	4.19	2.375	1.407	9.359	0.068	0.0120667652604	.	.	0.0066	0.0030	0.0036	0.0006	0.0030	0.0091	0.0045	0.0054	3.84e-05	1	26028	rs200493777	7.295e-05	0.0015	7.395e-05	7.193e-05	0.0008	6.151e-05	5.734e-05	0.0005	0.0005	0.0008	0.0001	0	0.0002	0.0001	0.0005	4.339e-05	6.65e-05	6.975e-05	0.0004	0.0022	0.0003	0.0004	0.0010	0.0003	0.0003	0.0008	0.0007	0.0010	0	0.0001	0.0003	0	0.0003	0	8.969e-05	0.0005	0.0004	0.544	0.06713	T	0.024	0.56640	D	0.513	0.37366	P	0.079	0.28749	B	0.000447	0.44317	D	0.096704	0.953023	0.26418	N	2.595	0.75868	M	2.14	0.19450	T	-1.73	0.41046	N	0.24	0.27077	-1.0460	0.15534	T	0.043	0.18326	T	10	0.00795725	0.00181	T	0.012067	0.30309	T	0.068	0.19811	.	.	0.366659145958	0.36277	0.5800590243062339	0.57934	0.423483163706	0.42806	0.293441236019	0.09426	T	0.182449	0.53447	T	-0.172229	0.24898	T	-0.485171	0.23899	T	0.0405854374412424	0.03796	T	0.773423	0.40508	T	0.036069673	0.04365	0.037466243	0.03404	0.036069673	0.04365	0.037466243	0.03404	-4.29	0.28037	T	.	.	0.075	0.05711	B	.	.	1.613444	0.20617	14.83	0.98479293593176109	0.41954	0.24936	0.22547	N	AEFBI	0.188776	0.31604	N	-0.352546072684954	0.27179	1.489096	-0.401571392193893	0.24950	1.369288	0.99754577931452	0.35740	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.12	4.19	0.48645	0.882000	0.27824	1.349000	0.25794	0.524000	0.24156	0.003000	0.16062	0.750000	0.26544	0.003000	0.05239	0.0:0.8315:0.0:0.1685	9.359	0.37349	162	0.93704	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.1667	1598.59	40	chr15	75689635	.	C	T	1598.59	.	AC=7;AF=0.167;AN=42;BaseQRankSum=0.980;DP=1516;ExcessHet=2.5830;FS=16.480;InbreedingCoeff=-0.2002;MLEAC=7;MLEAF=0.167;MQ=58.06;MQRankSum=-9.104e+00;QD=2.13;ReadPosRankSum=-1.467e+00;SOR=2.354	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,102,1458	14	0	7	0
chr15	75690325	75690325	C	A	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.G740T:p.R247L,	.	.	242	1239	41	0	0	41	0.0162763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.579	P	0.155	B	0.964	N	1.000	N	1.04	L	-1.15	T	-0.845	T	0.136	T	0.268	2.263	13.53	-7.51	-1.409	-0.268	12.053	0.336	.	.	.	0.0072	0.0221	0.0051	0.0002	0.0016	0.0082	0.0106	0.0026	4.53e-05	7	154602	rs150241616	0.0023	0.0075	0.0022	0.0023	0.0104	0.0022	0.0022	0.0083	0.0075	0.0076	0.0012	0.0014	0	0.0013	0.0104	0.0024	0.0019	0.0007	0.0003	0.0038	0.0003	0.0004	0.0006	0.0003	0.0002	0.0004	0.0004	0.0006	0	0.0003	0	0	9.443e-05	0.0035	0.0003	0.0010	0	0.027	0.46513	D	0.073	0.43159	T	0.579	0.38789	P	0.155	0.34417	B	0.963717	0.07733	N	1.017680	0.999987	0.18198	N	1.59	0.40313	L	-1.15	0.77964	T	-2.52	0.54702	D	0.26	0.29429	-0.8451	0.52304	T	0.136	0.45164	T	10	0.0137501955	0.00291	T	.	.	.	0.336	0.65816	.	.	0.456089687795	0.45231	0.5956843285600265	0.59498	0.526958073932	0.50312	0.209487393498	0.00790	T	0.353228	0.72055	T	-0.0896309	0.38139	T	-0.366525	0.37296	T	0.0229721219108999	0.01020	T	0.69823	0.30825	T	0.0856866	0.19887	0.17583492	0.40076	0.0856866	0.19887	0.17583492	0.40075	-4.458	0.30335	T	.	.	0.087	0.11414	B	.	.	0.218507	0.06011	2.453	0.95054651626861075	0.26075	0.16596	0.19462	N	AEFBI	0.241601	0.36319	N	-1.19395214962389	0.05091	0.2312774	-1.31445633219564	0.04242	0.1997009	0.999317597206819	0.39113	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.21	-7.51	0.01203	0.200000	0.17055	-6.465000	0.01391	-1.914000	0.00512	0.003000	0.16062	0.000000	0.08366	0.346000	0.25568	0.0:0.1131:0.1092:0.7777	12.053	0.52813	162	0.93704	Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	709.98	38	chr15	75690325	.	C	A	709.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.34;DP=868;ExcessHet=0.0000;FS=8.780;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.84;MQRankSum=-5.609e+00;QD=8.16;ReadPosRankSum=-2.013e+00;SOR=1.807	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	20	0	1	0
chr15	75727140	75727140	C	T	exonic	ODF3L1	.	nonsynonymous SNV	ODF3L1:NM_175881:exon4:c.C425T:p.T142M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.896	P	0.756	N	1.000	N	2.16	M	1.2	T	-0.898	T	0.208	T	0.288	2.668	14.88	4.57	2.264	3.810	13.224	0.169	0.0307764739162	.	.	1.653e-05	0	0	0	0	3.009e-05	0	0	1.29e-05	2	154602	rs761648132	1.573e-05	1.573e-05	1.089e-05	2.063e-05	0.0007	1.048e-05	8.75e-06	0.0002	0.0001	0	0	0	0	0	0.0007	1.709e-05	0	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.006	0.70582	D	0.999	0.77913	D	0.896	0.63555	P	0.756021	0.09661	N	0.861926	1	0.08975	N	2.215	0.62545	M	1.2	0.37405	T	-2.94	0.61435	D	0.31	0.34981	-0.8985	0.48145	T	0.208	0.56785	T	10	0.27754745	0.45322	T	0.030776	0.53014	D	0.169	0.43123	0.505	0.59924	0.162503812791	0.15892	0.6538015092117342	0.65316	0.842773914373	0.68145	0.337903916836	0.16124	T	0.277583	0.65020	T	-0.206964	0.19808	T	-0.404615	0.32847	T	0.824868381023407	0.48136	D	0.757724	0.38135	T	0.12826933	0.29993	0.17572282	0.40058	0.12826933	0.29993	0.17572282	0.40057	-8.225	0.62593	D	.	.	0.161	0.35477	B	.	.	3.246244	0.44338	21.9	0.99836612232304744	0.91800	0.29873	0.23936	N	AEFDBI	0.308155	0.41482	N	0.157342986679268	0.49160	3.119544	-0.0311610989902053	0.38315	2.255648	0.999999995176535	0.74766	0.679555	0.55442	0	0.547309	0.14657	0	0.600882	0.32295	2	0.530356	0.10902	0	.	.	4.57	4.57	0.55860	4.101000	0.57501	1.687000	0.28047	0.599000	0.40250	0.091000	0.22601	0.002000	0.18203	0.052000	0.15357	0.0:1.0:0.0:0.0	13.224	0.59331	166	0.93555	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1838.98	34	chr15	75727140	.	C	T	1838.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.904;DP=834;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=0.892;SOR=0.642	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1219	20	0	1	0
chr15	75844444	75844444	T	C	exonic	UBE2Q2	.	nonsynonymous SNV	UBE2Q2:NM_001145335:exon1:c.T91C:p.C31R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.001	B	0.001	B	.	.	1.000	N	0.695	N	.	.	-1.013	T	0.059	T	0.103	1.245	10.05	-2.24	-0.507	0.002	8.805	0.011	0.000845717180134	.	.	5.033e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs745615700	5.574e-05	5.336e-05	6.063e-05	5.071e-05	0.0012	4.538e-05	4.197e-05	0.0006	0.0004	0	0	0	0	0	0.0012	6.024e-05	8.622e-05	1.262e-05	1.97e-05	1.969e-05	1.285e-05	2.686e-05	0.0002	5.24e-06	2.45e-06	.	.	2.405e-05	0	0	0	0	0	0.0034	0	0	0.0002	0.011	0.55530	D	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	1	0.19486	N	.	.	.	.	.	.	1.16	0.01136	N	0.142	0.14196	-1.0133	0.25880	T	0.059	0.24575	T	8	0.05821386	0.06809	T	8.46E-4	0.00713	T	.	.	.	.	0.241078983079	0.23725	.	.	.	.	.	.	.	.	.	.	-0.300929	0.08572	T	-0.444338	0.28323	T	0.0634488672709693	0.07700	T	0.230977	0.03126	T	.	.	.	.	.	.	.	.	-2.374	0.04976	T	.	.	0.224	0.45605	B	.	.	0.577085	0.09458	6.234	0.65398601453607386	0.07761	0.02125	0.06275	N	ALL	0.047009	0.07869	N	-1.25421900902732	0.04244	0.191169	-1.34997229990628	0.03806	0.1782938	0.999999999997514	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.179345	0.04352	3	0.56214	0.19341	0	.	.	2.31	-2.24	0.06518	-0.004000	0.12813	-1.348000	0.05654	-0.183000	0.09960	0.064000	0.21895	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.6637:0.3363	8.805	0.34088	213	0.91726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	2085.33	36	chr15	75844444	.	T	C	2085.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-3.114e+00;DP=984;ExcessHet=0.0000;FS=0.539;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=-2.100e-02;SOR=0.629	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	19	0	1	1
chr15	76434100	76434100	T	G	exonic	SCAPER	.	nonsynonymous SNV	SCAPER:NM_001145923:exon26:c.A2551C:p.N851H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.663	P	0.218	B	0.000	D	0.913	N	0	N	1.96	T	-1.068	T	0.031	T	0.106	2.433	14.10	5.93	2.263	3.645	14.948	0.059	0.00593449347827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	1.368e-06	0	1.375e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.098	0.44702	T	.	.	.	.	.	.	0.000257	0.46924	D	0.272836	0.912577	0.27474	N	0	0.06538	N	1.96	0.22270	T	-0.77	0.21429	N	0.165	0.17416	-1.0683	0.09791	T	0.031	0.13242	T	10	0.20319852	0.36466	T	0.005934	0.15460	T	0.059	0.16972	.	.	0.235038932564	0.23097	0.23355192463564528	0.23270	0.377667360134	0.39193	0.358874768019	0.19222	T	0.008118	0.07471	T	-0.25688	0.13267	T	-0.606767	0.12248	T	0.448350621001067	0.30737	T	0.836316	0.50742	T	0.1493486	0.34052	0.09722717	0.23135	0.1493486	0.34051	0.09722717	0.23135	-3.991	0.26795	T	.	.	0.104	0.18705	B	.;.;.	.;.;.	3.450589	0.48049	22.6	0.97654361215395935	0.35155	0.98236	0.80802	D	AEFDBI	0.632015	0.61278	D	0.0375394927629911	0.43569	2.647359	0.2381065270286	0.51974	3.375695	0.999999612162073	0.74766	0.638212	0.43195	0	0.624146	0.53433	0	0.616094	0.41390	0	0.668105	0.65232	0	.	.	5.93	5.93	0.95888	3.634000	0.54043	7.848000	0.70832	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	14.948	0.70694	598	0.68232	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1143.98	33	chr15	76434100	.	T	G	1143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.38;DP=776;ExcessHet=0.0000;FS=0.849;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.62;ReadPosRankSum=0.013;SOR=0.903	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1219	20	0	1	0
chr15	76775051	76775051	G	A	exonic	SCAPER	.	nonsynonymous SNV	SCAPER:NM_001145923:exon9:c.C101T:p.A34V	.	.	10	1499	12	1	0	14	0.00464807	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.008	B	0.02	B	0.000	N	0.983	D	1.32	L	1.87	T	-1.096	T	0.054	T	0.192	2.434	14.10	4.84	1.429	4.250	10.985	0.032	0.00942726121963	0.0006	0.000599042	0.0004	0	0.0003	0	0	0.0006	0	0.0007	0.0004269	66	154602	rs200719909	0.0003	0.0003	0.0003	0.0003	0.0026	0.0003	0.0003	0.0016	0.0013	8.964e-05	0.0007	0.0006	0	0	0.0026	0.0003	0.0005	0.0006	0.0005	0.0005	0.0004	0.0006	0.0020	0.0004	0.0004	0.0015	0.0013	2.407e-05	0	0.0020	0.0003	0	0	0.0068	0.0006	0.0005	0.0010	0.087	0.40573	T	0.273	0.22154	T	.	.	.	.	.	.	0.000005	0.62929	N	0.106321	0.983304	0.39998	D	1.375	0.34280	L	1.87	0.26152	T	-0.7	0.51646	N	0.145	0.14622	-1.0963	0.04569	T	0.054	0.22997	T	10	0.022257	0.00551	T	0.009427	0.24716	T	0.032	0.07718	.	.	0.277317399466	0.27352	0.2372709990579786	0.23642	0.274027578364	0.29904	0.364029288292	0.19971	T	0.011786	0.15706	T	-0.461147	0.00967	T	-0.513169	0.20990	T	0.0198226465984839	0.00684	T	0.816918	0.47330	T	0.06967035	0.15284	0.078833655	0.17694	0.06967035	0.15283	0.078833655	0.17694	-3.811	0.25157	T	.	.	0.071	0.32128	B	.;.;.;.;.;.	.;.;.;.;.;.	2.448883	0.31530	18.77	0.99543358538378068	0.70648	0.95082	0.63372	D	AEFBI	0.514377	0.54178	D	-0.140527327545632	0.35639	2.049624	0.00896810147865833	0.40131	2.390098	0.980839523138988	0.30182	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	5.76	4.84	0.62125	4.365000	0.59259	5.001000	0.46597	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.750000	0.35786	0.1489:0.0:0.8511:0.0	10.985	0.46731	262	0.89730	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1187.98	34	chr15	76775051	.	G	A	1187.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.163;DP=844;ExcessHet=0.0000;FS=1.507;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.00;ReadPosRankSum=0.369;SOR=0.891	GT:AD:DP:GQ:PL	0/1:81,51:132:99:1202,0,2008	20	0	1	0
chr15	76995458	76995458	G	A	exonic	PSTPIP1	.	nonsynonymous SNV	PSTPIP1:NM_001321137:exon2:c.G80A:p.R27Q,	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.636e-05	0.0004	0	0	0	0.0001	0	0	2.59e-05	4	154602	rs753207002	2.886e-05	3.147e-05	2.651e-05	3.125e-05	0.0006	2.147e-05	1.932e-05	0.0004	0.0003	0.0006	0	0.0004	0	2.169e-05	0.0002	7.314e-06	1.702e-05	2.422e-05	0.0001	0.0001	0.0001	9.413e-05	0.0004	7.09e-05	5.746e-05	0.0002	0.0002	0.0004	0	6.541e-05	0.0003	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999977	0.18612	N	.	.	.	1.11	0.38883	T	-0.29	0.11728	N	.	.	.	.	.	.	.	.	.	0.042137206	0.02934	T	.	.	.	.	.	.	.	0.696942628111	0.69432	.	.	.	.	.	.	.	.	.	.	-0.544814	0.00313	T	-0.66068	0.08221	T	.	.	.	0.375062	0.08943	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.18991	B	.	.	-0.200076	0.03089	0.486	0.90994299279949054	0.20244	0.02518	0.07018	N	AEFDGBCIJ	0.055932	0.10299	N	.	.	.	.	.	.	0.999999999998508	0.74766	0.497415	0.19182	0	0.298843	0.05288	2	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.22	-8.45	0.00826	-2.133000	0.01395	-4.018000	0.02390	-0.967000	0.01957	0.000000	0.06391	0.000000	0.08366	0.841000	0.39698	0.5389:0.2019:0.1573:0.1019	3.519	0.07293	294	0.88270	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1486.98	33	chr15	76995458	.	G	A	1486.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.761;DP=805;ExcessHet=0.0000;FS=1.555;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.77;ReadPosRankSum=-1.528e+00;SOR=0.875	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1049	20	0	1	0
chr15	77018522	77018522	C	T	exonic	PSTPIP1	.	nonsynonymous SNV	PSTPIP1:NM_001321135:exon3:c.C203T:p.T68M	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, Autosomal dominant	.	2	1505	15	0	0	15	0.00495868	.	.	333093	Pyogenic_arthritis-pyoderma_gangrenosum-acne_syndrome|Autoinflammatory_syndrome|Behcet_disease|not_provided	MONDO:MONDO:0011462,MedGen:C1858361,OMIM:604416,Orphanet:69126|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0007191,MedGen:C0004943,OMIM:109650,Orphanet:117|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.975	D	0.000	D	0.998	D	2.045	M	2.22	T	-1.052	T	0.095	T	0.427	2.583	14.60	2.8	2.136	2.113	12.880	0.110	.	0.0003	0.00259585	0.0041	0	0	0	0	0.0009	0	0.0138	0.0014036	217	154602	rs201872851	0.0012	0.0012	0.0009	0.0015	0.0106	0.0011	0.0011	0.0101	0.0098	0.0002	0.0002	3.954e-05	0.0001	0.0004	0.0022	0.0006	0.0011	0.0106	0.0008	0.0008	0.0007	0.0009	0.0131	0.0007	0.0007	0.0105	0.0095	0.0001	0.0088	0.0001	0	0.0010	9.422e-05	0	0.0006	0.0005	0.0131	0.081	0.40068	T	0.006	0.70582	D	0.997	0.70673	D	0.96	0.70309	D	0.000132	0.49741	D	0.129712	0.998273	0.44710	D	2.695	0.78878	M	2.22	0.18248	T	-3.34	0.67359	D	0.649	0.67391	-1.0518	0.13899	T	0.095	0.35818	T	10	0.008586079	0.00194	T	.	.	.	0.110	0.31079	.	.	0.444102476654	0.44032	0.20512035705097484	0.20429	0.273339174114	0.29833	0.542813420296	0.44843	T	0.217498	0.57996	T	-0.437978	0.01329	T	-0.394083	0.34074	T	0.0456250258513416	0.04715	T	0.805819	0.75281	T	0.20762521	0.42974	0.32661963	0.58568	0.2633664	0.49401	0.28573403	0.54577	-6.632	0.51297	T	0.299791559136237	0.39707	0.095	0.14888	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.616532	0.73258	26.0	0.99715263890427619	0.81633	0.69683	0.34285	D	AEFDBI	0.312195	0.41771	N	0.404765875198445	0.61682	4.372834	0.338445706913134	0.57815	3.948715	0.999990992634835	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.48864	0.07692	0	0.542086	0.14980	0	.	.	3.81	2.8	0.31881	3.602000	0.53818	4.862000	0.45480	0.549000	0.26987	0.995000	0.38783	1.000000	0.68203	0.901000	0.43729	0.0:0.8341:0.1659:0.0	12.880	0.57400	294	0.88270	FCH domain|F-BAR domain|FCH domain;FCH domain|F-BAR domain|FCH domain;FCH domain|F-BAR domain|FCH domain;FCH domain|F-BAR domain|FCH domain;.;FCH domain|F-BAR domain|FCH domain;F-BAR domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	346.98	33	chr15	77018522	.	C	T	346.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.453;DP=736;ExcessHet=0.0000;FS=3.012;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.91;ReadPosRankSum=0.500;SOR=1.006	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1217	20	0	1	0
chr15	77037132	77037132	G	C	exonic	PSTPIP1	.	nonsynonymous SNV	PSTPIP1:NM_001321135:exon14:c.G1150C:p.G384R	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, Autosomal dominant	.	0	1501	20	1	0	22	0.00727513	.	.	433870	not_provided|Autoinflammatory_syndrome|Pyogenic_arthritis-pyoderma_gangrenosum-acne_syndrome	MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0011462,MedGen:C1858361,OMIM:604416,Orphanet:69126	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.87	M	-0.16	T	0.521	D	0.677	D	0.788	4.375	23.1	5.16	2.397	8.621	17.210	0.715	0.379205151611	8e-05	0.000199681	0.0003	0	0	0	0	7.981e-05	0	0.0018	0.0002199	34	154602	rs369113632	0.0002	0.0002	0.0001	0.0002	0.0038	0.0002	0.0002	0.0026	0.0022	0	2.239e-05	0	2.519e-05	0	0.0038	7.197e-05	0.0003	0.0018	7.225e-05	7.218e-05	5.142e-05	9.402e-05	0.0014	3.97e-05	3.126e-05	0.0007	0.0005	0	0	6.539e-05	0	0.0002	0	0.0034	1.471e-05	0	0.0014	0.002	0.72154	D	0.006	0.72224	D	0.999	0.77913	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.06	0.86941	M	-0.16	0.65378	T	-3.98	0.74193	D	0.905	0.92667	0.521	0.90839	D	0.677	0.88837	D	10	0.438865	0.57971	T	0.379205	0.92931	D	0.715	0.89877	0.946	0.99325	0.92207517935	0.92128	0.803177007946961	0.80271	0.693671442879	0.60719	0.666114509106	0.62284	T	0.243553	0.61251	T	-0.0918208	0.37774	T	0.088545	0.76148	D	0.260756384061415	0.23348	T	0.950605	0.82752	D	0.5855443	0.71910	0.53273374	0.73000	0.6310291	0.74354	0.5507435	0.74024	-10.06	0.75170	D	0.5577426508343604	0.62574	0.232	0.50472	B	.;.;.	.;.;.	4.906991	0.80697	27.4	0.99921221613265843	0.98787	0.95409	0.64607	D	AEFDBCI	0.888545	0.82176	D	0.849350165810424	0.89071	9.823342	0.7756234460527	0.88054	9.43995	0.999999999991267	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.679469	0.61720	0	0.491896	0.07777	0	.	.	5.16	5.16	0.70563	9.209000	0.94206	11.834000	0.97615	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.511000	0.29267	0.0:0.0:1.0:0.0	17.210	0.86811	295	0.88218	SH3 domain|SH3 domain|SH3 domain|PSTPIP1, SH3 domain;SH3 domain|SH3 domain|SH3 domain|PSTPIP1, SH3 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2132.98	35	chr15	77037132	.	G	C	2132.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.684e+00;DP=892;ExcessHet=0.0000;FS=2.640;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-1.087e+00;SOR=0.938	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr15	77114350	77114350	T	G	exonic	PEAK1	.	nonsynonymous SNV	PEAK1:NM_024776:exon8:c.A5047C:p.S1683R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.001	B	0.001	B	0.168	U	0.994	N	0	N	-0.41	T	-1.018	T	0.117	T	0.282	0.140	4.754	1.95	0.410	0.709	8.264	0.110	0.0197898326284	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1234979243	3.42e-06	3.42e-06	6.806e-06	0	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	6.572e-06	6.567e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.129	0.26852	T	0.456	0.12740	T	0.001	0.07471	B	0.001	0.04355	B	0.167843	0.17464	U	0.548905	1	0.08975	N	0.895	0.22405	L	-0.41	0.69413	T	-1.06	0.27669	N	0.169	0.17966	-1.0175	0.24528	T	0.117	0.41341	T	10	0.08972207	0.15567	T	0.01979	0.42241	T	0.110	0.31079	0.553	0.66995	0.20808081866	0.20439	0.4181313653680462	0.41729	0.0666632247173	0.07434	0.339246571064	0.16325	T	0.02292	0.17585	T	-0.133887	0.30870	T	-0.430096	0.29925	T	0.0531158180981099	0.06039	T	0.445455	0.12454	T	0.11585771	0.27334	0.11630786	0.28078	0.11585771	0.27334	0.11630786	0.28077	-4.935	0.36126	T	.	.	0.272	0.50563	B	.;.	.;.	0.662584	0.10309	7.041	0.93661038767010396	0.23551	0.71772	0.35158	D	AEFBI	0.198678	0.32552	N	-1.0178560477284	0.08233	0.3853115	-0.927313336151418	0.11451	0.5834265	0.999729476171335	0.42220	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.57	1.95	0.25130	0.453000	0.21523	0.448000	0.18493	-0.137000	0.12594	0.176000	0.24013	0.187000	0.23467	0.009000	0.08673	0.0:0.2951:0.0:0.7049	8.264	0.30964	363	0.84772	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1862.98	38	chr15	77114350	.	T	G	1862.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.490e-01;DP=980;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=-2.391e+00;SOR=0.722	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1298	20	0	1	0
chr15	77470925	77470925	G	C	exonic	HMG20A	.	nonsynonymous SNV	HMG20A:NM_001304504:exon5:c.G466C:p.A156P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	4.01	H	-3.87	D	1.083	D	0.959	D	0.978	5.239	33	5.88	2.780	9.476	20.219	0.926	0.36457501465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.0063	0.0018	0.0016	0.0020	0.0016	0.0016	0.0019	0.0019	0.0015	7.544e-05	0.0004	0.0003	1.886e-05	0.0013	0.0020	0.0012	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.49	0.98946	H	-3.87	0.95922	D	-4.76	0.80340	D	0.951	0.95956	1.083	0.98998	D	0.959	0.98660	D	10	0.8971046	0.90150	D	0.364575	0.92596	D	0.926	0.98192	0.642	0.77903	0.968703745723	0.96836	0.8872671032323289	0.88695	1.50727079688	0.87154	0.880620002747	0.94044	D	0.900783	0.98052	D	0.576488	0.96944	D	0.590309	0.96894	D	0.999476850032806	0.97549	D	0.962604	0.86052	D	0.9461271	0.95872	0.9591841	0.98928	0.9461271	0.95872	0.9591841	0.98928	-15.627	0.97148	D	.	.	1.000	0.99585	P	.;.;.;.	.;.;.;.	6.308495	0.94988	34	0.99786623120083784	0.87308	0.99689	0.98687	D	AEFGBI	0.951203	0.96554	D	1.13537706431312	0.98738	19.20727	1.06046795470621	0.99493	23.16804	0.9999999999968	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	9.602000	0.97623	11.852000	0.98107	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.219	0.98314	0	0.99858	High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	176.52	30	chr15	77470925	.	G	C	176.52	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.775e+00;DP=955;ExcessHet=0.6776;FS=359.107;InbreedingCoeff=-0.1149;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.80;ReadPosRankSum=0.794;SOR=10.021	GT:AD:DP:GQ:PL	0/1:42,17:59:39:39,0,848	17	0	4	0
chr15	78098004	78098004	G	C	exonic	SH2D7	.	nonsynonymous SNV	SH2D7:NM_001101404:exon3:c.G342C:p.Q114H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.001	B	0.002	B	.	.	1.000	N	0.125	N	-2.43	D	-0.783	T	0.378	T	0.054	-0.697	0.982	-3.14	-1.121	-1.144	8.434	0.194	0.0445091307339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.22486	T	0.575	0.08654	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.755	0.19153	N	-2.43	0.88689	D	-0.64	0.18670	N	0.059	0.03069	-0.7834	0.56110	T	0.378	0.73557	T	9	0.0676226	0.09447	T	0.044509	0.61522	D	0.194	0.47447	0.531	0.63855	0.245660935333	0.24156	0.41108724713247813	0.41024	0.037337482246	0.03956	0.292185693979	0.09241	T	0.143363	0.47943	T	-0.197108	0.21222	T	-0.520909	0.20202	T	0.0831974883731889	0.10391	T	0.488951	0.15001	T	0.08098027	0.18584	0.054468587	0.09372	0.08098027	0.18584	0.054468587	0.09372	-3.764	0.20268	T	.	.	0.150	0.33249	B	.	.	-0.211262	0.03035	0.465	0.73002486227663199	0.10172	0.00955	0.03671	N	AEFDBI	0.044554	0.07182	N	-1.59287649773502	0.01300	0.05662846	-1.62995832367569	0.01483	0.06711233	0.99781490025954	0.36062	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.51	-3.14	0.04928	-1.327000	0.02789	-0.305000	0.10084	-0.859000	0.02647	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1105:0.2024:0.6081:0.079	8.434	0.31936	793	0.45818	SH2 domain|SH2 domain|SH2 domain|SH2D7, SH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3334.98	34	chr15	78098004	.	G	C	3334.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.410e-01;DP=1198;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.45;ReadPosRankSum=-1.313e+00;SOR=0.672	GT:AD:DP:GQ:PL	0/1:173,146:319:99:3349,0,4249	20	0	1	0
chr15	78105833	78105833	C	T	exonic	CIB2	.	nonsynonymous SNV	CIB2:NM_001271889:exon3:c.G301A:p.D101N	Deafness, autosomal recessive 48, Autosomal recessive;Usher syndrome, type IJ, Autosomal recessive	.	0	1504	18	0	0	18	0.00594845	.	.	194948	not_specified|CIB2-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.06	T	0.045	B	0.061	B	0.000	D	1.000	D	0.835	L	-0.77	T	-0.697	T	0.215	T	0.046	3.857	19.59	5.19	2.422	6.010	17.271	0.214	.	0.0030	0.00599042	0.0022	0.0096	0.0010	0	0	0.0003	0.0033	0.0081	0.0020698	320	154602	rs141932061	0.0010	0.0010	0.0008	0.0013	0.0092	0.0010	0.0010	0.0086	0.0084	0.0090	0.0009	0	0	0	0.0017	0.0002	0.0013	0.0092	0.0029	0.0029	0.0028	0.0030	0.0085	0.0027	0.0026	0.0078	0.0075	0.0085	0	0.0023	0	0	0	0	0.0003	0.0028	0.0068	0.079	0.33753	T	0.158	0.43531	T	0.021	0.18474	B	0.013	0.16460	B	0.000022	0.55875	D	0.118544	1	0.81001	D	0.645	0.16088	N	-0.77	0.73523	T	-1.73	0.50830	N	0.189	0.25130	-0.6967	0.60596	T	0.215	0.57613	T	10	0.009683847	0.00218	T	.	.	.	0.214	0.50650	.	.	0.818751176553	0.81703	0.3706232519565266	0.36976	0.212021421631	0.23700	0.567988991737	0.48393	T	0.233752	0.60062	T	-0.487015	0.00675	T	-0.464378	0.26123	T	0.0283049701846141	0.01732	T	0.659134	0.47426	T	0.31094852	0.53868	0.1480134	0.35005	0.20830348	0.43062	0.17063473	0.39187	-6.838	0.56153	T	0.16144605688934827	0.19766	0.081	0.19958	B	.;.;.;.	.;.;.;.	3.089465	0.41597	21.4	0.99794350769981488	0.88017	0.98263	0.81054	D	AEFDGBI	0.861763	0.77990	D	-0.0160398938398794	0.41130	2.454701	0.162493814721121	0.47808	3.005505	1.0	0.98316	0.833774	0.99917	0	0.68618	0.66647	0	0.0	0.00061	3	0.673998	0.66042	0	.	.	5.19	5.19	0.71428	6.092000	0.71061	1.701000	0.28132	0.549000	0.26987	1.000000	0.71638	0.913000	0.28170	0.922000	0.45779	0.0:1.0:0.0:0.0	17.271	0.86989	788	0.46569	EF-hand domain|EF-hand domain|EF-hand domain|EF-hand domain;.;.;EF-hand domain|EF-hand domain|EF-hand domain|EF-hand domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4013.98	46	chr15	78105833	.	C	T	4013.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.180;DP=1408;ExcessHet=0.0000;FS=1.387;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=-7.240e-01;SOR=0.608	GT:AD:DP:GQ:PL	0/0:225,0:225:99:0,120,1800	20	0	1	0
chr15	78208082	78208082	G	A	exonic	ACSBG1	.	nonsynonymous SNV	ACSBG1:NM_001199377:exon2:c.C152T:p.P51L	.	.	425	1093	3	1	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.002	B	0.004	B	0.876	N	1.000	N	0.345	N	1.65	T	-1.074	T	0.043	T	0.364	2.437	14.11	3.44	2.479	1.552	9.109	0.078	0.00774123739882	0.0002	0.000998403	0.0007	0	0.0004	0	0	0.0003	0.0012	0.0031	0.000511	79	154602	rs138418929	0.0004	0.0004	0.0003	0.0005	0.0038	0.0004	0.0003	0.0035	0.0034	0	0.0002	0.0046	0	0	0.0007	4.947e-05	0.0006	0.0038	0.0003	0.0003	0.0002	0.0004	0.0031	0.0002	0.0002	0.0019	0.0015	0	0	0.0005	0.0046	0	0	0.0034	5.88e-05	0.0005	0.0031	0.151	0.33254	T	0.412	0.14456	T	0.002	0.09854	B	0.004	0.10090	B	0.876012	0.08790	N	0.931581	1	0.19238	N	0.345	0.11182	N	1.65	0.27650	T	-1.2	0.36787	N	0.146	0.14763	-1.0740	0.08556	T	0.043	0.18535	T	10	0.0038167536	0.00072	T	0.007741	0.20536	T	0.078	0.22779	.	.	0.159798565429	0.15598	0.10942297355027707	0.10871	0.352544004537	0.37085	0.237734407187	0.02590	T	0.22147	0.58505	T	-0.484159	0.00700	T	-0.470343	0.25479	T	0.00422052529487909	0.00045	T	0.758824	0.39255	T	0.04349605	0.06788	0.055958584	0.09910	0.04349605	0.06788	0.055958584	0.09910	-3.492	0.16320	T	.	.	0.060	0.03162	B	.;.;.	.;.;.	1.541851	0.19772	14.43	0.97289972523045776	0.33228	0.10572	0.16041	N	AEFDGBI	0.071747	0.14295	N	-0.753785913321296	0.14531	0.7245912	-0.698088635372483	0.17008	0.9024266	0.999990396409947	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.44	3.44	0.38486	1.568000	0.36027	0.862000	0.22237	0.618000	0.50648	0.005000	0.17040	0.000000	0.08366	0.743000	0.35541	0.0:0.0:0.782:0.218	9.109	0.35878	799	0.44747	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1234.98	34	chr15	78208082	.	G	A	1234.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.791;DP=830;ExcessHet=0.0000;FS=2.369;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=-1.851e+00;SOR=0.707	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1235	20	0	1	0
chr15	78234387	78234387	C	T	exonic	ACSBG1	.	nonsynonymous SNV	ACSBG1:NM_001199377:exon1:c.G115A:p.E39K	.	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.079	B	0.034	B	0.018	N	1.000	D	1.1	L	1.6	T	-1.097	T	0.059	T	0.46	2.504	14.33	4.61	2.257	2.084	13.313	0.086	0.0197280280183	.	.	.	.	.	.	.	.	.	.	.	.	.	rs938844722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.30097	T	0.145	0.33000	T	0.079	0.24468	B	0.034	0.22546	B	0.018172	0.27545	N	0.171312	0.999999	0.81001	D	0.69	0.16971	N	1.6	0.28604	T	-0.91	0.24460	N	0.279	0.31590	-1.0967	0.04514	T	0.059	0.24723	T	10	0.06940326	0.09953	T	0.019728	0.42166	T	0.086	0.25016	0.128	0.03331	0.294918367191	0.29099	0.28197531608173415	0.28110	0.381507700472	0.39505	0.34692376852	0.17469	T	0.175513	0.52513	T	-0.12592	0.32158	T	-0.418652	0.31229	T	0.273275834924894	0.23887	T	0.669433	0.27806	T	0.15828823	0.35620	0.13273355	0.31843	0.15828823	0.35620	0.13273355	0.31842	-4.106	0.25379	T	.	.	0.078	0.14015	B	.;.	.;.	2.011891	0.25564	16.81	0.99216230808173511	0.55747	0.16085	0.19224	N	AEFBI	0.124004	0.23987	N	-0.572618754472416	0.19781	1.037898	-0.538595489415071	0.21109	1.14037	0.999964574504183	0.48965	0.653281	0.48532	0	0.624146	0.53433	0	0.675528	0.61593	0	0.542086	0.14980	0	.	.	4.61	4.61	0.56724	2.376000	0.43947	2.563000	0.33324	0.599000	0.40250	0.594000	0.27698	0.023000	0.20922	0.278000	0.23967	0.0:1.0:0.0:0.0	13.313	0.59828	794	0.45591	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	895.98	35	chr15	78234387	.	C	T	895.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.581;DP=791;ExcessHet=0.0000;FS=0.790;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.74;ReadPosRankSum=0.973;SOR=0.556	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1402	20	0	1	0
chr15	78590578	78590578	C	T	exonic	CHRNA5	.	nonsynonymous SNV	CHRNA5:NM_000745:exon5:c.C1187T:p.A396V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.984	D	0.453	P	0.009	N	1.000	D	2.595	M	-0.56	T	-0.086	T	0.397	T	0.827	2.586	14.61	4.79	2.382	7.788	18.264	0.509	0.063446712571	0.0002	.	3.3e-05	0	0	0	0.0002	1.499e-05	0	0.0001	4.53e-05	7	154602	rs143586773	2.463e-05	2.463e-05	1.906e-05	3.025e-05	0.0002	1.803e-05	1.6e-05	9.75e-05	6.95e-05	0.0002	0	0	2.519e-05	3.744e-05	0	8.094e-06	0.0002	3.478e-05	0.0001	0.0001	0.0001	0.0001	0.0003	8.162e-05	6.719e-05	0.0001	0.0001	0.0003	0	0.0002	0	0	0	0	1.47e-05	0.0014	0.0002	0.104	0.29959	T	0.083	0.41405	T	0.984	0.60733	D	0.453	0.46205	P	0.008645	0.30737	N	0.361552	1	0.81001	D	2.73	0.79844	M	-0.56	0.71187	T	-2.44	0.53420	N	0.823	0.81857	-0.0860	0.80418	T	0.397	0.74966	T	10	0.85227966	0.84410	D	0.063447	0.68969	D	0.509	0.78910	.	.	0.723157768034	0.72071	0.7136566219547802	0.71308	0.671977429293	0.59500	0.490918636322	0.37566	T	0.538833	0.84172	D	0.0490942	0.58226	T	0.112179	0.77718	D	0.496172517538071	0.32490	T	0.978702	0.92553	D	0.16573876	0.36865	0.26645216	0.52491	0.16573876	0.36865	0.26645216	0.52490	-6.431	0.49751	T	.	.	0.463	0.62859	A	.	.	3.738894	0.53529	23.4	0.99070490495475083	0.51715	0.98966	0.89286	D	AEFBI	0.899560	0.84409	D	0.426348270494892	0.62877	4.510876	0.345564930572405	0.58242	3.993534	0.999999998310767	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.79	4.79	0.60909	7.688000	0.83438	5.898000	0.50850	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.144000	0.20092	0.0:1.0:0.0:0.0	18.264	0.89985	739	0.53257	Neurotransmitter-gated ion-channel transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2398.98	34	chr15	78590578	.	C	T	2398.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.165;DP=863;ExcessHet=0.0000;FS=1.982;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.63;ReadPosRankSum=-5.620e-01;SOR=0.552	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1409	20	0	1	0
chr15	78601479	78601479	G	A	exonic	CHRNA3	.	nonsynonymous SNV	CHRNA3:NM_000743:exon5:c.C1163T:p.S388F	.	.	264	1247	11	0	0	11	0.00439122	.	.	2125509	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.19	T	0.64	P	0.361	B	0.531	N	0.758	N	1.825	L	-2.03	D	-0.419	T	0.535	D	0.471	0.791	8.166	4.14	0.876	1.732	5.002	0.054	0.146571546547	7.7e-05	0.000199681	0.0005	0	0	0.0001	0	0.0002	0	0.0025	0.0003752	58	154602	rs71581734	0.0002	0.0002	0.0002	0.0003	0.0040	0.0002	0.0002	0.0027	0.0023	0	0.0002	7.652e-05	2.519e-05	0	0.0040	5.935e-05	0.0004	0.0024	0.0001	0.0001	7.712e-05	0.0002	0.0015	8.167e-05	6.724e-05	0.0007	0.0005	2.408e-05	0	0	0	0	0	0.0102	0.0001	0	0.0015	0.07	0.35726	T	0.047	0.60337	D	0.169	0.40395	B	0.123	0.43233	B	0.531325	0.05259	N	1.267660	0.758474	0.29564	N	2.19	0.61577	M	-2.03	0.85613	D	-0.74	0.27052	N	0.332	0.38438	-0.4189	0.71428	T	0.535	0.82810	D	10	0.024365157	0.00667	T	0.146572	0.82867	D	0.427	0.73445	.	.	0.90122744111	0.90024	0.41549495590418367	0.41465	0.501316882173	0.48519	0.310398757458	0.11967	T	0.45943	0.79701	T	-0.26782	0.12002	T	-0.162096	0.58163	T	0.0301175776064321	0.02007	T	0.637136	0.25071	T	0.041916426	0.06261	0.056959487	0.10272	0.041916426	0.06261	0.056959487	0.10271	-4.395	0.29489	T	.	.	0.104	0.24934	B	.;.	.;.	1.927298	0.24478	16.41	0.96269284575240455	0.29244	0.81016	0.40512	D	AEFDGBI	0.187170	0.31446	N	-0.27438276257852	0.30141	1.677881	-0.23068510950844	0.30444	1.714102	0.0912276211917781	0.16129	0.660377	0.49826	0	0.601575	0.49859	0	0.696353	0.63694	0	0.613276	0.41899	0	.	.	6.02	4.14	0.47821	1.644000	0.36844	6.584000	0.56006	-0.132000	0.13132	0.961000	0.33663	1.000000	0.68203	0.064000	0.16252	0.1243:0.1211:0.6292:0.1255	5.002	0.13615	778	0.48011	.;Neurotransmitter-gated ion-channel transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2440.98	37	chr15	78601479	.	G	A	2440.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.90;DP=877;ExcessHet=0.0000;FS=3.307;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=0.531;SOR=0.628	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1270	20	0	1	0
chr15	78763984	78763984	G	A	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon21:c.C4535T:p.A1512V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.458	P	0.073	B	0.533	N	1.000	N	0.895	L	0.14	T	-1.103	T	0.025	T	0.069	-0.020	3.914	0.991	0.287	0.696	4.499	0.021	.	0.0074	0.00738818	0.0067	0.0358	0.0021	0	0	0.0001	0.0091	0.0035	0.0016817	260	154602	rs75987215	0.0009	0.0009	0.0009	0.0008	0.0237	0.0008	0.0008	0.0223	0.0217	0.0237	0.0008	0.0002	2.698e-05	0	0.0040	0.0001	0.0019	0.0020	0.0068	0.0068	0.0070	0.0065	0.0231	0.0064	0.0063	0.0219	0.0214	0.0231	0	0.0022	0	0	0	0	0.0003	0.0043	0.0017	0.323	0.13436	T	0.337	0.18178	T	0.458	0.36312	P	0.073	0.28123	B	0.533001	0.11618	N	0.764757	1	0.08975	N	0.445	0.12748	N	0.14	0.60854	T	-1.09	0.28290	N	0.097	0.07811	-1.1028	0.03768	T	0.025	0.10733	T	10	0.0021345317	0.00031	T	.	.	.	0.021	0.04004	.	.	0.188950314367	0.18478	0.11078912902420956	0.11007	0.229209058529	0.25482	0.52655673027	0.42549	T	0.006541	0.05971	T	-0.581715	0.00188	T	-0.590784	0.13597	T	0.00133222131906342	0.00013	T	0.142486	0.01158	T	0.01902171	0.00427	0.024703963	0.00495	0.01902171	0.00427	0.024703963	0.00495	-5.314	0.40081	T	.	.	0.079	0.07224	B	.	.	1.173294	0.15632	11.99	0.94837349463796161	0.25623	0.05083	0.10879	N	AEFDBI	0.082971	0.16805	N	-0.979009348728995	0.09052	0.4268728	-1.04478461758678	0.08815	0.4353296	0.998600803723963	0.37289	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.699875	0.68795	0	.	.	4.42	0.991	0.18931	0.433000	0.21196	0.089000	0.14491	0.509000	0.23192	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.088:0.1342:0.5361:0.2417	4.499	0.11264	503	0.75780	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	613.33	31	chr15	78763984	.	G	A	613.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-3.310e-01;DP=521;ExcessHet=0.0000;FS=3.256;InbreedingCoeff=-0.0371;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=19.78;ReadPosRankSum=-7.710e-01;SOR=0.260	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,103,1117	19	0	1	1
chr15	78765968	78765968	G	A	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon19:c.C3943T:p.P1315S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87	T	0.051	B	0.01	B	0.341	N	1.000	N	0.55	N	0.32	T	-1.042	T	0.071	T	0.121	0.201	5.081	-0.699	0.171	0.806	1.817	0.035	.	0.0014	.	0.0011	0.0134	0	0.0004	0	0	0.0019	9.096e-05	3.84e-05	1	26028	rs371861563	0.0004	0.0004	0.0005	0.0003	0.0138	0.0004	0.0003	0.0127	0.0123	0.0138	0.0004	0	8.61e-05	0	0.0010	9.038e-06	0.0010	4.687e-05	0.0036	0.0039	0.0037	0.0034	0.0122	0.0033	0.0032	0.0113	0.0110	0.0122	0	0.0014	0	0	0	0	7.355e-05	0.0034	0	0.169	0.22920	T	0.282	0.21545	T	0.051	0.22415	B	0.01	0.14941	B	0.341263	0.13959	N	0.582086	1	0.08975	N	1.795	0.47270	L	0.32	0.58468	T	-2.03	0.46673	N	0.09	0.06854	-1.0417	0.16800	T	0.071	0.28839	T	10	0.0030497313	0.00050	T	.	.	.	0.035	0.08770	.	.	0.12205267543	0.11705	0.29213780244531157	0.29126	0.547174046333	0.51685	0.363506197929	0.19895	T	0.014327	0.12216	T	-0.193208	0.21789	T	-0.515306	0.20772	T	0.0106588920872071	0.00150	T	0.566043	0.20025	T	0.052388974	0.09765	0.07022949	0.14896	0.052388974	0.09764	0.07022949	0.14895	-3.916	0.22542	T	.	.	0.073	0.04517	B	.	.	1.426400	0.18442	13.74	0.36514630999123276	0.02353	0.03716	0.09003	N	AEFGBI	0.056962	0.10572	N	-1.16752523458168	0.05497	0.2507697	-1.19177951379264	0.06046	0.2898677	0.889692412655487	0.25819	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.15	-0.699	0.10709	0.701000	0.25293	1.193000	0.24780	0.509000	0.23192	0.002000	0.15269	0.208000	0.23622	0.039000	0.14166	0.2085:0.1575:0.4735:0.1605	1.817	0.02914	499	0.76092	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	393.98	25	chr15	78765968	.	G	A	393.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.22;DP=841;ExcessHet=0.0000;FS=6.180;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=37.96;MQRankSum=2.08;QD=8.95;ReadPosRankSum=0.257;SOR=1.981	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	20	0	1	0
chr15	78766186	78766186	G	A	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon19:c.C3725T:p.P1242L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.501	P	0.058	B	0.328	N	1.000	N	0.805	L	0.33	T	-1.043	T	0.046	T	0.058	2.445	14.14	2.82	0.661	1.417	8.447	0.057	.	0.0047	0.00399361	0.0015	0.0142	0.0003	0	0	9.471e-05	0.0012	0.0018	0.0013583	210	154602	rs75280199	0.0006	0.0006	0.0006	0.0006	0.0145	0.0006	0.0006	0.0134	0.0130	0.0145	0.0005	0.0002	0	0	0.0042	8.634e-05	0.0013	0.0020	0.0042	0.0042	0.0043	0.0041	0.0141	0.0039	0.0038	0.0132	0.0128	0.0141	0	0.0014	0	0	0	0	0.0002	0.0033	0.0017	0.008	0.58626	D	0.036	0.52060	D	0.501	0.37169	P	0.058	0.26451	B	0.328209	0.04115	N	1.422080	1	0.08975	N	1.525	0.38595	L	0.33	0.58323	T	-2.52	0.54702	D	0.104	0.08786	-1.0426	0.16532	T	0.046	0.19640	T	10	0.0032488406	0.00055	T	.	.	.	0.057	0.16321	.	.	0.225902525712	0.22197	0.2688655116092162	0.26799	0.164542048542	0.18567	0.313453942537	0.12429	T	0.019422	0.15476	T	-0.561453	0.00249	T	-0.567589	0.15671	T	0.0151519719508241	0.00330	T	0.524548	0.17205	T	0.062037773	0.12913	0.061227426	0.11790	0.062037773	0.12912	0.061227426	0.11789	-4.181	0.26476	T	.	.	0.072	0.04356	B	.	.	1.788796	0.22740	15.74	0.981295945556241	0.38506	0.06949	0.12975	N	AEFBI	0.070054	0.13892	N	-0.682071510566079	0.16533	0.8431679	-0.724483505882277	0.16352	0.8646159	0.992707382318904	0.32938	0.743674	0.98306	0	0.588066	0.40923	0	0.630245	0.45026	0	0.562822	0.20929	0	.	.	3.75	2.82	0.32061	0.467000	0.21747	3.058000	0.36148	0.509000	0.23192	0.000000	0.06391	0.257000	0.23957	0.021000	0.11733	0.1163:0.0:0.8837:0.0	8.447	0.32008	499	0.76092	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1086.98	52	chr15	78766186	.	G	A	1086.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.070e-01;DP=1290;ExcessHet=0.0000;FS=3.758;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.75;ReadPosRankSum=0.400;SOR=0.305	GT:AD:DP:GQ:PL	0/0:60,0:60:99:0,120,1800	20	0	1	0
chr15	78766397	78766397	G	A	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon19:c.C3514T:p.P1172S,	.	.	516	1001	5	0	0	5	0.00249128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.941	D	0.046	N	0.979	N	2.19	M	0.27	T	-0.813	T	0.280	T	0.293	2.293	13.62	2.48	1.842	1.786	4.557	0.217	.	.	0.00119808	0.0016	0.0001	9.905e-05	0.0001	0	0.0005	0	0.0102	0.0011966	185	154602	rs534111913	0.0007	0.0007	0.0005	0.0010	0.0082	0.0007	0.0007	0.0077	0.0075	3.007e-05	0.0002	0	0.0001	7.688e-05	0.0044	0.0002	0.0008	0.0082	0.0006	0.0006	0.0005	0.0006	0.0058	0.0005	0.0004	0.0041	0.0036	2.409e-05	0	0.0003	0	0.0002	9.441e-05	0.0102	0.0006	0.0019	0.0058	0.016	0.51853	D	0.402	0.14912	T	0.999	0.77913	D	0.941	0.67658	D	0.045506	0.23530	N	0.417665	0.978759	0.25227	N	1.845	0.48678	L	0.27	0.59176	T	-2.18	0.49187	N	0.091	0.06990	-0.8127	0.54387	T	0.280	0.65199	T	10	0.0049485266	0.00106	T	.	.	.	0.217	0.51112	.	.	0.575545942349	0.57224	0.521478241779319	0.52070	0.397283292821	0.40821	0.426085174084	0.28673	T	0.011308	0.10105	T	-0.433382	0.01415	T	-0.390735	0.34465	T	0.0198571186037904	0.00687	T	0.69603	0.30552	T	0.07532834	0.16965	0.07351539	0.15982	0.07532834	0.16965	0.07351539	0.15982	-4.719	0.33634	T	.	.	0.086	0.10594	B	.	.	2.867133	0.37901	20.6	0.99756715869698265	0.84694	0.69872	0.34361	D	AEFBI	0.094151	0.19040	N	0.357391490684132	0.59129	4.090048	0.233415795443442	0.51710	3.351313	0.00889488861517146	0.11760	0.743674	0.98306	0	0.547309	0.14657	0	0.630245	0.45026	0	0.562822	0.20929	0	.	.	3.42	2.48	0.29194	-0.054000	0.11783	3.145000	0.36500	0.509000	0.23192	0.000000	0.06391	0.986000	0.30841	0.211000	0.22211	0.2503:0.0:0.7497:0.0	4.557	0.11539	499	0.76092	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	736.98	52	chr15	78766397	.	G	A	736.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.67;DP=957;ExcessHet=0.0000;FS=4.138;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.74;MQRankSum=-5.637e+00;QD=13.40;ReadPosRankSum=-2.350e-01;SOR=0.306	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,105,1257	20	0	1	0
chr15	78768226	78768226	C	T	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon17:c.G2552A:p.R851Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.034	B	0.015	B	0.569	N	1.000	N	0.63	N	0.68	T	-1.083	T	0.026	T	0.018	1.324	10.34	-9.34	-2.163	-1.012	15.261	0.093	.	0.0058	0.00419329	0.0016	0.0145	0.0004	0	0	0.0002	0.0013	0.0022	0.0013907	215	154602	rs76539006	0.0007	0.0007	0.0007	0.0007	0.0144	0.0007	0.0006	0.0133	0.0129	0.0144	0.0005	0.0002	0	0	0.0041	0.0002	0.0014	0.0020	0.0042	0.0042	0.0044	0.0041	0.0141	0.0040	0.0039	0.0132	0.0128	0.0141	0	0.0014	0	0	0	0	0.0003	0.0033	0.0019	0.175	0.22400	T	0.118	0.36233	T	0.034	0.20480	B	0.015	0.17295	B	0.568646	0.11261	N	0.764030	1	0.08975	N	1.05	0.26816	L	0.68	0.51952	T	-1.2	0.30555	N	0.124	0.11626	-1.0833	0.06720	T	0.026	0.11309	T	10	0.0033400953	0.00058	T	.	.	.	0.093	0.26882	.	.	0.261217442401	0.25729	0.16482537378099146	0.16402	0.194208701575	0.21755	0.334912896156	0.15674	T	0.007525	0.06930	T	-0.688373	0.00043	T	-0.7499	0.03489	T	0.00561016055144118	0.00061	T	0.534647	0.17878	T	0.024297126	0.01248	0.04423087	0.05683	0.024297126	0.01247	0.04423087	0.05683	-5.958	0.45926	T	.	.	0.062	0.01271	B	.	.	0.067616	0.04768	1.387	0.93710230648541948	0.23627	0.00431	0.02113	N	AEFBI	0.043629	0.06919	N	-1.65791353338969	0.01002	0.04344159	-1.77951489123449	0.00827	0.03693191	0.999990664711946	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.26897	0.05253	2	0.613276	0.41899	0	.	.	4.67	-9.34	0.00539	-0.945000	0.04019	-5.610000	0.01657	-2.236000	0.00342	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.5855:0.0:0.4145	15.261	0.73323	495	0.76383	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1431.98	36	chr15	78768226	.	C	T	1431.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=827;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=1.59;SOR=0.761	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr15	78774723	78774723	G	A	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon12:c.C1777T:p.P593S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.954	P	0.548	P	0.004	N	0.999	D	3.055	M	3.17	T	-1.010	T	0.051	T	0.326	1.852	12.15	3.51	1.986	3.564	14.273	0.122	.	.	.	0.0369	0.0305	0.0258	0.0477	0.0263	0.0318	0.0538	0.0687	0.0004592	71	154602	rs201460425	0.0025	0.0043	0.0025	0.0024	0.0072	0.0024	0.0024	0.0065	0.0062	0.0072	0.0020	0.0007	0.0023	0.0021	0.0007	0.0026	0.0026	0.0006	0.0049	0.0091	0.0050	0.0048	0.0096	0.0046	0.0045	0.0088	0.0085	0.0096	0.0022	0.0028	0.0003	0.0032	0.0025	0	0.0036	0.0059	0.0004	0.053	0.38863	T	0.212	0.26549	T	0.954	0.54400	P	0.548	0.49136	P	0.004364	0.33816	N	0.281918	0.998507	0.45007	D	.	.	.	3.17	0.07599	T	-4.92	0.81675	D	0.169	0.17966	-1.0095	0.27074	T	0.051	0.21572	T	10	0.005546659	0.00123	T	.	.	.	0.122	0.33800	.	.	.	.	0.5780229630897993	0.57731	0.324340639532	0.34596	0.60536634922	0.53662	T	0.086728	0.37789	T	-0.159542	0.26830	T	-0.466948	0.25846	T	0.0377478931602939	0.03289	T	0.70113	0.31087	T	0.11712926	0.27617	0.21822624	0.46517	0.11712926	0.27617	0.21822624	0.46516	-9.579	0.71350	D	.	.	0.104	0.18705	B	.	.	4.092474	0.60962	24.3	0.99409108751348974	0.63169	0.92631	0.56167	D	AEFGBI	0.572820	0.57625	D	0.210878814688326	0.51724	3.351574	0.168724245452525	0.48142	3.034236	0.999570346407743	0.40495	0.732398	0.92422	0	0.588015	0.36545	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	3.51	3.51	0.39297	3.810000	0.55318	6.276000	0.55373	0.505000	0.23025	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.0:0.0:1.0:0.0	14.273	0.65712	496	0.76301	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	446.98	44	chr15	78774723	.	G	A	446.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=6.18;DP=1094;ExcessHet=0.0000;FS=21.514;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.16;MQRankSum=-1.109e+01;QD=3.44;ReadPosRankSum=0.969;SOR=3.975	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:72,0:72:99:.:.:0,120,1800	20	0	1	0
chr15	78800271	78800271	G	A	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon2:c.C377T:p.P126L,	.	.	429	1092	1	0	0	1	0.000457666	.	.	2814405	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.19	T	0.203	B	0.029	B	0.798	N	1.000	N	1.65	L	3.38	T	-1.037	T	0.022	T	0.276	0.098	4.527	3.76	2.095	0.188	14.687	0.112	0.0143355731595	0.0013	0.00119808	0.0029	0.0008	0.0022	0	0.0016	0.0040	0.0014	0.0022	0.0023609	365	154602	rs61754850	0.0031	0.0031	0.0031	0.0031	0.0035	0.0030	0.0030	0.0034	0.0034	0.0004	0.0011	0.0045	0	0.0009	0.0002	0.0035	0.0028	0.0024	0.0021	0.0021	0.0022	0.0020	0.0038	0.0019	0.0019	0.0034	0.0032	0.0007	0	0.0007	0.0032	0	0.0003	0	0.0038	0.0014	0.0027	0.038	0.42783	D	0.088	0.40586	T	0.203	0.29776	B	0.029	0.21540	B	0.797685	0.09348	N	0.910047	1	0.08975	N	1.675	0.43121	L	3.38	0.05778	T	-4.26	0.76174	D	0.247	0.27910	-1.0374	0.18109	T	0.022	0.09284	T	10	0.008744389	0.00198	T	0.014336	0.34391	T	0.112	0.31546	.	.	0.474643619859	0.47091	0.48952274910169474	0.48872	0.200827059013	0.22483	0.688226163387	0.65451	T	0.031088	0.21883	T	-0.565788	0.00234	T	-0.584401	0.14154	T	0.0443665306092564	0.04486	T	0.446155	0.12501	T	0.10231262	0.24175	0.10287422	0.24668	0.10231262	0.24175	0.10287422	0.24667	-5.037	0.37239	T	.	.	0.089	0.12084	B	.	.	1.179933	0.15702	12.04	0.80685856799656974	0.13320	0.15787	0.19081	N	AEFDBI	0.106886	0.21312	N	-0.660229358954852	0.17163	0.8808279	-0.702048938662317	0.16909	0.8967393	0.763175771759835	0.23544	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.76	3.76	0.42368	0.014000	0.13228	3.323000	0.37562	-0.109000	0.15193	0.000000	0.06391	0.999000	0.35428	0.000000	0.00833	0.0:0.0:1.0:0.0	14.687	0.68662	590	0.68897	Peptidase M12B, propeptide	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2174.98	40	chr15	78800271	.	G	A	2174.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.222;DP=2057;ExcessHet=0.0000;FS=4.682;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.65;MQRankSum=2.91;QD=13.43;ReadPosRankSum=-7.020e-01;SOR=0.412	GT:AD:DP:GQ:PL	0/0:115,0:115:99:0,120,1800	20	0	1	0
chr15	79456353	79456353	T	G	exonic	MINAR1	.	nonsynonymous SNV	MINAR1:NM_015206:exon2:c.T206G:p.M69R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998	D	0.896	P	0.000	D	1.000	D	2.075	M	1.57	T	-0.890	T	0.167	T	0.943	3.785	19.22	5.66	2.151	4.550	15.878	0.277	0.0601766976881	.	0.000199681	9.062e-05	0	8.639e-05	0	0	1.499e-05	0	0.0005	7.76e-05	12	154602	rs573865001	4.72e-05	4.72e-05	2.45e-05	7.013e-05	0.0008	3.793e-05	3.476e-05	0.0006	0.0006	0	0	0	0	0	0	8.993e-07	1.656e-05	0.0008	2.626e-05	2.625e-05	1.285e-05	4.028e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.001	0.78490	D	0.004	0.74150	D	.	.	.	.	.	.	0.000003	0.62929	D	0.138647	1	0.81001	D	.	.	.	1.57	0.29342	T	-5.5	0.85844	D	0.932	0.93723	-0.8899	0.48943	T	0.167	0.50518	T	9	0.51414466	0.62268	D	0.060177	0.67912	D	0.277	0.59375	0.365	0.37199	0.289474373501	0.28556	0.6993729882756442	0.69878	0.146246402447	0.16512	0.694868147373	0.66404	T	.	.	.	-0.0598555	0.42931	T	0.0438378	0.73179	D	0.499938249588013	0.32627	T	0.844016	0.52137	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.752	0.75132	P	.	.	2.849099	0.37614	20.5	0.98627759084571587	0.43866	0.97093	0.72648	D	AEFBI	0.656960	0.62876	D	0.614981993653112	0.74122	6.079253	0.615455992739756	0.76063	6.422312	0.999998085207384	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.66	5.66	0.87293	4.532000	0.60321	1.059000	0.23704	-0.184000	0.09925	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.878	0.78960	951	0.11083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2981.98	33	chr15	79456353	.	T	G	2981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.507;DP=915;ExcessHet=0.0000;FS=3.003;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.49;ReadPosRankSum=0.845;SOR=0.646	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1374	20	0	1	0
chr15	79463092	79463092	C	T	exonic	MINAR1	.	nonsynonymous SNV	MINAR1:NM_015206:exon3:c.C2324T:p.P775L,	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	B	0.11	B	0.128	N	0.971	D	0	N	0.86	T	-1.084	T	0.055	T	0.161	1.529	11.06	3.05	1.133	2.873	7.162	0.081	0.0130803287656	.	0.000399361	0.0002	0	8.657e-05	0	0	3.007e-05	0	0.0010	0.0001358	21	154602	rs577670709	5.952e-05	5.951e-05	2.178e-05	9.765e-05	0.0009	4.883e-05	4.562e-05	0.0007	0.0007	0	0	0	0	0	0.0002	6.296e-06	3.312e-05	0.0009	5.252e-05	5.249e-05	3.854e-05	6.712e-05	0.0014	2.555e-05	1.829e-05	0.0007	0.0005	0	0	0	0	0	0	0	1.47e-05	0	0.0014	0.115	0.28520	T	0.338	0.18125	T	.	.	.	.	.	.	0.127884	0.18751	N	0.594645	0.970839	0.38827	D	.	.	.	0.86	0.46777	T	-4.71	0.79915	D	0.343	0.38438	-1.0841	0.06572	T	0.055	0.23300	T	9	0.031481206	0.01284	T	0.01308	0.32199	T	0.081	0.23632	0.614	0.74768	0.276482976112	0.27267	0.20327638799426895	0.20244	0.0963971141014	0.10881	0.443109542131	0.31002	T	.	.	.	-0.474462	0.00797	T	-0.510656	0.21248	T	0.303259521722794	0.25138	T	0.879712	0.59601	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.06710	B	.	.	2.007262	0.25502	16.79	0.88221813177776975	0.17809	0.64219	0.32337	D	AEFDBHCI	0.180768	0.30808	N	-0.395905690537063	0.25614	1.391768	-0.294444021123059	0.28282	1.57576	0.621958974853711	0.21893	0.533608	0.22052	0	0.588015	0.36545	0	0.685742	0.62368	0	0.836244	0.99985	0	.	.	5.16	3.05	0.34272	2.897000	0.48363	2.065000	0.30414	0.599000	0.40250	0.998000	0.41325	0.157000	0.23230	0.802000	0.37819	0.4371:0.4452:0.1177:0.0	7.162	0.24847	951	0.11083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1255.98	34	chr15	79463092	.	C	T	1255.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.260e-01;DP=797;ExcessHet=0.0000;FS=0.719;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=-3.730e-01;SOR=0.817	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1239	20	0	1	0
chr15	80924679	80924679	G	A	exonic	CEMIP	.	nonsynonymous SNV	CEMIP:NM_018689:exon17:c.G2261A:p.R754Q	.	.	423	1098	1	0	0	1	0.000455166	.	.	3304023	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.23	T	1.0	D	0.992	D	0.000	D	0.985	D	1.48	L	0.46	T	-0.649	T	0.266	T	0.676	3.782	19.20	4.19	1.257	9.063	15.855	0.376	0.0377569364167	7.7e-05	0.000199681	6.62e-05	0	0	0	0	0.0001	0	0	6.47e-05	10	154602	rs202038667	8.414e-05	8.482e-05	7.895e-05	8.938e-05	0.0007	7.203e-05	6.75e-05	0.0002	0.0001	0	2.236e-05	0	0	0	0.0007	9.982e-05	8.279e-05	2.319e-05	9.851e-05	9.842e-05	0.0001	9.401e-05	0.0002	6.004e-05	4.877e-05	7.873e-05	5.576e-05	0.0002	0	6.534e-05	0	0	0	0.0068	7.351e-05	0	0	0.115	0.28520	T	0.088	0.40586	T	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.985283	0.40262	D	1.585	0.39878	L	0.46	0.56281	T	-2.89	0.60665	D	0.927	0.93135	-0.6488	0.62767	T	0.266	0.63781	T	10	0.70393586	0.72618	D	0.037757	0.57812	D	0.376	0.69443	.	.	0.624915994163	0.62186	0.7637398637268005	0.76321	1.24940525845	0.81764	0.676162958145	0.63719	T	0.124443	0.44948	T	-0.108502	0.35015	T	-0.129203	0.61040	T	0.562284111976624	0.34941	D	0.936606	0.76191	D	0.39122814	0.60119	0.31082886	0.57092	0.39122814	0.60119	0.31082886	0.57091	-9.342	0.69871	D	.	.	0.441	0.61957	A	.;.;.	.;.;.	5.249469	0.88136	29.5	0.99904262459358795	0.97502	0.98317	0.81569	D	AEFBCI	0.848800	0.76562	D	0.352495714801279	0.58870	4.06215	0.319004360094115	0.56656	3.829386	0.999999999268535	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.664235	0.64389	0	.	.	5.12	4.19	0.48645	9.165000	0.93915	11.646000	0.93836	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.874000	0.41677	0.0:0.1364:0.8636:0.0	15.855	0.78748	952	0.10565	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1704.98	37	chr15	80924679	.	G	A	1704.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.700e-02;DP=814;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.83;ReadPosRankSum=-2.740e-01;SOR=0.753	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1183	20	0	1	0
chr15	80941946	80941946	C	G	exonic	CEMIP	.	nonsynonymous SNV	CEMIP:NM_018689:exon25:c.C3505G:p.P1169A	.	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.988	D	0.696	P	0.000	D	0.999	D	1.79	L	1.07	T	-1.010	T	0.091	T	0.295	2.649	14.82	5.76	2.720	7.169	19.950	0.176	.	0.0012	0.00319489	0.0029	0.0004	0.0005	0.0187	0.0006	0.0022	0.0044	0.0017	0.0026196	405	154602	rs16972583	0.0020	0.0020	0.0020	0.0021	0.0196	0.0020	0.0019	0.0185	0.0180	0.0001	0.0005	0.0039	0.0196	0.0008	0	0.0015	0.0021	0.0020	0.0017	0.0017	0.0017	0.0016	0.0180	0.0015	0.0014	0.0151	0.0140	0.0003	0	0.0005	0.0032	0.0180	0.0008	0	0.0016	0.0005	0.0019	0.39	0.10838	T	0.263	0.22828	T	0.988	0.62325	D	0.696	0.54017	P	0.000000	0.84330	D	0.000000	0.998697	0.45291	D	2.2	0.62015	M	1.07	0.39586	T	-1.49	0.36385	N	0.787	0.79214	-1.0095	0.27074	T	0.091	0.34928	T	10	0.0049253404	0.00105	T	.	.	.	0.176	0.44373	.	.	0.482500522706	0.47881	0.6980729888512734	0.69748	1.14086051484	0.78920	0.456891417503	0.32885	T	0.108134	0.42092	T	-0.454302	0.01065	T	-0.407764	0.32482	T	0.0462701278855304	0.04833	T	0.920308	0.71149	D	0.09519161	0.22398	0.20924327	0.45261	0.09519161	0.22398	0.20924327	0.45260	-4.297	0.28135	T	.	.	0.158	0.34840	B	.;.;.	.;.;.	3.465983	0.48328	22.6	0.99029114659797246	0.50764	0.98430	0.82696	D	AEFDBI	0.743409	0.68672	D	0.357304827265003	0.59126	4.089541	0.340383280896566	0.57929	3.960843	0.999999997623724	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.463624	0.06942	0	0.491896	0.07777	0	.	.	5.76	5.76	0.90726	7.251000	0.77723	5.681000	0.49295	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:1.0:0.0:0.0	19.950	0.97198	958	0.09170	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1232.98	37	chr15	80941946	.	C	G	1232.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.00;DP=873;ExcessHet=0.0000;FS=0.693;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.72;ReadPosRankSum=-5.850e-01;SOR=0.605	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1196	20	0	1	0
chr15	80979281	80979281	C	T	exonic	MESD	.	nonsynonymous SNV	MESD:NM_015154:exon3:c.G643A:p.D215N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.003	B	0.005	B	0.735	N	1.000	N	0.205	N	.	.	-1.012	T	0.063	T	0.022	2.518	14.38	1.12	0.198	0.633	7.887	0.043	0.00374647076671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.23007	T	0.033	0.53072	D	0.003	0.11197	B	0.005	0.11217	B	0.735015	0.06393	N	1.113020	1	0.08975	N	0.69	0.16971	N	.	.	.	-0.65	0.18877	N	0.07	0.04307	-1.0125	0.26133	T	0.063	0.26172	T	9	0.06306937	0.08161	T	0.003746	0.08682	T	0.043	0.11576	0.339	0.32979	0.128874641272	0.12493	0.09925729230670419	0.09856	0.150817111893	0.17009	0.336606562138	0.15930	T	0.174057	0.52315	T	-0.302098	0.08464	T	-0.671719	0.07498	T	0.096747561527059	0.11995	T	0.676232	0.28483	T	0.095348746	0.22439	0.046599172	0.06530	0.095348746	0.22438	0.046599172	0.06530	-3.729	0.19747	T	.	.	0.065	0.01884	B	.;.	.;.	1.688363	0.21515	15.23	0.98883705611896733	0.47877	0.35702	0.25363	N	AEFBI	0.116050	0.22792	N	-0.886794806833915	0.11156	0.5368538	-0.856471271489746	0.13132	0.6795677	0.996541291354058	0.34819	0.722319	0.85440	0	0.702456	0.74545	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.07	1.12	0.19700	0.657000	0.24647	-0.506000	0.08774	0.599000	0.40250	0.228000	0.24622	0.000000	0.08366	0.237000	0.22922	0.0:0.6053:0.0:0.3947	7.887	0.28822	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	35.98	38	chr15	80979281	.	C	T	35.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.182e+00;DP=1037;ExcessHet=0.0000;FS=73.983;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.42;ReadPosRankSum=3.15;SOR=6.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1119	20	0	1	0
chr15	81300063	81300063	G	A	exonic	IL16	.	nonsynonymous SNV	IL16:NM_004513:exon2:c.G634A:p.E212K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.084	B	0.01	B	0.223	N	1.000	N	0.77	N	3.27	T	-1.019	T	0.025	T	0.286	2.203	13.32	3.41	1.032	1.562	12.363	0.027	0.0064358435196	.	.	9.199e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs776312860	6.365e-06	6.84e-06	5.594e-06	7.153e-06	9.426e-05	3e-06	2.17e-06	2.497e-05	1.292e-05	9.426e-05	2.642e-05	0	0	0	0	3.669e-06	1.719e-05	0	1.972e-05	1.97e-05	1.285e-05	2.691e-05	7.243e-05	5.24e-06	2.45e-06	1.92e-05	1.032e-05	7.243e-05	0	0	0	0	0	0	0	0	0	0.107	0.31532	T	0.672	0.06265	T	0.036	0.21998	B	0.006	0.12133	B	0.223104	0.16092	N	0.524360	1	0.08975	N	0.785	0.19527	N	2.67	0.12575	T	-1.54	0.40274	N	0.114	0.10198	-1.0192	0.23975	T	0.025	0.10553	T	10	0.07611278	0.11850	T	0.006436	0.16927	T	0.027	0.05988	0.215	0.13498	0.115124310173	0.11017	0.21934208993019821	0.21850	0.125504674622	0.14151	0.391204237938	0.23839	T	0.183089	0.53531	T	-0.375545	0.03323	T	-0.592577	0.13443	T	0.0396013639958718	0.03619	T	0.705629	0.31596	T	0.072976254	0.16274	0.06451139	0.12940	0.072976254	0.16274	0.06451139	0.12940	-4.076	0.26679	T	.	.	0.076	0.10931	B	.;.;.	.;.;.	1.355620	0.17637	13.28	0.98396977539323716	0.41020	0.29975	0.23962	N	AEFDGBHCI	.	.	.	-0.805465385257051	0.13170	0.6469491	-0.810531796448373	0.14240	0.743067	0.999999992965173	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.33	3.41	0.38145	0.931000	0.28471	0.602000	0.19937	0.676000	0.76740	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	0.0827:0.0:0.9173:0.0	12.363	0.54540	812	0.42537	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1609.98	34	chr15	81300063	.	G	A	1609.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.30;DP=941;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=1.36;SOR=0.689	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1150	20	0	1	0
chr15	82282298	82282298	T	G	exonic	SAXO2	.	nonsynonymous SNV	SAXO2:NM_001348704:exon2:c.T208G:p.F70V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.999	D	0.000	D	1.000	D	2.25	M	1.99	T	-0.921	T	0.129	T	0.837	3.339	17.24	3.34	1.751	4.807	12.754	0.358	0.0140640814227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.133	0.34359	T	1.0	0.90584	D	0.999	0.92359	D	0.000032	0.55875	D	0.071669	0.999952	0.52396	D	.	.	.	1.99	0.21666	T	-4.13	0.75139	D	0.638	0.65074	-0.9213	0.45376	T	0.129	0.43828	T	10	0.78151894	0.77894	D	0.014064	0.33919	T	0.358	0.67872	0.664	0.80199	0.40417439687	0.40030	0.6648960054167538	0.66426	0.528546828788	0.50433	0.571922659874	0.48950	T	0.347323	0.71546	T	0.167437	0.70887	D	0.00273504	0.70513	D	0.997172057628632	0.90938	D	0.69643	0.30590	T	0.6054719	0.72985	0.54754156	0.73843	0.6054719	0.72986	0.54754156	0.73844	-9.174	0.68810	D	.	.	0.293	0.52451	B	.	.	4.091771	0.60950	24.3	0.98999594610067299	0.50127	0.86008	0.45212	D	AEFGBCI	0.602310	0.59422	D	0.44255478903636	0.63780	4.618664	0.316426336314	0.56504	3.813887	0.999941356689287	0.47345	0.422189	0.06491	0	0.600433	0.49495	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	3.34	3.34	0.37357	4.789000	0.62139	7.386000	0.58483	0.488000	0.22294	1.000000	0.71638	1.000000	0.68203	0.791000	0.37352	0.0:0.0:0.0:1.0	12.754	0.56699	821	0.40814	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4066.98	34	chr15	82282298	.	T	G	4066.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.600e-01;DP=1036;ExcessHet=0.0000;FS=0.452;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.71;MQRankSum=1.14;QD=15.41;ReadPosRankSum=1.32;SOR=0.746	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1270	20	0	1	0
chr15	82344827	82344827	G	A	exonic	GOLGA6L10	.	nonsynonymous SNV	GOLGA6L10:NM_001164465:exon6:c.C1033T:p.R345W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	.	.	.	.	.	.	1.000	N	0.805	L	1.79	T	-1.009	T	0.044	T	0.194	0.648	7.480	0.455	0.544	-2.954	4.285	0.011	0.0016413499122	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1396477996	8.394e-05	0.0002	7.575e-05	9.233e-05	0.0004	7.122e-05	6.628e-05	0.0003	0.0002	0.0003	0.0003	0	0.0001	0	0	4.915e-05	0.0002	0.0004	0.0002	0.0004	0.0002	0.0001	0.0003	0.0001	8.766e-05	0.0002	0.0001	0.0003	0	0.0002	0	0	9.459e-05	0	0.0001	0	0.0002	.	.	.	0.055	0.46862	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.22614	.	.	.	.	.	.	.	0.08761579	0.15008	T	0.005078	0.12877	T	.	.	.	.	0.0401082797425	0.02173	0.05652322472568306	0.05593	.	.	0.49829107523	0.38590	T	0.024497	0.18499	T	-0.224125	0.17434	T	-0.559717	0.16404	T	.	.	.	0.635136	0.24942	T	0.09370802	0.22014	0.07749168	0.17268	0.09370802	0.22014	0.07749168	0.17267	-4.342	0.28761	T	.	.	0.112	0.34732	B	.;.;.	.;.;.	1.532841	0.19665	14.38	0.87300218615592506	0.17129	0.01099	0.04035	N	AEFI	0.070640	0.14031	N	.	.	.	.	.	.	1.27511258221004E-4	0.05386	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	.	.	.	-2.567000	0.00991	0.017000	0.13531	0.168000	0.17747	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.001:0.0:0.999:0.0	5.818	0.17765	799	0.44747	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	219.98	37	chr15	82344827	.	G	A	219.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.79;DP=910;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=40.07;MQRankSum=-1.356e+00;QD=2.65;ReadPosRankSum=-1.006e+00;SOR=0.588	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,101,1800	20	0	1	0
chr15	82344935	82344935	G	0	exonic	GOLGA6L10	.	.	.	.	.	531	861	98	1	31	131	0.0548847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	326.23	37	chr15	82344935	.	G	A,*	326.23	.	AC=1,5;AF=0.025,0.125;AN=40;DP=1617;ExcessHet=1.8958;FS=22.164;InbreedingCoeff=-0.0857;MLEAC=1,5;MLEAF=0.025,0.125;MQ=34.00;QD=0.61;SOR=1.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:73,0,38:111:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:808,1027,3710,0,2683,2556:82344920	14	0	1	1
chr15	82344942	82344942	T	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	976.39	35	chr15	82344942	.	T	C,*	976.39	.	AC=2,5;AF=0.125,0.313;AN=16;BaseQRankSum=2.59;DP=1794;ExcessHet=0.5718;FS=29.828;InbreedingCoeff=-0.0755;MLEAC=4,9;MLEAF=0.250,0.563;MQ=47.54;MQRankSum=-4.628e+00;QD=1.84;ReadPosRankSum=1.21;SOR=1.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:73,0,38:111:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:808,1027,3710,0,2683,2556:82344920	2	1	0	13
chr15	82344983	82344983	A	0	exonic	GOLGA6L10	.	.	.	.	.	756	655	109	0	2	111	0.0768147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	49.01	27	chr15	82344983	.	A	*,G	49.01	.	AC=5,1;AF=0.167,0.033;AN=30;BaseQRankSum=-9.670e-01;DP=1596;ExcessHet=0.1504;FS=28.441;InbreedingCoeff=0.0481;MLEAC=6,1;MLEAF=0.200,0.033;MQ=38.57;MQRankSum=0.118;QD=0.10;ReadPosRankSum=-5.820e-01;SOR=1.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,38,0:111:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:808,0,2556,1027,2683,3710:82344920	10	0	4	6
chr15	82344984	82344984	C	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	48.58	9	chr15	82344984	.	C	*,T	48.58	.	AC=6,1;AF=0.188,0.031;AN=32;BaseQRankSum=-9.670e-01;DP=1652;ExcessHet=0.3087;FS=24.087;InbreedingCoeff=-0.0422;MLEAC=7,1;MLEAF=0.219,0.031;MQ=46.42;MQRankSum=0.118;QD=0.08;ReadPosRankSum=-4.680e-01;SOR=1.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,38,0:111:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:808,0,2556,1027,2683,3710:82344920	10	0	5	5
chr15	82345004	82345046	ATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	718.55	4	chr15	82345004	.	ATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG	*,A,GTAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG	718.55	.	AC=4,1,1;AF=0.200,0.050,0.050;AN=20;BaseQRankSum=1.91;DP=1733;ExcessHet=2.6804;FS=27.756;InbreedingCoeff=-0.1646;MLEAC=7,2,2;MLEAF=0.350,0.100,0.100;MQ=47.51;MQRankSum=-6.640e+00;QD=1.18;ReadPosRankSum=-1.278e+00;SOR=1.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,38,0,0:111:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:808,0,2556,1027,2683,3710,1027,2683,3710,3710:82344920	4	0	4	11
chr15	82345005	82345005	T	0	exonic	GOLGA6L10	.	.	.	.	.	50	129	12	1	34	48	0.0514706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2308	40.9	8	chr15	82345005	.	T	C,*	40.9	.	AC=1,5;AF=0.038,0.192;AN=26;BaseQRankSum=0.967;DP=1706;ExcessHet=2.4752;FS=28.441;InbreedingCoeff=-0.0786;MLEAC=1,7;MLEAF=0.038,0.269;MQ=32.71;MQRankSum=0.00;QD=0.07;ReadPosRankSum=-9.670e-01;SOR=1.557	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:73,0,38:111:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:808,1027,3710,0,2683,2556:82344920	7	0	1	8
chr15	82345025	82345025	G	0	exonic	GOLGA6L10	.	.	.	.	.	642	820	47	0	13	60	0.0278601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	307.4	24	chr15	82345025	.	G	A,*	307.4	.	AC=1,5;AF=0.026,0.132;AN=38;DP=1749;ExcessHet=2.0135;FS=30.096;InbreedingCoeff=-0.1941;MLEAC=1,5;MLEAF=0.026,0.132;MQ=37.25;QD=0.49;SOR=1.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:73,0,38:111:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:808,1027,3710,0,2683,2556:82344920	13	0	1	2
chr15	82345026	82345110	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	0	exonic	GOLGA6L10	.	.	.	.	.	637	825	3	0	57	60	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	1003.57	118	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*,T	1003.57	.	AC=6,3;AF=0.158,0.079;AN=38;BaseQRankSum=1.42;DP=2239;ExcessHet=1.1637;FS=1.330;InbreedingCoeff=-0.0364;MLEAC=6,3;MLEAF=0.158,0.079;MQ=40.84;MQRankSum=0.975;QD=1.08;ReadPosRankSum=-1.194e+00;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,49,10:178:99:1|0:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:1033,0,3564,1367,3683,9072:82344920	11	0	5	2
chr15	82345027	82345110	AGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	-	exonic	GOLGA6L10	.	nonframeshift deletion	GOLGA6L10:NM_001164465:exon6:c.750_833del:p.R286_L313del	.	.	637	825	3	0	57	60	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0017	0.0007	0.0007	0.0028	0.0007	0.0006	0.0020	0.0017	0.0007	0.0010	0.0026	0.0028	0.0016	0.0008	0.0006	0.0014	0.0005	0.0006	0.0016	0.0005	0.0007	0.0028	0.0004	0.0004	0.0011	0.0007	0.0005	0	0.0003	0.0005	0	0.0017	0	0.0004	0.0010	0.0028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	1003.57	118	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*,T	1003.57	.	AC=6,3;AF=0.158,0.079;AN=38;BaseQRankSum=1.42;DP=2239;ExcessHet=1.1637;FS=1.330;InbreedingCoeff=-0.0364;MLEAC=6,3;MLEAF=0.158,0.079;MQ=40.84;MQRankSum=0.975;QD=1.08;ReadPosRankSum=-1.194e+00;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,49,10:178:99:1|0:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:1033,0,3564,1367,3683,9072:82344920	11	0	5	2
chr15	82345087	82345087	C	0	exonic	GOLGA6L10	.	.	.	.	.	748	741	8	0	25	33	0.00536913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	1995.03	118	chr15	82345087	.	C	T,*	1995.03	.	AC=3,4;AF=0.083,0.111;AN=36;BaseQRankSum=0.682;DP=2432;ExcessHet=2.7391;FS=0.630;InbreedingCoeff=-0.2500;MLEAC=3,4;MLEAF=0.083,0.111;MQ=38.42;MQRankSum=-1.259e+00;QD=2.52;ReadPosRankSum=-2.066e+00;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,41,10:170:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:753,0,3619,977,3595,7129:82344920	11	0	3	3
chr15	82345868	82345868	T	A	exonic	GOLGA6L10	.	nonsynonymous SNV	GOLGA6L10:NM_001164465:exon5:c.A374T:p.H125L	.	.	446	1074	2	0	0	2	0.000930233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	N	1.04	L	2.35	T	-0.998	T	0.030	T	0.291	-0.373	2.243	-0.218	-1.195	0.341	.	0.029	0.000489679225593	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1267183438	0.0003	0.0006	0.0003	0.0003	0.0115	0.0003	0.0003	0.0106	0.0102	3.275e-05	2.772e-05	0	0.0115	0	0	9.378e-07	0.0004	1.26e-05	0.0003	0.0005	0.0003	0.0003	0.0072	0.0003	0.0002	0.0054	0.0047	0.0003	0	6.536e-05	0	0.0072	0	0	0	0	0	.	.	.	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.26354	.	.	.	.	.	.	.	0.02086401	0.00488	T	0.001025	0.01120	T	.	.	.	.	0.0401082797425	0.02173	0.010448428123173531	0.01005	.	.	0.774800240993	0.78144	T	0.037533	0.24511	T	-0.22965	0.16695	T	-0.567653	0.15665	T	.	.	.	0.49985	0.15613	T	0.10348301	0.24460	0.15875788	0.37059	0.10348301	0.24460	0.15875788	0.37058	-1.8	0.02509	T	.	.	0.132	0.28464	B	.;.;.	.;.;.	-0.475100	0.01948	0.167	0.65685876870735671	0.07843	0.06216	0.12203	N	AEFI	0.032911	0.03808	N	.	.	.	.	.	.	1.09504484601568E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	0.331000	0.19477	-3.059000	0.03098	-3.410000	0.00088	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	.	.	.	804	0.43891	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	406.02	35	chr15	82345868	.	T	A	406.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=822;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.024;MQ=46.16;MQRankSum=1.56;QD=3.10;ReadPosRankSum=-1.887e+00;SOR=0.601	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1284	20	0	1	0
chr15	82436358	82436358	T	G	exonic	GOLGA6L9	.	nonsynonymous SNV	GOLGA6L9:NM_001291420:exon8:c.T772G:p.C258G	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.938	P	0.607	P	.	.	1.000	N	0.895	L	1.23	T	-1.039	T	0.078	T	0.111	0.950	8.874	.	0.093	1.144	.	0.014	0.24084355929	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1222386438	6.501e-05	6.774e-05	6.607e-05	6.393e-05	0.0001	5.42e-05	5.03e-05	8.031e-05	6.263e-05	0	2.239e-05	0	5.054e-05	0	0	7.114e-05	0	0.0001	1.995e-05	1.973e-05	2.595e-05	1.364e-05	0.0002	5.3e-06	2.47e-06	4.91e-06	1.84e-06	0	0	0	0	0	0	0	2.962e-05	0	0.0002	.	.	.	0.035	0.52389	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	0.14455	N	.	.	.	.	.	.	0.092	0.07125	-0.8647	0.50922	T	0.107	0.38832	T	3	0.13499531	0.25689	T	0.522397	0.95466	D	.	.	.	.	0.139678290688	0.13603	0.044512789476439864	0.04395	.	.	0.554562568665	0.46500	T	0.016229	0.13458	T	-0.186805	0.22729	T	-0.506109	0.21716	T	0.190668104664629	0.19884	T	0.349665	0.07767	T	0.1489816	0.33986	0.27699506	0.53649	0.1489816	0.33986	0.27699506	0.53648	0.083	0.00321	T	.	.	0.097	0.15609	B	.	.	0.985773	0.13635	10.17	0.89721318054495092	0.19042	0.08688	0.14581	N	AEFI	0.060809	0.11582	N	-0.484220442244558	0.22598	1.207735	-0.666034344942982	0.17812	0.9488066	1.09608764381542E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	-0.241000	0.08958	4.567000	0.43865	-0.774000	0.03397	0.004000	0.16614	0.722000	0.26360	0.009000	0.08673	.	.	.	548	0.72362	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	300.06	35	chr15	82436358	.	T	G	300.06	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.975;DP=770;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0294;MLEAC=1;MLEAF=0.024;MQ=41.16;MQRankSum=1.67;QD=3.03;ReadPosRankSum=1.54;SOR=0.704	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1220	20	0	1	0
chr15	82664439	82664439	G	C	exonic	AP3B2	.	nonsynonymous SNV	AP3B2:NM_001278511:exon17:c.C2036G:p.S679C	Epileptic encephalopathy, early infantile, 48, Autosomal recessive	.	402	1119	1	0	0	1	0.000446628	.	.	1349661	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.99	D	0.399	N	1.000	D	1.385	L	2.11	T	-1.026	T	0.124	T	0.704	4.562	24.7	5.48	2.580	6.231	19.355	0.306	0.046249960644	.	.	1.665e-05	0	0	0	0	1.504e-05	0	6.124e-05	1.29e-05	2	154602	rs761544331	1.3e-05	1.3e-05	1.089e-05	1.513e-05	0.0003	8.31e-06	6.7e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	1.169e-05	1.656e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.63226	D	0.0	0.92824	D	0.999	0.77913	D	0.99	0.78936	D	0.399255	0.13148	N	0.718467	1	0.81001	D	2.545	0.74286	M	2.11	0.19860	T	-3.1	0.66436	D	0.404	0.57348	-1.0256	0.21886	T	0.124	0.42799	T	10	0.45127985	0.58713	T	0.04625	0.62367	D	0.306	0.62729	0.282	0.23801	0.268702046668	0.26493	0.30205319513751383	0.30118	0.18710114538	0.21023	0.500965833664	0.38963	T	0.747871	0.93068	D	-0.0310761	0.47260	T	-0.185561	0.56006	T	0.924210965633392	0.58527	D	0.762724	0.39120	T	0.15779924	0.35536	0.14485954	0.34377	0.15779924	0.35535	0.14485954	0.34376	-11.516	0.83212	D	.	.	0.144	0.33800	B	.;.;.;.;.	.;.;.;.;.	4.504519	0.70489	25.5	0.9917198683643027	0.54412	0.83334	0.42459	D	AEFBCI	0.710498	0.66424	D	0.678778461446662	0.78243	6.832235	0.682671376981631	0.81063	7.440088	0.999998779216662	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.48	5.48	0.80675	5.284000	0.65431	11.636000	0.93745	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:1.0:0.0	19.355	0.94398	516	0.74704	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1591.98	33	chr15	82664439	.	G	C	1591.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.582e+00;DP=820;ExcessHet=0.0000;FS=0.658;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=-1.074e+00;SOR=0.613	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1255	20	0	1	0
chr15	82762174	82762174	T	C	exonic	FSD2	.	nonsynonymous SNV	FSD2:NM_001281806:exon11:c.A1790G:p.D597G	.	.	427	1091	3	1	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.984	D	0.869	P	0.000	N	1.000	D	1.6	L	2.56	T	-1.165	T	0.062	T	0.42	3.728	18.93	4.49	0.968	4.614	10.518	0.155	0.0174971448793	.	.	3.872e-05	0	0.0001	0	0	3.438e-05	0.0013	0	2.59e-05	4	154602	rs753310052	3.217e-05	3.215e-05	2.86e-05	3.577e-05	0.0005	2.479e-05	2.221e-05	0.0001	7.541e-05	2.987e-05	2.24e-05	0	0	0	0.0005	3.238e-05	6.626e-05	2.323e-05	3.285e-05	3.283e-05	2.569e-05	4.035e-05	7.349e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0	0	0.046	0.40573	D	0.033	0.53072	D	0.984	0.60733	D	0.869	0.61749	P	0.000013	0.62929	N	0.144599	0.999565	0.47592	D	1.435	0.35949	L	2.56	0.13673	T	-1.61	0.40082	N	0.399	0.49965	-1.1655	0.00631	T	0.062	0.25851	T	10	0.41261163	0.56327	T	0.017497	0.39223	T	0.155	0.40530	0.689	0.82653	0.339316883193	0.33537	0.5476190666361904	0.54687	0.109937438986	0.12399	0.373983383179	0.21402	T	0.029528	0.21136	T	-0.267194	0.12071	T	-0.445735	0.28169	T	0.142419087776516	0.16481	T	0.670833	0.27951	T	0.19994207	0.41952	0.230026	0.48092	0.19994207	0.41952	0.230026	0.48091	-5.794	0.44522	T	.	.	0.089	0.11989	B	.;.	.;.	4.450217	0.69175	25.3	0.99827553470316432	0.90939	0.95847	0.66408	D	AEFBI	0.623179	0.60722	D	0.265803155512898	0.54424	3.608044	0.273588582815854	0.54003	3.566661	0.999943937685051	0.47345	0.554377	0.28877	0	0.446627	0.06534	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.6	4.49	0.54177	4.377000	0.59330	4.895000	0.45803	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.845000	0.39915	0.0:0.0756:0.0:0.9244	10.518	0.44088	505	0.75648	SPRY domain|B30.2/SPRY domain|SPRY domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2282.98	35	chr15	82762174	.	T	C	2282.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=916;ExcessHet=0.0000;FS=0.483;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.84;ReadPosRankSum=-6.500e-02;SOR=0.733	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1172	20	0	1	0
chr15	82786868	82786870	CTT	-	exonic	FSD2	.	nonframeshift deletion	FSD2:NM_001007122:exon2:c.521_523del:p.E174del	.	.	430	1085	7	0	0	7	0.00321543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019	.	0.0012	0.0008	0.0003	0.0002	0.0003	0.0019	0.0022	0.0003	0.0006916	18	26028	rs778690406	0.0022	0.0022	0.0023	0.0021	0.0027	0.0021	0.0021	0.0026	0.0025	0.0006	0.0008	3.826e-05	0.0003	0.0010	0.0024	0.0027	0.0017	0.0003	0.0016	0.0016	0.0017	0.0016	0.0027	0.0015	0.0014	0.0024	0.0022	0.0007	0	0.0010	0.0003	0.0002	0.0008	0	0.0027	0.0033	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2715.94	148	chr15	82786867	.	GCTT	G	2715.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.480e-01;DP=863;ExcessHet=0.0000;FS=8.610;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.35;ReadPosRankSum=0.498;SOR=0.576	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1485	20	0	1	0
chr15	82833303	82833303	C	T	exonic	WHAMM	.	nonsynonymous SNV	WHAMM:NM_001080435:exon10:c.C2197T:p.R733C,	.	.	427	1090	4	1	0	6	0.00274474	.	.	3352741	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	0.001	B	0.001	B	0.135	N	1.000	N	0.55	N	1.5	T	-1.063	T	0.042	T	0.145	1.808	12.01	-2.79	-0.967	-1.419	1.976	0.008	0.00576841700083	.	.	5.065e-05	0	8.842e-05	0	0	4.571e-05	0.0012	6.204e-05	3.88e-05	6	154602	rs773987785	4.721e-05	4.788e-05	5.037e-05	4.401e-05	0.0019	3.794e-05	3.476e-05	0.0011	0.0008	0	6.71e-05	0	0	0	0.0019	4.227e-05	8.282e-05	3.479e-05	3.939e-05	3.937e-05	3.854e-05	4.027e-05	0.0002	1.714e-05	1.129e-05	1.972e-05	1.124e-05	0	0	6.539e-05	0	0	0	0	5.88e-05	0	0.0002	0.138	0.25873	T	0.106	0.37872	T	0.001	0.07471	B	0.001	0.04355	B	0.135241	0.02841	N	1.710450	1	0.08975	N	0.345	0.11182	N	1.5	0.31205	T	-0.35	0.12847	N	0.101	0.08366	-1.0627	0.11093	T	0.042	0.18118	T	10	0.041779816	0.02864	T	0.005768	0.14982	T	0.008	0.00669	0.366	0.37361	0.0551355673512	0.04727	0.2563105283441904	0.25545	0.048581699779	0.05306	0.245812684298	0.03339	T	0.00173	0.01158	T	-0.476258	0.00778	T	-0.685219	0.06669	T	0.158006504178047	0.17722	T	0.364564	0.08467	T	0.13169889	0.30689	0.03209016	0.01891	0.13169889	0.30689	0.03209016	0.01891	-4.981	0.36633	T	.	.	0.077	0.06387	B	.	.	0.545929	0.09146	5.928	0.93297445759726894	0.23008	0.09112	0.14933	N	AEFDBCIJ	0.086482	0.17534	N	-1.35656207942603	0.03058	0.1359855	-1.40059141483624	0.03246	0.1510549	0.999997249065048	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.679469	0.61720	0	0.662433	0.64102	0	.	.	5.24	-2.79	0.05494	-1.272000	0.02933	-1.588000	0.05111	-1.731000	0.00715	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1123:0.4116:0.2183:0.2578	1.976	0.03209	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2866.98	37	chr15	82833303	.	C	T	2866.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.647;DP=897;ExcessHet=0.0000;FS=8.305;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.33;ReadPosRankSum=-1.137e+00;SOR=1.220	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1280	20	0	1	0
chr15	82892693	82892693	C	T	exonic	HOMER2	.	nonsynonymous SNV	HOMER2:NM_004839:exon2:c.G154A:p.G52R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	2.81	M	-5.06	D	1.095	D	0.973	D	0.846	5.168	32	5.43	2.541	7.732	18.242	0.936	0.759120803693	.	.	8.542e-06	0	0	0	0	1.52e-05	0	0	6.5e-06	1	154602	rs774130600	4.956e-06	8.893e-06	5.604e-06	4.294e-06	6.096e-05	2.06e-06	1.33e-06	1.01e-05	3.78e-06	6.096e-05	0	0	0	0	0	4.641e-06	0	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	2.414e-05	2.19e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.385	0.91502	M	-5.06	0.98629	D	-7.64	0.95870	D	0.916	0.93018	1.095	0.99452	D	0.973	0.99165	D	10	0.954324	0.94784	D	0.759121	0.98086	D	0.936	0.98563	0.746	0.87738	0.98573010217	0.98556	0.598306292208737	0.59761	0.865874355616	0.69202	0.901028990746	0.96554	D	0.983367	0.99882	D	0.371057	0.88125	D	0.477368	0.94160	D	0.998546361923218	0.94448	D	0.996	0.98622	D	0.89907086	0.91299	0.8638088	0.92440	0.89907086	0.91300	0.8638088	0.92440	-11.658	0.83848	D	.	.	0.940	0.87181	P	.;.	.;.	6.386477	0.95125	34	0.99935534720338304	0.99579	0.92347	0.55502	D	AEFDGBHCI	0.939586	0.94038	D	0.892058920136824	0.91366	10.84698	0.846092503602245	0.92786	11.63083	0.999999999999699	0.74766	0.617157	0.39670	1	0.610034	0.51514	0	0.786243	0.99158	0	0.620846	0.47308	0	.	.	5.43	5.43	0.79006	7.842000	0.85116	7.551000	0.60274	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	18.242	0.89909	484	0.77165	.;WH1/EVH1 domain|WH1/EVH1 domain|WH1/EVH1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2562.98	36	chr15	82892693	.	C	T	2562.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.37;DP=872;ExcessHet=0.0000;FS=1.894;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.56;ReadPosRankSum=-4.160e-01;SOR=0.857	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1253	20	0	1	0
chr15	83008519	83008519	-	A	exonic	C15orf40	.	frameshift insertion	C15orf40:NM_001160113:exon3:c.394dupT:p.L132Ffs*69,	.	.	452	773	160	3	134	300	0.0969626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	4025.8	36	chr15	83008518	.	CA	C,CAA	4025.8	.	AC=5,8;AF=0.119,0.190;AN=42;BaseQRankSum=-3.980e-01;DP=1512;ExcessHet=11.8493;FS=0.573;InbreedingCoeff=-0.4535;MLEAC=5,8;MLEAF=0.119,0.190;MQ=59.99;MQRankSum=0.00;QD=4.26;ReadPosRankSum=0.964;SOR=0.734	GT:AD:DP:GQ:PL	0/0:58,0,7:65:21:0,173,1461,21,1309,1288	8	0	5	0
chr15	83870880	83870880	C	A	exonic	ADAMTSL3	.	nonsynonymous SNV	ADAMTSL3:NM_001301110:exon9:c.C881A:p.T294K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.995	D	0.931	D	0.024	N	0.822	D	3.185	M	-0.49	T	0.450	D	0.566	D	0.656	2.505	14.34	3.73	0.877	3.780	12.655	0.548	0.0527693328966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.50132	D	0.013	0.63109	D	0.995	0.67487	D	0.769	0.66596	P	0.024192	0.26306	N	0.392280	0.821746	0.34786	D	3.535	0.93119	H	-0.49	0.71187	T	-1.91	0.45222	N	0.854	0.85027	0.450	0.89826	D	0.566	0.84262	D	10	0.81394446	0.80652	D	0.052769	0.65201	D	0.548	0.81252	0.585	0.71245	0.807161798267	0.80535	0.8675735186642823	0.86722	0.461491415329	0.45687	0.689081907272	0.65575	T	0.187035	0.54052	T	0.121052	0.66476	D	-0.0638939	0.66058	T	0.952672600746155	0.63847	D	0.827917	0.54241	T	0.18474096	0.39803	0.23265421	0.48432	0.18474096	0.39803	0.23265421	0.48431	-11.313	0.81347	D	.	.	0.907	0.83217	P	.;.	.;.	4.126558	0.61718	24.4	0.98243048380207787	0.39503	0.83710	0.42810	D	AEFBI	0.407986	0.47985	N	0.440995504110438	0.63694	4.608159	0.302994385313629	0.55714	3.734379	0.0483940756526903	0.14767	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.69	3.73	0.41982	3.722000	0.54675	5.772000	0.49749	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.6813:0.3187:0.0	12.655	0.56147	357	0.85079	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1069.98	40	chr15	83870880	.	C	A	1069.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=922;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.63;ReadPosRankSum=-1.800e-02;SOR=0.622	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr15	84025278	84025278	G	A	exonic	ADAMTSL3	.	nonsynonymous SNV	ADAMTSL3:NM_001301110:exon27:c.G4498A:p.G1500S	.	.	424	1090	8	0	0	8	0.00365631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.988	D	0.002	N	0.987	D	3.055	M	-0.46	T	0.269	D	0.552	D	0.761	4.628	25.3	5.15	2.661	5.487	15.931	0.502	0.0851577928096	7.7e-05	0.000399361	0.0002	0	0.0004	0	0	0.0002	0	0.0004	0.000194	30	154602	rs138649477	0.0001	0.0001	0.0001	0.0001	0.0036	0.0001	0.0001	0.0024	0.0021	8.962e-05	0.0002	7.672e-05	0.0002	1.874e-05	0.0036	0.0001	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	2.406e-05	0	0.0001	0	0.0002	0	0	0.0002	0.0019	0.0004	0.012	0.54683	D	0.045	0.49663	D	1.0	0.90584	D	0.93	0.77976	D	0.002038	0.37411	N	0.000000	0.986653	0.40465	D	3.845	0.95734	H	-0.46	0.70014	T	-3.36	0.66549	D	0.734	0.73465	0.269	0.87047	D	0.552	0.83626	D	10	0.6886272	0.71717	D	0.085158	0.74475	D	0.502	0.78475	.	.	0.878794633686	0.87760	0.8455936807256719	0.84520	0.551534003631	0.51990	0.394687086344	0.24327	T	0.05578	0.30103	T	-0.0307606	0.47306	T	0.0480393	0.73453	D	0.482312142848969	0.31982	T	0.862414	0.55771	D	0.31072298	0.53848	0.30939978	0.56955	0.31072298	0.53848	0.30939978	0.56954	-9.111	0.68408	D	.	.	0.117	0.34160	B	.;.	.;.	5.259854	0.88314	29.6	0.99862429860722435	0.94093	0.92717	0.56374	D	AEFDGI	0.618511	0.60429	D	0.716449214924806	0.80708	7.355049	0.603281198108359	0.75179	6.264835	0.965308700839249	0.28822	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.15	5.15	0.70287	5.632000	0.67493	9.233000	0.79371	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.903000	0.43903	0.0:0.0:1.0:0.0	15.931	0.79444	634	0.64659	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1698.98	37	chr15	84025278	.	G	A	1698.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.894;DP=855;ExcessHet=0.0000;FS=1.217;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.05;ReadPosRankSum=-1.331e+00;SOR=0.803	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1200	20	0	1	0
chr15	84025279	84025279	G	A	exonic	ADAMTSL3	.	nonsynonymous SNV	ADAMTSL3:NM_001301110:exon27:c.G4499A:p.G1500D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.987	D	0.002	N	0.995	D	2.58	M	-0.46	T	0.102	D	0.510	D	0.825	4.251	22.1	5.15	2.661	5.487	15.931	0.526	0.0490906224194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.21224	T	0.002	0.79402	D	0.997	0.70673	D	0.949	0.77487	D	0.002038	0.37411	N	0.000000	0.995215	0.42592	D	3.185	0.88900	M	-0.46	0.70014	T	-4.05	0.74504	D	0.834	0.84401	0.102	0.84209	D	0.510	0.81608	D	10	0.98589414	0.98867	D	0.049091	0.63663	D	0.526	0.79947	0.966	0.99667	0.878826326238	0.87764	0.9115437569249368	0.91128	0.657816371367	0.58715	0.492614626884	0.37801	T	0.088066	0.38079	T	0.222153	0.75979	D	0.0813314	0.75668	D	0.996220529079437	0.88912	D	0.813919	0.46746	T	0.4115704	0.61526	0.43397337	0.66932	0.4115704	0.61526	0.43397337	0.66933	-8.283	0.62982	D	.	.	0.225	0.57665	B	.;.	.;.	4.413212	0.68290	25.2	0.99787313170124292	0.87308	0.92694	0.56318	D	AEFDGI	0.618511	0.60429	D	0.668465073037519	0.77567	6.69983	0.573489107101812	0.73044	5.906726	0.965308700839249	0.28822	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.15	5.15	0.70287	5.632000	0.67493	9.265000	0.79590	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.919000	0.45453	0.0:0.0:1.0:0.0	15.931	0.79444	634	0.64659	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1047.98	37	chr15	84025279	.	G	A	1047.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.195;DP=788;ExcessHet=0.0000;FS=0.765;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.80;ReadPosRankSum=-5.740e-01;SOR=0.569	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1200	20	0	1	0
chr15	84031415	84031415	C	G	exonic	ADAMTSL3	.	nonsynonymous SNV	ADAMTSL3:NM_001301110:exon28:c.C4737G:p.N1579K	.	.	423	1057	40	2	0	44	0.0203892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	T	0.006	B	0.005	B	0.003	N	1.000	N	0.365	N	0.11	T	-0.952	T	0.101	T	0.041	-0.846	0.558	3.24	1.381	0.082	5.034	0.102	.	0.0003	0.00359425	0.0025	9.619e-05	0.0005	0	0	0.0007	0.0088	0.0151	0.0022639	350	154602	rs148548737	0.0013	0.0013	0.0009	0.0018	0.0174	0.0013	0.0013	0.0167	0.0164	5.974e-05	0.0001	0.0023	2.519e-05	0	0.0139	0.0002	0.0017	0.0174	0.0008	0.0008	0.0006	0.0011	0.0180	0.0007	0.0007	0.0150	0.0138	4.811e-05	0	0.0002	0.0020	0	0	0.0068	0.0003	0.0014	0.0180	0.92	0.02309	T	0.926	0.02814	T	0.006	0.13644	B	0.004	0.11217	B	0.002575	0.00898	N	3.231580	1	0.08975	N	1.145	0.29067	L	0.11	0.61923	T	0.0	0.10136	N	0.075	0.04913	-0.9520	0.40625	T	0.101	0.37392	T	10	0.006237477	0.00141	T	.	.	.	0.102	0.29158	0.408	0.44230	0.531679877283	0.52817	0.10540083997250971	0.10470	0.142973379505	0.16129	0.271489948034	0.06336	T	0.002445	0.01836	T	-0.619652	0.00111	T	-0.649238	0.09007	T	0.00818391816680629	0.00098	T	0.657934	0.26722	T	0.04212725	0.06331	0.045202307	0.06031	0.04212725	0.06331	0.045202307	0.06031	-4.004	0.23864	T	.	.	0.102	0.22609	B	.;.	.;.	1.553032	0.19905	14.49	0.34166219941351694	0.02075	0.07927	0.13913	N	AEFDBI	0.119643	0.23342	N	-0.82455612829479	0.12684	0.6198627	-0.716785762217609	0.16542	0.875626	4.77055522160839E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.15	3.24	0.36257	0.090000	0.14865	0.409000	0.18089	0.599000	0.40250	0.047000	0.21291	0.042000	0.21616	0.964000	0.52637	0.1665:0.6579:0.0:0.1757	5.034	0.13763	640	0.64132	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1271.98	37	chr15	84031415	.	C	G	1271.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.374e+00;DP=810;ExcessHet=0.0000;FS=2.590;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=-1.339e+00;SOR=0.455	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1122	20	0	1	0
chr15	84239998	84239998	-	ACGTGAACAGGAGGAGAGGCA	exonic	GOLGA6L4	.	nonframeshift insertion	GOLGA6L4:NM_001267536:exon6:c.644_645insACGTGAACAGGAGGAGAGGCA:p.E219_D220insERQREQE,	.	.	985	495	13	25	4	67	0.0598291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	.	0	1.29e-05	2	154602	rs779561802	0.0105	0.0058	0.0101	0.0109	0.2682	0.0102	0.0101	0.2596	0.2561	0.0231	0.0037	0.0223	0.2682	0.0079	0.0042	0.0006	0.0141	0.0199	0.0008	0.0050	0.0003	0.0013	0.0208	0.0004	0.0003	0.0027	0.0017	0.0068	0	0	0	0	0	0	0.0001	0.0143	0.0208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	3522.01	6	chr15	84239998	.	T	A,TACGTGAACAGGAGGAGAGGCA	3522.01	.	AC=6,3;AF=0.250,0.125;AN=24;BaseQRankSum=-1.282e+00;DP=208;ExcessHet=0.0000;FS=1.808;InbreedingCoeff=0.6093;MLEAC=9,5;MLEAF=0.375,0.208;MQ=41.82;MQRankSum=2.07;QD=30.81;ReadPosRankSum=0.425;SOR=0.357	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,44,0:44:99:.:.:1264,131,0,1264,131,1264	7	2	1	9
chr15	84240004	84240004	A	T	exonic	GOLGA6L4	.	nonsynonymous SNV	GOLGA6L4:NM_001267536:exon6:c.A650T:p.E217V,	.	.	987	531	4	0	0	4	0.00375235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	N	.	.	1.7	T	-0.998	T	0.055	T	0.228	0.554	6.995	.	-0.313	-6.428	4.012	0.020	0.00234282258124	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1315445023	0.0002	0.0005	0.0001	0.0002	0.0014	0.0001	0.0001	0.0008	0.0007	0.0014	0.0002	0.0003	4.747e-05	0.0002	0	0.0001	0.0002	9.369e-05	0	0.0007	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.007	0.59928	D	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.7	0.26885	T	-3.98	0.73788	D	0.096	0.07673	-0.9975	0.30618	T	0.055	0.23224	T	5	0.121462464	0.23025	T	0.002343	0.04535	T	0.020	0.03691	0.376	0.38994	0.0482279557977	0.04254	0.026193457750590204	0.02569	2.12773366393	0.95105	.	.	.	0.046325	0.27389	T	-0.251195	0.13953	T	-0.5986	0.12930	T	0.227035511211192	0.21809	T	0.629237	0.24427	T	0.20441715	0.42551	0.16998494	0.39073	0.20441715	0.42551	0.16998494	0.39073	-9.711	0.72163	D	.	.	0.207	0.43297	B	.	.	1.425485	0.18429	13.73	0.89710833754392194	0.19034	0.00215	0.01220	N	AEFI	0.058936	0.11093	N	-1.007917083291	0.08438	0.3956685	-1.27565754807782	0.04762	0.2253782	1.4212593479489E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	.	.	.	-4.550000	0.00250	-1.695000	0.04899	0.195000	0.17883	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.7158:0.0:0.2842:0.0	4.012	0.09115	778	0.48011	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1111	38.26	7	chr15	84240004	.	A	T	38.26	.	AC=2;AF=0.111;AN=18;DP=173;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3531;MLEAC=2;MLEAF=0.111;MQ=32.98;QD=19.13;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,120,1800	8	1	0	12
chr15	84240189	84240189	C	T	exonic	GOLGA6L4	.	nonsynonymous SNV	GOLGA6L4:NM_001267536:exon6:c.C835T:p.R279C,	.	.	753	753	16	0	0	16	0.0105125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	.	.	.	.	.	.	0.994	N	.	.	2.4	T	-1.009	T	0.036	T	0.204	0.413	6.242	0.762	0.748	-0.343	4.972	0.024	0.000722496831276	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1171360296	0.0010	0.0077	0.0011	0.0009	0.0021	0.0009	0.0009	0.0012	0.0011	0.0002	0.0003	0.0006	0.0003	0.0008	0.0021	0.0013	0.0014	0.0002	0.0002	0.0006	0.0002	0.0003	0.0004	0.0002	0.0001	0.0001	0.0001	0.0001	0	0.0004	0.0004	0	0.0007	0	0.0002	0.0006	0	0.1	0.30515	T	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.23639	N	.	.	.	2.4	0.15608	T	-2.26	0.50502	N	0.099	0.08088	-1.0086	0.27354	T	0.036	0.15334	T	6	0.15234295	0.28778	T	7.22E-4	0.00472	T	0.024	0.04979	0.426	0.47185	0.0716867268079	0.06686	0.02407774487081985	0.02358	2.36362769044	0.96864	.	.	.	0.079796	0.36213	T	-0.314989	0.07317	T	-0.690236	0.06375	T	0.0766820126804913	0.09557	T	0.456254	0.13085	T	0.057518452	0.11456	0.05492262	0.09536	0.057518452	0.11456	0.05492262	0.09536	-3.926	0.22693	T	.	.	0.170	0.37445	B	.	.	1.326514	0.17311	13.09	0.57909294928781596	0.05873	0.00472	0.02260	N	AEFI	0.035008	0.04434	N	-0.663721429905769	0.17061	0.8747681	-0.894485716978703	0.12224	0.6275393	6.87443934965625E-6	0.01202	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	0.762	0.762	0.17600	-6.096000	0.00099	-10.050000	0.00745	-1.170000	0.01400	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.972	0.13469	778	0.48011	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.125	792.36	32	chr15	84240189	.	C	T	792.36	.	AC=5;AF=0.125;AN=40;BaseQRankSum=0.769;DP=806;ExcessHet=1.1607;FS=14.484;InbreedingCoeff=-0.1535;MLEAC=5;MLEAF=0.125;MQ=35.38;MQRankSum=-2.890e-01;QD=4.48;ReadPosRankSum=0.367;SOR=1.471	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,6:48:99:0|1:84240169_A_G:118,0,1665:84240169	15	0	5	1
chr15	84512239	84512239	T	C	exonic	GOLGA6L4	.	unknown	UNKNOWN,	.	.	761	744	17	0	0	17	0.0112957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs369997800	0.0139	0.0100	0.0140	0.0138	0.1652	0.0136	0.0135	0.1613	0.1598	0.0014	0.0007	0.0026	0.1652	0.0049	0.0029	0.0009	0.0116	0.0209	0.0024	0.0033	0.0023	0.0025	0.0521	0.0022	0.0021	0.0458	0.0433	0.0005	0	0.0007	0.0007	0.0521	0.0029	0	0.0004	0.0018	0.0138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	244.98	34	chr15	84512239	.	T	C	244.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.870e-01;DP=732;ExcessHet=0.0000;FS=1.447;InbreedingCoeff=-0.0248;MLEAC=1;MLEAF=0.024;MQ=41.95;MQRankSum=1.06;QD=8.45;ReadPosRankSum=-6.880e-01;SOR=0.998	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr15	84512371	84512391	AGCCTCTCCTCCTGTTCACAC	-	exonic	GOLGA6L4	.	unknown	UNKNOWN,	.	.	695	820	6	1	0	8	0.00485437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0003	9.353e-05	0.0002	0.0029	0.0001	0.0001	0.0016	0.0012	3.418e-05	0	0.0007	0.0001	0	0.0029	5.403e-05	0.0002	0.0011	3.523e-05	7.954e-05	1.377e-05	5.774e-05	0.0009	1.33e-05	8.48e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.567e-05	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	538.11	154	chr15	84512370	.	TAGCCTCTCCTCCTGTTCACAC	T	538.11	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.58;DP=2189;ExcessHet=0.0000;FS=1.048;InbreedingCoeff=-0.0325;MLEAC=1;MLEAF=0.024;MQ=41.91;MQRankSum=-2.954e+00;QD=7.17;ReadPosRankSum=-3.948e+00;SOR=0.895	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr15	84512452	84512452	C	0	exonic	GOLGA6L4	.	.	.	.	.	671	744	60	0	47	107	0.0387597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	4524.06	139	chr15	84512452	.	C	T,*	4524.06	.	AC=5,8;AF=0.119,0.190;AN=42;BaseQRankSum=-4.670e-01;DP=3555;ExcessHet=11.8493;FS=1.281;InbreedingCoeff=-0.4584;MLEAC=5,8;MLEAF=0.119,0.190;MQ=45.57;MQRankSum=1.25;QD=1.92;ReadPosRankSum=0.576;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:198,120,0:318:99:0|1:84512452_C_T:1503,0,5734,2093,6024,8117:84512452	8	0	5	0
chr15	84512764	84512764	T	A	exonic	GOLGA6L4	.	unknown	UNKNOWN,	.	.	529	990	3	0	0	3	0.00151286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1182290548	0.0003	0.0008	0.0002	0.0004	0.0041	0.0003	0.0003	0.0037	0.0036	0	7.533e-05	0.0003	0	0	0.0003	2.644e-05	0.0004	0.0041	0.0001	0.0003	0.0001	0.0002	0.0031	8.333e-05	6.742e-05	0.0017	0.0013	0	0	0	0.0008	0	0	0	4.021e-05	0.0007	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	160.15	35	chr15	84512764	.	T	A	160.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=638;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0288;MLEAC=1;MLEAF=0.024;MQ=39.31;MQRankSum=0.901;QD=4.00;ReadPosRankSum=0.778;SOR=0.693	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,1021	20	0	1	0
chr15	84604315	84604315	C	G	exonic	ZSCAN2	.	nonsynonymous SNV	ZSCAN2:NM_001007072:exon2:c.C388G:p.Q130E	.	.	.	.	.	.	.	.	.	.	.	2194481	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.095	B	0.061	B	0.029	N	1.000	N	0.805	L	3.7	T	-1.008	T	0.011	T	0.226	1.832	12.08	4.66	2.644	0.826	13.364	0.093	0.00411414134265	.	.	8.545e-06	0	0	0	0	0	0	7.311e-05	6.5e-06	1	154602	rs760384430	6.855e-07	6.84e-07	0	1.378e-06	1.166e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.166e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	0.38407	T	0.561	0.39645	T	0.001	0.25437	B	0.005	0.26820	B	0.029160	0.25496	N	0.280340	1	0.81001	D	0.905	0.23240	L	3.7	0.04079	T	-0.69	0.38734	N	0.301	0.46649	-1.0081	0.27510	T	0.011	0.03903	T	10	0.1273874	0.24224	T	0.004114	0.09838	T	0.093	0.26882	0.494	0.58206	0.353548585375	0.34966	0.08995194267019202	0.08928	0.0844159057736	0.09537	0.377982139587	0.21968	T	0.030115	0.21421	T	-0.290433	0.09593	T	-0.554333	0.16912	T	0.197766987841499	0.20292	T	0.740126	0.35895	T	0.15226696	0.34573	0.14052936	0.33496	0.15226696	0.34573	0.14052936	0.33495	-7.096	0.54732	T	.	.	0.071	0.18206	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.269328	0.44742	22.0	0.97088576183686026	0.32315	0.61993	0.31648	D	AEFDBCI	0.157544	0.28307	N	-0.279691612097088	0.29933	1.664434	-0.0601691055125524	0.37054	2.164401	0.999997307640835	0.74766	0.627647	0.40530	0	0.685571	0.66316	0	0.672317	0.60874	0	0.635551	0.53088	0	.	.	5.63	4.66	0.57857	1.776000	0.38223	3.319000	0.37529	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.997000	0.79791	0.0:0.8278:0.1722:0.0	13.364	0.60112	685	0.59416	SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain;.;SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	490.98	33	chr15	84604315	.	C	G	490.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.054e+00;DP=732;ExcessHet=0.0000;FS=2.652;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=0.970;SOR=0.376	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1401	20	0	1	0
chr15	84799209	84799209	G	A	exonic	ZNF592	.	nonsynonymous SNV	ZNF592:NM_014630:exon9:c.G3136A:p.G1046R,	.	.	2	1519	1	0	0	1	0.000329056	0.7041	0.42	15043	Galloway-Mowat_syndrome_1	MONDO:MONDO:0033005,MedGen:C4551772,OMIM:251300,Orphanet:2065,Orphanet:83472	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.59	T	0.36	B	0.042	B	0.000	D	0.821	D	0.485	N	0.69	T	-1.023	T	0.056	T	0.829	2.884	15.61	4.35	2.479	4.657	7.163	0.165	0.0106465858211	7.7e-05	.	0.0001	9.621e-05	0	0	0	0.0002	0	0	0.0001229	19	154602	rs150829393	0.0001	0.0001	9.937e-05	0.0001	0.0014	8.915e-05	8.399e-05	0.0007	0.0005	0.0002	0	7.653e-05	0	5.616e-05	0.0014	0.0001	0.0002	1.159e-05	9.2e-05	9.194e-05	0.0002	2.691e-05	0.0002	5.528e-05	4.365e-05	9.047e-05	7.011e-05	2.414e-05	0	0	0	0	9.422e-05	0	0.0002	0.0005	0	0.162	0.23541	T	0.416	0.14284	T	0.36	0.33860	B	0.042	0.24114	B	0.000101	0.51296	D	0.184994	0.820526	0.34769	A	-0.46	0.02758	N	0.69	0.51714	T	0.74	0.02038	N	0.605	0.88577	-1.0234	0.22606	T	0.056	0.23715	T	10	0.2516362	0.42506	T	0.010647	0.27430	T	0.165	0.42395	0.24	0.17218	0.647156567392	0.64423	0.48241838259034975	0.48161	0.386426494922	0.39930	0.668430089951	0.62614	T	0.023694	0.18043	T	-0.0964171	0.37016	T	-0.0841241	0.64602	T	0.0267632236356695	0.01511	T	0.759024	0.38317	T	0.05531942	0.10735	0.069089495	0.14511	0.05531942	0.10735	0.069089495	0.14510	-7.343	0.56501	T	.	.	0.247	0.48177	B	.;.	.;.	4.767751	0.77149	26.6	0.99849336934462751	0.92925	0.92157	0.55071	D	AEFBCI	0.750795	0.69180	D	-0.0733884724783477	0.38563	2.260479	0.105026715444279	0.44804	2.75521	0.993206091969954	0.33125	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.33	4.35	0.51454	2.650000	0.46329	4.739000	0.44596	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.876000	0.41813	0.0:0.1521:0.6117:0.2362	7.163	0.24851	662	0.61715	Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2437.98	167	chr15	84799209	.	G	A	2437.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.538;DP=917;ExcessHet=0.0000;FS=2.846;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.60;ReadPosRankSum=-2.510e-01;SOR=0.475	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr15	84857335	84857335	C	T	exonic	ALPK3	.	nonsynonymous SNV	ALPK3:NM_020778:exon6:c.C2597T:p.T866M,	.	.	424	1094	4	0	0	4	0.00182482	.	.	505440	not_specified|ALPK3-related_disorder|Cardiovascular_phenotype|not_provided	MedGen:CN169374|.|MedGen:CN230736|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.04	D	0.865	P	0.226	B	0.000	N	1.000	N	0.805	L	0.11	T	-0.949	T	0.063	T	0.076	2.184	13.26	-1.06	0.139	-0.413	6.352	0.142	.	0.0047	0.00479233	0.0014	0.0134	0.0008	0	0	0.0003	0.0011	0.0001	0.0013519	209	154602	rs35292668	0.0006	0.0006	0.0006	0.0005	0.0140	0.0005	0.0005	0.0130	0.0125	0.0140	0.0008	0	0	1.874e-05	0.0047	0.0002	0.0012	0.0002	0.0036	0.0035	0.0036	0.0035	0.0116	0.0033	0.0032	0.0108	0.0104	0.0116	0	0.0017	0	0	9.413e-05	0.0034	0.0003	0.0033	0.0002	0.009	0.57480	D	0.051	0.47828	T	0.865	0.47557	P	0.226	0.38054	B	0.000039	0.00387	N	5.155910	1	0.08975	N	1.845	0.48678	L	0.11	0.61208	T	-1.4	0.34596	N	0.154	0.15888	-0.9494	0.41075	T	0.063	0.26172	T	10	0.00322631	0.00055	T	.	.	.	0.142	0.37995	.	.	0.610759318428	0.60762	0.17659237845402675	0.17578	0.363144066244	0.37948	0.335167109966	0.15713	T	0.007655	0.07052	T	-0.559742	0.00255	T	-0.565776	0.15838	T	0.0340019972115947	0.02638	T	0.59464	0.22023	T	0.026841305	0.01794	0.0495533	0.07596	0.026841305	0.01793	0.0495533	0.07596	-4.782	0.34380	T	.	.	0.110	0.21163	B	.	.	1.197186	0.15889	12.17	0.98762816520473795	0.45847	0.07424	0.13443	N	AEFDBHCI	0.077894	0.15703	N	-0.661635705175023	0.17122	0.8783767	-0.803789389769946	0.14404	0.7524272	0.957007947527556	0.28279	0.706548	0.73137	0	0.610034	0.51514	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	4.76	-1.06	0.09491	-0.451000	0.06869	-0.089000	0.12081	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.0:0.3128:0.4947:0.1925	6.352	0.20588	641	0.64016	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	1112.98	86	chr15	84857335	.	C	T	1112.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=853;ExcessHet=0.0000;FS=0.821;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=1.27;SOR=0.538	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1575	20	0	1	0
chr15	84858139	84858139	C	T	exonic	ALPK3	.	nonsynonymous SNV	ALPK3:NM_020778:exon6:c.C3401T:p.A1134V,	.	.	409	1094	19	0	0	19	0.00860897	.	.	505269	not_specified|ALPK3-related_disorder|Cardiovascular_phenotype|not_provided	MedGen:CN169374|.|MedGen:CN230736|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.29	T	0.022	B	0.01	B	0.405	N	1.000	N	1.79	L	0.16	T	-1.002	T	0.131	T	0.158	0.409	6.223	0.158	0.469	0.024	2.739	0.015	0.0991630455031	0.0005	0.000399361	0.0012	0.0003	0.0018	0	0	0.0015	0.0014	0.0017	0.0001153	3	26028	rs139666355	0.0009	0.0009	0.0008	0.0009	0.0093	0.0008	0.0008	0.0073	0.0066	0.0005	0.0018	0.0039	0	0	0.0093	0.0007	0.0015	0.0014	0.0007	0.0007	0.0007	0.0006	0.0025	0.0006	0.0005	0.0014	0.0011	9.627e-05	0	0.0015	0.0029	0	0	0.0102	0.0007	0.0009	0.0025	0.009	0.57480	D	0.103	0.38305	T	0.022	0.18677	B	0.01	0.14941	B	0.405146	0.13071	N	0.720818	1	0.08975	N	1.545	0.39105	L	0.16	0.60610	T	-1.04	0.27259	N	0.053	0.02462	-1.0025	0.29197	T	0.131	0.44188	T	10	0.005576074	0.00123	T	0.099163	0.77063	D	0.015	0.02232	.	.	0.516217604878	0.51264	0.11891924480858854	0.11818	0.111437477428	0.12582	0.435870021582	0.30012	T	0.013169	0.11438	T	-0.458627	0.01003	T	-0.461641	0.26420	T	0.00349060985136757	0.00037	T	0.510949	0.16331	T	0.11256473	0.26591	0.078325756	0.17532	0.11256473	0.26591	0.078325756	0.17532	-4.546	0.31486	T	.	.	0.120	0.24633	B	.	.	0.605318	0.09738	6.506	0.97486891558126965	0.34219	0.12586	0.17359	N	AEFDGBI	0.100213	0.20156	N	-0.853872196482602	0.11955	0.579899	-0.919521836522363	0.11634	0.5938894	0.99702651272272	0.35208	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	4.69	0.158	0.14233	-0.391000	0.07383	-0.067000	0.12346	0.585000	0.30472	0.000000	0.06391	0.000000	0.08366	0.376000	0.26245	0.1741:0.3815:0.3402:0.1042	2.739	0.04926	641	0.64016	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	904.98	35	chr15	84858139	.	C	T	904.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.845e+00;DP=848;ExcessHet=0.0000;FS=8.297;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.76;ReadPosRankSum=-1.193e+00;SOR=0.780	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1202	20	0	1	0
chr15	84858226	84858226	C	T	exonic	ALPK3	.	nonsynonymous SNV	ALPK3:NM_020778:exon6:c.C3488T:p.A1163V,	.	.	.	.	.	.	.	.	.	.	.	1191723	Cardiovascular_phenotype|not_provided	MedGen:CN230736|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.999	D	0.994	D	0.000	D	0.999	D	2.175	M	-1.22	T	0.210	D	0.606	D	0.359	5.159	32	5.79	2.742	3.683	15.541	0.378	0.344173268938	.	.	8.491e-05	0	0	0	0	0.0002	0	0	4.53e-05	7	154602	rs755941827	7.403e-05	7.456e-05	7.909e-05	6.892e-05	0.0002	6.261e-05	5.819e-05	7.407e-05	6.805e-05	0	0	0	0	1.884e-05	0.0002	8.823e-05	8.296e-05	3.501e-05	2.631e-05	2.627e-05	2.571e-05	2.693e-05	5.883e-05	8.15e-06	5.14e-06	1.973e-05	1.125e-05	0	0	0	0	0	0	0	5.883e-05	0	0	0.001	0.78490	D	0.012	0.63918	D	0.999	0.77913	D	0.994	0.82059	D	0.000259	0.46924	D	0.186252	0.998616	0.45166	D	2.615	0.76484	M	-1.22	0.78752	T	-2.04	0.46842	N	0.463	0.49965	0.210	0.86071	D	0.606	0.86034	D	10	0.43774632	0.57902	T	0.344173	0.92096	D	0.378	0.69612	0.287	0.24601	0.870092529206	0.86883	0.5307756042158425	0.53001	0.543955468731	0.51462	0.796879529953	0.81488	T	0.184126	0.53669	T	-0.0683471	0.41591	T	-0.13628	0.60439	T	0.427091603731134	0.29953	T	0.932107	0.74696	D	0.22431338	0.45070	0.27860174	0.53822	0.22431338	0.45070	0.27860174	0.53821	-6.084	0.46977	T	.	.	0.510	0.65042	A	.	.	4.645910	0.74011	26.1	0.999331460139671	0.99488	0.90311	0.51386	D	AEFDGBI	0.436931	0.49694	N	0.728723772931375	0.81518	7.540435	0.716756190302495	0.83653	8.078021	0.99999999999985	0.74766	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.79	5.79	0.91751	5.465000	0.66456	7.539000	0.60051	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	15.541	0.75790	641	0.64016	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	933.98	45	chr15	84858226	.	C	T	933.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.710e-01;DP=855;ExcessHet=0.0000;FS=8.159;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=0.342;SOR=0.789	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1330	20	0	1	0
chr15	85117697	85117697	-	A	exonic	PDE8A	.	frameshift insertion	PDE8A:NM_173454:exon16:c.1455dupA:p.H486Tfs*32	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3008.94	35	chr15	85117697	.	T	TA	3008.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.095;DP=886;ExcessHet=0.0000;FS=1.145;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.18;ReadPosRankSum=1.08;SOR=0.596	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1303	20	0	1	0
chr15	85580602	85580602	T	G	exonic	AKAP13	.	nonsynonymous SNV	AKAP13:NM_006738:exon7:c.T2534G:p.V845G	.	.	432	110	446	510	24	1490	0.869514	.	.	2814437	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.45	T	0.0	B	0.002	B	.	.	1.000	P	0.345	N	2.55	T	-0.957	T	0.017	T	0.404	1.720	11.71	0.070	-0.113	-1.248	6.569	0.179	0.00506693407359	.	0.000599042	0.0032	0.0007	0.0032	0	0.0002	0.0039	0.0088	0.0048	0.0001153	3	26028	rs4075256	0.0025	0.0025	0.0024	0.0027	0.0151	0.0025	0.0024	0.0125	0.0116	0.0004	0.0025	0.0292	2.519e-05	0.0001	0.0151	0.0018	0.0045	0.0047	0.0023	0.0023	0.0022	0.0024	0.0048	0.0021	0.0020	0.0033	0.0028	0.0003	0	0.0016	0.0297	0	9.45e-05	0.0171	0.0025	0.0038	0.0048	0.423	0.10659	T	0.027	0.63918	D	0.0	0.02946	B	0.001	0.06944	B	.	.	.	.	1	0.08975	P	1.245	0.31408	L	2.55	0.13795	T	-1.02	0.26843	N	0.078	0.06720	-0.9574	0.39662	T	0.017	0.06998	T	8	0.0039428473	0.00076	T	0.005067	0.12846	T	0.179	0.44899	.	.	0.422182357427	0.41838	0.1432355315383818	0.14246	0.0440664064185	0.04745	0.228416800499	0.01853	T	0.010925	0.27888	T	-0.552168	0.00283	T	-0.564974	0.15912	T	0.00203509816072437	0.00021	T	0.324768	0.06643	T	0.1311308	0.30576	0.06462619	0.12981	0.1311308	0.30576	0.06462619	0.12981	-3.647	0.18539	T	.	.	0.065	0.06069	B	.;.;.	.;.;.	0.426331	0.07970	4.681	0.95987591324156307	0.28377	0.04720	0.10414	N	AEFDBHCI	.	.	.	-1.3770577569871	0.02854	0.1266311	-1.35682337870166	0.03726	0.1743996	0.999998904741782	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.65145	0.50148	0	0.678554	0.66404	0	.	.	5.68	0.070	0.13688	-1.139000	0.03324	-0.569000	0.08436	-0.832000	0.02862	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4775:0.1299:0.3926	6.569	0.21723	714	0.56256	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.7619	59865.85	115	chr15	85580602	.	T	C,G	59865.85	.	AC=32,1;AF=0.762,0.024;AN=42;BaseQRankSum=1.83;DP=2553;ExcessHet=4.7172;FS=0.631;InbreedingCoeff=-0.2727;MLEAC=32,1;MLEAF=0.762,0.024;MQ=60.00;MQRankSum=0.00;QD=23.83;ReadPosRankSum=0.419;SOR=0.578	GT:AD:DP:GQ:PL	0/1:46,84,0:130:99:2255,0,1160,2393,1412,3805	0	11	9	0
chr15	85581763	85581763	G	T	exonic	AKAP13	.	nonsynonymous SNV	AKAP13:NM_006738:exon7:c.G3695T:p.C1232F	.	.	419	1098	5	0	0	5	0.00227169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.246	B	0.072	B	.	.	1.000	N	0.975	L	2.56	T	-0.978	T	0.020	T	0.37	1.082	9.416	-1.16	0.036	0.210	1.338	0.091	0.00511989660992	.	.	1.653e-05	0	0	0	0	3.005e-05	0	0	1.29e-05	2	154602	rs757964494	8.209e-06	8.893e-06	8.167e-06	8.251e-06	0.0005	4.38e-06	3.46e-06	0.0001	7.541e-05	0	6.708e-05	0	0	0	0.0005	3.597e-06	3.312e-05	0	6.569e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.051	0.56456	T	0.34	0.69154	T	0.159	0.31102	B	0.033	0.28043	B	.	.	.	.	1	0.08975	N	1.175	0.29870	L	2.56	0.13673	T	-2.84	0.59873	D	0.293	0.33360	-0.9778	0.35503	T	0.020	0.08593	T	9	0.090863496	0.15868	T	0.00512	0.13001	T	0.091	0.26358	0.325	0.30711	0.236619781664	0.23270	0.11895181330509427	0.11822	0.0524407087411	0.05777	0.308584660292	0.11693	T	0.085878	0.63870	T	-0.31204	0.07569	T	-0.489029	0.23493	T	0.0565071692615405	0.06606	T	0.649735	0.26051	T	0.07764557	0.17636	0.11799037	0.28482	0.07764557	0.17635	0.11799037	0.28482	-4.164	0.26388	T	.	.	0.131	0.28319	B	.;.;.	.;.;.	0.754259	0.11237	7.870	0.90751100593155898	0.20000	0.07105	0.13131	N	AEFDBHCI	0.075803	0.15232	N	-0.877044243087379	0.11390	0.5494146	-0.965320694656095	0.10570	0.5331826	0.999999888302104	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.709663	0.75317	0	0.657601	0.63696	0	.	.	4.61	-1.16	0.09181	0.105000	0.15169	-0.368000	0.09627	0.674000	0.70861	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2865:0.1485:0.4135:0.1515	1.338	0.02019	714	0.56256	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1456.98	109	chr15	85581763	.	G	T	1456.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.370e-01;DP=2323;ExcessHet=0.0000;FS=0.770;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.49;ReadPosRankSum=-9.880e-01;SOR=0.838	GT:AD:DP:GQ:PL	0/0:108,0:108:99:0,120,1800	20	0	1	0
chr15	85722278	85722278	A	C	exonic	AKAP13	.	nonsynonymous SNV	AKAP13:NM_001270546:exon17:c.A2290C:p.I764L	.	.	422	1086	14	0	0	14	0.00640439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.997	D	0.994	D	.	.	1.000	D	1.49	L	1.08	T	-0.745	T	0.210	T	0.632	5.295	34	5.69	2.150	7.161	15.117	0.266	.	.	0.00379393	0.0022	0	8.637e-05	0.0001	0	4.506e-05	0	0.0159	0.0018823	291	154602	rs565146846	0.0009	0.0009	0.0005	0.0014	0.0150	0.0009	0.0009	0.0143	0.0141	0	8.955e-05	0	5.038e-05	0	0.0021	8.994e-06	0.0008	0.0150	0.0005	0.0005	0.0002	0.0007	0.0145	0.0004	0.0004	0.0118	0.0108	0	0	0.0003	0	0	0	0	0	0	0.0145	0.017	0.51248	D	0.013	0.66756	D	0.997	0.70673	D	0.994	0.82059	D	.	.	.	.	0.999998	0.58761	D	2.135	0.59519	M	1.08	0.39401	T	-1.8	0.42384	N	0.549	0.65673	-0.7447	0.58211	T	0.210	0.56959	T	9	0.010322779	0.00230	T	.	.	.	0.266	0.57999	0.601	0.73226	0.547203082319	0.54374	0.42333860662965694	0.42250	0.269806196692	0.29503	0.762062847614	0.76236	T	0.104875	0.41484	T	-0.308529	0.07878	T	-0.203633	0.54302	T	0.0645808325575353	0.07869	T	0.909909	0.80719	D	0.4407101	0.63448	0.2719383	0.53099	0.4407101	0.63448	0.2719383	0.53098	-10.38	0.76155	D	.	.	0.355	0.59211	A	.;.;.;.;.	.;.;.;.;.	4.047833	0.59975	24.2	0.99454272035467284	0.65427	0.98982	0.89513	D	AEFDGBI	0.865030	0.78399	D	0.707371698086689	0.80118	7.223529	0.719570014819262	0.83864	8.135223	0.999999999998743	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.69	5.69	0.88346	7.147000	0.76970	9.285000	0.79745	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.117	0.72085	763	0.50172	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;.;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	5986.11	33	chr15	85722278	.	A	C	5986.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.93;DP=1099;ExcessHet=0.1072;FS=0.529;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.67;ReadPosRankSum=1.05;SOR=0.740	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	19	0	2	0
chr15	86262866	86262866	T	C	exonic	AGBL1	.	nonsynonymous SNV	AGBL1:NM_152336:exon10:c.T1058C:p.M353T,	Corneal dystrophy, Fuchs endothelial, 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.867	P	0.463	P	0.000	D	0.736	N	2.135	M	2.85	T	-0.769	T	0.144	T	0.485	1.426	10.71	4.36	0.885	5.520	12.117	0.135	0.0225064694165	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1232522856	1.382e-06	1.096e-05	1.374e-06	1.389e-06	1.182e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.078e-07	0	1.182e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.791	0.44643	P	0.15	0.34161	B	0.000431	0.44522	D	0.244651	0.73612	0.29781	N	2.34	0.67151	M	.	.	.	.	.	.	.	.	-0.7689	0.56918	T	0.144	0.46623	T	10	0.3978079	0.55352	T	0.022506	0.45406	T	0.135	0.36572	0.288	0.24761	0.350964488264	0.34705	0.3220213190486209	0.32115	0.0118701311964	0.01121	0.431409180164	0.29401	T	0.018676	0.15012	T	-0.13799	0.30211	T	-0.330704	0.41391	T	0.701831459999084	0.40806	D	0.751225	0.37284	T	0.1695493	0.37479	0.3762269	0.62749	0.1695493	0.37478	0.3762269	0.62749	.	.	.	.	.	0.455	0.69456	A	.;.	.;.	2.703601	0.35325	19.87	0.97119274614771356	0.32447	0.97689	0.76430	D	AEFI	0.684393	0.64675	D	0.186503835777567	0.50551	3.244031	0.174009336101292	0.48427	3.058835	0.953360065301986	0.28069	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.5	4.36	0.51643	5.703000	0.67994	5.070000	0.47169	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.049000	0.15107	0.0:0.0:0.1431:0.8569	12.117	0.53172	509	0.75304	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	131.1	90	chr15	86262866	.	T	C	131.1	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.055e+00;DP=1321;ExcessHet=0.1072;FS=121.526;InbreedingCoeff=-0.0499;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.64;ReadPosRankSum=1.08;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:115,0:115:99:.:.:0,120,1800	19	0	2	0
chr15	86262867	86262867	G	A	exonic	AGBL1	.	nonsynonymous SNV	AGBL1:NM_152336:exon10:c.G1059A:p.M353I,	Corneal dystrophy, Fuchs endothelial, 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.617	P	0.242	B	0.000	D	0.642	N	2.135	M	2.92	T	-0.748	T	0.127	T	0.34	1.463	10.84	5.5	2.578	2.277	13.378	0.096	0.0201173805675	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866857305	6.876e-07	2.053e-06	1.367e-06	0	2.999e-05	0	0	.	.	2.999e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.483	0.36807	P	0.057	0.26280	B	0.000431	0.44522	D	0.244651	0.641972	0.30608	N	2.34	0.67151	M	.	.	.	.	.	.	.	.	-0.7477	0.58055	T	0.127	0.43462	T	10	0.3451473	0.51494	T	0.020117	0.42647	T	0.096	0.27654	0.336	0.32491	0.345859378078	0.34197	0.1783097779329804	0.17749	0.010741408872	0.00990	0.362168550491	0.19702	T	0.029575	0.21161	T	-0.135658	0.30584	T	-0.43264	0.29636	T	0.74590927362442	0.43058	D	0.844715	0.52235	T	0.30360717	0.53226	0.42711985	0.66467	0.30360717	0.53227	0.42711985	0.66467	.	.	.	.	.	0.54	0.74232	A	.;.	.;.	2.826069	0.37245	20.4	0.99212663506296006	0.55655	0.91102	0.52864	D	AEFI	0.434504	0.49552	N	0.112744732671943	0.47055	2.936776	0.169067475961984	0.48160	3.035824	0.728346301735861	0.23014	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.5	5.5	0.81386	2.324000	0.43491	6.634000	0.56161	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.053000	0.15439	0.0:0.0:0.8429:0.1571	13.378	0.60194	509	0.75304	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	224.91	90	chr15	86262867	.	G	A	224.91	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.793e+00;DP=1376;ExcessHet=0.6776;FS=121.756;InbreedingCoeff=-0.1052;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.46;ReadPosRankSum=0.486;SOR=9.308	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:115,28:143:54:.:.:54,0,2388	17	0	4	0
chr15	86279695	86279695	A	G	exonic	AGBL1	.	nonsynonymous SNV	AGBL1:NM_152336:exon16:c.A2132G:p.Y711C,	Corneal dystrophy, Fuchs endothelial, 8, Autosomal dominant	.	431	1084	7	0	0	7	0.00321839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.991	D	0.000	D	0.999	D	3.285	M	2.59	T	-0.833	T	0.077	T	0.455	3.330	17.21	5.3	2.230	5.608	14.579	0.285	.	0.0052	0.0129792	0.0059	0.0171	0.0007	0.0276	0.0067	0.0009	0.0089	0.0117	0.0054786	847	154602	rs117184817	0.0025	0.0025	0.0023	0.0027	0.0260	0.0024	0.0024	0.0247	0.0241	0.0145	0.0006	0.0003	0.0260	0.0069	0.0014	0.0003	0.0058	0.0124	0.0063	0.0063	0.0060	0.0066	0.0240	0.0059	0.0058	0.0206	0.0193	0.0140	0	0.0035	0.0003	0.0240	0.0079	0	0.0006	0.0071	0.0121	.	.	.	.	.	.	1.0	0.90584	D	0.991	0.79672	D	0.000485	0.43931	D	0.156508	0.998598	0.45136	D	3.525	0.93020	H	.	.	.	.	.	.	.	.	-0.8327	0.53127	T	0.077	0.30767	T	10	0.009247124	0.00209	T	.	.	.	0.285	0.60338	.	.	0.334161072951	0.33023	0.6964127942494804	0.69582	0.0634574563292	0.07066	0.657508134842	0.61052	T	0.312259	0.68408	T	-0.408559	0.02032	T	-0.339371	0.40416	T	0.0513057525206132	0.05727	T	0.964104	0.86689	D	0.09889234	0.23330	0.15425266	0.36212	0.12693878	0.29719	0.15425266	0.36211	.	.	.	.	.	0.27	0.50417	B	.;.	.;.	4.624555	0.73463	26.0	0.9978628227455989	0.87219	0.95969	0.66943	D	AEFI	0.752142	0.69273	D	0.692809016155209	0.79161	7.019662	0.566726442581114	0.72569	5.830529	0.862163085737804	0.25247	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.3	5.3	0.74745	5.862000	0.69313	11.254000	0.90845	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.853000	0.40368	1.0:0.0:0.0:0.0	14.579	0.67871	518	0.74548	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2008.98	36	chr15	86279695	.	A	G	2008.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.540e-01;DP=897;ExcessHet=0.0000;FS=4.029;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.04;ReadPosRankSum=-1.849e+00;SOR=0.832	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1430	20	0	1	0
chr15	86546099	86546099	G	A	exonic	AGBL1	.	nonsynonymous SNV	AGBL1:NM_152336:exon20:c.G2783A:p.G928D,	Corneal dystrophy, Fuchs endothelial, 8, Autosomal dominant	.	431	1082	9	0	0	9	0.00414174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.91	T	0.007	B	0.011	B	0.042	U	0.856	N	-1.175	N	2.89	T	-0.933	T	0.007	T	0.105	-0.262	2.740	4.39	2.806	2.332	5.093	0.074	0.00173342372459	.	.	3.338e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs748513609	2.532e-05	2.531e-05	1.634e-05	3.44e-05	0.0010	1.869e-05	1.631e-05	0.0005	0.0003	0	0	3.83e-05	0	0	0.0010	5.398e-06	0.0001	0.0002	2.629e-05	2.627e-05	0	5.381e-05	0.0004	8.14e-06	5.14e-06	7.285e-05	3.027e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0004	.	.	.	.	.	.	0.007	0.14184	B	0.011	0.15521	B	0.041565	0.23935	U	0.178649	0.856145	0.28424	N	-0.16	0.04340	N	.	.	.	.	.	.	.	.	-0.9329	0.43710	T	0.007	0.02518	T	10	0.039373547	0.02422	T	0.001733	0.02908	T	0.074	0.21613	0.364	0.37036	0.0762999501168	0.06990	0.2671236134599523	0.26625	0.00984053840498	0.00893	0.343942165375	0.17026	T	0.010099	0.09146	T	-0.542701	0.00323	T	-0.721137	0.04741	T	0.0343353256395604	0.02694	T	0.50395	0.15873	T	0.064841464	0.13799	0.12162516	0.29344	0.064841464	0.13799	0.12162516	0.29343	-11.658	0.83145	D	.	.	0.096	0.25817	B	.;.;.	.;.;.	0.846251	0.12182	8.729	0.44207718207028368	0.03382	0.52542	0.29156	D	AEFI	0.093949	0.19002	N	-0.654466216543708	0.17330	0.890853	-0.428955381441083	0.24152	1.320969	2.1103849320965E-4	0.05948	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.38	4.39	0.52211	1.739000	0.37842	1.219000	0.24962	0.676000	0.76740	0.324000	0.25538	0.013000	0.20296	0.229000	0.22707	0.2354:0.0:0.7646:0.0	5.093	0.14054	926	0.17793	Peptidase M14, carboxypeptidase A;Peptidase M14, carboxypeptidase A;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1068.98	40	chr15	86546099	.	G	A	1068.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.367e+00;DP=790;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.20;ReadPosRankSum=-1.437e+00;SOR=0.618	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1122	20	0	1	0
chr15	86556250	86556250	A	G	exonic	AGBL1	.	nonsynonymous SNV	AGBL1:NM_152336:exon22:c.A3022G:p.K1008E,	Corneal dystrophy, Fuchs endothelial, 8, Autosomal dominant	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.002	B	0.003	B	.	.	1.000	N	0.695	N	2.97	T	-0.972	T	0.004	T	0.053	1.043	9.259	-3.07	-0.667	-0.019	5.149	0.007	.	0.0101	0.0091853	0.0032	0.0358	0.0024	0	0	0.0003	0.0023	0	0.0029883	462	154602	rs8027697	0.0012	0.0012	0.0014	0.0011	0.0343	0.0012	0.0012	0.0327	0.0320	0.0343	0.0030	3.828e-05	0	3.747e-05	0.0045	0.0003	0.0025	0.0002	0.0098	0.0099	0.0102	0.0094	0.0337	0.0094	0.0093	0.0323	0.0317	0.0337	0	0.0032	0	0	0	0.0102	0.0005	0.0043	0	.	.	.	.	.	.	0.002	0.09854	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	.	.	.	.	.	.	.	.	-0.9716	0.36862	T	0.004	0.01330	T	9	0.0030976534	0.00051	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.13417044514015097	0.13341	0.0101191796279	0.00928	0.33593338728	0.15828	T	0.002332	0.01729	T	-0.73992	0.00021	T	-0.809858	0.01668	T	0.00128273424086492	0.00013	T	0.291871	0.05342	T	0.048361775	0.08416	0.056080893	0.09957	0.035681266	0.04245	0.045619737	0.06179	.	.	.	.	.	0.075	0.05623	B	.;.	.;.	0.120087	0.05175	1.694	0.72296846955035388	0.09924	0.00871	0.03451	N	AEFDGHCIJ	0.032951	0.03821	N	-1.31514049118433	0.03501	0.1565053	-1.40212396969966	0.03231	0.1502883	0.999999997681145	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.47	-3.07	0.05038	-0.267000	0.08648	0.462000	0.18628	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.3783:0.1837:0.4379:0.0	5.149	0.14327	936	0.14734	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	569.98	44	chr15	86556250	.	A	G	569.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.97;DP=743;ExcessHet=0.0000;FS=2.561;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=0.875;SOR=1.034	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1139	20	0	1	0
chr15	88530840	88530840	T	C	exonic	DET1	.	nonsynonymous SNV	DET1:NM_001144074:exon2:c.A866G:p.D289G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.505	P	0.383	B	0.000	D	1.000	D	1.175	L	.	.	-0.761	T	0.199	T	0.564	3.915	19.91	6.17	2.371	7.297	16.003	0.318	0.00613817741382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.51853	D	0.009	0.66756	D	0.505	0.37231	P	0.27	0.39872	B	0.000016	0.62929	D	0.152324	0.999966	0.81001	D	1.385	0.34509	L	.	.	.	-3.25	0.65283	D	0.479	0.51672	-0.7606	0.57373	T	0.199	0.55428	T	9	0.52906257	0.63078	D	0.006138	0.16082	T	0.318	0.64008	0.456	0.52102	0.0675242888579	0.06100	0.595297197239194	0.59459	0.736621479123	0.63016	0.657280743122	0.61021	T	0.425961	0.77591	T	0.0656937	0.60321	T	-0.143412	0.59821	T	0.961599886417389	0.66126	D	0.915108	0.69728	D	0.35442662	0.57409	0.35527286	0.61058	0.35442662	0.57409	0.35527286	0.61057	-3.559	0.17871	T	.	.	0.422	0.62236	A	.;.;.;.	.;.;.;.	3.993478	0.58790	24.0	0.9968250448962318	0.79373	0.98529	0.83755	D	AEFBI	0.844511	0.76147	D	0.374329023459271	0.60035	4.188161	0.514087085182772	0.68935	5.28951	0.999999999890716	0.74766	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	7.279000	0.77969	7.849000	0.70877	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.003	0.80122	882	0.29131	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	499.17	33	chr15	88530840	.	T	C	499.17	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-3.938e+00;DP=1723;ExcessHet=1.1607;FS=140.205;InbreedingCoeff=-0.1507;MLEAC=5;MLEAF=0.125;MQ=60.00;MQRankSum=0.00;QD=0.81;ReadPosRankSum=0.604;SOR=10.408	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	15	0	5	1
chr15	88626703	88626703	G	A	exonic	AEN	.	nonsynonymous SNV	AEN:NM_022767:exon2:c.G494A:p.R165Q,	.	.	420	1090	12	0	0	12	0.00547445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.426	B	0.135	B	0.340	N	1.000	N	1.26	L	2.13	T	-1.039	T	0.035	T	0.183	2.386	13.94	3.1	1.080	0.266	3.987	0.018	.	.	0.0121805	0.0050	0	0.0002	0	0	6.108e-05	0.0068	0.0357	0.0044372	686	154602	rs200899445	0.0022	0.0022	0.0012	0.0032	0.0340	0.0021	0.0021	0.0330	0.0326	0	4.472e-05	0	7.557e-05	0	0.0029	5.486e-05	0.0024	0.0340	0.0012	0.0012	0.0007	0.0018	0.0377	0.0011	0.0010	0.0332	0.0315	4.81e-05	0	0	0	0.0002	0	0	1.47e-05	0.0009	0.0377	0.122	0.38633	T	0.198	0.46406	T	0.426	0.35504	B	0.135	0.33210	B	0.339945	0.13979	N	0.615929	1	0.08975	N	1.255	0.31814	L	2.13	0.19588	T	-1.82	0.44284	N	0.211	0.23506	-1.0389	0.17648	T	0.035	0.14943	T	10	0.0020347834	0.00029	T	.	.	.	0.018	0.03083	0.444	0.50139	0.165133752707	0.16062	0.24645600362431594	0.24559	0.100238913073	0.11331	0.280011594296	0.07494	T	0.025509	0.28454	T	-0.572887	0.00213	T	-0.569926	0.15456	T	0.0195877320220199	0.00661	T	0.783522	0.45286	T	0.077798955	0.17678	0.093652986	0.22132	0.077798955	0.17678	0.093652986	0.22131	-8.102	0.61764	D	.	.	0.079	0.12371	B	.;.	.;.	2.157721	0.27490	17.48	0.99757228965615097	0.84772	0.13591	0.17943	N	AEFBCI	0.071638	0.14270	N	-0.357069559436553	0.27013	1.478788	-0.295603272592338	0.28243	1.573179	0.999997118940257	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.32	3.1	0.34780	0.241000	0.17843	1.471000	0.26753	0.654000	0.53741	0.000000	0.06391	0.115000	0.22839	0.995000	0.73285	0.2925:0.1791:0.5283:0.0	3.987	0.09010	915	0.20917	Exonuclease, RNase T/DNA polymerase III|Exonuclease, RNase T/DNA polymerase III;Exonuclease, RNase T/DNA polymerase III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1126.98	37	chr15	88626703	.	G	A	1126.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.960;DP=921;ExcessHet=0.0000;FS=2.565;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.94;ReadPosRankSum=-2.180e-01;SOR=1.004	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1575	20	0	1	0
chr15	88630061	88630061	G	A	exonic	AEN	.	nonsynonymous SNV	AEN:NM_022767:exon4:c.G745A:p.G249S,	.	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	2.21	M	1.62	T	-0.753	T	0.206	T	0.6	4.218	21.9	5.63	2.647	4.921	18.645	0.308	.	7.7e-05	0.00958466	0.0050	9.787e-05	0.0002	0.0013	0	0.0001	0.0022	0.0349	0.0043919	679	154602	rs372899718	0.0020	0.0020	0.0012	0.0028	0.0303	0.0019	0.0019	0.0293	0.0289	0.0002	8.944e-05	0.0008	0.0005	0	0.0010	2.428e-05	0.0032	0.0303	0.0013	0.0013	0.0007	0.0019	0.0348	0.0011	0.0011	0.0305	0.0289	0.0002	0	6.535e-05	0.0014	0.0013	0	0	0	0.0009	0.0348	0.094	0.31383	T	0.067	0.44302	T	1.0	0.90584	D	0.999	0.92359	D	0.000012	0.62929	D	0.000000	1	0.81001	D	2.105	0.58435	M	1.62	0.28189	T	-5.29	0.84315	D	0.491	0.52475	-0.7526	0.57799	T	0.206	0.56499	T	10	0.004793614	0.00101	T	.	.	.	0.308	0.62947	.	.	0.525205403968	0.52167	0.37011107964276724	0.36925	0.364911905258	0.38099	0.574573040009	0.49323	T	0.061505	0.31672	T	-0.387362	0.02797	T	-0.30482	0.44212	T	0.0890674717291404	0.11107	T	0.836716	0.50835	T	0.54602003	0.69734	0.5121761	0.71811	0.54602003	0.69735	0.5121761	0.71812	-8.073	0.61567	D	.	.	0.148	0.32780	B	.	.	4.020936	0.59386	24.1	0.99837386479123691	0.91800	0.96310	0.68515	D	AEFGBCI	0.735217	0.68110	D	0.662009052426187	0.77146	6.619264	0.606903631807125	0.75438	6.310915	0.999999999999988	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.702456	0.68683	0	0.723	0.93126	0	.	.	5.63	5.63	0.86108	6.009000	0.70403	9.821000	0.81804	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.685000	0.33688	0.0:0.0:1.0:0.0	18.645	0.91366	919	0.19497	Exonuclease, RNase T/DNA polymerase III|Exonuclease, RNase T/DNA polymerase III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1753.98	36	chr15	88630061	.	G	A	1753.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.094;DP=813;ExcessHet=0.0000;FS=2.405;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.14;ReadPosRankSum=0.897;SOR=0.994	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1300	20	0	1	0
chr15	88630167	88630167	G	A	exonic	AEN	.	nonsynonymous SNV	AEN:NM_022767:exon4:c.G851A:p.C284Y,	.	.	415	1059	46	2	0	50	0.0230627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.91	T	0.042	B	0.037	B	.	.	1.000	N	0.345	N	2.27	T	-0.980	T	0.012	T	0.103	-0.508	1.677	-10.7	-2.304	-1.748	10.604	0.016	.	0.0057	0.00778754	0.0096	0.0011	0.0056	0	0.0060	0.0086	0.0121	0.0278	0.0083569	1292	154602	rs118097475	0.0084	0.0084	0.0078	0.0091	0.0266	0.0083	0.0083	0.0257	0.0253	0.0011	0.0057	0.0088	2.519e-05	0.0064	0.0101	0.0078	0.0072	0.0266	0.0069	0.0069	0.0070	0.0069	0.0249	0.0066	0.0064	0.0213	0.0199	0.0011	0.0165	0.0107	0.0081	0	0.0067	0.0102	0.0087	0.0095	0.0249	0.831	0.02876	T	1.0	0.01155	T	0.014	0.16867	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	2.27	0.17431	T	-0.1	0.08495	N	0.074	0.04790	-0.9803	0.34932	T	0.012	0.04605	T	9	0.002837807	0.00045	T	.	.	.	0.016	0.02506	.	.	0.0482279557977	0.04254	0.29859636252446525	0.29772	0.150128431297	0.16938	0.263610422611	0.05328	T	0.027685	0.20221	T	-0.692297	0.00041	T	-0.746263	0.03633	T	0.00270222386677056	0.00028	T	0.461754	0.13398	T	0.08648601	0.20104	0.081791975	0.18616	0.08648601	0.20104	0.081791975	0.18616	-5.119	0.38107	T	.	.	0.069	0.03231	B	.	.	-1.185169	0.00546	0.013	0.65711679914311028	0.07850	0.08236	0.14191	N	AEFGBCI	0.051128	0.09002	N	-1.79489216728866	0.00558	0.02402399	-1.89809837427172	0.00494	0.0218834	0.999999999999766	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.37	-10.7	0.00191	-1.813000	0.01819	-2.601000	0.03561	-0.798000	0.03190	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2179:0.3231:0.459:0.0	10.604	0.44574	919	0.19497	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2586.98	36	chr15	88630167	.	G	A	2586.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.659;DP=969;ExcessHet=0.0000;FS=1.815;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=0.575;SOR=0.622	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1300	20	0	1	0
chr15	88845663	88845663	A	G	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon7:c.A1210G:p.I404V	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	.	0	1493	28	1	0	30	0.00994695	.	.	1196137	not_specified|Spondyloepiphyseal_dysplasia,_Kimberley_type|Spondyloepimetaphyseal_dysplasia,_aggrecan_type|Short_stature_and_advanced_bone_age,_with_or_without_early-onset_osteoarthritis_and/or_osteochondritis_dissecans|not_provided	MedGen:CN169374|MONDO:MONDO:0012019,MedGen:C1842149,OMIM:608361,Orphanet:93283|MONDO:MONDO:0013014,MedGen:C2748544,OMIM:612813,Orphanet:171866|MONDO:MONDO:0100462,MedGen:C3665488,OMIM:165800,Orphanet:251262|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.34	T	0.0	B	0.001	B	0.285	N	1.000	N	0.755	N	4.71	T	-0.911	T	0.004	T	0.076	-0.005	3.989	-3.01	-0.392	-0.295	2.168	0.024	.	7.7e-05	0.0267572	0.0152	0.0001	0.0009	0.0124	0	0.0002	0.0178	0.1022	0.0133569	2065	154602	rs148070768	0.0065	0.0065	0.0039	0.0091	0.0968	0.0063	0.0063	0.0950	0.0943	0.0001	0.0004	0	0.0067	0	0.0035	0.0002	0.0097	0.0968	0.0042	0.0042	0.0027	0.0058	0.1082	0.0039	0.0038	0.1006	0.0975	0.0005	0	0.0005	0	0.0149	0	0	0.0001	0.0014	0.1082	0.243	0.17761	T	1.0	0.06643	T	0.0	0.02946	B	0.0	0.01387	B	0.284555	0.03855	N	1.691170	1	0.08975	N	0.83	0.20963	L	4.71	0.06291	T	-0.3	0.11913	N	0.037	0.02964	-0.9114	0.46682	T	0.004	0.01261	T	10	0.0017319918	0.00022	T	.	.	.	0.024	0.04979	.	.	.	.	0.35669920752929657	0.35583	0.163701473384	0.18462	0.282205790281	0.07802	T	0.095098	0.39551	T	-0.716182	0.00029	T	-0.787243	0.02241	T	0.000911843834536322	0.00009	T	0.567243	0.20674	T	0.041423783	0.06096	0.047140528	0.06726	0.044479884	0.07116	0.047140528	0.06726	-2.227	0.04173	T	0.12550148330874186	0.12498	0.129	0.27493	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.842136	0.01027	0.043	0.47514820808408115	0.03891	0.01218	0.04323	N	AEFDBI	0.026517	0.02006	N	-1.12570016169177	0.06189	0.2842374	-1.17513049505909	0.06327	0.3042367	0.0870381725852015	0.16024	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.19	-3.01	0.05132	-0.086000	0.11198	-1.744000	0.04806	-0.053000	0.16966	0.319000	0.25494	0.000000	0.08366	0.078000	0.17132	0.2754:0.1592:0.4103:0.1551	2.168	0.03608	969	0.06854	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	6414.68	33	chr15	88845663	.	A	G	6414.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.100e-01;DP=1254;ExcessHet=0.3300;FS=1.105;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.36;ReadPosRankSum=-9.120e-01;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485	18	0	3	0
chr15	88849458	88849458	C	A	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon10:c.C1753A:p.R585S	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	.	1	1493	27	1	0	29	0.00961857	.	.	1196140	Spondyloepimetaphyseal_dysplasia,_aggrecan_type|Spondyloepiphyseal_dysplasia,_Kimberley_type|Short_stature_and_advanced_bone_age,_with_or_without_early-onset_osteoarthritis_and/or_osteochondritis_dissecans|not_provided	MONDO:MONDO:0013014,MedGen:C2748544,OMIM:612813,Orphanet:171866|MONDO:MONDO:0012019,MedGen:C1842149,OMIM:608361,Orphanet:93283|MONDO:MONDO:0100462,MedGen:C3665488,OMIM:165800,Orphanet:251262|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.77	T	0.058	B	0.06	B	0.157	N	1.000	N	-0.44	N	3.21	T	-0.962	T	0.008	T	0.212	1.546	11.12	4.19	1.269	1.504	14.545	0.084	.	.	0.0269569	0.0191	0.0002	0.0010	0.0147	0.0002	0.0002	0.0227	0.1549	0.013027	2014	154602	rs144501729	0.0064	0.0065	0.0038	0.0091	0.0975	0.0063	0.0063	0.0957	0.0950	0.0002	0.0004	0	0.0066	5.731e-05	0.0034	0.0002	0.0092	0.0975	0.0041	0.0041	0.0026	0.0057	0.1071	0.0038	0.0037	0.0995	0.0965	0.0005	0	0.0005	0	0.0135	9.409e-05	0	0.0001	0.0014	0.1071	0.2	0.23450	T	0.993	0.09457	T	0.003	0.11197	B	0.01	0.14941	B	0.157313	0.17773	N	0.320773	1	0.08975	N	-0.245	0.03879	N	3.21	0.07125	T	-2.86	0.62630	D	0.219	0.31027	-0.9616	0.38877	T	0.008	0.02760	T	10	0.0015206337	0.00017	T	.	.	.	0.084	0.24469	.	.	.	.	0.3371614835293057	0.33629	0.222995365461	0.24826	0.350890189409	0.18053	T	0.082465	0.36833	T	-0.658143	0.00064	T	-0.640676	0.09620	T	0.0262152418393855	0.01435	T	0.215178	0.05801	T	0.29870522	0.52788	0.28842452	0.54859	0.3480815	0.56917	0.28842452	0.54858	-4.164	0.26228	T	0.1278163035417712	0.13149	0.388	0.60789	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.550133	0.33007	19.21	0.97284759840530921	0.33200	0.19452	0.20666	N	AEFDBI	0.306490	0.41362	N	-0.846953672655053	0.12124	0.5891365	-0.724503995040523	0.16352	0.8645878	0.832684827162608	0.24721	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.11	4.19	0.48645	0.915000	0.28260	2.769000	0.34658	0.599000	0.40250	0.003000	0.16062	0.994000	0.32194	0.873000	0.41610	0.1471:0.8529:0.0:0.0	14.545	0.67609	966	0.07191	Link domain|Link domain|Link domain;Link domain|Link domain|Link domain;Link domain|Link domain|Link domain;Link domain|Link domain|Link domain;.;.;Link domain|Link domain|Link domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	3690.68	33	chr15	88849458	.	C	A	3690.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.20;DP=915;ExcessHet=0.3300;FS=3.351;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=0.667;SOR=0.902	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1277	18	0	3	0
chr15	88849587	88849587	G	A	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon10:c.G1882A:p.A628T	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	.	0	1494	27	1	0	29	0.0096122	.	.	1196141	Spondyloepimetaphyseal_dysplasia,_aggrecan_type|Spondyloepiphyseal_dysplasia,_Kimberley_type|not_provided|Short_stature_and_advanced_bone_age,_with_or_without_early-onset_osteoarthritis_and/or_osteochondritis_dissecans	MONDO:MONDO:0013014,MedGen:C2748544,OMIM:612813,Orphanet:171866|MONDO:MONDO:0012019,MedGen:C1842149,OMIM:608361,Orphanet:93283|MedGen:C3661900|MONDO:MONDO:0100462,MedGen:C3665488,OMIM:165800,Orphanet:251262	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.01	D	0.885	P	0.666	P	0.105	N	0.773	D	2.275	M	2.85	T	-0.966	T	0.057	T	0.38	3.399	17.48	1.99	0.181	0.231	13.965	0.147	.	8.2e-05	0.0267572	0.0197	0.0002	0.0009	0.0136	0	0.0002	0.0252	0.1124	0.0132081	2042	154602	rs200412974	0.0065	0.0065	0.0039	0.0091	0.0979	0.0064	0.0063	0.0962	0.0955	0.0001	0.0004	0	0.0065	0	0.0035	0.0002	0.0094	0.0979	0.0041	0.0041	0.0026	0.0057	0.1074	0.0038	0.0037	0.0997	0.0967	0.0005	0	0.0005	0	0.0133	0	0	0.0001	0.0014	0.1074	0.001	0.78490	D	0.219	0.37037	T	0.839	0.46454	P	0.54	0.48825	P	0.104549	0.19698	N	0.269330	0.772677	0.34170	D	.	.	.	2.85	0.10578	T	-2.73	0.58085	D	0.245	0.40063	-0.9659	0.38033	T	0.057	0.24092	T	10	0.0042779446	0.00086	T	.	.	.	0.147	0.38986	.	.	.	.	0.46768654305253654	0.46687	0.191107692456	0.21433	0.284922510386	0.08188	T	0.095092	0.39551	T	-0.482483	0.00715	T	-0.45155	0.27525	T	0.0876491242202929	0.10937	T	0.89531	0.63576	D	0.3168548	0.54373	0.39760146	0.64370	0.23576613	0.46417	0.39760146	0.64370	-7.55	0.57961	D	0.12764837360086825	0.13104	0.160	0.35267	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.544704	0.32927	19.19	0.99676016819602753	0.78912	0.58370	0.30624	D	AEFDBCI	0.195391	0.32243	N	0.158728002653882	0.49225	3.125372	0.0978900643823193	0.44442	2.725943	0.0515967608160388	0.14878	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.11	1.99	0.25423	0.276000	0.18478	1.680000	0.28007	0.676000	0.76740	0.982000	0.35529	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.4181:0.5819	13.965	0.63714	966	0.07191	Link domain|Link domain|Link domain|Link domain;Link domain|Link domain|Link domain|Link domain;Link domain|Link domain|Link domain|Link domain;Link domain|Link domain|Link domain|Link domain;.;.;Link domain|Link domain|Link domain|Link domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	6976.68	36	chr15	88849587	.	G	A	6976.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.43;DP=1486;ExcessHet=0.3300;FS=1.126;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=-1.421e+00;SOR=0.619	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	3	0
chr15	88856755	88856755	-	ATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAG	exonic	ACAN	.	nonframeshift insertion	ACAN:NM_001135:exon12:c.4170_4171insATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAG:p.V1407_E1408insDEISGLPSGEVLETTAPGV	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1038367	not_provided	MedGen:C3661900	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	.	.	.	.	1.16e-06	0.0003	2.329e-06	0	3.046e-05	0	0	.	.	0	0	0	3.046e-05	0	0	0	0	0	3.136e-05	6.262e-05	3.069e-05	3.207e-05	5.872e-05	5.2e-06	1.95e-06	.	.	5.872e-05	0	0	0	0	0	0	3.673e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	1203.07	37	chr15	88856755	.	C	CATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAG	1203.07	.	AC=1;AF=0.028;AN=36;DP=1460;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.4474;MLEAC=1;MLEAF=0.028;MQ=49.17;QD=11.79;SOR=0.519	GT:AD:DP:GQ:PL	./.:156,0:156:0:0,0,0	17	0	1	3
chr15	88857732	88857732	G	T	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon12:c.G5147T:p.S1716I	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	.	0	1492	29	1	0	31	0.0102819	.	.	1196144	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.002	N	1.000	D	2.65	M	3.62	T	-1.064	T	0.022	T	0.506	3.578	18.23	4.92	1.423	5.118	15.501	0.164	.	8.2e-05	0.0295527	0.0163	0.0003	0.0009	0.0205	0	0.0002	0.0189	0.1060	0.0144241	2230	154602	rs79925540	0.0070	0.0070	0.0044	0.0098	0.1001	0.0069	0.0069	0.0983	0.0976	0.0004	0.0004	0	0.0184	0	0.0038	0.0002	0.0111	0.1001	0.0047	0.0047	0.0031	0.0064	0.1106	0.0044	0.0043	0.1028	0.0997	0.0006	0	0.0005	0	0.0268	0	0	0.0001	0.0014	0.1106	0.0	0.91255	D	0.415	0.24694	T	.	.	.	.	.	.	0.001881	0.37789	N	0.000000	0.874614	0.35629	D	.	.	.	3.55	0.04746	T	-3.94	0.73684	D	0.15	0.45331	-1.0639	0.10807	T	0.022	0.09238	T	10	0.00233683	0.00034	T	.	.	.	0.164	0.42212	.	.	.	.	0.7197601509944354	0.71919	0.836619254689	0.67844	0.507168650627	0.39826	T	.	.	.	-0.404933	0.02149	T	-0.331438	0.41309	T	0.0535739177832831	0.06117	T	0.824218	0.49484	T	0.6429832	0.74990	0.585032	0.75937	0.6574989	0.75766	0.585032	0.75938	-8.981	0.67575	D	0.12465354892255805	0.12266	0.315	0.54123	B	.;.;.;.;.;.	.;.;.;.;.;.	3.917389	0.57168	23.8	0.99638083251245502	0.76449	0.98419	0.82582	D	AEFBI	0.654281	0.62702	D	0.730866682522821	0.81658	7.573601	0.68133681451556	0.80966	7.417242	0.970230948880462	0.29192	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.86	4.92	0.64147	4.255000	0.58595	8.457000	0.77235	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1389:0.8611:0.0	15.501	0.75431	969	0.06854	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	5401.68	100	chr15	88857732	.	G	T	5401.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.42;DP=2570;ExcessHet=0.3300;FS=9.376;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=-1.659e+00;SOR=1.216	GT:AD:DP:GQ:PL	0/0:130,0:130:99:0,120,1800	18	0	3	0
chr15	88858152	88858152	G	A	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon12:c.G5567A:p.S1856N	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	.	0	1519	3	0	0	3	0.000986518	.	.	376734	not_provided|Meniere_disease|Inborn_genetic_diseases|not_specified	MedGen:C3661900|MONDO:MONDO:0007972,MedGen:C0025281,OMIM:156000|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.002	N	1.000	N	2.76	M	3.79	T	-1.094	T	0.066	T	0.254	3.899	19.82	5.56	2.618	7.142	18.513	0.225	0.013211905361	0.0011	.	0.0014	0	0.0007	0	0.0026	0.0019	0	0.0007	0.0012936	200	154602	rs200762388	0.0014	0.0014	0.0013	0.0014	0.0014	0.0013	0.0013	0.0014	0.0014	0.0001	0.0006	0.0021	0	0.0026	0.0003	0.0014	0.0016	0.0008	0.0010	0.0010	0.0010	0.0010	0.0014	0.0008	0.0008	0.0012	0.0011	0.0002	0	0.0008	0.0017	0	0.0018	0	0.0014	0.0009	0.0004	0.003	0.78490	D	0.024	0.56640	D	.	.	.	.	.	.	0.001877	0.37789	N	0.000000	0.999371	0.21289	N	.	.	.	3.79	0.04046	T	-2.32	0.53096	N	0.393	0.52475	-1.0941	0.04884	T	0.066	0.27191	T	10	0.03621176	0.01907	T	0.013212	0.32434	T	0.225	0.52323	.	.	0.75628909357	0.75407	0.6005349000290376	0.59984	0.746177584644	0.63531	0.549843132496	0.45835	T	.	.	.	-0.441223	0.01272	T	-0.413827	0.31786	T	0.0716508595910453	0.08881	T	0.850115	0.54290	D	0.30878377	0.53681	0.33646685	0.59448	0.30878377	0.53681	0.33646685	0.59448	-9.904	0.75176	D	0.12656324713814032	0.12801	0.448	0.63820	A	.;.;.;.;.;.	.;.;.;.;.;.	4.356630	0.66959	25.0	0.99670709967959203	0.78587	0.98354	0.81929	D	AEFBI	0.849396	0.76622	D	0.89993245169139	0.91756	11.04791	0.859269497821852	0.93545	12.11461	0.999995352848182	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.56	5.56	0.83678	6.788000	0.74893	11.787000	0.96267	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.931000	0.46843	0.0:0.0:1.0:0.0	18.513	0.90875	969	0.06854	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2076.98	145	chr15	88858152	.	G	A	2076.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.117e+00;DP=2548;ExcessHet=0.0000;FS=1.249;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=1.22;SOR=0.824	GT:AD:DP:GQ:PL	0/0:123,0:123:99:0,120,1800	20	0	1	0
chr15	88858385	88858385	G	C	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon12:c.G5800C:p.V1934L	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	.	0	1492	29	1	0	31	0.0102819	.	.	1196146	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.21	T	0.884	P	0.596	P	0.147	N	0.810	N	2.61	M	4.2	T	-1.101	T	0.008	T	0.152	0.930	8.789	-3.18	-0.447	0.041	12.503	0.121	.	.	0.0303514	0.0164	0.0003	0.0009	0.0216	0	0.0002	0.0189	0.1061	0.0145276	2246	154602	rs76282091	0.0071	0.0071	0.0044	0.0098	0.1002	0.0069	0.0069	0.0984	0.0977	0.0004	0.0004	0	0.0188	0	0.0038	0.0002	0.0111	0.1002	0.0047	0.0047	0.0031	0.0064	0.1095	0.0044	0.0043	0.1018	0.0987	0.0006	0	0.0005	0	0.0284	0	0	0.0001	0.0014	0.1095	0.016	0.59928	D	0.057	0.46406	T	.	.	.	.	.	.	0.147168	0.18089	N	0.300241	1	0.08975	N	.	.	.	4.2	0.03354	T	-1.96	0.45404	N	0.117	0.17553	-1.1006	0.04020	T	0.008	0.02926	T	10	0.0016039312	0.00019	T	.	.	.	0.121	0.33580	.	.	.	.	0.29420148835687954	0.29333	0.485768874065	0.47451	0.327430605888	0.14546	T	.	.	.	-0.580975	0.00190	T	-0.584309	0.14162	T	0.0615173059497363	0.07405	T	0.853715	0.55479	D	0.13021646	0.30391	0.13735288	0.32833	0.13426939	0.31202	0.13735288	0.32832	-6.254	0.51410	T	0.12705327745958234	0.12940	0.369	0.59522	A	.;.;.;.;.;.	.;.;.;.;.;.	0.844045	0.12159	8.707	0.88342601587151715	0.17902	0.12361	0.17221	N	AEFBI	0.092211	0.18671	N	-0.470338000125133	0.23056	1.235475	-0.666502628490601	0.17801	0.9481311	0.0137201645894468	0.12501	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.56	-3.18	0.04867	0.054000	0.14087	-0.161000	0.11322	-0.113000	0.14837	0.007000	0.17678	0.000000	0.08366	0.702000	0.34203	0.4936:0.0:0.5064:0.0	12.503	0.55307	969	0.06854	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	5327.68	97	chr15	88858385	.	G	C	5327.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.255;DP=1899;ExcessHet=0.3300;FS=0.775;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=14.17;ReadPosRankSum=-2.300e-02;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:80,0:80:99:.:.:0,120,1800	18	0	3	0
chr15	88913307	88913307	G	T	exonic	MFGE8	.	nonsynonymous SNV	MFGE8:NM_001114614:exon1:c.C13A:p.R5S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.998	D	0.989	D	0.368	N	0.965	N	0	N	-4.76	D	0.609	D	0.907	D	0.465	-0.447	1.925	1.92	0.270	-0.296	8.843	0.395	.	.	0.000599042	0.0010	0	0	0	.	0.0012	0	0.0010	0.0003752	58	154602	rs541808249	0.0031	0.0029	0.0032	0.0030	0.0037	0.0030	0.0030	0.0034	0.0034	0.0005	0.0037	0	0	0.0030	0.0015	0.0035	0.0030	0.0007	0.0023	0.0023	0.0024	0.0022	0.0036	0.0021	0.0021	0.0031	0.0030	0.0005	0	0.0036	0	0	0.0029	0.0068	0.0035	0.0043	0.0006	0.05	0.91255	D	0.057	0.46406	T	0.98	0.59353	D	0.894	0.63417	P	0.368314	0.04346	N	1.382810	1	0.25939	N	2.005	0.54552	M	-4.92	0.98371	D	-0.56	0.18459	N	0.185	0.23758	0.609	0.92020	D	0.907	0.96902	D	10	0.012726665	0.00272	T	.	.	.	0.395	0.71004	.	.	0.913854725395	0.91299	0.7229690774450754	0.72240	0.155256707888	0.17525	0.630314350128	0.57190	T	0.080609	0.36404	T	-0.174961	0.24489	T	-0.0268326	0.68578	D	0.0265965448380309	0.01487	T	0.568443	0.20183	T	0.085971884	0.19964	0.070137635	0.14867	0.085971884	0.19963	0.070137635	0.14866	-4.393	0.29462	T	.	.	0.324	0.55025	B	.;.;.;.;.	.;.;.;.;.	0.857941	0.12304	8.843	0.81081382692621717	0.13510	0.17658	0.19932	N	ALL	0.087166	0.17675	N	-0.931887144734954	0.10103	0.4811884	-1.07958604819307	0.08103	0.3969441	0.999999999999989	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	2.86	1.92	0.24912	-0.260000	0.08730	0.234000	0.16225	-1.205000	0.01357	0.002000	0.15269	0.957000	0.29195	0.182000	0.21359	0.1284:0.0:0.8716:0.0	8.843	0.34312	958	0.09170	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	926.11	27	chr15	88913307	.	G	T	926.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.784;DP=546;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.44;ReadPosRankSum=0.985;SOR=0.654	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,591	19	0	2	0
chr15	89285100	89285100	A	G	exonic	FANCI	.	nonsynonymous SNV	FANCI:NM_001113378:exon18:c.A1703G:p.H568R	Fanconi anemia, complementation group I	.	0	1521	1	0	0	1	0.000328623	.	.	529450	Fanconi_anemia_complementation_group_I|Fanconi_anemia|FANCI-related_disorder	MONDO:MONDO:0012186,MedGen:C1836861,OMIM:609053,Orphanet:84|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.37	T	0.004	B	0.002	B	0.005	N	1.000	D	1.61	L	1.62	T	-1.055	T	0.041	T	0.255	0.235	5.269	-4.29	-1.115	2.880	1.124	0.126	0.00240999674037	.	0.000998403	0.0004	0	0	0	0	0	0.0011	0.0026	0.0003169	49	154602	rs555480773	0.0002	0.0002	0.0001	0.0002	0.0025	0.0001	0.0001	0.0022	0.0021	0	0	0	0	0	0	4.497e-06	0.0001	0.0025	5.91e-05	6.562e-05	5.141e-05	6.713e-05	0.0019	3.075e-05	2.209e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	0.459	0.08762	T	0.22	0.26066	T	0.004	0.12183	B	0.002	0.06944	B	0.004681	0.33486	N	0.374940	0.999204	0.21509	N	1.1	0.28011	L	1.62	0.28189	T	-0.42	0.14978	N	0.296	0.33469	-1.0554	0.12934	T	0.041	0.17446	T	10	0.0076642036	0.00174	T	0.00241	0.04729	T	0.126	0.34673	0.25	0.18757	0.201204373187	0.19734	0.16220117922469793	0.16140	0.0159091030444	0.01523	0.385336816311	0.23010	T	0.054042	0.29613	T	-0.520433	0.00437	T	-0.52558	0.19731	T	0.0187088320047595	0.00584	T	0.729627	0.35112	T	0.019691292	0.00505	0.0293901	0.01272	0.018966703	0.00421	0.030667955	0.01550	-1.995	0.03162	T	0.2526359573915917	0.34178	0.074	0.05188	B	.;.	.;.	1.666075	0.21242	15.11	0.3749864601610039	0.02474	0.93029	0.57147	D	AEFDBI	0.331164	0.43098	N	-0.722341876853262	0.15395	0.7754516	-0.713636403176714	0.16621	0.880153	0.926518999595635	0.26854	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	-4.29	0.03465	2.871000	0.48157	2.044000	0.30313	0.756000	0.94297	0.986000	0.36153	0.000000	0.08366	0.998000	0.85391	0.4597:0.1125:0.2316:0.1962	1.124	0.01625	935	0.14827	.;FANCI helical domain 2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1213.98	33	chr15	89285100	.	A	G	1213.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.124e+00;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.06;ReadPosRankSum=-6.700e-02;SOR=0.642	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1271	20	0	1	0
chr15	89321792	89321792	C	T	exonic	POLG	.	nonsynonymous SNV	POLG:NM_001126131:exon16:c.G2542A:p.G848S	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	28541	Progressive_sclerosing_poliodystrophy|Mitochondrial_DNA_depletion_syndrome_4b|Sensory_ataxic_neuropathy,_dysarthria,_and_ophthalmoparesis|Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_1|Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_1|Hereditary_spastic_paraplegia|POLG-Related_Spectrum_Disorders|Mitochondrial_DNA_depletion_syndrome|Inborn_genetic_diseases|Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_digenic|Mitochondrial_DNA_depletion_syndrome_1|not_provided|POLG-related_disorder|Mitochondrial_disease	MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:726|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662,Orphanet:298|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459,Orphanet:70595|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450,Orphanet:254886|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MedGen:C4763519|MONDO:MONDO:0018158,MedGen:C0342782,OMIM:PS603041,Orphanet:35698|MeSH:D030342,MedGen:C0950123|MedGen:C1868097|MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041,Orphanet:298|MedGen:C3661900|MedGen:CN180166|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	A	3.245	M	-5.3	D	1.065	D	0.979	D	0.987	5.366	34	4.56	1.269	7.417	15.416	0.967	0.5463482847	0.0003	0.000199681	0.0002	0.0002	0.0003	0	0	0.0002	0	0	0.0001746	27	154602	rs113994098	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	0.0001	0.0001	0	0	0	0	0.0004	0.0002	0	0.0003	0.0003	0.0002	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	0.0002	0	0.0001	0	0	0	0	0.0005	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.047783	1	0.81001	A	3.545	0.93219	H	-5.3	0.98969	D	-5.93	0.89029	D	0.972	0.99670	1.065	0.98463	D	0.979	0.99346	D	9	0.94880635	0.94211	D	0.546348	0.95798	D	0.967	0.99571	.	.	0.984020410405	0.98384	0.9273659732005204	0.92714	0.655678155703	0.58603	0.804255664349	0.82612	D	0.966291	0.99599	D	0.32141	0.84572	D	0.590349	0.96894	D	0.736728595521352	0.42562	D	0.998268	0.99177	D	0.91323406	0.92598	0.7882541	0.87537	0.9256498	0.93804	0.8135046	0.89124	-12.583	0.87574	D	0.7219562996968645	0.80311	0.892	0.82246	P	.;.	.;.	5.218561	0.87585	29.3	0.99866433598043791	0.94457	0.99438	0.96031	D	ALL	0.891302	0.82715	D	0.81051502627148	0.86760	8.989897	0.719217282461928	0.83839	8.128029	0.999999999999994	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.5	4.56	0.55644	7.498000	0.80396	7.672000	0.64834	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.1402:0.8598:0.0:0.0	15.416	0.74694	946	0.12043	DNA-directed DNA polymerase, family A, palm domain;DNA-directed DNA polymerase, family A, palm domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2180.98	33	chr15	89321792	.	C	T	2180.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.48;DP=868;ExcessHet=0.0000;FS=0.670;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=0.514;SOR=0.787	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1376	20	0	1	0
chr15	89333605	89333605	-	TGC	exonic	POLG	.	nonframeshift insertion	POLG:NM_001126131:exon2:c.149_150insGCA:p.Q55_P56insQ	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	16448.55	79	chr15	89333596	.	TTGCTGCTGC	TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC	16448.55	.	AC=11,1,2;AF=0.262,0.024,0.048;AN=42;BaseQRankSum=0.208;DP=1777;ExcessHet=6.1794;FS=1.163;InbreedingCoeff=-0.2857;MLEAC=11,1,2;MLEAF=0.262,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=18.34;ReadPosRankSum=0.585;SOR=0.826	GT:AD:DP:GQ:PL	0/1:32,42,0,0:76:99:1454,0,1041,1617,1209,3013,1617,1209,3013,3013	8	0	10	0
chr15	89333597	89333605	TGCTGCTGC	-	exonic	POLG	.	nonframeshift deletion	POLG:NM_001126131:exon2:c.150_158del:p.Q53_Q55del	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	203057	Inborn_genetic_diseases|not_specified|Hereditary_spastic_paraplegia|POLG-related_disorder|Progressive_sclerosing_poliodystrophy|not_provided|Mitochondrial_DNA_depletion_syndrome_4b|Sensory_ataxic_neuropathy,_dysarthria,_and_ophthalmoparesis|Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_1|Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_1|Mitochondrial_DNA_depletion_syndrome_1	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MedGen:CN180166|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:726|MedGen:C3661900|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662,Orphanet:298|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459,Orphanet:70595|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450,Orphanet:254886|MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041,Orphanet:298	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0022	0.0012	0.0025	0.0006	0.0027	0.0018	0.0033	0.0014683	227	154602	rs756833779	0.0024	0.0024	0.0024	0.0024	0.0035	0.0024	0.0023	0.0026	0.0025	0.0014	0.0014	7.735e-05	0.0020	0.0003	0.0035	0.0026	0.0027	0.0024	0.0021	0.0021	0.0021	0.0021	0.0031	0.0019	0.0019	0.0024	0.0023	0.0015	0	0.0022	0.0003	0.0031	0.0002	0.0034	0.0027	0.0024	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	16448.55	79	chr15	89333596	.	TTGCTGCTGC	TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC	16448.55	.	AC=11,1,2;AF=0.262,0.024,0.048;AN=42;BaseQRankSum=0.208;DP=1777;ExcessHet=6.1794;FS=1.163;InbreedingCoeff=-0.2857;MLEAC=11,1,2;MLEAF=0.262,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=18.34;ReadPosRankSum=0.585;SOR=0.826	GT:AD:DP:GQ:PL	0/1:32,42,0,0:76:99:1454,0,1041,1617,1209,3013,1617,1209,3013,3013	8	0	10	0
chr15	89333605	89333605	-	TGCTGC	exonic	POLG	.	nonframeshift insertion	POLG:NM_001126131:exon2:c.149_150insGCAGCA:p.Q55_P56insQQ	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	16448.55	79	chr15	89333596	.	TTGCTGCTGC	TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC	16448.55	.	AC=11,1,2;AF=0.262,0.024,0.048;AN=42;BaseQRankSum=0.208;DP=1777;ExcessHet=6.1794;FS=1.163;InbreedingCoeff=-0.2857;MLEAC=11,1,2;MLEAF=0.262,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=18.34;ReadPosRankSum=0.585;SOR=0.826	GT:AD:DP:GQ:PL	0/1:32,42,0,0:76:99:1454,0,1041,1617,1209,3013,1617,1209,3013,3013	8	0	10	0
chr15	89629527	89629527	G	A	exonic	KIF7	.	nonsynonymous SNV	KIF7:NM_198525:exon17:c.C3365T:p.S1122L,	Acrocallosal syndrome, Autosomal recessive;Joubert syndrome 12, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1487616	Acrocallosal_syndrome	MONDO:MONDO:0008708,MedGen:C0796147,OMIM:200990,Orphanet:36	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.998	D	0.915	D	0.000	D	1.000	D	1.04	L	-0.49	T	-0.284	T	0.399	T	0.385	5.040	29.8	5.06	2.635	7.292	18.612	0.357	0.0845850513027	.	.	2.482e-05	9.662e-05	0	0.0002	0	0	0	0	1.94e-05	3	154602	rs202195179	2.743e-05	2.805e-05	2.594e-05	2.894e-05	0.0005	2.068e-05	1.82e-05	0.0003	0.0003	5.974e-05	0	0	0.0005	0	0	1.169e-05	1.657e-05	5.797e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0004	2.18e-06	8.2e-07	6.823e-05	2.855e-05	0	0	0	0	0.0004	0	0	0	0	0	0.013	0.53900	D	0.104	0.38160	T	0.996	0.68779	D	0.713	0.54588	P	0.000002	0.62929	D	0.059696	0.999997	0.58761	D	1.39	0.34934	L	-0.49	0.70365	T	-3.79	0.71639	D	0.519	0.54932	-0.2840	0.75431	T	0.399	0.75095	T	10	0.40828168	0.56046	T	0.084585	0.74358	D	0.357	0.67782	0.252	0.19067	0.877530423997	0.87633	0.17727664738547408	0.17646	0.139392655001	0.15712	0.61435854435	0.54931	T	0.273902	0.64637	T	-0.176116	0.24316	T	-0.198606	0.54779	T	0.8081294298172	0.46915	D	0.935906	0.76011	D	0.52987003	0.68823	0.38650832	0.63542	0.52987003	0.68824	0.38650832	0.63542	-11.359	0.81590	D	0.6062056579529129	0.67350	0.097	0.15654	B	.	.	4.823947	0.78594	26.9	0.99919470787117615	0.98654	0.98292	0.81328	D	AEFDGBCI	0.843716	0.76072	D	0.586554503509677	0.72336	5.789512	0.620709777671684	0.76445	6.492449	0.999999999999974	0.74766	0.631515	0.41029	0	0.577304	0.33150	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	5.06	5.06	0.67838	7.618000	0.82239	9.811000	0.81748	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.612	0.91242	850	0.35610	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2545.98	35	chr15	89629527	.	G	A	2545.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.79;DP=929;ExcessHet=0.0000;FS=0.493;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.37;ReadPosRankSum=0.891;SOR=0.764	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1267	20	0	1	0
chr15	89630403	89630403	G	A	exonic	KIF7	.	nonsynonymous SNV	KIF7:NM_198525:exon16:c.C3202T:p.R1068W,	Acrocallosal syndrome, Autosomal recessive;Joubert syndrome 12, Autosomal recessive	.	0	1513	9	0	0	9	0.0029654	.	.	529144	Acrocallosal_syndrome|not_provided|KIF7-related_disorder	MONDO:MONDO:0008708,MedGen:C0796147,OMIM:200990,Orphanet:36|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	1.87	L	-0.61	T	-0.013	T	0.479	T	0.685	3.880	19.72	4.3	1.143	3.934	14.993	0.525	0.292663992437	0.0002	0.000199681	0.0006	0	0.0003	0.0002	0	0.0007	0	0.0011	0.0003816	59	154602	rs147191956	0.0003	0.0003	0.0003	0.0004	0.0019	0.0003	0.0003	0.0011	0.0008	0.0001	0.0002	0.0042	0.0004	0	0.0019	0.0002	0.0005	0.0010	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	4.811e-05	0	0.0001	0.0043	0.0008	0	0	0.0002	0.0005	0.0010	0.002	0.72154	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.075	0.57047	M	-0.61	0.71779	T	-5.15	0.83357	D	0.742	0.74189	-0.0131	0.81983	T	0.479	0.80088	T	10	0.1428135	0.27121	T	0.292664	0.90617	D	0.525	0.79886	.	.	0.866923494761	0.86563	0.5059080629764829	0.50512	0.151484618401	0.17099	0.853851675987	0.90195	D	0.672501	0.90295	D	-0.133355	0.30954	T	-0.0249299	0.68704	D	0.155639581505526	0.17544	T	0.966303	0.87634	D	0.6552322	0.75643	0.5584526	0.74456	0.6552322	0.75645	0.5584526	0.74457	-13.61	0.91720	D	0.6325771152031752	0.70218	0.565	0.67424	P	.	.	4.851734	0.79312	27.1	0.99920121380343407	0.98721	0.92257	0.55297	D	AEFDBCI	0.705839	0.66109	D	0.526083407036831	0.68639	5.244721	0.486839522293622	0.67115	5.041284	0.999012517554487	0.38212	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.24	4.3	0.50540	3.981000	0.56611	5.681000	0.49295	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8563:0.1437	14.993	0.71063	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	845.98	40	chr15	89630403	.	G	A	845.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.617;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.84;ReadPosRankSum=0.968;SOR=0.701	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1101	20	0	1	0
chr15	89648269	89648269	C	T	exonic	KIF7	.	nonsynonymous SNV	KIF7:NM_198525:exon5:c.G1429A:p.A477T,	Acrocallosal syndrome, Autosomal recessive;Joubert syndrome 12, Autosomal recessive	.	8	1512	1	1	0	3	0.00099108	.	.	195060	Acrocallosal_syndrome|Multiple_epiphyseal_dysplasia,_Al-Gazali_type|Hydrolethalus_syndrome_2|not_specified|not_provided	MONDO:MONDO:0008708,MedGen:C0796147,OMIM:200990,Orphanet:36|MONDO:MONDO:0011778,MedGen:C1846722,OMIM:607131,Orphanet:166024|MONDO:MONDO:0013585,MedGen:C3279899,OMIM:614120,Orphanet:2189|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.0	B	0.203	U	1.000	N	-0.345	N	-0.55	T	-1.024	T	0.083	T	0.047	0.956	8.901	-6.82	-1.495	-0.014	2.060	0.118	.	.	0.00279553	0.0002	0.0059	0	0	0	0	0	0	0.0001294	20	154602	rs527804875	0.0003	0.0003	0.0003	0.0003	0.0113	0.0003	0.0003	0.0103	0.0100	0.0113	0.0005	0	0	0	0.0005	6.56e-06	0.0006	1.276e-05	0.0028	0.0028	0.0032	0.0023	0.0099	0.0026	0.0025	0.0091	0.0088	0.0099	0	0.0007	0	0	0	0	2.941e-05	0.0005	0	0.559	0.06401	T	0.57	0.08808	T	0.0	0.02946	B	0.0	0.01387	B	0.202867	0.16556	U	0.509246	1	0.08975	N	-0.755	0.01709	N	-0.55	0.71068	T	-1.19	0.30346	N	0.025	0.00485	-1.0242	0.22344	T	0.083	0.32614	T	10	0.003024429	0.00050	T	.	.	.	0.118	0.32913	.	.	0.0551355673512	0.04727	0.20072929745993545	0.19989	0.0178254394699	0.01746	0.567517876625	0.48327	T	0.109971	0.42429	T	-0.593427	0.00160	T	-0.615798	0.11518	T	0.00343643856898533	0.00036	T	0.287571	0.05177	T	0.03143527	0.02984	0.047239993	0.06762	0.03143527	0.02983	0.047239993	0.06762	-4.898	0.35713	T	0.13609706674692976	0.14853	0.063	0.01470	B	.	.	-0.030485	0.04076	0.952	0.91576409410832538	0.20856	0.00751	0.03122	N	AEFDBI	0.028504	0.02523	N	-1.768020141321	0.00628	0.02708967	-1.83670617464958	0.00648	0.02883882	0.99999819227737	0.74766	0.696267	0.57585	0	0.547309	0.14657	0	0.691665	0.62940	0	0.604944	0.38103	0	.	.	3.41	-6.82	0.01537	0.009000	0.13117	1.035000	0.23510	-0.210000	0.08370	0.000000	0.06391	0.119000	0.22882	0.011000	0.09372	0.417:0.3174:0.1282:0.1374	2.060	0.03372	843	0.36859	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	840.98	36	chr15	89648269	.	C	T	840.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=859;ExcessHet=0.0000;FS=0.895;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=-2.650e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr15	89648308	89648308	T	C	exonic	KIF7	.	nonsynonymous SNV	KIF7:NM_198525:exon5:c.A1390G:p.I464V,	Acrocallosal syndrome, Autosomal recessive;Joubert syndrome 12, Autosomal recessive	.	7	1506	9	0	0	9	0.00297915	.	.	341485	Acrocallosal_syndrome	MONDO:MONDO:0008708,MedGen:C0796147,OMIM:200990,Orphanet:36	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.3	T	0.043	B	0.021	B	0.000	U	0.998	D	2.005	M	-0.62	T	-0.783	T	0.264	T	0.155	2.998	16.00	3.26	0.541	5.409	9.551	0.139	0.153396277549	.	0.000399361	0.0015	0	0	0	0	0	0	0.0024	0.0001229	19	154602	rs570856269	0.0003	0.0003	0.0002	0.0004	0.0024	0.0003	0.0003	0.0021	0.0020	3.294e-05	0.0001	0	0	0	0.0023	0.0002	0.0004	0.0024	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	8.723e-05	0.0008	0.0006	4.813e-05	0	6.538e-05	0	0	0	0	0.0002	0	0.0017	0.313	0.13879	T	0.597	0.08025	T	0.043	0.21573	B	0.021	0.19346	B	0.000004	0.62929	U	0.000000	0.997687	0.44098	D	2.485	0.72352	M	-0.62	0.71895	T	-0.16	0.09460	N	0.203	0.22486	-0.7827	0.56149	T	0.264	0.63534	T	10	0.007978946	0.00181	T	0.153396	0.83467	D	0.139	0.37390	0.12	0.02719	0.682399439722	0.67969	0.24251828648780865	0.24165	0.0606905089599	0.06755	0.889000177383	0.95135	D	0.091074	0.38721	T	-0.383569	0.02957	T	-0.328985	0.41583	T	0.0542463964984042	0.06230	T	0.860314	0.55333	D	0.051097695	0.09334	0.05417529	0.09269	0.051097695	0.09334	0.05417529	0.09268	-1.877	0.02749	T	0.2586999643734568	0.34951	0.242	0.47578	B	.	.	2.701580	0.35291	19.86	0.9945232932422543	0.65325	0.97220	0.73400	D	AEFDBI	0.654661	0.62727	D	-0.243260025261783	0.31372	1.758486	-0.178331256621388	0.32335	1.838589	0.999997242732638	0.74766	0.696267	0.57585	0	0.547309	0.14657	0	0.691665	0.62940	0	0.604944	0.38103	0	.	.	4.39	3.26	0.36471	5.530000	0.66854	1.092000	0.23989	0.643000	0.52288	1.000000	0.71638	1.000000	0.68203	0.857000	0.40602	0.0:0.0853:0.0:0.9147	9.551	0.38475	843	0.36859	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	428.98	36	chr15	89648308	.	T	C	428.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.250e-01;DP=827;ExcessHet=0.0000;FS=3.997;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.53;ReadPosRankSum=1.13;SOR=0.279	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr15	89750582	89750582	C	T	exonic	MESP1	.	nonsynonymous SNV	MESP1:NM_018670:exon1:c.G650A:p.R217H,	.	.	.	.	.	.	.	.	.	.	.	1632067	not_provided|MESP1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.6	T	0.024	B	0.001	B	.	.	1.000	N	0	N	-1.19	T	-1.077	T	0.034	T	0.101	1.886	12.27	0.54	-0.068	-2.016	3.644	0.067	.	.	0.00878594	0.0033	0.0714	0	0	0	0	0	0	0.0011125	172	154602	rs144221449	0.0006	0.0007	0.0007	0.0006	0.0262	0.0006	0.0006	0.0246	0.0239	0.0262	0.0017	0	0	0	0.0007	6.819e-06	0.0014	6.627e-05	0.0075	0.0075	0.0082	0.0067	0.0261	0.0071	0.0070	0.0248	0.0243	0.0261	0	0.0027	0	0	0	0	4.411e-05	0.0052	0.0002	0.145	0.25154	T	0.616	0.07543	T	0.024	0.19075	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	-1.19	0.78427	T	0.46	0.03140	N	0.077	0.05162	-1.0774	0.07861	T	0.034	0.14421	T	9	0.00254637	0.00039	T	.	.	.	0.067	0.19503	.	.	0.191931220699	0.18833	0.10593136907520866	0.10523	0.551235762849	0.51968	0.661490440369	0.61623	T	0.093455	0.39215	T	-0.554386	0.00274	T	-0.547483	0.17567	T	0.0038373784091033	0.00041	T	0.508249	0.16142	T	0.025223192	0.01436	0.043048576	0.05269	0.025223192	0.01436	0.043048576	0.05269	-5.771	0.44321	T	.	.	0.108	0.20313	B	.	.	0.410290	0.07812	4.504	0.98309925362738926	0.40135	0.02554	0.07084	N	AEFDGBCI	0.131376	0.25029	N	-1.27836638739179	0.03937	0.1767858	-1.29010027339585	0.04563	0.2155344	0.999997763816409	0.74766	0.455138	0.09556	0	0.56911	0.20461	1	0.503968	0.08637	0	0.56751	0.32155	0	.	.	3.58	0.54	0.16354	-2.084000	0.01451	-0.323000	0.09949	-0.238000	0.07553	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.5463:0.2085:0.2452	3.644	0.07715	609	0.67094	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	132.98	33	chr15	89750582	.	C	T	132.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.984;DP=901;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.54;ReadPosRankSum=-6.360e-01;SOR=0.818	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr15	89750804	89750804	C	G	exonic	MESP1	.	nonsynonymous SNV	MESP1:NM_018670:exon1:c.G428C:p.S143T,	.	.	2	1512	8	0	0	8	0.00263852	.	.	2215159	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.982	D	0.715	P	0.002	U	0.989	D	2.085	M	-2.34	D	0.148	D	0.619	D	0.066	2.769	15.22	3.04	1.711	1.599	7.409	0.361	0.917779478836	.	.	0.0001	0	0.0002	0	0	0.0001	0	0.0002	3.88e-05	6	154602	rs774948264	3.129e-05	3.147e-05	2.164e-05	4.112e-05	0.0009	2.358e-05	2.095e-05	0.0004	0.0002	6.995e-05	2.819e-05	0	0	0	0.0009	1.395e-05	0.0001	0.0002	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.048	0.40068	D	0.135	0.34124	T	0.982	0.60036	D	0.715	0.54683	P	0.001964	0.37549	U	0.000000	0.989031	0.40874	D	2.25	0.63811	M	-2.34	0.87989	D	-2.16	0.48850	N	0.208	0.23125	0.148	0.85018	D	0.619	0.86564	D	10	0.34192705	0.51234	T	0.917779	0.99392	D	0.361	0.68141	0.299	0.26522	0.643574497599	0.64062	0.3003245447234037	0.29945	1.21140750543	0.80846	0.873099029064	0.93008	D	0.266031	0.63794	T	-0.293922	0.09245	T	-0.375261	0.36275	T	0.484813511371613	0.32074	T	0.754325	0.37688	T	0.18588448	0.39971	0.3103691	0.57048	0.18588448	0.39970	0.3103691	0.57047	-7.115	0.54868	T	.	.	0.177	0.38658	B	.	.	3.702285	0.52811	23.3	0.98726296014014636	0.45274	0.94709	0.62060	D	ALL	0.454446	0.50715	N	0.157678953827229	0.49176	3.120946	0.0473142027856109	0.41941	2.528388	0.999999999999997	0.74766	0.437478	0.07067	0	0.218748	0.04544	0	0.606814	0.37721	0	0.618803	0.45993	0	.	.	3.04	3.04	0.34171	-0.259000	0.08742	4.075000	0.41695	0.452000	0.21348	0.000000	0.06391	1.000000	0.68203	0.550000	0.30174	0.0:0.8726:0.0:0.1274	7.409	0.26180	610	0.67008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1573.98	35	chr15	89750804	.	C	G	1573.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.208e+00;DP=1004;ExcessHet=0.0000;FS=3.385;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.01;ReadPosRankSum=1.98;SOR=1.052	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1140	20	0	1	0
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	.	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	31349.59	49	chr15	89776903	.	AGGGCAGGGGCAG	*,A	31349.59	.	AC=14,28;AF=0.333,0.667;AN=42;BaseQRankSum=0.794;DP=1383;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=14,28;MLEAF=0.333,0.667;MQ=60.00;MQRankSum=0.00;QD=27.92;ReadPosRankSum=0.595;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,63:63:99:1|1:89776888_G_A:2722,2722,2722,190,190,0:89776888	0	0	0	0
chr15	89803683	89803683	C	G	exonic	ANPEP	.	nonsynonymous SNV	ANPEP:NM_001381924:exon7:c.G1401C:p.Q467H	.	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.986	D	0.000	D	0.997	D	2.635	M	4.04	T	-1.152	T	0.047	T	0.345	2.504	14.33	4.58	2.093	1.803	14.853	0.238	0.0388813148285	0.0002	.	0.0007	9.621e-05	0	0	0	9.022e-05	0	0.0048	0.0005757	89	154602	rs148567888	0.0003	0.0003	0.0002	0.0004	0.0049	0.0003	0.0003	0.0037	0.0035	5.975e-05	4.479e-05	0	0	0	0.0049	3.059e-05	0.0004	0.0040	9.847e-05	9.841e-05	5.139e-05	0.0001	0.0017	6.001e-05	4.875e-05	0.0008	0.0006	0	0	0	0	0.0002	0	0.0034	7.351e-05	0	0.0017	0.003	0.68238	D	0.007	0.69154	D	0.999	0.77913	D	0.986	0.76916	D	0.000001	0.62929	D	0.058208	0.997352	0.43821	D	2.285	0.65182	M	4.04	0.03121	T	-3.74	0.71042	D	0.558	0.58287	-1.1521	0.00963	T	0.047	0.20156	T	10	0.030548751	0.01182	T	0.038881	0.58482	D	0.238	0.54217	0.722	0.85673	0.668779650676	0.66598	0.5962080685427351	0.59550	0.515275590241	0.49436	0.525485098362	0.42399	T	0.316855	0.68835	T	-0.450992	0.01115	T	-0.420054	0.31070	T	0.153436396995055	0.17374	T	0.909909	0.68110	D	0.85339373	0.87587	0.7185164	0.83383	0.85339373	0.87589	0.7185164	0.83384	-11.234	0.80925	D	.	.	0.751	0.75084	P	.	.	3.927271	0.57374	23.8	0.99329090538237697	0.59700	0.87594	0.47185	D	AEFDBCI	0.729194	0.67698	D	0.444055843295137	0.63867	4.628875	0.328695120608168	0.57233	3.888242	0.999999954105724	0.74766	0.722319	0.85440	0	0.573888	0.26702	0	0.645312	0.48771	0	0.735409	0.98432	0	.	.	4.58	4.58	0.56077	1.832000	0.38791	3.295000	0.37336	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.588000	0.31090	0.0:1.0:0.0:0.0	14.853	0.69946	451	0.79296	Peptidase M1, membrane alanine aminopeptidase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1694.98	38	chr15	89803683	.	C	G	1694.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.500;DP=1103;ExcessHet=0.0000;FS=1.222;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.27;ReadPosRankSum=0.292;SOR=0.798	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr15	89803917	89803917	G	C	exonic	ANPEP	.	nonsynonymous SNV	ANPEP:NM_001381924:exon6:c.C1265G:p.A422G	.	.	427	1083	12	0	0	12	0.00550964	.	.	726340	not_provided|ANPEP-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.996	D	0.969	D	0.000	D	0.999	D	2.615	M	4.15	T	-1.191	T	0.034	T	0.499	3.953	20.2	3.65	0.915	4.122	10.405	0.206	0.0259706140442	0.0015	0.00179712	0.0020	0.0005	0.0019	0	0.0021	0.0022	0.0022	0.0033	0.0019146	296	154602	rs144282919	0.0020	0.0020	0.0019	0.0021	0.0034	0.0019	0.0019	0.0031	0.0030	0.0003	0.0021	0.0003	2.519e-05	0.0026	0.0031	0.0020	0.0017	0.0034	0.0018	0.0018	0.0017	0.0018	0.0041	0.0016	0.0015	0.0027	0.0023	0.0007	0	0.0020	0	0	0.0019	0.0068	0.0024	0.0028	0.0041	0.016	0.51853	D	0.003	0.76473	D	0.996	0.68779	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	0.998813	0.45492	D	2.31	0.66127	M	4.15	0.02815	T	-3.41	0.67129	D	0.708	0.71143	-1.1912	0.00229	T	0.034	0.14596	T	10	0.027962267	0.00934	T	0.025971	0.48910	D	0.206	0.49396	.	.	0.5353919603	0.53189	0.5511601366670511	0.55042	0.826528018319	0.67431	0.403196841478	0.25514	T	0.298852	0.67140	T	-0.409085	0.02016	T	-0.362504	0.37763	T	0.0143330079449275	0.00286	T	0.865813	0.56549	D	0.8962787	0.91052	0.71628726	0.83254	0.8962787	0.91054	0.71628726	0.83255	-10.542	0.77088	D	.	.	0.223	0.45384	B	.	.	4.560386	0.71854	25.7	0.99685103855634227	0.79507	0.96040	0.67261	D	AEFDBCI	0.799146	0.72549	D	0.50535029227732	0.67405	5.077351	0.415320321123462	0.62519	4.468608	0.99999990718495	0.74766	0.722319	0.85440	0	0.573888	0.26702	0	0.645312	0.48771	0	0.735409	0.98432	0	.	.	4.58	3.65	0.40985	4.272000	0.58705	5.077000	0.47232	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0982:0.0:0.9018:0.0	10.405	0.43434	451	0.79296	Peptidase M1, membrane alanine aminopeptidase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3455.11	38	chr15	89803917	.	G	C	3455.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-9.980e-01;DP=982;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.99;ReadPosRankSum=-3.230e-01;SOR=0.679	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	19	0	2	0
chr15	89805203	89805203	G	T	exonic	ANPEP	.	nonsynonymous SNV	ANPEP:NM_001381924:exon3:c.C772A:p.L258I	.	.	414	1096	12	0	0	12	0.00544465	.	.	726341	not_provided|ANPEP-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.47	T	0.005	B	0.016	B	0.000	N	1.000	N	0.295	N	4.24	T	-0.936	T	0.006	T	0.134	0.545	6.950	-3.78	-0.501	-2.741	2.453	0.021	0.00366820839329	0.0015	0.00159744	0.0019	0.0005	0.0017	0	0.0021	0.0021	0.0022	0.0031	0.0018305	283	154602	rs146926671	0.0019	0.0019	0.0018	0.0021	0.0034	0.0019	0.0019	0.0031	0.0030	0.0003	0.0017	0.0003	2.519e-05	0.0026	0.0031	0.0020	0.0017	0.0034	0.0018	0.0018	0.0017	0.0018	0.0048	0.0016	0.0015	0.0033	0.0028	0.0007	0	0.0016	0	0	0.0019	0.0068	0.0024	0.0028	0.0048	0.436	0.09374	T	0.497	0.11299	T	0.005	0.12996	B	0.016	0.17743	B	0.000000	0.00162	N	15.991200	1	0.08975	N	0.475	0.13142	N	4.24	0.02590	T	-0.02	0.07299	N	0.214	0.23884	-0.9357	0.43288	T	0.006	0.01944	T	10	0.0043984354	0.00089	T	0.003668	0.08464	T	0.021	0.04004	.	.	0.252681307341	0.24864	0.42566844532429726	0.42483	0.274924138337	0.29976	0.269383579493	0.06060	T	0.127907	0.45523	T	-0.66847	0.00056	T	-0.735093	0.04100	T	0.00379468395581677	0.00040	T	0.669833	0.27843	T	0.16779764	0.37198	0.03854443	0.03748	0.16779764	0.37198	0.03854443	0.03747	-3.983	0.23548	T	.	.	0.09	0.12607	B	.	.	-2.217674	0.00061	0.001	0.80936852884495825	0.13440	0.13072	0.17647	N	AEFGBCI	0.211760	0.33752	N	-1.34560822965062	0.03171	0.1411956	-1.40565723452777	0.03195	0.1485408	0.999439436612652	0.39683	0.67177	0.52595	0	0.573888	0.26702	0	0.645312	0.48771	0	0.711	0.71501	0	.	.	4.42	-3.78	0.04049	-3.933000	0.00373	-13.273000	0.00469	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.41:0.1158:0.3576:0.1166	2.453	0.04248	448	0.79501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3360.11	33	chr15	89805203	.	G	T	3360.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.546e+00;DP=943;ExcessHet=0.1072;FS=0.944;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=2.00;SOR=0.614	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1299	19	0	2	0
chr15	89805989	89805989	T	G	exonic	ANPEP	.	nonsynonymous SNV	ANPEP:NM_001381924:exon1:c.A595C:p.M199L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.024	B	0.027	B	0.333	N	1.000	N	1.125	L	4.31	T	-0.921	T	0.009	T	0.103	0.637	7.421	1.22	0.663	-0.482	4.237	0.040	0.00416045465606	.	.	0.0002	0.0002	0.0006	0.0003	0	7.724e-05	0.0012	0.0003	0.0001358	21	154602	rs763429233	7.546e-05	7.456e-05	6.449e-05	8.664e-05	0.0014	6.391e-05	5.944e-05	0.0007	0.0005	0.0003	0.0003	0	0.0004	0	0.0014	2.364e-05	0.0002	0.0003	5.914e-05	5.91e-05	7.707e-05	4.036e-05	0.0004	3.078e-05	2.21e-05	7.279e-05	3.025e-05	2.414e-05	0	0.0001	0	0.0002	0	0	4.411e-05	0	0.0004	0.542	0.06757	T	0.482	0.11829	T	0.024	0.19075	B	0.027	0.21085	B	0.332553	0.04139	N	1.329750	0.999994	0.08975	N	0.925	0.23481	L	4.31	0.02412	T	-0.95	0.25332	N	0.224	0.25130	-0.9207	0.45458	T	0.009	0.03359	T	10	0.025929272	0.00773	T	0.00416	0.09995	T	0.040	0.10527	0.532	0.64002	0.241078983079	0.23725	0.5070787799293122	0.50629	0.24251338115	0.26756	0.233498036861	0.02237	T	0.164836	0.51044	T	-0.555363	0.00271	T	-0.715507	0.05015	T	0.00435399186391345	0.00046	T	0.710329	0.32115	T	0.33304495	0.55718	0.14648868	0.34703	0.33304495	0.55718	0.14648868	0.34702	-2.86	0.08749	T	.	.	0.082	0.08657	B	.	.	0.831144	0.12026	8.582	0.72552291913392308	0.10013	0.23769	0.22182	N	AEFDGBHCI	0.378332	0.46177	N	-0.856138036722248	0.11900	0.5768946	-0.785800287709387	0.14843	0.7776744	0.999990190296618	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.645312	0.48771	0	0.711	0.71501	0	.	.	4.8	1.22	0.20300	-0.255000	0.08789	-0.350000	0.09751	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.507000	0.29175	0.163:0.154:0.0:0.6831	4.237	0.10081	448	0.79501	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2807.98	33	chr15	89805989	.	T	G	2807.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=924;ExcessHet=0.0000;FS=3.979;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=-8.800e-01;SOR=1.000	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	20	0	1	0
chr15	90228609	90228609	G	A	exonic	SEMA4B	.	nonsynonymous SNV	SEMA4B:NM_001324029:exon13:c.G2066A:p.R689H	.	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.002	N	1.000	D	1.04	L	1.44	T	-0.910	T	0.137	T	0.526	4.147	21.4	4.57	2.522	8.796	16.856	0.358	0.0804962751256	.	0.000199681	0.0001	0.0001	0	0	0	0.0002	0	0	9.7e-05	15	154602	rs577641207	4.107e-05	4.104e-05	4.494e-05	3.715e-05	0.0002	3.246e-05	2.921e-05	3.257e-05	2.919e-05	2.987e-05	0	0	0	0	0.0002	4.227e-05	9.94e-05	5.797e-05	1.313e-05	1.312e-05	2.569e-05	0	4.81e-05	2.18e-06	8.2e-07	7.97e-06	2.98e-06	4.81e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.001638	0.38439	N	0.248175	1	0.81001	D	.	.	.	1.44	0.32722	T	-0.99	0.26200	N	0.672	0.68516	-0.9100	0.46854	T	0.137	0.45260	T	10	0.42446452	0.57081	T	0.080496	0.73474	D	0.358	0.67872	.	.	0.385578977469	0.38175	0.44629258000413297	0.44547	0.947910528144	0.72488	0.81492972374	0.84248	D	0.087751	0.38010	T	-0.163271	0.26257	T	-0.235636	0.51223	T	0.386403769254684	0.28427	T	0.956904	0.83579	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.55713	B	.;.	.;.	5.531198	0.91875	32	0.99952405620517437	0.99951	0.97011	0.72175	D	AEFDBCI	.	.	.	0.610533188259147	0.73841	6.032318	0.581333374163708	0.73601	5.997436	0.999999999996112	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	4.57	4.57	0.55860	8.924000	0.92376	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.0:0.0:1.0:0.0	16.856	0.85872	576	0.70006	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	742.98	36	chr15	90228609	.	G	A	742.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.640e-01;DP=834;ExcessHet=0.0000;FS=0.985;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=-1.473e+00;SOR=0.941	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr15	90241611	90241611	A	T	exonic	GDPGP1	.	nonsynonymous SNV	GDPGP1:NM_001013657:exon4:c.A703T:p.S235C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.964	D	0.000	D	1.000	N	1.63	L	1.94	T	-1.008	T	0.100	T	0.496	2.736	15.11	5.95	2.279	3.549	10.403	0.138	0.0134965395382	7.7e-05	.	4.128e-05	0	8.648e-05	0	0	6.011e-05	0	0	3.23e-05	5	154602	rs147678028	4.105e-05	4.104e-05	4.221e-05	3.988e-05	0.0001	3.245e-05	2.92e-05	4.358e-05	2.767e-05	0	0.0001	0.0007	0	0	0	3.147e-05	1.656e-05	0	3.284e-05	3.283e-05	2.569e-05	4.034e-05	6.54e-05	1.261e-05	7.98e-06	.	.	0	0	6.54e-05	0.0009	0	0	0	0	0.0005	0	0.049	0.39820	D	0.076	0.42614	T	1.0	0.90584	D	0.964	0.71005	D	0.000117	0.50451	D	0.179711	0.99998	0.18612	N	1.935	0.51832	L	1.94	0.22678	T	-1.64	0.39314	N	0.269	0.39356	-1.0081	0.27510	T	0.100	0.37085	T	10	0.14982083	0.28348	T	0.013497	0.32951	T	0.138	0.37187	.	.	0.49590494691	0.49224	0.7105283111398882	0.70994	0.537173882825	0.51028	0.409538120031	0.26393	T	0.004431	0.03837	T	-0.235282	0.15957	T	-0.399896	0.33397	T	0.214057465870237	0.21163	T	0.741226	0.36032	T	0.09761202	0.23013	0.08697518	0.20187	0.09761202	0.23012	0.08697518	0.20186	-3.085	0.11125	T	.	.	0.125	0.26482	B	.;.	.;.	2.999672	0.40076	21.1	0.96619056349027754	0.30473	0.90016	0.50870	D	AEFBHCI	0.250811	0.37080	N	0.408023420422923	0.61862	4.393235	0.344971347273759	0.58206	3.989736	1.0	0.98316	0.554377	0.28877	0	0.588066	0.40923	0	0.612816	0.40813	0	0.567892	0.33627	0	.	.	5.95	5.95	0.96415	3.558000	0.53494	11.107000	0.86243	0.756000	0.94297	0.983000	0.35670	1.000000	0.68203	0.020000	0.11549	0.9238:0.0:0.0762:0.0	10.403	0.43428	662	0.61715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2127.98	36	chr15	90241611	.	A	T	2127.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.745e+00;DP=1111;ExcessHet=0.0000;FS=0.748;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.67;ReadPosRankSum=0.136;SOR=0.582	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr15	90360750	90360750	A	G	exonic	ZNF774	.	nonsynonymous SNV	ZNF774:NM_001004309:exon4:c.A919G:p.I307V,	.	.	418	1091	13	0	0	13	0.00592255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.0	B	0.002	B	0.681	N	1.000	N	0.435	N	2.02	T	-0.961	T	0.016	T	0.042	1.148	9.677	-5.16	-0.480	1.155	7.812	0.027	0.00367150201203	0.0035	0.00179712	0.0041	0.0013	0.0017	0	0.0035	0.0052	0.0078	0.0052	0.0038421	594	154602	rs150500921	0.0047	0.0047	0.0045	0.0048	0.0059	0.0046	0.0045	0.0048	0.0047	0.0008	0.0017	0.0107	5.038e-05	0.0043	0.0059	0.0049	0.0050	0.0051	0.0032	0.0032	0.0035	0.0028	0.0049	0.0029	0.0029	0.0045	0.0043	0.0013	0	0.0016	0.0078	0	0.0026	0	0.0049	0.0033	0.0017	0.171	0.22746	T	0.385	0.15746	T	0.0	0.02946	B	0.002	0.06944	B	0.680832	0.10260	N	0.778107	1	0.08975	N	-1.03	0.01126	N	2.02	0.21119	T	-0.29	0.11728	N	0.014	0.00160	-0.9614	0.38916	T	0.016	0.06711	T	10	0.0029374063	0.00047	T	0.003672	0.08464	T	0.027	0.05988	.	.	0.186928172975	0.18263	0.020037791574456967	0.01956	0.0372404759166	0.03946	0.315446823835	0.12731	T	0.002856	0.02248	T	-0.682725	0.00046	T	-0.750435	0.03468	T	0.00263947290263791	0.00028	T	0.362364	0.08382	T	0.03160436	0.03031	0.034833886	0.02622	0.03160436	0.03031	0.034833886	0.02621	-4.155	0.26097	T	.	.	0.174	0.38117	B	.	.	1.261285	0.16590	12.64	0.77924712142657915	0.12081	0.18813	0.20413	N	AEFDBCI	0.099355	0.20002	N	-1.13139518893426	0.06091	0.2794934	-1.1449639417494	0.06859	0.3315951	0.197770893749221	0.18083	0.651	0.46895	0	0.601575	0.49859	0	0.608075	0.38828	0	0.683762	0.67416	0	.	.	5.64	-5.16	0.02640	1.008000	0.29475	-0.611000	0.08222	0.731000	0.85647	0.000000	0.06391	0.000000	0.08366	0.917000	0.45243	0.1853:0.395:0.4197:0.0	7.812	0.28399	889	0.27310	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1989.98	40	chr15	90360750	.	A	G	1989.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.570e-01;DP=931;ExcessHet=0.0000;FS=0.625;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.32;ReadPosRankSum=0.823;SOR=0.636	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	20	0	1	0
chr15	90441622	90441622	T	G	exonic	IQGAP1	.	nonsynonymous SNV	IQGAP1:NM_003870:exon8:c.T766G:p.S256A,	.	.	428	1081	13	0	0	13	0.00597701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.94	T	0.0	B	0.002	B	0.009	N	1.000	D	0.375	N	1.11	T	-1.067	T	0.032	T	0.099	-0.127	3.376	3.82	0.912	1.112	4.764	0.061	.	0.0086	0.00219649	0.0074	0.0019	0.0018	0	0.0051	0.0115	0.0077	0.0033	0.0075031	1160	154602	rs12324924	0.0099	0.0099	0.0101	0.0097	0.0117	0.0098	0.0097	0.0115	0.0114	0.0016	0.0032	0.0041	0	0.0059	0.0021	0.0117	0.0097	0.0033	0.0071	0.0071	0.0074	0.0067	0.0111	0.0067	0.0066	0.0104	0.0102	0.0021	0	0.0090	0.0052	0	0.0047	0	0.0111	0.0066	0.0027	0.904	0.02401	T	0.66	0.06511	T	0.0	0.02946	B	0.002	0.06944	B	0.008998	0.30568	N	0.358231	1	0.81001	D	1.01	0.25309	L	1.11	0.38883	T	-0.77	0.21429	N	0.275	0.31140	-1.0667	0.10154	T	0.032	0.13723	T	10	0.0030476153	0.00050	T	.	.	.	0.061	0.17616	.	.	0.340919117937	0.33698	0.1474818988703152	0.14670	0.100179550336	0.11320	0.388379395008	0.23441	T	0.178363	0.52899	T	-0.576984	0.00201	T	-0.592179	0.13478	T	0.00353934327912724	0.00037	T	0.154585	0.01346	T	0.03965655	0.05518	0.02898071	0.01188	0.03965655	0.05517	0.02898071	0.01187	-2.672	0.07071	T	.	.	0.056	0.00496	B	.	.	2.006997	0.25502	16.79	0.57376902574710298	0.05756	0.38396	0.25979	N	AEFBI	0.095431	0.19282	N	-0.671627635209906	0.16833	0.8611086	-0.502619960178538	0.22082	1.197639	0.429567819686278	0.20359	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	4.93	3.82	0.43153	0.861000	0.27540	0.284000	0.16799	0.665000	0.62972	0.025000	0.20085	0.068000	0.22166	0.996000	0.76049	0.166:0.0895:0.0:0.7445	4.764	0.12494	837	0.37933	.	.	.	.	.	rs12324924	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1428.98	114	chr15	90441622	.	T	G	1428.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.330e-01;DP=840;ExcessHet=0.0000;FS=0.702;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.53;ReadPosRankSum=1.75;SOR=0.804	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,108,1620	20	0	1	0
chr15	90486117	90486117	A	T	exonic	IQGAP1	.	nonsynonymous SNV	IQGAP1:NM_003870:exon31:c.A4009T:p.I1337F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.013	B	0.004	B	0.000	D	1.000	D	2.045	M	0.8	T	-0.958	T	0.144	T	0.473	2.825	15.41	5.46	2.199	4.912	14.655	0.107	0.0100788336757	.	.	1.787e-05	0	0	0	0	1.619e-05	0	6.769e-05	1.29e-05	2	154602	rs753502137	1.711e-05	1.71e-05	6.81e-06	2.752e-05	0.0002	1.175e-05	9.93e-06	0.0001	0.0001	0	0	0	0	0	0	4.499e-06	1.657e-05	0.0002	1.971e-05	1.97e-05	0	4.036e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	0	0	0.0006	0.002	0.72154	D	0.102	0.38742	T	0.013	0.16609	B	0.004	0.10090	B	0.000004	0.62929	D	0.063210	1	0.81001	D	2.05	0.56469	M	0.8	0.48769	T	-3.4	0.67014	D	0.633	0.64648	-0.9579	0.39571	T	0.144	0.46714	T	10	0.19490442	0.35321	T	0.010079	0.26191	T	0.107	0.30369	0.27	0.21893	0.496871534903	0.49321	0.6231617562508722	0.62249	0.416704924189	0.42310	0.54656213522	0.45372	T	0.660897	0.89822	D	-0.218713	0.18167	T	-0.292263	0.45538	T	0.57023811340332	0.35244	D	0.964104	0.86689	D	0.70841676	0.78521	0.62501335	0.78144	0.70841676	0.78522	0.62501335	0.78145	-9.034	0.67916	D	.	.	0.249	0.59722	B	.;.	.;.	4.323994	0.66207	24.9	0.96180866759185324	0.28960	0.94124	0.60185	D	AEFBI	0.591105	0.58733	D	0.0597406616166538	0.44592	2.73041	0.220629220630212	0.50992	3.285826	0.961580495923667	0.28564	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.46	5.46	0.80021	4.903000	0.62964	9.234000	0.79377	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.655	0.68434	912	0.21483	Ras GTPase-activating domain;Ras GTPase-activating domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2085.98	34	chr15	90486117	.	A	T	2085.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.10;DP=811;ExcessHet=0.0000;FS=1.456;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.43;ReadPosRankSum=-5.990e-01;SOR=0.570	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1424	20	0	1	0
chr15	90625899	90625899	C	G	exonic	CRTC3	.	nonsynonymous SNV	CRTC3:NM_001042574:exon10:c.C873G:p.D291E	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.999	D	0.000	D	1.000	D	1.975	M	-0.16	T	-0.585	T	0.310	T	0.267	2.705	15.01	0.973	0.300	0.136	4.342	0.186	0.0179829276429	.	.	0.0001	0	8.637e-05	0	0	0.0002	0	0	0.0001294	20	154602	rs575632375	8.277e-05	8.277e-05	7.759e-05	8.8e-05	0.0016	7.069e-05	6.618e-05	0.0008	0.0006	0	4.472e-05	0	0	0	0.0016	9.442e-05	8.279e-05	0	5.252e-05	5.249e-05	5.139e-05	5.369e-05	0.0001	2.555e-05	1.829e-05	4.765e-05	3.339e-05	0	0	6.535e-05	0	0	0	0	0.0001	0	0	0.031	0.45039	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.098878	0.981278	0.39758	D	2.86	0.83026	M	-0.16	0.65378	T	-3.48	0.67941	D	0.185	0.20129	-0.5849	0.65423	T	0.310	0.68066	T	10	0.22447652	0.39252	T	0.017983	0.39885	T	0.186	0.46104	0.417	0.45709	0.444231683744	0.44045	0.5450481384412009	0.54430	0.0893282996329	0.10092	0.438406467438	0.30359	T	0.515034	0.82930	D	-0.278435	0.10833	T	-0.353015	0.38859	T	0.321841597557068	0.25897	T	0.518548	0.16835	T	0.23225792	0.46010	0.16735324	0.38614	0.23225792	0.46010	0.16735324	0.38613	-5.198	0.38942	T	.	.	0.137	0.30423	B	.;.	.;.	1.669478	0.21287	15.13	0.99560808489282659	0.71769	0.31577	0.24372	N	AEFGBI	0.097733	0.19706	N	-0.0265874734191181	0.40653	2.418013	-0.220168730245498	0.30814	1.738233	0.999940826667766	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.616094	0.41390	0	0.714379	0.83352	0	.	.	5.37	0.973	0.18829	0.041000	0.13813	-0.757000	0.07552	-0.174000	0.10959	0.177000	0.24026	0.000000	0.08366	0.042000	0.14466	0.0:0.4632:0.1606:0.3762	4.342	0.10555	840	0.37365	.;Transducer of regulated CREB activity, middle domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1942.98	35	chr15	90625899	.	C	G	1942.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.933e+00;DP=863;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.49;ReadPosRankSum=0.454;SOR=0.742	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr15	90763025	90763025	A	C	exonic	BLM	.	nonsynonymous SNV	BLM:NM_000057:exon8:c.A1942C:p.S648R	Bloom syndrome, Autosomal recessive	.	14	1507	1	0	0	1	0.000331675	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.004	B	0.012	B	0.143	N	1.000	N	0	N	-1.05	T	-0.882	T	0.193	T	0.165	1.886	12.26	0.458	0.071	0.585	8.265	0.149	0.0434530108229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.045	0.59159	D	0.004	0.12183	B	0.011	0.15521	B	0.142602	0.18238	N	0.593310	1	0.08975	N	0.895	0.22405	L	-1.05	0.76690	T	-1.79	0.44094	N	0.217	0.28849	-0.8819	0.49609	T	0.193	0.54667	T	10	0.079235494	0.12724	T	0.043453	0.60992	D	0.149	0.39377	0.35	0.34760	0.754946080411	0.75272	0.5170559907952202	0.51628	0.127171833989	0.14329	0.302459657192	0.10768	T	0.107318	0.41941	T	-0.0878466	0.38431	T	-0.363962	0.37592	T	0.0998861246287021	0.12344	T	0.668933	0.28201	T	0.19490167	0.41257	0.11864194	0.28638	0.19490167	0.41257	0.11864194	0.28637	-5.85	0.45008	T	0.17385951493280122	0.22048	0.170	0.52744	B	.;.	.;.	1.579597	0.20215	14.64	0.99025358921189988	0.50677	0.30821	0.24181	N	AEFBI	0.151994	0.27658	N	-0.867230118361258	0.11628	0.5622107	-0.812721066826479	0.14187	0.7400236	0.999400669108237	0.39524	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.45	0.458	0.15882	0.612000	0.23979	1.883000	0.29465	0.691000	0.84096	0.000000	0.06391	0.758000	0.26602	0.995000	0.73285	0.6012:0.0:0.3988:0.0	8.265	0.30968	649	0.63102	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	587.98	34	chr15	90763025	.	A	C	587.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.790e-01;DP=762;ExcessHet=0.0000;FS=0.886;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.05;ReadPosRankSum=0.875;SOR=0.818	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1082	20	0	1	0
chr15	90765340	90765340	C	T	exonic	BLM	.	nonsynonymous SNV	BLM:NM_000057:exon9:c.C2119T:p.P707S	Bloom syndrome, Autosomal recessive	.	0	1500	22	0	0	22	0.00727995	.	.	132939	BLM-related_disorder|not_provided|not_specified|Bloom_syndrome|Hereditary_cancer-predisposing_syndrome	.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0008876,MedGen:C0005859,OMIM:210900,Orphanet:125|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.18	T	0.018	B	0.047	B	0.000	D	1.000	D	0.115	N	-0.97	T	-0.805	T	0.226	T	0.533	2.661	14.86	5.6	2.644	1.569	17.123	0.284	0.0184591890883	0.0016	0.000998403	0.0016	0.0004	0.0016	0	0.0003	0.0022	0.0022	0.0012	0.00174	269	154602	rs146077918	0.0020	0.0020	0.0020	0.0021	0.0023	0.0020	0.0019	0.0022	0.0022	0.0004	0.0018	0.0009	2.52e-05	0.0004	0.0021	0.0023	0.0019	0.0016	0.0017	0.0017	0.0018	0.0016	0.0029	0.0015	0.0014	0.0023	0.0022	0.0003	0.0044	0.0029	0.0012	0	0.0003	0	0.0026	0.0019	0.0010	0.095	0.31235	T	0.323	0.27679	T	0.018	0.17786	B	0.047	0.24832	B	0.000065	0.52346	D	0.168793	0.999987	0.54805	D	0.98	0.24916	L	-0.97	0.75670	T	-4.41	0.79659	D	0.153	0.19459	-0.8053	0.54831	T	0.226	0.59007	T	10	0.014493585	0.00305	T	0.018459	0.40531	T	0.284	0.60219	.	.	0.864008763442	0.86269	0.5265579632617995	0.52579	0.102639998988	0.11614	0.454432964325	0.32550	T	0.228798	0.59444	T	-0.294338	0.09205	T	-0.194619	0.55155	T	0.0430593173252616	0.04249	T	0.950905	0.81262	D	0.32163432	0.54777	0.41443408	0.65587	0.42169252	0.62205	0.435562	0.67038	-6.941	0.53602	T	0.14693495229786818	0.16988	0.082	0.18622	B	.;.	.;.	2.618897	0.34026	19.51	0.99203767697127287	0.55351	0.93001	0.57076	D	AEFBI	0.468795	0.51545	N	-0.160683240991684	0.34782	1.989516	0.0668568496794711	0.42895	2.602599	0.999999981836099	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.6	5.6	0.84997	1.661000	0.37024	3.975000	0.40857	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.961000	0.51904	0.0:1.0:0.0:0.0	17.123	0.86585	636	0.64483	DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	915.98	36	chr15	90765340	.	C	T	915.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.540e-01;DP=755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.54;ReadPosRankSum=-6.230e-01;SOR=0.593	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1037	20	0	1	0
chr15	90876318	90876318	C	T	exonic	FURIN	.	nonsynonymous SNV	FURIN:NM_001289823:exon3:c.C241T:p.R81C	.	.	364	1140	17	1	0	19	0.00826446	.	.	2814491	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.989	D	0.586	P	0.051	N	1.000	D	2.785	M	1.45	T	-0.937	T	0.094	T	0.383	3.104	16.37	3.67	1.170	1.792	11.108	0.144	.	0.0023	0.00199681	0.0027	0.0002	0.0043	0	0	0.0040	0.0022	0.0005	0.0025226	390	154602	rs148110342	0.0019	0.0019	0.0018	0.0020	0.0187	0.0018	0.0018	0.0159	0.0148	0.0006	0.0041	0.0440	0.0003	1.883e-05	0.0187	0.0009	0.0046	0.0005	0.0023	0.0023	0.0022	0.0023	0.0059	0.0021	0.0020	0.0050	0.0046	0.0004	0	0.0059	0.0409	0.0002	0	0	0.0011	0.0076	0.0006	0.07	0.46513	T	0.174	0.70582	T	0.989	0.62824	D	0.586	0.50343	P	0.050699	0.23048	N	0.447962	0.999957	0.52396	D	2.535	0.73915	M	1.45	0.32482	T	-2.77	0.85921	D	0.398	0.43899	-0.9372	0.43057	T	0.094	0.35604	T	10	0.00404045	0.00079	T	.	.	.	0.144	0.38394	.	.	0.561097471998	0.55770	0.6000992533537909	0.59940	1.53222317347	0.87605	0.355705976486	0.18759	T	0.548407	0.84664	D	-0.417001	0.01788	T	-0.373875	0.36436	T	0.0450712634716505	0.04615	T	0.756024	0.48387	T	0.397754	0.60576	0.2696546	0.52848	0.397754	0.60577	0.2696546	0.52847	-9.266	0.69394	D	.	.	0.235	0.49078	B	.;.;.;.	.;.;.;.	5.478016	0.91348	32	0.99817111299830841	0.90061	0.81348	0.40770	D	AEFDGBCI	0.461300	0.51112	N	0.12144743292192	0.47464	2.971798	0.0456702509744604	0.41862	2.522201	0.999963247579836	0.48965	0.706548	0.73137	0	0.697927	0.68747	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.58	3.67	0.41236	1.852000	0.38988	3.185000	0.36675	0.599000	0.40250	0.897000	0.31356	1.000000	0.68203	0.996000	0.76049	0.0:0.9142:0.0:0.0858	11.108	0.47436	702	0.57624	Peptidase S8, pro-domain;Peptidase S8, pro-domain;Peptidase S8, pro-domain;Peptidase S8, pro-domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2059.11	35	chr15	90876318	.	C	T	2059.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.29;DP=824;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.30;ReadPosRankSum=0.765;SOR=0.689	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	19	0	2	0
chr15	90889374	90889374	G	A	exonic	FES	.	nonsynonymous SNV	FES:NM_001143783:exon4:c.G563A:p.R188Q	.	.	8	1502	12	0	0	12	0.00397878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.006	B	0.006	B	0.041	N	0.942	D	1.15	L	0.86	T	-1.081	T	0.074	T	0.139	0.822	8.312	-2.82	-1.000	0.070	7.016	0.030	0.0122615444331	.	0.000399361	0.0003	0	8.663e-05	0	0	0.0003	0.0011	0.0010	0.0002717	42	154602	rs34573430	0.0003	0.0003	0.0002	0.0003	0.0026	0.0002	0.0002	0.0016	0.0013	5.974e-05	0.0004	0	0	0	0.0026	0.0002	0.0004	0.0011	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0004	0.0003	0	0	0.0007	0	0.0002	0	0	0.0002	0.0009	0.0006	0.422	0.11334	T	0.589	0.08245	T	0.006	0.13644	B	0.003	0.12133	B	0.041486	0.23944	N	0.418487	0.840099	0.37354	D	0.125	0.08623	N	0.86	0.46777	T	-0.88	0.24460	N	0.184	0.20925	-1.0806	0.07233	T	0.074	0.29928	T	10	0.017479002	0.00373	T	0.012262	0.30673	T	0.030	0.07022	.	.	0.49741755877	0.49376	0.13702887122163093	0.13626	0.372278190048	0.38720	0.208515256643	0.00750	T	0.131451	0.46095	T	-0.53989	0.00335	T	-0.604639	0.12424	T	0.0154119841968866	0.00345	T	0.831417	0.53103	T	0.077290595	0.17533	0.047511037	0.06858	0.077290595	0.17533	0.047511037	0.06858	-4.651	0.36840	T	.	.	0.055	0.02765	B	.;.;.;.;.	.;.;.;.;.	0.844836	0.12165	8.715	0.83692518797843596	0.14866	0.47475	0.27991	N	AEFGBI	0.162468	0.28864	N	-0.929115688596873	0.10165	0.4844879	-0.88367058828063	0.12480	0.6422223	0.999978248444354	0.50053	0.736574	0.97449	0	0.633656	0.55848	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.71	-2.82	0.05442	0.080000	0.14657	-0.065000	0.12373	-0.131000	0.13161	0.951000	0.33123	0.127000	0.22962	0.775000	0.36711	0.5498:0.0:0.3287:0.1215	7.016	0.24066	684	0.59539	F-BAR domain;.;F-BAR domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1358.98	33	chr15	90889374	.	G	A	1358.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.39;DP=801;ExcessHet=0.0000;FS=7.983;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.44;ReadPosRankSum=2.24;SOR=1.596	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,114,1710	20	0	1	0
chr15	90909460	90909460	C	T	exonic	MAN2A2	.	nonsynonymous SNV	MAN2A2:NM_006122:exon9:c.C1330T:p.R444W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.967	D	0.000	D	1.000	D	2.505	M	1.91	T	-0.757	T	0.171	T	0.549	4.065	20.9	4.81	1.422	3.091	13.677	0.297	0.074877631857	.	0.000199681	2.473e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs533695393	3.284e-05	3.352e-05	3.403e-05	3.163e-05	6.956e-05	2.543e-05	2.249e-05	2.995e-05	2.305e-05	0	2.236e-05	0	0	1.872e-05	0	3.507e-05	1.656e-05	6.956e-05	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.002	0.72154	D	0.002	0.79402	D	0.998	0.73220	D	0.948	0.68536	D	0.000014	0.62929	D	0.113605	0.993785	0.81001	D	2.66	0.77858	M	1.91	0.23283	T	-5.1	0.83027	D	0.647	0.65844	-0.7573	0.57551	T	0.171	0.51181	T	10	0.3880512	0.54687	T	0.074878	0.72151	D	0.297	0.61730	0.596	0.72617	0.587872879989	0.58462	0.8861659850876773	0.88585	0.885982533807	0.69996	0.630673587322	0.57241	T	0.824705	0.95751	D	-0.204018	0.20227	T	-0.294166	0.45338	T	0.967939615249634	0.68074	D	0.970703	0.96434	D	0.7691214	0.81995	0.7917122	0.87751	0.7691214	0.81997	0.7917122	0.87752	-12.293	0.86248	D	.	.	0.186	0.55348	B	.;.;.	.;.;.	4.919604	0.81018	27.5	0.99895142767474399	0.96819	0.97568	0.75603	D	AEFDBI	0.406848	0.47917	N	0.621081797597444	0.74509	6.144911	0.57541408784043	0.73183	5.928797	0.999986251741613	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.74	4.81	0.61401	3.123000	0.50147	1.710000	0.28189	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.28:0.72:0.0:0.0	13.677	0.61936	639	0.64210	Glycoside hydrolase family 38, N-terminal domain;Glycoside hydrolase family 38, N-terminal domain;Glycoside hydrolase family 38, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1570.98	34	chr15	90909460	.	C	T	1570.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=961;ExcessHet=0.0000;FS=2.944;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=-1.719e+00;SOR=0.957	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr15	90931281	90931281	-	GTC	exonic	HDDC3	.	nonframeshift insertion	HDDC3:NM_001286451:exon4:c.533_534insGAC:p.T178_I179insT,	.	.	434	1074	14	0	0	14	0.00647549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00279553	0.0087	0.0009	0.0091	0	0.0036	0.0009	0.0096	0.0172	0.0003842	10	26028	rs554761360	0.0028	0.0027	0.0023	0.0033	0.0175	0.0027	0.0027	0.0167	0.0164	0.0002	0.0012	0	2.798e-05	0.0034	0.0046	0.0020	0.0028	0.0175	0.0022	0.0022	0.0018	0.0027	0.0191	0.0020	0.0020	0.0159	0.0147	0.0004	0	0.0014	0	0	0.0039	0	0.0024	0.0038	0.0191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2625.94	33	chr15	90931281	.	T	TGTC	2625.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.47;DP=965;ExcessHet=0.0000;FS=3.595;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.09;ReadPosRankSum=0.564;SOR=0.449	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr15	92630239	92630239	A	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.T451C:p.S151P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.984	D	0.000	D	1.000	D	1.995	M	0.84	T	-0.695	T	0.243	T	0.568	4.099	21.1	2.88	0.285	3.312	11.273	0.189	0.0370127425349	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.232e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.01	0.65728	D	0.999	0.77913	D	0.984	0.76113	D	0.000002	0.62929	D	0.000000	0.971522	0.81001	D	2.25	0.63811	M	0.84	0.47477	T	-3.52	0.68412	D	0.836	0.83167	-0.6952	0.60666	T	0.243	0.61142	T	10	0.6516975	0.69640	D	0.037013	0.57355	D	0.189	0.46613	0.326	0.30873	0.203808441222	0.19973	0.4683697378432957	0.46755	1.28596125054	0.82662	0.607195258141	0.53919	T	0.103651	0.41249	T	-0.0193351	0.48948	T	-0.26555	0.48267	T	0.985782146453857	0.76677	D	0.772023	0.40277	T	0.5808712	0.71656	0.694429	0.82011	0.5808712	0.71657	0.694429	0.82012	-11.545	0.82564	D	.	.	0.913	0.83689	P	.	.	3.664272	0.52068	23.2	0.99805816475953246	0.88995	0.70514	0.34622	D	AEFGBHCI	0.303491	0.41145	N	0.415262786789674	0.62260	4.439111	0.350009233512953	0.58506	4.021693	0.9999999986463	0.74766	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	2.88	0.32617	3.565000	0.53543	0.612000	0.20040	0.691000	0.84096	1.000000	0.71638	0.004000	0.18990	0.976000	0.56436	0.5445:0.4555:0.0:0.0	11.273	0.48384	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03846	122.96	89	chr15	92630239	.	A	G	122.96	.	AC=1;AF=0.038;AN=26;BaseQRankSum=-2.761e+00;DP=1920;ExcessHet=0.0000;FS=301.224;InbreedingCoeff=-0.1484;MLEAC=2;MLEAF=0.077;MQ=60.00;MQRankSum=0.00;QD=1.12;ReadPosRankSum=-1.802e+00;SOR=7.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,18:110:99:0|1:92630239_A_G:133,0,3313:92630239	12	0	1	8
chr15	92630242	92630242	C	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G448C:p.D150H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.966	D	0.000	D	1.000	D	2.305	M	-0.29	T	-0.147	T	0.392	T	0.666	2.912	15.70	5.31	2.489	6.837	17.723	0.311	0.073062026662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0016	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0	3.865e-05	0	0	0.0002	0.0002	8.467e-05	9.359e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	0.999	0.77913	D	0.966	0.71341	D	0.000026	0.55875	D	0.067157	0.873479	0.54805	D	2.415	0.69758	M	-0.29	0.67712	T	-6.37	0.91058	D	0.842	0.83781	-0.1468	0.78995	T	0.392	0.74554	T	10	0.8345976	0.82617	D	0.073062	0.71693	D	0.547	0.81193	0.638	0.77470	0.411401001288	0.40751	0.7881159167461645	0.78763	1.26599244295	0.82158	0.709424495697	0.68509	T	0.284843	0.65763	T	0.152206	0.69474	D	-0.0191427	0.69085	D	0.991113245487213	0.81371	D	0.873813	0.58316	D	0.7585243	0.81366	0.70495456	0.82608	0.7585243	0.81367	0.70495456	0.82609	-14.968	0.95777	D	.	.	0.987	0.92764	P	.	.	5.202349	0.87272	29.2	0.94001699280494422	0.24097	0.88850	0.48980	D	AEFGBHCI	0.899320	0.84358	D	0.493323972852971	0.66696	4.983993	0.544622876438528	0.71025	5.592279	1.0	0.98316	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.31	5.31	0.75063	7.180000	0.77215	7.433000	0.58809	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:1.0:0.0:0.0	17.723	0.88265	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2	169.72	89	chr15	92630242	.	C	G	169.72	.	AC=2;AF=0.200;AN=10;BaseQRankSum=-1.250e+00;DP=1430;ExcessHet=0.1072;FS=150.388;InbreedingCoeff=-0.3155;MLEAC=5;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=0.79;ReadPosRankSum=-1.849e+00;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,18:112:99:0|1:92630239_A_G:128,0,3351:92630239	3	0	2	16
chr15	92630243	92630243	C	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G447C:p.E149D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.905	P	0.642	P	0.000	D	0.878	N	1.175	L	1.32	T	-0.949	T	0.094	T	0.151	1.600	11.31	-3.77	-0.468	0.094	12.886	0.082	0.00647740870007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.931e-06	0.0002	2.735e-06	1.518e-05	1.085e-05	4.98e-06	3.84e-06	5.78e-06	4.57e-06	0	0	0	0	0	0	1.085e-05	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.14064	T	0.202	0.27414	T	0.905	0.49920	P	0.642	0.52168	P	0.000043	0.53742	D	0.070627	0.877532	0.28105	N	1.29	0.32370	L	1.32	0.35219	T	-1.78	0.42001	N	0.393	0.43417	-0.9486	0.41211	T	0.094	0.35631	T	10	0.22394639	0.39186	T	0.006477	0.17072	T	0.082	0.23913	0.268	0.21576	0.0138822411134	0.00435	0.271622458937736	0.27075	1.10128899491	0.77738	0.574964404106	0.49377	T	0.036879	0.24268	T	-0.214669	0.18726	T	-0.546133	0.17699	T	0.845151245594025	0.49752	D	0.824917	0.48720	T	0.10445555	0.24694	0.09527147	0.22589	0.10445555	0.24694	0.09527147	0.22588	-7.313	0.56288	T	.	.	0.225	0.45665	B	.	.	2.210674	0.28203	17.72	0.74021373359626774	0.10541	0.42009	0.26783	N	AEFGBHCI	0.099426	0.20014	N	-0.41939284014467	0.24789	1.341029	-0.432723637638818	0.24043	1.31443	0.999999998690202	0.74766	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	-3.77	0.04062	0.178000	0.16634	-0.583000	0.08366	-0.257000	0.07002	0.993000	0.37899	0.025000	0.21018	0.980000	0.58198	0.0:0.31:0.0:0.69	12.886	0.57433	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2	169.65	89	chr15	92630243	.	C	G	169.65	.	AC=2;AF=0.200;AN=10;BaseQRankSum=-1.021e+00;DP=1432;ExcessHet=0.1072;FS=158.605;InbreedingCoeff=-0.3155;MLEAC=5;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=0.79;ReadPosRankSum=-1.258e+00;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,18:112:99:0|1:92630239_A_G:128,0,3351:92630239	3	0	2	16
chr15	92630245	92630245	C	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G445C:p.E149Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.99	D	0.000	D	0.998	D	2.215	M	0.75	T	-0.227	T	0.332	T	0.339	2.881	15.60	5.38	2.525	6.837	17.872	0.193	0.0228964332442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.017	0.60337	D	1.0	0.90584	D	0.99	0.78936	D	0.000043	0.53742	D	0.070627	0.664441	0.44502	D	2.095	0.58118	M	0.75	0.50192	T	-2.73	0.58085	D	0.569	0.59223	-0.2273	0.76958	T	0.332	0.69960	T	10	0.60730934	0.67247	D	0.022896	0.45827	T	0.215	0.50805	0.404	0.43573	0.0401082797425	0.02173	0.4675481303851458	0.46673	1.15860135375	0.79410	0.565466284752	0.48038	T	0.190896	0.54557	T	-0.046153	0.45029	T	-0.304072	0.44293	T	0.961356455792854	0.66059	D	0.911409	0.68582	D	0.33561563	0.55928	0.20909509	0.45240	0.33561563	0.55928	0.20909509	0.45239	-8.763	0.66158	D	.	.	0.729	0.74160	P	.	.	4.587400	0.72525	25.8	0.98463620350359216	0.41768	0.88917	0.49082	D	AEFGBHCI	0.859421	0.77710	D	0.492419084689025	0.66645	4.977127	0.550374849278894	0.71422	5.652677	1.0	0.98316	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	5.38	0.77279	7.180000	0.77215	5.752000	0.49633	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	17.872	0.88730	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04167	30.59	48	chr15	92630245	.	C	G	30.59	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-3.542e+00;DP=1689;ExcessHet=0.0000;FS=64.873;InbreedingCoeff=-0.1649;MLEAC=2;MLEAF=0.083;MQ=60.00;MQRankSum=0.00;QD=0.30;ReadPosRankSum=-9.400e-02;SOR=4.606	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:73,0:73:99:.:.:0,120,1800	11	0	1	9
chr15	92630248	92630248	C	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G442C:p.D148H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.981	D	0.000	D	1.000	D	2.085	M	0.33	T	-0.287	T	0.366	T	0.428	2.842	15.47	5.38	2.525	6.837	17.872	0.233	0.061949749731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.981	0.75168	D	0.000043	0.53742	D	0.070627	0.900708	0.50402	D	2.31	0.66127	M	0.33	0.58323	T	-5.55	0.86222	D	0.575	0.59732	-0.2875	0.75334	T	0.366	0.72628	T	10	0.7053839	0.72704	D	0.06195	0.68497	D	0.414	0.72479	0.564	0.68499	0.270889551736	0.26708	0.5128981161307481	0.51211	1.26599244295	0.82158	0.566754460335	0.48220	T	0.120299	0.44244	T	0.0290487	0.55597	T	-0.19605	0.55021	T	0.996697545051575	0.89883	D	0.909109	0.67839	D	0.73887527	0.80228	0.72065765	0.83506	0.73887527	0.80230	0.72065765	0.83507	-15.3	0.96517	D	.	.	0.796	0.77121	P	.	.	5.036038	0.83793	28.1	0.9865365078314744	0.44233	0.88917	0.49082	D	AEFGBHCI	0.873922	0.79653	D	0.477504834894099	0.65780	4.865564	0.540136420362585	0.70713	5.545969	1.0	0.98316	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	5.38	0.77279	7.180000	0.77215	7.433000	0.58809	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	17.872	0.88730	957	0.09725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	37.02	48	chr15	92630248	.	C	G	37.02	.	AC=1;AF=0.100;AN=10;BaseQRankSum=-2.249e+00;DP=1361;ExcessHet=0.0000;FS=64.873;InbreedingCoeff=-0.2727;MLEAC=3;MLEAF=0.300;MQ=60.00;MQRankSum=0.00;QD=0.36;ReadPosRankSum=-2.920e-01;SOR=4.606	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:56,0:56:64:.:.:0,64,1627	4	0	1	16
chr15	94315605	94315605	A	C	exonic	MCTP2	.	nonsynonymous SNV	MCTP2:NM_001385009:exon3:c.A107C:p.E36A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	1.0	D	0.987	D	0.000	D	1.000	D	2.04	M	2.82	T	-1.151	T	0.079	T	0.877	4.479	24.0	6.07	2.326	5.214	14.152	0.276	0.0194971418049	.	.	1.654e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs746330087	6.157e-06	6.156e-06	2.722e-06	9.626e-06	0.0001	2.9e-06	2.1e-06	5.395e-05	4.042e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.031	0.53788	D	0.999	0.77913	D	0.98	0.74843	D	0.000000	0.84330	D	0.000000	0.999955	0.81001	D	2.37	0.68279	M	2.82	0.10871	T	-2.6	0.61580	D	0.73	0.73916	-1.1510	0.00995	T	0.079	0.31284	T	10	0.73445344	0.74523	D	0.019497	0.41878	T	0.276	0.59253	0.738	0.87063	0.36355261348	0.35965	0.678859021871515	0.67824	0.0723726540009	0.08115	0.577921628952	0.49793	T	0.168979	0.52858	T	0.035928	0.56509	T	-0.00464047	0.70033	D	0.956566154956818	0.64789	D	0.926707	0.75759	D	0.41542068	0.61785	0.26150337	0.51929	0.41542068	0.61786	0.26150337	0.51928	-9.915	0.75012	D	.	.	0.454	0.63960	A	.;.;.	.;.;.	4.556378	0.71761	25.7	0.99726025522203388	0.82406	0.91805	0.54300	D	AEFBI	0.620528	0.60556	D	0.718604980138414	0.80852	7.38704	0.724804289491219	0.84264	8.243293	0.999999817475057	0.74766	0.638212	0.43195	0	0.588066	0.40923	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	6.07	6.07	0.98675	5.673000	0.67781	11.151000	0.87351	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.152	0.64926	976	0.04745	C2 domain|C2 domain|C2 domain;.;C2 domain|C2 domain|C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1905.98	69	chr15	94315605	.	A	C	1905.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.070e-01;DP=1318;ExcessHet=0.0000;FS=1.151;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.36;ReadPosRankSum=-2.021e+00;SOR=0.627	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr15	94399031	94399031	T	C	exonic	MCTP2	.	nonsynonymous SNV	MCTP2:NM_001159644:exon7:c.T623C:p.I208T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.992	D	0.977	D	0.000	D	1.000	D	2.435	M	-0.05	T	0.271	D	0.582	D	0.932	4.015	20.6	5.37	2.038	5.655	15.387	0.783	0.119381004754	.	.	4.154e-05	0	0	0.0002	0	3.019e-05	0	6.095e-05	3.23e-05	5	154602	rs749725540	2.866e-06	2.738e-06	2.867e-06	2.865e-06	1.179e-05	6.7e-07	4.5e-07	7.6e-07	2.1e-07	0	0	0	0	0	0	2.852e-06	0	1.179e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	6.545e-05	0	0.0002	0	0	0	0	0	0.001	0.78490	D	0.001	0.83351	D	0.974	0.64738	D	0.959	0.73820	D	0.000000	0.84330	D	0.049645	0.999943	0.51968	D	2.625	0.76847	M	-0.77	0.73523	T	-4.4	0.79998	D	0.896	0.90138	0.271	0.87087	D	0.582	0.84955	D	10	0.82298005	0.81492	D	0.119381	0.79967	D	0.783	0.92787	0.551	0.66716	0.682740069428	0.68003	0.854472651593131	0.85410	0.142587795851	0.16085	0.695002555847	0.66424	T	0.485232	0.81221	T	0.162488	0.70430	D	0.260055	0.86094	D	0.829365253448486	0.48481	D	0.947205	0.79675	D	0.6759331	0.76751	0.66041696	0.80104	0.6759331	0.76752	0.66041696	0.80105	-13.405	0.90962	D	.	.	0.943	0.86244	P	.;.;.	.;.;.	4.510000	0.70621	25.5	0.99862710619670869	0.94093	0.96771	0.70851	D	AEFI	0.645957	0.62166	D	0.721996853339069	0.81075	7.438	0.688969717858763	0.81542	7.550916	0.912529131039958	0.26397	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.37	5.37	0.76949	5.256000	0.65286	7.839000	0.70444	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.387	0.74428	975	0.05339	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1030.98	33	chr15	94399031	.	T	C	1030.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.362;DP=797;ExcessHet=0.0000;FS=0.817;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=0.258;SOR=0.538	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1185	20	0	1	0
chr15	94458164	94458165	AG	-	exonic	MCTP2	.	frameshift deletion	MCTP2:NM_001385010:exon17:c.1615_1616del:p.R539Nfs*26	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-06	1.368e-06	1.365e-06	1.378e-06	1.803e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.803e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3952.94	35	chr15	94458163	.	AAG	A	3952.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.212;DP=886;ExcessHet=0.0000;FS=0.512;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.10;ReadPosRankSum=-1.465e+00;SOR=0.760	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1374	20	0	1	0
chr15	98911384	98911384	G	A	exonic	IGF1R	.	nonsynonymous SNV	IGF1R:NM_000875:exon7:c.G1532A:p.R511Q	Insulin-like growth factor I, resistance to, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	29833	Growth_delay_due_to_insulin-like_growth_factor_I_resistance|not_specified|not_provided	MONDO:MONDO:0010038,MedGen:C1849157,OMIM:270450,Orphanet:73273|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.56	T	0.476	P	0.027	B	0.000	D	1.000	A	2.255	M	-0.37	T	-0.611	T	0.226	T	0.714	3.064	16.23	5.67	2.837	4.891	14.326	0.254	0.02219603975	0.0015	0.000798722	0.0014	0.0003	0.0003	0	0.0002	0.0024	0.0022	0.0001	0.0016041	248	154602	rs33958176	0.0028	0.0028	0.0029	0.0027	0.0034	0.0027	0.0027	0.0033	0.0033	0.0002	0.0004	0.0028	0	0.0003	0.0007	0.0034	0.0027	0.0002	0.0017	0.0017	0.0018	0.0016	0.0030	0.0015	0.0015	0.0027	0.0026	0.0005	0	0.0014	0.0023	0	9.423e-05	0	0.0030	0.0014	0	0.597	0.06145	T	0.572	0.19073	T	0.188	0.36665	B	0.016	0.21085	B	0.000049	0.53742	D	0.000000	0.999848	0.49770	A	2.115	0.58683	M	-0.37	0.73949	T	-0.57	0.28906	N	0.349	0.42050	-0.6108	0.64370	T	0.226	0.59096	T	9	0.008615732	0.00195	T	0.022196	0.45064	T	0.254	0.56428	.	.	0.846087805279	0.84461	0.7290749888736927	0.72852	0.733860430023	0.62867	0.52810561657	0.42767	T	0.440796	0.78557	T	-0.203307	0.20328	T	-0.053136	0.66807	D	0.0205880874629327	0.00759	T	0.918008	0.78384	D	0.20096453	0.42090	0.14691411	0.34789	0.23413454	0.46229	0.1346258	0.32254	-7.346	0.56522	T	0.2843677419150365	0.38015	0.165	0.36436	B	.;.;.;.;.	.;.;.;.;.	4.300004	0.65647	24.9	0.99733804624893996	0.82975	0.96552	0.69711	D	AEFGBI	0.385957	0.46650	N	0.202412991127524	0.51316	3.313809	0.344738443105416	0.58190	3.988267	0.999999972204837	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.67	5.67	0.87673	5.003000	0.63708	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.071:0.0:0.9289:0.0	14.326	0.66079	988	0.01987	Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2239.98	36	chr15	98911384	.	G	A	2239.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=861;ExcessHet=0.0000;FS=2.676;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.10;ReadPosRankSum=-4.100e-01;SOR=0.542	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1315	20	0	1	0
chr15	99130596	99130596	G	C	exonic	SYNM	.	nonsynonymous SNV	SYNM:NM_015286:exon4:c.G2236C:p.V746L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	.	.	1.000	D	.	.	-3.11	D	0.923	D	0.867	D	0.57	3.840	19.50	4.55	1.438	8.668	13.495	0.782	0.4652110572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.029	0.54541	D	.	.	.	.	.	.	.	.	.	.	0.999961	0.52935	D	.	.	.	-1.95	0.92774	D	-1.86	0.43524	N	0.662	0.67132	0.923	0.96008	D	0.867	0.95570	D	8	0.86890686	0.86147	D	0.465211	0.94583	D	0.782	0.92746	0.659	0.79689	0.790923931432	0.78898	0.7042032887819253	0.70362	0.647298771273	0.58112	0.451705038548	0.32176	T	0.186456	0.53976	T	0.218309	0.75616	D	0.0758093	0.75298	D	0.953086050751277	0.63944	D	0.845515	0.52437	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.683	0.77283	P	.;.;.	.;.;.	4.124841	0.61682	24.4	0.99751152247336383	0.84305	0.95952	0.66868	D	AEFDGBCIJ	0.901117	0.84743	D	0.633473376476093	0.75301	6.28219	0.595288522141523	0.74601	6.164919	0.999999999999952	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.654926	0.60358	0	.	.	5.46	4.55	0.55429	8.832000	0.91692	11.773000	0.95911	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.285000	0.24139	0.0749:0.0:0.9251:0.0	13.495	0.60871	981	0.03995	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1642.98	100	chr15	99130596	.	G	C	1642.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=1410;ExcessHet=0.0000;FS=1.394;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.74;ReadPosRankSum=-6.670e-01;SOR=0.857	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1220	20	0	1	0
chr15	99131220	99131220	G	A	exonic	SYNM	.	nonsynonymous SNV	SYNM:NM_015286:exon4:c.G2860A:p.G954R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.998	D	0.753	P	.	.	0.987	D	.	.	-1.76	D	0.344	D	0.642	D	0.761	4.638	25.4	5.64	2.653	8.724	18.706	0.498	0.127472084466	.	.	1.15e-05	0	0	0	0	2.049e-05	0	0	1.29e-05	2	154602	rs782242404	1.03e-05	1.094e-05	1.092e-05	9.668e-06	1.352e-05	6.18e-06	4.9e-06	8.11e-06	6.43e-06	0	0	0	0	0	0	1.352e-05	0	0	3.945e-05	3.94e-05	3.856e-05	4.037e-05	0.0001	1.716e-05	1.13e-05	4.742e-05	3.056e-05	0.0001	0	0	0	0	9.422e-05	0	0	0	0	0.075	0.34444	T	0.112	0.39954	T	.	.	.	.	.	.	.	.	.	.	0.986658	0.40465	D	.	.	.	-0.64	0.83737	T	-1.77	0.41809	N	0.361	0.48689	0.344	0.88242	D	0.642	0.87493	D	8	0.38764554	0.54659	T	0.127472	0.80928	D	0.498	0.78226	0.307	0.27806	0.820040435201	0.81834	0.4007697264629128	0.39991	0.701317164615	0.61143	0.352596610785	0.18303	T	0.055162	0.29929	T	0.11618	0.65986	D	0.11438	0.77862	D	0.785590529441833	0.45403	D	0.867913	0.56927	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.46073	B	.;.;.	.;.;.	5.117928	0.85593	28.6	0.99929947170949485	0.99334	0.96259	0.68271	D	AEFDBCI	0.921099	0.89404	D	0.722671165131149	0.81118	7.448115	0.750750052318028	0.86211	8.817966	0.999999999999953	0.74766	0.653281	0.48532	0	0.588066	0.40923	0	0.658983	0.55881	0	0.669	0.65921	0	.	.	5.64	5.64	0.86480	8.918000	0.92345	9.856000	0.82023	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.0:1.0:0.0	18.706	0.91599	981	0.03995	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1469.98	109	chr15	99131220	.	G	A	1469.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.00;DP=2098;ExcessHet=0.0000;FS=2.312;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=0.837;SOR=0.839	GT:AD:DP:GQ:PL	0/0:91,0:91:99:0,119,1800	20	0	1	0
chr15	99363241	99363241	C	T	exonic	LRRC28	.	nonsynonymous SNV	LRRC28:NM_001321677:exon8:c.C800T:p.T267M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.996	D	0.000	D	1.000	D	1.78	L	1.42	T	-0.739	T	0.248	T	0.743	5.009	29.5	5.76	2.718	7.246	18.952	0.201	0.0249721474467	.	.	8.3e-06	0	0	0	0	1.51e-05	0	0	6.5e-06	1	154602	rs754326200	1.231e-05	1.3e-05	1.498e-05	9.627e-06	1.169e-05	7.7e-06	6.35e-06	6.52e-06	5.03e-06	0	0	0	0	0	0	1.169e-05	6.624e-05	1.159e-05	6.57e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.018	0.91255	D	0.018	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.33	0.66821	M	0.96	0.57575	T	-0.79	0.21860	N	0.785	0.78167	-0.7389	0.58509	T	0.248	0.61693	T	10	0.55770427	0.64611	D	0.024972	0.47953	T	0.201	0.48592	0.331	0.31681	0.85048573804	0.84905	0.571152180865021	0.57043	0.500155710642	0.48436	0.709952712059	0.68586	T	0.070732	0.34033	T	0.08874	0.63046	D	-0.00967755	0.69706	D	0.86906909942627	0.51901	D	0.948305	0.80045	D	0.18210045	0.39412	0.17979437	0.40737	0.18210045	0.39412	0.17979437	0.40737	-3.698	0.19289	T	.	.	0.195	0.65846	B	.;.	.;.	5.231331	0.87810	29.4	0.99931309783792388	0.99387	0.97663	0.76248	D	AEFBHCI	0.876546	0.80061	D	0.797723185120224	0.85962	8.735801	0.805963988535561	0.90203	10.30245	0.99999999999671	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.76	5.76	0.90726	7.330000	0.78442	7.546000	0.60178	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	18.952	0.92618	918	0.19598	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1200.98	33	chr15	99363241	.	C	T	1200.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.66;DP=781;ExcessHet=0.0000;FS=8.473;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=0.049;SOR=1.507	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1255	20	0	1	0
chr15	99712514	99712519	CAGCAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1033_1038del:p.Q351_Q352del	.	.	0	60	66	37	63	203	0.538462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	25897.93	76	chr15	99712504	.	CCAGCAGCAGCAGCAG	CCAGCAGCAG,C,CCAGCAGCAGCAG	25897.93	.	AC=12,1,3;AF=0.286,0.024,0.071;AN=42;BaseQRankSum=-6.810e-01;DP=1837;ExcessHet=1.5101;FS=3.269;InbreedingCoeff=-0.0096;MLEAC=12,1,3;MLEAF=0.286,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=22.78;ReadPosRankSum=0.134;SOR=0.795	GT:AD:DP:GQ:PL	0/1:47,50,0,0:97:99:1932,0,1819,2073,1971,4045,2073,1971,4045,4045	8	2	8	0
chr15	99712505	99712519	CAGCAGCAGCAGCAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1024_1038del:p.Q348_Q352del	.	.	0	60	66	37	63	203	0.538462	.	.	3207195	MEF2A-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0051	.	0.0163	0.0020	0.0084	0	0.0006	0.0040	0.0093	0.0378	0.0001537	4	26028	rs748617871	0.0057	0.0054	0.0048	0.0066	0.0328	0.0056	0.0056	0.0318	0.0313	0.0011	0.0209	0.0009	0.0019	0.0015	0.0269	0.0036	0.0059	0.0328	0.0056	0.0056	0.0050	0.0061	0.0227	0.0052	0.0051	0.0192	0.0179	0.0014	0	0.0195	0.0003	0.0010	0.0019	0.0510	0.0048	0.0072	0.0227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	25897.93	76	chr15	99712504	.	CCAGCAGCAGCAGCAG	CCAGCAGCAG,C,CCAGCAGCAGCAG	25897.93	.	AC=12,1,3;AF=0.286,0.024,0.071;AN=42;BaseQRankSum=-6.810e-01;DP=1837;ExcessHet=1.5101;FS=3.269;InbreedingCoeff=-0.0096;MLEAC=12,1,3;MLEAF=0.286,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=22.78;ReadPosRankSum=0.134;SOR=0.795	GT:AD:DP:GQ:PL	0/1:47,50,0,0:97:99:1932,0,1819,2073,1971,4045,2073,1971,4045,4045	8	2	8	0
chr15	99712517	99712519	CAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1036_1038del:p.Q352del	.	.	0	60	66	37	63	203	0.538462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	25897.93	76	chr15	99712504	.	CCAGCAGCAGCAGCAG	CCAGCAGCAG,C,CCAGCAGCAGCAG	25897.93	.	AC=12,1,3;AF=0.286,0.024,0.071;AN=42;BaseQRankSum=-6.810e-01;DP=1837;ExcessHet=1.5101;FS=3.269;InbreedingCoeff=-0.0096;MLEAC=12,1,3;MLEAF=0.286,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=22.78;ReadPosRankSum=0.134;SOR=0.795	GT:AD:DP:GQ:PL	0/1:47,50,0,0:97:99:1932,0,1819,2073,1971,4045,2073,1971,4045,4045	8	2	8	0
chr15	99712688	99712688	A	G	exonic	MEF2A	.	nonsynonymous SNV	MEF2A:NM_001130928:exon8:c.A1207G:p.I403V	.	.	419	1101	2	0	0	2	0.000907441	.	.	714707	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.42	T	0.0	B	0.002	B	0.071	N	1.000	N	0.41	N	0.32	T	-1.042	T	0.061	T	0.102	0.157	4.843	-4.02	-0.584	0.506	11.064	0.052	0.00702000094738	0.0043	0.00139776	0.0062	0.0051	0.0034	0.0012	0.0011	0.0095	0.0036	0.0033	0.0030077	465	154602	rs111748677	0.0058	0.0057	0.0059	0.0057	0.0069	0.0057	0.0057	0.0067	0.0067	0.0022	0.0011	0.0015	0.0001	0.0012	0.0014	0.0069	0.0052	0.0028	0.0036	0.0036	0.0038	0.0034	0.0058	0.0033	0.0032	0.0054	0.0052	0.0023	0.0121	0.0012	0.0003	0.0004	0.0004	0	0.0058	0.0005	0.0031	0.4	0.10482	T	0.697	0.05786	T	0.0	0.02946	B	0.002	0.06944	B	0.070929	0.21506	N	0.529831	1	0.08975	N	.	.	.	0.32	0.58468	T	-0.25	0.11008	N	0.016	0.00527	-1.0419	0.16741	T	0.061	0.25528	T	10	0.004247755	0.00085	T	0.00702	0.18594	T	0.052	0.14661	.	.	0.043077524339	0.03247	0.0719145315618752	0.07128	0.0589115962734	0.06543	0.25978192687	0.04865	T	.	.	.	-0.553456	0.00278	T	-0.563632	0.16036	T	0.00261757542921764	0.00027	T	0.861714	0.57103	D	.	.	.	.	.	.	.	.	-1.47	0.02959	T	.	.	0.050	0.00175	B	.;.;.;.;.;.	.;.;.;.;.;.	0.328861	0.07030	3.591	0.69050478693779871	0.08849	0.08095	0.14065	N	AEFDBHI	0.051521	0.09111	N	-1.31299398835606	0.03525	0.1576385	-1.27743525972041	0.04736	0.2241311	0.999966042876436	0.48965	0.77792	0.99625	0	0.702456	0.74545	0	0.854111	0.99894	0	0.714379	0.83352	0	.	.	5.97	-4.02	0.03764	0.523000	0.22632	-0.136000	0.11567	-0.566000	0.04804	0.074000	0.22182	0.000000	0.08366	0.914000	0.44937	0.3463:0.1087:0.5451:0.0	11.064	0.47182	728	0.54609	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1008.98	47	chr15	99712688	.	A	G	1008.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.310e+00;DP=918;ExcessHet=0.0000;FS=2.501;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.93;ReadPosRankSum=0.974;SOR=1.003	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr15	99997468	99997468	A	C	exonic	ADAMTS17	.	nonsynonymous SNV	ADAMTS17:NM_139057:exon19:c.T2713G:p.C905G,	Weill-Marchesani-like syndrome, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.999	D	0.997	D	0.000	D	1.000	D	4.45	H	-0.69	T	0.740	D	0.708	D	0.887	3.348	17.27	5.06	1.885	8.313	14.790	0.821	0.256385721283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.041	0.50514	D	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.17	0.97676	H	-0.69	0.72678	T	-9.13	0.98199	D	0.872	0.86941	0.740	0.93670	D	0.708	0.89973	D	10	0.98335457	0.98468	D	0.256386	0.89328	D	0.821	0.94276	0.862	0.95885	0.968495154321	0.96816	0.7650599550904532	0.76454	0.546196756565	0.51621	0.657229423523	0.61014	T	0.405866	0.76192	T	0.375894	0.88444	D	0.302169	0.88297	D	0.999855518341064	0.99363	D	0.842116	0.51841	T	0.93847024	0.95092	0.9212139	0.96484	0.93847024	0.95092	0.9212139	0.96484	-12.014	0.84920	D	.	.	0.968	0.89183	P	.	.	4.786617	0.77637	26.7	0.98225299100927854	0.39343	0.93837	0.59334	D	AEFDBCI	0.953208	0.96931	D	0.898897908610126	0.91705	11.02127	0.74569077765056	0.85833	8.700672	0.999998713414151	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.608075	0.38828	0	0.620846	0.47308	0	.	.	5.06	5.06	0.67838	8.313000	0.89896	11.160000	0.87621	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	1.0:0.0:0.0:0.0	14.790	0.69455	944	0.12746	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2051.98	36	chr15	99997468	.	A	C	2051.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.115e+00;DP=840;ExcessHet=0.0000;FS=1.387;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.87;ReadPosRankSum=-1.202e+00;SOR=0.849	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1301	20	0	1	0
chr15	100116895	100116895	G	A	exonic	ADAMTS17	.	nonsynonymous SNV	ADAMTS17:NM_139057:exon13:c.C1840T:p.R614W,	Weill-Marchesani-like syndrome, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	340001	not_provided|Weill-Marchesani_4_syndrome,_recessive	MedGen:C3661900|MONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195,Orphanet:363992	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.711	P	0.000	D	1.000	D	1.1	L	0.27	T	-0.661	T	0.218	T	0.711	4.406	23.4	5.18	2.419	2.299	14.527	0.244	.	.	0.00279553	0.0016	0	8.652e-05	0	0	0	0	0.0117	0.0013713	212	154602	rs200745301	0.0007	0.0007	0.0004	0.0010	0.0114	0.0007	0.0007	0.0108	0.0105	5.974e-05	2.236e-05	0	0.0002	0	0.0003	1.799e-05	0.0009	0.0114	0.0004	0.0004	0.0003	0.0006	0.0128	0.0004	0.0003	0.0103	0.0094	4.811e-05	0	6.534e-05	0	0	0	0	1.47e-05	0.0005	0.0128	0.188	0.21304	T	0.027	0.55341	D	0.997	0.70673	D	0.543	0.48966	P	0.000202	0.47681	D	0.086238	0.999992	0.58761	D	2.175	0.60977	M	0.27	0.59176	T	-3.13	0.63901	D	0.656	0.66615	-0.6615	0.62210	T	0.218	0.58098	T	10	0.010222256	0.00228	T	.	.	.	0.244	0.55061	0.568	0.69034	0.898038114599	0.89702	0.6289319711723774	0.62826	0.420963420729	0.42612	0.537321329117	0.44067	T	0.140457	0.47501	T	-0.257784	0.13161	T	-0.133671	0.60662	T	0.129016726531123	0.15290	T	0.934107	0.75346	D	0.15099546	0.34347	0.14421499	0.34247	0.15099546	0.34347	0.14421499	0.34246	-9.989	0.73846	D	.	.	0.103	0.18580	B	.	.	4.391940	0.67793	25.1	0.99927502285514014	0.99163	0.87495	0.47053	D	AEFDBI	0.797408	0.72426	D	0.440602389736644	0.63673	4.605529	0.477967459256511	0.66531	4.964448	0.999999998062117	0.74766	0.57788	0.32782	0	0.573888	0.26702	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	5.18	5.18	0.71140	2.368000	0.43875	4.412000	0.43285	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.909000	0.44452	0.0:0.0:0.8441:0.1559	14.527	0.67478	821	0.40814	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1301.98	33	chr15	100116895	.	G	A	1301.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.370e-01;DP=788;ExcessHet=0.0000;FS=1.658;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=-1.322e+00;SOR=0.569	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1145	20	0	1	0
chr15	100155297	100155297	T	C	exonic	ADAMTS17	.	nonsynonymous SNV	ADAMTS17:NM_139057:exon9:c.A1205G:p.D402G,	Weill-Marchesani-like syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.957	D	0.794	P	0.000	D	1.000	D	1.01	L	-2.36	D	0.232	D	0.656	D	0.412	4.615	25.2	5.38	2.014	7.199	15.389	0.578	0.145872281127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.032	0.53426	D	0.722	0.42387	P	0.432	0.45448	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.4	0.35362	L	-2.36	0.88143	D	-3.33	0.66206	D	0.793	0.78927	0.232	0.86444	D	0.656	0.88046	D	10	0.8096452	0.80263	D	0.145872	0.82803	D	0.578	0.82968	0.495	0.58363	0.929028814351	0.92829	0.7127895700829013	0.71220	0.471285008066	0.46396	0.685898780823	0.65115	T	0.167889	0.51469	T	0.0879301	0.62955	D	-0.111471	0.62494	T	0.992382109165192	0.82850	D	0.783622	0.42065	T	0.5159761	0.68028	0.48041055	0.69908	0.5159761	0.68029	0.48041055	0.69908	-5.562	0.42444	T	.	.	0.550	0.66790	A	.	.	3.760620	0.53956	23.4	0.99837479127836082	0.91800	0.96357	0.68743	D	AEFDBI	0.878318	0.80350	D	0.385347130836709	0.60628	4.253767	0.451866582730141	0.64837	4.748256	0.999999979339677	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.38	5.38	0.77279	7.183000	0.77236	6.196000	0.54830	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:0.0:0.0:1.0	15.389	0.74446	802	0.44336	Peptidase M12B, ADAM/reprolysin|Peptidase M12B, ADAM/reprolysin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1440.98	38	chr15	100155297	.	T	C	1440.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.750;DP=895;ExcessHet=0.0000;FS=1.591;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=-2.233e+00;SOR=0.911	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	20	0	1	0
chr15	100456011	100456011	T	C	exonic	CERS3	.	nonsynonymous SNV	CERS3:NM_001378789:exon11:c.A881G:p.H294R	Ichthyosis, congenital, autosomal recessive 9, Autosomal recessive	.	439	1045	36	2	0	40	0.0187793	.	.	1168314	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.33	T	0.004	B	0.003	B	0.049	N	1.000	N	-0.695	N	-1.87	D	-1.006	T	0.045	T	0.2	0.547	6.959	5.66	2.157	1.967	12.284	0.237	.	0.0024	0.0185703	0.0103	0.0053	0.0556	0.0111	0	0.0012	0.0044	0.0221	0.0103362	1598	154602	rs114065539	0.0045	0.0045	0.0042	0.0048	0.0610	0.0044	0.0044	0.0591	0.0583	0.0038	0.0610	0.0020	0.0104	0	0.0096	0.0008	0.0071	0.0226	0.0082	0.0082	0.0073	0.0091	0.0491	0.0078	0.0076	0.0462	0.0450	0.0049	0	0.0491	0.0017	0.0118	0	0.0034	0.0012	0.0137	0.0236	0.322	0.13479	T	0.304	0.20100	T	0.004	0.12183	B	0.003	0.08700	B	0.049068	0.23194	N	0.463226	1	0.08975	N	-0.205	0.04094	N	-1.87	0.84415	D	-1.04	0.27259	N	0.13	0.12484	-1.0063	0.28065	T	0.045	0.19518	T	10	0.004370272	0.00089	T	.	.	.	0.237	0.54074	.	.	.	.	0.24044158694867285	0.23958	0.155856096555	0.17590	0.428422182798	0.28993	T	0.178777	0.52954	T	-0.444213	0.01222	T	-0.362179	0.37800	T	0.014153291741859	0.00277	T	0.158484	0.01410	T	0.10032456	0.23688	0.09860937	0.23514	0.10527182	0.24889	0.09860937	0.23514	-2.74	0.07645	T	0.10677460984451233	0.08618	0.076	0.05756	B	.;.;.	.;.;.	2.400406	0.30838	18.56	0.87877597731952883	0.17549	0.31874	0.24446	N	AEFGBI	0.077620	0.15643	N	-0.56008305979443	0.20168	1.061251	-0.36937976478449	0.25915	1.428153	0.0952573484991105	0.16223	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.66	5.66	0.87293	2.151000	0.41888	6.209000	0.54989	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	0.694000	0.33958	0.0:0.0:0.0:1.0	12.284	0.54102	970	0.06235	TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain;TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain;TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.1429	5162.03	108	chr15	100456011	.	T	C	5162.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-1.319e+00;DP=1107;ExcessHet=1.7912;FS=0.000;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=10.51;ReadPosRankSum=0.236;SOR=0.699	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	15	0	6	0
chr15	100983589	100983589	G	A	exonic	LRRK1	.	nonsynonymous SNV	LRRK1:NM_024652:exon4:c.G323A:p.S108N,	.	.	9	1507	6	0	0	6	0.00198675	.	.	1508802	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.35	T	0.095	B	0.023	B	0.047	N	1.000	N	1.14	L	-0.05	T	-1.016	T	0.139	T	0.026	1.420	10.69	3.67	1.410	3.379	7.735	0.094	0.0175183154159	0.0002	.	6.626e-05	0	0	0	0	0.0001	0	6.056e-05	5.82e-05	9	154602	rs202052348	8.699e-05	8.961e-05	7.769e-05	9.638e-05	0.0005	7.43e-05	6.978e-05	0.0001	7.55e-05	0	0	0.0004	0	0	0.0005	9.273e-05	8.292e-05	6.971e-05	0.0001	0.0001	0.0001	0.0001	0.0002	7.579e-05	6.283e-05	0.0001	8.876e-05	2.414e-05	0	6.543e-05	0.0006	0	0	0	0.0002	0.0005	0	0.347	0.21801	T	0.087	0.40747	T	0.014	0.25437	B	0.023	0.19966	B	0.046568	0.23426	N	0.395801	0.999923	0.19486	N	1.32	0.33002	L	-0.05	0.63403	T	-0.28	0.25551	N	0.15	0.18784	-1.0165	0.24852	T	0.139	0.45678	T	10	0.0711461	0.10449	T	0.017518	0.39251	T	0.094	0.27141	.	.	0.737560557814	0.73521	0.11642382319556138	0.11570	0.40056367643	0.41057	0.284676104784	0.08153	T	0.019237	0.15365	T	-0.412051	0.01926	T	-0.592991	0.13408	T	0.0247764471788347	0.01243	T	0.776522	0.44372	T	0.024447296	0.01277	0.04369911	0.05494	0.024447296	0.01277	0.04369911	0.05494	-5.209	0.39705	T	.	.	0.102	0.20117	B	.;.	.;.	1.454794	0.18762	13.91	0.95641405342607844	0.27441	0.55218	0.29809	D	AEFGBI	0.043419	0.06861	N	-0.549664044128928	0.20494	1.080773	-0.446889590946287	0.23636	1.290078	0.999961745742374	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.71	3.67	0.41236	3.410000	0.52417	1.824000	0.29063	-0.244000	0.07312	0.998000	0.41325	0.928000	0.28476	0.014000	0.10232	0.3425:0.537:0.1205:0.0	7.735	0.27973	871	0.31377	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1526.98	33	chr15	100983589	.	G	A	1526.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.686;DP=894;ExcessHet=0.0000;FS=5.270;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=1.28;SOR=0.368	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1130	20	0	1	0
chr15	101024824	101024824	G	A	exonic	LRRK1	.	nonsynonymous SNV	LRRK1:NM_024652:exon16:c.G2089A:p.V697I,	.	.	9	1502	9	2	0	13	0.00430892	.	.	714308	not_provided|LRRK1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.13	T	0.954	P	0.58	P	0.000	D	1.000	D	1.5	L	-1.14	T	-0.185	T	0.431	T	0.357	5.596	35	5.11	2.360	9.649	18.543	0.329	0.0553716904906	0.0037	0.00199681	0.0042	0.0011	0.0016	0.0002	0.0003	0.0052	0.0033	0.0077	0.0041267	638	154602	rs141102052	0.0050	0.0050	0.0049	0.0051	0.0071	0.0049	0.0049	0.0066	0.0065	0.0006	0.0013	0.0182	7.557e-05	0.0006	0.0019	0.0053	0.0046	0.0071	0.0033	0.0033	0.0036	0.0030	0.0054	0.0031	0.0030	0.0048	0.0046	0.0009	0	0.0010	0.0161	0.0002	0.0005	0	0.0052	0.0019	0.0054	0.08	0.33585	T	0.018	0.59732	D	0.954	0.54400	P	0.58	0.50189	P	0.000000	0.84330	D	0.000000	0.999992	0.58761	D	1.72	0.44442	L	-1.14	0.77843	T	-0.84	0.22944	N	0.49	0.52386	-0.1847	0.78062	T	0.431	0.77310	T	10	0.013418198	0.00285	T	0.055372	0.66211	D	0.329	0.65126	.	.	0.910121045679	0.90922	0.6598390887673445	0.65920	1.07412071939	0.76914	0.552732050419	0.46243	T	0.023773	0.18090	T	-0.273864	0.11329	T	-0.162437	0.58131	T	0.0485136249371543	0.05235	T	0.913209	0.69058	D	0.20210762	0.42244	0.16487257	0.38171	0.20210762	0.42244	0.16487257	0.38171	-6.573	0.50846	T	.	.	0.093	0.14201	B	.	.	5.001371	0.82982	27.9	0.99901548711944554	0.97350	0.96672	0.70327	D	AEFBCI	0.854361	0.77139	D	0.634475667438432	0.75368	6.293462	0.675232783454419	0.80501	7.313228	0.99999999999998	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.11	5.11	0.69188	9.924000	0.98795	11.771000	0.95863	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.543	0.90987	855	0.34697	Roc domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1434.98	34	chr15	101024824	.	G	A	1434.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=800;ExcessHet=0.0000;FS=0.702;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=1.32;SOR=0.624	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr15	101027707	101027707	G	A	exonic	LRRK1	.	nonsynonymous SNV	LRRK1:NM_024652:exon19:c.G2596A:p.D866N,	.	.	9	1491	21	1	0	23	0.00765391	.	.	1645900	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.38	T	0.001	B	0.001	B	0.009	N	1.000	N	1.1	L	-0.64	T	-0.996	T	0.172	T	0.043	2.129	13.07	0.155	-0.168	3.000	6.277	0.098	0.0251053380935	0.0013	0.000599042	0.0020	0.0008	0.0021	0	0	0.0023	0.0077	0.0026	0.001533	237	154602	rs56003881	0.0023	0.0023	0.0023	0.0024	0.0028	0.0023	0.0022	0.0025	0.0025	0.0003	0.0013	0.0001	0.0001	0.0001	0.0019	0.0026	0.0024	0.0028	0.0015	0.0015	0.0015	0.0015	0.0026	0.0014	0.0013	0.0023	0.0022	0.0005	0.0055	0.0008	0	0	0	0	0.0026	0.0009	0.0023	0.209	0.19710	T	0.011	0.64786	D	0.001	0.07471	B	0.001	0.04355	B	0.009444	0.30355	N	0.335804	0.964108	0.25996	N	1.39	0.34934	L	-0.64	0.72125	T	-1.4	0.34596	N	0.247	0.27910	-0.9964	0.30919	T	0.172	0.51484	T	10	0.01001507	0.00224	T	0.025105	0.48090	D	0.098	0.28162	.	.	0.697069699389	0.69445	0.17080541795461415	0.17000	0.389754045983	0.40207	0.315394818783	0.12723	T	0.103028	0.41130	T	-0.545726	0.00309	T	-0.561289	0.16256	T	0.0259379484922447	0.01398	T	0.69603	0.30552	T	0.04253502	0.06467	0.03657438	0.03131	0.04253502	0.06467	0.03657438	0.03131	-4.671	0.33051	T	.	.	0.071	0.03736	B	.	.	1.753601	0.22309	15.57	0.97687908812560431	0.35358	0.85425	0.44556	D	AEFDBCI	0.300924	0.40958	N	-0.792013391756165	0.13518	0.6664582	-0.741333180526867	0.15935	0.8405747	0.999973752631467	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	4.35	0.155	0.14200	3.168000	0.50501	1.813000	0.28978	-0.677000	0.04263	1.000000	0.71638	0.906000	0.28050	0.042000	0.14466	0.2326:0.1375:0.6299:0.0	6.277	0.20193	854	0.34840	C-terminal of Roc (COR) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1322.98	34	chr15	101027707	.	G	A	1322.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.609;DP=815;ExcessHet=0.0000;FS=1.478;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=1.31;SOR=0.910	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1348	20	0	1	0
chr15	101065824	101065824	C	A	exonic	LRRK1	.	nonsynonymous SNV	LRRK1:NM_024652:exon32:c.C5387A:p.P1796H,	.	.	8	1496	17	1	0	19	0.0063102	.	.	714310	Osteosclerotic_metaphyseal_dysplasia|LRRK1-related_disorder|not_provided	MONDO:MONDO:0014080,MedGen:C3554665,OMIM:615198,Orphanet:500548|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.19	T	0.102	B	0.078	B	0.620	N	1.000	N	0.895	L	-0.62	T	-0.951	T	0.139	T	0.201	0.812	8.266	2.39	0.729	0.512	2.879	0.109	.	0.0061	0.00359425	0.0052	0.0015	0.0032	0	0.0027	0.0078	0.0090	0.0020	0.0052457	811	154602	rs34876840	0.0073	0.0073	0.0073	0.0072	0.0085	0.0072	0.0071	0.0084	0.0083	0.0016	0.0038	0.0054	2.519e-05	0.0033	0.0078	0.0085	0.0068	0.0023	0.0054	0.0054	0.0058	0.0050	0.0093	0.0051	0.0050	0.0087	0.0085	0.0016	0	0.0038	0.0046	0	0.0027	0	0.0093	0.0047	0.0029	0.072	0.34982	T	0.139	0.33666	T	0.102	0.25827	B	0.078	0.28627	B	0.620128	0.10786	N	0.851070	1	0.08975	N	1.245	0.31408	L	-0.62	0.71895	T	-0.75	0.21003	N	0.282	0.31925	-0.9511	0.40782	T	0.139	0.45734	T	10	0.004338801	0.00088	T	.	.	.	0.109	0.30843	.	.	0.825207846642	0.82355	0.16525511268245346	0.16445	0.604833836903	0.55405	0.271727979183	0.06368	T	0.013598	0.11729	T	-0.450204	0.01126	T	-0.410068	0.32218	T	0.00675985559278786	0.00076	T	0.417558	0.11011	T	0.044869	0.07246	0.04704456	0.06690	0.044869	0.07245	0.04704456	0.06690	-4.501	0.30902	T	.	.	0.083	0.09336	B	.	.	0.662888	0.10314	7.044	0.98318536786935773	0.40212	0.43952	0.27212	N	AEFDBCI	.	.	.	-0.772657777270142	0.14025	0.6953917	-0.78439514408433	0.14878	0.7796571	0.998318858286701	0.36741	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.7	2.39	0.28492	0.993000	0.29281	0.368000	0.17646	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.4378:0.2424:0.3199	2.879	0.05294	870	0.31527	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1491.98	35	chr15	101065824	.	C	A	1491.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=0.256;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1258	20	0	1	0
chr15	101364965	101364965	C	T	exonic	PCSK6	.	stopgain	PCSK6:NM_138325:exon14:c.G1938A:p.W646X,	.	.	436	1078	8	0	0	8	0.00369686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	2.149	13.14	-0.457	-0.139	0.018	3.895	.	.	0.0026	0.00179712	0.0033	0.0004	0.0028	0	0.0018	0.0050	0.0027	0.0003	0.0027231	421	154602	rs116852656	0.0032	0.0032	0.0031	0.0032	0.0123	0.0031	0.0030	0.0096	0.0087	0.0008	0.0024	0.0062	0	0.0015	0.0123	0.0043	0.0037	8.66e-05	0.0024	0.0024	0.0028	0.0020	0.0038	0.0022	0.0021	0.0034	0.0033	0.0007	0	0.0022	0.0049	0	0.0012	0.0238	0.0038	0.0024	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.072	0.04547	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.769529	0.00013	T	-0.878433	0.00667	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340344	0.07138	3.720	0.79142662762001537	0.12609	0.01044	0.03898	N	AEFDBI	0.043833	0.06979	N	-0.778247067312501	0.13878	0.6869589	-0.984358859284902	0.10136	0.5086194	0.987665197278375	0.31316	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.64	-0.457	0.11578	0.355000	0.19902	-0.066000	0.12360	0.450000	0.21304	0.010000	0.18352	0.000000	0.08366	0.099000	0.18236	0.0:0.5098:0.0:0.4902	3.895	0.08638	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1021.98	38	chr15	101364965	.	C	T	1021.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.96;DP=766;ExcessHet=0.0000;FS=1.925;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=-8.650e-01;SOR=0.951	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1208	20	0	1	0
chr15	101382107	101382107	G	A	exonic	PCSK6	.	nonsynonymous SNV	PCSK6:NM_002570:exon11:c.C1517T:p.S506L	.	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.01	B	0.008	B	0.759	N	1.000	N	1.355	L	-0.09	T	-0.937	T	0.223	T	0.134	-0.970	0.307	1.44	0.077	1.489	8.632	0.031	.	0.0002	0.00319489	0.0022	0.0004	0.0004	0	0	0.0013	0	0.0092	0.0012096	187	154602	rs368822674	0.0009	0.0009	0.0006	0.0011	0.0075	0.0008	0.0008	0.0070	0.0068	0.0002	0.0001	0.0047	2.53e-05	7.545e-05	0.0026	0.0004	0.0012	0.0075	0.0007	0.0007	0.0006	0.0008	0.0112	0.0006	0.0005	0.0088	0.0079	7.215e-05	0	6.534e-05	0.0043	0	0	0	0.0005	0	0.0112	.	.	.	0.615	0.19908	T	0.002	0.15535	B	0.001	0.13708	B	0.758521	0.09642	N	0.888150	1	0.08975	N	1.92	0.51302	L	.	.	.	.	.	.	0.099	0.09914	-0.9373	0.43041	T	0.223	0.58716	T	10	0.0041293204	0.00081	T	.	.	.	0.031	0.07369	.	.	0.357929162469	0.35400	0.3037980816012562	0.30292	.	.	0.369783133268	0.20800	T	0.406137	0.76212	T	-0.52956	0.00386	T	-0.529447	0.19341	T	0.00742694575437744	0.00086	T	0.630137	0.25202	T	0.04557692	0.07485	0.05550379	0.09747	0.04557692	0.07484	0.05550379	0.09746	-3.889	0.33441	T	.	.	0.077	0.09239	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.327746	0.17323	13.10	0.73189510091877341	0.10239	0.11505	0.16678	N	AEFDGBI	0.207814	0.33395	N	-0.975912957793345	0.09120	0.4303329	-0.981011834134197	0.10212	0.5128923	0.999997687273866	0.74766	0.653281	0.48532	0	0.59043	0.45803	0	0.675528	0.61593	0	0.567892	0.33627	0	.	.	5.49	1.44	0.21647	1.487000	0.35149	1.975000	0.30006	-0.105000	0.15698	0.003000	0.16062	0.011000	0.20116	0.126000	0.19410	0.3368:0.0:0.6632:0.0	8.632	0.33090	945	0.12563	P domain;.;P domain;P domain;.;.;P domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2071.98	33	chr15	101382107	.	G	A	2071.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=879;ExcessHet=0.0000;FS=1.930;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=-1.290e-01;SOR=0.876	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,103,1312	20	0	1	0
chr15	101646763	101646763	G	A	exonic	TM2D3	.	nonsynonymous SNV	TM2D3:NM_001307960:exon3:c.C386T:p.P129L	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.0	B	0.001	B	0.880	N	1.000	N	0.55	N	.	.	-1.017	T	0.038	T	0.371	1.506	10.99	-4.12	-0.608	0.207	0.734	0.031	0.00113016116297	0.0004	.	0.0002	0	0.0006	0	0	0.0003	0	0	0.0002135	33	154602	rs139709573	0.0003	0.0003	0.0003	0.0003	0.0083	0.0003	0.0003	0.0064	0.0058	0.0004	0.0006	0.0007	0	1.872e-05	0.0083	0.0003	0.0005	4.637e-05	0.0001	0.0002	0.0002	0.0001	0.0002	9.735e-05	8.251e-05	0.0001	0.0001	2.405e-05	0	6.539e-05	0.0009	0	9.416e-05	0	0.0002	0.0005	0	0.31	0.14017	T	0.724	0.19972	T	0.0	0.02946	B	0.001	0.04355	B	0.879818	0.08763	N	0.948764	1	0.08975	N	-0.895	0.01383	N	.	.	.	0.05	0.12847	N	0.137	0.13626	-1.0169	0.24722	T	0.038	0.16505	T	9	0.015630573	0.00328	T	0.00113	0.01385	T	0.031	0.07369	.	.	0.0138822411134	0.00435	0.5659019188917468	0.56518	0.0687993092162	0.07705	0.293644815683	0.09457	T	0.002657	0.03927	T	-0.400861	0.02286	T	-0.438941	0.28927	T	0.00718670353984541	0.00082	T	0.585041	0.42019	T	0.02861067	0.02224	0.02065355	0.00148	0.02861067	0.02224	0.02065355	0.00148	-1.79	0.02479	T	.	.	0.056	0.00593	B	.;.;.;.;.	.;.;.;.;.	0.206554	0.05907	2.346	0.85423225641149814	0.15884	0.09262	0.15053	N	AEFDBI	0.086801	0.17599	N	-1.21108429680945	0.04837	0.2191915	-1.20929502900052	0.05759	0.2753436	0.99999990741263	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.72	-4.12	0.03650	0.229000	0.17614	-2.482000	0.03700	-0.185000	0.09859	0.000000	0.06391	0.000000	0.08366	0.905000	0.44082	0.3766:0.2599:0.1584:0.2051	0.734	0.00900	940	0.13648	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2809.98	33	chr15	101646763	.	G	A	2809.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.96;DP=919;ExcessHet=0.0000;FS=1.012;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=-1.540e+00;SOR=0.619	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr15	101714943	101714943	G	A	exonic	TARS3	.	nonsynonymous SNV	TARS3:NM_152334:exon4:c.C587T:p.T196M,	.	.	438	1064	20	0	0	20	0.00931099	.	.	2814541	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.22	T	0.993	D	0.87	P	0.030	N	1.000	N	2.485	M	3.3	T	-1.078	T	0.045	T	0.297	3.249	16.89	4.04	0.838	4.395	7.740	0.166	.	0.0008	0.00299521	0.0025	0.0002	0.0004	0.0001	0.0015	0.0022	0.0022	0.0083	0.0021733	336	154602	rs148053074	0.0013	0.0014	0.0011	0.0016	0.0084	0.0013	0.0013	0.0079	0.0077	9.007e-05	0.0004	0.0016	7.582e-05	0.0017	0.0042	0.0009	0.0012	0.0084	0.0012	0.0012	0.0011	0.0012	0.0096	0.0010	0.0010	0.0074	0.0066	0.0001	0	0.0005	0.0017	0	0.0010	0.0068	0.0015	0.0014	0.0096	0.048	0.40068	D	0.061	0.47828	T	0.993	0.65571	D	0.87	0.61806	P	0.030279	0.25333	N	0.447102	1	0.08975	N	2.865	0.83145	M	3.3	0.06368	T	-2.61	0.56144	D	0.406	0.44666	-1.0778	0.07781	T	0.045	0.19275	T	10	0.012551904	0.00269	T	.	.	.	0.166	0.42578	.	.	0.654922819804	0.65204	0.5467780833325507	0.54603	0.0724840226661	0.08123	0.326777070761	0.14447	T	0.217899	0.58046	T	-0.492028	0.00633	T	-0.474835	0.24996	T	0.0373221893362915	0.03212	T	0.89841	0.64469	D	0.04345764	0.06775	0.09358877	0.22112	0.04345764	0.06775	0.09358877	0.22111	-8.601	0.65096	D	.	.	0.089	0.15520	B	.;.	.;.	4.152054	0.62284	24.4	0.99813512828511386	0.89708	0.79288	0.39261	D	AEFBI	0.261060	0.37908	N	0.369595672332471	0.59780	4.160503	0.270398489671687	0.53818	3.549044	0.637549102613351	0.22023	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.9	4.04	0.46262	3.995000	0.56715	5.681000	0.49295	0.654000	0.53741	0.881000	0.31008	0.991000	0.31484	0.991000	0.66497	0.2489:0.0:0.7511:0.0	7.740	0.28000	702	0.57624	TGS;TGS	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1432.98	33	chr15	101714943	.	G	A	1432.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.870e-01;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=0.872;SOR=0.715	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr15	101805780	101805780	C	T	exonic	OR4F6	.	nonsynonymous SNV	OR4F6:NM_001005326:exon1:c.C61T:p.R21W,	.	.	.	.	.	.	.	.	.	.	.	2716439	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.001	B	0.0	B	0.009	N	1.000	N	-0.09	N	9.32	T	-0.948	T	0.000	T	0.263	-2.731	0	0.821	0.019	-0.331	2.779	0.035	0.00067276817553	.	.	5.772e-05	0	0.0003	0	0	4.501e-05	0	6.075e-05	4.53e-05	7	154602	rs769055061	4.72e-05	4.788e-05	5.717e-05	3.713e-05	0.0002	3.794e-05	3.476e-05	0.0001	9.193e-05	5.974e-05	0.0002	0	0	1.872e-05	0.0002	4.407e-05	0	6.956e-05	5.254e-05	5.25e-05	7.71e-05	2.687e-05	0.0004	2.556e-05	1.829e-05	7.296e-05	3.031e-05	2.407e-05	0	6.535e-05	0	0	0	0	5.882e-05	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.0	0.01387	B	0.009242	0.30447	N	0.157021	1	0.08975	N	0.23	0.09627	N	9.32	0.00010	T	7.84	0.00002	N	0.152	0.15609	-0.9477	0.41364	T	0.000	0.00039	T	10	0.020404547	0.00470	T	6.73E-4	0.00383	T	0.035	0.08770	.	.	0.248417906384	0.24464	0.16251423615115232	0.16171	0.0131259181495	0.01263	0.231544956565	0.02084	T	0.00751	0.06912	T	-0.508559	0.00511	T	-0.670727	0.07562	T	0.0214448994595937	0.00847	T	0.19798	0.02209	T	0.06197243	0.12894	0.029969422	0.01396	0.06197243	0.12894	0.029969422	0.01396	-4.458	0.30335	T	.	.	0.056	0.00461	B	.	.	0.117961	0.05162	1.680	0.54315182677749918	0.05113	0.00584	0.02629	N	AEFDBHI	0.035979	0.04719	N	-1.44836422549175	0.02230	0.09823166	-1.40841708587119	0.03167	0.1472088	1.26078161008509E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.68	0.821	0.17938	-0.862000	0.04371	-0.199000	0.10963	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.084000	0.17470	0.3219:0.1803:0.0:0.4977	2.779	0.05027	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	985.98	37	chr15	101805780	.	C	T	985.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.079e+00;DP=803;ExcessHet=0.0000;FS=1.570;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.30;ReadPosRankSum=0.261;SOR=0.534	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1187	20	0	1	0
chr15	101818615	101818615	C	G	exonic	OR4F15	.	stopgain	OR4F15:NM_001001674:exon1:c.C429G:p.Y143X,	.	.	441	1074	6	1	0	8	0.00371058	.	.	1038307	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.664	N	1.000	D	.	.	.	.	.	.	.	.	.	0.523	6.835	-4.15	-0.325	-2.417	0.646	.	.	0.0035	0.00199681	0.0025	0.0010	0.0008	0	0.0014	0.0036	0	0.0022	0.0026132	404	154602	rs141388760	0.0042	0.0042	0.0043	0.0040	0.0050	0.0041	0.0041	0.0049	0.0049	0.0006	0.0011	7.652e-05	0	0.0011	0.0023	0.0050	0.0033	0.0018	0.0026	0.0026	0.0029	0.0022	0.0046	0.0023	0.0023	0.0042	0.0040	0.0009	0	0.0012	0	0.0002	0.0012	0	0.0046	0.0005	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	0.664011	0.05996	N	1.176380	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.003	0.00016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.295824	0.09058	T	-0.196203	0.55006	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant|Recessive	High|High	4.301668	0.65684	24.9	0.97868569606668721	0.36513	0.02028	0.06083	N	AEFGI	0.029728	0.02859	N	-0.189757102578507	0.33559	1.905341	-0.605039151717948	0.19362	1.038546	5.30149568422699E-4	0.07225	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.57	-4.15	0.03617	-2.626000	0.00948	-20.000000	0.00162	-0.187000	0.09635	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.2122:0.1714:0.3:0.3165	0.646	0.00766	819	0.41190	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3159.98	33	chr15	101818615	.	C	G	3159.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=8.000e-03;DP=950;ExcessHet=0.0000;FS=1.491;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.25;ReadPosRankSum=1.03;SOR=0.796	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1215	20	0	1	0
chr16	58642	58642	G	T	exonic	RHBDF1	.	nonsynonymous SNV	RHBDF1:NM_022450:exon18:c.C2266A:p.L756I,	.	.	91	1411	18	2	0	22	0.00773558	.	.	2814548	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.011	B	0.02	B	0.000	D	1.000	D	0.75	N	2.68	T	-1.067	T	0.027	T	0.241	2.249	13.48	5.16	2.559	6.379	13.026	0.058	0.00460238206405	0.0007	0.000399361	0.0014	0.0003	0.0002	0.0001	0.0002	0.0007	0.0034	0.0065	0.0011643	180	154602	rs148360562	0.0009	0.0009	0.0007	0.0011	0.0060	0.0008	0.0008	0.0056	0.0054	8.962e-05	0.0003	0.0020	2.519e-05	0.0004	0.0038	0.0005	0.0016	0.0060	0.0007	0.0007	0.0006	0.0009	0.0052	0.0006	0.0006	0.0036	0.0031	0.0002	0	0.0006	0.0012	0	9.409e-05	0.0034	0.0008	0.0009	0.0052	0.091	0.31834	T	0.263	0.22828	T	0.011	0.15914	B	0.02	0.19048	B	0.000003	0.62929	D	0.062992	0.999999	0.58761	D	0.43	0.12624	N	2.68	0.12371	T	-0.97	0.25770	N	0.345	0.38643	-1.0669	0.10108	T	0.027	0.11529	T	10	0.009865195	0.00221	T	0.004602	0.11377	T	0.058	0.16647	.	.	0.389904358541	0.38601	0.6715495082597701	0.67092	0.397191797738	0.40813	0.770371556282	0.77480	T	0.026472	0.19585	T	-0.516724	0.00460	T	-0.512681	0.21039	T	0.0145079439173998	0.00295	T	0.845015	0.52334	T	0.23936243	0.46826	0.17322394	0.39634	0.23936243	0.46826	0.17322394	0.39633	-6.854	0.52959	T	.	.	0.076	0.06159	B	.	.	3.225608	0.43964	21.8	0.97881698092466374	0.36607	0.94049	0.59959	D	AEFGBCI	0.807296	0.73137	D	0.0245131169388764	0.42970	2.599375	0.226688554953826	0.51335	3.316789	0.999999412838948	0.74766	0.67177	0.52595	0	0.379588	0.06130	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.16	5.16	0.70563	6.495000	0.73573	9.886000	0.82236	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.839:0.161	13.026	0.58221	.	.	Peptidase S54, rhomboid domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1228.98	40	chr16	58642	.	G	T	1228.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.498e+00;DP=865;ExcessHet=0.0000;FS=2.868;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=0.833;SOR=1.029	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	20	0	1	0
chr16	62869	62869	C	T	exonic	RHBDF1	.	nonsynonymous SNV	RHBDF1:NM_022450:exon6:c.G701A:p.R234H,	.	.	424	1096	2	0	0	2	0.000911577	.	.	706467	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.18	T	0.518	P	0.056	B	0.000	D	1.000	D	0.49	N	-0.19	T	-0.912	T	0.126	T	0.463	1.694	11.63	4.65	2.406	3.278	16.710	0.119	.	.	0.000199681	0.0013	9.681e-05	0.0136	0	0	0	0.0011	0	0.0010349	160	154602	rs184104773	0.0003	0.0003	0.0003	0.0003	0.0089	0.0003	0.0003	0.0082	0.0079	0.0001	0.0089	0	0	0	0.0002	3.597e-06	0.0001	9.275e-05	0.0002	0.0002	0.0001	0.0002	0.0014	0.0001	9.23e-05	0.0009	0.0008	4.81e-05	0	0.0014	0	0	0	0	0	0	0.0002	0.153	0.24372	T	0.166	0.30828	T	0.072	0.23997	B	0.056	0.26147	B	0.000303	0.45977	D	0.182236	0.999935	0.51612	D	1.2	0.30300	L	-0.19	0.65931	T	-0.91	0.24460	N	0.552	0.57775	-0.9121	0.46594	T	0.126	0.43091	T	10	0.008246601	0.00187	T	.	.	.	0.119	0.33137	.	.	0.738794379584	0.73645	0.2744729942164685	0.27360	0.185548957451	0.20862	0.44410648942	0.31138	T	0.016773	0.13800	T	-0.355539	0.04389	T	-0.275522	0.47261	T	0.0230304805617499	0.01027	T	0.929907	0.74113	D	0.061115008	0.12618	0.058359463	0.10769	0.061115008	0.12617	0.058359463	0.10769	-6.002	0.46296	T	.	.	0.081	0.08176	B	.	.	4.031523	0.59621	24.1	0.96875540639601243	0.31438	0.97318	0.73996	D	AEFBI	0.609007	0.59837	D	-0.272002522540461	0.30233	1.68389	-0.159634140509506	0.33040	1.88579	0.999999869154397	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.65	4.65	0.57626	2.787000	0.47487	4.796000	0.44934	0.596000	0.33519	0.998000	0.41325	1.000000	0.68203	0.713000	0.34548	0.0:1.0:0.0:0.0	16.710	0.85240	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1891.98	35	chr16	62869	.	C	T	1891.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=920;ExcessHet=0.0000;FS=0.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=-2.730e-01;SOR=0.622	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr16	176927	176927	A	G	splicing	HBA1	NM_000558:exon2:c.96-2A>G	.	.	Erythremias, alpha- (3);Heinz body anemias, alpha-, Autosomal dominant;Hemoglobin H disease, nondeletional;Methemoglobinemias, alpha- (3);Thalassemias, alpha-	YES	.	.	.	.	.	.	.	0.9999	0.894	3081354	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.925	12.40	3.33	0.636	6.527	9.342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1298836193	5.545e-06	1.541e-05	4.555e-06	6.484e-06	0.0003	1.62e-06	1.18e-06	1.48e-06	1e-06	0	0	0	0	0	0.0003	6.317e-06	0	0	1.356e-05	2.643e-05	0	2.786e-05	2.532e-05	2.25e-06	8.4e-07	.	.	2.532e-05	0	0	0	0	0	0	1.494e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0205757	0.48770	T	-0.267332	0.48089	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.081505	0.94516	34	0.74603171795610534	0.10757	0.96569	0.69797	D	AEFDGBHCI	.	.	.	0.706611257523252	0.80067	7.212597	0.440658059572336	0.64120	4.659919	0.999999812694705	0.74766	0.080785	0.02172	0	0.096583	0.02683	0	0.056003	0.00319	0	0.058706	0.01089	0	0.804152	0.47649	4.45	3.33	0.37245	6.424000	0.73282	7.903000	0.73657	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.629000	0.32131	0.8191:0.1809:0.0:0.0	9.342	0.37247	809	0.43032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	468.98	41	chr16	176927	.	A	G	468.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.084e+00;DP=565;ExcessHet=0.0000;FS=6.514;InbreedingCoeff=-0.0248;MLEAC=1;MLEAF=0.024;MQ=30.85;MQRankSum=1.50;QD=10.91;ReadPosRankSum=-1.493e+00;SOR=1.156	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1402	20	0	1	0
chr16	180511	180511	G	T	exonic	HBQ1	.	nonsynonymous SNV	HBQ1:NM_005331:exon1:c.G25T:p.A9S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.026	B	0.078	B	0.752	U	1.000	N	0.495	N	-3.22	D	-0.387	T	0.599	D	0.095	1.815	12.03	1.86	0.499	1.802	7.314	0.176	0.333311717718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.252e-07	3.42e-06	0	1.47e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.12878	T	0.483	0.11795	T	0.026	0.19406	B	0.078	0.28627	B	0.751582	0.06488	U	1.143940	1	0.08975	N	1.505	0.38159	L	-3.22	0.93352	D	-0.64	0.18670	N	0.045	0.01740	-0.3870	0.72436	T	0.599	0.85731	D	10	0.18751019	0.34264	T	0.333312	0.91813	D	0.176	0.44373	0.572	0.69564	0.780641916088	0.77862	0.0965153003216115	0.09583	0.69460362791	0.60773	0.782942056656	0.79372	T	0.070703	0.34025	T	-0.0552241	0.43650	T	-0.317102	0.42892	T	0.119933694601059	0.14423	T	0.537446	0.18074	T	0.13701132	0.31741	0.09909079	0.23647	0.13701132	0.31741	0.09909079	0.23646	-3.781	0.20521	T	.	.	0.090	0.12560	B	.	.	1.968235	0.25002	16.60	0.88337671163332887	0.17898	0.31888	0.24450	N	ALL	0.098489	0.19845	N	-0.93358322928162	0.10064	0.4791643	-0.957410311459958	0.10751	0.5435174	0.999999999969038	0.74766	0.652421	0.48094	0	0.858003	0.99906	0	0.64067	0.45733	0	0.618803	0.45993	0	.	.	2.84	1.86	0.24489	0.966000	0.28929	1.623000	0.27698	0.649000	0.52879	0.001000	0.13787	0.005000	0.19230	0.061000	0.16044	0.1414:0.0:0.8586:0.0	7.314	0.25665	809	0.43032	Globin|Globin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	608.98	39	chr16	180511	.	G	T	608.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.110e-01;DP=732;ExcessHet=0.0000;FS=4.389;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=-7.760e-01;SOR=0.255	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,929	20	0	1	0
chr16	189983	189983	C	G	exonic	LUC7L	.	nonsynonymous SNV	LUC7L:NM_001320226:exon9:c.G959C:p.R320P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.335	B	0.105	B	0.000	D	1.000	D	2.14	M	2.94	T	-0.861	T	0.164	T	0.551	2.806	15.34	3.11	0.508	2.998	13.021	0.117	0.030104165929	.	.	8.335e-06	0	0	0	0	0	0	6.343e-05	6.5e-06	1	154602	rs780398781	6.848e-07	6.84e-07	0	1.377e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.79402	D	0.335	0.33330	B	0.105	0.31087	B	0.000013	0.62929	D	0.106561	0.999843	0.49770	D	2.015	0.55033	M	0.65	0.54347	T	-2.47	0.67589	N	0.544	0.65844	-0.8610	0.51191	T	0.164	0.50045	T	10	0.21879813	0.38531	T	0.030104	0.52487	D	0.117	0.32689	0.231	0.15855	0.737490428759	0.73514	0.22071708640825613	0.21986	0.817525153151	0.67007	0.408349990845	0.26229	T	0.393155	0.75264	T	-0.0780396	0.40032	T	-0.249245	0.49890	T	0.687424626906566	0.40129	D	0.868313	0.67748	D	0.50523984	0.67401	0.6581045	0.79976	0.50523984	0.67402	0.6581045	0.79976	-6.423	0.49688	T	.	.	0.159	0.51014	B	.;.;.;.;.	.;.;.;.;.	4.196899	0.63305	24.6	0.98996803961350044	0.50065	0.97839	0.77515	D	AEFGBI	0.726737	0.67531	D	0.0192279492437213	0.42730	2.580107	0.0859468808292768	0.43841	2.677548	0.995695526595822	0.34271	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.15	3.11	0.34883	3.173000	0.50540	1.767000	0.28601	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2941:0.7059:0.0:0.0	13.021	0.58190	825	0.40060	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	658.98	34	chr16	189983	.	C	G	658.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=749;ExcessHet=0.0000;FS=0.994;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.98;ReadPosRankSum=1.03;SOR=0.619	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1288	20	0	1	0
chr16	190022	190022	C	T	exonic	LUC7L	.	nonsynonymous SNV	LUC7L:NM_001320226:exon9:c.G920A:p.R307Q	.	.	439	1078	5	0	0	5	0.00231374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.003	B	0.001	B	0.000	D	0.999	D	2.395	M	2.7	T	-0.888	T	0.173	T	0.216	3.641	18.52	4.2	1.169	5.035	12.609	0.104	.	.	0.000399361	0.0005	0	0.0002	0	0	0.0001	0.0156	0.0026	0.0004398	68	154602	rs561704484	0.0003	0.0003	0.0002	0.0005	0.0032	0.0003	0.0003	0.0029	0.0028	0	0.0002	0	0	5.623e-05	0.0003	0.0002	0.0004	0.0032	8.54e-05	8.531e-05	6.428e-05	0.0001	0.0015	4.956e-05	3.962e-05	0.0007	0.0005	2.407e-05	0	0	0	0.0002	0	0	1.471e-05	0.0014	0.0015	0.035	0.47745	D	0.054	0.63918	T	0.003	0.11197	B	0.001	0.04355	B	0.000155	0.49130	D	0.205916	0.999149	0.46174	D	2.16	0.60381	M	0.86	0.54347	T	-1.67	0.39887	N	0.502	0.53445	-0.8884	0.49071	T	0.173	0.51516	T	10	0.012109995	0.00262	T	.	.	.	0.104	0.29647	.	.	0.610288044756	0.60715	0.2878297271079481	0.28695	0.650987366695	0.58360	0.596105992794	0.52355	T	0.241057	0.60951	T	-0.458102	0.01010	T	-0.433545	0.29534	T	0.0582932331170721	0.06897	T	0.916808	0.70203	D	0.14756504	0.33729	0.101090446	0.24192	0.14756504	0.33728	0.101090446	0.24191	-7.95	0.63102	D	.	.	0.160	0.48188	B	.;.;.;.;.	.;.;.;.;.	4.080198	0.60688	24.2	0.99765081203213823	0.85417	0.99073	0.90830	D	AEFGBI	0.664310	0.63352	D	-0.00911072999460116	0.41443	2.478901	0.112600298516429	0.45193	2.786761	0.99999641162893	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.15	4.2	0.48814	5.312000	0.65579	4.757000	0.44693	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.9197:0.0:0.0803	12.609	0.55899	830	0.39242	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1091.98	34	chr16	190022	.	C	T	1091.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.500e-02;DP=790;ExcessHet=0.0000;FS=0.774;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.74;ReadPosRankSum=-3.500e-02;SOR=0.743	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1288	20	0	1	0
chr16	259525	259525	G	A	exonic	FAM234A	.	nonsynonymous SNV	FAM234A:NM_001284497:exon4:c.G311A:p.R104K	.	.	427	1070	25	0	0	25	0.0115473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.076	N	0.998	N	0.3	N	0.56	T	-0.997	T	0.040	T	0.166	-0.338	2.399	-2.97	-0.200	0.092	7.535	0.016	0.00672025547804	0.0026	0.00299521	0.0038	0.0002	0.0015	0	0.0032	0.0042	0.0056	0.0078	0.0035446	548	154602	rs111339986	0.0034	0.0034	0.0030	0.0037	0.0081	0.0033	0.0032	0.0076	0.0074	0.0004	0.0014	0.0107	0	0.0021	0.0057	0.0031	0.0044	0.0081	0.0026	0.0026	0.0023	0.0028	0.0079	0.0024	0.0023	0.0059	0.0052	0.0006	0	0.0011	0.0124	0	0.0026	0.0034	0.0034	0.0033	0.0079	1.0	0.00964	T	1.0	0.02632	T	0.001	0.07471	B	0.001	0.04355	B	0.076338	0.21169	N	0.529473	0.998031	0.22385	N	.	.	.	0.56	0.54540	T	0.42	0.03352	N	0.136	0.13484	-0.9974	0.30646	T	0.040	0.17319	T	10	0.0065513253	0.00148	T	0.00672	0.17756	T	0.032	0.07718	.	.	0.190952846119	0.18690	0.6941718200402318	0.69358	0.132247561378	0.14905	0.259903490543	0.04880	T	0.028335	0.20549	T	-0.539553	0.00337	T	-0.541268	0.18172	T	0.00414213613300951	0.00044	T	0.547145	0.25265	T	0.022811828	0.00971	0.03151409	0.01751	0.022811828	0.00970	0.03151409	0.01751	-2.508	0.05836	T	.	.	0.08	0.11989	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.325254	0.06995	3.551	0.81296480262568094	0.13615	0.39395	0.26203	N	AEFDGBHCI	0.075816	0.15237	N	-1.03158616031932	0.07953	0.3712729	-0.909742077689428	0.11864	0.6070143	0.999992181554563	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.35	-2.97	0.05195	0.152000	0.16120	-0.222000	0.10754	-0.106000	0.15538	0.986000	0.36153	0.026000	0.21063	0.773000	0.36634	0.6193:0.133:0.2477:0.0	7.535	0.26873	754	0.51307	.;.;.;.;.;.;.;.	.	.	.	.	rs111339986	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1011.98	33	chr16	259525	.	G	A	1011.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.007e+00;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=-1.174e+00;SOR=0.627	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1253	20	0	1	0
chr16	275869	275974	GCGCCCGGGGGCGGCCGGGGGGCGGCGCGGGGCCGGCGGCCATGGCTGCGGGGCGAGGCCGGCGGGGATGACCGACGTCCCGCCCGGCCCCGCCCCGCGCCGCGCC	-	exonic	RGS11	.	startloss	RGS11:NM_001286485:exon1:c.1_43del:p.M1?	.	.	551	968	3	0	0	3	0.00154719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0006	0.0001	0.0001	0.0006	0.0001	0.0001	0.0003	0.0002	0	0.0003	0.0002	0.0006	0.0016	0	0.0001	0.0001	0.0001	0	6.614e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	59.03	8	chr16	275868	.	TGCGCCCGGGGGCGGCCGGGGGGCGGCGCGGGGCCGGCGGCCATGGCTGCGGGGCGAGGCCGGCGGGGATGACCGACGTCCCGCCCGGCCCCGCCCCGCGCCGCGCC	T	59.03	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.65;DP=180;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0477;MLEAC=1;MLEAF=0.026;MQ=60.00;MQRankSum=0.00;QD=9.84;ReadPosRankSum=1.04;SOR=0.693	GT:AD:DP:GQ:PL	0/0:10,0:10:24:0,24,360	18	0	1	2
chr16	284531	284531	C	T	exonic	PDIA2	.	nonsynonymous SNV	PDIA2:NM_006849:exon2:c.C344T:p.T115M,	.	.	414	1104	4	0	0	4	0.00180832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.847	P	0.75	P	0.632	N	1.000	N	1.065	L	3.92	T	-0.964	T	0.016	T	0.371	1.376	10.53	1.96	0.710	0.219	2.943	0.004	.	0.0030	0.00139776	0.0047	0.0006	0.0007	0.0001	0.0222	0.0059	0.0014	0.0019	0.0038292	592	154602	rs182349041	0.0047	0.0047	0.0047	0.0046	0.0048	0.0046	0.0045	0.0046	0.0046	0.0003	0.0007	0.0041	0.0002	0.0174	0.0023	0.0048	0.0043	0.0021	0.0043	0.0043	0.0040	0.0045	0.0058	0.0040	0.0039	0.0053	0.0051	0.0006	0	0.0013	0.0040	0.0004	0.0174	0	0.0058	0.0019	0.0017	0.006	0.61437	D	0.022	0.57587	D	0.847	0.46818	P	0.75	0.56031	P	0.631836	0.10680	N	0.816579	1	0.08975	N	0.965	0.23975	L	3.92	0.03462	T	-0.83	0.23590	N	0.48	0.51494	-0.9638	0.38448	T	0.016	0.06616	T	10	0.012411565	0.00267	T	.	.	.	0.086	0.25016	.	.	0.587058026133	0.58379	0.5243186002635831	0.52355	.	.	0.4394723773	0.30505	T	0.010785	0.09704	T	-0.522425	0.00426	T	-0.515242	0.20779	T	0.0429149134614305	0.04221	T	0.956904	0.83579	D	0.102028966	0.24104	0.119134404	0.28756	0.102028966	0.24104	0.119134404	0.28756	-8.824	0.66557	D	.	.	0.081	0.16054	B	.;.	.;.	1.979234	0.25141	16.66	0.99613626223670504	0.74992	0.11231	0.16496	N	AEFDBI	0.245371	0.36632	N	-0.346092156969214	0.27417	1.504001	-0.515101256597283	0.21743	1.177671	0.0583153876349015	0.15123	0.700653	0.57754	0	0.550933	0.16991	0	0.717052	0.78885	0	0.604944	0.38103	0	.	.	4.14	1.96	0.25203	0.354000	0.19885	1.643000	0.27803	0.517000	0.23534	0.000000	0.06391	0.911000	0.28135	0.034000	0.13613	0.1799:0.5367:0.176:0.1073	2.943	0.05479	753	0.51500	Thioredoxin domain|Thioredoxin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1470.98	34	chr16	284531	.	C	T	1470.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=843;ExcessHet=0.0000;FS=3.143;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.82;ReadPosRankSum=-2.400e-02;SOR=0.469	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1496	20	0	1	0
chr16	285639	285639	G	T	exonic	PDIA2	.	nonsynonymous SNV	PDIA2:NM_006849:exon7:c.G1055T:p.G352V,	.	.	428	1075	16	3	0	22	0.0101289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.003	B	0.012	B	0.520	N	1.000	N	1.265	L	1.57	T	-1.019	T	0.033	T	0.034	0.794	8.183	-0.402	0.054	-0.817	1.481	0.008	.	0.0083	0.00419329	0.0072	0.0015	0.0079	0	0.0018	0.0097	0.0068	0.0064	0.0002305	6	26028	rs45503792	0.0098	0.0098	0.0100	0.0097	0.0225	0.0097	0.0096	0.0194	0.0182	0.0016	0.0065	0.0176	2.519e-05	0.0020	0.0225	0.0109	0.0099	0.0067	0.0067	0.0067	0.0071	0.0063	0.0102	0.0064	0.0063	0.0096	0.0094	0.0016	0	0.0088	0.0164	0	0.0013	0.0204	0.0102	0.0100	0.0064	0.181	0.22312	T	0.206	0.27056	T	0.003	0.11197	B	0.012	0.16012	B	0.520003	0.11752	N	0.740642	0.999987	0.18198	N	0.69	0.16971	N	1.57	0.29342	T	-1.08	0.32185	N	0.276	0.34012	-1.0187	0.24139	T	0.033	0.14290	T	10	0.0054662824	0.00121	T	.	.	.	0.008	0.00669	.	.	0.443592365053	0.43979	0.6415922339958753	0.64094	.	.	0.279388546944	0.07407	T	0.010246	0.09270	T	-0.707104	0.00033	T	-0.780521	0.02437	T	0.000488358014770727	0.00004	T	0.351165	0.07832	T	0.0505334	0.09144	0.048384853	0.07176	0.0505334	0.09144	0.048384853	0.07175	-5.638	0.43138	T	.	.	0.109	0.20972	B	.;.	.;.	0.361561	0.07345	3.959	0.63484829541354748	0.07236	0.11698	0.16804	N	AEFDBHCI	0.219139	0.34406	N	-1.166551311178	0.05513	0.2515177	-1.23007797063242	0.05432	0.2588389	4.43596185538615E-4	0.07004	0.646311	0.45356	0	0.524598	0.11158	1	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.13	-0.402	0.11786	-0.132000	0.10446	-0.102000	0.11930	-0.812000	0.03057	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2689:0.1372:0.4446:0.1492	1.481	0.02290	758	0.50837	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1289.98	48	chr16	285639	.	G	T	1289.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.700e-02;DP=936;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.16;ReadPosRankSum=-4.360e-01;SOR=0.740	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1496	20	0	1	0
chr16	286691	286691	G	A	exonic	PDIA2	.	nonsynonymous SNV	PDIA2:NM_006849:exon9:c.G1378A:p.G460S,	.	.	419	1088	14	1	0	16	0.00729927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.036	B	0.035	B	0.000	N	0.801	N	0.525	N	3.9	T	-0.959	T	0.018	T	0.164	-2.080	0.006	1.21	-0.136	0.694	10.267	0.084	0.0383303803874	0.0022	0.00219649	0.0025	0.0002	0.0042	0.0001	0	0.0031	0.0046	0.0020	0.0023868	369	154602	rs113159258	0.0028	0.0028	0.0028	0.0028	0.0095	0.0027	0.0027	0.0075	0.0068	0.0004	0.0037	0.0173	0.0005	9.587e-05	0.0095	0.0027	0.0039	0.0015	0.0022	0.0022	0.0023	0.0021	0.0026	0.0020	0.0019	0.0023	0.0021	0.0009	0	0.0024	0.0193	0.0004	0	0.0034	0.0026	0.0038	0.0017	1.0	0.02338	T	1.0	0.15939	T	0.036	0.20732	B	0.035	0.22741	B	0.000111	0.50451	N	0.132033	0.801241	0.29112	N	0.595	0.15482	N	2.1	0.19990	T	0.64	0.02368	N	0.284	0.32148	-0.9592	0.39330	T	0.018	0.07565	T	10	0.015334785	0.00322	T	0.03833	0.58156	D	0.084	0.24469	.	.	0.183819452728	0.17975	0.7156520723905825	0.71508	.	.	0.306856572628	0.11431	T	0.018431	0.14860	T	-0.586981	0.00175	T	-0.617407	0.11389	T	0.000101227000413928	0.00001	T	0.661834	0.31558	T	0.031681966	0.03051	0.059995644	0.11353	0.031681966	0.03051	0.059995644	0.11353	-4.031	0.27811	T	.	.	0.098	0.47578	B	.;.;.	.;.;.	0.940317	0.13162	9.661	0.77956233680537812	0.12094	0.33354	0.24808	N	AEFDGBCI	0.286743	0.39905	N	-1.39456267348947	0.02689	0.119077	-1.34582563010309	0.03855	0.1806923	0.00228291425139696	0.09294	0.646311	0.45356	0	0.550933	0.16991	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.35	1.21	0.20240	0.717000	0.25523	0.824000	0.21882	-1.676000	0.00793	0.433000	0.26432	0.189000	0.23482	0.015000	0.10482	0.3163:0.0:0.6837:0.0	10.267	0.42637	763	0.50172	Thioredoxin domain|Thioredoxin domain;.;Thioredoxin domain|Thioredoxin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	619.98	40	chr16	286691	.	G	A	619.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.375;DP=964;ExcessHet=0.0000;FS=1.870;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.05;ReadPosRankSum=1.29;SOR=0.977	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	20	0	1	0
chr16	286854	286854	C	G	exonic	PDIA2	.	nonsynonymous SNV	PDIA2:NM_006849:exon10:c.C1442G:p.T481S,	.	.	421	1072	29	0	0	29	0.0133456	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.001	B	0.012	B	0.645	N	0.998	N	-0.62	N	4.01	T	-0.941	T	0.004	T	0.191	1.702	11.65	4.07	2.124	0.633	9.243	0.077	.	0.0037	0.00259585	0.0049	0.0014	0.0019	0	0.0012	0.0050	0.0041	0.0117	0.0039909	617	154602	rs138762531	0.0045	0.0045	0.0042	0.0048	0.0119	0.0044	0.0044	0.0113	0.0110	0.0005	0.0021	0.0328	5.047e-05	0.0005	0.0098	0.0037	0.0066	0.0119	0.0034	0.0034	0.0034	0.0033	0.0104	0.0031	0.0030	0.0081	0.0073	0.0010	0	0.0029	0.0317	0	0.0004	0.0034	0.0039	0.0009	0.0104	0.065	0.36709	T	0.277	0.21880	T	0.001	0.07471	B	0.012	0.16012	B	0.645418	0.10561	N	0.833225	0.997602	0.22589	N	-0.43	0.02865	N	4.01	0.03208	T	0.46	0.03579	N	0.089	0.07262	-0.9412	0.42426	T	0.004	0.01435	T	10	0.012854755	0.00275	T	.	.	.	0.077	0.22490	0.392	0.41606	0.383089235449	0.37922	0.30959217549652085	0.30872	.	.	0.267616271973	0.05832	T	0.004476	0.03877	T	-0.612764	0.00122	T	-0.643575	0.09410	T	0.00817482855713373	0.00098	T	0.393561	0.10202	T	0.063889235	0.13500	0.052219626	0.08561	0.063889235	0.13500	0.052219626	0.08560	-4.246	0.27412	T	.	.	0.076	0.15430	B	.;.;.	.;.;.	1.229472	0.16240	12.41	0.97714210444784844	0.35513	0.50369	0.28647	D	AEFDBCI	0.463876	0.51261	N	-0.661108224377643	0.17138	0.8792915	-0.520260123846162	0.21604	1.169461	0.48884570900195	0.20846	0.646311	0.45356	0	0.514364	0.08380	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.07	4.07	0.46726	0.598000	0.23774	0.416000	0.18166	-0.188000	0.09543	0.000000	0.06391	0.000000	0.08366	0.218000	0.22407	0.3435:0.6565:0.0:0.0	9.243	0.36672	763	0.50172	Thioredoxin domain|Thioredoxin domain;.;Thioredoxin domain|Thioredoxin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	821.98	40	chr16	286854	.	C	G	821.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.917;DP=914;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=0.884;SOR=0.830	GT:AD:DP:GQ:PL	0/1:35,29:64:99:836,0,1019	20	0	1	0
chr16	298021	298021	G	C	exonic	AXIN1	.	nonsynonymous SNV	AXIN1:NM_003502:exon6:c.C1485G:p.D495E	Hepatocellular carcinoma, somatic	.	0	1509	12	1	0	14	0.00461741	.	.	726568	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.77	T	0.101	B	0.09	B	0.000	D	0.626	N	0.11	N	0.21	T	-1.002	T	0.060	T	0.093	0.312	5.690	3.79	1.229	1.208	7.571	0.034	.	0.0056	0.00259585	0.0099	0.0021	0.0033	0	0.0068	0.0149	0.008	0.0064	0.005996	927	154602	rs146947903	0.0079	0.0079	0.0080	0.0077	0.0091	0.0078	0.0077	0.0089	0.0088	0.0015	0.0031	7.722e-05	0	0.0079	0.0059	0.0091	0.0062	0.0048	0.0050	0.0050	0.0052	0.0048	0.0085	0.0047	0.0046	0.0080	0.0077	0.0014	0	0.0029	0	0	0.0057	0.0068	0.0085	0.0028	0.0027	0.379	0.12345	T	0.307	0.20422	T	0.101	0.25775	B	0.09	0.29851	B	0.000066	0.52346	D	0.195282	0.626015	0.30739	N	0.2	0.09183	N	0.2	0.60111	T	-0.78	0.21644	N	0.027	0.01274	-1.0025	0.29197	T	0.060	0.24981	T	10	0.0050819814	0.00110	T	.	.	.	0.034	0.08419	0.393	0.41770	0.367803931526	0.36392	0.23866703767669648	0.23780	0.39378105648	0.40548	0.498790204525	0.38659	T	0.321617	0.69270	T	-0.527729	0.00396	T	-0.521428	0.20149	T	0.00602279739712912	0.00066	T	0.751525	0.38135	T	0.10010132	0.23631	0.056021847	0.09936	0.0985022	0.23233	0.056021847	0.09935	-3.386	0.15232	T	.	.	0.087	0.22061	B	.;.	.;.	1.533152	0.19672	14.38	0.81078998762648069	0.13509	0.64439	0.32408	D	AEFBI	0.174630	0.30177	N	-0.517449353746428	0.21516	1.142406	-0.336869398829417	0.26919	1.490138	0.00146455998578151	0.08559	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.75	3.79	0.42757	1.023000	0.29668	1.466000	0.26718	0.606000	0.46413	1.000000	0.71638	1.000000	0.68203	0.442000	0.27716	0.0882:0.0:0.7378:0.174	7.571	0.27076	784	0.47045	Axin beta-catenin binding;Axin beta-catenin binding	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1173.98	34	chr16	298021	.	G	C	1173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.404;DP=774;ExcessHet=0.0000;FS=7.755;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.45;ReadPosRankSum=-4.580e-01;SOR=0.239	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,111,1355	20	0	1	0
chr16	346382	346382	G	A	exonic	AXIN1	.	nonsynonymous SNV	AXIN1:NM_003502:exon2:c.C644T:p.S215L	Hepatocellular carcinoma, somatic	.	0	1515	7	0	0	7	0.00230491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.009	B	0.004	B	0.002	N	0.826	D	0.41	N	1.99	T	-1.067	T	0.027	T	0.065	1.384	10.56	2.73	2.428	4.424	6.622	0.077	0.00637781895955	7.7e-05	0.000998403	0.0004	0.0003	0.0003	0	0	0.0005	0.0011	0.0008	0.0003752	58	154602	rs200741961	0.0003	0.0003	0.0002	0.0003	0.0007	0.0002	0.0002	0.0006	0.0005	0.0002	0.0005	0	2.519e-05	9.361e-05	0.0003	0.0002	0.0004	0.0007	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0003	0.0001	0	0.0002	0	0	0	0	0.0004	0.0005	0.0004	0.034	0.44694	D	0.075	0.42976	T	0.009	0.15093	B	0.003	0.10090	B	0.001941	0.37596	N	0.252848	0.826303	0.34850	D	0.69	0.16971	N	1.99	0.21666	T	-3.11	0.63669	D	0.101	0.14622	-1.0673	0.10017	T	0.027	0.11574	T	10	0.029723704	0.01099	T	0.006378	0.16783	T	0.077	0.22490	.	.	0.388010793773	0.38412	0.17855641716021825	0.17774	0.299420063141	0.32310	0.428594172001	0.29017	T	0.432804	0.78045	T	-0.529888	0.00385	T	-0.634761	0.10055	T	0.0299107457788782	0.01976	T	0.927907	0.73422	D	0.1398294	0.32286	0.13072373	0.31405	0.1398294	0.32285	0.13072373	0.31404	-8.593	0.65510	D	.	.	0.111	0.22861	B	.;.	.;.	3.881569	0.56424	23.7	0.99022329635021877	0.50613	0.82942	0.42105	D	AEFBCI	0.380846	0.46333	N	-0.156439831711355	0.34960	2.00219	0.0211081264695384	0.40697	2.43291	0.999807652352007	0.43304	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.21	2.73	0.31266	4.450000	0.59781	6.499000	0.55779	0.676000	0.76740	0.851000	0.30461	1.000000	0.68203	0.971000	0.54645	0.1535:0.457:0.3894:0.0	6.622	0.22002	799	0.44747	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	979.98	75	chr16	346382	.	G	A	979.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.870e-01;DP=1488;ExcessHet=0.0000;FS=1.832;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.56;ReadPosRankSum=-1.824e+00;SOR=0.596	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr16	377699	377699	C	G	exonic	PGAP6	.	nonsynonymous SNV	PGAP6:NM_021259:exon2:c.G271C:p.A91P,	.	.	398	1086	36	2	0	40	0.0180832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.001	B	0.002	B	0.197	N	1.000	N	-0.69	N	1.98	T	-0.968	T	0.010	T	0.071	0.102	4.550	-1.31	-0.269	0.367	4.711	0.011	.	0.0069	0.00379393	0.0154	0.0021	0.0153	0	0.0367	0.0191	0.0244	0.0141	0.0073802	1141	154602	rs150713114	0.0095	0.0095	0.0093	0.0097	0.0123	0.0094	0.0093	0.0117	0.0114	0.0012	0.0072	0.0352	0	0.0150	0.0120	0.0090	0.0110	0.0123	0.0074	0.0074	0.0074	0.0074	0.0100	0.0070	0.0069	0.0088	0.0085	0.0018	0	0.0082	0.0311	0	0.0104	0.0136	0.0094	0.0095	0.0100	0.369	0.11586	T	0.294	0.20745	T	0.001	0.07471	B	0.002	0.06944	B	0.197401	0.16688	N	0.566712	1	0.08975	N	-1.295	0.00719	N	1.98	0.21865	T	0.55	0.02721	N	0.085	0.06190	-0.9677	0.37673	T	0.010	0.03537	T	10	0.0029409826	0.00047	T	.	.	.	0.011	0.01250	.	.	0.0401082797425	0.02173	0.3079676341029533	0.30709	0.0497898335359	0.05457	0.269551903009	0.06083	T	0.001898	0.01308	T	-0.677833	0.00049	T	-0.736048	0.04059	T	0.000731414331925939	0.00007	T	0.424058	0.11326	T	0.023681097	0.01129	0.043248724	0.05338	0.023681097	0.01129	0.043248724	0.05338	-2.803	0.08211	T	.	.	0.059	0.00730	B	.	.	-0.578352	0.01631	0.113	0.43658381587674372	0.03302	0.00631	0.02773	N	AEFBI	0.051689	0.09157	N	-2.19746443301535	0.00078	0.003329799	-2.11476963220257	0.00173	0.007615846	0.0894516686923955	0.16085	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.55	-1.31	0.08749	0.711000	0.25436	1.859000	0.29309	-1.969000	0.00470	0.032000	0.20554	0.999000	0.35428	0.000000	0.00833	0.147:0.3094:0.4389:0.1047	4.711	0.12254	798	0.45050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4491.68	104	chr16	377699	.	C	G	4491.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-9.100e-02;DP=2018;ExcessHet=0.3300;FS=2.754;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=0.242;SOR=0.837	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1262	18	0	3	0
chr16	426430	426430	C	G	exonic	RAB11FIP3	.	nonsynonymous SNV	RAB11FIP3:NM_001370401:exon1:c.C424G:p.P142A	.	.	426	1052	44	0	0	44	0.0204842	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.0	B	0.001	B	.	.	1.000	N	0	N	.	.	-1.024	T	0.012	T	0.051	1.094	9.465	-5.25	-1.714	-1.094	4.337	0.006	.	0.0046	0.0131789	0.0127	0.0416	0.0086	0.0115	0	0.0074	0.0042	0.0157	0.0046248	715	154602	rs181591879	0.0044	0.0044	0.0041	0.0046	0.0223	0.0043	0.0042	0.0211	0.0206	0.0181	0.0028	0.0082	0.0223	0.0014	0.0114	0.0027	0.0058	0.0124	0.0084	0.0084	0.0086	0.0082	0.0187	0.0080	0.0079	0.0177	0.0172	0.0187	0.0384	0.0040	0.0101	0.0119	0.0010	0.0274	0.0032	0.0061	0.0112	0.228	0.30097	T	0.242	0.24264	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	-0.71	0.21644	N	0.048	0.01999	-1.0245	0.22246	T	0.012	0.04463	T	8	0.0030046105	0.00049	T	.	.	.	0.006	0.00375	.	.	0.102598925029	0.09809	0.1728067348510978	0.17200	0.989507635279	0.74020	0.423449724913	0.28312	T	0.007064	0.08010	T	-0.707651	0.00033	T	-0.773012	0.02670	T	0.00111585305542652	0.00011	T	.	.	.	0.04552668	0.07468	0.032954417	0.02112	0.04552668	0.07468	0.032954417	0.02112	-3.315	0.13932	T	.	.	0.053	0.00259	B	.;.	.;.	-1.276361	0.00458	0.010	0.58095512191038035	0.05915	0.02685	0.07319	N	AEFDBCIJ	0.036268	0.04805	N	-1.53237510094476	0.01640	0.07173305	-1.61767532201568	0.01551	0.07030326	0.999999086423531	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	2.63	-5.25	0.02567	-3.580000	0.00474	-3.713000	0.02587	-1.310000	0.01236	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3572:0.3646:0.2782	4.337	0.10529	773	0.48803	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	6548.66	142	chr16	426430	.	C	G	6548.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.545e+00;DP=975;ExcessHet=0.0000;FS=1.820;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=21.61;ReadPosRankSum=0.544;SOR=0.563	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1022	19	1	1	0
chr16	547082	547082	G	C	exonic	CAPN15	.	nonsynonymous SNV	CAPN15:NM_005632:exon4:c.G244C:p.V82L,	.	.	404	1115	2	1	0	4	0.00179051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.007	B	0.009	B	0.817	N	1.000	N	0.55	N	-2.32	D	-0.794	T	0.372	T	0.14	0.581	7.137	-4.75	-0.913	-0.031	11.665	0.157	.	0.0007	0.00219649	0.0033	0.0002	0.0005	0.0012	0	0.0026	0.0044	0.0118	0.0017529	271	154602	rs201488864	0.0010	0.0010	0.0009	0.0011	0.0065	0.0010	0.0009	0.0060	0.0059	0.0001	0.0003	0.0042	0.0009	0.0003	0.0010	0.0006	0.0013	0.0065	0.0009	0.0009	0.0007	0.0010	0.0083	0.0007	0.0007	0.0063	0.0055	4.808e-05	0	0.0007	0.0052	0.0015	0	0	0.0008	0.0005	0.0083	0.403	0.16574	T	0.126	0.35205	T	0.007	0.14184	B	0.009	0.14300	B	0.817441	0.09205	N	0.896444	1	0.08975	N	0.895	0.22405	L	-2.32	0.87830	D	-0.92	0.24676	N	0.184	0.19995	-0.7939	0.55502	T	0.372	0.73076	T	10	0.0034773946	0.00062	T	.	.	.	0.157	0.40909	.	.	0.597565973722	0.59436	0.1925431748783942	0.19172	.	.	0.35904815793	0.19247	T	0.02648	0.19585	T	-0.433201	0.01418	T	-0.390895	0.34445	T	0.0274290727443404	0.01606	T	0.791621	0.43272	T	0.030927548	0.02843	0.041754015	0.04819	0.030927548	0.02842	0.041754015	0.04819	-5.158	0.38512	T	.	.	0.099	0.29422	B	.;.;.	.;.;.	-0.288928	0.02665	0.342	0.8510123459603034	0.15686	0.43835	0.27186	N	AEFDBHCIJ	0.142383	0.26480	N	-1.40826445294708	0.02565	0.1134613	-1.46647093834076	0.02624	0.1210252	0.999999996047307	0.74766	0.712529	0.81865	0	0.697927	0.68747	0	0.635938	0.45252	0	0.683535	0.66460	0	.	.	5.1	-4.75	0.03003	0.010000	0.13140	-0.376000	0.09574	-0.637000	0.04462	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5997:0.0:0.4003:0.0	11.665	0.50632	798	0.45050	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1304.98	33	chr16	547082	.	G	C	1304.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.320e-01;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=-1.441e+00;SOR=0.756	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1213	20	0	1	0
chr16	563949	563949	C	G	exonic	PRR35	.	nonsynonymous SNV	PRR35:NM_145270:exon2:c.C655G:p.L219V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.993	D	0.024	N	0.947	D	2.135	M	2.97	T	-1.062	T	0.074	T	0.304	2.795	15.31	3.58	1.144	3.732	11.561	0.094	0.0577743053364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.584e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.037	0.51737	D	1.0	0.90584	D	0.993	0.81110	D	0.024294	0.26288	N	0.214129	0.946919	0.37547	D	2.05	0.56469	M	2.97	0.09450	T	-1.69	0.40274	N	0.571	0.59393	-1.0622	0.11215	T	0.074	0.29897	T	10	0.53313464	0.63297	D	0.057774	0.67084	D	0.094	0.27141	0.297	0.26202	0.289098819767	0.28531	0.5997736647859748	0.59908	0.535643185205	0.50923	.	.	.	0.100833	0.40701	T	-0.122123	0.32777	T	-0.413197	0.31857	T	0.925262749195099	0.58689	D	0.705929	0.31637	T	0.33919504	0.56216	0.5779605	0.75544	0.33919504	0.56216	0.5779605	0.75545	-8.823	0.66551	D	.	.	0.153	0.33846	B	.	.	3.619915	0.51223	23.1	0.99698577465509552	0.80453	0.98346	0.81852	D	AEFDGBI	0.635073	0.61472	D	0.333936684801608	0.57897	3.959106	0.195429471381934	0.49595	3.160893	0.999999282589919	0.74766	0.403107	0.06075	0	0.578056	0.33634	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.53	3.58	0.40133	2.576000	0.45698	1.715000	0.28221	0.599000	0.40250	0.956000	0.33378	0.912000	0.28152	0.729000	0.35066	0.0:0.9136:0.0:0.0864	11.561	0.50031	783	0.47268	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	30.98	37	chr16	563949	.	C	G	30.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.627e+00;DP=908;ExcessHet=0.0000;FS=31.205;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.47;ReadPosRankSum=0.285;SOR=4.610	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,102,1062	20	0	1	0
chr16	574331	574331	C	T	exonic	PIGQ	.	nonsynonymous SNV	PIGQ:NM_004204:exon2:c.C257T:p.A86V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.919	P	0.306	B	0.008	N	0.976	N	1.245	L	1.95	T	-0.919	T	0.107	T	0.328	2.591	14.62	5.14	2.382	3.835	13.339	0.058	0.0120594829972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.374e-06	2.736e-06	1.367e-06	1.38e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.53172	D	0.1	0.58613	T	0.51	0.50927	P	0.154	0.41250	B	0.008151	0.30992	N	0.382230	0.976277	0.25384	N	2.015	0.55033	M	0.78	0.50192	T	-2.41	0.55501	N	0.105	0.17553	-0.9190	0.45689	T	0.107	0.38979	T	10	0.21510094	0.38053	T	0.012059	0.30290	T	0.058	0.16647	0.212	0.13066	0.594565568268	0.59134	0.3441018370201927	0.34324	0.144358480749	0.16299	0.427574515343	0.28877	T	0.044814	0.26930	T	-0.0968606	0.36945	T	-0.37691	0.36084	T	0.714948713779449	0.41444	D	0.79912	0.45525	T	0.08666401	0.20152	0.07948324	0.17896	0.08666401	0.20152	0.07948324	0.17895	-5.537	0.42213	T	.	.	0.095	0.21390	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.095474	0.41698	21.4	0.9984853562601238	0.92838	0.96299	0.68462	D	AEFBI	0.602742	0.59449	D	0.194029746411191	0.50913	3.27687	0.267050582930619	0.53624	3.530578	0.998876366733264	0.37868	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.14	5.14	0.70008	2.579000	0.45725	5.857000	0.50394	0.580000	0.29708	0.049000	0.21372	0.781000	0.26780	0.925000	0.46118	0.0:0.8415:0.1585:0.0	13.339	0.59976	804	0.43891	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1053.98	59	chr16	574331	.	C	T	1053.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.310e-01;DP=1094;ExcessHet=0.0000;FS=4.447;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=0.478;SOR=1.217	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1800	20	0	1	0
chr16	632654	632654	G	A	exonic	WFIKKN1	.	nonsynonymous SNV	WFIKKN1:NM_053284:exon2:c.G244A:p.G82S,	.	.	.	.	.	.	.	.	.	.	.	2334226	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	0.998	D	0.648	P	0.394	N	1.000	N	1.87	L	-0.39	T	-0.816	T	0.262	T	0.158	2.253	13.49	-0.020	-0.114	2.161	6.748	0.169	0.0401372448942	7.7e-05	.	0.0003	0	0	0	0	0.0005	0	0	0.0001811	28	154602	rs149287908	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	3.392e-05	3.055e-05	0	0	0.0066	0	0	0.0002	4.431e-05	0.0004	3.536e-05	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	9.699e-05	1.972e-05	1.124e-05	0	0	6.539e-05	0.0055	0.0002	0	0	5.88e-05	0	0	0.524	0.07163	T	0.045	0.49390	D	0.998	0.73220	D	0.648	0.52381	P	0.393671	0.13220	N	0.726188	1	0.08975	N	1.81	0.47622	L	-0.39	0.69158	T	-0.46	0.14978	N	0.189	0.20660	-0.8162	0.54171	T	0.262	0.63339	T	10	0.0061183274	0.00138	T	0.040137	0.59207	D	0.169	0.43123	.	.	0.63470690541	0.63171	0.28657738923385484	0.28570	0.115736447682	0.13058	0.354617297649	0.18600	T	0.022598	0.17395	T	-0.270359	0.11717	T	-0.410793	0.32133	T	0.0353169688786567	0.02862	T	0.494351	0.15306	T	0.030265234	0.02661	0.03167251	0.01790	0.030265234	0.02660	0.03167251	0.01789	-2.714	0.07421	T	.	.	0.082	0.08948	B	.	.	1.697216	0.21620	15.28	0.99433707424359463	0.64374	0.20353	0.21009	N	AEFDBCI	0.201585	0.32824	N	-0.361565248090857	0.26849	1.468544	-0.586728788458854	0.19839	1.066218	0.999997594067599	0.74766	0.634777	0.41761	0	0.550933	0.16991	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.4	-0.0204	0.13281	1.922000	0.39675	0.097000	0.14596	0.522000	0.23927	0.021000	0.19753	0.000000	0.08366	0.006000	0.07323	0.1743:0.2036:0.6221:0.0	6.748	0.22661	649	0.63102	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	827.98	39	chr16	632654	.	G	A	827.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.381e+00;DP=829;ExcessHet=0.0000;FS=3.066;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=-2.900e-01;SOR=0.406	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1084	20	0	1	0
chr16	633822	633822	A	G	exonic	WFIKKN1	.	nonsynonymous SNV	WFIKKN1:NM_053284:exon2:c.A1412G:p.K471R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.001	B	0.003	B	0.045	N	0.951	N	0.44	N	1.66	T	-1.033	T	0.037	T	0.069	1.434	10.73	0.662	0.089	2.699	8.137	0.038	0.00258849113691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	0.10838	T	0.576	0.08624	T	0.001	0.07471	B	0.003	0.08700	B	0.044853	0.23596	N	0.433172	0.951009	0.26486	N	0.065	0.08236	N	1.66	0.27486	T	-0.41	0.14000	N	0.076	0.05037	-1.0334	0.19363	T	0.037	0.16160	T	10	0.09118718	0.15952	T	0.002588	0.05235	T	0.038	0.09825	0.444	0.50139	0.348324211639	0.34438	0.522384623725625	0.52161	0.0984549818556	0.11127	0.401542574167	0.25283	T	0.030082	0.21407	T	-0.302841	0.08394	T	-0.672787	0.07431	T	0.104878008365631	0.12885	T	0.827217	0.49094	T	0.03558321	0.04215	0.036836553	0.03211	0.03558321	0.04214	0.036836553	0.03211	-1.897	0.02815	T	.	.	0.066	0.02145	B	.	.	1.810692	0.23013	15.85	0.95401864797051139	0.26855	0.68863	0.33964	D	AEFBCI	0.121195	0.23574	N	-0.496845670284444	0.22184	1.182746	-0.344541282164574	0.26679	1.475157	0.999993831980048	0.74766	0.634777	0.41761	0	0.379588	0.06130	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.31	0.662	0.17049	2.242000	0.42756	3.705000	0.39538	0.738000	0.86027	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.6805:0.0:0.3195:0.0	8.137	0.30219	649	0.63102	Netrin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1305.98	39	chr16	633822	.	A	G	1305.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.043e+00;DP=886;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=-2.586e+00;SOR=0.709	GT:AD:DP:GQ:PL	0/1:70,54:124:99:1320,0,1880	20	0	1	0
chr16	634526	634526	C	G	exonic	METTL26	.	stoploss	METTL26:NM_001040165:exon4:c.G558C:p.X186Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	0.788	8.153	-2.77	-0.369	-1.047	1.698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.01	0.00095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.452034	0.01099	T	-0.887092	0.00598	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	0.618315	0.09867	6.629	0.49233141031618194	0.04175	0.09607	0.15325	N	AEFDGBCI	.	.	.	-0.394772038432792	0.25655	1.394253	-0.814913093345397	0.14135	0.7369656	0.999965605605072	0.48965	0.295142	0.05270	0	0.271743	0.05004	0	0.189914	0.04498	0	0.322829	0.05601	0	0.0762293	0.17635	3.8	-2.77	0.05529	-0.202000	0.09453	-0.053000	0.12521	-0.981000	0.01897	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1231:0.4052:0.2022:0.2695	1.698	0.02694	649	0.63102	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1823.98	33	chr16	634526	.	C	G	1823.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.580e-01;DP=837;ExcessHet=0.0000;FS=0.652;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=-1.879e+00;SOR=0.777	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1295	20	0	1	0
chr16	661983	661983	C	G	exonic	WDR90	.	nonsynonymous SNV	WDR90:NM_145294:exon32:c.C3957G:p.S1319R,	.	.	427	1081	14	0	0	14	0.00643382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.698	P	0.361	B	0.029	U	1.000	N	1.5	L	0.77	T	-0.938	T	0.093	T	0.281	2.135	13.10	-2.12	-0.697	-0.093	10.558	0.107	.	0.0002	0.00199681	0.0011	0.0001	8.666e-05	0	0	0.0002	0.0023	0.0070	0.0009638	149	154602	rs200652650	0.0006	0.0006	0.0003	0.0009	0.0076	0.0005	0.0005	0.0072	0.0070	0	0	0	0	0	0.0024	0.0001	0.0006	0.0076	0.0003	0.0003	0.0002	0.0005	0.0075	0.0003	0.0002	0.0055	0.0049	2.406e-05	0	0	0	0	0	0	0.0002	0	0.0075	0.096	0.31088	T	0.013	0.63109	D	0.589	0.41805	P	0.361	0.43233	B	0.028611	0.25577	U	0.381197	1	0.08975	N	1.655	0.42436	L	0.77	0.49642	T	-1.74	0.42191	N	0.429	0.46835	-0.9379	0.42947	T	0.093	0.35283	T	10	0.004832983	0.00103	T	.	.	.	0.107	0.30369	0.503	0.59615	0.208000267992	0.20380	0.354195123935592	0.35333	0.572662705964	0.53348	0.507903337479	0.39928	T	0.030551	0.21631	T	-0.522044	0.00428	T	-0.518231	0.20473	T	0.0838651167545904	0.10474	T	0.867113	0.56785	D	0.08741519	0.20355	0.08956711	0.20952	0.08741519	0.20355	0.08956711	0.20951	-4.156	0.26112	T	.	.	0.303	0.58657	B	.;.	.;.	0.660897	0.10293	7.026	0.99175016998645982	0.54498	0.13701	0.18004	N	AEFGBI	0.120640	0.23491	N	-0.802832804572844	0.13237	0.6507176	-0.948157214480581	0.10965	0.5557462	0.950214328996958	0.27884	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.18	-2.12	0.06766	-0.073000	0.11428	-0.945000	0.06834	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.044000	0.14658	0.0:0.6088:0.0:0.3912	10.558	0.44318	654	0.62520	WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1033.98	40	chr16	661983	.	C	G	1033.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.295e+00;DP=846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=-1.880e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1252	20	0	1	0
chr16	666739	666739	G	A	exonic	WDR90	.	nonsynonymous SNV	WDR90:NM_145294:exon39:c.G4951A:p.V1651M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.868	P	0.690	U	1.000	N	1.7	L	3.34	T	-0.777	T	0.332	T	0.341	3.191	16.68	2.49	0.869	2.076	4.527	0.095	0.122975252903	.	.	1.677e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs746230794	6.162e-06	6.156e-06	4.087e-06	8.258e-06	5.974e-05	2.9e-06	2.1e-06	9.89e-06	3.7e-06	5.974e-05	2.236e-05	0	0	0	0	3.597e-06	1.656e-05	1.159e-05	1.972e-05	1.97e-05	2.57e-05	1.346e-05	0.0002	5.24e-06	2.45e-06	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0.0002	0.051	0.41637	T	0.02	0.58613	D	0.996	0.73220	D	0.742	0.61700	P	0.689860	0.10185	U	0.837650	0.999834	0.20152	N	2.135	0.59519	M	3.34	0.67011	T	-1.25	0.40850	N	0.145	0.34874	-0.7770	0.56470	T	0.332	0.69919	T	10	0.17171967	0.31905	T	0.122975	0.80405	D	0.102	0.29158	0.527	0.63263	0.242244723065	0.23846	0.33949312622946076	0.33862	0.547044844208	0.51677	0.328972965479	0.14778	T	0.038396	0.24824	T	-0.120809	0.32992	T	-0.328445	0.41643	T	0.443010167517364	0.30540	T	0.80392	0.46649	T	0.03885748	0.05257	0.05266818	0.08721	0.03885748	0.05256	0.05266818	0.08721	-8.183	0.62310	D	.	.	0.181	0.42259	B	.;.;.;.	.;.;.;.	3.134422	0.42367	21.5	0.99573219403945501	0.72501	0.12107	0.17064	N	AEFGBI	0.124030	0.23990	N	-0.157859529637706	0.34902	1.998036	-0.364798967094195	0.26054	1.436737	0.999969004608453	0.48965	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.47	2.49	0.29274	1.723000	0.37675	1.810000	0.28954	-0.165000	0.11486	0.006000	0.17386	0.006000	0.19429	0.000000	0.00833	0.1909:0.0:0.6319:0.1771	4.527	0.11390	649	0.63102	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1271.98	78	chr16	666739	.	G	A	1271.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.29;DP=1265;ExcessHet=0.0000;FS=3.951;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=0.563;SOR=0.448	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1177	20	0	1	0
chr16	667566	667566	G	A	exonic	WDR90	.	nonsynonymous SNV	WDR90:NM_145294:exon41:c.G5224A:p.V1742M,	.	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.967	D	0.775	P	0.000	U	1.000	D	1.78	L	3.18	T	-0.477	T	0.329	T	0.564	1.904	12.32	2.93	0.497	1.319	9.728	0.158	.	.	0.00279553	0.0020	0	0.0002	0.0001	0	1.548e-05	0.0012	0.0143	0.0016753	259	154602	rs201597639	0.0008	0.0008	0.0004	0.0012	0.0133	0.0008	0.0008	0.0127	0.0124	2.987e-05	2.237e-05	0	2.519e-05	0	0.0003	4.497e-06	0.0008	0.0133	0.0004	0.0004	0.0003	0.0005	0.0120	0.0003	0.0003	0.0095	0.0086	0	0	0	0	0.0002	0	0	0	0	0.0120	0.009	0.57480	D	0.041	0.50514	D	0.93	0.56408	P	0.527	0.57058	P	0.000470	0.44119	U	0.093576	1	0.81001	D	2.19	0.61577	M	3.18	0.69777	T	-1.78	0.46673	N	0.242	0.32812	-0.4775	0.69458	T	0.329	0.69716	T	10	0.011935383	0.00259	T	.	.	.	0.158	0.41098	0.52	0.62217	0.316788114976	0.31282	0.271521310689603	0.27065	0.546399409518	0.51636	0.475173652172	0.35393	T	0.040457	0.25533	T	-0.290785	0.09557	T	-0.178793	0.56635	T	0.0647677809351308	0.07897	T	0.819918	0.48860	T	0.108039156	0.25547	0.14967738	0.35332	0.108039156	0.25547	0.14967738	0.35331	-5.391	0.40833	T	.	.	0.199	0.50073	B	.;.;.;.	.;.;.;.	3.443168	0.47909	22.5	0.99023980190399763	0.50634	0.51117	0.28821	D	AEFGBCI	0.115350	0.22684	N	-0.0311280158558632	0.40451	2.40233	-0.0510547452822444	0.37444	2.192505	0.999999475245188	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.26897	0.05253	2	0.592323	0.36904	0	.	.	4.9	2.93	0.33092	1.713000	0.37570	5.462000	0.48674	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.677000	0.33454	0.171:0.0:0.829:0.0	9.728	0.39508	649	0.63102	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	901.98	50	chr16	667566	.	G	A	901.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.240e+00;DP=1095;ExcessHet=0.0000;FS=4.924;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=0.363;SOR=0.299	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1308	20	0	1	0
chr16	685271	685271	C	T	exonic	WDR24	.	nonsynonymous SNV	WDR24:NM_032259:exon7:c.G2005A:p.D669N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.999	D	0.922	D	0.000	D	1.000	D	1.78	L	0.17	T	-0.058	T	0.542	D	0.118	5.037	29.8	4.77	2.480	5.501	16.941	0.193	0.109234200493	7.7e-05	.	1.728e-05	0	0	0	0	3.136e-05	0	0	1.29e-05	2	154602	rs376665117	6.937e-07	1.368e-06	0	1.399e-06	9.074e-07	0	0	.	.	0	0	0	0	0	0	9.074e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.21968	T	0.274	0.25670	T	0.999	0.77913	D	0.922	0.65739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.14	0.59869	M	0.17	0.79277	T	-1.19	0.34992	N	0.84	0.83576	-0.0579	0.81038	T	0.542	0.83122	D	10	0.3384763	0.50952	T	0.109234	0.78612	D	0.193	0.47281	.	.	0.829515063205	0.82789	0.4481674512621745	0.44734	1.20363846832	0.80614	0.744740247726	0.73669	T	0.021079	0.16480	T	-0.059337	0.43010	T	-0.32301	0.42243	T	0.904985785484314	0.55860	D	0.922208	0.71716	D	0.21362074	0.43745	0.16749293	0.38638	0.21362074	0.43745	0.16749293	0.38637	.	.	.	.	.	0.145	0.31956	B	.;.;.	.;.;.	5.420470	0.90688	31	0.99903533149009149	0.97502	0.91971	0.54660	D	AEFDBHCI	0.566224	0.57229	D	0.586651396740301	0.72339	5.790448	0.573801007755239	0.73068	5.910301	0.999999999997536	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.26897	0.05253	2	0.711	0.71501	0	.	.	4.77	4.77	0.60425	5.736000	0.68239	7.565000	0.60571	0.578000	0.29377	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:1.0:0.0:0.0	16.941	0.86086	628	0.65206	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1937.98	37	chr16	685271	.	C	T	1937.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.49;DP=874;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=-2.001e+00;SOR=0.672	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1162	20	0	1	0
chr16	697179	697179	G	A	exonic	FBXL16	.	nonsynonymous SNV	FBXL16:NM_153350:exon2:c.C227T:p.P76L,	.	.	443	1060	18	1	0	20	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.0	B	0.0	B	0.377	N	1.000	N	0.345	N	-1.66	D	-0.840	T	0.336	T	0.043	-0.976	0.298	1.98	-0.091	0.540	9.957	0.247	0.303235837578	.	0.00159744	0.0008	0	0.0006	0.0002	0	0.0002	0.0039	0.0058	0.0005757	89	154602	rs546035990	0.0004	0.0004	0.0003	0.0006	0.0049	0.0004	0.0004	0.0045	0.0043	9.255e-05	0.0005	0	5.119e-05	0	0.0019	9.722e-05	0.0007	0.0049	0.0003	0.0003	0.0002	0.0003	0.0050	0.0002	0.0002	0.0035	0.0029	2.423e-05	0	0.0001	0	0.0002	0	0.0034	0.0002	0	0.0050	0.055	0.38407	T	0.134	0.34241	T	0.0	0.02946	B	0.0	0.01387	B	0.377362	0.04399	N	1.363540	0.999999	0.08975	N	1.1	0.28011	L	-1.66	0.82715	D	0.05	0.06369	N	0.081	0.05670	-0.8396	0.52673	T	0.336	0.70240	T	10	0.006508887	0.00147	T	0.303236	0.90951	D	0.247	0.55478	.	.	0.043077524339	0.03247	0.1932414902649941	0.19242	0.541579872358	0.51303	0.547271966934	0.45472	T	0.023791	0.18095	T	-0.500643	0.00567	T	-0.491512	0.23232	T	0.00867409649268681	0.00106	T	0.415458	0.10884	T	0.0373176	0.04761	0.06367278	0.12647	0.0373176	0.04761	0.06367278	0.12646	-4.061	0.24713	T	.	.	0.069	0.03372	B	.;.	.;.	1.601706	0.20476	14.77	0.7419711608897287	0.10606	0.31140	0.24262	N	AEFBI	0.126407	0.24334	N	-1.42038254293234	0.02460	0.1086549	-1.37888627048301	0.03478	0.1623141	0.180202301815477	0.17861	0.582742	0.33608	0	0.59043	0.45803	0	0.61531	0.40942	0	0.562822	0.20929	0	.	.	4.04	1.98	0.25351	1.229000	0.32202	4.336000	0.43042	-0.391000	0.05343	0.887000	0.31133	0.987000	0.30940	0.004000	0.06068	0.0836:0.0:0.7731:0.1433	9.957	0.40843	684	0.59539	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	195.98	20	chr16	697179	.	G	A	195.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.600;DP=598;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.30;ReadPosRankSum=0.633;SOR=0.593	GT:AD:DP:GQ:PL	0/0:16,0:16:39:0,39,516	20	0	1	0
chr16	716952	716952	C	G	exonic	METRN	.	nonsynonymous SNV	METRN:NM_024042:exon3:c.C525G:p.S175R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.999	D	0.969	D	0.000	D	1.000	N	2.415	M	.	.	-0.698	T	0.227	T	0.493	1.615	11.36	-6.79	-1.483	-0.634	13.622	0.448	0.0142100118387	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.11e-06	2.736e-06	4.172e-06	0	1.835e-06	5.6e-07	1.6e-07	3.1e-07	1.1e-07	0	0	0	0	0	0	1.835e-06	1.709e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.63226	T	0.195	0.72224	T	0.999	0.77913	D	0.969	0.72001	D	0.000251	0.46924	D	0.184221	1	0.08975	N	2.385	0.68708	M	1.56	0.29602	T	-3.31	0.65972	D	0.5	0.53269	-0.6978	0.60543	T	0.227	0.59196	T	9	0.3466386	0.51614	T	0.01421	0.34172	T	0.448	0.74935	0.335	0.32329	0.183819452728	0.17975	0.5677906162683896	0.56707	0.383440680805	0.39667	0.695596456528	0.66509	T	0.171615	0.51981	T	-0.133736	0.30894	T	-0.429879	0.29949	T	0.972743690013885	0.69818	D	0.905609	0.82399	D	0.46013534	0.64679	0.3097796	0.56991	0.46013534	0.64680	0.3097796	0.56990	-8.183	0.62310	D	.	.	0.486	0.67403	A	.;.;.	.;.;.	1.210135	0.16029	12.27	0.98311250536255357	0.40144	0.15053	0.18720	N	AEFDBCI	0.295636	0.40570	N	-0.665878337908994	0.17000	0.8710496	-1.0112667939555	0.09536	0.4750398	0.999999993602852	0.74766	0.72623	0.87236	0	0.694456	0.67091	0	0.594344	0.31042	0	0.699875	0.68795	0	.	.	4.25	-6.79	0.01554	-0.665000	0.05386	-1.341000	0.05672	-0.863000	0.02614	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.2584:0.0:0.7416	13.622	0.61615	662	0.61715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1253.98	33	chr16	716952	.	C	G	1253.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.030e-01;DP=846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=0.980;SOR=0.614	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1394	20	0	1	0
chr16	716974	716974	G	A	exonic	METRN	.	nonsynonymous SNV	METRN:NM_024042:exon3:c.G547A:p.A183T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.068	B	0.014	B	0.010	N	1.000	N	1.1	L	.	.	-1.026	T	0.067	T	0.389	1.259	10.11	2.06	0.365	1.086	3.715	0.056	0.00571539674708	.	.	2.762e-05	0	0	0	0	4.88e-05	0	0	3.23e-05	5	154602	rs754170916	1.449e-05	2.531e-05	8.23e-06	2.083e-05	2.529e-05	9.31e-06	7.9e-06	1.018e-05	8.4e-06	0	0	0	2.529e-05	0	0	1.629e-05	3.341e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.07	0.47828	T	0.068	0.23728	B	0.014	0.16862	B	0.010445	0.29920	N	0.313360	1	0.20548	N	2.2	0.62015	M	1.57	0.29342	T	-0.54	0.18670	N	0.191	0.21056	-1.0262	0.21690	T	0.067	0.27468	T	9	0.17910671	0.33029	T	0.005715	0.14802	T	0.056	0.15993	0.446	0.50466	0.0551355673512	0.04727	0.5772410575240071	0.57653	0.556899901416	0.52327	0.476079583168	0.35518	T	0.034587	0.23434	T	-0.160333	0.26709	T	-0.398246	0.33588	T	0.378901094198227	0.28140	T	0.90091	0.76886	D	0.069902115	0.15352	0.07861754	0.17625	0.069902115	0.15352	0.07861754	0.17625	-4.745	0.33944	T	.	.	0.105	0.25785	B	.;.;.	.;.;.	2.127845	0.27087	17.34	0.98063972763152307	0.37968	0.08609	0.14514	N	AEFDBCI	0.171842	0.29884	N	-0.812018462998977	0.13002	0.6375901	-0.860518301309743	0.13034	0.6739785	0.999999634200481	0.74766	0.72623	0.87236	0	0.694456	0.67091	0	0.594344	0.31042	0	0.699875	0.68795	0	.	.	4.09	2.06	0.25932	1.812000	0.38590	1.912000	0.29653	0.675000	0.71128	0.011000	0.18532	0.120000	0.22892	0.130000	0.19568	0.2077:0.0:0.5984:0.1939	3.715	0.07964	662	0.61715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2539.98	33	chr16	716974	.	G	A	2539.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.184;DP=898;ExcessHet=0.0000;FS=3.037;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.93;ReadPosRankSum=0.599;SOR=0.484	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1394	20	0	1	0
chr16	722968	722968	C	T	exonic	CCDC78	.	nonsynonymous SNV	CCDC78:NM_001378033:exon9:c.G688A:p.E230K	Myopathy, centronuclear, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.408	B	0.045	B	.	.	1.000	D	.	.	.	.	-1.093	T	0.083	T	.	1.828	12.07	2.53	0.328	2.226	8.118	0.026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1294022125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4346.08	40	chr16	722968	.	C	T	4346.08	.	AC=2;AF=0.048;AN=42;DP=948;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.72;SOR=0.864	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	1	0	0
chr16	724193	724193	G	T	exonic	CCDC78	.	nonsynonymous SNV	CCDC78:NM_001378033:exon6:c.C399A:p.N133K	Myopathy, centronuclear, 4, Autosomal dominant	.	9	1498	14	1	0	16	0.00531208	.	.	134083	not_provided|Congenital_myopathy_with_internal_nuclei_and_atypical_cores	MedGen:C3661900|MONDO:MONDO:0013890,MedGen:C4707232,OMIM:614807,Orphanet:319160	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.93	T	0.056	B	0.029	B	0.582	N	1.000	N	0.69	N	1.53	T	-1.017	T	0.058	T	0.069	-1.406	0.023	1.84	0.366	0.311	6.360	0.021	.	0.0022	0.00579073	0.0038	0.0010	0.0003	0	0.0005	0.0023	0.0024	0.0215	0.003564	551	154602	rs148595483	0.0041	0.0041	0.0037	0.0044	0.0156	0.0040	0.0039	0.0149	0.0147	0.0006	0.0006	8.004e-05	2.53e-05	0.0006	0.0018	0.0039	0.0027	0.0156	0.0025	0.0025	0.0025	0.0026	0.0157	0.0023	0.0022	0.0129	0.0118	0.0009	0	0.0010	0	0.0002	0.0003	0	0.0036	0.0028	0.0157	0.473	0.08408	T	0.037	0.51737	D	0.027	0.19556	B	0.029	0.21540	B	0.581672	0.11138	N	0.781096	1	0.08975	N	0.41	0.12415	N	1.53	0.30401	T	-0.63	0.18459	N	0.06	0.03175	-1.0174	0.24560	T	0.058	0.24204	T	10	0.003260076	0.00056	T	.	.	.	0.021	0.04004	0.35	0.34760	0.107399877778	0.10242	0.11275436581039935	0.11203	0.211714355051	0.23670	0.340663194656	0.16537	T	0.015237	0.12817	T	-0.664669	0.00059	T	-0.713247	0.05129	T	0.00010470310371602	0.00001	T	0.368163	0.08622	T	0.047227595	0.08038	0.034122482	0.02423	0.04815953	0.08349	0.037383053	0.03379	0.924	0.00142	T	0.07373419810585047	0.03135	0.184	0.39798	B	.	.	0.686643	0.10553	7.261	0.55073912796119606	0.05267	0.20745	0.21153	N	AEFDGBHCI	0.135530	0.25589	N	-0.877688504474423	0.11374	0.5485844	-0.98876482275893	0.10037	0.503023	0.999861528262454	0.44398	0.660377	0.49826	0	0.611049	0.52481	0	0.696353	0.63694	0	0.604944	0.38103	0	.	.	3.86	1.84	0.24348	0.909000	0.28180	1.417000	0.26331	-0.292000	0.06281	0.001000	0.13787	0.881000	0.27706	0.001000	0.02609	0.2528:0.0:0.7472:0.0	6.360	0.20628	662	0.61715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	881.98	41	chr16	724193	.	G	T	881.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.330e-01;DP=785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.89;ReadPosRankSum=-3.590e-01;SOR=0.730	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1247	20	0	1	0
chr16	730545	730545	C	T	exonic	CIAO3	.	nonsynonymous SNV	CIAO3:NM_022493:exon11:c.G1303A:p.A435T	.	.	412	1098	12	0	0	12	0.00543478	.	.	740344	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.021	B	0.017	B	0.951	N	1.000	N	1.1	L	0.95	T	-1.005	T	0.063	T	0.099	1.049	9.285	2.59	1.072	0.051	6.361	0.039	0.013288295674	0.0011	0.00219649	0.0010	0.0031	0.0003	0	0	0.0002	0.0023	0.0041	0.0008667	134	154602	rs144802616	0.0005	0.0005	0.0003	0.0006	0.0047	0.0004	0.0004	0.0044	0.0042	0.0028	8.945e-05	0	0	0	0.0024	0.0001	0.0005	0.0047	0.0011	0.0011	0.0010	0.0012	0.0048	0.0010	0.0009	0.0033	0.0028	0.0029	0	0.0003	0	0.0002	0	0	0.0003	0	0.0048	0.134	0.33923	T	0.223	0.25987	T	0.021	0.18474	B	0.017	0.18140	B	0.951100	0.07656	N	1.020300	0.999989	0.18198	N	.	.	.	0.95	0.43279	T	1.04	0.01332	N	0.063	0.03502	-1.0046	0.28577	T	0.063	0.26172	T	10	0.004642874	0.00097	T	0.013288	0.32578	T	0.039	0.10176	.	.	0.305086939656	0.30112	0.31218571573009907	0.31131	0.158669264731	0.17909	0.314992278814	0.12662	T	0.04542	0.27117	T	-0.599468	0.00147	T	-0.633878	0.10122	T	0.00635312872298432	0.00071	T	0.340966	0.07383	T	0.06341219	0.13350	0.08249623	0.18831	0.06341219	0.13350	0.08249623	0.18831	-3.985	0.27627	T	.	.	0.067	0.02488	B	.;.;.	.;.;.	1.211040	0.16041	12.28	0.98273020789092069	0.39777	0.13750	0.18031	N	AEFBHCI	0.073590	0.14726	N	-0.796551659698061	0.13400	0.6598177	-0.817076902808489	0.14082	0.7339586	0.999898122986667	0.45129	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.94	2.59	0.30091	0.969000	0.28967	1.078000	0.23865	0.526000	0.24426	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6189:0.0:0.3811	6.361	0.20634	650	0.62973	Iron hydrogenase, small subunit|Iron hydrogenase, small subunit;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3621.98	37	chr16	730545	.	C	T	3621.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.501;DP=1011;ExcessHet=0.0000;FS=0.988;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.55;ReadPosRankSum=0.273;SOR=0.610	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1342	20	0	1	0
chr16	765234	765234	C	T	exonic	MSLN	.	nonsynonymous SNV	MSLN:NM_013404:exon8:c.C635T:p.P212L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.001	B	0.0	B	0.000	N	1.000	N	-1.1	N	2.75	T	-0.984	T	0.009	T	0.066	0.341	5.849	-5.61	-1.647	-1.449	2.559	0.031	0.00309411316019	.	0.000199681	7.421e-05	0	0.0007	0	0	0	0	9.304e-05	3.23e-05	5	154602	rs545304974	2.723e-05	2.873e-05	2.358e-05	3.093e-05	9.045e-05	2.039e-05	1.79e-05	2.397e-05	1.436e-05	9.045e-05	4.735e-05	0	2.573e-05	0	0	2.446e-05	5.038e-05	3.583e-05	3.939e-05	3.937e-05	3.854e-05	4.027e-05	0.0004	1.714e-05	1.129e-05	6.82e-05	2.855e-05	4.81e-05	0	6.533e-05	0	0.0004	0	0	1.47e-05	0	0	0.357	0.12032	T	0.515	0.10643	T	0.0	0.07471	B	0.0	0.01387	B	0.000169	0.00496	N	10.548800	1	0.08975	N	1.09	0.27330	L	2.75	0.11622	T	-3.37	0.66665	D	0.082	0.06322	-0.9840	0.34069	T	0.009	0.03054	T	10	0.026279658	0.00798	T	0.003094	0.06696	T	0.031	0.07369	0.434	0.48500	0.255777322467	0.25185	0.21647584190114308	0.21563	0.0458901752618	0.04982	0.419752597809	0.27801	T	0.133402	0.46406	T	-0.548267	0.00299	T	-0.820774	0.01437	T	0.0460279630939218	0.04790	T	0.322368	0.06563	T	0.054530486	0.10474	0.08567847	0.19800	0.054530486	0.10473	0.08567847	0.19799	-1.47	0.01844	T	.	.	0.076	0.08033	B	.;.;.;.	.;.;.;.	-0.244482	0.02871	0.407	0.64183291905409412	0.07424	0.00237	0.01320	N	AEFBI	0.034358	0.04242	N	-2.16677053851288	0.00091	0.003891763	-2.19545041473129	0.00115	0.005038302	0.973858191279648	0.29492	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	2.8	-5.61	0.02291	-2.373000	0.01151	-0.169000	0.11245	-1.873000	0.00550	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1304:0.4319:0.2843:0.1534	2.559	0.04478	759	0.50631	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2077.98	38	chr16	765234	.	C	T	2077.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.037;DP=896;ExcessHet=0.0000;FS=1.920;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=2.18;SOR=0.554	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1011	20	0	1	0
chr16	787085	787085	C	T	exonic	RPUSD1	.	nonsynonymous SNV	RPUSD1:NM_001324412:exon3:c.G14A:p.G5D	.	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.178	B	0.137	B	0.000	D	1.000	D	0.89	L	2.59	T	-1.066	T	0.030	T	0.756	2.790	15.29	3.18	0.910	3.134	12.318	0.166	0.0775131887427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.064e-06	3.42e-06	0	4.149e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	9.011e-07	1.665e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416	0.24955	T	0.35	0.51112	T	0.178	0.28960	B	0.137	0.33328	B	0.000037	0.55875	D	0.160792	0.999958	0.81001	D	-0.12	0.04575	N	2.59	0.51474	T	-0.35	0.12847	N	0.596	0.62273	-1.0661	0.10293	T	0.030	0.12848	T	10	0.21531391	0.38080	T	0.077513	0.72787	D	0.166	0.42578	0.554	0.67133	0.476205827853	0.47248	0.6963733126936741	0.69578	0.358935170816	0.37593	0.765232682228	0.76709	T	0.01392	0.11951	T	0.0512377	0.58502	T	-0.164177	0.57975	T	0.836479067802429	0.49042	D	0.860614	0.57326	D	0.17252788	0.37948	0.09872595	0.23547	0.17252788	0.37948	0.09872595	0.23546	-4.91	0.35847	T	.	.	0.136	0.36693	B	.;.;.;.;.;.	.;.;.;.;.;.	3.650501	0.51811	23.1	0.9899095865527382	0.49943	0.90033	0.50899	D	AEFBI	0.516782	0.54318	D	-0.165948444325962	0.34558	1.974006	-0.0616548493117379	0.36989	2.159873	0.999999481482757	0.74766	0.660085	0.49399	0	0.672317	0.65289	0	0.723109	0.80598	0	0.651492	0.60203	0	.	.	4.18	3.18	0.35615	4.117000	0.57623	5.848000	0.50311	0.577000	0.29297	1.000000	0.71638	1.000000	0.68203	0.876000	0.41813	0.0:0.8275:0.1725:0.0	12.318	0.54294	749	0.51929	Pseudouridine synthase, RsuA/RluB/C/D/E/F|Pseudouridine synthase, RsuA/RluB/C/D/E/F;Pseudouridine synthase, RsuA/RluB/C/D/E/F|Pseudouridine synthase, RsuA/RluB/C/D/E/F;.;.;.;Pseudouridine synthase, RsuA/RluB/C/D/E/F	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1658.98	36	chr16	787085	.	C	T	1658.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.261e+00;DP=883;ExcessHet=0.0000;FS=1.429;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.17;ReadPosRankSum=1.71;SOR=0.615	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1460	20	0	1	0
chr16	788748	788748	G	A	exonic	CHTF18	.	nonsynonymous SNV	CHTF18:NM_022092:exon1:c.G64A:p.E22K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.989	D	0.878	P	0.024	N	1.000	D	1.845	L	2.29	T	-1.023	T	0.110	T	0.378	4.016	20.6	4.21	2.053	6.890	9.386	0.140	0.260808146967	.	.	3.431e-05	0	0.0002	0	0	3.069e-05	0	0	1.29e-05	2	154602	rs778695815	2.071e-06	4.788e-06	2.744e-06	1.389e-06	2.306e-05	5.5e-07	1.5e-07	.	.	0	2.306e-05	0	0	0	0	0	3.342e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.56456	D	0.009	0.66756	D	0.885	0.51791	P	0.246	0.45317	B	0.024136	0.26317	N	0.426722	0.999892	0.50595	D	2.125	0.59049	M	2.29	0.25841	T	-2.47	0.53898	N	0.363	0.58713	-1.0227	0.22834	T	0.110	0.39651	T	10	0.32315877	0.49657	T	0.260808	0.89499	D	0.140	0.37593	0.427	0.47350	0.0846915920261	0.08053	0.49092862023901945	0.49012	.	.	0.906952857971	0.97174	D	0.353049	0.72039	T	-0.0797453	0.39756	T	-0.352325	0.38938	T	0.857115387916565	0.50790	D	0.90391	0.67067	D	0.14725971	0.33672	0.14388339	0.34179	0.14725971	0.33672	0.14388339	0.34178	-14.195	0.93673	D	.	.	0.942	0.86127	P	.;.;.;.	.;.;.;.	5.467695	0.91239	32	0.99888155944494095	0.96281	0.96729	0.70627	D	ALL	0.796382	0.72353	D	0.460960178516431	0.64829	4.746295	0.45234029935032	0.64866	4.752143	0.999999999999999	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	4.21	4.21	0.48984	4.630000	0.60995	11.304000	0.92346	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.442000	0.27716	0.1019:0.0:0.8981:0.0	9.386	0.37505	754	0.51307	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1387.98	35	chr16	788748	.	G	A	1387.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.02;DP=851;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=0.700;SOR=0.686	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,993	20	0	1	0
chr16	1079218	1079218	C	T	exonic	SSTR5	.	nonsynonymous SNV	SSTR5:NM_001053:exon1:c.C350T:p.T117M	Somatostatin analog, resistance to (3), Autosomal dominant, Somatic mutation	.	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.987	D	0.000	D	0.997	D	2.13	M	2.12	T	-0.894	T	0.142	T	0.764	3.910	19.88	4.87	2.260	7.602	16.982	0.344	0.0600191471603	.	0.00179712	0.0012	0	8.709e-05	0.0001	0	0.0002	0.0011	0.0079	0.0010931	169	154602	rs577188951	0.0009	0.0009	0.0007	0.0011	0.0082	0.0009	0.0008	0.0077	0.0075	8.963e-05	4.472e-05	0	0	0	0.0009	0.0005	0.0007	0.0082	0.0006	0.0006	0.0004	0.0008	0.0070	0.0005	0.0004	0.0052	0.0045	0.0001	0	0.0002	0	0	0	0	0.0006	0	0.0070	0.002	0.72154	D	0.014	0.62352	D	1.0	0.90584	D	0.987	0.77487	D	0.000002	0.62929	D	0.058518	0.996737	0.43384	D	1.745	0.45235	L	2.12	0.19726	T	-4.02	0.74269	D	0.649	0.66016	-0.8937	0.48605	T	0.142	0.46257	T	10	0.01292634	0.00276	T	0.060019	0.67862	D	0.344	0.66582	.	.	0.632893766264	0.62988	0.5162402222556828	0.51547	0.830302522001	0.67596	0.592621028423	0.51864	T	0.476259	0.80697	T	-0.290399	0.09597	T	-0.184082	0.56143	T	0.0878093445013878	0.10956	T	0.927907	0.73422	D	0.5343479	0.69078	0.5666113	0.74914	0.5343479	0.69079	0.5666113	0.74914	-7.329	0.56401	T	.	.	0.196	0.41783	B	.	.	5.508829	0.91661	32	0.99894020542864037	0.96742	0.94578	0.61622	D	AEFGBHCI	0.914405	0.87771	D	0.756661377704807	0.83340	7.991454	0.71791070118661	0.83740	8.101445	0.999999996765892	0.74766	0.514905	0.20481	0	0.547309	0.14657	0	0.603688	0.36954	0	0.550183	0.17644	0	.	.	4.87	4.87	0.62877	4.861000	0.62666	4.770000	0.44768	0.596000	0.33519	0.998000	0.41325	1.000000	0.68203	0.797000	0.37605	0.0:1.0:0.0:0.0	16.982	0.86202	958	0.09170	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2374.98	125	chr16	1079218	.	C	T	2374.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.620e-01;DP=1805;ExcessHet=0.0000;FS=3.115;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=-1.500e-02;SOR=0.664	GT:AD:DP:GQ:PL	0/0:151,0:151:99:0,120,1800	20	0	1	0
chr16	1079584	1079584	G	A	exonic	SSTR5	.	nonsynonymous SNV	SSTR5:NM_001053:exon1:c.G716A:p.R239Q	Somatostatin analog, resistance to (3), Autosomal dominant, Somatic mutation	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.999	D	0.985	D	0.000	D	1.000	N	1.515	L	0.95	T	-0.690	T	0.209	T	0.473	2.609	14.69	4.76	2.202	5.843	16.746	0.294	0.0569555084875	.	.	4.29e-05	0	8.864e-05	0.0001	0	3.13e-05	0	6.187e-05	3.23e-05	5	154602	rs769269974	2.193e-05	2.326e-05	2.046e-05	2.343e-05	0.0002	1.587e-05	1.359e-05	0.0001	0.0001	0	4.486e-05	0	5.045e-05	0	0	7.202e-06	1.66e-05	0.0002	1.971e-05	1.97e-05	1.284e-05	2.69e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0.0002	0.005	0.63226	D	0.045	0.49390	D	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	0.66	0.16226	N	0.95	0.43279	T	-1.95	0.45222	N	0.323	0.36359	-0.6898	0.60917	T	0.209	0.56826	T	10	0.5288798	0.63068	D	0.056956	0.66792	D	0.294	0.61388	.	.	0.661789245089	0.65895	0.4365898396261131	0.43575	0.789193365158	0.65685	0.510379433632	0.40275	T	0.177243	0.52747	T	-0.259228	0.12991	T	-0.373471	0.36483	T	0.236194387078285	0.22243	T	0.855714	0.54342	D	0.6372826	0.74686	0.41037259	0.65299	0.6372826	0.74687	0.41037259	0.65299	-1.723	0.02290	T	.	.	0.136	0.29642	B	.	.	5.172849	0.86713	29.0	0.99887630209126488	0.96204	0.72601	0.35530	D	AEFBCI	0.483847	0.52411	N	0.404260524082208	0.61655	4.369645	0.309774832582284	0.56114	3.774322	0.999838859472644	0.43792	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.76	4.76	0.60189	4.962000	0.63395	8.475000	0.77283	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.017000	0.10941	0.0:0.0:1.0:0.0	16.746	0.85333	958	0.09170	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1870.98	73	chr16	1079584	.	G	A	1870.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.68;DP=1554;ExcessHet=0.0000;FS=1.335;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=-5.970e-01;SOR=0.550	GT:AD:DP:GQ:PL	0/0:114,0:114:99:0,120,1800	20	0	1	0
chr16	1209290	1209290	G	A	exonic	CACNA1H	.	nonsynonymous SNV	CACNA1H:NM_001005407:exon17:c.G3622A:p.A1208T	Hyperaldosteronism, familial, type IV, Autosomal dominant	.	0	1517	5	0	0	5	0.00164528	.	.	465827	Idiopathic_generalized_epilepsy|Hyperaldosteronism,_familial,_type_IV|Epilepsy,_childhood_absence,_susceptibility_to,_6	MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669|MONDO:MONDO:0014875,MedGen:C4310756,OMIM:617027,Orphanet:642671|MONDO:MONDO:0012763,MedGen:C2749872,OMIM:611942,Orphanet:64280	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.62	T	0.011	B	0.009	B	0.018	N	1.000	N	0.41	N	-3.94	D	-0.037	T	0.514	D	0.037	-0.886	0.469	-8.39	-3.285	-2.316	9.146	0.220	.	0.0014	0.000798722	0.0016	0.0167	0.0012	0.0007	0	0.0012	0.0036	0	0.0004269	66	154602	rs58394372	0.0005	0.0005	0.0005	0.0005	0.0057	0.0005	0.0005	0.0051	0.0048	0.0057	0.0003	0	5.273e-05	5.182e-05	0	0.0004	0.0005	4.806e-05	0.0018	0.0018	0.0018	0.0017	0.0056	0.0016	0.0015	0.0050	0.0048	0.0056	0	0.0007	0	0.0002	0	0	0.0003	0.0009	0.0004	0.696	0.04251	T	0.389	0.16522	T	0.002	0.15914	B	0.001	0.14300	B	0.018438	0.01488	N	2.889280	1	0.08975	N	-0.465	0.02725	N	-3.99	0.96308	D	-1.0	0.26422	N	0.047	0.03283	-0.0373	0.81476	T	0.514	0.81777	D	10	0.006581396	0.00149	T	.	.	.	0.220	0.51569	.	.	0.483769296659	0.48008	0.365540941519567	0.36468	.	.	0.546550691128	0.45371	T	0.133317	0.46392	T	-0.461542	0.00962	T	-0.433554	0.29534	T	0.00315558114138277	0.00033	T	0.452755	0.12846	T	0.029495975	0.02453	0.039177645	0.03952	0.024772417	0.01343	0.039296158	0.03991	-4.649	0.33125	T	0.16034769823244002	0.19557	0.073	0.04477	B	.;.;.;.	.;.;.;.	-1.072843	0.00674	0.019	0.79706682422762676	0.12863	0.04149	0.09636	N	AEFBCI	0.078005	0.15727	N	-2.46438630787584	0.00019	0.0008337586	-2.54208967048494	0.00018	0.0008132571	0.225147536607599	0.18401	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.19	-8.39	0.00847	-3.418000	0.00531	-2.842000	0.03306	-1.769000	0.00667	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.443:0.0928:0.4642:0.0	9.146	0.36094	934	0.15400	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3100.98	34	chr16	1209290	.	G	A	3100.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.342e+00;DP=940;ExcessHet=0.0000;FS=23.923;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.20;ReadPosRankSum=0.479;SOR=0.459	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1293	20	0	1	0
chr16	1211262	1211262	T	G	exonic	CACNA1H	.	nonsynonymous SNV	CACNA1H:NM_001005407:exon22:c.T4318G:p.F1440V	Hyperaldosteronism, familial, type IV, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.998	D	0.000	D	1.000	D	1.9	M	-4.76	D	1.080	D	0.948	D	0.777	4.504	24.2	4.35	1.953	7.607	13.137	0.888	0.314113881904	.	0.000199681	2.499e-05	0.0001	0	0	0	1.513e-05	0	6.057e-05	2.59e-05	4	154602	rs545262024	1.643e-05	1.642e-05	1.771e-05	1.514e-05	2.987e-05	1.111e-05	9.34e-06	1.378e-05	1.151e-05	2.987e-05	0	0	0	0	0	2.069e-05	0	0	1.313e-05	1.312e-05	2.569e-05	0	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0	0	0	0	0	0.0002	0.022	0.48642	D	0.0	0.92824	D	0.855	0.47121	P	0.866	0.61580	P	0.000000	0.84330	D	0.000000	0.99998	0.54805	D	1.66	0.42513	L	-4.76	0.98111	D	-6.66	0.92302	D	0.724	0.80083	1.080	0.98868	D	0.948	0.98304	D	10	0.90611583	0.89976	D	0.314114	0.91276	D	0.888	0.96762	.	.	0.959118551356	0.95868	0.8658086642005681	0.86545	.	.	0.893494367599	0.95688	D	0.800465	0.94906	D	0.204162	0.74280	D	0.292156	0.87806	D	0.911507189273834	0.56709	D	0.992501	0.97571	D	0.7517604	0.80970	0.62907887	0.78367	0.7517604	0.80972	0.62907887	0.78368	-16.72	0.98655	D	0.7690140817957412	0.85017	0.840	0.81771	P	.;.;.;.	.;.;.;.	4.306110	0.65784	24.9	0.99115933435182302	0.52854	0.94260	0.60603	D	AEFBHCI	0.915598	0.88061	D	0.509909459228806	0.67673	5.113234	0.48550234536948	0.67029	5.029632	0.998775082659284	0.37645	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.35	4.35	0.51454	7.760000	0.84095	7.871000	0.71963	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.670000	0.33251	0.0:0.0:0.0:1.0	13.137	0.58835	934	0.15400	Ion transport domain;Ion transport domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1822.98	98	chr16	1211262	.	T	G	1822.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.388e+00;DP=2292;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.92;ReadPosRankSum=-1.429e+00;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:107,0:107:99:.:.:0,120,1800	20	0	1	0
chr16	1211263	1211263	T	C	exonic	CACNA1H	.	nonsynonymous SNV	CACNA1H:NM_001005407:exon22:c.T4319C:p.F1440S	Hyperaldosteronism, familial, type IV, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.175	M	-5.04	D	1.085	D	0.973	D	0.885	4.431	23.6	4.35	1.953	7.607	13.137	0.974	0.231500646135	.	0.000199681	2.499e-05	0.0001	0	0	0	1.513e-05	0	6.057e-05	2.59e-05	4	154602	rs559236007	1.643e-05	1.642e-05	1.771e-05	1.514e-05	2.987e-05	1.111e-05	9.34e-06	1.378e-05	1.151e-05	2.987e-05	0	0	0	0	0	2.069e-05	0	0	1.313e-05	1.312e-05	2.569e-05	0	0.0002	2.18e-06	8.2e-07	.	.	2.404e-05	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.996	0.68779	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999974	0.53665	D	3.29	0.90338	M	-5.04	0.98594	D	-7.61	0.95366	D	0.809	0.89465	1.085	0.99049	D	0.973	0.99139	D	10	0.9565741	0.95024	D	0.231501	0.88279	D	0.974	0.99740	.	.	0.982926418448	0.98273	0.9302957194694857	0.93008	.	.	0.897963047028	0.96211	D	0.893473	0.97854	D	0.381863	0.88827	D	0.547412	0.95586	D	0.995326995849609	0.87221	D	0.990738	0.97157	D	0.9695337	0.98217	0.91282314	0.95889	0.9695337	0.98217	0.91282314	0.95890	-19.389	0.99887	D	0.8271413217512921	0.89882	0.973	0.90020	P	.;.;.;.	.;.;.;.	4.674399	0.74743	26.2	0.99863446373677556	0.94184	0.93446	0.58239	D	AEFBHCI	0.916963	0.88391	D	0.75728140112125	0.83379	8.001886	0.650115453188006	0.78620	6.912865	0.998775082659284	0.37645	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.35	4.35	0.51454	7.760000	0.84095	7.871000	0.71963	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.673000	0.33338	0.0:0.0:0.0:1.0	13.137	0.58835	934	0.15400	Ion transport domain;Ion transport domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1822.98	98	chr16	1211263	.	T	C	1822.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.288e+00;DP=2291;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.92;ReadPosRankSum=-1.519e+00;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:107,0:107:99:.:.:0,120,1800	20	0	1	0
chr16	1218513	1218513	C	T	exonic	CACNA1H	.	nonsynonymous SNV	CACNA1H:NM_001005407:exon32:c.C5731T:p.R1911C	Hyperaldosteronism, familial, type IV, Autosomal dominant	.	0	1518	4	0	0	4	0.00131579	.	.	726413	Idiopathic_generalized_epilepsy|Hyperaldosteronism,_familial,_type_IV	MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669|MONDO:MONDO:0014875,MedGen:C4310756,OMIM:617027,Orphanet:642671	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.982	D	0.034	U	0.703	N	1.625	L	-4.43	D	0.518	D	0.930	D	0.439	2.640	14.79	4.04	2.357	1.194	9.377	0.398	.	.	0.00239617	0.0028	0	0.0021	0	0	0	0.0052	0.0072	0.0005951	92	154602	rs552691524	0.0004	0.0004	0.0002	0.0006	0.0065	0.0004	0.0004	0.0061	0.0059	0	5.544e-05	0	5.556e-05	2.077e-05	0.0007	6.475e-06	0.0004	0.0065	0.0003	0.0003	0.0002	0.0005	0.0093	0.0003	0.0002	0.0072	0.0064	0	0	0.0002	0	0	0	0	2.94e-05	0	0.0093	0.001	0.78490	D	0.004	0.74150	D	0.999	0.90584	D	0.719	0.63802	P	0.034173	0.01782	U	3.319480	0.70344	0.30081	N	2.545	0.74286	M	-4.48	0.97606	D	-4.88	0.81350	D	0.562	0.67564	0.518	0.90803	D	0.930	0.97679	D	10	0.008921921	0.00202	T	.	.	.	0.398	0.71242	0.395	0.42099	0.949360324624	0.94882	0.4723891998403772	0.47157	.	.	0.64292550087	0.58980	T	0.646295	0.89212	D	-0.116752	0.33656	T	0.0635228	0.74478	D	0.138778761048033	0.16170	T	0.919908	0.71037	D	0.30532166	0.53378	0.19039263	0.42440	0.33645317	0.55995	0.16624339	0.38414	-9.62	0.71603	D	0.29008795351321365	0.38653	0.188	0.44834	B	.;.;.;.	.;.;.;.	4.782390	0.77526	26.7	0.99904510166658189	0.97576	0.38419	0.25984	N	AEFDBCI	0.223979	0.34826	N	0.268179766848634	0.54544	3.619637	0.186765535433201	0.49122	3.119213	0.077509986720715	0.15761	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.06	4.04	0.46262	2.460000	0.44689	3.892000	0.40300	0.599000	0.40250	0.981000	0.35396	0.999000	0.35428	0.352000	0.25704	0.161:0.6831:0.1559:0.0	9.377	0.37451	929	0.16858	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2979.98	42	chr16	1218513	.	C	T	2979.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.948;DP=1162;ExcessHet=0.0000;FS=0.521;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.90;ReadPosRankSum=1.87;SOR=0.737	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr16	1228762	1228762	G	A	exonic	TPSB2	.	nonsynonymous SNV	TPSB2:NM_024164:exon6:c.C716T:p.A239V,	.	.	442	1078	2	0	0	2	0.000926784	.	.	2810765	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.87	T	0.955	P	0.144	B	0.014	N	1.000	N	.	.	-2.2	D	-0.630	T	0.238	T	0.284	-1.096	0.146	1.76	0.716	0.752	5.365	0.216	0.0391921706305	0.0019	0.000998403	0.0021	0.0007	0.0008	0	0.0008	0.0021	0	0.0052	0.0014424	223	154602	rs377518279	0.0023	0.0023	0.0022	0.0023	0.0043	0.0022	0.0022	0.0039	0.0038	0.0005	0.0007	0.0002	2.598e-05	0.0008	0.0002	0.0024	0.0018	0.0043	0.0015	0.0017	0.0016	0.0014	0.0024	0.0013	0.0012	0.0021	0.0020	0.0006	0	0.0011	0.0006	0	0.0004	0	0.0024	0	0.0006	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	0.013571	0.28799	N	0.162599	0.999953	0.19072	N	.	.	.	.	.	.	.	.	.	0.167	0.17691	-0.6302	0.63562	T	0.238	0.60499	T	9	0.0325495	0.01409	T	0.039192	0.58670	D	.	.	.	.	0.0716867268079	0.06686	0.26890481414157447	0.26803	.	.	0.407631844282	0.26128	T	.	.	.	-0.315429	0.07279	T	-0.225739	0.52182	T	0.0206872950787928	0.00768	T	0.858314	0.54891	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.45738	B	.;.	.;.	1.026983	0.14066	10.64	0.7093993899100236	0.09462	0.16731	0.19523	N	AEFGI	0.041476	0.06309	N	-0.433548995678859	0.24301	1.311179	-0.491490558151285	0.22387	1.215694	0.00129884366857155	0.08419	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.062806	0.01542	0	.	.	3.8	1.76	0.23776	0.072000	0.14482	-1.339000	0.05677	0.522000	0.23927	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.3609:0.0:0.6391:0.0	5.365	0.15410	923	0.18507	.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	175.98	92	chr16	1228762	.	G	A	175.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.080e-01;DP=1428;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.09;MQRankSum=0.152;QD=1.52;ReadPosRankSum=-1.740e-01;SOR=0.689	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	20	0	1	0
chr16	1228926	1228926	C	T	exonic	TPSB2	.	nonsynonymous SNV	TPSB2:NM_024164:exon5:c.G637A:p.G213R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.98	D	0.000	D	0.573	D	.	.	-2.73	D	0.953	D	0.824	D	0.845	4.266	22.3	3.79	1.842	2.082	13.502	0.662	0.436263652133	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1347218872	3.631e-05	5.36e-05	3.517e-05	3.734e-05	6.562e-05	2.124e-05	1.659e-05	2.779e-05	2.157e-05	0	6.562e-05	0	0	0	0	5e-05	5.133e-05	0	0	2.235e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.054	0.48080	T	.	.	.	.	.	.	0.000224	0.47286	D	0.000000	0.573062	0.32310	D	.	.	.	.	.	.	.	.	.	0.3	0.35408	0.953	0.96442	D	0.824	0.94079	D	9	0.950441	0.94379	D	0.436264	0.94078	D	.	.	0.913	0.98308	0.277730125212	0.27379	0.4818097992643128	0.48100	.	.	0.702368736267	0.67487	T	.	.	.	0.439652	0.92006	D	0.393753	0.91907	D	0.987320184707642	0.77842	D	0.887111	0.61484	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.927	0.84763	P	.;.	.;.	3.388956	0.46908	22.4	0.99842036853292215	0.92229	0.84388	0.43470	D	AEFGI	0.261296	0.37928	N	0.15376521369477	0.48989	3.104572	0.000403170442467432	0.39735	2.360531	0.991900497654993	0.32650	0.080785	0.02172	0	0.063388	0.01293	0	0.121075	0.03231	0	0.062806	0.01542	0	.	.	3.79	3.79	0.42757	3.022000	0.49342	0.409000	0.18089	0.452000	0.21348	0.968000	0.34134	0.036000	0.21445	0.006000	0.07323	0.0:1.0:0.0:0.0	13.502	0.60914	923	0.18507	.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	34.62	2	chr16	1228926	.	C	T	34.62	.	AC=2;AF=0.071;AN=28;DP=26;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.1537;MLEAC=2;MLEAF=0.071;MQ=40.00;QD=34.62;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:5,0:5:15:.:.:0,15,169	13	1	0	7
chr16	1242128	1242128	C	T	exonic	TPSAB1	.	nonsynonymous SNV	TPSAB1:NM_003294:exon6:c.C716T:p.A239V,	.	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9	T	0.955	P	0.144	B	0.014	N	0.905	D	-1.185	N	-2.2	D	-0.628	T	0.159	T	0.45	-1.655	0.012	2.12	0.653	0.634	5.367	0.313	0.433241821357	.	0.000399361	0.0006	0.0004	0	0.0002	0	0.0001	0	0.0039	7.68e-05	2	26028	rs528808259	0.0002	0.0003	0.0001	0.0003	0.0031	0.0002	0.0002	0.0027	0.0026	0.0005	0	0	5.119e-05	0	0.0006	3.801e-05	0.0001	0.0031	0.0001	0.0002	0.0001	0.0001	0.0008	7.877e-05	6.322e-05	0.0001	0.0001	0.0003	0	0.0002	0	0	0	0	1.843e-05	0.0008	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.955	0.54515	P	0.144	0.33818	B	0.013571	0.28799	N	0.162599	0.905264	0.36271	D	-0.29	0.03673	N	-2.2	0.86888	D	0.73	0.02518	N	0.203	0.22486	-0.6284	0.63639	T	0.159	0.49346	T	10	0.11104089	0.20779	T	0.433242	0.94022	D	0.313	0.63482	.	.	0.267299060538	0.26338	0.43449987858078915	0.43366	2.37714289507	0.96994	0.445918679237	0.31387	T	0.204264	0.56298	T	-0.334636	0.05769	T	-0.257136	0.49110	T	0.0262940857280014	0.01445	T	0.858314	0.54891	D	0.04923348	0.08710	0.042608526	0.05114	0.04923348	0.08709	0.042608526	0.05113	-6.077	0.46919	T	.	.	0.217	0.44630	B	.;.;.	.;.;.	0.713020	0.10821	7.500	0.18322089282069842	0.00571	0.25834	0.22816	N	AEFI	0.114589	0.22564	N	-0.973644511028651	0.09169	0.4328615	-0.97730152549505	0.10296	0.5176444	1.34269192740841E-5	0.02871	0.497415	0.19182	0	0.547309	0.14657	0	0.59043	0.30614	0	0.613276	0.41899	0	.	.	3.08	2.12	0.26372	0.952000	0.28747	-20.000000	0.00162	-0.469000	0.05095	0.332000	0.25606	0.000000	0.08366	0.006000	0.07323	0.0:0.7292:0.0:0.2707	5.367	0.15423	906	0.23090	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	544.98	27	chr16	1242128	.	C	T	544.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.969e+00;DP=1265;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=37.59;MQRankSum=0.089;QD=4.70;ReadPosRankSum=0.645;SOR=0.070	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1470	20	0	1	0
chr16	1338575	1338575	G	C	exonic	BAIAP3	.	nonsynonymous SNV	BAIAP3:NM_001199096:exon2:c.G26C:p.S9T	.	.	.	.	.	.	.	.	.	.	.	2377065	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.4	T	0.998	D	0.989	D	0.000	D	0.514	D	1.78	L	-0.85	T	-0.022	T	0.517	D	0.318	4.235	22.0	4.01	2.244	2.391	11.818	0.275	0.283425182867	.	.	4.3e-05	0	0	0	0	7.655e-05	0	0	2.59e-05	4	154602	rs778099100	2.949e-05	2.941e-05	3.138e-05	2.758e-05	0.0006	2.222e-05	1.975e-05	0.0001	7.971e-05	0.0001	0	0	0	0	0.0006	2.881e-05	4.98e-05	1.166e-05	1.975e-05	1.971e-05	2.573e-05	1.348e-05	2.941e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.513748	0.31840	D	2.47	0.71715	M	-0.85	0.85875	T	-1.07	0.31170	N	0.438	0.57263	-0.0219	0.81800	T	0.517	0.81946	D	10	0.32610685	0.49912	T	0.283425	0.90312	D	0.275	0.59130	0.179	0.08626	0.919509768602	0.91869	0.5019554868937898	0.50117	0.4403143847	0.44044	0.58450371027	0.50719	T	0.015525	0.13004	T	-0.0946415	0.37309	T	-0.174729	0.57009	T	0.41522902704126	0.29513	T	0.79652	0.59504	T	0.53212565	0.68951	0.5074389	0.71533	0.53212565	0.68952	0.5074389	0.71533	-4.48	0.30836	T	.	.	0.274	0.54926	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.026005	0.59503	24.1	0.99635246520776688	0.76326	0.64570	0.32450	D	AEFDBCI	0.399949	0.47503	N	0.420743365747856	0.62563	4.474322	0.375531536611118	0.60061	4.189538	0.998531431432562	0.37148	0.533608	0.22052	0	0.61073	0.52368	0	0.491614	0.08109	1	0.584449	0.35598	0	.	.	4.01	4.01	0.45821	0.961000	0.28864	8.489000	0.77323	0.618000	0.50648	0.009000	0.18154	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	11.818	0.51495	872	0.31118	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1123.98	37	chr16	1338575	.	G	C	1123.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.730e-01;DP=861;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.37;ReadPosRankSum=-1.349e+00;SOR=0.704	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1089	20	0	1	0
chr16	1338665	1338665	C	G	exonic	BAIAP3	.	nonsynonymous SNV	BAIAP3:NM_001199096:exon2:c.C116G:p.P39R	.	.	420	1100	1	1	0	3	0.00136178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.888	N	0.808	N	1.7	L	-1.03	T	-0.143	T	0.657	D	0.441	2.694	14.97	3.74	1.084	1.101	11.197	0.284	0.249169989165	.	0.000199681	0.0008	0	0	0	0	0	0.0028	0.0033	0.0002781	43	154602	rs534123581	0.0001	0.0001	5.398e-05	0.0002	0.0019	0.0001	9.535e-05	0.0017	0.0016	0	0	0	0	0	0	9.093e-07	0.0001	0.0019	6.565e-05	6.561e-05	5.14e-05	8.055e-05	0.0014	3.514e-05	2.614e-05	0.0007	0.0005	2.406e-05	0	0	0	0	0	0.0034	0	0.0005	0.0014	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.888300	0.08705	N	0.946095	0.808151	0.29034	N	2.505	0.72935	M	-1.03	0.92829	T	-2.11	0.57435	N	0.396	0.49602	-0.1426	0.79101	T	0.657	0.88092	D	10	0.014235109	0.00300	T	0.24917	0.89040	D	0.284	0.60219	0.199	0.11247	0.87612316629	0.87491	0.28862324165579284	0.28775	0.347362746263	0.36628	0.488053053617	0.37169	T	0.021852	0.16945	T	-0.170804	0.25112	T	-0.0249084	0.68706	D	0.180117272361428	0.19243	T	0.810219	0.47089	T	0.13220379	0.30791	0.30355772	0.56386	0.13220379	0.30791	0.30355772	0.56385	-4.43	0.30136	T	.	.	0.092	0.16756	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.444258	0.47929	22.5	0.98699066081550135	0.44881	0.43392	0.27088	N	AEFDBCI	0.227346	0.35117	N	-0.420573145578364	0.24749	1.338546	-0.474849070481123	0.22849	1.243123	0.45606087003721	0.20583	0.646311	0.45356	0	0.657636	0.61667	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.71	3.74	0.42108	2.646000	0.46296	3.865000	0.40157	0.549000	0.26987	0.896000	0.31333	0.999000	0.35428	0.012000	0.09680	0.0:0.8136:0.1864:0.0	11.197	0.47947	872	0.31118	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1032.98	37	chr16	1338665	.	C	G	1032.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.272e+00;DP=825;ExcessHet=0.0000;FS=10.415;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.35;ReadPosRankSum=-3.260e-01;SOR=0.292	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1089	20	0	1	0
chr16	1346908	1346908	C	T	exonic	BAIAP3	.	nonsynonymous SNV	BAIAP3:NM_001199096:exon27:c.C2596T:p.R866C	.	.	406	1113	3	0	0	3	0.0013459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.997	D	0.729	P	0.496	N	1.000	D	2.175	M	-0.98	T	-0.450	T	0.451	T	0.402	1.573	11.22	0.85	0.395	0.556	6.688	0.359	0.0821646897228	0.0002	0.000599042	0.0004	0	0.0006	0	0	0.0005	0	0.0003	0.0003169	49	154602	rs116274850	0.0005	0.0005	0.0005	0.0005	0.0008	0.0005	0.0004	0.0006	0.0005	8.963e-05	0.0008	7.656e-05	0	3.892e-05	0.0005	0.0006	0.0004	0.0001	0.0006	0.0006	0.0005	0.0007	0.0027	0.0005	0.0005	0.0020	0.0018	4.813e-05	0	0.0027	0	0	0	0	0.0007	0	0.0004	0.052	0.39097	T	0.016	0.60972	D	0.997	0.70673	D	0.729	0.55225	P	0.496241	0.05065	N	1.421560	0.999934	0.51612	D	1.73	0.44655	L	-0.98	0.75789	T	-3.61	0.69477	D	0.424	0.46368	-0.4495	0.70417	T	0.451	0.78520	T	10	0.04711619	0.03987	T	0.082165	0.73840	D	0.359	0.67962	.	.	0.824980720029	0.82332	0.26559136553935786	0.26472	0.376668924193	0.39101	0.480328381062	0.36102	T	0.194118	0.54980	T	-0.305569	0.08145	T	-0.293488	0.45409	T	0.0884371708955625	0.11030	T	0.879712	0.59601	D	0.10100665	0.23855	0.09175956	0.21590	0.10100665	0.23854	0.09175956	0.21589	-8.29	0.64184	D	.	.	0.086	0.16275	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.849300	0.37614	20.5	0.99649802760957107	0.77192	0.41677	0.26710	N	AEFDBHCI	0.252190	0.37192	N	-0.220396396350516	0.32298	1.819962	-0.424824769252851	0.24271	1.328179	0.999996724761211	0.74766	0.653496	0.48692	0	0.550933	0.16991	0	0.596874	0.31795	0	0.664235	0.64389	0	.	.	4.42	0.85	0.18119	-0.371000	0.07569	1.305000	0.25500	0.599000	0.40250	0.000000	0.06391	0.834000	0.27239	0.003000	0.05239	0.5796:0.2918:0.1286:0.0	6.688	0.22345	862	0.33134	.;.;.;.;Mammalian uncoordinated homology 13, domain 2;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1232.98	110	chr16	1346908	.	C	T	1232.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=888;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=-4.570e-01;SOR=0.701	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1266	20	0	1	0
chr16	1367824	1367824	A	C	exonic	UNKL	.	nonsynonymous SNV	UNKL:NM_001193389:exon4:c.T117G:p.F39L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.999	D	0.997	D	.	.	1.000	D	2.515	M	-0.22	T	-0.287	T	0.425	T	0.624	4.663	25.7	-2.49	-0.572	0.336	10.331	0.310	0.164488103893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.91255	T	0.0	0.92824	D	0.999	0.77913	D	0.997	0.86255	D	.	.	.	.	0.998769	0.45406	D	.	.	.	-0.23	0.66652	T	-4.07	0.89534	D	0.501	0.53620	-0.2873	0.75340	T	0.425	0.76910	T	9	0.35302576	0.52118	T	0.164488	0.84358	D	0.310	0.63162	0.232	0.16005	0.250579442822	0.24687	.	.	0.35949799997	0.37640	0.855580925941	0.90454	D	0.172725	0.52133	T	0.073117	0.61225	D	-0.132749	0.60741	T	0.987381994724274	0.77891	D	0.953605	0.85587	D	.	.	.	.	.	.	.	.	-7.296	0.56167	T	.	.	0.973	0.92114	P	.;.;.;.;.;.	.;.;.;.;.;.	3.141921	0.42498	21.5	0.99725509566138715	0.82336	0.68956	0.33999	D	AEFDBHCI	0.364989	0.45333	N	0.147240433242267	0.48681	3.07745	-0.00505165804969017	0.39487	2.341984	0.996710019658257	0.34950	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.96	-2.49	0.06034	0.880000	0.27798	-0.165000	0.11284	0.754000	0.88378	1.000000	0.71638	0.005000	0.19230	0.999000	0.91618	0.4987:0.0:0.5013:0.0	10.331	0.43003	846	0.36215	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1015.98	36	chr16	1367824	.	A	C	1015.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.26;DP=823;ExcessHet=0.0000;FS=1.920;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=0.219;SOR=0.936	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr16	1397277	1397277	A	0	exonic	UNKL	.	.	.	.	.	28	20	70	25	83	203	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7188	9454.15	31	chr16	1397277	.	A	*,G	9454.15	.	AC=19,8;AF=0.594,0.250;AN=32;BaseQRankSum=1.91;DP=1633;ExcessHet=0.0731;FS=2.741;InbreedingCoeff=0.3875;MLEAC=24,10;MLEAF=0.750,0.313;MQ=59.56;MQRankSum=-2.830e-01;QD=10.82;ReadPosRankSum=1.63;SOR=0.444	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:81,0,0:81:0:.:.:0,0,0,0,0,0	1	6	3	5
chr16	1397281	1397281	G	0	exonic	UNKL	.	.	.	.	.	375	758	197	191	1	580	0.276372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	664.37	55	chr16	1397281	.	G	*,GGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT	664.37	.	AC=15,1;AF=0.441,0.029;AN=34;DP=1272;ExcessHet=0.0000;FS=6.118;InbreedingCoeff=0.6818;MLEAC=18,1;MLEAF=0.529,0.029;MQ=59.20;QD=1.28;SOR=0.304	GT:AD:DP:GQ:PL	0/0:50,0,0:50:99:0,108,1620,108,1620,1620	8	6	2	4
chr16	1397281	1397281	-	GGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT	exonic	UNKL	.	frameshift insertion	UNKL:NM_001193388:exon6:c.748_749insACAGCGTGAAGCACGGGGGTGGTGGGGGGAGCCAAGTCCTCTGTGTCCCCCTGACACCTCCTCATCCCCAGGTCCACGCCCTGCC:p.P250Hfs*36	.	.	375	758	197	191	1	580	0.276372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0.0036	0	0	0	0.0123	0	0	.	.	.	.	0.0072	0.0076	0.0067	0.0078	0.0160	0.0071	0.0070	0.0121	0.0108	0.0013	0.0130	0.0177	4.298e-05	0.0111	0.0160	0.0069	0.0118	0.0097	0.0064	0.0087	0.0069	0.0058	0.0114	0.0059	0.0058	0.0105	0.0101	0.0016	0.0156	0.0080	0.0172	0	0.0022	0.0061	0.0114	0.0040	0.0026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	664.37	55	chr16	1397281	.	G	*,GGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT	664.37	.	AC=15,1;AF=0.441,0.029;AN=34;DP=1272;ExcessHet=0.0000;FS=6.118;InbreedingCoeff=0.6818;MLEAC=18,1;MLEAF=0.529,0.029;MQ=59.20;QD=1.28;SOR=0.304	GT:AD:DP:GQ:PL	0/0:50,0,0:50:99:0,108,1620,108,1620,1620	8	6	2	4
chr16	1414642	1414642	G	C	exonic	UNKL	.	nonsynonymous SNV	UNKL:NM_001037125:exon1:c.C50G:p.P17R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.742	P	0.238	B	0.000	U	1.000	D	1.245	L	-0.06	T	-0.879	T	0.136	T	0.191	0.637	7.423	1.41	1.284	4.043	6.365	0.114	0.801690134311	.	.	7.961e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs779058744	0.0001	0.0001	9.557e-05	0.0001	0.0001	9.168e-05	8.546e-05	0.0001	9.376e-05	0	0	0.0002	0	0	0	0.0001	6.009e-05	2.792e-05	0.0001	0.0001	7.907e-05	0.0001	0.0001	6.181e-05	5.018e-05	7.067e-05	5.205e-05	4.876e-05	0	6.713e-05	0.0009	0	0	0	0.0001	0	0	0.006	0.65419	D	0.008	0.67890	D	0.742	0.43019	P	0.238	0.38539	B	0.000015	0.62929	U	0.000000	0.94394	0.37429	D	1.525	0.38595	L	-0.06	0.63568	T	-1.87	0.43717	N	0.478	0.53357	-0.8791	0.49833	T	0.136	0.45126	T	10	0.2967814	0.47241	T	0.80169	0.98449	D	0.114	0.32008	0.186	0.09517	0.380223377699	0.37629	0.6158816437977065	0.61520	1.3006740423	0.83010	0.847922384739	0.89300	D	0.022166	0.17138	T	-0.231594	0.16438	T	-0.375474	0.36250	T	0.180611970692741	0.19273	T	0.575442	0.20674	T	.	.	.	.	.	.	.	.	-7.057	0.54449	T	.	.	0.408	0.60025	A	.;.;.	.;.;.	4.155773	0.62368	24.4	0.95763759658754533	0.27757	0.86577	0.45886	D	ALL	0.345860	0.44087	N	-0.0789195486139448	0.38318	2.242404	-0.0947121966396071	0.35609	2.062138	0.999999982735994	0.74766	0.685219	0.55550	0	0.218748	0.04544	0	0.674405	0.61402	0	0.249971	0.05119	0	.	.	2.41	1.41	0.21461	4.115000	0.57608	4.355000	0.43100	0.413000	0.20698	1.000000	0.71638	1.000000	0.68203	0.325000	0.25087	0.1716:0.0:0.8284:0.0	6.365	0.20652	759	0.50631	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	464.98	35	chr16	1414642	.	G	C	464.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.109e+00;DP=763;ExcessHet=0.0000;FS=1.414;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.09;ReadPosRankSum=-1.569e+00;SOR=0.469	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,100,833	20	0	1	0
chr16	1432705	1432707	GAG	-	exonic	PERCC1	.	nonframeshift deletion	PERCC1:NM_001365310:exon2:c.112_114del:p.E47del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3063.65	15	chr16	1432701	.	AGAGGAG	AGAG,A,AGAGGAGGAG	3063.65	.	AC=9,1,1;AF=0.214,0.024,0.024;AN=42;BaseQRankSum=-1.580e-01;DP=320;ExcessHet=0.4237;FS=0.000;InbreedingCoeff=0.1368;MLEAC=9,1,1;MLEAF=0.214,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=24.51;ReadPosRankSum=-6.010e-01;SOR=0.734	GT:AD:DP:GQ:PL	0/1:2,3,0,0:5:73:115,0,73,121,82,203,121,82,203,203	12	1	6	0
chr16	1432707	1432707	-	GAG	exonic	PERCC1	.	nonframeshift insertion	PERCC1:NM_001365310:exon2:c.114_115insGAG:p.E47_G48insE,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3063.65	15	chr16	1432701	.	AGAGGAG	AGAG,A,AGAGGAGGAG	3063.65	.	AC=9,1,1;AF=0.214,0.024,0.024;AN=42;BaseQRankSum=-1.580e-01;DP=320;ExcessHet=0.4237;FS=0.000;InbreedingCoeff=0.1368;MLEAC=9,1,1;MLEAF=0.214,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=24.51;ReadPosRankSum=-6.010e-01;SOR=0.734	GT:AD:DP:GQ:PL	0/1:2,3,0,0:5:73:115,0,73,121,82,203,121,82,203,203	12	1	6	0
chr16	1495588	1495588	T	C	exonic	TELO2	.	nonsynonymous SNV	TELO2:NM_001351846:exon3:c.T578C:p.V193A	You-Hoover-Fong syndrome, Autosomal recessive	.	431	1062	27	2	0	31	0.0143852	.	.	714745	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.26	T	0.049	B	0.015	B	0.376	N	0.999	N	1.39	L	-1.85	D	-0.678	T	0.357	T	0.125	1.590	11.27	4.23	0.866	1.466	10.075	0.112	.	0.0035	0.00499201	0.0063	0.0007	0.0027	0.0001	0.0003	0.0061	0.0057	0.0194	0.0056597	875	154602	rs141647559	0.0046	0.0046	0.0040	0.0052	0.0191	0.0045	0.0044	0.0184	0.0180	0.0005	0.0027	0.0169	2.532e-05	0.0011	0.0129	0.0036	0.0050	0.0191	0.0035	0.0035	0.0032	0.0039	0.0193	0.0033	0.0032	0.0161	0.0149	0.0006	0	0.0036	0.0170	0.0004	9.411e-05	0.0510	0.0041	0.0043	0.0193	0.039	0.42487	D	0.013	0.63109	D	0.049	0.22227	B	0.015	0.17295	B	0.375640	0.13462	N	0.708276	0.999224	0.21485	N	2.2	0.62015	M	-1.85	0.84267	D	-1.65	0.39503	N	0.068	0.04072	-0.6777	0.61479	T	0.357	0.71936	T	10	0.0053475797	0.00117	T	.	.	.	0.112	0.31546	.	.	0.513280433867	0.50970	0.23863046180916195	0.23777	0.144146784678	0.16276	0.305148303509	0.11173	T	0.073178	0.34635	T	-0.420889	0.01688	T	-0.362418	0.37772	T	0.015313074487058	0.00339	T	0.393061	0.09795	T	0.037355676	0.04774	0.05269088	0.08732	0.037355676	0.04773	0.05269088	0.08731	-2.494	0.05740	T	0.2086841170818422	0.27921	0.161	0.35622	B	.	.	1.256583	0.16537	12.60	0.84911635918903006	0.15571	0.53282	0.29334	D	AEFBCI	0.158386	0.28403	N	-0.709159317435632	0.15763	0.7972947	-0.709327222228478	0.16728	0.8863125	0.999998197357522	0.74766	0.706548	0.73137	0	0.606735	0.50208	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	5.33	4.23	0.49319	1.493000	0.35214	1.873000	0.29400	-0.109000	0.15193	0.004000	0.16614	0.026000	0.21063	0.021000	0.11733	0.0:0.0807:0.0:0.9192	10.075	0.41526	779	0.47767	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	718.98	33	chr16	1495588	.	T	C	718.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.780e-01;DP=807;ExcessHet=0.0000;FS=2.490;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.67;ReadPosRankSum=-2.224e+00;SOR=0.396	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1141	20	0	1	0
chr16	1502979	1502979	C	T	exonic	TELO2	.	nonsynonymous SNV	TELO2:NM_001351846:exon15:c.C1819T:p.R607W	You-Hoover-Fong syndrome, Autosomal recessive	.	403	1115	4	0	0	4	0.00179051	.	.	739971	TELO2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.17	T	1.0	D	0.997	D	0.000	D	1.000	D	2.045	M	2.46	T	-1.078	T	0.103	T	0.814	4.298	22.5	4.07	2.391	1.052	13.918	0.238	0.029947810358	0.0007	0.000998403	0.0011	0.0002	8.649e-05	0	0.0027	0.0012	0.0022	0.0021	0.0010673	165	154602	rs146401595	0.0013	0.0013	0.0013	0.0014	0.0023	0.0013	0.0013	0.0020	0.0019	0.0001	0	0.0004	5.038e-05	0.0032	0.0009	0.0013	0.0016	0.0023	0.0010	0.0010	0.0010	0.0011	0.0025	0.0009	0.0008	0.0014	0.0012	0.0002	0.0022	0.0001	0	0	0.0026	0	0.0015	0	0.0025	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.053478	1	0.81001	D	3.02	0.86243	M	2.46	0.14907	T	-4.86	0.81187	D	0.787	0.78356	-1.0784	0.07661	T	0.103	0.37944	T	10	0.08461255	0.14200	T	0.029948	0.52359	D	0.238	0.54217	.	.	0.606390081608	0.60323	0.6570984188015603	0.65646	0.225725488836	0.25122	0.634698808193	0.57811	T	0.636078	0.88781	D	-0.247201	0.14443	T	-0.134031	0.60630	T	0.127488767257925	0.15148	T	0.962504	0.85970	D	0.84424126	0.86913	0.79469514	0.87938	0.8582114	0.87952	0.77855957	0.86942	-9.907	0.73353	D	0.9130759498998986	0.96042	0.138	0.30211	B	.	.	5.212444	0.87464	29.2	0.99917721048885544	0.98518	0.71194	0.34909	D	AEFBCI	0.557762	0.56726	D	0.438528092761829	0.63556	4.591517	0.380964859572495	0.60390	4.226235	0.991143897808924	0.32388	0.706548	0.73137	0	0.697927	0.68747	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.09	4.07	0.46726	1.488000	0.35160	2.644000	0.33772	0.596000	0.33519	0.831000	0.30147	0.991000	0.31484	0.987000	0.62547	0.0:0.8464:0.1536:0.0	13.918	0.63419	774	0.48577	Telomere length regulation protein, conserved domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2179.98	39	chr16	1502979	.	C	T	2179.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=928;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=-7.050e-01;SOR=0.729	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1371	20	0	1	0
chr16	1518220	1518220	T	G	exonic	IFT140	.	nonsynonymous SNV	IFT140:NM_014714:exon30:c.A4178C:p.Q1393P,	Short-rib thoracic dysplasia 9 with or without polydactyly, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.01	B	0.008	B	0.059	N	0.999	D	1.32	L	1.48	T	-0.912	T	0.162	T	0.638	2.922	15.74	4.68	1.743	5.972	14.132	0.207	0.0401979175985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.30097	T	0.264	0.59732	T	0.01	0.15535	B	0.008	0.13708	B	0.058663	0.22384	N	0.398391	0.998496	0.45620	D	1.7	0.43825	L	1.48	0.58755	T	-1.85	0.43334	N	0.681	0.69300	-0.9116	0.46657	T	0.162	0.49731	T	10	0.45926154	0.59183	T	0.040198	0.59241	D	0.207	0.49555	0.523	0.62668	0.711946693247	0.70942	0.6734111730957614	0.67279	0.0901911323715	0.10174	0.319820165634	0.13394	T	0.013612	0.39186	T	0.0338565	0.56235	T	-0.189144	0.55671	T	0.862023293972015	0.51236	D	0.470053	0.13966	T	0.4943921	0.66764	0.30768535	0.56789	0.4943921	0.66765	0.30768535	0.56789	-4.362	0.29037	T	0.2354730228635941	0.31884	0.081	0.11606	B	.;.;.	.;.;.	2.706477	0.35366	19.88	0.99102379390544693	0.52496	0.97663	0.76248	D	AEFBHCI	0.823748	0.74379	D	-0.140784084576799	0.35627	2.048869	-0.0118988806091032	0.39176	2.318918	0.999926375289998	0.46280	0.615465	0.37627	0	0.633656	0.55848	0	0.606735	0.37207	0	0.655142	0.61905	0	.	.	4.68	4.68	0.58319	5.953000	0.70008	2.809000	0.34897	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.330000	0.25202	0.0:0.0:0.0:1.0	14.132	0.64793	809	0.43032	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	882.98	78	chr16	1518220	.	T	G	882.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.400e-01;DP=807;ExcessHet=0.0000;FS=6.011;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.93;MQRankSum=-9.240e-01;QD=11.32;ReadPosRankSum=-1.161e+00;SOR=1.422	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1456	20	0	1	0
chr16	1526773	1526773	G	A	exonic	IFT140	.	nonsynonymous SNV	IFT140:NM_014714:exon20:c.C2423T:p.A808V,	Short-rib thoracic dysplasia 9 with or without polydactyly, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	340663	Saldino-Mainzer_syndrome|Retinitis_pigmentosa_80|Inborn_genetic_diseases	MONDO:MONDO:0009964,MedGen:C1849437,OMIM:266920,Orphanet:140969|MONDO:MONDO:0054708,MedGen:C4540439,OMIM:617781|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.987	D	0.000	D	1.000	D	3.295	M	0.43	T	0.074	D	0.441	T	0.96	5.650	36	5.23	2.459	9.781	16.972	0.677	0.0812855212867	.	.	1.097e-05	0	0	0	0	1.951e-05	0	0	1.29e-05	2	154602	rs748463111	1.989e-05	2.257e-05	2.456e-05	1.517e-05	4.5e-05	1.396e-05	1.207e-05	1.461e-05	1.228e-05	0	4.5e-05	0	2.525e-05	0	0	2.16e-05	0	2.337e-05	1.971e-05	1.97e-05	2.568e-05	1.345e-05	6.54e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.54e-05	0	0	0	0	2.939e-05	0	0	0.003	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.971	0.72444	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.695	0.94570	H	0.43	0.56772	T	-3.97	0.73684	D	0.963	0.97961	0.074	0.83691	D	0.441	0.77928	T	10	0.86759317	0.86009	D	0.081286	0.73650	D	0.677	0.88109	0.505	0.59924	0.908115824376	0.90720	0.796690024452675	0.79622	0.403020458335	0.41251	0.761928498745	0.76216	T	0.403283	0.76008	T	0.361834	0.87395	D	0.281973	0.87231	D	0.990533828735352	0.80756	D	0.952105	0.84340	D	0.77181286	0.82157	0.67239964	0.80773	0.77181286	0.82159	0.67239964	0.80774	-9.617	0.71585	D	0.7429413272088492	0.82503	0.807	0.82201	P	.;.	.;.	5.823751	0.93710	33	0.99940870300669205	0.99797	0.99026	0.90144	D	AEFDBI	0.906724	0.85985	D	0.999058538062853	0.95715	13.89155	0.929388847851298	0.96731	15.07002	0.999999999999153	0.74766	0.653281	0.48532	0	0.633656	0.55848	0	0.723109	0.80598	0	0.669	0.65921	0	.	.	5.23	5.23	0.72570	9.914000	0.98694	11.647000	0.93845	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.936000	0.47498	0.0:0.0:1.0:0.0	16.972	0.86174	825	0.40060	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	803.98	36	chr16	1526773	.	G	A	803.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.150;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=0.417;SOR=0.693	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	20	0	1	0
chr16	1625985	1625985	G	T	exonic	CRAMP1	.	nonsynonymous SNV	CRAMP1:NM_020825:exon3:c.G359T:p.G120V,	.	.	414	1062	45	1	0	47	0.021649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.047	B	0.039	B	0.715	U	1.000	D	0.805	L	1.6	T	-1.119	T	0.047	T	0.315	2.009	12.68	4.03	0.865	3.439	9.831	0.044	.	0.0022	0.00439297	0.0087	0.0009	0.0122	0	0	0.0054	0.0053	0.0151	0.0015977	247	154602	rs150953427	0.0027	0.0026	0.0022	0.0031	0.0200	0.0026	0.0026	0.0170	0.0159	0.0013	0.0026	0.0125	5.597e-05	2.031e-05	0.0200	0.0015	0.0050	0.0159	0.0020	0.0020	0.0018	0.0021	0.0166	0.0018	0.0017	0.0137	0.0126	0.0003	0	0.0022	0.0121	0	0	0.0068	0.0018	0.0047	0.0166	0.003	0.68238	D	0.006	0.70582	D	0.047	0.21998	B	0.039	0.23607	B	0.714790	0.06279	U	1.293900	0.516498	0.54805	D	1.845	0.48678	L	1.6	0.28604	T	-1.81	0.42575	N	0.234	0.26596	-1.1190	0.02395	T	0.047	0.20116	T	10	0.0060564578	0.00136	T	.	.	.	0.044	0.11924	.	.	0.043077524339	0.03247	0.36344445300390743	0.36258	2.073624099	0.94498	0.61243647337	0.54661	T	0.290878	0.66365	T	-0.464481	0.00921	T	-0.427647	0.30203	T	0.051960638129214	0.05841	T	0.880312	0.59828	D	0.11622287	0.27416	0.13331488	0.31970	0.11622287	0.27416	0.13331488	0.31969	-5.155	0.38481	T	.	.	0.086	0.11172	B	.;.	.;.	3.568289	0.50241	22.9	0.99028105396021637	0.50742	0.91850	0.54398	D	AEFDBI	0.208233	0.33433	N	-0.513885814024058	0.21630	1.149333	-0.402537516771408	0.24923	1.367544	0.951471058068634	0.27959	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.636168	0.56350	0	.	.	5.99	4.03	0.46115	4.409000	0.59524	7.437000	0.58841	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0697:0.0:0.7915:0.1389	9.831	0.40107	553	0.71930	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	837.98	37	chr16	1625985	.	G	T	837.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.560e-01;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.88;ReadPosRankSum=-3.600e-02;SOR=0.602	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1272	20	0	1	0
chr16	1787990	1787990	C	T	exonic	NUBP2	.	nonsynonymous SNV	NUBP2:NM_001284502:exon4:c.C116T:p.T39M	.	.	418	1070	31	3	0	37	0.0169959	.	.	703532	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.13	T	0.954	P	0.641	P	0.000	D	1.000	D	-0.04	N	1.57	T	-1.113	T	0.035	T	0.687	1.315	10.31	1.6	0.409	1.551	8.767	0.219	.	0.0051	0.00479233	0.0070	0.0006	0.0030	0	0.0119	0.0098	0.0090	0.0040	0.0065782	1017	154602	rs111886912	0.0063	0.0063	0.0062	0.0064	0.0200	0.0062	0.0061	0.0171	0.0159	0.0009	0.0035	0.0297	5.045e-05	0.0119	0.0200	0.0060	0.0075	0.0040	0.0058	0.0058	0.0059	0.0057	0.0074	0.0055	0.0053	0.0069	0.0067	0.0010	0.0219	0.0038	0.0285	0	0.0109	0.0238	0.0074	0.0085	0.0039	0.119	0.36509	T	0.165	0.38891	T	0.954	0.54400	P	0.641	0.52117	P	0.000107	0.50451	D	0.205980	0.999818	0.49394	D	1.23	0.30720	L	1.57	0.29342	T	-3.38	0.73378	D	0.365	0.40665	-1.1131	0.02817	T	0.035	0.15160	T	10	0.008056521	0.00183	T	.	.	.	0.219	0.51417	.	.	0.374255764437	0.37033	0.6427888404934955	0.64213	0.255294500027	0.28121	0.460974365473	0.33443	T	0.269597	0.64181	T	-0.348624	0.04814	T	-0.265589	0.48265	T	0.0335245615151962	0.02558	T	0.789921	0.54842	T	0.12877081	0.30095	0.18379685	0.41392	0.12877081	0.30095	0.18379685	0.41391	-6.099	0.47100	T	.	.	0.121	0.30397	B	.;.;.;.;.;.	.;.;.;.;.;.	3.459331	0.48208	22.6	0.94265788090476677	0.24550	0.21684	0.21488	N	AEFBCI	0.210690	0.33656	N	-0.417561109504798	0.24853	1.344939	-0.518398049858351	0.21654	1.172412	0.999942891112	0.47345	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.77	1.6	0.22686	1.699000	0.37423	0.847000	0.22099	0.599000	0.40250	0.846000	0.30379	0.304000	0.24236	0.562000	0.30459	0.0:0.7307:0.0:0.2693	8.767	0.33870	565	0.70868	.;.;.;.;.;.	.	.	.	.	rs111886912	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1162.98	41	chr16	1787990	.	C	T	1162.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.24;DP=1088;ExcessHet=0.0000;FS=3.504;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.29;ReadPosRankSum=-9.590e-01;SOR=1.047	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr16	1791558	1791558	G	A	exonic	IGFALS	.	nonsynonymous SNV	IGFALS:NM_001146006:exon2:c.C974T:p.P325L	Acid-labile subunit, deficiency of	.	.	.	.	.	.	.	.	.	.	703533	not_provided|not_specified|Short_stature_due_to_primary_acid-labile_subunit_deficiency	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0014420,MedGen:C3900122,OMIM:615961,Orphanet:140941	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.61	T	0.002	B	0.008	B	0.020	N	1.000	D	-0.205	N	1.92	T	-1.007	T	0.016	T	0.156	-1.394	0.024	4.21	2.462	4.344	4.142	0.084	0.0164065016574	0.0042	0.00279553	0.0051	0.0010	0.0062	0	0.0039	0.0089	0.0036	0.0004	0.0027361	423	154602	rs35706152	0.0059	0.0058	0.0060	0.0057	0.0070	0.0058	0.0057	0.0068	0.0068	0.0011	0.0041	3.931e-05	2.718e-05	0.0037	0.0002	0.0070	0.0049	0.0004	0.0042	0.0042	0.0046	0.0038	0.0069	0.0039	0.0038	0.0064	0.0062	0.0014	0	0.0046	0.0003	0	0.0031	0	0.0069	0.0043	0.0002	1.0	0.00964	T	0.653	0.06666	T	0.002	0.09854	B	0.008	0.13708	B	0.019837	0.27171	N	0.397979	0.995039	0.42516	D	-0.54	0.02511	N	1.92	0.23082	T	-0.27	0.11366	N	0.091	0.09349	-1.0069	0.27881	T	0.016	0.06521	T	10	0.009347528	0.00211	T	0.016407	0.37653	T	0.084	0.24469	.	.	0.628632071366	0.62559	0.24642960455124976	0.24556	0.0512782227325	0.05640	0.522785902023	0.42019	T	0.098532	0.40245	T	-0.557915	0.00261	T	-0.570178	0.15432	T	0.0128491033734068	0.00220	T	0.313569	0.06164	T	0.03951768	0.05473	0.050750796	0.08028	0.04320258	0.06692	0.051252533	0.08210	-3.021	0.11205	T	0.07250072454410691	0.02978	0.107	0.28057	B	.;.	.;.	2.720952	0.35591	19.94	0.69369190534290037	0.08950	0.67679	0.33520	D	AEFDBCI	0.314188	0.41912	N	-0.340715452556209	0.27615	1.516518	-0.117040289881953	0.34702	1.999207	0.999989408807702	0.51787	0.514905	0.20481	0	0.379588	0.06130	0	0.603688	0.36954	0	0.562822	0.20929	0	.	.	5.26	4.21	0.48984	4.374000	0.59312	8.397000	0.77098	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.645000	0.32557	0.3111:0.0:0.6889:0.0	4.142	0.09665	565	0.70868	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1007.98	34	chr16	1791558	.	G	A	1007.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=982;ExcessHet=0.0000;FS=1.790;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=1.48;SOR=0.601	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,114,1800	20	0	1	0
chr16	1791852	1791852	G	A	exonic	IGFALS	.	nonsynonymous SNV	IGFALS:NM_001146006:exon2:c.C680T:p.A227V	Acid-labile subunit, deficiency of	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.029	B	0.012	B	0.361	N	1.000	N	1.69	L	0.79	T	-0.999	T	0.117	T	0.053	-1.007	0.250	-0.125	0.098	1.455	8.691	0.045	0.0314436652616	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs781119629	1.356e-05	1.505e-05	1.41e-05	1.301e-05	9.4e-05	8.67e-06	6.99e-06	2.49e-05	1.29e-05	9.4e-05	2.735e-05	0	2.769e-05	2.211e-05	0	1.201e-05	0	0	3.285e-05	3.283e-05	5.137e-05	1.345e-05	7.349e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0	0	0.853	0.04685	T	0.572	0.08746	T	0.006	0.13644	B	0.009	0.14300	B	0.361326	0.13665	N	0.658970	1	0.08975	N	0.895	0.22405	L	0.79	0.57100	T	-0.34	0.12661	N	0.051	0.05037	-0.9989	0.30227	T	0.117	0.41142	T	10	0.13679406	0.26025	T	0.031444	0.53528	D	0.045	0.12272	0.619	0.75347	0.665809984262	0.66299	0.3727656668721213	0.37190	0.0521217480594	0.05734	0.470262736082	0.34717	T	0.07172	0.34278	T	-0.315014	0.07313	T	-0.570292	0.15422	T	0.057908358054238	0.06836	T	0.616838	0.23989	T	0.025318872	0.01457	0.040007286	0.04227	0.025318872	0.01457	0.040007286	0.04226	-3.048	0.13164	T	0.16646551966381534	0.20699	0.084	0.14155	B	.;.	.;.	0.216547	0.05992	2.435	0.78141882119553341	0.12173	0.08736	0.14622	N	AEFDBCI	0.130658	0.24930	N	-1.06275298525367	0.07339	0.340627	-1.10890657690106	0.07530	0.3665977	0.996118614039231	0.34533	0.403107	0.06075	0	0.379588	0.06130	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.09	-0.125	0.12859	1.474000	0.35006	1.156000	0.24517	-0.124000	0.13482	0.019000	0.19563	0.000000	0.08366	0.009000	0.08673	0.7845:0.0:0.2155:0.0	8.691	0.33426	565	0.70868	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1575.98	34	chr16	1791852	.	G	A	1575.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=1044;ExcessHet=0.0000;FS=1.694;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.08;ReadPosRankSum=-6.570e-01;SOR=0.504	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,114,1800	20	0	1	0
chr16	1791996	1791996	G	A	exonic	IGFALS	.	nonsynonymous SNV	IGFALS:NM_001146006:exon2:c.C536T:p.T179M	Acid-labile subunit, deficiency of	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.99	D	0.815	P	0.001	N	1.000	D	0.725	N	-1.35	T	-0.439	T	0.402	T	0.166	1.632	11.41	3.87	0.818	4.959	9.832	0.409	0.332653174429	.	.	2.406e-05	0	0	0	0	4.314e-05	0	0	1.29e-05	2	154602	rs776277033	2.541e-05	2.599e-05	2.596e-05	2.485e-05	3.151e-05	1.875e-05	1.637e-05	2.287e-05	2.024e-05	0	0	0	0	0	0	3.151e-05	3.322e-05	0	1.314e-05	1.313e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.101	0.30656	T	0.058	0.50514	T	0.99	0.63424	D	0.815	0.58847	P	0.001415	0.39109	N	0.252757	1	0.81001	D	1.735	0.44892	L	-1.35	0.80035	T	-2.21	0.49684	N	0.38	0.42149	-0.4386	0.70777	T	0.402	0.75295	T	10	0.56024384	0.64747	D	0.332653	0.91795	D	0.409	0.72099	0.456	0.52102	0.93180314706	0.93110	0.4050409918251559	0.40420	0.278002253386	0.30281	0.375663727522	0.21640	T	0.300074	0.67258	T	-0.0569059	0.43390	T	-0.243278	0.50479	T	0.818901538848877	0.47691	D	0.79532	0.43818	T	0.038436823	0.05121	0.113922454	0.27496	0.038436823	0.05121	0.113922454	0.27495	-7.308	0.56253	T	0.5540977274659553	0.62239	0.132	0.33504	B	.;.	.;.	3.330892	0.45857	22.2	0.99365908632615862	0.61198	0.74405	0.36398	D	AEFDBCI	0.532081	0.55210	D	-0.0285620034366801	0.40564	2.411179	-0.11426829520883	0.34813	2.006902	0.999943410017583	0.47345	0.403107	0.06075	0	0.379588	0.06130	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.09	3.87	0.43823	5.023000	0.63858	6.518000	0.55825	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.020000	0.11549	0.1338:0.0:0.8661:0.0	9.832	0.40114	565	0.70868	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1036.98	102	chr16	1791996	.	G	A	1036.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.37;DP=1675;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.17;ReadPosRankSum=0.932;SOR=0.720	GT:AD:DP:GQ:PL	0/0:72,0:72:99:0,120,1800	20	0	1	0
chr16	1809341	1809341	A	G	exonic	HAGH	.	nonsynonymous SNV	HAGH:NM_005326:exon9:c.T869C:p.V290A	.	.	12	1452	54	4	0	62	0.0209036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.271	B	0.118	B	0.179	N	1.000	D	1.245	L	-3.73	D	0.322	D	0.690	D	0.652	3.286	17.04	4.98	2.003	8.358	14.132	0.568	.	0.0014	0.00599042	0.0047	9.653e-05	0.0013	0	0	0.0028	0.0066	0.0216	0.0041785	646	154602	rs151314474	0.0026	0.0026	0.0019	0.0033	0.0199	0.0025	0.0025	0.0191	0.0188	0.0003	0.0018	0.0121	2.519e-05	3.777e-05	0.0135	0.0012	0.0039	0.0199	0.0022	0.0022	0.0019	0.0026	0.0230	0.0021	0.0020	0.0195	0.0182	0.0003	0	0.0021	0.0098	0	0	0.0034	0.0020	0.0066	0.0230	0.325	0.25873	T	0.269	0.26226	T	0.271	0.31796	B	0.118	0.32088	B	0.179333	0.17147	N	0.556675	0.99999	0.81001	D	1.365	0.34158	L	-3.73	0.95458	D	-3.88	0.72710	D	0.234	0.53181	0.322	0.87901	D	0.690	0.89309	D	10	0.006383598	0.00144	T	.	.	.	0.568	0.82403	.	.	0.853297744544	0.85188	0.6005269816842213	0.59983	0.256767550364	0.28246	0.555836677551	0.46680	T	0.343914	0.71250	T	-0.0816589	0.39443	T	0.126846	0.78686	D	0.0902594041854258	0.11249	T	0.926607	0.72946	D	0.1953377	0.41318	0.30353233	0.56384	0.1953377	0.41318	0.30353233	0.56383	-9.225	0.69134	D	.	.	0.234	0.47382	B	.;.;.	.;.;.	4.108763	0.61322	24.3	0.9770966708406994	0.35489	0.95170	0.63696	D	AEFDBHCI	0.892467	0.82943	D	-0.0176703182364091	0.41055	2.448988	0.0806842467433379	0.43578	2.656657	0.999995011632823	0.74766	0.77792	0.99625	0	0.702456	0.74545	0	0.854111	0.99894	0	0.714379	0.83352	0	.	.	4.98	4.98	0.65679	8.375000	0.90028	9.197000	0.79161	0.756000	0.94297	0.972000	0.34453	1.000000	0.68203	0.038000	0.14061	1.0:0.0:0.0:0.0	14.132	0.64790	588	0.69043	Hydroxyacylglutathione hydrolase, C-terminal domain;Hydroxyacylglutathione hydrolase, C-terminal domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1513.98	41	chr16	1809341	.	A	G	1513.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.058e+00;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.74;ReadPosRankSum=1.36;SOR=0.656	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1223	20	0	1	0
chr16	1817189	1817189	C	T	exonic	HAGH	.	stopgain	HAGH:NM_001286249:exon5:c.G515A:p.W172X,	.	.	9	1488	24	1	0	26	0.00866089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	1.219	9.947	0.68	-0.090	0.380	2.252	.	.	0.0023	0.00299521	0.0037	0.0009	0.0010	0	0.0003	0.0040	0.0022	0.0101	0.0035511	549	154602	rs61729103	0.0038	0.0039	0.0036	0.0041	0.0099	0.0038	0.0037	0.0094	0.0092	0.0004	0.0014	0.0007	2.52e-05	0.0009	0.0054	0.0040	0.0028	0.0099	0.0028	0.0029	0.0029	0.0028	0.0099	0.0026	0.0025	0.0077	0.0069	0.0007	0.0208	0.0024	0.0012	0.0002	0.0010	0.0034	0.0041	0.0033	0.0099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.798	0.79406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.517765	0.00453	T	-0.508548	0.21466	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	0.923064	0.12983	9.486	0.97700951927249491	0.35436	0.91634	0.53938	D	AEFDBI	0.114516	0.22552	N	-0.150670226938905	0.35206	2.019274	-0.199465689945463	0.31556	1.786998	6.62357201934162E-5	0.04366	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.15	0.68	0.17146	0.428000	0.21114	0.725000	0.21043	0.598000	0.34611	0.995000	0.38783	0.999000	0.35428	0.347000	0.25591	0.2694:0.4559:0.1311:0.1436	2.252	0.03798	608	0.67185	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1300.98	35	chr16	1817189	.	C	T	1300.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=855;ExcessHet=0.0000;FS=1.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=2.09;SOR=0.534	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	20	0	1	0
chr16	1917934	1917934	G	C	exonic	HS3ST6	.	stopgain	HS3ST6:NM_001009606:exon1:c.C390G:p.Y130X,	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	U	1.000	D	.	.	.	.	.	.	.	.	.	3.153	16.54	1.64	0.051	0.811	6.269	.	.	0.0002	.	0.0009	0.0015	0	0	0	0.0016	0	0	0.0001552	24	154602	rs200310444	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	3.542e-05	0	0	0	0.0002	0.0002	0.0002	0.0001	0	0.0001	0.0001	0.0001	0.0002	0.0002	9.745e-05	8.259e-05	0.0001	7.896e-05	9.648e-05	0	0.0002	0	0	0.0002	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000001	0.62929	U	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.202	0.22357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285985	0.81824	D	0.491094	0.94428	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive|Recessive	Low|High	7.397251	0.96474	36	0.99043578199574722	0.51073	0.84598	0.43681	D	AEFDBCI	0.326640	0.42785	N	0.169124783955715	0.49720	3.169275	-0.0255666206049844	0.38564	2.273822	0.992931240813881	0.33023	0.59774	0.34471	0	0.78372	0.99691	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	3.93	1.64	0.22949	0.557000	0.23159	0.263000	0.16568	-0.206000	0.08541	0.984000	0.35821	0.940000	0.28757	0.953000	0.50222	0.4511:0.0:0.5489:0.0	6.269	0.20150	631	0.64944	Sulfotransferase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	513.98	36	chr16	1917934	.	G	C	513.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.795;DP=757;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.18;ReadPosRankSum=0.505;SOR=0.582	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr16	1917981	1917981	-	G	exonic	HS3ST6	.	frameshift insertion	HS3ST6:NM_001009606:exon1:c.342dupC:p.D115Rfs*8,	.	.	404	1116	2	0	0	2	0.000895255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.000998403	0.0052	0.0023	0.0062	0	0	0.0092	0.0059	0.0007	0.0005763	15	26028	rs573199046	0.0022	0.0022	0.0022	0.0022	0.0025	0.0021	0.0021	0.0024	0.0024	0.0003	0.0016	0.0030	0	0.0008	0.0014	0.0025	0.0019	0.0006	0.0018	0.0018	0.0015	0.0022	0.0029	0.0016	0.0016	0.0026	0.0025	0.0003	0	0.0023	0.0040	0	0.0007	0	0.0029	0.0014	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1467.94	36	chr16	1917981	.	C	CG	1467.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.800e-02;DP=818;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.25;ReadPosRankSum=-9.900e-02;SOR=0.649	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr16	1945845	1945845	G	A	exonic	RPL3L	.	nonsynonymous SNV	RPL3L:NM_005061:exon8:c.C1037T:p.T346M,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	3.345	M	1.8	T	-0.429	T	0.227	T	0.797	2.549	14.48	4.25	2.339	9.314	15.755	0.486	0.0539384357413	.	0.000399361	0.0001	0	0.0006	0	0	6.036e-05	0	0.0004	0.0001682	26	154602	rs541904197	0.0001	0.0001	0.0001	0.0002	0.0006	0.0001	0.0001	0.0004	0.0004	2.987e-05	0.0006	0.0005	0	0	0.0003	9.802e-05	0.0002	0.0005	0.0002	0.0002	0.0002	0.0003	0.0008	0.0002	0.0001	0.0005	0.0004	9.621e-05	0	0.0008	0.0009	0	0	0.0034	0.0001	0.0005	0.0008	0.0	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.47	0.92451	M	1.8	0.25344	T	-5.08	0.82896	D	0.815	0.81063	-0.4291	0.71096	T	0.227	0.59171	T	10	0.59971607	0.66843	D	0.053938	0.65663	D	0.486	0.77464	.	.	0.809342402421	0.80755	0.5835613839592181	0.58285	0.521112319639	0.49893	0.744799733162	0.73678	T	0.136881	0.46951	T	-0.101657	0.36150	T	-0.02189	0.68904	D	0.632978200912476	0.37742	D	0.980402	0.93314	D	0.75421816	0.81114	0.68406373	0.81426	0.75421816	0.81116	0.68406373	0.81427	-9.933	0.73510	D	.	.	0.200	0.42317	B	.	.	5.020708	0.83434	28.0	0.99808096396634916	0.89264	0.99485	0.96606	D	AEFBI	0.957652	0.97697	D	0.767440709023184	0.84033	8.176746	0.6137785436798	0.75941	6.400245	0.999997674024224	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.25	4.25	0.49658	9.719000	0.97996	11.728000	0.94942	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	15.755	0.77786	679	0.60090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2129.98	42	chr16	1945845	.	G	A	2129.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=919;ExcessHet=0.0000;FS=7.729;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=0.239;SOR=0.518	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1456	20	0	1	0
chr16	1974619	1974619	A	G	exonic	TBL3	.	nonsynonymous SNV	TBL3:NM_006453:exon5:c.A319G:p.I107V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.004	B	0.006	B	0.867	N	0.680	D	-0.55	N	.	.	-1.021	T	0.037	T	0.18	0.320	5.734	1.43	0.252	0.768	6.987	0.015	0.0140557278898	0.0005	0.000798722	0.0005	0.0011	0.0003	0.0002	0	0.0002	0.0012	0.0016	0.0004075	63	154602	rs201339393	0.0003	0.0003	0.0002	0.0003	0.0018	0.0003	0.0002	0.0016	0.0015	0.0011	0.0004	3.833e-05	0.0002	0	0.0003	0.0001	0.0002	0.0018	0.0004	0.0004	0.0004	0.0005	0.0014	0.0003	0.0003	0.0007	0.0005	0.0008	0	6.533e-05	0	0.0004	0	0	0.0003	0	0.0014	0.436	0.09374	T	0.471	0.12211	T	0.004	0.12183	B	0.006	0.12133	B	0.866905	0.08853	N	0.946466	0.680201	0.33226	D	0.345	0.11182	N	0.16	0.60610	T	-0.36	0.13035	N	0.264	0.29889	-1.0212	0.23324	T	0.037	0.15986	T	9	0.01903519	0.00420	T	0.014056	0.33919	T	.	.	.	.	0.228597637076	0.22478	0.23548485457498414	0.23463	0.115312825706	0.13006	0.37448912859	0.21473	T	0.009979	0.09046	T	-0.471619	0.00830	T	-0.474852	0.24996	T	0.000412385038613711	0.00003	T	0.710329	0.32115	T	0.015279679	0.00131	0.021277322	0.00185	0.015279679	0.00131	0.021277322	0.00185	-1.648	0.02097	T	.	.	0.068	0.02765	B	.	.	0.612044	0.09802	6.570	0.78420310926716463	0.12293	0.12719	0.17439	N	AEFBI	0.093857	0.18985	N	-0.908816281933772	0.10635	0.5091508	-0.804046066239606	0.14397	0.7520729	0.989824819355817	0.31946	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.97	1.43	0.21585	1.058000	0.30114	-0.098000	0.11976	-0.045000	0.17359	0.348000	0.25742	0.000000	0.08366	0.504000	0.29107	0.4915:0.0:0.5085:0.0	6.987	0.23915	707	0.57054	WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1518.98	91	chr16	1974619	.	A	G	1518.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.960e-01;DP=1352;ExcessHet=0.0000;FS=1.610;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.89;ReadPosRankSum=0.509;SOR=0.949	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1175	20	0	1	0
chr16	1978378	1978378	G	A	exonic	TBL3	.	nonsynonymous SNV	TBL3:NM_006453:exon21:c.G2200A:p.V734M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.996	D	0.000	D	1.000	D	2.7	M	.	.	0.169	D	0.534	D	0.628	4.254	22.2	5.13	2.376	4.921	17.550	0.664	0.0989280023845	0.0002	.	5.082e-05	0.0001	0	0	0	7.75e-05	0	0	5.82e-05	9	154602	rs368909625	2.878e-05	2.942e-05	3.41e-05	2.342e-05	4.48e-05	2.155e-05	1.911e-05	2.118e-05	1.863e-05	2.991e-05	4.48e-05	0	2.522e-05	0	0	2.97e-05	4.974e-05	2.321e-05	3.941e-05	3.939e-05	5.137e-05	2.689e-05	7.236e-05	1.715e-05	1.129e-05	1.919e-05	1.032e-05	7.236e-05	0	0	0	0	0	0	4.41e-05	0	0	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.996	0.84481	D	0.000004	0.62929	D	0.061397	1	0.81001	D	2.45	0.71042	M	-0.28	0.67543	T	-2.5	0.54382	D	0.364	0.40565	0.169	0.85375	D	0.534	0.82738	D	9	0.44130212	0.58118	T	0.098928	0.77023	D	.	.	.	.	0.682271003597	0.67956	0.7128913380275852	0.71231	0.577109580305	0.53651	0.799692034721	0.81916	T	0.251465	0.62172	T	-0.0125651	0.49905	T	-0.0736785	0.65362	T	0.430440098047256	0.30077	T	0.933407	0.75038	D	0.6478878	0.75251	0.6444669	0.79217	0.6478878	0.75252	0.6444669	0.79218	-7.171	0.55273	T	.	.	0.283	0.51600	B	.	.	5.057571	0.84280	28.3	0.99890601363800702	0.96513	0.98658	0.85234	D	AEFDBI	0.734914	0.68090	D	0.69566313470986	0.79348	7.058778	0.609479545699865	0.75628	6.344203	0.999999999995402	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.13	5.13	0.69729	6.015000	0.70444	8.433000	0.77176	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.582000	0.30943	0.0:0.0:1.0:0.0	17.550	0.87771	730	0.54327	Small-subunit processome, Utp13	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2063.98	34	chr16	1978378	.	G	A	2063.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.15;DP=924;ExcessHet=0.0000;FS=7.113;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.79;ReadPosRankSum=1.27;SOR=1.302	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1081	20	0	1	0
chr16	1992881	1992881	G	A	exonic	SYNGR3	.	nonsynonymous SNV	SYNGR3:NM_004209:exon4:c.G499A:p.A167T,	.	.	.	.	.	.	.	.	.	.	.	2674540	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.993	D	0.78	P	0.000	N	1.000	D	1.965	M	2.54	T	-1.150	T	0.057	T	0.495	3.307	17.11	1.78	0.286	7.691	8.666	0.277	0.0411093624748	7.7e-05	.	9.587e-05	0	0	0	0	0.0001	0	0.0002	3.88e-05	6	154602	rs374198453	2.296e-05	2.326e-05	2.07e-05	2.526e-05	0.0018	1.638e-05	1.441e-05	0.0010	0.0007	0	0	0.0007	0	0	0.0018	1.82e-06	3.379e-05	1.202e-05	2.628e-05	2.627e-05	2.569e-05	2.69e-05	.	8.14e-06	5.14e-06	.	.	0	0	0	0.0012	0	0	0	0	0	0	0.019	0.50132	D	0.005	0.72224	D	0.993	0.65571	D	0.78	0.57283	P	0.000185	0.48115	N	0.179351	0.999999	0.81001	D	2.985	0.85602	M	2.54	0.13916	T	-2.96	0.61722	D	0.499	0.53181	-1.1501	0.01022	T	0.057	0.23866	T	10	0.29317945	0.46893	T	0.041109	0.59746	D	0.277	0.59375	.	.	0.307648195649	0.30373	0.8514070402981506	0.85102	1.35464816004	0.84160	0.783896684647	0.79516	T	0.343507	0.71215	T	-0.139864	0.29914	T	-0.310902	0.43562	T	0.487748324871063	0.32181	T	0.851715	0.53598	D	0.18522877	0.39875	0.19735353	0.43512	0.18522877	0.39875	0.19735353	0.43511	-9.988	0.73840	D	.	.	0.573	0.67765	P	.	.	5.599932	0.92448	32	0.99659159364651728	0.77820	0.89663	0.50272	D	AEFDBCI	0.884845	0.81487	D	0.360822304773131	0.59313	4.10971	0.278260565449906	0.54274	3.592727	0.999999995768812	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.52208	0.10781	0	0.562822	0.20929	0	.	.	3.79	1.78	0.23918	7.845000	0.85166	11.663000	0.94010	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.1904:0.0:0.8096:0.0	8.666	0.33285	774	0.48577	Marvel domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1238.98	39	chr16	1992881	.	G	A	1238.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.786;DP=821;ExcessHet=0.0000;FS=0.710;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.06;ReadPosRankSum=0.943;SOR=0.596	GT:AD:DP:GQ:PL	0/1:60,52:112:99:1253,0,1420	20	0	1	0
chr16	1999878	1999878	G	-	exonic	ZNF598	.	frameshift deletion	ZNF598:NM_178167:exon11:c.1671delC:p.G558Afs*8,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.73e-05	0	0.0003	0	0	4.49e-05	0	0	3.23e-05	5	154602	rs748405225	0.0002	0.0002	0.0002	0.0002	0.0020	0.0002	0.0002	0.0016	0.0015	0.0020	0.0010	0.0008	0	2.753e-05	0.0011	9.357e-05	0.0007	1.202e-05	0.0007	0.0007	0.0006	0.0009	0.0018	0.0006	0.0006	0.0015	0.0013	0.0018	0	0.0010	0	0	0	0.0103	0.0002	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1941.94	40	chr16	1999877	.	CG	C	1941.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.420;DP=1082;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.34;ReadPosRankSum=0.520;SOR=0.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:56,0:56:99:.:.:0,120,1800	20	0	1	0
chr16	1999880	1999881	CG	-	exonic	ZNF598	.	frameshift deletion	ZNF598:NM_178167:exon11:c.1668_1669del:p.D556Efs*30,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.973e-05	0	0.0004	0	0	4.768e-05	0	0	3.84e-05	1	26028	rs756231103	0.0002	0.0002	0.0002	0.0002	0.0020	0.0002	0.0002	0.0016	0.0015	0.0020	0.0010	0.0008	0	2.759e-05	0.0011	9.363e-05	0.0007	1.204e-05	0.0007	0.0007	0.0006	0.0009	0.0018	0.0006	0.0006	0.0015	0.0013	0.0018	0	0.0010	0	0	0	0.0104	0.0002	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1941.94	40	chr16	1999879	.	CCG	C	1941.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.700e-02;DP=1084;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.34;ReadPosRankSum=0.376;SOR=0.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:56,0:56:99:.:.:0,120,1800	20	0	1	0
chr16	1999881	1999881	G	0	exonic	ZNF598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	12579.4	40	chr16	1999881	.	G	GTCC,*	12579.4	.	AC=9,1;AF=0.214,0.024;AN=42;BaseQRankSum=0.849;DP=1110;ExcessHet=0.0001;FS=0.000;InbreedingCoeff=0.7375;MLEAC=9,1;MLEAF=0.214,0.024;MQ=60.00;MQRankSum=0.00;QD=32.09;ReadPosRankSum=0.776;SOR=0.718	GT:AD:DP:GQ:PL	0/0:56,0,0:56:99:0,120,1800,120,1800,1800	15	3	2	0
chr16	2020148	2020148	G	A	exonic	NPW	.	nonsynonymous SNV	NPW:NM_001099456:exon1:c.G247A:p.A83T,	.	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.572	P	0.081	B	0.052	N	1.000	N	0.55	N	0.84	T	-1.040	T	0.066	T	0.16	2.162	13.18	-1.23	-0.148	0.079	2.659	0.052	0.0192777702933	.	0.00119808	0.0007	0.0002	0	0	0.0007	0	0.0020	0.0040	0.000414	64	154602	rs543718628	0.0002	0.0003	0.0001	0.0003	0.0035	0.0002	0.0002	0.0032	0.0031	6.406e-05	0	0	0	0	0	8.213e-06	0.0003	0.0035	0.0002	0.0002	0.0001	0.0002	0.0050	0.0001	0.0001	0.0034	0.0029	0	0	0	0	0	0	0	2.943e-05	0	0.0050	0.0	0.91255	D	0.572	0.08746	T	0.572	0.38625	P	0.081	0.28987	B	0.051782	0.02029	N	2.314070	1	0.08975	N	0.895	0.22405	L	0.65	0.52642	T	-1.23	0.31170	N	.	.	-1.0397	0.17404	T	0.066	0.27364	T	10	0.004998833	0.00108	T	0.019278	0.41600	T	0.052	0.14661	0.115	0.02372	0.236278675362	0.23226	0.08620949880237444	0.08554	.	.	0.692877173424	0.66118	T	0.004702	0.04113	T	-0.54883	0.00296	T	-0.563238	0.16075	T	0.00448221744862612	0.00048	T	0.355964	0.08087	T	0.036118463	0.04381	0.07115768	0.15205	0.036118463	0.04381	0.07115768	0.15204	-5.096	0.37865	T	.	.	0.101	0.17360	B	.;.	.;.	0.984317	0.13618	10.15	0.97609398039474515	0.34898	0.04692	0.10377	N	AEFDBCI	0.086037	0.17444	N	-0.931990997336822	0.10100	0.4810701	-1.06504228309539	0.08396	0.4126544	0.999999953206814	0.74766	0.65757	0.49021	0	0.563428	0.19063	0	0.619478	0.44681	0	0.618803	0.45993	0	.	.	3.08	-1.23	0.08977	-0.173000	0.09844	2.041000	0.30300	-0.226000	0.07819	0.000000	0.06391	0.450000	0.24948	0.000000	0.00833	0.2723:0.0:0.3913:0.3364	2.659	0.04716	702	0.57624	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	297.98	39	chr16	2020148	.	G	A	297.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.800e-02;DP=742;ExcessHet=0.0000;FS=4.036;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.54;ReadPosRankSum=-1.874e+00;SOR=1.082	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,114,1182	20	0	1	0
chr16	2062988	2062988	G	A	exonic	TSC2	.	nonsynonymous SNV	TSC2:NM_001318831:exon11:c.G778A:p.A260T	Lymphangioleiomyomatosis, somatic;Tuberous sclerosis-2, Autosomal dominant	YES	0	1509	13	0	0	13	0.00428901	.	.	58822	Hereditary_cancer-predisposing_syndrome|not_provided|not_specified|Tuberous_sclerosis_syndrome|Tuberous_sclerosis_2	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0001734,MedGen:C0041341,OMIM:PS191100,Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254,Orphanet:805	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.6	T	1.0	D	0.997	D	0.001	D	1.000	D	1.1	L	-1.35	T	-0.175	T	0.547	D	0.9	2.976	15.92	5.24	2.438	7.128	18.812	0.563	0.162465087376	0.0008	.	0.0024	0.0004	0	0	0	0.0054	0.0052	0.0001	0.0004786	74	154602	rs137854154	0.0007	0.0007	0.0007	0.0008	0.0108	0.0007	0.0007	0.0086	0.0078	3.166e-05	0.0004	0.0149	8.396e-05	0	0.0108	0.0004	0.0017	0.0001	0.0007	0.0007	0.0007	0.0008	0.0005	0.0006	0.0006	0.0004	0.0003	2.405e-05	0	0.0003	0.0161	0.0002	0	0.0442	0.0005	0.0014	0.0002	0.407	0.10245	T	0.587	0.08565	T	1.0	0.90584	D	0.997	0.86255	D	0.000544	0.43413	D	0.207417	0.99969	0.48338	D	1.645	0.42016	L	-1.35	0.80035	T	-0.43	0.19085	N	0.654	0.86085	-0.1755	0.78293	T	0.547	0.83379	D	10	0.009741873	0.00219	T	0.162465	0.84203	D	0.563	0.82118	.	.	0.812524160204	0.81076	0.16594122693251886	0.16514	.	.	0.491957485676	0.37710	T	0.328302	0.69873	T	0.0682677	0.60639	T	0.243502	0.85311	D	0.0603967384181006	0.07231	T	0.874113	0.58433	D	0.07935697	0.18124	0.07210155	0.15515	0.08406206	0.19439	0.07072015	0.15057	-5.549	0.42324	T	0.2994829771627527	0.39674	0.089	0.13127	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.493073	0.70201	25.5	0.99594259389761552	0.73807	0.94236	0.60528	D	AEFBHCI	0.792699	0.72092	D	0.402941493836061	0.61584	4.361499	0.435621694201341	0.63798	4.620965	0.999999999677212	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.292000	0.78084	8.524000	0.77433	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.133000	0.19684	0.0:0.0:1.0:0.0	18.812	0.92027	726	0.54788	Tuberin, N-terminal;Tuberin, N-terminal;Tuberin, N-terminal;.;.;Tuberin, N-terminal;Tuberin, N-terminal;Tuberin, N-terminal;.;.;Tuberin, N-terminal;.;Tuberin, N-terminal;Tuberin, N-terminal;Tuberin, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	762.98	33	chr16	2062988	.	G	A	762.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.400e-02;DP=777;ExcessHet=0.0000;FS=0.950;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=-4.230e-01;SOR=0.846	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1118	20	0	1	0
chr16	2064405	2064405	G	C	exonic	TSC2	.	nonsynonymous SNV	TSC2:NM_001318831:exon12:c.G977C:p.S326T	Lymphangioleiomyomatosis, somatic;Tuberous sclerosis-2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	203117	Hereditary_cancer-predisposing_syndrome|not_provided|not_specified|Tuberous_sclerosis_2|Lymphangiomyomatosis|Isolated_focal_cortical_dysplasia_type_II	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254,Orphanet:805|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690,Orphanet:538|Human_Phenotype_Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341,Orphanet:268994	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.42	T	0.975	D	0.937	D	0.000	D	1.000	D	1.95	M	-0.27	T	-0.394	T	0.403	T	0.706	3.317	17.15	4.61	1.340	7.903	14.722	0.267	0.0448054287781	.	.	6.617e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs376573446	5.132e-05	5.13e-05	4.902e-05	5.365e-05	6.385e-05	4.193e-05	3.825e-05	5.161e-05	4.738e-05	2.987e-05	2.236e-05	0	0	0	0	6.385e-05	3.312e-05	0	0.0002	0.0002	0.0002	0.0002	8.818e-05	0.0001	0.0001	3.761e-05	2.575e-05	0	0.0263	0	0	0	0	0	8.818e-05	0	0	0.113	0.34095	T	0.012	0.64786	D	0.975	0.58077	D	0.937	0.67262	D	0.000000	0.84330	D	0.040721	0.999999	0.58761	D	2.08	0.57402	M	-0.27	0.67367	T	-1.74	0.41239	N	0.651	0.69125	-0.3944	0.72203	T	0.403	0.75345	T	10	0.016540289	0.00349	T	0.044805	0.61671	D	0.267	0.58126	0.438	0.49157	0.722460117132	0.72001	0.18335749553136818	0.18254	.	.	0.744692802429	0.73663	T	0.54104	0.84286	D	-0.00646759	0.50759	T	-0.0317317	0.68253	D	0.193655942369766	0.20057	T	0.831017	0.49766	T	0.437874	0.63264	0.19635601	0.43361	0.437874	0.63265	0.19635601	0.43360	-8.33	0.64449	D	0.3425110431151143	0.44018	0.168	0.43517	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.201872	0.63414	24.6	0.9772580313511543	0.35585	0.99141	0.91831	D	AEFBI	0.921459	0.89498	D	0.161171440323222	0.49343	3.135702	0.266771423985663	0.53608	3.529057	0.999986085489541	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.57	4.61	0.56724	8.073000	0.89297	8.569000	0.77598	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.07:0.0:0.93:0.0	14.722	0.68932	735	0.53711	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	2259.98	34	chr16	2064405	.	G	C	2259.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.053e+00;DP=889;ExcessHet=0.0000;FS=1.086;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=0.492;SOR=0.777	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1138	20	0	1	0
chr16	2090293	2090293	C	T	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon45:c.G12433A:p.V4145I	Polycystic kidney disease, adult type I, Autosomal dominant	.	0	1451	67	4	0	75	0.0251931	.	.	255509	Polycystic_kidney_disease,_adult_type|not_provided|Polycystic_kidney_disease|not_specified	MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.987	D	0.879	P	0.075	N	0.965	N	2.14	M	1.31	T	-0.910	T	0.144	T	0.091	3.922	19.95	4.02	2.050	2.055	16.309	0.072	0.0451531310905	0.0032	0.00339457	0.0048	0.0005	0.0035	0.0001	0.0056	0.0053	0.0080	0.0088	0.0044049	681	154602	rs148478410	0.0038	0.0038	0.0036	0.0041	0.0175	0.0038	0.0037	0.0148	0.0137	0.0007	0.0028	0.0022	0	0.0053	0.0175	0.0036	0.0045	0.0083	0.0033	0.0033	0.0037	0.0029	0.0064	0.0031	0.0030	0.0050	0.0048	0.0006	0	0.0016	0.0020	0.0004	0.0022	0	0.0055	0.0066	0.0064	0.163	0.23541	T	0.034	0.52727	D	0.972	0.61912	D	0.633	0.62418	P	0.075110	0.21243	N	0.475314	0.965042	0.25955	N	2.6	0.76081	M	1.31	0.35405	T	-0.76	0.21215	N	0.806	0.80180	-0.9105	0.46793	T	0.144	0.46587	T	10	0.010210127	0.00228	T	0.045153	0.61843	D	0.072	0.21020	.	.	0.783245712702	0.78124	0.2612534345992779	0.26038	.	.	0.55258089304	0.46222	T	0.239847	0.60805	T	-0.541596	0.00328	T	-0.544627	0.17844	T	0.0181758844097079	0.00538	T	0.836316	0.50742	T	0.2944897	0.52406	0.09615326	0.22835	0.29896998	0.52812	0.08810598	0.20521	-5.215	0.39094	T	0.5661712876178673	0.63361	0.221	0.45199	B	.;.	.;.	3.833642	0.55435	23.6	0.99708122681245359	0.81143	0.84668	0.43753	D	AEFDBCI	0.397753	0.47370	N	0.423190931841611	0.62700	4.490252	0.380317644411658	0.60350	4.221811	0.999999840776265	0.74766	0.741868	0.97996	0	0.702456	0.74545	0	0.774882	0.98623	0	0.562822	0.20929	0	.	.	4.02	4.02	0.45968	2.770000	0.47346	7.502000	0.59501	0.465000	0.21702	0.997000	0.40164	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	16.309	0.82694	774	0.48577	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	6231.68	37	chr16	2090293	.	C	T	6231.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.880e-01;DP=1579;ExcessHet=0.3300;FS=1.097;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.03;ReadPosRankSum=-9.300e-02;SOR=0.771	GT:AD:DP:GQ:PL	0/0:80,0:80:99:0,120,1800	18	0	3	0
chr16	2102139	2102139	G	A	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon26:c.C9319T:p.R3107C	Polycystic kidney disease, adult type I, Autosomal dominant	.	83	1438	1	0	0	1	0.000347584	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.939	D	0.023	N	0.999	N	1.445	L	1.25	T	-1.048	T	0.133	T	0.538	0.760	8.024	3.48	2.323	2.695	7.405	0.171	0.169370228376	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs3874654	5.575e-05	5.964e-05	3.653e-05	7.513e-05	0.0006	4.549e-05	4.211e-05	0.0005	0.0004	0	2.279e-05	0	7.565e-05	0	0	1.664e-05	5.105e-05	0.0006	3.308e-05	3.285e-05	2.587e-05	4.063e-05	0.0004	1.267e-05	8.03e-06	6.813e-05	2.852e-05	2.459e-05	0	0	0	0.0004	0	0	1.472e-05	0	0.0002	0.099	0.30656	T	0.1	0.38742	T	0.525	0.90584	P	0.039	0.67449	B	0.023089	0.26508	N	0.396105	0.999214	0.21497	N	2.36	0.67893	M	1.25	0.36512	T	-1.74	0.43906	N	0.326	0.36674	-1.0479	0.14988	T	0.133	0.44661	T	10	0.36193538	0.52801	T	0.16937	0.84721	D	0.171	0.43483	0.583	0.70990	0.852710729254	0.85129	0.7155610733948489	0.71499	.	.	0.33213275671	0.15256	T	0.313282	0.68504	T	-0.13986	0.29914	T	-0.335732	0.40826	T	0.385375320911407	0.28389	T	0.783822	0.42110	T	0.07889904	0.17994	0.052509006	0.08664	0.07889904	0.17994	0.052509006	0.08664	-9.923	0.73449	D	0.15624600078300632	0.18785	0.108	0.20313	B	.;.	.;.	3.148810	0.42619	21.6	0.94482303296211978	0.24940	0.51112	0.28820	D	AEFBI	0.362326	0.45162	N	-0.0688766556356983	0.38762	2.275371	-0.151763259108064	0.33341	1.906158	0.00154748438822742	0.08631	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.51	3.48	0.38946	2.862000	0.48087	3.236000	0.36937	0.660000	0.55035	0.776000	0.29426	1.000000	0.68203	0.008000	0.08271	0.0:0.3369:0.5084:0.1547	7.405	0.26160	721	0.55360	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	920.98	38	chr16	2102139	.	G	A	920.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.096;DP=832;ExcessHet=0.0000;FS=13.887;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=32.13;MQRankSum=2.06;QD=20.47;ReadPosRankSum=0.581;SOR=1.202	GT:AD:DP:GQ:PL	0/0:60,0:60:99:0,120,1800	20	0	1	0
chr16	2109076	2109076	C	T	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon15:c.G6091A:p.V2031M	Polycystic kidney disease, adult type I, Autosomal dominant	YES	2	1519	1	0	0	1	0.000329056	.	.	985008	Inborn_genetic_diseases|Polycystic_kidney_disease	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.854	P	0.298	B	0.000	D	0.967	N	1.61	L	0.15	T	-0.809	T	0.164	T	0.401	0.896	8.640	5.49	2.597	2.787	12.759	0.129	0.449234191373	.	.	0.0003	0	0	0	0	0	0	0.0020	0.0002135	33	154602	rs765389584	0.0002	0.0002	0.0001	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	0	0	0	0	1.947e-05	0	1.988e-05	0.0002	0.0024	9.844e-05	9.841e-05	7.706e-05	0.0001	0.0019	6e-05	4.874e-05	0.0010	0.0007	7.214e-05	0	0	0	0	0	0	4.41e-05	0	0.0019	0.287	0.15149	T	0.051	0.47828	T	0.8	0.47077	P	0.298	0.40966	B	0.000226	0.47286	D	0.180303	0.967052	0.25866	N	1.87	0.49600	L	0.15	0.60734	T	-0.28	0.12847	N	0.34	0.39659	-0.8088	0.54623	T	0.164	0.50176	T	10	0.045740277	0.03679	T	0.449234	0.94311	D	0.129	0.35316	0.404	0.43573	0.730922541288	0.72852	0.4800694021578054	0.47926	.	.	0.570616364479	0.48765	T	0.294549	0.66723	T	-0.368727	0.03659	T	-0.308903	0.43776	T	0.0937675096689802	0.11658	T	0.785321	0.42297	T	0.07567366	0.17063	0.06964094	0.14697	0.07567366	0.17063	0.06964094	0.14697	-4.815	0.34823	T	0.20708162621437848	0.27669	0.217	0.44682	B	.;.	.;.	2.617724	0.34010	19.51	0.91222354384019599	0.20479	0.95200	0.63808	D	AEFBI	0.500469	0.53372	D	0.265082471426005	0.54389	3.604568	0.321501633444002	0.56804	3.844483	0.708108518102568	0.22785	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.636168	0.56350	0	.	.	5.49	5.49	0.81022	2.941000	0.48703	3.995000	0.41022	0.584000	0.30380	0.986000	0.36153	0.999000	0.35428	0.295000	0.24381	0.0:0.9248:0.0:0.0752	12.759	0.56730	654	0.62520	PKD domain|PKD/Chitinase domain|Polycystin cation channel;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2052.98	33	chr16	2109076	.	C	T	2052.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=913;ExcessHet=0.0000;FS=3.923;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.94;MQRankSum=0.00;QD=14.06;ReadPosRankSum=1.36;SOR=0.763	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1238	20	0	1	0
chr16	2110621	2110621	C	T	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon15:c.G4546A:p.A1516T	Polycystic kidney disease, adult type I, Autosomal dominant	.	1	1496	23	2	0	27	0.00894336	.	.	255618	PKD1-related_disorder|Polycystic_kidney_disease,_adult_type|not_provided|not_specified	.|MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.84	T	0.083	B	0.022	B	0.123	N	1.000	N	-0.145	N	0.64	T	-1.018	T	0.037	T	0.092	-1.752	0.010	-8.85	-2.511	-1.741	11.277	0.017	0.0659993038222	0.0053	0.00299521	0.0061	0.0012	0.0012	0	0.0081	0.0087	0.0059	0.0046	0.0053945	834	154602	rs148164067	0.0069	0.0069	0.0070	0.0069	0.0080	0.0068	0.0068	0.0073	0.0072	0.0010	0.0012	0.0160	2.52e-05	0.0098	0.0080	0.0074	0.0065	0.0045	0.0050	0.0050	0.0051	0.0049	0.0077	0.0047	0.0046	0.0071	0.0069	0.0013	0	0.0010	0.0153	0	0.0083	0.0068	0.0077	0.0014	0.0041	0.51	0.07497	T	0.508	0.10930	T	0.083	0.24734	B	0.016	0.19653	B	0.123480	0.02747	N	1.724340	1	0.08975	N	-0.105	0.04674	N	0.64	0.52867	T	0.57	0.03463	N	0.155	0.16168	-1.0176	0.24495	T	0.037	0.15856	T	10	0.010074973	0.00226	T	0.065999	0.69747	D	0.017	0.02790	.	.	0.611116408362	0.60798	0.2162103776697939	0.21537	.	.	0.322412252426	0.13786	T	0.13945	0.47348	T	-0.634042	0.00090	T	-0.678688	0.07064	T	0.00426579460975307	0.00045	T	0.285271	0.05070	T	0.021383826	0.00737	0.037577875	0.03441	0.016687732	0.00215	0.036010668	0.02962	-3.478	0.16125	T	0.13576273702676706	0.14786	0.07	0.03479	B	.;.	.;.	-1.641639	0.00220	0.003	0.81336841857660391	0.13635	0.02196	0.06414	N	AEFBI	0.060214	0.11427	N	-1.97069523980725	0.00244	0.01047305	-2.03193924722345	0.00262	0.01155742	0.933205377546563	0.27119	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.36	-8.85	0.00689	-1.711000	0.01987	-3.441000	0.02784	-2.892000	0.00164	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0994:0.2454:0.0:0.6552	11.277	0.48409	650	0.62973	PKD domain|PKD domain|PKD/Chitinase domain|Polycystin cation channel;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	1998.98	33	chr16	2110621	.	C	T	1998.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.67;DP=1384;ExcessHet=0.0000;FS=1.970;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.90;MQRankSum=0.463;QD=12.42;ReadPosRankSum=-1.128e+00;SOR=0.867	GT:AD:DP:GQ:PL	0/0:119,0:119:99:0,120,1800	20	0	1	0
chr16	2114559	2114559	C	T	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon11:c.G2464A:p.A822T	Polycystic kidney disease, adult type I, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.722	P	0.287	B	0.389	N	1.000	N	1.87	L	1.34	T	-1.044	T	0.067	T	0.088	0.557	7.012	-0.252	0.014	0.429	4.325	0.053	0.0748859475093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.409	0.10212	T	0.016	0.60972	D	0.722	0.42387	P	0.114	0.40572	B	0.388731	0.13286	N	0.723810	1	0.08975	N	1.995	0.54099	M	1.34	0.34841	T	-0.23	0.11366	N	0.07	0.04307	-1.0439	0.16148	T	0.067	0.27434	T	10	0.13655707	0.25981	T	0.074886	0.72151	D	0.053	0.14996	0.444	0.50139	0.521978482128	0.51842	0.3006481364912225	0.29977	.	.	0.3477845788	0.17595	T	0.157137	0.49961	T	-0.270064	0.11751	T	-0.625705	0.10743	T	0.122270252905686	0.14650	T	0.619338	0.23774	T	0.023080522	0.01018	0.036331713	0.03060	0.023080522	0.01017	0.036331713	0.03059	-4.596	0.32121	T	0.11573912681494407	0.10389	0.072	0.04396	B	.;.	.;.	1.327236	0.17323	13.09	0.96321956305073342	0.29416	0.49194	0.28378	N	AEFBI	0.105466	0.21073	N	-0.648447961284639	0.17506	0.9013843	-0.730508295607726	0.16203	0.856004	0.00680748599464499	0.11313	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.39	-0.252	0.12357	0.451000	0.21492	-0.763000	0.07527	-0.221000	0.07976	0.037000	0.20830	0.000000	0.08366	0.710000	0.34452	0.2649:0.4086:0.0:0.3266	4.325	0.10478	650	0.62973	Polycystin cation channel;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1583.98	37	chr16	2114559	.	C	T	1583.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.884e+00;DP=812;ExcessHet=0.0000;FS=7.576;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.02;MQRankSum=-2.550e-01;QD=14.67;ReadPosRankSum=0.121;SOR=0.539	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1442	20	0	1	0
chr16	2114921	2114921	G	T	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon11:c.C2102A:p.T701N	Polycystic kidney disease, adult type I, Autosomal dominant	YES	215	1282	23	2	0	27	0.0104207	.	.	919631	not_provided|Polycystic_kidney_disease,_adult_type|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.16	T	0.763	P	0.219	B	0.193	N	1.000	N	1.87	L	1.31	T	-1.051	T	0.078	T	0.076	0.319	5.729	3.09	1.181	1.806	9.643	0.052	0.119057797368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0055	0.0010	0.0014	0.0042	0.0012	0.0011	0.0036	0.0034	0.0002	0.0042	0.0022	0.0015	0.0007	0.0015	0.0010	0.0011	0.0035	6.57e-06	6.566e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.095	0.31235	T	0.107	0.37730	T	0.514	0.43659	P	0.115	0.37734	B	0.192933	0.16798	N	0.604873	1	0.08975	N	2.35	0.67516	M	1.31	0.35405	T	-1.53	0.37178	N	0.226	0.32701	-1.0514	0.14009	T	0.078	0.31103	T	10	0.19567388	0.35429	T	0.119058	0.79926	D	0.052	0.14661	.	.	0.550246613503	0.54680	0.27213226263356766	0.27126	.	.	0.399860799313	0.25050	T	0.286815	0.65960	T	-0.263983	0.12437	T	-0.61697	0.11424	T	0.150881667384249	0.17173	T	0.688631	0.29780	T	0.065850526	0.14113	0.08088498	0.18334	0.065850526	0.14112	0.08088498	0.18334	-5.674	0.43461	T	0.33790161931626944	0.43577	0.105	0.19398	B	.;.	.;.	1.961136	0.24913	16.57	0.50966857304146163	0.04478	0.25707	0.22779	N	AEFBI	0.148006	0.27180	N	-0.571601178771383	0.19811	1.040	-0.661019807721852	0.17938	0.9561094	0.0203117780971335	0.13246	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.21	3.09	0.34677	1.444000	0.34679	6.196000	0.54830	-0.209000	0.08382	0.003000	0.16062	1.000000	0.68203	0.000000	0.00833	0.1485:0.13:0.7214:0.0	9.643	0.39015	650	0.62973	Polycystin cation channel;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	77.9	36	chr16	2114921	.	G	T	77.9	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.320e+00;DP=755;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0481;MLEAC=1;MLEAF=0.024;MQ=41.59;MQRankSum=-1.677e+00;QD=0.59;ReadPosRankSum=0.450;SOR=0.593	GT:AD:DP:GQ:PL	0/0:49,0:49:48:0,48,1316	19	0	2	0
chr16	2153366	2153366	G	A	exonic	RAB26	.	nonsynonymous SNV	RAB26:NM_014353:exon9:c.G716A:p.R239Q	.	.	423	1096	3	0	0	3	0.00136674	.	.	2754444	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.85	T	0.001	B	0.001	B	0.080	N	0.800	N	-0.87	N	0.1	T	-0.994	T	0.059	T	0.221	-0.134	3.344	-0.414	0.084	0.774	7.070	0.046	0.0147437875892	0.0002	0.000199681	0.0003	9.878e-05	8.661e-05	0.0001	0	0.0003	0	0.0010	0.0002587	40	154602	rs138528554	0.0001	0.0001	9.805e-05	0.0002	0.0023	0.0001	0.0001	0.0013	0.0011	0	0.0002	0	0	0	0.0023	8.903e-05	0.0001	0.0008	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0001	0.0004	0.0003	7.217e-05	0	0.0003	0	0.0002	0	0.0034	0.0002	0.0019	0.0010	0.898	0.02442	T	0.666	0.06386	T	0.001	0.07471	B	0.001	0.04355	B	0.079914	0.20955	N	0.390904	0.799908	0.29127	N	0.24	0.09707	N	-0.04	0.63240	T	0.52	0.02853	N	0.17	0.18103	-0.9935	0.31696	T	0.059	0.24723	T	10	0.0118281245	0.00257	T	0.014744	0.35052	T	0.046	0.12618	.	.	0.39208347742	0.38818	0.3216279219071076	0.32075	0.13996330157	0.15771	0.208601802588	0.00753	T	0.018034	0.14606	T	-0.463346	0.00937	T	-0.511145	0.21197	T	0.0148441537595287	0.00313	T	0.842916	0.53348	T	0.025269208	0.01447	0.036618523	0.03146	0.025269208	0.01446	0.036618523	0.03145	-6.96	0.53741	T	.	.	0.086	0.10739	B	.;.	.;.	1.079174	0.14619	11.18	0.8563789146367099	0.16018	0.24184	0.22314	N	ALL	0.159268	0.28505	N	-1.14528152465574	0.05857	0.2681529	-1.02760811214317	0.09180	0.4553006	0.999999995632253	0.74766	0.468429	0.09910	2	0.484254	0.07192	0	0.504199	0.09095	0	0.264475	0.05362	3	.	.	4.42	-0.414	0.11743	0.436000	0.21244	-0.443000	0.09147	-0.185000	0.09859	0.677000	0.28411	0.001000	0.17328	0.252000	0.23314	0.612:0.0:0.388:0.0	7.070	0.24350	561	0.71236	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1111.98	40	chr16	2153366	.	G	A	1111.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.15;DP=856;ExcessHet=0.0000;FS=2.630;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.02;ReadPosRankSum=0.542;SOR=1.022	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1147	20	0	1	0
chr16	2179616	2179616	G	A	exonic	CASKIN1	.	nonsynonymous SNV	CASKIN1:NM_020764:exon18:c.C3752T:p.P1251L,	.	.	423	1088	11	0	0	11	0.00502972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.992	D	.	.	1.000	D	1.67	L	0.23	T	-0.592	T	0.223	T	0.253	2.149	13.14	3.46	1.749	5.682	8.189	0.396	.	0.0043	0.00299521	0.0223	0.0048	0.0073	0	0.0641	0.0297	0	0.035	0.0033247	514	154602	rs201211065	0.0082	0.0077	0.0084	0.0079	0.0092	0.0080	0.0080	0.0091	0.0090	0.0010	0.0013	0.0006	0	0.0078	0.0030	0.0092	0.0061	0.0050	0.0048	0.0048	0.0051	0.0045	0.0078	0.0045	0.0044	0.0073	0.0071	0.0016	0.0011	0.0020	0.0012	0	0.0075	0	0.0078	0.0014	0.0035	0.001	0.78490	D	0.016	0.60972	D	1.0	0.90584	D	0.992	0.80445	D	.	.	.	.	1	0.81001	D	2.25	0.63811	M	0.23	0.59717	T	-4.11	0.74980	D	0.506	0.53796	-0.5923	0.65128	T	0.223	0.58678	T	9	0.008794069	0.00199	T	.	.	.	0.396	0.71084	.	.	0.719674194334	0.71720	0.1309779199915567	0.13022	0.978654125277	0.73649	0.809084296227	0.83352	D	0.122975	0.44702	T	-0.35826	0.04229	T	-0.275715	0.47241	T	0.0228644197563702	0.01008	T	0.861714	0.55578	D	0.2658684	0.49657	0.26620787	0.52463	0.2658684	0.49656	0.26620787	0.52463	-3.902	0.22333	T	.	.	0.103	0.18497	B	.	.	5.044760	0.83989	28.2	0.99796499765478697	0.88194	0.94804	0.62386	D	AEFBI	0.654735	0.62732	D	0.524517995812425	0.68544	5.231846	0.458619277844003	0.65274	4.802945	0.994406536393526	0.33622	0.676563	0.55306	0	0.550933	0.16991	0	0.673471	0.61138	0	0.562822	0.20929	0	.	.	3.46	3.46	0.38718	5.879000	0.69436	9.581000	0.81029	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.1121:0.0:0.8878:0.0	8.189	0.30518	645	0.63593	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	899.98	36	chr16	2179616	.	G	A	899.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=761;ExcessHet=0.0000;FS=7.297;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.71;ReadPosRankSum=2.66;SOR=0.353	GT:AD:DP:GQ:PL	0/0:28,0:28:84:0,84,812	20	0	1	0
chr16	2181251	2181251	G	A	exonic	CASKIN1	.	nonsynonymous SNV	CASKIN1:NM_020764:exon18:c.C2117T:p.S706L,	.	.	414	1104	4	0	0	4	0.00180832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.823	P	.	.	0.934	D	1.7	L	-0.87	T	0.085	D	0.461	T	0.497	2.316	13.70	4.36	2.255	2.742	15.608	0.356	0.327442115516	0.0004	.	0.0008	0	0.0004	0	0	0.0010	0.0016	0.0013	0.0005757	89	154602	rs201599923	0.0005	0.0005	0.0005	0.0005	0.0012	0.0005	0.0005	0.0008	0.0008	3.003e-05	0.0006	0.0088	0	2.391e-05	0.0012	0.0003	0.0009	0.0010	0.0005	0.0005	0.0006	0.0005	0.0012	0.0004	0.0004	0.0008	0.0007	0.0001	0	0.0012	0.0084	0	0	0	0.0003	0.0019	0.0004	0.0	0.91255	D	0.002	0.79402	D	0.999	0.77913	D	0.823	0.59197	P	.	.	.	.	0.93438	0.37086	D	2.835	0.82492	M	-0.87	0.74583	T	-3.52	0.68412	D	0.577	0.59901	0.085	0.83901	D	0.461	0.79083	T	9	0.015591562	0.00327	T	0.327442	0.91653	D	0.356	0.67691	.	.	0.680576452069	0.67785	0.24430633137355906	0.24344	0.908973883068	0.70969	0.688389718533	0.65474	T	0.256561	0.62749	T	-0.200054	0.20796	T	-0.126261	0.61284	T	0.0835097838006507	0.10430	T	0.836316	0.50742	T	0.41777763	0.61944	0.54894245	0.73922	0.41777763	0.61944	0.54894245	0.73923	-13.021	0.89451	D	.	.	0.529	0.65877	A	.	.	4.811163	0.78275	26.9	0.99866097324157022	0.94457	0.91095	0.52850	D	AEFBI	0.472874	0.51780	N	0.496678498786778	0.66896	5.009831	0.4667712420424	0.65802	4.869915	0.187162154472355	0.17952	0.554377	0.28877	0	0.588066	0.40923	0	0.584781	0.30282	0	0.562822	0.20929	0	.	.	4.36	4.36	0.51643	5.257000	0.65294	11.741000	0.95195	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.896000	0.43308	0.0:0.0:1.0:0.0	15.608	0.76433	650	0.62973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1612.08	34	chr16	2181251	.	G	A	1612.08	.	AC=2;AF=0.048;AN=42;DP=774;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.24;SOR=0.859	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1472	20	1	0	0
chr16	2181850	2181850	A	G	exonic	CASKIN1	.	nonsynonymous SNV	CASKIN1:NM_020764:exon17:c.T1709C:p.I570T,	.	.	418	1102	1	1	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.995	D	.	.	1.000	D	2.22	M	0.73	T	-0.495	T	0.273	T	0.539	3.704	18.82	4.37	1.845	9.000	12.520	0.423	0.190853773312	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1180223456	5.474e-06	5.472e-06	4.085e-06	6.877e-06	0.0007	2.36e-06	1.7e-06	0.0002	0.0001	0	0	0	0	0	0.0007	8.993e-07	4.968e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	0.999	0.77913	D	0.995	0.83170	D	.	.	.	.	1	0.81001	D	2.455	0.71248	M	0.73	0.50721	T	-4.06	0.74582	D	0.795	0.79118	-0.4950	0.68829	T	0.273	0.64443	T	9	0.8851812	0.87844	D	0.190854	0.86149	D	0.423	0.73152	0.644	0.78117	0.588407502108	0.58516	0.8290150215270188	0.82859	1.08794106341	0.77349	0.762580931187	0.76314	T	0.41186	0.76619	T	0.0382918	0.56822	T	-0.182773	0.56267	T	0.992641985416412	0.83178	D	0.924208	0.72277	D	0.69940186	0.78024	0.6333436	0.78602	0.69940186	0.78025	0.6333436	0.78603	-12.845	0.88714	D	.	.	0.363	0.57430	A	.	.	4.585353	0.72484	25.8	0.99757330882894979	0.84772	0.99137	0.91770	D	AEFGBI	0.867434	0.78720	D	0.633031174269061	0.75273	6.277234	0.539446383157934	0.70665	5.538921	0.999985937866404	0.51787	0.741868	0.97996	0	0.694456	0.67091	0	0.774882	0.98623	0	0.567892	0.33627	0	.	.	4.37	4.37	0.51830	9.187000	0.94037	11.043000	0.85201	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.819000	0.38590	1.0:0.0:0.0:0.0	12.520	0.55394	650	0.62973	Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Caskin1/2, SAM repeat 2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1933.98	34	chr16	2181850	.	A	G	1933.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.300e-01;DP=906;ExcessHet=0.0000;FS=4.027;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.30;ReadPosRankSum=1.29;SOR=0.979	GT:AD:DP:GQ:PL	0/1:121,87:208:99:1948,0,3058	20	0	1	0
chr16	2209409	2209409	G	A	exonic	BRICD5	.	nonsynonymous SNV	BRICD5:NM_182563:exon6:c.C640T:p.P214S,	.	.	419	1091	11	1	0	13	0.00592255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	1.0	D	0.000	D	1.000	D	.	.	1.18	T	-0.627	T	0.257	T	0.914	5.730	36	5.95	2.819	7.591	18.941	0.568	.	0.0025	0.00279553	0.0035	0.0006	0.0006	0	0.0023	0.0033	0.0089	0.0099	0.0033829	523	154602	rs111384111	0.0041	0.0041	0.0039	0.0044	0.0096	0.0040	0.0040	0.0091	0.0089	0.0007	0.0012	0.0045	2.519e-05	0.0025	0.0038	0.0041	0.0039	0.0096	0.0027	0.0027	0.0026	0.0028	0.0112	0.0025	0.0024	0.0088	0.0080	0.0006	0	0.0004	0.0032	0.0002	0.0040	0	0.0041	0.0014	0.0112	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.04	0.26193	L	1.18	0.57729	T	-7.67	0.95542	D	0.876	0.87373	-0.6273	0.63685	T	0.257	0.62766	T	9	0.012677997	0.00272	T	.	.	.	0.568	0.82403	.	.	0.514866526686	0.51127	0.7733543317739106	0.77285	0.00862090980284	0.00783	0.689933955669	0.65696	T	0.288565	0.66136	T	-0.00576028	0.50859	T	0.226911	0.84518	D	0.0502794755037764	0.05550	T	0.808919	0.74830	T	0.84051114	0.86644	0.79701805	0.88082	0.84051114	0.86646	0.79701805	0.88083	-1.997	0.03169	T	.	.	0.786	0.76654	P	.;.	.;.	4.669586	0.74619	26.2	0.99923942622440587	0.98917	0.92882	0.56778	D	AEFDBHCI	0.919356	0.88977	D	0.822762409053925	0.87508	9.242129	0.84262630711285	0.92578	11.50794	1.0	0.98316	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	5.95	5.95	0.96415	9.541000	0.97178	11.725000	0.94886	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	18.941	0.92581	628	0.65206	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1328.98	34	chr16	2209409	.	G	A	1328.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.865;DP=814;ExcessHet=0.0000;FS=1.559;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=-2.990e-01;SOR=0.516	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1261	20	0	1	0
chr16	2210199	2210199	C	T	exonic	BRICD5	.	nonsynonymous SNV	BRICD5:NM_182563:exon3:c.G263A:p.R88Q,	.	.	417	1102	3	0	0	3	0.00135931	.	.	2432102	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.84	T	0.014	B	0.008	B	0.704	N	1.000	N	0.235	N	1.79	T	-0.934	T	0.029	T	0.122	0.315	5.707	-10.5	-2.762	-2.352	17.130	0.061	0.0112936080977	0.0002	0.000199681	0.0003	0	0	0.0002	0	0.0004	0	0.0005	0.0001811	28	154602	rs145075016	0.0002	0.0002	0.0001	0.0002	0.0007	0.0001	0.0001	0.0003	0.0002	3.004e-05	0	0	5.122e-05	2.124e-05	0.0007	0.0002	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0006	8.162e-05	6.719e-05	0.0002	8.996e-05	4.81e-05	0	0	0	0.0002	0	0	0.0002	0	0.0006	0.554	0.09776	T	0.356	0.18903	T	0.014	0.16867	B	0.008	0.13708	B	0.703577	0.06217	N	1.148330	0.99999	0.08975	N	0.295	0.10161	N	1.79	0.36512	T	-0.82	0.22508	N	0.156	0.16168	-0.9339	0.43560	T	0.029	0.12365	T	10	0.011246651	0.00247	T	0.011294	0.28764	T	0.061	0.17616	.	.	0.162503812791	0.15892	0.27715231422371867	0.27628	0.00235242544378	0.00204	0.178914874792	0.00084	T	0.012411	0.10917	T	-0.520318	0.00438	T	-0.682048	0.06859	T	0.0129329883590426	0.00223	T	0.577942	0.21195	T	0.022484748	0.00914	0.037622582	0.03453	0.022484748	0.00914	0.037622582	0.03453	-3.447	0.15987	T	.	.	0.063	0.01470	B	.;.;.	.;.;.	-1.084230	0.00660	0.018	0.85802293258223405	0.16121	0.02141	0.06307	N	AEFBHCI	0.066205	0.12953	N	-2.20679838131413	0.00074	0.003169113	-2.28537038370099	0.00072	0.003145182	0.999999999993484	0.74766	0.634777	0.41761	0	0.552637	0.17590	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	5.25	-10.5	0.00234	-1.569000	0.02246	-5.311000	0.01766	-2.886000	0.00165	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.27:0.0:0.73	17.130	0.86602	624	0.65661	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1224.98	34	chr16	2210199	.	C	T	1224.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.260e-01;DP=820;ExcessHet=0.0000;FS=2.452;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=2.37;SOR=0.498	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,114,1710	20	0	1	0
chr16	2210256	2210256	G	A	exonic	BRICD5	.	nonsynonymous SNV	BRICD5:NM_182563:exon3:c.C206T:p.T69I,	.	.	429	1069	22	2	0	26	0.0120148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.997	D	0.879	P	0.001	D	0.999	N	1.2	L	1.52	T	-1.010	T	0.113	T	0.55	3.406	17.50	3.25	0.684	1.086	13.998	0.100	0.0492965980763	0.0010	0.00219649	0.0039	0.0003	0	0	0	0.0025	0	0.0090	0.0010673	165	154602	rs141543452	0.0010	0.0010	0.0008	0.0011	0.0066	0.0009	0.0009	0.0061	0.0060	0.0002	0.0006	0.0066	0	2.567e-05	0.0064	0.0005	0.0017	0.0066	0.0010	0.0010	0.0010	0.0009	0.0070	0.0008	0.0008	0.0052	0.0045	9.623e-05	0	0.0006	0.0078	0	9.406e-05	0.0068	0.0010	0.0028	0.0070	0.002	0.72154	D	0.003	0.76473	D	0.993	0.70673	D	0.857	0.62418	P	0.000594	0.43095	D	0.194129	0.99933	0.21346	N	2.69	0.78713	M	1.52	0.55090	T	-4.33	0.86073	D	0.554	0.60579	-1.0101	0.26886	T	0.113	0.40445	T	10	0.007837057	0.00178	T	0.049297	0.63750	D	0.100	0.28662	.	.	0.340992353424	0.33714	0.5999177373485299	0.59922	0.00771376137905	0.00687	0.353625118732	0.18454	T	0.212025	0.57296	T	-0.346497	0.04951	T	-0.267466	0.48076	T	0.129633475940984	0.15348	T	0.70163	0.31127	T	0.37083742	0.58647	0.49056876	0.70528	0.37083742	0.58647	0.49056876	0.70528	-4.893	0.35656	T	.	.	0.231	0.54543	B	.;.;.	.;.;.	3.013803	0.40311	21.1	0.99650550323497544	0.77254	0.26358	0.22970	N	AEFBHCI	0.123498	0.23913	N	-0.171665706498783	0.34317	1.957347	-0.31576569438447	0.27590	1.531973	0.999998881120072	0.74766	0.460665	0.09802	0	0.552637	0.17590	0	0.584781	0.30282	0	0.636168	0.56350	0	.	.	5.25	3.25	0.36363	0.829000	0.27102	4.625000	0.44092	0.676000	0.76740	0.082000	0.22389	1.000000	0.68203	0.046000	0.14843	0.0:0.2888:0.7112:0.0	13.998	0.63929	624	0.65661	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	930.98	34	chr16	2210256	.	G	A	930.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.700e-01;DP=784;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.25;ReadPosRankSum=2.40;SOR=0.670	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,114,1710	20	0	1	0
chr16	2234685	2234685	G	A	exonic	E4F1	.	nonsynonymous SNV	E4F1:NM_001288778:exon9:c.G1165A:p.V389M	.	.	404	1116	2	0	0	2	0.000895255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.999	D	0.923	D	0.000	D	0.984	D	-0.63	N	1.26	T	-1.040	T	0.065	T	0.401	0.959	8.911	4.42	2.528	5.171	6.218	0.187	0.0241827009614	.	.	2.979e-05	0	0	0	0	6.252e-05	0	0	6.5e-06	1	154602	rs759971546	1.261e-05	1.368e-05	1.388e-05	1.132e-05	0.0004	7.88e-06	6.5e-06	6.536e-05	2.649e-05	3.052e-05	0	0	0	0	0.0004	1.371e-05	0	0	6.569e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.163	0.25873	T	0.254	0.29945	T	0.999	0.77913	D	0.923	0.65830	D	0.000014	0.62929	D	0.109289	0.984148	0.40106	D	-0.23	0.03940	N	1.26	0.36330	T	-0.05	0.21215	N	0.376	0.43029	-1.0405	0.17162	T	0.065	0.26913	T	10	0.28639862	0.46222	T	0.024183	0.47165	T	0.187	0.46274	0.358	0.36060	0.563544018958	0.56017	0.2853184550342537	0.28444	1.15164051765	0.79219	0.800744652748	0.82077	T	0.057284	0.30523	T	-0.099907	0.36441	T	-0.381286	0.35571	T	0.212548702930661	0.21086	T	0.923008	0.71997	D	0.046642225	0.07841	0.05466986	0.09447	0.046642225	0.07840	0.05466986	0.09447	-8.67	0.65550	D	.	.	0.417	0.71423	A	.;.;.	.;.;.	5.172848	0.86713	29.0	0.85738063313921842	0.16081	0.86916	0.46306	D	AEFBHCI	0.465993	0.51383	N	0.355304769454034	0.59019	4.078168	0.431717389338302	0.63550	4.591152	0.999998752134276	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.38	4.42	0.52775	5.211000	0.65052	7.500000	0.59476	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.314000	0.24830	0.2396:0.0:0.7604:0.0	6.218	0.19875	542	0.72843	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1722.98	41	chr16	2234685	.	G	A	1722.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.71;DP=908;ExcessHet=0.0000;FS=3.654;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.77;ReadPosRankSum=-7.780e-01;SOR=0.984	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1297	20	0	1	0
chr16	2243113	2243113	C	G	exonic	ECI1	.	nonsynonymous SNV	ECI1:NM_001178029:exon6:c.G624C:p.Q208H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.984	D	0.687	P	0.005	N	0.921	D	1.78	L	-0.37	T	-0.588	T	0.280	T	0.368	3.680	18.70	1.93	0.278	1.474	8.229	0.228	0.0252959807173	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1275332603	4.127e-06	4.788e-06	5.478e-06	2.764e-06	5.397e-06	1.48e-06	9.8e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.397e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.72154	D	0.011	0.64786	D	0.41	0.60733	B	0.079	0.53665	B	0.005153	0.33053	N	0.325221	0.896816	0.36684	D	1.76	0.45711	L	-0.37	0.68892	T	-3.35	0.66436	D	0.405	0.44952	-0.5878	0.65308	T	0.280	0.65199	T	10	0.44234157	0.58180	T	0.025296	0.48274	D	0.228	0.52768	0.539	0.65018	0.521917627825	0.51837	0.8640712967216427	0.86371	0.114875971495	0.12958	0.264594018459	0.05451	T	0.408066	0.76350	T	-0.0162323	0.49389	T	-0.261093	0.48716	T	0.762332856655121	0.43986	D	0.752925	0.40827	T	0.40889648	0.61343	0.3063998	0.56665	0.40889648	0.61344	0.3063998	0.56664	-7.061	0.54478	T	.	.	0.287	0.51942	B	.;.;.;.	.;.;.;.	2.031302	0.25816	16.90	0.99550874682201151	0.71148	0.88756	0.48837	D	AEFBCI	0.593231	0.58863	D	-0.13839163023586	0.35730	2.056045	-0.124833577960037	0.34391	1.97778	0.954948328621518	0.28160	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.99	1.93	0.24985	1.516000	0.35463	0.420000	0.18209	-0.217000	0.08171	0.986000	0.36153	0.984000	0.30665	0.715000	0.34611	0.0:0.6157:0.3006:0.0837	8.229	0.30748	555	0.71762	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	379.98	31	chr16	2243113	.	C	G	379.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.648e+00;DP=726;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.84;ReadPosRankSum=-3.400e-01;SOR=0.784	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1100	20	0	1	0
chr16	2246926	2246926	G	A	exonic	ECI1	.	nonsynonymous SNV	ECI1:NM_001178029:exon3:c.C227T:p.T76M	.	.	429	1039	50	4	0	58	0.0271536	.	.	967234	Complex_I_deficiency	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.1	T	0.962	D	0.344	B	0.000	N	1.000	D	2.01	M	-0.37	T	-0.712	T	0.228	T	0.795	1.171	9.763	3.22	0.761	6.033	9.082	0.425	.	0.0028	0.00658946	0.0083	0.0006	0.0030	0	0.0017	0.0055	0.0089	0.0349	0.007432	1149	154602	rs112729404	0.0053	0.0053	0.0042	0.0064	0.0349	0.0052	0.0051	0.0338	0.0334	0.0010	0.0021	0.0174	7.557e-05	0.0016	0.0282	0.0031	0.0067	0.0349	0.0036	0.0036	0.0032	0.0041	0.0299	0.0034	0.0033	0.0259	0.0244	0.0007	0	0.0026	0.0135	0.0004	0.0012	0.0646	0.0037	0.0033	0.0299	0.072	0.34982	T	0.072	0.48336	T	0.943	0.55554	P	0.344	0.42549	B	0.000000	0.84330	N	0.050039	1	0.81001	D	2.23	0.63091	M	-0.37	0.68892	T	-3.35	0.66436	D	0.467	0.51851	-0.7118	0.59864	T	0.228	0.59372	T	10	0.0073796213	0.00168	T	.	.	.	0.425	0.73299	.	.	0.353125101423	0.34923	0.791210419671449	0.79073	0.23438854129	0.25976	0.49139213562	0.37632	T	0.400195	0.75784	T	-0.173626	0.24687	T	0.00358432	0.70568	D	0.0677868819702007	0.08337	T	0.89861	0.64536	D	0.44832537	0.63935	0.29479742	0.55511	0.44832537	0.63936	0.29479742	0.55510	-7.575	0.58136	D	.	.	0.157	0.46949	B	.;.;.;.	.;.;.;.	3.230173	0.44050	21.9	0.88066581068473471	0.17691	0.95841	0.66383	D	AEFBCI	0.818677	0.73988	D	-0.134269476967074	0.35905	2.068471	-0.218506891995213	0.30872	1.742091	0.605736620092496	0.21763	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.21	3.22	0.36041	6.130000	0.71403	8.347000	0.77005	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.045000	0.14751	0.0817:0.1478:0.7705:0.0	9.082	0.35717	556	0.71678	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	793.98	36	chr16	2246926	.	G	A	793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.63;DP=832;ExcessHet=0.0000;FS=1.835;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.45;ReadPosRankSum=0.655;SOR=0.792	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1143	20	0	1	0
chr16	2462503	2462503	G	A	exonic	TEDC2	.	nonsynonymous SNV	TEDC2:NM_025108:exon7:c.G839A:p.R280H,	.	.	411	1109	2	0	0	2	0.000900901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.999	D	0.994	D	0.350	N	1.000	N	1.24	L	0.93	T	-0.998	T	0.155	T	0.249	2.042	12.78	1.42	0.119	-0.257	7.097	0.020	0.0170810927594	0.0021	0.00119808	0.0020	0.0007	0.0028	0	0.0029	0.0024	0.0051	0.0012	0.0019534	302	154602	rs11552287	0.0024	0.0024	0.0025	0.0023	0.0053	0.0023	0.0023	0.0038	0.0033	0.0008	0.0018	0.0012	0	0.0024	0.0053	0.0027	0.0019	0.0011	0.0019	0.0019	0.0020	0.0018	0.0027	0.0017	0.0016	0.0022	0.0020	0.0007	0	0.0027	0.0012	0	0.0024	0.0136	0.0025	0.0052	0.0006	0.286	0.26300	T	0.432	0.21210	T	0.194	0.39465	B	0.033	0.28532	B	0.350370	0.13825	N	0.634152	1	0.08975	N	.	.	.	0.93	0.44856	T	-1.03	0.28703	N	0.125	0.14622	-0.9977	0.30563	T	0.155	0.48619	T	10	0.0045146346	0.00093	T	0.017081	0.38630	T	0.020	0.03691	.	.	0.430126000877	0.42631	0.1236480252488061	0.12290	0.153881245274	0.17371	.	.	.	0.014211	0.17791	T	-0.523066	0.00422	T	-0.527803	0.19506	T	0.00335785764622807	0.00035	T	0.762324	0.38756	T	0.031681206	0.03051	0.03232892	0.01950	0.031681206	0.03051	0.03232892	0.01950	-4.917	0.41407	T	.	.	0.093	0.20663	B	.;.;.;.;.;.	.;.;.;.;.;.	2.200274	0.28064	17.67	0.99601870420330418	0.74278	0.02601	0.07169	N	AEFBI	0.062804	0.12096	N	-0.634244052437226	0.17922	0.9263802	-0.761194040747654	0.15447	0.8124844	0.990792268115052	0.32272	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.52	1.42	0.21524	0.082000	0.14697	0.536000	0.19291	0.672000	0.70159	0.000000	0.06391	0.005000	0.19230	0.047000	0.14932	0.3847:0.0:0.6153:0.0	7.097	0.24493	711	0.56613	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1359.98	35	chr16	2462503	.	G	A	1359.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.334;DP=922;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.00;ReadPosRankSum=0.244;SOR=0.626	GT:AD:DP:GQ:PL	0/0:60,0:60:99:0,120,1800	20	0	1	0
chr16	2464630	2464630	C	T	exonic	TEDC2	.	nonsynonymous SNV	TEDC2:NM_025108:exon10:c.C1264T:p.R422C,	.	.	409	1076	34	3	0	40	0.0182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.049	B	0.008	B	0.465	N	1.000	N	1.735	L	0.71	T	-0.975	T	0.074	T	0.297	2.565	14.54	1.15	0.456	0.156	3.475	0.040	.	0.0054	0.00519169	0.0088	0.0014	0.0028	0	0.0239	0.0100	0.0060	0.0119	0.0079688	1232	154602	rs72768723	0.0071	0.0071	0.0069	0.0073	0.0161	0.0070	0.0070	0.0135	0.0125	0.0014	0.0032	0.0080	0	0.0193	0.0161	0.0068	0.0081	0.0101	0.0059	0.0059	0.0052	0.0066	0.0073	0.0056	0.0055	0.0061	0.0059	0.0013	0	0.0057	0.0104	0.0002	0.0202	0.0137	0.0066	0.0080	0.0073	0.003	0.68238	D	0.001	0.83351	D	0.049	0.22227	B	0.008	0.13708	B	0.464993	0.12346	N	0.722332	1	0.08975	N	.	.	.	0.71	0.51228	T	-4.08	0.74742	D	0.221	0.24758	-0.9751	0.36104	T	0.074	0.29739	T	10	0.0042487085	0.00085	T	.	.	.	0.040	0.10527	.	.	0.582293646009	0.57902	0.29318303773211113	0.29231	0.553608707389	0.52127	.	.	.	0.077173	0.35591	T	-0.479382	0.00745	T	-0.451981	0.27477	T	0.0354814574228661	0.02890	T	0.784022	0.42156	T	0.28052235	0.51099	0.16465454	0.38132	0.28052235	0.51098	0.16465454	0.38131	-5.717	0.43845	T	.	.	0.158	0.35204	B	.;.	.;.	2.178234	0.27765	17.57	0.99691153425546586	0.79977	0.10164	0.15745	N	AEFDGBHCI	0.120056	0.23405	N	-0.800832403474442	0.13289	0.6535961	-0.876775266829197	0.12646	0.6516711	0.999789446195623	0.43007	0.634777	0.41761	0	0.606735	0.50208	0	0.643519	0.47002	0	0.592323	0.36904	0	.	.	4.44	1.15	0.19876	0.159000	0.16258	-0.008000	0.13101	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.045000	0.14751	0.1996:0.5832:0.0:0.2172	3.475	0.07147	709	0.56835	.;.	.	.	.	.	rs72768723	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	477.98	33	chr16	2464630	.	C	T	477.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.317;DP=749;ExcessHet=0.0000;FS=7.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.39;ReadPosRankSum=0.812;SOR=0.525	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1066	20	0	1	0
chr16	2496440	2496440	A	G	exonic	TBC1D24	.	nonsynonymous SNV	TBC1D24:NM_001199107:exon2:c.A292G:p.N98D	DOOR syndrome, Autosomal recessive;Deafness , autosomal recessive 86, Autosomal recessive;Deafness, autosomal dominant 65, Autosomal dominant;Epileptic encephalopathy, early infantile, 16, Autosomal recessive;Myoclonic epilepsy, infantile, familial, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.004	B	0.005	B	0.000	D	0.955	N	-0.41	N	1.95	T	-0.983	T	0.020	T	0.024	0.910	8.702	3.33	0.962	1.407	8.056	0.069	0.00682597880055	.	.	3.361e-05	0	0	0	0.0005	0	0.0011	0	2.59e-05	4	154602	rs759779506	1.233e-05	1.231e-05	1.227e-05	1.239e-05	.	7.7e-06	6.36e-06	.	.	0	0	0	0	0.0003	0	0	0	0	3.284e-05	3.283e-05	0	6.722e-05	.	1.26e-05	7.98e-06	.	.	0	0	0	0	0	0.0005	0	0	0	0	0.612	0.05618	T	0.991	0.03152	T	0.003	0.12183	B	0.003	0.11217	B	0.000022	0.55875	D	0.155742	0.954891	0.26353	N	0.145	0.08828	N	1.93	0.32238	T	0.19	0.04947	N	0.088	0.06587	-0.9829	0.34328	T	0.020	0.08220	T	10	0.059258193	0.07096	T	0.006826	0.18037	T	0.069	0.20116	0.504	0.59770	0.474876406573	0.47116	0.5983096936542495	0.59761	0.382782754589	0.53457	0.605589985847	0.53693	T	0.002883	0.02278	T	-0.344571	0.05078	T	-0.732729	0.04205	T	0.0597185678780079	0.07125	T	0.820618	0.47957	T	0.07579285	0.17098	0.11065208	0.26682	0.07579285	0.17098	0.11065208	0.26681	-4.063	0.25951	T	0.09057102757234856	0.05655	0.062	0.02993	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.740032	0.22144	15.50	0.9479623689979666	0.25540	0.55630	0.29912	D	AEFDBI	0.109675	0.21776	N	-0.55213477398623	0.20418	1.076138	-0.320187761491225	0.27446	1.523085	0.267541172196447	0.18857	0.617157	0.39670	1	0.653731	0.59785	0	0.786243	0.99158	0	0.635551	0.53088	0	.	.	5.6	3.33	0.37245	1.434000	0.34567	3.903000	0.40362	0.734000	0.85920	0.952000	0.33172	1.000000	0.68203	0.952000	0.50033	0.7677:0.0:0.2323:0.0	8.056	0.29769	706	0.57215	Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2594.98	34	chr16	2496440	.	A	G	2594.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.888;DP=931;ExcessHet=0.0000;FS=2.253;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=0.648;SOR=0.701	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1295	20	0	1	0
chr16	2530278	2530278	G	A	exonic	AMDHD2	.	nonsynonymous SNV	AMDHD2:NM_001145815:exon11:c.G1304A:p.G435D,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.031	B	0.039	B	.	.	1.000	N	0	N	0.87	T	-1.027	T	0.051	T	0.264	1.996	12.63	1.24	0.512	1.553	4.890	0.066	0.00692160565385	0.0004	0.000399361	0.0004	0	9.773e-05	0	0	0.0005	0	0.0011	0.0003687	57	154602	rs373215016	0.0003	0.0003	0.0002	0.0003	0.0023	0.0002	0.0002	0.0013	0.0011	2.988e-05	0.0002	0	0	1.888e-05	0.0023	0.0002	0.0003	0.0010	0.0002	0.0002	0.0002	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	2.406e-05	0	0.0006	0	0	0	0	0.0003	0.0005	0.0006	0.028	0.53172	D	0.0	0.92824	D	0.031	0.20130	B	0.039	0.23607	B	.	.	.	.	1	0.08975	N	.	.	.	0.87	0.46412	T	0.25	0.04456	N	0.389	0.43029	-1.0272	0.21363	T	0.051	0.21767	T	9	0.009433448	0.00213	T	0.006922	0.18317	T	0.066	0.19193	.	.	0.130388298395	0.12655	0.3217843884006797	0.32091	0.0037235386755	0.00321	0.298096954823	0.10118	T	0.102144	0.40957	T	-0.465684	0.00905	T	-0.498047	0.22551	T	0.0179290772020839	0.00519	T	0.253475	0.03884	T	.	.	.	.	.	.	.	.	-5.478	0.41662	T	.	.	0.171	0.37501	B	.;.	.;.	0.292295	0.06685	3.189	0.98914529734920043	0.48436	0.18682	0.20360	N	AEFBCI	0.055435	0.10165	N	-0.987579190928128	0.08868	0.4174778	-1.0361348399945	0.08997	0.4452971	0.987192077968504	0.31207	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	2.21	1.24	0.20416	1.401000	0.34198	1.300000	0.25468	-0.158000	0.11653	0.005000	0.17040	0.015000	0.20450	0.001000	0.02609	0.1789:0.0:0.8211:0.0	4.890	0.13077	759	0.50631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1539.98	37	chr16	2530278	.	G	A	1539.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.79;DP=843;ExcessHet=0.0000;FS=6.054;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=-1.120e+00;SOR=1.236	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1241	20	0	1	0
chr16	2530684	2530684	T	G	exonic	AMDHD2;CEMP1	.	nonsynonymous SNV	AMDHD2:NM_001145815:exon11:c.T1710G:p.D570E,	.	.	409	1109	4	0	0	4	0.00180018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.002	B	0.001	B	.	.	1.000	N	.	.	.	.	-1.016	T	0.064	T	0.01	0.102	4.551	-2.88	-0.825	-0.071	3.424	0.034	0.00705527406933	0.0005	.	0.0003	0.0001	0.0003	0	0	0.0005	0	0.0001	0.0003428	53	154602	rs200546798	0.0006	0.0006	0.0006	0.0005	0.0007	0.0005	0.0005	0.0006	0.0006	0.0001	0.0003	0	0	7.497e-05	0.0002	0.0007	0.0010	9.275e-05	0.0003	0.0003	0.0004	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0001	0	0.0001	0	0	9.423e-05	0	0.0006	0	0	0.0	0.91255	D	.	.	.	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.01	0.07155	N	0.101	0.08366	-1.0157	0.25110	T	0.064	0.26456	T	7	0.023994029	0.00645	T	0.007055	0.18676	T	0.034	0.08419	0.175	0.08135	0.1749357433	0.17121	0.009634628841564331	0.00925	0.00420445280622	0.00371	0.302809298038	0.10821	T	.	.	.	-0.623531	0.00105	T	-0.742549	0.03784	T	0.00574736856896606	0.00063	T	0.19558	0.02146	T	.	.	.	.	.	.	.	.	-2.716	0.07438	T	.	.	0.098	0.16099	B	.	.	-0.107285	0.03600	0.705	0.47355509382007549	0.03865	0.03378	0.08480	N	AEFBCI	.	.	.	-1.43877813674111	0.02306	0.1016876	-1.57962143374074	0.01780	0.081014	0.999996785225001	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	1.96	-2.88	0.05342	-0.335000	0.07917	-1.085000	0.06377	-0.814000	0.03034	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2803:0.2169:0.5028	3.424	0.06974	759	0.50631	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1631.98	37	chr16	2530684	.	T	G	1631.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.243;DP=852;ExcessHet=0.0000;FS=3.167;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=2.13;SOR=0.459	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1241	20	0	1	0
chr16	2762530	2762530	C	T	exonic	SRRM2	.	nonsynonymous SNV	SRRM2:NM_016333:exon11:c.C2002T:p.R668C,	.	.	.	.	.	.	.	.	.	.	.	2776544	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.765	P	0.000	D	1.000	N	0.805	L	1.69	T	-0.949	T	0.071	T	0.638	0.143	4.770	-2.22	-0.688	-0.169	17.758	0.200	0.0133307189736	.	0.000199681	8.275e-06	0	0	0	0	0	0	6.073e-05	1.29e-05	2	154602	rs545913127	2.121e-05	2.189e-05	2.178e-05	2.063e-05	0.0003	1.52e-05	1.324e-05	6.092e-05	2.521e-05	5.974e-05	2.236e-05	0	0	0	0.0003	2.068e-05	3.312e-05	1.159e-05	1.317e-05	1.314e-05	1.289e-05	1.347e-05	2.945e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.945e-05	0	0	.	.	.	0.003	0.83351	D	0.999	0.77913	D	0.765	0.56630	P	0.000022	0.55875	D	0.000000	1	0.08975	N	0.695	0.17993	N	1.69	0.32722	T	-3.35	0.66436	D	0.465	0.50146	-0.9490	0.41143	T	0.071	0.29066	T	10	0.13968742	0.26558	T	0.013331	0.32649	T	0.200	0.48430	0.331	0.31681	0.385249989106	0.38142	0.20187262382521715	0.20104	.	.	0.81319475174	0.83983	D	0.557745	0.85141	D	-0.200765	0.20694	T	-0.344014	0.39890	T	0.320484429597855	0.25842	T	0.872513	0.61998	D	0.68880594	0.77447	0.25394285	0.51050	0.68880594	0.77448	0.25394285	0.51049	-10.53	0.77019	D	.	.	0.490	0.64108	A	.;.;.	.;.;.	2.305199	0.29499	18.14	0.95453364933313212	0.26976	0.15484	0.18934	N	AEFDBHCI	0.176845	0.30407	N	-0.473796639309791	0.22942	1.228533	-0.666464130870375	0.17801	0.9481896	0.999970020219633	0.50053	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.91	-2.22	0.06560	1.098000	0.30612	-0.150000	0.11428	0.599000	0.40250	0.118000	0.23139	0.000000	0.08366	0.300000	0.24500	0.7716:0.2284:0.0:0.0	17.758	0.88363	789	0.46346	Spt5 C-terminal domain;Spt5 C-terminal domain;Spt5 C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3118.98	33	chr16	2762530	.	C	T	3118.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.74;DP=1202;ExcessHet=0.0000;FS=0.469;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=-1.370e-01;SOR=0.733	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr16	2762561	2762561	G	T	exonic	SRRM2	.	nonsynonymous SNV	SRRM2:NM_016333:exon11:c.G2033T:p.S678I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.61	P	0.193	B	0.394	N	1.000	N	0.345	N	1.8	T	-1.054	T	0.040	T	0.206	0.125	4.672	4.1	2.187	4.494	14.638	0.072	0.00495417486105	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482416063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.42261	T	0.61	0.39628	P	0.193	0.36509	B	0.394407	0.13210	N	0.657383	0.999649	0.20796	N	0.345	0.11182	N	1.8	0.25996	T	-2.18	0.49187	N	0.26	0.29429	-1.0545	0.13172	T	0.040	0.17362	T	10	0.21033525	0.37425	T	0.004954	0.12473	T	0.072	0.21020	0.352	0.35084	0.328486982098	0.32448	0.17139119644757989	0.17059	.	.	0.665354847908	0.62175	T	0.196538	0.55295	T	-0.209903	0.19392	T	-0.539288	0.18365	T	0.267624050378799	0.23645	T	0.729427	0.34485	T	0.45711476	0.64491	0.2733607	0.53255	0.45711476	0.64492	0.2733607	0.53254	-10.108	0.74556	D	.	.	0.366	0.57616	A	.;.;.	.;.;.	2.984733	0.39824	21.0	0.70345524999784848	0.09265	0.56934	0.30245	D	AEFDGBHCI	0.532023	0.55206	D	-0.261239440043942	0.30657	1.711452	-0.262230503151596	0.29354	1.643837	0.999999999995363	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.1	4.1	0.47196	3.684000	0.54403	6.714000	0.56410	0.676000	0.76740	0.444000	0.26519	0.998000	0.33993	0.972000	0.54974	0.0:0.0:1.0:0.0	14.638	0.68304	789	0.46346	Spt5 C-terminal domain;Spt5 C-terminal domain;Spt5 C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2645.98	232	chr16	2762561	.	G	T	2645.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.47;DP=1296;ExcessHet=0.0000;FS=1.039;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.41;ReadPosRankSum=0.417;SOR=0.593	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr16	2764574	2764574	C	A	exonic	SRRM2	.	nonsynonymous SNV	SRRM2:NM_016333:exon11:c.C4046A:p.S1349Y,	.	.	431	1089	2	0	0	2	0.000917431	.	.	2810954	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.047	B	0.02	B	0.027	N	1.000	N	0	N	1.84	T	-1.039	T	0.034	T	0.207	1.047	9.278	5.16	1.597	1.850	9.662	0.030	0.0076148160762	.	.	3.309e-05	0	0	0	0	4.498e-05	0	6.057e-05	2.59e-05	4	154602	rs145200443	4.104e-05	4.104e-05	4.492e-05	3.713e-05	0.0017	3.244e-05	2.919e-05	0.0009	0.0007	2.987e-05	0	0	0	0	0.0017	3.237e-05	0.0001	4.637e-05	5.909e-05	5.906e-05	6.424e-05	5.371e-05	0.0002	3.075e-05	2.209e-05	2.846e-05	1.858e-05	2.407e-05	0	0	0	0	0	0.0034	7.349e-05	0.0005	0.0002	.	.	.	0.033	0.53072	D	0.047	0.21998	B	0.02	0.19048	B	0.027300	0.25780	N	0.379545	0.999692	0.20667	N	0	0.06538	N	1.84	0.24656	T	-0.42	0.14193	N	0.239	0.26957	-1.0392	0.17556	T	0.034	0.14464	T	10	0.08720982	0.14899	T	0.007615	0.20192	T	0.030	0.07022	0.193	0.10437	0.303781844768	0.29979	0.4407284899264745	0.43989	.	.	0.300399512053	0.10460	T	0.153872	0.49491	T	-0.312509	0.07529	T	-0.556223	0.16733	T	0.0515941979502398	0.05777	T	0.79742	0.44137	T	0.11349198	0.26804	0.16263585	0.37768	0.11349198	0.26804	0.16263585	0.37767	-7.677	0.58848	D	.	.	0.112	0.21950	B	.	.	3.317234	0.45604	22.2	0.88094169919647658	0.17712	0.96228	0.68125	D	AEFGBCI	0.328765	0.42932	N	-0.180611113693565	0.33942	1.931537	0.0455140388878422	0.41854	2.521619	0.999999275551403	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.11	5.16	0.70563	1.473000	0.34995	2.760000	0.34598	0.599000	0.40250	0.995000	0.38783	0.999000	0.35428	0.990000	0.65344	0.0:0.8431:0.0:0.1569	9.662	0.39123	784	0.47045	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1508.98	87	chr16	2764574	.	C	A	1508.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.125e+00;DP=1790;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.26;ReadPosRankSum=0.392;SOR=0.642	GT:AD:DP:GQ:PL	0/0:60,0:60:99:0,120,1800	20	0	1	0
chr16	2766730	2766730	T	G	exonic	SRRM2	.	nonsynonymous SNV	SRRM2:NM_016333:exon11:c.T6202G:p.L2068V,	.	.	429	1092	1	0	0	1	0.000457666	.	.	2363335	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.49	T	0.993	D	0.987	D	0.001	D	0.964	N	0.55	N	1.7	T	-1.054	T	0.066	T	0.656	0.811	8.260	1.87	0.383	-0.197	7.051	0.183	0.00520973355703	0.0002	.	0.0001	0	8.661e-05	0	0	0.0002	0	0	0.0001164	18	154602	rs147957204	0.0002	0.0002	0.0002	0.0001	0.0024	0.0001	0.0001	0.0015	0.0012	2.987e-05	4.472e-05	0	0	5.617e-05	0.0024	0.0002	0.0003	0	0.0001	0.0001	0.0001	0.0001	0.0002	8.163e-05	6.72e-05	0.0001	9.897e-05	2.405e-05	0	0.0001	0	0.0002	0	0	0.0002	0.0005	0	.	.	.	0.181	0.29346	T	0.993	0.65571	D	0.987	0.77487	D	0.000611	0.42945	D	0.000000	0.964362	0.25985	N	0.345	0.11182	N	1.7	0.26885	T	-0.57	0.17210	N	0.514	0.54496	-1.0536	0.13413	T	0.066	0.27260	T	10	0.2286863	0.39779	T	0.00521	0.13279	T	0.183	0.45592	.	.	0.353336612579	0.34937	0.43236199433553285	0.43153	.	.	0.609583199024	0.54256	T	0.162105	0.50663	T	-0.273712	0.11346	T	-0.326397	0.41867	T	0.0528638457814048	0.05996	T	0.625537	0.24174	T	0.23351838	0.46157	0.14845252	0.35092	0.23351838	0.46157	0.14845252	0.35091	-3.95	0.23053	T	.	.	0.105	0.19194	B	.	.	1.578062	0.20196	14.63	0.84761640368567437	0.15482	0.49247	0.28390	N	AEFDGBHCI	.	.	.	-0.11766872002089	0.36622	2.119422	-0.165519993422771	0.32814	1.870723	0.999999716727974	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.741806	0.99463	0	.	.	5.47	1.87	0.24559	-0.194000	0.09559	0.116000	0.14850	0.665000	0.62972	0.017000	0.19353	0.013000	0.20296	0.983000	0.59808	0.0:0.3472:0.0:0.6528	7.051	0.24250	779	0.47767	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3723.98	63	chr16	2766730	.	T	G	3723.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.360e+00;DP=1728;ExcessHet=0.0000;FS=2.445;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=1.94;SOR=0.571	GT:AD:DP:GQ:PL	0/1:152,154:306:99:3738,0,3905	20	0	1	0
chr16	2769172	2769174	TCC	-	exonic	SRRM2	.	nonframeshift deletion	SRRM2:NM_016333:exon12:c.7909_7911del:p.S2648del,	.	.	390	1131	1	0	0	1	0.000441891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061	.	0.0004	0.0004	0.0008	0.0029	0	0.0001	0	0.0004	0.0001153	3	26028	rs371267963	0.0003	0.0003	0.0003	0.0003	0.0060	0.0003	0.0002	0.0054	0.0052	0.0004	0.0008	3.853e-05	0.0060	0.0001	0	6.85e-05	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0015	0.0002	0.0002	0.0008	0.0006	0.0003	0	0.0007	0.0003	0.0015	0	0	0	0.0009	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1174.94	35	chr16	2769171	.	TTCC	T	1174.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=774;ExcessHet=0.0000;FS=0.907;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.03;ReadPosRankSum=-1.678e+00;SOR=0.563	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1236	20	0	1	0
chr16	2770683	2770683	C	T	exonic	SRRM2	.	nonsynonymous SNV	SRRM2:NM_016333:exon14:c.C8215T:p.P2739S,	.	.	430	996	89	7	0	103	0.0491647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	0.721	D	0.55	N	0.33	T	-0.449	T	0.192	T	0.625	1.864	12.19	5.65	2.679	2.112	15.222	0.190	.	0.0023	0.00958466	0.0188	0.0018	0.0151	0	0	0.0053	0.025	0.0420	0.0049482	765	154602	rs138495768	0.0047	0.0047	0.0036	0.0058	0.0438	0.0046	0.0046	0.0394	0.0377	0.0007	0.0026	0.0042	2.763e-05	0.0001	0.0438	0.0025	0.0065	0.0388	0.0035	0.0035	0.0029	0.0041	0.0344	0.0032	0.0031	0.0301	0.0285	0.0006	0	0.0060	0.0026	0.0002	0	0.0306	0.0031	0.0066	0.0344	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000011	0.62929	D	0.000000	0.720634	0.33614	D	0.55	0.14455	N	0.33	0.58323	T	-1.53	0.37178	N	0.386	0.42737	-0.4492	0.70427	T	0.192	0.54389	T	10	0.007466644	0.00170	T	.	.	.	0.190	0.46781	.	.	0.595214673487	0.59199	0.12494821746765934	0.12420	.	.	0.456650614738	0.32852	T	0.215958	0.57798	T	-0.330918	0.06043	T	-0.219549	0.52781	T	0.0301538723058847	0.02013	T	0.748625	0.36937	T	0.36156985	0.57956	0.40821308	0.65145	0.36156985	0.57956	0.40821308	0.65145	-4.674	0.33088	T	.	.	0.131	0.28174	B	.	.	3.829761	0.55346	23.6	0.947188900019729	0.25389	0.82683	0.41877	D	AEFDGBHCI	0.632421	0.61304	D	0.504954797921864	0.67383	5.074224	0.538789430895942	0.70620	5.532223	0.999999999999159	0.74766	0.675202	0.55065	0	0.697927	0.68747	0	0.67197	0.60751	0	0.711	0.71501	0	.	.	5.65	5.65	0.86881	2.149000	0.41869	7.631000	0.62734	0.599000	0.40250	0.908000	0.31627	1.000000	0.68203	0.887000	0.42601	0.0:1.0:0.0:0.0	15.222	0.73011	769	0.49307	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1288.98	34	chr16	2770683	.	C	T	1288.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.250e-01;DP=793;ExcessHet=0.0000;FS=1.635;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.29;ReadPosRankSum=-9.960e-01;SOR=0.902	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,993	20	0	1	0
chr16	2798500	2798500	G	0	exonic	PRSS41	.	.	.	.	.	406	1042	59	5	10	79	0.0320483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	451.16	15	chr16	2798500	.	G	T,*	451.16	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=1.05;DP=364;ExcessHet=0.0000;FS=1.494;InbreedingCoeff=0.6325;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=0.218;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:20,0,0:20:60:.:.:0,60,648,60,648,648	19	0	1	0
chr16	2799467	2799467	A	G	exonic	PRSS41	.	nonsynonymous SNV	PRSS41:NM_001354586:exon3:c.A478G:p.N160D,	.	.	425	1088	9	0	0	9	0.00411899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020	0.000798722	0.0026	0.0004	0	0	0	0.0050	0.0041	0.0013	0.0006274	97	154602	rs192768989	0.0011	0.0010	0.0011	0.0011	0.0049	0.0010	0.0010	0.0035	0.0030	0.0001	0.0009	0.0188	0	0.0001	0.0049	0.0007	0.0021	0.0013	0.0011	0.0011	0.0011	0.0012	0.0016	0.0010	0.0009	0.0011	0.0010	0.0002	0	0.0016	0.0182	0	0.0003	0	0.0010	0.0009	0.0010	.	.	.	.	.	.	0.943	0.53072	P	0.739	0.55653	P	.	.	.	.	.	.	.	0.885	0.21608	L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004555404	0.00094	T	.	.	.	.	.	.	.	.	.	0.8861531642545919	0.88584	.	.	0.307435840368	0.11519	T	0.36385	0.72953	T	.	.	.	.	.	.	.	.	.	0.531447	0.17660	T	0.06646948	0.14306	0.1342713	0.32178	0.06646948	0.14306	0.1342713	0.32177	-7.526	0.57793	D	.	.	0.115	0.23005	B	.	.	1.230747	0.16252	12.42	0.68083136029113001	0.08550	0.71889	0.35210	D	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999505634468401	0.40062	0.077785	0.01820	0	0.063388	0.01293	0	0.074216	0.02223	0	0.088932	0.02473	0	0.554365	0.40152	4.53	4.53	0.55009	2.265000	0.42968	-2.085000	0.04236	0.756000	0.94297	0.256000	0.24909	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	12.096	0.53057	513	0.74941	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1989.98	36	chr16	2799467	.	A	G	1989.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.550e-01;DP=931;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.31;ReadPosRankSum=0.466;SOR=0.726	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	20	0	1	0
chr16	2821102	2821102	C	A	exonic	PRSS21	.	stopgain	PRSS21:NM_001270452:exon5:c.C666A:p.C222X,	.	.	415	1067	38	2	0	42	0.0193015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.979	D	0.762	P	.	.	1.000	N	3.38	M	-1.71	D	0.526	D	0.641	D	0.489	2.825	15.41	4.35	2.262	4.870	14.485	0.591	.	0.0018	0.00838658	0.0068	0.0004	0.0010	0	0.0234	0.0045	0.0055	0.0206	0.0058731	908	154602	rs139303479	0.0036	0.0037	0.0031	0.0042	0.0211	0.0036	0.0035	0.0203	0.0200	0.0002	0.0011	0.0007	2.519e-05	0.0209	0.0109	0.0018	0.0037	0.0211	0.0041	0.0041	0.0025	0.0057	0.0222	0.0038	0.0037	0.0188	0.0175	0.0003	0	0.0021	0.0009	0	0.0306	0.0068	0.0020	0.0033	0.0222	0.008	0.58626	D	0.006	0.70582	D	0.979	0.59044	D	0.762	0.56524	P	.	.	.	.	1	0.81001	D	3.345	0.91022	M	-1.71	0.83157	D	-3.12	0.63782	D	0.319	0.35938	0.526	0.90905	D	0.641	0.87438	D	9	0.023073196	0.00593	T	.	.	.	0.591	0.83691	.	.	0.905404214419	0.90446	0.6373043469950349	0.63664	0.105408080071	0.11918	0.337047219276	0.15996	T	0.721797	0.92143	D	-0.224013	0.17449	T	-0.0789608	0.64981	T	0.04023178286282	0.03733	T	.	.	.	0.5699691	0.71059	0.61235946	0.77445	0.5699691	0.71060	0.61235946	0.77446	-15.375	0.96670	D	.	.	0.962	0.88285	P	.	.	3.859172	0.55956	23.7	0.98635057207627197	0.43974	0.94296	0.60715	D	AEFDGBHCI	0.869293	0.78976	D	0.474615841107823	0.65613	4.844492	0.322565907156833	0.56869	3.850931	0.999999983955616	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.35	4.35	0.51454	4.884000	0.62827	3.581000	0.39157	0.587000	0.30956	0.997000	0.40164	0.498000	0.25189	0.021000	0.11733	0.0:1.0:0.0:0.0	14.485	0.67191	518	0.74548	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	rs139303479	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	5302.66	33	chr16	2821102	.	C	A	5302.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-9.160e-01;DP=1046;ExcessHet=0.0000;FS=1.670;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=20.39;ReadPosRankSum=-6.420e-01;SOR=0.568	GT:AD:DP:GQ:PL	0/0:90,0:90:99:0,120,1800	19	1	1	0
chr16	2821451	2821451	G	A	exonic	PRSS21	.	nonsynonymous SNV	PRSS21:NM_006799:exon6:c.G791A:p.R264Q	.	.	420	1094	8	0	0	8	0.00364299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.989	D	0.689	P	.	.	1.000	N	0.745	N	-2.4	D	-0.789	T	0.063	T	0.369	2.414	14.03	0.488	0.318	-1.430	5.524	0.369	.	0.0011	0.0209665	0.0178	0.0012	0.1286	0.0626	0	0.0008	0.0122	0.0034	0.0161706	2500	154602	rs2072273	0.0066	0.0066	0.0071	0.0060	0.1101	0.0065	0.0064	0.1076	0.1065	0.0010	0.1101	0.0043	0.0880	1.872e-05	0.0016	0.0004	0.0055	0.0034	0.0082	0.0082	0.0077	0.0087	0.0559	0.0078	0.0077	0.0506	0.0485	0.0010	0	0.0518	0.0069	0.0559	9.416e-05	0	0.0008	0.0104	0.0058	0.292	0.20683	T	0.219	0.25987	T	0.971	0.62824	D	0.481	0.53736	P	.	.	.	.	1	0.08975	N	0.895	0.22405	L	-2.4	0.88455	D	-2.5	0.54382	D	0.132	0.12770	-0.7889	0.55794	T	0.063	0.26314	T	9	0.0019930005	0.00028	T	.	.	.	0.369	0.68844	.	.	.	.	0.34292438603151093	0.34205	0.0864368177817	0.09759	0.244944602251	0.03254	T	0.173279	0.52209	T	-0.408185	0.02044	T	-0.262389	0.48586	T	0.0361902739389582	0.03015	T	.	.	.	0.22015241	0.44564	0.18178254	0.41063	0.22015241	0.44563	0.18178254	0.41062	-6.876	0.66053	T	.	.	0.225	0.45653	B	.;.	.;.	2.428422	0.31237	18.68	0.99824493017901905	0.90677	0.07334	0.13355	N	AEFDGBHCI	0.121327	0.23593	N	-0.570330665033572	0.19850	1.042154	-0.707363295763004	0.16778	0.8891234	0.990218191330153	0.32077	0.634777	0.41761	0	0.643519	0.57511	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.96	0.488	0.16056	-3.522000	0.00494	-1.791000	0.04719	0.663000	0.56723	0.000000	0.06391	0.000000	0.08366	0.971000	0.54645	0.0983:0.0:0.3912:0.5105	5.524	0.16237	533	0.73433	.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2088.98	34	chr16	2821451	.	G	A	2088.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=1018;ExcessHet=0.0000;FS=2.775;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=0.209;SOR=0.511	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	20	0	1	0
chr16	2940061	2940061	A	T	exonic	FLYWCH1	.	nonsynonymous SNV	FLYWCH1:NM_001308068:exon9:c.A2080T:p.T694S	.	.	437	1059	26	0	0	26	0.0121269	.	.	726563	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.76	T	0.466	P	0.044	B	.	.	1.000	N	0.55	N	.	.	-1.016	T	0.028	T	0.126	-0.362	2.295	-0.71	-0.270	0.143	3.393	0.028	.	0.0012	0.00838658	0.0093	0.0004	0.0025	0.0001	0	0.0028	0.0170	0.0508	0.0061513	951	154602	rs200567618	0.0039	0.0039	0.0026	0.0052	0.0410	0.0038	0.0038	0.0398	0.0394	0.0003	0.0013	0.0185	0.0001	1.876e-05	0.0151	0.0010	0.0055	0.0410	0.0028	0.0028	0.0021	0.0034	0.0404	0.0026	0.0025	0.0358	0.0340	0.0002	0	0.0016	0.0239	0.0002	0	0.0102	0.0014	0.0057	0.0404	0.084	0.32929	T	0.319	0.19246	T	0.105	0.36465	B	0.011	0.24394	B	.	.	.	.	1	0.08975	N	1.525	0.38595	L	.	.	.	-0.92	0.24676	N	0.186	0.21188	-1.0157	0.25110	T	0.028	0.11838	T	8	0.0030860603	0.00051	T	.	.	.	0.028	0.06331	.	.	0.0138822411134	0.00435	0.06949796289218495	0.06887	.	.	0.444318264723	0.31167	T	0.01465	0.12435	T	-0.594237	0.00158	T	-0.59637	0.13119	T	0.00309757687817122	0.00032	T	0.451355	0.12777	T	0.032496184	0.03285	0.030530464	0.01519	0.032496184	0.03284	0.030530464	0.01519	-3.083	0.11193	T	.	.	0.118	0.24226	B	.;.	.;.	-0.105926	0.03606	0.708	0.63187656537207515	0.07157	0.01263	0.04429	N	AEFBHCI	0.065080	0.12672	N	-1.28060460151924	0.03909	0.1754922	-1.39347297607137	0.03321	0.1546841	9.79584783668024E-6	0.01202	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	0.785	-0.71	0.10668	-0.189000	0.09625	1.438000	0.26503	-0.496000	0.05032	0.002000	0.15269	0.588000	0.25656	0.002000	0.04165	0.563:0.437:0.0:0.0	3.393	0.06870	867	0.32089	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	754.98	33	chr16	2940061	.	A	T	754.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.700e-02;DP=760;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=0.803;SOR=0.702	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr16	2967346	2967354	GAGGCCCCC	-	exonic	KREMEN2	.	nonframeshift deletion	KREMEN2:NM_001253725:exon7:c.883_891del:p.A296_E298del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	155.94	30	chr16	2967345	.	AGAGGCCCCC	A	155.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.712;DP=461;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.75;ReadPosRankSum=-2.450e-01;SOR=0.301	GT:AD:DP:GQ:PL	0/0:17,0:17:51:0,51,526	20	0	1	0
chr16	2971923	2971923	C	T	exonic	PAQR4	.	nonsynonymous SNV	PAQR4:NM_001284512:exon2:c.C575T:p.A192V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.892	P	0.365	B	0.011	N	1.000	D	0.44	N	1.52	T	-1.028	T	0.046	T	0.233	1.940	12.44	4.8	2.229	3.129	11.303	0.058	0.0101980468966	.	.	0.0001	0	0	0	0	0	0	0.0008	7.12e-05	11	154602	rs763074735	3.392e-05	3.694e-05	2.202e-05	4.595e-05	0.0005	2.596e-05	2.339e-05	0.0004	0.0004	0	0	0	0	0	0.0002	0	5.006e-05	0.0005	1.969e-05	1.968e-05	0	4.028e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	0	0	0.0006	0.024	0.47745	D	0.222	0.26631	T	0.294	0.32391	B	0.084	0.32546	B	0.010724	0.29807	N	0.351373	0.527782	0.81001	D	0.695	0.17993	N	1.52	0.31470	T	-0.94	0.25118	N	0.208	0.45331	-1.0281	0.21070	T	0.046	0.19800	T	10	0.05484107	0.05902	T	0.010198	0.26456	T	0.058	0.16647	0.472	0.54699	0.201204373187	0.19734	0.4894772082907246	0.48867	0.173795782783	0.19568	0.455185115337	0.32652	T	0.037783	0.24604	T	-0.429492	0.01493	T	-0.496131	0.22748	T	0.075995800779175	0.09467	T	0.915608	0.69895	D	0.09857346	0.23251	0.09445038	0.22356	0.09857346	0.23251	0.09445038	0.22355	-5.232	0.42434	T	.	.	0.158	0.34927	B	.;.;.;.;.	.;.;.;.;.	3.443121	0.47909	22.5	0.99582623571504481	0.73099	0.98600	0.84554	D	AEFDGBHCI	0.490041	0.52769	N	-0.0492908979528663	0.39634	2.340457	0.0814641516395854	0.43616	2.659776	0.999999997165679	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.606735	0.37207	0	0.636168	0.56350	0	.	.	4.8	4.8	0.61157	1.673000	0.37150	5.927000	0.51257	0.599000	0.40250	0.976000	0.34826	1.000000	0.68203	0.977000	0.56843	0.0:0.8155:0.1845:0.0	11.303	0.48552	862	0.33134	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	822.98	36	chr16	2971923	.	C	T	822.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.380e-01;DP=707;ExcessHet=0.0000;FS=1.335;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.14;ReadPosRankSum=1.76;SOR=0.417	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1261	20	0	1	0
chr16	3050484	3050484	A	G	exonic	MMP25	.	nonsynonymous SNV	MMP25:NM_022468:exon4:c.A599G:p.E200G,	.	.	427	1060	35	0	0	35	0.0162413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.025	B	0.093	B	0.005	N	0.900	D	1.39	L	1.95	T	-1.064	T	0.034	T	0.639	2.012	12.68	4.97	1.865	2.404	8.126	0.112	0.0157342935427	0.0026	0.00299521	0.0040	0.0004	0.0030	0	0.0059	0.0050	0.0093	0.0042	0.0037063	573	154602	rs61753772	0.0030	0.0030	0.0028	0.0031	0.0374	0.0029	0.0029	0.0333	0.0317	0.0022	0.0036	0.0188	0	0.0044	0.0374	0.0022	0.0055	0.0041	0.0033	0.0033	0.0030	0.0035	0.0060	0.0030	0.0029	0.0050	0.0046	0.0007	0	0.0060	0.0187	0	0.0038	0.0544	0.0032	0.0085	0.0041	0.102	0.30235	T	0.115	0.36630	T	0.025	0.19245	B	0.093	0.30104	B	0.005235	0.32979	N	0.135019	0.900016	0.36149	D	1.445	0.36358	L	1.95	0.22474	T	-3.71	0.70674	D	0.409	0.45237	-1.0639	0.10807	T	0.034	0.14769	T	10	0.007707119	0.00175	T	0.015734	0.36624	T	0.112	0.31546	.	.	0.580833741332	0.57755	0.4782806962624008	0.47748	0.664319092626	0.59071	0.421868532896	0.28093	T	0.200117	0.55760	T	-0.382806	0.02991	T	-0.322384	0.42312	T	0.0323805169890309	0.02369	T	0.805819	0.47523	T	0.1698819	0.37530	0.15520324	0.36391	0.1698819	0.37530	0.15520324	0.36391	-8.861	0.66798	D	0.23655069084413585	0.32032	0.282	0.51454	B	.;.	.;.	4.114602	0.61453	24.3	0.99620379997298081	0.75353	0.75012	0.36710	D	AEFBCI	0.238057	0.36024	N	-0.0692736843006788	0.38746	2.27407	0.0789221993397978	0.43489	2.649685	0.284738229942804	0.19024	0.634777	0.41761	0	0.514364	0.08380	0	0.643519	0.47002	0	0.616125	0.45549	0	.	.	4.97	4.97	0.65419	2.310000	0.43368	.	.	0.751000	0.87719	0.841000	0.30301	1.000000	0.68203	0.986000	0.61781	0.8201:0.0:0.0:0.1799	8.126	0.30157	786	0.46839	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase;Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1695.11	34	chr16	3050484	.	A	G	1695.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.035e+00;DP=880;ExcessHet=0.1072;FS=5.942;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.114;SOR=1.133	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	19	0	2	0
chr16	3067435	3067435	C	G	exonic	IL32	.	nonsynonymous SNV	IL32:NM_001308078:exon3:c.C74G:p.S25C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	B	0.047	B	.	.	1.000	N	.	.	0.54	T	-1.041	T	0.080	T	0.445	1.159	9.718	-3.28	-2.069	-2.144	5.343	0.058	0.00268015823569	0.0005	0.000199681	0.0004	9.654e-05	0	0	0.0002	0.0007	0	0	0.0003752	58	154602	rs201900317	0.0007	0.0007	0.0007	0.0007	0.0009	0.0007	0.0006	0.0008	0.0008	0.0001	0.0002	0	2.527e-05	5.637e-05	0.0002	0.0009	0.0004	1.169e-05	0.0005	0.0005	0.0005	0.0005	0.0010	0.0004	0.0004	0.0008	0.0007	0.0002	0	0.0001	0	0	9.42e-05	0	0.0010	0	0	0.0	0.91255	D	0.0	0.92824	D	0.033	0.20350	B	0.047	0.24832	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.54	0.54911	T	-0.06	0.08033	N	0.095	0.09349	-1.0409	0.17041	T	0.080	0.31765	T	7	0.014362544	0.00302	T	0.00268	0.05492	T	0.058	0.16647	.	.	0.281381271821	0.27740	0.004942851170949683	0.00466	.	.	.	.	.	0.004895	0.09781	T	-0.386214	0.02845	T	-0.405534	0.32742	T	0.0106838204608617	0.00150	T	0.40156	0.10241	T	0.054701168	0.10529	0.059387535	0.11135	0.054701168	0.10529	0.059387535	0.11135	-4.216	0.26983	T	.	.	0.202	0.47250	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.626446	0.01501	0.095	0.93963226843608394	0.24033	0.00153	0.00922	N	AEFBI	.	.	.	-1.64127298067194	0.01072	0.0465379	-1.80232362689546	0.00752	0.03351236	0.999993568902682	0.74766	0.733237	0.96898	0	0.600757	0.49542	0	0.602189	0.34648	0	0.735409	0.98432	0	.	.	1.64	-3.28	0.04721	-2.287000	0.01232	.	.	-0.967000	0.01957	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2341:0.3414:0.4245:0.0	5.343	0.15301	749	0.51929	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	621.98	36	chr16	3067435	.	C	G	621.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.930e+00;DP=813;ExcessHet=0.0000;FS=0.971;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.20;ReadPosRankSum=0.181;SOR=0.656	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1100	20	0	1	0
chr16	3092545	3092545	C	T	exonic	ZSCAN10	.	nonsynonymous SNV	ZSCAN10:NM_001282416:exon2:c.G250A:p.A84T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.0	B	0.0	B	.	.	1.000	D	.	.	.	.	-1.060	T	0.053	T	.	0.481	6.612	-9.65	-2.247	.	3.149	0.030	0.0123704668036	.	.	9.549e-05	0	0	0	0	0.0002	0	0	1.29e-05	2	154602	rs766128760	1.758e-05	2.394e-05	1.44e-05	2.087e-05	5.471e-05	1.189e-05	1e-05	1.746e-05	1.039e-05	3.205e-05	0	0	5.471e-05	0	0	1.501e-05	1.762e-05	5.337e-05	6.572e-06	6.566e-06	0	1.345e-05	6.542e-05	0	0	.	.	0	0	6.542e-05	0	0	0	0	0	0	0	0.855	0.02705	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.12	0.08106	T	0.1	0.05810	N	0.033	0.00882	-1.0601	0.11731	T	0.053	0.22539	T	7	0.024837166	0.00698	T	0.01237	0.30882	T	0.030	0.07022	.	.	0.0297737177859	0.01360	.	.	.	.	.	.	.	.	.	.	-0.253211	0.13708	T	-0.601496	0.12685	T	0.0212823264501554	0.00830	T	0.205479	0.02425	T	.	.	.	.	.	.	.	.	-5.563	0.42453	T	.	.	0.104	0.18787	B	.	.	-0.368442	0.02333	0.250	0.36813449652224989	0.02389	0.01643	0.05285	N	AEFDBHCI	0.025528	0.01761	N	-1.80760559202086	0.00527	0.02268006	-1.93318598860049	0.00420	0.01858953	0.999998318621478	0.74766	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	4.82	-9.65	0.00450	-6.753000	0.00068	.	.	-1.763000	0.00674	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.117:0.4028:0.2393:0.2409	3.149	0.06094	774	0.48577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2933.08	35	chr16	3092545	.	C	T	2933.08	.	AC=2;AF=0.048;AN=42;DP=911;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.55;SOR=0.778	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,107,1238	20	1	0	0
chr16	3092567	3092567	C	G	exonic	ZSCAN10	.	nonsynonymous SNV	ZSCAN10:NM_032805:exon2:c.G371C:p.R124P,	.	.	429	1085	8	0	0	8	0.00367309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.105	B	0.216	B	0.244	N	1.000	N	2.24	M	3.55	T	-0.966	T	0.018	T	0.458	3.177	16.63	-2.07	-0.246	-1.160	2.085	0.091	0.0262382447281	.	.	0.0020	0.0012	0.0012	0	0	0.0021	0	0.0037	0.0003622	56	154602	rs755979872	0.0005	0.0005	0.0005	0.0005	0.0028	0.0005	0.0005	0.0018	0.0015	6.199e-05	0.0003	0.0048	0	6.69e-05	0.0028	0.0004	0.0014	0.0010	0.0004	0.0004	0.0003	0.0004	0.0014	0.0003	0.0003	0.0007	0.0005	4.811e-05	0	0.0001	0.0066	0	0	0	0.0004	0.0005	0.0014	0.004	0.65419	D	0.032	0.53426	D	0.105	0.25993	B	0.216	0.37572	B	0.244380	0.15643	N	0.601756	0.99999	0.20745	N	.	.	.	3.55	0.04746	T	-2.53	0.54864	D	0.295	0.55193	-0.9656	0.38092	T	0.018	0.07659	T	10	0.0067323744	0.00153	T	0.026238	0.49161	D	0.091	0.26358	.	.	0.290590437066	0.28656	0.1560973747643535	0.15530	0.0526416560839	0.05800	0.371197462082	0.21003	T	0.026202	0.49903	T	-0.474542	0.00797	T	-0.520543	0.20239	T	0.0296954570758633	0.01942	T	0.272373	0.04609	T	0.36581966	0.58275	0.25875187	0.51612	0.36581966	0.58275	0.25875187	0.51611	-6.075	0.46902	T	.	.	0.318	0.54346	B	.;.;.	.;.;.	1.282829	0.16827	12.79	0.94148216214798297	0.24344	0.07185	0.13210	N	AEFDBHCI	0.075797	0.15232	N	-1.10583741460414	0.06539	0.3012648	-1.22257921167838	0.05548	0.2646872	0.917945285121995	0.26557	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	5.4	-2.07	0.06873	-0.533000	0.06245	.	.	-0.898000	0.02344	0.001000	0.13787	0.000000	0.08366	0.008000	0.08271	0.1889:0.4287:0.2325:0.1499	2.085	0.03422	774	0.48577	SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	799.98	35	chr16	3092567	.	C	G	799.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.86;DP=858;ExcessHet=0.0000;FS=2.092;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.31;ReadPosRankSum=0.428;SOR=1.071	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,107,1238	20	0	1	0
chr16	3119903	3119903	A	G	exonic	ZNF205	.	nonsynonymous SNV	ZNF205:NM_001042428:exon7:c.A1243G:p.T415A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.99	D	0.985	D	0.000	D	0.722	D	0.96	L	1.73	T	-0.841	T	0.105	T	0.534	3.092	16.33	5.54	2.105	0.766	13.633	0.149	0.0127757968644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.99	0.63424	D	0.985	0.76457	D	0.000169	0.48594	D	0.000000	0.721912	0.33627	D	1.28	0.32218	L	1.73	0.26445	T	-4.78	0.80510	D	0.39	0.50778	-0.8409	0.52587	T	0.105	0.38415	T	10	0.41404718	0.56420	T	0.012776	0.31649	T	0.149	0.39377	0.346	0.34112	0.594283004778	0.59106	0.3859092241501089	0.38505	1.75051939217	0.90991	0.73111397028	0.71669	T	0.345925	0.71425	T	-0.0714003	0.41103	T	-0.340338	0.40306	T	0.982912659645081	0.74780	D	0.686231	0.29475	T	0.7199688	0.79159	0.65991277	0.80076	0.7199688	0.79161	0.65991277	0.80077	-8.829	0.66590	D	.	.	0.445	0.62888	A	.;.;.	.;.;.	4.067042	0.60402	24.2	0.99477446465896247	0.66687	0.86983	0.46390	D	AEFDBCI	0.416070	0.48467	N	0.27845909219421	0.55057	3.670199	0.255723748996827	0.52974	3.468964	0.996707750846969	0.34942	0.706548	0.73137	0	0.694456	0.67091	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	1.462000	0.34876	.	.	0.751000	0.87719	0.748000	0.29111	1.000000	0.68203	0.969000	0.54022	1.0:0.0:0.0:0.0	13.633	0.61677	825	0.40060	Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1619.98	38	chr16	3119903	.	A	G	1619.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.750e-01;DP=910;ExcessHet=0.0000;FS=8.424;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.52;ReadPosRankSum=-1.471e+00;SOR=0.722	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,120,1800	20	0	1	0
chr16	3141330	3141330	G	A	exonic	ZNF213	.	nonsynonymous SNV	ZNF213:NM_001134655:exon6:c.G1363A:p.A455T	.	.	409	1101	12	0	0	12	0.00542005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.982	D	0.715	P	0.002	N	0.981	D	0.69	N	3.48	T	-1.053	T	0.025	T	0.467	3.241	16.87	5.09	2.365	0.019	15.987	0.117	0.00860725341356	0.0013	0.000599042	0.0015	0	0.0018	0	0	0.0021	0.0027	0.0011	0.0013325	206	154602	rs147991342	0.0011	0.0011	0.0011	0.0012	0.0151	0.0011	0.0011	0.0122	0.0112	0.0013	0.0015	0.0198	0	0.0001	0.0151	0.0006	0.0030	0.0012	0.0014	0.0014	0.0012	0.0015	0.0022	0.0012	0.0011	0.0016	0.0014	0.0003	0	0.0022	0.0181	0	0	0.0238	0.0011	0.0066	0.0012	0.0	0.91255	D	0.017	0.62352	D	0.982	0.60036	D	0.715	0.54683	P	0.002126	0.37183	N	0.000000	0.981389	0.39771	D	1.145	0.29067	L	3.48	0.07125	T	-1.13	0.29114	N	0.301	0.37405	-1.0532	0.13520	T	0.025	0.10598	T	10	0.0071959794	0.00164	T	0.008607	0.22755	T	0.117	0.32689	.	.	0.577006569591	0.57369	0.05369935016967154	0.05311	1.27873789098	0.82476	0.670651495457	0.62931	T	0.045	0.27142	T	-0.412016	0.01927	T	-0.389237	0.34640	T	0.0370458097129067	0.03163	T	0.740126	0.35895	T	0.22234738	0.44832	0.19705257	0.43467	0.22234738	0.44832	0.19705257	0.43466	-4.54	0.31408	T	.	.	0.092	0.14062	B	.;.;.;.;.	.;.;.;.;.	4.408633	0.68188	25.2	0.99853275999709379	0.93279	0.47008	0.27887	N	AEFDBI	0.353208	0.44571	N	0.109257060374689	0.46894	2.922898	0.10649131400719	0.44878	2.761277	0.968378495061388	0.29047	0.651	0.46895	0	0.708844	0.79440	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.09	5.09	0.68647	3.281000	0.51389	.	.	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	15.987	0.79960	744	0.52588	Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	553.98	21	chr16	3141330	.	G	A	553.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.537e+00;DP=645;ExcessHet=0.0000;FS=5.978;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.29;ReadPosRankSum=0.487;SOR=0.136	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1094	20	0	1	0
chr16	3244068	3244068	C	T	splicing	MEFV	NM_001198536:exon8:c.1127-1G>A	.	.	Familial Mediterranean fever, AD, Autosomal dominant;Familial Mediterranean fever, AR, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	0.0095	0.04	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.688	11.60	4.72	2.567	0.550	13.91	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs538863514	2.501e-05	2.394e-05	2.68e-05	2.317e-05	3.15e-05	1.816e-05	1.607e-05	2.267e-05	2e-05	0	0	0	0	0	0	3.15e-05	1.722e-05	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.441439	0.01268	T	-0.766588	0.02882	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.034697	0.14151	10.72	0.95259526037828035	0.26526	0.21232	0.21328	N	AEFDBHCI	.	.	.	-0.216980954190139	0.32437	1.829299	-0.297752256477207	0.28173	1.568679	0.999999600041775	0.74766	0.056701	0.00814	0	0.063554	0.01753	0	0.060301	0.00762	0	0.058706	0.01089	0	0.954737	0.63183	4.72	4.72	0.59248	0.357000	0.19935	.	.	0.599000	0.40250	0.002000	0.15269	0.003000	0.18671	0.018000	0.11154	0.0:1.0:0.0:0.0	13.91	0.63364	784	0.47045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1282.98	39	chr16	3244068	.	C	T	1282.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.846;DP=1406;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=0.196;SOR=0.637	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr16	3256323	3256323	C	T	exonic	MEFV	.	nonsynonymous SNV	MEFV:NM_000243:exon1:c.G265A:p.A89T	Familial Mediterranean fever, AD, Autosomal dominant;Familial Mediterranean fever, AR, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	103405	Familial_Mediterranean_fever|Familial_Mediterranean_fever,_autosomal_dominant|Acute_febrile_neutrophilic_dermatosis|not_specified	MONDO:MONDO:0018088,MedGen:C0031069,OMIM:249100,Orphanet:342|MONDO:MONDO:0007601,MedGen:C1851347,OMIM:134610,Orphanet:342|MONDO:MONDO:0011959,MedGen:C0085077,OMIM:608068,Orphanet:3243|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.995	D	0.862	P	0.462	N	1.000	N	2.095	M	0.38	T	-0.838	T	0.260	T	0.728	3.683	18.71	4.03	0.861	0.952	7.667	0.327	0.04338119536	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs104895124	9.579e-06	9.577e-06	1.089e-05	8.253e-06	8.963e-05	5.56e-06	4.35e-06	2.985e-05	1.804e-05	8.963e-05	8.946e-05	0	0	0	0	5.396e-06	1.656e-05	0	1.971e-05	1.97e-05	1.284e-05	2.689e-05	0.0001	5.24e-06	2.45e-06	2.261e-05	9.07e-06	2.412e-05	0	0.0001	0	0	0	0	0	0	0	0.004	0.65419	D	0.01	0.65728	D	0.995	0.67487	D	0.862	0.61339	P	0.462479	0.12374	N	0.718553	1	0.08975	N	1.83	0.48079	L	0.38	0.57575	T	-1.99	0.46673	N	0.135	0.13198	-0.8378	0.52793	T	0.260	0.63055	T	10	0.24416816	0.41643	T	0.043381	0.60956	D	0.327	0.64926	0.716	0.85141	0.776258990654	0.77419	0.25332777736357565	0.25246	0.209460660438	0.23414	0.275433540344	0.06864	T	0.332551	0.70250	T	-0.0862495	0.38694	T	-0.1789	0.56625	T	0.119044836646206	0.14336	T	0.853215	0.53849	D	0.12759422	0.29854	0.13456117	0.32240	0.119756326	0.28191	0.13795117	0.32959	-7.669	0.59906	D	.	.	0.121	0.39168	B	.;.;.;.	.;.;.;.	2.592526	0.33630	19.40	0.99839871169604388	0.92057	0.06162	0.12144	N	AEFDGBI	0.119344	0.23296	N	-0.0448386388082951	0.39833	2.355527	-0.228680098778615	0.30512	1.718682	0.999994666492279	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.98	4.03	0.46115	0.556000	0.23144	.	.	0.549000	0.26987	0.001000	0.13787	0.829000	0.27196	0.088000	0.17685	0.1625:0.7553:0.0:0.0821	7.667	0.27603	769	0.49307	DAPIN domain;DAPIN domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	786.98	33	chr16	3256323	.	C	T	786.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.577e+00;DP=756;ExcessHet=0.0000;FS=1.332;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.13;ReadPosRankSum=-1.139e+00;SOR=0.477	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1020	20	0	1	0
chr16	3286033	3286033	G	T	exonic	ZNF263	.	nonsynonymous SNV	ZNF263:NM_005741:exon4:c.G653T:p.S218I,	.	.	430	1080	12	0	0	12	0.00552486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.611	P	0.321	B	0.000	D	1.000	D	1.645	L	5.61	T	-0.549	T	0.004	T	0.535	1.666	11.53	3.93	2.813	0.682	8.270	0.161	0.0183412424533	0.0002	0.000199681	0.0005	0	0	0	0.0003	0.0003	0.0011	0.0019	0.0004075	63	154602	rs138244751	0.0003	0.0003	0.0003	0.0004	0.0031	0.0003	0.0003	0.0020	0.0017	2.99e-05	0.0002	0	0	7.489e-05	0.0031	0.0003	0.0004	0.0016	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	0.0002	4.813e-05	0	0.0003	0	0	9.416e-05	0	0.0003	0.0005	0.0006	0.155	0.24183	T	0.045	0.49390	D	0.611	0.39680	P	0.321	0.41760	B	0.000080	0.52346	D	0.085765	1	0.81001	D	1.785	0.46417	L	5.61	0.02815	T	-1.3	0.32590	N	0.561	0.58543	-0.5494	0.66810	T	0.004	0.01295	T	10	0.017996043	0.00388	T	0.018341	0.40371	T	0.161	0.41658	.	.	0.158396225186	0.15383	0.4583040756230298	0.45748	0.653526832731	0.58486	0.411833167076	0.26710	T	0.027615	0.20184	T	-0.437505	0.01338	T	-0.42585	0.30407	T	0.051810188323888	0.05815	T	0.360864	0.08314	T	0.14066775	0.32445	0.12769459	0.30733	0.14066775	0.32444	0.12769459	0.30732	-4.599	0.32159	T	.	.	0.230	0.46250	B	.;.	.;.	3.658033	0.51955	23.2	0.91048365863609571	0.20300	0.44354	0.27300	N	AEFDBCI	0.117475	0.23012	N	0.157606029343403	0.49173	3.120642	0.257122359927688	0.53055	3.476513	0.999958019948732	0.48110	0.645754	0.44609	0	0.696144	0.67643	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.96	3.93	0.44666	0.826000	0.27061	.	.	0.676000	0.76740	0.978000	0.35038	1.000000	0.68203	0.999000	0.91618	0.0:0.1801:0.6547:0.1652	8.270	0.30998	707	0.57054	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;SCAN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	874.98	90	chr16	3286033	.	G	T	874.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.674;DP=806;ExcessHet=0.0000;FS=0.844;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.72;ReadPosRankSum=0.264;SOR=0.846	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1342	20	0	1	0
chr16	3308689	3308689	A	G	exonic	ZNF75A	.	nonsynonymous SNV	ZNF75A:NM_001302109:exon2:c.A261G:p.I87M	.	.	936	583	2	1	0	4	0.0034188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs530992366	0.0001	0.0001	0.0001	0.0001	0.0010	0.0001	0.0001	0.0006	0.0005	6.218e-05	0	0	0	0	0.0006	0.0001	0.0005	0.0010	0.0002	0.0002	3.854e-05	0.0003	0.0025	0.0001	9.232e-05	0.0014	0.0011	0	0	6.537e-05	0.0003	0	0	0	0.0001	0	0.0025	.	.	.	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.655	0.66529	.	.	.	.	.	.	.	0.1594382	0.29957	T	.	.	.	.	.	.	.	0.400468435593	0.39662	.	.	.	.	.	.	.	0.107769	0.42024	T	-0.113997	0.34108	T	-0.401525	0.33206	T	.	.	.	0.745225	0.36553	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.31882	B	.	.	2.410259	0.30976	18.60	0.82952905494435003	0.14463	0.33695	0.24890	N	AEFBI	.	.	.	.	.	.	.	.	.	0.0949546519968265	0.16216	0.359288	0.05646	0	0.340432	0.05866	0	0.320204	0.05785	0	0.221052	0.04502	0	0.373345	0.36908	4.52	1.32	0.20897	0.007000	0.13074	.	.	0.756000	0.94297	0.249000	0.24839	0.001000	0.17328	0.968000	0.53726	0.2647:0.5102:0.0:0.2251	3.515	0.07282	774	0.48577	SCAN domain|SCAN domain|SCAN domain|SCAN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1452.98	33	chr16	3308689	.	A	G	1452.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=821;ExcessHet=0.0000;FS=1.496;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=0.680;SOR=0.872	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr16	3383622	3383622	A	G	exonic	ZSCAN32	.	nonsynonymous SNV	ZSCAN32:NM_001284529:exon3:c.T457C:p.S153P	.	.	435	1081	6	0	0	6	0.00276753	.	.	2340881	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.013	B	0.004	B	0.462	U	1.000	N	1.545	L	3.11	T	-1.002	T	0.015	T	0.197	2.486	14.27	1.91	0.492	0.595	6.288	0.005	0.00145467599887	.	0.000599042	0.0004	9.653e-05	0.0005	0	0	0.0004	0	0.0011	0.000401	62	154602	rs182222831	0.0003	0.0003	0.0002	0.0003	0.0015	0.0003	0.0003	0.0013	0.0012	2.987e-05	0.0004	0.0026	0	0	0.0012	0.0001	0.0006	0.0015	0.0004	0.0004	0.0003	0.0005	0.0019	0.0003	0.0003	0.0010	0.0007	2.413e-05	0	0.0007	0.0029	0	0	0	0.0003	0.0005	0.0019	0.026	0.51248	D	0.05	0.55759	T	.	.	.	.	.	.	0.462347	0.12376	U	0.588655	1	0.08975	N	0.855	0.21307	L	3.11	0.08721	T	-1.27	0.34198	N	0.231	0.27077	-1.0017	0.29430	T	0.015	0.05897	T	10	0.006957531	0.00158	T	0.001455	0.02189	T	0.005	0.00259	.	.	0.225902525712	0.22197	0.07864355475788827	0.07799	0.0612328423319	0.06815	0.259156167507	0.04791	T	0.013701	0.11803	T	-0.561471	0.00249	T	-0.629732	0.10435	T	0.0226711883491411	0.00985	T	0.345765	0.07588	T	0.19129437	0.40751	0.22318006	0.47187	0.19129437	0.40750	0.22318006	0.47186	-2.568	0.12395	T	.	.	0.457	0.63557	A	.;.;.;.;.	.;.;.;.;.	1.521698	0.19533	14.31	0.9907796126617413	0.51882	0.00025	0.00253	N	AEFDBHCI	0.105403	0.21061	N	-0.775081197281657	0.13962	0.6917037	-0.817552655113372	0.14070	0.7332935	0.0185153650591184	0.13067	0.566229	0.32551	0	0.653731	0.59785	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	4.16	1.91	0.24841	1.310000	0.33156	.	.	0.756000	0.94297	0.001000	0.13787	0.000000	0.08366	0.122000	0.19250	0.7807:0.0:0.2193:0.0	6.288	0.20251	809	0.43032	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	765.98	33	chr16	3383622	.	A	G	765.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.056e+00;DP=739;ExcessHet=0.0000;FS=0.979;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=1.14;SOR=0.536	GT:AD:DP:GQ:PL	0/1:29,33:62:99:780,0,748	20	0	1	0
chr16	3393703	3393703	G	A	exonic	ZSCAN32	.	nonsynonymous SNV	ZSCAN32:NM_001324343:exon2:c.C79T:p.P27S	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	.	.	3.15	T	-0.939	T	0.006	T	0.106	2.195	13.30	-5.94	-0.670	-0.900	1.464	0.017	0.00106892973446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.153e-07	6.84e-07	1.411e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.28520	T	0.512	0.10750	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.895	0.22405	L	3.15	0.07820	T	-0.53	0.16393	N	0.077	0.05162	-0.9392	0.42743	T	0.006	0.02093	T	8	0.05839342	0.06858	T	0.001069	0.01239	T	0.017	0.02790	0.35	0.34760	0.0551355673512	0.04727	0.14535768926228101	0.14458	.	.	0.215341031551	0.01058	T	0.00828	0.11335	T	-0.365278	0.03840	T	-0.762473	0.03025	T	0.0422493378733353	0.04101	T	0.212379	0.04184	T	0.020769214	0.00649	0.035767052	0.02892	0.020769214	0.00648	0.035767052	0.02892	-3.587	0.17669	T	.	.	0.155	0.34383	B	.;.;.;.;.	.;.;.;.;.	0.102090	0.05034	1.582	0.97800000283297861	0.36058	0.00414	0.02050	N	AEFBI	0.025028	0.01644	N	-1.33009983557517	0.03336	0.1488375	-1.44645314842266	0.02802	0.1295667	0.993639088578783	0.33294	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.12	-5.94	0.02060	-1.018000	0.03737	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.3944:0.1422:0.3241:0.1393	1.464	0.02257	749	0.51929	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1301.98	37	chr16	3393703	.	G	A	1301.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=776;ExcessHet=0.0000;FS=4.330;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.69;ReadPosRankSum=-9.000e-03;SOR=1.122	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1152	20	0	1	0
chr16	3443135	3443135	T	C	exonic	ZNF597	.	nonsynonymous SNV	ZNF597:NM_152457:exon2:c.A19G:p.T7A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	0.002	B	0.005	B	0.668	N	1.000	N	0.595	N	3.28	T	-0.926	T	0.008	T	0.063	1.999	12.64	-5.33	-1.159	-1.178	0.899	0.009	0.00196795358674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.17584	T	0.069	0.43913	T	0.002	0.09854	B	0.005	0.11217	B	0.667624	0.06017	N	1.194250	1	0.08975	N	1.075	0.27130	L	3.28	0.06523	T	-0.74	0.20791	N	0.194	0.21319	-0.9264	0.44659	T	0.008	0.02926	T	10	0.055649072	0.06116	T	0.001968	0.03535	T	0.009	0.00846	0.278	0.23164	0.112648838833	0.10856	0.12432443091957487	0.12358	0.0426198176388	0.04596	0.308933615685	0.11746	T	0.002873	0.02268	T	-0.402232	0.02239	T	-0.815555	0.01544	T	0.0718930810689926	0.08914	T	0.165683	0.01531	T	0.03335507	0.03538	0.030106364	0.01426	0.03335507	0.03538	0.030106364	0.01426	-3.08	0.11068	T	.	.	0.094	0.14431	B	.	.	0.012763	0.04370	1.125	0.88434883957459731	0.17974	0.03801	0.09131	N	AEFDBCI	0.063675	0.12319	N	-1.42077330979092	0.02456	0.1085077	-1.49570536276879	0.02379	0.1093233	0.999998881785166	0.74766	0.493124	0.18060	0	0.484254	0.07192	0	0.694767	0.63188	0	0.627883	0.49187	0	.	.	4.44	-5.33	0.02503	-0.992000	0.03835	.	.	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.063000	0.16184	0.2586:0.32:0.1326:0.2887	0.899	0.01190	657	0.62240	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2269.98	166	chr16	3443135	.	T	C	2269.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.020e-01;DP=876;ExcessHet=0.0000;FS=3.615;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.67;ReadPosRankSum=0.219;SOR=0.926	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1228	20	0	1	0
chr16	3484831	3484831	C	G	exonic	NAA60	.	nonsynonymous SNV	NAA60:NM_001317096:exon5:c.C478G:p.H160D	.	.	415	1056	47	4	0	55	0.0253807	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.703	T	0.178	T	.	3.905	19.86	3.79	1.482	2.935	5.546	0.232	.	0.0061	0.00519169	0.0140	0.0024	0.0087	0	0.0227	0.0175	0.0087	0.0133	0.0058537	905	154602	rs17793994	0.0087	0.0087	0.0085	0.0090	0.0111	0.0086	0.0086	0.0105	0.0103	0.0014	0.0038	0.0118	5.464e-05	0.0095	0.0103	0.0091	0.0083	0.0111	0.0072	0.0072	0.0067	0.0077	0.0135	0.0068	0.0067	0.0108	0.0099	0.0017	0.0143	0.0035	0.0084	0.0006	0.0119	0	0.0106	0.0071	0.0135	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	-2.4	0.52776	N	0.441	0.47949	-0.7027	0.60309	T	0.178	0.52381	T	5	0.0051259995	0.00111	T	.	.	.	0.232	0.53354	.	.	0.082315109003	0.07666	.	.	.	.	.	.	.	.	.	.	-0.481957	0.00720	T	-0.454687	0.27180	T	0.0682118217340819	0.08399	T	0.30127	0.05674	T	.	.	.	.	.	.	.	.	-3.817	0.21059	T	.	.	0.156	0.34602	B	.	.	1.187958	0.15789	12.10	0.99286555919033248	0.58113	0.91750	0.54184	D	AEFBCI	0.375027	0.45971	N	0.254229443074431	0.53848	3.552079	0.312216166203192	0.56258	3.78877	0.866369319914896	0.25327	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.84	3.79	0.42757	3.250000	0.51146	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.1447:0.6403:0.1399:0.0751	5.546	0.16353	630	0.65016	.	DNASE1	Brain_Cerebellum	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2904.11	42	chr16	3484831	.	C	G	2904.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-7.180e-01;DP=909;ExcessHet=0.1072;FS=1.018;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.79;ReadPosRankSum=-2.180e-01;SOR=0.772	GT:AD:DP:GQ:PL	0/1:54,61:115:99:1547,0,1399	19	0	2	0
chr16	3589698	3589698	G	T	exonic	SLX4	.	nonsynonymous SNV	SLX4:NM_032444:exon12:c.C3940A:p.Q1314K,	Fanconi anemia, complementation group P, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	341389	Fanconi_anemia|Fanconi_anemia_complementation_group_P|not_provided|not_specified	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0013499,MedGen:C3469542,OMIM:613951,Orphanet:84|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.78	T	0.958	D	0.477	P	0.623	U	1.000	N	1.5	L	5.3	T	-0.821	T	0.006	T	0.227	2.316	13.70	6.07	2.884	2.827	16.144	0.122	0.0639836125001	7.7e-05	.	0.0003	9.636e-05	8.648e-05	0	0	0.0004	0.0011	0.0001	0.0002135	33	154602	rs142040192	0.0002	0.0002	0.0002	0.0002	0.0043	0.0002	0.0002	0.0030	0.0026	2.987e-05	0.0001	0.0006	0	0	0.0043	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	7.237e-05	0	6.546e-05	0	0	0	0	0.0004	0.0005	0	0.136	0.26085	T	0.269	0.22426	T	0.958	0.54977	D	0.477	0.46994	P	0.622834	0.10761	U	0.580559	0.99988	0.19925	N	1.445	0.36358	L	5.3	0.01093	T	-0.67	0.19297	N	0.246	0.27792	-0.8209	0.53877	T	0.006	0.02206	T	10	0.098507315	0.17815	T	0.063984	0.69136	D	0.122	0.33800	.	.	0.241078983079	0.23725	0.21400031943291542	0.21316	0.0874347992655	0.09857	0.224024504423	0.01555	T	0.07126	0.34164	T	-0.451384	0.01109	T	-0.580181	0.14528	T	0.0369921701535479	0.03154	T	0.433957	0.11861	T	0.1427332	0.32834	0.08858551	0.20664	0.1427332	0.32833	0.08858551	0.20664	-3.894	0.22212	T	.	.	0.126	0.26576	B	.	.	2.029930	0.25802	16.89	0.7823442188661599	0.12213	0.66788	0.33200	D	ALL	0.200785	0.32749	N	-0.0289631156781996	0.40547	2.409814	-0.0540568249879941	0.37315	2.183185	1.0	0.98316	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	6.07	6.07	0.98675	2.512000	0.45146	.	.	0.271000	0.18527	0.121000	0.23193	0.076000	0.22303	0.377000	0.26268	0.0:0.0:1.0:0.0	16.144	0.81363	587	0.69154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4978.08	79	chr16	3589698	.	G	T	4978.08	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.508e+00;DP=1015;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=31.91;ReadPosRankSum=1.56;SOR=0.239	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	1	0	0
chr16	3602235	3602235	C	T	exonic	SLX4	.	nonsynonymous SNV	SLX4:NM_032444:exon4:c.G833A:p.R278Q,	Fanconi anemia, complementation group P, Autosomal recessive	.	0	1515	7	0	0	7	0.00230491	.	.	465722	not_provided|Fanconi_anemia_complementation_group_P|Fanconi_anemia	MedGen:C3661900|MONDO:MONDO:0013499,MedGen:C3469542,OMIM:613951,Orphanet:84|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.009	B	0.004	B	0.534	N	1.000	N	0.09	N	5.12	T	-0.927	T	0.002	T	0.021	-0.773	0.750	-5.38	-1.037	0.298	5.120	0.024	0.0343296478226	7.7e-05	0.000399361	0.0007	0	0.0003	0	0	0.0003	0.0033	0.0038	0.0005757	89	154602	rs201192909	0.0003	0.0003	0.0002	0.0005	0.0035	0.0003	0.0003	0.0032	0.0031	8.961e-05	0.0002	0	2.519e-05	0	0.0014	0.0001	0.0003	0.0035	0.0002	0.0002	0.0002	0.0003	0.0029	0.0002	0.0001	0.0018	0.0014	0	0	6.535e-05	0	0.0004	0	0	0.0002	0.0009	0.0029	0.916	0.02332	T	1.0	0.01155	T	0.009	0.15093	B	0.004	0.10090	B	0.534142	0.11606	N	0.801221	1	0.08975	N	0	0.06538	N	5.12	0.01218	T	0.33	0.03889	N	0.122	0.11340	-0.9271	0.44559	T	0.002	0.00676	T	10	0.006465614	0.00146	T	0.03433	0.55601	D	0.024	0.04979	.	.	0.0611884634855	0.05136	0.07861405720206786	0.07796	0.062198665946	0.06926	0.205301433802	0.00627	T	0.024544	0.18527	T	-0.723764	0.00026	T	-0.813886	0.01580	T	0.0050743166769389	0.00055	T	0.493751	0.15260	T	0.0105818305	0.00008	0.01879076	0.00066	0.0105818305	0.00008	0.01879076	0.00066	-2.72	0.07472	T	.	.	0.075	0.05535	B	.	.	1.334857	0.17408	13.14	0.77479374053069294	0.11893	0.03841	0.09191	N	AEFDBI	0.025755	0.01818	N	-1.56585813496365	0.01444	0.0629978	-1.54202199592195	0.02032	0.09285101	0.0137463962226935	0.12505	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.83	-5.38	0.02465	0.266000	0.18300	.	.	-1.584000	0.00915	0.467000	0.26699	0.005000	0.19230	0.033000	0.13494	0.0958:0.1686:0.0971:0.6385	5.120	0.14187	588	0.69043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2297.98	34	chr16	3602235	.	C	T	2297.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.09;DP=870;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=0.996;SOR=0.726	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1220	20	0	1	0
chr16	3655478	3655478	G	C	exonic	DNASE1	.	nonsynonymous SNV	DNASE1:NM_005223:exon2:c.G105C:p.E35D	.	.	409	1101	11	1	0	13	0.00586907	.	.	2811000	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.82	T	0.001	B	0.008	B	0.001	N	1.000	D	0.585	N	0.32	T	-1.077	T	0.057	T	0.1	0.713	7.799	2.35	0.263	0.607	2.783	0.020	0.00420915607097	0.0043	0.00179712	0.0040	0.0011	0.0024	0	0.0077	0.0057	0.0066	0.0002	0.0039391	609	154602	rs34907394	0.0048	0.0048	0.0048	0.0048	0.0094	0.0047	0.0047	0.0074	0.0067	0.0007	0.0030	0.0031	0	0.0066	0.0094	0.0054	0.0039	0.0007	0.0036	0.0036	0.0033	0.0039	0.0054	0.0033	0.0032	0.0050	0.0048	0.0007	0	0.0037	0.0020	0	0.0062	0.0068	0.0054	0.0057	0.0004	0.719	0.03937	T	1.0	0.01155	T	0.001	0.07471	B	0.008	0.13708	B	0.001348	0.39310	N	0.284400	1	0.81001	D	1.63	0.41750	L	0.32	0.58468	T	1.59	0.00660	N	0.156	0.16168	-1.0771	0.07922	T	0.057	0.23904	T	10	0.0064407587	0.00146	T	0.004209	0.10153	T	0.020	0.03691	0.37	0.38013	0.421550847248	0.41774	0.6230731396441008	0.62240	0.00669680874539	0.00592	0.41994330287	0.27828	T	0.070235	0.33909	T	-0.520298	0.00438	T	-0.51712	0.20587	T	0.00266594604911538	0.00028	T	0.728927	0.34400	T	0.25621912	0.48660	0.0993211	0.23709	0.25621912	0.48660	0.0993211	0.23708	-3.947	0.23008	T	.	.	0.163	0.35972	B	.;.	.;.	1.060269	0.14419	10.99	0.89907885940127696	0.19208	0.44793	0.27396	N	AEFBCI	0.113087	0.22328	N	-0.784045462461887	0.13725	0.6782469	-0.608971251152748	0.19262	1.032697	0.999670807394452	0.41644	0.722319	0.85440	0	0.577304	0.33150	0	0.698795	0.65105	0	0.491896	0.07777	0	.	.	5.39	2.35	0.28166	0.603000	0.23848	.	.	-0.113000	0.14837	0.978000	0.35038	0.966000	0.29516	0.993000	0.69303	0.1622:0.1532:0.5448:0.1399	2.783	0.05036	596	0.68392	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1208.98	33	chr16	3655478	.	G	C	1208.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.923;DP=827;ExcessHet=0.0000;FS=0.665;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.23;ReadPosRankSum=0.859;SOR=0.813	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1287	20	0	1	0
chr16	3657256	3657256	C	T	exonic	DNASE1	.	nonsynonymous SNV	DNASE1:NM_005223:exon7:c.C619T:p.R207C	.	.	420	1096	6	0	0	6	0.00272975	.	.	247118	not_provided|not_specified|Systemic_lupus_erythematosus	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0002725,MONDO:MONDO:0007915,MedGen:C0024141,OMIM:152700,Orphanet:536	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.47	M	1.15	T	0.826	D	0.791	D	0.922	4.417	23.4	5.07	2.364	4.555	17.470	0.598	.	0.0011	0.00359425	0.0013	0.0017	0.0011	0.0007	0.0002	0.0007	0.0111	0.0034	0.0012354	191	154602	rs148373909	0.0013	0.0013	0.0011	0.0014	0.0034	0.0012	0.0012	0.0031	0.0029	0.0029	0.0011	3.826e-05	0.0006	0.0002	0.0028	0.0012	0.0014	0.0034	0.0016	0.0016	0.0017	0.0015	0.0050	0.0015	0.0014	0.0034	0.0029	0.0023	0	0.0022	0	0.0002	0	0.0068	0.0012	0.0028	0.0050	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.865	0.95877	H	-1.56	0.81815	D	-7.9	0.96191	D	0.586	0.60664	0.826	0.94733	D	0.791	0.92931	D	10	0.023278147	0.00604	T	.	.	.	0.598	0.84074	.	.	0.891967515596	0.89089	0.9168392154333195	0.91658	0.0304920833542	0.03150	0.562246441841	0.47584	T	0.843099	0.96358	D	0.105533	0.64884	D	0.377025	0.91322	D	0.204867696822105	0.20682	T	0.933907	0.79612	D	0.89757496	0.91167	0.7094225	0.82862	0.89757496	0.91169	0.7094225	0.82863	-11.092	0.80160	D	.	.	0.271	0.51262	B	.;.;.;.	.;.;.;.	5.215172	0.87515	29.3	0.99934680761057881	0.99535	0.90920	0.52512	D	AEFDGBHCI	0.697500	0.65549	D	0.794916553693268	0.85786	8.681413	0.690688715814908	0.81669	7.581621	0.999999999999995	0.74766	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	5.07	5.07	0.68106	4.414000	0.59555	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.439000	0.27649	0.0:1.0:0.0:0.0	17.470	0.87538	600	0.68026	Endonuclease/exonuclease/phosphatase;Endonuclease/exonuclease/phosphatase;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3050.11	36	chr16	3657256	.	C	T	3050.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.59;DP=917;ExcessHet=0.1072;FS=0.491;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=0.594;SOR=0.762	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	19	0	2	0
chr16	3664410	3664410	-	CGG	exonic	TRAP1	.	nonframeshift insertion	TRAP1:NM_001272049:exon12:c.1273_1274insCCG:p.S424_G425insA	.	.	436	1057	29	0	0	29	0.0135324	.	.	714907	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0036	0.00499201	0.0071	0.0008	0.0046	0	0.0007	0.0059	0.0116	0.0222	0.004111	107	26028	rs201472428	0.0061	0.0061	0.0055	0.0066	0.0210	0.0059	0.0059	0.0202	0.0198	0.0009	0.0029	0.0068	0	0.0008	0.0123	0.0056	0.0059	0.0210	0.0041	0.0041	0.0038	0.0045	0.0203	0.0039	0.0037	0.0170	0.0158	0.0009	0.0110	0.0039	0.0055	0	0.0004	0.0034	0.0057	0.0052	0.0203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2105.94	38	chr16	3664410	.	C	CCGG	2105.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.761;DP=800;ExcessHet=0.0000;FS=0.752;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.45;ReadPosRankSum=0.789;SOR=0.554	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1279	20	0	1	0
chr16	3767747	3767747	T	C	exonic	CREBBP	.	nonsynonymous SNV	CREBBP:NM_001079846:exon15:c.A3109G:p.T1037A	Rubinstein-Taybi syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1916696	Rubinstein-Taybi_syndrome	MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.59	T	0.0	B	0.002	B	0.000	N	1.000	D	0.895	L	2.22	T	-1.062	T	0.028	T	0.157	1.364	10.49	4.47	1.007	0.597	10.787	0.141	0.00191989998525	.	.	1.647e-05	0	0	0	0	1.498e-05	0	6.056e-05	1.29e-05	2	154602	rs774615320	8.893e-06	8.893e-06	4.084e-06	1.375e-05	0.0002	4.96e-06	3.82e-06	4.55e-06	3.32e-06	0	2.236e-05	0	0	0	0.0002	8.993e-06	0	1.159e-05	1.97e-05	1.97e-05	2.568e-05	1.344e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.659	0.04817	T	0.829	0.04930	T	0.0	0.02946	B	0.002	0.06944	B	0.000016	0.62929	N	0.069968	0.999804	0.49283	D	0.69	0.16971	N	2.22	0.18248	T	-1.27	0.31981	N	0.123	0.12484	-1.0623	0.11190	T	0.028	0.12190	T	10	0.062888086	0.08110	T	0.00192	0.03404	T	0.141	0.37795	0.113	0.02240	0.255117706274	0.25116	0.19473161259116528	0.19391	0.0526653030617	0.05800	0.423468589783	0.28314	T	0.47238	0.80468	T	-0.315157	0.07302	T	-0.593624	0.13354	T	0.025541351612379	0.01344	T	0.70443	0.33902	T	0.052435014	0.09778	0.06417583	0.12823	0.052435014	0.09777	0.06417583	0.12823	-3.239	0.12963	T	0.1432735765854394	0.16274	0.067	0.02548	B	.;.;.	.;.;.	1.739475	0.22138	15.50	0.7866595757555136	0.12399	0.67026	0.33284	D	AEFDGBI	0.107708	0.21451	N	-0.572302807897003	0.19789	1.038482	-0.436983399686465	0.23919	1.307052	0.9999992570971	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.61	4.47	0.53770	1.067000	0.30227	.	.	0.665000	0.62972	0.820000	0.29989	0.713000	0.26304	0.555000	0.30293	0.0:0.0808:0.0:0.9192	10.787	0.45614	675	0.60470	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	951.98	34	chr16	3767747	.	T	C	951.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=768;ExcessHet=0.0000;FS=2.024;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=0.206;SOR=1.006	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1235	20	0	1	0
chr16	3781229	3781229	G	T	exonic	CREBBP	.	nonsynonymous SNV	CREBBP:NM_001079846:exon6:c.C1537A:p.L513I	Rubinstein-Taybi syndrome 1, Autosomal dominant	YES	1	1445	71	5	0	81	0.0272635	.	.	100926	Inborn_genetic_diseases|not_specified|Rubinstein-Taybi_syndrome|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.17	T	0.604	P	0.369	B	0.000	D	1.000	D	1.28	L	-1.75	D	-0.226	T	0.400	T	0.54	2.237	13.44	5.49	2.578	5.707	19.361	0.382	.	0.0087	0.00638978	0.0100	0.0019	0.0047	0.0178	0.0021	0.0117	0.0188	0.0106	0.009366	1448	154602	rs61753381	0.0099	0.0100	0.0097	0.0102	0.0370	0.0098	0.0098	0.0329	0.0313	0.0019	0.0055	0.0583	0.0236	0.0019	0.0370	0.0087	0.0137	0.0113	0.0076	0.0076	0.0077	0.0076	0.0129	0.0073	0.0071	0.0104	0.0095	0.0017	0	0.0086	0.0617	0.0129	0.0012	0.0340	0.0084	0.0128	0.0114	0.052	0.39575	T	0.302	0.21144	T	0.604	0.39417	P	0.369	0.43514	B	0.000003	0.62929	D	0.000000	0.99998	0.54805	D	1.225	0.30651	L	-1.75	0.83578	D	-1.15	0.30140	N	0.233	0.26233	-0.2255	0.77006	T	0.400	0.75166	T	10	0.007070422	0.00161	T	.	.	.	0.382	0.69946	.	.	.	.	0.19137380748694238	0.19055	1.331011174	0.83652	0.601731181145	0.53148	T	0.473339	0.80524	T	-0.233667	0.16167	T	-0.0947976	0.63798	T	0.0174632381218672	0.00482	T	0.791621	0.43272	T	0.20917833	0.43177	0.17703225	0.40277	0.20866819	0.43111	0.17703225	0.40276	-4.376	0.29230	T	0.2561851620090893	0.34633	0.087	0.15206	B	.;.;.	.;.;.	4.105940	0.61261	24.3	0.93890401688013392	0.23914	0.96778	0.70889	D	AEFBI	0.617639	0.60374	D	0.271685724131068	0.54720	3.636797	0.373597985528741	0.59941	4.176549	0.999998223959344	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.49	5.49	0.81022	5.816000	0.68900	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.876000	0.41813	0.0:0.0:1.0:0.0	19.361	0.94429	580	0.69689	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.119	9875.44	33	chr16	3781229	.	G	T	9875.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-6.200e-01;DP=1574;ExcessHet=1.1607;FS=1.168;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=10.10;ReadPosRankSum=0.238;SOR=0.839	GT:AD:DP:GQ:PL	0/1:126,66:192:99:1529,0,3361	16	0	5	0
chr16	3966931	3966931	C	T	exonic	ADCY9	.	nonsynonymous SNV	ADCY9:NM_001116:exon11:c.G2906A:p.R969H,	.	.	424	1086	11	1	0	13	0.00594966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.0	B	0.0	B	0.452	N	1.000	N	0	N	-1.67	D	-0.863	T	0.248	T	0.045	0.602	7.245	-7.33	-1.252	-2.438	8.139	0.158	0.0220263285353	0.0024	0.000998403	0.0030	0.0004	0.0006	0	0.0021	0.0040	0.0011	0.0041	0.0028266	437	154602	rs141519764	0.0043	0.0043	0.0044	0.0042	0.0049	0.0042	0.0041	0.0048	0.0048	0.0007	0.0005	0.0011	2.519e-05	0.0027	0.0038	0.0049	0.0025	0.0043	0.0024	0.0024	0.0025	0.0023	0.0042	0.0022	0.0021	0.0038	0.0036	0.0008	0	0.0005	0.0017	0	0.0018	0	0.0042	0.0019	0.0033	0.129	0.26852	T	0.146	0.32891	T	0.0	0.02946	B	0.0	0.01387	B	0.451710	0.04819	N	1.279070	1	0.08975	N	-1.1	0.00987	N	-1.67	0.82806	D	-0.18	0.09796	N	0.018	0.00252	-0.8630	0.51046	T	0.248	0.61704	T	10	0.005517155	0.00122	T	0.022026	0.44874	T	0.158	0.41098	.	.	0.389676119804	0.38580	0.43503127525865926	0.43420	0.521912766462	0.49941	0.176036298275	0.00063	T	0.232991	0.59969	T	-0.563579	0.00242	T	-0.577191	0.14797	T	0.000746427757740348	0.00007	T	0.132987	0.01049	T	0.01840083	0.00361	0.024957554	0.00525	0.01840083	0.00361	0.024957554	0.00525	-4.029	0.24236	T	.	.	0.072	0.04316	B	.	.	-0.486938	0.01909	0.159	0.94667691793333741	0.25290	0.01727	0.05464	N	AEFBI	0.054329	0.09869	N	-1.36423328599246	0.02980	0.1324126	-1.42667796427062	0.02988	0.1385306	0.758767126015653	0.23476	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.63	-7.33	0.01284	-2.254000	0.01265	.	.	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0978:0.5708:0.1979:0.1336	8.139	0.30232	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1615.98	34	chr16	3966931	.	C	T	1615.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.89;DP=1159;ExcessHet=0.0000;FS=7.910;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=-6.800e-01;SOR=1.302	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr16	3966949	3966949	C	T	exonic	ADCY9	.	nonsynonymous SNV	ADCY9:NM_001116:exon11:c.G2888A:p.C963Y,	.	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.002	N	1.000	D	0.41	N	-1.67	D	-0.626	T	0.315	T	0.917	0.990	9.044	5.63	2.815	4.995	18.227	0.524	0.0173044270726	.	.	0.0001	0	0	0	0	0	0.0012	0.0008	7.76e-05	12	154602	rs774774591	4.453e-05	4.446e-05	2.862e-05	6.06e-05	0.0006	3.58e-05	3.262e-05	0.0005	0.0005	8.977e-05	0	0	0	0	0.0002	9e-07	8.291e-05	0.0006	1.314e-05	1.313e-05	1.284e-05	1.345e-05	0.0004	2.18e-06	8.2e-07	7.276e-05	3.024e-05	0	0	0	0	0	0	0	0	0	0.0004	0.585	0.05899	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.002127	0.37183	N	0.327832	0.999982	0.54805	D	1.645	0.42016	L	-1.67	0.82806	D	-1.05	0.27463	N	0.765	0.76296	-0.6265	0.63718	T	0.315	0.68469	T	10	0.25168264	0.42511	T	0.017304	0.38942	T	0.524	0.79825	0.248	0.18447	0.948913446785	0.94837	0.7661973599109158	0.76568	0.714846515739	0.61907	0.626230895519	0.56611	T	0.229676	0.59556	T	0.0379552	0.56777	T	0.197471	0.82989	D	0.0647067377038739	0.07887	T	0.832517	0.50110	T	0.17214699	0.37889	0.14515203	0.34435	0.17214699	0.37889	0.14515203	0.34434	-2.291	0.04506	T	.	.	0.466	0.63004	A	.	.	2.695682	0.35200	19.83	0.72346207133593698	0.09941	0.99409	0.95660	D	AEFBI	0.778506	0.71099	D	-0.339327052833041	0.27666	1.51976	-0.123890477137045	0.34430	1.980362	0.999999973601584	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.63	5.63	0.86108	3.977000	0.56581	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.427000	0.27384	0.0:1.0:0.0:0.0	18.227	0.89857	819	0.41190	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	921.98	34	chr16	3966949	.	C	T	921.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.800e-02;DP=897;ExcessHet=0.0000;FS=2.836;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.71;ReadPosRankSum=-1.480e-01;SOR=1.005	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr16	4192332	4192332	G	T	exonic	SRL	.	nonsynonymous SNV	SRL:NM_001098814:exon6:c.C1243A:p.L415M	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.911	P	0.465	P	0.001	U	1.000	D	1.245	L	1.51	T	-1.094	T	0.080	T	0.237	3.561	18.15	4.88	1.462	5.770	14.861	0.050	0.0066101636511	.	0.00179712	0.0008	0.0001	8.639e-05	0	0	0	0	0.0055	0.0006856	106	154602	rs575762035	0.0004	0.0004	0.0002	0.0005	0.0055	0.0003	0.0003	0.0051	0.0049	2.987e-05	2.236e-05	0	0	0	0.0012	2.698e-06	0.0005	0.0055	0.0002	0.0002	0.0001	0.0003	0.0064	0.0001	0.0001	0.0047	0.0040	0	0	0	0	0	0	0	0	0	0.0064	0.078	0.33923	T	0.091	0.40267	T	0.911	0.50336	P	0.465	0.46596	P	0.001012	0.40652	U	0.169570	0.999588	0.47691	D	.	.	.	1.48	0.31731	T	-0.46	0.14978	N	0.321	0.37405	-1.0937	0.04944	T	0.080	0.31586	T	10	0.010005832	0.00224	T	0.00661	0.17444	T	0.050	0.13987	0.308	0.27967	0.330589388543	0.32661	0.3127647051030744	0.31189	0.535373621245	0.50907	0.71551656723	0.69394	T	.	.	.	-0.511098	0.00495	T	-0.505014	0.21828	T	0.0754750617825561	0.09398	T	0.957504	0.83996	D	.	.	.	.	.	.	.	.	-9.481	0.70741	D	.	.	0.087	0.11414	B	.;.	.;.	3.768828	0.54117	23.4	0.99481273238177803	0.66904	0.93420	0.58169	D	AEFBHCI	0.897147	0.83901	D	0.399077685447299	0.61374	4.337446	0.462115811243948	0.65499	4.831486	0.999993688726965	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.83	4.88	0.63131	5.882000	0.69458	8.637000	0.77877	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0688:0.0:0.9312:0.0	14.861	0.70017	850	0.35610	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2180.98	182	chr16	4192332	.	G	T	2180.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.319;DP=943;ExcessHet=0.0000;FS=0.546;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=-1.900e-01;SOR=0.754	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1116	20	0	1	0
chr16	4364800	4364800	G	A	exonic	CORO7;CORO7-PAM16	.	nonsynonymous SNV	CORO7:NM_001201473:exon10:c.C764T:p.P255L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.279	N	1.000	D	3.245	M	1.32	T	-0.672	T	0.376	T	0.836	5.161	32	5.31	2.481	9.413	18.573	0.478	0.1117313811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.278727	0.03819	N	1.604400	1	0.81001	D	3.665	0.94315	H	1.32	0.35219	T	-9.52	0.98467	D	0.842	0.92200	-0.6720	0.61738	T	0.376	0.73416	T	10	0.95622563	0.94987	D	0.111731	0.78962	D	0.478	0.76946	0.829	0.93915	0.715788697665	0.71329	0.7381200659588484	0.73757	0.490814274517	0.47791	0.594163775444	0.52081	T	0.15677	0.49908	T	0.231887	0.76899	D	0.0953125	0.76598	D	0.999720990657806	0.98678	D	.	.	.	0.12260932	0.28809	0.14834444	0.35071	0.12260932	0.28808	0.14834444	0.35070	-10.464	0.76640	D	.	.	0.331	0.59319	B	.;.;.;.;.	.;.;.;.;.	4.179717	0.62914	24.5	0.99913068335945643	0.98167	0.99557	0.97415	D	AEFBI	0.963580	0.98551	D	0.897357783830888	0.91629	10.98143	0.827238490703855	0.91618	10.97983	0.999999999985666	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	9.544000	0.97191	11.683000	0.94248	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.720000	0.34772	0.0:0.0:1.0:0.0	18.573	0.91097	803	0.44167	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1958.98	74	chr16	4364800	.	G	A	1958.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.96;DP=1721;ExcessHet=0.0000;FS=2.147;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.99;ReadPosRankSum=-1.101e+00;SOR=0.518	GT:AD:DP:GQ:PL	0/0:110,0:110:99:0,120,1800	20	0	1	0
chr16	4461925	4461925	G	A	exonic	NMRAL1	.	nonsynonymous SNV	NMRAL1:NM_001305141:exon6:c.C755T:p.P252L	.	.	413	1094	15	0	0	15	0.0068089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.165	B	0.058	B	0.000	D	0.000	P	2.71	M	1.49	T	-1.087	T	0.000	T	0.703	2.840	15.46	4.72	1.367	1.642	13.089	0.152	.	0.0005	0.0349441	0.0126	0.0009	0.0008	0.1616	0.0015	0.0005	0.0144	0.0030	0.0117657	1819	154602	rs3747582	0.0062	0.0062	0.0063	0.0061	0.1984	0.0061	0.0061	0.1947	0.1932	0.0003	0.0002	0.0008	0.1984	0.0016	0.0035	0.0003	0.0077	0.0034	0.0067	0.0068	0.0058	0.0076	0.1622	0.0063	0.0062	0.1531	0.1494	0.0007	0	0.0026	0.0012	0.1622	0.0014	0	0.0005	0.0090	0.0083	0.131	0.26629	T	0.187	0.43913	T	0.165	0.28508	B	0.058	0.26451	B	0.000020	0.62929	D	0.074949	1.04741e-05	0.54805	P	2.97	0.85306	M	1.49	0.31470	T	-8.08	0.96650	D	0.095	0.07949	-1.0868	0.06084	T	0.000	0.00039	T	9	0.0018475354	0.00025	T	.	.	.	0.152	0.39956	.	.	.	.	0.639394101474842	0.63874	0.0715321236469	0.08007	0.35464450717	0.18603	T	0.214388	0.58713	T	-0.406855	0.02086	T	-0.213376	0.53372	T	0.112764709232975	0.13708	T	0.777622	0.41734	T	0.67576015	0.76741	0.32064545	0.58018	0.67576015	0.76742	0.32064545	0.58017	-8.923	0.67200	D	.	.	0.154	0.35393	B	.;.;.;.;.;.	.;.;.;.;.;.	2.875611	0.38040	20.6	0.9972835410268226	0.82549	0.90127	0.51063	D	AEFDBHCI	0.290177	0.40163	N	-0.0567985129338145	0.39299	2.315253	0.0111904636168977	0.40232	2.397884	0.999999999998401	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	5.7	4.72	0.59248	1.700000	0.37434	3.296000	0.37344	0.676000	0.76740	0.974000	0.34632	1.000000	0.68203	0.202000	0.21954	0.0:0.0:0.8342:0.1658	13.089	0.58570	515	0.74782	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1500.98	35	chr16	4461925	.	G	A	1500.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.410e-01;DP=834;ExcessHet=0.0000;FS=0.775;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.43;ReadPosRankSum=-2.440e-01;SOR=0.824	GT:AD:DP:GQ:PL	0/1:43,61:104:99:1515,0,1077	20	0	1	0
chr16	4506948	4506948	G	A	exonic	HMOX2	.	nonsynonymous SNV	HMOX2:NM_001286271:exon2:c.G53A:p.R18Q	.	.	420	1101	1	0	0	1	0.000453926	.	.	2455414	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.66	T	0.138	B	0.033	B	0.007	N	0.997	D	0.8	N	1.97	T	-1.011	T	0.027	T	0.135	2.089	12.94	-0.033	-0.123	0.588	9.693	0.017	0.0069891893718	.	.	2.471e-05	0	0	0	0	2.997e-05	0	6.056e-05	1.94e-05	3	154602	rs150902900	1.573e-05	1.573e-05	1.225e-05	1.925e-05	8.961e-05	1.048e-05	8.75e-06	2.375e-05	1.258e-05	8.961e-05	0	0	0	0	0	1.529e-05	0	3.478e-05	2.63e-05	2.627e-05	5.14e-05	0	4.828e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	2.94e-05	0	0	0.671	0.04548	T	0.421	0.19845	T	0.138	0.27452	B	0.033	0.22329	B	0.006916	0.31720	N	0.384614	0.996897	0.43488	D	0.785	0.19527	N	1.97	0.22067	T	-0.22	0.10480	N	0.076	0.05287	-1.0109	0.26635	T	0.027	0.11485	T	10	0.113119304	0.21241	T	0.006989	0.18513	T	0.017	0.02790	0.431	0.48007	0.156986980423	0.15292	0.41470617859219433	0.41386	0.138923697287	0.15665	0.254099100828	0.04212	T	0.161155	0.50530	T	-0.457033	0.01025	T	-0.614838	0.11596	T	0.0418931984991608	0.04035	T	0.90041	0.65400	D	0.109844655	0.25967	0.09403748	0.22242	0.109844655	0.25966	0.09403748	0.22241	-5.215	0.39094	T	.	.	0.106	0.19839	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.330711	0.29859	18.26	0.95846982066487951	0.27981	0.69309	0.34137	D	AEFBCI	0.364651	0.45311	N	-0.739718338842561	0.14913	0.7470584	-0.603618262624662	0.19400	1.040658	0.999461080686817	0.39843	0.722319	0.85440	0	0.698795	0.70079	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	5.54	-0.0325	0.13232	0.886000	0.27878	4.588000	0.43946	-0.244000	0.07312	0.997000	0.40164	1.000000	0.68203	0.945000	0.48827	0.3673:0.0:0.6327:0.0	9.693	0.39304	506	0.75555	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1676.98	33	chr16	4506948	.	G	A	1676.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.36;DP=837;ExcessHet=0.0000;FS=3.054;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=-4.930e-01;SOR=0.480	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1421	20	0	1	0
chr16	4509433	4509433	G	C	exonic	HMOX2	.	nonsynonymous SNV	HMOX2:NM_001286271:exon4:c.G631C:p.A211P	.	.	423	1087	11	1	0	13	0.00594422	.	.	2197304	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.938	P	0.142	B	0.002	N	0.797	N	1.61	L	1.93	T	-0.999	T	0.040	T	0.625	3.440	17.64	4.36	1.482	2.800	6.818	0.076	0.00928104646333	0.0006	0.000998403	0.0007	0.0003	0.0003	0	0	0.0011	0.0011	0.0005	0.000705	109	154602	rs149714752	0.0007	0.0007	0.0006	0.0008	0.0069	0.0007	0.0007	0.0052	0.0046	0.0007	0.0006	0.0070	0	0.0001	0.0069	0.0006	0.0012	0.0007	0.0006	0.0006	0.0006	0.0006	0.0008	0.0005	0.0005	0.0005	0.0004	0.0001	0	0.0007	0.0058	0	0	0.0068	0.0006	0.0014	0.0008	0.127	0.27080	T	0.069	0.46182	T	0.938	0.52538	P	0.142	0.33681	B	0.001916	0.37691	N	0.311936	0.797064	0.29159	N	2.35	0.67516	M	1.93	0.22881	T	-1.27	0.31981	N	0.546	0.57263	-0.9992	0.30143	T	0.040	0.17404	T	10	0.008799285	0.00199	T	0.009281	0.24366	T	0.076	0.22200	.	.	0.384252928164	0.38032	0.7363986177957625	0.73584	0.201851073851	0.22596	0.376824975014	0.21805	T	0.395825	0.75461	T	-0.322666	0.06682	T	-0.310378	0.43618	T	0.0144720432120896	0.00294	T	0.811219	0.46271	T	0.4498263	0.64030	0.3063525	0.56660	0.4498263	0.64030	0.3063525	0.56659	-3.845	0.23038	T	.	.	0.653	0.71063	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.506315	0.49079	22.7	0.99684453226970837	0.79507	0.87810	0.47478	D	AEFDBCI	0.912970	0.87431	D	0.181232075835268	0.50298	3.22118	0.220786183200403	0.51001	3.286616	0.999995448483458	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.31	4.36	0.51643	2.891000	0.48316	5.815000	0.50038	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.723000	0.34869	0.2558:0.0:0.7442:0.0	6.818	0.23027	520	0.74355	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2713.11	37	chr16	4509433	.	G	C	2713.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.626;DP=923;ExcessHet=0.1072;FS=7.407;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=2.22;SOR=0.367	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1366	19	0	2	0
chr16	4580090	4580090	G	A	exonic	C16orf96	.	nonsynonymous SNV	C16orf96:NM_001145011:exon7:c.G2317A:p.V773M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.99	D	0.891	P	.	.	1.000	N	0.695	N	.	.	-1.026	T	0.087	T	0.131	1.075	9.390	-2.01	-0.105	0.648	3.443	0.110	0.0177319553493	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1312248447	8.623e-06	1.231e-05	1.276e-05	4.373e-06	2.87e-05	4.6e-06	3.63e-06	5.49e-06	4.01e-06	0	2.87e-05	0	0	0	0	1.023e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.005	0.72224	D	0.99	0.63424	D	0.891	0.63213	P	.	.	.	.	1	0.08975	N	1.39	0.34934	L	.	.	.	-2.13	0.48354	N	0.241	0.27197	-1.0257	0.21853	T	0.087	0.33857	T	8	0.24020585	0.41175	T	0.017732	0.39542	T	0.110	0.31079	0.445	0.50302	0.0884992946249	0.08302	0.05358933337534417	0.05300	.	.	.	.	.	0.007919	0.07293	T	-0.183166	0.23265	T	-0.500882	0.22255	T	0.402477952723891	0.29035	T	0.569643	0.20265	T	0.12915812	0.30174	0.19129515	0.42580	0.12915812	0.30174	0.19129515	0.42579	-4.732	0.33789	T	.	.	0.214	0.44345	B	.	.	2.252787	0.28777	17.91	0.99509103460907877	0.68499	0.08783	0.14661	N	AEFDBCI	0.038940	0.05584	N	-0.448151957618866	0.23802	1.280839	-0.669254449793727	0.17731	0.9441196	0.360255180288532	0.19770	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.09	-2.01	0.07003	0.779000	0.26407	1.456000	0.26643	0.676000	0.76740	0.622000	0.27931	0.875000	0.27637	0.029000	0.12982	0.4328:0.0:0.3871:0.1801	3.443	0.07041	527	0.73864	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	731.98	34	chr16	4580090	.	G	A	731.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.263;DP=746;ExcessHet=0.0000;FS=3.855;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.81;ReadPosRankSum=-5.180e-01;SOR=0.699	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1082	20	0	1	0
chr16	4681761	4681761	G	C	exonic	MGRN1	.	nonsynonymous SNV	MGRN1:NM_001142289:exon12:c.G1277C:p.S426T	.	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.609	P	0.341	B	0.000	D	0.998	D	0.805	L	1.36	T	-1.105	T	0.053	T	0.035	-0.056	3.728	-0.291	0.104	1.292	6.381	0.042	0.020926345543	.	.	9.983e-05	0	9.101e-05	0	0	1.659e-05	0	0.0006	7.12e-05	11	154602	rs769483930	5.208e-05	5.199e-05	3.818e-05	6.612e-05	0.0007	4.265e-05	3.894e-05	0.0003	0.0003	0	8.958e-05	0	0	0	0.0007	1.35e-05	0.0002	0.0004	5.911e-05	5.909e-05	3.852e-05	8.066e-05	0.0004	3.076e-05	2.209e-05	0.0001	8.284e-05	0	0	0.0003	0	0	0	0	2.939e-05	0	0.0004	0.14	0.25664	T	0.366	0.20164	T	0.454	0.39586	P	0.197	0.42432	B	0.000414	0.44736	D	0.322570	0.998326	0.44771	D	1.7	0.43825	L	1.3	0.35590	T	-1.0	0.26422	N	0.261	0.33140	-1.1045	0.03588	T	0.053	0.22501	T	10	0.05583927	0.06166	T	0.020926	0.43616	T	0.042	0.11227	0.132	0.03662	0.173771789658	0.16945	0.35169590151705293	0.35083	0.0347031967724	0.03653	0.367655932903	0.20495	T	0.181141	0.53272	T	-0.506099	0.00528	T	-0.642786	0.09468	T	0.0479850810953752	0.05141	T	0.849315	0.53201	T	0.09086526	0.21275	0.067303315	0.13906	0.09086526	0.21274	0.067303315	0.13906	-3.823	0.22122	T	.	.	0.071	0.20780	B	.;.;.;.;.;.	.;.;.;.;.;.	1.372379	0.17825	13.39	0.62041207141825672	0.06861	0.85513	0.44653	D	AEFDBCI	0.452586	0.50608	N	-0.60187077948584	0.18888	0.9842668	-0.600923122901011	0.19469	1.044708	0.999921168459923	0.46280	0.67177	0.52595	0	0.697927	0.68747	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	5.33	-0.291	0.12207	1.294000	0.32971	1.843000	0.29202	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.062000	0.16114	0.2583:0.194:0.5478:0.0	6.381	0.20740	702	0.57624	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	865.98	46	chr16	4681761	.	G	C	865.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.530e-01;DP=779;ExcessHet=0.0000;FS=2.293;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.53;ReadPosRankSum=0.692;SOR=1.077	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1398	20	0	1	0
chr16	4883820	4883820	A	C	exonic	PPL	.	nonsynonymous SNV	PPL:NM_002705:exon22:c.T4835G:p.L1612R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.998	D	0.914	D	0.001	N	0.996	D	1.525	L	0.51	T	-0.580	T	0.264	T	0.741	3.248	16.89	5.71	2.188	8.923	15.988	0.219	0.0563521679867	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1467907731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.574e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.063	0.36709	T	0.096	0.39340	T	0.998	0.73220	D	0.914	0.64984	D	0.001497	0.38855	N	0.177480	0.996348	0.43151	D	2.535	0.73915	M	0.51	0.55439	T	-1.58	0.38151	N	0.496	0.58968	-0.5803	0.65605	T	0.264	0.63501	T	10	0.4287873	0.57352	T	0.056352	0.66574	D	0.219	0.51417	0.349	0.34598	0.865760524612	0.86446	0.6783154929122827	0.67770	0.116783608843	0.13174	0.389168202877	0.23553	T	0.35633	0.72320	T	0.129822	0.67344	D	-0.0512962	0.66933	D	0.908969223499298	0.56371	D	0.858514	0.54939	D	0.33461842	0.55847	0.3525741	0.60833	0.33461842	0.55847	0.3525741	0.60832	-5.307	0.40012	T	.	.	0.135	0.33435	B	.;.;.	.;.;.	4.124946	0.61682	24.4	0.99755464012938511	0.84615	0.97696	0.76478	D	AEFDGBCI	0.888280	0.82126	D	0.715678574218661	0.80659	7.343822	0.725803024820623	0.84338	8.264214	0.999999907078353	0.74766	0.67177	0.52595	0	0.379588	0.06130	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	5.71	5.71	0.89031	8.911000	0.92272	11.312000	0.92460	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.707000	0.34357	1.0:0.0:0.0:0.0	15.988	0.79969	474	0.77851	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1641.98	38	chr16	4883820	.	A	C	1641.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.700e-01;DP=876;ExcessHet=0.0000;FS=8.237;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.95;ReadPosRankSum=-1.137e+00;SOR=1.294	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1266	20	0	1	0
chr16	4903923	4903923	G	T	exonic	PPL	.	nonsynonymous SNV	PPL:NM_002705:exon3:c.C280A:p.H94N,	.	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.842	P	0.321	B	0.000	D	0.998	D	1.79	L	-0.31	T	-0.630	T	0.265	T	0.183	4.513	24.3	5.28	2.454	9.344	18.906	0.140	0.0919524276787	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1276560823	2.736e-06	2.736e-06	0	5.501e-06	3.478e-05	6.4e-07	4.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	1.656e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.099	0.38891	T	0.842	0.46562	P	0.321	0.41760	B	0.000143	0.49130	D	0.183709	0.997685	0.44098	D	1.79	0.46772	L	-0.31	0.68030	T	-1.13	0.29114	N	0.525	0.57263	-0.6303	0.63558	T	0.265	0.63588	T	10	0.39547637	0.55194	T	0.091952	0.75801	D	0.140	0.37593	0.267	0.21418	0.858951703902	0.85758	0.21595723851428936	0.21511	0.026477229634	0.02702	0.623542070389	0.56230	T	0.155797	0.49769	T	-0.115221	0.33908	T	-0.306429	0.44042	T	0.790841102600098	0.45745	D	0.841416	0.51702	T	0.20279698	0.42337	0.1932037	0.42876	0.20279698	0.42337	0.1932037	0.42875	-1.382	0.01539	T	.	.	0.143	0.32756	B	.;.;.	.;.;.	4.086013	0.60819	24.3	0.9901189593430143	0.50377	0.99608	0.97942	D	AEFBI	0.948083	0.95933	D	0.487868615871688	0.66380	4.94266	0.547514082271286	0.71224	5.622379	0.999999981427516	0.74766	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.28	5.28	0.74118	9.477000	0.96864	11.770000	0.95838	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.908000	0.44358	0.0:0.0:1.0:0.0	18.906	0.92434	453	0.79178	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1721.98	40	chr16	4903923	.	G	T	1721.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.075e+00;DP=833;ExcessHet=0.0000;FS=2.346;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.59;ReadPosRankSum=2.36;SOR=0.501	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1105	20	0	1	0
chr16	4988245	4988245	A	T	exonic	SEC14L5	.	nonsynonymous SNV	SEC14L5:NM_014692:exon4:c.A310T:p.N104Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.977	D	0.797	P	0.001	N	0.999	D	2.045	M	2.18	T	-0.989	T	0.103	T	0.178	4.079	21.0	4.34	1.829	8.506	13.672	0.265	0.0470700725582	7.8e-05	0.000199681	3.373e-05	0.0004	0	0	0	0	0	0	3.23e-05	5	154602	rs184592261	9.579e-06	9.577e-06	2.723e-06	1.651e-05	0.0004	5.56e-06	4.35e-06	0.0002	0.0002	0.0004	0	0	0	0	0.0002	8.995e-07	0	0	8.537e-05	8.53e-05	7.71e-05	9.401e-05	0.0003	4.954e-05	3.96e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.002	0.79402	D	0.977	0.58535	D	0.797	0.58061	P	0.001285	0.39521	N	0.218881	0.999257	0.46462	D	1.87	0.49600	L	2.18	0.18875	T	-3.65	0.69950	D	0.463	0.49965	-0.9894	0.32753	T	0.103	0.37869	T	10	0.2995624	0.47508	T	0.04707	0.62750	D	0.265	0.57870	.	.	0.267299060538	0.26338	0.34894992970300037	0.34808	0.168298605729	0.18978	0.39518237114	0.24397	T	0.216176	0.57826	T	-0.383455	0.02962	T	-0.458582	0.26755	T	0.489574931434845	0.32249	T	0.89481	0.87125	D	0.46690908	0.65100	0.3684705	0.62136	0.46690908	0.65101	0.3684705	0.62136	-11.839	0.84058	D	.	.	0.180	0.47404	B	.;.	.;.	4.337232	0.66507	25.0	0.99399428175220961	0.62748	0.96842	0.71235	D	AEFDGBHCI	0.916927	0.88381	D	0.529507194804302	0.68843	5.273318	0.464120134706125	0.65629	4.84793	0.999999999999989	0.74766	0.652421	0.48094	0	0.563428	0.19063	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	4.34	4.34	0.51267	8.776000	0.91415	9.003000	0.78534	-0.177000	0.10537	1.000000	0.71638	1.000000	0.68203	0.071000	0.16709	1.0:0.0:0.0:0.0	13.672	0.61909	804	0.43891	PRELI/MSF1 domain|PRELI/MSF1 domain;PRELI/MSF1 domain|PRELI/MSF1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1609.98	38	chr16	4988245	.	A	T	1609.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=852;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.25;ReadPosRankSum=-4.780e-01;SOR=0.646	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1216	20	0	1	0
chr16	5056092	5056092	C	T	exonic	C16orf89	.	nonsynonymous SNV	C16orf89:NM_001098514:exon5:c.G724A:p.G242R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.952	P	0.207	B	0.103	N	1.000	N	2.395	M	1.62	T	-0.978	T	0.073	T	0.327	1.197	9.863	3.59	0.648	0.824	8.474	0.086	0.015771741154	.	.	8.312e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs762467164	1.107e-05	1.368e-05	8.214e-06	1.399e-05	0.0003	6.55e-06	5.3e-06	7.316e-05	5.183e-05	3.011e-05	0.0002	0	0	1.877e-05	0.0003	2.732e-06	1.68e-05	1.164e-05	2.635e-05	2.628e-05	5.147e-05	0	4.84e-05	8.16e-06	5.15e-06	8.02e-06	3e-06	4.84e-05	0	0	0	0	0	0	2.942e-05	0	0	0.085	0.34095	T	0.0	0.92824	D	0.952	0.54136	P	0.207	0.37187	B	0.103236	0.19757	N	0.508539	0.999996	0.08975	N	1.42	0.35681	L	1.62	0.28189	T	-1.91	0.67359	N	0.536	0.56403	-0.9783	0.35390	T	0.073	0.29707	T	10	0.17174757	0.31910	T	0.015772	0.36685	T	0.086	0.25016	0.572	0.69564	0.168933306366	0.16529	0.49247198138442577	0.49168	0.0166539451348	0.01611	.	.	.	0.108895	0.42231	T	-0.353127	0.04534	T	-0.489973	0.23395	T	0.0508599542081356	0.05651	T	0.721228	0.33447	T	0.082004786	0.18871	0.123254605	0.29723	0.082004786	0.18870	0.123254605	0.29722	-3.027	0.26534	T	.	.	0.183	0.45347	B	.;.;.	.;.;.	1.533671	0.19678	14.38	0.98234700063615343	0.39423	0.11048	0.16372	N	AEFBCI	0.083730	0.16964	N	-0.271563095568715	0.30250	1.685019	-0.402897007390751	0.24911	1.366893	0.00245837160389125	0.09445	0.656854	0.48797	0	0.615948	0.52940	0	0.67347	0.61138	0	0.620846	0.47308	0	.	.	5.72	3.59	0.40253	0.781000	0.26435	0.014000	0.13486	0.549000	0.26987	0.053000	0.21524	0.000000	0.08366	0.006000	0.07323	0.0:0.8072:0.0:0.1928	8.474	0.32162	856	0.34373	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1288.98	44	chr16	5056092	.	C	T	1288.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.46;DP=1135;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.41;ReadPosRankSum=-2.310e-01;SOR=0.613	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,99,1621	20	0	1	0
chr16	5084778	5084778	C	A	exonic	ALG1	.	nonsynonymous SNV	ALG1:NM_001330504:exon13:c.C959A:p.A320E	Congenital disorder of glycosylation, type Ik, Autosomal recessive	.	207	1304	10	1	0	12	0.00458015	.	.	1038442	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.006	B	0.005	B	0.844	N	1.000	N	0.63	N	-0.87	T	-0.970	T	0.176	T	0.205	-1.975	0.007	0.271	0.186	0.514	6.990	0.051	0.0392513883211	.	.	.	.	.	.	.	.	.	.	.	.	.	rs370439294	0	2.736e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	7.268e-05	0.0006	6.459e-05	8.115e-05	0.0002	3.993e-05	3.143e-05	9.657e-05	7.029e-05	0.0002	0	0	0	0	0	0	2.944e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.005	0.11217	B	0.844000	0.09012	N	0.933266	1	0.08975	N	1.01	0.25309	L	-0.87	0.74583	T	0.75	0.02099	N	0.07	0.04913	-0.9704	0.37115	T	0.176	0.52021	T	10	0.050075233	0.04687	T	0.039251	0.58699	D	0.051	0.14325	0.398	0.42590	0.569705540864	0.56636	0.3334758727207182	0.33260	1.36290245596	0.84381	0.335656493902	0.15787	T	0.037257	0.24409	T	-0.13319	0.30981	T	-0.429094	0.30037	T	0.0221786505885773	0.00930	T	0.289271	0.05243	T	0.038093913	0.05009	0.079438284	0.17883	0.038093913	0.05009	0.079438284	0.17883	-4.712	0.35509	T	0.0570100174691765	0.01359	0.106	0.19800	B	.;.;.	.;.;.	0.289681	0.06659	3.161	0.79965488561863474	0.12983	0.05878	0.11826	N	AEFCI	0.063648	0.12314	N	-1.25572321595909	0.04225	0.1902526	-1.21297390761187	0.05701	0.2723729	1.339514752108E-5	0.02871	0.706548	0.73137	0	0.702456	0.74545	0	0.26897	0.05253	2	0.714379	0.83352	0	.	.	5.05	0.271	0.14894	0.658000	0.24662	0.277000	0.16723	-0.849000	0.02733	0.187000	0.24151	0.001000	0.17328	0.096000	0.18090	0.2908:0.5493:0.0:0.1599	6.990	0.23933	878	0.29785	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	58.11	72	chr16	5084778	.	C	A	58.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.554e+00;DP=912;ExcessHet=0.1072;FS=0.816;InbreedingCoeff=-0.0497;MLEAC=2;MLEAF=0.048;MQ=55.98;MQRankSum=-5.364e+00;QD=0.40;ReadPosRankSum=-1.561e+00;SOR=0.815	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,105,1575	19	0	2	0
chr16	5089226	5089226	G	A	exonic	EEF2KMT	.	nonsynonymous SNV	EEF2KMT:NM_001289029:exon5:c.C590T:p.S197L	.	.	400	1120	2	0	0	2	0.000892061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.997	D	0.934	D	0.001	U	0.956	N	1.465	L	2.24	T	-1.076	T	0.068	T	0.492	2.896	15.65	4.05	2.256	4.913	13.436	0.218	0.0214554435698	.	0.000399361	0.0001	0	0	0	0	0.0001	0.0012	0.0003	9.7e-05	15	154602	rs556531174	8.729e-05	8.756e-05	7.524e-05	9.945e-05	0.0005	7.455e-05	7.002e-05	0.0002	0.0002	0	8.946e-05	0	0	0	0.0005	7.465e-05	0.0002	0.0003	5.251e-05	5.249e-05	1.284e-05	9.395e-05	0.0004	2.555e-05	1.828e-05	6.825e-05	2.856e-05	0	0	0	0	0.0004	0	0	5.879e-05	0.0005	0.0002	0.139	0.27544	T	0.064	0.49120	T	0.997	0.70673	D	0.934	0.66904	D	0.000576	0.43250	U	0.202236	0.955907	0.26317	N	.	.	.	2.24	0.17923	T	-3.72	0.70793	D	0.535	0.56317	-1.0760	0.08144	T	0.068	0.28047	T	10	0.4194938	0.56767	T	0.021455	0.44231	T	0.218	0.51265	.	.	0.110078149338	0.10416	0.6081712829148036	0.60749	0.044020040872	0.04739	0.536679267883	0.43976	T	0.033918	0.23112	T	-0.119838	0.33151	T	-0.409915	0.32235	T	0.180194169639814	0.19247	T	0.759724	0.39491	T	0.3316721	0.55608	0.3650646	0.61862	0.3316721	0.55608	0.3650646	0.61862	-8.952	0.67387	D	.	.	0.142	0.40131	B	.;.;.	.;.;.	4.397090	0.67907	25.2	0.99882048826993919	0.95813	0.66460	0.33086	D	AEFDBCI	0.459648	0.51017	N	0.199320258355378	0.51166	3.300123	0.159446751294821	0.47645	2.991595	0.00995112631403229	0.11941	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.05	4.05	0.46415	4.348000	0.59158	9.754000	0.81484	0.674000	0.70861	0.999000	0.42656	1.000000	0.68203	0.045000	0.14751	0.0:0.0:1.0:0.0	13.436	0.60532	884	0.28482	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	403.34	33	chr16	5089226	.	G	A	403.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.26;DP=646;ExcessHet=0.0000;FS=1.510;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=14.94;ReadPosRankSum=0.659;SOR=1.061	GT:AD:DP:GQ:PL	0/1:12,15:27:99:417,0,296	19	0	1	1
chr16	8570005	8570005	G	A	exonic	TMEM114	.	nonsynonymous SNV	TMEM114:NM_001290095:exon3:c.C302T:p.T101I	.	.	0	1451	65	6	0	77	0.0258476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.995	D	0.946	D	.	.	.	.	2.28	M	.	.	-0.148	T	0.344	T	0.217	2.821	15.40	4.79	2.214	4.712	16.824	0.202	.	0.0046	0.00319489	0.0074	0.0008	0	0	0	0.0076	0	0.0094	0.0016753	259	154602	rs141472774	0.0055	0.0053	0.0055	0.0056	0.0173	0.0054	0.0054	0.0145	0.0135	0.0010	0.0021	0.0107	0	0.0025	0.0173	0.0057	0.0064	0.0078	0.0040	0.0040	0.0042	0.0038	0.0070	0.0037	0.0036	0.0055	0.0053	0.0011	0	0.0032	0.0092	0	0.0018	0.0272	0.0060	0.0066	0.0070	.	.	.	0.045	0.49390	D	0.995	0.67487	D	0.946	0.68276	D	.	.	.	.	.	.	.	2.48	0.72069	M	.	.	.	.	.	.	0.679	0.71232	-0.1479	0.78967	T	0.344	0.70923	T	7	0.00557217	0.00123	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.6843745277395868	0.68376	.	.	0.504805743694	0.39498	T	0.032189	0.22378	T	-0.428688	0.01509	T	-0.382725	0.35404	T	0.0273435216915867	0.01593	T	0.880312	0.59828	D	0.13088708	0.30526	0.33624232	0.59429	0.13088708	0.30526	0.33624232	0.59428	-9.664	0.71876	D	.	.	0.557	0.67085	A	.;.	.;.	5.037345	0.83818	28.1	0.99843652617835343	0.92403	0.89397	0.49837	D	AEFDBI	0.651891	0.62548	D	0.588833658082171	0.72476	5.81192	0.514427979412752	0.68961	5.292708	0.999999802251422	0.74766	0.50284	0.20314	0	0.547309	0.14657	0	0.338622	0.05889	2	0.530356	0.10902	0	.	.	4.79	4.79	0.60909	4.990000	0.63609	9.440000	0.80826	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.413000	0.27073	0.0:0.0:1.0:0.0	16.824	0.85791	981	0.03995	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	360.98	34	chr16	8570005	.	G	A	360.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.220e-01;DP=720;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=-3.950e-01;SOR=0.754	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1354	20	0	1	0
chr16	8768230	8768230	T	C	exonic	ABAT	.	nonsynonymous SNV	ABAT:NM_000663:exon10:c.T641C:p.M214T	GABA-transaminase deficiency, Autosomal recessive	.	1	1518	3	0	0	3	0.000987167	.	.	267762	ABAT-related_disorder|not_provided|not_specified|Gamma-aminobutyric_acid_transaminase_deficiency	.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163,Orphanet:2066	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.33	T	0.0	B	0.004	B	0.000	D	1.000	D	-0.505	N	-1.93	D	-0.628	T	0.303	T	0.554	2.127	13.07	5.61	2.147	5.819	15.039	0.346	0.0339214080291	0.0025	0.000798722	0.0025	0.0002	0.0012	0	0.0036	0.0033	0.0011	0.0026	0.0024126	373	154602	rs149271402	0.0028	0.0028	0.0027	0.0028	0.0030	0.0027	0.0027	0.0029	0.0029	0.0002	0.0010	0.0024	0	0.0034	0	0.0030	0.0025	0.0029	0.0022	0.0022	0.0022	0.0022	0.0040	0.0020	0.0019	0.0036	0.0035	0.0003	0	0.0007	0.0017	0	0.0020	0	0.0040	0.0014	0.0017	0.294	0.17643	T	0.351	0.17425	T	0.0	0.02946	B	0.004	0.10090	B	0.000000	0.84330	D	0.035857	1	0.81001	D	-0.505	0.02602	N	-1.93	0.84842	D	-0.26	0.11185	N	0.671	0.67995	-0.6285	0.63635	T	0.303	0.67446	T	10	0.018425345	0.00401	T	0.033921	0.55318	D	0.346	0.66769	.	.	0.821998047426	0.82032	0.7791862409298115	0.77869	0.357549174264	0.37467	0.79688179493	0.81488	T	0.194128	0.54981	T	-0.258099	0.13123	T	-0.140767	0.60051	T	0.0205467228517916	0.00754	T	0.907909	0.67446	D	0.2595522	0.49009	0.24269977	0.49696	0.23683263	0.46539	0.23363076	0.48556	-4.144	0.25936	T	0.16937827270933029	0.21234	0.146	0.34361	B	.;.;.;.;.	.;.;.;.;.	2.823638	0.37201	20.4	0.9406614430045861	0.24204	0.96866	0.71365	D	AEFDBI	0.834723	0.75274	D	-0.216618132001535	0.32452	1.830297	0.0499134986049432	0.42067	2.538063	0.878253151285644	0.25562	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.61	5.61	0.85347	5.897000	0.69569	7.725000	0.67498	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:0.0:0.0:1.0	15.039	0.71441	970	0.06235	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	1171.98	33	chr16	8768230	.	T	C	1171.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.850e-01;DP=796;ExcessHet=0.0000;FS=0.819;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.17;ReadPosRankSum=1.06;SOR=0.867	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1331	20	0	1	0
chr16	8774969	8774969	G	A	exonic	ABAT	.	nonsynonymous SNV	ABAT:NM_000663:exon13:c.G1034A:p.G345D	GABA-transaminase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1338581	Gamma-aminobutyric_acid_transaminase_deficiency|not_specified	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163,Orphanet:2066|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.18	T	0.052	B	0.038	B	0.000	D	1.000	D	1.985	M	-2.53	D	0.027	D	0.645	D	0.948	3.359	17.32	5.79	2.746	9.709	19.029	0.566	0.0800464599702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.104e-06	4.104e-06	1.361e-06	6.875e-06	5.396e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.16038	T	0.39	0.15506	T	0.052	0.22494	B	0.038	0.23361	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.985	0.53793	M	-2.53	0.89430	D	0.13	0.05503	N	0.927	0.95256	0.027	0.82790	D	0.645	0.87610	D	10	0.8971139	0.89066	D	0.080046	0.73373	D	0.566	0.82289	0.779	0.90388	0.894028876271	0.89297	0.8730936378288995	0.87275	0.425041072685	0.42916	0.823260962963	0.85528	D	0.259111	0.63035	T	0.405232	0.90214	D	0.344311	0.90092	D	0.760258316993713	0.43866	D	0.950605	0.81197	D	0.33136523	0.55582	0.43088055	0.66724	0.33136523	0.55582	0.43088055	0.66724	-5.477	0.41653	T	0.16957505096887696	0.21270	0.121	0.33527	B	.;.;.;.;.	.;.;.;.;.	3.510922	0.49169	22.7	0.9948235823514574	0.66959	0.98880	0.88090	D	AEFDBI	0.964759	0.98695	D	0.301087765739924	0.56203	3.784844	0.474621702577392	0.66313	4.935867	0.999999999983677	0.74766	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.79	5.79	0.91751	9.964000	0.99056	7.296000	0.58072	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	19.029	0.92925	970	0.06235	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1230.98	34	chr16	8774969	.	G	A	1230.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.245e+00;DP=831;ExcessHet=0.0000;FS=9.874;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.96;ReadPosRankSum=-1.720e-01;SOR=1.397	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1349	20	0	1	0
chr16	9938544	9938544	G	A	exonic	GRIN2A	.	nonsynonymous SNV	GRIN2A:NM_001134407:exon3:c.C422T:p.T141M	Epilepsy, focal, with speech disorder and with or without mental retardation, Autosomal dominant	.	1	1518	2	0	1	3	0.000658328	.	.	203374	not_specified|GRIN2A-related_disorder|Landau-Kleffner_syndrome|Inborn_genetic_diseases|not_provided	MedGen:CN169374|.|MONDO:MONDO:0009509,MedGen:C0282512,OMIM:245570,Orphanet:1945,Orphanet:725,Orphanet:98818|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.016	B	0.017	B	0.001	N	1.000	D	-1.61	N	-1.6	D	-1.004	T	0.136	T	0.139	1.340	10.40	1.61	0.664	2.895	5.933	0.185	0.231731407444	0.0011	0.000599042	0.0011	0.0001	0.0007	0	0	0.0015	0	0.0012	0.0010737	166	154602	rs78631453	0.0016	0.0016	0.0015	0.0016	0.0018	0.0015	0.0015	0.0017	0.0017	0.0002	0.0006	0.0037	0	0.0003	0.0005	0.0018	0.0011	0.0012	0.0009	0.0009	0.0010	0.0009	0.0016	0.0008	0.0008	0.0013	0.0013	0.0002	0	0.0001	0.0040	0	0.0003	0	0.0016	0	0.0012	0.206	0.21066	T	0.289	0.31427	T	0.016	0.17332	B	0.01	0.14941	B	0.000831	0.41547	N	0.287086	1	0.81001	D	-1.04	0.01097	N	-1.6	0.82165	D	-0.87	0.23590	N	0.234	0.26354	-1.0037	0.28844	T	0.136	0.45126	T	9	0.008182764	0.00186	T	0.231731	0.88289	D	0.185	0.45933	.	.	0.642405806142	0.63945	0.605003862362036	0.60431	0.645072804293	0.57977	0.262629628181	0.05207	T	0.311047	0.68296	T	-0.423554	0.01624	T	-0.383604	0.35300	T	0.00499161585346308	0.00054	T	0.821218	0.52437	T	0.03151473	0.03006	0.045313235	0.06070	0.035295565	0.04125	0.042294063	0.05003	-4.741	0.33896	T	0.13974314826536385	0.15579	0.082	0.09578	B	.;.;.;.;.	.;.;.;.;.	2.228278	0.28446	17.80	0.86104735373430785	0.16316	0.76323	0.37423	D	AEFBI	0.163829	0.29015	N	-0.751373177058921	0.14596	0.7284039	-0.564894706465161	0.20410	1.099559	2.37517155559102E-5	0.03498	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.48	1.61	0.22752	2.869000	0.48142	4.422000	0.43319	-0.113000	0.14837	0.991000	0.37257	1.000000	0.68203	0.850000	0.40195	0.5279:0.0:0.4721:0.0	5.933	0.18388	868	0.31772	Receptor, ligand binding region;Receptor, ligand binding region;.;Receptor, ligand binding region;Receptor, ligand binding region	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.02381	686.98	33	chr16	9938544	.	G	A	686.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.977;DP=736;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.27;ReadPosRankSum=1.82;SOR=0.551	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1125	20	0	1	0
chr16	10472122	10472124	TGT	-	exonic	ATF7IP2	.	nonframeshift deletion	ATF7IP2:NM_024997:exon8:c.1365_1367del:p.V456del	.	.	499	979	36	8	0	52	0.0258706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0084	0.00499201	0.0096	0.0018	0.0069	0.0001	0.0023	0.0119	0.0113	0.0152	0.0022284	58	26028	rs566280429	0.0090	0.0093	0.0088	0.0093	0.0263	0.0089	0.0088	0.0228	0.0215	0.0018	0.0068	0.0396	5.147e-05	0.0015	0.0263	0.0087	0.0099	0.0146	0.0078	0.0078	0.0081	0.0075	0.0129	0.0074	0.0073	0.0103	0.0095	0.0025	0.0022	0.0081	0.0415	0.0002	0.0018	0.0034	0.0104	0.0099	0.0129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4093.64	33	chr16	10472121	.	ATGT	A	4093.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.243e+00;DP=881;ExcessHet=0.3300;FS=4.933;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=15.57;ReadPosRankSum=-4.880e-01;SOR=0.867	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1284	18	0	3	0
chr16	10694362	10694362	G	A	exonic	TEKT5	.	nonsynonymous SNV	TEKT5:NM_144674:exon1:c.C512T:p.T171M,	.	.	430	1079	11	2	0	15	0.0069029	.	.	2734526	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.349	B	0.263	B	0.036	N	1.000	N	1.845	L	4.22	T	-0.977	T	0.010	T	0.148	0.502	6.721	-1.29	-0.203	0.881	1.099	0.035	0.00279208785526	0.0008	0.000599042	0.0008	0.0002	0.0003	0.0001	0	0.0010	0.0011	0.0015	0.0007827	121	154602	rs141349037	0.0008	0.0008	0.0007	0.0008	0.0016	0.0007	0.0007	0.0010	0.0009	8.964e-05	0.0007	0	0.0006	1.877e-05	0.0016	0.0008	0.0008	0.0011	0.0008	0.0008	0.0008	0.0007	0.0016	0.0006	0.0006	0.0011	0.0009	0.0002	0	0.0016	0	0	0	0	0.0010	0.0038	0.0008	0.042	0.41637	D	0.069	0.43913	T	0.349	0.33622	B	0.263	0.39594	B	0.036122	0.24559	N	0.388807	1	0.08975	N	2.74	0.80084	M	4.22	0.02640	T	-1.75	0.41428	N	0.078	0.05287	-0.9766	0.35772	T	0.010	0.03492	T	10	0.0109657645	0.00242	T	0.002792	0.05810	T	0.035	0.08770	.	.	0.337621943819	0.33374	0.18941319776833226	0.18859	0.0299138510749	0.03083	0.257611125708	0.04610	T	0.01257	0.11022	T	-0.552739	0.00281	T	-0.612299	0.11798	T	0.0199506188084361	0.00696	T	0.169183	0.01581	T	0.025660696	0.01529	0.053191353	0.08911	0.025660696	0.01529	0.053191353	0.08911	-4.507	0.30980	T	.	.	0.068	0.02733	B	.	.	0.779708	0.11501	8.099	0.97653324833016442	0.35149	0.18171	0.20149	N	AEFBI	0.176547	0.30376	N	-0.819251776562701	0.12818	0.627329	-0.942232056313591	0.11103	0.5636497	0.112956817541917	0.16697	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.63	-1.29	0.08805	0.953000	0.28759	.	.	-0.127000	0.13314	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2102:0.1177:0.3104:0.3617	1.099	0.01576	970	0.06235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	777.98	34	chr16	10694362	.	G	A	777.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.57;DP=913;ExcessHet=0.0000;FS=0.959;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.60;ReadPosRankSum=-6.900e-01;SOR=0.877	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	20	0	1	0
chr16	10694437	10694437	G	A	exonic	TEKT5	.	nonsynonymous SNV	TEKT5:NM_144674:exon1:c.C437T:p.S146L,	.	.	429	1073	20	0	0	20	0.00923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.008	B	0.015	B	0.011	N	0.906	D	1.5	L	4.2	T	-0.952	T	0.007	T	0.434	2.025	12.73	3.42	0.735	1.893	5.269	0.063	0.00594128210265	.	0.00139776	0.0033	0.0010	0.0015	0.0001	0.0014	0.0048	0.0067	0.0021	0.0032988	510	154602	rs182259799	0.0039	0.0039	0.0038	0.0040	0.0083	0.0038	0.0038	0.0064	0.0058	0.0010	0.0021	0.0012	7.557e-05	0.0013	0.0083	0.0045	0.0034	0.0026	0.0036	0.0036	0.0039	0.0034	0.0056	0.0034	0.0033	0.0051	0.0049	0.0009	0.0352	0.0040	0.0026	0	0.0012	0	0.0056	0.0052	0.0025	0.053	0.38863	T	0.17	0.30436	T	0.008	0.14655	B	0.015	0.17295	B	0.010783	0.29783	N	0.237921	0.906132	0.36292	D	1.685	0.43254	L	4.2	0.02689	T	-3.66	0.70067	D	0.398	0.43899	-0.9522	0.40590	T	0.007	0.02244	T	10	0.0095191	0.00215	T	0.005941	0.15490	T	0.063	0.18251	.	.	0.343334270461	0.33943	0.19958566813189554	0.19875	0.0256709156631	0.02623	0.381252229214	0.22435	T	0.026231	0.19457	T	-0.489774	0.00652	T	-0.471176	0.25390	T	0.0260696188307023	0.01416	T	0.758124	0.38180	T	0.22575502	0.45242	0.36151037	0.61573	0.22575502	0.45242	0.36151037	0.61573	-7.003	0.54055	T	.	.	0.084	0.09723	B	.	.	2.015058	0.25606	16.82	0.99634708209895206	0.76264	0.48311	0.28178	N	AEFDBI	0.256816	0.37567	N	-0.379759716877153	0.26191	1.427545	-0.30052372556543	0.28083	1.562977	0.921079784247375	0.26658	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.4	3.42	0.38259	2.034000	0.40767	.	.	0.676000	0.76740	0.184000	0.24113	0.803000	0.26967	0.450000	0.27895	0.078:0.1439:0.6292:0.1489	5.269	0.14926	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1284.98	34	chr16	10694437	.	G	A	1284.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.34;DP=955;ExcessHet=0.0000;FS=2.355;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.36;ReadPosRankSum=-2.260e-01;SOR=0.954	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	20	0	1	0
chr16	10694693	10694693	C	T	exonic	TEKT5	.	nonsynonymous SNV	TEKT5:NM_144674:exon1:c.G181A:p.V61I,	.	.	430	1077	15	0	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.003	B	0.002	B	0.025	N	1.000	N	1.24	L	4.11	T	-0.945	T	0.005	T	0.111	0.140	4.751	-6.92	-1.348	-0.314	1.764	0.015	.	0.0070	0.00159744	0.0071	0.0011	0.0029	0	0.0089	0.0108	0.0056	0.0020	0.0067205	1039	154602	rs138126929	0.0090	0.0089	0.0091	0.0088	0.0105	0.0088	0.0088	0.0103	0.0102	0.0009	0.0032	0.0054	0	0.0084	0.0021	0.0105	0.0092	0.0015	0.0070	0.0070	0.0077	0.0062	0.0115	0.0066	0.0065	0.0108	0.0106	0.0017	0	0.0063	0.0066	0	0.0069	0	0.0115	0.0057	0.0010	0.308	0.14111	T	0.406	0.14725	T	0.003	0.11197	B	0.002	0.06944	B	0.024995	0.01622	N	2.299810	1	0.08975	N	0.46	0.12951	N	4.11	0.02916	T	-0.49	0.15578	N	0.073	0.04668	-0.9453	0.41764	T	0.005	0.01761	T	10	0.0038414598	0.00073	T	.	.	.	0.015	0.02232	.	.	0.117506650769	0.11410	0.20483342377689734	0.20400	0.0228577877693	0.02315	0.251101672649	0.03885	T	0.012405	0.10910	T	-0.696014	0.00038	T	-0.759579	0.03128	T	0.00117707586328804	0.00011	T	0.255274	0.03954	T	0.029504377	0.02456	0.023197655	0.00334	0.029504377	0.02455	0.023197655	0.00334	-3.69	0.19171	T	.	.	0.068	0.02861	B	.	.	-0.675178	0.01379	0.079	0.84443608144586346	0.15295	0.08805	0.14679	N	AEFBI	0.070489	0.13996	N	-1.38179900226416	0.02809	0.1245622	-1.49804783514101	0.02360	0.1084401	0.964251543770108	0.28747	0.553676	0.25195	0	0.588015	0.36545	0	0.608075	0.38828	0	0.564101	0.26826	0	.	.	4.99	-6.92	0.01485	-0.691000	0.05234	.	.	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.192:0.341:0.0944:0.3726	1.764	0.02816	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	771.98	34	chr16	10694693	.	C	T	771.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.798e+00;DP=816;ExcessHet=0.0000;FS=2.175;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=0.420;SOR=0.404	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	20	0	1	0
chr16	10915605	10915605	A	G	exonic	CIITA	.	nonsynonymous SNV	CIITA:NM_001286403:exon12:c.A1172G:p.K391R	Bare lymphocyte syndrome, type II, complementation group A, Autosomal recessive	.	1	1509	11	1	0	13	0.00428901	.	.	324009	MHC_class_II_deficiency	MONDO:MONDO:0008855,MedGen:C2931418,OMIM:PS209920,Orphanet:572	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.9	T	0.462	P	0.138	B	0.126	N	0.997	N	0.895	L	0.64	T	-0.867	T	0.155	T	0.141	1.264	10.12	-2.12	-0.643	0.348	5.908	0.034	.	0.0002	0.0127796	0.0074	0.0003	0.0008	0.0003	0	4.496e-05	0.0044	0.0532	0.0065329	1010	154602	rs140103491	0.0033	0.0033	0.0019	0.0047	0.0513	0.0032	0.0032	0.0501	0.0495	0.0003	6.708e-05	0	0.0002	1.873e-05	0.0016	0.0001	0.0035	0.0513	0.0021	0.0021	0.0011	0.0031	0.0628	0.0019	0.0018	0.0570	0.0547	0.0002	0	6.543e-05	0	0.0010	0	0	4.413e-05	0.0005	0.0628	0.163	0.31532	T	0.151	0.32355	T	.	.	.	.	.	.	0.125656	0.18834	N	0.482604	0.997326	0.22705	N	.	.	.	-0.78	0.73631	T	-1.04	0.27259	N	0.27	0.30800	-0.8670	0.50754	T	0.155	0.48568	T	10	0.0020398796	0.00029	T	.	.	.	0.034	0.08419	.	.	0.573511999043	0.57018	0.4218809977158536	0.42105	0.114923731027	0.12965	0.368581175804	0.20629	T	.	.	.	-0.482221	0.00718	T	-0.428209	0.30139	T	0.00630568679686327	0.00070	T	0.69993	0.30971	T	.	.	.	.	.	.	.	.	-2.522	0.05933	T	.	.	0.078	0.13174	B	.;.;.	.;.;.	1.527027	0.19596	14.34	0.9602820981138519	0.28494	0.58734	0.30722	D	AEFBCI	0.159411	0.28521	N	-1.16667540384039	0.05511	0.2514213	-1.1171993138108	0.07371	0.3583035	0.993198737492739	0.33121	0.722319	0.85440	0	0.698795	0.70079	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.6	-2.12	0.06766	0.258000	0.18156	.	.	-0.706000	0.03979	0.958000	0.33488	0.016000	0.20520	0.691000	0.33868	0.377:0.4529:0.1701:0.0	5.908	0.18252	964	0.07719	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	532.98	33	chr16	10915605	.	A	G	532.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.120e-01;DP=744;ExcessHet=0.0000;FS=2.356;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.25;ReadPosRankSum=1.76;SOR=1.085	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1209	20	0	1	0
chr16	11268922	11268922	T	C	exonic	TNP2	.	nonsynonymous SNV	TNP2:NM_005425:exon1:c.A341G:p.K114R,	.	.	422	1097	3	0	0	3	0.0013655	.	.	2350083	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.39	T	0.033	B	0.011	B	0.832	N	1.000	N	0.695	N	0.9	T	-1.034	T	0.054	T	0.126	-1.263	0.047	-2.85	-0.637	-0.997	2.956	0.004	0.00101244685426	0.0008	.	0.0006	0.0002	8.652e-05	0	0	0.0009	0.0011	0.0001	0.0004981	77	154602	rs201125198	0.0004	0.0004	0.0003	0.0004	0.0017	0.0003	0.0003	0.0009	0.0007	6.093e-05	0.0005	0.0059	0	1.875e-05	0.0017	0.0003	0.0007	0.0002	0.0004	0.0004	0.0004	0.0005	0.0008	0.0003	0.0003	0.0005	0.0004	4.812e-05	0.0011	0.0008	0.0052	0	9.418e-05	0	0.0004	0.0005	0.0004	0.381	0.11156	T	0.564	0.08991	T	0.033	0.20350	B	0.011	0.15521	B	0.832432	0.06949	N	1.106840	1	0.08975	N	0.695	0.17993	N	0.9	0.45248	T	-0.75	0.21003	N	0.165	0.17416	-1.0340	0.19173	T	0.054	0.22921	T	10	0.007618755	0.00173	T	0.001012	0.01096	T	0.004	0.00165	.	.	0.354183961838	0.35022	0.004358573720740442	0.00409	0.0612328423319	0.06815	0.336092561483	0.15852	T	0.084306	0.37248	T	-0.575151	0.00206	T	-0.707563	0.05422	T	0.0101940809538027	0.00138	T	0.328467	0.06836	T	0.029672502	0.02500	0.026989	0.00821	0.029672502	0.02500	0.026989	0.00820	-4.255	0.27541	T	.	.	0.083	0.09385	B	.;.	.;.	-0.156112	0.03322	0.580	0.62248890320673067	0.06914	0.00733	0.03071	N	AEBI	0.030098	0.02966	N	-1.37717583474359	0.02853	0.1265801	-1.45314025157751	0.02742	0.1266658	0.515252762600308	0.21051	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.69	-2.85	0.05392	-0.878000	0.04300	-0.601000	0.08270	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3465:0.3324:0.0:0.3211	2.956	0.05516	905	0.23532	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1715.98	41	chr16	11268922	.	T	C	1715.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.210e-01;DP=944;ExcessHet=0.0000;FS=0.657;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.41;ReadPosRankSum=-1.189e+00;SOR=0.761	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr16	11345532	11345532	C	A	exonic	RMI2	.	nonsynonymous SNV	RMI2:NM_152308:exon1:c.C61A:p.P21T,	.	.	446	1073	3	0	0	3	0.001396	.	.	2398080	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.848	P	0.507	P	0.000	D	1.000	D	2.045	M	.	.	-0.612	T	0.218	T	0.428	2.279	13.58	3.34	1.842	2.413	10.357	0.155	0.835998813161	.	.	0.0005	0	0	0	.	0	0	0.0008	3.23e-05	5	154602	rs749389763	4.492e-05	5.062e-05	3.732e-05	5.313e-05	0.0006	3.472e-05	3.138e-05	0.0001	0.0001	0	7.131e-05	0.0003	0	0	0.0006	2.748e-05	0.0002	0.0003	7.237e-05	7.219e-05	7.723e-05	6.729e-05	0.0002	3.976e-05	3.131e-05	5.291e-05	2.836e-05	2.409e-05	0	0.0002	0.0006	0	0	0	7.361e-05	0	0	0.0	0.91255	D	0.011	0.92824	D	0.848	0.46844	P	0.507	0.47859	P	0.000000	0.84330	D	0.000000	0.999701	0.81001	D	2.79	0.81396	M	.	.	.	-4.72	0.79998	D	0.613	0.62950	-0.6121	0.64316	T	0.218	0.58033	T	9	0.35976762	0.52637	T	0.835999	0.98730	D	0.155	0.40530	0.299	0.26522	0.304108284078	0.30024	0.4595649377674559	0.45874	1.08563880484	0.77273	0.917646884918	0.98139	D	0.187673	0.54135	T	0.40952	0.90454	D	0.350471	0.90336	D	0.98121052980423	0.73785	D	0.684832	0.29327	T	0.9082915	0.92136	0.8030199	0.88460	0.9082915	0.92137	0.8030199	0.88460	-4.443	0.30136	T	.	.	0.577	0.67928	P	.;.;.	.;.;.	4.113826	0.61441	24.3	0.95474110521271627	0.27025	0.31237	0.24286	N	AEFGBHCIJ	0.208567	0.33464	N	0.288547986479258	0.55566	3.720794	0.248658999030013	0.52573	3.431294	0.999999999999973	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.492483	0.08430	1	.	.	3.34	3.34	0.37357	4.002000	0.56766	4.470000	0.43492	0.585000	0.30472	0.992000	0.37556	1.000000	0.68203	0.593000	0.31214	0.0:1.0:0.0:0.0	10.357	0.43154	934	0.15400	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	73.99	8	chr16	11345532	.	C	A	73.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.409e+00;DP=360;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0250;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.22;ReadPosRankSum=0.231;SOR=1.179	GT:AD:DP:GQ:PL	0/0:18,0:18:42:0,42,510	20	0	1	0
chr16	11404797	11404797	G	A	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon48:c.C7162T:p.R2388C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs980600838	6.485e-05	3.181e-05	5.754e-05	7.197e-05	0.0006	4.034e-05	3.301e-05	0.0002	0.0001	0.0006	0.0003	0	0	0	0	2.53e-05	0.0004	0	0.0006	0.0006	0.0006	0.0006	0.0020	0.0005	0.0004	0.0017	0.0016	0.0020	0	0.0002	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06897259	0.09831	T	.	.	.	.	.	.	.	0.553307244281	0.54988	.	.	.	.	.	.	.	.	.	.	-0.615075	0.00118	T	-0.660904	0.08205	T	.	.	.	0.616838	0.23625	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.27009	B	.	.	2.001093	0.25425	16.76	0.85766071846616942	0.16099	0.02272	0.06560	N	AEFDBHCI	0.025956	0.01866	N	.	.	.	.	.	.	0.994353959172307	0.33600	0.656854	0.48797	0	0.59043	0.45803	0	0.67347	0.61138	0	0.604944	0.38103	0	.	.	4.09	-3.96	0.03833	-1.245000	0.03010	-0.164000	0.11293	-0.235000	0.07621	0.001000	0.13787	0.001000	0.17328	0.018000	0.11154	0.4357:0.158:0.2461:0.1602	1.093	0.01563	940	0.13648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1084.98	41	chr16	11404797	.	G	A	1084.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=902;ExcessHet=0.0000;FS=2.966;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=-2.410e-01;SOR=1.071	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	20	0	1	0
chr16	11446573	11446573	G	-	exonic	LOC400499	.	frameshift deletion	LOC400499:NM_001370704:exon33:c.4813delC:p.L1605Wfs*18,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1875.94	33	chr16	11446572	.	AG	A	1875.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.530e-01;DP=824;ExcessHet=0.0000;FS=2.337;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.76;ReadPosRankSum=1.08;SOR=0.880	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1207	20	0	1	0
chr16	11446584	11446584	G	A	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon33:c.C4802T:p.T1601I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	.	.	.	.	0.065	U	1.000	N	0	N	3.03	T	-0.984	T	0.013	T	0.066	-1.056	0.188	1.24	0.002	1.600	5.284	0.027	0.00526754202668	.	0.000199681	0.0002	0	0.0054	0	0	0.0003	0	0.0001	2.59e-05	4	154602	rs537185140	3.758e-05	3.557e-05	3.281e-05	4.247e-05	0.0003	2.918e-05	2.642e-05	0.0002	0.0001	0	2.801e-05	0	0	5.9e-05	0.0002	2.503e-05	0	0.0003	4.596e-05	4.593e-05	2.569e-05	6.716e-05	0.0002	2.108e-05	1.526e-05	2.846e-05	1.858e-05	0	0	0	0	0	9.423e-05	0	7.35e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.065305	0.02188	U	2.335370	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9839	0.34093	T	0.013	0.05033	T	8	0.005785644	0.00129	T	0.005268	0.13464	T	.	.	.	.	0.0666544352282	0.05500	.	.	.	.	.	.	.	.	.	.	-0.562779	0.00244	T	-0.74304	0.03764	T	0.0180110806793694	0.00525	T	0.387561	0.09552	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.31177	B	.	.	0.520351	0.08890	5.671	0.73459747732101877	0.10336	0.00020	0.00220	N	AEFDBI	0.014596	0.00239	N	-0.930213102921785	0.10140	0.4831859	-1.0236561717389	0.09266	0.4600096	0.0190743269459416	0.13125	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	3.58	1.24	0.20416	1.805000	0.38520	1.412000	0.26289	-0.223000	0.07921	0.132000	0.23378	0.044000	0.21668	0.456000	0.28029	0.7236:0.0:0.2764:0.0	5.284	0.15002	939	0.14249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	935.98	33	chr16	11446584	.	G	A	935.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.825e+00;DP=811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.86;ReadPosRankSum=-6.870e-01;SOR=0.576	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1207	20	0	1	0
chr16	11462225	11462225	C	T	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon24:c.G3307A:p.G1103R,	.	.	428	1084	10	0	0	10	0.00459137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	.	.	.	.	0.918	U	1.000	N	-0.345	N	1.14	T	-1.011	T	0.023	T	0.092	-0.783	0.722	-0.073	0.032	1.161	5.944	0.041	0.0074661279961	.	0.00119808	0.0026	0	0	0	0	0.0006	0	0.0039	0.0002846	44	154602	rs148532774	0.0006	0.0005	0.0005	0.0007	0.0041	0.0005	0.0005	0.0037	0.0036	0	0.0011	0	0	0	0.0028	0.0003	0.0005	0.0041	0.0006	0.0006	0.0004	0.0009	0.0034	0.0005	0.0005	0.0027	0.0024	4.813e-05	0	0.0034	0	0	0	0.0068	0.0004	0	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	0.918136	0.08506	U	0.953154	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-1.0109	0.26635	T	0.023	0.09741	T	8	0.0066248775	0.00150	T	0.007466	0.19819	T	.	.	.	.	0.40318662893	0.39936	.	.	.	.	.	.	.	.	.	.	-0.59717	0.00152	T	-0.63109	0.10331	T	0.0118435154448157	0.00184	T	0.469553	0.13876	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.16319	B	.	.	0.910356	0.12847	9.360	0.79560407364661001	0.12797	0.01363	0.04662	N	AEFDBI	0.054014	0.09785	N	-0.918169669662985	0.10417	0.4976993	-1.01270355949855	0.09505	0.4732974	0.04849515559768	0.14771	0.660377	0.49826	0	0.610034	0.51514	0	0.696353	0.63694	0	0.564101	0.26826	0	.	.	3.68	-0.0732	0.13069	0.802000	0.26730	0.111000	0.14782	0.437000	0.21030	0.001000	0.13787	0.000000	0.08366	0.259000	0.23493	0.1903:0.3426:0.4671:0.0	5.944	0.18444	952	0.10565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1198.98	33	chr16	11462225	.	C	T	1198.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=830;ExcessHet=0.0000;FS=1.444;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.91;ReadPosRankSum=0.889;SOR=0.558	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1346	20	0	1	0
chr16	11471694	11471694	C	T	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon21:c.G2948A:p.R983Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00379393	0.0038	0.0162	0	0	0	0	0	0	0.0002652	41	154602	rs28580707	0.0005	0.0003	0.0007	0.0004	0.0136	0.0005	0.0004	0.0115	0.0106	0.0136	0.0011	0	0	0	0	5.691e-05	0.0012	0	0.0032	0.0032	0.0034	0.0029	0.0108	0.0029	0.0028	0.0100	0.0097	0.0108	0	0.0015	0	0.0002	0	0	1.47e-05	0.0009	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005267322	0.00115	T	.	.	.	.	.	.	.	0.300449992093	0.29664	.	.	.	.	.	.	.	.	.	.	-0.545564	0.00310	T	-0.542816	0.18020	T	.	.	.	0.572743	0.20478	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.03811	B	.	.	0.152869	0.05446	1.918	0.85393923011393102	0.15865	0.00116	0.00732	N	AEFDBI	0.025791	0.01827	N	.	.	.	.	.	.	0.110996699105975	0.16647	0.713056	0.82018	0	0.626922	0.53725	0	0.608524	0.38960	0	0.564101	0.26826	0	.	.	4.01	-1.52	0.08181	-0.378000	0.07503	-2.679000	0.03475	0.529000	0.24592	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.0:0.4233:0.0:0.5767	7.928	0.29049	958	0.09170	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1185.98	40	chr16	11471694	.	C	T	1185.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.47;DP=845;ExcessHet=0.0000;FS=4.582;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=0.201;SOR=1.055	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1046	20	0	1	0
chr16	11476815	11476815	A	G	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon19:c.T2681C:p.L894P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1346679011	2.429e-05	9.542e-06	1.643e-05	3.193e-05	3.793e-05	9.73e-06	6.73e-06	1.562e-05	1.094e-05	0	0	0	0	0	0	3.793e-05	0	0	6.573e-06	6.567e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6284549	0.68378	D	.	.	.	.	.	.	.	0.650641314552	0.64773	.	.	.	.	.	.	.	.	.	.	-0.0778043	0.40072	T	-0.349537	0.39258	T	.	.	.	0.411059	0.10645	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.800	0.77287	P	.	.	2.438208	0.31376	18.72	0.74609088691908088	0.10759	0.91397	0.53451	D	AEFDBI	0.853272	0.77022	D	.	.	.	.	.	.	0.995772007192003	0.34318	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.17	4.17	0.48303	6.330000	0.72881	5.097000	0.47403	0.587000	0.30956	1.000000	0.71638	0.996000	0.32793	0.047000	0.14932	1.0:0.0:0.0:0.0	11.168	0.47782	958	0.09170	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	958.98	38	chr16	11476815	.	A	G	958.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.193e+00;DP=834;ExcessHet=0.0000;FS=2.590;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.40;ReadPosRankSum=0.249;SOR=0.768	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	20	0	1	0
chr16	11478625	11478625	C	T	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon17:c.G2269A:p.G757R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.052e-06	7.952e-06	0	7.995e-06	6.326e-06	0	0	.	.	0	0	0	0	0	0	6.326e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39309618	0.55033	T	.	.	.	.	.	.	.	0.75392318773	0.75169	.	.	.	.	.	.	.	.	.	.	0.00872055	0.52851	T	-0.22525	0.52230	T	.	.	.	0.639136	0.25234	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	0.70349	P	.	.	2.304677	0.29492	18.14	0.84664128562555452	0.15424	0.84598	0.43681	D	AEFDBI	0.177915	0.30517	N	.	.	.	.	.	.	0.696871799438798	0.22651	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.19	3.22	0.36041	2.849000	0.47985	2.144000	0.30864	0.599000	0.40250	0.999000	0.42656	0.854000	0.27420	0.016000	0.10718	0.0:0.7967:0.2033:0.0	10.119	0.41781	958	0.09170	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	976.98	44	chr16	11478625	.	C	T	976.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.719;DP=846;ExcessHet=0.0000;FS=8.870;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=-2.190e+00;SOR=1.392	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	20	0	1	0
chr16	11491742	11491742	G	A	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon13:c.C1688T:p.A563V,	.	.	945	563	10	4	0	18	0.0157343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0007	0	0	0	.	0	0	0.0089	4.53e-05	7	154602	rs554817595	0.0004	0.0003	0.0004	0.0004	0.0062	0.0004	0.0003	0.0031	0.0022	0.0001	0.0004	0.0002	0	0	0.0062	0.0005	0.0008	0.0023	0.0004	0.0004	0.0003	0.0005	0.0039	0.0003	0.0003	0.0026	0.0021	0	0	0.0009	0	0	0	0.0034	0.0004	0.0005	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.842706	0.35093	D	.	.	.	-0.37	0.68892	T	.	.	.	.	.	.	.	.	.	.	.	.	0.0057389736	0.00128	T	.	.	.	.	.	.	.	0.475272412942	0.47157	.	.	.	.	.	.	.	.	.	.	-0.0678414	0.41671	T	-0.335226	0.40885	T	.	.	.	0.577542	0.20782	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.16187	B	.	.	1.860957	0.23640	16.09	0.98527642356406797	0.42545	0.15646	0.19013	N	AEFBCI	0.070981	0.14111	N	.	.	.	.	.	.	0.421756412851524	0.20297	0.614807	0.35715	0	0.588066	0.40923	0	0.616094	0.41390	0	0.567892	0.33627	0	.	.	4.47	2.46	0.29032	1.293000	0.32959	3.287000	0.37275	0.618000	0.50648	0.160000	0.23797	0.994000	0.32194	0.625000	0.32026	0.1:0.1878:0.5408:0.1714	3.153	0.06106	964	0.07719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	678.98	35	chr16	11491742	.	G	A	678.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.579e+00;DP=777;ExcessHet=0.0000;FS=2.063;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.13;ReadPosRankSum=1.40;SOR=1.074	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1197	20	0	1	0
chr16	11767518	11767518	A	G	exonic	ZC3H7A	.	nonsynonymous SNV	ZC3H7A:NM_014153:exon13:c.T1421C:p.I474T,	.	.	595	921	5	1	0	7	0.00378583	.	.	2323525	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.929	P	0.493	P	0.002	N	1.000	D	1.655	L	2.54	T	-1.170	T	0.047	T	0.541	2.787	15.28	5.77	2.204	3.501	15.276	0.133	0.0114031480261	0.0007	0.000599042	0.0007	9.768e-05	0	0	0.0002	0.0010	0	0.0009	0.0006404	99	154602	rs145528953	0.0006	0.0006	0.0005	0.0006	0.0019	0.0006	0.0005	0.0011	0.0008	5.984e-05	6.726e-05	0.0056	0	1.874e-05	0.0019	0.0005	0.0006	0.0010	0.0008	0.0008	0.0009	0.0008	0.0007	0.0007	0.0007	0.0006	0.0005	9.622e-05	0.0592	0.0001	0.0035	0	0	0	0.0007	0	0.0006	0.04	0.42199	D	0.188	0.28669	T	0.135	0.27304	B	0.031	0.21939	B	0.002389	0.36650	N	0.327928	0.997775	0.44180	D	1.84	0.48285	L	2.54	0.57880	T	-3.43	0.67359	D	0.591	0.61511	-1.1702	0.00535	T	0.047	0.20037	T	10	0.008819103	0.00200	T	0.011403	0.28987	T	0.133	0.36157	.	.	0.128874641272	0.12493	0.7465639685345082	0.74602	0.664222400099	0.59062	0.704255223274	0.67760	T	0.223419	0.58756	T	-0.28566	0.10077	T	-0.250584	0.49759	T	0.0474022842565546	0.05037	T	0.877412	0.59112	D	0.2526246	0.48279	0.2866794	0.54677	0.2526246	0.48279	0.2866794	0.54676	-7.994	0.61030	D	.	.	0.374	0.72409	A	.;.;.;.	.;.;.;.	2.928380	0.38899	20.8	0.99548217722503285	0.70961	0.95251	0.64000	D	AEBI	0.194575	0.32165	N	0.245544244818813	0.53418	3.510811	0.356093521484394	0.58875	4.060979	0.998989603906808	0.38135	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.77	5.77	0.91077	3.491000	0.53015	8.055000	0.76373	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.276	0.73445	701	0.57775	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1321.98	41	chr16	11767518	.	A	G	1321.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=853;ExcessHet=0.0000;FS=1.571;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=-7.200e-01;SOR=0.902	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1189	20	0	1	0
chr16	11839820	11839820	G	C	exonic	RSL1D1	.	nonsynonymous SNV	RSL1D1:NM_015659:exon8:c.C1021G:p.P341A,	.	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.015	B	0.007	B	0.250	N	1.000	N	1.59	L	1.07	T	-1.064	T	0.072	T	0.108	-0.605	1.301	-3.36	-0.673	-1.031	1.815	0.005	.	.	0.00419329	0.0025	0	0.0002	0	0	0	0.0011	0.0180	0.0021539	333	154602	rs554764499	0.0010	0.0010	0.0006	0.0014	0.0158	0.0010	0.0009	0.0151	0.0148	5.974e-05	8.944e-05	0	2.519e-05	0	0.0003	5.396e-06	0.0014	0.0158	0.0006	0.0006	0.0002	0.0010	0.0174	0.0005	0.0004	0.0144	0.0133	2.41e-05	0	0	0	0	0	0	4.412e-05	0	0.0174	0.371	0.11514	T	0.954	0.02589	T	0.015	0.17086	B	0.007	0.12992	B	0.250463	0.03643	N	1.629600	1	0.08975	N	2.075	0.57047	M	1.07	0.39586	T	-0.79	0.21860	N	0.121	0.11197	-1.0637	0.10855	T	0.072	0.29259	T	10	0.0033268929	0.00057	T	.	.	.	0.005	0.00259	0.198	0.11110	0.1749357433	0.17121	0.030976413440386416	0.03046	0.0118755130886	0.01121	0.196710675955	0.00367	T	0.010575	0.09538	T	-0.620275	0.00110	T	-0.649479	0.08990	T	0.0207385994718345	0.00774	T	0.50225	0.16663	T	0.013594504	0.00064	0.020590248	0.00144	0.013594504	0.00063	0.020590248	0.00144	-4.104	0.25349	T	.	.	0.054	0.00321	B	.;.	.;.	-0.590032	0.01599	0.108	0.20312631768861769	0.00725	0.06752	0.12774	N	AEFDBCI	0.040433	0.06014	N	-1.25234053735281	0.04269	0.1923318	-1.37003373121431	0.03575	0.1670495	0.947811759875252	0.27771	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.17	-3.36	0.04606	-0.827000	0.04531	-0.137000	0.11557	0.672000	0.70159	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1186:0.3893:0.2131:0.279	1.815	0.02911	716	0.55970	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2368.98	40	chr16	11839820	.	G	C	2368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.350e-01;DP=967;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.07;ReadPosRankSum=1.45;SOR=0.695	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1439	20	0	1	0
chr16	11915680	11915682	CCG	-	exonic	GSPT1	.	nonframeshift deletion	GSPT1:NM_001130006:exon1:c.39_41del:p.G16del	.	.	8	113	9	2	94	107	0.0543933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	4985.65	21	chr16	11915673	.	CCCGCCGCCG	CCCGCCG,CCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCGCCGCCG	4985.65	.	AC=1,12,2,1;AF=0.024,0.286,0.048,0.024;AN=42;BaseQRankSum=0.336;DP=705;ExcessHet=4.5793;FS=0.826;InbreedingCoeff=-0.2115;MLEAC=1,12,2,1;MLEAF=0.024,0.286,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.494;SOR=0.743	GT:AD:DP:GQ:PL	0/2:11,0,9,0,0:20:99:333,367,819,0,452,425,367,819,452,819,367,819,452,819,819	7	0	1	0
chr16	11915682	11915682	-	CCG	exonic	GSPT1	.	nonframeshift insertion	GSPT1:NM_001130006:exon1:c.38_39insCGG:p.G16_S17insG	.	.	296	676	315	99	136	649	0.275067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	4985.65	21	chr16	11915673	.	CCCGCCGCCG	CCCGCCG,CCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCGCCGCCG	4985.65	.	AC=1,12,2,1;AF=0.024,0.286,0.048,0.024;AN=42;BaseQRankSum=0.336;DP=705;ExcessHet=4.5793;FS=0.826;InbreedingCoeff=-0.2115;MLEAC=1,12,2,1;MLEAF=0.024,0.286,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.494;SOR=0.743	GT:AD:DP:GQ:PL	0/2:11,0,9,0,0:20:99:333,367,819,0,452,425,367,819,452,819,367,819,452,819,819	7	0	1	0
chr16	11915682	11915682	-	CCGCCGCCGCCG	exonic	GSPT1	.	nonframeshift insertion	GSPT1:NM_001130006:exon1:c.38_39insCGGCGGCGGCGG:p.G16_S17insGGGG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	4985.65	21	chr16	11915673	.	CCCGCCGCCG	CCCGCCG,CCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCGCCGCCG	4985.65	.	AC=1,12,2,1;AF=0.024,0.286,0.048,0.024;AN=42;BaseQRankSum=0.336;DP=705;ExcessHet=4.5793;FS=0.826;InbreedingCoeff=-0.2115;MLEAC=1,12,2,1;MLEAF=0.024,0.286,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.494;SOR=0.743	GT:AD:DP:GQ:PL	0/2:11,0,9,0,0:20:99:333,367,819,0,452,425,367,819,452,819,367,819,452,819,819	7	0	1	0
chr16	11927475	11927475	G	0	exonic	NPIPB2	.	.	.	.	.	1	10	87	120	8	335	0.942363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	95489.43	192	chr16	11927475	.	G	A,*	95489.43	.	AC=30,4;AF=0.714,0.095;AN=42;BaseQRankSum=1.26;DP=4093;ExcessHet=0.0303;FS=0.000;InbreedingCoeff=0.3824;MLEAC=30,4;MLEAF=0.714,0.095;MQ=59.99;MQRankSum=0.00;QD=24.53;ReadPosRankSum=0.415;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:116,110,0:226:99:.:.:2562,0,2584,2909,2912,5822	2	11	4	0
chr16	11927620	11927620	G	A	exonic	NPIPB2	.	nonsynonymous SNV	NPIPB2:NM_001355514:exon9:c.C425T:p.A142V,	.	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	.	.	.	.	0.78	T	-0.625	T	0.211	T	0.049	0.090	4.487	.	0.088	0.089	.	0.080	.	.	0.00359425	0.0027	0	0.0011	0.0002	0	3.182e-05	0.0104	0.0171	0.002141	331	154602	rs370684740	0.0011	0.0011	0.0007	0.0016	0.0172	0.0011	0.0011	0.0165	0.0162	3.017e-05	0.0011	0	5.042e-05	0	0.0010	3.149e-05	0.0009	0.0172	0.0007	0.0007	0.0003	0.0011	0.0193	0.0006	0.0006	0.0161	0.0150	0.0001	0	0.0005	0	0	0	0	2.941e-05	0	0.0193	0.641	0.07048	T	0.69	0.05920	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.60610	T	-0.09	0.08340	N	0.07	0.04307	-0.6254	0.63764	T	0.211	0.57120	T	3	0.0042072535	0.00084	T	.	.	.	0.080	0.23350	0.485	0.56780	0.266385636622	0.26244	0.01075833148273582	0.01036	0.342334712265	0.36172	.	.	.	.	.	.	-0.594055	0.00158	T	-0.612469	0.11784	T	0.00691194918441587	0.00078	T	0.754325	0.37774	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.38853	B	.;.	.;.	0.174914	0.05632	2.085	0.74324092235382366	0.10653	0.00493	0.02333	N	AEFI	0.038759	0.05532	N	-0.683043081675619	0.16504	0.8415106	-0.914269984670066	0.11756	0.6009302	1.09666439460031E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	0.089000	0.14843	-0.653000	0.08018	0.093000	0.17603	0.227000	0.24611	0.000000	0.08366	0.234000	0.22842	.	.	.	758	0.50837	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3062.98	41	chr16	11927620	.	G	A	3062.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.680;DP=2599;ExcessHet=0.0000;FS=5.055;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.81;MQRankSum=-1.430e-01;QD=12.30;ReadPosRankSum=-2.720e-01;SOR=0.469	GT:AD:DP:GQ:PL	0/0:235,0:235:99:0,120,1800	20	0	1	0
chr16	11927632	11927688	GCTGAGGGTGGAAGGGGAGTGAGCAGACACTCGGGAGGTGTCTTGAGATTATCATCC	-	exonic	NPIPB2	.	nonframeshift deletion	NPIPB2:NM_001355514:exon9:c.357_413del:p.D120_A138del,	.	.	431	1073	18	0	0	18	0.00831793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0035	0.0007	0	0.0002	0.0002	0.0023	0.0051	3.84e-05	1	26028	.	0.0008	0.0013	0.0005	0.0010	0.0076	0.0007	0.0007	0.0071	0.0069	0.0039	0.0007	0.0002	0	0.0002	0.0026	0.0002	0.0011	0.0076	0.0033	0.0045	0.0030	0.0035	0.0145	0.0030	0.0029	0.0118	0.0108	0.0089	0	0.0015	0.0003	0	9.495e-05	0.0068	0.0005	0.0010	0.0145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	990.94	41	chr16	11927631	.	AGCTGAGGGTGGAAGGGGAGTGAGCAGACACTCGGGAGGTGTCTTGAGATTATCATCC	A	990.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.99;DP=2375;ExcessHet=0.0000;FS=15.095;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.51;MQRankSum=0.123;QD=4.15;ReadPosRankSum=3.93;SOR=1.779	GT:AD:DP:GQ:PL	0/1:202,37:239:99:1005,0,8276	20	0	1	0
chr16	11927711	11927711	G	C	exonic	NPIPB2	.	nonsynonymous SNV	NPIPB2:NM_001355514:exon9:c.C334G:p.L112V,	.	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	.	.	.	.	0.32	T	-0.931	T	0.130	T	0.04	-1.864	0.008	.	-1.943	-1.899	.	0.106	0.0138127863163	.	.	1.036e-05	0	0	0	0	0	0.0013	0	3.84e-05	1	26028	rs201932636	0.0002	0.0017	0.0002	0.0002	0.0027	0.0001	0.0001	0.0022	0.0021	0	0.0004	0	0.0027	0.0027	0.0002	5.4e-06	5.009e-05	6.99e-05	0.0009	0.0033	0.0007	0.0013	0.0073	0.0008	0.0008	0.0053	0.0047	4.82e-05	0	0.0026	0	0.0073	0.0056	0	5.891e-05	0.0010	0.0015	0.014	0.53172	D	0.04	0.59159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	0.58468	T	-1.69	0.43334	N	0.127	0.12055	-0.9315	0.43918	T	0.130	0.43927	T	3	0.09202841	0.16170	T	0.013813	0.33491	T	0.106	0.30130	.	.	0.202086224978	0.19791	0.012331672170168784	0.01192	0.344934144322	0.36413	.	.	.	.	.	.	-0.2954	0.09100	T	-0.662098	0.08125	T	0.0531992511397608	0.06054	T	0.557644	0.19406	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31733	B	.;.	.;.	-0.559667	0.01685	0.121	0.32661906320266598	0.01904	0.00039	0.00329	N	AEFI	0.028185	0.02438	N	-1.36778895289409	0.02945	0.130806	-1.62019480396572	0.01537	0.06963554	1.56236997389424E-5	0.02871	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	-1.887000	0.01709	-3.218000	0.02961	-1.946000	0.00487	0.003000	0.16062	0.000000	0.08366	0.003000	0.05239	.	.	.	758	0.50837	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	50.98	41	chr16	11927711	.	G	C	50.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.517e+00;DP=1435;ExcessHet=0.0000;FS=4.708;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=50.82;MQRankSum=-7.708e+00;QD=0.21;ReadPosRankSum=4.57;SOR=0.377	GT:AD:DP:GQ:PL	0/0:145,0:145:99:0,120,1800	20	0	1	0
chr16	11927758	11927758	G	C	exonic	NPIPB2	.	nonsynonymous SNV	NPIPB2:NM_001355514:exon9:c.C287G:p.S96C,	.	.	438	1051	33	0	0	33	0.0154567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	.	.	.	.	0.45	T	-0.349	T	0.240	T	0.122	-0.255	2.776	.	.	0.075	.	0.131	0.0582618907125	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450556377	0.0002	0.0064	9.523e-05	0.0003	0.0011	0.0002	0.0002	0.0008	0.0007	9.191e-05	9.478e-05	3.863e-05	0.0011	0.0011	0	0.0001	0.0002	0.0006	0.0008	0.0037	0.0006	0.0010	0.0027	0.0007	0.0007	0.0015	0.0012	0.0012	0	0.0013	0.0006	0.0027	0.0013	0	0.0002	0.0005	0.0023	0.05	0.39575	D	0.038	0.51421	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	0.56446	T	-2.5	0.54382	D	0.112	0.09914	-0.3494	0.73571	T	0.240	0.60797	T	2	0.18315023	0.33628	T	0.058262	0.67257	D	0.131	0.35738	.	.	0.295974979623	0.29207	0.01663448697236729	0.01618	0.340954684151	0.36029	.	.	.	.	.	.	-0.205534	0.20012	T	-0.533012	0.18987	T	0.00590541775693905	0.00065	T	0.514049	0.16524	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.20508	B	.;.	.;.	0.934291	0.13095	9.599	0.73341217250257651	0.10293	0.00423	0.02085	N	AEFI	0.039253	0.05677	N	-0.34700600144769	0.27382	1.501888	-0.507165962015108	0.21957	1.190372	1.09648973830877E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	0.075000	0.14547	0.823000	0.21872	0.086000	0.17587	0.291000	0.25242	0.000000	0.08366	0.360000	0.25886	.	.	.	758	0.50837	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	59.98	41	chr16	11927758	.	G	C	59.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.637e+00;DP=1237;ExcessHet=0.0000;FS=1.029;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=48.17;MQRankSum=-5.750e-01;QD=0.41;ReadPosRankSum=0.480;SOR=0.499	GT:AD:DP:GQ:PL	0/1:127,19:146:74:74,0,3796	20	0	1	0
chr16	11927788	11927788	T	C	exonic	NPIPB2	.	nonsynonymous SNV	NPIPB2:NM_001355514:exon9:c.A257G:p.H86R,	.	.	447	1068	7	0	0	7	0.00326645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	.	.	.	.	1.04	T	-0.568	T	0.170	T	0.032	-1.085	0.158	.	.	0.065	.	0.067	0.132693555051	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1243067868	2.057e-05	0.0002	1.833e-05	2.284e-05	0.0007	1.443e-05	1.248e-05	0.0004	0.0004	0.0007	7.556e-05	0	0	0	0	0	1.699e-05	4.779e-05	0.0008	0.0020	0.0007	0.0008	0.0027	0.0006	0.0006	0.0023	0.0021	0.0027	0	0.0006	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.04	0.40218	T	-2.56	0.55339	D	0.087	0.06454	-0.5680	0.66095	T	0.170	0.51117	T	2	0.11053592	0.20664	T	0.132694	0.81503	D	0.067	0.19503	0.674	0.81200	0.367042808489	0.36316	0.006866967648232035	0.00653	0.406905597714	0.41562	.	.	.	.	.	.	-0.341065	0.05315	T	-0.727692	0.04432	T	0.0774592484139249	0.09659	T	0.556544	0.19325	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.14706	B	.;.	.;.	-0.293961	0.02643	0.335	0.2887038529165093	0.01504	0.00273	0.01482	N	AEFI	0.030895	0.03197	N	-0.337961426321134	0.27717	1.52297	-0.495714238139624	0.22272	1.208868	1.09648973830877E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	0.065000	0.14336	-5.415000	0.01727	0.085000	0.17582	0.347000	0.25734	0.000000	0.08366	0.422000	0.27272	.	.	.	758	0.50837	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	47.98	41	chr16	11927788	.	T	C	47.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.796e+00;DP=943;ExcessHet=0.0000;FS=6.187;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=34.38;MQRankSum=1.10;QD=0.32;ReadPosRankSum=1.22;SOR=1.647	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr16	12051951	12051951	A	T	exonic	SNX29	.	nonsynonymous SNV	SNX29:NM_001376490:exon8:c.A853T:p.T285S	.	.	420	1093	9	0	0	9	0.00410023	.	.	2807650	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.56	T	.	.	.	.	0.823	N	1.000	D	0.895	L	.	.	-1.043	T	0.095	T	0.068	0.625	7.363	-0.571	-0.391	0.822	7.782	0.047	0.0155961869756	0.0025	0.00159744	0.0021	0.0007	0.0012	0	0.0006	0.0031	0	0.0013	0.0022121	342	154602	rs150300274	0.0036	0.0036	0.0036	0.0036	0.0069	0.0035	0.0035	0.0052	0.0046	0.0007	0.0021	3.827e-05	0	0.0003	0.0069	0.0043	0.0037	0.0012	0.0027	0.0027	0.0027	0.0026	0.0044	0.0024	0.0024	0.0040	0.0038	0.0007	0	0.0039	0	0	9.439e-05	0	0.0044	0.0048	0.0010	0.561	0.06361	T	0.663	0.06448	T	.	.	.	.	.	.	0.822657	0.09166	N	0.916732	0.999995	0.08975	N	.	.	.	0.9	0.45248	T	-0.58	0.17417	N	0.123	0.11483	-1.0427	0.16503	T	0.095	0.35818	T	7	0.004095137	0.00080	T	0.015596	0.36422	T	.	.	.	.	0.148003135375	0.14442	0.13629651383783775	0.13553	.	.	0.341780364513	0.16705	T	0.014162	0.12111	T	-0.626108	0.00101	T	-0.671733	0.07498	T	0.0039223764210912	0.00042	T	0.521748	0.17009	T	0.021301692	0.00725	0.022389593	0.00264	0.021301692	0.00725	0.022389593	0.00264	-2.559	0.06198	T	.	.	0.078	0.06990	B	.	.	0.384214	0.07562	4.214	0.69453264909579915	0.08977	0.24477	0.22406	N	AEFBI	0.047925	0.08123	N	-0.840952613823748	0.12273	0.5972382	-0.910882368747541	0.11837	0.6054806	0.00154831679957211	0.08631	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.91	-0.571	0.11161	1.695000	0.37381	1.784000	0.28742	-0.140000	0.12423	0.505000	0.26994	0.489000	0.25143	0.276000	0.23917	0.3717:0.4927:0.1356:0.0	7.782	0.28235	783	0.47268	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1489.99	34	chr16	12051951	.	A	T	1489.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.179e+00;DP=815;ExcessHet=0.0000;FS=0.678;InbreedingCoeff=-0.0252;MLEAC=1;MLEAF=0.024;MQ=59.77;MQRankSum=1.05;QD=12.21;ReadPosRankSum=-4.740e-01;SOR=0.814	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1179	20	0	1	0
chr16	12704921	12704921	C	T	exonic	CPPED1	.	nonsynonymous SNV	CPPED1:NM_018340:exon3:c.G418A:p.E140K,	.	.	424	1053	44	1	0	46	0.0213755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	T	0.003	B	0.009	B	0.182	N	1.000	N	1.47	L	-1.87	D	-0.896	T	0.210	T	0.153	-0.799	0.678	2.26	0.229	1.041	2.229	0.173	.	0.0075	0.00539137	0.0065	0.0024	0.0080	0.0001	0.0061	0.0084	0.0144	0.0031	0.0064488	997	154602	rs149102231	0.0062	0.0062	0.0062	0.0063	0.0499	0.0061	0.0061	0.0452	0.0433	0.0036	0.0083	0.0356	5.038e-05	0.0050	0.0499	0.0057	0.0093	0.0026	0.0063	0.0063	0.0061	0.0064	0.0088	0.0059	0.0058	0.0076	0.0072	0.0024	0.0329	0.0088	0.0369	0	0.0057	0.0510	0.0065	0.0128	0.0033	0.856	0.02698	T	0.859	0.03418	T	0.003	0.11197	B	0.009	0.14300	B	0.182096	0.17075	N	0.643319	0.999965	0.19781	N	1.61	0.41143	L	-1.87	0.84415	D	-0.65	0.18877	N	0.133	0.12913	-0.8958	0.48408	T	0.210	0.56959	T	10	0.0033424199	0.00058	T	.	.	.	0.173	0.43840	.	.	0.334161072951	0.33023	0.5121376107525119	0.51135	0.0585219304848	0.06489	0.302525937557	0.10778	T	0.056636	0.30342	T	-0.411351	0.01947	T	-0.358245	0.38256	T	0.000492272297246034	0.00004	T	0.60384	0.22664	T	0.05335536	0.10085	0.048856646	0.07343	0.05335536	0.10084	0.048856646	0.07342	-6.533	0.50540	T	.	.	0.088	0.11461	B	.	.	0.915870	0.12904	9.415	0.77108861031554243	0.11740	0.19229	0.20579	N	AEFBI	0.140660	0.26262	N	-1.08559637687677	0.06908	0.3193624	-1.07588644487941	0.08177	0.4008957	3.89740331531611E-4	0.06781	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.32	2.26	0.27418	1.081000	0.30402	-0.311000	0.10039	-0.181000	0.10308	0.088000	0.22533	0.000000	0.08366	0.221000	0.22489	0.1582:0.5187:0.1534:0.1696	2.229	0.03747	964	0.07719	Calcineurin-like phosphoesterase domain, ApaH type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4253.11	35	chr16	12704921	.	C	T	4253.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.740;DP=988;ExcessHet=0.1072;FS=4.483;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.54;ReadPosRankSum=0.184;SOR=0.495	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1046	19	0	2	0
chr16	12705045	12705045	C	A	exonic	CPPED1	.	nonsynonymous SNV	CPPED1:NM_018340:exon3:c.G294T:p.K98N,	.	.	428	1078	15	1	0	17	0.00782329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.002	B	0.026	B	0.053	N	1.000	N	-0.125	N	-0.34	T	-1.014	T	0.073	T	0.057	-0.504	1.690	-6.0	-0.793	-0.379	0.392	0.054	0.0127190188886	0.0015	0.000399361	0.0016	0.0003	0.0009	0	0	0.0015	0.0048	0.0056	0.00152	235	154602	rs202086201	0.0019	0.0019	0.0017	0.0020	0.0049	0.0018	0.0018	0.0046	0.0044	0.0003	0.0007	0.0040	2.53e-05	7.536e-05	0.0039	0.0018	0.0018	0.0049	0.0010	0.0010	0.0011	0.0010	0.0048	0.0009	0.0009	0.0033	0.0028	0.0001	0	0.0008	0.0032	0	0	0	0.0015	0.0024	0.0048	0.5	0.07746	T	0.459	0.12632	T	0.002	0.09854	B	0.026	0.20792	B	0.052743	0.22868	N	0.525817	1	0.08975	N	0.345	0.11182	N	-0.34	0.68474	T	0.21	0.04776	N	0.21	0.23380	-1.0138	0.25720	T	0.073	0.29419	T	10	0.007684499	0.00175	T	0.012719	0.31538	T	0.054	0.15330	0.339	0.32979	0.166414681773	0.16258	0.3220683058182097	0.32119	0.0593736532177	0.06593	0.248930960894	0.03655	T	0.053454	0.29448	T	-0.597813	0.00150	T	-0.631501	0.10301	T	0.00529313091275535	0.00057	T	0.672333	0.28093	T	0.058870483	0.11895	0.034599736	0.02555	0.058870483	0.11895	0.034599736	0.02555	-4.214	0.26954	T	.	.	0.168	0.37063	B	.	.	0.108745	0.05085	1.623	0.59658119888000238	0.06276	0.04133	0.09614	N	AEFBI	0.072485	0.14468	N	-1.48074510491322	0.01986	0.08722397	-1.50994360474112	0.02267	0.1040074	0.0115164754669255	0.12196	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.7	-6.0	0.02021	-0.836000	0.04489	-2.700000	0.03453	-0.207000	0.08511	0.000000	0.06391	0.000000	0.08366	0.056000	0.15673	0.2611:0.1658:0.1926:0.3804	0.392	0.00383	964	0.07719	Calcineurin-like phosphoesterase domain, ApaH type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1774.11	62	chr16	12705045	.	C	A	1774.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.26;DP=822;ExcessHet=0.1072;FS=2.525;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.34;ReadPosRankSum=0.106;SOR=0.480	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1046	19	0	2	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.275	M	1.91	T	-0.639	T	0.257	T	0.982	2.967	15.89	0.019	-0.196	0.232	11.520	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	4257.38	166	chr16	14582206	.	G	C	4257.38	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.582e+00;DP=3785;ExcessHet=43.6797;FS=424.104;InbreedingCoeff=-0.9074;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=1.35;ReadPosRankSum=1.10;SOR=14.488	GT:AD:DP:GQ:PL	0/1:105,61:187:99:230,0,1716	1	0	20	0
chr16	14644534	14644534	C	A	exonic	BFAR	.	nonsynonymous SNV	BFAR:NM_001330500:exon2:c.C188A:p.A63E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.005	B	0.057	N	1.000	D	-0.15	N	3.28	T	-0.908	T	0.008	T	0.278	0.005	4.042	0.86	-0.107	1.209	9.724	0.034	0.00533588333422	.	.	0.0001	0	0.0002	0	0	0.0001	0	0.0005	0.0001229	19	154602	rs771251453	6.636e-05	6.635e-05	4.901e-05	8.389e-05	0.0012	5.562e-05	5.153e-05	0.0006	0.0004	2.987e-05	6.708e-05	0	0	0	0.0012	4.767e-05	4.968e-05	0.0003	9.855e-05	9.844e-05	0.0001	8.064e-05	0.0002	6.006e-05	4.879e-05	9.049e-05	7.013e-05	4.815e-05	0	6.548e-05	0	0	0	0.0034	0.0002	0	0	1.0	0.02039	T	0.737	0.05036	T	0.0	0.02946	B	0.004	0.10090	B	0.057426	0.22481	N	0.506569	1	0.81001	D	0.125	0.08623	N	3.28	0.06523	T	0.05	0.09965	N	0.086	0.08786	-0.9084	0.47049	T	0.008	0.02638	T	10	0.03339094	0.01514	T	0.005336	0.13648	T	0.034	0.08419	.	.	0.148003135375	0.14442	0.36659957602289933	0.36573	0.129847023241	0.14643	0.356572657824	0.18886	T	0.009949	0.09021	T	-0.444899	0.01210	T	-0.584694	0.14128	T	0.0100683977405082	0.00135	T	0.569643	0.20265	T	0.042642996	0.06503	0.101475	0.24292	0.042642996	0.06503	0.101475	0.24292	-5.133	0.38253	T	.	.	0.132	0.43922	B	.;.;.;.	.;.;.;.	0.545616	0.09141	5.925	0.79476163962497071	0.12759	0.79399	0.39337	D	AEFBI	0.031675	0.03434	N	-0.902969079651906	0.10773	0.5164336	-0.688961120383023	0.17236	0.9155802	0.693294445003377	0.22613	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	6.02	0.86	0.18179	1.196000	0.31807	-0.499000	0.08813	-0.185000	0.09859	0.942000	0.32722	0.000000	0.08366	0.940000	0.48062	0.0:0.2636:0.0:0.7364	9.724	0.39486	674	0.60593	Zinc finger, RING-type|Zinc finger, RING-type;Zinc finger, RING-type|Zinc finger, RING-type;Zinc finger, RING-type|Zinc finger, RING-type;Zinc finger, RING-type|Zinc finger, RING-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1044.98	43	chr16	14644534	.	C	A	1044.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.68;DP=839;ExcessHet=0.0000;FS=0.756;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.35;ReadPosRankSum=0.326;SOR=0.549	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1236	20	0	1	0
chr16	14667708	14667711	CCCC	-	exonic	BFAR	.	frameshift deletion	BFAR:NM_001330500:exon6:c.859_862del:p.P287Sfs*45	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	1565.86	33	chr16	14667707	.	GCCCC	G	1565.86	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-5.750e-01;DP=1119;ExcessHet=3.5521;FS=95.623;InbreedingCoeff=-0.2353;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=2.47;ReadPosRankSum=0.627;SOR=9.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1340	13	0	8	0
chr16	14667711	14667711	-	GGGG	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insGGGG:p.L288Rfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1543.44	38	chr16	14667711	.	C	CGGGG,CGGGA,CTGGG	1543.44	.	AC=6,1,1;AF=0.150,0.025,0.025;AN=40;BaseQRankSum=-2.910e-01;DP=1215;ExcessHet=3.5521;FS=95.623;InbreedingCoeff=-0.2571;MLEAC=6,1,1;MLEAF=0.150,0.025,0.025;MQ=60.00;MQRankSum=0.00;QD=2.44;ReadPosRankSum=0.612;SOR=9.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0,0:34:11:.:.:0,11,891,11,891,891,11,891,891,891	12	0	6	1
chr16	14667711	14667711	-	GGGA	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insGGGA:p.L288Rfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1543.44	38	chr16	14667711	.	C	CGGGG,CGGGA,CTGGG	1543.44	.	AC=6,1,1;AF=0.150,0.025,0.025;AN=40;BaseQRankSum=-2.910e-01;DP=1215;ExcessHet=3.5521;FS=95.623;InbreedingCoeff=-0.2571;MLEAC=6,1,1;MLEAF=0.150,0.025,0.025;MQ=60.00;MQRankSum=0.00;QD=2.44;ReadPosRankSum=0.612;SOR=9.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0,0:34:11:.:.:0,11,891,11,891,891,11,891,891,891	12	0	6	1
chr16	14667711	14667711	-	TGGG	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insTGGG:p.I289Gfs*18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1543.44	38	chr16	14667711	.	C	CGGGG,CGGGA,CTGGG	1543.44	.	AC=6,1,1;AF=0.150,0.025,0.025;AN=40;BaseQRankSum=-2.910e-01;DP=1215;ExcessHet=3.5521;FS=95.623;InbreedingCoeff=-0.2571;MLEAC=6,1,1;MLEAF=0.150,0.025,0.025;MQ=60.00;MQRankSum=0.00;QD=2.44;ReadPosRankSum=0.612;SOR=9.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0,0:34:11:.:.:0,11,891,11,891,891,11,891,891,891	12	0	6	1
chr16	14725929	14725929	A	G	exonic	NPIPA2;NPIPA3	.	nonsynonymous SNV	NPIPA3:NM_001277323:exon8:c.A689G:p.Y230C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.001	B	0.001	B	.	.	1.000	N	1.01	L	0.45	T	-0.998	T	0.096	T	0.079	-0.502	1.700	-1.15	-0.331	-0.476	.	0.083	0.00827337580303	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1299805043	0.0005	0.0010	0.0006	0.0005	0.0009	0.0005	0.0004	0.0006	0.0005	8.699e-05	0.0009	0	0.0002	0.0044	0.0006	0.0002	0.0004	0.0001	0.0003	0.0004	0.0001	0.0004	0.0003	0.0002	0.0001	9.206e-05	5.54e-05	0	0	0	0	0	0.0038	0	0.0003	0.0024	0	0.074	0.34800	T	0.091	0.41239	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	0.45	0.56446	T	-5.15	0.83357	D	0.106	0.10056	-0.9979	0.30507	T	0.096	0.36185	T	8	0.15152997	0.28640	T	0.008273	0.21903	T	0.083	0.24192	0.755	0.88484	0.156986980423	0.15292	0.015506281202926301	0.01506	.	.	.	.	.	0.075955	0.35303	T	-0.291105	0.09525	T	-0.655928	0.08545	T	0.0918252496806488	0.11432	T	0.732627	0.34815	T	0.20463446	0.42580	0.2767948	0.53627	0.20463446	0.42580	0.2767948	0.53626	-3.251	0.13114	T	.	.	0.198	0.42067	B	.;.	.;.	0.143692	0.05369	1.853	0.27413583510277256	0.01360	0.00063	0.00458	N	AEFI	0.018832	0.00602	N	-1.19712075733494	0.05044	0.2290148	-1.34101504802424	0.03912	0.1834952	1.3741280706041E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	0.659	-1.15	0.09211	-1.081000	0.03514	-3.102000	0.03059	-0.277000	0.06564	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	670	0.60992	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	95.47	5	chr16	14725929	.	A	G	95.47	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.69;DP=296;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0332;MLEAC=1;MLEAF=0.025;MQ=23.68;MQRankSum=0.086;QD=4.77;ReadPosRankSum=-3.300e-01;SOR=0.197	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,1067	19	0	1	1
chr16	14726010	14726010	T	C	exonic	NPIPA2;NPIPA3	.	nonsynonymous SNV	NPIPA3:NM_001277323:exon8:c.T770C:p.I257T	.	.	680	838	3	1	0	5	0.00297442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	-1.79	N	1.03	T	-1.013	T	0.022	T	0.014	-3.204	0.001	.	-1.852	-1.823	.	0.053	0.00314180491617	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs202008061	0.0002	0.0006	0.0002	0.0003	0.0015	0.0002	0.0002	0.0012	0.0011	0.0006	9.87e-05	0.0001	6.174e-05	0.0001	0.0004	7.162e-05	0.0003	0.0015	0.0001	0.0010	0.0001	0.0001	0.0016	5.736e-05	3.907e-05	0.0003	0.0001	0.0002	0	0	0	0	0	0	6.16e-05	0	0.0016	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.955	0.00212	N	1.03	0.40469	T	1.69	0.00584	N	0.033	0.00882	-1.0130	0.25975	T	0.022	0.09330	T	7	0.0345245	0.01664	T	0.003142	0.06845	T	0.053	0.14996	0.512	0.61000	0.0401082797425	0.02173	0.004018539337772436	0.00376	.	.	.	.	.	0.00255	0.01944	T	-0.399187	0.02344	T	-0.811181	0.01639	T	0.0275903080771918	0.01629	T	0.350665	0.07816	T	0.039952904	0.05612	0.124210164	0.29942	0.039952904	0.05611	0.124210164	0.29942	-2.875	0.08896	T	.	.	0.047	0.00067	B	.;.	.;.	-0.716000	0.01284	0.068	0.13017413792314503	0.00244	0.00023	0.00238	N	AEFI	0.015917	0.00327	N	-2.03967317633838	0.00174	0.007436822	-2.06477550391602	0.00222	0.009794188	1.34638258547086E-5	0.02871	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	-1.595000	0.02196	-0.707000	0.07768	-1.119000	0.01475	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	670	0.60992	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.03125	304.08	5	chr16	14726010	.	T	C	304.08	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-3.441e+00;DP=298;ExcessHet=0.0000;FS=20.895;InbreedingCoeff=-0.0832;MLEAC=1;MLEAF=0.031;MQ=33.81;MQRankSum=1.84;QD=11.26;ReadPosRankSum=0.659;SOR=0.007	GT:AD:DP:GQ:PL	0/1:12,15:27:99:316,0,271	15	0	1	5
chr16	14726076	14726076	T	C	exonic	NPIPA2;NPIPA3	.	nonsynonymous SNV	NPIPA3:NM_001277323:exon8:c.T836C:p.L279P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	0.805	L	1.21	T	-1.029	T	0.045	T	0.047	-2.284	0.004	.	-1.852	-2.199	.	0.058	0.00397844653719	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1406462698	0.0001	0.0002	7.276e-05	0.0002	0.0008	9.658e-05	8.852e-05	0.0006	0.0005	0.0003	8.346e-05	0	0	7.619e-05	0	3.95e-05	7.609e-05	0.0008	0	3.443e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.14	0.25664	T	0.129	0.34837	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.9	0.00240	N	1.21	0.37230	T	2.24	0.00310	N	0.06	0.04307	-1.0287	0.20876	T	0.045	0.19437	T	7	0.044898003	0.03499	T	0.003978	0.09431	T	0.058	0.16647	0.505	0.59924	0.24896430686	0.24499	0.0029226128731134407	0.00272	.	.	.	.	.	0.003583	0.02990	T	-0.360451	0.04105	T	-0.75554	0.03275	T	0.0405458349060842	0.03789	T	0.250275	0.03772	T	0.08533533	0.19789	0.1863864	0.41808	0.08533533	0.19789	0.1863864	0.41807	0.926	0.00142	T	.	.	0.044	0.00042	B	.;.	.;.	0.240374	0.06208	2.657	0.23876675828134272	0.01030	0.00009	0.00143	N	AEFI	0.012237	0.00128	N	-1.75679205571942	0.00660	0.02846103	-1.87808912404042	0.00540	0.02397257	1.34638258547086E-5	0.02871	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	-2.187000	0.01335	-2.697000	0.03456	-0.787000	0.03278	0.006000	0.17386	0.000000	0.08366	0.002000	0.04165	.	.	.	670	0.60992	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	317.96	8	chr16	14726076	.	T	C	317.96	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.355;DP=263;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0518;MLEAC=1;MLEAF=0.026;MQ=40.98;MQRankSum=1.36;QD=26.50;ReadPosRankSum=0.441;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,9:12:82:0|1:14726076_T_*:331,0,82:14726076	18	0	1	2
chr16	14726108	14726126	GCGGAGTGTCTGCTCTATC	-	exonic	NPIPA2;NPIPA3	.	frameshift deletion	NPIPA3:NM_001277323:exon8:c.868_886del:p.A290Pfs*50	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.202e-06	1.291e-05	0	1.749e-05	8.642e-05	2.15e-06	1.45e-06	2.914e-05	1.757e-05	0	0	0	0	0	0	0	0	8.642e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	294.47	8	chr16	14726107	.	TGCGGAGTGTCTGCTCTATC	T	294.47	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.78;DP=246;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0358;MLEAC=1;MLEAF=0.025;MQ=41.07;MQRankSum=1.18;QD=26.77;ReadPosRankSum=-3.740e-01;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,8:11:99:0|1:14726076_T_*:308,0,102:14726076	19	0	1	1
chr16	14726132	14726139	CCACCCTC	-	exonic	NPIPA2;NPIPA3	.	frameshift deletion	NPIPA3:NM_001277323:exon8:c.892_899del:p.P298Sfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.778e-05	1.33e-05	0	5.255e-05	0.0002	1.504e-05	1.123e-05	0.0001	8.084e-05	0	5.77e-05	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	274.32	6	chr16	14726131	.	TCCACCCTC	T	274.32	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-3.500e-02;DP=238;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0277;MLEAC=1;MLEAF=0.025;MQ=42.60;MQRankSum=1.03;QD=30.48;ReadPosRankSum=-3.500e-02;SOR=2.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,7:9:63:0|1:14726076_T_*:288,0,63:14726076	19	0	1	1
chr16	14726143	14726148	GGATGA	-	exonic	NPIPA2;NPIPA3	.	nonframeshift deletion	NPIPA3:NM_001277323:exon8:c.903_908del:p.D302_D303del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.125e-05	1.375e-05	0	5.889e-05	0.0002	1.679e-05	1.251e-05	0.0001	8.414e-05	0	6.346e-05	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	274.4	8	chr16	14726142	.	CGGATGA	C	274.4	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.53;DP=226;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0330;MLEAC=1;MLEAF=0.025;MQ=42.60;MQRankSum=1.03;QD=30.49;ReadPosRankSum=-1.534e+00;SOR=2.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,7:9:63:0|1:14726076_T_*:288,0,63:14726076	19	0	1	1
chr16	14726151	14726152	AT	-	exonic	NPIPA2;NPIPA3	.	frameshift deletion	NPIPA3:NM_001277323:exon8:c.911_912del:p.N304Tfs*22	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	1.381e-05	0	4.25e-05	0.0001	1.038e-05	7.03e-06	6.277e-05	4.296e-05	0	6.555e-05	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	277.53	8	chr16	14726150	.	AAT	A	277.53	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.53;DP=209;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0305;MLEAC=1;MLEAF=0.025;MQ=44.31;MQRankSum=0.489;QD=34.69;ReadPosRankSum=-1.534e+00;SOR=2.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,7:8:21:0|1:14726076_T_*:291,0,21:14726076	19	0	1	1
chr16	14726157	14726157	A	G	exonic	NPIPA2;NPIPA3	.	nonsynonymous SNV	NPIPA3:NM_001277323:exon8:c.A917G:p.K306R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.002	B	0.001	B	.	.	1.000	N	1.735	L	1.91	T	-0.939	T	0.125	T	0.085	-0.173	3.159	.	0.077	0.127	.	0.028	0.00504998270267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.722e-06	7.278e-06	0	1.26e-05	2.389e-05	1.12e-06	4.2e-07	.	.	0	0	0	0	0	0	5.886e-06	0	2.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.069	0.43913	T	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.055	0.26876	L	1.91	0.53731	T	-2.03	0.46673	N	0.04	0.01347	-0.9390	0.42774	T	0.125	0.43028	T	7	0.08550596	0.14441	T	0.00505	0.12784	T	0.028	0.06331	0.406	0.43902	0.0666544352282	0.05500	0.005942036118503938	0.00563	.	.	.	.	.	0.048673	0.28085	T	-0.291125	0.09524	T	-0.655957	0.08541	T	0.0813775770482383	0.10163	T	0.962204	0.85735	D	0.16372555	0.36533	0.09664404	0.22970	0.16372555	0.36533	0.09664404	0.22969	-8.793	0.66355	D	.	.	0.135	0.29228	B	.;.	.;.	0.598900	0.09674	6.445	0.57695375609920907	0.05826	0.00560	0.02552	N	AEFI	0.028063	0.02405	N	-1.05101169838483	0.07568	0.3519923	-1.21255902861993	0.05707	0.2727028	1.09608764381542E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	-0.747000	0.04929	-0.528000	0.08651	-0.663000	0.04345	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	670	0.60992	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	277.53	8	chr16	14726157	.	A	G	277.53	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.53;DP=201;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0254;MLEAC=1;MLEAF=0.025;MQ=44.31;MQRankSum=0.489;QD=34.69;ReadPosRankSum=-1.534e+00;SOR=2.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,7:8:21:0|1:14726076_T_*:291,0,21:14726076	19	0	1	1
chr16	14726160	14726171	CACCTCCCGAGT	-	exonic	NPIPA2;NPIPA3	.	nonframeshift deletion	NPIPA3:NM_001277323:exon8:c.920_931del:p.T307_C311delinsS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.497e-06	3.654e-06	0	6.545e-06	2.403e-05	0	0	.	.	0	0	0	0	0	0	0	0	2.403e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	277.5	8	chr16	14726159	.	ACACCTCCCGAGT	A	277.5	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.53;DP=196;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0279;MLEAC=1;MLEAF=0.025;MQ=44.31;MQRankSum=0.489;QD=34.69;ReadPosRankSum=-1.534e+00;SOR=2.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,7:8:21:0|1:14726076_T_*:291,0,21:14726076	19	0	1	1
chr16	14726165	14726165	C	-	exonic	NPIPA2;NPIPA3	.	frameshift deletion	NPIPA3:NM_001277323:exon8:c.925delC:p.E310Sfs*36	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.55e-05	4.21e-05	4.278e-05	6.649e-05	0.0001	3.317e-05	2.615e-05	5.062e-05	3.268e-05	0	7.842e-05	0	0	0	0	4.889e-05	7.419e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	441.48	8	chr16	14726164	.	TC	T,*	441.48	.	AC=2,1;AF=0.050,0.025;AN=40;BaseQRankSum=-2.155e+00;DP=181;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.4819;MLEAC=1,1;MLEAF=0.025,0.025;MQ=36.48;MQRankSum=1.76;QD=19.19;ReadPosRankSum=1.74;SOR=0.330	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:1,0,7:8:21:0|1:14726076_T_*:291,294,336,0,42,21:14726076	18	1	0	1
chr16	14726164	14726165	TC	0	exonic	NPIPA2;NPIPA3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	441.48	8	chr16	14726164	.	TC	T,*	441.48	.	AC=2,1;AF=0.050,0.025;AN=40;BaseQRankSum=-2.155e+00;DP=181;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.4819;MLEAC=1,1;MLEAF=0.025,0.025;MQ=36.48;MQRankSum=1.76;QD=19.19;ReadPosRankSum=1.74;SOR=0.330	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:1,0,7:8:21:0|1:14726076_T_*:291,294,336,0,42,21:14726076	18	1	0	1
chr16	14726173	14726173	T	G	exonic	NPIPA2;NPIPA3	.	nonsynonymous SNV	NPIPA3:NM_001277323:exon8:c.T933G:p.C311W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.927	P	0.827	P	.	.	1.000	N	1.445	L	2.07	T	-0.947	T	0.169	T	0.249	-0.186	3.097	.	0.077	0.115	.	0.044	0.00488465431786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.369e-06	3.843e-06	0	1.733e-05	8.854e-05	1.56e-06	5.8e-07	.	.	0	8.854e-05	0	0	0	0	0	0	2.875e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.014	0.62352	D	0.927	0.51527	P	0.827	0.59428	P	.	.	.	.	1	0.08975	N	2.465	0.71551	M	2.07	0.49919	T	-7.72	0.95696	D	0.266	0.30118	-0.9469	0.41498	T	0.169	0.50923	T	7	0.33282888	0.50482	T	0.004885	0.12255	T	0.044	0.11924	0.663	0.80098	0.412715890961	0.40891	0.009508678960362914	0.00913	.	.	.	.	.	0.182553	0.53460	T	-0.134764	0.30729	T	-0.431356	0.29781	T	0.897474527359009	0.54939	D	0.939306	0.78262	D	0.3606391	0.57884	0.56766	0.74972	0.3606391	0.57885	0.56766	0.74972	-9.219	0.69095	D	.	.	0.492	0.64206	A	.;.	.;.	1.736773	0.22105	15.48	0.85134886668401888	0.15706	0.00386	0.01946	N	AEFI	0.102194	0.20507	N	-0.583096038000359	0.19458	1.018541	-0.889720245470905	0.12337	0.6339994	1.09608764381542E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	0.252000	0.18046	-0.232000	0.10668	0.283000	0.18654	0.001000	0.13787	0.002000	0.18203	0.001000	0.02609	.	.	.	670	0.60992	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	278.35	7	chr16	14726173	.	T	G	278.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=166;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0662;MLEAC=1;MLEAF=0.026;MQ=44.31;MQRankSum=0.489;QD=34.79;ReadPosRankSum=-1.534e+00;SOR=2.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,7:8:21:0|1:14726076_T_*:291,0,21:14726076	18	0	1	2
chr16	14726177	14726196	CTCACTCCCCTTCCACCCTC	-	exonic	NPIPA2;NPIPA3	.	frameshift deletion	NPIPA3:NM_001277323:exon8:c.937_956del:p.L313Sfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	236.24	6	chr16	14726176	.	GCTCACTCCCCTTCCACCCTC	G	236.24	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.00;DP=152;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0667;MLEAC=1;MLEAF=0.026;MQ=41.58;MQRankSum=0.366;QD=33.75;ReadPosRankSum=-9.670e-01;SOR=2.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,6:7:24:0|1:14726076_T_*:249,0,24:14726076	18	0	1	2
chr16	14726177	14726177	C	0	exonic	NPIPA2;NPIPA3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	723.05	7	chr16	14726177	.	C	T,*	723.05	.	AC=11,1;AF=0.306,0.028;AN=36;BaseQRankSum=-2.530e-01;DP=150;ExcessHet=1.2501;FS=3.780;InbreedingCoeff=-0.0715;MLEAC=12,1;MLEAF=0.333,0.028;MQ=24.72;MQRankSum=-5.240e-01;QD=10.96;ReadPosRankSum=0.036;SOR=1.239	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:1,0,6:7:24:0|1:14726076_T_*:249,252,294,0,42,24:14726076	8	2	7	3
chr16	14726199	14726238	CTCCACCCTCAGTGGATGATAATCTCAAGACACCTCCCAA	-	exonic	NPIPA2;NPIPA3	.	frameshift deletion	NPIPA3:NM_001277323:exon8:c.959_998del:p.A320Gfs*13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	68.27	4	chr16	14726198	.	GCTCCACCCTCAGTGGATGATAATCTCAAGACACCTCCCAA	G	68.27	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-9.670e-01;DP=116;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0610;MLEAC=1;MLEAF=0.026;MQ=23.04;MQRankSum=-9.670e-01;QD=22.76;ReadPosRankSum=-9.670e-01;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2:3:36:0|1:14726076_T_*:81,0,36:14726076	18	0	1	2
chr16	14765358	14765358	A	G	exonic	NPIPA2;NPIPA3	.	nonsynonymous SNV	NPIPA3:NM_001277323:exon8:c.A998G:p.K333R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	0	N	2.27	T	-1.014	T	0.056	T	0.049	0.212	5.143	.	.	.	.	0.113	0.0277069225649	.	.	.	.	.	.	.	.	.	.	.	.	.	rs758928005	2.072e-06	4.107e-06	2.75e-06	1.387e-06	0.0002	5.5e-07	1.5e-07	.	.	2.994e-05	0	0	0	0	0.0002	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.01	0.65728	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.895	0.22405	L	2.27	0.43672	T	-0.79	0.21860	N	0.073	0.04790	-1.0142	0.25593	T	0.056	0.23715	T	4	0.23170567	0.40150	T	0.027707	0.50487	D	0.113	0.31778	0.468	0.54052	0.117506650769	0.11410	0.00348586195369721	0.00325	.	.	.	.	.	0.015771	0.13166	T	-0.340099	0.05381	T	-0.726305	0.04497	T	0.068932934293145	0.08501	T	0.50295	0.15803	T	0.15085286	0.34322	0.12219969	0.29478	0.15085286	0.34322	0.12219969	0.29477	-5.106	0.37971	T	.	.	0.095	0.16099	B	.;.	.;.	1.145365	0.15330	11.77	0.94200639622873195	0.24434	0.00110	0.00700	N	AEFI	0.036072	0.04749	N	-0.32728962430058	0.28115	1.548104	-0.401362670535856	0.24957	1.369671	1.09648973830877E-6	0.01202	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	-1.815000	0.01816	-0.197000	0.10982	-3.795000	0.00059	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	753	0.51500	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1970.98	193	chr16	14765358	.	A	G	1970.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.695e+00;DP=915;ExcessHet=0.0000;FS=1.152;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=40.87;MQRankSum=-3.363e+00;QD=10.21;ReadPosRankSum=0.585;SOR=0.801	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1364	20	0	1	0
chr16	14857610	14857610	A	G	exonic	NOMO1;NOMO3	.	nonsynonymous SNV	NOMO3:NM_001004067:exon11:c.A1175G:p.K392R	.	.	428	1083	11	0	0	11	0.00505282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.009	B	0.017	B	0.000	N	1.000	D	1.8	L	0.98	T	-1.054	T	0.092	T	0.429	1.870	12.21	3.13	1.408	8.558	9.651	0.154	0.00958868603189	0.0005	0.000599042	0.0007	9.61e-05	0	0.0001	0	0.0005	0.0011	0.0030	0.0005757	89	154602	rs142417260	0.0004	0.0004	0.0003	0.0005	0.0033	0.0004	0.0004	0.0030	0.0029	2.988e-05	0.0002	0.0039	0	0	0.0016	0.0002	0.0007	0.0033	0.0003	0.0003	0.0004	0.0002	0.0023	0.0002	0.0002	0.0013	0.0010	2.42e-05	0	0.0003	0.0040	0	0	0	0.0003	0	0.0023	0.192	0.20988	T	0.387	0.28391	T	0.009	0.15093	B	0.017	0.18140	B	0.000006	0.62929	N	0.062022	0.999999	0.58761	D	2.075	0.57047	M	0.98	0.42122	T	-1.68	0.40082	N	0.801	0.81063	-1.0542	0.13251	T	0.092	0.35119	T	10	0.031755358	0.01314	T	0.009589	0.25085	T	0.154	0.40340	.	.	0.286848849266	0.28300	0.3623040874110353	0.36144	.	.	0.785759091377	0.79798	T	0.014025	0.20247	T	-0.392325	0.02598	T	-0.339061	0.40450	T	0.101031753741958	0.12470	T	0.963604	0.86445	D	0.18932873	0.40469	0.23156396	0.48291	0.18932873	0.40469	0.23156396	0.48290	-4.423	0.29867	T	.	.	0.119	0.24599	B	.;.;.	.;.;.	3.917058	0.57157	23.8	0.99300614265891585	0.58613	0.96275	0.68347	D	AEDI	0.768023	0.70371	D	-0.147821035839483	0.35328	2.027768	-0.0478531615313895	0.37583	2.202526	0.709054703452409	0.22796	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.13	3.13	0.35090	8.637000	0.90778	11.072000	0.85602	0.270000	0.18506	1.000000	0.71638	1.000000	0.68203	0.406000	0.26916	1.0:0.0:0.0:0.0	9.651	0.39064	824	0.40336	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	5396.98	33	chr16	14857610	.	A	G	5396.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.880e-01;DP=1225;ExcessHet=0.0000;FS=0.518;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=51.81;MQRankSum=-6.390e-01;QD=11.51;ReadPosRankSum=-9.210e-01;SOR=0.742	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr16	14997798	14997798	G	C	exonic	PDXDC1	.	nonsynonymous SNV	PDXDC1:NM_001285444:exon2:c.G67C:p.A23P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	1.935	M	1.55	T	-0.523	T	0.255	T	0.973	5.075	31	5.33	2.641	8.353	18.361	0.354	0.067963485199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.63226	D	0.008	0.92824	D	1.0	0.90584	D	0.996	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.16	0.60381	M	1.04	0.60361	T	-1.88	0.82341	N	0.935	0.97426	-0.5232	0.67796	T	0.255	0.62530	T	10	0.64544713	0.69299	D	0.067963	0.70316	D	0.354	0.67510	0.34	0.33141	0.865500260314	0.86419	0.6519858534018849	0.65134	0.57903224905	0.53792	0.687091588974	0.65288	T	0.065263	0.34349	T	0.322682	0.84662	D	0.225734	0.84462	D	0.897844910621643	0.54983	D	0.979842	0.93127	D	0.6403191	0.74848	0.678287	0.81103	0.6403191	0.74849	0.678287	0.81104	-17.098	0.98992	D	.	.	0.952	0.88246	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.375527	0.90107	31	0.99782828988776839	0.86955	0.98925	0.88709	D	AEFDBI	0.958152	0.97777	D	0.834563800086936	0.88211	9.494324	0.819355199910117	0.91107	10.721	0.999998829870302	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.33	5.33	0.75683	8.479000	0.90273	11.801000	0.96654	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	18.361	0.90320	675	0.60470	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	172.98	44	chr16	14997798	.	G	C	172.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.855e+00;DP=1460;ExcessHet=0.0000;FS=73.791;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.53;MQRankSum=-1.091e+00;QD=1.54;ReadPosRankSum=1.52;SOR=6.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:81,0:81:97:.:.:0,97,1753	20	0	1	0
chr16	15001843	15001843	C	-	exonic	PDXDC1	.	frameshift deletion	PDXDC1:NM_001285447:exon4:c.184delC:p.Q63Rfs*33	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1333097673	1.376e-06	4.789e-06	2.737e-06	0	1.802e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.802e-06	0	0	6.568e-06	6.566e-06	1.284e-05	0	1.469e-05	0	0	.	.	0	0	0	0	0	0	0	1.469e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	226.94	39	chr16	15001842	.	GC	G	226.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=787;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.19;MQRankSum=1.93;QD=4.93;ReadPosRankSum=0.953;SOR=0.910	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr16	15092583	15092583	A	T	exonic	RRN3	.	nonsynonymous SNV	RRN3:NM_001301064:exon2:c.T121A:p.F41I	.	.	435	1080	7	0	0	7	0.00323027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.999	D	0.996	D	0.000	U	1.000	D	0.55	N	0.78	T	-0.760	T	0.246	T	0.607	3.457	17.71	3.78	1.485	7.249	12.014	0.267	0.1119176956	0.0009	0.000399361	0.0011	9.654e-05	0.0004	0	0.0032	0.0013	0.0033	0.0012	0.0009702	150	154602	rs150087182	0.0013	0.0014	0.0013	0.0014	0.0016	0.0013	0.0013	0.0014	0.0014	5.977e-05	0.0006	0	0	0.0025	0.0012	0.0014	0.0010	0.0016	0.0009	0.0009	0.0009	0.0009	0.0017	0.0008	0.0008	0.0012	0.0011	7.213e-05	0	0.0003	0	0	0.0028	0	0.0014	0	0.0017	0.066	0.58626	T	0.016	0.92824	D	0.999	0.77913	D	0.996	0.84481	D	0.000033	0.55875	U	0.073760	1	0.81001	D	0.695	0.17993	N	0.78	0.64818	T	-1.42	0.46146	N	0.665	0.72299	-0.7596	0.57427	T	0.246	0.61506	T	10	0.018967181	0.00418	T	0.111918	0.78987	D	0.267	0.58126	.	.	0.729076668298	0.72667	0.6555393035927279	0.65489	0.82004380944	0.67116	0.568011641502	0.48396	T	0.129067	0.45712	T	-0.259441	0.12965	T	-0.15223	0.59046	T	0.0541908414942471	0.06222	T	0.834417	0.50357	T	0.13936517	0.32196	0.09549961	0.22653	0.13936517	0.32196	0.09549961	0.22653	-3.409	0.17467	T	.	.	0.161	0.35540	B	.;.;.;.;.	.;.;.;.;.	4.095015	0.61022	24.3	0.98562150874574928	0.42986	0.98806	0.87096	D	AEBI	0.822867	0.74310	D	0.247532225416644	0.53517	3.520188	0.267095466191024	0.53627	3.530811	0.999999981709966	0.74766	0.736574	0.97449	0	0.662677	0.63036	0	0.732669	0.93749	0	0.651492	0.60203	0	.	.	3.78	3.78	0.42629	7.440000	0.79607	7.917000	0.74325	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	1.0:0.0:0.0:0.0	12.014	0.52594	588	0.69043	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	971.33	34	chr16	15092583	.	A	T	971.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-8.210e-01;DP=721;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=57.75;MQRankSum=-2.140e-01;QD=12.61;ReadPosRankSum=0.148;SOR=0.621	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1168	19	0	1	1
chr16	15363700	15363700	G	T	exonic	NPIPA5	.	nonsynonymous SNV	NPIPA5:NM_001277325:exon8:c.C1012A:p.L338I,	.	.	477	1029	3	0	13	16	0.0014556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	.	.	.	.	.	.	1.000	N	0.345	N	0.81	T	-1.017	T	0.057	T	0.127	-0.920	0.397	.	.	0.075	.	0.047	.	.	0.0505192	2.003e-05	0	0	0.0002	0	1.746e-05	0	0	0.0097203	253	26028	rs527823489	5.255e-05	0.0002	4.093e-05	6.428e-05	0.0007	4.223e-05	3.869e-05	0.0004	0.0003	3.2e-05	0.0002	0	0.0007	5.98e-05	0	2.624e-05	7.646e-05	0.0001	0.0004	0.0022	0.0004	0.0004	0.0007	0.0003	0.0003	0.0004	0.0003	0.0003	0	0.0002	0.0006	0.0007	0.0006	0	0.0005	0	0.0005	0.233	0.18122	T	0.309	0.19782	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.84	0.01504	N	0.81	0.48460	T	-0.55	0.16799	N	0.131	0.12627	-1.0168	0.24755	T	0.057	0.23866	T	4	0.002976656	0.00048	T	.	.	.	0.047	0.12962	.	.	0.138757226776	0.13463	0.004372647717961943	0.00411	0.915822070405	0.71238	.	.	.	0.001687	0.01111	T	-0.306415	0.08069	T	-0.677921	0.07111	T	0.018812470270739	0.00592	T	0.285071	0.05059	T	0.12543179	0.29405	0.07566399	0.16681	0.12543179	0.29404	0.07566399	0.16681	-4.525	0.31214	T	.	.	0.089	0.12276	B	.	.	-0.234146	0.02921	0.425	0.75929779573027789	0.11266	0.00194	0.01121	N	AEFI	0.047871	0.08110	N	-0.687684925856888	0.16372	0.8335252	-0.791889517941179	0.14694	0.769087	1.64775418838586E-6	0.01202	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	.	.	.	-1.271000	0.02936	-10.382000	0.00708	-1.093000	0.01529	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	716	0.55970	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.02381	639.98	33	chr16	15363700	.	G	T	639.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.53;DP=985;ExcessHet=0.0000;FS=0.913;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.28;MQRankSum=-7.718e+00;QD=6.46;ReadPosRankSum=-3.985e+00;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,102,1231	20	0	1	0
chr16	15363708	15363709	AC	-	exonic	NPIPA5	.	stoploss	NPIPA5:NM_001277325:exon8:c.1003_1004del:p.R89_90insRSNCRRQEGIKIVLEDIFTLWRQVETKVRAKIRKMKVTTKVNRHDKINGKRKTAKEHLRKLSMKEREHGEKERQVSEAEENGKLDMKEIHTYMEMFQRAQALRRRAEDYYRCKITPSARKPLCNRVRMAAVEHRHSSGLPYWPYLTAETLKNRMGHQPPPPTQQHSIIDNSLSLKTPSERLLYPLPPSADDNLKTPPECLLTPLPPSALPSADDNLKTPAECLLTPLPPSAPPSADDNLKTPPECLLTPLPPSADDNLKKLMKNK*,	.	.	474	1035	9	3	1	16	0.00719424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.985e-05	0	0	0.0004	0	3.475e-05	0	0.0003	3.84e-05	1	26028	rs762895556	7.11e-05	0.0002	7.074e-05	7.146e-05	0.0009	5.928e-05	5.502e-05	0.0006	0.0005	0	0.0003	4.439e-05	0.0009	5.932e-05	0	4.347e-05	5.664e-05	0.0001	0.0005	0.0026	0.0005	0.0005	0.0015	0.0004	0.0004	0.0005	0.0004	0.0004	0	0.0003	0.0006	0.0015	0.0007	0	0.0006	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	988.94	33	chr16	15363707	.	GAC	G	988.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.74;DP=1003;ExcessHet=0.0000;FS=5.200;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.77;MQRankSum=-6.470e+00;QD=8.45;ReadPosRankSum=-5.469e+00;SOR=1.206	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,102,1231	20	0	1	0
chr16	15363787	15363787	C	G	exonic	NPIPA5	.	nonsynonymous SNV	NPIPA5:NM_001277325:exon8:c.G925C:p.A309P,	.	.	449	1067	5	0	1	6	0.00233754	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	0.295	N	0.84	T	-1.011	T	0.051	T	0.182	-1.976	0.007	.	.	-2.162	.	0.026	0.0520698013326	.	.	0.0016	0.0005	0.0005	0.0008	0.0013	0.0020	0	0.0019	0.000194	30	154602	rs367885695	0.0006	0.0021	0.0005	0.0006	0.0034	0.0005	0.0005	0.0028	0.0026	0.0005	0.0022	0.0003	0.0034	0.0009	0.0016	0.0003	0.0011	0.0014	0.0022	0.0054	0.0021	0.0023	0.0062	0.0019	0.0018	0.0047	0.0042	0.0009	0	0.0062	0.0014	0.0021	0.0036	0.0082	0.0022	0.0018	0.0025	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.545	0.00469	N	0.84	0.47477	T	3.31	0.00104	N	0.134	0.13055	-1.0108	0.26666	T	0.051	0.21844	T	4	0.0067711473	0.00154	T	0.05207	0.64923	D	0.026	0.05648	.	.	0.259504319725	0.25562	0.007338804602048364	0.00699	1.08290478472	0.77186	.	.	.	4.54E-4	0.00158	T	-0.245967	0.14596	T	-0.591091	0.13571	T	0.004419723209306	0.00047	T	0.648035	0.25918	T	0.14918122	0.34021	0.2748022	0.53412	0.14918122	0.34021	0.2748022	0.53411	2.464	0.00034	T	.	.	0.052	0.00207	B	.	.	-0.631220	0.01488	0.093	0.53721147967679017	0.04995	0.00024	0.00244	N	AEFDI	0.031713	0.03446	N	-0.824598943474776	0.12684	0.6198001	-0.920574022025108	0.11610	0.5924745	1.64775418838586E-6	0.01202	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	0.137000	0.15816	-0.722000	0.07700	0.156000	0.17708	0.022000	0.19841	0.000000	0.08366	0.025000	0.12405	.	.	.	716	0.55970	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1134.98	38	chr16	15363787	.	C	G	1134.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.770e-01;DP=1465;ExcessHet=0.0000;FS=3.359;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=56.27;MQRankSum=-7.067e+00;QD=5.38;ReadPosRankSum=2.20;SOR=0.938	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1231	20	0	1	0
chr16	15608289	15608289	A	C	splicing	MARF1	NM_014647:exon21:c.4182+2T>G;NM_001184999:exon21:c.4173+2T>G;NM_001184998:exon21:c.4182+2T>G	.	.	.	.	.	.	.	.	.	.	.	0.9999	0.932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.737	15.11	5.87	2.244	8.594	16.269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.013e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.62e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226396	0.76381	D	0.0874256	0.76073	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.880593	0.80035	27.2	0.99249930435919897	0.56825	0.93745	0.59070	D	AEFGBCI	.	.	.	1.1020985799721	0.98172	17.59691	0.939101774359612	0.97063	15.53408	0.999999999994994	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.128073	0.03558	0	0.117559	0.03655	0	0.970338	0.72592	5.87	5.87	0.94266	8.582000	0.90577	11.196000	0.88846	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.154000	0.20445	1.0:0.0:0.0:0.0	16.269	0.82430	668	0.61153	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09091	163.63	64	chr16	15608289	.	A	C	163.63	.	AC=2;AF=0.091;AN=22;BaseQRankSum=-1.574e+00;DP=1100;ExcessHet=0.1072;FS=56.234;InbreedingCoeff=-0.2008;MLEAC=3;MLEAF=0.136;MQ=60.00;MQRankSum=0.00;QD=1.50;ReadPosRankSum=3.25;SOR=6.024	GT:AD:DP:GQ:PL	./.:63,0:63:0:0,0,1250	9	0	2	10
chr16	15715019	15715019	C	G	exonic	MYH11	.	nonsynonymous SNV	MYH11:NM_002474:exon40:c.G5676C:p.E1892D	Aortic aneurysm, familial thoracic 4, Autosomal dominant	.	0	1497	25	0	0	25	0.00828089	.	.	142061	Aortic_aneurysm,_familial_thoracic_4|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|not_provided|not_specified	MONDO:MONDO:0007568,MedGen:C1851504,OMIM:132900|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.884	P	0.766	P	0.000	D	1.000	D	3.18	M	-1.21	T	0.037	D	0.494	T	0.479	3.803	19.31	1.09	0.401	2.567	9.194	0.562	.	0.0052	0.00339457	0.0051	0.0013	0.0079	0	0.0062	0.0065	0.0055	0.0025	0.0051681	799	154602	rs113964173	0.0057	0.0057	0.0057	0.0057	0.0163	0.0056	0.0055	0.0136	0.0126	0.0021	0.0069	0.0054	2.519e-05	0.0059	0.0163	0.0061	0.0068	0.0027	0.0050	0.0050	0.0051	0.0049	0.0079	0.0047	0.0046	0.0068	0.0063	0.0024	0.0011	0.0079	0.0061	0.0002	0.0061	0.0306	0.0061	0.0090	0.0017	0.002	0.72154	D	0.035	0.52389	D	0.884	0.48618	P	0.766	0.56676	P	0.000000	0.84330	D	0.000000	0.999998	0.81001	D	3.245	0.89746	M	-1.21	0.78645	T	-2.65	0.57110	D	0.656	0.67564	0.037	0.82994	D	0.494	0.80811	T	10	0.013423175	0.00285	T	.	.	.	0.562	0.82061	0.385	0.40460	0.836330520374	0.83477	0.3254021080093631	0.32453	0.679322545901	0.59932	0.713986098766	0.69171	T	0.700237	0.91362	D	-0.229723	0.16685	T	-0.0970664	0.63625	T	0.0381361471002338	0.03355	T	0.948505	0.80194	D	0.6787482	0.76902	0.6146772	0.77573	0.69713414	0.77901	0.551593	0.74072	-7.906	0.60428	D	.	.	0.372	0.62152	A	.;.;.;.	.;.;.;.	3.755913	0.53860	23.4	0.99839129645069391	0.91972	0.91549	0.53762	D	AEFDBCI	0.719763	0.67054	D	0.380813121273696	0.60382	4.226598	0.274670842489353	0.54065	3.572653	0.280145057627384	0.18980	0.700653	0.57754	0	0.572659	0.20510	0	0.717052	0.78885	0	0.613276	0.41899	0	.	.	4.76	1.09	0.19517	2.622000	0.46092	0.203000	0.15874	0.587000	0.30956	1.000000	0.71638	0.970000	0.29701	0.995000	0.73285	0.0:0.6481:0.0:0.3519	9.194	0.36379	308	0.87611	.;.;Myosin tail;Myosin tail	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	3905.11	33	chr16	15715019	.	C	G	3905.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.010e-01;DP=989;ExcessHet=0.1072;FS=0.404;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=1.99;SOR=0.744	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1122	19	0	2	0
chr16	15735567	15735567	T	G	exonic	MYH11	.	nonsynonymous SNV	MYH11:NM_002474:exon26:c.A3305C:p.E1102A	Aortic aneurysm, familial thoracic 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.854	P	0.85	P	0.000	D	1.000	D	2.77	M	-1.71	D	0.576	D	0.713	D	0.863	4.352	22.9	5.51	2.096	7.920	14.811	0.893	0.554615026186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.854	0.47077	P	0.85	0.60657	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.615	0.93875	H	-1.71	0.83157	D	-5.26	0.84105	D	0.879	0.90251	0.576	0.91584	D	0.713	0.90152	D	10	0.96654606	0.96149	D	0.554615	0.95908	D	0.893	0.96947	0.748	0.87905	0.935783518842	0.93511	0.5909038103433304	0.59020	0.30277208736	0.32603	0.629984378815	0.57143	T	0.771245	0.93879	D	0.387949	0.89205	D	0.319485	0.89069	D	0.993772685527802	0.84717	D	0.986551	0.95418	D	0.6890625	0.77461	0.68235976	0.81330	0.6890625	0.77462	0.68235976	0.81331	-12.212	0.89289	D	.	.	0.584	0.68231	P	.;.;.;.	.;.;.;.	4.614248	0.73203	26.0	0.99565648882211744	0.72075	0.98108	0.79665	D	AEFDBI	0.903394	0.85242	D	0.649877963238467	0.76361	6.47226	0.600348291796797	0.74966	6.22779	0.999998792885949	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.51	5.51	0.81769	7.891000	0.85843	7.803000	0.69204	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.816000	0.38450	0.0:0.0:0.0:1.0	14.811	0.69624	330	0.86467	.;.;Myosin tail;Myosin tail	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1053.98	37	chr16	15735567	.	T	G	1053.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.17;DP=784;ExcessHet=0.0000;FS=0.889;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.34;ReadPosRankSum=1.31;SOR=0.560	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1270	20	0	1	0
chr16	15740124	15740124	G	A	exonic	MYH11	.	nonsynonymous SNV	MYH11:NM_002474:exon23:c.C2924T:p.T975M	Aortic aneurysm, familial thoracic 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	538093	Connective_tissue_disorder|Aortic_aneurysm,_familial_thoracic_4|MYH11-related_disorder|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Visceral_myopathy_2|Megacystis-microcolon-intestinal_hypoperistalsis_syndrome_2	MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0007568,MedGen:C1851504,OMIM:132900|.|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0859157,MedGen:C5543466,OMIM:619350|MONDO:MONDO:0025708,MedGen:C5543476,OMIM:619351	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.994	D	0.816	P	0.034	N	1.000	D	2.46	M	-0.76	T	0.195	D	0.527	D	0.569	3.822	19.41	4.28	1.952	7.680	15.751	0.544	0.34474033221	.	.	8.236e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs763795192	1.094e-05	1.094e-05	1.089e-05	1.1e-05	0.0002	6.48e-06	5.24e-06	9.89e-06	3.88e-06	5.974e-05	0	0	0	0	0.0002	9.892e-06	1.656e-05	1.159e-05	3.286e-05	3.284e-05	3.853e-05	2.691e-05	0.0002	1.261e-05	7.98e-06	8e-06	2.99e-06	4.827e-05	0	0	0	0.0002	0	0	2.94e-05	0	0	0.002	0.72154	D	0.004	0.74150	D	0.964	0.55854	D	0.77	0.56828	P	0.033733	0.24861	N	0.418766	0.999769	0.48888	D	2.845	0.82663	M	-0.76	0.73417	T	-3.52	0.68412	D	0.301	0.35620	0.195	0.85830	D	0.527	0.82389	D	10	0.43032354	0.57447	T	0.34474	0.92110	D	0.544	0.81018	0.326	0.30873	0.681506863636	0.67879	0.2754952731888177	0.27462	0.520677912175	0.49859	0.621449708939	0.55934	T	0.719614	0.92065	D	-0.0959989	0.37087	T	-0.0962371	0.63688	T	0.77514374256134	0.44751	D	0.90371	0.66210	D	0.17077819	0.37672	0.32076684	0.58029	0.17077819	0.37672	0.32076684	0.58029	-8.721	0.67626	D	.	.	0.170	0.46203	B	.;.;.;.	.;.;.;.	4.701753	0.75451	26.3	0.99821537402461513	0.90414	0.97738	0.76776	D	AEFDGBI	0.875514	0.79897	D	0.653418977002224	0.76593	6.514718	0.601055623922103	0.75017	6.236633	0.999551605264585	0.40362	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.28	4.28	0.50183	7.848000	0.85199	9.737000	0.81421	0.633000	0.51936	1.000000	0.71638	1.000000	0.68203	0.377000	0.26268	0.0:0.0:1.0:0.0	15.751	0.77750	341	0.85936	.;.;Myosin tail;Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1372.98	34	chr16	15740124	.	G	A	1372.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.956;DP=835;ExcessHet=0.0000;FS=2.264;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.64;ReadPosRankSum=1.57;SOR=0.483	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1377	20	0	1	0
chr16	16165886	16165886	G	A	exonic	ABCC6	.	nonsynonymous SNV	ABCC6:NM_001171:exon23:c.C3043T:p.R1015W	Arterial calcification, generalized, of infancy, 2, Autosomal recessive;Pseudoxanthoma elasticum, Autosomal recessive;Pseudoxanthoma elasticum, forme fruste, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1474552	not_provided|Inborn_genetic_diseases|Autosomal_recessive_inherited_pseudoxanthoma_elasticum|Pseudoxanthoma_elasticum,_forme_fruste|Arterial_calcification,_generalized,_of_infancy,_2	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009925,MedGen:C1275116,OMIM:264800,Orphanet:758|MONDO:MONDO:0008333,MedGen:C1867450,OMIM:177850,Orphanet:758|MONDO:MONDO:0013768,MedGen:C3276161,OMIM:614473,Orphanet:51608	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.91	D	0.555	U	1.000	N	2.405	M	-2.9	D	0.190	D	0.821	D	0.519	2.579	14.58	4.46	2.529	1.402	6.830	0.435	0.121187376991	.	.	1.687e-05	0	8.731e-05	0	0	1.546e-05	0	0	1.29e-05	2	154602	rs756768329	2.259e-05	2.257e-05	2.588e-05	1.926e-05	5.974e-05	1.611e-05	1.417e-05	1.83e-05	1.582e-05	5.974e-05	0	0	0	0	0	2.608e-05	3.312e-05	0	3.286e-05	3.284e-05	3.855e-05	2.691e-05	7.242e-05	1.261e-05	7.98e-06	1.92e-05	1.032e-05	7.242e-05	0	0	0	0	0	0	2.94e-05	0	0	0.184	0.21634	T	0.186	0.28860	T	1.0	0.90584	D	0.91	0.64641	D	0.555272	0.11393	U	0.724655	1	0.08975	N	2.7	0.79018	M	-2.9	0.91643	D	-1.66	0.39692	N	0.551	0.57690	0.190	0.85737	D	0.821	0.93966	D	10	0.40429658	0.55784	T	0.121187	0.80189	D	0.435	0.74022	.	.	0.936821167959	0.93617	0.5233772261187059	0.52261	0.344285718814	0.36357	0.355102151632	0.18671	T	0.562859	0.85396	D	-0.0670741	0.41793	T	-0.0974552	0.63595	T	0.377145111560822	0.28073	T	0.909809	0.80662	D	0.18410005	0.39709	0.18271753	0.41217	0.18410005	0.39709	0.18271753	0.41216	-8.971	0.67510	D	0.3392493008071034	0.43707	0.115	0.23041	B	.;.	.;.	4.336571	0.66495	25.0	0.99873846034026936	0.95076	0.14197	0.18274	N	AEFGBI	0.486758	0.52579	N	0.376410334887468	0.60146	4.20044	0.286650415836542	0.54760	3.640009	0.00700400823693657	0.11362	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.42	4.46	0.53567	1.654000	0.36950	5.096000	0.47395	0.582000	0.30178	0.548000	0.27330	0.989000	0.31174	0.752000	0.35857	0.1393:0.1666:0.694:0.0	6.830	0.23090	895	0.25842	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2639.98	34	chr16	16165886	.	G	A	2639.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.60;DP=904;ExcessHet=0.0000;FS=1.735;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=1.82;SOR=0.835	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr16	16169807	16169807	G	A	exonic	ABCC6	.	nonsynonymous SNV	ABCC6:NM_001171:exon22:c.C2834T:p.P945L	Arterial calcification, generalized, of infancy, 2, Autosomal recessive;Pseudoxanthoma elasticum, Autosomal recessive;Pseudoxanthoma elasticum, forme fruste, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.482	P	0.105	B	0.000	U	1.000	D	0.525	N	-2.54	D	-0.368	T	0.404	T	0.412	-0.164	3.200	5.0	2.328	3.528	11.043	0.372	0.158136685256	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1375496546	9.164e-06	8.893e-06	4.186e-06	1.425e-05	0.0001	5.11e-06	3.94e-06	8.466e-05	6.605e-05	0	0	0	0	0	0	9.171e-07	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.655	0.04772	T	0.656	0.06598	T	0.482	0.36779	P	0.105	0.31087	B	0.000169	0.48594	U	0.000000	0.999999	0.58761	D	0.635	0.15989	N	-2.54	0.89496	D	-1.64	0.39314	N	0.151	0.15469	-0.3679	0.73025	T	0.404	0.75444	T	10	0.5148872	0.62308	D	0.158137	0.83859	D	0.372	0.69102	0.432	0.48171	0.893272209058	0.89221	0.27800147752182963	0.27713	0.0691614642767	0.07740	0.382886499166	0.22665	T	0.078854	0.35991	T	-0.0880776	0.38394	T	-0.138592	0.60240	T	0.214438002722453	0.21183	T	0.780822	0.41560	T	0.10638555	0.25155	0.15608595	0.36559	0.10638555	0.25155	0.15608595	0.36558	-2.998	0.10159	T	0.1580603324661146	0.19127	0.101	0.17360	B	.	.	3.010522	0.40256	21.1	0.2088136668546127	0.00771	0.95660	0.65617	D	AEFDBI	0.575324	0.57776	D	-0.345357510280062	0.27443	1.505704	-0.281041043567088	0.28723	1.603691	0.997018830648839	0.35200	0.428477	0.06694	0	0.547309	0.14657	0	0.48864	0.07692	0	0.613276	0.41899	0	.	.	5.0	5.0	0.66209	3.034000	0.49441	8.476000	0.77285	0.650000	0.52971	0.997000	0.40164	1.000000	0.68203	0.350000	0.25659	0.0854:0.0:0.9146:0.0	11.043	0.47059	883	0.28872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1579.98	56	chr16	16169807	.	G	A	1579.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.393;DP=830;ExcessHet=0.0000;FS=1.630;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.34;ReadPosRankSum=-3.380e-01;SOR=0.504	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1190	20	0	1	0
chr16	16182528	16182528	C	T	exonic	ABCC6	.	nonsynonymous SNV	ABCC6:NM_001171:exon17:c.G2131A:p.V711M	Arterial calcification, generalized, of infancy, 2, Autosomal recessive;Pseudoxanthoma elasticum, Autosomal recessive;Pseudoxanthoma elasticum, forme fruste, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	1501155	ABCC6-related_disorder|Arterial_calcification,_generalized,_of_infancy,_2|Autosomal_recessive_inherited_pseudoxanthoma_elasticum|Pseudoxanthoma_elasticum,_forme_fruste|not_provided	.|MONDO:MONDO:0013768,MedGen:C3276161,OMIM:614473,Orphanet:51608|MONDO:MONDO:0009925,MedGen:C1275116,OMIM:264800,Orphanet:758|MONDO:MONDO:0008333,MedGen:C1867450,OMIM:177850,Orphanet:758|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.999	D	0.989	D	0.018	U	1.000	D	1.985	M	-2.8	D	0.488	D	0.722	D	0.615	2.287	13.60	3.91	1.044	2.098	9.203	0.663	0.179550060759	7.7e-05	0.000399361	6.595e-05	0	0.0002	0	0.0002	2.998e-05	0	0.0002	9.7e-05	15	154602	rs200800189	4.515e-05	4.515e-05	3.948e-05	5.088e-05	0.0006	3.641e-05	3.321e-05	0.0004	0.0003	0	0.0006	0	2.519e-05	5.616e-05	0.0005	9.892e-06	4.967e-05	0.0002	4.595e-05	4.593e-05	3.854e-05	5.369e-05	0.0003	2.107e-05	1.526e-05	8.869e-05	5.281e-05	0	0	0.0003	0	0	9.414e-05	0	0	0.0005	0.0002	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.989	0.78396	D	0.017523	0.27701	U	0.171760	0.953309	0.37824	D	2.25	0.63811	M	-2.8	0.91076	D	-2.24	0.50175	N	0.617	0.63289	0.488	0.90384	D	0.722	0.90459	D	10	0.4390047	0.57980	T	0.17955	0.85430	D	0.663	0.87430	.	.	0.817654381417	0.81593	0.44974024110822897	0.44892	0.395040691216	0.40653	0.559077143669	0.47137	T	0.642658	0.89061	D	-0.0555433	0.43602	T	-0.0172367	0.69210	D	0.318404257297516	0.25757	T	0.941806	0.87805	D	0.69773185	0.77933	0.62984836	0.78410	0.64313906	0.75000	0.6488289	0.79460	-7.105	0.56473	T	0.7651899904596261	0.84666	0.299	0.52929	B	.;.	.;.	3.391696	0.46957	22.4	0.99879607733266107	0.95572	0.61143	0.31399	D	AEFDBCI	0.174203	0.30132	N	0.333838287092984	0.57891	3.958578	0.226770949270869	0.51338	3.317209	0.0201043710555477	0.13226	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.86	3.91	0.44383	2.399000	0.44148	1.083000	0.23909	0.598000	0.34611	0.992000	0.37556	0.514000	0.25272	0.258000	0.23468	0.0:0.8236:0.0:0.1764	9.203	0.36433	883	0.28872	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1538.98	37	chr16	16182528	.	C	T	1538.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.678e+00;DP=845;ExcessHet=0.0000;FS=1.571;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.99;ReadPosRankSum=1.34;SOR=0.518	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,103,1343	20	0	1	0
chr16	16265111	16265111	G	A	exonic	NOMO2;NOMO3	.	nonsynonymous SNV	NOMO3:NM_001004067:exon15:c.G1738A:p.V580M	.	.	590	931	1	0	0	1	0.000536769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.976	D	0.681	P	0.001	N	1.000	D	1.32	L	3.6	T	-1.020	T	0.021	T	0.313	1.795	11.96	4.18	1.916	8.053	10.291	0.143	0.025518822537	0.0027	.	0.0022	0.0030	0.0001	0.0002	0	0.0026	0.0015	0.0032	0.0003074	8	26028	rs201651768	0.0022	0.0027	0.0022	0.0022	0.0066	0.0022	0.0021	0.0058	0.0055	0.0066	0.0007	0.0289	0.0007	0.0006	0.0012	0.0015	0.0042	0.0026	0.0037	0.0088	0.0038	0.0036	0.0082	0.0034	0.0033	0.0073	0.0070	0.0082	0	0.0024	0.0281	0.0007	0.0009	0	0.0015	0.0037	0.0041	0.163	0.24661	T	0.319	0.20551	T	0.863	0.47474	P	0.308	0.41327	B	0.001006	0.40652	N	0.208583	0.999974	0.53665	D	1.74	0.45129	L	3.58	0.04645	T	-1.23	0.31170	N	0.548	0.58202	-1.0196	0.23845	T	0.021	0.08824	T	10	0.0061551034	0.00139	T	0.025519	0.48485	D	0.143	0.38195	.	.	0.178374595973	0.17440	0.2960052322219181	0.29513	.	.	0.505358934402	0.39575	T	0.009962	0.20707	T	-0.461543	0.00962	T	-0.430624	0.29864	T	0.0725244822772686	0.09001	T	0.842416	0.51891	T	0.056254838	0.11043	0.0566962	0.10176	0.056254838	0.11043	0.0566962	0.10175	-9.581	0.71362	D	.	.	0.108	0.21239	B	.;.	.;.	3.744448	0.53636	23.4	0.99491236919726156	0.67460	0.98605	0.84611	D	AEFI	0.753155	0.69343	D	0.217833299598241	0.52063	3.383011	0.184078829841463	0.48974	3.106399	0.15884247024916	0.17560	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.18	4.18	0.48473	8.182000	0.89644	9.808000	0.81731	0.611000	0.49015	1.000000	0.71638	1.000000	0.68203	0.278000	0.23967	0.0921:0.0:0.9079:0.0	10.291	0.42780	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1477.98	36	chr16	16265111	.	G	A	1477.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.76;DP=813;ExcessHet=0.0000;FS=10.506;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=37.35;MQRankSum=-2.225e+00;QD=10.95;ReadPosRankSum=0.468;SOR=1.599	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1344	20	0	1	0
chr16	17470643	17470643	C	T	exonic	XYLT1	.	nonsynonymous SNV	XYLT1:NM_022166:exon1:c.G154A:p.G52S,	Desbuquois dysplasia 2, Autosomal recessive	.	335	1186	1	0	0	1	0.000421408	.	.	573744	XYLT1-related_disorder|not_provided|Desbuquois_dysplasia_1	.|MedGen:C3661900|MONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450,Orphanet:1425	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.39	T	0.002	B	0.0	B	0.762	U	1.000	N	0	N	3.72	T	-0.904	T	0.008	T	0.118	0.798	8.199	0.456	-0.012	2.081	4.531	0.027	.	.	.	0.0083	0	0	0	0	0	0	0.0108	0.0001423	22	154602	rs766521030	0.0014	0.0012	0.0014	0.0014	0.0020	0.0014	0.0013	0.0016	0.0015	0.0002	0.0002	0	0	0	0	0.0015	0.0013	0.0020	0.0009	0.0009	0.0010	0.0009	0.0017	0.0008	0.0007	0.0012	0.0012	0.0006	0	0.0002	0	0	0.0001	0	0.0015	0.0005	0.0017	0.2	0.20381	T	0.646	0.06836	T	0.002	0.09854	B	0.0	0.01387	B	0.762402	0.06548	U	1.272680	0.999997	0.08975	N	0	0.06538	N	3.72	0.04014	T	-0.02	0.07299	N	0.074	0.04790	-0.9040	0.47561	T	0.008	0.02720	T	10	0.004581392	0.00095	T	.	.	.	0.027	0.05988	.	.	0.0675242888579	0.06100	0.3027944210675014	0.30192	0.218589782326	0.24401	0.880343794823	0.94006	D	0.011955	0.10589	T	-0.644677	0.00078	T	-0.704978	0.05558	T	0.0144837201733808	0.00294	T	.	.	.	0.08412715	0.19459	0.10554958	0.25375	0.08412715	0.19458	0.10554958	0.25375	-5.719	0.43862	T	.	.	0.104	0.18705	B	.	.	2.191441	0.27940	17.63	0.9553868137550926	0.27183	0.03860	0.09219	N	AEFDBHCI	0.040586	0.06057	N	-1.09693957502039	0.06699	0.3091363	-1.12061787919747	0.07306	0.3549148	0.99994262170587	0.47345	0.455138	0.09556	0	0.552344	0.17405	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	1.62	0.456	0.15868	0.110000	0.15273	2.751000	0.34535	0.259000	0.18387	0.002000	0.15269	1.000000	0.68203	0.092000	0.17891	0.0:0.7681:0.0:0.2319	4.531	0.11411	968	0.07033	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	379.98	18	chr16	17470643	.	C	T	379.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.909e+00;DP=494;ExcessHet=0.0000;FS=7.231;InbreedingCoeff=-0.0249;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.61;ReadPosRankSum=0.417;SOR=1.773	GT:AD:DP:GQ:PL	0/0:26,0:26:72:0,72,1080	20	0	1	0
chr16	18324414	18324414	G	A	exonic	NPIPA7;NPIPA8	.	nonsynonymous SNV	NPIPA7:NM_001282507:exon3:c.C277T:p.R93C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	.	.	.	.	.	.	.	.	.	.	0.36	T	-0.948	T	0.119	T	0.081	0.733	7.894	0.376	-1.326	-1.511	.	0.113	0.0081457413965	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1157031326	0.0009	0.0012	0.0009	0.0009	0.0018	0.0008	0.0008	0.0012	0.0010	0.0018	0.0005	0.0003	0.0012	0.0007	0.0005	0.0008	0.0018	0.0008	0.0004	0.0009	0.0006	0.0003	0.0017	0.0003	0.0002	0.0006	0.0004	0.0006	0	0	0	0.0017	0	0	0.0003	0.0017	0.0007	0.092	0.31682	T	0.107	0.37730	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	0.57880	T	-3.52	0.68412	D	0.071	0.04426	-0.9481	0.41296	T	0.119	0.41691	T	4	0.019787282	0.00446	T	0.008146	0.21598	T	0.113	0.31778	0.336	0.32491	0.187945064343	0.18414	0.0018386534374030606	0.00169	.	.	.	.	.	0.069445	0.33711	T	-0.26369	0.12472	T	-0.616549	0.11459	T	0.0444860063165874	0.04508	T	.	.	.	0.13524553	0.31395	0.12266561	0.29586	0.13524553	0.31395	0.12266561	0.29585	-5.443	0.41331	T	.	.	0.130	0.27791	B	.;.	.;.	1.770332	0.22515	15.65	0.99178656209733851	0.54614	0.00357	0.01833	N	AEFI	0.032978	0.03827	N	-1.17707384010669	0.05348	0.2435711	-1.37289109591369	0.03543	0.1655022	3.50767356219701E-6	0.01202	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	0.376	0.376	0.15424	-1.514000	0.02358	-1.928000	0.04482	-1.078000	0.01575	0.333000	0.25615	0.000000	0.08366	0.002000	0.04165	.	.	.	964	0.07719	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	282.58	30	chr16	18324414	.	G	A	282.58	.	AC=2;AF=0.056;AN=36;DP=312;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.9006;MLEAC=2;MLEAF=0.056;MQ=26.09;QD=28.26;SOR=3.258	GT:AD:DP:GQ:PL	0/0:10,0:10:30:0,30,348	17	1	0	3
chr16	18520877	18520877	T	C	exonic	NOMO2	.	nonsynonymous SNV	NOMO2:NM_001004060:exon19:c.A2161G:p.R721G	.	.	420	1089	13	0	0	13	0.00593336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.993	D	0.787	P	0.000	D	1.000	D	0	N	3.64	T	-0.793	T	0.013	T	0.768	1.532	11.08	2.22	0.438	0.935	9.019	0.187	0.0279802166945	.	.	0.0008	0.0001	0.0002	0	0	0.0007	0.0033	0.0028	3.84e-05	1	26028	rs749051082	0.0005	0.0007	0.0004	0.0005	0.0051	0.0004	0.0004	0.0036	0.0031	5.975e-05	0.0003	0.0008	0	0	0.0051	0.0004	0.0007	0.0021	0.0003	0.0005	0.0004	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	4.809e-05	0	0.0003	0.0003	0	0	0.0068	0.0005	0.0009	0.0010	0.158	0.26629	T	0.013	0.92824	D	0.014	0.16867	B	0.009	0.14300	B	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	0	0.06538	N	3.64	0.04399	T	-0.95	0.25332	N	0.837	0.86941	-0.7935	0.55526	T	0.013	0.05033	T	10	0.08753258	0.14987	T	0.02798	0.50720	D	0.187	0.46274	.	.	0.31077124679	0.30691	0.6336783096815357	0.63301	.	.	0.594283103943	0.52098	T	0.007539	0.06940	T	-0.347144	0.04909	T	-0.276973	0.47115	T	0.0347181973874079	0.02761	T	0.956104	0.83775	D	0.2227827	0.44885	0.1551629	0.36384	0.2227827	0.44885	0.1551629	0.36383	-5.099	0.41284	T	.	.	0.182	0.42906	B	.;.;.;.;.	.;.;.;.;.	2.522562	0.32602	19.09	0.97507598280086194	0.34331	0.75480	0.36958	D	AEFI	0.455969	0.50803	N	-0.365101523926914	0.26721	1.460499	-0.298532606994092	0.28146	1.567075	5.2496797031966E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	3.37	2.22	0.27116	1.235000	0.32274	1.258000	0.25213	0.319000	0.19345	1.000000	0.71638	1.000000	0.68203	0.651000	0.32720	0.0:0.0:0.1872:0.8128	9.019	0.35351	940	0.13648	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	968.98	39	chr16	18520877	.	T	C	968.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.900e-01;DP=1210;ExcessHet=0.0000;FS=1.111;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=32.81;MQRankSum=-7.120e-01;QD=3.60;ReadPosRankSum=1.12;SOR=0.597	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr16	18547267	18547267	A	C	exonic	NOMO2	.	stopgain	NOMO2:NM_001004060:exon6:c.T543G:p.Y181X	.	.	869	650	3	0	0	3	0.00230238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	6.433	37	2.61	0.583	2.426	8.373	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1480794961	0.0047	0.0050	0.0050	0.0045	0.0059	0.0046	0.0045	0.0056	0.0055	0.0018	0.0058	0.0020	3.211e-05	0.0019	0.0044	0.0059	0.0063	0.0038	0.0030	0.0036	0.0034	0.0025	0.0044	0.0027	0.0026	0.0039	0.0037	0.0009	0	0.0037	0.0031	0	0.0013	0.0038	0.0044	0.0067	0.0032	.	.	.	.	.	.	.	.	.	.	.	.	0.000001	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.494	0.52829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55994	0.96164	D	0.566539	0.96104	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.;.;.	.;High;.;.;.	6.125799	0.94619	34	0.99754340038431377	0.84537	0.91081	0.52822	D	AEFI	0.104209	0.20857	N	0.493972120828858	0.66735	4.988969	0.298125522242404	0.55431	3.706032	8.32273602624631E-6	0.01202	0.732398	0.92422	0	0.709663	0.81188	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	3.72	2.61	0.30255	1.886000	0.39322	-0.149000	0.11438	0.338000	0.19717	1.000000	0.71638	0.004000	0.18990	0.781000	0.36947	0.9025:0.0:0.0975:0.0	8.373	0.31585	934	0.15400	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	30.13	16	chr16	18547267	.	A	C	30.13	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.036e+00;DP=152;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0348;MLEAC=1;MLEAF=0.024;MQ=25.00;MQRankSum=0.00;QD=6.03;ReadPosRankSum=1.65;SOR=0.446	GT:AD:DP:GQ:PL	0/0:7,0:7:21:0,21,278	20	0	1	0
chr16	18798007	18798007	C	T	exonic	ARL6IP1	.	nonsynonymous SNV	ARL6IP1:NM_001313858:exon3:c.G121A:p.V41I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.019	B	0.016	B	0.000	D	1.000	D	0.975	L	0.86	T	-1.058	T	0.095	T	0.153	3.452	17.69	5.48	2.722	4.199	12.661	0.037	0.00667806585354	.	.	4.958e-05	0	0	0	0.0002	6.014e-05	0	6.062e-05	3.88e-05	6	154602	rs199972537	3.216e-05	3.215e-05	2.86e-05	3.577e-05	3.598e-05	2.479e-05	2.221e-05	2.712e-05	2.387e-05	2.989e-05	0	0	0	3.745e-05	0	3.598e-05	4.969e-05	1.16e-05	3.946e-05	3.941e-05	3.857e-05	4.039e-05	7.251e-05	1.716e-05	1.13e-05	1.923e-05	1.033e-05	7.251e-05	0	0	0	0	9.436e-05	0	2.94e-05	0	0	0.491	0.14645	T	0.056	0.46632	T	0.019	0.17989	B	0.016	0.17743	B	0.000022	0.55875	D	0.119263	0.99819	0.81001	D	1.3	0.32576	L	0.86	0.46777	T	-0.2	0.10136	N	0.261	0.30687	-1.0578	0.12311	T	0.095	0.35765	T	10	0.1798431	0.33139	T	0.006678	0.17642	T	0.037	0.09474	.	.	0.132336055621	0.12781	0.481158153913509	0.48035	0.452551727859	0.44973	0.511164665222	0.40386	T	0.02182	0.16927	T	-0.309144	0.07823	T	-0.501544	0.22188	T	0.100304166262794	0.12391	T	0.856614	0.54540	D	0.07588499	0.17127	0.054688986	0.09454	0.07588499	0.17127	0.054688986	0.09454	-3.039	0.10607	T	.	.	0.074	0.05060	B	.;.;.	.;.;.	3.387299	0.46878	22.4	0.9972100984713741	0.82054	0.86257	0.45503	D	AEFDBCIJ	0.710376	0.66416	D	-0.0444763898798249	0.39850	2.356758	0.165108397616654	0.47949	3.017537	0.99999999913484	0.74766	0.634777	0.41761	0	0.581341	0.33841	0	0.643519	0.47002	0	0.00508	0.00061	3	.	.	5.48	5.48	0.80675	4.274000	0.58717	6.011000	0.52645	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.0:0.9233:0.0:0.0767	12.661	0.56174	309	0.87553	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	595.98	34	chr16	18798007	.	C	T	595.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.81;DP=719;ExcessHet=0.0000;FS=1.064;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=-3.690e-01;SOR=0.874	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1065	20	0	1	0
chr16	19449566	19449566	G	A	exonic	TMC5	.	nonsynonymous SNV	TMC5:NM_001105248:exon5:c.G983A:p.S328N	.	.	415	1100	7	0	0	7	0.00317173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.003	B	0.004	B	0.026	N	1.000	N	1.355	L	0.68	T	-1.095	T	0.036	T	0.017	2.254	13.49	-3.66	-0.757	0.163	3.478	0.053	.	0.0089	0.00758786	0.0027	0.0292	0.0013	0.0001	0	0.0003	0.0011	0.0002	0.0025744	398	154602	rs16972013	0.0010	0.0010	0.0012	0.0009	0.0291	0.0010	0.0010	0.0276	0.0270	0.0291	0.0018	0	2.519e-05	1.872e-05	0.0042	0.0002	0.0024	0.0002	0.0075	0.0076	0.0078	0.0073	0.0258	0.0072	0.0070	0.0245	0.0240	0.0258	0	0.0033	0	0	0	0.0068	0.0002	0.0047	0.0002	0.295	0.15823	T	0.49	0.11586	T	0.003	0.11197	B	0.004	0.10090	B	0.025692	0.01635	N	2.081900	1	0.08975	N	1.295	0.32453	L	0.68	0.51952	T	-0.48	0.17624	N	0.064	0.03956	-1.0948	0.04781	T	0.036	0.15378	T	10	0.0033977926	0.00059	T	.	.	.	0.053	0.14996	.	.	0.367992661779	0.36405	0.05799410891670901	0.05740	0.144701793676	0.16347	0.28974956274	0.08886	T	0.003812	0.03222	T	-0.67813	0.00049	T	-0.725913	0.04514	T	0.000634695721861894	0.00006	T	0.547445	0.18775	T	0.04238265	0.06417	0.04713559	0.06722	0.04238265	0.06417	0.04713559	0.06722	-4.057	0.24861	T	.	.	0.088	0.11606	B	.;.;.;.	.;.;.;.	0.643420	0.10120	6.864	0.93918325792765689	0.23958	0.01820	0.05660	N	AEFDBI	0.053215	0.09570	N	-1.03064521587653	0.07972	0.3722195	-1.10798732056472	0.07547	0.3675024	0.14755346708824	0.17385	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.71	-3.66	0.04200	0.177000	0.16615	1.384000	0.26059	0.650000	0.52971	0.000000	0.06391	0.001000	0.17328	0.062000	0.16114	0.3939:0.0:0.2697:0.3364	3.478	0.07157	692	0.58729	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2343.98	38	chr16	19449566	.	G	A	2343.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.382;DP=1025;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=-6.990e-01;SOR=0.719	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr16	19517123	19517123	A	T	exonic	GDE1	.	nonsynonymous SNV	GDE1:NM_001324067:exon2:c.T328A:p.L110I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.997	D	0.936	D	0.000	D	1.000	D	1.615	L	2.74	T	-1.010	T	0.046	T	0.59	4.128	21.3	-1.43	-0.170	2.547	5.955	0.164	0.0107725703373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.17940	T	0.394	0.16134	T	0.997	0.70673	D	0.936	0.67150	D	0.000023	0.55875	D	0.072360	0.999967	0.52935	D	1.795	0.47270	L	2.74	0.11730	T	-0.82	0.22508	N	0.65	0.66101	-1.0103	0.26823	T	0.046	0.19599	T	10	0.2042628	0.36611	T	0.010773	0.27684	T	0.164	0.42212	0.423	0.46693	0.243398259712	0.23965	0.5995511248690478	0.59886	0.576595669061	0.53609	0.588236689568	0.51246	T	0.046361	0.27401	T	-0.116669	0.33668	T	-0.405363	0.32762	T	0.73680567741394	0.42567	D	0.993001	0.97720	D	0.07589895	0.17130	0.08683221	0.20142	0.07589895	0.17130	0.08683221	0.20142	-5.912	0.45537	T	.	.	0.162	0.42022	B	.;.	.;.	2.610663	0.33905	19.48	0.99279897941227757	0.57869	0.87761	0.47411	D	AEGBI	0.122306	0.23738	N	0.0990174825626285	0.46416	2.882328	0.0325277652112002	0.41236	2.473956	0.999940314522624	0.47345	0.706548	0.73137	0	0.581341	0.33841	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.56	-1.43	0.08418	2.592000	0.45836	0.643000	0.20338	0.756000	0.94297	1.000000	0.71638	0.911000	0.28135	0.998000	0.85391	0.3679:0.0:0.4891:0.143	5.955	0.18506	464	0.78488	Glycerophosphodiester phosphodiesterase domain|Glycerophosphodiester phosphodiesterase domain;Glycerophosphodiester phosphodiesterase domain|Glycerophosphodiester phosphodiesterase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2267.98	33	chr16	19517123	.	A	T	2267.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=913;ExcessHet=0.0000;FS=2.380;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.70;ReadPosRankSum=-7.070e-01;SOR=0.863	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1620	20	0	1	0
chr16	19536405	19536405	C	T	exonic	CCP110	.	nonsynonymous SNV	CCP110:NM_001199022:exon4:c.C736T:p.R246C	.	.	428	1087	7	0	0	7	0.00320954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.963	D	0.000	D	1.000	D	1.795	L	2.08	T	-0.979	T	0.120	T	0.52	2.484	14.27	4.93	1.463	1.597	15.424	0.148	0.020678641117	.	.	0.0001	0.0002	0	0.0001	0	0.0001	0.0011	0.0002	0.0001035	16	154602	rs775264049	9.04e-05	9.03e-05	9.131e-05	8.948e-05	0.0036	7.765e-05	7.308e-05	0.0024	0.0021	0.0002	4.473e-05	0	7.559e-05	1.892e-05	0.0036	6.121e-05	0.0002	0.0002	9.204e-05	9.195e-05	0.0001	5.385e-05	0.0002	5.531e-05	4.367e-05	9.573e-05	6.968e-05	0.0002	0	0	0	0	0	0	7.351e-05	0	0.0002	0.015	0.52492	D	0.006	0.70582	D	1.0	0.90584	D	0.963	0.70837	D	0.000104	0.50451	D	0.169510	0.999982	0.54805	D	2.78	0.81115	M	2.07	0.20387	T	-2.68	0.57275	D	0.164	0.17278	-0.9786	0.35322	T	0.120	0.41929	T	10	0.16744801	0.31240	T	0.020679	0.43322	T	0.148	0.39182	0.291	0.25241	0.28722502521	0.28325	0.14128450645975815	0.14051	0.640609023037	0.57690	0.217453151941	0.01168	T	0.222745	0.58668	T	-0.302517	0.08424	T	-0.366345	0.37316	T	0.34192368388176	0.26700	T	0.816218	0.47186	T	0.13546644	0.31438	0.0878602	0.20448	0.13546644	0.31438	0.0878602	0.20447	-5.291	0.39854	T	.	.	0.096	0.19235	B	.;.;.	.;.;.	2.685429	0.35042	19.79	0.99892281098428948	0.96589	0.55656	0.29919	D	AEFBI	0.178381	0.30564	N	0.132819928554342	0.47999	3.017931	-0.00787226182681605	0.39358	2.332385	0.999997538239933	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.89	4.93	0.64394	1.646000	0.36865	-0.305000	0.10084	-0.171000	0.11205	0.135000	0.23427	0.000000	0.08366	0.190000	0.21601	0.0:0.9328:0.0:0.0672	15.424	0.74765	449	0.79428	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1270.98	35	chr16	19536405	.	C	T	1270.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.854;DP=957;ExcessHet=0.0000;FS=4.499;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.50;ReadPosRankSum=1.36;SOR=0.471	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1100	20	0	1	0
chr16	20341254	20341254	A	G	exonic	UMOD	.	nonsynonymous SNV	UMOD:NM_001008389:exon7:c.T1414C:p.Y472H	Glomerulocystic kidney disease with hyperuricemia and isosthenuria;Hyperuricemic nephropathy, familial juvenile 1, Autosomal dominant;Medullary cystic kidney disease 2	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.179	B	0.33	B	0.038	N	0.946	N	2.36	M	-1.72	D	-0.151	T	0.571	D	0.27	2.644	14.80	4.22	0.916	4.897	9.917	0.424	0.0476934600087	.	.	8.241e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs770836612	6.156e-06	6.156e-06	1.361e-06	1.1e-05	3.478e-05	2.9e-06	2.1e-06	9.24e-06	4.56e-06	0	2.236e-05	0	0	0	0	2.698e-06	3.311e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.041	0.52389	D	0.179	0.28995	B	0.33	0.42079	B	0.038447	0.24284	N	0.298098	0.945839	0.26649	N	1.855	0.49169	L	-1.72	0.83241	D	-4.46	0.77798	D	0.328	0.37509	-0.1515	0.78879	T	0.571	0.84485	D	10	0.33434564	0.50610	T	0.047693	0.63038	D	0.424	0.73226	0.622	0.75690	0.654990179022	0.65211	0.7808967824336024	0.78040	0.20091022214	0.22489	0.45893651247	0.33164	T	.	.	.	-0.151333	0.28104	T	-0.273628	0.47451	T	0.760076880455017	0.43855	D	0.727427	0.34191	T	0.58817655	0.72052	0.38898283	0.63729	0.58817655	0.72053	0.38898283	0.63729	-9.194	0.68937	D	0.6420018679419429	0.71286	0.288	0.60166	B	.;.;.;.	.;.;.;.	3.394880	0.47017	22.4	0.99396951959911706	0.62610	0.91752	0.54188	D	AEFDBI	0.675921	0.64114	D	0.077402454620751	0.45409	2.798004	0.158699517667587	0.47605	2.988222	0.00888125254026803	0.11759	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.34	4.22	0.49153	3.246000	0.51115	7.881000	0.72509	0.756000	0.94297	0.988000	0.36536	1.000000	0.68203	0.971000	0.54645	0.9172:0.0:0.0828:0.0	9.917	0.40608	845	0.36510	.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1836.98	51	chr16	20341254	.	A	G	1836.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.72;DP=1051;ExcessHet=0.0000;FS=3.583;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.50;ReadPosRankSum=-1.360e+00;SOR=1.006	GT:AD:DP:GQ:PL	0/1:106,69:175:99:1851,0,2889	20	0	1	0
chr16	20346184	20346184	C	T	exonic	UMOD	.	nonsynonymous SNV	UMOD:NM_001008389:exon5:c.G1124A:p.R375Q	Glomerulocystic kidney disease with hyperuricemia and isosthenuria;Hyperuricemic nephropathy, familial juvenile 1, Autosomal dominant;Medullary cystic kidney disease 2	.	0	1506	16	0	0	16	0.00528402	.	.	703545	Familial_juvenile_hyperuricemic_nephropathy_type_1|not_provided	MONDO:MONDO:0008073,MedGen:C4551496,OMIM:162000,Orphanet:209886,Orphanet:34149,Orphanet:88950|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.22	T	0.393	B	0.05	B	0.052	N	1.000	N	1.245	L	-1.59	D	-0.835	T	0.238	T	0.133	0.478	6.595	0.019	0.111	0.452	7.712	0.097	0.0683601995499	0.0005	0.00139776	0.0008	0	0.0003	0	0	0.0003	0.0066	0.0036	0.0006727	104	154602	rs151061376	0.0005	0.0005	0.0004	0.0006	0.0056	0.0004	0.0004	0.0040	0.0035	0.0001	0.0010	0.0013	0	0	0.0056	0.0003	0.0006	0.0029	0.0003	0.0003	0.0003	0.0003	0.0023	0.0002	0.0002	0.0013	0.0010	4.808e-05	0	0.0005	0.0026	0	0	0.0034	0.0002	0.0014	0.0023	0.253	0.20381	T	0.292	0.24264	T	0.104	0.25941	B	0.036	0.22909	B	0.051904	0.22940	N	0.309092	0.99997	0.18612	N	0.625	0.15840	N	-1.59	0.82076	D	-0.35	0.12847	N	0.172	0.24260	-0.8347	0.52996	T	0.238	0.60559	T	10	0.010872722	0.00240	T	0.06836	0.70429	D	0.097	0.27909	.	.	0.372993862945	0.36913	0.42573792019316464	0.42490	0.145579570331	0.16448	0.268536508083	0.05950	T	.	.	.	-0.440334	0.01288	T	-0.408336	0.32417	T	0.0150915128853855	0.00327	T	0.644935	0.25655	T	0.07107321	0.15706	0.06944995	0.14635	0.07107321	0.15706	0.06944995	0.14634	-2.481	0.05653	T	0.13877010277427015	0.15383	0.088	0.11845	B	.;.;.;.	.;.;.;.	2.229180	0.28453	17.80	0.94449044805868143	0.24878	0.04307	0.09857	N	AEFBI	0.078467	0.15833	N	-0.66869644954916	0.16917	0.8661519	-0.680521341231634	0.17448	0.9278165	1.16367304598893E-5	0.02871	0.569682	0.32691	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	4.85	0.019	0.13439	0.471000	0.21811	0.819000	0.21831	0.549000	0.26987	0.984000	0.35821	0.017000	0.20586	0.122000	0.19250	0.0:0.5681:0.0:0.4319	7.712	0.27847	840	0.37365	.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1876.98	33	chr16	20346184	.	C	T	1876.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.159;DP=853;ExcessHet=0.0000;FS=2.041;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=0.217;SOR=0.520	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1365	20	0	1	0
chr16	20348876	20348876	C	T	exonic	UMOD	.	nonsynonymous SNV	UMOD:NM_001008389:exon3:c.G425A:p.R142Q	Glomerulocystic kidney disease with hyperuricemia and isosthenuria;Hyperuricemic nephropathy, familial juvenile 1, Autosomal dominant;Medullary cystic kidney disease 2	.	2	1477	40	3	0	46	0.0153333	.	.	334154	Kidney_disorder|UMOD-related_disorder|not_provided|Familial_juvenile_hyperuricemic_nephropathy_type_1	Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658|.|MedGen:C3661900|MONDO:MONDO:0008073,MedGen:C4551496,OMIM:162000,Orphanet:209886,Orphanet:34149,Orphanet:88950	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.3	T	0.126	B	0.041	B	0.000	N	1.000	N	0.645	N	-2.22	D	-0.568	T	0.422	T	0.159	1.322	10.34	-10.9	-3.595	-2.158	16.367	0.231	.	0.0005	0.00579073	0.0196	0.0006	0.0031	0.0023	0	0.0049	0	0.0372	0.0035122	543	154602	rs199835347	0.0031	0.0031	0.0022	0.0041	0.0346	0.0030	0.0030	0.0336	0.0331	0.0004	0.0006	0.0070	0.0008	2.154e-05	0.0049	0.0010	0.0033	0.0346	0.0017	0.0017	0.0013	0.0021	0.0296	0.0015	0.0015	0.0256	0.0241	0.0003	0	0.0007	0.0078	0.0010	0	0.0034	0.0009	0.0009	0.0296	0.297	0.14694	T	0.689	0.07244	T	0.007	0.14184	B	0.014	0.16862	B	0.000035	0.00348	N	4.838660	1	0.08975	N	0.46	0.12951	N	-2.22	0.91748	D	-0.15	0.09297	N	0.185	0.20129	-0.5677	0.66107	T	0.422	0.76704	T	10	0.004166931	0.00082	T	.	.	.	0.231	0.53208	.	.	0.0138822411134	0.00435	0.797193741351274	0.79672	1.03768003082	0.75667	0.197835445404	0.00396	T	.	.	.	-0.436857	0.01350	T	-0.374529	0.36360	T	0.0074865864671816	0.00086	T	0.915608	0.69895	D	0.030351104	0.02682	0.051519576	0.08307	0.031283624	0.02939	0.05204987	0.08500	-3.822	0.21134	T	.	.	0.072	0.04316	B	.;.;.;.	.;.;.;.	0.105025	0.05059	1.600	0.87211629175898653	0.17067	0.03428	0.08560	N	AEFDBCI	0.084496	0.17125	N	-1.67094729539648	0.00950	0.04114479	-1.78942199120481	0.00794	0.03541693	0.99999985470132	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.596394	0.31383	0	0.584449	0.35598	0	.	.	5.45	-10.9	0.00151	-3.185000	0.00626	-4.870000	0.01948	-0.221000	0.07976	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.734:0.0962:0.1697:0.0	16.367	0.83171	829	0.39537	.;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1416.98	89	chr16	20348876	.	C	T	1416.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.170e-01;DP=897;ExcessHet=0.0000;FS=2.845;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.92;ReadPosRankSum=-7.700e-01;SOR=0.564	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr16	20349827	20349827	G	A	exonic	UMOD	.	nonsynonymous SNV	UMOD:NM_001278614:exon3:c.C131T:p.P44L,	Glomerulocystic kidney disease with hyperuricemia and isosthenuria;Hyperuricemic nephropathy, familial juvenile 1, Autosomal dominant;Medullary cystic kidney disease 2	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.0	B	0.0	B	.	.	1.000	N	.	.	-1.46	T	-0.931	T	0.092	T	0.119	0.632	7.398	0.656	0.100	-0.128	4.735	0.120	.	.	0.00698882	0.0013	0.0011	0	0.0391	0	0.0002	0	0	0.0005175	80	154602	rs117607957	0.0007	0.0006	0.0007	0.0006	0.0208	0.0006	0.0006	0.0195	0.0190	3.167e-05	5.607e-05	0	0.0208	0	0.0004	4.357e-05	0.0018	0.0002	0.0011	0.0011	0.0010	0.0011	0.0285	0.0009	0.0009	0.0247	0.0233	7.255e-05	0	6.569e-05	0	0.0285	0	0	2.944e-05	0.0019	0.0006	0.122	0.27663	T	0.597	0.46182	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.46	0.80983	T	0.29	0.04161	N	0.096	0.07673	-0.9310	0.43992	T	0.092	0.35201	T	8	0.0043028593	0.00087	T	.	.	.	0.120	0.33359	.	.	0.166414681773	0.16258	0.8716339494888922	0.87129	.	.	.	.	.	0.015445	0.12953	T	-0.497986	0.00587	T	-0.465102	0.26046	T	0.00349271048103764	0.00037	T	0.49875	0.16021	T	.	.	.	.	.	.	.	.	-3.058	0.10820	T	.	.	0.099	0.58733	B	.;.;.	.;.;.	0.363606	0.07360	3.982	0.55140006494829075	0.05281	0.00469	0.02250	N	AEFDBHCI	0.021002	0.00889	N	-1.09689996765459	0.06700	0.3091719	-1.18203068929603	0.06210	0.298187	0.0106054159611228	0.12052	0.525926	0.21836	0	0.615948	0.52940	0	0.596394	0.31383	0	0.584449	0.35598	0	.	.	3.15	0.656	0.17016	-0.135000	0.10399	1.232000	0.25050	-0.118000	0.14412	0.000000	0.06391	0.005000	0.19230	0.001000	0.02609	0.6089:0.0:0.3911:0.0	4.735	0.12360	830	0.39242	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	898.98	38	chr16	20349827	.	G	A	898.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.012;DP=835;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=0.703;SOR=0.809	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr16	20359422	20359422	G	A	exonic	PDILT	.	nonsynonymous SNV	PDILT:NM_174924:exon12:c.C1652T:p.P551L,	.	.	414	1106	2	0	0	2	0.000903342	.	.	3371913	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.0	B	0.001	B	0.014	N	1.000	N	0.55	N	4.07	T	-0.986	T	0.012	T	0.106	1.659	11.51	3.45	1.184	0.296	8.797	0.038	0.00413998775637	.	0.000199681	0.0002	0	0	0	0	1.498e-05	0	0.0013	0.0001488	23	154602	rs535617333	8.14e-05	8.14e-05	3.539e-05	0.0001	0.0012	6.934e-05	6.486e-05	0.0010	0.0010	0	2.236e-05	0	0	0	0.0003	8.093e-06	3.311e-05	0.0012	4.599e-05	4.594e-05	3.856e-05	5.377e-05	0.0006	2.109e-05	1.527e-05	0.0002	9e-05	7.225e-05	0	0	0	0	0	0	1.47e-05	0	0.0006	0.125	0.27310	T	0.0	0.92824	D	0.0	0.02946	B	0.001	0.04355	B	0.014018	0.01379	N	2.860490	1	0.08975	N	1.195	0.30194	L	4.07	0.03033	T	-0.89	0.24026	N	0.125	0.11769	-0.9858	0.33639	T	0.012	0.04416	T	10	0.012921512	0.00276	T	0.00414	0.09931	T	0.038	0.09825	0.331	0.31681	0.253726318573	0.24972	0.14966853257757162	0.14888	0.120603467503	0.13580	0.277751207352	0.07181	T	8.72E-4	0.00441	T	-0.642949	0.00080	T	-0.736861	0.04024	T	0.0411544616252675	0.03900	T	0.442956	0.12306	T	0.043231282	0.06699	0.04274188	0.05158	0.043231282	0.06698	0.04274188	0.05158	-2.883	0.08974	T	.	.	0.074	0.05017	B	.	.	0.536635	0.09050	5.835	0.76480555946785378	0.11485	0.03097	0.08025	N	AEFBI	0.034620	0.04320	N	-0.836655253997028	0.12381	0.6031417	-0.82753679472843	0.13829	0.7194963	1.57280517104515E-4	0.05650	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.42	3.45	0.38602	0.305000	0.19006	1.250000	0.25164	0.601000	0.45875	0.000000	0.06391	0.001000	0.17328	0.003000	0.05239	0.1055:0.0:0.8945:0.0	8.797	0.34047	758	0.50837	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2185.98	33	chr16	20359422	.	G	A	2185.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.91;DP=858;ExcessHet=0.0000;FS=3.511;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=-1.246e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/1:89,83:172:99:2200,0,2152	20	0	1	0
chr16	20384837	20384837	T	C	exonic	PDILT	.	nonsynonymous SNV	PDILT:NM_174924:exon3:c.A217G:p.K73E,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.959	D	0.718	P	0.003	N	1.000	N	1.5	L	4.0	T	-1.049	T	0.018	T	0.445	2.105	12.99	3.17	0.495	0.986	7.110	0.089	0.00316943343908	0.0002	.	0.0002	0	0	0	0	0.0002	0.0011	0.0007	0.0001488	23	154602	rs146719463	0.0002	0.0002	0.0002	0.0002	0.0023	0.0002	0.0002	0.0013	0.0011	2.987e-05	4.472e-05	0	0	0	0.0023	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	9.4e-05	0.0008	7.086e-05	5.744e-05	0.0003	0.0002	2.407e-05	0	0	0	0	0	0	0.0002	0	0.0008	0.019	0.50132	D	0.163	0.31125	T	0.959	0.55135	D	0.718	0.54779	P	0.003305	0.35125	N	0.313542	1	0.08975	N	1.61	0.41143	L	4.0	0.13434	T	-0.67	0.19297	N	0.301	0.34012	-1.0492	0.14621	T	0.018	0.07612	T	10	0.044784635	0.03475	T	0.003169	0.06936	T	0.089	0.25827	.	.	0.256283259241	0.25257	0.45274535624881207	0.45192	0.157787249233	0.17821	0.430652797222	0.29297	T	5.49E-4	0.24567	T	-0.383534	0.02959	T	-0.424533	0.30557	T	0.0700232070453048	0.08654	T	0.60154	0.22486	T	0.20148239	0.42160	0.28050655	0.54026	0.20148239	0.42160	0.28050655	0.54025	-2.669	0.07046	T	.	.	0.117	0.43855	B	.;.	.;.	2.467791	0.31802	18.85	0.9959052626606284	0.73572	0.05012	0.10790	N	AEFBI	0.050375	0.08799	N	-0.173012869334018	0.34262	1.953457	-0.320193573005895	0.27446	1.523074	0.637372319325609	0.22022	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.43	3.17	0.35510	0.996000	0.29320	1.788000	0.28774	0.665000	0.62972	0.135000	0.23427	0.989000	0.31174	0.833000	0.39279	0.0:0.1758:0.0:0.8242	7.110	0.24561	809	0.43032	Thioredoxin domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1474.98	37	chr16	20384837	.	T	C	1474.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.27;DP=805;ExcessHet=0.0000;FS=6.365;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.46;ReadPosRankSum=-8.630e-01;SOR=1.311	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1259	20	0	1	0
chr16	20423939	20423939	C	T	exonic	ACSM5	.	nonsynonymous SNV	ACSM5:NM_001324371:exon6:c.C791T:p.S264F	.	.	431	1080	11	0	0	11	0.00506679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.984	D	0.003	N	1.000	N	1.76	L	0.69	T	-0.747	T	0.260	T	0.437	2.348	13.81	4.56	2.338	0.910	17.122	0.248	.	.	0.0103834	0.0051	0	0.0003	0.0006	0.0002	4.498e-05	0.0077	0.0365	0.0044566	689	154602	rs200180792	0.0022	0.0022	0.0012	0.0033	0.0351	0.0022	0.0021	0.0341	0.0337	0.0002	0.0002	0	0.0003	5.616e-05	0.0010	2.698e-05	0.0028	0.0351	0.0012	0.0013	0.0007	0.0019	0.0376	0.0011	0.0010	0.0331	0.0314	2.406e-05	0	0	0	0.0008	0	0	0	0.0019	0.0376	0.001	0.78490	D	0.004	0.74150	D	0.998	0.73220	D	0.984	0.76113	D	0.003156	0.35359	N	0.129596	0.999978	0.18612	N	3.51	0.92865	H	0.69	0.51714	T	-4.77	0.80425	D	0.551	0.57690	-0.7470	0.58092	T	0.260	0.63055	T	10	0.011149079	0.00245	T	.	.	.	0.248	0.55615	.	.	0.727048445308	0.72462	0.44911221308152977	0.44829	0.639214891415	0.57598	0.52651488781	0.42544	T	0.036553	0.24145	T	-0.379656	0.03132	T	-0.292363	0.45526	T	0.124570204253232	0.14871	T	0.906909	0.67118	D	0.6458907	0.75144	0.64319664	0.79147	0.6458907	0.75146	0.64319664	0.79148	-11.097	0.80187	D	.	.	0.197	0.41932	B	.	.	2.681005	0.34976	19.77	0.99756072813339469	0.84694	0.07276	0.13299	N	AEFBI	0.370420	0.45680	N	0.110406913369033	0.46948	2.927454	-0.0633629230332853	0.36918	2.154715	0.976711582793075	0.29751	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.56	4.56	0.55644	1.482000	0.35094	0.394000	0.17923	0.599000	0.40250	0.019000	0.19563	0.000000	0.08366	0.104000	0.18471	0.0:1.0:0.0:0.0	17.122	0.86581	809	0.43032	AMP-dependent synthetase/ligase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2560.98	231	chr16	20423939	.	C	T	2560.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.34;DP=930;ExcessHet=0.0000;FS=0.490;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.99;MQRankSum=0.00;QD=11.09;ReadPosRankSum=0.089;SOR=0.754	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1299	20	0	1	0
chr16	20437089	20437089	A	G	exonic	ACSM5	.	nonsynonymous SNV	ACSM5:NM_001324371:exon11:c.A1346G:p.D449G	.	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.029	B	0.079	B	0.020	N	1.000	D	0.715	N	1.38	T	-1.045	T	0.044	T	0.611	2.049	12.81	2.84	0.370	3.129	9.854	0.184	.	0.0011	.	0.0038	0.0034	0.0008	0.0113	0.0002	0.0003	0.0077	0.0178	0.0030401	470	154602	rs143897478	0.0009	0.0017	0.0008	0.0011	0.0162	0.0009	0.0009	0.0152	0.0148	0.0025	0.0004	7.652e-05	0.0162	1.872e-05	0.0007	9.714e-05	0.0010	0.0053	0.0014	0.0016	0.0015	0.0014	0.0110	0.0013	0.0012	0.0087	0.0079	0.0030	0	0.0003	0	0.0110	0	0	0.0002	0.0024	0.0019	0.108	0.29420	T	0.277	0.21880	T	0.029	0.19866	B	0.079	0.28749	B	0.020077	0.27119	N	0.329627	0.783004	0.34291	D	0.475	0.13142	N	1.38	0.34050	T	-4.57	0.78721	D	0.658	0.66787	-1.0454	0.15709	T	0.044	0.18742	T	10	0.014943123	0.00314	T	.	.	.	0.184	0.45763	.	.	0.504175077286	0.50056	0.60700632225438	0.60632	0.203973378292	0.22813	0.314309775829	0.12558	T	0.030226	0.21474	T	-0.413685	0.01879	T	-0.356618	0.38443	T	0.0468691450115969	0.04942	T	0.614838	0.23473	T	0.24999443	0.47998	0.3071594	0.56738	0.24999443	0.47998	0.3071594	0.56738	-9.015	0.67794	D	.	.	0.096	0.15520	B	.	.	2.499548	0.32263	18.99	0.98386881180898544	0.40915	0.83270	0.42401	D	AEFDI	0.811243	0.73428	D	-0.31507499031754	0.28575	1.577248	-0.165998940396704	0.32798	1.869492	0.00448293407195422	0.10581	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.15	2.84	0.32241	3.685000	0.54410	3.727000	0.39605	0.754000	0.88378	1.000000	0.71638	0.218000	0.23694	0.963000	0.52385	0.8774:0.0:0.1226:0.0	9.854	0.40246	804	0.43891	AMP-dependent synthetase/ligase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	203.98	134	chr16	20437089	.	A	G	203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.948e+00;DP=1135;ExcessHet=0.0000;FS=4.593;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.72;MQRankSum=-7.234e+00;QD=1.52;ReadPosRankSum=2.53;SOR=0.307	GT:AD:DP:GQ:PL	0/0:72,0:72:99:0,120,1800	20	0	1	0
chr16	20471605	20471605	G	C	exonic	ACSM2A	.	nonsynonymous SNV	ACSM2A:NM_001308169:exon5:c.G573C:p.L191F	.	.	423	1090	9	0	0	9	0.00411147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.151	B	0.094	B	0.355	N	1.000	N	0.78	N	0.66	T	-1.028	T	0.076	T	0.234	0.183	4.987	-1.09	-0.452	-0.141	5.680	0.014	0.011491081462	0.0002	0.000998403	0.0009	0	0.0003	0	0.0012	0.0003	0.0022	0.0045	0.0007568	117	154602	rs147894332	0.0006	0.0006	0.0005	0.0008	0.0049	0.0006	0.0006	0.0045	0.0044	2.988e-05	0.0002	0.0003	0	0.0012	0.0012	0.0003	0.0007	0.0049	0.0005	0.0005	0.0004	0.0006	0.0037	0.0004	0.0004	0.0024	0.0020	7.22e-05	0	6.539e-05	0	0.0002	0.0021	0.0034	0.0004	0.0009	0.0037	0.208	0.19782	T	0.169	0.30534	T	0.073	0.24078	B	0.089	0.29769	B	0.355113	0.13755	N	0.534240	1	0.08975	N	1.71	0.44315	L	0.66	0.52416	T	-0.14	0.15178	N	0.141	0.14054	-1.0278	0.21168	T	0.076	0.30492	T	10	0.0040208995	0.00078	T	0.011491	0.29167	T	0.014	0.01968	0.568	0.69034	0.166414681773	0.16258	0.37622368379413373	0.37536	0.814576588463	0.66882	0.32591176033	0.14316	T	0.009322	0.08490	T	-0.535727	0.00355	T	-0.542318	0.18069	T	0.011539095449914	0.00174	T	0.410559	0.10607	T	0.25579733	0.48616	0.09188482	0.21627	0.25579733	0.48616	0.09188482	0.21626	-3.35	0.14391	T	.	.	0.202	0.42664	B	.;.;.;.;.	.;.;.;.;.	-0.257318	0.02810	0.387	0.49995887100704056	0.04307	0.04548	0.10186	N	AEFDI	0.506943	0.53745	D	-1.28369399443749	0.03871	0.1737353	-1.36536622377033	0.03628	0.1696218	1.92427178571221E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.51	-1.09	0.09397	0.296000	0.18839	-0.670000	0.07939	-0.124000	0.13482	0.005000	0.17040	0.000000	0.08366	0.000000	0.00833	0.1957:0.0:0.6514:0.1529	5.680	0.17042	788	0.46569	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3357.98	41	chr16	20471605	.	G	C	3357.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.800e-02;DP=1000;ExcessHet=0.0000;FS=0.468;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.11;MQRankSum=1.44;QD=13.93;ReadPosRankSum=-4.300e-02;SOR=0.731	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1453	20	0	1	0
chr16	20548404	20548404	C	T	exonic	ACSM2B	.	nonsynonymous SNV	ACSM2B:NM_001105069:exon7:c.G964A:p.D322N	.	.	413	1093	14	2	0	18	0.00816697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.066	B	0.046	B	0.005	N	1.000	D	1.875	L	1.02	T	-1.008	T	0.072	T	0.029	3.468	17.75	3.61	2.006	2.341	8.555	0.107	.	0.0081	0.00279553	0.0069	0.0018	0.0061	0	0.0029	0.0096	0.0077	0.0047	0.0068498	1059	154602	rs138313532	0.0089	0.0089	0.0088	0.0090	0.0102	0.0087	0.0087	0.0100	0.0100	0.0019	0.0062	0.0052	5.038e-05	0.0042	0.0085	0.0102	0.0084	0.0043	0.0072	0.0072	0.0077	0.0068	0.0116	0.0069	0.0067	0.0102	0.0099	0.0021	0	0.0116	0.0049	0.0002	0.0033	0.0340	0.0108	0.0099	0.0031	0.108	0.31532	T	0.103	0.42086	T	0.066	0.23586	B	0.046	0.24676	B	0.004552	0.33627	N	0.133616	0.684231	0.30250	N	2.015	0.55033	M	1.02	0.40749	T	-3.04	0.62863	D	0.297	0.39558	-1.0081	0.27510	T	0.072	0.29387	T	10	0.00947082	0.00214	T	.	.	.	0.107	0.30369	.	.	0.502379540653	0.49875	0.337674247997547	0.33680	0.994442852955	0.74171	0.495998859406	0.38270	T	0.048547	0.28050	T	-0.642216	0.00081	T	-0.68588	0.06631	T	0.018477831571885	0.00563	T	0.886711	0.61387	D	0.15227015	0.34575	0.1588701	0.37079	0.15227015	0.34574	0.1588701	0.37078	-4.675	0.33100	T	.	.	0.114	0.27009	B	.;.;.;.;.;.	.;.;.;.;.;.	2.703459	0.35316	19.87	0.99540422647190474	0.70461	0.72619	0.35538	D	AEFGI	0.368987	0.45589	N	-0.0980886096361625	0.37475	2.180818	-0.0177576955527576	0.38912	2.299463	2.20696107365394E-4	0.05997	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.61	3.61	0.40494	2.268000	0.42996	1.982000	0.30038	0.413000	0.20698	0.994000	0.38300	0.946000	0.28899	0.760000	0.36145	0.0:0.8883:0.0:0.1116	8.555	0.32637	754	0.51307	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1823.98	36	chr16	20548404	.	C	T	1823.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.240e-01;DP=784;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=44.10;MQRankSum=-3.239e+00;QD=17.54;ReadPosRankSum=-3.110e-01;SOR=0.654	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1314	20	0	1	0
chr16	20952510	20952510	C	T	exonic	DNAH3	.	nonsynonymous SNV	DNAH3:NM_001347886:exon56:c.G10973A:p.R3658K	.	.	420	1083	18	1	0	20	0.00914913	.	.	703557	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.19	T	0.785	P	0.3	B	0.000	D	1.000	D	2.095	M	2.99	T	-1.140	T	0.030	T	0.226	3.891	19.78	5.49	2.727	4.563	19.731	0.210	.	0.0077	0.00339457	0.0057	0.0024	0.0055	0	0.0009	0.0088	0.0088	0.0004	0.0055303	855	154602	rs147732992	0.0081	0.0082	0.0084	0.0079	0.0149	0.0080	0.0080	0.0124	0.0114	0.0018	0.0060	0.0019	0	0.0010	0.0149	0.0098	0.0075	0.0004	0.0062	0.0062	0.0064	0.0059	0.0109	0.0058	0.0057	0.0096	0.0091	0.0019	0.0044	0.0109	0.0020	0	0.0008	0.0272	0.0095	0.0080	0.0002	0.006	0.61437	D	.	.	.	0.785	0.44430	P	0.3	0.41053	B	0.000001	0.84330	D	0.053272	0.999022	0.81001	D	2.075	0.57047	M	2.99	0.09262	T	-2.64	0.56630	D	0.665	0.67391	-1.1398	0.01365	T	0.030	0.12717	T	10	0.014439553	0.00304	T	.	.	.	0.210	0.50028	.	.	0.208816687407	0.20498	0.7301001046791413	0.72955	0.139739287573	0.15750	0.568034887314	0.48400	T	0.152099	0.49235	T	-0.538481	0.00342	T	-0.535236	0.18767	T	0.0342216101493965	0.02675	T	0.923008	0.71997	D	0.77575535	0.82394	0.6444966	0.79219	0.77575535	0.82396	0.6444966	0.79219	-6.516	0.50410	T	.	.	0.184	0.39932	B	.	.	3.779320	0.54333	23.5	0.98793029931682452	0.46317	0.96127	0.67656	D	AEFDGBHIJ	0.682546	0.64553	D	0.455709855517706	0.64529	4.709317	0.522750183453901	0.69525	5.372657	0.999999874169719	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.49	5.49	0.81022	4.650000	0.61136	7.690000	0.65738	0.599000	0.40250	0.986000	0.36153	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.731	0.96177	313	0.87327	Dynein heavy chain domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1049.98	36	chr16	20952510	.	C	T	1049.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.038e+00;DP=835;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.05;ReadPosRankSum=1.77;SOR=0.730	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1168	20	0	1	0
chr16	20954846	20954846	C	A	exonic	DNAH3	.	nonsynonymous SNV	DNAH3:NM_001347886:exon55:c.G10900T:p.V3634F	.	.	435	1060	26	1	0	28	0.0130354	.	.	2807702	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.601	P	0.127	B	0.002	N	0.964	D	2.405	M	2.52	T	-1.096	T	0.023	T	0.538	2.082	12.92	0.641	-0.158	0.459	6.173	0.205	.	0.0039	0.00259585	0.0060	0.0005	0.0019	0	0.0159	0.0076	0.0077	0.0052	0.0057373	887	154602	rs142557616	0.0055	0.0055	0.0054	0.0056	0.0053	0.0054	0.0054	0.0052	0.0051	0.0008	0.0026	0.0184	2.519e-05	0.0157	0.0052	0.0053	0.0064	0.0042	0.0051	0.0051	0.0051	0.0051	0.0062	0.0048	0.0047	0.0054	0.0053	0.0008	0	0.0027	0.0199	0.0002	0.0170	0.0034	0.0059	0.0066	0.0062	0.006	0.61437	D	.	.	.	0.601	0.39346	P	0.127	0.32738	B	0.001555	0.38671	N	0.227292	0.964236	0.38395	D	1.41	0.35535	L	2.52	0.14160	T	-2.01	0.46337	N	0.647	0.65844	-1.0959	0.04625	T	0.023	0.09923	T	10	0.0120690465	0.00261	T	.	.	.	0.205	0.49236	.	.	0.16115917748	0.15686	0.7348702395358523	0.73432	0.286386344799	0.31034	0.372315108776	0.21163	T	0.152177	0.49245	T	-0.485884	0.00685	T	-0.467129	0.25825	T	0.0234940818097939	0.01082	T	0.946405	0.79487	D	0.23149152	0.45922	0.14726968	0.34859	0.23149152	0.45922	0.14726968	0.34858	-9.742	0.72353	D	.	.	0.293	0.52459	B	.	.	1.539740	0.19747	14.42	0.97898622853992834	0.36724	0.53693	0.29433	D	AEFDBI	0.083671	0.16952	N	-0.299059134737281	0.29184	1.616218	-0.31042462816223	0.27761	1.54275	0.999943699605368	0.47345	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.43	0.641	0.16930	0.474000	0.21858	-0.947000	0.06827	-0.153000	0.12021	0.711000	0.28732	0.002000	0.18203	0.972000	0.54974	0.0:0.3409:0.2323:0.4268	6.173	0.19644	344	0.85734	Dynein heavy chain domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4380.11	33	chr16	20954846	.	C	A	4380.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.98;DP=1050;ExcessHet=0.1072;FS=1.231;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=-2.390e-01;SOR=0.622	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1106	19	0	2	0
chr16	20963804	20963806	GTT	-	exonic	DNAH3	.	nonframeshift deletion	DNAH3:NM_001347886:exon53:c.9940_9942del:p.N3314del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-06	6.84e-06	2.722e-06	1.1e-05	1.159e-05	3.46e-06	2.52e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.093e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2378.94	35	chr16	20963803	.	CGTT	C	2378.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.240e-01;DP=1311;ExcessHet=0.0000;FS=1.396;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.02;ReadPosRankSum=0.988;SOR=0.862	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1239	20	0	1	0
chr16	20965411	20965411	C	A	exonic	DNAH3	.	nonsynonymous SNV	DNAH3:NM_001347886:exon53:c.G8335T:p.D2779Y	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	3.6	H	-1.51	D	0.753	D	0.781	D	0.91	3.350	17.28	5.76	2.739	7.794	19.977	0.799	0.300635223957	.	.	1.829e-05	0	0	0	0	3.149e-05	0	0	1.29e-05	2	154602	rs750816736	7.314e-06	6.84e-06	5.733e-06	8.961e-06	0.0004	3.7e-06	2.7e-06	6.801e-05	2.847e-05	0	0	0	0	0	0.0004	6.565e-06	0	1.425e-05	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	.	.	.	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.085	0.97236	H	-1.51	0.81399	D	-8.65	0.97547	D	0.901	0.90138	0.753	0.93827	D	0.781	0.92551	D	10	0.8893678	0.88275	D	0.300635	0.90870	D	0.799	0.93425	0.451	0.51285	0.474248596982	0.47055	0.6295028769481228	0.62884	0.54243724282	0.51356	0.79153072834	0.80676	T	0.686701	0.90853	D	0.310183	0.83759	D	0.389308	0.91756	D	0.994033992290497	0.85101	D	0.99525	0.98380	D	0.93372864	0.94611	0.9559031	0.98745	0.93372864	0.94612	0.9559031	0.98746	-13.452	0.91139	D	.	.	0.81	0.77754	P	.	.	4.488781	0.70096	25.5	0.9949085065438783	0.67460	0.98863	0.87857	D	AEFBI	0.928768	0.91348	D	0.977972064356615	0.95028	13.24454	0.901000714887218	0.95615	13.79467	0.999999999979402	0.74766	0.553676	0.25195	0	0.547309	0.14657	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.76	5.76	0.90726	7.905000	0.86479	7.699000	0.66186	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	19.977	0.97313	316	0.87161	Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1233.98	35	chr16	20965411	.	C	A	1233.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.569e+00;DP=867;ExcessHet=0.0000;FS=4.953;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=0.036;SOR=0.343	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1239	20	0	1	0
chr16	20969969	20969969	C	G	exonic	DNAH3	.	nonsynonymous SNV	DNAH3:NM_001347886:exon52:c.G8143C:p.A2715P	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.999	D	0.000	D	1.000	D	4.19	H	-1.41	T	0.835	D	0.819	D	0.724	4.286	22.4	5.84	2.788	5.670	20.201	0.556	0.0768449008193	.	.	5.77e-05	0	0	0	0	7.499e-05	0	0.0001	5.17e-05	8	154602	rs370489380	2.463e-05	2.463e-05	1.77e-05	3.163e-05	0.0005	1.803e-05	1.6e-05	0.0001	7.544e-05	0	0	0	0	0	0.0005	2.068e-05	3.311e-05	9.275e-05	4.599e-05	4.596e-05	5.137e-05	4.035e-05	7.348e-05	2.109e-05	1.527e-05	2.846e-05	1.858e-05	2.412e-05	0	6.542e-05	0	0	0	0	7.348e-05	0	0	0.003	0.68238	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.025	0.96902	H	-1.41	0.80560	T	-4.62	0.79143	D	0.691	0.69649	0.835	0.94837	D	0.819	0.93912	D	10	0.8320776	0.82369	D	0.076845	0.72628	D	0.556	0.81717	0.339	0.32979	0.45470266194	0.45092	0.7852535246067591	0.78476	0.549024000067	0.51818	0.641664743423	0.58801	T	0.71419	0.91871	D	0.0325286	0.56059	T	0.0832483	0.75794	D	0.935841679573059	0.60438	D	0.988589	0.96114	D	0.978781	0.99015	0.948486	0.98307	0.978781	0.99015	0.948486	0.98308	-15.257	0.96427	D	.	.	0.984	0.92019	P	.	.	3.224095	0.43936	21.8	0.9969568987641525	0.80248	0.99486	0.96617	D	AEFBI	0.911350	0.87050	D	0.886812083709216	0.91099	10.71496	0.761818270081194	0.87038	9.085888	0.99999999999975	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.84	5.84	0.93373	5.742000	0.68284	5.891000	0.50761	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.095000	0.18041	0.0:1.0:0.0:0.0	20.201	0.98261	315	0.87208	Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	679.98	40	chr16	20969969	.	C	G	679.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.721e+00;DP=811;ExcessHet=0.0000;FS=1.088;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=-1.460e-01;SOR=0.515	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1157	20	0	1	0
chr16	20969981	20969981	C	G	exonic	DNAH3	.	nonsynonymous SNV	DNAH3:NM_001347886:exon52:c.G8131C:p.E2711Q	.	.	429	1086	6	1	0	8	0.00366972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	1.0	D	0.987	D	0.000	D	1.000	D	1.825	L	-1.05	T	-0.143	T	0.579	D	0.52	4.321	22.7	5.84	2.788	7.380	20.201	0.318	0.097549837499	0.0009	0.000599042	0.0010	0	0.0021	0	0	0.0011	0.0011	0.0018	0.0009444	146	154602	rs34223805	0.0014	0.0014	0.0014	0.0014	0.0023	0.0014	0.0013	0.0020	0.0019	0.0002	0.0015	7.652e-05	0	0.0001	0.0016	0.0015	0.0016	0.0023	0.0008	0.0008	0.0009	0.0006	0.0021	0.0006	0.0006	0.0011	0.0009	0.0003	0	0.0006	0.0003	0	9.42e-05	0	0.0012	0.0005	0.0021	0.006	0.61437	D	.	.	.	1.0	0.90584	D	0.987	0.77487	D	0.000214	0.47681	D	0.135906	1	0.81001	D	1.795	0.47270	L	-1.05	0.76690	T	-2.71	0.57762	D	0.704	0.70790	-0.1430	0.79091	T	0.579	0.84853	D	10	0.12859699	0.24464	T	0.09755	0.76792	D	0.318	0.64008	.	.	0.552044941364	0.54862	0.5727068342586872	0.57198	0.485768874065	0.47451	0.641983151436	0.58846	T	0.439442	0.78472	T	-0.249162	0.14200	T	-0.14391	0.59778	T	0.128796875476837	0.15269	T	0.863714	0.56064	D	0.38217965	0.59474	0.27182868	0.53087	0.38217965	0.59474	0.27182868	0.53086	-9.281	0.69488	D	.	.	0.288	0.51976	B	.	.	2.858775	0.37770	20.6	0.99831799592089021	0.91370	0.99675	0.98566	D	AEFBI	0.912817	0.87396	D	0.604652679474023	0.73467	5.971066	0.59277558970462	0.74421	6.134113	0.99999999999975	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.84	5.84	0.93373	7.461000	0.79870	3.979000	0.40889	0.596000	0.33519	1.000000	0.71638	0.999000	0.35428	0.485000	0.28678	0.0:1.0:0.0:0.0	20.201	0.98261	315	0.87208	Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	763.98	40	chr16	20969981	.	C	G	763.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.18;DP=785;ExcessHet=0.0000;FS=5.507;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=-7.000e-03;SOR=1.563	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1157	20	0	1	0
chr16	20985238	20985238	C	T	exonic	DNAH3	.	nonsynonymous SNV	DNAH3:NM_001347886:exon48:c.G7366A:p.V2456M	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.767	P	0.372	B	0.018	N	1.000	D	1.38	L	0.92	T	-1.052	T	0.098	T	0.395	2.621	14.72	2.35	0.258	0.525	11.349	0.126	0.0118500252261	.	.	4.943e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs757427875	3.899e-05	3.967e-05	2.314e-05	5.5e-05	0.0004	3.047e-05	2.783e-05	0.0003	0.0003	0	0.0001	3.826e-05	7.557e-05	0	0.0002	6.295e-06	4.967e-05	0.0004	2.629e-05	2.627e-05	0	5.382e-05	0.0006	8.14e-06	5.14e-06	0.0002	9.014e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.044	0.41096	D	.	.	.	0.767	0.43786	P	0.372	0.43610	B	0.018045	0.27574	N	0.294720	0.999987	0.54805	D	1.58	0.39772	L	0.92	0.44461	T	-1.21	0.30762	N	0.422	0.46180	-1.0523	0.13763	T	0.098	0.36548	T	10	0.20340994	0.36495	T	0.01185	0.29880	T	0.126	0.34673	0.747	0.87821	0.430351802785	0.42654	0.5021921972051796	0.50141	0.21845120166	0.24383	0.395162403584	0.24394	T	0.093433	0.39211	T	-0.400248	0.02306	T	-0.469974	0.25518	T	0.0603760811733855	0.07227	T	0.966303	0.87634	D	0.104354255	0.24668	0.11438208	0.27610	0.104354255	0.24667	0.11438208	0.27609	-6.384	0.49384	T	.	.	0.331	0.55271	B	.	.	0.496241	0.08656	5.424	0.99782631724389392	0.86955	0.12975	0.17591	N	AEFDBI	0.127810	0.24532	N	-0.318588651403985	0.28442	1.568811	-0.402502037362951	0.24923	1.367605	0.00410202853239139	0.10418	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.33	2.35	0.28166	0.195000	0.16960	0.138000	0.15134	-0.173000	0.11020	0.006000	0.17386	0.003000	0.18671	0.631000	0.32184	0.0:0.7673:0.0:0.2327	11.349	0.48818	354	0.85282	Dynein heavy chain, AAA module D4	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2168.98	33	chr16	20985238	.	C	T	2168.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=861;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=2.77;SOR=0.675	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1096	20	0	1	0
chr16	21031116	21031116	T	A	exonic	DNAH3	.	nonsynonymous SNV	DNAH3:NM_001347886:exon37:c.A5230T:p.I1744F	.	.	427	1072	22	1	0	24	0.0110701	.	.	2807712	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.995	D	0.816	P	0.000	D	1.000	D	3.105	M	0.96	T	-0.423	T	0.219	T	0.851	3.444	17.66	5.65	2.137	4.148	15.865	0.334	0.0373276557389	0.0032	0.00259585	0.0044	0.0008	0.0034	0.0001	0.0011	0.0050	0.0066	0.0084	0.0041267	638	154602	rs148202152	0.0033	0.0033	0.0030	0.0035	0.0144	0.0032	0.0032	0.0119	0.0110	0.0008	0.0040	0.0006	5.038e-05	0.0017	0.0144	0.0031	0.0038	0.0077	0.0032	0.0032	0.0033	0.0031	0.0091	0.0030	0.0029	0.0070	0.0062	0.0006	0	0.0056	0.0003	0	0.0007	0.0272	0.0044	0.0066	0.0091	0.004	0.65419	D	.	.	.	0.995	0.67487	D	0.816	0.58888	P	0.000001	0.84330	D	0.000000	1	0.81001	D	3.215	0.89331	M	0.96	0.42888	T	-3.3	0.65858	D	0.855	0.85132	-0.4226	0.71306	T	0.219	0.58201	T	10	0.023178488	0.00599	T	0.037328	0.57547	D	0.334	0.65620	.	.	0.343788945184	0.33981	0.6633433488230847	0.66271	0.57321118132	0.53386	0.52144408226	0.41829	T	0.343599	0.71223	T	-0.159217	0.26882	T	0.00406961	0.70599	D	0.0416310597211526	0.03987	T	0.945305	0.79188	D	0.52613527	0.68610	0.47302616	0.69453	0.52613527	0.68611	0.47302616	0.69453	-8.304	0.63122	D	.	.	0.540	0.66364	A	.	.	3.442284	0.47889	22.5	0.98258083290942377	0.39639	0.96442	0.69160	D	AEFBI	0.674860	0.64044	D	0.740335135973423	0.82276	7.722354	0.70025386183693	0.82396	7.757018	0.0272882980749738	0.13764	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.65	5.65	0.86881	2.828000	0.47822	3.455000	0.38473	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.865	0.78840	377	0.83897	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2026.98	35	chr16	21031116	.	T	A	2026.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.265;DP=876;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.50;ReadPosRankSum=-4.570e-01;SOR=0.691	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1233	20	0	1	0
chr16	21127750	21127750	G	A	exonic	DNAH3	.	nonsynonymous SNV	DNAH3:NM_017539:exon8:c.C1145T:p.P382L	.	.	426	1081	14	1	0	16	0.00734619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	1.0	D	0.995	D	0.005	N	1.000	D	1.7	L	2.4	T	-1.097	T	0.060	T	0.649	1.830	12.08	5.57	2.618	6.690	16.467	0.185	.	0.0063	0.00698882	0.0097	0.0021	0.0571	0	0.0005	0.0063	0.0022	0.0044	0.0093401	1444	154602	rs72780871	0.0074	0.0074	0.0076	0.0072	0.0471	0.0073	0.0072	0.0454	0.0447	0.0016	0.0471	0.0029	0	0.0012	0.0073	0.0069	0.0062	0.0049	0.0062	0.0062	0.0066	0.0058	0.0204	0.0059	0.0057	0.0185	0.0178	0.0020	0	0.0204	0.0035	0	0.0013	0.0068	0.0073	0.0057	0.0031	0.587	0.05862	T	.	.	.	0.028	0.19712	B	0.024	0.20255	B	0.004762	0.33407	N	0.246151	1	0.81001	D	1.915	0.51223	L	2.22	0.18248	T	-2.6	0.55983	D	0.625	0.63968	-1.0968	0.04501	T	0.060	0.25200	T	10	0.003222406	0.00055	T	.	.	.	0.185	0.45933	.	.	.	.	0.6975583790644141	0.69696	0.0997444713574	0.11265	0.548133075237	0.45594	T	0.018129	0.14670	T	-0.383538	0.02959	T	-0.286458	0.46138	T	0.0431534046224785	0.04265	T	0.836316	0.50742	T	0.11362422	0.26833	0.15789765	0.36900	0.11362422	0.26833	0.15789765	0.36899	-0.898	0.00893	T	.	.	0.332	0.55383	B	.	.	3.345607	0.46121	22.2	0.80180594998579779	0.13082	0.95032	0.63190	D	AEFBI	0.624976	0.60834	D	0.240198845700306	0.53157	3.485798	0.352905067146418	0.58683	4.040291	0.999649486939512	0.41316	0.553676	0.25195	0	0.573888	0.26702	0	0.608075	0.38828	0	0.620846	0.47308	0	.	.	5.57	5.57	0.84021	7.272000	0.77907	11.541000	0.93133	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.870000	0.41412	0.0:0.0:1.0:0.0	16.467	0.83926	462	0.78611	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	719.98	33	chr16	21127750	.	G	A	719.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.440e-01;DP=752;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.23;ReadPosRankSum=-1.433e+00;SOR=0.678	GT:AD:DP:GQ:PL	0/1:46,32:78:99:734,0,1196	20	0	1	0
chr16	21201969	21201969	A	T	exonic	ZP2	.	nonsynonymous SNV	ZP2:NM_001376231:exon12:c.T1342A:p.F448I	.	.	434	1076	12	0	0	12	0.00554529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.001	B	0.004	B	0.385	N	1.000	N	0.345	N	-1.59	D	-0.897	T	0.263	T	0.132	0.949	8.872	3.52	0.670	1.246	3.379	0.112	0.0415267371933	0.0004	0.000199681	0.0011	0.0004	0.0028	0	0	0.0013	0.0011	0.0005	0.0011061	171	154602	rs149014575	0.0010	0.0010	0.0010	0.0009	0.0179	0.0009	0.0009	0.0151	0.0140	0.0009	0.0022	0.0021	0	0	0.0179	0.0009	0.0015	0.0007	0.0009	0.0009	0.0009	0.0009	0.0022	0.0008	0.0007	0.0016	0.0014	0.0001	0	0.0022	0.0026	0	0	0.0136	0.0010	0.0043	0.0008	.	.	.	0.282	0.21612	T	0.001	0.07471	B	0.003	0.08700	B	0.384861	0.13338	N	0.691855	1	0.08975	N	0.345	0.11182	N	-1.59	0.82076	D	.	.	.	0.323	0.36359	-0.8971	0.48283	T	0.263	0.63405	T	10	0.013563961	0.00287	T	0.041527	0.59975	D	.	.	.	.	0.754905977992	0.75268	0.3961577243949441	0.39530	0.0812347112437	0.09137	0.286515921354	0.08417	T	0.145007	0.48192	T	-0.44408	0.01224	T	-0.41793	0.31313	T	0.00475963973073476	0.00051	T	.	.	.	0.046002053	0.07627	0.053419605	0.08993	0.048677467	0.08522	0.06681967	0.13740	-2.842	0.08576	T	.	.	0.058	0.00705	B	.;.	.;.	2.601874	0.33775	19.44	0.9058450195403196	0.19838	0.47389	0.27972	N	AEFBI	0.144816	0.26787	N	-0.856960115877819	0.11880	0.5757823	-0.729390685177263	0.16231	0.8576202	0.00172863210762739	0.08818	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.55	3.52	0.39415	1.303000	0.33075	3.308000	0.37439	-0.227000	0.07798	0.969000	0.34210	1.000000	0.68203	0.824000	0.38829	0.1499:0.1367:0.5721:0.1413	3.379	0.06826	645	0.63593	.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain|Zona pellucida domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2594.98	34	chr16	21201969	.	A	T	2594.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.090e-01;DP=903;ExcessHet=0.0000;FS=1.120;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=0.052;SOR=0.593	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1305	20	0	1	0
chr16	21204076	21204076	G	T	exonic	ZP2	.	nonsynonymous SNV	ZP2:NM_001376231:exon9:c.C926A:p.T309K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	0.962	D	0.61	P	0.747	N	1.000	N	1.345	L	-0.95	T	-0.842	T	0.260	T	0.345	-0.179	3.128	1.49	0.363	-0.241	2.812	0.173	0.0404031584631	.	.	8.243e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs774204764	3.42e-06	3.42e-06	1.361e-06	5.501e-06	0.0003	1e-06	7.3e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	1.799e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.06	0.23119	B	0.05	0.25278	B	0.747431	0.09727	N	0.886341	1	0.08975	N	2.175	0.60977	M	0.23	0.75438	T	.	.	.	0.229	0.25745	-0.8418	0.52527	T	0.260	0.63121	T	10	0.17538098	0.32466	T	0.040403	0.59359	D	.	.	0.435	0.48664	0.806461069714	0.80464	0.5167527663873727	0.51598	0.117469394865	0.13232	0.263016372919	0.05255	T	0.077442	0.35654	T	-0.135285	0.30645	T	-0.33525	0.40882	T	0.995132148265839	0.86890	D	.	.	.	0.0571344	0.11334	0.06630848	0.13565	0.0571344	0.11333	0.06630848	0.13564	-3.402	0.15083	T	.	.	0.082	0.14979	B	.;.	.;.	0.419389	0.07901	4.605	0.6398981680008955	0.07371	0.06818	0.12842	N	AEFGBI	0.104885	0.20974	N	-0.813724523746723	0.12959	0.6351653	-0.862916914698324	0.12977	0.6706717	0.00151577469344647	0.08604	0.486886	0.10167	0	0.586423	0.34054	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.97	1.49	0.21966	-0.052000	0.11821	1.709000	0.28183	0.676000	0.76740	0.000000	0.06391	0.005000	0.19230	0.082000	0.17360	0.1501:0.188:0.4694:0.1925	2.812	0.05111	658	0.62094	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1403.98	33	chr16	21204076	.	G	T	1403.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.850e-01;DP=809;ExcessHet=0.0000;FS=0.822;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=1.18;SOR=0.529	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	20	0	1	0
chr16	21403839	21403839	C	A	exonic	NPIPB3	.	unknown	UNKNOWN,	.	.	828	692	1	1	0	3	0.00216294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	.	.	0.999	N	.	.	2.22	T	-1.016	T	0.028	T	0.157	0.229	5.234	.	-2.350	.	.	0.112	0.000905793106543	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368710597	0.0013	0.0031	0.0012	0.0014	0.0045	0.0011	0.0011	0.0023	0.0020	0.0045	0.0007	0	0.0003	0.0052	0	0.0011	0.0009	0.0029	0	0.0022	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02778	54.55	2	chr16	21403839	.	C	A	54.55	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-9.670e-01;DP=139;ExcessHet=0.0000;FS=4.771;InbreedingCoeff=-0.0941;MLEAC=1;MLEAF=0.028;MQ=29.58;MQRankSum=-9.670e-01;QD=18.18;ReadPosRankSum=0.967;SOR=2.225	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:5,0:5:15:.:.:0,15,132	17	0	1	3
chr16	21403840	21403840	C	A	exonic	NPIPB3	.	unknown	UNKNOWN,	.	.	868	652	1	1	0	3	0.00229533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	.	.	.	.	.	.	1.000	N	.	.	2.14	T	-1.019	T	0.035	T	0.166	0.784	8.136	.	-1.969	.	.	0.087	0.000718651381275	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1221343527	0.0029	0.0042	0.0026	0.0031	0.0092	0.0026	0.0025	0.0058	0.0049	0.0092	0.0017	0.0017	0.0013	0.0065	0	0.0024	0.0017	0.0062	0	0.0031	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	55.11	2	chr16	21403840	.	C	A	55.11	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-9.670e-01;DP=121;ExcessHet=0.0000;FS=4.771;InbreedingCoeff=-0.1185;MLEAC=1;MLEAF=0.029;MQ=29.58;MQRankSum=-9.670e-01;QD=18.37;ReadPosRankSum=0.967;SOR=2.225	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:5,0:5:15:.:.:0,15,132	16	0	1	4
chr16	21403841	21403841	C	T	exonic	NPIPB3	.	unknown	UNKNOWN,	.	.	887	633	1	1	0	3	0.00236407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1305431311	0.0029	0.0040	0.0026	0.0031	0.0076	0.0026	0.0025	0.0061	0.0057	0.0076	0.0020	0.0018	0.0014	0.0050	0	0.0023	0.0014	0.0071	0	0.0033	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02778	53.94	2	chr16	21403841	.	C	T	53.94	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-9.670e-01;DP=125;ExcessHet=0.0000;FS=4.771;InbreedingCoeff=-0.0805;MLEAC=1;MLEAF=0.028;MQ=29.58;MQRankSum=-9.670e-01;QD=17.98;ReadPosRankSum=0.967;SOR=2.225	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:5,0:5:15:.:.:0,15,132	17	0	1	3
chr16	21403846	21403846	A	G	exonic	NPIPB3	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	.	.	.	.	.	.	1.000	N	.	.	1.8	T	-1.011	T	0.058	T	0.213	0.879	8.565	.	0.064	.	.	0.021	0.000460346722041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.632e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	58.73	2	chr16	21403846	.	A	G	58.73	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.420e-01;DP=130;ExcessHet=0.0000;FS=4.771;InbreedingCoeff=-0.0302;MLEAC=1;MLEAF=0.024;MQ=32.55;MQRankSum=1.83;QD=9.79;ReadPosRankSum=1.28;SOR=0.039	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:4,0:4:12:.:.:0,12,105	20	0	1	0
chr16	21404236	21404236	C	-	splicing	NPIPB3	NM_130464:exon10:c.1691+1G>-;NM_130464:exon11:c.1692-1G>-	.	.	.	.	1479	15	0	28	0	56	0.651163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	0	.	.	0.0004528	70	154602	rs767458164	0.3333	0.0001	1.0000	0	0.5000	0.0592	0.0248	0.0888	0.0371	.	0.5000	.	.	.	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	380.23	3	chr16	21404235	.	GC	G	380.23	.	AC=6;AF=1.00;AN=6;DP=44;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3927;MLEAC=16;MLEAF=1.00;MQ=25.55;QD=32.05;SOR=3.056	GT:AD:DP:GQ:PL	./.:2,0:2:0:0,0,0	0	3	0	18
chr16	21404280	21404280	G	A	exonic	NPIPB3	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.179e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02632	51.18	3	chr16	21404280	.	G	A	51.18	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.00;DP=86;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0960;MLEAC=1;MLEAF=0.026;MQ=45.57;MQRankSum=-2.029e+00;QD=4.26;ReadPosRankSum=-1.730e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,25	18	0	1	2
chr16	21404541	21404541	C	T	exonic	NPIPB3	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	N	.	.	.	.	.	.	.	.	.	-0.375	2.238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.588e-05	0	0	.	0	0	.	.	0	0	.	.	0	.	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1111	64.94	1	chr16	21404541	.	C	T	64.94	.	AC=2;AF=0.111;AN=18;DP=13;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2375;MLEAC=3;MLEAF=0.167;MQ=32.63;QD=32.47;SOR=2.303	GT:AD:DP:GQ:PL	./.	8	1	0	12
chr16	21404822	21404822	A	G	exonic	NPIPB3	.	unknown	UNKNOWN,	.	.	534	979	9	0	0	9	0.0045755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.782	P	0.588	P	.	.	1.000	N	.	.	2.23	T	-1.065	T	0.027	T	0.124	-2.992	0.001	.	0.064	0.061	.	0.034	0.000814305480675	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs768919248	0.0008	0.0008	0.0005	0.0010	0.0072	0.0007	0.0007	0.0068	0.0066	0.0002	0.0003	0.0050	0	4.968e-05	0.0050	0.0002	0.0011	0.0072	0.0003	0.0004	0.0004	0.0002	0.0012	0.0002	0.0002	0.0002	9.749e-05	0.0002	0	0.0004	0.0028	0	0	0	0.0002	0.0009	0.0012	0.26	0.16574	T	0.163	0.31125	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-5.27	0.84175	D	0.371	0.41261	-1.0654	0.10456	T	0.027	0.11485	T	6	0.010564804	0.00235	T	8.14E-4	0.00649	T	0.034	0.08419	.	.	0.0675242888579	0.06100	0.0039076825103428045	0.00366	.	.	.	.	.	.	.	.	-0.553547	0.00278	T	-0.560232	0.16355	T	0.132421325003228	0.15604	T	0.514049	0.16524	T	.	.	.	.	.	.	.	.	-5.128	0.38201	T	.	.	.	.	.	.	.	0.412528	0.07833	4.529	0.11368674612924323	0.00169	0.00268	0.01460	N	AEFI	0.064389	0.12500	N	-1.10038978236753	0.06637	0.3060837	-1.28425517447828	0.04643	0.219474	1.09547697404592E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	0.187000	0.16806	-1.134000	0.06229	0.222000	0.18087	0.018000	0.19461	0.000000	0.08366	0.011000	0.09372	.	.	.	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.075	6865.72	36	chr16	21404822	.	A	G	6865.72	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-1.443e+00;DP=2372;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0909;MLEAC=3;MLEAF=0.075;MQ=35.89;MQRankSum=0.605;QD=8.60;ReadPosRankSum=-7.810e-01;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:54,0:54:99:.:.:0,120,1800	17	0	3	1
chr16	21404830	21404830	C	G	exonic	NPIPB3	.	unknown	UNKNOWN,	.	.	521	992	9	0	0	9	0.00451581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.013	B	0.013	B	.	.	1.000	N	.	.	2.25	T	-0.985	T	0.011	T	0.071	-2.748	0	.	-2.328	-2.332	.	0.113	0.00305511340832	.	.	1.21e-05	0.0002	0	0	0	0	0	0	3.84e-05	1	26028	rs764442120	0.0008	0.0008	0.0005	0.0011	0.0072	0.0008	0.0007	0.0068	0.0066	0.0002	0.0004	0.0051	0.0001	0	0.0053	0.0003	0.0012	0.0072	0.0003	0.0003	0.0004	0.0002	0.0011	0.0002	0.0002	0.0002	9.48e-05	0.0002	0	0.0001	0.0022	0	0	0	0.0002	0.0017	0.0011	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	3.63	0.00077	N	0.211	0.23506	-0.9853	0.33760	T	0.011	0.04274	T	6	0.014197737	0.00299	T	0.003055	0.06577	T	0.113	0.31778	.	.	0.043077524339	0.03247	0.003800006791874197	0.00355	.	.	.	.	.	.	.	.	-0.658688	0.00064	T	-0.72572	0.04523	T	0.00588467453405273	0.00065	T	0.548145	0.18826	T	.	.	.	.	.	.	.	.	3.676	0.00011	T	.	.	.	.	.	.	.	-0.709877	0.01297	0.069	0.3888448388659913	0.02650	0.00019	0.00214	N	AEFI	0.016501	0.00375	N	-2.01282428854043	0.00199	0.00850851	-2.13039005528964	0.00160	0.007031799	4.56923251083003E-5	0.03989	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	-3.305000	0.00575	-4.306000	0.02226	-2.807000	0.00183	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	878	0.29785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	7237.77	36	chr16	21404830	.	C	G	7237.77	.	AC=3;AF=0.075;AN=40;BaseQRankSum=1.19;DP=2457;ExcessHet=0.3476;FS=0.000;InbreedingCoeff=0.0789;MLEAC=3;MLEAF=0.075;MQ=36.50;MQRankSum=0.439;QD=8.45;ReadPosRankSum=-3.100e-01;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:54,0:54:99:.:.:0,120,1800	17	0	3	1
chr16	21404840	21404840	G	T	exonic	NPIPB3	.	unknown	UNKNOWN,	.	.	489	1024	9	0	0	9	0.0043753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.235	B	0.079	B	.	.	1.000	N	.	.	1.89	T	-0.991	T	0.032	T	0.071	-0.976	0.297	.	0.073	0.064	.	0.080	0.000773427527902	.	.	8.924e-06	0	0	0	0	1.608e-05	0	0	3.84e-05	1	26028	rs780924189	0.0008	0.0008	0.0005	0.0011	0.0072	0.0008	0.0007	0.0067	0.0065	0.0002	0.0003	0.0050	0.0003	0	0.0052	0.0003	0.0011	0.0072	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0001	0.0003	0.0001	6.338e-05	0	7.944e-05	0.0016	0.0003	0	0	0.0002	0.0006	0.0010	0.226	0.18562	T	0.461	0.12562	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-1.0	0.26422	N	0.186	0.20262	-0.9910	0.32347	T	0.032	0.13592	T	6	0.023569375	0.00621	T	7.73E-4	0.00568	T	0.080	0.23350	.	.	0.043077524339	0.03247	0.0020208442233526284	0.00187	.	.	.	.	.	.	.	.	-0.607099	0.00132	T	-0.652096	0.08808	T	0.00632926929471588	0.00070	T	0.60384	0.22664	T	.	.	.	.	.	.	.	.	-4.157	0.26126	T	.	.	.	.	.	.	.	0.171734	0.05604	2.060	0.65293036323049336	0.07732	0.00386	0.01946	N	AEFI	0.043803	0.06970	N	-1.08744069757645	0.06873	0.3176827	-1.23639843889576	0.05335	0.2539725	1.09582168514057E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	0.196000	0.16979	-2.062000	0.04270	0.286000	0.18717	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.075	8405.72	36	chr16	21404840	.	G	T	8405.72	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-1.942e+00;DP=2579;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0909;MLEAC=3;MLEAF=0.075;MQ=37.22;MQRankSum=0.316;QD=8.92;ReadPosRankSum=0.040;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:54,0:54:99:.:.:0,120,1800	17	0	3	1
chr16	21404850	21404850	C	T	exonic	NPIPB3	.	unknown	UNKNOWN,	.	.	493	1019	1	0	9	10	0.000490436	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.507e-05	0.0003	0	0	0	1.593e-05	0	0	3.84e-05	1	26028	rs771031390	0.0009	0.0010	0.0007	0.0012	0.0072	0.0009	0.0009	0.0067	0.0065	0.0009	0.0004	0.0051	0.0003	7.022e-05	0.0057	0.0004	0.0015	0.0072	0.0005	0.0008	0.0006	0.0003	0.0013	0.0004	0.0003	0.0005	0.0005	0.0008	0	0.0002	0.0016	0	0	0	0.0003	0.0012	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	8581.77	36	chr16	21404850	.	C	T	8581.77	.	AC=3;AF=0.075;AN=40;BaseQRankSum=0.725;DP=2655;ExcessHet=0.3476;FS=0.000;InbreedingCoeff=0.0789;MLEAC=3;MLEAF=0.075;MQ=37.58;MQRankSum=0.025;QD=8.75;ReadPosRankSum=-1.020e-01;SOR=0.740	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:54,0:54:99:.:.:0,120,1800	17	0	3	1
chr16	21643571	21643571	C	T	exonic	IGSF6	.	nonsynonymous SNV	IGSF6:NM_005849:exon4:c.G562A:p.E188K,	.	.	445	1061	14	2	0	18	0.00841121	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.022	B	0.03	B	0.489	N	1.000	N	1.59	L	1.92	T	-1.020	T	0.040	T	0.072	0.744	7.948	3.77	0.868	1.331	9.263	0.042	.	0.0072	0.00419329	0.0065	0.0021	0.0069	0	0.0055	0.0095	0.0078	0.0007	0.0067075	1037	154602	rs77836477	0.0084	0.0086	0.0085	0.0083	0.0098	0.0083	0.0082	0.0096	0.0096	0.0013	0.0062	0.0098	2.53e-05	0.0047	0.0077	0.0098	0.0079	0.0007	0.0065	0.0065	0.0070	0.0060	0.0109	0.0062	0.0060	0.0102	0.0100	0.0015	0.0022	0.0067	0.0086	0	0.0027	0.0102	0.0109	0.0104	0.0002	0.142	0.25457	T	0.483	0.11795	T	0.022	0.18677	B	0.03	0.21741	B	0.488727	0.12081	N	0.769973	0.893976	0.81001	N	1.31	0.32734	L	1.92	0.23082	T	-2.04	0.46842	N	0.175	0.18784	-1.0205	0.23551	T	0.040	0.17277	T	10	0.0027594566	0.00043	T	.	.	.	0.042	0.11227	.	.	0.0806252709748	0.07271	0.25484800317108364	0.25398	0.190108669727	0.21326	0.419275164604	0.27737	T	0.044407	0.26805	T	-0.620615	0.00109	T	-0.652571	0.08775	T	0.00892801357345153	0.00111	T	.	.	.	0.20146799	0.42159	0.16036145	0.37354	0.20146799	0.42159	0.16036145	0.37353	-3.225	0.12788	T	.	.	0.100	0.16973	B	.	.	2.736694	0.35835	20.0	0.76989183905531133	0.11691	0.75355	0.36891	D	AEFI	0.187284	0.31458	N	-0.241100633681599	0.31461	1.764272	-0.0889499903354341	0.35846	2.078725	0.999953954681856	0.48110	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.75	3.77	0.42499	0.964000	0.28903	1.069000	0.23788	0.599000	0.40250	0.979000	0.35152	0.546000	0.25442	0.996000	0.76049	0.0:0.8309:0.0:0.1691	9.263	0.36786	594	0.68584	.	RRN3P1|METTL9|METTL9|CTB-31N19.3	Adipose_Visceral_Omentum|Colon_Transverse|Whole_Blood|Whole_Blood	SMG1P3	Skin_Sun_Exposed_Lower_leg	rs77836477	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	512.98	38	chr16	21643571	.	C	T	512.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.999;DP=743;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.50;ReadPosRankSum=1.74;SOR=0.582	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,920	20	0	1	0
chr16	21799684	21799684	T	C	exonic	RRN3	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1414525159	6.059e-06	5.261e-06	0	1.13e-05	0.0005	1.61e-06	4.5e-07	1.14e-06	4.3e-07	0	0	0	0	0	0.0005	6.84e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	137.34	33	chr16	21799684	.	T	C	137.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.794;DP=508;ExcessHet=0.0000;FS=2.105;InbreedingCoeff=-0.0258;MLEAC=1;MLEAF=0.025;MQ=27.10;MQRankSum=0.315;QD=6.24;ReadPosRankSum=-1.939e+00;SOR=1.536	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1216	19	0	1	1
chr16	21800816	21800816	C	A	exonic	RRN3	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.581e-06	3.689e-06	3.504e-06	1.69e-06	2.546e-05	6.9e-07	1.9e-07	4.23e-06	1.58e-06	0	0	0	0	0	0	1.185e-06	0	2.546e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	191.33	34	chr16	21800816	.	C	A	191.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.030e+00;DP=654;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=59.09;MQRankSum=0.965;QD=8.32;ReadPosRankSum=-8.070e-01;SOR=0.917	GT:AD:DP:GQ:PL	0/0:29,0:29:84:0,84,877	19	0	1	1
chr16	21835865	21835865	G	A	exonic	NPIPB4;NPIPB5	.	nonsynonymous SNV	NPIPB4:NM_001310148:exon8:c.C2522T:p.A841V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.75	P	0.083	B	.	.	.	.	.	.	1.52	T	-0.869	T	0.086	T	0.138	1.697	11.63	.	.	.	.	0.039	0.0678359469079	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1321866182	8.311e-05	7.99e-05	5.489e-05	0.0001	0.0003	6.26e-05	5.51e-05	0.0002	0.0001	0	4.406e-05	0	0.0003	0	0	6.514e-05	3.885e-05	0.0002	0	3.502e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.002	0.72154	D	0.035	0.52389	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.99	0.21666	T	-0.44	0.14588	N	0.119	0.10911	-0.8693	0.50582	T	0.086	0.33354	T	2	0.13960382	0.26542	T	0.067836	0.70279	D	0.047	0.12962	.	.	0.476522311808	0.47281	2.401668410400954E-5	0.00002	.	.	.	.	.	0.014354	0.12236	T	-0.561023	0.00250	T	-0.661679	0.08153	T	0.0461968378221583	0.04819	T	0.664234	0.27311	T	0.05389627	0.10264	0.0878834	0.20457	0.05389627	0.10263	0.0878834	0.20456	-9.751	0.72408	D	.	.	0.926	0.84721	P	.	.	1.706789	0.21738	15.33	0.99662834643627951	0.78074	0.00143	0.00871	N	AEFDBI	0.078109	0.15754	N	0.508518132672783	0.67592	5.10225	0.148958540740347	0.47087	2.94425	7.7445175094361E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	0.182000	0.16710	-1.284000	0.05818	0.183000	0.17812	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	612	0.66786	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	908.98	33	chr16	21835865	.	G	A	908.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.05;DP=800;ExcessHet=0.0000;FS=3.751;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=38.26;MQRankSum=-2.510e-01;QD=8.04;ReadPosRankSum=-1.608e+00;SOR=1.088	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1401	20	0	1	0
chr16	21836042	21836042	T	A	exonic	NPIPB3;NPIPB4;NPIPB5	.	nonsynonymous SNV	NPIPB4:NM_001310148:exon8:c.A2345T:p.H782L	.	.	801	714	5	2	0	9	0.00626305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99	T	0.845	P	0.855	P	.	.	.	.	.	.	1.92	T	-1.048	T	0.090	T	0.169	0.485	6.632	.	.	.	.	0.108	0.0744435508004	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200479445	0.0079	0.0008	0.0077	0.0079	0.0667	0.0071	0.0067	0.0118	0.0104	0	0.0034	0.0172	0	0.0046	0.0667	0.0125	0.0045	0.0041	.	0.0010	.	.	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.403	0.14865	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.65	0.27650	T	-0.93	0.24898	N	0.097	0.07811	-1.0477	0.15045	T	0.090	0.34491	T	4	0.04022956	0.02575	T	0.074444	0.72042	D	0.108	0.30607	.	.	0.552615868945	0.54919	1.5464871702295134E-5	0.00001	.	.	.	.	.	0.020245	0.15973	T	-0.54995	0.00292	T	-0.567979	0.15635	T	0.0483511261881775	0.05207	T	0.381062	0.09207	T	0.10896292	0.25763	0.15844259	0.37001	0.10896292	0.25763	0.15844259	0.37000	-11.054	0.79953	D	.	.	0.760	0.75508	P	.	.	1.070084	0.14522	11.09	0.76209008688680602	0.11376	0.00115	0.00727	N	AEFBI	0.044752	0.07239	N	-0.202937159608316	0.33012	1.86826	-0.357665776245545	0.26272	1.450098	1.09648973830877E-6	0.01202	0.487112	0.14033	0	0.315538	0.05683	2	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.148000	0.16042	-7.506000	0.01142	0.170000	0.17755	0.007000	0.17678	0.000000	0.08366	0.007000	0.07825	.	.	.	612	0.66786	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	266.98	10	chr16	21836042	.	T	A	266.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.95;DP=465;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0247;MLEAC=1;MLEAF=0.024;MQ=29.33;MQRankSum=-9.980e-01;QD=9.21;ReadPosRankSum=-5.270e-01;SOR=1.402	GT:AD:DP:GQ:PL	0/0:26,0:26:38:0,38,942	20	0	1	0
chr16	21843705	21843705	C	T	exonic	NPIPB3;NPIPB4;NPIPB5	.	nonsynonymous SNV	NPIPB5:NM_001135865:exon3:c.G338A:p.R113H	.	.	604	909	9	0	0	9	0.00492611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.997	D	0.912	D	.	.	.	.	.	.	0.86	T	-0.608	T	0.209	T	0.338	1.753	11.82	0.589	0.604	0.984	.	0.080	0.00712021450829	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs201739449	0.0040	0.0055	0.0039	0.0041	0.0060	0.0039	0.0039	0.0056	0.0054	0.0006	0.0012	0.0015	0.0001	0.0181	0.0036	0.0038	0.0042	0.0060	0.0027	0.0030	0.0026	0.0028	0.0025	0.0023	0.0021	0.0018	0.0016	0.0003	0	0.0009	0.0014	0	0.0187	0	0.0025	0.0044	0.0011	0.168	0.23007	T	0.204	0.35582	T	0.997	0.70673	D	0.912	0.64797	D	.	.	.	.	.	.	.	.	.	.	0.86	0.46777	T	-1.06	0.50175	N	0.149	0.19055	-0.6078	0.64495	T	0.209	0.56798	T	6	0.11830032	0.22361	T	0.00712	0.18869	T	0.080	0.23350	.	.	0.132336055621	0.12781	0.011986005434105284	0.01157	.	.	.	.	.	0.013266	0.11507	T	-0.155834	0.27404	T	-0.461621	0.26422	T	0.0469442462948734	0.04955	T	0.774123	0.40598	T	0.045825787	0.07568	0.07042712	0.14962	0.045825787	0.07567	0.07042712	0.14962	-5.158	0.38512	T	.	.	0.293	0.52442	B	.;.;.;.	.;.;.;.	1.393913	0.18068	13.53	0.99779161435595154	0.86606	0.01087	0.04005	N	AEFI	0.057859	0.10811	N	-0.674499663486755	0.16750	0.8561534	-0.911836786858661	0.11814	0.6041934	1.43167424178355E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	0.589	0.589	0.16636	0.989000	0.29229	-7.138000	0.01222	0.190000	0.17853	0.003000	0.16062	0.000000	0.08366	0.008000	0.08271	.	.	.	607	0.67291	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	99.35	14	chr16	21843705	.	C	T	99.35	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.37;DP=248;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0265;MLEAC=1;MLEAF=0.025;MQ=22.67;MQRankSum=-9.210e-01;QD=12.42;ReadPosRankSum=0.414;SOR=1.179	GT:AD:DP:GQ:PL	0/0:6,0:6:18:0,18,209	19	0	1	1
chr16	21847459	21847459	G	A	exonic	NPIPB3;NPIPB4;NPIPB5	.	nonsynonymous SNV	NPIPB5:NM_001135865:exon2:c.C203T:p.P68L	.	.	459	1061	2	0	0	2	0.00094162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.213	B	0.056	B	.	.	.	.	.	.	1.21	T	-0.963	T	0.031	T	0.42	-2.259	0.004	0.589	-0.351	-0.042	.	0.067	0.00162891877565	.	0.000599042	0.0016	0	0	0	0	0.0019	0	0.0035	6.47e-05	10	154602	rs201888052	0.0011	0.0011	0.0011	0.0010	0.0014	0.0010	0.0010	0.0012	0.0011	0.0002	6.76e-05	0	0.0005	0.0002	0	0.0012	0.0016	0.0014	0.0006	0.0007	0.0009	0.0004	0.0012	0.0005	0.0005	0.0010	0.0009	0.0002	0	0.0001	0	0.0006	0	0	0.0012	0.0010	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.11	0.26188	B	0.056	0.26147	B	.	.	.	.	.	.	.	.	.	.	1.21	0.37230	T	1.47	0.01011	N	0.093	0.18649	-0.9632	0.38567	T	0.031	0.13461	T	6	0.012043774	0.00260	T	0.001629	0.02651	T	0.067	0.19503	0.507	0.60232	0.28492961333	0.28089	0.016479163474655636	0.01602	.	.	.	.	.	0.003558	0.02970	T	-0.16513	0.25974	T	-0.474974	0.24982	T	0.00487989841713165	0.00052	T	0.684232	0.31087	T	0.048354838	0.08413	0.06443235	0.12913	0.048354838	0.08413	0.06443235	0.12912	-0.661	0.00692	T	.	.	0.616	0.69518	P	.;.;.;.;.	.;.;.;.;.	-0.452661	0.02024	0.181	0.12837805566826915	0.00235	0.00005	0.00104	N	AEFI	0.017217	0.00437	N	-1.57235525011879	0.01408	0.06141117	-1.68569017757422	0.01202	0.05410858	1.23880235483463E-6	0.01202	0.693126	0.56070	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.589	0.589	0.16636	-0.003000	0.12836	1.646000	0.27819	-0.598000	0.04625	0.000000	0.06391	0.001000	0.17328	0.002000	0.04165	.	.	.	603	0.67726	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	696.98	37	chr16	21847459	.	G	A	696.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.47;DP=1180;ExcessHet=0.0000;FS=1.485;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=37.50;MQRankSum=-4.171e+00;QD=1.46;ReadPosRankSum=-1.073e+00;SOR=0.531	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1365	20	0	1	0
chr16	21847508	21847508	C	T	exonic	NPIPB3;NPIPB4;NPIPB5	.	nonsynonymous SNV	NPIPB5:NM_001135865:exon2:c.G154A:p.G52R	.	.	462	1046	10	4	0	18	0.00853081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.982	D	0.895	P	.	.	.	.	.	.	0.67	T	-0.488	T	0.230	T	0.39	1.614	11.35	0.589	0.604	1.069	.	0.106	.	.	0.00199681	0.0013	0	0.0002	0	0	0.0002	0	0.0074	9.06e-05	14	154602	rs550529229	0.0005	0.0005	0.0003	0.0006	0.0063	0.0004	0.0004	0.0052	0.0051	0.0002	0.0002	0	5.167e-05	0	0.0063	9.952e-05	0.0008	0.0056	0.0003	0.0003	0.0002	0.0004	0.0063	0.0002	0.0002	0.0044	0.0038	5.058e-05	0	6.82e-05	0	0	0	0.0035	0.0001	0.0015	0.0063	0.007	0.59928	D	0.007	0.69154	D	0.982	0.60036	D	0.869	0.61749	P	.	.	.	.	.	.	.	.	.	.	0.67	0.52187	T	-3.06	0.73151	D	0.321	0.36148	-0.4881	0.69076	T	0.230	0.59521	T	6	0.015515119	0.00326	T	.	.	.	0.106	0.30130	0.764	0.89213	0.503063991398	0.49945	0.021037568676493146	0.02056	.	.	.	.	.	0.040565	0.25569	T	-0.438541	0.01319	T	-0.400653	0.33309	T	0.0798934883505411	0.09973	T	0.916008	0.75104	D	0.27964434	0.51014	0.25319785	0.50963	0.27964434	0.51014	0.25319785	0.50962	-3.027	0.10475	T	.	.	0.611	0.69350	P	.;.;.;.;.	.;.;.;.;.	1.556691	0.19942	14.51	0.99308894328036812	0.58906	0.01067	0.03955	N	AEFI	0.058646	0.11018	N	-0.445841410765125	0.23881	1.285591	-0.743487178239947	0.15883	0.8375237	1.43167424178355E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	0.589	0.589	0.16636	0.164000	0.16359	0.487000	0.18863	-0.835000	0.02838	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	603	0.67726	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1549.98	37	chr16	21847508	.	C	T	1549.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=1233;ExcessHet=0.0000;FS=5.917;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=38.38;MQRankSum=-5.194e+00;QD=7.45;ReadPosRankSum=2.21;SOR=0.978	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1365	20	0	1	0
chr16	21847534	21847534	T	C	exonic	NPIPB3;NPIPB4;NPIPB5	.	nonsynonymous SNV	NPIPB5:NM_001135865:exon2:c.A128G:p.N43S	.	.	465	1050	6	1	0	8	0.00379507	.	.	2807722	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.989	D	0.908	P	.	.	.	.	.	.	0.89	T	-0.569	T	0.198	T	0.237	1.455	10.81	0.589	0.507	0.146	.	0.094	.	.	0.00179712	0.0082	0	0.0118	0	0.0625	0.0113	0	0.0028	0.0001358	21	154602	rs199863058	0.0050	0.0058	0.0050	0.0049	0.0070	0.0049	0.0048	0.0053	0.0053	0.0010	0.0025	0.0150	0	0.0034	0.0070	0.0055	0.0058	0.0008	0.0042	0.0047	0.0040	0.0044	0.0057	0.0039	0.0038	0.0052	0.0050	0.0010	0	0.0048	0.0159	0	0.0057	0.0180	0.0057	0.0036	0.0005	0.006	0.63226	D	0.009	0.92824	D	0.843	0.46605	P	0.893	0.63340	P	.	.	.	.	.	.	.	.	.	.	0.89	0.45636	T	-2.13	0.61435	N	0.112	0.16168	-0.5694	0.66039	T	0.198	0.55372	T	6	0.0053065717	0.00116	T	.	.	.	0.094	0.27141	.	.	0.198526703765	0.19489	0.011931017693493294	0.01153	.	.	.	.	.	0.024963	0.18762	T	-0.539092	0.00339	T	-0.54286	0.18016	T	0.0400907091728157	0.03707	T	0.888311	0.64041	D	0.10054736	0.23742	0.120550916	0.29091	0.10054736	0.23742	0.120550916	0.29090	-2.825	0.08416	T	.	.	0.216	0.44553	B	.;.;.;.;.	.;.;.;.;.	0.430060	0.08007	4.721	0.99046061366414018	0.51140	0.00390	0.01961	N	AEFI	0.061874	0.11859	N	-0.482341788067094	0.22660	1.211501	-0.780919192340417	0.14963	0.7845777	1.35027997785632E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	0.589	0.589	0.16636	-0.229000	0.09106	-9.545000	0.00807	-0.646000	0.04408	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	.	.	.	603	0.67726	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1666.98	37	chr16	21847534	.	T	C	1666.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.763;DP=1069;ExcessHet=0.0000;FS=2.059;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=35.40;MQRankSum=-2.110e+00;QD=4.71;ReadPosRankSum=-1.900e-01;SOR=0.819	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1365	20	0	1	0
chr16	22008408	22008408	-	AGCACTCACTGTGGGCCTCGTGCGACAGTGTCAAACAATCCATGGACGAGACCGGACGTGCA	splicing	MOSMO	NM_001164579:exon1:c.106+1->AGCACTCACTGTGGGCCTCGTGCGACAGTGTCAAACAATCCATGGACGAGACCGGACGTGCA	.	.	.	.	412	1061	20	0	29	49	0.00933707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.392e-05	0.0007	0	0	0	0	0	0	3.84e-05	1	26028	.	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	0.0001	0.0002	0.0002	0.0002	0.0003	0	0.0004	0.0003	0.0005	0.0001	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	9.952e-05	0.0002	0	0.0003	0	0.0006	9.461e-05	0	0.0001	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	495.94	34	chr16	22008408	.	G	GAGCACTCACTGTGGGCCTCGTGCGACAGTGTCAAACAATCCATGGACGAGACCGGACGTGCA	495.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=6.20;DP=1139;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.91;MQRankSum=-7.317e+00;QD=4.39;ReadPosRankSum=-2.012e+00;SOR=0.705	GT:AD:DP:GQ:PL	0/1:94,19:113:99:510,0,3895	20	0	1	0
chr16	22075699	22075699	-	TGATCCTTTTCTGTATGGCTGCCCTAATATTTCCAATAG	exonic	MOSMO	.	nonframeshift insertion	MOSMO:NM_001164579:exon2:c.319_320insTGATCCTTTTCTGTATGGCTGCCCTAATATTTCCAATAG:p.I119_G120insVILFCMAALIFPI,	.	.	428	1079	9	0	6	15	0.00415321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0030	0.0012	0.012	0.0033	0.0033	0.0010	0	0.0050	6.5e-06	1	154602	rs777064731	0.0011	0.0021	0.0010	0.0012	0.0064	0.0010	0.0010	0.0057	0.0055	0.0018	0.0020	0.0024	0.0064	0.0043	0.0016	0.0007	0.0014	0.0011	0.0010	0.0034	0.0009	0.0011	0.0015	0.0009	0.0008	0.0012	0.0011	0.0015	0.0022	0.0014	0.0012	0.0014	0.0012	0	0.0005	0.0005	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1066.07	35	chr16	22075699	.	A	ATGATCCTTTTCTGTATGGCTGCCCTAATATTTCCAATAG	1066.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.311;DP=1158;ExcessHet=0.1072;FS=3.997;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.39;MQRankSum=-2.603e+00;QD=5.92;ReadPosRankSum=-3.003e+00;SOR=1.157	GT:AD:DP:GQ:PL	0/1:75,17:92:99:457,0,3098	19	0	2	0
chr16	22123155	22123155	A	G	exonic	VWA3A	.	nonsynonymous SNV	VWA3A:NM_173615:exon15:c.A1427G:p.Y476C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.957	D	0.001	D	1.000	D	2.175	M	2.61	T	-0.965	T	0.134	T	0.682	3.148	16.53	3.03	0.306	1.318	2.564	0.229	0.0141201948369	.	0.000199681	0.0003	0	0.0003	0	0	0.0005	0	0.0003	0.0001617	25	154602	rs200794387	6.135e-05	6.293e-05	5.476e-05	6.803e-05	0.0003	5.067e-05	4.708e-05	0.0002	0.0001	3.001e-05	4.638e-05	0	0	7.569e-05	0	5.061e-05	8.328e-05	0.0003	5.258e-05	5.25e-05	7.715e-05	2.688e-05	0.0001	2.558e-05	1.83e-05	3.763e-05	2.576e-05	0	0	0.0001	0	0	0	0	8.823e-05	0	0	0.004	0.65419	D	0.01	0.70582	D	0.998	0.73220	D	0.885	0.62825	P	0.000533	0.43581	D	0.156428	0.553614	0.81001	D	2.43	0.70455	M	2.09	0.20122	T	-5.59	0.89093	D	0.437	0.47580	-0.9646	0.38290	T	0.134	0.44700	T	10	0.13650748	0.25972	T	0.01412	0.34021	T	0.229	0.52916	0.457	0.52265	0.289474373501	0.28556	0.49811349221783696	0.49732	0.0578632915094	0.06410	0.452298015356	0.32258	T	0.050531	0.28620	T	-0.202776	0.20405	T	-0.25975	0.48849	T	0.24345426261425	0.22577	T	0.731327	0.34690	T	0.23634587	0.46483	0.27482796	0.53414	0.23634587	0.46483	0.27482796	0.53413	-5.538	0.42222	T	.	.	0.099	0.28145	B	.;.	.;.	4.993154	0.82791	27.9	0.99748719907651839	0.84077	0.48557	0.28234	N	AEFBHCI	0.116522	0.22865	N	0.3556075116416	0.59037	4.07989	0.288817051908117	0.54887	3.652373	0.195121336812675	0.18049	0.525926	0.21836	0	0.615948	0.52940	0	0.600433	0.31921	0	0.584449	0.35598	0	.	.	5.37	3.03	0.34070	1.312000	0.33179	0.623000	0.20150	0.756000	0.94297	0.979000	0.35152	0.003000	0.18671	0.992000	0.67800	0.6114:0.1521:0.081:0.1555	2.564	0.04488	457	0.78953	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	990.98	36	chr16	22123155	.	A	G	990.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=776;ExcessHet=0.0000;FS=3.093;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=-8.520e-01;SOR=1.136	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1121	20	0	1	0
chr16	22266836	22266836	C	T	exonic	EEF2K	.	nonsynonymous SNV	EEF2K:NM_013302:exon15:c.C1724T:p.S575L,	.	.	.	.	.	.	.	.	.	.	.	3248378	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.019	B	0.005	B	0.000	D	0.999	D	-0.405	N	3.6	T	-0.989	T	0.007	T	0.195	0.313	5.696	4.96	1.511	3.085	14.920	0.076	0.00790650595787	.	.	2.504e-05	0	0	0.0001	0	3.02e-05	0	0	3.84e-05	1	26028	rs777971267	6.843e-06	6.84e-06	4.085e-06	9.629e-06	2.52e-05	3.46e-06	2.52e-06	3.1e-06	2.24e-06	0	0	0	2.52e-05	0	0	7.195e-06	0	1.16e-05	6.569e-06	6.566e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.005	0.11217	B	0.000068	0.52346	D	0.137357	0.99858	0.45122	D	0.435	0.12660	N	3.6	0.04494	T	2.72	0.00186	N	0.38	0.42149	-0.9889	0.32878	T	0.007	0.02478	T	10	0.061726242	0.07783	T	0.007907	0.20981	T	0.076	0.22200	0.351	0.34922	0.313210971179	0.30940	0.38527139114687187	0.38442	0.175887073657	0.19803	0.460027933121	0.33314	T	0.068297	0.33421	T	-0.377169	0.03246	T	-0.598026	0.12977	T	0.123291723430157	0.14748	T	0.89621	0.63821	D	0.08091162	0.18565	0.08405893	0.19311	0.08091162	0.18565	0.08405893	0.19310	-3.359	0.14510	T	.	.	0.064	0.01668	B	.	.	1.779190	0.22621	15.69	0.2635569670154963	0.01258	0.83664	0.42766	D	AEFDBCI	0.253592	0.37306	N	-0.540853351849499	0.20772	1.097477	-0.303619817992574	0.27982	1.55666	0.691215006018793	0.22591	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.9	4.96	0.65153	3.123000	0.50147	0.389000	0.17868	0.599000	0.40250	0.991000	0.37257	0.027000	0.21108	0.860000	0.40782	0.0:0.9316:0.0:0.0684	14.920	0.70478	538	0.73119	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	652.98	38	chr16	22266836	.	C	T	652.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.714;DP=787;ExcessHet=0.0000;FS=0.972;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.88;ReadPosRankSum=-1.969e+00;SOR=0.855	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1362	20	0	1	0
chr16	22305171	22305171	G	T	exonic	POLR3E	.	nonsynonymous SNV	POLR3E:NM_001258033:exon3:c.G52T:p.A18S	.	.	435	1083	4	0	0	4	0.00184332	.	.	2728180	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.984	D	0.938	D	0.000	D	1.000	D	0.35	N	1.25	T	-0.874	T	0.129	T	0.704	2.686	14.94	5.51	2.590	7.683	18.196	0.355	0.0233327504264	.	.	0.0001	0	8.637e-05	0	0	5.993e-05	0	0.0007	0.00011	17	154602	rs777971329	6.844e-05	6.84e-05	3.133e-05	0.0001	0.0010	5.716e-05	5.328e-05	0.0008	0.0007	0	0	0	0	0	0.0009	7.199e-06	4.97e-05	0.0010	1.972e-05	1.97e-05	0	4.039e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	0	0	0.0006	0.836	0.02847	T	0.493	0.11515	T	0.984	0.60733	D	0.938	0.67350	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.025	0.25523	L	1.25	0.36512	T	1.08	0.01787	N	0.593	0.62273	-0.8737	0.50249	T	0.129	0.43747	T	10	0.34617624	0.51578	T	0.023333	0.46285	T	0.355	0.67600	0.871	0.96372	0.615425489776	0.61232	0.3715541876572807	0.37069	0.4440252109	0.44323	0.807734370232	0.83145	D	0.03476	0.23450	T	-0.237232	0.15703	T	-0.169892	0.57453	T	0.122856988850592	0.14706	T	.	.	.	0.13089438	0.30528	0.1617031	0.37599	0.13089438	0.30528	0.1617031	0.37598	-4.028	0.24221	T	.	.	0.114	0.29995	B	.;.;.;.;.	.;.;.;.;.	4.287146	0.65350	24.8	0.99322180179539366	0.59431	0.97297	0.73868	D	AEFDBCI	0.914515	0.87799	D	0.613497604169092	0.74028	6.063516	0.675020802043882	0.80484	7.30963	0.999999995327072	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	8.019000	0.89128	11.783000	0.96163	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.196	0.89754	466	0.78352	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1125.98	34	chr16	22305171	.	G	T	1125.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.061;DP=811;ExcessHet=0.0000;FS=1.450;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.01;ReadPosRankSum=-2.010e-01;SOR=0.866	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1292	20	0	1	0
chr16	22309031	22309031	C	T	exonic	POLR3E	.	nonsynonymous SNV	POLR3E:NM_001258034:exon4:c.C164T:p.T55M	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.94	D	0.000	D	1.000	D	2.34	M	0.77	T	-0.448	T	0.307	T	0.732	3.933	20.1	5.68	2.684	5.379	18.557	0.219	0.0322927546995	.	.	4.156e-05	0	0.0002	0	0.0002	0	0	0.0001	3.23e-05	5	154602	rs771336397	4.596e-05	4.652e-05	4.096e-05	5.101e-05	0.0010	3.672e-05	3.356e-05	0.0005	0.0003	2.994e-05	2.24e-05	0	0.0002	0	0.0010	1.804e-05	4.978e-05	0.0003	4.6e-05	4.597e-05	6.423e-05	2.691e-05	0.0004	2.109e-05	1.527e-05	7.285e-05	3.027e-05	9.651e-05	0	6.546e-05	0	0	0	0	0	0	0.0004	0.077	0.43708	T	0.052	0.61642	T	0.999	0.77913	D	0.94	0.67560	D	0.000011	0.62929	D	0.148023	0.999974	0.53665	D	2.7	0.79018	M	0.77	0.49642	T	-2.39	0.57762	N	0.654	0.68082	-0.4483	0.70456	T	0.307	0.67749	T	10	0.33992898	0.51070	T	0.032293	0.54161	D	0.219	0.51417	0.612	0.74535	0.773445237949	0.77136	0.5048416891517822	0.50406	1.14632707793	0.79085	0.617921113968	0.55436	T	0.086642	0.54048	T	-0.109071	0.34921	T	-0.115015	0.62210	T	0.30562181763757	0.25234	T	.	.	.	0.078986086	0.18019	0.12385482	0.29861	0.078986086	0.18019	0.12385482	0.29860	-7.214	0.55603	T	.	.	0.115	0.29060	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.916700	0.80938	27.4	0.99894625864747266	0.96819	0.95725	0.65889	D	AEFDBCI	0.539182	0.55626	D	0.732767236439897	0.81779	7.603109	0.702235702939528	0.82549	7.794436	0.999899784981878	0.45129	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	5.615000	0.67382	4.846000	0.45329	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:1.0:0.0:0.0	18.557	0.91042	463	0.78548	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1642.98	35	chr16	22309031	.	C	T	1642.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.361;DP=856;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.67;ReadPosRankSum=-4.200e-01;SOR=0.646	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr16	22534048	22534059	ACCCTCAGCTCC	-	exonic	NPIPB5	.	nonframeshift deletion	NPIPB5:NM_001135865:exon7:c.1065_1076del:p.P359_A362del,	.	.	501	975	46	0	0	46	0.0230461	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020	0	0	0	0	0.0045	0	0	3.84e-05	1	26028	rs761773343	0.0030	0.0046	0.0029	0.0032	0.0158	0.0030	0.0029	0.0127	0.0115	0.0006	0.0019	0.0144	0.0002	0.0051	0.0158	0.0024	0.0037	0.0087	0.0051	0.0060	0.0051	0.0052	0.0165	0.0048	0.0046	0.0130	0.0117	0.0009	0	0.0049	0.0230	0	0.0040	0.0099	0.0068	0.0072	0.0165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	5355.64	40	chr16	22534047	.	TACCCTCAGCTCC	T	5355.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.67;DP=2203;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=35.28;MQRankSum=-2.815e+00;QD=3.99;ReadPosRankSum=0.849;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:52,0:52:99:.:.:0,120,1800	18	0	3	0
chr16	22534079	22534079	C	A	exonic	NPIPB5	.	nonsynonymous SNV	NPIPB5:NM_001135865:exon7:c.C1096A:p.L366I,	.	.	574	945	3	0	0	3	0.00158479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.009	B	0.05	B	.	.	1.000	N	0.9	L	2.22	T	-0.973	T	0.032	T	0.166	-0.294	2.595	.	-0.000	0.882	.	0.029	0.00253055262335	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259853859	7.414e-05	0.0001	7.475e-05	7.355e-05	0.0004	6.158e-05	5.708e-05	0.0002	0.0002	0.0004	7.203e-05	0	2.601e-05	2.589e-05	0.0003	7.243e-05	3.708e-05	4.823e-05	0.0003	0.0016	0.0004	0.0003	0.0007	0.0003	0.0002	0.0004	0.0004	0.0007	0	0.0002	0	0	0.0002	0	0.0002	0	0.0004	0.076	0.34269	T	0.27	0.22359	T	0.009	0.15093	B	0.05	0.25278	B	.	.	.	.	0.999997	0.08975	N	.	.	.	2.22	0.18724	T	-0.73	0.21860	N	0.12	0.12484	-0.9727	0.36627	T	0.032	0.13811	T	7	0.043688387	0.03246	T	0.002531	0.05065	T	0.029	0.06676	0.116	0.02439	0.0138822411134	0.00435	0.0016298156997669913	0.00150	.	.	.	.	.	0.029313	0.21033	T	-0.443463	0.01234	T	-0.595345	0.13205	T	0.0103976514661646	0.00143	T	0.539746	0.23293	T	0.14563556	0.33374	0.09109716	0.21399	0.14563556	0.33374	0.09109716	0.21399	-2.903	0.09173	T	.	.	0.131	0.38711	B	.;.;.;.;.;.	.;.;.;.;.;.	0.428264	0.07985	4.702	0.84175498262196458	0.15140	0.08765	0.14646	N	AEFI	0.083874	0.16995	N	-1.06413077587105	0.07313	0.3393362	-1.14613705537636	0.06837	0.3305041	3.28878685552073E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	0.904000	0.28114	-1.738000	0.04817	0.116000	0.17634	0.043000	0.21118	0.000000	0.08366	0.003000	0.05239	.	.	.	934	0.15400	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	208.98	40	chr16	22534079	.	C	A	208.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.984e+00;DP=907;ExcessHet=0.0000;FS=2.171;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=35.41;MQRankSum=-3.406e+00;QD=2.25;ReadPosRankSum=2.22;SOR=0.413	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	20	0	1	0
chr16	22534423	22534434	TCCACCCTCAGC	-	exonic	NPIPB5	.	nonframeshift deletion	NPIPB5:NM_001135865:exon7:c.1440_1451del:p.P485_A488del,	.	.	650	831	35	1	5	42	0.0217775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0069	.	0.0082	0.0129	0.0036	0.0043	0.0034	0.0074	0.0133	0.0154	3.84e-05	1	26028	rs772371465	0.0006	0.0030	0.0005	0.0007	0.0014	0.0006	0.0005	0.0011	0.0011	9.841e-05	0.0001	0.0002	0.0005	0.0019	0.0004	0.0005	0.0006	0.0014	0.0022	0.0031	0.0028	0.0017	0.0124	0.0017	0.0016	0.0034	0.0018	0.0019	0.0135	0.0031	0.0028	0.0081	0.0015	0	0.0019	0	0.0124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	599.94	47	chr16	22534422	.	TTCCACCCTCAGC	T	599.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.51;DP=1296;ExcessHet=0.0000;FS=11.485;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=40.62;MQRankSum=0.484;QD=1.95;ReadPosRankSum=1.63;SOR=2.969	GT:AD:DP:GQ:PL	0/1:271,36:307:99:614,0,6815	20	0	1	0
chr16	22814764	22814764	G	A	exonic	HS3ST2	.	nonsynonymous SNV	HS3ST2:NM_006043:exon1:c.G154A:p.A52T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.001	B	0.0	B	0.018	N	0.590	N	0.69	N	0.94	T	-1.026	T	0.060	T	0.125	1.239	10.03	4.37	1.961	7.465	8.312	0.078	0.0319280072067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.377e-06	3.42e-06	0	2.769e-06	1.803e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.803e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	0.09543	T	0.525	0.10281	T	0.001	0.07471	B	0.0	0.01387	B	0.017592	0.27685	N	0.363026	0.589601	0.31031	N	1.245	0.31408	L	0.94	0.43672	T	-0.7	0.19933	N	0.118	0.10769	-1.0255	0.21919	T	0.060	0.25054	T	10	0.14571035	0.27636	T	0.031928	0.53888	D	0.078	0.22779	.	.	0.6862080656	0.68352	0.23500737149703788	0.23415	1.0185735783	0.75027	0.652140855789	0.60289	T	0.029801	0.21272	T	-0.257599	0.13183	T	-0.6078	0.12165	T	0.304473072290421	0.25187	T	0.579042	0.20891	T	0.08785469	0.20474	0.117363624	0.28332	0.08785469	0.20474	0.117363624	0.28332	-4.771	0.34252	T	.	.	0.069	0.03197	B	.	.	2.228517	0.28446	17.80	0.97769124500493254	0.35857	0.90818	0.52318	D	AEFDBHCI	0.420723	0.48743	N	-0.176940702094946	0.34096	1.942101	0.00561394100278144	0.39975	2.378455	0.999999926892038	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.666236	0.60216	0	0.63947	0.58350	0	.	.	4.37	4.37	0.51830	3.037000	0.49465	5.516000	0.48810	0.676000	0.76740	0.220000	0.24536	1.000000	0.68203	0.789000	0.37270	0.1097:0.0:0.8903:0.0	8.312	0.31238	943	0.12886	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1615.98	38	chr16	22814764	.	G	A	1615.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.912;DP=847;ExcessHet=0.0000;FS=2.189;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=1.58;SOR=0.913	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1103	20	0	1	0
chr16	23102333	23102333	A	G	exonic	USP31	.	nonsynonymous SNV	USP31:NM_020718:exon6:c.T1220C:p.I407T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.997	D	0.932	D	.	.	1.000	D	1.075	L	2.99	T	-1.115	T	0.049	T	0.705	3.474	17.78	5.54	2.108	8.926	14.878	0.237	0.0256117430824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.21385	T	0.18	0.29442	T	0.997	0.70673	D	0.932	0.66722	D	.	.	.	.	1	0.81001	D	1.67	0.42885	L	2.99	0.09262	T	0.51	0.02898	N	0.843	0.83885	-1.1154	0.02644	T	0.049	0.20868	T	9	0.7785554	0.77661	D	0.025612	0.48570	D	0.237	0.54074	0.546	0.66015	0.724231701982	0.72178	0.5290314476169267	0.52827	0.946334139909	0.72422	0.814740777016	0.84220	D	0.004558	0.03968	T	0.00952393	0.52960	T	-0.224096	0.52342	T	0.77726674079895	0.44880	D	0.809419	0.45992	T	0.14993371	0.34157	0.27048472	0.52940	0.14993371	0.34157	0.27048472	0.52939	-2.252	0.04300	T	.	.	0.936	0.85539	P	.	.	4.681449	0.74923	26.2	0.99688086119308827	0.79708	0.99133	0.91711	D	AEFBI	0.891293	0.82713	D	0.624988359746946	0.74757	6.187558	0.664192848206461	0.79670	7.132084	0.999999992010536	0.74766	0.706548	0.73137	0	0.601575	0.49859	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	8.911000	0.92272	11.212000	0.89433	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.878	0.70147	388	0.83355	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	97.18	34	chr16	23102333	.	A	G	97.18	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.722e+00;DP=939;ExcessHet=0.0000;FS=110.347;InbreedingCoeff=-0.0365;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.13;ReadPosRankSum=0.359;SOR=6.399	GT:AD:DP:GQ:PL	0/0:63,11:74:9:0,9,1279	20	0	1	0
chr16	23393263	23393263	C	T	exonic	COG7	.	nonsynonymous SNV	COG7:NM_153603:exon15:c.G1972A:p.A658T,	Congenital disorder of glycosylation, type IIe	.	.	.	.	.	.	.	.	.	.	703566	COG7_congenital_disorder_of_glycosylation|COG7-related_disorder	MONDO:MONDO:0012118,MedGen:C2931010,OMIM:608779,Orphanet:79333|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.6	T	0.279	B	0.066	B	0.000	D	1.000	D	0.975	L	0.94	T	-1.104	T	0.051	T	0.229	1.061	9.333	4.03	1.094	4.720	12.375	0.073	0.0166757735238	7.7e-05	0.000998403	0.0004	0.0002	0.0011	0.0034	0	1.511e-05	0.0023	6.231e-05	0.0003363	52	154602	rs115073082	0.0003	0.0003	0.0003	0.0003	0.0082	0.0003	0.0003	0.0075	0.0072	2.987e-05	0.0010	0	0.0082	1.872e-05	0	2.698e-05	0.0001	2.32e-05	0.0002	0.0002	0.0001	0.0003	0.0037	0.0001	0.0001	0.0024	0.0020	4.812e-05	0	0.0003	0	0.0037	0	0	5.881e-05	0	0	0.295	0.14743	T	0.342	0.17910	T	0.279	0.32056	B	0.066	0.27432	B	0.000000	0.84330	D	0.049599	0.999848	0.49770	D	1.9	0.50570	L	0.94	0.43672	T	-1.17	0.29933	N	0.443	0.48134	-1.1042	0.03620	T	0.051	0.21844	T	10	0.011495858	0.00251	T	0.016676	0.38050	T	0.073	0.21317	.	.	0.284539287134	0.28064	0.4792434155106962	0.47844	0.28602195282	0.31010	0.864694714546	0.91801	D	0.041579	0.25903	T	-0.489876	0.00651	T	-0.476457	0.24824	T	0.0135091314516237	0.00248	T	0.913409	0.69158	D	0.10181508	0.24053	0.09264649	0.21845	0.10181508	0.24053	0.09264649	0.21844	-3.74	0.19910	T	0.18223007271542266	0.23536	0.086	0.10691	B	.	.	2.842233	0.37502	20.5	0.87022526823624036	0.16934	0.84683	0.43769	D	ALL	0.321683	0.42441	N	-0.602202662218605	0.18877	0.9836445	-0.548693040299673	0.20841	1.124697	0.999999999960819	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.548927	0.17530	0	.	.	4.98	4.03	0.46115	4.812000	0.62303	5.898000	0.50850	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.753000	0.35893	0.0:0.9182:0.0:0.0818	12.375	0.54602	671	0.60868	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	3718.98	37	chr16	23393263	.	C	T	3718.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=1109;ExcessHet=0.0000;FS=3.834;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=-5.870e-01;SOR=0.507	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr16	23557328	23557328	T	C	exonic	EARS2	.	nonsynonymous SNV	EARS2:NM_001083614:exon1:c.A16G:p.R6G	Combined oxidative phosphorylation deficiency 12, Autosomal recessive	.	0	1504	18	0	0	18	0.00594845	.	.	140893	Leukoencephalopathy-thalamus_and_brainstem_anomalies-high_lactate_syndrome|EARS2-related_disorder|not_specified|not_provided	MONDO:MONDO:0013971,MedGen:C4706421,OMIM:614924,Orphanet:314051|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.0	B	0.0	B	0.022	N	1.000	N	0	N	1.2	T	-1.048	T	0.028	T	0.242	2.306	13.67	1.05	0.404	0.349	5.484	0.037	.	0.0041	0.00419329	0.0125	0.0026	0.0130	0	0.0013	0.0196	0	0.0090	0.0047477	734	154602	rs113722817	0.0073	0.0072	0.0073	0.0074	0.0114	0.0072	0.0072	0.0091	0.0083	0.0014	0.0069	0.0065	2.689e-05	0.0013	0.0114	0.0082	0.0063	0.0058	0.0049	0.0049	0.0051	0.0046	0.0080	0.0046	0.0045	0.0074	0.0072	0.0012	0	0.0055	0.0058	0	0.0004	0.0068	0.0080	0.0080	0.0044	0.023	0.48642	D	0.093	0.40426	T	0.0	0.02946	B	0.0	0.01387	B	0.021597	0.26803	N	0.381489	1	0.18198	N	0	0.06538	N	1.2	0.38556	T	-1.26	0.31778	N	0.301	0.34981	-1.0478	0.15016	T	0.028	0.11882	T	10	0.004332006	0.00088	T	.	.	.	0.037	0.09474	.	.	0.349870743963	0.34602	0.4687599814179169	0.46794	0.214983796661	0.24033	0.494522184134	0.38066	T	0.134706	0.46610	T	-0.432051	0.01441	T	-0.386423	0.34969	T	0.00631334472927374	0.00070	T	0.707729	0.31835	T	0.10470248	0.24754	0.13278492	0.31856	0.088645786	0.20686	0.1184578	0.28592	-5.099	0.38533	T	.	.	0.108	0.20313	B	.;.;.;.	.;.;.;.	1.958329	0.24878	16.56	0.87500689752274308	0.17272	0.67477	0.33447	D	AEFDGBHCI	0.043186	0.06796	N	-0.998109585377985	0.08645	0.4060867	-0.989902524221882	0.10011	0.5015554	0.999999999999847	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	4.99	1.05	0.19280	0.088000	0.14821	-0.032000	0.12782	0.661000	0.55757	0.000000	0.06391	0.039000	0.21534	0.072000	0.16771	0.1702:0.0:0.3526:0.4772	5.484	0.16032	309	0.87553	.;.;.;.	.	.	.	.	rs113722817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	131.98	35	chr16	23557328	.	T	C	131.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.370e-01;DP=643;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.28;ReadPosRankSum=0.212;SOR=0.551	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,1350	20	0	1	0
chr16	23690925	23690925	G	C	exonic	ERN2	.	nonsynonymous SNV	ERN2:NM_001308220:exon21:c.C2531G:p.A844G	.	.	418	1096	8	0	0	8	0.00363636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.955	P	0.871	P	0.000	D	1.000	D	3.165	M	1.46	T	-0.652	T	0.163	T	0.268	2.281	13.58	3.25	0.306	6.648	12.983	0.256	0.0362566802527	0.0061	0.00379393	0.0061	0.0006	0.0042	0	0.0008	0.0086	0.0033	0.0066	0.0061577	952	154602	rs56129167	0.0067	0.0067	0.0066	0.0067	0.0111	0.0066	0.0065	0.0089	0.0081	0.0013	0.0054	0.0025	5.038e-05	0.0011	0.0111	0.0076	0.0058	0.0057	0.0045	0.0045	0.0047	0.0042	0.0074	0.0042	0.0041	0.0068	0.0066	0.0012	0	0.0050	0.0037	0	0.0004	0.0068	0.0074	0.0052	0.0046	0.008	0.58626	D	0.008	0.67890	D	0.883	0.48537	P	0.696	0.54017	P	0.000008	0.62929	D	0.108387	0.999997	0.58761	D	2.56	0.74772	M	1.46	0.32238	T	-3.69	0.70432	D	0.331	0.55713	-0.6521	0.62622	T	0.163	0.49897	T	10	0.011900961	0.00258	T	0.036257	0.56875	D	0.256	0.56694	.	.	0.81614728916	0.81441	0.5763600142811136	0.57565	0.343511193933	0.36281	0.39019715786	0.23698	T	0.365229	0.73068	T	-0.460266	0.00979	T	-0.427943	0.30168	T	0.0691613059369251	0.08533	T	0.911209	0.71446	D	0.10167715	0.24019	0.25943178	0.51691	0.10167715	0.24019	0.25943178	0.51690	-11.167	0.80566	D	.	.	0.300	0.53017	B	.;.	.;.	3.287382	0.45070	22.1	0.96385354483013386	0.29634	0.99235	0.93223	D	AEFDBHCI	0.882883	0.81137	D	0.0809927769215171	0.45577	2.811882	-0.0374607007012318	0.38037	2.235413	0.99999957927638	0.74766	0.498214	0.20090	0	0.572659	0.20510	0	0.465395	0.07113	1	0.711	0.71501	0	.	.	5.22	3.25	0.36363	6.815000	0.75031	5.904000	0.50927	-0.104000	0.15758	1.000000	0.71638	1.000000	0.68203	0.011000	0.09372	0.1529:0.0:0.8471:0.0	12.983	0.57974	365	0.84644	KEN domain|KEN domain|PUB domain;KEN domain|KEN domain|PUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1107.98	39	chr16	23690925	.	G	C	1107.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.757;DP=795;ExcessHet=0.0000;FS=2.966;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=5.000e-03;SOR=0.409	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1110	20	0	1	0
chr16	23692298	23692298	C	T	exonic	ERN2	.	nonsynonymous SNV	ERN2:NM_001308220:exon17:c.G1978A:p.V660M	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	1.77	L	0.48	T	-0.649	T	0.258	T	0.592	4.177	21.6	3.66	0.706	2.328	8.638	0.329	0.0336579293171	0.0003	0.000399361	0.0003	0.0003	0.0003	0	0	0.0004	0	6.058e-05	0.0002587	40	154602	rs143193519	0.0005	0.0005	0.0005	0.0005	0.0006	0.0005	0.0005	0.0006	0.0006	8.961e-05	0.0003	0	2.519e-05	1.882e-05	0	0.0006	0.0005	1.159e-05	0.0003	0.0003	0.0004	0.0003	0.0008	0.0003	0.0002	0.0005	0.0004	9.62e-05	0	0.0008	0	0	0.0002	0	0.0005	0	0	0.002	0.72154	D	0.002	0.79402	D	0.963	0.55692	D	0.449	0.46066	P	0.000001	0.84330	D	0.000000	0.999987	0.54805	D	0.855	0.21307	L	0.48	0.55945	T	-2.66	0.56945	D	0.551	0.57690	-0.6494	0.62740	T	0.258	0.62889	T	10	0.19137722	0.34821	T	0.033658	0.55136	D	0.329	0.65126	.	.	0.86726825915	0.86597	0.7319072637607268	0.73135	0.57309359256	0.53376	0.725227534771	0.70810	T	0.326144	0.69679	T	-0.220623	0.17907	T	-0.222622	0.52484	T	0.139820381999016	0.16260	T	0.984602	0.94707	D	0.5066997	0.67487	0.6441828	0.79201	0.5066997	0.67488	0.6441828	0.79202	-9.429	0.70417	D	.	.	0.296	0.52688	B	.;.	.;.	4.000903	0.58953	24.0	0.99888041443816522	0.96281	0.92747	0.56447	D	AEFDGBCI	0.556489	0.56650	D	0.382624308960599	0.60479	4.237415	0.365951570720816	0.59473	4.125603	0.999999244312874	0.74766	0.660377	0.49826	0	0.572659	0.20510	0	0.696353	0.63694	0	0.711	0.71501	0	.	.	5.65	3.66	0.41111	2.384000	0.44017	1.153000	0.24496	0.599000	0.40250	1.000000	0.71638	0.579000	0.25612	0.998000	0.85391	0.1518:0.7687:0.0:0.0796	8.638	0.33123	365	0.84644	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1013.98	42	chr16	23692298	.	C	T	1013.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.165;DP=831;ExcessHet=0.0000;FS=1.612;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.94;ReadPosRankSum=0.505;SOR=0.902	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1242	20	0	1	0
chr16	23757554	23757554	C	T	exonic	CHP2	.	stopgain	CHP2:NM_022097:exon7:c.C562T:p.Q188X,	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	8.003	40	4.57	2.536	4.888	15.233	.	.	0.0034	0.00299521	0.0077	0.0003	0.0013	0	0.0532	0.0073	0.0187	0.0041	0.0066299	1025	154602	rs61731149	0.0056	0.0056	0.0054	0.0057	0.0043	0.0055	0.0054	0.0042	0.0042	0.0004	0.0014	0.0019	7.557e-05	0.0485	0.0005	0.0043	0.0042	0.0040	0.0070	0.0070	0.0052	0.0089	0.0064	0.0067	0.0065	0.0059	0.0057	0.0005	0	0.0003	0.0014	0	0.0549	0	0.0064	0.0019	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	0.000104	0.50451	D	0.076065	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.746	0.74553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279421	0.81266	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.206949	0.98615	40	0.99738847248574836	0.83337	0.96290	0.68418	D	AEFBI	0.062977	0.12139	N	0.947099820626235	0.93869	12.334	0.786206962780859	0.88817	9.727287	0.999993131620413	0.74766	0.648238	0.45900	0	0.59043	0.45803	0	0.693144	0.63139	0	0.564101	0.26826	0	.	.	4.57	4.57	0.55860	5.371000	0.65903	6.806000	0.56638	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	15.233	0.73096	872	0.31118	.	.	.	.	.	rs61731149	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1057.98	36	chr16	23757554	.	C	T	1057.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.730e-01;DP=898;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.53;ReadPosRankSum=1.54;SOR=0.665	GT:AD:DP:GQ:PL	0/1:67,44:111:99:1072,0,1695	20	0	1	0
chr16	24548962	24548962	C	T	exonic	RBBP6	.	nonsynonymous SNV	RBBP6:NM_006910:exon3:c.C284T:p.A95V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.003	B	0.004	B	0.220	N	0.857	N	-0.205	N	2.62	T	-1.010	T	0.042	T	0.226	-0.761	0.786	3.0	0.406	1.934	7.599	0.022	0.00496804992221	7.7e-05	.	9.764e-05	0	0.0003	0	0	8.451e-05	0.0028	0	6.47e-05	10	154602	rs145572792	2.744e-05	3.078e-05	2.456e-05	3.034e-05	0.0005	2.068e-05	1.821e-05	0.0001	7.557e-05	2.993e-05	8.994e-05	0	0	0	0.0005	1.802e-05	0	0.0001	2.629e-05	2.627e-05	2.571e-05	2.69e-05	4.412e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.414e-05	0	0	0	0	0	0	4.412e-05	0	0	0.298	0.14595	T	0.827	0.05327	T	0.0	0.11197	B	0.0	0.10090	B	0.220293	0.16154	N	0.635133	0.857406	0.28407	N	-0.145	0.04423	N	1.03	0.43279	T	0.24	0.14978	N	0.099	0.08088	-1.0102	0.26854	T	0.042	0.18035	T	10	0.028746516	0.01005	T	0.004968	0.12535	T	0.022	0.04323	.	.	0.15499578495	0.15088	0.23505639637972725	0.23420	0.808132428717	0.66601	0.358046412468	0.19101	T	0.001	0.26823	T	-0.370954	0.03546	T	-0.544925	0.17815	T	0.00863358799659611	0.00106	T	0.633837	0.26583	T	0.02123723	0.00716	0.03400295	0.02391	0.02123723	0.00716	0.03400295	0.02390	-3.535	0.19673	T	.	.	0.061	0.04316	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.263825	0.28933	17.96	0.53878930631816924	0.05026	0.26788	0.23093	N	AEFGBI	0.037075	0.05041	N	-0.920487014926032	0.10364	0.4948785	-0.680080412625064	0.17459	0.9284608	0.999974828294402	0.50053	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.25	3.0	0.33773	1.920000	0.39655	5.095000	0.47387	-1.100000	0.01511	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.1241:0.0753:0.0:0.8007	7.599	0.27233	465	0.78421	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1200.98	41	chr16	24548962	.	C	T	1200.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.206;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=1.82;SOR=0.718	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1201	20	0	1	0
chr16	24823615	24823615	C	G	exonic	TNRC6A	.	nonsynonymous SNV	TNRC6A:NM_001330520:exon24:c.C5550G:p.H1850Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.296	B	0.091	B	0.000	D	1.000	D	0.49	N	2.9	T	-0.909	T	0.181	T	0.658	0.577	7.114	5.64	2.638	3.275	19.710	0.070	0.00745683041952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416	0.10278	T	0.587	0.08870	T	0.106	0.32457	B	0.062	0.29943	B	0.000006	0.62929	D	0.109070	0.999999	0.58761	D	0.605	0.15622	N	2.89	0.27486	T	-2.73	0.62151	D	0.316	0.44761	-0.9091	0.46965	T	0.181	0.52767	T	10	0.24845925	0.42142	T	0.007457	0.19792	T	0.160	0.41473	0.177	0.08379	0.421483936565	0.41765	0.36058700466587434	0.35972	0.021854352103	0.02186	0.742125868797	0.73286	T	0.055263	0.34521	T	-0.0353623	0.46635	T	-0.288572	0.45923	T	0.471335291862488	0.31580	T	0.779122	0.41282	T	0.23340985	0.46144	0.28959912	0.54980	0.23340985	0.46144	0.28959912	0.54979	-1.789	0.02476	T	.	.	0.130	0.48998	B	.;.;.	.;.;.	2.635673	0.34287	19.58	0.89079624420416326	0.18494	0.86733	0.46077	D	AEFDBCI	0.319252	0.42271	N	0.247010542987415	0.53490	3.517744	0.37780555842138	0.60198	4.20487	0.999999994956089	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	3.524000	0.53250	5.956000	0.51737	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.710	0.96089	353	0.85335	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1567.98	35	chr16	24823615	.	C	G	1567.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.220e-01;DP=822;ExcessHet=0.0000;FS=0.695;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=0.715;SOR=0.588	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1217	20	0	1	0
chr16	24891019	24891019	C	T	exonic	SLC5A11	.	nonsynonymous SNV	SLC5A11:NM_001258412:exon8:c.C605T:p.P202L	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	1.24	L	-2.19	D	0.533	D	0.713	D	0.966	5.058	31	5.59	2.643	7.679	17.085	0.865	0.104272841356	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1022448043	1.231e-05	1.3e-05	8.167e-06	1.65e-05	0.0017	7.7e-06	6.35e-06	0.0009	0.0007	8.961e-05	2.236e-05	0	0	0	0.0017	0	6.623e-05	0	1.314e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0.0034	0	0	0	0.027	0.59928	D	0.08	0.63918	T	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.66	0.42513	L	-2.19	0.86815	D	-9.67	0.98589	D	0.904	0.93841	0.533	0.91000	D	0.713	0.90156	D	10	0.90579396	0.89944	D	0.104273	0.77877	D	0.865	0.95912	0.619	0.75347	0.782154788874	0.78014	0.8874508363741384	0.88714	0.669939924948	0.59385	0.691352546215	0.65900	T	0.196812	0.55330	T	0.388104	0.89216	D	0.319708	0.89080	D	0.999684929847717	0.98483	D	0.970103	0.89491	D	0.6266377	0.74119	0.46089074	0.68690	0.6266377	0.74120	0.46089074	0.68691	-9.079	0.70971	D	.	.	0.237	0.47039	B	.;.;.;.;.;.	.;.;.;.;.;.	5.238883	0.87945	29.4	0.99900284058958011	0.97199	0.97923	0.78155	D	AEFBI	0.956375	0.97487	D	0.727630521453352	0.81445	7.523489	0.736669652052853	0.85159	8.497858	0.99999999981475	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.59	5.59	0.84677	7.813000	0.84661	7.409000	0.58630	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.821000	0.38685	0.0:1.0:0.0:0.0	17.085	0.86484	830	0.39242	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1244.98	34	chr16	24891019	.	C	T	1244.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=823;ExcessHet=0.0000;FS=5.756;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.83;ReadPosRankSum=-7.030e-01;SOR=0.499	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1121	20	0	1	0
chr16	24939403	24939403	G	A	exonic	ARHGAP17	.	nonsynonymous SNV	ARHGAP17:NM_001006634:exon17:c.C1685T:p.A562V,	.	.	432	1083	6	1	0	8	0.00367985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.038	B	0.007	B	0.219	N	1.000	D	1.79	L	2.02	T	-1.105	T	0.034	T	0.08	1.334	10.38	4.34	1.389	3.736	7.876	0.051	.	0.0002	0.00778754	0.0059	0.0009	0.0006	0.0127	0	5.194e-05	0.0100	0.0353	0.0044954	695	154602	rs140774879	0.0021	0.0021	0.0013	0.0029	0.0280	0.0020	0.0020	0.0270	0.0267	0.0004	0.0001	0	0.0100	1.912e-05	0.0012	7.376e-05	0.0028	0.0280	0.0013	0.0013	0.0008	0.0018	0.0272	0.0012	0.0011	0.0234	0.0220	0.0005	0	0.0002	0	0.0085	0	0	0	0	0.0272	0.18	0.21968	T	0.268	0.22494	T	0.002	0.09854	B	0.001	0.04355	B	0.218691	0.16190	N	0.511596	1	0.81001	D	1.28	0.32218	L	2.02	0.21119	T	-0.89	0.24026	N	0.152	0.15609	-1.1054	0.03497	T	0.034	0.14813	T	10	0.0038097203	0.00071	T	.	.	.	0.051	0.14325	.	.	0.446291797366	0.44249	0.16689986995461314	0.16609	0.0474294838818	0.05171	0.513967037201	0.40778	T	0.021294	0.16605	T	-0.605132	0.00136	T	-0.620377	0.11155	T	0.00451468197758122	0.00048	T	0.676632	0.28519	T	0.03192977	0.03122	0.05096256	0.08107	0.03192977	0.03121	0.05096256	0.08106	-4.215	0.26968	T	.	.	0.082	0.08899	B	.	.	1.937727	0.24609	16.46	0.98373488109337481	0.40770	0.86306	0.45560	D	AEFBCI	0.211311	0.33711	N	-0.164969516175793	0.34600	1.976877	-0.0495382187399586	0.37510	2.19724	0.0452964690431503	0.14646	0.706548	0.73137	0	0.379588	0.06130	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.32	4.34	0.51267	2.758000	0.47245	1.519000	0.27078	0.676000	0.76740	0.999000	0.42656	0.602000	0.25724	0.409000	0.26983	0.1186:0.0:0.8814:0.0	7.876	0.28755	638	0.64280	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1233.98	33	chr16	24939403	.	G	A	1233.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.35;DP=782;ExcessHet=0.0000;FS=0.852;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.23;ReadPosRankSum=0.284;SOR=0.527	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1176	20	0	1	0
chr16	24939524	24939524	C	T	exonic	ARHGAP17	.	nonsynonymous SNV	ARHGAP17:NM_001006634:exon17:c.G1564A:p.A522T,	.	.	424	1009	86	3	0	92	0.0436019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.153	B	0.046	B	0.000	D	1.000	D	1.79	L	1.98	T	-1.094	T	0.031	T	0.125	2.253	13.49	3.05	0.697	2.859	6.989	0.038	.	0.0042	0.00479233	0.0078	0.0012	0.0039	0.0034	0.0014	0.0048	0.0151	0.0298	0.005388	833	154602	rs145791095	0.0050	0.0051	0.0043	0.0058	0.0296	0.0050	0.0049	0.0260	0.0246	0.0009	0.0049	0.0052	0.0016	0.0007	0.0296	0.0037	0.0066	0.0254	0.0041	0.0041	0.0037	0.0046	0.0220	0.0039	0.0038	0.0186	0.0173	0.0007	0	0.0060	0.0066	0.0021	0.0008	0.0306	0.0048	0.0104	0.0220	0.149	0.24758	T	0.306	0.19972	T	0.112	0.26290	B	0.01	0.14941	B	0.000482	0.43931	D	0.000000	0.984898	0.81001	D	0.835	0.21042	L	1.98	0.21865	T	-1.04	0.27259	N	0.234	0.26354	-1.0936	0.04959	T	0.031	0.13374	T	10	0.0037225187	0.00069	T	.	.	.	0.038	0.09825	.	.	0.322865848456	0.31899	0.30575841589917707	0.30488	0.0463152719668	0.05031	0.466221213341	0.34163	T	0.021479	0.16719	T	-0.577036	0.00201	T	-0.582724	0.14303	T	0.00726477508042566	0.00083	T	0.868913	0.57225	D	0.033290282	0.03517	0.05217492	0.08543	0.033290282	0.03517	0.05217492	0.08542	-3.364	0.14576	T	.	.	0.088	0.11845	B	.	.	2.853543	0.37683	20.6	0.99472172580248386	0.66419	0.80469	0.40098	D	AEFDBCI	0.103871	0.20799	N	-0.230510946799875	0.31887	1.792617	-0.143599984541642	0.33655	1.92746	0.021104402275387	0.13320	0.706548	0.73137	0	0.379588	0.06130	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.0	3.05	0.34272	2.965000	0.48892	4.856000	0.45423	0.599000	0.40250	0.992000	0.37556	1.000000	0.68203	0.839000	0.39591	0.0:0.7263:0.0:0.2737	6.989	0.23922	637	0.64373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2585.11	33	chr16	24939524	.	C	T	2585.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.55;DP=915;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.18;ReadPosRankSum=0.058;SOR=0.715	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1176	19	0	2	0
chr16	25217373	25217373	C	T	exonic	AQP8	.	nonsynonymous SNV	AQP8:NM_001169:exon2:c.C188T:p.T63I,	.	.	426	1095	1	0	0	1	0.000456413	.	.	2728190	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.759	P	0.303	B	0.056	N	1.000	N	0.46	N	-3.06	D	-0.306	T	0.525	D	0.162	0.649	7.480	0.65	0.261	0.920	10.808	0.279	0.101937293265	.	0.000199681	0.0001	0	8.639e-05	0	0	0.0002	0.0011	0	9.7e-05	15	154602	rs199576560	4.583e-05	4.583e-05	2.586e-05	6.601e-05	0.0003	3.661e-05	3.347e-05	8.861e-05	6.427e-05	0	0.0002	0	0	0	0.0003	4.856e-05	4.968e-05	0	5.252e-05	5.249e-05	5.139e-05	5.37e-05	0.0001	2.555e-05	1.829e-05	4.764e-05	3.339e-05	0	0	6.539e-05	0	0	0	0	0.0001	0	0	0.028	0.46129	D	0.164	0.32355	T	0.759	0.43487	P	0.303	0.41149	B	0.056023	0.22593	N	0.508710	0.999995	0.08975	N	0.725	0.18768	N	-3.06	0.92457	D	-2.19	0.49352	N	0.367	0.40864	-0.3057	0.74826	T	0.525	0.82322	D	10	0.17581025	0.32531	T	0.101937	0.77511	D	0.279	0.59619	.	.	0.914429185521	0.91357	0.5647228980051362	0.56399	0.489357506599	0.47703	0.3659247756	0.20246	T	0.572853	0.85886	D	-0.213051	0.18953	T	-0.27451	0.47364	T	0.070801896104205	0.08763	T	0.579642	0.20943	T	0.04730445	0.08065	0.065245956	0.13195	0.04730445	0.08065	0.065245956	0.13195	-4.436	0.30042	T	.	.	0.227	0.47261	B	.;.	.;.	1.467748	0.18910	13.99	0.95566397392544056	0.27250	0.15704	0.19041	N	AEFDBCI	0.152909	0.27768	N	-0.93751315324016	0.09975	0.4745245	-1.01595163720322	0.09434	0.4693536	0.0186308937735541	0.13080	0.500041	0.20204	0	0.624306	0.53593	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.36	0.65	0.16984	1.916000	0.39617	0.221000	0.16075	-0.852000	0.02700	0.004000	0.16614	0.000000	0.08366	0.227000	0.22653	0.0:0.6795:0.0:0.3205	10.808	0.45734	912	0.21483	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1021.98	34	chr16	25217373	.	C	T	1021.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.11;ReadPosRankSum=0.687;SOR=0.782	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1206	20	0	1	0
chr16	25224417	25224417	T	C	exonic	AQP8	.	nonsynonymous SNV	AQP8:NM_001169:exon4:c.T443C:p.V148A,	.	.	423	1097	1	1	0	3	0.0013655	.	.	3286076	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	0.722	P	0.42	B	0.052	N	0.980	N	1.595	L	-2.05	D	-0.230	T	0.531	D	0.213	2.605	14.67	5.36	2.014	5.783	13.293	0.394	0.0699501388821	.	.	0.0001	0	0	0	0	3.005e-05	0	0.0007	9.06e-05	14	154602	rs773838747	7.114e-05	7.114e-05	4.628e-05	9.626e-05	0.0008	5.98e-05	5.588e-05	0.0006	0.0006	0	0	0	0	0	0.0002	3.058e-05	4.968e-05	0.0008	2.627e-05	2.625e-05	2.57e-05	2.686e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0.0034	2.94e-05	0	0.0002	0.003	0.68238	D	0.051	0.48855	T	0.722	0.42387	P	0.42	0.45080	B	0.051732	0.22956	N	0.497847	0.97972	0.25162	N	1.745	0.45235	L	-2.05	0.85799	D	-2.13	0.48354	N	0.458	0.49783	-0.2295	0.76900	T	0.531	0.82583	D	10	0.31427723	0.48870	T	0.06995	0.70871	D	0.394	0.70924	0.423	0.46693	0.912223512337	0.91134	0.8354200535952137	0.83502	0.722490668574	0.62282	0.450436472893	0.32003	T	0.389704	0.75007	T	-0.267845	0.11997	T	-0.254924	0.49329	T	0.230829883937955	0.21991	T	0.715628	0.32820	T	0.19639854	0.41465	0.27284893	0.53199	0.19639854	0.41465	0.27284893	0.53198	-6.11	0.47190	T	.	.	0.427	0.61020	A	.;.	.;.	2.686919	0.35067	19.80	0.99384722183372809	0.62068	0.94517	0.61421	D	AEFDBI	0.726972	0.67546	D	0.22767316379507	0.52544	3.427905	0.25245756503039	0.52788	3.451421	0.999753282966633	0.42595	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.36	5.36	0.76624	5.834000	0.69064	7.694000	0.65937	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.088000	0.17685	0.0:0.0:0.0:1.0	13.293	0.59715	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	735.98	34	chr16	25224417	.	T	C	735.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.29;DP=759;ExcessHet=0.0000;FS=2.195;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=0.069;SOR=1.068	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1275	20	0	1	0
chr16	25692439	25692444	CCTCCG	-	exonic	HS3ST4	.	nonframeshift deletion	HS3ST4:NM_006040:exon1:c.22_27del:p.P15_P16del,	.	.	0	221	3	1	1	6	0.0111857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0481	0	0	0	.	0	0	0.0610	7.68e-05	2	26028	rs779793937	0.0005	0.0005	0.0004	0.0006	0.0083	0.0005	0.0005	0.0075	0.0072	9.488e-05	0.0002	0.0021	0.0001	0	0.0028	0.0002	0.0006	0.0083	0.0006	0.0006	0.0004	0.0008	0.0070	0.0005	0.0005	0.0051	0.0045	0.0002	0.0115	0.0003	0.0018	0.0002	0	0	0.0004	0	0.0070	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1161.94	33	chr16	25692438	.	TCCTCCG	T	1161.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=817;ExcessHet=0.0000;FS=4.087;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.03;ReadPosRankSum=-2.450e+00;SOR=1.390	GT:AD:DP:GQ:PL	0/1:28,30:58:99:1176,0,1024	20	0	1	0
chr16	27363679	27363679	G	A	exonic	IL4R	.	nonsynonymous SNV	IL4R:NM_001257406:exon10:c.G2327A:p.C776Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.009	B	0.003	B	0.001	N	1.000	N	0	N	3.06	T	-0.965	T	0.011	T	0.156	1.085	9.428	-4.05	-0.564	-1.943	1.638	0.048	0.00267536073436	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.38633	T	0.132	0.34477	T	0.009	0.15093	B	0.003	0.08700	B	0.001024	0.00727	N	3.532640	1	0.08975	N	0.345	0.11182	N	3.06	0.08634	T	-1.2	0.30555	N	0.084	0.06990	-0.9652	0.38171	T	0.011	0.04274	T	10	0.04179746	0.02868	T	0.002675	0.05463	T	0.048	0.13305	0.14	0.04369	0.119812018005	0.11559	0.05812819747927824	0.05753	0.249488963526	0.27528	0.299871504307	0.10382	T	0.071865	0.34312	T	-0.314577	0.07351	T	-0.689644	0.06410	T	0.0875999291916613	0.10931	T	0.387561	0.09552	T	0.054364152	0.10421	0.06864598	0.14364	0.054364152	0.10421	0.06864598	0.14364	-5.234	0.39285	T	0.11488501619721625	0.10216	0.090	0.14477	B	.;.;.	.;.;.	-0.986457	0.00790	0.026	0.46012673931490849	0.03654	0.02201	0.06424	N	AEFBCI	0.025778	0.01823	N	-1.61181419131981	0.01206	0.05246171	-1.64390945537551	0.01408	0.06363113	0.999922201023646	0.46280	0.743674	0.98306	0	0.702456	0.74545	0	0.630245	0.45026	0	0.711	0.71501	0	.	.	4.73	-4.05	0.03730	-1.886000	0.01710	-0.944000	0.06837	-1.056000	0.01626	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.126:0.288:0.3311:0.2549	1.638	0.02580	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1455.98	36	chr16	27363679	.	G	A	1455.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.890e+00;DP=970;ExcessHet=0.0000;FS=1.403;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=-2.026e+00;SOR=0.558	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr16	27511806	27511806	C	T	exonic	GTF3C1	.	nonsynonymous SNV	GTF3C1:NM_001286242:exon7:c.G1069A:p.V357M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.96	D	0.788	P	0.009	N	1.000	N	0.55	N	1.78	T	-1.113	T	0.060	T	0.479	2.463	14.19	3.32	1.360	1.482	6.934	0.084	0.0101505501189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	6.57e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.007	0.65419	D	0.011	0.65728	D	0.96	0.55278	D	0.788	0.57636	P	0.008994	0.30568	N	0.311059	0.999999	0.08975	N	0.695	0.17993	N	1.77	0.25841	T	-0.73	0.20576	N	0.542	0.56919	-1.1131	0.02817	T	0.060	0.24981	T	10	0.4194749	0.56766	T	0.010151	0.26346	T	0.084	0.24469	0.461	0.52916	0.196089822672	0.19227	0.2870860637048605	0.28621	1.5630790888	0.88064	0.478617936373	0.35867	T	0.330856	0.70100	T	-0.10443	0.35690	T	-0.387783	0.34813	T	0.384352616692363	0.28349	T	0.906109	0.66926	D	0.0667408	0.14389	0.059760444	0.11269	0.0667408	0.14389	0.059760444	0.11269	-4.596	0.32121	T	0.6194223081234906	0.68764	0.116	0.40344	B	.;.	.;.	3.480962	0.48608	22.6	0.99851298378790032	0.93102	0.42053	0.26793	N	AEFDBHCIJ	0.051058	0.08984	N	-0.0143063158120045	0.41209	2.460756	-0.0540124191134995	0.37317	2.183321	0.911181757980206	0.26359	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.64	3.32	0.37134	1.542000	0.35742	2.708000	0.34213	0.599000	0.40250	0.588000	0.27650	0.994000	0.32194	0.694000	0.33958	0.1304:0.6647:0.1271:0.0778	6.934	0.23632	557	0.71576	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1698.98	34	chr16	27511806	.	C	T	1698.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=874;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.36;ReadPosRankSum=0.123;SOR=0.664	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1292	20	0	1	0
chr16	28063189	28063189	T	C	exonic	GSG1L	.	nonsynonymous SNV	GSG1L:NM_001109763:exon1:c.A236G:p.N79S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.002	B	0.001	B	.	.	1.000	D	0	N	1.58	T	-1.004	T	0.026	T	0.019	0.089	4.481	-1.29	-0.410	0.439	2.235	0.035	.	.	0.00379393	0.0116	0	0.0217	0	.	0	0	0.0164	0.0009638	149	154602	rs562368259	0.0006	0.0007	0.0004	0.0009	0.0161	0.0006	0.0006	0.0151	0.0147	0	0	0	4.119e-05	0	0.0009	1.561e-05	0.0010	0.0161	0.0006	0.0006	0.0003	0.0009	0.0187	0.0005	0.0005	0.0156	0.0144	0	0	0	0	0.0002	0	0	1.48e-05	0	0.0187	0.708	0.04643	T	0.681	0.06325	T	0.0	0.09854	B	0.0	0.04355	B	.	.	.	.	1	0.81001	D	-0.345	0.03330	N	1.57	0.29342	T	-0.19	0.09965	N	0.051	0.04072	-1.0044	0.28636	T	0.026	0.10954	T	9	0.0043841302	0.00089	T	.	.	.	0.035	0.08770	0.384	0.40298	0.161926535498	0.15789	0.12197277890634466	0.12124	0.362311078198	0.37892	0.833653986454	0.87122	D	0.003228	0.02636	T	-0.724302	0.00026	T	-0.799561	0.01914	T	0.00849226843114254	0.00103	T	0.509249	0.16760	T	0.032950457	0.03418	0.05373024	0.09108	0.032950457	0.03417	0.05373024	0.09107	-0.011	0.00353	T	.	.	0.059	0.01387	B	.;.	.;.	1.231470	0.16264	12.43	0.68327704696393476	0.08624	0.23819	0.22198	N	AEFDBIJ	0.067952	0.13382	N	-0.899575166564681	0.10852	0.5206854	-0.820737209547006	0.13994	0.7288873	0.999634580598395	0.41205	0.455138	0.09556	0	0.578056	0.33634	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	1.46	-1.29	0.08805	-0.041000	0.12036	0.850000	0.22129	0.455000	0.21489	0.822000	0.30018	0.999000	0.35428	0.994000	0.71098	0.0:0.2224:0.3177:0.4599	2.235	0.03761	862	0.33134	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	851.98	44	chr16	28063189	.	T	C	851.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.193;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.68;ReadPosRankSum=0.072;SOR=0.758	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1005	20	0	1	0
chr16	28063202	28063202	T	C	exonic	GSG1L	.	nonsynonymous SNV	GSG1L:NM_001109763:exon1:c.A223G:p.T75A	.	.	267	1247	1	0	7	8	0.000400802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.0	B	0.0	B	.	.	1.000	D	0.345	N	1.59	T	-1.013	T	0.029	T	0.083	-0.255	2.774	-0.362	-0.148	-0.022	2.897	0.033	.	.	0.00419329	0.0029	0	0.0132	0	0	0.0005	0.0125	0.0036	0.0001682	26	154602	rs575891942	0.0008	0.0007	0.0008	0.0009	0.0130	0.0008	0.0008	0.0119	0.0114	0.0022	0.0008	0.0003	0.0130	0.0002	0.0010	0.0003	0.0018	0.0048	0.0015	0.0015	0.0014	0.0015	0.0086	0.0013	0.0013	0.0066	0.0059	0.0028	0	0.0003	0	0.0086	0.0001	0	0.0004	0.0019	0.0056	0.811	0.03028	T	0.508	0.14865	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	0.345	0.11182	N	1.59	0.28836	T	-0.45	0.14782	N	0.06	0.08786	-1.0130	0.25975	T	0.029	0.12409	T	9	0.0061700046	0.00139	T	.	.	.	0.033	0.08068	.	.	0.147330786459	0.14319	0.20334576646589508	0.20251	0.446931862471	0.44553	0.834683299065	0.87281	D	0.006061	0.05498	T	-0.314609	0.07348	T	-0.68969	0.06406	T	0.0154890481041365	0.00350	T	0.259474	0.04134	T	0.038631503	0.05182	0.057038188	0.10300	0.038631503	0.05182	0.057038188	0.10299	-1.196	0.01245	T	.	.	0.049	0.00175	B	.;.	.;.	1.487208	0.19133	14.11	0.59106838978432086	0.06147	0.09896	0.15546	N	AEFDBI	0.037971	0.05303	N	-0.921184478706343	0.10347	0.4940279	-0.865706259245662	0.12910	0.6668536	0.99952980648506	0.40175	0.455138	0.09556	0	0.578056	0.33634	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	0.779	-0.362	0.11935	-0.070000	0.11483	0.292000	0.16883	0.290000	0.18761	0.985000	0.35982	0.999000	0.35428	0.977000	0.56843	0.0:0.5615:0.0:0.4385	2.897	0.05344	862	0.33134	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	924.98	44	chr16	28063202	.	T	C	924.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.00;DP=860;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=0.149;SOR=0.739	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1005	20	0	1	0
chr16	28101678	28101678	C	T	exonic	XPO6	.	nonsynonymous SNV	XPO6:NM_015171:exon23:c.G3056A:p.R1019Q	.	.	411	1104	7	0	0	7	0.00316027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.328	B	0.018	B	0.000	D	1.000	D	1.095	L	-0.25	T	-0.902	T	0.170	T	0.612	3.760	19.09	6.17	2.941	6.091	11.604	0.142	0.0143823584698	0.0011	0.000599042	0.0011	0.0003	8.851e-05	0	0.0009	0.0015	0.0011	0.0016	0.0011255	174	154602	rs199516479	0.0017	0.0017	0.0017	0.0017	0.0020	0.0017	0.0016	0.0019	0.0019	0.0003	0.0005	0.0005	0	0.0006	0.0012	0.0020	0.0013	0.0013	0.0012	0.0012	0.0013	0.0012	0.0019	0.0011	0.0010	0.0015	0.0015	0.0005	0	0.0015	0.0006	0	0.0008	0	0.0018	0.0009	0.0019	0.186	0.32769	T	0.177	0.36901	T	0.033	0.20350	B	0.003	0.08700	B	0.000001	0.84330	D	0.053468	0.999998	0.58761	D	1.085	0.27262	L	-0.25	0.67011	T	-0.88	0.42763	N	0.396	0.43803	-0.9017	0.47814	T	0.170	0.51117	T	10	0.021247	0.00505	T	0.014382	0.34458	T	0.142	0.37995	.	.	0.305926609036	0.30200	0.4647590414621886	0.46394	0.751286644975	0.63797	0.608377575874	0.54086	T	0.064225	0.32380	T	-0.281019	0.10559	T	-0.183705	0.56177	T	0.0153889840809345	0.00344	T	0.938406	0.76842	D	0.11208949	0.26482	0.09186103	0.21618	0.11208949	0.26482	0.09186103	0.21617	-8.073	0.61615	D	.	.	0.106	0.41648	B	.;.;.;.	.;.;.;.	4.600384	0.72850	25.9	0.9985013532028495	0.92925	0.93986	0.59770	D	AEFDGBCI	0.801025	0.72685	D	0.15204112574382	0.48909	3.097413	0.361641968123802	0.59211	4.097181	0.999999999160783	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	6.171000	0.71829	5.965000	0.51894	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.9203:0.0:0.0797	11.604	0.50275	559	0.71409	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1057.98	34	chr16	28101678	.	C	T	1057.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.52;DP=756;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.53;ReadPosRankSum=-1.700e+00;SOR=0.784	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr16	28111909	28111909	T	C	exonic	XPO6	.	nonsynonymous SNV	XPO6:NM_015171:exon17:c.A2249G:p.N750S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.006	B	0.003	B	0.000	D	0.996	D	0.55	N	-0.21	T	-0.988	T	0.148	T	0.01	2.195	13.30	4.68	1.032	3.157	9.826	0.113	0.010587599031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.447	0.09101	T	0.381	0.15939	T	0.006	0.13644	B	0.003	0.08700	B	0.000005	0.62929	D	0.141686	0.995897	0.42910	D	-0.235	0.03917	N	-0.21	0.66294	T	-1.08	0.28084	N	0.102	0.08506	-0.9884	0.33002	T	0.148	0.47344	T	10	0.16549525	0.30931	T	0.010588	0.27302	T	0.113	0.31778	0.214	0.13354	0.082315109003	0.07666	0.25527248153738064	0.25441	0.515292743488	0.49441	0.464087545872	0.33871	T	0.031936	0.22263	T	-0.236662	0.15778	T	-0.577725	0.14748	T	0.528940320014954	0.33695	D	0.879712	0.59601	D	0.051574606	0.09493	0.06739872	0.13937	0.051574606	0.09492	0.06739872	0.13936	-2.074	0.03580	T	.	.	0.068	0.02861	B	.;.	.;.	2.276367	0.29103	18.01	0.98644919289228383	0.44110	0.95001	0.63078	D	AEFBI	0.251710	0.37153	N	-0.278291162022386	0.29989	1.667992	-0.0683140560240101	0.36708	2.13976	0.993497943498532	0.33238	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.77	4.68	0.58319	3.152000	0.50375	2.786000	0.34766	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0806:0.0:0.9194	9.826	0.40078	530	0.73653	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1664.98	39	chr16	28111909	.	T	C	1664.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.25;DP=857;ExcessHet=0.0000;FS=3.534;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.00;ReadPosRankSum=-3.680e-01;SOR=1.031	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr16	28317425	28317425	C	T	exonic	SBK1	.	nonsynonymous SNV	SBK1:NM_001024401:exon2:c.C34T:p.R12C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.83	P	0.23	B	0.117	N	0.988	D	0.55	N	-0.24	T	-0.724	T	0.168	T	0.396	4.737	26.4	5.05	2.331	3.491	15.898	0.112	0.0463721149034	.	0.000199681	5.066e-05	0.0001	8.724e-05	0	0	0	0.0011	0.0002	4.53e-05	7	154602	rs200833665	5.131e-05	5.13e-05	2.859e-05	7.426e-05	0.0007	4.192e-05	3.824e-05	0.0006	0.0005	2.987e-05	0	0	0	0	0	8.094e-06	4.968e-05	0.0007	1.969e-05	1.968e-05	1.285e-05	2.685e-05	7.215e-05	5.24e-06	2.45e-06	1.913e-05	1.03e-05	7.215e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.003	0.76473	D	0.83	0.46087	P	0.23	0.38212	B	0.117252	0.19160	N	0.531839	0.987717	0.40637	D	0.805	0.20218	L	-0.24	0.66834	T	-0.59	0.17624	N	0.427	0.46649	-0.7236	0.59284	T	0.168	0.50810	T	10	0.15608975	0.29404	T	0.046372	0.62428	D	0.112	0.31546	.	.	0.752771577926	0.75053	0.3644028206053124	0.36354	.	.	0.33933532238	0.16338	T	0.031346	0.21997	T	-0.257827	0.13156	T	-0.25175	0.49643	T	0.152702834391054	0.17317	T	0.846715	0.52677	T	0.12599371	0.29523	0.07287172	0.15770	0.12599371	0.29523	0.07287172	0.15770	-4.327	0.28554	T	.	.	0.119	0.24363	B	.	.	5.186382	0.86974	29.1	0.99940344071497345	0.99767	0.89556	0.50095	D	AEFDGBHCI	0.678004	0.64251	D	0.221898962546293	0.52263	3.401416	0.32626138936141	0.57088	3.873431	0.99999997128004	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.691587	0.68394	0	.	.	5.05	5.05	0.67566	3.646000	0.54137	7.619000	0.62229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	15.898	0.79131	829	0.39537	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1209.98	33	chr16	28317425	.	C	T	1209.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.935;DP=796;ExcessHet=0.0000;FS=3.069;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.40;ReadPosRankSum=1.76;SOR=0.427	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr16	28342966	28342966	-	GACAA	exonic	NPIPB6	.	frameshift insertion	NPIPB6:NM_001282524:exon7:c.918_919insTTGTC:p.P307Lfs*17,	.	.	436	1078	2	0	6	8	0.000926784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0004	0.0006	0	0	0.0008	0	0	7.68e-05	2	26028	.	0.0069	0.0080	0.0072	0.0066	0.0079	0.0068	0.0068	0.0078	0.0077	0.0018	0.0027	0.0027	0.0004	0.0120	0.0013	0.0079	0.0047	0.0013	0.0005	0.0006	0.0005	0.0006	0.0008	0.0004	0.0004	0.0006	0.0006	7.528e-05	0.0011	0.0004	0.0006	0	0.0012	0	0.0008	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	294.94	33	chr16	28342966	.	G	GGACAA	294.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.702e+00;DP=2064;ExcessHet=0.0000;FS=1.960;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=45.48;MQRankSum=1.61;QD=9.22;ReadPosRankSum=-3.600e+00;SOR=0.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:260,0:260:99:.:.:0,120,1800	20	0	1	0
chr16	28342996	28342996	C	T	exonic	NPIPB6	.	nonsynonymous SNV	NPIPB6:NM_001282524:exon7:c.G889A:p.D297N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	1.0	D	0.998	D	.	.	1.000	N	1.905	M	0.3	T	-0.824	T	0.286	T	0.03	1.370	10.51	.	0.088	0.055	.	0.116	0.0051847883527	.	.	1.214e-05	0	0	0	0	0	0	7.375e-05	3.84e-05	1	26028	rs765978381	1.616e-05	1.575e-05	5.592e-06	2.682e-05	0.0003	1.076e-05	8.99e-06	0.0002	0.0002	0	0	0	0	0	0	0	0	0.0003	7.114e-06	6.615e-06	0	1.465e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.026	0.46910	D	0.071	0.45530	T	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	1	0.08975	N	2.475	0.71894	M	0.3	0.58755	T	-2.89	0.60827	D	0.117	0.11483	-0.8235	0.53714	T	0.286	0.65812	T	7	0.20683223	0.36958	T	0.005185	0.13187	T	0.116	0.32463	0.574	0.69826	0.256237801699	0.25221	0.02780060632763059	0.02730	2.77570733876	0.98820	.	.	.	0.086171	0.37665	T	-0.435664	0.01371	T	-0.615269	0.11561	T	0.429085979971711	0.30027	T	0.933007	0.75346	D	0.30547476	0.53391	0.29466426	0.55497	0.30547476	0.53391	0.29466426	0.55496	-6.855	0.52967	T	.	.	0.244	0.47869	B	.;.	.;.	1.821152	0.23141	15.90	0.99462438755137261	0.65892	0.00273	0.01482	N	AEFI	0.024062	0.01430	N	-0.466158326051837	0.23195	1.24391	-0.79212310241979	0.14689	0.7687629	1.09666439460031E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	0.153000	0.16140	-6.647000	0.01342	0.168000	0.17747	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	824	0.40336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2514.11	33	chr16	28342996	.	C	T	2514.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.489e+00;DP=2095;ExcessHet=0.0000;FS=12.538;InbreedingCoeff=0.9821;MLEAC=2;MLEAF=0.048;MQ=44.40;MQRankSum=2.71;QD=27.33;ReadPosRankSum=0.646;SOR=0.247	GT:AD:DP:GQ:PL	0/0:260,0:260:99:0,120,1800	20	1	0	0
chr16	28342998	28342998	A	G	exonic	NPIPB6	.	nonsynonymous SNV	NPIPB6:NM_001282524:exon7:c.T887C:p.V296A,	.	.	434	1061	25	2	0	29	0.0134821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.057	B	0.045	B	.	.	1.000	N	-1.04	N	0.98	T	-1.045	T	0.024	T	0.092	-3.873	0.001	.	-1.885	0.061	.	0.044	.	.	0.0271565	0.0200	0.0006	0.0014	0.0002	0	0.0003	0.0296	0.1195	0.0145406	2248	154602	rs200052562	0.0075	0.0077	0.0043	0.0107	0.1146	0.0074	0.0073	0.1127	0.1119	0.0014	0.0001	0	0.0014	0.0002	0.0056	0.0002	0.0080	0.1146	0.0044	0.0050	0.0021	0.0068	0.1234	0.0041	0.0040	0.1148	0.1114	0.0010	0	0.0004	0	0.0005	0.0007	0.0035	0.0002	0.0005	0.1234	0.975	0.02030	T	0.943	0.02670	T	0.001	0.22878	B	0.01	0.24526	B	.	.	.	.	1	0.08975	N	-1.06	0.01056	N	0.98	0.42122	T	0.46	0.03140	N	0.034	0.04188	-1.0449	0.15854	T	0.024	0.10284	T	7	0.0017014742	0.00021	T	.	.	.	0.044	0.11924	0.259	0.20159	.	.	0.022247546848577257	0.02176	1.79552406398	0.91571	.	.	.	0.001281	0.00766	T	-0.735013	0.00022	T	-0.753818	0.03340	T	0.00354669917367727	0.00037	T	0.484552	0.15306	T	0.0794477	0.18149	0.16023187	0.37331	0.0794477	0.18149	0.16023187	0.37330	-6.591	0.50984	T	.	.	0.171	0.37501	B	.;.	.;.	-0.489869	0.01900	0.158	0.17341788670390942	0.00501	0.00130	0.00805	N	AEFI	0.021143	0.00911	N	-2.00398818505986	0.00207	0.008889332	-2.02435940126503	0.00272	0.01199653	1.38657288614749E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	-1.899000	0.01691	-1.028000	0.06557	-1.369000	0.01172	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	824	0.40336	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3186.99	33	chr16	28342998	.	A	G	3186.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.595e+00;DP=2083;ExcessHet=0.0000;FS=57.768;InbreedingCoeff=-0.0253;MLEAC=1;MLEAF=0.024;MQ=43.00;MQRankSum=6.63;QD=20.56;ReadPosRankSum=2.88;SOR=0.542	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:260,0:260:99:.:.:0,120,1800	20	0	1	0
chr16	28343175	28343175	G	A	exonic	NPIPB6	.	nonsynonymous SNV	NPIPB6:NM_001282524:exon7:c.C710T:p.A237V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.623	P	0.518	P	.	.	1.000	N	1.15	L	0.46	T	-0.964	T	0.139	T	0.254	1.185	9.818	0.167	0.276	0.704	.	0.094	0.00311485434991	.	0.00179712	0.0006	0.0071	0.0006	0	0	8.653e-05	0	0	0.0004995	13	26028	rs554173419	0.0002	0.0002	0.0002	0.0002	0.0075	0.0002	0.0002	0.0067	0.0064	0.0075	0.0002	0	0	0	0.0012	7.219e-06	0.0005	1.164e-05	0.0017	0.0017	0.0016	0.0019	0.0060	0.0016	0.0015	0.0053	0.0051	0.0060	0	0.0006	0	0	0	0	1.524e-05	0.0005	0	0.113	0.28772	T	0.061	0.49942	T	0.623	0.39993	P	0.518	0.48133	P	.	.	.	.	1	0.08975	N	2.475	0.71894	M	0.46	0.56281	T	-2.62	0.56630	D	0.341	0.40665	-0.9644	0.38330	T	0.139	0.45715	T	8	0.014442831	0.00304	T	0.003115	0.06756	T	0.094	0.27141	0.688	0.82558	0.392130519673	0.38828	0.007687900325693228	0.00734	2.16975927776	0.95486	.	.	.	0.052426	0.29158	T	-0.461932	0.00956	T	-0.434253	0.29453	T	0.0489806064449253	0.05320	T	0.861414	0.55526	D	0.411285	0.61506	0.37671778	0.62788	0.411285	0.61507	0.37671778	0.62788	-3.493	0.16334	T	.	.	0.357	0.57022	A	.;.	.;.	0.829219	0.12004	8.564	0.9898366607501774	0.49780	0.00493	0.02333	N	AEFI	0.031736	0.03452	N	-0.836421125766518	0.12387	0.6034664	-1.05262879312206	0.08652	0.4264737	1.14462678867054E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.167	0.167	0.14292	0.785000	0.26491	0.132000	0.15059	0.282000	0.18639	0.003000	0.16062	0.000000	0.08366	0.003000	0.05239	.	.	.	824	0.40336	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2648.0	42	chr16	28343175	.	G	A	2648.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.847e+00;DP=1130;ExcessHet=0.0000;FS=15.723;InbreedingCoeff=-0.0259;MLEAC=1;MLEAF=0.024;MQ=44.94;MQRankSum=2.45;QD=16.45;ReadPosRankSum=-4.010e-01;SOR=0.188	GT:AD:DP:GQ:PL	0/0:115,0:115:99:0,120,1800	20	0	1	0
chr16	28489306	28489306	G	A	exonic	CLN3	.	nonsynonymous SNV	CLN3:NM_001286109:exon2:c.C44T:p.S15L	Ceroid lipofuscinosis, neuronal, 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	203289	Neuronal_ceroid_lipofuscinosis_3|not_specified|not_provided|Neuronal_ceroid_lipofuscinosis|Inborn_genetic_diseases	MONDO:MONDO:0008767,MedGen:C0751383,OMIM:204200,Orphanet:228346|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.882	P	0.347	B	0.139	N	0.862	N	0.895	L	-0.26	T	0.366	D	0.800	D	0.184	1.323	10.34	5.48	2.736	5.406	12.206	0.291	0.0882932376902	.	.	3.887e-05	0	0.0002	0	0	1.749e-05	0	7.164e-05	2.59e-05	4	154602	rs769840061	4.792e-05	4.788e-05	5.312e-05	4.267e-05	0.0050	3.863e-05	3.543e-05	0.0036	0.0031	2.988e-05	0.0002	0	0	0	0.0050	2.249e-05	3.314e-05	6.98e-05	4.6e-05	4.593e-05	0	9.408e-05	5.88e-05	2.109e-05	1.527e-05	1.972e-05	1.124e-05	0	0	0	0	0	0	0.0068	5.88e-05	0.0005	0	0.148	0.59928	T	0.401	0.33000	T	0.579	0.44062	P	0.241	0.42509	B	0.139009	0.18358	N	0.586609	0.86229	0.35410	D	1.85	0.49092	L	-4.26	0.97078	D	-1.42	0.61284	N	0.204	0.38541	0.366	0.88587	D	0.800	0.93245	D	10	0.2196686	0.38643	T	0.088293	0.75104	D	0.291	0.61040	0.42	0.46200	0.929176017124	0.92844	0.3151448218445403	0.31427	0.235431891898	0.26076	0.371773540974	0.21086	T	0.725832	0.93750	D	-0.108283	0.35051	T	-0.108604	0.62722	T	0.143896624445915	0.16605	T	0.965203	0.87464	D	0.04372678	0.06865	0.050075732	0.07785	0.04372678	0.06864	0.050075732	0.07785	-4.8	0.37473	T	.	.	0.078	0.50324	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.072553	0.41302	21.3	0.98967051415570084	0.49461	0.77640	0.38198	D	AEFDBI	0.660123	0.63080	D	-0.0407768298404677	0.40014	2.369281	-0.0133917671902929	0.39110	2.313925	0.999999905987374	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	5.073000	0.64223	9.796000	0.81670	0.675000	0.71128	0.745000	0.29079	1.000000	0.68203	0.007000	0.07825	0.0:0.0:0.8297:0.1703	12.206	0.53661	716	0.55970	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1395.98	34	chr16	28489306	.	G	A	1395.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.497e+00;DP=801;ExcessHet=0.0000;FS=2.565;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=2.76;SOR=0.850	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1384	20	0	1	0
chr16	28595386	28595387	AG	-	exonic	SULT1A2	.	frameshift deletion	SULT1A2:NM_001054:exon4:c.352_353del:p.L118Vfs*76	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1170117401	2.052e-06	2.052e-06	1.361e-06	2.75e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	6.573e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3036.94	34	chr16	28595385	.	CAG	C	3036.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.624;DP=868;ExcessHet=0.0000;FS=2.021;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.87;MQRankSum=0.00;QD=19.59;ReadPosRankSum=-1.669e+00;SOR=0.864	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr16	28595447	28595447	T	C	exonic	SULT1A2	.	nonsynonymous SNV	SULT1A2:NM_001054:exon4:c.A292G:p.N98D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.0	B	0.342	N	1.000	N	-0.195	N	-1.58	D	-0.939	T	0.218	T	0.231	-0.095	3.533	2.68	0.069	-0.260	5.299	0.033	0.0112989523336	.	.	0.0002	0	0.0021	0.0005	0	0	0	0	3.84e-05	1	26028	rs747728105	8.277e-05	8.619e-05	9.801e-05	6.738e-05	0.0016	7.069e-05	6.618e-05	0.0013	0.0012	0.0003	0.0016	0	2.519e-05	0	0	2.518e-05	4.968e-05	6.956e-05	8.567e-05	9.856e-05	5.152e-05	0.0001	0.0003	4.971e-05	3.973e-05	0.0001	8.31e-05	0.0002	0	0.0003	0	0	0	0	0	0.0005	0	0.644	0.04957	T	0.612	0.07716	T	0.0	0.02946	B	0.0	0.01387	B	0.341651	0.13954	N	0.703382	1	0.08975	N	-0.55	0.02420	N	-1.58	0.81987	D	0.12	0.08971	N	0.1	0.08227	-0.9386	0.42837	T	0.218	0.58020	T	10	0.0084011555	0.00191	T	0.011299	0.28784	T	0.147	0.38986	0.321	0.30064	0.491928505054	0.48827	0.29963790717402866	0.29876	0.0796276468313	0.08961	0.488526552916	0.37233	T	0.077007	0.49539	T	-0.682764	0.00046	T	-0.759996	0.03113	T	0.00263492063492064	0.00027	T	0.00514564	0.00017	T	0.11884402	0.27995	0.07150821	0.15320	0.11884402	0.27994	0.07150821	0.15320	-3.136	0.11714	T	.	.	0.080	0.09239	B	.;.;.	.;.;.	0.112664	0.05119	1.647	0.80724049057996883	0.13338	0.00167	0.00991	N	AEFDBCI	0.084601	0.17147	N	-1.28701286428173	0.03831	0.1718413	-1.23307903385105	0.05386	0.2565171	0.999722324237139	0.42220	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.7	2.68	0.30839	-0.374000	0.07541	-0.726000	0.07683	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.308000	0.24690	0.0:0.4986:0.3188:0.1827	5.299	0.15077	682	0.59757	Sulfotransferase domain;Sulfotransferase domain;Sulfotransferase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1955.98	34	chr16	28595447	.	T	C	1955.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.35;DP=849;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.33;MQRankSum=-5.459e+00;QD=13.04;ReadPosRankSum=-6.860e-01;SOR=0.681	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr16	28757997	28757997	G	T	splicing	NPIPB9	NM_001287251:exon2:c.26-1G>T	.	.	.	.	583	908	26	5	0	36	0.0194384	0	0.004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	-1.035	0.213	.	-1.841	-1.790	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1393415693	0.0001	0.0022	9.244e-05	0.0001	0.0004	9.893e-05	9.081e-05	0.0002	0.0002	0	0.0004	0	3.105e-05	6.442e-05	0	0.0001	6.419e-05	0.0001	8.338e-05	0.0006	8.112e-05	8.578e-05	0.0003	4.507e-05	3.364e-05	6.364e-05	4.536e-05	5.428e-05	0	0	0	0	0	0	0.0001	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19599	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.562717	0.00244	T	-1.04608	0.00070	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.242196	0.02882	0.411	0.277422824348112	0.01392	0.00027	0.00265	N	AEFI	.	.	.	-0.681580609389436	0.16547	0.8440145	-1.15648077630497	0.06652	0.3209219	9.63470082261451E-6	0.01202	0.164513	0.03853	0	0.195528	0.04277	0	0.183335	0.04453	0	0.101684	0.03063	0	0.0932018	0.20989	.	.	.	-1.695000	0.02014	-7.369000	0.01171	-2.070000	0.00409	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	649	0.63102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	71.11	34	chr16	28757997	.	G	T	71.11	.	AC=2;AF=0.053;AN=38;DP=631;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.8829;MLEAC=1;MLEAF=0.026;MQ=40.00;QD=29.43;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,105,1557	18	1	0	2
chr16	28836352	28836352	C	T	exonic	ATXN2L	.	nonsynonymous SNV	ATXN2L:NM_148414:exon23:c.C3166T:p.R1056C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.001	B	0.0	B	0.063	N	1.000	D	.	.	0.79	T	-1.029	T	0.086	T	0.199	1.708	11.67	2.99	1.379	1.954	6.280	0.152	0.193664168697	.	.	8.372e-06	0	0	0	0	0	0	6.244e-05	1.29e-05	2	154602	rs371371679	5.475e-06	6.156e-06	0	1.101e-05	2.238e-05	2.36e-06	1.7e-06	1.94e-06	1.28e-06	0	2.238e-05	0	0	0	0	5.397e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.29029	T	0.083	0.41405	T	0.001	0.07471	B	0.0	0.01387	B	0.063001	0.22056	N	0.328529	0.853234	0.81001	D	.	.	.	0.79	0.49068	T	-0.62	0.18248	N	0.363	0.40465	-1.0287	0.20876	T	0.086	0.33578	T	9	0.11948708	0.22612	T	0.193664	0.86317	D	0.152	0.39956	0.178	0.08503	0.143184338766	0.13958	0.15584057251368172	0.15505	0.453934619371	0.45076	0.786255657673	0.79873	T	.	.	.	-0.23681	0.15759	T	-0.477307	0.24733	T	0.805246889591217	0.46714	D	0.728227	0.34274	T	.	.	.	.	.	.	.	.	-3.875	0.21928	T	.	.	0.483	0.63816	A	.	.	2.316654	0.29664	18.19	0.99598946261440147	0.74101	0.54440	0.29616	D	AEFDBHCI	0.173163	0.30023	N	-0.165848597331413	0.34563	1.974292	-0.0321579766992102	0.38272	2.252416	0.714734372951225	0.22861	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.06	2.99	0.33673	2.690000	0.46668	5.819000	0.50068	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.7796:0.0:0.2204	6.280	0.20213	311	0.87433	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	108.98	37	chr16	28836352	.	C	T	108.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.643e+00;DP=835;ExcessHet=0.0000;FS=70.215;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.25;ReadPosRankSum=1.22;SOR=6.183	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1253	20	0	1	0
chr16	28914449	28914451	GTT	-	exonic	RABEP2	.	nonframeshift deletion	RABEP2:NM_024816:exon5:c.679_681del:p.N227del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1445216229	6.159e-06	6.156e-06	5.447e-06	6.879e-06	0.0003	2.9e-06	2.1e-06	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	2.698e-06	1.656e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	910.94	34	chr16	28914448	.	AGTT	A	910.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.970e-01;DP=756;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.59;ReadPosRankSum=-5.300e-01;SOR=0.622	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1077	20	0	1	0
chr16	28951102	28951102	C	A	exonic	NFATC2IP	.	nonsynonymous SNV	NFATC2IP:NM_032815:exon1:c.C91A:p.R31S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.901	P	0.372	B	0.553	N	0.956	N	1.7	L	2.08	T	-1.047	T	0.041	T	0.257	2.663	14.86	0.772	0.319	-0.031	3.635	0.027	0.0164782271738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.35349	T	0.311	0.19660	T	0.649	0.40609	P	0.097	0.30390	B	0.552894	0.11417	N	0.708059	0.999988	0.26319	N	1.545	0.39105	L	2.08	0.20255	T	-0.63	0.18459	N	0.156	0.16168	-1.0467	0.15332	T	0.041	0.17827	T	10	0.11729315	0.22147	T	0.016478	0.37757	T	0.027	0.05988	0.275	0.22687	0.32053947749	0.31673	0.2124387116668452	0.21159	0.295307434607	0.31932	0.657034516335	0.60986	T	0.114812	0.43291	T	-0.211829	0.19122	T	-0.542054	0.18094	T	0.821340084075928	0.47872	D	0.510449	0.16283	T	0.11430433	0.26985	0.09716936	0.23119	0.11430433	0.26985	0.09716936	0.23118	-4.814	0.34754	T	.	.	0.214	0.44240	B	.	.	1.751402	0.22283	15.56	0.9765081578557302	0.35137	0.04123	0.09600	N	AEFGBHCI	0.039036	0.05613	N	-0.235978105990982	0.31667	1.777965	-0.2803667030328	0.28744	1.605117	0.99999999970184	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.17	0.772	0.17655	-0.050000	0.11859	-0.368000	0.09627	0.529000	0.24592	0.735000	0.28974	0.000000	0.08366	0.080000	0.17246	0.1953:0.561:0.0:0.2437	3.635	0.07685	472	0.77968	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1280.98	89	chr16	28951102	.	C	A	1280.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.600e-01;DP=805;ExcessHet=0.0000;FS=3.993;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.39;ReadPosRankSum=-5.100e-01;SOR=0.924	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1144	20	0	1	0
chr16	28984262	28984262	G	A	exonic	SPNS1	.	nonsynonymous SNV	SPNS1:NM_001142449:exon10:c.G1328A:p.R443H	.	.	426	1079	14	3	0	20	0.00918274	.	.	2735894	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.982	D	0.000	D	1.000	D	1.525	L	1.66	T	-0.825	T	0.149	T	0.512	4.952	28.8	4.45	2.311	6.756	14.639	0.145	.	0.0035	0.00279553	0.0044	0.0006	0.0042	0.0001	0.0003	0.0063	0.0121	0.0022	0.0042626	659	154602	rs149610167	0.0048	0.0048	0.0048	0.0048	0.0264	0.0047	0.0047	0.0230	0.0217	0.0016	0.0062	0.0072	0	0.0010	0.0264	0.0051	0.0063	0.0024	0.0046	0.0046	0.0046	0.0046	0.0111	0.0044	0.0042	0.0097	0.0092	0.0013	0.0384	0.0111	0.0081	0.0002	0.0007	0.0646	0.0052	0.0118	0.0029	0.006	0.61437	D	0.026	0.55759	D	0.999	0.90584	D	0.854	0.75477	P	0.000001	0.84330	D	0.000000	0.999991	0.58761	D	1.735	0.44892	L	1.48	0.39990	T	-0.73	0.22294	N	0.437	0.55366	-0.8253	0.53600	T	0.149	0.47540	T	10	0.006913781	0.00157	T	.	.	.	0.145	0.38592	.	.	0.394990421082	0.39112	0.7175958263630094	0.71702	1.70229230814	0.90338	0.620524287224	0.55803	T	0.266618	0.63858	T	-0.517054	0.00458	T	-0.508949	0.21424	T	0.0263335722069468	0.01451	T	0.969203	0.88895	D	0.13293906	0.30938	0.12021998	0.29014	0.13293906	0.30938	0.12021998	0.29014	-3.639	0.20268	T	.	.	0.167	0.50398	B	.;.;.;.;.	.;.;.;.;.	5.522010	0.91790	32	0.99957821351955689	0.99986	0.98392	0.82308	D	AEFDBI	0.739719	0.68418	D	0.642076983753852	0.75855	6.380645	0.620311877414022	0.76417	6.487071	0.999999999768279	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.45	4.45	0.53365	4.278000	0.58741	11.772000	0.95887	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.0:1.0:0.0	14.639	0.68310	475	0.77788	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1205.98	33	chr16	28984262	.	G	A	1205.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=841;ExcessHet=0.0000;FS=3.394;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=0.361;SOR=0.649	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1065	20	0	1	0
chr16	29381691	29381691	G	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.C3241G:p.R1081G,	.	.	553	960	1	5	3	14	0.00569653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	.	.	1.000	N	0	N	0.24	T	-1.009	T	0.089	T	0.112	0.803	8.221	.	0.064	0.064	.	0.080	0.00416674162864	.	.	.	.	.	.	.	.	.	.	.	.	.	rs528606058	0.0001	6.51e-05	0.0001	9.738e-05	0.0013	8.036e-05	7.256e-05	0.0003	0.0002	0	7.069e-05	0	0	0	0.0013	0.0001	0.0002	9.88e-05	5.471e-05	4.739e-05	2.05e-05	9.389e-05	6.314e-05	2.099e-05	1.361e-05	1.675e-05	8.64e-06	0	0	0	0	0	0	0	6.314e-05	0.0018	0	0.102	0.30235	T	0.092	0.39954	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.24	0.30952	L	0.24	0.59583	T	-0.96	0.25551	N	0.168	0.17828	-1.0094	0.27105	T	0.089	0.34160	T	5	0.09611273	0.17216	T	0.004167	0.10026	T	0.080	0.23350	0.251	0.18912	0.433823933641	0.42998	0.0020538258508922516	0.00190	.	.	.	.	.	0.012001	0.10618	T	-0.343938	0.05120	T	-0.532826	0.19006	T	0.0840512334389132	0.10497	T	0.473853	0.14122	T	0.09276863	0.21772	0.1569316	0.36719	0.09276863	0.21772	0.1569316	0.36718	-6.945	0.53632	T	.	.	0.358	0.57091	A	.	.	1.864911	0.23687	16.11	0.91891882053020202	0.21210	0.00341	0.01769	N	AEFDI	0.048526	0.08288	N	-0.945013095367644	0.09805	0.4656869	-1.1341917360785	0.07055	0.3417709	7.73663240632492E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	0.089000	0.14843	0.481000	0.18806	0.093000	0.17603	0.024000	0.20007	0.001000	0.17328	0.025000	0.12405	.	.	.	779	0.47767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1364.98	33	chr16	29381691	.	G	C	1364.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.334e+00;DP=673;ExcessHet=0.0000;FS=30.573;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=28.89;MQRankSum=-2.174e+00;QD=20.07;ReadPosRankSum=-2.527e+00;SOR=1.192	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1267	20	0	1	0
chr16	29382024	29382024	G	A	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.C2908T:p.R970W,	.	.	722	799	0	1	0	2	0.00125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	.	.	.	.	.	.	1.000	N	0	N	1.73	T	-1.000	T	0.030	T	0.119	1.397	10.60	.	.	-2.250	.	0.006	.	.	0.0429313	0.0033	0.1404	0	0	0	0.0003	0	0	0.0082603	215	26028	rs534726810	0.0026	0.0017	0.0031	0.0021	0.0864	0.0025	0.0024	0.0826	0.0811	0.0864	0.0042	0	0.0004	0	0.0015	0.0001	0.0055	0.0001	0.0078	0.0070	0.0070	0.0088	0.0384	0.0069	0.0066	0.0338	0.0321	0.0384	0	0.0035	0	0	0	0.0500	0.0001	0.0072	0	0.188	0.21304	T	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.73	0.26445	T	-0.71	0.20145	N	0.102	0.08506	-1.0005	0.29774	T	0.030	0.12804	T	4	0.0018253922	0.00024	T	.	.	.	0.006	0.00375	.	.	0.344945010812	0.34105	0.02946292166873099	0.02895	.	.	.	.	.	0.009751	0.08853	T	-0.605946	0.00134	T	-0.645912	0.09243	T	0.0180390439525152	0.00528	T	0.890711	0.62461	D	0.04921157	0.08703	0.07283446	0.15757	0.04921157	0.08703	0.07283446	0.15757	-9.716	0.72194	D	.	.	0.505	0.64821	A	.	.	2.103108	0.26757	17.23	0.99634914644411432	0.76264	0.00069	0.00489	N	AEFI	0.070102	0.13903	N	-0.677965854600027	0.16651	0.8502135	-0.788579293077805	0.14775	0.773781	1.09648973830877E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	0.161000	0.16298	-1.454000	0.05403	0.172000	0.17770	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	.	.	.	779	0.47767	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	568.33	33	chr16	29382024	.	G	A	568.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.31;DP=793;ExcessHet=0.0000;FS=4.364;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=39.72;MQRankSum=2.47;QD=10.72;ReadPosRankSum=2.37;SOR=1.528	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1267	19	0	1	1
chr16	29382999	29382999	G	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.C1933G:p.P645A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	N	0.55	N	1.72	T	-1.009	T	0.043	T	0.109	0.946	8.859	.	.	-1.905	.	0.031	0.0211419618282	.	.	8.583e-06	0	0	0	0	1.566e-05	0	0	3.84e-05	1	26028	rs756879841	1.028e-05	1.026e-05	1.227e-05	8.265e-06	1.349e-05	6.17e-06	4.89e-06	8.1e-06	6.42e-06	0	0	0	0	0	0	1.349e-05	0	0	2.066e-05	9.886e-05	1.341e-05	2.833e-05	1.516e-05	5.49e-06	2.52e-06	.	.	0	0	0	0.0006	0	0	0	1.516e-05	0	0	0.0	0.91255	D	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	1.72	0.26588	T	-0.91	0.24460	N	0.091	0.06990	-1.0086	0.27354	T	0.043	0.18326	T	4	0.087445915	0.14963	T	0.021142	0.43862	T	0.031	0.07369	0.338	0.32816	0.139678290688	0.13603	0.0010482649143814852	0.00096	.	.	.	.	.	0.011047	0.09905	T	-0.251301	0.13939	T	-0.598753	0.12915	T	0.0998966606523281	0.12346	T	0.514049	0.16524	T	0.08446088	0.19549	0.13631544	0.32614	0.08446088	0.19549	0.13631544	0.32613	-10.044	0.74175	D	.	.	0.551	0.66812	A	.	.	0.947988	0.13241	9.741	0.91839566063827771	0.21150	0.00090	0.00598	N	AEFDIJ	0.023317	0.01283	N	-0.570147359918371	0.19857	1.042493	-0.707427910388993	0.16775	0.8890332	1.09648973830877E-6	0.01202	0.722319	0.85440	0	0.698795	0.70079	0	0.653264	0.51672	0	0.491896	0.07777	0	.	.	.	.	.	0.189000	0.16845	-1.114000	0.06289	0.190000	0.17853	0.025000	0.20085	0.000000	0.08366	0.026000	0.12556	.	.	.	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3092.98	42	chr16	29382999	.	G	C	3092.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.610e-01;DP=1006;ExcessHet=0.0000;FS=7.842;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=51.91;MQRankSum=-7.856e+00;QD=13.81;ReadPosRankSum=-1.816e+00;SOR=1.194	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,105,1361	20	0	1	0
chr16	29383022	29383022	C	G	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.G1910C:p.R637P,	.	.	537	983	2	0	0	2	0.00101626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	.	.	.	.	.	.	1.000	N	0.55	N	2.41	T	-0.972	T	0.025	T	0.1	-0.677	1.045	.	0.073	0.064	.	0.007	0.00137807169732	.	0.00159744	0.0008	0.0003	0.0007	0.0024	0	0.0009	0	0.0002	0.0006662	103	154602	rs573087265	6.601e-05	7.329e-05	4.784e-05	8.439e-05	0.0002	5.523e-05	5.133e-05	0.0001	8.802e-05	2.997e-05	2.242e-05	0	0.0002	0	0	6.487e-05	0.0002	2.401e-05	0.0003	0.0008	0.0003	0.0003	0.0029	0.0002	0.0002	0.0017	0.0013	0.0003	0	0.0003	0	0.0029	0	0	0.0002	0	0.0002	0.291	0.14945	T	0.321	0.19073	T	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	1.04	0.26193	L	2.41	0.15492	T	0.71	0.02130	N	0.141	0.14054	-0.9718	0.36819	T	0.025	0.10777	T	5	0.008448452	0.00192	T	0.001378	0.02011	T	0.007	0.00512	0.35	0.34760	0.170165803431	0.16609	0.038846008794788535	0.03830	.	.	.	.	.	0.004596	0.03998	T	-0.486403	0.00680	T	-0.753693	0.03344	T	0.0267502387412079	0.01509	T	0.393061	0.09795	T	0.17190467	0.37851	0.22630191	0.47603	0.17190467	0.37851	0.22630191	0.47602	0.947	0.00139	T	.	.	0.340	0.55903	B	.	.	0.928524	0.13039	9.541	0.49463438770195678	0.04214	0.00214	0.01215	N	AEFDI	0.078068	0.15743	N	-0.918703182555413	0.10404	0.4970577	-1.11952203456524	0.07328	0.3559979	7.73979907486865E-6	0.01202	0.645754	0.44609	0	0.696144	0.67643	0	0.653264	0.51672	0	0.491896	0.07777	0	.	.	.	.	.	-2.015000	0.01536	-1.993000	0.04377	-2.014000	0.00440	0.005000	0.17040	0.000000	0.08366	0.005000	0.06747	.	.	.	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3976.98	42	chr16	29383022	.	C	G	3976.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.213;DP=1054;ExcessHet=0.0000;FS=4.133;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.41;MQRankSum=-6.829e+00;QD=14.62;ReadPosRankSum=2.26;SOR=0.942	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,105,1361	20	0	1	0
chr16	29383028	29383028	C	G	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.G1904C:p.R635P,	.	.	530	989	1	0	2	3	0.000505306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	.	.	.	.	.	.	1.000	N	-0.55	N	2.17	T	-1.003	T	0.014	T	0.061	-0.582	1.386	.	-2.328	-2.162	.	0.043	0.00341195000851	.	.	0.0007	0.0003	0.0010	0.0007	0	0.0009	0	0.0004	0.0003074	8	26028	rs138595165	7.048e-05	9.046e-05	6.051e-05	8.056e-05	0.0003	5.906e-05	5.512e-05	0.0002	0.0001	6.335e-05	4.651e-05	0	0.0003	0	0	6.943e-05	0.0001	4.691e-05	0.0004	0.0022	0.0004	0.0005	0.0008	0.0003	0.0003	0.0006	0.0005	0.0008	0	0.0008	0.0003	0.0008	0	0	0.0002	0	0	0.221	0.18889	T	0.293	0.20811	T	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	-0.895	0.01383	N	2.17	0.19020	T	-0.53	0.16393	N	0.129	0.12341	-1.0028	0.29109	T	0.014	0.05369	T	5	0.027951658	0.00933	T	0.003412	0.07664	T	0.043	0.11576	0.472	0.54699	0.0954503805726	0.09146	0.0029045590469320435	0.00270	.	.	.	.	.	0.007658	0.07052	T	-0.718026	0.00028	T	-0.799044	0.01926	T	0.0207641019378915	0.00776	T	0.393061	0.09795	T	0.095700435	0.22528	0.14224006	0.33846	0.095700435	0.22527	0.14224006	0.33845	2.451	0.00034	T	.	.	0.224	0.45569	B	.	.	-0.346083	0.02421	0.273	0.55329711324615405	0.05320	0.00017	0.00201	N	AEFDI	0.014128	0.00213	N	-1.80391883393766	0.00535	0.02306132	-1.94951420007606	0.00390	0.01722129	3.22638092691484E-4	0.06540	0.645754	0.44609	0	0.696144	0.67643	0	0.653264	0.51672	0	0.491896	0.07777	0	.	.	.	.	.	-2.015000	0.01536	-1.212000	0.06011	-2.014000	0.00440	0.001000	0.13787	0.001000	0.17328	0.001000	0.02609	.	.	.	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	4131.98	42	chr16	29383028	.	C	G	4131.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.57;DP=1071;ExcessHet=0.0000;FS=4.752;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.77;MQRankSum=-6.640e+00;QD=14.55;ReadPosRankSum=2.67;SOR=0.958	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,105,1361	20	0	1	0
chr16	29383301	29383301	T	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.A1631G:p.H544R,	.	.	539	915	66	2	0	70	0.0368421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87	T	.	.	.	.	.	.	1.000	N	0	N	2.37	T	-0.953	T	0.015	T	0.016	-1.688	0.012	.	.	.	.	0.123	0.102607754237	.	.	0.0034	0.0006	0.0027	0.0010	0.0051	0.0041	0.0070	0.0029	0.0001153	3	26028	rs376109229	0.0004	0.0045	0.0004	0.0004	0.0008	0.0004	0.0004	0.0004	0.0004	0.0002	0.0006	0.0016	0.0002	0.0011	0.0008	0.0003	0.0005	0.0006	0.0008	0.0028	0.0007	0.0008	0.0010	0.0006	0.0006	0.0008	0.0007	0.0004	0	0.0010	0.0004	0	0.0010	0.0052	0.0010	0.0006	0.0003	0.714	0.03996	T	0.893	0.03108	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.49	0.02651	N	2.37	0.15964	T	0.3	0.04091	N	0.065	0.03726	-0.9529	0.40468	T	0.015	0.06282	T	4	0.010405421	0.00232	T	0.102608	0.77617	D	0.123	0.34020	0.182	0.09004	0.0666544352282	0.05500	0.017460914292579344	0.01701	.	.	.	.	.	0.002187	0.01585	T	-0.441885	0.01260	T	-0.872514	0.00719	T	0.00853633190419786	0.00104	T	0.472453	0.14032	T	0.05944767	0.12081	0.08600925	0.19898	0.05944767	0.12081	0.08600925	0.19897	0.7	0.00176	T	.	.	0.119	0.24498	B	.	.	-0.050767	0.03944	0.880	0.27293411967531173	0.01348	0.00096	0.00628	N	AEFI	0.029149	0.02698	N	-0.519074859421896	0.21463	1.139253	-0.565229626340505	0.20402	1.099045	1.09648973830877E-6	0.01202	0.651	0.46895	0	0.708844	0.79440	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	.	.	.	-1.331000	0.02779	-1.556000	0.05178	-0.897000	0.02353	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	774	0.48577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	63.33	42	chr16	29383301	.	T	C	63.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.21;DP=1385;ExcessHet=0.0000;FS=21.340;InbreedingCoeff=-0.0374;MLEAC=1;MLEAF=0.025;MQ=52.82;MQRankSum=-1.098e+00;QD=0.34;ReadPosRankSum=-3.006e+00;SOR=2.822	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,105,1361	19	0	1	1
chr16	29383427	29383427	T	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.A1505G:p.H502R,	.	.	674	809	29	8	2	47	0.0270595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.89	T	.	.	.	.	.	.	1.000	N	0	N	2.39	T	-0.953	T	0.015	T	0.018	-1.379	0.025	.	.	.	.	0.101	.	.	.	0.0826	0.5	0	.	0	0.0484	0	0.1630	7.68e-05	2	26028	rs77403205	0.0033	0.0031	0.0028	0.0037	0.0300	0.0031	0.0030	0.0265	0.0251	0.0033	0.0087	0.0022	0.0300	0.0016	0.0018	0.0014	0.0027	0.0086	0.0009	0.0005	0.0013	0.0006	0.0012	0.0003	0.0001	0.0002	8.718e-05	0	0	0	0.0111	0	0	0	0.0012	0	0	0.862	0.02658	T	0.416	0.14284	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.695	0.01866	N	2.39	0.15724	T	0.98	0.01447	N	0.022	0.00372	-0.9531	0.40433	T	0.015	0.06282	T	4	0.0016781092	0.00021	T	.	.	.	0.101	0.28911	0.155	0.05858	.	.	0.018486071411131396	0.01802	.	.	.	.	.	0.002524	0.01914	T	-0.454797	0.01058	T	-0.891061	0.00568	T	0.0150007129087241	0.00322	T	0.428457	0.11587	T	0.051112827	0.09338	0.10343577	0.24818	0.051112827	0.09337	0.10343577	0.24817	0.315	0.00255	T	.	.	0.091	0.13174	B	.	.	-0.130205	0.03466	0.643	0.31851799518974977	0.01816	0.00096	0.00628	N	AEFDI	0.031964	0.03522	N	-0.523483715401697	0.21323	1.130716	-0.568996682795784	0.20303	1.093282	1.09648973830877E-6	0.01202	0.553676	0.25195	0	0.601575	0.49859	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	.	.	.	-0.909000	0.04167	-2.619000	0.03542	-2.558000	0.00246	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	774	0.48577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1029.26	13	chr16	29383427	.	T	C	1029.26	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-7.310e-01;DP=1336;ExcessHet=0.0082;FS=24.193;InbreedingCoeff=0.3747;MLEAC=4;MLEAF=0.100;MQ=48.93;MQRankSum=0.357;QD=16.87;ReadPosRankSum=-2.268e+00;SOR=3.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:27,0:27:43:.:.:0,43,839	17	1	2	1
chr16	29383437	29383437	G	T	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.C1495A:p.P499T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	P	1.32	L	2.27	T	-0.988	T	0.053	T	0.075	0.989	9.037	.	.	.	.	0.086	0.013040640946	.	.	.	.	.	.	.	.	.	.	0.0003842	10	26028	rs796341971	0.0035	0.0005	0.0036	0.0034	0.0349	0.0032	0.0031	0.0244	0.0209	0.0250	0.0068	0.0021	0.0349	0.0016	0	0.0017	0.0060	0.0068	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.044	0.41096	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	1.965	0.53209	M	2.27	0.17431	T	-2.26	0.50502	N	0.085	0.06190	-0.9877	0.33175	T	0.053	0.22578	T	3	0.004444927	0.00091	T	0.013041	0.32127	T	0.086	0.25016	0.261	0.20473	0.128392430309	0.12331	0.04811201458583903	0.04754	.	.	.	.	.	0.062	0.31906	T	-0.670881	0.00054	T	-0.719531	0.04818	T	0.0103741038023816	0.00142	T	0.770923	0.40135	T	0.08623104	0.20036	0.13485615	0.32304	0.08623104	0.20036	0.13485615	0.32303	-4.477	0.30586	T	.	.	0.222	0.45261	B	.	.	1.461296	0.18836	13.95	0.9914587383974085	0.53682	0.00144	0.00877	N	AEFDI	0.034136	0.04175	N	-0.186021118236797	0.33715	1.916004	-0.3111444491505	0.27738	1.541	1.09648973830877E-6	0.01202	0.553676	0.25195	0	0.601575	0.49859	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	.	.	.	0.283000	0.18605	-0.295000	0.10161	0.285000	0.18709	0.004000	0.16614	0.000000	0.08366	0.005000	0.06747	.	.	.	774	0.48577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	276.9	302	chr16	29383437	.	G	T	276.9	.	AC=2;AF=1.00;AN=2;BaseQRankSum=1.83;DP=1589;ExcessHet=0.0000;FS=7.404;InbreedingCoeff=0.3332;MLEAC=6;MLEAF=1.00;MQ=49.52;MQRankSum=-6.600e-01;QD=25.17;ReadPosRankSum=0.431;SOR=4.615	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:37,0:37:0:.:.:0,0,0	0	1	0	20
chr16	29383627	29383627	A	-	exonic	NPIPB11	.	frameshift deletion	NPIPB11:NM_001310137:exon8:c.1305delT:p.E436Sfs*161,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1183606516	0.0031	0.0018	0.0030	0.0031	0.0067	0.0029	0.0029	0.0057	0.0054	0.0038	0.0067	0.0028	0.0046	0.0017	0.0022	0.0025	0.0033	0.0050	0	5.194e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	241.03	54	chr16	29383626	.	CA	C	241.03	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.038e+00;DP=1005;ExcessHet=0.0000;FS=2.301;InbreedingCoeff=-0.0276;MLEAC=1;MLEAF=0.024;MQ=31.05;MQRankSum=0.651;QD=7.53;ReadPosRankSum=-1.256e+00;SOR=0.652	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,108,1340	20	0	1	0
chr16	29383627	29383627	A	0	exonic	NPIPB11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	2296.18	77	chr16	29383627	.	A	G,*	2296.18	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=2.03;DP=1184;ExcessHet=0.0208;FS=58.039;InbreedingCoeff=0.4285;MLEAC=11,1;MLEAF=0.275,0.025;MQ=35.46;MQRankSum=-8.430e-01;QD=5.36;ReadPosRankSum=-3.321e+00;SOR=3.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0,0:39:99:.:.:0,108,1340,108,1340,1340	11	3	5	1
chr16	29446947	29446947	T	G	exonic	BOLA2-SMG1P6	.	nonsynonymous SNV	BOLA2-SMG1P6:NM_001320624:exon2:c.A341C:p.E114A	.	.	842	677	2	1	0	4	0.00294551	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1331405376	0.0057	0.0039	0.0027	0.0083	0.0505	0.0055	0.0054	0.0488	0.0481	0	0.0002	0	3.606e-05	0	0.0038	2.823e-05	0.0028	0.0505	0.0011	0.0017	0.0007	0.0017	0.0341	0.0009	0.0009	0.0281	0.0259	0.0002	0	0.0001	0	0.0004	0	0	2.564e-05	0.0011	0.0341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	54.66	9	chr16	29446947	.	T	G	54.66	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.683e+00;DP=210;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0432;MLEAC=1;MLEAF=0.025;MQ=23.65;MQRankSum=-5.880e-01;QD=4.20;ReadPosRankSum=1.87;SOR=0.527	GT:AD:DP:GQ:PL	0/0:4,0:4:6:0,6,90	19	0	1	1
chr16	29485007	29485007	A	G	exonic	NPIPB12	.	nonsynonymous SNV	NPIPB12:NM_001355401:exon8:c.T1469C:p.L490P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	.	.	.	.	.	.	1.000	N	.	.	2.02	T	-1.018	T	0.046	T	0.418	-1.092	0.151	.	.	.	.	0.122	0.0257258266066	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200181489	0.0129	0.0041	0.0122	0.0136	0.0205	0.0124	0.0122	0.0146	0.0143	0.0018	0.0062	0.0144	0.0007	0.0169	0.0205	0.0152	0.0135	0.0123	0.0047	0.0059	0.0088	0	0.0086	0	0	.	.	0	0	0	0	0	0	.	0.0086	0	.	0.142	0.25457	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999995	0.08975	N	.	.	.	2.02	0.21119	T	1.23	0.01037	N	.	.	-1.0179	0.24398	T	0.046	0.19640	T	3	0.18567869	0.33999	T	0.025726	0.48684	D	0.122	0.33800	0.597	0.72739	0.520373764981	0.51680	.	.	.	.	.	.	.	.	.	.	-0.211249	0.19203	T	-0.541221	0.18177	T	0.0386150503690589	0.03441	T	0.512749	0.16428	T	.	.	.	.	.	.	.	.	2.421	0.00035	T	.	.	0.064	0.01600	B	.	.	0.386430	0.07583	4.238	0.2718372158264844	0.01337	0.00110	0.00700	N	AEFI	0.066009	0.12904	N	-0.19305386976	0.33423	1.896032	-0.322771506560789	0.27365	1.51793	1.09648973830877E-6	0.01202	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	.	.	.	-1.504000	0.02379	-12.010000	0.00557	-1.386000	0.01155	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	749	0.51929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	140.71	31	chr16	29485007	.	A	G	140.71	.	AC=1;AF=0.050;AN=20;BaseQRankSum=-1.981e+00;DP=31;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1922;MLEAC=2;MLEAF=0.100;MQ=39.21;MQRankSum=-7.120e-01;QD=20.10;ReadPosRankSum=-1.068e+00;SOR=1.609	GT:AD:DP:GQ:PL	0/0:4,0:4:9:0,9,135	9	0	1	11
chr16	29485566	29485566	G	T	exonic	NPIPB12	.	nonsynonymous SNV	NPIPB12:NM_001355401:exon8:c.C910A:p.P304T,	.	.	554	965	3	0	0	3	0.00155199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	.	.	.	.	.	.	1.000	N	.	.	2.13	T	-1.012	T	0.049	T	0.122	0.988	9.032	.	0.064	0.064	.	0.039	0.000998784482575	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1168288090	0.0002	0.0005	0.0001	0.0002	0.0035	0.0001	0.0001	0.0030	0.0028	0	0	0.0001	0.0035	0.0002	0	6.79e-06	5.349e-05	0.0008	0.0005	0.0006	0.0005	0.0005	0.0093	0.0004	0.0004	0.0070	0.0062	2.952e-05	0	0	0.0006	0.0093	0.0001	0	3.349e-05	0.0005	0.0076	0.01	0.56456	D	0.04	0.50809	D	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	2.13	0.19588	T	-3.57	0.68999	D	0.191	0.20925	-1.0119	0.26322	T	0.049	0.20711	T	4	0.010250539	0.00229	T	9.99E-4	0.01073	T	0.039	0.10176	0.529	0.63560	0.101711395817	0.09552	.	.	.	.	.	.	.	.	.	.	-0.29199	0.09438	T	-0.6572	0.08457	T	0.0828104060974807	0.10343	T	0.654634	0.65300	T	.	.	.	.	.	.	.	.	-9.75	0.72402	D	.	.	0.211	0.43962	B	.;.	.;.	1.678633	0.21398	15.18	0.98327842493652162	0.40309	0.00201	0.01154	N	AEFI	0.036572	0.04896	N	-0.792272824534438	0.13510	0.6660753	-1.04853092477546	0.08738	0.4310775	1.09537333666636E-6	0.01202	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	.	.	.	0.133000	0.15736	-1.906000	0.04518	0.194000	0.17875	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	749	0.51929	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	634.98	39	chr16	29485566	.	G	T	634.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.584e+00;DP=2962;ExcessHet=0.0000;FS=9.030;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=38.57;MQRankSum=-1.060e+00;QD=1.72;ReadPosRankSum=-6.980e-01;SOR=0.346	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	20	0	1	0
chr16	29485668	29485668	C	0	exonic	NPIPB12	.	.	.	.	.	580	711	64	0	167	231	0.0430686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	807.49	39	chr16	29485668	.	C	*,G	807.49	.	AC=12,2;AF=0.286,0.048;AN=42;BaseQRankSum=-3.277e+00;DP=2501;ExcessHet=14.4320;FS=3.279;InbreedingCoeff=-0.5000;MLEAC=12,2;MLEAF=0.286,0.048;MQ=29.15;MQRankSum=-1.177e+00;QD=0.44;ReadPosRankSum=-2.008e+00;SOR=0.370	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0,0:44:99:.:.:0,99,1485,99,1485,1485	7	0	12	0
chr16	29806843	29806843	C	T	exonic	MAZ	.	nonsynonymous SNV	MAZ:NM_001042539:exon1:c.C142T:p.L48F	.	.	413	1106	3	0	0	3	0.0013544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.997	D	0.972	D	0.021	U	1.000	D	0	N	2.97	T	-0.979	T	0.040	T	0.254	2.688	14.95	2.44	1.105	0.215	8.628	0.069	0.182777347137	.	.	8.861e-06	0	0	0	0	1.627e-05	0	0	6.5e-06	1	154602	rs746668933	1.453e-05	2.121e-05	1.977e-05	9.227e-06	1.649e-05	9.29e-06	7.49e-06	1.004e-05	8.21e-06	0	0	0	0	0	0	1.649e-05	3.884e-05	0	6.754e-06	1.316e-05	0	1.386e-05	2.436e-05	0	0	.	.	2.436e-05	0	0	0	0	0	0	0	0	0	0.01	0.91255	D	0.073	0.92824	T	0.994	0.66517	D	0.931	0.66596	D	0.020792	0.01539	U	15.684000	0.543174	0.34348	D	0	0.06538	N	2.97	0.10482	T	0.79	0.68178	N	0.26	0.39861	-0.9789	0.35254	T	0.040	0.17319	T	10	0.11615363	0.21903	T	0.182777	0.85642	D	0.069	0.20116	0.189	0.09907	0.182106788282	0.17826	0.148482199271661	0.14770	0.0132338804341	0.01271	0.868602931499	0.92368	D	0.11078	0.42575	T	-0.234965	0.15996	T	-0.52345	0.19946	T	0.427674293518066	0.29974	T	0.765423	0.39305	T	0.07385236	0.16532	0.08014302	0.18103	0.07385236	0.16532	0.08014302	0.18103	-4.523	0.32806	T	.	.	0.685	0.86689	P	.;.;.;.;.;.	.;.;.;.;.;.	3.135304	0.42385	21.5	0.99232916901686941	0.56278	0.23428	0.22073	N	ALL	0.144482	0.26746	N	-0.159052227721518	0.34852	1.99454	-0.239780544342796	0.30125	1.69352	0.999999999999092	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.504199	0.09095	0	0.621717	0.48901	0	.	.	2.44	2.44	0.28875	0.150000	0.16082	6.512000	0.55810	0.152000	0.17698	0.081000	0.22364	1.000000	0.68203	0.859000	0.40722	0.0:1.0:0.0:0.0	8.628	0.33063	280	0.88949	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	370.98	33	chr16	29806843	.	C	T	370.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.709;DP=749;ExcessHet=0.0000;FS=1.157;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.89;ReadPosRankSum=0.197;SOR=0.864	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1006	20	0	1	0
chr16	29807080	29807088	GCTGCGGCC	-	exonic	MAZ	.	nonframeshift deletion	MAZ:NM_001042539:exon2:c.295_303del:p.A106_A108del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	.	.	0	.	0	3.84e-05	1	26028	rs758356460	0.0001	0.0001	9.866e-05	0.0001	0.0014	8.6e-05	7.918e-05	0.0006	0.0005	6.162e-05	0	0	0.0014	0	0	9.459e-05	0.0001	0.0002	0.0003	0.0003	0.0003	0.0004	0.0018	0.0003	0.0002	0.0013	0.0011	0.0002	0	0.0018	0	0.0008	0	0	0.0001	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3222.07	11	chr16	29807079	.	TGCTGCGGCC	T	3222.07	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.970e-01;DP=372;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0326;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.89;ReadPosRankSum=1.04;SOR=0.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:17,0:17:51:.:.:0,51,520	20	0	1	0
chr16	29807346	29807346	G	C	exonic	MAZ	.	nonsynonymous SNV	MAZ:NM_001042539:exon2:c.G561C:p.K187N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.867	P	0.352	B	0.436	N	1.000	D	0	N	4.68	T	-0.469	T	0.005	T	0.068	2.120	13.05	3.15	1.513	.	12.173	0.133	0.134999103919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.167	0.39645	T	0.397	0.34783	B	0.093	0.30104	B	0.435629	0.12693	N	0.675160	1	0.81001	D	0	0.06538	N	4.68	0.01715	T	-1.11	0.29114	N	0.507	0.53884	-0.4694	0.69745	T	0.005	0.01578	T	10	0.26120687	0.43577	T	0.134999	0.81745	D	0.133	0.36157	0.448	0.50793	0.554512861526	0.55110	0.16731677425195535	0.16651	1.48687609332	0.86800	0.851965308189	0.89911	D	0.153904	0.49495	T	-0.31049	0.07704	T	-0.683774	0.06755	T	0.290501988492608	0.24610	T	0.735426	0.37153	T	0.16363412	0.36518	0.08177421	0.18610	0.16363412	0.36518	0.08177421	0.18610	-10.515	0.82309	D	.	.	0.974	0.89971	P	.;.;.	.;.;.	3.514540	0.49230	22.7	0.98935372242225628	0.48826	0.19920	0.20846	N	ALL	0.161888	0.28800	N	-0.400134304504689	0.25465	1.382524	-0.376272512799973	0.25705	1.41532	0.999999896863054	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	3.15	3.15	0.35301	0.621000	0.24112	5.337000	0.48335	-0.326000	0.05813	0.345000	0.25717	1.000000	0.68203	0.837000	0.39485	0.0:0.0:1.0:0.0	12.173	0.53476	278	0.89047	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	720.98	35	chr16	29807346	.	G	C	720.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.513e+00;DP=893;ExcessHet=0.0000;FS=3.602;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.11;ReadPosRankSum=1.05;SOR=0.520	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1450	20	0	1	0
chr16	29810106	29810114	GCAGCGGCA	-	exonic	MAZ	.	nonframeshift deletion	MAZ:NM_001276276:exon3:c.394_402del:p.A141_A143del	.	.	329	1048	62	5	78	150	0.0332103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0125	.	0.0097	0.0014	0.0019	0.0059	0.0005	0.0013	0.015	0.0587	3.23e-05	5	154602	rs760562143	0.0044	0.0044	0.0028	0.0060	0.0564	0.0043	0.0043	0.0550	0.0545	0.0009	0.0018	0.0003	0.0031	0.0009	0.0146	0.0009	0.0055	0.0564	0.0034	0.0034	0.0026	0.0042	0.0571	0.0032	0.0031	0.0514	0.0492	0.0010	0	0.0032	0	0.0063	0.0009	0.0252	0.0014	0.0063	0.0571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2061.94	35	chr16	29810105	.	GGCAGCGGCA	G	2061.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.020e-01;DP=841;ExcessHet=0.0000;FS=0.674;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.04;ReadPosRankSum=-1.400e-02;SOR=0.608	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1167	20	0	1	0
chr16	29810109	29810117	GCGGCAGCG	-	exonic	MAZ	.	nonframeshift deletion	MAZ:NM_001276276:exon3:c.397_405del:p.A141_A143del	.	.	326	1004	17	0	175	192	0.00839506	.	.	2807783	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0259	.	0.0042	0.0042	0.0036	0.0083	0.0010	0.0043	0.0013	0.0038	6.47e-05	10	154602	rs780065474	0.0028	0.0028	0.0028	0.0029	0.0230	0.0028	0.0027	0.0196	0.0183	0.0044	0.0043	0.0060	0.0041	0.0012	0.0230	0.0025	0.0043	0.0038	0.0032	0.0032	0.0034	0.0030	0.0086	0.0029	0.0029	0.0066	0.0059	0.0032	0	0.0061	0.0045	0.0086	0.0009	0.0188	0.0024	0.0030	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1597.03	35	chr16	29810108	.	AGCGGCAGCG	A,*	1597.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.417;DP=899;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=8.03;ReadPosRankSum=-2.509e+00;SOR=0.713	GT:AD:DP:GQ:PL	0/0:33,0,0:33:99:0,99,1167,99,1167,1167	19	0	1	0
chr16	29810108	29810117	AGCGGCAGCG	0	exonic	MAZ	.	.	.	.	.	326	1004	17	0	175	192	0.00839506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1597.03	35	chr16	29810108	.	AGCGGCAGCG	A,*	1597.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.417;DP=899;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=8.03;ReadPosRankSum=-2.509e+00;SOR=0.713	GT:AD:DP:GQ:PL	0/0:33,0,0:33:99:0,99,1167,99,1167,1167	19	0	1	0
chr16	29810161	29810161	C	A	exonic	MAZ	.	nonsynonymous SNV	MAZ:NM_001276276:exon3:c.C449A:p.A150D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.995	D	0.763	P	.	.	1.000	D	0.345	N	3.03	T	-1.062	T	0.028	T	0.637	2.624	14.73	2.95	1.221	1.678	9.628	0.141	0.0316593166221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.27	0.70582	T	0.995	0.67487	D	0.763	0.56556	P	.	.	.	.	1	0.81001	D	1.63	0.41750	L	3.03	0.09542	T	-1.56	0.43717	N	0.662	0.73465	-1.0616	0.11361	T	0.028	0.12014	T	9	0.19529599	0.35375	T	0.031659	0.53686	D	0.141	0.37795	0.291	0.25241	0.341405816201	0.33746	.	.	.	.	.	.	.	0.274299	0.64679	T	-0.040413	0.45886	T	-0.295827	0.45164	T	0.330549358541598	0.26247	T	0.754025	0.37642	T	0.49073717	0.66547	0.4755514	0.69609	0.49073717	0.66548	0.4755514	0.69610	-6.043	0.47639	T	.	.	0.422	0.60783	A	.;.;.;.;.;.	.;.;.;.;.;.	4.127541	0.61742	24.4	0.98219616797534626	0.39290	0.73557	0.35980	D	AEFDGBHCI	0.329804	0.43004	N	0.0984329241551781	0.46389	2.880043	0.0779884351701568	0.43443	2.645988	0.999999935719488	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	3.91	2.95	0.33285	1.364000	0.33775	3.976000	0.40865	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.999000	0.91618	0.0:0.787:0.213:0.0	9.628	0.38925	261	0.89765	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1051.98	35	chr16	29810161	.	C	A	1051.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.127;DP=812;ExcessHet=0.0000;FS=1.764;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=1.05;SOR=0.666	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1167	20	0	1	0
chr16	29813466	29813466	C	G	exonic	PRRT2	.	nonsynonymous SNV	PRRT2:NM_001256442:exon2:c.C412G:p.P138A	Convulsions, familial infantile, with paroxysmal choreoathetosis, Autosomal dominant;Episodic kinesigenic dyskinesia 1, Autosomal dominant;Seizures, benign familial infantile, 2, Autosomal dominant	.	0	1507	15	0	0	15	0.00495213	.	.	135484	not_provided|Episodic_kinesigenic_dyskinesia_1|not_specified|Episodic_kinesigenic_dyskinesia|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200,Orphanet:98809|MedGen:CN169374|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200,Orphanet:98809|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.13	T	0.019	B	0.013	B	0.788	N	0.995	N	0.55	N	0.43	T	-1.098	T	0.006	T	0.215	0.995	9.064	-0.297	0.197	-0.071	3.995	0.032	.	0.0014	0.0295527	0.0174	0.0028	0.0668	0.0979	0.0026	0.0007	0.0135	0.0228	0.0159054	2459	154602	rs79182085	0.0078	0.0078	0.0075	0.0080	0.1455	0.0077	0.0076	0.1424	0.1411	0.0010	0.0571	0	0.1455	0.0024	0.0028	0.0004	0.0080	0.0232	0.0079	0.0080	0.0067	0.0092	0.1012	0.0076	0.0074	0.0940	0.0912	0.0019	0	0.0265	0	0.1012	0.0024	0	0.0006	0.0080	0.0240	0.022	0.49117	D	0.029	0.54541	D	0.001	0.17989	B	0.001	0.16460	B	0.787771	0.09421	N	0.893166	0.994714	0.23459	N	1.445	0.36358	L	-0.63	0.74265	T	-0.33	0.19933	N	0.194	0.25745	-1.0983	0.04303	T	0.006	0.02055	T	10	0.001377523	0.00015	T	.	.	.	0.032	0.07718	.	.	.	.	0.039453504209102916	0.03891	0.270967634394	0.29621	0.319753050804	0.13383	T	0.009471	0.08620	T	-0.535628	0.00356	T	-0.398349	0.33576	T	0.000297025384191556	0.00002	T	0.721828	0.33531	T	0.07019904	0.15442	0.070397034	0.14952	0.04540043	0.07424	0.072905704	0.15783	-5.665	0.43479	T	0.1099383838119479	0.09235	0.064	0.04002	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.423944	0.18411	13.72	0.84130369696714713	0.15114	0.10893	0.16265	N	AEFBI	0.102383	0.20540	N	-0.791199834361241	0.13538	0.667666	-0.751181007533119	0.15693	0.8266299	0.999583868652927	0.40607	0.766844	0.99359	0	0.626922	0.53725	0	0.851219	0.99655	0	0.604944	0.38103	0	.	.	4.29	-0.297	0.12185	0.229000	0.17614	0.016000	0.13516	0.580000	0.29708	0.000000	0.06391	0.598000	0.25705	0.968000	0.53726	0.0:0.5136:0.1766:0.3098	3.995	0.09046	260	0.89800	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	850.98	34	chr16	29813466	.	C	G	850.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.264e+00;DP=767;ExcessHet=0.0000;FS=3.288;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=-2.003e+00;SOR=0.346	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1150	20	0	1	0
chr16	29841997	29841997	C	T	exonic	MVP	.	nonsynonymous SNV	MVP:NM_001293204:exon9:c.C1519T:p.R507C	.	.	427	1086	8	1	0	10	0.00458295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.912	D	0.000	D	1.000	D	2.965	M	1.37	T	-0.667	T	0.221	T	0.375	4.120	21.2	3.57	0.661	1.181	9.434	0.198	0.042898124295	0.0013	0.000199681	0.0016	0.0002	0.0012	0	0.0002	0.0024	0.0023	0.0007	0.0016041	248	154602	rs146411255	0.0019	0.0019	0.0018	0.0019	0.0042	0.0018	0.0018	0.0029	0.0024	0.0001	0.0013	0.0022	0	0.0002	0.0042	0.0022	0.0016	0.0008	0.0013	0.0013	0.0012	0.0013	0.0024	0.0011	0.0011	0.0018	0.0017	0.0002	0	0.0024	0.0012	0	0	0.0034	0.0020	0.0014	0.0002	0.008	0.58626	D	0.002	0.79402	D	1.0	0.90584	D	0.912	0.64797	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.305	0.65957	M	1.37	0.34253	T	-5.38	0.84954	D	0.282	0.31925	-0.6672	0.61955	T	0.221	0.58485	T	10	0.038394928	0.02255	T	0.042898	0.60702	D	0.198	0.48105	.	.	0.639520540457	0.63655	0.6823336604321246	0.68172	1.32234499502	0.83471	0.75591468811	0.75322	T	0.813182	0.95354	D	-0.403034	0.02211	T	-0.349372	0.39277	T	0.0663511371611991	0.08129	T	0.861114	0.55479	D	0.3963957	0.60482	0.30836472	0.56855	0.3963957	0.60483	0.30836472	0.56854	-9.175	0.68817	D	.	.	0.169	0.37140	B	.;.	.;.	4.729526	0.76160	26.5	0.99918697824175695	0.98586	0.77637	0.38196	D	AEFBI	0.391281	0.46978	N	0.528084256536723	0.68757	5.261333	0.444657366317427	0.64374	4.691152	0.595662617737563	0.21683	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.6	3.57	0.40014	1.209000	0.31963	2.607000	0.33555	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.7761:0.144:0.0799	9.434	0.37792	226	0.91233	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	377.98	34	chr16	29841997	.	C	T	377.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.863;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.79;ReadPosRankSum=0.063;SOR=0.653	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1144	20	0	1	0
chr16	29987132	29987132	G	A	exonic	TAOK2	.	nonsynonymous SNV	TAOK2:NM_016151:exon16:c.G2860A:p.G954S	.	.	.	.	.	.	.	.	.	.	.	1402791	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.944	P	0.229	B	0.037	N	1.000	D	0.345	N	-0.48	T	-0.680	T	0.160	T	0.227	3.317	17.16	5.31	2.499	1.283	14.477	0.079	0.0985251510916	7.7e-05	.	1.767e-05	0	0	0	0	3.151e-05	0	0	1.94e-05	3	154602	rs374422460	4.294e-05	4.515e-05	3.306e-05	5.293e-05	4.979e-05	3.419e-05	3.103e-05	3.916e-05	3.513e-05	3.067e-05	4.91e-05	0	2.522e-05	0	0	4.979e-05	5.041e-05	0	2.629e-05	2.627e-05	2.57e-05	2.69e-05	4.411e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.413e-05	0	0	0	0	0	0	4.411e-05	0	0	0.0	0.91255	D	0.49	0.29153	T	0.596	0.53183	P	0.051	0.38155	B	0.036903	0.24465	N	0.429012	0.706939	0.81001	D	0.345	0.11182	N	-0.48	0.70950	T	-0.33	0.13805	N	0.19	0.27197	-0.6803	0.61359	T	0.160	0.49430	T	9	0.1413629	0.26861	T	0.098525	0.76956	D	0.079	0.23065	.	.	0.695084422879	0.69246	0.21162039548593203	0.21078	0.386643288285	0.39955	0.721727609634	0.70298	T	0.110948	0.42604	T	-0.138515	0.30127	T	-0.3338	0.41046	T	0.174073817483737	0.18853	T	0.839616	0.51418	T	0.1366028	0.31661	0.23199709	0.48348	0.1366028	0.31661	0.23199709	0.48347	-4.57	0.34086	T	.	.	0.165	0.36966	B	.;.;.	.;.;.	3.210950	0.43707	21.8	0.99782255317829582	0.86867	0.66882	0.33234	D	AEFDBI	0.170567	0.29747	N	-0.0347155797275474	0.40288	2.389993	0.0897052239172711	0.44030	2.692665	0.99967251724517	0.41644	0.706548	0.73137	0	0.653731	0.59785	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	1.086000	0.30464	8.735000	0.78193	0.676000	0.76740	0.808000	0.29825	1.000000	0.68203	0.822000	0.38733	0.0:0.0:1.0:0.0	14.477	0.67136	77	0.96778	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1259.98	39	chr16	29987132	.	G	A	1259.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=971;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.86;ReadPosRankSum=-1.670e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	20	0	1	0
chr16	29987531	29987531	C	T	exonic	TAOK2	.	nonsynonymous SNV	TAOK2:NM_016151:exon16:c.C3259T:p.R1087W	.	.	.	.	.	.	.	.	.	.	.	2942685	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.078	B	0.023	B	0.077	N	1.000	D	0.55	N	-0.86	T	-0.899	T	0.175	T	0.593	1.799	11.98	1.65	0.208	1.055	6.616	0.300	0.113559613538	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1031649698	1.028e-05	1.163e-05	1.364e-05	6.893e-06	2.996e-05	6.18e-06	4.9e-06	5.32e-06	3.89e-06	2.996e-05	0	0	0	1.876e-05	0	9.909e-06	1.661e-05	1.164e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.471e-05	0	0	0.065	0.38185	T	0.0	0.92824	D	0.002	0.24389	B	0.001	0.19966	B	0.077017	0.21129	N	0.342835	0.522131	0.81001	D	0.55	0.14455	N	-0.86	0.75001	T	-0.6	0.25332	N	0.279	0.39457	-0.8987	0.48125	T	0.175	0.51959	T	9	0.14988047	0.28358	T	0.11356	0.79210	D	0.300	0.62068	0.42	0.46200	0.765723445004	0.76358	0.6458953793029009	0.64524	1.21482918538	0.80924	0.560065627098	0.47277	T	0.135703	0.46767	T	0.0213358	0.54561	T	-0.207129	0.53969	T	0.482036978006363	0.31972	T	0.836816	0.50885	T	0.034124974	0.03770	0.0365178	0.03113	0.034124974	0.03770	0.0365178	0.03113	-4.584	0.31970	T	.	.	0.233	0.56728	B	.;.;.	.;.;.	3.836660	0.55490	23.6	0.98904650009903505	0.48254	0.90240	0.51260	D	AEFBI	0.403732	0.47730	N	-0.471225260096327	0.23027	1.233688	-0.33554863138246	0.26960	1.492717	0.0197150799101872	0.13188	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.8	1.65	0.23015	1.053000	0.30052	0.851000	0.22138	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.947000	0.49155	0.3142:0.6002:0.0:0.0856	6.616	0.21973	77	0.96778	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1480.98	39	chr16	29987531	.	C	T	1480.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.720e-01;DP=958;ExcessHet=0.0000;FS=0.730;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=-2.821e+00;SOR=0.602	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	20	0	1	0
chr16	30006930	30006938	CCTGCTCCG	-	exonic	DOC2A	.	nonframeshift deletion	DOC2A:NM_001282068:exon8:c.725_733del:p.A242_Q244del	.	.	356	1163	3	0	0	3	0.00128811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	.	0.0009	0.0004	0	0	0.0003	0.0010	0.0012	0.0019	1.94e-05	3	154602	rs749863198	0.0009	0.0009	0.0009	0.0010	0.0019	0.0009	0.0009	0.0016	0.0016	0.0004	0.0001	0.0001	2.521e-05	0.0004	0.0009	0.0010	0.0005	0.0019	0.0006	0.0006	0.0006	0.0007	0.0019	0.0005	0.0005	0.0010	0.0007	0.0003	0	0.0003	0.0003	0.0002	0.0006	0.0034	0.0009	0.0005	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1384.94	58	chr16	30006929	.	CCCTGCTCCG	C	1384.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.38;DP=1071;ExcessHet=0.0000;FS=1.974;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.72;ReadPosRankSum=2.10;SOR=0.972	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr16	30108383	30108383	C	G	exonic	GDPD3	.	nonsynonymous SNV	GDPD3:NM_024307:exon8:c.G757C:p.V253L,	.	.	422	1098	2	0	0	2	0.000909918	.	.	2430562	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.66	T	0.0	B	0.001	B	0.461	N	1.000	N	-0.95	N	1.53	T	-1.014	T	0.014	T	0.287	0.564	7.049	-10.6	-1.091	-0.514	1.758	0.077	0.00794021486212	0.0003	.	0.0001	0	0	0	0	0.0002	0	0.0001	0.0001035	16	154602	rs146701553	0.0001	0.0001	9.12e-05	0.0002	0.0007	0.0001	0.0001	0.0004	0.0003	5.974e-05	8.944e-05	0	0	1.872e-05	0.0007	0.0001	6.623e-05	0.0005	0.0002	0.0002	0.0002	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	7.226e-05	0	0.0002	0	0	0	0.0034	0.0003	0.0005	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.461422	0.12387	N	0.744294	1	0.08975	N	0.06	0.08197	N	1.53	0.30401	T	1.17	0.01121	N	0.118	0.10769	-1.0138	0.25720	T	0.014	0.05369	T	10	0.021596164	0.00520	T	0.00794	0.21059	T	0.077	0.22490	.	.	0.0986583533028	0.09354	0.6590387575574405	0.65840	0.204291782163	0.22853	0.4091116786	0.26333	T	0.005143	0.04581	T	-0.480518	0.00734	T	-0.627684	0.10591	T	0.0270888454768486	0.01557	T	0.60234	0.22547	T	0.042083107	0.06318	0.028351868	0.01064	0.042083107	0.06317	0.028351868	0.01063	-3.159	0.11986	T	.	.	0.105	0.19194	B	.	.	-0.483162	0.01921	0.162	0.77092938586996995	0.11733	0.03778	0.09097	N	AEFBCI	0.052866	0.09477	N	-1.77986168032505	0.00596	0.02569335	-1.82356104565144	0.00687	0.03056067	0.999999908525572	0.74766	0.660377	0.49826	0	0.670034	0.63936	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	5.29	-10.6	0.00212	-0.446000	0.06910	-0.271000	0.10347	-0.195000	0.09104	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.1916:0.1519:0.3776:0.279	1.758	0.02806	131	0.94738	Glycerophosphodiester phosphodiesterase domain|Glycerophosphodiester phosphodiesterase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	725.98	35	chr16	30108383	.	C	G	725.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.190e-01;DP=841;ExcessHet=0.0000;FS=1.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.95;ReadPosRankSum=1.15;SOR=0.914	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1433	20	0	1	0
chr16	30112751	30112751	C	G	exonic	GDPD3	.	nonsynonymous SNV	GDPD3:NM_024307:exon3:c.G225C:p.Q75H,	.	.	419	1094	8	1	0	10	0.00454959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	T	0.002	B	0.005	B	0.000	N	0.794	N	0.59	N	2.64	T	-0.954	T	0.017	T	0.22	-0.858	0.530	0.963	0.237	-0.344	8.196	0.063	.	7.7e-05	0.0161741	0.0079	0	0.0008	0	0	3.053e-05	0.0112	0.0558	0.0068757	1063	154602	rs375485050	0.0034	0.0034	0.0019	0.0050	0.0545	0.0033	0.0033	0.0532	0.0527	0.0002	0.0001	3.827e-05	0.0002	0	0.0021	3.957e-05	0.0035	0.0545	0.0019	0.0020	0.0010	0.0029	0.0600	0.0018	0.0017	0.0543	0.0521	0.0001	0	0	0	0.0002	0	0	0	0	0.0600	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.005	0.11217	B	0.000493	0.43931	N	0.239919	0.793514	0.29198	N	0.11	0.08516	N	2.64	0.12780	T	3.8	0.00066	N	0.221	0.24758	-0.9536	0.40345	T	0.017	0.06855	T	10	0.004280716	0.00086	T	.	.	.	0.063	0.18251	0.625	0.76028	0.223847106136	0.22009	0.8072162313784973	0.80676	0.19774465149	0.22142	0.309840738773	0.11883	T	0.003442	0.02849	T	-0.632709	0.00092	T	-0.642143	0.09514	T	0.000650241616935696	0.00006	T	0.878012	0.59262	D	0.079382144	0.18133	0.05962705	0.11224	0.079382144	0.18132	0.05962705	0.11223	-4.357	0.28968	T	.	.	0.166	0.36653	B	.	.	0.355082	0.07282	3.886	0.62003030266386105	0.06852	0.22976	0.21925	N	AEFDGBHCI	0.120741	0.23506	N	-0.756391999931643	0.14460	0.7204837	-0.625564516550365	0.18837	1.00806	0.999999999954965	0.74766	0.653496	0.48692	0	0.858003	0.99906	0	0.535252	0.11790	0	0.683535	0.66460	0	.	.	5.57	0.963	0.18769	0.009000	0.13117	-0.510000	0.08751	-0.217000	0.08171	0.978000	0.35038	0.031000	0.21272	0.524000	0.29567	0.2936:0.4213:0.2851:0.0	8.196	0.30556	140	0.94439	Glycerophosphodiester phosphodiesterase domain|Glycerophosphodiester phosphodiesterase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1391.98	42	chr16	30112751	.	C	G	1391.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.510e-01;DP=857;ExcessHet=0.0000;FS=0.707;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.80;ReadPosRankSum=0.032;SOR=0.593	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1011	20	0	1	0
chr16	30194996	30194996	G	A	exonic	SLX1A;SLX1B	.	nonsynonymous SNV	SLX1A:NM_001014999:exon3:c.G351A:p.M117I	.	.	587	934	1	0	0	1	0.000535045	.	.	3333257	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	.	.	.	.	0.000	U	1.000	D	.	.	.	.	-0.291	T	0.352	T	0.663	3.859	19.61	3.82	1.993	6.753	14.672	0.408	0.696325551989	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1409560826	0.0003	0.0006	0.0002	0.0004	0.0053	0.0003	0.0003	0.0048	0.0046	3.699e-05	0	0	0	0	0	1.116e-06	0.0003	0.0053	0.0002	0.0003	6.603e-05	0.0004	0.0072	0.0002	0.0001	0.0053	0.0046	0	0	0	0	0	0	0	0	0	0.0072	0.009	0.57480	D	0.009	0.66756	D	.	.	.	.	.	.	0.000014	0.62929	U	0.064020	0.999982	0.81001	D	2.93	0.84523	M	.	.	.	-3.52	0.68412	D	0.667	0.67564	-0.2908	0.75243	T	0.352	0.71588	T	6	0.4781714	0.60270	T	0.696326	0.97508	D	0.408	0.72022	0.665	0.80300	0.209943299407	0.20609	0.786613923788286	0.78613	2.75140480427	0.98719	0.950781822205	0.99767	D	0.223269	0.58737	T	0.200785	0.73966	D	0.0506376	0.73627	D	0.126213075725295	0.15028	T	.	.	.	0.4742308	0.65549	0.49301878	0.70675	0.4742308	0.65550	0.49301878	0.70676	-9.206	0.69013	D	.	.	0.889	0.82035	P	.	.	4.966625	0.82161	27.7	0.99563269341180405	0.71892	0.98679	0.85488	D	AEFI	0.782336	0.71365	D	0.185814920163699	0.50519	3.241031	0.172073339097553	0.48324	3.049768	0.999995422830255	0.74766	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	3.82	3.82	0.43153	8.206000	0.89705	11.221000	0.89777	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.157000	0.20547	0.0:0.0:1.0:0.0	14.672	0.68561	265	0.89590	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	119.99	22	chr16	30194996	.	G	A	119.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.769e+00;DP=463;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0250;MLEAC=1;MLEAF=0.024;MQ=27.00;MQRankSum=0.00;QD=3.00;ReadPosRankSum=-6.430e-01;SOR=0.072	GT:AD:DP:GQ:PL	0/0:19,0:19:45:0,45,675	20	0	1	0
chr16	30225638	30225638	C	G	exonic	NPIPB12;NPIPB13	.	nonsynonymous SNV	NPIPB12:NM_001355401:exon8:c.G808C:p.V270L	.	.	1091	421	5	4	1	14	0.0152047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.003	B	0.007	B	.	.	.	.	.	.	1.31	T	-0.974	T	0.035	T	0.139	-0.776	0.742	.	.	.	.	0.061	0.0869475607694	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs202025137	0.0015	0.0037	0.0016	0.0014	0.0072	0.0013	0.0012	0.0050	0.0043	0.0047	0.0072	0.0003	0.0003	0.0002	0.0021	0.0014	0.0022	0.0010	0	0.0003	0	0	.	0	0	.	.	0	.	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.884	0.13403	T	0.003	0.11197	B	0.007	0.12992	B	.	.	.	.	.	.	.	.	.	.	1.31	0.35405	T	1.14	0.01166	N	0.103	0.08646	-0.9744	0.36257	T	0.035	0.15291	T	4	0.0025018156	0.00038	T	0.086948	0.74839	D	0.061	0.17616	0.426	0.47185	.	.	0.005461785062630527	0.00516	.	.	.	.	.	0.002966	0.02360	T	-0.295652	0.09077	T	-0.66246	0.08101	T	0.00112701050323918	0.00011	T	0.476552	0.14308	T	0.095700875	0.22528	0.09085976	0.21331	0.095700875	0.22527	0.09085976	0.21330	1.963	0.00053	T	.	.	0.142	0.31228	B	.;.	.;.	-0.811828	0.01084	0.048	0.62845941236739977	0.07068	0.00123	0.00769	N	AEFI	0.047204	0.07923	N	-0.701241767677131	0.15986	0.8105718	-0.708268021337421	0.16755	0.8878261	1.09648973830877E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	-1.913000	0.01672	-1.731000	0.04830	-1.668000	0.00804	0.001000	0.13787	0.001000	0.17328	0.001000	0.02609	.	.	.	263	0.89692	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04167	107.49	239	chr16	30225638	.	C	G	107.49	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-1.282e+00;DP=239;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.1759;MLEAC=2;MLEAF=0.083;MQ=29.26;MQRankSum=0.00;QD=21.50;ReadPosRankSum=-1.282e+00;SOR=1.981	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,11	11	0	1	9
chr16	30369938	30369938	-	GGGGCT	exonic	TBC1D10B	.	nonframeshift insertion	TBC1D10B:NM_015527:exon1:c.245_246insAGCCCC:p.A83_V84insPA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1281544370	1.597e-05	1.73e-05	1.975e-05	1.182e-05	0.0013	9.73e-06	7.95e-06	0.0005	0.0003	0	0	6.538e-05	0	0	0.0013	9.023e-06	4.522e-05	3.011e-05	2.076e-05	2.073e-05	1.352e-05	2.836e-05	0.0002	5.52e-06	2.53e-06	.	.	0	0	6.688e-05	0	0	0	0	1.574e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	213.03	31	chr16	30369938	.	C	CGGGGCT,*	213.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.53;DP=542;ExcessHet=0.1072;FS=1.550;InbreedingCoeff=-0.0503;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=7.35;ReadPosRankSum=2.10;SOR=1.215	GT:AD:DP:GQ:PL	0/1:8,6,0:14:99:227,0,246,252,264,516	19	0	1	0
chr16	30369938	30369938	C	0	exonic	TBC1D10B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	213.03	31	chr16	30369938	.	C	CGGGGCT,*	213.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.53;DP=542;ExcessHet=0.1072;FS=1.550;InbreedingCoeff=-0.0503;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=7.35;ReadPosRankSum=2.10;SOR=1.215	GT:AD:DP:GQ:PL	0/1:8,6,0:14:99:227,0,246,252,264,516	19	0	1	0
chr16	30506822	30506822	C	T	exonic	ITGAL	.	nonsynonymous SNV	ITGAL:NM_001114380:exon19:c.C2222T:p.P741L	.	.	432	1089	1	0	0	1	0.000458926	.	.	3268025	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.3	T	0.001	B	0.002	B	0.783	N	0.989	N	0.345	N	0.82	T	-1.027	T	0.063	T	0.06	1.644	11.45	-5.8	-1.283	-4.060	8.530	0.027	0.0294837238701	0.0002	.	0.0002	0	0.0004	0	0	0.0003	0	0.0003	0.0001876	29	154602	rs143575422	0.0001	0.0001	0.0001	0.0002	0.0029	0.0001	0.0001	0.0019	0.0015	2.988e-05	0.0006	0.0009	2.52e-05	0	0.0029	9.713e-05	0.0003	0.0003	0.0002	0.0002	0.0001	0.0003	0.0013	0.0002	0.0001	0.0009	0.0007	4.813e-05	0	0.0013	0.0003	0	0	0.0034	8.821e-05	0.0009	0	0.446	0.09776	T	0.128	0.34959	T	0.001	0.07471	B	0.002	0.06944	B	0.783345	0.06668	N	1.128570	0.999974	0.24401	N	0.345	0.11182	N	0.82	0.48142	T	-0.96	0.31170	N	0.098	0.07949	-1.0267	0.21527	T	0.063	0.26101	T	10	0.03488916	0.01713	T	0.029484	0.51987	D	0.027	0.05988	.	.	0.255777322467	0.25185	0.5315906842036567	0.53084	0.314690589697	0.33750	0.2301132828	0.01976	T	0.118782	0.43984	T	-0.597237	0.00152	T	-0.748494	0.03545	T	0.0121207769557344	0.00193	T	0.141086	0.01136	T	0.033154227	0.03479	0.039867222	0.04180	0.033154227	0.03479	0.039867222	0.04180	-5.431	0.41803	T	.	.	0.076	0.06849	B	.;.	.;.	-1.490946	0.00300	0.005	0.89303296252757403	0.18682	0.01046	0.03903	N	AEFDBI	0.092210	0.18671	N	-1.88584618139175	0.00367	0.01577349	-1.92058531586033	0.00446	0.01971518	0.689294968565795	0.22570	0.631515	0.41029	0	0.697927	0.68747	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.2	-5.8	0.02155	-3.767000	0.00418	-7.209000	0.01206	-2.784000	0.00189	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.6441:0.2243:0.1316:0.0	8.530	0.32490	279	0.89001	Integrin alpha-2;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1332.98	36	chr16	30506822	.	C	T	1332.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.986;DP=918;ExcessHet=0.0000;FS=0.755;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=0.466;SOR=0.571	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	20	0	1	0
chr16	30525595	30525595	T	C	exonic	ZNF768	.	nonsynonymous SNV	ZNF768:NM_024671:exon2:c.A545G:p.E182G,	.	.	426	1048	47	1	0	49	0.0228438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.131	B	0.039	B	0.000	D	0.537	N	0	N	3.18	T	-1.014	T	0.012	T	0.39	2.384	13.93	3.94	0.917	0.479	10.160	0.075	.	0.0026	0.00439297	0.0039	0.0038	0.0010	0.0001	0.0002	0.0025	0.0077	0.0150	0.0035316	546	154602	rs61735343	0.0025	0.0025	0.0021	0.0029	0.0150	0.0024	0.0024	0.0144	0.0141	0.0030	0.0010	0.0012	5.038e-05	0.0008	0.0076	0.0017	0.0030	0.0150	0.0029	0.0029	0.0028	0.0030	0.0155	0.0027	0.0026	0.0127	0.0117	0.0037	0	0.0017	0.0012	0	0.0007	0.0102	0.0025	0.0033	0.0155	0.001	0.78490	D	0.199	0.27679	T	0.131	0.27154	B	0.039	0.23607	B	0.000284	0.46274	D	0.000000	0.536829	0.31445	N	0.695	0.17993	N	3.18	0.07711	T	-0.89	0.24026	N	0.186	0.20262	-1.0139	0.25688	T	0.012	0.04558	T	10	0.0043001175	0.00087	T	.	.	.	0.075	0.21907	.	.	0.082315109003	0.07666	0.37202124606213827	0.37116	0.807358794691	0.66551	0.405187904835	0.25790	T	0.007683	0.07071	T	-0.499077	0.00578	T	-0.476692	0.24798	T	0.0276702102265299	0.01641	T	0.630337	0.24523	T	0.20003097	0.41964	0.1916817	0.42640	0.20003097	0.41964	0.1916817	0.42639	-4.114	0.25496	T	.	.	0.089	0.31733	B	.;.	.;.	1.973226	0.25064	16.63	0.99829335475869052	0.91112	0.69092	0.34052	D	AEFDBCI	0.181558	0.30888	N	-0.479766409328176	0.22745	1.216644	-0.309602595949851	0.27787	1.544414	0.999990811413327	0.74766	0.695654	0.57023	0	0.606735	0.50208	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.06	3.94	0.44807	0.000000	0.12910	1.452000	0.26614	0.665000	0.62972	0.005000	0.17040	1.000000	0.68203	0.947000	0.49155	0.0:0.0:0.1678:0.8322	10.160	0.42020	243	0.90483	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	350.98	37	chr16	30525595	.	T	C	350.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.081e+00;DP=960;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.77;ReadPosRankSum=0.663;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:51,0:51:99:.:.:0,120,1800	20	0	1	0
chr16	30555969	30555969	A	C	exonic	ZNF764	.	nonsynonymous SNV	ZNF764:NM_001172679:exon3:c.T449G:p.L150R	.	.	425	1063	32	2	0	36	0.0166512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.0	B	0.001	B	0.252	N	1.000	N	0.345	N	3.28	T	-0.980	T	0.008	T	0.19	-0.901	0.437	-0.749	-0.003	-0.260	4.815	0.022	.	0.0043	0.00499201	0.0039	0.0092	0.0007	0.0001	0.0009	0.0028	0.0081	0.0099	0.0034993	541	154602	rs145819551	0.0022	0.0022	0.0019	0.0025	0.0107	0.0022	0.0021	0.0101	0.0099	0.0094	0.0012	0.0065	0.0002	0.0008	0.0100	0.0013	0.0034	0.0107	0.0041	0.0041	0.0042	0.0040	0.0098	0.0039	0.0038	0.0086	0.0083	0.0094	0	0.0022	0.0069	0	0.0008	0.0205	0.0017	0.0038	0.0098	0.344	0.12552	T	0.38	0.16134	T	0.0	0.02946	B	0.001	0.04355	B	0.252272	0.15484	N	0.480260	1	0.08975	N	0.69	0.16971	N	3.28	0.06681	T	-0.87	0.23590	N	0.165	0.20528	-0.9800	0.35002	T	0.008	0.02926	T	10	0.0039159954	0.00075	T	.	.	.	0.022	0.04323	.	.	0.149567049428	0.14543	0.2104401489772542	0.20960	0.290997932504	0.31501	0.416627287865	0.27373	T	0.006149	0.05589	T	-0.663892	0.00060	T	-0.71845	0.04871	T	6.68280772515573e-05	0.00001	T	0.112089	0.00848	T	0.0801973	0.18363	0.07744414	0.17252	0.0801973	0.18363	0.07744414	0.17251	-1.919	0.02889	T	.	.	0.064	0.01668	B	.;.	.;.	-0.358155	0.02373	0.261	0.37152096643439436	0.02431	0.02813	0.07543	N	AEFDBI	0.042603	0.06630	N	-1.41135848690446	0.02538	0.112211	-1.41896193510169	0.03063	0.1421382	0.94258433574434	0.27528	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.94	-0.749	0.10525	-0.473000	0.06694	-0.370000	0.09613	-1.619000	0.00871	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2684:0.2909:0.4407:0.0	4.815	0.12728	213	0.91726	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	449.98	33	chr16	30555969	.	A	C	449.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.468e+00;DP=829;ExcessHet=0.0000;FS=5.392;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.26;ReadPosRankSum=0.052;SOR=0.792	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr16	30585446	30585446	C	T	exonic	ZNF785	.	nonsynonymous SNV	ZNF785:NM_152458:exon1:c.G166A:p.D56N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.975	D	0.84	P	.	.	1.000	N	2.215	M	4.27	T	-0.999	T	0.124	T	0.179	2.088	12.94	3.54	1.116	0.145	8.258	0.049	0.00696360609539	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1226183413	6.899e-07	6.84e-07	0	1.389e-06	9.035e-07	0	0	.	.	0	0	0	0	0	0	9.035e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.49613	D	0.007	0.79402	D	0.969	0.58077	D	0.752	0.60170	P	.	.	.	.	1	0.08975	N	1.77	0.45869	L	4.27	0.02513	T	-3.45	0.70553	D	0.363	0.40465	-0.9989	0.30227	T	0.124	0.42673	T	9	0.2841559	0.45997	T	0.006964	0.18430	T	0.049	0.13647	0.692	0.82938	0.104622674875	0.10061	0.30478236628952116	0.30391	1.26348763198	0.82096	0.516074180603	0.41074	T	0.034928	0.23517	T	-0.238221	0.15576	T	-0.579964	0.14547	T	0.951933145523071	0.63675	D	0.553645	0.54589	T	0.24069755	0.46976	0.3105039	0.57060	0.24069755	0.46976	0.3105039	0.57060	-8.573	0.64911	D	.	.	0.771	0.76474	P	.;.;.	.;.;.	2.629479	0.34189	19.56	0.99433937094283142	0.64423	0.04824	0.10550	N	ALL	0.053132	0.09546	N	-0.571316381076025	0.19820	1.04033	-0.625030346454832	0.18851	1.008863	0.999999435330717	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.48	3.54	0.39650	-0.000000	0.12910	0.143000	0.15197	0.545000	0.25583	0.000000	0.06391	0.000000	0.08366	0.099000	0.18236	0.0:0.8925:0.0:0.1075	8.258	0.30931	175	0.93230	.;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2388.98	33	chr16	30585446	.	C	T	2388.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=894;ExcessHet=0.0000;FS=4.220;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=-2.100e-01;SOR=0.808	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1159	20	0	1	0
chr16	30662811	30662811	G	A	exonic	FBRS	.	nonsynonymous SNV	FBRS:NM_001105079:exon6:c.G1007A:p.G336D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	.	.	.	.	0.969	U	1.000	D	.	.	1.0	T	-1.106	T	0.085	T	0.3	2.501	14.32	3.94	2.500	2.103	9.894	0.091	0.0148565663711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.022e-06	4.104e-06	1.472e-06	4.656e-06	0.0001	7.1e-07	4.8e-07	3.867e-05	2.296e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.32453	T	0.292	0.20877	T	.	.	.	.	.	.	0.968664	0.08174	U	0.943528	1	0.81001	D	.	.	.	1.0	0.41392	T	-2.74	0.58248	D	0.269	0.30461	-1.1059	0.03447	T	0.085	0.33043	T	7	0.17914927	0.33035	T	0.014857	0.35248	T	0.091	0.26358	0.285	0.24280	0.255117706274	0.25116	0.4703049813164244	0.46949	2.29238177164	0.96400	.	.	.	.	.	.	-0.125482	0.32228	T	-0.418022	0.31303	T	0.698462903499603	0.40646	D	0.644036	0.25562	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.405	0.59860	A	.	.	4.069341	0.60449	24.2	0.99562522056473501	0.71892	0.89958	0.50771	D	AEFDBI	0.295540	0.40563	N	0.11864936002957	0.47333	2.96048	0.168050577766075	0.48107	3.031124	0.999997470218221	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.654045	0.52621	0	0.711	0.71501	0	.	.	3.94	3.94	0.44807	4.921000	0.63096	9.800000	0.81690	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.208:0.792:0.0	9.894	0.40478	31	0.98186	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1004.98	37	chr16	30662811	.	G	A	1004.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.680e-01;DP=797;ExcessHet=0.0000;FS=1.705;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=-6.690e-01;SOR=0.527	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr16	30669223	30669231	GCCGCCGCT	-	exonic	FBRS	.	nonframeshift deletion	FBRS:NM_001105079:exon18:c.2521_2529del:p.A847_A849del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0	0	0.0006	0.0065	0.0003	3.84e-05	1	26028	rs749226697	0.0009	0.0009	0.0010	0.0009	0.0016	0.0009	0.0009	0.0010	0.0010	0.0002	0.0006	0.0011	0	4.226e-05	0.0016	0.0011	0.0007	0.0002	0.0007	0.0007	0.0007	0.0007	0.0012	0.0006	0.0006	0.0010	0.0009	0.0003	0	0.0003	0.0009	0.0002	9.479e-05	0	0.0012	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1053.94	34	chr16	30669222	.	CGCCGCCGCT	C	1053.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.002e+00;DP=808;ExcessHet=0.0000;FS=6.354;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.42;ReadPosRankSum=-4.760e-01;SOR=0.442	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,997	20	0	1	0
chr16	30711901	30711901	G	A	exonic	SRCAP	.	nonsynonymous SNV	SRCAP:NM_006662:exon12:c.G1559A:p.S520N,	Floating-Harbor syndrome, Autosomal dominant	.	0	1498	23	1	0	25	0.00827541	.	.	215513	Inborn_genetic_diseases|not_specified|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.24	T	0.008	B	0.011	B	0.000	D	0.659	D	1.1	L	-2.78	D	-0.100	T	0.529	D	0.133	0.739	7.921	3.9	2.675	1.516	8.365	0.236	0.0459896411407	0.0010	0.000199681	0.0008	0.0002	0.0010	0	0	0.0012	0.0022	6.056e-05	0.0008473	131	154602	rs139339184	0.0009	0.0009	0.0008	0.0009	0.0146	0.0008	0.0008	0.0121	0.0111	0.0008	0.0017	0.0112	0	0	0.0146	0.0006	0.0018	0.0002	0.0009	0.0009	0.0009	0.0010	0.0017	0.0008	0.0008	0.0012	0.0010	0.0001	0	0.0017	0.0112	0	0	0.0103	0.0009	0.0024	0.0002	0.02	0.49613	D	0.222	0.27414	T	0.001	0.07471	B	0.004	0.10090	B	0.000184	0.48115	D	0.092328	0.658629	0.33031	D	0.895	0.22405	L	-2.78	0.90962	D	-0.81	0.22294	N	0.19	0.22742	-0.0999	0.80100	T	0.529	0.82482	D	10	0.007154882	0.00163	T	0.04599	0.62243	D	0.236	0.53931	.	.	0.259504319725	0.25562	0.11843429782996315	0.11770	0.498353759159	0.48309	0.401875674725	0.25330	T	0.036745	0.24220	T	-0.345248	0.05033	T	-0.281931	0.46606	T	0.00806535731850769	0.00096	T	0.681032	0.28992	T	0.081624016	0.18766	0.09546178	0.22642	0.078741044	0.17948	0.11226003	0.27084	-6.963	0.53764	T	0.1370754078210993	0.15048	0.078	0.06756	B	.;.	.;.	3.012945	0.40302	21.1	0.83182990810711588	0.14586	0.86384	0.45653	D	AEFGBCI	0.161643	0.28773	N	-0.193678067596601	0.33398	1.894254	-0.0456428191951091	0.37680	2.209473	0.99991015317967	0.45857	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.86	3.9	0.44240	1.555000	0.35884	4.448000	0.43411	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.719000	0.34739	0.1039:0.0:0.8961:0.0	8.365	0.31544	10	0.99061	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	1873.98	34	chr16	30711901	.	G	A	1873.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.480e-01;DP=812;ExcessHet=0.0000;FS=0.747;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.85;ReadPosRankSum=0.337;SOR=0.580	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1192	20	0	1	0
chr16	30722724	30722724	A	G	exonic	SRCAP	.	nonsynonymous SNV	SRCAP:NM_006662:exon23:c.A3868G:p.S1290G,	Floating-Harbor syndrome, Autosomal dominant	.	4	1504	13	1	0	15	0.00496196	.	.	215514	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.24	T	0.001	B	0.002	B	.	.	1.000	D	0	N	-2.79	D	-0.327	T	0.464	T	0.275	0.866	8.507	5.17	2.181	3.145	12.628	0.228	0.0421634922354	0.0007	0.000199681	0.0007	0.0001	0.0010	0	0	0.0010	0.0023	6.316e-05	0.0006921	107	154602	rs150246733	0.0008	0.0008	0.0007	0.0008	0.0123	0.0007	0.0007	0.0100	0.0092	0.0007	0.0017	0.0111	0	0	0.0123	0.0005	0.0016	0.0002	0.0008	0.0008	0.0008	0.0009	0.0017	0.0007	0.0007	0.0012	0.0010	9.687e-05	0	0.0017	0.0115	0	0	0.0103	0.0007	0.0024	0.0002	0.012	0.54683	D	0.36	0.16964	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.81001	D	0	0.06538	N	-2.79	0.91019	D	-0.89	0.24026	N	0.372	0.41360	-0.3268	0.74227	T	0.464	0.79290	T	9	0.0070759654	0.00161	T	0.042163	0.60319	D	0.228	0.52768	.	.	0.196089822672	0.19227	0.10589574340905208	0.10519	0.160446265012	0.18105	0.536005973816	0.43882	T	0.033479	0.22931	T	-0.291006	0.09535	T	-0.204017	0.54265	T	0.0196527238499375	0.00668	T	0.676632	0.28519	T	0.17132546	0.37759	0.20662768	0.44885	0.16964987	0.37494	0.20347625	0.44425	-4.127	0.25687	T	.	.	0.169	0.37216	B	.	.	3.587977	0.50618	23.0	0.91080902402831332	0.20333	0.91296	0.53248	D	AEFDGBHCI	0.193614	0.32072	N	-0.232783005405335	0.31797	1.78651	-0.0025184900673401	0.39601	2.350584	0.999999999785379	0.74766	0.562547	0.31514	0	0.379588	0.06130	0	0.608884	0.39905	0	0.508809	0.08732	0	.	.	5.17	5.17	0.70848	2.416000	0.44298	8.121000	0.76624	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	12.628	0.55999	10	0.99061	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	959.98	43	chr16	30722724	.	A	G	959.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.862e+00;DP=802;ExcessHet=0.0000;FS=4.115;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=-1.541e+00;SOR=0.380	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1020	20	0	1	0
chr16	30738427	30738427	T	C	exonic	SRCAP	.	nonsynonymous SNV	SRCAP:NM_006662:exon34:c.T8387C:p.M2796T,	Floating-Harbor syndrome, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	1604416	SRCAP-related_disorder|not_provided|Floating-Harbor_syndrome|Developmental_delay,_hypotonia,_musculoskeletal_defects,_and_behavioral_abnormalities	.|MedGen:C3661900|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140,Orphanet:2044|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.29	T	0.0	B	0.0	B	0.883	N	1.000	N	0	N	-2.69	D	-0.682	T	0.400	T	0.091	-0.999	0.261	1.34	0.423	0.082	0.358	0.167	0.038169963288	0.0003	0.000199681	0.0003	0.0002	0	0	0	0.0002	0	0.0020	0.0002975	46	154602	rs143103128	0.0004	0.0004	0.0003	0.0004	0.0025	0.0003	0.0003	0.0023	0.0021	0	0.0001	0	0	9.773e-05	0.0004	0.0003	0.0001	0.0025	0.0002	0.0002	0.0001	0.0004	0.0027	0.0002	0.0002	0.0016	0.0013	2.407e-05	0	0	0	0	0	0	0.0003	0.0005	0.0027	0.123	0.27544	T	0.765	0.04555	T	0.0	0.02946	B	0.0	0.01387	B	0.883376	0.07250	N	1.055400	0.999999	0.08975	N	0.805	0.20218	L	-2.7	0.90509	D	-1.22	0.30964	N	0.125	0.31925	-0.6823	0.61266	T	0.400	0.75173	T	10	0.0046290755	0.00097	T	0.03817	0.58060	D	0.167	0.42761	.	.	0.110392049598	0.10638	0.15434696611579132	0.15355	0.203738914197	0.22792	0.417040884495	0.27430	T	0.041397	0.25843	T	-0.410182	0.01982	T	-0.368142	0.37106	T	0.016425758600235	0.00409	T	0.509849	0.16238	T	0.10127178	0.23920	0.08636835	0.20004	0.10127178	0.23920	0.08636835	0.20003	-0.819	0.00820	T	0.12193819156799265	0.11627	0.099	0.16670	B	.;.	.;.	0.642632	0.10110	6.857	0.68764329820924086	0.08759	0.08942	0.14793	N	AEFDBCI	0.042563	0.06619	N	-0.913336322842721	0.10529	0.5036011	-0.846724244978009	0.13366	0.6930047	0.939897076868758	0.27408	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.04	1.34	0.21018	0.210000	0.17249	0.741000	0.21161	0.609000	0.47794	0.001000	0.13787	0.138000	0.23065	0.564000	0.30507	0.1916:0.2312:0.174:0.4032	0.358	0.00336	10	0.99061	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	800.98	38	chr16	30738427	.	T	C	800.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.93;DP=771;ExcessHet=0.0000;FS=0.989;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.58;ReadPosRankSum=0.038;SOR=0.536	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,114,1430	20	0	1	0
chr16	30769521	30769521	G	A	exonic	RNF40	.	nonsynonymous SNV	RNF40:NM_001207034:exon15:c.G2207A:p.R736Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.74	P	0.129	B	0.000	D	1.000	D	1.965	M	1.42	T	-0.970	T	0.100	T	0.324	2.989	15.97	6.06	2.880	5.183	19.401	0.113	0.0184350727642	.	.	9.221e-06	0	0	0	0	0	0	6.72e-05	6.5e-06	1	154602	rs564561453	3.422e-06	4.79e-06	4.086e-06	2.752e-06	0.0002	1e-06	7.3e-07	9.25e-06	4.56e-06	0	0	0	0	0	0.0002	8.998e-07	0	3.481e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.05	0.48080	T	0.134	0.42962	B	0.012	0.32841	B	0.000001	0.84330	D	0.054195	0.999979	0.58761	D	2.395	0.69210	M	1.39	0.33842	T	-2.19	0.57110	N	0.239	0.28849	-0.9698	0.37242	T	0.100	0.37085	T	10	0.22925094	0.39848	T	0.018435	0.40505	T	0.113	0.31778	0.277	0.23004	0.505559545342	0.50193	0.2531823414686087	0.25232	0.965590913833	0.73163	0.520609915257	0.41713	T	0.448433	0.79032	T	-0.16439	0.26088	T	-0.373282	0.36506	T	0.227643892168999	0.21839	T	0.916008	0.70203	D	0.21254015	0.43609	0.24261579	0.49686	0.21254015	0.43609	0.24261579	0.49685	-8.738	0.66138	D	.	.	0.138	0.30076	B	.;.;.;.	.;.;.;.	4.056944	0.60177	24.2	0.99832104377601494	0.91370	0.91416	0.53489	D	AEFDBCI	0.733179	0.67970	D	0.228311287782227	0.52576	3.430822	0.333413419474095	0.57512	3.917376	0.999999999993764	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.06	6.06	0.98340	5.268000	0.65349	8.606000	0.77748	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.878000	0.41950	0.0:0.0:1.0:0.0	19.401	0.94618	10	0.99061	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1349.98	38	chr16	30769521	.	G	A	1349.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.012e+00;DP=852;ExcessHet=0.0000;FS=3.187;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.09;ReadPosRankSum=-5.950e-01;SOR=1.114	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1225	20	0	1	0
chr16	31061322	31061322	G	A	exonic	ZNF668	.	nonsynonymous SNV	ZNF668:NM_001172668:exon3:c.C1606T:p.R536C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.971	D	0.000	D	1.000	D	2.545	M	1.78	T	-0.855	T	0.153	T	0.499	3.829	19.45	4.06	1.316	3.598	9.553	0.340	0.0451001390635	.	.	.	.	.	.	.	.	.	.	.	.	.	rs150560360	2.08e-06	4.788e-06	2.75e-06	1.398e-06	2.724e-06	5.5e-07	1.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.724e-06	0	0	6.572e-06	6.567e-06	0	1.345e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.001	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	0.000058	0.53742	D	0.073526	0.999728	0.48557	D	.	.	.	1.78	0.25678	T	-5.6	0.86608	D	0.52	0.55019	-0.8548	0.51634	T	0.153	0.48222	T	10	0.45184147	0.58747	T	0.045	0.61813	D	0.340	0.66202	0.713	0.84872	0.533997809139	0.53049	0.717452456123212	0.71688	2.22324046253	0.95858	0.79771733284	0.81616	T	.	.	.	-0.0366704	0.46442	T	-0.290451	0.45727	T	0.993249893188477	0.83967	D	0.966503	0.87759	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.839	0.80619	P	.;.;.;.;.;.	.;.;.;.;.;.	5.244729	0.88051	29.5	0.99895265104925035	0.96819	0.95835	0.66357	D	AEFBI	0.673591	0.63960	D	0.599025949532064	0.73112	5.913435	0.527724700918501	0.69863	5.42137	0.999996705239606	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	5.04	4.06	0.46572	2.743000	0.47117	.	.	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.992000	0.67800	0.0:0.1553:0.684:0.1607	9.553	0.38488	45	0.97767	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1630.98	117	chr16	31061322	.	G	A	1630.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=824;ExcessHet=0.0000;FS=3.391;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=-1.687e+00;SOR=0.486	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,975	20	0	1	0
chr16	31076950	31076950	A	C	exonic	ZNF646	.	nonsynonymous SNV	ZNF646:NM_014699:exon2:c.A626C:p.N209T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.999	D	0.961	D	.	.	0.746	D	1.04	L	3.19	T	-1.016	T	0.042	T	0.254	3.382	17.41	5.92	2.263	6.094	15.347	0.132	0.00563634023875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.91255	D	0.011	0.92824	D	0.999	0.77913	D	0.961	0.70482	D	.	.	.	.	0.745707	0.33872	D	2.175	0.60977	M	3.1	0.08283	T	-2.25	0.50337	N	0.455	0.49237	-1.0161	0.24980	T	0.042	0.17994	T	9	0.2752136	0.45079	T	0.005636	0.14560	T	0.132	0.35948	0.227	0.15257	0.515259903717	0.51168	0.4050556992899627	0.40421	0.745244495564	0.63480	0.745844304562	0.73833	T	0.03682	0.24246	T	-0.179911	0.23749	T	-0.496206	0.22742	T	0.875014901161194	0.52488	D	0.755524	0.38711	T	0.16358797	0.36510	0.21670878	0.46308	0.16358797	0.36509	0.21670878	0.46307	-3.027	0.10475	T	.	.	0.527	0.68123	A	.;.;.	.;.;.	3.721802	0.53189	23.3	0.99502815887965335	0.68147	0.97429	0.74694	D	AEFDBCI	0.575422	0.57782	D	0.539262164566397	0.69429	5.355856	0.587058056165243	0.74012	6.065137	0.999999470331451	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.92	5.92	0.95557	0.407000	0.20770	.	.	0.756000	0.94297	0.000000	0.06391	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	15.347	0.74064	41	0.97903	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	964.98	34	chr16	31076950	.	A	C	964.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=833;ExcessHet=0.0000;FS=0.850;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=-4.920e-01;SOR=0.843	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1436	20	0	1	0
chr16	31078799	31078799	C	G	exonic	ZNF646	.	nonsynonymous SNV	ZNF646:NM_014699:exon2:c.C2475G:p.D825E,	.	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.347	B	0.12	B	.	.	0.698	N	-0.185	N	1.12	T	-1.028	T	0.037	T	0.375	2.466	14.20	2.0	1.222	-0.092	1.824	0.056	0.00810722664768	0.0005	.	0.0006	9.615e-05	0	0	0	0.0012	0	0	0.0005886	91	154602	rs201724134	0.0005	0.0005	0.0005	0.0005	0.0019	0.0005	0.0005	0.0011	0.0008	0	0.0002	0.0087	0	1.88e-05	0.0019	0.0004	0.0009	3.478e-05	0.0004	0.0004	0.0005	0.0003	0.0005	0.0004	0.0003	0.0004	0.0003	9.616e-05	0	0.0002	0.0075	0	0	0.0034	0.0005	0	0	0.63	0.05262	T	0.86	0.03409	T	0.347	0.33585	B	0.12	0.32230	B	.	.	.	.	0.697724	0.30132	N	-0.215	0.03996	N	1.12	0.38718	T	0.45	0.03191	N	0.422	0.46180	-1.0282	0.21038	T	0.037	0.15986	T	9	0.007028818	0.00160	T	0.008107	0.21495	T	0.056	0.15993	0.269	0.21735	0.315609569513	0.31162	0.08840826479099302	0.08773	0.720697713483	0.62191	0.535601854324	0.43824	T	0.001295	0.00775	T	-0.421995	0.01661	T	-0.485362	0.23878	T	0.0250111964375122	0.01274	T	0.589941	0.21689	T	0.047258515	0.08048	0.048973244	0.07386	0.047258515	0.08048	0.048973244	0.07385	-2.383	0.05029	T	.	.	0.325	0.65933	B	.;.	.;.	0.834490	0.12059	8.615	0.99442568861134273	0.64870	0.30128	0.24002	N	AEFDBCI	0.046896	0.07838	N	-0.731723346408216	0.15133	0.7600686	-0.588835717459221	0.19783	1.063003	0.999834270481989	0.43792	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.25	2.0	0.25495	-0.736000	0.04987	.	.	-0.193000	0.09282	0.000000	0.06391	0.001000	0.17328	0.989000	0.64315	0.2223:0.4762:0.1307:0.1708	1.824	0.02928	41	0.97903	.;Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1827.98	55	chr16	31078799	.	C	G	1827.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.260;DP=1063;ExcessHet=0.0000;FS=1.256;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=-2.880e-01;SOR=0.591	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,119,1645	20	0	1	0
chr16	31078861	31078861	G	T	exonic	ZNF646	.	nonsynonymous SNV	ZNF646:NM_014699:exon2:c.G2537T:p.G846V,	.	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.975	D	.	.	1.000	D	1.085	L	0.99	T	-0.862	T	0.170	T	0.554	3.589	18.28	4.14	1.151	2.188	12.486	0.246	0.0276130091604	0.0005	.	0.0006	9.623e-05	0	0	0	0.0012	0	0	0.0005821	90	154602	rs200280714	0.0005	0.0005	0.0005	0.0005	0.0019	0.0005	0.0005	0.0011	0.0008	0	0.0002	0.0087	0	1.881e-05	0.0019	0.0004	0.0009	3.478e-05	0.0004	0.0004	0.0005	0.0003	0.0005	0.0004	0.0003	0.0004	0.0003	9.616e-05	0	0.0002	0.0075	0	0	0.0034	0.0005	0	0	0.003	0.68238	D	0.002	0.83351	D	1.0	0.90584	D	0.975	0.73362	D	.	.	.	.	1	0.81001	D	0.865	0.21413	L	0.99	0.41750	T	-3.04	0.62863	D	0.441	0.47949	-0.8619	0.51126	T	0.170	0.51069	T	9	0.009357244	0.00211	T	0.027613	0.50399	D	0.246	0.55340	.	.	0.629112818682	0.62608	0.3320225741407019	0.33115	0.757533882034	0.64076	0.626607656479	0.56663	T	0.052004	0.29039	T	-0.305722	0.08131	T	-0.318344	0.42756	T	0.0838807364977643	0.10476	T	0.733627	0.34942	T	0.35904953	0.57763	0.42348433	0.66217	0.35904953	0.57763	0.42348433	0.66217	-6.366	0.49244	T	.	.	0.593	0.73313	P	.;.	.;.	4.101628	0.61165	24.3	0.9974127322937193	0.83555	0.95002	0.63082	D	AEFDBCI	0.421434	0.48785	N	0.388789474771594	0.60815	4.274611	0.376796861281908	0.60138	4.198123	0.999999502269613	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.1	4.14	0.47821	2.060000	0.41020	.	.	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.995000	0.73285	0.0827:0.0:0.9173:0.0	12.486	0.55216	41	0.97903	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1751.98	55	chr16	31078861	.	G	T	1751.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.336;DP=1058;ExcessHet=0.0000;FS=0.612;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=-3.610e-01;SOR=0.613	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,119,1645	20	0	1	0
chr16	31080387	31080387	C	T	exonic	ZNF646	.	nonsynonymous SNV	ZNF646:NM_014699:exon2:c.C4063T:p.R1355W,	.	.	418	1095	8	1	0	10	0.00454545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.517	P	0.063	B	.	.	1.000	N	0.805	L	2.98	T	-0.993	T	0.017	T	0.314	2.530	14.42	4.3	1.426	.	4.795	0.046	0.0110771603612	7.7e-05	.	0.0003	0	0.0021	0	0	7.677e-05	0	0.0001	0.0002329	36	154602	rs200795473	0.0003	0.0003	0.0003	0.0003	0.0016	0.0003	0.0002	0.0013	0.0012	0	0.0016	0	0	1.901e-05	0.0010	0.0003	0.0003	0.0002	7.875e-05	7.873e-05	7.707e-05	8.052e-05	0.0002	4.492e-05	3.508e-05	2.846e-05	1.858e-05	7.213e-05	0	0.0001	0	0	0	0	7.349e-05	0.0005	0.0002	0.002	0.72154	D	0.008	0.67890	D	0.517	0.37451	P	0.063	0.27082	B	.	.	.	.	1	0.08975	N	2.095	0.58118	M	2.95	0.09635	T	-1.94	0.45042	N	0.259	0.29313	-0.9926	0.31933	T	0.017	0.06807	T	9	0.019007504	0.00419	T	0.011077	0.28332	T	0.046	0.12618	.	.	0.514587094315	0.51101	0.36539140185632996	0.36453	0.766464379829	0.64535	0.510289311409	0.40263	T	0.091859	0.38883	T	-0.509863	0.00503	T	-0.51839	0.20458	T	0.092089266843435	0.11463	T	0.883212	0.60517	D	0.0581779	0.11674	0.06427366	0.12857	0.0581779	0.11673	0.06427366	0.12857	-7.089	0.54681	T	.	.	0.194	0.47005	B	.;.	.;.	2.938689	0.39066	20.9	0.99873842004282454	0.95076	0.45825	0.27624	N	AEFDBHCI	0.130391	0.24893	N	-0.171405448836957	0.34328	1.958102	-0.0909539969250169	0.35763	2.072948	0.999996706874999	0.74766	0.712529	0.81865	0	0.577304	0.33150	0	0.635938	0.45252	0	0.636168	0.56350	0	.	.	5.26	4.3	0.50540	-0.063000	0.11612	.	.	0.599000	0.40250	0.002000	0.15269	0.991000	0.31484	0.502000	0.29062	0.1833:0.6582:0.0:0.1585	4.795	0.12634	41	0.97903	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2410.11	58	chr16	31080387	.	C	T	2410.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.87;DP=1245;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=-2.480e-01;SOR=0.698	GT:AD:DP:GQ:PL	0/1:55,47:102:99:1119,0,1220	19	0	2	0
chr16	31094710	31094710	C	A	exonic	VKORC1	.	nonsynonymous SNV	VKORC1:NM_001311311:exon1:c.G20T:p.S7I	Vitamin K-dependent clotting factors, combined deficiency of, 2;Warfarin resistance, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.877	P	0.368	B	0.501	N	0.958	D	0.69	N	-3.02	D	0.153	D	0.744	D	0.137	4.867	27.8	-6.99	-1.174	-0.226	8.092	0.222	0.161481074305	.	.	3.933e-05	0	0	0	0	4.801e-05	0	7.795e-05	1.94e-05	3	154602	rs755166588	1.993e-05	2.189e-05	2.051e-05	1.934e-05	8.167e-05	1.398e-05	1.209e-05	3.787e-05	2.675e-05	0	0	0	2.527e-05	0	0	1.711e-05	3.325e-05	8.167e-05	1.97e-05	1.97e-05	0	4.033e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0.0002	0.117	0.51248	T	0.01	0.65728	D	0.001	0.07471	B	0.001	0.04355	B	0.500702	0.11953	N	0.745447	0.958088	0.38057	D	1.355	0.33814	L	-4.1	0.98066	D	0.11	0.08495	N	0.273	0.30914	0.153	0.85116	D	0.744	0.91270	D	9	0.108789444	0.20267	T	0.161481	0.84126	D	0.222	0.51872	0.358	0.36060	0.571517596161	0.56818	0.6782817814199165	0.67767	0.525427782564	0.50207	0.493508338928	0.37926	T	0.074251	0.34893	T	0.0266393	0.55274	T	-0.199511	0.54693	T	0.29608166217804	0.24842	T	0.817118	0.47523	T	0.09535187	0.22439	0.067633286	0.14018	0.09535187	0.22438	0.067633286	0.14017	-5.896	0.46464	T	.	.	0.216	0.48928	B	.;.;.;.;.;.	.;.;.;.;.;.	0.555164	0.09238	6.020	0.98287027986824549	0.39907	0.23841	0.22205	N	ALL	0.169751	0.29661	N	-1.2737141198175	0.03995	0.1795083	-1.35928966037822	0.03697	0.1730138	0.999999999999999	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.63	-6.99	0.01449	-0.414000	0.07179	.	.	-1.011000	0.01765	0.898000	0.31380	0.000000	0.08366	0.774000	0.36673	0.1148:0.5945:0.0:0.2907	8.092	0.29964	41	0.97903	.;.;Vitamin K epoxide reductase;.;.;Vitamin K epoxide reductase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	698.98	35	chr16	31094710	.	C	A	698.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.331e+00;DP=797;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=-2.928e+00;SOR=0.641	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1183	20	0	1	0
chr16	31135426	31135426	G	A	exonic	PRSS8	.	nonsynonymous SNV	PRSS8:NM_002773:exon1:c.C73T:p.R25W,	.	.	408	1113	1	0	0	1	0.000449035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.988	D	0.451	P	0.892	N	1.000	N	1.59	L	-3.13	D	-0.213	T	0.647	D	0.391	1.831	12.08	0.23	-0.005	1.030	4.248	0.358	0.209666637487	.	0.000199681	0.0004	0	0.0005	0.0013	0	0.0004	0	0.0003	0.0002005	31	154602	rs532468966	0.0002	0.0002	0.0001	0.0002	0.0023	0.0001	0.0001	0.0013	0.0011	3.042e-05	0.0006	0.0009	0.0002	0	0.0023	0.0001	0.0004	0.0003	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0006	0.0005	7.216e-05	0	0.0010	0.0003	0.0006	0	0.0034	7.351e-05	0.0009	0	0.014	0.53900	D	0.017	0.60337	D	0.988	0.62325	D	0.451	0.46123	P	0.892403	0.07304	N	1.072940	1	0.08975	N	1.15	0.29295	L	-3.13	0.92829	D	-1.18	0.33598	N	0.14	0.35727	-0.2135	0.77322	T	0.647	0.87692	D	10	0.047632188	0.04106	T	0.209667	0.87211	D	0.358	0.67872	.	.	0.849139436813	0.84769	0.4179421238124514	0.41710	0.292289378389	0.31640	0.220027267933	0.01311	T	0.284802	0.65759	T	-0.171839	0.24957	T	-0.130578	0.60922	T	0.0418994238438814	0.04037	T	0.523548	0.18382	T	0.058419842	0.11750	0.073325835	0.15921	0.058419842	0.11750	0.073325835	0.15920	-4.097	0.25246	T	.	.	0.085	0.44872	B	.;.;.;.	.;.;.;.	1.586757	0.20298	14.68	0.9447025868745057	0.24918	0.14100	0.18222	N	AEFDGBCI	0.331544	0.43124	N	-0.881481916425277	0.11284	0.543704	-1.03147842096084	0.09097	0.4507206	0.999904435987631	0.45458	0.441713	0.08003	0	0.547309	0.14657	0	0.52208	0.10781	0	0.613276	0.41899	0	.	.	4.42	0.23	0.14643	0.675000	0.24912	.	.	-1.675000	0.00794	0.120000	0.23175	0.520000	0.25304	0.011000	0.09372	0.2874:0.1687:0.5439:0.0	4.248	0.10130	59	0.97452	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	402.98	36	chr16	31135426	.	G	A	402.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.600e-02;DP=744;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.83;ReadPosRankSum=0.459;SOR=0.518	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:24,0:24:72:.:.:0,72,816	20	0	1	0
chr16	31145886	31145886	C	T	exonic	PRSS36	.	nonsynonymous SNV	PRSS36:NM_001258290:exon6:c.G623A:p.C208Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.999	D	.	.	0.957	D	0.75	N	-2.38	D	0.275	D	0.660	D	0.813	3.117	16.42	4.5	2.572	1.615	9.159	0.522	0.0582993286691	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1032870365	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	6.569e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.043	0.53172	D	0.07	0.43721	T	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.957242	0.38014	D	1.12	0.28775	L	-2.38	0.88298	D	-6.16	0.90215	D	0.516	0.55799	0.275	0.87145	D	0.660	0.88201	D	9	0.4477556	0.58505	T	0.058299	0.67271	D	0.522	0.79704	0.48	0.55983	0.93263670735	0.93194	0.6411442760158182	0.64049	0.982308939305	0.73784	0.66545778513	0.62190	T	0.428902	0.77788	T	0.241232	0.77777	D	0.108737	0.77488	D	0.96235853433609	0.66344	D	0.70293	0.31283	T	0.2918633	0.52165	0.67567563	0.80955	0.2918633	0.52165	0.67567563	0.80956	-13.323	0.90951	D	.	.	0.928	0.84845	P	.;.;.	.;.;.	4.680325	0.74895	26.2	0.99653875570988248	0.77505	0.68825	0.33949	D	AEFDBI	0.228452	0.35212	N	0.370853821329351	0.59848	4.167842	0.372205516430466	0.59855	4.167	0.99959377403484	0.40745	0.446893	0.09132	0	0.563428	0.19063	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	5.45	4.5	0.54382	1.316000	0.33226	.	.	0.549000	0.26987	0.968000	0.34134	1.000000	0.68203	0.749000	0.35751	0.0:0.9033:0.0:0.0967	9.159	0.36171	65	0.97253	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	558.98	34	chr16	31145886	.	C	T	558.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.780e-01;DP=758;ExcessHet=0.0000;FS=1.074;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.16;ReadPosRankSum=0.825;SOR=0.941	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1140	20	0	1	0
chr16	31182662	31182662	A	G	exonic	FUS	.	nonsynonymous SNV	FUS:NM_001170634:exon3:c.A188G:p.N63S	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia;Tremor, hereditary essential, 4, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	0.0002	0.026	797312	Tremor,_hereditary_essential,_4|Amyotrophic_lateral_sclerosis_type_6|not_provided|Inborn_genetic_diseases|FUS-related_disorder	MONDO:MONDO:0013888,MedGen:C3539195,OMIM:614782|MONDO:MONDO:0011951,MedGen:C2931786,OMIM:608030,Orphanet:275872,Orphanet:803|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.9	T	0.001	B	0.006	B	0.022	N	0.998	N	-1.195	N	-1.16	T	-0.960	T	0.121	T	0.22	0.036	4.203	2.28	-0.087	0.535	9.978	0.200	0.0143948893286	0.0002	0.000199681	0.0002	0.0004	0.0004	0	0	0.0002	0	0.0001	0.0001617	25	154602	rs140883211	0.0002	0.0002	0.0001	0.0002	0.0033	0.0001	0.0001	0.0022	0.0018	0.0003	0.0006	0.0009	2.519e-05	0	0.0033	9.802e-05	0.0004	0.0002	0.0003	0.0003	0.0003	0.0004	0.0010	0.0003	0.0002	0.0007	0.0005	0.0005	0	0.0010	0.0003	0	0	0.0068	0.0001	0.0019	0	0.887	0.09989	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.12133	B	0.021851	0.26750	N	0.378699	0.999314	0.22181	N	-0.34	0.03507	N	-1.16	0.78082	T	0.4	0.03463	N	0.077	0.07673	-0.9597	0.39236	T	0.121	0.42079	T	10	0.014752597	0.00315	T	0.014395	0.34491	T	0.200	0.48430	.	.	0.479326550349	0.47562	0.07794368324439402	0.07730	0.154217233389	0.17409	0.57460129261	0.49326	T	0.199672	0.55701	T	-0.350978	0.04666	T	-0.39476	0.33996	T	0.00585370891063379	0.00064	T	0.571443	0.20534	T	0.1725522	0.37953	0.09965009	0.23801	0.1725522	0.37952	0.09965009	0.23800	-2.147	0.03791	T	.	.	0.063	0.02091	B	.;.;.	.;.;.	1.501652	0.19302	14.19	0.393638375627333	0.02712	0.73215	0.35816	D	AEFDGBCI	0.280507	0.39431	N	-1.26488135487707	0.04106	0.1846999	-1.03254999708391	0.09074	0.4494641	0.999992218352416	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.72	2.28	0.27583	0.715000	0.25493	.	.	-0.070000	0.16343	1.000000	0.71638	1.000000	0.68203	0.864000	0.41028	0.7281:0.0:0.2719:0.0	9.978	0.40966	203	0.92088	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	876.98	50	chr16	31182662	.	A	G	876.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.07;DP=874;ExcessHet=0.0000;FS=0.993;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.09;ReadPosRankSum=0.998;SOR=0.845	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr16	31214917	31214917	C	T	exonic	TRIM72	.	nonsynonymous SNV	TRIM72:NM_001008274:exon2:c.C179T:p.T60M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.877	P	0.000	D	0.530	N	1.75	L	-1.82	D	0.399	D	0.637	D	0.504	4.229	22.0	4.08	1.126	1.431	12.357	0.383	0.685430119692	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.358e-07	8.209e-06	1.452e-06	0	2.998e-05	0	0	.	.	0	0	0	2.998e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.012	0.63918	D	1.0	0.90584	D	0.877	0.62241	P	0.000182	0.48115	D	0.088794	0.530	0.31499	N	2.465	0.71551	M	-1.82	0.84047	D	-0.35	0.12847	N	0.249	0.28146	0.399	0.89074	D	0.637	0.87297	D	10	0.42349812	0.57020	T	0.68543	0.97401	D	0.383	0.70029	0.26	0.20315	0.914354741141	0.91349	0.40577264688619147	0.40493	.	.	0.884910225868	0.94612	D	0.149936	0.48918	T	0.0510205	0.58474	T	-0.164489	0.57945	T	0.810215473175049	0.47062	D	0.841416	0.51702	T	0.08362331	0.19319	0.14446956	0.34297	0.08362331	0.19318	0.14446956	0.34296	-7.997	0.61050	D	.	.	0.191	0.52688	B	.;.	.;.	4.264420	0.64833	24.8	0.99848203687429182	0.92750	0.32800	0.24673	N	AEFDBHCI	0.138754	0.26015	N	0.15644562709631	0.49116	3.115765	0.0632836872505683	0.42718	2.588756	0.999999944930107	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	5.03	4.08	0.46880	0.768000	0.26252	.	.	0.510000	0.23265	0.000000	0.06391	1.000000	0.68203	0.528000	0.29660	0.0:0.916:0.0:0.084	12.357	0.54507	184	0.92813	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	999.98	50	chr16	31214917	.	C	T	999.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.192e+00;DP=766;ExcessHet=0.0000;FS=3.303;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.00;ReadPosRankSum=-1.640e-01;SOR=0.353	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,940	20	0	1	0
chr16	31215123	31215123	C	T	exonic	TRIM72	.	nonsynonymous SNV	TRIM72:NM_001008274:exon2:c.C385T:p.L129F,	.	.	413	1108	1	0	0	1	0.00045106	.	.	2347966	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.28	T	0.808	P	0.206	B	0.005	N	0.860	D	1.04	L	0.34	T	-0.988	T	0.086	T	0.205	2.229	13.41	2.67	1.222	1.816	7.559	0.061	0.0590316519004	.	.	0.0002	0	0.0005	0	0	0.0002	0	0	9.06e-05	14	154602	rs200603153	0.0001	0.0001	0.0001	0.0001	0.0034	0.0001	9.604e-05	0.0020	0.0015	0	0.0006	0.0009	3.154e-05	0	0.0034	8.381e-05	0.0002	0.0002	0.0002	0.0002	0.0001	0.0003	0.0010	0.0001	0.0001	0.0007	0.0005	2.408e-05	0	0.0010	0.0003	0	0	0.0068	8.822e-05	0.0014	0	0.04	0.42199	D	0.159	0.31527	T	0.808	0.45299	P	0.206	0.37138	B	0.005120	0.33089	N	0.202901	0.859548	0.35363	D	0.695	0.17993	N	0.34	0.58176	T	0.45	0.03191	N	0.173	0.18512	-0.9878	0.33151	T	0.086	0.33382	T	10	0.07578817	0.11758	T	0.059032	0.67525	D	0.061	0.17616	0.407	0.44066	0.704087261418	0.70151	0.19296546365021153	0.19214	.	.	0.714399933815	0.69231	T	0.049976	0.28463	T	-0.341328	0.05297	T	-0.433235	0.29568	T	0.0392220785148804	0.03550	T	0.709329	0.31993	T	0.10593813	0.25049	0.10752439	0.25887	0.10593813	0.25049	0.10752439	0.25886	-5.624	0.43011	T	.	.	0.314	0.58611	B	.;.	.;.	3.756474	0.53871	23.4	0.98922636866237112	0.48583	0.85827	0.45004	D	AEFDBHCI	0.197113	0.32405	N	-0.270625150302651	0.30288	1.687391	-0.246118629197137	0.29905	1.679301	0.999999512614366	0.74766	0.652421	0.48094	0	0.541168	0.11318	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	4.93	2.67	0.30756	1.963000	0.40076	.	.	0.530000	0.24713	0.996000	0.39380	1.000000	0.68203	0.897000	0.43391	0.2239:0.6821:0.0:0.094	7.559	0.27005	184	0.92813	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	86.98	14	chr16	31215123	.	C	T	86.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.13;DP=419;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.70;ReadPosRankSum=0.755;SOR=0.892	GT:AD:DP:GQ:PL	0/0:17,0:17:39:0,39,585	20	0	1	0
chr16	31357322	31357322	G	C	exonic	ITGAX	.	nonsynonymous SNV	ITGAX:NM_000887:exon5:c.G388C:p.G130R	.	.	340	1181	1	0	0	1	0.000423191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.908	P	0.706	P	.	.	1.000	N	1.985	M	-1.17	T	-0.477	T	0.401	T	0.161	3.459	17.72	-6.87	-1.254	-0.526	8.393	0.322	0.00455921779435	7.7e-05	.	8.674e-05	0	0	0	0	0.0002	0	0	4.53e-05	7	154602	rs201621258	5.564e-05	5.678e-05	3.825e-05	7.324e-05	2.343e-05	4.562e-05	4.173e-05	1.63e-05	1.385e-05	0	2.261e-05	0.0016	0	0	0	2.343e-05	0.0002	0	3.943e-05	3.94e-05	1.285e-05	6.725e-05	2.94e-05	1.715e-05	1.129e-05	4.88e-06	1.83e-06	0	0	0	0.0012	0	0	0	2.94e-05	0	0	0.053	0.39334	T	0.013	0.63918	D	0.908	0.50127	P	0.706	0.54345	P	.	.	.	.	1	0.08975	N	1.645	0.42016	L	-1.17	0.78199	T	-3.42	0.67241	D	0.237	0.26717	-0.4768	0.69483	T	0.401	0.75259	T	9	0.09536967	0.17027	T	0.004559	0.11252	T	0.322	0.64420	.	.	0.615520507219	0.61241	0.4617526456154004	0.46093	0.266147058046	0.29158	0.263174086809	0.05274	T	0.496731	0.81890	T	-0.173017	0.24780	T	-0.373812	0.36443	T	0.249389544123547	0.22845	T	0.312169	0.06100	T	0.28977	0.51971	0.27188244	0.53093	0.28977	0.51971	0.27188244	0.53092	-6.319	0.48872	T	.	.	0.119	0.36673	B	.;.	.;.	1.917230	0.24347	16.36	0.98285180712437681	0.39898	0.04386	0.09966	N	AEFDB	0.143533	0.26626	N	-0.669252387401244	0.16901	0.8651943	-0.971974518180988	0.10418	0.5245598	0.999999914208048	0.74766	0.661447	0.50134	0	0.644132	0.57912	0	0.659618	0.59808	1	0.604944	0.38103	0	.	.	4.69	-6.87	0.01511	-0.067000	0.11538	.	.	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.587:0.0:0.3076:0.1055	8.393	0.31698	287	0.88635	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	991.98	34	chr16	31357322	.	G	C	991.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.58;DP=843;ExcessHet=0.0000;FS=4.607;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=-1.762e+00;SOR=1.325	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,101,1374	20	0	1	0
chr16	31360327	31360327	C	G	exonic	ITGAX	.	nonsynonymous SNV	ITGAX:NM_000887:exon8:c.C725G:p.A242G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.066	B	0.017	B	.	.	1.000	N	1.59	L	-1.67	D	-0.634	T	0.401	T	0.139	1.112	9.536	2.6	1.320	0.319	9.258	0.101	0.0292488694906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.757e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.21144	T	0.139	0.33666	T	0.066	0.23586	B	0.017	0.18140	B	.	.	.	.	1	0.08975	N	2.015	0.55033	M	-1.67	0.82806	D	-1.69	0.40274	N	0.088	0.09207	-0.6345	0.63380	T	0.401	0.75252	T	9	0.10642916	0.19721	T	0.029249	0.51792	D	0.101	0.28911	0.418	0.45873	0.631602580773	0.62858	0.580785584084518	0.58007	0.215413561457	0.24069	0.279822796583	0.07467	T	0.211377	0.57213	T	-0.102727	0.35974	T	-0.385336	0.35098	T	0.0759893885118709	0.09467	T	0.432057	0.11757	T	0.32753953	0.55269	0.21408725	0.45945	0.32753953	0.55269	0.21408725	0.45944	-5.329	0.40229	T	.	.	0.111	0.23430	B	.;.	.;.	1.367027	0.17764	13.36	0.90572996767062097	0.19827	0.16201	0.19278	N	AEFDBI	0.108268	0.21544	N	-0.724559140907063	0.15332	0.7717987	-0.765275220444868	0.15348	0.8067251	0.999857510691531	0.44174	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.73	2.6	0.30173	0.727000	0.25667	.	.	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.162:0.6806:0.1574:0.0	9.258	0.36757	287	0.88635	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.08824	87.54	43	chr16	31360327	.	C	G	87.54	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-1.288e+00;DP=930;ExcessHet=0.3300;FS=312.897;InbreedingCoeff=-0.1554;MLEAC=4;MLEAF=0.118;MQ=60.00;MQRankSum=0.00;QD=0.78;ReadPosRankSum=-4.310e-01;SOR=9.289	GT:AD:DP:GQ:PL	0/0:34,7:44:29:0,29,674	14	0	3	4
chr16	31361187	31361187	T	A	exonic	ITGAX	.	nonsynonymous SNV	ITGAX:NM_000887:exon9:c.T986A:p.L329Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	1.0	D	.	.	0.996	D	3.785	H	-2.13	D	0.914	D	0.847	D	0.817	4.305	22.6	5.07	2.040	6.017	12.647	0.808	0.0801954331762	.	.	.	.	.	.	.	.	.	.	.	.	.	rs767778307	6.846e-07	6.84e-07	1.362e-06	0	2.245e-05	0	0	.	.	0	2.245e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.99561	0.42773	D	3.89	0.96051	H	-2.13	0.86349	D	-5.64	0.86914	D	0.864	0.86085	0.914	0.95869	D	0.847	0.94891	D	9	0.9698998	0.96560	D	0.080195	0.73405	D	0.808	0.93777	0.854	0.95434	0.915887042927	0.91504	0.9694184572018145	0.96929	0.784066996739	0.65421	0.600350499153	0.52953	T	0.825819	0.95789	D	0.263655	0.79866	D	0.223811	0.84367	D	0.9824352424892	0.74489	D	0.959104	0.84591	D	0.9405396	0.95302	0.877246	0.93369	0.9405396	0.95303	0.877246	0.93370	-15.085	0.96048	D	.	.	0.908	0.83302	P	.;.	.;.	5.076869	0.84710	28.4	0.99608178535918246	0.74634	0.95234	0.63935	D	AEFDBI	0.730370	0.67778	D	0.858466366864706	0.89586	10.03246	0.754053755029323	0.86458	8.89609	0.999999588206404	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.07	5.07	0.68106	6.256000	0.72433	.	.	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	12.647	0.56103	287	0.88635	von Willebrand factor, type A|von Willebrand factor, type A;von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	571.98	35	chr16	31361187	.	T	A	571.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.105;DP=770;ExcessHet=0.0000;FS=3.451;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.67;ReadPosRankSum=-1.510e-01;SOR=0.639	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1001	20	0	1	0
chr16	31362175	31362175	A	C	exonic	ITGAX	.	nonsynonymous SNV	ITGAX:NM_000887:exon11:c.A1187C:p.E396A	.	.	430	1091	1	0	0	1	0.000458085	.	.	3268061	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.87	T	0.022	B	0.02	B	.	.	1.000	N	1.48	L	-0.51	T	-0.944	T	0.202	T	0.283	0.552	6.984	3.24	0.656	-0.113	7.381	0.089	0.0142272058546	0.0002	.	0.0002	0	0.0004	0	0	0.0002	0	0.0001	0.0001294	20	154602	rs138866008	0.0001	0.0001	0.0001	0.0002	0.0031	0.0001	0.0001	0.0020	0.0017	2.987e-05	0.0006	0.0009	2.519e-05	0	0.0031	9.713e-05	0.0003	0.0002	0.0002	0.0002	0.0001	0.0003	0.0010	0.0001	0.0001	0.0007	0.0005	2.415e-05	0	0.0010	0.0003	0	0	0.0068	0.0001	0.0009	0	0.194	0.20912	T	0.59	0.08419	T	0.022	0.18677	B	0.02	0.19048	B	.	.	.	.	1	0.08975	N	1.75	0.45442	L	-0.51	0.70597	T	-2.62	0.56301	D	0.296	0.34228	-0.9441	0.41960	T	0.202	0.55933	T	9	0.03818968	0.02220	T	0.014227	0.34206	T	0.089	0.25827	.	.	0.32714864917	0.32323	0.6247292304776239	0.62405	0.278717992486	0.30353	0.38786906004	0.23370	T	0.429168	0.77806	T	-0.339013	0.05456	T	-0.377573	0.36006	T	0.0287735648453236	0.01803	T	0.578742	0.20864	T	0.19829299	0.41726	0.1609399	0.37461	0.19829299	0.41726	0.1609399	0.37460	-8.635	0.65320	D	.	.	0.127	0.27403	B	.;.	.;.	2.115595	0.26923	17.29	0.89831799660409017	0.19141	0.05001	0.10777	N	AEFDBI	0.060119	0.11404	N	-0.844014493259859	0.12197	0.593108	-0.809759155566785	0.14259	0.7441585	0.476704370456732	0.20752	0.706298	0.61202	0	0.709663	0.81188	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.34	3.24	0.36257	-0.083000	0.11250	.	.	0.688000	0.82842	0.000000	0.06391	0.998000	0.33993	0.999000	0.91618	0.8957:0.0:0.1043:0.0	7.381	0.26031	292	0.88363	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1238.98	39	chr16	31362175	.	A	C	1238.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.602;DP=858;ExcessHet=0.0000;FS=2.357;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.76;ReadPosRankSum=-2.780e-01;SOR=0.919	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1075	20	0	1	0
chr16	31459801	31459801	C	A	exonic	ARMC5	.	nonsynonymous SNV	ARMC5:NM_001105247:exon1:c.C277A:p.P93T	ACTH-independent macronodular adrenal hyperplasia 2, Autosomal dominant, Somatic mutation	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.982	D	0.88	P	.	.	1.000	D	1.39	L	1.0	T	-1.013	T	0.148	T	0.446	3.851	19.56	4.49	2.332	2.029	12.527	0.099	0.0540430712178	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1466072360	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.982	0.60036	D	0.88	0.62516	P	.	.	.	.	0.797933	0.29149	N	0.69	0.16971	N	1.0	0.41392	T	-0.6	0.17834	N	0.408	0.46649	-1.0126	0.26101	T	0.148	0.47416	T	9	0.22276816	0.39037	T	0.054043	0.65705	D	0.099	0.28413	.	.	0.654062484426	0.65118	0.4895303920258219	0.48873	0.616521128411	0.56104	0.753601193428	0.74978	T	0.00958	0.08713	T	-0.104366	0.35702	T	-0.387691	0.34823	T	0.615125610461219	0.37007	D	0.655934	0.32075	T	0.38537815	0.59702	0.46096957	0.68695	0.38537815	0.59703	0.46096957	0.68696	-4.717	0.34463	T	.	.	0.091	0.13032	B	.;.;.;.	.;.;.;.	2.768401	0.36333	20.2	0.98362934249298295	0.40668	0.69304	0.34135	D	ALL	0.189336	0.31659	N	0.318614356103669	0.57103	3.876601	0.32287925553491	0.56888	3.852818	0.99999999999983	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	4.49	4.49	0.54177	-0.114000	0.10729	.	.	0.598000	0.34611	0.000000	0.06391	1.000000	0.68203	0.586000	0.31041	0.0:1.0:0.0:0.0	12.527	0.55442	391	0.83213	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	777.98	43	chr16	31459801	.	C	A	777.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=969;ExcessHet=0.0000;FS=0.971;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=0.123;SOR=0.656	GT:AD:DP:GQ:PL	0/0:59,0:59:99:0,120,1800	20	0	1	0
chr16	31473847	31473847	G	T	exonic	TGFB1I1	.	nonsynonymous SNV	TGFB1I1:NM_001042454:exon4:c.G195T:p.K65N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.773	P	0.399	B	0.000	D	0.998	D	2.015	M	0.06	T	-0.821	T	0.211	T	0.281	3.323	17.18	2.89	0.598	0.960	6.568	0.102	0.0342292202489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.54934	T	0.773	0.44016	P	0.399	0.44455	B	0.000035	0.55875	D	0.120508	0.99753	0.43968	D	2.475	0.71894	M	0.06	0.61798	T	-1.85	0.59710	N	0.451	0.49237	-0.8205	0.53902	T	0.211	0.57134	T	10	0.27658564	0.45221	T	0.034229	0.55532	D	0.102	0.29158	0.315	0.29096	0.53911333632	0.53562	0.6288289913766608	0.62815	0.337990986276	0.35776	0.821242451668	0.85219	D	0.174099	0.52320	T	-0.0310294	0.47268	T	-0.282348	0.46564	T	0.979388773441315	0.72804	D	0.938506	0.76932	D	0.36904564	0.58514	0.3128299	0.57283	0.36904564	0.58514	0.3128299	0.57282	-11.277	0.84097	D	.	.	0.990	0.93663	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.093639	0.41662	21.4	0.99690652180754058	0.79909	0.92372	0.55559	D	AEFBI	0.355437	0.44717	N	0.122593237643475	0.47518	2.976419	0.125060324468897	0.45836	2.839655	0.999858308447154	0.44174	0.722319	0.85440	0	0.588066	0.40923	0	0.493711	0.08198	1	0.735409	0.98432	0	.	.	4.91	2.89	0.32713	1.158000	0.31347	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2306:0.0:0.7694:0.0	6.568	0.21719	334	0.86273	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	35.98	33	chr16	31473847	.	G	T	35.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.408e+00;DP=807;ExcessHet=0.0000;FS=56.331;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.34;ReadPosRankSum=0.918;SOR=6.184	GT:AD:DP:GQ:PL	0/1:84,21:105:50:50,0,2037	20	0	1	0
chr16	31808026	31808026	A	G	exonic	VN1R3	.	unknown	UNKNOWN,	.	.	3	221	2	0	0	2	0.0045045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs943666033	0	6.361e-06	0	0	.	0	0	.	.	0	.	.	0	0	.	0	0	.	7.221e-05	7.217e-05	8.994e-05	5.369e-05	0.0003	3.968e-05	3.125e-05	0.0001	8.279e-05	2.405e-05	0	0.0003	0	0	0	0.0034	4.411e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	875.98	34	chr16	31808026	.	A	G	875.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.047e+00;DP=801;ExcessHet=0.0000;FS=6.883;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.03;ReadPosRankSum=0.630;SOR=1.408	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1360	20	0	1	0
chr16	32253357	32253357	C	T	exonic	TP53TG3D	.	nonsynonymous SNV	TP53TG3D:NM_001243722:exon1:c.C4T:p.R2C,	.	.	955	560	6	1	0	8	0.0070922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019805203702	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs1279462442	0.0003	0.0012	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	0	0.0004	0.0004	0	0.0002	0	0.0004	0.0004	4.237e-05	0.0048	0.0053	0.0050	0.0047	0.0092	0.0043	0.0041	0.0059	0.0056	0.0010	0	0.0050	0.0089	0	0.0085	0	0.0068	0.0015	0.0092	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.34	0.34841	T	-7.9	0.96191	D	0.096	0.08786	.	.	.	.	.	.	.	0.009218931	0.00208	T	0.019805	0.42265	T	.	.	.	.	.	.	0.0012807888312944445	0.00118	3.07987304828	0.99351	0.500791847706	0.38938	T	.	.	.	-0.585598	0.00178	T	-0.595023	0.13233	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	2.163066	0.27562	17.50	0.98037501909506441	0.37758	0.00399	0.01994	N	AEFI	0.045997	0.07588	N	.	.	.	.	.	.	3.09984349074482E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-0.834000	0.04498	-11.975000	0.00560	-0.745000	0.03636	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	721	0.55360	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02632	50.0	3	chr16	32253357	.	C	T	50.0	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.638e+00;DP=94;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1000;MLEAC=1;MLEAF=0.026;MQ=28.61;MQRankSum=0.136;QD=5.00;ReadPosRankSum=0.319;SOR=0.223	GT:AD:DP:GQ:PL	0/0:3,0:3:9:0,9,93	18	0	1	2
chr16	32253604	32253604	C	A	exonic	TP53TG3D	.	nonsynonymous SNV	TP53TG3D:NM_001243722:exon1:c.C251A:p.T84N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00523611580767	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1246807324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.036	0.52060	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.38	0.34050	T	-3.5	0.68178	D	0.09	0.06854	.	.	.	.	.	.	.	0.14317742	0.27187	T	0.005236	0.13341	T	.	.	.	.	0.143184338766	0.13958	0.001598307572914942	0.00147	2.49876639053	0.97613	0.545498967171	0.45222	T	.	.	.	-0.440714	0.01281	T	-0.720539	0.04769	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.553230	0.19905	14.49	0.59800606792481914	0.06310	0.00534	0.02469	N	AEFDBCI	0.036559	0.04890	N	.	.	.	.	.	.	0.00886385683440265	0.11755	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.253	-0.507	0.11386	0.173000	0.16538	-3.375000	0.02835	0.191000	0.17858	0.060000	0.21767	0.000000	0.08366	0.060000	0.15972	.	.	.	721	0.55360	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	965.02	34	chr16	32253604	.	C	A	965.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=852;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.024;MQ=35.45;MQRankSum=-1.177e+00;QD=5.27;ReadPosRankSum=-8.140e-01;SOR=0.713	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr16	32253673	32253673	A	G	exonic	TP53TG3D	.	nonsynonymous SNV	TP53TG3D:NM_001243722:exon1:c.A320G:p.K107R,	.	.	453	1067	2	0	0	2	0.00093633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0038	0.0479	0.0015	0	0	1.714e-05	0.0039	0.0001	0.0004226	11	26028	rs750032411	6.86e-07	6.844e-07	0	1.379e-06	2.531e-05	0	0	.	.	0	0	0	2.531e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.37	0.34253	T	-2.25	0.50337	N	0.089	0.06720	.	.	.	.	.	.	.	0.0050709546	0.00110	T	.	.	.	.	.	.	.	0.110392049598	0.10638	4.722776269191555E-4	0.00043	1.9337450126	0.93168	0.541570663452	0.44667	T	.	.	.	-0.659692	0.00063	T	-0.693218	0.06204	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.815798	0.23073	15.88	0.88415351824641508	0.17958	0.01103	0.04044	N	AEFDBCI	0.042937	0.06725	N	.	.	.	.	.	.	0.197150825605327	0.18074	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.195000	0.16960	-1.221000	0.05986	0.233000	0.18164	0.016000	0.19238	0.000000	0.08366	0.018000	0.11154	.	.	.	721	0.55360	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1164.06	34	chr16	32253673	.	A	G	1164.06	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.295e+00;DP=1169;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0294;MLEAC=1;MLEAF=0.024;MQ=46.85;MQRankSum=-1.300e+00;QD=3.31;ReadPosRankSum=-1.142e+00;SOR=0.699	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr16	46595649	46595649	G	A	exonic	SHCBP1	.	nonsynonymous SNV	SHCBP1:NM_001324319:exon9:c.C1133T:p.T378M	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.808	P	0.34	B	0.009	N	1.000	N	1.67	L	-1.53	D	-0.505	T	0.362	T	0.433	1.385	10.56	4.03	2.085	1.332	6.478	0.329	0.0310935631243	.	.	5.781e-05	0	0	0.0002	0	4.507e-05	0	0.0001	4.53e-05	7	154602	rs773704460	2.6e-05	2.599e-05	1.77e-05	3.438e-05	0.0002	1.933e-05	1.692e-05	2.375e-05	1.43e-05	8.962e-05	0	0	0	0	0.0002	1.529e-05	0.0002	5.8e-05	0.0001	0.0001	0.0002	4.035e-05	0.0008	7.091e-05	5.747e-05	0.0005	0.0004	7.237e-05	0	0.0008	0	0	0	0	1.47e-05	0.0005	0	0.01	0.56456	D	0.04	0.50809	D	0.808	0.45299	P	0.34	0.42389	B	0.009222	0.30456	N	0.376195	0.999998	0.08975	N	1.955	0.52871	M	-1.53	0.81559	D	-2.66	0.56945	D	0.645	0.65673	-0.5052	0.68461	T	0.362	0.72322	T	10	0.5437985	0.63868	D	0.031094	0.53261	D	0.329	0.65126	0.482	0.56302	0.944421479554	0.94383	0.7041827561695405	0.70360	0.309715011128	0.33285	0.569725751877	0.48639	T	0.18153	0.53324	T	-0.103883	0.35782	T	-0.183398	0.56207	T	0.0791323618660946	0.09875	T	0.89721	0.64041	D	0.06994099	0.15364	0.09965288	0.23801	0.06994099	0.15364	0.09965288	0.23800	-5.123	0.38148	T	.	.	0.082	0.08851	B	.	.	2.929142	0.38908	20.8	0.9847039825255326	0.41849	0.20610	0.21104	N	AEFBI	0.092978	0.18818	N	-0.133254279256919	0.35950	2.071532	-0.228897339132752	0.30505	1.718182	0.466271622622559	0.20668	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.03	4.03	0.46115	1.593000	0.36297	7.007000	0.57217	0.585000	0.30472	0.241000	0.24758	1.000000	0.68203	0.583000	0.30967	0.093:0.0:0.7257:0.1813	6.478	0.21244	376	0.83959	Right handed beta helix domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1685.98	36	chr16	46595649	.	G	A	1685.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.454;DP=813;ExcessHet=0.0000;FS=3.475;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.29;ReadPosRankSum=1.69;SOR=0.440	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1276	20	0	1	0
chr16	46689713	46689713	C	T	exonic	ORC6	.	nonsynonymous SNV	ORC6:NM_014321:exon1:c.C8T:p.S3L,	Meier-Gorlin syndrome 3, Autosomal recessive	.	0	1513	9	0	0	9	0.0029654	.	.	1503553	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.3	T	0.004	B	0.001	B	0.564	N	1.000	N	1.79	L	-0.12	T	-0.949	T	0.179	T	0.101	2.353	13.83	2.82	0.859	0.384	5.805	0.036	0.0472523528206	.	.	.	.	.	.	.	.	.	.	.	.	.	rs767096909	6.901e-07	2.736e-06	1.371e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.673e-05	0	6.574e-06	6.568e-06	1.285e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.102	0.46513	T	0.185	0.41074	T	0.004	0.12183	B	0.001	0.04355	B	0.564146	0.11306	N	0.807991	1	0.08975	N	2.52	0.73523	M	-0.12	0.64630	T	-0.97	0.25986	N	0.288	0.32921	-0.9491	0.41126	T	0.179	0.52536	T	10	0.10052675	0.18311	T	0.047252	0.62838	D	0.036	0.09122	0.273	0.22369	0.678036545427	0.67530	0.3146030142646159	0.31373	0.0765249257685	0.08586	0.443620026112	0.31071	T	0.037913	0.24652	T	-0.181808	0.23467	T	-0.498931	0.22459	T	0.123152685045755	0.14735	T	0.668933	0.27772	T	0.09400845	0.22094	0.16870716	0.38851	0.09400845	0.22093	0.16870716	0.38850	-3.566	0.17367	T	.	.	0.158	0.34992	B	.;.	.;.	2.359085	0.30252	18.38	0.85956578484072244	0.16220	0.10496	0.15987	N	ALL	0.078037	0.15734	N	-0.724574245447729	0.15332	0.7717735	-0.740431293599564	0.15957	0.8418476	0.999999999999926	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.97	2.82	0.32061	0.386000	0.20429	1.665000	0.27922	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.040000	0.14268	0.0:0.6726:0.1586:0.1688	5.805	0.17698	294	0.88270	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1120.98	38	chr16	46689713	.	C	T	1120.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.78;DP=863;ExcessHet=0.0000;FS=1.535;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.75;ReadPosRankSum=-3.730e-01;SOR=0.913	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1131	20	0	1	0
chr16	47515581	47515581	A	G	exonic	PHKB	.	nonsynonymous SNV	PHKB:NM_000293:exon6:c.A574G:p.I192V	Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, Autosomal recessive	.	10	1508	4	0	0	4	0.0013245	.	.	505400	not_provided|not_specified|Glycogen_storage_disease_IXb|PHKB-related_disorder	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009868,MedGen:C0543514,OMIM:261750,Orphanet:79240|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.2	T	0.998	D	0.994	D	0.000	D	1.000	D	1.15	L	-2.62	D	0.536	D	0.759	D	0.622	3.566	18.18	5.73	2.308	7.318	15.293	0.625	0.0704533838077	0.0014	0.000399361	0.0018	9.664e-05	0.0017	0	0.0018	0.0026	0.0055	0.0002	0.0017852	276	154602	rs117218785	0.0014	0.0016	0.0014	0.0014	0.0059	0.0014	0.0013	0.0043	0.0037	0.0002	0.0011	0.0036	0	0.0012	0.0059	0.0016	0.0012	0.0003	0.0016	0.0016	0.0016	0.0016	0.0027	0.0015	0.0014	0.0024	0.0023	0.0003	0	0.0004	0.0026	0	0.0029	0	0.0027	0.0009	0.0010	0.264	0.16358	T	0.136	0.34009	T	0.997	0.70673	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.06	0.56677	M	-2.62	0.90017	D	-0.6	0.18042	N	0.193	0.24634	0.536	0.91043	D	0.759	0.91777	D	10	0.01855874	0.00405	T	0.070453	0.71006	D	0.625	0.85511	.	.	0.851771965924	0.85034	0.5208675652560436	0.52009	0.179260557738	0.20168	0.719315469265	0.69947	T	0.233468	0.60028	T	-0.151202	0.28125	T	0.0088769	0.70909	D	0.0477018501223997	0.05090	T	0.940306	0.77472	D	0.10781246	0.25493	0.12019581	0.29007	0.1295378	0.30251	0.115914114	0.27982	-6.91	0.53373	T	.	.	0.164	0.36113	B	.;.;.;.	.;.;.;.	3.206373	0.43630	21.8	0.99802853209053022	0.88728	0.96908	0.71597	D	AEFBI	0.816592	0.73829	D	0.558075002781019	0.70576	5.521715	0.619875092574448	0.76385	6.48114	0.999929104097675	0.46280	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.73	5.73	0.89730	5.994000	0.70296	6.820000	0.56668	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.293	0.73585	166	0.93555	GH15-like domain;.;.;GH15-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2029.98	33	chr16	47515581	.	A	G	2029.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.000e-01;DP=813;ExcessHet=0.0000;FS=1.483;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.35;ReadPosRankSum=-3.610e-01;SOR=0.894	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1251	20	0	1	0
chr16	47641059	47641059	G	C	exonic	PHKB	.	nonsynonymous SNV	PHKB:NM_000293:exon15:c.G1483C:p.V495L	Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.179	B	0.192	B	0.000	D	1.000	D	2.245	M	-3.39	D	0.517	D	0.774	D	0.611	2.766	15.21	4.92	1.481	3.616	10.748	0.624	0.0799884558406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.37750	T	0.064	0.44905	T	0.128	0.28995	B	0.119	0.36449	B	0.000139	0.49741	D	0.182769	0.999996	0.58761	D	2.255	0.64187	M	-3.39	0.94210	D	-1.77	0.41809	N	0.666	0.71854	0.517	0.90786	D	0.774	0.92311	D	10	0.7715538	0.77123	D	0.079988	0.73359	D	0.624	0.85459	0.639	0.77579	0.924797728156	0.92402	0.610654613559572	0.60997	0.236161927516	0.26150	0.584076762199	0.50660	T	0.496819	0.81895	T	0.197675	0.73673	D	0.0461701	0.73331	D	0.909685373306274	0.56466	D	0.953105	0.82105	D	0.123387344	0.28974	0.13238269	0.31769	0.123387344	0.28974	0.13238269	0.31768	-8.772	0.66217	D	.	.	0.401	0.62587	A	.;.;.	.;.;.	2.270213	0.29014	17.99	0.99456583358511597	0.65581	0.93421	0.58172	D	AEFBI	0.414426	0.48369	N	0.144348817968195	0.48546	3.065441	0.254838226302525	0.52925	3.464202	0.932824628998896	0.27104	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.87	4.92	0.64147	3.851000	0.55634	5.158000	0.47781	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.146:0.0:0.854:0.0	10.748	0.45391	166	0.93555	.;.;GH15-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1717.98	33	chr16	47641059	.	G	C	1717.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.109e+00;DP=842;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-1.420e+00;SOR=0.703	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1120	20	0	1	0
chr16	48096861	48096861	A	-	exonic	ABCC12	.	frameshift deletion	ABCC12:NM_033226:exon22:c.3080delT:p.L1027Rfs*7,	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0007	0	8.663e-05	0.0086	0	0.0001	0.0011	0.0001	0.000608	94	154602	rs544586060	0.0003	0.0003	0.0003	0.0003	0.0097	0.0003	0.0003	0.0089	0.0086	0	2.236e-05	0.0008	0.0097	1.872e-05	0	4.496e-05	0.0003	0.0001	0.0003	0.0003	0.0003	0.0004	0.0081	0.0002	0.0002	0.0062	0.0055	0	0	0	0.0012	0.0081	0	0	1.47e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2578.94	34	chr16	48096860	.	CA	C	2578.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.314e+00;DP=810;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.23;ReadPosRankSum=-6.710e-01;SOR=0.720	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1318	20	0	1	0
chr16	48170191	48170191	T	C	exonic	ABCC11	.	nonsynonymous SNV	ABCC11:NM_033151:exon27:c.A3805G:p.T1269A	.	.	.	.	.	.	.	.	.	.	.	3279141	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.83	T	0.008	B	0.029	B	0.025	N	0.992	N	1.085	L	-3.37	D	-0.570	T	0.576	D	0.054	-1.209	0.068	2.21	0.215	0.837	6.625	0.178	0.0197361613049	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1247193490	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.008	0.14655	B	0.029	0.21540	B	0.024501	0.26249	N	0.374024	1	0.23922	N	1.445	0.36358	L	-3.37	0.94114	D	2.3	0.00290	N	0.103	0.08646	-0.5703	0.66003	T	0.576	0.84712	D	10	0.09814018	0.17723	T	0.019736	0.42178	T	0.178	0.44724	0.556	0.67409	0.71323274049	0.71072	0.34169450871462737	0.34082	0.088826841913	0.10042	0.332726657391	0.15345	T	0.188531	0.54248	T	-0.105752	0.35473	T	-0.389682	0.34590	T	0.0524002272216743	0.05917	T	0.457154	0.13128	T	0.027298665	0.01902	0.03135987	0.01713	0.027298665	0.01901	0.03135987	0.01713	-1.9	0.02825	T	.	.	0.053	0.00405	B	.;.;.	.;.;.	-0.230185	0.02942	0.431	0.47566251666528908	0.03899	0.00750	0.03119	N	AEFBI	0.023806	0.01380	N	-1.0990412911073	0.06662	0.3072838	-1.07339913939493	0.08226	0.4035499	0.0238500875783338	0.13537	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.24	2.21	0.27042	1.423000	0.34445	0.184000	0.15665	-0.218000	0.08083	0.736000	0.28985	0.004000	0.18990	0.001000	0.02609	0.0:0.6906:0.0:0.3094	6.625	0.22018	497	0.76227	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2190.98	37	chr16	48170191	.	T	C	2190.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.03;DP=993;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=1.11;SOR=0.684	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr16	48187226	48187226	T	C	exonic	ABCC11	.	nonsynonymous SNV	ABCC11:NM_033151:exon20:c.A2908G:p.M970V	.	.	1	1448	68	5	0	78	0.0262273	.	.	714930	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.52	T	0.001	B	0.004	B	0.347	N	1.000	N	-0.435	N	-2.42	D	-0.722	T	0.202	T	0.085	-1.625	0.013	-9.56	-2.438	-2.067	0.739	0.190	.	0.0059	0.00359425	0.0074	0.0011	0.0036	0	0.0103	0.0083	0.0077	0.0132	0.0072379	1119	154602	rs41280943	0.0079	0.0079	0.0076	0.0082	0.0154	0.0078	0.0078	0.0137	0.0134	0.0017	0.0041	0.0114	7.557e-05	0.0102	0.0154	0.0078	0.0085	0.0143	0.0062	0.0062	0.0060	0.0064	0.0131	0.0059	0.0057	0.0105	0.0096	0.0013	0.0099	0.0041	0.0115	0	0.0106	0.0068	0.0085	0.0090	0.0131	0.647	0.04897	T	0.592	0.08161	T	0.001	0.07471	B	0.001	0.10090	B	0.346545	0.04219	N	1.481950	1	0.08975	N	0	0.06538	N	-2.42	0.88611	D	0.3	0.04091	N	0.049	0.02366	-0.7224	0.59344	T	0.202	0.55877	T	10	0.004173249	0.00083	T	.	.	.	0.190	0.46781	.	.	0.303453137403	0.29957	0.2925052274158271	0.29163	0.091301167316	0.10314	0.224543467164	0.01588	T	0.111656	0.42731	T	-0.527803	0.00396	T	-0.519253	0.20370	T	0.00280513066348541	0.00029	T	0.331767	0.06954	T	0.031401824	0.02972	0.03592514	0.02939	0.031401824	0.02972	0.03592514	0.02939	-1.788	0.02634	T	.	.	0.055	0.01348	B	.;.;.;.	.;.;.;.	-1.945516	0.00114	0.002	0.23319595417187619	0.00980	0.00326	0.01707	N	AEFBI	0.031554	0.03400	N	-1.86810917791206	0.00399	0.01715328	-1.94889643834209	0.00391	0.01726979	0.999999999253371	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.78	-9.56	0.00476	-2.171000	0.01353	-5.456000	0.01711	-0.139000	0.12461	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1854:0.2407:0.2009:0.373	0.739	0.00908	528	0.73785	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1585.98	34	chr16	48187226	.	T	C	1585.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.290e-01;DP=865;ExcessHet=0.0000;FS=1.982;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.73;ReadPosRankSum=-1.288e+00;SOR=0.867	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1179	20	0	1	0
chr16	48200470	48200470	G	A	exonic	ABCC11	.	nonsynonymous SNV	ABCC11:NM_033151:exon14:c.C1888T:p.R630W	.	.	0	1518	4	0	0	4	0.00131579	.	.	726652	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	N	1.000	D	3.22	M	-1.53	D	0.018	D	0.568	D	0.747	3.969	20.3	1.19	0.316	0.691	4.138	0.594	0.0613049088917	0.0056	0.00259585	0.0040	0.0029	0.0036	0	0.0021	0.0054	0.0058	0.0020	0.0040038	619	154602	rs41282045	0.0054	0.0054	0.0055	0.0053	0.0062	0.0053	0.0053	0.0061	0.0061	0.0027	0.0053	0.0006	7.56e-05	0.0019	0.0012	0.0062	0.0055	0.0021	0.0047	0.0047	0.0048	0.0046	0.0080	0.0044	0.0043	0.0068	0.0064	0.0031	0	0.0080	0.0012	0	0.0015	0.0068	0.0062	0.0066	0.0012	0.0	0.91255	D	0.0	0.92824	D	0.333	0.90584	B	0.061	0.97372	B	0.000016	0.62929	N	0.067924	1	0.81001	D	3.045	0.86684	M	-1.53	0.81559	D	-7.7	0.95634	D	0.442	0.49146	0.018	0.82625	D	0.568	0.84354	D	10	0.02933821	0.01061	T	0.061305	0.68287	D	0.594	0.83857	.	.	0.87763515594	0.87644	0.6762308199441927	0.67562	0.239766953823	0.26521	0.326112896204	0.14347	T	0.717009	0.91972	D	-0.115197	0.33911	T	0.0650577	0.74580	D	0.112282171109764	0.13659	T	0.910809	0.68393	D	0.85933286	0.88035	0.79345155	0.87860	0.85933286	0.88036	0.79345155	0.87860	-8.484	0.64323	D	.	.	0.133	0.28693	B	.;.;.;.	.;.;.;.	3.278626	0.44915	22.0	0.99918377060229635	0.98586	0.86330	0.45589	D	AEFI	0.667907	0.63587	D	0.216599410273947	0.52004	3.37741	0.146981402743337	0.46981	2.93546	0.0446572718013259	0.14621	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.61	1.19	0.20120	0.958000	0.28825	0.158000	0.15372	0.662000	0.56354	0.978000	0.35038	0.000000	0.08366	0.743000	0.35541	0.1727:0.0:0.5052:0.3221	4.138	0.09645	530	0.73653	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	779.98	34	chr16	48200470	.	G	A	779.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.910e-01;DP=758;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=-9.570e-01;SOR=0.679	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1396	20	0	1	0
chr16	49396590	49396590	C	T	exonic	C16orf78	.	nonsynonymous SNV	C16orf78:NM_144602:exon4:c.C562T:p.R188C,	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.000	D	1.000	D	2.075	M	0.15	T	-0.413	T	0.357	T	0.714	3.439	17.64	5.29	2.618	2.107	14.790	0.350	0.0466501052965	0.0020	0.000998403	0.0017	0.0003	0.0018	0.0006	0.0008	0.0019	0.0011	0.0028	0.0017529	271	154602	rs140378939	0.0020	0.0020	0.0019	0.0020	0.0026	0.0019	0.0019	0.0022	0.0021	0.0002	0.0016	0.0013	0.0002	0.0002	0.0026	0.0022	0.0014	0.0025	0.0013	0.0013	0.0013	0.0012	0.0025	0.0011	0.0011	0.0018	0.0017	0.0004	0	0.0008	0.0003	0.0006	0.0002	0	0.0021	0	0.0025	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000290	0.46274	D	0.000000	0.999962	0.52935	D	1.845	0.48678	L	0.15	0.60734	T	-5.64	0.86914	D	0.591	0.61087	-0.4135	0.71598	T	0.357	0.71967	T	9	0.020991147	0.00494	T	0.04665	0.62555	D	0.350	0.67142	.	.	0.439870908748	0.43606	0.048175044610577596	0.04760	0.176924702148	0.19905	.	.	.	0.076117	0.35342	T	-0.224413	0.17394	T	-0.0981806	0.63538	T	0.067068022311366	0.08234	T	0.756024	0.37907	T	0.40708116	0.61220	0.36321768	0.61712	0.40708116	0.61221	0.36321768	0.61712	-6.489	0.50201	T	.	.	0.208	0.43462	B	.	.	4.587975	0.72538	25.8	0.99921655047161007	0.98787	0.87857	0.47543	D	AEFBI	0.197126	0.32407	N	0.550022640138323	0.70085	5.449769	0.5032254931692	0.68208	5.188287	0.999996444578621	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	2.150000	0.41878	3.858000	0.40123	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.732000	0.35165	0.0:1.0:0.0:0.0	14.790	0.69455	894	0.26265	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1352.98	34	chr16	49396590	.	C	T	1352.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.60;DP=811;ExcessHet=0.0000;FS=1.485;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.00;ReadPosRankSum=0.198;SOR=0.904	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1155	20	0	1	0
chr16	49638044	49638044	C	T	exonic	ZNF423	.	nonsynonymous SNV	ZNF423:NM_001330533:exon2:c.G757A:p.A253T	Joubert syndrome 19, Autosomal recessive, Autosomal dominant;Nephronophthisis 14, Autosomal recessive, Autosomal dominant	.	8	1512	2	0	0	2	0.000660939	.	.	194986	not_provided|Nephronophthisis_14	MedGen:C3661900|MONDO:MONDO:0013916,MedGen:C3539071,OMIM:614844,Orphanet:2318	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.366	B	0.023	B	0.000	D	0.998	D	1.405	L	3.12	T	-1.012	T	0.021	T	0.391	0.873	8.542	5.0	2.331	3.902	18.307	0.146	0.0147381178976	0.0002	.	0.0002	0	0.0005	0.0001	0	0.0002	0.0011	0.0002	0.000194	30	154602	rs199760788	0.0002	0.0002	0.0002	0.0002	0.0008	0.0001	0.0001	0.0006	0.0005	5.974e-05	0.0008	3.828e-05	0.0001	3.754e-05	0.0007	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0005	7.581e-05	6.285e-05	0.0003	0.0002	0	0	0.0005	0	0	0	0	0.0001	0.0005	0.0002	0.717	0.03961	T	0.578	0.08565	T	0.366	0.34016	B	0.023	0.19966	B	0.000000	0.84330	D	0.000000	0.99809	0.44502	D	1.335	0.33326	L	3.08	0.08460	T	-0.58	0.21860	N	0.506	0.53796	-1.0119	0.26322	T	0.021	0.09009	T	9	0.07125342	0.10477	T	0.014738	0.35052	T	0.146	0.38789	.	.	0.043077524339	0.03247	0.3161345323203838	0.31526	0.415926434887	0.42235	0.73397731781	0.72088	T	0.072659	0.34509	T	-0.414979	0.01843	T	-0.471954	0.25307	T	0.0220488951132194	0.00915	T	0.888211	0.61727	D	0.12816192	0.29971	0.1585076	0.37011	0.12816192	0.29971	0.1585076	0.37011	-3.909	0.22828	T	0.04308717143489935	0.00470	0.119	0.46308	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.573064	0.50333	22.9	0.98466967463542276	0.41814	0.86718	0.46059	D	AEFBCI	0.513510	0.54127	D	0.0509508665157068	0.44186	2.697298	0.180211457747416	0.48762	3.087969	0.999999995872546	0.74766	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.528226	0.09195	0	.	.	5.0	5.0	0.66209	3.973000	0.56552	4.088000	0.41786	0.599000	0.40250	0.999000	0.42656	0.999000	0.35428	0.951000	0.49849	0.0:1.0:0.0:0.0	18.307	0.90126	862	0.33134	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2119.98	83	chr16	49638044	.	C	T	2119.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.491e+00;DP=1831;ExcessHet=0.0000;FS=0.658;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.70;ReadPosRankSum=0.907;SOR=0.602	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr16	49822678	49822678	T	G	exonic	ZNF423	.	nonsynonymous SNV	ZNF423:NM_015069:exon1:c.A8C:p.K3T,	Joubert syndrome 19, Autosomal recessive, Autosomal dominant;Nephronophthisis 14, Autosomal recessive, Autosomal dominant	.	14	1504	2	2	0	6	0.00199071	.	.	1049666	Nephronophthisis_14	MONDO:MONDO:0013916,MedGen:C3539071,OMIM:614844,Orphanet:2318	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.013	U	1.000	N	0	N	3.03	T	-0.982	T	0.013	T	0.218	-0.270	2.705	0.955	0.220	-0.709	4.978	0.032	0.00358090673679	.	.	4.133e-05	0	0.0003	0	0	1.501e-05	0	0	3.23e-05	5	154602	rs764916396	4.315e-05	4.309e-05	3.816e-05	4.819e-05	0.0005	3.447e-05	3.133e-05	0.0001	7.55e-05	0	0.0001	0	0	0	0.0005	3.69e-05	9.947e-05	8.163e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	0.013397	0.01363	U	4.046690	1	0.08975	N	0	0.06538	N	3.03	0.08898	T	0.17	0.05125	N	0.179	0.21188	-0.9815	0.34655	T	0.013	0.05081	T	9	0.04671672	0.03897	T	0.003581	0.08185	T	0.032	0.07718	0.437	0.48993	0.043077524339	0.03247	0.04602069020810319	0.04546	0.450419126629	0.44807	0.382351279259	0.22589	T	0.062335	0.31891	T	-0.484362	0.00698	T	-0.648816	0.09037	T	0.0346768452690301	0.02752	T	0.385361	0.09439	T	0.090220764	0.21104	0.067002654	0.13802	0.090220764	0.21103	0.067002654	0.13801	-2.959	0.09746	T	.	.	0.170	0.39081	B	.;.	.;.	0.182309	0.05697	2.143	0.39270299962615796	0.02699	0.05061	0.10852	N	AEFBI	0.047036	0.07877	N	-1.17000523668472	0.05458	0.2488973	-1.21632044500123	0.05647	0.2696501	0.989796462686258	0.31938	0.516011	0.20929	0	0.59043	0.45803	0	0.527494	0.11647	0	0.586402	0.36253	0	.	.	2.16	0.955	0.18725	-0.017000	0.12529	-1.362000	0.05620	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.3166:0.6834	4.978	0.13498	892	0.26670	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1063.98	33	chr16	49822678	.	T	G	1063.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.340e-01;DP=780;ExcessHet=0.0000;FS=2.866;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=-7.400e-02;SOR=0.732	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr16	50084214	50084214	G	A	exonic	HEATR3	.	nonsynonymous SNV	HEATR3:NM_001329731:exon8:c.G520A:p.G174R	.	.	437	1043	41	1	0	43	0.0201973	.	.	3416369	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.12	T	0.976	D	0.487	P	0.019	N	1.000	N	1.59	L	1.52	T	-1.071	T	0.049	T	0.169	0.983	9.012	1.33	0.413	1.704	7.369	0.087	.	0.0081	0.00299521	0.0070	0.0018	0.0049	0.0001	0.0070	0.0104	0.0110	0.0010	0.0068951	1066	154602	rs34805615	0.0078	0.0078	0.0077	0.0078	0.0420	0.0076	0.0076	0.0376	0.0359	0.0026	0.0074	0.0462	5.038e-05	0.0071	0.0420	0.0075	0.0101	0.0009	0.0069	0.0069	0.0071	0.0066	0.0098	0.0065	0.0064	0.0085	0.0080	0.0012	0.0154	0.0098	0.0435	0	0.0061	0.0476	0.0084	0.0118	0.0004	0.106	0.29688	T	0.019	0.59159	D	0.96	0.55278	D	0.293	0.40773	B	0.019339	0.27282	N	0.456099	0.99998	0.18612	N	2.015	0.55033	M	1.52	0.30669	T	-0.88	0.23808	N	0.352	0.39356	-1.0712	0.09151	T	0.049	0.20789	T	10	0.005854368	0.00131	T	.	.	.	0.087	0.25287	0.311	0.28451	0.40318662893	0.39936	0.18213983312205353	0.18132	0.335886373726	0.35593	0.361995697021	0.19676	T	0.006848	0.06276	T	-0.547466	0.00302	T	-0.548143	0.17505	T	0.00630700459818107	0.00070	T	0.80032	0.44603	T	0.032337006	0.03238	0.046086553	0.06345	0.032337006	0.03238	0.046086553	0.06345	-4.379	0.29271	T	.	.	0.123	0.25850	B	.	.	1.351276	0.17589	13.25	0.95033727908892129	0.26031	0.32651	0.24637	N	AEFDBIJ	0.064541	0.12537	N	-0.371558865280541	0.26488	1.445955	-0.465156096169464	0.23120	1.259213	0.998687191155352	0.37455	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.04	1.33	0.20958	1.741000	0.37862	0.134000	0.15084	-0.106000	0.15538	0.598000	0.27730	0.000000	0.08366	0.033000	0.13494	0.2765:0.0:0.5948:0.1287	7.369	0.25963	568	0.70638	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1355.98	49	chr16	50084214	.	G	A	1355.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=1039;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.35;ReadPosRankSum=0.136;SOR=0.695	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	20	0	1	0
chr16	50104942	50104942	C	A	exonic	HEATR3	.	nonsynonymous SNV	HEATR3:NM_001329731:exon14:c.C1231A:p.R411S	.	.	430	1086	5	1	0	7	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.99	D	0.839	P	0.000	D	1.000	D	2.075	M	0.51	T	-0.541	T	0.276	T	0.918	3.953	20.2	4.91	1.442	2.909	14.673	0.379	0.037376444487	.	0.000599042	0.0016	0.0005	0.0041	0	0	0.0020	0.0022	0.0002	0.0014101	218	154602	rs141326733	0.0012	0.0012	0.0012	0.0012	0.0094	0.0012	0.0011	0.0073	0.0066	0.0009	0.0028	0.0131	0	7.545e-05	0.0094	0.0009	0.0028	0.0006	0.0010	0.0010	0.0011	0.0009	0.0020	0.0009	0.0008	0.0014	0.0012	0.0003	0.0033	0.0020	0.0138	0	0	0.0068	0.0009	0.0019	0.0002	0.007	0.59928	D	0.008	0.67890	D	0.989	0.62824	D	0.628	0.51677	P	0.000003	0.62929	D	0.063337	0.999997	0.58761	D	2.515	0.73286	M	0.51	0.55439	T	-3.74	0.71042	D	0.805	0.80083	-0.5413	0.67114	T	0.276	0.64794	T	10	0.02362606	0.00624	T	0.037376	0.57578	D	0.379	0.69696	.	.	0.784680639128	0.78268	0.5182827558583151	0.51751	0.458982957277	0.45497	0.462295114994	0.33625	T	0.209527	0.56977	T	-0.055587	0.43593	T	0.14245	0.79703	D	0.039831722697667	0.03660	T	0.90351	0.66162	D	0.5611216	0.70572	0.4589754	0.68568	0.5611216	0.70573	0.4589754	0.68569	-7.734	0.59244	D	.	.	0.825	0.78481	P	.	.	3.749657	0.53743	23.4	0.99685069755893041	0.79507	0.94391	0.61016	D	AEFBI	0.463643	0.51247	N	0.48137126087024	0.66002	4.894179	0.468544706869694	0.65915	4.884658	0.997566039799412	0.35763	0.706548	0.73137	0	0.708844	0.79440	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.88	4.91	0.63897	2.988000	0.49074	1.681000	0.28012	0.596000	0.33519	0.992000	0.37556	0.999000	0.35428	0.966000	0.53164	0.2642:0.7358:0.0:0.0	14.673	0.68567	562	0.71143	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2117.11	33	chr16	50104942	.	C	A	2117.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.01;DP=776;ExcessHet=0.1072;FS=0.693;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=17.50;ReadPosRankSum=0.547;SOR=0.798	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1059	19	0	2	0
chr16	50291884	50291884	G	A	exonic	ADCY7	.	nonsynonymous SNV	ADCY7:NM_001114:exon4:c.G524A:p.R175Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.002	B	0.001	B	0.181	N	1.000	N	-0.69	N	-0.95	T	-0.874	T	0.174	T	0.058	-0.471	1.826	-6.47	-1.921	-2.055	7.325	0.160	0.067809853701	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1196552682	8.91e-06	9.577e-06	8.182e-06	9.646e-06	0.0002	4.97e-06	3.83e-06	0.0001	8.776e-05	0	0	0	0.0002	0	0.0002	2.702e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.614	0.05404	T	0.677	0.12386	T	0.0	0.09854	B	0.0	0.04355	B	0.180657	0.03179	N	2.312940	1	0.08975	N	-1.085	0.01025	N	-1.45	0.80899	T	-0.27	0.11913	N	0.046	0.06454	-0.8739	0.50234	T	0.174	0.51690	T	10	0.057694077	0.06667	T	0.06781	0.70273	D	0.160	0.41473	0.521	0.62368	0.524533156562	0.52098	0.289646291806072	0.28877	0.526799517642	0.50302	0.183118969202	0.00126	T	0.257815	0.62890	T	-0.365423	0.03833	T	-0.593553	0.13359	T	0.0149818284787604	0.00321	T	0.243176	0.03527	T	0.022561023	0.00928	0.026002305	0.00668	0.022561023	0.00927	0.026002305	0.00668	-3.98	0.23503	T	.	.	0.068	0.02797	B	.;.;.;.	.;.;.;.	0.332924	0.07066	3.636	0.55642646504486737	0.05385	0.01893	0.05812	N	AEFDGBHCI	0.029522	0.02802	N	-1.9508008148389	0.00269	0.01155544	-2.01087352928381	0.00291	0.01282719	0.999999999996492	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	3.24	-6.47	0.01731	-1.625000	0.02139	-7.216000	0.01205	-0.707000	0.03972	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3077:0.2417:0.4506:0.0	7.325	0.25722	768	0.49510	Adenylate cyclase, N-terminal;Adenylate cyclase, N-terminal;Adenylate cyclase, N-terminal;Adenylate cyclase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	711.98	34	chr16	50291884	.	G	A	711.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.90;DP=758;ExcessHet=0.0000;FS=1.130;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=-1.109e+00;SOR=0.960	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1255	20	0	1	0
chr16	50307110	50307110	G	A	exonic	ADCY7	.	nonsynonymous SNV	ADCY7:NM_001114:exon15:c.G1813A:p.V605I	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.001	B	0.002	B	0.992	N	0.908	D	1.01	L	0.92	T	-1.085	T	0.228	T	0.096	0.039	4.217	-9.52	-2.314	-2.805	5.018	0.082	0.1290419034	0.0002	0.000199681	0.0001	0.0006	0.0005	0	0	1.518e-05	0	6.098e-05	9.7e-05	15	154602	rs138958361	6.233e-05	6.225e-05	6.135e-05	6.333e-05	0.0005	5.168e-05	4.787e-05	0.0004	0.0003	0.0003	0.0005	3.826e-05	2.519e-05	0	0	3.507e-05	0.0001	9.275e-05	0.0002	0.0002	0.0002	0.0002	0.0014	0.0001	0.0001	0.0009	0.0008	0.0001	0	0.0014	0	0.0002	0	0	1.47e-05	0	0.0002	0.276	0.15717	T	0.485	0.11725	T	0.001	0.07471	B	0.002	0.06944	B	0.992238	0.07910	N	1.005240	0.907632	0.36328	D	0.675	0.16386	N	-1.47	0.81067	T	0.1	0.05810	N	0.027	0.05929	-1.0847	0.06462	T	0.228	0.59283	T	10	0.019833535	0.00448	T	0.129042	0.81105	D	0.082	0.23913	.	.	0.465381546717	0.46164	0.13938658249002503	0.13861	0.368983407752	0.38434	0.319498479366	0.13345	T	0.285662	0.65845	T	-0.429999	0.01482	T	-0.501406	0.22201	T	0.0309106249787364	0.02132	T	0.642936	0.25461	T	0.031338852	0.02956	0.029422656	0.01278	0.031338852	0.02955	0.029422656	0.01278	-4.616	0.32372	T	.	.	0.07	0.04932	B	.;.;.	.;.;.	-1.850269	0.00141	0.002	0.78105505012955945	0.12157	0.05353	0.11211	N	AEFDBCI	0.035479	0.04574	N	-2.08822755226594	0.00136	0.005819737	-2.19976531674902	0.00112	0.00492955	0.999999985264479	0.74766	0.700653	0.57754	0	0.702456	0.74545	0	0.717052	0.78885	0	0.655142	0.61905	0	.	.	4.76	-9.52	0.00487	-2.367000	0.01157	-6.625000	0.01348	-1.907000	0.00518	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3274:0.4509:0.0985:0.1232	5.018	0.13687	749	0.51929	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1208.98	33	chr16	50307110	.	G	A	1208.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.680e-01;DP=847;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.09;ReadPosRankSum=0.096;SOR=0.705	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1231	20	0	1	0
chr16	50311764	50311764	C	A	exonic	ADCY7	.	nonsynonymous SNV	ADCY7:NM_001114:exon20:c.C2426A:p.T809N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.997	D	0.961	D	0.000	U	1.000	D	2.52	M	-1.58	D	0.503	D	0.710	D	0.345	2.663	14.87	4.77	2.470	7.151	16.715	0.639	0.199701906787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.008	0.67890	D	0.997	0.70673	D	0.961	0.70482	D	0.000342	0.45440	U	0.000000	0.999993	0.58761	D	2.74	0.80084	M	-1.58	0.81987	D	-3.55	0.68764	D	0.798	0.79406	0.503	0.90587	D	0.710	0.90021	D	10	0.89113057	0.88455	D	0.199702	0.86667	D	0.639	0.86232	0.544	0.65731	0.937996983728	0.93735	0.7490945338274858	0.74855	1.3820374664	0.84800	0.523808121681	0.42163	T	0.823068	0.95694	D	0.10415	0.64737	D	-0.0881721	0.64299	T	0.975579231909914	0.70994	D	0.855914	0.54393	D	0.6367647	0.74658	0.5361288	0.73194	0.6367647	0.74660	0.5361288	0.73195	-11.828	0.84003	D	.	.	0.442	0.61806	A	.;.	.;.	3.824456	0.55248	23.6	0.99079605234875945	0.51930	0.95174	0.63710	D	AEFDBCI	0.787187	0.71705	D	0.624903882496095	0.74753	6.186608	0.530906974633195	0.70082	5.452913	0.999999841651862	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.536957	0.11973	0	0.645665	0.59343	0	.	.	4.77	4.77	0.60425	7.776000	0.84252	5.912000	0.51036	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.340000	0.25432	0.0:1.0:0.0:0.0	16.715	0.85254	744	0.52588	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	563.98	49	chr16	50311764	.	C	A	563.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=884;ExcessHet=0.0000;FS=1.131;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=-1.609e+00;SOR=1.042	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1228	20	0	1	0
chr16	50354816	50354816	G	A	exonic	BRD7	.	nonsynonymous SNV	BRD7:NM_001173984:exon3:c.C365T:p.T122I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.045	B	0.067	B	0.145	N	0.994	N	1.5	L	2.2	T	-1.045	T	0.048	T	0.137	2.179	13.24	4.79	1.427	2.814	9.578	0.035	0.00471649051731	7.7e-05	.	2.472e-05	0	0	0	0	1.499e-05	0	0.0001	1.94e-05	3	154602	rs144462361	1.233e-05	1.231e-05	6.816e-06	1.79e-05	0.0002	7.71e-06	6.36e-06	8.896e-05	7.061e-05	0	0	0	0	0	0	3.598e-06	1.661e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43708	D	0.127	0.35082	T	0.026	0.21781	B	0.03	0.27542	B	0.144624	0.18172	N	0.599175	0.993687	0.23667	N	1.59	0.40313	L	2.2	0.18570	T	-1.17	0.29933	N	0.19	0.24634	-1.0447	0.15913	T	0.048	0.20553	T	10	0.063076794	0.08163	T	0.004716	0.11722	T	0.035	0.08770	.	.	0.182106788282	0.17826	0.3240848259367409	0.32321	0.15899387495	0.17942	0.370338976383	0.20881	T	0.077288	0.35619	T	-0.416674	0.01797	T	-0.576621	0.14848	T	0.110127635300159	0.13437	T	0.861414	0.55526	D	0.08296541	0.19138	0.06925609	0.14568	0.08296541	0.19137	0.06925609	0.14567	-4.039	0.24385	T	.	.	0.105	0.19276	B	.;.	.;.	3.494013	0.48848	22.7	0.99577107569731271	0.72742	0.53383	0.29358	D	AEFGBCI	0.181664	0.30898	N	-0.24238778265595	0.31407	1.760821	-0.123691941922398	0.34437	1.980908	0.99992522821679	0.46280	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.691587	0.68394	0	.	.	5.74	4.79	0.60909	2.602000	0.45921	5.867000	0.50493	0.672000	0.70159	0.138000	0.23473	0.996000	0.32793	1.000000	0.97212	0.071:0.0:0.7877:0.1413	9.578	0.38632	556	0.71678	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	928.02	35	chr16	50354816	.	G	A	928.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.560e-01;DP=807;ExcessHet=0.0000;FS=1.873;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=-9.950e-01;SOR=0.504	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1126	20	0	1	0
chr16	50669118	50669118	A	G	exonic	SNX20	.	nonsynonymous SNV	SNX20:NM_153337:exon4:c.T313C:p.Y105H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	.	.	0.68	T	-1.008	T	0.075	T	0.027	-0.551	1.503	-2.28	-0.568	-0.033	2.621	0.056	0.00300890923964	.	.	5.021e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs775853805	4.49e-06	8.904e-06	1.484e-06	7.546e-06	6.413e-05	1.62e-06	1.06e-06	2.473e-05	1.56e-05	0	0	0	0	0	0	9.788e-07	0	6.413e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.68	0.51952	T	0.26	0.04380	N	0.105	0.08925	-1.0079	0.27572	T	0.075	0.30303	T	8	0.046744525	0.03904	T	0.003009	0.06457	T	0.056	0.15993	0.142	0.04556	0.17258766438	0.16869	.	.	.	.	.	.	.	.	.	.	-0.461988	0.00955	T	-0.705088	0.05552	T	0.0242726447613716	0.01180	T	.	.	.	.	.	.	.	.	.	.	.	-1.936	0.02949	T	.	.	.	.	.	.	.	0.168040	0.05572	2.031	0.21305222156409784	0.00806	0.00181	0.01060	N	AEFBHCI	0.018182	0.00532	N	-1.44978341585961	0.02218	0.09771435	-1.5702585569571	0.01840	0.08383224	0.999813033384949	0.43459	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.38	-2.28	0.06438	-0.030000	0.12257	0.108000	0.14741	-2.084000	0.00402	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.435:0.0:0.3459:0.2191	2.621	0.04619	763	0.50172	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	1574.94	129	chr16	50669118	.	A	G	1574.94	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-4.087e+00;DP=2354;ExcessHet=1.7912;FS=129.128;InbreedingCoeff=-0.1838;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=1.69;ReadPosRankSum=0.663;SOR=9.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,32:194:99:0|1:50669118_A_G:325,0,5747:50669118	15	0	6	0
chr16	50710614	50710614	C	T	exonic	NOD2	.	nonsynonymous SNV	NOD2:NM_001293557:exon3:c.C622T:p.R208C	Blau syndrome, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	103771	Autoinflammatory_syndrome|Inflammatory_bowel_disease_1|Blau_syndrome|Regional_enteritis	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0009960,MedGen:CN260071,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580,Orphanet:90340|MeSH:D003424,MedGen:C0678202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.997	D	0.000	D	1.000	D	1.64	L	-0.57	T	-0.247	T	0.422	T	0.349	0.576	7.112	4.31	1.358	2.206	10.142	0.326	0.273144951438	7.7e-05	0.000199681	0.0001	9.617e-05	0	0	0	0.0002	0	0.0001	0.0001488	23	154602	rs104895422	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	9.833e-05	0.0001	0.0001	8.961e-05	0	0	0	0	0.0005	0.0001	9.934e-05	6.957e-05	0.0001	0.0001	0.0001	0.0001	0.0002	9.142e-05	7.698e-05	0.0001	8.876e-05	0.0002	0	0	0	0	0	0	0.0002	0	0.0002	0.157	0.23997	T	0.1	0.38742	T	0.339	0.90584	B	0.044	0.86255	B	0.000004	0.62929	D	0.000000	0.999785	0.49076	D	1.935	0.51832	L	-0.57	0.71307	T	-2.78	0.58896	D	0.374	0.41557	-0.2472	0.76435	T	0.422	0.76684	T	10	0.16146651	0.30285	T	0.273145	0.89955	D	0.326	0.64826	.	.	0.885238458156	0.88411	0.44981830910260145	0.44899	0.135669409834	0.15297	0.438364863396	0.30353	T	0.282387	0.65513	T	-0.21539	0.18625	T	-0.27287	0.47530	T	0.0767348294851004	0.09564	T	0.924508	0.72366	D	0.14051296	0.32416	0.094750024	0.22442	0.16655628	0.36997	0.09560894	0.22683	-4.9	0.35735	T	0.2727940641977857	0.36670	0.086	0.10545	B	.;.	.;.	3.536036	0.49633	22.8	0.93246938272280111	0.22935	0.87246	0.46727	D	AEFDGBI	0.419949	0.48697	N	0.159152740574724	0.49246	3.127146	0.13292633994911	0.46243	2.873522	0.999999949714139	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.26	4.31	0.50718	1.781000	0.38274	1.753000	0.28490	0.599000	0.40250	0.902000	0.31475	0.926000	0.28431	0.853000	0.40368	0.0:0.9066:0.0:0.0934	10.142	0.41913	701	0.57775	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	1197.98	33	chr16	50710614	.	C	T	1197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=808;ExcessHet=0.0000;FS=1.636;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=0.783;SOR=0.533	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	20	0	1	0
chr16	50710770	50710770	C	T	exonic	NOD2	.	nonsynonymous SNV	NOD2:NM_001293557:exon3:c.C778T:p.H260Y	Blau syndrome, Autosomal dominant	.	1	1517	4	0	0	4	0.00131666	.	.	335167	Blau_syndrome|Regional_enteritis|Inflammatory_bowel_disease_1	MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580,Orphanet:90340|MeSH:D003424,MedGen:C0678202|MONDO:MONDO:0009960,MedGen:CN260071,OMIM:266600	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.778	P	0.331	B	0.720	N	1.000	N	1.79	L	-0.39	T	-0.849	T	0.228	T	0.097	-0.937	0.365	1.89	0.612	0.283	5.947	0.093	0.0755176424288	.	0.000199681	0.0002	0	0	0	0	9.044e-05	0	0.0012	0.0001682	26	154602	rs560242309	9.577e-05	9.577e-05	5.173e-05	0.0001	0.0011	8.242e-05	7.783e-05	0.0010	0.0009	2.987e-05	2.236e-05	7.652e-05	0	0	0	2.788e-05	9.935e-05	0.0011	8.535e-05	8.53e-05	7.708e-05	9.4e-05	0.0012	4.954e-05	3.96e-05	0.0005	0.0004	0	0	0	0.0003	0	0	0	8.821e-05	0	0.0012	0.247	0.17296	T	0.088	0.40586	T	0.71	0.44187	P	0.331	0.42107	B	0.720452	0.09939	N	0.879276	1	0.08975	N	2.4	0.69460	M	-0.39	0.69158	T	-0.48	0.15379	N	0.287	0.32481	-0.8491	0.52031	T	0.228	0.59334	T	10	0.015672088	0.00329	T	0.075518	0.72308	D	0.093	0.26882	0.394	0.41935	0.85122213326	0.84978	0.2950484620605109	0.29417	0.174343088039	0.19631	0.361590087414	0.19617	T	0.139405	0.47341	T	-0.477495	0.00765	T	-0.504216	0.21911	T	0.0380062216289892	0.03332	T	0.621038	0.23867	T	0.048267987	0.08386	0.055599783	0.09783	0.055156253	0.10680	0.05544129	0.09725	-5.165	0.39033	T	0.151687570851949	0.17913	0.081	0.08224	B	.;.	.;.	-0.181879	0.03184	0.523	0.69058281142014677	0.08851	0.09273	0.15062	N	AEFDBI	0.161868	0.28797	N	-0.470339698370466	0.23056	1.235474	-0.595641457302444	0.19605	1.05266	0.999960056352405	0.48965	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.62	1.89	0.24700	0.407000	0.20770	0.069000	0.14235	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.5928:0.0:0.4072	5.947	0.18460	701	0.57775	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.02381	1205.98	33	chr16	50710770	.	C	T	1205.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.200e-02;DP=1317;ExcessHet=0.0000;FS=2.492;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.86;ReadPosRankSum=0.383;SOR=0.476	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	20	0	1	0
chr16	50710792	50710792	C	G	exonic	NOD2	.	nonsynonymous SNV	NOD2:NM_001293557:exon3:c.C800G:p.T267S	Blau syndrome, Autosomal dominant	.	1	1503	17	1	0	19	0.00628099	.	.	103775	not_provided|Autoinflammatory_syndrome|Blau_syndrome|Regional_enteritis|Inflammatory_bowel_disease_1	MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580,Orphanet:90340|MeSH:D003424,MedGen:C0678202|MONDO:MONDO:0009960,MedGen:CN260071,OMIM:266600	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	0.999	D	2.615	M	0.01	T	-0.072	T	0.441	T	0.487	2.658	14.85	4.59	2.616	3.090	12.683	0.453	.	7.7e-05	0.000599042	0.0016	0	0	0	0.0159	0.0010	0.0034	0.0015	0.0012936	200	154602	rs104895425	0.0009	0.0009	0.0008	0.0009	0.0018	0.0008	0.0008	0.0016	0.0015	2.987e-05	2.236e-05	0	0	0.0158	0.0014	0.0002	0.0010	0.0018	0.0015	0.0015	0.0007	0.0024	0.0017	0.0013	0.0013	0.0008	0.0006	2.405e-05	0	0	0	0	0.0179	0	0.0004	0.0005	0.0017	0.007	0.59928	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000003	0.62929	D	0.000000	0.999378	0.46831	D	2.71	0.79292	M	0.01	0.62459	T	-3.03	0.62747	D	0.487	0.52119	-0.0718	0.80739	T	0.441	0.77928	T	10	0.011494249	0.00251	T	.	.	.	0.453	0.75279	0.663	0.80098	0.796638325416	0.79474	0.6449815059138468	0.64433	0.417046807606	0.42336	0.436996817589	0.30167	T	0.561292	0.85318	D	-0.314858	0.07328	T	-0.249676	0.49848	T	0.0917502078245112	0.11424	T	0.767123	0.39533	T	0.38401026	0.59605	0.37821427	0.62904	0.5141746	0.67924	0.3304562	0.58914	-6.747	0.52163	T	0.6404888967544875	0.71113	0.333	0.55403	B	.;.	.;.	3.646754	0.51738	23.1	0.99442847584936889	0.64870	0.92131	0.55013	D	AEFDBI	0.536069	0.55443	D	0.56547503334926	0.71030	5.589233	0.473089049408269	0.66213	4.922825	0.999999985701156	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.55	4.59	0.56297	2.739000	0.47083	3.264000	0.37112	-0.176000	0.10722	0.987000	0.36337	0.998000	0.33993	0.118000	0.19084	0.0:0.9173:0.0:0.0827	12.683	0.56298	701	0.57775	.;NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	2840.11	33	chr16	50710792	.	C	G	2840.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.184;DP=1479;ExcessHet=0.1072;FS=10.911;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=0.020;SOR=0.315	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	19	0	2	0
chr16	50711957	50711957	G	T	exonic	NOD2	.	nonsynonymous SNV	NOD2:NM_001293557:exon3:c.G1965T:p.L655F	Blau syndrome, Autosomal dominant	.	0	1518	4	0	0	4	0.00131579	.	.	341657	Blau_syndrome|Regional_enteritis|Inflammatory_bowel_disease_1|not_provided	MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580,Orphanet:90340|MeSH:D003424,MedGen:C0678202|MONDO:MONDO:0009960,MedGen:CN260071,OMIM:266600|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.007	N	0.998	D	2.965	M	-1.41	T	0.376	D	0.671	D	0.546	3.090	16.32	3.63	1.386	0.210	8.806	0.534	0.478993356709	0.0002	0.000199681	0.0005	0	8.657e-05	0	0	0.0003	0	0.0022	0.0003687	57	154602	rs149002807	0.0002	0.0002	0.0001	0.0003	0.0019	0.0002	0.0002	0.0015	0.0014	2.987e-05	0.0002	7.667e-05	0	0	0.0019	9.626e-05	0.0002	0.0018	0.0001	0.0001	0.0001	9.393e-05	0.0012	7.083e-05	5.741e-05	0.0005	0.0004	0	0	6.53e-05	0.0003	0	0	0	0.0001	0	0.0012	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.007265	0.31496	N	0.129081	0.997575	0.44002	D	3.32	0.90714	M	-1.41	0.80560	T	-3.47	0.67824	D	0.42	0.45992	0.376	0.88743	D	0.671	0.88583	D	10	0.077540606	0.12250	T	0.478993	0.94809	D	0.534	0.80426	0.416	0.45544	0.893543592845	0.89249	0.5707385127607776	0.57001	0.487261875694	0.47556	0.625223755836	0.56467	T	0.529774	0.83706	D	-0.203846	0.20251	T	-0.072372	0.65457	T	0.191812233418415	0.19951	T	0.79872	0.44372	T	0.51463276	0.67950	0.5295364	0.72817	0.46760502	0.65143	0.5512331	0.74051	-6.16	0.47598	T	0.2522952636463176	0.34135	0.179	0.42200	B	.;.	.;.	2.715124	0.35499	19.91	0.99871678565668276	0.94902	0.59307	0.30879	D	AEFDGBHCI	0.291368	0.40251	N	0.528859531212123	0.68803	5.267871	0.434616700632308	0.63737	4.61332	0.999998963700742	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.74	3.63	0.40741	0.257000	0.18137	3.261000	0.37092	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.940000	0.48062	0.0:0.2805:0.5649:0.1546	8.806	0.34100	697	0.58201	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	1543.98	33	chr16	50711957	.	G	T	1543.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=896;ExcessHet=0.0000;FS=4.929;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.57;ReadPosRankSum=-1.080e-01;SOR=0.354	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr16	51137293	51137293	C	T	exonic	SALL1	.	nonsynonymous SNV	SALL1:NM_001127892:exon3:c.G3503A:p.G1168E	Townes-Brocks branchiootorenal-like syndrome, Autosomal dominant;Townes-Brocks syndrome, Autosomal dominant	.	0	1515	7	0	0	7	0.00230491	.	.	272359	Townes_syndrome|Townes-Brocks_syndrome_1|not_provided|SALL1-related_disorder|not_specified	MONDO:MONDO:0007142,MeSH:C536974,MedGen:C0265246,OMIM:PS107480,Orphanet:857|MONDO:MONDO:0054581,MedGen:C4551481,OMIM:107480,Orphanet:857|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.999	D	0.982	D	0.000	D	1.000	D	1.59	L	0.57	T	-0.792	T	0.257	T	0.811	3.137	16.49	5.53	2.603	2.901	19.468	0.265	0.0341230342325	0.0019	0.00119808	0.0014	9.61e-05	0.0009	0	0.0003	0.0022	0.0022	0.0009	0.0014812	229	154602	rs149302006	0.0015	0.0015	0.0015	0.0015	0.0052	0.0015	0.0015	0.0037	0.0032	0.0003	0.0016	0.0038	0	0.0003	0.0052	0.0016	0.0017	0.0009	0.0012	0.0012	0.0013	0.0011	0.0018	0.0011	0.0010	0.0015	0.0014	0.0004	0	0.0014	0.0037	0	0.0005	0.0068	0.0018	0.0019	0.0006	0.015	0.52492	D	0.096	0.39340	T	0.998	0.73220	D	0.873	0.61978	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.39	0.68882	M	0.57	0.54347	T	-0.81	0.28084	N	0.182	0.20528	-0.7924	0.55589	T	0.257	0.62744	T	10	0.007502228	0.00171	T	0.034123	0.55463	D	0.265	0.57870	.	.	0.285775778912	0.28195	0.4965408676241961	0.49575	0.284214640594	0.30848	.	.	.	0.405603	0.76174	T	-0.184235	0.23107	T	-0.0432751	0.67480	D	0.0287044439464808	0.01792	T	0.706929	0.32360	T	0.34748647	0.56872	0.36901322	0.62180	0.36580786	0.58274	0.32565126	0.58478	-8.583	0.64977	D	.	.	0.195	0.47283	B	.;.	.;.	3.438474	0.47819	22.5	0.99755607838027882	0.84615	0.91622	0.53913	D	AEFDBI	0.630361	0.61173	D	0.414828643316963	0.62236	4.436387	0.452335594685038	0.64866	4.752103	0.999999781136577	0.74766	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	5.53	5.53	0.82530	2.962000	0.48869	3.335000	0.37659	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.468	0.94942	891	0.26808	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1073.98	44	chr16	51137293	.	C	T	1073.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.770e-01;DP=958;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.63;ReadPosRankSum=0.401;SOR=0.671	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1620	20	0	1	0
chr16	51140268	51140268	C	T	exonic	SALL1	.	nonsynonymous SNV	SALL1:NM_001127892:exon2:c.G1663A:p.A555T	Townes-Brocks branchiootorenal-like syndrome, Autosomal dominant;Townes-Brocks syndrome, Autosomal dominant	.	0	1519	3	0	0	3	0.000986518	.	.	1878512	Townes_syndrome	MONDO:MONDO:0007142,MeSH:C536974,MedGen:C0265246,OMIM:PS107480,Orphanet:857	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.41	T	0.002	B	0.002	B	0.450	N	1.000	N	-0.55	N	3.3	T	-0.953	T	0.007	T	0.165	-3.753	0.001	-0.451	-2.161	-3.116	.	0.016	0.00151180906055	.	.	4.158e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs776664263	2.736e-05	2.736e-05	1.497e-05	3.988e-05	0.0003	2.062e-05	1.816e-05	0.0002	0.0002	2.987e-05	0	0	2.519e-05	0	0.0002	4.496e-06	6.623e-05	0.0003	2.628e-05	2.627e-05	3.854e-05	1.345e-05	0.0002	8.14e-06	5.14e-06	.	.	2.412e-05	0	6.541e-05	0	0	0	0	0	0.0005	0.0002	0.509	0.07720	T	0.594	0.08106	T	0.002	0.09854	B	0.002	0.06944	B	0.450017	0.04809	N	1.453040	1	0.20152	N	-0.345	0.03330	N	3.3	0.06523	T	0.54	0.02764	N	0.08	0.05799	-0.9530	0.40450	T	0.007	0.02478	T	9	0.02269727	0.00574	T	0.001512	0.02343	T	0.016	0.02506	0.333	0.32005	0.226560886239	0.22246	0.24144743707690736	0.24058	0.195899076367	0.21946	0.312926381826	0.12349	T	0.150288	0.48969	T	-0.519112	0.00445	T	-0.709145	0.05339	T	0.0314774479906283	0.02221	T	0.135986	0.01074	T	0.035499837	0.04190	0.06668498	0.13694	0.035499837	0.04190	0.06668498	0.13693	-3.622	0.18935	T	0.14710724127993707	0.17023	0.065	0.02894	B	.;.;.	.;.;.	-0.730717	0.01252	0.064	0.64280046930351487	0.07450	0.09688	0.15388	N	AEFDBHCI	0.105221	0.21030	N	-2.11786547397235	0.00117	0.005007146	-2.1781322159679	0.00125	0.005507702	0.999587932804338	0.40607	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	0.225	-0.451	0.11604	-3.103000	0.00665	-2.887000	0.03261	-3.078000	0.00127	0.010000	0.18352	0.000000	0.08366	0.000000	0.00833	.	.	.	884	0.28482	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1609.98	73	chr16	51140268	.	C	T	1609.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.73;DP=1233;ExcessHet=0.0000;FS=1.346;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=0.665;SOR=0.821	GT:AD:DP:GQ:PL	0/0:101,0:101:99:0,120,1800	20	0	1	0
chr16	51141030	51141030	C	T	exonic	SALL1	.	nonsynonymous SNV	SALL1:NM_001127892:exon2:c.G901A:p.A301T	Townes-Brocks branchiootorenal-like syndrome, Autosomal dominant;Townes-Brocks syndrome, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.205	B	0.026	B	0.000	N	1.000	N	0	N	3.21	T	-0.952	T	0.010	T	0.173	1.804	11.99	4.23	1.174	2.892	6.536	0.040	0.00857277523777	.	.	3.295e-05	0	0	0.0001	0	1.498e-05	0	0.0001	2.59e-05	4	154602	rs750514153	2.326e-05	2.326e-05	1.906e-05	2.75e-05	0.0002	1.674e-05	1.477e-05	3.348e-05	1.981e-05	2.987e-05	4.472e-05	0	0.0001	3.744e-05	0.0002	1.709e-05	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	0.37326	T	0.139	0.34837	T	0.205	0.29827	B	0.026	0.20792	B	0.000266	0.46590	N	0.250702	1	0.81001	D	1.39	0.34934	L	3.21	0.07353	T	-0.37	0.13226	N	0.029	0.00666	-0.9517	0.40678	T	0.010	0.03856	T	10	0.09012124	0.15672	T	0.008573	0.22655	T	0.040	0.10527	0.269	0.21735	0.264728329957	0.26087	0.1919869903384901	0.19116	0.21363709283	0.23881	0.447858542204	0.31652	T	0.171186	0.51922	T	-0.371514	0.03519	T	-0.568777	0.15561	T	0.142334759235382	0.16474	T	0.562144	0.19728	T	0.0305165	0.02728	0.049756512	0.07671	0.0305165	0.02728	0.049756512	0.07670	-3.529	0.17756	T	0.19819465601958425	0.26237	0.064	0.02733	B	.;.;.	.;.;.	2.276826	0.29111	18.02	0.98732103648649994	0.45363	0.69977	0.34403	D	AEFDBCI	0.244413	0.36552	N	-0.452405827958119	0.23657	1.27202	-0.254952694404257	0.29600	1.659712	0.979093009227836	0.29991	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.562822	0.20929	0	.	.	5.18	4.23	0.49319	2.885000	0.48269	1.416000	0.26322	-0.173000	0.11020	1.000000	0.71638	0.784000	0.26805	0.399000	0.26759	0.0:0.6875:0.0:0.3125	6.536	0.21552	886	0.28090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1508.98	73	chr16	51141030	.	C	T	1508.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=1216;ExcessHet=0.0000;FS=0.700;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=0.713;SOR=0.770	GT:AD:DP:GQ:PL	0/0:101,0:101:99:0,120,1800	20	0	1	0
chr16	51141185	51141185	G	A	exonic	SALL1	.	nonsynonymous SNV	SALL1:NM_001127892:exon2:c.C746T:p.A249V	Townes-Brocks branchiootorenal-like syndrome, Autosomal dominant;Townes-Brocks syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1293227	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.34	T	0.066	B	0.015	B	0.000	D	1.000	D	1.39	L	3.23	T	-1.038	T	0.023	T	0.251	2.092	12.95	4.39	2.252	9.546	17.139	0.141	0.00663113850127	.	.	2.477e-05	0	0	0	0	3.003e-05	0	6.056e-05	1.94e-05	3	154602	rs779513054	8.893e-06	8.893e-06	8.167e-06	9.626e-06	1.159e-05	4.96e-06	3.82e-06	5.75e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.975	0.04802	T	0.796	0.21078	T	0.066	0.23586	B	0.015	0.17295	B	0.000270	0.46590	D	0.225081	0.999946	0.81001	D	1.59	0.40313	L	3.23	0.07236	T	-1.11	0.28703	N	0.31	0.34981	-1.0380	0.17924	T	0.023	0.09878	T	10	0.16335917	0.30591	T	0.006631	0.17501	T	0.141	0.37795	0.31	0.28289	0.218628672733	0.21463	0.5729962325479336	0.57227	0.202601885681	0.22681	0.313057541847	0.12369	T	0.284877	0.65766	T	-0.183088	0.23279	T	-0.500769	0.22269	T	0.51873368024826	0.33318	D	0.726827	0.34112	T	0.053260267	0.10051	0.07369578	0.16044	0.053260267	0.10051	0.07369578	0.16044	-5.97	0.46322	T	0.17938363890043058	0.23037	0.096	0.17317	B	.;.;.	.;.;.	3.450800	0.48049	22.6	0.98107873308340343	0.38326	0.96953	0.71848	D	AEFBCI	0.876849	0.80111	D	-0.0895151685501903	0.37850	2.208204	0.0261917407478912	0.40934	2.451011	0.999999990424388	0.74766	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.562822	0.20929	0	.	.	4.39	4.39	0.52211	9.663000	0.97879	8.704000	0.78116	-0.167000	0.11441	1.000000	0.71638	1.000000	0.68203	0.308000	0.24690	0.0:0.0:1.0:0.0	17.139	0.86626	887	0.27948	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2559.98	73	chr16	51141185	.	G	A	2559.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.511;DP=1250;ExcessHet=0.0000;FS=3.212;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=1.10;SOR=0.798	GT:AD:DP:GQ:PL	0/0:101,0:101:99:0,120,1800	20	0	1	0
chr16	51141747	51141747	-	GCT	exonic	SALL1	.	nonframeshift insertion	SALL1:NM_001127892:exon2:c.183_184insAGC:p.S62_G63insS	Townes-Brocks branchiootorenal-like syndrome, Autosomal dominant;Townes-Brocks syndrome, Autosomal dominant	.	4	1373	56	3	86	148	0.0220798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	12825.78	138	chr16	51141744	.	CGCT	C,CGCTGCT	12825.78	.	AC=2,3;AF=0.048,0.071;AN=42;BaseQRankSum=0.846;DP=1595;ExcessHet=0.0409;FS=1.139;InbreedingCoeff=0.3189;MLEAC=2,3;MLEAF=0.048,0.071;MQ=59.99;MQRankSum=0.00;QD=22.58;ReadPosRankSum=0.232;SOR=0.595	GT:AD:DP:GQ:PL	0/0:101,0,0:101:99:0,120,1800,120,1800,1800	17	0	1	0
chr16	53462624	53462624	A	T	exonic	RBL2	.	nonsynonymous SNV	RBL2:NM_001323608:exon11:c.A1529T:p.E510V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.25	M	-3.08	D	1.020	D	0.899	D	0.971	3.905	19.86	5.8	2.221	8.059	16.146	0.955	0.698021744033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000007	0.62929	D	0.109126	1	0.81001	D	3.355	0.91145	M	-3.08	0.92560	D	-6.71	0.93060	D	0.987	0.99548	1.020	0.97538	D	0.899	0.96635	D	10	0.98157704	0.98190	D	0.698022	0.97524	D	0.955	0.99221	0.858	0.95662	0.976352431779	0.97609	0.8730617578841169	0.87272	0.906180166241	0.70856	0.533630371094	0.43546	T	0.805702	0.95091	D	0.519561	0.94895	D	0.508537	0.94819	D	0.997274192706533	0.91171	D	0.933207	0.74971	D	0.9087223	0.92176	0.8905836	0.94308	0.9087223	0.92177	0.8905836	0.94308	-15.623	0.97140	D	.	.	0.976	0.90888	P	.;.	.;.	5.149213	0.86240	28.8	0.9880068874977519	0.46445	0.98737	0.86207	D	AEFDBI	0.887082	0.81904	D	0.943380040545503	0.93717	12.22811	0.890194858102133	0.95132	13.33905	0.999999596435209	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	8.054000	0.89239	11.102000	0.86142	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.146	0.81381	440	0.80101	Retinoblastoma-associated protein, A-box|Retinoblastoma-associated protein, A-box;Retinoblastoma-associated protein, A-box|Retinoblastoma-associated protein, A-box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	827.98	44	chr16	53462624	.	A	T	827.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.720e-01;DP=967;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.89;ReadPosRankSum=-1.003e+00;SOR=0.606	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1216	20	0	1	0
chr16	53695312	53695312	C	G	exonic	RPGRIP1L	.	stoploss	RPGRIP1L:NM_001328422:exon4:c.G377C:p.X126S,	COACH syndrome, Autosomal recessive;Joubert syndrome 7, Autosomal recessive;Meckel syndrome 5, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1472044997	9.225e-06	7.952e-06	8.047e-06	1.022e-05	0.0002	2.7e-06	1.96e-06	2.54e-06	7e-07	0	0	0	0	0	0.0002	9.53e-06	3.305e-05	0	1.97e-05	1.968e-05	1.285e-05	2.686e-05	0.0004	5.24e-06	2.45e-06	7.293e-05	3.03e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.058	0.02964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.369145	0.03637	T	-0.737808	0.03984	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.926359	0.13016	9.519	0.81641040410349341	0.13786	0.16848	0.19576	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999985654621171	0.51787	0.099367	0.02607	0	0.084543	0.02171	0	0.083675	0.02720	0	0.117559	0.03655	0	0.0883137	0.19995	3.87	1.61	0.22752	-0.094000	0.11060	-0.267000	0.10379	0.599000	0.40250	0.520000	0.27111	0.000000	0.08366	0.518000	0.29429	0.2765:0.605:0.0:0.1186	4.513	0.11327	289	0.88525	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	848.98	33	chr16	53695312	.	C	G	848.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.300e-02;DP=757;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.48;ReadPosRankSum=-1.773e+00;SOR=0.578	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1425	20	0	1	0
chr16	54285864	54285864	C	G	exonic	IRX3	.	nonsynonymous SNV	IRX3:NM_024336:exon1:c.G187C:p.A63P,	.	.	364	1157	1	0	0	1	0.000431965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.993	D	0.737	P	0.000	U	0.999	D	2.085	M	0.34	T	-0.601	T	0.240	T	0.615	2.879	15.59	3.53	1.795	1.796	14.873	0.271	0.952401635061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.637e-06	8.209e-06	4.267e-06	1.311e-05	0.0002	4.61e-06	3.64e-06	3.93e-06	2.85e-06	0	0	0	0	0	0.0002	8.351e-06	3.472e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.41364	D	0.164	0.31026	T	0.993	0.65571	D	0.737	0.55577	P	0.000012	0.62929	U	0.065207	0.998849	0.45546	D	2.07	0.56829	M	0.34	0.58176	T	-0.82	0.22508	N	0.616	0.63204	-0.6011	0.64772	T	0.240	0.60845	T	10	0.8635091	0.85582	D	0.952402	0.99676	D	0.271	0.58633	0.593	0.72247	0.620183206235	0.61710	0.6813302064638868	0.68072	.	.	0.930662274361	0.99025	D	0.164069	0.50939	T	-0.0053769	0.50911	T	-0.2455	0.50261	T	0.897873759269714	0.54986	D	0.787421	0.42665	T	0.61657625	0.73580	0.6238059	0.78076	0.61657625	0.73581	0.6238059	0.78077	-10.824	0.78684	D	.	.	0.570	0.67631	P	.	.	4.170570	0.62707	24.5	0.99202050818521392	0.55321	0.81339	0.40763	D	AEFDGBHCI	0.574964	0.57754	D	0.292512804967393	0.55769	3.740963	0.222484353968641	0.51096	3.295291	0.999999999999796	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	3.53	3.53	0.39533	2.173000	0.42099	5.569000	0.48938	0.461000	0.21595	0.955000	0.33325	1.000000	0.68203	0.851000	0.40252	0.0:1.0:0.0:0.0	14.873	0.70108	942	0.12992	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	951.98	34	chr16	54285864	.	C	G	951.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.953;DP=801;ExcessHet=0.0000;FS=6.381;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=-2.518e+00;SOR=0.842	GT:AD:DP:GQ:PL	0/1:32,38:70:99:966,0,703	20	0	1	0
chr16	54285938	54285938	G	A	exonic	IRX3	.	nonsynonymous SNV	IRX3:NM_024336:exon1:c.C113T:p.A38V,	.	.	379	1128	15	0	0	15	0.00660502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.487	P	0.136	B	0.001	D	0.955	N	1.385	L	0.52	T	-0.968	T	0.112	T	0.285	1.299	10.25	2.31	1.692	1.038	11.356	0.054	.	.	0.00159744	0.0053	0	0	0	.	0.0173	0	0.0014	0.000718	111	154602	rs538043692	0.0035	0.0033	0.0036	0.0034	0.0103	0.0034	0.0034	0.0079	0.0070	0.0005	0.0028	0.0228	3.495e-05	0.0005	0.0103	0.0034	0.0056	0.0022	0.0030	0.0030	0.0034	0.0026	0.0040	0.0027	0.0027	0.0036	0.0034	0.0008	0.0143	0.0020	0.0228	0.0004	0.0004	0.0070	0.0040	0.0048	0.0012	0.228	0.18434	T	0.188	0.28669	T	0.487	0.36886	P	0.136	0.33270	B	0.000982	0.40743	D	0.207947	0.955107	0.26346	N	0.455	0.12820	N	0.52	0.55266	T	-1.06	0.27669	N	0.282	0.31925	-0.9680	0.37612	T	0.112	0.40099	T	10	0.00583449	0.00130	T	.	.	.	0.054	0.15330	.	.	0.331619326243	0.32766	0.6108631896475533	0.61018	.	.	0.885798931122	0.94726	D	0.121567	0.44461	T	-0.465588	0.00906	T	-0.438811	0.28941	T	0.0109830344359004	0.00158	T	0.421058	0.11199	T	0.09115334	0.21350	0.14248964	0.33896	0.09115334	0.21350	0.14248964	0.33895	-6.027	0.46505	T	.	.	0.106	0.19760	B	.	.	3.287656	0.45070	22.1	0.98574671198471886	0.43154	0.59377	0.30898	D	AEFDGBHCI	0.264089	0.38150	N	-0.298266147438828	0.29216	1.618194	-0.296352957196222	0.28218	1.571624	0.999999967347532	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	3.35	2.31	0.27816	1.526000	0.35570	4.116000	0.41946	0.339000	0.19733	1.000000	0.71638	1.000000	0.68203	0.219000	0.22435	0.0:0.1847:0.8153:0.0	11.356	0.48857	942	0.12992	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	757.98	34	chr16	54285938	.	G	A	757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=797;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=-1.894e+00;SOR=0.580	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,102,1530	20	0	1	0
chr16	54285939	54285939	C	A	exonic	IRX3	.	nonsynonymous SNV	IRX3:NM_024336:exon1:c.G112T:p.A38S,	.	.	379	1128	15	0	0	15	0.00660502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.035	B	0.009	B	0.001	D	0.985	N	1.385	L	0.58	T	-1.043	T	0.107	T	0.131	-0.363	2.291	3.35	1.692	0.601	9.749	0.056	.	.	0.00159744	0.0052	0	0	0	.	0.0172	0	0.0014	0.0007115	110	154602	rs556340325	0.0035	0.0033	0.0036	0.0034	0.0103	0.0034	0.0034	0.0079	0.0070	0.0005	0.0029	0.0229	3.52e-05	0.0005	0.0103	0.0034	0.0056	0.0022	0.0030	0.0030	0.0034	0.0026	0.0040	0.0027	0.0027	0.0036	0.0034	0.0008	0.0143	0.0020	0.0228	0.0004	0.0004	0.0068	0.0040	0.0048	0.0012	0.767	0.03412	T	0.481	0.11864	T	0.035	0.20614	B	0.009	0.14300	B	0.000982	0.40743	D	0.207947	0.985342	0.24719	N	-0.235	0.03917	N	0.58	0.54149	T	0.19	0.04947	N	0.216	0.24135	-1.0429	0.16443	T	0.107	0.38882	T	10	0.0048045814	0.00102	T	.	.	.	0.056	0.15993	.	.	0.238705975628	0.23479	0.5068057829421115	0.50602	.	.	0.872319877148	0.92899	D	0.052986	0.29316	T	-0.558129	0.00260	T	-0.57174	0.15290	T	0.00371756705205037	0.00039	T	0.353365	0.07952	T	0.08708261	0.20264	0.10950251	0.26392	0.08708261	0.20264	0.10950251	0.26391	-4.414	0.29746	T	.	.	0.069	0.03093	B	.	.	1.849765	0.23498	16.04	0.87816389681015083	0.17503	0.48082	0.28127	N	AEFDGBHCI	0.115866	0.22764	N	-0.558354293742	0.20223	1.064476	-0.489617507896932	0.22438	1.218763	0.999999974898488	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	3.35	3.35	0.37468	1.061000	0.30152	1.077000	0.23857	0.303000	0.18983	0.995000	0.38783	0.761000	0.26624	0.223000	0.22544	0.2074:0.7926:0.0:0.0	9.749	0.39629	942	0.12992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	757.98	34	chr16	54285939	.	C	A	757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.86;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=-2.092e+00;SOR=0.580	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,102,1530	20	0	1	0
chr16	54932885	54932885	C	T	exonic	IRX5	.	nonsynonymous SNV	IRX5:NM_001252197:exon2:c.C637T:p.P213S	Hamamy syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2254254	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.78	T	0.0	B	0.0	B	0.659	N	0.998	N	-1.15	N	0.43	T	-1.023	T	0.046	T	0.076	-2.375	0.004	-0.532	0.068	0.464	7.623	0.049	0.00766576096058	.	.	8.394e-05	0	0	0	0	4.565e-05	0.0011	0.0004	7.12e-05	11	154602	rs760174440	3.428e-05	3.42e-05	2.864e-05	3.997e-05	0.0003	2.637e-05	2.38e-05	0.0002	0.0002	0	0	0	0	0	0.0003	1.981e-05	3.323e-05	0.0003	3.29e-05	3.284e-05	5.143e-05	1.347e-05	5.885e-05	1.262e-05	7.99e-06	1.973e-05	1.125e-05	0	0	0	0	0	0	0.0032	5.885e-05	0	0	0.922	0.03373	T	0.734	0.05090	T	0.0	0.02946	B	0.0	0.01387	B	0.659125	0.05969	N	1.190180	0.998064	0.44470	D	-1.445	0.00556	N	0.43	0.56772	T	0.75	0.04947	N	0.071	0.09772	-1.0229	0.22769	T	0.046	0.19599	T	10	0.015829444	0.00333	T	0.007666	0.20352	T	0.049	0.13647	0.264	0.20946	0.27132560031	0.26736	0.19846042313486417	0.19763	.	.	0.450714737177	0.32042	T	0.039963	0.25369	T	-0.492441	0.00630	T	-0.634615	0.10067	T	0.029127217000369	0.01856	T	0.626037	0.24205	T	0.03617929	0.04399	0.07244584	0.15630	0.04168336	0.06185	0.080777004	0.18300	-3.601	0.19658	T	0.06804701696780142	0.02442	0.069	0.03197	B	.;.	.;.	0.302262	0.06781	3.297	0.92525775302392343	0.21969	0.14590	0.18483	N	AEFDBHCI	0.048364	0.08245	N	-1.34529207354684	0.03174	0.1413514	-1.19383920259482	0.06012	0.28813	0.999999537928528	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.14	-0.532	0.11296	0.467000	0.21747	-0.327000	0.09919	-0.988000	0.01860	0.370000	0.25924	0.000000	0.08366	0.868000	0.41282	0.0:0.5555:0.27:0.1745	7.623	0.27363	880	0.29376	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	989.98	35	chr16	54932885	.	C	T	989.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.72;DP=804;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.35;ReadPosRankSum=-1.328e+00;SOR=0.582	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1173	20	0	1	0
chr16	54933578	54933578	C	T	exonic	IRX5	.	nonsynonymous SNV	IRX5:NM_001252197:exon3:c.C1154T:p.P385L	Hamamy syndrome, Autosomal recessive	.	0	1513	9	0	0	9	0.0029654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.906	P	0.42	B	0.000	D	1.000	D	1.04	L	0.6	T	-0.900	T	0.137	T	0.326	3.419	17.56	4.45	2.292	3.859	16.241	0.064	0.176316878059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.373e-06	1.368e-06	1.365e-06	1.381e-06	1.168e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.012e-07	0	1.168e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.032	0.56192	D	0.906	0.49993	P	0.42	0.45080	B	0.000123	0.49741	D	0.136380	0.999999	0.81001	D	0.895	0.22405	L	0.6	0.53731	T	-2.63	0.83830	D	0.386	0.46742	-0.9005	0.47942	T	0.137	0.45375	T	10	0.34744927	0.51679	T	0.176317	0.85212	D	0.064	0.18567	0.298	0.26362	0.690070301869	0.68741	0.394449344943564	0.39359	.	.	0.811197221279	0.83676	D	0.211403	0.57216	T	-0.0877665	0.38443	T	-0.363847	0.37607	T	0.963877558708191	0.66788	D	0.872513	0.57956	D	0.23063251	0.45822	0.29571152	0.55603	0.23063251	0.45822	0.29571152	0.55602	-4.394	0.29475	T	0.3410624040861192	0.43879	0.124	0.55549	B	.;.;.	.;.;.	4.364698	0.67148	25.1	0.99483516837761399	0.67014	0.95666	0.65642	D	AEFDBHCI	0.592346	0.58809	D	0.304777220845893	0.56394	3.803975	0.354962059900263	0.58806	4.053657	0.999999999999747	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.45	4.45	0.53365	3.506000	0.53121	7.609000	0.61840	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	16.241	0.82232	873	0.30802	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1513.98	35	chr16	54933578	.	C	T	1513.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=863;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=0.252;SOR=0.702	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,997	20	0	1	0
chr16	55529844	55529844	G	A	exonic	LPCAT2	.	nonsynonymous SNV	LPCAT2:NM_017839:exon4:c.G539A:p.R180Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.989	D	0.782	P	0.000	N	0.999	D	1.97	M	-4.56	D	0.963	D	0.918	D	0.243	4.392	23.2	4.33	1.366	5.969	13.067	0.637	0.215954478278	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1263512562	6.867e-06	8.209e-06	8.196e-06	5.524e-06	2.525e-05	3.47e-06	2.53e-06	3.1e-06	2.24e-06	0	0	0	2.525e-05	0	0	7.212e-06	0	1.174e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.24758	T	0.166	0.30828	T	0.989	0.62824	D	0.782	0.57384	P	0.000003	0.62929	N	0.104854	0.999054	0.45965	D	2.085	0.57729	M	-4.56	0.97772	D	-1.22	0.30964	N	0.52	0.55019	0.963	0.96588	D	0.918	0.97298	D	10	0.74290794	0.75084	D	0.215954	0.87534	D	0.637	0.86130	0.741	0.87317	0.874144960931	0.87291	0.598303703254258	0.59761	0.82754777831	0.67484	0.415819913149	0.27261	T	0.345423	0.71381	T	0.0179946	0.54110	T	-0.0394707	0.67737	D	0.646360039710999	0.38307	D	0.808619	0.45852	T	0.21536659	0.43967	0.15381515	0.36127	0.21536659	0.43967	0.15381515	0.36126	-7.446	0.57229	T	.	.	0.083	0.09433	B	.	.	3.988717	0.58685	24.0	0.99927349548176991	0.99163	0.98010	0.78847	D	AEFBI	0.524610	0.54772	D	0.548438754183465	0.69988	5.435819	0.53074002283444	0.70068	5.451269	0.999889196745424	0.44867	0.722319	0.85440	0	0.573888	0.26702	0	0.618467	0.43123	0	0.735409	0.98432	0	.	.	5.29	4.33	0.51083	5.155000	0.64745	2.316000	0.32105	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0778:0.0:0.9222:0.0	13.067	0.58449	802	0.44336	Phospholipid/glycerol acyltransferase|Phospholipid/glycerol acyltransferase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	726.98	33	chr16	55529844	.	G	A	726.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.160e-01;DP=738;ExcessHet=0.0000;FS=1.099;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=-1.055e+00;SOR=1.022	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,945	20	0	1	0
chr16	55701930	55701930	T	A	exonic	SLC6A2	.	nonsynonymous SNV	SLC6A2:NM_001172502:exon11:c.T1511A:p.F504Y	Orthostatic intolerance	.	1	1500	21	0	0	21	0.00695134	.	.	755248	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.32	T	1.0	D	0.988	D	0.000	D	1.000	D	0.805	L	-0.8	T	-0.359	T	0.405	T	0.687	4.425	23.5	5.03	1.902	5.525	13.773	0.496	0.0675619994368	0.0002	0.00139776	0.0012	0	0.0011	0	0	0.0003	0.0044	0.0067	0.0010608	164	154602	rs139680023	0.0007	0.0007	0.0004	0.0010	0.0081	0.0007	0.0007	0.0076	0.0074	2.989e-05	0.0006	0	0	0	0.0071	0.0002	0.0007	0.0081	0.0005	0.0005	0.0003	0.0007	0.0095	0.0004	0.0004	0.0073	0.0066	0	0	0.0001	0	0	0	0	0.0004	0	0.0095	0.003	0.78490	D	0.029	0.92824	D	1.0	0.90584	D	0.984	0.76113	D	0.000000	0.84330	D	0.051590	0.999999	0.81001	D	1.87	0.49600	L	-0.85	0.77336	T	-1.35	0.37178	N	0.405	0.50598	-0.3590	0.73293	T	0.405	0.75501	T	10	0.010159522	0.00227	T	0.067562	0.70202	D	0.496	0.78100	.	.	0.848745377358	0.84729	0.5942093681427995	0.59350	0.85730736074	0.68797	0.598129212856	0.52640	T	0.128036	0.45545	T	-0.162796	0.26331	T	-0.00191641	0.70212	D	0.105187988208665	0.12918	T	0.660234	0.29515	T	0.49887446	0.67029	0.4039117	0.64833	0.5053471	0.67409	0.3590161	0.61367	-1.874	0.03121	T	.	.	0.213	0.45136	B	.;.;.;.;.;.	.;.;.;.;.;.	3.996893	0.58871	24.0	0.99467740798649085	0.66154	0.88031	0.47784	D	ALL	0.643845	0.62031	D	0.422060913277474	0.62635	4.482852	0.430067640720027	0.63447	4.57857	0.999999996252499	0.74766	0.520426	0.21595	0	0.596394	0.48810	0	0.440839	0.06518	1	0.636	0.56748	0	.	.	5.03	5.03	0.67015	5.805000	0.68809	7.763000	0.68332	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.771000	0.36558	0.0:0.0:0.0:1.0	13.773	0.62523	871	0.31377	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1199.98	41	chr16	55701930	.	T	A	1199.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.587e+00;DP=806;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=-5.400e-01;SOR=0.617	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1061	20	0	1	0
chr16	55810597	55810597	T	C	exonic	CES1	.	nonsynonymous SNV	CES1:NM_001025194:exon11:c.A1235G:p.K412R	Carboxylesterase 1 deficiency (3)	.	0	1521	1	0	0	1	0.000328623	.	.	3293316	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	0.003	B	0.015	B	0.006	N	0.972	N	0.81	L	-0.33	T	-1.018	T	0.135	T	0.15	1.655	11.49	1.11	0.171	0.527	3.688	0.028	0.0168709245548	.	.	6.589e-05	0	0	0.0002	0	7.492e-05	0	6.056e-05	6.47e-05	10	154602	rs776903994	6.02e-05	6.02e-05	5.989e-05	6.05e-05	0.0003	4.961e-05	4.626e-05	9.791e-05	7.838e-05	0	0	0	0.0001	1.872e-05	0.0003	5.396e-05	0.0001	0.0002	6.571e-05	6.566e-05	7.708e-05	5.38e-05	0.0002	3.517e-05	2.616e-05	6.803e-05	5.087e-05	0	0	0	0	0.0002	0	0	0.0001	0	0	0.173	0.22573	T	0.258	0.28669	T	0.001	0.11197	B	0.009	0.17295	B	0.005662	0.32605	N	0.267834	0.972454	0.25600	N	0.255	0.09829	N	-0.33	0.68329	T	-1.7	0.40468	N	0.18	0.19995	-1.0175	0.24528	T	0.135	0.44933	T	10	0.1012007	0.18476	T	0.016871	0.38326	T	0.028	0.06331	.	.	0.543910352347	0.54045	0.1484405005793061	0.14766	0.0246498814523	0.02506	0.293488740921	0.09433	T	0.032348	0.48469	T	-0.335177	0.05730	T	-0.454807	0.27168	T	0.0158405529939267	0.00371	T	0.705629	0.35599	T	0.27089873	0.50161	0.19777122	0.43576	0.27089873	0.50160	0.19777122	0.43575	-3.917	0.23759	T	0.2261652758075441	0.30564	0.082	0.08899	B	.;.;.;.	.;.;.;.	1.282996	0.16827	12.79	0.99035719073005257	0.50895	0.27643	0.23335	N	AEBI	0.424320	0.48954	N	-0.730118525393465	0.15179	0.7627105	-0.675017966408331	0.17586	0.9357868	0.00275886722076499	0.09683	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.69	1.11	0.19640	0.381000	0.20348	-3.782000	0.02540	0.643000	0.52288	0.142000	0.23535	0.000000	0.08366	0.973000	0.55318	0.0:0.2043:0.1918:0.6039	3.688	0.07869	928	0.17405	.;.;.;Carboxylesterase, type B	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	998.98	33	chr16	55810597	.	T	C	998.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.813;DP=762;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.50;ReadPosRankSum=-1.080e-01;SOR=0.688	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1252	20	0	1	0
chr16	55812947	55812947	T	C	exonic	CES1	.	nonsynonymous SNV	CES1:NM_001025194:exon9:c.A1039G:p.M347V	Carboxylesterase 1 deficiency (3)	.	0	1516	6	0	0	6	0.00197498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.036	B	0.037	B	0.346	N	0.999	N	1.665	L	3.07	T	-1.031	T	0.030	T	0.408	0.341	5.852	3.06	0.477	2.708	8.991	0.102	0.00631226435524	7.7e-05	0.000199681	0.0003	0	0	0	0	1.498e-05	0	0.0019	0.0002199	34	154602	rs145135221	0.0001	0.0001	8.032e-05	0.0002	0.0021	0.0001	0.0001	0.0018	0.0017	0	0	0	0	0	0.0003	1.259e-05	9.937e-05	0.0021	7.223e-05	7.218e-05	1.285e-05	0.0001	0.0023	3.968e-05	3.125e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.033	0.45039	D	0.101	0.38596	T	0.029	0.19866	B	0.022	0.20508	B	0.345600	0.13896	N	0.675217	0.99873	0.21949	N	1.74	0.45129	L	3.07	0.10008	T	0.36	0.03700	N	0.24	0.40963	-1.0310	0.20131	T	0.030	0.12848	T	10	0.02945301	0.01072	T	0.006312	0.16580	T	0.102	0.29158	.	.	0.0762999501168	0.06990	0.5128834637500791	0.51210	0.0273575415295	0.02796	0.334775656462	0.15654	T	0.157485	0.50011	T	-0.485345	0.00689	T	-0.476417	0.24828	T	0.0635428921343275	0.07714	T	0.705629	0.31596	T	0.33968526	0.56255	0.29129216	0.55154	0.33968526	0.56255	0.29129216	0.55153	-7.441	0.60181	T	0.2822344326488468	0.37771	0.107	0.26855	B	.;.;.	.;.;.	2.205662	0.28138	17.70	0.74872305679563822	0.10859	0.87441	0.46982	D	AEFGI	0.672253	0.63872	D	-0.496701265558183	0.22189	1.183031	-0.48414767970301	0.22590	1.227715	0.256039544160999	0.18735	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.18	3.06	0.34374	1.588000	0.36242	1.243000	0.25119	0.643000	0.52288	1.000000	0.71638	0.942000	0.28804	0.061000	0.16044	0.0:0.0:0.1874:0.8126	8.991	0.35187	928	0.17405	.;.;Carboxylesterase, type B	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	963.98	186	chr16	55812947	.	T	C	963.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.957e+00;DP=1038;ExcessHet=0.0000;FS=1.985;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.18;ReadPosRankSum=-6.060e-01;SOR=0.877	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	20	0	1	0
chr16	55823613	55823613	G	A	exonic	CES1	.	nonsynonymous SNV	CES1:NM_001025194:exon4:c.C473T:p.A158V	Carboxylesterase 1 deficiency (3)	.	0	1505	17	0	0	17	0.00561612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.991	D	0.731	P	0.005	N	0.984	D	1.2	L	2.88	T	-1.141	T	0.038	T	0.222	3.107	16.38	4.05	1.829	5.847	9.941	0.164	.	7.7e-05	.	0.0092	0.0004	0.0004	0.0003	0	2.997e-05	0.0011	0.0669	0.0073285	1133	154602	rs202121317	0.0037	0.0040	0.0021	0.0054	0.0598	0.0037	0.0036	0.0584	0.0579	0.0005	2.237e-05	0	0.0004	1.872e-05	0.0023	3.238e-05	0.0045	0.0598	0.0019	0.0023	0.0011	0.0027	0.0578	0.0017	0.0016	0.0522	0.0500	0.0002	0	0	0	0.0006	0	0	1.47e-05	0	0.0578	0.039	0.42487	D	0.024	0.59159	D	0.989	0.64070	D	0.557	0.55321	P	0.004663	0.33505	N	0.212848	0.983763	0.40056	D	1.68	0.43186	L	2.88	0.11189	T	-3.14	0.64019	D	0.291	0.36989	-1.1406	0.01336	T	0.038	0.16290	T	10	0.0069095194	0.00157	T	.	.	.	0.164	0.42212	.	.	0.117506650769	0.11410	0.6684481198172539	0.66782	0.0959331486616	0.10827	0.346175581217	0.17358	T	0.388716	0.74933	T	-0.547318	0.00303	T	-0.51417	0.20887	T	0.0542567585836936	0.06232	T	0.911709	0.68653	D	0.5689683	0.71003	0.3693836	0.62209	0.5689683	0.71005	0.3693836	0.62209	-8.184	0.62969	D	0.2432735252205223	0.32951	0.262	0.50380	B	.;.;.	.;.;.	4.101286	0.61153	24.3	0.99892962275422781	0.96666	0.92126	0.55002	D	AEFGI	0.923544	0.90019	D	0.296145747370892	0.55952	3.759449	0.261276052500717	0.53291	3.49895	0.90499167727813	0.26193	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	4.05	4.05	0.46415	6.387000	0.73118	8.564000	0.77578	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.703000	0.34233	0.0:0.2086:0.7914:0.0	9.941	0.40748	934	0.15400	.;.;Carboxylesterase, type B	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1203.98	41	chr16	55823613	.	G	A	1203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.023e+00;DP=1136;ExcessHet=0.0000;FS=6.694;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=52.93;MQRankSum=-3.518e+00;QD=4.07;ReadPosRankSum=-6.800e-01;SOR=1.108	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr16	55846471	55846471	A	G	exonic	CES5A	.	nonsynonymous SNV	CES5A:NM_145024:exon12:c.T1558C:p.F520L	.	.	428	1090	4	0	0	4	0.0018315	.	.	2336363	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.001	B	0.002	B	0.673	N	1.000	N	0	N	-0.03	T	-1.012	T	0.082	T	0.127	0.660	7.536	-1.63	-0.393	0.162	0.910	0.056	0.011465063853	.	.	5.809e-05	0	8.655e-05	0	0	6.043e-05	0	0.0001	5.17e-05	8	154602	rs752945026	0.0001	0.0001	8.987e-05	0.0001	0.0035	8.85e-05	8.335e-05	0.0023	0.0019	2.988e-05	6.71e-05	7.652e-05	0	1.873e-05	0.0035	7.916e-05	0.0002	0.0003	0.0001	0.0001	0.0002	5.378e-05	0.0002	7.575e-05	6.28e-05	0.0001	0.0001	2.411e-05	0	0	0	0	0	0	0.0002	0.0010	0	0.177	0.22224	T	0.68	0.06109	T	0.001	0.07471	B	0.002	0.06944	B	0.672753	0.10327	N	0.820175	1	0.08975	N	0.55	0.14455	N	-0.18	0.67543	T	-0.04	0.07882	N	0.111	0.12055	-1.0121	0.26259	T	0.082	0.32207	T	10	0.045092493	0.03539	T	0.011465	0.29107	T	0.056	0.15993	0.281	0.23642	0.0762999501168	0.06990	0.18913729509285987	0.18831	0.0529550830812	0.05838	0.341424584389	0.16652	T	0.006434	0.05862	T	-0.412198	0.01922	T	-0.537721	0.18521	T	0.0211068860408397	0.00812	T	0.716728	0.32905	T	0.04356672	0.06811	0.044820726	0.05893	0.04356672	0.06811	0.044820726	0.05892	-1.538	0.02043	T	.	.	0.215	0.51262	B	.;.;.;.;.;.	.;.;.;.;.;.	0.251680	0.06311	2.768	0.56200009552516028	0.05501	0.01133	0.04117	N	AEFBI	0.053113	0.09541	N	-1.3264929457529	0.03375	0.1506531	-1.32023581721601	0.04169	0.1960781	0.381446806880549	0.19964	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.05	-1.63	0.07900	0.166000	0.16400	0.090000	0.14504	0.756000	0.94297	0.020000	0.19661	0.000000	0.08366	0.020000	0.11549	0.3768:0.1546:0.3011:0.1676	0.910	0.01211	929	0.16858	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1093.98	93	chr16	55846471	.	A	G	1093.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.347;DP=1227;ExcessHet=0.0000;FS=0.797;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=-1.580e-01;SOR=0.581	GT:AD:DP:GQ:PL	0/0:91,0:91:99:0,120,1800	20	0	1	0
chr16	55849715	55849715	G	T	exonic	CES5A	.	nonsynonymous SNV	CES5A:NM_001143685:exon11:c.C1332A:p.D444E	.	.	431	1074	15	2	0	19	0.00876788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.856	P	0.492	P	0.085	N	1.000	N	1.37	L	-0.21	T	-0.921	T	0.198	T	0.287	1.791	11.95	3.18	1.550	0.297	4.286	0.109	0.0267763963323	0.0003	0.000798722	0.0011	0.0004	0.0026	0	0	0.0012	0.0022	0.0011	0.0010543	163	154602	rs181438833	0.0009	0.0009	0.0009	0.0010	0.0376	0.0009	0.0009	0.0335	0.0319	0.0007	0.0039	0.0005	5.038e-05	3.746e-05	0.0376	0.0006	0.0022	0.0009	0.0010	0.0010	0.0009	0.0012	0.0019	0.0009	0.0009	0.0014	0.0012	0.0003	0	0.0019	0.0003	0	0	0.0748	0.0011	0.0057	0.0008	0.125	0.28395	T	0.136	0.42794	T	0.856	0.47190	P	0.492	0.47401	P	0.085412	0.20643	N	0.413513	1	0.08975	N	1.65	0.42232	L	-0.21	0.66294	T	-2.02	0.51157	N	0.268	0.37509	-0.9206	0.45472	T	0.198	0.55272	T	10	0.0059216022	0.00133	T	0.026776	0.49657	D	0.109	0.30843	0.397	0.42426	0.0482279557977	0.04254	0.10762139173764923	0.10691	0.191555154566	0.21486	0.344490289688	0.17107	T	0.100386	0.67485	T	-0.445695	0.01197	T	-0.414143	0.31748	T	0.0392730489088655	0.03559	T	0.564644	0.20837	T	0.05933704	0.12046	0.07330105	0.15914	0.05933704	0.12046	0.07330105	0.15914	-3.494	0.19082	T	.	.	0.167	0.39477	B	.;.;.;.;.	.;.;.;.;.	2.649325	0.34491	19.64	0.99206065601331617	0.55442	0.06738	0.12760	N	AEFDBI	0.075762	0.15222	N	-0.274428242612552	0.30139	1.677769	-0.378485646956165	0.25640	1.411247	3.83341854043478E-4	0.06781	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.29	3.18	0.35615	0.061000	0.14242	0.595000	0.19862	0.676000	0.76740	0.000000	0.06391	0.060000	0.22018	0.962000	0.52141	0.184:0.0:0.6341:0.1819	4.286	0.10302	929	0.16858	.;.;Carboxylesterase, type B;Carboxylesterase, type B;Carboxylesterase, type B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1554.98	48	chr16	55849715	.	G	T	1554.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.462;DP=932;ExcessHet=0.0000;FS=1.561;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.27;ReadPosRankSum=2.00;SOR=0.542	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,111,1665	20	0	1	0
chr16	55852892	55852892	C	G	exonic	CES5A	.	nonsynonymous SNV	CES5A:NM_001143685:exon10:c.G1262C:p.R421P	.	.	437	1068	15	1	1	18	0.00789596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.896	P	0.631	P	0.978	N	1.000	N	3.4	M	3.06	T	-0.938	T	0.064	T	0.67	1.882	12.25	-6.11	-1.205	-0.420	15.763	0.229	0.00758740576736	0.0007	0.000798722	0.0013	0.0004	0.0025	0	0	0.0015	0.0022	0.0018	0.0012613	195	154602	rs147727760	0.0010	0.0010	0.0010	0.0011	0.0353	0.0010	0.0010	0.0312	0.0297	0.0007	0.0039	0.0041	5.04e-05	3.746e-05	0.0353	0.0007	0.0024	0.0013	0.0011	0.0011	0.0010	0.0013	0.0019	0.0010	0.0009	0.0014	0.0012	0.0003	0	0.0019	0.0043	0	0	0.0685	0.0011	0.0057	0.0010	0.003	0.72154	D	0.008	0.67890	D	0.077	0.49324	B	0.076	0.51788	B	0.978265	0.08111	N	0.985983	0.999995	0.08975	N	3.99	0.96693	H	3.06	0.08634	T	-3.49	0.68056	D	0.468	0.50418	-0.9376	0.42994	T	0.064	0.26597	T	10	0.012463182	0.00268	T	0.007587	0.20139	T	0.229	0.52916	.	.	0.0401082797425	0.02173	0.7536031567397384	0.75307	0.243668225337	0.26869	0.228653237224	0.01870	T	0.444027	0.84784	T	-0.381525	0.03048	T	-0.322284	0.42324	T	0.130970427890295	0.15472	T	0.880912	0.66351	D	0.85855764	0.87977	0.8964487	0.94724	0.85855764	0.87978	0.8964487	0.94725	-11.884	0.84488	D	.	.	0.853	0.84963	P	.;.;.;.;.;.	.;.;.;.;.;.	1.864301	0.23680	16.11	0.95851265854640877	0.27992	0.07361	0.13381	N	AEFBI	0.219557	0.34443	N	-0.833271946106346	0.12465	0.6078047	-1.08622805862246	0.07971	0.3899093	0.00125429439532242	0.08381	0.487112	0.14033	0	0.55458	0.17659	0	0.023989	0.00149	3	0.564101	0.26826	0	.	.	5.41	-6.11	0.01950	-0.441000	0.06951	-2.593000	0.03570	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.258000	0.23468	0.0:0.7253:0.0:0.2747	15.763	0.77871	929	0.16858	.;.;.;Carboxylesterase, type B;Carboxylesterase, type B;Carboxylesterase, type B	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2357.11	40	chr16	55852892	.	C	G	2357.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.36;DP=896;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.39;ReadPosRankSum=-3.370e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1620	19	0	2	0
chr16	55871648	55871648	C	T	exonic	CES5A	.	nonsynonymous SNV	CES5A:NM_001143685:exon3:c.G394A:p.A132T	.	.	435	1072	14	1	0	16	0.00740741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	1.0	D	0.995	D	0.000	D	1.000	N	1.365	L	-0.23	T	-0.920	T	0.079	T	0.332	2.585	14.60	4.11	2.548	0.650	11.111	0.261	.	7.7e-05	0.0155751	0.0079	0.0003	0.0003	0.0458	0	0.0004	0.0088	0.0315	0.0071474	1105	154602	rs143198507	0.0036	0.0037	0.0029	0.0044	0.0577	0.0036	0.0035	0.0557	0.0549	0.0001	0.0005	0.0008	0.0577	0	0.0016	0.0002	0.0043	0.0291	0.0029	0.0030	0.0021	0.0038	0.0422	0.0027	0.0026	0.0376	0.0358	0.0004	0	0.0016	0.0017	0.0422	0	0	0.0001	0.0043	0.0343	0.318	0.16683	T	0.555	0.10750	T	1.0	0.90584	D	0.995	0.83170	D	0.000251	0.46924	D	0.000000	1	0.08975	N	0.905	0.23240	L	-0.23	0.66652	T	-1.7	0.63090	N	0.146	0.18376	-0.9203	0.45513	T	0.079	0.31526	T	10	0.0030933022	0.00051	T	.	.	.	0.261	0.57352	.	.	0.404034981753	0.40020	0.6161346590139009	0.61545	0.257089264013	0.28279	0.344182699919	0.17062	T	0.054175	0.29650	T	-0.472377	0.00822	T	-0.401846	0.33168	T	0.0640882546504064	0.07796	T	0.692831	0.53247	T	0.09845061	0.23221	0.16496302	0.38187	0.09845061	0.23221	0.16496302	0.38187	-4.771	0.34252	T	.	.	0.112	0.26482	B	.;.;.;.;.	.;.;.;.;.	2.752879	0.36087	20.2	0.99728591860884608	0.82619	0.20432	0.21039	N	AEFDGBCI	0.064160	0.12443	N	-0.0917447921169195	0.37754	2.201079	-0.234854671446656	0.30297	1.704613	0.990735054840768	0.32251	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.13	4.11	0.47350	0.401000	0.20673	0.766000	0.21355	-0.176000	0.10722	0.015000	0.19116	0.016000	0.20520	0.001000	0.02609	0.0:0.8132:0.1868:0.0	11.111	0.47452	923	0.18507	.;.;.;Carboxylesterase, type B;Carboxylesterase, type B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2548.98	34	chr16	55871648	.	C	T	2548.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.980e+00;DP=854;ExcessHet=0.0000;FS=2.214;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.08;ReadPosRankSum=0.172;SOR=0.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,108,1438	20	0	1	0
chr16	55871659	55871659	G	T	exonic	CES5A	.	nonsynonymous SNV	CES5A:NM_001143685:exon3:c.C383A:p.A128E	.	.	436	1071	14	1	0	16	0.00741427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.991	D	0.006	N	1.000	D	3.1	M	-0.31	T	-0.353	T	0.156	T	0.771	3.921	19.94	4.17	2.553	3.159	10.212	0.448	.	.	0.0155751	0.0078	0.0003	0.0003	0.0460	0	0.0003	0.0088	0.0314	0.0070762	1094	154602	rs148234688	0.0036	0.0037	0.0029	0.0044	0.0585	0.0036	0.0035	0.0566	0.0558	0.0001	0.0004	0.0008	0.0585	0	0.0016	0.0001	0.0043	0.0293	0.0029	0.0029	0.0021	0.0038	0.0421	0.0027	0.0026	0.0376	0.0358	0.0004	0	0.0013	0.0017	0.0421	0	0	0.0001	0.0043	0.0342	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.991	0.79672	D	0.006162	0.32222	N	0.145278	1	0.81001	D	3.36	0.91202	M	-0.31	0.68030	T	-2.27	0.54546	N	0.658	0.66787	-0.3531	0.73464	T	0.156	0.48824	T	10	0.015060633	0.00316	T	.	.	.	0.448	0.74935	.	.	0.509109621728	0.50552	0.9025531029679802	0.90227	0.264670799846	0.29017	0.357738345861	0.19055	T	0.323243	0.69417	T	-0.199897	0.20820	T	-0.00806536	0.69812	D	0.123356952034893	0.14754	T	0.90031	0.80045	D	0.7339333	0.79946	0.72389394	0.83693	0.7339333	0.79948	0.72389394	0.83694	-9.498	0.73106	D	.	.	0.617	0.69592	P	.;.;.;.;.	.;.;.;.;.	2.892114	0.38301	20.7	0.99239344655974082	0.56501	0.87185	0.46648	D	AEFDGBCI	0.189552	0.31680	N	0.438389610010089	0.63546	4.590602	0.252853441989632	0.52813	3.453538	0.999970772153781	0.50053	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.14	4.17	0.48303	2.663000	0.46440	0.731000	0.21087	-0.109000	0.15193	0.487000	0.26855	0.000000	0.08366	0.016000	0.10718	0.097:0.0:0.903:0.0	10.212	0.42326	923	0.18507	.;.;.;Carboxylesterase, type B|Carboxylesterase type B, conserved site;Carboxylesterase, type B|Carboxylesterase type B, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2628.98	34	chr16	55871659	.	G	T	2628.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.749;DP=866;ExcessHet=0.0000;FS=2.057;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.30;ReadPosRankSum=0.182;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,108,1438	20	0	1	0
chr16	56363997	56363997	G	A	exonic	AMFR	.	nonsynonymous SNV	AMFR:NM_001144:exon13:c.C1708T:p.R570C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.912	D	0.000	D	1.000	D	2.28	M	2.35	T	-1.037	T	0.105	T	0.785	4.601	25.1	4.86	2.676	7.595	13.504	0.331	0.0225487323618	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1419932705	3.42e-06	3.42e-06	1.361e-06	5.5e-06	5.038e-05	1e-06	7.3e-07	8.35e-06	3.12e-06	0	0	0	5.038e-05	0	0	1.799e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.891	0.63213	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.93	0.84523	M	2.35	0.16217	T	-4.62	0.79143	D	0.856	0.85238	-1.0367	0.18326	T	0.105	0.38440	T	10	0.5905813	0.66357	D	0.022549	0.45449	T	0.331	0.65325	0.25	0.18757	0.498450045523	0.49481	0.4655193540459423	0.46470	1.60485491865	0.88774	0.86336350441	0.91606	D	0.500061	0.82081	D	-0.0115833	0.50044	T	-0.0852868	0.64515	T	0.998524725437164	0.94393	D	0.974303	0.91165	D	0.5570147	0.70345	0.37632623	0.62757	0.5570147	0.70346	0.37632623	0.62757	-8.132	0.61966	D	.	.	0.813	0.77902	P	.;.	.;.	5.774502	0.93493	33	0.9993376194615391	0.99488	0.94915	0.62772	D	AEFDGBCI	0.946579	0.95617	D	0.809274168854528	0.86682	8.964657	0.776397710707637	0.88109	9.46044	0.999999881481728	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	4.86	4.86	0.62624	7.679000	0.83364	9.883000	0.82214	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.844:0.156	13.504	0.60931	793	0.45818	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2319.98	37	chr16	56363997	.	G	A	2319.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.092;DP=903;ExcessHet=0.0000;FS=2.387;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.26;ReadPosRankSum=1.93;SOR=0.678	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1388	20	0	1	0
chr16	56652588	56652588	G	A	exonic	MT1B	.	nonsynonymous SNV	MT1B:NM_005947:exon2:c.G46A:p.A16T,	.	.	417	1102	3	0	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.011	B	0.009	B	0.001	U	1.000	N	.	.	2.74	T	-1.024	T	0.009	T	0.13	0.338	5.834	-0.88	-0.324	-0.110	3.056	0.013	.	0.0062	0.00319489	0.0073	0.0021	0.0019	0	0.0364	0.0088	0.0055	0.0003	0.0068175	1054	154602	rs150778656	0.0076	0.0076	0.0080	0.0073	0.0076	0.0075	0.0075	0.0074	0.0074	0.0012	0.0026	0.0089	0	0.0358	0.0017	0.0076	0.0066	0.0003	0.0073	0.0073	0.0061	0.0086	0.0078	0.0070	0.0068	0.0072	0.0070	0.0017	0.0011	0.0047	0.0066	0	0.0387	0	0.0078	0.0047	0	0.086	0.32610	T	0.328	0.33666	T	0.011	0.15914	B	0.009	0.14300	B	0.001131	0.40136	U	0.096387	1	0.08975	N	.	.	.	2.74	0.11730	T	-2.75	0.58407	D	0.122	0.14054	-1.0236	0.22541	T	0.009	0.03448	T	9	0.003201753	0.00054	T	.	.	.	0.013	0.01715	.	.	0.0138822411134	0.00435	0.09247728874110794	0.09179	0.0681126580952	0.07629	0.247762322426	0.03536	T	0.174978	0.52439	T	-0.67178	0.00054	T	-0.731203	0.04274	T	0.00739677010414463	0.00085	T	0.607439	0.22904	T	0.07804144	0.17749	0.092954755	0.21932	0.07804144	0.17749	0.092954755	0.21931	-6.631	0.51289	T	.	.	0.075	0.06433	B	.;.	.;.	0.507494	0.08762	5.540	0.56561668799930442	0.05579	0.01286	0.04483	N	AEFGBI	0.029638	0.02833	N	-1.27013903768954	0.04040	0.1815974	-1.37873958083765	0.03480	0.1623922	0.0576636161022018	0.15100	0.625279	0.40028	0	0.627178	0.54094	0	0.563428	0.18855	0	0.59522	0.37078	0	.	.	2.61	-0.88	0.10073	-0.262000	0.08706	-2.551000	0.03618	-1.359000	0.01183	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2619:0.0:0.5283:0.2098	3.056	0.05811	884	0.28482	Metallothionein, vertebrate, metal binding site;Metallothionein, vertebrate, metal binding site	.	.	.	.	rs150778656	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	475.98	49	chr16	56652588	.	G	A	475.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.240e-01;DP=1935;ExcessHet=0.0000;FS=4.249;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.13;ReadPosRankSum=0.992;SOR=0.298	GT:AD:DP:GQ:PL	0/0:102,0:102:99:0,120,1800	20	0	1	0
chr16	56652591	56652591	G	A	exonic	MT1B	.	nonsynonymous SNV	MT1B:NM_005947:exon2:c.G49A:p.G17S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.929	P	0.46	P	0.237	U	1.000	N	.	.	3.02	T	-0.980	T	0.019	T	0.243	0.211	5.138	0.343	-0.379	0.355	11.389	0.127	0.00473216435561	.	.	0.0001	9.61e-05	0.0003	0.0003	0.0002	2.997e-05	0	0.0004	0.0001164	18	154602	rs570563261	3.9e-05	3.967e-05	2.723e-05	5.088e-05	0.0003	3.047e-05	2.783e-05	0.0002	0.0002	2.988e-05	2.236e-05	3.828e-05	5.039e-05	0	0	8.994e-06	0.0002	0.0003	2.626e-05	2.625e-05	2.57e-05	2.685e-05	0.0002	8.14e-06	5.14e-06	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0.0005	0.0002	0.481	0.08212	T	0.624	0.07342	T	0.929	0.51690	P	0.46	0.46423	P	0.236726	0.15801	U	0.509493	1	0.08975	N	.	.	.	3.02	0.08986	T	-0.81	0.49519	N	0.179	0.19325	-0.9804	0.34909	T	0.019	0.08033	T	9	0.048725277	0.04363	T	0.004732	0.11784	T	0.127	0.34888	0.323	0.30387	0.0138822411134	0.00435	0.0874209642461806	0.08675	0.0698682289135	0.07824	0.217635393143	0.01177	T	0.132	0.58059	T	-0.512558	0.00485	T	-0.657875	0.08410	T	0.0300365707174652	0.01994	T	0.270873	0.04565	T	0.02821269	0.02124	0.03975075	0.04141	0.02821269	0.02124	0.03975075	0.04141	-8.818	0.66518	D	.	.	0.077	0.06250	B	.;.	.;.	-0.024985	0.04112	0.973	0.73438765979312348	0.10328	0.02574	0.07120	N	AEFGBI	0.042703	0.06661	N	-1.15617916381434	0.05678	0.2595122	-1.34498157917451	0.03865	0.1811775	0.0539261082800034	0.14954	0.625279	0.40028	0	0.627178	0.54094	0	0.563428	0.18855	0	0.59522	0.37078	0	.	.	2.61	0.343	0.15239	-0.022000	0.12424	-3.215000	0.02964	-2.652000	0.00222	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3434:0.6566:0.0	11.389	0.49041	884	0.28482	Metallothionein, vertebrate, metal binding site;Metallothionein, vertebrate, metal binding site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3772.98	49	chr16	56652591	.	G	A	3772.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.960;DP=1945;ExcessHet=0.0000;FS=1.948;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.01;ReadPosRankSum=-2.280e-01;SOR=0.755	GT:AD:DP:GQ:PL	0/0:102,0:102:99:0,120,1800	20	0	1	0
chr16	56983367	56983367	G	A	exonic	CETP	.	nonsynonymous SNV	CETP:NM_001286085:exon14:c.G1183A:p.V395M	Hyperalphalipoproteinemia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1623164	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.834	P	0.11	B	0.221	U	0.993	N	0	N	2.75	T	-0.993	T	0.012	T	0.174	2.504	14.33	3.16	0.668	0.994	8.409	0.039	0.0509307332073	0.0002	.	9.886e-05	0.0012	0	0	0	0	0	0	7.76e-05	12	154602	rs2228667	4.994e-05	4.994e-05	6.806e-05	3.163e-05	0.0008	4.059e-05	3.734e-05	0.0006	0.0005	0.0008	6.708e-05	0	2.519e-05	0	0.0002	2.698e-05	0.0001	2.319e-05	0.0002	0.0002	0.0003	0.0001	0.0007	0.0002	0.0001	0.0005	0.0005	0.0007	0	6.535e-05	0	0	0	0	1.47e-05	0	0	0.015	0.55530	D	0.027	0.55341	D	0.834	0.46206	P	0.11	0.31460	B	0.220905	0.16140	U	0.497607	0.99285	0.23814	N	0.345	0.11182	N	2.75	0.11622	T	-0.46	0.14978	N	0.184	0.23253	-0.9929	0.31853	T	0.012	0.04510	T	10	0.045701027	0.03673	T	0.050931	0.64450	D	0.039	0.10176	.	.	0.259272394797	0.25527	0.2864631998160851	0.28559	0.180695116647	0.20323	0.392979204655	0.24089	T	0.127807	0.45507	T	-0.532427	0.00372	T	-0.593919	0.13328	T	0.026644460713475	0.01494	T	0.794021	0.46320	T	0.11137051	0.26318	0.11190017	0.26996	0.13747312	0.31828	0.11933966	0.28805	-4.663	0.33222	T	0.13840130564879186	0.15311	0.127	0.26947	B	.;.;.	.;.;.	2.279972	0.29148	18.03	0.99052718801258888	0.51298	0.23192	0.21996	N	AEFDGBI	0.297213	0.40685	N	-0.598034355206392	0.19003	0.9912402	-0.534525571184505	0.21218	1.146784	0.999997189821977	0.74766	0.51972	0.21558	0	0.522029	0.08744	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	3.16	3.16	0.35406	2.211000	0.42465	0.353000	0.17497	-0.177000	0.10537	1.000000	0.71638	0.985000	0.30750	0.080000	0.17246	0.0:0.7577:0.2423:0.0	8.409	0.31791	851	0.35303	Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal;Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal;Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1325.98	34	chr16	56983367	.	G	A	1325.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=827;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.12;ReadPosRankSum=2.30;SOR=0.689	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1384	20	0	1	0
chr16	56983380	56983380	A	G	exonic	CETP	.	nonsynonymous SNV	CETP:NM_001286085:exon14:c.A1196G:p.D399G	Hyperalphalipoproteinemia, Autosomal dominant	.	0	1518	3	1	0	5	0.0016442	.	.	32566	Hyperalphalipoproteinemia_1|not_provided	MedGen:C3149462,OMIM:143470|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.584	P	0.542	P	0.019	U	0.665	N	0.805	L	2.67	T	-1.105	T	0.018	T	0.249	1.729	11.74	3.16	1.440	4.599	7.982	0.134	.	0.0002	0.0061901	0.0024	0	8.639e-05	0.0317	0.0002	0.0001	0	0.0002	0.0022315	345	154602	rs2303790	0.0011	0.0011	0.0011	0.0010	0.0341	0.0010	0.0010	0.0326	0.0320	0	2.236e-05	0	0.0341	0.0004	0.0003	8.094e-05	0.0010	0.0002	0.0010	0.0010	0.0008	0.0012	0.0271	0.0009	0.0008	0.0234	0.0220	2.405e-05	0	6.536e-05	0	0.0271	0.0004	0	8.819e-05	0	0.0002	0.016	0.56456	D	0.008	0.69154	D	0.584	0.38894	P	0.542	0.48916	P	0.019147	0.27321	U	0.320861	0.664716	0.30417	N	1.955	0.52871	M	2.67	0.12473	T	-3.68	0.71882	D	0.612	0.71942	-1.1045	0.03588	T	0.018	0.07282	T	10	0.006863296	0.00156	T	.	.	.	0.134	0.36365	.	.	0.513112959101	0.50952	0.632089490351366	0.63142	0.517666413245	0.49627	0.362351566553	0.19729	T	0.341109	0.71005	T	-0.529483	0.00387	T	-0.508967	0.21421	T	0.0708451238476006	0.08768	T	0.869813	0.57430	D	0.29935724	0.52847	0.23115389	0.48239	0.3433861	0.56548	0.27276278	0.53189	-6.959	0.56933	T	0.621083938904807	0.68947	0.180	0.46458	B	.;.;.	.;.;.	3.036148	0.40690	21.2	0.99588419701121311	0.73454	0.78007	0.38425	D	AEFDGBI	0.524183	0.54748	D	-0.170055832406883	0.34385	1.961985	-0.149304520487397	0.33435	1.912536	0.999999384905705	0.74766	0.51972	0.21558	0	0.522029	0.08744	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	3.16	3.16	0.35406	4.230000	0.58432	4.733000	0.44564	0.754000	0.88378	1.000000	0.71638	0.964000	0.29435	0.168000	0.20914	1.0:0.0:0.0:0.0	7.982	0.29349	851	0.35303	Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal;Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal;Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	863.98	34	chr16	56983380	.	A	G	863.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=815;ExcessHet=0.0000;FS=1.624;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.07;ReadPosRankSum=0.207;SOR=0.594	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1384	20	0	1	0
chr16	57025490	57025490	C	T	exonic	NLRC5	.	nonsynonymous SNV	NLRC5:NM_001330552:exon6:c.C547T:p.R183W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.997	D	0.821	P	0.008	N	0.999	N	2.015	M	-0.67	T	-0.599	T	0.418	T	0.533	2.629	14.75	1.86	1.202	-0.043	8.625	0.383	0.0862862387736	.	.	2.516e-05	0	0	0.0002	0	1.514e-05	0	0	1.94e-05	3	154602	rs750291867	8.897e-06	8.893e-06	8.171e-06	9.631e-06	1.161e-05	4.97e-06	3.83e-06	3.1e-06	2.24e-06	0	0	0.0001	0	0	0	7.197e-06	1.657e-05	1.161e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	0.0004	5.24e-06	2.45e-06	6.825e-05	2.856e-05	0	0	0	0	0.0004	0	0	1.47e-05	0	0	0.062	0.37536	T	0.082	0.41573	T	0.997	0.70673	D	0.821	0.59116	P	0.007881	0.31148	N	0.000000	0.998576	0.22064	N	2.19	0.61577	M	-0.67	0.74477	T	-0.1	0.08495	N	0.217	0.26354	-0.5987	0.64871	T	0.418	0.76401	T	10	0.24472359	0.41708	T	0.086286	0.74706	D	0.383	0.70029	0.551	0.66716	0.549714264244	0.54628	0.27681251394833656	0.27594	0.269377542869	0.29453	0.339226126671	0.16322	T	0.080569	0.36394	T	-0.170409	0.25171	T	-0.256855	0.49138	T	0.641328871250153	0.38093	D	0.784022	0.42156	T	0.058168888	0.11671	0.03753494	0.03425	0.058168888	0.11670	0.03753494	0.03425	-5.101	0.37918	T	.	.	0.130	0.36053	B	.;.;.	.;.;.	4.023658	0.59445	24.1	0.99898717429402517	0.97124	0.39998	0.26338	N	AEFBCI	0.349811	0.44347	N	0.0341195464698621	0.43413	2.634727	-0.097763099291533	0.35483	2.053376	0.993522611969281	0.33249	0.615465	0.37627	0	0.577304	0.33150	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.28	1.86	0.24489	-0.079000	0.11321	-0.146000	0.11468	-0.176000	0.10722	0.087000	0.22510	0.031000	0.21272	0.012000	0.09680	0.2612:0.6163:0.1224:0.0	8.625	0.33043	917	0.20147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1541.98	34	chr16	57025490	.	C	T	1541.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.72;DP=819;ExcessHet=0.0000;FS=0.796;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.23;ReadPosRankSum=-8.800e-02;SOR=0.871	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1344	20	0	1	0
chr16	57061497	57061497	G	A	exonic	NLRC5	.	nonsynonymous SNV	NLRC5:NM_001384958:exon29:c.G3862A:p.G1288S	.	.	417	1085	19	1	0	21	0.00958466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	T	0.043	B	0.008	B	.	.	1.000	N	0.805	L	5.52	T	-1.011	T	0.031	T	0.346	0.786	8.146	-6.84	-0.983	-0.494	2.167	0.009	.	0.0006	0.00519169	0.0024	0.0002	0.0008	0	0.0002	0.0013	0.0022	0.0114	0.0022251	344	154602	rs140644178	0.0014	0.0014	0.0010	0.0017	0.0097	0.0013	0.0013	0.0092	0.0090	0.0003	0.0013	0.0013	2.519e-05	0	0.0043	0.0008	0.0019	0.0097	0.0012	0.0012	0.0011	0.0014	0.0149	0.0011	0.0010	0.0121	0.0111	0.0001	0	0.0024	0.0006	0	0	0.0034	0.0009	0.0038	0.0149	0.581	0.09430	T	0.763	0.14961	T	0.009	0.15093	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.41	0.12415	N	0.59	0.53943	T	-0.55	0.16799	N	0.108	0.09349	-1.0114	0.26478	T	0.031	0.13418	T	9	0.0045095086	0.00093	T	.	.	.	0.027	0.05988	.	.	0.178374595973	0.17440	0.1994328234203873	0.19860	0.244945792748	0.27014	0.247742697597	0.03533	T	0.002731	0.11287	T	-0.495399	0.00607	T	-0.476421	0.24828	T	0.00213010454997645	0.00022	T	0.740526	0.36808	T	0.032330096	0.03238	0.03416993	0.02437	0.032330096	0.03238	0.03416993	0.02437	-4.083	0.25039	T	.	.	0.091	0.16275	B	.;.;.;.;.	.;.;.;.;.	0.390010	0.07614	4.278	0.93016140442936501	0.22612	0.03277	0.08320	N	ALL	0.039478	0.05739	N	-0.919301168992132	0.10392	0.4963277	-1.11312710605194	0.07449	0.362362	0.999999999999988	0.74766	0.740787	0.97801	0	0.697927	0.68747	0	0.767554	0.98243	0	0.669	0.65921	0	.	.	4.55	-6.84	0.01527	-0.443000	0.06935	-0.487000	0.08883	-0.121000	0.13915	0.000000	0.06391	0.000000	0.08366	0.032000	0.13371	0.3196:0.3866:0.1737:0.1202	2.167	0.03605	824	0.40336	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2337.11	36	chr16	57061497	.	G	A	2337.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.47;DP=842;ExcessHet=0.1072;FS=0.569;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.28;ReadPosRankSum=0.022;SOR=0.636	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1344	19	0	2	0
chr16	57379748	57379748	C	T	exonic	CX3CL1	.	nonsynonymous SNV	CX3CL1:NM_002996:exon2:c.C185T:p.A62V,	.	.	425	1090	7	0	0	7	0.00320073	.	.	703750	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.943	P	0.574	P	0.000	D	1.000	N	3.47	M	1.81	T	-0.827	T	0.097	T	0.778	3.482	17.81	3.2	2.128	0.962	10.242	0.248	0.0331361722118	0.0048	0.00159744	0.0058	0.0011	0.0009	0.0002	0.0077	0.0088	0.0055	0.0021	0.0057179	884	154602	rs62037084	0.0062	0.0062	0.0062	0.0061	0.0072	0.0061	0.0060	0.0071	0.0070	0.0009	0.0011	0.0008	0.0001	0.0054	0.0050	0.0072	0.0049	0.0028	0.0046	0.0046	0.0047	0.0044	0.0080	0.0043	0.0042	0.0075	0.0072	0.0009	0	0.0014	0.0012	0	0.0062	0	0.0080	0.0061	0.0017	0.069	0.36709	T	0.124	0.35582	T	0.943	0.53072	P	0.574	0.49998	P	0.000020	0.62929	D	0.000000	0.631516	0.81001	D	3.36	0.91202	M	1.81	0.25182	T	-3.26	0.65397	D	0.469	0.50508	-0.8270	0.53493	T	0.097	0.36496	T	10	0.010627687	0.00236	T	0.033136	0.54769	D	0.248	0.55615	.	.	0.168254554758	0.16434	0.9178716987422061	0.91763	1.01601232605	0.74955	0.369462907314	0.20755	T	0.379775	0.74245	T	-0.275595	0.11140	T	-0.162393	0.58135	T	0.0666939952582538	0.08179	T	0.632437	0.25008	T	0.39072108	0.60083	0.23893361	0.49229	0.39072108	0.60083	0.23893361	0.49228	-9.121	0.68472	D	.	.	0.617	0.78182	P	.;.;.	.;.;.	2.286698	0.29245	18.06	0.998564168439113	0.93548	0.28843	0.23663	N	AEFDGBHCI	0.079207	0.15995	N	0.182270664644125	0.50348	3.22566	-0.00967027872240318	0.39277	2.326351	1.0	0.98316	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.550183	0.17644	0	.	.	3.2	3.2	0.35826	0.970000	0.28980	0.717000	0.20982	0.548000	0.25860	0.382000	0.26022	0.579000	0.25612	0.012000	0.09680	0.0:1.0:0.0:0.0	10.242	0.42494	846	0.36215	Chemokine interleukin-8-like domain|Chemokine interleukin-8-like domain|CX3C chemokine domain;Chemokine interleukin-8-like domain|Chemokine interleukin-8-like domain|CX3C chemokine domain;Chemokine interleukin-8-like domain|Chemokine interleukin-8-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1986.98	34	chr16	57379748	.	C	T	1986.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.471e+00;DP=896;ExcessHet=0.0000;FS=1.861;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.74;ReadPosRankSum=0.730;SOR=0.544	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1269	20	0	1	0
chr16	57382560	57382560	C	T	exonic	CX3CL1	.	nonsynonymous SNV	CX3CL1:NM_001304392:exon2:c.C467T:p.P156L	.	.	421	1096	5	0	0	5	0.00227583	.	.	714993	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.088	B	0.005	B	0.000	N	1.000	N	0	N	3.7	T	-0.968	T	0.007	T	0.094	0.839	8.387	1.29	0.304	0.269	2.536	0.091	0.00439106112767	0.0036	0.00139776	0.0030	0.0004	0.0029	0.0001	0.0024	0.0046	0.0045	0	0.0029819	461	154602	rs137886321	0.0033	0.0033	0.0033	0.0032	0.0040	0.0032	0.0032	0.0037	0.0036	0.0004	0.0022	0.0038	0	0.0031	0.0040	0.0038	0.0029	6.956e-05	0.0030	0.0030	0.0029	0.0031	0.0047	0.0027	0.0027	0.0043	0.0041	0.0005	0.0011	0.0038	0.0043	0	0.0030	0	0.0047	0.0033	0	0.059	0.37966	T	0.104	0.38596	T	0.088	0.25022	B	0.005	0.11217	B	0.000061	0.00414	N	21.798200	1	0.08975	N	0	0.06538	N	3.7	0.13434	T	-1.62	0.38924	N	0.072	0.05414	-0.9683	0.37551	T	0.007	0.02244	T	10	0.0042164624	0.00084	T	0.004391	0.10718	T	0.091	0.26358	.	.	0.043077524339	0.03247	0.10863226829346284	0.10792	0.310891961663	0.33396	0.245358467102	0.03295	T	0.274866	0.64738	T	-0.676851	0.00050	T	-0.741998	0.03807	T	0.00579047969745276	0.00063	T	0.537446	0.18074	T	0.04769897	0.08195	0.03955536	0.04075	0.04769897	0.08194	0.03955536	0.04075	-3.855	0.21629	T	.	.	0.079	0.10497	B	.;.;.	.;.;.	0.767465	0.11374	7.988	0.42212572945508198	0.03096	0.03944	0.09342	N	AEFDGBCI	.	.	.	-1.12769086801623	0.06155	0.2825768	-1.1299363594426	0.07133	0.3458407	0.99045781639145	0.32159	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.45	1.29	0.20717	0.150000	0.16082	1.242000	0.25113	-0.150000	0.12128	0.000000	0.06391	0.003000	0.18671	0.000000	0.00833	0.1064:0.1944:0.5076:0.1916	2.536	0.04427	846	0.36215	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	2644.68	35	chr16	57382560	.	C	T	2644.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.67;DP=857;ExcessHet=0.3300;FS=4.703;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=-1.560e-01;SOR=0.616	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1000	18	0	3	0
chr16	57473465	57473465	G	A	exonic	DOK4	.	nonsynonymous SNV	DOK4:NM_001330556:exon7:c.C1010T:p.S337L	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.921	P	0.096	B	0.142	N	0.994	D	1.1	L	-2.93	D	0.077	D	0.556	D	0.581	4.085	21.0	5.4	2.531	6.529	16.342	0.418	0.0659301154868	.	.	0.0001	0	0.0003	0	0	7.503e-05	0	0.0004	9.06e-05	14	154602	rs531274848	9.85e-05	9.85e-05	8.439e-05	0.0001	0.0004	8.511e-05	7.981e-05	0.0003	0.0002	8.961e-05	6.708e-05	0	0	0	0	8.903e-05	9.934e-05	0.0004	4.596e-05	4.593e-05	6.425e-05	2.686e-05	0.0002	2.108e-05	1.526e-05	1.973e-05	1.125e-05	4.81e-05	0	0	0	0	0	0	5.882e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.921	0.51088	P	0.096	0.30313	B	0.142054	0.18256	N	0.532223	0.993737	0.42035	D	1.39	0.34934	L	-4.13	0.96745	D	-1.63	0.39119	N	0.378	0.51494	0.077	0.83760	D	0.556	0.83785	D	10	0.18586212	0.34025	T	0.06593	0.69726	D	0.418	0.72780	0.205	0.12076	0.99993699625	0.99993	0.4171417788315129	0.41630	0.925374099093	0.71617	0.679306507111	0.64168	T	0.08467	0.37330	T	0.0193523	0.54295	T	0.126281	0.78650	D	0.140711999012405	0.16337	T	0.918608	0.70760	D	0.15906635	0.35752	0.1506509	0.35520	0.15906635	0.35751	0.1506509	0.35520	-4.518	0.31123	T	.	.	0.172	0.37652	B	.;.;.	.;.;.	5.125529	0.85752	28.7	0.99871024342409986	0.94902	0.91778	0.54243	D	AEFDBHCI	0.810556	0.73377	D	0.302942265033966	0.56299	3.794471	0.411979064427184	0.62308	4.444321	0.999999999996919	0.74766	0.722319	0.85440	0	0.552637	0.17590	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	5.4	5.4	0.77957	7.380000	0.78983	11.780000	0.96086	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	16.342	0.82917	626	0.65439	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	933.98	35	chr16	57473465	.	G	A	933.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=771;ExcessHet=0.0000;FS=3.136;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=-4.110e-01;SOR=1.088	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1188	20	0	1	0
chr16	57528715	57528715	G	A	exonic	CCDC102A	.	nonsynonymous SNV	CCDC102A:NM_033212:exon2:c.C463T:p.R155C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.005	B	0.001	B	0.078	N	0.632	D	-0.345	N	0.86	T	-1.005	T	0.076	T	0.293	2.788	15.28	1.97	0.935	1.730	10.521	0.089	0.719751257531	.	.	0.0070	0	.	0	.	0	0	0.0084	5.17e-05	8	154602	rs752125279	0.0003	0.0003	0.0003	0.0003	0.0019	0.0003	0.0003	0.0015	0.0014	0.0001	0	0	0	0	0.0004	0.0003	0.0002	0.0019	0.0001	0.0001	0.0002	6.978e-05	0.0006	9.554e-05	7.963e-05	0.0002	0.0001	2.435e-05	0	0	0	0	0	0	0.0003	0	0.0006	0.003	0.68238	D	0.063	0.45110	T	0.005	0.12996	B	0.001	0.04355	B	0.078392	0.02326	N	1.963630	0.632435	0.32802	D	-0.345	0.03330	N	0.86	0.46777	T	-3.22	0.64939	D	0.322	0.36254	-1.0051	0.28427	T	0.076	0.30397	T	10	0.008516163	0.00193	T	0.719751	0.97731	D	0.089	0.25827	.	.	0.330589388543	0.32661	0.2604755777176179	0.25960	2.19199492999	0.95646	0.933024644852	0.99149	D	0.104266	0.41368	T	-0.388486	0.02751	T	-0.48343	0.24081	T	0.166950327741942	0.18370	T	0.724428	0.33821	T	0.2144709	0.43854	0.14888753	0.35177	0.2144709	0.43854	0.14888753	0.35176	-9.297	0.69588	D	.	.	0.278	0.51094	B	.	.	5.298078	0.88949	29.8	0.99271597330678563	0.57559	0.86879	0.46259	D	AEFDBHCI	0.249049	0.36935	N	-0.466001850324522	0.23200	1.244234	-0.293113328792187	0.28325	1.578484	0.999999259197974	0.74766	0.646311	0.45356	0	0.633656	0.55848	0	0.519653	0.09787	0	0.699875	0.68795	0	.	.	4.17	1.97	0.25278	2.584000	0.45768	5.818000	0.50061	0.542000	0.25261	0.979000	0.35152	1.000000	0.68203	0.955000	0.50612	0.0:0.0:0.6391:0.3609	10.521	0.44107	788	0.46569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	207.03	7	chr16	57528715	.	G	A	207.03	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.018;DP=336;ExcessHet=0.0000;FS=2.363;InbreedingCoeff=-0.0278;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.79;ReadPosRankSum=-7.090e-01;SOR=1.288	GT:AD:DP:GQ:PL	0/0:23,0:23:63:0,63,645	20	0	1	0
chr16	57728574	57728574	G	A	exonic	DRC7	.	nonsynonymous SNV	DRC7:NM_001289163:exon15:c.G2186A:p.R729H	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.948	P	0.566	P	0.000	D	1.000	D	2.705	M	0.76	T	-0.493	T	0.239	T	0.822	3.590	18.28	5.15	2.399	4.280	17.182	0.202	0.0233084291245	7.7e-05	0.000599042	0.0004	0.0001	0.0003	0	0	6.01e-05	0	0.0025	0.0002717	42	154602	rs114443631	0.0001	0.0001	5.78e-05	0.0002	0.0021	0.0001	0.0001	0.0019	0.0018	3.051e-05	2.33e-05	0	2.572e-05	0	0.0004	9.995e-06	6.726e-05	0.0021	7.223e-05	7.218e-05	6.425e-05	8.058e-05	0.0012	3.969e-05	3.126e-05	0.0005	0.0004	4.814e-05	0	0	0	0	0	0	4.41e-05	0	0.0012	0.107	0.29554	T	0.109	0.38891	T	0.948	0.53620	P	0.566	0.49756	P	0.000001	0.62929	D	0.057300	0.999987	0.54805	D	.	.	.	0.76	0.49919	T	-2.76	0.61722	D	0.406	0.49602	-0.4932	0.68894	T	0.239	0.60691	T	10	0.020771772	0.00485	T	0.023308	0.46264	T	0.202	0.48754	.	.	0.519024713989	0.51545	0.5750153691630128	0.57430	0.641479766235	0.57742	0.603856682777	0.53448	T	0.116803	0.43641	T	-0.221157	0.17837	T	-0.0960009	0.63706	T	0.126302118567707	0.15036	T	0.917708	0.70434	D	0.33171907	0.55612	0.23867407	0.49196	0.33171907	0.55612	0.23867407	0.49195	-8.929	0.67239	D	.	.	0.131	0.33755	B	.;.;.	.;.;.	4.522939	0.70936	25.6	0.99848524683693862	0.92838	0.77550	0.38142	D	AEFCI	0.704155	0.65996	D	0.553973635034548	0.70325	5.484902	0.552281294528637	0.71554	5.672905	0.999999807068126	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.15	5.15	0.70287	4.651000	0.61143	9.850000	0.81982	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	17.182	0.86737	867	0.32089	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1510.98	36	chr16	57728574	.	G	A	1510.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.720e-01;DP=817;ExcessHet=0.0000;FS=1.612;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.67;ReadPosRankSum=1.57;SOR=0.878	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1182	20	0	1	0
chr16	57813723	57813723	T	0	exonic	LOC388282	.	.	.	.	.	519	727	164	25	87	301	0.128297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2294.46	37	chr16	57813723	.	T	C,*	2294.46	.	AC=2,2;AF=0.048,0.048;AN=42;BaseQRankSum=0.819;DP=938;ExcessHet=0.6776;FS=1.309;InbreedingCoeff=-0.1053;MLEAC=2,2;MLEAF=0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=6.87;ReadPosRankSum=0.332;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0,0:37:99:.:.:0,111,1103,111,1103,1103	17	0	2	0
chr16	57813880	57813880	A	G	exonic	LOC388282	.	nonsynonymous SNV	LOC388282:NM_001278081:exon2:c.A295G:p.R99G,	.	.	522	966	32	2	0	36	0.0182927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00778754	.	.	.	.	.	.	.	.	0.0117181	305	26028	rs144914335	0.0143	0.0084	0.0145	0.0140	0.0206	0.0141	0.0140	0.0188	0.0181	0.0014	0.0030	0.0134	0.0006	0.0069	0.0204	0.0144	0.0164	0.0206	0.0088	0.0088	0.0091	0.0084	0.0206	0.0084	0.0082	0.0173	0.0161	0.0019	0.0329	0.0048	0.0115	0.0002	0.0056	0.0103	0.0137	0.0109	0.0206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	892.98	37	chr16	57813880	.	A	G	892.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.659e+00;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.33;ReadPosRankSum=1.54;SOR=0.635	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1103	20	0	1	0
chr16	57884192	57884192	G	A	exonic	CNGB1	.	nonsynonymous SNV	CNGB1:NM_001286130:exon33:c.C3710T:p.P1237L	Retinitis pigmentosa 45, Autosomal recessive	.	1	1518	3	0	0	3	0.000987167	.	.	937509	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.46	T	0.001	B	0.002	B	0.071	N	1.000	N	1.1	L	-3.94	D	-0.332	T	0.669	D	0.179	-0.174	3.150	2.27	0.217	1.350	4.606	0.176	0.0456708885617	.	0.000399361	0.0003	0.0001	0	0	0	0.0002	0.0023	0.0015	0.0002587	40	154602	rs372109962	0.0001	0.0001	8.985e-05	0.0002	0.0010	0.0001	0.0001	0.0008	0.0007	0.0001	4.472e-05	0	0	0	0.0002	7.285e-05	0.0002	0.0010	9.848e-05	9.843e-05	7.71e-05	0.0001	0.0012	6.001e-05	4.876e-05	0.0005	0.0004	0.0001	0	0	0	0	0	0.0034	2.94e-05	0	0.0012	0.4	0.11156	T	0.206	0.27056	T	0.0	0.02946	B	0.001	0.04355	B	0.070759	0.21518	N	0.438852	1	0.08975	N	1.285	0.32305	L	-3.94	0.96308	D	-2.09	0.47683	N	0.089	0.14622	-0.3324	0.74064	T	0.669	0.88512	D	10	0.009383082	0.00212	T	0.045671	0.62094	D	0.176	0.44373	0.209	0.12639	0.42805410278	0.42423	0.11175990432766601	0.11104	0.0965671410047	0.10902	0.392644017935	0.24041	T	0.190012	0.54442	T	-0.285511	0.10092	T	-0.218271	0.52903	T	0.00808826757688509	0.00096	T	0.490951	0.15096	T	0.032194257	0.03199	0.06001108	0.11357	0.032194257	0.03198	0.06001108	0.11356	-4.767	0.34204	T	.	.	0.096	0.15385	B	.;.	.;.	1.233373	0.16282	12.44	0.83680420757806695	0.14860	0.09906	0.15554	N	AEFDBI	0.094653	0.19136	N	-1.00442364736314	0.08511	0.3993598	-0.990980546550644	0.09986	0.5002037	0.999776950349235	0.42865	0.59774	0.34471	0	0.59043	0.45803	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	5.38	2.27	0.27501	1.256000	0.32524	3.084000	0.36251	-0.123000	0.13640	0.202000	0.24332	0.249000	0.23905	0.011000	0.09372	0.188:0.0:0.6385:0.1735	4.606	0.11766	888	0.27761	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	705.98	34	chr16	57884192	.	G	A	705.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=815;ExcessHet=0.0000;FS=0.782;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.13;ReadPosRankSum=-1.494e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1143	20	0	1	0
chr16	57884336	57884336	G	C	exonic	CNGB1	.	nonsynonymous SNV	CNGB1:NM_001286130:exon33:c.C3566G:p.S1189C	Retinitis pigmentosa 45, Autosomal recessive	.	22	1486	14	0	0	14	0.00468855	.	.	325986	not_provided|Retinitis_pigmentosa_45|not_specified|Retinitis_pigmentosa	MedGen:C3661900|MONDO:MONDO:0013413,MedGen:C3151066,OMIM:613767,Orphanet:791|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.991	D	0.892	P	0.005	N	1.000	N	1.04	L	-4.15	D	0.339	D	0.839	D	0.234	1.700	11.64	0.709	0.682	1.118	.	0.315	.	0.0005	0.00319489	0.0020	0.0001	8.983e-05	0.0001	0.0002	0.0009	0	0.0103	0.0016623	257	154602	rs201186180	0.0013	0.0013	0.0010	0.0016	0.0122	0.0013	0.0012	0.0116	0.0113	9.209e-05	0.0005	0.0019	2.623e-05	0	0.0025	0.0006	0.0014	0.0122	0.0012	0.0024	0.0011	0.0012	0.0162	0.0010	0.0009	0.0128	0.0116	0.0001	0	0.0007	0.0025	0	0	0	0.0010	0.0029	0.0162	0.008	0.58626	D	0.013	0.63109	D	0.991	0.64070	D	0.892	0.63276	P	0.004813	0.33369	N	0.210965	1	0.08975	N	1.1	0.28011	L	-4.15	0.96826	D	-1.7	0.40468	N	0.149	0.16447	0.339	0.88171	D	0.839	0.94631	D	9	0.0062243044	0.00140	T	.	.	.	0.315	0.63694	.	.	0.370608029945	0.36667	0.22524337755772522	0.22439	0.226183651891	0.25174	0.569940984249	0.48669	T	0.116772	0.43635	T	-0.263442	0.12500	T	-0.141798	0.59963	T	0.0158235121349162	0.00370	T	0.253475	0.03884	T	0.22752666	0.45455	0.19974965	0.43872	0.21010414	0.43297	0.23260987	0.48425	-6.538	0.50579	T	.	.	0.090	0.12560	B	.;.	.;.	2.575790	0.33383	19.32	0.98159399513066947	0.38755	0.18044	0.20096	N	AEFDBI	0.053342	0.09602	N	-0.623392752778048	0.18242	0.9455637	-0.845205716663947	0.13403	0.6950866	0.999657027149526	0.41424	0.59774	0.34471	0	0.59043	0.45803	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	0.709	0.709	0.17307	1.519000	0.35495	0.592000	0.19832	0.347000	0.19874	0.075000	0.22209	0.035000	0.21413	0.011000	0.09372	.	.	.	888	0.27761	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	609.98	40	chr16	57884336	.	G	C	609.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.437e+00;DP=723;ExcessHet=0.0000;FS=3.366;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.43;ReadPosRankSum=-9.960e-01;SOR=0.238	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1143	20	0	1	0
chr16	58403263	58403263	G	A	exonic	GINS3	.	nonsynonymous SNV	GINS3:NM_022770:exon2:c.G352A:p.G118R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	1.0	D	0.997	D	0.000	D	1.000	D	0.78	N	2.34	T	-1.132	T	0.075	T	0.778	3.971	20.3	5.86	2.937	6.150	19.551	0.192	0.0294674584139	0.0008	0.000399361	0.0004	0.0002	0.0002	0	0	0.0006	0.0011	0	0.0003687	57	154602	rs148150477	0.0006	0.0006	0.0006	0.0005	0.0007	0.0005	0.0005	0.0007	0.0006	2.987e-05	0.0002	0	0	0	0	0.0007	0.0004	1.159e-05	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0001	0	0.0002	0	0	0	0	0.0006	0	0	0.141	0.25560	T	0.223	0.25670	T	0.985	0.61118	D	0.317	0.41633	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.085	0.27262	L	2.34	0.16351	T	-0.91	0.24460	N	0.414	0.45426	-1.1318	0.01698	T	0.075	0.30179	T	10	0.091691375	0.16084	T	0.029467	0.51971	D	0.192	0.47115	0.554	0.67133	0.250579442822	0.24687	0.7904237355566981	0.78994	0.405184930583	0.41409	0.713505506516	0.69101	T	0.024439	0.18465	T	-0.226468	0.17117	T	-0.196639	0.54965	T	0.0529470582550342	0.06009	T	0.918208	0.70605	D	0.6142513	0.73456	0.39989963	0.64541	0.6142513	0.73457	0.39989963	0.64541	-1.455	0.01674	T	.	.	0.361	0.57305	A	.;.	.;.	3.956664	0.58003	23.9	0.99862740480059176	0.94093	0.97971	0.78532	D	AEFBI	0.777259	0.71012	D	0.480161013294722	0.65932	4.885204	0.567976467320301	0.72657	5.844538	0.999999999999966	0.74766	0.758104	0.99027	0	0.724815	0.89359	0	0.709663	0.75317	0	0.665031	0.64506	0	.	.	5.86	5.86	0.93936	6.232000	0.72264	6.650000	0.56213	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:1.0:0.0	19.551	0.95311	866	0.32446	GINS subunit, domain A;GINS subunit, domain A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1365.98	33	chr16	58403263	.	G	A	1365.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.503;DP=793;ExcessHet=0.0000;FS=3.599;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=-1.921e+00;SOR=0.400	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1308	20	0	1	0
chr16	58680098	58680098	T	C	exonic	SLC38A7	.	nonsynonymous SNV	SLC38A7:NM_001308384:exon2:c.A29G:p.Y10C	.	.	430	1087	5	0	0	5	0.00229463	.	.	726722	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.786	P	0.386	B	0.775	N	1.000	N	0.695	N	2.94	T	-0.964	T	0.012	T	0.256	1.376	10.53	2.28	0.094	1.069	7.751	0.041	.	0.0002	0.00638978	0.0050	9.98e-05	0.0107	0.0115	0.0288	0.0020	0.0091	0.0007	0.003978	615	154602	rs151075190	0.0019	0.0020	0.0019	0.0019	0.0106	0.0019	0.0018	0.0097	0.0094	0	0.0106	0	0.0091	0.0287	0	0.0003	0.0020	0.0007	0.0033	0.0033	0.0023	0.0044	0.0133	0.0031	0.0030	0.0108	0.0099	2.405e-05	0	0.0050	0	0.0133	0.0268	0	0.0010	0.0019	0.0015	0.083	0.56456	T	0.169	0.34959	T	0.187	0.29285	B	0.042	0.24114	B	0.775231	0.06621	N	1.099490	1	0.08975	N	1.935	0.51832	L	2.94	0.35405	T	0.04	0.31375	N	0.236	0.36254	-0.9644	0.38330	T	0.012	0.04558	T	9	0.0024581552	0.00037	T	.	.	.	0.041	0.10877	.	.	0.280181792013	0.27631	0.4050142347051937	0.40417	0.455770394439	0.45246	0.339849948883	0.16416	T	0.007995	0.07364	T	-0.48182	0.00722	T	-0.455482	0.27092	T	0.0178480891042658	0.00513	T	0.816718	0.47377	T	0.058463123	0.11763	0.038082734	0.03600	0.058463123	0.11763	0.038082734	0.03600	-3.508	0.16543	T	.	.	0.072	0.11027	B	.;.;.;.;.;.	.;.;.;.;.;.	1.752248	0.22289	15.56	0.98803772818468916	0.46493	0.66587	0.33130	D	AEFDGBI	.	.	.	-0.572137166162692	0.19794	1.038792	-0.580259844611699	0.20008	1.076068	0.674971956206263	0.22416	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.81	2.28	0.27583	1.341000	0.33512	1.920000	0.29703	0.660000	0.55035	0.906000	0.31575	0.960000	0.29291	0.474000	0.28430	0.1381:0.0:0.1314:0.7305	7.751	0.28062	509	0.75304	.;.;.;.;.;.	.	.	.	.	rs151075190	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	790.98	38	chr16	58680098	.	T	C	790.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.070e-01;DP=801;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=-8.210e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr16	61727185	61727185	A	G	exonic	CDH8	.	nonsynonymous SNV	CDH8:NM_001796:exon9:c.T1445C:p.V482A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.987	D	0.963	D	0.000	D	1.000	D	2.63	M	0.15	T	-0.115	T	0.415	T	0.763	4.756	26.6	5.75	2.192	8.599	16.059	0.404	0.0389740197732	.	.	4.97e-05	0	0	0	0.0002	7.524e-05	0	0	4.53e-05	7	154602	rs762899072	4.799e-05	4.857e-05	4.093e-05	5.513e-05	0.0019	3.868e-05	3.548e-05	0.0011	0.0008	0	0	0	0	9.372e-05	0.0019	4.415e-05	6.644e-05	1.162e-05	4.629e-05	4.599e-05	3.881e-05	5.412e-05	5.941e-05	2.121e-05	1.535e-05	1.986e-05	1.134e-05	2.412e-05	0	0	0	0	9.414e-05	0.0034	5.941e-05	0	0	0.015	0.52492	D	0.028	0.54934	D	0.93	0.51791	P	0.819	0.59018	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.9	0.83903	M	0.15	0.60734	T	-2.88	0.60507	D	0.805	0.80083	-0.1151	0.79749	T	0.415	0.76232	T	10	0.72622377	0.73991	D	0.038974	0.58541	D	0.404	0.71714	0.662	0.79996	0.538816343342	0.53533	0.6049852163813726	0.60429	1.28626484683	0.82670	0.760034143925	0.75934	T	0.103897	0.78163	T	0.0278209	0.55431	T	0.0278881	0.72140	D	0.871043980121613	0.52094	D	0.845915	0.52533	T	0.5229614	0.68430	0.45141846	0.68082	0.5229614	0.68431	0.45141846	0.68083	-12.163	0.85636	D	.	.	0.774	0.77190	P	.;.;.;.	.;.;.;.	5.011777	0.83234	28.0	0.9987238664647442	0.94989	0.98689	0.85611	D	AEFI	0.920945	0.89366	D	0.839532130120434	0.88505	9.603422	0.822995466258558	0.91343	10.83971	0.99824273644282	0.36633	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.564101	0.26826	0	.	.	5.75	5.75	0.90390	8.586000	0.90592	11.242000	0.90457	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.059	0.80628	677	0.60274	Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1252.98	34	chr16	61727185	.	A	G	1252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.457;DP=834;ExcessHet=0.0000;FS=2.772;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-4.460e-01;SOR=1.085	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr16	64948685	64948685	C	A	exonic	CDH11	.	nonsynonymous SNV	CDH11:NM_001308392:exon13:c.G1997T:p.R666I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	.	.	0.33	T	-0.975	T	0.129	T	0.072	1.176	9.782	-7.27	-2.917	-0.097	11.798	0.164	0.0094654037705	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs768409959	6.871e-07	2.053e-06	1.366e-06	0	9.017e-07	0	0	.	.	0	0	0	0	0	0	9.017e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.33	0.58323	T	-2.16	0.48850	N	0.228	0.25622	-0.9753	0.36059	T	0.129	0.43787	T	8	0.12868133	0.24479	T	0.009465	0.24786	T	0.164	0.42212	0.575	0.69957	0.411411441165	0.40760	.	.	.	.	.	.	.	.	.	.	-0.259695	0.12936	T	-0.610811	0.11918	T	0.0964033924645899	0.11956	T	0.40416	0.10358	T	.	.	.	.	.	.	.	.	-3.039	0.10607	T	.	.	0.151	0.33458	B	.	.	0.026679	0.04469	1.187	0.89913335390322258	0.19213	0.01119	0.04084	N	AEFBI	0.040207	0.05947	N	-1.62783212799626	0.01132	0.0491679	-1.79670344964322	0.00770	0.03432799	0.999999891180091	0.74766	0.600919	0.35232	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620204	0.46100	0	.	.	3.64	-7.27	0.01312	-0.098000	0.10993	-2.611000	0.03550	-1.148000	0.01430	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.2722:0.6147:0.1131:0.0	11.798	0.51384	543	0.72751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1317.98	38	chr16	64948685	.	C	A	1317.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.30;ReadPosRankSum=0.132;SOR=0.700	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1164	20	0	1	0
chr16	64988342	64988342	C	T	exonic	CDH11	.	nonsynonymous SNV	CDH11:NM_001330576:exon6:c.G436A:p.V146I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.789	P	0.128	B	0.000	D	1.000	D	-0.02	N	2.05	T	-1.004	T	0.088	T	0.357	2.821	15.40	5.75	2.721	2.518	18.928	0.105	0.012631436326	.	.	3.351e-05	0	8.678e-05	0	0	1.512e-05	0.0011	6.579e-05	2.59e-05	4	154602	rs767812673	2.758e-05	3.147e-05	3.018e-05	2.496e-05	0.0005	2.079e-05	1.83e-05	0.0001	7.671e-05	6.118e-05	7.112e-05	0	2.533e-05	0	0.0005	1.986e-05	1.672e-05	9.539e-05	1.314e-05	1.313e-05	0	2.691e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.547	0.07140	T	0.438	0.13403	T	0.789	0.44570	P	0.128	0.32786	B	0.000002	0.62929	D	0.059377	0.999982	0.54805	D	-0.025	0.05070	N	0.14	0.60854	T	0.1	0.05810	N	0.413	0.45331	-1.0043	0.28666	T	0.088	0.33941	T	10	0.14486843	0.27487	T	0.012631	0.31371	T	0.105	0.29889	0.194	0.10571	0.357630699053	0.35373	0.2005890945580645	0.19975	0.17007679262	0.19178	0.596359610558	0.52391	T	0.038922	0.25012	T	-0.192509	0.21890	T	-0.32903	0.41578	T	0.200643807649612	0.20451	T	0.824917	0.48720	T	0.0997011	0.23533	0.108601496	0.26163	0.0997011	0.23532	0.108601496	0.26162	-4.708	0.33501	T	.	.	0.075	0.05579	B	.;.;.	.;.;.	3.523911	0.49411	22.8	0.99137131324027084	0.53437	0.98078	0.79411	D	AEFDBIJ	0.646547	0.62205	D	-0.0628506889405849	0.39030	2.295228	0.146749786611076	0.46969	2.934434	0.999999999976982	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.75	5.75	0.90390	2.071000	0.41125	6.016000	0.52721	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:1.0:0.0:0.0	18.928	0.92527	449	0.79428	.;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1068.98	107	chr16	64988342	.	C	T	1068.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.26;DP=909;ExcessHet=0.0000;FS=6.390;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.99;ReadPosRankSum=0.076;SOR=0.303	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr16	66734304	66734304	G	A	exonic	DYNC1LI2	.	nonsynonymous SNV	DYNC1LI2:NM_001286157:exon5:c.C476T:p.A159V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.998	D	0.917	D	0.000	D	1.000	D	2.035	M	2.15	T	-0.953	T	0.172	T	0.822	3.953	20.2	4.99	2.748	9.657	18.88	0.226	0.014322145159	0.0004	0.00119808	0.0003	0.0024	0.0003	0	0	7.644e-05	0	6.285e-05	0.0002587	40	154602	rs138998809	5.815e-05	5.883e-05	6.943e-05	4.676e-05	0.0012	4.81e-05	4.432e-05	0.0009	0.0008	0.0012	0.0002	0	0	1.873e-05	0	1.529e-05	0.0003	2.32e-05	0.0006	0.0006	0.0005	0.0007	0.0022	0.0005	0.0005	0.0018	0.0017	0.0022	0	0.0004	0	0	0	0	1.47e-05	0	0	0.493	0.08891	T	0.497	0.11299	T	0.995	0.67487	D	0.914	0.64984	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.095	0.58118	M	1.61	0.28391	T	-1.58	0.38151	N	0.84	0.83678	-0.9527	0.40503	T	0.172	0.51421	T	10	0.05246198	0.05283	T	0.014322	0.34357	T	0.226	0.52472	.	.	0.68767428264	0.68500	0.5791528764675137	0.57844	0.879070115435	0.69703	0.749772906303	0.74413	T	0.050349	0.28569	T	-0.210536	0.19303	T	-0.0824604	0.64724	T	0.0671864763053135	0.08250	T	0.905309	0.67067	D	0.41397437	0.61688	0.17208134	0.39436	0.41397437	0.61689	0.17208134	0.39435	-7.958	0.60783	D	.	.	0.164	0.47393	B	.;.;.	.;.;.	5.247094	0.88089	29.5	0.99872766849610162	0.94989	0.98170	0.80208	D	AEFDBCI	0.902913	0.85137	D	0.677414358852762	0.78153	6.814403	0.666154589189166	0.79821	7.16356	0.999999999997675	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.99	4.99	0.65942	10.003000	0.99689	11.901000	0.99356	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.631000	0.32184	0.0:0.0:1.0:0.0	18.88	0.92323	154	0.93967	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	796.98	35	chr16	66734304	.	G	A	796.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.427;DP=797;ExcessHet=0.0000;FS=1.753;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.76;ReadPosRankSum=-9.300e-01;SOR=0.476	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1133	20	0	1	0
chr16	66755044	66755044	G	A	exonic	TERB1	.	nonsynonymous SNV	TERB1:NM_001136505:exon19:c.C2116T:p.R706W,	.	.	431	1070	21	0	0	21	0.00971772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.804	P	0.244	B	.	.	1.000	D	2.25	M	-0.01	T	-0.711	T	0.196	T	0.834	1.886	12.26	0.895	0.687	0.219	8.173	0.340	0.0990114348706	.	0.00139776	0.0020	0	0.0024	0	0	0.0016	0	0.0030	0.0003687	57	154602	rs200191895	0.0009	0.0008	0.0008	0.0010	0.0035	0.0008	0.0008	0.0031	0.0030	0.0001	0.0011	0.0025	0	0.0001	0.0033	0.0007	0.0013	0.0035	0.0008	0.0008	0.0008	0.0007	0.0027	0.0007	0.0006	0.0016	0.0013	0.0002	0	0.0015	0.0017	0.0004	0.0002	0	0.0009	0.0028	0.0027	.	.	.	0.0	0.92824	D	0.804	0.45171	P	0.244	0.38795	B	.	.	.	.	0.945505	0.81001	D	2.65	0.77586	M	-0.01	0.62762	T	.	.	.	0.915	0.91736	-0.7112	0.59893	T	0.196	0.55100	T	9	0.063039124	0.08152	T	0.099011	0.77036	D	0.340	0.66202	.	.	0.632468194898	0.62945	0.8632737748027692	0.86291	.	.	0.436707556248	0.30127	T	0.046743	0.27515	T	-0.144685	0.29145	T	0.0169721	0.71435	D	0.0380087372379942	0.03334	T	0.906209	0.66975	D	0.12773815	0.29883	0.19236793	0.42747	0.12773815	0.29883	0.19236793	0.42746	-13.416	0.91004	D	.	.	0.558	0.67132	A	.;.	.;.	3.666294	0.52110	23.2	0.9401128398898142	0.24113	0.41925	0.26765	N	AEFDBHCI	0.372404	0.45806	N	0.109644642783173	0.46912	2.924414	0.10288310517962	0.44696	2.746361	0.999644148923686	0.41316	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.76	0.895	0.18380	0.258000	0.18156	2.010000	0.30161	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.929000	0.46594	0.084:0.0:0.2612:0.6547	8.173	0.30425	67	0.97183	SANT/Myb domain|SANT/Myb domain;SANT/Myb domain|SANT/Myb domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	271.98	36	chr16	66755044	.	G	A	271.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.191e+00;DP=718;ExcessHet=0.0000;FS=1.278;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.80;ReadPosRankSum=-1.551e+00;SOR=0.645	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1031	20	0	1	0
chr16	66818538	66818538	A	G	exonic	NAE1	.	nonsynonymous SNV	NAE1:NM_001018160:exon7:c.T344C:p.M115T	.	.	.	.	.	.	.	.	.	.	.	2392485	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.18	T	0.986	D	0.756	P	0.000	D	1.000	D	2.685	M	0.99	T	-0.649	T	0.228	T	0.963	4.256	22.2	5.42	2.174	8.795	15.774	0.571	0.0697749295344	.	0.000199681	9.191e-05	0	0	0	0	0	0	0.0007	7.76e-05	12	154602	rs555207416	5.78e-05	5.883e-05	3.971e-05	7.609e-05	0.0008	4.771e-05	4.392e-05	0.0007	0.0006	3.051e-05	0	0	0	0	0.0002	9.016e-06	3.333e-05	0.0008	5.256e-05	5.251e-05	8.999e-05	1.344e-05	0.0008	2.557e-05	1.83e-05	0.0003	0.0002	0	0	0	0	0	0	0	5.884e-05	0	0.0008	0.003	0.72154	D	0.137	0.79402	T	0.967	0.56408	D	0.697	0.54061	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.125	0.87999	M	0.99	0.41750	T	-4.13	0.77143	D	0.922	0.93018	-0.6491	0.62753	T	0.228	0.59283	T	10	0.4586926	0.59150	T	0.069775	0.70821	D	0.571	0.82573	0.403	0.43408	0.701869083827	0.69928	0.8352999150905557	0.83489	0.72135886601	0.62231	0.719352543354	0.69952	T	0.243452	0.61239	T	0.0266424	0.55274	T	0.173944	0.81642	D	0.714927732944489	0.41443	D	0.952605	0.85148	D	0.6665712	0.76250	0.64289695	0.79130	0.6665712	0.76251	0.64289695	0.79131	-8.422	0.67374	D	.	.	0.652	0.74497	P	.;.;.;.;.;.	.;.;.;.;.;.	4.360122	0.67047	25.0	0.99063045837449337	0.51528	0.99793	0.99505	D	AEFGBI	0.891075	0.82670	D	0.660909590363203	0.77075	6.605688	0.677555971165196	0.80678	7.352501	0.999999289904121	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.42	5.42	0.78666	8.841000	0.91766	11.291000	0.92027	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	15.774	0.77975	67	0.97183	.;THIF-type NAD/FAD binding fold;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1441.98	37	chr16	66818538	.	A	G	1441.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.528;DP=861;ExcessHet=0.0000;FS=0.595;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.42;ReadPosRankSum=-5.660e-01;SOR=0.749	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1258	20	0	1	0
chr16	66823281	66823281	T	C	exonic	NAE1	.	nonsynonymous SNV	NAE1:NM_001018160:exon5:c.A80G:p.D27G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.647	P	0.378	B	0.000	D	1.000	D	1.84	L	0.84	T	-0.901	T	0.154	T	0.731	3.314	17.14	4.78	1.896	7.581	14.602	0.231	0.0208761258462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.33753	T	0.075	0.42976	T	0.407	0.34981	B	0.378	0.43788	B	0.000001	0.84330	D	0.052997	1	0.81001	D	1.795	0.47270	L	0.84	0.47477	T	-2.77	0.58733	D	0.615	0.63798	-0.9008	0.47910	T	0.154	0.48430	T	10	0.5293914	0.63096	D	0.020876	0.43558	T	0.231	0.53208	0.523	0.62668	0.687836408464	0.68516	0.7237786903322078	0.72321	0.420935812295	0.42609	0.684337496758	0.64891	T	0.20038	0.55794	T	0.0804998	0.62098	D	-0.122144	0.61627	T	0.97700434923172	0.71640	D	0.972403	0.92553	D	0.57748663	0.71471	0.34648156	0.60315	0.57748663	0.71472	0.34648156	0.60315	-8.91	0.68874	D	.	.	0.597	0.68735	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.683808	0.74978	26.3	0.99334894869779522	0.59934	0.96941	0.71780	D	AEFBHCI	0.906918	0.86030	D	0.230208873191102	0.52667	3.439522	0.324970129236951	0.57011	3.865569	0.999999919631432	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.78	4.78	0.60666	7.642000	0.82531	6.210000	0.55001	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	14.602	0.68045	67	0.97183	.;THIF-type NAD/FAD binding fold;.;.;.;THIF-type NAD/FAD binding fold;THIF-type NAD/FAD binding fold	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.175	350.22	138	chr16	66823281	.	T	C	350.22	.	AC=7;AF=0.175;AN=40;BaseQRankSum=-3.935e+00;DP=1576;ExcessHet=2.5830;FS=217.219;InbreedingCoeff=-0.2105;MLEAC=7;MLEAF=0.175;MQ=60.00;MQRankSum=0.00;QD=0.43;ReadPosRankSum=0.615;SOR=11.035	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,33:111:99:.:.:100,0,1350	13	0	7	1
chr16	66913597	66913597	C	A	exonic	CDH16	.	nonsynonymous SNV	CDH16:NM_001204746:exon7:c.G506T:p.G169V	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.007	B	0.028	B	0.165	N	1.000	N	1.97	M	0.2	T	-0.948	T	0.162	T	0.123	-0.827	0.607	2.38	0.021	0.705	7.273	0.106	0.0188781028527	.	0.00119808	0.0010	0	0	0	0	0	0	0.0074	0.0008279	128	154602	rs577420973	0.0004	0.0004	0.0002	0.0006	0.0065	0.0004	0.0004	0.0060	0.0058	2.987e-05	0	0	0	0	0.0007	1.799e-06	0.0004	0.0065	0.0002	0.0002	0.0001	0.0002	0.0056	0.0001	0.0001	0.0039	0.0034	2.405e-05	0	0	0	0	0	0	0	0.0005	0.0056	0.236	0.20306	T	0.168	0.33442	T	0.003	0.12183	B	0.01	0.19966	B	0.165173	0.17540	N	0.586759	0.999999	0.08975	N	2.35	0.67516	M	0.2	0.60111	T	-1.79	0.45222	N	0.237	0.29774	-0.9475	0.41397	T	0.162	0.49814	T	10	0.006492585	0.00147	T	0.018878	0.41084	T	0.106	0.30130	0.737	0.86978	0.51627217869	0.51271	0.2955175998915724	0.29464	0.0935622623887	0.10566	0.27493712306	0.06797	T	0.219317	0.62285	T	-0.537412	0.00347	T	-0.541563	0.18143	T	0.0329402526420959	0.02462	T	0.680032	0.28847	T	0.059109144	0.11972	0.080919966	0.18347	0.059109144	0.11972	0.080919966	0.18346	-9.608	0.71622	D	.	.	0.117	0.26106	B	.;.;.;.;.	.;.;.;.;.	1.321759	0.17257	13.06	0.33013701383901078	0.01944	0.07140	0.13165	N	AEFDBCI	0.100329	0.20177	N	-1.0382466880957	0.07820	0.3645906	-1.06665262861253	0.08363	0.4108979	0.993138449708791	0.33098	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.39	2.38	0.28415	0.637000	0.24348	0.267000	0.16613	-0.794000	0.03222	0.000000	0.06391	0.000000	0.08366	0.205000	0.22041	0.1401:0.6994:0.0:0.1605	7.273	0.25441	109	0.95526	.;Cadherin-like;.;Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	547.98	30	chr16	66913597	.	C	A	547.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.008e+00;DP=784;ExcessHet=0.0000;FS=2.305;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.96;ReadPosRankSum=0.355;SOR=1.136	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1226	20	0	1	0
chr16	66925060	66925060	C	T	exonic	RRAD	.	nonsynonymous SNV	RRAD:NM_001128850:exon2:c.G120A:p.M40I	.	.	444	1069	9	0	0	9	0.0041919	.	.	2343267	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.37	T	0.001	B	0.002	B	0.000	D	1.000	D	0.975	L	-0.08	T	-0.984	T	0.145	T	0.272	3.780	19.19	3.42	1.036	5.995	10.909	0.065	0.215254888953	.	.	0.0008	0	0	0	0	0	0	0.0010	2.59e-05	4	154602	rs764978814	0.0001	0.0001	7.734e-05	0.0001	0.0013	8.913e-05	8.34e-05	0.0008	0.0007	0	0	0	0	0	0.0013	7.723e-05	4.31e-05	0.0010	5.92e-05	5.91e-05	5.144e-05	6.732e-05	0.0004	3.08e-05	2.212e-05	7.279e-05	3.341e-05	0	0	0	0	0	0	0	0.0001	0	0.0004	0.502	0.07695	T	0.602	0.07894	T	0.001	0.07471	B	0.002	0.06944	B	0.000000	0.84330	D	0.078689	0.999948	0.51968	D	1.79	0.46772	L	-0.08	0.63911	T	-1.14	0.29323	N	0.558	0.58883	-0.9840	0.34069	T	0.145	0.46895	T	10	0.07116127	0.10452	T	0.215255	0.87499	D	0.065	0.18881	0.319	0.29741	0.641759411539	0.63880	0.41515920431293374	0.41431	1.64548930497	0.89442	0.924835085869	0.98669	D	0.188929	0.54299	T	-0.362877	0.03970	T	-0.329403	0.41535	T	0.16455699552915	0.18202	T	0.759024	0.38317	T	0.5474054	0.69811	0.52511954	0.72564	0.5474054	0.69812	0.52511954	0.72564	-3.566	0.17367	T	.	.	0.802	0.77371	P	.;.	.;.	4.142923	0.62090	24.4	0.99223456643504737	0.55963	0.91496	0.53653	D	ALL	0.850498	0.76733	D	-0.387566083621317	0.25910	1.41015	-0.223929567258161	0.30681	1.729565	0.999999999997258	0.74766	0.437478	0.07067	0	0.552344	0.17405	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.38	3.42	0.38259	6.260000	0.72463	7.459000	0.59036	-0.390000	0.05348	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.1454:0.7144:0.1402:0.0	10.909	0.46307	113	0.95418	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	661.98	33	chr16	66925060	.	C	T	661.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.789e+00;DP=699;ExcessHet=0.0000;FS=1.283;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.55;ReadPosRankSum=-9.650e-01;SOR=1.022	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,987	20	0	1	0
chr16	66934018	66934018	T	G	exonic	CIAO2B	.	nonsynonymous SNV	CIAO2B:NM_016062:exon2:c.A191C:p.E64A,	.	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.955	P	0.794	P	0.000	D	1.000	D	2.45	M	.	.	-0.626	T	0.288	T	0.664	4.542	24.5	3.29	0.538	7.427	8.825	0.211	0.0324136793826	.	.	0.0002	0	0	0	0	0.0001	0	0.0008	0.0001358	21	154602	rs755990449	9.169e-05	9.166e-05	6.807e-05	0.0001	0.0009	7.892e-05	7.367e-05	0.0007	0.0007	0	0.0001	0	0	0	0.0002	3.508e-05	0.0002	0.0009	0.0001	0.0001	6.429e-05	0.0002	0.0006	7.093e-05	5.749e-05	0.0003	0.0002	0	0	0.0006	0	0	0	0	4.413e-05	0.0009	0.0006	0.13	0.26740	T	0.157	0.40747	T	0.955	0.54515	P	0.794	0.57880	P	0.000002	0.62929	D	0.098436	1	0.81001	D	.	.	.	.	.	.	-4.73	0.80085	D	0.852	0.84817	-0.6258	0.63747	T	0.288	0.66016	T	9	0.2747569	0.45030	T	0.032414	0.54249	D	0.211	0.50185	0.544	0.65731	0.475741759771	0.47203	0.717716488166977	0.71714	0.871252564397	0.69410	0.819010734558	0.84877	D	0.195933	0.55216	T	-0.0967382	0.36964	T	0.0064825	0.70754	D	0.618143081665039	0.37129	D	0.982302	0.94028	D	0.42429838	0.62376	0.28277084	0.54266	0.42429838	0.62377	0.28277084	0.54265	-4.467	0.30454	T	.	.	0.789	0.76759	P	.;.	.;.	5.370432	0.90033	31	0.99006521576076401	0.50273	0.82987	0.42145	D	AEFDGBHCI	0.869366	0.78986	D	0.516430515122111	0.68060	5.165622	0.475756378560282	0.66388	4.945465	0.999999999848151	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.657601	0.63696	0	.	.	5.52	3.29	0.36801	7.490000	0.80277	7.747000	0.68085	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1529:0.0:0.8471	8.825	0.34206	124	0.95048	MIP18 family-like;MIP18 family-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1500.98	185	chr16	66934018	.	T	G	1500.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.441e+00;DP=943;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.11;ReadPosRankSum=-2.690e-01;SOR=0.703	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1181	20	0	1	0
chr16	66940624	66940624	G	A	exonic	CES2	.	nonsynonymous SNV	CES2:NM_001365405:exon5:c.G745A:p.G249R	.	.	414	1099	9	0	0	9	0.00407793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.009	B	0.02	B	0.179	N	1.000	N	-1.32	N	0.68	T	-0.972	T	0.027	T	0.225	-1.192	0.077	-1.77	-0.108	0.113	5.360	0.071	0.00839481158817	7.7e-05	0.000599042	0.0004	0.0003	0	0	0	0.0001	0	0.0021	0.0003428	53	154602	rs10852434	0.0002	0.0002	0.0001	0.0002	0.0023	0.0002	0.0001	0.0013	0.0013	2.987e-05	0	0	2.519e-05	0	0.0023	7.554e-05	0.0003	0.0016	9.193e-05	9.186e-05	3.855e-05	0.0001	0.0017	5.524e-05	4.362e-05	0.0008	0.0006	2.407e-05	0	0	0	0	0	0	7.351e-05	0	0.0017	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.179065	0.17153	N	0.544061	1	0.08975	N	.	.	.	0.68	0.51952	T	-4.63	0.79229	D	0.182	0.19728	-0.9717	0.36841	T	0.027	0.11529	T	10	0.009138256	0.00207	T	0.008395	0.22206	T	0.071	0.20720	.	.	0.115124310173	0.11017	.	.	0.344274148581	0.36357	0.270970582962	0.06268	T	.	.	.	-0.526736	0.00402	T	-0.548411	0.17478	T	0.0150170097776587	0.00323	T	0.854315	0.55771	D	.	.	.	.	.	.	.	.	-5.621	0.42984	T	.	.	.	.	.	.;.	.;.	0.562517	0.09308	6.092	0.79578755717406935	0.12805	0.07494	0.13510	N	AEFDBCI	0.330502	0.43052	N	-1.52371816423393	0.01695	0.07416131	-1.4388450953808	0.02872	0.1329456	0.998701631374153	0.37498	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.29	-1.77	0.07551	0.031000	0.13598	-1.582000	0.05123	-0.127000	0.13314	0.002000	0.15269	0.000000	0.08366	0.556000	0.30317	0.3068:0.425:0.2682:0.0	5.360	0.15387	138	0.94518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2244.98	36	chr16	66940624	.	G	A	2244.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.61;DP=943;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.90;ReadPosRankSum=-9.070e-01;SOR=0.704	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1130	20	0	1	0
chr16	67145381	67145381	G	A	exonic	C16orf70	.	nonsynonymous SNV	C16orf70:NM_001320543:exon13:c.G928A:p.A310T	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.017	B	0.002	B	0.004	N	0.998	D	-0.435	N	.	.	-1.097	T	0.042	T	0.083	-0.047	3.774	2.72	0.347	1.042	4.790	0.051	0.00235202258976	.	.	8.333e-06	0	0	0	0	1.513e-05	0	0	6.5e-06	1	154602	rs778233814	1.163e-05	1.163e-05	1.089e-05	1.238e-05	4.637e-05	7.08e-06	5.79e-06	1.583e-05	9.3e-06	2.987e-05	0	0	0	0	0	8.094e-06	4.967e-05	4.637e-05	6.567e-06	6.562e-06	1.286e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.709	0.04056	T	0.709	0.05544	T	0.017	0.17573	B	0.002	0.06944	B	0.003755	0.34535	N	0.305004	0.997918	0.44315	D	0.125	0.08623	N	.	.	.	0.65	0.02332	N	0.14	0.14054	-1.0967	0.04514	T	0.042	0.18202	T	9	0.04991138	0.04648	T	0.002352	0.04562	T	0.051	0.14325	0.3	0.26683	0.171220215726	0.16700	0.23096321803516368	0.23011	0.345200742664	0.36432	.	.	.	0.009441	0.08594	T	-0.305449	0.08155	T	-0.579679	0.14574	T	0.0400425121188164	0.03698	T	0.718228	0.33111	T	0.017008718	0.00239	0.03182665	0.01828	0.017008718	0.00239	0.03182665	0.01828	-4.319	0.28442	T	.	.	0.061	0.01143	B	.;.	.;.	1.583893	0.20266	14.67	0.69482753804850084	0.08986	0.89484	0.49978	D	AEFDBI	0.136450	0.25713	N	-0.847717885787569	0.12106	0.5881074	-0.654114965659597	0.18112	0.9661714	0.999776584952027	0.42865	0.719381	0.83141	0	0.577304	0.33150	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	5.75	2.72	0.31179	1.111000	0.30773	1.348000	0.25786	-0.174000	0.10959	1.000000	0.71638	0.683000	0.26131	0.111000	0.18785	0.2426:0.0:0.6085:0.1489	4.790	0.12611	51	0.97631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2252.98	172	chr16	67145381	.	G	A	2252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.76;DP=887;ExcessHet=0.0000;FS=4.605;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.10;ReadPosRankSum=-1.252e+00;SOR=0.434	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1400	20	0	1	0
chr16	67163816	67163816	C	A	exonic	FBXL8	.	nonsynonymous SNV	FBXL8:NM_018378:exon3:c.C1121A:p.A374E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.001	B	0.002	B	0.272	N	1.000	N	1.39	L	.	.	-0.915	T	0.103	T	0.273	3.297	17.08	-4.23	-0.264	-0.063	7.527	0.060	0.0111444041461	.	0.000199681	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs199975180	3.594e-06	6.84e-06	5.68e-06	1.456e-06	0.0004	1.05e-06	7.7e-07	6.939e-05	2.898e-05	0	0	0	0	0	0.0004	1.844e-06	1.733e-05	0	6.571e-06	6.564e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.014	0.53172	D	0.0	0.92824	D	0.001	0.07471	B	0.002	0.06944	B	0.272249	0.03780	N	1.581870	0.999917	0.19599	N	1.1	0.28011	L	.	.	.	0.58	0.02598	N	0.076	0.05162	-0.9153	0.46181	T	0.103	0.37994	T	9	0.03180635	0.01320	T	0.011144	0.28456	T	0.060	0.17295	.	.	0.0762999501168	0.06990	0.5128410902770355	0.51206	1.50208163168	0.87046	0.523213744164	0.42078	T	0.008699	0.07968	T	-0.14129	0.29684	T	-0.44073	0.28726	T	0.457863718271255	0.31087	T	0.518348	0.16810	T	0.15673529	0.35354	0.14683016	0.34770	0.15673529	0.35354	0.14683016	0.34770	-4.413	0.29733	T	.	.	0.190	0.41663	B	.;.	.;.	1.960405	0.24899	16.57	0.96660930536928424	0.30625	0.20401	0.21027	N	ALL	0.086960	0.17632	N	-0.909220397386636	0.10626	0.5086582	-0.989431187039385	0.10022	0.5021653	0.999999999788863	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.606814	0.37721	0	0.618803	0.45993	0	.	.	4.23	-4.23	0.03530	-0.076000	0.11374	-1.831000	0.04647	-0.229000	0.07765	0.089000	0.22556	0.000000	0.08366	0.000000	0.00833	0.3901:0.2016:0.4084:0.0	7.527	0.26829	46	0.97728	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	862.98	35	chr16	67163816	.	C	A	862.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.566;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.28;ReadPosRankSum=-1.895e+00;SOR=0.686	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,100,1327	20	0	1	0
chr16	67175090	67175090	C	G	exonic	NOL3	.	nonsynonymous SNV	NOL3:NM_001185057:exon4:c.C653G:p.A218G	Myoclonus, familial cortical, Autosomal dominant	.	7	1439	71	5	0	81	0.0273741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.00239617	0.0037	0.0002	0.0008	0	0	0.0016	0.0045	0.0199	0.0031888	493	154602	rs201000974	0.0021	0.0021	0.0014	0.0027	0.0220	0.0020	0.0020	0.0212	0.0209	0.0001	0.0006	0.0117	2.519e-05	0	0.0140	0.0005	0.0027	0.0220	0.0013	0.0013	0.0010	0.0017	0.0197	0.0012	0.0011	0.0165	0.0153	2.404e-05	0	0.0016	0.0104	0	0	0.0068	0.0006	0.0024	0.0197	0.394	0.10694	T	0.417	0.14241	T	.	.	.	.	.	.	.	.	.	.	1	0.18612	N	0	0.06538	N	.	.	.	-1.07	0.27876	N	0.052	0.02366	.	.	.	.	.	.	.	0.0031780005	0.00053	T	.	.	.	.	.	.	.	0.404315859256	0.40048	.	.	0.426604590348	0.43034	0.291245102882	0.09104	T	.	.	.	-0.513528	0.00479	T	-0.494168	0.22954	T	.	.	.	0.264874	0.04312	T	.	.	.	.	.	.	.	.	-3.213	0.12640	T	.	.	0.087	0.11124	B	.	.	1.441142	0.18608	13.83	0.66975076403872813	0.08217	0.10998	0.16338	N	AEFDGBHCI	0.103023	0.20652	N	.	.	.	.	.	.	0.999999942656462	0.74766	0.676563	0.55306	0	0.627608	0.54475	0	0.673471	0.61138	0	0.665054	0.64577	0	.	.	3.68	2.72	0.31179	0.395000	0.20576	0.209000	0.15940	-0.240000	0.07525	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.0:0.7805:0.2195:0.0	9.296	0.36978	45	0.97767	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1198.98	34	chr16	67175090	.	C	G	1198.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.800e-02;DP=836;ExcessHet=0.0000;FS=0.785;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=-9.260e-01;SOR=0.865	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1368	20	0	1	0
chr16	67184488	67184488	C	T	exonic	EXOC3L1	.	nonsynonymous SNV	EXOC3L1:NM_178516:exon14:c.G2147A:p.R716H,	.	.	418	1097	6	1	0	8	0.00363306	.	.	2808024	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.3	T	1.0	D	0.993	D	0.000	D	0.997	D	2.32	M	3.15	T	-1.178	T	0.043	T	0.538	2.366	13.87	4.43	2.543	1.441	11.333	0.218	.	0.0046	0.00179712	0.0064	0.0023	0.0083	0	0	0.0073	0	0.0066	0.0016559	256	154602	rs201102355	0.0081	0.0077	0.0082	0.0081	0.0095	0.0080	0.0080	0.0094	0.0093	0.0015	0.0016	0.0021	2.898e-05	0.0022	0.0027	0.0095	0.0053	0.0046	0.0049	0.0049	0.0054	0.0044	0.0092	0.0046	0.0045	0.0086	0.0084	0.0016	0	0.0016	0.0032	0	0.0008	0	0.0092	0.0005	0.0031	0.127	0.27080	T	0.044	0.49663	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.997379	0.43837	D	2.91	0.84121	M	3.15	0.07820	T	-0.89	0.24026	N	0.313	0.35301	-1.1784	0.00393	T	0.043	0.18659	T	10	0.00631842	0.00143	T	.	.	.	0.218	0.51265	.	.	0.71668769033	0.71419	0.659647506135891	0.65901	1.06283970898	0.76536	0.588545203209	0.51289	T	0.006238	0.05676	T	-0.436761	0.01351	T	-0.392334	0.34279	T	0.0600442503732015	0.07176	T	0.840116	0.51512	T	0.12282085	0.28853	0.1602537	0.37334	0.12282085	0.28853	0.1602537	0.37334	-3.802	0.20834	T	.	.	0.137	0.29914	B	.	.	2.581401	0.33471	19.35	0.98304441655331865	0.40078	0.55486	0.29876	D	ALL	0.181792	0.30911	N	0.378894523499644	0.60279	4.215222	0.273866399948809	0.54018	3.568194	0.999999999999273	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	5.44	4.43	0.52967	0.663000	0.24735	2.604000	0.33538	0.599000	0.40250	0.384000	0.26039	0.991000	0.31484	0.005000	0.06747	0.0:0.8166:0.1834:0.0	11.333	0.48723	44	0.97806	.	PDP2|NFATC3|NAE1|NAE1|NAE1|CDH16	Adipose_Subcutaneous|Artery_Aorta|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Testis|Testis	NAE1|NAE1|NAE1	Adrenal_Gland|Adrenal_Gland|Colon_Transverse	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1133.98	35	chr16	67184488	.	C	T	1133.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.55;ReadPosRankSum=-6.870e-01;SOR=0.879	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1299	20	0	1	0
chr16	67186328	67186328	G	A	exonic	EXOC3L1	.	stopgain	EXOC3L1:NM_178516:exon9:c.C1405T:p.R469X,	.	.	426	1087	9	0	0	9	0.00412277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.93	T	.	.	.	.	0.005	N	1.000	A	.	.	.	.	.	.	.	.	.	6.146	37	3.59	1.352	0.991	8.422	.	.	0.0029	0.00579073	0.0091	0.0016	0.0037	0	0.0061	0.0073	0.0043	0.0168	0.0031436	486	154602	rs141772271	0.0049	0.0049	0.0047	0.0052	0.0136	0.0048	0.0048	0.0129	0.0126	0.0007	0.0019	0.0093	0	0.0007	0.0039	0.0048	0.0037	0.0136	0.0034	0.0034	0.0034	0.0035	0.0143	0.0032	0.0031	0.0116	0.0106	0.0011	0.0285	0.0031	0.0092	0	0.0004	0	0.0043	0.0028	0.0143	.	.	.	.	.	.	.	.	.	.	.	.	0.005496	0.32753	N	0.320112	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.103	0.08646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228092	0.76541	D	0.566539	0.96104	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	8.859664	0.98123	38	0.99374103421799631	0.61585	0.82148	0.41421	D	AEFGBI	0.267636	0.38430	N	0.582264693279167	0.72067	5.74792	0.421777609724625	0.62926	4.516355	0.999987585735584	0.51787	0.615465	0.37627	0	0.563428	0.19063	0	0.61531	0.40942	0	0.655142	0.61905	0	.	.	5.58	3.59	0.40253	0.593000	0.23700	4.481000	0.43534	0.676000	0.76740	0.772000	0.29380	1.000000	0.68203	0.993000	0.69303	0.0802:0.0:0.7685:0.1513	8.422	0.31869	43	0.97828	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1164.98	34	chr16	67186328	.	G	A	1164.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.715;DP=795;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=-5.570e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1372	20	0	1	0
chr16	67188925	67188925	A	T	exonic	EXOC3L1	.	nonsynonymous SNV	EXOC3L1:NM_178516:exon4:c.T223A:p.Y75N,	.	.	419	1102	1	0	0	1	0.000453515	.	.	2808027	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.23	T	1.0	D	0.997	D	0.000	D	1.000	D	2.3	M	3.02	T	-1.066	T	0.087	T	0.817	3.771	19.15	5.85	2.233	5.995	15.065	0.295	.	0.0051	0.00219649	0.0070	0.0006	0.0021	0	0.0281	0.0087	0.0126	0.0023	0.0064165	992	154602	rs117403380	0.0070	0.0070	0.0069	0.0071	0.0071	0.0069	0.0068	0.0070	0.0069	0.0010	0.0030	0.0016	5.038e-05	0.0297	0.0007	0.0071	0.0054	0.0024	0.0068	0.0068	0.0060	0.0077	0.0087	0.0065	0.0063	0.0081	0.0079	0.0006	0.0022	0.0053	0.0017	0	0.0281	0.0102	0.0087	0.0080	0.0033	0.088	0.34095	T	0.0	0.92824	D	1.0	0.90584	D	0.994	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.945	0.84822	M	3.02	0.16089	T	-1.73	0.45769	N	0.851	0.84713	-1.0661	0.10293	T	0.087	0.33774	T	10	0.009964436	0.00223	T	.	.	.	0.295	0.61502	.	.	0.70904498819	0.70650	0.5359754917450498	0.53522	0.395847736703	0.40711	0.724603116512	0.70718	T	0.089854	0.38462	T	-0.26484	0.12338	T	-0.145952	0.59600	T	0.0476183086248913	0.05076	T	0.864914	0.75597	D	0.24159034	0.47076	0.18777151	0.42028	0.24159034	0.47076	0.18777151	0.42027	-9.564	0.71257	D	.	.	0.472	0.70540	A	.;.;.;.	.;.;.;.	4.476800	0.69809	25.4	0.97721304573646861	0.35561	0.98969	0.89329	D	AEFBI	0.910607	0.86873	D	0.731966278753647	0.81729	7.59064	0.721110749455357	0.83984	8.166763	0.999999999390469	0.74766	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.85	5.85	0.93663	4.029000	0.56964	5.425000	0.48576	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.065	0.71656	41	0.97903	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1491.98	35	chr16	67188925	.	A	T	1491.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.431;DP=862;ExcessHet=0.0000;FS=1.923;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.83;ReadPosRankSum=0.565;SOR=0.857	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1055	20	0	1	0
chr16	67189100	67189100	G	A	exonic	EXOC3L1	.	nonsynonymous SNV	EXOC3L1:NM_178516:exon3:c.C127T:p.R43W,	.	.	422	1089	11	0	0	11	0.00502513	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.949	D	0.000	D	1.000	D	2.36	M	2.39	T	-0.631	T	0.209	T	0.652	4.406	23.4	3.18	1.190	1.872	13.336	0.261	.	0.0010	0.00179712	0.0026	0.0001	0.0004	0	0.0002	0.0017	0.0045	0.0104	0.0019663	304	154602	rs138207138	0.0017	0.0017	0.0014	0.0020	0.0095	0.0016	0.0016	0.0090	0.0088	0.0003	0.0004	0.0007	5.052e-05	0.0001	0.0045	0.0013	0.0017	0.0095	0.0014	0.0014	0.0012	0.0015	0.0116	0.0012	0.0012	0.0092	0.0083	0.0002	0.0373	0.0010	0.0006	0	9.427e-05	0	0.0013	0.0019	0.0116	0.0	0.91255	D	0.001	0.83351	D	0.999	0.90584	D	0.828	0.68658	P	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	2.955	0.85029	M	2.39	0.35031	T	-5.91	0.93135	D	0.577	0.59901	-0.6314	0.63511	T	0.209	0.56798	T	10	0.007327825	0.00167	T	.	.	.	0.261	0.57352	.	.	0.662692292153	0.65986	0.589916096667484	0.58921	0.325835097121	0.34731	0.388623774052	0.23475	T	0.260308	0.63166	T	-0.279259	0.10745	T	-0.166521	0.57760	T	0.0883487671110309	0.11020	T	0.89781	0.82322	D	0.72637236	0.79519	0.63070565	0.78457	0.72637236	0.79521	0.63070565	0.78458	-9.787	0.72626	D	.	.	0.131	0.55257	B	.;.;.;.	.;.;.;.	4.903343	0.80616	27.4	0.99912105370551108	0.98095	0.91342	0.53340	D	AEFDBI	0.874708	0.79772	D	0.464599842962669	0.65036	4.772212	0.388537297373506	0.60859	4.278235	0.99999724083156	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.25	3.18	0.35615	1.917000	0.39626	5.649000	0.49176	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.7154:0.2846	13.336	0.59958	41	0.97903	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	550.98	35	chr16	67189100	.	G	A	550.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=731;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.52;ReadPosRankSum=-1.410e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1055	20	0	1	0
chr16	67228398	67228398	C	G	exonic	TMEM208	.	nonsynonymous SNV	TMEM208:NM_014187:exon3:c.C146G:p.A49G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.679	P	0.136	B	0.000	D	1.000	D	1.39	L	1.52	T	-1.096	T	0.060	T	0.366	2.071	12.88	5.39	2.528	4.514	15.888	0.079	0.0137786039362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	1.437e-05	0	1.375e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.12632	T	0.342	0.17910	T	0.679	0.41373	P	0.136	0.33270	B	0.000340	0.45700	D	0.193031	0.994158	0.81001	D	1.7	0.43825	L	1.52	0.30669	T	-1.76	0.42191	N	0.539	0.58287	-1.0958	0.04639	T	0.060	0.25237	T	10	0.29794908	0.47354	T	0.013779	0.33440	T	0.079	0.23065	0.457	0.52265	0.0762999501168	0.06990	0.5849071720731794	0.58420	0.288640209993	0.31269	0.727495908737	0.71140	T	0.060991	0.31535	T	-0.105032	0.35590	T	-0.388647	0.34711	T	0.644348740577698	0.38221	D	0.905209	0.66592	D	0.18404564	0.39701	0.18685585	0.41883	0.18404564	0.39700	0.18685585	0.41883	-4.656	0.32867	T	.	.	0.144	0.35951	B	.;.	.;.	3.123735	0.42181	21.5	0.97918489311336776	0.36864	0.96631	0.70114	D	AEFGBHCI	0.849400	0.76622	D	0.248460247980296	0.53561	3.524604	0.366247796533668	0.59493	4.127561	0.99999999987856	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.606735	0.37207	0	0.735409	0.98432	0	.	.	5.39	5.39	0.77615	4.879000	0.62792	5.972000	0.52016	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.888	0.79052	25	0.98345	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1765	123.4	57	chr16	67228398	.	C	G	123.4	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-2.360e+00;DP=1501;ExcessHet=1.7912;FS=113.169;InbreedingCoeff=-0.2184;MLEAC=6;MLEAF=0.176;MQ=60.00;MQRankSum=0.00;QD=0.22;ReadPosRankSum=0.968;SOR=10.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,15:89:3:0|1:67228398_C_G:3,0,2315:67228398	11	0	6	4
chr16	67230718	67230718	C	T	exonic	FHOD1	.	nonsynonymous SNV	FHOD1:NM_013241:exon18:c.G2741A:p.R914Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.231	B	0.163	B	0.000	N	0.686	D	1.385	L	2.32	T	-1.048	T	0.036	T	0.125	2.623	14.73	2.14	0.728	4.002	7.360	0.073	0.018654897352	0.0008	0.000199681	0.0011	0.0003	0.0008	0	0.0035	0.0014	0.0022	0.0003	0.0010349	160	154602	rs147506405	0.0008	0.0008	0.0008	0.0008	0.0008	0.0007	0.0007	0.0008	0.0007	8.963e-05	0.0004	3.832e-05	0	0.0031	0.0007	0.0008	0.0007	0.0002	0.0007	0.0007	0.0007	0.0006	0.0011	0.0006	0.0005	0.0009	0.0008	9.619e-05	0	6.534e-05	0	0	0.0016	0	0.0011	0	0.0006	0.029	0.45756	D	0.045	0.49390	D	0.231	0.30614	B	0.163	0.34892	B	0.000055	0.53742	N	0.155895	0.685845	0.33278	D	0.895	0.22405	L	2.32	0.16640	T	-1.14	0.29323	N	0.229	0.25745	-1.0477	0.15045	T	0.036	0.15509	T	10	0.0077819526	0.00177	T	0.018655	0.40796	T	0.073	0.21317	.	.	0.475971816791	0.47228	0.11375642890415644	0.11303	0.560730151765	0.52593	0.390138864517	0.23689	T	0.057824	0.30673	T	-0.556146	0.00268	T	-0.596269	0.13126	T	0.0356543849253602	0.02920	T	0.793521	0.43550	T	0.092549145	0.21715	0.08704327	0.20207	0.092549145	0.21715	0.08704327	0.20207	-8.424	0.63924	D	.	.	0.08	0.07793	B	.	.	3.822274	0.55193	23.6	0.99825657502451826	0.90764	0.70939	0.34800	D	AEFBHCI	0.101827	0.20442	N	-0.209869850961255	0.32729	1.849038	-0.164427293882947	0.32856	1.873527	0.943405903924337	0.27567	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.61	2.14	0.26518	4.049000	0.57110	1.746000	0.28438	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.754000	0.35928	0.0:0.5857:0.0:0.4143	7.360	0.25915	25	0.98345	Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	5529.08	33	chr16	67230718	.	C	T	5529.08	.	AC=2;AF=0.048;AN=42;DP=886;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.72;SOR=0.912	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1457	20	1	0	0
chr16	67270751	67270751	G	A	exonic	SLC9A5	.	nonsynonymous SNV	SLC9A5:NM_001323971:exon13:c.G1856A:p.C619Y,	.	.	429	1056	36	1	0	38	0.0176744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0070	0.00638978	0.0115	0.0021	0.0024	0.0003	0.0062	0.0102	0.0185	0.0424	0.0083117	1285	154602	rs143000650	0.0093	0.0093	0.0087	0.0099	0.0264	0.0092	0.0091	0.0255	0.0251	0.0010	0.0023	0.0050	7.591e-05	0.0045	0.0118	0.0092	0.0088	0.0264	0.0056	0.0056	0.0055	0.0056	0.0243	0.0053	0.0051	0.0207	0.0194	0.0014	0.0033	0.0027	0.0035	0.0004	0.0024	0	0.0086	0.0024	0.0243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2365.08	33	chr16	67270751	.	G	A	2365.08	.	AC=2;AF=0.048;AN=42;DP=774;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.85;SOR=2.115	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1223	20	1	0	0
chr16	67280224	67280224	G	T	exonic	PLEKHG4	.	nonsynonymous SNV	PLEKHG4:NM_001129731:exon1:c.G180T:p.E60D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.007	B	0.012	B	.	.	1.000	N	0.69	N	3.0	T	-0.940	T	0.016	T	0.126	1.591	11.27	1.54	0.751	1.260	6.242	0.025	0.00392399736175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	0.0003	2.3e-07	9e-08	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.665	0.24183	T	0.829	0.07691	T	0.007	0.14184	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	3.0	0.09356	T	0.37	0.15379	N	0.099	0.10340	-0.9395	0.42695	T	0.016	0.06664	T	9	0.049572855	0.04567	T	0.003924	0.09242	T	0.025	0.05312	0.071	0.00418	0.237489013734	0.23353	0.07627829696260831	0.07563	0.240294816583	0.26575	0.354922652245	0.18644	T	0.01263	0.19900	T	-0.294814	0.09159	T	-0.661257	0.08182	T	0.0605525633088685	0.07255	T	0.639136	0.25296	T	0.045333166	0.07402	0.045889445	0.06274	0.045333166	0.07401	0.045889445	0.06274	-3.471	0.16713	T	.	.	0.071	0.10400	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.798412	0.11688	8.271	0.95249891704369249	0.26504	0.09029	0.14865	N	AEFDGBI	0.077126	0.15532	N	-0.976543398578974	0.09106	0.4296346	-0.996784135009338	0.09857	0.4928906	0.999990191912078	0.74766	0.676563	0.55306	0	0.55458	0.17659	0	0.673471	0.61138	0	0.562822	0.20929	0	.	.	3.73	1.54	0.22290	1.196000	0.31807	1.920000	0.29703	0.602000	0.45918	0.009000	0.18154	0.955000	0.29136	0.038000	0.14061	0.0:0.2052:0.5837:0.2112	6.242	0.20008	23	0.98420	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	831.98	33	chr16	67280224	.	G	T	831.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.180e-01;DP=778;ExcessHet=0.0000;FS=1.883;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.67;ReadPosRankSum=1.40;SOR=0.670	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,109,1155	20	0	1	0
chr16	67282505	67282505	C	T	exonic	PLEKHG4	.	nonsynonymous SNV	PLEKHG4:NM_001129731:exon8:c.C1013T:p.T338M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.833	P	0.216	B	0.763	N	1.000	N	0.69	N	3.02	T	-1.027	T	0.018	T	0.081	1.002	9.091	4.59	2.722	-0.293	10.497	0.091	0.00897261410636	7.7e-05	0.000199681	2.475e-05	0	0	0	0	4.505e-05	0	0	2.59e-05	4	154602	rs149891982	4.447e-05	4.446e-05	4.629e-05	4.263e-05	0.0002	3.575e-05	3.257e-05	4.091e-05	3.741e-05	5.974e-05	0	0	0	0	0.0002	5.216e-05	3.312e-05	2.319e-05	5.908e-05	5.905e-05	3.854e-05	8.054e-05	0.0001	3.074e-05	2.208e-05	4.764e-05	3.339e-05	4.811e-05	0	0	0	0	0	0	0.0001	0	0	0.095	0.33585	T	0.049	0.51112	D	0.744	0.46172	P	0.107	0.37572	B	0.763117	0.06552	N	1.177620	1	0.08975	N	0	0.06538	N	3.02	0.08986	T	-1.65	0.39503	N	0.075	0.09772	-1.0272	0.21363	T	0.018	0.07329	T	10	0.051061153	0.04931	T	0.008973	0.23631	T	0.091	0.26358	.	.	0.350964488264	0.34705	0.09665590258348188	0.09597	0.27085037371	0.29608	0.261438250542	0.05064	T	0.052666	0.29226	T	-0.432656	0.01429	T	-0.7516	0.03423	T	0.139739811420441	0.16253	T	0.574842	0.20648	T	0.020522587	0.00614	0.042463273	0.05062	0.020522587	0.00614	0.042463273	0.05062	-5.292	0.39864	T	.	.	0.070	0.03661	B	.;.;.;.	.;.;.;.	0.787136	0.11572	8.167	0.96602109518110679	0.30409	0.03554	0.08756	N	AEFDBI	0.047478	0.07999	N	-0.293269382982851	0.29407	1.630503	-0.301874559988773	0.28038	1.560218	0.994564780206566	0.33696	0.706548	0.73137	0	0.547309	0.14657	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.73	4.59	0.56297	-0.277000	0.08534	0.390000	0.17879	-0.194000	0.09177	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.8988:0.0:0.1012	10.497	0.43972	23	0.98420	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2555.98	45	chr16	67282505	.	C	T	2555.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.910e-01;DP=1155;ExcessHet=0.0000;FS=2.904;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.39;ReadPosRankSum=-4.330e-01;SOR=0.524	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1285	20	0	1	0
chr16	67299535	67299535	C	T	exonic	KCTD19	.	nonsynonymous SNV	KCTD19:NM_001100915:exon6:c.G814A:p.G272R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.999	D	0.838	P	0.000	D	0.749	D	0.55	N	0.19	T	-0.645	T	0.187	T	0.741	3.516	17.96	4.81	2.884	2.109	10.045	0.222	0.0199327264171	0.0002	.	0.0002	0	0	0	0	0.0003	0	0	0.0001552	24	154602	rs200934934	0.0005	0.0005	0.0005	0.0005	0.0006	0.0005	0.0004	0.0005	0.0005	5.974e-05	2.236e-05	0	0	7.521e-05	0	0.0006	0.0008	1.159e-05	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0004	0.0003	0.0001	0	0	0	0	0	0	0.0005	0.0005	0	0.001	0.78490	D	0.008	0.67890	D	0.999	0.77913	D	0.838	0.60045	P	0.000003	0.62929	D	0.000000	0.749175	0.33909	D	0.345	0.11182	N	0.19	0.60236	T	-0.35	0.12847	N	0.702	0.70615	-0.6447	0.62944	T	0.187	0.53767	T	10	0.6075519	0.67260	D	0.019933	0.42414	T	0.222	0.51872	0.257	0.19845	0.759310620552	0.75712	0.7090914414039867	0.70851	0.36538535664	0.38135	0.528607606888	0.42837	T	0.009147	0.08348	T	-0.132722	0.31056	T	-0.11035	0.62584	T	0.0675292589763178	0.08301	T	0.839616	0.51418	T	0.2093559	0.43200	0.26002952	0.51760	0.2093559	0.43200	0.26002952	0.51759	-3.717	0.19569	T	.	.	0.120	0.24633	B	.	.	3.602949	0.50895	23.0	0.99929336734272245	0.99279	0.76491	0.37519	D	AEFDBI	0.244744	0.36580	N	0.384906590117375	0.60604	4.251108	0.407902736549139	0.62057	4.414849	0.999934972744209	0.46732	0.581397	0.33459	0	0.610034	0.51514	0	0.547309	0.15389	0	0.622129	0.49086	0	.	.	5.77	4.81	0.61401	2.132000	0.41706	3.377000	0.37975	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.450000	0.27895	0.0:0.9103:0.0:0.0897	10.045	0.41354	34	0.98095	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1421.98	39	chr16	67299535	.	C	T	1421.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.66;ReadPosRankSum=-7.720e-01;SOR=0.734	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1279	20	0	1	0
chr16	67304454	67304454	A	T	exonic	KCTD19	.	nonsynonymous SNV	KCTD19:NM_001100915:exon3:c.T418A:p.S140T,	.	.	424	1061	36	1	0	38	0.0175926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.985	D	0.542	P	0.001	N	0.922	N	0.55	N	0.14	T	-0.898	T	0.114	T	0.282	4.200	21.8	5.87	2.233	3.244	13.629	0.182	.	0.0071	0.00658946	0.0087	0.0015	0.0018	0.0002	0.0047	0.0079	0.0144	0.0270	0.0084216	1302	154602	rs143573730	0.0094	0.0094	0.0087	0.0100	0.0266	0.0092	0.0092	0.0257	0.0253	0.0010	0.0023	0.0050	7.557e-05	0.0046	0.0123	0.0092	0.0088	0.0266	0.0056	0.0056	0.0056	0.0056	0.0245	0.0053	0.0052	0.0209	0.0195	0.0014	0.0033	0.0027	0.0035	0.0004	0.0023	0	0.0087	0.0024	0.0245	0.007	0.59928	D	0.111	0.37173	T	0.985	0.61118	D	0.542	0.48916	P	0.001385	0.39175	N	0.116318	0.921889	0.27273	N	0.895	0.22405	L	0.14	0.60854	T	-0.65	0.18877	N	0.375	0.41656	-0.8979	0.48205	T	0.114	0.40513	T	10	0.006156385	0.00139	T	.	.	.	0.182	0.45420	.	.	0.78800085046	0.78603	0.7784897433197607	0.77798	0.837338821554	0.67864	0.76940703392	0.77336	T	0.019758	0.15682	T	-0.426939	0.01547	T	-0.365095	0.37462	T	0.0246198427217777	0.01224	T	0.688231	0.29741	T	0.16197774	0.36243	0.16115986	0.37501	0.15422364	0.34918	0.16115986	0.37500	-3.83	0.21253	T	.	.	0.108	0.20313	B	.	.	3.664333	0.52068	23.2	0.99360921978537375	0.60987	0.93602	0.58667	D	AEFBI	0.485667	0.52516	N	0.31610546893752	0.56975	3.863271	0.390190990393839	0.60959	4.289605	0.999997023525818	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.87	5.87	0.94266	2.614000	0.46024	11.312000	0.92460	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	1.0:0.0:0.0:0.0	13.629	0.61651	34	0.98095	.	PLEKHG4|PLEKHG4|SLC7A6	Brain_Cerebellum|Brain_Cortex|Thyroid	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3271.08	33	chr16	67304454	.	A	T	3271.08	.	AC=2;AF=0.048;AN=42;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.86;SOR=1.085	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	1	0	0
chr16	67376805	67376805	C	T	exonic	LRRC36	.	nonsynonymous SNV	LRRC36:NM_001161575:exon8:c.C1376T:p.T459M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.07	B	0.015	B	0.536	N	1.000	N	0	N	3.18	T	-0.945	T	0.010	T	0.077	0.975	8.979	1.02	0.630	-0.099	1.296	0.049	0.0035065600798	.	0.000998403	0.0005	9.61e-05	0	0	0	0	0	0.0038	0.0004398	68	154602	rs528698800	0.0002	0.0002	0.0001	0.0003	0.0033	0.0002	0.0002	0.0029	0.0028	2.987e-05	0	0	2.519e-05	0	0	6.296e-06	0.0001	0.0033	0.0001	0.0001	5.14e-05	0.0002	0.0041	8.66e-05	7.253e-05	0.0027	0.0023	0	0	0	0	0	0	0	0	0	0.0041	0.234	0.19430	T	0.058	0.46182	T	0.029	0.23866	B	0.015	0.17295	B	0.535726	0.11589	N	0.811699	1	0.08975	N	-0.345	0.03330	N	3.18	0.18414	T	-0.1	0.12661	N	0.078	0.15328	-0.9454	0.41748	T	0.010	0.03492	T	10	0.002556324	0.00039	T	0.003507	0.07969	T	0.049	0.13647	0.089	0.00982	0.115124310173	0.11017	0.10759070987286498	0.10688	0.247808654017	0.27336	0.27490311861	0.06792	T	0.002616	0.02004	T	-0.693311	0.00040	T	-0.770776	0.02743	T	0.0159900699703399	0.00381	T	0.573543	0.20534	T	0.013121278	0.00050	0.035443377	0.02798	0.013121278	0.00050	0.035443377	0.02798	-4.462	0.31356	T	.	.	0.116	0.23500	B	.;.	.;.	0.454113	0.08239	4.981	0.84181126834043829	0.15143	0.01526	0.05029	N	AEFGBI	0.067414	0.13251	N	-1.15548707195649	0.05690	0.2600559	-1.12035802260579	0.07311	0.3551716	0.068642890552299	0.15464	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.52	1.02	0.19102	-0.052000	0.11821	0.348000	0.17448	-0.313000	0.06017	0.000000	0.06391	0.000000	0.08366	0.177000	0.21203	0.1613:0.4501:0.1771:0.2115	1.296	0.01944	22	0.98466	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1082.98	33	chr16	67376805	.	C	T	1082.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.509;DP=775;ExcessHet=0.0000;FS=4.729;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.04;ReadPosRankSum=-1.695e+00;SOR=0.734	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr16	67391032	67391032	C	G	exonic	TPPP3	.	nonsynonymous SNV	TPPP3:NM_015964:exon2:c.G80C:p.G27A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.92	P	0.9	P	0.000	D	1.000	D	2.47	M	0.97	T	-0.709	T	0.258	T	0.706	4.356	22.9	5.03	2.619	7.651	17.530	0.225	0.0175555925362	7.7e-05	0.000199681	0.0002	0	0	0	0	2.997e-05	0	0.0012	0.0001423	22	154602	rs374128583	8.345e-05	8.345e-05	5.173e-05	0.0001	0.0012	7.136e-05	6.684e-05	0.0010	0.0009	0	4.472e-05	0	0	0	0.0002	1.079e-05	8.279e-05	0.0012	0.0003	0.0003	0.0003	0.0003	0.0014	0.0002	0.0002	0.0007	0.0005	0	0.0373	0.0001	0	0	0	0	4.41e-05	0	0.0014	0.217	0.19157	T	0.307	0.19908	T	0.92	0.51019	P	0.9	0.63913	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.575	0.75298	M	0.97	0.42502	T	-2.68	0.57275	D	0.774	0.77132	-0.7094	0.59982	T	0.258	0.62856	T	10	0.016255498	0.00342	T	0.017556	0.39307	T	0.225	0.52323	.	.	0.694760578824	0.69213	0.692613586177605	0.69201	1.20030349719	0.80521	0.683516919613	0.64774	T	0.162504	0.50720	T	-0.237366	0.15686	T	-0.159288	0.58416	T	0.314158111810684	0.25584	T	0.930207	0.74183	D	0.4088852	0.61342	0.35810456	0.61293	0.4088852	0.61343	0.35810456	0.61292	-7.235	0.55732	T	.	.	0.593	0.68582	P	.;.;.;.	.;.;.;.	4.674650	0.74743	26.2	0.99769667756163649	0.85750	0.99124	0.91578	D	AEFDGBI	0.971139	0.99327	D	0.712171588351429	0.80429	7.292512	0.695722111608981	0.82053	7.672894	0.999999999999999	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.03	5.03	0.67015	7.905000	0.86479	7.626000	0.62520	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.530	0.87709	21	0.98493	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1728.98	33	chr16	67391032	.	C	G	1728.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.217e+00;DP=872;ExcessHet=0.0000;FS=0.613;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=-5.040e-01;SOR=0.631	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr16	67649600	67649600	C	G	exonic	CARMIL2	.	nonsynonymous SNV	CARMIL2:NM_001013838:exon20:c.C1900G:p.R634G	.	.	.	.	.	.	.	.	.	.	.	1384906	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.835	P	0.274	B	0.005	N	0.732	N	0.895	L	0.86	T	-0.973	T	0.061	T	0.467	2.475	14.23	4.11	1.108	2.110	8.927	0.084	0.0149965868522	.	0.000798722	0.0002	0.0018	0.0002	0	0	0	0	0	0.0001294	20	154602	rs201500298	5.732e-05	5.541e-05	5.842e-05	5.621e-05	0.0020	4.689e-05	4.344e-05	0.0016	0.0014	0.0020	7.048e-05	0	0	0	0.0002	1.854e-06	0.0002	1.169e-05	0.0003	0.0003	0.0005	0.0002	0.0012	0.0003	0.0002	0.0010	0.0009	0.0012	0	0.0001	0	0	0	0	0	0	0	0.021	0.50132	D	0.02	0.59732	D	0.016	0.17332	B	0.005	0.11217	B	0.005013	0.33181	N	0.277445	0.78653	0.29822	N	.	.	.	0.86	0.46777	T	-3.97	0.73684	D	0.313	0.35301	-0.9733	0.36496	T	0.061	0.25635	T	10	0.021226525	0.00504	T	0.014997	0.35474	T	0.084	0.24469	.	.	0.344251166708	0.34027	0.6170914291753081	0.61641	1.15342620932	0.79294	0.353585422039	0.18449	T	0.319288	0.69059	T	-0.379401	0.03143	T	-0.342387	0.40074	T	0.0841879625858921	0.10514	T	0.606339	0.29175	T	0.40946925	0.61382	0.22517768	0.47454	0.40946925	0.61383	0.22517768	0.47453	-5.054	0.38002	T	0.2306740502528228	0.31213	0.169	0.37198	B	.;.	.;.	3.729525	0.53338	23.4	0.99345898515015696	0.60371	0.90803	0.52290	D	AEFDBI	0.546635	0.56066	D	-0.0709832661320852	0.38669	2.268372	0.0360307445611457	0.41401	2.486705	0.999997442847632	0.74766	0.741868	0.97996	0	0.643519	0.57511	0	0.774882	0.98623	0	0.63947	0.58350	0	.	.	5.09	4.11	0.47350	2.696000	0.46719	2.201000	0.31287	0.599000	0.40250	1.000000	0.71638	0.985000	0.30750	0.996000	0.76049	0.15:0.7709:0.0:0.079	8.927	0.34808	45	0.97767	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	868.98	33	chr16	67649600	.	C	G	868.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=769;ExcessHet=0.0000;FS=2.204;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.25;ReadPosRankSum=0.246;SOR=0.446	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,983	20	0	1	0
chr16	67657801	67657801	G	C	exonic	ACD	.	nonsynonymous SNV	ACD:NM_001082486:exon11:c.C1259G:p.P420R	.	.	.	.	.	.	.	.	.	.	.	1827442	Dyskeratosis_congenita,_autosomal_dominant_6|Inborn_genetic_diseases	MONDO:MONDO:0014690,MedGen:C4225284,OMIM:616553,Orphanet:3322|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.982	D	0.829	P	0.377	N	1.000	N	1.7	L	1.48	T	-1.056	T	0.112	T	0.349	3.409	17.51	2.64	1.127	1.188	6.357	0.065	0.0271871235519	.	.	1.65e-05	0	0	0	0	3.003e-05	0	0	1.94e-05	3	154602	rs750023370	1.095e-05	1.094e-05	5.445e-06	1.65e-05	0.0002	6.48e-06	5.24e-06	5.31e-06	3.88e-06	0	0	0	0	0	0.0002	9.892e-06	4.968e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.60972	D	0.969	0.60036	D	0.68	0.59562	P	0.376969	0.13444	N	0.680225	0.999938	0.19363	N	2.255	0.64187	M	.	.	.	.	.	.	0.438	0.47672	-1.0560	0.12776	T	0.112	0.40122	T	10	0.18436	0.33807	T	0.027187	0.50027	D	0.065	0.18881	0.427	0.47350	0.572173585829	0.56884	0.12097539796430509	0.12024	0.412054783873	0.41956	0.324243724346	0.14064	T	0.371108	0.73553	T	-0.130069	0.31485	T	-0.409125	0.32325	T	0.824330747127533	0.48096	D	0.733327	0.35462	T	0.11731527	0.27659	0.14104538	0.33602	0.11731527	0.27659	0.14104538	0.33601	.	.	.	0.7696368426926695	0.85074	0.150	0.43102	B	.;.;.;.;.;.	.;.;.;.;.;.	3.249643	0.44396	21.9	0.99786898313531358	0.87308	0.19153	0.20548	N	AEFDGBCI	0.142833	0.26538	N	0.083603855078002	0.45698	2.822056	-0.00847773803459684	0.39330	2.330327	0.999966026223724	0.48965	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.76	2.64	0.30504	1.365000	0.33786	3.553000	0.39056	0.618000	0.50648	0.022000	0.19841	0.930000	0.28522	0.984000	0.60418	0.1016:0.0:0.7176:0.1808	6.357	0.20611	43	0.97828	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1338.98	42	chr16	67657801	.	G	C	1338.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.236e+00;DP=923;ExcessHet=0.0000;FS=0.620;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.30;ReadPosRankSum=-1.045e+00;SOR=0.768	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr16	67658960	67658960	T	C	exonic	ACD	.	nonsynonymous SNV	ACD:NM_001082486:exon7:c.A613G:p.T205A	.	.	430	1088	3	1	0	5	0.00229253	.	.	530106	not_specified|ACD-related_disorder|not_provided|Dyskeratosis_congenita,_autosomal_dominant_6	MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0014690,MedGen:C4225284,OMIM:616553,Orphanet:3322	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.996	D	0.99	D	0.000	D	1.000	N	1.04	L	0.21	T	-0.775	T	0.259	T	0.638	4.042	20.7	4.96	1.851	3.851	11.026	0.362	0.11067431758	0.0010	0.000998403	0.0015	0.0002	0.0006	0	0	0.0015	0.0011	0.0042	0.0013777	213	154602	rs139438549	0.0012	0.0012	0.0011	0.0014	0.0044	0.0012	0.0012	0.0040	0.0039	0.0001	0.0007	0.0033	0	0	0.0024	0.0011	0.0012	0.0044	0.0011	0.0011	0.0010	0.0011	0.0044	0.0009	0.0009	0.0029	0.0025	0.0002	0.0373	0.0010	0.0023	0	0	0	0.0011	0.0009	0.0044	.	.	.	0.014	0.62352	D	0.993	0.68779	D	0.978	0.78936	D	0.000104	0.50451	D	0.082287	0.999977	0.18612	N	2.25	0.63811	M	.	.	.	.	.	.	0.499	0.53620	-0.7753	0.56565	T	0.259	0.62999	T	10	0.004820019	0.00102	T	0.110674	0.78815	D	0.362	0.68230	.	.	0.846853498578	0.84538	0.6155730349153837	0.61489	0.450995672873	0.44860	0.410301268101	0.26498	T	0.724472	0.92239	D	-0.251301	0.13939	T	-0.133897	0.60642	T	0.0913144573569298	0.11373	T	0.728227	0.34274	T	0.67759454	0.76840	0.58441406	0.75902	0.8596595	0.88061	0.54078	0.73460	.	.	.	0.8377694817202448	0.90702	0.456	0.65780	A	.;.;.;.;.;.	.;.;.;.;.;.	3.822991	0.55215	23.6	0.99520996860738109	0.69222	0.67895	0.33599	D	AEFDGBCI	0.373121	0.45851	N	0.225927322891359	0.52458	3.419881	0.141210490154682	0.46678	2.909948	0.999999985881756	0.74766	0.741868	0.97996	0	0.672317	0.65289	0	0.774882	0.98623	0	0.735409	0.98432	0	.	.	4.96	4.96	0.65153	2.605000	0.45947	6.123000	0.53812	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	0.624000	0.32000	0.0:0.0:0.0:1.0	11.026	0.46963	43	0.97828	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2141.98	35	chr16	67658960	.	T	C	2141.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.358e+00;DP=930;ExcessHet=0.0000;FS=1.764;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=1.06;SOR=0.826	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr16	67662391	67662391	G	A	exonic	PARD6A	.	nonsynonymous SNV	PARD6A:NM_001037281:exon3:c.G782A:p.R261H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.998	D	0.813	P	0.030	N	0.995	D	0.835	L	1.09	T	-0.972	T	0.136	T	0.284	2.836	15.45	4.48	2.311	1.019	16.938	0.096	0.0115209059921	.	.	2.484e-05	0	8.658e-05	0	0	3.02e-05	0	0	2.59e-05	4	154602	rs751778776	1.437e-05	1.436e-05	1.906e-05	9.627e-06	0.0007	9.23e-06	7.84e-06	0.0002	0.0001	0	2.236e-05	0	7.557e-05	0	0.0007	8.993e-06	3.312e-05	1.159e-05	3.285e-05	3.283e-05	5.137e-05	1.345e-05	0.0001	1.261e-05	7.98e-06	2.26e-05	1.032e-05	7.236e-05	0	0.0001	0	0	0	0	0	0	0	0.145	0.25154	T	0.081	0.41742	T	0.998	0.73220	D	0.813	0.58748	P	0.029791	0.25403	N	0.398167	0.995449	0.42694	D	0.695	0.17993	N	1.09	0.39401	T	-0.7	0.19933	N	0.095	0.07535	-0.9718	0.36819	T	0.136	0.45241	T	10	0.15388066	0.29038	T	0.011521	0.29227	T	0.096	0.27654	0.269	0.21735	0.485221517782	0.48155	0.2488384063575027	0.24797	0.99589291935	0.74233	0.481626570225	0.36281	T	0.144051	0.48047	T	-0.20072	0.20701	T	-0.443231	0.28448	T	0.418586015782784	0.29638	T	0.80032	0.45098	T	0.062406648	0.13029	0.036939654	0.03242	0.062406648	0.13029	0.036939654	0.03241	-4.791	0.34487	T	.	.	0.078	0.06756	B	.;.;.	.;.;.	2.779824	0.36511	20.3	0.99910873346868256	0.98022	0.88192	0.48011	D	AEFBI	0.444026	0.50109	N	0.243980748198499	0.53342	3.503481	0.248537500616888	0.52566	3.430666	0.999999959002792	0.74766	0.740716	0.97744	0	0.743671	0.97443	0	0.0	0.00061	3	0.592323	0.36904	0	.	.	4.48	4.48	0.53973	1.688000	0.37308	3.411000	0.38190	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.797000	0.37605	0.0:0.0:1.0:0.0	16.938	0.86078	42	0.97857	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1929.98	147	chr16	67662391	.	G	A	1929.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.230e-01;DP=881;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.13;ReadPosRankSum=1.03;SOR=0.671	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1226	20	0	1	0
chr16	67665166	67665166	T	C	exonic	ENKD1	.	nonsynonymous SNV	ENKD1:NM_032140:exon3:c.A283G:p.K95E,	.	.	410	1111	1	0	0	1	0.000449843	.	.	2354253	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.325	B	0.025	B	0.000	D	0.997	D	2.045	M	.	.	-0.711	T	0.216	T	0.433	2.728	15.08	5.38	2.051	1.612	15.052	0.092	0.010586394764	.	0.000399361	0.0001	0	0.0003	0	0	0.0002	0	0.0001	0.0001164	18	154602	rs543005933	7.274e-05	7.251e-05	6.553e-05	8.001e-05	0.0019	6.133e-05	5.717e-05	0.0011	0.0008	0.0001	0.0002	0	0	0	0.0019	6.216e-05	0.0002	4.661e-05	0.0001	0.0001	0.0001	9.404e-05	0.0003	7.09e-05	5.746e-05	8.877e-05	5.386e-05	2.408e-05	0	0.0003	0	0	0	0.0102	0.0001	0.0005	0	0.032	0.44694	D	0.091	0.59159	T	0.325	0.33132	B	0.025	0.20508	B	0.000026	0.55875	D	0.122605	0.996669	0.43340	D	2.42	0.70002	M	.	.	.	-1.7	0.40468	N	0.41	0.53269	-0.7107	0.59918	T	0.216	0.57771	T	9	0.083515316	0.13901	T	0.010586	0.27302	T	0.092	0.26621	.	.	0.527660502957	0.52413	0.3085008072442692	0.30763	0.819490523936	0.67094	0.471978664398	0.34952	T	0.055332	0.29977	T	-0.210888	0.19253	T	-0.266403	0.48183	T	0.120495304126284	0.14478	T	0.752925	0.37500	T	0.29643542	0.52583	0.25471792	0.51142	0.29643542	0.52583	0.25471792	0.51141	-3.569	0.17410	T	.	.	0.163	0.49324	B	.;.	.;.	3.587857	0.50608	23.0	0.99662666495041397	0.78074	0.89991	0.50828	D	AEFBI	0.428837	0.49220	N	0.0379725828589267	0.43589	2.648956	0.145358946954977	0.46898	2.928289	0.999999113996977	0.74766	0.651	0.46895	0	0.633656	0.55848	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	5.38	5.38	0.77279	0.872000	0.27688	7.871000	0.71963	0.661000	0.55757	0.761000	0.29254	1.000000	0.68203	0.954000	0.50415	0.0:0.0:0.0:1.0	15.052	0.71542	41	0.97903	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1261.98	36	chr16	67665166	.	T	C	1261.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.190e+00;DP=784;ExcessHet=0.0000;FS=3.127;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.18;ReadPosRankSum=1.09;SOR=0.418	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1153	20	0	1	0
chr16	67814372	67814372	C	T	exonic	TSNAXIP1	.	nonsynonymous SNV	TSNAXIP1:NM_001288990:exon2:c.C118T:p.R40C	.	.	423	1063	34	2	0	38	0.0175601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.003	B	0.001	B	.	.	1.000	N	.	.	.	.	-1.007	T	0.066	T	0.058	1.714	11.69	-1.32	-0.185	0.091	3.487	0.031	.	.	0.00259585	0.0109	0.0072	0.0054	0	0	0.0075	0.0076	0.0133	0.001119	173	154602	rs548824636	0.0018	0.0017	0.0014	0.0023	0.0144	0.0018	0.0018	0.0137	0.0134	0.0002	0.0009	0.0116	5.597e-05	0	0.0135	0.0008	0.0027	0.0144	0.0014	0.0014	0.0011	0.0017	0.0130	0.0012	0.0012	0.0105	0.0095	0.0002	0	0.0007	0.0110	0	0	0.0102	0.0012	0.0024	0.0130	0.003	0.72154	D	0.012	0.79402	D	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-1.65	0.58085	N	0.128	0.12198	-1.0072	0.27789	T	0.066	0.27087	T	7	0.0036321282	0.00066	T	.	.	.	0.031	0.07369	0.243	0.17677	0.107399877778	0.10242	0.27228320694232	0.27141	.	.	.	.	.	.	.	.	-0.636742	0.00087	T	-0.675088	0.07286	T	0.00696711036585465	0.00079	T	0.756024	0.37907	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.25495	B	.;.;.;.	.;.;.;.	1.434276	0.18528	13.79	0.92367587132288642	0.21773	0.04135	0.09617	N	AEFBI	0.079038	0.15958	N	-1.20080847553611	0.04989	0.2264046	-1.27139982614014	0.04822	0.2283614	0.938086030264572	0.27327	0.632932	0.41330	0	0.588066	0.40923	0	0.601832	0.32385	0	0.567892	0.33627	0	.	.	3.99	-1.32	0.08721	-0.058000	0.11707	-0.539000	0.08593	-0.861000	0.02628	0.136000	0.23442	0.000000	0.08366	0.358000	0.25841	0.1735:0.435:0.0:0.3915	3.487	0.07186	8	0.99202	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	616.98	34	chr16	67814372	.	C	T	616.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.26;DP=796;ExcessHet=0.0000;FS=1.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.30;ReadPosRankSum=0.387;SOR=0.886	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1236	20	0	1	0
chr16	67842901	67842901	-	GC	exonic	THAP11	.	frameshift insertion	THAP11:NM_020457:exon1:c.347_348insGC:p.Q117Hfs*49,	.	.	372	1146	3	0	1	4	0.00130719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1258389665	3.135e-05	3.8e-05	3.461e-05	2.806e-05	0.0003	2.39e-05	2.134e-05	0.0002	0.0002	0	0.0003	0.0002	7.677e-05	1.94e-05	0	8.196e-06	6.759e-05	9.918e-05	8.111e-05	9.262e-05	6.61e-05	9.682e-05	0.0005	4.617e-05	3.607e-05	0.0002	0.0002	2.59e-05	0	0.0005	0.0003	0.0002	0	0	2.966e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	105.94	34	chr16	67842901	.	A	AGC	105.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.740e-01;DP=812;ExcessHet=0.0000;FS=8.243;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.71;MQRankSum=-4.249e+00;QD=3.12;ReadPosRankSum=0.929;SOR=2.732	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,922	20	0	1	0
chr16	67842902	67842902	-	CAGCAGCAGCAGCAGCAACAGCAGCAG	exonic	THAP11	.	nonframeshift insertion	THAP11:NM_020457:exon1:c.348_349insCAGCAGCAGCAGCAGCAACAGCAGCAG:p.Q132_S133insQQQQQQQQQ,	.	.	0	219	4	0	3	7	0.00904977	.	.	1544425	THAP11-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0005	0.0028	0.0046	0.0006	0.0017	0.0037	0.0055	0.0001153	3	26028	.	0.0017	0.0038	0.0016	0.0018	0.0054	0.0016	0.0016	0.0050	0.0048	0.0009	0.0012	0.0005	0.0043	0.0010	0.0025	0.0014	0.0016	0.0054	0.0026	0.0026	0.0025	0.0026	0.0063	0.0023	0.0023	0.0044	0.0038	0.0017	0	0.0019	0.0003	0.0057	0.0011	0.0035	0.0031	0.0034	0.0063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1445.05	34	chr16	67842902	.	A	ACAGCAGCAGCAGCAGCAACAGCAGCAG,AGCAGCAACAGCAGCAACAGCAGCAGCAGCAGCAACAGCAGCAG	1445.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.798;DP=823;ExcessHet=0.1072;FS=1.964;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=59.43;MQRankSum=0.00;QD=18.53;ReadPosRankSum=0.891;SOR=0.957	GT:AD:DP:GQ:PL	0/0:33,0,0:33:99:0,99,922,99,922,922	19	0	1	0
chr16	67842902	67842902	-	GCAGCAACAGCAGCAACAGCAGCAGCAGCAGCAACAGCAGCAG	exonic	THAP11	.	frameshift insertion	THAP11:NM_020457:exon1:c.348_349insGCAGCAACAGCAGCAACAGCAGCAGCAGCAGCAACAGCAGCAG:p.Q117Afs*137,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1445.05	34	chr16	67842902	.	A	ACAGCAGCAGCAGCAGCAACAGCAGCAG,AGCAGCAACAGCAGCAACAGCAGCAGCAGCAGCAACAGCAGCAG	1445.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.798;DP=823;ExcessHet=0.1072;FS=1.964;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=59.43;MQRankSum=0.00;QD=18.53;ReadPosRankSum=0.891;SOR=0.957	GT:AD:DP:GQ:PL	0/0:33,0,0:33:99:0,99,922,99,922,922	19	0	1	0
chr16	67842923	67842923	-	CAG	exonic	THAP11	.	nonframeshift insertion	THAP11:NM_020457:exon1:c.369_370insCAG:p.Q132_S133insQ,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	8936.32	34	chr16	67842920	.	ACAG	A,ACAGCAG	8936.32	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=0.124;DP=1180;ExcessHet=0.9430;FS=4.197;InbreedingCoeff=0.0101;MLEAC=8,1;MLEAF=0.190,0.024;MQ=59.99;MQRankSum=0.00;QD=16.55;ReadPosRankSum=0.922;SOR=1.032	GT:AD:DP:GQ:PL	0/0:33,0,0:33:99:0,99,922,99,922,922	13	1	6	0
chr16	67930008	67930008	C	G	exonic	CTRL	.	nonsynonymous SNV	CTRL:NM_001907:exon7:c.G721C:p.V241L,	.	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.099	B	0.152	B	0.916	N	1.000	N	0.8	N	.	.	-0.987	T	0.090	T	0.319	1.514	11.01	3.74	1.407	-0.274	10.246	0.045	0.0526499499842	.	.	2.471e-05	0	0	0	0	1.498e-05	0	0.0001	1.94e-05	3	154602	rs770518482	1.368e-05	1.368e-05	8.167e-06	1.925e-05	0.0012	8.94e-06	7.26e-06	0.0006	0.0004	0	0	0	0	0	0.0012	8.093e-06	1.656e-05	3.478e-05	1.314e-05	1.312e-05	0	2.687e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	0.338	0.18125	T	0.099	0.25639	B	0.152	0.34249	B	0.916407	0.08518	N	0.956262	1	0.08975	N	-0.23	0.03940	N	-2.37	0.88220	D	.	.	.	0.209	0.23253	-0.9872	0.33298	T	0.090	0.34628	T	9	0.08993843	0.15624	T	0.05265	0.65157	D	.	.	0.377	0.39156	0.882374768104	0.88121	0.4038745025799069	0.40303	0.335138000501	0.35522	0.364680320024	0.20065	T	0.150364	0.48981	T	-0.25568	0.13411	T	-0.402389	0.33106	T	0.116789884865284	0.14113	T	0.80432	0.45191	T	0.19814475	0.41706	0.14077641	0.33547	0.19814475	0.41706	0.14077641	0.33546	-5.805	0.44618	T	.	.	0.346	0.56311	A	.	.	1.896861	0.24095	16.27	0.96805255960920866	0.31165	0.28545	0.23583	N	AEFGBCI	0.142451	0.26489	N	-0.668720216491396	0.16917	0.866111	-0.63182631094252	0.18677	0.9988207	0.999559552849106	0.40362	0.631515	0.41029	0	0.697927	0.68747	0	0.696353	0.63694	0	0.491896	0.07777	0	.	.	5.74	3.74	0.42108	-0.374000	0.07541	1.104000	0.24096	0.549000	0.26987	0.000000	0.06391	0.521000	0.25309	0.687000	0.33748	0.0:0.7355:0.0:0.2645	10.246	0.42521	8	0.99202	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1655.98	37	chr16	67930008	.	C	G	1655.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=838;ExcessHet=0.0000;FS=1.311;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.19;ReadPosRankSum=-6.430e-01;SOR=0.855	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1182	20	0	1	0
chr16	67930999	67930999	C	T	exonic	CTRL	.	nonsynonymous SNV	CTRL:NM_001907:exon3:c.G157A:p.D53N,	.	.	408	1113	1	0	0	1	0.000449035	0.7332	0.23	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.787	P	0.561	P	0.172	U	0.992	D	-1.01	N	.	.	-1.028	T	0.057	T	0.151	3.849	19.55	1.95	0.674	0.150	5.354	0.095	.	.	.	1.656e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs773224403	1.163e-05	1.163e-05	6.807e-06	1.65e-05	0.0003	7.09e-06	5.79e-06	6.092e-05	4.042e-05	0	0	0	0	0	0.0003	4.496e-06	1.656e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.408	0.14633	T	0.787	0.44504	P	0.561	0.49582	P	0.171986	0.03117	U	1.859930	0.991632	0.41436	D	0.44	0.12706	N	-3.09	0.92613	D	.	.	.	0.293	0.33140	-1.0275	0.21266	T	0.057	0.24130	T	9	0.122272104	0.23193	T	0.049004	0.63623	D	.	.	0.461	0.52916	0.948121439518	0.94758	0.5750932305918683	0.57438	0.146554516789	0.16541	0.398786664009	0.24900	T	0.114517	0.62975	T	-0.169038	0.25381	T	-0.243919	0.50415	T	0.137376003252387	0.16047	T	0.831417	0.66064	T	0.08444336	0.19544	0.051831897	0.08422	0.08444336	0.19543	0.051831897	0.08421	-6.664	0.51539	T	.	.	0.234	0.50035	B	.;.	.;.	4.212039	0.63645	24.6	0.98043921940568768	0.37812	0.36121	0.25460	N	AEFDBHCI	0.194400	0.32148	N	-0.496120584046549	0.22207	1.18416	-0.488793594917062	0.22461	1.220112	0.99272565551245	0.32945	0.67177	0.52595	0	0.702456	0.74545	0	0.489635	0.07774	0	0.714379	0.83352	0	.	.	5.3	1.95	0.25130	0.156000	0.16200	3.233000	0.36920	0.599000	0.40250	0.036000	0.20778	1.000000	0.68203	0.973000	0.55318	0.1202:0.4336:0.3511:0.0951	5.354	0.15353	8	0.99202	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1519.98	37	chr16	67930999	.	C	T	1519.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.445;DP=881;ExcessHet=0.0000;FS=4.195;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=-3.130e-01;SOR=0.413	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1182	20	0	1	0
chr16	67949822	67949822	T	C	exonic	SLC12A4	.	nonsynonymous SNV	SLC12A4:NM_001145962:exon12:c.A1732G:p.M578V	.	.	.	.	.	.	.	.	.	.	.	2379323	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.67	T	0.171	B	0.096	B	0.000	D	1.000	D	-1.305	N	-4.98	D	0.420	D	0.715	D	0.882	1.778	11.90	5.58	2.131	2.621	15.752	0.520	0.0905547247844	.	.	6.774e-05	0	0	0	0	0	0	0.0005	5.17e-05	8	154602	rs749137904	5.148e-05	5.13e-05	3.005e-05	7.312e-05	0.0008	4.206e-05	3.836e-05	0.0007	0.0006	0	0	0	0	0	0	1.802e-06	1.663e-05	0.0008	3.287e-05	3.284e-05	3.854e-05	2.692e-05	0.0008	1.261e-05	7.98e-06	0.0003	0.0002	2.414e-05	0	0	0	0	0	0	0	0	0.0008	0.49	0.08018	T	0.508	0.10967	T	0.004	0.12183	B	0.002	0.06944	B	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.25	0.03863	N	-4.98	0.98487	D	-0.53	0.16393	N	0.721	0.74735	0.420	0.89391	D	0.715	0.90232	D	10	0.2277033	0.39656	T	0.090555	0.75541	D	0.520	0.79583	0.525	0.62967	0.65752205066	0.65465	0.8212270884069841	0.82079	0.342599719187	0.36191	0.755134224892	0.75205	T	0.402748	0.75968	T	0.162428	0.70425	D	0.360839	0.90734	D	0.0716261717118328	0.08877	T	0.736326	0.35288	T	0.36711177	0.58371	0.2928824	0.55316	0.36711177	0.58371	0.2928824	0.55315	-4.833	0.35282	T	.	.	0.116	0.23883	B	.;.;.;.;.;.	.;.;.;.;.;.	3.074910	0.41348	21.3	0.94087174750063374	0.24241	0.89576	0.50129	D	AEFGBCI	0.719422	0.67031	D	-0.436360710950326	0.24204	1.305323	-0.135375828430811	0.33975	1.949287	0.999999999207186	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.58	5.58	0.84361	2.584000	0.45768	2.950000	0.35708	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.752	0.77759	8	0.99202	Amino acid permease/ SLC12A domain;.;Amino acid permease/ SLC12A domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1121.98	36	chr16	67949822	.	T	C	1121.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.435e+00;DP=804;ExcessHet=0.0000;FS=0.758;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=-8.360e-01;SOR=0.613	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1430	20	0	1	0
chr16	67968592	67968592	-	CCCGCCGCTGTC	exonic	SLC12A4	.	nonframeshift insertion	SLC12A4:NM_001145962:exon1:c.62_63insGACAGCGGCGGG:p.G21_G22insTAAG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	1.94e-05	3	154602	rs774280757	0.0027	0.0026	0.0026	0.0028	0.0090	0.0026	0.0026	0.0085	0.0082	0.0003	0.0003	4.635e-05	3.584e-05	0.0003	0.0029	0.0026	0.0025	0.0090	0.0018	0.0019	0.0017	0.0020	0.0163	0.0017	0.0016	0.0134	0.0123	0.0009	0.0011	0.0003	0	0.0004	9.56e-05	0.0034	0.0022	0.0033	0.0163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	796.94	35	chr16	67968592	.	G	GCCCGCCGCTGTC	796.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.966e+00;DP=800;ExcessHet=0.0000;FS=3.850;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.53;ReadPosRankSum=-8.880e-01;SOR=0.235	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr16	67976199	67976199	G	A	exonic	DPEP3	.	nonsynonymous SNV	DPEP3:NM_001129758:exon9:c.C1121T:p.T374I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.943	P	0.706	P	0.000	D	0.901	N	2.75	M	1.92	T	-0.905	T	0.124	T	0.306	3.807	19.33	1.3	0.636	2.386	12.201	0.167	0.00847041090907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	3.42e-06	2.722e-06	4.125e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.37536	T	0.069	0.43913	T	.	.	.	.	.	.	0.000040	0.55875	D	0.157169	0.901023	0.27700	N	.	.	.	1.92	0.23082	T	-3.05	0.62976	D	0.439	0.47765	-0.9050	0.47447	T	0.124	0.42715	T	10	0.41063437	0.56199	T	0.00847	0.22407	T	0.167	0.42761	.	.	0.587902264344	0.58465	0.48355837636529136	0.48275	0.355846640087	0.37339	0.457770287991	0.33005	T	.	.	.	-0.127976	0.31824	T	-0.421605	0.30892	T	0.982165277004242	0.74331	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.239494	0.64268	24.7	0.99841825196439571	0.92229	0.88470	0.48413	D	AEFBCI	0.521724	0.54604	D	0.379038178991092	0.60288	4.216076	0.290759984419428	0.54998	3.663492	0.923681613224851	0.26752	0.695654	0.57023	0	0.681609	0.65952	0	0.723109	0.80598	0	0.530356	0.10902	0	.	.	4.71	1.3	0.20778	3.162000	0.50454	6.262000	0.55347	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.3213:0.6787	12.201	0.53633	10	0.99061	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1894.98	33	chr16	67976199	.	G	A	1894.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.238;DP=878;ExcessHet=0.0000;FS=1.229;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.28;ReadPosRankSum=0.364;SOR=0.841	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr16	67991138	67991138	T	C	exonic	DPEP2	.	nonsynonymous SNV	DPEP2:NM_001324159:exon4:c.A235G:p.S79G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.0	B	0.01	B	0.060	N	1.000	D	-0.1	N	2.08	T	-1.034	T	0.021	T	0.191	0.754	7.992	4.34	2.198	1.589	7.477	0.060	0.00482640593218	.	0.00139776	0.0008	0	0	0	0	0	0	0.0062	0.0007244	112	154602	rs552543500	0.0003	0.0003	0.0002	0.0005	0.0053	0.0003	0.0003	0.0049	0.0047	0	0	0	0	0	0.0002	8.993e-07	0.0004	0.0053	0.0002	0.0002	6.423e-05	0.0003	0.0052	0.0001	9.694e-05	0.0036	0.0031	0	0	0	0	0	0	0	0	0	0.0052	0.399	0.10517	T	0.497	0.11299	T	0.0	0.02946	B	0.01	0.14941	B	0.059598	0.22312	N	0.515573	0.998827	0.21877	N	0.04	0.08086	N	2.08	0.20255	T	-1.4	0.34596	N	0.274	0.31478	-1.0335	0.19332	T	0.021	0.08639	T	10	0.010953546	0.00242	T	0.004826	0.12066	T	0.060	0.17295	0.357	0.35897	0.163833314356	0.15978	0.609239818791915	0.60855	.	.	0.397962868214	0.24785	T	0.016292	0.13495	T	-0.245149	0.14698	T	-0.589916	0.13674	T	0.0309694274244703	0.02142	T	0.776522	0.42156	T	0.07428802	0.16661	0.104109585	0.24996	0.07428802	0.16661	0.104109585	0.24995	-4.627	0.32509	T	.	.	0.081	0.11845	B	.;.;.;.	.;.;.;.	2.792446	0.36707	20.3	0.90635254092179729	0.19887	0.69885	0.34366	D	AEFBI	0.207301	0.33349	N	-0.55755673660794	0.20248	1.065968	-0.36034754839767	0.26190	1.445044	0.999987698918764	0.51787	0.615465	0.37627	0	0.633656	0.55848	0	0.59043	0.30614	0	0.613276	0.41899	0	.	.	5.44	4.34	0.51267	2.679000	0.46575	4.180000	0.42331	0.665000	0.62972	0.979000	0.35152	1.000000	0.68203	0.628000	0.32104	0.0:0.0952:0.0:0.9048	7.477	0.26554	10	0.99061	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	448.98	35	chr16	67991138	.	T	C	448.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.231e+00;DP=771;ExcessHet=0.0000;FS=3.375;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=-9.000e-01;SOR=1.596	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1226	20	0	1	0
chr16	67992160	67992160	C	T	exonic	DPEP2	.	nonsynonymous SNV	DPEP2:NM_001369657:exon3:c.G424A:p.D142N	.	.	432	1070	19	1	0	21	0.00971772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.021	B	0.019	N	1.000	D	0.97	L	1.94	T	-1.062	T	0.020	T	0.085	0.205	5.104	3.16	1.337	0.867	6.320	0.025	0.00164522888141	0.0029	0.00139776	0.0027	0.0008	0.0022	0	0.0036	0.0036	0.0044	0.0015	0.0025873	400	154602	rs142359415	0.0028	0.0028	0.0029	0.0028	0.0120	0.0028	0.0027	0.0097	0.0089	0.0005	0.0027	0.0013	0	0.0029	0.0120	0.0031	0.0031	0.0012	0.0029	0.0029	0.0030	0.0028	0.0046	0.0027	0.0026	0.0042	0.0040	0.0006	0.0011	0.0030	0.0009	0	0.0026	0.0170	0.0046	0.0071	0.0010	0.842	0.02796	T	1.0	0.01155	T	0.001	0.07471	B	0.021	0.19346	B	0.018869	0.27384	N	0.415390	0.804486	0.29075	N	0.79	0.19579	N	1.94	0.22678	T	0.14	0.05405	N	0.158	0.16447	-1.0618	0.11312	T	0.020	0.08453	T	10	0.005759686	0.00128	T	0.001645	0.02676	T	0.025	0.05312	.	.	0.226586394389	0.22295	0.4884905136714286	0.48769	.	.	0.316417008638	0.12878	T	0.015481	0.12979	T	-0.625547	0.00102	T	-0.666766	0.07817	T	0.00324620136449302	0.00034	T	0.737326	0.35372	T	0.067462735	0.14612	0.06642359	0.13606	0.067462735	0.14612	0.06642359	0.13605	-3.789	0.20640	T	.	.	0.098	0.29670	B	.;.;.	.;.;.	2.116266	0.26937	17.29	0.76792664957519874	0.11611	0.58015	0.30529	D	AEFDBI	0.149344	0.27342	N	-0.556688396367197	0.20274	1.067604	-0.418316006404348	0.24460	1.339529	0.999906740539098	0.45458	0.615465	0.37627	0	0.633656	0.55848	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	4.11	3.16	0.35406	1.049000	0.30001	1.061000	0.23721	-0.180000	0.10397	1.000000	0.71638	0.228000	0.23763	0.741000	0.35472	0.0:0.7844:0.0:0.2156	6.320	0.20419	10	0.99061	.;.;.	.	.	.	.	rs142359415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1752.98	34	chr16	67992160	.	C	T	1752.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.312;DP=841;ExcessHet=0.0000;FS=5.369;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=-6.930e-01;SOR=1.162	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	20	0	1	0
chr16	68049539	68049539	G	A	exonic	DUS2	.	nonsynonymous SNV	DUS2:NM_001271762:exon3:c.G161A:p.R54K	.	.	431	1088	3	0	0	3	0.00137678	.	.	2689328	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.27	T	1.0	D	0.999	D	0.288	N	1.000	D	2.205	M	1.59	T	-0.850	T	0.217	T	0.613	3.262	16.94	5.05	2.361	7.645	15.323	0.212	0.0250008063682	7.7e-05	0.000199681	0.0004	0	8.637e-05	0	0	0.0002	0	0.0018	0.0003752	58	154602	rs147235496	0.0002	0.0002	0.0002	0.0002	0.0011	0.0002	0.0002	0.0010	0.0009	0	4.472e-05	3.826e-05	2.519e-05	0	0.0005	0.0002	0.0002	0.0011	0.0001	0.0001	0.0001	0.0001	0.0006	7.57e-05	6.276e-05	0.0002	0.0001	0	0	0	0	0	0	0	0.0002	0	0.0006	0.003	0.91255	D	0.036	0.92824	D	0.597	0.90584	P	0.78	0.92359	P	0.288178	0.14818	N	0.638432	0.999999	0.58761	D	1.99	0.53851	M	1.59	0.34648	T	-2.96	0.62343	D	0.602	0.62018	-0.8497	0.51989	T	0.217	0.57980	T	10	0.062436342	0.07982	T	0.025001	0.47983	D	0.212	0.50341	.	.	0.620452040969	0.61737	0.7994408849839622	0.79898	0.724568702851	0.62404	0.648605585098	0.59788	T	0.517329	0.83054	D	-0.262716	0.12584	T	-0.195702	0.55053	T	0.213989717639888	0.21159	T	0.936406	0.77188	D	0.81826746	0.85103	0.6311674	0.78483	0.81826746	0.85104	0.6311674	0.78484	-10.464	0.76640	D	.	.	0.372	0.69645	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.579751	0.72335	25.8	0.94110522974692223	0.24281	0.95262	0.64041	D	AEFDBHCI	0.840740	0.75800	D	0.626127100257961	0.74831	6.200129	0.627635365699703	0.76952	6.587274	0.999999997915186	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.05	5.05	0.67566	7.533000	0.80893	11.640000	0.93781	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:1.0:0.0	15.323	0.73848	14	0.98855	.;.;DUS-like, FMN-binding domain;.;.;DUS-like, FMN-binding domain;DUS-like, FMN-binding domain;.;.;DUS-like, FMN-binding domain;DUS-like, FMN-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1276.98	34	chr16	68049539	.	G	A	1276.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.216;DP=794;ExcessHet=0.0000;FS=7.245;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.02;ReadPosRankSum=0.422;SOR=1.442	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1297	20	0	1	0
chr16	68074037	68074037	G	A	exonic	DUS2	.	nonsynonymous SNV	DUS2:NM_001271763:exon11:c.G709A:p.V237M	.	.	.	.	.	.	.	.	.	.	.	3241176	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.277	B	0.297	B	0.000	D	1.000	D	1.42	L	1.55	T	-1.048	T	0.087	T	0.502	4.197	21.8	4.55	1.328	5.469	13.907	0.105	0.0142052659216	.	.	1.648e-05	0	0	0.0002	0	0	0	0	1.94e-05	3	154602	rs766723286	4.105e-06	4.104e-06	2.723e-06	5.501e-06	0.0001	1.48e-06	9.7e-07	3.348e-05	1.981e-05	0	0	0	0.0001	0	0	0	3.312e-05	0	6.571e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.004	0.72154	D	0.01	0.66756	D	0.146	0.31978	B	0.297	0.40924	B	0.000267	0.46590	D	0.148012	1	0.81001	D	1.465	0.36909	L	1.55	0.29866	T	-2.39	0.52612	N	0.593	0.61256	-1.0481	0.14932	T	0.087	0.33718	T	10	0.28375262	0.45956	T	0.014205	0.34172	T	0.105	0.29889	0.501	0.59304	0.534046140783	0.53055	0.5953682557770247	0.59466	0.367406353895	0.38303	0.592374622822	0.51829	T	0.268077	0.68828	T	-0.237503	0.15670	T	-0.314505	0.43174	T	0.550842513857724	0.34509	D	0.956404	0.83469	D	0.29476598	0.52432	0.2138049	0.45906	0.29476598	0.52432	0.2138049	0.45905	-8.843	0.66681	D	.	.	0.229	0.48938	B	.;.;.	.;.;.	3.903350	0.56875	23.8	0.99831768275324062	0.91370	0.96344	0.68680	D	AEFDBI	0.417233	0.48536	N	0.0783392100410284	0.45453	2.801615	0.196292630820106	0.49643	3.165079	0.999999899137406	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.51	4.55	0.55429	5.637000	0.67528	6.741000	0.56484	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0742:0.0:0.9258:0.0	13.907	0.63347	12	0.98946	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1276.98	38	chr16	68074037	.	G	A	1276.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.256;DP=802;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=0.365;SOR=0.693	GT:AD:DP:GQ:PL	0/1:50,50:100:99:1291,0,1275	20	0	1	0
chr16	68226418	68226418	G	T	exonic	NFATC3	.	nonsynonymous SNV	NFATC3:NM_173165:exon10:c.G3175T:p.A1059S,	.	.	423	1088	11	0	0	11	0.00502972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.002	B	0.230	N	0.990	D	-0.895	N	3.19	T	-0.837	T	0.006	T	0.15	1.103	9.501	-4.51	-0.390	-0.498	0.196	0.055	0.00651170224194	0.0004	.	0.0003	0	0.0005	0	0	0.0004	0.0011	0.0004	0.0003493	54	154602	rs111275665	0.0003	0.0003	0.0003	0.0003	0.0025	0.0003	0.0003	0.0015	0.0012	3.316e-05	0.0006	0.0033	0	0	0.0025	0.0002	0.0009	0.0004	0.0003	0.0003	0.0003	0.0003	0.0008	0.0003	0.0002	0.0005	0.0004	4.812e-05	0	0.0008	0.0017	0	0	0.0068	0.0003	0.0009	0.0004	0.897	0.02442	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.06944	B	0.229674	0.03510	N	1.500930	0.990361	0.41143	D	-0.41	0.02942	N	3.19	0.07353	T	0.15	0.05310	N	0.061	0.03283	-0.8365	0.52878	T	0.006	0.01981	T	10	0.004518777	0.00093	T	0.006512	0.17157	T	0.055	0.15663	.	.	0.158540857583	0.15491	0.11191294183365676	0.11120	0.0663336496429	0.07396	0.277987241745	0.07213	T	0.051608	0.28927	T	-0.540508	0.00333	T	-0.682114	0.06855	T	0.017393563475644	0.00477	T	0.586341	0.21412	T	0.0602972	0.12356	0.03816623	0.03625	0.0602972	0.12356	0.03816623	0.03625	-3.011	0.10300	T	.	.	0.070	0.03443	B	.	.	0.365618	0.07381	4.004	0.70016212451434179	0.09158	0.09298	0.15082	N	AEFBCI	0.054523	0.09922	N	-1.40877679719788	0.02561	0.1132517	-1.3015562529537	0.04411	0.2079675	0.998934656499699	0.38009	0.722319	0.85440	0	0.698795	0.70079	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.85	-4.51	0.03237	-0.480000	0.06639	0.291000	0.16873	-0.113000	0.14837	0.085000	0.22462	0.041000	0.21590	0.940000	0.48062	0.2731:0.2581:0.1679:0.301	0.196	0.00130	12	0.98946	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1195.98	34	chr16	68226418	.	G	T	1195.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.896e+00;DP=802;ExcessHet=0.0000;FS=3.650;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=1.43;SOR=0.467	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1074	20	0	1	0
chr16	68231373	68231373	G	A	exonic	ESRP2	.	nonsynonymous SNV	ESRP2:NM_001365264:exon12:c.C1546T:p.R516W	.	.	421	1091	9	1	0	11	0.00501596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.635	H	2.75	T	-0.652	T	0.137	T	0.94	4.213	21.9	4.84	1.450	9.807	15.051	0.612	0.0618514763516	.	.	6.597e-05	0	0	0	0	6.002e-05	0	0.0002	5.82e-05	9	154602	rs779561626	7.32e-05	7.319e-05	6.806e-05	7.838e-05	0.0026	6.181e-05	5.741e-05	0.0016	0.0013	0	2.237e-05	0	2.519e-05	1.873e-05	0.0026	5.306e-05	0.0002	0.0002	7.23e-05	7.224e-05	5.139e-05	9.42e-05	0.0004	3.972e-05	3.128e-05	7.287e-05	3.34e-05	2.413e-05	0	6.545e-05	0	0	0	0	0.0001	0	0.0004	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.755	0.95055	H	2.75	0.11622	T	-5.56	0.86296	D	0.874	0.87699	-0.6517	0.62640	T	0.137	0.45413	T	10	0.7972486	0.79181	D	0.061851	0.68466	D	0.612	0.84826	0.602	0.73346	0.623049990606	0.61998	0.7892021208604925	0.78872	1.04296655976	0.75860	0.898751854897	0.96301	D	0.460553	0.79769	T	0.065377	0.60282	T	0.156457	0.80588	D	0.955475211143494	0.64517	D	0.99585	0.98562	D	0.7757317	0.82392	0.6503969	0.79546	0.7757317	0.82394	0.6503969	0.79547	-14.803	0.95373	D	0.585350499516456	0.65214	0.628	0.70036	P	.;.	.;.	5.504258	0.91619	32	0.99911837971916095	0.98095	0.96198	0.67985	D	AEFBCI	0.939782	0.94084	D	0.956787738520894	0.94252	12.61468	0.874029858817748	0.94340	12.68385	0.999999999987432	0.74766	0.67177	0.52595	0	0.379588	0.06130	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	5.79	4.84	0.62125	9.940000	0.98890	8.643000	0.77902	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0683:0.0:0.9317:0.0	15.051	0.71530	12	0.98946	RNA recognition motif domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	769.98	33	chr16	68231373	.	G	A	769.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=806;ExcessHet=0.0000;FS=1.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.51;ReadPosRankSum=-3.035e+00;SOR=0.509	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1327	20	0	1	0
chr16	68310396	68310396	T	C	exonic	SLC7A6OS	.	nonsynonymous SNV	SLC7A6OS:NM_032178:exon2:c.A410G:p.Q137R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.932	P	0.726	P	0.000	D	1.000	D	2.39	M	2.08	T	-1.053	T	0.096	T	0.421	4.989	29.2	4.25	2.151	4.717	10.101	0.121	0.0192237268304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.043	0.49942	D	0.932	0.51990	P	0.726	0.55126	P	0.000003	0.62929	D	0.108387	0.99992	0.51308	D	3.235	0.89610	M	2.08	0.20255	T	-1.94	0.45042	N	0.662	0.67132	-1.0530	0.13574	T	0.096	0.36238	T	10	0.6752498	0.70952	D	0.019224	0.41523	T	0.121	0.33580	0.568	0.69034	0.161926535498	0.15789	0.6772868930351148	0.67667	1.51235230355	0.87267	0.54880207777	0.45689	T	0.011891	0.10538	T	-0.0657376	0.42006	T	-0.332204	0.41225	T	0.973099052906036	0.69957	D	0.694431	0.30396	T	0.15586673	0.35205	0.16518836	0.38228	0.15586673	0.35205	0.16518836	0.38227	-3.247	0.13063	T	.	.	0.157	0.34667	B	.	.	4.608637	0.73068	25.9	0.99747652337760673	0.84002	0.83426	0.42544	D	AEFDBCI	0.746460	0.68882	D	0.423386597304331	0.62709	4.491531	0.352004439972016	0.58628	4.034508	0.99999998950841	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.665054	0.64577	0	.	.	4.25	4.25	0.49658	4.817000	0.62340	7.088000	0.57495	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.834000	0.39329	0.0:0.0:0.0:1.0	10.101	0.41675	36	0.98055	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1603.98	34	chr16	68310396	.	T	C	1603.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.868e+00;DP=835;ExcessHet=0.0000;FS=2.464;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.07;ReadPosRankSum=-1.337e+00;SOR=0.680	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1131	20	0	1	0
chr16	68364898	68364898	C	T	exonic	SMPD3	.	nonsynonymous SNV	SMPD3:NM_018667:exon5:c.G1408A:p.A470T,	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.106	B	0.025	B	0.002	N	0.624	D	0.135	N	-1.41	T	-0.751	T	0.206	T	0.096	1.937	12.43	4.63	2.666	1.535	6.501	0.154	0.0170635210108	.	0.000199681	1.666e-05	0	0	0.0001	0	1.515e-05	0	0	1.94e-05	3	154602	rs200518296	1.711e-05	1.71e-05	1.498e-05	1.926e-05	0.0002	1.174e-05	9.92e-06	4.58e-05	3.274e-05	0	2.238e-05	0	0	0	0.0002	1.169e-05	3.313e-05	9.279e-05	1.97e-05	1.968e-05	1.285e-05	2.685e-05	0.0004	5.24e-06	2.45e-06	6.828e-05	2.857e-05	0	0	0	0	0.0004	0	0	1.47e-05	0	0	0.59	0.05808	T	0.621	0.07444	T	0.02	0.18235	B	0.005	0.11217	B	0.001769	0.38052	N	0.289862	0.624097	0.32731	D	0.195	0.09149	N	-1.41	0.80560	T	-0.42	0.14193	N	0.127	0.19861	-0.7512	0.57873	T	0.206	0.56458	T	10	0.03395185	0.01587	T	0.017064	0.38601	T	0.154	0.40340	.	.	0.261638197198	0.25763	0.20292419378786983	0.20209	0.201851073851	0.22596	0.41278886795	0.26843	T	0.185427	0.53840	T	-0.258724	0.13050	T	-0.440288	0.28777	T	0.173656095684008	0.18825	T	0.590441	0.21827	T	0.092719324	0.21759	0.05666178	0.10162	0.092719324	0.21759	0.05666178	0.10161	-4.762	0.34145	T	.	.	0.075	0.05404	B	.;.;.	.;.;.	3.363865	0.46455	22.3	0.97762720057365493	0.35819	0.60998	0.31356	D	ALL	0.056466	0.10442	N	-0.294355767607891	0.29365	1.627827	-0.0627061672663783	0.36945	2.156695	0.99999999977612	0.74766	0.615755	0.39536	0	0.618376	0.53248	0	0.298653	0.05632	1	0.562822	0.20929	0	.	.	5.67	4.63	0.57175	0.992000	0.29268	2.713000	0.34251	0.594000	0.32500	0.554000	0.27377	0.994000	0.32194	0.989000	0.64315	0.0:0.8513:0.0:0.1487	6.501	0.21365	42	0.97857	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	924.98	33	chr16	68364898	.	C	T	924.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.197e+00;DP=794;ExcessHet=0.0000;FS=0.776;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.64;ReadPosRankSum=0.328;SOR=0.579	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,111,1178	20	0	1	0
chr16	68372045	68372045	C	T	exonic	SMPD3	.	nonsynonymous SNV	SMPD3:NM_018667:exon3:c.G137A:p.R46H,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.658	P	0.093	B	0.000	D	0.998	D	0.805	L	0.65	T	-1.080	T	0.071	T	0.229	1.681	11.58	4.28	1.232	2.925	10.931	0.068	0.0181738825233	.	.	1.063e-05	0	0	0	0	0	0	7.35e-05	6.5e-06	1	154602	rs778688383	1.854e-05	1.915e-05	1.639e-05	2.071e-05	0.0003	1.269e-05	1.088e-05	6.548e-05	4.473e-05	0	0	0	0.0002	0	0.0003	9.907e-06	9.971e-05	2.344e-05	1.971e-05	1.97e-05	3.853e-05	0	7.236e-05	5.24e-06	2.45e-06	1.919e-05	1.032e-05	7.236e-05	0	0	0	0	0	0	0	0	0	0.117	0.28271	T	0.267	0.22561	T	0.658	0.40863	P	0.093	0.30104	B	0.000146	0.49130	D	0.244698	0.99815	0.44569	D	1.495	0.37439	L	0.65	0.52642	T	-1.58	0.47175	N	0.148	0.29429	-1.0802	0.07310	T	0.071	0.28969	T	10	0.12764648	0.24275	T	0.018174	0.40143	T	0.068	0.19811	0.18	0.08751	0.362142726121	0.35819	0.5966798779544825	0.59597	0.255454782389	0.28134	0.268745243549	0.05978	T	0.174236	0.52339	T	-0.230089	0.16636	T	-0.384892	0.35148	T	0.309617966413498	0.25399	T	0.90371	0.66210	D	0.16862373	0.37330	0.15868226	0.37045	0.16862373	0.37330	0.15868226	0.37044	-5.263	0.39705	T	.	.	0.084	0.14933	B	.;.;.;.	.;.;.;.	3.128572	0.42264	21.5	0.95961066155168973	0.28300	0.89292	0.49669	D	AEFBI	0.596368	0.59057	D	0.0106147273728416	0.42338	2.549022	0.127540327877499	0.45963	2.850295	0.999999726362354	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.3	4.28	0.50183	2.968000	0.48916	4.935000	0.46163	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.8982:0.0:0.1018	10.931	0.46429	42	0.97857	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1543.98	35	chr16	68372045	.	C	T	1543.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=829;ExcessHet=0.0000;FS=1.503;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.43;ReadPosRankSum=-9.070e-01;SOR=0.522	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1353	20	0	1	0
chr16	68564262	68564262	C	T	exonic	ZFP90	.	nonsynonymous SNV	ZFP90:NM_001305203:exon5:c.C1475T:p.P492L	.	.	378	1143	1	0	0	1	0.000437254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.338	B	0.158	B	.	.	1.000	D	0.1	N	2.27	T	-1.052	T	0.031	T	0.408	4.132	21.3	5.85	2.941	.	18.036	0.147	0.00545758586682	.	.	3.313e-05	0	0.0003	0	0	1.499e-05	0	0	2.59e-05	4	154602	rs759237139	1.847e-05	1.847e-05	2.042e-05	1.65e-05	0.0003	1.265e-05	1.084e-05	0.0002	0.0001	0	0.0003	0	0	0	0	1.079e-05	3.312e-05	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	6.548e-05	2.18e-06	8.2e-07	.	.	0	0	6.548e-05	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.003	0.76473	D	0.338	0.33405	B	0.158	0.34617	B	.	.	.	.	0.999958	0.52396	D	-0.765	0.01685	N	2.27	0.17431	T	-0.64	0.18670	N	0.355	0.41162	-1.0515	0.13981	T	0.031	0.13461	T	9	0.15154734	0.28643	T	0.005458	0.14045	T	0.147	0.38986	0.395	0.42099	0.415564226483	0.41173	0.21993080165350462	0.21909	0.255077741533	0.28099	0.454037129879	0.32496	T	0.036484	0.24122	T	-0.34705	0.04915	T	-0.451577	0.27523	T	0.0986380831924072	0.12207	T	0.394461	0.09873	T	0.105353594	0.24909	0.11755878	0.28378	0.105353594	0.24908	0.11755878	0.28377	-4.196	0.26694	T	.	.	0.189	0.40618	B	.;.;.	.;.;.	4.666208	0.74536	26.2	0.99881206757063912	0.95733	0.00347	0.01793	N	AEFDBHCI	0.523411	0.54702	D	0.0142558190318363	0.42503	2.562162	0.183256159717294	0.48929	3.102481	0.999999985609875	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.602482	0.37289	1	.	.	5.85	5.85	0.93663	3.699000	0.54511	5.981000	0.52169	0.596000	0.33519	0.967000	0.34061	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.036	0.89229	224	0.91330	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1643.98	43	chr16	68564262	.	C	T	1643.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.286e+00;DP=866;ExcessHet=0.0000;FS=5.579;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.78;ReadPosRankSum=-7.060e-01;SOR=0.327	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr16	68822084	68822084	A	G	exonic	CDH1	.	nonsynonymous SNV	CDH1:NM_001317184:exon11:c.A1612G:p.T538A	Endometrial carcinoma, somatic;Gastric cancer, familial diffuse, with or without cleft lip and/or palate, Autosomal dominant;Ovarian carcinoma, somatic	YES	0	1521	1	0	0	1	0.000328623	.	.	1457324	Hereditary_diffuse_gastric_adenocarcinoma|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:26106|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	0.003	B	0.01	B	0.456	N	1.000	N	0.77	N	0.14	T	-0.979	T	0.130	T	0.196	-0.531	1.584	4.21	0.832	-0.083	2.515	0.134	0.0317840558297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.28271	T	0.235	0.24767	T	0.001	0.07471	B	0.002	0.06944	B	0.456499	0.04844	N	1.348280	1	0.08975	N	1.1	0.28011	L	0.14	0.60854	T	-0.44	0.14588	N	0.035	0.27792	-0.9786	0.35322	T	0.130	0.43907	T	10	0.09063172	0.15805	T	0.031784	0.53784	D	0.134	0.36365	0.486	0.56939	0.804625370448	0.80279	0.24054157842991092	0.23968	0.247179053754	0.27258	0.288926303387	0.08766	T	0.359687	0.72605	T	-0.163802	0.26177	T	-0.473067	0.25186	T	0.0457077611768035	0.04731	T	0.0435956	0.00345	T	0.03553879	0.04203	0.035239056	0.02738	0.03553879	0.04202	0.035239056	0.02738	-6.659	0.51501	T	0.08171985185264466	0.04247	0.067	0.03026	B	.;.;.;.;.	.;.;.;.;.	0.090106	0.04941	1.511	0.76694514987543927	0.11572	0.05811	0.11749	N	AEFBI	0.167444	0.29411	N	-0.827891977258328	0.12601	0.6152212	-0.808809796583138	0.14283	0.7454593	0.999955536616111	0.48110	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.34	4.21	0.48984	0.072000	0.14482	2.284000	0.31916	0.743000	0.86499	0.000000	0.06391	0.001000	0.17328	0.031000	0.13245	0.4789:0.298:0.0796:0.1435	2.515	0.04382	334	0.86273	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1749.98	33	chr16	68822084	.	A	G	1749.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.25;DP=826;ExcessHet=0.0000;FS=0.651;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=-2.600e-02;SOR=0.787	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1337	20	0	1	0
chr16	68828263	68828263	G	A	exonic	CDH1	.	nonsynonymous SNV	CDH1:NM_001317184:exon13:c.G2071A:p.V691I	Endometrial carcinoma, somatic;Gastric cancer, familial diffuse, with or without cleft lip and/or palate, Autosomal dominant;Ovarian carcinoma, somatic	YES	.	.	.	.	.	.	.	.	.	150609	not_provided|Hereditary_diffuse_gastric_adenocarcinoma|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified	MedGen:C3661900|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:26106|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.971	D	0.591	P	0.001	D	0.946	N	-0.505	N	-1.04	T	-0.761	T	0.190	T	0.126	1.641	11.45	2.76	0.458	1.111	11.276	0.228	0.0140434405786	.	.	8.237e-06	9.615e-05	0	0	0	0	0	0	3.84e-05	1	26028	rs587781351	1.026e-05	1.026e-05	1.089e-05	9.626e-06	0.0002	6.16e-06	4.89e-06	0.0001	8.675e-05	0.0002	0	0	0	0	0	8.993e-07	8.279e-05	1.159e-05	3.283e-05	3.281e-05	3.854e-05	2.686e-05	9.622e-05	1.26e-05	7.98e-06	3.242e-05	1.91e-05	9.622e-05	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.971	0.57185	D	0.591	0.50479	P	0.000539	0.43581	D	0.000000	0.966766	0.26644	N	-0.13	0.04535	N	-1.04	0.76561	T	-0.08	0.08187	N	0.181	0.19995	-0.7615	0.57324	T	0.190	0.54183	T	10	0.18117097	0.33336	T	0.014043	0.33885	T	0.228	0.52768	0.556	0.67409	0.72085163809	0.71839	0.71783546990474	0.71726	0.272877571369	0.29797	0.6313996315	0.57344	T	0.16855	0.51560	T	-0.25607	0.13365	T	-0.424075	0.30608	T	0.2069177846103	0.20791	T	0.79532	0.51368	T	0.04889869	0.08596	0.044841737	0.05900	0.04889869	0.08596	0.044841737	0.05899	-6.813	0.56031	T	0.12841883047636451	0.13296	0.081	0.09578	B	.;.;.	.;.;.	3.045533	0.40845	21.2	0.98283596933481809	0.39879	0.39717	0.26275	N	AEFBCI	0.206247	0.33253	N	-0.405762416083499	0.25266	1.370309	-0.362474441919875	0.26126	1.441073	0.0208018724913799	0.13292	0.67177	0.52595	0	0.670034	0.63936	0	0.702456	0.68683	0	0.530356	0.10902	0	.	.	5.77	2.76	0.31527	1.958000	0.40027	5.758000	0.49667	0.676000	0.76740	0.978000	0.35038	1.000000	0.68203	0.982000	0.59238	0.2007:0.0:0.7993:0.0	11.276	0.48399	356	0.85138	Cadherin, cytoplasmic domain;Cadherin, cytoplasmic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2031.98	37	chr16	68828263	.	G	A	2031.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=962;ExcessHet=0.0000;FS=2.018;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=-1.450e-01;SOR=0.855	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1575	20	0	1	0
chr16	68828281	68828281	G	C	exonic	CDH1	.	nonsynonymous SNV	CDH1:NM_001317184:exon13:c.G2089C:p.E697Q	Endometrial carcinoma, somatic;Gastric cancer, familial diffuse, with or without cleft lip and/or palate, Autosomal dominant;Ovarian carcinoma, somatic	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	1.0	D	0.000	D	1.000	D	2.63	M	-1.59	D	0.600	D	0.727	D	0.374	4.496	24.1	4.37	1.333	7.712	15.754	0.716	0.089440474657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.113e-06	0.0001	2.729e-06	5.511e-06	5.41e-06	1.48e-06	9.7e-07	1.95e-06	1.28e-06	0	0	0	0	0	0	5.41e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.51248	D	0.062	0.49390	T	1.0	0.90584	D	1.0	0.97372	D	0.000363	0.45194	D	0.000000	0.999999	0.58761	D	2.535	0.73915	M	-1.59	0.82076	D	-2.77	0.58733	D	0.553	0.57860	0.600	0.91895	D	0.727	0.90658	D	10	0.50837284	0.61952	D	0.08944	0.75327	D	0.716	0.89922	0.667	0.80502	0.955453839657	0.95498	0.8589841526515866	0.85861	0.901354855463	0.70653	0.710164666176	0.68617	T	0.596272	0.86994	D	0.110966	0.65452	D	-0.0783812	0.65023	T	0.980278690940645	0.73272	D	0.941806	0.85685	D	0.69648063	0.77865	0.47090107	0.69321	0.69648063	0.77866	0.47090107	0.69321	-9.267	0.72188	D	0.4347497002971249	0.52129	0.957	0.87731	P	.;.;.	.;.;.	5.187613	0.86995	29.1	0.99831881498280306	0.91370	0.95925	0.66748	D	AEFBCI	0.959031	0.97914	D	0.770012994540675	0.84199	8.222184	0.709284939559444	0.83082	7.929737	0.999387407795527	0.39415	0.67177	0.52595	0	0.670034	0.63936	0	0.702456	0.68683	0	0.530356	0.10902	0	.	.	5.35	4.37	0.51830	7.887000	0.85804	11.722000	0.94835	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1371:0.8629:0.0	15.754	0.77777	356	0.85138	Cadherin, cytoplasmic domain;Cadherin, cytoplasmic domain;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1818	186.47	102	chr16	68828281	.	G	C	186.47	.	AC=4;AF=0.182;AN=22;BaseQRankSum=-1.109e+00;DP=2532;ExcessHet=0.6776;FS=194.204;InbreedingCoeff=-0.2767;MLEAC=6;MLEAF=0.273;MQ=60.00;MQRankSum=0.00;QD=0.35;ReadPosRankSum=-3.430e-01;SOR=10.494	GT:AD:DP:GQ:PL	0/1:99,27:126:43:43,0,1846	7	0	4	10
chr16	68927998	68927998	C	G	exonic	TANGO6	.	nonsynonymous SNV	TANGO6:NM_024562:exon13:c.C2558G:p.T853R,	.	.	438	1081	3	0	0	3	0.00138568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.952	D	0.001	D	0.997	D	1.995	M	-0.24	T	-0.535	T	0.144	T	0.331	3.884	19.74	4.41	2.512	0.900	11.035	0.233	.	0.0109	0.00838658	0.0034	0.0359	0.0027	0.0001	0	0.0001	0.0028	0	0.0025744	398	154602	rs61730958	0.0011	0.0011	0.0012	0.0010	0.0378	0.0011	0.0010	0.0361	0.0354	0.0378	0.0018	0	0	0	0.0023	8.01e-05	0.0025	0.0002	0.0094	0.0094	0.0095	0.0091	0.0325	0.0089	0.0088	0.0310	0.0304	0.0325	0	0.0035	0	0	0	0	8.82e-05	0.0071	0	0.002	0.72154	D	0.003	0.76473	D	0.999	0.77913	D	0.952	0.69102	D	0.000551	0.43413	D	0.259480	0.996802	0.43428	D	2.76	0.80626	M	-0.24	0.66834	T	-3.86	0.72471	D	0.656	0.66615	-0.5349	0.67356	T	0.144	0.46587	T	10	0.012568265	0.00270	T	.	.	.	0.233	0.53499	.	.	0.62009270483	0.61701	0.68624563950522	0.68564	0.466506225267	0.46054	0.372905313969	0.21248	T	0.20785	0.56761	T	-0.357897	0.04250	T	-0.261804	0.48644	T	0.0361429466646185	0.03006	T	0.843516	0.52087	T	0.6143235	0.73460	0.6081901	0.77215	0.6143235	0.73461	0.6081901	0.77216	-14.961	0.95760	D	.	.	0.119	0.24566	B	.	.	2.813876	0.37048	20.4	0.99484599387080819	0.67069	0.32816	0.24677	N	AEFBI	0.063186	0.12192	N	0.386529461759474	0.60690	4.260889	0.301172144026919	0.55609	3.72377	0.141455943513219	0.17280	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.37	4.41	0.52588	1.298000	0.33017	2.549000	0.33255	0.581000	0.30040	0.001000	0.13787	0.738000	0.26462	0.973000	0.55318	0.0:0.858:0.0:0.142	11.035	0.47014	304	0.87780	RNA polymerase II assembly factor Rtp1, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	924.98	34	chr16	68927998	.	C	G	924.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.559;DP=816;ExcessHet=0.0000;FS=12.046;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.19;ReadPosRankSum=-1.012e+00;SOR=1.802	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1238	20	0	1	0
chr16	69119687	69119687	-	AGGGCCTGGGCCCAGGCCACTTGGTCTTGGGTTGGGCCC	exonic	DERPC	.	nonframeshift insertion	DERPC:NM_001366603:exon2:c.741_742insGGGCCCAACCCAAGACCAAGTGGCCTGGGCCCAGGCCCT:p.P247_N248insGPNPRPSGLGPGP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs774547051	1.337e-05	1.431e-05	0	2.484e-05	0.0001	5.56e-06	3.57e-06	5.442e-05	3.809e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	507.94	34	chr16	69119687	.	T	TAGGGCCTGGGCCCAGGCCACTTGGTCTTGGGTTGGGCCC	507.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=789;ExcessHet=0.0000;FS=1.170;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.58;ReadPosRankSum=-3.243e+00;SOR=0.895	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1184	20	0	1	0
chr16	69119798	69119798	G	C	exonic	DERPC	.	nonsynonymous SNV	DERPC:NM_001366603:exon2:c.C631G:p.P211A	.	.	426	1078	17	1	0	19	0.00873563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.001	B	0.003	B	0.042	N	1.000	N	.	.	1.92	T	-1.052	T	0.028	T	0.092	0.982	9.008	-0.357	0.248	1.343	2.114	0.028	.	.	0.00419329	0.0115	0.0018	0.0053	0	0.125	0.0056	0.0076	0.0153	0.0015394	238	154602	rs185866245	0.0043	0.0038	0.0035	0.0050	0.0134	0.0042	0.0041	0.0127	0.0124	0.0005	0.0021	0.0028	0	0.0063	0.0043	0.0034	0.0034	0.0134	0.0027	0.0027	0.0025	0.0029	0.0124	0.0025	0.0024	0.0099	0.0090	0.0004	0	0.0038	0.0032	0	0.0041	0.0035	0.0032	0.0019	0.0124	0.0	0.91255	D	0.373	0.16328	T	0.001	0.07471	B	0.003	0.08700	B	0.041520	0.23942	N	0.299706	0.999993	0.58761	D	.	.	.	1.92	0.23082	T	0.14	0.05405	N	0.246	0.27792	-1.0519	0.13872	T	0.028	0.12147	T	9	0.0026232302	0.00040	T	.	.	.	0.028	0.06331	.	.	0.247872288689	0.24386	0.0850487383074622	0.08438	.	.	0.483097851276	0.36483	T	0.015917	0.13255	T	-0.581976	0.00187	T	-0.597068	0.13057	T	0.0214830953862535	0.00852	T	0.445855	0.12478	T	0.050773207	0.09225	0.05342995	0.08997	0.050773207	0.09224	0.05342995	0.08996	-5.831	0.44844	T	.	.	0.079	0.07177	B	.	.	2.220679	0.28336	17.76	0.90590718042576435	0.19844	0.32714	0.24653	N	AEFDBCI	0.080978	0.16379	N	-0.463881499344363	0.23272	1.248528	-0.392717760883038	0.25212	1.385206	0.0372603808181577	0.14287	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.49	-0.357	0.11953	1.121000	0.30897	2.798000	0.34835	0.676000	0.76740	0.985000	0.35982	1.000000	0.68203	0.974000	0.55675	0.1664:0.2872:0.3989:0.1476	2.114	0.03483	202	0.92131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	6341.9	34	chr16	69119798	.	G	C	6341.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.610e-01;DP=981;ExcessHet=0.0082;FS=0.920;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=59.96;MQRankSum=0.00;QD=19.45;ReadPosRankSum=0.900;SOR=0.637	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1184	18	1	2	0
chr16	69331250	69331250	C	T	exonic	COG8	.	nonsynonymous SNV	COG8:NM_001379261:exon5:c.G1708A:p.E570K,	Congenital disorder of glycosylation, type IIh	.	192	1305	18	7	0	32	0.012112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0321486	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs139824417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0056	0.0056	0.0035	0.0077	0.1222	0.0053	0.0051	0.1140	0.1108	0.0005	0	0.0017	0	0.0372	0	0	0.0002	0.0062	0.1222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	219.17	11	chr16	69331250	.	C	T	219.17	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.10;DP=213;ExcessHet=0.1072;FS=3.522;InbreedingCoeff=-0.0525;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=0.00;SOR=0.124	GT:AD:DP:GQ:PL	0/0:10,0:10:27:0,27,405	19	0	2	0
chr16	69693627	69693629	CAG	-	exonic	NFAT5	.	nonframeshift deletion	NFAT5:NM_001367709:exon12:c.3127_3129del:p.Q1059del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0007	0.0020	0.0009	0.0002	0.0009	0.0011	0.0010	0.0007956	123	154602	rs750951612	1.369e-06	0.0003	0	2.752e-06	8.998e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.879e-05	0	8.998e-07	0	0	0	1.97e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2032.94	39	chr16	69693626	.	ACAG	A	2032.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.210;DP=820;ExcessHet=0.0000;FS=2.461;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.31;ReadPosRankSum=0.070;SOR=0.991	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1137	20	0	1	0
chr16	69694161	69694161	G	A	exonic	NFAT5	.	nonsynonymous SNV	NFAT5:NM_001367709:exon12:c.G3661A:p.G1221S	.	.	.	.	.	.	.	.	.	.	.	570449	Immunodeficiency|not_specified	Human_Phenotype_Ontology:HP:0002721,Human_Phenotype_Ontology:HP:0005362,Human_Phenotype_Ontology:HP:0005371,MONDO:MONDO:0021094,MedGen:C0021051,OMIM:PS300755|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.041	B	0.041	B	0.000	N	0.999	D	1.04	L	0.1	T	-0.953	T	0.134	T	0.45	3.287	17.04	2.57	0.729	3.474	10.986	0.135	0.0132821436943	0.0002	.	0.0002	9.829e-05	0	0	0	0.0003	0.0011	6.077e-05	0.0001423	22	154602	rs145862239	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0001	0.0006	0.0004	0	0.0002	0	0	0	0.0012	0.0002	0.0001	6.956e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	0.0001	0	0.0003	0	0	0	0	0.0002	0.0005	0	0.042	0.41637	D	0.081	0.41913	T	0.041	0.21357	B	0.041	0.23986	B	0.000355	0.45440	N	0.227247	0.99916	0.46223	D	2.22	0.62911	M	0.1	0.61559	T	-1.3	0.34596	N	0.389	0.43029	-0.9527	0.40503	T	0.134	0.44681	T	10	0.113069355	0.21230	T	0.013282	0.32560	T	0.135	0.36572	.	.	0.327401308167	0.32341	.	.	.	.	0.511009156704	0.40364	T	0.364677	0.73022	T	-0.22892	0.16792	T	-0.269044	0.47917	T	0.0534365686967481	0.06093	T	0.835416	0.50550	T	0.050404646	0.09101	0.11037396	0.26612	0.050404646	0.09101	0.11037396	0.26611	-2.333	0.04739	T	.	.	0.058	0.01715	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.307632	0.29537	18.15	0.98415946287901535	0.41234	0.94842	0.62518	D	AEFDBI	0.494465	0.53025	N	-0.328030571714092	0.28086	1.546331	-0.169703313724219	0.32657	1.860171	0.988601976694601	0.31570	0.706548	0.73137	0	0.702456	0.74545	0	0.679469	0.61720	0	0.714379	0.83352	0	.	.	5.6	2.57	0.29928	3.561000	0.53515	5.181000	0.47864	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.2042:0.0:0.7958:0.0	10.986	0.46735	80	0.96670	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1116.98	39	chr16	69694161	.	G	A	1116.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=806;ExcessHet=0.0000;FS=0.753;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.74;ReadPosRankSum=-3.172e+00;SOR=0.611	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1137	20	0	1	0
chr16	69742393	69742393	C	T	exonic	NOB1	.	nonsynonymous SNV	NOB1:NM_014062:exon9:c.G1178A:p.G393E,	.	.	429	1079	12	2	0	16	0.00735971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.94	D	0.299	N	1.000	D	0.895	L	1.5	T	-1.005	T	0.112	T	0.914	2.916	15.72	4.39	2.417	7.240	17.517	0.341	0.0275078611136	0.0025	0.00179712	0.0023	0.0011	0.0010	0	0	0.0026	0.0011	0.0053	0.0023286	360	154602	rs61731358	0.0035	0.0035	0.0034	0.0035	0.0060	0.0034	0.0033	0.0055	0.0054	0.0004	0.0008	0.0002	0	0.0004	0.0010	0.0039	0.0024	0.0060	0.0022	0.0022	0.0021	0.0023	0.0056	0.0020	0.0019	0.0039	0.0034	0.0009	0	0.0019	0.0003	0.0002	0.0002	0	0.0035	0.0014	0.0056	0.75	0.03587	T	0.461	0.12562	T	0.999	0.77913	D	0.94	0.67560	D	0.299282	0.03944	N	3.054110	1	0.81001	D	2.985	0.85602	M	1.5	0.31205	T	-3.09	0.63438	D	0.803	0.79889	-1.0048	0.28517	T	0.112	0.40075	T	9	0.0281896	0.00954	T	0.027508	0.50311	D	0.341	0.66297	.	.	0.71338130811	0.71087	0.641847548974825	0.64119	0.673999816247	0.59622	0.623126745224	0.56170	T	0.034415	0.23314	T	-0.0865381	0.38645	T	0.104975	0.77237	D	0.047995444148706	0.05142	T	0.922708	0.71908	D	0.38964838	0.60007	0.28401715	0.54397	0.38964838	0.60007	0.28401715	0.54396	-9.266	0.69394	D	.	.	0.462	0.62791	A	.	.	4.926500	0.81191	27.5	0.99425408712221763	0.63984	0.98485	0.83276	D	AEFDGBCI	0.869630	0.79025	D	0.556016650460909	0.70448	5.503138	0.560220001257497	0.72110	5.758667	1.0	0.98316	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	4.39	4.39	0.52211	7.283000	0.78001	7.612000	0.61951	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:1.0:0.0:0.0	17.517	0.87673	74	0.96871	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1633.98	33	chr16	69742393	.	C	T	1633.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=819;ExcessHet=0.0000;FS=1.553;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.95;MQRankSum=1.32;QD=14.33;ReadPosRankSum=-7.820e-01;SOR=0.541	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,111,1405	20	0	1	0
chr16	69840261	69840261	A	C	exonic	WWP2	.	nonsynonymous SNV	WWP2:NM_001270453:exon2:c.A128C:p.D43A	.	.	.	.	.	.	.	.	.	0.4870	0.522	2343738	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.009	B	0.011	B	0.002	N	1.000	D	1.06	L	1.6	T	-1.089	T	0.057	T	0.676	3.065	16.23	5.33	2.028	6.388	13.087	0.136	0.0167343422124	.	.	2.474e-05	0	0	0	0	4.504e-05	0	0	1.94e-05	3	154602	rs757130733	5.048e-05	4.857e-05	5.234e-05	4.861e-05	6.499e-05	4.081e-05	3.747e-05	5.238e-05	4.804e-05	0	0	0	0	0	0	6.499e-05	1.776e-05	0	7.284e-05	7.264e-05	6.474e-05	8.133e-05	0.0001	4.001e-05	3.149e-05	5.863e-05	4.254e-05	4.854e-05	0	6.601e-05	0	0	0	0	0.0001	0	0	0.126	0.54683	T	0.435	0.61642	T	0.009	0.15093	B	0.011	0.15521	B	0.002080	0.37317	N	0.224693	1	0.81001	D	0.72	0.18721	N	1.6	0.28604	T	-1.13	0.38151	N	0.383	0.49055	-1.0889	0.05718	T	0.057	0.24092	T	9	0.19513091	0.35353	T	0.016734	0.38123	T	0.136	0.36778	0.239	0.17065	0.216943180021	0.21308	0.35535804648291497	0.35449	0.446682794195	0.44537	0.470044761896	0.34686	T	0.038955	0.25023	T	-0.13236	0.31114	T	-0.230259	0.51746	T	0.259204357862473	0.23280	T	0.59644	0.37371	T	0.09914626	0.23395	0.10148579	0.24298	0.09914626	0.23395	0.10148579	0.24297	-2.633	0.10775	T	.	.	0.081	0.22933	B	.;.;.	.;.;.	4.394659	0.67856	25.2	0.98088920568940319	0.38173	0.96386	0.68885	D	ALL	0.818571	0.73979	D	0.0346025537558852	0.43436	2.636469	0.218788473203955	0.50888	3.276456	0.999999999990096	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.33	5.33	0.75683	6.379000	0.73086	11.243000	0.90488	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.346000	0.25568	1.0:0.0:0.0:0.0	13.087	0.58562	187	0.92701	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	964.98	48	chr16	69840261	.	A	C	964.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=983;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.22;ReadPosRankSum=0.074;SOR=0.791	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	20	0	1	0
chr16	70120596	70120596	G	T	exonic	PDPR	.	nonsynonymous SNV	PDPR:NM_001322117:exon3:c.G104T:p.R35L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.009	B	0.015	B	0.941	N	1.000	N	0	N	-0.47	T	-1.023	T	0.128	T	0.142	-0.033	3.846	-1.64	-0.158	0.557	5.189	0.042	0.0152657655964	.	.	6.629e-05	0	0	0	0.0006	5.999e-05	0	0	3.84e-05	1	26028	rs745759217	4.955e-05	0.0018	5.754e-05	4.149e-05	6.341e-05	4.017e-05	3.692e-05	5.111e-05	4.687e-05	0	0	0	0	0	0	6.341e-05	3.328e-05	0	1.978e-05	0.0009	2.579e-05	1.349e-05	1.477e-05	5.26e-06	2.46e-06	.	.	0	0	0	0	0	0.0002	0	1.477e-05	0	0	0.416	0.09958	T	0.578	0.08565	T	0.009	0.15093	B	0.015	0.17295	B	0.940547	0.08357	N	0.972503	1	0.18198	N	0	0.06538	N	-0.47	0.70133	T	-0.17	0.09627	N	0.125	0.11769	-1.0234	0.22606	T	0.128	0.43585	T	10	0.04269439	0.03043	T	0.015266	0.35904	T	0.042	0.11227	.	.	0.218112801441	0.21410	0.258975416307323	0.25811	0.555731023393	0.52264	0.31756272912	0.13051	T	0.005222	0.04667	T	-0.182616	0.23347	T	-0.500092	0.22338	T	0.0145011785517235	0.00295	T	0.593441	0.21910	T	0.03477801	0.03967	0.029928848	0.01387	0.03477801	0.03967	0.029928848	0.01387	-3.234	0.12901	T	.	.	0.105	0.19235	B	.;.	.;.	0.164631	0.05545	2.005	0.15222067162141983	0.00364	0.05037	0.10822	N	AEFDBI	0.087500	0.17741	N	-1.3825091507911	0.02802	0.1242519	-1.39904425459602	0.03262	0.1518285	5.97899955856435E-4	0.07414	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.567339	0.31927	0	.	.	4.13	-1.64	0.07874	0.224000	0.17520	1.990000	0.30074	-0.303000	0.06174	0.000000	0.06391	0.375000	0.24588	0.003000	0.05239	0.5506:0.2803:0.1691:0.0	5.189	0.14526	230	0.91032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	38.12	39	chr16	70120596	.	G	T	38.12	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.75;DP=1507;ExcessHet=0.1072;FS=6.172;InbreedingCoeff=-0.0498;MLEAC=2;MLEAF=0.048;MQ=56.39;MQRankSum=-8.025e+00;QD=0.13;ReadPosRankSum=-1.056e+00;SOR=1.294	GT:AD:DP:GQ:PL	0/0:203,0:203:61:0,61,5090	19	0	2	0
chr16	70128846	70128846	C	T	exonic	PDPR	.	nonsynonymous SNV	PDPR:NM_001322118:exon3:c.C124T:p.R42C	.	.	434	1078	10	0	0	10	0.00461681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	3.455	M	-1.71	D	0.772	D	0.773	D	0.788	3.705	18.82	4.37	1.971	5.371	14.045	0.897	0.118915447535	0.0030	.	0.0052	0.0012	0.0022	0	0.0039	0.0082	0	0.0007	0.0003074	8	26028	rs199978223	0.0029	0.0088	0.0029	0.0029	0.0035	0.0028	0.0028	0.0034	0.0034	0.0006	0.0010	0.0012	5.039e-05	0.0015	0.0026	0.0035	0.0025	0.0003	0.0025	0.0055	0.0028	0.0023	0.0040	0.0023	0.0022	0.0036	0.0034	0.0009	0	0.0021	0.0020	0	0.0024	0.0034	0.0040	0.0038	0.0008	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.425	0.91960	M	-1.71	0.83157	D	-6.77	0.92782	D	0.907	0.94904	0.772	0.94060	D	0.773	0.92279	D	10	0.13158509	0.25043	T	0.118915	0.79908	D	0.897	0.97097	.	.	0.953785314089	0.95329	0.881366352675146	0.88104	1.52708143552	0.87520	0.732797145844	0.71915	T	0.449152	0.84137	T	0.292995	0.82400	D	0.183091	0.82174	D	0.10227920114994	0.12607	T	0.957504	0.83996	D	0.94084775	0.95333	0.7894737	0.87613	0.94084775	0.95334	0.7894737	0.87614	-9.945	0.73582	D	.	.	0.846	0.80063	P	.;.;.	.;.;.	5.834438	0.93752	33	0.99934935317314788	0.99579	0.95877	0.66538	D	AEFGBI	0.656569	0.62851	D	0.754384090607961	0.83190	7.952887	0.638423896273874	0.77752	6.740092	0.241499713014263	0.18576	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.37	4.37	0.51830	5.314000	0.65589	7.544000	0.60141	0.514000	0.23422	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	14.045	0.64223	209	0.91859	FAD dependent oxidoreductase;FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	2048.68	39	chr16	70128846	.	C	T	2048.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.125;DP=1349;ExcessHet=0.3300;FS=0.679;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=35.90;MQRankSum=0.886;QD=3.16;ReadPosRankSum=-2.550e-01;SOR=0.747	GT:AD:DP:GQ:PL	0/1:188,36:224:99:493,0,4922	18	0	3	0
chr16	70156611	70156611	G	A	exonic	PDPR	.	nonsynonymous SNV	PDPR:NM_001322118:exon17:c.G2072A:p.R691Q	.	.	406	1110	4	2	0	8	0.00359066	.	.	2817619	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.967	D	0.000	D	1.000	D	2.76	M	-1.08	T	0.300	D	0.598	D	0.578	5.908	36	6.03	2.868	9.793	19.563	0.515	0.140670382393	0.0033	0.00239617	0.0044	0.0011	0.0019	0	0.0026	0.0071	0.0033	0.0005	0.0039715	614	154602	rs117263218	0.0040	0.0051	0.0041	0.0040	0.0049	0.0040	0.0039	0.0048	0.0047	0.0007	0.0018	0.0001	0	0.0024	0.0002	0.0049	0.0029	0.0007	0.0028	0.0035	0.0030	0.0025	0.0048	0.0026	0.0025	0.0043	0.0042	0.0011	0	0.0011	0	0	0.0028	0	0.0048	0.0028	0.0002	0.007	0.68238	D	0.012	0.92824	D	0.998	0.73220	D	0.967	0.71530	D	0.000012	0.62929	D	0.115046	1	0.81001	D	2.725	0.79712	M	-1.08	0.77078	T	-2.93	0.65283	D	0.471	0.68863	0.300	0.87567	D	0.598	0.85683	D	10	0.012163997	0.00268	T	0.14067	0.82311	D	0.515	0.79279	.	.	0.94171101366	0.94110	0.7965086461577588	0.79603	0.3324837602	0.35292	0.48716583848	0.37046	T	0.344442	0.89941	T	-0.197281	0.21198	T	-0.0524306	0.66856	D	0.0373471641447648	0.03216	T	0.974203	0.90777	D	0.24801373	0.47784	0.23960651	0.49313	0.26413882	0.49480	0.22328494	0.47200	-8.666	0.65523	D	.	.	0.301	0.57504	B	.;.;.;.;.;.	.;.;.;.;.;.	5.537937	0.91934	32	0.99949798929909006	0.99938	0.97210	0.73340	D	AEFDGBCI	0.910230	0.86788	D	0.984106185791155	0.95236	13.43068	0.966025756131798	0.97855	16.90052	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	9.930000	0.98820	9.746000	0.81453	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	19.563	0.95376	172	0.93355	Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1531.98	43	chr16	70156611	.	G	A	1531.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.874;DP=1519;ExcessHet=0.0000;FS=1.486;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.14;ReadPosRankSum=0.566;SOR=0.810	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1295	20	0	1	0
chr16	70156667	70156667	C	T	exonic	PDPR	.	nonsynonymous SNV	PDPR:NM_001322118:exon17:c.C2128T:p.R710C	.	.	411	1064	47	0	0	47	0.0216092	.	.	3214454	PDPR-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.996	D	0.000	D	1.000	D	0.49	N	-1.17	T	-0.206	T	0.364	T	0.958	1.928	12.41	6.03	2.868	4.681	14.406	0.593	.	0.0056	0.00419329	0.0061	0.0051	0.0043	0.0002	0.0018	0.0076	0.0156	0.0065	0.0056209	869	154602	rs141395281	0.0049	0.0062	0.0048	0.0050	0.0207	0.0048	0.0048	0.0177	0.0165	0.0054	0.0050	0.0219	7.557e-05	0.0009	0.0207	0.0046	0.0071	0.0057	0.0054	0.0063	0.0056	0.0052	0.0062	0.0051	0.0050	0.0051	0.0049	0.0048	0	0.0062	0.0196	0.0006	0.0006	0.0377	0.0056	0.0171	0.0058	0.0	0.91255	D	0.0	0.92824	D	0.344	0.33532	B	0.108	0.31289	B	0.000002	0.62929	D	0.060606	1	0.81001	D	1.425	0.35738	L	-1.17	0.78199	T	-4.37	0.81835	D	0.76	0.91162	-0.2061	0.77514	T	0.364	0.72506	T	10	0.008982539	0.00203	T	.	.	.	0.593	0.83802	.	.	0.843224510663	0.84172	0.8173182629007808	0.81688	0.371021257662	0.38606	0.767588675022	0.77064	T	0.34377	0.86264	T	0.037008	0.56652	T	0.282856	0.87274	D	0.0339612259325702	0.02631	T	0.961904	0.90356	D	0.41766918	0.61936	0.32478216	0.58399	0.43338367	0.62974	0.32478216	0.58399	-7.755	0.59389	D	.	.	0.195	0.44358	B	.;.;.;.;.	.;.;.;.;.	4.635750	0.73751	26.0	0.98498878817887714	0.42192	0.95003	0.63085	D	AEFDGBCI	0.788991	0.71831	D	0.280073968342618	0.55139	3.678235	0.379189621332959	0.60284	4.214227	0.999999999993714	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	4.756000	0.61902	7.546000	0.60178	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.638000	0.32368	0.1473:0.8526:0.0:0.0	14.406	0.66651	172	0.93355	Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2072.98	43	chr16	70156667	.	C	T	2072.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.148;DP=1367;ExcessHet=0.0000;FS=0.598;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.06;ReadPosRankSum=1.44;SOR=0.707	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1295	20	0	1	0
chr16	70156668	70156668	G	A	exonic	PDPR	.	nonsynonymous SNV	PDPR:NM_001322118:exon17:c.G2129A:p.R710H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.991	D	0.000	D	1.000	D	1.68	L	-1.12	T	0.170	D	0.596	D	0.902	4.148	21.4	6.03	2.868	7.971	19.563	0.755	0.104283487791	7.9e-05	0.000798722	0.0004	0.0002	8.639e-05	0	0	2.997e-05	0	0.0029	0.0003752	58	154602	rs369206950	0.0002	0.0002	0.0001	0.0003	0.0029	0.0002	0.0002	0.0026	0.0025	0.0003	2.236e-05	0	5.038e-05	0	0	2.518e-05	0.0003	0.0029	0.0002	0.0002	0.0001	0.0003	0.0041	0.0002	0.0001	0.0027	0.0023	0.0002	0	0	0	0	0	0	4.409e-05	0	0.0041	0.002	0.72154	D	0.004	0.76473	D	1.0	0.90584	D	0.978	0.74104	D	0.000002	0.62929	D	0.060606	1	0.81001	D	1.7	0.43825	L	-1.12	0.77593	T	-2.84	0.63782	D	0.627	0.81658	0.170	0.85404	D	0.596	0.85574	D	10	0.035084307	0.01742	T	0.104283	0.77878	D	0.755	0.91626	.	.	0.922887805294	0.92210	0.764059668460142	0.76353	0.350766976389	0.36924	0.722492992878	0.70410	T	0.317875	0.86014	T	0.046698	0.57918	T	0.290311	0.87693	D	0.115198148770378	0.13954	T	0.960604	0.90093	D	0.29823765	0.52746	0.25352502	0.51001	0.30209807	0.53092	0.28794125	0.54807	-9.043	0.67974	D	.	.	0.184	0.40984	B	.;.;.;.;.	.;.;.;.;.	4.959381	0.81993	27.7	0.99916182528960207	0.98449	0.97384	0.74407	D	AEFDGBCI	0.909881	0.86709	D	0.740566717580453	0.82290	7.726091	0.729994899732807	0.84655	8.353131	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	8.097000	0.89373	8.447000	0.77209	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.661000	0.32996	0.0:0.0:1.0:0.0	19.563	0.95376	172	0.93355	Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1726.98	43	chr16	70156668	.	G	A	1726.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.650;DP=1134;ExcessHet=0.0000;FS=0.458;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.12;ReadPosRankSum=1.59;SOR=0.655	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1295	20	0	1	0
chr16	70174307	70174307	G	A	exonic	CLEC18C	.	nonsynonymous SNV	CLEC18C:NM_173619:exon2:c.G29A:p.R10Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.001	B	0.0	B	0.014	N	1.000	N	0.345	N	3.44	T	-0.973	T	0.028	T	0.461	1.290	10.22	-2.53	-0.390	-3.020	9.347	0.090	.	.	0.00199681	0.0014	0	0	0.0001	0	0	0.0033	0.0084	0.0003842	10	26028	rs539671929	0.0004	0.0004	0.0002	0.0006	0.0060	0.0004	0.0004	0.0056	0.0054	0	0	0	5.344e-05	0	0	9.378e-06	0.0001	0.0060	0.0001	0.0001	6.263e-05	0.0002	0.0035	7.457e-05	5.949e-05	0.0021	0.0017	0	0	0	0	0	0	0	0	0	0.0035	0.232	0.23450	T	0.538	0.14818	T	0.001	0.07471	B	0.0	0.01387	B	0.014018	0.01379	N	2.659970	1	0.08975	N	0.345	0.11182	N	1.58	0.29085	T	-0.18	0.12099	N	0.043	0.02272	-0.9733	0.36496	T	0.028	0.12103	T	10	0.00616917	0.00139	T	.	.	.	0.090	0.26093	0.372	0.38340	0.362933182269	0.35899	0.22662006787302214	0.22577	.	.	.	.	.	0.008592	0.07877	T	-0.429899	0.01484	T	-0.570583	0.15397	T	0.0156079488632265	0.00356	T	0.373163	0.08910	T	0.023526765	0.01100	0.03238984	0.01968	0.023526765	0.01099	0.03238984	0.01968	-4.676	0.33112	T	.	.	0.086	0.10787	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-1.442465	0.00331	0.006	0.76579718263254348	0.11525	0.01104	0.04047	N	AEFI	0.050118	0.08728	N	-1.45335594802371	0.02190	0.09644861	-1.50212151430407	0.02328	0.1068991	2.59349930545905E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.28	-2.53	0.05959	-3.454000	0.00518	-4.134000	0.02323	-2.979000	0.00146	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6861:0.0:0.3139:0.0	9.347	0.37278	163	0.93656	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02632	77.16	5	chr16	70174307	.	G	A	77.16	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.263;DP=164;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0501;MLEAC=1;MLEAF=0.026;MQ=40.48;MQRankSum=-1.976e+00;QD=5.94;ReadPosRankSum=-5.640e-01;SOR=1.022	GT:AD:DP:GQ:PL	0/0:11,0:11:33:0,33,305	18	0	1	2
chr16	70254652	70254652	T	A	exonic	AARS1	.	nonsynonymous SNV	AARS1:NM_001605:exon17:c.A2369T:p.D790V,	.	.	0	1521	1	0	0	1	0.000328623	.	.	1674038	Charcot-Marie-Tooth_disease_type_2	MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.16	T	0.01	B	0.028	B	0.000	D	1.000	D	1.7	L	-0.11	T	-0.810	T	0.211	T	0.85	3.246	16.88	5.43	2.059	7.631	13.433	0.313	0.0617684693905	.	0.00139776	0.0008	0	0	0	0	0	0.0011	0.0057	0.0006598	102	154602	rs555357914	0.0003	0.0003	0.0001	0.0004	0.0048	0.0003	0.0003	0.0044	0.0042	0	0	0	0	0	0	8.993e-07	8.279e-05	0.0048	0.0001	0.0001	7.713e-05	0.0001	0.0035	7.089e-05	5.746e-05	0.0022	0.0018	0	0	0	0	0	0	0	0	0	0.0035	0.134	0.26300	T	0.162	0.31225	T	0.003	0.11197	B	0.013	0.16460	B	0.000012	0.62929	D	0.146521	1	0.81001	D	2.4	0.69460	M	-0.11	0.64445	T	-1.35	0.33598	N	0.844	0.83987	-0.8103	0.54532	T	0.211	0.57161	T	10	0.012775153	0.00273	T	0.061768	0.68437	D	0.313	0.63482	0.384	0.40298	0.850749273957	0.84931	0.7860079156456936	0.78552	0.431329202958	0.43345	0.531196475029	0.43203	T	0.300432	0.67292	T	0.245617	0.78190	D	0.115036	0.77906	D	0.107449922415523	0.13157	T	0.955404	0.83015	D	0.45055103	0.64076	0.20474134	0.44611	0.45055103	0.64076	0.20474134	0.44610	-5.238	0.39326	T	0.17763471070921305	0.22729	0.093	0.13923	B	.	.	3.643900	0.51676	23.1	0.9857241151376297	0.43128	0.98165	0.80163	D	AEFDBHCI	0.936190	0.93215	D	0.0834075666545043	0.45690	2.821291	0.254064204124488	0.52881	3.460019	0.999999998451239	0.74766	0.645754	0.44609	0	0.697927	0.68747	0	0.697927	0.64325	0	0.723	0.93126	0	.	.	5.43	5.43	0.79006	7.632000	0.82419	6.090000	0.53436	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	13.433	0.60514	152	0.94023	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1102.98	35	chr16	70254652	.	T	A	1102.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.438e+00;DP=797;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.13;ReadPosRankSum=-7.210e-01;SOR=0.642	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1354	20	0	1	0
chr16	70324671	70324671	C	A	exonic	DDX19B	.	nonsynonymous SNV	DDX19B:NM_001257175:exon3:c.C23A:p.A8E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.0	B	0.005	B	0.248	N	1.000	N	-0.44	N	2.54	T	-0.938	T	0.001	T	0.315	0.701	7.740	1.85	0.756	0.757	8.277	0.026	.	0.0106	0.0131789	0.0029	0.0314	0.0005	0	0	0.0003	0.0033	0.0001	0.0029754	460	154602	rs75820607	0.0011	0.0011	0.0012	0.0010	0.0350	0.0011	0.0011	0.0334	0.0327	0.0350	0.0018	0	0	1.873e-05	0.0038	0.0002	0.0022	0.0001	0.0099	0.0100	0.0100	0.0099	0.0337	0.0095	0.0094	0.0322	0.0316	0.0337	0	0.0048	0	0	0	0.0034	0.0004	0.0071	0.0002	0.518	0.15354	T	0.513	0.18125	T	0.0	0.02946	B	0.001	0.06944	B	0.247817	0.15574	N	0.676493	0.999999	0.08975	N	-0.205	0.04094	N	2.54	0.13916	T	-0.5	0.15782	N	0.203	0.22742	-0.9380	0.42932	T	0.001	0.00318	T	10	0.0018434227	0.00025	T	.	.	.	0.026	0.05648	.	.	0.132336055621	0.12781	0.32519731895585924	0.32432	0.828852337507	0.67540	0.335441112518	0.15754	T	0.003	0.28560	T	-0.568411	0.00226	T	-0.565574	0.15858	T	0.00529985601761616	0.00057	T	0.882712	0.70605	D	0.05081075	0.09238	0.079021215	0.17753	0.05081075	0.09238	0.079021215	0.17753	-6.654	0.60687	T	.	.	0.111	0.23290	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.577182	0.20184	14.63	0.87968319624182045	0.17617	0.10844	0.16232	N	AEFBI	0.155054	0.28019	N	-0.878736647308641	0.11349	0.5472366	-0.723612855613738	0.16373	0.8658471	1.32794857613751E-5	0.02871	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.83	1.85	0.24418	0.771000	0.26294	2.189000	0.31192	-0.182000	0.10109	0.012000	0.18695	0.972000	0.29809	0.958000	0.51230	0.0:0.7286:0.0:0.2714	8.277	0.31039	103	0.95740	DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;.;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;.;.;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2113.98	34	chr16	70324671	.	C	A	2113.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.775e+00;DP=905;ExcessHet=0.0000;FS=1.941;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=-1.023e+00;SOR=0.889	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1287	20	0	1	0
chr16	70365116	70365116	G	A	exonic	DDX19A	.	nonsynonymous SNV	DDX19A:NM_001320522:exon6:c.G496A:p.V166I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.015	B	0.055	B	0.000	D	1.000	D	-0.495	N	2.64	T	-1.015	T	0.016	T	0.287	0.337	5.826	4.45	1.251	6.027	13.273	0.071	0.00382499385295	.	0.000599042	0.0002	0	8.642e-05	0.0024	0	1.5e-05	0	0	0.0001682	26	154602	rs201168154	4.793e-05	4.857e-05	4.361e-05	5.23e-05	0.0011	3.864e-05	3.543e-05	0.0009	0.0008	8.974e-05	4.472e-05	0	0.0011	0	0	1.08e-05	0.0001	0	9.85e-05	9.844e-05	0.0001	9.401e-05	0.0021	6.003e-05	4.877e-05	0.0012	0.0009	7.218e-05	0	0	0	0.0021	0	0	1.47e-05	0	0	0.323	0.13436	T	0.604	0.08991	T	0.006	0.13644	B	0.043	0.24256	B	0.000001	0.84330	D	0.054132	0.99929	0.47544	D	-0.34	0.03507	N	3.59	0.12780	T	-0.43	0.14782	N	0.279	0.31925	-1.0153	0.25240	T	0.016	0.06425	T	10	0.01244539	0.00267	T	0.003825	0.08930	T	0.071	0.20720	.	.	0.248133497653	0.24425	0.1919593243302533	0.19113	0.470572567331	0.46329	.	.	.	0.062675	0.31979	T	-0.518526	0.00449	T	-0.522218	0.20070	T	0.038872692676206	0.03488	T	0.928607	0.74652	D	0.07857522	0.17903	0.05930696	0.11107	0.07857522	0.17902	0.05930696	0.11107	-8.59	0.65023	D	.	.	0.084	0.34645	B	.;.;.	.;.;.	2.552448	0.33039	19.22	0.8030773860685223	0.13141	0.90054	0.50936	D	AEFBCI	0.561508	0.56947	D	-0.418157350857362	0.24833	1.343673	-0.189017315880071	0.31938	1.812259	0.0146824286066149	0.12626	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.42	4.45	0.53365	6.103000	0.71146	4.923000	0.46060	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.897000	0.43391	0.0:0.0:0.8402:0.1598	13.273	0.59607	101	0.95833	.;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1699.98	34	chr16	70365116	.	G	A	1699.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.932;DP=830;ExcessHet=0.0000;FS=1.419;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=-4.710e-01;SOR=0.844	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr16	70472982	70472982	G	C	splicing	FCSK	NM_145059:exon15:c.1407-1G>C	.	.	.	YES	418	1103	1	0	0	1	0.000453104	1.0000	0.954	1699639	Congenital_disorder_of_glycosylation_with_defective_fucosylation_2|not_provided|not_specified	MONDO:MONDO:0020777,MedGen:C5193028,OMIM:618324|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.964	15.88	4.6	1.330	5.302	13.804	.	.	0.0002	.	0.0003	0	0.0004	0	0	0.0005	0	0	0.000194	30	154602	rs201291016	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0002	0.0002	0	0.0002	0	0	0	0.0005	0.0002	0.0003	2.368e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	4.826e-05	0.0055	0.0001	0	0	0	0.0032	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0139866	0.53569	T	0.0984703	0.76806	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.232752	0.87839	29.4	0.99219220604533487	0.55839	0.98040	0.79094	D	AEFDBI	.	.	.	0.936541139725994	0.93431	12.03506	0.746592066932378	0.85902	8.721152	0.999996942596924	0.74766	0.106106	0.02776	0	0.090008	0.02477	0	0.099915	0.03048	0	0.109871	0.03346	0	0.877654	0.54502	5.57	4.6	0.56512	3.440000	0.52649	11.792000	0.96402	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.675000	0.33396	0.0:0.0:0.8465:0.1535	13.804	0.62711	108	0.95573	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	715.98	33	chr16	70472982	.	G	C	715.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.80;DP=767;ExcessHet=0.0000;FS=0.995;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.79;ReadPosRankSum=-5.660e-01;SOR=0.846	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	20	0	1	0
chr16	70475698	70475698	G	A	exonic	FCSK	.	nonsynonymous SNV	FCSK:NM_145059:exon20:c.G2572A:p.A858T,	.	.	410	1108	4	0	0	4	0.0018018	.	.	1674297	FCSK-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.43	T	0.743	P	0.157	B	0.000	D	1.000	D	0.37	N	-1.97	D	-0.079	T	0.499	T	0.243	2.474	14.23	5.83	2.764	4.024	13.538	0.397	0.050452640604	0.0014	0.000599042	0.0016	0.0002	0.0018	0.0002	0.0028	0.0022	0.0049	0.0002	0.0012742	197	154602	rs17884050	0.0013	0.0013	0.0013	0.0013	0.0023	0.0013	0.0012	0.0014	0.0014	0.0003	0.0014	0.0005	0.0002	0.0015	0.0023	0.0015	0.0013	9.411e-05	0.0011	0.0011	0.0010	0.0012	0.0015	0.0010	0.0009	0.0013	0.0012	0.0002	0	0.0014	0.0006	0.0002	0.0023	0.0068	0.0015	0.0019	0.0002	0.695	0.04239	T	1.0	0.06970	T	0.743	0.43037	P	0.157	0.34536	B	0.000001	0.84330	D	0.098157	0.692519	0.33341	D	0.375	0.12094	N	-1.97	0.91589	D	-0.63	0.18459	N	0.16	0.23125	-0.0789	0.80578	T	0.499	0.81043	T	10	0.017180175	0.00365	T	0.050453	0.64249	D	0.397	0.71163	.	.	0.832011388605	0.83041	0.13969291915166132	0.13892	0.0851734426046	0.09628	0.45239084959	0.32270	T	0.188495	0.59934	T	-0.320815	0.06832	T	-0.246835	0.50129	T	0.0119136490788194	0.00186	T	0.751925	0.37414	T	0.18287468	0.39527	0.17957802	0.40701	0.15523157	0.35094	0.17485188	0.39910	-8.243	0.62714	D	.	.	0.108	0.21011	B	.;.;.	.;.;.	2.272336	0.29044	18.00	0.90695598879953598	0.19946	0.86987	0.46395	D	AEFDGBI	0.157940	0.28352	N	-0.0255330252833098	0.40703	2.421682	0.112326231333735	0.45176	2.785618	0.999999965742761	0.74766	0.489673	0.17934	0	0.71359	0.82159	0	0.641878	0.46077	1	0.491896	0.07777	0	.	.	5.83	5.83	0.93059	4.091000	0.57425	6.612000	0.56091	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.265000	0.23644	0.0:0.0:0.7278:0.2722	13.538	0.61119	108	0.95573	GHMP kinase N-terminal domain;GHMP kinase N-terminal domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1105.98	33	chr16	70475698	.	G	A	1105.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=773;ExcessHet=0.0000;FS=1.921;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.15;ReadPosRankSum=-5.730e-01;SOR=0.954	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1219	20	0	1	0
chr16	70664970	70664970	C	T	exonic	MTSS2	.	nonsynonymous SNV	MTSS2:NM_138383:exon13:c.G1255A:p.G419R,	.	.	.	.	.	.	.	.	.	.	.	3378992	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.43	T	0.801	P	0.097	B	0.035	N	0.957	D	1.39	L	1.53	T	-1.069	T	0.047	T	0.367	1.996	12.63	4.87	2.233	1.107	11.200	0.093	0.0451684137376	7.7e-05	.	0.0002	0	0	0.0004	0	0.0003	0	0.0001	9.7e-05	15	154602	rs373050271	0.0001	0.0001	0.0001	0.0001	0.0002	9.492e-05	8.944e-05	0.0001	8.681e-05	0.0002	9.875e-05	0	0.0002	5.2e-05	0	0.0001	0.0001	9.674e-05	7.223e-05	7.218e-05	8.995e-05	5.372e-05	9.626e-05	3.969e-05	3.126e-05	3.763e-05	2.576e-05	9.626e-05	0	6.532e-05	0	0	0	0	8.822e-05	0	0	0.005	0.63226	D	0.028	0.54934	D	0.801	0.45051	P	0.097	0.30390	B	0.034744	0.24730	N	0.440033	0.956947	0.37999	D	1.61	0.41143	L	1.53	0.30401	T	-2.59	0.55821	D	0.421	0.51940	-1.0690	0.09634	T	0.047	0.20116	T	10	0.1251052	0.23770	T	0.045168	0.61848	D	0.093	0.26882	0.231	0.15855	0.082315109003	0.07666	0.21585719194891342	0.21501	0.0639425796524	0.07127	0.635812878609	0.57970	T	0.053922	0.29580	T	-0.335989	0.05670	T	-0.440967	0.28699	T	0.0320288858973844	0.02311	T	0.89491	0.63503	D	0.11053359	0.26126	0.15147582	0.35681	0.11053359	0.26126	0.15147582	0.35680	-4.27	0.27754	T	.	.	0.149	0.33016	B	.;.	.;.	2.871397	0.37970	20.6	0.99490233853810195	0.67403	0.51722	0.28962	D	AEFDBHCI	0.185470	0.31279	N	-0.251755688111535	0.31033	1.736165	-0.239095445007245	0.30149	1.695046	0.999581602290813	0.40607	0.706548	0.73137	0	0.588015	0.36545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.87	4.87	0.62877	0.940000	0.28589	2.541000	0.33216	0.549000	0.26987	0.000000	0.06391	0.074000	0.22270	0.171000	0.21011	0.0:0.9132:0.0:0.0868	11.200	0.47964	291	0.88420	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1014.98	35	chr16	70664970	.	C	T	1014.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.822;DP=814;ExcessHet=0.0000;FS=1.751;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=-1.361e+00;SOR=0.954	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1269	20	0	1	0
chr16	70809809	70809809	G	A	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon85:c.C14857T:p.R4953W,	Ciliary dyskinesia, primary, 5, Autosomal recessive	.	1	1484	35	2	0	39	0.0129697	.	.	439047	Primary_ciliary_dyskinesia_5|not_provided	MONDO:MONDO:0012088,MedGen:C1837615,OMIM:608647,Orphanet:244|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.975	D	0.010	U	1.000	D	2.48	M	5.48	T	-1.142	T	0.017	T	0.707	4.950	28.8	5.91	2.793	7.360	19.894	0.314	.	0.0024	0.00559105	0.0047	0.0013	0.0020	0.0050	0.0005	0.0037	0.0011	0.0147	0.0044113	682	154602	rs79607350	0.0041	0.0041	0.0037	0.0045	0.0153	0.0040	0.0040	0.0146	0.0144	0.0007	0.0019	0.0023	0.0027	0.0005	0.0087	0.0036	0.0049	0.0153	0.0027	0.0027	0.0025	0.0028	0.0166	0.0024	0.0024	0.0137	0.0126	0.0007	0	0.0024	0.0017	0.0050	0.0006	0.0068	0.0032	0.0009	0.0166	0.001	0.78490	D	.	.	.	.	.	.	.	.	.	0.010398	0.29945	U	0.000000	0.999987	0.54805	D	2.985	0.85602	M	5.48	0.00939	T	-6.38	0.91100	D	0.682	0.68863	-1.1424	0.01271	T	0.017	0.07140	T	10	0.009678125	0.00218	T	.	.	.	0.314	0.63588	.	.	0.376921832658	0.37306	0.35705002463224933	0.35619	.	.	0.422626554966	0.28198	T	0.405612	0.76175	T	-0.279517	0.10718	T	-0.161959	0.58175	T	0.0577038513430154	0.06802	T	.	.	.	0.3764873	0.59061	0.42302984	0.66186	0.3764873	0.59062	0.42302984	0.66186	-7.477	0.57448	T	.	.	0.213	0.44161	B	.	.	4.498872	0.70345	25.5	0.99904976033344473	0.97576	0.95665	0.65638	D	AEFDBHCI	0.902605	0.85069	D	0.853943115342182	0.89332	9.928374	0.821114094472181	0.91222	10.77847	0.999999999999936	0.74766	0.615755	0.39536	0	0.618376	0.53248	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	5.91	5.91	0.95240	7.474000	0.80024	8.656000	0.77953	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.811000	0.38219	0.0:0.0:1.0:0.0	19.894	0.96941	463	0.78548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1147.98	36	chr16	70809809	.	G	A	1147.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.682;DP=807;ExcessHet=0.0000;FS=0.722;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=-1.452e+00;SOR=0.595	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr16	70884028	70884028	C	T	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon59:c.G9871A:p.A3291T,	Ciliary dyskinesia, primary, 5, Autosomal recessive	.	0	1509	12	1	0	14	0.00461741	.	.	2817666	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.76	T	0.004	B	0.011	B	0.005	U	1.000	D	0.345	N	5.63	T	-0.805	T	0.003	T	0.081	3.600	18.33	5.01	1.122	3.453	15.221	0.140	0.012957347058	.	.	0.0011	0.0007	0.0009	0	0.0002	0.0012	0.0046	0.0014	0.0002305	6	26028	rs1798440	0.0010	0.0017	0.0009	0.0012	0.0068	0.0010	0.0010	0.0051	0.0045	0.0003	0.0015	7.653e-05	0	0.0002	0.0068	0.0009	0.0014	0.0030	0.0010	0.0011	0.0010	0.0010	0.0027	0.0009	0.0008	0.0016	0.0013	0.0003	0	0.0009	0	0	0	0.0068	0.0016	0.0014	0.0027	0.801	0.03109	T	.	.	.	.	.	.	.	.	.	0.005375	0.32858	U	0.000000	0.999655	0.20771	N	0.345	0.11182	N	5.63	0.00800	T	-0.25	0.11008	N	0.13	0.12484	-0.8055	0.54819	T	0.003	0.00864	T	10	0.010524392	0.00234	T	0.012957	0.31981	T	0.140	0.37593	.	.	0.0551355673512	0.04727	0.2614032634542387	0.26053	.	.	0.402422636747	0.25406	T	0.023221	0.17762	T	-0.611916	0.00123	T	-0.708099	0.05394	T	0.0182645641596106	0.00546	T	.	.	.	0.063533396	0.13388	0.087894805	0.20460	0.063533396	0.13387	0.087894805	0.20459	-4.103	0.25335	T	.	.	0.069	0.02993	B	.	.	3.327269	0.45789	22.2	0.98914106075082664	0.48436	0.85183	0.44294	D	AEFDBI	0.297328	0.40694	N	-0.578649584082461	0.19593	1.026724	-0.366086567752297	0.26016	1.434331	0.999999999934838	0.74766	0.603402	0.35316	0	0.548873	0.16688	0	0.005938	0.00136	3	0.530356	0.10902	0	.	.	5.01	5.01	0.66477	2.022000	0.40651	6.759000	0.56531	-0.107000	0.15377	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:0.1417:0.8583:0.0	15.221	0.72999	519	0.74455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2027.11	120	chr16	70884028	.	C	T	2027.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.41;DP=901;ExcessHet=0.1072;FS=6.335;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=45.86;MQRankSum=-5.924e+00;QD=8.52;ReadPosRankSum=1.48;SOR=1.074	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1214	19	0	2	0
chr16	70903658	70903658	C	T	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon52:c.G8816A:p.R2939K,	Ciliary dyskinesia, primary, 5, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.019	B	0.01	B	0.056	U	1.000	D	-0.285	N	5.96	T	-0.876	T	0.001	T	0.125	0.458	6.488	-3.75	-0.530	-0.774	12.729	0.031	.	.	0.0151757	.	.	.	.	.	.	.	.	0.0006986	108	154602	rs7188837	0.0013	0.0011	0.0016	0.0010	0.0389	0.0012	0.0011	0.0345	0.0328	0.0389	0.0023	0	0	0	0	6.604e-05	0.0025	5.725e-05	0.0048	0.0094	0.0051	0.0045	0.0238	0.0039	0.0036	0.0193	0.0177	0.0238	0	0.0016	0	0	0	0	0	0.0040	0	1.0	0.00964	T	.	.	.	.	.	.	.	.	.	0.056125	0.22585	U	0.208574	0.998684	0.21986	N	0.14	0.08730	N	5.96	0.00610	T	0.8	0.01866	N	0.134	0.13055	-0.8757	0.50097	T	0.001	0.00348	T	10	0.0012927651	0.00014	T	.	.	.	0.031	0.07369	0.178	0.08503	0.0551355673512	0.04727	0.07024176400561714	0.06961	.	.	0.276318728924	0.06985	T	0.019093	0.15273	T	-0.689063	0.00042	T	-0.734705	0.04117	T	0.00385953022614399	0.00041	T	.	.	.	0.09015513	0.21088	0.10677997	0.25694	0.09015513	0.21087	0.10677997	0.25693	-2.249	0.04285	T	.	.	0.075	0.05447	B	.	.	-0.098359	0.03650	0.730	0.62893996726318402	0.07080	0.04669	0.10347	N	AEFBI	0.100998	0.20296	N	-1.41849104174756	0.02476	0.1094127	-1.36050720614817	0.03683	0.1723314	0.997256728400133	0.35425	0.59774	0.34471	0	0.596491	0.49125	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.25	-3.75	0.04087	-0.772000	0.04800	-0.607000	0.08241	-0.186000	0.09761	0.000000	0.06391	0.000000	0.08366	0.978000	0.57271	0.0:0.2994:0.0:0.7006	12.729	0.56561	523	0.74147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	86.6	3	chr16	70903658	.	C	T	86.6	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.22;DP=79;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0908;MLEAC=1;MLEAF=0.025;MQ=27.00;MQRankSum=0.00;QD=9.62;ReadPosRankSum=0.464;SOR=0.495	GT:AD:DP:GQ:PL	0/0:3,0:3:9:0,9,92	19	0	1	1
chr16	70941764	70941764	T	C	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon43:c.A6725G:p.Q2242R,	Ciliary dyskinesia, primary, 5, Autosomal recessive	.	1	1476	45	0	0	45	0.015015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.008	N	0.979	N	-2.25	N	1.83	T	-0.944	T	0.011	T	0.018	-1.985	0.007	2.3	0.074	0.490	7.931	0.055	0.00304817483334	.	.	.	.	.	.	.	.	.	.	0.201821	5253	26028	rs2258307	0.0006	0.0046	0.0005	0.0007	0.0030	0.0005	0.0005	0.0026	0.0025	0.0008	0.0020	0.0007	0.0016	0.0004	0.0007	0.0003	0.0006	0.0030	0.0006	0.0069	0.0006	0.0007	0.0015	0.0005	0.0005	0.0007	0.0006	0.0006	0.0012	0.0011	0.0006	0.0007	0.0006	0	0.0004	0.0005	0.0015	1.0	0.00964	T	.	.	.	.	.	.	.	.	.	0.007911	0.31126	N	0.000000	1	0.08975	N	-2.535	0.00052	N	1.83	0.24841	T	0.95	0.01509	N	0.075	0.04913	-0.9444	0.41911	T	0.011	0.03949	T	10	0.014688522	0.00309	T	0.003048	0.06577	T	0.055	0.15663	0.126	0.03173	0.0401082797425	0.02173	0.06463877075559986	0.06402	.	.	0.302159249783	0.10723	T	0.024145	0.18301	T	-0.40012	0.02311	T	-0.812521	0.01609	T	0.00371605582644517	0.00039	T	.	.	.	0.01730264	0.00262	0.047856588	0.06984	0.01730264	0.00262	0.047856588	0.06983	-1.638	0.02072	T	.	.	0.057	0.00514	B	.	.	-0.062839	0.03868	0.839	0.12267503050596004	0.00208	0.00371	0.01888	N	AEFDBI	0.034365	0.04242	N	-2.02332666223511	0.00188	0.008074081	-1.83612994732176	0.00650	0.02891615	0.999998211458731	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.607795	0.38427	0	0.542086	0.14980	0	.	.	5.32	2.3	0.27735	0.561000	0.23220	-0.085000	0.12129	-1.628000	0.00857	0.004000	0.16614	0.000000	0.08366	0.046000	0.14843	0.0:0.6869:0.1154:0.1977	7.931	0.29066	552	0.72024	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.125	329.21	41	chr16	70941764	.	T	C	329.21	.	AC=5;AF=0.125;AN=40;BaseQRankSum=1.36;DP=1795;ExcessHet=1.1607;FS=31.919;InbreedingCoeff=-0.1475;MLEAC=5;MLEAF=0.125;MQ=48.99;MQRankSum=-5.512e+00;QD=0.58;ReadPosRankSum=-2.458e+00;SOR=4.591	GT:AD:DP:GQ:PL	0/0:85,8:93:35:0,35,2314	15	0	5	1
chr16	70943930	70943930	G	A	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon42:c.C6551T:p.P2184L,	Ciliary dyskinesia, primary, 5, Autosomal recessive	.	0	1496	25	1	0	27	0.00894336	.	.	2817697	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.31	T	0.0	B	0.001	B	0.099	N	1.000	N	1.085	L	5.51	T	-0.928	T	0.003	T	0.045	-0.782	0.726	0.298	-0.374	0.169	12.359	0.048	0.00421247922249	8.2e-05	0.000199681	0.0005	0	0.0007	0	0	0.0002	0.0017	0.0018	0.0002975	46	154602	rs201833742	0.0002	0.0002	0.0002	0.0003	0.0047	0.0002	0.0002	0.0033	0.0028	0	0.0003	0	0	0	0.0047	0.0002	0.0002	0.0011	0.0001	0.0001	0.0001	0.0001	0.0014	7.57e-05	6.276e-05	0.0007	0.0005	0	0	0	0	0	0	0	0.0002	0	0.0014	1.0	0.00964	T	.	.	.	.	.	.	.	.	.	0.098996	0.19955	N	0.246545	1	0.08975	N	0.335	0.10427	N	5.51	0.00912	T	-2.48	0.54059	N	0.178	0.19190	-0.9282	0.44400	T	0.003	0.01092	T	10	0.008992434	0.00203	T	0.004212	0.10153	T	0.048	0.13305	.	.	0.0482279557977	0.04254	0.13281182242206993	0.13205	.	.	0.292147189379	0.09236	T	0.288791	0.66158	T	-0.718616	0.00028	T	-0.85057	0.00952	T	0.0098813491200153	0.00131	T	.	.	.	0.0272746	0.01897	0.040950816	0.04543	0.0272746	0.01897	0.040950816	0.04543	-4.602	0.32197	T	.	.	0.068	0.02829	B	.	.	0.275899	0.06533	3.015	0.45450718449104699	0.03568	0.05380	0.11244	N	AEFBI	0.042569	0.06621	N	-1.46768840436088	0.02082	0.09154312	-1.47896888674186	0.02517	0.1159069	0.999599919016024	0.40745	0.497415	0.19182	0	0.59043	0.45803	0	0.491513	0.07944	0	0.613276	0.41899	0	.	.	4.95	0.298	0.15015	0.502000	0.22302	2.248000	0.31665	-0.925000	0.02178	0.002000	0.15269	0.979000	0.30280	0.001000	0.02609	0.2182:0.0:0.7818:0.0	12.359	0.54518	564	0.70960	Hydin adenylate kinase-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1387.98	54	chr16	70943930	.	G	A	1387.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.491e+00;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.88;ReadPosRankSum=0.644;SOR=0.683	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1237	20	0	1	0
chr16	71020213	71020213	T	C	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon22:c.A3291G:p.I1097M,	Ciliary dyskinesia, primary, 5, Autosomal recessive	.	2	1494	24	2	0	28	0.00928382	.	.	2817723	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.3	T	0.703	P	0.181	B	0.112	U	1.000	D	1.385	L	2.81	T	-0.967	T	0.012	T	0.304	2.411	14.02	-9.21	-1.172	-0.549	1.698	0.088	0.0140817100175	0.0021	0.00159744	0.0034	0.0007	0.0004	0.0002	0.0031	0.0047	0.0024	0.0031	0.0028266	437	154602	rs183427172	0.0038	0.0038	0.0038	0.0038	0.0043	0.0037	0.0037	0.0042	0.0042	0.0006	0.0011	0.0006	2.521e-05	0.0044	0.0031	0.0043	0.0030	0.0027	0.0024	0.0024	0.0024	0.0023	0.0036	0.0022	0.0021	0.0032	0.0031	0.0008	0	0.0023	0.0003	0	0.0025	0.0034	0.0036	0.0043	0.0033	0.087	0.32453	T	.	.	.	.	.	.	.	.	.	0.111835	0.19383	U	0.254648	0.999998	0.08975	N	2.67	0.78151	M	2.81	0.10975	T	-0.87	0.23590	N	0.258	0.29197	-0.9672	0.37774	T	0.012	0.04605	T	10	0.0069707036	0.00158	T	0.014082	0.33954	T	0.088	0.25558	.	.	0.0138822411134	0.00435	0.07397533932724035	0.07334	.	.	0.36395534873	0.19961	T	0.057144	0.30484	T	-0.554317	0.00275	T	-0.568748	0.15565	T	0.0185920013155794	0.00574	T	.	.	.	0.113294505	0.26759	0.060531665	0.11542	0.113294505	0.26759	0.060531665	0.11542	-6.574	0.50854	T	.	.	0.176	0.38552	B	.	.	1.027199	0.14072	10.64	0.97822397181407372	0.36200	0.04439	0.10038	N	AEBI	0.068882	0.13607	N	-1.09736083693029	0.06691	0.3087662	-1.28488053743304	0.04634	0.2190485	0.999999997581366	0.74766	0.533608	0.22052	0	0.586423	0.34054	0	0.685742	0.62368	0	0.542086	0.14980	0	.	.	4.61	-9.21	0.00578	-0.488000	0.06578	-1.333000	0.05692	-0.278000	0.06506	0.417000	0.26305	0.000000	0.08366	0.961000	0.51904	0.2194:0.232:0.3592:0.1895	1.698	0.02694	610	0.67008	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	870.98	33	chr16	71020213	.	T	C	870.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=769;ExcessHet=0.0000;FS=8.512;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.21;MQRankSum=0.719;QD=13.61;ReadPosRankSum=0.767;SOR=0.654	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1121	20	0	1	0
chr16	71129710	71129710	G	A	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001198542:exon9:c.C1238T:p.A413V	Ciliary dyskinesia, primary, 5, Autosomal recessive	.	3	1514	5	0	0	5	0.00164853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.411	B	0.145	B	0.585	U	0.996	N	0	N	5.59	T	-0.974	T	0.019	T	0.284	1.071	9.372	3.86	0.855	2.240	11.342	0.079	.	0.0019	0.00539137	0.0036	0.0004	0.0005	0	0.0002	0.0015	0.0067	0.0195	0.0031371	485	154602	rs150136432	0.0032	0.0032	0.0029	0.0035	0.0165	0.0031	0.0031	0.0158	0.0155	0.0003	0.0007	0	2.519e-05	3.744e-05	0.0005	0.0027	0.0030	0.0165	0.0019	0.0019	0.0017	0.0021	0.0182	0.0017	0.0017	0.0152	0.0140	0.0003	0	0.0021	0	0	0	0	0.0022	0.0028	0.0182	0.027	0.46513	D	0.042	0.50226	D	0.301	0.32572	B	0.094	0.30180	B	0.585394	0.11102	U	0.657383	0.996271	0.23064	N	0	0.06538	N	5.59	0.05710	T	-0.97	0.30964	N	0.146	0.14763	-0.9735	0.36453	T	0.019	0.08173	T	10	0.0040670037	0.00079	T	.	.	.	0.079	0.23065	.	.	0.107399877778	0.10242	0.13563045021395093	0.13487	.	.	0.242247447371	0.02996	T	0.066452	0.32950	T	-0.561535	0.00248	T	-0.565103	0.15900	T	0.0145680748363632	0.00299	T	.	.	.	0.05675926	0.11210	0.08637753	0.20007	0.052683085	0.09860	0.090011604	0.21082	-5.151	0.43372	T	.	.	0.106	0.19518	B	.;.;.;.;.	.;.;.;.;.	2.145095	0.27317	17.42	0.96290929746779819	0.29315	0.53425	0.29369	D	AEFDBCI	0.228785	0.35241	N	-0.643677636558329	0.17644	0.9096978	-0.506401638956703	0.21979	1.191582	0.999998842188521	0.74766	0.653281	0.48532	0	0.563428	0.19063	0	0.675528	0.61593	0	0.663205	0.64265	0	.	.	4.97	3.86	0.43689	1.710000	0.37539	0.784000	0.21507	-0.757000	0.03535	0.847000	0.30396	0.039000	0.21534	0.274000	0.23868	0.0:0.0:0.1553:0.8447	11.342	0.48778	675	0.60470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1249.98	37	chr16	71129710	.	G	A	1249.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.093;DP=817;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.48;MQRankSum=1.07;QD=12.50;ReadPosRankSum=1.42;SOR=0.758	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	20	0	1	0
chr16	71448650	71448650	C	T	exonic	ZNF23	.	nonsynonymous SNV	ZNF23:NM_001304494:exon3:c.G1201A:p.V401I	.	.	382	1139	1	0	0	1	0.000438789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.999	D	0.873	P	0.001	N	1.000	N	0.455	N	3.18	T	-1.001	T	0.024	T	0.327	1.389	10.57	4.27	2.659	-1.512	8.271	0.122	0.00760087399043	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1330784737	9.577e-06	9.577e-06	9.529e-06	9.626e-06	0.0002	5.56e-06	4.35e-06	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0.0002	8.094e-06	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.371	0.11514	T	0.321	0.19972	T	0.999	0.77913	D	0.873	0.61978	P	0.001185	0.39899	N	0.000000	0.999754	0.48800	D	0.72	0.18721	N	3.18	0.07478	T	-0.42	0.14193	N	0.249	0.38643	-1.0011	0.29602	T	0.024	0.10374	T	10	0.11199984	0.20993	T	0.007601	0.20166	T	0.122	0.33800	.	.	0.3571064206	0.35317	0.02983468451510246	0.02932	0.309918074836	0.33302	0.602713346481	0.53288	T	0.038412	0.24832	T	-0.357424	0.04278	T	-0.575344	0.14963	T	0.34754267334938	0.26922	T	0.547145	0.18749	T	0.021172494	0.00706	0.026601281	0.00758	0.021172494	0.00706	0.026601281	0.00758	-4.714	0.33573	T	.	.	0.131	0.35162	B	.;.;.;.;.	.;.;.;.;.	2.746586	0.35986	20.1	0.97888787695074475	0.36655	0.00001	0.00044	N	AEFBHCI	0.073517	0.14706	N	-0.0519706356029744	0.39514	2.331454	-0.0741446844710749	0.36463	2.122317	0.693935032953907	0.22620	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.27	4.27	0.50009	-1.305000	0.02846	0.666000	0.20549	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.990000	0.65344	0.0:0.8957:0.0:0.1043	8.271	0.31006	295	0.88218	.;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1200.98	34	chr16	71448650	.	C	T	1200.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.06;DP=777;ExcessHet=0.0000;FS=2.899;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.47;ReadPosRankSum=-9.300e-01;SOR=0.871	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1263	20	0	1	0
chr16	71449753	71449753	T	C	exonic	ZNF23	.	nonsynonymous SNV	ZNF23:NM_001304494:exon3:c.A98G:p.E33G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.868	P	0.393	B	0.155	N	1.000	N	-0.11	N	1.19	T	-1.076	T	0.040	T	0.184	-0.214	2.961	1.49	0.299	0.558	5.102	0.029	0.00935978973252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.68238	T	0.135	0.34124	T	0.18	0.29046	B	0.04	0.23831	B	0.154559	0.17857	N	0.472817	1	0.08975	N	0.88	0.21560	L	1.19	0.37578	T	-1.0	0.32791	N	0.187	0.20395	-1.0763	0.08083	T	0.040	0.17362	T	10	0.064076304	0.08444	T	0.00936	0.24553	T	0.029	0.06676	0.185	0.09388	0.340273420219	0.33633	0.07636895168248027	0.07572	0.137404868956	0.15494	0.260840833187	0.04991	T	0.066319	0.32914	T	-0.190795	0.22141	T	-0.51184	0.21125	T	0.158344283699989	0.17748	T	0.227877	0.24909	T	0.049584284	0.08826	0.035816584	0.02907	0.049584284	0.08825	0.035816584	0.02906	-4.431	0.31330	T	.	.	0.085	0.26886	B	.;.;.;.;.;.	.;.;.;.;.;.	1.927178	0.24478	16.41	0.89252014607652541	0.18638	0.00005	0.00104	N	AEFDBCI	0.079711	0.16104	N	-1.02158275272229	0.08157	0.3814743	-1.08050973794219	0.08085	0.3959712	0.0879130568330179	0.16047	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.76	1.49	0.21966	2.157000	0.41946	2.614000	0.33594	-0.147000	0.12262	0.133000	0.23395	0.972000	0.29809	0.006000	0.07323	0.0:0.1026:0.1844:0.713	5.102	0.14100	293	0.88320	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1098.98	34	chr16	71449753	.	T	C	1098.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.59;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.67;ReadPosRankSum=0.812;SOR=0.740	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1263	20	0	1	0
chr16	71453266	71453266	G	C	exonic	ZNF23	.	nonsynonymous SNV	ZNF23:NM_001304492:exon4:c.C119G:p.T40R	.	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.003	B	0.004	B	0.387	N	1.000	N	-0.28	N	1.51	T	-1.044	T	0.025	T	0.185	1.185	9.817	-4.4	-0.487	-0.080	0.141	0.076	0.00348141894052	.	.	0.0001	0	0	0	0	0.0002	0	9.124e-05	8.41e-05	13	154602	rs531705739	0.0001	0.0001	9.693e-05	0.0001	0.0073	8.678e-05	8.165e-05	0.0055	0.0049	8.983e-05	0.0001	0.0002	0	0	0.0073	6.13e-05	0.0003	4.718e-05	0.0001	0.0001	0.0001	0.0001	0.0002	6.505e-05	5.318e-05	6.804e-05	5.087e-05	0	0	0.0001	0	0	0	0.0068	0.0001	0.0009	0.0002	0.551	0.42487	T	0.629	0.10750	T	0.003	0.11197	B	0.002	0.06944	B	0.387112	0.04455	N	1.472710	1	0.08975	N	0.605	0.15622	N	1.51	0.30937	T	0.31	0.06612	N	0.092	0.07673	-1.0435	0.16265	T	0.025	0.10821	T	10	0.038754284	0.02316	T	0.003481	0.07878	T	0.076	0.22200	.	.	0.137902524267	0.13322	0.0891729014795682	0.08850	0.0974575988704	0.11007	0.32345405221	0.13944	T	0.032862	0.22669	T	-0.464123	0.00926	T	-0.649411	0.08995	T	0.0181078319781611	0.00533	T	0.039596	0.00729	T	0.044514835	0.07129	0.042170346	0.04962	0.044514835	0.07129	0.042170346	0.04962	-3.538	0.16968	T	.	.	0.108	0.20313	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.195303	0.03114	0.496	0.5894235263875377	0.06108	0.07392	0.13412	N	AEFDGBI	0.087267	0.17695	N	-1.60646079626544	0.01232	0.05360148	-1.61558263859764	0.01563	0.07086023	0.974257575663825	0.29526	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.99	-4.4	0.03349	-1.251000	0.02993	-0.199000	0.10963	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.099000	0.18236	0.2744:0.2546:0.2119:0.2592	0.141	0.00077	288	0.88579	.;Krueppel-associated box;Krueppel-associated box;Krueppel-associated box;.;Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1787.98	39	chr16	71453266	.	G	C	1787.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.025;DP=853;ExcessHet=0.0000;FS=1.329;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.96;ReadPosRankSum=-1.770e-01;SOR=0.637	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1383	20	0	1	0
chr16	71476059	71476059	C	T	exonic	ZNF19	.	nonsynonymous SNV	ZNF19:NM_006961:exon6:c.G488A:p.C163Y,	.	.	405	1112	5	0	0	5	0.00224316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	1.0	D	0.001	D	1.000	D	2.78	M	0.34	T	-0.313	T	0.282	T	0.955	3.549	18.10	3.49	2.250	5.258	13.338	0.540	0.0170179427027	.	0.00219649	0.0007	0	0	0.0083	0	4.498e-05	0	0.0009	0.0006727	104	154602	rs190278786	0.0003	0.0003	0.0003	0.0004	0.0097	0.0003	0.0003	0.0089	0.0086	0	0	0.0005	0.0097	0	0.0002	2.338e-05	0.0004	0.0007	0.0004	0.0004	0.0003	0.0005	0.0094	0.0003	0.0003	0.0073	0.0066	2.405e-05	0	0	0	0.0094	0	0	1.47e-05	0.0009	0.0008	0.029	0.55530	D	0.004	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000877	0.41335	D	0.000000	0.999325	0.81001	D	2.775	0.80997	M	0.34	0.58176	T	-9.78	0.98706	D	0.668	0.74280	-0.3131	0.74617	T	0.282	0.65399	T	10	0.010553688	0.00234	T	0.017018	0.38544	T	0.540	0.80782	.	.	0.853017609679	0.85160	0.28323122065375345	0.28236	0.318075903354	0.34041	0.705370187759	0.67921	T	0.446249	0.78896	T	-0.0305	0.47344	T	0.188399	0.82478	D	0.169650693484362	0.18556	T	0.367963	0.09172	T	0.740345	0.80312	0.58208954	0.75773	0.740345	0.80313	0.58208954	0.75774	-12.744	0.88281	D	.	.	0.953	0.87554	P	.;.;.;.	.;.;.;.	3.677270	0.52319	23.2	0.99710794525760049	0.81353	0.98170	0.80208	D	AEFBI	0.776362	0.70950	D	0.680050018923375	0.78325	6.848878	0.561515078504912	0.72202	5.772839	0.999999999951456	0.74766	0.651	0.46895	0	0.624146	0.53433	0	0.65145	0.50148	0	0.528226	0.09195	0	.	.	3.49	3.49	0.39065	4.705000	0.61527	4.525000	0.43702	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.647000	0.32611	0.0:1.0:0.0:0.0	13.338	0.59971	264	0.89640	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1477.98	42	chr16	71476059	.	C	T	1477.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.748e+00;DP=971;ExcessHet=0.0000;FS=0.622;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.12;ReadPosRankSum=0.292;SOR=0.763	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1424	20	0	1	0
chr16	71640847	71640847	C	G	exonic	MARVELD3	.	nonsynonymous SNV	MARVELD3:NM_001017967:exon3:c.C1053G:p.C351W,	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	.	.	-2.22	D	0.479	D	0.729	D	0.621	3.675	18.68	4.63	2.677	0.696	5.234	0.610	0.156131669314	.	.	1.65e-05	0	0	0	0	3.004e-05	0	0	1.29e-05	2	154602	rs780346547	4.104e-06	4.104e-06	0	8.25e-06	4.496e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	1.656e-05	0	1.971e-05	1.97e-05	0	4.035e-05	4.409e-05	5.24e-06	2.45e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-2.22	0.87038	D	-10.08	0.98868	D	0.908	0.90932	0.479	0.90257	D	0.729	0.90729	D	9	0.9722334	0.96861	D	0.156132	0.83695	D	0.610	0.84719	.	.	0.853384332049	0.85197	0.8207526624986886	0.82032	0.981304557539	0.73751	.	.	.	.	.	.	0.11	0.65353	D	-0.0161232	0.69284	D	0.976649105548859	0.71474	D	0.559944	0.19565	T	.	.	.	.	.	.	.	.	-12.258	0.86084	D	.	.	0.921	0.84317	P	.	.	3.497639	0.48918	22.7	0.99505947038945219	0.68322	0.90805	0.52294	D	AEFBI	0.819570	0.74056	D	0.582574220144458	0.72088	5.750882	0.574796355243944	0.73137	5.921718	0.95732465702122	0.28297	0.650006	0.45971	0	0.573888	0.26702	0	0.606735	0.37207	0	0.613276	0.41899	0	.	.	5.67	4.63	0.57175	0.514000	0.22492	3.300000	0.37375	0.599000	0.40250	0.992000	0.37556	1.000000	0.68203	0.994000	0.71098	0.0:0.7669:0.0:0.2331	5.234	0.14757	105	0.95676	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2901.98	219	chr16	71640847	.	C	G	2901.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.480e-01;DP=959;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.25;ReadPosRankSum=-8.750e-01;SOR=0.675	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1321	20	0	1	0
chr16	71655313	71655313	C	T	exonic	PHLPP2	.	nonsynonymous SNV	PHLPP2:NM_001289003:exon16:c.G2311A:p.V771M	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.999	D	0.000	D	1.000	D	2.16	M	2.94	T	-1.133	T	0.090	T	0.682	5.015	29.5	5.57	2.612	4.963	18.541	0.191	0.0273186590112	.	.	8.236e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs761790804	6.157e-06	6.156e-06	4.084e-06	8.251e-06	7.195e-06	2.9e-06	2.1e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.195e-06	1.656e-05	0	6.57e-06	6.566e-06	1.284e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.006	0.61437	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.915	0.51223	L	2.94	0.09728	T	-1.37	0.34397	N	0.623	0.69213	-1.1330	0.01644	T	0.090	0.34683	T	10	0.55421734	0.64426	D	0.027319	0.50142	D	0.191	0.46948	0.739	0.87147	0.704118753258	0.70154	0.4345504182772695	0.43372	0.362069930752	0.37861	0.730054020882	0.71514	T	0.032844	0.22661	T	-0.0210776	0.48701	T	-0.252567	0.49562	T	0.743129213245153	0.42906	D	0.951905	0.93484	D	0.3048192	0.53333	0.29259294	0.55286	0.3048192	0.53333	0.29259294	0.55285	-6.73	0.54659	T	.	.	0.638	0.71468	P	.;.;.	.;.;.	4.836818	0.78926	27.0	0.99920801724224018	0.98721	0.97922	0.78147	D	AEFBI	0.632342	0.61299	D	0.763475969101139	0.83779	8.107795	0.745189729164528	0.85797	8.689152	0.99999999998416	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.57	5.57	0.84021	5.038000	0.63972	7.721000	0.67307	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.541	0.90981	91	0.96221	PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain;.;PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1617.98	33	chr16	71655313	.	C	T	1617.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.290;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.48;ReadPosRankSum=1.55;SOR=0.752	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1157	20	0	1	0
chr16	71850328	71850328	C	G	exonic	ATXN1L	.	nonsynonymous SNV	ATXN1L:NM_001137675:exon3:c.C588G:p.H196Q,	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.0	B	0.002	B	.	.	0.999	N	1.5	L	1.43	T	-1.017	T	0.005	T	0.136	0.117	4.632	-2.71	-0.342	-0.260	7.311	0.047	.	0.0079	0.0119808	0.0027	0.0234	0.0049	0	0	0	0.0053	0.0001	0.0010026	155	154602	rs61747485	0.0008	0.0008	0.0009	0.0007	0.0285	0.0008	0.0007	0.0270	0.0264	0.0285	0.0017	0	0	0	0.0012	1.298e-05	0.0021	8.835e-05	0.0081	0.0081	0.0086	0.0076	0.0281	0.0077	0.0076	0.0267	0.0262	0.0281	0	0.0034	0	0	0	0.0034	8.82e-05	0.0038	0	0.067	0.35918	T	0.096	0.39340	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	0.99878	0.21910	N	1.845	0.48678	L	1.43	0.32958	T	-1.52	0.36980	N	0.185	0.20129	-1.0166	0.24819	T	0.005	0.01615	T	9	0.0014721155	0.00016	T	.	.	.	0.047	0.12962	0.141	0.04462	0.0482279557977	0.04254	0.5830960056205651	0.58238	.	.	0.494818389416	0.38106	T	0.015668	0.13095	T	-0.599054	0.00148	T	-0.613004	0.11742	T	0.00463879267052449	0.00050	T	0.523848	0.17156	T	0.09097166	0.21304	0.095584214	0.22675	0.09097166	0.21303	0.095584214	0.22675	-3.604	0.17915	T	.	.	0.173	0.37876	B	.	.	0.057436	0.04691	1.335	0.83896611459834725	0.14981	0.48818	0.28293	N	AEFBCI	0.190915	0.31813	N	-0.751143015651418	0.14602	0.728769	-0.718357103580952	0.16504	0.8733746	0.804535770809129	0.24245	0.631515	0.41029	0	0.697927	0.68747	0	0.575934	0.27490	0	0.635551	0.53088	0	.	.	5.5	-2.71	0.05633	-0.306000	0.08217	-0.019000	0.12951	0.599000	0.40250	0.009000	0.18154	0.744000	0.26502	0.926000	0.46234	0.0:0.4853:0.1105:0.4042	7.311	0.25647	83	0.96533	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2136.98	33	chr16	71850328	.	C	G	2136.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.113e+00;DP=908;ExcessHet=0.0000;FS=2.536;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.90;ReadPosRankSum=-2.800e-02;SOR=0.524	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1188	20	0	1	0
chr16	71850466	71850466	G	T	exonic	ATXN1L	.	nonsynonymous SNV	ATXN1L:NM_001137675:exon3:c.G726T:p.L242F,	.	.	425	1089	7	1	0	9	0.00411523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.255	B	0.025	B	.	.	0.998	N	0	N	1.4	T	-1.095	T	0.030	T	0.227	1.183	9.811	4.28	2.631	0.768	9.837	0.046	0.00387732748669	.	0.00159744	0.0028	0	0	0	0	0.0053	0	0.0014	0.0007568	117	154602	rs140112104	0.0028	0.0027	0.0028	0.0028	0.0074	0.0027	0.0027	0.0056	0.0050	0.0005	0.0023	0.0053	0	0.0008	0.0074	0.0031	0.0023	0.0016	0.0022	0.0022	0.0020	0.0023	0.0034	0.0020	0.0019	0.0031	0.0029	0.0006	0	0.0029	0.0037	0	0.0005	0.0170	0.0034	0.0019	0.0006	0.059	0.37536	T	0.693	0.05863	T	0.255	0.31319	B	0.025	0.20508	B	.	.	.	.	0.998111	0.22343	N	0	0.06538	N	1.4	0.33630	T	-0.88	0.23808	N	0.133	0.12913	-1.0951	0.04738	T	0.030	0.13067	T	9	0.004748881	0.00100	T	0.003877	0.09117	T	0.046	0.12618	0.102	0.01589	0.229924730088	0.22615	0.13991815819134318	0.13914	.	.	0.476045012474	0.35513	T	0.008887	0.08127	T	-0.52941	0.00387	T	-0.535658	0.18726	T	0.0107182480058163	0.00151	T	0.734227	0.35027	T	0.059047904	0.11953	0.11161324	0.26926	0.059047904	0.11953	0.11161324	0.26925	-4.462	0.30388	T	.	.	0.084	0.09481	B	.	.	3.328884	0.45818	22.2	0.98841391330813078	0.47135	0.87012	0.46427	D	AEFBCI	0.236999	0.35936	N	-0.199905727226656	0.33138	1.876696	0.00204800491214126	0.39810	2.366166	0.963718871140352	0.28710	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.25	4.28	0.50183	0.458000	0.21603	6.514000	0.55815	0.676000	0.76740	0.900000	0.31427	1.000000	0.68203	0.999000	0.91618	0.1224:0.1297:0.7479:0.0	9.837	0.40142	83	0.96533	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1678.98	153	chr16	71850466	.	G	T	1678.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.941;DP=869;ExcessHet=0.0000;FS=1.290;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.97;ReadPosRankSum=1.32;SOR=0.841	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1188	20	0	1	0
chr16	71851530	71851530	C	A	exonic	ATXN1L	.	nonsynonymous SNV	ATXN1L:NM_001137675:exon3:c.C1790A:p.P597H,	.	.	427	1075	19	1	0	21	0.00967296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.01	B	0.004	B	.	.	0.612	D	0.895	L	1.24	T	-1.039	T	0.047	T	0.201	1.050	9.287	5.61	2.821	3.627	9.704	0.058	.	0.0039	0.0141773	0.0300	0.0010	0.0073	0	0.0588	0.0057	0.0160	0.0672	0.0050517	781	154602	rs61747556	0.0092	0.0088	0.0076	0.0108	0.0644	0.0090	0.0090	0.0629	0.0623	0.0007	0.0014	0.0009	0.0001	0.0134	0.0033	0.0060	0.0086	0.0644	0.0061	0.0062	0.0047	0.0076	0.0668	0.0058	0.0057	0.0608	0.0584	0.0007	0	0.0019	0.0009	0.0006	0.0157	0	0.0055	0.0033	0.0668	0.254	0.16903	T	0.266	0.22627	T	0.01	0.15535	B	0.004	0.10090	B	.	.	.	.	0.611811	0.32628	D	1.525	0.38595	L	1.24	0.36691	T	-0.49	0.15578	N	0.083	0.05929	-1.0389	0.17648	T	0.047	0.20275	T	9	0.0016744435	0.00020	T	.	.	.	0.058	0.16647	.	.	.	.	0.29031691364236617	0.28944	.	.	0.48959133029	0.37381	T	0.006306	0.05746	T	-0.551346	0.00286	T	-0.516067	0.20693	T	0.00751254747758507	0.00087	T	0.649135	0.25986	T	0.09877813	0.23303	0.1231305	0.29693	0.09877813	0.23303	0.1231305	0.29692	-5.547	0.42306	T	.	.	0.085	0.09965	B	.	.	3.196993	0.43459	21.7	0.9358753258626582	0.23437	0.97145	0.72954	D	AEFDBCI	0.394636	0.47181	N	-0.00743805226345556	0.41518	2.484805	0.201119503355324	0.49911	3.189	0.999975825733809	0.50053	0.631515	0.41029	0	0.697927	0.68747	0	0.575934	0.27490	0	0.635551	0.53088	0	.	.	5.61	5.61	0.85347	2.144000	0.41821	5.957000	0.51754	0.599000	0.40250	0.983000	0.35670	1.000000	0.68203	0.999000	0.91618	0.0:0.7751:0.1446:0.0803	9.704	0.39373	84	0.96491	.	.	.	.	.	rs61747556	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2486.98	38	chr16	71851530	.	C	A	2486.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.058e+00;DP=922;ExcessHet=0.0000;FS=0.551;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.74;ReadPosRankSum=0.899;SOR=0.763	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1188	20	0	1	0
chr16	71947503	71947503	A	G	exonic	PKD1L3	.	nonsynonymous SNV	PKD1L3:NM_181536:exon22:c.T3707C:p.L1236S,	.	.	439	1079	4	0	0	4	0.00185014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0007	0.0010	0	0	0	0.0015	0	0	0.0001552	24	154602	rs200917227	0.0019	0.0018	0.0020	0.0018	0.0024	0.0018	0.0018	0.0023	0.0022	0.0002	0.0002	3.985e-05	0	0.0003	0.0018	0.0024	0.0012	0.0001	0.0014	0.0013	0.0016	0.0011	0.0026	0.0012	0.0012	0.0023	0.0022	0.0003	0	0.0009	0	0	9.764e-05	0	0.0026	0.0010	0.0002	.	.	.	0.002	0.79402	D	0.998	0.73220	D	0.863	0.61398	P	.	.	.	.	.	.	.	2.19	0.61577	M	.	.	.	.	.	.	0.549	0.57518	.	.	.	.	.	.	.	0.029564202	0.01083	T	.	.	.	.	.	.	.	0.209622950755	0.20551	0.2815174154147947	0.28064	.	.	0.324349761009	0.14080	T	0.028023	0.20393	T	-0.393358	0.02558	T	-0.338964	0.40462	T	.	.	.	0.424758	0.11367	T	0.17527133	0.38377	0.40094346	0.64617	0.17527133	0.38377	0.40094346	0.64617	-3.311	0.13879	T	.	.	0.271	0.50509	B	.	.	3.413851	0.47373	22.4	0.82212547084786658	0.14076	0.87115	0.46558	D	AEFDI	.	.	.	.	.	.	.	.	.	0.999744701595766	0.42466	0.053691	0.00478	0	0.060609	0.00678	0	0.060301	0.00762	0	0.058706	0.01089	0	0.917243	0.58151	4.99	4.99	0.65942	3.574000	0.53608	6.147000	0.54138	0.677000	0.82338	1.000000	0.71638	1.000000	0.68203	0.303000	0.24570	1.0:0.0:0.0:0.0	11.359	0.48873	78	0.96748	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	707.98	34	chr16	71947503	.	A	G	707.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.280e-01;DP=872;ExcessHet=0.0000;FS=4.121;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.05;ReadPosRankSum=0.390;SOR=1.144	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1476	20	0	1	0
chr16	71947528	71947529	TC	-	exonic	PKD1L3	.	stopgain	PKD1L3:NM_181536:exon22:c.3681_3682del:p.N1228*,	.	.	435	1086	1	0	0	1	0.000460193	.	.	703791	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0064	0.0121805	0.0024	0.0225	0.0024	0	0	0	0.0041	0.0001	0.0023821	62	26028	rs201384669	0.0008	0.0008	0.0009	0.0007	0.0280	0.0007	0.0007	0.0265	0.0259	0.0280	0.0017	0	0	0	0.0012	1.303e-05	0.0020	8.849e-05	0.0081	0.0081	0.0086	0.0075	0.0280	0.0077	0.0075	0.0266	0.0261	0.0280	0	0.0034	0	0	0	0.0034	8.821e-05	0.0038	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1742.94	34	chr16	71947527	.	TTC	T	1742.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.900e-02;DP=866;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.16;ReadPosRankSum=-4.950e-01;SOR=0.625	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1476	20	0	1	0
chr16	71973406	71973406	C	T	exonic	PKD1L3	.	nonsynonymous SNV	PKD1L3:NM_181536:exon12:c.G1871A:p.S624N,	.	.	431	1085	6	0	0	6	0.00275735	.	.	2365080	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	.	0.0009	0	0	0	0	0.0017	0.0042	0.0004	0.0002329	36	154602	rs200862662	0.0004	0.0004	0.0004	0.0005	0.0018	0.0004	0.0004	0.0010	0.0007	9.494e-05	0.0006	0.0023	0	2.031e-05	0.0018	0.0004	0.0008	0.0004	0.0005	0.0005	0.0006	0.0004	0.0008	0.0004	0.0004	0.0006	0.0006	2.405e-05	0.0022	0.0006	0.0023	0	0	0	0.0008	0.0005	0.0002	.	.	.	0.214	0.26386	T	0.128	0.27003	B	0.014	0.16862	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.02366	.	.	.	.	.	.	.	0.009675503	0.00218	T	.	.	.	.	.	.	.	0.151104730317	0.14643	0.3491660385468331	0.34830	.	.	0.214171379805	0.01001	T	0.021304	0.16611	T	-0.481834	0.00721	T	-0.544159	0.17891	T	.	.	.	0.268373	0.04464	T	0.022879412	0.00983	0.06863302	0.14357	0.022879412	0.00982	0.06863302	0.14357	-4.985	0.36677	T	.	.	0.104	0.18663	B	.	.	-0.242611	0.02879	0.410	0.60615052387581358	0.06506	0.02380	0.06763	N	AEFDBHI	.	.	.	.	.	.	.	.	.	0.00272925197803808	0.09662	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.058706	0.01089	0	0.0468684	0.05763	4.78	-1.72	0.07671	-0.187000	0.09652	-0.195000	0.11000	-0.208000	0.08445	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.4775:0.1643:0.2061:0.1521	1.332	0.02008	88	0.96322	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1031.98	42	chr16	71973406	.	C	T	1031.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.195;DP=803;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.22;ReadPosRankSum=-1.732e+00;SOR=0.722	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1199	20	0	1	0
chr16	71973443	71973443	G	C	exonic	PKD1L3	.	nonsynonymous SNV	PKD1L3:NM_181536:exon12:c.C1834G:p.L612V,	.	.	433	1084	4	1	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.145e-07	6.84e-07	1.41e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.723e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.773	0.04431	T	0.132	0.27209	B	0.031	0.21939	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00942	.	.	.	.	.	.	.	0.069598496	0.10007	T	.	.	.	.	.	.	.	0.0401082797425	0.02173	0.3116762149970256	0.31080	.	.	0.261261641979	0.05042	T	0.014587	0.12389	T	-0.153322	0.27793	T	-0.458013	0.26816	T	.	.	.	0.371963	0.08817	T	0.02456752	0.01301	0.047452465	0.06837	0.02456752	0.01301	0.047452465	0.06836	-5.571	0.42526	T	.	.	0.083	0.09191	B	.	.	-0.716730	0.01283	0.068	0.42079830302029975	0.03078	0.01709	0.05426	N	AEFDBHI	.	.	.	.	.	.	.	.	.	0.988702153200608	0.31601	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.058706	0.01089	0	0.0468684	0.05763	5.39	-9.01	0.00638	-0.237000	0.09007	-1.721000	0.04849	-0.642000	0.04431	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2516:0.2963:0.3637:0.0883	4.075	0.09376	88	0.96322	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1379.98	42	chr16	71973443	.	G	C	1379.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.629;DP=866;ExcessHet=0.0000;FS=0.713;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=-4.780e-01;SOR=0.844	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1199	20	0	1	0
chr16	71977263	71977263	G	C	exonic	PKD1L3	.	nonsynonymous SNV	PKD1L3:NM_181536:exon11:c.C1732G:p.L578V,	.	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0055	0.00179712	0.0028	0.0014	0	0	0.0037	0.0045	0.0165	0.0011	0.0010931	169	154602	rs139831076	0.0047	0.0047	0.0048	0.0046	0.0054	0.0046	0.0046	0.0053	0.0052	0.0005	0.0041	0.0027	5.608e-05	0.0033	0.0034	0.0054	0.0043	0.0011	0.0037	0.0037	0.0038	0.0035	0.0061	0.0034	0.0033	0.0056	0.0054	0.0010	0	0.0036	0.0017	0	0.0029	0	0.0061	0.0024	0.0012	.	.	.	0.0	0.92824	D	0.999	0.77913	D	0.991	0.79672	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	0.34659	.	.	.	.	.	.	.	0.01028201	0.00229	T	.	.	.	.	.	.	.	0.144782658237	0.14088	0.38083282148693404	0.37998	.	.	0.379869073629	0.22239	T	0.085117	0.37429	T	-0.239699	0.15387	T	-0.11378	0.62309	T	.	.	.	0.510849	0.16306	T	0.10807859	0.25556	0.28520867	0.54523	0.10807859	0.25556	0.28520867	0.54522	-8.603	0.65109	D	.	.	0.208	0.43558	B	.	.	2.638330	0.34320	19.59	0.75063295232350136	0.10931	0.88356	0.48246	D	AEFDI	.	.	.	.	.	.	.	.	.	0.0338628262973798	0.14126	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.058706	0.01089	0	0.623454	0.41225	5.1	4.15	0.47978	2.721000	0.46930	3.660000	0.39404	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.367000	0.26044	0.0895:0.0:0.9105:0.0	11.300	0.48536	91	0.96221	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1638.98	34	chr16	71977263	.	G	C	1638.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.120e+00;DP=886;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=-5.160e-01;SOR=0.652	GT:AD:DP:GQ:PL	0/1:72,63:135:99:1653,0,2010	20	0	1	0
chr16	71978340	71978340	C	G	exonic	PKD1L3	.	nonsynonymous SNV	PKD1L3:NM_181536:exon10:c.G1442C:p.R481T,	.	.	437	1061	21	3	0	27	0.012564	.	.	2817746	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0046	0.00139776	0.0046	0.0005	0.0049	0	0.0018	0.0069	0.0041	0.0039	0.001229	190	154602	rs78847227	0.0043	0.0042	0.0043	0.0044	0.0119	0.0042	0.0042	0.0097	0.0088	0.0008	0.0042	0.0085	0	0.0012	0.0119	0.0046	0.0055	0.0035	0.0033	0.0033	0.0035	0.0031	0.0049	0.0030	0.0030	0.0044	0.0043	0.0006	0.0164	0.0042	0.0089	0	0.0009	0.0102	0.0049	0.0048	0.0023	.	.	.	0.06	0.45744	T	0.22	0.30288	B	0.036	0.22909	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.08786	.	.	.	.	.	.	.	0.004127741	0.00081	T	.	.	.	.	.	.	.	0.112648838833	0.10856	0.3126974060576522	0.31182	.	.	0.324828505516	0.14152	T	0.031258	0.21961	T	-0.453462	0.01077	T	-0.420138	0.31060	T	.	.	.	0.464354	0.13557	T	0.063487284	0.13372	0.092124306	0.21695	0.063487284	0.13372	0.092124306	0.21694	-3.568	0.17395	T	.	.	0.126	0.26669	B	.	.	-0.049723	0.03950	0.884	0.59147332785512841	0.06156	0.01292	0.04497	N	AEFDI	.	.	.	.	.	.	.	.	.	3.6990022583737E-4	0.06707	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.058706	0.01089	0	0.0970973	0.21743	4.92	-1.59	0.08003	-0.857000	0.04394	-0.881000	0.07064	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.092000	0.17891	0.0:0.3611:0.1605:0.4784	4.706	0.12228	93	0.96133	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1024.98	36	chr16	71978340	.	C	G	1024.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.419e+00;DP=854;ExcessHet=0.0000;FS=1.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.67;ReadPosRankSum=-9.460e-01;SOR=0.532	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr16	71982225	71982225	A	G	exonic	PKD1L3	.	nonsynonymous SNV	PKD1L3:NM_181536:exon7:c.T977C:p.I326T,	.	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs990480822	7.741e-06	6.842e-06	6.1e-06	9.433e-06	6.474e-05	3.91e-06	2.85e-06	1.072e-05	4.01e-06	0	6.474e-05	4.862e-05	0	0	0	5.941e-06	1.964e-05	0	1.364e-05	1.347e-05	2.654e-05	0	2.48e-05	2.27e-06	8.5e-07	.	.	2.48e-05	0	0	0	0	0	0	0	0.0005	0	.	.	.	0.107	0.37730	T	0.421	0.35387	B	0.086	0.29521	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.21969	.	.	.	.	.	.	.	0.08483541	0.14259	T	.	.	.	.	.	.	.	0.130388298395	0.12655	0.07185639025437111	0.07122	.	.	0.480924427509	0.36184	T	0.014422	0.12283	T	-0.0644101	0.42216	T	-0.13198	0.60804	T	.	.	.	0.416558	0.10945	T	0.025855865	0.01572	0.08635124	0.20001	0.025855865	0.01571	0.08635124	0.20000	-2.869	0.08837	T	.	.	0.188	0.40457	B	.	.	0.762214	0.11320	7.941	0.66628433726496239	0.08115	0.00826	0.03330	N	AEFDHCI	.	.	.	.	.	.	.	.	.	0.931082602245109	0.27034	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.058706	0.01089	0	0.0798854	0.18414	4.89	0.961	0.18758	0.560000	0.23204	1.974000	0.30001	0.745000	0.86679	0.001000	0.13787	0.002000	0.18203	0.241000	0.23027	0.5888:0.3013:0.1099:0.0	4.822	0.12759	101	0.95833	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	480.98	43	chr16	71982225	.	A	G	480.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=804;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=1.74;SOR=0.712	GT:AD:DP:GQ:PL	0/0:58,0:58:65:0,65,1432	20	0	1	0
chr16	72056553	72056553	G	A	exonic	HP	.	nonsynonymous SNV	HP:NM_001318138:exon3:c.G112A:p.E38K	.	.	438	1080	4	0	0	4	0.00184843	.	.	703796	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	0.168	B	0.019	B	.	.	1.000	N	1.04	L	0.79	T	-1.025	T	0.078	T	0.517	-0.323	2.466	-2.33	-0.385	-0.094	6.607	0.140	.	0.0034	0.00159744	0.0032	0.0014	0.0106	0	0	0.0071	0	0	0.0014489	224	154602	rs201773535	0.0044	0.0044	0.0045	0.0043	0.0053	0.0043	0.0043	0.0052	0.0051	0.0006	0.0049	0.0006	0	0.0004	0.0012	0.0053	0.0038	0.0001	0.0029	0.0031	0.0032	0.0026	0.0061	0.0027	0.0026	0.0050	0.0046	0.0009	0	0.0061	0.0003	0	0	0	0.0043	0.0029	0	0.102	0.30235	T	0.155	0.34477	T	0.168	0.28654	B	0.019	0.18783	B	.	.	.	.	1	0.08975	N	2.455	0.71248	M	0.79	0.49068	T	-0.34	0.24244	N	0.222	0.30800	-1.0252	0.22017	T	0.078	0.31072	T	9	0.006028712	0.00135	T	.	.	.	0.140	0.37593	.	.	0.191931220699	0.18833	0.3532860704086001	0.35242	0.279873614581	0.30470	0.38136446476	0.22449	T	0.297948	0.67053	T	-0.467799	0.00878	T	-0.443647	0.28400	T	0.0062404167789313	0.00069	T	0.878412	0.59357	D	0.029206928	0.02378	0.04180595	0.04836	0.029952116	0.02574	0.038357724	0.03687	-7.468	0.57385	T	.	.	0.116	0.48167	B	.;.;.;.	.;.;.;.	0.329006	0.07030	3.593	0.70088412970894232	0.09182	0.02274	0.06564	N	AEFBI	0.637245	0.61609	D	-1.57819578434159	0.01377	0.06001448	-1.62383016018964	0.01517	0.06868153	0.961884908635742	0.28584	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.84	-2.33	0.06340	-0.073000	0.11428	0.441000	0.18425	-1.882000	0.00541	0.000000	0.06391	0.017000	0.20586	0.001000	0.02609	0.235:0.3561:0.4089:0.0	6.607	0.21928	174	0.93268	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	451.98	18	chr16	72056553	.	G	A	451.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.27;DP=507;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=38.42;MQRankSum=1.31;QD=23.79;ReadPosRankSum=0.615;SOR=1.739	GT:AD:DP:GQ:PL	0/0:25,0:25:72:0,72,901	20	0	1	0
chr16	72056628	72056628	G	A	exonic	HP	.	nonsynonymous SNV	HP:NM_001318138:exon3:c.G187A:p.D63N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.061	B	0.018	B	.	.	1.000	D	0.845	L	0.83	T	-1.093	T	0.071	T	0.097	0.448	6.432	1.84	0.349	0.957	6.785	0.030	0.0145613365833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.666	0.30515	T	0.177	0.92824	T	0.013	0.16609	B	0.008	0.13708	B	.	.	.	.	1	0.81001	D	1.81	0.47622	L	0.83	0.47815	T	-0.14	0.15782	N	0.128	0.16447	-1.0927	0.05097	T	0.071	0.28806	T	9	0.15194994	0.28711	T	0.014561	0.34757	T	0.030	0.07022	0.497	0.58678	0.289098819767	0.28531	0.11910103623453867	0.11837	0.236360420895	0.26171	0.543978989124	0.45008	T	0.324881	0.69565	T	-0.244522	0.14778	T	-0.589016	0.13751	T	0.06197302500585	0.07476	T	0.80472	0.45238	T	0.048287988	0.08393	0.048178136	0.07102	0.048287988	0.08392	0.048178136	0.07101	-7.594	0.58269	D	.	.	0.136	0.46745	B	.;.;.;.	.;.;.;.	1.315965	0.17197	13.02	0.69471451485269775	0.08983	0.43100	0.27024	N	AEFGBI	0.828597	0.74766	D	-0.672742401122374	0.16800	0.8591732	-0.597985029352194	0.19545	1.049141	0.744259064020968	0.23260	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.84	1.84	0.24348	1.037000	0.29850	3.140000	0.36479	0.594000	0.32500	0.822000	0.30018	1.000000	0.68203	0.052000	0.15357	0.2895:0.0:0.7105:0.0	6.785	0.22852	174	0.93268	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1111	122.27	10	chr16	72056628	.	G	A	122.27	.	AC=2;AF=0.111;AN=18;BaseQRankSum=0.431;DP=288;ExcessHet=0.1524;FS=0.000;InbreedingCoeff=-0.1750;MLEAC=4;MLEAF=0.222;MQ=38.68;MQRankSum=0.00;QD=3.82;ReadPosRankSum=-3.660e-01;SOR=0.119	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:18,0:18:0:.:.:0,0,23	7	0	2	12
chr16	72056631	72056631	G	A	exonic	HP	.	nonsynonymous SNV	HP:NM_001318138:exon3:c.G190A:p.G64R	.	.	.	.	.	.	.	.	.	0.9976	0.942	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	1.0	D	0.999	D	.	.	1.000	D	2.5	M	0.81	T	-0.670	T	0.283	T	0.768	0.750	7.976	4.84	2.664	4.773	13.650	0.312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.805e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	.	.	.	.	0.857946	0.81001	D	2.955	0.85029	M	0.81	0.48460	T	-0.58	0.83899	N	0.511	0.63204	-0.6699	0.61833	T	0.283	0.65448	T	9	0.66874856	0.70584	D	0.143234	0.82557	D	0.312	0.63375	0.551	0.66716	0.624938293356	0.62188	0.2705249212620448	0.26965	0.288080729046	0.31214	0.703854739666	0.67702	T	0.365288	0.73073	T	0.114526	0.65818	D	-0.0732684	0.65392	T	0.52836860971527	0.33674	D	0.949005	0.80370	D	0.17544976	0.38404	0.20636405	0.44846	0.17544976	0.38404	0.20636405	0.44845	-8.34	0.63364	D	.	.	0.679	0.72087	P	.;.;.;.	.;.;.;.	4.312529	0.65933	24.9	0.77395238562230129	0.11858	0.89573	0.50124	D	AEFBI	0.966484	0.98891	D	0.506739950870263	0.67486	5.088251	0.420222802635425	0.62826	4.504763	0.999481848907043	0.39952	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.84	4.84	0.62125	4.904000	0.62975	11.370000	0.92605	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.066000	0.16387	0.0:0.0:1.0:0.0	13.650	0.61780	174	0.93268	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	260.17	9	chr16	72056631	.	G	A,C	260.17	.	AC=4,1;AF=0.286,0.071;AN=14;BaseQRankSum=-3.190e-01;DP=247;ExcessHet=2.2455;FS=0.000;InbreedingCoeff=-0.2704;MLEAC=8,2;MLEAF=0.571,0.143;MQ=39.10;MQRankSum=0.00;QD=3.61;ReadPosRankSum=1.01;SOR=0.180	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:13,0,0:13:0:.:.:0,0,0,0,0,0	2	0	4	14
chr16	72056631	72056631	G	C	exonic	HP	.	nonsynonymous SNV	HP:NM_001318138:exon3:c.G190C:p.G64R	.	.	.	.	.	.	.	.	.	0.9999	0.886	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	1.0	D	0.999	D	.	.	1.000	D	2.5	M	0.81	T	-0.670	T	0.283	T	0.768	0.630	7.385	4.84	2.664	4.773	13.650	0.312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	.	.	.	.	1	0.81001	D	2.955	0.85029	M	0.81	0.48460	T	-0.58	0.83899	N	0.511	0.63204	-0.6699	0.61833	T	0.283	0.65448	T	9	0.6627866	0.70252	D	.	.	.	0.312	0.63375	0.551	0.66716	0.624938293356	0.62188	0.2705249074910103	0.26965	0.288080729046	0.31214	0.703854739666	0.67702	T	0.365288	0.73073	T	0.114535	0.65818	D	-0.0732555	0.65393	T	0.499475828049257	0.32610	T	0.949005	0.80370	D	0.17544976	0.38404	0.20636405	0.44846	0.17544976	0.38404	0.20636405	0.44845	-8.34	0.63364	D	.	.	0.679	0.72087	P	.;.;.;.	.;.;.;.	4.045414	0.59928	24.2	0.75314754377524518	0.11027	0.91508	0.53678	D	AEFBI	0.967500	0.98997	D	0.506739950870263	0.67486	5.088251	0.420222802635425	0.62826	4.504763	0.999481848907043	0.39952	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.84	4.84	0.62125	4.904000	0.62975	11.370000	0.92605	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.066000	0.16387	0.0:0.0:1.0:0.0	13.650	0.61780	174	0.93268	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	260.17	9	chr16	72056631	.	G	A,C	260.17	.	AC=4,1;AF=0.286,0.071;AN=14;BaseQRankSum=-3.190e-01;DP=247;ExcessHet=2.2455;FS=0.000;InbreedingCoeff=-0.2704;MLEAC=8,2;MLEAF=0.571,0.143;MQ=39.10;MQRankSum=0.00;QD=3.61;ReadPosRankSum=1.01;SOR=0.180	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:13,0,0:13:0:.:.:0,0,0,0,0,0	2	0	4	14
chr16	72056632	72056632	G	A	splicing	HP	NM_005143:exon3:c.190+1G>A;NM_001318138:exon3:c.190+1G>A	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.77	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	0.994	9.059	4.84	2.664	3.259	13.650	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.035e-06	1.404e-06	2.09e-06	0	3.009e-05	0	0	.	.	0	0	0	3.009e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161395	0.70330	D	-0.00594352	0.69950	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.408646	0.68188	25.2	0.96901902273035678	0.31542	0.84171	0.43254	D	AEFBI	.	.	.	0.879231487400687	0.90706	10.52714	0.664537954584481	0.79698	7.137518	0.999481848907043	0.39952	0.074636	0.01641	0	0.084543	0.02171	0	0.060301	0.00762	0	0.058706	0.01089	0	0.957822	0.64339	4.84	4.84	0.62125	3.378000	0.52164	11.370000	0.92605	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.075000	0.16954	0.0:0.0:1.0:0.0	13.650	0.61780	174	0.93268	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	114.53	9	chr16	72056632	.	G	A	114.53	.	AC=2;AF=0.071;AN=28;BaseQRankSum=-2.880e-01;DP=267;ExcessHet=0.1424;FS=0.000;InbreedingCoeff=-0.0002;MLEAC=3;MLEAF=0.107;MQ=39.02;MQRankSum=0.00;QD=3.95;ReadPosRankSum=0.00;SOR=0.142	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:13,0:13:0:.:.:0,0,0	12	0	2	7
chr16	72058352	72058352	G	A	exonic	HP	.	nonsynonymous SNV	HP:NM_001126102:exon3:c.G187A:p.D63N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.112	B	0.082	B	0.004	N	1.000	D	1.79	L	0.83	T	-1.048	T	0.105	T	0.106	1.012	9.135	1.53	0.381	1.849	5.197	0.040	0.0298587628558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.29823	T	0.0	0.92824	D	0.112	0.26290	B	0.082	0.29098	B	0.004157	0.34057	N	0.206543	1	0.81001	D	1.95	0.52479	M	0.83	0.75789	T	-0.5	0.44471	N	0.125	0.20660	-1.0477	0.15045	T	0.105	0.38390	T	10	0.20632797	0.43117	T	0.029859	0.52286	D	0.040	0.10527	0.522	0.62518	0.715866233023	0.71337	0.2170649392134145	0.21622	0.306786513976	0.32982	0.546693384647	0.45390	T	0.25661	0.62754	T	-0.130917	0.31349	T	-0.42583	0.30409	T	0.149168682948608	0.17037	T	0.80282	0.44919	T	0.103845656	0.24546	0.038592916	0.03764	0.103845656	0.24545	0.038592916	0.03763	-3.027	0.57406	T	.	.	0.093	0.45174	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.419185	0.31107	18.64	0.65674445526297798	0.07839	0.54254	0.29571	D	AEFGI	0.586488	0.58451	D	-0.495153232800278	0.22239	1.18607	-0.518309580454449	0.21656	1.172553	0.00190099916649458	0.08984	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.52	1.53	0.22224	1.585000	0.36210	5.889000	0.50737	0.479000	0.22080	0.979000	0.35152	1.000000	0.68203	0.013000	0.09966	0.1782:0.0:0.8218:0.0	5.197	0.14567	173	0.93306	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Serine proteases, trypsin domain|Sushi/SCR/CCP domain;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.08333	45.81	14	chr16	72058352	.	G	A	45.81	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.524;DP=210;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.2547;MLEAC=3;MLEAF=0.250;MQ=37.76;MQRankSum=-8.420e-01;QD=9.16;ReadPosRankSum=0.524;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:19,0:19:0:.:.:0,0,96	5	0	1	15
chr16	72058355	72058355	G	A	exonic	HP	.	nonsynonymous SNV	HP:NM_001126102:exon3:c.G190A:p.G64R	.	.	.	.	.	.	.	.	.	0.9996	0.93	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.991	D	0.002	N	1.000	D	1.79	L	0.81	T	-0.701	T	0.220	T	0.476	0.811	8.259	2.52	1.411	4.262	8.595	0.290	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.799e-06	1.045e-05	3.782e-06	0	9.109e-05	0	0	.	.	9.109e-05	0	0	0	0	0	0	0	0	0	2.587e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	0.001888	0.37740	N	0.174046	0.814036	0.81001	D	2.98	0.85499	M	0.81	0.75553	T	-5.23	0.94096	D	0.596	0.81658	-0.7012	0.60381	T	0.220	0.58345	T	10	0.67646116	0.71020	D	0.142111	0.82450	D	0.290	0.60924	0.578	0.70347	0.821408252841	0.81972	0.7772704559283794	0.77677	0.946889859092	0.72443	0.666904628277	0.62397	T	0.837616	0.96183	D	0.077429	0.61738	D	-0.126555	0.61260	T	0.972004175186157	0.69532	D	0.859214	0.55036	D	0.62041813	0.73785	0.30561212	0.56587	0.62041813	0.73787	0.30561212	0.56586	-7.189	0.66661	T	.	.	0.668	0.86545	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.675451	0.92963	33	0.69442887803910702	0.08974	0.90420	0.51581	D	AEFGI	0.571565	0.57550	D	0.25544686910396	0.53908	3.557914	0.0947002964056155	0.44280	2.712969	0.0165400707588921	0.12842	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.52	2.52	0.29514	3.924000	0.56191	10.890000	0.84090	0.479000	0.22080	0.999000	0.42656	1.000000	0.68203	0.013000	0.09966	0.0:0.0:1.0:0.0	8.595	0.32869	173	0.93306	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Serine proteases, trypsin domain|Sushi/SCR/CCP domain;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1667	48.32	11	chr16	72058355	.	G	A	48.32	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.524;DP=176;ExcessHet=0.2996;FS=0.000;InbreedingCoeff=-0.0497;MLEAC=3;MLEAF=0.250;MQ=39.39;MQRankSum=0.00;QD=2.68;ReadPosRankSum=0.524;SOR=0.255	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:9,4:13:3:.:.:3,0,144	4	0	2	15
chr16	72058356	72058356	G	A	splicing	HP	NM_005143:exon5:c.367+1G>A;NM_001126102:exon3:c.190+1G>A	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.327	10.35	2.52	1.411	2.793	8.595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0327426	0.47017	T	-0.284809	0.46310	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.135331	0.61910	24.4	0.93143775065572054	0.22789	0.66793	0.33202	D	AEFGI	.	.	.	0.598030068298339	0.73050	5.903433	0.295850976269365	0.55297	3.692846	0.0165400707588921	0.12842	0.074636	0.01641	0	0.084543	0.02171	0	0.060301	0.00762	0	0.058706	0.01089	0	0.269773	0.33651	2.52	2.52	0.29514	2.491000	0.44961	9.045000	0.78625	0.479000	0.22080	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.0:0.0:1.0:0.0	8.595	0.32869	173	0.93306	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	43.86	11	chr16	72058356	.	G	A	43.86	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-1.645e+00;DP=193;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.0225;MLEAC=2;MLEAF=0.125;MQ=37.76;MQRankSum=-8.420e-01;QD=8.77;ReadPosRankSum=0.524;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:18,0:18:0:.:.:0,0,220	7	0	1	13
chr16	72787701	72787703	GCC	-	exonic	ZFHX3	.	nonframeshift deletion	ZFHX3:NM_001164766:exon9:c.7831_7833del:p.G2613del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	19724.38	41	chr16	72787694	.	AGCCGCCGCC	A,AGCCGCC,AGCCGCCGCCGCC	19724.38	.	AC=4,1,1;AF=0.095,0.024,0.024;AN=42;BaseQRankSum=0.863;DP=1981;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=4,1,1;MLEAF=0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=21.16;ReadPosRankSum=-6.700e-02;SOR=0.725	GT:AD:DP:GQ:PL	0/0:41,0,0,0:41:99:0,101,1274,101,1274,1274,101,1274,1274,1274	16	0	3	0
chr16	72787703	72787703	-	GCC	exonic	ZFHX3	.	nonframeshift insertion	ZFHX3:NM_001164766:exon9:c.7830_7831insGGC:p.G2613_S2614insG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	19724.38	41	chr16	72787694	.	AGCCGCCGCC	A,AGCCGCC,AGCCGCCGCCGCC	19724.38	.	AC=4,1,1;AF=0.095,0.024,0.024;AN=42;BaseQRankSum=0.863;DP=1981;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=4,1,1;MLEAF=0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=21.16;ReadPosRankSum=-6.700e-02;SOR=0.725	GT:AD:DP:GQ:PL	0/0:41,0,0,0:41:99:0,101,1274,101,1274,1274,101,1274,1274,1274	16	0	3	0
chr16	72787733	72787733	-	GCCACT	exonic	ZFHX3	.	nonframeshift insertion	ZFHX3:NM_001164766:exon9:c.7800_7801insAGTGGC:p.G2600_G2601insSG	.	.	278	1218	19	3	4	29	0.0101585	.	.	3214869	ZFHX3-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.0002	0.0006	0.0001	0.0004	0.0006	0.0072	0.0173	0.0001921	5	26028	rs750444062	0.0009	0.0013	0.0006	0.0012	0.0150	0.0008	0.0008	0.0140	0.0136	0.0002	0.0004	0.0002	0	0.0001	0.0043	0.0003	0.0012	0.0150	0.0009	0.0009	0.0005	0.0012	0.0190	0.0007	0.0007	0.0158	0.0146	7.373e-05	0	0.0003	0.0003	0	0.0001	0	0.0004	0	0.0190	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3026.94	41	chr16	72787733	.	C	CGCCACT	3026.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.930;DP=1168;ExcessHet=0.0000;FS=7.255;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.78;ReadPosRankSum=2.64;SOR=0.784	GT:AD:DP:GQ:PL	0/0:210,0:210:99:0,120,1800	20	0	1	0
chr16	72788017	72788017	T	C	exonic	ZFHX3	.	nonsynonymous SNV	ZFHX3:NM_001164766:exon9:c.A7517G:p.K2506R	.	.	417	1099	6	0	0	6	0.00272232	.	.	797383	not_provided|ZFHX3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.001	B	0.001	B	0.000	D	1.000	D	1.15	L	-2.25	D	-0.430	T	0.376	T	0.126	1.604	11.32	3.18	0.606	4.102	9.791	0.322	.	0.0046	0.00319489	0.0043	0.0008	0.0019	0	0.0045	0.0068	0.0079	0.0002	0.0044437	687	154602	rs117523752	0.0059	0.0059	0.0061	0.0057	0.0070	0.0058	0.0057	0.0068	0.0068	0.0008	0.0033	0.0025	2.52e-05	0.0046	0.0024	0.0070	0.0050	0.0003	0.0042	0.0042	0.0043	0.0041	0.0071	0.0039	0.0038	0.0066	0.0064	0.0010	0	0.0039	0.0017	0	0.0037	0	0.0071	0.0043	0.0004	0.005	0.63226	D	0.187	0.28764	T	0.001	0.07471	B	0.001	0.04355	B	0.000102	0.50451	D	0.000000	0.999919	0.51042	D	1.87	0.49600	L	-2.25	0.87272	D	-1.15	0.31778	N	0.125	0.11769	-0.4299	0.71070	T	0.376	0.73408	T	10	0.007080674	0.00161	T	.	.	.	0.322	0.64420	.	.	0.128874641272	0.12493	0.07071591449322331	0.07008	0.0763688091822	0.08569	0.541627585888	0.44676	T	0.102888	0.41104	T	-0.393312	0.02561	T	-0.333317	0.41098	T	0.0323492388846104	0.02364	T	0.739826	0.35853	T	0.11991955	0.28228	0.18092273	0.40922	0.11682754	0.27551	0.15798837	0.36915	-5.078	0.37674	T	.	.	0.093	0.14108	B	.;.;.	.;.;.	3.682670	0.52423	23.2	0.89794482354043625	0.19107	0.89509	0.50019	D	AEFDGBCI	.	.	.	-0.224417341581947	0.32133	1.809018	-0.0942826417267529	0.35627	2.063385	0.999999800353153	0.74766	0.493124	0.18060	0	0.587265	0.34161	0	0.503968	0.08637	0	0.627883	0.49187	0	.	.	4.3	3.18	0.35615	4.985000	0.63570	4.953000	0.46294	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0852:0.0:0.9148	9.791	0.39875	191	0.92559	.;.;.	.	.	.	.	rs117523752	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	2472.98	41	chr16	72788017	.	T	C	2472.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.920e-01;DP=1055;ExcessHet=0.0000;FS=2.171;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.85;ReadPosRankSum=0.935;SOR=0.864	GT:AD:DP:GQ:PL	0/1:146,105:251:99:2487,0,3831	20	0	1	0
chr16	72788670	72788670	-	TGC	exonic	ZFHX3	.	nonframeshift insertion	ZFHX3:NM_001164766:exon9:c.6863_6864insGCA:p.Q2290_P2291insQ	.	.	0	197	5	0	24	29	0.0125313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2820.05	41	chr16	72788664	.	TTGCTGC	TTGCTGCTGC,T	2820.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.87;DP=984;ExcessHet=0.1072;FS=1.793;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=14.69;ReadPosRankSum=-2.800e-02;SOR=0.573	GT:AD:DP:GQ:PL	0/0:42,0,0:42:99:0,105,1575,105,1575,1575	19	0	1	0
chr16	72957835	72957835	C	T	exonic	ZFHX3	.	nonsynonymous SNV	ZFHX3:NM_006885:exon2:c.G2311A:p.G771R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.963	D	0.002	U	1.000	D	1.1	L	-0.73	T	-0.199	T	0.439	T	0.75	2.576	14.57	5.77	2.724	7.573	19.998	0.352	0.0657006717323	.	.	3.52e-05	0	0	0	0	4.86e-05	0	6.079e-05	3.23e-05	5	154602	rs746690503	1.643e-05	1.71e-05	1.362e-05	1.927e-05	2.522e-05	1.112e-05	9.34e-06	1.175e-05	9.55e-06	0	0	0	2.522e-05	0	0	1.799e-05	3.317e-05	1.16e-05	1.972e-05	2.627e-05	1.285e-05	2.691e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.412e-05	0	0	0	0	0	0	2.94e-05	0	0	0.041	0.41915	D	0.069	0.43913	T	1.0	0.90584	D	0.963	0.70837	D	0.002056	0.37364	U	0.000000	1	0.81001	D	1.61	0.41143	L	-0.73	0.73100	T	-1.91	0.44471	N	0.605	0.62273	-0.1993	0.77689	T	0.439	0.77790	T	10	0.7589694	0.76199	D	0.065701	0.69658	D	0.352	0.67326	0.397	0.42426	0.134007934775	0.12933	0.5679313975537079	0.56721	0.486458548763	0.47507	0.749977231026	0.74443	T	0.122524	0.44626	T	0.0919486	0.63408	D	-0.00506861	0.70007	D	0.590653717517853	0.36032	D	0.757524	0.38090	T	0.107928604	0.25519	0.17191213	0.39408	0.107928604	0.25519	0.17191213	0.39407	-6.971	0.53822	T	.	.	0.740	0.74608	P	.;.	.;.	4.259169	0.64710	24.7	0.99678274904151398	0.79043	0.99793	0.99505	D	AEFDBIJ	0.936855	0.93377	D	0.670752138140934	0.77716	6.728652	0.691650556579473	0.81744	7.598977	0.999999999999998	0.74766	0.580535	0.33130	0	0.54472	0.11627	0	0.576033	0.28219	0	0.714379	0.83352	0	.	.	5.77	5.77	0.91077	7.658000	0.82741	4.803000	0.44983	0.596000	0.33519	1.000000	0.71638	0.998000	0.33993	0.135000	0.19760	0.0:1.0:0.0:0.0	19.998	0.97395	670	0.60992	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2450.98	123	chr16	72957835	.	C	T	2450.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.93;DP=2272;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.68;ReadPosRankSum=-1.030e-01;SOR=0.736	GT:AD:DP:GQ:PL	0/0:117,0:117:99:0,120,1800	20	0	1	0
chr16	72958393	72958393	C	T	exonic	ZFHX3	.	nonsynonymous SNV	ZFHX3:NM_006885:exon2:c.G1753A:p.G585S,	.	.	406	1108	8	0	0	8	0.00359712	.	.	703806	not_provided|ZFHX3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.75	T	0.435	B	0.033	B	0.004	U	1.000	D	0.46	N	-0.68	T	-1.047	T	0.059	T	0.049	0.478	6.597	2.24	1.082	0.361	4.544	0.109	.	0.0055	0.00279553	0.0050	0.0013	0.0042	0.0002	0.0032	0.0075	0.0044	0.0015	0.0051681	799	154602	rs140602496	0.0073	0.0073	0.0075	0.0071	0.0086	0.0072	0.0071	0.0085	0.0084	0.0018	0.0050	0.0037	0.0006	0.0027	0.0061	0.0086	0.0063	0.0019	0.0057	0.0057	0.0059	0.0055	0.0090	0.0054	0.0053	0.0078	0.0076	0.0019	0.0197	0.0090	0.0043	0.0006	0.0023	0.0102	0.0084	0.0071	0.0017	0.184	0.21634	T	0.135	0.34124	T	0.435	0.35719	B	0.033	0.22329	B	0.003924	0.34318	U	0.125647	1	0.81001	D	0	0.06538	N	-0.68	0.72568	T	-2.64	0.56630	D	0.057	0.02861	-1.0469	0.15274	T	0.059	0.24797	T	10	0.005561143	0.00123	T	.	.	.	0.109	0.30843	.	.	0.168254554758	0.16434	0.14644547704557218	0.14566	0.098428705568	0.11118	0.430646389723	0.29296	T	0.157218	0.49972	T	-0.53252	0.00371	T	-0.531731	0.19113	T	0.0219211856123054	0.00900	T	0.739226	0.35772	T	0.17965277	0.39047	0.20152593	0.44137	0.17468925	0.38286	0.20152593	0.44136	-3.608	0.17973	T	.	.	0.06	0.00934	B	.;.	.;.	1.668129	0.21268	15.13	0.90663380592635134	0.19914	0.78058	0.38457	D	AEFDBI	0.181590	0.30891	N	-0.370663511836729	0.26519	1.447959	-0.235119152174631	0.30287	1.704002	0.999368011576583	0.39301	0.562547	0.31514	0	0.653731	0.59785	0	0.578056	0.29568	0	0.635551	0.53088	0	.	.	4.65	2.24	0.27264	0.937000	0.28549	0.469000	0.18693	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	1.000000	0.97212	0.0:0.5364:0.1847:0.2788	4.544	0.11473	668	0.61153	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	2025.98	42	chr16	72958393	.	C	T	2025.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=1417;ExcessHet=0.0000;FS=0.575;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=0.040;SOR=0.760	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1337	20	0	1	0
chr16	74377984	74377984	G	A	exonic	NPIPB15	.	nonsynonymous SNV	NPIPB15:NM_001306094:exon1:c.G11A:p.R4H,	.	.	492	1029	1	0	0	1	0.000485673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	0	N	0.63	T	-1.014	T	0.064	T	0.135	0.520	6.815	.	0.064	0.064	.	0.021	0.00269417765529	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1390034264	0.0005	0.0006	0.0005	0.0005	0.0006	0.0005	0.0004	0.0005	0.0005	0.0001	0.0003	0	0	0.0002	0.0002	0.0006	0.0007	7.108e-05	0.0002	0.0003	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	7.243e-05	0	0.0003	0	0	9.538e-05	0	0.0004	0.0005	0	0.0	0.91255	D	0.019	0.59159	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.63	0.53088	T	-0.88	0.23808	N	0.104	0.08786	-1.0145	0.25497	T	0.064	0.26632	T	5	0.07224956	0.10759	T	0.002694	0.05521	T	0.021	0.04004	.	.	0.126345400529	0.12197	0.1487937413843244	0.14801	0.266911278005	0.29225	.	.	.	0.019646	0.15616	T	-0.47993	0.00740	T	-0.54015	0.18283	T	0.0244058587554979	0.01196	T	0.381662	0.09243	T	0.06450573	0.13693	0.11788488	0.28456	0.06450573	0.13693	0.11788488	0.28455	-4.038	0.24370	T	.	.	0.343	0.56138	A	.	.	1.355201	0.17631	13.28	0.92694107907948253	0.22184	0.00293	0.01568	N	AEFBI	0.037401	0.05139	N	-0.888973624361404	0.11104	0.5340776	-1.06869483236523	0.08322	0.4086684	2.64181139278013E-5	0.03498	0.581397	0.33459	0	0.78372	0.99691	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	.	.	.	0.064000	0.14310	0.222000	0.16086	0.061000	0.17545	0.116000	0.23103	0.000000	0.08366	0.116000	0.19000	.	.	.	687	0.59234	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	394.98	33	chr16	74377984	.	G	A	394.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.040e-01;DP=766;ExcessHet=0.0000;FS=2.189;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=42.88;MQRankSum=0.956;QD=5.20;ReadPosRankSum=-8.260e-01;SOR=0.427	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1104	20	0	1	0
chr16	74391608	74391608	T	C	exonic	NPIPB15	.	nonsynonymous SNV	NPIPB15:NM_001306094:exon7:c.T860C:p.L287P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.839	P	0.425	B	.	.	1.000	N	1.32	L	0.61	T	-1.045	T	0.104	T	0.382	0.783	8.133	.	.	.	.	0.128	0.00754264918495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.18823	T	0.048	0.48594	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.61	0.53516	T	-2.09	0.47683	N	0.145	0.14622	-1.0447	0.15913	T	0.104	0.38218	T	6	0.16688624	0.31152	T	0.007543	0.20006	T	0.128	0.35103	.	.	0.387529464389	0.38369	0.03502445033397926	0.03449	0.301973635816	0.32530	.	.	.	0.014374	0.12250	T	-0.109147	0.34909	T	-0.394559	0.34019	T	0.233433318103362	0.22113	T	0.364564	0.08467	T	0.23030882	0.45784	0.29830965	0.55864	0.23030882	0.45784	0.29830965	0.55863	-5.73	0.43959	T	.	.	0.131	0.28057	B	.	.	1.264659	0.16625	12.66	0.94548373748204717	0.25062	0.00102	0.00658	N	AEFBI	0.067025	0.13154	N	-0.211078100539261	0.32679	1.845564	-0.339748845341845	0.26828	1.484429	3.97398773027671E-5	0.03775	0.693126	0.56070	0	0.659464	0.62310	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	.	.	.	.	.	-1.229000	0.05965	.	.	.	.	0.000000	0.08366	.	.	.	.	.	699	0.57969	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1846.02	350	chr16	74391608	.	T	C	1846.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.820e-01;DP=6728;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.024;MQ=58.14;MQRankSum=1.62;QD=4.69;ReadPosRankSum=1.32;SOR=0.715	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:421,0:421:99:.:.:0,120,1800	20	0	1	0
chr16	74411019	74411019	-	C	exonic	CLEC18B	.	frameshift insertion	CLEC18B:NM_001385195:exon8:c.759dupG:p.L254Afs*28	.	.	439	1072	11	0	0	11	0.00510441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0009	0.0001	9.259e-05	0	0	0.0003	0.0036	0.0051	0.0001537	4	26028	rs529381474	0.0003	0.0006	0.0003	0.0004	0.0049	0.0003	0.0003	0.0032	0.0027	2.996e-05	0.0002	0	0	0	0.0049	0.0001	0.0008	0.0031	9.858e-05	0.0003	0.0001	9.408e-05	0.0013	6.008e-05	4.881e-05	0.0005	0.0004	2.406e-05	0	0.0001	0	0	0	0	8.831e-05	0	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	799.94	34	chr16	74411019	.	G	GC	799.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.169e+00;DP=803;ExcessHet=0.0000;FS=2.886;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=38.33;MQRankSum=-5.950e-01;QD=20.00;ReadPosRankSum=0.741;SOR=0.719	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,117,1407	20	0	1	0
chr16	74888296	74888296	C	T	exonic	WDR59	.	nonsynonymous SNV	WDR59:NM_030581:exon22:c.G2219A:p.R740Q,	.	.	433	1073	16	0	0	16	0.00740056	.	.	3356294	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.64	T	0.709	P	0.124	B	0.000	D	0.653	D	0.55	N	-0.27	T	-0.856	T	0.115	T	0.244	2.493	14.30	6.02	2.865	4.448	7.915	0.153	0.0127899907899	.	.	0.0002	0	0	0	0	6.338e-05	0	0.0011	0.0001488	23	154602	rs767371477	0.0001	0.0001	8.306e-05	0.0001	0.0021	0.0001	9.636e-05	0.0012	0.0010	2.989e-05	4.483e-05	7.653e-05	2.52e-05	0	0.0021	2.968e-05	0.0002	0.0013	3.947e-05	3.941e-05	3.858e-05	4.04e-05	0.0004	1.717e-05	1.13e-05	7.307e-05	3.035e-05	2.416e-05	0	0.0002	0	0	0	0	0	0	0.0004	0.399	0.10517	T	0.307	0.19908	T	0.355	0.33731	B	0.04	0.23831	B	0.000048	0.53742	D	0.164396	0.653184	0.32983	D	0.55	0.14455	N	-0.27	0.67367	T	-0.3	0.11913	N	0.301	0.34012	-0.8564	0.51520	T	0.115	0.40897	T	10	0.059230745	0.07087	T	0.01279	0.31668	T	0.153	0.40148	0.446	0.50466	0.845841685244	0.84436	0.1801451814062501	0.17933	0.277714302486	0.30255	0.478825569153	0.35895	T	0.022535	0.17359	T	-0.372965	0.03447	T	-0.349048	0.39314	T	0.080439621564902	0.10044	T	0.957904	0.84151	D	0.038109887	0.05015	0.034834333	0.02622	0.038109887	0.05015	0.034834333	0.02621	-3.125	0.11586	T	.	.	0.091	0.12985	B	.	.	3.968162	0.58246	24.0	0.99493450116431026	0.67573	0.92662	0.56241	D	AEFDBI	0.404737	0.47790	N	0.0823313918181039	0.45639	2.817132	0.279454450133582	0.54340	3.599407	0.999999999233427	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.02	6.02	0.97559	4.474000	0.59936	6.003000	0.52520	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.741000	0.35472	0.0:0.8146:0.0:0.1854	7.915	0.28977	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	900.98	35	chr16	74888296	.	C	T	900.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.250e+00;DP=853;ExcessHet=0.0000;FS=0.879;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=1.57;SOR=0.883	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,104,1408	20	0	1	0
chr16	74999927	74999927	C	G	exonic	ZNRF1	.	nonsynonymous SNV	ZNRF1:NM_032268:exon1:c.C256G:p.P86A,	.	.	411	1092	19	0	0	19	0.0086246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.988	D	0.908	P	0.004	N	1.000	D	0	N	.	.	-0.712	T	0.169	T	0.49	2.623	14.73	4.82	2.645	5.718	17.013	0.112	.	0.0007	0.00259585	0.0084	0	0.0041	0	0.0541	0.0043	0.0063	0.0146	0.0018758	290	154602	rs112370673	0.0020	0.0020	0.0018	0.0023	0.0107	0.0020	0.0019	0.0101	0.0098	0.0002	0.0006	0.0013	0	0.0022	0.0060	0.0016	0.0020	0.0107	0.0014	0.0014	0.0012	0.0015	0.0116	0.0012	0.0011	0.0092	0.0083	0.0004	0	0.0008	0.0009	0.0002	0.0019	0.0068	0.0014	0.0014	0.0116	0.013	0.54683	D	0.929	0.13103	T	0.98	0.59353	D	0.811	0.58656	P	0.004346	0.33837	N	0.238952	0.982402	0.39888	D	0.69	0.16971	N	.	.	.	-1.18	0.36787	N	0.311	0.42149	-0.7115	0.59879	T	0.169	0.50939	T	9	0.005193025	0.00113	T	.	.	.	0.112	0.31546	.	.	0.128874641272	0.12493	0.44317445975474395	0.44235	0.618583360851	0.56246	0.680616140366	0.64357	T	0.009138	0.08339	T	-0.294774	0.09162	T	-0.186804	0.55889	T	0.0412968066536565	0.03925	T	0.739826	0.36767	T	0.102306746	0.24172	0.0729915	0.15810	0.102306746	0.24172	0.0729915	0.15809	-2.421	0.05263	T	.	.	0.051	0.01290	B	.;.;.;.	.;.;.;.	3.785883	0.54463	23.5	0.98515267012984697	0.42398	0.88716	0.48777	D	AEFDBHCI	0.631225	0.61228	D	0.284316375642299	0.55352	3.699438	0.391905685816939	0.61063	4.301575	0.999999999999872	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.594344	0.31042	0	0.621717	0.48901	0	.	.	4.82	4.82	0.61641	5.750000	0.68350	7.408000	0.58623	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:1.0:0.0:0.0	17.013	0.86285	827	0.39843	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	572.98	41	chr16	74999927	.	C	G	572.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.890e-01;DP=811;ExcessHet=0.0000;FS=6.798;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.55;ReadPosRankSum=0.573;SOR=0.520	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1506	20	0	1	0
chr16	75166821	75166821	G	C	exonic	ZFP1	.	nonsynonymous SNV	ZFP1:NM_001318469:exon3:c.G67C:p.E23Q	.	.	418	1088	16	0	0	16	0.00729927	.	.	2817811	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.62	T	0.113	B	0.047	B	0.000	D	1.000	D	-1.3	N	4.56	T	-0.810	T	0.002	T	0.38	-0.049	3.762	3.49	2.254	2.002	13.288	0.095	0.00491419504776	0.0027	0.00179712	0.0034	0.0003	0.0024	0	0.0023	0.0046	0.0044	0.0035	0.0034346	531	154602	rs144244672	0.0033	0.0033	0.0031	0.0035	0.0224	0.0032	0.0032	0.0192	0.0180	0.0012	0.0022	0.0065	0	0.0020	0.0224	0.0035	0.0035	0.0027	0.0027	0.0027	0.0028	0.0026	0.0038	0.0025	0.0024	0.0034	0.0033	0.0007	0.0363	0.0015	0.0066	0	0.0024	0.0102	0.0038	0.0038	0.0015	1.0	0.00964	T	1.0	0.01155	T	0.113	0.26349	B	0.047	0.24832	B	0.000331	0.45700	D	0.000000	0.817792	0.81001	D	-0.735	0.01762	N	4.56	0.01933	T	1.1	0.01229	N	0.47	0.50778	-0.8104	0.54526	T	0.002	0.00676	T	10	0.00496307	0.00106	T	0.004914	0.12349	T	0.095	0.27398	.	.	0.128392430309	0.12331	0.19432268172277734	0.19350	.	.	0.472400009632	0.35010	T	0.037296	0.24423	T	-0.51048	0.00499	T	-0.506566	0.21668	T	0.0156920112932303	0.00362	T	.	.	.	0.12471209	0.29253	0.09485437	0.22470	0.12471209	0.29253	0.09485437	0.22469	-2.146	0.03787	T	.	.	0.162	0.35788	B	.;.;.;.	.;.;.;.	2.714677	0.35491	19.91	0.10846595160779186	0.00147	0.96381	0.68860	D	AEFBI	0.214358	0.33983	N	-0.526837880701103	0.21215	1.124292	-0.299598914913492	0.28112	1.564871	0.998556352403325	0.37186	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.49	3.49	0.39065	2.300000	0.43280	6.032000	0.52931	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	13.288	0.59690	788	0.46569	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1417.98	41	chr16	75166821	.	G	C	1417.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.97;DP=797;ExcessHet=0.0000;FS=3.962;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.58;ReadPosRankSum=1.40;SOR=0.762	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1315	20	0	1	0
chr16	75235394	75235394	T	C	exonic	BCAR1	.	nonsynonymous SNV	BCAR1:NM_001170721:exon4:c.A875G:p.Q292R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.098	B	0.176	B	0.261	N	1.000	N	0.895	L	1.94	T	-0.976	T	0.034	T	0.263	0.576	7.113	-0.432	0.101	0.895	6.053	0.024	0.0177463167799	.	.	.	.	.	.	.	.	.	.	.	.	.	rs919436260	1.444e-05	1.573e-05	1.094e-05	1.796e-05	0.0002	9.28e-06	7.87e-06	1.584e-05	9.3e-06	5.981e-05	0	0	0	0	0.0002	1.261e-05	0	4.643e-05	3.285e-05	3.283e-05	2.569e-05	4.034e-05	0.0001	1.261e-05	7.98e-06	4.737e-05	3.052e-05	0.0001	0	0	0	0	0	0	0	0	0	0.088	0.39097	T	0.261	0.28391	T	0.04	0.21238	B	0.113	0.31689	B	0.261375	0.15308	N	0.621864	1	0.08975	N	1.845	0.48678	L	1.94	0.22678	T	-0.86	0.23372	N	0.108	0.17966	-0.9756	0.35993	T	0.034	0.14683	T	10	0.11083123	0.20731	T	0.017746	0.39570	T	0.024	0.04979	0.37	0.38013	0.46046632392	0.45672	0.07231259708407159	0.07168	0.102785946879	0.11632	0.397231191397	0.24683	T	0.029225	0.20989	T	-0.182562	0.23355	T	-0.500014	0.22347	T	0.036411021833441	0.03053	T	0.751425	0.37327	T	0.084145814	0.19464	0.10023512	0.23959	0.084145814	0.19464	0.10023512	0.23958	-3.6	0.23878	T	.	.	0.061	0.01834	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.409095	0.18239	13.63	0.91295221026935247	0.20555	0.31405	0.24329	N	AEFGBCI	0.158865	0.28458	N	-0.811120224714329	0.13026	0.6388615	-0.809842031670497	0.14258	0.7440392	0.999905005550572	0.45458	0.67177	0.52595	0	0.577304	0.33150	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.11	-0.432	0.11678	0.989000	0.29229	0.259000	0.16521	0.595000	0.32841	0.733000	0.28953	0.545000	0.25436	0.205000	0.22041	0.1391:0.0:0.3684:0.4925	6.053	0.19022	824	0.40336	.;Serine rich protein interaction domain;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1484.98	52	chr16	75235394	.	T	C	1484.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.891e+00;DP=1784;ExcessHet=0.0000;FS=0.626;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.38;ReadPosRankSum=0.010;SOR=0.606	GT:AD:DP:GQ:PL	0/0:79,0:79:99:0,120,1800	20	0	1	0
chr16	75414590	75414590	C	T	exonic	CFDP1	.	nonsynonymous SNV	CFDP1:NM_006324:exon2:c.G170A:p.S57N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.003	B	0.001	B	0.234	N	0.997	N	1.59	L	0.92	T	-1.042	T	0.106	T	0.131	4.170	21.6	5.64	2.658	2.103	15.216	0.095	0.00761520582534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.455	0.39820	T	0.226	0.25438	T	0.003	0.11197	B	0.001	0.04355	B	0.233843	0.15860	N	0.673458	0.996543	0.22981	N	1.95	0.52479	M	0.92	0.44461	T	-0.63	0.34795	N	0.19	0.20793	-1.0416	0.16830	T	0.106	0.38636	T	10	0.14283314	0.27125	T	0.007615	0.20192	T	0.095	0.27398	0.157	0.06070	0.629112818682	0.62608	0.02188016319116512	0.02140	0.0131043289129	0.01263	0.479553222656	0.35995	T	0.036751	0.24220	T	-0.229881	0.16666	T	-0.567985	0.15635	T	0.479482755643933	0.31878	T	0.562144	0.19863	T	0.11928983	0.28089	0.078210615	0.17497	0.11928983	0.28089	0.078210615	0.17497	-3.813	0.20999	T	.	.	0.064	0.17189	B	.;.;.	.;.;.	2.067376	0.26289	17.07	0.9942059769889221	0.63742	0.67476	0.33447	D	AEFBI	0.266404	0.38333	N	-0.0348032291430037	0.40283	2.389696	0.154357485495578	0.47373	2.968535	0.999999663528292	0.74766	0.736574	0.97449	0	0.709663	0.81188	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.64	5.64	0.86480	2.160000	0.41975	0.180000	0.15620	0.599000	0.40250	1.000000	0.71638	0.965000	0.29475	0.997000	0.79791	0.0:1.0:0.0:0.0	15.216	0.72954	635	0.64580	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1111	191.42	45	chr16	75414590	.	C	T	191.42	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-1.369e+00;DP=983;ExcessHet=0.6776;FS=179.431;InbreedingCoeff=-0.1639;MLEAC=5;MLEAF=0.139;MQ=59.99;MQRankSum=0.00;QD=0.87;ReadPosRankSum=-9.360e-01;SOR=8.688	GT:AD:DP:GQ:PL	0/0:58,0:58:67:0,67,911	14	0	4	3
chr16	75478747	75478747	A	G	exonic	CHST6	.	nonsynonymous SNV	CHST6:NM_021615:exon3:c.T1082C:p.V361A,	Macular corneal dystrophy, Autosomal recessive	.	0	1518	4	0	0	4	0.00131579	.	.	336148	Macular_corneal_dystrophy|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800,Orphanet:98969|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.022	B	0.091	B	0.000	D	0.998	D	1.475	L	-4.23	D	0.615	D	0.837	D	0.492	1.602	11.31	4.8	1.800	9.227	12.278	0.563	0.18566196721	7.7e-05	.	0.0001	0	8.664e-05	0	0	0.0002	0	6.058e-05	0.0001164	18	154602	rs150880663	7.802e-05	7.798e-05	6.265e-05	9.355e-05	0.0021	6.603e-05	6.145e-05	0.0012	0.0009	0	2.236e-05	0.0002	0	0	0.0021	6.745e-05	0.0002	8.115e-05	9.843e-05	9.842e-05	7.706e-05	0.0001	0.0001	5.999e-05	4.874e-05	7.908e-05	5.994e-05	0	0	0	0.0006	0	0	0.0102	0.0001	0	0	0.02	0.49613	D	0.153	0.32144	T	0.022	0.18677	B	0.091	0.29943	B	0.000183	0.48115	D	0.139699	0.998029	0.44427	D	2.3	0.65703	M	-4.23	0.97006	D	-2.68	0.57275	D	0.416	0.60325	0.615	0.92095	D	0.837	0.94543	D	10	0.4620647	0.59345	T	0.185662	0.85826	D	0.563	0.82118	.	.	0.969413134417	0.96908	0.661056393129763	0.66042	0.421419213476	0.42649	0.412125349045	0.26750	T	0.494882	0.81784	T	0.0162424	0.53872	T	0.0756977	0.75291	D	0.192094092109133	0.19967	T	0.854615	0.54143	D	0.16285852	0.36390	0.16857491	0.38827	0.16285852	0.36390	0.16857491	0.38826	-5.937	0.45749	T	0.29788985901236537	0.39504	0.206	0.43227	B	.;.;.	.;.;.	2.500999	0.32287	19.00	0.87655258637618239	0.17384	0.99233	0.93193	D	AEFDBI	0.848176	0.76501	D	-0.129899069803699	0.36094	2.081783	-0.0568657446734757	0.37195	2.174518	0.999999999680264	0.74766	0.787689	0.99735	0	0.588066	0.40923	0	0.0	0.00061	3	0.542086	0.14980	0	.	.	4.8	4.8	0.61157	9.214000	0.94249	11.174000	0.88071	0.567000	0.28720	0.996000	0.39380	1.000000	0.68203	0.017000	0.10941	1.0:0.0:0.0:0.0	12.278	0.54067	657	0.62240	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1534.98	36	chr16	75478747	.	A	G	1534.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.085e+00;DP=891;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=-1.120e-01;SOR=0.740	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1153	20	0	1	0
chr16	75478823	75478823	C	T	exonic	CHST6	.	nonsynonymous SNV	CHST6:NM_021615:exon3:c.G1006A:p.A336T,	Macular corneal dystrophy, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	1556609	Macular_corneal_dystrophy	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800,Orphanet:98969	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.62	T	0.0	B	0.004	B	0.055	N	1.000	N	0.2	N	-1.55	D	-0.930	T	0.118	T	0.052	-0.625	1.227	-3.69	-1.166	-1.243	5.882	0.090	0.01802706084	0.0020	0.00159744	0.0006	0.0068	0.0002	0	0	0	0	0	0.0005175	80	154602	rs79173362	0.0002	0.0002	0.0002	0.0002	0.0079	0.0002	0.0002	0.0071	0.0068	0.0079	0.0003	0	0	0	0.0002	0	0.0005	0	0.0019	0.0019	0.0018	0.0021	0.0068	0.0018	0.0017	0.0062	0.0059	0.0068	0	0.0007	0	0	0	0	0	0.0009	0	0.888	0.02495	T	0.785	0.04260	T	0.0	0.02946	B	0.004	0.10090	B	0.055044	0.22673	N	0.477990	1	0.08975	N	0.215	0.09537	N	-1.55	0.81727	D	-0.07	0.08033	N	0.032	0.06587	-0.9297	0.44183	T	0.118	0.41516	T	10	0.0050878823	0.00110	T	0.018027	0.39953	T	0.090	0.26093	.	.	0.516381326315	0.51281	0.4260806261568185	0.42525	0.314280072756	0.33708	0.301735401154	0.10659	T	0.383072	0.74501	T	-0.542346	0.00324	T	-0.547953	0.17522	T	0.00447365236315178	0.00048	T	0.145085	0.01183	T	0.031774037	0.03079	0.051874332	0.08436	0.031774037	0.03079	0.051874332	0.08436	-5.809	0.44653	T	0.12179778672738716	0.11598	0.067	0.02548	B	.;.;.	.;.;.	-0.070713	0.03818	0.814	0.91762451250639243	0.21064	0.01241	0.04378	N	AEFDGBI	0.070561	0.14012	N	-1.48790777521289	0.01934	0.0849303	-1.455349714054	0.02722	0.1257179	0.99993776965456	0.46732	0.787689	0.99735	0	0.588066	0.40923	0	0.0	0.00061	3	0.586402	0.36253	0	.	.	4.9	-3.69	0.04162	-1.225000	0.03066	-2.136000	0.04160	-0.445000	0.05159	0.000000	0.06391	0.000000	0.08366	0.951000	0.49849	0.1225:0.4111:0.0:0.4664	5.882	0.18105	657	0.62240	Sulfotransferase domain;Sulfotransferase domain;Sulfotransferase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2569.98	36	chr16	75478823	.	C	T	2569.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.955e+00;DP=945;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=-1.667e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1153	20	0	1	0
chr16	75478836	75478836	C	A	exonic	CHST6	.	nonsynonymous SNV	CHST6:NM_021615:exon3:c.G993T:p.Q331H,	Macular corneal dystrophy, Autosomal recessive	.	0	1495	27	0	0	27	0.00894929	.	.	193668	not_specified|Macular_corneal_dystrophy	MedGen:CN169374|MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800,Orphanet:98969	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.29	T	1.0	D	0.996	D	0.001	D	1.000	D	2.005	M	-6.62	D	1.090	D	0.984	D	0.436	3.976	20.4	4.9	2.278	4.743	15.563	0.620	.	0.0012	0.00319489	0.0042	0.0003	0.0006	0	0.0002	0.0014	0.0067	0.0239	0.0034993	541	154602	rs140699573	0.0024	0.0024	0.0016	0.0032	0.0261	0.0023	0.0023	0.0252	0.0249	0.0004	0.0006	0.0103	0	7.586e-05	0.0057	0.0007	0.0025	0.0261	0.0016	0.0016	0.0013	0.0020	0.0213	0.0015	0.0014	0.0180	0.0167	0.0002	0	0.0031	0.0078	0.0002	0	0.0034	0.0008	0.0028	0.0213	0.002	0.72154	D	0.087	0.40747	T	1.0	0.90584	D	0.996	0.84481	D	0.000531	0.43581	D	0.203184	0.999671	0.48205	D	2.25	0.63811	M	-6.62	0.99745	D	-3.09	0.63438	D	0.511	0.70527	1.090	0.99251	D	0.984	0.99498	D	10	0.011656791	0.00254	T	.	.	.	0.620	0.85249	0.48	0.55983	0.998818162847	0.99880	0.6734239388447089	0.67280	0.881255799373	0.69779	0.641511797905	0.58779	T	0.76605	0.93701	D	-0.116344	0.33724	T	0.0790272	0.75513	D	0.0266110235997233	0.01490	T	0.960204	0.84976	D	0.6321353	0.74412	0.6138076	0.77525	0.7305861	0.79758	0.631946	0.78527	-8.366	0.63538	D	0.44799476497747936	0.53232	0.444	0.61887	A	.;.;.	.;.;.	3.976525	0.58430	24.0	0.99673370606959577	0.78717	0.97880	0.77824	D	AEFGBI	0.741657	0.68552	D	0.620941588707204	0.74502	6.143385	0.594727862667393	0.74561	6.157997	0.99999996070518	0.74766	0.718356	0.82227	0	0.633656	0.55848	0	0.570548	0.19454	0	0.586402	0.36253	0	.	.	4.9	4.9	0.63643	4.818000	0.62347	1.802000	0.28890	0.454000	0.21428	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	15.563	0.76007	657	0.62240	Sulfotransferase domain;Sulfotransferase domain;Sulfotransferase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2506.98	36	chr16	75478836	.	C	A	2506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.664e+00;DP=915;ExcessHet=0.0000;FS=4.753;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.77;ReadPosRankSum=-5.440e-01;SOR=0.752	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1153	20	0	1	0
chr16	75542650	75542650	A	G	exonic	TMEM231	.	nonsynonymous SNV	TMEM231:NM_001077416:exon4:c.T775C:p.Y259H	Joubert syndrome 20, Autosomal recessive;Meckel syndrome 11, Autosomal recessive	.	9	1512	1	0	0	1	0.000330579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.002	B	0.003	B	0.142	N	1.000	N	-0.69	N	0.02	T	-1.044	T	0.058	T	0.208	0.438	6.381	-8.67	-1.128	0.226	7.275	0.077	0.00930066915393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.519	0.07283	T	0.546	0.25907	T	0.0	0.02946	B	0.002	0.06944	B	0.142240	0.18251	N	0.566652	1	0.08975	N	0.41	0.12415	N	0.02	0.62318	T	0.27	0.05125	N	0.21	0.28732	-1.0444	0.16000	T	0.058	0.24204	T	10	0.042634726	0.03032	T	0.009301	0.24413	T	0.077	0.22490	0.323	0.30387	0.0482279557977	0.04254	0.29029735877342827	0.28942	0.00761782121256	0.00674	0.230882018805	0.02034	T	0.046112	0.45611	T	-0.1741	0.24618	T	-0.487859	0.23615	T	0.0245543277273457	0.01215	T	0.483452	0.14697	T	0.01613509	0.00178	0.024653863	0.00489	0.01613509	0.00178	0.024653863	0.00489	-5.011	0.45212	T	0.099393632916616	0.07214	0.075	0.08368	B	.;.;.	.;.;.	0.330307	0.07045	3.607	0.69197749075108883	0.08896	0.02456	0.06904	N	AEFGBI	0.063538	0.12286	N	-1.44199003877588	0.02281	0.1005307	-1.50412501995632	0.02312	0.1061445	0.976612243498262	0.29742	0.706548	0.73137	0	0.653731	0.59785	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	4.33	-8.67	0.00748	0.237000	0.17763	-0.402000	0.09404	0.691000	0.84096	0.002000	0.15269	0.000000	0.08366	0.213000	0.22268	0.137:0.0:0.5297:0.3333	7.275	0.25455	706	0.57215	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	765.98	37	chr16	75542650	.	A	G	765.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=770;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.13;MQRankSum=0.919;QD=10.79;ReadPosRankSum=0.824;SOR=0.659	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1202	20	0	1	0
chr16	75612655	75612655	C	T	exonic	ADAT1	.	nonsynonymous SNV	ADAT1:NM_001324452:exon5:c.G370A:p.G124R	.	.	436	1073	12	1	0	14	0.00648148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.977	D	0.661	P	0.000	N	1.000	N	1.87	L	2.51	T	-0.989	T	0.029	T	0.047	2.712	15.03	-2.54	-0.739	0.119	0.830	0.110	.	0.0033	0.00539137	0.0023	0.0072	0.0012	0.0001	0.0003	0.0015	0	0.0055	0.0022186	343	154602	rs141222568	0.0017	0.0017	0.0016	0.0019	0.0089	0.0017	0.0017	0.0081	0.0078	0.0089	0.0015	0.0014	0	0.0001	0.0029	0.0014	0.0021	0.0054	0.0032	0.0032	0.0033	0.0031	0.0081	0.0029	0.0029	0.0074	0.0071	0.0081	0	0.0018	0.0009	0.0002	0.0002	0.0034	0.0013	0.0028	0.0035	0.028	0.46129	D	0.123	0.35582	T	0.977	0.58535	D	0.661	0.52837	P	0.000000	0.00162	N	4.993250	1	0.08975	N	1.87	0.49600	L	2.51	0.14284	T	-0.7	0.19933	N	0.233	0.26233	-0.9886	0.32953	T	0.029	0.12629	T	10	0.0045692623	0.00095	T	.	.	.	0.110	0.31079	0.39	0.41279	0.235664433957	0.23186	0.41253943025870293	0.41169	0.0274356299778	0.02802	0.220728248358	0.01352	T	0.076426	0.35416	T	-0.687563	0.00043	T	-0.753732	0.03343	T	0.0521565608282326	0.05873	T	0.377662	0.09049	T	0.14975688	0.34125	0.07514438	0.16512	0.14975688	0.34125	0.07514438	0.16511	-6.349	0.49110	T	.	.	0.092	0.13597	B	.	.	0.852351	0.12243	8.789	0.96644725927525632	0.30567	0.24791	0.22502	N	AEFBI	0.077017	0.15507	N	-0.831703712897375	0.12505	0.6099461	-1.0355483808111	0.09010	0.4459589	0.202722539984916	0.18143	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.75	-2.54	0.05941	0.422000	0.21016	-0.244000	0.10566	-0.804000	0.03133	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3326:0.2704:0.2068:0.1902	0.830	0.01056	550	0.72197	Adenosine deaminase/editase|Adenosine deaminase/editase|Adenosine deaminase/editase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1883.98	34	chr16	75612655	.	C	T	1883.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.65;ReadPosRankSum=0.642;SOR=0.679	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1330	20	0	1	0
chr16	75694514	75694514	C	A	exonic	DUXB	.	nonsynonymous SNV	DUXB:NM_001351308:exon3:c.G192T:p.Q64H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	.	.	-4.49	D	0.616	D	0.884	D	0.231	2.460	14.18	2.6	1.071	0.177	7.055	0.426	.	.	.	0.0001	0	0	0	0	0.0003	0	0.0001	1.29e-05	2	154602	rs769327171	5.811e-05	5.089e-05	4.355e-05	7.044e-05	0.0010	4.203e-05	3.596e-05	0.0003	0.0002	6.327e-05	0	0	0	0	0.0010	6.941e-05	9.797e-05	3.187e-05	3.944e-05	3.941e-05	5.14e-05	2.692e-05	8.82e-05	1.716e-05	1.13e-05	3.762e-05	2.575e-05	0	0	0	0	0	0	0	8.82e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.616	0.92111	D	0.884	0.96139	D	6	0.3807806	0.54177	T	.	.	.	.	.	.	.	.	.	0.2155408437452223	0.21470	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.480052	0.14488	T	.	.	.	.	.	.	.	.	-6.076	0.46911	T	.	.	0.645	0.70702	P	.	.	2.425379	0.31191	18.67	0.99421695230293317	0.63790	0.32102	0.24503	N	AEFDBI	0.032026	0.03539	N	-0.229534372334008	0.31927	1.795231	-0.330148267074006	0.27130	1.503294	1.8729077676577E-4	0.05844	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.55	2.6	0.30173	0.205000	0.17154	-0.670000	0.07939	-0.410000	0.05266	0.947000	0.32937	0.006000	0.19429	0.132000	0.19645	0.0:0.8754:0.0:0.1246	7.055	0.24272	524	0.74079	Homeobox domain|Homeobox domain|Homeobox domain|Homeobox domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	40.01	49	chr16	75694514	.	C	A	40.01	.	AC=2;AF=0.111;AN=18;DP=49;ExcessHet=0.0000;FS=0.000;MLEAC=3;MLEAF=0.167;MQ=60.00;QD=20.01;SOR=0.693	GT:AD:DP:GQ:PL	./.	8	1	0	12
chr16	75714457	75714457	T	C	exonic	CPHXL	.	nonsynonymous SNV	CPHXL:NM_001355613:exon3:c.A985G:p.M329V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07663956	0.11996	T	.	.	.	.	.	.	.	.	.	0.00430315907806009	0.00404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411659	0.10685	T	.	.	.	.	.	.	.	.	-2.958	0.09736	T	.	.	0.151	0.33481	B	.	.	-0.718698	0.01278	0.067	0.28168169534179804	0.01433	0.00228	0.01279	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.00588232393236012	0.11069	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0532412	0.11699	1.18	-2.36	0.06282	-1.573000	0.02238	-1.626000	0.05034	0.341000	0.19778	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.3964:0.0:0.3486:0.255	2.139	0.03540	648	0.63242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	31.63	52	chr16	75714457	.	T	C	31.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-5.240e-01;DP=52;ExcessHet=0.0000;FS=0.000;MLEAC=3;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=6.33;ReadPosRankSum=1.65;SOR=0.368	GT:AD:DP:GQ:PL	./.	6	0	1	14
chr16	76540767	76540767	C	G	exonic	CNTNAP4	.	nonsynonymous SNV	CNTNAP4:NM_001322178:exon20:c.C3269G:p.S1090C	.	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.114	N	0.898	D	.	.	0.97	T	-0.575	T	0.146	T	0.684	3.726	18.92	4.7	1.632	4.348	10.848	0.258	0.0582267421171	0.0011	0.00219649	0.0010	0.0089	0.0018	0	0	0	0.0032	0	0.0004204	65	154602	rs147050576	0.0002	0.0002	0.0002	0.0002	0.0047	0.0001	0.0001	0.0041	0.0039	0.0047	0.0005	0	0	0	0.0004	2.295e-05	0.0005	3.72e-05	0.0014	0.0014	0.0014	0.0014	0.0043	0.0012	0.0012	0.0038	0.0036	0.0043	0	0.0020	0	0	0	0	2.941e-05	0	0.0002	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.994	0.88582	D	0.113725	0.19303	N	0.377447	0.897627	0.36095	D	.	.	.	0.97	0.42502	T	-3.78	0.71519	D	0.699	0.73285	-0.5745	0.65836	T	0.146	0.46950	T	9	0.015933037	0.00335	T	0.058227	0.67243	D	0.258	0.56959	.	.	0.698858692784	0.69625	0.577456133540255	0.57674	0.163869458312	0.18484	0.56249153614	0.47619	T	0.518275	0.87505	D	-0.300281	0.08633	T	-0.20398	0.54269	T	0.0674210209633076	0.08285	T	0.816718	0.47282	T	0.07280776	0.16224	0.08303052	0.18998	0.07280776	0.16224	0.08303052	0.18998	-12.231	0.86662	D	.	.	0.203	0.45359	B	.;.;.;.;.;.	.;.;.;.;.;.	4.410821	0.68239	25.2	0.99025461757986422	0.50677	0.98373	0.82117	D	AEFI	0.633708	0.61385	D	0.399320231543231	0.61385	4.338923	0.378682329541583	0.60251	4.210795	0.0175381296315155	0.12961	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.65	4.7	0.58776	4.398000	0.59457	5.808000	0.49986	-0.202000	0.08738	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.8578:0.0:0.1422	10.848	0.45960	896	0.25515	Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;.;Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	762.98	37	chr16	76540767	.	C	G	762.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.091e+00;DP=762;ExcessHet=0.0000;FS=2.021;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.39;ReadPosRankSum=0.753;SOR=0.672	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1049	20	0	1	0
chr16	77194944	77194944	C	T	exonic	MON1B	.	nonsynonymous SNV	MON1B:NM_001286640:exon2:c.C647T:p.A216V	.	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.712	P	0.378	B	0.000	D	1.000	D	1.26	L	.	.	-1.016	T	0.130	T	0.216	4.160	21.5	3.81	1.188	6.221	10.946	0.056	0.00630907965356	0.0005	0.000798722	0.0004	0.0002	0.0002	0.0001	0	0.0004	0	0.0005	0.0003752	58	154602	rs201669108	0.0004	0.0004	0.0004	0.0004	0.0010	0.0004	0.0004	0.0006	0.0005	0.0001	0.0004	3.826e-05	2.519e-05	0	0.0010	0.0004	0.0003	0.0007	0.0004	0.0004	0.0004	0.0005	0.0010	0.0004	0.0003	0.0005	0.0005	7.21e-05	0	0.0007	0	0	0	0	0.0007	0.0005	0.0010	0.278	0.16251	T	0.325	0.26386	T	0.712	0.42110	P	0.378	0.43788	B	0.000002	0.62929	D	0.101145	0.999825	0.81001	D	1.5	0.37844	L	.	.	.	-0.78	0.27463	N	0.182	0.22614	-1.0158	0.25078	T	0.130	0.43927	T	9	0.017482847	0.00373	T	0.006309	0.16580	T	0.056	0.15993	.	.	0.186928172975	0.18263	0.4358905051829629	0.43506	0.402438027903	0.41195	0.592749357224	0.51883	T	0.057604	0.30612	T	-0.33356	0.05846	T	-0.380653	0.35647	T	0.0423420446721662	0.04118	T	0.752925	0.37500	T	0.05723142	0.11362	0.099580765	0.23782	0.05723142	0.11362	0.099580765	0.23781	-7.068	0.54529	T	.	.	0.149	0.32874	B	.;.;.	.;.;.	3.945554	0.57762	23.9	0.99917190915655862	0.98518	0.93861	0.59403	D	AEFDBCI	0.719785	0.67056	D	-0.0136357295893251	0.41238	2.463074	0.109642610146906	0.45039	2.774381	0.999999998994424	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.8	3.81	0.43020	6.327000	0.72869	6.216000	0.55070	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.999000	0.91618	0.2603:0.7397:0.0:0.0	10.946	0.46511	852	0.35056	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1750.98	144	chr16	77194944	.	C	T	1750.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.839e+00;DP=2975;ExcessHet=0.0000;FS=9.192;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.12;ReadPosRankSum=0.987;SOR=0.310	GT:AD:DP:GQ:PL	0/0:179,0:179:99:0,120,1800	20	0	1	0
chr16	77212327	77212327	A	C	exonic	SYCE1L	.	nonsynonymous SNV	SYCE1L:NM_001348924:exon7:c.A416C:p.H139P	.	.	390	1116	14	2	0	18	0.008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.0	B	0.0	B	0.608	U	1.000	N	0	N	0.92	T	-1.031	T	0.053	T	0.081	0.671	7.591	0.55	-0.104	0.028	5.215	0.010	.	.	0.00259585	0.0034	0	0	0	0	0.0020	0	0.0052	0.0008068	21	26028	rs563915036	0.0008	0.0008	0.0006	0.0010	0.0065	0.0008	0.0007	0.0060	0.0058	0.0007	0.0007	0.0071	2.847e-05	4.254e-05	0.0041	0.0003	0.0014	0.0065	0.0007	0.0007	0.0006	0.0008	0.0069	0.0006	0.0005	0.0050	0.0044	4.821e-05	0.0022	0.0010	0.0058	0.0004	0	0.0103	0.0003	0.0024	0.0069	0.284	0.15303	T	0.317	0.19304	T	0.0	0.02946	B	0.0	0.01387	B	0.608157	0.05685	U	1.615030	1	0.08975	N	0	0.06538	N	0.92	0.44461	T	-0.34	0.12661	N	0.068	0.04072	-1.0308	0.20195	T	0.053	0.22539	T	10	0.003554076	0.00064	T	.	.	.	0.010	0.01040	.	.	0.0297737177859	0.01360	0.07145139790183969	0.07082	2.51436962822E-4	0.00014	0.398789763451	0.24900	T	5.55E-4	0.00219	T	-0.559405	0.00256	T	-0.576057	0.14898	T	0.00948043332231999	0.00122	T	0.144286	0.01174	T	0.10560573	0.24970	0.11362108	0.27423	0.10560573	0.24970	0.11362108	0.27422	-3.397	0.15016	T	.	.	0.081	0.08129	B	.	.	0.939460	0.13151	9.652	0.6522926523551581	0.07714	0.04932	0.10689	N	ALL	0.066917	0.13127	N	-1.34394922683636	0.03188	0.1419939	-1.37463106260825	0.03524	0.1645718	0.999999999986809	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.47417	0.07244	0	0.372554	0.06265	0	.	.	2.61	0.55	0.16408	-0.064000	0.11593	0.003000	0.13321	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.4696:0.0:0.5304:0.0	5.215	0.14658	859	0.33891	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	42.98	20	chr16	77212327	.	A	C	42.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.324;DP=573;ExcessHet=0.0000;FS=2.884;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.53;ReadPosRankSum=0.820;SOR=0.899	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:27,0:27:75:.:.:0,75,1125	20	0	1	0
chr16	77319905	77319905	T	G	exonic	ADAMTS18	.	nonsynonymous SNV	ADAMTS18:NM_001326358:exon16:c.A1960C:p.N654H	Microcornea, myopic chorioretinal atrophy, and telecanthus, Autosomal recessive	.	1	1452	66	3	0	72	0.0241935	.	.	1157850	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.05	D	0.603	P	0.275	B	0.000	N	0.993	D	2.21	M	0.67	T	-0.930	T	0.133	T	0.141	2.821	15.40	3.1	0.900	1.553	6.986	0.154	.	0.0008	0.00519169	0.0045	0.0003	0.0010	0.0001	0.0053	0.0016	0.0033	0.0236	0.003978	615	154602	rs143047414	0.0026	0.0026	0.0018	0.0034	0.0254	0.0025	0.0025	0.0245	0.0242	0.0003	0.0007	0.0083	5.038e-05	0.0043	0.0163	0.0008	0.0029	0.0254	0.0018	0.0018	0.0013	0.0024	0.0232	0.0017	0.0016	0.0197	0.0184	9.626e-05	0	0.0009	0.0069	0.0004	0.0047	0.0102	0.0010	0.0028	0.0232	0.051	0.39334	T	0.091	0.40110	T	0.603	0.39389	P	0.275	0.40079	B	0.000259	0.46924	N	0.216159	0.992794	0.41745	D	2.33	0.66821	M	0.67	0.52187	T	-2.72	0.57920	D	0.376	0.41754	-0.9297	0.44183	T	0.133	0.44504	T	10	0.004567474	0.00095	T	.	.	.	0.154	0.40340	.	.	0.584023569625	0.58075	0.5169625543263867	0.51619	.	.	0.371716141701	0.21078	T	0.093123	0.39147	T	-0.511234	0.00494	T	-0.488205	0.23578	T	0.04476698695772	0.04559	T	0.680232	0.28883	T	0.16513127	0.36765	0.12808686	0.30822	0.16513127	0.36765	0.12808686	0.30821	-4.831	0.34951	T	.	.	0.067	0.02458	B	.	.	2.067435	0.26289	17.07	0.99152019088237753	0.53848	0.88569	0.48558	D	AEFDBI	0.308398	0.41500	N	-0.0971111787511456	0.37519	2.183957	-0.094354553607333	0.35622	2.063184	0.335326949362916	0.19528	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.54	3.1	0.34780	1.538000	0.35700	2.242000	0.31619	-0.115000	0.14600	0.999000	0.42656	0.999000	0.35428	0.803000	0.37862	0.14:0.0:0.2906:0.5694	6.986	0.23909	771	0.49057	ADAM-TS Spacer 1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1431.98	124	chr16	77319905	.	T	G	1431.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.840e-01;DP=825;ExcessHet=0.0000;FS=1.461;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=-3.580e-01;SOR=0.551	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1141	20	0	1	0
chr16	77325982	77325982	T	C	exonic	ADAMTS18	.	nonsynonymous SNV	ADAMTS18:NM_001326358:exon13:c.A1400G:p.N467S	Microcornea, myopic chorioretinal atrophy, and telecanthus, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	844318	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.997	D	0.985	D	0.000	D	1.000	D	2.335	M	3.46	T	-1.178	T	0.055	T	0.214	4.257	22.2	4.89	1.097	3.523	11.093	0.219	0.00977239833422	0.0006	0.000199681	0.0005	9.61e-05	8.682e-05	0.0001	0	0.0006	0	0.0010	0.0004592	71	154602	rs142639977	0.0005	0.0005	0.0005	0.0005	0.0007	0.0005	0.0005	0.0006	0.0006	2.987e-05	0	0	2.52e-05	1.872e-05	0.0003	0.0006	0.0003	0.0007	0.0003	0.0003	0.0004	0.0003	0.0006	0.0003	0.0002	0.0005	0.0004	0.0001	0	0.0001	0	0	0	0	0.0006	0	0.0004	0.004	0.65419	D	0.056	0.46632	T	0.997	0.70673	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.999953	0.52396	D	1.66	0.42513	L	3.46	0.05249	T	-4.56	0.78636	D	0.386	0.42737	-1.1782	0.00397	T	0.055	0.23148	T	10	0.11436626	0.21515	T	0.009772	0.25495	T	0.219	0.51417	.	.	0.512539161327	0.50896	0.5626233936329291	0.56189	.	.	0.53309071064	0.43470	T	0.134772	0.46621	T	-0.445813	0.01195	T	-0.507071	0.21617	T	0.439864009618759	0.30424	T	0.865613	0.56501	D	0.3106371	0.53841	0.27697963	0.53647	0.3106371	0.53841	0.27697963	0.53646	-5.574	0.42554	T	.	.	0.076	0.05845	B	.	.	3.161740	0.42843	21.6	0.99889072908255638	0.96359	0.94941	0.62864	D	AEI	0.532102	0.55211	D	0.549785823821541	0.70068	5.447669	0.505434502773002	0.68354	5.208672	0.999994430289123	0.74766	0.732398	0.92422	0	0.588015	0.36545	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	5.98	4.89	0.63387	3.504000	0.53107	0.963000	0.23005	0.665000	0.62972	1.000000	0.71638	0.824000	0.27153	0.941000	0.48210	0.0:0.0714:0.0:0.9286	11.093	0.47348	771	0.49057	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1813.98	38	chr16	77325982	.	T	C	1813.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.05;DP=885;ExcessHet=0.0000;FS=2.052;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=-1.399e+00;SOR=0.871	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr16	77367450	77367450	G	A	exonic	ADAMTS18	.	nonsynonymous SNV	ADAMTS18:NM_199355:exon4:c.C769T:p.R257C,	Microcornea, myopic chorioretinal atrophy, and telecanthus, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1450484	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.395	M	2.07	T	-0.170	T	0.387	T	0.8	4.439	23.6	4.01	1.276	6.039	14.343	0.436	0.237580525956	.	.	4.121e-05	0	0	0	0	2.998e-05	0	0.0002	3.23e-05	5	154602	rs765623782	2.052e-05	2.052e-05	2.178e-05	1.925e-05	0.0001	1.456e-05	1.264e-05	6.246e-05	4.757e-05	2.987e-05	0	0	2.519e-05	0	0	1.439e-05	3.311e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.585	0.75554	M	0.08	0.61559	T	-4.78	0.80510	D	0.764	0.76203	-0.1698	0.78433	T	0.387	0.74180	T	10	0.84236765	0.83394	D	0.237581	0.88550	D	0.436	0.74093	.	.	0.83866937364	0.83712	0.5077151532028961	0.50693	.	.	0.757261157036	0.75522	T	0.350	0.71820	T	-0.0259074	0.48008	T	0.0295569	0.72250	D	0.866707623004913	0.51676	D	0.926207	0.72857	D	0.50980234	0.67668	0.47283018	0.69441	0.50980234	0.67669	0.47283018	0.69441	-12.28	0.86188	D	.	.	0.400	0.59567	A	.	.	5.875241	0.93908	33	0.99932245390923091	0.99439	0.96535	0.69625	D	AEFBI	0.854342	0.77136	D	0.662402314671033	0.77175	6.624097	0.598364433465911	0.74820	6.202947	0.999631389136412	0.41205	0.562547	0.31514	0	0.573888	0.26702	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	4.99	4.01	0.45821	6.340000	0.72922	11.877000	0.98731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1491:0.8509:0.0	14.343	0.66201	784	0.47045	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1595.98	34	chr16	77367450	.	G	A	1595.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.71;DP=860;ExcessHet=0.0000;FS=3.056;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=-1.296e+00;SOR=0.474	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1175	20	0	1	0
chr16	77434661	77434661	G	C	exonic	ADAMTS18	.	nonsynonymous SNV	ADAMTS18:NM_199355:exon1:c.C35G:p.P12R,	Microcornea, myopic chorioretinal atrophy, and telecanthus, Autosomal recessive	.	8	1512	2	0	0	2	0.000660939	.	.	364202	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.92	T	0.0	B	0.001	B	0.999	N	1.000	N	-0.205	N	2.9	T	-1.060	T	0.081	T	0.172	-1.869	0.008	3.06	0.665	1.182	10.062	0.033	.	.	0.00179712	0.0037	0	0	0	.	0.0116	0	0.0012	0.0009961	154	154602	rs200952997	0.0077	0.0072	0.0077	0.0077	0.0083	0.0076	0.0075	0.0082	0.0081	0.0009	0.0023	0.0116	6.81e-05	0.0174	0.0017	0.0083	0.0064	0.0021	0.0062	0.0062	0.0062	0.0063	0.0091	0.0059	0.0058	0.0085	0.0083	0.0016	0.0011	0.0026	0.0104	0	0.0152	0	0.0091	0.0071	0.0021	1.0	0.00964	T	0.797	0.04104	T	0.0	0.02946	B	0.001	0.04355	B	0.998733	0.07951	N	1.000780	1	0.08975	N	0.345	0.11182	N	0.33	0.58323	T	0.11	0.05706	N	0.099	0.08088	-1.0600	0.11756	T	0.081	0.31943	T	10	0.0038737953	0.00073	T	.	.	.	0.033	0.08068	.	.	0.359357374593	0.35551	0.1698177455918712	0.16901	.	.	0.799145042896	0.81832	T	0.005762	0.05208	T	-0.523518	0.00420	T	-0.513742	0.20931	T	0.0104067942773255	0.00143	T	0.367463	0.08589	T	0.025524508	0.01499	0.08228923	0.18768	0.040071856	0.05650	0.059351996	0.11125	-3.105	0.11353	T	.	.	0.051	0.00183	B	.	.	2.279199	0.29141	18.03	0.58330083473862182	0.05969	0.13722	0.18016	N	AEFDBHCI	0.064742	0.12588	N	-1.04398221197312	0.07706	0.3589066	-0.974589639554676	0.10358	0.5211734	0.999999923734621	0.74766	0.455138	0.09556	0	0.59043	0.45803	0	0.606814	0.37721	0	0.56751	0.32155	0	.	.	4.03	3.06	0.34374	1.395000	0.34129	1.477000	0.26794	0.668000	0.69082	0.057000	0.21666	0.937000	0.28687	0.847000	0.40026	0.0:0.2647:0.7353:0.0	10.062	0.41452	887	0.27948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	237.98	22	chr16	77434661	.	G	C	237.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.780e-01;DP=654;ExcessHet=0.0000;FS=1.602;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.00;ReadPosRankSum=-1.470e-01;SOR=0.327	GT:AD:DP:GQ:PL	0/0:32,0:32:90:0,90,1350	20	0	1	0
chr16	77825412	77825412	A	C	exonic	VAT1L	.	nonsynonymous SNV	VAT1L:NM_020927:exon3:c.A530C:p.N177T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.915	P	0.23	B	0.000	D	1.000	D	1.99	M	0.9	T	-0.944	T	0.112	T	0.4	4.021	20.6	6.03	2.308	7.515	16.220	0.214	0.0174168549514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.858e-07	6.84e-07	1.364e-06	0	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.009	0.66756	D	0.915	0.50599	P	0.23	0.38212	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.705	0.44259	L	0.9	0.45248	T	-5.05	0.82700	D	0.771	0.76853	-0.9442	0.41944	T	0.112	0.40052	T	10	0.7215656	0.73697	D	0.017417	0.39111	T	0.214	0.50650	0.381	0.39807	0.513958542087	0.51037	0.630029550161172	0.62936	0.198744863821	0.22255	0.627249658108	0.56755	T	0.267394	0.63942	T	-0.0532574	0.43951	T	-0.314277	0.43199	T	0.979408025741577	0.72814	D	0.935306	0.75759	D	0.83954215	0.86576	0.77986926	0.87021	0.83954215	0.86577	0.77986926	0.87022	-8.593	0.65043	D	.	.	0.445	0.61973	A	.	.	4.436697	0.68853	25.3	0.99266519894344651	0.57390	0.98352	0.81910	D	AEFBI	0.928268	0.91221	D	0.532301399299342	0.69012	5.296904	0.613026102636486	0.75885	6.390386	0.999999972685169	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.586402	0.36253	0	.	.	6.03	6.03	0.97798	7.501000	0.80435	9.285000	0.79745	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.220	0.82072	932	0.16191	Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1588.98	34	chr16	77825412	.	A	C	1588.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.000e-03;DP=860;ExcessHet=0.0000;FS=1.391;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=0.640;SOR=0.569	GT:AD:DP:GQ:PL	0/1:72,66:138:99:1603,0,1838	20	0	1	0
chr16	78115103	78115103	C	T	exonic	WWOX	.	nonsynonymous SNV	WWOX:NM_001291997:exon3:c.C19T:p.R7W	Epileptic encephalopathy, early infantile, 28, Autosomal recessive;Esophageal squamous cell carcinoma, somatic;Spinocrebellar ataxia, autosomal recessive 12, Autosomal recessive	.	2	1446	71	3	0	77	0.0259347	.	.	215521	not_specified|Developmental_and_epileptic_encephalopathy,_28|Developmental_and_epileptic_encephalopathy,_1|Autosomal_recessive_spinocerebellar_ataxia_12|not_provided	MedGen:CN169374|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211,Orphanet:442835|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322,Orphanet:284282|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.988	D	0.000	D	1.000	D	1.75	L	0.69	T	0.058	D	0.488	T	0.76	4.306	22.6	4.64	1.485	4.493	9.680	0.478	.	0.0057	0.00579073	0.0076	0.0019	0.0021	0.0013	0.0067	0.0080	0.0056	0.0169	0.0072185	1116	154602	rs141361080	0.0076	0.0076	0.0074	0.0078	0.0169	0.0075	0.0074	0.0162	0.0159	0.0017	0.0031	0.0017	0.0005	0.0101	0.0104	0.0075	0.0068	0.0169	0.0057	0.0057	0.0052	0.0062	0.0164	0.0054	0.0053	0.0135	0.0124	0.0015	0.0011	0.0063	0.0003	0.0017	0.0077	0.0238	0.0077	0.0024	0.0164	0.017	0.91255	D	0.026	0.76473	D	0.999	0.90584	D	0.855	0.77976	P	0.000004	0.62929	D	0.063541	0.999936	0.51612	D	2.215	0.62545	M	-1.29	0.80474	T	-4.51	0.87611	D	0.712	0.72567	0.058	0.83399	D	0.488	0.80525	T	10	0.014221847	0.00299	T	.	.	.	0.478	0.76946	.	.	0.871509983124	0.87026	0.700688383716545	0.70009	.	.	0.504459321499	0.39449	T	0.496922	0.81901	T	-0.114249	0.34068	T	0.0773926	0.75403	D	0.0251814037871313	0.01296	T	0.977402	0.92360	D	0.24572647	0.47533	0.17291698	0.39581	0.26095876	0.49153	0.16274048	0.37787	-12.231	0.89198	D	0.5718421197101098	0.63897	0.191	0.60899	B	.;.;.;.;.;.	.;.;.;.;.;.	5.359359	0.89882	31	0.99907486830016112	0.97801	0.93570	0.58578	D	AEFBI	0.634543	0.61437	D	0.431051714139771	0.63136	4.541765	0.424547021946113	0.63096	4.536986	0.959671742177644	0.28441	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.6	4.64	0.57399	4.540000	0.60375	4.104000	0.41881	-0.218000	0.08083	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.142:0.788:0.0:0.07	9.680	0.39228	887	0.27948	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	2498.98	40	chr16	78115103	.	C	T	2498.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.479;DP=1125;ExcessHet=0.0000;FS=5.374;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.20;ReadPosRankSum=0.846;SOR=1.019	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1212	20	0	1	0
chr16	79211693	79211693	G	A	exonic	WWOX	.	nonsynonymous SNV	WWOX:NM_001291997:exon8:c.G803A:p.R268H	Epileptic encephalopathy, early infantile, 28, Autosomal recessive;Esophageal squamous cell carcinoma, somatic;Spinocrebellar ataxia, autosomal recessive 12, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	401874	Intellectual_disability|not_provided|WWOX-related_disorder|Developmental_and_epileptic_encephalopathy,_1|Autosomal_recessive_spinocerebellar_ataxia_12	Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MedGen:C3661900|.|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322,Orphanet:284282	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.994	D	0.000	N	1.000	D	2.25	M	-0.06	T	-0.554	T	0.541	D	0.82	3.043	16.16	5.67	2.667	9.120	19.779	0.159	0.129616378472	0.0002	0.000199681	0.0006	0.0001	0.0020	0.0001	0	0.0004	0.0011	0.0016	0.0005563	86	154602	rs202002431	0.0004	0.0004	0.0004	0.0004	0.0013	0.0004	0.0003	0.0011	0.0011	8.961e-05	0.0013	3.826e-05	0.0001	1.872e-05	0.0009	0.0003	0.0005	0.0013	0.0003	0.0003	0.0003	0.0003	0.0007	0.0002	0.0002	0.0004	0.0003	0.0003	0	0.0007	0	0.0002	0	0	0.0002	0.0009	0.0004	0.54	0.06802	T	0.595	0.44302	T	0.48	0.77913	P	0.042	0.82059	B	0.000000	0.00162	N	409.830000	0.999996	0.81001	D	.	.	.	-0.06	0.63568	T	-1.49	0.36385	N	0.803	0.79889	-0.5538	0.66642	T	0.541	0.83075	D	10	0.114679754	0.21583	T	0.129616	0.81169	D	0.324	0.64624	.	.	0.882525101997	0.88137	0.5959866440795996	0.59528	.	.	0.608229160309	0.54066	T	0.241996	0.61064	T	-0.323908	0.06583	T	-0.268127	0.48009	T	0.0581392670008807	0.06873	T	0.952005	0.83363	D	0.17004988	0.37557	0.14476465	0.34357	0.14637952	0.33511	0.13846436	0.33067	-7.333	0.56430	T	0.42246503922180334	0.51101	0.336	0.55603	B	.;.	.;.	3.919083	0.57202	23.8	0.98098533877150129	0.38254	0.98778	0.86731	D	AEFDBI	0.843493	0.76052	D	0.658693034112835	0.76933	6.578539	0.704782690521681	0.82744	7.843008	0.999999999998887	0.74766	0.653281	0.48532	0	0.659912	0.62753	0	0.675528	0.61593	0	0.564101	0.26826	0	.	.	5.67	5.67	0.87673	9.246000	0.94587	11.771000	0.95863	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.869000	0.41347	0.0:0.0:1.0:0.0	19.779	0.96401	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	805.98	47	chr16	79211693	.	G	A	805.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.225;DP=801;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.35;ReadPosRankSum=1.14;SOR=0.786	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1154	20	0	1	0
chr16	79599169	79599169	G	A	exonic	MAF	.	nonsynonymous SNV	MAF:NM_001031804:exon1:c.C734T:p.A245V	Ayme-Gripp syndrome, Autosomal dominant;Cataract 21, multiple types, Autosomal dominant	.	9	1512	1	0	0	1	0.000330579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.103	B	0.008	B	0.059	U	0.669	N	0.55	N	-1.26	T	-0.794	T	0.212	T	0.127	1.765	11.86	2.43	1.373	-0.232	8.400	0.128	0.32206401119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.376e-06	2.737e-06	3.266e-06	3.494e-06	4.145e-06	7.9e-07	5.3e-07	9.7e-07	6.5e-07	0	0	0	0	0	0	4.145e-06	0	0	6.816e-06	6.584e-06	0	1.402e-05	6.766e-05	0	0	.	.	0	0	6.766e-05	0	0	0	0	0	0	0	0.129	0.26852	T	0.302	0.21478	T	0.103	0.25884	B	0.008	0.13708	B	0.058868	0.22368	U	0.188573	0.66932	0.30379	N	0	0.06538	N	-1.26	0.79176	T	-0.36	0.13611	N	0.146	0.14763	-0.7942	0.55485	T	0.212	0.57214	T	10	0.19132939	0.34814	T	0.322064	0.91503	D	0.128	0.35103	0.184	0.09259	0.930958587709	0.93024	0.26778003735971484	0.26691	.	.	0.84415358305	0.88727	D	0.201143	0.55894	T	-0.118296	0.33402	T	-0.4077	0.32489	T	0.242747851572725	0.22545	T	0.484852	0.15758	T	0.09471182	0.22275	0.13796625	0.32962	0.09471182	0.22275	0.13796625	0.32961	-5.754	0.45170	T	0.3711001893197455	0.46660	0.100	0.29477	B	.;.;.	.;.;.	3.700708	0.52779	23.3	0.97950983676718362	0.37100	0.66311	0.33034	D	AEFDBCI	0.288431	0.40033	N	-0.38248472031794	0.26093	1.421439	-0.263309018202694	0.29317	1.641523	0.999996860012056	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	2.43	2.43	0.28797	1.926000	0.39715	8.161000	0.76737	0.459000	0.21562	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	8.400	0.31742	948	0.11499	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	651.98	34	chr16	79599169	.	G	A	651.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.770e-01;DP=851;ExcessHet=0.0000;FS=1.388;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=0.915;SOR=0.457	GT:AD:DP:GQ:PL	0/0:42,0:42:90:0,90,1350	20	0	1	0
chr16	79599202	79599204	CCG	-	exonic	MAF	.	nonframeshift deletion	MAF:NM_001031804:exon1:c.699_701del:p.G238del	Ayme-Gripp syndrome, Autosomal dominant;Cataract 21, multiple types, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1146554	Cataract_21_multiple_types|Ayme-Gripp_syndrome|not_provided	MONDO:MONDO:0012437,MedGen:C1857768,OMIM:610202,Orphanet:91492|MONDO:MONDO:0010992,MedGen:C1832812,OMIM:601088|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1161669886	0.0009	0.0077	0.0009	0.0009	0.0019	0.0008	0.0008	0.0008	0.0008	0.0010	0.0009	0.0008	0.0008	0	0.0019	0.0009	0.0009	0.0012	2.779e-05	4.043e-05	0	5.724e-05	0.0002	9.49e-06	5.38e-06	.	.	2.511e-05	0	0	0	0.0002	0	0	1.531e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	136.05	8	chr16	79599201	.	TCCG	T	136.05	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.330e-01;DP=344;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0322;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.25;ReadPosRankSum=0.501;SOR=0.941	GT:AD:DP:GQ:PL	0/0:10,0:10:12:0,12,180	20	0	1	0
chr16	79599457	79599457	G	A	exonic	MAF	.	nonsynonymous SNV	MAF:NM_001031804:exon1:c.C446T:p.S149F	Ayme-Gripp syndrome, Autosomal dominant;Cataract 21, multiple types, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.697	P	0.217	B	0.261	U	0.982	N	0.55	N	-4.44	D	0.252	D	0.753	D	0.129	-1.445	0.020	1.85	0.515	-0.232	6.045	0.292	0.974193008318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.68238	D	0.699	0.05767	T	0.662	0.41767	P	0.217	0.37636	B	0.260945	0.03708	U	1.742840	0.982388	0.24968	N	0.345	0.11182	N	-4.44	0.97515	D	-0.73	0.22294	N	0.338	0.41754	0.252	0.86773	D	0.753	0.91578	D	10	0.3508621	0.51948	T	0.974193	0.99850	D	0.292	0.61157	0.292	0.25400	0.795249392789	0.79334	0.4714483076817061	0.47063	.	.	0.949474453926	0.99739	D	0.200144	0.55764	T	0.0334081	0.56176	T	-0.189788	0.55610	T	0.14654719576492	0.16826	T	0.624837	0.24114	T	0.12932315	0.30209	0.15665963	0.36667	0.12932315	0.30209	0.15665963	0.36666	-6.293	0.48666	T	0.3377025740654611	0.43559	0.446	0.63248	A	.;.;.	.;.;.	2.873741	0.38005	20.6	0.14213069365501496	0.00306	0.35518	0.25320	N	AEFDBCI	0.174454	0.30158	N	-0.63611008188468	0.17867	0.9230689	-0.680891641953148	0.17439	0.9272835	0.999989265362801	0.51787	0.59774	0.34471	0	0.596491	0.49125	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	2.83	1.85	0.24418	1.527000	0.35581	7.131000	0.57624	0.441000	0.21086	0.984000	0.35821	1.000000	0.68203	0.344000	0.25523	0.1108:0.0:0.7044:0.1848	6.045	0.18980	948	0.11499	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1269.98	31	chr16	79599457	.	G	A	1269.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.30;DP=755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=-2.070e-01;SOR=0.629	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,970	20	0	1	0
chr16	81026555	81026555	G	A	exonic	CENPN	.	nonsynonymous SNV	CENPN:NM_001270473:exon8:c.G667A:p.V223I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.002	B	0.002	B	0.416	N	1.000	N	0	N	1.96	T	-0.989	T	0.018	T	0.021	0.438	6.378	-6.5	-1.247	-1.071	10.067	0.009	.	0.0046	0.00459265	0.0014	0.0149	0.0015	0	0	0	0	0	0.0012484	193	154602	rs75058642	0.0004	0.0004	0.0005	0.0004	0.0154	0.0004	0.0004	0.0143	0.0139	0.0154	0.0011	0	0.0001	0	0.0005	5.44e-06	0.0007	0	0.0045	0.0045	0.0047	0.0044	0.0157	0.0042	0.0041	0.0147	0.0143	0.0157	0	0.0021	0	0	0	0	1.471e-05	0.0019	0	0.236	0.18061	T	0.265	0.22694	T	0.0	0.02946	B	0.001	0.04355	B	0.416149	0.04620	N	1.333650	1	0.08975	N	0.69	0.16971	N	1.96	0.22270	T	-0.49	0.15578	N	0.114	0.16168	-0.9893	0.32778	T	0.018	0.07376	T	10	0.0048529804	0.00103	T	.	.	.	0.009	0.00846	.	.	0.101711395817	0.09552	0.12081740288590756	0.12008	0.0118432227358	0.01115	0.266549825668	0.05696	T	0.008207	0.07549	T	-0.72675	0.00025	T	-0.803077	0.01826	T	0.0021404126234558	0.00022	T	0.537746	0.18100	T	0.016756853	0.00220	0.02907682	0.01206	0.016756853	0.00220	0.02907682	0.01206	-3.221	0.13302	T	.	.	0.069	0.07224	B	.;.;.;.	.;.;.;.	-1.005181	0.00763	0.024	0.73397749291752246	0.10313	0.03873	0.09239	N	AEFDBHCI	0.026122	0.01906	N	-1.50254658616892	0.01833	0.08037079	-1.55190275435441	0.01963	0.08962539	0.993968556004938	0.33430	0.744818	0.98587	0	0.708844	0.79440	0	0.724815	0.87919	0	0.76194	0.99817	0	.	.	5.25	-6.5	0.01714	-0.861000	0.04376	-0.262000	0.10418	-0.251000	0.07141	0.000000	0.06391	0.000000	0.08366	0.168000	0.20914	0.1748:0.3018:0.5234:0.0	10.067	0.41481	711	0.56613	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1293.98	34	chr16	81026555	.	G	A	1293.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.134;DP=780;ExcessHet=0.0000;FS=0.800;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.22;ReadPosRankSum=0.828;SOR=0.802	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1135	20	0	1	0
chr16	81026592	81026592	C	T	exonic	CENPN	.	nonsynonymous SNV	CENPN:NM_001270473:exon8:c.C704T:p.T235I	.	.	444	1074	4	0	0	4	0.00185874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.036	B	0.037	B	0.009	N	1.000	N	1.085	L	1.95	T	-1.075	T	0.027	T	0.042	1.083	9.421	3.05	0.674	0.559	7.094	0.050	.	0.0078	0.00159744	0.0056	0.0013	0.0033	0	0.0067	0.0086	0.0033	0.0004	0.0058473	904	154602	rs184140976	0.0076	0.0078	0.0078	0.0074	0.0090	0.0075	0.0074	0.0089	0.0088	0.0015	0.0043	0.0041	0	0.0048	0.0031	0.0090	0.0068	0.0004	0.0058	0.0058	0.0061	0.0055	0.0094	0.0055	0.0054	0.0088	0.0085	0.0013	0	0.0074	0.0049	0	0.0043	0	0.0094	0.0062	0.0008	0.069	0.39575	T	0.086	0.46182	T	0.004	0.12183	B	0.023	0.19966	B	0.009252	0.30447	N	0.387872	0.777261	0.29372	N	1.16	0.29674	L	1.95	0.22474	T	-3.37	0.66665	D	0.187	0.26111	-1.0753	0.08287	T	0.027	0.11574	T	10	0.012299359	0.00265	T	.	.	.	0.050	0.13987	.	.	0.190952846119	0.18690	0.36160453263133374	0.36074	0.0127320834133	0.01221	0.339266866446	0.16329	T	0.034539	0.23362	T	-0.650431	0.00072	T	-0.696045	0.06044	T	0.0144336417407577	0.00291	T	0.653235	0.26965	T	0.069666594	0.15280	0.10793976	0.25994	0.069666594	0.15280	0.10793976	0.25993	-2.243	0.05884	T	.	.	0.116	0.29367	B	.;.;.;.	.;.;.;.	1.113104	0.14983	11.49	0.97702130507212881	0.35442	0.15313	0.18850	N	AEFDBHCIJ	0.052189	0.09292	N	-0.552009113051416	0.20421	1.076377	-0.48105105455134	0.22675	1.232842	0.656211835155867	0.22220	0.744818	0.98587	0	0.708844	0.79440	0	0.724815	0.87919	0	0.76194	0.99817	0	.	.	5.25	3.05	0.34272	0.930000	0.28458	1.827000	0.29086	-0.224000	0.07868	0.001000	0.13787	0.409000	0.24749	0.589000	0.31115	0.0:0.6533:0.1203:0.2264	7.094	0.24478	711	0.56613	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1270.98	34	chr16	81026592	.	C	T	1270.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.400e-02;DP=799;ExcessHet=0.0000;FS=3.719;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=0.225;SOR=1.149	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1135	20	0	1	0
chr16	81035954	81035954	-	GCCGCC	exonic	ATMIN	.	nonframeshift insertion	ATMIN:NM_015251:exon1:c.84_85insGCCGCC:p.A33_S34insAA,	.	.	582	938	2	0	0	2	0.00106496	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1318669732	2.63e-05	1.984e-05	2.569e-05	2.7e-05	0.0005	1.751e-05	1.463e-05	4.36e-06	3.15e-06	0	0	0.0014	0	0	0.0005	1.014e-05	0.0001	5.663e-05	2.759e-05	2.668e-05	2.683e-05	2.838e-05	0.0002	8.45e-06	5.35e-06	.	.	0	0	0	0.0009	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	190.15	5	chr16	81035954	.	A	AGCCGCC	190.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.842;DP=213;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0386;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=27.16;ReadPosRankSum=-1.981e+00;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:8,0:8:24:.:.:0,24,264	20	0	1	0
chr16	81043411	81043411	A	G	exonic	ATMIN	.	nonsynonymous SNV	ATMIN:NM_001300728:exon4:c.A445G:p.K149E	.	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.979	D	0.604	P	0.000	D	1.000	D	2.045	M	4.09	T	-1.089	T	0.003	T	0.597	3.169	16.60	6.08	2.333	8.699	16.644	0.169	.	0.0005	0.0105831	0.0073	0	0.0004	0.0508	0.0393	0.0022	0.0198	0.0012	0.0062548	967	154602	rs2278023	0.0032	0.0032	0.0033	0.0032	0.0450	0.0031	0.0031	0.0432	0.0425	0	0.0003	0.0014	0.0450	0.0382	0.0009	0.0004	0.0033	0.0017	0.0058	0.0059	0.0033	0.0086	0.0462	0.0055	0.0054	0.0413	0.0395	4.841e-05	0	0.0001	0.0014	0.0462	0.0494	0	0.0015	0.0038	0.0031	0.002	0.72154	D	0.018	0.59732	D	0.979	0.59044	D	0.604	0.50922	P	0.000001	0.84330	D	0.128026	0.999772	0.48980	D	2.825	0.82220	M	4.09	0.02973	T	-0.93	0.28906	N	0.472	0.50778	-1.0890	0.05701	T	0.003	0.00897	T	10	0.0051190555	0.00111	T	.	.	.	0.169	0.43123	.	.	0.435152311215	0.43136	0.43017945062551205	0.42934	0.0487222803821	0.05321	0.444493472576	0.31191	T	0.198759	0.55584	T	-0.375265	0.03336	T	-0.277511	0.47059	T	0.119603361307646	0.14391	T	0.906209	0.66975	D	0.4336957	0.62994	0.4473388	0.67817	0.4336957	0.62994	0.4473388	0.67817	-6.595	0.51015	T	.	.	0.297	0.62874	B	.;.;.	.;.;.	3.151061	0.42657	21.6	0.99713206301609769	0.81493	0.99607	0.97932	D	AEFBI	0.903581	0.85284	D	0.709241146161883	0.80239	7.250273	0.746098032474801	0.85866	8.709907	0.99999998011676	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.08	6.08	0.98982	8.744000	0.91285	8.085000	0.76497	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	1.0:0.0:0.0:0.0	16.644	0.85012	691	0.58815	.;.;.	.	.	.	.	rs2278023	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1545.98	45	chr16	81043411	.	A	G	1545.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.01;DP=878;ExcessHet=0.0000;FS=0.768;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.97;MQRankSum=1.09;QD=15.01;ReadPosRankSum=1.43;SOR=0.827	GT:AD:DP:GQ:PL	0/0:64,0:64:99:0,120,1800	20	0	1	0
chr16	81061439	81061439	G	T	exonic	C16orf46	.	nonsynonymous SNV	C16orf46:NM_001100873:exon3:c.C910A:p.L304M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.992	D	0.000	D	0.849	N	1.75	L	2.14	T	-1.029	T	0.096	T	0.599	2.344	13.80	4.52	2.596	2.095	7.073	0.117	0.0149655935811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.992	0.80445	D	0.000281	0.46590	D	0.000000	0.849471	0.28517	N	2.08	0.57402	M	2.14	0.19450	T	-2.0	0.46146	N	0.391	0.43223	-1.0286	0.20908	T	0.096	0.36107	T	10	0.30590248	0.48104	T	0.014966	0.35426	T	0.117	0.32689	0.323	0.30387	0.148003135375	0.14442	0.09508413179397772	0.09440	0.103124469384	0.11663	.	.	.	0.044255	0.26758	T	-0.0535268	0.43909	T	-0.314664	0.43157	T	0.944792091846466	0.62133	D	0.687731	0.29668	T	0.3958964	0.60447	0.26194072	0.51979	0.3958964	0.60448	0.26194072	0.51978	-5.646	0.43408	T	.	.	0.254	0.48887	B	.;.	.;.	3.113723	0.42013	21.5	0.99463188048261997	0.65892	0.79266	0.39246	D	AEFBI	0.148983	0.27298	N	0.475874018731854	0.65685	4.853643	0.414637318862741	0.62474	4.46362	0.996667912761987	0.34909	0.653281	0.48532	0	0.588015	0.36545	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.53	4.52	0.54797	2.264000	0.42959	4.519000	0.43679	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.339000	0.25409	0.0902:0.1753:0.7345:0.0	7.073	0.24368	673	0.60677	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2491.98	135	chr16	81061439	.	G	T	2491.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.700e-02;DP=1728;ExcessHet=0.0000;FS=2.227;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.32;ReadPosRankSum=-7.510e-01;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:160,0:160:99:.:.:0,120,1800	20	0	1	0
chr16	81061441	81061441	A	T	exonic	C16orf46	.	nonsynonymous SNV	C16orf46:NM_001100873:exon3:c.T908A:p.L303H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.875	P	0.446	N	0.972	N	1.65	L	2.38	T	-1.061	T	0.070	T	0.433	2.357	13.84	3.23	0.368	2.966	5.647	0.113	0.0161443380966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.008	0.67890	D	0.999	0.77913	D	0.875	0.62107	P	0.446118	0.12566	N	0.710974	0.971681	0.25640	N	1.895	0.50365	L	2.38	0.15843	T	-5.2	0.83695	D	0.585	0.60579	-1.0613	0.11434	T	0.070	0.28511	T	10	0.52032614	0.62605	D	0.016144	0.37248	T	0.113	0.31778	0.289	0.24921	0.128392430309	0.12331	0.30701032687120194	0.30614	0.0908555217513	0.10259	.	.	.	0.021368	0.16653	T	-0.113598	0.34176	T	-0.400952	0.33274	T	0.975932478904724	0.71155	D	0.635136	0.24942	T	0.4492165	0.63991	0.5627892	0.74700	0.4492165	0.63992	0.5627892	0.74700	-4.448	0.30203	T	.	.	0.195	0.45136	B	.;.	.;.	2.992933	0.39968	21.1	0.98298527981152239	0.40020	0.87853	0.47537	D	AEFBI	0.155168	0.28031	N	0.200946162962259	0.51245	3.307348	0.114827486015384	0.45305	2.796128	0.98336300462307	0.30547	0.653281	0.48532	0	0.588015	0.36545	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.53	3.23	0.36150	3.080000	0.49810	4.648000	0.44184	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.295000	0.24381	0.7354:0.17:0.0946:0.0	5.647	0.16871	673	0.60677	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2491.98	135	chr16	81061441	.	A	T	2491.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.224e+00;DP=1730;ExcessHet=0.0000;FS=2.227;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.32;ReadPosRankSum=-3.550e-01;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:160,0:160:99:.:.:0,120,1800	20	0	1	0
chr16	81117382	81117382	G	T	exonic	PKD1L2	.	unknown	UNKNOWN,	.	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.389e-05	0	0	0	0	1.532e-05	0	0.0002	2.59e-05	4	154602	rs921590986	3.015e-05	3.078e-05	1.772e-05	4.271e-05	0.0007	2.285e-05	2.035e-05	0.0002	0.0001	0	6.76e-05	0	0	0	0.0007	1.26e-05	6.639e-05	0.0002	1.972e-05	1.97e-05	2.57e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	406.98	35	chr16	81117382	.	G	T	406.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.451;DP=773;ExcessHet=0.0000;FS=2.662;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.27;ReadPosRankSum=1.16;SOR=1.127	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1075	20	0	1	0
chr16	81117404	81117404	C	G	exonic	PKD1L2	.	unknown	UNKNOWN,	.	.	428	1056	37	1	0	39	0.0181311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.00119808	0.0022	0	0.0003	0	0.0003	0.0008	0.0067	0.0121	0.0018176	281	154602	rs201624580	0.0012	0.0012	0.0008	0.0017	0.0126	0.0012	0.0012	0.0119	0.0117	0.0002	0.0002	7.66e-05	5.039e-05	0.0003	0.0045	0.0005	0.0014	0.0126	0.0007	0.0007	0.0006	0.0008	0.0087	0.0006	0.0005	0.0066	0.0059	0.0001	0	0.0002	0	0.0008	0	0	0.0007	0.0014	0.0087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1770.11	35	chr16	81117404	.	C	G	1770.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.344;DP=851;ExcessHet=0.1072;FS=3.952;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=0.275;SOR=0.425	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1075	19	0	2	0
chr16	81117481	81117481	G	T	exonic	PKD1L2	.	unknown	UNKNOWN,	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0005	0.0006	0.0003	0.0003	0	0.0006	0	0.0007	0.0005821	90	154602	rs73601210	0.0006	0.0006	0.0006	0.0006	0.0010	0.0006	0.0006	0.0008	0.0007	0.0010	0.0006	3.831e-05	0.0004	0.0001	0.0002	0.0006	0.0004	0.0010	0.0005	0.0005	0.0006	0.0005	0.0010	0.0004	0.0004	0.0007	0.0005	0.0006	0	0.0010	0	0.0010	9.409e-05	0	0.0004	0.0014	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1196.98	35	chr16	81117481	.	G	T	1196.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=935;ExcessHet=0.0000;FS=3.522;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.88;ReadPosRankSum=1.62;SOR=0.437	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1075	20	0	1	0
chr16	81121700	81121700	C	T	exonic	PKD1L2	.	unknown	UNKNOWN,	.	.	424	1087	11	0	0	11	0.00503432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019	0.0109824	0.0100	0.0063	0.0038	0.0450	0.0516	0.0037	0.0302	0.0030	0.0061966	958	154602	rs75985298	0.0039	0.0039	0.0039	0.0039	0.0405	0.0038	0.0038	0.0387	0.0380	0.0060	0.0024	4.531e-05	0.0405	0.0379	0.0048	0.0013	0.0044	0.0015	0.0073	0.0073	0.0049	0.0097	0.0330	0.0069	0.0068	0.0289	0.0274	0.0048	0.0176	0.0013	0	0.0330	0.0496	0	0.0023	0.0038	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	592.98	35	chr16	81121700	.	C	T	592.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.532;DP=730;ExcessHet=0.0000;FS=1.225;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=1.07;SOR=0.440	GT:AD:DP:GQ:PL	0/0:26,0:26:60:0,60,900	20	0	1	0
chr16	81156877	81156877	G	A	exonic	PKD1L2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.8e-05	0.000199681	5.871e-05	0.0001	0	0	0	3.031e-05	0	0.0002	5.82e-05	9	154602	rs375515044	4.789e-05	4.788e-05	4.493e-05	5.089e-05	0.0002	3.86e-05	3.54e-05	0.0001	0.0001	0.0002	4.473e-05	0	7.557e-05	0	0	3.418e-05	6.626e-05	0.0002	6.566e-05	6.562e-05	5.139e-05	8.058e-05	0.0004	3.514e-05	2.614e-05	7.285e-05	3.046e-05	0.0001	0	6.543e-05	0	0	0	0	2.94e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	721.98	35	chr16	81156877	.	G	A	721.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.877;DP=926;ExcessHet=0.0000;FS=0.912;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.31;ReadPosRankSum=-1.349e+00;SOR=0.864	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1317	20	0	1	0
chr16	81156981	81156981	C	A	exonic	PKD1L2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs970239304	6.842e-07	1.368e-06	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1810.98	35	chr16	81156981	.	C	A	1810.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.098;DP=1027;ExcessHet=0.0000;FS=1.365;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=0.592;SOR=0.544	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1317	20	0	1	0
chr16	81174762	81174762	G	C	exonic	PKD1L2	.	nonsynonymous SNV	PKD1L2:NM_001278423:exon5:c.C681G:p.S227R	.	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.531	P	0.101	B	0.435	N	1.000	N	.	.	5.08	T	-1.015	T	0.042	T	0.449	0.786	8.143	-1.37	0.111	-0.271	0.983	0.017	0.00428553373801	0.0002	0.000599042	7.548e-05	0.0007	0	0	0	0	0	7.799e-05	5.82e-05	9	154602	rs181458928	5.415e-05	5.404e-05	5.59e-05	5.238e-05	0.0006	4.419e-05	4.09e-05	0.0004	0.0003	0.0006	0	7.691e-05	0	0	0.0002	3.242e-05	0	0.0002	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	0.0006	0	6.539e-05	0	0	0	0	1.47e-05	0	0.0004	.	.	.	.	.	.	0.023	0.37720	B	0.014	0.30765	B	0.435442	0.04729	N	1.408380	1	0.08975	N	.	.	.	2.52	0.31987	T	-2.05	0.53420	N	0.172	0.18376	-1.0153	0.25240	T	0.042	0.17910	T	9	0.013562918	0.00287	T	0.004286	0.10373	T	0.062	0.17934	0.229	0.15556	0.0986583533028	0.09354	.	.	5.81669046081E-4	0.00054	0.283741682768	0.08019	T	.	.	.	-0.436889	0.01349	T	-0.483369	0.24088	T	0.016337813809514	0.00403	T	0.534647	0.17878	T	.	.	.	.	.	.	.	.	-4.05	0.27683	T	.	.	0.157	0.43572	B	.;.;.	.;.;.	0.499108	0.08683	5.454	0.8420096727038473	0.15154	0.02393	0.06788	N	AEFDGBHCI	0.046242	0.07655	N	-0.847912648327992	0.12101	0.5878467	-0.954061165600635	0.10829	0.5479561	0.999998797595745	0.74766	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.47	-1.37	0.08582	-0.260000	0.08730	0.067000	0.14209	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.2157:0.1795:0.3742:0.2305	0.983	0.01349	929	0.16858	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1910.98	35	chr16	81174762	.	G	C	1910.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.225e+00;DP=922;ExcessHet=0.0000;FS=0.653;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.75;ReadPosRankSum=0.359;SOR=0.598	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr16	81179767	81179767	G	C	exonic	PKD1L2	.	nonsynonymous SNV	PKD1L2:NM_001278423:exon2:c.C83G:p.A28G	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.882	P	0.677	P	0.113	N	1.000	N	.	.	2.32	T	-1.008	T	0.078	T	0.287	1.663	11.52	0.31	0.177	0.103	6.354	0.022	0.0262516605847	.	.	0.0002	0	0.0005	0	0	0.0002	0.0011	6.063e-05	0.0001294	20	154602	rs200514929	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	9.767e-05	0.0001	0.0001	0	0.0002	3.826e-05	2.519e-05	0	0	0.0001	8.279e-05	1.159e-05	7.226e-05	7.219e-05	7.712e-05	6.718e-05	0.0002	3.97e-05	3.127e-05	4.765e-05	3.339e-05	2.408e-05	0	0.0001	0	0.0002	0	0	0.0001	0	0	.	.	.	.	.	.	0.882	0.48483	P	0.677	0.53365	P	0.113321	0.19321	N	0.521575	0.999959	0.19363	N	.	.	.	2.32	0.69777	T	-2.4	0.59710	N	0.319	0.43029	-1.0084	0.27416	T	0.078	0.31012	T	9	0.08502746	0.14311	T	0.026252	0.49171	D	0.060	0.17295	0.398	0.42590	0.31291088546	0.30898	.	.	7.02292563286E-4	0.00066	0.31681895256	0.12939	T	.	.	.	-0.307718	0.07951	T	-0.386305	0.34985	T	0.199112176895142	0.20367	T	0.634137	0.31835	T	.	.	.	.	.	.	.	.	-3.36	0.14990	T	.	.	0.113	0.28550	B	.;.;.	.;.;.	1.950264	0.24774	16.52	0.99181552073163814	0.54701	0.09083	0.14909	N	AEFBI	0.094092	0.19029	N	-0.682558437291637	0.16519	0.8423356	-0.793673334041623	0.14650	0.7665608	0.800126930643636	0.24171	0.614807	0.35715	0	0.573888	0.26702	0	0.616094	0.41390	0	0.613276	0.41899	0	.	.	5.02	0.31	0.15071	0.213000	0.17310	1.057000	0.23687	-0.119000	0.14319	0.152000	0.23684	0.475000	0.25072	0.034000	0.13613	0.5804:0.0:0.4196:0.0	6.354	0.20598	940	0.13648	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	900.98	35	chr16	81179767	.	G	C	900.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.37;DP=843;ExcessHet=0.0000;FS=2.996;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=-1.063e+00;SOR=1.080	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1285	20	0	1	0
chr16	81194982	81194982	G	T	exonic	PKD1L2	.	nonsynonymous SNV	PKD1L2:NM_001076780:exon8:c.C1587A:p.N529K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.775	P	0.436	B	0.067	N	0.803	N	.	.	5.06	T	-1.033	T	0.045	T	0.226	2.161	13.18	1.91	0.503	1.925	5.237	0.018	0.01520188816	.	0.000798722	0.0001	0	0	0.0014	0	0	0	6.059e-05	0.00011	17	154602	rs144732321	4.173e-05	4.173e-05	4.628e-05	3.713e-05	0.0011	3.31e-05	3.001e-05	0.0008	0.0007	0	0	0	0.0011	0	0	1.799e-06	4.967e-05	0.0002	9.2e-05	9.187e-05	5.143e-05	0.0001	0.0023	5.528e-05	4.365e-05	0.0013	0.0010	0	0	0	0	0.0023	0	0	0	0.0005	0.0002	.	.	.	.	.	.	0.775	0.44108	P	0.436	0.45556	B	0.067290	0.21751	N	0.501983	0.999975	0.18612	N	.	.	.	5.06	0.01260	T	-2.31	0.51319	N	0.609	0.62611	-1.0332	0.19427	T	0.045	0.19316	T	9	0.029540092	0.01080	T	0.015202	0.35793	T	0.049	0.13647	0.262	0.20631	0.30921473904	0.30521	.	.	.	.	0.393960654736	0.24226	T	.	.	.	-0.545447	0.00311	T	-0.622394	0.10998	T	0.129012767310662	0.15290	T	0.673433	0.28201	T	.	.	.	.	.	.	.	.	-6.56	0.50747	T	.	.	0.272	0.50609	B	.	.	2.606860	0.33848	19.46	0.99611584845771795	0.74873	0.80670	0.40248	D	AEFDBI	0.147258	0.27089	N	-0.110998358141838	0.36913	2.140224	-0.136540460900127	0.33931	1.946	2.22554692798315E-5	0.03498	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.09	1.91	0.24841	1.620000	0.36586	3.602000	0.39225	0.660000	0.55035	0.978000	0.35038	0.991000	0.31484	0.134000	0.19723	0.1305:0.1142:0.6378:0.1175	5.237	0.14773	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1444.98	37	chr16	81194982	.	G	T	1444.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.775;DP=870;ExcessHet=0.0000;FS=1.527;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=0.233;SOR=0.524	GT:AD:DP:GQ:PL	0/1:54,57:111:99:1459,0,1311	20	0	1	0
chr16	81262222	81262222	C	T	exonic	BCO1	.	nonsynonymous SNV	BCO1:NM_017429:exon4:c.C410T:p.A137V,	Hypercarotenemia and vitamin A deficiency, autosomal dominant, Autosomal dominant	.	1	1519	2	0	0	2	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.982	D	0.6	P	0.000	N	1.000	D	2.055	M	-4.12	D	0.716	D	0.862	D	0.529	3.400	17.48	3.85	0.807	3.752	12.759	0.578	0.204026905421	0.0002	.	0.0001	0	8.637e-05	0	0.0002	0.0002	0	0.0001	0.0001035	16	154602	rs200428274	9.373e-05	9.44e-05	9.531e-05	9.214e-05	0.0005	8.094e-05	7.586e-05	0.0003	0.0003	5.975e-05	8.945e-05	0	0.0005	5.619e-05	0.0005	7.735e-05	0.0002	9.275e-05	0.0001	0.0001	7.712e-05	0.0002	0.0004	8.167e-05	6.724e-05	0.0001	0.0001	0	0	0	0	0.0004	0	0	0.0002	0	0.0004	0.418	0.10180	T	0.751	0.10930	T	0.769	0.43848	P	0.373	0.43650	B	0.000060	0.53742	N	0.168397	0.999968	0.58761	D	0.96	0.23930	L	-4.12	0.96716	D	0.09	0.24676	N	0.539	0.56662	0.716	0.93374	D	0.862	0.95414	D	10	0.36197662	0.52804	T	0.204027	0.86908	D	0.578	0.82968	.	.	0.78846018172	0.78650	0.8931149454751038	0.89281	0.194470852818	0.21783	0.55470252037	0.46520	T	0.680121	0.90599	D	-0.0315021	0.47200	T	-0.0185987	0.69120	D	0.121600307524204	0.14585	T	0.861914	0.55630	D	0.12858452	0.30056	0.13817926	0.33008	0.13946074	0.32215	0.13791758	0.32951	-3.045	0.10674	T	0.30232274671209736	0.39975	0.262	0.51686	B	.;.	.;.	2.814344	0.37057	20.4	0.99826981126095859	0.90939	0.93899	0.59514	D	AEFDBI	0.465164	0.51335	N	0.117604705754499	0.47284	2.956293	0.0558323432610475	0.42354	2.560354	0.999952737178815	0.48110	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.79	3.85	0.43556	3.852000	0.55642	4.827000	0.45167	0.590000	0.31872	0.998000	0.41325	1.000000	0.68203	0.544000	0.30032	0.0:0.8664:0.0:0.1336	12.759	0.56730	935	0.14827	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1649.98	35	chr16	81262222	.	C	T	1649.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.813;DP=938;ExcessHet=0.0000;FS=1.303;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.38;ReadPosRankSum=-3.370e-01;SOR=0.575	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1235	20	0	1	0
chr16	81365421	81365421	C	T	exonic	GAN	.	nonsynonymous SNV	GAN:NM_001377486:exon8:c.C806T:p.A269V	Giant axonal neuropathy-1, Autosomal recessive	YES	0	1509	13	0	0	13	0.00428901	.	.	260130	Giant_axonal_neuropathy_1|Inborn_genetic_diseases|not_provided|GAN-related_disorder	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850,Orphanet:643|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.51	T	0.0	B	0.0	B	0.003	U	0.999	N	0	N	-0.9	T	-0.928	T	0.122	T	0.032	1.074	9.386	1.92	1.080	1.829	0.394	0.169	0.00698229992254	0.0018	0.000798722	0.0016	0.0003	0.0005	0	0.0006	0.0025	0.0033	0.0009	0.0016106	249	154602	rs146576740	0.0024	0.0024	0.0023	0.0024	0.0066	0.0023	0.0023	0.0049	0.0044	0.0003	0.0008	0.0063	0	0.0006	0.0066	0.0026	0.0025	0.0010	0.0016	0.0016	0.0017	0.0015	0.0029	0.0015	0.0014	0.0025	0.0024	0.0004	0	0.0004	0.0049	0	0.0005	0.0137	0.0029	0.0029	0.0004	.	.	.	0.594	0.08106	T	0.0	0.02946	B	0.0	0.01387	B	0.003040	0.00935	U	6.382080	0.998759	0.21933	N	0	0.06538	N	.	.	.	.	.	.	0.189	0.20660	-0.9280	0.44429	T	0.122	0.42441	T	10	0.005330026	0.00117	T	0.006982	0.18485	T	.	.	.	.	0.578358932345	0.57506	0.1521723545216214	0.15139	0.117023510789	0.13191	0.303755044937	0.10963	T	0.203817	0.56240	T	-0.655028	0.00067	T	-0.719537	0.04818	T	0.00949088217655487	0.00122	T	0.531447	0.17660	T	0.02507069	0.01405	0.05703459	0.10296	0.02507069	0.01404	0.05703459	0.10296	-3.859	0.21689	T	.	.	0.059	0.00847	B	.;.	.;.	2.314733	0.29634	18.18	0.91099192627316949	0.20352	0.61644	0.31545	D	AEFGBI	0.068096	0.13418	N	-0.712853772984774	0.15660	0.7911482	-0.526383153771703	0.21437	1.159715	0.948983700656583	0.27825	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.69	1.92	0.24912	0.796000	0.26646	3.573000	0.39130	-0.167000	0.11441	0.997000	0.40164	1.000000	0.68203	0.860000	0.40782	0.2989:0.1644:0.137:0.3997	0.394	0.00386	850	0.35610	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1883.98	44	chr16	81365421	.	C	T	1883.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.346e+00;DP=1000;ExcessHet=0.0000;FS=5.835;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=-3.710e-01;SOR=0.622	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,111,1665	20	0	1	0
chr16	81912673	81912673	A	G	exonic	PLCG2	.	nonsynonymous SNV	PLCG2:NM_002661:exon19:c.A2011G:p.I671V,	Autoinflammation, antibody deficiency, and immune dysregulation syndrome, Autosomal dominant;Familial cold autoinflammatory syndrome 3, Autosomal dominant	.	3	1438	76	5	0	86	0.0290344	.	.	433831	not_provided|Familial_cold_autoinflammatory_syndrome_3	MedGen:C3661900|MONDO:MONDO:0013766,MedGen:C3280914,OMIM:614468,Orphanet:300359	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.000	N	1.000	D	-0.34	N	-2.54	D	-0.711	T	0.248	T	0.16	-0.417	2.054	4.01	0.809	3.139	9.248	0.306	.	0.0018	0.00499201	0.0061	0.0002	0.0017	0	0.0002	0.0043	0.0054	0.0277	0.0050193	776	154602	rs150833842	0.0036	0.0036	0.0029	0.0043	0.0249	0.0035	0.0035	0.0240	0.0237	0.0007	0.0021	0.0090	2.521e-05	0.0011	0.0210	0.0021	0.0049	0.0249	0.0023	0.0023	0.0020	0.0026	0.0228	0.0021	0.0020	0.0194	0.0181	0.0006	0	0.0016	0.0046	0	0.0007	0.0170	0.0023	0.0028	0.0228	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.000000	0.84330	N	0.046780	0.999998	0.58761	D	-0.83	0.01527	N	-2.54	0.89496	D	0.39	0.03521	N	0.273	0.30914	-0.7113	0.59888	T	0.248	0.61774	T	10	0.014680892	0.00308	T	.	.	.	0.306	0.62729	.	.	0.458321483586	0.45457	0.3605344681693968	0.35967	0.233159527858	0.25850	0.529252409935	0.42928	T	0.372621	0.73677	T	-0.365975	0.03803	T	-0.27955	0.46849	T	0.00681991507380742	0.00077	T	0.828817	0.49341	T	0.09416458	0.22132	0.059568785	0.11203	0.06277723	0.13149	0.060827643	0.11646	-4.007	0.23909	T	.	.	0.136	0.35767	B	.;.	.;.	1.439151	0.18583	13.82	0.45145866147430147	0.03522	0.86997	0.46408	D	AEFDBCI	0.420339	0.48720	N	-0.632609026884171	0.17970	0.9292605	-0.410543867457214	0.24687	1.353322	0.999848504764815	0.43971	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.11	4.01	0.45821	3.139000	0.50273	2.718000	0.34289	0.668000	0.69082	0.994000	0.38300	0.980000	0.30356	0.583000	0.30967	0.9082:0.0:0.0918:0.0	9.248	0.36697	929	0.16858	SH2 domain|SH2 domain|SH2 domain|SH2 domain|PLC-gamma, C-terminal SH2 domain;SH2 domain|SH2 domain|SH2 domain|SH2 domain|PLC-gamma, C-terminal SH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	983.98	34	chr16	81912673	.	A	G	983.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.668;DP=799;ExcessHet=0.0000;FS=1.762;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=0.082;SOR=0.728	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1004	20	0	1	0
chr16	82000021	82000021	T	C	exonic	SDR42E1	.	nonsynonymous SNV	SDR42E1:NM_145168:exon3:c.A272G:p.N91S,	.	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.006	B	0.02	B	0.000	D	1.000	N	1.155	L	-2.41	D	-0.678	T	0.343	T	0.014	0.447	6.427	4.94	1.098	4.280	11.555	0.239	.	0.0044	0.00459265	0.0020	0.0146	0.0029	0.0001	0.0003	0.0009	0.0022	0.0002	0.0019146	296	154602	rs79313103	0.0012	0.0012	0.0012	0.0011	0.0181	0.0011	0.0011	0.0169	0.0165	0.0181	0.0033	0.0055	2.519e-05	0.0003	0.0066	0.0005	0.0030	0.0001	0.0057	0.0057	0.0060	0.0054	0.0160	0.0054	0.0053	0.0150	0.0146	0.0160	0	0.0073	0.0072	0	0.0004	0.0102	0.0007	0.0071	0	0.139	0.33091	T	0.275	0.22016	T	0.006	0.13644	B	0.02	0.19048	B	0.000080	0.52346	D	0.225487	0.999905	0.19694	N	1.885	0.50048	L	-2.41	0.88533	D	-1.91	0.47175	N	0.062	0.03392	-0.6782	0.61455	T	0.343	0.70843	T	10	0.0069989264	0.00159	T	.	.	.	0.239	0.54358	.	.	0.364730456448	0.36084	0.5958075380053698	0.59510	0.0114236664784	0.01068	0.317947089672	0.13110	T	0.208635	0.56862	T	-0.485443	0.00688	T	-0.455145	0.27130	T	0.0153251652716049	0.00340	T	0.756924	0.38041	T	0.09818314	0.23154	0.11784837	0.28449	0.09818314	0.23154	0.11784837	0.28448	-7.161	0.55201	T	.	.	0.113	0.28778	B	.;.	.;.	1.363034	0.17722	13.33	0.69502512600294497	0.08993	0.90864	0.52405	D	AEFBI	0.599152	0.59228	D	-0.624253367961302	0.18218	0.9440396	-0.526098963487115	0.21445	1.160176	0.99898592575635	0.38135	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	6.03	4.94	0.64645	4.260000	0.58633	2.880000	0.35323	-0.723000	0.03784	1.000000	0.71638	0.859000	0.27469	0.013000	0.09966	0.0:0.0694:0.0:0.9306	11.555	0.49995	934	0.15400	3-beta hydroxysteroid dehydrogenase/isomerase;3-beta hydroxysteroid dehydrogenase/isomerase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2129.98	41	chr16	82000021	.	T	C	2129.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=921;ExcessHet=0.0000;FS=0.528;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.54;ReadPosRankSum=1.31;SOR=0.616	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1093	20	0	1	0
chr16	82627118	82627118	T	C	exonic	CDH13	.	nonsynonymous SNV	CDH13:NM_001220488:exon1:c.T61C:p.C21R	.	.	402	1118	2	0	0	2	0.000893655	.	.	2225751	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.994	D	0.879	P	.	.	1.000	D	0.695	N	0.53	T	-0.617	T	0.231	T	0.813	3.847	19.54	5.53	2.099	5.172	14.848	0.159	0.0556458663432	.	.	6.879e-05	0	0.0002	0	0	9.455e-05	0	0	3.88e-05	6	154602	rs773242003	2.543e-05	2.668e-05	2.596e-05	2.49e-05	0.0025	1.877e-05	1.638e-05	0.0015	0.0012	2.998e-05	2.276e-05	0	0	0	0.0025	1.713e-05	3.33e-05	0	5.251e-05	5.249e-05	5.138e-05	5.369e-05	7.213e-05	2.555e-05	1.828e-05	1.913e-05	1.03e-05	7.213e-05	0	0	0	0	0	0.0068	2.94e-05	0.0005	0	0.027	0.46910	D	0.0	0.92824	D	0.984	0.60733	D	0.601	0.50808	P	.	.	.	.	0.999873	0.50225	D	0.695	0.17993	N	0.53	0.61443	T	-2.18	0.74980	N	0.829	0.98368	-0.6165	0.64134	T	0.231	0.59732	T	9	0.7571428	0.76068	D	0.055646	0.66311	D	0.277	0.59375	.	.	0.860802837983	0.85945	.	.	.	.	.	.	.	0.238383	0.60626	T	-0.109583	0.34838	T	-0.229328	0.51836	T	0.292701353447085	0.24702	T	0.725627	0.33984	T	0.6380242	0.74725	0.6594499	0.80050	0.6380242	0.74726	0.6594499	0.80051	-6.617	0.53932	T	.	.	0.129	0.56908	B	.;.;.;.;.	.;.;.;.;.	5.287584	0.88783	29.7	0.99775020639736012	0.86260	0.80561	0.40166	D	AEFDBHCIJ	0.884705	0.81461	D	0.426748373626869	0.62898	4.513	0.488484172131351	0.67226	5.055652	0.999999999983451	0.74766	0.652421	0.48094	0	0.563428	0.19063	0	0.64067	0.45733	0	0.56214	0.19341	0	.	.	5.53	5.53	0.82530	5.506000	0.66713	7.810000	0.69404	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	14.848	0.69911	985	0.02828	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	776.98	35	chr16	82627118	.	T	C	776.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.883e+00;DP=794;ExcessHet=0.0000;FS=1.708;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.45;ReadPosRankSum=0.288;SOR=0.924	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1118	20	0	1	0
chr16	83899350	83899350	C	T	exonic	MLYCD	.	nonsynonymous SNV	MLYCD:NM_012213:exon1:c.C206T:p.A69V,	Malonyl-CoA decarboxylase deficiency, Autosomal recessive	.	0	1504	18	0	0	18	0.00594845	.	.	247120	Deficiency_of_malonyl-CoA_decarboxylase|MLYCD-related_disorder|not_specified|not_provided	MONDO:MONDO:0009556,MedGen:C0342793,OMIM:248360,Orphanet:943|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.37	T	0.685	P	0.036	B	0.001	N	0.971	D	1.935	M	-3.42	D	0.453	D	0.705	D	0.767	3.401	17.48	4.25	2.075	2.328	15.997	0.590	.	0.0032	0.000798722	0.0075	0	0.0185	0	0	0.0203	0	0.0001	0.0033247	514	154602	rs200579941	0.0034	0.0033	0.0034	0.0033	0.0044	0.0033	0.0032	0.0032	0.0031	0.0006	0.0024	0.0284	0	0.0003	0.0044	0.0033	0.0044	0.0003	0.0028	0.0028	0.0030	0.0026	0.0037	0.0026	0.0025	0.0033	0.0032	0.0006	0.0066	0.0017	0.0289	0	0.0005	0.0103	0.0037	0.0033	0.0002	0.168	0.23007	T	0.595	0.08079	T	0.685	0.41537	P	0.036	0.22909	B	0.001493	0.38855	N	0.244160	0.97088	0.38830	D	1.95	0.52479	M	-3.42	0.94348	D	-0.47	0.15178	N	0.778	0.77507	0.453	0.89877	D	0.705	0.89856	D	10	0.0071632266	0.00163	T	.	.	.	0.590	0.83636	.	.	0.936542578583	0.93588	0.2616706831724817	0.26080	1.20683058914	0.80723	0.912121415138	0.97667	D	0.100087	0.40554	T	0.0336871	0.56213	T	0.272562	0.86715	D	0.0523209546592648	0.05903	T	0.525947	0.17303	T	0.098773204	0.23301	0.15823261	0.36960	0.09376129	0.22029	0.18244977	0.41172	-5.555	0.42379	T	0.09975837277396712	0.07282	0.108	0.20625	B	.	.	3.090124	0.41606	21.4	0.99631057744544682	0.76020	0.77110	0.37878	D	AEFDBHCIJ	0.177773	0.30502	N	0.0155385130390293	0.42563	2.566802	0.0765228260236064	0.43369	2.640208	0.999999999999941	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.25	4.25	0.49658	1.861000	0.39078	4.381000	0.43181	0.437000	0.21030	0.980000	0.35271	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	15.997	0.80055	951	0.11083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1626.98	39	chr16	83899350	.	C	T	1626.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.401e+00;DP=843;ExcessHet=0.0000;FS=4.401;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=-3.750e-01;SOR=0.403	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1239	20	0	1	0
chr16	83961068	83961068	C	G	exonic	OSGIN1	.	nonsynonymous SNV	OSGIN1:NM_182981:exon5:c.C484G:p.R162G,	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.031	B	0.019	B	0.001	N	0.731	N	2.305	M	1.99	T	-1.053	T	0.046	T	0.581	2.342	13.79	-0.579	0.297	1.652	4.135	0.138	0.0353753578095	7.7e-05	0.000599042	0.0003	9.758e-05	0.0003	0	0	0.0003	0	0.0005	0.0002329	36	154602	rs147759145	0.0002	0.0002	0.0001	0.0002	0.0026	0.0001	0.0001	0.0016	0.0013	2.988e-05	0.0005	0	0	0	0.0026	0.0001	0.0003	0.0004	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.697e-05	0.0001	9.897e-05	4.814e-05	0	0.0003	0	0	0	0.0068	0.0002	0.0009	0.0002	0.113	0.32769	T	0.096	0.65728	T	0.031	0.20130	B	0.019	0.18783	B	0.001152	0.40056	N	0.200428	0.730881	0.29831	N	2.71	0.79292	M	1.99	0.49358	T	-3.72	0.70793	D	0.634	0.64733	-1.0529	0.13601	T	0.046	0.19680	T	10	0.1428105	0.27121	T	0.035375	0.56304	D	0.138	0.37187	.	.	0.581788271231	0.57850	0.40161305084241133	0.40077	0.159160048467	0.17961	0.351295232773	0.18113	T	0.122288	0.44585	T	-0.308161	0.07911	T	-0.321847	0.42372	T	0.115228168114154	0.13958	T	0.819918	0.47811	T	0.1909952	0.40708	0.17862082	0.40543	0.1909952	0.40708	0.17862082	0.40542	.	.	.	.	.	0.139	0.30344	B	.;.;.;.	.;.;.;.	2.893184	0.38319	20.7	0.99478206886139098	0.66741	0.89270	0.49634	D	AEFBCI	0.692799	0.65234	D	-0.319537072846592	0.28407	1.566543	-0.287786972846428	0.28500	1.58955	0.769432950252865	0.23646	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.53	-0.579	0.11133	1.681000	0.37234	-0.114000	0.11796	0.544000	0.25403	1.000000	0.71638	0.002000	0.18203	0.988000	0.63387	0.532:0.2446:0.0:0.2234	4.135	0.09634	912	0.21483	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	839.98	36	chr16	83961068	.	C	G	839.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.50;DP=842;ExcessHet=0.0000;FS=4.746;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=0.604;SOR=1.302	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr16	83990523	83990523	G	T	exonic	NECAB2	.	nonsynonymous SNV	NECAB2:NM_001329749:exon5:c.G240T:p.Q80H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.936	D	0.000	D	1.000	D	2.71	M	1.52	T	-0.687	T	0.195	T	0.864	3.613	18.39	5.14	2.388	4.991	11.121	0.397	0.0832055952155	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1420451616	1.368e-06	2.052e-06	0	2.75e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.92824	D	0.998	0.73220	D	0.936	0.67150	D	0.000004	0.62929	D	0.063428	0.99973	0.51042	D	3.02	0.86243	M	1.52	0.36691	T	-4.44	0.79998	D	0.932	0.93723	-0.6867	0.61062	T	0.195	0.54869	T	10	0.8613769	0.85359	D	0.083206	0.74066	D	0.397	0.71163	0.809	0.92581	0.220303561663	0.21668	0.6954736510121862	0.69488	.	.	0.719699144363	0.70003	T	0.473209	0.80516	T	0.157238	0.69944	D	0.0849393	0.75908	D	0.993318676948547	0.84065	D	0.921708	0.81464	D	0.7128583	0.78765	0.5947352	0.76474	0.7128583	0.78766	0.5947352	0.76475	-8.471	0.64237	D	.	.	0.833	0.82857	P	.;.;.	.;.;.	3.805460	0.54855	23.5	0.9972068374597669	0.82054	0.91895	0.54496	D	AEFBCI	0.798229	0.72483	D	0.704825141613731	0.79949	7.187138	0.637292015448706	0.77667	6.723751	0.997398647392565	0.35572	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.14	5.14	0.70008	4.321000	0.58999	5.836000	0.50206	0.645000	0.52629	1.000000	0.71638	1.000000	0.68203	0.905000	0.44082	0.0849:0.0:0.9151:0.0	11.121	0.47513	958	0.09170	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1540.98	36	chr16	83990523	.	G	T	1540.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.070e+00;DP=838;ExcessHet=0.0000;FS=2.465;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.14;ReadPosRankSum=-7.790e-01;SOR=0.497	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,109,1256	20	0	1	0
chr16	84016654	84016654	C	G	exonic	SLC38A8	.	nonsynonymous SNV	SLC38A8:NM_001080442:exon9:c.G1027C:p.G343R,	Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, Autosomal recessive	.	412	1066	43	1	0	45	0.0206706	.	.	715113	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.58	T	0.996	D	0.843	P	0.001	D	0.977	D	1.39	L	4.44	T	-0.767	T	0.015	T	0.422	0.540	6.925	4.36	1.979	2.420	13.809	0.123	.	0.0015	0.00339457	0.0035	0.0004	0.0014	0	0.0002	0.0022	0.0045	0.0153	0.0030595	473	154602	rs113733057	0.0021	0.0021	0.0017	0.0026	0.0156	0.0021	0.0021	0.0143	0.0140	0.0004	0.0022	0.0243	0	1.885e-05	0.0156	0.0007	0.0039	0.0150	0.0020	0.0020	0.0018	0.0022	0.0124	0.0018	0.0018	0.0099	0.0090	0.0002	0	0.0039	0.0277	0	0	0.0068	0.0011	0.0033	0.0124	0.734	0.03764	T	0.857	0.03438	T	0.996	0.68779	D	0.843	0.60313	P	0.000626	0.42799	D	0.230494	0.976678	0.39297	D	1.26	0.31868	L	4.44	0.02139	T	0.88	0.01664	N	0.37	0.41162	-0.7667	0.57038	T	0.015	0.05801	T	10	0.0037727654	0.00070	T	.	.	.	0.123	0.34020	0.66	0.79791	0.218845423259	0.21516	0.8221951370456168	0.82176	.	.	0.434606850147	0.29839	T	0.016134	0.13395	T	-0.520904	0.00435	T	-0.508045	0.21517	T	0.0975460260413821	0.12084	T	0.794521	0.43681	T	0.12277327	0.28842	0.13418183	0.32159	0.14010163	0.32336	0.115680836	0.27924	-4.401	0.29571	T	0.19463165127106835	0.25652	0.128	0.27222	B	.	.	1.995967	0.25356	16.73	0.38185314514478214	0.02560	0.87881	0.47576	D	AEFDBI	0.629820	0.61140	D	0.123578966064112	0.47564	2.980404	0.0727503778097324	0.43184	2.625443	0.999998857313412	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.36	4.36	0.51643	2.625000	0.46117	1.737000	0.28371	0.535000	0.24933	0.062000	0.21832	0.265000	0.24010	0.035000	0.13729	0.0:1.0:0.0:0.0	13.809	0.62741	940	0.13648	Amino acid transporter, transmembrane domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1681.98	34	chr16	84016654	.	C	G	1681.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.710e-01;DP=875;ExcessHet=0.0000;FS=2.313;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=-1.159e+00;SOR=0.496	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,111,1665	20	0	1	0
chr16	84031871	84031871	G	C	exonic	SLC38A8	.	nonsynonymous SNV	SLC38A8:NM_001080442:exon5:c.C628G:p.L210V,	Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	703852	not_specified|Inborn_genetic_diseases|not_provided	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.72	T	0.267	B	0.079	B	0.962	N	1.000	N	0.755	N	4.46	T	-0.915	T	0.004	T	0.304	0.266	5.438	1.95	0.622	0.076	5.626	0.010	0.0115007150176	0.0032	0.00259585	0.0007	0.0080	0.0004	0	0	0	0	6.075e-05	0.0007438	115	154602	rs150844985	0.0003	0.0003	0.0003	0.0003	0.0101	0.0003	0.0003	0.0092	0.0088	0.0101	0.0007	0	0	0	0	1.979e-05	0.0006	1.159e-05	0.0030	0.0030	0.0032	0.0027	0.0101	0.0027	0.0026	0.0093	0.0090	0.0101	0	0.0015	0	0	0	0	1.47e-05	0.0024	0	0.298	0.14595	T	0.455	0.13290	T	0.267	0.31683	B	0.079	0.28749	B	0.961848	0.07723	N	1.018260	1	0.08975	N	0.715	0.18665	N	4.46	0.02102	T	-0.3	0.11913	N	0.106	0.09066	-0.9149	0.46233	T	0.004	0.01261	T	10	0.0037952065	0.00071	T	0.011501	0.29187	T	0.010	0.01040	.	.	0.0297737177859	0.01360	0.4746061573655218	0.47379	.	.	0.24438226223	0.03199	T	0.012531	0.11001	T	-0.588497	0.00171	T	-0.608717	0.12089	T	0.00232634529090743	0.00024	T	0.283372	0.04986	T	0.040815856	0.05896	0.03209017	0.01891	0.031682845	0.03053	0.032478876	0.01990	-2.068	0.03449	T	0.0990893563002328	0.07159	0.065	0.01834	B	.;.	.;.	0.058806	0.04704	1.342	0.54843475667351527	0.05219	0.12339	0.17208	N	AEFDBI	0.154318	0.27932	N	-1.08579302513278	0.06905	0.3191828	-1.0920565506793	0.07855	0.3838342	0.0281021541431992	0.13812	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	5.09	1.95	0.25130	0.101000	0.15088	1.133000	0.24342	-0.814000	0.03034	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.2454:0.146:0.6086:0.0	5.626	0.16759	946	0.12043	Amino acid transporter, transmembrane domain;Amino acid transporter, transmembrane domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1006.98	34	chr16	84031871	.	G	C	1006.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.030e-01;DP=811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.91;ReadPosRankSum=-1.580e-01;SOR=0.676	GT:AD:DP:GQ:PL	0/1:68,45:113:99:1021,0,1711	20	0	1	0
chr16	84063416	84063416	C	G	exonic	MBTPS1	.	nonsynonymous SNV	MBTPS1:NM_003791:exon19:c.G2461C:p.V821L,	.	.	.	.	.	.	.	.	.	.	.	1567957	MBTPS1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.35	T	0.0	B	0.001	B	0.002	N	0.983	D	0.425	N	1.54	T	-1.062	T	0.026	T	0.074	1.403	10.63	2.36	0.335	0.019	4.550	0.034	0.00773975078223	0.0031	0.00299521	0.0008	0.0085	0.0005	0	0	4.504e-05	0	6.07e-05	0.000815	126	154602	rs35417190	0.0004	0.0004	0.0004	0.0003	0.0109	0.0003	0.0003	0.0100	0.0096	0.0109	0.0007	0	0	0	0.0002	7.644e-05	0.0009	1.159e-05	0.0033	0.0033	0.0035	0.0030	0.0109	0.0030	0.0029	0.0101	0.0098	0.0109	0	0.0023	0	0	0	0.0136	2.94e-05	0.0019	0	0.35	0.12305	T	0.372	0.16376	T	0.0	0.02946	B	0.001	0.04355	B	0.002176	0.37095	N	0.294067	0.983105	0.39973	D	0.665	0.16292	N	1.54	0.30133	T	-0.94	0.25118	N	0.307	0.34659	-1.0617	0.11336	T	0.026	0.10954	T	10	0.005384207	0.00118	T	0.00774	0.20536	T	0.034	0.08419	.	.	0.270447802918	0.26645	0.6253496982064026	0.62467	0.0420367595804	0.04521	0.369697272778	0.20788	T	0.249448	0.61941	T	-0.660474	0.00062	T	-0.712106	0.05188	T	0.00303780445370033	0.00032	T	0.839116	0.51273	T	0.048470594	0.08453	0.045169502	0.06017	0.048470594	0.08452	0.045169502	0.06017	-4.942	0.36204	T	.	.	0.084	0.09627	B	.	.	0.822295	0.11937	8.497	0.93265887461013086	0.22962	0.44572	0.27347	N	AEFDGBCI	0.303825	0.41169	N	-0.832087676222166	0.12495	0.6094146	-0.75716434591174	0.15546	0.8181539	0.999883753233449	0.44867	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.723	0.93126	0	.	.	5.44	2.36	0.28258	0.031000	0.13598	-0.097000	0.11987	0.549000	0.26987	0.002000	0.15269	0.000000	0.08366	0.994000	0.71098	0.2657:0.5222:0.0:0.2121	4.550	0.11509	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	741.98	34	chr16	84063416	.	C	G	741.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.110e-01;DP=776;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.31;ReadPosRankSum=-8.840e-01;SOR=0.797	GT:AD:DP:GQ:PL	0/1:43,29:72:99:756,0,1210	20	0	1	0
chr16	84170033	84170033	A	T	exonic	DNAAF1	.	nonsynonymous SNV	DNAAF1:NM_001318756:exon4:c.A497T:p.E166V	Ciliary dyskinesia, primary, 13, Autosomal recessive	.	0	1513	9	0	0	9	0.0029654	.	.	390185	not_specified|not_provided|Primary_ciliary_dyskinesia_13|Primary_ciliary_dyskinesia	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013174,MedGen:C2750790,OMIM:613193,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.42	B	0.099	B	.	.	1.000	N	0.69	N	1.76	T	-1.047	T	0.046	T	0.138	0.867	8.513	0.495	-0.109	-0.203	3.175	0.004	0.00418844892986	0.0002	0.000399361	0.0002	0	8.639e-05	0	0	0.0003	0.0011	0.0001	0.000194	30	154602	rs144034147	0.0002	0.0002	0.0002	0.0003	0.0078	0.0002	0.0002	0.0060	0.0053	0.0002	0.0001	0	0	0	0.0078	0.0002	0.0004	8.116e-05	0.0001	0.0001	0.0002	0.0001	0.0002	9.735e-05	8.25e-05	9.047e-05	7.011e-05	0.0002	0	6.537e-05	0	0	0	0.0102	0.0002	0	0	0.229	0.18371	T	0.107	0.37730	T	0.025	0.19245	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	1.76	0.25996	T	-0.45	0.14782	N	0.084	0.06059	-1.0472	0.15188	T	0.046	0.19559	T	9	0.023021698	0.00591	T	0.004188	0.10089	T	0.004	0.00165	.	.	0.154104182512	0.14974	0.2278481962685289	0.22699	0.0234709133917	0.02381	0.279656559229	0.07444	T	0.012092	0.10690	T	-0.511076	0.00495	T	-0.675709	0.07248	T	0.0212065927291558	0.00822	T	0.409559	0.10569	T	0.06297476	0.13212	0.031021196	0.01634	0.06297476	0.13212	0.031021196	0.01634	-7.195	0.55445	T	.	.	0.121	0.25067	B	.	.	0.371090	0.07432	4.066	0.82785107948828141	0.14374	0.04592	0.10244	N	AEFBHI	0.067366	0.13238	N	-0.996148576383303	0.08685	0.4081874	-1.06213278813619	0.08455	0.4158453	0.961543103774874	0.28561	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.15	0.495	0.16098	-0.199000	0.09493	0.393000	0.17912	0.559000	0.28343	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.6381:0.0:0.1669:0.1949	3.175	0.06174	712	0.56465	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	2521.98	36	chr16	84170033	.	A	T	2521.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.572;DP=1389;ExcessHet=0.0000;FS=2.805;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.06;ReadPosRankSum=0.523;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485	20	0	1	0
chr16	84170046	84170046	G	C	exonic	DNAAF1	.	nonsynonymous SNV	DNAAF1:NM_001318756:exon4:c.G510C:p.E170D	Ciliary dyskinesia, primary, 13, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.99	D	0.717	P	.	.	1.000	N	0.69	N	1.78	T	-1.027	T	0.068	T	0.116	1.049	9.284	-4.71	-0.734	-0.502	5.872	0.090	0.00169098102216	.	.	.	.	.	.	.	.	.	.	.	.	.	rs374207885	1.368e-06	1.368e-06	0	2.751e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.38633	T	0.085	0.41074	T	0.123	0.26785	B	0.023	0.19966	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	1.78	0.25678	T	-0.58	0.17417	N	0.093	0.07262	-1.0273	0.21331	T	0.068	0.27980	T	9	0.051308513	0.04993	T	0.001691	0.02805	T	0.090	0.26093	0.124	0.03018	0.128392430309	0.12331	0.08862072431069294	0.08795	0.0691553235387	0.07740	0.284771025181	0.08167	T	0.00646	0.05891	T	-0.387232	0.02803	T	-0.697154	0.05983	T	0.165836989879608	0.18293	T	0.480052	0.14488	T	0.039921127	0.05602	0.048689857	0.07286	0.039921127	0.05602	0.048689857	0.07286	-7.287	0.56103	T	.	.	0.102	0.18122	B	.	.	0.490009	0.08593	5.360	0.93912826612701183	0.23949	0.03106	0.08040	N	AEFBHI	0.059485	0.11238	N	-1.00580122513362	0.08482	0.3978975	-1.18265214631311	0.06199	0.2976467	0.948596240891713	0.27807	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.9	-4.71	0.03042	-0.479000	0.06647	-2.556000	0.03613	-1.328000	0.01220	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3408:0.4712:0.188:0.0	5.872	0.18055	712	0.56465	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	576.98	36	chr16	84170046	.	G	C	576.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.690e-01;DP=1371;ExcessHet=0.0000;FS=6.905;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.13;ReadPosRankSum=-1.629e+00;SOR=1.578	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr16	84191362	84191367	GCCCGC	-	exonic	ADAD2	.	nonframeshift deletion	ADAD2:NM_001145400:exon1:c.132_137del:p.P49_A50del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0.0008	0	0	0.0002	0	0.0017	0.0003363	52	154602	rs745979380	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0002	0.0012	0.0011	0	0.0007	0	5.229e-05	0	0.0017	0.0001	0.0004	0.0014	0.0003	0.0003	0.0002	0.0003	0.0017	0.0002	0.0002	0.0008	0.0006	0	0	0.0006	0	0.0002	0	0	0.0003	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	9312.79	48	chr16	84191361	.	GGCCCGC	AGCCCGC,G	9312.79	.	AC=12,1;AF=0.286,0.024;AN=42;BaseQRankSum=0.595;DP=904;ExcessHet=0.2231;FS=3.336;InbreedingCoeff=0.2202;MLEAC=12,1;MLEAF=0.286,0.024;MQ=60.00;MQRankSum=0.00;QD=18.12;ReadPosRankSum=-4.400e-02;SOR=0.756	GT:AD:DP:GQ:PL	0/0:24,0,0:24:72:0,72,770,72,770,770	11	2	7	0
chr16	84194126	84194126	A	G	exonic	ADAD2	.	nonsynonymous SNV	ADAD2:NM_139174:exon2:c.A539G:p.D180G,	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.002	B	0.0	B	0.000	N	1.000	N	0	N	2.05	T	-1.053	T	0.023	T	0.068	0.971	8.964	-3.24	-1.539	-0.060	0.512	0.048	0.00138870895426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.20683	T	0.749	0.04825	T	0.002	0.09854	B	0.0	0.01387	B	0.000131	0.00470	N	6.513580	1	0.08975	N	.	.	.	2.05	0.20664	T	0.04	0.06488	N	0.175	0.18784	-1.0529	0.13601	T	0.023	0.09968	T	10	0.04696226	0.03953	T	0.001389	0.02037	T	0.048	0.13305	0.369	0.37850	0.0884992946249	0.08302	0.18615649959913896	0.18533	.	.	.	.	.	.	.	.	-0.311993	0.07574	T	-0.685933	0.06627	T	0.701481103897095	0.40789	D	0.440756	0.12177	T	.	.	.	.	.	.	.	.	-2.212	0.04098	T	.	.	0.109	0.20702	B	.	.	0.418987	0.07896	4.600	0.97055413144714098	0.32171	0.01556	0.05095	N	AEFDBI	0.044074	0.07047	N	-1.36069159699632	0.03015	0.1340482	-1.46157957120298	0.02667	0.1230814	0.999995944784799	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.62	-3.24	0.04779	-0.183000	0.09707	-0.335000	0.09860	0.686000	0.82685	0.000000	0.06391	0.000000	0.08366	0.049000	0.15107	0.2585:0.2088:0.3259:0.2069	0.512	0.00558	749	0.51929	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1954.98	41	chr16	84194126	.	A	G	1954.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.890e-01;DP=835;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.15;ReadPosRankSum=0.097;SOR=0.712	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1284	20	0	1	0
chr16	84222522	84222522	C	T	exonic	KCNG4	.	nonsynonymous SNV	KCNG4:NM_172347:exon3:c.G1255A:p.V419M,	.	.	428	1062	29	3	0	35	0.0162112	.	.	703853	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.72	H	-4.82	D	0.900	D	0.967	D	0.964	4.691	26.0	5.61	2.631	7.818	18.627	0.946	.	0.0051	0.00479233	0.0074	0.0010	0.0023	0.0002	0.0083	0.0083	0.0169	0.0144	0.0070568	1091	154602	rs140124801	0.0069	0.0069	0.0066	0.0072	0.0127	0.0068	0.0067	0.0121	0.0118	0.0010	0.0026	0.0078	0.0001	0.0078	0.0125	0.0069	0.0071	0.0127	0.0052	0.0052	0.0052	0.0053	0.0128	0.0049	0.0048	0.0103	0.0093	0.0011	0.0011	0.0020	0.0092	0.0002	0.0070	0.0170	0.0079	0.0043	0.0128	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.105	0.97342	H	-4.82	0.98198	D	-2.82	0.59545	D	0.909	0.91047	0.900	0.95677	D	0.967	0.98951	D	10	0.025790572	0.00762	T	.	.	.	0.946	0.98921	.	.	0.969889004412	0.96956	0.9388897814049336	0.93869	0.30393034706	0.32714	0.793081045151	0.80911	T	0.699471	0.91333	D	0.227836	0.76518	D	0.565525	0.96017	D	0.0628093518879256	0.07604	T	0.942106	0.78341	D	0.86216265	0.88251	0.74613094	0.84994	0.86216265	0.88253	0.74613094	0.84995	-13.769	0.92282	D	.	.	0.844	0.79447	P	.	.	5.302990	0.89027	29.8	0.99916515854583565	0.98449	0.97854	0.77628	D	AEFBI	0.898918	0.84272	D	1.03012714988463	0.96598	14.89462	0.953646783385209	0.97512	16.25638	0.999999999832179	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.61	5.61	0.85347	7.905000	0.86479	7.711000	0.66806	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.860000	0.40782	0.0:1.0:0.0:0.0	18.627	0.91299	804	0.43891	Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1194.98	96	chr16	84222522	.	C	T	1194.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=1303;ExcessHet=0.0000;FS=2.710;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=-4.090e-01;SOR=0.676	GT:AD:DP:GQ:PL	0/0:70,0:70:99:0,120,1800	20	0	1	0
chr16	84236816	84236816	C	T	exonic	KCNG4	.	nonsynonymous SNV	KCNG4:NM_172347:exon2:c.G670A:p.A224T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.78	M	-4.35	D	1.103	D	0.951	D	0.906	5.413	35	5.11	2.364	7.731	17.544	0.900	0.453913000385	7.7e-05	.	5.012e-05	0	0	0.0002	0.0002	3.048e-05	0.0011	0	4.53e-05	7	154602	rs371707569	4.311e-05	4.446e-05	3.268e-05	5.364e-05	0.0004	3.444e-05	3.13e-05	0.0002	0.0002	0	0	0	0.0004	0.0005	0	1.079e-05	6.623e-05	3.478e-05	5.252e-05	5.249e-05	2.569e-05	8.057e-05	0.0008	2.555e-05	1.829e-05	0.0003	0.0002	0	0	6.532e-05	0	0.0008	9.418e-05	0	1.47e-05	0	0.0002	0.022	0.91255	D	0.002	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	3.135	0.88152	M	-4.35	0.97292	D	-3.79	0.71997	D	0.927	0.95956	1.103	0.99780	D	0.951	0.98406	D	10	0.9421134	0.93536	D	0.453913	0.94392	D	0.900	0.97210	.	.	0.980152734819	0.97993	0.7171497687857085	0.71657	0.299232278164	0.32289	0.543056249619	0.44877	T	0.576846	0.86080	D	0.351911	0.86634	D	0.532148	0.95258	D	0.762604475021362	0.44002	D	0.957004	0.83719	D	0.5790413	0.71556	0.50084877	0.71143	0.5790413	0.71557	0.50084877	0.71143	-6.562	0.50762	T	.	.	0.454	0.65780	A	.;.	.;.	5.144797	0.86152	28.8	0.99936979861783948	0.99661	0.98357	0.81958	D	AEFDBI	0.915213	0.87967	D	0.844398920442587	0.88787	9.711513	0.782761902675287	0.88570	9.631926	0.999999997480832	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.11	5.11	0.69188	7.811000	0.84631	7.569000	0.60664	0.513000	0.23382	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	17.544	0.87752	867	0.32089	Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	705.98	56	chr16	84236816	.	C	T	705.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.825;DP=1104;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=-2.540e-01;SOR=0.716	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	20	0	1	0
chr16	84237124	84237124	C	T	exonic	KCNG4	.	nonsynonymous SNV	KCNG4:NM_172347:exon2:c.G362A:p.G121E,	.	.	422	1095	5	0	0	5	0.0022779	.	.	2291939	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.977	D	0.656	P	0.000	D	0.980	D	0.67	N	-0.81	T	-0.457	T	0.310	T	0.557	3.497	17.88	3.07	0.497	4.864	14.447	0.370	0.031901450938	0.0005	.	0.0002	0	0	0	0	0.0003	0	0.0004	0.0002587	40	154602	rs139917975	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0005	0.0005	5.974e-05	0	0	0	1.873e-05	0.0003	0.0005	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0001	0.0002	0.0001	0.0002	0	6.538e-05	0	0	0	0	0.0003	0	0.0006	0.122	0.27663	T	0.84	0.03610	T	0.635	0.58535	P	0.41	0.52685	B	0.000038	0.55875	D	0.158983	0.938911	0.39578	D	0.935	0.23595	L	-0.81	0.73949	T	-1.09	0.28290	N	0.583	0.62357	-0.4566	0.70181	T	0.310	0.68048	T	10	0.44320303	0.58232	T	0.031901	0.53866	D	0.370	0.68930	.	.	0.655005393053	0.65212	0.8586314626879468	0.85826	0.288080729046	0.31214	0.485423803329	0.36805	T	0.222889	0.58687	T	-0.287465	0.09892	T	-0.226233	0.52136	T	0.0851231414396133	0.10629	T	0.946205	0.79443	D	0.30397373	0.53259	0.32174495	0.58120	0.30397373	0.53259	0.32174495	0.58119	-6.93	0.53521	T	.	.	0.262	0.49635	B	.;.	.;.	3.287893	0.45079	22.1	0.99427567334982592	0.64081	0.87491	0.47048	D	AEFDBI	0.794867	0.72245	D	0.00188493586390381	0.41940	2.517844	0.00531368521278225	0.39960	2.377416	0.848502224475227	0.24999	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.12	3.07	0.34476	4.935000	0.63199	3.237000	0.36943	0.513000	0.23382	0.786000	0.29545	0.998000	0.33993	0.974000	0.55675	0.0:0.7201:0.2799:0.0	14.447	0.66929	867	0.32089	Potassium channel tetramerisation-type BTB domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1960.98	42	chr16	84237124	.	C	T	1960.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.13;DP=1029;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.96;ReadPosRankSum=-1.437e+00;SOR=0.697	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr16	84237245	84237245	G	C	exonic	KCNG4	.	nonsynonymous SNV	KCNG4:NM_172347:exon2:c.C241G:p.P81A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.38	M	-1.21	T	0.656	D	0.715	D	0.886	4.666	25.7	5.12	2.374	9.869	17.548	0.842	0.204076598707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	3.995	0.96723	H	-1.21	0.78645	T	-7.29	0.96191	D	0.918	0.92084	0.656	0.92617	D	0.715	0.90210	D	10	0.98367405	0.98518	D	0.204077	0.86911	D	0.842	0.95063	0.874	0.96529	0.902595158394	0.90162	0.7267457974176721	0.72618	0.300276557022	0.32389	0.515795707703	0.41034	T	0.693763	0.91120	D	0.395435	0.89649	D	0.330238	0.89519	D	0.999233722686768	0.96639	D	0.954405	0.82627	D	0.51331943	0.67873	0.423432	0.66214	0.51331943	0.67874	0.423432	0.66214	-10.882	0.79007	D	.	.	0.463	0.62854	A	.;.	.;.	4.778257	0.77414	26.7	0.99712226857641983	0.81423	0.99450	0.96181	D	AEFDBI	0.898741	0.84237	D	0.983424013398968	0.95212	13.410	0.906003638124208	0.95829	14.01148	0.999999997529032	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.12	5.12	0.69459	9.993000	0.99245	11.716000	0.94734	0.578000	0.29377	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	0.0:0.0:1.0:0.0	17.548	0.87765	873	0.30802	Potassium channel tetramerisation-type BTB domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2212.98	42	chr16	84237245	.	G	C	2212.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.502e+00;DP=957;ExcessHet=0.0000;FS=2.004;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.92;ReadPosRankSum=0.338;SOR=0.608	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr16	84295056	84295056	G	A	exonic	WFDC1	.	nonsynonymous SNV	WFDC1:NM_001282466:exon1:c.G85A:p.G29S	.	.	.	.	.	.	.	.	.	.	.	2729834	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.81	T	0.003	B	0.002	B	0.712	N	1.000	N	0.345	N	1.58	T	-0.971	T	0.028	T	0.136	1.680	11.57	-5.79	-1.250	-1.865	6.165	0.005	0.00371719487093	.	0.000199681	1.649e-05	0	0	0	0	1.501e-05	0	6.07e-05	1.94e-05	3	154602	rs200391042	3.284e-05	3.283e-05	3.403e-05	3.163e-05	0.0003	2.543e-05	2.249e-05	0.0002	0.0001	5.974e-05	0	0	0.0003	0	0.0002	2.518e-05	3.311e-05	3.478e-05	2.626e-05	2.624e-05	5.138e-05	0	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.405e-05	0	0	0	0.0002	0	0	2.94e-05	0	0	0.809	0.03044	T	0.342	0.17910	T	0.003	0.11197	B	0.002	0.06944	B	0.712410	0.10002	N	0.849797	1	0.08975	N	0.975	0.24501	L	1.58	0.29085	T	0.42	0.03352	N	0.057	0.06059	-0.9706	0.37073	T	0.028	0.12103	T	10	0.02453065	0.00678	T	0.003717	0.08620	T	0.005	0.00259	.	.	0.0666544352282	0.05500	0.42552893097414946	0.42469	0.0197173881048	0.01935	0.267190426588	0.05778	T	0.023207	0.17756	T	-0.38492	0.02900	T	-0.693834	0.06170	T	0.0303745924199644	0.02047	T	0.330167	0.08660	T	0.037285667	0.04752	0.050108474	0.07796	0.037285667	0.04751	0.050108474	0.07796	-3.959	0.23188	T	.	.	0.070	0.03515	B	.;.;.	.;.;.	-0.980920	0.00798	0.026	0.76880882146728813	0.11647	0.02279	0.06573	N	AEFDBCIJ	0.057557	0.10732	N	-1.84225599880696	0.00450	0.01934633	-1.89716280842107	0.00496	0.02197793	0.999994372189705	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.467745	0.07146	0	0.530356	0.10902	0	.	.	4.25	-5.79	0.02162	-1.612000	0.02163	-0.495000	0.08836	-2.759000	0.00195	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5537:0.0:0.3172:0.1292	6.165	0.19604	968	0.07033	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	942.98	34	chr16	84295056	.	G	A	942.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.097;DP=824;ExcessHet=0.0000;FS=1.900;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=1.10;SOR=0.436	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr16	84295093	84295093	C	T	exonic	WFDC1	.	nonsynonymous SNV	WFDC1:NM_001282466:exon1:c.C122T:p.A41V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.003	B	0.001	B	0.615	N	1.000	N	0	N	1.55	T	-1.017	T	0.031	T	0.066	0.978	8.993	-1.6	-0.123	0.015	2.747	0.008	0.00521187747419	.	0.000199681	3.309e-05	0	0	0	0	3.006e-05	0	0.0001	3.23e-05	5	154602	rs531551784	1.574e-05	1.573e-05	1.089e-05	2.063e-05	9.279e-05	1.048e-05	8.75e-06	4.58e-05	3.273e-05	0	0	0.0001	0	0	0	9.893e-06	1.656e-05	9.279e-05	2.626e-05	2.625e-05	3.854e-05	1.342e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0.0003	0	0	0	2.94e-05	0	0.0002	0.287	0.15149	T	0.225	0.46862	T	0.003	0.11197	B	0.001	0.04355	B	0.614588	0.05720	N	1.254650	1	0.08975	N	0.895	0.22405	L	1.55	0.29866	T	-1.2	0.30555	N	0.056	0.04426	-1.0167	0.24787	T	0.031	0.13418	T	10	0.02924195	0.01051	T	0.005212	0.13279	T	0.008	0.00669	0.294	0.25720	0.0920862733494	0.08535	0.5239452950613518	0.52318	0.0197667107922	0.01940	0.446965694427	0.31530	T	0.040072	0.25406	T	-0.484919	0.00693	T	-0.752801	0.03378	T	0.0497401808612008	0.05455	T	0.634137	0.24845	T	0.05766979	0.11505	0.055068016	0.09590	0.05766979	0.11504	0.055068016	0.09589	-4.938	0.36159	T	.	.	0.095	0.40842	B	.;.;.	.;.;.	1.581020	0.20228	14.65	0.90769819135728536	0.20018	0.02605	0.07176	N	AEFDBCI	0.054440	0.09898	N	-1.11113577913115	0.06444	0.296657	-1.09807229024636	0.07738	0.3775978	0.999651403112504	0.41424	0.616025	0.39624	0	0.563428	0.19063	0	0.574621	0.27300	0	0.530356	0.10902	0	.	.	4.26	-1.6	0.07977	0.053000	0.14067	-0.657000	0.07999	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.795000	0.37519	0.3433:0.3512:0.0:0.3055	2.747	0.04946	969	0.06854	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1163.98	67	chr16	84295093	.	C	T	1163.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.474e+00;DP=832;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.37;ReadPosRankSum=-8.910e-01;SOR=0.735	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr16	84657828	84657828	G	A	exonic	KLHL36	.	nonsynonymous SNV	KLHL36:NM_001303451:exon3:c.G1021A:p.A341T	.	.	412	1104	5	1	0	7	0.00316027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.019	B	0.033	B	0.000	D	1.000	D	2	M	1.4	T	-1.040	T	0.069	T	0.544	3.210	16.75	4.79	1.401	5.583	9.579	0.178	0.00904242596581	0.0046	0.00179712	0.0036	0.0006	0.0014	0	0.0059	0.0048	0.0064	0.0030	0.0033053	511	154602	rs117873154	0.0051	0.0051	0.0052	0.0050	0.0058	0.0050	0.0050	0.0056	0.0056	0.0010	0.0025	0.0030	2.535e-05	0.0053	0.0044	0.0058	0.0059	0.0021	0.0038	0.0038	0.0040	0.0036	0.0059	0.0035	0.0034	0.0054	0.0052	0.0010	0	0.0028	0.0023	0	0.0055	0.0136	0.0059	0.0076	0.0017	0.025	0.47320	D	0.107	0.39040	T	0.019	0.17989	B	0.033	0.22329	B	0.000000	0.84330	D	0.049257	0.999999	0.58761	D	1.79	0.46772	L	-1.38	0.80301	T	-3.2	0.64710	D	0.467	0.50778	-1.0400	0.17313	T	0.069	0.28247	T	10	0.012141705	0.00262	T	0.009042	0.23797	T	0.178	0.44724	.	.	0.342376198884	0.33841	0.7697341058369549	0.76922	0.50453457228	0.48728	0.751836001873	0.74718	T	0.597636	0.87057	D	-0.245412	0.14666	T	-0.121987	0.61640	T	0.0236451710741958	0.01101	T	0.845015	0.52334	T	0.26467484	0.49535	0.26537204	0.52369	0.26467484	0.49535	0.26537204	0.52368	-6.247	0.48301	T	.	.	0.132	0.45024	B	.;.	.;.	3.369659	0.46563	22.3	0.99573005998476183	0.72501	0.98098	0.79581	D	AEFDBI	0.554038	0.56505	D	-0.0033123071364118	0.41704	2.499404	0.109717659886322	0.45045	2.774694	0.999999926071844	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.76	4.79	0.60909	5.693000	0.67926	9.911000	0.82427	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.074:0.1432:0.7829:0.0	9.579	0.38644	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	837.98	40	chr16	84657828	.	G	A	837.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.035e+00;DP=834;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.09;ReadPosRankSum=0.329;SOR=0.582	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1245	20	0	1	0
chr16	85654892	85654892	T	C	exonic	GSE1	.	nonsynonymous SNV	GSE1:NM_001134473:exon4:c.T386C:p.M129T	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.493	P	0.079	B	0.000	D	1.000	D	1.995	M	1.43	T	-1.074	T	0.074	T	0.637	2.836	15.45	5.09	1.913	5.530	14.858	0.166	0.0339245641544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.58626	D	0.023	0.72224	D	0.361	0.37004	B	0.036	0.28749	B	0.000000	0.84330	D	0.074289	1	0.81001	D	2.095	0.58118	M	1.43	0.33189	T	-2.39	0.72120	N	0.561	0.58543	-1.0740	0.08556	T	0.074	0.29960	T	10	0.2251372	0.39335	T	0.033925	0.55325	D	0.166	0.42578	0.14	0.04369	0.29527378943	0.29149	0.6011286794930265	0.60043	.	.	0.504978895187	0.39522	T	0.118753	0.43980	T	0.00599225	0.52478	T	-0.229169	0.51853	T	0.886191189289093	0.53659	D	0.869413	0.77539	D	0.46211714	0.64802	0.35876587	0.61347	0.46211714	0.64803	0.35876587	0.61347	-10.309	0.79245	D	.	.	0.396	0.63538	A	.;.;.;.	.;.;.;.	3.332787	0.45886	22.2	0.97814927934623408	0.36155	0.97853	0.77620	D	AEFBCI	0.688159	0.64926	D	0.0968822354086205	0.46317	2.873936	0.184056892517323	0.48974	3.106287	0.99999999996819	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	5.09	5.09	0.68647	5.543000	0.66933	6.125000	0.53838	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:0.0:1.0	14.858	0.69986	982	0.03397	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1471.98	37	chr16	85654892	.	T	C	1471.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.700e-01;DP=861;ExcessHet=0.0000;FS=0.610;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.50;ReadPosRankSum=-1.650e-01;SOR=0.762	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1280	20	0	1	0
chr16	85655727	85655727	A	T	exonic	GSE1	.	nonsynonymous SNV	GSE1:NM_001134473:exon5:c.A487T:p.M163L	.	.	381	1127	14	0	0	14	0.00617284	0.0007	0	703863	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.57	T	0.01	B	0.003	B	0.000	D	0.999	D	1.295	L	1.47	T	-1.083	T	0.050	T	0.694	2.263	13.52	2.15	0.697	4.922	9.670	0.193	.	0.0028	0.00279553	0.0032	0.0027	0.0015	0.0002	0.0008	0.0034	0.0025	0.0080	0.0031047	480	154602	rs151194801	0.0029	0.0029	0.0026	0.0031	0.0081	0.0028	0.0028	0.0076	0.0074	0.0026	0.0022	0.0040	5.049e-05	0.0008	0.0058	0.0027	0.0033	0.0081	0.0026	0.0026	0.0026	0.0027	0.0087	0.0024	0.0023	0.0066	0.0059	0.0024	0	0.0013	0.0032	0.0002	0.0010	0	0.0031	0.0019	0.0087	0.144	0.25255	T	0.317	0.29540	T	0.006	0.15535	B	0.001	0.08700	B	0.000000	0.84330	D	0.115413	0.998768	0.45406	D	1.81	0.47622	L	1.47	0.31987	T	-1.07	0.43334	N	0.698	0.70263	-1.0834	0.06702	T	0.050	0.21378	T	10	0.0076492727	0.00174	T	.	.	.	0.193	0.47281	0.113	0.02240	0.216624796971	0.21254	0.578017275652566	0.57730	.	.	0.802392959595	0.82329	T	0.101135	0.40759	T	-0.325232	0.06478	T	-0.235384	0.51248	T	0.0131205379348841	0.00231	T	0.793221	0.43505	T	0.2871086	0.51723	0.16584592	0.38345	0.2871086	0.51723	0.16584592	0.38344	-6.546	0.50640	T	.	.	0.253	0.48797	B	.;.;.;.	.;.;.;.	3.270610	0.44771	22.0	0.81696290854396003	0.13814	0.95259	0.64030	D	AEFBCI	0.626681	0.60941	D	-0.342235722194514	0.27558	1.512964	-0.209525126502462	0.31191	1.76304	0.997746312825063	0.35977	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	4.79	2.15	0.26590	4.952000	0.63320	5.942000	0.51497	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.769000	0.36481	0.8281:0.0:0.1719:0.0	9.670	0.39171	976	0.04745	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	525.98	33	chr16	85655727	.	A	T	525.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.167e+00;DP=744;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.74;ReadPosRankSum=-3.940e-01;SOR=0.517	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1348	20	0	1	0
chr16	85672448	85672448	G	A	exonic	GSE1	.	nonsynonymous SNV	GSE1:NM_001134473:exon15:c.G3251A:p.R1084Q	.	.	.	.	.	.	.	.	.	.	.	3259136	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.898	P	0.000	D	0.963	D	1.935	M	1.41	T	-0.827	T	0.181	T	0.467	4.281	22.4	5.89	2.793	5.858	20.262	0.172	0.0155260808207	7.7e-05	.	6.001e-05	0	0	0	0	6.243e-05	0.0011	0.0001	5.17e-05	8	154602	rs368544307	5.764e-05	5.952e-05	5.599e-05	5.929e-05	0.0003	4.757e-05	4.379e-05	6.103e-05	5.298e-05	0	0	0	0	0	0.0003	7.038e-05	1.66e-05	3.489e-05	5.915e-05	5.911e-05	5.14e-05	6.727e-05	0.0001	3.078e-05	2.211e-05	6.803e-05	5.087e-05	0	0	0	0	0	0	0	0.0001	0	0	0.012	0.54683	D	0.004	0.74150	D	0.998	0.73220	D	0.898	0.63708	P	0.000244	0.46924	D	0.180182	0.962873	0.38315	D	2.32	0.66415	M	1.41	0.33412	T	-1.93	0.47344	N	0.388	0.43223	-0.8265	0.53524	T	0.181	0.52798	T	10	0.3217131	0.49530	T	0.015526	0.36313	T	0.172	0.43662	.	.	0.552451585512	0.54903	0.31450712655164786	0.31363	.	.	0.487424850464	0.37082	T	0.085079	0.37422	T	-0.178142	0.24011	T	-0.311518	0.43495	T	0.342261135578156	0.26714	T	0.971903	0.89922	D	0.18470725	0.39799	0.13877589	0.33132	0.18470725	0.39799	0.13877589	0.33131	-4.296	0.28121	T	.	.	0.114	0.22537	B	.;.;.	.;.;.	5.273832	0.88551	29.6	0.99955533600834623	0.99975	0.90767	0.52222	D	AEFDBCI	0.596059	0.59037	D	0.750830109418654	0.82958	7.893377	0.757832521150027	0.86742	8.987416	0.999969372593258	0.48965	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	5.89	5.89	0.94758	5.932000	0.69838	8.651000	0.77933	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:0.0:1.0:0.0	20.262	0.98449	952	0.10565	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1256.98	87	chr16	85672448	.	G	A	1256.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=869;ExcessHet=0.0000;FS=0.913;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.45;ReadPosRankSum=0.930;SOR=0.830	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,111,1665	20	0	1	0
chr16	85710273	85710278	GCTGCT	-	exonic	C16orf74	.	nonframeshift deletion	C16orf74:NM_206967:exon3:c.58_63del:p.S20_S21del,	.	.	391	1107	21	2	1	26	0.0111657	.	.	2817885	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	.	0.0071	0.0027	0.0071	0	0	0.0096	0	0.0059	0.0007684	20	26028	rs759324463	0.0071	0.0070	0.0071	0.0072	0.0081	0.0070	0.0070	0.0080	0.0079	0.0013	0.0041	0.0030	9.319e-05	0.0009	0.0081	0.0081	0.0063	0.0050	0.0048	0.0048	0.0052	0.0045	0.0088	0.0046	0.0044	0.0076	0.0072	0.0018	0	0.0088	0.0029	0	0.0006	0	0.0069	0.0085	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1412.94	35	chr16	85710272	.	GGCTGCT	G	1412.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.617;DP=849;ExcessHet=0.0000;FS=3.268;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.48;ReadPosRankSum=-6.400e-01;SOR=0.404	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr16	86510654	86510654	G	T	exonic	FOXF1	.	nonsynonymous SNV	FOXF1:NM_001451:exon1:c.G85T:p.A29S,	Alveolar capillary dysplasia with misalignment of pulmonary veins, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	336305	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.78	T	0.012	B	0.006	B	.	.	0.997	D	0	N	-3.86	D	-0.285	T	0.590	D	0.106	-0.614	1.267	2.28	0.692	2.680	10.204	0.258	0.87117369	0.0002	0.000199681	0.0001	0	0.0002	0	0	0.0002	0.0028	0	7.76e-05	12	154602	rs373503439	3.452e-05	3.557e-05	3.569e-05	3.334e-05	0.0003	2.656e-05	2.397e-05	0.0002	0.0002	3.026e-05	0.0003	0.0002	0	0	0	2.258e-05	5.033e-05	1.176e-05	1.977e-05	1.97e-05	2.579e-05	1.348e-05	6.551e-05	5.26e-06	2.46e-06	4.89e-06	1.83e-06	0	0	6.551e-05	0	0	0	0	2.947e-05	0	0	0.299	0.14546	T	0.695	0.05825	T	0.012	0.16265	B	0.006	0.12133	B	.	.	.	.	0.996753	0.43396	D	0	0.06538	N	-3.86	0.95891	D	0.31	0.04022	N	0.129	0.12341	-0.2850	0.75404	T	0.590	0.85320	D	9	0.06693658	0.09255	T	0.871174	0.99015	D	0.258	0.56959	.	.	0.41767021734	0.41382	0.5089539679211464	0.50817	.	.	0.834429383278	0.87241	D	0.153577	0.49449	T	-0.243161	0.14949	T	-0.288124	0.45967	T	0.0047689712689035	0.00051	T	0.440256	0.12156	T	0.10229264	0.24170	0.13500386	0.32335	0.08503591	0.19707	0.15600893	0.36542	-2.984	0.10010	T	0.0623405500016317	0.01841	0.066	0.02228	B	.	.	2.811467	0.37014	20.4	0.75559715118271653	0.11122	0.65208	0.32661	D	AEFDBHCIJ	0.312076	0.41762	N	-0.991833748267144	0.08777	0.4128554	-0.877473683861996	0.12629	0.6507103	0.999999703022704	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.56751	0.32155	0	.	.	3.27	2.28	0.27583	0.690000	0.25132	8.145000	0.76695	-0.171000	0.11205	0.013000	0.18845	1.000000	0.68203	0.701000	0.34172	0.0:0.2056:0.7944:0.0	10.204	0.42278	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	718.98	36	chr16	86510654	.	G	T	718.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.91;DP=796;ExcessHet=0.0000;FS=0.880;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.59;ReadPosRankSum=-1.243e+00;SOR=0.780	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1061	20	0	1	0
chr16	86511045	86511045	A	G	exonic	FOXF1	.	nonsynonymous SNV	FOXF1:NM_001451:exon1:c.A476G:p.N159S,	Alveolar capillary dysplasia with misalignment of pulmonary veins, Autosomal dominant	.	0	1509	13	0	0	13	0.00428901	.	.	342529	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.19	T	0.137	B	0.083	B	0.000	D	1.000	D	1.405	L	-3.74	D	0.204	D	0.611	D	0.097	2.170	13.21	4.37	1.597	6.844	12.731	0.347	.	7.7e-05	0.00379393	0.0028	0.0002	0	0.0340	0.0002	0.0003	0.0023	0.0007	0.0024256	375	154602	rs117800841	0.0018	0.0018	0.0018	0.0018	0.0560	0.0017	0.0017	0.0540	0.0532	2.987e-05	4.472e-05	3.827e-05	0.0560	9.799e-05	0.0009	0.0001	0.0015	0.0013	0.0013	0.0014	0.0010	0.0016	0.0330	0.0012	0.0011	0.0289	0.0274	7.231e-05	0	0.0002	0.0003	0.0330	0	0	0.0002	0	0.0025	0.114	0.28646	T	0.399	0.15059	T	0.137	0.27402	B	0.083	0.29179	B	0.000002	0.62929	D	0.056332	1	0.81001	D	1.155	0.29575	L	-3.74	0.95493	D	-1.62	0.38924	N	0.45	0.48780	0.204	0.85984	D	0.611	0.86237	D	10	0.0076615512	0.00174	T	.	.	.	0.347	0.66863	.	.	0.866355195852	0.86505	0.7506794559549024	0.75014	.	.	0.733849644661	0.72068	T	0.340542	0.70955	T	-0.328039	0.06261	T	-0.180603	0.56468	T	0.0151238544479257	0.00329	T	0.845915	0.52533	T	0.15096663	0.34342	0.12861525	0.30941	0.15995057	0.35902	0.13424526	0.32171	-5.594	0.42737	T	0.1651086525744122	0.20447	0.12	0.24767	B	.	.	3.525434	0.49441	22.8	0.94027428675487024	0.24139	0.98606	0.84623	D	AEFDBHCIJ	0.925867	0.90609	D	0.0256078005001723	0.43020	2.603369	0.15618619600794	0.47471	2.977	0.999999999998126	0.74766	0.65757	0.49021	0	0.541168	0.11318	0	0.606814	0.37721	0	0.604282	0.37693	0	.	.	4.37	4.37	0.51830	6.874000	0.75347	5.138000	0.47694	0.734000	0.85920	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	12.731	0.56570	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	2501.98	36	chr16	86511045	.	A	G	2501.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.95;DP=915;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.94;MQRankSum=-9.890e-01;QD=13.60;ReadPosRankSum=0.539;SOR=0.737	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1061	20	0	1	0
chr16	86552196	86552196	G	A	exonic	MTHFSD	.	nonsynonymous SNV	MTHFSD:NM_001159378:exon3:c.C220T:p.R74C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.938	P	0.467	P	.	.	1.000	D	3.575	H	0.88	T	-0.389	T	0.224	T	0.617	3.858	19.60	4.88	1.351	7.176	13.788	0.391	0.0712965614752	.	.	2.528e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs767847970	1.779e-05	1.779e-05	1.361e-05	2.2e-05	0.0002	1.238e-05	1.052e-05	0.0001	0.0001	0	0	0	2.519e-05	0	0	5.396e-06	0	0.0002	2.626e-05	2.625e-05	1.285e-05	4.027e-05	0.0002	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0.0002	0.017	0.51248	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.88	0.46028	T	-7.13	0.95366	D	0.704	0.71143	-0.3889	0.72377	T	0.224	0.58856	T	9	0.79639137	0.79108	D	0.071297	0.71233	D	0.391	0.70684	.	.	0.698870113343	0.69627	.	.	.	.	0.513438403606	0.40704	T	0.426218	0.82212	T	-0.187465	0.22630	T	-0.247378	0.50076	T	0.515599846839905	0.33203	D	0.867613	0.60854	D	.	.	.	.	.	.	.	.	-11.923	0.84473	D	.	.	0.605	0.73980	P	.;.;.;.	.;.;.;.	2.873055	0.37996	20.6	0.99918182604276173	0.98586	0.98534	0.83810	D	AEFBI	0.905489	0.85707	D	0.669226680842934	0.77617	6.709469	0.622878872725212	0.76605	6.521911	0.999996477284352	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.408882	0.06424	0	0.635551	0.53088	0	.	.	5.93	4.88	0.63131	7.144000	0.76943	4.395000	0.43227	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0787:0.0:0.9213:0.0	13.788	0.62612	970	0.06235	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1751.98	33	chr16	86552196	.	G	A	1751.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.42;DP=911;ExcessHet=0.0000;FS=1.287;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=-4.930e-01;SOR=0.808	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1312	20	0	1	0
chr16	86554707	86554707	T	G	exonic	MTHFSD	.	startloss	MTHFSD:NM_001159377:exon2:c.A61C:p.M21L	.	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.023	B	0.039	B	0.000	N	1.000	N	-0.345	N	1.47	T	-1.019	T	0.029	T	0.293	0.390	6.119	3.08	0.325	3.182	7.562	0.066	0.00558282854325	.	.	1.656e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs754742924	1.847e-05	1.847e-05	1.361e-05	2.338e-05	0.0002	1.265e-05	1.084e-05	1.627e-05	1.382e-05	0	0	0	0	0	0.0002	2.338e-05	0	0	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.468	0.11406	T	0.58	0.11407	T	0.023	0.18885	B	0.039	0.23607	B	0.000024	0.55875	N	0.188947	1	0.81001	D	0.035	0.08059	N	1.47	0.42122	T	-1.08	0.35194	N	0.386	0.45426	-1.0187	0.24139	T	0.029	0.12541	T	10	0.091973245	0.30862	T	0.005583	0.14409	T	0.066	0.19193	0.632	0.76810	0.251116650651	0.24721	0.6131088873216227	0.61242	0.0194434751322	0.01902	0.471052289009	0.34825	T	0.008063	0.24054	T	-0.26355	0.12487	T	-0.459982	0.26601	T	0.171824349554577	0.18703	T	0.842016	0.65058	T	0.21194153	0.43532	0.17945966	0.40681	0.21194153	0.43532	0.17945966	0.40681	-6.461	0.50333	T	.	.	0.151	0.40952	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.137165	0.27209	17.39	0.68600654154254292	0.08709	0.84924	0.44020	D	AEFDGBCI	0.332600	0.43196	N	-0.571626600856352	0.19811	1.039752	-0.374843156973269	0.25750	1.417964	0.999999980332781	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.4	3.08	0.34576	3.077000	0.49787	2.291000	0.31959	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.1237:0.0:0.3118:0.5645	7.562	0.27023	976	0.04745	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1353.98	33	chr16	86554707	.	T	G	1353.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=812;ExcessHet=0.0000;FS=2.213;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.42;ReadPosRankSum=0.00;SOR=0.907	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1417	20	0	1	0
chr16	87311224	87311224	C	A	exonic	C16orf95	.	nonsynonymous SNV	C16orf95:NM_001195124:exon4:c.G403T:p.G135C,	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0800698156559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.7	0.92476	D	0.584	0.60495	.	.	.	.	.	.	.	0.78708345	0.78339	D	0.08007	0.73378	D	.	.	.	.	0.57334081109	0.57001	0.21155206361292508	0.21071	.	.	.	.	.	.	.	.	-0.0258506	0.48016	T	-0.274909	0.47323	T	.	.	.	0.572043	0.20399	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.64238	A	.	.	3.928165	0.57397	23.9	0.99690961563060387	0.79909	0.69251	0.34114	D	AEFBI	0.275424	0.39038	N	.	.	.	.	.	.	0.939918123851883	0.27409	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.0	3.03	0.34070	3.261000	0.51233	5.722000	0.49476	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.011000	0.09372	0.0:0.8713:0.0:0.1287	6.630	0.22046	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1974.98	33	chr16	87311224	.	C	A	1974.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.192;DP=883;ExcessHet=0.0000;FS=0.565;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=-2.299e+00;SOR=0.762	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,114,1710	20	0	1	0
chr16	87604131	87604131	G	A	exonic	JPH3	.	nonsynonymous SNV	JPH3:NM_001271605:exon2:c.G425A:p.R142K,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.383e-07	6.84e-07	1.635e-06	0	1.453e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.453e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1424.98	34	chr16	87604131	.	G	A	1424.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.280e-01;DP=820;ExcessHet=0.0000;FS=4.561;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=-2.324e+00;SOR=1.132	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1425	20	0	1	0
chr16	87604296	87604296	-	CTGCTG	exonic	JPH3	.	nonframeshift insertion	JPH3:NM_001271604:exon2:c.439_440insCTGCTG:p.A157_V158insAA,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	0/0:37,0,0,0,0,0:37:99:0,99,1425,99,1425,1425,99,1425,1425,1425,99,1425,1425,1425,1425,99,1425,1425,1425,1425,1425	4	4	6	0
chr16	87604296	87604296	-	CTG	exonic	JPH3	.	nonframeshift insertion	JPH3:NM_001271604:exon2:c.439_440insCTG:p.A157_V158insA,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	0/0:37,0,0,0,0,0:37:99:0,99,1425,99,1425,1425,99,1425,1425,1425,99,1425,1425,1425,1425,99,1425,1425,1425,1425,1425	4	4	6	0
chr16	87604296	87604296	-	CTGCTGCTG	exonic	JPH3	.	nonframeshift insertion	JPH3:NM_001271604:exon2:c.439_440insCTGCTGCTG:p.A157_V158insAAA,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	0/0:37,0,0,0,0,0:37:99:0,99,1425,99,1425,1425,99,1425,1425,1425,99,1425,1425,1425,1425,99,1425,1425,1425,1425,1425	4	4	6	0
chr16	87604294	87604296	CTG	-	exonic	JPH3	.	nonframeshift deletion	JPH3:NM_001271604:exon2:c.437_439del:p.A157del,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	0/0:37,0,0,0,0,0:37:99:0,99,1425,99,1425,1425,99,1425,1425,1425,99,1425,1425,1425,1425,99,1425,1425,1425,1425,1425	4	4	6	0
chr16	87869301	87869301	C	T	exonic	SLC7A5	.	nonsynonymous SNV	SLC7A5:NM_003486:exon1:c.G122A:p.G41D,	.	.	385	1129	8	0	0	8	0.00353045	.	.	3195578	SLC7A5-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.63	T	0.003	B	0.002	B	0.136	N	1.000	N	0	N	-2.84	D	-0.744	T	0.359	T	0.065	2.525	14.40	-0.423	0.479	0.410	5.288	0.075	0.226011066741	0.0010	0.000199681	0.0020	0.0006	0.0005	0.0021	0.0043	0.0020	0.0035	0.0026	0.0016041	248	154602	rs148183733	0.0019	0.0019	0.0019	0.0019	0.0030	0.0018	0.0018	0.0027	0.0026	2.993e-05	0.0007	3.833e-05	0.0007	0.0044	0.0015	0.0019	0.0014	0.0030	0.0015	0.0015	0.0012	0.0018	0.0019	0.0013	0.0012	0.0016	0.0015	0.0003	0	0.0014	0	0.0010	0.0040	0	0.0018	0.0024	0.0019	0.282	0.15406	T	0.407	0.14679	T	0.003	0.11197	B	0.002	0.06944	B	0.135638	0.18474	N	0.513877	1	0.08975	N	0	0.06538	N	-2.84	0.91305	D	0.27	0.04306	N	0.226	0.25377	-0.7439	0.58252	T	0.359	0.72108	T	10	0.0070702136	0.00161	T	0.226011	0.88024	D	0.075	0.21907	.	.	0.434470932917	0.43064	0.2413125635653737	0.24045	1.02087520744	0.75113	0.784105181694	0.79548	T	0.256103	0.62697	T	-0.436756	0.01351	T	-0.404449	0.32867	T	0.00130004484455822	0.00013	T	0.39776	0.10046	T	0.030461298	0.02715	0.044224683	0.05683	0.030461298	0.02714	0.044224683	0.05683	-4.942	0.36204	T	.	.	0.116	0.23290	B	.	.	1.521735	0.19533	14.31	0.94458193510445954	0.24894	0.79440	0.39364	D	ALL	0.153893	0.27883	N	-1.03498953478203	0.07885	0.3678321	-0.999012771929274	0.09808	0.4901037	0.999999999996218	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.594344	0.31042	0	0.621717	0.48901	0	.	.	3.02	-0.423	0.11710	0.918000	0.28299	0.882000	0.22403	0.429000	0.20894	0.511000	0.27041	0.966000	0.29516	0.031000	0.13245	0.0:0.4858:0.2757:0.2385	5.288	0.15020	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1802.98	33	chr16	87869301	.	C	T	1802.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.916;DP=880;ExcessHet=0.0000;FS=1.934;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.86;ReadPosRankSum=0.875;SOR=0.546	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr16	87881899	87881899	T	C	exonic	CA5A	.	nonsynonymous SNV	CA5A:NM_001367225:exon7:c.A815G:p.N272S,	Hyperammonemia due to carbonic anhydrase VA deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.10980928	0.20499	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263374	0.04265	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.16231	B	.	.	0.547946	0.09163	5.948	0.66041023486786077	0.07944	0.02188	0.06398	N	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999999977495905	0.74766	0.06567	0.01388	0	0.059962	0.00310	0	0.060301	0.00762	0	0.075334	0.01956	0	0.048964	0.08624	3.42	-4.73	0.03022	0.125000	0.15577	-1.225000	0.05976	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.039000	0.14166	0.2837:0.1649:0.3747:0.1766	1.269	0.01895	958	0.09170	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04545	31.43	50	chr16	87881899	.	T	C	31.43	.	AC=1;AF=0.045;AN=22;BaseQRankSum=0.00;DP=50;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1570;MLEAC=2;MLEAF=0.091;MQ=60.00;MQRankSum=0.00;QD=7.86;ReadPosRankSum=0.00;SOR=0.693	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,49	10	0	1	10
chr16	87891950	87891950	G	A	exonic	CA5A	.	nonsynonymous SNV	CA5A:NM_001367225:exon6:c.C623T:p.A208V	Hyperammonemia due to carbonic anhydrase VA deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1498439	Hyperammonemic_encephalopathy_due_to_carbonic_anhydrase_VA_deficiency|Inborn_genetic_diseases	MONDO:MONDO:0014332,MedGen:C3810404,OMIM:615751,Orphanet:401948|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.947	P	0.558	P	0.013	N	1.000	N	1.66	L	-0.08	T	-0.812	T	0.229	T	0.045	3.022	16.08	3.22	0.723	2.328	9.493	0.198	0.084259703932	0.0002	.	4.163e-05	0	0	0	0	9.623e-05	0	0	2.59e-05	4	154602	rs151220382	0.0001	0.0001	0.0001	0.0001	0.0002	9.35e-05	8.806e-05	0.0001	0.0001	0.0002	0	0.0002	0	0	0	0.0001	5.233e-05	0	4.598e-05	4.596e-05	6.421e-05	2.689e-05	8.818e-05	2.109e-05	1.526e-05	3.761e-05	2.574e-05	2.411e-05	0	0	0	0	0	0	8.818e-05	0	0	0.008	0.58626	D	0.053	0.47336	T	0.947	0.53479	P	0.558	0.49494	P	0.013249	0.28902	N	0.370470	1	0.08975	N	1.895	0.50365	L	-0.08	0.63911	T	-1.44	0.35399	N	0.23	0.25867	-0.8117	0.54448	T	0.229	0.59484	T	10	0.15621614	0.29426	T	0.08426	0.74289	D	0.198	0.48105	.	.	0.67384194882	0.67108	0.2858211115631989	0.28495	0.164236196575	0.18533	0.334977149963	0.15685	T	0.027629	0.20190	T	-0.388496	0.02751	T	-0.526524	0.19635	T	0.300610393285751	0.25029	T	0.351565	0.07865	T	0.22765264	0.45469	0.27502447	0.53435	0.22765264	0.45469	0.27502447	0.53434	-7.052	0.54413	T	0.28328783914613065	0.37893	0.123	0.25753	B	.;.;.	.;.;.	2.002112	0.25439	16.76	0.99785004357288598	0.87131	0.22806	0.21869	N	AEFDBHCI	0.154486	0.27952	N	-0.288766134539257	0.29580	1.641713	-0.463522621633125	0.23167	1.261968	0.999852680159795	0.44174	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.18	3.22	0.36041	0.653000	0.24588	1.657000	0.27878	0.613000	0.49114	0.000000	0.06391	0.004000	0.18990	0.001000	0.02609	0.1076:0.0:0.8924:0.0	9.493	0.38134	970	0.06235	Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;.;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	308.98	38	chr16	87891950	.	G	A	308.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=718;ExcessHet=0.0000;FS=1.404;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.66;ReadPosRankSum=-3.700e-01;SOR=0.458	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1232	20	0	1	0
chr16	88431891	88431891	C	T	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.C4421T:p.A1474V,	Brittle cornea syndrome 1, Autosomal recessive	.	0	1454	64	4	0	72	0.0241611	.	.	192287	Brittle_cornea_syndrome_1|Cardiovascular_phenotype|not_specified|Ehlers-Danlos_syndrome|not_provided	MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.513	P	0.027	B	.	.	1.000	N	0.55	N	3.08	T	-0.955	T	0.011	T	0.118	1.593	11.28	2.7	0.383	1.024	3.017	0.043	.	.	0.00559105	0.0113	0.0019	0.0073	0	0.0294	0.0124	0.0109	0.0138	0.002542	393	154602	rs199897247	0.0081	0.0077	0.0076	0.0086	0.0314	0.0080	0.0079	0.0277	0.0262	0.0015	0.0053	0.0210	2.798e-05	0.0048	0.0314	0.0078	0.0088	0.0149	0.0066	0.0066	0.0065	0.0067	0.0157	0.0062	0.0061	0.0129	0.0119	0.0013	0	0.0068	0.0228	0	0.0038	0.0374	0.0091	0.0090	0.0157	0.228	0.18434	T	0.369	0.16522	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.02	0.08986	T	-1.01	0.26639	N	0.085	0.06190	-0.9551	0.40078	T	0.011	0.04274	T	9	0.003430605	0.00060	T	.	.	.	0.043	0.11576	.	.	.	.	0.050505530543837704	0.04993	.	.	0.265331804752	0.05543	T	0.013903	0.11938	T	-0.670477	0.00055	T	-0.694891	0.06110	T	0.00365512448688516	0.00039	T	0.587141	0.21465	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.32079	B	.;.	.;.	1.692541	0.21561	15.25	0.86204571369130123	0.16381	0.04496	0.10116	N	AEFBI	0.066037	0.12911	N	-0.733709411162593	0.15079	0.7567972	-0.785316965241292	0.14855	0.7783546	0.996168408527723	0.34566	0.764865	0.99124	0	0.547309	0.14657	0	0.731555	0.93304	0	0.604944	0.38103	0	.	.	4.7	2.7	0.31007	1.033000	0.29798	1.096000	0.24025	0.549000	0.26987	0.002000	0.15269	0.000000	0.08366	0.006000	0.07323	0.1464:0.5171:0.227:0.1096	3.017	0.05695	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	6008.11	101	chr16	88431891	.	C	T	6008.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.480e-01;DP=2159;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=0.241;SOR=0.661	GT:AD:DP:GQ:PL	0/0:75,0:75:99:0,120,1800	19	0	2	0
chr16	88432422	88432422	A	G	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.A4952G:p.Q1651R,	Brittle cornea syndrome 1, Autosomal recessive	.	0	1511	11	0	0	11	0.00362677	.	.	192280	Brittle_cornea_syndrome_1|Cardiovascular_phenotype|Ehlers-Danlos_syndrome|not_provided	MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|MedGen:CN230736|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.35	T	0.004	B	0.003	B	.	.	1.000	N	0.345	N	3.42	T	-0.942	T	0.007	T	0.049	0.909	8.699	-8.38	-2.012	-0.707	1.084	0.004	0.159296427236	.	.	0.0004	0	0	0	0	0.0007	0.0063	0.0003	5.82e-05	9	154602	rs773925755	0.0004	0.0004	0.0004	0.0004	0.0077	0.0003	0.0003	0.0059	0.0053	0.0002	0.0007	0.0031	0	0	0.0077	0.0003	0.0011	0.0002	0.0004	0.0004	0.0004	0.0003	0.0012	0.0003	0.0003	0.0008	0.0007	0.0002	0	0.0012	0.0012	0	0	0.0068	0.0003	0.0005	0.0006	0.486	0.08091	T	0.211	0.26631	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.35	0.05989	T	-0.28	0.11547	N	0.029	0.02272	-0.9424	0.42234	T	0.007	0.02558	T	9	0.018613935	0.00407	T	0.159296	0.83953	D	0.004	0.00165	.	.	0.15556083564	0.15200	0.23828793486895608	0.23742	.	.	0.261016577482	0.05013	T	0.01143	0.10197	T	-0.664458	0.00059	T	-0.825782	0.01339	T	0.00135794444940984	0.00013	T	0.348565	0.07715	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.08609	B	.;.	.;.	-1.103645	0.00636	0.017	0.43578238770904026	0.03290	0.03014	0.07887	N	AEFDBI	0.087573	0.17757	N	-1.52929385133207	0.01660	0.07259991	-1.65009968223497	0.01375	0.0621263	0.999741137325267	0.42466	0.646311	0.45356	0	0.588066	0.40923	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	4.19	-8.38	0.00851	-0.724000	0.05050	-2.177000	0.04100	-0.351000	0.05566	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3759:0.2506:0.0942:0.2793	1.084	0.01545	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2330.98	101	chr16	88432422	.	A	G	2330.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.214e+00;DP=1822;ExcessHet=0.0000;FS=2.514;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=0.679;SOR=0.597	GT:AD:DP:GQ:PL	0/0:75,0:75:99:0,120,1800	20	0	1	0
chr16	88433561	88433561	G	A	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G6091A:p.E2031K,	Brittle cornea syndrome 1, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	132440	Ehlers-Danlos_syndrome|not_provided|Keratoconus_1	MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:C3661900|MONDO:MONDO:0007851,MedGen:C1835677,OMIM:148300	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.13	T	0.0	B	0.0	B	.	.	1.000	N	0	N	3.49	T	-0.958	T	0.010	T	0.135	1.056	9.314	-5.66	-1.451	-0.747	13.805	0.020	0.393756546926	.	.	0.0004	0	0	0	0	0	0	0.0010	5.17e-05	8	154602	rs273585622	8.154e-05	7.798e-05	6.351e-05	0.0001	0.0008	6.901e-05	6.422e-05	0.0006	0.0006	0	0	0	5.596e-05	0	0.0004	4.078e-05	5.174e-05	0.0008	3.283e-05	3.281e-05	0	6.712e-05	0.0006	1.26e-05	7.97e-06	0.0002	8.996e-05	0	0	0	0	0	0	0	2.941e-05	0	0.0006	0.775	0.03335	T	0.74	0.04982	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.43	0.05440	T	0.1	0.05810	N	0.063	0.03502	-0.9577	0.39608	T	0.010	0.03719	T	9	0.030807495	0.01209	T	0.393757	0.93246	D	0.020	0.03691	0.266	0.21261	0.132336055621	0.12781	0.12443907478148192	0.12369	.	.	0.288574516773	0.08715	T	0.002085	0.01490	T	-0.622405	0.00106	T	-0.751091	0.03443	T	0.00979798484691624	0.00129	T	0.460354	0.13329	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05017	B	.;.	.;.	-1.156161	0.00577	0.014	0.47103155907186317	0.03825	0.01060	0.03938	N	AEFBI	0.037174	0.05070	N	-1.87281714798071	0.00390	0.01677623	-1.91014876064469	0.00467	0.02069862	0.338105267768587	0.19555	0.700653	0.57754	0	0.588066	0.40923	0	0.717052	0.78885	0	0.655142	0.61905	0	.	.	4.88	-5.66	0.02255	-0.716000	0.05094	-3.057000	0.03100	-1.364000	0.01178	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6497:0.0:0.3503:0.0	13.805	0.62718	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.02381	2560.98	96	chr16	88433561	.	G	A	2560.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.035;DP=2038;ExcessHet=0.0000;FS=1.620;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=-1.681e+00;SOR=0.583	GT:AD:DP:GQ:PL	0/0:102,0:102:99:0,120,1800	20	0	1	0
chr16	88436039	88436039	G	C	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G8569C:p.V2857L,	Brittle cornea syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.005	B	0.006	B	.	.	1.000	N	0.55	N	0.93	T	-1.033	T	0.051	T	0.09	-0.010	3.964	-3.42	-0.624	-0.269	1.749	0.047	0.290819134338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.642e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.15930	T	0.198	0.27767	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.93	0.44065	T	-0.88	0.23808	N	0.098	0.07949	-1.0330	0.19490	T	0.051	0.21572	T	9	0.033857733	0.01574	T	0.290819	0.90557	D	0.047	0.12962	0.062	0.00241	0.0482279557977	0.04254	0.05778466525355656	0.05719	.	.	0.34829890728	0.17672	T	0.013528	0.11682	T	-0.315388	0.07282	T	-0.69081	0.06343	T	0.0342345647513866	0.02677	T	0.49795	0.15494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.38480	B	.;.	.;.	-0.302853	0.02606	0.323	0.36900263803691985	0.02400	0.09517	0.15255	N	AEFDBI	0.090526	0.18343	N	-1.38570647527791	0.02771	0.1228472	-1.41714451955664	0.03080	0.1429999	0.813156251799272	0.24391	0.646311	0.45356	0	0.547309	0.14657	0	0.578056	0.29568	0	0.699875	0.68795	0	.	.	5.28	-3.42	0.04521	-0.197000	0.09519	-0.427000	0.09246	-0.673000	0.04287	0.000000	0.06391	0.000000	0.08366	0.162000	0.20715	0.4266:0.2183:0.232:0.1232	1.749	0.02789	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.15	851.14	104	chr16	88436039	.	G	C	851.14	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.850e+00;DP=2947;ExcessHet=1.7912;FS=169.057;InbreedingCoeff=-0.1947;MLEAC=6;MLEAF=0.150;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=1.04;SOR=12.397	GT:AD:DP:GQ:PL	0/0:134,0:134:82:0,82,2602	14	0	6	1
chr16	88436564	88436578	CTTCCCGGGAACACC	-	exonic	ZNF469	.	nonframeshift deletion	ZNF469:NM_001367624:exon3:c.9094_9108del:p.L3032_T3036del,	Brittle cornea syndrome 1, Autosomal recessive	.	0	1473	47	2	0	51	0.017017	.	.	132460	Cardiovascular_phenotype|Keratoconus_1|Ehlers-Danlos_syndrome|Brittle_cornea_syndrome_1|not_provided	MedGen:CN230736|MONDO:MONDO:0007851,MedGen:C1835677,OMIM:148300|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0046	0.0012	0.0028	0	0	0.0043	0.0060	0.0060	0.0003842	10	26028	rs1483100952	0.0025	0.0024	0.0023	0.0028	0.0212	0.0025	0.0024	0.0182	0.0170	0.0012	0.0022	0.0050	0	0.0002	0.0212	0.0023	0.0033	0.0061	0.0021	0.0021	0.0018	0.0023	0.0073	0.0019	0.0018	0.0054	0.0047	0.0005	0.0055	0.0020	0.0035	0.0002	9.406e-05	0.0272	0.0029	0.0014	0.0073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3004.94	62	chr16	88436563	.	GCTTCCCGGGAACACC	G	3004.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.449;DP=1171;ExcessHet=0.0000;FS=2.743;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.32;ReadPosRankSum=0.365;SOR=0.684	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,108,1355	20	0	1	0
chr16	88437824	88437824	G	A	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G10354A:p.G3452S,	Brittle cornea syndrome 1, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	1671205	Brittle_cornea_syndrome_1|Cardiovascular_phenotype|not_provided	MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|MedGen:CN230736|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.33	T	0.999	D	0.648	P	.	.	1.000	N	0.345	N	3.31	T	-0.943	T	0.014	T	0.058	3.243	16.88	-0.85	-0.399	2.543	7.290	0.163	.	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs548646578	6.693e-05	6.498e-05	6.799e-05	6.583e-05	0.0005	5.57e-05	5.166e-05	0.0001	7.667e-05	0	5.65e-05	0	2.821e-05	0	0.0005	6.992e-05	0.0002	1.267e-05	0.0001	0.0001	0.0001	0.0001	0.0003	7.57e-05	6.276e-05	0.0001	8.277e-05	9.618e-05	0	0.0003	0	0	0	0	0.0001	0.0005	0	0.385	0.11015	T	0.209	0.27503	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	3.25	0.06762	T	-1.55	0.37566	N	0.067	0.03956	-0.9433	0.42089	T	0.014	0.05657	T	9	0.051776826	0.05111	T	.	.	.	0.163	0.42028	0.245	0.17984	0.0482279557977	0.04254	0.4172797370547663	0.41643	.	.	0.484316587448	0.36652	T	0.035809	0.23862	T	-0.538798	0.00341	T	-0.763413	0.02991	T	0.095128143119478	0.11813	T	0.764224	0.39120	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.27403	B	.;.	.;.	0.967822	0.13449	9.956	0.96959070253821844	0.31771	0.82671	0.41867	D	AEFDBCI	0.145368	0.26856	N	-0.387562014653474	0.25910	1.410159	-0.50152138149278	0.22112	1.199422	0.996910872949282	0.35113	0.495158	0.18159	0	0.61073	0.52368	0	0.535252	0.11790	0	0.638833	0.57524	0	.	.	5.14	-0.85	0.10177	2.228000	0.42625	0.421000	0.18220	0.672000	0.70159	0.994000	0.38300	0.011000	0.20116	0.001000	0.02609	0.1544:0.3959:0.4497:0.0	7.290	0.25536	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	4498.98	62	chr16	88437824	.	G	A	4498.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=1335;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.85;ReadPosRankSum=-8.300e-01;SOR=0.714	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,108,1355	20	0	1	0
chr16	88439246	88439246	G	A	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G11776A:p.E3926K,	Brittle cornea syndrome 1, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	1296819	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.955	D	.	.	0.825	N	0.895	L	2.03	T	-1.046	T	0.089	T	0.342	3.079	16.28	4.98	2.314	6.993	15.395	0.159	0.371197046393	.	.	0.0001	0.0005	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs773010511	3.076e-05	2.941e-05	2.258e-05	3.916e-05	0.0005	2.317e-05	2.059e-05	0.0003	0.0003	0.0005	0	0	2.798e-05	0	0	1.668e-05	5.174e-05	6.31e-05	0.0001	0.0001	0.0001	9.393e-05	0.0003	7.083e-05	5.741e-05	0.0002	0.0001	0.0003	0	0.0002	0	0.0002	0	0	1.47e-05	0	0	0.053	0.38863	T	0.052	0.48855	T	.	.	.	.	.	.	.	.	.	.	0.824754	0.28837	N	.	.	.	1.97	0.22067	T	-1.43	0.35194	N	0.153	0.33360	-1.0465	0.15389	T	0.089	0.34325	T	9	0.13751948	0.26159	T	0.371197	0.92751	D	0.159	0.41286	0.139	0.04277	0.0954503805726	0.09146	0.11461213344363748	0.11389	.	.	0.473471224308	0.35158	T	0.090523	0.38602	T	-0.320436	0.06862	T	-0.379988	0.35723	T	0.27811459173243	0.24092	T	0.729427	0.34485	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.43200	B	.;.	.;.	4.613461	0.73190	25.9	0.99718205887848399	0.81843	0.68488	0.33821	D	AEFBHCI	0.722738	0.67258	D	0.514788506153748	0.67962	5.152418	0.500453797053732	0.68023	5.162972	0.999375254465796	0.39355	0.700653	0.57754	0	0.588066	0.40923	0	0.717052	0.78885	0	0.699875	0.68795	0	.	.	4.98	4.98	0.65679	7.257000	0.77775	9.763000	0.81520	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.564000	0.30507	0.0:0.0:1.0:0.0	15.395	0.74501	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2687.98	119	chr16	88439246	.	G	A	2687.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=2509;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.19;ReadPosRankSum=-5.390e-01;SOR=0.724	GT:AD:DP:GQ:PL	0/0:110,0:110:99:0,120,1800	20	0	1	0
chr16	88534464	88534466	AAG	-	exonic	ZFPM1	.	nonframeshift deletion	ZFPM1:NM_153813:exon10:c.2506_2508del:p.K837del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs777639643	7.425e-07	1.368e-06	1.474e-06	0	9.41e-07	0	0	.	.	0	0	0	0	0	0	9.41e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1733.94	35	chr16	88534463	.	CAAG	C	1733.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.840;DP=829;ExcessHet=0.0000;FS=0.716;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.76;ReadPosRankSum=1.74;SOR=0.604	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1335	20	0	1	0
chr16	88577265	88577265	C	G	exonic	ZC3H18	.	nonsynonymous SNV	ZC3H18:NM_001294340:exon2:c.C142G:p.L48V	.	.	413	1107	2	0	0	2	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.001	B	0.003	B	0.259	N	1.000	N	1.61	L	1.54	T	-1.026	T	0.052	T	0.15	1.371	10.51	-1.9	-0.637	-1.229	6.301	0.010	0.00428242473985	7.7e-05	0.00119808	0.0009	0.0002	0	0	0	0	0	0.0066	0.0007309	113	154602	rs371740351	0.0004	0.0004	0.0003	0.0006	0.0063	0.0004	0.0004	0.0058	0.0057	2.988e-05	0	0	0	1.874e-05	0.0002	7.645e-05	0.0004	0.0063	0.0002	0.0002	0.0001	0.0004	0.0060	0.0002	0.0002	0.0043	0.0037	7.229e-05	0	0	0	0	0	0	8.825e-05	0	0.0060	0.082	0.91255	T	0.889	0.26386	T	0.001	0.07471	B	0.003	0.08700	B	0.258629	0.15360	N	0.636347	0.999999	0.08975	N	2.095	0.58118	M	1.53	0.30401	T	-0.55	0.21860	N	0.083	0.07398	-1.0265	0.21593	T	0.052	0.21921	T	10	0.0047850907	0.00101	T	0.004282	0.10373	T	0.010	0.01040	.	.	0.043077524339	0.03247	0.06307854009297596	0.06246	0.0181529329049	0.01774	0.430796653032	0.29317	T	0.032628	0.22570	T	-0.562048	0.00247	T	-0.576952	0.14818	T	0.0198137678743437	0.00683	T	0.720328	0.37414	T	0.04784187	0.08244	0.054356605	0.09333	0.04784187	0.08244	0.054356605	0.09333	-5.242	0.39366	T	.	.	0.062	0.01367	B	.;.;.	.;.;.	0.781626	0.11518	8.116	0.97022702883692602	0.32034	0.15624	0.19002	N	AEFBCI	0.091289	0.18492	N	-1.11748230113371	0.06332	0.2911887	-1.13668815139769	0.07009	0.3393893	0.999801398892853	0.43304	0.631515	0.41029	0	0.697927	0.68747	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.13	-1.9	0.07248	-0.764000	0.04841	-1.097000	0.06340	-0.834000	0.02848	0.000000	0.06391	0.000000	0.08366	0.414000	0.27095	0.0:0.3558:0.2427:0.4015	6.301	0.20321	958	0.09170	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1051.98	64	chr16	88577265	.	C	G	1051.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=1751;ExcessHet=0.0000;FS=0.717;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.69;ReadPosRankSum=0.578;SOR=0.843	GT:AD:DP:GQ:PL	0/0:107,0:107:99:0,120,1800	20	0	1	0
chr16	88647125	88647125	T	G	exonic	CYBA	.	nonsynonymous SNV	CYBA:NM_000101:exon3:c.A179C:p.K60T,	Chronic granulomatous disease, autosomal, due to deficiency of CYBA, Autosomal recessive	.	0	1516	6	0	0	6	0.00197498	.	.	247122	Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-negative|not_specified|not_provided|CYBA-related_disorder	MONDO:MONDO:0009308,MedGen:C1856255,OMIM:233690,Orphanet:379|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.12	T	0.003	B	0.005	B	0.386	N	1.000	N	1.04	L	-2.04	D	-0.776	T	0.300	T	0.489	1.850	12.15	-5.24	-1.076	-0.727	5.647	0.329	0.016166275187	0.0041	0.00199681	0.0039	0.0016	0.0055	0	0.0004	0.0056	0.0012	0.0007	0.0036675	567	154602	rs11547387	0.0057	0.0057	0.0058	0.0056	0.0067	0.0056	0.0055	0.0066	0.0066	0.0011	0.0060	0.0008	0	0.0005	0.0057	0.0067	0.0057	0.0008	0.0043	0.0043	0.0042	0.0045	0.0099	0.0040	0.0039	0.0086	0.0081	0.0015	0	0.0099	0.0009	0	0.0006	0.0170	0.0060	0.0071	0.0015	0.116	0.45039	T	0.212	0.46182	T	0.003	0.11197	B	0.005	0.11217	B	0.385923	0.04448	N	1.371070	1	0.08975	N	0.63	0.15941	N	-2.04	0.85703	D	-2.97	0.66085	D	0.237	0.27792	-0.7758	0.56537	T	0.300	0.67111	T	10	0.008750349	0.00198	T	0.016166	0.37293	T	0.329	0.65126	.	.	0.541648499649	0.53818	0.8292473251073803	0.82882	0.208325493003	0.23308	0.317980647087	0.13115	T	0.721247	0.92124	D	-0.552751	0.00281	T	-0.561075	0.16277	T	0.00472404585634092	0.00051	T	0.684832	0.29934	T	0.05433124	0.10408	0.052158862	0.08539	0.070885465	0.15649	0.07415533	0.16191	-3.16	0.11998	T	0.20250862961060195	0.26936	0.104	0.40032	B	.;.;.;.	.;.;.;.	-0.410024	0.02176	0.213	0.97876109954686652	0.36567	0.11738	0.16830	N	AEFDBCI	0.090286	0.18297	N	-1.27823964849651	0.03939	0.1768622	-1.34485410366052	0.03867	0.1812507	0.999996205130538	0.74766	0.751926	0.98777	0	0.639134	0.57113	0	0.643519	0.47002	0	0.562822	0.20929	0	.	.	4.61	-5.24	0.02576	-1.045000	0.03639	-3.897000	0.02466	-0.218000	0.08083	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.0:0.2744:0.2628:0.4628	5.647	0.16871	835	0.38313	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1158.98	42	chr16	88647125	.	T	G	1158.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.795e+00;DP=934;ExcessHet=0.0000;FS=0.745;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=1.57;SOR=0.563	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	20	0	1	0
chr16	88655724	88655724	C	T	exonic	MVD	.	nonsynonymous SNV	MVD:NM_002461:exon6:c.G610A:p.A204T,	Porokeratosis 7, multiple types, Autosomal dominant	.	424	1095	2	1	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.003	B	0.0	B	0.000	N	0.992	D	2.15	M	0.87	T	-1.017	T	0.106	T	0.17	1.093	9.462	1.2	0.061	0.645	9.191	0.141	0.0915916544069	7.8e-05	0.000199681	0.0002	0	0	0	0	0.0003	0	0.0001	9.06e-05	14	154602	rs112697935	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	9.598e-05	9.092e-05	8.462e-05	3.146e-05	2.682e-05	0	0	0.0005	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	7.706e-05	0.0001	7.213e-05	6.504e-05	5.317e-05	1.913e-05	1.03e-05	7.213e-05	0	0	0	0	0.0009	0	4.41e-05	0	0	0.071	0.35165	T	0.133	0.36101	T	0.003	0.11197	B	0.0	0.01387	B	0.000004	0.62929	N	0.104471	0.992161	0.41571	D	2.055	0.56616	M	0.87	0.46412	T	-0.7	0.19933	N	0.264	0.29889	-1.0172	0.24625	T	0.106	0.38661	T	10	0.023852855	0.00637	T	0.091592	0.75735	D	0.141	0.37795	.	.	0.104622674875	0.10061	0.4596309698777074	0.45881	0.0516142567597	0.05681	0.327381700277	0.14539	T	0.157549	0.50019	T	-0.356893	0.04308	T	-0.524727	0.19818	T	0.0429699830710888	0.04232	T	0.914909	0.70943	D	0.10749728	0.25419	0.15171356	0.35727	0.10749728	0.25419	0.15171356	0.35726	-9.771	0.72528	D	0.19214327076996848	0.25236	0.072	0.24054	B	.;.	.;.	1.205884	0.15982	12.24	0.95724477302600308	0.27653	0.54777	0.29699	D	AEFBHCI	0.226594	0.35052	N	-0.76613708139529	0.14199	0.7053701	-0.841646002821025	0.13488	0.6999816	0.999969667738395	0.48965	0.706548	0.73137	0	0.697927	0.68747	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.42	1.2	0.20181	0.519000	0.22570	-0.364000	0.09654	0.545000	0.25583	0.052000	0.21487	0.000000	0.08366	0.061000	0.16044	0.0:0.7428:0.0:0.2572	9.191	0.36357	835	0.38313	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1209.98	37	chr16	88655724	.	C	T	1209.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.904e+00;DP=873;ExcessHet=0.0000;FS=2.366;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.25;ReadPosRankSum=1.07;SOR=0.678	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,102,1530	20	0	1	0
chr16	88681183	88681183	C	T	exonic	SNAI3	.	nonsynonymous SNV	SNAI3:NM_178310:exon2:c.G608A:p.R203H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.855	M	0.33	T	0.031	D	0.443	T	0.556	5.136	32	4.64	2.289	5.438	16.621	0.447	0.177825772802	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1398855399	1.779e-05	1.779e-05	1.906e-05	1.65e-05	0.0003	1.238e-05	1.052e-05	6.099e-05	2.524e-05	0	0	0	2.519e-05	0	0.0003	1.799e-05	4.968e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.275	0.64647	M	0.33	0.58323	T	-4.99	0.82221	D	0.827	0.82257	0.031	0.82868	D	0.443	0.78026	T	10	0.8402941	0.83184	D	0.177826	0.85315	D	0.447	0.74866	0.662	0.79996	0.839593816689	0.83806	.	.	0.479342070191	0.46975	0.740215361118	0.73005	T	0.145651	0.48287	T	-0.0561097	0.43513	T	-0.149246	0.59311	T	0.995508313179016	0.87546	D	0.967253	0.88140	D	0.79160273	0.83373	0.7229096	0.83636	0.79160273	0.83375	0.7229096	0.83637	-10.713	0.78061	D	.	.	0.826	0.78546	P	.	.	5.760958	0.93429	33	0.99942227357740743	0.99824	0.89119	0.49395	D	ALL	0.683013	0.64584	D	0.76215350838089	0.83694	8.084933	0.687189150241627	0.81405	7.519073	1.0	0.98316	0.77792	0.99625	0	0.093493	0.02558	3	0.854111	0.99894	0	0.296957	0.05502	2	.	.	4.64	4.64	0.57399	7.342000	0.78550	7.648000	0.63548	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	16.621	0.84783	824	0.40336	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	687.98	36	chr16	88681183	.	C	T	687.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.910e-01;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.82;ReadPosRankSum=-8.680e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:56,32:88:99:702,0,1431	20	0	1	0
chr16	88681634	88681634	C	T	exonic	SNAI3	.	nonsynonymous SNV	SNAI3:NM_178310:exon2:c.G157A:p.G53S,	.	.	414	1096	10	2	0	14	0.00634633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.003	B	0.001	B	0.280	N	1.000	N	0.145	N	3.55	T	-0.925	T	0.008	T	0.053	0.751	7.979	-3.9	-0.323	-0.820	4.378	0.007	0.0042864543378	0.0002	0.000998403	0.0006	0.0001	0.0002	0	0	0.0007	0	0.0025	0.0005239	81	154602	rs45506693	0.0005	0.0005	0.0004	0.0006	0.0038	0.0005	0.0005	0.0034	0.0033	0.0001	0.0003	0.0068	0	0	0.0035	0.0002	0.0011	0.0038	0.0004	0.0004	0.0004	0.0004	0.0023	0.0003	0.0003	0.0013	0.0010	7.229e-05	0	0.0001	0.0066	0.0002	0	0.0170	0.0002	0.0005	0.0023	0.439	0.09291	T	0.501	0.11153	T	0.003	0.11197	B	0.001	0.04355	B	0.279685	0.03825	N	1.426480	1	0.08975	N	0.42	0.12520	N	3.55	0.04746	T	0.69	0.02195	N	0.085	0.06190	-0.9248	0.44886	T	0.008	0.02884	T	10	0.0032294095	0.00055	T	0.004286	0.10373	T	0.007	0.00512	.	.	0.0551355673512	0.04727	.	.	0.082201812116	0.09269	0.301113814116	0.10568	T	0.00812	0.07471	T	-0.745142	0.00019	T	-0.844595	0.01032	T	0.00284892537892234	0.00030	T	0.307569	0.05925	T	0.04210917	0.06324	0.037326425	0.03361	0.04210917	0.06324	0.037326425	0.03361	-3.416	0.15273	T	.	.	0.131	0.28203	B	.	.	-0.738204	0.01235	0.063	0.70291109780015038	0.09248	0.01800	0.05617	N	AEFDGBCI	0.045810	0.07534	N	-1.37615950517131	0.02862	0.1270242	-1.42634773366858	0.02991	0.1386766	0.999999948961246	0.74766	0.695654	0.57023	0	0.52208	0.09955	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.45	-3.9	0.03904	-0.687000	0.05257	-2.245000	0.04004	-2.889000	0.00164	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2485:0.2825:0.0:0.469	4.378	0.10714	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1478.98	36	chr16	88681634	.	C	T	1478.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.364e+00;DP=804;ExcessHet=0.0000;FS=2.830;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.90;ReadPosRankSum=-5.070e-01;SOR=1.034	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,111,1665	20	0	1	0
chr16	88714716	88714716	G	C	exonic	CTU2	.	nonsynonymous SNV	CTU2:NM_001318513:exon11:c.G1070C:p.C357S	.	.	419	1099	4	0	0	4	0.00181653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.999	D	0.964	D	0.000	D	1.000	N	1.7	L	2.37	T	-1.043	T	0.071	T	0.662	0.603	7.247	2.62	1.111	0.078	7.442	0.181	0.0297632856953	.	.	3.644e-05	0	0	0	0	3.343e-05	0	0.0001	2.59e-05	4	154602	rs756209152	1.442e-05	1.437e-05	9.559e-06	1.932e-05	0.0007	9.26e-06	7.86e-06	0.0002	0.0001	0	0	0	0	0	0.0007	7.207e-06	4.986e-05	6.981e-05	6.575e-06	6.571e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.158	0.49613	T	0.033	0.92824	D	0.434	0.36447	B	0.154	0.35748	B	0.000002	0.62929	D	0.102292	1	0.08975	N	2.445	0.70938	M	2.37	0.17113	T	-3.27	0.83357	D	0.428	0.48780	-1.0434	0.16294	T	0.071	0.29034	T	10	0.15364388	0.28997	T	0.029763	0.52214	D	0.181	0.45247	0.424	0.46857	0.130388298395	0.12655	0.528836146806168	0.52807	.	.	0.407748043537	0.26145	T	0.027878	0.47661	T	-0.225684	0.17223	T	-0.325287	0.41992	T	0.698529005050659	0.40649	D	0.411059	0.14445	T	0.22951375	0.45690	0.18122026	0.40971	0.22951375	0.45690	0.18122026	0.40970	-2.309	0.04604	T	0.4065511911995796	0.49754	0.122	0.51112	B	.;.;.;.	.;.;.;.	1.471478	0.18953	14.01	0.4414640646498067	0.03373	0.22405	0.21735	N	AEFGBCI	0.108815	0.21635	N	-0.654647472060173	0.17326	0.890543	-0.757879550988024	0.15529	0.8171489	0.999389653301171	0.39415	0.631515	0.41029	0	0.697927	0.68747	0	0.723109	0.80598	0	0.636168	0.56350	0	.	.	4.78	2.62	0.30337	0.795000	0.26632	5.409000	0.48533	0.640000	0.52149	0.004000	0.16614	1.000000	0.68203	0.001000	0.02609	0.0:0.185:0.6238:0.1912	7.442	0.26364	895	0.25842	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1070.98	98	chr16	88714716	.	G	C	1070.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.026;DP=2129;ExcessHet=0.0000;FS=3.567;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.39;ReadPosRankSum=0.914;SOR=1.077	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:117,0:117:99:.:.:0,120,1800	20	0	1	0
chr16	88714906	88714906	C	T	exonic	CTU2	.	nonsynonymous SNV	CTU2:NM_001318513:exon12:c.C1138T:p.R380C	.	.	422	1096	4	0	0	4	0.00182149	.	.	1336385	not_provided|not_specified|Congenital_anomaly_of_kidney_and_urinary_tract	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.992	D	0.000	D	1.000	D	1.1	L	0.37	T	-0.633	T	0.196	T	0.841	4.045	20.8	4.96	2.452	0.214	16.328	0.333	0.124010016904	0.0009	0.00139776	0.0008	0.0003	0.0005	0.0002	0	0.0011	0.0011	0.0007	0.0008021	124	154602	rs139862860	0.0010	0.0010	0.0010	0.0010	0.0030	0.0010	0.0010	0.0019	0.0015	0.0001	0.0010	0.0006	0.0001	9.608e-05	0.0030	0.0012	0.0009	0.0006	0.0009	0.0009	0.0010	0.0008	0.0025	0.0008	0.0007	0.0019	0.0017	0.0002	0	0.0025	0.0003	0	0	0.0034	0.0012	0.0005	0.0004	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.97	0.77487	D	0.000005	0.62929	D	0.059199	1	0.81001	D	2.475	0.71894	M	0.37	0.57729	T	-5.55	0.96495	D	0.669	0.68429	-0.6335	0.63422	T	0.196	0.55100	T	10	0.03499955	0.01730	T	0.12401	0.80529	D	0.333	0.65522	.	.	0.693269563663	0.69063	0.5870375235625842	0.58633	.	.	0.528743028641	0.42857	T	0.104731	0.67706	T	-0.0858011	0.38768	T	0.0584245	0.74141	D	0.0607768665229965	0.07290	T	0.965603	0.87267	D	0.49833596	0.66998	0.4300465	0.66668	0.4568602	0.64476	0.42384407	0.66243	-9.622	0.76374	D	0.7428548585002239	0.82494	0.258	0.69979	B	.;.;.;.	.;.;.;.	4.457842	0.69356	25.4	0.9992298225199141	0.98852	0.46456	0.27764	N	AEFBHCI	0.320989	0.42392	N	0.224462922010875	0.52386	3.413175	0.165119332745765	0.47949	3.017584	0.999976245816698	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.96	4.96	0.65153	0.470000	0.21795	3.910000	0.40403	0.599000	0.40250	0.135000	0.23427	1.000000	0.68203	0.852000	0.40310	0.0:1.0:0.0:0.0	16.328	0.82828	895	0.25842	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	828.98	49	chr16	88714906	.	C	T	828.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.481e+00;DP=1189;ExcessHet=0.0000;FS=8.510;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=-2.200e-01;SOR=0.520	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1247	20	0	1	0
chr16	88726377	88726377	A	C	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon27:c.T3875G:p.F1292C,	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	.	417	1104	1	0	0	1	0.000452694	.	.	1883631	Inborn_genetic_diseases|Lymphatic_malformation_6|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014797,MedGen:C4225184,OMIM:616843|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.971	D	0.023	N	1.000	D	2.805	M	2.18	T	-0.905	T	0.140	T	0.883	3.152	16.54	3.67	0.838	6.618	9.566	0.417	0.315154546187	.	.	0.0001	0	0	0	0	0.0001	0	0.0001	1.94e-05	3	154602	rs778813372	7.295e-05	7.046e-05	7.48e-05	7.106e-05	0.0001	6.113e-05	5.705e-05	6.606e-05	6.091e-05	0	2.801e-05	0	0.0001	0	0	7.971e-05	6.898e-05	8.835e-05	4.6e-05	4.597e-05	6.424e-05	2.69e-05	9.653e-05	2.109e-05	1.527e-05	3.249e-05	1.915e-05	9.653e-05	0	0	0	0	0	0	4.41e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.971	0.72444	D	0.023250	0.26477	N	0.427926	0.999395	0.46900	D	3.125	0.87999	M	2.18	0.18875	T	-7.11	0.93999	D	0.892	0.89131	-0.9051	0.47435	T	0.140	0.45866	T	10	0.8973725	0.89093	D	0.315155	0.91306	D	0.417	0.72705	0.622	0.75690	0.296721761885	0.29290	0.7529840936564749	0.75245	.	.	0.612117528915	0.54616	T	0.604055	0.87353	D	0.0908151	0.63282	D	0.0773163	0.75399	D	0.636692456467547	0.37897	D	0.955504	0.83071	D	0.66927165	0.76394	0.5790507	0.75604	0.66927165	0.76395	0.5790507	0.75605	-11.767	0.83697	D	0.3455254332899889	0.44305	0.389	0.58925	A	.	.	4.431241	0.68724	25.3	0.99194614814352688	0.55083	0.97655	0.76193	D	AEFBI	0.847917	0.76475	D	0.571605410910855	0.71407	5.646161	0.463580061333278	0.65594	4.843482	0.962547011834185	0.28630	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.76	3.67	0.41236	5.761000	0.68452	7.052000	0.57375	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.9142:0.0:0.0857:0.0	9.566	0.38565	873	0.30802	Piezo domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1762.98	35	chr16	88726377	.	A	C	1762.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.821;DP=842;ExcessHet=0.0000;FS=0.721;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.32;ReadPosRankSum=-9.610e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1245	20	0	1	0
chr16	88732430	88732430	C	T	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon21:c.G2896A:p.V966M,	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1781262	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.24	T	0.982	D	0.401	B	0.234	N	1.000	D	1.03	L	0.99	T	-1.110	T	0.072	T	0.294	0.937	8.816	2.24	0.528	0.324	6.575	0.025	0.476174032158	.	.	.	.	.	.	.	.	.	.	.	.	.	rs955881366	3.149e-05	3.01e-05	3.107e-05	3.192e-05	8.397e-05	2.387e-05	2.126e-05	2.226e-05	1.217e-05	6.332e-05	2.803e-05	0	8.397e-05	0	0	1.947e-05	0.0002	5.049e-05	3.942e-05	3.94e-05	1.284e-05	6.723e-05	0.0004	1.715e-05	1.129e-05	6.801e-05	2.847e-05	4.826e-05	0	0	0	0.0004	0	0	2.94e-05	0	0	0.304	0.14303	T	0.003	0.76473	D	0.982	0.60036	D	0.401	0.44513	B	0.233572	0.15865	N	0.622148	0.999507	0.21084	N	2.28	0.64929	M	0.99	0.41750	T	-0.68	0.19509	N	0.398	0.43899	-1.1097	0.03096	T	0.072	0.29130	T	10	0.19280681	0.35025	T	0.476174	0.94763	D	0.053	0.14996	.	.	0.0934897674506	0.08844	0.46215571002310696	0.46133	.	.	0.6915615201	0.65930	T	0.007896	0.07275	T	-0.385051	0.02894	T	-0.489154	0.23479	T	0.128229963059526	0.15217	T	0.827017	0.49049	T	0.038312484	0.05080	0.041838747	0.04846	0.038312484	0.05079	0.041838747	0.04846	-6.704	0.51840	T	0.2910657172773112	0.38762	0.287	0.51891	B	.	.	2.457603	0.31654	18.81	0.99221282731843141	0.55901	0.19593	0.20721	N	AEFDGBHCI	0.082283	0.16659	N	-0.310965223703567	0.28730	1.587139	-0.389676383155318	0.25303	1.390719	0.999994309456818	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.717052	0.78885	0	0.714379	0.83352	0	.	.	4.27	2.24	0.27264	0.219000	0.17426	0.790000	0.21560	0.524000	0.24156	0.032000	0.20554	0.230000	0.23777	0.130000	0.19568	0.1471:0.6865:0.0:0.1664	6.575	0.21753	867	0.32089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1069.98	35	chr16	88732430	.	C	T	1069.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.340e-01;DP=783;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=1.65;SOR=0.686	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1243	20	0	1	0
chr16	88733987	88733987	-	CTG	exonic	PIEZO1	.	nonframeshift insertion	PIEZO1:NM_001142864:exon17:c.2247_2248insCAG:p.Q749_E750insQ,	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1886238	not_provided|PIEZO1-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0042	0	0	0	0	0.0002	0	0.0094	0.0004528	70	154602	rs751621696	0.0004	0.0004	0.0002	0.0006	0.0057	0.0004	0.0003	0.0052	0.0050	0	8.719e-05	0	0.0002	2.128e-05	0	4.949e-05	0.0003	0.0057	0.0002	0.0002	0.0001	0.0004	0.0060	0.0002	0.0002	0.0043	0.0037	0	0	0.0002	0	0.0002	0	0	2.956e-05	0	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1431.94	44	chr16	88733987	.	C	CCTG	1431.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.191e+00;DP=880;ExcessHet=0.0000;FS=1.881;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.36;ReadPosRankSum=0.973;SOR=0.990	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1425	20	0	1	0
chr16	88737956	88737956	C	T	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon8:c.G998A:p.R333H,	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	.	425	1083	14	0	0	14	0.00642202	.	.	703893	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.58	T	0.039	B	0.005	B	.	.	1.000	N	-0.69	N	-0.66	T	-1.032	T	0.078	T	0.102	1.238	10.03	0.878	-0.060	-0.429	8.624	0.083	.	0.0079	0.00798722	0.0055	0.0135	0.0213	0	0	0.0063	0.0069	0.0023	0.0018111	280	154602	rs139099911	0.0056	0.0053	0.0058	0.0055	0.0137	0.0055	0.0055	0.0127	0.0122	0.0137	0.0080	0.0037	0.0002	0.0011	0.0127	0.0059	0.0067	0.0021	0.0082	0.0082	0.0087	0.0077	0.0139	0.0078	0.0077	0.0130	0.0126	0.0139	0	0.0106	0.0012	0	0.0007	0.0238	0.0067	0.0118	0.0014	0.659	0.04713	T	0.192	0.28300	T	0.039	0.21116	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0.255	0.09829	N	-0.66	0.72348	T	-0.97	0.25770	N	0.19	0.20793	-1.0317	0.19905	T	0.078	0.31072	T	9	0.0027179718	0.00042	T	.	.	.	0.083	0.24192	.	.	0.082315109003	0.07666	0.30635840609970894	0.30548	.	.	0.269693553448	0.06102	T	0.002959	0.02360	T	-0.545696	0.00310	T	-0.543657	0.17939	T	4.05406462959945e-05	0.00000	T	0.627137	0.24302	T	0.018275071	0.00348	0.023404123	0.00354	0.018275071	0.00348	0.023404123	0.00354	-3.628	0.18263	T	0.27473062936333154	0.36900	0.077	0.06479	B	.	.	0.091030	0.04949	1.517	0.783837323093733	0.12277	0.04719	0.10413	N	AEFDGBCI	0.110113	0.21848	N	-1.37552186590158	0.02868	0.1273059	-1.31995480069791	0.04172	0.1962572	0.895875410947873	0.25964	0.741868	0.97996	0	0.577304	0.33150	0	0.774882	0.98623	0	0.691587	0.68394	0	.	.	5.21	0.878	0.18285	-0.415000	0.07170	-1.706000	0.04878	-0.927000	0.02165	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6842:0.0:0.3158	8.624	0.33039	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	532.98	50	chr16	88737956	.	C	T	532.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.052;DP=1239;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.92;ReadPosRankSum=-2.030e-01;SOR=0.787	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	20	0	1	0
chr16	88737957	88737957	G	A	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon8:c.C997T:p.R333C,	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	.	425	1096	1	0	0	1	0.000455996	.	.	726911	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.039	B	0.005	B	.	.	1.000	N	0	N	-0.72	T	-0.997	T	0.094	T	0.427	2.340	13.78	4.19	2.416	0.482	13.814	0.110	.	.	0.00239617	0.0014	0	0	0.0195	0	0.0010	0.0137	0.0012	0.0003428	53	154602	rs143004911	0.0008	0.0008	0.0008	0.0009	0.0204	0.0008	0.0008	0.0192	0.0187	9.515e-05	0.0003	0.0029	0.0204	0	0	0.0001	0.0013	0.0010	0.0008	0.0008	0.0007	0.0008	0.0150	0.0006	0.0006	0.0123	0.0114	7.215e-05	0	0.0004	0.0026	0.0150	0	0	0.0002	0.0009	0.0006	0.187	0.21385	T	0.032	0.53426	D	0.039	0.21116	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	2.045	0.56016	M	-0.72	0.72994	T	-1.85	0.43334	N	0.555	0.58031	-0.9968	0.30810	T	0.094	0.35524	T	9	0.0040435493	0.00079	T	.	.	.	0.237	0.54074	.	.	0.309943084671	0.30607	0.44113100349280254	0.44030	.	.	0.292974889278	0.09357	T	0.009063	0.08271	T	-0.352474	0.04573	T	-0.267404	0.48082	T	0.0411345874369868	0.03896	T	0.666933	0.27600	T	0.102007024	0.24099	0.07554215	0.16643	0.102007024	0.24099	0.07554215	0.16642	-5.932	0.45707	T	0.4302056291097098	0.51746	0.125	0.26294	B	.	.	2.755678	0.36129	20.2	0.99093370185399532	0.52272	0.17326	0.19788	N	AEFDGBCI	0.211081	0.33690	N	-0.720290145267236	0.15452	0.7788359	-0.647638031883569	0.18276	0.9756255	0.989436683447456	0.31825	0.741868	0.97996	0	0.702456	0.74545	0	0.774882	0.98623	0	0.691587	0.68394	0	.	.	5.21	4.19	0.48645	1.160000	0.31372	2.908000	0.35491	0.676000	0.76740	0.071000	0.22100	0.252000	0.23925	0.004000	0.06068	0.0:0.0:0.8139:0.1861	13.814	0.62773	856	0.34373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	784.98	50	chr16	88737957	.	G	A	784.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.48;DP=1205;ExcessHet=0.0000;FS=1.053;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.02;ReadPosRankSum=-1.402e+00;SOR=0.944	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	20	0	1	0
chr16	88738240	88738240	C	T	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon7:c.G835A:p.G279S,	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	.	411	1108	3	0	0	3	0.00135196	.	.	726912	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.7	T	0.002	B	0.001	B	.	.	1.000	N	-0.49	N	-0.38	T	-0.990	T	0.022	T	0.022	0.585	7.159	-5.0	-1.319	-0.359	9.919	0.042	.	.	0.00359425	0.0033	0.0148	0.0069	0	0	0	0	0.0037	0.0005304	82	154602	rs188815734	0.0006	0.0006	0.0006	0.0007	0.0097	0.0006	0.0006	0.0088	0.0085	0.0097	0.0009	3.973e-05	0.0003	2.971e-05	0.0018	0.0001	0.0011	0.0037	0.0030	0.0030	0.0031	0.0030	0.0097	0.0028	0.0027	0.0090	0.0086	0.0097	0	0.0014	0	0.0006	0	0	0.0002	0.0019	0.0039	0.58	0.05992	T	0.292	0.20877	T	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.38	0.12130	N	-0.38	0.69027	T	1.01	0.01387	N	0.017	0.00226	-0.9904	0.32500	T	0.022	0.09193	T	9	0.0032779276	0.00056	T	.	.	.	0.042	0.11227	.	.	0.0675242888579	0.06100	0.1771256479925839	0.17631	.	.	0.347822785378	0.17601	T	0.002529	0.01924	T	-0.643481	0.00079	T	-0.68913	0.06439	T	0.00131227781949194	0.00013	T	0.751225	0.37284	T	0.015154024	0.00125	0.047152527	0.06730	0.015154024	0.00125	0.047152527	0.06729	-0.231	0.00442	T	0.08467022450052335	0.04696	0.069	0.03128	B	.	.	-0.088328	0.03712	0.759	0.94037899030364402	0.24158	0.01226	0.04342	N	AEFBCI	0.041077	0.06195	N	-1.00370575188657	0.08526	0.4001146	-1.12078851909607	0.07303	0.3547438	0.983338816414357	0.30543	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.78	-5.0	0.02777	-1.065000	0.03569	-2.459000	0.03728	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.145000	0.20128	0.0:0.2756:0.1034:0.6211	9.919	0.40624	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1519.98	90	chr16	88738240	.	C	T	1519.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.60;DP=1394;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.07;ReadPosRankSum=0.704;SOR=0.697	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	20	0	1	0
chr16	88738430	88738430	G	C	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon7:c.C645G:p.H215Q,	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	.	407	1109	6	0	0	6	0.00269784	.	.	433815	PIEZO1-related_disorder|Inborn_genetic_diseases|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.3	T	0.011	B	0.004	B	.	.	1.000	D	0.895	L	-0.5	T	-1.001	T	0.089	T	0.12	1.678	11.57	-4.05	-0.411	1.166	2.166	0.029	0.274735076627	.	0.000599042	0.0026	0	0	0	0	0	0	0.0055	0.0003299	51	154602	rs559847737	0.0003	0.0003	0.0002	0.0005	0.0055	0.0003	0.0003	0.0050	0.0049	0	0	0	0	0	0.0012	1.947e-05	0.0003	0.0055	0.0002	0.0002	0.0001	0.0003	0.0058	0.0001	0.0001	0.0041	0.0036	0	0	0	0	0	0	0	0	0.0005	0.0058	0.322	0.13479	T	0.145	0.33000	T	0.011	0.15914	B	0.004	0.10090	B	.	.	.	.	0.947055	0.26612	N	1.33	0.33268	L	-0.5	0.70480	T	-0.52	0.16187	N	0.185	0.20129	-1.0014	0.29516	T	0.089	0.34243	T	9	0.0074704587	0.00170	T	0.274735	0.90012	D	0.079	0.23065	0.208	0.12497	0.0675242888579	0.06100	0.1785156411271724	0.17770	.	.	0.50876057148	0.40049	T	0.003106	0.02504	T	-0.479354	0.00746	T	-0.459831	0.26617	T	0.0195426641500316	0.00658	T	0.674133	0.28269	T	0.028805776	0.02275	0.044203866	0.05673	0.028805776	0.02275	0.044203866	0.05672	-1.116	0.01137	T	0.14444090841553692	0.16502	0.227	0.45966	B	.	.	1.714927	0.21836	15.37	0.91531651829458138	0.20808	0.37225	0.25713	N	AEFGBCI	0.081001	0.16386	N	-0.38044629255213	0.26166	1.425997	-0.432489721075687	0.24049	1.314836	0.999320206672254	0.39149	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.54	-4.05	0.03730	0.523000	0.22632	0.148000	0.15257	0.676000	0.76740	0.998000	0.41325	0.851000	0.27392	0.799000	0.37691	0.3463:0.3239:0.227:0.1027	2.166	0.03603	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1090.98	82	chr16	88738430	.	G	C	1090.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=1742;ExcessHet=0.0000;FS=3.006;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.81;ReadPosRankSum=-5.250e-01;SOR=1.096	GT:AD:DP:GQ:PL	0/0:114,0:114:99:0,120,1800	20	0	1	0
chr16	88738601	88738601	G	A	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon6:c.C601T:p.R201W,	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2406063	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.999	D	0.893	P	.	.	0.995	N	1.04	L	-0.7	T	-0.690	T	0.347	T	0.583	2.540	14.45	2.21	1.037	0.379	10.535	0.018	0.80390158877	.	.	.	.	.	.	.	.	.	.	.	.	.	rs924417840	1.012e-05	9.577e-06	1.284e-05	7.326e-06	1.298e-05	5.87e-06	4.6e-06	7.53e-06	5.89e-06	0	0	0	0	0	0	1.298e-05	0	0	1.971e-05	1.97e-05	1.285e-05	2.69e-05	4.411e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	0.002	0.72154	D	0.001	0.83351	D	0.999	0.77913	D	0.893	0.63340	P	.	.	.	.	1	0.08975	N	2.52	0.73523	M	-0.7	0.72785	T	-4.45	0.77717	D	0.425	0.46462	-0.6898	0.60917	T	0.347	0.71139	T	9	0.5815054	0.65875	D	0.803902	0.98467	D	0.315	0.63694	0.511	0.60846	0.147330786459	0.14319	0.5459875984122878	0.54524	.	.	0.677153468132	0.63861	T	0.05326	0.29392	T	-0.0643909	0.42219	T	-0.207725	0.53911	T	0.813929975032806	0.47328	D	0.911709	0.68653	D	0.082206085	0.18926	0.1220075	0.29434	0.082206085	0.18926	0.1220075	0.29433	-8.036	0.61316	D	0.3541450005149689	0.45112	0.211	0.43855	B	.	.	3.560540	0.50099	22.9	0.99808323238403629	0.89264	0.15034	0.18711	N	AEFDGBHCI	0.224766	0.34895	N	-0.265148779335271	0.30504	1.701451	-0.458470048160821	0.23309	1.270444	0.999886889062437	0.44867	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.4	2.21	0.27042	0.341000	0.19652	3.361000	0.37860	0.676000	0.76740	0.000000	0.06391	1.000000	0.68203	0.017000	0.10941	0.0:0.0:0.407:0.593	10.535	0.44187	856	0.34373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1690.98	67	chr16	88738601	.	G	A	1690.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=1043;ExcessHet=0.0000;FS=6.991;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.09;ReadPosRankSum=0.552;SOR=0.917	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr16	88804016	88804016	C	T	exonic	CDT1	.	nonsynonymous SNV	CDT1:NM_030928:exon1:c.C185T:p.A62V,	Meier-Gorlin syndrome 4, Autosomal recessive	.	23	1495	4	0	0	4	0.00133601	.	.	429858	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.31	T	0.063	B	0.026	B	0.223	U	1.000	N	0.695	N	0.12	T	-1.014	T	0.125	T	0.1	2.868	15.55	1.72	0.701	-0.019	6.368	0.016	.	.	0.00399361	0.0022	0	0	0	.	0.0028	0.0204	0.0018	0.0004528	70	154602	rs561655241	0.0031	0.0030	0.0032	0.0030	0.0381	0.0030	0.0030	0.0362	0.0355	7.642e-05	0.0074	0.0013	0.0381	0.0500	0.0008	0.0007	0.0039	0.0022	0.0073	0.0073	0.0040	0.0107	0.0199	0.0069	0.0068	0.0168	0.0156	0.0002	0	0.0088	0.0012	0.0199	0.0685	0	0.0016	0.0024	0.0029	0.275	0.15770	T	0.304	0.20100	T	0.063	0.23376	B	0.026	0.20792	B	0.223214	0.03469	U	1.694100	1	0.08975	N	1.525	0.38595	L	0.12	0.61089	T	-0.93	0.24898	N	0.081	0.05670	-1.0141	0.25625	T	0.125	0.42987	T	10	0.0029655993	0.00048	T	.	.	.	0.016	0.02506	.	.	0.788843201971	0.78689	0.15653103841063754	0.15574	1.24358563455	0.81613	0.81175994873	0.83762	D	0.048771	0.28114	T	-0.528107	0.00394	T	-0.514446	0.20860	T	0.0190828662680043	0.00616	T	0.525248	0.17252	T	0.039123353	0.05343	0.036193017	0.03018	0.039123353	0.05343	0.036193017	0.03018	-5.121	0.38128	T	.	.	0.096	0.15475	B	.	.	2.036367	0.25880	16.92	0.99299389085359735	0.58577	0.00920	0.03580	N	AEFDGBHCI	0.025633	0.01789	N	-0.935554794827287	0.10020	0.4768428	-0.944098751088034	0.11060	0.5611513	0.999999853437024	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.375	0.06713	1	.	.	3.83	1.72	0.23498	1.856000	0.39028	1.322000	0.25609	0.399000	0.20540	0.003000	0.16062	0.002000	0.18203	0.012000	0.09680	0.0:0.6961:0.1917:0.1122	6.368	0.20670	793	0.45818	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	300.98	22	chr16	88804016	.	C	T	300.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=610;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.58;ReadPosRankSum=-2.257e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1163	20	0	1	0
chr16	88807362	88807362	C	T	exonic	CDT1	.	nonsynonymous SNV	CDT1:NM_030928:exon9:c.C1357T:p.R453W,	Meier-Gorlin syndrome 4, Autosomal recessive	.	0	1503	17	2	0	21	0.00693756	.	.	429864	not_specified|Meier-Gorlin_syndrome_4|not_provided	MedGen:CN169374|MONDO:MONDO:0013431,MedGen:C3151120,OMIM:613804,Orphanet:2554|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	0.994	D	2.835	M	-1.89	D	0.236	D	0.703	D	0.932	2.702	15.00	0.746	0.282	3.000	4.433	0.591	0.196229013514	0.0002	0.00119808	0.0015	0.0002	0.0004	0	0	0.0002	0.0024	0.0097	0.0012613	195	154602	rs200672589	0.0007	0.0007	0.0004	0.0010	0.0100	0.0007	0.0007	0.0095	0.0093	5.975e-05	0.0001	0	0	1.924e-05	0.0017	8.994e-05	0.0009	0.0100	0.0004	0.0004	0.0003	0.0006	0.0087	0.0003	0.0003	0.0066	0.0059	2.405e-05	0	6.532e-05	0	0	0	0	0.0002	0.0005	0.0087	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000011	0.62929	D	0.064498	0.994457	0.42288	D	3.04	0.86592	M	-1.89	0.84557	D	-6.96	0.93509	D	0.944	0.95139	0.236	0.86517	D	0.703	0.89779	D	10	0.044795364	0.03478	T	0.196229	0.86468	D	0.591	0.83691	.	.	0.966768201255	0.96641	0.692137122156209	0.69153	0.0957176713652	0.10811	0.487810194492	0.37135	T	0.678472	0.90533	D	0.0893022	0.63112	D	0.362749	0.90804	D	0.261758791827368	0.23392	T	0.907609	0.67324	D	0.8409009	0.86673	0.7466684	0.85026	0.8409009	0.86674	0.7466684	0.85027	-9.535	0.71076	D	0.8500032524423916	0.91640	0.141	0.30971	B	.	.	4.595256	0.72728	25.9	0.99750430590642192	0.84228	0.97147	0.72965	D	AEFDBHCI	0.482043	0.52308	N	0.00257246074425099	0.41972	2.520293	-0.209665185033156	0.31187	1.762707	0.999993722833189	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.48	0.746	0.17514	3.144000	0.50312	3.284000	0.37253	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.746000	0.35646	0.2042:0.5621:0.0992:0.1345	4.433	0.10959	824	0.40336	DNA replication factor Cdt1, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	545.98	39	chr16	88807362	.	C	T	545.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.341;DP=759;ExcessHet=0.0000;FS=2.259;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.93;ReadPosRankSum=-4.200e-02;SOR=0.434	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1083	20	0	1	0
chr16	88811562	88811562	C	T	exonic	APRT	.	nonsynonymous SNV	APRT:NM_000485:exon2:c.G175A:p.D59N	Adenine phosphoribosyltransferase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1403155	Adenine_phosphoribosyltransferase_deficiency|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723,Orphanet:976|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.897	P	0.000	D	1.000	D	2.715	M	-3.76	D	1.071	D	0.981	D	0.259	5.033	29.7	3.67	0.931	2.654	11.341	0.783	0.974317660148	.	.	0.0002	0	0	0	0	0.0002	0.0039	0.0003	5.17e-05	8	154602	rs768268700	4.845e-05	4.994e-05	3.987e-05	5.714e-05	0.0001	3.905e-05	3.582e-05	8.219e-05	6.411e-05	0	0	0.0012	2.572e-05	0	0	1.538e-05	0.0002	0.0001	4.595e-05	4.593e-05	3.853e-05	5.37e-05	0.0002	2.107e-05	1.526e-05	.	.	0	0	0	0.0012	0.0002	0	0	1.47e-05	0	0.0002	0.043	0.68238	D	0.003	0.79402	D	1.0	0.90584	D	0.897	0.63631	P	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	2.62	0.76659	M	-3.76	0.99530	D	-4.1	0.77637	D	0.348	0.38950	1.071	0.98609	D	0.981	0.99427	D	10	0.6448149	0.69264	D	0.974318	0.99851	D	0.783	0.92787	0.716	0.85141	0.952608595113	0.95211	0.8458000947612423	0.84541	0.580823813372	0.53909	0.646812260151	0.59532	T	0.891441	0.97798	D	0.00794731	0.52744	T	-0.0110257	0.69618	D	0.763430237770081	0.44050	D	0.939106	0.94607	D	0.75520587	0.81171	0.5836671	0.75861	0.75520587	0.81173	0.5836671	0.75862	-9.194	0.68937	D	0.2737703111065081	0.36787	0.222	0.57392	B	.;.;.;.	.;.;.;.	4.508037	0.70568	25.5	0.99840019621282428	0.92057	0.94417	0.61099	D	ALL	0.527754	0.54957	D	0.447303525196089	0.64050	4.65108	0.36399564136371	0.59354	4.112656	0.999999999999995	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.63	3.67	0.41236	1.651000	0.36918	4.616000	0.44056	0.549000	0.26987	0.992000	0.37556	1.000000	0.68203	0.659000	0.32940	0.0:0.9094:0.0:0.0905	11.341	0.48770	846	0.36215	Phosphoribosyltransferase domain|Phosphoribosyltransferase domain;Phosphoribosyltransferase domain|Phosphoribosyltransferase domain;.;Phosphoribosyltransferase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	474.98	37	chr16	88811562	.	C	T	474.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.350e-01;DP=784;ExcessHet=0.0000;FS=6.129;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.90;ReadPosRankSum=0.021;SOR=0.724	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1391	20	0	1	0
chr16	88856861	88856861	G	A	exonic	GALNS	.	nonsynonymous SNV	GALNS:NM_000512:exon1:c.C17T:p.A6V,	Mucopolysaccharidosis IVA, Autosomal recessive	.	8	1513	1	0	0	1	0.00033036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.414	B	0.049	B	0.001	N	1.000	N	0	N	-3.55	D	-0.133	T	0.561	D	0.112	4.261	22.2	-3.38	-0.478	-0.197	0.818	0.168	0.97495234436	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1408119824	1.471e-06	5.472e-06	1.453e-06	1.491e-06	2.976e-05	2.5e-07	9e-08	.	.	0	2.976e-05	0	0	0	0	9.341e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.32769	T	0.014	0.92824	D	0.001	0.07471	B	0.0	0.01387	B	0.001153	0.00745	N	5.221570	1	0.19486	N	0	0.06538	N	-3.9	0.96015	D	-0.1	0.55821	N	0.062	0.11340	-0.1331	0.79329	T	0.561	0.84036	D	10	0.19139788	0.34824	T	0.974952	0.99856	D	0.168	0.42943	0.385	0.40460	0.75733315783	0.75513	0.45761997194399606	0.45679	0.0964755797854	0.10890	0.721707463264	0.70294	T	0.228794	0.71801	T	0.0620743	0.59873	T	-0.148611	0.59366	T	0.0916632816921962	0.11414	T	0.513449	0.16498	T	0.04027016	0.05716	0.07204775	0.15499	0.04027016	0.05716	0.07204775	0.15498	-4.136	0.25819	T	.	.	0.188	0.53762	B	.;.;.	.;.;.	1.573381	0.20139	14.61	0.99269894918618995	0.57525	0.52739	0.29203	D	ALL	0.045821	0.07537	N	-1.12172173680314	0.06258	0.2875947	-1.17014721705297	0.06413	0.3086475	0.999999999348137	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.239995	0.05000	1	0.372554	0.06265	0	.	.	3.33	-3.38	0.04577	-0.627000	0.05618	0.065000	0.14184	0.460000	0.21577	0.000000	0.06391	0.000000	0.08366	0.794000	0.37478	0.3043:0.3406:0.1846:0.1704	0.818	0.01035	889	0.27310	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	692.98	33	chr16	88856861	.	G	A	692.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.400e-01;DP=781;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=3.06;SOR=0.844	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1040	20	0	1	0
chr16	88865043	88865043	T	A	exonic	PABPN1L	.	nonsynonymous SNV	PABPN1L:NM_001080487:exon6:c.A545T:p.K182M	.	.	288	1233	1	0	0	1	0.000405351	.	.	2394326	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.985	D	0.000	D	1.000	D	3.095	M	-1.08	T	0.554	D	0.680	D	0.387	4.389	23.2	5.32	2.006	2.894	14.912	0.727	0.513075140086	.	.	5.309e-05	0	0.0002	0	0	6.431e-05	0	0	3.23e-05	5	154602	rs756250744	1.726e-05	1.779e-05	1.919e-05	1.529e-05	0.0002	1.185e-05	1.001e-05	1.302e-05	1.112e-05	0	2.318e-05	0	0	0	0.0002	1.989e-05	1.668e-05	0	1.976e-05	1.971e-05	2.575e-05	1.349e-05	4.417e-05	5.25e-06	2.46e-06	1.173e-05	6.25e-06	0	0	0	0	0	0	0	4.417e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	0.883	0.63424	P	0.747	0.71530	P	0.000001	0.62929	D	0.095649	0.999834	0.81001	D	2.435	0.70606	M	-1.08	0.77078	T	-5.56	0.86296	D	0.521	0.58543	0.554	0.91282	D	0.680	0.88918	D	10	0.83813006	0.82967	D	0.513075	0.95331	D	0.727	0.90413	0.577	0.70217	0.659234351692	0.65638	0.6238651669202235	0.62319	0.0618784989107	0.06891	0.459413230419	0.33229	T	0.13362	0.46440	T	-0.0803413	0.39660	T	-0.168538	0.57577	T	0.830841660499573	0.48596	D	0.977802	0.93511	D	0.6564471	0.75708	0.65440506	0.79769	0.6564471	0.75709	0.65440506	0.79770	-12.439	0.86924	D	.	.	0.895	0.82415	P	.;.	.;.	4.345849	0.66707	25.0	0.99589553627434713	0.73513	0.97090	0.72631	D	AEFDBI	0.722228	0.67223	D	0.672943297571449	0.77860	6.756749	0.616705913995686	0.76154	6.438737	0.996116333268063	0.34533	0.580535	0.33130	0	0.514364	0.08380	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.32	5.32	0.75377	2.988000	0.49074	1.354000	0.25830	-0.196000	0.09079	1.000000	0.71638	1.000000	0.68203	0.527000	0.29637	0.0:0.0:0.0:1.0	14.912	0.70411	873	0.30802	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	954.98	36	chr16	88865043	.	T	A	954.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.343e+00;DP=899;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.47;ReadPosRankSum=-1.136e+00;SOR=0.658	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr16	88865083	88865083	G	A	exonic	PABPN1L	.	nonsynonymous SNV	PABPN1L:NM_001080487:exon6:c.C505T:p.R169C	.	.	319	1201	1	1	0	3	0.0012474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.99	D	0.86	P	0.477	N	1.000	N	1.58	L	2.34	T	-0.996	T	0.039	T	0.324	0.497	6.694	-5.11	-0.853	0.128	0.613	0.106	.	0.0035	0.00299521	0.0055	0.0017	0.0112	0	0.0018	0.0080	0.0153	0.0008	0.0030207	467	154602	rs148432784	0.0058	0.0058	0.0060	0.0056	0.0069	0.0057	0.0057	0.0068	0.0068	0.0011	0.0065	0.0009	2.605e-05	0.0010	0.0010	0.0069	0.0049	0.0006	0.0044	0.0044	0.0045	0.0044	0.0103	0.0041	0.0040	0.0090	0.0085	0.0012	0	0.0103	0.0009	0	0.0014	0	0.0063	0.0081	0.0006	0.09	0.31987	T	0.124	0.35455	T	0.99	0.63424	D	0.86	0.61233	P	0.476986	0.04959	N	1.320150	1	0.08975	N	1.845	0.48678	L	2.34	0.16351	T	0.58	0.02598	N	0.283	0.32037	-0.9962	0.30974	T	0.039	0.16849	T	10	0.007923096	0.00180	T	.	.	.	0.106	0.30130	.	.	0.0666544352282	0.05500	0.4354335960305048	0.43460	0.00981375539868	0.00893	0.226425439119	0.01714	T	0.004371	0.03778	T	-0.564092	0.00240	T	-0.57366	0.15115	T	0.0215390067787671	0.00858	T	0.852415	0.53747	D	0.042662807	0.06510	0.039662663	0.04111	0.042662807	0.06510	0.039662663	0.04111	-4.855	0.54724	T	.	.	0.087	0.11172	B	.;.	.;.	1.156219	0.15446	11.86	0.87087435809174041	0.16979	0.10178	0.15756	N	AEFDBI	0.173650	0.30074	N	-1.34251776177443	0.03203	0.1426843	-1.49460012069573	0.02388	0.1097499	0.28034256981972	0.18982	0.580535	0.33130	0	0.514364	0.08380	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.48	-5.11	0.02682	0.187000	0.16806	0.622000	0.20140	-1.788000	0.00641	0.358000	0.25825	0.000000	0.08366	0.000000	0.00833	0.2554:0.1545:0.3142:0.276	0.613	0.00715	873	0.30802	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1150.98	36	chr16	88865083	.	G	A	1150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=868;ExcessHet=0.0000;FS=2.243;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.44;ReadPosRankSum=1.27;SOR=1.108	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr16	88885186	88885186	C	T	exonic	CBFA2T3	.	nonsynonymous SNV	CBFA2T3:NM_175931:exon6:c.G719A:p.R240H	.	.	426	1069	27	0	0	27	0.0124711	.	.	2817958	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.95	D	0.032	N	1.000	D	2.14	M	1.28	T	-0.545	T	0.216	T	0.592	4.907	28.3	4.37	2.422	5.291	16.188	0.161	.	0.0033	0.00279553	0.0035	0.0005	0.0020	0	0.0009	0.0050	0.0111	0.0028	0.0033441	517	154602	rs61757659	0.0040	0.0040	0.0039	0.0042	0.0153	0.0039	0.0039	0.0128	0.0118	0.0007	0.0031	0.0039	2.542e-05	0.0009	0.0153	0.0044	0.0038	0.0038	0.0036	0.0036	0.0036	0.0035	0.0056	0.0033	0.0032	0.0051	0.0050	0.0009	0	0.0047	0.0020	0.0002	0.0014	0.0136	0.0056	0.0062	0.0029	0.049	0.49117	D	0.538	0.28860	T	0.99	0.90584	D	0.855	0.68788	P	0.032305	0.25047	N	0.366932	0.999998	0.58761	D	2.72	0.79541	M	1.28	0.53302	T	-1.95	0.47852	N	0.651	0.66187	-0.5451	0.66971	T	0.216	0.57823	T	10	0.008305252	0.00188	T	.	.	.	0.161	0.41658	.	.	0.687375672215	0.68469	0.35749645402748087	0.35663	0.167897587978	0.18931	0.56410574913	0.47847	T	0.276639	0.64923	T	-0.310053	0.07744	T	-0.216366	0.53085	T	0.0260794350214629	0.01417	T	0.933007	0.74900	D	0.13668959	0.31678	0.09668897	0.22984	0.13668959	0.31678	0.09668897	0.22983	-9.007	0.67743	D	.	.	0.101	0.37746	B	.;.;.	.;.;.	4.357269	0.66971	25.0	0.9994995678213926	0.99938	0.98801	0.87029	D	AEFBI	0.889615	0.82387	D	0.612050783192237	0.73934	6.048133	0.565833870080573	0.72508	5.820615	0.999999999951449	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.37	4.37	0.51830	5.503000	0.66679	2.632000	0.33699	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.433000	0.27516	0.0:1.0:0.0:0.0	16.188	0.81781	830	0.39242	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	526.98	35	chr16	88885186	.	C	T	526.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.440e-01;DP=766;ExcessHet=0.0000;FS=2.267;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.93;ReadPosRankSum=0.093;SOR=0.408	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1066	20	0	1	0
chr16	88892449	88892449	T	C	exonic	CBFA2T3	.	nonsynonymous SNV	CBFA2T3:NM_175931:exon3:c.A158G:p.N53S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.081	B	0.17	B	0.008	N	1.000	N	0.895	L	1.42	T	-0.984	T	0.094	T	0.13	-0.273	2.691	-2.16	-0.987	3.001	11.211	0.085	0.0724786828793	.	.	3.356e-05	0	0	0.0001	0	3.065e-05	0	6.098e-05	2.59e-05	4	154602	rs753789675	2.601e-05	2.599e-05	2.996e-05	2.202e-05	0.0003	1.934e-05	1.693e-05	6.094e-05	3.165e-05	2.987e-05	0	0	0.0001	0	0.0003	2.338e-05	1.656e-05	3.478e-05	2.629e-05	2.627e-05	1.285e-05	4.036e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.413e-05	0	0	0	0	0	0	4.41e-05	0	0	0.054	0.38633	T	0.119	0.54541	T	0.081	0.24602	B	0.17	0.35299	B	0.007808	0.31183	N	0.379516	1	0.08975	N	1.245	0.31408	L	1.42	0.53088	T	-2.19	0.72820	N	0.279	0.31590	-0.9843	0.33998	T	0.094	0.35738	T	10	0.078451455	0.12504	T	0.072479	0.71543	D	0.085	0.24743	0.358	0.36060	0.36036328697	0.35645	0.2308127832546865	0.22996	0.0544781243693	0.06022	0.333983361721	0.15534	T	0.518588	0.83122	D	-0.412963	0.01900	T	-0.538821	0.18412	T	0.0426199110744776	0.04169	T	0.876612	0.59457	D	0.05609393	0.10991	0.063465044	0.12575	0.05609393	0.10990	0.063465044	0.12575	-6.335	0.48999	T	.	.	0.057	0.00670	B	.;.;.;.;.;.	.;.;.;.;.;.	0.458500	0.08281	5.028	0.34410047866379428	0.02103	0.78179	0.38533	D	AEFBI	0.314227	0.41915	N	-1.31226269208201	0.03533	0.1580213	-1.32230661833321	0.04143	0.1947952	0.82963020008315	0.24670	0.67177	0.52595	0	0.702456	0.74545	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.27	-2.16	0.06684	2.632000	0.46177	-1.074000	0.06411	-1.490000	0.01045	0.993000	0.37899	0.000000	0.08366	0.000000	0.00833	0.0:0.3484:0.0:0.6516	11.211	0.48028	830	0.39242	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	588.98	37	chr16	88892449	.	T	C	588.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.640e-01;DP=844;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.75;ReadPosRankSum=0.754;SOR=0.693	GT:AD:DP:GQ:PL	0/1:48,28:76:99:603,0,1197	20	0	1	0
chr16	88901524	88901524	G	T	exonic	CBFA2T3	.	nonsynonymous SNV	CBFA2T3:NM_005187:exon2:c.C284A:p.P95H	.	.	417	1104	0	1	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.838	P	0.065	N	1.000	D	1.24	L	1.37	T	-0.837	T	0.132	T	0.287	2.325	13.73	2.94	0.716	1.356	12.288	0.094	0.0527367119027	0.0010	0.000599042	0.0003	0.0030	0.0004	0	0	1.629e-05	0	0	0.0002393	37	154602	rs146149123	7.808e-05	9.112e-05	9.458e-05	6.125e-05	0.0030	6.552e-05	6.119e-05	0.0025	0.0023	0.0030	0.0006	0	0	0	0.0002	4.785e-06	0.0001	0	0.0009	0.0009	0.0010	0.0008	0.0030	0.0008	0.0007	0.0026	0.0024	0.0030	0	0.0004	0	0	0	0	2.94e-05	0.0019	0	0.019	0.78490	D	0.022	0.92824	D	0.702	0.56202	P	0.769	0.56777	P	0.065010	0.21912	N	0.504141	0.965481	0.81001	D	2.095	0.58118	M	1.37	0.50976	T	-1.83	0.91436	N	0.429	0.46835	-0.8371	0.52839	T	0.132	0.44386	T	10	0.01258257	0.00270	T	0.052737	0.65189	D	0.094	0.27141	.	.	0.462809833587	0.45907	0.13766759934210812	0.13690	0.336908965397	0.35691	0.428671360016	0.29027	T	0.214479	0.57608	T	-0.421995	0.01661	T	-0.380099	0.35710	T	0.0454773984271662	0.04688	T	0.943406	0.78893	D	0.1872115	0.40165	0.16831018	0.38782	0.1872115	0.40165	0.16831018	0.38781	-5.696	0.43658	T	.	.	0.098	0.32804	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.063323	0.41146	21.3	0.98641606398592019	0.44055	0.46925	0.27868	N	AEFBI	0.662100	0.63209	D	-0.0339299480349581	0.40322	2.392691	-0.133985898670927	0.34030	1.953009	0.999999901282066	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.576033	0.28219	0	0.633917	0.49826	0	.	.	3.95	2.94	0.33188	1.458000	0.34833	6.357000	0.55501	0.618000	0.50648	0.658000	0.28243	1.000000	0.68203	0.051000	0.15275	0.0:0.0:0.8286:0.1714	12.288	0.54122	830	0.39242	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1233.98	39	chr16	88901524	.	G	T	1233.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.332;DP=824;ExcessHet=0.0000;FS=1.928;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.03;ReadPosRankSum=-4.530e-01;SOR=0.970	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1400	20	0	1	0
chr16	89100970	89100970	A	T	exonic	ACSF3	.	nonsynonymous SNV	ACSF3:NM_001127214:exon2:c.A289T:p.R97W	Combined malonic and methylmalonic aciduria	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	4.45	H	0.42	T	0.220	D	0.503	D	0.928	2.700	14.99	0.098	-0.255	0.600	14.543	0.657	0.130465358978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.998921	0.81001	D	4.63	0.99327	H	0.42	0.56937	T	-7.4	0.95305	D	0.948	0.95608	0.220	0.86243	D	0.503	0.81237	D	10	0.98525786	0.98768	D	0.130465	0.81263	D	0.657	0.87135	0.914	0.98346	0.610312411291	0.60717	0.8462832790474565	0.84589	0.313277020472	0.33623	0.611466407776	0.54523	T	0.518727	0.83128	D	0.300476	0.83004	D	0.193836	0.82785	D	0.999305844306946	0.96892	D	0.976102	0.91674	D	0.9046036	0.91797	0.86036986	0.92204	0.9046036	0.91799	0.86036986	0.92205	-17.31	0.99149	D	0.8998037934541196	0.95167	0.475	0.64622	A	.;.;.;.	.;.;.;.	3.242700	0.44271	21.9	0.99787068404184798	0.87308	0.85626	0.44779	D	AEFDBI	0.680809	0.64438	D	0.174219472023021	0.49964	3.19112	-0.0718059219167416	0.36561	2.129285	0.95141162317416	0.27956	0.67177	0.52595	0	0.702456	0.74545	0	0.596874	0.31795	0	0.635551	0.53088	0	.	.	5.27	0.098	0.13806	0.404000	0.20722	1.215000	0.24935	-0.095000	0.16041	0.989000	0.36753	0.997000	0.33255	0.027000	0.12703	0.4588:0.5412:0.0:0.0	14.543	0.67594	900	0.24599	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2106.98	72	chr16	89100970	.	A	T	2106.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.080e+00;DP=1526;ExcessHet=0.0000;FS=0.583;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.25;ReadPosRankSum=0.701;SOR=0.766	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	20	0	1	0
chr16	89145306	89145306	G	A	exonic	ACSF3	.	nonsynonymous SNV	ACSF3:NM_001284316:exon7:c.G611A:p.R204Q	Combined malonic and methylmalonic aciduria	YES	0	1519	3	0	0	3	0.000986518	.	.	200311	Inborn_genetic_diseases|not_specified|ACSF3-related_disorder|not_provided|Combined_malonic_and_methylmalonic_acidemia	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0013661,MedGen:C3280314,OMIM:614265,Orphanet:289504	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.011	B	0.013	B	0.025	U	0.821	N	0.11	N	1.04	T	-1.081	T	0.038	T	0.337	2.723	15.07	3.65	2.152	1.333	7.001	0.114	0.014222500733	0.0059	0.00319489	0.0046	0.0013	0.0020	0.0008	0.0043	0.0064	0.0045	0.0034	0.0044631	690	154602	rs144681140	0.0065	0.0065	0.0066	0.0064	0.0076	0.0064	0.0063	0.0075	0.0074	0.0012	0.0018	0.0007	0.0010	0.0042	0.0016	0.0076	0.0044	0.0037	0.0047	0.0047	0.0049	0.0044	0.0078	0.0044	0.0043	0.0072	0.0070	0.0014	0	0.0033	0.0003	0.0006	0.0043	0	0.0078	0.0028	0.0039	0.025	0.58626	D	0.089	0.40426	T	0.011	0.15914	B	0.013	0.16460	B	0.025382	0.26097	U	0.314197	0.978255	0.28886	N	0.705	0.18577	N	1.04	0.40218	T	-0.43	0.16393	N	0.531	0.56231	-1.0813	0.07099	T	0.038	0.16505	T	10	0.016626418	0.00351	T	0.014223	0.34189	T	0.114	0.32008	.	.	0.26169431596	0.25797	0.4902084639917607	0.48940	0.058545899825	0.06494	0.35657709837	0.18886	T	0.042358	0.31851	T	-0.463989	0.00928	T	-0.432442	0.29658	T	0.0170694514439318	0.00454	T	0.969903	0.95294	D	0.09251051	0.21705	0.07462348	0.16346	0.10821818	0.25588	0.06709118	0.13832	-7.97	0.60865	D	0.12609643622955544	0.12667	0.098	0.27222	B	.;.;.;.;.	.;.;.;.;.	3.011505	0.40274	21.1	0.99855948919229431	0.93458	0.71659	0.35109	D	AEFDGBHCI	0.304634	0.41227	N	-0.345309128193244	0.27445	1.505818	-0.167296538495479	0.32748	1.866217	0.999705277723038	0.41986	0.743674	0.98306	0	0.702456	0.74545	0	0.635938	0.45252	0	0.584449	0.35598	0	.	.	4.68	3.65	0.40985	1.440000	0.34634	6.648000	0.56206	-0.211000	0.08354	1.000000	0.71638	1.000000	0.68203	0.023000	0.12082	0.0992:0.0:0.6206:0.2802	7.001	0.23986	884	0.28482	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase	ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|CBFA2T3	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Substantia_nigra|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Whole_Blood	ZNF778|CPNE7|ZNF778|ZNF778	Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	rs144681140	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2355.98	33	chr16	89145306	.	G	A	2355.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=914;ExcessHet=0.0000;FS=3.318;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.53;ReadPosRankSum=0.766;SOR=0.763	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1180	20	0	1	0
chr16	89145370	89145370	G	C	exonic	ACSF3	.	nonsynonymous SNV	ACSF3:NM_001284316:exon7:c.G675C:p.E225D	Combined malonic and methylmalonic aciduria	YES	0	1508	14	0	0	14	0.00462046	.	.	375624	not_specified|not_provided|Combined_malonic_and_methylmalonic_acidemia	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013661,MedGen:C3280314,OMIM:614265,Orphanet:289504	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	0.984	D	2.545	M	-0.61	T	0.288	D	0.599	D	0.917	3.446	17.67	4.69	2.155	2.763	9.515	0.750	0.123485323285	7.7e-05	0.000399361	0.0002	0	0	0	0	3.017e-05	0	0.0017	0.000207	32	154602	rs147538370	0.0002	0.0002	0.0001	0.0002	0.0033	0.0001	0.0001	0.0022	0.0018	2.987e-05	6.708e-05	0	0	0	0.0033	5.126e-05	0.0004	0.0014	9.845e-05	9.841e-05	6.422e-05	0.0001	0.0017	6e-05	4.874e-05	0.0008	0.0006	0	0	0	0	0	0	0	0.0001	0	0.0017	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000094	0.51296	D	0.127272	0.983711	0.40050	D	3.305	0.90531	M	-1.22	0.78752	T	-2.64	0.60982	D	0.955	0.96416	0.288	0.87365	D	0.599	0.85727	D	10	0.27069536	0.44603	T	0.123485	0.80466	D	0.750	0.91413	0.938	0.99130	0.482721949076	0.47902	0.9240531718369235	0.92382	0.288101061184	0.31214	0.649389743805	0.59899	T	0.396581	0.77859	T	0.0883325	0.63001	D	0.324028	0.89258	D	0.437109708786011	0.30323	T	0.969003	0.97142	D	0.78012085	0.82661	0.57322186	0.75281	0.78012085	0.82663	0.57322186	0.75282	-14.468	0.94478	D	0.5781481678380671	0.64505	0.955	0.90555	P	.;.;.;.;.	.;.;.;.;.	3.999771	0.58929	24.0	0.99852791191937929	0.93191	0.93234	0.57675	D	AEFDGBHCI	0.637426	0.61622	D	0.538204470214631	0.69366	5.346793	0.450613761952801	0.64757	4.738273	0.999986570142432	0.51787	0.743674	0.98306	0	0.702456	0.74545	0	0.635938	0.45252	0	0.584449	0.35598	0	.	.	4.69	4.69	0.58546	2.966000	0.48900	4.901000	0.45859	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.108000	0.18652	0.1417:0.0:0.8583:0.0	9.515	0.38263	884	0.28482	AMP-binding enzyme, C-terminal domain;AMP-binding enzyme, C-terminal domain;AMP-binding enzyme, C-terminal domain;AMP-binding enzyme, C-terminal domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1331.98	33	chr16	89145370	.	G	C	1331.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.140;DP=830;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.22;ReadPosRankSum=-1.883e+00;SOR=0.768	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1180	20	0	1	0
chr16	89196011	89196011	G	C	exonic	SLC22A31	.	nonsynonymous SNV	SLC22A31:NM_001384770:exon9:c.C923G:p.P308R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.358e-07	6.84e-07	0	1.497e-06	9.374e-07	0	0	.	.	0	0	0	0	0	0	9.374e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	670.98	33	chr16	89196011	.	G	C	670.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.500e-01;DP=785;ExcessHet=0.0000;FS=2.683;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.91;ReadPosRankSum=-1.860e-01;SOR=1.302	GT:AD:DP:GQ:PL	0/1:18,27:45:99:685,0,423	20	0	1	0
chr16	89198301	89198301	C	T	exonic	SLC22A31	.	nonsynonymous SNV	SLC22A31:NM_001366322:exon7:c.G689A:p.R230H	.	.	420	1078	23	1	0	25	0.0114626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0169047401482	.	0.00139776	0.0011	0	0	0	0	0.0006	0	0.0016	0.000304	47	154602	rs565200064	0.0007	0.0007	0.0007	0.0008	0.0116	0.0007	0.0007	0.0093	0.0085	0.0026	0.0008	0	0	5.939e-05	0.0116	0.0006	0.0013	0.0014	0.0011	0.0011	0.0012	0.0011	0.0025	0.0010	0.0010	0.0021	0.0020	0.0025	0	0.0007	0	0	0	0.0034	0.0006	0.0024	0.0019	.	.	.	0.304	0.20100	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.04426	.	.	.	.	.	.	.	0.004519403	0.00093	T	0.016905	0.38384	T	.	.	.	.	0.238705975628	0.23479	.	.	.	.	0.301489889622	0.10622	T	.	.	.	-0.405957	0.02115	T	-0.361453	0.37883	T	.	.	.	0.645335	0.25688	T	0.033002783	0.03432	0.10148256	0.24295	0.033002783	0.03432	0.10148256	0.24294	-5.323	0.40170	T	.	.	.	.	.	.;.	.;.	1.008123	0.13867	10.43	0.73818498138907052	0.10466	0.89073	0.49324	D	AEFDBHCI	0.099839	0.20089	N	.	.	.	.	.	.	0.999963732035449	0.48965	0.252514	0.04256	0	0.060609	0.00678	0	0.295636	0.05589	0	0.092715	0.02821	0	.	.	3.58	-1.83	0.07410	0.349000	0.19801	-4.028000	0.02385	0.454000	0.21428	0.000000	0.06391	0.000000	0.08366	0.199000	0.21867	0.0:0.5946:0.0:0.4054	9.792	0.39878	819	0.41190	Major facilitator superfamily domain;Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1121.98	35	chr16	89198301	.	C	T	1121.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.003e+00;DP=809;ExcessHet=0.0000;FS=1.676;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=-1.319e+00;SOR=0.762	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1146	20	0	1	0
chr16	89222140	89222140	A	G	exonic	ZNF778	.	nonsynonymous SNV	ZNF778:NM_001201407:exon3:c.A74G:p.Q25R	.	.	429	1071	22	0	0	22	0.0101664	.	.	726936	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.32	T	0.228	B	0.017	B	.	.	1.000	N	0	N	3.36	T	-0.926	T	0.008	T	0.127	1.091	9.452	1.18	0.800	0.025	4.560	0.014	0.000886800849996	0.0012	0.00199681	0.0016	0.0027	0.0020	0	0.0002	0.0018	0.0011	0.0012	0.0015006	232	154602	rs201528958	0.0011	0.0011	0.0010	0.0012	0.0115	0.0010	0.0010	0.0093	0.0085	0.0030	0.0026	0.0095	0	3.752e-05	0.0115	0.0007	0.0027	0.0012	0.0020	0.0020	0.0021	0.0020	0.0037	0.0019	0.0018	0.0030	0.0027	0.0031	0	0.0037	0.0084	0	0	0.0238	0.0011	0.0043	0.0021	0.052	0.55530	T	0.024	0.56640	D	0.228	0.30509	B	0.017	0.18140	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	3.36	0.05918	T	-0.7	0.34397	N	0.268	0.31925	-0.9262	0.44688	T	0.008	0.02801	T	9	0.0056599677	0.00126	T	8.87E-4	0.00822	T	0.014	0.01968	.	.	0.346544149963	0.34258	0.03974746071075669	0.03920	0.00476531076772	0.00421	0.342798918486	0.16856	T	0.001643	0.01075	T	-0.636646	0.00087	T	-0.691889	0.06281	T	0.00130728525888588	0.00013	T	0.0537946	0.00385	T	0.034975912	0.04029	0.05723114	0.10366	0.034975912	0.04028	0.05723114	0.10366	-2.761	0.07830	T	.	.	0.124	0.26138	B	.;.;.	.;.;.	-0.112006	0.03571	0.691	0.96231090618368786	0.29119	0.01444	0.04845	N	AEFBI	0.024976	0.01634	N	-1.06373882354058	0.07320	0.3396984	-1.12910751385911	0.07148	0.3466407	0.00405546609443816	0.10397	0.562547	0.31514	0	0.636889	0.57051	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.18	1.18	0.20058	0.650000	0.24544	1.829000	0.29100	-0.059000	0.16651	0.001000	0.13787	0.001000	0.17328	0.095000	0.18041	1.0:0.0:0.0:0.0	4.560	0.11553	819	0.41190	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	832.98	36	chr16	89222140	.	A	G	832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.130e-01;DP=786;ExcessHet=0.0000;FS=6.178;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=0.846;SOR=1.188	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1065	20	0	1	0
chr16	89223213	89223213	A	C	exonic	ZNF778	.	nonsynonymous SNV	ZNF778:NM_001201407:exon4:c.A174C:p.L58F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.996	D	0.849	P	.	.	1.000	N	1.605	L	4.41	T	-0.986	T	0.011	T	0.292	2.359	13.85	0.502	0.114	-0.043	2.365	0.049	0.000910065823908	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1160998634	8.209e-06	8.209e-06	5.445e-06	1.1e-05	4.497e-06	4.38e-06	3.46e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0.0001	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.174	0.23271	T	0.064	0.52060	T	0.996	0.68779	D	0.849	0.60615	P	.	.	.	.	1	0.19694	N	.	.	.	4.41	0.02196	T	-2.6	0.69357	D	0.109	0.09490	-0.9860	0.33590	T	0.011	0.04274	T	9	0.18107283	0.33321	T	9.1E-4	0.00866	T	0.049	0.13647	0.507	0.60232	0.470072546239	0.46634	0.02576230043257849	0.02527	0.0190931184289	0.01861	0.231064796448	0.02048	T	0.02089	0.16365	T	-0.232802	0.16279	T	-0.572181	0.15251	T	0.847327351570129	0.49937	D	0.119088	0.00917	T	0.12687463	0.29705	0.14142488	0.33679	0.12687463	0.29705	0.14142488	0.33678	-7.04	0.54325	T	.	.	0.199	0.42170	B	.;.;.	.;.;.	1.356920	0.17655	13.29	0.99641406888843054	0.76695	0.01024	0.03847	N	AEFBI	0.027721	0.02315	N	-0.390834634626758	0.25795	1.40292	-0.598888968988773	0.19521	1.04777	0.00229404298618226	0.09302	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.65	0.502	0.16138	-0.347000	0.07799	-0.773000	0.07487	0.751000	0.87719	0.010000	0.18352	0.000000	0.08366	0.786000	0.37147	0.497:0.3032:0.1997:0.0	2.365	0.04053	819	0.41190	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2178.98	37	chr16	89223213	.	A	C	2178.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.883;DP=883;ExcessHet=0.0000;FS=4.281;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=0.148;SOR=0.443	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1446	20	0	1	0
chr16	89227184	89227184	G	A	exonic	ZNF778	.	nonsynonymous SNV	ZNF778:NM_182531:exon6:c.G812A:p.R271H	.	.	432	1076	14	0	0	14	0.00646353	.	.	2817990	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-2.325	N	2.63	T	-0.937	T	0.005	T	0.067	-1.546	0.015	-0.143	-0.041	3.577	4.470	0.097	0.000700706001017	0.0023	0.00139776	0.0024	0.0008	0.0020	0.0002	0	0.0036	0.0022	0.0008	0.0024321	376	154602	rs183870297	0.0035	0.0035	0.0036	0.0035	0.0111	0.0035	0.0034	0.0089	0.0081	0.0010	0.0024	0.0029	0.0002	7.492e-05	0.0111	0.0040	0.0043	0.0015	0.0026	0.0026	0.0027	0.0026	0.0042	0.0024	0.0023	0.0034	0.0033	0.0010	0	0.0042	0.0040	0.0008	0	0.0068	0.0038	0.0024	0.0019	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.935	0.00016	N	2.63	0.12884	T	5.76	0.00011	N	0.058	0.02964	-0.9371	0.43072	T	0.005	0.01833	T	9	0.005420834	0.00119	T	7.01E-4	0.00435	T	0.097	0.27909	.	.	0.136095386433	0.13204	0.015147297876536781	0.01470	0.00435782311993	0.00387	0.393539071083	0.24167	T	0.004793	0.04206	T	-0.685007	0.00045	T	-0.754823	0.03301	T	0.00479767548091291	0.00051	T	0.245875	0.03603	T	0.012219345	0.00029	0.023916466	0.00405	0.012219345	0.00029	0.023916466	0.00405	-0.142	0.00517	T	.	.	0.074	0.17275	B	.;.;.	.;.;.	-0.372896	0.02317	0.246	0.72451221620821593	0.09978	0.00109	0.00694	N	AEFBCI	0.011613	0.00106	N	-1.5327999540654	0.01638	0.07161176	-1.43926126578857	0.02868	0.132767	0.272703661646599	0.18908	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.13	-0.143	0.12787	2.924000	0.48572	0.484000	0.18835	-0.076000	0.16278	0.148000	0.23625	0.000000	0.08366	0.001000	0.02609	0.7788:0.0:0.2212:0.0	4.470	0.11129	819	0.41190	Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2436.98	143	chr16	89227184	.	G	A	2436.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.880e-01;DP=3033;ExcessHet=0.0000;FS=3.398;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.61;ReadPosRankSum=2.13;SOR=0.940	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:148,0:148:99:.:.:0,120,1800	20	0	1	0
chr16	89227697	89227697	C	T	exonic	ZNF778	.	nonsynonymous SNV	ZNF778:NM_182531:exon6:c.C1325T:p.T442I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.335	B	0.085	B	.	.	0.999	N	-0.38	N	2.66	T	-0.978	T	0.010	T	0.254	-0.124	3.392	0.091	0.045	-0.791	3.733	0.012	0.000979437885762	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1271311452	1.026e-05	1.026e-05	8.167e-06	1.238e-05	7.194e-06	6.16e-06	4.89e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	0.0001	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.387	0.10945	T	1.0	0.01155	T	0.129	0.33330	B	0.079	0.29395	B	.	.	.	.	0.999134	0.21587	N	0.325	0.10370	N	2.66	0.12575	T	-0.1	0.08495	N	0.073	0.04668	-0.9780	0.35458	T	0.010	0.03856	T	9	0.04801321	0.04194	T	9.79E-4	0.01026	T	0.012	0.01476	0.425	0.47021	0.206339911435	0.20273	0.006781917739386643	0.00645	0.0211170378769	0.02089	0.378298938274	0.22014	T	0.001409	0.00874	T	-0.265819	0.12227	T	-0.619607	0.11216	T	0.093671787738584	0.11647	T	0.368163	0.10783	T	0.024969794	0.01384	0.03207186	0.01886	0.024969794	0.01384	0.03207186	0.01886	-3.975	0.27040	T	.	.	0.343	0.56078	A	.;.;.	.;.;.	0.121630	0.05188	1.704	0.76453344966059789	0.11474	0.00186	0.01083	N	AEFBHCI	0.028090	0.02410	N	-1.21715616607609	0.04751	0.2150762	-1.24231820359867	0.05246	0.2494891	0.0599830717582301	0.15181	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.13	0.091	0.13774	-0.397000	0.07329	-20.000000	0.00162	0.578000	0.29377	0.000000	0.06391	0.000000	0.08366	0.132000	0.19645	0.0:0.4951:0.0:0.5049	3.733	0.08028	819	0.41190	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1881.98	62	chr16	89227697	.	C	T	1881.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.740e-01;DP=1910;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.55;ReadPosRankSum=-1.479e+00;SOR=0.657	GT:AD:DP:GQ:PL	0/0:81,0:81:99:0,120,1800	20	0	1	0
chr16	89279761	89279761	C	T	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.G6781A:p.E2261K	KBG syndrome, Autosomal dominant	.	3	1518	1	0	0	1	0.000329272	.	.	580170	KBG_syndrome|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.62	T	0.051	B	0.016	B	0.056	N	1.000	N	1.1	L	1.17	T	-1.044	T	0.072	T	0.102	0.421	6.288	1.95	0.159	0.994	6.922	0.035	.	.	.	0.0086	0.0044	0	0	0	0	0	0.0138	0.0004657	72	154602	rs770262960	0.0003	0.0003	0.0002	0.0005	0.0051	0.0003	0.0003	0.0046	0.0045	0	5.701e-05	0	0	0	0.0006	5.229e-05	0.0002	0.0051	0.0002	0.0002	0.0001	0.0003	0.0046	0.0001	0.0001	0.0031	0.0026	0	0	0	0	0	0	0	8.823e-05	0	0.0046	0.047	0.40319	D	0.671	0.06284	T	0.051	0.22415	B	0.016	0.17743	B	0.055789	0.02077	N	2.140360	1	0.08975	N	1.955	0.52871	M	1.17	0.37910	T	-0.74	0.20791	N	0.123	0.11483	-1.0445	0.15971	T	0.072	0.29163	T	10	0.0038250685	0.00072	T	.	.	.	0.035	0.08770	0.135	0.03920	0.246926113748	0.24311	0.03812351147167107	0.03758	0.109849759272	0.12387	0.472097814083	0.34969	T	0.163395	0.50843	T	-0.580946	0.00190	T	-0.604653	0.12422	T	0.0235768103740576	0.01092	T	0.517048	0.16713	T	0.042798717	0.06557	0.04701684	0.06680	0.049774308	0.08888	0.046002828	0.06316	-5.745	0.44092	T	0.19010334670899973	0.24891	0.076	0.06069	B	.;.;.	.;.;.	0.599302	0.09679	6.448	0.80091745696186967	0.13040	0.16434	0.19387	N	AEFDBCI	0.059653	0.11282	N	-0.989375414887727	0.08830	0.4155391	-1.00502612150175	0.09674	0.4826884	0.970850599172869	0.29240	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.96	1.95	0.25130	0.719000	0.25552	0.962000	0.22998	0.573000	0.29008	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.626:0.1927:0.1813	6.922	0.23576	819	0.41190	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	709.98	33	chr16	89279761	.	C	T	709.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.890e-01;DP=789;ExcessHet=0.0000;FS=2.056;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.92;ReadPosRankSum=1.16;SOR=0.570	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,101,1227	20	0	1	0
chr16	89280430	89280430	T	C	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.A6112G:p.K2038E	KBG syndrome, Autosomal dominant	.	0	1519	3	0	0	3	0.000986518	.	.	439074	ANKRD11-related_disorder|KBG_syndrome|Inborn_genetic_diseases|not_provided	.|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.09	T	0.488	P	0.037	B	0.001	N	1.000	D	0.975	L	0.98	T	-1.052	T	0.077	T	0.442	2.661	14.86	5.29	2.002	5.577	14.915	0.163	0.02266763446	0.0005	0.000798722	0.0007	0.0004	0.0001	0	0	0.0006	0	0.0023	0.0003946	61	154602	rs200724087	0.0009	0.0009	0.0008	0.0009	0.0022	0.0008	0.0008	0.0019	0.0018	6.153e-05	0.0001	0.0028	0	0	0.0006	0.0008	0.0008	0.0022	0.0005	0.0005	0.0006	0.0005	0.0023	0.0004	0.0004	0.0013	0.0010	0.0003	0	0.0003	0.0017	0	0	0	0.0007	0.0009	0.0023	0.008	0.58626	D	0.256	0.23298	T	0.488	0.36905	P	0.037	0.23121	B	0.001030	0.40562	N	0.170984	0.946972	0.37549	D	2.445	0.70938	M	0.98	0.42122	T	-0.88	0.23808	N	0.448	0.55366	-1.0522	0.13790	T	0.077	0.30676	T	10	0.006870091	0.00156	T	0.022668	0.45580	T	0.163	0.42028	.	.	0.494135641928	0.49047	0.32866577432199484	0.32779	0.167050499387	0.18843	0.395347297192	0.24420	T	0.164472	0.50994	T	-0.382827	0.02990	T	-0.341696	0.40152	T	0.0141456625344	0.00277	T	0.443756	0.12347	T	0.18581071	0.39961	0.14502487	0.34411	0.21070506	0.43375	0.17015427	0.39102	-2.296	0.04533	T	0.5851595647277625	0.65195	0.147	0.33913	B	.;.;.	.;.;.	2.488127	0.32099	18.94	0.9798286198108741	0.37341	0.90744	0.52179	D	AEFDBCI	0.512582	0.54073	D	-0.20812658081158	0.32801	1.853847	-0.166277628281805	0.32785	1.868775	0.999982459097477	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.29	5.29	0.74430	5.758000	0.68429	4.177000	0.42312	0.659000	0.54702	1.000000	0.71638	0.999000	0.35428	0.001000	0.02609	0.0:0.0:0.0:1.0	14.915	0.70437	819	0.41190	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	936.98	60	chr16	89280430	.	T	C	936.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.837;DP=902;ExcessHet=0.0000;FS=1.641;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.19;ReadPosRankSum=-1.222e+00;SOR=0.527	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,101,1227	20	0	1	0
chr16	89281033	89281033	G	A	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.C5509T:p.P1837S	KBG syndrome, Autosomal dominant	.	0	1478	43	1	0	45	0.014995	.	.	580086	ANKRD11-related_disorder|KBG_syndrome|not_specified|Inborn_genetic_diseases|not_provided	.|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.9	T	0.002	B	0.003	B	0.065	N	1.000	N	0.46	N	1.3	T	-1.005	T	0.025	T	0.031	-0.660	1.106	-1.28	0.019	0.813	5.962	0.019	.	0.0042	0.00199681	0.0040	0.0008	0.0038	0	0.0038	0.0055	0.0059	0.0022	0.0038551	596	154602	rs145906515	0.0032	0.0033	0.0031	0.0033	0.0325	0.0032	0.0031	0.0287	0.0272	0.0012	0.0050	0.0141	0	0.0048	0.0325	0.0028	0.0051	0.0022	0.0040	0.0040	0.0041	0.0039	0.0093	0.0037	0.0036	0.0081	0.0076	0.0007	0	0.0093	0.0156	0	0.0024	0.0850	0.0045	0.0109	0.0010	0.38	0.11191	T	0.811	0.03933	T	0.002	0.09854	B	0.003	0.08700	B	0.064985	0.21913	N	0.385555	1	0.08975	N	1.445	0.36358	L	1.3	0.35590	T	-0.1	0.08495	N	0.056	0.05542	-1.0053	0.28368	T	0.025	0.10688	T	10	0.0031891763	0.00054	T	.	.	.	0.019	0.03383	.	.	0.213499824651	0.20940	0.03753617685181097	0.03699	0.0990860901721	0.11200	0.280230402946	0.07524	T	0.062284	0.31875	T	-0.651348	0.00071	T	-0.704387	0.05589	T	0.00249692265642688	0.00026	T	0.715028	0.32735	T	0.02164385	0.00778	0.030817764	0.01587	0.023787895	0.01150	0.04176469	0.04822	-3.505	0.16501	T	.	.	0.081	0.08465	B	.;.;.	.;.;.	1.313788	0.17173	13.00	0.89837487977274233	0.19145	0.11940	0.16959	N	AEFBCI	0.048531	0.08291	N	-1.211134778551	0.04837	0.2191572	-1.22349443315435	0.05534	0.2639546	0.994268546997177	0.33559	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.59	-1.28	0.08834	0.906000	0.28140	2.752000	0.34542	0.670000	0.69193	0.116000	0.23103	0.987000	0.30940	0.005000	0.06747	0.2829:0.4378:0.2793:0.0	5.962	0.18540	819	0.41190	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3048.98	60	chr16	89281033	.	G	A	3048.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.07;DP=1136;ExcessHet=0.0000;FS=4.177;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=-4.170e-01;SOR=0.479	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,101,1227	20	0	1	0
chr16	89284161	89284161	A	G	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.T2381C:p.I794T	KBG syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.001	B	0.473	N	1.000	N	-0.69	N	1.34	T	-1.005	T	0.024	T	0.026	-1.923	0.008	-1.61	-0.189	0.562	1.593	0.018	0.00727015055541	.	.	8.591e-06	0	8.868e-05	0	0	0	0	0	6.5e-06	1	154602	rs759272573	1.377e-06	3.42e-06	1.369e-06	1.386e-06	4.661e-05	2.3e-07	9e-08	7.73e-06	2.89e-06	0	4.661e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.52	0.10465	T	0.0	0.02946	B	0.0	0.01387	B	0.473085	0.12254	N	0.748708	1	0.08975	N	-1.085	0.01025	N	1.34	0.34841	T	1.27	0.00985	N	0.046	0.02088	-1.0048	0.28517	T	0.024	0.10194	T	10	0.016104728	0.00339	T	0.00727	0.19280	T	0.018	0.03083	0.218	0.13932	0.102598925029	0.09809	3.480766670945786E-4	0.00031	0.108005847181	0.12179	0.323267638683	0.13916	T	0.061263	0.31607	T	-0.50949	0.00505	T	-0.78994	0.02166	T	0.0337778290875112	0.02601	T	0.126787	0.01303	T	0.020807045	0.00653	0.037021473	0.03266	0.020807045	0.00653	0.037021473	0.03266	-3.569	0.17410	T	0.0408067304843778	0.00374	0.07	0.06024	B	.;.;.;.	.;.;.;.	-0.089938	0.03702	0.755	0.29245769297825269	0.01541	0.12818	0.17497	N	AEDBI	0.048489	0.08280	N	-1.30269010940199	0.03644	0.1631694	-1.23211650683061	0.05401	0.257258	0.785011936865866	0.23914	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.43	-1.61	0.07951	0.642000	0.24426	0.839000	0.22025	-0.752000	0.03574	0.196000	0.24261	0.001000	0.17328	0.524000	0.29567	0.2653:0.2317:0.3836:0.1193	1.593	0.02498	819	0.41190	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.3529	1077.74	147	chr16	89284161	.	A	G	1077.74	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-2.922e+00;DP=2410;ExcessHet=9.6308;FS=135.155;InbreedingCoeff=-0.4981;MLEAC=14;MLEAF=0.412;MQ=60.00;MQRankSum=0.00;QD=0.73;ReadPosRankSum=0.835;SOR=11.622	GT:AD:DP:GQ:PL	0/1:75,29:104:99:172,0,1758	5	0	12	4
chr16	89284803	89284803	G	T	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.C1739A:p.S580Y	KBG syndrome, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	1985251	KBG_syndrome|ANKRD11-related_disorder|Inborn_genetic_diseases	MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.993	D	0.93	D	0.000	D	1.000	D	1.78	L	1.06	T	-0.701	T	0.240	T	0.328	4.250	22.1	5.71	2.698	9.539	19.858	0.162	0.0134972880804	.	0.000798722	0.0003	0	0.0002	0	0	0	0.0011	0.0018	0.0002329	36	154602	rs558841201	0.0001	0.0001	6.4e-05	0.0002	0.0015	9.605e-05	9.085e-05	0.0013	0.0012	0	6.708e-05	0	2.519e-05	0	0	1.619e-05	9.937e-05	0.0015	9.851e-05	9.843e-05	5.141e-05	0.0001	0.0027	6.003e-05	4.877e-05	0.0016	0.0013	0	0	0	0	0	0	0	2.94e-05	0	0.0027	0.027	0.46513	D	0.04	0.50809	D	0.99	0.63424	D	0.93	0.66466	D	0.000072	0.52346	D	0.133336	0.99999	0.58761	D	2.36	0.67893	M	1.06	0.39781	T	-1.92	0.44657	N	0.292	0.36884	-0.7008	0.60400	T	0.240	0.60786	T	10	0.018541723	0.00404	T	0.013497	0.32951	T	0.162	0.41843	.	.	0.432376951215	0.42856	0.03655477030974885	0.03602	0.507641427205	0.48948	0.436457514763	0.30093	T	0.346234	0.71452	T	-0.371916	0.03498	T	-0.326022	0.41911	T	0.118299045115531	0.14263	T	0.90161	0.72135	D	0.08996656	0.21038	0.14408644	0.34221	0.08996656	0.21037	0.14408644	0.34220	-6.241	0.48253	T	0.6416260921973818	0.71243	0.284	0.51677	B	.;.;.;.	.;.;.;.	4.578855	0.72309	25.8	0.99438133506160253	0.64621	0.99663	0.98459	D	AEFBI	0.900914	0.84701	D	0.811258682681992	0.86807	9.00482	0.820142241450326	0.91157	10.74679	0.999999999999938	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.71	5.71	0.89031	9.809000	0.98265	10.016000	0.83115	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.858	0.96765	819	0.41190	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	6887.98	39	chr16	89284803	.	G	T	6887.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.247e+00;DP=1176;ExcessHet=0.0000;FS=2.887;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-8.820e-01;SOR=0.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1530	20	0	1	0
chr16	89284807	89284807	A	C	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.T1735G:p.Y579D	KBG syndrome, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	1985255	KBG_syndrome|ANKRD11-related_disorder|Inborn_genetic_diseases	MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.861	P	0.332	B	0.017	N	1.000	D	1.905	M	0.57	T	-0.821	T	0.164	T	0.228	1.982	12.59	4.62	0.996	6.029	12.879	0.216	0.0390153422399	7.7e-05	0.000798722	0.0003	0	0.0002	0	0	1.509e-05	0.0011	0.0018	0.0002393	37	154602	rs143817649	9.716e-05	9.713e-05	5.31e-05	0.0001	0.0015	8.378e-05	7.917e-05	0.0013	0.0012	0	6.708e-05	0	2.519e-05	0	0	0	9.937e-05	0.0015	9.194e-05	9.186e-05	6.425e-05	0.0001	0.0027	5.525e-05	4.363e-05	0.0016	0.0013	0	0	0	0	0	0	0	1.47e-05	0	0.0027	0.021	0.49117	D	0.041	0.50514	D	0.861	0.47410	P	0.255	0.39216	B	0.016717	0.27907	N	0.404697	0.992415	0.23886	N	1.83	0.48079	L	0.57	0.54347	T	-4.53	0.78388	D	0.211	0.27197	-0.8209	0.53877	T	0.164	0.50176	T	10	0.012940437	0.00276	T	0.039015	0.58564	D	0.216	0.50959	.	.	0.507183065869	0.50357	0.009267961277944286	0.00889	0.15656143693	0.17672	0.343484222889	0.16958	T	0.632227	0.88616	D	-0.416858	0.01792	T	-0.390579	0.34483	T	0.154561912960215	0.17460	T	0.787321	0.50455	T	0.361094	0.57919	0.33581716	0.59391	0.361094	0.57920	0.33581716	0.59391	-3.453	0.15780	T	0.305932088963912	0.40358	0.143	0.44253	B	.;.;.;.	.;.;.;.	2.876895	0.38057	20.6	0.97728423976764089	0.35604	0.96820	0.71115	D	AEFBI	0.643077	0.61982	D	0.158602105487135	0.49220	3.124837	0.141614290531222	0.46701	2.911731	0.999627683760598	0.41093	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.71	4.62	0.56946	6.141000	0.71499	3.809000	0.39901	0.740000	0.86194	1.000000	0.71638	0.868000	0.27561	0.987000	0.62547	0.8575:0.1425:0.0:0.0	12.879	0.57398	819	0.41190	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	6900.98	39	chr16	89284807	.	A	C	6900.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.094e+00;DP=1177;ExcessHet=0.0000;FS=2.891;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.54;ReadPosRankSum=-8.160e-01;SOR=0.648	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1530	20	0	1	0
chr16	89556070	89556070	G	T	exonic	SPG7	.	nonsynonymous SNV	SPG7:NM_001363850:exon17:c.G2374T:p.G792W,	Spastic paraplegia 7, autosomal recessive, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09213868	0.16198	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268673	0.04486	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.56586	B	.;.;.	.;.;.	-0.595125	0.01585	0.106	0.44471141885104803	0.03421	0.00757	0.03139	N	AEFBI	.	.	.	.	.	.	.	.	.	0.997794644441177	0.36039	0.115753	0.02995	0	0.12628	0.03447	0	0.12342	0.03364	0	0.117559	0.03655	0	0.0509052	0.10014	0.953	-1.91	0.07225	-0.705000	0.05154	-1.107000	0.06310	-1.595000	0.00900	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3544:0.0:0.6456:0.0	6.496	0.21339	771	0.49057	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09091	37.89	2	chr16	89556070	.	G	T	37.89	.	AC=2;AF=0.091;AN=22;DP=59;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2813;MLEAC=2;MLEAF=0.091;MQ=60.00;QD=18.94;SOR=0.693	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,49	10	1	0	10
chr16	89637362	89637362	C	G	exonic	DPEP1	.	nonsynonymous SNV	DPEP1:NM_001128141:exon7:c.C750G:p.D250E	.	.	9	1510	3	0	0	3	0.000992392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.995	D	0.985	D	0.000	D	0.996	D	3.92	H	-1.04	T	0.326	D	0.671	D	0.882	2.244	13.46	-4.33	-0.981	-2.029	12.073	0.570	0.191113193284	.	.	0.0006	0	0	0	0	0	0	0.0044	0.0004722	73	154602	rs200553738	0.0002	0.0002	0.0001	0.0003	0.0038	0.0002	0.0002	0.0035	0.0033	0	0	0	0	0	0.0002	8.994e-07	0.0001	0.0038	0.0001	0.0001	3.853e-05	0.0002	0.0037	7.569e-05	6.275e-05	0.0024	0.0020	0	0	0	0	0	0	0	0	0	0.0037	0.001	0.78490	D	0.002	0.79402	D	0.995	0.67487	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.995864	0.42895	D	3.67	0.94359	H	-1.04	0.76561	T	-3.92	0.73151	D	0.817	0.81360	0.326	0.87964	D	0.671	0.88583	D	10	0.49962136	0.61471	T	0.191113	0.86164	D	0.570	0.82516	0.935	0.99047	0.381409048467	0.37754	0.8713192400383022	0.87097	0.0717173949615	0.08036	0.438019275665	0.30306	T	0.39524	0.75418	T	-0.0459009	0.45068	T	0.16077	0.80854	D	0.450999110687265	0.30834	T	0.914909	0.69682	D	0.80732894	0.84378	0.622572	0.78008	0.80732894	0.84380	0.622572	0.78009	-8.3	0.63095	D	.	.	0.692	0.72610	P	.;.;.	.;.;.	0.667742	0.10363	7.089	0.9885896348022748	0.47442	0.42011	0.26784	N	AEFDGBCI	0.525881	0.54847	D	-0.420536974327895	0.24749	1.338623	-0.784955305798863	0.14863	0.7788668	0.999965949629394	0.48965	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.92	-4.33	0.03423	-1.663000	0.02070	-9.830000	0.00771	-0.940000	0.02096	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.3856:0.0:0.6144	12.073	0.52925	814	0.42100	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1689.98	37	chr16	89637362	.	C	G	1689.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.720e-01;DP=862;ExcessHet=0.0000;FS=2.178;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.52;ReadPosRankSum=2.05;SOR=0.509	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1294	20	0	1	0
chr16	89708944	89708944	C	A	exonic	VPS9D1	.	nonsynonymous SNV	VPS9D1:NM_004913:exon13:c.G1610T:p.R537L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	2.47	M	1.4	T	-0.566	T	0.242	T	0.882	3.869	19.66	4.94	2.445	2.836	15.232	0.450	0.200812889364	0.0002	.	0.0003	0	0.0002	0.0002	0	0.0003	0	0.0006	0.0001358	21	154602	rs374177055	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	3.011e-05	6.91e-05	0	0	0	0	0.0003	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0008	7.572e-05	6.278e-05	0.0003	0.0002	2.406e-05	0	6.534e-05	0	0	0	0	0.0002	0	0.0008	0.004	0.68238	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999948	0.51968	D	2.55	0.74443	M	1.4	0.33630	T	-4.64	0.79316	D	0.948	0.95608	-0.5660	0.66173	T	0.242	0.61048	T	10	0.8220252	0.81401	D	0.200813	0.86730	D	0.450	0.75074	.	.	0.699922791804	0.69732	0.6281645251927718	0.62749	0.725458366015	0.62450	0.728460133076	0.71282	T	0.325108	0.69585	T	-0.0183756	0.49085	T	0.0446958	0.73236	D	0.774356305599213	0.44703	D	0.918608	0.70760	D	0.6895849	0.77489	0.5804687	0.75683	0.6895849	0.77490	0.5804687	0.75684	-15.272	0.96458	D	.	.	0.824	0.78437	P	.;.	.;.	4.030502	0.59597	24.1	0.9981483713826661	0.89797	0.92273	0.55333	D	AEFDBI	0.554643	0.56540	D	0.505055934418261	0.67389	5.075032	0.396782709578155	0.61366	4.335715	0.999999999174752	0.74766	0.706298	0.61202	0	0.694456	0.67091	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.94	4.94	0.64645	2.298000	0.43262	5.800000	0.49930	0.580000	0.29708	0.060000	0.21767	0.995000	0.32472	0.512000	0.29290	0.0:1.0:0.0:0.0	15.232	0.73087	693	0.58582	VPS9 domain|VPS9 domain|VPS9 domain;VPS9 domain|VPS9 domain|VPS9 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	569.98	37	chr16	89708944	.	C	A	569.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.38;DP=765;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.77;ReadPosRankSum=-2.560e-01;SOR=0.638	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1329	20	0	1	0
chr16	89716568	89716568	C	T	exonic	VPS9D1	.	nonsynonymous SNV	VPS9D1:NM_004913:exon4:c.G325A:p.G109S,	.	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.002	B	0.002	N	0.997	N	-1.645	N	.	.	-0.962	T	0.011	T	0.095	-0.110	3.462	3.04	0.334	0.855	6.374	0.062	0.00389881125786	0.0041	0.00319489	0.0042	0.0005	0.0016	0.0019	0.0047	0.0056	0.0022	0.0040	0.0043531	673	154602	rs191271054	0.0059	0.0059	0.0059	0.0059	0.0066	0.0058	0.0058	0.0065	0.0064	0.0007	0.0017	0.0058	0.0040	0.0041	0.0017	0.0066	0.0051	0.0040	0.0044	0.0045	0.0045	0.0044	0.0070	0.0042	0.0041	0.0065	0.0063	0.0009	0	0.0035	0.0069	0.0021	0.0041	0	0.0070	0.0043	0.0048	1.0	0.00964	T	1.0	0.01155	T	0.004	0.12183	B	0.002	0.06944	B	0.002004	0.37457	N	0.309728	0.997488	0.22640	N	-1.355	0.00654	N	.	.	.	1.31	0.00936	N	0.027	0.01004	-0.9624	0.38723	T	0.011	0.04134	T	9	0.004910052	0.00105	T	0.003899	0.09180	T	0.062	0.17934	.	.	0.139678290688	0.13603	0.08493763360141222	0.08427	0.174930252921	0.19695	0.311593472958	0.12147	T	0.007073	0.06489	T	-0.594679	0.00157	T	-0.619173	0.11250	T	0.000831246120220027	0.00008	T	0.529047	0.17505	T	0.026784262	0.01780	0.03949147	0.04053	0.026784262	0.01780	0.03949147	0.04052	-1.421	0.01610	T	.	.	0.070	0.03661	B	.;.	.;.	1.023881	0.14038	10.60	0.73606370221872341	0.10389	0.13040	0.17628	N	AEFBCI	0.044041	0.07038	N	-1.23051697427202	0.04563	0.206192	-1.02273204149248	0.09286	0.4611316	0.901692761377174	0.26108	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.28	3.04	0.34171	0.360000	0.19987	1.141000	0.24405	-0.344000	0.05652	0.997000	0.40164	1.000000	0.68203	0.029000	0.12982	0.0:0.2034:0.0:0.7966	6.374	0.20701	689	0.59000	.;.	.	.	.	.	rs191271054	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2247.98	34	chr16	89716568	.	C	T	2247.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.01;DP=895;ExcessHet=0.0000;FS=1.283;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.32;ReadPosRankSum=-1.473e+00;SOR=0.850	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1425	20	0	1	0
chr16	89739527	89739527	G	T	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon40:c.C3961A:p.R1321S	Fanconi anemia, complementation group A, Autosomal recessive	.	4	1515	3	0	0	3	0.00098912	.	.	1309500	not_provided|Fanconi_anemia	MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.42	T	0.826	P	0.339	B	0.585	N	1.000	N	1.04	L	-1.86	D	-0.726	T	0.338	T	0.469	0.615	7.310	0.677	0.283	0.709	1.326	0.334	0.0370754834498	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs755375493	1.072e-05	1.095e-05	1.128e-05	1.015e-05	0.0004	6.44e-06	5.11e-06	6.244e-05	2.578e-05	0	0	0	0	0	0.0004	1.112e-05	1.724e-05	0	1.971e-05	1.97e-05	0	4.034e-05	6.541e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.541e-05	0	0	0	0	2.939e-05	0	0	0.358	0.14793	T	0.446	0.61642	T	0.826	0.45919	P	0.339	0.42346	B	0.585116	0.11105	N	0.807090	1	0.08975	N	1.995	0.54099	M	-1.86	0.84341	D	-2.1	0.56301	N	0.12	0.15888	-0.7262	0.59154	T	0.338	0.70429	T	10	0.17256421	0.32036	T	0.037075	0.57392	D	0.334	0.65620	.	.	0.916997024894	0.91615	0.170257881624353	0.16945	.	.	0.244632318616	0.03223	T	0.189123	0.54325	T	-0.0420843	0.45639	T	-0.192942	0.55314	T	0.109454810619354	0.13366	T	0.668433	0.28305	T	0.17942259	0.39012	0.06397135	0.12750	0.17942259	0.39012	0.06397135	0.12750	-2.898	0.09123	T	0.3000395322763348	0.39734	0.194	0.58072	B	.;.;.	.;.;.	0.772317	0.11424	8.032	0.90853511709274992	0.20103	0.68035	0.33651	D	AEFBHCI	0.090189	0.18277	N	-0.448927799537438	0.23776	1.279209	-0.530567412337954	0.21324	1.153069	0.658067035755672	0.22240	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.25	0.677	0.17130	0.302000	0.18947	2.311000	0.32076	0.676000	0.76740	0.126000	0.23278	0.834000	0.27239	0.034000	0.13613	0.1801:0.1261:0.3967:0.297	1.326	0.01997	698	0.58074	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	474.98	45	chr16	89739527	.	G	T	474.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.102;DP=849;ExcessHet=0.0000;FS=3.048;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=1.15;SOR=0.251	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1194	20	0	1	0
chr16	89767168	89767168	G	C	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon27:c.C2574G:p.S858R	Fanconi anemia, complementation group A, Autosomal recessive	.	3	1387	124	8	0	140	0.0480439	.	.	137995	Fanconi_anemia_complementation_group_A|not_specified|not_provided|Fanconi_anemia|FANCA-related_disorder	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.19	T	0.468	P	0.143	B	0.179	N	1.000	N	1.61	L	-1.88	D	-0.709	T	0.315	T	0.357	-0.052	3.749	1.56	0.073	1.381	4.561	0.134	.	0.0053	0.00938498	0.0103	0.0013	0.0038	0	0.0100	0.0094	0.0099	0.0296	0.0096118	1486	154602	rs17233141	0.0092	0.0093	0.0085	0.0100	0.0324	0.0091	0.0090	0.0314	0.0310	0.0012	0.0043	0.0111	0	0.0093	0.0250	0.0080	0.0100	0.0324	0.0064	0.0064	0.0063	0.0065	0.0255	0.0061	0.0059	0.0218	0.0204	0.0018	0.0011	0.0067	0.0069	0.0002	0.0081	0.0170	0.0079	0.0090	0.0255	0.063	0.37536	T	0.072	0.45110	T	0.257	0.31412	B	0.143	0.33763	B	0.179044	0.17154	N	0.583605	1	0.08975	N	2.24	0.63355	M	-1.88	0.84557	D	-2.16	0.48850	N	0.338	0.39659	-0.7091	0.59997	T	0.315	0.68486	T	10	0.008692145	0.00197	T	.	.	.	0.134	0.36365	0.249	0.18602	.	.	0.17119845704923142	0.17039	.	.	0.284874647856	0.08182	T	0.224342	0.58875	T	-0.321408	0.06783	T	-0.210772	0.53621	T	0.00823742409031721	0.00099	T	0.563744	0.19863	T	0.068879694	0.15043	0.10313486	0.24736	0.086379096	0.20074	0.08347228	0.19130	-4.486	0.30718	T	0.5329796739477456	0.60360	0.201	0.43380	B	.;.	.;.	0.963643	0.13404	9.909	0.93017545135543789	0.22613	0.09317	0.15097	N	AEFBI	0.154989	0.28011	N	-0.867700815936059	0.11617	0.561594	-0.95107218514313	0.10898	0.5518684	0.720075285439065	0.22921	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.77	1.56	0.22423	1.788000	0.38346	3.011000	0.35961	-0.149000	0.12139	0.026000	0.20160	0.585000	0.25641	0.008000	0.08271	0.1928:0.0:0.634:0.1731	4.561	0.11560	671	0.60868	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	1	0	0	1	0	1	0	0.119	4261.42	36	chr16	89767168	.	G	C	4261.42	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-4.680e-01;DP=861;ExcessHet=0.0409;FS=2.815;InbreedingCoeff=0.3189;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=16.39;ReadPosRankSum=0.895;SOR=0.883	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1105	17	1	3	0
chr16	89769951	89769951	G	A	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon26:c.C2390T:p.A797V	Fanconi anemia, complementation group A, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	530421	Fanconi_anemia|Fanconi_anemia_complementation_group_A|not_provided|not_specified	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.55	T	0.002	B	0.001	B	0.261	N	1.000	N	0	N	-1.82	D	-0.737	T	0.285	T	0.041	0.919	8.743	-9.26	-2.861	-1.413	12.127	0.168	0.0352855611351	0.0003	0.000199681	0.0004	0.0006	8.678e-05	0	0	0.0005	0.0011	0.0002	0.0003105	48	154602	rs138248569	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0003	0.0002	0.0002	8.944e-05	3.826e-05	0	1.877e-05	0.0009	0.0002	0.0003	0.0001	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	0.0002	0	0.0002	0	0.0002	0	0	0.0004	0	0	0.537	0.06869	T	0.534	0.09965	T	0.001	0.07471	B	0.001	0.04355	B	0.261112	0.03709	N	1.536950	1	0.08975	N	-0.365	0.03101	N	-1.82	0.84047	D	0.12	0.05604	N	0.029	0.00666	-0.7371	0.58601	T	0.285	0.65724	T	10	0.026365042	0.00805	T	0.035286	0.56245	D	0.168	0.42943	.	.	0.7014751448	0.69889	0.07588697924729894	0.07524	.	.	0.329142212868	0.14805	T	0.068997	0.33598	T	-0.470256	0.00847	T	-0.597111	0.13054	T	0.00241497756322022	0.00025	T	0.542346	0.19192	T	0.01032362	0.00007	0.025166135	0.00552	0.009292143	0.00002	0.024710225	0.00495	-3.754	0.20342	T	0.10835342799951482	0.08924	0.064	0.01668	B	.;.	.;.	-1.040168	0.00715	0.021	0.68435054147734564	0.08657	0.00674	0.02901	N	AEFDBI	0.031507	0.03385	N	-1.76087640924679	0.00648	0.02796099	-1.84408196287035	0.00628	0.02791774	0.999998964789265	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.63	-9.26	0.00563	-1.329000	0.02784	-5.076000	0.01859	-0.659000	0.04360	0.000000	0.06391	0.000000	0.08366	0.091000	0.17840	0.745:0.0:0.1636:0.0913	12.127	0.53225	671	0.60868	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.04762	1786.11	40	chr16	89769951	.	G	A	1786.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.596;DP=906;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=0.453;SOR=0.693	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	19	0	2	0
chr16	89770246	89770246	C	A	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon25:c.G2236T:p.A746S	Fanconi anemia, complementation group A, Autosomal recessive	YES	2	1513	7	0	0	7	0.00230795	.	.	342977	FANCA-related_disorder|Fanconi_anemia_complementation_group_A|Fanconi_anemia|not_provided	.|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.996	D	0.837	P	0.007	N	1.000	D	2.14	M	-2.03	D	0.226	D	0.641	D	0.339	2.638	14.78	3.75	2.388	1.389	10.004	0.374	0.101411964741	.	0.000399361	0.0013	0	0.0009	0	0	0.0002	0	0.0044	0.0003816	59	154602	rs575108446	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0028	0.0027	0	2.584e-05	0	0	0	0.0018	5.663e-05	0.0003	0.0032	0.0002	0.0002	0.0001	0.0004	0.0046	0.0002	0.0002	0.0031	0.0026	2.407e-05	0.0088	0	0	0	0	0	8.822e-05	0	0.0046	0.094	0.34800	T	0.368	0.17640	T	0.991	0.64070	D	0.734	0.55432	P	0.006820	0.31785	N	0.258804	0.931221	0.27052	N	2.595	0.75868	M	-2.03	0.85613	D	-1.58	0.38151	N	0.507	0.57604	0.226	0.86353	D	0.641	0.87442	D	10	0.017692685	0.00379	T	0.101412	0.77427	D	0.374	0.69273	.	.	0.848377370426	0.84692	0.18838922495874405	0.18756	.	.	0.439378619194	0.30491	T	0.360636	0.72685	T	-0.276577	0.11034	T	-0.172482	0.57216	T	0.0988314533091084	0.12228	T	0.858114	0.57479	D	0.1316803	0.30686	0.091280915	0.21453	0.10534849	0.24908	0.09300635	0.21946	-5.255	0.43255	T	0.8429165523238975	0.91100	0.240	0.47912	B	.;.	.;.	4.078100	0.60640	24.2	0.99523908714592113	0.69407	0.90058	0.50943	D	AEFDBI	0.154209	0.27920	N	0.415953226182305	0.62299	4.443546	0.354177331739331	0.58759	4.04856	0.854307646848187	0.25103	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	4.79	3.75	0.42236	1.251000	0.32465	6.028000	0.52885	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.442000	0.27716	0.0:0.7322:0.2678:0.0	10.004	0.41118	671	0.60868	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	939.98	46	chr16	89770246	.	C	A	939.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.560e-01;DP=856;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=-1.160e-01;SOR=0.697	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1439	20	0	1	0
chr16	89771706	89771706	G	A	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon23:c.C2123T:p.T708M	Fanconi anemia, complementation group A, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	1189357	Fanconi_anemia|Fanconi_anemia_complementation_group_A	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.744	P	0.153	B	0.571	N	1.000	N	0	N	-1.85	D	-0.711	T	0.307	T	0.322	2.103	12.99	2.43	0.421	0.777	7.669	0.253	0.16509569533	.	.	4.118e-05	0	0.0002	0	0	0	0	0.0002	3.23e-05	5	154602	rs775960094	2.052e-05	2.052e-05	1.633e-05	2.475e-05	0.0001	1.456e-05	1.264e-05	6.246e-05	4.757e-05	5.974e-05	6.708e-05	0	2.519e-05	0	0	9.892e-06	4.968e-05	0.0001	1.314e-05	1.313e-05	2.57e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.094	0.32453	T	0.051	0.48594	T	0.744	0.43069	P	0.153	0.34292	B	0.571086	0.05480	N	1.281360	1	0.08975	N	0.895	0.22405	L	-1.85	0.84267	D	-1.31	0.32791	N	0.201	0.22228	-0.7110	0.59903	T	0.307	0.67749	T	10	0.210343	0.37426	T	0.165096	0.84405	D	0.253	0.56294	.	.	0.926381392349	0.92563	0.22444683338229854	0.22359	.	.	0.29754036665	0.10035	T	0.178804	0.52958	T	-0.188533	0.22474	T	-0.271923	0.47624	T	0.0506548143746955	0.05614	T	0.735226	0.39759	T	0.025960354	0.01593	0.032917783	0.02102	0.025960354	0.01593	0.032917783	0.02102	-4.136	0.26330	T	0.2483999870984128	0.33633	0.083	0.10449	B	.;.	.;.	1.674894	0.21352	15.16	0.99355197651465954	0.60779	0.13894	0.18111	N	AEFDBI	0.046059	0.07605	N	-0.713118589336418	0.15652	0.7907001	-0.780720900229227	0.14967	0.7848607	0.0290724974712475	0.13867	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.45	2.43	0.28797	0.723000	0.25609	3.037000	0.36065	0.676000	0.76740	0.000000	0.06391	0.286000	0.24137	0.000000	0.00833	0.2056:0.0:0.7944:0.0	7.669	0.27616	671	0.60868	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1674.98	38	chr16	89771706	.	G	A	1674.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.152;DP=890;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=1.37;SOR=0.691	GT:AD:DP:GQ:PL	0/1:65,71:136:99:1689,0,1480	20	0	1	0
chr16	89779944	89779944	G	A	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon18:c.C1640T:p.A547V	Fanconi anemia, complementation group A, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1335130	Fanconi_anemia|not_specified	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	2.42	M	-2.28	D	0.739	D	0.793	D	0.87	3.640	18.51	5.37	2.531	7.447	17.731	0.589	0.312192026379	.	.	0.0001	0	0	0	0	0	0	0.0010	0.0001164	18	154602	rs550821697	6.909e-05	6.909e-05	2.995e-05	0.0001	0.0012	5.78e-05	5.391e-05	0.0010	0.0009	0	0	0	0	0	0	0	1.656e-05	0.0012	5.255e-05	5.253e-05	1.284e-05	9.412e-05	0.0017	2.557e-05	1.83e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000018	0.62929	D	0.000000	0.999881	0.50402	D	2.865	0.83145	M	-2.28	0.87591	D	-3.02	0.62630	D	0.769	0.79696	0.739	0.93653	D	0.793	0.92990	D	10	0.5747272	0.65515	D	0.312192	0.91219	D	0.589	0.83582	0.171	0.07655	0.961536280717	0.96112	0.5549498151830777	0.55421	.	.	0.472491562366	0.35023	T	0.588592	0.86637	D	0.103113	0.64627	D	0.318991	0.89048	D	0.582085132598877	0.35699	D	0.908809	0.73262	D	0.3115217	0.53917	0.32437226	0.58362	0.3115217	0.53918	0.32437226	0.58361	-10.966	0.80365	D	0.5848694286794677	0.65167	0.310	0.53755	B	.;.	.;.	4.316021	0.66020	24.9	0.99869804375651328	0.94726	0.98189	0.80377	D	AEFBI	0.722484	0.67240	D	0.6016340963063	0.73278	5.940077	0.478811205389212	0.66588	4.971669	0.999999714183396	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.696144	0.63334	0	0.714379	0.83352	0	.	.	5.37	5.37	0.76949	7.488000	0.80254	11.600000	0.93469	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.355000	0.25773	0.0:0.0:1.0:0.0	17.731	0.88285	620	0.66037	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1026.98	33	chr16	89779944	.	G	A	1026.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=780;ExcessHet=0.0000;FS=2.903;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=2.21;SOR=0.972	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1075	20	0	1	0
chr16	89808341	89808341	C	A	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_001351830:exon5:c.G453T:p.W151C	Fanconi anemia, complementation group A, Autosomal recessive	YES	4	1517	1	0	0	1	0.000329489	.	.	1309498	not_provided|Fanconi_anemia|Fanconi_anemia_complementation_group_A	MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.001	D	1.000	D	2.175	M	0.88	T	-0.559	T	0.252	T	0.934	1.974	12.56	4.77	2.369	3.781	14.927	0.427	0.194019943109	.	.	8.255e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs758528624	5.472e-06	5.472e-06	5.445e-06	5.5e-06	0.0002	2.35e-06	1.7e-06	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	4.496e-06	0	2.319e-05	6.575e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.91255	D	0.005	0.74150	D	1.0	0.90584	D	0.986	0.92359	D	0.000556	0.43413	D	0.000000	1	0.81001	D	2.25	0.63811	M	0.88	0.46028	T	-8.77	0.99702	D	0.876	0.87373	-0.5592	0.66434	T	0.252	0.62178	T	10	0.9698795	0.96558	D	0.19402	0.86338	D	0.427	0.73445	0.58	0.70604	0.688930815118	0.68626	0.5718420959205982	0.57112	.	.	0.591933786869	0.51767	T	0.682168	0.90678	D	0.245061	0.78137	D	0.129723	0.78876	D	0.992833137512207	0.83423	D	0.951005	0.81346	D	0.7413801	0.80371	0.64577407	0.79290	0.7413801	0.80373	0.64577407	0.79291	-3.454	0.15794	T	0.8807923258725571	0.93860	0.902	0.84477	P	.;.;.;.;.;.	.;.;.;.;.;.	4.080942	0.60700	24.2	0.95898064750241074	0.28123	0.96910	0.71608	D	AEFBI	0.559895	0.56852	D	0.452757545788861	0.64360	4.688686	0.353227024816723	0.58703	4.04239	0.998483304634699	0.37052	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.77	4.77	0.60425	4.077000	0.57320	7.438000	0.58849	0.539000	0.25131	0.999000	0.42656	1.000000	0.68203	0.046000	0.14843	0.0:1.0:0.0:0.0	14.927	0.70537	584	0.69381	Fanconi anaemia group A protein, N-terminal domain;.;.;Fanconi anaemia group A protein, N-terminal domain;Fanconi anaemia group A protein, N-terminal domain;Fanconi anaemia group A protein, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	778.98	36	chr16	89808341	.	C	A	778.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.290;DP=860;ExcessHet=0.0000;FS=2.837;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.11;ReadPosRankSum=0.197;SOR=0.763	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1367	20	0	1	0
chr16	89816593	89816593	T	C	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon1:c.A23G:p.N8S	Fanconi anemia, complementation group A, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	401943	Fanconi_anemia|not_provided	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.94	T	0.001	B	0.003	B	0.167	N	1.000	N	0	N	0.27	T	-0.772	T	0.190	T	0.159	1.036	9.234	-8.45	-1.694	-3.615	2.011	0.071	0.588627036516	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs757468756	3.346e-05	3.352e-05	2.445e-05	4.268e-05	3.806e-05	2.565e-05	2.294e-05	2.831e-05	2.548e-05	0	0	0	0	0	0	3.806e-05	8.725e-05	0	3.949e-05	3.942e-05	3.86e-05	4.041e-05	7.359e-05	1.718e-05	1.131e-05	2.849e-05	1.86e-05	0	0	6.546e-05	0	0	0	0	7.359e-05	0	0	0.575	0.06282	T	0.781	0.20944	T	0.0	0.07471	B	0.001	0.08700	B	0.166706	0.03079	N	2.015170	1	0.08975	N	-0.345	0.03330	N	-1.7	0.83241	D	0.33	0.08653	N	0.095	0.10056	-0.7720	0.56748	T	0.190	0.54227	T	10	0.10909128	0.20336	T	0.588627	0.96338	D	0.071	0.20720	0.069	0.00373	0.60758616937	0.60443	0.05718368353854332	0.05659	.	.	0.638113498688	0.58295	T	0.054128	0.29635	T	-0.258583	0.13066	T	-0.428917	0.30057	T	0.0551954920542101	0.06390	T	0.651035	0.26183	T	0.03018734	0.02639	0.027294872	0.00872	0.03018734	0.02638	0.027294872	0.00872	-0.824	0.00916	T	.	.	0.063	0.03661	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.305878	0.00050	0.001	0.57143828860252588	0.05705	0.02245	0.06508	N	AEFGBHCIJ	0.029413	0.02771	N	-1.76110767003549	0.00648	0.02793268	-1.84342595581323	0.00630	0.02799102	1.0	0.98316	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.22	-8.45	0.00826	-4.844000	0.00208	-14.423000	0.00404	-1.227000	0.01331	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1112:0.2231:0.3309:0.3348	2.011	0.03276	588	0.69043	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	266.98	35	chr16	89816593	.	T	C	266.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.997;DP=846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.36;ReadPosRankSum=-6.530e-01;SOR=0.782	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1136	20	0	1	0
chr16	89869576	89869576	C	T	exonic	SPIRE2	.	nonsynonymous SNV	SPIRE2:NM_032451:exon14:c.C1816T:p.P606S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.85	M	-0.92	T	0.435	D	0.637	D	0.949	4.743	26.5	5.12	2.404	7.177	17.585	0.742	0.624971319735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	2.736e-06	2.727e-06	1.377e-06	2.703e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.703e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.535	0.73915	M	-0.92	0.75108	T	-6.48	0.91522	D	0.933	0.93841	0.435	0.89610	D	0.637	0.87297	D	10	0.86989975	0.86251	D	0.624971	0.96763	D	0.742	0.91069	0.33	0.31519	0.702209452606	0.69962	0.6466799426783445	0.64602	0.666306048472	0.59188	0.689359009266	0.65614	T	0.505329	0.82402	D	0.378181	0.88592	D	0.305454	0.88448	D	0.995676457881927	0.87860	D	0.936306	0.76101	D	0.72487193	0.79434	0.63025045	0.78432	0.72487193	0.79436	0.63025045	0.78433	-9.7	0.72096	D	.	.	0.936	0.85503	P	.	.	4.910188	0.80777	27.4	0.99916085813329869	0.98379	0.94580	0.61629	D	AEFBCI	0.867787	0.78768	D	0.856420707391588	0.89471	9.985321	0.79806771131433	0.89658	10.06691	0.999999993774134	0.74766	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.664235	0.64389	0	.	.	5.12	5.12	0.69459	7.414000	0.79329	7.582000	0.60992	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	17.585	0.87879	604	0.67577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1016.98	34	chr16	89869576	.	C	T	1016.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.690e+00;DP=828;ExcessHet=0.0000;FS=3.502;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.00;ReadPosRankSum=-6.980e-01;SOR=0.485	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1287	20	0	1	0
chr16	89900636	89900636	C	G	exonic	TCF25	.	nonsynonymous SNV	TCF25:NM_014972:exon12:c.C1223G:p.A408G,	.	.	425	1081	15	1	0	17	0.00780174	0.0001	0.014	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.024	B	0.039	B	0.209	N	0.923	D	1.07	L	.	.	-0.906	T	0.098	T	0.213	1.128	9.597	1.94	1.259	0.569	10.574	0.027	0.0038737488847	0.0037	0.00219649	0.0037	0.0006	0.0036	0.0001	0.0009	0.0047	0.0011	0.0052	0.0036287	561	154602	rs75719943	0.0046	0.0046	0.0046	0.0047	0.0050	0.0046	0.0045	0.0049	0.0048	0.0005	0.0023	0.0136	0	0.0008	0.0049	0.0050	0.0043	0.0050	0.0030	0.0030	0.0034	0.0025	0.0045	0.0028	0.0027	0.0040	0.0039	0.0008	0	0.0018	0.0153	0.0004	0.0010	0	0.0045	0.0028	0.0039	0.194	0.28520	T	0.261	0.22962	T	0.018	0.19075	B	0.026	0.23607	B	0.208935	0.16413	N	0.659388	0.922594	0.36722	D	0.975	0.24501	L	.	.	.	-1.65	0.39503	N	0.17	0.19055	-0.9063	0.47297	T	0.098	0.36574	T	9	0.008198619	0.00186	T	0.003874	0.09086	T	0.027	0.05988	.	.	0.314417295294	0.31040	0.10664353812247865	0.10594	0.154448843171	0.17448	0.322857230902	0.13853	T	0.032788	0.26786	T	-0.483383	0.00707	T	-0.464511	0.26109	T	0.00264271366004096	0.00028	T	0.794521	0.44963	T	0.12059963	0.28374	0.11749133	0.28364	0.12059963	0.28374	0.11749133	0.28363	-6.395	0.49471	T	.	.	0.084	0.09723	B	.;.	.;.	1.691293	0.21548	15.25	0.9789408958704614	0.36690	0.67411	0.33423	D	AEFGBCI	0.247582	0.36813	N	-0.520414616955509	0.21421	1.136666	-0.396363472616956	0.25105	1.378669	0.00958903472302979	0.11879	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.36	1.94	0.25058	0.747000	0.25956	1.148000	0.24458	-0.279000	0.06446	0.978000	0.35038	0.658000	0.26000	0.682000	0.33600	0.1134:0.515:0.3716:0.0	10.574	0.44406	624	0.65661	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1467.98	33	chr16	89900636	.	C	G	1467.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.268e+00;DP=870;ExcessHet=0.0000;FS=0.594;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.35;ReadPosRankSum=-1.003e+00;SOR=0.636	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1380	20	0	1	0
chr16	89919683	89919683	G	A	exonic	MC1R	.	nonsynonymous SNV	MC1R:NM_002386:exon1:c.G425A:p.R142H,	.	.	0	1511	11	0	0	11	0.00362677	.	.	242565	not_provided|Melanoma,_cutaneous_malignant,_susceptibility_to,_5	MedGen:C3661900|MONDO:MONDO:0013133,MedGen:C2751295,OMIM:613099,Orphanet:618	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.001	U	1.000	D	4.11	H	-4.27	D	0.907	D	0.957	D	0.884	5.507	35	4.81	2.234	6.453	16.852	0.755	0.59575954153	0.0052	0.00279553	0.0050	0.0011	0.0079	0.0001	0.0012	0.0073	0.0056	0.0001	0.0049547	766	154602	rs11547464	0.0065	0.0064	0.0066	0.0063	0.0132	0.0063	0.0063	0.0108	0.0099	0.0009	0.0068	0.0177	2.52e-05	0.0013	0.0132	0.0072	0.0069	0.0002	0.0047	0.0047	0.0051	0.0043	0.0069	0.0044	0.0043	0.0064	0.0061	0.0014	0	0.0067	0.0181	0.0002	0.0004	0.0102	0.0069	0.0080	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.001119	0.40219	U	0.000000	0.999999	0.58761	D	4.235	0.97980	H	-4.27	0.97101	D	-4.93	0.81755	D	0.958	0.96758	0.907	0.95776	D	0.957	0.98609	D	9	0.015277147	0.00321	T	0.59576	0.96424	D	0.755	0.91626	.	.	0.98089886461	0.98068	0.7838012175412242	0.78331	0.133499110863	0.15033	.	.	.	0.695796	0.91196	D	0.216927	0.75486	D	0.54255	0.95449	D	0.105501388884297	0.12951	T	0.864413	0.56163	D	0.8797992	0.89650	0.78236425	0.87174	0.8797992	0.89652	0.78236425	0.87174	-5.054	0.37420	T	0.8385628509914691	0.90762	0.358	0.57098	A	.;.;.;.	.;.;.;.	4.431103	0.68712	25.3	0.99953683858538223	0.99963	0.92772	0.56508	D	AEFDBHCI	0.861412	0.77948	D	0.871817625773533	0.90312	10.348	0.761132318009018	0.86986	9.068815	1.0	0.98316	0.635344	0.42169	0	0.610034	0.51514	0	0.654045	0.52621	0	0.567892	0.33627	0	.	.	4.81	4.81	0.61401	8.072000	0.89294	4.176000	0.42305	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.015000	0.10482	0.0:0.0:1.0:0.0	16.852	0.85864	616	0.66398	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	865.98	33	chr16	89919683	.	G	A	865.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.314;DP=961;ExcessHet=0.0000;FS=2.051;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=0.935;SOR=0.460	GT:AD:DP:GQ:PL	0/0:177,0:177:99:0,120,1800	20	0	1	0
chr16	89920024	89920024	C	T	exonic	MC1R	.	nonsynonymous SNV	MC1R:NM_002386:exon1:c.C766T:p.P256S,	.	.	1	1520	1	0	0	1	0.000328839	.	.	467261	Tyrosinase-positive_oculocutaneous_albinism|Increased_analgesia_from_kappa-opioid_receptor_agonist,_female-specific|Skin/hair/eye_pigmentation,_variation_in,_2|Melanoma,_cutaneous_malignant,_susceptibility_to,_5	MONDO:MONDO:0008746,MedGen:C0268495,OMIM:203200,Orphanet:79432|MedGen:C2751296,OMIM:613098|MedGen:C1849452,OMIM:266300|MONDO:MONDO:0013133,MedGen:C2751295,OMIM:613099,Orphanet:618	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.660	U	1.000	D	4.255	H	-1.36	T	0.783	D	0.827	D	0.935	5.178	32	5.27	2.475	5.780	17.861	0.770	0.335607649911	0.0002	.	0.0002	0	8.655e-05	0	0	0.0002	0	0.0002	0.0001488	23	154602	rs200215218	0.0001	0.0001	0.0001	0.0002	0.0014	0.0001	0.0001	0.0007	0.0005	0	6.708e-05	0.0030	0	0	0.0014	6.026e-05	0.0004	0.0003	8.54e-05	8.536e-05	8.992e-05	8.067e-05	7.236e-05	4.956e-05	3.962e-05	1.972e-05	1.124e-05	7.236e-05	0	6.541e-05	0.0012	0	0	0	5.88e-05	0.0005	0	0.0	0.91255	D	0.004	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.660336	0.10433	U	0.766304	0.999997	0.58761	D	4.505	0.98992	H	-1.36	0.80125	T	-7.31	0.94511	D	0.905	0.90590	0.783	0.94204	D	0.827	0.94186	D	9	0.4708095	0.59850	T	0.335608	0.91873	D	0.770	0.92253	.	.	0.931333358663	0.93062	0.8024894890513804	0.80202	0.130723557862	0.14746	.	.	.	0.686723	0.90853	D	0.233161	0.77018	D	0.393335	0.91896	D	0.950258791446686	0.63295	D	0.956938	0.83632	D	0.9405113	0.95299	0.90024084	0.94993	0.9405113	0.95300	0.90024084	0.94994	-9.598	0.71467	D	0.6608202178945025	0.73428	0.646	0.70767	P	.;.;.;.	.;.;.;.	4.920016	0.81031	27.5	0.99933057395113001	0.99488	0.92827	0.56643	D	AEFBCI	0.838622	0.75611	D	0.934457400628019	0.93342	11.97647	0.833182782423548	0.91997	11.17991	1.0	0.98316	0.635344	0.42169	0	0.610034	0.51514	0	0.654045	0.52621	0	0.664235	0.64389	0	.	.	5.27	5.27	0.73797	7.839000	0.85040	7.495000	0.59416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.861	0.88695	616	0.66398	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	3151.98	33	chr16	89920024	.	C	T	3151.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=1003;ExcessHet=0.0000;FS=2.926;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=-1.125e+00;SOR=0.529	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	20	0	1	0
chr16	89965923	89965923	A	G	exonic	DEF8	.	nonsynonymous SNV	DEF8:NM_001242817:exon12:c.A1136G:p.Q379R	.	.	416	1094	12	0	0	12	0.00545455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.435	B	0.086	B	0.001	N	1.000	D	1.61	L	0.89	T	-1.058	T	0.080	T	0.242	2.674	14.90	3.32	0.755	2.704	7.729	0.043	0.0172251356361	.	0.000199681	0.0009	0.0001	0.0003	0	0	0.0002	0.0024	0.0052	0.0006856	106	154602	rs202055951	0.0004	0.0004	0.0003	0.0005	0.0045	0.0004	0.0004	0.0041	0.0040	2.987e-05	0.0004	0	0	0	0.0042	0.0001	0.0006	0.0045	0.0003	0.0003	0.0003	0.0004	0.0050	0.0002	0.0002	0.0034	0.0029	9.629e-05	0.0099	6.536e-05	0	0	0	0.0034	0.0001	0.0005	0.0050	0.042	0.44029	D	0.088	0.41405	T	0.001	0.35719	B	0.001	0.29521	B	0.001306	0.39449	N	0.170753	0.94986	0.38926	D	2.25	0.63811	M	0.92	0.91956	T	-1.06	0.27669	N	0.106	0.15749	-1.0579	0.12286	T	0.080	0.31705	T	10	0.005384147	0.00118	T	0.017225	0.38843	T	0.043	0.11576	.	.	0.564579235405	0.56121	0.45647020073458555	0.45565	0.602164739039	0.55238	0.399929523468	0.25058	T	0.009299	0.08472	T	-0.275869	0.11111	T	-0.168502	0.57579	T	0.0350807525866559	0.02822	T	0.756024	0.37907	T	0.08549143	0.19833	0.10329579	0.24781	0.08549143	0.19832	0.10329579	0.24781	-5.914	0.49196	T	.	.	0.090	0.12560	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.551989	0.33031	19.22	0.99031935297554652	0.50830	0.76238	0.37376	D	AEFDBI	0.234281	0.35707	N	-0.19890250793686	0.33179	1.879528	-0.0898632112949158	0.35808	2.076101	0.785460660593361	0.23922	0.787689	0.99735	0	0.709663	0.81188	0	0.0	0.00061	3	0.714379	0.83352	0	.	.	4.44	3.32	0.37134	3.122000	0.50139	3.591000	0.39190	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.8103:0.0:0.1897:0.0	7.729	0.27941	633	0.64743	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	748.98	33	chr16	89965923	.	A	G	748.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.228e+00;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.13;ReadPosRankSum=1.16;SOR=0.654	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	20	0	1	0
chr16	90009419	90009419	C	T	exonic	DBNDD1	.	nonsynonymous SNV	DBNDD1:NM_001042610:exon2:c.G43A:p.E15K	.	.	422	1094	6	0	0	6	0.00273473	.	.	2201502	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.728	P	0.366	B	0.117	N	0.962	N	2.2	M	1.55	T	-1.051	T	0.069	T	0.35	2.962	15.87	3.94	1.031	2.204	11.151	0.098	0.0202762082611	0.0004	0.000998403	0.0009	0.0001	0.0022	0	0	0.0009	0.0023	0.0009	0.0007762	120	154602	rs201800670	0.0006	0.0006	0.0006	0.0006	0.0038	0.0006	0.0006	0.0026	0.0022	0.0002	0.0017	0.0016	0	0	0.0038	0.0006	0.0008	0.0005	0.0007	0.0007	0.0008	0.0007	0.0013	0.0006	0.0006	0.0009	0.0007	0.0002	0	0.0013	0.0026	0	0	0	0.0010	0.0014	0.0010	0.004	0.68238	D	0.084	0.66756	T	0.728	0.42542	P	0.366	0.43381	B	0.117431	0.19153	N	0.505809	0.961993	0.26084	N	2.135	0.59519	M	1.55	0.29866	T	-1.86	0.49846	N	0.399	0.45898	-1.0513	0.14036	T	0.069	0.28147	T	9	0.0068715215	0.00156	T	0.020276	0.42842	T	0.098	0.28162	.	.	0.0138822411134	0.00435	0.26324308742957114	0.26237	0.44625824241	0.44504	0.489405095577	0.37355	T	0.074383	0.34925	T	-0.445424	0.01202	T	-0.425828	0.30409	T	0.0385339778986064	0.03427	T	0.855114	0.54640	D	0.15155777	0.34448	0.1643971	0.38084	0.15155777	0.34447	0.1643971	0.38084	-4.782	0.40996	T	.	.	0.109	0.35684	B	.;.;.;.	.;.;.;.	4.122651	0.61634	24.4	0.998648731782252	0.94276	0.83088	0.42236	D	AEFDGBI	0.110535	0.21916	N	-0.143488096186244	0.35513	2.04075	-0.203898688213008	0.31396	1.776404	0.999996075129988	0.74766	0.615465	0.37627	0	0.480063	0.06835	0	0.606735	0.37207	0	0.655142	0.61905	0	.	.	4.92	3.94	0.44807	1.787000	0.38336	3.158000	0.36555	0.599000	0.40250	0.864000	0.30684	0.999000	0.35428	0.130000	0.19568	0.0:0.8135:0.1865:0.0	11.151	0.47685	745	0.52414	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1997.98	33	chr16	90009419	.	C	T	1997.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.578e+00;DP=865;ExcessHet=0.0000;FS=1.207;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=0.087;SOR=0.836	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1349	20	0	1	0
chr16	90032745	90032745	C	G	exonic	GAS8	.	nonsynonymous SNV	GAS8:NM_001286205:exon4:c.C67G:p.L23V	Ciliary dyskinesia, primary, 33, Autosomal recessive	.	422	1099	1	0	0	1	0.000454752	.	.	530784	Primary_ciliary_dyskinesia_33	MONDO:MONDO:0014750,MedGen:C4225230,OMIM:616726,Orphanet:244	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	1.0	D	0.998	D	0.000	D	1.000	D	3.16	M	1.2	T	-0.388	T	0.292	T	0.824	4.210	21.9	5.91	2.804	0.615	14.468	0.233	0.036396947831	7.7e-05	0.000399361	0.0005	9.615e-05	0	0	0	1.5e-05	0.0033	0.0032	0.0003881	60	154602	rs140344685	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0029	0.0027	0.0001	2.237e-05	0	0	0	0	3.597e-05	0.0002	0.0032	0.0002	0.0002	0.0001	0.0002	0.0029	0.0001	8.722e-05	0.0018	0.0014	0.0002	0	0	0	0	0	0	0	0.0009	0.0029	0.03	0.63226	D	0.042	0.56640	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	.	.	.	1.2	0.37746	T	-2.2	0.52289	N	0.571	0.59393	-0.3875	0.72420	T	0.292	0.66393	T	9	0.016557008	0.00349	T	0.036397	0.56964	D	0.233	0.53499	.	.	0.339555952218	0.33569	0.2617644226040734	0.26089	0.0839518513785	0.09469	0.649728417397	0.59947	T	0.14081	0.47554	T	-0.191293	0.22067	T	-0.051233	0.66938	D	0.201506805350652	0.20499	T	0.976502	0.91859	D	0.204449	0.42555	0.21911705	0.46639	0.20446754	0.42557	0.23497649	0.48728	-9.489	0.74893	D	.	.	0.436	0.66837	A	.;.;.;.;.	.;.;.;.;.	3.507948	0.49109	22.7	0.99848208517616643	0.92750	0.96154	0.67780	D	AEFDGBHI	0.495598	0.53090	N	0.738096576955428	0.82129	7.686709	0.694517976936683	0.81962	7.650859	0.999999997099958	0.74766	0.706548	0.73137	0	0.524598	0.11158	1	0.724815	0.87919	0	0.756233	0.99697	0	.	.	5.91	5.91	0.95240	0.578000	0.23476	0.511000	0.19080	0.599000	0.40250	0.997000	0.40164	0.996000	0.32793	0.996000	0.76049	0.0:0.9281:0.0:0.0719	14.468	0.67075	759	0.50631	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2048.98	39	chr16	90032745	.	C	G	2048.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.269e+00;DP=1104;ExcessHet=0.0000;FS=0.579;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.20;ReadPosRankSum=1.00;SOR=0.601	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1344	20	0	1	0
chr16	90075852	90075852	C	T	exonic	PRDM7	.	nonsynonymous SNV	PRDM7:NM_001098173:exon2:c.G59A:p.R20Q,	.	.	400	1119	3	0	0	3	0.00133869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	B	0.001	B	.	.	1.000	N	-0.205	N	2.82	T	-0.930	T	0.005	T	0.039	-0.114	3.442	-1.02	-0.259	0.095	2.712	0.006	.	0.0003	0.00259585	0.0021	0	0	0.0151	0.0022	0.0012	0.0024	0.0014	0.0017335	268	154602	rs144692165	0.0011	0.0011	0.0011	0.0011	0.0232	0.0011	0.0011	0.0219	0.0214	2.987e-05	0.0001	0.0008	0.0232	0.0022	0.0005	0.0003	0.0012	0.0016	0.0008	0.0008	0.0007	0.0010	0.0129	0.0007	0.0007	0.0104	0.0095	4.81e-05	0	0.0003	0	0.0129	0.0021	0	0.0003	0	0.0027	0.335	0.12920	T	0.353	0.17320	T	0.008	0.14655	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	2.82	0.10871	T	-0.11	0.08653	N	0.106	0.09066	-0.9304	0.44080	T	0.005	0.01725	T	8	0.0034432411	0.00061	T	.	.	.	0.006	0.00375	.	.	0.0762999501168	0.06990	0.08908170968935218	0.08841	0.0618120787158	0.06886	0.263909578323	0.05365	T	0.020015	0.15833	T	-0.769923	0.00013	T	-0.86833	0.00758	T	0.00765182279565243	0.00089	T	0.49515	0.15352	T	0.023965793	0.01182	0.027291644	0.00872	0.023965793	0.01182	0.027291644	0.00872	-3.898	0.22273	T	.	.	0.067	0.02578	B	.;.	.;.	0.480527	0.08498	5.261	0.66112006586106919	0.07964	0.00729	0.03060	N	AEFBI	0.031717	0.03446	N	-1.44025706935271	0.02294	0.1011503	-1.50391747384553	0.02314	0.1062226	0.796287780310632	0.24105	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	1.39	-1.02	0.09618	-0.017000	0.12529	-0.536000	0.08609	-0.973000	0.01932	0.003000	0.16062	0.000000	0.08366	0.000000	0.00833	0.0:0.4761:0.306:0.2179	2.712	0.04857	819	0.41190	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1896.98	37	chr16	90075852	.	C	T	1896.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=923;ExcessHet=0.0000;FS=2.953;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=-7.990e-01;SOR=0.476	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr17	181469	181469	C	T	exonic	DOC2B	.	nonsynonymous SNV	DOC2B:NM_003585:exon1:c.G11A:p.R4Q,	.	.	404	1094	23	1	0	25	0.0112969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	1.0	D	0.992	D	.	.	0.995	N	.	.	-0.17	T	-0.086	T	0.398	T	0.373	3.071	16.25	3.15	1.296	2.090	13.257	0.194	.	.	0.000399361	0.0060	0	0	0	0	0.0057	0.0588	0.0068	0.0007956	123	154602	rs548884378	0.0025	0.0021	0.0025	0.0026	0.0062	0.0025	0.0024	0.0038	0.0030	0.0003	0.0015	0.0025	0.0003	0.0007	0.0062	0.0026	0.0024	0.0025	0.0019	0.0019	0.0020	0.0018	0.0031	0.0017	0.0017	0.0028	0.0027	0.0005	0	0.0016	0.0021	0	0.0006	0.0139	0.0031	0.0029	0.0021	.	.	.	0.283	0.21478	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.20262	-0.0859	0.80420	T	0.398	0.75045	T	7	0.0076004267	0.00173	T	.	.	.	.	.	.	.	0.52515372042	0.52161	0.16111888608415761	0.16032	.	.	0.72923386097	0.71395	T	0.064615	0.32480	T	-0.375144	0.03341	T	-0.312165	0.43425	T	0.0650161765479103	0.07933	T	0.608539	0.22995	T	0.078002155	0.17738	0.24301709	0.49735	0.078002155	0.17738	0.24301709	0.49734	-4.318	0.28428	T	.	.	0.122	0.25429	B	.	.	2.820107	0.37150	20.4	0.99639380534066346	0.76571	0.43722	0.27161	N	AEFDBI	0.226590	0.35052	N	0.262553181578888	0.54263	3.592291	0.175727727882014	0.48521	3.066895	0.999999999143442	0.74766	0.59774	0.34471	0	0.578056	0.33634	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	3.15	3.15	0.35301	1.273000	0.32724	4.019000	0.41233	-0.498000	0.05027	0.940000	0.32642	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	13.257	0.59514	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1387.08	50	chr17	181469	.	C	T	1387.08	.	AC=2;AF=0.048;AN=42;DP=837;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=27.74;SOR=1.157	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1134	20	1	0	0
chr17	413815	413815	C	0	exonic	C17orf97	.	.	.	.	.	492	947	19	0	64	83	0.00993204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2918.97	43	chr17	413815	.	C	T,*	2918.97	.	AC=5,4;AF=0.139,0.111;AN=36;BaseQRankSum=-9.170e-01;DP=995;ExcessHet=1.0444;FS=2.763;InbreedingCoeff=-0.0264;MLEAC=6,4;MLEAF=0.167,0.111;MQ=51.80;MQRankSum=-3.755e+00;QD=7.60;ReadPosRankSum=-9.580e-01;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0,0:42:99:.:.:0,102,1297,102,1297,1297	10	0	5	3
chr17	413822	413822	C	0	exonic	C17orf97	.	.	.	.	.	509	931	17	0	65	82	0.00904737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3137.97	43	chr17	413822	.	C	A,*	3137.97	.	AC=5,4;AF=0.139,0.111;AN=36;BaseQRankSum=-1.168e+00;DP=1002;ExcessHet=1.0444;FS=2.178;InbreedingCoeff=-0.0264;MLEAC=6,4;MLEAF=0.167,0.111;MQ=52.17;MQRankSum=-3.592e+00;QD=7.94;ReadPosRankSum=-4.250e-01;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0,0:42:99:.:.:0,102,1297,102,1297,1297	10	0	5	3
chr17	413824	413824	C	0	exonic	C17orf97	.	.	.	.	.	487	954	61	4	16	85	0.0349014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3065.97	43	chr17	413824	.	C	T,*	3065.97	.	AC=5,4;AF=0.139,0.111;AN=36;BaseQRankSum=0.335;DP=1012;ExcessHet=1.0444;FS=2.500;InbreedingCoeff=-0.0264;MLEAC=6,4;MLEAF=0.167,0.111;MQ=52.20;MQRankSum=-3.428e+00;QD=7.59;ReadPosRankSum=-6.710e-01;SOR=0.530	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0,0:42:99:.:.:0,102,1297,102,1297,1297	10	0	5	3
chr17	413831	413831	A	0	exonic	C17orf97	.	.	.	.	.	725	697	61	4	35	104	0.0471634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3197.3	43	chr17	413831	.	A	G,*	3197.3	.	AC=5,4;AF=0.139,0.111;AN=36;BaseQRankSum=0.140;DP=1043;ExcessHet=1.1637;FS=2.534;InbreedingCoeff=0.0221;MLEAC=6,4;MLEAF=0.167,0.111;MQ=52.56;MQRankSum=-3.559e+00;QD=7.69;ReadPosRankSum=-1.155e+00;SOR=0.480	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0,0:42:99:.:.:0,102,1297,102,1297,1297	10	0	5	3
chr17	443179	443179	G	A	exonic	RFLNB	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.492e-06	0	0	0	0	1.694e-05	0	0	6.5e-06	1	154602	rs782397815	1.37e-06	1.368e-06	0	2.754e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	1.313e-05	1.312e-05	0	2.685e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	436.98	34	chr17	443179	.	G	A	436.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.356e+00;DP=737;ExcessHet=0.0000;FS=1.118;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.57;ReadPosRankSum=0.775;SOR=0.475	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1292	20	0	1	0
chr17	532865	532865	T	C	exonic	VPS53	.	nonsynonymous SNV	VPS53:NM_018289:exon18:c.A1975G:p.I659V	Pontocerebellar hypoplasia, type 2E, Autosomal recessive	.	433	1068	20	1	0	22	0.0101946	.	.	363728	Pontocerebellar_hypoplasia_type_2E|Microcephaly|not_provided	MONDO:MONDO:0014370,MedGen:C4014488,OMIM:615851,Orphanet:247198|Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.47	T	0.019	B	0.034	B	0.000	D	1.000	D	1.04	L	1.4	T	-1.045	T	0.099	T	0.271	2.045	12.79	5.08	1.920	3.916	14.019	0.036	.	0.0009	0.00519169	0.0035	0.0005	0.0030	0.0100	0	0.0014	0.0068	0.0124	0.0031824	492	154602	rs140376049	0.0018	0.0018	0.0016	0.0021	0.0108	0.0018	0.0018	0.0102	0.0100	0.0002	0.0029	0.0039	0.0050	0.0002	0.0104	0.0010	0.0026	0.0108	0.0018	0.0018	0.0016	0.0020	0.0137	0.0016	0.0016	0.0110	0.0101	0.0004	0	0.0033	0.0052	0.0068	9.423e-05	0.0102	0.0012	0.0024	0.0137	0.436	0.16683	T	0.525	0.14725	T	0.004	0.17989	B	0.011	0.22546	B	0.000005	0.62929	D	0.103872	0.999995	0.81001	D	1.025	0.25523	L	1.4	0.50459	T	-0.37	0.15178	N	0.344	0.43995	-1.0448	0.15884	T	0.099	0.36856	T	10	0.009616137	0.00217	T	.	.	.	0.036	0.09122	.	.	0.232513804876	0.22884	0.27455534500255907	0.27368	0.288955871697	0.31300	0.591659486294	0.51728	T	0.106667	0.41820	T	-0.465481	0.00908	T	-0.430376	0.29894	T	0.00606719036809914	0.00067	T	.	.	.	0.09081424	0.21262	0.14843798	0.35088	0.09562082	0.22507	0.14770514	0.34943	-6.417	0.49642	T	.	.	0.077	0.06803	B	.;.;.;.	.;.;.;.	2.567707	0.33263	19.29	0.98519920318753362	0.42447	0.96055	0.67329	D	AEFBI	0.580715	0.58101	D	-0.175878687463541	0.34142	1.945147	0.0143875825731752	0.40381	2.409062	0.99651892825105	0.34798	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	3.898000	0.55993	4.168000	0.42254	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:0.0:1.0	14.019	0.64063	630	0.65016	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	2204.11	78	chr17	532865	.	T	C	2204.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.224e+00;DP=813;ExcessHet=0.1072;FS=0.604;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=-5.090e-01;SOR=0.622	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	19	0	2	0
chr17	746331	746331	T	C	exonic	GEMIN4	.	nonsynonymous SNV	GEMIN4:NM_015721:exon2:c.A1712G:p.N571S,	.	.	424	1077	20	1	0	22	0.0101103	.	.	704357	not_provided|GEMIN4-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	2.095	M	2.54	T	-1.121	T	0.064	T	0.287	2.686	14.94	4.76	1.046	2.785	11.176	0.295	.	0.0056	0.00559105	0.0048	0.0018	0.0030	0.0008	0.0011	0.0061	0.0011	0.006	0.0047218	730	154602	rs111822058	0.0059	0.0059	0.0059	0.0060	0.0116	0.0058	0.0058	0.0094	0.0086	0.0018	0.0040	0.0020	0.0003	0.0013	0.0116	0.0065	0.0067	0.0067	0.0043	0.0043	0.0042	0.0044	0.0085	0.0040	0.0039	0.0064	0.0057	0.0020	0.0088	0.0045	0.0020	0.0008	0.0004	0.0136	0.0062	0.0047	0.0085	0.028	0.46129	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.045268	0.999373	0.46831	D	2.535	0.73915	M	2.54	0.13916	T	-4.79	0.80595	D	0.226	0.28146	-1.1212	0.02257	T	0.064	0.26562	T	10	0.010183573	0.00228	T	.	.	.	0.295	0.61502	.	.	0.448696893172	0.44491	0.5651595224238298	0.56442	0.118032548597	0.13290	0.363972395658	0.19962	T	0.237833	0.60560	T	-0.488685	0.00661	T	-0.470733	0.25436	T	0.0870820286598924	0.10868	T	0.816218	0.47186	T	0.29135194	0.52118	0.18160953	0.41036	0.24770755	0.47751	0.18829678	0.42112	-2.841	0.08567	T	.	.	0.095	0.14797	B	.;.	.;.	1.978345	0.25134	16.65	0.99740898629905883	0.83482	0.93597	0.58653	D	AEFBCI	0.368896	0.45583	N	0.344629667983594	0.58455	4.018016	0.241704223935639	0.52180	3.394476	0.699258657378525	0.22677	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.84	4.76	0.60189	2.820000	0.47757	-0.138000	0.11547	0.609000	0.47794	1.000000	0.71638	0.001000	0.17328	0.223000	0.22544	0.0:0.0716:0.0:0.9284	11.176	0.47828	942	0.12992	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2382.98	33	chr17	746331	.	T	C	2382.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.012e+00;DP=2707;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.39;ReadPosRankSum=-4.210e-01;SOR=0.734	GT:AD:DP:GQ:PL	0/0:123,0:123:99:0,120,1800	20	0	1	0
chr17	746362	746362	C	A	exonic	GEMIN4	.	nonsynonymous SNV	GEMIN4:NM_015721:exon2:c.G1681T:p.V561L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.099	B	0.041	B	0.000	D	1.000	D	1.24	L	2.27	T	-1.088	T	0.037	T	0.493	0.074	4.398	4.82	2.779	1.809	15.547	0.073	0.00560473179668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.543	0.06735	T	0.171	0.30436	T	0.099	0.25639	B	0.041	0.23986	B	0.000233	0.47286	D	0.137832	0.997128	0.43648	D	1.845	0.48678	L	2.27	0.17431	T	-0.04	0.07590	N	0.366	0.40864	-1.0883	0.05821	T	0.037	0.15770	T	10	0.20383835	0.36554	T	0.005605	0.14469	T	0.073	0.21317	0.45	0.51121	0.303123707472	0.29912	0.24898750534763694	0.24812	0.153351658725	0.17303	0.599002361298	0.52762	T	0.010521	0.09491	T	-0.144128	0.29234	T	-0.444807	0.28273	T	0.150632619857788	0.17154	T	0.743426	0.36288	T	0.05914177	0.11985	0.06299351	0.12410	0.05914177	0.11985	0.06299351	0.12409	-3.339	0.14245	T	.	.	0.259	0.49334	B	.;.	.;.	2.023479	0.25718	16.86	0.84668860130870516	0.15427	0.75694	0.37074	D	AEFGBCI	0.086164	0.17469	N	-0.172974170491084	0.34264	1.953571	-0.0154381329595691	0.39017	2.307135	0.58802200092341	0.21624	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.84	4.82	0.61641	1.870000	0.39166	4.892000	0.45774	0.549000	0.26987	0.902000	0.31475	1.000000	0.68203	0.430000	0.27449	0.0:0.8621:0.1379:0.0	15.547	0.75846	942	0.12992	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	6121.08	33	chr17	746362	.	C	A	6121.08	.	AC=2;AF=0.048;AN=42;DP=2679;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.56;SOR=0.953	GT:AD:DP:GQ:PL	0/0:123,0:123:99:0,120,1800	20	1	0	0
chr17	746794	746794	G	A	exonic	GEMIN4	.	nonsynonymous SNV	GEMIN4:NM_015721:exon2:c.C1249T:p.R417C,	.	.	.	.	.	.	.	.	.	.	.	2331162	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.999	D	0.001	D	1.000	D	1.995	M	1.99	T	-1.008	T	0.142	T	0.927	2.950	15.83	5.84	2.779	4.403	19.135	0.247	0.018377203381	0.0002	.	5.816e-05	0	0	0	0	9.032e-05	0	6.058e-05	4.53e-05	7	154602	rs370614163	5.063e-05	5.062e-05	5.31e-05	4.814e-05	5.577e-05	4.126e-05	3.779e-05	4.439e-05	4.029e-05	0	0	0	2.519e-05	3.753e-05	0	5.577e-05	9.938e-05	3.478e-05	7.231e-05	7.224e-05	0.0001	2.692e-05	0.0001	3.973e-05	3.129e-05	6.803e-05	5.087e-05	4.828e-05	0	0	0	0	0	0	0.0001	0	0	0.024	0.47745	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000971	0.40836	D	0.245608	0.999999	0.81001	D	2.535	0.73915	M	1.99	0.21666	T	-5.31	0.84457	D	0.789	0.78546	-1.0082	0.27479	T	0.142	0.46331	T	10	0.741629	0.74998	D	0.018377	0.40424	T	0.247	0.55478	.	.	0.512942373286	0.50937	0.4276191536691283	0.42678	0.69926860194	0.61024	0.366067111492	0.20266	T	0.183547	0.53593	T	0.0807619	0.62129	D	0.0808863	0.75638	D	0.625006556510925	0.37412	D	0.920408	0.71216	D	0.27068034	0.50139	0.26117897	0.51892	0.27068034	0.50139	0.26117897	0.51891	-3.755	0.20134	T	.	.	0.399	0.59499	A	.;.	.;.	4.986965	0.82651	27.8	0.99913307688857611	0.98238	0.96558	0.69741	D	AEFGBCI	0.694088	0.65320	D	0.67505535200045	0.77999	6.783826	0.646106612199456	0.78321	6.853	0.999999653401408	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.84	5.84	0.93373	4.575000	0.60619	11.910000	0.99563	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.736000	0.35301	0.0:0.0:1.0:0.0	19.135	0.93407	943	0.12886	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2174.98	33	chr17	746794	.	G	A	2174.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=1796;ExcessHet=0.0000;FS=2.060;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.80;ReadPosRankSum=1.14;SOR=0.542	GT:AD:DP:GQ:PL	0/0:122,0:122:99:0,120,1800	20	0	1	0
chr17	747357	747357	C	T	exonic	GEMIN4	.	nonsynonymous SNV	GEMIN4:NM_015721:exon2:c.G686A:p.R229Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.072	B	0.022	B	0.017	N	1.000	N	1.61	L	2.5	T	-1.013	T	0.030	T	0.179	-0.905	0.427	2.37	0.274	0.535	11.467	0.022	0.00520077273776	.	.	8.295e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs776409306	1.847e-05	1.847e-05	1.906e-05	1.788e-05	0.0002	1.265e-05	1.084e-05	1.295e-05	1.106e-05	0	0	0	0	0	0.0002	1.979e-05	1.656e-05	3.478e-05	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.508	0.07545	T	0.553	0.14500	T	0.072	0.23997	B	0.022	0.19653	B	0.016852	0.27871	N	0.437339	1	0.08975	N	2.08	0.57402	M	2.5	0.14408	T	0.19	0.04947	N	0.044	0.01658	-1.0127	0.26070	T	0.030	0.13023	T	10	0.06273785	0.08068	T	0.005201	0.13248	T	0.022	0.04323	.	.	0.361558571881	0.35766	0.09270868343319491	0.09202	0.150705960486	0.16997	0.220036566257	0.01312	T	0.019662	0.15622	T	-0.404092	0.02176	T	-0.636699	0.09913	T	0.049535992749366	0.05417	T	0.609739	0.23084	T	0.018488575	0.00370	0.028924419	0.01176	0.018488575	0.00370	0.028924419	0.01176	-3.569	0.17410	T	.	.	0.082	0.09045	B	.;.;.;.	.;.;.;.	0.864852	0.12376	8.912	0.65094010819872372	0.07676	0.09812	0.15482	N	AEFDBCI	0.061280	0.11703	N	-1.08593234480482	0.06902	0.3190561	-1.09746486977808	0.07750	0.3782153	0.0624746849537814	0.15264	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.6	2.37	0.28337	0.726000	0.25653	0.456000	0.18569	-1.787000	0.00643	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7811:0.0:0.2189	11.467	0.49490	946	0.12043	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1774.98	33	chr17	747357	.	C	T	1774.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.21;DP=960;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=-1.444e+00;SOR=0.666	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr17	997227	997227	C	G	exonic	TIMM22	.	nonsynonymous SNV	TIMM22:NM_013337:exon1:c.C85G:p.L29V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.005	B	0.005	B	0.000	N	0.999	D	1.735	L	0.88	T	-1.038	T	0.069	T	0.283	2.919	15.73	3.33	0.549	1.968	3.997	0.058	0.0452508466253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.757	0.03512	T	0.927	0.02804	T	0.005	0.12996	B	0.005	0.11217	B	0.000062	0.52346	N	0.130756	0.999371	0.46831	D	2.085	0.57729	M	0.88	0.46028	T	-0.51	0.15986	N	0.586	0.60664	-1.0377	0.18016	T	0.069	0.28313	T	10	0.1547006	0.29175	T	0.045251	0.61892	D	0.058	0.16647	0.339	0.32979	0.198526703765	0.19489	0.7466253873482146	0.74608	0.195102303501	0.21846	0.820188999176	0.85056	D	0.04306	0.26383	T	-0.147673	0.28675	T	-0.449898	0.27709	T	0.413177043199539	0.29436	T	.	.	.	0.2119215	0.43529	0.12767766	0.30731	0.2119215	0.43529	0.12767766	0.30730	-4.239	0.27313	T	.	.	0.206	0.43200	B	.	.	2.522007	0.32594	19.09	0.99280035745782425	0.57869	0.87961	0.47687	D	AEFGBHCIJ	0.168613	0.29539	N	-0.416503849400215	0.24890	1.347216	-0.262409581642872	0.29346	1.643448	0.99999999999826	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.42	3.33	0.37245	2.007000	0.40503	2.651000	0.33816	0.537000	0.25018	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.1641:0.5855:0.1591:0.0913	3.997	0.09053	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	870.98	33	chr17	997227	.	C	G	870.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.440e+00;DP=792;ExcessHet=0.0000;FS=2.790;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.47;ReadPosRankSum=-5.600e-01;SOR=0.439	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1194	20	0	1	0
chr17	997239	997239	G	C	exonic	TIMM22	.	nonsynonymous SNV	TIMM22:NM_013337:exon1:c.G97C:p.V33L,	.	.	422	1090	10	0	0	10	0.00456621	.	.	858219	not_provided|Combined_oxidative_phosphorylation_deficiency_43	MedGen:C3661900|MONDO:MONDO:0030017,MedGen:C5394284,OMIM:618851	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.36	T	0.363	B	0.055	B	0.000	D	0.999	D	1.845	L	0.88	T	-1.044	T	0.081	T	0.424	3.857	19.59	5.42	2.529	4.378	18.253	0.098	0.0482639772576	0.0058	0.00239617	0.0042	0.0007	0.0032	0	0.0010	0.0067	0.0059	0.0004	0.0041397	640	154602	rs149879547	0.0064	0.0064	0.0067	0.0062	0.0076	0.0063	0.0063	0.0074	0.0074	0.0015	0.0043	0.0083	0	0.0009	0.0047	0.0076	0.0069	0.0003	0.0043	0.0043	0.0050	0.0037	0.0071	0.0041	0.0039	0.0065	0.0063	0.0013	0.0307	0.0040	0.0046	0	0.0008	0.0034	0.0071	0.0047	0.0004	0.032	0.44694	D	0.125	0.35330	T	0.363	0.33965	B	0.055	0.25995	B	0.000004	0.62929	D	0.105878	0.999001	0.45857	D	1.955	0.52871	M	0.88	0.46028	T	-1.27	0.31981	N	0.39	0.43126	-1.0442	0.16059	T	0.081	0.31884	T	10	0.008468449	0.00192	T	0.048264	0.63296	D	0.098	0.28162	0.273	0.22369	0.341226946553	0.33730	0.7056253133426754	0.70504	0.184690802408	0.20768	0.700864195824	0.67268	T	0.061289	0.31614	T	-0.405002	0.02146	T	-0.349406	0.39272	T	0.0571300150713314	0.06710	T	.	.	.	0.6603359	0.75917	0.6884471	0.81673	0.6603359	0.75918	0.6884471	0.81674	-2.293	0.04517	T	.	.	0.364	0.57492	A	.	.	3.398699	0.47086	22.4	0.99347660807821203	0.60452	0.89248	0.49599	D	AEFGBHCI	0.625538	0.60870	D	0.136871097982309	0.48190	3.034538	0.274444201248571	0.54050	3.571392	0.999999999999438	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.42	5.42	0.78666	4.421000	0.59598	11.605000	0.93504	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.253	0.89947	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	874.98	33	chr17	997239	.	G	C	874.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=817;ExcessHet=0.0000;FS=2.609;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.81;ReadPosRankSum=0.134;SOR=0.980	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1194	20	0	1	0
chr17	1280318	1280318	T	C	exonic	TRARG1	.	nonsynonymous SNV	TRARG1:NM_172367:exon1:c.T317C:p.I106T,	.	.	423	1046	52	1	0	54	0.0251631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.982	D	0.824	P	0.002	U	0.973	D	2.295	M	-2.1	D	0.435	D	0.651	D	0.555	3.303	17.10	5.28	2.022	3.761	14.073	0.588	.	0.0051	0.00459265	0.0058	0.0009	0.0034	0.0001	0.0050	0.0064	0.0067	0.0112	0.0055303	855	154602	rs72816260	0.0064	0.0065	0.0062	0.0067	0.0140	0.0063	0.0063	0.0116	0.0107	0.0012	0.0039	0.0130	7.557e-05	0.0060	0.0140	0.0064	0.0061	0.0111	0.0048	0.0048	0.0049	0.0046	0.0091	0.0045	0.0044	0.0070	0.0062	0.0009	0	0.0065	0.0104	0	0.0051	0.0102	0.0065	0.0062	0.0091	0.008	0.58626	D	0.016	0.60972	D	0.982	0.60036	D	0.824	0.59271	P	0.001998	0.37503	U	0.222837	0.972507	0.38951	D	.	.	.	-2.1	0.86146	D	-3.13	0.63901	D	0.384	0.42541	0.435	0.89617	D	0.651	0.87858	D	10	0.012856871	0.00275	T	.	.	.	0.588	0.83526	.	.	0.791203403945	0.78926	0.5864292845124088	0.58572	0.21833863742	0.24371	0.412896454334	0.26858	T	0.507187	0.82504	D	-0.239099	0.15463	T	-0.105837	0.62940	T	0.0186277200697479	0.00576	T	0.877312	0.59062	D	0.18854955	0.40359	0.23169023	0.48308	0.18854955	0.40359	0.23169023	0.48307	-5.291	0.39854	T	.	.	0.505	0.64812	A	.	.	2.846925	0.37579	20.5	0.99590476354603696	0.73572	0.96637	0.70145	D	AEFDBI	0.407650	0.47964	N	0.552698642946284	0.70248	5.473546	0.525390792262153	0.69703	5.398457	0.996565219762624	0.34833	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.28	5.28	0.74118	2.076000	0.41172	5.066000	0.47133	0.587000	0.30956	0.999000	0.42656	1.000000	0.68203	0.253000	0.23340	0.0:0.0:0.0:1.0	14.073	0.64397	710	0.56735	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2032.98	35	chr17	1280318	.	T	C	2032.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.138e+00;DP=983;ExcessHet=0.0000;FS=2.737;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.25;ReadPosRankSum=1.10;SOR=0.933	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr17	1647905	1647905	C	G	exonic	RILP	.	nonsynonymous SNV	RILP:NM_031430:exon6:c.G874C:p.V292L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.116	B	0.085	B	0.083	N	0.951	N	-1.1	N	1.07	T	-1.050	T	0.031	T	0.11	2.141	13.11	2.11	1.348	0.405	3.570	0.030	0.00987376495113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.0100	0.0014	0.0012	0.0015	0.0012	0.0012	0.0015	0.0015	0.0014	2.24e-05	0.0005	0.0003	1.874e-05	0.0011	0.0015	0.0010	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.14595	T	0.55	0.09425	T	0.116	0.26475	B	0.085	0.29395	B	0.083488	0.20750	N	0.387462	0.95094	0.26488	N	-1.1	0.00987	N	1.07	0.39586	T	-0.54	0.16598	N	0.245	0.27673	-1.0503	0.14313	T	0.031	0.13242	T	10	0.044	0.03309	T	0.009874	0.25720	T	0.030	0.07022	0.317	0.29419	0.257292322809	0.25322	0.11513722298772343	0.11441	0.318795421449	0.34097	0.524286329746	0.42231	T	0.017718	0.19622	T	-0.276491	0.11042	T	-0.634936	0.10042	T	0.142954185605049	0.16526	T	.	.	.	0.15651605	0.35316	0.08314217	0.19031	0.15651605	0.35316	0.08314217	0.19031	-6.89	0.53225	T	.	.	0.376	0.58197	A	.;.	.;.	1.831265	0.23269	15.95	0.95547807555078723	0.27204	0.28308	0.23518	N	AEFGBCI	0.346792	0.44149	N	-0.783625873739068	0.13736	0.6788855	-0.585675622963951	0.19866	1.067815	0.999939707880972	0.46732	0.609539	0.35627	0	0.653731	0.59785	0	0.493711	0.08198	1	0.526803	0.08958	0	.	.	5.6	2.11	0.26299	0.459000	0.21619	1.653000	0.27856	-0.217000	0.08171	0.504000	0.26986	0.986000	0.30841	0.959000	0.51448	0.2311:0.3333:0.3527:0.083	3.570	0.07463	562	0.71143	Rab interacting lysosomal protein, dimerization domain|RH2 domain;Rab interacting lysosomal protein, dimerization domain|RH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	46.98	33	chr17	1647905	.	C	G	46.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.806e+00;DP=868;ExcessHet=0.0000;FS=39.920;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.34;ReadPosRankSum=0.544;SOR=4.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1166	20	0	1	0
chr17	1647906	1647906	C	G	exonic	RILP	.	nonsynonymous SNV	RILP:NM_031430:exon6:c.G873C:p.K291N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.99	D	0.001	D	0.976	D	1.355	L	0.92	T	-0.901	T	0.156	T	0.252	4.089	21.0	-1.27	-0.152	0.198	9.951	0.086	0.0289360152988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.078e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.006	0.70582	D	1.0	0.90584	D	0.99	0.78936	D	0.000543	0.43413	D	0.162786	0.976149	0.39250	D	1.59	0.40313	L	0.92	0.44461	T	-2.56	0.55339	D	0.587	0.60749	-0.9014	0.47846	T	0.156	0.48824	T	10	0.25977266	0.43419	T	0.028936	0.51534	D	0.086	0.25016	0.354	0.35408	0.646241729955	0.64331	0.2498322894567886	0.24897	1.06520644226	0.76608	0.690993785858	0.65850	T	0.083056	0.43985	T	-0.180528	0.23658	T	-0.497093	0.22650	T	0.961237609386444	0.66026	D	.	.	.	0.70810723	0.78503	0.49808714	0.70979	0.70810723	0.78504	0.49808714	0.70979	-9.155	0.68689	D	.	.	0.899	0.82708	P	.;.	.;.	3.385453	0.46848	22.4	0.99751572839584457	0.84305	0.45983	0.27659	N	AEFGBCI	0.353022	0.44558	N	-0.113164898256729	0.36820	2.133435	-0.220986961082395	0.30785	1.736349	0.999917096028196	0.45857	0.609539	0.35627	0	0.653731	0.59785	0	0.493711	0.08198	1	0.526803	0.08958	0	.	.	5.6	-1.27	0.08863	0.076000	0.14570	0.031000	0.13732	-0.202000	0.08738	0.506000	0.27002	0.847000	0.27355	0.955000	0.50612	0.0:0.592:0.0:0.408	9.951	0.40810	562	0.71143	Rab interacting lysosomal protein, dimerization domain|RH2 domain;Rab interacting lysosomal protein, dimerization domain|RH2 domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	52.98	59	chr17	1647906	.	C	G	52.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.633e+00;DP=959;ExcessHet=0.0000;FS=52.483;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.43;ReadPosRankSum=1.24;SOR=5.131	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1166	20	0	1	0
chr17	1726031	1726031	A	G	exonic	WDR81	.	nonsynonymous SNV	WDR81:NM_001163809:exon1:c.A1072G:p.S358G,	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, Autosomal recessive	.	0	1519	2	1	0	4	0.00131492	.	.	1018243	Cerebellar_ataxia,_intellectual_disability,_and_dysequilibrium_syndrome_2	MONDO:MONDO:0012430,MedGen:C2750234,OMIM:610185,Orphanet:1766	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	D	.	.	-2.43	D	0.744	D	0.793	D	0.857	4.649	25.5	5.79	2.201	7.240	16.119	0.900	0.723109568991	.	.	0.0005	0	0	0	0	0.0006	0.005	0.0004	0.0001035	16	154602	rs780969097	0.0002	0.0002	0.0002	0.0002	0.0042	0.0002	0.0002	0.0029	0.0025	3.178e-05	0.0001	0.0027	0	0	0.0042	0.0001	0.0005	0.0001	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0002	0.0002	2.405e-05	0	0.0005	0.0029	0	0	0.0034	0.0001	0.0014	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999992	0.81001	D	3.09	0.87444	M	-2.43	0.88689	D	-3.42	0.67241	D	0.762	0.76019	0.744	0.93724	D	0.793	0.92987	D	6	0.5618299	0.64831	D	0.72311	0.97763	D	0.900	0.97210	.	.	0.854557960048	0.85316	0.8819782548204886	0.88165	1.02735196432	0.75316	0.673586845398	0.63349	T	0.718474	0.92025	D	0.202356	0.74113	D	0.350454	0.90334	D	0.257165381797425	0.23190	T	0.947205	0.79675	D	0.6306216	0.74331	0.7431053	0.84815	0.6306216	0.74333	0.7431053	0.84816	-7.438	0.57172	T	.	.	0.177	0.38587	B	.	.	4.363512	0.67123	25.1	0.99683470767945648	0.79440	0.99194	0.92619	D	AEFDBI	0.944094	0.95075	D	0.459216035549547	0.64729	4.733965	0.547924908352809	0.71251	5.626741	0.999999999999999	0.74766	0.695654	0.57023	0	0.685571	0.66316	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	5.79	5.79	0.91751	7.227000	0.77548	11.281000	0.91737	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	16.119	0.81139	661	0.61838	BEACH domain|BEACH domain|BEACH domain|BEACH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1082.98	33	chr17	1726031	.	A	G	1082.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.908e+00;DP=849;ExcessHet=0.0000;FS=0.726;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.12;ReadPosRankSum=0.609;SOR=0.791	GT:AD:DP:GQ:PL	0/1:60,47:107:99:1097,0,1639	20	0	1	0
chr17	1727213	1727213	C	T	exonic	WDR81	.	nonsynonymous SNV	WDR81:NM_001163809:exon1:c.C2254T:p.P752S,	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, Autosomal recessive	.	0	1511	9	2	0	13	0.00428336	.	.	727020	Cerebellar_ataxia,_intellectual_disability,_and_dysequilibrium_syndrome_2|not_provided	MONDO:MONDO:0012430,MedGen:C2750234,OMIM:610185,Orphanet:1766|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.67	T	.	.	.	.	.	.	1.000	N	.	.	0.8	T	-1.034	T	0.076	T	0.215	-1.213	0.066	4.61	1.311	1.125	10.161	0.027	0.0124618513485	.	0.000998403	0.0019	0	0	0	0	0.0014	0.0056	0.0031	0.0004916	76	154602	rs200781463	0.0015	0.0014	0.0014	0.0015	0.0054	0.0014	0.0014	0.0039	0.0034	0.0002	0.0010	0.0035	0	0.0008	0.0054	0.0015	0.0014	0.0021	0.0012	0.0012	0.0010	0.0013	0.0029	0.0010	0.0010	0.0018	0.0014	0.0002	0	0.0010	0.0043	0	0.0008	0.0034	0.0016	0.0019	0.0029	0.403	0.10378	T	0.227	0.25362	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.695	0.17993	N	0.8	0.48769	T	-0.34	0.12661	N	0.075	0.04913	-1.0340	0.19173	T	0.076	0.30492	T	6	0.005992919	0.00134	T	0.012462	0.31052	T	0.027	0.05988	.	.	0.446010312102	0.44222	0.1618985332002978	0.16110	0.462113211876	0.45742	0.283152282238	0.07936	T	0.012492	0.10973	T	-0.532944	0.00369	T	-0.54479	0.17829	T	0.0131296711042523	0.00231	T	0.672833	0.28129	T	0.061643362	0.12789	0.0661384	0.13507	0.061643362	0.12789	0.0661384	0.13506	-5.004	0.36883	T	.	.	0.104	0.18828	B	.	.	1.260675	0.16584	12.63	0.70272724247983298	0.09241	0.20108	0.20918	N	AEFBI	0.158121	0.28373	N	-0.346179257426131	0.27413	1.503801	-0.389701120661279	0.25303	1.390671	0.972692414297421	0.29392	0.631515	0.41029	0	0.697927	0.68747	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	5.62	4.61	0.56724	1.170000	0.31493	1.801000	0.28882	0.599000	0.40250	0.001000	0.13787	0.041000	0.21590	0.317000	0.24900	0.1451:0.4879:0.367:0.0	10.161	0.42024	665	0.61472	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	725.98	33	chr17	1727213	.	C	T	725.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.248;DP=1073;ExcessHet=0.0000;FS=2.009;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.23;ReadPosRankSum=0.239;SOR=0.418	GT:AD:DP:GQ:PL	0/1:41,30:71:99:740,0,1021	20	0	1	0
chr17	1734198	1734198	G	A	exonic	WDR81	.	nonsynonymous SNV	WDR81:NM_001163673:exon7:c.G1552A:p.V518I	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, Autosomal recessive	.	0	1468	53	1	0	55	0.0183885	.	.	656413	Inborn_genetic_diseases|not_provided|WDR81-related_disorder	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.008	B	0.002	B	0.004	N	0.936	D	0.075	N	5.03	T	-0.779	T	0.003	T	0.22	1.326	10.35	2.44	0.299	0.087	7.493	0.046	.	0.0018	0.00179712	0.0028	0.0005	0.0017	0	0	0.0031	0.0112	0.0062	0.002238	346	154602	rs143022530	0.0023	0.0023	0.0022	0.0024	0.0182	0.0023	0.0022	0.0153	0.0143	0.0007	0.0020	0.0093	2.531e-05	0.0001	0.0182	0.0020	0.0032	0.0055	0.0018	0.0018	0.0018	0.0018	0.0037	0.0016	0.0015	0.0024	0.0020	0.0005	0	0.0025	0.0084	0	0	0.0136	0.0023	0.0043	0.0037	0.793	0.05091	T	0.428	0.14075	T	.	.	.	.	.	.	0.004185	0.34013	N	0.297223	0.936187	0.37147	D	0.15	0.08895	N	5.03	0.01287	T	0.47	0.03463	N	0.132	0.14622	-0.7788	0.56370	T	0.003	0.00929	T	9	0.00987193	0.00221	T	.	.	.	0.046	0.12618	.	.	0.0551355673512	0.04727	0.04702116963289699	0.04645	0.322510031875	0.34437	0.265241235495	0.05531	T	0.005783	0.18084	T	-0.60948	0.00128	T	-0.647162	0.09154	T	0.00800503247498098	0.00095	T	0.825517	0.48813	T	0.027648179	0.01986	0.024120312	0.00428	0.023187935	0.01037	0.023196675	0.00334	-4.661	0.33956	T	.	.	0.069	0.03736	B	.;.;.;.;.	.;.;.;.;.	0.699930	0.10684	7.382	0.96945392376489525	0.31715	0.58370	0.30624	D	AEFGBHCI	0.275343	0.39032	N	-0.501868932992382	0.22019	1.17284	-0.319444422381407	0.27471	1.524563	0.960580613726729	0.28498	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.592323	0.36904	0	.	.	5.48	2.44	0.28875	0.023000	0.13424	-0.272000	0.10340	-0.123000	0.13640	0.833000	0.30177	0.012000	0.20211	0.993000	0.69303	0.4256:0.0:0.5744:0.0	7.493	0.26642	683	0.59664	.;.;WD40-repeat-containing domain;.;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1163.98	39	chr17	1734198	.	G	A	1163.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.817;DP=952;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=-7.600e-02;SOR=0.631	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	20	0	1	0
chr17	1769918	1769918	G	A	exonic	SERPINF1	.	nonsynonymous SNV	SERPINF1:NM_001329903:exon3:c.G151A:p.V51M	Osteogenesis imperfecta, type VI	.	.	.	.	.	.	.	.	.	.	740627	not_provided|Osteogenesis_imperfecta|not_specified|Osteogenesis_imperfecta_type_6	MedGen:C3661900|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666|MedGen:CN169374|MONDO:MONDO:0013515,MedGen:C3279564,OMIM:613982,Orphanet:666	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.18	T	0.951	P	0.257	B	0.091	N	1.000	D	0.695	N	1.28	T	-1.143	T	0.027	T	0.62	3.157	16.56	5.67	2.690	0.890	9.678	0.139	.	7.7e-05	0.00559105	0.0014	0.0002	0	0.0184	0	1.499e-05	0	0.0004	0.0014618	226	154602	rs150899084	0.0005	0.0005	0.0005	0.0005	0.0117	0.0005	0.0004	0.0108	0.0105	0.0002	0.0001	0	0.0117	0	0.0003	3.237e-05	0.0023	0.0006	0.0007	0.0007	0.0006	0.0008	0.0175	0.0006	0.0006	0.0146	0.0135	0.0001	0	6.537e-05	0	0.0175	0	0	1.47e-05	0.0009	0.0019	0.284	0.15303	T	0.044	0.69154	D	0.951	0.53992	P	0.257	0.39298	B	0.090705	0.20362	N	0.544252	1	0.81001	D	2.665	0.77964	M	1.28	0.87512	T	-0.16	0.09460	N	0.175	0.18784	-1.1428	0.01257	T	0.027	0.11663	T	10	0.009355158	0.00211	T	.	.	.	0.139	0.37390	.	.	0.890675266327	0.88959	0.5842444823527361	0.58353	0.0922780189812	0.10416	0.540720820427	0.44547	T	0.049771	0.28402	T	-0.206713	0.19845	T	-0.0541107	0.66740	D	0.0334724921535293	0.02549	T	0.916508	0.70155	D	0.07177923	0.15916	0.05260933	0.08700	0.07553493	0.17022	0.046458937	0.06480	-5.303	0.39973	T	.	.	0.130	0.36772	B	.;.;.;.;.	.;.;.;.;.	3.892312	0.56638	23.8	0.99699523928408185	0.80522	0.57695	0.30444	D	ALL	0.693195	0.65260	D	0.162472537462544	0.49403	3.141191	0.251476668093129	0.52733	3.44622	0.999999999621914	0.74766	0.730579	0.87903	0	0.681609	0.65952	0	0.749866	0.98131	0	0.542086	0.14980	0	.	.	5.67	5.67	0.87673	0.936000	0.28536	6.582000	0.56000	0.668000	0.69082	0.649000	0.28163	1.000000	0.68203	0.970000	0.54328	0.1909:0.0:0.8091:0.0	9.678	0.39219	636	0.64483	Pigment epithelium derived factor;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1379.98	34	chr17	1769918	.	G	A	1379.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=891;ExcessHet=0.0000;FS=3.348;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=0.016;SOR=0.448	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1276	20	0	1	0
chr17	1784360	1784360	T	A	exonic	SMYD4	.	nonsynonymous SNV	SMYD4:NM_052928:exon8:c.A1986T:p.R662S,	.	.	432	1085	5	0	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.0	B	0.0	B	0.635	N	1.000	N	0.345	N	-0.02	T	-1.014	T	0.101	T	0.217	-0.118	3.424	-3.91	-0.577	-0.234	7.635	0.090	0.0171131945427	.	.	0.0003	0	0.0002	0	0	0.0002	0.0011	0.0007	0.000207	32	154602	rs761931183	0.0001	0.0001	0.0001	0.0002	0.0012	0.0001	0.0001	0.0007	0.0006	0	4.472e-05	0	0	0	0.0012	0.0001	0.0001	0.0008	7.22e-05	7.217e-05	6.423e-05	8.053e-05	0.0006	3.967e-05	3.124e-05	0.0002	8.992e-05	0	0	0	0	0.0002	0	0	0.0001	0	0.0006	0.656	0.04757	T	0.702	0.05685	T	0.0	0.02946	B	0.0	0.01387	B	0.634647	0.05833	N	1.155610	1	0.08975	N	0	0.06538	N	-0.02	0.62918	T	-0.15	0.09297	N	0.278	0.31478	-1.0139	0.25688	T	0.101	0.37316	T	10	0.018406987	0.00400	T	0.017113	0.38673	T	0.090	0.26093	0.455	0.51938	0.238096912614	0.23440	0.22762712985228942	0.22677	0.0854028739893	0.09651	0.224815115333	0.01606	T	0.003008	0.02412	T	-0.456804	0.01029	T	-0.518098	0.20487	T	0.00585110884896046	0.00064	T	0.574842	0.20648	T	0.0657858	0.14094	0.037299655	0.03355	0.0657858	0.14094	0.037299655	0.03355	-3.43	0.15463	T	.	.	0.112	0.21840	B	.;.	.;.	1.502415	0.19314	14.20	0.7195271551881991	0.09805	0.01927	0.05881	N	AEFGBHCI	0.073192	0.14632	N	-1.40305196387826	0.02612	0.1155807	-1.40035342270228	0.03249	0.1511688	0.999996943122186	0.74766	0.712529	0.81865	0	0.653731	0.59785	0	0.635938	0.45252	0	0.692231	0.68500	0	.	.	5.96	-3.91	0.03892	-0.209000	0.09362	-0.649000	0.08038	-0.147000	0.12262	0.000000	0.06391	0.000000	0.08366	0.389000	0.26536	0.0:0.2958:0.474:0.2302	7.635	0.27427	614	0.66605	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1211.98	33	chr17	1784360	.	T	A	1211.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.548e+00;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.00;ReadPosRankSum=-4.960e-01;SOR=0.671	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1304	20	0	1	0
chr17	1786906	1786906	G	C	exonic	SMYD4	.	nonsynonymous SNV	SMYD4:NM_052928:exon7:c.C1788G:p.D596E,	.	.	424	1097	0	1	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.003	B	0.004	B	0.000	D	0.934	N	1.655	L	-1.29	T	-0.885	T	0.295	T	0.097	0.156	4.841	2.82	0.390	1.178	4.696	0.203	0.0109601081874	.	.	1.651e-05	0	0	0	0	3.002e-05	0	0	1.29e-05	2	154602	rs746019087	1.026e-05	1.026e-05	6.806e-06	1.375e-05	0.0003	6.16e-06	4.89e-06	6.109e-05	2.528e-05	0	0	0	0	0	0.0003	1.079e-05	1.656e-05	0	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.004	0.10090	B	0.000152	0.49130	D	0.213339	0.933882	0.26984	N	1.585	0.39878	L	-1.29	0.79475	T	-0.3	0.11913	N	0.143	0.14338	-0.8850	0.49357	T	0.295	0.66697	T	10	0.20033246	0.36076	T	0.01096	0.28083	T	0.203	0.48915	0.341	0.33302	0.793109212194	0.79118	0.3809480712743575	0.38009	0.0728183001178	0.08157	0.404150485992	0.25646	T	0.003175	0.02576	T	-0.167355	0.25636	T	-0.414524	0.31706	T	0.0525913871824741	0.05949	T	0.645735	0.25721	T	0.024497436	0.01287	0.028638419	0.01119	0.024497436	0.01287	0.028638419	0.01119	-2.26	0.04341	T	.	.	0.168	0.39029	B	.;.	.;.	1.650798	0.21061	15.03	0.61781651251085146	0.06795	0.73313	0.35863	D	AEFBI	0.102966	0.20641	N	-0.337134477748815	0.27747	1.524896	-0.18510607971015	0.32082	1.821814	0.993042843145193	0.33063	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.692231	0.68500	0	.	.	5.93	2.82	0.32061	1.534000	0.35656	4.588000	0.43946	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0712:0.1242:0.4513:0.3533	4.696	0.12184	632	0.64850	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1596.98	34	chr17	1786906	.	G	C	1596.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.612;DP=866;ExcessHet=0.0000;FS=1.975;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.86;ReadPosRankSum=-7.660e-01;SOR=0.638	GT:AD:DP:GQ:PL	0/1:92,70:162:99:1611,0,2195	20	0	1	0
chr17	2039805	2039805	C	G	exonic	DPH1	.	nonsynonymous SNV	DPH1:NM_001346576:exon6:c.C326G:p.P109R	Developmental delay with short stature, dysmorphic features, and sparse hair, Autosomal recessive	.	429	1068	25	0	0	25	0.0115687	.	.	715292	DPH1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	3.365	M	0.85	T	-0.101	T	0.315	T	0.907	4.565	24.7	4.66	2.425	5.101	16.763	0.508	0.0930625867412	0.0037	0.00299521	0.0051	0.0008	0.0020	0	0.0020	0.0070	0.0089	0.0060	0.0048318	747	154602	rs80150196	0.0052	0.0052	0.0051	0.0054	0.0071	0.0051	0.0051	0.0062	0.0061	0.0008	0.0023	0.0010	0	0.0040	0.0071	0.0057	0.0047	0.0067	0.0037	0.0037	0.0038	0.0035	0.0064	0.0034	0.0033	0.0049	0.0047	0.0008	0	0.0056	0.0014	0	0.0034	0.0102	0.0053	0.0033	0.0064	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.054132	1	0.81001	D	3.68	0.94442	H	0.85	0.47130	T	-8.67	0.97580	D	0.946	0.95725	-0.1012	0.80071	T	0.315	0.68451	T	10	0.07061556	0.10296	T	0.093063	0.76004	D	0.508	0.78848	.	.	0.702741401759	0.70016	0.8725920003565045	0.87225	0.59895004759	0.55043	0.538162469864	0.44186	T	0.633751	0.88682	D	-0.0244674	0.48214	T	0.197205	0.82975	D	0.108463703120588	0.13263	T	0.992201	0.97531	D	0.85482275	0.87694	0.8572672	0.91993	0.8915819	0.90644	0.8382441	0.90723	-10.153	0.74823	D	.	.	0.223	0.45433	B	.;.	.;.	5.088951	0.84970	28.5	0.99795850266812469	0.88106	0.90517	0.51758	D	AEFBCI	0.673786	0.63972	D	0.779499025026802	0.84809	8.392263	0.686683549755314	0.81367	7.510028	0.999999999999405	0.74766	0.732398	0.92422	0	0.697927	0.68747	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.66	4.66	0.57857	6.606000	0.74036	7.661000	0.64234	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.869000	0.41347	0.0:1.0:0.0:0.0	16.763	0.85377	340	0.86005	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	5540.08	37	chr17	2039805	.	C	G	5540.08	.	AC=2;AF=0.048;AN=42;DP=916;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.95;SOR=0.944	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1468	20	1	0	0
chr17	2172704	2172704	A	G	exonic	SMG6	.	nonsynonymous SNV	SMG6:NM_001256828:exon5:c.T587C:p.L196P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	1.0	D	0.034	N	1.000	D	1.245	L	2.25	T	-1.118	T	0.089	T	0.972	3.435	17.62	6.02	2.309	7.990	15.114	0.482	0.0592109156591	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1444361855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.72154	D	0.033	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	0.034131	0.24809	N	0.309611	1	0.81001	D	2.515	0.73286	M	2.25	0.17761	T	-3.1	0.73579	D	0.895	0.93959	-1.1184	0.02435	T	0.089	0.34243	T	10	0.78461564	0.78140	D	0.059211	0.67586	D	0.482	0.77206	0.552	0.66856	0.657437319468	0.65457	0.8762980198381667	0.87596	0.884013487676	0.69889	0.738139510155	0.72698	T	0.210281	0.57073	T	0.252104	0.78797	D	0.124354	0.78521	D	0.98939323425293	0.79633	D	0.80242	0.67118	T	0.6753582	0.76720	0.49724254	0.70928	0.6753582	0.76721	0.49724254	0.70929	-9.671	0.71919	D	.	.	0.995	0.95479	P	.;.;.;.;.	.;.;.;.;.	4.903630	0.80616	27.4	0.99796572582646481	0.88194	0.94971	0.62970	D	ALL	0.959013	0.97911	D	0.719274298453759	0.80895	7.39705	0.753400806973324	0.86409	8.880552	1.0	0.98316	0.730579	0.87903	0	0.724815	0.89359	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	6.02	6.02	0.97559	7.987000	0.87812	11.283000	0.91806	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.114	0.72054	324	0.86790	DNA/RNA-binding domain, Est1-type;.;.;.;DNA/RNA-binding domain, Est1-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1261.98	33	chr17	2172704	.	A	G	1261.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.730e+00;DP=783;ExcessHet=0.0000;FS=2.912;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=-7.030e-01;SOR=0.423	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1316	20	0	1	0
chr17	2324278	2324278	G	A	exonic	TSR1	.	nonsynonymous SNV	TSR1:NM_018128:exon15:c.C2333T:p.T778I,	.	.	420	1087	14	1	0	16	0.00730594	.	.	3210534	TSR1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.27	T	0.781	P	0.334	B	0.000	D	1.000	D	0	N	2.71	T	-0.972	T	0.022	T	0.72	4.359	23.0	4.92	2.277	9.706	17.098	0.328	0.015573889284	.	0.00259585	0.0023	9.775e-05	0.0017	0	0.0012	0.0026	0.0013	0.0060	0.0020957	324	154602	rs141644586	0.0017	0.0018	0.0016	0.0018	0.0054	0.0017	0.0016	0.0050	0.0048	0.0003	0.0014	0.0039	0	0.0012	0.0047	0.0015	0.0024	0.0054	0.0017	0.0017	0.0016	0.0017	0.0075	0.0015	0.0014	0.0055	0.0049	0.0003	0	0.0022	0.0032	0.0002	0.0010	0.0102	0.0020	0.0033	0.0075	0.04	0.42199	D	0.036	0.52060	D	0.781	0.44300	P	0.334	0.42203	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.545	0.74286	M	2.71	0.12055	T	-4.67	0.79571	D	0.674	0.68169	-0.9718	0.36819	T	0.022	0.09513	T	10	0.012049884	0.00261	T	0.015574	0.36375	T	0.328	0.65026	.	.	0.517104213562	0.51352	0.7157283914635781	0.71515	0.521668995998	0.49930	0.705295443535	0.67911	T	0.168169	0.51508	T	-0.28306	0.10346	T	-0.178557	0.56657	T	0.0806617079686739	0.10072	T	0.957504	0.83996	D	0.66671205	0.76257	0.52545553	0.72583	0.66671205	0.76258	0.52545553	0.72583	-9.113	0.68421	D	.	.	0.317	0.54279	B	.	.	3.791724	0.54583	23.5	0.99897748403918818	0.97048	0.97204	0.73304	D	AEFDBCI	0.898383	0.84161	D	0.305920468281092	0.56453	3.80992	0.43935198592711	0.64038	4.649846	0.999999998703384	0.74766	0.645754	0.44609	0	0.702456	0.74545	0	0.702456	0.68683	0	0.723	0.93126	0	.	.	4.92	4.92	0.64147	9.842000	0.98352	8.643000	0.77902	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.098	0.86515	648	0.63242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	5026.68	34	chr17	2324278	.	G	A	5026.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-5.760e-01;DP=889;ExcessHet=0.3300;FS=0.974;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=19.79;ReadPosRankSum=-2.700e-02;SOR=0.775	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1230	18	0	3	0
chr17	2372977	2372977	C	T	exonic	SGSM2	.	nonsynonymous SNV	SGSM2:NM_001098509:exon15:c.C1678T:p.R560W	.	.	425	1093	4	0	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.935	M	3.47	T	-0.994	T	0.071	T	0.908	4.017	20.6	2.29	0.751	0.272	13.944	0.368	0.0994580570253	7.7e-05	0.000199681	0.0002	0	0.0010	0	0	0.0002	0	0.0002	5.82e-05	9	154602	rs138905892	8.218e-05	8.277e-05	7.092e-05	9.368e-05	0.0005	6.983e-05	6.525e-05	0.0002	0.0002	0	0.0002	3.923e-05	2.649e-05	0	0.0005	6.135e-05	0.0001	0.0003	7.897e-05	7.877e-05	7.719e-05	8.082e-05	0.0002	4.503e-05	3.517e-05	4.767e-05	3.34e-05	4.825e-05	0	0	0	0.0002	0	0	0.0001	0.0005	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.125	0.87999	M	3.47	0.05188	T	-7.17	0.94249	D	0.881	0.91276	-0.9940	0.31565	T	0.071	0.28969	T	10	0.6728891	0.70819	D	0.099458	0.77111	D	0.368	0.68757	.	.	0.400899426204	0.39700	0.7505246282144314	0.74999	0.609113261058	0.55654	0.665121197701	0.62141	T	0.365509	0.73091	T	-0.0109467	0.50134	T	0.0399864	0.72926	D	0.888226270675659	0.53880	D	0.984202	0.99183	D	0.80187476	0.84026	0.6858702	0.81528	0.80187476	0.84027	0.6858702	0.81529	-10.716	0.78365	D	.	.	0.341	0.56005	A	.;.;.	.;.;.	4.034595	0.59680	24.1	0.9992185510474656	0.98787	0.26969	0.23145	N	AEFDBI	0.398557	0.47419	N	0.328165321857272	0.57598	3.92779	0.187494202081701	0.49160	3.122671	0.367545426097667	0.19838	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.8	2.29	0.27658	0.437000	0.21261	0.941000	0.22852	0.599000	0.40250	0.223000	0.24568	0.878000	0.27671	0.768000	0.36443	0.5173:0.4827:0.0:0.0	13.944	0.63584	675	0.60470	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2092.98	34	chr17	2372977	.	C	T	2092.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.947;DP=956;ExcessHet=0.0000;FS=3.377;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.19;ReadPosRankSum=0.359;SOR=0.965	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr17	2375781	2375781	T	G	exonic	SGSM2	.	nonsynonymous SNV	SGSM2:NM_001098509:exon17:c.T2255G:p.L752W	.	.	413	1104	5	0	0	5	0.00225938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.927	P	0.478	P	0.315	N	1.000	N	1.525	L	2.67	T	-1.072	T	0.037	T	0.267	0.467	6.536	3.09	0.854	2.021	8.468	0.041	0.041884060767	.	.	7.955e-05	0	8.721e-05	0	0	6.259e-05	0.0012	0.0003	5.82e-05	9	154602	rs754623052	6.561e-05	6.635e-05	5.671e-05	7.468e-05	0.0005	5.47e-05	5.077e-05	0.0003	0.0003	0	0.0002	4.119e-05	0	0	0.0002	3.464e-05	0.0001	0.0005	3.288e-05	3.284e-05	1.286e-05	5.383e-05	0.0002	1.262e-05	7.98e-06	1.171e-05	6.25e-06	0	0	6.543e-05	0	0	0	0	4.413e-05	0	0.0002	0.126	0.27194	T	0.129	0.34837	T	0.425	0.51527	B	0.208	0.47030	B	0.315214	0.14365	N	0.718934	1	0.08975	N	0.69	0.16971	N	2.67	0.12575	T	-0.91	0.35399	N	0.247	0.27910	-1.0717	0.09043	T	0.037	0.15856	T	10	0.066251606	0.09059	T	0.041884	0.60169	D	0.041	0.10877	.	.	0.263612267334	0.25957	0.2644224939051467	0.26355	0.405105065229	0.41401	0.504734635353	0.39488	T	0.02215	0.17126	T	-0.445921	0.01193	T	-0.564053	0.15999	T	0.05700786830977	0.06690	T	0.664234	0.27311	T	0.02419876	0.01228	0.061216246	0.11783	0.02419876	0.01228	0.061216246	0.11782	-5.718	0.43853	T	.	.	0.061	0.01109	B	.;.;.	.;.;.	1.582367	0.20247	14.66	0.60000604052455109	0.06358	0.43475	0.27106	N	AEFDBI	.	.	.	-0.584471066829596	0.19415	1.01598	-0.670542018642658	0.17698	0.9422653	0.999633237323462	0.41205	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.29	3.09	0.34677	0.306000	0.19030	0.821000	0.21853	0.651000	0.53179	0.009000	0.18154	0.001000	0.17328	0.007000	0.07825	0.0:0.1598:0.0:0.8402	8.468	0.32130	675	0.60470	.;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	882.98	35	chr17	2375781	.	T	G	882.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.324;DP=754;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.48;ReadPosRankSum=-5.500e-01;SOR=0.673	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1147	20	0	1	0
chr17	2695086	2695086	C	T	exonic	CLUH	.	nonsynonymous SNV	CLUH:NM_001366661:exon16:c.G2623A:p.G875S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.076	B	0.019	B	0.000	D	0.978	D	-0.06	N	-1.26	T	-0.770	T	0.234	T	0.391	1.678	11.57	5.64	2.663	7.485	18.699	0.331	0.0273261013615	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1445078084	1.096e-05	1.094e-05	9.541e-06	1.24e-05	2.255e-05	6.49e-06	5.25e-06	6.53e-06	5.03e-06	0	2.255e-05	3.835e-05	0	0	0	1.17e-05	0	1.161e-05	1.971e-05	1.97e-05	2.57e-05	1.345e-05	2.941e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	9.413e-05	0	2.941e-05	0	0	0.879	0.02550	T	0.883	0.03196	T	0.027	0.19556	B	0.019	0.18783	B	0.000001	0.84330	D	0.055041	0.977672	0.39389	D	0.39	0.12200	N	-1.26	0.79176	T	0.52	0.02853	N	0.498	0.55106	-0.7704	0.56836	T	0.234	0.60099	T	10	0.2330744	0.40317	T	0.027326	0.50151	D	0.331	0.65325	0.266	0.21261	0.336933722576	0.33308	0.3718391103603266	0.37097	0.316282306173	0.33892	0.774609088898	0.78114	T	0.012099	0.10690	T	-0.0324498	0.47061	T	-0.201523	0.54503	T	0.26691888768251	0.23615	T	0.962804	0.86152	D	0.10642468	0.25164	0.17651509	0.40191	0.10642468	0.25164	0.17651509	0.40190	-6.212	0.48020	T	.	.	0.145	0.51549	B	.;.;.	.;.;.	4.312302	0.65933	24.9	0.70133537730446815	0.09196	0.98181	0.80306	D	AEFDBCI	0.947731	0.95861	D	-0.135982107693151	0.35833	2.063301	0.0951813420282528	0.44305	2.714899	0.999999970957066	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	7.566000	0.81367	7.660000	0.64180	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.615000	0.31768	0.0:1.0:0.0:0.0	18.699	0.91577	911	0.21964	CLU central domain|CLU central domain;CLU central domain|CLU central domain;CLU central domain|CLU central domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	966.98	33	chr17	2695086	.	C	T	966.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.120e-01;DP=772;ExcessHet=0.0000;FS=1.033;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.96;ReadPosRankSum=-6.500e-02;SOR=0.527	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr17	3062847	3062847	G	A	exonic	OR1D5	.	nonsynonymous SNV	OR1D5:NM_014566:exon1:c.C761T:p.T254M,	.	.	424	1094	3	1	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0118732806835	.	.	.	.	.	.	.	.	.	.	0.0003458	9	26028	rs2258495	9.238e-05	0.0002	8.713e-05	9.767e-05	0.0008	7.96e-05	7.433e-05	0.0006	0.0006	5.975e-05	8.946e-05	0	0.0003	0	0.0002	3.957e-05	0.0001	0.0008	0.0001	0.0002	0.0001	0.0001	0.0012	7.086e-05	5.744e-05	0.0005	0.0004	4.811e-05	0	0	0	0.0004	0	0	0.0001	0	0.0012	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	0.999999	0.08975	N	3.455	0.92281	M	-0.63	0.72011	T	.	.	.	0.514	0.54496	.	.	.	.	.	.	.	0.56810117	0.65165	D	0.011873	0.29919	T	.	.	.	.	0.855324636859	0.85392	0.04796168997363756	0.04739	2.62205694876	0.98273	0.253825187683	0.04182	T	0.012907	0.11259	T	-0.066951	0.41814	T	-0.333947	0.41029	T	.	.	.	0.577942	0.20808	T	0.06147208	0.12732	0.21113539	0.45529	0.06147208	0.12731	0.21113539	0.45528	-8.667	0.65530	D	.	.	0.097	0.15609	B	.	.	4.127501	0.61742	24.4	0.9979165206545445	0.87750	0.07938	0.13923	N	AEFGI	0.063302	0.12225	N	.	.	.	.	.	.	7.16935459880942E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.45	3.45	0.38602	2.841000	0.47923	5.627000	0.49103	0.573000	0.29008	0.138000	0.23473	1.000000	0.68203	0.381000	0.26357	0.0:0.0:1.0:0.0	13.955	0.63653	870	0.31527	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	79.98	280	chr17	3062847	.	G	A	79.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=10.82;DP=4565;ExcessHet=0.0000;FS=42.721;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=51.02;MQRankSum=-9.823e+00;QD=0.15;ReadPosRankSum=-8.520e-01;SOR=5.995	GT:AD:DP:GQ:PL	0/0:223,0:223:99:0,120,1800	20	0	1	0
chr17	3092802	3092802	G	T	exonic	OR1D2	.	nonsynonymous SNV	OR1D2:NM_002548:exon1:c.C195A:p.N65K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.018	B	0.015	B	.	.	0.964	N	3.275	M	2.64	T	-1.003	T	0.055	T	0.369	1.808	12.00	-1.69	-0.674	0.213	7.699	0.173	0.00221577618055	.	.	0.0003	0	0.0002	0	0	0	0	0.0021	0.0002393	37	154602	rs766470657	0.0001	0.0001	7.487e-05	0.0002	0.0023	0.0001	0.0001	0.0021	0.0020	0	0	0	0	0	0	8.993e-07	8.279e-05	0.0023	3.946e-05	4.597e-05	2.571e-05	5.386e-05	0.0012	1.717e-05	1.13e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.011	0.55530	D	0.02	0.58613	D	0.018	0.17786	B	0.015	0.17295	B	.	.	.	.	0.964038	0.25999	N	2.6	0.76081	M	2.64	0.12780	T	-4.37	0.77061	D	0.537	0.56489	-1.0031	0.29021	T	0.055	0.23224	T	9	0.028298855	0.00964	T	0.002216	0.04178	T	0.173	0.43840	0.729	0.86286	0.325533332567	0.32158	0.6871740137935639	0.68657	0.099863086041	0.11279	0.284465551376	0.08123	T	0.132132	0.46203	T	-0.50971	0.00504	T	-0.510487	0.21266	T	0.159478160465985	0.17833	T	0.139986	0.01122	T	0.5448814	0.69670	0.5657515	0.74865	0.5448814	0.69671	0.5657515	0.74866	-9.233	0.69185	D	.	.	0.588	0.68400	P	.;.;.	.;.;.	1.732579	0.22052	15.46	0.98430703792289365	0.41397	0.85932	0.45125	D	AEFBI	0.240844	0.36256	N	-0.50784189454199	0.21825	1.161124	-0.544114575157962	0.20961	1.131778	2.72222216780305E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567339	0.31927	0	.	.	3.0	-1.69	0.07747	0.027000	0.13512	-2.184000	0.04090	-1.805000	0.00619	0.053000	0.21524	0.000000	0.08366	0.910000	0.44547	0.3711:0.0:0.6289:0.0	7.699	0.27774	793	0.45818	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	2714.33	47	chr17	3092802	.	G	T	2714.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.916;DP=1516;ExcessHet=0.0000;FS=2.200;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=59.65;MQRankSum=-1.427e+00;QD=11.36;ReadPosRankSum=-4.170e-01;SOR=0.556	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1379	19	0	1	1
chr17	3127453	3127453	G	T	exonic	OR1G1	.	nonsynonymous SNV	OR1G1:NM_003555:exon1:c.C99A:p.F33L,	.	.	422	1092	8	0	0	8	0.00364964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.0	B	0.001	B	.	.	1.000	N	-0.65	N	7.46	T	-0.968	T	0.001	T	0.062	-0.824	0.614	2.33	0.469	-0.199	5.215	0.027	0.000643907735344	0.0015	0.000599042	0.0015	9.612e-05	0.0006	0	0	0.0026	0.0033	0.0002	0.0015071	233	154602	rs149048749	0.0014	0.0014	0.0014	0.0014	0.0057	0.0014	0.0013	0.0042	0.0037	0.0002	0.0011	0.0268	0	1.872e-05	0.0057	0.0009	0.0034	0.0004	0.0013	0.0013	0.0013	0.0013	0.0024	0.0012	0.0011	0.0018	0.0016	2.407e-05	0	0.0024	0.0236	0	0	0.0170	0.0011	0.0014	0.0002	0.412	0.10083	T	0.389	0.15554	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999993	0.08975	N	-0.76	0.01693	N	7.46	0.00389	T	-0.41	0.14000	N	0.02	0.00308	-0.9681	0.37592	T	0.001	0.00188	T	9	0.004532248	0.00094	T	6.44E-4	0.00334	T	0.027	0.05988	0.324	0.30549	0.17258766438	0.16869	0.03508303231458617	0.03455	0.0450412281003	0.04875	0.25627040863	0.04456	T	0.004133	0.03542	T	-0.736586	0.00022	T	-0.866209	0.00779	T	0.00539254791341153	0.00058	T	0.248875	0.03711	T	0.053721935	0.10207	0.047158495	0.06733	0.053721935	0.10207	0.047158495	0.06733	-3.342	0.14285	T	.	.	0.210	0.43748	B	.	.	0.815004	0.11860	8.427	0.6147284624252809	0.06718	0.07841	0.13834	N	AEFBI	0.048415	0.08258	N	-1.12487411023511	0.06203	0.2849248	-1.04254342157318	0.08863	0.4378935	3.36172310910447E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.4	2.33	0.27981	-1.080000	0.03517	-2.425000	0.03770	-0.428000	0.05209	0.000000	0.06391	0.000000	0.08366	0.141000	0.19983	0.1906:0.1794:0.6301:0.0	5.215	0.14658	721	0.55360	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1067.98	34	chr17	3127453	.	G	T	1067.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.412e+00;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=0.046;SOR=0.772	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1394	20	0	1	0
chr17	3216345	3216345	C	T	exonic	OR1A1	.	nonsynonymous SNV	OR1A1:NM_014565:exon1:c.C725T:p.S242F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.05	B	0.052	B	0.000	D	0.818	D	3.675	H	1.1	T	-0.431	T	0.226	T	0.585	2.206	13.33	5.05	2.632	7.199	17.140	0.235	0.00679429799731	.	0.000199681	0.0001	0	0	0	0	0	0	0.0009	0.0001035	16	154602	rs546921641	3.557e-05	3.557e-05	2.178e-05	4.95e-05	0.0006	2.762e-05	2.501e-05	0.0004	0.0004	0	0	0	0	0	0	0	6.623e-05	0.0006	1.313e-05	1.312e-05	2.569e-05	0	0.0004	2.18e-06	8.2e-07	7.29e-05	3.029e-05	0	0	0	0	0	0	0	0	0	0.0004	0.005	0.63226	D	0.006	0.70582	D	0.05	0.22331	B	0.052	0.25551	B	0.000114	0.50451	D	0.000000	0.817727	0.34731	D	3.115	0.87836	M	1.1	0.39050	T	-5.67	0.87143	D	0.691	0.69649	-0.4313	0.71024	T	0.226	0.59058	T	10	0.078998566	0.12657	T	0.006794	0.17953	T	0.235	0.53788	0.512	0.61000	0.667260656149	0.66445	0.2593823366046793	0.25852	0.0460182427998	0.04998	0.243053242564	0.03072	T	0.012115	0.10705	T	-0.300571	0.08605	T	-0.26928	0.47893	T	0.467073261737823	0.31424	T	0.868713	0.57175	D	0.6486971	0.75294	0.5392352	0.73371	0.6486971	0.75295	0.5392352	0.73372	-8.57	0.64891	D	.	.	0.571	0.67815	P	.;.;.	.;.;.	3.776082	0.54268	23.5	0.9949691846685953	0.67801	0.97552	0.75497	D	AEFBI	0.691393	0.65140	D	0.224185318758994	0.52373	3.411909	0.243336750963609	0.52272	3.403084	0.999987565294842	0.51787	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.05	5.05	0.67566	7.526000	0.80815	2.859000	0.35190	0.470000	0.21925	0.863000	0.30666	0.982000	0.30508	0.004000	0.06068	0.0:1.0:0.0:0.0	17.140	0.86628	616	0.66398	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2883.98	197	chr17	3216345	.	C	T	2883.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.26;DP=3052;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.35;ReadPosRankSum=0.625;SOR=0.669	GT:AD:DP:GQ:PL	0/0:199,0:199:99:0,120,1800	20	0	1	0
chr17	3216354	3216354	C	T	exonic	OR1A1	.	nonsynonymous SNV	OR1A1:NM_014565:exon1:c.C734T:p.T245M,	.	.	429	1074	19	0	0	19	0.00876788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	N	1.645	L	1.14	T	-1.058	T	0.109	T	0.302	1.606	11.33	2.97	1.374	0.145	6.460	0.098	.	0.0002	0.000399361	0.0021	9.612e-05	0.0004	0	0	0.0011	0.0011	0.0108	0.0017852	276	154602	rs62090945	0.0012	0.0012	0.0009	0.0016	0.0112	0.0012	0.0012	0.0106	0.0104	0.0001	0.0004	0.0006	0	0.0007	0.0038	0.0006	0.0010	0.0112	0.0006	0.0006	0.0004	0.0008	0.0079	0.0005	0.0005	0.0059	0.0052	2.406e-05	0	0.0005	0.0006	0	0.0008	0.0068	0.0005	0.0005	0.0079	0.009	0.57480	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000065	0.52346	D	0.000000	1	0.08975	N	1.435	0.35949	L	1.14	0.38397	T	-3.59	0.69236	D	0.144	0.14480	-1.0576	0.12362	T	0.109	0.39439	T	10	0.010473847	0.00233	T	.	.	.	0.098	0.28162	.	.	0.678187180389	0.67545	0.23792941975773832	0.23706	0.108402233092	0.12225	0.193604499102	0.00295	T	0.012	0.10762	T	-0.53056	0.00381	T	-0.525494	0.19739	T	0.0836626874931054	0.10449	T	0.284972	0.05045	T	0.11131756	0.26307	0.11306539	0.27285	0.11131756	0.26307	0.11306539	0.27285	-5.993	0.46221	T	.	.	0.101	0.17657	B	.;.;.	.;.;.	2.263604	0.28925	17.96	0.99699207915652932	0.80522	0.03538	0.08731	N	AEFBI	0.035229	0.04498	N	-0.0623885657421028	0.39052	2.296755	-0.186504192124276	0.32032	1.818419	6.33953354773996E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.05	2.97	0.33479	-0.347000	0.07799	0.220000	0.16063	-2.544000	0.00250	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6879:0.1495:0.1627	6.460	0.21151	616	0.66398	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3016.98	197	chr17	3216354	.	C	T	3016.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.31;DP=3043;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.01;ReadPosRankSum=0.869;SOR=0.700	GT:AD:DP:GQ:PL	0/0:199,0:199:99:0,120,1800	20	0	1	0
chr17	3241365	3241365	A	G	exonic	OR1D4	.	unknown	UNKNOWN,	.	.	601	918	0	3	0	6	0.00325733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	.	.	.	.	.	.	.	.	0.0033426	87	26028	rs139589161	0.0008	0.0009	0.0007	0.0009	0.0030	0.0007	0.0007	0.0027	0.0026	0.0005	0.0012	0.0006	0.0030	0.0004	0.0017	0.0004	0.0023	0.0030	0.0015	0.0026	0.0016	0.0014	0.0052	0.0013	0.0013	0.0037	0.0032	0.0016	0	0.0032	0.0004	0.0052	0	0.0044	0.0009	0.0039	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.06667	356.84	622	chr17	3241365	.	A	G	356.84	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-1.586e+00;DP=622;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.7878;MLEAC=1;MLEAF=0.033;MQ=34.12;MQRankSum=-1.707e+00;QD=23.79;ReadPosRankSum=-1.160e+00;SOR=2.584	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,114,1710	14	1	0	6
chr17	3277983	3277983	C	T	exonic	OR3A2	.	nonsynonymous SNV	OR3A2:NM_002551:exon1:c.G953A:p.R318K,	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	T	0.001	B	0.005	B	0.354	N	1.000	N	-0.55	N	1.32	T	-1.024	T	0.029	T	0.096	1.578	11.23	-2.59	-0.355	-0.655	4.494	0.010	0.00166111512766	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1320266395	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.431	0.09514	T	0.608	0.07741	T	0.001	0.07471	B	0.005	0.11217	B	0.354175	0.04264	N	1.592810	1	0.08975	N	0.125	0.08623	N	1.32	0.35219	T	0.0	0.07008	N	0.061	0.03283	-1.0238	0.22476	T	0.029	0.12673	T	10	0.054848403	0.05904	T	0.001661	0.02728	T	0.010	0.01040	0.385	0.40460	0.35421846163	0.35036	0.07896970793811726	0.07831	0.750165732153	0.63728	0.203065663576	0.00551	T	0.003799	0.03212	T	-0.342273	0.05232	T	-0.729428	0.04353	T	0.0339624235624875	0.02631	T	0.248275	0.03682	T	0.032090984	0.03170	0.033857483	0.02351	0.032090984	0.03170	0.033857483	0.02350	-3.142	0.11785	T	.	.	0.094	0.17103	B	.;.;.	.;.;.	-0.573181	0.01647	0.115	0.81755929819088313	0.13844	0.04393	0.09975	N	AEFBI	0.059620	0.11274	N	-1.41006336631396	0.02549	0.1127305	-1.41211352468416	0.03130	0.145415	3.59499275845796E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.25	-2.59	0.05847	-1.622000	0.02145	-10.766000	0.00667	0.500000	0.22704	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.3012:0.2276:0.4712	4.494	0.11241	641	0.64016	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	859.98	33	chr17	3277983	.	C	T	859.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.34;DP=801;ExcessHet=0.0000;FS=0.814;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.56;ReadPosRankSum=-1.239e+00;SOR=0.532	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr17	3292560	3292560	T	C	exonic	OR3A1	.	nonsynonymous SNV	OR3A1:NM_002550:exon1:c.A23G:p.N8S,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.438	B	0.252	B	0.000	D	0.870	D	2.54	M	2.49	T	-1.026	T	0.062	T	0.313	4.546	24.6	6.1	2.340	2.783	15.51	0.176	0.0115965891629	.	0.000399361	6.831e-05	0.0003	0	0	0	0	0	0.0003	6.47e-05	10	154602	rs190322674	4.182e-05	4.173e-05	2.455e-05	5.93e-05	0.0005	3.318e-05	3.008e-05	0.0003	0.0003	0.0004	0	0	0	0	0.0002	4.505e-06	1.661e-05	0.0005	3.285e-05	3.281e-05	2.571e-05	4.031e-05	0.0002	1.261e-05	7.98e-06	3.245e-05	1.912e-05	9.632e-05	0	0	0	0	0	0	0	0	0.0002	0.004	0.65419	D	0.007	0.69154	D	0.438	0.35858	B	0.252	0.39069	B	0.000252	0.46924	D	0.000000	0.869714	0.35540	D	2.455	0.71248	M	2.49	0.14531	T	-3.46	0.67705	D	0.37	0.41162	-1.0264	0.21625	T	0.062	0.25744	T	10	0.13827339	0.26298	T	0.011597	0.29387	T	0.176	0.44373	.	.	0.451118754121	0.44735	0.10037792400719035	0.09968	0.0383316184181	0.04077	0.296737521887	0.09916	T	0.098891	0.40316	T	-0.403307	0.02203	T	-0.506581	0.21668	T	0.194186434149742	0.20088	T	0.567243	0.20104	T	0.26984292	0.50056	0.17314713	0.39620	0.26984292	0.50056	0.17314713	0.39619	-6.123	0.47297	T	.	.	0.083	0.09191	B	.;.	.;.	2.595951	0.33687	19.41	0.99643024660330315	0.76819	0.89681	0.50302	D	AEFDBI	0.182407	0.30974	N	0.337128802010646	0.58062	3.976565	0.422792909408657	0.62987	4.523916	0.012136831371428	0.12283	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.1	6.1	0.99108	2.412000	0.44263	1.167000	0.24596	0.665000	0.62972	0.793000	0.29632	0.902000	0.27988	0.052000	0.15357	0.0:0.0:0.0:1.0	15.51	0.75505	661	0.61838	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1445.98	40	chr17	3292560	.	T	C	1445.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.76;DP=928;ExcessHet=0.0000;FS=1.381;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.48;ReadPosRankSum=-8.070e-01;SOR=0.829	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1057	20	0	1	0
chr17	3421253	3421253	A	G	exonic	OR3A3	.	nonsynonymous SNV	OR3A3:NM_012373:exon1:c.A686G:p.H229R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.097	B	0.084	B	.	.	1.000	N	0.755	N	8.78	T	-1.114	T	0.000	T	0.143	-1.126	0.120	1.43	0.384	-1.857	3.051	0.027	0.000641649174783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.18823	T	0.349	0.17531	T	0.097	0.25541	B	0.084	0.29270	B	.	.	.	.	1	0.08975	N	-0.335	0.03518	N	8.78	0.00058	T	-4.53	0.78388	D	0.071	0.04426	-1.1136	0.02778	T	0.000	0.00114	T	9	0.12435472	0.23617	T	6.42E-4	0.00334	T	0.027	0.05988	0.518	0.61915	0.173771789658	0.16945	0.5480841144700164	0.54734	1.40192243493	0.85228	0.286088168621	0.08355	T	0.010632	0.09578	T	-0.335815	0.05684	T	-0.720151	0.04788	T	0.100554842439386	0.12418	T	0.673733	0.28234	T	0.14330181	0.32940	0.10827037	0.26077	0.14330181	0.32940	0.10827037	0.26077	-3.07	0.10954	T	.	.	0.064	0.02518	B	.;.;.	.;.;.	0.508576	0.08773	5.551	0.55873177707289723	0.05433	0.01514	0.05002	N	AEFDBI	0.042979	0.06736	N	-1.06618532800966	0.07274	0.3373977	-1.13582156285282	0.07025	0.3402188	2.37430395596839E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.52	1.43	0.21585	-1.238000	0.03029	-1.378000	0.05580	0.733000	0.85838	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.6589:0.0:0.1286:0.2125	3.051	0.05796	824	0.40336	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2547.98	43	chr17	3421253	.	A	G	2547.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.971e+00;DP=1793;ExcessHet=0.0000;FS=2.684;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.92;ReadPosRankSum=0.704;SOR=0.926	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr17	3448977	3448977	G	A	exonic	SPATA22	.	nonsynonymous SNV	SPATA22:NM_001170696:exon5:c.C373T:p.R125C	.	.	431	1083	8	0	0	8	0.00367985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.955	P	0.365	B	0.986	N	1.000	N	0	N	2.21	T	-1.029	T	0.029	T	0.4	-0.133	3.351	2.47	0.532	0.625	8.659	0.087	.	.	0.00898562	0.0044	0	0.0004	0.0001	0	2.997e-05	0.0011	0.0316	0.0038615	597	154602	rs200796816	0.0020	0.0020	0.0012	0.0028	0.0310	0.0019	0.0019	0.0300	0.0296	5.974e-05	0.0011	0	0	0	0.0007	3.148e-05	0.0021	0.0310	0.0013	0.0014	0.0007	0.0020	0.0328	0.0012	0.0011	0.0286	0.0270	0	0	0.0027	0	0	0	0	2.941e-05	0.0014	0.0328	0.183	0.25768	T	0.117	0.41742	T	0.0	0.54515	B	0.0	0.43339	B	0.985855	0.08064	N	0.991602	1	0.08975	N	0.69	0.16971	N	2.16	0.19166	T	-2.64	0.60827	D	0.096	0.11340	-1.0292	0.20713	T	0.029	0.12541	T	10	0.0033317804	0.00058	T	.	.	.	0.087	0.25287	.	.	0.0482279557977	0.04254	0.15362079192647216	0.15284	0.0307955421542	0.03189	0.180036693811	0.00094	T	0.043149	0.35818	T	-0.52599	0.00406	T	-0.505327	0.21796	T	0.0228706497232127	0.01009	T	0.417158	0.18022	T	0.08193214	0.18851	0.081513114	0.18531	0.08193214	0.18851	0.081513114	0.18530	-4.607	0.32720	T	0.4200619553649225	0.50897	0.074	0.08368	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.983925	0.25203	16.68	0.61445414317425828	0.06711	0.41834	0.26745	N	AEFI	0.174116	0.30123	N	-0.682582019221086	0.16519	0.8422961	-0.651266273426691	0.18185	0.9703216	3.01328354365844E-4	0.06454	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.67	2.47	0.29113	0.733000	0.25754	0.386000	0.17834	0.676000	0.76740	0.971000	0.34370	0.615000	0.25787	0.063000	0.16184	0.0:0.2313:0.6142:0.1545	8.659	0.33241	799	0.44747	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2056.98	33	chr17	3448977	.	G	A	2056.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.152;DP=1253;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=1.84;SOR=0.684	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1117	20	0	1	0
chr17	3476274	3476274	G	A	exonic	ASPA	.	nonsynonymous SNV	ASPA:NM_000049:exon1:c.G115A:p.A39T	Canavan disease, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	689591	Spongy_degeneration_of_central_nervous_system	MONDO:MONDO:0010079,MedGen:C0206307,OMIM:271900,Orphanet:141	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.61	T	0.003	B	0.002	B	0.020	N	0.597	D	-0.02	N	-4.51	D	-0.064	T	0.693	D	0.19	1.417	10.67	-1.85	-0.205	1.107	9.941	0.294	0.0481110624727	.	0.000399361	0.0004	0	0	0	0	0.0001	0	0.0028	0.0003816	59	154602	rs544167597	0.0003	0.0003	0.0002	0.0004	0.0035	0.0003	0.0003	0.0032	0.0030	0	0	0	2.52e-05	0	0.0005	0.0001	0.0001	0.0035	0.0001	0.0001	3.855e-05	0.0002	0.0029	7.087e-05	5.744e-05	0.0018	0.0014	0	0	6.536e-05	0	0	0	0	1.47e-05	0.0005	0.0029	0.514	0.07401	T	0.622	0.08079	T	0.003	0.11197	B	0.002	0.06944	B	0.019746	0.27189	N	0.422898	0.596672	0.32502	D	0.735	0.18861	N	-4.51	0.97672	D	-0.71	0.20145	N	0.068	0.04072	-0.0641	0.80906	T	0.693	0.89393	D	10	0.009462327	0.00213	T	0.048111	0.63228	D	0.294	0.61388	0.325	0.30711	0.683028895158	0.68032	0.513418895341047	0.51263	0.0672314131772	0.07511	0.264992773533	0.05500	T	0.316791	0.89309	T	-0.304552	0.08236	T	-0.213295	0.53380	T	0.0141792150929691	0.00279	T	0.677732	0.28664	T	0.052487727	0.09798	0.04547096	0.06126	0.052487727	0.09797	0.04547096	0.06126	-4.171	0.26330	T	0.1841515365011986	0.23872	0.066	0.02145	B	.;.;.	.;.;.	1.531101	0.19647	14.37	0.84258332309524087	0.15187	0.45122	0.27468	N	AEFDGBCI	0.286563	0.39892	N	-1.11541775557811	0.06368	0.2929593	-1.0320991597225	0.09084	0.44999	0.99954842827776	0.40300	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.34	-1.85	0.07363	1.153000	0.31287	-0.249000	0.10523	-0.159000	0.11634	0.553000	0.27369	0.000000	0.08366	0.959000	0.51448	0.4642:0.0:0.5358:0.0	9.941	0.40748	754	0.51307	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2272.98	169	chr17	3476274	.	G	A	2272.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.186;DP=867;ExcessHet=0.0000;FS=2.716;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=0.884;SOR=0.942	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1165	20	0	1	0
chr17	3481603	3481603	-	A	exonic	ASPA	.	frameshift insertion	ASPA:NM_000049:exon2:c.238dupA:p.M82Nfs*8	Canavan disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	358413	Canavan_Disease,_Familial_Form|Inborn_genetic_diseases|not_provided|Spongy_degeneration_of_central_nervous_system	MedGen:C0751663|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0010079,MedGen:C0206307,OMIM:271900,Orphanet:141	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.076e-06	0	0	0	0	1.689e-05	0	0	0.000461	12	26028	rs1057516583	6.161e-06	7.525e-06	8.173e-06	4.129e-06	5.978e-05	2.9e-06	2.1e-06	9.9e-06	3.7e-06	5.978e-05	0	0	0	0	0	5.398e-06	0	1.162e-05	1.317e-05	1.314e-05	2.574e-05	0	2.419e-05	2.19e-06	8.2e-07	.	.	2.419e-05	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	429.94	25	chr17	3481603	.	C	CA	429.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.289;DP=606;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-7.930e-01;SOR=0.776	GT:AD:DP:GQ:PL	0/0:26,0:26:75:0,75,904	20	0	1	0
chr17	3542647	3542647	A	C	exonic	TRPV3	.	nonsynonymous SNV	TRPV3:NM_001258205:exon6:c.T518G:p.M173R	Olmsted syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.998	D	0.993	D	0.000	D	0.974	D	2.11	M	-0.18	T	-0.165	T	0.405	T	0.909	3.529	18.01	5.34	2.155	4.717	14.815	0.633	0.044795371739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.032	0.53426	D	0.984	0.73220	D	0.974	0.73157	D	0.000011	0.62929	D	0.113521	0.973999	0.39069	D	2.295	0.65404	M	-0.18	0.65747	T	-3.68	0.70314	D	0.891	0.89020	-0.1650	0.78549	T	0.405	0.75522	T	10	0.8859072	0.87919	D	0.044795	0.61666	D	0.633	0.85924	0.764	0.89213	0.778809368013	0.77677	0.959582743715017	0.95944	0.676155866207	0.59746	0.758194625378	0.75661	T	0.262998	0.63464	T	0.305694	0.83416	D	0.201332	0.83200	D	0.986143946647644	0.76940	D	0.882712	0.60367	D	0.8992864	0.91319	0.70633596	0.82686	0.8992864	0.91320	0.70633596	0.82687	-11.684	0.83278	D	.	.	0.996	0.95940	P	.;.;.;.	.;.;.;.	4.740569	0.76452	26.5	0.98662198284268798	0.44345	0.96795	0.70980	D	AEFDBI	0.665835	0.63451	D	0.653497863947941	0.76596	6.515662	0.633864656499335	0.77414	6.674794	0.93862271961933	0.27351	0.719381	0.83141	0	0.723133	0.82719	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.34	5.34	0.75982	3.641000	0.54094	8.142000	0.76686	0.735000	0.85950	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.815	0.69656	632	0.64850	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1880.98	40	chr17	3542647	.	A	C	1880.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=945;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=-2.490e-01;SOR=0.746	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	20	0	1	0
chr17	3580491	3580491	T	C	exonic	TRPV1	.	nonsynonymous SNV	TRPV1:NM_080706:exon9:c.A1513G:p.T505A	.	.	429	1071	21	1	0	23	0.0106236	.	.	704101	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.19	T	0.004	B	0.012	B	0.057	N	0.688	N	0.315	N	-3.24	D	-0.643	T	0.379	T	0.379	1.325	10.35	-3.17	-0.873	0.431	0.812	0.363	0.00985268792425	0.0038	0.00239617	0.0047	0.0012	0.0005	0	0.0009	0.0059	0.0089	0.0085	0.0044372	686	154602	rs17633288	0.0041	0.0041	0.0040	0.0043	0.0120	0.0041	0.0040	0.0097	0.0089	0.0006	0.0012	0.0015	0	0.0011	0.0120	0.0043	0.0040	0.0087	0.0029	0.0030	0.0031	0.0028	0.0054	0.0027	0.0026	0.0043	0.0041	0.0009	0	0.0027	0.0032	0	0.0007	0.0068	0.0047	0.0009	0.0054	0.412	0.11478	T	0.358	0.17640	T	0.0	0.09854	B	0.003	0.08700	B	0.057080	0.22509	N	0.521439	0.794941	0.30220	N	0.18	0.09070	N	-3.24	0.93474	D	-0.67	0.25118	N	0.098	0.15609	-0.6431	0.63013	T	0.379	0.73625	T	10	0.009269506	0.00209	T	0.009853	0.25675	T	0.363	0.68319	.	.	0.110078149338	0.10416	0.2848063240335977	0.28393	0.0628215532362	0.06995	0.304477274418	0.11072	T	0.678456	0.90532	D	-0.279384	0.10733	T	-0.168684	0.57564	T	0.00256110298506141	0.00027	T	0.538946	0.18512	T	0.023225682	0.01044	0.023724893	0.00386	0.023225682	0.01044	0.023724893	0.00386	-6.518	0.50425	T	.	.	0.069	0.03625	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.897280	0.12713	9.231	0.71797208862771922	0.09751	0.86742	0.46088	D	AEFBI	0.142785	0.26532	N	-1.08010813166704	0.07010	0.3244003	-0.962674042091629	0.10631	0.536613	2.73239071588903E-5	0.03498	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.55	-3.17	0.04882	0.427000	0.21098	1.591000	0.27530	-0.952000	0.02027	0.999000	0.42656	1.000000	0.68203	0.511000	0.29267	0.2581:0.2889:0.1191:0.3339	0.812	0.01025	661	0.61838	Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2236.11	33	chr17	3580491	.	T	C	2236.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.604;DP=902;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.330;SOR=0.704	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1233	19	0	2	0
chr17	3663755	3663755	A	G	exonic	TAX1BP3	.	nonsynonymous SNV	TAX1BP3:NM_001204698:exon3:c.T290C:p.L97P	.	.	419	1061	39	3	0	45	0.020766	.	.	1948661	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.03	D	0.096	B	0.006	B	0.135	U	1.000	D	0	N	2.48	T	-1.024	T	0.014	T	0.51	2.700	14.99	5.05	2.038	4.343	10.458	0.088	.	0.0056	0.00559105	0.0076	0.0008	0.0042	0	0.0117	0.0079	0.0112	0.0153	0.0065329	1010	154602	rs143045421	0.0069	0.0069	0.0066	0.0072	0.0177	0.0068	0.0067	0.0147	0.0140	0.0010	0.0055	0.0188	0	0.0135	0.0177	0.0061	0.0072	0.0150	0.0061	0.0061	0.0056	0.0066	0.0159	0.0058	0.0057	0.0131	0.0120	0.0009	0.0253	0.0067	0.0184	0.0004	0.0151	0.0136	0.0066	0.0052	0.0159	0.004	0.65419	D	0.011	0.64786	D	0.096	0.25489	B	0.006	0.12133	B	0.134888	0.18500	U	0.496538	0.999909	0.50806	D	0.69	0.16971	N	2.48	0.14657	T	0.08	0.06026	N	0.349	0.43995	-1.0236	0.22541	T	0.014	0.05417	T	10	0.0056372285	0.00125	T	.	.	.	0.088	0.25558	.	.	0.167679373172	0.16340	0.6078694356104023	0.60718	0.822542354302	0.67239	0.660965800285	0.61548	T	0.013844	0.11897	T	-0.450497	0.01122	T	-0.40756	0.32507	T	0.0197139498959932	0.00673	T	0.789121	0.42899	T	0.3396613	0.56253	0.27132738	0.53032	0.3704624	0.58620	0.27132738	0.53031	-4.721	0.33657	T	.	.	0.192	0.41187	B	.;.	.;.	4.457874	0.69356	25.4	0.99505271256979999	0.68264	0.85361	0.44486	D	AEFDBHCIJ	0.859156	0.77678	D	-0.141860665605888	0.35583	2.04563	0.0697369917087685	0.43037	2.613753	0.9999985346376	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.05	5.05	0.67566	2.498000	0.45023	11.212000	0.89433	0.738000	0.86027	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.8368:0.1632:0.0:0.0	10.458	0.43750	778	0.48011	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	561.11	36	chr17	3663755	.	A	G	561.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.258;DP=689;ExcessHet=0.1072;FS=2.327;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.05;ReadPosRankSum=1.03;SOR=1.164	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1119	19	0	2	0
chr17	3679606	3679606	G	A	exonic	P2RX5	.	nonsynonymous SNV	P2RX5:NM_001204520:exon10:c.C1171T:p.L391F	.	.	401	1115	6	0	0	6	0.00268336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.015	B	0.007	B	0.001	U	1.000	N	0	N	3.42	T	-0.952	T	0.012	T	0.106	1.497	10.96	-3.63	-0.310	-1.324	3.019	0.067	0.00961016300398	.	.	8.328e-06	0	0	0	0	1.515e-05	0	0	6.5e-06	1	154602	rs763242404	1.58e-05	1.642e-05	1.231e-05	1.933e-05	0.0003	1.052e-05	8.79e-06	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	1.259e-05	3.314e-05	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.42487	T	0.122	0.37730	T	0.015	0.17086	B	0.007	0.12992	B	0.001092	0.00736	U	614.321000	1	0.08975	N	0.695	0.17993	N	3.34	0.08721	T	-1.1	0.28497	N	0.084	0.21580	-0.9516	0.40695	T	0.012	0.04653	T	10	0.051540762	0.05051	T	0.00961	0.25130	T	0.067	0.19503	.	.	0.0884992946249	0.08302	0.21570084939465148	0.21486	0.144935694035	0.16379	0.391272425652	0.23849	T	0.031505	0.27673	T	-0.350981	0.04666	T	-0.741937	0.03810	T	0.0578021505075396	0.06818	T	0.384762	0.10990	T	0.048454292	0.08446	0.04538682	0.06095	0.048454292	0.08446	0.04538682	0.06094	-5.303	0.40072	T	.	.	0.087	0.10979	B	.;.;.;.;.;.	.;.;.;.;.;.	0.433492	0.08038	4.759	0.94737045427698752	0.25423	0.08381	0.14317	N	AEFDBCI	0.119821	0.23369	N	-1.47242648442331	0.02046	0.08995671	-1.53146619464122	0.02106	0.0963722	0.999727857229966	0.42220	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	3.43	-3.63	0.04238	-1.361000	0.02704	0.309000	0.17063	-0.189000	0.09497	0.000000	0.06391	0.020000	0.20764	0.012000	0.09680	0.0967:0.406:0.223:0.2743	3.019	0.05701	814	0.42100	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1038.98	37	chr17	3679606	.	G	A	1038.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.247;DP=751;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.98;ReadPosRankSum=0.519;SOR=0.752	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1256	20	0	1	0
chr17	3688065	3688065	G	A	exonic	P2RX5	.	nonsynonymous SNV	P2RX5:NM_001204520:exon8:c.C856T:p.R286C	.	.	407	1102	13	0	0	13	0.00586378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.53	H	2.52	T	-0.726	T	0.147	T	0.988	4.678	25.8	5.11	2.549	6.141	12.947	0.384	.	0.0011	0.00159744	0.0028	0.0011	0.0007	0	0.0018	0.0020	0.0035	0.0101	0.0017076	264	154602	rs146166049	0.0015	0.0015	0.0012	0.0017	0.0089	0.0014	0.0014	0.0083	0.0081	0.0003	0.0001	0.0097	0	0.0007	0.0028	0.0009	0.0021	0.0089	0.0011	0.0012	0.0010	0.0014	0.0065	0.0010	0.0010	0.0047	0.0041	0.0006	0.0363	0.0002	0.0069	0	0	0.0034	0.0007	0.0029	0.0065	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.62	0.93917	H	2.52	0.14160	T	-7.64	0.96191	D	0.966	0.97643	-0.7256	0.59184	T	0.147	0.47255	T	10	0.051166207	0.04956	T	.	.	.	0.613	0.84879	.	.	0.632280709065	0.62926	0.7920684377447199	0.79158	0.711518779709	0.61734	0.557567834854	0.46924	T	0.306456	0.67866	T	-0.0841587	0.39037	T	0.111885	0.77698	D	0.194286555534692	0.20094	T	0.989301	0.96450	D	0.8894982	0.90464	0.6084017	0.77227	0.8894982	0.90465	0.6084017	0.77228	-10.728	0.78145	D	.	.	0.946	0.89449	P	.;.;.;.;.;.	.;.;.;.;.;.	5.029618	0.83645	28.1	0.9993925872729118	0.99734	0.94299	0.60725	D	AEFDGBCI	0.885052	0.81524	D	0.882374075683285	0.90870	10.60467	0.794715931242121	0.89424	9.968994	0.997540685214884	0.35740	0.839682	0.99964	0	0.643519	0.57511	0	0.736553	0.94036	0	0.620976	0.48614	0	.	.	5.11	5.11	0.69188	4.980000	0.63533	11.793000	0.96431	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.463000	0.28185	0.0:0.0:0.8381:0.1619	12.947	0.57776	830	0.39242	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2168.11	39	chr17	3688065	.	G	A	2168.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.06;DP=948;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.86;ReadPosRankSum=1.72;SOR=0.665	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	19	0	2	0
chr17	3695911	3695911	A	T	exonic	P2RX5	.	nonsynonymous SNV	P2RX5:NM_001204519:exon1:c.T95A:p.L32Q	.	.	396	1117	9	0	0	9	0.00401248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	.	.	1.000	D	2.85	M	3.35	T	-1.105	T	0.048	T	0.891	3.856	19.59	3.33	1.529	8.769	11.333	0.468	0.236888456295	0.0045	0.00159744	0.0041	0.0017	0.0042	0	0.0006	0.0062	0.0067	0.0007	0.0040426	625	154602	rs142863822	0.0055	0.0055	0.0056	0.0053	0.0161	0.0054	0.0053	0.0135	0.0125	0.0014	0.0040	0.0218	2.519e-05	0.0003	0.0161	0.0060	0.0074	0.0005	0.0038	0.0038	0.0042	0.0033	0.0053	0.0035	0.0034	0.0049	0.0047	0.0016	0	0.0031	0.0210	0.0002	0.0005	0.0102	0.0053	0.0061	0.0008	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.999993	0.58761	D	3.17	0.88688	M	3.35	0.05989	T	-4.15	0.77308	D	0.898	0.89800	-1.1045	0.03588	T	0.048	0.20315	T	9	0.0128594935	0.00275	T	0.236888	0.88519	D	0.468	0.76289	.	.	0.492200611407	0.48855	0.6062517246499286	0.60556	0.619650878989	0.56302	0.537075996399	0.44032	T	0.216573	0.57878	T	-0.0943812	0.37351	T	0.093156	0.76456	D	0.0342277089542724	0.02675	T	0.906109	0.77539	D	0.75578994	0.81206	0.72901064	0.83989	0.75578994	0.81207	0.72901064	0.83990	-11.306	0.82848	D	.	.	0.533	0.76268	A	.;.;.;.;.	.;.;.;.;.	4.856198	0.79421	27.1	0.99521544950057794	0.69284	0.53590	0.29409	D	ALL	0.938104	0.93683	D	0.608941124306516	0.73738	6.015681	0.470581582995615	0.66050	4.901765	0.999999999999993	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	3.33	3.33	0.37245	8.546000	0.90465	10.738000	0.83653	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.405000	0.26894	1.0:0.0:0.0:0.0	11.333	0.48723	840	0.37365	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1642.98	34	chr17	3695911	.	A	T	1642.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.186;DP=806;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.54;ReadPosRankSum=0.708;SOR=0.725	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	20	0	1	0
chr17	3723303	3723303	C	G	exonic	ITGAE	.	nonsynonymous SNV	ITGAE:NM_002208:exon28:c.G3222C:p.W1074C,	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.013	B	0.003	B	.	.	1.000	N	0	N	0.99	T	-1.031	T	0.053	T	0.091	1.093	9.461	1.86	0.604	0.403	6.577	0.117	0.00577457878949	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049208328	4.798e-06	5.473e-06	2.729e-06	6.888e-06	6.311e-06	2e-06	1.28e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.311e-06	0	0	1.314e-05	1.313e-05	0	2.69e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.007	0.59928	D	0.004	0.74150	D	0.013	0.16609	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.99	0.41750	T	-0.98	0.25986	N	0.197	0.21710	-1.0314	0.20002	T	0.053	0.22307	T	9	0.11523497	0.21704	T	0.005775	0.14982	T	0.117	0.32689	0.589	0.71749	0.399596177874	0.39575	0.4697385648979141	0.46892	0.246790638485	0.27215	0.2645586133	0.05446	T	0.086543	0.37747	T	-0.295443	0.09096	T	-0.66216	0.08121	T	0.131037495577844	0.15478	T	0.308669	0.05963	T	0.10798251	0.25533	0.06814998	0.14193	0.10798251	0.25533	0.06814998	0.14193	-5.81	0.44661	T	.	.	0.356	0.56971	A	.	.	2.074899	0.26388	17.10	0.79534517268784033	0.12785	0.06072	0.12044	N	AEFDGBCI	0.084255	0.17075	N	-0.952329744523402	0.09640	0.4571452	-0.963081844887274	0.10621	0.5360854	0.999988317612635	0.51787	0.542737	0.22433	0	0.685571	0.66316	0	0.64067	0.45733	0	0.665054	0.64577	0	.	.	3.89	1.86	0.24489	0.178000	0.16634	1.823000	0.29055	0.596000	0.33519	0.000000	0.06391	0.196000	0.23534	0.001000	0.02609	0.2068:0.5932:0.2:0.0	6.577	0.21766	656	0.62345	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1645.98	35	chr17	3723303	.	C	G	1645.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.192e+00;DP=853;ExcessHet=0.0000;FS=2.281;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.47;ReadPosRankSum=0.404;SOR=0.488	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1318	20	0	1	0
chr17	3725463	3725463	A	C	exonic	HASPIN	.	nonsynonymous SNV	HASPIN:NM_031965:exon1:c.A1528C:p.I510L,	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.004	B	0.096	N	1.000	N	-0.555	N	-0.22	T	-1.029	T	0.082	T	0.126	-1.865	0.008	0.591	0.316	0.296	0.765	0.095	0.0221204505999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.004	0.10090	B	0.096308	0.20082	N	0.249150	1	0.81001	D	0.105	0.08473	N	-0.22	0.66474	T	0.73	0.02068	N	0.147	0.14905	-1.0289	0.20811	T	0.082	0.32324	T	10	0.09604183	0.17199	T	0.02212	0.44975	T	0.095	0.27398	0.618	0.75232	0.329020015101	0.32502	0.5850716257667402	0.58437	0.384924669176	0.39787	0.402416497469	0.25406	T	0.046701	0.27503	T	-0.182297	0.23394	T	-0.499634	0.22385	T	0.0382470975469885	0.03375	T	0.49935	0.15589	T	0.10784897	0.25500	0.047960043	0.07023	0.10784897	0.25500	0.047960043	0.07023	-4.43	0.29961	T	.	.	0.059	0.00730	B	.	.	-0.185027	0.03167	0.517	0.49323519516506487	0.04190	0.11254	0.16511	N	AEFBHCI	0.054295	0.09861	N	-0.972216841395767	0.09200	0.4344607	-0.82516060096959	0.13886	0.7227569	0.999424110620055	0.39630	0.722319	0.85440	0	0.587265	0.34161	0	0.698795	0.65105	0	0.536845	0.12434	2	.	.	4.87	0.591	0.16648	0.258000	0.18156	-0.336000	0.09852	-0.815000	0.03024	0.935000	0.32453	0.000000	0.08366	0.408000	0.26961	0.1889:0.3932:0.176:0.2418	0.765	0.00949	660	0.61921	Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2413.98	173	chr17	3725463	.	A	C	2413.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.447;DP=1254;ExcessHet=0.0000;FS=0.560;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=0.492;SOR=0.618	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	20	0	1	0
chr17	3761067	3761067	T	C	exonic	ITGAE	.	nonsynonymous SNV	ITGAE:NM_002208:exon6:c.A544G:p.K182E,	.	.	387	1123	12	0	0	12	0.00531444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	0.14	N	0.24	T	-0.993	T	0.044	T	0.062	-0.197	3.041	-6.0	-1.253	-1.083	5.559	0.030	.	0.0040	0.00319489	0.0081	0.0008	0.0029	0	0.0443	0.0088	0.0179	0.0024	0.0071927	1112	154602	rs140947594	0.0066	0.0067	0.0067	0.0066	0.0101	0.0065	0.0065	0.0080	0.0073	0.0009	0.0027	0.0267	2.519e-05	0.0453	0.0101	0.0052	0.0078	0.0031	0.0076	0.0076	0.0064	0.0088	0.0067	0.0072	0.0071	0.0061	0.0059	0.0009	0	0.0031	0.0242	0.0002	0.0476	0.0103	0.0067	0.0043	0.0037	0.893	0.02465	T	0.478	0.11968	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	0.24	0.59583	T	0.63	0.02404	N	0.283	0.32037	-0.9933	0.31749	T	0.044	0.18989	T	9	0.002430737	0.00036	T	.	.	.	0.030	0.07022	.	.	0.277730125212	0.27379	0.3108634347719667	0.30999	0.216895208619	0.24208	0.319416284561	0.13333	T	0.027369	0.20056	T	-0.635011	0.00089	T	-0.673894	0.07361	T	0.00140506157011114	0.00014	T	0.254275	0.03911	T	0.055457324	0.10781	0.056422874	0.10077	0.055457324	0.10781	0.056422874	0.10077	-0.917	0.00912	T	.	.	0.064	0.01786	B	.	.	-1.236807	0.00495	0.011	0.30912812002700618	0.01715	0.00142	0.00866	N	AEFBIJ	0.024307	0.01484	N	-1.7405695653379	0.00708	0.03054239	-1.79769488077882	0.00767	0.03418783	0.986231812286393	0.31028	0.569682	0.32691	0	0.657636	0.61667	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.57	-6.0	0.02021	-1.085000	0.03500	-1.087000	0.06371	-0.311000	0.06080	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:0.215:0.2778:0.5073	5.559	0.16415	819	0.41190	.	.	.	.	.	rs140947594	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1434.98	41	chr17	3761067	.	T	C	1434.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.297;DP=830;ExcessHet=0.0000;FS=3.524;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=-1.460e-01;SOR=1.063	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1357	20	0	1	0
chr17	3885549	3885549	G	A	exonic	CAMKK1	.	nonsynonymous SNV	CAMKK1:NM_032294:exon2:c.C139T:p.R47W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.731	P	0.085	N	1.000	N	0.69	N	-0.49	T	-0.807	T	0.266	T	0.508	3.217	16.78	1.59	1.232	1.365	4.524	0.250	0.0978680176507	.	.	1.661e-05	0	0	0	0	1.515e-05	0	6.058e-05	1.29e-05	2	154602	rs113610926	2.326e-05	2.326e-05	2.042e-05	2.613e-05	0.0003	1.674e-05	1.478e-05	0.0002	0.0002	0	0	0	0.0003	0	0.0002	1.349e-05	1.656e-05	4.637e-05	1.971e-05	1.97e-05	0	4.034e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0.0002	9.409e-05	0	1.47e-05	0	0	0.004	0.65419	D	0.021	0.58089	D	0.993	0.65571	D	0.522	0.48285	P	0.084654	0.20685	N	0.446525	1	0.08975	N	0.345	0.11182	N	-0.51	0.74371	T	-1.76	0.41618	N	0.501	0.53357	-0.8066	0.54754	T	0.266	0.63759	T	10	0.28109002	0.45685	T	0.097868	0.76846	D	0.250	0.55888	0.279	0.23323	0.86857698694	0.86729	0.30257251461815965	0.30170	1.01584935357	0.74947	0.598633944988	0.52711	T	0.288407	0.66119	T	-0.152496	0.27920	T	-0.231124	0.51663	T	0.356136713433508	0.27258	T	0.935506	0.75876	D	0.0742254	0.16643	0.04792759	0.07009	0.0742254	0.16643	0.04792759	0.07009	-7.72	0.59147	D	.	.	0.126	0.36194	B	.;.;.	.;.;.	3.909328	0.56999	23.8	0.99875209521200747	0.95244	0.60349	0.31170	D	AEFDBIJ	0.247378	0.36796	N	0.117996162160886	0.47302	2.957876	0.104034028557463	0.44754	2.75112	0.999960520272621	0.48965	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.447301	0.06993	0	.	.	4.84	1.59	0.22622	1.595000	0.36318	6.148000	0.54152	0.676000	0.76740	0.058000	0.21700	1.000000	0.68203	0.962000	0.52141	0.0896:0.1472:0.5957:0.1674	4.524	0.11377	437	0.80299	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1093.98	34	chr17	3885549	.	G	A	1093.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=799;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=0.454;SOR=0.777	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1071	20	0	1	0
chr17	4169280	4169280	A	G	exonic	ANKFY1	.	nonsynonymous SNV	ANKFY1:NM_001257999:exon24:c.T3421C:p.S1141P	.	.	428	1092	2	0	0	2	0.000914913	.	.	2436683	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.43	T	0.853	P	0.504	P	0.000	D	1.000	D	-1.175	N	.	.	-1.022	T	0.044	T	0.757	3.260	16.94	5.55	2.110	5.890	10.548	0.204	0.0317158082585	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs779897564	0.0001	0.0001	0.0001	0.0001	0.0006	0.0001	0.0001	0.0002	0.0001	0	0.0001	0	0	0	0.0006	0.0002	0.0001	2.526e-05	0.0001	0.0001	0.0001	9.413e-05	0.0003	7.577e-05	6.281e-05	0.0002	0.0001	0	0	0	0	0	0	0	0.0003	0	0	.	.	.	0.843	0.11691	T	0.001	0.47048	B	0.004	0.47761	B	0.000004	0.62929	D	0.063541	1	0.81001	D	-0.85	0.01485	N	0.89	0.46412	T	.	.	.	0.485	0.61341	-1.0225	0.22899	T	0.044	0.19029	T	9	0.1908789	0.34750	T	0.031716	0.53731	D	0.204	0.49076	0.519	0.62066	0.824805125736	0.82314	0.837359896593853	0.83695	0.55280381684	0.52074	0.744704425335	0.73664	T	0.035674	0.23812	T	-0.155149	0.27508	T	-0.165803	0.57826	T	0.150031177525666	0.17106	T	0.937606	0.76517	D	0.3517106	0.57200	0.43867314	0.67245	0.3517106	0.57200	0.43867314	0.67245	-8.559	0.64819	D	.	.	0.134	0.31048	B	.;.;.	.;.;.	2.902969	0.38485	20.7	0.99757176201781239	0.84772	0.97287	0.73806	D	AEFDGBI	0.830173	0.74894	D	-0.118346070433177	0.36594	2.117329	0.114982761989801	0.45313	2.796778	0.999989392536876	0.51787	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	5.862000	0.69313	11.261000	0.91078	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.710000	0.34452	0.8466:0.0:0.0:0.1534	10.548	0.44259	329	0.86514	FYVE zinc finger;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	842.98	33	chr17	4169280	.	A	G	842.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.62;DP=765;ExcessHet=0.0000;FS=4.930;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.17;ReadPosRankSum=0.377;SOR=1.329	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr17	4206422	4206422	C	T	exonic	ANKFY1	.	nonsynonymous SNV	ANKFY1:NM_001257999:exon7:c.G923A:p.R308Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.083	B	0.018	B	0.000	D	1.000	D	1.1	L	0.63	T	-1.052	T	0.094	T	0.137	2.155	13.16	5.77	2.726	3.837	12.238	0.076	0.00662388613628	.	.	3.313e-05	0	0	0	0	1.499e-05	0	0.0002	2.59e-05	4	154602	rs768383868	1.163e-05	1.163e-05	8.167e-06	1.513e-05	0.0002	7.08e-06	5.79e-06	6.246e-05	4.757e-05	0	0	0	2.519e-05	0	0.0002	3.597e-06	1.656e-05	0.0001	1.313e-05	1.312e-05	2.57e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.58	0.05992	T	0.454	0.12957	T	0.002	0.21238	B	0.001	0.08700	B	0.000422	0.44522	D	0.156952	0.999954	0.52396	D	1.015	0.25427	L	0.62	0.53302	T	-0.03	0.07444	N	0.137	0.13769	-1.0523	0.13763	T	0.094	0.35738	T	10	0.105332434	0.19464	T	0.006624	0.17472	T	0.076	0.22200	0.514	0.61307	0.513554409148	0.50995	0.3568062222381109	0.35594	0.510448245774	0.49159	0.32399648428	0.14027	T	0.041056	0.25731	T	-0.362397	0.03997	T	-0.498655	0.22488	T	0.0730876165736463	0.09078	T	0.934906	0.75551	D	0.0901703	0.21090	0.08425982	0.19370	0.0901703	0.21090	0.08425982	0.19370	-6.213	0.48269	T	.	.	0.087	0.11317	B	.;.;.	.;.;.	3.479934	0.48587	22.6	0.98854136201230747	0.47356	0.94296	0.60715	D	AEFDGBI	0.326143	0.42751	N	-0.134665508836358	0.35889	2.067271	0.0463949536613236	0.41898	2.524907	0.999957662266164	0.48110	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.77	5.77	0.91077	3.889000	0.55925	7.696000	0.66036	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.950000	0.49671	0.0:0.9149:0.0:0.0851	12.238	0.53838	351	0.85421	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1528.98	33	chr17	4206422	.	C	T	1528.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.218;DP=855;ExcessHet=0.0000;FS=2.049;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.93;ReadPosRankSum=0.782;SOR=0.922	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr17	4449297	4449297	G	C	exonic	SPNS3	.	nonsynonymous SNV	SPNS3:NM_001320449:exon6:c.G452C:p.G151A	.	.	423	1092	7	0	0	7	0.00319489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.056	B	0.063	B	0.000	D	0.689	D	0.235	N	0.37	T	-1.008	T	0.076	T	0.346	0.222	5.199	5.05	2.496	3.704	12.091	0.094	.	7.7e-05	0.00279553	0.0021	0.0002	0.0002	0	0	0.0001	0.0022	0.0150	0.0018758	290	154602	rs201912448	0.0008	0.0008	0.0005	0.0012	0.0129	0.0008	0.0008	0.0123	0.0120	2.989e-05	6.725e-05	0.0001	0	0	0.0017	4.587e-05	0.0008	0.0129	0.0005	0.0005	0.0003	0.0008	0.0145	0.0004	0.0004	0.0118	0.0108	7.22e-05	0	6.544e-05	0	0	0	0.0034	7.351e-05	0	0.0145	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.026	0.20792	B	0.000153	0.49130	D	0.178889	0.689164	0.33309	D	0.755	0.19153	N	0.37	0.57729	T	-0.09	0.08340	N	0.13	0.12484	-1.0081	0.27510	T	0.076	0.30522	T	10	0.0063791275	0.00144	T	.	.	.	0.094	0.27141	.	.	0.319970858106	0.31615	0.6738670218785657	0.67324	0.141389581085	0.15943	0.596584022045	0.52422	T	0.085738	0.37569	T	-0.423821	0.01618	T	-0.36989	0.36902	T	0.0358673044877379	0.02957	T	0.889011	0.61998	D	0.10377086	0.24529	0.16555831	0.38294	0.10377086	0.24529	0.16555831	0.38293	-5.956	0.45909	T	.	.	0.155	0.34205	B	.	.	3.074346	0.41339	21.3	0.27446281871379524	0.01363	0.73814	0.36105	D	AEFDBI	0.382196	0.46417	N	-0.286664669613745	0.29663	1.646946	-0.050988463508262	0.37448	2.192712	0.0920350723014115	0.16149	0.516011	0.20929	0	0.610034	0.51514	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.05	5.05	0.67566	4.173000	0.58043	9.822000	0.81809	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.1736:0.8264:0.0	12.091	0.53028	716	0.55970	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	346.98	37	chr17	4449297	.	G	C	346.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.403;DP=1038;ExcessHet=0.0000;FS=2.069;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.08;ReadPosRankSum=0.138;SOR=0.634	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,120,1800	20	0	1	0
chr17	4486464	4486464	G	A	exonic	SPNS3	.	nonsynonymous SNV	SPNS3:NM_001320449:exon10:c.G950A:p.R317H	.	.	426	1095	1	0	0	1	0.000456413	.	.	2444254	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.53	T	0.05	B	0.024	B	0.009	N	1.000	N	1.07	L	2.45	T	-1.022	T	0.041	T	0.229	2.490	14.29	3.6	0.936	0.910	9.950	0.045	0.00624551636933	.	.	1.677e-05	0	0	0	0	1.531e-05	0	6.154e-05	1.29e-05	2	154602	rs61734113	3.218e-05	3.352e-05	2.725e-05	3.716e-05	0.0005	2.48e-05	2.222e-05	0.0001	7.843e-05	8.962e-05	0	0	0	0	0.0005	1.619e-05	0.0001	0.0002	2.628e-05	2.626e-05	2.569e-05	2.689e-05	6.541e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	6.541e-05	0	0	0	0.0032	2.94e-05	0	0	0.55	0.06585	T	0.557	0.09205	T	0.003	0.11197	B	0.002	0.06944	B	0.009297	0.30429	N	0.342195	0.999954	0.19781	N	0.72	0.18721	N	2.45	0.15028	T	-1.42	0.34992	N	0.221	0.24758	-1.0220	0.23063	T	0.041	0.17700	T	10	0.12913272	0.24567	T	0.006246	0.16376	T	0.045	0.12272	0.53	0.63707	0.0611884634855	0.05136	0.22363989207585208	0.22278	0.161629918898	0.18244	0.485845714808	0.36863	T	0.023047	0.17662	T	-0.399275	0.02340	T	-0.607708	0.12172	T	0.0656390083699259	0.08026	T	0.335566	0.07155	T	0.04461289	0.07163	0.054962017	0.09551	0.04461289	0.07162	0.054962017	0.09550	-3.671	0.18891	T	.	.	0.074	0.05103	B	.	.	2.770857	0.36367	20.2	0.96004234005976796	0.28425	0.50617	0.28704	D	AEFDBHIJ	0.280011	0.39393	N	-0.618412577386559	0.18390	0.9544529	-0.478377867757737	0.22751	1.237242	0.999958534768847	0.48110	0.517182	0.21443	0	0.626922	0.53725	0	0.478664	0.07449	1	0.567892	0.33627	0	.	.	4.78	3.6	0.40374	1.181000	0.31626	5.162000	0.47795	-0.165000	0.11486	1.000000	0.71638	1.000000	0.68203	0.383000	0.26402	0.0:0.0:0.4816:0.5184	9.950	0.40802	828	0.39726	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	892.98	64	chr17	4486464	.	G	A	892.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.640;DP=751;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=-1.102e+00;SOR=0.580	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1244	20	0	1	0
chr17	4543119	4543119	G	A	exonic	MYBBP1A	.	nonsynonymous SNV	MYBBP1A:NM_001105538:exon20:c.C2686T:p.R896C	.	.	.	.	.	.	.	.	.	.	.	3316038	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.022	B	0.004	B	0.064	N	1.000	N	0.255	N	-0.31	T	-0.965	T	0.129	T	0.461	2.330	13.75	-7.59	-1.782	-0.781	7.040	0.214	0.0280449155429	.	.	0.0001	0	0.0003	0	0	4.817e-05	0	0.0006	9.7e-05	15	154602	rs767507272	5.412e-05	5.404e-05	3.953e-05	6.887e-05	0.0003	4.417e-05	4.089e-05	0.0002	0.0002	0	0.0003	0	5.042e-05	0	0.0003	3.329e-05	4.973e-05	0.0003	3.94e-05	3.937e-05	5.14e-05	2.685e-05	0.0004	1.714e-05	1.129e-05	7.287e-05	3.028e-05	0	0	0.0001	0	0	0	0	2.941e-05	0	0.0004	0.183	0.21884	T	0.178	0.29639	T	0.022	0.18677	B	0.004	0.10090	B	0.063947	0.02172	N	1.909800	1	0.08975	N	0.785	0.19527	N	-0.31	0.68030	T	-0.73	0.20576	N	0.154	0.15888	-0.9652	0.38171	T	0.129	0.43726	T	10	0.052520275	0.05299	T	0.028045	0.50780	D	0.214	0.50650	0.452	0.51448	0.546000776237	0.54254	0.2255264411711185	0.22467	.	.	0.274867087603	0.06787	T	0.064117	0.32352	T	-0.301077	0.08558	T	-0.354096	0.38735	T	0.0173977334052324	0.00477	T	0.677032	0.28590	T	0.055301618	0.10729	0.03301203	0.02128	0.055301618	0.10729	0.03301203	0.02128	-7.002	0.54187	T	.	.	0.105	0.19276	B	.;.	.;.	1.354241	0.17625	13.27	0.9383797012298003	0.23829	0.12329	0.17202	N	AEFDBCI	0.062226	0.11948	N	-1.31507577748599	0.03502	0.156539	-1.40514710758318	0.03200	0.148791	0.907501409508204	0.26261	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.91	-7.59	0.01167	-0.377000	0.07513	0.485000	0.18844	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4685:0.2369:0.2946:0.0	7.040	0.24192	779	0.47767	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	913.98	37	chr17	4543119	.	G	A	913.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.420e-01;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.44;ReadPosRankSum=0.092;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr17	4543158	4543158	G	T	exonic	MYBBP1A	.	nonsynonymous SNV	MYBBP1A:NM_001105538:exon20:c.C2647A:p.L883M	.	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	1.0	D	0.000	D	0.997	D	2.175	M	-0.48	T	-0.017	T	0.488	T	0.604	4.689	25.9	4.94	1.513	2.857	10.944	0.495	.	.	0.00479233	0.0024	0	9.173e-05	0	0	1.689e-05	0	0.0170	0.0019146	296	154602	rs375427927	0.0011	0.0011	0.0006	0.0015	0.0161	0.0010	0.0010	0.0154	0.0151	3e-05	0	0	0	0	0.0016	8.124e-05	0.0012	0.0161	0.0006	0.0006	0.0004	0.0009	0.0195	0.0005	0.0005	0.0163	0.0151	4.808e-05	0	0	0	0	0	0	4.41e-05	0	0.0195	0.01	0.58626	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000024	0.55875	D	0.071589	0.99712	0.43648	D	2.08	0.57402	M	-0.48	0.70249	T	-1.49	0.36385	N	0.447	0.49420	-0.0167	0.81907	T	0.488	0.80496	T	10	0.010604382	0.00235	T	.	.	.	0.495	0.78036	0.621	0.75576	0.946356712301	0.94579	0.35217341213706815	0.35131	.	.	0.495547831059	0.38208	T	0.072581	0.34489	T	-0.277236	0.10964	T	-0.158033	0.58529	T	0.0833887323889234	0.10415	T	0.730627	0.34608	T	0.26152217	0.49211	0.18654577	0.41833	0.26152217	0.49211	0.18654577	0.41832	-9.503	0.70989	D	.	.	0.530	0.65916	A	.;.	.;.	3.560736	0.50099	22.9	0.99630471812760102	0.76020	0.92000	0.54724	D	AEFDBCI	0.501297	0.53419	D	0.622463866891643	0.74596	6.159823	0.589509556848684	0.74186	6.094463	0.997980605205088	0.36275	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.91	4.94	0.64645	2.729000	0.46998	1.250000	0.25164	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.718000	0.34707	0.0858:0.0:0.9142:0.0	10.944	0.46501	779	0.47767	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	733.98	37	chr17	4543158	.	G	T	733.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.285e+00;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=1.93;SOR=0.857	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr17	4552616	4552616	G	A	exonic	MYBBP1A	.	nonsynonymous SNV	MYBBP1A:NM_001105538:exon6:c.C572T:p.A191V	.	.	423	1093	6	0	0	6	0.00273723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.015	B	0.015	B	0.109	N	1.000	N	1.61	L	0.97	T	-1.027	T	0.090	T	0.338	2.114	13.02	3.76	0.873	3.643	8.593	0.067	0.0118972905183	0.0005	0.000998403	0.0012	0.0003	0.0010	0	0	0.0011	0.0011	0.0034	0.0010931	169	154602	rs138754898	0.0008	0.0008	0.0006	0.0009	0.0157	0.0007	0.0007	0.0131	0.0121	0.0001	0.0007	0.0091	2.52e-05	0	0.0157	0.0003	0.0015	0.0030	0.0008	0.0008	0.0008	0.0009	0.0035	0.0007	0.0007	0.0022	0.0018	2.406e-05	0	0.0018	0.0104	0.0002	0	0.0034	0.0006	0.0014	0.0035	0.084	0.32929	T	0.045	0.49390	D	0.012	0.17086	B	0.009	0.17295	B	0.109271	0.19492	N	0.575167	1	0.08975	N	1.83	0.48079	L	0.97	0.42502	T	-1.49	0.36385	N	0.239	0.26957	-1.0272	0.21363	T	0.090	0.34573	T	10	0.0059212744	0.00133	T	0.011897	0.29978	T	0.067	0.19503	.	.	0.568572517066	0.56521	0.1526008540299817	0.15182	.	.	0.278889238834	0.07337	T	0.031852	0.22228	T	-0.458036	0.01011	T	-0.433134	0.29580	T	0.0108225124619509	0.00154	T	0.685131	0.29365	T	0.047382046	0.08088	0.048845947	0.07339	0.047382046	0.08088	0.048845947	0.07339	-5.277	0.39714	T	.	.	0.098	0.16054	B	.;.	.;.	1.638907	0.20919	14.97	0.98605821018212869	0.43572	0.75451	0.36943	D	AEFBCI	0.162185	0.28833	N	-0.441738241851715	0.24021	1.294126	-0.399210175550988	0.25021	1.373542	0.999548813669669	0.40300	0.719381	0.83141	0	0.723133	0.82719	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.78	3.76	0.42368	3.251000	0.51154	5.076000	0.47223	0.654000	0.53741	0.911000	0.31706	0.977000	0.30130	0.008000	0.08271	0.0776:0.0:0.7712:0.1512	8.593	0.32858	749	0.51929	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	595.98	38	chr17	4552616	.	G	A	595.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.346e+00;DP=761;ExcessHet=0.0000;FS=1.272;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=0.808;SOR=0.489	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr17	4554215	4554215	C	G	exonic	MYBBP1A	.	nonsynonymous SNV	MYBBP1A:NM_001105538:exon3:c.G358C:p.D120H	.	.	418	1082	21	1	0	23	0.0105167	.	.	2814743	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.08	T	0.942	P	0.787	P	0.210	N	1.000	N	1.5	L	0.96	T	-1.015	T	0.102	T	0.388	3.297	17.08	0.588	0.074	0.039	8.507	0.103	.	0.0076	0.00199681	0.0078	0.0014	0.0012	0	0.0070	0.0118	0.0066	0.0049	0.0074579	1153	154602	rs142004671	0.0080	0.0080	0.0081	0.0079	0.0109	0.0078	0.0078	0.0088	0.0081	0.0013	0.0012	0.0391	0	0.0058	0.0109	0.0083	0.0085	0.0046	0.0062	0.0062	0.0061	0.0062	0.0085	0.0058	0.0057	0.0079	0.0077	0.0015	0	0.0035	0.0352	0	0.0071	0.0102	0.0085	0.0062	0.0070	0.023	0.49613	D	0.031	0.54159	D	0.928	0.52977	P	0.682	0.57594	P	0.210206	0.16384	N	0.640390	1	0.08975	N	2.24	0.63355	M	0.96	0.42888	T	-1.54	0.37375	N	0.333	0.37405	-1.0151	0.25304	T	0.102	0.37593	T	10	0.0081909	0.00186	T	.	.	.	0.103	0.29403	.	.	0.557519804684	0.55412	0.2207044583696533	0.21985	.	.	0.322130858898	0.13744	T	0.036362	0.24073	T	-0.476759	0.00773	T	-0.449646	0.27737	T	0.0315098894913136	0.02228	T	0.90121	0.65680	D	0.07455327	0.16739	0.09663519	0.22970	0.07455327	0.16739	0.09663519	0.22969	-7.802	0.59713	D	.	.	0.155	0.35098	B	.;.	.;.	2.340211	0.29987	18.30	0.99218316548581387	0.55808	0.45620	0.27579	N	AEFGBI	0.214466	0.33993	N	-0.228159475054488	0.31982	1.798906	-0.382606708469777	0.25515	1.403658	0.999905578868255	0.45458	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.25	0.588	0.16630	0.053000	0.14067	0.090000	0.14504	0.599000	0.40250	0.025000	0.20085	0.000000	0.08366	0.830000	0.39126	0.0:0.4527:0.0:0.5473	8.507	0.32356	744	0.52588	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	796.98	37	chr17	4554215	.	C	G	796.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.373e+00;DP=831;ExcessHet=0.0000;FS=5.121;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.07;ReadPosRankSum=-1.009e+00;SOR=0.284	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr17	4555303	4555303	G	A	exonic	MYBBP1A	.	stopgain	MYBBP1A:NM_001105538:exon1:c.C22T:p.Q8X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	.	.	.	.	0.022	N	0.000	P	.	.	.	.	.	.	.	.	.	8.483	40	4.08	1.325	0.812	13.597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021789	0.26762	N	0.340848	1.08505e-31	0.81001	P	.	.	.	.	.	.	.	.	.	0.584	0.60495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399883	0.89908	D	0.336628	0.89781	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	6.359783	0.95079	34	0.99709785534523143	0.81213	0.14346	0.18354	N	AEFGBHCIJ	0.025419	0.01737	N	0.141900574364266	0.48429	3.055294	-0.202917210802255	0.31431	1.778749	0.999999999999997	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.08	4.08	0.46880	0.383000	0.20381	1.287000	0.25388	-2.041000	0.00424	0.000000	0.06391	0.002000	0.18203	0.000000	0.00833	0.0:0.842:0.158:0.0	13.597	0.61460	744	0.52588	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	13068.37	44	chr17	4555303	.	G	C,A	13068.37	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-5.810e-01;DP=1414;ExcessHet=0.0874;FS=0.000;InbreedingCoeff=0.2929;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=16.27;ReadPosRankSum=0.432;SOR=0.738	GT:AD:DP:GQ:PL	0/0:37,0,0:37:99:0,99,1485,99,1485,1485	14	2	4	0
chr17	4559354	4559354	G	T	exonic	GGT6	.	nonsynonymous SNV	GGT6:NM_001122890:exon3:c.C428A:p.A143D	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.846	P	0.363	B	0.412	N	0.999	D	2.315	M	3.22	T	-1.039	T	0.026	T	0.626	3.903	19.84	1.84	1.290	1.211	3.672	0.240	0.0131299137896	.	.	.	.	.	.	.	.	.	.	.	.	.	rs924122939	5.719e-06	6.156e-06	2.821e-06	8.696e-06	0.0007	2.46e-06	1.78e-06	0.0002	0.0001	0	0	0	0	0	0.0007	1.854e-06	3.448e-05	0	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.038	0.51421	D	0.846	0.46778	P	0.363	0.43280	B	0.411905	0.12985	N	0.730506	0.982553	0.45755	D	3.075	0.87202	M	3.2	0.07236	T	.	.	.	0.791	0.78737	-1.0394	0.17495	T	0.026	0.11353	T	10	0.8338195	0.82540	D	0.01313	0.32289	T	0.240	0.54500	0.856	0.95547	0.488337271218	0.48467	0.737328465584794	0.73677	0.402927746685	0.41237	0.519193768501	0.41513	T	0.005599	0.05051	T	-0.0842154	0.39028	T	-0.358746	0.38198	T	0.750708699226379	0.43324	D	0.90121	0.65680	D	0.14641279	0.33518	0.1431635	0.34033	0.14641279	0.33518	0.1431635	0.34032	-7.108	0.54818	T	.	.	0.370	0.61083	A	.;.;.	.;.;.	3.679886	0.52371	23.2	0.99575684748421844	0.72682	0.21169	0.21306	N	AEFDBI	0.124507	0.24059	N	0.154993074601818	0.49049	3.109689	0.118056553088479	0.45473	2.809804	0.998992258721176	0.38161	0.486886	0.10167	0	0.547309	0.14657	0	0.578056	0.29568	0	0.478617	0.07155	0	.	.	5.07	1.84	0.24348	1.605000	0.36426	6.577000	0.55985	0.676000	0.76740	0.916000	0.31843	1.000000	0.68203	0.910000	0.44547	0.2044:0.0:0.5998:0.1958	3.672	0.07814	735	0.53711	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1304.98	34	chr17	4559354	.	G	T	1304.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.523;DP=860;ExcessHet=0.0000;FS=0.680;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.81;ReadPosRankSum=-5.090e-01;SOR=0.809	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1126	20	0	1	0
chr17	4632014	4632014	G	A	exonic	ALOX15	.	nonsynonymous SNV	ALOX15:NM_001140:exon13:c.C1684T:p.R562W,	.	.	419	1101	2	0	0	2	0.000907441	.	.	2342363	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.995	D	0.789	P	0.000	D	0.904	D	3.47	M	-1.68	D	0.563	D	0.693	D	0.765	3.180	16.64	3.32	0.992	0.191	9.133	0.688	0.0149698923733	.	.	0.0001	0	0	0	0	0.0001	0	0.0003	0.00011	17	154602	rs770448397	5.68e-05	5.883e-05	4.766e-05	6.604e-05	0.0003	4.678e-05	4.303e-05	0.0002	0.0002	5.974e-05	8.955e-05	0	2.519e-05	1.881e-05	0	3.598e-05	0.0001	0.0003	0.0001	0.0001	7.709e-05	0.0001	0.0014	7.085e-05	5.743e-05	0.0007	0.0005	7.214e-05	0	0	0	0	0	0	0.0001	0	0.0014	0.015	0.52492	D	0.0	0.92824	D	0.995	0.67487	D	0.789	0.57669	P	0.000001	0.84330	D	0.000000	0.903643	0.36232	D	3.595	0.93690	H	-1.68	0.82897	D	-5.38	0.84954	D	0.618	0.65673	0.563	0.91410	D	0.693	0.89407	D	10	0.8264797	0.81825	D	0.01497	0.35426	T	0.688	0.88632	.	.	0.951619582754	0.95110	0.711132460192828	0.71055	0.284244868856	0.30848	0.589431762695	0.51413	T	0.818279	0.95529	D	0.00341832	0.52125	T	0.0592825	0.74198	D	0.792050778865814	0.45824	D	0.880212	0.59782	D	0.6476789	0.75240	0.61833197	0.77775	0.6476789	0.75241	0.61833197	0.77776	-8.238	0.62680	D	.	.	0.230	0.46261	B	.;.;.	.;.;.	2.948208	0.39226	20.9	0.99901445091141872	0.97350	0.78263	0.38586	D	AEFBI	0.665009	0.63398	D	0.463702798779968	0.64986	4.765844	0.356945296808621	0.58928	4.066504	0.0123904273684382	0.12320	0.51972	0.21558	0	0.588066	0.40923	0	0.735289	0.94003	0	0.542086	0.14980	0	.	.	4.33	3.32	0.37134	0.101000	0.15088	-2.235000	0.04018	0.590000	0.31872	0.884000	0.31069	0.000000	0.08366	0.962000	0.52141	0.0:0.0:0.782:0.218	9.133	0.36018	789	0.46346	Lipoxygenase, C-terminal|Lipoxygenase, C-terminal;Lipoxygenase, C-terminal|Lipoxygenase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1783.98	38	chr17	4632014	.	G	A	1783.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.947e+00;DP=1168;ExcessHet=0.0000;FS=4.410;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.39;ReadPosRankSum=-5.310e-01;SOR=0.384	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1298	20	0	1	0
chr17	4639499	4639499	C	G	exonic	ALOX15	.	nonsynonymous SNV	ALOX15:NM_001140:exon2:c.G268C:p.D90H,	.	.	422	1070	28	2	0	32	0.014733	.	.	729767	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.04	D	0.587	P	0.537	P	0.035	U	1.000	N	1.7	L	-0.09	T	-0.940	T	0.200	T	0.307	2.131	13.08	0.222	-0.184	0.743	1.576	0.179	.	0.0053	0.00439297	0.0061	0.0005	0.0046	0.0002	0.0029	0.0088	0.0045	0.0047	0.0056985	881	154602	rs11568142	0.0063	0.0063	0.0063	0.0063	0.0118	0.0062	0.0062	0.0095	0.0087	0.0012	0.0054	0.0082	2.519e-05	0.0024	0.0118	0.0069	0.0073	0.0055	0.0048	0.0048	0.0051	0.0044	0.0082	0.0045	0.0044	0.0070	0.0066	0.0013	0	0.0082	0.0066	0.0002	0.0012	0.0102	0.0070	0.0047	0.0050	0.022	0.48642	D	0.067	0.44302	T	0.411	0.35101	B	0.537	0.48765	P	0.035034	0.01796	U	192.728000	0.999997	0.08975	N	2.61	0.76335	M	-0.09	0.71307	T	-2.08	0.47514	N	0.251	0.33030	-0.9398	0.42648	T	0.200	0.55569	T	10	0.0054157674	0.00119	T	.	.	.	0.179	0.44899	.	.	0.629801484396	0.62677	0.38774283738889836	0.38689	0.556277365076	0.52292	0.429384231567	0.29124	T	0.329766	0.70003	T	-0.384004	0.02939	T	-0.318681	0.42720	T	0.0358540423604112	0.02955	T	0.379462	0.09138	T	0.16593549	0.36898	0.10653717	0.25632	0.16593549	0.36897	0.10653717	0.25632	-3.081	0.14869	T	.	.	0.108	0.24967	B	.;.;.;.	.;.;.;.	2.306056	0.29514	18.15	0.9841642061978535	0.41234	0.19576	0.20714	N	ALL	0.193755	0.32087	N	-0.601710364320981	0.18893	0.984552	-0.739579658472193	0.15978	0.8430701	0.999983975915351	0.51787	0.685219	0.55550	0	0.552344	0.17405	0	0.674405	0.61402	0	0.63947	0.58350	0	.	.	4.81	0.222	0.14563	0.193000	0.16921	-0.607000	0.08241	0.524000	0.24156	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.1737:0.4755:0.1573:0.1934	1.576	0.02466	769	0.49307	PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 domain;.;PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1214.98	39	chr17	4639499	.	C	G	1214.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=855;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=0.028;SOR=0.690	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr17	4672208	4672210	TCC	-	exonic	PELP1	.	nonframeshift deletion	PELP1:NM_014389:exon16:c.2781_2783del:p.E930del	.	.	343	1175	4	0	0	4	0.00169924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0029	0.00199681	0.0012	0.0018	0.0092	0.0015	0	0.0010	0.0047	0.0008	0.0001537	4	26028	rs536642900	0.0010	0.0010	0.0010	0.0010	0.0075	0.0009	0.0009	0.0057	0.0050	0.0010	0.0016	0.0015	0.0019	0.0005	0.0075	0.0009	0.0009	0.0013	0.0012	0.0012	0.0012	0.0011	0.0037	0.0010	0.0010	0.0024	0.0020	0.0017	0	0.0007	0.0012	0.0037	0.0003	0	0.0008	0.0019	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	850.94	45	chr17	4672207	.	TTCC	T	850.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.750e+00;DP=841;ExcessHet=0.0000;FS=2.388;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.69;ReadPosRankSum=1.48;SOR=0.869	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,105,1575	20	0	1	0
chr17	4674894	4674894	G	A	exonic	PELP1	.	nonsynonymous SNV	PELP1:NM_014389:exon12:c.C1337T:p.A446V	.	.	414	1105	3	0	0	3	0.00135563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.908	P	0.377	B	0.000	D	0.988	N	0.345	N	1.51	T	-1.011	T	0.077	T	0.604	1.040	9.249	5.19	2.705	4.755	16.252	0.209	0.0117089123032	.	.	0.0001	0	8.646e-05	0	0	4.508e-05	0	0.0005	8.41e-05	13	154602	rs773234059	6.158e-05	6.156e-05	3.268e-05	9.078e-05	0.0017	5.096e-05	4.716e-05	0.0009	0.0007	2.987e-05	4.472e-05	0	0	0	0.0017	1.529e-05	4.969e-05	0.0007	2.63e-05	2.627e-05	2.57e-05	2.693e-05	0.0004	8.15e-06	5.14e-06	7.29e-05	3.029e-05	0	0	0	0	0	0	0	2.941e-05	0	0.0004	0.052	0.39097	T	0.002	0.83351	D	0.908	0.50127	P	0.377	0.43762	B	0.000108	0.50451	D	0.136000	0.987698	0.24490	N	0.805	0.20218	L	0.91	0.44856	T	-1.51	0.36787	N	0.696	0.70175	-1.0111	0.26573	T	0.077	0.30767	T	10	0.51496845	0.62313	D	0.011709	0.29605	T	0.209	0.49871	.	.	0.463397627057	0.45963	0.6838945383333682	0.68328	0.537372367957	0.51041	0.565545856953	0.48049	T	0.024672	0.18600	T	-0.33885	0.05468	T	-0.353425	0.38812	T	0.0784600561480795	0.09790	T	0.887511	0.61533	D	0.08512955	0.19735	0.14361331	0.34125	0.08512955	0.19735	0.14361331	0.34124	-6.639	0.51350	T	.	.	0.293	0.52418	B	.;.;.;.	.;.;.;.	3.093073	0.41652	21.4	0.93187519780163264	0.22851	0.89661	0.50269	D	AEFDBI	0.503054	0.53520	D	0.133738260230833	0.48043	3.021682	0.165159127304959	0.47952	3.017766	0.996158970414557	0.34559	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	4.159000	0.57939	11.771000	0.95863	0.676000	0.76740	0.973000	0.34540	1.000000	0.68203	0.008000	0.08271	0.0:0.0:1.0:0.0	16.252	0.82316	778	0.48011	Uncharacterised domain NUC202;Uncharacterised domain NUC202;Uncharacterised domain NUC202;Uncharacterised domain NUC202	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2183.98	36	chr17	4674894	.	G	A	2183.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.730e-01;DP=953;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.48;ReadPosRankSum=0.843;SOR=0.734	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr17	4734641	4734641	G	A	exonic	CXCL16	.	nonsynonymous SNV	CXCL16:NM_001100812:exon5:c.C787T:p.H263Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.002	B	0.062	N	1.000	N	0.55	N	1.49	T	-1.052	T	0.037	T	0.102	-0.745	0.831	-1.41	-0.238	-0.839	3.377	0.035	0.00249081080468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	0.09543	T	0.245	0.24054	T	.	.	.	.	.	.	0.062123	0.02152	N	2.026200	1	0.08975	N	.	.	.	1.49	0.31470	T	-1.57	0.37955	N	0.118	0.10769	-1.0523	0.13763	T	0.037	0.16073	T	10	0.09896624	0.17929	T	0.002491	0.04953	T	0.035	0.08770	.	.	0.215869574891	0.21205	0.08197772876697215	0.08132	0.201043316276	0.22505	0.352259367704	0.18254	T	.	.	.	-0.325057	0.06492	T	-0.704698	0.05573	T	0.176730662584305	0.19027	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.12418	B	.;.	.;.	-0.430166	0.02102	0.198	0.39003313352059543	0.02665	0.00966	0.03700	N	AEFBI	0.055780	0.10258	N	-1.48292221915812	0.01970	0.08651874	-1.52355436854799	0.02164	0.09909962	0.999679580813729	0.41644	0.660377	0.49826	0	0.610034	0.51514	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	3.19	-1.41	0.08473	-0.828000	0.04526	-0.315000	0.10009	-0.127000	0.13314	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3957:0.2076:0.3967:0.0	3.377	0.06819	529	0.73716	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1203.98	50	chr17	4734641	.	G	A	1203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.790e-01;DP=1148;ExcessHet=0.0000;FS=5.939;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.86;ReadPosRankSum=-1.900e-02;SOR=0.980	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,117,1522	20	0	1	0
chr17	4815870	4815870	G	A	exonic	PLD2	.	nonsynonymous SNV	PLD2:NM_001243108:exon14:c.G1391A:p.R464H	.	.	.	.	.	.	.	.	.	.	.	2685111	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	4.24	H	1.49	T	0.029	D	0.348	T	0.912	5.598	35	5.58	2.619	9.344	17.039	0.678	0.0310283449266	.	.	4.119e-05	0	0	0.0006	0	0	0	0	3.23e-05	5	154602	rs756122541	1.573e-05	1.573e-05	9.529e-06	2.2e-05	0.0002	1.048e-05	8.75e-06	2.003e-05	1.055e-05	0	4.472e-05	0	7.557e-05	0	0.0002	1.169e-05	3.311e-05	2.319e-05	6.574e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.15	0.97575	H	1.49	0.31470	T	-4.8	0.80682	D	0.95	0.96416	0.029	0.82821	D	0.348	0.71233	T	10	0.8933666	0.88685	D	0.031028	0.53207	D	0.678	0.88157	0.745	0.87654	0.771303993577	0.76920	0.9127612403108034	0.91250	0.687788100732	0.60400	0.581966400146	0.50362	T	0.659612	0.89769	D	0.0804424	0.62092	D	0.186641	0.82377	D	0.992595136165619	0.83115	D	0.997542	0.99003	D	0.94005436	0.95253	0.84840536	0.91397	0.94005436	0.95253	0.84840536	0.91398	-11.283	0.81188	D	.	.	0.958	0.87815	P	.;.	.;.	5.791967	0.93574	33	0.99947436024254255	0.99913	0.98542	0.83898	D	AEFDBCI	0.930642	0.91824	D	1.12920439655086	0.98640	18.88125	1.03535382459125	0.99200	21.18876	0.999999972744073	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	9.901000	0.98623	11.820000	0.97208	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	17.039	0.86358	447	0.79583	Phospholipase D/Transphosphatidylase|Phospholipase D/Transphosphatidylase|Phospholipase D/Transphosphatidylase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1370.98	39	chr17	4815870	.	G	A	1370.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.680e-01;DP=899;ExcessHet=0.0000;FS=1.423;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.88;ReadPosRankSum=-8.610e-01;SOR=0.897	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr17	4817149	4817149	A	G	exonic	PLD2	.	nonsynonymous SNV	PLD2:NM_001243108:exon17:c.A1705G:p.T569A	.	.	419	1085	18	0	0	18	0.00822669	.	.	755916	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.5	T	0.013	B	0.026	B	0.000	D	0.692	N	1.875	L	1.98	T	-1.054	T	0.050	T	0.179	1.568	11.20	4.48	1.880	2.469	11.750	0.068	0.00592412599397	0.0007	0.00199681	0.0019	0.0005	0.0007	0	0.0041	0.0012	0.0033	0.0067	0.0017788	275	154602	rs137971062	0.0016	0.0017	0.0015	0.0018	0.0090	0.0016	0.0016	0.0071	0.0064	0.0001	0.0007	0.0035	0	0.0051	0.0090	0.0011	0.0027	0.0060	0.0014	0.0014	0.0013	0.0015	0.0060	0.0013	0.0012	0.0043	0.0037	0.0002	0	0.0016	0.0040	0	0.0049	0.0034	0.0012	0.0019	0.0060	0.444	0.09155	T	0.619	0.09555	T	0.001	0.07471	B	0.003	0.08700	B	0.000298	0.46274	D	0.223486	0.692358	0.30179	N	0.895	0.22405	L	1.98	0.31205	T	-0.52	0.16187	N	0.188	0.20528	-1.0537	0.13386	T	0.050	0.21339	T	10	0.008443952	0.00191	T	0.005924	0.15430	T	0.068	0.19811	.	.	0.465294738428	0.46155	0.3430681418602734	0.34219	0.135075783952	0.15223	0.470530569553	0.34753	T	0.047517	0.27747	T	-0.54391	0.00317	T	-0.551593	0.17174	T	0.0108779694914474	0.00155	T	0.69563	0.30512	T	0.13185768	0.30721	0.072045706	0.15499	0.13185768	0.30721	0.072045706	0.15498	-5.461	0.41502	T	.	.	0.067	0.04558	B	.;.;.	.;.;.	2.943240	0.39137	20.9	0.95190821469706288	0.26372	0.82474	0.41696	D	AEFBI	0.279556	0.39358	N	-0.175559590233012	0.34153	1.946061	-0.0383187549246351	0.37999	2.232655	4.46765553341721E-4	0.07004	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.48	4.48	0.53973	2.128000	0.41668	11.229000	0.90032	0.756000	0.94297	0.979000	0.35152	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	11.750	0.51108	447	0.79583	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4411.11	36	chr17	4817149	.	A	G	4411.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.54;DP=1061;ExcessHet=0.1072;FS=12.164;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=1.90;SOR=0.920	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1382	19	0	2	0
chr17	4891691	4891691	G	A	exonic	MINK1	.	nonsynonymous SNV	MINK1:NM_001024937:exon16:c.G1916A:p.R639H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.98	D	0.586	P	0.000	D	0.938	D	1.65	L	0.98	T	-0.927	T	0.068	T	0.376	4.739	26.5	4.06	1.351	5.145	10.973	0.117	.	0.0002	0.00419329	0.0029	0.0004	0	0.0391	0	5.175e-05	0	0	0.0015912	246	154602	rs146578027	0.0007	0.0008	0.0008	0.0007	0.0254	0.0007	0.0007	0.0241	0.0236	6.006e-05	0	0	0.0254	0	0.0002	4.516e-05	0.0004	4.743e-05	0.0008	0.0008	0.0008	0.0008	0.0220	0.0007	0.0006	0.0187	0.0175	0	0	6.532e-05	0	0.0220	0	0	2.941e-05	0.0005	0	0.001	0.78490	D	0.096	0.53788	T	0.967	0.59353	D	0.382	0.50343	B	0.000008	0.62929	D	0.066050	0.938287	0.37220	D	1.935	0.51832	L	0.98	0.42122	T	-3.2	0.67014	D	0.389	0.44283	-0.9269	0.44588	T	0.068	0.28047	T	10	0.005124986	0.00111	T	.	.	.	0.117	0.32689	.	.	0.481242225458	0.47752	0.3654175392797413	0.36455	0.631458013218	0.57104	0.599954366684	0.52897	T	0.308843	0.68091	T	-0.414757	0.01849	T	-0.346234	0.39636	T	0.0866891922846921	0.10821	T	0.941106	0.79334	D	0.24080212	0.46988	0.3011381	0.56146	0.24080212	0.46988	0.3011381	0.56145	-3.942	0.29625	T	.	.	0.151	0.33504	B	.;.;.	.;.;.	4.736414	0.76341	26.5	0.99942386616050749	0.99824	0.94788	0.62331	D	AEFDBHCI	0.652803	0.62606	D	0.406493152112954	0.61779	4.383682	0.409517496872003	0.62156	4.426513	0.999896888240931	0.45129	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.02	4.06	0.46572	3.738000	0.54788	7.475000	0.59195	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0906:0.0:0.9094:0.0	10.973	0.46662	248	0.90287	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1004.98	34	chr17	4891691	.	G	A	1004.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.682e+00;DP=797;ExcessHet=0.0000;FS=0.853;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.96;ReadPosRankSum=-9.980e-01;SOR=0.538	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1170	20	0	1	0
chr17	4892467	4892467	C	T	exonic	MINK1	.	nonsynonymous SNV	MINK1:NM_001024937:exon18:c.C2093T:p.P698L	.	.	398	1123	0	1	0	2	0.00088968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.673	P	0.373	B	0.021	N	1.000	D	0.55	N	-0.8	T	-0.494	T	0.263	T	0.284	3.294	17.07	5.1	2.651	0.672	13.878	0.154	0.0666847153902	.	.	.	.	.	.	.	.	.	.	.	.	.	rs758013494	7.074e-07	6.84e-07	1.399e-06	0	2.734e-05	0	0	.	.	0	0	0	2.734e-05	0	0	0	0	0	1.315e-05	1.313e-05	0	2.692e-05	4.828e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	0	0	0	0.01	0.56456	D	0.091	0.40110	T	0.544	0.41222	P	0.206	0.43650	B	0.020860	0.26953	N	0.321070	0.989986	0.81001	D	0.69	0.16971	N	-0.8	0.74053	T	-1.05	0.27463	N	0.351	0.39254	-0.4941	0.68861	T	0.263	0.63426	T	10	0.20135257	0.36215	T	0.066685	0.69947	D	0.154	0.40340	.	.	0.515658035153	0.51206	0.2153854651633728	0.21454	0.166182025418	0.18754	0.565559744835	0.48051	T	0.040701	0.25615	T	-0.0345478	0.46752	T	-0.287402	0.46042	T	0.616253793239594	0.37053	D	0.914509	0.69499	D	0.0821009	0.18898	0.0758876	0.16754	0.0821009	0.18898	0.0758876	0.16754	-5.139	0.39064	T	.	.	0.069	0.08657	B	.;.	.;.	3.741175	0.53572	23.4	0.99774708045192639	0.86260	0.52407	0.29124	D	AEFBCI	0.199372	0.32618	N	0.137428487835915	0.48216	3.036841	0.258611344770927	0.53139	3.484504	0.999944862872278	0.47345	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.1	5.1	0.68917	2.359000	0.43797	5.907000	0.50968	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	13.878	0.63168	250	0.90192	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1359.98	46	chr17	4892467	.	C	T	1359.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.649;DP=924;ExcessHet=0.0000;FS=4.314;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.62;ReadPosRankSum=-3.000e-01;SOR=1.124	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1188	20	0	1	0
chr17	4895703	4895703	A	G	exonic	MINK1	.	nonsynonymous SNV	MINK1:NM_015716:exon26:c.A3124G:p.R1042G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.948	P	0.654	P	0.000	D	0.992	D	0.345	N	-0.74	T	-0.528	T	0.268	T	0.607	3.749	19.03	3.91	0.887	5.808	9.993	0.490	0.0740547936127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.948	0.53620	P	0.584	0.52604	P	0.000000	0.84330	D	0.051621	0.991961	0.41520	D	0.895	0.22405	L	-0.74	0.73311	T	-4.51	0.78222	D	0.544	0.57092	-0.5282	0.67609	T	0.268	0.63992	T	10	0.49572483	0.61254	T	0.074055	0.71944	D	0.490	0.77720	0.542	0.65446	0.821480214467	0.81979	0.6303397151703891	0.62967	1.76673974356	0.91213	0.740773916245	0.73086	T	0.226658	0.59174	T	0.0873216	0.62887	D	-0.112345	0.62424	T	0.974778771400452	0.70650	D	0.959504	0.84742	D	0.7676363	0.81906	0.6882835	0.81663	0.7676363	0.81908	0.6882835	0.81664	-11.193	0.80706	D	.	.	0.796	0.80365	P	.;.;.	.;.;.	4.884760	0.80143	27.3	0.99781529932299362	0.86780	0.94826	0.62463	D	AEFBCI	0.883617	0.81267	D	0.208448011284307	0.51608	3.340685	0.273896743332265	0.54018	3.568352	0.999708770743398	0.41986	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.02	3.91	0.44383	5.978000	0.70187	5.797000	0.49910	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.8296:0.1704:0.0:0.0	9.993	0.41054	265	0.89590	Citron homology (CNH) domain|Citron homology (CNH) domain|Citron homology (CNH) domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1874.98	34	chr17	4895703	.	A	G	1874.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.47;DP=844;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.89;ReadPosRankSum=-1.116e+00;SOR=0.722	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr17	4933836	4933836	C	T	exonic	GP1BA	.	nonsynonymous SNV	GP1BA:NM_000173:exon2:c.C1232T:p.P411L,	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	.	65	1432	9	3	13	28	0.00521014	.	.	256258	GP1BA-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.18	T	0.997	D	0.849	P	0.061	N	0.977	D	1.62	L	-0.5	T	-0.320	T	0.392	T	0.263	2.640	14.79	4.75	2.181	-0.237	13.233	0.223	0.409234085502	0.0003	0.00179712	0.0011	0	0.0003	0	0	0.0008	0.0013	0.0043	0.0005379	14	26028	rs139921368	0.0007	0.0007	0.0006	0.0009	0.0103	0.0007	0.0007	0.0081	0.0073	3.218e-05	0.0004	0.0062	0	9.22e-05	0.0103	0.0003	0.0012	0.0054	0.0006	0.0007	0.0007	0.0005	0.0043	0.0005	0.0004	0.0028	0.0023	0	0	0.0004	0.0088	0	0.0001	0.0038	0.0005	0.0005	0.0043	0.001	0.78490	D	0.008	0.79402	D	.	.	.	.	.	.	0.060994	0.22206	N	0.231856	0.977361	0.39360	D	1.79	0.46772	L	-0.5	0.70480	T	-2.75	0.58407	D	0.079	0.10198	-0.3202	0.74416	T	0.392	0.74561	T	10	0.007501811	0.00171	T	0.409234	0.93562	D	0.223	0.52023	.	.	0.860402054649	0.85905	0.1318105993614151	0.13106	0.110247832495	0.12439	0.180596113205	0.00099	T	0.525591	0.83488	D	-0.400171	0.02309	T	-0.349068	0.39312	T	0.0561652924732646	0.06551	T	0.882812	0.60417	D	0.07960413	0.18194	0.087891996	0.20460	0.09520517	0.22400	0.0975654	0.23228	-6.348	0.49102	T	0.3752944579353178	0.47036	0.100	0.17232	B	.;.	.;.	0.453327	0.08233	4.973	0.87633912005926262	0.17369	0.34515	0.25086	N	AEFBCI	0.085307	0.17292	N	-0.0820000087491434	0.38183	2.232379	-0.223685744150735	0.30689	1.730123	0.996179405134013	0.34572	0.660377	0.49826	0	0.694456	0.67091	0	0.536957	0.11973	0	0.664235	0.64389	0	.	.	4.75	4.75	0.59954	0.328000	0.19425	-0.427000	0.09246	-0.984000	0.01883	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:1.0:0.0:0.0	13.233	0.59383	393	0.83123	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.05882	5655.15	135	chr17	4933836	.	C	T	5655.15	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-6.400e-01;DP=2479;ExcessHet=0.1128;FS=1.260;InbreedingCoeff=-0.1053;MLEAC=2;MLEAF=0.059;MQ=59.94;MQRankSum=0.071;QD=15.84;ReadPosRankSum=0.802;SOR=0.620	GT:AD:DP:GQ:PL	0/0:149,0:149:99:0,120,1800	15	0	2	4
chr17	4933907	4933923	ACCACCCCAGAGCCCAC	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	.	625	661	31	11	194	247	0.0385455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	36673.09	217	chr17	4933907	.	ACCACCCCAGAGCCCAC	A,*	36673.09	.	AC=11,22;AF=0.262,0.524;AN=42;BaseQRankSum=-2.218e+00;DP=3857;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0101;MLEAC=11,22;MLEAF=0.262,0.524;MQ=59.64;MQRankSum=0.207;QD=13.33;ReadPosRankSum=0.579;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:2,0,134:136:99:.:.:4665,4884,5796,377,479,0	1	2	3	0
chr17	4933915	4933915	A	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	.	1045	137	36	84	220	424	0.426778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	3830.01	217	chr17	4933915	.	A	*,G	3830.01	.	AC=30,4;AF=0.750,0.100;AN=40;BaseQRankSum=1.91;DP=3710;ExcessHet=0.5418;FS=1.062;InbreedingCoeff=-0.0551;MLEAC=31,4;MLEAF=0.775,0.100;MQ=59.65;MQRankSum=0.00;QD=1.56;ReadPosRankSum=0.309;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,134,0:136:99:.:.:4665,377,0,4884,479,5796	0	10	6	1
chr17	4955082	4955082	A	G	exonic	ENO3	.	nonsynonymous SNV	ENO3:NM_001193503:exon5:c.A323G:p.N108S	.	.	0	1521	0	1	0	2	0.00065703	.	.	345098	not_provided|Glycogen_storage_disease_due_to_muscle_beta-enolase_deficiency	MedGen:CN517202|MONDO:MONDO:0013046,MedGen:C2752027,OMIM:612932,Orphanet:99849	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.61	P	0.417	B	0.000	D	1.000	D	3.135	M	1.16	T	-0.283	T	0.325	T	0.332	4.265	22.3	5.7	2.184	9.339	13.951	0.820	0.197166405268	.	.	5.854e-05	0	8.726e-05	0	0	6.085e-05	0	0.0001	5.17e-05	8	154602	rs560867570	6.775e-05	6.772e-05	6.536e-05	7.017e-05	0.0001	5.672e-05	5.263e-05	6.247e-05	4.967e-05	5.975e-05	0.0001	0	5.04e-05	5.655e-05	0	6.656e-05	4.969e-05	0.0001	5.918e-05	5.912e-05	2.571e-05	9.424e-05	0.0002	3.079e-05	2.212e-05	4.766e-05	3.34e-05	0	0	0	0	0	9.436e-05	0	0.0001	0	0.0002	0.001	0.78490	D	0.034	0.53072	D	0.066	0.23586	B	0.166	0.35067	B	0.000001	0.84330	D	0.093758	1	0.81001	D	3.185	0.88900	M	0.14	0.60854	T	-4.47	0.79399	D	0.942	0.97095	-0.2831	0.75456	T	0.325	0.69358	T	10	0.9407934	0.93405	D	0.197166	0.86522	D	0.820	0.94238	0.905	0.97985	0.855266797399	0.85386	0.7395718772671426	0.73902	0.152353913493	0.17194	0.715498685837	0.69391	T	0.246032	0.85080	T	-0.111979	0.34441	T	-0.195972	0.55029	T	0.473863154649734	0.31672	T	0.874613	0.61095	D	0.82427406	0.85509	0.73314023	0.84230	0.78655624	0.83060	0.72227484	0.83600	-13.652	0.91871	D	0.5348243852972169	0.60523	0.856	0.85993	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.353309	0.66884	25.0	0.99859196954258789	0.93820	0.98282	0.81233	D	AEFBI	0.931404	0.92018	D	0.508175692315531	0.67573	5.099549	0.578837568759923	0.73427	5.968321	0.999999999995524	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.7	5.7	0.88690	9.325000	0.96006	11.283000	0.91806	-0.046000	0.17342	1.000000	0.71638	1.000000	0.68203	0.916000	0.45140	1.0:0.0:0.0:0.0	13.951	0.63628	507	0.75469	Enolase, C-terminal TIM barrel domain;Enolase, C-terminal TIM barrel domain|Enolase, C-terminal TIM barrel domain;Enolase, C-terminal TIM barrel domain|Enolase, C-terminal TIM barrel domain;Enolase, C-terminal TIM barrel domain|Enolase, C-terminal TIM barrel domain;.;.;Enolase, C-terminal TIM barrel domain|Enolase, C-terminal TIM barrel domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	614.98	33	chr17	4955082	.	A	G	614.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.300e-01;DP=749;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=-1.810e-01;SOR=0.684	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1374	20	0	1	0
chr17	4955525	4955525	-	TCA	exonic	ENO3	.	nonframeshift insertion	ENO3:NM_001193503:exon6:c.657_658insTCA:p.S220_P221insS	.	.	0	1514	8	0	0	8	0.00263505	.	.	346463	Glycogen_storage_disease_due_to_muscle_beta-enolase_deficiency	MONDO:MONDO:0013046,MedGen:C2752027,OMIM:612932,Orphanet:99849	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00698882	0.0045	9.61e-05	0.0002	0	0	1.499e-05	0.0077	0.0325	0.0021515	56	26028	rs548538086	0.0021	0.0021	0.0012	0.0030	0.0330	0.0020	0.0020	0.0320	0.0316	2.987e-05	4.472e-05	0	0	0	0.0010	2.878e-05	0.0024	0.0330	0.0011	0.0011	0.0006	0.0016	0.0324	0.0009	0.0009	0.0282	0.0266	4.809e-05	0	0	0	0	0	0	2.94e-05	0.0005	0.0324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4335.94	33	chr17	4955525	.	G	GTCA	4335.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=949;ExcessHet=0.0000;FS=1.031;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.27;ReadPosRankSum=-9.460e-01;SOR=0.610	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1374	20	0	1	0
chr17	4990246	4990246	G	A	exonic	INCA1	.	stopgain	INCA1:NM_001167985:exon4:c.C64T:p.R22X	.	.	432	1066	23	1	0	25	0.0115902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.001	N	1.000	A	.	.	.	.	.	.	.	.	.	8.066	40	4.37	2.723	2.363	12.746	.	.	0.0016	0.000399361	0.0021	0.0004	0.0006	0	0	0.0032	0.0045	0.0018	0.0018887	292	154602	rs149206445	0.0016	0.0016	0.0014	0.0017	0.0043	0.0015	0.0015	0.0030	0.0026	0.0001	0.0008	0.0432	0	7.491e-05	0.0043	0.0006	0.0041	0.0021	0.0017	0.0017	0.0018	0.0016	0.0027	0.0015	0.0015	0.0016	0.0013	0.0002	0	0.0009	0.0439	0	9.429e-05	0.0034	0.0009	0.0043	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	0.001109	0.40219	N	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.319	0.38950	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264431	0.79938	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive;Recessive	.;.;High;High	8.892603	0.98170	39	0.99601299692398826	0.74219	0.75325	0.36875	D	AEFDGBI	0.106746	0.21289	N	0.772409359333503	0.84354	8.264534	0.622320849957029	0.76565	6.514363	0.999999447789297	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.636168	0.56350	0	.	.	4.37	4.37	0.51830	2.384000	0.44017	6.006000	0.52567	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	12.746	0.56658	557	0.71576	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1075.98	46	chr17	4990246	.	G	A	1075.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.54;DP=861;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.62;ReadPosRankSum=-5.250e-01;SOR=0.756	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,111,1665	20	0	1	0
chr17	5003999	5003999	A	C	exonic	KIF1C	.	nonsynonymous SNV	KIF1C:NM_006612:exon11:c.A866C:p.Q289P,	Spastic ataxia 2, autosomal recessive, Autosomal recessive	.	419	1095	8	0	0	8	0.00363967	0.8663	0.626	413453	Spastic_ataxia_2|not_provided|Hereditary_spastic_paraplegia	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302,Orphanet:397946|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.968	D	0.954	D	.	.	1.000	D	1.33	L	-2.4	D	0.594	D	0.736	D	0.689	3.441	17.64	5.66	2.292	6.978	14.148	0.742	0.252099349353	0.0017	0.000599042	0.0012	9.612e-05	0.0003	0	0.0014	0.0019	0.0011	0.0008	0.0010931	169	154602	rs146872023	0.0014	0.0014	0.0014	0.0015	0.0038	0.0014	0.0014	0.0026	0.0022	8.963e-05	0.0003	0.0004	0	0.0006	0.0038	0.0017	0.0012	0.0008	0.0010	0.0011	0.0012	0.0009	0.0020	0.0009	0.0009	0.0017	0.0016	0.0001	0	0.0005	0	0	0.0006	0	0.0020	0.0009	0.0004	0.008	0.58626	D	0.027	0.55341	D	0.968	0.56581	D	0.954	0.69447	D	.	.	.	.	0.999976	0.53665	D	1.935	0.51832	L	-2.4	0.88455	D	-1.96	0.45404	N	0.309	0.34874	0.594	0.91816	D	0.736	0.90966	D	9	0.05489394	0.05915	T	0.252099	0.89158	D	0.742	0.91069	.	.	0.906485554669	0.90554	0.6530642631107064	0.65242	1.02858067895	0.75351	0.691312730312	0.65895	T	0.352681	0.72009	T	-0.120594	0.33026	T	0.0493828	0.73543	D	0.0683233118103087	0.08414	T	0.941606	0.78180	D	0.47949785	0.65870	0.5041443	0.71338	0.47949785	0.65870	0.5041443	0.71338	-3.778	0.20476	T	.	.	0.069	0.02960	B	.	.	4.560608	0.71867	25.7	0.99251680997989944	0.56891	0.99788	0.99470	D	AEFBI	0.958106	0.97769	D	0.673353446299839	0.77888	6.762032	0.692715948714318	0.81826	7.618182	0.999837813979633	0.43792	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	4.026000	0.56942	11.181000	0.88313	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.849000	0.40138	1.0:0.0:0.0:0.0	14.148	0.64899	576	0.70006	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1611.98	34	chr17	5003999	.	A	C	1611.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.730e-01;DP=874;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=-1.788e+00;SOR=0.696	GT:AD:DP:GQ:PL	0/1:70,66:136:99:1626,0,1822	20	0	1	0
chr17	5004971	5004971	C	G	exonic	KIF1C	.	nonsynonymous SNV	KIF1C:NM_006612:exon13:c.C1136G:p.A379G,	Spastic ataxia 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	467921	Hereditary_spastic_paraplegia|Spastic_ataxia_2|not_provided	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302,Orphanet:397946|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.39	T	0.58	P	0.097	B	.	.	0.908	D	0.295	N	-0.84	T	-0.877	T	0.155	T	0.205	2.718	15.05	3.85	1.393	4.720	6.800	0.179	0.0271980553363	0.0003	0.000199681	0.0005	9.615e-05	0.0003	0	0	0.0008	0	0.0004	0.000511	79	154602	rs79290524	0.0005	0.0005	0.0005	0.0005	0.0006	0.0005	0.0005	0.0006	0.0006	5.974e-05	0.0001	0	0	7.489e-05	0.0005	0.0006	0.0005	0.0003	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0005	0.0004	7.214e-05	0	0.0002	0	0	0	0	0.0006	0	0.0004	0.157	0.23997	T	0.193	0.28210	T	0.58	0.38813	P	0.097	0.30390	B	.	.	.	.	0.908234	0.36343	D	0.785	0.19527	N	-0.84	0.74265	T	-3.24	0.65171	D	0.382	0.42345	-0.8768	0.50013	T	0.155	0.48602	T	9	0.0960601	0.17204	T	0.027198	0.50036	D	0.179	0.44899	.	.	0.647812287602	0.64489	0.4777291250190419	0.47692	0.396891306681	0.40796	0.617013990879	0.55307	T	0.470217	0.80343	T	-0.337145	0.05588	T	-0.348612	0.39364	T	0.031666597810806	0.02252	T	0.968503	0.88585	D	0.12378793	0.29058	0.21027271	0.45406	0.12378793	0.29058	0.21027271	0.45405	-8.593	0.65043	D	0.20538150801328234	0.27398	0.152	0.33664	B	.	.	5.829481	0.93732	33	0.99261476353258526	0.57222	0.97885	0.77862	D	AEFBI	0.718675	0.66980	D	-0.0722077896276571	0.38613	2.264338	0.0607617025288496	0.42595	2.579081	0.0311225373759808	0.13984	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.82	3.85	0.43556	4.945000	0.63269	5.917000	0.51107	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.978000	0.57271	0.0:0.7268:0.1788:0.0944	6.800	0.22929	576	0.70006	Kinesin-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	888.98	34	chr17	5004971	.	C	G	888.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.429e+00;DP=822;ExcessHet=0.0000;FS=0.821;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.71;ReadPosRankSum=-2.010e-01;SOR=0.586	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr17	5007041	5007041	C	T	exonic	KIF1C	.	nonsynonymous SNV	KIF1C:NM_006612:exon14:c.C1292T:p.T431M,	Spastic ataxia 2, autosomal recessive, Autosomal recessive	.	429	1087	6	0	0	6	0.00275229	.	.	1336094	Hereditary_spastic_paraplegia|not_provided|Spastic_ataxia_2	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MedGen:C3661900|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302,Orphanet:397946	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.24	T	0.298	B	0.029	B	.	.	1.000	N	0.69	N	-0.71	T	-0.973	T	0.168	T	0.068	0.702	7.745	4.12	1.472	0.900	7.693	0.059	0.0224008324204	7.7e-05	.	0.0001	0	0.0003	0	0	9.08e-05	0.0011	0.0003	9.7e-05	15	154602	rs139663513	0.0001	0.0001	0.0001	0.0001	0.0033	0.0001	9.945e-05	0.0022	0.0018	0	0.0001	0	2.523e-05	0	0.0033	9.819e-05	0.0001	0.0004	9.197e-05	9.187e-05	0.0001	8.062e-05	0.0002	5.526e-05	4.364e-05	9.049e-05	7.013e-05	2.407e-05	0	0	0	0	0	0.0068	0.0002	0	0	0.118	0.28148	T	0.196	0.27943	T	0.298	0.32505	B	0.029	0.21540	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	-0.71	0.72889	T	-0.4	0.13805	N	0.205	0.22742	-0.9730	0.36562	T	0.168	0.50745	T	9	0.08874324	0.15309	T	0.022401	0.45285	T	0.059	0.16972	.	.	0.5866629029	0.58340	0.5779352966844059	0.57722	0.343638259999	0.36290	0.39686447382	0.24632	T	0.10157	0.40846	T	-0.39753	0.02403	T	-0.511242	0.21188	T	0.0226478130366397	0.00981	T	0.783522	0.42019	T	0.022773465	0.00963	0.047048837	0.06690	0.022773465	0.00963	0.047048837	0.06690	-5.492	0.41793	T	0.10897373016393204	0.09046	0.073	0.04517	B	.	.	1.561029	0.19993	14.54	0.96197771557419443	0.29013	0.31848	0.24440	N	AEFGBI	0.142894	0.26546	N	-0.663219848835384	0.17076	0.8756368	-0.664153934951135	0.17860	0.9515361	0.027707098982685	0.13789	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.09	4.12	0.47504	0.879000	0.27783	2.652000	0.33822	0.599000	0.40250	0.001000	0.13787	0.028000	0.21151	0.049000	0.15107	0.0:0.7441:0.1659:0.09	7.693	0.27747	580	0.69689	Kinesin-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	822.98	35	chr17	5007041	.	C	T	822.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.672e+00;DP=758;ExcessHet=0.0000;FS=1.936;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=0.546;SOR=0.468	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1033	20	0	1	0
chr17	5108940	5108940	G	A	exonic	ZNF232	.	nonsynonymous SNV	ZNF232:NM_001320952:exon3:c.C611T:p.P204L	.	.	417	1101	4	0	0	4	0.00181324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.004	B	0.007	B	0.104	N	0.999	D	0.345	N	3.19	T	-0.986	T	0.011	T	0.083	1.773	11.89	2.86	0.902	1.250	5.179	0.094	0.0604894586746	.	0.000998403	0.0006	0	8.637e-05	0	0	0.0002	0	0.0031	0.0004981	77	154602	rs149710317	0.0004	0.0004	0.0003	0.0005	0.0062	0.0004	0.0004	0.0046	0.0041	0	4.472e-05	0.0001	0	0	0.0062	0.0002	0.0005	0.0036	0.0002	0.0002	0.0002	0.0003	0.0048	0.0002	0.0002	0.0033	0.0028	0	0	6.536e-05	0.0003	0	0	0.0034	0.0002	0	0.0048	0.765	0.03431	T	0.366	0.16668	T	.	.	.	.	.	.	0.104292	0.19710	N	0.271355	0.999054	0.45965	D	.	.	.	3.16	0.07711	T	0.62	0.02442	N	0.217	0.24260	-0.9856	0.33687	T	0.011	0.04042	T	10	0.0038862824	0.00074	T	0.060489	0.68019	D	0.094	0.27141	.	.	0.0297737177859	0.01360	0.2777137317567188	0.27684	0.2197955663	0.24518	0.326052337885	0.14337	T	0.003194	0.02596	T	-0.644636	0.00078	T	-0.702429	0.05694	T	0.0388728978443438	0.03488	T	0.468553	0.13811	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30582	B	.;.	.;.	1.653020	0.21087	15.04	0.97580722171742107	0.34736	0.73162	0.35791	D	AEFDBI	0.049833	0.08648	N	-0.661643647908694	0.17122	0.8783616	-0.543791477222628	0.20970	1.132274	0.14231288637056	0.17296	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	3.84	2.86	0.32427	1.611000	0.36490	1.033000	0.23495	0.662000	0.56354	0.343000	0.25700	0.015000	0.20450	1.000000	0.97212	0.1127:0.0:0.6835:0.2038	5.179	0.14477	599	0.68140	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1205.11	34	chr17	5108940	.	G	A	1205.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.370e-01;DP=774;ExcessHet=0.1072;FS=2.393;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.56;ReadPosRankSum=1.29;SOR=0.932	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1134	19	0	2	0
chr17	5137127	5137127	G	A	exonic	USP6	.	nonsynonymous SNV	USP6:NM_004505:exon11:c.G766A:p.E256K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.89	T	0.646	P	0.621	P	0.000	D	1.000	N	1.305	L	1.56	T	-1.016	T	0.065	T	0.261	0.596	7.214	0.046	0.132	-0.012	.	0.103	0.00131799318264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.11478	T	0.19	0.28482	T	0.646	0.40549	P	0.621	0.51426	P	0.000001	0.84330	D	0.094118	1	0.08975	N	1.165	0.29723	L	1.56	0.29602	T	-1.04	0.27259	N	0.112	0.12913	-1.0155	0.25175	T	0.065	0.26807	T	9	0.12221953	0.23181	T	0.001318	0.01860	T	0.103	0.29403	0.607	0.73945	0.401185642668	0.39728	0.4003490902152311	0.39949	0.624851547064	0.56675	0.518446981907	0.41407	T	0.004262	0.03670	T	-0.259796	0.12923	T	-0.610955	0.11908	T	0.635404407978058	0.37843	D	0.772323	0.40326	T	0.1512922	0.34401	0.1494629	0.35289	0.1512922	0.34400	0.1494629	0.35288	-5.883	0.45290	T	.	.	0.118	0.29228	B	.;.	.;.	1.959313	0.24885	16.56	0.96022710991951976	0.28480	0.00319	0.01677	N	AEFBI	0.047518	0.08009	N	-0.894190267116978	0.10980	0.5274662	-1.11379519759152	0.07436	0.3616913	1.65588008074204E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	0.046	0.046	0.13572	-0.987000	0.03854	-2.019000	0.04336	0.139000	0.17671	0.000000	0.06391	0.000000	0.08366	0.121000	0.19209	.	.	.	632	0.64850	Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	977.98	36	chr17	5137127	.	G	A	977.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.81;DP=814;ExcessHet=0.0000;FS=4.122;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=1.69;SOR=1.222	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1323	20	0	1	0
chr17	5141454	5141454	G	A	exonic	USP6	.	nonsynonymous SNV	USP6:NM_004505:exon15:c.G1528A:p.E510K	.	.	470	1049	3	0	0	3	0.00142789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.943	P	0.424	B	0.000	D	1.000	D	0.695	N	2.86	T	-1.083	T	0.030	T	0.465	2.984	15.95	2.63	1.470	9.445	11.015	0.260	.	.	0.00678914	0.0052	9.639e-05	0.0003	0	0	1.502e-05	0	0.0377	0.0043984	680	154602	rs200519817	0.0022	0.0023	0.0012	0.0033	0.0362	0.0021	0.0021	0.0351	0.0347	6.003e-05	4.534e-05	0	0	0	0.0021	1.621e-05	0.0022	0.0362	0.0010	0.0010	0.0004	0.0016	0.0315	0.0009	0.0008	0.0275	0.0259	7.221e-05	0	0	0	0	0	0	1.471e-05	0	0.0315	0.031	0.45039	D	0.076	0.42614	T	0.943	0.53072	P	0.424	0.45210	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.04	0.26193	L	2.86	0.10482	T	-2.07	0.47344	N	0.769	0.76666	-1.0831	0.06758	T	0.030	0.13111	T	10	0.0073063076	0.00166	T	.	.	.	0.260	0.57221	.	.	0.374434639691	0.37057	0.6437212910080405	0.64307	0.322300995781	0.34422	0.877428650856	0.93613	D	0.039165	0.25095	T	-0.45183	0.01102	T	-0.396732	0.33764	T	0.115543554012207	0.13989	T	0.988201	0.95985	D	0.2733315	0.50401	0.2155957	0.46155	0.2733315	0.50401	0.2155957	0.46154	-10.463	0.76634	D	.	.	0.118	0.29806	B	.;.	.;.	4.575809	0.72242	25.8	0.99829518538913098	0.91112	0.97334	0.74095	D	AEFI	0.710640	0.66434	D	0.0792930574085847	0.45498	2.805265	0.0452556945478881	0.41843	2.520651	0.472504257494886	0.20719	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	2.63	2.63	0.30420	9.629000	0.97813	11.650000	0.93875	0.320000	0.19365	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:0.0:1.0:0.0	11.015	0.46901	632	0.64850	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	633.98	35	chr17	5141454	.	G	A	633.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.150;DP=779;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.39;ReadPosRankSum=0.722;SOR=0.709	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1325	20	0	1	0
chr17	5148648	5148648	A	G	exonic	USP6	.	nonsynonymous SNV	USP6:NM_004505:exon22:c.A2524G:p.N842D	.	.	434	1087	0	1	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.998	D	0.991	D	0.000	D	1.000	D	0.925	L	2.95	T	-1.106	T	0.049	T	0.19	2.735	15.11	2.79	1.281	5.399	9.044	0.101	0.00510930226789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	4.084e-06	0	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.17353	T	0.197	0.27855	T	0.992	0.64738	D	0.911	0.64720	D	0.000000	0.84330	D	0.085136	0.961994	0.81001	D	1.955	0.52871	M	2.95	0.09635	T	-1.11	0.28703	N	0.428	0.46742	-1.1059	0.03447	T	0.049	0.21065	T	10	0.34758297	0.51690	T	0.005109	0.12970	T	0.101	0.28911	0.397	0.42426	0.433491693731	0.42969	0.43208448044902825	0.43125	0.327635261049	0.34895	0.62331533432	0.56198	T	0.019876	0.15755	T	-0.207039	0.19797	T	-0.535174	0.18773	T	0.844736099243164	0.49718	D	0.935706	0.75920	D	0.15131202	0.34404	0.20129746	0.44104	0.15131202	0.34404	0.20129746	0.44103	-3.791	0.20670	T	.	.	0.168	0.36947	B	.;.	.;.	4.236159	0.64195	24.7	0.99448158393742359	0.65122	0.91600	0.53868	D	AEFBI	0.655147	0.62758	D	0.151548404535942	0.48885	3.095337	0.0714547553507699	0.43120	2.620437	0.0329471915224461	0.14080	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.59522	0.37078	0	.	.	2.79	2.79	0.31792	5.428000	0.66226	9.337000	0.80183	0.361000	0.20101	1.000000	0.71638	1.000000	0.68203	0.774000	0.36673	1.0:0.0:0.0:0.0	9.044	0.35500	632	0.64850	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	5108.98	33	chr17	5148648	.	A	G	5108.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.591e+00;DP=1132;ExcessHet=0.0000;FS=1.092;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.57;MQRankSum=0.102;QD=12.43;ReadPosRankSum=-5.690e-01;SOR=0.624	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1342	20	0	1	0
chr17	5182162	5182162	G	A	exonic	ZNF594	.	nonsynonymous SNV	ZNF594:NM_032530:exon2:c.C2095T:p.R699W,	.	.	.	.	.	.	.	.	.	.	.	3358024	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.997	D	0.614	P	.	.	1.000	N	1.59	L	2.19	T	-1.060	T	0.059	T	0.183	2.191	13.28	1.04	0.496	-0.154	7.549	0.028	0.00191642926603	.	0.000599042	0.0001	0.0005	0	0	0	0.0001	0	6.056e-05	0.0001358	21	154602	rs200830913	9.577e-05	9.577e-05	8.031e-05	0.0001	0.0003	8.242e-05	7.783e-05	0.0002	0.0001	0.0003	0	0	2.519e-05	0	0.0003	0.0001	3.312e-05	0.0001	0.0001	0.0001	0.0001	0.0001	0.0004	9.778e-05	8.287e-05	0.0002	0.0001	0.0003	0	6.547e-05	0	0	0	0	0.0001	0	0.0004	0.002	0.72154	D	0.005	0.72224	D	0.997	0.70673	D	0.614	0.51198	P	.	.	.	.	1	0.08975	N	1.82	0.47800	L	2.19	0.18724	T	-2.46	0.53736	N	0.124	0.11626	-1.0599	0.11781	T	0.059	0.24723	T	9	0.03743136	0.02097	T	0.001916	0.03377	T	0.028	0.06331	.	.	0.288352970974	0.28455	0.035691615640623155	0.03516	0.0128399478258	0.01236	0.294176548719	0.09535	T	0.122005	0.44537	T	-0.455426	0.01049	T	-0.585988	0.14015	T	0.196108356118202	0.20198	T	0.516748	0.16663	T	0.07388465	0.16541	0.09571942	0.22714	0.07388465	0.16541	0.09571942	0.22713	-6.166	0.47647	T	.	.	0.188	0.40921	B	.;.	.;.	2.780268	0.36519	20.3	0.99665802148351801	0.78266	0.00001	0.00044	N	AEFDBHCI	0.069573	0.13777	N	-0.454142356503482	0.23600	1.26846	-0.70661232679426	0.16795	0.8902042	0.0021353486123597	0.09181	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.567892	0.33627	0	.	.	1.04	1.04	0.19220	0.113000	0.15333	-0.334000	0.09867	-1.069000	0.01598	0.005000	0.17040	0.000000	0.08366	0.000000	0.00833	0.0:0.0:1.0:0.0	7.549	0.26954	528	0.73785	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2056.98	106	chr17	5182162	.	G	A	2056.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.413;DP=1454;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.89;MQRankSum=-7.280e-01;QD=19.41;ReadPosRankSum=-4.000e-02;SOR=0.722	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	20	0	1	0
chr17	5182216	5182216	G	A	exonic	ZNF594	.	stopgain	ZNF594:NM_032530:exon2:c.C2041T:p.Q681X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.960	20.3	-2.28	-0.378	-4.464	3.925	.	.	0.0002	0.000199681	0.0005	0	8.64e-05	0	0	0.0007	0	0.0004	0.0004463	69	154602	rs116878311	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0005	0.0004	2.992e-05	4.472e-05	0	0	5.616e-05	0.0003	0.0005	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0004	0.0003	4.863e-05	0	0.0002	0	0	0	0	0.0005	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.022	0.00618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.100565	0.36330	T	-0.0134814	0.69457	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	6.173861	0.94724	34	0.89574783931259849	0.18914	0.00000	0.00017	N	AEFDBHCI	0.022864	0.01197	N	-0.350848459496767	0.27241	1.493002	-0.825348406352602	0.13882	0.722495	0.00468820378769489	0.10671	0.660377	0.49826	0	0.611049	0.52481	0	0.696353	0.63694	0	0.567892	0.33627	0	.	.	1.14	-2.28	0.06438	-4.652000	0.00234	-20.000000	0.00162	-0.273000	0.06669	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4668:0.2998:0.2334	3.925	0.08759	528	0.73785	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1656.98	105	chr17	5182216	.	G	A	1656.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.643e+00;DP=1508;ExcessHet=0.0000;FS=0.748;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.06;ReadPosRankSum=1.05;SOR=0.847	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	20	0	1	0
chr17	5182675	5182675	G	A	exonic	ZNF594	.	nonsynonymous SNV	ZNF594:NM_032530:exon2:c.C1582T:p.R528C,	.	.	416	1095	11	0	0	11	0.00499773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.005	B	0.001	B	.	.	1.000	N	2.47	M	2.38	T	-1.039	T	0.048	T	0.095	-0.901	0.437	-1.77	-2.113	-2.225	6.109	0.027	.	0.0002	0.00239617	0.0021	0.0001	0.0002	0.0015	0	0.0003	0.0022	0.0131	0.0018111	280	154602	rs181984106	0.0010	0.0010	0.0006	0.0014	0.0123	0.0009	0.0009	0.0117	0.0114	0.0001	0.0002	0.0016	0.0006	0	0.0017	0.0002	0.0009	0.0123	0.0007	0.0007	0.0004	0.0011	0.0142	0.0006	0.0006	0.0115	0.0105	0.0001	0	0.0002	0.0020	0.0020	0	0	0.0002	0.0010	0.0142	0.204	0.20078	T	0.077	0.42436	T	0.005	0.12996	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	2.125	0.59049	M	2.38	0.15843	T	-2.05	0.47008	N	0.119	0.10911	-1.0386	0.17740	T	0.048	0.20315	T	9	0.0056779385	0.00126	T	.	.	.	0.027	0.05988	.	.	0.0611884634855	0.05136	0.01185399629774001	0.01145	0.0116602894049	0.01096	0.260717839003	0.04977	T	0.025758	0.19196	T	-0.705287	0.00034	T	-0.774841	0.02612	T	0.0172182080343287	0.00465	T	0.0840916	0.00618	T	0.0541125	0.10336	0.046411708	0.06463	0.0541125	0.10336	0.046411708	0.06463	-5.578	0.42591	T	.	.	0.171	0.38871	B	.;.	.;.	-0.205010	0.03064	0.477	0.52762488124827112	0.04809	0.00000	0.00017	N	AEFDBHCI	0.026940	0.02113	N	-1.68288348883748	0.00904	0.03913164	-1.87128917732873	0.00557	0.02471769	0.0499553500786941	0.14823	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.567892	0.33627	0	.	.	0.886	-1.77	0.07551	-10.328000	0.00009	-20.000000	0.00162	-4.375000	0.00031	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4474:0.0:0.5526:0.0	6.109	0.19309	527	0.73864	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2197.98	90	chr17	5182675	.	G	A	2197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.99;DP=1391;ExcessHet=0.0000;FS=2.078;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.16;ReadPosRankSum=-6.300e-02;SOR=0.892	GT:AD:DP:GQ:PL	0/0:109,0:109:99:0,120,1800	20	0	1	0
chr17	5183242	5183242	G	A	exonic	ZNF594	.	nonsynonymous SNV	ZNF594:NM_032530:exon2:c.C1015T:p.L339F,	.	.	412	1097	13	0	0	13	0.00589035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.93	P	0.353	B	.	.	1.000	N	1.37	L	2.38	T	-1.055	T	0.025	T	0.261	-0.184	3.106	2.5	1.409	-1.026	7.294	0.030	0.00243117537039	0.0060	0.00219649	0.0053	0.0013	0.0025	0.0003	0.0015	0.0081	0	0.0025	0.0051552	797	154602	rs61750938	0.0073	0.0073	0.0075	0.0072	0.0088	0.0072	0.0072	0.0087	0.0086	0.0015	0.0034	0.0031	5.038e-05	0.0010	0.0085	0.0088	0.0058	0.0022	0.0054	0.0054	0.0057	0.0051	0.0095	0.0051	0.0050	0.0089	0.0086	0.0013	0	0.0051	0.0037	0	0.0006	0	0.0095	0.0057	0.0027	0.309	0.14064	T	0.247	0.23914	T	0.93	0.51791	P	0.353	0.42910	B	.	.	.	.	1	0.08975	N	1.46	0.36832	L	2.38	0.15843	T	-0.99	0.26200	N	0.151	0.15469	-1.0554	0.12934	T	0.025	0.10598	T	9	0.0057618916	0.00128	T	0.002431	0.04785	T	0.030	0.07022	.	.	0.218845423259	0.21516	0.006891149584749604	0.00656	0.081165264027	0.09130	0.304148554802	0.11023	T	0.004572	0.03978	T	-0.609498	0.00128	T	-0.636601	0.09919	T	0.00434465226521206	0.00046	T	0.0162984	0.00091	T	0.041578457	0.06149	0.045703884	0.06207	0.041578457	0.06148	0.045703884	0.06207	-7.403	0.56926	T	.	.	0.135	0.31583	B	.;.	.;.	1.363813	0.17728	13.34	0.98181404821705798	0.38950	0.00002	0.00064	N	AEFDBHCI	0.057530	0.10724	N	-0.488097212630782	0.22471	1.200061	-0.672584434552808	0.17648	0.9393181	0.00387237941805737	0.10318	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	2.5	2.5	0.29355	-2.846000	0.00803	-0.918000	0.06929	-0.126000	0.13398	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2769:0.7231:0.0	7.294	0.25557	523	0.74147	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2310.98	90	chr17	5183242	.	G	A	2310.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=1355;ExcessHet=0.0000;FS=4.349;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=0.628;SOR=1.031	GT:AD:DP:GQ:PL	0/1:95,87:182:99:2325,0,2491	20	0	1	0
chr17	5183877	5183877	T	C	exonic	ZNF594	.	nonsynonymous SNV	ZNF594:NM_032530:exon2:c.A380G:p.Y127C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.14	B	0.072	B	.	.	1.000	N	2.655	M	0.11	T	-0.835	T	0.180	T	0.21	0.185	4.998	-1.52	-0.234	-0.252	2.725	0.110	0.0122887916136	.	.	9.963e-05	0	0	0	0	7.515e-05	0	0.0004	7.76e-05	12	154602	rs753407769	2.738e-05	2.736e-05	1.77e-05	3.714e-05	0.0003	2.063e-05	1.817e-05	0.0002	0.0002	0	0	0	2.52e-05	3.755e-05	0	1.079e-05	1.657e-05	0.0003	1.314e-05	1.313e-05	0	2.689e-05	0.0004	2.18e-06	8.2e-07	7.293e-05	3.03e-05	0	0	0	0	0	0	0	0	0	0.0004	0.017	0.51248	D	0.012	0.63918	D	0.14	0.27540	B	0.072	0.28043	B	.	.	.	.	0.999996	0.08975	N	2.145	0.60081	M	0.11	0.61208	T	-6.8	0.92903	D	0.219	0.25006	-0.8350	0.52976	T	0.180	0.52660	T	9	0.16579181	0.30978	T	0.012289	0.30730	T	0.110	0.31079	0.736	0.86892	0.267299060538	0.26338	0.030747194571744654	0.03023	0.0792629470943	0.08917	0.30556628108	0.11237	T	0.038508	0.24863	T	-0.379828	0.03123	T	-0.472854	0.25209	T	0.0607646429343139	0.07288	T	0.740526	0.35940	T	0.2773988	0.50798	0.32270634	0.58209	0.2773988	0.50798	0.32270634	0.58208	-7.31	0.56267	T	.	.	0.133	0.29615	B	.;.	.;.	3.346065	0.46131	22.2	0.93989672396619528	0.24077	0.00052	0.00397	N	AEFBCI	0.073174	0.14628	N	-0.996148575191334	0.08685	0.4081874	-1.17420190255552	0.06344	0.305052	5.52690174555596E-4	0.07304	0.615465	0.37627	0	0.601575	0.49859	0	0.54472	0.12158	0	0.655142	0.61905	0	.	.	2.39	-1.52	0.08181	-1.224000	0.03068	-0.722000	0.07700	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.2056:0.2866:0.0:0.5079	2.725	0.04888	523	0.74147	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2325.98	42	chr17	5183877	.	T	C	2325.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.54;DP=988;ExcessHet=0.0000;FS=0.579;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.45;ReadPosRankSum=0.315;SOR=0.770	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	20	0	1	0
chr17	5388928	5388928	A	G	exonic	NUP88	.	nonsynonymous SNV	NUP88:NM_001320653:exon11:c.T1517C:p.L506P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	1.0	D	1.0	D	0.000	D	1.000	D	2.28	M	.	.	-0.319	T	0.413	T	0.872	4.192	21.7	5.23	2.333	7.630	14.759	0.476	0.103153819064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.34	0.67151	M	0.81	0.48460	T	.	.	.	0.872	0.86941	-0.3191	0.74447	T	0.413	0.76088	T	9	0.91229177	0.90593	D	0.103154	0.77704	D	.	.	0.775	0.90080	0.858999212624	0.85763	0.8122715505879089	0.81183	0.621333727136	0.56425	0.673113703728	0.63281	T	0.079613	0.36170	T	0.239633	0.77626	D	0.10644	0.77336	D	0.986703562440347	0.77357	D	0.839116	0.51273	T	0.7441625	0.80531	0.80520785	0.88596	0.7441625	0.80533	0.80520785	0.88597	-2.846	0.08615	T	0.8538072349835241	0.91923	0.513	0.65158	A	.	.	4.792699	0.77791	26.8	0.99919340282363955	0.98654	0.96194	0.67967	D	AEFBCI	0.932942	0.92407	D	0.717742083199762	0.80794	7.374214	0.688584955176983	0.81512	7.543958	0.999613958111377	0.40981	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.23	5.23	0.72570	7.674000	0.83146	11.230000	0.90066	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	14.759	0.69210	480	0.77422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	797.98	34	chr17	5388928	.	A	G	797.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.480e-01;DP=759;ExcessHet=0.0000;FS=3.019;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.85;ReadPosRankSum=-2.216e+00;SOR=1.058	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1250	20	0	1	0
chr17	5434951	5434951	G	C	exonic	C1QBP	.	nonsynonymous SNV	C1QBP:NM_001212:exon3:c.C399G:p.F133L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.752	P	0.591	P	0.000	D	1.000	D	2.015	M	.	.	-0.725	T	0.228	T	0.938	3.879	19.71	1.21	0.553	3.245	9.341	0.361	0.0244139149482	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1334073347	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.082	0.33254	T	0.039	0.51112	D	0.752	0.43309	P	0.591	0.50479	P	0.000001	0.62929	D	0.098400	0.999999	0.58761	D	2.52	0.73523	M	.	.	.	-4.4	0.77308	D	0.965	0.97535	-0.7248	0.59224	T	0.228	0.59258	T	9	0.95737636	0.95111	D	0.024414	0.47408	T	0.361	0.68141	0.94	0.99182	0.411531665326	0.40769	0.8900448585939228	0.88974	0.893170516234	0.70311	0.709330797195	0.68497	T	0.671352	0.90249	D	0.38655	0.89122	D	0.317476	0.88985	D	0.992344796657562	0.82800	D	0.908009	0.67517	D	0.7012124	0.78123	0.47199395	0.69389	0.7012124	0.78124	0.47199395	0.69389	-7.037	0.54303	T	0.4705204487742078	0.55106	0.993	0.94691	P	.;.;.	.;.;.	3.875228	0.56290	23.7	0.9975630577542941	0.84694	0.97113	0.72765	D	AEFGBI	0.548000	0.56147	D	0.185074949923045	0.50482	3.237819	0.143281147672589	0.46786	2.919045	0.998557289975698	0.37186	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.3	1.21	0.20240	3.323000	0.51726	6.458000	0.55688	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2576:0.0:0.7424:0.0	9.341	0.37243	615	0.66512	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	548.98	37	chr17	5434951	.	G	C	548.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.87;DP=710;ExcessHet=0.0000;FS=8.027;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.84;ReadPosRankSum=-2.140e-01;SOR=2.338	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1023	20	0	1	0
chr17	5541870	5541870	G	C	exonic	NLRP1	.	nonsynonymous SNV	NLRP1:NM_001033053:exon6:c.C2686G:p.L896V	Autoinflammation with arthritis and dyskeratosis, Autosomal recessive, Autosomal dominant;Palmoplantar carcinoma, multiple self-healing	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.879	P	0.36	B	0.360	N	1.000	N	2.51	M	-1.08	T	-0.571	T	0.370	T	0.34	0.852	8.446	1.02	0.433	1.392	4.227	0.291	0.00742752607342	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs774057957	1.368e-06	1.368e-06	1.361e-06	1.375e-06	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.46513	D	0.01	0.69154	D	0.802	0.45105	P	0.273	0.40007	B	0.359967	0.13685	N	0.466272	1	0.08975	N	.	.	.	-1.08	0.77078	T	-1.69	0.52776	N	0.128	0.26957	-0.5710	0.65975	T	0.370	0.72932	T	10	0.14983436	0.28350	T	0.007428	0.19712	T	0.291	0.61040	0.334	0.32167	0.77106490448	0.76897	0.19906805625952317	0.19823	0.592960253697	0.54662	0.349057018757	0.17784	T	0.03398	0.23137	T	-0.0103817	0.50212	T	-0.252689	0.49552	T	0.465694636106491	0.31374	T	0.80472	0.55722	T	0.22760718	0.45465	0.095892705	0.22761	0.22760718	0.45465	0.095892705	0.22760	-6.372	0.49291	T	0.6857463462889624	0.76277	0.204	0.53119	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.437240	0.47799	22.5	0.98617583347695204	0.43731	0.19384	0.20640	N	ALL	0.039998	0.05887	N	-0.426612934831294	0.24539	1.325765	-0.635833613058023	0.18574	0.9928822	0.999999619383746	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.658952	0.52864	0	0.714379	0.83352	0	.	.	2.01	1.02	0.19102	0.524000	0.22648	0.840000	0.22034	0.672000	0.70159	0.015000	0.19116	0.063000	0.22074	0.006000	0.07323	0.2096:0.0:0.7904:0.0	4.227	0.10041	689	0.59000	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	912.98	35	chr17	5541870	.	G	C	912.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.541;DP=777;ExcessHet=0.0000;FS=1.876;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=0.515;SOR=0.984	GT:AD:DP:GQ:PL	0/1:40,37:77:99:927,0,954	20	0	1	0
chr17	5559097	5559097	C	A	exonic	NLRP1	.	nonsynonymous SNV	NLRP1:NM_001033053:exon4:c.G1599T:p.Q533H	Autoinflammation with arthritis and dyskeratosis, Autosomal recessive, Autosomal dominant;Palmoplantar carcinoma, multiple self-healing	.	0	1504	18	0	0	18	0.00594845	.	.	613091	not_provided|NLRP1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.975	D	0.149	N	0.977	N	2.955	M	-0.53	T	-0.572	T	0.392	T	0.624	3.172	16.61	1.14	0.566	0.544	2.58	0.415	0.0258884689747	0.0056	0.00219649	0.0043	0.0025	0.0030	0.0002	0.0014	0.0064	0.0055	0.0007	0.0044566	689	154602	rs112191372	0.0057	0.0057	0.0059	0.0056	0.0069	0.0056	0.0056	0.0064	0.0063	0.0014	0.0038	0.0111	0	0.0011	0.0069	0.0065	0.0073	0.0013	0.0045	0.0045	0.0050	0.0040	0.0068	0.0043	0.0041	0.0063	0.0061	0.0016	0.0088	0.0054	0.0115	0	0.0007	0.0068	0.0068	0.0057	0.0010	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.975	0.73362	D	0.149021	0.18031	N	0.409242	0.976765	0.25354	N	.	.	.	-0.57	0.71662	T	-4.52	0.78302	D	0.141	0.28498	-0.5717	0.65947	T	0.392	0.74561	T	10	0.012996584	0.00277	T	0.025888	0.48835	D	0.415	0.72555	0.763	0.89133	0.936058559648	0.93539	0.5814024575733019	0.58069	0.74828439397	0.63630	0.274539232254	0.06742	T	0.089643	0.38415	T	-0.224033	0.17447	T	-0.0904387	0.64129	T	0.0460306935496564	0.04790	T	0.736726	0.35329	T	0.25230798	0.48245	0.28919536	0.54939	0.29878113	0.52795	0.27435258	0.53361	-9.53	0.71387	D	0.6874355190716821	0.76469	0.569	0.67594	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.962101	0.24926	16.58	0.99718167395379842	0.81843	0.65202	0.32659	D	AEFBCI	0.162471	0.28865	N	0.37151880019501	0.59883	4.171697	0.245661772629334	0.52402	3.415343	0.00509955563897757	0.10825	0.706548	0.73137	0	0.724815	0.89359	0	0.59043	0.30614	0	0.714379	0.83352	0	.	.	4.38	1.14	0.19817	1.484000	0.35116	-0.083000	0.12153	0.598000	0.34611	1.000000	0.71638	0.405000	0.24731	0.613000	0.31716	0.1953:0.5112:0.1892:0.1043	2.58	0.04524	706	0.57215	.;.;NACHT nucleoside triphosphatase;NACHT nucleoside triphosphatase;NACHT nucleoside triphosphatase;.;.;.;NACHT nucleoside triphosphatase;NACHT nucleoside triphosphatase	.	.	.	.	rs112191372	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2363.98	38	chr17	5559097	.	C	A	2363.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.218e+00;DP=1094;ExcessHet=0.0000;FS=4.482;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.91;ReadPosRankSum=1.87;SOR=0.954	GT:AD:DP:GQ:PL	0/0:97,0:97:99:0,120,1800	20	0	1	0
chr17	6425710	6425710	C	A	exonic	AIPL1	.	nonsynonymous SNV	AIPL1:NM_001033054:exon5:c.G716T:p.R239L	Cone-rod dystrophy, Autosomal recessive;Leber congenital amaurosis 4, Autosomal recessive;Retinitis pigmentosa, juvenile, Autosomal recessive	YES	1	1480	38	3	0	44	0.0146471	.	.	76620	Leber_congenital_amaurosis_4|Leber_congenital_amaurosis_1|AIPL1-related_disorder|not_specified|not_provided	MONDO:MONDO:0011458,MedGen:C1858386,OMIM:604393|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65|MedGen:CN239169|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.12	T	0.031	B	0.023	B	0.385	N	1.000	D	0.345	N	-0.61	T	-1.134	T	0.132	T	0.665	2.423	14.06	-3.89	-1.235	-0.228	4.532	0.406	0.0394799728856	0.0005	0.00159744	0.0026	9.768e-05	0.0044	0	0	0.0017	0.0089	0.0087	0.0022898	354	154602	rs62637015	0.0016	0.0016	0.0013	0.0018	0.0094	0.0015	0.0015	0.0088	0.0086	0.0001	0.0040	0.0057	2.519e-05	2.106e-05	0.0090	0.0009	0.0025	0.0094	0.0013	0.0013	0.0012	0.0013	0.0085	0.0011	0.0011	0.0064	0.0057	0.0002	0	0.0031	0.0046	0	0	0.0034	0.0010	0.0052	0.0085	0.214	0.22920	T	0.252	0.32144	T	0.003	0.20130	B	0.006	0.19966	B	0.385035	0.13336	N	0.718610	1	0.81001	D	0.55	0.14455	N	-0.61	0.71779	T	-3.36	0.66549	D	0.086	0.16586	-1.1342	0.01592	T	0.132	0.44445	T	10	0.0067735612	0.00154	T	0.03948	0.58831	D	0.406	0.71869	.	.	0.434045841721	0.43020	0.42811152323532936	0.42728	0.233831914557	0.25922	0.291568279266	0.09150	T	0.257128	0.62812	T	-0.272105	0.11523	T	-0.157804	0.58549	T	0.0625567919696403	0.07565	T	0.337566	0.34567	T	0.20028594	0.41999	0.27257818	0.53170	0.2458464	0.47547	0.2033774	0.44410	-2.613	0.15123	T	0.16614760690030306	0.20640	0.129	0.36214	B	.;.;.;.;.;.	.;.;.;.;.;.	1.465544	0.18885	13.98	0.96059384047437069	0.28588	0.16297	0.19323	N	AEFBI	0.206018	0.33232	N	-0.939645002544192	0.09926	0.4720182	-0.905343940075263	0.11967	0.6129108	6.31791550540901E-5	0.04366	0.428477	0.06694	0	0.547309	0.14657	0	0.550215	0.18615	0	0.613276	0.41899	0	.	.	4.98	-3.89	0.03916	-0.221000	0.09208	-2.386000	0.03819	0.599000	0.40250	0.062000	0.21832	0.000000	0.08366	0.997000	0.79791	0.2438:0.3904:0.0:0.3658	4.532	0.11413	872	0.31118	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	2197.98	34	chr17	6425710	.	C	A	2197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.968;DP=888;ExcessHet=0.0000;FS=2.846;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.09;ReadPosRankSum=-1.854e+00;SOR=0.487	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,997	20	0	1	0
chr17	6428382	6428382	T	A	exonic	AIPL1	.	nonsynonymous SNV	AIPL1:NM_001033055:exon2:c.A221T:p.Y74F	Cone-rod dystrophy, Autosomal recessive;Leber congenital amaurosis 4, Autosomal recessive;Retinitis pigmentosa, juvenile, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	193626	not_specified|not_provided|Leber_congenital_amaurosis_1|Leber_congenital_amaurosis_4	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65|MONDO:MONDO:0011458,MedGen:C1858386,OMIM:604393	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.22	T	0.999	D	0.992	D	0.000	D	1.000	D	1.84	L	-2.84	D	0.449	D	0.724	D	0.819	3.643	18.52	4.9	1.962	7.691	12.772	0.845	0.0542788300811	0.0055	0.00199681	0.0042	0.0013	0.0029	0	0.0008	0.0061	0.0055	0.0026	0.0045924	710	154602	rs16955851	0.0060	0.0060	0.0061	0.0058	0.0071	0.0059	0.0058	0.0069	0.0069	0.0012	0.0033	0.0015	7.557e-05	0.0010	0.0014	0.0071	0.0046	0.0036	0.0039	0.0039	0.0042	0.0037	0.0067	0.0037	0.0036	0.0062	0.0060	0.0010	0	0.0047	0.0009	0.0004	0.0009	0	0.0067	0.0038	0.0025	0.116	0.28395	T	0.153	0.36101	T	0.655	0.77913	P	0.534	0.80445	P	0.000001	0.62929	D	0.058346	1	0.81001	D	2.5	0.72771	M	-2.84	0.91305	D	-2.43	0.53258	N	0.706	0.70966	0.449	0.89824	D	0.724	0.90528	D	10	0.024469852	0.00674	T	0.054279	0.65794	D	0.845	0.95175	.	.	0.898978955884	0.89797	0.6039856871579568	0.60329	0.51877166463	0.49718	0.683971405029	0.64840	T	0.373314	0.73733	T	-0.0286213	0.47618	T	0.195506	0.82880	D	0.0187121677499424	0.00584	T	0.756224	0.47330	T	0.645341	0.75116	0.26124224	0.51899	0.6295265	0.74274	0.29161036	0.55185	-8.627	0.68842	D	0.1842315181648148	0.23885	0.105	0.22933	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.954110	0.57946	23.9	0.98069804036237018	0.38015	0.97809	0.77292	D	AEFDBI	0.945785	0.95449	D	0.540172950503722	0.69485	5.363687	0.554326964236477	0.71699	5.694818	0.999993677732639	0.74766	0.514905	0.20481	0	0.547309	0.14657	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	4.9	4.9	0.63643	7.667000	0.82852	7.796000	0.69015	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	12.772	0.56806	872	0.31118	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1295.98	34	chr17	6428382	.	T	A	1295.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=844;ExcessHet=0.0000;FS=4.689;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=0.012;SOR=0.803	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1228	20	0	1	0
chr17	6590544	6590544	C	T	exonic	KIAA0753	.	nonsynonymous SNV	KIAA0753:NM_001351225:exon17:c.G1630A:p.V544M	.	.	.	.	.	.	.	.	.	.	.	1961848	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.981	D	0.783	P	0.040	N	1.000	N	2.075	M	0.93	T	-0.923	T	0.174	T	0.264	1.425	10.70	3.21	0.698	0.314	9.861	0.093	0.0103978755771	8.3e-05	.	3.314e-05	0.0001	0	0	0	1.499e-05	0	0.0001	2.59e-05	4	154602	rs376343290	8.21e-06	8.209e-06	8.168e-06	8.252e-06	0.0002	4.38e-06	3.46e-06	1.583e-05	9.3e-06	2.988e-05	0	0	0	0	0.0002	4.497e-06	1.656e-05	4.638e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	7.239e-05	5.24e-06	2.45e-06	1.919e-05	1.032e-05	7.239e-05	0	0	0	0	0	0	0	0	0	0.009	0.57480	D	0.0	0.92824	D	0.981	0.59675	D	0.783	0.57419	P	0.040281	0.24075	N	0.442842	0.999627	0.20843	N	.	.	.	0.93	0.44065	T	-0.99	0.26200	N	0.101	0.08366	-0.9227	0.45182	T	0.174	0.51690	T	10	0.17352661	0.32183	T	0.010398	0.26893	T	0.093	0.26882	.	.	0.297375071883	0.29337	0.47081081895433063	0.47000	0.0964755797854	0.10890	0.378869980574	0.22096	T	0.014566	0.12376	T	-0.3071	0.08006	T	-0.497377	0.22621	T	0.613344728946686	0.36935	D	0.814119	0.46793	T	0.055408165	0.10765	0.079614416	0.17939	0.055408165	0.10765	0.079614416	0.17939	-5.476	0.41643	T	.	.	0.128	0.27161	B	.;.;.	.;.;.	1.521018	0.19527	14.31	0.99330932771664859	0.59777	0.12173	0.17105	N	AEFGBI	0.047362	0.07968	N	-0.0783285075147447	0.38344	2.244322	-0.259999864365604	0.29429	1.648643	0.999991520298799	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.19	3.21	0.35933	0.525000	0.22664	0.789000	0.21551	0.599000	0.40250	0.012000	0.18695	0.524000	0.25326	0.355000	0.25773	0.0:0.8315:0.0:0.1685	9.861	0.40283	845	0.36510	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	764.98	33	chr17	6590544	.	C	T	764.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.981;DP=768;ExcessHet=0.0000;FS=0.850;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.33;ReadPosRankSum=0.634;SOR=0.648	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1188	20	0	1	0
chr17	6652010	6652010	C	A	exonic	C17orf100	.	nonsynonymous SNV	C17orf100:NM_001105520:exon1:c.C97A:p.R33S,	.	.	357	1159	1	0	5	6	0.00043122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.949	P	0.636	P	.	.	0.998	N	0	N	.	.	-1.084	T	0.055	T	0.293	3.805	19.32	3.23	1.073	1.879	8.582	0.085	0.00774940836745	0.0002	.	0.0011	0	0.0029	0	0	0.0002	0	0.0020	0.0002199	34	154602	rs375738897	0.0002	0.0002	0.0001	0.0002	0.0014	0.0002	0.0002	0.0012	0.0011	0	0.0003	0	0	0	0.0009	0.0001	0.0002	0.0014	0.0002	0.0002	0.0001	0.0002	0.0014	0.0001	9.695e-05	0.0007	0.0005	2.405e-05	0	0	0	0	0	0	0.0002	0.0009	0.0014	.	.	.	.	.	.	0.949	0.53761	P	0.636	0.51948	P	.	.	.	.	0.998394	0.22181	N	0.695	0.17993	N	.	.	.	.	.	.	.	.	-1.0837	0.06646	T	0.055	0.23338	T	8	0.0190126	0.00420	T	0.007749	0.20563	T	.	.	.	.	.	.	0.12708782309222355	0.12634	.	.	.	.	.	0.124195	0.44906	T	-0.420365	0.01701	T	-0.422153	0.30827	T	0.102907612983851	0.12675	T	.	.	.	0.18499492	0.39841	0.12854789	0.30926	0.18499492	0.39841	0.12854789	0.30925	-6.732	0.52051	T	.	.	0.384	0.58674	A	.	.	3.538793	0.49683	22.8	0.99137072511884916	0.53437	0.68223	0.33721	D	AEFDGBHCI	0.194847	0.32191	N	0.101274485352608	0.46522	2.891303	0.130773787118787	0.46132	2.864172	0.999999999929465	0.74766	0.56387	0.32371	0	0.484254	0.07192	0	0.503968	0.08637	0	0.492483	0.08430	1	.	.	4.2	3.23	0.36150	1.084000	0.30439	-0.466000	0.09008	0.542000	0.25261	0.999000	0.42656	0.000000	0.08366	0.012000	0.09680	0.0:0.8873:0.0:0.1127	8.582	0.32798	872	0.31118	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1393.98	34	chr17	6652010	.	C	A	1393.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.16;DP=823;ExcessHet=0.0000;FS=2.437;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.56;ReadPosRankSum=0.242;SOR=0.491	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,101,1222	20	0	1	0
chr17	6707135	6707135	T	C	exonic	SLC13A5	.	nonsynonymous SNV	SLC13A5:NM_001143838:exon2:c.A124G:p.I42V	Epileptic encephalopathy, early infantile, 25, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.329	B	0.437	B	0.000	N	1.000	D	0.835	L	4.04	T	-0.852	T	0.013	T	0.366	1.608	11.33	3.15	0.437	2.350	6.904	0.134	0.0115125430183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.21304	T	0.31	0.25210	T	0.329	0.33227	B	0.437	0.45591	B	0.000000	0.84330	N	0.085895	0.998017	0.81001	D	1.19	0.30124	L	4.04	0.03121	T	-0.62	0.18248	N	0.321	0.38848	-0.8519	0.51837	T	0.013	0.04985	T	10	0.15944508	0.29958	T	0.011513	0.29207	T	0.134	0.36365	0.522	0.62518	0.313210971179	0.30940	0.42086618264418346	0.42002	0.2501032942	0.27591	0.424964904785	0.28520	T	0.109445	0.42332	T	-0.169951	0.25242	T	-0.4819	0.24244	T	0.407440274953842	0.29222	T	0.816518	0.47426	T	0.09399844	0.22091	0.11753781	0.28373	0.09399844	0.22091	0.11753781	0.28372	-4.2	0.28414	T	0.18332288541525327	0.23726	0.096	0.31532	B	.;.;.	.;.;.	2.352183	0.30154	18.35	0.94365882124775891	0.24726	0.80044	0.39789	D	AEFDBCI	0.369692	0.45633	N	-0.322972037126395	0.28278	1.558384	-0.194155532616306	0.31751	1.799816	0.215747925061085	0.18295	0.615465	0.37627	0	0.627178	0.54094	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.4	3.15	0.35301	2.593000	0.45845	0.594000	0.19852	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0801:0.151:0.769	6.904	0.23478	812	0.42537	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	290.11	40	chr17	6707135	.	T	C	290.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.262e+00;DP=1270;ExcessHet=0.1072;FS=202.956;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.96;MQRankSum=0.00;QD=0.89;ReadPosRankSum=0.744;SOR=8.468	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1370	19	0	2	0
chr17	6760580	6760580	G	T	exonic	XAF1	.	stopgain	XAF1:NM_199139:exon3:c.G343T:p.E115X	.	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	.	.	.	.	0.012	N	1.000	D	.	.	.	.	.	.	.	.	.	0.136	4.733	-5.71	-1.202	-1.163	5.642	.	.	0.0042	0.00139776	0.0037	0.0012	0.0021	0	0.0017	0.0056	0.0080	0.0012	0.0038098	589	154602	rs146752602	0.0055	0.0055	0.0056	0.0053	0.0066	0.0054	0.0053	0.0065	0.0065	0.0010	0.0021	7.661e-05	0	0.0022	0.0023	0.0066	0.0050	0.0010	0.0037	0.0037	0.0041	0.0032	0.0059	0.0034	0.0033	0.0054	0.0052	0.0008	0.0669	0.0016	0	0	0.0027	0	0.0059	0.0019	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	0.012108	0.01326	N	2.424610	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.507	0.65673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.239564	0.15404	T	-0.112047	0.62448	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant	.;High	4.839084	0.78981	27.0	0.75401304140767478	0.11061	0.08653	0.14552	N	AEFBCI	0.020562	0.00824	N	-0.464678502998854	0.23244	1.246906	-0.917117463289183	0.11690	0.597124	0.999902288651337	0.45458	0.67177	0.52595	0	0.702456	0.74545	0	0.573888	0.23631	0	0.491896	0.07777	0	.	.	3.77	-5.71	0.02218	-1.649000	0.02095	-2.174000	0.04104	-1.436000	0.01109	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5139:0.2645:0.2216:0.0	5.642	0.16846	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	706.98	34	chr17	6760580	.	G	T	706.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.105e+00;DP=826;ExcessHet=0.0000;FS=0.900;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.43;ReadPosRankSum=-1.034e+00;SOR=0.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485	20	0	1	0
chr17	6800774	6800774	A	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.T1022C:p.V341A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.897	P	0.896	P	0.001	D	0.599	N	2.7	M	3.44	T	-1.048	T	0.058	T	0.541	4.460	23.8	4.74	2.367	4.854	10.663	0.211	0.0136532063299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.302e-05	0.0002	1.364e-05	1.24e-05	1.712e-05	8.33e-06	6.71e-06	1.095e-05	8.82e-06	0	0	0	0	0	0	1.712e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	0.897	0.49385	P	0.896	0.63555	P	0.000902	0.41128	D	0.246339	0.598701	0.30959	N	3.065	0.87014	M	3.44	0.05375	T	-3.88	0.72710	D	0.469	0.50508	-1.0481	0.14932	T	0.058	0.24317	T	10	0.85543704	0.84738	D	0.013653	0.33213	T	0.211	0.50185	0.815	0.92992	0.302793454619	0.29890	0.5381300802551101	0.53738	0.48517630844	0.47408	0.480688631535	0.36152	T	0.058801	0.30942	T	-0.0754763	0.40446	T	-0.346193	0.39641	T	0.990202784538269	0.80421	D	0.738526	0.35642	T	0.46101037	0.64733	0.5876386	0.76081	0.46101037	0.64734	0.5876386	0.76082	-6.018	0.46431	T	.	.	0.254	0.48918	B	.	.	4.284510	0.65289	24.8	0.99846874401452357	0.92663	0.88134	0.47929	D	AEFDBHCI	0.414490	0.48374	N	0.641969214612071	0.75852	6.379411	0.598680606811418	0.74844	6.206881	0.999992332852905	0.74766	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	4.74	0.59717	4.977000	0.63509	6.831000	0.56692	0.756000	0.94297	1.000000	0.71638	0.896000	0.27899	0.988000	0.63387	0.9208:0.0:0.0792:0.0	10.663	0.44909	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	76.33	121	chr17	6800774	.	A	G	76.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-3.173e+00;DP=1972;ExcessHet=0.0000;FS=131.242;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=0.48;ReadPosRankSum=1.70;SOR=7.701	GT:AD:DP:GQ:PL	0/1:131,29:160:90:90,0,4243	19	0	1	1
chr17	6800775	6800775	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021C:p.V341L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.554	P	0.802	P	0.001	D	0.604	N	2.585	M	3.56	T	-1.117	T	0.046	T	0.639	4.235	22.0	2.75	0.471	1.653	10.030	0.254	0.0148905317491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.74e-06	0.0001	2.726e-06	2.755e-06	3.602e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.01	0.65728	D	0.554	0.38213	P	0.802	0.58266	P	0.000902	0.41128	D	0.246339	0.603536	0.30920	N	3.065	0.87014	M	3.56	0.04696	T	-2.86	0.60188	D	0.591	0.61087	-1.1171	0.02524	T	0.046	0.19879	T	10	0.87548256	0.86836	D	0.014891	0.35296	T	0.254	0.56428	0.784	0.90768	0.246773566709	0.24272	0.5436249433425214	0.54288	0.388407156696	0.40106	0.465720266104	0.34094	T	0.063408	0.32168	T	-0.0577574	0.43257	T	-0.320741	0.42493	T	0.98490309715271	0.76061	D	0.841416	0.51702	T	0.3524521	0.57257	0.4248366	0.66311	0.3524521	0.57257	0.4248366	0.66311	-7.213	0.55575	T	.	.	0.280	0.51350	B	.	.	3.041864	0.40780	21.2	0.99569122627841022	0.72258	0.87246	0.46727	D	AEFDBHCI	0.189729	0.31698	N	0.250775222256954	0.53677	3.535585	0.210393057645656	0.50423	3.234527	0.999881703001044	0.44867	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.75	0.31439	1.756000	0.38018	-0.111000	0.11829	0.599000	0.40250	1.000000	0.71638	0.151000	0.23179	0.983000	0.59808	0.0:0.7763:0.0:0.2237	10.030	0.41269	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3235	3330.64	69	chr17	6800775	.	C	G,T	3330.64	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=-2.445e+00;DP=2964;ExcessHet=7.7275;FS=201.373;InbreedingCoeff=-0.4528;MLEAC=11,1;MLEAF=0.324,0.029;MQ=60.00;MQRankSum=0.00;QD=2.01;ReadPosRankSum=1.28;SOR=12.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:107,15,12:148:99:.:.:267,0,4087,346,2822,3121	6	0	10	4
chr17	6800775	6800775	C	T	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021A:p.V341I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.112	B	0.341	B	0.001	N	0.837	N	1.89	L	3.53	T	-1.084	T	0.031	T	0.091	3.174	16.62	2.75	0.471	1.653	10.030	0.067	0.00715835594955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.081	0.41742	T	0.112	0.26290	B	0.341	0.42432	B	0.000902	0.41128	N	0.246339	0.836835	0.28685	N	2.085	0.57729	M	3.53	0.04852	T	-0.93	0.24898	N	0.185	0.20129	-1.0839	0.06609	T	0.031	0.13199	T	10	0.22078857	0.38785	T	0.007158	0.18979	T	0.067	0.19503	0.712	0.84781	0.148003135375	0.14442	0.3112784524375874	0.31040	0.154972287805	0.17502	0.400090247393	0.25082	T	0.025988	0.19322	T	-0.29632	0.09012	T	-0.663419	0.08038	T	0.66377192735672	0.39061	D	0.726327	0.34071	T	0.10866317	0.25691	0.13250326	0.31794	0.10866317	0.25691	0.13250326	0.31794	-5.762	0.44242	T	.	.	0.090	0.12512	B	.	.	2.315459	0.29642	18.19	0.99362639271959785	0.61071	0.80189	0.39893	D	AEFDBHCI	0.113020	0.22317	N	-0.0799309812297689	0.38272	2.239086	-0.0159644293184332	0.38992	2.305383	0.999881703001044	0.44867	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.75	0.31439	1.756000	0.38018	-0.111000	0.11829	0.599000	0.40250	1.000000	0.71638	0.151000	0.23179	0.983000	0.59808	0.0:0.7763:0.0:0.2237	10.030	0.41269	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3235	3330.64	69	chr17	6800775	.	C	G,T	3330.64	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=-2.445e+00;DP=2964;ExcessHet=7.7275;FS=201.373;InbreedingCoeff=-0.4528;MLEAC=11,1;MLEAF=0.324,0.029;MQ=60.00;MQRankSum=0.00;QD=2.01;ReadPosRankSum=1.28;SOR=12.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:107,15,12:148:99:.:.:267,0,4087,346,2822,3121	6	0	10	4
chr17	6800776	6800776	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1020C:p.E340D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	0.994	D	3.515	H	2.96	T	-0.982	T	0.107	T	0.857	4.089	21.0	2.8	0.492	1.521	8.074	0.326	0.028278372682	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.098481	0.983136	0.42247	D	3.525	0.93020	H	2.96	0.09542	T	-2.88	0.60507	D	0.808	0.80375	-0.9824	0.34445	T	0.107	0.39051	T	10	0.95349437	0.94696	D	0.028278	0.50978	D	0.326	0.64826	0.877	0.96683	0.497481867153	0.49385	0.6113345721572323	0.61065	0.419681481569	0.42513	0.529784560204	0.43004	T	0.202368	0.56052	T	0.124774	0.66848	D	-0.0585471	0.66434	T	0.995554625988007	0.87638	D	0.840516	0.51562	T	0.7195699	0.79137	0.5731973	0.75279	0.7195699	0.79139	0.5731973	0.75280	-8.963	0.67458	D	.	.	0.829	0.78671	P	.	.	3.572194	0.50313	22.9	0.9983085278040047	0.91284	0.84486	0.43568	D	AEFDBHCI	0.220516	0.34526	N	0.55574673951639	0.70432	5.500766	0.423949101341838	0.63059	4.532556	0.999819604160299	0.43459	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.8	0.31881	1.605000	0.36426	0.787000	0.21533	0.599000	0.40250	1.000000	0.71638	0.338000	0.24408	0.976000	0.56436	0.0:0.6876:0.0:0.3124	8.074	0.29869	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1944	1543.06	69	chr17	6800776	.	C	G,T	1543.06	.	AC=4,3;AF=0.111,0.083;AN=36;BaseQRankSum=-3.449e+00;DP=2429;ExcessHet=2.5830;FS=177.172;InbreedingCoeff=-0.2591;MLEAC=4,3;MLEAF=0.111,0.083;MQ=60.00;MQRankSum=0.00;QD=1.70;ReadPosRankSum=0.492;SOR=11.197	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:107,33,0:154:99:.:.:443,0,2665,681,3005,4558	11	0	4	3
chr17	7038155	7038155	C	G	exonic	SLC16A13	.	nonsynonymous SNV	SLC16A13:NM_201566:exon3:c.C347G:p.S116C,	.	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.98	D	0.91	D	0.000	D	0.820	N	1.4	L	3.24	T	-1.122	T	0.036	T	0.224	3.148	16.53	3.25	1.255	2.439	7.170	0.068	0.00371815578664	.	.	1.698e-05	0	0	0	0	3.045e-05	0	0	1.29e-05	2	154602	rs756758847	1.166e-05	1.163e-05	8.185e-06	1.517e-05	0.0002	7.1e-06	5.81e-06	5.76e-06	4.55e-06	0	0	0	0	0	0.0002	1.081e-05	4.979e-05	1.162e-05	1.971e-05	1.97e-05	1.284e-05	2.689e-05	4.409e-05	5.24e-06	2.45e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.085	0.32769	T	0.054	0.47097	T	0.98	0.59353	D	0.91	0.64641	D	0.000047	0.53742	D	0.076020	0.820001	0.28894	N	0.42	0.12520	N	3.24	0.06845	T	-0.32	0.12283	N	0.247	0.27910	-1.1223	0.02191	T	0.036	0.15509	T	10	0.39960474	0.55473	T	0.003718	0.08620	T	0.068	0.19811	.	.	0.126345400529	0.12197	0.3809918356218819	0.38014	0.271436993991	0.29665	0.377611756325	0.21916	T	0.112812	0.42937	T	-0.302659	0.08411	T	-0.571895	0.15277	T	0.231601014733315	0.22027	T	0.562644	0.19782	T	0.0756289	0.17052	0.061026096	0.11717	0.0756289	0.17051	0.061026096	0.11716	-2.977	0.09935	T	.	.	0.059	0.00806	B	.	.	2.863009	0.37831	20.6	0.97801956853358241	0.36071	0.73850	0.36122	D	AEFDBHCI	0.517662	0.54369	D	0.3673355927677	0.59661	4.147368	0.354115117648791	0.58756	4.048141	0.999999452328119	0.74766	0.722319	0.85440	0	0.627608	0.54475	0	0.691665	0.62940	0	0.735409	0.98432	0	.	.	5.39	3.25	0.36363	2.637000	0.46219	3.436000	0.38348	-0.217000	0.08171	0.986000	0.36153	1.000000	0.68203	0.885000	0.42453	0.0:0.5759:0.3356:0.0884	7.170	0.24891	754	0.51307	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	937.98	34	chr17	7038155	.	C	G	937.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.04;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.13;ReadPosRankSum=0.345;SOR=0.852	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	20	0	1	0
chr17	7038641	7038641	G	T	exonic	SLC16A13	.	nonsynonymous SNV	SLC16A13:NM_201566:exon3:c.G833T:p.G278V,	.	.	424	1085	11	2	0	15	0.00686499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.025	B	0.012	B	0.043	N	1.000	D	0.88	L	-0.06	T	-1.068	T	0.017	T	0.577	1.197	9.865	5.59	2.627	2.865	17.086	0.162	0.00825575818824	0.0002	0.00179712	0.0011	0.0002	0.0002	0	0	0.0003	0	0.0065	0.0009638	149	154602	rs184174774	0.0005	0.0005	0.0003	0.0007	0.0062	0.0004	0.0004	0.0058	0.0056	0	0	0.0002	0	1.872e-05	0.0035	8.993e-05	0.0005	0.0062	0.0002	0.0002	0.0002	0.0003	0.0041	0.0002	0.0001	0.0027	0.0023	4.812e-05	0	0	0.0003	0	0	0	0.0001	0	0.0041	0.671	0.04548	T	0.501	0.11153	T	0.025	0.19245	B	0.012	0.16012	B	0.042677	0.23818	N	0.475889	0.99998	0.54805	D	1.08	0.27187	L	-0.06	0.63568	T	0.33	0.03889	N	0.328	0.36884	-1.0683	0.09791	T	0.017	0.07092	T	10	0.0048539937	0.00103	T	0.008256	0.21878	T	0.162	0.41843	.	.	0.413241256734	0.40943	0.5010361464040538	0.50025	0.368163603029	0.38376	0.401091575623	0.25220	T	0.007882	0.07256	T	-0.335478	0.05708	T	-0.252055	0.49613	T	0.0296607524246181	0.01938	T	0.688231	0.29741	T	0.19471332	0.41231	0.18879253	0.42190	0.19471332	0.41231	0.18879253	0.42189	-0.662	0.00693	T	.	.	0.115	0.23005	B	.	.	2.742183	0.35919	20.1	0.88819230020886974	0.18281	0.25863	0.22825	N	AEFDBCI	0.537821	0.55547	D	-0.27498234780677	0.30118	1.676391	-0.0972934918708493	0.35501	2.054705	0.999999993393148	0.74766	0.722319	0.85440	0	0.627608	0.54475	0	0.779548	0.98927	0	0.735409	0.98432	0	.	.	5.59	5.59	0.84677	2.762000	0.47278	11.810000	0.96908	0.676000	0.76740	0.160000	0.23797	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.086	0.86487	754	0.51307	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2694.98	34	chr17	7038641	.	G	T	2694.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.610e-01;DP=1185;ExcessHet=0.0000;FS=1.067;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=-1.784e+00;SOR=0.610	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	20	0	1	0
chr17	7107899	7107899	C	T	exonic	ASGR2	.	nonsynonymous SNV	ASGR2:NM_080914:exon4:c.G304A:p.V102M	.	.	414	1104	4	0	0	4	0.00180832	.	.	2680172	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.18	T	0.994	D	0.669	P	0.069	N	1.000	N	0.695	N	1.96	T	-1.055	T	0.047	T	0.251	0.727	7.866	-2.43	-0.444	-1.707	4.122	0.024	0.00450255090449	7.7e-05	.	0.0002	0	8.741e-05	0	0	0.0003	0	0.0002	0.000194	30	154602	rs377144273	0.0002	0.0002	0.0001	0.0002	0.0014	0.0001	0.0001	0.0007	0.0005	2.987e-05	0	0	0	5.619e-05	0.0014	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0.0002	9.749e-05	8.262e-05	0.0001	0.0001	2.414e-05	0	6.545e-05	0	0	9.414e-05	0	0.0002	0.0010	0.0002	0.144	0.25255	T	0.252	0.26549	T	0.386	0.66517	B	0.163	0.53077	B	0.069015	0.02228	N	2.226240	1	0.08975	N	1.27	0.32069	L	1.96	0.22270	T	-0.08	0.08187	N	0.185	0.26111	-1.0553	0.12961	T	0.047	0.20077	T	10	0.048068672	0.04208	T	0.004503	0.11063	T	0.024	0.04979	.	.	0.128392430309	0.12331	0.17925149635371926	0.17844	.	.	0.316328406334	0.12864	T	0.030579	0.21645	T	-0.477742	0.00763	T	-0.61164	0.11852	T	0.0146981694260332	0.00306	T	0.586341	0.23205	T	0.030297419	0.02669	0.0405138	0.04396	0.030297419	0.02668	0.0405138	0.04395	-4.154	0.26082	T	.	.	0.083	0.09191	B	.;.;.;.	.;.;.;.	0.164952	0.05550	2.008	0.91468011108736069	0.20739	0.02131	0.06287	N	AEFDBHCI	0.106676	0.21277	N	-1.10803160412234	0.06500	0.2993621	-1.25308368317263	0.05086	0.2414784	0.924664808962414	0.26787	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.46	-2.43	0.06145	-1.233000	0.03043	-4.372000	0.02191	-0.187000	0.09635	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3332:0.1853:0.4815	4.122	0.09582	349	0.85513	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1086.98	34	chr17	7107899	.	C	T	1086.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=904;ExcessHet=0.0000;FS=0.845;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.76;ReadPosRankSum=0.290;SOR=0.836	GT:AD:DP:GQ:PL	0/1:36,43:79:99:1101,0,776	20	0	1	0
chr17	7217773	7217773	C	T	exonic	ACADVL	.	nonsynonymous SNV	ACADVL:NM_001270447:exon2:c.C86T:p.T29I,	VLCAD deficiency, Autosomal recessive	.	11	1509	2	0	0	2	0.000662252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.032	B	0.025	B	.	.	1.000	N	.	.	-4.17	D	-0.036	T	0.721	D	0.097	2.619	14.72	-1.39	0.009	0.097	2.019	0.241	0.480318800563	.	.	.	.	.	.	.	.	.	.	.	.	.	rs915000249	1.301e-05	1.231e-05	1.142e-05	1.465e-05	0.0004	8.13e-06	6.71e-06	6.167e-05	2.549e-05	0	8.408e-05	0	0	0	0.0004	1.205e-05	0	0	6.58e-06	6.569e-06	1.286e-05	0	6.551e-05	0	0	.	.	0	0	6.551e-05	0	0	0	0	0	0	0	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.20103	N	.	.	.	-4.17	0.96855	D	0.27	0.04306	N	0.216	0.24135	-0.0365	0.81494	T	0.721	0.90426	D	8	0.16234088	0.30427	T	0.480319	0.94830	D	0.241	0.54641	0.196	0.10839	0.713223608057	0.71071	0.19950035657339535	0.19867	0.579052114772	0.53792	.	.	.	.	.	.	-0.148737	0.28511	T	-0.214759	0.53240	T	0.201615211215576	0.20504	T	0.364964	0.08484	T	.	.	.	.	.	.	.	.	-4.481	0.30639	T	.	.	0.129	0.27463	B	.	.	1.981476	0.25175	16.67	0.91837938175686951	0.21149	0.21420	0.21395	N	AEFDGBHCI	0.086578	0.17555	N	-0.477760215342318	0.22812	1.220649	-0.450011008645678	0.23548	1.284763	0.999999769864695	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.503968	0.08637	0	0.249971	0.05119	0	.	.	3.88	-1.39	0.08526	-0.103000	0.10909	0.764000	0.21339	0.577000	0.29297	0.041000	0.21027	0.988000	0.31051	0.996000	0.76049	0.1787:0.2965:0.3916:0.1332	2.019	0.03292	390	0.83257	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	852.98	34	chr17	7217773	.	C	T	852.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.949e+00;DP=774;ExcessHet=0.0000;FS=0.997;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.76;ReadPosRankSum=2.25;SOR=0.497	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1030	20	0	1	0
chr17	7224811	7224811	C	T	exonic	ACADVL	.	nonsynonymous SNV	ACADVL:NM_001033859:exon18:c.C1688T:p.A563V	VLCAD deficiency, Autosomal recessive	.	1	1517	4	0	0	4	0.00131666	.	.	271751	Inborn_genetic_diseases|not_provided|Very_long_chain_acyl-CoA_dehydrogenase_deficiency	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475,Orphanet:26793	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.825	P	0.000	D	1.000	D	2.945	M	-2.65	D	0.868	D	0.847	D	0.837	2.656	14.84	5.84	2.769	4.771	17.637	0.741	0.486986550879	0.0002	.	0.0001	0	0	0	0	0.0002	0	0.0002	0.0001035	16	154602	rs374729641	5.473e-05	5.472e-05	4.356e-05	6.601e-05	0.0009	4.477e-05	4.147e-05	0.0003	0.0002	0	0	0	0	0	0.0009	5.665e-05	0.0001	5.797e-05	4.601e-05	4.597e-05	5.14e-05	4.036e-05	7.35e-05	2.11e-05	1.527e-05	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0.0010	0	0.031	0.72154	D	0.051	0.47828	T	0.999	0.77913	D	0.786	0.59331	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.195	0.89043	M	-2.65	0.90210	D	-3.36	0.66549	D	0.812	0.88687	0.868	0.95255	D	0.847	0.94881	D	10	0.86269426	0.85497	D	0.486987	0.94936	D	0.741	0.91026	.	.	0.959718224107	0.95929	0.837374548974522	0.83697	0.720505066772	0.62184	0.627425074577	0.56780	T	0.671795	0.90267	D	0.200081	0.73898	D	0.297935	0.88102	D	0.517556488513947	0.33275	D	0.949755	0.82399	D	0.7697326	0.82032	0.55277026	0.74138	0.7697326	0.82033	0.55277026	0.74139	-8.35	0.63431	D	0.2828809246285287	0.37845	0.298	0.54257	B	.;.;.	.;.;.	5.210183	0.87424	29.2	0.98081697043574811	0.38110	0.89648	0.50247	D	AEFDBHCI	0.834673	0.75270	D	0.792555584886604	0.85637	8.635958	0.763813559880839	0.87188	9.135868	0.999999999999999	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.84	5.84	0.93373	6.508000	0.73632	7.618000	0.62188	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:1.0:0.0:0.0	17.637	0.88028	367	0.84523	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	629.98	39	chr17	7224811	.	C	T	629.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.351e+00;DP=838;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=2.28;SOR=0.562	GT:AD:DP:GQ:PL	0/1:28,28:56:99:644,0,753	20	0	1	0
chr17	7224973	7224973	G	A	exonic	ACADVL	.	nonsynonymous SNV	ACADVL:NM_001033859:exon19:c.G1778A:p.R593Q	VLCAD deficiency, Autosomal recessive	YES	0	1484	36	2	0	40	0.0132979	.	.	192609	not_specified|not_provided|Very_long_chain_acyl-CoA_dehydrogenase_deficiency	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475,Orphanet:26793	reviewed_by_expert_panel	Likely_benign	.	.	.	.	.	.	.	.	0.3	T	0.035	B	0.002	B	0.276	N	0.995	N	0.69	N	-1.15	T	-0.931	T	0.224	T	0.659	1.518	11.03	0.885	0.335	-0.016	8.384	0.397	0.0257525359531	0.0025	0.000798722	0.0028	0.0007	0.0006	0	0.0002	0.0044	0.0022	0.0020	0.002749	425	154602	rs148584617	0.0029	0.0029	0.0029	0.0030	0.0133	0.0028	0.0028	0.0109	0.0101	0.0013	0.0016	0.0116	0	0.0003	0.0133	0.0030	0.0031	0.0022	0.0024	0.0024	0.0024	0.0025	0.0040	0.0022	0.0022	0.0032	0.0029	0.0010	0	0.0040	0.0095	0	0.0003	0.0102	0.0031	0.0057	0.0017	0.49	0.07994	T	0.479	0.11933	T	0.033	0.20350	B	0.001	0.04355	B	0.276169	0.15032	N	0.641728	0.994622	0.23478	N	0.51	0.13489	N	-1.15	0.77964	T	-0.63	0.18459	N	0.656	0.66615	-0.9310	0.43992	T	0.224	0.58805	T	10	0.0066580176	0.00151	T	0.025753	0.48703	D	0.397	0.71163	.	.	0.628003037427	0.62497	0.5823363402754311	0.58162	0.224652461298	0.24998	0.2488938272	0.03652	T	0.136801	0.46939	T	-0.26384	0.12454	T	-0.153237	0.58956	T	0.00398743488164421	0.00042	T	0.822218	0.48193	T	0.11340508	0.26784	0.06592314	0.13431	0.13194865	0.30739	0.053821955	0.09139	-4.889	0.35611	T	0.1058887368373588	0.08449	0.065	0.04975	B	.;.;.	.;.;.	1.509091	0.19389	14.24	0.89813027631458398	0.19124	0.18951	0.20468	N	AEFDBHCI	0.475267	0.51918	N	-0.670574158382941	0.16863	0.862907	-0.582289400952017	0.19955	1.072971	0.999998862530056	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.74	0.885	0.18323	0.045000	0.13898	0.179000	0.15609	0.676000	0.76740	0.053000	0.21524	0.006000	0.19429	0.896000	0.43308	0.4535:0.0:0.5465:0.0	8.384	0.31651	366	0.84579	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	1922.11	39	chr17	7224973	.	G	A	1922.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.677;DP=904;ExcessHet=0.1072;FS=13.536;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=0.995;SOR=0.927	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	19	0	2	0
chr17	7230349	7230349	G	T	exonic	DVL2	.	nonsynonymous SNV	DVL2:NM_004422:exon3:c.C346A:p.P116T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87	T	0.97	D	0.683	P	0.000	D	1.000	D	1.245	L	3.82	T	-0.956	T	0.015	T	0.487	1.030	9.207	4.4	1.256	4.271	12.110	0.104	0.00452004895895	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1028425741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.508	0.07545	T	0.642	0.08161	T	0.865	0.47557	P	0.497	0.47562	P	0.000050	0.53742	D	0.127086	0.999928	0.51308	D	0.55	0.14455	N	3.82	0.04645	T	-0.6	0.17834	N	0.563	0.58713	-0.9561	0.39898	T	0.015	0.06090	T	10	0.18680638	0.34162	T	0.00452	0.11125	T	0.104	0.29647	0.294	0.25720	0.559541123154	0.55614	0.583361015407777	0.58265	0.250923755885	0.27671	0.543095946312	0.44884	T	0.309716	0.68172	T	-0.141644	0.29628	T	-0.441238	0.28670	T	0.469624727964401	0.31517	T	0.876412	0.62654	D	0.04103257	0.05968	0.047175758	0.06737	0.04103257	0.05967	0.047175758	0.06736	-5.94	0.45775	T	.	.	0.077	0.08272	B	.;.;.;.	.;.;.;.	3.684023	0.52454	23.2	0.83183513871834802	0.14587	0.98749	0.86360	D	AEFGBI	0.730739	0.67804	D	-0.136846650525232	0.35796	2.060695	-0.0615108978972578	0.36996	2.160305	0.999999681722002	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.38	4.4	0.52402	5.928000	0.69808	9.905000	0.82381	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.729000	0.35066	0.0:0.173:0.827:0.0	12.110	0.53135	367	0.84523	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	694.98	39	chr17	7230349	.	G	T	694.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.22;DP=867;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.37;ReadPosRankSum=-6.170e-01;SOR=0.730	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,111,1665	20	0	1	0
chr17	7236157	7236165	TCCTCTTCC	-	exonic	PHF23	.	nonframeshift deletion	PHF23:NM_001284517:exon4:c.561_569del:p.E192_E194del	.	.	379	1135	7	1	0	9	0.0039491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.000998403	0.0009	0.0007	0.0010	0.0021	0.0005	0.0003	0	0.0030	0.0002689	7	26028	rs569508322	0.0006	0.0006	0.0005	0.0007	0.0027	0.0005	0.0005	0.0024	0.0023	0.0006	0.0007	0	0.0013	0.0004	0.0026	0.0004	0.0009	0.0027	0.0009	0.0009	0.0009	0.0009	0.0037	0.0008	0.0007	0.0024	0.0020	0.0011	0.0252	0.0006	0	0.0017	0.0006	0	0.0003	0	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1051.94	35	chr17	7236156	.	TTCCTCTTCC	T	1051.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=848;ExcessHet=0.0000;FS=5.905;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.99;ReadPosRankSum=1.75;SOR=0.289	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,105,1575	20	0	1	0
chr17	7319055	7319055	G	A	exonic	NEURL4	.	nonsynonymous SNV	NEURL4:NM_001005408:exon22:c.C3673T:p.L1225F	.	.	427	1090	5	0	0	5	0.00228833	.	.	2814805	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.995	D	0.919	D	0.000	D	0.813	D	1.445	L	1.43	T	-0.869	T	0.129	T	0.517	3.787	19.22	4.83	2.367	5.142	12.893	0.161	0.0130734832472	0.0019	0.00159744	0.0026	0.0001	0.0008	0	0.0006	0.0032	0.0035	0.0053	0.0022768	352	154602	rs200109408	0.0035	0.0035	0.0034	0.0035	0.0041	0.0034	0.0034	0.0038	0.0038	0.0005	0.0007	7.722e-05	0	0.0016	0.0014	0.0039	0.0034	0.0041	0.0022	0.0022	0.0023	0.0020	0.0039	0.0020	0.0019	0.0034	0.0033	0.0006	0	0.0009	0	0	0.0012	0	0.0038	0.0019	0.0039	0.302	0.14497	T	0.149	0.32675	T	0.995	0.67487	D	0.919	0.65474	D	0.000258	0.46924	D	0.086622	0.813267	0.34671	D	1.175	0.29870	L	1.43	0.32958	T	-1.73	0.41046	N	0.557	0.61002	-0.8692	0.50589	T	0.129	0.43767	T	10	0.010265142	0.00229	T	0.013073	0.32181	T	0.161	0.41658	.	.	0.196089822672	0.19227	0.2942074236727332	0.29333	1.35714377072	0.84207	0.692753434181	0.66101	T	0.029025	0.20890	T	-0.412388	0.01916	T	-0.361418	0.37888	T	0.030780404803315	0.02111	T	0.924308	0.72323	D	0.11423163	0.26970	0.12781076	0.30759	0.11423163	0.26969	0.12781076	0.30759	-6.298	0.48706	T	.	.	0.362	0.57361	A	.;.;.	.;.;.	3.940197	0.57647	23.9	0.99782980474313177	0.86955	0.93010	0.57098	D	AEFBI	0.605146	0.59597	D	0.55858176694311	0.70606	5.526295	0.560882021617525	0.72156	5.765886	0.982725904208325	0.30445	0.706548	0.73137	0	0.653731	0.59785	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.83	4.83	0.61880	4.388000	0.59397	8.574000	0.77618	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.1641:0.8358:0.0	12.893	0.57471	483	0.77230	.;Neuralized homology repeat (NHR) domain|Neuralized homology repeat (NHR) domain|Neuralized homology repeat (NHR) domain;Neuralized homology repeat (NHR) domain|Neuralized homology repeat (NHR) domain|Neuralized homology repeat (NHR) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	941.98	36	chr17	7319055	.	G	A	941.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.395;DP=787;ExcessHet=0.0000;FS=2.571;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.47;ReadPosRankSum=-8.140e-01;SOR=0.343	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,100,1484	20	0	1	0
chr17	7384513	7384513	C	A	exonic	TNK1	.	nonsynonymous SNV	TNK1:NM_001251902:exon7:c.C896A:p.A299D	.	.	418	1062	39	3	0	45	0.0207469	.	.	3217119	TNK1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.879	P	0.659	P	0.028	N	0.968	D	0.25	N	-1.65	D	-0.394	T	0.246	T	0.483	5.216	33	4.03	1.485	2.355	11.511	0.354	.	0.0066	0.00299521	0.0114	0.0023	0.0117	0	0.0014	0.0156	0.0215	0.0078	0.005912	914	154602	rs61730812	0.0083	0.0083	0.0084	0.0082	0.0250	0.0082	0.0081	0.0216	0.0203	0.0016	0.0067	0.0095	0	0.0006	0.0250	0.0094	0.0100	0.0036	0.0058	0.0058	0.0066	0.0051	0.0092	0.0055	0.0054	0.0086	0.0084	0.0018	0	0.0065	0.0072	0	0.0004	0.0408	0.0092	0.0142	0.0037	.	.	.	0.216	0.30143	T	0.853	0.48338	P	0.529	0.52771	P	0.028213	0.25637	N	0.280839	0.967537	0.38600	D	0.445	0.12748	N	-1.65	0.82625	D	.	.	.	0.451	0.55019	-0.3939	0.72219	T	0.246	0.61542	T	10	0.0139044225	0.00294	T	.	.	.	.	.	.	.	0.919329187289	0.91851	0.49443603386165175	0.49364	0.812905501583	0.66818	0.624475359917	0.56361	T	0.160806	0.50480	T	-0.29015	0.09621	T	-0.18245	0.56297	T	0.0225062001981507	0.00965	T	.	.	.	0.3468623	0.56822	0.3383932	0.59617	0.3468623	0.56822	0.3383932	0.59617	-7.8	0.59699	D	.	.	0.187	0.44847	B	.;.	.;.	4.194530	0.63243	24.6	0.99758617379124681	0.84851	0.77145	0.37899	D	AEFDGBHCI	0.501372	0.53423	D	-0.0255679916352551	0.40700	2.421557	-0.00384026937174498	0.39541	2.346067	0.999999999639966	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.519653	0.09787	0	0.554799	0.18163	0	.	.	5.0	4.03	0.46115	2.279000	0.43094	3.265000	0.37119	0.599000	0.40250	0.073000	0.22155	0.996000	0.32793	0.997000	0.79791	0.0:0.9126:0.0:0.0874	11.511	0.49744	192	0.92531	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	665.98	34	chr17	7384513	.	C	A	665.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.474;DP=722;ExcessHet=0.0000;FS=2.450;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=0.702;SOR=1.099	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1044	20	0	1	0
chr17	7386977	7386991	CCTCTTTCCACAGCC	-	exonic	TNK1	.	frameshift deletion	TNK1:NM_003985:exon9:c.1233_1234del:p.P412Rfs*105,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.221e-07	6.84e-07	1.421e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.743e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1861.94	36	chr17	7386976	.	TCCTCTTTCCACAGCC	T	1861.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.308;DP=834;ExcessHet=0.0000;FS=1.446;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.55;ReadPosRankSum=2.07;SOR=0.872	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr17	7389019	7389019	C	A	exonic	TNK1	.	nonsynonymous SNV	TNK1:NM_001251902:exon13:c.C1936A:p.R646S	.	.	427	1094	1	0	0	1	0.00045683	.	.	2273792	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.19	T	0.141	B	0.046	B	0.340	N	0.994	N	1.7	L	-1.06	T	-0.713	T	0.329	T	0.336	1.778	11.90	3.71	1.418	1.489	9.290	0.155	0.0430231825688	8.2e-05	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs375240414	4.278e-05	4.72e-05	3.238e-05	5.346e-05	0.0003	3.382e-05	3.043e-05	0.0002	0.0002	3.149e-05	0	0	0	0	0	3.054e-05	5.158e-05	0.0003	2.628e-05	2.627e-05	0	5.379e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.939e-05	0	0.0002	.	.	.	0.013	0.63109	D	0.141	0.27581	B	0.046	0.24676	B	0.340447	0.13971	N	0.635768	0.993519	0.23698	N	1.81	0.47622	L	-1.06	0.76819	T	.	.	.	0.194	0.21319	-0.7130	0.59805	T	0.329	0.69707	T	10	0.069713116	0.10041	T	0.043023	0.60770	D	.	.	.	.	0.775072296251	0.77300	0.2979536132619248	0.29708	0.210131293866	0.23496	0.260749727488	0.04981	T	0.145516	0.48268	T	-0.0326326	0.47034	T	-0.284651	0.46326	T	0.0529024936258793	0.06003	T	.	.	.	0.10378972	0.24534	0.10158465	0.24324	0.10378972	0.24533	0.10158465	0.24324	-7.335	0.56869	T	.	.	0.315	0.54108	B	.;.	.;.	3.307825	0.45438	22.1	0.98688000953371757	0.44723	0.28300	0.23516	N	AEFBI	0.131844	0.25093	N	-0.501827620405223	0.22021	1.172918	-0.429260648443221	0.24142	1.320434	0.953931397997563	0.28102	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.73	3.71	0.41733	1.250000	0.32453	3.300000	0.37375	-0.223000	0.07921	0.062000	0.21832	1.000000	0.68203	0.958000	0.51230	0.1438:0.7788:0.0:0.0774	9.290	0.36943	192	0.92531	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	969.98	37	chr17	7389019	.	C	A	969.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.674;DP=846;ExcessHet=0.0000;FS=1.940;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=-8.450e-01;SOR=1.053	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1281	20	0	1	0
chr17	7393828	7393828	G	A	exonic	PLSCR3	.	nonsynonymous SNV	PLSCR3:NM_001201576:exon3:c.C16T:p.P6S	.	.	416	1100	6	0	0	6	0.00271985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.003	B	0.002	B	0.485	N	0.900	N	0.895	L	2.21	T	-0.975	T	0.025	T	0.166	2.361	13.85	1.84	0.492	0.034	4.490	0.011	0.00765103217098	.	.	0.0005	0	0	0	0	0.0003	0	0.0006	4.53e-05	7	154602	rs776033551	0.0002	0.0002	0.0001	0.0002	0.0018	0.0001	0.0001	0.0009	0.0007	6.787e-05	0	0	0	2.955e-05	0.0018	0.0001	0.0003	0.0007	9.198e-05	9.193e-05	0.0001	8.069e-05	0.0008	5.527e-05	4.364e-05	0.0003	0.0002	0	0	0	0	0	0	0	0.0001	0	0.0008	0.203	0.20154	T	0.088	0.59159	T	0.003	0.11197	B	0.001	0.04355	B	0.484922	0.12123	N	0.755604	0.899664	0.27725	N	0.695	0.17993	N	2.21	0.18414	T	-0.01	0.07155	N	0.248	0.33360	-0.9754	0.36037	T	0.025	0.10509	T	10	0.020850748	0.00488	T	0.007651	0.20299	T	0.011	0.01250	0.241	0.17371	0.0920862733494	0.08535	0.19638091430469784	0.19555	0.543937145229	0.51462	0.510311841965	0.40267	T	0.105286	0.41562	T	-0.489248	0.00656	T	-0.614606	0.11615	T	0.0117068244508373	0.00179	T	.	.	.	0.038526773	0.05150	0.033484872	0.02253	0.038526773	0.05150	0.033484872	0.02252	-5.354	0.40474	T	.	.	0.096	0.17657	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.495202	0.19227	14.16	0.95932447410484756	0.28219	0.13424	0.17848	N	AEFDBCI	0.105097	0.21010	N	-0.839203197824919	0.12316	0.5996221	-0.723520046043165	0.16376	0.8659786	0.999994654760734	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.851219	0.99655	0	0.621717	0.48901	0	.	.	4.94	1.84	0.24348	-0.314000	0.08132	2.142000	0.30851	-0.257000	0.07002	0.002000	0.15269	0.992000	0.31684	0.962000	0.52141	0.1999:0.1861:0.6139:0.0	4.490	0.11222	193	0.92507	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	703.98	36	chr17	7393828	.	G	A	703.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.205;DP=787;ExcessHet=0.0000;FS=4.168;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.67;ReadPosRankSum=-9.400e-02;SOR=0.955	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1129	20	0	1	0
chr17	7436002	7436002	T	A	exonic	TMEM102	.	nonsynonymous SNV	TMEM102:NM_001320444:exon1:c.T131A:p.L44Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.97	D	0.001	D	0.985	D	2.075	M	0.5	T	-0.498	T	0.276	T	0.895	4.347	22.9	4.34	2.052	5.162	8.78	0.234	0.0864938645333	.	.	.	.	.	.	.	.	.	.	.	.	.	rs199750320	2.053e-06	2.052e-06	2.724e-06	1.376e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.656e-05	0	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.97	0.72226	D	0.000703	0.42254	D	0.000000	0.984647	0.40173	D	2.125	0.59049	M	0.5	0.55608	T	-1.68	0.40082	N	0.875	0.87265	-0.4984	0.68707	T	0.276	0.64814	T	10	0.72864616	0.74145	D	0.086494	0.74747	D	0.234	0.53644	0.399	0.42753	0.622080263406	0.61901	0.6506296406148349	0.64998	.	.	0.707875490189	0.68286	T	0.015517	0.12998	T	0.275668	0.80941	D	0.158201	0.80695	D	0.976260960102081	0.71301	D	.	.	.	0.70484483	0.78322	0.7793976	0.86992	0.70484483	0.78324	0.7793976	0.86993	-3.883	0.22047	T	.	.	0.716	0.73975	P	.;.	.;.	4.916325	0.80938	27.4	0.99653471096670754	0.77442	0.92373	0.55561	D	AEFDGBHCI	0.503594	0.53551	D	0.668813434881463	0.77592	6.704231	0.637150385691015	0.77655	6.721741	0.999999999999973	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.42	4.34	0.51267	4.287000	0.58794	7.919000	0.74425	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0884:0.0:0.9116	8.78	0.33944	301	0.87912	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1793.98	35	chr17	7436002	.	T	A	1793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.155;DP=818;ExcessHet=0.0000;FS=2.590;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.59;ReadPosRankSum=3.62;SOR=0.481	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr17	7436176	7436196	TCCGTTCCCTTTTTTTAGGTC	-	exonic	TMEM102	.	nonframeshift deletion	TMEM102:NM_001320444:exon2:c.215_217del:p.G72_L73delinsV	.	.	392	1118	12	0	0	12	0.00533808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0046	0.00279553	0.0071	0.0017	0.0038	0.0001	0.0056	0.0109	0.0068	0.0012	0.001191	31	26028	rs537361079	0.0081	0.0080	0.0082	0.0080	0.0095	0.0080	0.0079	0.0093	0.0092	0.0012	0.0040	0.0061	2.532e-05	0.0066	0.0040	0.0095	0.0068	0.0016	0.0060	0.0060	0.0062	0.0059	0.0098	0.0057	0.0056	0.0092	0.0089	0.0017	0	0.0053	0.0063	0.0002	0.0047	0.0102	0.0098	0.0076	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1954.94	35	chr17	7436175	.	ATCCGTTCCCTTTTTTTAGGTC	A	1954.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.52;DP=914;ExcessHet=0.0000;FS=8.043;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.08;ReadPosRankSum=-3.200e-01;SOR=1.255	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485	20	0	1	0
chr17	7436563	7436563	G	T	exonic	TMEM102	.	nonsynonymous SNV	TMEM102:NM_001320444:exon2:c.G584T:p.S195I	.	.	432	1081	9	0	0	9	0.00414556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.047	B	0.017	B	0.435	N	1.000	N	1.1	L	0.84	T	-0.982	T	0.096	T	0.147	0.680	7.637	-1.6	-0.429	0.151	5.041	0.015	0.0193073618394	7.7e-05	0.00139776	0.0007	0	0	0.0001	0	0.0002	0	0.0040	0.0005886	91	154602	rs141257669	0.0004	0.0004	0.0003	0.0006	0.0046	0.0004	0.0004	0.0042	0.0041	2.987e-05	2.236e-05	3.826e-05	0	5.632e-05	0.0007	0.0002	0.0003	0.0046	0.0003	0.0003	0.0002	0.0004	0.0050	0.0002	0.0002	0.0034	0.0029	2.405e-05	0	6.533e-05	0	0	0	0	0.0003	0	0.0050	0.022	0.48642	D	0.039	0.51112	D	0.047	0.21998	B	0.017	0.18140	B	0.434760	0.04725	N	1.333950	1	0.08975	N	1.1	0.28011	L	0.84	0.47477	T	0.33	0.03889	N	0.099	0.11197	-0.9817	0.34608	T	0.096	0.36107	T	10	0.0027632415	0.00043	T	0.019307	0.41638	T	0.015	0.02232	.	.	0.218112801441	0.21410	0.214915129252313	0.21407	.	.	0.233794212341	0.02260	T	0.003231	0.02636	T	-0.556837	0.00265	T	-0.572094	0.15259	T	0.0130386946298498	0.00227	T	.	.	.	0.1353944	0.31424	0.05465924	0.09443	0.1353944	0.31424	0.05465924	0.09443	-5.857	0.45067	T	.	.	0.106	0.19919	B	.;.	.;.	1.236927	0.16323	12.46	0.95449092448098494	0.26966	0.07728	0.13729	N	ALL	0.056827	0.10537	N	-1.09987454326042	0.06646	0.3065273	-1.16062008243892	0.06579	0.3171468	0.999999999921669	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.3	-1.6	0.07977	0.252000	0.18046	1.109000	0.24140	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4415:0.1477:0.4109:0.0	5.041	0.13797	301	0.87912	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2894.98	35	chr17	7436563	.	G	T	2894.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.145e+00;DP=916;ExcessHet=0.0000;FS=4.066;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.55;ReadPosRankSum=-7.990e-01;SOR=0.923	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr17	7437217	7437217	A	G	exonic	TMEM102	.	nonsynonymous SNV	TMEM102:NM_001320444:exon2:c.A1238G:p.Y413C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.986	D	0.000	D	0.973	D	1.1	L	3.1	T	-1.139	T	0.045	T	0.79	3.813	19.36	5.18	1.952	5.557	11.407	0.252	0.0878034843168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.0	0.92824	D	1.0	0.90584	D	0.986	0.76916	D	0.000354	0.45440	D	0.000000	0.972869	0.38979	D	1.61	0.41143	L	3.1	0.08283	T	-2.61	0.56144	D	0.688	0.71498	-1.1390	0.01396	T	0.045	0.19194	T	10	0.74049985	0.74923	D	0.087803	0.75008	D	0.252	0.56159	0.523	0.62668	0.395595088485	0.39173	0.6142878255820265	0.61360	.	.	0.93282020092	0.99139	D	0.032255	0.22404	T	0.0259159	0.55177	T	-0.20055	0.54595	T	0.969409108161926	0.68578	D	.	.	.	0.21149339	0.43475	0.18444009	0.41496	0.21149339	0.43475	0.18444009	0.41495	-5.214	0.39084	T	.	.	0.678	0.73153	P	.;.	.;.	4.914857	0.80898	27.4	0.99703130366356252	0.80798	0.53130	0.29297	D	ALL	0.740362	0.68463	D	0.553700528878806	0.70309	5.482478	0.563234359752547	0.72324	5.79179	1.0	0.98316	0.652421	0.48094	0	0.748881	0.99253	0	0.47417	0.07244	0	0.618803	0.45993	0	.	.	5.18	5.18	0.71140	4.626000	0.60968	9.116000	0.78823	0.658000	0.54486	0.950000	0.33075	1.000000	0.68203	0.964000	0.52637	1.0:0.0:0.0:0.0	11.407	0.49146	301	0.87912	Mab-21 domain|Mab-21 domain;Mab-21 domain|Mab-21 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	802.98	28	chr17	7437217	.	A	G	802.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=713;ExcessHet=0.0000;FS=1.185;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.39;ReadPosRankSum=0.644;SOR=1.022	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1241	20	0	1	0
chr17	7466222	7466222	C	T	exonic	ZBTB4	.	nonsynonymous SNV	ZBTB4:NM_001128833:exon3:c.G580A:p.A194T	.	.	407	1111	4	0	0	4	0.00179695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.001	B	0.002	B	0.015	N	0.997	N	0	N	3.71	T	-0.920	T	0.008	T	0.075	2.188	13.27	3.78	1.213	1.424	8.951	0.023	.	.	0.00379393	0.0025	0	0.0002	0	0	0	0.0024	0.0172	0.0020181	312	154602	rs566002388	0.0011	0.0011	0.0006	0.0016	0.0181	0.0011	0.0010	0.0173	0.0170	2.987e-05	2.236e-05	0	2.519e-05	0	0.0007	6.295e-06	0.0009	0.0181	0.0005	0.0005	0.0003	0.0008	0.0161	0.0004	0.0004	0.0133	0.0122	0	0	0	0	0.0002	0	0.0034	0	0	0.0161	0.037	0.43085	D	0.127	0.35082	T	0.001	0.07471	B	0.002	0.06944	B	0.015140	0.28333	N	0.285757	0.997216	0.22748	N	1.245	0.31408	L	3.71	0.04046	T	-0.18	0.09796	N	0.195	0.21449	-0.9204	0.45499	T	0.008	0.02720	T	10	0.0038846135	0.00074	T	.	.	.	0.023	0.04649	0.203	0.11797	0.043077524339	0.03247	0.1493737635848845	0.14859	1.09603112824	0.77576	0.540101289749	0.44460	T	0.004364	0.03768	T	-0.638747	0.00085	T	-0.676667	0.07188	T	0.0379875004435837	0.03329	T	.	.	.	0.07033331	0.15484	0.08113084	0.18412	0.07033331	0.15484	0.08113084	0.18411	-4.957	0.36370	T	.	.	0.078	0.09868	B	.;.	.;.	2.655630	0.34589	19.67	0.99710134291659169	0.81283	0.40424	0.26433	N	AEFDBI	0.049682	0.08608	N	-0.437381655119132	0.24170	1.303191	-0.240011870319383	0.30117	1.692996	0.990756761786439	0.32258	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.76	3.78	0.42629	1.008000	0.29475	1.806000	0.28922	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.968000	0.53726	0.0:0.8193:0.0:0.1807	8.951	0.34950	180	0.92993	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1218.98	41	chr17	7466222	.	C	T	1218.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.233;DP=839;ExcessHet=0.0000;FS=0.856;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.87;ReadPosRankSum=-3.570e-01;SOR=0.671	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1345	20	0	1	0
chr17	7508957	7508957	G	A	exonic	POLR2A	.	nonsynonymous SNV	POLR2A:NM_000937:exon21:c.G3479A:p.R1160H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.869	P	0.362	B	0.000	D	1.000	D	3.14	M	-0.31	T	-0.033	T	0.387	T	0.57	4.802	27.1	5.51	2.611	8.914	18.253	0.413	0.0240717220099	0.0002	.	4.12e-05	9.61e-05	8.637e-05	0.0001	0	1.5e-05	0	6.06e-05	3.23e-05	5	154602	rs368844855	9.872e-06	8.209e-06	1.305e-05	6.64e-06	6.008e-05	5.26e-06	4.16e-06	2.355e-05	1.474e-05	3.802e-05	5.363e-05	0	5.95e-05	0	0	3.145e-06	0	6.008e-05	2.63e-05	2.627e-05	3.856e-05	1.346e-05	6.552e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.83e-05	0	6.552e-05	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2084.98	44	chr17	7508957	.	G	A	2084.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.53;DP=1336;ExcessHet=0.0000;FS=1.996;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=0.679;SOR=0.885	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr17	7513182	7513202	TCACCCAGCTATTCGCCAACG	-	exonic	POLR2A	.	nonframeshift deletion	POLR2A:NM_000937:exon29:c.4918_4938del:p.S1740_P1746del,	.	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs766964491	2.962e-05	2.873e-05	2.447e-05	3.486e-05	0.0001	2.168e-05	1.924e-05	3.6e-05	2.183e-05	0	0.0001	0	0	0	0	2.516e-05	9.087e-05	4.806e-05	8.073e-05	0.0001	6.566e-05	9.656e-05	0.0002	4.597e-05	3.591e-05	1.988e-05	1.135e-05	5.004e-05	0.0011	6.71e-05	0	0	0	0.0075	5.951e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2782.07	33	chr17	7513181	.	ATCACCCAGCTATTCGCCAACG	A	2782.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.41;DP=1481;ExcessHet=0.1072;FS=3.030;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.99;MQRankSum=0.00;QD=5.63;ReadPosRankSum=0.932;SOR=0.930	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:49,0:49:99:.:.:0,120,1800	19	0	2	0
chr17	7513349	7513349	-	TCTCCCAGCTACTCGCCGACA	exonic	POLR2A	.	nonframeshift insertion	POLR2A:NM_000937:exon29:c.5085_5086insTCTCCCAGCTACTCGCCGACA:p.P1746_N1747insSYSPTSP,	.	.	478	1040	1	0	3	4	0.000480538	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.011e-05	0.0001	3.89e-05	4.134e-05	0.0007	3.091e-05	2.77e-05	0.0002	9.991e-05	4.17e-05	3.375e-05	0	0	0	0.0007	3.534e-05	0.0001	5.138e-05	6.784e-05	0.0001	1.869e-05	0.0001	0.0002	3.114e-05	2.208e-05	3.305e-05	1.359e-05	3.891e-05	0	0.0002	0	0	0	0.0179	4.057e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	15018.07	198	chr17	7513349	.	G	GTCTCCCAGCTACTCGCCGACA	15018.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.294;DP=3659;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.96;MQRankSum=0.00;QD=31.82;ReadPosRankSum=5.04;SOR=0.629	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	19	0	2	0
chr17	7572858	7572858	A	G	exonic	EIF4A1	.	nonsynonymous SNV	EIF4A1:NM_001204510:exon1:c.A17G:p.D6G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.054	B	0.024	B	.	.	1.000	D	0.895	L	1.76	T	-1.100	T	0.047	T	0.688	3.282	17.02	4.86	2.029	4.234	10.757	0.137	0.0134953056642	.	.	.	.	.	.	.	.	.	.	.	.	.	rs950953435	6.841e-06	6.84e-06	5.445e-06	8.251e-06	2.519e-05	3.46e-06	2.52e-06	2.62e-06	1.68e-06	0	0	0	2.519e-05	0	0	6.295e-06	3.312e-05	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.411e-05	2.18e-06	8.2e-07	.	.	2.411e-05	0	0	0	0	0	0	1.47e-05	0	0	0.016	0.51853	D	0.096	0.67890	T	0.054	0.22658	B	0.021	0.19346	B	.	.	.	.	0.986904	0.81001	D	1.905	0.50856	L	3.5	0.25996	T	-0.74	0.20791	N	0.556	0.58117	-1.0996	0.04140	T	0.047	0.20116	T	9	0.24532759	0.41778	T	0.013495	0.32933	T	0.137	0.36984	.	.	0.70258580727	0.70000	0.6484989586206028	0.64785	5.55450975E-4	0.00054	.	.	.	0.190895	0.54557	T	0.0242089	0.54948	T	-0.203002	0.54361	T	0.897387981414795	0.54928	D	0.90231	0.66829	D	0.30487674	0.53339	0.4584474	0.68534	0.30487674	0.53339	0.4584474	0.68535	-3.013	0.11504	T	.	.	0.157	0.42948	B	.;.;.;.;.;.	.;.;.;.;.;.	5.387243	0.90267	31	0.95331059525212258	0.26690	0.98666	0.85331	D	AEFGBHCIJ	0.816363	0.73811	D	-0.0628425921451657	0.39030	2.295254	0.112650936602488	0.45193	2.786976	0.999999999999191	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.86	4.86	0.62624	4.231000	0.58439	11.062000	0.85454	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	10.757	0.45440	460	0.78750	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1322.98	33	chr17	7572858	.	A	G	1322.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.275e+00;DP=792;ExcessHet=0.0000;FS=5.119;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=0.216;SOR=0.632	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1250	20	0	1	0
chr17	7580115	7580115	G	A	exonic	CD68	.	nonsynonymous SNV	CD68:NM_001040059:exon2:c.G274A:p.A92T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.001	B	0.006	B	.	.	1.000	N	0.11	N	1.44	T	-0.960	T	0.029	T	0.204	1.208	9.904	-7.13	-1.247	-0.264	8.661	0.022	0.0154466429848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.02495	T	1.0	0.01155	T	0.001	0.07471	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	0.235	0.09667	N	1.44	0.32722	T	0.42	0.03352	N	0.028	0.00942	-0.9600	0.39181	T	0.029	0.12234	T	9	0.022825927	0.00580	T	0.015447	0.36188	T	0.022	0.04323	0.407	0.44066	0.185906805712	0.18197	0.406610917296042	0.40577	0.101639587163	0.11499	0.204516500235	0.00600	T	0.098091	0.40157	T	-0.263357	0.12511	T	-0.616071	0.11497	T	0.124516799449829	0.14865	T	0.60024	0.23205	T	0.03725211	0.04739	0.05914303	0.11051	0.03725211	0.04738	0.05914303	0.11050	-4.144	0.32121	T	.	.	0.062	0.02118	B	.;.;.	.;.;.	-0.018326	0.04159	0.998	0.7543691481177246	0.11075	0.01056	0.03928	N	AEFDGBHCI	0.327462	0.42842	N	-1.46333754266101	0.02114	0.09301216	-1.47573564260165	0.02544	0.117214	0.9999999999884	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.459711	0.06710	0	0.735409	0.98432	0	.	.	5.22	-7.13	0.01379	-0.601000	0.05783	-1.348000	0.05654	-0.153000	0.12021	0.002000	0.15269	0.000000	0.08366	0.948000	0.49324	0.7055:0.0:0.1706:0.124	8.661	0.33253	483	0.77230	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3213.98	33	chr17	7580115	.	G	A	3213.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.772e+00;DP=983;ExcessHet=0.0000;FS=2.018;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.73;ReadPosRankSum=-1.020e-01;SOR=0.573	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1103	20	0	1	0
chr17	7670630	7670630	C	A	exonic	TP53	.	nonsynonymous SNV	TP53:NM_001126115:exon6:c.G683T:p.G228V	Adrenal cortical carcinoma, Autosomal recessive;Breast cancer, Autosomal dominant;Choroid plexus papilloma, Autosomal dominant;Colorectal cancer, Autosomal dominant;Hepatocellular carcinoma, Somatic mutation;Li-Fraumeni syndrome, Autosomal dominant;Nasopharyngeal carcinoma;Osteosarcoma, Autosomal recessive;Pancreatic cancer, Autosomal dominant, Somatic mutation, Multifactorial	YES	.	.	.	.	.	.	.	.	.	152266	Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_specified|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.07	T	0.012	B	0.04	B	0.664	N	0.996	N	2.25	M	-5.49	D	0.716	D	0.921	D	0.15	-0.563	1.459	0.932	-0.279	-0.015	4.719	0.325	0.195512277915	.	.	5.224e-05	0	0	0	0.0002	7.82e-05	0	0	3.88e-05	6	154602	rs35993958	4.174e-05	4.173e-05	4.765e-05	3.576e-05	6.711e-05	3.311e-05	3.001e-05	3.343e-05	2.956e-05	0	6.711e-05	0	2.519e-05	9.365e-05	0	4.317e-05	3.312e-05	2.32e-05	8.544e-05	8.537e-05	2.57e-05	0.0001	6.556e-05	4.958e-05	3.964e-05	1.171e-05	6.25e-06	2.412e-05	0	6.556e-05	0	0	0.0008	0	4.41e-05	0	0	0.316	0.13744	T	0.257	0.25591	T	0.012	0.16265	B	0.04	0.23831	B	0.663504	0.10406	N	0.845077	0.996369	0.23037	N	1.75	0.45442	L	-5.49	0.99138	D	0.68	0.02228	N	0.365	0.45520	0.716	0.93374	D	0.921	0.97395	D	10	0.09957361	0.18079	T	0.195512	0.86426	D	0.325	0.64725	0.155	0.05858	0.755418883554	0.75320	0.3404412619522595	0.33957	0.132162359655	0.14894	0.256064116955	0.04433	T	0.36885	0.73367	T	-0.123809	0.32502	T	-0.211069	0.53594	T	0.0192148322353784	0.00628	T	0.531747	0.20891	T	0.05720615	0.11356	0.07868565	0.17647	0.05720615	0.11356	0.07868565	0.17647	-5.048	0.37780	T	0.38327875784568266	0.47741	0.077	0.10739	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.164379	0.05545	2.003	0.27338565953744215	0.01352	0.19982	0.20870	N	AEFBI	0.214301	0.33979	N	-1.37262766822357	0.02897	0.1286086	-1.4143170476447	0.03108	0.144354	1.05561642023614E-4	0.05123	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.43	0.932	0.18591	0.024000	0.13447	0.573000	0.19627	-0.816000	0.03012	0.000000	0.06391	0.097000	0.22620	0.092000	0.17891	0.0:0.3948:0.1635:0.4417	4.719	0.12291	450	0.79359	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	899.98	35	chr17	7670630	.	C	A	899.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.600e-01;DP=755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=0.610;SOR=0.760	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1180	20	0	1	0
chr17	7758572	7758572	C	T	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon14:c.C2129T:p.P710L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.999	D	0.000	D	1.000	D	2.85	M	0.36	T	-0.172	T	0.418	T	0.603	5.163	32	5.91	2.809	6.874	19.073	0.446	0.0275278183198	.	.	4.121e-05	0.0002	0	0	0	4.496e-05	0	0	3.23e-05	5	154602	rs778991094	3.694e-05	3.694e-05	3.267e-05	4.125e-05	5.974e-05	2.894e-05	2.592e-05	3.373e-05	3.038e-05	5.974e-05	2.236e-05	0	2.519e-05	0	0	4.406e-05	1.656e-05	0	9.203e-05	9.194e-05	0.0001	8.075e-05	0.0003	5.53e-05	4.366e-05	0.0002	0.0001	0.0003	0	6.55e-05	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.98	0.85499	M	0.36	0.57880	T	-8.03	0.96581	D	0.718	0.75834	-0.1719	0.78382	T	0.418	0.76422	T	10	0.7411179	0.74964	D	0.027528	0.50329	D	0.446	0.74797	.	.	0.60361576897	0.60044	0.8878294434246381	0.88751	0.962073559811	0.73047	0.660084724426	0.61421	T	0.298706	0.67125	T	-0.139679	0.29941	T	-0.158981	0.58444	T	0.967608034610748	0.67964	D	0.938406	0.76842	D	0.6797611	0.76956	0.67748857	0.81058	0.6797611	0.76957	0.67748857	0.81059	-7.761	0.59430	D	.	.	0.567	0.67492	P	.;.	.;.	5.116819	0.85570	28.6	0.9991725621337475	0.98518	0.97154	0.73007	D	AEFDBI	0.771768	0.70630	D	0.913622083711754	0.92412	11.40783	0.883505387569979	0.94813	13.06354	0.999999413941121	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.91	5.91	0.95240	6.932000	0.75683	7.674000	0.64943	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:1.0:0.0:0.0	19.073	0.93128	214	0.91692	Dynein heavy chain, domain-1;Dynein heavy chain, domain-1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	834.98	34	chr17	7758572	.	C	T	834.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.26;DP=795;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.61;ReadPosRankSum=-1.931e+00;SOR=0.745	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1198	20	0	1	0
chr17	7768033	7768033	G	A	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon23:c.G3809A:p.R1270H,	.	.	430	1071	21	0	0	21	0.00970874	.	.	3208312	DNAH2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.08	T	0.995	D	0.909	D	0.002	N	1.000	D	1.92	M	0.11	T	-0.472	T	0.254	T	0.475	3.875	19.69	4.27	1.929	2.251	15.463	0.356	.	0.0013	0.00319489	0.0051	9.634e-05	0.0003	0.0001	0.0166	0.0030	0.0121	0.0173	0.0043855	678	154602	rs141149043	0.0029	0.0029	0.0024	0.0034	0.0185	0.0028	0.0028	0.0178	0.0175	0.0003	0.0007	0.0097	7.557e-05	0.0119	0.0076	0.0013	0.0033	0.0185	0.0028	0.0028	0.0020	0.0036	0.0178	0.0026	0.0025	0.0148	0.0137	0.0002	0	0.0010	0.0058	0.0002	0.0139	0	0.0021	0.0024	0.0178	0.009	0.57480	D	.	.	.	0.995	0.67487	D	0.909	0.64565	D	0.001517	0.38793	N	0.160409	0.994347	0.42247	D	2.215	0.62545	M	0.11	0.61208	T	-3.17	0.64363	D	0.481	0.51583	-0.4725	0.69637	T	0.254	0.62417	T	10	0.014341354	0.00302	T	.	.	.	0.356	0.67691	.	.	0.620183206235	0.61710	0.3107758234507111	0.30990	1.02590431471	0.75273	0.471004635096	0.34819	T	0.374196	0.73804	T	-0.357406	0.04279	T	-0.271229	0.47694	T	0.0492212625266031	0.05363	T	0.843016	0.51993	T	0.32281244	0.54876	0.2963498	0.55667	0.32281244	0.54876	0.2963498	0.55666	-5.303	0.39973	T	.	.	0.102	0.17911	B	.;.	.;.	4.797356	0.77915	26.8	0.99954289304848509	0.99963	0.72654	0.35554	D	AEFGBI	0.148482	0.27238	N	0.475716336435347	0.65675	4.852478	0.429223987255424	0.63391	4.572144	3.60856463058229E-4	0.06668	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.27	4.27	0.50009	2.811000	0.47685	7.577000	0.60860	0.618000	0.50648	0.989000	0.36753	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	15.463	0.75106	230	0.91032	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4211.11	33	chr17	7768033	.	G	A	4211.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.618;DP=994;ExcessHet=0.1072;FS=2.913;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=2.45;SOR=0.602	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1227	19	0	2	0
chr17	7774767	7774767	G	A	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon29:c.G4510A:p.D1504N,	.	.	422	1099	1	0	0	1	0.000454752	.	.	3216930	DNAH2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.17	T	0.001	B	0.006	B	0.000	D	1.000	D	0.44	N	0.11	T	-1.097	T	0.027	T	0.047	2.664	14.87	5.59	2.646	6.918	18.372	0.093	.	0.0012	0.00878594	0.0112	0.0006	0.0914	0.0010	0.0015	0.0020	0.0057	0.0081	0.0101874	1575	154602	rs79662110	0.0039	0.0039	0.0042	0.0036	0.0809	0.0038	0.0038	0.0787	0.0778	0.0009	0.0809	0.0003	0.0013	0.0019	0.0003	0.0009	0.0035	0.0080	0.0051	0.0051	0.0045	0.0056	0.0373	0.0048	0.0046	0.0348	0.0338	0.0009	0	0.0373	0.0012	0.0023	0.0010	0.0034	0.0013	0.0052	0.0068	0.389	0.10874	T	.	.	.	0.001	0.07471	B	0.006	0.12133	B	0.000238	0.47286	D	0.181735	0.994929	0.42472	D	1.31	0.32734	L	0.11	0.61208	T	-2.0	0.46146	N	0.315	0.35727	-1.0970	0.04474	T	0.027	0.11574	T	10	0.003359288	0.00058	T	.	.	.	0.093	0.26882	.	.	.	.	0.26625961875772436	0.26538	0.39640834386	0.40755	0.39069879055	0.23769	T	0.133061	0.46351	T	-0.582022	0.00187	T	-0.543725	0.17933	T	0.0222472712701815	0.00936	T	0.878912	0.59457	D	0.19226654	0.40889	0.21500468	0.46073	0.19226654	0.40889	0.21500468	0.46072	-4.784	0.34404	T	.	.	0.076	0.05935	B	.;.	.;.	3.078367	0.41403	21.3	0.9914419719411931	0.53627	0.94761	0.62239	D	AEFDBCI	0.764080	0.70098	D	0.00642196003444505	0.42146	2.533987	0.227448752569345	0.51377	3.320652	0.999999999999905	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.59	5.59	0.84677	7.187000	0.77268	11.909000	0.99543	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.895000	0.43227	0.0:0.0:1.0:0.0	18.372	0.90354	240	0.90628	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1531.98	34	chr17	7774767	.	G	A	1531.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.656;DP=812;ExcessHet=0.0000;FS=0.706;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=0.704;SOR=0.564	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1309	20	0	1	0
chr17	7780180	7780180	C	T	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon37:c.C5746T:p.P1916S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.32	H	2.43	T	-0.213	T	0.243	T	0.94	5.068	31	5.35	2.785	7.486	17.993	0.583	0.0186367061826	.	.	8.238e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs778705349	6.842e-06	6.84e-06	2.723e-06	1.1e-05	0.0002	3.46e-06	2.52e-06	7.43e-06	2.78e-06	0	4.483e-05	0	0	0	0.0002	4.497e-06	1.656e-05	1.16e-05	6.571e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.0	0.91255	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.3	0.98261	H	2.43	0.15261	T	-7.88	0.96142	D	0.892	0.89131	-0.2131	0.77333	T	0.243	0.61142	T	10	0.7943549	0.78937	D	0.018637	0.40769	T	0.583	0.83249	0.442	0.49811	0.442261297928	0.43845	0.8946798032053074	0.89438	0.956921499825	0.72854	0.692947506905	0.66129	T	0.282496	0.65524	T	0.176265	0.71699	D	0.116046	0.77972	D	0.999562561511993	0.97934	D	0.999243	0.99707	D	0.92077696	0.93323	0.83970267	0.90818	0.92077696	0.93324	0.83970267	0.90819	-10.075	0.74360	D	.	.	0.873	0.81035	P	.;.	.;.	4.897331	0.80455	27.3	0.99923468511293612	0.98917	0.99538	0.97210	D	AEFBI	0.880348	0.80693	D	1.08294850344944	0.97805	16.80187	0.976275222050339	0.98113	17.459	0.999999994445811	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.35	5.35	0.76297	7.631000	0.82408	7.704000	0.66446	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.0:1.0:0.0:0.0	17.993	0.89097	249	0.90233	Dynein heavy chain, hydrolytic ATP-binding dynein motor region D1|AAA+ ATPase domain;Dynein heavy chain, hydrolytic ATP-binding dynein motor region D1|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	964.98	38	chr17	7780180	.	C	T	964.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.412e+00;DP=799;ExcessHet=0.0000;FS=1.623;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.28;ReadPosRankSum=0.952;SOR=0.498	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1422	20	0	1	0
chr17	7794327	7794327	G	A	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon49:c.G7643A:p.R2548H,	.	.	415	1100	7	0	0	7	0.00317173	.	.	2814858	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.947	P	0.708	P	0.000	D	1.000	D	0.13	N	-0.2	T	-0.921	T	0.129	T	0.868	4.892	28.1	5.83	2.769	5.638	18.890	0.402	0.0111905193113	0.0054	0.00399361	0.0046	0.0009	0.0024	0	0.0031	0.0067	0.0033	0.0029	0.004877	754	154602	rs11656500	0.0066	0.0066	0.0067	0.0064	0.0077	0.0064	0.0064	0.0076	0.0075	0.0012	0.0026	0.0023	2.559e-05	0.0027	0.0010	0.0077	0.0053	0.0039	0.0047	0.0047	0.0045	0.0049	0.0075	0.0045	0.0043	0.0069	0.0067	0.0014	0.0351	0.0048	0.0012	0	0.0020	0.0034	0.0075	0.0043	0.0031	0.065	0.36310	T	.	.	.	0.947	0.53479	P	0.708	0.54437	P	0.000013	0.62929	D	0.061409	0.999987	0.54805	D	-0.225	0.03956	N	-0.2	0.66113	T	-3.3	0.65858	D	0.4	0.44090	-0.9207	0.45458	T	0.129	0.43867	T	10	0.013890773	0.00293	T	0.011191	0.28559	T	0.402	0.71558	.	.	0.570543898189	0.56720	0.5127155948399713	0.51193	0.494379623259	0.47999	0.728341758251	0.71264	T	0.204485	0.56327	T	-0.101338	0.36203	T	0.0910532	0.76316	D	0.0292887383514319	0.01882	T	0.957304	0.83911	D	0.28714183	0.51726	0.23465924	0.48688	0.28714183	0.51726	0.23465924	0.48687	-8.041	0.61350	D	.	.	0.182	0.39562	B	.;.	.;.	4.981156	0.82510	27.8	0.99932708923725766	0.99439	0.96575	0.69827	D	AEFDBI	0.690709	0.65095	D	0.282876258352769	0.55279	3.692153	0.41244457907558	0.62339	4.447709	0.999075035344742	0.38370	0.616025	0.39624	0	0.59043	0.45803	0	0.574621	0.27300	0	0.530356	0.10902	0	.	.	5.83	5.83	0.93059	5.548000	0.66963	11.782000	0.96139	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	18.890	0.92366	343	0.85802	AAA+ ATPase domain;AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1482.98	39	chr17	7794327	.	G	A	1482.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.775;DP=811;ExcessHet=0.0000;FS=2.588;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.68;ReadPosRankSum=1.16;SOR=0.809	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1477	20	0	1	0
chr17	7818947	7818947	C	A	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon71:c.C10699A:p.L3567M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.18	H	-0.48	T	0.270	D	0.619	D	0.643	3.237	16.85	3.31	2.228	1.894	6.236	0.577	0.0228389710333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	1.0	0.97372	D	0.000013	0.62929	D	0.000000	0.977628	0.39384	D	4.71	0.99496	H	-0.48	0.70249	T	-1.92	0.44657	N	0.628	0.64223	0.270	0.87065	D	0.619	0.86547	D	10	0.46030658	0.59243	T	0.022839	0.45763	T	0.577	0.82912	0.448	0.50793	0.762071947071	0.75990	0.5012395032699735	0.50045	0.935998751348	0.72014	0.669652223587	0.62789	T	0.245489	0.61480	T	0.132177	0.67574	D	-0.0479134	0.67165	D	0.999145030975342	0.96328	D	0.908909	0.76145	D	0.5383714	0.69305	0.43384418	0.66924	0.5383714	0.69306	0.43384418	0.66924	-12.343	0.86481	D	.	.	0.484	0.63844	A	.;.;.	.;.;.	3.993262	0.58790	24.0	0.9963308145023001	0.76142	0.90476	0.51684	D	AEFDGBI	0.286600	0.39894	N	0.733228280234832	0.81812	7.610343	0.577038247275588	0.73295	5.947494	0.00640922402816573	0.11209	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	4.31	3.31	0.37025	2.267000	0.42986	1.727000	0.28301	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.7233:0.0:0.2767	6.236	0.19975	292	0.88363	Dynein heavy chain, ATP-binding dynein motor region D5;Dynein heavy chain, ATP-binding dynein motor region D5;Dynein heavy chain, ATP-binding dynein motor region D5	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1092.98	40	chr17	7818947	.	C	A	1092.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.213e+00;DP=838;ExcessHet=0.0000;FS=0.874;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=0.852;SOR=0.892	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	20	0	1	0
chr17	7830345	7830345	C	T	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon78:c.C11899T:p.P3967S,	.	.	425	1082	15	0	0	15	0.00688389	.	.	704403	DNAH2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.0	B	0.004	B	0.658	N	1.000	N	0.195	N	3.11	T	-0.935	T	0.008	T	0.222	-0.627	1.222	-2.96	-0.083	-0.737	2.580	0.035	0.00205329172863	0.0021	0.00119808	0.0028	0.0003	0.0015	0	0	0.0044	0.0022	0.0010	0.0025161	389	154602	rs149406306	0.0024	0.0024	0.0023	0.0025	0.0160	0.0024	0.0023	0.0133	0.0123	0.0005	0.0021	0.0236	2.519e-05	0.0001	0.0160	0.0022	0.0040	0.0008	0.0024	0.0024	0.0026	0.0022	0.0048	0.0022	0.0021	0.0039	0.0036	0.0006	0	0.0048	0.0260	0.0002	0	0.0034	0.0023	0.0033	0.0010	0.627	0.05198	T	0.659	0.06533	T	0.0	0.02946	B	0.004	0.10090	B	0.658470	0.05965	N	1.159560	1	0.08975	N	0.895	0.22405	L	3.11	0.08194	T	-0.04	0.07590	N	0.104	0.08786	-0.9354	0.43333	T	0.008	0.02801	T	10	0.004812062	0.00102	T	0.002053	0.03748	T	0.035	0.08770	.	.	0.124217242631	0.12060	0.1587861830143489	0.15799	0.274421442702	0.29933	0.300274163485	0.10441	T	0.015995	0.13307	T	-0.618727	0.00112	T	-0.665526	0.07898	T	0.00263562579694422	0.00027	T	0.693931	0.30359	T	0.06966676	0.15284	0.07255256	0.15666	0.06966676	0.15283	0.07255256	0.15666	-4.262	0.27641	T	.	.	0.063	0.01387	B	.;.;.	.;.;.	-0.027235	0.04097	0.964	0.38510695887481283	0.02602	0.06659	0.12677	N	AEFBI	0.054567	0.09932	N	-0.998363504325872	0.08639	0.405821	-0.984771868095073	0.10126	0.5080766	0.035612651969851	0.14208	0.446893	0.09132	0	0.563428	0.19063	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	5.55	-2.96	0.05212	-0.699000	0.05188	-1.498000	0.05304	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.691000	0.33868	0.1004:0.4046:0.2067:0.2883	2.580	0.04523	290	0.88477	Dynein heavy chain domain;Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	836.98	34	chr17	7830345	.	C	T	836.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=764;ExcessHet=0.0000;FS=3.075;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.33;ReadPosRankSum=0.971;SOR=1.074	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1171	20	0	1	0
chr17	7846277	7846277	C	T	exonic	KDM6B	.	nonsynonymous SNV	KDM6B:NM_001080424:exon6:c.C436T:p.R146C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.994	D	0.799	P	0.002	N	1.000	D	0.895	L	3.11	T	-1.143	T	0.035	T	0.652	3.286	17.03	4.48	2.496	2.667	15.039	0.160	0.0110084065525	0.0002	.	6.609e-05	0	0	0	0.0002	6.847e-05	0	0.0001	4.53e-05	7	154602	rs150425333	1.164e-05	1.163e-05	1.09e-05	1.238e-05	0.0003	7.09e-06	5.8e-06	6.092e-05	2.521e-05	2.989e-05	0	0	0	3.764e-05	0.0003	8.096e-06	0	3.483e-05	2.628e-05	2.627e-05	1.285e-05	4.034e-05	0.0002	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0.0002	0	0	4.411e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	0.994	0.66517	D	0.799	0.58136	P	0.002281	0.36846	N	0.112392	0.999971	0.53665	D	0.805	0.20218	L	3.11	0.08194	T	-2.29	0.50992	N	0.671	0.67908	-1.1433	0.01240	T	0.035	0.15074	T	10	0.19669065	0.35571	T	0.011008	0.28187	T	0.160	0.41473	.	.	0.179529687257	0.17594	0.6106432386851053	0.60996	0.158631535098	0.17909	0.591504454613	0.51705	T	0.139089	0.47294	T	-0.167245	0.25653	T	-0.296484	0.45094	T	0.294081020263963	0.24759	T	0.886911	0.65732	D	0.24037758	0.46940	0.14674096	0.34753	0.24037758	0.46940	0.14674096	0.34752	-8.512	0.64508	D	.	.	0.182	0.47172	B	.;.;.	.;.;.	4.978016	0.82433	27.8	0.99842182395142554	0.92229	0.84016	0.43103	D	AEFBI	0.442960	0.50047	N	0.450867818875119	0.64251	4.675612	0.461677426954175	0.65471	4.827914	0.999999999437025	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.48	4.48	0.53973	2.108000	0.41478	7.608000	0.61804	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.982000	0.59238	0.0:1.0:0.0:0.0	15.039	0.71441	298	0.88068	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2262.98	33	chr17	7846277	.	C	T	2262.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=918;ExcessHet=0.0000;FS=3.074;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.39;ReadPosRankSum=-1.274e+00;SOR=0.467	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1267	20	0	1	0
chr17	7846696	7846696	C	G	exonic	KDM6B	.	nonsynonymous SNV	KDM6B:NM_001080424:exon8:c.C667G:p.L223V	.	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.994	D	0.826	P	0.011	N	0.796	D	0	N	1.27	T	-0.933	T	0.088	T	0.222	2.004	12.66	5.14	2.571	1.825	14.477	0.111	0.00440140864798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.154	0.32040	T	0.994	0.66517	D	0.826	0.59373	P	0.010673	0.29831	N	0.164918	0.795513	0.34443	D	0.55	0.14455	N	1.27	0.36146	T	-0.53	0.16393	N	0.372	0.42149	-0.9329	0.43710	T	0.088	0.33913	T	10	0.16152346	0.30295	T	0.004401	0.10749	T	0.111	0.31313	0.075	0.00517	0.202312658747	0.19855	0.20461270163651943	0.20378	0.116468510547	0.13138	0.506724238396	0.39765	T	0.050416	0.28589	T	-0.151698	0.28045	T	-0.45568	0.27070	T	0.398148417472839	0.28872	T	0.763424	0.38984	T	0.21033978	0.43327	0.16635798	0.38436	0.21033978	0.43327	0.16635798	0.38436	-5.056	0.37442	T	.	.	0.074	0.09530	B	.;.;.	.;.;.	2.287987	0.29260	18.07	0.96014300269725572	0.28454	0.95277	0.64098	D	AEFBI	0.203198	0.32973	N	0.320756620001231	0.57216	3.888031	0.391527923753059	0.61043	4.298923	0.999998668482264	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.14	5.14	0.70008	1.397000	0.34152	3.245000	0.36991	0.596000	0.33519	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	14.477	0.67136	298	0.88068	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2035.98	56	chr17	7846696	.	C	G	2035.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.498e+00;DP=1168;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.80;ReadPosRankSum=-1.265e+00;SOR=0.660	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1267	20	0	1	0
chr17	7846865	7846865	-	ACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACC:p.P264_L265insPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,67,0,0,0,0:67:99:2996,200,0,2997,202,2999,2997,202,2999,2999,2997,202,2999,2999,2999,2997,202,2999,2999,2999,2999	0	14	0	0
chr17	7846865	7846865	-	ACCACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACCACC:p.P264_L265insPPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,67,0,0,0,0:67:99:2996,200,0,2997,202,2999,2997,202,2999,2999,2997,202,2999,2999,2999,2997,202,2999,2999,2999,2999	0	14	0	0
chr17	7846865	7846865	-	ACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACC:p.P264_L265insP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,67,0,0,0,0:67:99:2996,200,0,2997,202,2999,2997,202,2999,2999,2997,202,2999,2999,2999,2997,202,2999,2999,2999,2999	0	14	0	0
chr17	7846865	7846865	-	ACCACCACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACCACCACC:p.P264_L265insPPPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,67,0,0,0,0:67:99:2996,200,0,2997,202,2999,2997,202,2999,2999,2997,202,2999,2999,2999,2997,202,2999,2999,2999,2999	0	14	0	0
chr17	7848213	7848213	C	T	exonic	KDM6B	.	nonsynonymous SNV	KDM6B:NM_001080424:exon11:c.C1925T:p.P642L	.	.	2	1485	35	0	0	35	0.0116473	.	.	727478	not_provided|KDM6B-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.011	B	0.006	B	0.014	N	0.781	N	0	N	3.06	T	-1.054	T	0.009	T	0.191	0.501	6.719	2.3	1.207	0.486	8.848	0.027	0.0122692025913	0.0014	0.00199681	0.0040	0.0007	0.0027	0	0.0015	0.0040	0.0072	0.0090	0.0034023	526	154602	rs201403136	0.0032	0.0032	0.0028	0.0035	0.0225	0.0031	0.0031	0.0193	0.0181	0.0011	0.0037	0.0042	2.52e-05	0.0012	0.0225	0.0028	0.0039	0.0094	0.0024	0.0024	0.0023	0.0025	0.0070	0.0022	0.0021	0.0052	0.0045	0.0006	0	0.0041	0.0017	0	0.0011	0.0136	0.0032	0.0047	0.0070	0.008	0.58626	D	0.052	0.47581	T	0.011	0.15914	B	0.006	0.12133	B	0.014159	0.28619	N	0.167892	0.78132	0.29329	N	0.695	0.17993	N	3.06	0.08634	T	0.2	0.04861	N	0.425	0.46462	-1.0545	0.13172	T	0.009	0.03054	T	10	0.006236732	0.00141	T	0.012269	0.30692	T	0.027	0.05988	.	.	0.0675242888579	0.06100	0.08653723565156672	0.08587	0.118197512317	0.13304	0.632191002369	0.57456	T	0.031785	0.22196	T	-0.587814	0.00173	T	-0.607735	0.12170	T	0.0184087385586059	0.00558	T	0.771423	0.40183	T	0.048999906	0.08630	0.045552824	0.06155	0.048999906	0.08629	0.045552824	0.06154	-4.027	0.24400	T	.	.	0.081	0.08368	B	.;.	.;.	3.442409	0.47899	22.5	0.87137345976141634	0.17014	0.31585	0.24374	N	AEFBI	0.041873	0.06423	N	-0.538434308523512	0.20849	1.102105	-0.402144809770401	0.24934	1.368259	0.120488630458847	0.16869	0.615465	0.37627	0	0.577304	0.33150	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.52	2.3	0.27735	1.460000	0.34855	3.492000	0.38721	0.549000	0.26987	0.895000	0.31310	0.999000	0.35428	0.999000	0.91618	0.1505:0.6005:0.249:0.0	8.848	0.34342	298	0.88068	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	677.98	28	chr17	7848213	.	C	T	677.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.000e-02;DP=599;ExcessHet=0.0000;FS=7.090;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.54;ReadPosRankSum=1.92;SOR=0.160	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,847	20	0	1	0
chr17	7849004	7849004	C	G	exonic	KDM6B	.	nonsynonymous SNV	KDM6B:NM_001080424:exon11:c.C2716G:p.P906A	.	.	2	1499	20	1	0	22	0.00728477	.	.	1687257	not_provided|KDM6B-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.143	B	0.075	B	0.357	N	0.959	N	0.345	N	-1.01	T	-0.797	T	0.242	T	0.18	1.367	10.50	4.0	1.198	1.284	9.716	0.193	0.265455406206	.	.	0.0007	0.0002	0.0009	0	0	0.0011	0.0016	0.0003	0.0005175	80	154602	rs201070294	0.0005	0.0005	0.0004	0.0005	0.0179	0.0004	0.0004	0.0150	0.0140	0.0002	0.0011	0.0005	0	0	0.0179	0.0004	0.0014	0.0004	0.0005	0.0005	0.0005	0.0005	0.0017	0.0004	0.0004	0.0012	0.0010	0.0001	0	0.0017	0.0006	0	0	0.0102	0.0005	0.0024	0.0002	0.0	0.91255	D	0.038	0.51737	D	0.143	0.27649	B	0.075	0.28327	B	0.357459	0.13721	N	0.663448	0.959147	0.26197	N	0.895	0.22405	L	-1.01	0.76168	T	-0.73	0.20576	N	0.32	0.36043	-0.7967	0.55338	T	0.242	0.61071	T	10	0.024675608	0.00687	T	0.265455	0.89674	D	0.193	0.47281	0.099	0.01433	0.174091166621	0.17034	0.16308770333930786	0.16228	0.395040691216	0.40653	0.702491521835	0.67505	T	0.05026	0.28543	T	-0.362194	0.04007	T	-0.338595	0.40504	T	0.0532980907852038	0.06071	T	0.769523	0.39899	T	0.13203031	0.30755	0.16211516	0.37673	0.13203031	0.30755	0.16211516	0.37672	-4.099	0.25379	T	.	.	0.055	0.01179	B	.;.	.;.	3.163897	0.42881	21.6	0.98241591194966893	0.39485	0.57096	0.30287	D	AEFDBI	0.108589	0.21597	N	-0.386024155286318	0.25967	1.413577	-0.239063908512661	0.30149	1.695122	0.90874980318859	0.26293	0.562547	0.31514	0	0.577304	0.33150	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	5.0	4.0	0.45673	1.689000	0.37319	5.757000	0.49661	0.596000	0.33519	0.246000	0.24809	1.000000	0.68203	0.850000	0.40195	0.1588:0.6877:0.1535:0.0	9.716	0.39440	298	0.88068	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	808.98	33	chr17	7849004	.	C	G	808.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.825e+00;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.41;ReadPosRankSum=1.22;SOR=0.643	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1408	20	0	1	0
chr17	7925713	7925713	G	A	exonic	KCNAB3	.	stopgain	KCNAB3:NM_004732:exon7:c.C508T:p.R170X,	.	.	387	1129	6	0	0	6	0.00265018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	4.840	27.5	3.57	1.388	0.034	13.716	.	.	.	.	0.0002	0	0.0002	0.0001	0	0.0002	0	0.0002	0.0001617	25	154602	rs61745617	0.0001	0.0001	0.0001	0.0002	0.0028	0.0001	0.0001	0.0017	0.0014	0.0001	0.0002	0.0006	0	1.872e-05	0.0028	0.0001	0.0003	0.0003	0.0001	0.0001	7.719e-05	0.0001	0.0003	6.525e-05	5.334e-05	8.894e-05	5.398e-05	0	0	0.0003	0.0014	0	0	0	8.825e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.000003	0.62929	D	0.056844	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.34	0.38129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.371528	0.88158	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.300832	0.97402	37	0.99699332229263382	0.80522	0.47742	0.28051	N	AEFDBI	0.254152	0.37353	N	0.453179566303899	0.64382	4.691647	0.269139706072698	0.53746	3.542074	0.0772722850272549	0.15754	0.615465	0.37627	0	0.633656	0.55848	0	0.667671	0.60360	0	0.567892	0.33627	0	.	.	5.83	3.57	0.40014	0.081000	0.14677	2.985000	0.35856	-0.153000	0.12021	0.702000	0.28645	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.5724:0.4276	13.716	0.62178	572	0.70300	NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2109.98	46	chr17	7925713	.	G	A	2109.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.933;DP=1045;ExcessHet=0.0000;FS=1.946;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=-9.700e-01;SOR=0.863	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	20	0	1	0
chr17	7937187	7937187	C	G	exonic	CNTROB	.	nonsynonymous SNV	CNTROB:NM_001037144:exon7:c.C852G:p.S284R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.999	D	0.996	D	0.001	D	0.942	D	0.895	L	0.88	T	-0.780	T	0.233	T	0.86	3.180	16.64	-0.024	0.128	0.628	8.790	0.277	0.0318542559781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.22224	T	0.252	0.23570	T	0.999	0.77913	D	0.996	0.84481	D	0.000727	0.42129	D	0.188084	0.942354	0.37368	D	0.205	0.09354	N	-0.14	0.65006	T	-0.75	0.21003	N	0.5	0.54496	-0.7803	0.56286	T	0.233	0.59977	T	10	0.18890473	0.34466	T	0.031854	0.53836	D	0.277	0.59375	0.269	0.21735	0.730438685338	0.72804	0.6659606303200777	0.66533	0.867839928353	0.69282	0.62681388855	0.56693	T	0.025	0.18611	T	0.195382	0.73461	D	0.0428765	0.73116	D	0.765474617481232	0.44170	D	0.70113	0.35642	T	0.062948346	0.13203	0.085058406	0.19613	0.062948346	0.13202	0.085058406	0.19612	-2.097	0.03809	T	.	.	0.420	0.60656	A	.;.;.;.	.;.;.;.	2.735446	0.35818	20.0	0.99558244010448482	0.71583	0.92051	0.54836	D	AEFDBI	0.230903	0.35421	N	-0.0386776570644641	0.40110	2.376451	-0.0578671974024748	0.37151	2.171454	0.110309543224778	0.16629	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	-0.0242	0.13266	0.412000	0.20852	0.404000	0.18035	-0.176000	0.10722	1.000000	0.71638	0.995000	0.32472	0.994000	0.71098	0.0:0.5569:0.0:0.4431	8.790	0.34005	707	0.57054	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1421.98	35	chr17	7937187	.	C	G	1421.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.92;DP=838;ExcessHet=0.0000;FS=4.064;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.01;ReadPosRankSum=-6.460e-01;SOR=1.085	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr17	8012552	8012552	C	T	exonic	GUCY2D	.	nonsynonymous SNV	GUCY2D:NM_000180:exon10:c.C2059T:p.H687Y,	Cone-rod dystrophy 6, Autosomal dominant;Leber congenital amaurosis 1, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	998038	Cone-rod_dystrophy_6|Night_blindness,_congenital_stationary,_type1i|Leber_congenital_amaurosis_1|Choroidal_dystrophy,_central_areolar,_1|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777,Orphanet:1872|MONDO:MONDO:0032811,MedGen:C5231408,OMIM:618555|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65|MONDO:MONDO:0024539,MedGen:C4551884,OMIM:215500,Orphanet:75377|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.004	B	0.007	B	0.000	D	0.694	N	-1.32	N	-1.6	D	-0.741	T	0.204	T	0.528	-0.918	0.401	5.34	2.776	2.072	11.961	0.303	0.0388486519081	.	.	0.0001	0	0.0002	0	0	0.0001	0.0011	0.0002	8.41e-05	13	154602	rs751340355	7.252e-05	7.251e-05	7.896e-05	6.601e-05	0.0004	6.115e-05	5.7e-05	0.0002	0.0002	0	0.0004	0	0	0	0	4.947e-05	0.0001	0.0003	4.599e-05	4.596e-05	6.422e-05	2.69e-05	0.0003	2.109e-05	1.527e-05	8.882e-05	5.39e-05	0	0	0.0003	0	0	0	0	4.41e-05	0	0	1.0	0.00964	T	0.816	0.03875	T	0.004	0.12183	B	0.007	0.12992	B	0.000086	0.51296	D	0.000000	0.693777	0.30167	N	-0.805	0.01590	N	-1.6	0.82165	D	2.76	0.00179	N	0.258	0.29197	-0.7414	0.58381	T	0.204	0.56197	T	10	0.11764017	0.22222	T	0.038849	0.58465	D	0.303	0.62400	.	.	0.839038645063	0.83750	0.6927715124008303	0.69217	0.263583704205	0.28913	0.487227499485	0.37055	T	0.199898	0.55731	T	-0.20453	0.20155	T	-0.231246	0.51652	T	0.0204728691415224	0.00747	T	0.767723	0.39623	T	0.0682483	0.14853	0.08903461	0.20796	0.0682483	0.14853	0.08903461	0.20795	-4.723	0.33681	T	0.03276371317297675	0.00129	0.093	0.14155	B	.	.	1.858956	0.23613	16.09	0.59071717002060675	0.06138	0.62622	0.31837	D	AEFDBI	0.212120	0.33784	N	-0.38534571705772	0.25991	1.415078	-0.131773353980741	0.34118	1.958952	0.952137603564047	0.27998	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	5.34	5.34	0.75982	2.123000	0.41620	3.372000	0.37939	0.596000	0.33519	0.823000	0.30032	1.000000	0.68203	0.366000	0.26021	0.0:0.9172:0.0:0.0828	11.961	0.52295	649	0.63102	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	690.98	35	chr17	8012552	.	C	T	690.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.633e+00;DP=808;ExcessHet=0.0000;FS=0.912;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.87;ReadPosRankSum=1.15;SOR=0.864	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1409	20	0	1	0
chr17	8047001	8047001	G	A	exonic	ALOX15B	.	nonsynonymous SNV	ALOX15B:NM_001039130:exon9:c.G1295A:p.R432Q	.	.	427	1054	40	1	0	42	0.0195349	.	.	578554	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.58	T	0.047	B	0.015	B	0.318	N	1.000	N	-0.095	N	-1.0	T	-1.023	T	0.093	T	0.056	0.846	8.421	-1.12	0.163	-0.382	4.854	0.125	.	0.0015	0.00459265	0.0037	0	0.0023	0.0002	0.0005	0.0025	0.0044	0.0153	0.0034346	531	154602	rs140623478	0.0023	0.0023	0.0019	0.0028	0.0151	0.0023	0.0023	0.0145	0.0142	5.974e-05	0.0015	0.0063	0.0004	0.0007	0.0149	0.0014	0.0033	0.0151	0.0017	0.0017	0.0014	0.0020	0.0157	0.0015	0.0014	0.0129	0.0118	0.0002	0	0.0012	0.0026	0.0002	0.0007	0.0102	0.0019	0.0033	0.0157	0.548	0.06627	T	0.799	0.06186	T	0.047	0.21998	B	0.015	0.17295	B	0.318346	0.14314	N	0.693986	1	0.08975	N	1.19	0.30124	L	-1.0	0.89822	T	-0.84	0.22944	N	0.047	0.12913	-1.0231	0.22704	T	0.093	0.35283	T	10	0.004040092	0.00079	T	.	.	.	0.125	0.34456	.	.	0.829266058896	0.82765	0.13121228922708775	0.13046	0.180147681555	0.20266	0.22074136138	0.01353	T	0.037255	0.49159	T	-0.50788	0.00516	T	-0.489987	0.23393	T	0.00877906586440529	0.00108	T	0.675632	0.49916	T	0.17987497	0.39080	0.11099009	0.26769	0.17987497	0.39079	0.11099009	0.26769	-3.913	0.29557	T	.	.	0.066	0.05579	B	.;.;.;.	.;.;.;.	0.863510	0.12360	8.898	0.93370035639790705	0.23114	0.02386	0.06774	N	AEFDBI	0.052326	0.09328	N	-1.02063380860431	0.08176	0.3824504	-0.973970329652777	0.10372	0.5219682	0.462231983486308	0.20634	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	4.69	-1.12	0.09306	-0.838000	0.04480	-3.749000	0.02563	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.647000	0.32611	0.5309:0.1675:0.3016:0.0	4.854	0.12910	373	0.84140	Lipoxygenase, C-terminal|Lipoxygenase, C-terminal;Lipoxygenase, C-terminal|Lipoxygenase, C-terminal;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1158.98	35	chr17	8047001	.	G	A	1158.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.680e-01;DP=829;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.58;ReadPosRankSum=1.35;SOR=0.744	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1251	20	0	1	0
chr17	8118294	8118294	C	A	exonic	ALOXE3	.	nonsynonymous SNV	ALOXE3:NM_001165960:exon2:c.G93T:p.Q31H,	Ichthyosis, congenital, autosomal recessive 3, Autosomal recessive	.	0	1506	16	0	0	16	0.00528402	.	.	347771	not_provided|not_specified|Autosomal_recessive_congenital_ichthyosis_3	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011680,MedGen:C3539888,OMIM:606545	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.0	B	0.001	B	0.633	N	1.000	N	0	N	-0.87	T	-0.949	T	0.127	T	0.102	0.048	4.262	1.9	0.587	0.694	5.149	0.153	0.0207653597211	.	0.00279553	0.0068	0.0006	0	0	0.0030	0.0076	0.0043	0.0090	0.002238	346	154602	rs79377087	0.0088	0.0085	0.0089	0.0087	0.0101	0.0087	0.0086	0.0099	0.0098	0.0012	0.0021	0.0002	0	0.0057	0.0049	0.0101	0.0075	0.0080	0.0056	0.0056	0.0059	0.0053	0.0096	0.0053	0.0052	0.0090	0.0087	0.0016	0	0.0020	0.0006	0	0.0051	0	0.0096	0.0043	0.0089	0.025	0.47320	D	0.0	0.92824	D	.	.	.	.	.	.	0.633267	0.10667	N	0.765889	1	0.19072	N	.	.	.	-0.9	0.74896	T	-0.14	0.09796	N	0.139	0.18239	-0.9491	0.41126	T	0.127	0.43298	T	10	0.004037291	0.00078	T	0.020765	0.43429	T	0.153	0.40148	0.103	0.01643	0.259272394797	0.25527	0.14794485350690273	0.14716	0.24617174184	0.27154	0.219298377633	0.01270	T	.	.	.	-0.493104	0.00625	T	-0.468762	0.25651	T	0.00469923930955501	0.00050	T	0.410759	0.10626	T	.	.	.	.	.	.	.	.	-4.087	0.25098	T	.	.	0.171	0.37633	B	.;.	.;.	0.832682	0.12043	8.597	0.9311850682671261	0.22753	0.03678	0.08945	N	ALL	0.056338	0.10408	N	-0.942965969529273	0.09851	0.4680903	-0.949372981854357	0.10937	0.5541349	0.9999999944203	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.606814	0.37721	0	0.603991	0.37454	0	.	.	3.94	1.9	0.24770	0.384000	0.20396	0.397000	0.17956	0.599000	0.40250	0.000000	0.06391	0.012000	0.20211	0.010000	0.09038	0.0:0.672:0.2136:0.1144	5.149	0.14331	340	0.86005	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1786.98	34	chr17	8118294	.	C	A	1786.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.630e-01;DP=857;ExcessHet=0.0000;FS=0.680;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.77;ReadPosRankSum=-1.699e+00;SOR=0.614	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1505	20	0	1	0
chr17	8143450	8143450	G	A	exonic	PER1	.	nonsynonymous SNV	PER1:NM_002616:exon19:c.C2888T:p.P963L,	.	.	390	1125	7	0	0	7	0.00310146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.001	B	0.0	B	0.001	N	0.678	N	0.345	N	2.53	T	-1.057	T	0.021	T	0.284	0.435	6.365	4.36	1.243	1.384	12.259	0.073	0.0121004612137	.	0.000199681	0.0015	0.0001	0.0012	0	0	0.0023	0.0023	0.0006	0.0012225	189	154602	rs143964144	0.0010	0.0010	0.0010	0.0011	0.0059	0.0010	0.0010	0.0044	0.0038	0.0003	0.0008	0.0238	0	0	0.0059	0.0006	0.0023	0.0005	0.0010	0.0010	0.0010	0.0009	0.0009	0.0008	0.0008	0.0006	0.0004	0.0002	0	0.0009	0.0219	0	0	0.0034	0.0006	0.0009	0.0006	0.169	0.22920	T	0.187	0.28764	T	0.001	0.07471	B	0.0	0.01387	B	0.000611	0.42945	N	0.200037	0.999994	0.08975	N	0.925	0.23481	L	2.53	0.17271	T	-1.36	0.33798	N	0.194	0.21319	-1.0569	0.12543	T	0.021	0.08686	T	10	0.013211042	0.00281	T	0.012	0.30367	T	0.073	0.21317	.	.	0.082315109003	0.07666	.	.	0.135698038814	0.15305	0.482213944197	0.36362	T	0.110469	0.42519	T	-0.511822	0.00490	T	-0.571353	0.15326	T	0.0100868625259983	0.00135	T	0.722228	0.33571	T	0.034012582	0.03734	0.032789167	0.02069	0.034012582	0.03734	0.032789167	0.02068	-5.089	0.37791	T	.	.	0.076	0.06159	B	.;.	.;.	1.795793	0.22827	15.78	0.89450409575091461	0.18807	0.68591	0.33860	D	AEFBHCI	0.109900	0.21812	N	-0.535847408548322	0.20929	1.107003	-0.381343605132643	0.25553	1.405985	0.996664880060927	0.34909	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	5.35	4.36	0.51643	2.068000	0.41097	3.796000	0.39849	0.618000	0.50648	0.944000	0.32806	1.000000	0.68203	0.001000	0.02609	0.0846:0.0:0.9154:0.0	12.259	0.53957	303	0.87825	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2693.98	37	chr17	8143450	.	G	A	2693.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.271;DP=895;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.43;ReadPosRankSum=2.58;SOR=0.702	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1218	20	0	1	0
chr17	8144961	8144961	C	G	exonic	PER1	.	nonsynonymous SNV	PER1:NM_002616:exon18:c.G2251C:p.A751P,	.	.	.	.	.	.	.	.	.	.	.	2358925	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.41	T	0.002	B	0.001	B	0.026	N	0.809	D	0.14	N	2.52	T	-1.060	T	0.038	T	0.275	1.629	11.40	2.71	1.274	0.640	5.179	0.038	0.00544868209844	.	.	3.981e-05	0	9.124e-05	0	0	5.131e-05	0	0	3.23e-05	5	154602	rs778368752	2.585e-05	2.668e-05	2.028e-05	3.165e-05	0.0008	1.877e-05	1.661e-05	0.0002	0.0001	0	6.898e-05	0	0	0	0.0008	2.547e-05	1.794e-05	2.891e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.227	0.19293	T	0.239	0.33109	T	0.002	0.09854	B	0.001	0.04355	B	0.026195	0.25961	N	0.400197	0.809244	0.34618	D	0.43	0.12624	N	2.52	0.38073	T	-0.71	0.20145	N	0.176	0.18920	-1.0597	0.11830	T	0.038	0.16333	T	10	0.06619358	0.09042	T	0.005449	0.14015	T	0.038	0.09825	.	.	0.043077524339	0.03247	.	.	0.174452631906	0.19643	0.48183965683	0.36310	T	0.071454	0.34211	T	-0.207229	0.19771	T	-0.535446	0.18746	T	0.0540080927312374	0.06191	T	0.732927	0.34859	T	0.14229576	0.32752	0.10368049	0.24883	0.14229576	0.32752	0.10368049	0.24883	-4.868	0.35373	T	.	.	0.055	0.00563	B	.;.;.;.	.;.;.;.	1.612545	0.20604	14.83	0.98856051221510743	0.47390	0.51169	0.28833	D	AEFBCI	0.266431	0.38335	N	-0.495933822229983	0.22214	1.18453	-0.327117211265654	0.27226	1.509278	0.951453027715528	0.27958	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	4.85	2.71	0.31092	-0.078000	0.11338	1.197000	0.24809	0.599000	0.40250	0.001000	0.13787	0.830000	0.27205	0.994000	0.71098	0.0:0.6505:0.2316:0.1179	5.179	0.14477	303	0.87825	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1770.98	102	chr17	8144961	.	C	G	1770.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.930e-01;DP=2016;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.42;ReadPosRankSum=0.811;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:101,0:101:99:.:.:0,120,1800	20	0	1	0
chr17	8149597	8149597	C	T	exonic	PER1	.	nonsynonymous SNV	PER1:NM_002616:exon6:c.G718A:p.V240I,	.	.	410	1102	10	0	0	10	0.00451671	.	.	727565	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.45	T	0.029	B	0.013	B	0.254	N	1.000	N	0.345	N	2.67	T	-1.024	T	0.026	T	0.043	-0.061	3.702	-8.48	-1.150	-0.273	11.762	0.019	.	0.0049	0.00259585	0.0043	0.0011	0.0027	0	0.0003	0.0067	0.0045	0.0020	0.0044954	695	154602	rs74795714	0.0057	0.0057	0.0056	0.0057	0.0066	0.0056	0.0055	0.0065	0.0064	0.0008	0.0040	0.0065	0	0.0008	0.0031	0.0066	0.0044	0.0027	0.0042	0.0042	0.0045	0.0039	0.0072	0.0039	0.0038	0.0066	0.0064	0.0007	0	0.0046	0.0032	0	0.0013	0.0102	0.0072	0.0076	0.0019	0.443	0.10412	T	0.241	0.24334	T	0.029	0.19866	B	0.013	0.16460	B	0.253721	0.15456	N	0.670897	1	0.08975	N	0.69	0.16971	N	2.67	0.35960	T	-0.13	0.09460	N	0.114	0.10198	-1.0242	0.22344	T	0.026	0.11131	T	10	0.007104814	0.00162	T	.	.	.	0.019	0.03383	.	.	0.147330786459	0.14319	.	.	0.106249982341	0.12016	0.28054112196	0.07567	T	0.109207	0.42288	T	-0.669413	0.00055	T	-0.730197	0.04318	T	0.00271622591116476	0.00028	T	0.559344	0.28234	T	0.020158	0.00565	0.028824672	0.01156	0.020158	0.00564	0.028824672	0.01156	-6.165	0.47639	T	.	.	0.066	0.05623	B	.;.;.	.;.;.	-0.148903	0.03360	0.597	0.8573706713813477	0.16080	0.09460	0.15211	N	AEFBCI	0.089305	0.18101	N	-1.66099788880046	0.00989	0.0428954	-1.72274035109285	0.01040	0.04668455	0.999934501669828	0.46732	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.55	-8.48	0.00815	-0.237000	0.09007	-3.577000	0.02683	-1.577000	0.00925	0.000000	0.06391	0.000000	0.08366	0.147000	0.20199	0.0:0.676:0.1582:0.1658	11.762	0.51177	306	0.87689	PAS domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1393.98	43	chr17	8149597	.	C	T	1393.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.70;DP=918;ExcessHet=0.0000;FS=0.725;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=-5.320e-01;SOR=0.566	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1379	20	0	1	0
chr17	8189288	8189288	C	T	exonic	BORCS6	.	nonsynonymous SNV	BORCS6:NM_017622:exon1:c.G853A:p.A285T,	.	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.98	D	0.816	P	0.000	D	0.861	D	-1.1	N	.	.	-0.901	T	0.081	T	0.167	3.728	18.93	5.37	2.521	1.297	14.604	0.120	0.00395482378342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.895e-06	8.893e-06	1.226e-05	5.501e-06	1.079e-05	4.96e-06	3.83e-06	5.75e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	1.656e-05	0	6.569e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.292	0.14894	T	0.408	0.14633	T	0.98	0.59353	D	0.816	0.58888	P	0.000026	0.55875	D	0.119371	0.860972	0.35387	D	.	.	.	.	.	.	-0.23	0.10656	N	0.117	0.10626	-0.9014	0.47846	T	0.081	0.32090	T	9	0.21507207	0.38049	T	0.003955	0.09337	T	0.120	0.33359	0.393	0.41770	0.0551355673512	0.04727	0.5874426398544258	0.58674	.	.	.	.	.	0.007564	0.06959	T	-0.152433	0.27932	T	-0.456736	0.26954	T	0.907621800899506	0.56197	D	0.663934	0.27277	T	0.10489381	0.24799	0.14471124	0.34347	0.10489381	0.24799	0.14471124	0.34346	-3.898	0.22273	T	.	.	0.273	0.50718	B	.	.	4.149396	0.62235	24.4	0.99878187641459504	0.95491	0.59196	0.30848	D	AEFDGBCI	0.146245	0.26965	N	0.093870817666825	0.46177	2.862137	0.21879970628475	0.50891	3.276509	0.999999999837968	0.74766	0.65757	0.49021	0	0.52208	0.09955	0	0.619478	0.44681	0	0.665054	0.64577	0	.	.	5.37	5.37	0.76949	1.546000	0.35787	7.571000	0.60712	0.599000	0.40250	0.945000	0.32849	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	14.604	0.68057	326	0.86709	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	842.98	78	chr17	8189288	.	C	T	842.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.261;DP=781;ExcessHet=0.0000;FS=3.039;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=0.418;SOR=1.085	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1378	20	0	1	0
chr17	8340278	8340278	T	C	exonic	ODF4	.	nonsynonymous SNV	ODF4:NM_153007:exon1:c.T227C:p.F76S,	.	.	416	1105	0	1	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.0	B	0.0	B	0.364	N	1.000	N	-0.425	N	2.07	T	-0.953	T	0.018	T	0.101	0.916	8.730	0.381	0.248	0.089	6.254	0.020	0.00150313906657	.	.	8.385e-06	0	0	0	0	1.522e-05	0	0	6.5e-06	1	154602	rs766346066	4.789e-06	4.788e-06	4.084e-06	5.501e-06	5.396e-06	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	1.656e-05	0	1.971e-05	1.97e-05	1.285e-05	2.69e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.794	0.03167	T	0.658	0.06554	T	0.0	0.02946	B	0.0	0.01387	B	0.363907	0.13628	N	0.647824	1	0.08975	N	-0.94	0.01278	N	2.07	0.20387	T	2.68	0.00194	N	0.061	0.03283	-0.9528	0.40485	T	0.018	0.07234	T	10	0.02864191	0.00995	T	0.001503	0.02318	T	0.020	0.03691	0.302	0.27003	0.0401082797425	0.02173	0.023553536672939558	0.02307	0.308903704434	0.33204	0.308041810989	0.11611	T	9.9E-4	0.00532	T	-0.342497	0.05217	T	-0.72975	0.04339	T	0.0466864900164755	0.04907	T	0.258174	0.04088	T	0.04618767	0.07687	0.05065323	0.07992	0.04618767	0.07687	0.05065323	0.07992	-2.76	0.07821	T	.	.	0.144	0.31832	B	.	.	0.625341	0.09937	6.695	0.86170613007415486	0.16359	0.00214	0.01215	N	AEFDBI	0.021902	0.01031	N	-1.33820806032405	0.03249	0.1447956	-1.29903709797049	0.04444	0.2096357	1.17852596890278E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.89	0.381	0.15451	0.099000	0.15047	-0.023000	0.12899	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.0:0.5265:0.0:0.4735	6.254	0.20073	288	0.88579	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1545.98	33	chr17	8340278	.	T	C	1545.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.310;DP=1668;ExcessHet=0.0000;FS=1.429;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.47;ReadPosRankSum=0.065;SOR=0.846	GT:AD:DP:GQ:PL	0/0:95,0:95:99:0,120,1800	20	0	1	0
chr17	8493777	8493779	CCT	-	exonic	MYH10	.	nonframeshift deletion	MYH10:NM_005964:exon30:c.4070_4072del:p.E1357del	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020	0.0006	0.0009	0.0010	0.0003	0.0015	0.0023	0.0071	0.0003842	10	26028	rs146612839	0.0001	0.0043	0.0001	8.887e-05	0.0004	8.995e-05	8.474e-05	0.0002	0.0002	0.0004	0.0003	0.0003	0.0002	0.0002	0	6.699e-05	6.698e-05	0.0003	0	6.572e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	50.94	39	chr17	8493776	.	GCCT	G	50.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.251e+00;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.45;ReadPosRankSum=2.67;SOR=0.848	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1228	20	0	1	0
chr17	8735100	8735100	T	C	exonic	CCDC42	.	nonsynonymous SNV	CCDC42:NM_001158261:exon5:c.A647G:p.D216G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.958	D	0.444	B	0.000	D	0.999	D	1.445	L	1.78	T	-1.062	T	0.068	T	0.692	4.346	22.9	5.18	2.181	2.650	14.139	0.120	0.00748111115648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.093	0.50809	T	0.958	0.54977	D	0.444	0.45865	B	0.000347	0.45440	D	0.096580	0.999238	0.46406	D	1.67	0.42885	L	1.78	0.25841	T	-4.67	0.79571	D	0.565	0.59393	-1.0620	0.11263	T	0.068	0.27879	T	10	0.35379457	0.52177	T	0.007481	0.19846	T	0.120	0.33359	0.262	0.20631	0.351614576976	0.34778	0.9924611435803031	0.99242	1.1951023035	0.80372	0.560153067112	0.47289	T	0.085351	0.37482	T	-0.00739022	0.50629	T	-0.248392	0.49976	T	0.993819773197174	0.84776	D	0.820918	0.57861	T	0.5132054	0.67866	0.45063546	0.68031	0.5132054	0.67867	0.45063546	0.68032	-4.569	0.31779	T	.	.	0.144	0.40746	B	.;.	.;.	5.006726	0.83108	28.0	0.99830028087208578	0.91198	0.87641	0.47248	D	AEFGBI	0.426441	0.49079	N	0.365888141884114	0.59584	4.13894	0.408757964981186	0.62108	4.421002	0.500152469570985	0.20935	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.18	5.18	0.71140	2.774000	0.47379	7.858000	0.71298	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.0:0.0:1.0	14.139	0.64836	798	0.45050	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2240.98	34	chr17	8735100	.	T	C	2240.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.340e-01;DP=861;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.01;ReadPosRankSum=0.808;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1239	20	0	1	0
chr17	8741656	8741656	G	A	exonic	CCDC42	.	nonsynonymous SNV	CCDC42:NM_001158261:exon4:c.C310T:p.R104W	.	.	423	1091	7	1	0	9	0.00410771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	0.885	N	2.305	M	1.98	T	-0.953	T	0.119	T	0.863	3.483	17.82	2.94	1.170	1.714	8.812	0.229	.	0.0007	0.00299521	0.0019	0.0005	0.0011	0	0.0007	0.0014	0.0035	0.0061	0.0016106	249	154602	rs146567497	0.0015	0.0015	0.0013	0.0017	0.0076	0.0015	0.0014	0.0057	0.0050	0.0002	0.0008	3.826e-05	0.0004	0.0001	0.0076	0.0014	0.0018	0.0053	0.0011	0.0011	0.0010	0.0011	0.0048	0.0009	0.0009	0.0033	0.0028	0.0003	0	0.0015	0	0.0004	0.0006	0.0034	0.0013	0.0009	0.0048	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000047	0.53742	D	0.000000	0.885097	0.35831	D	2.74	0.80084	M	1.98	0.21865	T	-6.75	0.94702	D	0.742	0.77601	-0.9527	0.40503	T	0.119	0.41669	T	10	0.019927323	0.00451	T	.	.	.	0.229	0.52916	.	.	0.388334884743	0.38444	0.7451929518854102	0.74465	0.955501152494	0.72796	0.664970397949	0.62120	T	0.184985	0.53782	T	-0.112991	0.34275	T	0.0665618	0.74681	D	0.0784824301286375	0.09792	T	0.862614	0.55818	D	0.95875853	0.97155	0.95788467	0.98856	0.95875853	0.97155	0.95788467	0.98857	-8.582	0.64970	D	.	.	0.139	0.32493	B	.;.	.;.	4.850917	0.79284	27.1	0.99896187294927907	0.96895	0.82067	0.41353	D	AEFDBI	0.237619	0.35988	N	0.475146617279002	0.65644	4.848335	0.39844940776916	0.61470	4.34742	3.20119509031347E-5	0.03775	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.16	2.94	0.33188	1.039000	0.29876	4.076000	0.41702	0.618000	0.50648	0.820000	0.29989	1.000000	0.68203	0.961000	0.51904	0.0867:0.0:0.6901:0.2232	8.812	0.34128	793	0.45818	Domain of unknown function DUF4200;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1263.98	38	chr17	8741656	.	G	A	1263.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.939;DP=820;ExcessHet=0.0000;FS=0.743;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=1.32;SOR=0.822	GT:AD:DP:GQ:PL	0/1:53,52:105:99:1278,0,1242	20	0	1	0
chr17	8758366	8758366	G	A	exonic	SPDYE4	.	nonsynonymous SNV	SPDYE4:NM_001128076:exon1:c.C17T:p.A6V,	.	.	425	1080	16	1	0	18	0.00826446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.0	B	0.0	B	0.018	N	1.000	N	0	N	.	.	-1.061	T	0.033	T	0.027	0.317	5.719	0.228	-0.050	0.301	4.59	0.014	.	0.0070	0.00319489	0.0052	0.0070	0.0101	0	0.0055	0.0070	0	0.0032	0.0020634	319	154602	rs34694079	0.0081	0.0078	0.0082	0.0080	0.0097	0.0080	0.0080	0.0092	0.0092	0.0035	0.0029	0.0027	5.598e-05	0.0057	0.0097	0.0094	0.0075	0.0027	0.0062	0.0062	0.0064	0.0059	0.0094	0.0058	0.0057	0.0088	0.0086	0.0040	0.0110	0.0031	0.0026	0	0.0039	0.0102	0.0094	0.0071	0.0010	0.172	0.22660	T	0.694	0.05844	T	0.0	0.02946	B	0.0	0.01387	B	0.018084	0.01480	N	3.257980	1	0.08975	N	0	0.06538	N	.	.	.	-0.54	0.16598	N	0.075	0.04913	-1.0613	0.11434	T	0.033	0.14117	T	9	0.0039616227	0.00076	T	.	.	.	0.014	0.01968	.	.	0.0297737177859	0.01360	0.06361789642876589	0.06300	0.200286886509	0.22433	0.387546867132	0.23323	T	0.001776	0.01195	T	-0.697053	0.00038	T	-0.763657	0.02983	T	0.000697649832233645	0.00006	T	0.458554	0.13215	T	0.02554231	0.01503	0.04355462	0.05446	0.02554231	0.01503	0.04355462	0.05445	-4.193	0.26650	T	.	.	0.084	0.09772	B	.	.	-0.119769	0.03524	0.670	0.67067587201391132	0.08244	0.00538	0.02482	N	AEFDBI	0.028939	0.02640	N	-1.39315711839182	0.02701	0.1196695	-1.42553532080348	0.02999	0.1390573	8.21368020201314E-5	0.04703	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.38	0.228	0.14635	0.331000	0.19477	-2.552000	0.03617	-0.202000	0.08738	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.3527:0.0:0.6473:0.0	4.59	0.11696	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	991.98	38	chr17	8758366	.	G	A	991.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.840e-01;DP=821;ExcessHet=0.0000;FS=0.949;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.59;ReadPosRankSum=0.366;SOR=0.502	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1575	20	0	1	0
chr17	8797460	8797460	G	A	exonic	MFSD6L	.	nonsynonymous SNV	MFSD6L:NM_152599:exon1:c.C1661T:p.S554L,	.	.	423	1078	19	2	0	23	0.0105553	.	.	1222401	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.99	D	0.000	D	0.000	P	2.045	M	-3.67	D	-0.400	T	0.210	T	0.598	3.468	17.76	5.03	2.614	8.692	17.306	0.776	.	0.0027	0.0353435	0.0166	0.0013	0.0014	0.0853	0.0003	0.0030	0.0167	0.0643	0.0151874	2348	154602	rs74899363	0.0093	0.0093	0.0076	0.0110	0.0960	0.0092	0.0091	0.0935	0.0925	0.0008	0.0013	0.0119	0.0960	0.0001	0.0055	0.0028	0.0120	0.0642	0.0074	0.0074	0.0062	0.0086	0.0910	0.0070	0.0069	0.0842	0.0816	0.0010	0	0.0024	0.0133	0.0910	0	0.0034	0.0027	0.0057	0.0684	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.99	0.78936	D	0.000005	0.62929	D	0.000000	8.77062e-07	0.58761	P	2.865	0.83145	M	-3.67	0.95247	D	-3.46	0.67705	D	0.206	0.22870	-0.4002	0.72020	T	0.210	0.56973	T	9	0.008387089	0.00190	T	.	.	.	0.776	0.92501	.	.	.	.	0.33468370261142605	0.33381	0.433029098723	0.43471	0.449397563934	0.31862	T	0.193194	0.54858	T	-0.114371	0.34047	T	0.14979	0.80171	D	0.0235531200911232	0.01090	T	0.69643	0.30590	T	0.6479231	0.75253	0.55815005	0.74439	0.6479231	0.75254	0.55815005	0.74440	-8.647	0.65398	D	.	.	0.176	0.38516	B	.	.	4.447680	0.69110	25.3	0.99906706232731657	0.97726	0.96231	0.68139	D	AEFDBCI	0.896745	0.83813	D	0.680308490086659	0.78343	6.852232	0.612556857862348	0.75850	6.384225	0.999994391301051	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.49644	0.08281	0	0.542086	0.14980	0	.	.	5.03	5.03	0.67015	8.876000	0.92010	6.301000	0.55413	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.615000	0.31768	0.0:0.0:1.0:0.0	17.306	0.87082	803	0.44167	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	7131.68	34	chr17	8797460	.	G	A	7131.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.978;DP=1155;ExcessHet=0.3300;FS=1.731;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=-4.510e-01;SOR=0.644	GT:AD:DP:GQ:PL	0/1:80,86:166:99:2145,0,1930	18	0	3	0
chr17	9022757	9022757	C	G	exonic	NTN1	.	nonsynonymous SNV	NTN1:NM_004822:exon2:c.C384G:p.F128L,	.	.	424	1097	1	0	0	1	0.000455581	.	.	2757460	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.59	T	0.0	B	0.004	B	0.000	D	1.000	D	0.345	N	-0.97	T	-0.830	T	0.211	T	0.305	1.685	11.59	4.81	2.218	1.976	17.469	0.167	0.0458100868723	.	0.000399361	0.0002	0	0	0	0	0	0	0.0013	0.0001164	18	154602	rs571334142	9.125e-05	9.098e-05	5.323e-05	0.0001	0.0015	7.846e-05	7.327e-05	0.0013	0.0012	0	0	0	0	0	0.0002	2.701e-06	1.66e-05	0.0015	1.97e-05	1.969e-05	0	4.031e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.018e-05	0	0	0	0	0	0	0	0	0	0.0006	0.645	0.04928	T	0.634	0.07105	T	0.0	0.02946	B	0.004	0.10090	B	0.000002	0.62929	D	0.059557	0.999979	0.53665	D	-0.205	0.04094	N	-0.97	0.75670	T	-1.09	0.28290	N	0.327	0.36779	-0.8299	0.53308	T	0.211	0.57147	T	10	0.029969305	0.01123	T	0.04581	0.62157	D	0.167	0.42761	0.693	0.83032	0.775718912632	0.77366	0.6918174826752812	0.69121	.	.	0.797733008862	0.81618	T	0.43677	0.78304	T	-0.35417	0.04470	T	-0.316895	0.42913	T	0.0554417762743812	0.06431	T	0.740526	0.35940	T	0.4641763	0.64931	0.3322638	0.59076	0.4641763	0.64931	0.3322638	0.59076	-7.801	0.59706	D	.	.	0.675	0.71921	P	.	.	2.777471	0.36477	20.3	0.9393932255473495	0.23993	0.94408	0.61070	D	AEFDGBCI	0.468830	0.51546	N	-0.293210988030162	0.29409	1.630652	-0.0783452303999893	0.36287	2.109839	0.999999999999955	0.74766	0.652421	0.48094	0	0.609123	0.50646	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	4.81	4.81	0.61401	2.084000	0.41249	0.105000	0.14702	0.572000	0.28966	1.000000	0.71638	0.199000	0.23556	0.996000	0.76049	0.0:1.0:0.0:0.0	17.469	0.87534	938	0.14419	Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3240.98	37	chr17	9022757	.	C	G	3240.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.170e-01;DP=931;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.60;ReadPosRankSum=1.69;SOR=0.719	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1068	20	0	1	0
chr17	9182936	9182936	A	C	exonic	NTN1	.	nonsynonymous SNV	NTN1:NM_004822:exon5:c.A1378C:p.T460P,	.	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.001	B	0.003	B	0.000	D	1.000	D	1.175	L	2.81	T	-1.091	T	0.075	T	0.408	1.051	9.291	5.83	2.227	4.332	13.246	0.102	0.0207379173832	.	0.000798722	0.0004	9.612e-05	0.0002	0	0	0.0001	0	0.0022	0.0003687	57	154602	rs541757843	0.0002	0.0002	0.0001	0.0003	0.0020	0.0002	0.0002	0.0017	0.0017	0.0002	0.0001	0	0.0001	3.745e-05	0.0014	8.094e-05	0.0002	0.0020	0.0001	0.0001	0.0001	0.0002	0.0031	9.753e-05	8.266e-05	0.0019	0.0016	7.232e-05	0	6.544e-05	0	0	0	0	2.942e-05	0.0005	0.0031	0.229	0.41637	T	0.154	0.32040	T	0.001	0.07471	B	0.003	0.08700	B	0.000004	0.62929	D	0.103387	0.999823	0.49512	D	1.15	0.29295	L	1.31	0.35405	T	-0.77	0.40660	N	0.354	0.39558	-1.0915	0.05286	T	0.075	0.30117	T	10	0.0116015375	0.00253	T	0.020738	0.43393	T	0.102	0.29158	.	.	0.365317461125	0.36143	0.2862276875846936	0.28535	.	.	0.602860093117	0.53308	T	0.221387	0.58495	T	-0.427735	0.01530	T	-0.393664	0.34122	T	0.0189972519224841	0.00608	T	0.69713	0.30670	T	0.2310756	0.45873	0.15219982	0.35819	0.263958	0.49461	0.236558	0.48930	-6.712	0.51901	T	0.17924317183689714	0.23013	0.074	0.14568	B	.;.	.;.	2.350749	0.30139	18.34	0.89162335636740009	0.18563	0.96569	0.69797	D	AEFBI	0.663945	0.63329	D	-0.197382824331063	0.33243	1.88379	-0.0530265507784232	0.37360	2.186413	0.00228488324631602	0.09294	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.83	5.83	0.93059	4.323000	0.59010	7.836000	0.70319	0.745000	0.86679	0.999000	0.42656	1.000000	0.68203	0.015000	0.10482	0.8681:0.1319:0.0:0.0	13.246	0.59453	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1133.98	82	chr17	9182936	.	A	C	1133.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.416;DP=1432;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.70;ReadPosRankSum=-2.450e+00;SOR=0.709	GT:AD:DP:GQ:PL	0/1:57,49:106:99:1148,0,1387	20	0	1	0
chr17	9594294	9594294	G	A	exonic	CFAP52	.	nonsynonymous SNV	CFAP52:NM_001080556:exon3:c.G305A:p.R102Q	.	.	.	.	.	.	.	.	.	.	.	958433	Situs_inversus|not_specified	Human_Phenotype_Ontology:HP:0001696,MONDO:MONDO:0010029,MedGen:C4551493,Orphanet:101063|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.26	T	0.049	B	0.007	B	0.011	N	1.000	N	1.735	L	5.05	T	-0.497	T	0.533	D	0.067	0.839	8.388	2.16	0.291	1.191	9.748	0.031	0.0453781784925	0.0002	0.000199681	3.296e-05	0	8.637e-05	0	0	0	0	0.0002	3.23e-05	5	154602	rs34653219	3.489e-05	3.489e-05	3.403e-05	3.576e-05	0.0002	2.697e-05	2.438e-05	6.247e-05	4.758e-05	2.988e-05	0.0001	0	2.52e-05	0	0.0002	1.889e-05	0.0002	0.0001	3.286e-05	3.281e-05	1.286e-05	5.375e-05	0.0002	1.261e-05	7.98e-06	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	2.941e-05	0	0.0002	0.14	0.25664	T	0.197	0.27855	T	0.005	0.12996	B	0.004	0.10090	B	0.010745	0.29799	N	0.374904	0.999952	0.19072	N	.	.	.	-2.59	0.89822	D	-0.02	0.07444	N	0.228	0.27792	-0.4970	0.68758	T	0.533	0.82685	D	10	0.032058597	0.01351	T	0.045378	0.61950	D	0.031	0.07369	.	.	0.0846915920261	0.08053	0.1830619140476477	0.18225	0.116543839344	0.13151	0.228451222181	0.01855	T	0.025137	0.18856	T	-0.297296	0.08918	T	-0.405143	0.32787	T	0.0509484518818716	0.05666	T	0.768023	0.39669	T	0.0355034	0.04190	0.043040432	0.05265	0.0355034	0.04190	0.043040432	0.05265	-4.089	0.25128	T	.	.	0.081	0.10931	B	.;.	.;.	0.778211	0.11484	8.085	0.93661444398831395	0.23551	0.14495	0.18433	N	AEFBI	0.085208	0.17271	N	-0.91646996735044	0.10457	0.4997831	-0.93821216143472	0.11197	0.5689813	6.44021391586059E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.3	2.16	0.26663	1.331000	0.33398	-0.287000	0.10223	-0.188000	0.09543	0.166000	0.23880	0.000000	0.08366	0.054000	0.15518	0.2409:0.0:0.7591:0.0	9.748	0.39624	861	0.33516	.;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1426.98	37	chr17	9594294	.	G	A	1426.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.110;DP=858;ExcessHet=0.0000;FS=2.378;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.52;ReadPosRankSum=0.346;SOR=0.504	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1328	20	0	1	0
chr17	9608191	9608191	T	C	exonic	CFAP52	.	nonsynonymous SNV	CFAP52:NM_001080556:exon6:c.T622C:p.C208R	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.896	P	0.474	P	0.000	D	1.000	D	2.015	M	5.06	T	0.430	D	0.667	D	0.938	3.784	19.21	5.42	2.184	5.545	14.734	0.427	0.27158512124	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs779089512	6.852e-07	6.84e-07	0	1.377e-06	9.004e-07	0	0	.	.	0	0	0	0	0	0	9.004e-07	0	0	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.089	0.32141	T	0.062	0.45318	T	0.895	0.49247	P	0.474	0.46883	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-2.58	0.89757	D	-3.7	0.71276	D	0.9	0.90025	0.430	0.89541	D	0.667	0.88460	D	10	0.95042	0.94377	D	0.271585	0.89899	D	0.427	0.73445	0.788	0.91068	0.728798078922	0.72639	0.8626854486684278	0.86232	0.349758134559	0.36824	0.72649949789	0.70995	T	0.226127	0.59106	T	0.391603	0.89423	D	0.324734	0.89290	D	0.986552178859711	0.77243	D	0.692831	0.30243	T	0.7803619	0.82676	0.73778266	0.84502	0.7803619	0.82677	0.73778266	0.84503	-11.076	0.80073	D	.	.	0.795	0.81070	P	.;.	.;.	3.991804	0.58755	24.0	0.9947476764866775	0.66525	0.92524	0.55913	D	AEFI	0.735291	0.68115	D	0.46251674620387	0.64917	4.757327	0.511963535612072	0.68792	5.269485	0.818497642452698	0.24481	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	5.682000	0.67845	7.743000	0.68032	0.659000	0.54702	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	14.734	0.69020	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1609.98	35	chr17	9608191	.	T	C	1609.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.597e+00;DP=855;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=4.000e-03;SOR=0.642	GT:AD:DP:GQ:PL	0/1:76,76:152:99:1624,0,1794	20	0	1	0
chr17	9860068	9860068	C	T	exonic	GLP2R	.	nonsynonymous SNV	GLP2R:NM_004246:exon7:c.C892T:p.R298W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.885	P	0.432	B	0.066	N	1.000	N	2.83	M	0.96	T	-0.931	T	0.123	T	0.507	0.534	6.891	0.67	-0.026	-0.354	1.651	0.107	0.0264406488836	.	.	5.493e-05	0	0	0	0	0.0001	0	0	3.23e-05	5	154602	rs766910205	5.896e-05	6.02e-05	5.728e-05	6.065e-05	0.0002	4.887e-05	4.506e-05	5.605e-05	5.117e-05	0	2.258e-05	3.838e-05	2.527e-05	7.508e-05	0.0002	6.844e-05	3.318e-05	0	2.629e-05	2.627e-05	3.855e-05	1.345e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	6.549e-05	0	0.0002	0	0	2.94e-05	0	0	0.043	0.41364	D	0.022	0.92824	D	0.885	0.48692	P	0.432	0.45448	B	0.066475	0.21809	N	0.238863	0.999999	0.08975	N	3.065	0.87014	M	0.96	0.69536	T	-4.34	0.76822	D	0.276	0.32259	-0.9313	0.43948	T	0.123	0.42631	T	10	0.25310755	0.49728	T	0.026441	0.49346	D	0.107	0.30369	.	.	0.865506261627	0.86420	0.5728466928846966	0.57212	0.348214224296	0.36698	0.348063290119	0.17636	T	0.268958	0.64111	T	-0.141163	0.29705	T	-0.28107	0.46695	T	0.55628228187561	0.34714	D	0.532847	0.67793	T	0.12242722	0.28769	0.09458607	0.22395	0.12242722	0.28768	0.09458607	0.22394	-7.011	0.54114	T	.	.	0.101	0.23255	B	.;.;.	.;.;.	3.158166	0.42778	21.6	0.81329924110059593	0.13632	0.04000	0.09424	N	AEFBI	0.167525	0.29420	N	-0.307531332500517	0.28862	1.595499	-0.455562623041504	0.23391	1.275367	1.38695236418088E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.34	0.67	0.17092	-0.298000	0.08302	-0.550000	0.08534	-0.176000	0.10722	0.000000	0.06391	0.020000	0.20764	0.422000	0.27272	0.1389:0.4599:0.135:0.2663	1.651	0.02605	940	0.13648	GPCR, family 2-like;GPCR, family 2-like;GPCR, family 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	561.98	38	chr17	9860068	.	C	T	561.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.352;DP=807;ExcessHet=0.0000;FS=1.053;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.53;ReadPosRankSum=-1.351e+00;SOR=0.978	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1164	20	0	1	0
chr17	10327951	10327951	C	T	exonic	MYH13	.	nonsynonymous SNV	MYH13:NM_003802:exon22:c.G2606A:p.R869Q,	.	.	127	1382	12	1	0	14	0.0050396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.022	B	0.03	B	.	.	0.974	N	1.29	L	-1.65	D	-0.697	T	0.273	T	0.197	1.793	11.95	0.889	0.461	0.987	2.843	0.169	0.0574727187861	0.0004	0.00159744	0.0010	0.0003	0.0013	0	0	0.0012	0.0022	0.0018	0.0009767	151	154602	rs147387198	0.0009	0.0009	0.0009	0.0010	0.0068	0.0009	0.0009	0.0051	0.0045	0.0013	0.0012	0.0049	0	5.616e-05	0.0068	0.0007	0.0017	0.0022	0.0010	0.0010	0.0011	0.0009	0.0019	0.0009	0.0008	0.0012	0.0011	0.0003	0	0.0018	0.0029	0	0	0.0068	0.0013	0.0014	0.0019	0.021	0.49117	D	0.094	0.39645	T	0.022	0.18677	B	0.03	0.21741	B	.	.	.	.	0.973663	0.25534	N	0.345	0.11182	N	-1.65	0.82625	D	-0.73	0.20576	N	0.284	0.32148	-0.6967	0.60596	T	0.273	0.64484	T	9	0.00802055	0.00182	T	0.057473	0.66978	D	0.169	0.43123	.	.	0.59199265086	0.58876	0.7044643600532807	0.70388	0.121233005232	0.13654	0.311947196722	0.12201	T	0.140344	0.47483	T	-0.392155	0.02606	T	-0.343343	0.39966	T	0.0225377293476586	0.00969	T	0.933407	0.75038	D	0.09636679	0.22696	0.07225935	0.15567	0.09636679	0.22696	0.07225935	0.15567	-5.717	0.43845	T	.	.	0.093	0.13830	B	.;.;.	.;.;.	2.612686	0.33937	19.49	0.99791130782969417	0.87661	0.48747	0.28277	N	AEFGBHCI	0.103981	0.20818	N	-0.52756163477558	0.21192	1.122902	-0.499469386746867	0.22169	1.202779	1.33612256531026E-5	0.02871	0.525926	0.21836	0	0.600433	0.49495	0	0.596394	0.31383	0	0.584449	0.35598	0	.	.	4.01	0.889	0.18346	0.787000	0.26519	-2.479000	0.03704	0.596000	0.33519	0.327000	0.25564	0.000000	0.08366	0.563000	0.30483	0.0:0.3634:0.2358:0.4008	2.843	0.05196	86	0.96395	Myosin tail;Myosin tail;Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1153.98	36	chr17	10327951	.	C	T	1153.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.66;ReadPosRankSum=1.94;SOR=0.741	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1227	20	0	1	0
chr17	10362383	10362383	G	A	exonic	MYH13	.	nonsynonymous SNV	MYH13:NM_003802:exon4:c.C325T:p.R109C,	.	.	0	1511	10	1	0	12	0.00395517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	1.000	D	5.11	H	-1.92	D	1.080	D	0.890	D	0.964	3.024	16.09	4.4	2.445	6.233	17.513	0.884	.	7.7e-05	0.00319489	0.0018	9.61e-05	0.0002	0	0	8.99e-05	0.0011	0.0125	0.0015847	245	154602	rs200117357	0.0008	0.0008	0.0004	0.0012	0.0119	0.0008	0.0007	0.0113	0.0111	0.0001	2.236e-05	0	5.038e-05	0	0.0028	6.025e-05	0.0008	0.0119	0.0005	0.0005	0.0003	0.0007	0.0129	0.0004	0.0004	0.0103	0.0094	7.221e-05	0	0	0	0	0	0	0.0001	0	0.0129	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.99998	0.54805	D	3.645	0.94141	H	-1.92	0.84773	D	-6.22	0.90450	D	0.968	0.99100	1.080	0.98874	D	0.890	0.96345	D	9	0.037470937	0.02103	T	.	.	.	0.884	0.96614	.	.	0.924345301417	0.92358	0.7772875182400795	0.77678	0.583304359763	0.54049	0.907635331154	0.97242	D	0.85379	0.96695	D	0.096669	0.63931	D	0.377113	0.91325	D	0.212363624355918	0.21076	T	0.957504	0.83996	D	0.563561	0.70706	0.5261682	0.72624	0.563561	0.70707	0.5261682	0.72625	-13.168	0.90043	D	.	.	0.923	0.85851	P	.;.;.	.;.;.	5.246658	0.88089	29.5	0.99933971851284487	0.99535	0.96308	0.68506	D	AEFGBI	0.871856	0.79345	D	0.918980047670162	0.92657	11.55165	0.717545029198054	0.83711	8.094083	0.924162656883319	0.26770	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.4	4.4	0.52402	6.592000	0.73979	7.391000	0.58514	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.830000	0.39126	0.0:0.0:1.0:0.0	17.513	0.87661	64	0.97283	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2559.98	37	chr17	10362383	.	G	A	2559.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.173;DP=939;ExcessHet=0.0000;FS=4.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.32;MQRankSum=1.20;QD=11.96;ReadPosRankSum=-9.950e-01;SOR=0.765	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1575	20	0	1	0
chr17	10392944	10392944	G	C	exonic	MYH8	.	nonsynonymous SNV	MYH8:NM_002472:exon37:c.C5350G:p.R1784G,	Carney complex variant;Trismus-pseudocamptodactyly syndrome, Autosomal dominant	.	0	1512	10	0	0	10	0.00329598	.	.	208334	not_provided|Inborn_genetic_diseases|not_specified|Hecht_syndrome	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300,Orphanet:3377	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.995	D	0.961	D	0.002	U	0.997	D	3.115	M	-1.22	T	0.384	D	0.573	D	0.888	3.381	17.40	2.95	1.356	0.392	13.855	0.701	.	0.0043	0.00459265	0.0060	0.0014	0.0017	0	0.0062	0.0082	0.0077	0.0062	0.0060025	928	154602	rs141215006	0.0076	0.0076	0.0077	0.0074	0.0086	0.0074	0.0074	0.0085	0.0084	0.0014	0.0018	0.0039	0	0.0057	0.0010	0.0086	0.0073	0.0060	0.0047	0.0047	0.0047	0.0046	0.0075	0.0044	0.0043	0.0070	0.0067	0.0012	0	0.0031	0.0029	0	0.0048	0	0.0075	0.0033	0.0069	0.0	0.91255	D	0.027	0.55341	D	0.995	0.67487	D	0.961	0.70482	D	0.001970	0.37549	U	0.000000	0.997207	0.43707	D	3.105	0.87672	M	-1.22	0.78752	T	-4.8	0.80682	D	0.86	0.85660	0.384	0.88852	D	0.573	0.84563	D	10	0.03230071	0.01379	T	.	.	.	0.701	0.89238	.	.	0.822958799421	0.82128	0.8499270809954134	0.84954	0.823692342368	0.67291	0.847513914108	0.89238	D	0.543963	0.84435	D	0.005399	0.52397	T	0.240106	0.85151	D	0.0320476777092876	0.02313	T	0.911409	0.68582	D	0.66291595	0.76055	0.778295	0.86925	0.66291595	0.76056	0.778295	0.86925	-14.399	0.94281	D	0.6223064529928632	0.69079	0.532	0.66003	A	.	.	4.200516	0.63377	24.6	0.99845280588852903	0.92489	0.85671	0.44829	D	AEFBI	0.594085	0.58916	D	0.565146211244879	0.71010	5.586229	0.460607459518537	0.65400	4.819095	3.00733319635873E-4	0.06406	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.06	2.95	0.33285	0.467000	0.21747	0.162000	0.15417	0.676000	0.76740	0.998000	0.41325	0.473000	0.25062	0.970000	0.54328	0.0:0.0:0.6031:0.3969	13.855	0.63017	63	0.97314	Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3145.98	33	chr17	10392944	.	G	C	3145.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.900e-01;DP=968;ExcessHet=0.0000;FS=2.125;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.94;MQRankSum=1.05;QD=12.63;ReadPosRankSum=1.11;SOR=0.840	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1297	20	0	1	0
chr17	10395357	10395357	C	T	exonic	MYH8	.	nonsynonymous SNV	MYH8:NM_002472:exon34:c.G4738A:p.A1580T,	Carney complex variant;Trismus-pseudocamptodactyly syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	327079	Hecht_syndrome	MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300,Orphanet:3377	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.072	B	0.036	B	0.001	U	0.999	D	1.815	L	-1.26	T	-0.602	T	0.333	T	0.099	3.486	17.83	2.82	0.616	2.995	9.539	0.235	0.0161953350481	.	0.000199681	5.766e-05	0	8.637e-05	0	0	8.991e-05	0	0	6.47e-05	10	154602	rs181695343	7.867e-05	7.867e-05	6.262e-05	9.488e-05	0.0003	6.666e-05	6.201e-05	7.281e-05	5.824e-05	0	0.0002	7.652e-05	0.0002	0	0.0003	7.644e-05	8.279e-05	9.275e-05	0.0001	0.0001	8.996e-05	0.0001	0.0008	7.089e-05	5.746e-05	0.0005	0.0004	2.406e-05	0	0.0008	0	0.0004	0	0	2.941e-05	0	0	0.072	0.34982	T	0.209	0.26798	T	0.072	0.23997	B	0.036	0.22909	B	0.000885	0.41231	U	0.000000	0.999132	0.46149	D	2.26	0.64354	M	-1.26	0.79176	T	-2.06	0.47175	N	0.172	0.18376	-0.6016	0.64751	T	0.333	0.70035	T	10	0.14703086	0.27866	T	0.016195	0.37339	T	0.235	0.53788	.	.	0.703776758705	0.70120	0.121072828033133	0.12034	0.571743605247	0.53290	0.493223845959	0.37885	T	0.519828	0.83187	D	-0.301449	0.08523	T	-0.401488	0.33211	T	0.0581474690342337	0.06873	T	0.822818	0.48291	T	0.07645856	0.17292	0.12842607	0.30897	0.07645856	0.17291	0.12842607	0.30896	-8.142	0.62033	D	0.3687841192697082	0.46452	0.092	0.13409	B	.	.	2.920251	0.38767	20.8	0.99824338669766621	0.90677	0.91968	0.54654	D	AEFBI	0.414740	0.48388	N	-0.180944369769539	0.33929	1.930577	-0.0934997833114411	0.35658	2.065624	0.00708187691954142	0.11381	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.85	2.82	0.32061	3.181000	0.50603	1.771000	0.28634	0.599000	0.40250	0.994000	0.38300	0.925000	0.28409	0.930000	0.46718	0.142:0.7837:0.0:0.0743	9.539	0.38405	62	0.97349	Myosin tail	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1840.98	35	chr17	10395357	.	C	T	1840.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=887;ExcessHet=0.0000;FS=1.223;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.77;ReadPosRankSum=-1.515e+00;SOR=0.575	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1309	20	0	1	0
chr17	10395407	10395407	C	T	exonic	MYH8	.	nonsynonymous SNV	MYH8:NM_002472:exon34:c.G4688A:p.R1563H,	Carney complex variant;Trismus-pseudocamptodactyly syndrome, Autosomal dominant	.	20	1495	7	0	0	7	0.00233567	.	.	327085	Hecht_syndrome	MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300,Orphanet:3377	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.13	B	0.064	B	0.015	N	0.960	D	3.395	M	-1.88	D	0.338	D	0.649	D	0.457	3.224	16.80	3.89	1.285	4.717	13.501	0.512	0.0112357876322	.	0.000199681	0.0004	9.634e-05	0.0011	0	0	0.0003	0	0.0012	0.0003752	58	154602	rs544591533	0.0002	0.0002	0.0001	0.0003	0.0014	0.0002	0.0002	0.0011	0.0011	8.961e-05	0.0005	0.0012	0.0002	3.744e-05	0.0014	6.475e-05	0.0004	0.0013	0.0001	0.0001	8.997e-05	0.0001	0.0008	7.575e-05	6.28e-05	0.0003	0.0002	0	0	0.0002	0.0020	0	0	0	5.883e-05	0	0.0008	0.034	0.44029	D	0.025	0.56192	D	0.13	0.27095	B	0.064	0.27215	B	0.015126	0.28333	N	0.165679	0.959991	0.38156	D	3.61	0.93830	H	-1.88	0.84487	D	-3.38	0.66780	D	0.327	0.36779	0.338	0.88154	D	0.649	0.87754	D	10	0.049608737	0.04574	T	0.011236	0.28661	T	0.512	0.79094	.	.	0.801505490569	0.79965	0.26332399225704306	0.26245	0.252307128411	0.27798	0.618071198463	0.55457	T	0.643014	0.89075	D	-0.213328	0.18914	T	-0.124759	0.61409	T	0.13078168191902	0.15454	T	0.829517	0.49484	T	0.110277876	0.26068	0.13361154	0.32034	0.110277876	0.26068	0.13361154	0.32033	-11.689	0.83303	D	0.5093695489091267	0.58335	0.117	0.23605	B	.	.	3.933766	0.57511	23.9	0.99457749312671673	0.65633	0.95464	0.64825	D	AEFBI	0.703325	0.65940	D	0.0475727841921327	0.44032	2.684646	0.103389680070243	0.44721	2.748457	0.990881869966933	0.32301	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.85	3.89	0.44098	4.937000	0.63213	4.851000	0.45376	-0.173000	0.11020	0.983000	0.35670	1.000000	0.68203	0.944000	0.48669	0.0:0.9248:0.0:0.0752	13.501	0.60911	62	0.97349	Myosin tail	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1778.98	35	chr17	10395407	.	C	T	1778.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.14;DP=861;ExcessHet=0.0000;FS=5.168;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.53;ReadPosRankSum=0.153;SOR=1.106	GT:AD:DP:GQ:PL	0/1:75,67:142:99:1793,0,1785	20	0	1	0
chr17	10396456	10396456	T	C	splicing	MYH8	NM_002472:exon33:c.4529-2A>G	.	.	Carney complex variant;Trismus-pseudocamptodactyly syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	1.0000	0.944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.179	21.6	5.26	2.215	7.634	15.348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342326	0.85988	D	0.253951	0.85804	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.748678	0.93368	33	0.99429431675393021	0.64179	0.97499	0.75145	D	AEFBI	.	.	.	1.12626500785348	0.98591	18.72985	0.973135479473418	0.98036	17.285	0.999983080413043	0.51787	0.061011	0.01085	0	0.059962	0.00310	0	0.063197	0.01477	0	0.057018	0.00518	0	0.968889	0.71240	5.26	5.26	0.73479	7.852000	0.85247	7.813000	0.69496	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.0:0.0:0.0:1.0	15.348	0.74064	62	0.97349	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	630.98	33	chr17	10396456	.	T	C	630.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.708e+00;DP=764;ExcessHet=0.0000;FS=1.936;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.64;ReadPosRankSum=0.177;SOR=0.805	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1081	20	0	1	0
chr17	10399648	10399648	G	A	exonic	MYH8	.	nonsynonymous SNV	MYH8:NM_002472:exon28:c.C3757T:p.R1253C,	Carney complex variant;Trismus-pseudocamptodactyly syndrome, Autosomal dominant	.	1	1502	18	1	0	20	0.00661376	.	.	135122	not_specified|not_provided|Hecht_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300,Orphanet:3377	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.999	D	0.971	D	0.001	U	1.000	D	3.585	H	-1.25	T	0.070	D	0.358	T	0.254	3.217	16.78	4.4	1.481	1.720	11.208	0.653	.	0.0044	0.0061901	0.0023	0.0149	0.0022	0	0	0.0010	0.0033	0.0016	0.0021216	328	154602	rs34953692	0.0011	0.0011	0.0011	0.0012	0.0140	0.0011	0.0011	0.0130	0.0126	0.0140	0.0020	0.0047	0	5.617e-05	0.0066	0.0005	0.0022	0.0024	0.0045	0.0045	0.0049	0.0040	0.0130	0.0042	0.0041	0.0121	0.0117	0.0130	0	0.0027	0.0023	0	9.439e-05	0.0102	0.0010	0.0052	0.0015	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.971	0.72444	D	0.000888	0.41231	U	0.000000	0.999992	0.58761	D	3.96	0.96509	H	-1.25	0.79072	T	-5.29	0.84315	D	0.779	0.77601	0.070	0.83609	D	0.358	0.72030	T	10	0.018030345	0.00389	T	.	.	.	0.653	0.86936	.	.	0.882188867902	0.88103	0.4019354996143697	0.40109	0.306107796148	0.32911	0.474874794483	0.35352	T	0.626373	0.88361	D	-0.301904	0.08481	T	-0.195409	0.55082	T	0.0511946046299762	0.05708	T	0.945705	0.79334	D	0.38659176	0.59789	0.30534244	0.56561	0.38659176	0.59789	0.30534244	0.56561	-11.99	0.84803	D	0.8695657338060478	0.93066	0.159	0.35140	B	.	.	4.897138	0.80455	27.3	0.99931902908608616	0.99439	0.97935	0.78249	D	AEFBI	0.705947	0.66117	D	0.656265040946837	0.76777	6.549055	0.536456896305632	0.70463	5.508625	0.00167059773651133	0.08760	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.38	4.4	0.52402	1.908000	0.39537	6.527000	0.55847	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.394000	0.26647	0.0:0.1383:0.718:0.1438	11.208	0.48010	61	0.97388	Myosin tail	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	756.98	35	chr17	10399648	.	G	A	756.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.400e-01;DP=751;ExcessHet=0.0000;FS=4.923;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.97;ReadPosRankSum=1.01;SOR=0.317	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1178	20	0	1	0
chr17	10444893	10444893	C	G	exonic	MYH4	.	nonsynonymous SNV	MYH4:NM_017533:exon38:c.G5473C:p.E1825Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.884	P	0.962	D	0.002	U	1.000	D	2.435	M	-1.96	D	0.635	D	0.772	D	0.57	4.785	26.9	5.5	2.744	7.748	19.774	0.720	0.043961900711	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1309927142	2.052e-06	2.052e-06	0	4.125e-06	0.0002	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	0	0	2.319e-05	6.571e-06	6.567e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.182	0.29249	T	0.884	0.48618	P	0.962	0.70672	D	0.001944	0.37596	U	0.000000	0.999999	0.58761	D	2.42	0.70002	M	-1.96	0.85091	D	-1.97	0.45587	N	0.441	0.47949	0.635	0.92348	D	0.772	0.92237	D	10	0.5063022	0.61838	D	0.043962	0.61252	D	0.720	0.90101	0.561	0.68093	0.968850998057	0.96851	0.1561665466704627	0.15537	0.625846089708	0.56744	0.693587601185	0.66221	T	0.338155	0.70745	T	0.138964	0.68227	D	-0.0381642	0.67824	D	0.964693367481232	0.67036	D	0.89781	0.64256	D	0.1628397	0.36387	0.19435266	0.43054	0.1628397	0.36386	0.19435266	0.43053	-11.005	0.79686	D	.	.	0.166	0.36594	B	.	.	4.731919	0.76216	26.5	0.99847789241272056	0.92750	0.99668	0.98504	D	AEFI	0.919976	0.89128	D	0.843135024339409	0.88714	9.683252	0.825351227834742	0.91499	10.917	0.999999991846724	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.5	5.5	0.81386	7.858000	0.85341	7.593000	0.61311	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.822000	0.38733	0.0:1.0:0.0:0.0	19.774	0.96379	83	0.96533	Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3290.98	248	chr17	10444893	.	C	G	3290.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.430e-01;DP=957;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.27;ReadPosRankSum=1.27;SOR=0.721	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1388	20	0	1	0
chr17	10445058	10445058	T	C	exonic	MYH4	.	nonsynonymous SNV	MYH4:NM_017533:exon37:c.A5384G:p.K1795R,	.	.	3	1502	16	1	0	18	0.00595632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.746	P	0.558	P	0.001	U	1.000	D	1.925	M	-1.56	D	0.026	D	0.487	T	0.437	3.418	17.55	5.5	2.214	7.994	15.887	0.521	0.0171466064539	.	0.00119808	0.0008	0	0.0010	0	0	0.0009	0.0022	0.0016	0.0007374	114	154602	rs75173310	0.0007	0.0007	0.0006	0.0008	0.0050	0.0007	0.0006	0.0036	0.0031	0.0001	0.0009	0.0048	0	5.616e-05	0.0050	0.0005	0.0010	0.0023	0.0007	0.0007	0.0008	0.0006	0.0014	0.0006	0.0006	0.0010	0.0008	9.617e-05	0	0.0014	0.0023	0	0	0.0102	0.0009	0.0014	0.0012	0.085	0.32769	T	0.135	0.34124	T	0.746	0.43152	P	0.558	0.49494	P	0.001450	0.38980	U	0.000000	0.999957	0.52396	D	2.295	0.65404	M	-1.56	0.81815	D	-1.51	0.36787	N	0.645	0.65673	0.026	0.82768	D	0.487	0.80471	T	10	0.019298017	0.00429	T	0.017147	0.38730	T	0.521	0.79643	.	.	0.935059351078	0.93439	0.10215513108881813	0.10145	0.159160048467	0.17961	0.604561567307	0.53548	T	0.241037	0.60948	T	-0.240789	0.15248	T	-0.137668	0.60320	T	0.0966463444183236	0.11983	T	0.816118	0.47137	T	0.16478547	0.36709	0.253546	0.51004	0.16478547	0.36708	0.253546	0.51003	-8.226	0.62600	D	.	.	0.110	0.21277	B	.	.	4.251994	0.64550	24.7	0.99821890340927522	0.90502	0.98752	0.86398	D	AEFGI	0.939887	0.94108	D	0.42700006356707	0.62910	4.515149	0.440625954321186	0.64117	4.659655	0.999989807648296	0.51787	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.5	5.5	0.81386	7.966000	0.87508	5.014000	0.46692	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.246000	0.23158	0.0:0.0:0.0:1.0	15.887	0.79038	83	0.96533	Myosin tail	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3810.98	38	chr17	10445058	.	T	C	3810.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.489;DP=1994;ExcessHet=0.0000;FS=0.459;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.87;MQRankSum=1.55;QD=15.12;ReadPosRankSum=-1.079e+00;SOR=0.727	GT:AD:DP:GQ:PL	0/0:109,0:109:99:0,120,1800	20	0	1	0
chr17	10447996	10447996	-	T	exonic	MYH4	.	frameshift insertion	MYH4:NM_017533:exon34:c.4786dupA:p.R1596Kfs*13,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.841e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	5137.94	34	chr17	10447996	.	C	CT	5137.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.290e-01;DP=994;ExcessHet=0.0000;FS=6.843;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.63;ReadPosRankSum=0.721;SOR=0.436	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1301	20	0	1	0
chr17	10448672	10448672	C	-	exonic	MYH4	.	frameshift deletion	MYH4:NM_017533:exon32:c.4477delG:p.E1493Rfs*10,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0.0005	0	0	0.0011	0.0007	0.00011	17	154602	rs773763976	6.978e-05	6.977e-05	5.581e-05	8.388e-05	0.0007	5.847e-05	5.457e-05	0.0006	0.0005	0	0	0	0.0005	0	0	0	0.0003	0.0007	4.595e-05	4.593e-05	2.569e-05	6.711e-05	0.0008	2.107e-05	1.526e-05	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2369.94	34	chr17	10448671	.	TC	T	2369.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.000e-02;DP=897;ExcessHet=0.0000;FS=1.829;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=-2.920e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1288	20	0	1	0
chr17	10451410	10451410	T	G	exonic	MYH4	.	nonsynonymous SNV	MYH4:NM_017533:exon28:c.A3781C:p.S1261R,	.	.	437	1046	36	3	0	42	0.0196813	.	.	703935	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.849	P	0.649	P	0.001	U	0.979	D	2.865	M	-1.65	D	0.444	D	0.646	D	0.629	4.172	21.6	5.62	2.263	2.043	11.245	0.607	0.0247948073885	0.0024	0.00239617	0.0032	0.0004	0.0017	0	0.0009	0.0040	0.0066	0.0049	0.0031694	490	154602	rs34610503	0.0036	0.0036	0.0036	0.0037	0.0113	0.0035	0.0035	0.0091	0.0083	0.0004	0.0028	0.0067	2.52e-05	0.0011	0.0113	0.0037	0.0035	0.0061	0.0025	0.0025	0.0025	0.0026	0.0058	0.0023	0.0022	0.0041	0.0036	0.0006	0	0.0042	0.0087	0	0.0007	0	0.0033	0.0062	0.0058	0.002	0.72154	D	0.077	0.42436	T	0.849	0.46879	P	0.649	0.52426	P	0.000505	0.43753	U	0.000000	0.979355	0.39553	D	2.515	0.73286	M	-1.65	0.82625	D	-2.37	0.52289	N	0.587	0.60749	0.444	0.89748	D	0.646	0.87653	D	10	0.017565101	0.00376	T	0.024795	0.47786	T	0.607	0.84559	0.565	0.68633	0.944002009858	0.94341	0.14116267411786126	0.14039	0.190587588975	0.21375	0.56471145153	0.47932	T	0.468192	0.80222	T	-0.2002	0.20777	T	-0.0587076	0.66422	T	0.0515196940533941	0.05765	T	0.850115	0.53348	D	0.19272667	0.40953	0.405725	0.64965	0.19272667	0.40953	0.405725	0.64965	-13.597	0.91673	D	.	.	0.515	0.65265	A	.	.	4.385015	0.67628	25.1	0.998307327270469	0.91284	0.89744	0.50408	D	AEFI	0.493322	0.52958	N	0.520811354633792	0.68320	5.20122	0.500269396938839	0.68008	5.161289	0.00325402333299923	0.10018	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.62	5.62	0.85714	3.247000	0.51123	7.874000	0.72122	0.665000	0.62972	0.995000	0.38783	0.997000	0.33255	0.997000	0.79791	0.1365:0.0:0.0:0.8635	11.245	0.48221	90	0.96275	Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1241.98	34	chr17	10451410	.	T	G	1241.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.941;DP=814;ExcessHet=0.0000;FS=2.393;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.94;ReadPosRankSum=-4.300e-01;SOR=0.991	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1313	20	0	1	0
chr17	10452917	10452917	C	T	exonic	MYH4	.	nonsynonymous SNV	MYH4:NM_017533:exon25:c.G3127A:p.E1043K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.991	D	0.834	P	0.002	U	1.000	D	2.38	M	-4.05	D	1.043	D	0.921	D	0.845	4.710	26.2	5.42	2.699	7.257	18.149	0.817	0.264365851459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.889e-07	6.841e-07	0	1.386e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.244	0.24123	T	0.991	0.64070	D	0.834	0.59825	P	0.001849	0.37840	U	0.000000	0.999999	0.58761	D	2.335	0.66956	M	-4.05	0.96496	D	-3.21	0.64826	D	0.453	0.49055	1.043	0.97979	D	0.921	0.97395	D	10	0.63910675	0.68953	D	0.264366	0.89633	D	0.817	0.94123	0.362	0.36711	0.992822871289	0.99274	0.25529316563114457	0.25443	0.73425784967	0.62887	0.858462631702	0.90883	D	0.478933	0.80855	T	0.421728	0.91111	D	0.368006	0.91001	D	0.992875456809998	0.83475	D	0.960204	0.84976	D	0.20713145	0.42909	0.2965153	0.55684	0.20713145	0.42909	0.2965153	0.55683	-12.186	0.85745	D	.	.	0.232	0.46481	B	.	.	5.080719	0.84794	28.4	0.99860044461883368	0.93820	0.98094	0.79547	D	AEFI	0.855544	0.77267	D	0.800762762993431	0.86154	8.795088	0.788278395455453	0.88965	9.785529	0.999935905545482	0.46732	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	5.622000	0.67427	7.604000	0.61663	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.149	0.89599	92	0.96160	Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1068.98	33	chr17	10452917	.	C	T	1068.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=783;ExcessHet=0.0000;FS=1.671;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.80;ReadPosRankSum=-5.370e-01;SOR=0.883	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1331	20	0	1	0
chr17	10460243	10460243	A	T	exonic	MYH4	.	nonsynonymous SNV	MYH4:NM_017533:exon13:c.T1226A:p.V409D,	.	.	2	1503	17	0	0	17	0.00562355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.005	U	1.000	D	4.175	H	-2.37	D	1.052	D	0.894	D	0.983	4.677	25.8	5.56	2.249	9.275	16.012	0.913	0.100397731126	.	0.000998403	0.0007	0	0.0003	0.0001	0	0.0002	0	0.0039	0.0006468	100	154602	rs142060534	0.0004	0.0004	0.0002	0.0005	0.0052	0.0003	0.0003	0.0037	0.0033	2.987e-05	0.0005	0	5.038e-05	0	0.0052	0.0001	0.0006	0.0036	0.0003	0.0003	0.0002	0.0005	0.0056	0.0002	0.0002	0.0040	0.0034	4.812e-05	0	0.0001	0	0	0	0.0034	0.0002	0	0.0056	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.004526	0.33648	U	0.000000	1	0.81001	D	3.22	0.89398	M	-2.37	0.88220	D	-5.81	0.88224	D	0.905	0.90590	1.052	0.98161	D	0.894	0.96478	D	10	0.12687308	0.24123	T	0.100398	0.77265	D	0.913	0.97700	0.86	0.95774	0.988864112231	0.98873	0.7519259962234865	0.75139	0.89452390681	0.70386	0.81251937151	0.83878	D	0.842181	0.96329	D	0.134241	0.67772	D	0.417946	0.92677	D	0.143717803468275	0.16591	T	0.980002	0.93225	D	0.7806963	0.82696	0.8324899	0.90347	0.7806963	0.82698	0.8324899	0.90348	-15.54	0.96988	D	.	.	0.999	0.98051	P	.	.	4.819828	0.78497	26.9	0.98655102163559216	0.44247	0.96378	0.68846	D	ALL	0.922753	0.89818	D	1.03534693194306	0.96731	15.06908	0.930012989068574	0.96754	15.09935	0.999999999396776	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.56	5.56	0.83678	9.265000	0.94799	11.196000	0.88846	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	1.0:0.0:0.0:0.0	16.012	0.80209	105	0.95676	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2520.98	38	chr17	10460243	.	A	T	2520.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.17;DP=976;ExcessHet=0.0000;FS=3.632;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.48;ReadPosRankSum=-1.561e+00;SOR=0.988	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr17	10496414	10496414	C	A	exonic	MYH1	.	nonsynonymous SNV	MYH1:NM_005963:exon34:c.G4792T:p.V1598L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.0	B	0.004	B	0.002	U	1.000	D	-0.105	N	-0.97	T	-0.866	T	0.173	T	0.21	1.857	12.17	5.52	2.734	2.346	15.294	0.141	0.0096086716284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.22138	T	0.997	0.02325	T	0.0	0.02946	B	0.004	0.10090	B	0.001530	0.38731	U	0.000000	0.993686	0.42019	D	0.19	0.09125	N	-0.97	0.75670	T	-1.04	0.27259	N	0.312	0.35194	-0.8661	0.50820	T	0.173	0.51627	T	10	0.20825344	0.37148	T	0.009609	0.25130	T	0.141	0.37795	0.608	0.74063	0.609218927916	0.60608	0.20295589470920436	0.20212	0.0943879978921	0.10659	0.454253554344	0.32526	T	0.260345	0.63171	T	-0.111066	0.34591	T	-0.397315	0.33696	T	0.298752695322037	0.24952	T	0.894511	0.63379	D	0.14185065	0.32668	0.15165259	0.35713	0.14185065	0.32667	0.15165259	0.35712	-7.273	0.56003	T	.	.	0.266	0.50007	B	.	.	2.881732	0.38135	20.7	0.98136734467870401	0.38563	0.96829	0.71164	D	AEFDGBI	0.374059	0.45910	N	-0.288561915096473	0.29589	1.642224	-0.0320121931406997	0.38276	2.252882	0.214712847811345	0.18283	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.52	5.52	0.82153	2.373000	0.43920	4.660000	0.44233	0.511000	0.23309	0.980000	0.35271	1.000000	0.68203	0.959000	0.51448	0.0:0.8604:0.1396:0.0	15.294	0.73590	169	0.93437	Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2970.98	39	chr17	10496414	.	C	A	2970.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.63;DP=1018;ExcessHet=0.0000;FS=1.550;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.84;MQRankSum=0.400;QD=12.13;ReadPosRankSum=-1.323e+00;SOR=0.830	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1192	20	0	1	0
chr17	10504902	10504902	G	T	exonic	MYH1	.	nonsynonymous SNV	MYH1:NM_005963:exon22:c.C2599A:p.L867M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.75	P	0.493	P	0.002	U	0.980	N	3.475	M	-1.98	D	0.115	D	0.688	D	0.387	0.829	8.340	4.51	1.459	1.434	10.181	0.438	0.022174900929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.026	0.55759	D	0.75	0.43260	P	0.493	0.47443	P	0.001606	0.38497	U	0.000000	0.999929	0.19486	N	2.99	0.85699	M	-1.98	0.85247	D	-1.43	0.35194	N	0.526	0.55540	0.115	0.84442	D	0.688	0.89243	D	10	0.66456807	0.70351	D	0.022175	0.45042	T	0.438	0.74235	0.408	0.44230	0.820810188889	0.81911	0.21550633353285725	0.21466	0.485832983668	0.47462	0.45235234499	0.32265	T	0.48102	0.80976	T	0.0611275	0.59754	T	-0.149971	0.59246	T	0.899211764335632	0.55147	D	0.89651	0.63872	D	0.2280279	0.45514	0.18981925	0.42350	0.2280279	0.45514	0.18981925	0.42349	-9.23	0.69165	D	.	.	0.124	0.26169	B	.	.	3.073296	0.41320	21.3	0.99263366109164186	0.57289	0.63537	0.32120	D	AEFBI	0.274110	0.38937	N	0.0975901798143197	0.46350	2.876718	-0.0593271003740964	0.37089	2.166991	4.33321984620948E-4	0.06970	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.48	4.51	0.54589	1.846000	0.38929	3.897000	0.40328	0.672000	0.70159	0.856000	0.30544	1.000000	0.68203	0.002000	0.04165	0.0709:0.1373:0.7917:0.0	10.181	0.42146	177	0.93145	Myosin tail	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1315.98	119	chr17	10504902	.	G	T	1315.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=806;ExcessHet=0.0000;FS=8.430;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.06;ReadPosRankSum=-2.016e+00;SOR=1.256	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1205	20	0	1	0
chr17	10516230	10516230	A	G	exonic	MYH1	.	nonsynonymous SNV	MYH1:NM_005963:exon4:c.T317C:p.L106P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.002	U	1.000	D	4.98	H	-1.97	D	1.061	D	0.884	D	0.996	4.571	24.8	5.39	2.252	9.127	15.569	0.910	0.21347504787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	3.42e-06	0	6.875e-06	4.496e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.013	0.63109	D	1.0	0.90584	D	1.0	0.97372	D	0.001500	0.38855	U	0.000000	1	0.81001	D	4.675	0.99424	H	-1.97	0.85173	D	-5.15	0.83357	D	0.987	0.99548	1.061	0.98357	D	0.884	0.96155	D	10	0.98537827	0.98787	D	0.213475	0.87408	D	0.910	0.97587	0.925	0.98740	0.956215424334	0.95574	0.7267823044300343	0.72622	0.779315368575	0.65198	0.938331007957	0.99391	D	0.977787	0.99797	D	0.451361	0.92542	D	0.410572	0.92449	D	0.999499678611755	0.97632	D	0.979102	0.92705	D	0.97190833	0.98436	0.9723707	0.99564	0.97190833	0.98436	0.9723707	0.99564	-14.824	0.95426	D	.	.	1.000	0.99395	P	.	.	5.405280	0.90499	31	0.99905916669177997	0.97651	0.99123	0.91564	D	AEFHI	0.955661	0.97366	D	1.14214162137844	0.98842	19.57932	1.01142756519429	0.98836	19.55657	0.999999927540271	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.39	5.39	0.77615	9.313000	0.95362	11.184000	0.88420	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.569	0.76062	209	0.91859	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3398.98	36	chr17	10516230	.	A	G	3398.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.724e+00;DP=994;ExcessHet=0.0000;FS=0.943;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=-1.099e+00;SOR=0.628	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1433	20	0	1	0
chr17	10523831	10523831	C	T	exonic	MYH2	.	nonsynonymous SNV	MYH2:NM_001100112:exon36:c.G5229A:p.M1743I	Proximal myopathy and ophthalmoplegia, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.0	B	0.0	B	0.220	N	1.000	N	0.3	N	-1.1	T	-1.006	T	0.149	T	0.113	0.796	8.191	-9.68	-1.956	-4.859	5.975	0.198	0.0127865930747	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1042299	3.42e-06	3.42e-06	2.723e-06	4.125e-06	4.497e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0	0	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.423	0.09746	T	0.163	0.31125	T	0.0	0.02946	B	0.0	0.01387	B	0.219838	0.16165	N	0.440276	1	0.81001	D	0.565	0.15224	N	-1.1	0.77336	T	0.25	0.04456	N	0.249	0.28146	-1.0065	0.28004	T	0.149	0.47487	T	10	0.06756088	0.09430	T	0.012787	0.31668	T	0.198	0.48105	0.413	0.45052	0.32980341726	0.32591	0.18926248756716582	0.18844	0.377242744359	0.39159	0.566785991192	0.48224	T	0.129254	0.45741	T	-0.184615	0.23052	T	-0.502963	0.22040	T	0.0405007787048817	0.03782	T	0.654235	0.26451	T	0.048848353	0.08579	0.03834892	0.03684	0.048848353	0.08579	0.03834892	0.03684	-0.922	0.00917	T	0.15926143194542594	0.19352	0.092	0.15966	B	.;.	.;.	-1.649551	0.00217	0.003	0.75013498224509823	0.10912	0.04783	0.10497	N	AEFBI	0.080918	0.16366	N	-1.60076502729641	0.01260	0.05485549	-1.65012036285472	0.01375	0.06212121	0.745832044900636	0.23283	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.4	-9.68	0.00441	-3.962000	0.00366	-12.695000	0.00507	-0.305000	0.06155	0.000000	0.06391	0.000000	0.08366	0.994000	0.71098	0.1684:0.5131:0.1561:0.1625	5.975	0.18606	425	0.81160	Myosin tail;Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1374.98	38	chr17	10523831	.	C	T	1374.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.769e+00;DP=879;ExcessHet=0.0000;FS=1.762;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.03;ReadPosRankSum=-1.445e+00;SOR=0.518	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1096	20	0	1	0
chr17	10524954	10524954	G	T	exonic	MYH2	.	nonsynonymous SNV	MYH2:NM_001100112:exon34:c.C4774A:p.L1592M	Proximal myopathy and ophthalmoplegia, Autosomal recessive, Autosomal dominant	.	0	1487	32	3	0	38	0.0126162	.	.	256025	Myopathy,_proximal,_and_ophthalmoplegia|not_provided|not_specified	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637,Orphanet:363677,Orphanet:79091|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.23	T	0.015	B	0.123	B	0.119	N	1.000	N	1.7	L	-1.22	T	-0.639	T	0.333	T	0.228	0.456	6.474	1.27	-0.059	-0.185	8.002	0.148	.	0.0009	0.00219649	0.0031	0.0005	0.0010	0.0003	0.0008	0.0010	0.0044	0.0172	0.0002393	37	154602	rs138393827	0.0018	0.0018	0.0013	0.0022	0.0164	0.0017	0.0017	0.0157	0.0154	0.0004	0.0007	0.0006	0.0006	0.0007	0.0045	0.0008	0.0020	0.0164	0.0011	0.0011	0.0010	0.0012	0.0120	0.0009	0.0009	0.0096	0.0087	0.0004	0	0.0009	0.0006	0.0006	0.0003	0	0.0010	0.0014	0.0120	0.091	0.31834	T	0.224	0.25591	T	0.015	0.17086	B	0.123	0.32463	B	0.118968	0.19093	N	0.272577	1	0.81001	D	1.92	0.51302	L	-1.22	0.78752	T	-0.73	0.20576	N	0.217	0.24260	-0.6386	0.63205	T	0.333	0.70051	T	10	0.009239972	0.00209	T	.	.	.	0.148	0.39182	.	.	0.524166996187	0.52061	0.13048176339087816	0.12973	0.34671068729	0.36577	0.380961924791	0.22393	T	0.321681	0.69275	T	-0.420978	0.01686	T	-0.364509	0.37529	T	0.00270645215745756	0.00028	T	0.525947	0.17303	T	0.095729694	0.22535	0.060628902	0.11577	0.09626438	0.22671	0.07062985	0.15028	-6.408	0.49572	T	0.1937811033623132	0.25510	0.080	0.08368	B	.;.	.;.	1.828592	0.23235	15.94	0.95352617738502965	0.26740	0.60875	0.31321	D	AEFBI	0.109154	0.21691	N	-0.770774773042775	0.14075	0.6982729	-0.702523042184392	0.16898	0.8960642	1.57835060714899E-5	0.02871	0.638212	0.43195	0	0.563428	0.19063	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.55	1.27	0.20595	-0.436000	0.06992	-0.396000	0.09442	-0.825000	0.02924	0.087000	0.22510	0.000000	0.08366	0.968000	0.53726	0.119:0.0:0.4051:0.4759	8.002	0.29460	444	0.79803	Myosin tail;Myosin tail	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	2863.98	39	chr17	10524954	.	G	T	2863.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.825e+00;DP=1034;ExcessHet=0.0000;FS=4.980;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.14;MQRankSum=-1.425e+01;QD=10.65;ReadPosRankSum=1.24;SOR=0.979	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1245	20	0	1	0
chr17	10529864	10529864	C	T	exonic	MYH2	.	nonsynonymous SNV	MYH2:NM_001100112:exon23:c.G2908A:p.V970I	Proximal myopathy and ophthalmoplegia, Autosomal recessive, Autosomal dominant	.	4	1508	10	0	0	10	0.00330469	.	.	192930	not_specified|Myopathy,_proximal,_and_ophthalmoplegia|not_provided	MedGen:CN169374|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637,Orphanet:363677,Orphanet:79091|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.947	P	0.78	P	0.003	U	1.000	D	2.415	M	-2.76	D	0.564	D	0.752	D	0.742	4.384	23.2	5.15	2.661	4.504	18.795	0.693	.	0.0042	0.00459265	0.0060	0.0015	0.0016	0	0.0062	0.0082	0.0077	0.0061	0.003842	100	26028	rs143872329	0.0076	0.0076	0.0077	0.0074	0.0086	0.0074	0.0074	0.0085	0.0084	0.0014	0.0018	0.0039	0	0.0057	0.0011	0.0086	0.0073	0.0058	0.0046	0.0046	0.0047	0.0046	0.0074	0.0043	0.0042	0.0069	0.0067	0.0012	0	0.0031	0.0029	0	0.0049	0	0.0074	0.0033	0.0062	0.002	0.72154	D	0.208	0.26883	T	0.947	0.53479	P	0.78	0.57283	P	0.003193	0.35300	U	0.000000	0.999992	0.81001	D	2.77	0.80896	M	-2.76	0.90848	D	-0.81	0.22294	N	0.764	0.79889	0.564	0.91425	D	0.752	0.91560	D	10	0.011111289	0.00244	T	.	.	.	0.693	0.88867	.	.	0.901784840647	0.90081	0.18940080383731528	0.18858	1.21672266413	0.80990	0.814571619034	0.84194	D	0.162033	0.50653	T	-0.0624664	0.42521	T	0.142622	0.79715	D	0.055827840425828	0.06496	T	0.90031	0.65351	D	0.37442148	0.58909	0.31558174	0.57543	0.4495973	0.64016	0.29864213	0.55897	-8.315	0.63196	D	0.2297006620248073	0.31074	0.362	0.58948	A	.;.	.;.	4.194224	0.63243	24.6	0.99765131451905331	0.85417	0.94322	0.60797	D	AEFBI	0.502784	0.53505	D	0.657507195869444	0.76855	6.564086	0.642565800272841	0.78058	6.80048	0.999999929498248	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.15	5.15	0.70287	5.847000	0.69173	7.386000	0.58483	0.454000	0.21428	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	18.795	0.91956	440	0.80101	Myosin tail;Myosin tail	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	3065.98	34	chr17	10529864	.	C	T	3065.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.432;DP=1035;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=49.21;MQRankSum=1.20;QD=13.81;ReadPosRankSum=-3.390e-01;SOR=0.690	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	20	0	1	0
chr17	10632535	10632535	C	T	exonic	MYH3	.	nonsynonymous SNV	MYH3:NM_002470:exon34:c.G4897A:p.A1633T,	Arthrogryposis, distal, type 2A, Autosomal dominant;Arthrogryposis, distal, type 2B, Autosomal dominant;Arthrogryposis, distal, type 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.196	B	0.532	P	.	.	1.000	D	3	M	-1.28	T	0.324	D	0.700	D	0.725	5.591	35	5.77	2.885	6.000	20.363	0.609	0.0562098951223	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374056469	6.841e-06	6.84e-06	5.445e-06	8.251e-06	2.987e-05	3.46e-06	2.52e-06	3.09e-06	2.24e-06	2.987e-05	0	0	0	0	0	7.194e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.48855	D	0.196	0.29532	B	0.532	0.48601	P	.	.	.	.	0.99999	0.58761	D	2.735	0.79925	M	-1.28	0.79376	T	.	.	.	0.402	0.44283	0.324	0.87932	D	0.700	0.89668	D	9	0.48099178	0.60429	T	0.05621	0.66522	D	.	.	0.721	0.85585	0.815868238144	0.81413	0.5059464015364288	0.50516	0.485768874065	0.47451	0.706112623215	0.68030	T	0.631076	0.88567	D	0.19949	0.73844	D	0.0487776	0.73503	D	0.958891928195953	0.65391	D	0.855414	0.54290	D	0.49252048	0.66652	0.5799822	0.75656	0.49252048	0.66653	0.5799822	0.75657	-9.644	0.71753	D	0.3936906831234587	0.48651	0.098	0.16319	B	.	.	4.699748	0.75395	26.3	0.99931019852431668	0.99387	0.98924	0.88695	D	AEFDBI	0.747395	0.68946	D	0.554530731520085	0.70359	5.489874	0.623687300928881	0.76664	6.532857	0.999999999999801	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.77	5.77	0.91077	6.083000	0.70975	4.007000	0.41127	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.998000	0.85391	0.0:1.0:0.0:0.0	20.363	0.98865	664	0.61548	Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1867.98	81	chr17	10632535	.	C	T	1867.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=1683;ExcessHet=0.0000;FS=0.586;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=-2.586e+00;SOR=0.761	GT:AD:DP:GQ:PL	0/0:71,0:71:99:0,120,1800	20	0	1	0
chr17	11557948	11557948	A	G	exonic	SHISA6	.	nonsynonymous SNV	SHISA6:NM_001173461:exon4:c.A1147G:p.S383G	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	0.0	B	0.002	B	0.010	N	0.988	N	-0.41	N	.	.	-1.001	T	0.026	T	0.008	0.403	6.189	-0.772	0.029	0.430	4.584	0.031	0.00254384659513	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1361587894	8.576e-06	8.209e-06	9.872e-06	7.245e-06	0.0004	4.57e-06	3.61e-06	6.161e-05	2.547e-05	0	0	0	0	0	0.0004	7.415e-06	3.448e-05	0	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.369	0.11770	T	0.436	0.13480	T	0.0	0.02946	B	0.002	0.06944	B	0.009968	0.30121	N	0.363254	0.987936	0.24465	N	0.255	0.09829	N	.	.	.	-0.8	0.22078	N	0.082	0.06454	-1.0009	0.29660	T	0.026	0.10954	T	9	0.03414184	0.01612	T	0.002544	0.05093	T	0.031	0.07369	0.159	0.06287	0.0138822411134	0.00435	0.23491023061993369	0.23406	.	.	0.350025773048	0.17926	T	0.002243	0.01642	T	-0.321412	0.06783	T	-0.699462	0.05855	T	0.124817088246346	0.14895	T	0.580242	0.20999	T	0.039112005	0.05340	0.027875572	0.00975	0.039112005	0.05340	0.027875572	0.00975	-3.363	0.16600	T	.	.	0.075	0.05404	B	.;.;.	.;.;.	1.120396	0.15063	11.56	0.71918593687072541	0.09793	0.09567	0.15294	N	AEFDBI	0.063142	0.12182	N	-1.0589602566276	0.07412	0.3442806	-0.886220703913584	0.12420	0.6387573	1.24536481625406E-5	0.02871	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	5.03	-0.772	0.10444	1.086000	0.30464	0.554000	0.19448	-0.274000	0.06627	1.000000	0.71638	0.028000	0.21151	0.931000	0.46843	0.5308:0.1758:0.2934:0.0	4.584	0.11669	657	0.62240	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1901.98	35	chr17	11557948	.	A	G	1901.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.653e+00;DP=875;ExcessHet=0.0000;FS=0.553;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=-7.670e-01;SOR=0.773	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1335	20	0	1	0
chr17	11558036	11558036	G	A	exonic	SHISA6	.	nonsynonymous SNV	SHISA6:NM_001173461:exon4:c.G1235A:p.R412Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.652	P	0.000	D	0.988	D	1.59	L	.	.	-0.698	T	0.147	T	0.361	5.155	32	5.72	2.705	4.151	18.457	0.120	.	0.0020	0.00359425	0.0010	0.0073	0.0027	0	0	0.0004	0	0	0.0002781	43	154602	rs114484608	0.0003	0.0003	0.0003	0.0003	0.0097	0.0003	0.0003	0.0088	0.0085	0.0097	0.0004	0	0	0	0.0002	3.337e-05	0.0008	5.049e-05	0.0029	0.0029	0.0030	0.0028	0.0102	0.0027	0.0026	0.0094	0.0091	0.0102	0	0.0006	0	0	0	0	2.94e-05	0.0024	0	0.004	0.65419	D	0.166	0.31326	T	0.981	0.73220	D	0.535	0.52532	P	0.000360	0.45440	D	0.183275	0.988169	0.40715	D	1.79	0.46772	L	.	.	.	-1.38	0.34198	N	0.336	0.45615	-0.6982	0.60524	T	0.147	0.47255	T	9	0.003870368	0.00073	T	.	.	.	0.120	0.33359	.	.	0.0806252709748	0.07271	0.3696071561786514	0.36874	.	.	0.496246039867	0.38304	T	0.015313	0.12869	T	-0.320627	0.06847	T	-0.22394	0.52357	T	0.0345947024509718	0.02739	T	0.954504	0.82682	D	0.17949188	0.39023	0.15392211	0.36147	0.17949188	0.39023	0.15392211	0.36146	-4.532	0.32670	T	.	.	0.105	0.21653	B	.;.;.	.;.;.	5.236521	0.87907	29.4	0.99928129543709454	0.99222	0.94824	0.62456	D	AEFDBI	0.705498	0.66086	D	0.557375807088578	0.70532	5.515398	0.5975573746373	0.74765	6.192872	0.759780541372212	0.23491	0.700653	0.57754	0	0.573888	0.26702	0	0.717052	0.78885	0	0.564101	0.26826	0	.	.	5.72	5.72	0.89380	6.269000	0.72536	8.592000	0.77691	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.909000	0.44452	0.0:0.0:1.0:0.0	18.457	0.90670	657	0.62240	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2375.98	35	chr17	11558036	.	G	A	2375.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.53;DP=921;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.27;ReadPosRankSum=-1.640e-01;SOR=0.731	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1335	20	0	1	0
chr17	11558120	11558120	G	A	exonic	SHISA6	.	nonsynonymous SNV	SHISA6:NM_001173461:exon4:c.G1319A:p.R440H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.94	T	0.116	B	0.011	B	0.000	D	0.535	N	0.27	N	.	.	-1.012	T	0.054	T	0.096	0.177	4.955	3.4	1.425	6.129	9.792	0.073	0.00308231130303	.	.	.	.	.	.	.	.	.	.	.	.	.	rs938069258	5.004e-06	4.788e-06	7.053e-06	2.898e-06	0.0004	2.08e-06	1.34e-06	6.161e-05	2.547e-05	0	0	0	0	0	0.0004	4.634e-06	0	0	6.569e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.939	0.04629	T	0.729	0.09795	T	0.116	0.26475	B	0.011	0.15521	B	0.000130	0.49741	D	0.158890	0.535187	0.31458	N	0.525	0.13617	N	.	.	.	-0.52	0.20358	N	0.104	0.08786	-1.0123	0.26196	T	0.054	0.22921	T	9	0.04048109	0.02620	T	0.003082	0.06666	T	0.073	0.21317	0.332	0.31843	0.0611884634855	0.05136	0.4014277891157765	0.40057	.	.	0.383614450693	0.22768	T	0.002214	0.01614	T	-0.260345	0.12860	T	-0.506458	0.21679	T	0.232525557279587	0.22071	T	0.949005	0.81197	D	0.0679768	0.14768	0.049403634	0.07543	0.0679768	0.14768	0.049403634	0.07542	-4.218	0.28051	T	.	.	0.157	0.34775	B	.;.;.	.;.;.	4.446652	0.69084	25.3	0.81834874427927295	0.13883	0.85633	0.44787	D	AEFDBI	0.155605	0.28082	N	-0.313629126650938	0.28629	1.580722	-0.0868065151208946	0.35934	2.084982	5.84743122524078E-5	0.04171	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	5.72	3.4	0.38031	6.198000	0.72031	8.552000	0.77532	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.2466:0.0:0.7534:0.0	9.792	0.39875	657	0.62240	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2038.98	35	chr17	11558120	.	G	A	2038.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.243;DP=963;ExcessHet=0.0000;FS=5.179;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.96;ReadPosRankSum=-1.990e-01;SOR=0.433	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1335	20	0	1	0
chr17	11617570	11617570	C	G	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon5:c.C1064G:p.P355R,	.	.	.	.	.	.	.	.	.	.	.	1555540	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.977	D	0.000	D	1.000	D	2.83	M	0.49	T	-0.145	T	0.419	T	0.835	4.793	27.0	5.91	2.802	7.666	19.893	0.547	0.0462906062731	.	0.000798722	0.0004	0	0	0	0	0	0	0.0026	0.000304	47	154602	rs373491778	0.0001	0.0001	6.398e-05	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	0	0	0	0	0	0	1.799e-06	4.967e-05	0.0023	5.912e-05	6.562e-05	5.14e-05	6.718e-05	0.0019	3.076e-05	2.209e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	0.006	0.61437	D	.	.	.	0.998	0.73220	D	0.977	0.73820	D	0.000134	0.49741	D	0.135690	1	0.81001	D	3.535	0.93119	H	0.49	0.55775	T	-6.04	0.90937	D	0.858	0.85449	-0.1453	0.79033	T	0.419	0.76482	T	10	0.1997667	0.35997	T	0.046291	0.62391	D	0.547	0.81193	0.738	0.87063	0.863037594452	0.86170	0.29343898617864617	0.29256	0.482320934166	0.47191	0.537154495716	0.44043	T	0.11449	0.43235	T	-0.0912911	0.37863	T	0.0911635	0.76324	D	0.637421488761902	0.37928	D	0.743726	0.36333	T	0.7672804	0.81885	0.6994507	0.82295	0.7672804	0.81886	0.6994507	0.82296	-3.279	0.13467	T	.	.	0.166	0.36653	B	.;.	.;.	4.337643	0.66520	25.0	0.99862667921498782	0.94093	0.97343	0.74151	D	AEFBCI	0.930083	0.91683	D	0.926545198419945	0.92999	11.758	0.889116323879491	0.95081	13.294	0.999999993979433	0.74766	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	5.91	5.91	0.95240	7.753000	0.84029	4.021000	0.41251	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.682000	0.33600	0.0:1.0:0.0:0.0	19.893	0.96937	698	0.58074	Dynein heavy chain, domain-1;Dynein heavy chain, domain-1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	656.98	38	chr17	11617570	.	C	G	656.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.640e-01;DP=800;ExcessHet=0.0000;FS=0.768;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.81;ReadPosRankSum=1.24;SOR=0.563	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1072	20	0	1	0
chr17	11636700	11636700	C	G	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon9:c.C1702G:p.L568V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.004	B	0.014	B	0.359	N	1.000	D	0.115	N	0.47	T	-1.089	T	0.076	T	0.185	0.137	4.738	3.42	0.645	0.534	6.536	0.081	0.00739906968523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292	0.14894	T	.	.	.	0.004	0.12183	B	0.014	0.16862	B	0.359117	0.13697	N	0.672061	0.999745	0.20516	N	1.535	0.38868	L	0.47	0.56114	T	-0.09	0.08340	N	0.187	0.20395	-1.0886	0.05770	T	0.076	0.30397	T	10	0.2372615	0.40824	T	0.007399	0.19630	T	0.081	0.23632	0.821	0.93395	0.444807159249	0.44105	0.11620045701656653	0.11548	0.0881976249193	0.09965	0.298568248749	0.10189	T	0.006251	0.05685	T	-0.20129	0.20618	T	-0.526916	0.19595	T	0.136977881193161	0.16012	T	0.632737	0.24712	T	0.113806054	0.26873	0.072571434	0.15673	0.113806054	0.26873	0.072571434	0.15672	-3.876	0.21943	T	.	.	0.068	0.02797	B	.;.	.;.	0.935825	0.13111	9.615	0.80351950028833286	0.13162	0.26373	0.22974	N	AEFDBI	0.103961	0.20815	N	-0.832576980995318	0.12483	0.6087483	-0.762854654976455	0.15408	0.8101475	3.66095514442984E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.7	3.42	0.38259	0.147000	0.16021	0.329000	0.17264	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.420000	0.27228	0.1672:0.72:0.0:0.1128	6.536	0.21552	788	0.46569	Dynein heavy chain, domain-1;Dynein heavy chain, domain-1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1743.98	34	chr17	11636700	.	C	G	1743.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.186e+00;DP=838;ExcessHet=0.0000;FS=0.651;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=0.256;SOR=0.784	GT:AD:DP:GQ:PL	0/1:58,75:133:99:1758,0,1452	20	0	1	0
chr17	11652926	11652926	A	G	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon14:c.A2519G:p.D840G,	.	.	423	1058	40	1	0	42	0.0194625	.	.	703955	DNAH9-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.13	T	0.009	B	0.013	B	0.002	N	1.000	D	1.545	L	1.74	T	-1.110	T	0.066	T	0.297	1.743	11.79	5.27	2.128	6.789	15.490	0.171	.	0.0007	0.00499201	0.0044	0	0.0009	0.0003	0	0.0016	0.0044	0.0250	0.0038745	599	154602	rs151174418	0.0024	0.0024	0.0017	0.0032	0.0253	0.0023	0.0023	0.0244	0.0240	0.0002	0.0009	0.0045	0.0001	7.491e-05	0.0107	0.0008	0.0029	0.0253	0.0016	0.0016	0.0011	0.0021	0.0220	0.0014	0.0014	0.0186	0.0174	0.0004	0	0.0007	0.0037	0.0008	0	0.0034	0.0013	0.0024	0.0220	0.126	0.30800	T	.	.	.	0.009	0.15093	B	0.013	0.16460	B	0.002019	0.37457	N	0.254991	0.998855	0.45564	D	2.595	0.75868	M	1.74	0.27032	T	-5.07	0.84525	D	0.22	0.25745	-1.1097	0.03096	T	0.066	0.27295	T	10	0.008436203	0.00191	T	.	.	.	0.171	0.43483	.	.	0.530211221528	0.52669	0.2892117330425478	0.28834	0.117963832202	0.13280	0.300941646099	0.10541	T	0.108742	0.42204	T	-0.477116	0.00769	T	-0.438523	0.28973	T	0.0659140126238598	0.08065	T	0.89681	0.63970	D	0.404369	0.61033	0.51796436	0.72150	0.40066916	0.60779	0.44214427	0.67475	-4.323	0.28498	T	.	.	0.076	0.05890	B	.;.	.;.	3.572971	0.50333	22.9	0.98423200686721557	0.41309	0.98241	0.80848	D	AEFI	0.840984	0.75822	D	-0.0545374639870098	0.39400	2.322869	0.0709501497038132	0.43096	2.618462	0.986046711633036	0.30994	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.27	5.27	0.73797	6.753000	0.74699	9.394000	0.80599	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.514000	0.29336	1.0:0.0:0.0:0.0	15.490	0.75330	793	0.45818	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1236.98	37	chr17	11652926	.	A	G	1236.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.642;DP=856;ExcessHet=0.0000;FS=0.723;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=1.32;SOR=0.828	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr17	11664948	11664948	A	C	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon15:c.A2711C:p.K904T,	.	.	417	1102	3	0	0	3	0.00135931	.	.	1436216	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.61	T	0.001	B	0.002	B	0.004	N	1.000	D	1.24	L	1.75	T	-1.091	T	0.046	T	0.555	1.001	9.086	4.48	0.950	4.255	11.188	0.137	0.0160767779393	.	.	0.0001	0	8.639e-05	0	0	0	0.0011	0.0010	0.0001229	19	154602	rs563643312	4.79e-05	4.788e-05	2.724e-05	6.878e-05	0.0008	3.861e-05	3.541e-05	0.0006	0.0006	0	0	0	0	0	0.0002	8.996e-07	4.969e-05	0.0008	6.57e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.633	0.05372	T	.	.	.	0.001	0.07471	B	0.002	0.06944	B	0.004390	0.33795	N	0.273464	0.854467	0.35278	D	2.325	0.66631	M	1.75	0.26737	T	-1.26	0.39692	N	0.637	0.65159	-1.0914	0.05303	T	0.046	0.19879	T	10	0.12796912	0.24340	T	0.016077	0.37157	T	0.137	0.36984	0.511	0.60846	0.408172294925	0.40431	0.4884469145763177	0.48764	0.104621109096	0.11836	0.513882637024	0.40766	T	0.023651	0.18014	T	-0.379645	0.03132	T	-0.386932	0.34911	T	0.118804813066266	0.14313	T	0.931307	0.74459	D	0.12338052	0.28972	0.098131746	0.23384	0.12338052	0.28971	0.098131746	0.23383	-3.084	0.11113	T	.	.	0.114	0.22789	B	.;.	.;.	3.255190	0.44492	21.9	0.93449685195642906	0.23231	0.95586	0.65314	D	AEFBI	0.731557	0.67859	D	-0.25298705191668	0.30985	1.732935	-0.0677723879419451	0.36731	2.141377	0.00100838574497673	0.08115	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.56	4.48	0.53973	4.184000	0.58121	8.056000	0.76378	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9283:0.0:0.0717:0.0	11.188	0.47896	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1229.98	35	chr17	11664948	.	A	C	1229.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.844e+00;DP=786;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.14;ReadPosRankSum=-7.800e-02;SOR=0.628	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr17	11669491	11669491	A	G	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon17:c.A3050G:p.Y1017C,	.	YES	419	1099	4	0	0	4	0.00181653	.	.	703956	not_provided|DNAH9-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	0.981	D	0.827	P	0.000	D	1.000	D	1.935	M	1.8	T	-1.099	T	0.044	T	0.738	1.939	12.44	3.7	0.817	3.285	11.007	0.286	.	0.0003	0.00599042	0.0056	0.0007	0.0555	0	0	0.0002	0.0011	0.0006	0.0052328	809	154602	rs139596704	0.0017	0.0017	0.0020	0.0015	0.0507	0.0017	0.0017	0.0489	0.0482	0.0003	0.0507	3.826e-05	0	0	0.0014	0.0001	0.0015	0.0006	0.0028	0.0029	0.0028	0.0029	0.0249	0.0026	0.0025	0.0228	0.0220	0.0006	0	0.0249	0	0	0	0	0.0003	0.0028	0.0006	0.0	0.91255	D	.	.	.	0.981	0.59675	D	0.827	0.59428	P	0.000050	0.53742	D	0.077308	0.999793	0.49177	D	2.93	0.84523	M	1.8	0.25996	T	-4.71	0.82700	D	0.531	0.56317	-1.0993	0.04177	T	0.044	0.18742	T	10	0.0051451027	0.00112	T	.	.	.	0.286	0.60456	.	.	0.734234264884	0.73186	0.6023714602692022	0.60168	0.397087255526	0.40806	0.481179028749	0.36219	T	0.123338	0.44763	T	-0.298047	0.08844	T	-0.161423	0.58224	T	0.0771547130699147	0.09619	T	0.973703	0.90499	D	0.6328966	0.74453	0.49605015	0.70857	0.5692652	0.71021	0.49605015	0.70857	-0.442	0.00549	T	.	.	0.184	0.39832	B	.;.	.;.	2.935804	0.39022	20.9	0.99454314351262907	0.65427	0.90844	0.52368	D	AEFBI	0.573575	0.57670	D	0.182505839674021	0.50359	3.226676	0.0560197701511414	0.42362	2.561061	0.752750981456619	0.23386	0.487112	0.14033	0	0.573888	0.26702	0	0.468601	0.07175	0	0.564101	0.26826	0	.	.	4.8	3.7	0.41607	3.333000	0.51806	5.120000	0.47580	0.756000	0.94297	0.994000	0.38300	1.000000	0.68203	0.014000	0.10232	0.8606:0.0:0.0:0.1394	11.007	0.46856	852	0.35056	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3269.98	33	chr17	11669491	.	A	G	3269.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.591;DP=962;ExcessHet=0.0000;FS=1.051;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.93;ReadPosRankSum=-1.155e+00;SOR=0.805	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1309	20	0	1	0
chr17	11690117	11690117	G	A	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon20:c.G4295A:p.G1432D,	.	.	417	1099	5	1	0	7	0.0031746	.	.	1610349	not_provided|DNAH9-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.48	T	0.023	B	0.169	B	0.041	N	1.000	D	1.825	L	0.19	T	-0.980	T	0.165	T	0.194	2.362	13.86	-0.284	0.365	2.290	9.524	0.115	0.00910412407893	0.0002	0.000998403	0.0006	0	0	0	0	0.0001	0	0.0038	0.0005045	78	154602	rs200329184	0.0003	0.0003	0.0002	0.0004	0.0029	0.0002	0.0002	0.0026	0.0025	2.987e-05	2.236e-05	0	0	3.744e-05	0.0012	0.0001	0.0002	0.0029	0.0002	0.0002	0.0001	0.0002	0.0029	0.0001	0.0001	0.0018	0.0014	0	0	0	0	0	0	0	0.0002	0	0.0029	0.08	0.33585	T	.	.	.	0.023	0.18885	B	0.169	0.35248	B	0.040798	0.24019	N	0.441952	0.990746	0.24130	N	1.56	0.39490	L	0.19	0.60236	T	-3.56	0.69950	D	0.332	0.37301	-0.9799	0.35025	T	0.165	0.50193	T	10	0.013894051	0.00293	T	0.009104	0.23941	T	0.115	0.32236	.	.	0.578164481777	0.57486	0.3210947763078606	0.32022	0.123906577991	0.13947	0.363995015621	0.19966	T	0.235957	0.60334	T	-0.478231	0.00758	T	-0.462144	0.26366	T	0.0771805126986451	0.09623	T	0.906909	0.67118	D	0.2114059	0.43464	0.24774717	0.50311	0.2114059	0.43464	0.24774717	0.50310	-9.799	0.72699	D	.	.	0.186	0.40131	B	.;.	.;.	2.304205	0.29484	18.14	0.9749250263275191	0.34251	0.93936	0.59622	D	AEFBI	0.386486	0.46683	N	-0.391941389838108	0.25754	1.400486	-0.341494779843728	0.26773	1.481009	3.44713132699852E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.84	-0.284	0.12233	2.353000	0.43744	0.233000	0.16214	0.676000	0.76740	0.997000	0.40164	0.002000	0.18203	0.994000	0.71098	0.1339:0.3239:0.5422:0.0	9.524	0.38320	883	0.28872	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2034.98	34	chr17	11690117	.	G	A	2034.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.15;DP=857;ExcessHet=0.0000;FS=2.928;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=-3.510e-01;SOR=0.949	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,111,1475	20	0	1	0
chr17	11769290	11769290	G	A	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon38:c.G7513A:p.V2505M,	.	.	.	.	.	.	.	.	.	.	.	1881216	not_provided|Ciliary_dyskinesia,_primary,_40	MedGen:CN517202|MONDO:MONDO:0032664,MedGen:C4749028,OMIM:618300	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.983	D	0.000	D	1.000	D	1.885	L	0.76	T	-0.585	T	0.256	T	0.585	4.219	21.9	4.42	2.696	6.624	15.044	0.258	0.0218419782163	.	.	.	.	.	.	.	.	.	.	.	.	.	rs61744697	2.532e-05	2.668e-05	2.587e-05	2.476e-05	3.058e-05	1.868e-05	1.631e-05	2.201e-05	1.942e-05	0	2.238e-05	0	0	0	0	3.058e-05	3.312e-05	0	1.973e-05	1.97e-05	1.285e-05	2.693e-05	4.413e-05	5.25e-06	2.46e-06	1.172e-05	6.25e-06	0	0	0	0	0	0	0	4.413e-05	0	0	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.983	0.75793	D	0.000045	0.53742	D	0.072443	0.999383	0.46865	D	2.25	0.63811	M	0.76	0.49919	T	-2.67	0.57599	D	0.769	0.76666	-0.5845	0.65439	T	0.256	0.62654	T	10	0.7352324	0.74574	D	0.021842	0.44662	T	0.258	0.56959	.	.	0.774474433012	0.77239	0.3179891463867298	0.31711	0.347852433776	0.36664	0.746689200401	0.73958	T	0.075061	0.35088	T	-0.0657462	0.42004	T	-0.249351	0.49880	T	0.984724402427673	0.75940	D	0.962504	0.85970	D	0.5966305	0.72510	0.6325674	0.78560	0.5966305	0.72511	0.6325674	0.78561	-8.182	0.62303	D	.	.	0.431	0.61224	A	.;.	.;.	4.649747	0.74108	26.1	0.99897938953681575	0.97048	0.98265	0.81073	D	AEFBI	0.792719	0.72093	D	0.755908847488631	0.83290	7.978672	0.73215705160511	0.84821	8.399915	0.028323419212433	0.13824	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.41	4.42	0.52775	6.844000	0.75184	5.773000	0.49755	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.905000	0.44082	0.0722:0.0:0.9278:0.0	15.044	0.71475	837	0.37933	AAA+ ATPase domain;AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	8001.18	33	chr17	11769290	.	G	A,T	8001.18	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=1.81;DP=1102;ExcessHet=0.0082;FS=1.185;InbreedingCoeff=0.4474;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=17.43;ReadPosRankSum=0.478;SOR=0.568	GT:AD:DP:GQ:PL	0/0:35,0,0:35:99:0,99,1419,99,1419,1419	18	0	0	0
chr17	11781087	11781087	T	C	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon39:c.T7631C:p.I2544T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.704	P	0.734	P	0.000	D	1.000	D	3.855	H	0.59	T	0.104	D	0.436	T	0.892	4.289	22.4	5.08	2.043	7.961	15.136	0.631	0.0428854227346	.	.	8.352e-06	0	0	0	0	0	0	6.138e-05	6.5e-06	1	154602	rs779447925	6.225e-05	6.225e-05	6.942e-05	5.5e-05	0.0002	5.161e-05	4.78e-05	5.51e-05	5.025e-05	0	8.944e-05	0	0	0	0.0002	6.745e-05	0.0001	2.319e-05	3.942e-05	3.94e-05	5.138e-05	2.689e-05	0.0002	1.715e-05	1.129e-05	1.972e-05	1.124e-05	2.412e-05	0	0	0	0.0002	0	0	5.879e-05	0	0	0.001	0.78490	D	.	.	.	0.704	0.41950	P	0.734	0.55432	P	0.000231	0.47286	D	0.132915	0.997334	0.43805	D	4.08	0.97210	H	0.59	0.53943	T	-4.43	0.78388	D	0.928	0.93723	0.104	0.84249	D	0.436	0.77587	T	10	0.9042655	0.89790	D	0.042885	0.60697	D	0.631	0.85821	.	.	0.897428870944	0.89641	0.8206603414836466	0.82023	0.282013640996	0.30668	0.693015933037	0.66139	T	0.296755	0.66938	T	0.156413	0.69867	D	0.183872	0.82219	D	0.979246199131012	0.72732	D	0.983602	0.94423	D	0.89359057	0.90817	0.84077895	0.90890	0.89359057	0.90818	0.84077895	0.90890	-11.88	0.84261	D	.	.	0.568	0.67560	P	.;.	.;.	4.775397	0.77344	26.7	0.99848911863881362	0.92838	0.97229	0.73454	D	AEFBI	0.921272	0.89450	D	0.787708207357552	0.85331	8.544076	0.737012801544465	0.85184	8.505332	0.999965406376401	0.48965	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	8.001000	0.88013	7.803000	0.69204	0.640000	0.52149	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.136	0.72244	878	0.29785	AAA+ ATPase domain;AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1531.98	35	chr17	11781087	.	T	C	1531.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.800e-02;DP=824;ExcessHet=0.0000;FS=2.362;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=0.277;SOR=0.564	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,111,1391	20	0	1	0
chr17	11854426	11854426	G	A	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon50:c.G9931A:p.A3311T,	.	.	421	1093	8	0	0	8	0.00364631	0	0.036	2231942	not_provided|Inborn_genetic_diseases|DNAH9-related_disorder	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.47	T	0.017	B	0.022	B	0.341	N	1.000	N	1.99	M	-1.35	T	-0.825	T	0.321	T	0.116	1.625	11.39	-6.77	-1.149	0.289	10.787	0.199	0.0165919456704	0.0002	0.00119808	0.0009	9.897e-05	0.0010	0	0	0.0002	0.0012	0.0057	0.0007438	115	154602	rs139176958	0.0005	0.0005	0.0003	0.0007	0.0053	0.0005	0.0004	0.0049	0.0047	2.996e-05	0.0007	3.873e-05	0	1.876e-05	0.0038	0.0002	0.0005	0.0053	0.0004	0.0004	0.0003	0.0004	0.0054	0.0003	0.0003	0.0038	0.0032	2.408e-05	0	0.0002	0	0.0002	9.457e-05	0.0034	0.0003	0.0009	0.0054	0.426	0.12109	T	0.437	0.13441	T	0.017	0.17573	B	0.022	0.19653	B	0.340874	0.13965	N	0.710500	1	0.08975	N	1.38	0.34346	L	-1.35	0.80035	T	-1.94	0.45042	N	0.144	0.14622	-0.8245	0.53651	T	0.321	0.68969	T	10	0.0053035915	0.00116	T	0.016592	0.37919	T	0.199	0.48268	.	.	0.311691414656	0.30774	0.06991057062677458	0.06929	0.0872234964637	0.09831	0.215966016054	0.01090	T	0.196887	0.67158	T	-0.487925	0.00667	T	-0.472142	0.25286	T	0.0122225140822567	0.00197	T	0.80032	0.44603	T	0.042935245	0.06603	0.07626091	0.16872	0.043369338	0.06745	0.08129773	0.18463	-6.04	0.46613	T	.	.	0.068	0.02639	B	.;.;.	.;.;.	0.320326	0.06949	3.496	0.91704226793336741	0.20998	0.09032	0.14867	N	AEFBI	0.121297	0.23589	N	-1.18035635800702	0.05297	0.2411523	-1.26361198420955	0.04932	0.2338548	2.73436185864375E-4	0.06300	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.44	-6.77	0.01565	0.422000	0.21016	-4.487000	0.02131	-0.116000	0.14526	0.000000	0.06391	0.000000	0.08366	0.936000	0.47498	0.1887:0.0:0.7208:0.0904	10.787	0.45612	692	0.58729	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1016.98	41	chr17	11854426	.	G	A	1016.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.67;ReadPosRankSum=0.305;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,102,1530	20	0	1	0
chr17	11854427	11854427	C	A	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon50:c.C9932A:p.A3311D,	.	YES	419	1095	8	0	0	8	0.00363967	0.0156	0.184	2222908	Inborn_genetic_diseases|DNAH9-related_disorder	MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.54	T	0.421	B	0.493	P	0.341	N	0.537	D	2.115	M	-1.4	T	-0.054	T	0.523	D	0.273	2.425	14.07	4.48	1.529	2.152	14.183	0.280	0.0526994242547	0.0002	0.000998403	0.0009	9.929e-05	0.0009	0	0	0.0002	0.0012	0.0057	0.0007309	113	154602	rs149935831	0.0005	0.0005	0.0003	0.0007	0.0053	0.0005	0.0004	0.0049	0.0047	2.995e-05	0.0005	3.878e-05	0	1.877e-05	0.0038	0.0002	0.0005	0.0053	0.0004	0.0004	0.0003	0.0004	0.0054	0.0003	0.0003	0.0038	0.0032	2.406e-05	0	0.0001	0	0.0002	9.422e-05	0.0034	0.0003	0.0009	0.0054	0.33	0.16903	T	0.084	0.41239	T	0.421	0.35387	B	0.493	0.47443	P	0.340874	0.13965	N	0.710500	1	0.08975	N	1.605	0.40863	L	-1.4	0.80474	T	-3.43	0.67359	D	0.418	0.45898	-0.0538	0.81126	T	0.523	0.82235	D	10	0.007364273	0.00167	T	0.052699	0.65173	D	0.280	0.59740	.	.	0.827812717529	0.82617	0.33970851897950133	0.33883	0.312824787372	0.33584	0.24742603302	0.03501	T	0.32141	0.82969	T	-0.375914	0.03305	T	-0.311384	0.43509	T	0.0949806294149308	0.11796	T	0.905909	0.66829	D	0.413711	0.61670	0.4236696	0.66230	0.43074062	0.62801	0.4441394	0.67606	-6.907	0.53351	T	.	.	0.149	0.36174	B	.;.;.	.;.;.	2.772828	0.36401	20.2	0.99334938761527458	0.59934	0.20219	0.20959	N	AEFBI	0.211628	0.33740	N	-0.204445868062762	0.32951	1.864017	-0.242335257653652	0.30036	1.687775	5.37750915066184E-4	0.07248	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.44	4.48	0.53973	2.357000	0.43779	3.898000	0.40333	0.599000	0.40250	0.007000	0.17678	0.219000	0.23700	0.943000	0.48514	0.0:0.9286:0.0:0.0713	14.183	0.65125	692	0.58729	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1016.98	41	chr17	11854427	.	C	A	1016.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.630e-01;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.67;ReadPosRankSum=0.164;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,102,1530	20	0	1	0
chr17	11937502	11937502	G	T	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_004662:exon12:c.G1576T:p.G526C	.	.	419	1079	23	1	0	25	0.0114521	.	.	1587214	not_provided|DNAH9-related_disorder|Ciliary_dyskinesia,_primary,_40	MedGen:C3661900|.|MONDO:MONDO:0032664,MedGen:C4749028,OMIM:618300	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.974	D	0.928	D	0.005	N	1.000	N	4.465	H	2.92	T	-0.700	T	0.155	T	0.349	3.275	16.99	3.9	1.411	6.408	13.420	0.261	0.0493137105476	0.0021	0.00179712	0.0024	0.0005	0.0013	0	0	0.0020	0	0.0083	0.0023027	356	154602	rs144547132	0.0030	0.0030	0.0027	0.0032	0.0114	0.0029	0.0028	0.0092	0.0084	0.0004	0.0013	0.0051	0	1.873e-05	0.0114	0.0029	0.0036	0.0073	0.0020	0.0020	0.0018	0.0021	0.0056	0.0018	0.0017	0.0040	0.0034	0.0007	0	0.0037	0.0040	0	9.42e-05	0.0068	0.0024	0.0052	0.0056	0.002	0.72154	D	0.004	0.74150	D	0.974	0.57829	D	0.928	0.66279	D	0.005051	0.33144	N	0.339387	0.999994	0.08975	N	4.065	0.97128	H	2.92	0.09915	T	-6.01	0.90294	D	0.423	0.52740	-0.6995	0.60462	T	0.155	0.48636	T	10	0.008069009	0.00183	T	0.049314	0.63758	D	0.261	0.57352	.	.	0.650291552413	0.64738	0.514094447207679	0.51332	0.474755460642	0.46659	0.38987326622	0.23652	T	0.241888	0.61051	T	-0.444042	0.01224	T	-0.406607	0.32617	T	0.080413546205679	0.10040	T	0.839916	0.51465	T	0.73322076	0.79906	0.60312414	0.76936	0.745528	0.80611	0.58592963	0.75987	-11.073	0.80057	D	.	.	0.188	0.41783	B	.;.;.	.;.;.	3.387178	0.46878	22.4	0.98877539749797216	0.47754	0.95261	0.64038	D	AEFBI	0.746746	0.68902	D	0.555324367897323	0.70405	5.496964	0.309500935692871	0.56098	3.772689	0.0107041285811074	0.12068	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	4.87	3.9	0.44240	5.486000	0.66578	3.807000	0.39893	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.020000	0.11549	0.0759:0.0:0.9241:0.0	13.420	0.60438	635	0.64580	Dynein heavy chain domain;Dynein heavy chain domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1681.98	37	chr17	11937502	.	G	T	1681.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.237;DP=894;ExcessHet=0.0000;FS=6.973;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=0.960;SOR=0.314	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr17	12990085	12990085	C	T	exonic	ARHGAP44	.	nonsynonymous SNV	ARHGAP44:NM_001321166:exon20:c.C2353T:p.R785C	.	.	424	1083	15	0	0	15	0.00687758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.978	D	0.353	B	0.002	N	1.000	D	0	N	2.24	T	-1.085	T	0.024	T	0.393	3.377	17.39	5.73	2.701	3.925	12.344	0.102	0.0278971398683	.	0.00139776	0.0013	0.0001	8.678e-05	0	0	0	0.0034	0.0089	0.0010737	166	154602	rs373321971	0.0006	0.0006	0.0003	0.0009	0.0093	0.0006	0.0006	0.0088	0.0086	2.988e-05	2.236e-05	0	2.537e-05	0	0.0019	2.79e-05	0.0005	0.0093	0.0003	0.0003	0.0001	0.0004	0.0073	0.0002	0.0002	0.0054	0.0047	7.218e-05	0	0	0	0	0	0	2.94e-05	0	0.0073	0.002	0.72154	D	0.054	0.47097	T	0.978	0.58756	D	0.353	0.42910	B	0.001524	0.38731	N	0.174839	0.997547	0.81001	D	1.39	0.34934	L	2.24	0.17923	T	-1.69	0.40274	N	0.285	0.33904	-1.0855	0.06316	T	0.024	0.10374	T	10	0.0062056184	0.00140	T	0.027897	0.50651	D	0.102	0.29158	0.258	0.20002	0.082315109003	0.07666	0.23863675517191169	0.23777	0.348927015905	0.36754	0.406373888254	0.25955	T	0.032893	0.22682	T	-0.443578	0.01232	T	-0.403407	0.32988	T	0.0893905220065975	0.11145	T	0.835916	0.50694	T	0.1282618	0.29991	0.066219054	0.13534	0.1282618	0.29991	0.066219054	0.13534	-4.23	0.27484	T	.	.	0.072	0.14385	B	.;.	.;.	4.228033	0.63999	24.6	0.9986507322271504	0.94366	0.83385	0.42506	D	AEFDBHCI	0.607972	0.59773	D	0.301683228877574	0.56234	3.787913	0.416338083985265	0.62583	4.476105	0.999989882946165	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	5.73	5.73	0.89730	3.199000	0.50745	4.880000	0.45656	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.660000	0.32968	0.1687:0.8313:0.0:0.0	12.344	0.54433	945	0.12563	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2441.98	35	chr17	12990085	.	C	T	2441.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.790e-01;DP=941;ExcessHet=0.0000;FS=2.274;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.85;ReadPosRankSum=-5.030e-01;SOR=0.880	GT:AD:DP:GQ:PL	0/1:117,108:225:99:2456,0,2803	20	0	1	0
chr17	14207082	14207082	G	A	exonic	COX10	.	nonsynonymous SNV	COX10:NM_001303:exon7:c.G1201A:p.V401M,	Leigh syndrome due to mitochondrial COX4 deficiency, Autosomal recessive, Mitochondrial;Mitochondrial complex IV deficiency, Autosomal recessive, Mitochondrial	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.73	P	0.154	B	0.291	N	0.999	N	0.55	N	-3.06	D	-0.356	T	0.482	T	0.106	2.153	13.16	-4.52	-0.533	-0.150	5.854	0.195	0.0418566088704	7.7e-05	.	1.654e-05	9.664e-05	0	0	0	1.507e-05	0	0	1.29e-05	2	154602	rs372982577	1.437e-05	1.505e-05	9.53e-06	1.925e-05	0.0002	9.23e-06	7.84e-06	1.093e-05	8.81e-06	0	0	0	0	0	0.0002	1.709e-05	0	1.159e-05	3.285e-05	3.283e-05	5.138e-05	1.345e-05	7.236e-05	1.261e-05	7.98e-06	1.919e-05	1.032e-05	7.236e-05	0	6.543e-05	0	0	0	0	0	0.0005	0	0.119	0.28026	T	0.023	0.57104	D	0.094	0.25382	B	0.008	0.13708	B	0.290888	0.03894	N	1.468930	0.999984	0.18878	N	-0.125	0.04555	N	-3.06	0.92457	D	1.16	0.01136	N	0.05	0.02179	-0.3560	0.73380	T	0.482	0.80205	T	10	0.05300647	0.05424	T	0.041857	0.60153	D	0.195	0.47612	.	.	0.322284741503	0.31843	0.4938141890294266	0.49302	0.262480154688	0.28810	0.266569375992	0.05698	T	0.325349	0.69607	T	-0.218549	0.18190	T	-0.370179	0.36869	T	0.0903848307184259	0.11263	T	0.527447	0.17405	T	0.029385326	0.02424	0.050219346	0.07836	0.029385326	0.02424	0.050219346	0.07835	-2.627	0.06711	T	0.11080120999038127	0.09404	0.082	0.08754	B	.	.	0.650335	0.10185	6.928	0.97947658184886066	0.37078	0.07064	0.13090	N	AEFDBCI	0.040990	0.06172	N	-0.879075934411398	0.11342	0.5468065	-0.947359535377273	0.10984	0.5568083	0.165247786311232	0.17654	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.79	-4.52	0.03227	-0.141000	0.10308	-2.693000	0.03460	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.772000	0.36596	0.4128:0.3906:0.1966:0.0	5.854	0.17957	941	0.13089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2588.98	47	chr17	14207082	.	G	A	2588.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.430e-01;DP=1014;ExcessHet=0.0000;FS=1.003;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.92;ReadPosRankSum=-1.368e+00;SOR=0.788	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1328	20	0	1	0
chr17	14235978	14235978	T	C	exonic	CDRT15	.	nonsynonymous SNV	CDRT15:NM_001007530:exon3:c.A445G:p.R149G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.597	P	0.291	B	.	.	1.000	N	-0.46	N	0.43	T	-1.032	T	0.056	T	0.159	-1.107	0.136	.	0.103	0.126	.	0.150	0.00393932043513	.	.	0.0004	0.0004	0.0032	0.0001	0	0.0002	0	0	3.84e-05	1	26028	rs772338692	6.604e-05	0.0011	7.25e-05	5.949e-05	0.0009	5.525e-05	5.135e-05	0.0007	0.0006	0.0003	0.0009	0	0.0001	3.763e-05	0	2.796e-05	3.33e-05	7.063e-05	0.0020	0.0092	0.0019	0.0020	0.0071	0.0018	0.0017	0.0060	0.0056	0.0032	0	0.0071	0	0.0014	0	0	0.0006	0.0005	0.0019	0.578	0.18691	T	0.581	0.11691	T	0.597	0.39250	P	0.291	0.40706	B	.	.	.	.	1	0.08975	N	-0.11	0.04642	N	0.43	0.56772	T	-1.27	0.31981	N	0.163	0.22998	-1.0320	0.19809	T	0.056	0.23639	T	7	0.014778286	0.00310	T	0.003939	0.09305	T	0.150	0.39571	.	.	0.227934060464	0.22382	0.04312403573495309	0.04257	1.1695270968	0.79722	0.476071715355	0.35517	T	0.004688	0.04103	T	-0.202032	0.20510	T	-0.527981	0.19489	T	0.0282380256716595	0.01724	T	0.422258	0.11242	T	0.087589234	0.20401	0.18627797	0.41790	0.087589234	0.20401	0.18627797	0.41790	-4.436	0.30042	T	.	.	0.106	0.19679	B	.;.	.;.	0.697565	0.10662	7.361	0.29491214305231078	0.01567	0.00189	0.01098	N	AEFDI	0.041987	0.06457	N	-1.16329166398145	0.05565	0.2540033	-1.29488751292351	0.04499	0.2123624	1.09839826763181E-6	0.01202	0.562547	0.31514	0	0.653731	0.59785	0	0.536957	0.11973	0	0.567892	0.33627	0	.	.	.	.	.	0.194000	0.16941	-3.402000	0.02814	0.168000	0.17747	0.032000	0.20554	0.000000	0.08366	0.049000	0.15107	.	.	.	968	0.07033	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	187.98	49	chr17	14235978	.	T	C	187.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=806;ExcessHet=0.0000;FS=11.440;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=45.79;MQRankSum=-3.844e+00;QD=2.72;ReadPosRankSum=0.470;SOR=1.681	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,112,1331	20	0	1	0
chr17	15503057	15503057	A	G	exonic	TVP23C	.	nonsynonymous SNV	TVP23C:NM_145301:exon6:c.T638C:p.L213P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.868	P	0.227	B	.	.	1.000	N	2.425	M	1.57	T	-1.027	T	0.075	T	0.392	1.147	9.670	-0.251	0.010	-0.517	8.714	0.131	0.00489923750304	.	.	8.284e-06	0	0	0	0	1.505e-05	0	0	1.29e-05	2	154602	rs200444190	6.02e-05	6.02e-05	6.398e-05	5.638e-05	7.554e-05	4.961e-05	4.626e-05	6.234e-05	5.738e-05	2.988e-05	0	0	0	0	0	7.554e-05	4.967e-05	0	3.288e-05	3.284e-05	2.571e-05	4.038e-05	7.35e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0	0	0.002	0.72154	D	0.011	0.64786	D	0.868	0.47740	P	0.227	0.38084	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.57	0.29342	T	-0.78	0.21644	N	0.286	0.32370	-1.0268	0.21494	T	0.075	0.30148	T	9	0.106948525	0.19842	T	0.004899	0.12318	T	0.131	0.35738	0.431	0.48007	0.110078149338	0.10416	0.27202214944199904	0.27115	0.145674769398	0.16452	0.331975221634	0.15233	T	0.004192	0.03601	T	-0.201276	0.20621	T	-0.511409	0.21170	T	0.0963910181219348	0.11955	T	0.20328	0.02343	T	0.25312108	0.48332	0.17246287	0.39503	0.25312108	0.48332	0.17246287	0.39502	-3.673	0.18920	T	.	.	0.068	0.02829	B	.	.	0.964165	0.13410	9.915	0.83572795987996318	0.14800	0.01320	0.04563	N	ALL	0.070316	0.13953	N	-0.774560922984775	0.13975	0.6924918	-0.994046307004181	0.09918	0.4963113	0.999999999880103	0.74766	0.516213	0.21343	1	0.378119	0.05977	1	0.651303	0.49530	0	0.654926	0.60358	0	.	.	3.23	-0.251	0.12361	-0.513000	0.06389	-1.017000	0.06593	0.562000	0.28470	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.6317:0.3683:0.0:0.0	8.714	0.33562	862	0.33134	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	982.98	84	chr17	15503057	.	A	G	982.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.211e+00;DP=903;ExcessHet=0.0000;FS=2.914;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=1.18;SOR=1.052	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1229	20	0	1	0
chr17	15553707	15553707	G	A	exonic	TVP23C;TVP23C-CDRT4	.	nonsynonymous SNV	TVP23C:NM_001135036:exon3:c.C218T:p.S73L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.999	D	0.000	D	1.000	D	2.68	M	0.81	T	-0.333	T	0.323	T	0.875	4.712	26.2	4.27	2.095	9.720	15.812	0.533	0.10793370349	0.0003	.	0.0002	0	0	0.0001	0	0.0004	0	0	0.000194	30	154602	rs199907331	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	0.0002	0.0002	5.987e-05	9.05e-05	0	0.0002	0	0	0.0002	0.0002	0	0.0001	0.0001	0.0001	0.0001	0.0003	9.186e-05	7.736e-05	0.0002	0.0002	0	0	6.574e-05	0	0	0	0	0.0003	0	0	0.001	0.78490	D	0.002	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.775	0.80997	M	0.81	0.48460	T	-5.31	0.84457	D	0.922	0.92784	-0.3326	0.74058	T	0.323	0.69212	T	10	0.7645697	0.76603	D	0.107934	0.78424	D	0.533	0.80367	.	.	0.732589864995	0.73020	0.6137054898476767	0.64283	0.45497841777	0.54028	0.848769307137	0.89428	D	0.279	0.65156	T	0.0497754	0.58315	T	0.144241	0.79819	D	0.766560733318329	0.44234	D	0.993101	0.98279	D	0.91470146	0.92737	0.90033585	0.95000	0.91470146	0.92738	0.90033585	0.95000	-13.164	0.90027	D	.	.	0.369	0.59313	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.545797	0.92007	32	0.99930853286762888	0.99334	0.98541	0.83887	D	AEFDI	0.918216	0.88694	D	0.827369944914062	0.87786	9.33974	0.753809089349901	0.86442	8.890344	0.999899527541661	0.45129	0.706548	0.73137	0	0.659464	0.62310	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.27	4.27	0.50009	9.908000	0.98660	11.775000	0.95959	0.649000	0.52879	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:0.0:1.0:0.0	15.812	0.78351	768	0.49510	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1416.98	33	chr17	15553707	.	G	A	1416.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.33;DP=832;ExcessHet=0.0000;FS=0.725;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.85;MQRankSum=0.809;QD=10.34;ReadPosRankSum=-1.480e-01;SOR=0.786	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1407	20	0	1	0
chr17	15605266	15605266	C	T	exonic	CDRT1	.	nonsynonymous SNV	CDRT1:NM_001282540:exon7:c.G1390A:p.E464K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.775	P	0.306	B	0.991	N	1.000	D	0.39	N	2.25	T	-0.951	T	0.023	T	0.374	1.671	11.55	-0.242	0.157	0.555	5.302	0.111	0.0076998040079	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1346285155	1.808e-05	1.779e-05	2.21e-05	1.4e-05	2.173e-05	1.258e-05	1.069e-05	1.47e-05	1.235e-05	0	0	0	0	0	0	2.173e-05	3.37e-05	0	6.593e-06	6.568e-06	1.289e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.236	0.17940	T	0.365	0.28669	T	0.775	0.44108	P	0.306	0.41250	B	0.991332	0.08028	N	0.994614	0.943268	0.37403	D	1.29	0.32370	L	2.25	0.17761	T	-1.57	0.37955	N	0.185	0.27673	-0.9512	0.40765	T	0.023	0.09696	T	10	0.08662802	0.14744	T	0.008	0.20431	T	0.111	0.31313	0.566	0.68768	0.0297737177859	0.01360	0.32070747973461455	0.31983	.	.	0.415393352509	0.27201	T	0.002392	0.01788	T	-0.145955	0.28945	T	-0.44743	0.27981	T	0.661659002304077	0.38969	D	0.80142	0.44736	T	0.08320257	0.19204	0.17038177	0.39143	0.08320257	0.19204	0.17038177	0.39142	-6.806	0.52603	T	.	.	0.077	0.34250	B	.;.;.	.;.;.	1.784634	0.22686	15.72	0.99050810785070598	0.51253	0.46589	0.27793	N	AEFGI	0.075513	0.15165	N	-0.501115928739877	0.22044	1.174317	-0.445231833994344	0.23684	1.292904	4.70215296348651E-6	0.01202	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.68	-0.242	0.12396	0.589000	0.23640	0.020000	0.13575	0.539000	0.25131	0.995000	0.38783	0.002000	0.18203	0.958000	0.51230	0.0:0.4428:0.1461:0.4111	5.302	0.15095	782	0.47442	WD40-repeat-containing domain;WD40-repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1380.98	43	chr17	15605266	.	C	T	1380.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.82;DP=752;ExcessHet=0.0000;FS=1.597;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=39.54;MQRankSum=-3.190e-01;QD=13.67;ReadPosRankSum=-8.090e-01;SOR=0.820	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1348	20	0	1	0
chr17	15636073	15636073	C	G	exonic	TRIM16	.	nonsynonymous SNV	TRIM16:NM_001348121:exon5:c.G422C:p.R141T	.	.	421	1096	5	0	0	5	0.00227583	.	.	2814976	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.689	P	0.242	B	0.000	U	0.997	N	1.78	L	-0.01	T	-0.880	T	0.191	T	0.296	-0.001	4.007	0.777	0.115	0.200	5.914	0.040	.	.	.	0.0108	0.0018	0.0080	0.0391	0.0062	0.0072	0.0045	0.0219	0.0111124	1718	154602	rs142902437	0.0003	0.0026	0.0003	0.0003	0.0020	0.0003	0.0003	0.0017	0.0015	0.0003	0.0002	0.0002	0.0020	0.0007	0	0.0002	0.0003	0.0011	0.0017	0.0055	0.0018	0.0016	0.0072	0.0015	0.0014	0.0052	0.0046	0.0007	0	0.0014	0.0006	0.0072	0.0012	0	0.0019	0.0010	0.0045	0.068	0.35726	T	0.022	0.57587	D	0.007	0.14184	B	0.011	0.15521	B	0.000075	0.52346	U	0.127194	0.996586	0.22968	N	2.19	0.61577	M	0.31	0.66834	T	-2.74	0.58248	D	0.093	0.34336	-0.8797	0.49786	T	0.191	0.54345	T	10	0.0040765405	0.00080	T	.	.	.	0.054	0.15330	.	.	.	.	0.335178000122452	0.33430	0.40539797669	0.41440	0.333759605885	0.15501	T	0.075344	0.35154	T	-0.352267	0.04586	T	-0.380751	0.35634	T	0.0196647825029475	0.00669	T	0.568143	0.20320	T	0.09388597	0.22060	0.08176437	0.18607	0.09388597	0.22060	0.08176437	0.18607	-4.312	0.28344	T	.	.	0.327	0.55039	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	0.885814	0.12589	9.119	0.293871150753654	0.01556	0.11249	0.16508	N	AEFGBHI	0.122829	0.23815	N	-0.861289901193496	0.11774	0.5700241	-0.948779146322556	0.10951	0.554927	0.0665572100857383	0.15397	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.97	0.777	0.17682	0.263000	0.18247	0.692000	0.20773	-1.689000	0.00774	0.123000	0.23227	0.163000	0.23278	0.028000	0.12845	0.0:0.6544:0.1581:0.1875	5.914	0.18285	809	0.43032	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	503.11	115	chr17	15636073	.	C	G	503.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.762;DP=1081;ExcessHet=0.1072;FS=37.288;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=56.76;MQRankSum=-9.215e+00;QD=2.17;ReadPosRankSum=-9.320e-01;SOR=2.326	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485	19	0	2	0
chr17	15651512	15651532	TCTGGGCTGGGTGACCCAGAG	-	exonic	TRIM16	.	nonframeshift deletion	TRIM16:NM_006470:exon4:c.78_98del:p.P30_S36del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.678e-05	0.0002	0	0	0	0	0	0	3.84e-05	1	26028	rs762333020	3.423e-06	3.42e-06	2.724e-06	4.129e-06	2.989e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.989e-05	0	0	0	0	0	2.699e-06	0	1.161e-05	4.6e-05	4.597e-05	3.855e-05	5.38e-05	0.0002	2.109e-05	1.527e-05	7.892e-05	5.588e-05	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	948.94	41	chr17	15651511	.	ATCTGGGCTGGGTGACCCAGAG	A	948.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.23;DP=850;ExcessHet=0.0000;FS=0.986;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=0.424;SOR=0.867	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1385	20	0	1	0
chr17	15716803	15716803	A	C	exonic	ZNF286A	.	nonsynonymous SNV	ZNF286A:NM_001288644:exon4:c.A743C:p.D248A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.998	D	0.013	N	1.000	D	1.25	L	5.42	T	-0.834	T	0.007	T	0.443	2.812	15.36	3.04	1.854	1.900	4.77	0.188	0.00931694907148	.	.	2.486e-05	0	0	0.0001	0	0	0.0011	6.078e-05	3.84e-05	1	26028	rs757558470	1.232e-05	1.231e-05	8.169e-06	1.65e-05	0.0005	7.7e-06	6.35e-06	0.0001	7.55e-05	0	0	0	0.0001	0	0.0005	3.598e-06	4.969e-05	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.006	0.70582	D	0.999	0.77913	D	0.998	0.88582	D	0.013307	0.28882	N	0.163918	0.786016	0.81001	D	2.12	0.58754	M	5.42	0.00999	T	-1.61	0.38734	N	0.216	0.25745	-0.8336	0.53068	T	0.007	0.02439	T	10	0.22449839	0.39255	T	0.009317	0.24459	T	0.188	0.46444	0.614	0.74768	0.427596317008	0.42374	0.32010885286649454	0.31923	2.5138884224	0.97710	0.670432925224	0.62899	T	0.01989	0.15761	T	-0.233107	0.16240	T	-0.40349	0.32978	T	0.761949956417084	0.43963	D	0.0449955	0.00318	T	0.12616219	0.29558	0.14115086	0.33622	0.12616219	0.29558	0.14115086	0.33621	-4.132	0.28079	T	.	.	0.191	0.40952	B	.;.;.;.	.;.;.;.	4.957676	0.81941	27.7	0.99478338544704203	0.66741	0.00188	0.01093	N	AEFGBHCI	.	.	.	0.398378472880898	0.61335	4.333093	0.352937513566917	0.58683	4.040	4.16604074518058E-4	0.06899	0.651	0.46895	0	0.670034	0.63936	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	4.11	3.04	0.34171	2.068000	0.41097	2.947000	0.35694	0.684000	0.82519	0.980000	0.35271	0.961000	0.29326	0.999000	0.91618	0.7824:0.0:0.2175:0.0	4.77	0.12523	744	0.52588	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1610.98	36	chr17	15716803	.	A	C	1610.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=840;ExcessHet=0.0000;FS=5.466;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=44.57;MQRankSum=-4.338e+00;QD=12.79;ReadPosRankSum=-3.320e-01;SOR=0.948	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1262	20	0	1	0
chr17	15738743	15738743	G	T	exonic	TBC1D26	.	nonsynonymous SNV	TBC1D26:NM_178571:exon8:c.G410T:p.R137M,	.	.	420	1071	29	2	0	33	0.0151724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.986	D	0.811	U	1.000	N	2.57	M	1.34	T	-0.884	T	0.189	T	0.323	1.019	9.162	-2.89	-0.585	-0.947	5.239	0.053	0.00300793216827	0.0036	0.00279553	0.0048	0.0014	0.0052	0	0.0051	0.0052	0.01	0.0073	0.0002846	44	154602	rs200599059	0.0045	0.0046	0.0043	0.0047	0.0115	0.0044	0.0044	0.0092	0.0084	0.0007	0.0035	0.0057	2.519e-05	0.0047	0.0115	0.0045	0.0046	0.0080	0.0036	0.0036	0.0034	0.0038	0.0083	0.0033	0.0032	0.0063	0.0055	0.0010	0	0.0048	0.0058	0	0.0034	0.0204	0.0048	0.0024	0.0083	0.056	0.38185	T	0.005	0.72224	D	1.0	0.90584	D	0.981	0.76916	D	0.811425	0.06830	U	1.143400	1	0.08975	N	2.305	0.65957	M	1.34	0.34841	T	-4.52	0.78302	D	0.25	0.31925	-0.8839	0.49448	T	0.189	0.54019	T	10	0.008189052	0.00186	T	0.003008	0.06457	T	0.053	0.14996	.	.	0.283761946502	0.27984	0.1447487754314169	0.14397	3.50374879105	0.99750	0.374598145485	0.21488	T	0.025945	0.19300	T	-0.509024	0.00508	T	-0.498686	0.22484	T	0.0571589763682511	0.06715	T	0.715328	0.35508	T	0.20950828	0.43220	0.28097957	0.54077	0.20950828	0.43219	0.28097957	0.54076	-4.518	0.43479	T	.	.	0.218	0.44809	B	.;.;.	.;.;.	1.291697	0.16929	12.85	0.89938657323165594	0.19236	0.00244	0.01352	N	AEFGI	0.044614	0.07199	N	-0.472508272218424	0.22984	1.231116	-0.852455980394181	0.13229	0.6850969	1.92644233888728E-5	0.02871	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.44	-2.89	0.05326	-0.806000	0.04632	-0.367000	0.09633	0.350000	0.19923	0.000000	0.06391	0.000000	0.08366	0.117000	0.19042	0.0:0.0:0.4793:0.5207	5.239	0.14780	725	0.54935	.;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	6446.68	35	chr17	15738743	.	G	T	6446.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.76;DP=1250;ExcessHet=0.3300;FS=3.245;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=47.07;MQRankSum=-6.547e+00;QD=11.55;ReadPosRankSum=-8.360e-01;SOR=0.951	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	3	0
chr17	16001925	16001925	T	C	exonic	TTC19	.	startloss	TTC19:NM_001271420:exon3:c.T2C:p.M1?	Mitochondrial complex III deficiency, nuclear type 2, Autosomal recessive	.	1	1519	2	0	0	2	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	.	.	.	.	0.001	D	0.992	D	1.7	L	-0.96	T	-0.496	T	0.377	T	0.843	2.533	14.43	5.7	2.322	4.274	12.720	0.436	0.0424067847749	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1390885250	1.164e-05	1.163e-05	1.636e-05	6.883e-06	7.559e-05	7.09e-06	5.8e-06	2.004e-05	1.055e-05	0	0	0	7.559e-05	0	0	9.902e-06	1.657e-05	2.319e-05	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.181	0.21884	T	0.011	0.64786	D	.	.	.	.	.	.	0.000595	0.43095	D	0.263481	0.991755	0.41466	D	2.095	0.58118	M	-0.96	0.75553	T	-2.2	0.49519	N	0.747	0.74644	-0.4963	0.68783	T	0.377	0.73438	T	8	0.628175	0.68363	D	0.042407	0.60446	D	0.436	0.74093	.	.	0.784306369956	0.78230	0.5682160448360645	0.56749	0.254964693077	0.28073	0.833218812943	0.87056	D	0.017123	0.14025	T	0.242749	0.77920	D	0.126402	0.78657	D	0.278541069693166	0.24110	T	0.559944	0.19565	T	0.19328192	0.41031	0.23505877	0.48740	0.19328192	0.41031	0.23505877	0.48738	-9.124	0.68491	D	0.3805121613512695	0.47499	0.732	0.74304	P	.	.	3.983286	0.58568	24.0	0.95629701375562337	0.27411	0.89088	0.49347	D	AEFBHCI	0.549073	0.56210	D	0.285381908399778	0.55407	3.70478	0.381406562866025	0.60420	4.229267	0.999999985948046	0.74766	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.7	5.7	0.88690	4.291000	0.58817	7.929000	0.74923	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	12.720	0.56507	233	0.90919	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1040.98	37	chr17	16001925	.	T	C	1040.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.964e+00;DP=841;ExcessHet=0.0000;FS=4.169;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=0.041;SOR=1.162	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr17	16353367	16353367	G	A	exonic	CENPV	.	nonsynonymous SNV	CENPV:NM_181716:exon1:c.C70T:p.P24S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.183	B	0.026	B	0.033	U	1.000	P	.	.	.	.	-1.046	T	0.000	T	0.145	2.002	12.65	-2.82	-0.106	0.154	4.975	0.008	0.0473102183953	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs188652843	9.05e-05	0.0001	0.0001	7.805e-05	0.0002	7.176e-05	6.504e-05	7.961e-05	7.142e-05	0	0	0	0.0002	0	0	0.0001	6.89e-05	0	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0001	0.0002	0.0002	0.0001	0	9.468e-05	0	0.0007	0.0002	0.0048	0.0003	0	0.0004	0.1	0.30515	T	0.11	0.37310	T	0.183	0.29179	B	0.026	0.20792	B	0.032717	0.01758	U	4.590520	1	0.19486	P	.	.	.	.	.	.	-0.45	0.14782	N	0.056	0.02759	-1.0463	0.15447	T	0.000	0.00039	T	7	0.026022345	0.00779	T	0.04731	0.62860	D	0.008	0.00669	.	.	0.0762999501168	0.06990	0.0957632365875013	0.09508	1.08570259194	0.77278	0.746981322765	0.74001	T	.	.	.	-0.49707	0.00594	T	-0.568566	0.15581	T	0.0420423204390575	0.04063	T	0.413959	0.10802	T	.	.	.	.	.	.	.	.	-2.215	0.04113	T	.	.	0.078	0.06756	B	.	.	0.199478	0.05846	2.285	0.94322220439154192	0.24649	0.01275	0.04458	N	AEFDGBHCI	0.051645	0.09144	N	-1.375230376239	0.02871	0.1274351	-1.50295177857258	0.02321	0.1065813	0.999999999308499	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	2.66	-2.82	0.05442	-0.845000	0.04448	0.061000	0.14131	-0.974000	0.01926	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.3488:0.1575:0.4937:0.0	4.975	0.13484	688	0.59122	.	.	.	.	.	rs188652843	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	225.79	21	chr17	16353367	.	G	A	225.79	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.124;DP=258;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0561;MLEAC=1;MLEAF=0.026;MQ=60.00;MQRankSum=0.00;QD=18.82;ReadPosRankSum=-3.980e-01;SOR=0.754	GT:AD:DP:GQ:PL	0/0:10,0:10:24:0,24,360	18	0	1	2
chr17	16353372	16353372	G	C	exonic	CENPV	.	nonsynonymous SNV	CENPV:NM_181716:exon1:c.C65G:p.A22G,	.	.	493	451	356	217	5	795	0.466903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.002	B	0.018	N	0.995	P	.	.	.	.	-1.045	T	0.000	T	0.13	-0.711	0.937	-5.31	-0.962	-0.654	7.385	0.005	0.0196258658988	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs149829221	7.149e-05	0.0003	7.417e-05	6.858e-05	0.0004	5.819e-05	5.381e-05	9.822e-05	5.577e-05	0	0.0004	0	0.0002	0	0	7.546e-05	2.353e-05	0	0.0001	0.0002	0.0002	0.0001	0.0004	9.954e-05	8.437e-05	0.0001	9.132e-05	7.305e-05	0	6.661e-05	0	0.0004	0.0001	0.0034	0.0002	0	0.0002	0.561	0.06361	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.018135	0.01481	N	4.295950	1	0.23375	P	.	.	.	.	.	.	0.16	0.05217	N	0.077	0.05162	-1.0452	0.15767	T	0.000	0.00011	T	7	0.019916922	0.00451	T	0.019626	0.42042	T	0.005	0.00259	.	.	0.0884992946249	0.08302	0.0786799102888714	0.07802	1.08031386052	0.77120	0.761266052723	0.76117	T	.	.	.	-0.513494	0.00480	T	-0.57513	0.14982	T	0.0382244026170994	0.03372	T	0.321768	0.06536	T	.	.	.	.	.	.	.	.	-4.474	0.30547	T	.	.	0.062	0.01367	B	.	.	0.600789	0.09695	6.463	0.46967313541535144	0.03803	0.01035	0.03875	N	AEFDGBHCI	0.040505	0.06034	N	-1.72508104807624	0.00756	0.03267343	-1.84943526281674	0.00613	0.02726113	0.99999999998593	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	2.66	-5.31	0.02519	0.072000	0.14482	-2.522000	0.03652	0.272000	0.18543	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.3102:0.4876:0.2022	7.385	0.26048	688	0.59122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	6610.61	16	chr17	16353372	.	G	GCGGAGGCCC,C	6610.61	.	AC=23,1;AF=0.548,0.024;AN=42;BaseQRankSum=0.00;DP=327;ExcessHet=0.2438;FS=3.230;InbreedingCoeff=0.2106;MLEAC=23,1;MLEAF=0.548,0.024;MQ=60.00;MQRankSum=0.00;QD=28.25;ReadPosRankSum=0.231;SOR=0.929	GT:AD:DP:GQ:PL	1/1:0,9,0:9:27:405,27,0,405,27,405	5	7	8	0
chr17	16690701	16690701	G	A	exonic	CCDC144A	.	nonsynonymous SNV	CCDC144A:NM_001382000:exon1:c.G301A:p.A101T	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.544	P	0.066	B	.	.	1.000	N	0.69	N	1.81	T	-1.034	T	0.028	T	0.072	1.008	9.116	-1.08	-0.402	-0.041	.	0.019	.	.	0.00738818	0.0034	9.649e-05	0.0002	0	0	0	0	0.0251	0.002956	457	154602	rs202033635	0.0015	0.0015	0.0008	0.0021	0.0232	0.0014	0.0014	0.0223	0.0220	8.966e-05	2.238e-05	0	0	0	0.0007	9.899e-06	0.0017	0.0232	0.0009	0.0009	0.0005	0.0014	0.0284	0.0008	0.0008	0.0245	0.0231	4.811e-05	0	0	0	0	0	0	2.94e-05	0	0.0284	0.057	0.51853	T	0.068	0.44106	T	0.544	0.37968	P	0.066	0.27432	B	.	.	.	.	1	0.08975	N	.	.	.	1.81	0.25182	T	-0.49	0.15578	N	0.365	0.40665	-1.0338	0.19236	T	0.028	0.11926	T	8	0.0034987926	0.00062	T	.	.	.	0.019	0.03383	0.289	0.24921	0.0297737177859	0.01360	0.015953991304362914	0.01551	.	.	0.501246094704	0.39002	T	0.003216	0.02616	T	-0.674323	0.00052	T	-0.723141	0.04646	T	0.00769879621582408	0.00090	T	0.49875	0.15541	T	0.09779297	0.23057	0.1313374	0.31539	0.09779297	0.23057	0.1313374	0.31538	-3.209	0.12591	T	.	.	0.17	0.42863	B	.;.;.;.	.;.;.;.	0.589461	0.09576	6.354	0.97229480598356655	0.32942	0.00117	0.00738	N	AEFBI	0.034099	0.04165	N	-1.05789732864923	0.07433	0.3452921	-1.23868173906093	0.05301	0.2522346	1.39928512219417E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.542	-1.08	0.09428	0.116000	0.15393	-5.952000	0.01542	-0.460000	0.05117	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	889	0.27310	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1757.98	34	chr17	16690701	.	G	A	1757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.043e+00;DP=897;ExcessHet=0.0000;FS=3.698;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=0.678;SOR=0.937	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,117,1253	20	0	1	0
chr17	16705202	16705202	A	G	exonic	CCDC144A	.	nonsynonymous SNV	CCDC144A:NM_001382000:exon3:c.A467G:p.K156R	.	.	.	.	.	.	.	.	.	.	.	2216165	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.45	T	0.88	P	0.636	P	.	.	1.000	N	0.895	L	1.49	T	-1.046	T	0.053	T	0.206	1.149	9.678	-2.76	-0.463	-0.787	1.924	0.028	0.00122191999655	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs764713137	5.39e-05	3.786e-05	5.536e-05	5.259e-05	0.0008	3.976e-05	3.47e-05	0.0001	0.0001	0	0	5.205e-05	0.0003	0	0.0008	3.652e-05	8.721e-05	9.93e-05	3.96e-05	4.595e-05	3.871e-05	4.053e-05	0.0004	1.722e-05	1.134e-05	6.842e-05	2.863e-05	0	0	0	0	0.0004	0	0	4.422e-05	0	0.0002	0.1	0.30656	T	0.155	0.42794	T	0.88	0.48402	P	0.636	0.51948	P	.	.	.	.	1	0.08975	N	.	.	.	1.49	0.31470	T	-0.46	0.14978	N	0.03	0.08925	-1.0456	0.15650	T	0.053	0.22539	T	9	0.04691589	0.03942	T	0.001222	0.01608	T	0.028	0.06331	0.175	0.08135	0.0138822411134	0.00435	0.00994212227009554	0.00956	.	.	0.468841671944	0.34520	T	0.00129	0.00775	T	-0.28377	0.10272	T	-0.645392	0.09280	T	0.0655009020928691	0.08005	T	0.561944	0.19701	T	0.027557202	0.01964	0.034148354	0.02431	0.027557202	0.01964	0.034148354	0.02431	-4.092	0.25172	T	.	.	0.115	0.23041	B	.;.;.;.	.;.;.;.	0.380608	0.07526	4.173	0.98120044583262345	0.38424	0.00067	0.00479	N	AEFI	0.022703	0.01168	N	-0.891251811961232	0.11050	0.5311885	-1.14227160204544	0.06907	0.3341081	3.44959255884503E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.72	-2.76	0.05547	-0.730000	0.05019	-0.602000	0.08265	0.471000	0.21939	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4182:0.0:0.3147:0.2671	1.924	0.03112	889	0.27310	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	313.33	35	chr17	16705202	.	A	G	313.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-7.500e-01;DP=603;ExcessHet=0.0000;FS=1.412;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=29.67;MQRankSum=-1.121e+00;QD=10.11;ReadPosRankSum=0.358;SOR=0.901	GT:AD:DP:GQ:PL	0/0:26,0:26:72:0,72,969	19	0	1	1
chr17	16727660	16727660	T	A	exonic	CCDC144A	.	nonsynonymous SNV	CCDC144A:NM_001382000:exon9:c.T2025A:p.N675K	.	.	.	.	.	.	.	.	.	.	.	3302976	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.003	B	0.004	B	.	.	0.979	N	-0.75	N	2.39	T	-0.952	T	0.012	T	0.069	-2.910	0.001	-3.36	-0.608	-0.129	3.443	0.006	0.00146830154849	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs762948246	6.457e-06	6.166e-06	7.155e-06	5.754e-06	0.0003	3.04e-06	2.2e-06	2.04e-06	1.34e-06	0	0	0	0	0	0.0003	5.663e-06	3.466e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999999	0.08975	N	.	.	.	2.39	0.15724	T	2.55	0.00222	N	0.114	0.13626	-0.9523	0.40573	T	0.012	0.04653	T	8	0.033891052	0.01578	T	0.001468	0.02241	T	0.006	0.00375	0.326	0.30873	0.0138822411134	0.00435	0.010282390760649423	0.00989	.	.	0.74387460947	0.73542	T	0.001123	0.00635	T	-0.398144	0.02381	T	-0.809683	0.01672	T	0.0557897101063128	0.06489	T	0.0322968	0.00278	T	0.027251089	0.01890	0.042220026	0.04980	0.027251089	0.01890	0.042220026	0.04979	1.673	0.00070	T	.	.	0.177	0.38640	B	.;.;.	.;.;.	-0.506886	0.01845	0.148	0.13544600045209676	0.00270	0.00638	0.02794	N	AEFI	0.026523	0.02006	N	-1.61445979069732	0.01194	0.05190342	-1.65304280462181	0.01360	0.06142503	5.22740426462124E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.08	-3.36	0.04606	-0.084000	0.11233	-1.313000	0.05742	-2.843000	0.00175	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5652:0.0:0.2319:0.2028	3.443	0.07041	895	0.25842	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	533.33	33	chr17	16727660	.	T	A	533.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.28;DP=688;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=34.19;MQRankSum=-1.414e+00;QD=11.85;ReadPosRankSum=0.080;SOR=0.686	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1269	19	0	1	1
chr17	16772639	16772639	C	T	exonic	CCDC144A	.	nonsynonymous SNV	CCDC144A:NM_014695:exon17:c.C4181T:p.S1394L,	.	.	430	1011	77	4	0	85	0.0403417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.007	B	0.0	B	.	.	1.000	N	0	N	4.19	T	-0.914	T	0.004	T	0.129	1.038	9.238	-2.81	-0.529	-0.196	2.245	0.008	.	0.0003	.	0.0221	0.0015	0.0117	0	0	0.0057	0.0507	0.0858	0.0032535	503	154602	rs367741901	0.0034	0.0037	0.0023	0.0046	0.0363	0.0033	0.0033	0.0352	0.0348	0.0004	0.0016	0.0029	7.612e-05	0.0005	0.0229	0.0011	0.0046	0.0363	0.0022	0.0023	0.0016	0.0027	0.0376	0.0020	0.0019	0.0331	0.0314	0.0002	0	0.0010	0.0020	0.0002	0	0.0136	0.0017	0.0009	0.0376	0.941	0.02191	T	0.212	0.26549	T	0.007	0.14184	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	4.19	0.02716	T	-1.78	0.42001	N	0.051	0.02272	-0.9136	0.46403	T	0.004	0.01400	T	9	0.0036412776	0.00067	T	.	.	.	0.008	0.00669	.	.	0.0611884634855	0.05136	0.030174966776690806	0.02966	.	.	0.407027572393	0.26045	T	0.005443	0.04891	T	-0.701887	0.00036	T	-0.757303	0.03210	T	0.00600579891116739	0.00066	T	0.412159	0.10706	T	0.04079915	0.05892	0.038459543	0.03719	0.04079915	0.05892	0.038459543	0.03719	-3.464	0.15931	T	.	.	0.163	0.35931	B	.	.	0.381424	0.07531	4.182	0.97350647096782417	0.33520	0.00046	0.00367	N	AEFI	0.015492	0.00298	N	-1.38850593164188	0.02745	0.1216496	-1.48591277293548	0.02459	0.1131521	3.09531586246284E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.41	-2.81	0.05459	-0.322000	0.08049	-3.381000	0.02830	0.273000	0.18552	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.2349:0.3117:0.4533	2.245	0.03782	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	709.33	38	chr17	16772639	.	C	T	709.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.59;DP=765;ExcessHet=0.0000;FS=0.803;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=34.97;MQRankSum=-1.580e+00;QD=7.16;ReadPosRankSum=0.884;SOR=0.553	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1367	19	0	1	1
chr17	16940392	16940394	TCT	-	exonic	TNFRSF13B	.	nonframeshift deletion	TNFRSF13B:NM_012452:exon4:c.563_565del:p.K188del,	Immunodeficiency, common variable, 2, Autosomal recessive, Autosomal dominant;Immunoglobulin A deficiency 2	.	1	1520	1	0	0	1	0.000328839	.	.	530603	Immunodeficiency,_common_variable,_2|TNFRSF13B-related_disorder	MONDO:MONDO:0009413,MedGen:C3150354,OMIM:240500,Orphanet:1572|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00319489	0.0020	0	0	0.0001	0	4.51e-05	0	0.0145	0.0006916	18	26028	rs376630110	0.0008	0.0008	0.0005	0.0012	0.0132	0.0008	0.0008	0.0126	0.0123	0	2.236e-05	0	2.519e-05	0	0.0033	4.496e-06	0.0009	0.0132	0.0006	0.0006	0.0003	0.0009	0.0176	0.0005	0.0004	0.0146	0.0135	2.405e-05	0	0	0	0	0	0	0	0.0014	0.0176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	975.94	35	chr17	16940391	.	CTCT	C	975.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.670e-01;DP=739;ExcessHet=0.0000;FS=3.855;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.41;ReadPosRankSum=-4.810e-01;SOR=1.182	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1089	20	0	1	0
chr17	16952521	16952521	G	T	exonic	TNFRSF13B	.	nonsynonymous SNV	TNFRSF13B:NM_012452:exon2:c.C124A:p.P42T,	Immunodeficiency, common variable, 2, Autosomal recessive, Autosomal dominant;Immunoglobulin A deficiency 2	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.951	P	0.528	P	0.231	N	1.000	N	1.7	L	-3.15	D	-0.119	T	0.695	D	0.239	-1.184	0.081	-3.64	-0.651	-1.087	0.340	0.352	0.0274869755308	.	0.000199681	3.298e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs531640813	2.463e-05	2.463e-05	1.089e-05	3.85e-05	0.0004	1.803e-05	1.6e-05	0.0003	0.0002	0	0	0	0	0	0.0002	0	6.623e-05	0.0004	1.969e-05	1.968e-05	0	4.027e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	0	0	0.0006	0.141	0.25560	T	0.455	0.12776	T	0.057	0.22878	B	0.064	0.27215	B	0.231050	0.03518	N	1.603780	1	0.08975	N	1.575	0.39704	L	-3.15	0.92938	D	-1.77	0.41809	N	0.157	0.16308	-0.1190	0.79657	T	0.695	0.89470	D	10	0.09373364	0.16610	T	0.027487	0.50293	D	0.352	0.67326	0.199	0.11247	0.424549175451	0.42073	0.14456267367167974	0.14379	0.0433830160621	0.04671	0.305603504181	0.11242	T	0.557503	0.85128	D	-0.224205	0.17422	T	-0.259508	0.48873	T	0.574896633625031	0.35423	D	0.394361	0.11714	T	0.05149854	0.09466	0.06486243	0.13064	0.04696467	0.07948	0.0659812	0.13451	-5.678	0.43497	T	0.20344493633235	0.27087	0.106	0.19879	B	.;.	.;.	0.400050	0.07713	4.391	0.46161582567956733	0.03677	0.01643	0.05285	N	AEFDBCI	0.027266	0.02199	N	-1.01289436219887	0.08336	0.3904803	-1.21757469892538	0.05627	0.2686515	0.999994998511466	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	3.22	-3.64	0.04225	-0.975000	0.03900	-1.155000	0.06169	-0.317000	0.05909	0.000000	0.06391	0.000000	0.08366	0.234000	0.22842	0.2242:0.1648:0.2763:0.3347	0.340	0.00310	534	0.73357	TACI, cysteine-rich domain;TACI, cysteine-rich domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	594.98	71	chr17	16952521	.	G	T	594.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.056e+00;DP=804;ExcessHet=0.0000;FS=0.895;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.38;ReadPosRankSum=-4.330e-01;SOR=0.582	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1237	20	0	1	0
chr17	17147359	17147359	G	A	exonic	MPRIP	.	nonsynonymous SNV	MPRIP:NM_001364716:exon11:c.G1601A:p.R534K	.	.	431	1074	17	0	0	17	0.00785219	.	.	2716962	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.58	T	0.939	P	0.842	P	.	.	1.000	D	0.095	N	-0.92	T	-0.582	T	0.328	T	0.776	4.115	21.2	5.4	2.701	7.751	19.542	0.384	0.0224399987283	0.0003	0.000199681	0.0007	9.614e-05	0.0007	0	0	0.0006	0	0.0023	0.000608	94	154602	rs200990767	0.0005	0.0005	0.0004	0.0006	0.0028	0.0005	0.0005	0.0018	0.0018	0.0001	0.0009	0.0008	0	0	0.0028	0.0004	0.0008	0.0021	0.0005	0.0005	0.0004	0.0005	0.0027	0.0004	0.0003	0.0016	0.0013	2.405e-05	0	0.0007	0.0006	0	0	0	0.0006	0	0.0027	0.341	0.12673	T	0.709	0.13993	T	0.939	0.52645	P	0.842	0.60272	P	.	.	.	.	0.999307	0.46608	D	0.89	0.21648	L	-0.92	0.75108	T	-0.28	0.11547	N	0.441	0.48596	-0.5816	0.65554	T	0.328	0.69631	T	9	0.037644327	0.02132	T	0.02244	0.45329	T	0.384	0.70112	.	.	0.890180543243	0.88909	0.8531674880308365	0.85278	0.631570097891	0.57109	.	.	.	0.250749	0.62089	T	-0.164656	0.26045	T	-0.0151516	0.69348	D	0.0525764673948288	0.05946	T	0.885811	0.61165	D	0.23923945	0.46812	0.2482315	0.50369	0.23923945	0.46811	0.2482315	0.50368	-9.435	0.70454	D	.	.	0.246	0.50527	B	.;.;.	.;.;.	3.637068	0.51552	23.1	0.99509447787367855	0.68558	0.96582	0.69863	D	AEFGBCI	0.919119	0.88917	D	0.306371879108372	0.56475	3.812243	0.444331196750598	0.64353	4.688597	0.999999999808468	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.685742	0.62368	0	0.635551	0.53088	0	.	.	5.4	5.4	0.77957	6.710000	0.74492	11.917000	0.99728	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.542	0.95269	544	0.72685	.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|Myosin phosphatase-RhoA interacting protein, PH domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|Myosin phosphatase-RhoA interacting protein, PH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1269.98	40	chr17	17147359	.	G	A	1269.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.572;DP=872;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.68;ReadPosRankSum=0.00;SOR=0.734	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr17	17164314	17164314	A	G	exonic	MPRIP	.	nonsynonymous SNV	MPRIP:NM_001364716:exon16:c.A2723G:p.N908S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.992	N	.	.	.	.	-1.028	T	0.083	T	.	-2.504	0.003	3.56	0.427	4.018	6.284	0.091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1436068537	3.908e-05	3.078e-05	3.408e-05	4.428e-05	0.0006	2.979e-05	2.659e-05	0.0003	0.0002	4.095e-05	3.537e-05	0	0.0006	0	0.0002	3.475e-05	4.806e-05	0	3.938e-05	3.937e-05	5.138e-05	2.684e-05	0.0010	1.714e-05	1.128e-05	0.0004	0.0002	0	0	0	0	0.0010	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1058.98	43	chr17	17164314	.	A	G	1058.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.729e+00;DP=810;ExcessHet=0.0000;FS=2.793;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=0.473;SOR=0.413	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1150	20	0	1	0
chr17	17215284	17215284	C	T	exonic	FLCN	.	nonsynonymous SNV	FLCN:NM_144997:exon12:c.G1333A:p.A445T	Birt-Hogg-Dube syndrome, Autosomal dominant;Colorectal cancer, somatic;Pneumothorax, primary spontaneous, Autosomal dominant;Renal carcinoma, chromophobe, somatic	YES	0	1493	28	1	0	30	0.00994695	.	.	18409	not_specified|not_provided|Birt-Hogg-Dube_syndrome|Familial_spontaneous_pneumothorax|Carcinoma_of_colon|Hereditary_cancer-predisposing_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0800444,MedGen:C0346010,OMIM:PS135150,Orphanet:122|MONDO:MONDO:0008259,MedGen:C1868193,OMIM:173600,Orphanet:2903|MONDO:MONDO:0002032,MedGen:C0699790|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.6	T	0.0	B	0.0	B	0.257	N	1.000	N	-1.1	N	-2.99	D	-0.568	T	0.295	T	0.061	1.047	9.277	-7.45	-1.837	-0.036	7.727	0.203	0.0604308747319	0.0019	0.000798722	0.0027	0.0005	0.0013	0	0.0008	0.0037	0.0022	0.0033	0.0026132	404	154602	rs41419545	0.0030	0.0030	0.0029	0.0031	0.0132	0.0029	0.0029	0.0108	0.0099	0.0005	0.0021	0.0024	0	0.0007	0.0132	0.0032	0.0032	0.0040	0.0024	0.0024	0.0025	0.0023	0.0059	0.0022	0.0022	0.0049	0.0045	0.0003	0	0.0059	0.0035	0.0002	0.0005	0.0204	0.0033	0.0043	0.0023	0.87	0.02606	T	0.553	0.09329	T	0.0	0.02946	B	0.0	0.01387	B	0.257102	0.15389	N	0.695908	1	0.08975	N	-1.04	0.01097	N	-2.99	0.92108	D	0.19	0.04947	N	0.205	0.22742	-0.5684	0.66079	T	0.295	0.66640	T	10	0.004835129	0.00103	T	0.060431	0.67999	D	0.203	0.48915	.	.	0.187035705434	0.18338	0.2022582816453621	0.20142	0.356774467599	0.37413	0.292996585369	0.09360	T	0.30576	0.67800	T	-0.477074	0.00770	T	-0.459533	0.26650	T	0.00136713459327549	0.00014	T	0.59684	0.22194	T	0.023952244	0.01180	0.045600146	0.06172	0.03681238	0.04600	0.042168256	0.04959	-3.216	0.12677	T	0.08208204089075731	0.04303	0.064	0.01762	B	.	.	-0.579733	0.01628	0.113	0.74823135621684544	0.10840	0.01028	0.03857	N	AEFDGBI	0.025846	0.01838	N	-1.83791171747947	0.00459	0.01974575	-1.83918489512921	0.00641	0.02852158	0.980657301027315	0.30161	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.66	-7.45	0.01229	-0.032000	0.12217	-3.274000	0.02915	-0.773000	0.03420	0.049000	0.21372	0.000000	0.08366	0.000000	0.00833	0.0:0.2869:0.3329:0.3802	7.727	0.27930	759	0.50631	Folliculin, C-terminal|Folliculin/SMCR8, tripartite DENN domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1652.98	33	chr17	17215284	.	C	T	1652.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.696;DP=882;ExcessHet=0.0000;FS=0.637;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=-3.490e-01;SOR=0.635	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1022	20	0	1	0
chr17	17270967	17270967	G	A	exonic	COPS3	.	nonsynonymous SNV	COPS3:NM_001316356:exon2:c.C26T:p.T9M	.	.	435	1074	13	0	0	13	0.00601573	.	.	2338714	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	0.891	P	0.432	B	0.000	D	1.000	D	0.345	N	0.93	T	-1.038	T	0.088	T	0.77	4.550	24.6	5.52	2.752	9.685	18.776	0.247	0.0166037733078	.	0.000399361	0.0003	0	0.0004	0	0	0.0003	0.0011	0.0008	0.0003105	48	154602	rs147175757	0.0003	0.0003	0.0003	0.0003	0.0045	0.0003	0.0002	0.0032	0.0027	2.987e-05	0.0006	0.0007	2.519e-05	0	0.0045	0.0002	0.0004	0.0006	0.0002	0.0002	0.0002	0.0002	0.0011	0.0002	0.0002	0.0007	0.0005	2.408e-05	0	0.0011	0.0006	0	0	0.0068	0.0001	0.0024	0.0004	0.11	0.29688	T	0.109	0.37872	T	0.891	0.49025	P	0.432	0.45448	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.5	0.37844	L	0.93	0.44065	T	-1.49	0.41239	N	0.648	0.65930	-1.0383	0.17832	T	0.088	0.33913	T	10	0.11189371	0.20969	T	0.016604	0.37934	T	0.247	0.55478	.	.	0.499331887115	0.49568	0.3663468224563598	0.36548	0.628598450742	0.56923	0.855083107948	0.90379	D	0.219592	0.58264	T	-0.178982	0.23886	T	-0.119026	0.61883	T	0.042003400236306	0.04055	T	0.980102	0.93255	D	0.24284342	0.47216	0.18541554	0.41653	0.24284342	0.47216	0.18541554	0.41652	-6.105	0.47623	T	.	.	0.125	0.29751	B	.;.;.;.	.;.;.;.	5.275240	0.88578	29.6	0.99866367590375171	0.94457	0.99336	0.94674	D	AEFBI	0.918247	0.88702	D	0.484457815633573	0.66183	4.917188	0.593304688198876	0.74456	6.140564	0.999999989919915	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	9.788000	0.98207	9.754000	0.81484	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:1.0:0.0	18.776	0.91877	851	0.35303	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	581.98	33	chr17	17270967	.	G	A	581.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.285;DP=752;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.43;ReadPosRankSum=-1.220e+00;SOR=0.582	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1039	20	0	1	0
chr17	17477109	17477109	C	G	exonic	MED9	.	nonsynonymous SNV	MED9:NM_018019:exon1:c.C68G:p.P23R,	.	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.278	B	0.099	B	0.048	N	0.993	N	0.895	L	.	.	-1.045	T	0.074	T	0.216	1.371	10.51	1.91	0.157	0.559	11.148	0.025	0.0288770512202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.874e-07	6.841e-07	1.368e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.665e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.019	0.74150	D	0.278	0.32022	B	0.099	0.30579	B	0.047544	0.23334	N	0.364609	0.993408	0.23718	N	0.805	0.20218	L	.	.	.	-1.61	0.38734	N	0.257	0.29081	-1.0448	0.15884	T	0.074	0.29865	T	9	0.13602254	0.25881	T	0.028877	0.51484	D	0.025	0.05312	0.138	0.04187	0.202949470691	0.19918	0.31616873956999064	0.31529	0.927097404483	0.71684	0.681411445141	0.64471	T	0.084809	0.63567	T	-0.158483	0.26995	T	-0.465426	0.26011	T	0.252457857131958	0.22983	T	0.473853	0.14122	T	0.038765255	0.05227	0.12272998	0.29602	0.038765255	0.05227	0.12272998	0.29601	-4.869	0.35385	T	0.2942798260070767	0.39114	0.098	0.16319	B	.;.	.;.	2.543986	0.32911	19.18	0.94091855596670471	0.24249	0.10005	0.15628	N	AEFGBHCIJ	0.061564	0.11779	N	-0.676224912065291	0.16700	0.8531721	-0.634670290885663	0.18605	0.9946102	0.999999999991055	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.13	1.91	0.24841	0.739000	0.25841	1.150000	0.24473	-0.314000	0.05961	0.837000	0.30238	0.867000	0.27550	0.008000	0.08271	0.4847:0.5153:0.0:0.0	11.148	0.47667	769	0.49307	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	423.98	34	chr17	17477109	.	C	G	423.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=740;ExcessHet=0.0000;FS=2.407;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.31;ReadPosRankSum=0.595;SOR=0.606	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,971	20	0	1	0
chr17	17793782	17793782	-	CAG	exonic	RAI1	.	nonframeshift insertion	RAI1:NM_030665:exon3:c.834_835insCAG:p.Q291_A292insQ,	Smith-Magenis syndrome, Autosomal dominant, Isolated cases	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	8476.07	194	chr17	17793779	.	CCAG	C,CCAGCAG	8476.07	.	AC=7,2;AF=0.167,0.048;AN=42;BaseQRankSum=0.190;DP=4672;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.3035;MLEAC=7,2;MLEAF=0.167,0.048;MQ=60.00;MQRankSum=0.00;QD=4.69;ReadPosRankSum=0.870;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:202,19,0:221:40:0|1:17793779_CCAG_C:40,0,6529,647,6587,7233:17793779	12	0	7	0
chr17	17794090	17794090	C	T	exonic	RAI1	.	nonsynonymous SNV	RAI1:NM_030665:exon3:c.C1142T:p.A381V,	Smith-Magenis syndrome, Autosomal dominant, Isolated cases	.	1	1515	6	0	0	6	0.00197628	.	.	102071	not_provided|Smith-Magenis_syndrome|Inborn_genetic_diseases|not_specified	MedGen:C3661900|MONDO:MONDO:0008434,MedGen:C0795864,OMIM:182290,Orphanet:819|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.04	D	0.976	D	0.696	P	0.005	N	1.000	D	1.935	M	1.44	T	-0.975	T	0.106	T	0.67	3.010	16.04	5.55	2.621	3.141	19.494	0.193	.	0.0036	0.00299521	0.0036	0.0013	0.0041	0	0.0006	0.0054	0.0044	0.0006	0.0035705	552	154602	rs113208290	0.0045	0.0045	0.0045	0.0045	0.0051	0.0044	0.0044	0.0048	0.0048	0.0008	0.0051	0.0134	0	0.0008	0.0047	0.0049	0.0056	0.0008	0.0040	0.0040	0.0041	0.0039	0.0081	0.0037	0.0036	0.0069	0.0065	0.0013	0	0.0081	0.0138	0.0002	0.0009	0.0102	0.0052	0.0047	0.0010	0.002	0.72154	D	0.057	0.46406	T	0.976	0.58310	D	0.696	0.54017	P	0.004764	0.33407	N	0.298968	0.99992	0.51308	D	1.955	0.52871	M	1.44	0.32722	T	-1.33	0.55339	N	0.506	0.53796	-0.9751	0.36104	T	0.106	0.38611	T	10	0.007868499	0.00179	T	.	.	.	0.193	0.47281	.	.	0.117191471859	0.11215	0.3903836673548236	0.38953	0.354127082392	0.37196	0.421463221312	0.28038	T	0.094197	0.39367	T	-0.311477	0.07620	T	-0.217857	0.52942	T	0.0273435220180576	0.01593	T	0.865113	0.56350	D	0.10556923	0.24961	0.15154576	0.35694	0.11847794	0.27914	0.1756728	0.40049	-4.531	0.31292	T	0.3811925489293024	0.47560	0.099	0.16713	B	.;.;.	.;.;.	3.703170	0.52822	23.3	0.99903370039741779	0.97502	0.96446	0.69180	D	AEFBI	0.557196	0.56692	D	0.333544258906735	0.57877	3.956975	0.273534033604529	0.54000	3.566356	0.999999999338325	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.61531	0.40942	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	3.897000	0.55986	5.927000	0.51257	0.599000	0.40250	0.978000	0.35038	1.000000	0.68203	0.042000	0.14466	0.0:1.0:0.0:0.0	19.494	0.95058	313	0.87327	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.04762	8237.11	266	chr17	17794090	.	C	T	8237.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.75;DP=3245;ExcessHet=0.1072;FS=1.737;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.66;ReadPosRankSum=0.898;SOR=0.598	GT:AD:DP:GQ:PL	0/0:197,0:197:99:0,120,1800	19	0	2	0
chr17	17796598	17796598	G	A	exonic	RAI1	.	nonsynonymous SNV	RAI1:NM_030665:exon3:c.G3650A:p.R1217Q,	Smith-Magenis syndrome, Autosomal dominant, Isolated cases	.	0	1516	6	0	0	6	0.00197498	.	.	177420	not_provided|Inborn_genetic_diseases|Smith-Magenis_syndrome|not_specified|RAI1-related_disorder	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008434,MedGen:C0795864,OMIM:182290,Orphanet:819|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.28	T	0.076	B	0.005	B	0.013	N	1.000	N	1.7	L	0.3	T	-0.894	T	0.209	T	0.735	1.988	12.60	3.13	1.859	3.395	11.982	0.255	0.0207254952611	0.0006	0.000998403	0.0006	9.929e-05	0.0002	0	0	0.0006	0.0022	0.0017	0.0006209	96	154602	rs142415050	0.0010	0.0010	0.0010	0.0010	0.0015	0.0010	0.0009	0.0013	0.0012	0.0002	0.0002	0	5.038e-05	0	0.0009	0.0012	0.0006	0.0015	0.0007	0.0007	0.0007	0.0007	0.0027	0.0006	0.0005	0.0016	0.0013	0.0004	0	0.0002	0	0	0	0	0.0010	0.0019	0.0027	0.033	0.44358	D	0.309	0.19782	T	0.076	0.24253	B	0.005	0.11217	B	0.013006	0.28981	N	0.145694	1	0.08975	N	1.43	0.35840	L	-0.29	0.67712	T	0.0	0.07008	N	0.728	0.72925	-0.8938	0.48595	T	0.209	0.56893	T	10	0.006658286	0.00151	T	0.020725	0.43381	T	0.255	0.56562	.	.	0.818595399886	0.81688	0.30436663253010837	0.30349	0.325946002528	0.34745	0.427944391966	0.28928	T	0.08663	0.37767	T	-0.196127	0.21366	T	-0.0845779	0.64569	T	0.0152815311965125	0.00338	T	0.814918	0.46941	T	0.06842718	0.14907	0.06661709	0.13670	0.06940466	0.15202	0.05833464	0.10762	-3.998	0.23774	T	0.3619055521118208	0.45826	0.109	0.20896	B	.;.	.;.	3.444504	0.47929	22.5	0.99769756157672662	0.85834	0.70692	0.34696	D	AEFDBI	0.113558	0.22401	N	-0.163016955798903	0.34681	1.982612	-0.0599921909853841	0.37061	2.16494	0.419205164346773	0.20277	0.706548	0.73137	0	0.724815	0.89359	0	0.578056	0.29568	0	0.714379	0.83352	0	.	.	4.12	3.13	0.35090	3.484000	0.52965	3.257000	0.37065	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.750000	0.35786	0.0873:0.0:0.9127:0.0	11.982	0.52417	311	0.87433	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	2808.98	43	chr17	17796598	.	G	A	2808.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.58;DP=1060;ExcessHet=0.0000;FS=1.059;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.25;ReadPosRankSum=-8.300e-01;SOR=0.776	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	20	0	1	0
chr17	18016615	18016615	A	G	exonic	DRC3	.	nonsynonymous SNV	DRC3:NM_031294:exon14:c.A1516G:p.I506V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.005	B	0.007	B	0.012	N	1.000	D	1.46	L	0.78	T	-1.063	T	0.098	T	0.08	1.866	12.20	0.932	-0.106	0.458	8.817	0.016	0.00445128449278	.	.	3.343e-05	0.0001	0	0.0002	0	0	0	6.198e-05	2.59e-05	4	154602	rs779699710	1.095e-05	1.094e-05	1.225e-05	9.627e-06	0.0004	6.48e-06	5.24e-06	0.0002	0.0002	2.987e-05	0	0	0.0004	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.20002	T	0.232	0.24987	T	0.005	0.12996	B	0.007	0.12992	B	0.012276	0.29231	N	0.389178	1	0.81001	D	.	.	.	0.78	0.49358	T	-0.58	0.17417	N	0.027	0.00618	-1.0631	0.10997	T	0.098	0.36651	T	10	0.03862357	0.02294	T	0.004451	0.10906	T	0.016	0.02506	0.243	0.17677	0.37097340754	0.36704	0.28981519354376445	0.28894	0.152986545687	0.17264	0.264645040035	0.05457	T	0.002177	0.01575	T	-0.493967	0.00618	T	-0.627316	0.10619	T	0.0181947283387486	0.00540	T	0.49655	0.15423	T	0.028988047	0.02321	0.04038089	0.04352	0.028988047	0.02321	0.04038089	0.04352	-2.354	0.04859	T	.	.	0.058	0.00670	B	.;.	.;.	0.191356	0.05775	2.217	0.93706227473107118	0.23621	0.28149	0.23474	N	AEFDBIJ	0.084488	0.17123	N	-0.496914409973532	0.22182	1.182612	-0.411148462186798	0.24669	1.352243	0.00342846914284515	0.10109	0.615465	0.37627	0	0.614415	0.52539	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	5.72	0.932	0.18591	0.543000	0.22945	-2.778000	0.03371	-0.040000	0.17491	0.639000	0.28076	0.000000	0.08366	0.966000	0.53164	0.6757:0.0:0.3243:0.0	8.817	0.34159	357	0.85079	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1569.98	35	chr17	18016615	.	A	G	1569.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.017e+00;DP=858;ExcessHet=0.0000;FS=2.851;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.19;ReadPosRankSum=-3.260e-01;SOR=0.738	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1459	20	0	1	0
chr17	18038979	18038979	C	T	exonic	ATPAF2	.	nonsynonymous SNV	ATPAF2:NM_145691:exon1:c.G35A:p.G12E,	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, Autosomal recessive	.	1	1514	6	1	0	8	0.00263505	.	.	140172	not_specified|not_provided|Mitochondrial_complex_V_(ATP_synthase)_deficiency,_nuclear_type_1	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011421,MedGen:C3276276,OMIM:604273,Orphanet:254913	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.27	T	0.866	P	0.578	P	0.000	D	1.000	N	0	N	-1.04	T	-0.885	T	0.090	T	0.497	2.345	13.80	4.69	2.606	1.449	14.822	0.284	.	0.0002	0.00898562	0.0046	0.0001	0.0004	0.0365	0.0105	0.0019	0.0176	0.0024	0.0033764	522	154602	rs149036879	0.0016	0.0016	0.0015	0.0017	0.0266	0.0016	0.0015	0.0253	0.0247	8.969e-05	0.0003	0.0016	0.0266	0.0081	0.0019	0.0004	0.0030	0.0022	0.0022	0.0022	0.0018	0.0026	0.0310	0.0020	0.0019	0.0271	0.0256	9.619e-05	0	0.0014	0.0006	0.0310	0.0084	0.0034	0.0005	0.0033	0.0027	0.379	0.11227	T	0.054	0.47097	T	0.866	0.47610	P	0.578	0.50118	P	0.000218	0.47681	D	0.137680	1	0.08975	N	1.59	0.40313	L	-1.04	0.76819	T	-0.45	0.14782	N	0.281	0.31814	-0.8848	0.49373	T	0.090	0.34573	T	10	0.004758656	0.00101	T	.	.	.	0.284	0.60219	.	.	0.843161948481	0.84166	0.5168452113417248	0.51607	0.439867171488	0.44003	0.626670956612	0.56673	T	0.047755	0.27818	T	-0.348607	0.04816	T	-0.251896	0.49631	T	0.0206251289044633	0.00762	T	0.651335	0.26216	T	0.08036305	0.18411	0.21912912	0.46640	0.07788069	0.17704	0.26778662	0.52640	-9.248	0.69280	D	.	.	0.261	0.49538	B	.;.;.	.;.;.	1.875559	0.23824	16.16	0.8661229084574823	0.16653	0.05393	0.11259	N	ALL	0.102838	0.20619	N	-0.365251241504125	0.26716	1.460164	-0.408930956501561	0.24735	1.35617	0.999999999999912	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	4.69	4.69	0.58546	0.968000	0.28955	1.990000	0.30074	-0.269000	0.06763	0.001000	0.13787	0.005000	0.19230	0.055000	0.15596	0.0:1.0:0.0:0.0	14.822	0.69712	438	0.80235	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	706.98	33	chr17	18038979	.	C	T	706.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.00;DP=743;ExcessHet=0.0000;FS=1.333;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.67;ReadPosRankSum=-1.560e-01;SOR=1.085	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1198	20	0	1	0
chr17	18120185	18120185	G	A	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon2:c.G1385A:p.G462D,	Deafness, autosomal recessive 3, Autosomal recessive	.	0	1496	26	0	0	26	0.00861498	.	.	230690	Autosomal_recessive_nonsyndromic_hearing_loss_3|not_provided|not_specified|MYO15A-related_disorder	MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636|MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.57	T	0.11	B	0.03	B	.	.	1.000	D	0.55	N	0.87	T	-1.093	T	0.042	T	0.738	2.911	15.70	4.43	1.270	4.652	8.725	0.137	0.00846079617299	0.0032	0.00199681	0.0036	0.0005	0.0047	0	0.0020	0.0048	0.0091	0.0019	0.0033958	525	154602	rs145292219	0.0036	0.0036	0.0036	0.0037	0.0135	0.0036	0.0035	0.0111	0.0102	0.0007	0.0043	0.0014	5.038e-05	0.0021	0.0135	0.0041	0.0035	0.0018	0.0033	0.0033	0.0030	0.0035	0.0061	0.0030	0.0029	0.0051	0.0047	0.0006	0	0.0061	0.0014	0	0.0046	0.0068	0.0044	0.0047	0.0017	0.086	0.32610	T	0.252	0.23570	T	0.11	0.26188	B	0.03	0.21741	B	.	.	.	.	0.649619	0.30545	N	1.495	0.37439	L	0.87	0.46412	T	-2.07	0.47344	N	0.453	0.56231	-1.0930	0.05051	T	0.042	0.18202	T	9	0.0044930875	0.00092	T	0.008461	0.22382	T	0.137	0.36984	.	.	0.465294738428	0.46155	0.5363742320479349	0.53562	.	.	0.619306981564	0.55631	T	0.031152	0.56248	T	-0.312222	0.07554	T	-0.220308	0.52708	T	0.00877049237361181	0.00108	T	0.711229	0.32236	T	0.13697459	0.31733	0.14230512	0.33858	0.11124209	0.26288	0.14297454	0.33994	-3.775	0.20432	T	.	.	0.499	0.64550	A	.;.;.	.;.;.	3.921901	0.57260	23.8	0.99655347948461648	0.77568	0.88578	0.48571	D	AEFDBCI	0.551489	0.56354	D	-0.229297224980632	0.31936	1.795857	-0.0328325519200769	0.38241	2.250257	0.0020970045356823	0.09151	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	5.4	4.43	0.52967	2.953000	0.48798	11.640000	0.93781	0.652000	0.53365	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0759:0.0:0.772:0.1521	8.725	0.33628	246	0.90367	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3114.98	34	chr17	18120185	.	G	A	3114.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.062e+00;DP=985;ExcessHet=0.0000;FS=0.972;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.51;ReadPosRankSum=-7.270e-01;SOR=0.784	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	20	0	1	0
chr17	18121787	18121787	C	G	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon2:c.C2987G:p.P996R,	Deafness, autosomal recessive 3, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	1434257	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.799	P	0.327	B	.	.	1.000	N	0.895	L	-2.34	D	-0.524	T	0.443	T	0.336	0.737	7.914	2.69	0.409	0.620	7.179	0.218	0.272853975183	8.3e-05	.	3.44e-05	0	8.705e-05	0	0	3.135e-05	0	6.271e-05	2.59e-05	4	154602	rs201087528	3.563e-05	3.557e-05	3.953e-05	3.168e-05	0.0003	2.767e-05	2.505e-05	6.094e-05	2.522e-05	0	4.48e-05	0	0	0	0.0003	3.599e-05	3.315e-05	6.961e-05	6.573e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.799	0.44910	P	0.327	0.41976	B	.	.	.	.	1	0.08975	N	2.015	0.55033	M	-2.34	0.87989	D	-2.27	0.50666	N	0.347	0.38848	-0.5238	0.67774	T	0.443	0.78051	T	9	0.15173563	0.28675	T	0.272854	0.89945	D	0.218	0.51265	.	.	0.715252854683	0.71275	0.3394435367343584	0.33857	.	.	0.392243206501	0.23985	T	0.03048	0.55146	T	-0.0578667	0.43240	T	-0.13937	0.60172	T	0.188617140054703	0.19763	T	0.630337	0.24523	T	0.15417883	0.34911	0.36328274	0.61718	0.15417883	0.34911	0.36328274	0.61718	-4.526	0.31227	T	0.14182003837479087	0.15988	0.116	0.23535	B	.;.;.	.;.;.	1.291129	0.16923	12.85	0.95364529873087744	0.26768	0.18920	0.20456	N	AEFDBI	0.065194	0.12704	N	-0.514366434327016	0.21614	1.148402	-0.624415824731122	0.18866	1.009765	2.8081055354437E-4	0.06300	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.7	2.69	0.30923	0.206000	0.17174	0.115000	0.14837	-0.180000	0.10397	0.000000	0.06391	0.000000	0.08366	0.063000	0.16184	0.0:0.789:0.0:0.211	7.179	0.24938	248	0.90287	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1297.98	36	chr17	18121787	.	C	G	1297.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.340;DP=815;ExcessHet=0.0000;FS=2.725;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.38;ReadPosRankSum=-1.111e+00;SOR=1.060	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1177	20	0	1	0
chr17	18122159	18122159	G	A	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon2:c.G3359A:p.R1120H,	Deafness, autosomal recessive 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1038509	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.05	D	0.001	B	0.0	B	.	.	1.000	N	0.55	N	-2.45	D	-0.659	T	0.445	T	0.09	2.621	14.72	-4.38	-0.636	-0.808	12.590	0.167	0.0831248354272	0.0011	0.000599042	0.0003	0.0027	0	0.0002	0	9.127e-05	0	6.058e-05	0.0002458	38	154602	rs200738532	0.0001	0.0001	0.0001	0.0001	0.0015	0.0001	9.641e-05	0.0012	0.0010	0.0015	4.472e-05	0	0.0001	0	0.0002	9.263e-05	0.0001	3.478e-05	0.0005	0.0005	0.0006	0.0005	0.0017	0.0004	0.0004	0.0014	0.0013	0.0017	0	0	0	0.0002	0	0	7.35e-05	0	0	0.003	0.68238	D	0.009	0.66756	D	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.115	0.08564	N	-2.45	0.88847	D	-0.45	0.14782	N	0.131	0.12627	-0.6595	0.62298	T	0.445	0.78142	T	9	0.005762905	0.00128	T	0.083125	0.74047	D	0.167	0.42761	.	.	0.298403945805	0.29456	0.3154629327406427	0.31459	.	.	0.260507017374	0.04951	T	0.006798	0.36652	T	-0.405488	0.02130	T	-0.361708	0.37855	T	0.0516243169796395	0.05782	T	0.765923	0.39354	T	0.054836914	0.10576	0.14627701	0.34660	0.054836914	0.10575	0.14627701	0.34659	-5.067	0.37558	T	0.1151130751147732	0.10263	0.105	0.19235	B	.;.;.	.;.;.	0.936484	0.13117	9.622	0.9783853851932699	0.36312	0.00587	0.02638	N	AEFDBI	0.026133	0.01909	N	-1.34491322087551	0.03178	0.141529	-1.35611090417878	0.03734	0.1747996	0.00100731403297148	0.08115	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.08	-4.38	0.03371	-0.497000	0.06509	-0.541000	0.08582	-0.724000	0.03774	0.032000	0.20554	0.000000	0.08366	0.523000	0.29544	0.4805:0.0:0.5194:0.0	12.590	0.55793	248	0.90287	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2965.98	36	chr17	18122159	.	G	A	2965.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.065;DP=1006;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=-3.540e-01;SOR=0.724	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1177	20	0	1	0
chr17	18124520	18124520	G	A	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon3:c.G3647A:p.R1216H,	Deafness, autosomal recessive 3, Autosomal recessive	.	0	1513	5	4	0	13	0.00427772	.	.	486171	Autosomal_recessive_nonsyndromic_hearing_loss_3|not_provided|MYO15A-related_disorder	MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.1	T	0.02	B	0.003	B	.	.	1.000	N	1.52	L	-3.67	D	-0.277	T	0.653	D	0.133	1.427	10.71	-0.091	-0.201	1.518	0.639	0.188	0.0179359380178	0.0002	0.000199681	0.0010	0.0001	0.0002	0.0001	0	0.0004	0	0.0056	0.0008667	134	154602	rs202148411	0.0007	0.0007	0.0005	0.0009	0.0057	0.0007	0.0007	0.0053	0.0051	2.987e-05	0.0003	3.826e-05	5.038e-05	0	0.0010	0.0004	0.0008	0.0057	0.0005	0.0005	0.0004	0.0006	0.0066	0.0004	0.0004	0.0048	0.0042	7.217e-05	0	0.0003	0	0	0	0.0034	0.0005	0	0.0066	0.07	0.35349	T	0.178	0.29639	T	0.02	0.18235	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.755	0.19153	N	-3.67	0.95247	D	-3.5	0.68178	D	0.318	0.38129	-0.2768	0.75627	T	0.653	0.87920	D	9	0.010714948	0.00237	T	0.017936	0.39831	T	0.188	0.46444	.	.	0.491996647052	0.48833	0.4697696185806288	0.46895	.	.	0.217368483543	0.01163	T	0.059	0.80511	T	-0.298317	0.08819	T	-0.199646	0.54679	T	0.0163368098789863	0.00403	T	0.579642	0.20943	T	0.038133044	0.05022	0.07338558	0.15941	0.044029597	0.06967	0.072141185	0.15528	-4.851	0.35179	T	0.5754239349297257	0.64241	0.069	0.03266	B	.;.;.	.;.;.	1.328128	0.17329	13.10	0.96896723090384285	0.31519	0.11575	0.16724	N	AEFDGBIJ	0.102146	0.20498	N	-0.992002254049234	0.08774	0.4126724	-1.03338561745372	0.09056	0.4484929	3.53075473774056E-4	0.06668	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.49	-0.0909	0.12999	1.525000	0.35560	0.486000	0.18854	-0.127000	0.13314	0.006000	0.17386	0.002000	0.18203	0.292000	0.24309	0.3453:0.1194:0.2911:0.2442	0.639	0.00755	266	0.89551	Myosin head, motor domain;Myosin head, motor domain;Myosin head, motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1327.98	34	chr17	18124520	.	G	A	1327.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.49;DP=799;ExcessHet=0.0000;FS=1.716;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.43;ReadPosRankSum=0.292;SOR=0.853	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1289	20	0	1	0
chr17	18148547	18148547	C	T	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon31:c.C6743T:p.A2248V,	Deafness, autosomal recessive 3, Autosomal recessive	.	0	1495	25	2	0	29	0.00960583	.	.	54920	not_provided|not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_3	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.91	P	0.335	B	.	.	1.000	D	2.505	M	-2.51	D	0.520	D	0.670	D	0.499	3.388	17.43	4.3	2.226	3.518	16.520	0.661	.	0.0003	0.00439297	0.0093	0.0005	0.0023	0	0	0.0016	0.0104	0.0216	0.0017982	278	154602	rs199831544	0.0014	0.0014	0.0008	0.0020	0.0182	0.0013	0.0013	0.0174	0.0171	6.324e-05	5.569e-05	0.0073	0	0	0.0028	0.0002	0.0018	0.0182	0.0008	0.0008	0.0006	0.0010	0.0145	0.0007	0.0006	0.0118	0.0108	9.627e-05	0	0.0005	0.0066	0	0	0	0.0002	0.0009	0.0145	0.043	0.41364	D	0.002	0.79402	D	0.91	0.50240	P	0.335	0.42239	B	.	.	.	.	0.999897	0.50595	D	3.17	0.88688	M	-2.51	0.89293	D	-3.82	0.71997	D	0.377	0.58883	0.520	0.90822	D	0.670	0.88546	D	9	0.0093669295	0.00212	T	.	.	.	0.661	0.87332	.	.	0.779154654256	0.77711	0.7726035762880744	0.77210	.	.	0.560795664787	0.47380	T	0.128323	0.88232	T	-0.208815	0.19545	T	-0.0577883	0.66487	T	0.0954846278579105	0.11853	T	0.884712	0.60854	D	0.38575172	0.59729	0.37404418	0.62579	0.36982277	0.58572	0.40623018	0.65002	-9.642	0.71740	D	0.6357685959209678	0.70577	0.352	0.56696	A	.;.;.	.;.;.	4.075321	0.60581	24.2	0.99693189963661699	0.80112	0.92504	0.55867	D	AEFBI	0.381485	0.46373	N	0.403898352134571	0.61637	4.367414	0.395471302872952	0.61285	4.326514	0.996981160912718	0.35173	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.3	4.3	0.50540	4.537000	0.60354	7.595000	0.61372	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	16.520	0.84159	190	0.92594	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	601.98	34	chr17	18148547	.	C	T	601.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.280e-01;DP=752;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.03;ReadPosRankSum=0.383;SOR=0.801	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1081	20	0	1	0
chr17	18148792	18148792	G	A	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon32:c.G6796A:p.V2266M,	Deafness, autosomal recessive 3, Autosomal recessive	.	0	1484	38	0	0	38	0.0126414	.	.	176472	Autosomal_recessive_nonsyndromic_hearing_loss_3|not_provided|not_specified	MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.981	D	.	.	1.000	D	2.69	M	-2.94	D	0.804	D	0.828	D	0.176	2.915	15.71	4.26	2.203	3.113	16.852	0.691	.	0.0069	0.00998403	0.0081	0.0308	0.0040	0.0048	0.0071	0.0053	0.0071	0.0094	0.0044437	687	154602	rs114274755	0.0038	0.0038	0.0036	0.0039	0.0191	0.0037	0.0037	0.0179	0.0174	0.0191	0.0027	0.0018	0.0012	0.0017	0.0129	0.0031	0.0062	0.0079	0.0079	0.0079	0.0082	0.0075	0.0183	0.0075	0.0073	0.0172	0.0168	0.0183	0.0033	0.0044	0.0023	0.0042	0.0022	0.0102	0.0037	0.0099	0.0083	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.981	0.75168	D	.	.	.	.	0.999726	0.48557	D	2.85	0.82803	M	-2.94	0.91851	D	-2.58	0.55662	D	0.256	0.48596	0.804	0.94464	D	0.828	0.94224	D	9	0.00869599	0.00197	T	.	.	.	0.691	0.88773	.	.	0.789955191066	0.78800	0.7734870707751024	0.77298	.	.	0.466697096825	0.34228	T	0.159079	0.89826	T	-0.270151	0.11740	T	-0.144573	0.59720	T	0.0186068453905915	0.00574	T	0.832317	0.50011	T	0.21298486	0.43665	0.28708565	0.54719	0.25677887	0.48718	0.29830658	0.55863	-11.467	0.82157	D	0.6535977975587219	0.72609	0.214	0.44293	B	.;.;.	.;.;.	3.896003	0.56716	23.8	0.9957329123921802	0.72561	0.94542	0.61503	D	AEFDBI	0.440353	0.49895	N	0.609228781352819	0.73758	6.018633	0.518113720952307	0.69208	5.327907	0.99869715174054	0.37477	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.26	4.26	0.49832	3.346000	0.51907	7.578000	0.60885	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	16.852	0.85862	188	0.92666	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	584.98	38	chr17	18148792	.	G	A	584.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=776;ExcessHet=0.0000;FS=2.282;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.64;ReadPosRankSum=-3.470e-01;SOR=0.851	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1113	20	0	1	0
chr17	18155154	18155154	G	A	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon45:c.G8269A:p.V2757M,	Deafness, autosomal recessive 3, Autosomal recessive	.	0	1482	37	3	0	43	0.0143	.	.	176616	Autosomal_recessive_nonsyndromic_hearing_loss_3|MYO15A-related_disorder|not_provided|not_specified	MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636|.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.242	B	0.105	B	.	.	0.964	D	2.165	M	-2.73	D	-0.124	T	0.531	D	0.157	0.082	4.445	-0.241	0.104	1.276	6.741	0.276	0.258361269117	0.0014	0.00219649	0.0023	0.0004	0.0028	0.0001	0.0005	0.0021	0.0046	0.0058	0.0022186	343	154602	rs140140417	0.0019	0.0019	0.0017	0.0021	0.0147	0.0018	0.0018	0.0122	0.0113	0.0005	0.0024	0.0061	2.519e-05	0.0002	0.0147	0.0016	0.0030	0.0053	0.0016	0.0016	0.0016	0.0015	0.0043	0.0014	0.0014	0.0029	0.0024	0.0004	0	0.0025	0.0046	0.0006	0.0007	0.0136	0.0018	0.0057	0.0043	0.048	0.40068	D	0.134	0.52389	T	0.149	0.27956	B	0.01	0.14941	B	.	.	.	.	0.763895	0.29510	N	1.47	0.36993	L	-2.73	0.90679	D	-2.18	0.49187	N	0.275	0.31140	-0.1236	0.79550	T	0.531	0.82612	D	9	0.0064539015	0.00146	T	0.258361	0.89405	D	0.276	0.59253	.	.	0.600825740518	0.59764	0.4457462142118012	0.44492	.	.	0.419347465038	0.27747	T	0.046696	0.65209	T	-0.342059	0.05246	T	-0.26234	0.48590	T	0.00478396346384637	0.00051	T	0.716728	0.33194	T	0.07735013	0.17550	0.13745384	0.32854	0.06249197	0.13057	0.119086966	0.28744	-6.928	0.53507	T	0.41057589769316	0.50096	0.088	0.11893	B	.;.;.;.;.	.;.;.;.;.	2.035020	0.25866	16.92	0.83213195503592097	0.14603	0.66823	0.33213	D	AEFBI	0.174771	0.30192	N	-0.460585179935102	0.23382	1.255274	-0.505606052839797	0.22000	1.192848	0.996699927236294	0.34934	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.2	-0.241	0.12399	1.130000	0.31007	1.255000	0.25194	0.676000	0.76740	0.834000	0.30193	0.645000	0.25934	0.690000	0.33838	0.2809:0.0:0.5946:0.1245	6.741	0.22626	163	0.93656	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1642.98	33	chr17	18155154	.	G	A	1642.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.47;DP=844;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=0.614;SOR=0.713	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1355	20	0	1	0
chr17	18178850	18178850	A	G	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon65:c.A10573G:p.S3525G,	Deafness, autosomal recessive 3, Autosomal recessive	YES	0	1511	11	0	0	11	0.00362677	.	.	230759	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_3|not_specified	MedGen:C3661900|MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.999	D	0.994	D	.	.	1.000	D	2.14	M	-2.8	D	0.539	D	0.709	D	0.491	4.171	21.6	5.6	2.132	9.070	15.459	0.500	.	0.0002	0.0125799	0.0064	0.0005	0.0138	0.0006	0	6.042e-05	0.0068	0.0358	0.0058214	900	154602	rs182332665	0.0028	0.0028	0.0018	0.0038	0.0366	0.0027	0.0027	0.0356	0.0351	0.0005	0.0125	0	0.0002	0	0.0012	4.496e-05	0.0037	0.0366	0.0028	0.0028	0.0021	0.0036	0.0387	0.0026	0.0025	0.0342	0.0324	0.0008	0	0.0120	0	0.0012	9.436e-05	0	4.413e-05	0.0062	0.0387	0.002	0.72154	D	0.0	0.92824	D	0.999	0.77913	D	0.994	0.82059	D	.	.	.	.	1	0.81001	D	2.77	0.80896	M	-2.8	0.91076	D	-1.7	0.40468	N	0.407	0.44761	0.539	0.91090	D	0.709	0.90006	D	9	0.008612871	0.00195	T	.	.	.	0.500	0.78350	.	.	0.935787677643	0.93512	0.46874749108965874	0.46793	.	.	0.721662759781	0.70288	T	0.030362	0.49389	T	-0.164003	0.26145	T	0.0188048	0.71553	D	0.0351016106589374	0.02826	T	0.822818	0.48291	T	0.37915948	0.59256	0.50394154	0.71326	0.3924253	0.60205	0.45464295	0.68291	-3.942	0.22933	T	0.6270703916275335	0.69605	0.265	0.49903	B	.;.;.	.;.;.	3.901542	0.56841	23.8	0.99626242462518366	0.75716	0.99061	0.90654	D	AEFI	0.927590	0.91048	D	0.773262619416709	0.84410	8.279811	0.749083215684274	0.86089	8.778858	0.99999999967714	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.6	5.6	0.84997	9.083000	0.93460	11.223000	0.89837	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.667000	0.33166	1.0:0.0:0.0:0.0	15.459	0.75067	140	0.94439	FERM domain;FERM domain;FERM domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	831.98	34	chr17	18178850	.	A	G	831.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.980e-01;DP=745;ExcessHet=0.0000;FS=1.168;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.70;ReadPosRankSum=2.04;SOR=0.970	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1334	20	0	1	0
chr17	18232545	18232545	C	G	exonic	LLGL1	.	nonsynonymous SNV	LLGL1:NM_004140:exon3:c.C230G:p.T77S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.329	B	0.077	B	0.000	D	1.000	D	0.975	L	-0.08	T	-0.912	T	0.164	T	0.22	2.267	13.54	5.78	2.761	6.021	19.664	0.079	0.0176205719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.589	0.05826	T	0.538	0.09829	T	0.329	0.33227	B	0.077	0.28532	B	0.000008	0.62929	D	0.146783	0.999718	0.48481	D	1.69	0.43327	L	-0.08	0.63911	T	-0.32	0.12283	N	0.517	0.57006	-0.9116	0.46657	T	0.164	0.50144	T	10	0.40248084	0.55665	T	0.017621	0.39390	T	0.079	0.23065	0.444	0.50139	0.514969635325	0.51138	0.2259350553057138	0.22508	0.364426849662	0.38057	0.417051464319	0.27432	T	0.261202	0.63266	T	-0.0955629	0.37158	T	-0.375046	0.36300	T	0.53829962015152	0.34041	D	.	.	.	0.04728129	0.08055	0.09381683	0.22177	0.04728129	0.08055	0.09381683	0.22176	-2.106	0.03610	T	.	.	0.127	0.29367	B	.;.	.;.	3.311848	0.45507	22.1	0.96433267055411254	0.29803	0.99333	0.94632	D	AEFGBI	0.783363	0.71437	D	0.0488897201846647	0.44092	2.68958	0.23553730450005	0.51829	3.362304	0.999999999999429	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	6.125000	0.71359	7.641000	0.63200	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.0:1.0:0.0:0.0	19.664	0.95883	158	0.93861	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1665.98	33	chr17	18232545	.	C	G	1665.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.514;DP=835;ExcessHet=0.0000;FS=2.576;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=0.469;SOR=0.459	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1339	20	0	1	0
chr17	18253331	18253331	T	C	exonic	FLII	.	nonsynonymous SNV	FLII:NM_001256265:exon8:c.A821G:p.N274S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.998	D	0.978	D	0.000	D	1.000	D	1.17	L	1.84	T	-1.086	T	0.095	T	0.221	1.001	9.090	4.69	0.993	4.919	12.019	0.057	0.00806739710097	.	0.000798722	0.0004	0	0	0	0	0	0	0.0027	0.0003105	48	154602	rs571506611	0.0001	0.0001	7.488e-05	0.0002	0.0023	0.0001	0.0001	0.0021	0.0020	0	0	0	0	0	0	0	0.0001	0.0023	5.255e-05	5.25e-05	3.856e-05	6.718e-05	0.0017	2.557e-05	1.83e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.543	0.06735	T	0.64	0.06970	T	0.08	0.24543	B	0.017	0.18140	B	0.000004	0.62929	D	0.141171	0.999996	0.58761	D	1.7	0.43825	L	5.49	0.24841	T	-1.4	0.34596	N	0.214	0.41063	-1.0862	0.06191	T	0.095	0.35897	T	10	0.015763849	0.00331	T	0.008067	0.21393	T	0.057	0.16321	0.285	0.24280	0.351180957027	0.34734	0.3487972502439057	0.34793	0.22874769435	0.25428	0.494423449039	0.38053	T	0.020023	0.62482	T	-0.497596	0.00590	T	-0.493086	0.23067	T	0.0859958175334715	0.10735	T	.	.	.	0.061862875	0.12859	0.07532413	0.16570	0.061862875	0.12859	0.07532413	0.16569	-6.466	0.50617	T	.	.	0.082	0.18372	B	.;.;.;.;.	.;.;.;.;.	2.670838	0.34820	19.73	0.87453127186192214	0.17238	0.96777	0.70884	D	AEFDGBI	0.597582	0.59131	D	0.0310612955031943	0.43272	2.623418	0.114843368886389	0.45307	2.796196	0.999990124533942	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.78	4.69	0.58546	4.897000	0.62918	1.542000	0.27234	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.068:0.0:0.932	12.019	0.52627	210	0.91826	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1299.98	35	chr17	18253331	.	T	C	1299.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.623;DP=833;ExcessHet=0.0000;FS=0.786;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=-1.262e+00;SOR=0.847	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr17	18285268	18285268	A	C	exonic	TOP3A	.	nonsynonymous SNV	TOP3A:NM_001320759:exon14:c.T1466G:p.L489R	.	.	427	1092	3	0	0	3	0.00137174	.	.	715280	not_provided|TOP3A-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.803	P	0.729	P	0.000	D	1.000	D	3.285	M	1.74	T	-0.652	T	0.144	T	0.956	2.779	15.25	5.4	2.038	9.233	15.417	0.753	0.0676467461516	0.0048	0.000798722	0.0028	0.0012	0.0010	0.0001	0.0008	0.0042	0.0022	0.0018	0.0031759	491	154602	rs34001746	0.0056	0.0056	0.0056	0.0056	0.0067	0.0055	0.0054	0.0065	0.0065	0.0008	0.0022	0.0002	0	0.0005	0.0035	0.0067	0.0070	0.0020	0.0032	0.0032	0.0033	0.0031	0.0059	0.0030	0.0029	0.0054	0.0052	0.0011	0	0.0014	0	0	0.0007	0	0.0059	0.0033	0.0019	0.0	0.91255	D	0.023	0.57104	D	0.803	0.45133	P	0.62	0.51382	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.455	0.92281	M	1.74	0.26301	T	-5.82	0.88289	D	0.966	0.97750	-0.6524	0.62609	T	0.144	0.46623	T	10	0.030588925	0.01186	T	0.067647	0.70225	D	0.753	0.91541	.	.	0.340510301474	0.33666	0.9832176121174968	0.98313	0.793143290014	0.65900	0.773919999599	0.78011	T	0.258325	0.62947	T	-0.0253932	0.48083	T	0.196721	0.82949	D	0.0855084716702376	0.10677	T	.	.	.	0.9554681	0.96820	0.94121397	0.97847	0.9606977	0.97351	0.9494898	0.98369	-11.664	0.85016	D	.	.	0.837	0.79463	P	.;.;.	.;.;.	4.940188	0.81522	27.6	0.98489284403286292	0.42073	0.99343	0.94772	D	AEFGBI	0.914876	0.87885	D	0.784817847738091	0.85147	8.490188	0.764052166924325	0.87204	9.141873	0.999995400528612	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	9.220000	0.94329	11.212000	0.89433	0.681000	0.82415	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	1.0:0.0:0.0:0.0	15.417	0.74698	364	0.84707	DNA topoisomerase, type IA, central|DNA topoisomerase, type IA, central;DNA topoisomerase, type IA, central|DNA topoisomerase, type IA, central;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3084.98	33	chr17	18285268	.	A	C	3084.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.114e+00;DP=960;ExcessHet=0.0000;FS=0.489;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.77;ReadPosRankSum=-8.820e-01;SOR=0.752	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1297	20	0	1	0
chr17	18317476	18317476	C	T	exonic	SMCR8	.	nonsynonymous SNV	SMCR8:NM_144775:exon1:c.C1687T:p.P563S,	.	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.0	B	0.001	B	0.425	N	1.000	N	0.345	N	1.48	T	-1.030	T	0.044	T	0.114	-1.398	0.023	5.05	1.529	0.648	11.841	0.097	0.00504753955247	.	0.00119808	0.0006	0.0002	0	0	0	1.502e-05	0	0.0041	0.0004916	76	154602	rs200520378	0.0003	0.0003	0.0002	0.0004	0.0041	0.0003	0.0003	0.0037	0.0036	2.987e-05	4.472e-05	0	2.519e-05	0	0.0009	2.968e-05	0.0003	0.0041	0.0001	0.0001	0.0001	0.0001	0.0025	7.57e-05	6.276e-05	0.0014	0.0011	4.81e-05	0	0	0	0	0	0	5.88e-05	0	0.0025	0.221	0.18889	T	0.519	0.10501	T	0.0	0.02946	B	0.001	0.04355	B	0.425160	0.12820	N	0.747973	1	0.08975	N	1.355	0.33814	L	1.48	0.31731	T	-0.67	0.19297	N	0.079	0.05414	-1.0298	0.20519	T	0.044	0.19111	T	10	0.003555864	0.00064	T	0.005048	0.12784	T	0.097	0.27909	.	.	0.0846915920261	0.08053	0.4365567616013322	0.43572	0.0483416464701	0.05284	0.240195050836	0.02808	T	0.008682	0.07952	T	-0.625632	0.00102	T	-0.671735	0.07498	T	0.0231691952955885	0.01044	T	.	.	.	0.0968963	0.22830	0.044957165	0.05943	0.0968963	0.22830	0.044957165	0.05942	-1.892	0.02798	T	.	.	0.067	0.02548	B	.	.	0.190341	0.05766	2.209	0.37771591860586828	0.02509	0.45170	0.27479	N	AEFBCI	0.172718	0.29976	N	-0.826717188580293	0.12630	0.6168489	-0.750243183381743	0.15716	0.8279547	0.999999601574933	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	6.03	5.05	0.67566	0.148000	0.16042	1.439000	0.26511	0.599000	0.40250	0.000000	0.06391	0.007000	0.19602	0.001000	0.02609	0.0:0.919:0.0:0.081	11.841	0.51625	507	0.75469	Folliculin/SMCR8, tripartite DENN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1167.98	43	chr17	18317476	.	C	T	1167.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.80;DP=2215;ExcessHet=0.0000;FS=0.707;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.52;ReadPosRankSum=0.803;SOR=0.616	GT:AD:DP:GQ:PL	0/0:137,0:137:99:0,120,1800	20	0	1	0
chr17	18340210	18340210	T	C	exonic	SHMT1	.	nonsynonymous SNV	SHMT1:NM_001281786:exon6:c.A233G:p.K78R	.	.	421	1051	48	2	0	52	0.0241411	.	.	704009	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	0.053	B	0.06	B	0.000	N	0.990	D	1.4	L	1.38	T	-1.058	T	0.041	T	0.109	3.049	16.18	4.57	1.069	2.682	9.109	0.035	.	0.0071	0.0151757	0.0062	0.0199	0.0084	0.0024	0	0.0021	0.0088	0.0167	0.0060025	928	154602	rs78909145	0.0034	0.0034	0.0029	0.0039	0.0473	0.0033	0.0033	0.0427	0.0409	0.0210	0.0076	0.0036	0.0010	5.617e-05	0.0473	0.0013	0.0075	0.0184	0.0081	0.0082	0.0081	0.0082	0.0201	0.0078	0.0076	0.0175	0.0170	0.0185	0	0.0097	0.0061	0.0039	0	0.0374	0.0021	0.0137	0.0201	0.038	0.44358	D	0.043	0.49942	D	0.004	0.22573	B	0.021	0.26717	B	0.000068	0.52346	N	0.206980	0.99021	0.41111	D	1.33	0.33268	L	1.38	0.34050	T	-1.21	0.32791	N	0.151	0.16864	-1.0582	0.12209	T	0.041	0.17827	T	10	0.014129251	0.00298	T	.	.	.	0.035	0.08770	.	.	0.528210255337	0.52467	0.4474451742756085	0.44662	0.152257239178	0.17183	0.435752749443	0.29996	T	0.14153	0.47664	T	-0.557501	0.00263	T	-0.557993	0.16564	T	0.0134239098633414	0.00244	T	0.906609	0.67118	D	0.36433715	0.58164	0.21635857	0.46260	0.36433715	0.58164	0.21635857	0.46259	-6.233	0.50171	T	.	.	0.076	0.06159	B	.;.;.	.;.;.	2.220564	0.28336	17.76	0.9970165076275801	0.80660	0.93487	0.58350	D	AEFGBI	0.453719	0.50673	N	-0.124629802319406	0.36321	2.097945	0.0240949506191221	0.40837	2.443514	0.026629716599066	0.13724	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	4.57	0.55860	2.194000	0.42301	2.331000	0.32195	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.0:0.1416:0.0:0.8584	9.109	0.35876	569	0.70546	.;Serine hydroxymethyltransferase-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2484.98	33	chr17	18340210	.	T	C	2484.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.335e+00;DP=885;ExcessHet=0.0000;FS=2.560;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.36;ReadPosRankSum=-1.296e+00;SOR=0.530	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1477	20	0	1	0
chr17	18487701	18487701	C	T	exonic	LGALS9C	.	nonsynonymous SNV	LGALS9C:NM_001040078:exon4:c.C388T:p.R130C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.136	B	0.017	B	0.116	N	1.000	N	2.96	M	3.39	T	-0.977	T	0.030	T	0.155	1.129	9.602	-0.274	-0.278	-2.024	2.859	0.064	0.00408481869391	.	.	0.0002	0	0.0009	0	0.0003	2.22e-05	0	0.0007	3.84e-05	1	26028	rs757744648	7.697e-05	0.0001	8.005e-05	7.385e-05	0.0003	6.518e-05	6.062e-05	0.0002	0.0002	3.004e-05	0.0003	0	2.527e-05	9.65e-05	0	5.019e-05	0.0001	0.0003	5.776e-05	9.361e-05	9.844e-05	1.484e-05	0.0001	2.78e-05	2.091e-05	5.472e-05	3.828e-05	2.469e-05	0	0	0	0	0	0	0.0001	0	0	0.22	0.18956	T	0.096	0.46182	T	0.136	0.27347	B	0.017	0.18140	B	0.115837	0.02681	N	1.761250	1	0.08975	N	3.36	0.91202	M	3.39	0.05710	T	-3.5	0.68178	D	0.305	0.35301	-0.9766	0.35772	T	0.030	0.12848	T	10	0.16310754	0.30551	T	0.004085	0.09744	T	0.064	0.18567	0.757	0.88648	0.082315109003	0.07666	0.37097069515603587	0.37011	.	.	0.341344356537	0.16639	T	0.11931	0.44074	T	-0.496085	0.00601	T	-0.616218	0.11485	T	0.128243686319994	0.15218	T	.	.	.	0.17183976	0.37841	0.12824482	0.30857	0.17183976	0.37840	0.12824482	0.30856	-8.566	0.64865	D	.	.	0.113	0.24867	B	.;.;.;.;.	.;.;.;.;.	1.432986	0.18516	13.78	0.77201032541300907	0.11778	0.01384	0.04710	N	AEFI	0.153401	0.27825	N	-0.845498144842939	0.12160	0.591089	-0.995667703957755	0.09882	0.4942853	1.26206073939335E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	3.37	-0.274	0.12272	-0.924000	0.04104	-5.630000	0.01650	0.279000	0.18609	0.000000	0.06391	0.000000	0.08366	0.455000	0.28006	0.1982:0.5276:0.164:0.1103	2.859	0.05237	745	0.52414	Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain;Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain;Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain;Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain;Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1451.98	40	chr17	18487701	.	C	T	1451.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.52;DP=1135;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=48.30;MQRankSum=-1.469e+00;QD=9.07;ReadPosRankSum=1.34;SOR=0.736	GT:AD:DP:GQ:PL	0/0:152,0:152:99:0,120,1800	20	0	1	0
chr17	18488990	18488990	C	A	exonic	LGALS9C	.	nonsynonymous SNV	LGALS9C:NM_001040078:exon5:c.C494A:p.S165Y,	.	.	566	946	9	1	0	11	0.00578035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.048	B	0.02	B	0.410	N	1.000	N	0.805	L	3.9	T	-0.909	T	0.009	T	0.277	1.224	9.966	0.888	0.514	-0.008	4.256	0.016	.	8e-05	.	0.0080	0.0003	0.0007	0.0002	0	3.451e-05	0.0038	0.0553	0.0056468	873	154602	rs140117613	0.0033	0.0033	0.0018	0.0048	0.0518	0.0032	0.0032	0.0505	0.0499	9.141e-05	0.0003	0	0	0	0.0010	8.133e-05	0.0027	0.0518	0.0017	0.0019	0.0008	0.0027	0.0538	0.0015	0.0015	0.0480	0.0458	0.0002	0	7.16e-05	0	0.0004	0	0	3.323e-05	0.0005	0.0538	0.216	0.19225	T	0.425	0.13912	T	0.048	0.22112	B	0.02	0.19048	B	0.409581	0.13015	N	0.687394	1	0.08975	N	0.345	0.11182	N	3.9	0.03516	T	-1.84	0.43149	N	0.301	0.34012	-0.9092	0.46952	T	0.009	0.03011	T	10	0.0032287538	0.00055	T	.	.	.	0.016	0.02506	.	.	0.0675242888579	0.06100	0.20267648041994385	0.20184	.	.	0.324178785086	0.14053	T	0.008739	0.08002	T	-0.475863	0.00782	T	-0.603248	0.12539	T	0.00665965076774264	0.00075	T	.	.	.	0.08128179	0.18668	0.09517238	0.22561	0.08128179	0.18668	0.09517238	0.22561	-6.086	0.46993	T	.	.	0.158	0.34906	B	.	.	1.553701	0.19911	14.50	0.80500866301759122	0.13233	0.02474	0.06938	N	AEFI	0.095095	0.19219	N	-1.11481828005475	0.06379	0.293468	-1.14608540016966	0.06838	0.3305529	1.26559086579658E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.615948	0.41167	0	0.620846	0.47308	0	.	.	2.96	0.888	0.18340	0.049000	0.13983	0.150000	0.15280	0.291000	0.18778	0.000000	0.06391	0.000000	0.08366	0.194000	0.21720	0.0:0.6566:0.0:0.3434	4.256	0.10165	745	0.52414	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	822.98	33	chr17	18488990	.	C	A	822.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.079e+00;DP=985;ExcessHet=0.0000;FS=1.423;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.05;MQRankSum=-2.695e+00;QD=4.99;ReadPosRankSum=-1.431e+00;SOR=0.555	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,120,1800	20	0	1	0
chr17	18727657	18727657	G	A	exonic	TRIM16L	.	nonsynonymous SNV	TRIM16L:NM_001037330:exon2:c.G100A:p.G34S	.	.	422	1090	10	0	0	10	0.00456621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.718	P	0.237	B	0.000	U	0.998	N	0.55	N	-0.25	T	-0.986	T	0.129	T	0.284	0.834	8.366	1.11	0.655	2.127	7.425	0.100	0.0191105825696	0.0014	0.000599042	0.0016	9.61e-05	0.0009	0	0	0.0024	0.0011	0.0016	0.0013713	212	154602	rs145703700	0.0011	0.0011	0.0010	0.0012	0.0097	0.0011	0.0011	0.0077	0.0070	0.0004	0.0011	0.0081	0	3.744e-05	0.0097	0.0010	0.0021	0.0012	0.0010	0.0010	0.0010	0.0010	0.0018	0.0009	0.0008	0.0012	0.0011	0.0002	0	0.0018	0.0081	0	0	0.0034	0.0011	0.0014	0.0015	0.241	0.17643	T	0.512	0.10750	T	0.363	0.33965	B	0.071	0.27960	B	0.000064	0.52346	U	0.074077	0.99804	0.22380	N	0.975	0.24501	L	-0.25	0.67011	T	-2.11	0.48020	N	0.17	0.18103	-0.9863	0.33518	T	0.129	0.43747	T	10	0.008188307	0.00186	T	0.019111	0.41382	T	0.100	0.28662	.	.	0.365317461125	0.36143	0.2914576785952377	0.29058	.	.	0.622469604015	0.56078	T	0.128539	0.45626	T	-0.412395	0.01916	T	-0.378383	0.35912	T	0.0188325385854021	0.00594	T	0.809319	0.45944	T	0.062322527	0.13004	0.0869104	0.20166	0.062322527	0.13004	0.0869104	0.20166	-7.11	0.54832	T	.	.	0.146	0.32104	B	.	.	1.351926	0.17595	13.26	0.9716505428971336	0.32647	0.69389	0.34168	D	AEFDBHI	0.162815	0.28903	N	-0.514735915253303	0.21602	1.147684	-0.519597891989364	0.21622	1.170524	0.0396920521486324	0.14405	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	3.25	1.11	0.19640	1.737000	0.37821	0.688000	0.20738	0.217000	0.18040	0.981000	0.35396	0.110000	0.22784	0.035000	0.13729	0.246:0.0:0.754:0.0	7.425	0.26266	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2766.98	50	chr17	18727657	.	G	A	2766.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.43;DP=914;ExcessHet=0.0000;FS=10.370;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.13;MQRankSum=-1.905e+00;QD=13.83;ReadPosRankSum=0.287;SOR=0.704	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr17	18727721	18727721	C	G	exonic	TRIM16L	.	nonsynonymous SNV	TRIM16L:NM_001037330:exon2:c.C164G:p.T55R	.	.	420	1086	16	0	0	16	0.00731261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.0	B	0.001	B	0.002	N	0.999	N	-1.935	N	-0.19	T	-0.965	T	0.042	T	0.391	-2.598	0	-0.19	-0.093	0.883	5.229	0.177	0.00172076807055	.	.	0.0016	0.0015	0.0006	0.0016	0	0.0011	0.0022	0.0045	0.0001552	24	154602	rs141461321	0.0013	0.0063	0.0012	0.0014	0.0039	0.0012	0.0012	0.0035	0.0034	0.0013	0.0015	0.0015	0.0013	0.0008	0.0025	0.0011	0.0016	0.0039	0.0019	0.0058	0.0019	0.0019	0.0061	0.0017	0.0016	0.0044	0.0038	0.0018	0	0.0014	0.0012	0.0017	0.0007	0.0035	0.0020	0.0019	0.0061	0.825	0.02921	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.002110	0.37227	N	0.217758	0.998546	0.22085	N	-1.78	0.00307	N	-0.2	0.66113	T	2.48	0.00239	N	0.201	0.22228	-0.9648	0.38250	T	0.042	0.18202	T	10	0.0036156476	0.00066	T	0.001721	0.02882	T	0.177	0.44549	.	.	0.202086224978	0.19791	0.1393852053865787	0.13861	.	.	0.456749379635	0.32865	T	0.003461	0.02869	T	-0.436533	0.01355	T	-0.3961	0.33837	T	0.000294664280465911	0.00002	T	0.211279	0.02560	T	0.04591656	0.07598	0.050596133	0.07975	0.04591656	0.07597	0.050596133	0.07974	-2.14	0.03759	T	.	.	0.056	0.00452	B	.	.	0.625809	0.09942	6.700	0.099271237724245051	0.00113	0.09050	0.14882	N	AEFDBHI	0.027810	0.02338	N	-1.43114065351808	0.02369	0.1045401	-1.2835337126089	0.04653	0.2199606	0.0820785034427064	0.15891	0.706298	0.61202	0	0.633656	0.55848	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	3.25	-0.19	0.12605	0.931000	0.28471	2.231000	0.31532	-1.077000	0.01579	0.778000	0.29449	1.000000	0.68203	0.082000	0.17360	0.2155:0.1701:0.6144:0.0	5.229	0.14734	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	310.11	235	chr17	18727721	.	C	G	310.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=7.21;DP=1670;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=55.97;MQRankSum=-7.635e+00;QD=0.60;ReadPosRankSum=-9.970e-01;SOR=0.622	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	19	0	2	0
chr17	18766830	18766830	G	A	exonic	FBXW10	.	nonsynonymous SNV	FBXW10:NM_001267585:exon9:c.G1672A:p.V558M	.	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	U	0.742	D	2.265	M	1.95	T	-0.801	T	0.117	T	0.553	1.247	10.06	3.09	1.570	3.322	8.097	0.211	0.0474623074376	0.0008	0.000199681	0.0007	0	0.0003	0	0	0.0011	0	0.0009	5.17e-05	8	154602	rs144460161	0.0005	0.0005	0.0005	0.0006	0.0042	0.0005	0.0005	0.0029	0.0024	0.0001	0.0002	0.0026	0	0	0.0042	0.0005	0.0006	0.0005	0.0004	0.0004	0.0003	0.0005	0.0008	0.0003	0.0003	0.0004	0.0004	4.814e-05	0	0.0001	0.0037	0	0	0	0.0006	0	0.0008	0.002	0.72154	D	0.0	0.92824	D	0.999	0.90584	D	0.994	0.92359	D	0.000092	0.51296	U	0.074181	0.741745	0.33830	D	3.025	0.86340	M	1.95	0.22474	T	-2.05	0.50830	N	0.711	0.71410	-0.8013	0.55068	T	0.117	0.41253	T	10	0.06300336	0.08141	T	0.047462	0.62934	D	0.211	0.50185	.	.	0.0482279557977	0.04254	0.4711091959580471	0.47029	.	.	0.572771668434	0.49068	T	0.034284	0.23258	T	-0.318372	0.07031	T	-0.30551	0.44139	T	0.164022716940132	0.18164	T	0.841416	0.52967	T	0.17232391	0.37917	0.22916025	0.47980	0.17232391	0.37917	0.22916025	0.47979	-10.476	0.77874	D	.	.	0.463	0.75957	A	.;.;.	.;.;.	4.246259	0.64416	24.7	0.99812249358135352	0.89620	0.67168	0.33335	D	AEFGI	0.283029	0.39623	N	0.298219438259982	0.56058	3.770106	0.146726655066066	0.46969	2.934333	2.22675550138803E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	3.09	3.09	0.34677	3.952000	0.56399	9.896000	0.82311	0.254000	0.18348	1.000000	0.71638	1.000000	0.68203	0.638000	0.32368	0.0:0.2513:0.7487:0.0	8.097	0.29994	735	0.53711	WD40-repeat-containing domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1514.98	33	chr17	18766830	.	G	A	1514.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.81;DP=816;ExcessHet=0.0000;FS=4.637;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=45.00;MQRankSum=2.38;QD=11.84;ReadPosRankSum=-1.293e+00;SOR=1.140	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1302	20	0	1	0
chr17	18772489	18772489	C	T	exonic	FBXW10	.	nonsynonymous SNV	FBXW10:NM_001267586:exon11:c.C1925T:p.T642M	.	.	430	1073	14	5	0	24	0.0110599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.833	P	0.109	B	0.015	U	1.000	N	0	N	0.4	T	-0.991	T	0.046	T	0.098	0.915	8.725	-5.49	-0.586	-0.375	2.437	0.060	.	0.0071	0.00119808	0.0074	0.0016	0.0040	0.0001	0.0065	0.0112	0.0132	0.0021	0.0069663	1077	154602	rs150329747	0.0087	0.0088	0.0089	0.0086	0.0101	0.0086	0.0086	0.0099	0.0099	0.0018	0.0036	0.0137	0.0002	0.0060	0.0049	0.0101	0.0081	0.0019	0.0065	0.0065	0.0071	0.0059	0.0109	0.0061	0.0060	0.0102	0.0100	0.0018	0.0044	0.0024	0.0153	0	0.0047	0.0034	0.0109	0.0052	0.0027	0.097	0.31088	T	0.105	0.38160	T	0.53	0.46172	P	0.035	0.31370	B	0.014875	0.01402	U	4.344430	1	0.08975	N	0	0.06538	N	0.35	0.59983	T	-1.29	0.35597	N	0.161	0.23884	-0.9906	0.32449	T	0.046	0.19559	T	10	0.005772084	0.00129	T	.	.	.	0.060	0.17295	.	.	0.0138822411134	0.00435	0.18173062683297633	0.18092	.	.	0.297576367855	0.10041	T	0.003381	0.02788	T	-0.602469	0.00141	T	-0.627793	0.10582	T	0.00719906712202938	0.00082	T	0.423358	0.11306	T	0.01666958	0.00214	0.027029827	0.00827	0.01666958	0.00213	0.027029827	0.00827	-5.048	0.37357	T	.	.	0.078	0.06803	B	.;.;.	.;.;.	0.066611	0.04760	1.382	0.84772125039404311	0.15488	0.02753	0.07439	N	AEFBI	0.054084	0.09803	N	-1.37356261184012	0.02887	0.1281773	-1.49044872290491	0.02422	0.1113722	8.42159322340843E-5	0.04703	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.61	-5.49	0.02381	-0.561000	0.06048	0.033000	0.13759	-2.022000	0.00435	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1019:0.2949:0.1678:0.4353	2.437	0.04212	735	0.53711	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	899.98	33	chr17	18772489	.	C	T	899.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.337;DP=746;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.25;ReadPosRankSum=-7.230e-01;SOR=0.610	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1024	20	0	1	0
chr17	18971142	18971142	A	G	exonic	SLC5A10	.	nonsynonymous SNV	SLC5A10:NM_001270648:exon7:c.A689G:p.H230R	.	.	422	1096	4	0	0	4	0.00182149	.	.	2347212	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.3	T	0.0	B	0.0	B	0.413	N	1.000	N	0.205	N	-2.27	D	-0.738	T	0.377	T	0.123	2.333	13.76	-3.07	-0.114	0.521	10.167	0.270	0.0128372705209	0.0002	0.000199681	0.0002	0.0002	0	0	0	0.0003	0	0	0.0001423	22	154602	rs199714461	0.0001	0.0001	0.0001	0.0001	0.0054	0.0001	0.0001	0.0039	0.0034	2.987e-05	0.0002	0.0034	0	0	0.0054	2.608e-05	0.0004	2.319e-05	0.0001	0.0001	0.0002	5.372e-05	7.352e-05	8.165e-05	6.722e-05	2.847e-05	1.859e-05	2.406e-05	0	6.533e-05	0.0029	0	0	0.0068	7.352e-05	0	0	0.21	0.31987	T	0.269	0.22828	T	0.0	0.02946	B	0.0	0.01387	B	0.412649	0.04601	N	1.330460	0.999939	0.19363	N	0.345	0.11182	N	-2.27	0.87433	D	-1.07	0.28084	N	0.252	0.31814	-0.7375	0.58581	T	0.377	0.73475	T	10	0.012058705	0.00261	T	0.012837	0.31760	T	0.270	0.58507	.	.	0.195762928549	0.19159	0.640252271029492	0.63960	0.251914101704	0.27763	0.259052067995	0.04779	T	0.029091	0.20925	T	-0.294888	0.09152	T	-0.392063	0.34309	T	0.00414321207235039	0.00044	T	0.658334	0.33361	T	0.051676396	0.09526	0.06651834	0.13637	0.051676396	0.09525	0.06651834	0.13636	-0.236	0.03304	T	.	.	0.056	0.01252	B	.;.;.;.;.	.;.;.;.;.	1.558434	0.19968	14.52	0.90782149240298504	0.20031	0.20243	0.20968	N	AEFGBCI	0.240913	0.36262	N	-0.974804308140899	0.09144	0.4315642	-0.939672995062582	0.11163	0.5670469	0.984000026302463	0.30648	0.631515	0.41029	0	0.577304	0.33150	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	5.97	-3.07	0.05038	0.507000	0.22383	0.155000	0.15338	0.749000	0.86810	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.2208:0.5339:0.0:0.2453	10.167	0.42064	819	0.41190	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1546.98	35	chr17	18971142	.	A	G	1546.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.250e-01;DP=852;ExcessHet=0.0000;FS=0.609;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.45;ReadPosRankSum=0.322;SOR=0.623	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1219	20	0	1	0
chr17	18971694	18971694	C	T	exonic	FAM83G	.	nonsynonymous SNV	FAM83G:NM_001039999:exon6:c.G2137A:p.G713S,	.	.	416	1101	3	2	0	7	0.00316885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.127	B	0.005	B	0.125	N	1.000	N	0.14	N	2.86	T	-1.000	T	0.016	T	0.277	-0.072	3.646	1.33	0.741	0.329	6.638	0.030	.	8.1e-05	0.0061901	0.0037	0.0001	0.0003	0	0.0039	0.0002	0.0046	0.0270	0.0030853	477	154602	rs202158023	0.0017	0.0017	0.0011	0.0024	0.0242	0.0017	0.0016	0.0233	0.0230	3.007e-05	9.08e-05	0	5.062e-05	0.0044	0.0016	5.152e-05	0.0018	0.0242	0.0013	0.0013	0.0006	0.0021	0.0261	0.0012	0.0011	0.0224	0.0210	7.221e-05	0	0.0001	0	0	0.0060	0	0.0001	0	0.0261	0.04	0.42199	D	0.237	0.24621	T	0.127	0.26966	B	0.005	0.11217	B	0.125212	0.02761	N	1.727610	1	0.08975	N	1.175	0.29870	L	2.86	0.10482	T	0.17	0.05125	N	0.033	0.04547	-1.0004	0.29803	T	0.016	0.06711	T	10	0.0021157265	0.00030	T	.	.	.	0.030	0.07022	.	.	0.0666544352282	0.05500	0.1645188718669416	0.16371	0.181728394635	0.20427	0.342059642076	0.16747	T	0.00427	0.03680	T	-0.595044	0.00156	T	-0.609263	0.12045	T	0.00671639656936439	0.00075	T	0.442956	0.12306	T	0.02617373	0.01642	0.049418524	0.07546	0.02617373	0.01642	0.049418524	0.07546	-3.392	0.14949	T	.	.	0.078	0.07036	B	.;.	.;.	0.943581	0.13196	9.695	0.69302167573058282	0.08929	0.02064	0.06155	N	AEFDBI	0.081102	0.16408	N	-0.906382924540523	0.10691	0.5121714	-0.89445900100411	0.12225	0.6275757	0.492303820420955	0.20874	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	3.85	1.33	0.20958	-1.051000	0.03618	0.023000	0.13619	-0.179000	0.10443	0.000000	0.06391	0.009000	0.19889	0.364000	0.25977	0.0:0.6318:0.0:0.3682	6.638	0.22089	819	0.41190	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	959.98	43	chr17	18971694	.	C	T	959.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=886;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.89;ReadPosRankSum=1.61;SOR=0.767	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1219	20	0	1	0
chr17	18976897	18976897	C	A	exonic	SLC5A10	.	nonsynonymous SNV	SLC5A10:NM_001270648:exon8:c.C809A:p.A270D	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	4.06	H	-2.71	D	1.089	D	0.946	D	0.88	4.738	26.4	5.97	2.837	3.162	16.656	0.806	0.356693475671	.	.	1.658e-05	0	0	0	0	1.512e-05	0	6.057e-05	1.94e-05	3	154602	rs754854911	9.58e-06	9.577e-06	8.17e-06	1.1e-05	6.956e-05	5.56e-06	4.35e-06	2.995e-05	2.038e-05	0	0	0	0	0	0	5.396e-06	3.312e-05	6.956e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.001	0.83351	D	1.0	0.90584	D	0.995	0.84481	D	0.000001	0.84330	D	0.055382	1	0.81001	D	3.76	0.95097	H	-3.43	0.94388	D	-4.94	0.83092	D	0.791	0.81559	1.089	0.99180	D	0.946	0.98236	D	10	0.9413934	0.93465	D	0.356693	0.92408	D	0.806	0.93699	0.766	0.89373	0.719357592166	0.71688	0.9755322869752482	0.97543	0.951033788563	0.72625	0.60333275795	0.53374	T	0.431809	0.77979	T	0.381333	0.88795	D	0.49151	0.94449	D	0.987987637519836	0.78383	D	0.913009	0.68959	D	0.8769091	0.89415	0.9368212	0.97557	0.8769091	0.89417	0.9368212	0.97557	-14.008	0.97126	D	.	.	0.993	0.94980	P	.;.;.;.;.	.;.;.;.;.	4.985106	0.82600	27.8	0.9979444170274494	0.88017	0.98459	0.82997	D	AEFDGBI	0.597765	0.59142	D	0.964238732873482	0.94534	12.83301	0.881063960292559	0.94693	12.96482	0.999954486435682	0.48110	0.405899	0.06291	1	0.379588	0.06130	0	0.486962	0.07600	0	0.714379	0.83352	0	.	.	5.97	5.97	0.96935	3.964000	0.56488	5.973000	0.52033	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.583000	0.30967	0.1303:0.8697:0.0:0.0	16.656	0.85086	819	0.41190	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1251.98	47	chr17	18976897	.	C	A	1251.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.521;DP=816;ExcessHet=0.0000;FS=1.625;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=0.109;SOR=0.912	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1487	20	0	1	0
chr17	19020339	19020339	C	A	exonic	SLC5A10	.	nonsynonymous SNV	SLC5A10:NM_001270648:exon14:c.C1618A:p.P540T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.001	B	0.003	B	0.033	N	1.000	N	-0.815	N	-2.05	D	-0.565	T	0.375	T	0.235	0.736	7.911	0.165	-0.007	-0.406	5.202	0.273	0.124582608534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.18889	T	0.549	0.13252	T	0.001	0.07471	B	0.003	0.08700	B	0.033321	0.01769	N	1.847350	1	0.08975	N	1.65	0.42232	L	-2.63	0.90083	D	-0.62	0.31576	N	0.058	0.06190	-0.5645	0.66231	T	0.375	0.73295	T	10	0.06786239	0.09515	T	0.124583	0.80596	D	0.273	0.58883	0.26	0.20315	0.141422826196	0.13715	0.20572020954116207	0.20489	0.232667105056	0.25802	0.306960403919	0.11447	T	0.024068	0.18256	T	-0.00326333	0.51204	T	-0.242464	0.50558	T	0.224488452076912	0.21686	T	0.744526	0.36463	T	0.04788887	0.08261	0.06378925	0.12688	0.04788887	0.08261	0.06378925	0.12688	-4.632	0.32683	T	.	.	0.061	0.01715	B	.;.;.;.;.	.;.;.;.;.	0.113258	0.05123	1.651	0.74822744499419325	0.10840	0.19966	0.20864	N	AEFDBHCI	0.098295	0.19811	N	-1.36834022501454	0.02940	0.1305592	-1.32213845803655	0.04145	0.1948962	0.0038942988141265	0.10327	0.403107	0.06075	0	0.379588	0.06130	0	0.578056	0.29568	0	0.727631	0.95156	0	.	.	4.62	0.165	0.14282	-0.159000	0.10043	0.234000	0.16225	-0.186000	0.09761	0.000000	0.06391	0.002000	0.18203	0.147000	0.20199	0.0:0.3911:0.257:0.3519	5.202	0.14593	809	0.43032	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1106.98	38	chr17	19020339	.	C	A	1106.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.620e-01;DP=828;ExcessHet=0.0000;FS=4.489;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.71;ReadPosRankSum=-1.700e-01;SOR=0.900	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1091	20	0	1	0
chr17	19412596	19412596	G	A	exonic	RNF112	.	nonsynonymous SNV	RNF112:NM_007148:exon3:c.G194A:p.R65H,	.	.	395	1121	6	0	0	6	0.00266904	.	.	2386210	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283377846409	0.0003	0.000399361	0.0004	0.0001	0	0	0.0009	0.0006	0	0.0003	0.0003558	55	154602	rs201611770	0.0004	0.0004	0.0003	0.0004	0.0004	0.0003	0.0003	0.0003	0.0003	0.0002	2.239e-05	0.0010	0	0.0010	0	0.0004	0.0005	0.0002	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0003	7.23e-05	0	0	0.0006	0	0.0008	0	0.0004	0.0014	0.0002	0.095	0.31235	T	0.019	0.59159	D	0.011	0.15914	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.56	0.15190	N	3.16	0.86146	T	-1.69	0.40274	N	0.294	0.33250	.	.	.	.	.	.	.	0.06426346	0.08498	T	0.283378	0.90310	D	.	.	.	.	0.922216962878	0.92143	0.3186225038037663	0.31775	0.418609216857	0.42446	0.56143450737	0.47470	T	0.408137	0.76355	T	-0.330257	0.06092	T	-0.311923	0.43453	T	.	.	.	0.789521	0.42989	T	0.049536426	0.08809	0.057324916	0.10402	0.049536426	0.08809	0.057324916	0.10401	-9.028	0.67877	D	.	.	0.096	0.15564	B	.;.	.;.	2.606212	0.33840	19.46	0.99465171745771475	0.66049	0.00749	0.03116	N	AEFDBI	0.031588	0.03409	N	.	.	.	.	.	.	0.00158435717253497	0.08668	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.1	2.84	0.32241	0.019000	0.13337	2.220000	0.31442	0.676000	0.76740	0.000000	0.06391	0.059000	0.21998	0.982000	0.59238	0.4451:0.0:0.5549:0.0	4.757	0.12464	744	0.52588	Zinc finger, C3HC4 RING-type|Zinc finger, RING-type|Zinc finger, RING-type;Zinc finger, C3HC4 RING-type|Zinc finger, RING-type|Zinc finger, RING-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1708.98	33	chr17	19412596	.	G	A	1708.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.712;DP=823;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=-6.500e-02;SOR=0.671	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1093	20	0	1	0
chr17	19556021	19556021	G	A	exonic	SLC47A1	.	nonsynonymous SNV	SLC47A1:NM_018242:exon10:c.G880A:p.A294T,	.	.	425	1084	13	0	0	13	0.00596057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.924	D	0.000	D	1.000	D	2.39	M	0.69	T	-0.421	T	0.309	T	0.874	5.169	32	5.54	2.602	4.953	18.482	0.391	0.00982123049051	.	0.000399361	0.0004	0	0.0003	0.0001	0	5.996e-05	0	0.0025	0.0003363	52	154602	rs563267554	0.0002	0.0002	0.0001	0.0003	0.0023	0.0002	0.0002	0.0021	0.0020	5.974e-05	0.0002	0	2.519e-05	0	0.0021	3.417e-05	0.0003	0.0023	0.0002	0.0002	0.0001	0.0002	0.0033	0.0001	0.0001	0.0021	0.0017	0	0	0.0002	0	0	0	0	8.821e-05	0.0005	0.0033	0.043	0.72154	D	0.005	0.79402	D	0.998	0.73220	D	0.899	0.65913	P	0.000000	0.84330	D	0.047729	0.999757	0.81001	D	2.325	0.66631	M	0.69	0.51714	T	-3.71	0.71397	D	0.799	0.79503	-0.4206	0.71373	T	0.309	0.67922	T	10	0.03247279	0.01400	T	0.009821	0.25608	T	0.391	0.70684	.	.	0.503744809241	0.50012	0.34828586287911073	0.34742	0.676230404005	0.59750	0.470068246126	0.34689	T	0.042113	0.72332	T	-0.0938739	0.37437	T	0.0871427	0.76054	D	0.116827600588266	0.14117	T	0.915108	0.70943	D	0.64562225	0.75130	0.73879474	0.84561	0.64562225	0.75131	0.73879474	0.84562	-8.561	0.64832	D	.	.	0.225	0.45726	B	.;.;.;.	.;.;.;.	4.651044	0.74135	26.1	0.99935201548179953	0.99579	0.96624	0.70078	D	AEFBI	0.838485	0.75600	D	0.732492398779477	0.81761	7.598788	0.722333312599581	0.84074	8.191972	0.999706608641801	0.41986	0.638212	0.43195	0	0.610034	0.51514	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.54	5.54	0.82907	4.255000	0.58595	6.320000	0.55443	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:0.0:1.0:0.0	18.482	0.90766	617	0.66297	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	3128.66	43	chr17	19556021	.	G	A	3128.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.566;DP=889;ExcessHet=0.0000;FS=1.484;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=20.32;ReadPosRankSum=-1.338e+00;SOR=0.916	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	19	1	1	0
chr17	19571562	19571562	C	T	exonic	SLC47A1	.	nonsynonymous SNV	SLC47A1:NM_018242:exon15:c.C1394T:p.A465V,	.	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.729	P	0.413	B	0.001	D	1.000	D	1.335	L	1.48	T	-1.124	T	0.049	T	0.343	2.507	14.34	5.4	2.539	2.731	10.160	0.064	0.00417861372841	0.0065	0.00219649	0.0064	0.0018	0.0050	0	0.0059	0.0097	0.0033	0.0007	0.0065652	1015	154602	rs111653425	0.0095	0.0095	0.0100	0.0090	0.0113	0.0094	0.0093	0.0112	0.0111	0.0018	0.0059	0.0006	2.52e-05	0.0058	0.0009	0.0113	0.0098	0.0006	0.0059	0.0059	0.0062	0.0055	0.0096	0.0056	0.0054	0.0089	0.0087	0.0018	0.0219	0.0053	0.0003	0	0.0055	0	0.0096	0.0043	0.0004	0.438	0.09319	T	0.613	0.09144	T	0.1	0.42602	B	0.109	0.44885	B	0.000979	0.40836	D	0.273024	0.996431	0.81001	D	2.01	0.54746	M	1.48	0.31987	T	-2.66	0.56945	D	0.349	0.39659	-1.1237	0.02110	T	0.049	0.20711	T	10	0.007446736	0.00169	T	0.004179	0.10058	T	0.064	0.18567	.	.	0.549036597592	0.54559	0.27514524103482935	0.27427	0.41328724842	0.42041	0.358246982098	0.19130	T	0.503767	0.82312	D	-0.465065	0.00913	T	-0.430422	0.29889	T	0.021597868196475	0.00864	T	0.774523	0.40643	T	0.10909512	0.25793	0.13944328	0.33271	0.10909512	0.25793	0.13944328	0.33270	-5.642	0.43174	T	.	.	0.149	0.38552	B	.;.	.;.	3.110170	0.41948	21.4	0.99574040687578769	0.72561	0.79563	0.39450	D	AEFBI	0.728212	0.67631	D	0.0414721990685121	0.43750	2.661945	0.158228097817245	0.47579	2.986088	0.296472581643907	0.19143	0.615465	0.37627	0	0.610034	0.51514	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.4	5.4	0.77957	3.009000	0.49239	4.712000	0.44461	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.9096:0.0:0.0904	10.160	0.42024	613	0.66686	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1062.98	33	chr17	19571562	.	C	T	1062.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.49;DP=765;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=0.390;SOR=0.751	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1153	20	0	1	0
chr17	19651620	19651620	C	T	exonic	ALDH3A2	.	nonsynonymous SNV	ALDH3A2:NM_000382:exon2:c.C227T:p.P76L	Sjogren-Larsson syndrome, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.692	P	0.244	B	0.150	N	0.999	N	2.235	M	-0.95	T	-0.541	T	0.367	T	0.299	2.413	14.03	4.55	1.550	0.692	14.926	0.251	0.0401028175033	.	.	2.472e-05	0	0	0	0	1.499e-05	0	0.0001	1.94e-05	3	154602	rs754120524	4.104e-06	4.104e-06	0	8.25e-06	4.637e-05	1.48e-06	9.7e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	1.799e-06	0	4.637e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.40832	D	0.104	0.47097	T	0.49	0.41662	P	0.214	0.38795	B	0.150281	0.17991	N	0.614295	0.999749	0.20516	N	2.535	0.73915	M	-0.95	0.75438	T	-3.96	0.75935	D	0.509	0.54059	-0.5414	0.67110	T	0.367	0.72689	T	10	0.30176142	0.47716	T	0.040103	0.59190	D	0.251	0.56024	0.445	0.50302	0.895981450604	0.89494	0.5835450515123446	0.58283	0.314409667768	0.33727	0.353762984276	0.18475	T	0.310866	0.86968	T	-0.163852	0.26168	T	-0.29161	0.45605	T	0.477710396051407	0.31814	T	0.907509	0.67839	D	0.32434392	0.55004	0.22945112	0.48017	0.32434392	0.55004	0.22945112	0.48016	-6.928	0.53507	T	0.6872018912622236	0.76442	0.137	0.31330	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.173300	0.43041	21.7	0.97139307091369897	0.32534	0.42228	0.26832	N	AEFDBI	0.504303	0.53592	D	-0.00855080460601408	0.41468	2.480873	-0.00275976420071415	0.39591	2.34976	0.999998905047347	0.74766	0.643511	0.44296	0	0.662677	0.63036	0	0.723109	0.80598	0	0.631631	0.49550	0	.	.	5.53	4.55	0.55429	0.617000	0.24053	1.778000	0.28692	0.580000	0.29708	0.000000	0.06391	0.005000	0.19230	0.995000	0.73285	0.144:0.8559:0.0:0.0	14.926	0.70524	735	0.53711	Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;.;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;.;Aldehyde dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1784.98	35	chr17	19651620	.	C	T	1784.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.789;DP=838;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=-2.300e-02;SOR=0.718	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1481	20	0	1	0
chr17	19781088	19781088	C	T	exonic	ULK2	.	nonsynonymous SNV	ULK2:NM_001142610:exon24:c.G2656A:p.V886M	.	.	437	1054	29	2	0	33	0.0154134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.952	D	0.000	D	0.998	D	2.66	M	0.12	T	-0.159	T	0.389	T	0.729	4.525	24.4	4.59	1.346	5.628	13.261	0.347	.	0.0004	0.00479233	0.0025	0.0001	0.0004	0.0001	0	0.0006	0.0023	0.0153	0.0021474	332	154602	rs144113406	0.0013	0.0014	0.0009	0.0018	0.0156	0.0013	0.0013	0.0149	0.0146	0.0001	0.0004	0.0020	7.559e-05	0	0.0080	0.0003	0.0020	0.0156	0.0009	0.0009	0.0007	0.0011	0.0133	0.0007	0.0007	0.0107	0.0097	9.63e-05	0	0.0010	0.0037	0	0	0.0034	0.0005	0.0009	0.0133	0.001	0.78490	D	0.002	0.79402	D	0.997	0.70673	D	0.952	0.69102	D	0.000001	0.62929	D	0.056890	0.997719	0.44125	D	2.84	0.82582	M	0.12	0.61089	T	-2.43	0.53258	N	0.816	0.81162	-0.1587	0.78703	T	0.389	0.74349	T	10	0.013559639	0.00287	T	.	.	.	0.347	0.66863	.	.	0.706734743634	0.70418	0.5337172624296187	0.53296	0.236486782114	0.26189	0.718232274055	0.69789	T	0.545477	0.84513	D	-0.182455	0.23372	T	-0.0231847	0.68819	D	0.0731839727523938	0.09091	T	0.978052	0.92224	D	0.4584746	0.64576	0.49385887	0.70726	0.47474658	0.65581	0.4857415	0.70235	-10.638	0.77636	D	0.6258194583218957	0.69467	0.679	0.72087	P	.;.	.;.	4.457085	0.69330	25.4	0.99887131665444384	0.96204	0.95362	0.64424	D	AEFDBIJ	0.458072	0.50925	N	0.705483667367468	0.79992	7.19652	0.651905145771825	0.78754	6.940084	0.969231725537818	0.29113	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.56	4.59	0.56297	5.748000	0.68333	5.896000	0.50824	0.529000	0.24592	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.9241:0.0:0.0759	13.261	0.59537	574	0.70151	Serine/threonine-protein kinase, C-terminal;Serine/threonine-protein kinase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	866.98	35	chr17	19781088	.	C	T	866.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=763;ExcessHet=0.0000;FS=3.333;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=-3.800e-01;SOR=1.220	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1278	20	0	1	0
chr17	19931844	19931844	A	C	exonic	AKAP10	.	nonsynonymous SNV	AKAP10:NM_007202:exon10:c.T1602G:p.D534E,	.	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.0	B	0.001	B	0.001	N	1.000	N	0.69	N	1.58	T	-1.019	T	0.029	T	0.05	-0.411	2.078	-11.2	-4.543	-2.216	10.590	0.029	0.00291149962007	.	0.000199681	4.12e-05	0	8.642e-05	0	0	5.996e-05	0	0	3.88e-05	6	154602	rs562498114	4.036e-05	4.378e-05	3.131e-05	4.95e-05	0.0002	3.179e-05	2.91e-05	3.977e-05	3.574e-05	0	0	0	0	0	0.0002	5.036e-05	3.312e-05	0	3.94e-05	3.937e-05	5.14e-05	2.686e-05	7.35e-05	1.715e-05	1.129e-05	2.846e-05	1.858e-05	0	0	6.539e-05	0	0	0	0	7.35e-05	0	0	0.693	0.04264	T	0.31	0.19721	T	0.0	0.02946	B	0.001	0.04355	B	0.000959	0.40932	N	0.270498	1	0.08975	N	1.06	0.26948	L	1.58	0.29085	T	0.09	0.05917	N	0.105	0.08925	-1.0189	0.24074	T	0.029	0.12409	T	10	0.02281779	0.00580	T	0.002911	0.06162	T	0.029	0.06676	0.229	0.15556	0.327401308167	0.32341	0.22685865104509895	0.22600	0.201259681279	0.22528	0.322355121374	0.13777	T	0.037334	0.24438	T	-0.528108	0.00394	T	-0.804685	0.01788	T	0.0255297240249596	0.01343	T	0.585041	0.21304	T	0.024227802	0.01234	0.027532224	0.00913	0.024227802	0.01234	0.027532224	0.00913	-2.614	0.06610	T	.	.	0.060	0.00890	B	.	.	-0.895419	0.00933	0.035	0.52858256862109931	0.04828	0.05257	0.11094	N	AEFBI	0.079913	0.16150	N	-1.93718685049766	0.00288	0.01234206	-2.07049239063164	0.00216	0.009517763	0.999987909804892	0.51787	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.6	-11.2	0.00099	-1.470000	0.02452	-2.976000	0.03175	-0.092000	0.16129	0.000000	0.06391	0.000000	0.08366	0.200000	0.21896	0.0981:0.3041:0.5247:0.0731	10.590	0.44496	588	0.69043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1990.98	33	chr17	19931844	.	A	C	1990.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.320e-01;DP=877;ExcessHet=0.0000;FS=2.551;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.88;ReadPosRankSum=0.824;SOR=0.527	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr17	20580343	20580343	G	A	exonic	CDRT15L2	.	nonsynonymous SNV	CDRT15L2:NM_001190790:exon2:c.G460A:p.A154T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	.	.	1.000	N	0.345	N	0.61	T	-1.002	T	0.076	T	0.129	1.584	11.25	0.118	0.191	0.793	.	0.025	0.00579380873963	.	0.000798722	0.0006	0	0	0	0	0	0	0.0091	0.0001537	4	26028	rs534598169	0.0002	0.0003	0.0001	0.0004	0.0045	0.0002	0.0002	0.0040	0.0039	0	3.557e-05	0	0	0	0	9.616e-07	0.0005	0.0045	0.0001	0.0001	3.866e-05	0.0002	0.0040	8.189e-05	6.742e-05	0.0026	0.0022	0	0	0	0	0	0	0	0	0	0.0040	0.037	0.43085	D	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	0.61	0.53516	T	-0.53	0.16393	N	0.095	0.07535	-1.0020	0.29342	T	0.076	0.30522	T	6	0.0065436065	0.00148	T	0.005794	0.15042	T	0.025	0.05312	0.172	0.07774	0.128392430309	0.12331	0.027921612407459682	0.02742	0.366516443346	0.38224	0.494933694601	0.38123	T	0.021651	0.16823	T	-0.56804	0.00227	T	-0.588871	0.13764	T	0.0373406756547776	0.03216	T	0.340966	0.07383	T	0.082654975	0.19050	0.13481048	0.32295	0.082654975	0.19050	0.13481048	0.32294	-4.255	0.27541	T	.	.	0.162	0.35767	B	.	.	0.980337	0.13579	10.11	0.98430521885979994	0.41386	0.00715	0.03020	N	AEFI	0.025842	0.01838	N	-0.816031084375537	0.12900	0.6318994	-1.01216250135827	0.09517	0.4739522	1.11536234223363E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.118	0.118	0.13972	1.140000	0.31128	0.861000	0.22228	0.254000	0.18348	0.102000	0.22834	0.002000	0.18203	0.009000	0.08673	.	.	.	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	543.98	45	chr17	20580343	.	G	A	543.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.420e+00;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=36.85;MQRankSum=-2.570e-01;QD=16.48;ReadPosRankSum=-1.874e+00;SOR=0.582	GT:AD:DP:GQ:PL	0/0:35,0:35:96:0,96,1440	20	0	1	0
chr17	21304480	21304480	A	T	exonic	MAP2K3	.	nonsynonymous SNV	MAP2K3:NM_002756:exon8:c.A536T:p.D179V	.	.	381	1110	31	0	0	31	0.0137717	.	.	727068	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.895	H	-3.16	D	0.979	D	0.944	D	0.968	4.142	21.4	3.9	0.747	7.345	10.597	0.847	0.464794937955	0.0005	.	0.0019	0	0.0014	0.0001	0	0.0010	0.0033	0.0090	0.0015718	243	154602	rs138917253	0.0006	0.0012	0.0004	0.0007	0.0079	0.0005	0.0005	0.0061	0.0054	0	0.0006	0.0043	0	0	0.0079	0.0002	0.0012	0.0044	0.0008	0.0009	0.0006	0.0010	0.0089	0.0007	0.0006	0.0068	0.0061	2.403e-05	0	0.0016	0.0055	0	0	0	0.0004	0.0019	0.0089	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.000000	1	0.81001	D	4.955	0.99831	H	-3.16	0.92996	D	-8.78	0.97757	D	0.969	0.98750	0.979	0.96843	D	0.944	0.98156	D	10	0.13991159	0.26598	T	0.464795	0.94577	D	0.847	0.95249	.	.	0.982758890268	0.98257	0.9652089549291394	0.96507	0.721303731507	0.62229	0.802632689476	0.82365	T	0.554346	0.84967	D	0.516752	0.94802	D	0.504502	0.94726	D	0.342278975922263	0.26714	T	0.998371	0.99212	D	0.96212345	0.97493	0.9379656	0.97633	0.96212345	0.97494	0.9379656	0.97633	-12.846	0.89281	D	.	.	1.0	0.99952	P	.;.;.;.	.;.;.;.	4.977128	0.82420	27.8	0.99416516453624582	0.63549	0.93551	0.58526	D	AEFDGBCI	0.925047	0.90398	D	0.891351639030804	0.91329	10.82895	0.722524506376995	0.84091	8.195875	0.999999998996492	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.98	3.9	0.44240	7.387000	0.79051	11.205000	0.89184	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.9237:0.0:0.0763:0.0	10.597	0.44533	814	0.42100	Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1129.98	93	chr17	21304480	.	A	T	1129.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=2188;ExcessHet=0.0000;FS=2.440;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.41;MQRankSum=0.769;QD=3.88;ReadPosRankSum=0.700;SOR=0.715	GT:AD:DP:GQ:PL	0/0:99,0:99:99:0,120,1800	20	0	1	0
chr17	21415358	21415358	C	T	exonic	KCNJ12	.	nonsynonymous SNV	KCNJ12:NM_021012:exon3:c.C16T:p.R6W,	.	.	387	1134	1	0	0	1	0.000440723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.986	D	0.040	U	1.000	D	1.905	M	0.03	T	-0.273	T	0.373	T	0.503	3.158	16.56	1.92	0.588	0.477	13.825	0.468	0.0769429119803	.	.	0.0004	0.0004	0	0.0005	0	0.0001	0	0.0019	0.0003428	53	154602	rs782819037	9.612e-05	0.0003	7.242e-05	0.0001	0.0009	8.272e-05	7.811e-05	0.0008	0.0007	0.0001	2.238e-05	0	0.0001	0	0.0003	3.778e-05	0.0001	0.0009	0.0002	0.0004	0.0002	0.0003	0.0025	0.0002	0.0002	0.0014	0.0011	0.0003	0	0.0001	0	0.0002	0	0	0.0001	0.0005	0.0025	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.986	0.76916	D	0.039897	0.24120	U	0.295815	0.999633	0.47961	D	2.85	0.82803	M	0.03	0.62183	T	-3.3	0.65858	D	0.519	0.66187	-0.2727	0.75738	T	0.373	0.73175	T	10	0.20611995	0.36862	T	0.076943	0.72652	D	0.468	0.76289	.	.	0.566263476786	0.56289	0.7827122592200036	0.78222	0.406438075735	0.41517	0.630226612091	0.57177	T	0.046739	0.27515	T	0.0441939	0.57593	T	-0.174295	0.57049	T	0.904336750507355	0.55777	D	0.876112	0.58827	D	0.47457573	0.65570	0.4012821	0.64641	0.47457573	0.65571	0.4012821	0.64641	-6.666	0.51554	T	.	.	0.206	0.44240	B	.;.	.;.	4.562965	0.71921	25.7	0.99810150184983093	0.89442	0.86434	0.45713	D	AEFDGBI	0.656639	0.62855	D	0.177295619030289	0.50109	3.204212	0.115782204112393	0.45355	2.800175	0.999991953472621	0.74766	0.403107	0.06075	0	0.578056	0.33634	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.33	1.92	0.24912	0.126000	0.15597	1.004000	0.23282	-0.322000	0.05848	0.979000	0.35152	0.999000	0.35428	0.936000	0.47498	0.5672:0.4328:0.0:0.0	13.825	0.62839	856	0.34373	Potassium channel, inwardly rectifying, Kir, N-terminal;Potassium channel, inwardly rectifying, Kir, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1767.98	292	chr17	21415358	.	C	T	1767.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.87;DP=6656;ExcessHet=0.0000;FS=1.630;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=51.16;MQRankSum=-7.056e+00;QD=4.94;ReadPosRankSum=0.331;SOR=0.807	GT:AD:DP:GQ:PL	0/0:345,0:345:99:0,120,1800	20	0	1	0
chr17	21415419	21415419	C	T	exonic	KCNJ12	.	nonsynonymous SNV	KCNJ12:NM_021012:exon3:c.C77T:p.S26L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.09	B	0.032	B	0.000	D	0.865	D	0	N	1.46	T	-1.059	T	0.047	T	0.238	2.844	15.47	5.33	2.506	4.941	19.026	0.056	0.00646703683005	.	.	9.924e-05	9.653e-05	0	0	0	0.0001	0	0.0002	.	.	.	rs782612333	5.475e-05	9.577e-05	4.63e-05	6.327e-05	6.71e-05	4.478e-05	4.149e-05	4.9e-05	4.484e-05	0	6.71e-05	0	2.519e-05	3.774e-05	0	6.116e-05	1.656e-05	5.798e-05	9.85e-05	0.0001	0.0001	8.064e-05	0.0002	6.003e-05	4.877e-05	0.0001	8.875e-05	2.411e-05	0	6.539e-05	0	0	0	0	0.0002	0	0	0.043	0.41364	D	0.488	0.11621	T	0.09	0.25173	B	0.032	0.22131	B	0.000213	0.47681	D	0.183705	0.864556	0.35449	D	0.425	0.12573	N	1.46	0.32238	T	-0.98	0.25986	N	0.061	0.22228	-1.0589	0.12032	T	0.047	0.20156	T	10	0.15987286	0.30028	T	0.006467	0.17043	T	0.056	0.15993	.	.	0.435371449458	0.43157	0.6261842366659136	0.62551	0.131672773862	0.14847	0.522273302078	0.41946	T	0.015069	0.12713	T	-0.131779	0.31208	T	-0.427068	0.30269	T	0.254327803850174	0.23066	T	0.959204	0.84623	D	0.6770482	0.76810	0.7309473	0.84102	0.6770482	0.76812	0.7309473	0.84103	-5.383	0.40756	T	.	.	0.086	0.11461	B	.;.	.;.	4.031096	0.59609	24.1	0.99791864586098777	0.87750	0.91070	0.52801	D	AEFDGBHI	0.664846	0.63387	D	-0.134107633318154	0.35912	2.068966	0.0802075332521814	0.43554	2.654784	0.999999999950567	0.74766	0.403107	0.06075	0	0.578056	0.33634	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.33	5.33	0.75683	4.992000	0.63624	6.002000	0.52504	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.746000	0.35646	0.0:1.0:0.0:0.0	19.026	0.92912	856	0.34373	Potassium channel, inwardly rectifying, Kir, N-terminal;Potassium channel, inwardly rectifying, Kir, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2234.98	292	chr17	21415419	.	C	T	2234.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.58;DP=6791;ExcessHet=0.0000;FS=1.370;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=49.86;MQRankSum=-5.967e+00;QD=4.26;ReadPosRankSum=-1.517e+00;SOR=0.547	GT:AD:DP:GQ:PL	0/0:345,0:345:99:0,120,1800	20	0	1	0
chr17	21415750	21415750	C	G	exonic	KCNJ12	.	nonsynonymous SNV	KCNJ12:NM_021012:exon3:c.C408G:p.F136L,	.	.	381	1118	23	0	0	23	0.0101815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	3.165	M	-4.71	D	1.098	D	0.966	D	0.948	4.955	28.8	5.23	2.448	5.956	18.791	0.958	0.545636291256	.	.	0.0002	0	8.654e-05	0	0	7.552e-05	0	0.0013	.	.	.	rs781875412	2.949e-05	0.0008	2.046e-05	3.863e-05	0.0009	2.222e-05	1.975e-05	0.0003	0.0002	0	4.48e-05	0.0001	0	0	0.0009	7.197e-06	6.646e-05	0.0002	0.0002	0.0006	0.0002	0.0003	0.0033	0.0002	0.0002	0.0021	0.0017	0	0	0.0002	0.0023	0	0	0	0.0001	0.0005	0.0033	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.48	0.92553	M	-4.71	0.98035	D	-5.88	0.88699	D	0.896	0.89577	1.098	0.99577	D	0.966	0.98927	D	10	0.85857594	0.85065	D	0.545636	0.95789	D	0.958	0.99315	0.927	0.98806	0.878391582298	0.87719	0.9717239762495926	0.97161	0.471099041256	0.46381	0.914981842041	0.97919	D	0.542138	0.84342	D	0.554816	0.95998	D	0.559178	0.95937	D	0.970819294452667	0.69087	D	0.944506	0.78979	D	0.6495103	0.75338	0.6813559	0.81274	0.6495103	0.75339	0.6813559	0.81275	-6.563	0.50770	T	.	.	0.997	0.96728	P	.;.	.;.	4.689164	0.75117	26.3	0.99871891625946685	0.94902	0.98578	0.84304	D	AEFDGBI	0.861279	0.77931	D	0.873581260021997	0.90406	10.38987	0.806051292425285	0.90211	10.30519	0.999999999999999	0.74766	0.646311	0.45356	0	0.578056	0.33634	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	5.23	5.23	0.72570	6.034000	0.70575	2.765000	0.34631	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.791	0.91939	856	0.34373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	492.98	200	chr17	21415750	.	C	G	492.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.665;DP=4726;ExcessHet=0.0000;FS=4.390;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=51.00;MQRankSum=-7.854e+00;QD=2.12;ReadPosRankSum=-6.960e-01;SOR=1.070	GT:AD:DP:GQ:PL	0/0:220,0:220:99:0,120,1800	20	0	1	0
chr17	21415779	21415779	A	G	exonic	KCNJ12	.	nonsynonymous SNV	KCNJ12:NM_021012:exon3:c.A437G:p.Y146C,	.	.	378	1122	22	0	0	22	0.00970874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.515	H	-5.12	D	1.068	D	0.978	D	0.868	3.957	20.2	5.32	2.019	9.171	15.280	0.963	0.459199930642	.	.	0.0002	0	0.0003	0	0	0.0001	0.0011	0.0009	.	.	.	rs782138834	6.172e-05	0.0009	4.501e-05	7.861e-05	0.0018	5.107e-05	4.727e-05	0.0010	0.0007	0	4.478e-05	0.0002	0	0	0.0018	1.439e-05	0.0001	0.0006	0.0003	0.0007	0.0003	0.0004	0.0044	0.0002	0.0002	0.0029	0.0025	0	0	0.0003	0.0032	0	0	0	0.0002	0.0005	0.0044	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.475	0.92503	M	-5.12	0.98731	D	-8.83	0.97830	D	0.972	0.98268	1.068	0.98541	D	0.978	0.99310	D	10	0.9367713	0.93006	D	0.459	0.94482	D	0.963	0.99463	.	.	0.806824881749	0.80501	0.9945135510146457	0.99448	0.509770243166	0.49108	0.874587655067	0.93218	D	0.682892	0.90706	D	0.539453	0.95452	D	0.537111	0.95385	D	0.997669994831085	0.92113	D	0.978802	0.92599	D	0.8941172	0.90863	0.7181423	0.83361	0.8941172	0.90864	0.7181423	0.83362	-10.462	0.76628	D	.	.	0.998	0.97160	P	.;.	.;.	5.412050	0.90588	31	0.99816643049989306	0.89973	0.98064	0.79293	D	AEFDGBI	0.951342	0.96581	D	0.964376757520922	0.94538	12.83714	0.886076537140839	0.94936	13.16848	0.999999999998906	0.74766	0.646311	0.45356	0	0.578056	0.33634	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	5.32	5.32	0.75377	9.158000	0.93873	11.264000	0.91177	0.749000	0.86810	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.280	0.73481	856	0.34373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	524.98	208	chr17	21415779	.	A	G	524.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.15;DP=4793;ExcessHet=0.0000;FS=1.346;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=48.63;MQRankSum=-7.542e+00;QD=2.12;ReadPosRankSum=-1.546e+00;SOR=0.815	GT:AD:DP:GQ:PL	0/0:237,0:237:99:0,120,1800	20	0	1	0
chr17	21702822	21702822	C	G	exonic	KCNJ18	.	nonsynonymous SNV	KCNJ18:NM_001194958:exon3:c.C36G:p.I12M,	.	.	421	1098	2	0	1	3	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.922e-07	6.84e-07	0	1.391e-06	1.174e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.174e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.013	0.63109	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.997843	0.44246	D	.	.	.	0.95	0.43279	T	-1.02	0.26843	N	0.537	0.56489	-0.8491	0.52031	T	0.164	0.50160	T	10	0.44617262	0.58410	T	0.017537	0.39279	T	.	.	0.747	0.87821	0.0401082797425	0.02173	0.45422506767292903	0.45340	.	.	0.721853613853	0.70316	T	0.021819	0.16927	T	0.0174067	0.54031	T	-0.212773	0.53430	T	0.969568729400635	0.68634	D	0.957504	0.83996	D	0.55510294	0.70239	0.42062184	0.66020	0.55510294	0.70240	0.42062184	0.66020	-3.195	0.12419	T	.	.	0.102	0.17827	B	.	.	1.595425	0.20400	14.73	0.99156922988941709	0.53987	0.16552	0.19442	N	AEFDGBI	.	.	.	-0.247607825978624	0.31199	1.74703	-0.414024530730025	0.24586	1.347111	0.999997639400312	0.74766	0.403107	0.06075	0	0.578056	0.33634	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.33	-3.27	0.04735	-2.104000	0.01428	-6.389000	0.01412	0.122000	0.17641	0.002000	0.15269	0.000000	0.08366	0.027000	0.12703	0.1485:0.4536:0.0:0.398	6.993	0.23946	840	0.37365	Potassium channel, inwardly rectifying, Kir, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1636.98	33	chr17	21702822	.	C	G	1636.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.50;DP=904;ExcessHet=0.0000;FS=5.798;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=50.00;MQRankSum=0.487;QD=9.63;ReadPosRankSum=0.820;SOR=1.142	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1224	20	0	1	0
chr17	21703540	21703540	G	A	exonic	KCNJ18	.	nonsynonymous SNV	KCNJ18:NM_001194958:exon3:c.G754A:p.D252N,	.	.	205	1307	10	0	0	10	0.00381098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1442997426	0.0019	0.0019	0.0019	0.0019	0.0019	0.0019	0.0018	0.0016	0.0016	0.0002	0.0005	0.0067	0	0.0090	0.0019	0.0017	0.0019	0.0013	0.0022	0.0022	0.0021	0.0024	0.0020	0.0020	0.0019	0.0018	0.0016	0.0003	0.0647	0.0008	0.0066	0	0.0081	0	0.0020	0.0014	0.0010	1.0	0.00964	T	0.994	0.02342	T	.	.	.	.	.	.	0.000001	0.84330	D	0.054033	0.98678	0.40486	D	.	.	.	-3.25	0.93532	D	2.28	0.00297	N	0.114	0.10198	-0.4136	0.71595	T	0.453	0.78609	T	10	0.0043029487	0.00087	T	0.02044	0.43035	T	.	.	.	.	0.12205267543	0.11705	0.2884625887677439	0.28759	.	.	0.807248353958	0.83070	D	0.258941	0.63015	T	-0.0419342	0.45661	T	-0.298012	0.44935	T	0.00638062166500839	0.00071	T	0.911809	0.68723	D	0.07261475	0.16165	0.075169444	0.16522	0.07261475	0.16165	0.075169444	0.16521	-5.485	0.41728	T	0.08982883176862748	0.05531	0.108	0.20274	B	.	.	2.208910	0.28181	17.71	0.95624748289150829	0.27398	0.85602	0.44752	D	AEFDGBI	.	.	.	-0.584844816369541	0.19403	1.015295	-0.380364863585788	0.25582	1.407783	0.999999990649256	0.74766	0.475244	0.09938	2	0.578056	0.33634	0	0.641878	0.46077	1	0.604944	0.38103	0	.	.	5.42	4.44	0.53164	0.667000	0.24794	2.256000	0.31725	0.123000	0.17643	0.253000	0.24879	0.994000	0.32194	0.679000	0.33513	0.0735:0.0:0.778:0.1485	9.037	0.35456	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4348.98	38	chr17	21703540	.	G	A	4348.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.170e-01;DP=2012;ExcessHet=0.0000;FS=15.075;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=41.96;MQRankSum=0.665;QD=11.51;ReadPosRankSum=0.784;SOR=0.855	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	20	0	1	0
chr17	27647035	27647035	G	T	exonic	LGALS9	.	nonsynonymous SNV	LGALS9:NM_001330163:exon8:c.G579T:p.M193I	.	.	434	1034	53	1	0	55	0.0259067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.001	B	0.006	B	0.706	N	1.000	N	0.55	N	3.85	T	-0.938	T	0.014	T	0.246	0.040	4.220	-2.32	-0.205	-0.270	3.724	0.025	.	0.0028	0.00858626	0.0070	0.0003	0.0029	0.0001	0.0024	0.0043	0.0077	0.0308	0.00641	991	154602	rs61736863	0.0047	0.0047	0.0036	0.0057	0.0307	0.0046	0.0045	0.0298	0.0294	0.0006	0.0030	0.0015	5.038e-05	0.0026	0.0243	0.0030	0.0052	0.0307	0.0037	0.0037	0.0032	0.0042	0.0338	0.0035	0.0034	0.0296	0.0280	0.0006	0	0.0033	0.0014	0	0.0028	0.0204	0.0041	0.0057	0.0338	1.0	0.03787	T	0.515	0.10643	T	0.0	0.02946	B	0.0	0.01387	B	0.705616	0.10057	N	0.874683	1	0.08975	N	0.805	0.20218	L	2.88	0.10291	T	-0.92	0.30555	N	0.087	0.10198	-0.9379	0.42947	T	0.014	0.05561	T	10	0.007870913	0.00179	T	.	.	.	0.025	0.05312	0.396	0.42262	0.117506650769	0.11410	0.21356275858387824	0.21272	0.428623133953	0.43178	0.377718806267	0.21933	T	0.057428	0.30565	T	-0.608484	0.00129	T	-0.623824	0.10888	T	0.00143451320405818	0.00014	T	0.717128	0.38135	T	0.24168785	0.47088	0.09407839	0.22253	0.24168785	0.47088	0.09407839	0.22252	-3.734	0.19821	T	.	.	0.213	0.49903	B	.;.;.;.;.	.;.;.;.;.	0.027789	0.04477	1.192	0.7052755038938161	0.09325	0.04884	0.10627	N	AEFDBI	0.042672	0.06650	N	-1.07995783123573	0.07013	0.324544	-1.1025804986439	0.07651	0.3729923	0.189229202955983	0.17978	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.31	-2.32	0.06360	-0.410000	0.07214	-2.454000	0.03734	0.612000	0.49041	0.191000	0.24200	0.000000	0.08366	0.026000	0.12556	0.5182:0.0:0.299:0.1828	3.724	0.07996	253	0.90069	Galectin, carbohydrate recognition domain;Galectin, carbohydrate recognition domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	11075.68	35	chr17	27647035	.	G	T	11075.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.540e-01;DP=1598;ExcessHet=0.3300;FS=0.524;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=59.99;MQRankSum=0.00;QD=11.71;ReadPosRankSum=0.147;SOR=0.745	GT:AD:DP:GQ:PL	0/1:169,163:332:99:4005,0,4182	18	0	3	0
chr17	27647416	27647416	G	A	exonic	LGALS9	.	nonsynonymous SNV	LGALS9:NM_002308:exon9:c.G809A:p.R270H	.	.	430	1089	2	1	0	4	0.00183318	.	.	704044	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.05	D	0.999	D	0.842	P	0.008	N	1.000	N	2.26	M	3.35	T	-1.100	T	0.013	T	0.418	3.970	20.3	0.236	0.197	-0.307	4.721	0.061	.	0.0006	0.00579073	0.0040	0.0004	0.0331	0.0066	0	0.0003	0.0022	0.0010	0.0039391	609	154602	rs142653327	0.0015	0.0015	0.0016	0.0013	0.0305	0.0014	0.0014	0.0291	0.0286	0.0005	0.0305	0.0024	0.0098	0.0001	0.0019	0.0001	0.0014	0.0010	0.0041	0.0041	0.0031	0.0052	0.0335	0.0038	0.0037	0.0311	0.0302	0.0004	0	0.0335	0.0035	0.0108	9.429e-05	0	0.0002	0.0033	0.0010	0.01	0.56456	D	0.071	0.43531	T	0.999	0.77913	D	0.842	0.60272	P	0.007997	0.31082	N	0.236862	1	0.08975	N	2.345	0.67358	M	3.35	0.05989	T	-3.06	0.63090	D	0.363	0.45709	-1.0997	0.04128	T	0.013	0.04843	T	10	0.012150496	0.00262	T	.	.	.	0.061	0.17616	.	.	0.429552544315	0.42571	0.41644992206007625	0.41560	0.521965020797	0.49944	0.291941046715	0.09205	T	0.183272	0.53556	T	-0.525508	0.00408	T	-0.503257	0.22011	T	0.0365202561198691	0.03072	T	0.892111	0.62800	D	0.16081491	0.36048	0.098206066	0.23405	0.16081491	0.36048	0.098206066	0.23405	-7.821	0.59844	D	.	.	0.171	0.39168	B	.;.	.;.	1.802147	0.22907	15.81	0.99641057971214242	0.76695	0.05534	0.11427	N	AEFDBI	0.095333	0.19263	N	-0.396452422528355	0.25595	1.390574	-0.616004556071463	0.19082	1.022246	0.445178033432439	0.20489	0.706548	0.73137	0	0.702456	0.74545	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.69	0.236	0.14733	-0.445000	0.06918	-1.022000	0.06576	-0.645000	0.04412	0.000000	0.06391	0.000000	0.08366	0.048000	0.15020	0.2663:0.2979:0.4358:0.0	4.721	0.12296	256	0.89942	Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain;Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1830.98	38	chr17	27647416	.	G	A	1830.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.288;DP=920;ExcessHet=0.0000;FS=1.366;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.72;ReadPosRankSum=-1.400e-02;SOR=0.575	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,108,1620	20	0	1	0
chr17	27764058	27764058	T	-	exonic	NOS2	.	frameshift deletion	NOS2:NM_000625:exon21:c.2515delA:p.T839Pfs*45,	.	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.988e-05	0.0007	9.111e-05	0	0	1.598e-05	0	0	0.0001537	4	26028	rs780039206	4.997e-05	0.0002	5.177e-05	4.816e-05	0.0012	4.062e-05	3.737e-05	0.0009	0.0008	0.0012	0.0002	0	7.573e-05	0	0.0005	9.896e-06	0.0001	0	0.0003	0.0009	0.0003	0.0004	0.0012	0.0003	0.0002	0.0010	0.0009	0.0012	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	655.94	33	chr17	27764057	.	GT	G	655.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.348e+00;DP=733;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=50.38;MQRankSum=-5.625e+00;QD=13.96;ReadPosRankSum=1.37;SOR=0.622	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1313	20	0	1	0
chr17	28496480	28496480	G	A	exonic	SLC13A2	.	nonsynonymous SNV	SLC13A2:NM_001145975:exon11:c.G1648A:p.V550I	.	.	400	1120	2	0	0	2	0.000892061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.826	P	0.32	B	0.000	N	1.000	D	1.03	L	4.04	T	-0.754	T	0.007	T	0.208	2.097	12.97	4.57	1.343	3.789	10.231	0.095	0.00834960002313	0.0016	0.00179712	0.0004	0.0049	0	0	0	1.503e-05	0.0011	0	0.000401	62	154602	rs149423247	0.0002	0.0002	0.0002	0.0002	0.0069	0.0002	0.0002	0.0061	0.0058	0.0069	0.0002	0	2.533e-05	0	0.0005	4.234e-05	0.0005	4.655e-05	0.0015	0.0015	0.0015	0.0015	0.0052	0.0014	0.0013	0.0046	0.0044	0.0052	0	0.0003	0	0	0	0	7.352e-05	0.0019	0.0002	0.513	0.10623	T	0.764	0.04571	T	0.649	0.40609	P	0.272	0.39956	B	0.000016	0.62929	N	0.115071	0.999857	0.49910	D	0.95	0.23787	L	4.04	0.03121	T	-0.45	0.14782	N	0.266	0.30118	-0.7538	0.57736	T	0.007	0.02598	T	10	0.008839399	0.00200	T	0.00835	0.22105	T	0.095	0.27398	.	.	0.130388298395	0.12655	0.563346317858115	0.56261	0.407547590228	0.41615	0.52050280571	0.41697	T	0.045584	0.27166	T	-0.531	0.00379	T	-0.534568	0.18833	T	0.10989507263741	0.13412	T	0.783522	0.43364	T	0.08286579	0.19110	0.098743625	0.23552	0.08286579	0.19110	0.098743625	0.23552	-3.363	0.15656	T	.	.	0.088	0.11558	B	.;.	.;.	2.267897	0.28984	17.98	0.96082842581517114	0.28659	0.93460	0.58276	D	AEFDGBHI	0.502253	0.53475	D	0.0881748865458003	0.45912	2.839893	0.203955976076411	0.50067	3.202644	0.999986334131655	0.51787	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.54	4.57	0.55860	4.064000	0.57221	0.689000	0.20746	0.676000	0.76740	1.000000	0.71638	0.092000	0.22550	0.986000	0.61781	0.1497:0.0:0.8503:0.0	10.231	0.42435	152	0.94023	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1419.98	33	chr17	28496480	.	G	A	1419.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.89;DP=823;ExcessHet=0.0000;FS=3.437;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=-8.140e-01;SOR=0.437	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1301	20	0	1	0
chr17	28524741	28524741	C	T	exonic	FOXN1	.	nonsynonymous SNV	FOXN1:NM_003593:exon2:c.C362T:p.A121V	T-cell immunodeficiency, congenital alopecia, and nail dystrophy, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	727081	T-cell_immunodeficiency,_congenital_alopecia,_and_nail_dystrophy|FOXN1-related_disorder	MONDO:MONDO:0011132,MedGen:C1866426,OMIM:601705,Orphanet:169095|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.47	T	0.0	B	0.0	B	0.893	N	1.000	N	0	N	-2.93	D	-0.642	T	0.426	T	0.1	0.864	8.500	-2.7	-0.350	-0.162	3.613	0.207	0.0240139439974	.	0.000599042	0.0005	0	9.289e-05	0	0	0	0.0013	0.0032	0.0003622	56	154602	rs557541901	0.0002	0.0002	0.0001	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	0	0	0	0	0	0.0007	7.197e-06	0.0002	0.0030	8.532e-05	8.529e-05	6.423e-05	0.0001	0.0027	4.952e-05	3.958e-05	0.0016	0.0013	0	0	0	0	0	0	0	0	0	0.0027	0.79	0.03201	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.892947	0.07307	N	1.051680	0.999996	0.08975	N	-0.895	0.01383	N	-2.93	0.91800	D	-0.31	0.12099	N	0.04	0.01421	-0.6425	0.63039	T	0.426	0.76930	T	10	0.0043040216	0.00087	T	0.024014	0.47001	T	0.207	0.49555	0.302	0.27003	0.220282294035	0.21616	0.07891657928715783	0.07826	0.142915156258	0.16124	0.293551087379	0.09442	T	0.19183	0.54680	T	-0.420646	0.01694	T	-0.380997	0.35606	T	0.0218604686198882	0.00893	T	0.149985	0.01257	T	0.033854887	0.03686	0.049713943	0.07653	0.03463723	0.03924	0.06498895	0.13105	-4.547	0.31498	T	0.09217786766913112	0.05928	0.059	0.01290	B	.;.	.;.	1.066292	0.14482	11.05	0.84350167853480496	0.15240	0.04033	0.09471	N	AEFGBCI	0.023063	0.01235	N	-1.12426662951459	0.06214	0.2854425	-1.02487346746542	0.09239	0.4585508	0.99996456375352	0.48965	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.49	-2.7	0.05651	0.050000	0.14004	0.581000	0.19707	-0.114000	0.14653	0.405000	0.26210	0.773000	0.26716	0.960000	0.51673	0.1314:0.4546:0.148:0.266	3.613	0.07611	152	0.94023	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1833.98	35	chr17	28524741	.	C	T	1833.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.154e+00;DP=864;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.16;ReadPosRankSum=0.515;SOR=0.745	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr17	28561545	28561545	G	A	exonic	PIGS	.	nonsynonymous SNV	PIGS:NM_033198:exon6:c.C553T:p.R185C,	.	.	433	1085	4	0	0	4	0.00183993	.	.	1326237	PIGS-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.08	T	0.998	D	0.863	P	0.005	N	0.991	N	2.015	M	0.88	T	-0.946	T	0.137	T	0.571	3.724	18.91	4.17	1.486	2.701	8.859	0.233	.	0.0042	0.00119808	0.0056	0.0006	0.0124	0.0006	0.0076	0.0065	0.0011	0.0024	0.0050581	782	154602	rs143746801	0.0053	0.0053	0.0055	0.0052	0.0087	0.0052	0.0052	0.0080	0.0077	0.0009	0.0087	0.0028	0.0004	0.0072	0.0005	0.0058	0.0041	0.0026	0.0035	0.0035	0.0038	0.0032	0.0054	0.0033	0.0032	0.0049	0.0048	0.0010	0	0.0033	0.0023	0	0.0053	0	0.0054	0.0014	0.0027	0.001	0.78490	D	0.128	0.35082	T	0.998	0.73220	D	0.785	0.61398	P	0.004622	0.33547	N	0.337870	0.991442	0.24033	N	2.395	0.69210	M	0.88	0.46028	T	-3.14	0.64019	D	0.721	0.72299	-0.9462	0.41615	T	0.137	0.45318	T	10	0.012041628	0.00260	T	.	.	.	0.233	0.53499	.	.	0.618427470952	0.61534	0.544840223362874	0.54410	0.730018590898	0.62692	0.419381976128	0.27752	T	0.117479	0.43759	T	-0.369236	0.03633	T	-0.295197	0.45229	T	0.02401332180891	0.01147	T	0.913709	0.69301	D	0.19134527	0.40757	0.12873319	0.30967	0.18400383	0.39694	0.13335596	0.31978	-4.803	0.34708	T	0.3825013218402435	0.47673	0.270	0.50426	B	.;.	.;.	4.902244	0.80590	27.4	0.99912642780067473	0.98167	0.55276	0.29823	D	AEFBI	0.329218	0.42963	N	0.311424033798745	0.56734	3.838671	0.224440782793481	0.51206	3.305241	0.0694970794657498	0.15492	0.744818	0.98587	0	0.724815	0.89359	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.14	4.17	0.48303	2.107000	0.41468	8.320000	0.76961	0.672000	0.70159	0.248000	0.24829	1.000000	0.68203	0.993000	0.69303	0.0773:0.0:0.7737:0.149	8.859	0.34403	320	0.86992	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1269.98	33	chr17	28561545	.	G	A	1269.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=828;ExcessHet=0.0000;FS=2.092;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.47;ReadPosRankSum=-1.256e+00;SOR=0.853	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1055	20	0	1	0
chr17	28573806	28573806	C	A	exonic	ALDOC	.	nonsynonymous SNV	ALDOC:NM_005165:exon8:c.G928T:p.A310S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.835	P	0.612	P	0.000	D	1.000	D	2.375	M	-2.08	D	0.573	D	0.719	D	0.565	4.828	27.4	5.46	2.573	7.818	18.081	0.707	0.124753547716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.045	0.49390	D	0.835	0.46254	P	0.612	0.51145	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.525	0.93020	H	-2.08	0.86010	D	-1.52	0.40468	N	0.636	0.66873	0.573	0.91540	D	0.719	0.90368	D	10	0.6705802	0.70688	D	0.124754	0.80616	D	0.707	0.89514	0.687	0.82462	0.834950330142	0.83337	0.6543212693654827	0.65368	1.13268092877	0.78672	0.735446333885	0.72303	T	0.343928	0.94791	T	0.182694	0.72290	D	0.0246509	0.71931	D	0.964805245399475	0.67070	D	0.946505	0.79612	D	0.8404499	0.86640	0.7774078	0.86870	0.8404499	0.86641	0.7774078	0.86871	-7.603	0.58332	D	.	.	0.26	0.49470	B	.;.;.	.;.;.	3.981378	0.58534	24.0	0.99735477746767009	0.83119	0.99028	0.90173	D	AEFBI	0.962194	0.98371	D	0.511578215888401	0.67774	5.126629	0.583718578075741	0.73772	6.025599	0.999999999999972	0.74766	0.706298	0.61202	0	0.697927	0.68747	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.46	5.46	0.80021	7.905000	0.86479	7.722000	0.67351	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	18.081	0.89370	267	0.89517	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1229.98	41	chr17	28573806	.	C	A	1229.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.019e+00;DP=802;ExcessHet=0.0000;FS=1.675;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=-9.960e-01;SOR=0.527	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1205	20	0	1	0
chr17	28584197	28584197	G	T	exonic	SPAG5	.	nonsynonymous SNV	SPAG5:NM_006461:exon13:c.C2365A:p.Q789K,	.	.	415	1093	14	0	0	14	0.00636364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.023	B	0.011	B	0.108	N	0.996	N	0.625	N	.	.	-1.056	T	0.046	T	0.286	3.046	16.16	2.84	0.823	1.799	7.785	0.010	0.00223143982755	0.0007	0.000798722	0.0009	9.61e-05	0.0016	0	0	0.0012	0.0033	0.0004	0.0008667	134	154602	rs150901596	0.0007	0.0007	0.0007	0.0007	0.0121	0.0007	0.0007	0.0099	0.0090	0.0002	0.0016	0.0097	0	1.881e-05	0.0121	0.0004	0.0016	0.0009	0.0007	0.0007	0.0007	0.0007	0.0025	0.0006	0.0006	0.0019	0.0017	4.809e-05	0	0.0025	0.0095	0	0	0.0170	0.0004	0.0019	0.0004	0.098	0.30800	T	0.321	0.19073	T	0.023	0.18885	B	0.011	0.15521	B	0.108278	0.19534	N	0.481200	0.995965	0.23152	N	0.625	0.15840	N	.	.	.	-0.61	0.21003	N	0.293	0.33140	-1.0558	0.12829	T	0.046	0.19760	T	9	0.003987521	0.00077	T	0.002231	0.04233	T	0.010	0.01040	.	.	0.0920862733494	0.08535	0.27969944607115554	0.27882	0.536506915969	0.50979	0.340952396393	0.16581	T	0.155677	0.49752	T	-0.418143	0.01758	T	-0.392424	0.34269	T	0.0160841023924126	0.00386	T	0.59944	0.22338	T	0.06921384	0.15145	0.077029996	0.17119	0.06921384	0.15145	0.077029996	0.17119	-4.169	0.26301	T	.	.	0.098	0.16319	B	.;.	.;.	1.650894	0.21061	15.03	0.98299253940131293	0.40030	0.79716	0.39556	D	AEFDBCI	0.190058	0.31730	N	-0.296573518047313	0.29281	1.62237	-0.117355575541646	0.34691	1.998334	0.00647168385539613	0.11227	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.02	2.84	0.32241	1.957000	0.40017	5.006000	0.46633	0.676000	0.76740	0.987000	0.36337	1.000000	0.68203	0.996000	0.76049	0.0777:0.0:0.6633:0.259	7.785	0.28249	245	0.90404	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1286.98	38	chr17	28584197	.	G	T	1286.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.323e+00;DP=853;ExcessHet=0.0000;FS=4.140;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.19;ReadPosRankSum=-2.169e+00;SOR=0.423	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1391	20	0	1	0
chr17	28592094	28592094	C	T	exonic	SPAG5	.	nonsynonymous SNV	SPAG5:NM_006461:exon3:c.G1150A:p.V384M,	.	.	426	1076	20	0	0	20	0.0092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.003	N	0.696	N	1.04	L	0.93	T	-0.814	T	0.124	T	0.449	2.766	15.21	4.37	1.389	1.878	11.131	0.179	.	0.0008	0.00219649	0.0012	0	0.0010	0	0	0.0005	0.0110	0.0055	0.0011255	174	154602	rs143027546	0.0006	0.0006	0.0004	0.0008	0.0081	0.0006	0.0006	0.0063	0.0056	2.987e-05	0.0005	0.0003	2.519e-05	1.872e-05	0.0081	0.0003	0.0010	0.0045	0.0006	0.0006	0.0006	0.0006	0.0041	0.0005	0.0005	0.0027	0.0023	9.634e-05	0	0.0017	0.0003	0	0	0.0204	0.0005	0.0005	0.0041	0.005	0.63226	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.002647	0.36173	N	0.122959	0.696155	0.30146	N	1.625	0.41611	L	0.93	0.44065	T	-1.06	0.27669	N	0.263	0.29774	-0.8139	0.54312	T	0.124	0.42799	T	10	0.010965079	0.00242	T	.	.	.	0.179	0.44899	.	.	0.616854986462	0.61376	0.22841272605531776	0.22756	0.400445151667	0.41042	0.426760196686	0.28765	T	0.248194	0.61795	T	-0.428417	0.01515	T	-0.386801	0.34926	T	0.0485543331539462	0.05243	T	0.859414	0.55137	D	0.0940571	0.22106	0.081144206	0.18418	0.0940571	0.22106	0.081144206	0.18417	-4.254	0.27527	T	.	.	0.148	0.32756	B	.	.	2.964414	0.39493	21.0	0.99883002757144201	0.95892	0.73354	0.35883	D	AEFBHCI	0.092057	0.18640	N	0.261943215208145	0.54233	3.589319	0.193538647594971	0.49491	3.151726	0.327593033170424	0.19451	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.34	4.37	0.51830	1.398000	0.34163	4.914000	0.45980	0.599000	0.40250	0.819000	0.29975	1.000000	0.68203	0.819000	0.38590	0.0:0.9137:0.0:0.0863	11.131	0.47568	232	0.90957	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1835.98	33	chr17	28592094	.	C	T	1835.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.300e+00;DP=888;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.19;ReadPosRankSum=0.351;SOR=0.707	GT:AD:DP:GQ:PL	0/1:88,76:164:99:1850,0,2360	20	0	1	0
chr17	28613589	28613589	G	A	exonic	RSKR	.	nonsynonymous SNV	RSKR:NM_001174103:exon2:c.C175T:p.R59W,	.	.	439	1063	20	0	0	20	0.00931966	.	.	3316818	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.017	B	0.003	B	0.851	N	1.000	N	0.695	N	1.14	T	-0.962	T	0.156	T	0.347	0.496	6.688	1.78	0.212	1.542	5.661	0.038	0.0231398134118	0.0007	0.000798722	0.0012	0	0.0007	0	0	0.0013	0.0033	0.0025	0.0010543	163	154602	rs145445550	0.0008	0.0008	0.0007	0.0009	0.0137	0.0008	0.0007	0.0113	0.0104	5.974e-05	0.0007	0.0085	0	1.872e-05	0.0137	0.0004	0.0018	0.0031	0.0007	0.0007	0.0007	0.0007	0.0041	0.0006	0.0006	0.0027	0.0023	9.629e-05	0	0.0005	0.0078	0	9.43e-05	0.0068	0.0007	0.0009	0.0041	0.057	0.43085	T	0.065	0.47581	T	.	.	.	.	.	.	0.851461	0.08959	N	0.923487	1	0.08975	N	.	.	.	-0.46	0.70014	T	-1.79	0.42191	N	0.286	0.33796	-0.9620	0.38800	T	0.156	0.48841	T	10	0.004371971	0.00089	T	0.02314	0.46083	T	0.038	0.09825	.	.	0.451599300725	0.44785	0.46210463325628254	0.46128	0.0916761220119	0.10349	.	.	.	.	.	.	-0.369602	0.03614	T	-0.307988	0.43875	T	0.0149468605264926	0.00319	T	0.711229	0.33361	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26138	B	.;.;.;.;.	.;.;.;.;.	2.424130	0.31176	18.66	0.94354184642090078	0.24707	0.14794	0.18588	N	AEFDGBHCI	0.235967	0.35848	N	-0.804347519278457	0.13198	0.648553	-0.801302666700953	0.14464	0.7558717	0.985928176138972	0.30973	0.650006	0.45971	0	0.577304	0.33150	0	0.606735	0.37207	0	0.636168	0.56350	0	.	.	5.0	1.78	0.23918	1.841000	0.38881	1.466000	0.26718	0.676000	0.76740	0.064000	0.21895	0.002000	0.18203	0.564000	0.30507	0.1698:0.0:0.674:0.1562	5.661	0.16945	224	0.91330	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1661.98	39	chr17	28613589	.	G	A	1661.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.57;DP=877;ExcessHet=0.0000;FS=1.333;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=0.386;SOR=0.830	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1244	20	0	1	0
chr17	28628319	28628319	G	A	exonic	KIAA0100	.	nonsynonymous SNV	KIAA0100:NM_001363826:exon23:c.C4111T:p.P1371S	.	.	419	1090	12	1	0	14	0.00638104	.	.	2811169	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.55	T	0.164	B	0.04	B	0.000	D	1.000	D	1.39	L	1.95	T	-1.094	T	0.032	T	0.183	2.064	12.86	5.41	2.549	3.582	15.084	0.043	0.00893461352932	0.0055	0.00119808	0.0047	0.0009	0.0013	0	0.0006	0.0078	0.0022	0.0011	0.0049482	765	154602	rs61743603	0.0067	0.0067	0.0067	0.0066	0.0078	0.0066	0.0065	0.0077	0.0076	0.0011	0.0021	0.0173	0	0.0011	0.0064	0.0078	0.0057	0.0007	0.0054	0.0054	0.0058	0.0051	0.0080	0.0051	0.0050	0.0075	0.0073	0.0011	0.1261	0.0029	0.0153	0	0.0008	0.0068	0.0080	0.0038	0.0004	0.091	0.33091	T	0.326	0.18789	T	0.164	0.28467	B	0.04	0.23831	B	0.000047	0.53742	D	0.168027	0.999713	0.51042	D	0.49	0.13296	N	1.95	0.22474	T	-1.21	0.30762	N	0.194	0.21319	-1.0944	0.04839	T	0.032	0.13679	T	10	0.0030865073	0.00051	T	0.008935	0.23535	T	0.043	0.11576	.	.	0.441324992753	0.43756	0.4061274438181041	0.40528	0.210862529731	0.23587	0.336153447628	0.15861	T	0.003711	0.06413	T	-0.551691	0.00285	T	-0.554211	0.16924	T	0.0223315727085183	0.00946	T	0.79922	0.44465	T	0.040861025	0.05912	0.06266524	0.12295	0.040861025	0.05912	0.06266524	0.12294	-2.988	0.10052	T	.	.	0.063	0.01408	B	.;.;.	.;.;.	2.193887	0.27977	17.64	0.99046071937428815	0.51140	0.98362	0.82008	D	AEFDBI	0.588541	0.58577	D	-0.118278019372548	0.36596	2.11754	0.0271024737614044	0.40977	2.454268	0.999997316058365	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.41	5.41	0.78313	1.400000	0.34186	1.487000	0.26862	0.672000	0.70159	0.974000	0.34632	0.981000	0.30433	0.699000	0.34110	0.0:0.1831:0.8169:0.0	15.084	0.71805	225	0.91282	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1253.98	41	chr17	28628319	.	G	A	1253.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.658e+00;DP=817;ExcessHet=0.0000;FS=9.467;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=1.19;SOR=0.455	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1194	20	0	1	0
chr17	28674562	28674562	T	G	exonic	SUPT6H	.	nonsynonymous SNV	SUPT6H:NM_003170:exon4:c.T294G:p.D98E	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.565	P	0.132	B	0.000	D	1.000	D	0.21	N	.	.	-1.015	T	0.055	T	0.443	0.617	7.322	5.91	2.252	0.573	10.444	0.188	0.00328366234783	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1454968195	2.736e-06	2.736e-06	1.361e-06	4.125e-06	0.0002	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.502	0.07695	T	0.298	0.20486	T	0.565	0.38434	P	0.132	0.33005	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.44	0.12706	N	.	.	.	-1.53	0.37178	N	0.381	0.42247	-1.0154	0.25207	T	0.055	0.23148	T	9	0.06918031	0.09891	T	0.003284	0.07268	T	0.188	0.46444	0.297	0.26202	0.209943299407	0.20609	0.01664796881510687	0.01619	0.582242392059	0.53989	0.784314036369	0.79580	T	0.131658	0.46128	T	-0.0401283	0.45930	T	-0.295418	0.45207	T	0.254623953462859	0.23078	T	0.778122	0.41194	T	0.17228843	0.37911	0.14155094	0.33705	0.17228843	0.37910	0.14155094	0.33704	-2.492	0.05727	T	.	.	0.441	0.61770	A	.;.	.;.	2.603118	0.33792	19.44	0.79588438785489612	0.12810	0.95500	0.64968	D	AEFDBCI	0.375232	0.45984	N	-0.199728220668377	0.33145	1.877202	0.00209364236605217	0.39812	2.366322	0.775781743756975	0.23750	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.91	5.91	0.95240	0.811000	0.26855	3.553000	0.39056	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1138:0.0:0.8862	10.444	0.43672	256	0.89942	Spt6 acidic, N-terminal domain;Spt6 acidic, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	961.98	34	chr17	28674562	.	T	G	961.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=784;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.34;ReadPosRankSum=0.526;SOR=0.784	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1419	20	0	1	0
chr17	28683349	28683349	C	A	exonic	SUPT6H	.	nonsynonymous SNV	SUPT6H:NM_003170:exon16:c.C1960A:p.L654I	.	.	427	1079	15	1	0	17	0.00781609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.988	D	0.695	P	0.000	D	1.000	D	1.735	L	-0.17	T	-0.518	T	0.307	T	0.79	3.283	17.02	5.21	2.708	2.759	18.934	0.254	0.0168656344412	0.0004	0.000798722	0.0007	0.0002	0.0003	0	0	0.0006	0.0011	0.0027	0.0006986	108	154602	rs141330818	0.0005	0.0005	0.0004	0.0006	0.0057	0.0005	0.0005	0.0042	0.0037	8.961e-05	8.944e-05	0.0003	0	5.616e-05	0.0057	0.0003	0.0010	0.0029	0.0006	0.0007	0.0006	0.0007	0.0033	0.0005	0.0005	0.0021	0.0017	9.625e-05	0.0307	0.0003	0.0003	0	0	0	0.0006	0.0009	0.0033	0.218	0.19090	T	0.246	0.23984	T	0.988	0.62325	D	0.695	0.53983	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.455	0.71248	M	-0.17	0.65563	T	-1.42	0.34992	N	0.85	0.84609	-0.5180	0.67989	T	0.307	0.67795	T	10	0.024487287	0.00675	T	0.016866	0.38326	T	0.254	0.56428	.	.	0.518009022472	0.51444	0.5230107651206027	0.52224	1.61380097712	0.88956	0.765939176083	0.76815	T	0.353115	0.72045	T	-0.172335	0.24881	T	-0.0236881	0.68787	D	0.127058178186417	0.15108	T	0.90061	0.65471	D	0.2382516	0.46701	0.21226041	0.45688	0.2382516	0.46701	0.21226041	0.45687	-10.15	0.74805	D	.	.	0.291	0.52227	B	.;.	.;.	3.760351	0.53956	23.4	0.99350505468094485	0.60574	0.93490	0.58359	D	AEFBCI	0.602556	0.59437	D	0.519913176184342	0.68268	5.193882	0.528584493479893	0.69923	5.429898	0.934179830466613	0.27159	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.21	5.21	0.72005	2.791000	0.47520	5.996000	0.52409	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	18.934	0.92551	252	0.90114	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1384.98	43	chr17	28683349	.	C	A	1384.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.170e-01;DP=1122;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=-9.200e-01;SOR=0.702	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1800	20	0	1	0
chr17	28695437	28695437	T	C	exonic	SUPT6H	.	nonsynonymous SNV	SUPT6H:NM_003170:exon29:c.T3860C:p.M1287T	.	.	.	.	.	.	.	.	.	.	.	2757554	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.41	T	0.006	B	0.006	B	0.000	D	1.000	D	1.245	L	.	.	-0.901	T	0.183	T	0.793	1.216	9.935	5.8	2.209	3.807	16.144	0.300	0.00274179428195	.	.	4.14e-05	0	0	0	0	6.021e-05	0	6.082e-05	3.88e-05	6	154602	rs765884890	6.088e-05	6.088e-05	5.309e-05	6.875e-05	0.0009	5.028e-05	4.671e-05	0.0003	0.0002	2.987e-05	0	3.826e-05	0	0	0.0009	6.745e-05	3.311e-05	5.797e-05	6.573e-05	6.568e-05	7.71e-05	5.382e-05	0.0001	3.518e-05	2.617e-05	7.908e-05	5.994e-05	0	0	0	0	0	0	0	0.0001	0	0	0.577	0.06049	T	0.493	0.11443	T	0.006	0.13644	B	0.006	0.12133	B	0.000000	0.84330	D	0.109676	0.999993	0.58761	D	1.355	0.33814	L	.	.	.	-1.31	0.32791	N	0.609	0.62611	-0.9011	0.47878	T	0.183	0.53179	T	9	0.16812873	0.31347	T	0.002742	0.05665	T	0.300	0.62068	0.445	0.50302	0.337947466952	0.33407	0.6474518780151852	0.64680	1.00554430503	0.74571	0.882410049438	0.94283	D	0.127029	0.45380	T	-0.0150727	0.49552	T	0.0098724	0.70974	D	0.0602771352881724	0.07212	T	0.931307	0.74459	D	0.35671076	0.57585	0.32667407	0.58572	0.35671076	0.57585	0.32667407	0.58571	-7.724	0.59174	D	.	.	0.152	0.34004	B	.;.	.;.	2.886515	0.38214	20.7	0.82695063175861272	0.14326	0.90586	0.51885	D	AEFGBCI	0.545784	0.56016	D	-0.0660358931565085	0.38889	2.284709	0.139567390774084	0.46592	2.902705	0.999914244526547	0.45857	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.8	5.8	0.92081	3.793000	0.55188	7.939000	0.75402	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.144	0.81367	198	0.92335	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1628.98	33	chr17	28695437	.	T	C	1628.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.278e+00;DP=861;ExcessHet=0.0000;FS=1.256;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.51;ReadPosRankSum=-6.820e-01;SOR=0.591	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1321	20	0	1	0
chr17	28717219	28717219	C	T	exonic	RAB34	.	nonsynonymous SNV	RAB34:NM_001256281:exon1:c.G490A:p.A164T,	.	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.674	T	0.128	T	.	1.775	11.90	5.16	2.551	1.822	15.723	0.126	.	0.0039	0.00638978	0.0130	0.0016	0.0442	0.0144	0.0189	0.0103	0.0071	0.0029	0.0079818	1234	154602	rs143463372	0.0067	0.0068	0.0070	0.0065	0.0298	0.0066	0.0066	0.0285	0.0279	0.0011	0.0298	0.0028	0.0143	0.0103	0.0009	0.0060	0.0060	0.0028	0.0065	0.0065	0.0063	0.0066	0.0225	0.0061	0.0060	0.0205	0.0197	0.0017	0	0.0225	0.0023	0.0110	0.0088	0	0.0056	0.0047	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005341023	0.00117	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006359	0.32963	T	.	.	.	.	.	.	.	.	.	0.574243	0.20591	T	.	.	.	.	.	.	.	.	-5.536	0.42204	T	.	.	0.095	0.15025	B	.;.;.;.	.;.;.;.	1.397877	0.18117	13.56	0.96660925434757006	0.30625	0.72993	0.35712	D	ALL	0.019016	0.00623	N	0.269360541631356	0.54602	3.625455	0.342495939695724	0.58056	3.974143	0.999999999999547	0.74766	0.733237	0.96898	0	0.587265	0.34161	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	5.16	5.16	0.70563	1.338000	0.33478	3.187000	0.36685	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	15.723	0.77494	137	0.94565	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	821.98	20	chr17	28717219	.	C	T	821.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.885;DP=715;ExcessHet=0.0000;FS=3.013;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.67;ReadPosRankSum=0.169;SOR=1.141	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1133	20	0	1	0
chr17	28717652	28717652	A	C	exonic	RAB34	.	nonsynonymous SNV	RAB34:NM_001256281:exon1:c.T57G:p.I19M,	.	.	.	.	.	.	.	.	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1421872229	6.574e-06	5.472e-06	6.339e-06	6.826e-06	0.0002	2.83e-06	2.04e-06	2.16e-06	1.42e-06	0	0	0	0	0	0.0002	6.011e-06	1.986e-05	0	2.633e-05	2.628e-05	1.286e-05	4.043e-05	4.834e-05	8.15e-06	5.15e-06	8.01e-06	3e-06	4.834e-05	0	0	0	0	0	0	2.944e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.10706499	0.19870	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025605	0.38682	T	.	.	.	.	.	.	.	.	.	0.514549	0.16570	T	.	.	.	.	.	.	.	.	-8.119	0.61879	D	.	.	0.275	0.50844	B	.;.;.;.	.;.;.;.	1.936994	0.24602	16.46	0.75396477047083088	0.11059	0.03192	0.08181	N	ALL	.	.	.	.	.	.	.	.	.	0.999999999998756	0.74766	0.08998	0.02334	0	0.090139	0.02499	0	0.054209	0.00285	2	0.159066	0.04077	0	0.202171	0.30558	4.85	-1.14	0.09241	-0.660000	0.05416	-0.364000	0.09654	-0.590000	0.04653	0.000000	0.06391	0.000000	0.08366	0.653000	0.32775	0.2188:0.1688:0.4466:0.1658	2.144	0.03552	137	0.94565	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	900.98	33	chr17	28717652	.	A	C	900.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.52;ReadPosRankSum=2.40;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1154	20	0	1	0
chr17	28913174	28913174	A	G	exonic	PHF12	.	nonsynonymous SNV	PHF12:NM_001033561:exon9:c.T1397C:p.I466T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.651	P	0.116	B	0.001	N	0.981	D	1.59	L	-3.44	D	0.212	D	0.662	D	0.723	0.672	7.598	4.65	2.200	3.758	11.301	0.444	0.0443483314912	.	0.000199681	8.247e-06	0	0	0	0	0	0	6.062e-05	1.29e-05	2	154602	rs548258299	6.84e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	6.566e-06	6.561e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.272	0.17126	T	0.631	0.19660	T	0.421	0.38282	B	0.054	0.31939	B	0.001139	0.40136	N	0.275863	0.981136	0.39742	D	1.845	0.48678	L	-3.44	0.94658	D	-0.49	0.15578	N	0.261	0.50958	0.212	0.86116	D	0.662	0.88272	D	10	0.08233628	0.13579	T	0.044348	0.61442	D	0.444	0.74657	0.234	0.16305	0.693712370028	0.69107	0.14320104886808568	0.14243	0.320216150028	0.34231	0.662559509277	0.61776	T	0.124612	0.44977	T	0.197928	0.73699	D	0.143388	0.79763	D	0.194785308598986	0.20123	T	0.882012	0.60217	D	0.09937479	0.23451	0.068525136	0.14320	0.09937479	0.23451	0.068525136	0.14320	-2.782	0.10519	T	.	.	0.576	0.67903	P	.;.;.	.;.;.	3.154152	0.42713	21.6	0.78215212397297762	0.12204	0.72826	0.35634	D	AEBCI	0.136708	0.25746	N	0.00963565612717194	0.42293	2.545484	0.157192561858995	0.47524	2.981364	0.999984118964482	0.51787	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.76	4.65	0.57626	3.799000	0.55233	9.320000	0.80036	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8642:0.0:0.0:0.1358	11.301	0.48542	300	0.87974	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2400.98	35	chr17	28913174	.	A	G	2400.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.229e+00;DP=915;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=-3.730e-01;SOR=0.721	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1164	20	0	1	0
chr17	28959147	28959147	T	A	exonic	SEZ6	.	nonsynonymous SNV	SEZ6:NM_001098635:exon10:c.A1985T:p.Y662F	.	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.996	D	0.877	P	0.000	D	1.000	D	0.885	L	2.29	T	-1.119	T	0.052	T	0.448	3.604	18.35	4.82	2.164	4.939	8.081	0.189	0.007707941295	.	0.00159744	0.0009	0.0001	0	0	0	0	0.0023	0.0065	0.0007568	117	154602	rs374943299	0.0004	0.0004	0.0002	0.0006	0.0065	0.0004	0.0004	0.0060	0.0059	5.974e-05	0	0	0	0	0.0005	8.095e-06	0.0005	0.0065	0.0002	0.0002	7.71e-05	0.0003	0.0062	0.0002	0.0001	0.0045	0.0039	2.407e-05	0	0	0	0	0	0	0	0.0005	0.0062	0.419	0.09866	T	0.175	0.30339	T	0.996	0.68779	D	0.877	0.62241	P	0.000007	0.62929	D	0.000000	0.999324	0.81001	D	0.825	0.20901	L	2.29	0.17113	T	-2.15	0.48687	N	0.494	0.52740	-1.1185	0.02428	T	0.052	0.21999	T	10	0.011517078	0.00251	T	0.007708	0.20457	T	0.189	0.46613	0.678	0.81594	0.460438652622	0.45667	0.33188800359192644	0.33101	0.81317789327	0.66827	0.648118019104	0.59719	T	0.013957	0.32963	T	-0.45781	0.01014	T	-0.426104	0.30377	T	0.0734362730087474	0.09124	T	0.893711	0.66542	D	0.17100511	0.37708	0.08246202	0.18822	0.14914078	0.34014	0.10063566	0.24068	-8.857	0.66771	D	.	.	0.083	0.11797	B	.;.;.;.;.	.;.;.;.;.	4.700876	0.75423	26.3	0.98514131179259834	0.42386	0.95705	0.65805	D	AEFDBI	0.687980	0.64914	D	0.408046504631829	0.61862	4.393378	0.443484859860204	0.64301	4.682004	0.988393243178997	0.31502	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.82	4.82	0.61641	4.903000	0.62964	4.057000	0.41556	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.1801:0.0:0.0:0.8199	8.081	0.29908	298	0.88068	.;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	2132.98	34	chr17	28959147	.	T	A	2132.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.900e-01;DP=853;ExcessHet=0.0000;FS=0.587;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=0.074;SOR=0.762	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1199	20	0	1	0
chr17	28959735	28959735	G	C	exonic	SEZ6	.	nonsynonymous SNV	SEZ6:NM_001098635:exon8:c.C1734G:p.H578Q	.	.	423	1082	16	1	0	18	0.00824931	.	.	755729	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.36	T	0.524	P	0.183	B	0.176	N	1.000	D	-0.345	N	1.91	T	-0.966	T	0.019	T	0.138	0.893	8.629	-9.4	-1.937	-4.510	11.010	0.038	0.00535240342981	7.9e-05	0.000199681	0.0008	0	0.0005	0	0	0.0004	0.0023	0.0047	0.0006921	107	154602	rs201821795	0.0005	0.0005	0.0004	0.0006	0.0048	0.0004	0.0004	0.0034	0.0029	8.985e-05	0.0007	0	0	0	0.0048	0.0003	0.0005	0.0034	0.0003	0.0003	0.0003	0.0003	0.0023	0.0002	0.0002	0.0013	0.0010	7.217e-05	0	0.0003	0	0	0	0.0068	0.0003	0.0009	0.0023	0.518	0.07354	T	0.629	0.08273	T	0.524	0.37583	P	0.183	0.35961	B	0.175757	0.17243	N	0.588327	0.999804	0.49283	D	0.255	0.09829	N	1.91	0.23283	T	0.24	0.04533	N	0.072	0.08506	-0.9655	0.38112	T	0.019	0.07846	T	10	0.0071115494	0.00162	T	0.005352	0.13710	T	0.038	0.09825	0.532	0.64002	0.0401082797425	0.02173	0.20418143415023202	0.20335	0.274165390255	0.29914	0.360978484154	0.19529	T	0.002613	0.12058	T	-0.628948	0.00097	T	-0.678638	0.07067	T	0.0276675058757247	0.01639	T	0.472753	0.23323	T	0.04198423	0.06285	0.046438117	0.06473	0.047533203	0.08140	0.042462602	0.05062	-0.576	0.00632	T	.	.	0.072	0.07745	B	.;.;.;.;.	.;.;.;.;.	-0.924221	0.00886	0.032	0.8419897779333122	0.15153	0.03239	0.08258	N	AEFBI	0.162620	0.28882	N	-1.49319807342195	0.01898	0.08326784	-1.53814632516367	0.02058	0.09412028	0.999994996588918	0.74766	0.706298	0.61202	0	0.514364	0.08380	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.17	-9.4	0.00521	-4.517000	0.00255	-6.420000	0.01403	-0.103000	0.15852	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.629:0.0:0.2838:0.0872	11.010	0.46872	298	0.88068	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	544.98	48	chr17	28959735	.	G	C	544.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=1109;ExcessHet=0.0000;FS=4.418;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.50;ReadPosRankSum=0.157;SOR=1.283	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	20	0	1	0
chr17	28979715	28979715	T	G	exonic	SEZ6	.	nonsynonymous SNV	SEZ6:NM_001098635:exon3:c.A823C:p.I275L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.001	B	0.011	B	0.000	D	1.000	D	2.19	M	0.13	T	-0.573	T	0.208	T	0.599	3.178	16.63	5.26	1.998	2.568	13.122	0.288	0.0176355087994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.49117	T	0.019	0.59159	D	0.001	0.07471	B	0.004	0.10090	B	0.000106	0.50451	D	0.077839	0.70769	0.33486	D	2.56	0.74772	M	0.13	0.60973	T	-1.46	0.39887	N	0.536	0.56748	-0.5730	0.65895	T	0.208	0.56744	T	10	0.35929984	0.52601	T	0.017636	0.39418	T	0.288	0.60691	0.604	0.73586	0.694220761729	0.69158	0.6637739966128213	0.66314	0.268677020668	0.29385	0.671018660069	0.62983	T	0.040913	0.44273	T	0.0161306	0.53857	T	-0.214606	0.53255	T	0.914838790893555	0.57163	D	0.912709	0.70849	D	0.19136705	0.40761	0.15465239	0.36287	0.19136705	0.40761	0.15465239	0.36286	-6.361	0.49244	T	.	.	0.279	0.51192	B	.;.;.;.;.	.;.;.;.;.	3.159035	0.42797	21.6	0.97965949258802565	0.37217	0.89676	0.50294	D	AEFBI	0.427657	0.49151	N	0.0211986809344497	0.42819	2.587236	0.158313116796338	0.47585	2.986469	0.974319521508469	0.29531	0.706298	0.61202	0	0.626922	0.53725	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.26	5.26	0.73479	2.040000	0.40824	6.082000	0.53358	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	13.122	0.58746	296	0.88164	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1870.98	194	chr17	28979715	.	T	G	1870.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=964;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.64;ReadPosRankSum=-1.862e+00;SOR=0.687	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1141	20	0	1	0
chr17	29073992	29073992	G	A	exonic	TIAF1	.	nonsynonymous SNV	TIAF1:NM_004740:exon1:c.C208T:p.R70C,	.	.	412	1107	3	0	0	3	0.00135318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.004	B	0.002	B	.	.	1.000	N	0	N	.	.	-1.019	T	0.025	T	0.085	0.996	9.066	-6.21	-1.251	-0.317	3.467	0.115	.	0.0079	0.00359425	0.0056	0.0021	0.0038	0	0.0012	0.0089	0.0022	0.0006	0.0061966	958	154602	rs115111915	0.0087	0.0087	0.0090	0.0084	0.0104	0.0086	0.0085	0.0103	0.0102	0.0023	0.0052	0.0083	5.038e-05	0.0016	0.0016	0.0104	0.0069	0.0005	0.0064	0.0064	0.0067	0.0060	0.0093	0.0061	0.0059	0.0087	0.0085	0.0034	0	0.0081	0.0089	0	0.0012	0.0136	0.0093	0.0100	0.0013	.	.	.	0.152	0.32249	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	.	.	.	0.092	0.07125	-1.0187	0.24139	T	0.025	0.10688	T	8	0.0034545362	0.00061	T	.	.	.	.	.	.	.	0.139678290688	0.13603	0.01665693375854248	0.01620	0.267289047537	0.29270	0.230452418327	0.02002	T	0.002592	0.01984	T	-0.620891	0.00109	T	-0.65232	0.08793	T	0.00862947792009919	0.00106	T	0.478252	0.14398	T	0.19761428	0.41633	0.086252645	0.19971	0.19761428	0.41633	0.086252645	0.19971	-4.025	0.24177	T	.	.	0.170	0.37331	B	.	.	0.559357	0.09281	6.061	0.81430019436358825	0.13681	0.00815	0.03299	N	AEFBCI	0.044571	0.07187	N	-1.14972097517527	0.05784	0.2645968	-1.19317304276541	0.06023	0.2886944	0.95747027176351	0.28306	0.722319	0.85440	0	0.643519	0.57511	0	0.698795	0.65105	0	0.530356	0.10902	0	.	.	4.61	-6.21	0.01887	-0.634000	0.05575	-0.187000	0.11075	0.676000	0.76740	0.001000	0.13787	0.000000	0.08366	0.788000	0.37229	0.5317:0.103:0.2579:0.1075	3.467	0.07120	249	0.90233	.	.	.	.	.	rs115111915	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1789.98	33	chr17	29073992	.	G	A	1789.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.514;DP=840;ExcessHet=0.0000;FS=1.357;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.16;ReadPosRankSum=0.100;SOR=0.651	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1206	20	0	1	0
chr17	29074800	29074801	TG	-	exonic	MYO18A	.	frameshift deletion	MYO18A:NM_001346767:exon40:c.5978_5979del:p.T1993Rfs*8	.	.	432	1089	1	0	0	1	0.000458926	.	.	3209394	MYO18A-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0044	0.00179712	0.0003	0.0039	0	0	0	0	0	0	0.0003105	48	154602	rs144652932	0.0001	0.0001	0.0001	9.352e-05	0.0042	0.0001	9.701e-05	0.0036	0.0034	0.0042	6.708e-05	0	0	0	0.0002	0	0.0004	5.797e-05	0.0011	0.0011	0.0011	0.0010	0.0038	0.0009	0.0009	0.0033	0.0031	0.0038	0	0.0003	0	0	0	0	0	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1754.94	38	chr17	29074799	.	CTG	C	1754.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.140;DP=823;ExcessHet=0.0000;FS=10.770;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.95;ReadPosRankSum=1.52;SOR=0.708	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1290	20	0	1	0
chr17	29090907	29090907	C	T	exonic	MYO18A	.	nonsynonymous SNV	MYO18A:NM_001346767:exon34:c.G5096A:p.R1699H	.	.	424	1097	1	0	0	1	0.000455581	.	.	3204017	MYO18A-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.986	D	0.000	D	1.000	D	2.215	M	-1.48	T	0.353	D	0.624	D	0.474	4.805	27.1	4.8	2.657	5.567	18.029	0.473	0.150181650347	0.0014	0.00179712	0.0003	0.0040	0	0	0	0	0	0	0.0003299	51	154602	rs115455253	0.0001	0.0001	0.0002	0.0001	0.0043	0.0001	0.0001	0.0037	0.0035	0.0043	6.708e-05	0	2.519e-05	0	0.0002	5.397e-06	0.0004	5.797e-05	0.0011	0.0011	0.0011	0.0011	0.0039	0.0010	0.0009	0.0034	0.0032	0.0039	0	0.0003	0	0	0	0	0	0.0019	0.0004	0.061	0.37118	T	0.014	0.69154	D	1.0	0.90584	D	0.986	0.76916	D	0.000000	0.84330	D	0.049156	0.999195	0.81001	D	2.395	0.69210	M	-1.48	0.82897	T	-3.53	0.68532	D	0.711	0.71410	0.353	0.88390	D	0.624	0.86755	D	10	0.013309181	0.00283	T	0.150182	0.83190	D	0.473	0.76619	.	.	0.805609722091	0.80379	0.29669887922783494	0.29582	1.03166776097	0.75447	0.680241346359	0.64302	T	0.094083	0.39344	T	-0.234519	0.16055	T	-0.109518	0.62650	T	0.112886545486963	0.13720	T	0.976102	0.91674	D	0.3307137	0.55530	0.22893453	0.47950	0.3307137	0.55530	0.22893453	0.47949	-9.534	0.72815	D	.	.	0.08	0.16407	B	.;.;.;.	.;.;.;.	5.379578	0.90159	31	0.99936857397863865	0.99661	0.93979	0.59750	D	AEFDBHCI	0.713572	0.66633	D	0.731937032167662	0.81726	7.590185	0.693559075039772	0.81888	7.633502	0.999999999999996	0.74766	0.77792	0.99625	0	0.702456	0.74545	0	0.854111	0.99894	0	0.714379	0.83352	0	.	.	4.8	4.8	0.61157	4.701000	0.61496	7.639000	0.63104	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	18.029	0.89202	246	0.90367	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1172.98	34	chr17	29090907	.	C	T	1172.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=786;ExcessHet=0.0000;FS=2.090;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.52;ReadPosRankSum=-5.940e-01;SOR=1.072	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1430	20	0	1	0
chr17	29092390	29092390	C	T	exonic	MYO18A	.	nonsynonymous SNV	MYO18A:NM_001346767:exon33:c.G5029A:p.E1677K	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.994	D	0.000	D	1.000	D	2.485	M	-1.16	T	0.818	D	0.829	D	0.72	5.648	36	5.2	2.604	7.259	18.722	0.726	0.135816531088	.	.	.	.	.	.	.	.	.	.	.	.	.	rs763255566	3.424e-05	3.42e-05	2.999e-05	3.855e-05	0.0002	2.634e-05	2.378e-05	2.828e-05	2.508e-05	2.987e-05	0	0	0	0	0.0002	3.778e-05	4.97e-05	3.479e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.106	0.46632	T	1.0	0.90584	D	0.949	0.82059	D	0.000000	0.84330	D	0.000000	0.999958	0.52396	D	2.32	0.66415	M	-1.16	0.88689	T	-2.98	0.62008	D	0.855	0.90932	0.818	0.94636	D	0.829	0.94267	D	10	0.83330256	0.82489	D	0.135817	0.81828	D	0.726	0.90369	0.512	0.61000	0.701751612699	0.69916	0.4181549276080129	0.41731	0.939492545994	0.72166	0.807723283768	0.83144	D	0.082479	0.36836	T	0.111399	0.65496	D	0.104387	0.77200	D	0.971096575260162	0.69189	D	0.972453	0.95129	D	0.5179564	0.68142	0.36317226	0.61709	0.5179564	0.68143	0.36317226	0.61709	-7.385	0.69273	T	.	.	0.476	0.63476	A	.;.;.;.	.;.;.;.	5.582235	0.92310	32	0.99938020359000579	0.99698	0.98667	0.85343	D	AEFDBI	0.855898	0.77307	D	0.843185828619516	0.88718	9.684393	0.80541560577488	0.90166	10.28574	0.999999999998092	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	7.474000	0.80024	5.960000	0.51806	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	18.722	0.91661	244	0.90442	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2103.98	33	chr17	29092390	.	C	T	2103.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.462;DP=826;ExcessHet=0.0000;FS=1.469;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.83;ReadPosRankSum=0.459;SOR=0.866	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1303	20	0	1	0
chr17	29121647	29121647	G	A	exonic	MYO18A	.	nonsynonymous SNV	MYO18A:NM_001346767:exon5:c.C1271T:p.T424I	.	.	385	1136	1	0	0	1	0.000439947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.837	P	0.522	P	0.000	D	0.880	D	1.445	L	-2.24	D	0.417	D	0.621	D	0.554	4.133	21.3	5.51	2.586	3.278	19.014	0.477	0.0978159079787	.	.	.	.	.	.	.	.	.	.	.	.	.	rs985527170	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.36509	T	0.007	0.69154	D	0.837	0.46346	P	0.522	0.48285	P	0.000118	0.50451	D	0.206590	0.879517	0.35722	D	2.24	0.63355	M	-2.24	0.87194	D	-4.05	0.74504	D	0.708	0.72299	0.417	0.89360	D	0.621	0.86638	D	10	0.637337	0.68857	D	0.097816	0.76837	D	0.477	0.76881	0.616	0.75000	0.51375633675	0.51017	0.5794805169194648	0.57877	0.769687871855	0.64702	0.785212993622	0.79716	T	0.590316	0.86719	D	0.0998395	0.64275	D	-0.0943639	0.63831	T	0.984528720378876	0.75805	D	0.944206	0.92042	D	0.28247526	0.51284	0.29206467	0.55232	0.28247526	0.51284	0.29206467	0.55231	-11.39	0.81753	D	.	.	0.377	0.59666	A	.;.;.;.;.	.;.;.;.;.	4.563055	0.71921	25.7	0.99864243631182348	0.94276	0.97423	0.74656	D	AEFBI	0.400517	0.47537	N	0.312492542058359	0.56790	3.844273	0.401629382560411	0.61665	4.369984	0.997944596984302	0.36224	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	2.932000	0.48633	11.826000	0.97381	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.0:0.0:1.0:0.0	19.014	0.92865	242	0.90534	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XVIII myosin, motor domain;.;.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XVIII myosin, motor domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1408.98	34	chr17	29121647	.	G	A	1408.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.130e-01;DP=838;ExcessHet=0.0000;FS=1.450;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=0.471;SOR=0.519	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1210	20	0	1	0
chr17	29615743	29615743	C	T	exonic	CORO6	.	nonsynonymous SNV	CORO6:NM_001351301:exon7:c.G703A:p.G235S	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	1.995	M	-0.31	T	-0.112	T	0.437	T	0.44	3.634	18.48	4.13	1.116	4.826	14.289	0.168	0.271734169885	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372595207	5.024e-06	6.84e-06	2.832e-06	7.275e-06	5.689e-05	2.09e-06	1.34e-06	9.42e-06	3.52e-06	0	5.689e-05	0	0	0	0	1.855e-06	5.197e-05	0	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.009	0.57480	D	0.024	0.56640	D	0.997	0.70673	D	0.801	0.58220	P	0.000014	0.62929	D	0.066074	0.999995	0.58761	D	2.125	0.59049	M	-0.31	0.73100	T	-0.35	0.12847	N	0.152	0.32701	-0.1121	0.79819	T	0.437	0.77689	T	10	0.33072424	0.50305	T	0.271734	0.89904	D	0.168	0.42943	0.331	0.31681	0.917151192402	0.91631	0.2431724794799881	0.24231	0.859272326509	0.68889	0.606535077095	0.53826	T	0.006915	0.06344	T	0.0251028	0.55068	T	-0.201718	0.54484	T	0.743699066302529	0.42938	D	0.906109	0.67223	D	.	.	.	.	.	.	.	.	-4.748	0.33979	T	.	.	0.100	0.25656	B	.;.;.;.	.;.;.;.	4.627492	0.73545	26.0	0.98289615646113193	0.39935	0.94179	0.60352	D	ALL	0.787441	0.71722	D	0.526414767640643	0.68658	5.247443	0.485821345952573	0.67051	5.032402	0.999999999999993	0.74766	0.652421	0.48094	0	0.552344	0.17405	0	0.64067	0.45733	0	0.055017	0.00153	3	.	.	5.12	4.13	0.47661	4.016000	0.56871	3.978000	0.40881	-0.233000	0.07663	0.999000	0.42656	1.000000	0.68203	0.970000	0.54328	0.0:0.8497:0.1503:0.0	14.289	0.65815	82	0.96572	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	454.98	36	chr17	29615743	.	C	T	454.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.186;DP=754;ExcessHet=0.0000;FS=4.670;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.89;ReadPosRankSum=-1.120e-01;SOR=0.230	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1048	20	0	1	0
chr17	29631107	29631107	T	G	exonic	SSH2	.	nonsynonymous SNV	SSH2:NM_033389:exon15:c.A4006C:p.S1336R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.996	D	0.923	D	0.003	N	1.000	D	2.045	M	-0.44	T	-0.097	T	0.450	T	0.743	4.251	22.1	6.17	2.371	2.961	16.822	0.264	0.0554642873796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	0.993	0.68779	D	0.84	0.65830	P	0.002930	0.35704	N	0.323657	0.999993	0.58761	D	2.615	0.76484	M	-0.44	0.69777	T	-1.6	0.38540	N	0.234	0.44379	-0.0972	0.80162	T	0.450	0.78479	T	10	0.29223174	0.46800	T	0.055464	0.66244	D	0.264	0.57741	0.217	0.13788	0.611543997595	0.60841	0.5910832469223872	0.59038	0.486683330562	0.47520	0.609823822975	0.54291	T	0.099158	0.40370	T	0.171906	0.71299	D	0.00915459	0.70927	D	0.894837260246277	0.54629	D	0.90061	0.65471	D	0.311439	0.53911	0.43907362	0.67271	0.311439	0.53911	0.43907362	0.67272	-3.646	0.18524	T	.	.	0.838	0.83008	P	.;.;.	.;.;.	4.236966	0.64207	24.7	0.99842120041822624	0.92229	0.96903	0.71570	D	AEFBI	0.448698	0.50382	N	0.659498098672269	0.76986	6.588342	0.669306725804661	0.80053	7.214729	0.999999980403931	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.616094	0.41390	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	2.264000	0.42959	7.938000	0.75364	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	16.822	0.85699	83	0.96533	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1650.98	34	chr17	29631107	.	T	G	1650.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.244e+00;DP=843;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=2.75;SOR=0.725	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr17	29636533	29636533	G	T	exonic	SSH2	.	nonsynonymous SNV	SSH2:NM_033389:exon14:c.C1616A:p.A539D	.	.	426	1087	9	0	0	9	0.00412277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.302	B	0.143	B	0.498	N	1.000	D	1.79	L	1.33	T	-1.038	T	0.086	T	0.41	2.861	15.53	6.16	2.937	5.043	15.929	0.120	.	0.0038	0.000798722	0.0048	0.0006	0.0021	0	0.0194	0.0060	0.0055	0.0007	0.0044889	694	154602	rs144643694	0.0042	0.0042	0.0043	0.0042	0.0054	0.0041	0.0041	0.0042	0.0041	0.0007	0.0019	0.0018	2.519e-05	0.0168	0.0054	0.0043	0.0038	0.0013	0.0046	0.0046	0.0041	0.0051	0.0045	0.0043	0.0042	0.0041	0.0039	0.0007	0.1275	0.0019	0.0014	0	0.0179	0.0102	0.0045	0.0043	0.0017	0.002	0.72154	D	0.498	0.12002	T	0.201	0.32608	B	0.068	0.33763	B	0.498038	0.11981	N	0.787660	0.560634	0.31260	N	0.345	0.11182	N	1.33	0.35031	T	-0.06	0.07882	N	0.336	0.85872	-1.0379	0.17954	T	0.086	0.33354	T	10	0.002454728	0.00037	T	.	.	.	0.120	0.33359	.	.	0.147330786459	0.14319	0.576949111593385	0.57623	0.296197276613	0.32004	0.413520932198	0.26944	T	0.034352	0.23286	T	-0.4142	0.01864	T	-0.364021	0.37587	T	0.0335938275175117	0.02569	T	0.853415	0.53896	D	0.23037378	0.45791	0.38204578	0.63200	0.23037378	0.45791	0.38204578	0.63200	-3.01	0.10289	T	.	.	0.215	0.44488	B	.;.;.	.;.;.	3.687241	0.52517	23.2	0.99401588633233029	0.62841	0.96836	0.71202	D	AEFBI	0.426416	0.49078	N	0.299714649619932	0.56134	3.777769	0.454532466258918	0.65010	4.76974	0.983262605954836	0.30531	0.706548	0.73137	0	0.615513	0.52658	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	6.16	6.16	0.99302	5.139000	0.64642	10.001000	0.83042	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.966000	0.53164	0.0658:0.0:0.9342:0.0	15.929	0.79431	85	0.96447	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2775.98	33	chr17	29636533	.	G	T	2775.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.080e+00;DP=920;ExcessHet=0.0000;FS=0.491;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=0.326;SOR=0.637	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1063	20	0	1	0
chr17	30080773	30080773	G	A	exonic	EFCAB5	.	nonsynonymous SNV	EFCAB5:NM_198529:exon17:c.G3218A:p.G1073E,	.	.	422	1098	2	0	0	2	0.000909918	.	.	3248507	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	1.0	D	1.0	D	0.003	N	1.000	D	1.91	M	0.64	T	-0.646	T	0.261	T	0.525	2.140	13.11	5.29	2.476	4.265	13.336	0.228	0.0270767753221	.	.	0.0003	0	0	0.0004	0	8.73e-05	0	0.0012	0.0001229	19	154602	rs755482461	9.005e-05	9.029e-05	6.695e-05	0.0001	0.0010	7.726e-05	7.268e-05	0.0008	0.0008	0	0	0	0.0007	0	0.0002	7.217e-06	0.0001	0.0010	2.628e-05	2.625e-05	0	5.376e-05	0.0006	8.14e-06	5.14e-06	0.0002	9.011e-05	0	0	0	0	0.0002	0	0	0	0	0.0006	0.056	0.38185	T	0.016	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.002944	0.35672	N	0.123818	0.736452	0.81001	D	2.275	0.64647	M	0.64	0.52867	T	-5.66	0.87063	D	0.562	0.58629	-0.6460	0.62887	T	0.261	0.63230	T	10	0.1966325	0.35563	T	0.027077	0.49929	D	0.228	0.52768	.	.	0.649436034143	0.64652	0.6263177881581388	0.62564	0.548320089044	0.51777	0.470202624798	0.34708	T	0.165102	0.51082	T	-0.311637	0.07605	T	-0.279613	0.46842	T	0.467998445034027	0.31457	T	0.713629	0.32527	T	0.34446344	0.56632	0.52000386	0.72268	0.34446344	0.56632	0.52000386	0.72268	-9.73	0.72279	D	.	.	0.370	0.57835	A	.;.	.;.	4.379004	0.67488	25.1	0.9718952649788839	0.32758	0.91646	0.53964	D	AEFGBI	0.731048	0.67825	D	0.61873467649897	0.74359	6.119518	0.597861731300604	0.74785	6.196728	0.052114862922255	0.14896	0.549168	0.22868	0	0.59043	0.45803	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	5.29	5.29	0.74430	4.361000	0.59235	11.625000	0.93653	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.790000	0.37311	0.0784:0.0:0.9216:0.0	13.336	0.59958	813	0.42397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	583.98	27	chr17	30080773	.	G	A	583.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=728;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.97;ReadPosRankSum=-3.950e-01;SOR=0.730	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1258	20	0	1	0
chr17	30082990	30082990	A	G	exonic	EFCAB5	.	nonsynonymous SNV	EFCAB5:NM_198529:exon18:c.A3526G:p.T1176A,	.	.	423	1095	3	1	0	5	0.0022779	.	.	3201942	EFCAB5-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.31	T	0.323	B	0.116	B	0.269	N	1.000	N	1.255	L	3.0	T	-0.993	T	0.015	T	0.066	1.026	9.190	-0.633	0.047	-0.084	10.194	0.011	0.00925671261981	0.0009	0.000798722	0.0011	0.0003	0.0012	0	0	0.0017	0.0022	0.0004	0.0011255	174	154602	rs193065340	0.0014	0.0014	0.0014	0.0014	0.0023	0.0014	0.0014	0.0015	0.0015	0.0002	0.0018	0.0033	0	7.49e-05	0.0023	0.0016	0.0015	0.0004	0.0012	0.0012	0.0014	0.0010	0.0027	0.0011	0.0010	0.0020	0.0018	0.0003	0	0.0027	0.0035	0	9.414e-05	0.0068	0.0016	0.0038	0.0004	0.263	0.17643	T	0.244	0.26798	T	0.323	0.33082	B	0.116	0.31939	B	0.268895	0.15167	N	0.616362	1	0.08975	N	1.405	0.35469	L	2.98	0.09356	T	-1.52	0.36980	N	0.064	0.03613	-0.9925	0.31959	T	0.015	0.06042	T	10	0.004950762	0.00106	T	0.009257	0.24319	T	0.011	0.01250	.	.	0.0762999501168	0.06990	0.14925080201816163	0.14847	0.186280126932	0.20939	0.359834998846	0.19362	T	0.004422	0.03828	T	-0.684859	0.00045	T	-0.781156	0.02419	T	0.00152499983924638	0.00015	T	0.493751	0.15636	T	0.07692171	0.17426	0.09337903	0.22053	0.07692171	0.17426	0.09337903	0.22052	-2.17	0.03897	T	.	.	0.104	0.18950	B	.;.	.;.	0.100866	0.05025	1.575	0.71712959979094126	0.09723	0.01538	0.05055	N	AEFBI	0.040916	0.06150	N	-0.895973761068404	0.10937	0.525223	-0.967789574546086	0.10514	0.5299875	2.61907546696961E-4	0.06244	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.32	-0.633	0.10941	-0.077000	0.11356	0.593000	0.19842	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.047000	0.14932	0.5469:0.0:0.4531:0.0	10.194	0.42217	813	0.42397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1290.98	36	chr17	30082990	.	A	G	1290.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.315e+00;DP=802;ExcessHet=0.0000;FS=0.717;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=-7.650e-01;SOR=0.616	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,996	20	0	1	0
chr17	30203175	30203175	T	G	exonic	SLC6A4	.	nonsynonymous SNV	SLC6A4:NM_001045:exon14:c.A1815C:p.K605N,	.	.	426	1091	5	0	0	5	0.00228624	.	.	343996	Behavior_disorder	MedGen:C0004930	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.31	T	0.228	B	0.323	B	0.000	D	0.999	D	0	N	-0.87	T	-1.043	T	0.060	T	0.348	2.145	13.13	-0.691	-0.069	0.573	11.294	0.255	.	0.0004	0.00858626	0.0062	0	0	0.0299	0.0443	0.0026	0.0122	0.0010	0.0052845	817	154602	rs6352	0.0031	0.0031	0.0031	0.0031	0.0381	0.0030	0.0030	0.0365	0.0358	2.991e-05	2.241e-05	0	0.0381	0.0408	0.0010	0.0005	0.0031	0.0009	0.0048	0.0049	0.0029	0.0069	0.0331	0.0046	0.0044	0.0291	0.0275	4.81e-05	0	6.534e-05	0	0.0331	0.0437	0	0.0013	0.0028	0.0012	0.145	0.25154	T	0.211	0.26631	T	0.228	0.30509	B	0.323	0.41825	B	0.000000	0.84330	D	0.089003	0.999481	0.47237	D	1.65	0.42232	L	-0.87	0.74583	T	-2.74	0.58248	D	0.587	0.60749	-1.0426	0.16532	T	0.060	0.25054	T	10	0.005604863	0.00124	T	.	.	.	0.255	0.56562	0.158	0.06178	0.280695755116	0.27685	0.8949349391608091	0.89464	1.23342835763	0.81408	0.532474398613	0.43383	T	0.731039	0.92472	D	-0.394518	0.02514	T	-0.299247	0.44803	T	0.0784977814703356	0.09795	T	0.867413	0.56831	D	0.61771274	0.73641	0.39346376	0.64065	0.53450614	0.69088	0.34594852	0.60269	-9.131	0.68536	D	0.3459608604563649	0.44346	0.486	0.63923	A	.;.;.	.;.;.	2.653941	0.34557	19.66	0.98431265892724673	0.41397	0.87794	0.47456	D	AEFGBI	0.609021	0.59838	D	-0.752430573025061	0.14566	0.7267378	-0.635461719448185	0.18584	0.9934266	0.00248460145989192	0.09470	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	6.17	-0.691	0.10737	0.852000	0.27417	0.119000	0.14890	-0.859000	0.02647	1.000000	0.71638	0.944000	0.28851	0.762000	0.36218	0.0:0.5208:0.0:0.4792	11.294	0.48500	616	0.66398	.;.;.	.	.	.	.	rs6352	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	797.98	34	chr17	30203175	.	T	G	797.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.672e+00;DP=785;ExcessHet=0.0000;FS=0.860;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.58;ReadPosRankSum=0.119;SOR=0.586	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1224	20	0	1	0
chr17	30379096	30379096	C	T	exonic	CPD	.	nonsynonymous SNV	CPD:NM_001304:exon1:c.C116T:p.A39V,	.	.	410	1107	5	0	0	5	0.00225327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.998	D	0.691	P	0.324	N	1.000	D	0.695	N	2.04	T	-1.131	T	0.040	T	0.262	3.838	19.49	4.47	2.295	2.890	13.957	0.068	.	.	0.00259585	0.0043	0	0	0.0564	0.0116	0.0014	0.0054	0.0016	0.0014489	224	154602	rs184488188	0.0014	0.0014	0.0014	0.0013	0.0373	0.0013	0.0013	0.0356	0.0349	6.707e-05	0.0001	0.0013	0.0373	0.0027	0.0007	0.0003	0.0014	0.0017	0.0011	0.0012	0.0009	0.0014	0.0214	0.0010	0.0010	0.0182	0.0169	2.405e-05	0	0.0001	0.0014	0.0214	0.0025	0	0.0003	0	0.0017	0.177	0.22224	T	0.068	0.44106	T	0.998	0.73220	D	0.691	0.53831	P	0.324097	0.14222	N	0.615860	0.968249	0.38647	D	0.805	0.20218	L	2.04	0.20808	T	-0.48	0.15379	N	0.238	0.26837	-1.1305	0.01758	T	0.040	0.17191	T	10	0.0048922	0.00104	T	.	.	.	0.068	0.19811	.	.	0.371344866733	0.36741	0.5501959026049646	0.54945	1.07151977504	0.76828	0.818196117878	0.84751	D	0.001483	0.00934	T	-0.527631	0.00397	T	-0.515086	0.20794	T	0.0380142772088592	0.03334	T	0.673133	0.28166	T	0.090256564	0.21114	0.085578136	0.19768	0.090256564	0.21114	0.085578136	0.19767	-4.661	0.32929	T	.	.	0.163	0.36053	B	.	.	2.677540	0.34918	19.76	0.99801906707219179	0.88639	0.79358	0.39309	D	ALL	0.372464	0.45810	N	0.277139513957658	0.54991	3.663664	0.299533258462946	0.55513	3.714203	1.0	0.98316	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.372554	0.06265	0	.	.	4.47	4.47	0.53770	0.582000	0.23535	5.478000	0.48715	0.520000	0.23804	0.137000	0.23458	1.000000	0.68203	0.505000	0.29129	0.0:1.0:0.0:0.0	13.957	0.63666	620	0.66037	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	441.98	34	chr17	30379096	.	C	T	441.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.820e-01;DP=783;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.40;ReadPosRankSum=-1.777e+00;SOR=0.638	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,104,1374	20	0	1	0
chr17	30894566	30894566	A	G	exonic	ATAD5	.	nonsynonymous SNV	ATAD5:NM_024857:exon22:c.A5300G:p.N1767S,	.	.	0	225	1	0	0	1	0.00221729	.	.	3210092	ATAD5-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.41	T	0.003	B	0.003	B	0.282	N	1.000	N	-0.92	N	3.16	T	-0.922	T	0.004	T	0.002	-0.190	3.076	-0.38	-0.099	0.700	5.751	0.023	.	0.0058	0.00539137	0.0021	0.0139	0.0020	0	0.0002	0.0011	0.0056	0.0001	0.0021022	325	154602	rs114345202	0.0014	0.0014	0.0014	0.0013	0.0159	0.0013	0.0013	0.0147	0.0143	0.0159	0.0038	0.0042	0	9.442e-05	0.0101	0.0009	0.0032	0.0001	0.0055	0.0055	0.0054	0.0056	0.0144	0.0052	0.0051	0.0134	0.0130	0.0144	0	0.0082	0.0032	0	0.0002	0.0170	0.0011	0.0095	0.0004	0.476	0.08335	T	0.716	0.05416	T	0.003	0.11197	B	0.003	0.08700	B	0.282249	0.14923	N	0.706131	0.999741	0.20516	N	-0.09	0.04745	N	3.16	0.07711	T	-0.46	0.14978	N	0.06	0.03175	-0.9218	0.45307	T	0.004	0.01125	T	10	0.0034610927	0.00061	T	.	.	.	0.023	0.04649	.	.	0.082315109003	0.07666	0.09155261886103465	0.09088	0.0956850326144	0.10811	0.242986291647	0.03066	T	0.036615	0.24171	T	-0.731291	0.00023	T	-0.810901	0.01645	T	0.000257637940343668	0.00002	T	0.621638	0.23898	T	0.026675746	0.01755	0.023402303	0.00354	0.026675746	0.01754	0.023402303	0.00354	-2.255	0.04316	T	.	.	0.062	0.01367	B	.	.	2.502882	0.32310	19.00	0.57019158543541715	0.05677	0.15600	0.18991	N	AEFGBI	0.045345	0.07404	N	-1.02512109945197	0.08084	0.3778508	-0.85843320085775	0.13085	0.6768554	0.175108867908831	0.17793	0.651	0.46895	0	0.653731	0.59785	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.59	-0.38	0.11868	0.725000	0.25638	1.541000	0.27227	-0.113000	0.14837	0.932000	0.32345	1.000000	0.68203	0.981000	0.58702	0.4172:0.0:0.441:0.1418	5.751	0.17415	849	0.35778	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1474.98	33	chr17	30894566	.	A	G	1474.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.507e+00;DP=795;ExcessHet=0.0000;FS=1.674;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.05;ReadPosRankSum=-8.650e-01;SOR=0.486	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1200	20	0	1	0
chr17	30984696	30984696	G	T	exonic	RNF135	.	nonsynonymous SNV	RNF135:NM_001184992:exon2:c.G452T:p.S151I	Macrocephaly, macrosomia, facial dysmorphism syndrome	.	1	1519	2	0	0	2	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.994	D	0.906	P	0.198	N	1.000	N	1.445	L	2.74	T	-0.943	T	0.177	T	0.231	2.177	13.24	-1.49	-0.201	-0.376	3.442	0.029	0.0112535201732	.	.	9.061e-05	0	0	0	0	0	0	0.0007	7.12e-05	11	154602	rs752465174	4.036e-05	4.036e-05	1.906e-05	6.188e-05	0.0006	3.179e-05	2.91e-05	0.0005	0.0005	0	0	0	0	0	0	8.993e-07	4.968e-05	0.0006	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.126	0.72154	T	0.394	0.74150	T	0.766	0.43754	P	0.174	0.35540	B	0.197673	0.16681	N	0.579457	1	0.08975	N	1.975	0.53506	M	0.38	0.57575	T	-2.56	0.60827	D	0.24	0.29889	-0.9431	0.42121	T	0.177	0.52272	T	10	0.052444637	0.05281	T	0.011254	0.28682	T	0.029	0.06676	0.454	0.51775	0.588172243141	0.58492	0.217097590336127	0.21625	0.11347962357	0.12810	0.351956903934	0.18210	T	0.016946	0.13909	T	-0.391962	0.02613	T	-0.421308	0.30924	T	0.450849503278732	0.30828	T	0.526647	0.17353	T	0.07461978	0.16757	0.06598007	0.13452	0.07461978	0.16757	0.06598007	0.13451	-5.267	0.39615	T	.	.	0.095	0.41768	B	.;.;.	.;.;.	0.990963	0.13692	10.23	0.9845052054349428	0.41620	0.02066	0.06159	N	AEFBI	0.044585	0.07190	N	-0.485768745372145	0.22546	1.204656	-0.658909711171073	0.17992	0.9591807	0.00316404807542801	0.09966	0.736574	0.97449	0	0.709663	0.81188	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.02	-1.49	0.08259	-0.309000	0.08185	0.113000	0.14809	0.662000	0.56354	0.002000	0.15269	0.002000	0.18203	0.984000	0.60418	0.4012:0.0:0.422:0.1768	3.442	0.07038	704	0.57414	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	620.98	33	chr17	30984696	.	G	T	620.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.158e+00;DP=759;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.06;ReadPosRankSum=2.34;SOR=0.602	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1237	20	0	1	0
chr17	31230283	31230283	T	C	exonic	NF1	.	nonsynonymous SNV	NF1:NM_000267:exon23:c.T3014C:p.M1005T	Leukemia, juvenile myelomonocytic, Autosomal dominant, Somatic mutation;Neurofibromatosis, familial spinal, Autosomal dominant;Neurofibromatosis, type 1, Autosomal dominant;Neurofibromatosis-Noonan syndrome, Autosomal dominant;Watson syndrome, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	478133	Juvenile_myelomonocytic_leukemia|Neurofibromatosis,_type_1|NF1-related_disorder|Cardiovascular_phenotype|Hereditary_cancer-predisposing_syndrome	Human_Phenotype_Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834|MONDO:MONDO:0018975,MedGen:C0027831,OMIM:162200,Orphanet:636|.|MedGen:CN230736|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.001	B	0.004	B	0.001	D	1.000	D	-2.175	N	3.55	T	-0.927	T	0.005	T	0.351	-0.207	2.995	5.46	2.062	5.937	15.527	0.184	0.0301372825576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.10090	B	0.000637	0.42799	D	0.270437	0.995667	0.42797	D	-2.005	0.00192	N	3.41	0.06845	T	-0.11	0.08653	N	0.499	0.53181	-0.9266	0.44630	T	0.005	0.01833	T	10	0.051322848	0.04996	T	0.030137	0.52511	D	0.184	0.45763	0.598	0.72862	0.174091166621	0.17034	0.26756447935726063	0.26669	0.794837845557	0.65999	0.756662070751	0.75433	T	0.371385	0.73576	T	-0.167282	0.25647	T	-0.478065	0.24652	T	0.414437055587769	0.29484	T	0.852415	0.53747	D	0.09707384	0.22875	0.13054675	0.31366	0.09707384	0.22875	0.13054675	0.31365	-5.647	0.43219	T	0.03767598561740011	0.00259	0.072	0.04356	B	.;.;.	.;.;.	2.634552	0.34263	19.58	0.51136579761178647	0.04508	0.95922	0.66735	D	AEFGBI	0.610847	0.59951	D	-0.563821335834389	0.20052	1.054245	-0.212765148747512	0.31076	1.755419	0.444172701715889	0.20480	0.732398	0.92422	0	0.653731	0.59785	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.46	5.46	0.80021	5.918000	0.69728	7.940000	0.75441	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.527	0.75650	688	0.59122	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	887.98	37	chr17	31230283	.	T	C	887.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.06;ReadPosRankSum=0.511;SOR=0.664	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1156	20	0	1	0
chr17	31305557	31305557	G	C	exonic	EVI2B	.	nonsynonymous SNV	EVI2B:NM_006495:exon2:c.C53G:p.T18R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.899	P	0.667	P	0.296	N	1.000	N	2.075	M	0.71	T	-0.883	T	0.169	T	0.563	0.709	7.778	-1.6	-0.422	-0.225	8.960	0.167	0.0279716985146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.009	0.66756	D	0.899	0.49514	P	0.667	0.53020	P	0.296132	0.14681	N	0.567108	1	0.08975	N	1.445	0.36358	L	0.71	0.51228	T	-4.04	0.74427	D	0.332	0.39659	-0.8834	0.49489	T	0.169	0.50923	T	10	0.23708972	0.40803	T	0.027972	0.50711	D	0.167	0.42761	.	.	0.5732715451	0.56994	0.6092105966567839	0.60853	0.254832840394	0.28066	0.291024386883	0.09071	T	0.087546	0.37967	T	-0.0860171	0.38730	T	-0.361334	0.37898	T	0.434924453496933	0.30242	T	0.437256	0.12012	T	0.26918203	0.49990	0.24307568	0.49743	0.26918203	0.49990	0.24307568	0.49742	-4.781	0.34369	T	.	.	0.115	0.23041	B	.;.	.;.	-0.121336	0.03515	0.666	0.91566653993582614	0.20845	0.07588	0.13599	N	AEFGBI	0.068862	0.13603	N	-0.395518325587869	0.25628	1.39262	-0.630082265985883	0.18722	1.001389	0.997372524262003	0.35551	0.67177	0.52595	0	0.702456	0.74545	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.24	-1.6	0.07977	-0.240000	0.08970	-0.214000	0.10826	-0.103000	0.15852	0.000000	0.06391	0.000000	0.08366	0.486000	0.28701	0.4885:0.0:0.5115:0.0	8.960	0.34999	792	0.45996	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1910.98	33	chr17	31305557	.	G	C	1910.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.364;DP=876;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=1.19;SOR=0.654	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1130	20	0	1	0
chr17	31318455	31318455	C	T	exonic	EVI2A	.	nonsynonymous SNV	EVI2A:NM_014210:exon2:c.G559A:p.G187S	.	.	434	1084	4	0	0	4	0.00184162	.	.	2743786	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.88	T	0.945	P	0.401	B	0.000	D	1.000	D	1.59	L	.	.	-0.974	T	0.085	T	0.343	3.589	18.28	5.71	2.688	3.511	8.376	0.186	0.00221487589611	0.0036	0.000998403	0.0032	0.0006	0.0020	0	0.0008	0.0044	0.0044	0.0031	0.0031177	482	154602	rs140933050	0.0044	0.0044	0.0045	0.0043	0.0052	0.0043	0.0043	0.0050	0.0050	0.0009	0.0013	3.827e-05	5.04e-05	0.0009	0.0031	0.0052	0.0034	0.0038	0.0027	0.0027	0.0028	0.0025	0.0046	0.0024	0.0024	0.0042	0.0040	0.0007	0.0110	0.0015	0	0	0	0.0068	0.0046	0.0047	0.0029	0.601	0.07187	T	0.329	0.22291	T	0.92	0.53279	P	0.401	0.44513	B	0.000032	0.55875	D	0.075402	1	0.81001	D	2.065	0.56745	M	.	.	.	0.3	0.04091	N	0.251	0.28381	-0.9740	0.36344	T	0.085	0.33213	T	9	0.011291891	0.00248	T	0.002215	0.04178	T	0.186	0.46104	.	.	0.149567049428	0.14543	0.1052482018265184	0.10454	0.184170319989	0.20708	0.534477293491	0.43664	T	0.005699	0.05149	T	-0.359577	0.04154	T	-0.285558	0.46232	T	0.0220123625858146	0.00910	T	0.544846	0.23175	T	0.07601338	0.17165	0.08526254	0.19673	0.07601338	0.17164	0.08526254	0.19672	-3.161	0.12010	T	.	.	0.166	0.44682	B	.;.;.;.	.;.;.;.	3.885830	0.56503	23.7	0.99743272409516015	0.83703	0.60362	0.31174	D	ALL	0.279661	0.39366	N	0.294980596914175	0.55894	3.75353	0.388529240826061	0.60856	4.27818	0.999999999999865	0.74766	0.666168	0.50170	0	0.504199	0.08210	0	0.005938	0.00136	3	0.421255	0.06892	1	.	.	5.71	5.71	0.89031	3.542000	0.53380	4.932000	0.46138	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.8342:0.0:0.1658	8.376	0.31604	845	0.36510	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2376.98	33	chr17	31318455	.	C	T	2376.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.22;DP=833;ExcessHet=0.0000;FS=2.995;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.39;ReadPosRankSum=-7.000e-01;SOR=0.969	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	20	0	1	0
chr17	31998960	31998960	G	A	exonic	SUZ12	.	nonsynonymous SNV	SUZ12:NM_001321207:exon15:c.G2108A:p.S703N	.	.	429	1083	10	0	0	10	0.00459559	.	.	3185523	SUZ12-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.0	B	0.0	B	0.247	N	0.998	N	0	N	0.85	T	-1.026	T	0.064	T	0.008	1.470	10.86	2.35	0.741	2.040	8.958	0.136	0.0047783526095	0.0011	0.000798722	0.0012	0.0004	0.0003	0	0.0005	0.0016	0.0012	0.0014	0.0010802	167	154602	rs140801412	0.0015	0.0015	0.0015	0.0015	0.0028	0.0014	0.0014	0.0018	0.0015	0.0002	0.0003	0.0070	0.0002	0.0003	0.0028	0.0016	0.0016	0.0010	0.0009	0.0009	0.0011	0.0007	0.0015	0.0008	0.0007	0.0011	0.0010	0.0004	0	0.0003	0.0052	0	0.0003	0	0.0013	0.0005	0.0015	0.056	0.38185	T	0.167	0.32783	T	0.0	0.02946	B	0.0	0.01387	B	0.247166	0.15587	N	0.626869	0.997689	0.22554	N	-0.345	0.03330	N	0.85	0.47130	T	0.02	0.06739	N	0.028	0.06454	-1.0265	0.21593	T	0.064	0.26562	T	10	0.0036052465	0.00065	T	0.004778	0.11941	T	0.136	0.36778	.	.	0.319921171382	0.31595	0.23082654051811535	0.22997	0.437537583899	0.43807	0.329932630062	0.14924	T	0.053521	0.29467	T	-0.625166	0.00102	T	-0.695412	0.06080	T	0.00577423715031776	0.00063	T	0.60234	0.22547	T	0.056145005	0.11007	0.06911373	0.14521	0.056145005	0.11007	0.06911373	0.14521	-4.532	0.31305	T	.	.	0.081	0.08272	B	.;.	.;.	2.519244	0.32554	19.08	0.79146443262946087	0.12611	0.86866	0.46242	D	AEFBHCI	0.155606	0.28082	N	-0.368622993232637	0.26593	1.452544	-0.175765444861462	0.32430	1.844957	2.33785120711251E-4	0.06095	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.77	2.35	0.28166	1.491000	0.35192	4.822000	0.45127	0.672000	0.70159	0.998000	0.41325	1.000000	0.68203	0.980000	0.58198	0.0668:0.1192:0.7045:0.1095	8.958	0.34991	955	0.09969	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	634.98	35	chr17	31998960	.	G	A	634.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.929;DP=687;ExcessHet=0.0000;FS=1.145;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=0.896;SOR=0.892	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1177	20	0	1	0
chr17	32206965	32206965	T	C	exonic	RHOT1	.	nonsynonymous SNV	RHOT1:NM_001033566:exon17:c.T1472C:p.V491A	.	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.045	B	0.099	B	0.000	D	1.000	D	1.685	L	0.02	T	-0.790	T	0.196	T	0.563	1.922	12.38	4.56	2.155	2.066	7.529	0.256	0.0166371201288	7.7e-05	0.00139776	0.0009	0	0	0	0	0.0002	0.0033	0.0058	0.0008538	132	154602	rs138851743	0.0006	0.0006	0.0005	0.0007	0.0046	0.0006	0.0005	0.0043	0.0041	3e-05	2.24e-05	3.832e-05	0	0	0.0016	0.0004	0.0005	0.0046	0.0003	0.0003	0.0003	0.0004	0.0062	0.0003	0.0002	0.0045	0.0039	7.216e-05	0	0	0	0	0	0	0.0003	0	0.0062	0.098	0.32929	T	0.123	0.38016	T	0.016	0.21781	B	0.099	0.30579	B	0.000052	0.53742	D	0.163445	1	0.81001	D	2.185	0.61350	M	0.02	0.62318	T	-3.1	0.63782	D	0.322	0.39861	-0.7904	0.55706	T	0.196	0.54985	T	10	0.010995269	0.00242	T	0.016637	0.37992	T	0.256	0.56694	.	.	0.759690669517	0.75750	0.6345731515009615	0.63391	0.71487367527	0.61908	0.547850489616	0.45554	T	0.417837	0.77036	T	-0.306642	0.08047	T	-0.211604	0.53542	T	0.0492299178485417	0.05365	T	0.90121	0.65680	D	0.4260584	0.62493	0.19060078	0.42472	0.4260584	0.62494	0.19060078	0.42471	-10.737	0.81490	D	.	.	0.190	0.51437	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.523557	0.49401	22.8	0.95451264331303054	0.26971	0.88282	0.48140	D	AEFDGBIJ	0.066282	0.12973	N	-0.046330674765726	0.39766	2.350443	0.110858520662703	0.45101	2.779496	0.981931811428335	0.30329	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.635259	0.50027	0	.	.	5.66	4.56	0.55644	2.058000	0.41001	4.957000	0.46318	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.18:0.0:0.82	7.529	0.26837	952	0.10565	MIRO domain;.;.;MIRO domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1160.98	45	chr17	32206965	.	T	C	1160.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=860;ExcessHet=0.0000;FS=3.462;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.10;ReadPosRankSum=1.39;SOR=0.966	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1105	20	0	1	0
chr17	32321248	32321248	C	T	exonic	RHBDL3	.	nonsynonymous SNV	RHBDL3:NM_001363835:exon8:c.C1133T:p.S378L,	.	.	422	1095	5	0	0	5	0.0022779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.002	B	0.002	B	.	.	1.000	N	.	.	-0.43	T	-0.958	T	0.121	T	0.057	2.313	13.69	-11.2	-2.402	-0.971	1.002	0.147	.	0.0004	0.000798722	0.0007	0	0.0004	0.0004	0	0.0002	0.0023	0.0034	0.0005239	81	154602	rs200744203	0.0006	0.0006	0.0005	0.0007	0.0042	0.0005	0.0005	0.0038	0.0037	0	8.945e-05	3.826e-05	0.0007	0	0.0014	0.0004	0.0004	0.0042	0.0003	0.0003	0.0003	0.0003	0.0037	0.0002	0.0002	0.0024	0.0020	2.405e-05	0	0.0001	0	0	0	0	0.0003	0	0.0037	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.43	0.69657	T	0.75	0.02007	N	.	.	-0.9584	0.39479	T	0.121	0.42058	T	8	0.0052678287	0.00115	T	.	.	.	0.147	0.38986	.	.	0.183819452728	0.17975	.	.	.	.	.	.	.	0.00646	0.05891	T	-0.55049	0.00290	T	-0.564355	0.15971	T	0.0167075810970935	0.00428	T	0.376562	0.08996	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.18331	B	.	.	-0.385169	0.02269	0.235	0.83689378121183922	0.14865	0.00722	0.03040	N	AEFDBI	0.031628	0.03420	N	-1.41421741166131	0.02513	0.1110872	-1.563874008089	0.01882	0.08580454	0.999999987625058	0.74766	0.706298	0.61202	0	0.573078	0.20572	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.6	-11.2	0.00099	-0.606000	0.05750	-3.025000	0.03129	-1.917000	0.00510	0.000000	0.06391	0.000000	0.08366	0.030000	0.13115	0.1951:0.2973:0.2015:0.3061	1.002	0.01387	939	0.14249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1697.98	33	chr17	32321248	.	C	T	1697.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=842;ExcessHet=0.0000;FS=2.975;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=0.832;SOR=0.962	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1343	20	0	1	0
chr17	32474816	32474816	G	T	exonic	PSMD11	.	nonsynonymous SNV	PSMD11:NM_001270482:exon8:c.G841T:p.G281W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	3.445	M	-1.0	T	0.376	D	0.589	D	0.882	4.661	25.7	5.2	2.698	9.190	16.260	0.613	0.0804131713779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.942	0.52977	P	0.753	0.56122	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.78	0.95251	H	-1.0	0.76037	T	-7.43	0.94843	D	0.809	0.80669	0.376	0.88732	D	0.589	0.85281	D	10	0.86807096	0.86059	D	0.080413	0.73454	D	0.782	0.92746	0.493	0.58048	0.737800549552	0.73545	0.8155746020591057	0.81513	1.76035964692	0.91122	0.907638669014	0.97242	D	0.479431	0.80884	T	0.401247	0.89986	D	0.338587	0.89859	D	0.999186336994171	0.96464	D	0.993101	0.97798	D	0.8357761	0.86307	0.7840474	0.87277	0.8357761	0.86309	0.7840474	0.87278	-14.127	0.93462	D	.	.	0.978	0.90926	P	.;.;.	.;.;.	6.288784	0.94951	34	0.99319733739824889	0.59317	0.98142	0.79959	D	AEFDBCI	0.953933	0.97064	D	0.697268921211665	0.79451	7.080829	0.709606973726974	0.83107	7.93605	0.999999991732678	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	9.310000	0.95328	11.713000	0.94685	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	16.260	0.82360	865	0.32612	Proteasome component (PCI) domain;Proteasome component (PCI) domain;Proteasome component (PCI) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	86.98	33	chr17	32474816	.	G	T	86.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.046e+00;DP=843;ExcessHet=0.0000;FS=80.880;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.66;ReadPosRankSum=1.12;SOR=6.665	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr17	32772809	32772809	T	C	exonic	MYO1D	.	nonsynonymous SNV	MYO1D:NM_001303279:exon5:c.A598G:p.S200G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.367	B	0.186	B	0.000	U	1.000	D	1.245	L	-0.67	T	-0.563	T	0.262	T	0.69	3.727	18.93	5.49	2.070	7.272	13.537	0.466	0.032246938522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.012	0.79402	D	0.238	0.30817	B	0.186	0.36104	B	0.000235	0.47286	U	0.000000	0.999956	0.52396	D	0.88	0.21560	L	-0.67	0.95458	T	-1.36	0.33798	N	0.868	0.86833	-0.5632	0.66282	T	0.262	0.63285	T	10	0.94663495	0.93990	D	0.032247	0.54125	D	0.466	0.76156	0.891	0.97367	0.918392079262	0.91757	0.6648944906029628	0.66426	0.298669409922	0.32248	0.602323949337	0.53232	T	0.463674	0.79953	T	0.292466	0.82359	D	0.18233	0.82130	D	0.773878216743469	0.44673	D	0.892511	0.80045	D	0.2297747	0.45720	0.18961799	0.42318	0.2297747	0.45720	0.18961799	0.42317	-7.313	0.56288	T	.	.	0.142	0.40666	B	.;.;.;.	.;.;.;.	4.253572	0.64587	24.7	0.99747483139176962	0.84002	0.96942	0.71786	D	ALL	0.878137	0.80321	D	0.232848962952929	0.52795	3.45168	0.377921116790731	0.60204	4.20566	0.999999998871527	0.74766	0.722319	0.85440	0	0.623229	0.53319	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	5.49	5.49	0.81022	7.209000	0.77424	7.870000	0.71911	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.537	0.61111	940	0.13648	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	73.11	44	chr17	32772809	.	T	C	73.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.023e+00;DP=1046;ExcessHet=0.1072;FS=181.922;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.53;ReadPosRankSum=0.288;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:84,17:101:41:.:.:0,41,1563	19	0	2	0
chr17	32780675	32780675	G	A	exonic	MYO1D	.	nonsynonymous SNV	MYO1D:NM_001303279:exon2:c.C205T:p.R69C	.	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.002	U	1.000	D	2.975	M	-2.35	D	0.732	D	0.816	D	0.805	2.954	15.85	3.35	1.149	2.289	9.599	0.676	0.216837336712	.	.	8.238e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs772579154	7.525e-06	7.524e-06	4.084e-06	1.1e-05	0.0003	4.04e-06	2.95e-06	6.092e-05	2.521e-05	2.987e-05	2.236e-05	0	0	0	0.0003	1.799e-06	4.967e-05	2.319e-05	2.631e-05	2.628e-05	1.286e-05	4.04e-05	0.0002	8.15e-06	5.15e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0.0005	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.001769	0.38052	U	0.000000	0.997148	0.81001	D	2.94	0.84723	M	-2.35	0.88066	D	-7.78	0.95870	D	0.787	0.78641	0.732	0.93569	D	0.816	0.93787	D	10	0.83986044	0.83140	D	0.216837	0.87579	D	0.676	0.88061	0.6	0.73105	0.894726152564	0.89368	0.7463535746699779	0.74581	1.12430380814	0.78398	0.828683197498	0.86361	D	0.634682	0.88722	D	0.211575	0.74979	D	0.162991	0.80990	D	0.96653151512146	0.67614	D	0.959404	0.85375	D	0.7000557	0.78059	0.44179094	0.67451	0.7000557	0.78061	0.44179094	0.67451	-10.62	0.77533	D	.	.	0.468	0.72148	A	.;.;.	.;.;.	5.897301	0.93986	33	0.99815214924015816	0.89885	0.78987	0.39058	D	AEFBI	0.513242	0.54112	D	0.251300212029414	0.53702	3.538085	0.0941751905598613	0.44256	2.71082	0.998089848149537	0.36406	0.706298	0.61202	0	0.709663	0.81188	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	4.34	3.35	0.37468	2.012000	0.40551	9.700000	0.81300	-0.242000	0.07441	0.985000	0.35982	1.000000	0.68203	0.972000	0.54974	0.0:0.0:0.619:0.381	9.599	0.38754	944	0.12746	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2160.98	47	chr17	32780675	.	G	A	2160.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=906;ExcessHet=0.0000;FS=4.816;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.85;ReadPosRankSum=1.39;SOR=0.397	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1282	20	0	1	0
chr17	32995583	32995583	T	C	exonic	SPACA3	.	nonsynonymous SNV	SPACA3:NM_173847:exon2:c.T209C:p.M70T,	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.0	B	0.001	B	0.110	N	1.000	N	0.345	N	-0.19	T	-1.035	T	0.113	T	0.042	0.032	4.180	-4.75	-0.661	-1.713	6.512	0.081	0.0169776042171	7.7e-05	.	1.648e-05	0	0	0	0	1.5e-05	0	6.056e-05	1.29e-05	2	154602	rs373641880	4.104e-06	4.104e-06	0	8.25e-06	2.319e-05	1.48e-06	9.7e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	3.597e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	0.18308	T	0.017	0.60337	D	0.0	0.02946	B	0.001	0.04355	B	0.110385	0.02634	N	2.240520	1	0.81001	D	1.085	0.27262	L	-0.18	0.65931	T	0.0	0.07008	N	0.073	0.04668	-1.0347	0.18951	T	0.113	0.40399	T	10	0.11667016	0.22014	T	0.016978	0.38486	T	0.081	0.23632	.	.	0.199424873507	0.19547	0.2687897984617369	0.26791	0.0868907429692	0.09802	0.308777153492	0.11722	T	0.002668	0.02055	T	-0.387687	0.02784	T	-0.697808	0.05946	T	0.0893057214933222	0.11134	T	0.9	0.65058	D	0.035170574	0.04089	0.089754626	0.21007	0.035170574	0.04089	0.089754626	0.21006	-8.657	0.65464	D	.	.	0.067	0.02609	B	.;.	.;.	-0.706690	0.01305	0.070	0.25183385749729964	0.01149	0.00448	0.02174	N	AEFDBI	0.031856	0.03487	N	-1.34249776745351	0.03203	0.1426935	-1.43336845271044	0.02924	0.1354382	0.982904082326201	0.30474	0.500041	0.20204	0	0.547309	0.14657	0	0.624306	0.44879	0	0.542086	0.14980	0	.	.	3.63	-4.75	0.03003	-2.835000	0.00810	-2.317000	0.03908	-0.218000	0.08083	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4914:0.3441:0.1645	6.512	0.21423	829	0.39537	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1487.98	34	chr17	32995583	.	T	C	1487.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.120e-01;DP=852;ExcessHet=0.0000;FS=1.465;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=0.392;SOR=0.876	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1257	20	0	1	0
chr17	34626316	34626316	A	C	exonic	TMEM132E	.	nonsynonymous SNV	TMEM132E:NM_001304438:exon2:c.A257C:p.E86A,	.	.	421	1083	17	1	0	19	0.00869565	.	.	1246008	not_specified|not_provided|Hearing_loss,_autosomal_recessive_99	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0032776,MedGen:C4760579,OMIM:618481	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.74	T	0.939	P	0.4	B	0.000	D	0.801	D	0.68	N	2.72	T	-1.035	T	0.024	T	0.358	2.819	15.39	4.91	1.830	4.343	13.729	0.105	0.0156382407016	0.0008	0.000399361	0.0015	0.0001	0.0002	0	0	0.0012	0.0031	0.0051	0.0010026	155	154602	rs147874855	0.0008	0.0008	0.0006	0.0009	0.0052	0.0007	0.0007	0.0048	0.0046	2.989e-05	0.0002	0.0124	2.522e-05	0	0.0038	0.0002	0.0014	0.0052	0.0005	0.0005	0.0005	0.0006	0.0048	0.0004	0.0004	0.0033	0.0028	2.406e-05	0	0.0003	0.0101	0.0002	0	0	0.0002	0.0005	0.0048	0.803	0.03093	T	0.225	0.25514	T	0.939	0.52645	P	0.4	0.44481	B	0.000001	0.84330	D	0.053822	0.800889	0.34509	D	0.46	0.12951	N	2.72	0.11947	T	-1.89	0.44094	N	0.524	0.55366	-1.0354	0.18731	T	0.024	0.10194	T	10	0.007769197	0.00176	T	0.015638	0.36485	T	0.105	0.29889	.	.	0.101711395817	0.09552	0.39177012133355504	0.39092	0.993255338325	0.74148	0.557775259018	0.46954	T	0.007693	0.19136	T	-0.502461	0.00554	T	-0.493574	0.23017	T	0.0385352489959301	0.03427	T	0.89921	0.70434	D	0.28336868	0.51369	0.3393668	0.59703	0.3814324	0.59420	0.36686766	0.62008	-2.705	0.07346	T	.	.	0.158	0.39613	B	.;.	.;.	4.169213	0.62671	24.5	0.98468867638673319	0.41826	0.93341	0.57958	D	AEFDBHCI	0.631466	0.61243	D	0.105800735716619	0.46734	2.909205	0.198485047167477	0.49764	3.175798	0.999829391747232	0.43622	0.59774	0.34471	0	0.59043	0.45803	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	4.91	4.91	0.63897	4.374000	0.59312	11.036000	0.85117	0.738000	0.86027	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	13.729	0.62258	970	0.06235	Transmembrane protein TMEM132, N-terminal;Transmembrane protein TMEM132, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1129.98	44	chr17	34626316	.	A	C	1129.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.208;DP=893;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.18;ReadPosRankSum=-2.400e-02;SOR=0.748	GT:AD:DP:GQ:PL	0/1:65,46:111:99:1144,0,1706	20	0	1	0
chr17	34627033	34627033	C	G	exonic	TMEM132E	.	nonsynonymous SNV	TMEM132E:NM_001304438:exon2:c.C974G:p.P325R,	.	.	419	1102	1	0	0	1	0.000453515	.	.	1630613	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.51	T	0.358	B	0.277	B	0.000	D	0.999	D	1.245	L	2.34	T	-1.094	T	0.034	T	0.107	4.065	20.9	5.35	2.484	3.417	18.052	0.109	.	0.0038	0.00139776	0.0011	0.0128	0.0005	0	0	1.537e-05	0	0	0.0010349	160	154602	rs112576629	0.0004	0.0004	0.0005	0.0004	0.0130	0.0004	0.0004	0.0120	0.0116	0.0130	0.0005	0	0	0	0.0009	5.396e-06	0.0020	1.159e-05	0.0035	0.0035	0.0036	0.0035	0.0126	0.0033	0.0032	0.0117	0.0113	0.0126	0	0.0006	0	0	0	0	2.941e-05	0.0028	0	0.003	0.68238	D	0.005	0.72224	D	0.358	0.33818	B	0.277	0.40197	B	0.000060	0.53742	D	0.000000	0.999299	0.46578	D	1.04	0.26193	L	2.34	0.16351	T	-1.48	0.36189	N	0.563	0.58713	-1.0943	0.04854	T	0.034	0.14596	T	10	0.007158965	0.00163	T	.	.	.	0.109	0.30843	.	.	0.0551355673512	0.04727	0.31254990450751574	0.31167	0.642950238852	0.57852	0.55015540123	0.45880	T	0.006614	0.19424	T	-0.588948	0.00170	T	-0.607728	0.12170	T	0.0233846625596626	0.01069	T	0.741226	0.36032	T	0.263829	0.49448	0.32274017	0.58211	0.23697758	0.46554	0.3480817	0.60452	.	.	.	.	.	0.111	0.21691	B	.;.	.;.	3.657678	0.51945	23.2	0.99801925666094471	0.88639	0.96277	0.68356	D	AEFDBHCI	0.512540	0.54071	D	0.0382103714501736	0.43602	2.649854	0.173922877070707	0.48424	3.058418	0.999999999244974	0.74766	0.582742	0.33608	0	0.563428	0.19063	0	0.61531	0.40942	0	0.530356	0.10902	0	.	.	5.35	5.35	0.76297	3.495000	0.53043	4.803000	0.44983	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.052	0.89276	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	943.98	44	chr17	34627033	.	C	G	943.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.060e+00;DP=806;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.11;ReadPosRankSum=2.06;SOR=0.737	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1084	20	0	1	0
chr17	34962068	34962068	G	T	exonic	ZNF830	.	stopgain	ZNF830:NM_052857:exon1:c.G502T:p.E168X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	.	.	.	.	0.005	N	1.000	D	.	.	.	.	.	.	.	.	.	3.652	18.57	5.65	2.941	2.937	15.093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005375	0.32858	N	0.259595	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.165	0.17416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.371961	0.88188	D	0.29652	0.88039	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.897145	0.95883	35	0.99579380219322688	0.72921	0.62130	0.31689	D	AEFDBHCI	0.034333	0.04233	N	0.742428890382476	0.82411	7.755829	0.524351031999228	0.69633	5.388293	0.999999999856352	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.627883	0.49187	0	.	.	5.65	5.65	0.86881	3.790000	0.55166	4.090000	0.41799	-0.153000	0.12021	0.973000	0.34540	1.000000	0.68203	0.045000	0.14751	0.0:0.0:1.0:0.0	15.093	0.71881	666	0.61362	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1383.98	39	chr17	34962068	.	G	T	1383.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.767e+00;DP=930;ExcessHet=0.0000;FS=1.507;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.36;ReadPosRankSum=-1.810e-01;SOR=0.863	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr17	35101332	35101332	C	T	exonic	RAD51D	.	nonsynonymous SNV	RAD51D:NM_133629:exon6:c.G436A:p.G146R	.	.	.	.	.	.	.	.	.	.	.	184816	not_provided|Hereditary_cancer-predisposing_syndrome|Breast-ovarian_cancer,_familial,_susceptibility_to,_4|Malignant_tumor_of_breast	MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0013669,MedGen:C3280345,OMIM:614291,Orphanet:145|MONDO:MONDO:0007254,MedGen:C0006142	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.1	T	0.901	P	0.303	B	0.000	N	1.000	D	1.39	L	1.07	T	-0.916	T	0.155	T	0.191	1.332	10.37	2.86	0.751	3.145	8.839	0.104	0.053981621464	.	0.000399361	4.951e-05	9.649e-05	0	0	0	3.002e-05	0	0.0002	5.17e-05	8	154602	rs181695922	2.668e-05	2.668e-05	1.497e-05	3.85e-05	0.0003	1.997e-05	1.754e-05	0.0002	0.0002	0	0	0	0	0	0	8.093e-06	6.623e-05	0.0003	2.626e-05	2.625e-05	1.285e-05	4.028e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.144	0.25255	T	0.088	0.43531	T	0.819	0.49677	P	0.303	0.41149	B	0.000034	0.55875	N	0.159732	0.99765	0.44071	D	1.99	0.53851	M	-0.07	0.63738	T	-5.11	0.83092	D	0.423	0.48689	-0.9159	0.46103	T	0.155	0.48550	T	10	0.10922873	0.20367	T	0.053982	0.65682	D	0.104	0.29647	0.497	0.58678	0.471372864162	0.46764	0.6626457633013113	0.66201	0.424303151291	0.42865	.	.	.	0.301988	0.67441	T	-0.330863	0.06047	T	-0.412715	0.31912	T	0.315674990415573	0.25645	T	0.777022	0.40965	T	0.25588295	0.48625	0.27082235	0.52977	0.25588295	0.48624	0.27082235	0.52976	-9.733	0.72297	D	0.3399321288650491	0.43771	0.278	0.51156	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.009657	0.40247	21.1	0.91600522304075149	0.20883	0.80141	0.39858	D	AEFDBI	0.157884	0.28346	N	-0.329060220079704	0.28049	1.54389	-0.322541511361205	0.27372	1.518384	0.0352333975520258	0.14191	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.86	2.86	0.32427	2.421000	0.44343	3.903000	0.40362	-0.171000	0.11205	0.789000	0.29582	0.999000	0.35428	0.381000	0.26357	0.0:0.8131:0.0:0.1869	8.839	0.34292	911	0.21964	.;.;.;DNA recombination and repair protein Rad51-like, C-terminal|AAA+ ATPase domain|Rad51/DMC1/RadA;DNA recombination and repair protein Rad51-like, C-terminal|AAA+ ATPase domain|Rad51/DMC1/RadA;.;.;DNA recombination and repair protein Rad51-like, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1161.98	33	chr17	35101332	.	C	T	1161.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.450;DP=812;ExcessHet=0.0000;FS=2.394;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.02;ReadPosRankSum=-6.000e-03;SOR=0.545	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1207	20	0	1	0
chr17	35193947	35193947	C	T	exonic	SLC35G3	.	nonsynonymous SNV	SLC35G3:NM_152462:exon1:c.G361A:p.A121T,	.	.	421	1085	16	0	0	16	0.0073193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.955	P	0.698	P	0.000	D	0.545	D	0.805	L	-1.1	T	-0.539	T	0.290	T	0.131	2.418	14.04	.	0.064	2.497	2.836	0.308	.	7.7e-05	0.00139776	0.0017	9.612e-05	0.0002	0.0001	0.0003	0.0004	0.0055	0.0105	0.0013907	215	154602	rs369083234	0.0009	0.0009	0.0005	0.0013	0.0114	0.0008	0.0008	0.0108	0.0106	5.975e-05	4.473e-05	0.0001	5.038e-05	0.0002	0.0035	0.0002	0.0011	0.0114	0.0005	0.0005	0.0002	0.0007	0.0093	0.0004	0.0003	0.0072	0.0064	0	0	0.0001	0	0.0002	0	0	0.0003	0.0005	0.0093	0.007	0.59928	D	0.023	0.57104	D	0.955	0.54515	P	0.698	0.54098	P	0.000229	0.47286	D	0.000000	0.544808	0.32084	D	1.79	0.46772	L	-1.1	0.77336	T	-1.54	0.37375	N	0.116	0.10483	-0.5393	0.67189	T	0.290	0.66201	T	9	0.011025786	0.00243	T	.	.	.	0.308	0.62947	.	.	0.671645247499	0.66887	0.5510402047279102	0.55030	0.44787081449	0.44639	0.494213670492	0.38024	T	0.037995	0.24681	T	-0.442901	0.01243	T	-0.399578	0.33432	T	0.0881991596123175	0.11002	T	0.79482	0.43725	T	0.0939453	0.22076	0.11235517	0.27110	0.0939453	0.22075	0.11235517	0.27109	-7.82	0.59837	D	.	.	0.131	0.28116	B	.	.	2.891714	0.38301	20.7	0.987620623018863	0.45831	0.08612	0.14517	N	AEFI	0.080430	0.16261	N	-0.404565427932355	0.25309	1.372915	-0.602053304007781	0.19440	1.043019	1.87457985573571E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	.	.	.	2.233000	0.42672	4.864000	0.45499	0.088000	0.17592	1.000000	0.71638	1.000000	0.68203	0.139000	0.19909	0.4983:0.5012:2.0E-4:3.0E-4	2.836	0.05174	919	0.19497	EamA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	6968.11	36	chr17	35193947	.	C	T	6968.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.440e-01;DP=1303;ExcessHet=0.1072;FS=1.097;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.25;MQRankSum=0.621;QD=11.97;ReadPosRankSum=0.442;SOR=0.811	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	19	0	2	0
chr17	35259519	35259519	G	A	exonic	SLFN5	.	nonsynonymous SNV	SLFN5:NM_001330183:exon2:c.G829A:p.V277I	.	.	426	1094	2	0	0	2	0.000913242	.	.	704089	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.1	T	0.016	B	0.022	B	0.008	N	1.000	N	0.205	N	1.56	T	-1.039	T	0.010	T	0.055	1.090	9.448	-6.7	-1.487	-1.236	7.129	0.019	.	0.0079	0.0081869	0.0024	0.0262	0.0014	0	0	5.993e-05	0.0011	6.058e-05	0.0023027	356	154602	rs114439106	0.0008	0.0008	0.0009	0.0007	0.0274	0.0008	0.0008	0.0259	0.0253	0.0274	0.0019	0	0	0	0.0003	7.104e-05	0.0017	0.0001	0.0075	0.0075	0.0074	0.0076	0.0259	0.0071	0.0070	0.0247	0.0241	0.0259	0	0.0036	0	0	0	0	4.41e-05	0.0033	0.0002	0.094	0.31383	T	0.156	0.31833	T	0.009	0.17332	B	0.006	0.19653	B	0.007768	0.01180	N	3.538540	1	0.08975	N	-0.345	0.03330	N	1.56	0.29602	T	-0.73	0.20576	N	0.118	0.10769	-1.0390	0.17617	T	0.010	0.03856	T	10	0.002502352	0.00038	T	.	.	.	0.019	0.03383	.	.	0.0138822411134	0.00435	0.12037043642033196	0.11964	0.0810453358943	0.09121	0.281307518482	0.07675	T	0.003357	0.02758	T	-0.714095	0.00030	T	-0.778252	0.02507	T	0.00144583714795579	0.00014	T	0.531747	0.20211	T	0.032261636	0.03219	0.03000826	0.01405	0.032261636	0.03218	0.03000826	0.01405	-4.062	0.26838	T	.	.	0.086	0.13221	B	.;.;.	.;.;.	-0.705339	0.01309	0.071	0.74357411122109995	0.10666	0.03630	0.08873	N	AEFBCI	0.019616	0.00698	N	-1.51282067017163	0.01765	0.07730379	-1.62306171199771	0.01521	0.06887464	0.79399098283258	0.24065	0.706548	0.73137	0	0.588015	0.36545	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.68	-6.7	0.01602	-1.893000	0.01700	-4.922000	0.01925	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.6519:0.0:0.2143:0.1337	7.129	0.24668	887	0.27948	Schlafen, AAA domain;Schlafen, AAA domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1669.98	33	chr17	35259519	.	G	A	1669.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.866e+00;DP=865;ExcessHet=0.0000;FS=1.956;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.12;ReadPosRankSum=-2.690e-01;SOR=0.757	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1125	20	0	1	0
chr17	35475054	35475054	C	T	exonic	SLFN12L	.	nonsynonymous SNV	SLFN12L:NM_001195790:exon4:c.G1636A:p.A546T	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	0.0	B	0.0	B	.	.	1.000	N	-1.7	N	3.98	T	-0.910	T	0.002	T	0.09	-1.594	0.014	-3.75	-0.324	0.799	2.148	0.020	0.00561416071454	.	.	1.108e-05	0	0	0	0	0	0	7.091e-05	6.5e-06	1	154602	rs775162288	7.53e-06	7.524e-06	4.086e-06	1.101e-05	0.0003	4.04e-06	2.95e-06	6.092e-05	2.521e-05	0	0	0	0.0001	0	0.0003	2.699e-06	1.657e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.749	0.04825	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.625	0.00404	N	3.88	0.03570	T	1.29	0.00961	N	0.016	0.00825	-0.9101	0.46842	T	0.002	0.00769	T	9	0.033647925	0.01547	T	0.005614	0.14500	T	0.020	0.03691	0.311	0.28451	0.0297737177859	0.01360	0.035600341224200346	0.03507	0.0224440031775	0.02262	0.298321098089	0.10152	T	0.021524	0.16743	T	-0.503071	0.00549	T	-0.787945	0.02222	T	0.0374341013083211	0.03232	T	0.471453	0.13989	T	0.020795846	0.00651	0.051301695	0.08229	0.020795846	0.00651	0.051301695	0.08228	-3.34	0.14936	T	.	.	0.065	0.02894	B	.;.;.	.;.;.	-0.809414	0.01089	0.048	0.12417631336787031	0.00215	0.00013	0.00170	N	AEFBI	0.012707	0.00146	N	-1.86752635266097	0.00400	0.01719953	-1.85352816135926	0.00603	0.02677052	0.0265700625037906	0.13720	0.562547	0.31514	0	0.653731	0.59785	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	2.15	-3.75	0.04087	0.158000	0.16239	-6.906000	0.01277	-2.281000	0.00328	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.478:0.1735:0.0:0.3484	2.148	0.03561	240	0.90628	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3983.98	52	chr17	35475054	.	C	T	3983.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.687e+00;DP=1159;ExcessHet=0.0000;FS=3.279;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.91;ReadPosRankSum=0.062;SOR=0.932	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1433	20	0	1	0
chr17	35478146	35478146	G	A	exonic	SLFN12L	.	nonsynonymous SNV	SLFN12L:NM_001195790:exon3:c.C1133T:p.P378L	.	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.565	P	0.064	B	.	.	1.000	N	1.32	L	3.95	T	-0.978	T	0.004	T	0.044	0.070	4.379	-1.09	-0.832	-1.301	5.490	0.029	.	0.0114	0.00439297	0.0073	0.0014	0.0122	0	0.0129	0.0140	0.0122	0.0005	0.0024967	386	154602	rs117367639	0.0093	0.0098	0.0094	0.0092	0.0107	0.0092	0.0091	0.0105	0.0105	0.0019	0.0061	0.0046	0	0.0119	0.0056	0.0107	0.0076	0.0004	0.0086	0.0086	0.0090	0.0081	0.0140	0.0082	0.0080	0.0133	0.0130	0.0024	0.0011	0.0065	0.0043	0	0.0109	0.0034	0.0140	0.0090	0.0004	0.074	0.34621	T	0.073	0.45110	T	0.565	0.38434	P	0.064	0.27215	B	.	.	.	.	1	0.08975	N	1.355	0.33814	L	3.85	0.03650	T	-1.78	0.42001	N	0.05	0.02179	-0.9783	0.35390	T	0.004	0.01400	T	9	0.0046623945	0.00098	T	.	.	.	0.029	0.06676	.	.	0.0138822411134	0.00435	0.0744660839113748	0.07382	0.0420540668612	0.04528	0.30456161499	0.11085	T	0.100059	0.40549	T	-0.735498	0.00022	T	-0.816944	0.01515	T	0.00201834093150594	0.00021	T	0.540346	0.18307	T	0.028287716	0.02144	0.044515748	0.05784	0.028287716	0.02144	0.044515748	0.05784	-3.446	0.17139	T	.	.	0.075	0.05845	B	.;.;.	.;.;.	0.122410	0.05197	1.709	0.44616923131574243	0.03443	0.00319	0.01677	N	AEFBI	0.022650	0.01160	N	-1.55612185547276	0.01499	0.06545565	-1.72114620926018	0.01047	0.04697938	0.0081806810878418	0.11625	0.614807	0.35715	0	0.53679	0.11191	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	1.27	-1.09	0.09397	-0.807000	0.04627	-1.847000	0.04619	-2.227000	0.00346	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4534:0.0:0.5466:0.0	5.490	0.16061	240	0.90628	.;.;.	.	.	.	.	rs117367639	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1387.98	77	chr17	35478146	.	G	A	1387.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.584;DP=1249;ExcessHet=0.0000;FS=0.859;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.03;ReadPosRankSum=1.19;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:78,0:78:99:.:.:0,120,1800	20	0	1	0
chr17	35478153	35478153	A	G	exonic	SLFN12L	.	nonsynonymous SNV	SLFN12L:NM_001195790:exon3:c.T1126C:p.S376P	.	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.991	D	0.934	D	.	.	1.000	N	1.365	L	3.83	T	-1.012	T	0.012	T	0.175	1.578	11.23	-0.012	-0.046	0.668	3.181	0.023	.	0.0114	0.00439297	0.0073	0.0014	0.0122	0	0.0129	0.0139	0.0122	0.0005	0.0027167	420	154602	rs117580717	0.0092	0.0098	0.0093	0.0091	0.0106	0.0091	0.0090	0.0104	0.0103	0.0018	0.0061	0.0047	0	0.0119	0.0056	0.0106	0.0076	0.0005	0.0086	0.0086	0.0091	0.0081	0.0141	0.0082	0.0080	0.0133	0.0130	0.0024	0.0011	0.0065	0.0043	0	0.0109	0.0034	0.0141	0.0090	0.0004	0.007	0.59928	D	0.088	0.48594	T	0.991	0.64070	D	0.934	0.66904	D	.	.	.	.	1	0.08975	N	1.72	0.44442	L	3.73	0.03982	T	-1.6	0.38540	N	0.05	0.02272	-1.0119	0.26322	T	0.012	0.04700	T	9	0.007549852	0.00171	T	.	.	.	0.023	0.04649	.	.	0.117506650769	0.11410	0.13273221207183752	0.13197	0.0966914335435	0.10917	0.345599353313	0.17271	T	0.125862	0.45185	T	-0.587309	0.00174	T	-0.604081	0.12471	T	0.0275106944214398	0.01618	T	0.354665	0.08016	T	0.20514667	0.42647	0.14884363	0.35167	0.20514667	0.42647	0.14884363	0.35166	-3.633	0.18891	T	.	.	0.070	0.04599	B	.;.;.	.;.;.	1.243243	0.16394	12.51	0.96402015259257812	0.29692	0.00840	0.03368	N	AEFBI	0.059837	0.11331	N	-0.499015071945743	0.22112	1.178476	-0.79485114765414	0.14621	0.7649108	0.00438238755227079	0.10527	0.614807	0.35715	0	0.53679	0.11191	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	1.27	-0.0121	0.13314	0.595000	0.23729	0.439000	0.18405	0.504000	0.22967	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.62:0.0:0.0:0.38	3.181	0.06192	240	0.90628	.;.;.	.	.	.	.	rs117580717	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1357.98	79	chr17	35478153	.	A	G	1357.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.600e-02;DP=1251;ExcessHet=0.0000;FS=0.854;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.19;ReadPosRankSum=1.73;SOR=0.874	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:78,0:78:99:.:.:0,120,1800	20	0	1	0
chr17	35557548	35557548	A	G	exonic	SLFN14	.	nonsynonymous SNV	SLFN14:NM_001129820:exon3:c.T515C:p.V172A,	Bleeding disorder, platelet-type, 20, Autosomal dominant	.	432	1028	59	3	0	65	0.0306459	.	.	704096	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.52	T	0.002	B	0.003	B	.	.	1.000	N	0.57	N	4.61	T	-0.904	T	0.003	T	0.024	-1.174	0.087	-5.53	-1.341	-0.046	8.190	0.010	.	0.0044	0.00299521	0.0061	0.0009	0.0024	0	0	0.0056	0.0158	0.0083	0.0014295	221	154602	rs139678049	0.0038	0.0036	0.0036	0.0040	0.0237	0.0037	0.0037	0.0204	0.0192	0.0009	0.0025	0.0041	2.798e-05	0.0045	0.0237	0.0036	0.0050	0.0073	0.0036	0.0036	0.0034	0.0038	0.0068	0.0033	0.0032	0.0050	0.0044	0.0007	0.0044	0.0050	0.0052	0.0002	0.0047	0.0374	0.0046	0.0052	0.0068	1.0	0.00964	T	0.915	0.02917	T	0.002	0.09854	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.46	0.12951	N	4.61	0.01851	T	0.05	0.06369	N	0.041	0.01421	-0.9040	0.47561	T	0.003	0.01059	T	9	0.0035861135	0.00065	T	.	.	.	0.010	0.01040	.	.	0.0138822411134	0.00435	0.11388721241845448	0.11316	.	.	0.366298258305	0.20299	T	0.001263	0.00750	T	-0.756657	0.00016	T	-0.855377	0.00894	T	0.00295827883729636	0.00031	T	0.285971	0.05105	T	0.03821189	0.05047	0.056199078	0.09999	0.03821189	0.05047	0.056199078	0.09999	-2.862	0.08769	T	0.09477351242601473	0.06379	0.09	0.12607	B	.	.	-0.844807	0.01022	0.043	0.54133050744978661	0.05077	0.01037	0.03880	N	AEFDGBI	0.047602	0.08034	N	-1.35534628661118	0.03070	0.1365609	-1.45076427652503	0.02763	0.1276862	0.999961712661618	0.48965	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.1	-5.53	0.02351	0.055000	0.14112	0.192000	0.15754	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.2592:0.151:0.5898:0.0	8.190	0.30522	0	0.99858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2106.98	33	chr17	35557548	.	A	G	2106.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.367;DP=876;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=1.42;SOR=0.676	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1299	20	0	1	0
chr17	35671790	35671790	A	G	exonic	AP2B1	.	nonsynonymous SNV	AP2B1:NM_001282:exon15:c.A2026G:p.T676A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.759	P	0.306	B	0.000	D	1.000	D	-0.145	N	1.6	T	-1.055	T	0.042	T	0.634	1.743	11.79	5.29	2.000	5.778	14.413	0.178	0.00209535651422	.	.	3.295e-05	0	0.0002	0	0	1.498e-05	0	6.056e-05	2.59e-05	4	154602	rs746621449	2.873e-05	2.873e-05	2.45e-05	3.3e-05	6.708e-05	2.152e-05	1.908e-05	2.455e-05	2.143e-05	2.987e-05	6.708e-05	0	0	0	0	3.328e-05	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.846	0.03548	T	0.0	0.07471	B	0.0	0.08700	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.505	0.13445	N	.	.	.	.	.	.	0.237	0.31590	-1.0547	0.13119	T	0.042	0.18035	T	10	0.15001169	0.28381	T	0.002095	0.03855	T	.	.	0.311	0.28451	0.753949860246	0.75172	0.4905236829706259	0.48972	.	.	0.676627635956	0.63785	T	0.295758	0.66841	T	-0.0423397	0.45600	T	-0.101623	0.63273	T	0.2297443151474	0.21939	T	0.743726	0.36507	T	0.09618816	0.22651	0.115226865	0.27814	0.09618816	0.22651	0.115226865	0.27813	-3.402	0.15083	T	.	.	0.060	0.01109	B	.;.;.;.	.;.;.;.	2.963037	0.39466	21.0	0.97173684619982859	0.32687	0.98302	0.81423	D	AEFBI	0.779066	0.71138	D	-0.257205066431301	0.30817	1.721906	-0.0155677911957697	0.39012	2.306702	0.999073281735736	0.38370	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.29	5.29	0.74430	5.766000	0.68494	6.781000	0.56583	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.413	0.66698	343	0.85802	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2162.98	33	chr17	35671790	.	A	G	2162.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.311;DP=991;ExcessHet=0.0000;FS=2.824;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=3.06;SOR=0.787	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1454	20	0	1	0
chr17	35750235	35750235	G	A	exonic	GAS2L2	.	nonsynonymous SNV	GAS2L2:NM_139285:exon2:c.C469T:p.R157W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.938	D	0.027	N	0.999	D	2.495	M	-3.61	D	0.669	D	0.859	D	0.653	3.893	19.79	1.8	0.540	3.267	4.006	0.664	0.173307095203	.	.	1.65e-05	0	8.642e-05	0	0	0	0	6.058e-05	1.29e-05	2	154602	rs782579678	6.158e-06	6.157e-06	1.362e-06	1.1e-05	0.0001	2.9e-06	2.1e-06	5.398e-05	4.044e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	1.0	0.90584	D	0.938	0.67350	D	0.027491	0.25748	N	0.334860	0.999102	0.46078	D	2.675	0.78361	M	-3.61	0.95043	D	.	.	.	0.633	0.64733	0.669	0.92786	D	0.859	0.95298	D	10	0.7744996	0.77348	D	0.173307	0.85004	D	.	.	0.724	0.85850	0.968726937471	0.96838	0.6944754438080788	0.69388	.	.	0.711376070976	0.68793	T	0.728254	0.92373	D	0.114852	0.65851	D	0.131	0.78944	D	0.795745448173567	0.46067	D	0.949005	0.81930	D	0.13787499	0.31908	0.12505463	0.30135	0.13787499	0.31908	0.12505463	0.30135	-10.985	0.79577	D	.	.	0.188	0.40473	B	.;.;.	.;.;.	4.685250	0.75020	26.3	0.9991021368416928	0.97949	0.88421	0.48341	D	AEFDBHCIJ	0.497238	0.53184	N	0.425902962031496	0.62850	4.508	0.321723667441635	0.56817	3.84584	0.991456473592574	0.32494	0.59774	0.34471	0	0.563428	0.19063	0	0.378051	0.06126	2	0.63947	0.58350	0	.	.	5.11	1.8	0.24069	3.374000	0.52132	3.727000	0.39605	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0794:0.1388:0.5017:0.2801	4.006	0.09092	456	0.79013	Calponin homology domain|Calponin homology domain|Calponin homology domain;Calponin homology domain|Calponin homology domain|Calponin homology domain;Calponin homology domain|Calponin homology domain|Calponin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3613.98	33	chr17	35750235	.	G	A	3613.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.198;DP=1250;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.48;ReadPosRankSum=-6.310e-01;SOR=0.683	GT:AD:DP:GQ:PL	0/0:95,0:95:99:0,120,1800	20	0	1	0
chr17	35844676	35844676	-	AGT	exonic	TAF15	.	nonframeshift insertion	TAF15:NM_003487:exon15:c.1368_1369insAGT:p.R456_G457insS	Chondrosarcoma, extraskeletal myxoid	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	.	.	.	rs765317328	3.79e-05	0.0001	3.835e-05	3.745e-05	0.0013	2.982e-05	2.675e-05	0.0010	0.0009	0	0	3.844e-05	0.0013	0	0.0002	1.807e-06	0	1.169e-05	1.35e-05	7.989e-05	0	2.766e-05	0.0004	2.24e-06	8.4e-07	7.183e-05	2.989e-05	0	0	0	0	0.0004	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	861.94	33	chr17	35844676	.	A	AAGT	861.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.940e-01;DP=830;ExcessHet=0.0000;FS=0.942;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=1.37;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,25:69:99:0|1:35844676_A_AAGT:876,0,1773:35844676	20	0	1	0
chr17	35998305	35998305	T	A	exonic	CCL15	.	nonsynonymous SNV	CCL15:NM_032965:exon3:c.A223T:p.S75C,	.	.	423	1085	14	0	0	14	0.00641026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.973	D	0.013	N	0.977	N	3.15	M	3.25	T	-1.054	T	0.073	T	0.278	2.951	15.84	3.47	0.889	0.326	6.229	0.041	0.00318906388844	0.0002	0.00159744	0.0011	9.903e-05	8.959e-05	0.0002	0	0.0004	0	0.0062	0.0009961	154	154602	rs143211795	0.0006	0.0006	0.0005	0.0008	0.0064	0.0006	0.0006	0.0060	0.0058	8.961e-05	0.0002	0	5.038e-05	0	0.0043	0.0002	0.0011	0.0064	0.0005	0.0005	0.0004	0.0005	0.0066	0.0004	0.0004	0.0048	0.0042	7.212e-05	0.0044	0.0007	0	0	0	0	0.0003	0.0019	0.0066	.	.	.	0.003	0.76473	D	.	.	.	.	.	.	0.013138	0.28942	N	0.318896	0.976693	0.25358	N	.	.	.	.	.	.	.	.	.	0.374	0.41557	-1.0545	0.13172	T	0.073	0.29419	T	10	0.00704509	0.00160	T	0.003189	0.06996	T	.	.	.	.	0.507628581994	0.50403	0.23880766748063578	0.23794	.	.	0.292410135269	0.09274	T	.	.	.	-0.433249	0.01417	T	-0.392358	0.34276	T	0.0884659804849433	0.11033	T	0.892211	0.62852	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517	0.65359	A	.	.	2.015607	0.25613	16.83	0.98351582615777566	0.40547	0.08384	0.14320	N	AEFGBI	0.341709	0.43810	N	0.0561639995524384	0.44426	2.716922	-0.19972960632193	0.31548	1.786348	0.0227841104908841	0.13457	0.487112	0.14033	0	0.491513	0.07743	0	0.573888	0.23631	0	0.567339	0.31927	0	.	.	4.55	3.47	0.38831	0.205000	0.17154	-1.298000	0.05782	0.665000	0.62972	0.003000	0.16062	0.000000	0.08366	0.008000	0.08271	0.0:0.1163:0.0:0.8837	6.229	0.19937	459	0.78817	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	730.98	35	chr17	35998305	.	T	A	730.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.15;ReadPosRankSum=-2.058e+00;SOR=0.716	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1251	20	0	1	0
chr17	36166162	36166162	C	G	exonic	TBC1D3B;TBC1D3D;TBC1D3G;TBC1D3H;TBC1D3I;TBC1D3L	.	nonsynonymous SNV	TBC1D3L:NM_001369500:exon13:c.G1483C:p.A495P	.	.	554	963	5	0	0	5	0.00258933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.977	D	0.726	P	0.205	U	1.000	N	0	N	2.47	T	-1.026	T	0.037	T	0.212	1.788	11.94	.	0.107	-0.095	.	0.057	0.00330790858622	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1421688407	0.0022	0.0030	0.0022	0.0022	0.0026	0.0022	0.0021	0.0017	0.0017	0.0002	0.0009	0.0253	2.522e-05	0.0084	0.0026	0.0018	0.0027	0.0005	0.0032	0.0031	0.0032	0.0032	0.0033	0.0029	0.0028	0.0029	0.0027	0.0004	0.0085	0.0009	0.0319	0	0.0155	0	0.0033	0.0018	0.0003	.	.	.	0.0	0.92824	D	0.977	0.58535	D	0.726	0.55126	P	0.204926	0.03346	U	4.049530	1	0.08975	N	0.805	0.20218	L	.	.	.	.	.	.	0.118	0.10769	-1.0265	0.21593	T	0.037	0.15986	T	8	0.0059387684	0.00133	T	0.003308	0.07359	T	.	.	0.433	0.48336	0.043077524339	0.03247	0.014489744751948279	0.01405	.	.	0.488563030958	0.37238	T	0.015175	0.12778	T	-0.344356	0.05092	T	-0.477374	0.24726	T	0.35944202542305	0.27387	T	0.718628	0.33152	T	0.13764189	0.31861	0.2370088	0.48987	0.13764189	0.31861	0.2370088	0.48986	-2.873	0.08876	T	.	.	0.123	0.25721	B	.	.	1.987498	0.25252	16.69	0.99269707133131924	0.57525	0.29642	0.23875	N	AEFHCI	0.051504	0.09106	N	-0.679724582598656	0.16601	0.8472234	-0.903593119990411	0.12009	0.6152854	1.45639810336036E-5	0.02871	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	.	.	.	0.890000	0.27931	-0.046000	0.12607	0.295000	0.18837	0.001000	0.13787	0.001000	0.17328	0.061000	0.16044	.	.	.	882	0.29131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	150.33	36	chr17	36166162	.	C	G	150.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.281;DP=878;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=33.06;MQRankSum=-2.156e+00;QD=1.03;ReadPosRankSum=-2.130e-01;SOR=0.743	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,100,1403	19	0	1	1
chr17	36166399	36166399	A	T	exonic	TBC1D3B;TBC1D3D;TBC1D3G;TBC1D3H;TBC1D3I;TBC1D3L	.	nonsynonymous SNV	TBC1D3L:NM_001369500:exon13:c.T1246A:p.C416S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.988	D	0.85	P	0.802	U	1.000	N	0.69	N	2.8	T	-0.994	T	0.030	T	0.137	1.369	10.50	.	0.149	0.201	.	0.038	0.0015353693878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.516	0.10607	T	0.988	0.62325	D	0.85	0.60657	P	0.801502	0.06772	U	1.270350	1	0.08975	N	0.895	0.22405	L	.	.	.	.	.	.	0.148	0.15046	-0.9944	0.31459	T	0.030	0.12848	T	8	0.13534811	0.25756	T	0.001535	0.02394	T	.	.	0.248	0.18447	0.043077524339	0.03247	0.022145393314928437	0.02166	.	.	0.504786014557	0.39495	T	0.016243	0.13465	T	-0.21833	0.18221	T	-0.551393	0.17192	T	0.154437720775604	0.17451	T	0.517348	0.16736	T	0.16471702	0.36697	0.24097952	0.49484	0.16471702	0.36697	0.24097952	0.49483	-2.185	0.03968	T	.	.	0.128	0.27192	B	.	.	1.381488	0.17928	13.45	0.79400152207908592	0.12724	0.00229	0.01284	N	AEFI	0.048057	0.08159	N	-0.762980539075014	0.14283	0.7102272	-1.01857566505615	0.09377	0.4661617	1.66154086287155E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	.	.	.	0.199000	0.17037	1.014000	0.23354	0.279000	0.18609	0.002000	0.15269	0.001000	0.17328	0.002000	0.04165	.	.	.	882	0.29131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	410.39	24	chr17	36166399	.	A	T	410.39	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.295e+00;DP=386;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0294;MLEAC=1;MLEAF=0.025;MQ=28.63;MQRankSum=1.38;QD=12.44;ReadPosRankSum=-1.658e+00;SOR=0.668	GT:AD:DP:GQ:PL	0/0:14,0:14:33:0,33,495	19	0	1	1
chr17	36166459	36166459	G	A	exonic	TBC1D3B;TBC1D3D;TBC1D3G;TBC1D3H;TBC1D3I;TBC1D3L	.	nonsynonymous SNV	TBC1D3L:NM_001369500:exon13:c.C1186T:p.R396W	.	.	854	666	2	0	0	2	0.00149925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.006	B	0.005	B	0.037	U	1.000	N	0	N	2.8	T	-1.000	T	0.014	T	0.068	-0.548	1.517	.	-1.351	-2.988	.	0.025	0.00303678376561	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1261322959	0.0043	0.0095	0.0042	0.0044	0.0097	0.0042	0.0041	0.0066	0.0056	0.0013	0.0012	0.0044	0.0001	0.0104	0.0097	0.0045	0.0052	0.0051	0.0005	0.0053	0.0007	0.0003	0.0010	0.0003	0.0003	0.0005	0.0004	0.0004	0	0.0002	0	0	0.0005	0	0.0008	0	0.0010	.	.	.	0.076	0.42614	T	0.006	0.13644	B	0.005	0.11217	B	0.037256	0.01830	U	3.742290	1	0.08975	N	0.55	0.14455	N	.	.	.	.	.	.	0.082	0.05799	-0.9999	0.29945	T	0.014	0.05417	T	8	0.046655566	0.03883	T	0.003037	0.06547	T	.	.	0.285	0.24280	0.043077524339	0.03247	0.04736729081309778	0.04679	.	.	0.469888746738	0.34664	T	0.059646	0.31171	T	-0.31402	0.07398	T	-0.688845	0.06457	T	0.124922193586826	0.14905	T	0.662034	0.27102	T	0.076892935	0.17418	0.054789677	0.09490	0.076892935	0.17418	0.054789677	0.09489	-5.019	0.37045	T	.	.	0.092	0.13737	B	.	.	0.734617	0.11040	7.694	0.89378065608881796	0.18745	0.00075	0.00520	N	AEFI	0.054260	0.09850	N	-1.68753855973778	0.00887	0.03838582	-1.76264038665202	0.00886	0.03962322	5.98549314846662E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	.	.	.	-0.291000	0.08379	-0.980000	0.06715	-2.119000	0.00386	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	882	0.29131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05	30.19	33	chr17	36166459	.	G	A	30.19	.	AC=2;AF=0.050;AN=40;DP=328;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5571;MLEAC=1;MLEAF=0.025;MQ=20.00;QD=15.10;SOR=2.303	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,795	19	1	0	1
chr17	36167565	36167565	G	T	exonic	TBC1D3B;TBC1D3D;TBC1D3G;TBC1D3H;TBC1D3I;TBC1D3L	.	nonsynonymous SNV	TBC1D3L:NM_001369500:exon12:c.C1060A:p.Q354K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.972	D	0.633	P	0.001	N	0.998	N	-0.08	N	3.07	T	-1.008	T	0.011	T	0.013	-2.289	0.004	.	0.172	0.427	.	0.092	0.00438524663176	.	.	0	.	.	.	.	.	.	.	.	.	.	rs306818	0.0004	0.0034	0.0004	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0.0002	5.407e-05	0.0010	0.0003	0.0010	0	0.0004	0.0004	2.203e-05	0.0014	0.0045	0.0014	0.0014	0.0025	0.0012	0.0012	0.0014	0.0013	0.0008	0.0088	0.0008	0.0021	0.0005	0.0043	0	0.0017	0	0.0025	.	.	.	0.46	0.12597	T	0.972	0.57405	D	0.633	0.51840	P	0.000949	0.40932	N	0.201240	0.997874	0.22465	N	0.315	0.10303	N	.	.	.	.	.	.	0.037	0.01135	-1.0085	0.27385	T	0.011	0.04274	T	8	0.004332632	0.00088	T	0.004385	0.10687	T	.	.	.	.	0.043077524339	0.03247	0.03486470633420488	0.03433	.	.	0.636937975883	0.58130	T	0.002727	0.02115	T	-0.327125	0.06332	T	-0.707669	0.05416	T	0.0190569054030232	0.00613	T	0.561944	0.19701	T	0.18691014	0.40121	0.09165506	0.21561	0.18691014	0.40121	0.09165506	0.21561	-5.659	0.43327	T	.	.	0.083	0.09385	B	.	.	-0.201008	0.03086	0.485	0.23630957227149563	0.01008	0.00097	0.00633	N	AEFI	0.021065	0.00898	N	-0.975851801036936	0.09121	0.4303983	-1.17772079884045	0.06283	0.3019641	1.18947969782771E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	.	.	.	0.554000	0.23113	-1.524000	0.05246	0.232000	0.18153	0.008000	0.17931	0.000000	0.08366	0.039000	0.14166	.	.	.	882	0.29131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	37.77	13	chr17	36167565	.	G	T	37.77	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.200e+00;DP=181;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0590;MLEAC=1;MLEAF=0.025;MQ=24.74;MQRankSum=2.20;QD=4.20;ReadPosRankSum=-2.200e+00;SOR=0.132	GT:AD:DP:GQ:PL	0/0:6,0:6:18:0,18,215	19	0	1	1
chr17	36437931	36437931	G	C	exonic	TBC1D3F;TBC1D3K	.	nonsynonymous SNV	TBC1D3K:NM_001291464:exon2:c.C51G:p.D17E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.714	P	0.267	B	0.168	N	1.000	N	0.945	L	1.47	T	-1.040	T	0.038	T	0.108	-0.761	0.783	.	.	-0.205	.	0.060	0.0126178259569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.416e-06	2.058e-06	0	2.838e-06	1.844e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.844e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.369	0.16522	T	.	.	.	.	.	.	0.167812	0.17465	N	0.534152	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.167	0.17691	-1.0402	0.17253	T	0.038	0.16548	T	7	0.10981706	0.20501	T	0.012618	0.31353	T	.	.	0.296	0.26041	0.0482279557977	0.04254	0.009715574982139657	0.00933	.	.	.	.	.	.	.	.	-0.23951	0.15411	T	-0.581816	0.14384	T	0.232943698763847	0.22090	T	0.694431	0.30396	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40683	B	.	.	0.468340	0.08381	5.133	0.69085478263318145	0.08860	0.01837	0.05695	N	AEFI	0.067886	0.13367	N	-0.554203557245633	0.20352	1.07224	-0.615375972667909	0.19098	1.023186	7.69288211797132E-6	0.01202	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	.	.	.	0.162000	0.16318	-3.142000	0.03026	0.457000	0.21530	0.001000	0.13787	0.000000	0.08366	0.014000	0.10232	.	.	.	739	0.53257	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	1579.33	34	chr17	36437931	.	G	C	1579.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-6.320e-01;DP=1021;ExcessHet=0.0000;FS=7.810;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=39.17;MQRankSum=-2.504e+00;QD=5.09;ReadPosRankSum=-9.610e-01;SOR=1.122	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	19	0	1	1
chr17	36500932	36500932	G	A	exonic	MYO19	.	nonsynonymous SNV	MYO19:NM_025109:exon19:c.C1675T:p.R559W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.987	D	0.401	B	0.714	N	1.000	D	2.35	M	-0.09	T	-0.469	T	0.277	T	0.26	3.313	17.14	5.12	2.532	2.586	12.246	0.267	0.131241261624	.	0.00179712	0.0007	0	9.261e-05	0	0	0	0	0.0050	0.0005951	92	154602	rs374876861	0.0003	0.0003	0.0002	0.0004	0.0048	0.0003	0.0003	0.0044	0.0043	2.988e-05	6.718e-05	0	0	0	0.0002	1.08e-05	0.0004	0.0048	0.0002	0.0002	0.0001	0.0003	0.0056	0.0001	0.0001	0.0040	0.0034	0	0	0	0	0	0	0	4.411e-05	0	0.0056	.	.	.	0.013	0.63109	D	0.941	0.61912	P	0.288	0.44513	B	0.714183	0.09989	N	0.812807	0.97767	0.25298	N	2.16	0.60381	M	.	.	.	.	.	.	0.349	0.43417	-0.4685	0.69777	T	0.277	0.64916	T	10	0.008021444	0.00182	T	0.131241	0.81347	D	.	.	0.52	0.62217	0.441740949975	0.43797	0.24035356249638337	0.23949	.	.	0.236466944218	0.02481	T	0.196238	0.55256	T	-0.402794	0.02220	T	-0.350958	0.39094	T	0.157200881667589	0.17662	T	.	.	.	0.22462642	0.45108	0.12765667	0.30727	0.22462642	0.45108	0.12765667	0.30726	-7.007	0.58485	T	.	.	0.090	0.22825	B	.;.	.;.	4.701934	0.75451	26.3	0.9988685468017926	0.96204	0.53590	0.29409	D	AEFDGBHCI	0.415770	0.48450	N	0.271290883550102	0.54698	3.634849	0.239599910768694	0.52060	3.383485	0.999964356702747	0.48965	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.12	5.12	0.69459	2.164000	0.42013	11.755000	0.95496	0.676000	0.76740	0.022000	0.19841	1.000000	0.68203	0.874000	0.41677	0.0:0.1713:0.8287:0.0	12.246	0.53883	710	0.56735	Myosin head, motor domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1842.98	33	chr17	36500932	.	G	A	1842.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=826;ExcessHet=0.0000;FS=3.308;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.29;ReadPosRankSum=2.38;SOR=1.035	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1265	20	0	1	0
chr17	36510746	36510746	C	T	exonic	MYO19	.	nonsynonymous SNV	MYO19:NM_001163735:exon13:c.G1157A:p.R386Q	.	.	.	.	.	.	.	.	.	1.0000	0.996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.993	D	0.69	P	0.002	N	1.000	D	2.145	M	-2.49	D	0.217	D	0.671	D	0.214	4.074	20.9	3.9	0.830	2.257	6.516	0.468	0.0319522017652	.	0.000199681	3.153e-05	0	0	0.0002	0	2.801e-05	0	0	2.59e-05	4	154602	rs562420156	9.669e-06	1.368e-05	5.481e-06	1.392e-05	5.109e-05	5.61e-06	4.39e-06	8.47e-06	3.17e-06	0	0	0	5.109e-05	0	0	7.247e-06	3.348e-05	2.378e-05	1.313e-05	1.312e-05	0	2.687e-05	0.0002	2.18e-06	8.2e-07	.	.	2.406e-05	0	0	0	0.0002	0	0	0	0	0	.	.	.	0.185	0.55341	T	0.993	0.65571	D	0.69	0.53781	P	0.001598	0.38554	N	0.000000	0.997984	0.44386	D	1.79	0.46772	L	.	.	.	.	.	.	0.319	0.35938	0.217	0.86200	D	0.671	0.88613	D	9	0.3066099	0.48170	T	0.031952	0.53903	D	.	.	0.729	0.86286	0.34854441366	0.34469	0.22149928116577206	0.22064	.	.	0.25506824255	0.04321	T	0.31161	0.68348	T	-0.114133	0.34087	T	-0.40172	0.33183	T	0.26005956530571	0.23317	T	.	.	.	0.06740259	0.14594	0.12351603	0.29782	0.06740259	0.14594	0.12351603	0.29781	-6.724	0.51991	T	.	.	0.074	0.15654	B	.;.	.;.	4.251762	0.64538	24.7	0.99871800792254484	0.94902	0.63825	0.32210	D	AEFDBHCI	0.181974	0.30929	N	0.090172139576721	0.46004	2.847712	-0.015606891363096	0.39009	2.306569	0.0402072300491118	0.14429	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.88	3.9	0.44240	2.355000	0.43761	1.449000	0.26590	0.599000	0.40250	1.000000	0.71638	0.872000	0.27604	0.107000	0.18608	0.1371:0.6591:0.1321:0.0717	6.516	0.21443	581	0.69614	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XIX myosin, motor domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1286.98	35	chr17	36510746	.	C	T	1286.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.340;DP=859;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.62;ReadPosRankSum=1.10;SOR=0.718	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr17	36607700	36607700	G	A	exonic	MRM1	.	nonsynonymous SNV	MRM1:NM_024864:exon3:c.G667A:p.G223S,	.	.	.	.	.	.	.	.	.	.	.	2672766	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.99	D	0.932	D	0.000	D	1.000	D	2.625	M	1.38	T	-0.566	T	0.243	T	0.847	5.149	32	5.56	2.615	6.266	16.229	0.430	0.03231910059	.	.	4.952e-05	0	0	0.0007	0	0	0	0	.	.	.	rs750600798	7.525e-06	7.524e-06	6.806e-06	8.251e-06	0.0003	4.04e-06	2.95e-06	6.092e-05	2.521e-05	0	0	0	0.0001	0	0.0003	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.66756	D	0.99	0.63424	D	0.932	0.66722	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.325	0.66631	M	.	.	.	.	.	.	0.893	0.91621	-0.5658	0.66181	T	0.243	0.61131	T	10	0.8555392	0.84749	D	0.032319	0.54176	D	.	.	0.748	0.87905	0.440077040801	0.43627	0.8870838796187946	0.88677	.	.	0.481673300266	0.36288	T	0.161086	0.50520	T	0.13604	0.67947	D	0.266503	0.86403	D	0.912871479988098	0.56894	D	.	.	.	0.40876243	0.61334	0.38587868	0.63494	0.40876243	0.61335	0.38587868	0.63494	-11.635	0.83028	D	.	.	0.353	0.61249	A	.;.	.;.	4.079799	0.60676	24.2	0.99892555760547552	0.96589	0.98987	0.89585	D	AEFDBI	0.673410	0.63948	D	0.813104161243374	0.86918	9.042388	0.779910408202395	0.88361	9.554211	0.999999999714782	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.56	5.56	0.83678	6.755000	0.74710	11.810000	0.96908	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.732000	0.35165	0.0:0.0:1.0:0.0	16.229	0.82140	806	0.43582	tRNA/rRNA methyltransferase, SpoU type;tRNA/rRNA methyltransferase, SpoU type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1341.98	40	chr17	36607700	.	G	A	1341.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.97;DP=795;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.28;ReadPosRankSum=-1.457e+00;SOR=0.708	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1461	20	0	1	0
chr17	36943072	36943072	G	T	exonic	LHX1	.	nonsynonymous SNV	LHX1:NM_005568:exon5:c.G1162T:p.A388S,	.	.	424	1046	51	1	0	53	0.0247086	.	.	3220315	LHX1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.001	B	0.002	B	0.005	N	0.987	D	-0.05	N	-2.53	D	-0.705	T	0.271	T	0.256	-0.276	2.677	2.64	0.535	4.733	10.425	0.231	.	0.0050	0.00419329	0.0083	0.0012	0.0034	0	0.0009	0.0088	0.0102	0.0205	0.0072638	1123	154602	rs145694637	0.0077	0.0077	0.0072	0.0082	0.0196	0.0076	0.0075	0.0185	0.0182	0.0013	0.0037	0.0172	5.052e-05	0.0017	0.0196	0.0074	0.0085	0.0193	0.0059	0.0059	0.0060	0.0057	0.0151	0.0055	0.0054	0.0123	0.0113	0.0015	0.0253	0.0058	0.0207	0	0.0017	0.0136	0.0079	0.0076	0.0151	.	.	.	0.409	0.14588	T	0.001	0.07471	B	0.002	0.06944	B	0.005395	0.32840	N	0.126788	0.987268	0.40562	D	-0.345	0.03330	N	.	.	.	.	.	.	0.282	0.31925	-0.7051	0.60193	T	0.271	0.64245	T	10	0.0046339035	0.00097	T	.	.	.	.	.	.	.	0.326616659874	0.32268	0.29329692418712267	0.29242	.	.	0.500427007675	0.38888	T	0.16499	0.51066	T	-0.456119	0.01039	T	-0.413023	0.31877	T	0.00293281693561552	0.00031	T	.	.	.	0.037977275	0.04970	0.12609625	0.30374	0.037977275	0.04970	0.12609625	0.30373	-2.713	0.07413	T	.	.	0.067	0.02399	B	.	.	2.377238	0.30511	18.46	0.91691799860359935	0.20984	0.98331	0.81705	D	AEFDBHCI	0.646313	0.62190	D	-0.837251310872801	0.12366	0.6023255	-0.655536489895803	0.18077	0.9640994	0.999973125585128	0.50053	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.73	2.64	0.30504	4.827000	0.62413	3.992000	0.40997	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.1677:0.0:0.8323:0.0	10.425	0.43557	567	0.70732	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1331.98	36	chr17	36943072	.	G	T	1331.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.632;DP=819;ExcessHet=0.0000;FS=0.761;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=-2.138e+00;SOR=0.582	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1376	20	0	1	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.796	P	0.741	P	0.000	D	1.000	D	1.91	M	-1.57	D	0.107	D	0.637	D	0.898	4.574	24.8	5.93	2.826	7.818	19.342	0.692	0.0171503242482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.17696	T	0.746	0.44790	P	0.557	0.55725	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	.	.	.	.	.	.	0.862	0.85872	0.107	0.84300	D	0.637	0.87289	D	10	0.7375028	0.74723	D	0.01715	0.38730	T	.	.	0.467	0.53891	0.877869702975	0.87668	0.9836152231955558	0.98353	.	.	0.872255206108	0.92889	D	0.780159	0.94189	D	0.432308	0.91648	D	0.383204	0.91545	D	0.977236747741699	0.71748	D	.	.	.	0.81459284	0.84857	0.6431959	0.79147	0.81459284	0.84859	0.6431959	0.79148	-9.549	0.74745	D	.	.	0.857	0.80134	P	.;.;.;.	.;.;.;.	5.294357	0.88888	29.8	0.9986442591158583	0.94276	0.98597	0.84519	D	AEFBI	0.820385	0.74119	D	0.627107990343815	0.74894	6.211086	0.69699622420893	0.82148	7.696462	0.999999997971713	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.93	5.93	0.95888	7.905000	0.86479	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.342	0.94335	689	0.59000	.;.;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	12960.74	97	chr17	37257713	.	C	T	12960.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.586;DP=2083;ExcessHet=54.0936;FS=453.130;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=6.37;ReadPosRankSum=-7.710e-01;SOR=14.039	GT:AD:DP:GQ:PL	0/1:47,52:99:99:472,0,514	0	0	21	0
chr17	37274294	37274294	G	A	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon7:c.C622T:p.R208C	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.019	B	0.064	B	0.021	N	1.000	D	1.445	L	-4.67	D	0.586	D	0.846	D	0.096	2.623	14.73	2.91	0.833	2.247	9.819	0.292	0.0270252479827	.	.	2.473e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs748194912	3.422e-05	3.557e-05	2.724e-05	4.127e-05	0.0002	2.633e-05	2.376e-05	7.999e-05	6.237e-05	0	8.944e-05	0	0	0	0.0002	2.879e-05	1.656e-05	0.0001	5.253e-05	5.25e-05	3.855e-05	6.714e-05	0.0002	2.556e-05	1.829e-05	3.244e-05	1.911e-05	9.63e-05	0	6.536e-05	0	0.0002	0	0	2.94e-05	0	0	.	.	.	0.068	0.44501	T	0.001	0.17989	B	0.003	0.27215	B	0.020802	0.26961	N	0.414749	0.999922	0.51308	D	1.5	0.37844	L	.	.	.	.	.	.	0.279	0.31590	0.586	0.91719	D	0.846	0.94860	D	10	0.16101277	0.30213	T	0.027025	0.49884	D	.	.	0.363	0.36874	0.231005064126	0.22704	0.8395033718791014	0.83910	.	.	0.253177762032	0.04109	T	0.494436	0.81758	T	-0.345826	0.04995	T	-0.50883	0.21437	T	0.185382990510192	0.19568	T	.	.	.	0.08937249	0.20880	0.06216139	0.12118	0.08937249	0.20879	0.06216139	0.12117	-9.153	0.73003	D	.	.	0.073	0.07554	B	.;.;.;.	.;.;.;.	3.569166	0.50261	22.9	0.99353605072807438	0.60697	0.76968	0.37794	D	AEFGBCI	0.279846	0.39380	N	-0.15364468157664	0.35080	2.01042	-0.00822369062392288	0.39343	2.331199	0.999645472450082	0.41316	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.96	2.91	0.32903	2.298000	0.43262	2.518000	0.33107	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.2231:0.0:0.7769:0.0	9.819	0.40035	693	0.58582	.;.;Biotin carboxylation domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1310.98	36	chr17	37274294	.	G	A	1310.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.610e+00;DP=811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=-1.502e+00;SOR=0.657	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1288	20	0	1	0
chr17	37710610	37710610	T	C	exonic	HNF1B	.	nonsynonymous SNV	HNF1B:NM_000458:exon5:c.A1099G:p.S367G	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Renal cysts and diabetes syndrome, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.0	B	0.01	B	0.000	D	1.000	D	1.78	L	-4.44	D	0.453	D	0.822	D	0.261	2.208	13.34	5.7	2.179	3.244	11.095	0.389	0.0606768328108	.	.	4.134e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs752182450	1.984e-05	1.984e-05	8.168e-06	3.163e-05	0.0003	1.392e-05	1.203e-05	0.0002	0.0002	0	0	0	0	0	0	0	3.313e-05	0.0003	6.574e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.411	0.23570	T	0.0	0.02946	B	0.002	0.06944	B	0.000000	0.84330	D	0.036625	0.999891	0.50595	D	0.91	0.23283	L	.	.	.	.	.	.	0.324	0.39962	0.453	0.89879	D	0.822	0.94026	D	10	0.14148974	0.26883	T	0.060677	0.68080	D	.	.	0.468	0.54052	0.403974779092	0.40011	0.6134989243307271	0.61281	.	.	0.456156849861	0.32785	T	0.497043	0.81908	T	-0.310914	0.07669	T	-0.379835	0.35741	T	0.13492747168581	0.15830	T	.	.	.	0.34695324	0.56829	0.42662102	0.66433	0.34695324	0.56830	0.42662102	0.66433	-4.95	0.36720	T	.	.	0.080	0.19919	B	.;.;.;.;.	.;.;.;.;.	3.243004	0.44281	21.9	0.99256783788431835	0.57055	0.86664	0.45993	D	ALL	0.577430	0.57903	D	-0.0910221782393488	0.37786	2.203382	0.0990115258372517	0.44500	2.730507	0.999999999999999	0.74766	0.556989	0.30585	1	0.487994	0.07600	2	0.488094	0.07640	1	0.616919	0.45865	0	.	.	5.7	5.7	0.88690	3.252000	0.51162	7.900000	0.73503	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0741:0.0:0.9259	11.095	0.47359	0	0.99858	Hepatocyte nuclear factor 1, beta isoform, C-terminal;Hepatocyte nuclear factor 1, beta isoform, C-terminal;Hepatocyte nuclear factor 1, beta isoform, C-terminal;Hepatocyte nuclear factor 1, beta isoform, C-terminal;Hepatocyte nuclear factor 1, beta isoform, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1302.98	33	chr17	37710610	.	T	C	1302.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.617;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-3.310e-01;SOR=0.760	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1236	20	0	1	0
chr17	38183566	38183566	T	C	exonic	TBC1D3;TBC1D3C;TBC1D3E;TBC1D3K	.	nonsynonymous SNV	TBC1D3C:NM_001001418:exon13:c.A1039G:p.M347V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1440423901	0.0006	0.0005	0.0007	0.0005	0.0097	0.0005	0.0005	0.0085	0.0080	0.0097	0.0014	0	0	0	0.0024	0	0.0012	2.531e-05	0.0039	0.0041	0.0044	0.0034	0.0058	0.0033	0.0030	0.0047	0.0044	0.0058	0	0.0048	0	0	0	0	0.0002	0.0079	0	.	.	.	0.045	0.49390	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.29889	.	.	.	.	.	.	.	0.034586012	0.01672	T	.	.	.	.	.	.	.	.	.	0.0894272524861055	0.08875	.	.	.	.	.	0.043011	0.26367	T	.	.	.	.	.	.	.	.	.	0.50395	0.15873	T	.	.	.	.	.	.	.	.	-8.125	0.61919	D	.	.	0.085	0.10400	B	.	.	0.052070	0.04652	1.307	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.549000	0.23037	-3.045000	0.03111	-0.900000	0.02330	0.080000	0.22340	0.000000	0.08366	0.004000	0.06068	.	.	.	250	0.90192	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05882	32.59	3	chr17	38183566	.	T	C	32.59	.	AC=2;AF=0.059;AN=34;DP=53;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3245;MLEAC=1;MLEAF=0.029;MQ=20.00;QD=16.29;SOR=2.303	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,50	16	1	0	4
chr17	38183597	38183597	C	A	exonic	TBC1D3;TBC1D3C;TBC1D3E;TBC1D3K	.	nonsynonymous SNV	TBC1D3C:NM_001001418:exon13:c.G1008T:p.E336D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs748503461	0.0004	0.0003	0.0004	0.0003	0.0035	0.0003	0.0003	0.0026	0.0023	0.0035	0.0006	0	0.0011	6.247e-05	0.0011	3.326e-05	0.0012	0.0002	0.0010	0.0018	0.0014	0.0006	0.0014	0.0006	0.0005	0.0009	0.0007	0.0014	0	0	0	0	0	0	0.0004	0	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.22486	.	.	.	.	.	.	.	0.05242291	0.05273	T	.	.	.	.	.	.	.	.	.	0.03713125335445186	0.03660	.	.	.	.	.	0.004334	0.03739	T	.	.	.	.	.	.	.	.	.	0.509849	0.16238	T	.	.	.	.	.	.	.	.	1.372	0.00093	T	.	.	0.066	0.02091	B	.	.	-0.874812	0.00968	0.038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.259000	0.08742	-10.797000	0.00665	-0.817000	0.03001	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	.	.	.	250	0.90192	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02941	70.26	3	chr17	38183597	.	C	A	70.26	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.834e+00;DP=49;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1125;MLEAC=1;MLEAF=0.029;MQ=20.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=-1.834e+00;SOR=1.329	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,50	16	0	1	4
chr17	38327075	38327075	G	T	exonic	GPR179	.	nonsynonymous SNV	GPR179:NM_001004334:exon11:c.C6494A:p.T2165K,	Night blindness, congenital stationary (complete), 1E, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1126173	not_provided|Congenital_stationary_night_blindness_1E	MedGen:C3661900|MONDO:MONDO:0013807,MedGen:C3281215,OMIM:614565,Orphanet:215	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.45	T	0.141	B	0.018	B	0.540	N	1.000	N	1.445	L	0.76	T	-1.024	T	0.091	T	0.131	1.463	10.84	1.6	0.205	0.775	6.826	0.009	0.00829742864425	0.0011	0.00139776	0.0005	0.0057	0.0002	0	0	1.498e-05	0	0.0001	0.0004786	74	154602	rs114844749	0.0001	0.0001	0.0002	0.0001	0.0047	0.0001	0.0001	0.0041	0.0039	0.0047	0.0002	0	0	0	0	1.529e-05	0.0004	2.319e-05	0.0014	0.0014	0.0013	0.0015	0.0048	0.0012	0.0012	0.0043	0.0041	0.0048	0	0.0005	0	0	0	0	1.47e-05	0.0009	0	.	.	.	0.823	0.03795	T	.	.	.	.	.	.	0.539728	0.11549	N	0.706661	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.218	0.24385	-1.0243	0.22311	T	0.091	0.34874	T	10	0.0043193996	0.00087	T	0.008297	0.21979	T	.	.	.	.	0.0482279557977	0.04254	0.1823857149423959	0.18157	.	.	0.224673479795	0.01597	T	.	.	.	-0.568622	0.00226	T	-0.588884	0.13762	T	0.0206646587936708	0.00766	T	0.387561	0.09552	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.24192	B	.;.	.;.	0.160887	0.05513	1.977	0.76448355518692002	0.11472	0.26365	0.22972	N	AEFGBCI	0.140991	0.26305	N	-1.05413881454229	0.07507	0.3489311	-1.09363206914681	0.07824	0.3821771	0.999942332320636	0.47345	0.559995	0.30671	0	0.624146	0.53433	0	0.536957	0.11973	0	0.631631	0.49550	0	.	.	4.75	1.6	0.22686	0.467000	0.21747	0.645000	0.20357	-0.807000	0.03101	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1582:0.0:0.7:0.1418	6.826	0.23068	121	0.95159	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	5826.98	34	chr17	38327075	.	G	T	5826.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.25;DP=1173;ExcessHet=0.0000;FS=0.522;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.69;ReadPosRankSum=-3.870e-01;SOR=0.628	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr17	38330051	38330051	C	G	exonic	GPR179	.	nonsynonymous SNV	GPR179:NM_001004334:exon11:c.G3518C:p.S1173T,	Night blindness, congenital stationary (complete), 1E, autosomal recessive, Autosomal recessive	.	1	1520	1	0	0	1	0.000328839	.	.	338202	not_provided|Congenital_stationary_night_blindness_1E|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0013807,MedGen:C3281215,OMIM:614565,Orphanet:215|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.506	P	0.074	B	0.001	N	1.000	N	0.975	L	0.42	T	-0.910	T	0.104	T	0.161	1.600	11.31	5.27	2.733	0.870	12.011	0.116	0.00983965543425	.	0.000798722	0.0003	0	0	0	0	0	0	0.0025	0.0002975	46	154602	rs565610587	0.0001	0.0001	5.853e-05	0.0002	0.0021	0.0001	0.0001	0.0019	0.0018	0	0	0	0	0	0	0	0.0002	0.0021	0.0001	0.0001	6.422e-05	0.0002	0.0037	7.569e-05	6.275e-05	0.0024	0.0020	0	0	0	0	0	0	0	0	0	0.0037	.	.	.	0.017	0.60337	D	.	.	.	.	.	.	0.001060	0.40475	N	0.178133	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.127	0.12055	-0.9099	0.46867	T	0.104	0.38169	T	10	0.004954815	0.00106	T	0.00984	0.25653	T	.	.	0.196	0.10839	0.306695030598	0.30287	0.09363119126085746	0.09295	.	.	0.318886816502	0.13253	T	.	.	.	-0.496143	0.00601	T	-0.490999	0.23286	T	0.0434551604656094	0.04320	T	0.552145	0.19060	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17103	B	.;.	.;.	2.072972	0.26359	17.09	0.98531890623032181	0.42607	0.16072	0.19217	N	AEFGBI	.	.	.	-0.23634567432978	0.31651	1.776975	-0.189037010113283	0.31938	1.812212	0.999313567037455	0.39113	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.27	5.27	0.73797	0.063000	0.14285	1.406000	0.26239	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.950000	0.49671	0.0:0.8263:0.1737:0.0	12.011	0.52579	125	0.94984	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	8253.98	35	chr17	38330051	.	C	G	8253.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.359e+00;DP=2152;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=0.106;SOR=0.694	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr17	38330277	38330277	G	A	exonic	GPR179	.	nonsynonymous SNV	GPR179:NM_001004334:exon11:c.C3292T:p.R1098W,	Night blindness, congenital stationary (complete), 1E, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1449664	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.002	N	0.791	D	0.975	L	-0.28	T	-0.374	T	0.306	T	0.496	3.123	16.44	3.36	0.797	0.713	6.187	0.171	0.0395460527567	.	.	8.614e-05	0	0	0.0007	0	0	0	0.0003	6.47e-05	10	154602	rs184187735	1.858e-05	1.984e-05	2.188e-05	1.524e-05	0.0003	1.272e-05	1.091e-05	0.0002	0.0002	3.012e-05	0	0	0.0003	0	0	4.517e-06	1.668e-05	8.196e-05	1.969e-05	1.968e-05	0	4.028e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.394e-05	0	0	0	0	0.0006	0	0	0	0	0	.	.	.	0.04	0.50809	D	.	.	.	.	.	.	0.001615	0.38497	N	0.176487	0.790887	0.34385	D	.	.	.	.	.	.	.	.	.	0.301	0.34012	-0.3742	0.72833	T	0.306	0.67658	T	10	0.06333372	0.08234	T	0.039546	0.58871	D	.	.	.	.	0.352476196916	0.34857	0.30441671778245144	0.30354	.	.	0.328656613827	0.14730	T	.	.	.	-0.303498	0.08334	T	-0.289257	0.45851	T	0.344783992193004	0.26813	T	0.868713	0.57175	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.41031	B	.;.	.;.	3.959254	0.58061	23.9	0.99917679447083463	0.98518	0.25058	0.22584	N	AEFDGBI	.	.	.	0.061671955794141	0.44681	2.737747	-0.0209620477998499	0.38769	2.288931	0.999279293667664	0.38974	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.38	3.36	0.37579	1.075000	0.30328	4.053000	0.41524	0.676000	0.76740	0.443000	0.26511	1.000000	0.68203	0.978000	0.57271	0.0932:0.0:0.7151:0.1917	6.187	0.19720	126	0.94940	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	5651.98	35	chr17	38330277	.	G	A	5651.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.81;DP=1407;ExcessHet=0.0000;FS=1.101;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=0.316;SOR=0.604	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr17	38343162	38343162	C	T	exonic	GPR179	.	nonsynonymous SNV	GPR179:NM_001004334:exon1:c.G628A:p.G210S,	Night blindness, congenital stationary (complete), 1E, autosomal recessive, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	877386	Congenital_stationary_night_blindness_1E|not_provided	MONDO:MONDO:0013807,MedGen:C3281215,OMIM:614565,Orphanet:215|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.04	D	0.487	P	0.015	B	0.259	N	1.000	N	1.5	L	0.79	T	-1.074	T	0.055	T	0.059	2.244	13.46	-0.816	-0.138	2.255	6.409	0.098	.	0.0040	0.0061901	0.0013	0.0154	0.0007	0	0	0	0	0	0.0014036	217	154602	rs148060036	0.0004	0.0004	0.0005	0.0004	0.0147	0.0004	0.0004	0.0137	0.0132	0.0147	0.0009	0	2.519e-05	0	0.0003	2.158e-05	0.0008	8.115e-05	0.0043	0.0043	0.0044	0.0042	0.0153	0.0040	0.0039	0.0143	0.0139	0.0153	0	0.0008	0	0	0	0	2.941e-05	0.0033	0	.	.	.	0.255	0.23365	T	.	.	.	.	.	.	0.259234	0.15348	N	0.634365	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.273	0.30914	-1.0736	0.08639	T	0.055	0.23072	T	10	0.006880194	0.00156	T	.	.	.	.	.	.	.	0.0551355673512	0.04727	0.39266084561367626	0.39181	.	.	0.279662907124	0.07445	T	.	.	.	-0.60399	0.00138	T	-0.627393	0.10614	T	0.0213549353818406	0.00838	T	0.757524	0.38090	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.21049	B	.;.	.;.	1.535168	0.19691	14.39	0.98099204983286037	0.38254	0.90591	0.51894	D	AEFGBI	0.337949	0.43558	N	-0.381474848933441	0.26130	1.423691	-0.407906605021664	0.24765	1.357992	0.00310497744140878	0.09929	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	4.95	-0.816	0.10292	2.332000	0.43561	0.240000	0.16296	0.599000	0.40250	0.939000	0.32602	0.000000	0.08366	0.752000	0.35857	0.0:0.5484:0.2483:0.2032	6.409	0.20883	177	0.93145	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2500.98	34	chr17	38343162	.	C	T	2500.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.38;DP=1037;ExcessHet=0.0000;FS=1.805;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.67;ReadPosRankSum=0.076;SOR=0.846	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1182	20	0	1	0
chr17	38343282	38343282	C	G	exonic	GPR179	.	nonsynonymous SNV	GPR179:NM_001004334:exon1:c.G508C:p.G170R,	Night blindness, congenital stationary (complete), 1E, autosomal recessive, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	877387	Congenital_stationary_night_blindness_1E|not_provided	MONDO:MONDO:0013807,MedGen:C3281215,OMIM:614565,Orphanet:215|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.01	D	0.926	P	0.556	P	0.015	N	1.000	N	2.045	M	-1.16	T	-0.583	T	0.267	T	0.153	2.735	15.11	3.95	1.394	0.992	9.029	0.245	.	0.0052	0.00519169	0.0018	0.0207	0.0009	0	0	1.499e-05	0.0011	0	0.0017464	270	154602	rs77937007	0.0006	0.0006	0.0006	0.0005	0.0190	0.0005	0.0005	0.0178	0.0173	0.0190	0.0013	0	0	0	0.0014	1.529e-05	0.0015	3.478e-05	0.0057	0.0057	0.0057	0.0056	0.0195	0.0054	0.0052	0.0184	0.0180	0.0195	0	0.0028	0	0	0	0	0	0.0057	0	.	.	.	0.023	0.57104	D	.	.	.	.	.	.	0.014840	0.28418	N	0.341532	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.477	0.51226	-0.5829	0.65502	T	0.267	0.63865	T	10	0.004958838	0.00106	T	.	.	.	.	.	0.204	0.11936	0.228597637076	0.22478	0.37903647266740226	0.37818	.	.	0.337994337082	0.16137	T	.	.	.	-0.484606	0.00696	T	-0.451959	0.27480	T	0.0355043945906175	0.02894	T	0.894111	0.63286	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.33710	B	.;.	.;.	2.411770	0.30999	18.61	0.99825373438790943	0.90764	0.32086	0.24499	N	AEFDBI	0.241702	0.36328	N	0.105476650818943	0.46719	2.907931	0.02380660261954	0.40822	2.442494	0.116617599489407	0.16782	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	4.95	3.95	0.44952	1.051000	0.30027	2.163000	0.30996	0.599000	0.40250	0.000000	0.06391	0.436000	0.24879	0.712000	0.34516	0.0:0.7511:0.1651:0.0838	9.029	0.35407	177	0.93145	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2729.98	34	chr17	38343282	.	C	G	2729.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.670;DP=945;ExcessHet=0.0000;FS=2.375;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=-9.320e-01;SOR=0.682	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1182	20	0	1	0
chr17	38466480	38466480	C	T	exonic	ARHGAP23	.	nonsynonymous SNV	ARHGAP23:NM_001199417:exon7:c.C797T:p.T266M,	.	.	404	1117	1	0	0	1	0.000447427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.83	P	.	.	1.000	N	1.04	L	2.68	T	-1.057	T	0.033	T	0.109	1.229	9.986	-1.94	-0.560	-0.038	3.727	0.093	.	.	0.00339457	0.0019	0.0142	0	0	0	0.0008	0	0	0.0003234	50	154602	rs182646905	0.0004	0.0004	0.0004	0.0003	0.0119	0.0004	0.0003	0.0109	0.0105	0.0119	0.0003	0.0013	2.82e-05	0	0	4.69e-05	0.0008	9.211e-05	0.0033	0.0033	0.0035	0.0031	0.0116	0.0031	0.0030	0.0108	0.0104	0.0116	0	0.0008	0.0009	0	0	0	7.351e-05	0.0014	0.0002	.	.	.	0.031	0.53788	D	0.047	0.73220	B	0.007	0.59611	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	.	.	.	.	.	.	0.136	0.13341	-1.0569	0.12543	T	0.033	0.14117	T	9	0.0044676363	0.00092	T	.	.	.	.	.	.	.	0.141422826196	0.13715	0.3961543504915006	0.39530	.	.	0.618238091469	0.55481	T	0.009287	0.08464	T	-0.576429	0.00203	T	-0.5891	0.13743	T	0.0368544102928004	0.03130	T	.	.	.	0.015019403	0.00118	0.071719505	0.15391	0.015019403	0.00118	0.071719505	0.15391	-5.88	0.45264	T	.	.	0.074	0.09578	B	.;.	.;.	0.802189	0.11727	8.306	0.97791065990055859	0.36001	0.09525	0.15261	N	AEFDBI	0.062034	0.11900	N	-0.778600002803528	0.13869	0.6864258	-0.889638687067064	0.12338	0.6341119	0.99996512055355	0.48965	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.97	-1.94	0.07158	-0.208000	0.09375	-2.579000	0.03586	-2.014000	0.00440	0.000000	0.06391	0.000000	0.08366	0.516000	0.29383	0.2659:0.3947:0.0:0.3394	3.727	0.08005	114	0.95383	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1757.98	41	chr17	38466480	.	C	T	1757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=1066;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=0.581;SOR=0.657	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,119,1609	20	0	1	0
chr17	38466897	38466897	C	T	exonic	ARHGAP23	.	nonsynonymous SNV	ARHGAP23:NM_001199417:exon7:c.C1214T:p.P405L,	.	.	.	.	.	.	.	.	.	.	.	3468168	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.73	T	0.002	B	0.001	B	.	.	1.000	N	0	N	2.68	T	-0.941	T	0.017	T	0.104	-0.428	2.009	1.28	0.402	0.160	4.973	0.022	0.00832096478708	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1410098330	4.864e-05	4.652e-05	4.094e-05	5.656e-05	0.0002	3.898e-05	3.567e-05	9.113e-05	6.506e-05	0	0.0002	0	0	0	0	4.727e-05	5.175e-05	8.835e-05	6.567e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.112	0.37037	T	0.002	0.09854	B	0.0	0.04355	B	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	.	.	.	.	.	.	0.134	0.13055	-0.9412	0.42426	T	0.017	0.06902	T	9	0.03828627	0.02237	T	0.008321	0.22029	T	.	.	0.231	0.15855	0.146414634003	0.14194	0.25991289324944716	0.25904	.	.	0.501628041267	0.39054	T	0.004627	0.04039	T	-0.483451	0.00706	T	-0.647507	0.09129	T	0.0146273691073044	0.00301	T	.	.	.	0.03941668	0.05437	0.06443517	0.12913	0.03941668	0.05436	0.06443517	0.12912	-4.737	0.34428	T	.	.	0.080	0.07937	B	.;.	.;.	1.497151	0.19252	14.17	0.69851121345638723	0.09105	0.13910	0.18119	N	AEFDBI	0.068337	0.13476	N	-1.13353639377066	0.06055	0.2777242	-1.10428447459337	0.07618	0.3712572	0.999950392462011	0.48110	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.83	1.28	0.20656	0.186000	0.16787	-0.356000	0.09709	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2299:0.5499:0.0:0.2202	4.973	0.13473	115	0.95340	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1120.98	44	chr17	38466897	.	C	T	1120.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.917;DP=1065;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.37;ReadPosRankSum=1.03;SOR=0.676	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,119,1609	20	0	1	0
chr17	38467128	38467128	C	T	exonic	ARHGAP23	.	nonsynonymous SNV	ARHGAP23:NM_001199417:exon7:c.C1445T:p.A482V,	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.165	B	0.024	B	0.990	N	1.000	N	0	N	2.85	T	-0.987	T	0.013	T	0.013	-0.295	2.593	2.19	0.426	1.648	13.949	0.115	.	.	0.00339457	0.0010	0.0108	0	0	0	0	0	0.0001	0.0002911	45	154602	rs140587590	0.0003	0.0003	0.0004	0.0003	0.0119	0.0003	0.0003	0.0109	0.0105	0.0119	0.0003	0	0	0	0	3.709e-06	0.0007	0.0001	0.0033	0.0033	0.0035	0.0031	0.0116	0.0031	0.0030	0.0108	0.0104	0.0116	0	0.0008	0	0	0	0	4.41e-05	0.0014	0	.	.	.	0.482	0.11829	T	0.154	0.28508	B	0.01	0.20255	B	0.989931	0.08037	N	0.994614	1	0.08975	N	0.69	0.16971	N	.	.	.	.	.	.	0.039	0.01274	-0.9871	0.33323	T	0.013	0.05273	T	10	0.003725022	0.00069	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.17612525119399688	0.17531	.	.	0.347442597151	0.17544	T	8.0E-4	0.00390	T	-0.681042	0.00047	T	-0.73937	0.03917	T	0.00665379673231962	0.00075	T	.	.	.	0.011371627	0.00016	0.041707546	0.04802	0.011371627	0.00016	0.041707546	0.04802	-4.889	0.35611	T	.	.	0.069	0.05317	B	.;.	.;.	0.353905	0.07267	3.872	0.85846110004164478	0.16149	0.26833	0.23106	N	AEFDBI	0.110922	0.21979	N	-1.47264962173548	0.02045	0.08988614	-1.42863604072024	0.02969	0.1376173	0.999967956288903	0.48965	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.22	2.19	0.26890	0.695000	0.25205	-0.450000	0.09105	-2.046000	0.00421	0.234000	0.24685	0.000000	0.08366	0.001000	0.02609	0.0:0.9125:0.0:0.0875	13.949	0.63613	115	0.95340	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1224.98	44	chr17	38467128	.	C	T	1224.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=1078;ExcessHet=0.0000;FS=1.512;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=1.27;SOR=0.549	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,119,1609	20	0	1	0
chr17	38510452	38510452	C	G	exonic	ARHGAP23	.	nonsynonymous SNV	ARHGAP23:NM_001199417:exon24:c.C3956G:p.A1319G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.944	P	0.478	P	.	.	1.000	N	1.15	L	2.44	T	-1.077	T	0.045	T	0.164	1.943	12.45	3.48	1.483	3.320	13.712	0.048	0.588007243411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.765e-06	5.473e-06	5.35e-06	1.994e-06	3.302e-06	8.8e-07	5.9e-07	8.8e-07	2.4e-07	0	0	0	0	0	0	3.302e-06	2.368e-05	0	6.705e-06	6.579e-06	1.309e-05	0	1.491e-05	0	0	.	.	0	0	0	0	0	0	0	1.491e-05	0	0	.	.	.	0.027	0.55341	D	0.944	0.53183	P	0.478	0.47030	P	.	.	.	.	0.987806	0.24479	N	2.175	0.60977	M	.	.	.	.	.	.	0.079	0.05414	-1.0765	0.08043	T	0.045	0.19437	T	9	0.28084832	0.45661	T	0.588007	0.96331	D	.	.	.	.	0.442672919754	0.43885	0.3208209668296267	0.31995	.	.	0.927289128304	0.98827	D	0.015034	0.12687	T	-0.106535	0.35342	T	-0.390807	0.34458	T	0.788256883621216	0.45575	D	.	.	.	0.2121467	0.43558	0.37942573	0.62998	0.2121467	0.43558	0.37942573	0.62998	-5.274	0.39685	T	.	.	0.428	0.61083	A	.	.	3.770791	0.54161	23.5	0.97511539048553708	0.34352	0.61978	0.31644	D	AEFDBHCIJ	0.208430	0.33451	N	0.0846516744171954	0.45749	2.826141	0.0374314084795725	0.41469	2.491826	0.999999999992192	0.74766	0.72623	0.87236	0	0.61073	0.52368	0	0.594344	0.31042	0	0.604282	0.37693	0	.	.	3.48	3.48	0.38946	2.391000	0.44078	3.182000	0.36662	0.430000	0.20916	0.978000	0.35038	1.000000	0.68203	0.495000	0.28905	0.0:1.0:0.0:0.0	13.712	0.62154	178	0.93097	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	329.98	29	chr17	38510452	.	C	G	329.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.670e-01;DP=733;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.38;ReadPosRankSum=0.417;SOR=0.741	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1000	20	0	1	0
chr17	38559641	38559641	G	C	exonic	SRCIN1	.	nonsynonymous SNV	SRCIN1:NM_025248:exon10:c.C1969G:p.L657V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.837	P	0.553	P	0.000	D	1.000	D	1.935	M	0.61	T	-0.791	T	0.172	T	0.561	3.701	18.80	5.01	2.346	6.108	11.386	0.127	0.0196171493864	0.0002	.	0.0006	0.0003	0.0002	0	0	0.0009	0	0.0005	0.0004786	74	154602	rs201844245	0.0010	0.0010	0.0010	0.0011	0.0012	0.0010	0.0010	0.0012	0.0011	0	6.719e-05	0.0001	0	4.443e-05	0	0.0012	0.0012	0.0007	0.0006	0.0006	0.0007	0.0005	0.0010	0.0005	0.0005	0.0008	0.0008	0.0003	0	0.0005	0	0	0	0	0.0010	0	0.0002	.	.	.	0.14	0.35082	T	.	.	.	.	.	.	0.000001	0.84330	D	0.000000	0.999997	0.58761	D	.	.	.	.	.	.	.	.	.	0.728	0.75283	-0.7914	0.55648	T	0.172	0.51389	T	10	0.18037546	0.33218	T	0.019617	0.42029	T	.	.	.	.	0.209943299407	0.20609	0.4357127211280416	0.43488	.	.	0.623174011707	0.56178	T	.	.	.	-0.215715	0.18581	T	-0.123169	0.61541	T	0.184447273612022	0.19511	T	.	.	.	0.25689653	0.48731	0.23732969	0.49028	0.25689653	0.48731	0.23732969	0.49027	-12.165	0.85646	D	.	.	0.363	0.57386	A	.;.	.;.	3.603170	0.50905	23.0	0.99650083406711953	0.77254	0.89656	0.50260	D	ALL	0.756527	0.69576	D	0.470075059074697	0.65351	4.811549	0.509136861893224	0.68602	5.242932	1.0	0.98316	0.685219	0.55550	0	0.552344	0.17405	0	0.674405	0.61402	0	0.63947	0.58350	0	.	.	5.01	5.01	0.66477	6.244000	0.72346	5.679000	0.49287	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.949000	0.49496	0.0889:0.0:0.9111:0.0	11.386	0.49026	192	0.92531	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1325.98	33	chr17	38559641	.	G	C	1325.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.080e-01;DP=779;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.00;ReadPosRankSum=0.352;SOR=0.708	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1393	20	0	1	0
chr17	38674170	38674170	T	A	exonic	EPOP	.	nonsynonymous SNV	EPOP:NM_001130677:exon1:c.A326T:p.D109V,	.	.	433	1075	11	3	0	17	0.00784495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.959	D	0.675	P	.	.	0.662	N	0.695	N	.	.	-0.979	T	0.074	T	0.482	3.776	19.17	1.14	0.356	0.019	3.956	0.113	.	.	0.00119808	0.0130	0	0	0	.	0	0	0.0190	0.0002975	46	154602	rs556372115	0.0006	0.0006	0.0004	0.0008	0.0089	0.0006	0.0005	0.0083	0.0081	0	0.0002	0	0	0	0.0032	0.0001	0.0008	0.0089	0.0004	0.0004	0.0002	0.0005	0.0087	0.0003	0.0003	0.0066	0.0059	2.412e-05	0	0	0	0	0	0.0034	0.0002	0	0.0087	.	.	.	0.18	0.29442	T	0.959	0.55135	D	0.675	0.53279	P	.	.	.	.	0.662495	0.30436	N	.	.	.	.	.	.	.	.	.	0.163	0.17140	-0.9791	0.35208	T	0.074	0.29834	T	8	0.0037613213	0.00070	T	.	.	.	.	.	.	.	0.482646159919	0.47895	0.1984311321445607	0.19760	.	.	.	.	.	0.005784	0.05228	T	-0.39038	0.02675	T	-0.326708	0.41834	T	0.16271990429096	0.18070	T	.	.	.	0.19246536	0.40917	0.20261697	0.44299	0.19246536	0.40917	0.20261697	0.44298	-3.066	0.10909	T	.	.	0.245	0.47944	B	.	.	2.607962	0.33864	19.46	0.99244838359822918	0.56662	0.06059	0.12030	N	AEFDGBHCI	0.040391	0.06003	N	-0.330507870004215	0.27994	1.540474	-0.448256377112887	0.23598	1.287748	0.999905503650973	0.45458	0.443343	0.08805	1	0.552344	0.17405	0	0.666236	0.60216	0	0.56751	0.32155	0	.	.	3.57	1.14	0.19817	-0.901000	0.04201	0.701000	0.20846	0.480000	0.22105	0.000000	0.06391	0.888000	0.27792	0.175000	0.21139	0.0:0.1292:0.2175:0.6533	3.956	0.08885	538	0.73119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1795.98	34	chr17	38674170	.	T	A	1795.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.057e+00;DP=798;ExcessHet=0.0000;FS=0.977;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=26.41;ReadPosRankSum=1.49;SOR=0.762	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,103,1172	20	0	1	0
chr17	38674178	38674178	C	A	exonic	EPOP	.	nonsynonymous SNV	EPOP:NM_001130677:exon1:c.G318T:p.E106D,	.	.	432	1076	11	3	0	17	0.00783771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.419	B	0.081	B	.	.	0.981	N	0.345	N	.	.	-1.055	T	0.045	T	0.049	2.921	15.73	2.56	0.583	0.123	8.991	0.021	.	.	0.00119808	0.0149	0	0	0	.	0	0	0.0221	0.0002781	43	154602	rs576284104	0.0006	0.0006	0.0004	0.0008	0.0088	0.0006	0.0005	0.0082	0.0080	0	0.0002	0	0	0	0.0032	0.0001	0.0008	0.0088	0.0004	0.0004	0.0002	0.0005	0.0087	0.0003	0.0003	0.0066	0.0059	2.407e-05	0	0	0	0	0	0.0034	0.0002	0	0.0087	.	.	.	0.521	0.10429	T	0.419	0.35307	B	0.081	0.28987	B	.	.	.	.	0.981355	0.25045	N	.	.	.	.	.	.	.	.	.	0.059	0.03069	-1.0546	0.13145	T	0.045	0.19152	T	8	0.0043201447	0.00087	T	.	.	.	.	.	0.103	0.01643	0.0551355673512	0.04727	0.06537897762903715	0.06476	.	.	.	.	.	0.006124	0.05559	T	-0.62245	0.00106	T	-0.661051	0.08195	T	0.034085000609222	0.02652	T	.	.	.	0.05205569	0.09652	0.1286882	0.30956	0.05205569	0.09651	0.1286882	0.30955	-4.53	0.31279	T	.	.	0.135	0.29422	B	.	.	0.694670	0.10635	7.334	0.98726449932449811	0.45289	0.26493	0.23009	N	AEFDGBHCI	0.065866	0.12869	N	-0.685075973955876	0.16446	0.8380174	-0.659382905496746	0.17981	0.9584895	0.999987481268647	0.51787	0.652421	0.48094	0	0.748881	0.99253	0	0.503968	0.08637	0	0.56751	0.32155	0	.	.	3.57	2.56	0.29842	-0.068000	0.11519	0.188000	0.15711	0.434000	0.20985	0.020000	0.19661	0.979000	0.30280	0.189000	0.21571	0.0:0.7712:0.2288:0.0	8.991	0.35183	538	0.73119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1792.98	34	chr17	38674178	.	C	A	1792.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.499e+00;DP=797;ExcessHet=0.0000;FS=2.088;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=25.99;ReadPosRankSum=1.15;SOR=0.706	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,103,1172	20	0	1	0
chr17	38674288	38674288	G	C	exonic	EPOP	.	nonsynonymous SNV	EPOP:NM_001130677:exon1:c.C208G:p.L70V,	.	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.906	P	0.418	B	.	.	0.997	N	0.695	N	.	.	-1.066	T	0.046	T	0.181	3.896	19.81	1.32	0.090	0.777	4.931	0.039	.	.	0.00299521	.	.	.	.	.	.	.	.	0.0008452	22	26028	rs541031175	0.0002	0.0002	0.0002	0.0002	0.0080	0.0002	0.0002	0.0072	0.0069	0.0080	0.0002	0	0	0	0.0005	5.607e-06	0.0005	1.305e-05	0.0024	0.0024	0.0027	0.0021	0.0084	0.0022	0.0021	0.0077	0.0074	0.0084	0	0.0002	0	0	0	0	1.473e-05	0.0028	0	.	.	.	0.598	0.07999	T	0.906	0.49993	P	0.418	0.45020	B	.	.	.	.	0.996875	0.22872	N	.	.	.	.	.	.	.	.	.	0.059	0.03069	-1.0658	0.10362	T	0.046	0.19599	T	8	0.003448844	0.00061	T	.	.	.	.	.	.	.	0.104622674875	0.10061	0.05701012719120225	0.05642	.	.	.	.	.	0.009157	0.08356	T	-0.480247	0.00737	T	-0.456079	0.27028	T	0.0218783184136125	0.00896	T	.	.	.	0.03270835	0.03348	0.08338729	0.19106	0.03270835	0.03348	0.08338729	0.19106	-4.982	0.36644	T	.	.	0.109	0.20780	B	.	.	2.350663	0.30139	18.34	0.99602608146133431	0.74278	0.41794	0.26736	N	AEFDGBHCI	0.062972	0.12139	N	-0.346921747503724	0.27386	1.502083	-0.411483002497527	0.24660	1.351642	0.999933886900258	0.46732	0.652421	0.48094	0	0.748881	0.99253	0	0.619478	0.44681	0	0.56751	0.32155	0	.	.	3.48	1.32	0.20897	0.944000	0.28641	3.299000	0.37367	0.566000	0.28629	0.612000	0.27847	1.000000	0.68203	0.580000	0.30894	0.1296:0.2173:0.6531:0.0	4.931	0.13271	538	0.73119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	527.98	34	chr17	38674288	.	G	C	527.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.099e+00;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.54;ReadPosRankSum=-4.820e-01;SOR=0.593	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,108,1556	20	0	1	0
chr17	38722125	38722125	A	G	exonic	MLLT6	.	nonsynonymous SNV	MLLT6:NM_005937:exon17:c.A2690G:p.N897S,	.	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.993	D	0.956	D	0.000	D	1.000	D	1.5	L	2.26	T	-1.102	T	0.084	T	0.149	3.153	16.55	4.48	1.882	7.031	12.742	0.115	0.0141532350116	.	0.00199681	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs185161404	0.0003	0.0003	0.0004	0.0003	0.0144	0.0003	0.0003	0.0132	0.0127	0.0144	0.0008	0	0	0	0	2.293e-05	0.0008	8.847e-05	0.0040	0.0040	0.0039	0.0040	0.0140	0.0037	0.0036	0.0130	0.0126	0.0140	0	0.0010	0	0	0	0	7.37e-05	0.0019	0	.	.	.	0.392	0.15406	T	0.993	0.65571	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	0.999613	0.47849	D	1.38	0.34346	L	.	.	.	.	.	.	0.526	0.55540	-1.1021	0.03846	T	0.084	0.32729	T	10	0.010007888	0.00224	T	0.014153	0.34071	T	.	.	.	.	0.359705090764	0.35578	0.46554291628590905	0.46473	.	.	0.797406852245	0.81569	T	0.175026	0.52446	T	-0.433749	0.01408	T	-0.385439	0.35085	T	0.0478618358433374	0.05119	T	0.836416	0.50788	T	0.31094652	0.53868	0.20617108	0.44820	0.31094652	0.53868	0.20617108	0.44819	-2.896	0.09103	T	.	.	0.094	0.14385	B	.	.	4.012986	0.59210	24.1	0.99629843588999689	0.75959	0.96857	0.71316	D	AEFBCI	0.695418	0.65409	D	0.598752578802338	0.73095	5.910712	0.576702042687613	0.73272	5.943663	0.991854231064421	0.32632	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	4.48	4.48	0.53973	5.551000	0.66980	11.109000	0.86285	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	12.742	0.56635	580	0.69689	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	233.98	12	chr17	38722125	.	A	G	233.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.579e+00;DP=425;ExcessHet=0.0000;FS=3.624;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.36;ReadPosRankSum=0.931;SOR=0.248	GT:AD:DP:GQ:PL	0/0:21,0:21:57:0,57,855	20	0	1	0
chr17	38730405	38730405	G	C	exonic	CISD3	.	nonsynonymous SNV	CISD3:NM_001136498:exon1:c.G47C:p.R16P,	.	.	487	1033	2	0	0	2	0.000967118	0.0010	0.008	2376341	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.014	B	0.001	B	.	.	1.000	N	0	N	.	.	-1.029	T	0.053	T	0.161	2.201	13.32	1.03	0.322	0.378	7.888	0.022	0.00713989975982	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs535247574	0.0001	0.0002	0.0001	0.0002	0.0046	0.0001	0.0001	0.0038	0.0036	0	0	0	0	0	0.0014	1.538e-05	0.0007	0.0046	0.0002	0.0002	0.0001	0.0003	0.0054	0.0001	0.0001	0.0038	0.0032	0	0	0	0	0	0	0	2.955e-05	0	0.0054	.	.	.	0.154	0.32040	T	0.014	0.16867	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	.	.	.	.	.	.	0.139	0.13769	-1.0286	0.20908	T	0.053	0.22423	T	8	0.010851592	0.00240	T	0.00714	0.18924	T	.	.	0.29	0.25081	0.0986583533028	0.09354	0.3821550060478252	0.38130	.	.	0.478506267071	0.35851	T	8.14E-4	0.00397	T	-0.193561	0.21737	T	-0.515814	0.20720	T	0.0583147226554417	0.06900	T	.	.	.	0.5977935	0.72572	0.5850668	0.75939	0.5977935	0.72574	0.5850668	0.75940	-3.743	0.19955	T	.	.	0.103	0.18331	B	.	.	1.452964	0.18743	13.90	0.74136522411661965	0.10583	0.18169	0.20148	N	AEFGBHCIJ	0.560662	0.56897	D	-0.978848937648243	0.09056	0.4270533	-0.976253448642809	0.10320	0.51902	0.999999999597128	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.581474	0.35302	0	.	.	3.16	1.03	0.19161	0.868000	0.27635	0.935000	0.22809	0.505000	0.23025	0.522000	0.27127	0.001000	0.17328	0.004000	0.06068	0.0:0.0:0.5554:0.4446	7.888	0.28824	572	0.70300	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	236.99	9	chr17	38730405	.	G	C	236.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.430e-01;DP=339;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0251;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.87;ReadPosRankSum=-8.700e-01;SOR=0.760	GT:AD:DP:GQ:PL	0/0:24,0:24:72:0,72,691	20	0	1	0
chr17	38764133	38764133	T	C	exonic	PSMB3	.	nonsynonymous SNV	PSMB3:NM_002795:exon6:c.T584C:p.I195T,	.	.	437	1074	10	1	0	12	0.00555556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.044	B	0.163	B	0.000	D	1.000	D	1.73	L	0.93	T	-0.942	T	0.129	T	0.86	3.162	16.58	5.34	2.032	8.024	12.687	0.417	0.0171098515087	0.0003	0.000399361	0.0011	9.735e-05	0	0.0001	0	0.0003	0.0033	0.0066	0.0008797	136	154602	rs200486857	0.0006	0.0006	0.0004	0.0008	0.0066	0.0006	0.0006	0.0061	0.0060	0	6.708e-05	0.0005	0	1.872e-05	0.0040	0.0002	0.0009	0.0066	0.0004	0.0004	0.0003	0.0004	0.0062	0.0003	0.0003	0.0045	0.0039	4.81e-05	0	0.0001	0.0009	0	0	0.0068	0.0002	0.0005	0.0062	.	.	.	0.09	0.40267	T	0.044	0.21686	B	0.163	0.34892	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.7	0.43825	L	.	.	.	.	.	.	0.837	0.83269	-0.9418	0.42330	T	0.129	0.43787	T	10	0.013218582	0.00281	T	0.01711	0.38673	T	.	.	.	.	0.311889312631	0.30795	0.9525385428532421	0.95237	.	.	0.859771370888	0.91077	D	0.345501	0.71388	T	0.0375635	0.56725	T	0.284767	0.87381	D	0.0470832311135717	0.04980	T	.	.	.	0.7744769	0.82317	0.40355882	0.64807	0.7744769	0.82319	0.40355882	0.64807	-7.633	0.58541	D	.	.	0.565	0.67416	P	.	.	4.857765	0.79462	27.1	0.99345137566987585	0.60331	0.97582	0.75697	D	AEFBCI	0.945944	0.95484	D	0.184895578582469	0.50474	3.237045	0.334079985156535	0.57554	3.92151	0.992659031619117	0.32919	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.34	5.34	0.75982	8.001000	0.88013	7.776000	0.68567	0.641000	0.52212	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	12.687	0.56316	483	0.77230	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1426.98	34	chr17	38764133	.	T	C	1426.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.099e+00;DP=805;ExcessHet=0.0000;FS=2.669;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=1.56;SOR=0.441	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	20	0	1	0
chr17	38815020	38815020	C	T	exonic	CWC25	.	nonsynonymous SNV	CWC25:NM_017748:exon3:c.G269A:p.R90H,	.	.	430	1087	5	0	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.997	D	0.000	D	1.000	D	2.82	M	.	.	0.212	D	0.547	D	0.854	5.171	32	5.32	2.518	7.070	17.577	0.815	0.0334707954884	0.0002	0.00119808	0.0008	0	0	0	0	0.0002	0.0045	0.0047	0.0006662	103	154602	rs367958160	0.0004	0.0004	0.0002	0.0005	0.0040	0.0003	0.0003	0.0036	0.0035	2.987e-05	0	0.0036	0	0	0.0014	3.148e-05	0.0008	0.0040	0.0003	0.0003	0.0002	0.0004	0.0058	0.0002	0.0002	0.0041	0.0036	0	0	0	0.0029	0	0	0	5.88e-05	0	0.0058	.	.	.	0.004	0.74150	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.295	0.90403	M	.	.	.	.	.	.	0.756	0.75466	0.212	0.86106	D	0.547	0.83355	D	9	0.023109585	0.00595	T	0.033471	0.55002	D	.	.	.	.	0.303123707472	0.29912	0.44555854255413524	0.44473	.	.	0.787967562675	0.80133	T	0.43944	0.78472	T	0.0859512	0.62729	D	0.350679	0.90344	D	0.203501668811681	0.20608	T	.	.	.	0.37894207	0.59240	0.21164481	0.45602	0.37894207	0.59240	0.21164481	0.45601	-9.604	0.71504	D	.	.	0.564	0.67373	A	.	.	5.447341	0.91008	32	0.99944881881089009	0.99886	0.98235	0.80793	D	AEFBI	0.844415	0.76137	D	0.871510836441692	0.90297	10.34	0.822440564828272	0.91307	10.822	0.99999999747369	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	7.141000	0.76920	7.405000	0.58601	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	17.577	0.87850	354	0.85282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	933.98	33	chr17	38815020	.	C	T	933.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.613;DP=829;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=0.847;SOR=0.794	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1051	20	0	1	0
chr17	39079120	39079120	T	C	exonic	PLXDC1	.	nonsynonymous SNV	PLXDC1:NM_020405:exon10:c.A1034G:p.Y345C,	.	.	419	1102	0	1	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.988	D	0.89	P	0.004	N	1.000	D	1.67	L	2.3	T	-1.138	T	0.080	T	0.772	0.728	7.868	5.32	2.235	2.869	11.583	0.123	0.0414197814781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.751e-06	0.0003	2.3e-07	9e-08	6.099e-05	2.524e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.35349	T	0.175	0.30534	T	0.988	0.62325	D	0.89	0.63157	P	0.003592	0.34740	N	0.285873	0.868063	0.81001	D	2.32	0.66415	M	2.3	0.76300	T	-2.78	0.58896	D	0.795	0.79118	-1.1377	0.01446	T	0.080	0.31765	T	10	0.33349544	0.50538	T	0.04142	0.59915	D	0.123	0.34020	0.381	0.39807	0.614559674938	0.61144	0.6966192495981544	0.69602	0.921947868155	0.71491	0.427929610014	0.28926	T	0.098186	0.40175	T	0.182915	0.72311	D	0.0249682	0.71951	D	0.95773833990097	0.65087	D	0.959004	0.86259	D	0.11836648	0.27888	0.12772816	0.30742	0.11836648	0.27888	0.12772816	0.30741	-10.959	0.79433	D	.	.	0.268	0.50222	B	.;.;.	.;.;.	4.428353	0.68647	25.3	0.94791488526416079	0.25533	0.85223	0.44337	D	AEFBI	0.417910	0.48576	N	0.421707981337897	0.62617	4.480584	0.40649709873597	0.61970	4.404767	0.999040301331835	0.38290	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	5.32	5.32	0.75377	4.595000	0.60757	6.051000	0.53092	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.240000	0.23001	0.0:0.0:0.0:1.0	11.583	0.50160	565	0.70868	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	759.98	33	chr17	39079120	.	T	C	759.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.707;DP=738;ExcessHet=0.0000;FS=2.534;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.90;ReadPosRankSum=1.09;SOR=0.334	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1175	20	0	1	0
chr17	39139772	39139772	C	T	exonic	PLXDC1	.	nonsynonymous SNV	PLXDC1:NM_020405:exon2:c.G137A:p.R46Q,	.	.	431	1010	74	7	0	88	0.0417457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.059	B	0.005	B	0.233	N	1.000	N	1.445	L	1.73	T	-1.047	T	0.037	T	0.39	2.048	12.80	2.28	0.256	1.236	8.207	0.051	.	0.0038	0.00459265	0.0061	0.0002	0.0029	0	0.0018	0.0058	0.0056	0.0184	0.0058473	904	154602	rs114297422	0.0056	0.0056	0.0051	0.0061	0.0206	0.0055	0.0054	0.0198	0.0195	0.0010	0.0030	0.0033	0.0001	0.0016	0.0167	0.0050	0.0058	0.0206	0.0039	0.0039	0.0035	0.0043	0.0180	0.0036	0.0035	0.0150	0.0138	0.0011	0	0.0031	0.0032	0	0.0009	0.0272	0.0054	0.0061	0.0180	0.055	0.38407	T	0.094	0.39645	T	0.059	0.23051	B	0.005	0.11217	B	0.232671	0.15885	N	0.601257	0.999999	0.58761	D	0.975	0.24501	L	1.73	0.26445	T	-0.69	0.19720	N	0.244	0.27554	-1.0467	0.15332	T	0.037	0.15856	T	10	0.004303634	0.00087	T	.	.	.	0.051	0.14325	.	.	0.165133752707	0.16062	0.6866628743073893	0.68606	0.284527100809	0.30878	0.291070669889	0.09079	T	0.031442	0.22043	T	-0.487807	0.00668	T	-0.459197	0.26686	T	0.00815488066898947	0.00097	T	0.719828	0.33277	T	0.06779414	0.14714	0.061835237	0.12003	0.06779414	0.14713	0.061835237	0.12003	-5.071	0.37600	T	.	.	0.077	0.06387	B	.	.	2.135049	0.27187	17.38	0.98563645269021194	0.43012	0.57490	0.30390	D	AEFDGBI	0.160191	0.28609	N	-0.316103479187463	0.28536	1.574781	-0.211860713090262	0.31109	1.757539	0.998561059899863	0.37206	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.39	2.28	0.27583	0.853000	0.27431	1.690000	0.28065	-0.177000	0.10537	0.885000	0.31090	1.000000	0.68203	0.170000	0.20979	0.0:0.7751:0.0:0.2249	8.207	0.30619	591	0.68823	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1148.98	42	chr17	39139772	.	C	T	1148.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.82;DP=799;ExcessHet=0.0000;FS=1.678;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=-1.019e+00;SOR=0.530	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1110	20	0	1	0
chr17	39408157	39408157	C	T	exonic	MED1	.	nonsynonymous SNV	MED1:NM_004774:exon17:c.G4064A:p.R1355H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	1.0	D	0.994	D	.	.	1.000	D	0.695	N	0.72	T	-0.751	T	0.198	T	0.498	3.895	19.80	4.8	2.644	5.840	18.411	0.288	0.0214729107975	.	.	8.293e-06	0	0	0	0	1.51e-05	0	0	6.5e-06	1	154602	rs771798336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.04	0.50809	D	1.0	0.90584	D	0.994	0.82059	D	.	.	.	.	0.999998	0.81001	D	1.1	0.28011	L	0.72	0.50976	T	-1.22	0.30964	N	0.363	0.40465	-0.7515	0.57857	T	0.198	0.55386	T	9	0.40662366	0.55937	T	0.021473	0.44242	T	0.288	0.60691	0.456	0.52102	0.476941883315	0.47324	0.3368050891573953	0.33593	0.338321825174	0.35807	0.76421546936	0.76558	T	0.22461	0.58909	T	0.00295278	0.52061	T	-0.233535	0.51430	T	0.800860567146188	0.46411	D	0.940639	0.77718	D	0.22247145	0.44847	0.2186069	0.46570	0.22247145	0.44848	0.2186069	0.46569	-3.812	0.20984	T	.	.	0.655	0.71115	P	.	.	5.142451	0.86097	28.8	0.99915191313331964	0.98379	0.96145	0.67738	D	AEFBCI	0.724487	0.67377	D	0.573669516961758	0.71533	5.665624	0.594045334731434	0.74510	6.149592	0.999999999962768	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.8	4.8	0.61157	7.631000	0.82408	7.725000	0.67498	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.411	0.90494	447	0.79583	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1220.98	34	chr17	39408157	.	C	T	1220.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.905;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.36;ReadPosRankSum=-6.800e-01;SOR=0.667	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1124	20	0	1	0
chr17	39408575	39408575	G	T	exonic	MED1	.	nonsynonymous SNV	MED1:NM_004774:exon17:c.C3646A:p.P1216T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.997	D	.	.	1.000	D	0.805	L	-0.17	T	-0.488	T	0.324	T	0.512	3.520	17.98	5.35	2.941	9.166	19.614	0.310	0.015785811764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.128	0.34959	T	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	1	0.81001	D	0.695	0.17993	N	-0.17	0.65563	T	-0.77	0.21429	N	0.352	0.39356	-0.4879	0.69083	T	0.324	0.69289	T	9	0.35291004	0.52109	T	0.015786	0.36715	T	0.310	0.63162	0.472	0.54699	0.490941945927	0.48727	0.4526040378931496	0.45178	0.305758246297	0.32879	0.830530166626	0.86643	D	0.221623	0.58524	T	0.0682493	0.60637	T	-0.139741	0.60141	T	0.730019807815552	0.42211	D	0.885611	0.61095	D	0.2747489	0.50540	0.27475628	0.53406	0.2747489	0.50540	0.27475628	0.53405	-4.408	0.29665	T	.	.	0.370	0.57835	A	.	.	4.595363	0.72728	25.9	0.99669098794119315	0.78458	0.98522	0.83679	D	AEFBCI	0.856228	0.77344	D	0.748358084195801	0.82797	7.852441	0.78594462261523	0.88797	9.719958	0.999999999947797	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.35	5.35	0.76297	9.250000	0.94657	11.915000	0.99681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.614	0.95621	447	0.79583	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3146.98	34	chr17	39408575	.	G	T	3146.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.420e+00;DP=923;ExcessHet=0.0000;FS=4.481;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=0.610;SOR=0.494	GT:AD:DP:GQ:PL	0/1:103,131:234:99:3161,0,2571	20	0	1	0
chr17	39526140	39526140	C	T	exonic	CDK12	.	nonsynonymous SNV	CDK12:NM_015083:exon13:c.C3584T:p.T1195M	.	.	425	1094	3	0	0	3	0.00136924	.	.	137598	not_specified|Hereditary_breast_ovarian_cancer_syndrome|CDK12-related_disorder	MedGen:CN169374|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.004	B	0.004	B	0.032	N	0.950	N	1.245	L	-0.4	T	-0.951	T	0.076	T	0.182	2.521	14.39	3.32	0.730	1.083	8.900	0.080	.	0.0111	0.00599042	0.0027	0.0304	0.0007	0	0	4.503e-05	0.0033	0.0002	0.0025032	387	154602	rs61741615	0.0009	0.0009	0.0010	0.0008	0.0321	0.0009	0.0009	0.0305	0.0299	0.0321	0.0017	0	0	0	0.0017	1.169e-05	0.0021	0.0003	0.0093	0.0093	0.0092	0.0094	0.0321	0.0089	0.0087	0.0306	0.0300	0.0321	0	0.0034	0	0	0	0.0034	0.0001	0.0080	0.0008	0.011	0.55530	D	0.039	0.51112	D	0.004	0.12183	B	0.004	0.10090	B	0.031503	0.25158	N	0.288672	0.95026	0.26510	N	1.59	0.40313	L	-0.45	0.69896	T	-1.09	0.30762	N	0.135	0.13911	-0.9507	0.40851	T	0.076	0.30460	T	10	0.002410978	0.00036	T	.	.	.	0.080	0.23350	.	.	0.41089407703	0.40707	0.23901028071069444	0.23815	0.505556540671	0.48791	0.40447562933	0.25691	T	0.021684	0.34908	T	-0.442727	0.01246	T	-0.385038	0.35133	T	0.0172431242562048	0.00466	T	0.907009	0.68770	D	0.024258202	0.01240	0.049285147	0.07500	0.024150215	0.01218	0.05228501	0.08581	-5.947	0.45833	T	.	.	0.078	0.08320	B	.;.;.	.;.;.	3.010795	0.40265	21.1	0.99075266276139695	0.51834	0.90608	0.51925	D	AEFDGBI	0.201398	0.32806	N	-0.268577963293855	0.30369	1.692684	-0.134033094447453	0.34028	1.952874	0.0372130687170748	0.14285	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.33	3.32	0.37134	0.790000	0.26562	2.471000	0.32897	0.599000	0.40250	0.320000	0.25502	0.986000	0.30841	0.998000	0.85391	0.2644:0.6641:0.0:0.0714	8.900	0.34652	311	0.87433	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3836.11	36	chr17	39526140	.	C	T	3836.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.09;DP=953;ExcessHet=0.1072;FS=3.979;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.75;ReadPosRankSum=-1.086e+00;SOR=0.945	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1234	19	0	2	0
chr17	39670126	39670126	C	T	exonic	PNMT	.	nonsynonymous SNV	PNMT:NM_002686:exon3:c.C586T:p.R196W,	.	.	0	1509	13	0	0	13	0.00428901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.825	P	0.000	D	1.000	D	2.34	M	3.74	T	-1.080	T	0.036	T	0.586	3.493	17.86	-0.465	0.085	-0.192	15.422	0.240	0.0245982482228	0.0002	.	0.0003	9.95e-05	0.0002	0	0	0.0004	0	0.0002	0.0002587	40	154602	rs201626166	0.0002	0.0002	0.0002	0.0002	0.0086	0.0002	0.0002	0.0067	0.0060	0.0003	0.0002	0	0	1.973e-05	0.0086	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.701e-05	0.0001	8.88e-05	9.635e-05	0	0.0003	0	0	0	0.0068	0.0002	0.0005	0.0002	0.009	0.57480	D	0.006	0.70582	D	0.999	0.77913	D	0.825	0.59331	P	0.000000	0.84330	D	0.000000	0.987599	0.41229	D	2.695	0.78878	M	3.74	0.03951	T	-3.61	0.71157	D	0.597	0.61596	-1.0804	0.07272	T	0.036	0.15596	T	10	0.38279054	0.54319	T	0.024598	0.47587	T	0.240	0.54500	.	.	0.305410167561	0.30157	0.6493785559048777	0.64873	0.872890824669	0.69462	0.518337309361	0.41392	T	0.297124	0.66974	T	-0.339574	0.05417	T	-0.411293	0.32075	T	0.159769579768181	0.17855	T	0.921208	0.71446	D	0.8712809	0.88963	0.5913502	0.76287	0.8712809	0.88965	0.5913502	0.76288	-8.827	0.66576	D	.	.	0.126	0.26700	B	.;.	.;.	3.987160	0.58650	24.0	0.99905822048207549	0.97651	0.21658	0.21479	N	AEFDGBI	0.497268	0.53186	N	0.0289064209920725	0.43173	2.615476	-0.125779092843587	0.34354	1.975183	0.912940667594688	0.26409	0.634777	0.41761	0	0.514364	0.08380	0	0.643519	0.47002	0	0.63947	0.58350	0	.	.	4.94	-0.465	0.11549	-0.164000	0.09972	0.307000	0.17042	0.545000	0.25583	0.009000	0.18154	0.975000	0.29991	0.984000	0.60418	0.594:0.406:0.0:0.0	15.422	0.74746	608	0.67185	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	625.98	37	chr17	39670126	.	C	T	625.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.490e-01;DP=799;ExcessHet=0.0000;FS=0.961;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.48;ReadPosRankSum=-9.980e-01;SOR=0.769	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1309	20	0	1	0
chr17	39729601	39729601	A	G	exonic	MIEN1	.	nonsynonymous SNV	MIEN1:NM_032339:exon4:c.T269C:p.I90T,	.	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.157	B	0.053	B	0.000	D	1.000	D	1.98	M	0.98	T	-1.014	T	0.119	T	0.455	4.011	20.6	5.8	2.216	6.099	15.127	0.103	0.0189901238339	.	.	1.647e-05	0	0	0.0001	0	1.498e-05	0	0	1.29e-05	2	154602	rs752142378	8.893e-06	8.893e-06	1.225e-05	5.5e-06	0.0002	4.96e-06	3.82e-06	6.51e-05	4.449e-05	0	2.236e-05	0	0.0002	1.872e-05	0	4.496e-06	0	0	1.972e-05	1.97e-05	1.285e-05	2.692e-05	0.0002	5.24e-06	2.46e-06	8e-06	2.99e-06	4.829e-05	0	0	0	0	0	0	0	0	0.0002	0.107	0.29554	T	0.144	0.33109	T	0.157	0.28234	B	0.053	0.25678	B	0.000359	0.45440	D	0.182118	0.994815	0.81001	D	1.795	0.47270	L	0.98	0.42122	T	-2.65	0.56787	D	0.286	0.32370	-1.0141	0.25625	T	0.119	0.41756	T	10	0.1580129	0.29724	T	0.01899	0.41227	T	0.103	0.29403	0.517	0.61763	0.176862962021	0.17281	.	.	0.636598720207	0.57434	0.57997918129	0.50082	T	0.032896	0.22686	T	-0.223694	0.17492	T	-0.333396	0.41089	T	0.513573918805349	0.33129	D	0.787321	0.42620	T	0.1653943	0.36808	0.18658113	0.41839	0.1653943	0.36808	0.18658113	0.41838	-5.538	0.42222	T	.	.	0.292	0.52318	B	.	.	3.899575	0.56795	23.8	0.99325235581142546	0.59546	0.82830	0.42006	D	AEFDGBHCI	0.785814	0.71608	D	0.155628518477587	0.49077	3.112325	0.310695548390021	0.56168	3.779743	0.999999999999993	0.74766	0.733237	0.96898	0	0.600757	0.49542	0	0.594344	0.31042	0	0.638787	0.57140	0	.	.	5.8	5.8	0.92081	6.185000	0.71948	9.372000	0.80454	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	1.0:0.0:0.0:0.0	15.127	0.72169	582	0.69555	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1342.98	34	chr17	39729601	.	A	G	1342.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.294;DP=797;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=0.249;SOR=0.656	GT:AD:DP:GQ:PL	0/1:57,58:115:99:1357,0,1292	20	0	1	0
chr17	39742588	39742588	C	T	exonic	GRB7	.	nonsynonymous SNV	GRB7:NM_001030002:exon3:c.C178T:p.R60C	.	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.855	P	0.156	N	0.999	N	1.87	L	0.19	T	-0.696	T	0.298	T	0.439	0.376	6.041	4.13	1.135	0.715	13.654	0.169	0.112684722811	.	0.000199681	0.0003	0	8.643e-05	0	0.0002	0.0004	0.0011	0.0001	0.0002329	36	154602	rs61638836	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	0.0053	7.557e-05	0.0001	0.0007	0.0001	0.0004	0.0001	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	9.056e-05	7.018e-05	0	0	0.0002	0.0035	0	9.425e-05	0	0.0002	0	0.0002	0.004	0.72154	D	0.003	0.79402	D	0.995	0.77913	D	0.677	0.60933	P	0.156225	0.17806	N	0.590531	0.999064	0.21661	N	2.435	0.70606	M	0.19	0.60236	T	-4.34	0.78976	D	0.489	0.54234	-0.6964	0.60610	T	0.298	0.66933	T	10	0.011388212	0.00249	T	0.112685	0.79092	D	0.169	0.43123	.	.	0.740631002128	0.73830	0.34236696209850515	0.34149	0.733179984162	0.62827	0.302884399891	0.10832	T	0.412822	0.83449	T	-0.206915	0.19816	T	-0.275317	0.47281	T	0.139545407109847	0.16235	T	0.940906	0.78138	D	0.1760244	0.38494	0.15793046	0.36905	0.1760244	0.38493	0.15793046	0.36904	-7.029	0.54753	T	.	.	0.213	0.44122	B	.;.;.;.;.;.	.;.;.;.;.;.	4.315466	0.66008	24.9	0.72944394408015711	0.10151	0.21934	0.21575	N	AEFBI	0.271607	0.38742	N	-0.0893298339603682	0.37860	2.208797	-0.261567858457869	0.29376	1.645269	0.999984037804085	0.51787	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.63947	0.58350	0	.	.	5.13	4.13	0.47661	0.657000	0.24647	4.078000	0.41716	0.599000	0.40250	0.020000	0.19661	0.999000	0.35428	0.215000	0.22324	0.1563:0.8437:0.0:0.0	13.654	0.61801	590	0.68897	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1164.98	53	chr17	39742588	.	C	T	1164.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=986;ExcessHet=0.0000;FS=1.640;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.01;ReadPosRankSum=-1.943e+00;SOR=0.690	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	20	0	1	0
chr17	39744611	39744611	C	T	exonic	GRB7	.	nonsynonymous SNV	GRB7:NM_001030002:exon8:c.C860T:p.T287M	.	.	.	.	.	.	.	.	.	.	.	727139	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.24	T	1.0	D	0.999	D	0.000	D	0.997	D	1.955	M	-1.05	T	-0.218	T	0.347	T	0.567	3.160	16.57	5.5	2.575	3.674	18.985	0.323	.	0.0065	0.0101837	0.0027	0.0289	0.0023	0	0	4.12e-05	0	0.0002	0.0020504	317	154602	rs79432284	0.0007	0.0007	0.0008	0.0006	0.0232	0.0007	0.0007	0.0218	0.0213	0.0232	0.0017	0	5.058e-05	0	0.0005	9.361e-05	0.0016	5.826e-05	0.0067	0.0067	0.0070	0.0064	0.0227	0.0064	0.0062	0.0215	0.0210	0.0227	0	0.0039	0	0	0	0	0.0001	0.0028	0.0004	0.193	0.28148	T	0.047	0.52727	D	0.998	0.90584	D	0.96	0.92359	D	0.000054	0.53742	D	0.169567	0.997458	0.43901	D	2.045	0.56016	M	-1.05	0.76690	T	0.25	0.04456	N	0.473	0.53620	-0.2181	0.77201	T	0.347	0.71186	T	10	0.008646578	0.00196	T	.	.	.	0.323	0.64522	.	.	0.932822406839	0.93213	0.276350330489679	0.27548	0.662654156328	0.58988	0.55078125	0.45967	T	0.321665	0.69274	T	-0.279198	0.10753	T	-0.156239	0.58688	T	0.0284050449120883	0.01747	T	0.79772	0.45944	T	0.035942208	0.04325	0.0768962	0.17078	0.035942208	0.04325	0.0768962	0.17078	-7.401	0.56912	T	.	.	0.088	0.12276	B	.;.;.;.;.	.;.;.;.;.	4.338359	0.66532	25.0	0.99830153211514017	0.91198	0.90388	0.51524	D	AEFGBHI	0.485236	0.52491	N	0.56537200918401	0.71023	5.588301	0.535529810861277	0.70396	5.499252	0.999997909407312	0.74766	0.67177	0.52595	0	0.610034	0.51514	0	0.702456	0.68683	0	0.550183	0.17644	0	.	.	5.5	5.5	0.81386	3.764000	0.54977	5.975000	0.52067	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.798000	0.37648	0.0:1.0:0.0:0.0	18.985	0.92742	596	0.68392	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|APBB1IP, PH domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|APBB1IP, PH domain;.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|APBB1IP, PH domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1858.98	38	chr17	39744611	.	C	T	1858.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.17;DP=907;ExcessHet=0.0000;FS=4.320;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.10;ReadPosRankSum=1.38;SOR=0.455	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,106,1608	20	0	1	0
chr17	39829479	39829479	G	A	exonic	IKZF3	.	nonsynonymous SNV	IKZF3:NM_001257410:exon3:c.C71T:p.A24V	.	.	426	1085	10	1	0	12	0.00549954	.	.	2811304	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.005	B	0.004	B	0.449	N	1.000	N	0	N	4.38	T	-0.929	T	0.011	T	0.029	-0.037	3.823	-5.48	-0.850	-0.444	5.690	0.017	0.00664395678553	0.0012	0.000199681	0.0008	0.0003	0.0005	0.0003	0.0006	0.0011	0.0011	0.0004	0.0008085	125	154602	rs61749874	0.0009	0.0010	0.0010	0.0009	0.0029	0.0009	0.0009	0.0019	0.0015	0.0003	0.0004	7.659e-05	0.0001	0.0005	0.0029	0.0011	0.0010	0.0003	0.0007	0.0007	0.0008	0.0006	0.0013	0.0006	0.0006	0.0011	0.0010	0.0002	0	0.0003	0	0.0002	0.0003	0	0.0013	0.0009	0.0002	0.332	0.24277	T	0.221	0.56192	T	0.001	0.12996	B	0.001	0.10090	B	0.449490	0.04806	N	1.427950	1	0.08975	N	0	0.06538	N	3.41	0.08986	T	-0.48	0.25551	N	0.052	0.15749	-0.9294	0.44227	T	0.011	0.04227	T	10	0.012108445	0.00261	T	0.006644	0.17529	T	0.017	0.02790	.	.	0.143184338766	0.13958	0.20533718198859963	0.20450	0.605635663499	0.55446	0.24314904213	0.03081	T	.	.	.	-0.730841	0.00024	T	-0.847206	0.00996	T	0.000450568437410543	0.00004	T	0.69513	0.30474	T	0.016803363	0.00223	0.03121239	0.01678	0.016803363	0.00223	0.03121239	0.01677	-3.753	0.22287	T	.	.	0.109	0.41156	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	-0.140840	0.03405	0.616	0.70288833417984531	0.09247	0.00597	0.02669	N	AEFBI	0.049205	0.08476	N	-1.387075287123	0.02758	0.1222555	-1.43514637736797	0.02907	0.1346316	0.159831065858563	0.17575	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.44	-5.48	0.02388	-0.357000	0.07702	0.567000	0.19568	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1444:0.0:0.333:0.5226	5.690	0.17095	662	0.61715	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2559.11	115	chr17	39829479	.	G	A	2559.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.840e-01;DP=896;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=-4.050e-01;SOR=0.714	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1248	19	0	2	0
chr17	40162068	40162068	G	C	exonic	CASC3	.	nonsynonymous SNV	CASC3:NM_007359:exon5:c.G523C:p.D175H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.505	M	.	.	0.079	D	0.529	D	0.865	3.074	16.26	5.9	2.793	9.274	19.047	0.641	0.0807215300264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.795e-06	6.775e-05	5.454e-06	4.131e-06	6.306e-06	1.99e-06	1.28e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.306e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.01	0.65728	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.435	0.70606	M	.	.	.	-5.22	0.83830	D	0.922	0.92550	0.079	0.83794	D	0.529	0.82511	D	9	0.84221935	0.83379	D	0.080722	0.73523	D	0.641	0.86333	0.436	0.48828	0.443461608722	0.43965	0.5624273491863095	0.56169	1.98574131709	0.93678	0.84840118885	0.89372	D	0.482206	0.81045	T	0.395668	0.89663	D	0.330573	0.89533	D	0.977214217185974	0.71738	D	0.979802	0.93081	D	0.63590413	0.74613	0.7816143	0.87128	0.63590413	0.74614	0.7816143	0.87129	-14.987	0.95822	D	.	.	0.999	0.98051	P	.	.	5.267253	0.88442	29.6	0.95566087231948227	0.27250	0.99878	0.99928	D	AEFDBI	0.911652	0.87121	D	0.963292466953755	0.94499	12.80501	0.946896869227198	0.97310	15.91735	0.999999999869152	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	9.404000	0.96648	9.901000	0.82349	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.047	0.93006	204	0.92044	Btz domain|Btz domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.06667	42.81	59	chr17	40162068	.	G	C	42.81	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-2.375e+00;DP=1145;ExcessHet=0.1072;FS=160.626;InbreedingCoeff=-0.1356;MLEAC=2;MLEAF=0.067;MQ=60.00;MQRankSum=0.00;QD=0.28;ReadPosRankSum=1.84;SOR=7.613	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1128	13	0	2	6
chr17	40164128	40164128	C	T	exonic	CASC3	.	nonsynonymous SNV	CASC3:NM_007359:exon7:c.C1433T:p.P478L,	.	.	433	1066	22	1	0	24	0.0111317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.992	D	0.493	P	0.000	D	1.000	D	0	N	.	.	-1.027	T	0.084	T	0.355	1.669	11.54	5.08	2.648	2.499	14.083	0.087	0.0078371103663	0.0005	0.000798722	0.0009	0.0006	0.0018	0	0	0.0009	0.0046	0.0008	0.0008926	138	154602	rs140375987	0.0009	0.0009	0.0008	0.0009	0.0401	0.0009	0.0008	0.0359	0.0342	0.0013	0.0027	0.0011	2.52e-05	5.827e-05	0.0401	0.0006	0.0022	0.0009	0.0009	0.0009	0.0009	0.0010	0.0023	0.0008	0.0008	0.0017	0.0015	0.0007	0	0.0023	0.0009	0	0	0.0340	0.0007	0.0066	0.0006	0.005	0.63226	D	0.049	0.48336	D	0.985	0.61118	D	0.493	0.47443	P	0.000416	0.44736	D	0.235442	0.999998	0.58761	D	1.67	0.42885	L	.	.	.	-0.66	0.19085	N	0.578	0.59986	-1.0268	0.21494	T	0.084	0.32729	T	9	0.019713819	0.00444	T	0.007837	0.20798	T	0.087	0.25287	.	.	0.232442253697	0.22838	0.2393387749667822	0.23847	0.579947014083	0.53851	0.479171782732	0.35943	T	0.03977	0.25301	T	-0.335218	0.05727	T	-0.259532	0.48871	T	0.0274194980544052	0.01605	T	0.925507	0.72634	D	0.11321392	0.26741	0.06890204	0.14448	0.11321392	0.26741	0.06890204	0.14447	-5.211	0.39054	T	.	.	0.098	0.16143	B	.	.	4.526741	0.71028	25.6	0.92941958910010425	0.22511	0.90570	0.51856	D	AEFBI	0.303224	0.41125	N	0.252908875417437	0.53783	3.545777	0.348133233150198	0.58395	4.009777	0.18512621597521	0.17926	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	2.543000	0.45411	5.912000	0.51036	0.599000	0.40250	0.991000	0.37257	0.999000	0.35428	0.976000	0.56436	0.1511:0.8489:0.0:0.0	14.083	0.64465	204	0.92044	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	366.98	37	chr17	40164128	.	C	T	366.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.971;DP=745;ExcessHet=0.0000;FS=3.972;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=-1.735e+00;SOR=0.194	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1321	20	0	1	0
chr17	40291139	40291139	A	G	exonic	CDC6	.	nonsynonymous SNV	CDC6:NM_001254:exon3:c.A260G:p.H87R,	.	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.0	B	0.0	B	0.175	N	1.000	N	0	N	0.92	T	-1.048	T	0.034	T	0.171	-0.840	0.573	-1.5	0.077	0.102	0.826	0.031	0.00339265989156	.	.	2.472e-05	0	0.0003	0	0	0	0	0	1.94e-05	3	154602	rs763169578	5.473e-06	5.472e-06	9.529e-06	1.375e-06	0.0002	2.35e-06	1.7e-06	7.281e-05	5.16e-05	2.987e-05	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.836	0.02840	T	0.564	0.08991	T	0.0	0.02946	B	0.0	0.01387	B	0.174631	0.17274	N	0.587355	0.999997	0.08975	N	-0.85	0.01485	N	0.92	0.44461	T	0.09	0.05917	N	0.01	0.00095	-1.0480	0.14960	T	0.034	0.14596	T	10	0.018920332	0.00416	T	0.003393	0.07603	T	0.031	0.07369	0.159	0.06287	0.393775345888	0.38992	0.11005166258663047	0.10934	0.230498149656	0.25597	0.224944710732	0.01615	T	0.010688	0.09625	T	-0.438516	0.01320	T	-0.598374	0.12948	T	0.0321142954523574	0.02324	T	0.360464	0.10010	T	0.01831639	0.00353	0.020786818	0.00155	0.01831639	0.00353	0.020786818	0.00155	-2.794	0.08128	T	.	.	0.052	0.00543	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.388975	0.02254	0.231	0.17205590292563383	0.00492	0.01959	0.05945	N	AEFGBCIJ	0.024998	0.01638	N	-1.19828746920416	0.05026	0.2281752	-1.12191840804506	0.07283	0.3536424	0.999888274714594	0.44867	0.730579	0.87903	0	0.749866	0.99406	0	0.698795	0.65105	0	0.636	0.56748	0	.	.	5.52	-1.5	0.08233	0.115000	0.15373	0.202000	0.15863	-0.156000	0.11795	0.017000	0.19353	0.000000	0.08366	0.053000	0.15439	0.3401:0.1278:0.3466:0.1855	0.826	0.01050	350	0.85473	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	7669.98	33	chr17	40291139	.	A	G	7669.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.324e+00;DP=1379;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=0.200;SOR=0.708	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr17	40400546	40400546	C	T	exonic	TOP2A	.	nonsynonymous SNV	TOP2A:NM_001067:exon22:c.G2782A:p.V928I,	DNA topoisomerase II, resistance to inhibition of, by amsacrine (3)	.	0	225	1	0	0	1	0.00221729	.	.	2218340	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.002	B	0.009	B	0.000	N	0.862	N	-0.3	N	1.96	T	-0.975	T	0.019	T	0.108	-0.559	1.473	-3.07	-0.802	0.532	14.945	0.133	0.0113989573575	0.0003	0.000199681	0.0002	0.0008	9.619e-05	0	0	0.0001	0	0.0002	0.0001358	21	154602	rs202231304	6.383e-05	6.567e-05	5.46e-05	7.317e-05	0.0011	5.312e-05	4.927e-05	0.0008	0.0007	0.0011	4.579e-05	0	2.521e-05	0	0	3.872e-05	0.0001	4.724e-05	0.0003	0.0003	0.0004	0.0003	0.0011	0.0003	0.0002	0.0008	0.0007	0.0011	0	0.0001	0	0	0	0	7.352e-05	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.009	0.14300	B	0.000004	0.62929	N	0.104194	0.862428	0.28335	N	-0.19	0.04217	N	1.96	0.22270	T	-0.14	0.09135	N	0.155	0.16028	-0.9753	0.36059	T	0.019	0.07753	T	10	0.020258129	0.00464	T	0.011399	0.28987	T	0.133	0.36157	.	.	0.110392049598	0.10638	0.28594751588853756	0.28507	0.111816685233	0.12614	0.289070487022	0.08787	T	0.066946	0.33075	T	-0.587098	0.00175	T	-0.680857	0.06931	T	0.00389976298211592	0.00041	T	0.719228	0.33234	T	0.032806985	0.03377	0.047382593	0.06812	0.032806985	0.03377	0.047382593	0.06811	-6.219	0.48077	T	.	.	0.062	0.01309	B	.	.	0.063285	0.04735	1.365	0.5070557163344408	0.04431	0.21512	0.21428	N	AEFBI	0.082317	0.16667	N	-1.62646297693239	0.01138	0.04944178	-1.47892657587155	0.02517	0.1159242	0.276938493721111	0.18949	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	-3.07	0.05038	0.568000	0.23326	-1.848000	0.04617	-1.704000	0.00753	0.080000	0.22340	0.000000	0.08366	0.970000	0.54328	0.0:0.7148:0.0:0.2852	14.945	0.70675	309	0.87553	DNA topoisomerase, type IIA, subunit A/C-terminal|DNA topoisomerase, type IIA, subunit A/C-terminal|DNA topoisomerase, type IIA, subunit A/C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2195.98	36	chr17	40400546	.	C	T	2195.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.242;DP=980;ExcessHet=0.0000;FS=0.590;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.81;ReadPosRankSum=0.221;SOR=0.783	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,105,1575	20	0	1	0
chr17	40488765	40488765	A	G	exonic	TNS4	.	nonsynonymous SNV	TNS4:NM_032865:exon3:c.T644C:p.L215P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.0	B	0.0	B	0.437	N	1.000	N	-0.695	N	2.17	T	-1.004	T	0.020	T	0.076	-0.860	0.527	-1.35	-0.511	0.425	4.773	0.011	0.00336882342393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.06e-06	2.052e-06	2.733e-06	1.379e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	0	3.326e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.268	0.22494	T	0.0	0.02946	B	0.0	0.01387	B	0.436706	0.04736	N	1.430440	1	0.08975	N	-0.35	0.03145	N	2.17	0.19020	T	1.35	0.00889	N	0.085	0.06190	-1.0042	0.28696	T	0.020	0.08220	T	10	0.034911454	0.01718	T	0.003369	0.07542	T	0.011	0.01250	0.287	0.24601	0.461671691612	0.45793	0.2362660991311221	0.23541	0.242659857926	0.26772	0.261921882629	0.05122	T	0.004079	0.03492	T	-0.375206	0.03339	T	-0.776734	0.02554	T	0.128420203924179	0.15235	T	0.294771	0.05441	T	0.06858626	0.14955	0.07107496	0.15175	0.06858626	0.14955	0.07107496	0.15175	-3.514	0.16628	T	.	.	0.051	0.00165	B	.	.	0.893459	0.12673	9.194	0.31723587526982056	0.01802	0.00900	0.03527	N	AEFDGBCI	0.022167	0.01074	N	-1.42034775592595	0.02460	0.1086681	-1.3989464464439	0.03263	0.1518801	0.99999976078282	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	4.97	-1.35	0.08638	0.061000	0.14242	0.489000	0.18882	-0.576000	0.04747	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.3225:0.0:0.5433:0.1342	4.773	0.12537	267	0.89517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	846.98	44	chr17	40488765	.	A	G	846.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.570e-01;DP=886;ExcessHet=0.0000;FS=3.113;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=-4.100e-01;SOR=1.143	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1077	20	0	1	0
chr17	40751280	40751280	T	G	exonic	KRT25	.	nonsynonymous SNV	KRT25:NM_181534:exon4:c.A716C:p.E239A,	Woolly hair, autosomal recessive 3, Autosomal recessive	.	422	1044	55	1	0	57	0.0265734	.	.	727159	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.994	D	0.856	P	0.000	D	1.000	D	3.5	M	-3.07	D	0.857	D	0.856	D	0.9	4.759	26.7	5.69	2.166	7.670	15.951	0.915	.	0.0024	0.00678914	0.0065	0.0005	0.0022	0	0.0002	0.0039	0.0155	0.0299	0.0058408	903	154602	rs140952603	0.0041	0.0041	0.0032	0.0050	0.0281	0.0040	0.0040	0.0271	0.0268	0.0006	0.0027	0.0212	2.519e-05	0.0002	0.0160	0.0022	0.0067	0.0281	0.0032	0.0032	0.0032	0.0033	0.0259	0.0030	0.0029	0.0222	0.0208	0.0007	0	0.0032	0.0210	0.0002	9.416e-05	0.0136	0.0029	0.0052	0.0259	0.009	0.57480	D	0.01	0.65728	D	0.994	0.66517	D	0.856	0.61001	P	0.000003	0.62929	D	0.000000	0.999986	0.54805	D	3.185	0.88900	M	-3.07	0.92508	D	-4.74	0.80172	D	0.778	0.77507	0.857	0.95118	D	0.856	0.95207	D	10	0.014849842	0.00312	T	.	.	.	0.915	0.97776	.	.	0.907232427097	0.90630	0.5908904248978321	0.59019	0.357179526398	0.37446	0.766265451908	0.76864	T	0.855056	0.96735	D	0.106668	0.65005	D	0.402757	0.92200	D	0.0278956772931231	0.01672	T	0.939106	0.77081	D	0.72704566	0.79557	0.685939	0.81532	0.71058583	0.78641	0.685939	0.81533	-9.103	0.68356	D	0.4875176608797725	0.56501	0.343	0.56131	A	.	.	5.055516	0.84232	28.3	0.99725033447456402	0.82336	0.99646	0.98304	D	AEFDBI	0.906088	0.85842	D	0.894473073577859	0.91486	10.90823	0.836516895162688	0.92204	11.29381	0.99995466475536	0.48110	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.69	5.69	0.88346	7.601000	0.82027	7.848000	0.70832	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:0.0:1.0	15.951	0.79619	60	0.97424	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2116.98	37	chr17	40751280	.	T	G	2116.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.067;DP=932;ExcessHet=0.0000;FS=0.535;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.64;ReadPosRankSum=-1.109e+00;SOR=0.748	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1272	20	0	1	0
chr17	40779575	40779575	G	A	exonic	KRT27	.	nonsynonymous SNV	KRT27:NM_181537:exon5:c.C899T:p.A300V,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.883	P	0.566	P	0.000	D	0.610	N	1.91	M	-2.48	D	0.528	D	0.682	D	0.59	4.461	23.8	5.52	2.754	-0.645	14.027	0.461	0.14225005127	.	.	2.473e-05	0	0	0	0	1.5e-05	0.0011	6.058e-05	1.94e-05	3	154602	rs772002793	1.642e-05	1.642e-05	1.225e-05	2.063e-05	0.0002	1.111e-05	9.33e-06	1.093e-05	8.81e-06	0	0	0	5.038e-05	0	0.0002	1.709e-05	1.656e-05	1.159e-05	1.969e-05	1.968e-05	1.284e-05	2.685e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.375e-05	0	0	0	0	0.0006	0	0	0	0	0	0.009	0.57480	D	0.087	0.40747	T	0.883	0.48537	P	0.566	0.49756	P	0.000015	0.62929	D	0.000000	0.610194	0.30867	N	2.39	0.68882	M	-2.48	0.89071	D	-2.68	0.57275	D	0.109	0.09490	0.528	0.90935	D	0.682	0.89000	D	10	0.2694285	0.44469	T	0.14225	0.82464	D	0.461	0.75822	.	.	0.62465077226	0.62159	0.4731274374558862	0.47231	0.625028188271	0.56690	0.463449835777	0.33783	T	0.442073	0.78637	T	-0.0361819	0.46514	T	-0.120621	0.61751	T	0.861661314964294	0.51203	D	0.937406	0.76468	D	0.4473892	0.63876	0.54527634	0.73715	0.4473892	0.63877	0.54527634	0.73716	-7.402	0.56919	T	.	.	0.183	0.39630	B	.	.	3.825224	0.55259	23.6	0.99923230658057349	0.98917	0.33339	0.24804	N	ALL	0.151501	0.27600	N	0.103775436966709	0.46639	2.90116	0.0444480222828003	0.41804	2.517681	0.999999899400488	0.74766	0.59774	0.34471	0	0.475579	0.06741	0	0.607795	0.38427	0	0.63947	0.58350	0	.	.	5.52	5.52	0.82153	-0.198000	0.09506	5.071000	0.47178	0.618000	0.50648	0.000000	0.06391	1.000000	0.68203	0.679000	0.33513	0.0:0.1514:0.8486:0.0	14.027	0.64111	65	0.97253	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1653.98	38	chr17	40779575	.	G	A	1653.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=1065;ExcessHet=0.0000;FS=1.545;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.64;ReadPosRankSum=0.129;SOR=0.520	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr17	40779628	40779628	C	T	splicing	KRT27	NM_181537:exon5:c.847-1G>A	.	.	.	.	427	1086	9	0	0	9	0.00412655	1.0000	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.209	21.8	5.52	2.754	2.936	18.777	.	.	.	0.0151757	0.0077	9.696e-05	0.0003	0.0001	0	4.52e-05	0.0011	0.0561	0.0068175	1054	154602	rs187944199	0.0034	0.0034	0.0019	0.0049	0.0543	0.0033	0.0033	0.0530	0.0525	5.974e-05	8.946e-05	0	0	0	0.0028	2.338e-05	0.0039	0.0543	0.0018	0.0018	0.0009	0.0027	0.0541	0.0016	0.0015	0.0488	0.0467	0.0001	0	0	0	0.0006	0	0	1.47e-05	0	0.0541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0383149	0.56825	T	0.323996	0.89257	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.220290	0.94819	34	0.99456976980457279	0.65581	0.87659	0.47272	D	AEFDGBHCI	.	.	.	1.04428177177827	0.96953	15.37492	0.892118857653241	0.95220	13.41913	0.999999999682332	0.74766	0.095506	0.02484	0	0.078755	0.01978	0	0.134018	0.03721	0	0.109499	0.03221	0	0.985857	0.93731	5.52	5.52	0.82153	6.938000	0.75715	7.597000	0.61435	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.599000	0.31363	0.0:1.0:0.0:0.0	18.777	0.91881	65	0.97253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1818.98	38	chr17	40779628	.	C	T	1818.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.711;DP=1029;ExcessHet=0.0000;FS=2.864;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.40;ReadPosRankSum=-7.380e-01;SOR=0.844	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1485	20	0	1	0
chr17	40781223	40781225	ATC	-	exonic	KRT27	.	nonframeshift deletion	KRT27:NM_181537:exon2:c.490_492del:p.D164del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1274.94	65	chr17	40781222	.	TATC	T	1274.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.670e-01;DP=745;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.61;ReadPosRankSum=-2.153e+00;SOR=0.634	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1069	20	0	1	0
chr17	40818881	40818881	-	GCTGCCGCCGCCGGA	exonic	KRT10	.	nonframeshift insertion	KRT10:NM_000421:exon7:c.1653_1654insTCCGGCGGCGGCAGC:p.S552_S553insGGGSS	Epidermolytic hyperkeratosis, Autosomal recessive, Autosomal dominant;Ichthyosis with confetti, Autosomal dominant;Ichthyosis, cyclic, with epidermolytic hyperkeratosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	797527	not_provided|KRT10-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.0003	0.0003	0	0.0036	0.0020	0.0016	0.0002	0.0003842	10	26028	rs752563839	0.0030	0.0033	0.0031	0.0030	0.0056	0.0030	0.0029	0.0041	0.0035	0.0002	0.0008	0.0068	2.902e-05	0.0108	0.0056	0.0031	0.0028	0.0003	0.0033	0.0035	0.0030	0.0035	0.0044	0.0030	0.0029	0.0040	0.0039	0.0004	0	0.0009	0.0088	0.0004	0.0114	0	0.0044	0.0044	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	777.94	35	chr17	40818881	.	T	TGCTGCCGCCGCCGGA	777.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.856;DP=1142;ExcessHet=0.0000;FS=2.519;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.97;ReadPosRankSum=-3.220e-01;SOR=1.127	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1312	20	0	1	0
chr17	40864885	40864885	G	A	exonic	KRT12	.	nonsynonymous SNV	KRT12:NM_000223:exon3:c.C728T:p.T243I,	Meesmann corneal dystrophy, Autosomal dominant	.	0	1512	10	0	0	10	0.00329598	.	.	727160	KRT12-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.997	D	0.000	D	1.000	D	3.05	M	-1.04	T	0.530	D	0.717	D	0.874	4.708	26.1	5.96	2.832	4.590	20.422	0.670	0.0791385706541	0.0009	0.000199681	0.0013	0.0004	0.0008	0	0	0.0018	0.0011	0.0015	0.0013066	202	154602	rs61735165	0.0017	0.0017	0.0017	0.0017	0.0014	0.0016	0.0016	0.0014	0.0013	0.0003	0.0013	0.0213	0	1.872e-05	0.0009	0.0014	0.0028	0.0012	0.0014	0.0014	0.0014	0.0013	0.0018	0.0012	0.0011	0.0013	0.0011	0.0003	0.0011	0.0018	0.0199	0	0	0	0.0013	0.0009	0.0008	0.023	0.48186	D	0.017	0.60337	D	1.0	0.90584	D	0.997	0.86255	D	0.000097	0.51296	D	0.000000	0.999968	0.52935	D	3.18	0.88827	M	-1.04	0.76561	T	-5.12	0.83157	D	0.876	0.87373	0.530	0.90958	D	0.717	0.90272	D	10	0.014879942	0.00312	T	0.079139	0.73166	D	0.670	0.87771	.	.	0.961899691326	0.96149	0.9316431463365482	0.93143	0.692070688562	0.60640	0.498951762915	0.38682	T	0.865226	0.97042	D	0.00646232	0.52542	T	0.234085	0.84865	D	0.0878480784609267	0.10961	T	0.874313	0.58483	D	0.6470878	0.75209	0.60233337	0.76892	0.67569286	0.76739	0.5764901	0.75463	-10.712	0.78055	D	0.4475528240100881	0.53194	0.608	0.69226	P	.;.	.;.	3.875937	0.56301	23.7	0.99909954643115928	0.97949	0.96900	0.71553	D	AEFDBI	0.780026	0.71205	D	0.884337940314088	0.90972	10.65322	0.838274403189764	0.92312	11.35497	0.999999875032235	0.74766	0.57788	0.32782	0	0.59043	0.45803	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	6.773000	0.74802	8.516000	0.77406	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.696000	0.34018	0.0:0.0:1.0:0.0	20.422	0.99051	99	0.95913	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1902.98	36	chr17	40864885	.	G	A	1902.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.550e-01;DP=954;ExcessHet=0.0000;FS=2.830;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-1.556e+00;SOR=0.940	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1206	20	0	1	0
chr17	40936332	40936332	C	T	exonic	KRT23	.	nonsynonymous SNV	KRT23:NM_015515:exon2:c.G272A:p.R91H,	.	.	42	1475	5	0	0	5	0.00169205	.	.	2377340	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.385	B	0.071	B	0.001	N	1.000	D	2.38	M	-2.92	D	0.128	D	0.674	D	0.245	2.943	15.81	2.68	0.358	2.189	8.797	0.406	0.0378184212957	0.0005	0.000199681	0.0005	0.0002	0.0002	0	0	0.0007	0	0.0002	0.0004722	73	154602	rs148131200	0.0004	0.0004	0.0004	0.0004	0.0028	0.0004	0.0004	0.0017	0.0014	0.0001	0.0005	0.0001	2.519e-05	3.744e-05	0.0028	0.0005	0.0004	0.0002	0.0003	0.0003	0.0004	0.0002	0.0006	0.0003	0.0002	0.0004	0.0004	0.0001	0	0.0001	0	0	0	0	0.0006	0.0005	0.0002	0.026	0.46910	D	0.056	0.46632	T	0.385	0.34473	B	0.071	0.27960	B	0.001104	0.40219	N	0.111526	0.999956	0.81001	D	1.885	0.50048	L	-2.92	0.91748	D	-4.01	0.74193	D	0.285	0.32259	0.128	0.84667	D	0.674	0.88699	D	10	0.13732234	0.26123	T	0.037818	0.57848	D	0.406	0.71869	.	.	0.751335196791	0.74908	0.700644812163503	0.70005	0.232336152672	0.25778	0.307789266109	0.11573	T	0.61497	0.89591	D	-0.244102	0.14829	T	-0.205196	0.54155	T	0.0233774756117635	0.01068	T	0.913609	0.69252	D	0.16692784	0.37059	0.1404538	0.33479	0.16692784	0.37059	0.1404538	0.33478	-3.699	0.19304	T	.	.	0.086	0.10449	B	.;.	.;.	2.227487	0.28431	17.79	0.99543074193736825	0.70648	0.91371	0.53399	D	AEFDBI	0.323279	0.42552	N	-0.13733700258467	0.35775	2.059221	-0.1273427995878	0.34292	1.97094	0.999698770295718	0.41870	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.73	2.68	0.30839	2.238000	0.42719	-1.462000	0.05385	0.599000	0.40250	0.960000	0.33603	0.000000	0.08366	0.998000	0.85391	0.0:0.6495:0.0:0.3505	8.797	0.34044	145	0.94217	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1760.98	33	chr17	40936332	.	C	T	1760.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=833;ExcessHet=0.0000;FS=4.305;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.98;ReadPosRankSum=2.37;SOR=1.098	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1161	20	0	1	0
chr17	40993808	40993808	C	T	exonic	KRTAP3-3	.	nonsynonymous SNV	KRTAP3-3:NM_033185:exon1:c.G290A:p.G97D,	.	.	420	1081	21	0	0	21	0.00961979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.085	B	0.057	B	0.252	N	0.993	N	.	.	1.87	T	-1.039	T	0.053	T	0.214	-0.595	1.336	4.8	1.383	0.470	9.510	0.041	0.00280950989534	7.7e-05	0.000199681	0.0006	9.632e-05	0.0009	0	0	0.0004	0	0.0024	0.0005433	84	154602	rs368702159	0.0004	0.0004	0.0003	0.0005	0.0040	0.0004	0.0004	0.0027	0.0023	5.974e-05	0.0005	0.0008	0	0	0.0040	0.0002	0.0009	0.0024	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	7.215e-05	0	0.0003	0.0012	0	0	0	0.0004	0.0019	0.0002	0.747	0.03620	T	0.152	0.32249	T	0.085	0.24868	B	0.057	0.26280	B	0.252389	0.15482	N	0.630917	0.992893	0.23807	N	.	.	.	1.87	0.24085	T	-0.82	0.22508	N	0.183	0.19861	-1.0386	0.17740	T	0.053	0.22307	T	9	0.013206512	0.00281	T	0.00281	0.05869	T	0.041	0.10877	.	.	0.314716216878	0.31082	0.09344851848870168	0.09276	0.34989876258	0.36836	0.30668258667	0.11406	T	0.005354	0.04800	T	-0.571177	0.00218	T	-0.599709	0.12835	T	0.0120510934403371	0.00191	T	.	.	.	0.048656538	0.08516	0.07998882	0.18057	0.048656538	0.08515	0.07998882	0.18056	-4.65	0.32794	T	.	.	0.085	0.10111	B	.	.	0.861408	0.12337	8.878	0.17646016997763231	0.00523	0.18353	0.20225	N	AEFGBI	0.072297	0.14424	N	-0.353712650571673	0.27136	1.48641	-0.290783467502863	0.28401	1.583308	0.00111137648523761	0.08239	0.525926	0.21836	0	0.563428	0.19063	0	0.615948	0.41167	0	0.530356	0.10902	0	.	.	5.79	4.8	0.61157	0.468000	0.21763	0.043000	0.13895	0.581000	0.30040	0.353000	0.25784	0.000000	0.08366	0.060000	0.15972	0.0:0.8968:0.0:0.1032	9.510	0.38234	213	0.91726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1737.98	34	chr17	40993808	.	C	T	1737.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.800e-01;DP=887;ExcessHet=0.0000;FS=1.305;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.07;MQRankSum=-7.950e-01;QD=11.43;ReadPosRankSum=1.25;SOR=0.817	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr17	41026912	41026912	G	A	exonic	KRTAP1-5	.	stopgain	KRTAP1-5:NM_031957:exon1:c.C244T:p.Q82X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.639	18.51	2.12	0.442	0.440	7.727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.075	0.04913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.497318	0.94214	D	0.476586	0.94137	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.943239	0.94137	33	0.99326971630600591	0.59622	0.25020	0.22572	N	AEFDBCIJ	0.071181	0.14161	N	0.443940189308683	0.63861	4.628086	0.176331101384099	0.48553	3.069706	0.999198222824983	0.38711	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.31	2.12	0.26372	0.371000	0.20182	0.021000	0.13590	0.592000	0.32167	0.004000	0.16614	0.000000	0.08366	0.807000	0.38039	0.0:0.3527:0.4791:0.1682	7.727	0.27930	432	0.80690	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1506.98	34	chr17	41026912	.	G	A	1506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.510e-01;DP=822;ExcessHet=0.0000;FS=0.701;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.10;ReadPosRankSum=-2.320e-01;SOR=0.768	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1267	20	0	1	0
chr17	41041286	41041286	G	0	exonic	KRTAP1-1	.	.	.	.	.	423	643	441	0	15	456	0.255356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	3885.87	242	chr17	41041286	.	G	T,*	3885.87	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=2.73;DP=3812;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3548;MLEAC=10,1;MLEAF=0.238,0.024;MQ=59.30;MQRankSum=-1.165e+01;QD=1.29;ReadPosRankSum=4.68;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:281,26,0:307:99:0|1:41041286_G_T:246,0,11140,1092,11218,12310:41041286	10	0	10	0
chr17	41041297	41041297	G	0	exonic	KRTAP1-1	.	.	.	.	.	0	91	122	0	13	135	0.401316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2306.36	255	chr17	41041297	.	G	*,C	2306.36	.	AC=1,9;AF=0.025,0.225;AN=40;BaseQRankSum=2.19;DP=3862;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3496;MLEAC=1,10;MLEAF=0.025,0.250;MQ=59.29;MQRankSum=-1.141e+01;QD=0.84;ReadPosRankSum=4.87;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:279,0,46:325:99:0|1:41041286_G_T:287,1127,12405,0,11278,11175:41041286	10	0	1	1
chr17	41041341	41041341	G	0	exonic	KRTAP1-1;KRTAP9-7	.	.	.	.	.	423	805	280	0	14	294	0.148148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	2496.32	253	chr17	41041341	.	G	T,*	2496.32	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=0.535;DP=3198;ExcessHet=3.5521;FS=0.766;InbreedingCoeff=-0.2364;MLEAC=7,1;MLEAF=0.167,0.024;MQ=59.31;MQRankSum=-1.146e+01;QD=1.14;ReadPosRankSum=-1.843e+00;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:275,26,0:301:99:.:.:145,0,10824,971,10902,11873	13	0	7	0
chr17	41041366	41041366	A	0	exonic	KRTAP1-1	.	.	.	.	.	420	996	92	0	14	106	0.0441459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	1230.28	61	chr17	41041366	.	A	T,*	1230.28	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=-9.070e-01;DP=2214;ExcessHet=1.1607;FS=0.710;InbreedingCoeff=-0.1351;MLEAC=4,1;MLEAF=0.095,0.024;MQ=59.30;MQRankSum=-1.005e+01;QD=1.00;ReadPosRankSum=-4.637e+00;SOR=0.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0,0:40:99:.:.:0,99,1485,99,1485,1485	16	0	4	0
chr17	41041386	41041386	A	0	exonic	KRTAP1-1	.	.	.	.	.	419	1075	14	0	14	28	0.0064695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	92.06	61	chr17	41041386	.	A	*,G	92.06	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=2.36;DP=1369;ExcessHet=0.1072;FS=2.627;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=59.14;MQRankSum=-2.961e+00;QD=0.21;ReadPosRankSum=-3.285e+00;SOR=0.505	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0,0:40:99:.:.:0,99,1485,99,1485,1485	19	0	1	0
chr17	41046948	41046948	G	A	exonic	KRTAP2-1	.	nonsynonymous SNV	KRTAP2-1:NM_001123387:exon1:c.C320T:p.P107L,	.	.	408	1109	5	0	0	5	0.00224921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.997	D	0.953	D	0.215	U	1.000	D	1.645	L	.	.	-0.758	T	0.301	T	0.484	2.368	13.88	5.9	2.784	2.682	15.756	0.215	.	.	.	0.0014	0	0	0.0324	0	0.0006	0	0.0010	0.000194	30	154602	rs758057297	0.0026	0.0029	0.0026	0.0026	0.0250	0.0025	0.0025	0.0237	0.0231	0.0003	0.0005	0	0.0250	0.0012	0	0.0019	0.0059	0.0028	0.0014	0.0025	0.0014	0.0014	0.0155	0.0013	0.0012	0.0127	0.0117	0.0004	0	0.0009	0	0.0155	0.0013	0	0.0011	0.0028	0.0023	0.069	0.35537	T	0.443	0.13215	T	0.997	0.70673	D	0.953	0.69275	D	0.215353	0.16266	U	0.452247	0.999903	0.81001	D	2.255	0.64187	M	.	.	.	-2.52	0.54702	D	0.311	0.35088	-0.7577	0.57530	T	0.301	0.67214	T	9	0.008191884	0.00186	T	.	.	.	0.215	0.50805	.	.	0.298056030225	0.29408	0.07788339365551367	0.07724	.	.	0.613914132118	0.54869	T	0.004898	0.04322	T	-0.334133	0.05805	T	-0.239762	0.50821	T	0.023191829902124	0.01046	T	.	.	.	0.096621044	0.22762	0.12726402	0.30638	0.096621044	0.22761	0.12726402	0.30637	-4.365	0.29078	T	.	.	0.349	0.56520	A	.	.	3.469303	0.48388	22.6	0.99274413625361901	0.57661	0.61219	0.31421	D	AEFBI	0.315668	0.42018	N	0.547804919559583	0.69948	5.430258	0.578112884502094	0.73372	5.959914	0.578160121215075	0.21548	0.525926	0.21836	0	0.563428	0.19063	0	0.615948	0.41167	0	0.530356	0.10902	0	.	.	5.9	5.9	0.94952	1.800000	0.38469	4.506000	0.43629	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	15.756	0.77798	420	0.81451	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	354.98	35	chr17	41046948	.	G	A	354.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.649;DP=842;ExcessHet=0.0000;FS=1.094;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.65;MQRankSum=0.090;QD=4.13;ReadPosRankSum=-3.400e-01;SOR=0.491	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1228	20	0	1	0
chr17	41047198	41047198	A	G	exonic	KRTAP2-1	.	nonsynonymous SNV	KRTAP2-1:NM_001123387:exon1:c.T70C:p.C24R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.19	B	0.206	B	0.000	U	1.000	D	2.675	M	1.07	T	-0.795	T	0.173	T	0.367	3.835	19.47	5.9	2.246	2.439	12.700	0.242	0.0124865222642	.	.	0	0	0	0	0	0	0	0	.	.	.	rs754412288	0.0001	0.0001	5.204e-05	0.0002	0.0020	9.264e-05	8.682e-05	0.0017	0.0016	0	0	0	0	0	0	6.894e-06	3.752e-05	0.0020	3.966e-05	4.595e-05	0	8.121e-05	0.0011	1.724e-05	1.135e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.475e-05	0	0.0011	0.0	0.91255	D	0.0	0.92824	D	0.19	0.29379	B	0.206	0.37138	B	0.000447	0.44317	U	0.000000	0.999985	0.54805	D	3.75	0.95014	H	1.07	0.39586	T	-10.47	0.99043	D	0.391	0.43223	-0.7950	0.55438	T	0.173	0.51642	T	10	0.19661781	0.35561	T	0.012487	0.31109	T	0.242	0.54781	0.647	0.78436	0.577997890147	0.57469	0.16909318261358425	0.16829	.	.	0.597443699837	0.52544	T	0.046117	0.27328	T	-0.0460625	0.45043	T	-0.303942	0.44307	T	0.961654543876648	0.66143	D	.	.	.	0.9745894	0.98671	0.94515234	0.98100	0.9745894	0.98671	0.94515234	0.98100	-5.422	0.41130	T	.	.	0.400	0.60389	A	.;.	.;.	3.813732	0.55029	23.6	0.99557631902613086	0.71583	0.86678	0.46010	D	AEFBI	0.416652	0.48501	N	0.216252578197925	0.51986	3.375857	0.313509428768241	0.56331	3.796478	0.185075554945308	0.17925	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.9	5.9	0.94952	1.837000	0.38841	4.533000	0.43733	0.542000	0.25261	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	1.0:0.0:0.0:0.0	12.700	0.56395	420	0.81451	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	198.46	9	chr17	41047198	.	A	G	198.46	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.465e+00;DP=132;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0212;MLEAC=1;MLEAF=0.024;MQ=38.84;MQRankSum=1.47;QD=28.35;ReadPosRankSum=1.47;SOR=0.527	GT:AD:DP:GQ:PL	0/0:7,0:7:21:0,21,265	20	0	1	0
chr17	41065513	41065513	G	0	exonic	KRTAP2-4	.	.	.	.	.	421	1053	32	2	14	50	0.0168067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	899.24	34	chr17	41065513	.	G	A,*	899.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=2.70;DP=910;ExcessHet=0.6776;FS=0.479;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=56.55;MQRankSum=-4.000e-01;QD=3.41;ReadPosRankSum=0.826;SOR=0.639	GT:AD:DP:GQ:PL	0/0:35,0,0:35:99:0,99,1263,99,1263,1263	17	0	1	0
chr17	41117935	41118039	AGACTGGCAGCACTGGGGTCTGCAGCAGCTGGACACACAGCAGCTGGGGCGACAGCAGCTGGAGATGCAGCATCTGGGGCGGCAGCAAGTGGGCTGGCAGCACAT	-	exonic	KRTAP4-11	.	nonframeshift deletion	KRTAP4-11:NM_033059:exon1:c.277_381del:p.M93_S127del,	.	.	389	1123	10	0	0	10	0.00443262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0029	0.0082	0.0035	0.0072	0.0006	0.0022	0.0036	0.0014	.	.	.	.	0.0011	0.0035	0.0010	0.0011	0.0055	0.0010	0.0010	0.0049	0.0047	0.0049	0.0037	0.0012	0.0055	0.0018	0.0013	0.0006	0.0018	0.0016	0.0043	0.0060	0.0041	0.0046	0.0099	0.0041	0.0039	0.0091	0.0088	0.0099	0.0011	0.0063	0.0017	0.0091	0.0024	0.0035	0.0010	0.0039	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	78.94	108	chr17	41117934	.	CAGACTGGCAGCACTGGGGTCTGCAGCAGCTGGACACACAGCAGCTGGGGCGACAGCAGCTGGAGATGCAGCATCTGGGGCGGCAGCAAGTGGGCTGGCAGCACAT	C	78.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.190e-01;DP=2693;ExcessHet=0.0000;FS=15.332;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.49;MQRankSum=-8.908e+00;QD=0.43;ReadPosRankSum=-6.573e+00;SOR=1.820	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:146,0:146:99:.:.:0,120,1800	20	0	1	0
chr17	41117942	41117942	C	T	exonic	KRTAP4-11	.	nonsynonymous SNV	KRTAP4-11:NM_033059:exon1:c.G374A:p.C125Y,	.	.	387	1087	36	2	10	50	0.0180668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.004	U	0.740	N	3.915	H	3.57	T	-0.848	T	0.079	T	0.461	2.783	15.27	3.22	1.324	0.317	11.882	0.084	.	.	0.00339457	0.0031	0.0005	0.0028	0.0001	0	0.0019	0.0050	0.0115	0.0023997	371	154602	rs201517671	0.0021	0.0021	0.0018	0.0025	0.0224	0.0021	0.0020	0.0192	0.0180	0.0005	0.0019	0.0041	2.657e-05	9.952e-05	0.0224	0.0014	0.0031	0.0131	0.0017	0.0017	0.0014	0.0019	0.0113	0.0015	0.0014	0.0089	0.0081	0.0004	0	0.0027	0.0029	0.0002	0	0.0103	0.0018	0.0024	0.0113	0.007	0.59928	D	0.016	0.60972	D	1.0	0.90584	D	0.998	0.88582	D	0.003702	0.34585	U	0.000000	0.739949	0.29745	N	3.78	0.95251	H	3.57	0.04645	T	-8.26	0.96915	D	0.144	0.14480	-0.8478	0.52120	T	0.079	0.31375	T	10	0.0043307543	0.00088	T	.	.	.	0.084	0.24469	.	.	0.497280371566	0.49363	0.15703317164027314	0.15624	0.00790037239625	0.00715	0.278572291136	0.07294	T	0.069471	0.33718	T	-0.483592	0.00705	T	-0.459461	0.26657	T	0.150048717089655	0.17108	T	0.462854	0.13445	T	0.4794338	0.65866	0.33817667	0.59598	0.4794338	0.65866	0.33817667	0.59598	-7.727	0.59195	D	.	.	0.205	0.43130	B	.	.	1.665534	0.21236	15.11	0.79300385026463116	0.12679	0.15644	0.19012	N	AEFBI	0.104543	0.20914	N	0.188050669921843	0.50624	3.250729	-0.103313115415274	0.35257	2.037601	0.883224234455235	0.25669	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.22	3.22	0.36041	-0.441000	0.06951	-0.327000	0.09919	-0.268000	0.06776	0.000000	0.06391	0.000000	0.08366	0.692000	0.33898	0.0:1.0:0.0:0.0	11.882	0.51859	269	0.89438	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025	931.99	108	chr17	41117942	.	C	T	931.99	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.509e+00;DP=2629;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=57.88;MQRankSum=-3.265e+00;QD=10.84;ReadPosRankSum=-3.476e+00;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:150,0:150:0:.:.:0,0,3618	19	0	1	1
chr17	41140108	41140108	-	GCCTGCAGC	exonic	KRTAP4-6	.	nonframeshift insertion	KRTAP4-6:NM_030976:exon1:c.379_380insGCTGCAGGC:p.S127delinsCCRP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	1730.29	157	chr17	41140108	.	G	GGCCTGCAGC	1730.29	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.25;DP=4466;ExcessHet=0.0000;FS=28.663;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=58.37;MQRankSum=-7.622e+00;QD=9.20;ReadPosRankSum=1.34;SOR=2.045	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:236,0:236:99:.:.:0,120,1800	19	0	1	1
chr17	41140110	41140110	-	CTGGACACACAGCAGCTGGGGCGACAGCAGCTGGAGATGCAGCAGCTGGGGCGGCAGCAGGTGGGCTGGCAGCACACAGACTGGCAGCACTGGGGT	exonic	KRTAP4-6	.	nonframeshift insertion	KRTAP4-6:NM_030976:exon1:c.377_378insACCCCAGTGCTGCCAGTCTGTGTGCTGCCAGCCCACCTGCTGCCGCCCCAGCTGCTGCATCTCCAGCTGCTGTCGCCCCAGCTGCTGTGTGTCCAG:p.R126_S127insPQCCQSVCCQPTCCRPSCCISSCCRPSCCVSR,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	1812.29	122	chr17	41140110	.	C	CCTGGACACACAGCAGCTGGGGCGACAGCAGCTGGAGATGCAGCAGCTGGGGCGGCAGCAGGTGGGCTGGCAGCACACAGACTGGCAGCACTGGGGT	1812.29	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.364;DP=3823;ExcessHet=0.0000;FS=28.249;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=58.40;MQRankSum=-7.537e+00;QD=9.44;ReadPosRankSum=-9.020e-01;SOR=1.972	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:211,0:211:99:.:.:0,120,1800	19	0	1	1
chr17	41167871	41167871	C	T	exonic	KRTAP4-3	.	nonsynonymous SNV	KRTAP4-3:NM_033187:exon1:c.G302A:p.R101H,	.	.	448	1012	56	6	0	68	0.0325048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.518	P	0.076	B	0.012	U	1.000	N	2.615	M	4.87	T	-0.971	T	0.006	T	0.393	1.992	12.62	1.33	0.088	0.240	5.927	0.108	.	0.0071	0.00698882	0.0079	0.0018	0.0033	0.0004	0.0024	0.0084	0.0076	0.0179	0.0064423	996	154602	rs143200002	0.0038	0.0037	0.0033	0.0042	0.0251	0.0037	0.0036	0.0215	0.0201	0.0012	0.0020	0.0021	7.623e-05	0.0021	0.0251	0.0033	0.0047	0.0129	0.0065	0.0065	0.0066	0.0063	0.0189	0.0061	0.0060	0.0157	0.0146	0.0018	0.0022	0.0053	0.0029	0.0004	0.0016	0.0310	0.0098	0.0114	0.0189	0.061	0.37118	T	0.039	0.51112	D	0.518	0.37483	P	0.076	0.28435	B	0.011693	0.29437	U	0.000000	1	0.08975	N	3.58	0.93551	H	4.87	0.01449	T	-3.2	0.64710	D	0.06	0.03175	-0.9705	0.37094	T	0.006	0.01907	T	10	0.0060154498	0.00135	T	.	.	.	0.108	0.30607	.	.	0.27479166964	0.27093	0.05665735460135568	0.05606	0.0258765225282	0.02640	0.1833358109	0.00128	T	0.034654	0.23405	T	-0.48063	0.00733	T	-0.458182	0.26797	T	0.0535494363800892	0.06113	T	0.114489	0.00870	T	0.08230956	0.18956	0.1222704	0.29494	0.08230956	0.18956	0.1222704	0.29493	-8.921	0.67187	D	.	.	0.218	0.44758	B	.	.	1.382789	0.17947	13.46	0.92627092135174738	0.22097	0.03687	0.08959	N	AEFDBI	0.038029	0.05321	N	-0.509054315330663	0.21786	1.158767	-0.647242879890709	0.18287	0.9762053	1.44131263787327E-5	0.02871	0.446893	0.09132	0	0.563428	0.19063	0	0.48864	0.07692	0	0.613276	0.41899	0	.	.	4.55	1.33	0.20958	-2.123000	0.01406	.	.	0.575000	0.29119	0.000000	0.06391	.	.	0.913000	0.44837	0.1513:0.674:0.0:0.1747	5.927	0.18355	266	0.89551	.	.	.	KRT31	Brain_Cerebellar_Hemisphere	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2843.11	39	chr17	41167871	.	C	T	2843.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.696;DP=919;ExcessHet=0.1072;FS=1.573;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=55.44;MQRankSum=-8.670e-01;QD=12.10;ReadPosRankSum=0.634;SOR=0.718	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1099	19	0	2	0
chr17	41189992	41189992	C	-	exonic	KRTAP9-1	.	frameshift deletion	KRTAP9-1:NM_001190460:exon1:c.106delC:p.C37Vfs*146,	.	.	420	1096	6	0	0	6	0.00272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0003	0	0.0002	0.0001617	25	154602	rs781691722	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0002	0.0009	0.0007	8.964e-05	0.0001	3.826e-05	0	0	0.0017	0.0002	0.0003	0.0002	0.0001	0.0001	0.0001	0.0002	0.0004	9.774e-05	8.284e-05	0.0002	0.0001	2.418e-05	0	0.0001	0	0	0	0	0.0003	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3652.94	34	chr17	41189991	.	AC	A	3652.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.185e+00;DP=2449;ExcessHet=0.0000;FS=2.646;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.55;MQRankSum=-2.611e+00;QD=13.43;ReadPosRankSum=-5.910e-01;SOR=0.550	GT:AD:DP:GQ:PL	0/0:260,0:260:99:0,120,1800	20	0	1	0
chr17	41226817	41226817	A	G	exonic	KRTAP9-2	.	nonsynonymous SNV	KRTAP9-2:NM_031961:exon1:c.A163G:p.T55A,	.	.	425	1074	23	0	0	23	0.0105942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.057	B	0.014	B	.	.	1.000	N	0.325	N	5.02	T	-0.908	T	0.003	T	0.144	0.312	5.690	-4.25	-1.137	-0.824	0.293	0.019	0.00107116852984	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs71371480	4.462e-06	6.164e-05	2.949e-06	6.002e-06	5.634e-05	1.61e-06	1.05e-06	9.33e-06	3.49e-06	0	0	0	5.634e-05	0	0	3.848e-06	0	0	8.37e-05	0.0040	8.167e-05	8.583e-05	0.0001	4.754e-05	3.715e-05	4.988e-05	3.582e-05	0.0001	0	6.923e-05	0	0	0	0	0.0001	0	0	0.239	0.17761	T	0.194	0.28120	T	0.057	0.22878	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	1.615	0.41426	L	4.93	0.01395	T	-2.18	0.49187	N	0.052	0.02366	-0.9083	0.47061	T	0.003	0.00800	T	9	0.069259465	0.09913	T	0.001071	0.01239	T	0.019	0.03383	0.272	0.22210	0.0806252709748	0.07271	0.06562531389351679	0.06501	1.12458278325	0.78412	0.193279489875	0.00288	T	0.016892	0.13877	T	-0.329445	0.06154	T	-0.711002	0.05244	T	0.0578466179088175	0.06824	T	0.00989901	0.00051	T	0.030785557	0.02802	0.043039963	0.05265	0.030785557	0.02801	0.043039963	0.05265	-2.973	0.09893	T	.	.	0.075	0.05491	B	.	.	-0.162279	0.03290	0.566	0.19617231370711175	0.00670	0.02148	0.06321	N	AEFBI	0.028638	0.02560	N	-1.71002807248366	0.00807	0.03487423	-1.80660392748605	0.00738	0.03290239	1.56655996843476E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.18	-4.25	0.03508	-0.848000	0.04435	-20.000000	0.00162	-0.756000	0.03544	0.000000	0.06391	0.000000	0.08366	0.172000	0.21044	0.272:0.1967:0.143:0.3883	0.293	0.00242	115	0.95340	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05	186.8	280	chr17	41226817	.	A	G	186.8	.	AC=2;AF=0.050;AN=40;BaseQRankSum=2.96;DP=6613;ExcessHet=0.1072;FS=31.807;InbreedingCoeff=-0.0635;MLEAC=2;MLEAF=0.050;MQ=56.57;MQRankSum=-9.891e+00;QD=0.25;ReadPosRankSum=-5.323e+00;SOR=4.220	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:408,0:408:39:.:.:0,39,10688	18	0	2	1
chr17	41249914	41249914	C	T	exonic	KRTAP9-4	.	nonsynonymous SNV	KRTAP9-4:NM_033191:exon1:c.C194T:p.T65I,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.204	B	0.151	B	.	.	1.000	N	0.805	L	5.33	T	-0.913	T	0.004	T	0.145	1.337	10.39	-1.07	-0.158	-0.857	5.975	0.014	0.00257700196541	0.0018	0.00199681	0.0010	0.0036	0.0002	0	0.0002	0.0013	0	0.0001	0.0002264	35	154602	rs146098518	0.0009	0.0009	0.0009	0.0009	0.0039	0.0009	0.0009	0.0033	0.0031	0.0039	0.0002	0.0012	5.051e-05	9.372e-05	0.0003	0.0010	0.0008	0.0001	0.0015	0.0018	0.0017	0.0013	0.0032	0.0013	0.0013	0.0027	0.0026	0.0032	0	0.0007	0.0012	0	0	0	0.0011	0.0014	0.0002	0.081	0.33418	T	0.045	0.49390	D	0.204	0.29802	B	0.151	0.34210	B	.	.	.	.	0.999983	0.18198	N	1.385	0.34509	L	5.33	0.01072	T	-3.75	0.71157	D	0.077	0.05162	-0.9127	0.46518	T	0.004	0.01159	T	9	0.009723157	0.00219	T	0.002577	0.05206	T	0.014	0.01968	.	.	0.180583059064	0.17676	0.06602581688881319	0.06541	0.0951501067872	0.10743	0.231563955545	0.02086	T	0.023442	0.17891	T	-0.636763	0.00087	T	-0.690178	0.06379	T	0.0174609152014572	0.00482	T	.	.	.	0.10372285	0.24517	0.11127964	0.26842	0.10372285	0.24517	0.11127964	0.26841	-5.952	0.45876	T	.	.	0.122	0.25495	B	.	.	0.833329	0.12048	8.603	0.86065850835861657	0.16291	0.03465	0.08618	N	AEFBI	0.023122	0.01246	N	-0.993808282805706	0.08735	0.4107244	-1.1158077932211	0.07398	0.3596876	1.86710188406934E-6	0.01202	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.6	-1.07	0.09459	-2.214000	0.01307	-9.340000	0.00834	0.463000	0.21641	0.000000	0.06391	0.000000	0.08366	0.164000	0.20782	0.0:0.5253:0.3521:0.1226	5.975	0.18608	111	0.95468	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2621.98	204	chr17	41249914	.	C	T	2621.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.209;DP=5331;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.95;MQRankSum=-5.826e+00;QD=15.16;ReadPosRankSum=-3.240e-01;SOR=0.653	GT:AD:DP:GQ:PL	0/0:301,0:301:99:0,120,1800	20	0	1	0
chr17	41255418	41255418	-	ACATGCTGCAGGACC	exonic	KRTAP9-9	.	nonframeshift insertion	KRTAP9-9:NM_030975:exon1:c.33_34insACATGCTGCAGGACC:p.C18_W19insCRTTC,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0.0003	0.0004	0	0.0002	0	0.0016	.	.	.	.	0.0001	0.0001	0.0001	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	0	9.887e-05	0	0.0006	0	0.0003	9.047e-05	0.0002	0.0006	0.0003	0.0002	0.0002	0.0004	0.0009	0.0002	0.0002	0.0003	0.0003	9.301e-05	0	0	0	0	0	0	0.0006	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	31242.72	98	chr17	41255418	.	T	TACCTGCTGCAGGACC,TACATGCTGCAGGACC	31242.72	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=2.14;DP=2539;ExcessHet=0.0001;FS=5.599;InbreedingCoeff=0.7311;MLEAC=26,1;MLEAF=0.619,0.024;MQ=52.57;MQRankSum=-1.273e+00;QD=33.81;ReadPosRankSum=-3.744e+00;SOR=1.018	GT:AD:DP:GQ:PL	1/1:0,55,0:55:99:2314,159,0,2320,165,2326	6	11	3	0
chr17	41302304	41302304	G	T	exonic	KRTAP29-1	.	nonsynonymous SNV	KRTAP29-1:NM_001257309:exon1:c.C548A:p.P183Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	.	.	.	.	.	.	.	.	.	.	4.49	T	-1.013	T	0.011	T	0.385	-0.149	3.273	4.17	1.161	2.341	8.091	0.169	0.00362404036815	.	.	0.0002	0	0	0	0	0	0	0.0005	2.59e-05	4	154602	rs749474229	3.719e-05	3.762e-05	2.822e-05	4.64e-05	0.0005	2.888e-05	2.615e-05	0.0004	0.0004	0	0	0	0	0	0	2.78e-06	0.0001	0.0005	1.972e-05	1.97e-05	0	4.036e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	0	0	0.0006	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	0.14455	N	4.49	0.02049	T	-4.86	0.81187	D	0.481	0.51583	-1.0134	0.25848	T	0.011	0.04134	T	5	0.3967472	0.55281	T	0.003624	0.08309	T	0.169	0.43123	0.723	0.85761	0.0762999501168	0.06990	0.0837841442126966	0.08312	.	.	0.263383388519	0.05299	T	0.01894	0.15180	T	-0.380678	0.03086	T	-0.475726	0.24901	T	0.198290851436373	0.20322	T	.	.	.	0.2118084	0.43516	0.2873454	0.54746	0.2118084	0.43516	0.2873454	0.54745	-4.998	0.36819	T	.	.	0.143	0.31532	B	.	.	2.362890	0.30306	18.40	0.59022052312569184	0.06127	0.63681	0.32165	D	AEFDGBIJ	0.102891	0.20629	N	-0.128809205189809	0.36141	2.085092	-0.172492102357155	0.32552	1.853159	0.999854100083052	0.44174	0.487112	0.14033	0	0.59043	0.45803	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	5.15	4.17	0.48303	2.558000	0.45541	5.626000	0.49100	0.676000	0.76740	0.908000	0.31627	0.991000	0.31484	0.052000	0.15357	0.1845:0.0:0.8155:0.0	8.091	0.29964	111	0.95468	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3637.98	33	chr17	41302304	.	G	T	3637.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.915e+00;DP=1737;ExcessHet=0.0000;FS=4.650;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=1.84;SOR=0.572	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1412	20	0	1	0
chr17	41350572	41350572	G	A	exonic	KRT33A	.	nonsynonymous SNV	KRT33A:NM_004138:exon1:c.C196T:p.R66C,	.	.	410	1058	53	1	0	55	0.0253339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.976	D	0.000	D	1.000	D	2.935	M	-3.36	D	1.017	D	0.898	D	0.971	4.496	24.1	4.23	1.520	7.713	14.546	0.922	0.436287017873	0.0035	0.000798722	0.0043	0.0006	0.0037	0.0001	0.0008	0.0053	0.0055	0.0065	0.0040038	619	154602	rs140696036	0.0036	0.0036	0.0033	0.0038	0.0201	0.0035	0.0034	0.0171	0.0160	0.0005	0.0040	0.0231	5.038e-05	0.0009	0.0201	0.0030	0.0058	0.0061	0.0031	0.0031	0.0033	0.0029	0.0041	0.0028	0.0027	0.0033	0.0032	0.0006	0	0.0041	0.0236	0	0.0011	0.0034	0.0037	0.0071	0.0039	0.0	0.91255	D	0.012	0.63918	D	1.0	0.90584	D	0.976	0.73562	D	0.000007	0.62929	D	0.000000	0.999999	0.58761	D	3.46	0.92336	M	-3.36	0.94067	D	-7.9	0.96191	D	0.976	0.98657	1.017	0.97482	D	0.898	0.96625	D	10	0.02853188	0.00984	T	0.436287	0.94078	D	0.922	0.98041	.	.	0.538421760271	0.53494	0.9097202378544089	0.90946	0.757084658312	0.64061	0.711831569672	0.68859	T	0.690892	0.91012	D	0.187443	0.72727	D	0.498946	0.94577	D	0.0767523785386575	0.09567	T	.	.	.	0.7987579	0.83826	0.78658015	0.87434	0.7987579	0.83828	0.78658015	0.87435	-9.252	0.69305	D	.	.	0.846	0.79557	P	.	.	5.387492	0.90267	31	0.9993401679230427	0.99535	0.99283	0.93924	D	AEFBI	0.909503	0.86623	D	0.807964928911192	0.86601	8.938252	0.733904308135246	0.84951	8.437471	0.683773634918903	0.22510	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.22	4.23	0.49319	8.096000	0.89369	6.317000	0.55438	0.591000	0.32079	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8528:0.1472	14.546	0.67619	150	0.94078	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4051.11	35	chr17	41350572	.	G	A	4051.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.07;DP=1254;ExcessHet=0.1072;FS=5.064;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.79;MQRankSum=0.629;QD=15.23;ReadPosRankSum=1.40;SOR=0.999	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1327	19	0	2	0
chr17	41379113	41379113	C	T	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon6:c.G1066A:p.V356M,	.	.	412	1108	1	1	0	3	0.00135196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.81	T	0.024	B	0.062	B	0.009	N	0.985	N	-1.135	N	.	.	-0.984	T	0.006	T	0.157	-1.793	0.010	0.759	0.272	-1.954	4.095	0.024	.	.	0.00579073	0.0024	0	8.637e-05	0.0302	0	0.0002	0.0011	0.0011	0.0022251	344	154602	rs148645199	0.0009	0.0009	0.0010	0.0009	0.0276	0.0009	0.0009	0.0262	0.0257	0	4.472e-05	0.0031	0.0276	0	0.0002	1.888e-05	0.0013	0.0010	0.0010	0.0010	0.0010	0.0010	0.0257	0.0009	0.0008	0.0221	0.0208	0	0	0	0.0029	0.0257	0	0	4.41e-05	0	0.0012	.	.	.	0.555	0.09267	T	0.024	0.19075	B	0.062	0.26930	B	0.009278	0.30438	N	0.234157	0.985026	0.24748	N	-0.95	0.01262	N	-2.48	0.89071	D	.	.	.	0.229	0.25745	-0.9838	0.34116	T	0.006	0.02206	T	9	0.008939803	0.00202	T	.	.	.	0.024	0.04979	.	.	0.255777322467	0.25185	0.10690974598968886	0.10620	0.0552089449468	0.06109	0.46092659235	0.33437	T	0.110092	0.42451	T	-0.449949	0.01130	T	-0.396784	0.33759	T	0.00646675409805137	0.00072	T	0.762924	0.38892	T	0.028923761	0.02306	0.04457378	0.05806	0.028923761	0.02306	0.04457378	0.05805	-5.001	0.36851	T	.	.	0.182	0.39477	B	.	.	-1.250542	0.00482	0.010	0.073145266585711813	0.00039	0.10519	0.16003	N	AEFDGBI	0.054249	0.09847	N	-1.38998069614707	0.02731	0.1210226	-1.24328460578461	0.05231	0.248761	0.00949678406048289	0.11864	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.05	0.759	0.17584	-1.510000	0.02366	-15.051000	0.00374	-0.820000	0.02968	0.000000	0.06391	0.000000	0.08366	0.049000	0.15107	0.1592:0.4544:0.0:0.3864	4.095	0.09460	164	0.93620	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5949.11	33	chr17	41379113	.	C	T	5949.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-6.070e-01;DP=1182;ExcessHet=0.1072;FS=1.101;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.87;MQRankSum=-9.700e-01;QD=11.80;ReadPosRankSum=1.53;SOR=0.590	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1201	19	0	2	0
chr17	41382308	41382308	A	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.T65C:p.L22P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.976	D	0.556	P	.	.	0.999	D	0	N	.	.	-1.043	T	0.078	T	0.65	0.858	8.471	5.17	2.241	1.916	5.942	0.134	0.018428726593	.	.	8.238e-06	0	0	0	0	0	0.0011	0	7.76e-05	12	154602	rs756013781	5.481e-06	0.0003	8.182e-06	2.754e-06	2.236e-05	2.36e-06	1.7e-06	1.94e-06	1.28e-06	0	2.236e-05	0	0	0	0	5.403e-06	1.659e-05	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.003	0.76473	D	0.976	0.58310	D	0.556	0.49411	P	.	.	.	.	0.999455	0.47118	D	1.245	0.31408	L	-1.89	0.84557	D	.	.	.	0.669	0.67736	-1.0427	0.16503	T	0.078	0.31042	T	8	0.66327584	0.70279	D	0.018429	0.40491	T	.	.	0.428	0.47515	0.761221526906	0.75905	0.03657958571385173	0.03604	0.342438391368	0.36184	0.435077399015	0.29903	T	0.021796	0.16915	T	0.121469	0.66520	D	-0.0632948	0.66101	T	0.91840136051178	0.57665	D	0.333767	0.07077	T	0.1847125	0.39799	0.32490122	0.58410	0.1847125	0.39799	0.32490122	0.58410	-3.974	0.23413	T	.	.	0.079	0.07130	B	.	.	1.715876	0.21849	15.37	0.98901740872576172	0.48199	0.67040	0.33290	D	AEFDBCI	0.211856	0.33761	N	0.136755772330337	0.48185	3.034055	0.188891208117852	0.49238	3.129369	0.733449985707655	0.23090	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	5.17	0.70848	1.869000	0.39156	2.221000	0.31450	0.660000	0.55035	0.999000	0.42656	1.000000	0.68203	0.332000	0.25247	0.7462:0.1678:0.086:0.0	5.942	0.18435	167	0.93508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	515.5	33	chr17	41382308	.	A	G	515.5	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-4.707e+00;DP=1692;ExcessHet=2.5830;FS=114.231;InbreedingCoeff=-0.1984;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.52;ReadPosRankSum=0.774;SOR=10.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485	14	0	7	0
chr17	41382311	41382311	C	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G62C:p.R21T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.049	B	0.026	B	.	.	0.998	N	0	N	.	.	-1.026	T	0.039	T	0.473	0.716	7.813	-0.174	0.122	-0.215	4.436	0.084	0.00843288255634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.114e-05	0.0014	3.86e-05	2.362e-05	3.828e-05	2.374e-05	2.119e-05	2.866e-05	2.541e-05	0	0	3.836e-05	2.523e-05	0	0	3.828e-05	0	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.28764	T	0.049	0.22227	B	0.026	0.20792	B	.	.	.	.	0.997716	0.22540	N	0.755	0.19153	N	-1.61	0.82254	D	.	.	.	0.508	0.53972	-1.0258	0.21821	T	0.039	0.16892	T	8	0.18996203	0.34618	T	0.008433	0.22307	T	.	.	0.37	0.38013	0.612421581757	0.60929	0.08565298375764323	0.08499	0.0546681382285	0.06050	0.306222051382	0.11336	T	0.02167	0.16835	T	-0.00440713	0.51045	T	-0.244107	0.50396	T	0.0275842688571556	0.01628	T	0.50295	0.15803	T	0.07200823	0.15984	0.06444694	0.12916	0.07200823	0.15984	0.06444694	0.12916	-3.403	0.15097	T	.	.	0.119	0.24294	B	.	.	1.042832	0.14237	10.81	0.88324392343806579	0.17887	0.65189	0.32654	D	AEFDBCI	0.111491	0.22072	N	-0.660458155333548	0.17157	0.8804225	-0.554068222297903	0.20697	1.116332	0.0465120987434442	0.14694	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	-0.174	0.12665	0.036000	0.13706	-0.541000	0.08582	0.596000	0.33519	0.869000	0.30776	0.000000	0.08366	0.387000	0.26492	0.1565:0.3623:0.0:0.4812	4.436	0.10975	167	0.93508	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	438.29	101	chr17	41382311	.	C	G,T	438.29	.	AC=5,2;AF=0.119,0.048;AN=42;BaseQRankSum=-4.980e+00;DP=1764;ExcessHet=2.5830;FS=106.599;InbreedingCoeff=-0.1982;MLEAC=5,2;MLEAF=0.119,0.048;MQ=60.00;MQRankSum=0.00;QD=0.44;ReadPosRankSum=0.860;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0,0:39:99:.:.:0,99,1485,99,1485,1485	14	0	5	0
chr17	41382311	41382311	C	T	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G62A:p.R21K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.0	B	0.001	B	.	.	1.000	N	0	N	.	.	-1.031	T	0.039	T	0.176	1.278	10.17	-0.174	0.122	-0.215	4.436	0.072	0.00559261676492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.27235	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999663	0.20745	N	1.1	0.28011	L	-1.55	0.81727	D	.	.	.	0.199	0.21969	-1.0308	0.20195	T	0.039	0.16935	T	8	0.08334431	0.13855	T	0.005593	0.14439	T	.	.	0.293	0.25560	0.657325010897	0.65446	0.07906609140832596	0.07841	0.0402348126993	0.04305	0.306056171656	0.11311	T	0.021002	0.16432	T	-0.119232	0.33249	T	-0.409045	0.32335	T	0.0497427848752955	0.05455	T	0.382662	0.09313	T	0.069265865	0.15160	0.074363045	0.16259	0.069265865	0.15160	0.074363045	0.16259	-2.912	0.09264	T	.	.	0.091	0.13080	B	.	.	1.087164	0.14705	11.26	0.93968684478021924	0.24041	0.45317	0.27512	N	AEFDBCI	0.063292	0.12223	N	-0.668850020287515	0.16912	0.8658866	-0.557939429380533	0.20595	1.110326	0.0465120987434442	0.14694	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	-0.174	0.12665	0.036000	0.13706	-0.541000	0.08582	0.596000	0.33519	0.869000	0.30776	0.000000	0.08366	0.387000	0.26492	0.1565:0.3623:0.0:0.4812	4.436	0.10975	167	0.93508	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	438.29	101	chr17	41382311	.	C	G,T	438.29	.	AC=5,2;AF=0.119,0.048;AN=42;BaseQRankSum=-4.980e+00;DP=1764;ExcessHet=2.5830;FS=106.599;InbreedingCoeff=-0.1982;MLEAC=5,2;MLEAF=0.119,0.048;MQ=60.00;MQRankSum=0.00;QD=0.44;ReadPosRankSum=0.860;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0,0:39:99:.:.:0,99,1485,99,1485,1485	14	0	5	0
chr17	41382313	41382313	C	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G60C:p.E20D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.682	P	0.142	B	.	.	0.996	N	0	N	.	.	-1.079	T	0.031	T	0.258	1.036	9.231	4.2	1.489	1.219	9.384	0.057	0.0112921981246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	0.07059	T	0.682	0.41464	P	0.142	0.33681	B	.	.	.	.	0.995951	0.23155	N	1.1	0.28011	L	-1.61	0.82254	D	.	.	.	0.319	0.35938	-1.0787	0.07602	T	0.031	0.13330	T	8	0.1758697	0.32541	T	0.011292	0.28764	T	.	.	0.215	0.13498	0.749038299637	0.74677	0.027389334383383892	0.02688	0.0406601577266	0.04362	0.292538791895	0.09292	T	0.021114	0.16497	T	-0.035849	0.46564	T	-0.289271	0.45849	T	0.188235579082126	0.19740	T	0.391661	0.09743	T	0.077502705	0.17596	0.08187276	0.18640	0.077502705	0.17595	0.08187276	0.18640	-4.176	0.26403	T	.	.	0.107	0.19919	B	.	.	1.323781	0.17281	13.07	0.98311074385310038	0.40144	0.83088	0.42236	D	AEFDBCI	0.178885	0.30617	N	-0.267547482617439	0.30410	1.695319	-0.155453402914047	0.33199	1.896604	0.828972100147742	0.24658	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	4.2	0.48814	1.950000	0.39948	0.265000	0.16590	0.596000	0.33519	0.898000	0.31380	0.000000	0.08366	0.407000	0.26939	0.0:0.8322:0.0:0.1678	9.384	0.37494	167	0.93508	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.119	263.85	46	chr17	41382313	.	C	G,T	263.85	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=-5.135e+00;DP=1402;ExcessHet=1.1607;FS=111.246;InbreedingCoeff=-0.1348;MLEAC=3,2;MLEAF=0.071,0.048;MQ=60.00;MQRankSum=0.00;QD=0.38;ReadPosRankSum=0.938;SOR=9.490	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0,0:39:99:.:.:0,99,1485,99,1485,1485	16	0	3	0
chr17	41424148	41424148	C	T	exonic	KRT37	.	nonsynonymous SNV	KRT37:NM_003770:exon1:c.G376A:p.E126K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.992	D	0.862	P	0.000	D	1.000	D	4.415	H	-3.35	D	1.104	D	0.930	D	0.819	5.237	33	4.69	2.169	4.942	16.591	0.860	0.14739559857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.992	0.64738	D	0.862	0.61339	P	0.000127	0.49741	D	0.000000	0.999782	0.49076	D	4.355	0.98483	H	-3.35	0.94022	D	-3.68	0.70314	D	0.671	0.67908	1.104	0.99799	D	0.930	0.97706	D	10	0.9651581	0.95984	D	0.147396	0.82943	D	0.860	0.95728	0.817	0.93127	0.968381089233	0.96804	0.7110351127502069	0.71045	0.320752863791	0.34277	0.431097149849	0.29359	T	0.581199	0.86289	D	0.362083	0.87411	D	0.282331	0.87249	D	0.998831570148468	0.95311	D	.	.	.	0.8625991	0.88284	0.77118576	0.86492	0.8625991	0.88286	0.77118576	0.86492	-8.036	0.61316	D	.	.	0.341	0.55950	A	.	.	4.011278	0.59175	24.1	0.99932437244478789	0.99439	0.97660	0.76227	D	AEFGBI	0.707892	0.66248	D	0.887693266018471	0.91143	10.73692	0.759715783038607	0.86880	9.033551	0.999960453985324	0.48965	0.497415	0.19182	0	0.55458	0.17659	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	4.69	4.69	0.58546	4.975000	0.63494	1.169000	0.24610	0.594000	0.32500	1.000000	0.71638	0.792000	0.26872	0.862000	0.40904	0.0:1.0:0.0:0.0	16.591	0.84617	207	0.91931	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3566.98	34	chr17	41424148	.	C	T	3566.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.95;DP=1359;ExcessHet=0.0000;FS=4.111;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=0.00;QD=13.61;ReadPosRankSum=0.352;SOR=0.936	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1234	20	0	1	0
chr17	41424414	41424414	T	G	exonic	KRT37	.	nonsynonymous SNV	KRT37:NM_003770:exon1:c.A110C:p.E37A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.666	P	0.112	B	0.026	N	1.000	N	1.65	L	-1.61	D	-0.819	T	0.293	T	0.396	0.797	8.195	2.9	1.590	-0.423	4.299	0.310	0.0282713385761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	2.052e-06	0	4.13e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	0	1.658e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	0.09687	T	0.625	0.07316	T	0.666	0.41077	P	0.112	0.31615	B	0.025718	0.26042	N	0.270263	1	0.08975	N	1.87	0.49600	L	-1.61	0.82254	D	-1.2	0.30555	N	0.211	0.23506	-0.8186	0.54022	T	0.293	0.66422	T	10	0.1401706	0.26645	T	0.028271	0.50969	D	0.310	0.63162	0.44	0.49484	0.653694015854	0.65080	0.15104603538390188	0.15026	0.138311207975	0.15596	0.464838564396	0.33973	T	0.013104	0.11397	T	-0.0401763	0.45922	T	-0.295487	0.45198	T	0.253729790449142	0.23039	T	.	.	.	0.08178109	0.18807	0.05174298	0.08389	0.08178109	0.18806	0.05174298	0.08389	-1.458	0.01680	T	.	.	0.097	0.15966	B	.	.	0.677166	0.10455	7.175	0.86128255831665024	0.16331	0.03545	0.08742	N	AEFBI	0.044199	0.07083	N	-0.624290659060365	0.18216	0.9439701	-0.72046115651546	0.16452	0.8703642	3.08330100576357E-5	0.03498	0.569682	0.32691	0	0.563428	0.19063	0	0.657636	0.52715	0	0.542086	0.14980	0	.	.	4.0	2.9	0.32809	-2.155000	0.01371	2.928000	0.35601	0.660000	0.55035	0.000000	0.06391	0.517000	0.25288	0.023000	0.12082	0.0:0.1756:0.1849:0.6395	4.299	0.10357	209	0.91859	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4808.98	109	chr17	41424414	.	T	G	4808.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.720e+00;DP=1856;ExcessHet=0.0000;FS=0.459;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.50;ReadPosRankSum=0.020;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:135,0:135:99:.:.:0,120,1800	20	0	1	0
chr17	41438514	41438514	C	T	exonic	KRT38	.	nonsynonymous SNV	KRT38:NM_006771:exon5:c.G997A:p.E333K,	.	.	394	1118	10	0	0	10	0.00445236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	0.777	N	3.535	H	-2.96	D	0.652	D	0.870	D	0.583	4.341	22.8	4.2	2.211	3.898	15.769	0.527	0.0345166622028	0.0067	0.00239617	0.0049	0.0012	0.0040	0	0.0009	0.0075	0	0.0015	0.0050258	777	154602	rs138667284	0.0076	0.0076	0.0078	0.0075	0.0089	0.0075	0.0075	0.0087	0.0087	0.0011	0.0048	0.0159	2.519e-05	0.0014	0.0023	0.0089	0.0072	0.0014	0.0049	0.0049	0.0051	0.0047	0.0076	0.0046	0.0045	0.0070	0.0068	0.0016	0	0.0054	0.0150	0	0.0009	0.0034	0.0076	0.0057	0.0012	0.004	0.65419	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000139	0.49741	D	0.000000	0.777356	0.29371	N	3.44	0.92123	M	-2.96	0.91956	D	-3.91	0.73042	D	0.385	0.42639	0.652	0.92563	D	0.870	0.95674	D	10	0.011532187	0.00252	T	0.034517	0.55729	D	0.527	0.80007	.	.	0.942032936932	0.94142	0.526093314787973	0.52533	0.303656297673	0.32687	0.531210303307	0.43206	T	0.74107	0.92829	D	-0.153487	0.27767	T	0.0131477	0.71186	D	0.0415100839992481	0.03965	T	0.925307	0.72522	D	0.53877604	0.69328	0.60344845	0.76954	0.53877604	0.69329	0.60344845	0.76955	-9.026	0.67865	D	.	.	0.400	0.59589	A	.	.	4.197130	0.63305	24.6	0.99919124140073767	0.98654	0.95366	0.64440	D	AEFGBI	0.250362	0.37043	N	0.79476893908501	0.85775	8.678541	0.676644938869523	0.80607	7.336956	0.0034421990956818	0.10119	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.2	4.2	0.48814	4.963000	0.63403	2.828000	0.35004	0.599000	0.40250	1.000000	0.71638	0.994000	0.32194	0.998000	0.85391	0.0:1.0:0.0:0.0	15.769	0.77923	222	0.91398	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2125.98	155	chr17	41438514	.	C	T	2125.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.396;DP=2843;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.10;MQRankSum=-1.394e+00;QD=12.96;ReadPosRankSum=-9.000e-01;SOR=0.650	GT:AD:DP:GQ:PL	0/0:183,0:183:99:0,120,1800	20	0	1	0
chr17	41460144	41460144	A	G	exonic	KRT32	.	nonsynonymous SNV	KRT32:NM_002278:exon7:c.T1313C:p.M438T,	.	.	417	1100	5	0	0	5	0.00226757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.0	B	0.0	B	0.951	N	1.000	N	0	N	-2.13	D	-0.758	T	0.335	T	0.185	-0.620	1.246	2.27	1.579	1.390	6.238	0.130	0.0117644185661	0.0010	0.000399361	0.0010	0.0001	8.834e-05	0	0.0003	0.0011	0	0.0028	0.0009896	153	154602	rs147160974	0.0015	0.0015	0.0014	0.0016	0.0026	0.0015	0.0015	0.0024	0.0022	0.0003	0.0003	0.0002	0	0.0002	0.0002	0.0017	0.0010	0.0026	0.0011	0.0011	0.0010	0.0012	0.0025	0.0009	0.0009	0.0016	0.0015	0.0003	0	0.0002	0	0.0002	0.0005	0	0.0019	0	0.0025	0.573	0.06125	T	0.599	0.07972	T	0.0	0.02946	B	0.0	0.01387	B	0.951284	0.07658	N	1.038910	1	0.08975	N	-0.695	0.01866	N	-2.13	0.86349	D	0.2	0.04861	N	0.136	0.13341	-0.7585	0.57487	T	0.335	0.70223	T	10	0.0135475695	0.00287	T	0.011764	0.29704	T	0.130	0.35528	.	.	0.79791122597	0.79602	0.27333614023738456	0.27246	0.135504829808	0.15275	0.45583114028	0.32741	T	0.008497	0.07800	T	-0.422324	0.01654	T	-0.384343	0.35214	T	0.00562101412964538	0.00061	T	0.0512949	0.00367	T	0.12623715	0.29573	0.11223341	0.27078	0.12623715	0.29572	0.11223341	0.27077	-1.021	0.01023	T	.	.	0.117	0.23848	B	.	.	0.431376	0.08017	4.736	0.2485591400072116	0.01119	0.17074	0.19677	N	AEFBI	0.033137	0.03873	N	-0.949008450446035	0.09715	0.4610085	-0.913061346289318	0.11786	0.6025275	0.00128060384121459	0.08400	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.48	2.27	0.27501	0.930000	0.28458	3.523000	0.38910	0.731000	0.85647	0.014000	0.18986	0.042000	0.21616	0.006000	0.07323	0.7404:0.2596:0.0:0.0	6.238	0.19987	444	0.79803	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1212.98	36	chr17	41460144	.	A	G	1212.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.125e+00;DP=1006;ExcessHet=0.0000;FS=0.726;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=-8.210e-01;SOR=0.832	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	20	0	1	0
chr17	41466178	41466178	-	TG	splicing	KRT32	NM_002278:exon2:c.469-2->CA	.	.	.	.	416	1102	4	0	0	4	0.00181159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0002	0	8.649e-05	0	0	0.0003	0	6.067e-05	0.0001617	25	154602	rs779155080	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0002	0.0005	0.0003	2.987e-05	0.0003	0.0001	0	0	0.0010	0.0003	0.0001	4.638e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.705e-05	0.0002	0.0002	7.244e-05	0	6.545e-05	0	0	0	0	0.0003	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2529.94	38	chr17	41466178	.	T	TTG	2529.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.49;DP=878;ExcessHet=0.0000;FS=0.760;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.21;ReadPosRankSum=-3.230e-01;SOR=0.853	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1381	20	0	1	0
chr17	41477198	41477198	G	A	exonic	KRT35	.	nonsynonymous SNV	KRT35:NM_002280:exon7:c.C1226T:p.P409L,	.	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.015	B	0.027	B	0.000	N	1.000	D	2.775	M	-1.48	T	-0.108	T	0.515	D	0.667	1.488	10.92	5.41	2.816	4.981	14.573	0.400	0.0561815721981	.	.	.	.	.	.	.	.	.	.	.	.	.	rs762590390	7.53e-06	7.525e-06	4.086e-06	1.101e-05	0.0002	4.04e-06	2.95e-06	3.86e-06	1.44e-06	0	0	0	0	0	0.0002	4.498e-06	4.969e-05	2.324e-05	1.972e-05	1.97e-05	1.285e-05	2.691e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.021	0.49117	D	0.032	0.53426	D	0.015	0.17086	B	0.027	0.21085	B	0.000479	0.44119	N	0.102199	0.999914	0.51042	D	2.14	0.59869	M	-1.54	0.81640	D	-8.9	0.98054	D	0.485	0.57518	-0.1078	0.79920	T	0.515	0.81806	D	10	0.4245867	0.57089	T	0.056182	0.66511	D	0.400	0.71401	0.297	0.26202	0.610337921889	0.60720	0.659121080801462	0.65849	0.0980019385645	0.11061	0.537782371044	0.44132	T	0.080749	0.44343	T	0.133547	0.67705	D	-0.0459458	0.67298	D	0.989798784255981	0.80014	D	0.807119	0.45664	T	0.26564583	0.49633	0.30332753	0.56363	0.26564583	0.49633	0.30332753	0.56362	-10.059	0.74264	D	.	.	0.139	0.46688	B	.;.	.;.	3.175396	0.43079	21.7	0.98299816175521004	0.40030	0.92332	0.55467	D	AEFDBI	0.331779	0.43139	N	0.0491871042414706	0.44105	2.690676	0.102554829560906	0.44679	2.744989	0.646330947971343	0.22110	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.41	5.41	0.78313	3.949000	0.56377	8.209000	0.76813	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.031000	0.13245	0.0:0.0:1.0:0.0	14.573	0.67817	450	0.79359	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	978.98	36	chr17	41477198	.	G	A	978.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.431e+00;DP=908;ExcessHet=0.0000;FS=3.773;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.24;ReadPosRankSum=0.121;SOR=0.390	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr17	41487406	41487406	T	A	exonic	KRT36	.	nonsynonymous SNV	KRT36:NM_003771:exon5:c.A932T:p.E311V,	.	.	411	1064	45	2	0	49	0.022508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	0.999	D	3.875	H	-2.83	D	1.054	D	0.904	D	0.952	4.810	27.2	5.95	2.274	4.643	16.407	0.826	.	0.0004	0.00239617	0.0022	0.0005	0.0020	0.0001	0	0.0011	0.0045	0.0099	0.0019599	303	154602	rs139865124	0.0015	0.0015	0.0011	0.0019	0.0346	0.0015	0.0015	0.0306	0.0291	0.0008	0.0015	0.0038	2.519e-05	3.747e-05	0.0346	0.0006	0.0028	0.0115	0.0009	0.0010	0.0007	0.0012	0.0133	0.0008	0.0008	0.0107	0.0097	0.0001	0	0.0008	0.0020	0.0002	0	0.0306	0.0006	0.0028	0.0133	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000097	0.51296	D	0.000000	0.999452	0.47118	D	3.995	0.96723	H	-2.83	0.91249	D	-6.56	0.91868	D	0.43	0.46928	1.054	0.98202	D	0.904	0.96822	D	10	0.012003839	0.00260	T	.	.	.	0.826	0.94466	.	.	0.922751822367	0.92196	0.5184686235104664	0.51769	0.841499628606	0.68094	0.47562456131	0.35455	T	0.584972	0.86467	D	0.123324	0.66705	D	0.413765	0.92547	D	0.155424858219359	0.17527	T	0.817618	0.47476	T	0.8597732	0.88068	0.89466405	0.94597	0.8597732	0.88069	0.89466405	0.94598	-11.675	0.83232	D	.	.	0.557	0.67081	A	.;.	.;.	4.570543	0.72107	25.8	0.99565129901665927	0.72014	0.94864	0.62595	D	AEFDGBCI	0.765615	0.70205	D	0.920670767402718	0.92734	11.59737	0.843328895874802	0.92620	11.53265	0.999899793254436	0.45129	0.59774	0.34471	0	0.610034	0.51514	0	0.596491	0.31596	0	0.584449	0.35598	0	.	.	5.95	5.95	0.96415	3.203000	0.50777	7.780000	0.68649	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:0.0:0.0:1.0	16.407	0.83516	445	0.79730	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3888.98	38	chr17	41487406	.	T	A	3888.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.369e+00;DP=1002;ExcessHet=0.0000;FS=6.128;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.74;ReadPosRankSum=0.839;SOR=0.392	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1485	20	0	1	0
chr17	41487407	41487407	C	A	exonic	KRT36	.	stopgain	KRT36:NM_003771:exon5:c.G931T:p.E311X,	.	.	411	1063	46	2	0	50	0.0229779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	5.965	36	5.95	2.819	7.253	20.378	.	.	0.0004	0.00239617	0.0022	0.0005	0.0020	0.0001	0	0.0011	0.0045	0.0099	0.0019599	303	154602	rs145372311	0.0015	0.0015	0.0011	0.0019	0.0346	0.0015	0.0015	0.0306	0.0291	0.0008	0.0016	0.0038	2.519e-05	3.748e-05	0.0346	0.0006	0.0028	0.0116	0.0009	0.0010	0.0007	0.0012	0.0133	0.0008	0.0008	0.0107	0.0097	0.0001	0	0.0008	0.0020	0.0002	0	0.0306	0.0006	0.0028	0.0133	.	.	.	.	.	.	.	.	.	.	.	.	0.000097	0.51296	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.136	0.15749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237408	0.77415	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	10.308796	0.99688	46	0.9978149732722128	0.86780	0.97345	0.74163	D	AEFDGBCI	0.278041	0.39242	N	1.22290231108648	0.99733	25.95499	1.09354310977779	0.99756	26.34876	0.999999598163311	0.74766	0.59774	0.34471	0	0.610034	0.51514	0	0.596491	0.31596	0	0.584449	0.35598	0	.	.	5.95	5.95	0.96415	5.814000	0.68884	7.566000	0.60594	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.938000	0.47775	0.0:1.0:0.0:0.0	20.378	0.98924	445	0.79730	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3888.98	38	chr17	41487407	.	C	A	3888.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=1000;ExcessHet=0.0000;FS=6.128;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.74;ReadPosRankSum=0.543;SOR=0.392	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1485	20	0	1	0
chr17	41489795	41489795	C	T	exonic	KRT36	.	nonsynonymous SNV	KRT36:NM_003771:exon1:c.G70A:p.G24S,	.	.	423	1093	5	1	0	7	0.00319197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	B	0.012	B	0.472	N	0.931	N	0.405	N	-1.62	D	-0.871	T	0.285	T	0.172	0.565	7.051	0.224	-0.075	-1.709	9.211	0.056	0.0404200256829	0.0009	0.000599042	0.0010	0.0003	0.0010	0	0.0002	0.0012	0.0011	0.0019	0.000925	143	154602	rs143124390	0.0014	0.0014	0.0013	0.0015	0.0030	0.0013	0.0013	0.0027	0.0026	0.0003	0.0010	3.826e-05	2.519e-05	9.403e-05	0.0017	0.0015	0.0011	0.0030	0.0010	0.0010	0.0011	0.0008	0.0025	0.0008	0.0008	0.0014	0.0011	0.0004	0	0.0013	0	0.0002	0	0	0.0014	0	0.0025	0.175	0.22400	T	0.087	0.40747	T	0.016	0.17332	B	0.012	0.16012	B	0.471772	0.12269	N	0.658399	1	0.27047	N	1.09	0.27330	L	-1.62	0.82347	D	-0.28	0.11547	N	0.132	0.12770	-0.8709	0.50462	T	0.285	0.65645	T	9	0.006036967	0.00136	T	0.04042	0.59364	D	0.056	0.15993	.	.	0.239901079897	0.23603	0.26255810240433175	0.26168	0.198595925975	0.22241	0.25968965888	0.04854	T	0.016346	0.13527	T	-0.437589	0.01336	T	-0.408606	0.32387	T	0.00243039995616962	0.00025	T	0.523348	0.17107	T	0.03797756	0.04970	0.051133092	0.08168	0.03797756	0.04970	0.051133092	0.08167	-3.261	0.13239	T	.	.	0.074	0.04975	B	.	.	0.690727	0.10591	7.298	0.94154793855850527	0.24356	0.03535	0.08727	N	AEFBI	0.049906	0.08670	N	-1.03809722429719	0.07823	0.364739	-1.04664946001479	0.08777	0.4332067	0.906094242017019	0.26222	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.49	0.224	0.14572	-0.354000	0.07731	-0.779000	0.07463	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.149000	0.20271	0.0:0.5323:0.0:0.4677	9.211	0.36479	438	0.80235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1409.98	37	chr17	41489795	.	C	T	1409.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.510e-01;DP=945;ExcessHet=0.0000;FS=1.506;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=0.890;SOR=0.912	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr17	41524943	41524943	C	T	exonic	KRT19	.	nonsynonymous SNV	KRT19:NM_002276:exon3:c.G560A:p.R187H,	.	.	0	1513	9	0	0	9	0.0029654	.	.	969964	Hereditary_breast_ovarian_cancer_syndrome|not_provided	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.994	D	0.828	P	0.000	D	1.000	D	2.33	M	-3.03	D	0.752	D	0.818	D	0.432	4.259	22.2	4.43	2.530	2.698	13.521	0.678	0.093389797205	0.0023	0.00159744	0.0020	0.0004	0.0010	0	0.0003	0.0026	0.0022	0.0032	0.0020828	322	154602	rs117671585	0.0031	0.0031	0.0031	0.0031	0.0036	0.0030	0.0030	0.0035	0.0034	0.0007	0.0018	0.0003	2.519e-05	0.0003	0.0007	0.0036	0.0027	0.0031	0.0022	0.0022	0.0022	0.0021	0.0035	0.0020	0.0019	0.0032	0.0030	0.0008	0	0.0021	0	0.0002	0.0006	0	0.0035	0.0024	0.0027	0.013	0.91255	D	0.052	0.47581	T	0.994	0.66517	D	0.828	0.59497	P	0.000207	0.47681	D	0.000000	0.999591	0.47742	D	2.57	0.75187	M	-3.03	0.92307	D	-4.57	0.81431	D	0.497	0.53006	0.752	0.93815	D	0.818	0.93862	D	10	0.02200064	0.00539	T	0.09339	0.76064	D	0.678	0.88157	.	.	0.958064169932	0.95761	0.6835932005572422	0.68298	1.5315103387	0.87593	.	.	.	0.929034	0.98786	D	-0.179608	0.23794	T	-0.0270447	0.68564	D	0.0543239168897838	0.06244	T	0.775922	0.40781	T	0.26933628	0.50006	0.17523779	0.39976	0.26933628	0.50006	0.17523779	0.39975	-8.772	0.66217	D	.	.	0.178	0.54448	B	.;.;.	.;.;.	5.064129	0.84424	28.3	0.99941585164003599	0.99797	0.80013	0.39767	D	AEFDBHCI	0.490926	0.52820	N	0.378808029954865	0.60276	4.214712	0.38453617596374	0.60611	4.25063	0.999961827757597	0.48965	0.706298	0.61202	0	0.59043	0.45803	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	5.4	4.43	0.52967	2.709000	0.46828	7.609000	0.61840	0.599000	0.40250	0.971000	0.34370	1.000000	0.68203	0.954000	0.50415	0.0:0.9248:0.0:0.0752	13.521	0.61023	406	0.82375	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2421.98	83	chr17	41524943	.	C	T	2421.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.506;DP=1702;ExcessHet=0.0000;FS=1.057;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=-8.850e-01;SOR=0.775	GT:AD:DP:GQ:PL	0/0:90,0:90:99:0,120,1800	20	0	1	0
chr17	41571748	41571748	C	T	exonic	KRT9	.	nonsynonymous SNV	KRT9:NM_000226:exon1:c.G245A:p.S82N,	Palmoplantar keratoderma, epidermolytic, Autosomal dominant	.	7	1509	5	1	0	7	0.00231405	.	.	328400	not_provided|Palmoplantar_keratoderma,_epidermolytic|KRT9-related_disorder	MedGen:C3661900|Human_Phenotype_Ontology:HP:0007559,MONDO:MONDO:0968949,MedGen:C1721006,OMIM:PS144200|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.991	D	0.831	P	0.002	N	1.000	D	1.445	L	-1.57	D	0.071	D	0.559	D	0.195	2.701	14.99	4.79	2.196	1.142	12.765	0.248	0.280503643674	0.0029	0.000798722	0.0023	0.0006	0.0008	0	0.0043	0.0031	0	0.0020	0.0022639	350	154602	rs148867398	0.0035	0.0035	0.0035	0.0035	0.0040	0.0034	0.0034	0.0039	0.0039	0.0007	0.0011	0.0007	0	0.0021	0.0028	0.0040	0.0028	0.0024	0.0022	0.0022	0.0024	0.0020	0.0038	0.0020	0.0019	0.0035	0.0033	0.0005	0.0066	0.0012	0.0014	0	0.0016	0	0.0038	0.0014	0.0008	0.061	0.37118	T	0.015	0.61642	D	0.991	0.64070	D	0.831	0.59664	P	0.002025	0.37411	N	0.000000	0.999998	0.58761	D	1.04	0.26193	L	-1.57	0.81900	D	-0.87	0.23590	N	0.212	0.23632	0.071	0.83648	D	0.559	0.83952	D	10	0.009199381	0.00208	T	0.280504	0.90213	D	0.248	0.55615	.	.	0.880113497473	0.87893	0.6325393074210756	0.63187	0.0663092466209	0.07396	0.479322195053	0.35963	T	0.137205	0.47001	T	-0.400344	0.02303	T	-0.349632	0.39248	T	0.0158474127008183	0.00371	T	0.247375	0.03654	T	0.14363283	0.33004	0.13266133	0.31829	0.14363283	0.33003	0.13266133	0.31828	-6.368	0.49260	T	0.6889395831952064	0.76638	0.322	0.54682	B	.	.	1.422955	0.18399	13.72	0.97776958918132273	0.35906	0.25808	0.22809	N	AEFBCI	0.106951	0.21324	N	-0.0496030780030289	0.39619	2.339412	-0.200529834281827	0.31518	1.784456	0.0388712907827091	0.14368	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.79	4.79	0.60909	0.948000	0.28694	2.441000	0.32772	0.547000	0.25779	0.001000	0.13787	0.018000	0.20648	0.117000	0.19042	0.1631:0.8369:0.0:0.0	12.765	0.56765	276	0.89131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	908.98	97	chr17	41571748	.	C	T	908.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.790e-01;DP=1691;ExcessHet=0.0000;FS=0.783;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.67;ReadPosRankSum=-5.510e-01;SOR=0.560	GT:AD:DP:GQ:PL	0/0:98,0:98:99:0,120,1800	20	0	1	0
chr17	41586669	41586669	G	A	exonic	KRT14	.	nonsynonymous SNV	KRT14:NM_000526:exon1:c.C166T:p.R56C,	Dermatopathia pigmentosa reticularis, Autosomal dominant;Epidermolysis bullosa simplex, Dowling-Meara type, Autosomal dominant;Epidermolysis bullosa simplex, Koebner type, Autosomal dominant;Epidermolysis bullosa simplex, Weber-Cockayne type, Autosomal dominant;Epidermolysis bullosa simplex, recessive 1, Autosomal recessive;Naegeli-Franceschetti-Jadassohn syndrome, Autosomal dominant	.	2	1500	18	2	0	22	0.00727995	.	.	715437	not_provided|Epidermolysis_bullosa_simplex_1C,_localized|Naegeli-Franceschetti-Jadassohn_syndrome|Epidermolysis_bullosa_simplex_1A,_generalized_severe|Dermatopathia_pigmentosa_reticularis|Epidermolysis_bullosa_simplex_1D,_generalized,_intermediate_or_severe,_autosomal_recessive|Epidermolysis_bullosa_simplex,_Koebner_type	MedGen:C3661900|MONDO:MONDO:0007551,MedGen:C0080333,OMIM:131800,Orphanet:79400|MONDO:MONDO:0008059,MedGen:C0343111,OMIM:161000,Orphanet:69087|MONDO:MONDO:0007550,MedGen:C0079295,OMIM:131760,Orphanet:79396|MONDO:MONDO:0007445,MedGen:C0406778,OMIM:125595,Orphanet:86920|MONDO:MONDO:0010976,MedGen:C3715082,OMIM:601001,Orphanet:89838|MONDO:MONDO:0007554,MedGen:C5561924,OMIM:131900,Orphanet:79399	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.0	B	0.0	B	0.000	D	1.000	D	1.5	L	-1.8	D	-0.612	T	0.237	T	0.408	0.753	7.992	3.4	1.210	0.082	9.076	0.380	.	0.0050	0.0061901	0.0090	0.0013	0.0030	0	0.0095	0.0090	0.0124	0.0160	0.0055885	864	154602	rs117484558	0.0082	0.0082	0.0081	0.0083	0.0141	0.0081	0.0080	0.0134	0.0132	0.0014	0.0020	0.0048	0.0001	0.0065	0.0027	0.0087	0.0072	0.0141	0.0054	0.0054	0.0056	0.0053	0.0112	0.0051	0.0050	0.0088	0.0079	0.0014	0.0022	0.0034	0.0023	0	0.0075	0.0034	0.0082	0.0052	0.0112	0.116	0.28395	T	0.1	0.38742	T	0.0	0.02946	B	0.0	0.01387	B	0.000053	0.53742	D	0.000000	0.999962	0.52935	D	3.005	0.85968	M	-1.8	0.83893	D	-2.58	0.55662	D	0.621	0.63628	-0.6123	0.64308	T	0.237	0.60427	T	10	0.008538753	0.00194	T	.	.	.	0.380	0.69780	.	.	0.74133060669	0.73900	0.7890975023116747	0.78861	0.649699804287	0.58275	0.616685152054	0.55260	T	0.448357	0.79027	T	-0.285055	0.10139	T	-0.170562	0.57392	T	0.0364909913231952	0.03067	T	0.571043	0.20346	T	0.12033522	0.28318	0.105356894	0.25324	0.12033522	0.28318	0.105356894	0.25323	-8.583	0.64977	D	0.2293726037019945	0.31028	0.337	0.55713	B	.	.	4.656435	0.74273	26.1	0.97189278484177932	0.32758	0.64521	0.32434	D	AEFDBCI	0.191915	0.31909	N	-0.523301636129456	0.21328	1.13107	-0.435261523772592	0.23970	1.310039	0.999935064420117	0.46732	0.497415	0.19182	0	0.59043	0.45803	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	4.37	3.4	0.38031	1.353000	0.33649	7.253000	0.57936	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.412000	0.27050	0.1706:0.0:0.8294:0.0	9.076	0.35683	276	0.89131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1015.98	50	chr17	41586669	.	G	A	1015.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.02;DP=1214;ExcessHet=0.0000;FS=1.772;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.65;MQRankSum=-1.930e+00;QD=11.81;ReadPosRankSum=-1.357e+00;SOR=0.509	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,114,1710	20	0	1	0
chr17	41586747	41586747	G	A	exonic	KRT14	.	nonsynonymous SNV	KRT14:NM_000526:exon1:c.C88T:p.R30C,	Dermatopathia pigmentosa reticularis, Autosomal dominant;Epidermolysis bullosa simplex, Dowling-Meara type, Autosomal dominant;Epidermolysis bullosa simplex, Koebner type, Autosomal dominant;Epidermolysis bullosa simplex, Weber-Cockayne type, Autosomal dominant;Epidermolysis bullosa simplex, recessive 1, Autosomal recessive;Naegeli-Franceschetti-Jadassohn syndrome, Autosomal dominant	.	5	1478	36	3	0	42	0.0140093	.	.	77278	not_provided|Epidermolysis_bullosa_simplex_1D,_generalized,_intermediate_or_severe,_autosomal_recessive	MedGen:C3661900|MONDO:MONDO:0010976,MedGen:C3715082,OMIM:601001,Orphanet:89838	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.32	T	0.071	B	0.007	B	0.000	D	1.000	D	1.15	L	-1.82	D	-0.609	T	0.305	T	0.411	2.496	14.30	3.92	1.186	1.269	8.172	0.336	0.0919003087165	0.0024	0.00419329	0.0051	0.0053	0.0034	0	0	0.0036	0.0062	0.0097	0.0018693	289	154602	rs201069984	0.0017	0.0017	0.0014	0.0020	0.0088	0.0016	0.0016	0.0083	0.0081	0.0049	0.0011	0.0129	0	1.979e-05	0.0083	0.0008	0.0031	0.0088	0.0025	0.0025	0.0024	0.0026	0.0081	0.0023	0.0022	0.0061	0.0054	0.0045	0	0.0027	0.0130	0	0	0.0034	0.0009	0.0028	0.0081	0.018	0.50676	D	0.022	0.57587	D	0.071	0.23930	B	0.007	0.12992	B	0.000054	0.53742	D	0.000000	0.999982	0.54805	D	2.825	0.82220	M	-1.82	0.84047	D	-3.73	0.70920	D	0.421	0.46086	-0.6090	0.64445	T	0.305	0.67612	T	10	0.0058447123	0.00130	T	0.092	0.75792	D	0.336	0.65816	.	.	0.817770694489	0.81605	0.7382263232607672	0.73767	0.649699804287	0.58275	0.543735265732	0.44973	T	0.484992	0.81207	T	-0.27893	0.10781	T	-0.166901	0.57726	T	0.0432151501061718	0.04276	T	0.567543	0.20130	T	0.1657774	0.36872	0.15565942	0.36478	0.1657774	0.36871	0.15565942	0.36477	-8.884	0.66946	D	.	.	0.496	0.64398	A	.	.	3.935106	0.57545	23.9	0.99709200195213732	0.81213	0.69373	0.34162	D	AEFBHCI	0.292534	0.40338	N	-0.299626081532119	0.29163	1.614818	-0.160226345690621	0.33017	1.884281	0.99994031114558	0.47345	0.497415	0.19182	0	0.59043	0.45803	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	4.9	3.92	0.44525	1.082000	0.30415	7.262000	0.57963	0.665000	0.62972	0.744000	0.29069	1.000000	0.68203	0.985000	0.61073	0.0789:0.0:0.6666:0.2545	8.172	0.30421	276	0.89131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	794.98	50	chr17	41586747	.	G	A	794.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.25;DP=1173;ExcessHet=0.0000;FS=1.010;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.50;MQRankSum=1.08;QD=14.72;ReadPosRankSum=-5.110e-01;SOR=0.560	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,114,1710	20	0	1	0
chr17	41611714	41611714	G	A	exonic	KRT16	.	nonsynonymous SNV	KRT16:NM_005557:exon2:c.C539T:p.A180V,	Pachyonychia congenita 1, Autosomal dominant;Palmoplantar keratoderma, nonepidermolytic, focal, Autosomal dominant	.	54	1435	32	1	0	34	0.011708	.	.	578544	not_provided|Palmoplantar_keratoderma,_epidermolytic|Pachyonychia_congenita_1	MedGen:C3661900|Human_Phenotype_Ontology:HP:0007559,MONDO:MONDO:0968949,MedGen:C1721006,OMIM:PS144200|MONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200,Orphanet:2309	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.08	T	0.094	B	0.041	B	0.226	N	1.000	N	1.53	L	-2.49	D	-0.619	T	0.399	T	0.129	2.655	14.84	-7.8	-1.411	-0.817	3.341	0.205	0.0687793059663	0.0012	0.00279553	0.0027	0.0004	0.0023	0	0	0.0019	0.0031	0.0095	0.0019081	295	154602	rs142750223	0.0016	0.0016	0.0013	0.0018	0.0090	0.0015	0.0015	0.0083	0.0081	0.0004	0.0015	0.0142	5.045e-05	0	0.0090	0.0008	0.0030	0.0088	0.0013	0.0013	0.0012	0.0014	0.0079	0.0012	0.0011	0.0059	0.0052	0.0002	0	0.0028	0.0144	0	0	0.0034	0.0008	0.0024	0.0079	0.181	0.21884	T	0.268	0.22494	T	0.094	0.25382	B	0.041	0.23986	B	0.225726	0.03485	N	1.663140	1	0.08975	N	1.725	0.44537	L	-2.49	0.89145	D	-2.11	0.48020	N	0.198	0.21839	-0.6187	0.64042	T	0.399	0.75073	T	10	0.008734137	0.00198	T	0.068779	0.70547	D	0.205	0.49236	.	.	0.374434639691	0.37057	0.3959369747124973	0.39508	0.323931943734	0.34550	0.202822953463	0.00543	T	0.508012	0.82549	D	-0.43734	0.01341	T	-0.394587	0.34016	T	0.0059826243667112	0.00066	T	0.383762	0.09387	T	0.0683087	0.14871	0.086108975	0.19927	0.079132564	0.18061	0.09049994	0.21226	-5.985	0.46154	T	0.15927862210846774	0.19356	0.121	0.25199	B	.	.	1.341161	0.17474	13.19	0.91350593529182778	0.20613	0.17544	0.19883	N	AEFBI	0.242342	0.36381	N	-1.09294577632445	0.06772	0.3127196	-1.22782316927274	0.05467	0.2605757	0.98893701569782	0.31673	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.32	-7.8	0.01078	-0.566000	0.06013	-2.331000	0.03890	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.280000	0.24017	0.1743:0.4117:0.2341:0.1799	3.341	0.06703	309	0.87553	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	416.98	21	chr17	41611714	.	G	A	416.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.050e-01;DP=589;ExcessHet=0.0000;FS=3.319;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.15;MQRankSum=0.279;QD=14.38;ReadPosRankSum=1.97;SOR=1.402	GT:AD:DP:GQ:PL	0/0:23,0:23:66:0,66,990	20	0	1	0
chr17	41612360	41612360	T	A	exonic	KRT16	.	nonsynonymous SNV	KRT16:NM_005557:exon1:c.A329T:p.D110V,	Pachyonychia congenita 1, Autosomal dominant;Palmoplantar keratoderma, nonepidermolytic, focal, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.1	B	0.036	B	0.019	N	0.998	N	0.345	N	-1.5	D	-0.834	T	0.245	T	0.232	0.235	5.266	-3.55	-0.550	0.565	13.437	0.208	0.047051497993	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1208726114	6.841e-06	6.84e-06	5.445e-06	8.25e-06	7.194e-06	3.46e-06	2.52e-06	3.09e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	3.312e-05	0	6.578e-06	6.569e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.011	0.55530	D	0.019	0.59159	D	0.1	0.25713	B	0.036	0.22909	B	0.019219	0.27308	N	0.176243	0.998158	0.22321	N	2.215	0.62545	M	-1.5	0.81318	D	-5.09	0.82961	D	0.219	0.24510	-0.8337	0.53061	T	0.245	0.61366	T	10	0.14504978	0.27519	T	0.047051	0.62746	D	0.208	0.49714	.	.	0.26169431596	0.25797	0.8821383981802624	0.88181	0.44841457362	0.44671	0.245622083545	0.03321	T	0.353107	0.72045	T	-0.0753838	0.40462	T	-0.34606	0.39656	T	0.740497052669525	0.42764	D	0.546745	0.18722	T	0.2577745	0.48824	0.26231897	0.52022	0.2577745	0.48824	0.26231897	0.52021	-14.573	0.94770	D	0.3239939228707384	0.42214	0.594	0.68632	P	.	.	2.162080	0.27548	17.50	0.65803745349277232	0.07876	0.07454	0.13471	N	AEFBI	0.129780	0.24809	N	-1.28681846887349	0.03833	0.1719481	-1.35556205499314	0.03740	0.1751093	0.906931877092199	0.26245	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	-3.55	0.04343	-0.034000	0.12176	-0.157000	0.11360	-0.133000	0.13014	0.000000	0.06391	0.003000	0.18671	0.003000	0.05239	0.0:0.1604:0.0:0.8396	13.437	0.60537	312	0.87382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2835.98	35	chr17	41612360	.	T	A	2835.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.018e+00;DP=959;ExcessHet=0.0000;FS=1.621;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.73;MQRankSum=-2.760e-01;QD=12.12;ReadPosRankSum=-7.760e-01;SOR=0.569	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1373	20	0	1	0
chr17	41811518	41811518	C	T	exonic	P3H4	.	nonsynonymous SNV	P3H4:NM_006455:exon1:c.G398A:p.R133Q,	.	.	89	1423	10	0	0	10	0.0035014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.991	D	0.662	P	0.000	D	0.948	N	1.79	L	-0.7	T	-0.786	T	0.234	T	0.288	3.694	18.76	3.41	1.048	1.389	7.848	0.277	0.900194473924	0.0041	0.00219649	0.0053	0.0019	0.0030	0	0.0035	0.0073	0.0041	0.0045	0.0042367	655	154602	rs200433757	0.0067	0.0066	0.0066	0.0067	0.0078	0.0065	0.0065	0.0076	0.0076	0.0015	0.0033	0.0013	0	0.0026	0.0023	0.0078	0.0047	0.0049	0.0050	0.0050	0.0049	0.0051	0.0081	0.0047	0.0046	0.0075	0.0073	0.0015	0.0363	0.0028	0.0017	0	0.0037	0	0.0081	0.0057	0.0037	0.099	0.30656	T	0.023	0.57104	D	0.991	0.64070	D	0.586	0.50343	P	0.000003	0.62929	D	0.056832	0.947752	0.26590	N	1.545	0.39105	L	-0.7	0.72785	T	-1.66	0.39692	N	0.218	0.24385	-0.7862	0.55950	T	0.234	0.60124	T	10	0.011135012	0.00245	T	0.900194	0.99248	D	0.277	0.59375	.	.	0.0762999501168	0.06990	0.39654065555026535	0.39569	0.855501403435	0.68735	0.796865165234	0.81485	T	0.038968	0.25026	T	-0.416183	0.01810	T	-0.365326	0.37434	T	0.0187566151484882	0.00587	T	0.840916	0.51656	T	0.09635647	0.22694	0.14154294	0.33703	0.09635647	0.22694	0.14154294	0.33702	-5.222	0.39165	T	.	.	0.113	0.22969	B	.;.	.;.	4.002391	0.58988	24.0	0.99821739916919339	0.90414	0.21155	0.21301	N	ALL	0.212340	0.33804	N	-0.233174938384371	0.31779	1.785467	-0.320889949082285	0.27424	1.521665	0.999999999235026	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.37	3.41	0.38145	1.537000	0.35689	0.878000	0.22371	-0.189000	0.09497	0.002000	0.15269	0.351000	0.24472	0.643000	0.32503	0.0:0.7428:0.164:0.0932	7.848	0.28602	554	0.71839	.;.	CNP	Breast_Mammary_Tissue	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	347.98	41	chr17	41811518	.	C	T	347.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.678;DP=740;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=-2.910e-01;SOR=0.512	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1077	20	0	1	0
chr17	41828920	41828920	T	C	exonic	NT5C3B	.	nonsynonymous SNV	NT5C3B:NM_052935:exon7:c.A437G:p.Y146C,	.	.	425	1093	4	0	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.99	D	0.754	P	0.001	D	0.994	D	1.74	L	-1.78	D	-0.119	T	0.523	D	0.396	3.040	16.15	3.19	0.505	2.725	8.451	0.527	0.152914097345	.	.	0.0001	0	0	0	0	0.0002	0	0	9.06e-05	14	154602	rs782636218	2.463e-05	2.463e-05	2.314e-05	2.613e-05	2.159e-05	1.803e-05	1.6e-05	1.46e-05	1.227e-05	0	0	0	0	3.744e-05	0	2.159e-05	0.0002	0	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.078	0.55530	T	0.114	0.36765	T	.	.	.	.	.	.	0.000950	0.40932	D	0.249304	0.993719	0.42029	D	1.87	0.49600	L	-1.78	0.83737	D	-2.73	0.63438	D	0.505	0.53708	-0.1193	0.79650	T	0.523	0.82197	D	10	0.35141474	0.51992	T	0.152914	0.83425	D	0.527	0.80007	.	.	0.736057821024	0.73370	0.5964584121782436	0.59575	0.50239789988	0.48599	0.352752506733	0.18326	T	0.61673	0.88796	D	-0.0903847	0.38012	T	-0.141906	0.59953	T	0.259205342978235	0.23280	T	0.588241	0.23235	T	0.25564036	0.48599	0.33857486	0.59634	0.25564036	0.48599	0.33857486	0.59633	-7.686	0.58910	D	.	.	0.077	0.12323	B	.;.;.;.	.;.;.;.	3.365414	0.46485	22.3	0.99119656896272446	0.52958	0.61426	0.31481	D	AEFBI	0.581194	0.58130	D	-0.122337387710274	0.36420	2.10498	-0.2482292110411	0.29833	1.674627	0.0186537409483866	0.13083	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.4	3.19	0.35720	2.850000	0.47993	1.408000	0.26256	0.665000	0.62972	0.114000	0.23067	0.955000	0.29136	0.888000	0.42677	0.1264:0.0:0.1436:0.73	8.451	0.32035	539	0.73055	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2053.98	37	chr17	41828920	.	T	C	2053.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.65;DP=873;ExcessHet=0.0000;FS=1.265;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=0.447;SOR=0.828	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1319	20	0	1	0
chr17	42040181	42040181	C	T	exonic	C17orf113	.	nonsynonymous SNV	C17orf113:NM_001358661:exon3:c.G1552A:p.A518T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1262611863	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.571e-06	6.567e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999994	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18257254	0.33543	T	.	.	.	.	.	.	.	.	.	0.33932591832900727	0.33845	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.570043	0.20293	T	0.05215316	0.09685	0.25041515	0.50632	0.05215316	0.09685	0.25041515	0.50631	-5.306	0.40003	T	.	.	0.103	0.18331	B	.	.	2.241371	0.28623	17.86	0.93650470231375504	0.23534	0.32445	0.24587	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.605880491523443	0.21764	0.11394	0.02926	0	0.097471	0.02872	0	0.099915	0.03048	0	0.166187	0.04126	0	0.221137	0.31374	4.98	2.95	0.33285	1.288000	0.32901	1.030000	0.23473	0.599000	0.40250	0.945000	0.32849	0.347000	0.24452	0.771000	0.36558	0.4361:0.4792:0.0:0.0847	6.816	0.23015	489	0.76795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	32.51	2	chr17	42040181	.	C	T	32.51	.	AC=2;AF=0.053;AN=38;DP=84;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.1907;MLEAC=1;MLEAF=0.026;MQ=60.00;QD=16.26;SOR=0.693	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,34	18	1	0	2
chr17	42104866	42104866	C	T	exonic	DHX58	.	nonsynonymous SNV	DHX58:NM_024119:exon11:c.G1463A:p.R488Q,	.	.	.	.	.	.	.	.	.	.	.	2761458	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.54	T	0.994	D	0.657	P	0.122	N	0.626	N	1.46	L	3.52	T	-1.080	T	0.023	T	0.125	2.827	15.42	3.67	1.403	0.881	9.157	0.050	0.0126766181734	.	.	4.954e-05	0	0.0002	0	0	3.007e-05	0	0.0001	4.53e-05	7	154602	rs367778648	3.078e-05	3.078e-05	2.314e-05	3.85e-05	0.0004	2.347e-05	2.095e-05	0.0003	0.0003	2.987e-05	4.472e-05	3.826e-05	0	0	0	6.295e-06	0	0.0004	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.235	0.18000	T	0.322	0.19016	T	0.99	0.63424	D	0.406	0.44683	B	0.122292	0.18961	N	0.465346	0.626093	0.30739	N	1.735	0.44892	L	3.52	0.04905	T	-1.32	0.32991	N	0.31	0.34981	-1.0802	0.07310	T	0.023	0.09696	T	10	0.16795883	0.31320	T	0.012677	0.31464	T	0.050	0.13987	0.374	0.38667	0.564986160551	0.56162	0.4706266313683839	0.46981	0.318609977021	0.34082	0.325648933649	0.14276	T	0.11231	0.42848	T	-0.453242	0.01080	T	-0.652159	0.08803	T	0.331295877695084	0.26277	T	0.790821	0.43180	T	0.03337367	0.03544	0.06500569	0.13112	0.03337367	0.03543	0.06500569	0.13112	-7.59	0.58241	D	.	.	0.085	0.09965	B	.	.	2.779528	0.36511	20.3	0.99885367454004692	0.96049	0.43894	0.27199	N	AEFBI	0.126663	0.24370	N	-0.13049311100179	0.36068	2.07997	-0.176098309925577	0.32418	1.844126	0.976572277450849	0.29738	0.700653	0.57754	0	0.702456	0.74545	0	0.717052	0.78885	0	0.567892	0.33627	0	.	.	5.68	3.67	0.41236	1.236000	0.32286	0.433000	0.18345	-0.810000	0.03076	0.316000	0.25468	0.538000	0.25400	0.082000	0.17360	0.0:0.7755:0.0:0.2245	9.157	0.36162	323	0.86843	Helicase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1976.98	34	chr17	42104866	.	C	T	1976.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.22;DP=821;ExcessHet=0.0000;FS=1.355;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.54;ReadPosRankSum=-1.545e+00;SOR=0.569	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1254	20	0	1	0
chr17	42184507	42184507	G	C	exonic	HCRT	.	nonsynonymous SNV	HCRT:NM_001524:exon2:c.C43G:p.L15V,	.	.	1	1517	4	0	0	4	0.00131666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.999	D	0.976	D	0.380	U	0.927	D	1.67	L	-1.7	D	0.266	D	0.659	D	0.319	5.241	33	4.38	2.432	0.885	17.478	0.323	0.0523102601945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.132e-06	2.052e-06	1.408e-06	2.87e-06	9.16e-07	5.7e-07	1.6e-07	.	.	0	0	0	0	0	0	9.16e-07	3.408e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.24090	T	0.771	0.04461	T	0.999	0.77913	D	0.976	0.73562	D	0.380244	0.13399	U	0.586924	0.927198	0.36857	D	2.125	0.59049	M	-1.7	0.83072	D	0.38	0.03579	N	0.34	0.38129	0.266	0.87005	D	0.659	0.88144	D	10	0.54763544	0.64074	D	0.05231	0.65021	D	0.323	0.64522	0.638	0.77470	0.840425016916	0.83889	0.5766951461758126	0.57598	1.96447962958	0.93503	0.560749650002	0.47374	T	0.614701	0.87839	D	0.026862	0.55304	T	-0.199191	0.54724	T	0.965694427490234	0.67347	D	0.537746	0.18100	T	0.16168788	0.36195	0.20396304	0.44497	0.16168788	0.36195	0.20396304	0.44496	-4.787	0.34440	T	0.08987277991734725	0.05537	0.081	0.08176	B	.	.	2.498318	0.32247	18.98	0.99771205983049771	0.85918	0.97530	0.75350	D	ALL	0.290851	0.40212	N	0.445060890009647	0.63923	4.635744	0.40719817288903	0.62014	4.409838	1.0	0.98316	0.437478	0.07067	0	0.606814	0.50340	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.38	4.38	0.52019	0.969000	0.28967	3.741000	0.39650	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	17.478	0.87558	312	0.87382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	384.98	37	chr17	42184507	.	G	C	384.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.810e-01;DP=679;ExcessHet=0.0000;FS=1.356;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=-7.200e-02;SOR=0.628	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,1350	20	0	1	0
chr17	42502837	42502837	A	G	exonic	ATP6V0A1	.	nonsynonymous SNV	ATP6V0A1:NM_001378534:exon18:c.A2069G:p.Q690R	.	.	966	554	2	0	0	2	0.0018018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	0.0006	0	0	0	0	0	0	0.0089	0.0002587	40	154602	rs532635532	0.0023	6.043e-05	0	0.0038	.	0	0	.	.	.	.	.	.	0.0023	.	0	0	0	0.0010	0.0010	0.0010	0.0011	0.0027	0.0009	0.0009	0.0016	0.0013	0.0002	0	0.0002	0	0	0.0031	0	0.0015	0.0005	0.0027	.	.	.	0.531	0.10069	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	.	.	.	.	.	.	.	.	.	.	.	.	0.0125415325	0.00269	T	.	.	.	.	.	.	.	0.880938776493	0.87977	.	.	.	.	.	.	.	.	.	.	-0.0228192	0.48450	T	0.198171	0.83028	D	.	.	.	0.324568	0.06628	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07889	B	.	.	3.064261	0.41164	21.3	0.74265743189696898	0.10632	0.82460	0.41684	D	AEFBI	0.141130	0.26322	N	.	.	.	.	.	.	0.0354425534384302	0.14200	0.372202	0.05800	0	0.546412	0.12157	0	0.54472	0.12158	0	0.714379	0.83352	0	.	.	5.25	4.17	0.48303	1.258000	0.32547	3.144000	0.36496	0.756000	0.94297	0.936000	0.32490	0.972000	0.29809	0.998000	0.85391	0.7147:0.2078:0.0775:0.0	7.257	0.25356	165	0.93588	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	909.98	33	chr17	42502837	.	A	G	909.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.813e+00;DP=771;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.83;ReadPosRankSum=-2.659e+00;SOR=0.699	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1165	20	0	1	0
chr17	42585200	42585200	G	A	exonic	RETREG3	.	nonsynonymous SNV	RETREG3:NM_178126:exon6:c.C652T:p.R218W,	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.007	B	0.003	B	0.000	N	0.640	D	0.97	L	0.73	T	-1.074	T	0.071	T	0.222	2.969	15.90	-1.38	0.107	1.211	5.442	0.062	0.0113516658516	7.7e-05	.	4.128e-05	9.654e-05	0	0	0	1.502e-05	0.0011	0.0001	3.23e-05	5	154602	rs141899496	3.216e-05	3.215e-05	2.723e-05	3.713e-05	0.0003	2.478e-05	2.221e-05	7.997e-05	6.236e-05	0	4.472e-05	0	0	1.88e-05	0.0003	2.338e-05	6.623e-05	0.0001	2.629e-05	2.627e-05	2.57e-05	2.69e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.032	0.44694	D	0.08	0.41913	T	0.007	0.14184	B	0.003	0.08700	B	0.000102	0.50451	N	0.198275	0.639631	0.32864	D	.	.	.	0.73	0.50721	T	-3.8	0.71762	D	0.217	0.24260	-1.0739	0.08577	T	0.071	0.28936	T	10	0.18567318	0.33998	T	0.011352	0.28886	T	0.062	0.17934	.	.	0.62963637804	0.62661	0.7292832344568468	0.72873	0.141534643291	0.15957	0.366162985563	0.20280	T	0.257642	0.62870	T	-0.36192	0.04022	T	-0.48335	0.24090	T	0.128796949592394	0.15269	T	0.870113	0.57669	D	0.17021275	0.37583	0.16731478	0.38607	0.17021275	0.37582	0.16731478	0.38606	-5.936	0.45741	T	.	.	0.077	0.06387	B	.;.	.;.	2.619339	0.34034	19.51	0.98761628478383401	0.45816	0.80801	0.40347	D	AEFGBI	0.534146	0.55331	D	-0.600941943430809	0.18916	0.9859436	-0.47928621528193	0.22725	1.235741	0.999987349774759	0.51787	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.03	-1.38	0.08554	1.223000	0.32131	-0.069000	0.12322	-0.119000	0.14319	0.819000	0.29975	0.000000	0.08366	0.997000	0.79791	0.2934:0.0:0.3853:0.3213	5.442	0.15813	207	0.91931	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2270.98	40	chr17	42585200	.	G	A	2270.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=1031;ExcessHet=0.0000;FS=1.183;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=0.742;SOR=0.574	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1281	20	0	1	0
chr17	42713240	42713240	G	T	exonic	EZH1	.	nonsynonymous SNV	EZH1:NM_001321079:exon10:c.C1191A:p.D397E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.008	B	0.000	D	0.997	D	-1.375	N	-1.16	T	-0.874	T	0.116	T	0.649	0.890	8.616	4.37	1.423	2.246	10.655	0.342	0.0235486982884	.	.	8.238e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs757033020	1.368e-06	1.368e-06	0	2.751e-06	2.32e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.97	0.02052	T	0.778	0.04737	T	0.001	0.07471	B	0.002	0.08700	B	0.000000	0.84330	D	0.043959	0.996802	0.43428	D	0.925	0.23481	L	-1.16	0.78082	T	-0.06	0.07882	N	0.342	0.38335	-0.8739	0.50234	T	0.116	0.40986	T	10	0.06125486	0.07652	T	0.023549	0.46515	T	0.342	0.66392	0.279	0.23323	0.576639666579	0.57332	0.1320107888894082	0.13126	2.33439091465	0.96697	0.780615389347	0.79020	T	0.070372	0.33944	T	0.0107436	0.53126	T	-0.121714	0.61661	T	0.242389589548111	0.22529	T	0.682432	0.29103	T	0.07399599	0.16573	0.07955591	0.17921	0.07399599	0.16573	0.07955591	0.17920	-3.691	0.19185	T	.	.	0.234	0.53808	B	.;.;.;.;.	.;.;.;.;.	1.865729	0.23701	16.12	0.85623325830553321	0.16008	0.95434	0.64705	D	AEFBI	0.446599	0.50259	N	-0.625259546860102	0.18188	0.9422685	-0.329961435543282	0.27136	1.503664	0.0312175439037404	0.13989	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.674467	0.66132	0	.	.	5.36	4.37	0.51830	1.788000	0.38346	5.121000	0.47587	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1581:0.0:0.8419:0.0	10.655	0.44863	240	0.90628	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	953.98	33	chr17	42713240	.	G	T	953.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.147e+00;DP=762;ExcessHet=0.0000;FS=1.877;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=1.41;SOR=0.467	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1144	20	0	1	0
chr17	42780853	42780853	C	T	exonic	WNK4	.	nonsynonymous SNV	WNK4:NM_032387:exon1:c.C155T:p.P52L,	Pseudohypoaldosteronism, type IIB, Autosomal dominant	.	4	1517	1	0	0	1	0.000329489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.02	B	0.012	B	0.035	N	0.993	D	0.55	N	-0.54	T	-0.829	T	0.189	T	0.157	2.738	15.12	4.19	2.499	3.168	12.217	0.104	0.315628983228	.	.	8.674e-05	0	0	0	0	1.793e-05	0	0.0005	5.82e-05	9	154602	rs748218580	2.896e-05	2.873e-05	1.235e-05	4.572e-05	0.0004	2.168e-05	1.923e-05	0.0003	0.0003	0	0	0	0	0	0.0002	2.701e-06	0	0.0004	1.971e-05	1.97e-05	1.285e-05	2.69e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	0	0	0.0006	0.122	0.27663	T	0.492	0.11479	T	0.02	0.18235	B	0.012	0.16012	B	0.035459	0.24643	N	0.292710	0.992775	0.41739	D	1.7	0.43825	L	-0.54	0.70950	T	-2.93	0.61284	D	0.171	0.18239	-0.8288	0.53378	T	0.189	0.53990	T	10	0.071804315	0.10635	T	0.315629	0.91320	D	0.104	0.29647	0.238	0.16912	0.685188464609	0.68250	0.2107586730043905	0.20991	0.6592716153	0.58797	0.80191719532	0.82255	T	0.215293	0.57713	T	-0.334375	0.05788	T	-0.366364	0.37313	T	0.0790024192325276	0.09858	T	0.758424	0.38228	T	0.18658882	0.40073	0.2178859	0.46472	0.18658882	0.40073	0.2178859	0.46471	-4.546	0.31486	T	.	.	0.093	0.14247	B	.	.	3.597822	0.50803	23.0	0.99708603774493287	0.81143	0.56057	0.30020	D	ALL	0.417791	0.48569	N	-0.418952549892547	0.24804	1.341975	-0.309638911111058	0.27786	1.54434	0.999999992677061	0.74766	0.437478	0.07067	0	0.550933	0.16991	0	0.606814	0.37721	0	0.618803	0.45993	0	.	.	5.36	4.19	0.48645	1.615000	0.36533	5.679000	0.49287	0.500000	0.22704	0.002000	0.15269	0.989000	0.31174	0.267000	0.23694	0.0:0.9015:0.0:0.0985	12.217	0.53721	237	0.90758	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	787.98	34	chr17	42780853	.	C	T	787.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.579;DP=723;ExcessHet=0.0000;FS=4.058;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.45;ReadPosRankSum=-4.800e-02;SOR=0.652	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1036	20	0	1	0
chr17	42788328	42788328	G	A	exonic	WNK4	.	nonsynonymous SNV	WNK4:NM_001321299:exon9:c.G953A:p.G318E	Pseudohypoaldosteronism, type IIB, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.96	D	0.59	P	0.000	D	0.900	D	1.245	L	1.5	T	-1.035	T	0.093	T	0.573	3.738	18.98	5.35	2.520	2.686	17.830	0.099	0.013362740259	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.25873	T	0.247	0.23914	T	0.868	0.47740	P	0.23	0.38212	B	0.000190	0.48115	D	0.000000	0.89957	0.36139	D	1.61	0.41143	L	1.5	0.31205	T	-2.32	0.51478	N	0.363	0.40465	-1.0354	0.18731	T	0.093	0.35417	T	10	0.31273898	0.48731	T	0.013363	0.32703	T	0.099	0.28413	0.198	0.11110	0.49382923527	0.49017	0.2583806040157493	0.25752	0.216627793868	0.24185	0.539783895016	0.44415	T	0.269029	0.64119	T	-0.0955518	0.37161	T	-0.37503	0.36302	T	0.903034687042236	0.55614	D	0.949005	0.80370	D	0.29080442	0.52067	0.38409656	0.63358	0.29080442	0.52067	0.38409656	0.63358	-10.327	0.75846	D	.	.	0.199	0.42215	B	.	.	3.220445	0.43878	21.8	0.99674488718507281	0.78846	0.83712	0.42812	D	AEFBI	0.340345	0.43719	N	0.300994126729665	0.56201	3.784368	0.366308564435378	0.59496	4.127964	0.838350891325081	0.24820	0.516011	0.20929	0	0.588066	0.40923	0	0.576033	0.28219	0	0.586402	0.36253	0	.	.	5.35	5.35	0.76297	3.024000	0.49358	9.924000	0.82528	0.665000	0.62972	0.998000	0.41325	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	17.830	0.88591	239	0.90673	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1734.98	34	chr17	42788328	.	G	A	1734.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.91;DP=916;ExcessHet=0.0000;FS=0.587;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=-2.870e-01;SOR=0.602	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,114,1710	20	0	1	0
chr17	42793595	42793595	T	C	exonic	WNK4	.	nonsynonymous SNV	WNK4:NM_001321299:exon11:c.T1153C:p.Y385H	Pseudohypoaldosteronism, type IIB, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.234	B	0.061	B	0.001	N	0.839	N	0.55	N	1.39	T	-1.053	T	0.045	T	0.26	0.874	8.544	4.46	1.866	2.432	7.288	0.047	0.00982490935573	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1400231830	2.052e-06	2.052e-06	2.723e-06	1.375e-06	1.159e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.15047	T	0.588	0.08273	T	0.057	0.22878	B	0.015	0.17295	B	0.001460	0.38980	N	0.000000	0.838648	0.28661	N	1.245	0.31408	L	1.39	0.33842	T	-0.44	0.14588	N	0.347	0.38848	-1.0530	0.13574	T	0.045	0.19478	T	10	0.15978709	0.30014	T	0.009825	0.25608	T	0.047	0.12962	0.357	0.35897	0.459906663326	0.45615	0.17916283843384448	0.17835	0.216532944329	0.24176	0.645919680595	0.59405	T	0.17985	0.53099	T	-0.18073	0.23628	T	-0.497383	0.22619	T	0.489171773195267	0.32234	T	0.868613	0.57103	D	0.06631601	0.14256	0.06713895	0.13849	0.06631601	0.14256	0.06713895	0.13849	-2.185	0.03968	T	.	.	0.202	0.42678	B	.	.	2.716716	0.35524	19.92	0.95107868604214119	0.26191	0.58685	0.30708	D	AEHCI	0.100677	0.20239	N	-0.364642881200651	0.26737	1.461531	-0.207714043630715	0.31258	1.767304	0.825224776375448	0.24595	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.46	4.46	0.53567	2.585000	0.45776	7.803000	0.69204	0.665000	0.62972	0.990000	0.36992	1.000000	0.68203	0.848000	0.40082	0.3122:0.0:0.0:0.6878	7.288	0.25522	240	0.90628	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	676.98	34	chr17	42793595	.	T	C	676.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.230;DP=775;ExcessHet=0.0000;FS=0.932;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.53;ReadPosRankSum=1.20;SOR=0.882	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1197	20	0	1	0
chr17	42796301	42796301	C	T	exonic	WNK4	.	nonsynonymous SNV	WNK4:NM_001321299:exon16:c.C2602T:p.R868C	Pseudohypoaldosteronism, type IIB, Autosomal dominant	.	0	1513	9	0	0	9	0.0029654	.	.	345994	Pseudohypoaldosteronism_type_2B|not_provided	MONDO:MONDO:0013777,MedGen:C1840390,OMIM:614491,Orphanet:757,Orphanet:88939|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.997	D	0.000	D	1.000	D	1.59	L	-0.75	T	-0.238	T	0.390	T	0.762	2.536	14.44	3.86	2.542	2.344	12.678	0.425	.	0.0021	0.00359425	0.0064	0.0005	0.0012	0	0.0311	0.0069	0.0125	0.0053	0.005097	788	154602	rs56116165	0.0045	0.0045	0.0044	0.0045	0.0052	0.0044	0.0043	0.0048	0.0046	0.0005	0.0009	0.0028	5.046e-05	0.0241	0.0043	0.0039	0.0046	0.0052	0.0046	0.0046	0.0036	0.0057	0.0058	0.0043	0.0042	0.0042	0.0041	0.0007	0	0.0008	0.0017	0	0.0289	0	0.0047	0.0014	0.0058	0.001	0.78490	D	0.014	0.62352	D	1.0	0.90584	D	0.997	0.86255	D	0.000402	0.44736	D	0.000000	0.999932	0.51612	D	1.81	0.47622	L	-0.75	0.73311	T	-3.88	0.72710	D	0.767	0.76481	-0.2379	0.76681	T	0.390	0.74438	T	10	0.008295596	0.00188	T	.	.	.	0.425	0.73299	.	.	0.876928265504	0.87572	0.4720821057718454	0.47127	0.816322739152	0.66953	0.694145798683	0.66301	T	0.446394	0.78906	T	-0.157439	0.27156	T	0.00368485	0.70574	D	0.0113649985033886	0.00169	T	0.960904	0.85339	D	0.37872845	0.59225	0.36245513	0.61651	0.4254318	0.62452	0.3611353	0.61542	-4.686	0.33234	T	.	.	0.377	0.58233	A	.	.	4.778539	0.77428	26.7	0.99700702097194427	0.80591	0.92663	0.56244	D	AEFDBCI	0.660063	0.63076	D	0.535797730724398	0.69222	5.32643	0.510282439447533	0.68679	5.253657	0.999992087269126	0.74766	0.554377	0.28877	0	0.514364	0.08380	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	4.88	3.86	0.43689	2.649000	0.46321	6.021000	0.52793	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.2902:0.7098:0.0:0.0	12.678	0.56269	240	0.90628	.	.	.	.	.	rs56116165	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1417.98	35	chr17	42796301	.	C	T	1417.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.58;ReadPosRankSum=0.056;SOR=0.618	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1068	20	0	1	0
chr17	42798090	42798090	G	C	exonic	COA3	.	nonsynonymous SNV	COA3:NM_001040431:exon2:c.C292G:p.R98G,	.	.	425	1096	1	0	0	1	0.000455996	.	.	1933661	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.911	P	0.592	P	0.003	N	0.926	D	1.39	L	.	.	-0.814	T	0.172	T	0.345	3.453	17.70	4.27	2.937	2.163	13.862	0.131	0.00588329265628	0.0002	.	0.0002	0	0	0.0001	0	0.0004	0	0	0.0001682	26	154602	rs150778923	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0002	0.0005	0.0003	0	0.0002	0.0006	0	0	0.0010	0.0003	0.0002	3.478e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	2.407e-05	0	0.0003	0.0003	0	0	0	0.0004	0.0005	0.0004	0.022	0.48642	D	0.066	0.44501	T	0.911	0.50336	P	0.592	0.50503	P	0.002998	0.35606	N	0.236065	0.92638	0.36833	D	2.125	0.59049	M	.	.	.	-1.33	0.33197	N	0.234	0.26354	-0.8142	0.54294	T	0.172	0.51325	T	9	0.15910798	0.29904	T	0.005883	0.15310	T	0.131	0.35738	.	.	0.712887574675	0.71037	0.5184929293862941	0.51772	0.792395878922	0.65867	0.522391080856	0.41963	T	0.052819	0.29268	T	-0.260939	0.12791	T	-0.310876	0.43564	T	0.0755666494369507	0.09410	T	0.751925	0.37414	T	0.18116775	0.39273	0.18400858	0.41427	0.22362012	0.44986	0.21599464	0.46209	-5.705	0.43738	T	.	.	0.226	0.45810	B	.	.	3.778953	0.54322	23.5	0.99295156952163643	0.58397	0.91932	0.54576	D	AEFDGBCI	0.575779	0.57803	D	0.429385649275836	0.63045	4.530844	0.46464733892241	0.65664	4.852302	0.999999964577059	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.31	4.27	0.50009	1.740000	0.37852	4.713000	0.44466	0.654000	0.53741	0.997000	0.40164	1.000000	0.68203	0.949000	0.49496	0.0:0.0:0.7588:0.2412	13.862	0.63067	240	0.90628	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1350.98	36	chr17	42798090	.	G	C	1350.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.845;DP=816;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.07;ReadPosRankSum=-8.050e-01;SOR=0.699	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1409	20	0	1	0
chr17	42818246	42818246	C	T	exonic	BECN1	.	nonsynonymous SNV	BECN1:NM_001314000:exon5:c.G430A:p.E144K	.	.	426	1089	7	0	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.412	B	0.125	B	0.000	D	1.000	D	0.85	L	0.95	T	-1.078	T	0.061	T	0.354	2.985	15.95	5.82	2.745	4.189	20.109	0.147	.	0.0021	0.00299521	0.0049	0.0002	0.0006	0	0.0251	0.0053	0.0110	0.0036	0.0044889	694	154602	rs138937709	0.0038	0.0038	0.0038	0.0037	0.0042	0.0037	0.0036	0.0034	0.0033	0.0004	0.0005	0.0003	0	0.0224	0.0042	0.0033	0.0037	0.0038	0.0039	0.0039	0.0028	0.0050	0.0046	0.0036	0.0035	0.0033	0.0032	0.0006	0	0.0005	0	0	0.0264	0	0.0037	0.0014	0.0046	0.222	0.21634	T	0.653	0.55341	T	0.183	0.35138	B	0.125	0.32635	B	0.000003	0.62929	D	0.103982	0.999949	0.51968	D	1.24	0.30952	L	0.95	0.43279	T	-1.24	0.36385	N	0.461	0.51940	-1.0782	0.07701	T	0.061	0.25383	T	10	0.0062277615	0.00140	T	.	.	.	0.147	0.38986	.	.	0.245697971988	0.24196	0.5464467522433635	0.54570	0.573564138747	0.53406	0.512876868248	0.40625	T	0.186712	0.58301	T	-0.446241	0.01188	T	-0.41323	0.31852	T	0.0138249494743303	0.00262	T	0.950005	0.80823	D	0.31805155	0.54474	0.4295087	0.66630	0.31805155	0.54474	0.4295087	0.66630	-5.328	0.40219	T	.	.	0.061	0.24867	B	.;.;.;.;.	.;.;.;.;.	3.377051	0.46690	22.3	0.99838484034008446	0.91886	0.96896	0.71531	D	AEFDBIJ	0.564071	0.57100	D	0.0298630236210769	0.43216	2.618965	0.227048003608571	0.51353	3.318626	0.999999997116105	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.82	5.82	0.92740	4.264000	0.58657	7.685000	0.65502	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.109	0.97905	242	0.90534	.;.;.;.;.	.	.	.	.	rs138937709	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1781.98	35	chr17	42818246	.	C	T	1781.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.823;DP=801;ExcessHet=0.0000;FS=2.480;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.23;ReadPosRankSum=0.336;SOR=0.961	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1220	20	0	1	0
chr17	42844870	42844870	G	A	exonic	AOC2	.	nonsynonymous SNV	AOC2:NM_001158:exon1:c.G244A:p.A82T	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.981	D	0.824	P	0.006	N	0.989	D	1.475	L	1.45	T	-1.093	T	0.110	T	0.344	2.969	15.90	4.99	2.606	2.011	11.885	0.098	0.00655830723686	0.0018	0.000399361	0.0010	0.0004	0.0005	0	0	0.0017	0	0.0003	0.0010026	155	154602	rs139603521	0.0020	0.0020	0.0021	0.0019	0.0025	0.0020	0.0019	0.0024	0.0024	0.0003	0.0003	3.841e-05	0	3.761e-05	0	0.0025	0.0016	0.0003	0.0011	0.0011	0.0012	0.0009	0.0020	0.0009	0.0009	0.0018	0.0017	0.0005	0	0.0002	0	0	0	0	0.0020	0.0009	0.0004	0.011	0.56456	D	0.087	0.40909	T	0.981	0.59675	D	0.824	0.59271	P	0.006259	0.32164	N	0.344745	0.989278	0.40921	D	2.155	0.60227	M	1.45	0.32482	T	-1.64	0.39314	N	0.218	0.31365	-1.0932	0.05020	T	0.110	0.39699	T	10	0.013290256	0.00282	T	0.006558	0.17301	T	0.098	0.28162	.	.	0.462809833587	0.45907	0.345807186843991	0.34494	0.0512075118454	0.05634	0.418348014355	0.27610	T	0.141816	0.47708	T	-0.37543	0.03328	T	-0.325286	0.41992	T	0.0612307800964604	0.07361	T	0.940639	0.78384	D	0.3065857	0.53489	0.34650066	0.60317	0.3065857	0.53489	0.34650066	0.60317	-8.748	0.66172	D	.	.	0.108	0.26074	B	.;.	.;.	3.466656	0.48348	22.6	0.99905248291443438	0.97576	0.67187	0.33342	D	AEFDGBHCI	0.220830	0.34553	N	0.286382581808364	0.55457	3.709818	0.266739338718964	0.53608	3.528884	0.996816991095992	0.35031	0.372202	0.05800	0	0.379588	0.06130	0	0.486962	0.07600	0	0.491896	0.07777	0	.	.	4.99	4.99	0.65942	1.492000	0.35203	5.493000	0.48753	0.590000	0.31872	0.072000	0.22128	1.000000	0.68203	0.982000	0.59238	0.0796:0.0:0.9204:0.0	11.885	0.51876	262	0.89730	Copper amine oxidase, N2-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1489.98	35	chr17	42844870	.	G	A	1489.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.40;DP=830;ExcessHet=0.0000;FS=3.441;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=-9.750e-01;SOR=0.794	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1270	20	0	1	0
chr17	42955903	42955903	G	A	exonic	AARSD1;PTGES3L-AARSD1	.	nonsynonymous SNV	AARSD1:NM_001261434:exon7:c.C733T:p.R245W	.	.	431	1084	4	3	0	10	0.00459137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.085	M	0.61	T	-0.079	T	0.359	T	0.977	4.070	20.9	5.52	2.579	2.500	13.473	0.620	0.0375016706228	0.0002	0.00179712	0.0007	0	0.0003	0.0001	0	0.0002	0.0011	0.0044	0.0006921	107	154602	rs201941576	0.0004	0.0004	0.0002	0.0005	0.0045	0.0003	0.0003	0.0041	0.0040	0	0.0002	0.0002	0.0001	0	0.0007	0.0001	0.0003	0.0045	0.0002	0.0003	0.0001	0.0004	0.0058	0.0002	0.0002	0.0041	0.0036	2.41e-05	0	6.555e-05	0	0.0004	0	0	7.352e-05	0.0005	0.0058	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.000000	.	.	.	2.765	0.80766	M	0.61	0.53516	T	-7.9	0.96191	D	0.93	0.93487	-0.0788	0.80580	T	0.359	0.72085	T	9	0.013238043	0.00327	T	0.037502	0.57658	D	0.620	0.85249	.	.	0.609617904835	0.60648	0.8886518496027869	0.88834	0.560045054504	0.52543	0.676551043987	0.63775	T	0.456132	0.81514	T	-0.0255131	0.48064	T	0.191254	0.82641	D	0.240474779046427	0.22441	T	0.981802	0.93846	D	0.876221	0.89359	0.7562106	0.85593	0.876221	0.89360	0.7562106	0.85594	-12.969	0.89235	D	.	.	0.811	0.80930	P	.;.;.;.;.;.	.;.;.;.;.;.	5.813787	0.93668	33	0.99910077620948867	0.97949	0.96369	0.68801	D	AEFBI	0.716616	0.66840	D	0.787719075141611	0.85331	8.544284	0.728956460164553	0.84577	8.331002	0.0189072500312813	0.13108	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	2.446000	0.44566	9.652000	0.81173	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.7381:0.2619	13.473	0.60743	196	0.92420	Alanyl-tRNA synthetase, class IIc, core domain;.;.;.;Alanyl-tRNA synthetase, class IIc, core domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1580.98	34	chr17	42955903	.	G	A	1580.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.00;DP=811;ExcessHet=0.0000;FS=2.443;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.75;ReadPosRankSum=-6.120e-01;SOR=0.579	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1387	20	0	1	0
chr17	42989528	42989528	A	G	exonic	RUNDC1	.	nonsynonymous SNV	RUNDC1:NM_173079:exon3:c.A845G:p.N282S	.	.	430	1086	6	0	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.0	B	0.001	B	0.002	N	0.962	D	0.605	N	2.29	T	-1.023	T	0.023	T	0.03	1.566	11.19	0.035	-0.136	1.053	8.963	0.060	0.00292174078804	.	.	0.0002	0	0	0	0	1.501e-05	0.0011	0.0012	0.0001488	23	154602	rs376014187	0.0001	0.0001	7.215e-05	0.0002	0.0017	0.0001	0.0001	0.0015	0.0014	0	2.236e-05	0	2.519e-05	0	0.0003	2.968e-05	0.0001	0.0017	3.939e-05	3.937e-05	1.285e-05	6.711e-05	0.0008	1.714e-05	1.129e-05	0.0003	0.0002	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0008	0.481	0.08212	T	0.326	0.18789	T	0.0	0.02946	B	0.001	0.04355	B	0.001902	0.37691	N	0.250265	0.962448	0.38291	D	0.405	0.12330	N	2.29	0.17113	T	-0.78	0.21644	N	0.154	0.15888	-1.0234	0.22606	T	0.023	0.09832	T	10	0.022537053	0.00565	T	0.002922	0.06192	T	0.060	0.17295	0.302	0.27003	0.242825505644	0.23883	0.10565790387283629	0.10495	0.32879486703	0.34991	0.322991669178	0.13875	T	0.02569	0.19158	T	-0.692193	0.00041	T	-0.797143	0.01975	T	0.0107169794697029	0.00151	T	0.721228	0.33447	T	0.020297097	0.00583	0.028562257	0.01103	0.020297097	0.00583	0.028562257	0.01103	-0.517	0.00594	T	.	.	0.045	0.00052	B	.	.	0.668837	0.10374	7.099	0.94994080317047302	0.25948	0.85511	0.44651	D	AEFDGBI	0.128931	0.24690	N	-0.507047499775556	0.21852	1.162686	-0.368218132075832	0.25950	1.430322	0.999943836966115	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.35	0.035	0.13504	1.050000	0.30014	-0.992000	0.06676	-0.536000	0.04945	1.000000	0.71638	0.000000	0.08366	0.986000	0.61781	0.6194:0.0:0.3806:0.0	8.963	0.35019	255	0.89985	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	719.98	33	chr17	42989528	.	A	G	719.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.410e-01;DP=755;ExcessHet=0.0000;FS=3.849;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.20;ReadPosRankSum=-8.810e-01;SOR=0.340	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1200	20	0	1	0
chr17	43013785	43013785	G	A	exonic	IFI35	.	nonsynonymous SNV	IFI35:NM_001330230:exon6:c.G572A:p.R191H	.	.	418	1059	42	3	0	48	0.0221607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.005	B	0.008	B	0.804	N	1.000	N	-0.14	N	0.85	T	-1.024	T	0.043	T	0.035	0.392	6.130	-1.77	-0.297	0.020	10.510	0.124	.	0.0070	0.00439297	0.0078	0.0010	0.0029	0.0002	0.0022	0.0105	0.0047	0.0106	0.0072315	1118	154602	rs146311145	0.0072	0.0072	0.0068	0.0075	0.0241	0.0070	0.0070	0.0209	0.0196	0.0009	0.0033	0.0500	0.0001	0.0031	0.0241	0.0063	0.0100	0.0119	0.0055	0.0055	0.0059	0.0051	0.0112	0.0052	0.0051	0.0088	0.0079	0.0010	0.0022	0.0033	0.0470	0	0.0017	0.0272	0.0071	0.0114	0.0112	0.474	0.11659	T	0.604	0.07842	T	0.005	0.12996	B	0.008	0.13708	B	0.804143	0.06787	N	1.087340	0.999974	0.18612	N	0.82	0.20857	L	0.85	0.47130	T	-1.65	0.42763	N	0.026	0.00770	-1.0243	0.22311	T	0.043	0.18326	T	10	0.0034869611	0.00062	T	.	.	.	0.124	0.34239	.	.	0.316198179892	0.31222	0.3796571607327325	0.37880	0.0828921084784	0.09354	0.216862440109	0.01137	T	0.006675	0.06097	T	-0.686016	0.00044	T	-0.750229	0.03477	T	0.00723688116875723	0.00083	T	0.684632	0.29288	T	0.030894008	0.02832	0.045393538	0.06098	0.030894008	0.02831	0.045393538	0.06098	-6.899	0.53292	T	.	.	0.071	0.04806	B	.;.	.;.	0.716264	0.10854	7.529	0.72552883588186612	0.10013	0.13481	0.17880	N	AEFDGBCI	0.066064	0.12918	N	-1.01362901966849	0.08320	0.3897128	-0.936659194844358	0.11234	0.5710384	0.998372640843774	0.36850	0.67177	0.52595	0	0.702456	0.74545	0	0.489635	0.07774	0	0.711	0.71501	0	.	.	5.22	-1.77	0.07551	-1.017000	0.03740	0.730000	0.21079	-0.106000	0.15538	0.000000	0.06391	0.001000	0.17328	0.241000	0.23027	0.5709:0.0:0.4291:0.0	10.510	0.44045	319	0.87030	Nmi/IFP 35 domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2605.11	60	chr17	43013785	.	G	A	2605.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.99;DP=1296;ExcessHet=0.1072;FS=8.109;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=1.45;SOR=1.181	GT:AD:DP:GQ:PL	0/0:63,0:63:99:0,120,1800	19	0	2	0
chr17	43021953	43021953	C	T	exonic	VAT1	.	nonsynonymous SNV	VAT1:NM_006373:exon1:c.G370A:p.G124R,	.	.	372	1142	8	0	0	8	0.0034904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.454	P	0.515	P	0.000	D	1.000	D	1.385	L	0.84	T	-0.759	T	0.173	T	0.319	4.902	28.2	3.84	1.966	6.701	15.528	0.228	.	.	0.00259585	0.0019	0.0001	0	0	0	1.698e-05	0.0039	0.0128	0.0014553	225	154602	rs377221508	0.0008	0.0008	0.0004	0.0011	0.0119	0.0007	0.0007	0.0113	0.0110	0	0	0	0.0001	0	0.0009	8.995e-06	0.0010	0.0119	0.0004	0.0004	0.0003	0.0006	0.0130	0.0004	0.0003	0.0105	0.0095	0	0	0.0001	0	0	0	0	0	0.0014	0.0130	0.026	0.46910	D	0.355	0.29540	T	0.454	0.36182	P	0.515	0.48040	P	0.000072	0.52346	D	0.168530	0.999559	0.81001	D	2.635	0.77114	M	0.84	0.47477	T	-3.06	0.63090	D	0.374	0.41557	-0.7591	0.57455	T	0.173	0.51595	T	10	0.010383159	0.00231	T	.	.	.	0.228	0.52768	0.808	0.92512	0.810640954071	0.80886	0.7867270252943331	0.78624	1.39135005619	0.85010	0.649019122124	0.59847	T	0.127768	0.45501	T	-0.399491	0.02333	T	-0.337222	0.40658	T	0.155232468014804	0.17512	T	0.973903	0.97165	D	0.5365815	0.69204	0.30586016	0.56612	0.5365815	0.69205	0.30586016	0.56611	-10.056	0.74246	D	.	.	0.492	0.66936	A	.;.	.;.	5.350841	0.89758	31	0.99793479443052047	0.87928	0.90065	0.50955	D	AEFDGBHCI	0.904877	0.85571	D	0.255777186668135	0.53924	3.559522	0.296689116216302	0.55345	3.697736	1.0	0.98316	0.733237	0.96898	0	0.748881	0.99253	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	3.84	3.84	0.43422	6.754000	0.74705	5.719000	0.49462	0.522000	0.23927	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:1.0:0.0:0.0	15.528	0.75659	348	0.85549	Alcohol dehydrogenase, N-terminal|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	916.98	35	chr17	43021953	.	C	T	916.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.63;DP=784;ExcessHet=0.0000;FS=6.183;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=0.281;SOR=1.454	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1152	20	0	1	0
chr17	43091492	43091492	T	C	exonic	BRCA1	.	nonsynonymous SNV	BRCA1:NM_007297:exon9:c.A3898G:p.R1300G	.	YES	0	1521	1	0	0	1	0.000328623	.	.	50260	Familial_cancer_of_breast|not_specified|not_provided|Hereditary_breast_ovarian_cancer_syndrome|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|Breast-ovarian_cancer,_familial,_susceptibility_to,_1	MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN221562|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.01	D	0.255	B	0.071	B	0.018	N	0.999	N	1.845	L	-2.25	D	-0.376	T	0.450	T	0.711	1.329	10.36	2.98	0.439	1.193	6.180	0.527	0.286124731888	0.0048	0.000599042	0.0040	0.0011	0.0012	0	0.0012	0.0064	0.0022	0.0011	0.0042108	651	154602	rs28897689	0.0060	0.0060	0.0062	0.0057	0.0072	0.0058	0.0058	0.0071	0.0070	0.0007	0.0017	0.0009	0	0.0025	0.0003	0.0072	0.0051	0.0010	0.0041	0.0041	0.0045	0.0036	0.0064	0.0038	0.0037	0.0059	0.0057	0.0016	0.0329	0.0031	0.0020	0	0.0018	0	0.0064	0.0028	0.0010	0.175	0.24372	T	0.358	0.57587	T	0.255	0.31319	B	0.071	0.27960	B	0.017996	0.27589	N	0.312698	1	0.21331	N	2.135	0.59519	M	-2.36	0.89071	D	-0.82	0.27876	N	0.358	0.53972	-0.3762	0.72770	T	0.450	0.78455	T	10	0.007952005	0.00181	T	0.286125	0.90402	D	0.527	0.80007	.	.	0.849029446195	0.84758	0.15429102817380136	0.15350	0.351719312492	0.37009	0.252207577229	0.04004	T	0.185094	0.53796	T	-0.150285	0.28267	T	0.0176056	0.71475	D	0.00815700555301208	0.00097	T	0.90161	0.67446	D	0.08395542	0.19409	0.078762874	0.17672	0.06657545	0.14336	0.088083625	0.20515	-3.011	0.10629	T	0.4744641287373242	0.55430	0.118	0.24226	B	.;.;.;.	.;.;.;.	2.263087	0.28918	17.95	0.99127449213642682	0.53169	0.64987	0.32587	D	AEFDBI	0.334199	0.43304	N	-0.344752951647033	0.27465	1.507092	-0.293686868165548	0.28305	1.577321	0.893887537960173	0.25916	0.651	0.46895	0	0.653731	0.59785	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.19	2.98	0.33575	1.192000	0.31759	0.577000	0.19666	0.665000	0.62972	0.992000	0.37556	0.672000	0.26072	0.779000	0.36868	0.0:0.0819:0.1624:0.7557	6.180	0.19678	520	0.74355	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1580.98	41	chr17	43091492	.	T	C	1580.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.253e+00;DP=1251;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.24;ReadPosRankSum=1.69;SOR=0.629	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1312	20	0	1	0
chr17	43209576	43209576	C	T	exonic	NBR1	.	nonsynonymous SNV	NBR1:NM_001291571:exon21:c.C2747T:p.S916L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	.	.	1.000	N	.	.	.	.	-1.001	T	0.077	T	.	0.422	6.290	0.668	0.179	-0.690	6.907	0.099	0.00247799293091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.892e-06	2.736e-06	0	5.862e-06	5.049e-05	6.8e-07	4.6e-07	1.678e-05	9.94e-06	0	0	0	0	0	0	0	0	5.049e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	0.89	0.45636	T	.	.	.	0.231	0.25989	-1.0011	0.29602	T	0.077	0.30828	T	7	0.083803385	0.13980	T	0.002478	0.04925	T	.	.	0.34	0.33141	0.177238962908	0.17366	.	.	.	.	.	.	.	.	.	.	-0.208605	0.19577	T	-0.537423	0.18551	T	0.0225476848085301	0.00970	T	0.474053	0.14146	T	.	.	.	.	.	.	.	.	-2.953	0.09684	T	.	.	0.104	0.18705	B	.	.	0.197311	0.05827	2.267	0.68196843098406135	0.08585	0.03259	0.08291	N	AEFBI	0.040444	0.06017	N	-0.901074322236357	0.10816	0.5188141	-0.995857017767948	0.09878	0.4940473	4.44860287574638E-4	0.07004	0.475973	0.10046	0	0.601575	0.49859	0	0.463624	0.06942	0	0.221012	0.04332	2	.	.	3.12	0.668	0.17081	-0.683000	0.05280	-0.427000	0.09246	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.146000	0.20164	0.0:0.7932:0.0:0.2068	6.907	0.23497	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.375	945.77	54	chr17	43209576	.	C	T,G	945.77	.	AC=4,2;AF=0.250,0.125;AN=16;BaseQRankSum=-2.204e+00;DP=843;ExcessHet=1.7912;FS=369.161;InbreedingCoeff=-0.4233;MLEAC=7,3;MLEAF=0.438,0.188;MQ=60.00;MQRankSum=0.00;QD=2.89;ReadPosRankSum=0.771;SOR=8.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,14,0:59:99:0|1:43209576_C_T:201,0,1317,336,1358,1694:43209576	2	0	4	13
chr17	43209576	43209576	C	G	exonic	NBR1	.	stopgain	NBR1:NM_001291571:exon21:c.C2747G:p.S916X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	0.966	N	.	.	.	.	.	.	.	.	.	0.298	5.615	0.668	0.179	-0.690	6.907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.983113	0.39974	D	.	.	.	.	.	.	.	.	.	0.119	0.10911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.411962	0.01929	T	-0.829532	0.01270	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115114	0.05136	1.662	0.67607967295508664	0.08405	0.08425	0.14356	N	AEFBI	0.032893	0.03801	N	-0.577608091250192	0.19625	1.028636	-0.768591458878559	0.15266	0.8020448	4.44860287574638E-4	0.07004	0.475973	0.10046	0	0.601575	0.49859	0	0.463624	0.06942	0	0.221012	0.04332	2	.	.	3.12	0.668	0.17081	-0.683000	0.05280	-0.427000	0.09246	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.146000	0.20164	0.0:0.7932:0.0:0.2068	6.907	0.23497	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.375	945.77	54	chr17	43209576	.	C	T,G	945.77	.	AC=4,2;AF=0.250,0.125;AN=16;BaseQRankSum=-2.204e+00;DP=843;ExcessHet=1.7912;FS=369.161;InbreedingCoeff=-0.4233;MLEAC=7,3;MLEAF=0.438,0.188;MQ=60.00;MQRankSum=0.00;QD=2.89;ReadPosRankSum=0.771;SOR=8.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,14,0:59:99:0|1:43209576_C_T:201,0,1317,336,1358,1694:43209576	2	0	4	13
chr17	43857823	43857823	C	T	exonic	CD300LG	.	nonsynonymous SNV	CD300LG:NM_001168323:exon6:c.C817T:p.L273F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.023	B	0.018	B	.	.	1.000	N	0	N	3.5	T	-0.953	T	0.011	T	0.066	0.925	8.767	0.061	0.069	0.081	2.545	0.020	0.00148416228816	.	.	0.0006	0	0	0	0	0	0	0.0013	6.47e-05	10	154602	rs767649570	9.242e-05	8.756e-05	4.704e-05	0.0001	0.0015	7.903e-05	7.425e-05	0.0013	0.0012	0	0	0	0	0	0	0	0.0002	0.0015	5.908e-05	5.905e-05	2.569e-05	9.397e-05	0.0019	3.075e-05	2.208e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	0.031	0.53172	D	0.07	0.46632	T	0.006	0.13644	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	.	.	.	3.5	0.07920	T	-1.19	0.30346	N	0.091	0.09631	-0.9530	0.40450	T	0.011	0.03996	T	9	0.011503816	0.00251	T	0.001484	0.02267	T	0.020	0.03691	0.322	0.30226	0.0401082797425	0.02173	.	.	.	.	.	.	.	.	.	.	-0.667446	0.00057	T	-0.772049	0.02702	T	0.0098645069697506	0.00130	T	0.449255	0.13535	T	.	.	.	.	.	.	.	.	-4.273	0.28008	T	.	.	0.077	0.10787	B	.;.;.	.;.;.	1.021546	0.14010	10.58	0.90949191079251013	0.20198	0.00457	0.02207	N	AEFBI	0.024221	0.01464	N	-1.29716280451271	0.03710	0.1662026	-1.31941037517095	0.04179	0.1965912	2.78558152294966E-4	0.06300	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.21	0.061	0.13653	0.083000	0.14718	0.771000	0.21396	0.454000	0.21428	0.001000	0.13787	0.987000	0.30940	0.166000	0.20848	0.2321:0.499:0.0:0.2688	2.545	0.04446	640	0.64132	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1053.98	36	chr17	43857823	.	C	T	1053.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.244;DP=860;ExcessHet=0.0000;FS=1.516;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.25;ReadPosRankSum=0.309;SOR=0.743	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr17	43904456	43904456	G	A	exonic	MPP2	.	nonsynonymous SNV	MPP2:NM_001278370:exon2:c.C140T:p.P47L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.273	B	0.011	B	.	.	1.000	D	0.55	N	3.09	T	-1.014	T	0.081	T	0.742	3.063	16.22	4.9	2.539	4.597	13.438	0.173	0.0364556557318	.	.	8.242e-05	0	0.0002	0	0	7.495e-05	0	0.0002	6.47e-05	10	154602	rs146765164	3.284e-05	3.283e-05	2.178e-05	4.401e-05	0.0002	2.543e-05	2.249e-05	0.0001	0.0001	0	0.0002	0	0	0	0	1.709e-05	6.624e-05	0.0002	3.286e-05	3.283e-05	3.854e-05	2.691e-05	0.0006	1.261e-05	7.98e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0006	0.004	0.68238	D	0.01	0.72224	D	.	.	.	.	.	.	.	.	.	.	0.999942	0.81001	D	.	.	.	3.09	0.51952	T	-1.66	0.98311	N	0.748	0.76573	-1.0142	0.25593	T	0.081	0.32119	T	9	0.26201212	0.43665	T	0.036456	0.57003	D	0.173	0.43840	0.375	0.38830	0.706878895572	0.70432	0.14979602481463292	0.14901	0.637688771769	0.57507	0.812275230885	0.83840	D	0.027058	0.23185	T	-0.12219	0.32768	T	-0.117102	0.62039	T	0.0536729954183102	0.06134	T	0.869813	0.58094	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.602	0.74270	P	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	4.520951	0.70884	25.6	0.99492256118151001	0.67516	0.96884	0.71464	D	AEFBI	0.665610	0.63436	D	0.0200849375284677	0.42770	2.583232	0.187403856240246	0.49154	3.122231	0.999978903740579	0.50053	0.653281	0.48532	0	0.563428	0.19063	0	0.675528	0.61593	0	0.530356	0.10902	0	.	.	4.9	4.9	0.63643	4.830000	0.62434	11.591000	0.93406	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:0.0:1.0:0.0	13.438	0.60545	596	0.68392	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1439.98	35	chr17	43904456	.	G	A	1439.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.78;DP=825;ExcessHet=0.0000;FS=2.497;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.33;ReadPosRankSum=-4.900e-02;SOR=0.454	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1326	20	0	1	0
chr17	44075448	44075448	C	G	exonic	G6PC3	.	nonsynonymous SNV	G6PC3:NM_001319945:exon4:c.C555G:p.F185L	Dursun syndrome, Autosomal recessive;Neutropenia, severe congenital 4, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	646077	Autosomal_recessive_severe_congenital_neutropenia_due_to_G6PC3_deficiency|not_provided	MONDO:MONDO:0012930,MedGen:C2751630,OMIM:612541,Orphanet:331176|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.998	D	0.87	P	0.000	D	1.000	D	1.385	L	-1.19	T	-0.160	T	0.468	T	0.621	3.769	19.14	5.4	2.818	0.967	12.253	0.392	0.138668397353	.	.	5.766e-05	0	8.637e-05	0	0	0	0.0022	0.0002	4.53e-05	7	154602	rs748442084	2.052e-05	2.052e-05	8.167e-06	3.3e-05	0.0003	1.456e-05	1.264e-05	0.0002	0.0002	0	0	0	0	0	0.0002	0	1.656e-05	0.0003	1.313e-05	1.312e-05	0	2.685e-05	0.0004	2.18e-06	8.2e-07	7.29e-05	3.029e-05	0	0	0	0	0	0	0	0	0	0.0004	0.092	0.31682	T	0.089	0.41742	T	0.998	0.73220	D	0.87	0.61806	P	0.000016	0.62929	D	0.116963	0.999553	0.47544	D	1.24	0.30952	L	-1.19	0.78427	T	-1.68	0.40082	N	0.468	0.50418	-0.1600	0.78671	T	0.468	0.79503	T	10	0.4047981	0.55817	T	0.138668	0.82116	D	0.392	0.70764	0.472	0.54699	0.818344994045	0.81663	0.4343471302665221	0.43351	0.870047324024	0.69367	0.548586666584	0.45658	T	0.455172	0.79443	T	-0.143806	0.29286	T	-0.152195	0.59048	T	0.593245267868042	0.36134	D	0.729427	0.46271	T	0.123832405	0.29069	0.08757043	0.20363	0.123832405	0.29069	0.08757043	0.20362	-10.784	0.78460	D	0.6271685244747202	0.69615	0.243	0.52696	B	.;.	.;.	4.488142	0.70083	25.5	0.98869831370796768	0.47632	0.38728	0.26054	N	AEFGBCI	0.235429	0.35803	N	0.3756152218726	0.60102	4.195729	0.352009135359422	0.58628	4.034538	0.99998680396493	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	0.945000	0.28654	7.727000	0.67598	0.599000	0.40250	0.004000	0.16614	1.000000	0.68203	0.990000	0.65344	0.0:0.8295:0.1705:0.0	12.253	0.53923	606	0.67383	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2033.98	34	chr17	44075448	.	C	G	2033.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.974;DP=896;ExcessHet=0.0000;FS=1.228;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=-2.830e-01;SOR=0.811	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr17	44086718	44086718	G	A	exonic	HDAC5	.	nonsynonymous SNV	HDAC5:NM_001015053:exon14:c.C1907T:p.P636L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.456	P	0.04	B	0.176	N	0.963	D	0.205	N	0.92	T	-1.053	T	0.044	T	0.295	0.242	5.306	0.988	0.197	1.245	12.676	0.030	0.00847327940369	0.0005	0.000998403	0.0003	0.0033	0	0	0	3.321e-05	0	0	0.0001746	27	154602	rs141368443	6.109e-05	5.062e-05	6.845e-05	5.303e-05	0.0023	4.924e-05	4.515e-05	0.0019	0.0017	0.0023	6.944e-05	0	0	0	0.0002	7.382e-06	6.548e-05	0	0.0005	0.0005	0.0006	0.0005	0.0019	0.0004	0.0004	0.0016	0.0015	0.0019	0	6.533e-05	0	0	0	0	0	0	0	0.348	0.21385	T	0.545	0.09588	T	0.07	0.36269	B	0.025	0.23831	B	0.175917	0.17239	N	0.512841	0.96341	0.38347	D	0.895	0.22405	L	0.91	0.44856	T	-0.51	0.31576	N	0.249	0.29429	-1.0528	0.13628	T	0.044	0.18906	T	10	0.0079731345	0.00181	T	0.008473	0.22407	T	0.030	0.07022	.	.	0.429154209284	0.42533	0.18779775902854495	0.18697	0.338984260015	0.35858	0.463661968708	0.33812	T	0.266787	0.63877	T	-0.494332	0.00615	T	-0.489634	0.23429	T	0.030714444136468	0.02100	T	0.940106	0.77361	D	0.026938604	0.01817	0.028314546	0.01056	0.026938604	0.01816	0.028314546	0.01056	-3.458	0.23098	T	.	.	0.069	0.04316	B	.;.;.	.;.;.	2.317796	0.29679	18.20	0.8183302525048971	0.13883	0.62825	0.31900	D	AEFDBHCIJ	0.454594	0.50723	N	-0.75877060846201	0.14396	0.7167739	-0.591351181378381	0.19717	1.05917	0.99999992037849	0.74766	0.730579	0.87903	0	0.702456	0.74545	0	0.749866	0.98131	0	0.662433	0.64102	0	.	.	4.79	0.988	0.18914	1.023000	0.29668	1.905000	0.29608	-0.832000	0.02862	1.000000	0.71638	1.000000	0.68203	0.036000	0.13842	0.0:0.0:0.5701:0.4299	12.676	0.56258	599	0.68140	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	471.98	33	chr17	44086718	.	G	A	471.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.824;DP=694;ExcessHet=0.0000;FS=6.735;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=0.667;SOR=0.177	GT:AD:DP:GQ:PL	0/1:26,19:45:99:486,0,721	20	0	1	0
chr17	44350237	44350237	C	A	exonic	GRN	.	nonsynonymous SNV	GRN:NM_002087:exon5:c.C359A:p.S120Y,	Aphasia, primary progressive, Autosomal dominant;Ceroid lipofuscinosis, neuronal, 11, Autosomal recessive;Frontotemporal lobar degeneration with ubiquitin-positive inclusions, Autosomal dominant	.	0	1499	22	1	0	24	0.00794176	.	.	104027	not_provided|GRN-related_frontotemporal_lobar_degeneration_with_Tdp43_inclusions|Inborn_genetic_diseases|Neuronal_ceroid_lipofuscinosis_11	MedGen:C3661900|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485,Orphanet:100070,Orphanet:282|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706,Orphanet:314629,Orphanet:79262	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.04	D	0.744	P	0.252	B	0.021	N	1.000	N	1.83	L	-0.48	T	-0.769	T	0.277	T	0.27	1.691	11.61	-1.23	-0.106	-0.927	7.481	0.020	0.10250206622	0.0002	.	0.0008	0	0.0009	0	0	0.0005	0.0044	0.0033	0.0006921	107	154602	rs63750043	0.0007	0.0007	0.0005	0.0008	0.0141	0.0006	0.0006	0.0116	0.0107	0.0004	0.0016	0.0021	2.52e-05	9.362e-05	0.0141	0.0003	0.0014	0.0033	0.0008	0.0008	0.0007	0.0008	0.0031	0.0006	0.0006	0.0024	0.0022	7.223e-05	0	0.0031	0.0023	0	0	0.0204	0.0006	0.0009	0.0015	0.156	0.24090	T	0.113	0.46862	T	0.744	0.43069	P	0.252	0.39069	B	0.021054	0.01544	N	2.551290	1	0.08975	N	1.975	0.53506	M	-0.48	0.73417	T	-1.17	0.29933	N	0.293	0.35194	-0.7693	0.56896	T	0.277	0.64865	T	10	0.0062176883	0.00140	T	0.102502	0.77600	D	0.145	0.38592	.	.	0.857881563427	0.85651	0.2792761382427879	0.27840	0.463953477707	0.45884	0.249592423439	0.03724	T	0.206937	0.56642	T	-0.424986	0.01590	T	-0.385975	0.35022	T	0.00771268445903143	0.00090	T	0.726827	0.34608	T	0.051580228	0.09493	0.05380251	0.09132	0.03801147	0.04983	0.052819293	0.08778	-7.322	0.57413	T	.	.	0.101	0.28948	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	0.174937	0.05632	2.085	0.83523310676695262	0.14773	0.05622	0.11530	N	AEFDBI	0.596953	0.59092	D	-0.652651513790647	0.17383	0.8940387	-0.841620105932744	0.13489	0.7000154	0.999659791961204	0.41424	0.706298	0.61202	0	0.696144	0.67643	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.07	-1.23	0.08977	-0.172000	0.09858	-0.917000	0.06933	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.5202:0.0:0.4798	7.481	0.26577	501	0.75956	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1711.98	74	chr17	44350237	.	C	A	1711.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.720;DP=1325;ExcessHet=0.0000;FS=0.595;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.44;ReadPosRankSum=-5.670e-01;SOR=0.604	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr17	44353825	44353825	G	C	exonic	FAM171A2	.	nonsynonymous SNV	FAM171A2:NM_198475:exon8:c.C2389G:p.L797V,	.	.	.	.	.	.	.	.	.	.	.	3260014	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.56	T	0.494	P	0.182	B	0.120	U	1.000	N	1.245	L	1.47	T	-1.059	T	0.055	T	0.058	1.100	9.489	3.36	0.814	0.483	11.055	0.073	0.217233787327	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1452193327	5.742e-05	5.336e-05	5.745e-05	5.739e-05	7.15e-05	4.667e-05	4.293e-05	5.81e-05	5.344e-05	0	0	0	0	0	0	7.15e-05	0	0	1.987e-05	1.971e-05	2.591e-05	1.355e-05	4.443e-05	5.28e-06	2.47e-06	1.18e-05	6.27e-06	0	0	0	0	0	0	0	4.443e-05	0	0	0.634	0.05091	T	0.406	0.14725	T	0.494	0.37037	P	0.182	0.35926	B	0.120303	0.19040	U	0.347083	0.999999	0.08975	N	1.735	0.44892	L	1.47	0.31987	T	-0.32	0.12283	N	0.061	0.03283	-1.0592	0.11956	T	0.055	0.23072	T	10	0.074153125	0.11297	T	0.217234	0.87598	D	0.073	0.21317	0.493	0.58048	0.0138822411134	0.00435	0.037629819886161466	0.03708	.	.	0.847066164017	0.89171	D	0.002462	0.01855	T	-0.30064	0.08600	T	-0.669625	0.07632	T	0.244010731577873	0.22602	T	0.50435	0.15896	T	0.07523495	0.16936	0.0526414	0.08714	0.07523495	0.16935	0.0526414	0.08714	-4.065	0.24772	T	.	.	0.090	0.12702	B	.	.	2.188074	0.27896	17.62	0.93205997567186827	0.22877	0.09746	0.15432	N	AEFDBCIJ	0.176349	0.30355	N	-0.631185679634715	0.18012	0.9317564	-0.600037786882085	0.19491	1.046032	0.999999992079075	0.74766	0.72623	0.87236	0	0.519925	0.08708	0	0.594344	0.31042	0	0.508809	0.08732	0	.	.	4.33	3.36	0.37579	0.684000	0.25043	4.817000	0.45088	-0.246000	0.07238	0.055000	0.21596	1.000000	0.68203	0.932000	0.46971	0.0949:0.0:0.9051:0.0	11.055	0.47127	501	0.75956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	464.98	40	chr17	44353825	.	G	C	464.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.010e-01;DP=733;ExcessHet=0.0000;FS=4.442;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=0.908;SOR=0.450	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,954	20	0	1	0
chr17	44399163	44399163	G	A	exonic	GPATCH8	.	nonsynonymous SNV	GPATCH8:NM_001304943:exon5:c.C2680T:p.R894W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.952	D	0.000	D	1.000	D	0.805	L	2.62	T	-1.094	T	0.050	T	0.484	1.814	12.03	1.89	0.269	1.477	11.185	0.140	0.0129805307449	.	.	1.653e-05	0	0	0	0.0002	1.504e-05	0	0	1.29e-05	2	154602	rs772340447	3.294e-05	3.284e-05	3.143e-05	3.447e-05	0.0002	2.552e-05	2.256e-05	2.838e-05	2.516e-05	0	0	0	0	0	0.0002	3.791e-05	8.3e-05	0	1.318e-05	1.315e-05	1.287e-05	1.35e-05	2.943e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.943e-05	0	0	.	.	.	0.077	0.42436	T	1.0	0.90584	D	0.952	0.69102	D	0.000002	0.62929	D	0.000000	0.897818	0.36099	D	0.695	0.17993	N	2.62	0.12988	T	.	.	.	0.404	0.44474	-1.0940	0.04899	T	0.050	0.21261	T	10	0.19661978	0.35561	T	0.012981	0.32017	T	.	.	0.247	0.18293	0.305926609036	0.30200	0.3303272358589585	0.32945	0.14612908303	0.16499	0.728993475437	0.71359	T	0.079319	0.36100	T	-0.191743	0.22002	T	-0.449556	0.27747	T	0.348744281710107	0.26970	T	0.930207	0.74183	D	0.26363334	0.49429	0.23828442	0.49147	0.26363334	0.49429	0.23828442	0.49145	-7.523	0.57772	D	.	.	0.423	0.60852	A	.	.	4.206097	0.63511	24.6	0.99483638883201875	0.67014	0.68937	0.33992	D	AEFDGBCI	0.226725	0.35063	N	0.223764744705984	0.52354	3.409977	0.193737552085795	0.49503	3.152703	0.00929832784848345	0.11830	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	5.13	1.89	0.24700	1.269000	0.32677	5.058000	0.47060	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.0:0.1069:0.3326:0.5604	11.185	0.47875	511	0.75131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2427.98	35	chr17	44399163	.	G	A	2427.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=1257;ExcessHet=0.0000;FS=5.070;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.52;ReadPosRankSum=-5.280e-01;SOR=0.421	GT:AD:DP:GQ:PL	0/1:98,96:194:99:2442,0,2368	20	0	1	0
chr17	44399285	44399285	G	T	exonic	GPATCH8	.	nonsynonymous SNV	GPATCH8:NM_001304943:exon5:c.C2558A:p.S853Y	.	.	422	1096	4	0	0	4	0.00182149	.	.	2384833	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.52	T	1.0	D	0.997	D	0.000	D	1.000	D	0.895	L	2.24	T	-1.121	T	0.074	T	0.415	2.530	14.42	5.2	2.712	8.964	18.529	0.175	0.0132942397881	.	.	6.59e-05	0	0.0002	0.0001	0	7.492e-05	0	0	5.82e-05	9	154602	rs769916673	0.0001	0.0001	0.0002	0.0001	0.0004	0.0001	0.0001	0.0002	0.0002	0	0.0004	0	5.04e-05	0	0.0003	0.0002	0.0002	5.797e-05	0.0001	0.0001	0.0001	0.0001	0.0007	9.148e-05	7.704e-05	0.0004	0.0003	0.0002	0	0.0007	0	0	0	0	5.88e-05	0	0	.	.	.	0.361	0.16914	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	0.895	0.22405	L	2.24	0.17923	T	.	.	.	0.545	0.57177	-1.1208	0.02282	T	0.074	0.29960	T	10	0.30187577	0.47727	T	0.013294	0.32578	T	.	.	.	.	0.196089822672	0.19227	0.48287026531522875	0.48207	0.182516927808	0.20511	0.770769417286	0.77541	T	0.031656	0.22138	T	-0.324455	0.06540	T	-0.375873	0.36204	T	0.118316092778163	0.14264	T	0.845715	0.52486	T	0.1874165	0.40195	0.24053971	0.49430	0.1874165	0.40195	0.24053971	0.49429	-7.83	0.59906	D	.	.	0.401	0.59606	A	.	.	3.425556	0.47581	22.5	0.96334878423215153	0.29460	0.98432	0.82716	D	AEFDGBCI	0.858202	0.77568	D	0.593819984953509	0.72786	5.86115	0.628903181532153	0.77049	6.604984	0.999999999030967	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	8.913000	0.92296	9.975000	0.82886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.909000	0.44452	0.0:0.0:1.0:0.0	18.529	0.90936	511	0.75131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4154.98	35	chr17	44399285	.	G	T	4154.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.108e+00;DP=1270;ExcessHet=0.0000;FS=8.060;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.17;ReadPosRankSum=-1.595e+00;SOR=1.127	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:94,0:94:99:.:.:0,120,1800	20	0	1	0
chr17	44399286	44399286	A	C	exonic	GPATCH8	.	nonsynonymous SNV	GPATCH8:NM_001304943:exon5:c.T2557G:p.S853A	.	.	422	1096	4	0	0	4	0.00182149	.	.	2384832	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.55	T	0.994	D	0.978	D	0.000	D	1.000	D	0.895	L	2.3	T	-1.104	T	0.067	T	0.384	2.383	13.93	5.2	2.190	8.480	14.896	0.193	0.0113018479743	.	.	5.766e-05	0	0.0002	0.0001	0	5.993e-05	0	0	4.53e-05	7	154602	rs775499902	0.0001	0.0001	0.0001	0.0001	0.0004	0.0001	0.0001	0.0002	0.0002	0	0.0004	0	5.039e-05	0	0.0003	0.0001	9.936e-05	3.478e-05	0.0001	0.0001	0.0001	0.0001	0.0007	9.152e-05	7.707e-05	0.0004	0.0003	0.0002	0	0.0007	0	0	0	0	5.881e-05	0	0	.	.	.	0.315	0.19421	T	0.994	0.66517	D	0.978	0.74104	D	0.000000	0.84330	D	0.000000	0.999684	0.48270	D	0.895	0.22405	L	2.31	0.16794	T	.	.	.	0.402	0.44283	-1.1044	0.03598	T	0.067	0.27502	T	10	0.17827883	0.32905	T	0.011302	0.28784	T	.	.	.	.	0.317526407968	0.31361	0.3482024930364699	0.34734	0.116023652357	0.13085	0.708764433861	0.68415	T	0.029253	0.21004	T	-0.337626	0.05555	T	-0.394792	0.33991	T	0.167987549545225	0.18443	T	0.639136	0.25234	T	0.15062582	0.34281	0.1378453	0.32937	0.15062582	0.34281	0.1378453	0.32936	-9.605	0.71510	D	.	.	0.138	0.30264	B	.	.	3.717720	0.53105	23.3	0.98555614829814797	0.42909	0.98343	0.81823	D	AEFDGBCI	0.768567	0.70409	D	0.505346577544509	0.67405	5.07732	0.539482545541705	0.70668	5.539291	0.999999291197819	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	8.324000	0.89919	9.384000	0.80535	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.910000	0.44547	1.0:0.0:0.0:0.0	14.896	0.70286	511	0.75131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4154.98	35	chr17	44399286	.	A	C	4154.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.080e-01;DP=1272;ExcessHet=0.0000;FS=8.060;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.17;ReadPosRankSum=-1.416e+00;SOR=1.127	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:94,0:94:99:.:.:0,120,1800	20	0	1	0
chr17	44399973	44399973	C	A	exonic	GPATCH8	.	nonsynonymous SNV	GPATCH8:NM_001304943:exon5:c.G1870T:p.A624S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.044	B	0.014	B	0.149	N	1.000	N	0.345	N	4.34	T	-0.909	T	0.006	T	0.146	-0.588	1.363	1.89	0.733	0.310	10.951	0.010	0.0115334771582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.782	0.04302	T	0.044	0.21686	B	0.014	0.16862	B	0.149291	0.18022	N	0.621093	1	0.08975	N	0.345	0.11182	N	2.75	0.11622	T	.	.	.	0.106	0.09066	-0.9088	0.47001	T	0.006	0.01907	T	10	0.040855944	0.02690	T	0.011533	0.29247	T	.	.	0.246	0.18139	0.082315109003	0.07666	0.06779905791251553	0.06717	0.179806875035	0.20224	0.317229568958	0.13001	T	0.014093	0.12064	T	-0.296674	0.08977	T	-0.663928	0.08003	T	0.0210196919922205	0.00803	T	0.719828	0.33277	T	0.037167974	0.04714	0.053382456	0.08982	0.037167974	0.04713	0.053382456	0.08982	-2.425	0.05288	T	.	.	0.081	0.08368	B	.	.	1.518715	0.19502	14.29	0.68171566178604404	0.08577	0.33947	0.24951	N	AEFBCI	0.167206	0.29385	N	-0.905066518599619	0.10722	0.5137984	-0.836451028035589	0.13614	0.7071725	0.110125046787869	0.16624	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.21	1.89	0.24700	0.168000	0.16438	0.833000	0.21967	0.599000	0.40250	0.002000	0.15269	0.980000	0.30356	0.033000	0.13494	0.0:0.6906:0.0:0.3094	10.951	0.46542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2826.98	35	chr17	44399973	.	C	A	2826.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.700e-01;DP=1129;ExcessHet=0.0000;FS=1.488;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.83;ReadPosRankSum=0.147;SOR=0.693	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr17	44401155	44401155	C	T	exonic	GPATCH8	.	nonsynonymous SNV	GPATCH8:NM_001304943:exon5:c.G688A:p.A230T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.012	B	0.012	B	0.000	D	1.000	D	1.1	L	2.18	T	-1.082	T	0.027	T	0.189	2.465	14.20	4.67	2.654	3.948	9.822	0.028	0.00489794684121	0.0026	0.00159744	0.0007	0.0074	0	0	0	7.492e-05	0	0	0.0006339	98	154602	rs150608601	0.0002	0.0002	0.0003	0.0002	0.0082	0.0002	0.0002	0.0074	0.0071	0.0082	0.0004	0	0	0	0.0003	1.709e-05	0.0005	0	0.0022	0.0023	0.0023	0.0022	0.0077	0.0021	0.0020	0.0070	0.0067	0.0077	0	0.0009	0	0	0	0	4.411e-05	0.0033	0	.	.	.	0.082	0.41573	T	0.012	0.16265	B	0.012	0.16012	B	0.000013	0.62929	D	0.113820	0.980719	0.39696	D	1.545	0.39105	L	2.19	0.18724	T	.	.	.	0.138	0.13626	-1.0819	0.06984	T	0.027	0.11529	T	10	0.0056661367	0.00126	T	0.004898	0.12318	T	.	.	.	.	0.043077524339	0.03247	0.2662746842694272	0.26540	0.315036589402	0.33781	0.651984333992	0.60267	T	0.067955	0.33333	T	-0.541823	0.00327	T	-0.547342	0.17582	T	0.0289849726984402	0.01834	T	0.855914	0.54393	D	0.08532932	0.19789	0.09984055	0.23852	0.08532932	0.19789	0.09984055	0.23851	-5.652	0.43264	T	.	.	0.104	0.18910	B	.	.	2.618472	0.34026	19.51	0.9915436644178065	0.53903	0.92337	0.55479	D	AEFBI	0.213060	0.33868	N	-0.0579517787763278	0.39248	2.311433	0.141625974134826	0.46701	2.911785	0.348950636886998	0.19662	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	4.67	0.58089	4.013000	0.56850	3.326000	0.37586	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.7931:0.0:0.2069	9.822	0.40060	511	0.75131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1981.98	35	chr17	44401155	.	C	T	1981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.437e+00;DP=983;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.31;ReadPosRankSum=-8.100e-02;SOR=0.715	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr17	44666887	44666887	T	G	exonic	MEIOC	.	nonsynonymous SNV	MEIOC:NM_001145080:exon5:c.T976G:p.C326G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.002	B	0.003	B	0.000	D	0.791	N	0.69	N	1.46	T	-1.038	T	0.041	T	0.425	-1.504	0.017	5.63	2.269	1.107	6.325	0.123	0.00871899585484	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1254837875	2.745e-06	2.736e-06	1.365e-06	4.14e-06	3.605e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.605e-06	0	0	6.57e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.502	0.07695	T	0.459	0.92824	T	0.002	0.09854	B	0.003	0.08700	B	0.000094	0.51296	D	0.138961	0.790911	0.29227	N	.	.	.	1.44	0.32958	T	-0.67	0.64363	N	0.239	0.26957	-1.0382	0.17863	T	0.041	0.17742	T	10	0.15845457	0.29796	T	0.008719	0.23025	T	0.123	0.34020	0.586	0.71371	0.043077524339	0.03247	0.107262862855397	0.10655	0.0539382263776	0.05956	.	.	.	0.001237	0.22682	T	-0.145455	0.29025	T	-0.446712	0.28060	T	0.516781806945801	0.33246	D	0.580842	0.21027	T	0.118249044	0.27864	0.16289495	0.37815	0.118249044	0.27864	0.16289495	0.37814	-2.222	0.04404	T	.	.	0.091	0.25396	B	.;.;.	.;.;.	2.138624	0.27230	17.39	0.53195201205151255	0.04892	0.70487	0.34611	D	AEBI	0.179390	0.30668	N	-0.257421756178095	0.30808	1.72133	-0.0317061680279289	0.38291	2.25387	6.73398637039205E-4	0.07599	0.549168	0.22868	0	0.588015	0.36545	0	0.618467	0.43123	0	0.616125	0.45549	0	.	.	5.63	5.63	0.86108	1.096000	0.30587	7.941000	0.75483	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.2319:0.0:0.2002:0.5678	6.325	0.20447	519	0.74455	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1388.98	37	chr17	44666887	.	T	G	1388.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=890;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.20;ReadPosRankSum=1.00;SOR=0.645	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1125	20	0	1	0
chr17	44777504	44777504	C	T	exonic	ADAM11	.	nonsynonymous SNV	ADAM11:NM_001318933:exon22:c.C1204T:p.L402F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.953	P	0.663	P	0.023	N	1.000	D	0.96	L	1.92	T	-0.798	T	0.207	T	0.2	3.340	17.24	4.8	2.374	2.437	17.011	0.074	0.0120414277446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.134	0.34241	T	0.606	0.54283	P	0.34	0.52893	B	0.022637	0.26596	N	0.343082	0.999768	0.52935	D	0.355	0.11969	N	1.92	0.23082	T	-3.35	0.66436	D	0.362	0.40364	-0.7983	0.55244	T	0.207	0.56581	T	10	0.4695472	0.59778	T	0.012041	0.30251	T	0.088	0.25558	0.651	0.78858	0.352048277211	0.34822	0.5285470239376108	0.52778	0.772656149839	0.64854	0.727210462093	0.71099	T	0.30835	0.68044	T	-0.211179	0.19213	T	-0.54112	0.18187	T	0.773679375648499	0.44661	D	0.950905	0.81262	D	0.25138253	0.48146	0.30323684	0.56355	0.25138253	0.48146	0.30323684	0.56354	-9.696	0.72072	D	.	.	0.172	0.40328	B	.;.	.;.	3.161526	0.42834	21.6	0.99877934818487613	0.95491	0.91659	0.53991	D	AEFDBI	0.221892	0.34646	N	0.160705686996613	0.49320	3.133732	0.234306530360189	0.51762	3.355902	0.999972934880998	0.50053	0.609539	0.35627	0	0.588764	0.42986	0	0.493711	0.08198	1	0.567892	0.33627	0	.	.	4.8	4.8	0.61157	2.201000	0.42368	4.798000	0.44948	0.599000	0.40250	0.967000	0.34061	1.000000	0.68203	0.926000	0.46234	0.0:1.0:0.0:0.0	17.011	0.86280	448	0.79501	ADAM, cysteine-rich|ADAM, cysteine-rich;ADAM, cysteine-rich|ADAM, cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1375.98	56	chr17	44777504	.	C	T	1375.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.972;DP=1221;ExcessHet=0.0000;FS=5.819;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=-7.250e-01;SOR=0.887	GT:AD:DP:GQ:PL	0/0:71,0:71:99:0,120,1800	20	0	1	0
chr17	44804841	44804841	C	A	exonic	GJC1	.	nonsynonymous SNV	GJC1:NM_001080383:exon3:c.G977T:p.S326I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.103	B	0.043	B	0.004	N	1.000	D	1.445	L	-4.7	D	0.653	D	0.848	D	0.728	2.094	12.96	4.51	1.309	5.499	13.539	0.579	0.0759772132842	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.35726	T	0.005	0.72224	D	0.103	0.25884	B	0.043	0.24256	B	0.004134	0.34080	N	0.343587	0.999996	0.58761	D	1.655	0.42436	L	-4.06	0.98020	D	-2.34	0.51811	N	0.448	0.56833	0.653	0.92582	D	0.848	0.94919	D	10	0.47751456	0.60232	T	0.075977	0.72421	D	0.579	0.83024	0.333	0.32005	0.888667593148	0.88757	0.7222536308916031	0.72169	0.886788798741	0.70032	0.548338890076	0.45624	T	0.256649	0.62758	T	0.306432	0.83474	D	0.202392	0.83259	D	0.662268936634064	0.38995	D	0.836316	0.50742	T	0.14385548	0.33045	0.16804393	0.38735	0.14385548	0.33044	0.16804393	0.38734	-4.334	0.28651	T	.	.	0.213	0.47986	B	.;.;.;.;.	.;.;.;.;.	3.093581	0.41662	21.4	0.98833140541976039	0.46985	0.99559	0.97436	D	AEFDBI	0.727721	0.67597	D	-0.0203408901235257	0.40935	2.43971	0.135603250641044	0.46382	2.88523	0.999999997703222	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.48	4.51	0.54589	4.873000	0.62751	4.892000	0.45774	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9248:0.0:0.0752	13.539	0.61121	407	0.82314	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2993.98	38	chr17	44804841	.	C	A	2993.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.838e+00;DP=938;ExcessHet=0.0000;FS=0.491;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.67;ReadPosRankSum=-1.700e-02;SOR=0.657	GT:AD:DP:GQ:PL	0/1:102,117:219:99:3008,0,2789	20	0	1	0
chr17	44904956	44904956	C	T	exonic	FAM187A	.	nonsynonymous SNV	FAM187A:NM_001258400:exon1:c.C1127T:p.S376L,	.	.	425	1033	62	2	0	66	0.0309568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.103	B	0.01	B	0.370	N	1.000	N	.	.	0.97	T	-1.024	T	0.051	T	0.121	0.726	7.861	2.32	0.906	0.341	4.057	0.069	.	.	0.00259585	0.0091	0.0011	0.0068	0	0	0.0013	0.0146	0.0181	0.0013713	212	154602	rs555402721	0.0023	0.0022	0.0017	0.0028	0.0176	0.0022	0.0022	0.0168	0.0165	0.0002	0.0009	0.0004	2.798e-05	0.0007	0.0114	0.0013	0.0028	0.0176	0.0016	0.0016	0.0014	0.0019	0.0172	0.0015	0.0014	0.0142	0.0131	0.0002	0	0.0023	0	0.0002	0.0004	0.0170	0.0016	0.0043	0.0172	0.465	0.08609	T	0.62	0.07444	T	0.103	0.25884	B	0.01	0.14941	B	0.369594	0.04354	N	1.395560	1	0.08975	N	1.7	0.43825	L	0.97	0.42502	T	-1.04	0.27259	N	0.175	0.18784	-1.0236	0.22541	T	0.051	0.21883	T	9	0.004670471	0.00098	T	.	.	.	0.069	0.20116	.	.	0.447609009685	0.44385	0.5473808828241131	0.54664	.	.	0.285807311535	0.08314	T	0.008464	0.07774	T	-0.616405	0.00116	T	-0.64392	0.09385	T	0.0016297578096169	0.00017	T	0.733627	0.34942	T	0.042301055	0.06391	0.033432566	0.02237	0.042301055	0.06391	0.033432566	0.02236	-2.481	0.05653	T	.	.	0.094	0.14523	B	.	.	1.401737	0.18160	13.58	0.63598281148254254	0.07266	0.13302	0.17779	N	AEFDGBHCI	.	.	.	-0.809649728053484	0.13063	0.6409545	-0.827799331297762	0.13823	0.7191289	0.999999166461778	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.54	2.32	0.27895	0.358000	0.19952	2.301000	0.32018	0.599000	0.40250	0.000000	0.06391	0.011000	0.20116	0.043000	0.14563	0.2172:0.4511:0.0:0.3317	4.057	0.09301	764	0.49969	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2889.98	38	chr17	44904956	.	C	T	2889.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.240e-01;DP=962;ExcessHet=0.0000;FS=1.045;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=-8.370e-01;SOR=0.710	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1320	20	0	1	0
chr17	44914060	44914060	C	G	exonic	GFAP	.	nonsynonymous SNV	GFAP:NM_001131019:exon2:c.G490C:p.E164Q	Alexander disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.01	B	0.09	B	0.000	D	1.000	D	1.475	L	-2.52	D	0.074	D	0.607	D	0.397	3.537	18.05	4.65	2.667	4.513	15.760	0.469	0.0401070247325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.53172	D	0.032	0.66756	D	0.003	0.11197	B	0.09	0.29851	B	0.000006	0.62929	D	0.061993	0.999806	0.81001	D	2.225	0.63025	M	-2.52	0.89363	D	-2.38	0.52451	N	0.259	0.29313	0.074	0.83689	D	0.607	0.86043	D	10	0.47870228	0.60300	T	0.040107	0.59190	D	0.469	0.76355	0.442	0.49811	0.997287908332	0.99725	0.352658758475693	0.35179	0.425138627803	0.42928	0.36696600914	0.20395	T	0.731168	0.92477	D	0.0911596	0.63319	D	-0.106832	0.62862	T	0.964136123657227	0.66866	D	0.861714	0.59504	D	0.69755	0.77923	0.5580273	0.74433	0.69755	0.77924	0.5580273	0.74434	-8.793	0.66355	D	0.2746955537386417	0.36896	0.151	0.43599	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.367623	0.46524	22.3	0.99552632573546285	0.71273	0.96682	0.70378	D	AEFDBI	0.720336	0.67093	D	0.0744422105159435	0.45272	2.786582	0.239186271969454	0.52036	3.381346	0.999998651944251	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.67	4.65	0.57626	4.612000	0.60873	5.944000	0.51530	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.764000	0.36293	0.0:0.8634:0.1366:0.0	15.760	0.77842	749	0.51929	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;.;.;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1381.98	35	chr17	44914060	.	C	G	1381.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.18;DP=819;ExcessHet=0.0000;FS=6.812;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.36;ReadPosRankSum=0.665;SOR=0.527	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr17	45030174	45030174	G	A	exonic	DCAKD	.	nonsynonymous SNV	DCAKD:NM_001128631:exon4:c.C322T:p.R108C	.	.	437	1075	8	2	0	12	0.00555042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.64	P	0.236	B	0.000	D	1.000	D	2.575	M	0.92	T	-0.848	T	0.145	T	0.849	3.464	17.74	5.53	2.598	6.421	14.321	0.300	0.144303585302	0.0013	0.00139776	0.0017	0.0009	0.0007	0	0.0002	0.0012	0	0.0064	0.0016494	255	154602	rs144472327	0.0022	0.0022	0.0021	0.0024	0.0061	0.0022	0.0021	0.0057	0.0055	0.0003	0.0003	3.826e-05	0.0001	0.0002	0.0016	0.0023	0.0017	0.0061	0.0013	0.0013	0.0014	0.0012	0.0075	0.0012	0.0011	0.0055	0.0049	0.0007	0	0.0004	0.0003	0.0014	0.0004	0.0034	0.0017	0.0009	0.0075	0.011	0.72154	D	0.004	0.74150	D	0.64	0.40395	P	0.236	0.38470	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.835	0.48228	L	0.92	0.46412	T	-5.05	0.82700	D	0.853	0.84922	-0.8481	0.52099	T	0.145	0.46786	T	10	0.009757966	0.00219	T	0.144304	0.82657	D	0.300	0.62068	.	.	0.652187244737	0.64929	.	.	1.0403727168	0.75771	0.474705576897	0.35329	T	0.204902	0.56381	T	-0.148394	0.28564	T	0.0166779	0.71415	D	0.0604275424180223	0.07235	T	0.948405	0.81587	D	0.36094448	0.57908	0.30571213	0.56597	0.36094448	0.57908	0.30571213	0.56596	-9.199	0.68968	D	.	.	0.264	0.50699	B	.;.;.;.;.;.	.;.;.;.;.;.	4.910698	0.80791	27.4	0.99902560252113937	0.97426	0.86181	0.45413	D	ALL	0.846020	0.76291	D	0.479380700895231	0.65887	4.879376	0.541852941781104	0.70833	5.563587	0.999999995025998	0.74766	0.706548	0.73137	0	0.648423	0.57943	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	6.582000	0.73941	11.871000	0.98575	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:0.0:0.8517:0.1483	14.321	0.66041	618	0.66225	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2228.11	36	chr17	45030174	.	G	A	2228.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.379;DP=1066;ExcessHet=0.1072;FS=3.221;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=0.705;SOR=0.939	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	19	0	2	0
chr17	45103718	45103718	G	A	exonic	NMT1	.	nonsynonymous SNV	NMT1:NM_021079:exon10:c.G1174A:p.G392R,	.	.	412	1107	3	0	0	3	0.00135318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.993	D	0.000	D	1.000	D	2.94	M	0.8	T	-0.216	T	0.345	T	0.634	3.281	17.02	4.43	1.514	7.860	14.220	0.325	0.0608072480976	.	.	3.362e-05	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs779143534	1.164e-05	1.163e-05	5.449e-06	1.79e-05	0.0001	7.09e-06	5.8e-06	8.01e-05	6.246e-05	0	0	0	0	0	0	2.7e-06	3.314e-05	0.0001	1.314e-05	1.313e-05	0	2.691e-05	0.0004	2.18e-06	8.2e-07	7.287e-05	3.028e-05	0	0	0	0	0	0	0	0	0	0.0004	0.015	0.52492	D	0.009	0.66756	D	1.0	0.90584	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.615	0.76484	M	0.8	0.48769	T	-4.43	0.77554	D	0.725	0.72656	-0.2161	0.77255	T	0.345	0.71004	T	10	0.8220979	0.81408	D	0.060807	0.68123	D	0.325	0.64725	0.674	0.81200	0.5759245713	0.57261	0.8999857965550545	0.89970	2.09006224248	0.94723	0.730839967728	0.71629	T	0.555836	0.85043	D	-0.114929	0.33955	T	-0.166195	0.57790	T	0.955854654312134	0.64611	D	0.90041	0.65400	D	0.58934426	0.72115	0.42742535	0.66488	0.58934426	0.72116	0.42742535	0.66488	-6.71	0.51886	T	.	.	0.192	0.41738	B	.;.	.;.	4.711526	0.75700	26.4	0.99900685622207375	0.97275	0.95810	0.66250	D	AEFGBCI	0.875681	0.79924	D	0.653848194364625	0.76618	6.51993	0.529091703104797	0.69956	5.434924	0.999999999885296	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.39	4.43	0.52967	8.190000	0.89672	8.733000	0.78189	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.229000	0.22707	0.0712:0.0:0.9288:0.0	14.220	0.65362	657	0.62240	Myristoyl-CoA:protein N-myristoyltransferase, C-terminal;Myristoyl-CoA:protein N-myristoyltransferase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2360.98	34	chr17	45103718	.	G	A	2360.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.17;DP=901;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=0.719;SOR=0.683	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1327	20	0	1	0
chr17	45115378	45115378	T	C	exonic	PLCD3	.	nonsynonymous SNV	PLCD3:NM_133373:exon9:c.A1526G:p.E509G,	.	.	425	1092	4	1	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.001	B	0.001	B	0.137	N	1.000	N	.	.	-0.03	T	-1.048	T	0.111	T	0.234	0.694	7.704	1.95	0.550	2.009	4.630	0.050	0.00607007113588	0.0013	0.000998403	0.0034	0.0009	0.0007	0	0	0.0054	0.0029	0.0021	0.0001921	5	26028	rs201091708	0.0020	0.0020	0.0020	0.0020	0.0025	0.0019	0.0019	0.0023	0.0022	0.0004	0.0009	0.0001	0	0.0002	0.0025	0.0024	0.0016	0.0013	0.0016	0.0016	0.0017	0.0015	0.0028	0.0015	0.0014	0.0025	0.0024	0.0005	0	0.0017	0	0.0002	0	0	0.0028	0.0010	0.0013	.	.	.	0.128	0.34959	T	0.001	0.07471	B	0.001	0.04355	B	0.136918	0.18430	N	0.554792	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.276	0.31253	-1.0483	0.14875	T	0.111	0.39982	T	9	0.004010886	0.00078	T	0.00607	0.15875	T	.	.	.	.	0.33085137897	0.32697	0.28596511527058166	0.28509	.	.	0.414021372795	0.27013	T	0.169042	0.51627	T	-0.492702	0.00628	T	-0.478175	0.24641	T	0.0012408485801334	0.00012	T	0.375062	0.08943	T	0.10462618	0.24735	0.08688255	0.20157	0.10462618	0.24735	0.08688255	0.20157	-6.516	0.50410	T	.	.	0.068	0.02797	B	.	.	1.607074	0.20540	14.80	0.93778404646514868	0.23735	0.50954	0.28783	D	AEFBI	0.225374	0.34947	N	-0.761437026362282	0.14324	0.7126234	-0.793559396281998	0.14652	0.7667219	0.992846858212306	0.32989	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	3.03	1.95	0.25130	0.993000	0.29281	1.450000	0.26598	0.665000	0.62972	0.001000	0.13787	0.983000	0.30585	0.080000	0.17246	0.0:0.1151:0.1945:0.6904	4.630	0.11881	653	0.62661	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	918.11	29	chr17	45115378	.	T	C	918.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.388e+00;DP=742;ExcessHet=0.1072;FS=3.105;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.08;ReadPosRankSum=-8.360e-01;SOR=1.179	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1398	19	0	2	0
chr17	45237626	45237626	A	G	exonic	FMNL1	.	nonsynonymous SNV	FMNL1:NM_005892:exon9:c.A881G:p.D294G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.996	D	0.914	D	0.000	D	1.000	D	2.22	M	-2.34	D	0.178	D	0.683	D	0.712	3.067	16.24	2.84	0.843	9.139	9.270	0.718	0.208090546915	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs755368952	1.368e-05	1.368e-05	1.361e-05	1.375e-05	1.799e-05	8.94e-06	7.26e-06	1.174e-05	9.55e-06	0	0	0	0	0	0	1.799e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.024	0.56640	D	0.996	0.68779	D	0.914	0.64984	D	0.000081	0.51296	D	0.166361	1	0.81001	D	.	.	.	-2.34	0.87989	D	-5.59	0.86527	D	0.822	0.81758	0.178	0.85541	D	0.683	0.89058	D	10	0.90214694	0.89577	D	0.208091	0.87128	D	0.718	0.90011	0.692	0.82938	0.870481337764	0.86921	0.7939759188123706	0.79350	0.762324441734	0.64334	0.815022706985	0.84263	D	0.732762	0.92534	D	0.280173	0.81330	D	0.180158	0.82004	D	0.968489766120911	0.68260	D	0.981102	0.93484	D	0.876808	0.89406	0.81519085	0.89231	0.876808	0.89408	0.81519085	0.89231	-11.716	0.83441	D	.	.	0.682	0.72226	P	.	.	4.576284	0.72255	25.8	0.99421510037698713	0.63790	0.99171	0.92276	D	AEFGBI	0.898717	0.84230	D	0.492919177054094	0.66674	4.980904	0.425064117461529	0.63131	4.540841	0.999915730376051	0.45857	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	3.93	2.84	0.32241	9.308000	0.95301	11.207000	0.89260	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.9117:0.0:0.0882:0.0	9.270	0.36826	440	0.80101	Formin, FH3 domain|Rho GTPase-binding/formin homology 3 (GBD/FH3) domain|Formin, FH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2814.98	39	chr17	45237626	.	A	G	2814.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.415;DP=983;ExcessHet=0.0000;FS=4.302;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=-6.410e-01;SOR=0.720	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1283	20	0	1	0
chr17	45242070	45242070	-	CCG	exonic	FMNL1	.	nonframeshift insertion	FMNL1:NM_005892:exon15:c.1809_1810insCCG:p.P612_G613insP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	5739.79	40	chr17	45242067	.	TCCG	T,TCCGCCG	5739.79	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=-3.300e-02;DP=925;ExcessHet=1.1607;FS=1.351;InbreedingCoeff=-0.1351;MLEAC=3,2;MLEAF=0.071,0.048;MQ=60.00;MQRankSum=0.00;QD=17.94;ReadPosRankSum=-7.100e-02;SOR=0.799	GT:AD:DP:GQ:PL	0/0:40,0,0:40:99:0,99,1485,99,1485,1485	16	0	3	0
chr17	45264641	45264641	G	T	exonic	MAP3K14	.	nonsynonymous SNV	MAP3K14:NM_003954:exon16:c.C2839A:p.P947T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	0.729	N	0.695	N	.	.	-0.480	T	0.270	T	0.641	3.672	18.66	5.71	2.700	5.425	16.999	0.165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.015e-07	1.368e-06	0	1.417e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.986	0.76916	D	0.000044	0.53742	D	0.122569	.	.	.	1.245	0.31408	L	.	.	.	.	.	.	0.318	0.36254	-0.4800	0.69366	T	0.270	0.64204	T	8	0.59294987	0.66483	D	.	.	.	0.165	0.42395	0.256	0.19689	0.39619538035	0.39233	0.40891390247347886	0.40807	.	.	0.665855526924	0.62247	T	0.405392	0.76158	T	0.225748	0.76319	D	0.0864944	0.76011	D	0.84839916229248	0.50027	D	0.821518	0.48098	T	0.2647325	0.49540	0.4353966	0.67027	0.2647325	0.49540	0.4353966	0.67027	-3.878	0.21973	T	.	.	0.135	0.29311	B	.;.;.	.;.;.	3.499378	0.48948	22.7	0.99793160212069032	0.87839	0.87140	0.46590	D	AEFGBHCI	.	.	.	0.571905817759109	0.71424	5.649009	0.603844214618808	0.75218	6.271953	0.99999999212628	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.121787	0.03316	0	0.221052	0.04502	0	0.978197	0.82212	5.71	5.71	0.89031	3.184000	0.50627	3.958000	0.40726	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.666000	0.33137	0.0:0.0:1.0:0.0	16.999	0.86250	514	0.74853	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	767.98	35	chr17	45264641	.	G	T	767.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.302e+00;DP=773;ExcessHet=0.0000;FS=7.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=0.115;SOR=0.186	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1118	20	0	1	0
chr17	45396221	45396221	T	C	exonic	ARHGAP27	.	nonsynonymous SNV	ARHGAP27:NM_001385396:exon12:c.A1049G:p.Y350C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.002	N	1.000	D	0.925	L	2.22	T	-1.103	T	0.071	T	0.491	2.612	14.70	4.54	1.905	0.862	11.867	0.152	0.0271089238162	0.0004	.	0.0005	0	8.672e-05	0	0.0003	0.0008	0.0011	0	0.0004204	65	154602	rs144020235	0.0005	0.0005	0.0004	0.0005	0.0006	0.0004	0.0004	0.0005	0.0005	2.988e-05	2.241e-05	0	0	0.0004	0	0.0006	0.0003	0	0.0006	0.0006	0.0006	0.0005	0.0012	0.0005	0.0004	0.0010	0.0009	4.826e-05	0	0	0.0003	0	9.416e-05	0	0.0012	0	0	0.002	0.72154	D	0.005	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.002323	0.36766	N	0.234215	0.999669	0.48141	D	0.955	0.23872	L	2.22	0.18248	T	-5.21	0.86758	D	0.604	0.62188	-1.1035	0.03693	T	0.071	0.28839	T	10	0.19845343	0.35816	T	0.027109	0.49956	D	0.152	0.39956	.	.	0.658368657282	0.65551	0.5773139338383869	0.57660	0.6537391267	0.58494	0.639196276665	0.58449	T	0.033782	0.35996	T	-0.429063	0.01502	T	-0.39246	0.34263	T	0.240698795180042	0.22452	T	0.938006	0.86318	D	0.46084386	0.64723	0.40811008	0.65137	0.46084386	0.64724	0.40811008	0.65137	-8.378	0.63619	D	.	.	0.354	0.60725	A	.;.;.;.;.	.;.;.;.;.	6.217705	0.94815	34	0.99466919126417275	0.66102	0.71308	0.34957	D	AEFDGBHCI	0.326062	0.42746	N	0.282609723416381	0.55266	3.690828	0.248718007340489	0.52579	3.43161	0.999217672312103	0.38775	0.67177	0.52595	0	0.702456	0.74545	0	0.779548	0.98927	0	0.635551	0.53088	0	.	.	4.54	4.54	0.55220	0.859000	0.27513	5.964000	0.51876	0.651000	0.53179	0.603000	0.27772	1.000000	0.68203	0.968000	0.53726	0.0:0.0:0.0:1.0	11.867	0.51779	389	0.83303	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	312.98	39	chr17	45396221	.	T	C	312.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.058;DP=776;ExcessHet=0.0000;FS=1.283;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.63;ReadPosRankSum=-7.430e-01;SOR=0.926	GT:AD:DP:GQ:PL	0/1:27,14:41:99:327,0,788	20	0	1	0
chr17	45396508	45396508	T	C	exonic	ARHGAP27	.	nonsynonymous SNV	ARHGAP27:NM_001385386:exon12:c.A1501G:p.I501V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.262	B	0.148	B	0.000	D	1.000	D	0.75	N	2.32	T	-1.048	T	0.028	T	0.186	2.682	14.93	2.97	0.726	2.051	7.536	0.037	0.0151399832038	.	.	0.0004	0	0	0	0	0	0	0.0010	5.17e-05	8	154602	rs758940297	2.337e-05	2.326e-05	9.828e-06	3.715e-05	0.0004	1.667e-05	1.466e-05	0.0003	0.0002	0	0	0	0	0	0	0	3.404e-05	0.0004	6.572e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.188	0.42487	T	0.085	0.62352	T	0.262	0.31549	B	0.148	0.34065	B	0.000000	0.84330	D	0.000000	0.999816	0.49394	D	1.12	0.28775	L	2.32	0.16640	T	-0.61	0.19509	N	0.268	0.30347	-1.0484	0.14846	T	0.028	0.12103	T	10	0.087124646	0.14878	T	0.01514	0.35698	T	0.037	0.09474	0.628	0.76366	0.178374595973	0.17440	0.4066476721870245	0.40580	0.39818620588	0.40889	0.728325128555	0.71262	T	0.014632	0.12601	T	-0.442126	0.01256	T	-0.558601	0.16507	T	0.0826663373445466	0.10325	T	0.829517	0.51225	T	0.13590786	0.31526	0.1125389	0.27154	0.13590786	0.31525	0.1125389	0.27153	-6.048	0.47866	T	.	.	0.104	0.27762	B	.;.;.;.;.	.;.;.;.;.	3.094988	0.41689	21.4	0.99434840795110946	0.64472	0.88198	0.48020	D	AEFDBI	0.372493	0.45812	N	-0.443355584501337	0.23966	1.290751	-0.350532761782458	0.26493	1.463664	0.995556835275146	0.34191	0.67177	0.52595	0	0.702456	0.74545	0	0.693117	0.63056	0	0.635551	0.53088	0	.	.	4.05	2.97	0.33479	1.697000	0.37402	2.738000	0.34441	0.504000	0.22967	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.0:0.1059:0.0:0.8941	7.536	0.26877	389	0.83303	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1615.98	34	chr17	45396508	.	T	C	1615.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.535e+00;DP=812;ExcessHet=0.0000;FS=3.151;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=-1.810e-01;SOR=0.473	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1381	20	0	1	0
chr17	45445602	45445602	T	A	exonic	PLEKHM1	.	nonsynonymous SNV	PLEKHM1:NM_014798:exon9:c.A2705T:p.Q902L,	Osteopetrosis, autosomal recessive 6	.	0	1498	22	2	0	26	0.00860357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.491	P	0.167	B	0.007	N	0.922	D	0.79	N	-0.15	T	-0.833	T	0.136	T	0.477	2.603	14.66	4.59	2.064	4.142	8.549	0.193	0.0749909675046	.	0.000399361	0.0009	0	0	0	0	0.0002	0	0.0056	0.0006856	106	154602	rs202150970	0.0005	0.0005	0.0003	0.0006	0.0059	0.0004	0.0004	0.0055	0.0054	2.988e-05	0.0001	0	0	0	0.0026	0.0001	0.0004	0.0059	0.0002	0.0002	0.0002	0.0003	0.0041	0.0002	0.0001	0.0027	0.0023	0	0	0.0003	0	0	0	0.0034	0.0001	0	0.0041	0.012	0.54683	D	0.162	0.31225	T	0.393	0.34680	B	0.167	0.35118	B	0.006550	0.31955	N	0.303860	0.921527	0.36692	D	0.74	0.18910	N	-0.16	0.65378	T	-3.97	0.73684	D	0.457	0.49420	-0.8326	0.53133	T	0.136	0.45164	T	10	0.008028686	0.00182	T	0.074991	0.72178	D	0.193	0.47281	.	.	0.58541143898	0.58214	0.47933704477401223	0.47853	1.12430380814	0.78398	0.40170788765	0.25306	T	0.286848	0.65963	T	-0.347536	0.04883	T	-0.270069	0.47812	T	0.0756488155978868	0.09422	T	.	.	.	0.28866607	0.51868	0.30442202	0.56471	0.25537038	0.48571	0.26456544	0.52277	-6.071	0.46869	T	.	.	0.171	0.37633	B	.	.	3.909595	0.57010	23.8	0.98840135051041955	0.47102	0.92204	0.55177	D	AEFGBI	0.572506	0.57606	D	-0.0028271487652555	0.41727	2.501141	0.112093294982156	0.45165	2.784664	0.999970400608632	0.50053	0.489673	0.17934	0	0.653731	0.59785	0	0.566861	0.19136	0	0.662433	0.64102	0	.	.	4.59	4.59	0.56297	3.551000	0.53445	7.828000	0.70003	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.0:0.1954:0.8046	8.549	0.32601	368	0.84463	Putative zinc-RING and/or ribbon|Putative zinc-RING and/or ribbon	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	578.98	35	chr17	45445602	.	T	A	578.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.420e-01;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.62;MQRankSum=0.292;QD=6.23;ReadPosRankSum=0.577;SOR=0.760	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,102,1530	20	0	1	0
chr17	45846168	45846168	C	G	exonic	SPPL2C	.	nonsynonymous SNV	SPPL2C:NM_175882:exon1:c.C1262G:p.P421R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.001	N	1.000	D	3.54	H	0.12	T	0.224	D	0.506	D	0.973	2.567	14.54	5.17	2.688	3.539	16.204	0.544	0.0270219490642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.001242	0.39669	N	0.000000	1	0.81001	D	3.76	0.95097	H	0.12	0.61089	T	-8.65	0.97547	D	0.905	0.90590	0.224	0.86312	D	0.506	0.81377	D	10	0.98465145	0.98672	D	0.027022	0.49875	D	0.544	0.81018	0.864	0.95995	0.705773429643	0.70321	0.7190580348023236	0.71848	0.570105786278	0.53176	0.529340922832	0.42941	T	0.214801	0.57648	T	0.32338	0.84711	D	0.226736	0.84510	D	0.997812867164612	0.92489	D	0.975769	0.91515	D	0.80553246	0.84261	0.8487671	0.91422	0.80553246	0.84263	0.8487671	0.91423	-12.186	0.85745	D	.	.	0.867	0.80682	P	.	.	4.536909	0.71281	25.6	0.99760727062023091	0.85011	0.95091	0.63404	D	AEFBI	0.498601	0.53263	N	0.708799881749221	0.80211	7.244	0.574350545561274	0.73106	5.916613	0.999993968468925	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.17	5.17	0.70848	5.344000	0.65751	5.917000	0.51107	-0.224000	0.07868	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:1.0:0.0:0.0	16.204	0.81926	618	0.66225	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3852.98	90	chr17	45846168	.	C	G	3852.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.800e-02;DP=2745;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.43;ReadPosRankSum=2.28;SOR=0.682	GT:AD:DP:GQ:PL	0/0:111,0:111:99:0,120,1800	20	0	1	0
chr17	46067549	46067549	G	A	exonic	KANSL1	.	nonsynonymous SNV	KANSL1:NM_001193466:exon5:c.C1652T:p.T551I	Koolen-De Vries syndrome, Autosomal dominant	YES	3	1518	1	0	0	1	0.000329272	0.0082	0.082	376119	not_provided|Koolen-de_Vries_syndrome	MedGen:C3661900|MONDO:MONDO:0012496,MedGen:C1864871,OMIM:610443,Orphanet:96169	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.605	P	0.171	B	0.015	N	1.000	D	0.345	N	0.89	T	-1.104	T	0.052	T	0.31	2.016	12.70	3.13	0.519	2.017	8.954	0.032	0.0115738278123	.	.	0.0003	0	0.0030	0	0	4.496e-05	0.0011	0	0.0002587	40	154602	rs778178483	7.954e-05	7.74e-05	9.176e-05	6.733e-05	0.0015	6.728e-05	6.289e-05	0.0012	0.0011	0	0.0015	0	0	0	0	3.423e-05	0.0001	0	3.944e-05	3.941e-05	5.141e-05	2.691e-05	0.0004	1.716e-05	1.13e-05	0.0002	0.0001	0	0	0.0004	0	0	0	0	0	0	0	0.074	0.34621	T	0.143	0.38160	T	.	.	.	.	.	.	0.015302	0.28282	N	0.414164	1	0.81001	D	.	.	.	0.89	0.45636	T	-1.67	0.39887	N	0.518	0.55106	-1.1044	0.03598	T	0.052	0.22114	T	9	0.013761759	0.00291	T	0.011574	0.29327	T	0.032	0.07718	0.274	0.22528	0.117191471859	0.11215	0.48463193866998194	0.48383	0.516667203	0.49549	0.46329960227	0.33763	T	.	.	.	-0.448382	0.01155	T	-0.45738	0.26884	T	0.0248115787521781	0.01248	T	0.878412	0.61048	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.51341	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.346942	0.46141	22.3	0.99333349918954461	0.59856	0.94770	0.62270	D	AEFBI	0.272466	0.38809	N	-0.152775370061714	0.35115	2.013016	-0.0532126920741563	0.37352	2.185828	0.447617493224262	0.20510	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.23	3.13	0.35090	2.157000	0.41946	4.028000	0.41312	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.885000	0.42453	0.0:0.1691:0.6677:0.1632	8.954	0.34965	405	0.82444	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	532.98	33	chr17	46067549	.	G	A	532.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=775;ExcessHet=0.0000;FS=0.978;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.20;ReadPosRankSum=0.789;SOR=0.534	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1245	20	0	1	0
chr17	46171537	46171537	C	G	exonic	KANSL1	.	nonsynonymous SNV	KANSL1:NM_001193466:exon2:c.G607C:p.G203R	Koolen-De Vries syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	346284	not_specified|not_provided|Koolen-de_Vries_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012496,MedGen:C1864871,OMIM:610443,Orphanet:96169	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.5	T	0.372	B	0.299	B	0.008	N	1.000	D	0	N	2.79	T	-0.876	T	0.013	T	0.445	1.925	12.39	6.04	2.873	0.244	11.457	0.117	0.0148833137326	0.0018	0.00139776	0.0005	0.0059	0	0.0001	0	1.509e-05	0	0	0.0005045	78	154602	rs138175526	0.0002	0.0002	0.0002	0.0002	0.0066	0.0002	0.0002	0.0058	0.0056	0.0066	0.0003	7.685e-05	2.519e-05	0	0.0007	2.43e-05	0.0004	9.293e-05	0.0017	0.0017	0.0019	0.0014	0.0058	0.0015	0.0014	0.0052	0.0050	0.0058	0	0.0005	0	0	0	0.0034	0	0.0009	0	0.029	0.45756	D	0.478	0.13030	T	.	.	.	.	.	.	0.007549	0.31331	N	0.331675	1	0.81001	D	.	.	.	2.79	0.11189	T	-0.95	0.25332	N	0.215	0.30118	-0.8764	0.50044	T	0.013	0.05129	T	10	0.0055753887	0.00123	T	0.014883	0.35280	T	0.117	0.32689	0.105	0.01753	0.082315109003	0.07666	0.16473883660042404	0.16393	0.0208422409897	0.02056	0.450694382191	0.32039	T	.	.	.	-0.490827	0.00643	T	-0.476035	0.24869	T	0.0263946811296605	0.01459	T	0.849215	0.53152	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.36594	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.143830	0.42536	21.6	0.99456414297166684	0.65581	0.87485	0.47040	D	AEFBCI	0.298517	0.40781	N	-0.171884017562714	0.34307	1.956709	0.0603000088784198	0.42571	2.577306	0.999999885288528	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.696144	0.63334	0	0.714379	0.83352	0	.	.	6.04	6.04	0.98025	0.310000	0.19112	3.332000	0.37635	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.999000	0.91618	0.0:0.9187:0.0:0.0813	11.457	0.49434	169	0.93437	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	3174.98	34	chr17	46171537	.	C	G	3174.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.875;DP=1804;ExcessHet=0.0000;FS=3.106;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.05;ReadPosRankSum=1.89;SOR=0.775	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1620	20	0	1	0
chr17	46171672	46171672	C	G	exonic	KANSL1	.	nonsynonymous SNV	KANSL1:NM_001193466:exon2:c.G472C:p.A158P	Koolen-De Vries syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.997	D	0.925	D	0.000	D	1.000	D	0.805	L	2.51	T	-1.173	T	0.061	T	0.913	4.117	21.2	5.92	2.813	5.149	17.053	0.245	0.0177247274648	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1250112340	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.015	0.63918	D	.	.	.	.	.	.	0.000001	0.84330	D	0.055507	0.999516	0.81001	D	.	.	.	2.51	0.14284	T	-1.83	0.42957	N	0.877	0.88909	-1.1726	0.00491	T	0.061	0.25383	T	10	0.49691832	0.61321	T	0.017725	0.39542	T	0.245	0.55201	0.27	0.21893	0.427830603989	0.42401	0.5725063555389703	0.57178	0.145286780944	0.16417	0.779345989227	0.78829	T	.	.	.	0.180125	0.72055	D	0.0209605	0.71693	D	0.724888105143395	0.41947	D	0.935106	0.75644	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.956	0.88707	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.729608	0.76160	26.5	0.9971437370172348	0.81563	0.96755	0.70766	D	AEFBCI	0.815184	0.73722	D	0.625639522418947	0.74799	6.194729	0.67993542309706	0.80859	7.393132	0.999999999997345	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.696144	0.63334	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	5.221000	0.65104	5.966000	0.51911	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	17.053	0.86400	169	0.93437	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1524.98	34	chr17	46171672	.	C	G	1524.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.545;DP=1732;ExcessHet=0.0000;FS=2.151;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=-8.910e-01;SOR=0.907	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1620	20	0	1	0
chr17	46171732	46171732	G	T	exonic	KANSL1	.	nonsynonymous SNV	KANSL1:NM_001193466:exon2:c.C412A:p.L138I	Koolen-De Vries syndrome, Autosomal dominant	.	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.012	B	0.03	B	0.000	D	1.000	D	0.46	N	2.68	T	-1.040	T	0.021	T	0.149	1.375	10.53	2.37	0.786	2.703	7.785	0.039	0.00935574776519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.208e-06	4.104e-06	2.783e-06	5.656e-06	0.0005	1.51e-06	9.9e-07	0.0001	7.857e-05	3.176e-05	0	0	0	0	0.0005	9.112e-07	1.704e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.36113	T	0.087	0.40747	T	.	.	.	.	.	.	0.000383	0.44960	D	0.147353	1	0.81001	D	.	.	.	2.68	0.12371	T	-0.98	0.25986	N	0.167	0.18376	-1.0399	0.17343	T	0.021	0.08639	T	10	0.13124296	0.24978	T	0.009356	0.24553	T	0.039	0.10176	0.169	0.07419	0.138757226776	0.13463	0.14938984815313766	0.14860	0.0226149863449	0.02283	0.644986510277	0.59273	T	.	.	.	-0.151699	0.28045	T	-0.455681	0.27070	T	0.527356803417206	0.33636	D	0.760024	0.39305	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.19518	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.075069	0.41348	21.3	0.92163429794498986	0.21526	0.89290	0.49665	D	AEFBCI	0.484509	0.52449	N	-0.286740233897158	0.29659	1.646757	-0.110916402179087	0.34949	2.016218	0.9935509940591	0.33262	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.74	2.37	0.28337	2.727000	0.46981	3.594000	0.39199	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1579:0.0:0.7009:0.1411	7.785	0.28253	169	0.93437	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2231.98	34	chr17	46171732	.	G	T	2231.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.409e+00;DP=1640;ExcessHet=0.0000;FS=5.065;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.72;ReadPosRankSum=1.09;SOR=0.988	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1620	20	0	1	0
chr17	46297285	46297285	G	A	exonic	LRRC37A	.	nonsynonymous SNV	LRRC37A:NM_014834:exon1:c.G2152A:p.V718I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.008	B	0.006	B	.	.	1.000	N	1.59	L	0.14	T	-0.995	T	0.119	T	0.037	-0.076	3.631	-3.64	-1.403	-0.773	1.088	0.041	0.00483260882106	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1286064870	0.0012	0.0010	0.0013	0.0011	0.0267	0.0011	0.0010	0.0243	0.0234	0.0267	0.0033	0	0.0008	0	0	5.933e-05	0.0029	0.0007	0.0061	0.0077	0.0059	0.0064	0.0223	0.0056	0.0054	0.0204	0.0197	0.0223	0	0.0029	0	0	0	0	5.612e-05	0.0011	0.0007	0.154	0.24277	T	0.322	0.19016	T	0.008	0.14655	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	2.425	0.70256	M	0.11	0.61208	T	-0.47	0.15178	N	0.042	0.02088	-0.9950	0.31299	T	0.119	0.41648	T	9	0.0030721128	0.00051	T	0.004833	0.12098	T	0.041	0.10877	.	.	0.043077524339	0.03247	0.039897716467785845	0.03935	.	.	0.720985114574	0.70190	T	0.011713	0.10413	T	-0.268068	0.11972	T	-0.622838	0.10963	T	0.0172612044604597	0.00468	T	0.0819918	0.00611	T	0.027022619	0.01836	0.025842313	0.00645	0.027022619	0.01835	0.025842313	0.00645	-6.38	0.49353	T	.	.	0.091	0.13127	B	.;.	.;.	-0.104907	0.03612	0.711	0.62382280820097757	0.06948	0.00321	0.01686	N	AEFI	0.027564	0.02277	N	-1.56195723588409	0.01466	0.06397825	-1.71543671470661	0.01071	0.04807242	1.24660615070131E-4	0.05386	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	1.82	-3.64	0.04225	-0.364000	0.07635	-20.000000	0.00162	-1.296000	0.01249	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1384:0.177:0.3284:0.3562	1.088	0.01553	0	0.99858	Leucine-rich repeat-containing protein 37, N-terminal;Leucine-rich repeat-containing protein 37, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	301.33	33	chr17	46297285	.	G	A	301.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=4.82;DP=691;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=26.35;MQRankSum=-1.304e+00;QD=5.29;ReadPosRankSum=-9.000e-03;SOR=0.588	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1330	19	0	1	1
chr17	46546292	46546292	T	C	exonic	LRRC37A2	.	nonsynonymous SNV	LRRC37A2:NM_001006607:exon8:c.T3091C:p.F1031L,	.	.	.	.	.	.	.	.	.	.	.	2344130	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.819	P	0.334	B	.	.	1.000	D	1.78	L	0.16	T	-0.917	T	0.155	T	0.143	2.278	13.57	2.58	0.505	0.064	5.522	0.089	.	.	.	0.0018	0.0115	0	0	0	0.0009	0	0	3.84e-05	1	26028	rs774129178	0.0008	0.0011	0.0007	0.0008	0.0049	0.0007	0.0007	0.0040	0.0037	0.0049	0.0007	0.0009	2.791e-05	0.0004	0.0017	0.0008	0.0008	0.0002	0.0018	0.0037	0.0020	0.0015	0.0038	0.0016	0.0015	0.0032	0.0030	0.0038	0	0.0006	0.0009	0	0.0004	0	0.0015	0.0029	0	0.041	0.41915	D	0.059	0.45961	T	0.819	0.45682	P	0.334	0.42203	B	.	.	.	.	1	0.81001	D	3.045	0.86684	M	0.16	0.60610	T	-4.32	0.76655	D	0.32	0.36989	-0.9166	0.46011	T	0.155	0.48602	T	9	0.009926349	0.00223	T	.	.	.	0.089	0.25827	0.428	0.47515	0.0920862733494	0.08535	0.059049080324874124	0.05845	.	.	0.732844948769	0.71921	T	0.096632	0.39864	T	-0.143624	0.29313	T	-0.444082	0.28352	T	0.12260310872478	0.14682	T	0.50325	0.15827	T	0.18356757	0.39630	0.18671939	0.41861	0.18356757	0.39630	0.18671939	0.41861	-6.654	0.51463	T	.	.	0.924	0.84558	P	.;.	.;.	2.073404	0.26367	17.09	0.99337715874022514	0.60051	0.23021	0.21940	N	AEI	0.056972	0.10574	N	-0.0927762467073318	0.37709	2.197771	-0.122267480445044	0.34493	1.984773	3.34547151443304E-6	0.01202	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	3.66	2.58	0.30011	-0.043000	0.11996	0.511000	0.19080	-0.496000	0.05032	0.822000	0.30018	0.091000	0.22535	0.120000	0.19168	0.0:0.1309:0.0:0.8691	5.522	0.16226	414	0.81871	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	39.99	11	chr17	46546292	.	T	C	39.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.020e-01;DP=333;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0250;MLEAC=1;MLEAF=0.024;MQ=26.31;MQRankSum=-3.326e+00;QD=1.90;ReadPosRankSum=0.538;SOR=0.074	GT:AD:DP:GQ:PL	0/0:17,0:17:51:0,51,661	20	0	1	0
chr17	46769829	46769829	T	G	exonic	WNT3	.	nonsynonymous SNV	WNT3:NM_030753:exon3:c.A542C:p.D181A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.019	B	0.034	B	0.000	D	1.000	D	1.95	M	-1.05	T	-0.332	T	0.387	T	0.838	3.512	17.94	4.49	1.888	7.824	13.949	0.663	0.159092224106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.065	0.44702	T	0.019	0.17989	B	0.034	0.22546	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.57	0.75187	M	-1.05	0.76690	T	-2.79	0.59059	D	0.785	0.78167	-0.3321	0.74072	T	0.387	0.74202	T	10	0.69632775	0.72166	D	0.159092	0.83936	D	0.663	0.87430	0.502	0.59460	0.774179238701	0.77210	0.9512483484054093	0.95108	1.80178249247	0.91663	0.833481371403	0.87097	D	0.901201	0.98063	D	0.276179	0.80986	D	0.158936	0.80740	D	0.969305157661438	0.68543	D	.	.	.	0.7325757	0.79869	0.3681663	0.62111	0.7325757	0.79871	0.3681663	0.62111	-11.852	0.84123	D	.	.	0.913	0.83696	P	.	.	3.644313	0.51686	23.1	0.97974622712760284	0.37275	0.95227	0.63909	D	AEFDGBCIJ	0.899223	0.84337	D	-0.0591182360797124	0.39195	2.307571	0.00557836613511604	0.39973	2.378337	0.999999999999568	0.74766	0.764865	0.99124	0	0.541168	0.11318	0	0.731555	0.93304	0	0.463824	0.07026	1	.	.	4.49	4.49	0.54177	7.974000	0.87654	5.032000	0.46835	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.0:0.0:0.0:1.0	13.949	0.63616	548	0.72362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2236.98	34	chr17	46769829	.	T	G	2236.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.416;DP=895;ExcessHet=0.0000;FS=1.158;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.22;ReadPosRankSum=1.11;SOR=0.817	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1235	20	0	1	0
chr17	46872579	46872579	A	G	exonic	WNT9B	.	nonsynonymous SNV	WNT9B:NM_001320458:exon2:c.A140G:p.Q47R	.	.	420	1079	20	3	0	26	0.0119048	.	.	1630578	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.53	T	0.072	B	0.023	B	0.083	N	0.858	N	1.7	L	-0.95	T	-0.771	T	0.247	T	0.236	0.621	7.343	4.48	2.013	.	11.516	0.128	.	0.0044	0.00339457	0.0075	0.0009	0.0017	0	0.0259	0.0068	0.0136	0.0167	0.0064035	990	154602	rs118185468	0.0065	0.0065	0.0063	0.0067	0.0128	0.0064	0.0063	0.0122	0.0119	0.0005	0.0018	0.0017	2.538e-05	0.0230	0.0079	0.0059	0.0059	0.0128	0.0054	0.0054	0.0048	0.0061	0.0128	0.0051	0.0050	0.0103	0.0093	0.0010	0	0.0011	0.0035	0	0.0231	0	0.0065	0.0038	0.0128	0.134	0.29688	T	0.476	0.30143	T	0.072	0.23997	B	0.023	0.19966	B	0.082512	0.20804	N	0.507715	0.858057	0.28398	N	1.895	0.50365	L	-1.39	0.80387	T	-0.69	0.19720	N	0.141	0.14763	-0.7710	0.56803	T	0.247	0.61635	T	10	0.005423963	0.00119	T	.	.	.	0.128	0.35103	.	.	0.900307032389	0.89931	0.5040463843694573	0.50326	0.299722776496	0.32340	0.550557017326	0.45935	T	0.268256	0.64036	T	-0.399512	0.02332	T	-0.334971	0.40912	T	0.00942075269797112	0.00121	T	.	.	.	0.06629579	0.14250	0.096777566	0.23008	0.06629579	0.14250	0.096777566	0.23008	-3.213	0.12640	T	.	.	0.065	0.01909	B	.;.;.	.;.;.	1.602473	0.20483	14.77	0.91943365196778426	0.21270	0.78732	0.38889	D	AEFDBI	0.143800	0.26660	N	-0.470793134273499	0.23042	1.234558	-0.423063799552568	0.24321	1.331227	0.581956077750406	0.21578	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.48	4.48	0.53973	1.500000	0.35290	5.610000	0.49052	0.751000	0.87719	0.054000	0.21560	1.000000	0.68203	0.025000	0.12405	0.8506:0.1494:0.0:0.0	11.516	0.49771	444	0.79803	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1191.98	35	chr17	46872579	.	A	G	1191.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=793;ExcessHet=0.0000;FS=0.831;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.19;ReadPosRankSum=1.52;SOR=0.594	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1103	20	0	1	0
chr17	47523024	47523024	G	C	exonic	NPEPPS	.	nonsynonymous SNV	NPEPPS:NM_001330257:exon1:c.G38C:p.C13S,	.	.	435	1085	1	1	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.81	T	0.003	B	0.012	B	.	.	1.000	N	.	.	5.12	T	-0.913	T	0.010	T	0.136	2.150	13.15	1.75	0.390	1.566	5.284	0.032	0.00212036488721	.	0.000798722	0.0005	0.0054	0	0	.	0.0004	0.0089	0.0003	0.0002305	6	26028	rs533101800	0.0005	0.0005	0.0005	0.0005	0.0125	0.0005	0.0004	0.0100	0.0091	0.0005	0.0010	8.551e-05	0	0	0.0125	0.0004	0.0011	0.0004	0.0006	0.0006	0.0006	0.0006	0.0020	0.0005	0.0005	0.0014	0.0012	0.0003	0	0.0020	0	0	0	0.0034	0.0006	0.0048	0.0004	0.729	0.91255	T	0.598	0.07999	T	0.003	0.11197	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	.	.	.	3.03	0.08898	T	0.06	0.06253	N	0.481	0.51583	-0.9130	0.46480	T	0.010	0.03537	T	8	0.0056868196	0.00126	T	0.00212	0.03935	T	0.032	0.07718	0.548	0.66296	0.043077524339	0.03247	.	.	.	.	.	.	.	.	.	.	-0.54754	0.00302	T	-0.641063	0.09592	T	0.00675132493633832	0.00076	T	0.350665	0.07816	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.24498	B	.;.	.;.	1.157752	0.15464	11.87	0.92717388983502591	0.22214	0.22695	0.21833	N	AEFGI	0.061951	0.11880	N	-0.991326959619409	0.08788	0.4134012	-0.986489555107943	0.10088	0.5059122	7.87968145414547E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.77	1.75	0.23707	1.532000	0.35634	5.912000	0.51036	0.488000	0.22294	0.564000	0.27457	1.000000	0.68203	0.288000	0.24212	0.1166:0.2096:0.6738:0.0	5.284	0.15002	803	0.44167	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1206.98	41	chr17	47523024	.	G	C	1206.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.97;DP=889;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.51;MQRankSum=-2.640e-01;QD=12.98;ReadPosRankSum=-2.350e-01;SOR=0.612	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr17	47698706	47698706	C	G	exonic	TBKBP1	.	nonsynonymous SNV	TBKBP1:NM_014726:exon4:c.C565G:p.P189A,	.	.	408	1090	22	2	0	26	0.011786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.3	B	0.098	B	0.070	N	1.000	N	0.69	N	1.14	T	-1.047	T	0.040	T	0.277	-0.044	3.792	2.58	0.744	0.172	8.545	0.019	.	0.0022	0.00978435	0.0138	0.0015	0.0104	0.0064	0.0065	0.0071	0.0214	0.0583	0.0084152	1301	154602	rs201538952	0.0057	0.0057	0.0049	0.0065	0.0377	0.0056	0.0055	0.0366	0.0361	0.0006	0.0056	0.0012	0.0104	0.0045	0.0047	0.0033	0.0066	0.0377	0.0038	0.0039	0.0034	0.0043	0.0307	0.0036	0.0035	0.0267	0.0251	0.0011	0	0.0048	0.0009	0.0031	0.0038	0	0.0036	0.0052	0.0307	0.011	0.55530	D	0.0	0.92824	D	0.3	0.32550	B	0.098	0.30479	B	0.069642	0.21592	N	0.389782	0.999754	0.20482	N	1.7	0.43825	L	1.14	0.38397	T	-2.28	0.50830	N	0.351	0.39254	-1.0472	0.15188	T	0.040	0.17020	T	10	0.0030738413	0.00051	T	.	.	.	0.019	0.03383	.	.	0.386721274199	0.38283	0.1723021641483622	0.17150	0.387575456566	0.40033	0.486798673868	0.36995	T	0.01481	0.22531	T	-0.511324	0.00493	T	-0.477982	0.24662	T	0.0128848568433227	0.00221	T	0.587441	0.37371	T	0.061280027	0.12672	0.05814486	0.10695	0.061280027	0.12671	0.05814486	0.10695	-4.375	0.29216	T	.	.	0.053	0.00368	B	.;.;.	.;.;.	0.658856	0.10271	7.007	0.50192985401815715	0.04341	0.16935	0.19615	N	AEFDGBCI	0.054115	0.09811	N	-0.667588484422364	0.16949	0.8680645	-0.684250225387856	0.17354	0.9224066	0.933293736583335	0.27123	0.631981	0.41245	0	0.858003	0.99906	0	0.779548	0.98927	0	0.683535	0.66460	0	.	.	5.61	2.58	0.30011	0.788000	0.26533	1.686000	0.28041	0.587000	0.30956	0.583000	0.27610	0.954000	0.29108	0.009000	0.08673	0.0:0.7496:0.0:0.2504	8.545	0.32576	399	0.82780	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1010.98	33	chr17	47698706	.	C	G	1010.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.73;DP=780;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=-8.600e-01;SOR=0.775	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1180	20	0	1	0
chr17	47709136	47709136	G	A	exonic	TBKBP1	.	nonsynonymous SNV	TBKBP1:NM_014726:exon8:c.G1403A:p.G468D,	.	.	418	1102	2	0	0	2	0.000906618	.	.	2335028	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.963	D	0.543	P	0.011	N	0.703	D	0.345	N	.	.	-0.974	T	0.068	T	0.337	2.270	13.55	3.32	1.579	2.029	5.754	0.239	.	.	.	0.0015	0	0.0625	0	.	0.0052	0	0	0.0001876	29	154602	rs775256886	0.0006	0.0006	0.0005	0.0006	0.0006	0.0006	0.0005	0.0005	0.0005	0	0.0006	5.543e-05	0	0.0033	0	0.0005	0.0007	0.0006	0.0010	0.0010	0.0010	0.0011	0.0014	0.0009	0.0008	0.0012	0.0011	7.239e-05	0	0.0003	0	0	0.0045	0	0.0014	0.0005	0.0006	0.049	0.39820	D	0.077	0.42436	T	0.963	0.55692	D	0.543	0.48966	P	0.011325	0.29573	N	0.270973	0.703	0.33441	D	1.1	0.28011	L	.	.	.	-1.34	0.33401	N	0.192	0.21056	-0.9736	0.36431	T	0.068	0.27743	T	9	0.0058056414	0.00130	T	.	.	.	0.239	0.54358	.	.	0.42264334713	0.41881	0.4413664330979873	0.44053	0.490862917705	0.47796	0.881544947624	0.94168	D	0.025936	0.19295	T	-0.383429	0.02964	T	-0.32691	0.41813	T	0.0356503401053711	0.02920	T	0.50325	0.15827	T	0.11147152	0.26341	0.13702852	0.32765	0.11147152	0.26341	0.13702852	0.32764	-4.267	0.27712	T	.	.	0.213	0.44201	B	.	.	3.236578	0.44165	21.9	0.9953256374132502	0.69963	0.75411	0.36921	D	AEFDBIJ	0.127172	0.24442	N	-0.00931878525804322	0.41433	2.478175	-0.0283002919643793	0.38443	2.264921	0.999856974192074	0.44174	0.652421	0.48094	0	0.588066	0.40923	0	0.64067	0.45733	0	0.491896	0.07777	0	.	.	3.32	3.32	0.37134	1.861000	0.39078	9.189000	0.79120	0.564000	0.28548	0.962000	0.33725	1.000000	0.68203	0.144000	0.20092	0.2452:0.0:0.7548:0.0	5.754	0.17428	414	0.81871	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	583.98	33	chr17	47709136	.	G	A	583.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.870e-01;DP=637;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.90;ReadPosRankSum=-8.460e-01;SOR=0.751	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1074	20	0	1	0
chr17	47709268	47709268	T	A	exonic	TBKBP1	.	nonsynonymous SNV	TBKBP1:NM_014726:exon8:c.T1535A:p.I512N,	.	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.92	P	0.523	P	0.158	N	0.561	N	0.55	N	.	.	-1.020	T	0.055	T	0.234	3.557	18.14	1.51	0.445	0.479	3.154	0.048	0.0577726133886	.	.	8.3e-05	0	0	0	0	0.0003	0	0	6.5e-06	1	154602	rs775650650	1.021e-05	1.095e-05	7.2e-06	1.329e-05	1.301e-05	5.92e-06	4.63e-06	7.55e-06	5.91e-06	0	0	0	0	0	0	1.301e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.347	0.17640	T	0.92	0.51019	P	0.523	0.48316	P	0.157729	0.17761	N	0.518590	0.561085	0.31256	N	1.525	0.38595	L	.	.	.	-2.11	0.48020	N	0.417	0.45709	-1.0199	0.23747	T	0.055	0.23110	T	9	0.19258901	0.34994	T	0.057773	0.67084	D	0.048	0.13305	0.321	0.30064	0.611931882649	0.60880	0.2996066744678659	0.29873	0.670822488128	0.59432	0.950155496597	0.99754	D	0.028712	0.20737	T	-0.0940495	0.37406	T	-0.372872	0.36554	T	0.248464803750847	0.22804	T	0.583442	0.21195	T	0.35893658	0.57755	0.17780565	0.40407	0.35893658	0.57755	0.17780565	0.40407	-3.844	0.21463	T	.	.	0.412	0.60215	A	.	.	3.256954	0.44521	22.0	0.98953783053908217	0.49189	0.55280	0.29824	D	AEFDBI	0.079897	0.16145	N	-0.0664583012107794	0.38869	2.283316	-0.0624478145588277	0.36957	2.157483	0.998977548699337	0.38110	0.72623	0.87236	0	0.547309	0.14657	0	0.594344	0.31042	0	0.635551	0.53088	0	.	.	3.86	1.51	0.22094	1.244000	0.32381	4.723000	0.44515	0.578000	0.29377	0.122000	0.23210	1.000000	0.68203	0.995000	0.73285	0.1901:0.1859:0.0:0.624	3.154	0.06110	415	0.81806	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1094.98	33	chr17	47709268	.	T	A	1094.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.418e+00;DP=790;ExcessHet=0.0000;FS=11.202;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.64;ReadPosRankSum=-1.683e+00;SOR=0.466	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr17	47838815	47838815	G	C	exonic	SCRN2	.	nonsynonymous SNV	SCRN2:NM_001145023:exon5:c.C748G:p.R250G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.362	B	0.148	B	0.100	N	1.000	N	1.87	L	3.24	T	-1.018	T	0.023	T	0.495	0.798	8.200	2.46	0.285	-0.104	9.619	0.054	0.00691140877535	.	.	8.306e-06	0	0	0	0	1.515e-05	0	0	1.29e-05	2	154602	rs372666717	1.369e-06	1.368e-06	0	2.752e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	0.19639	T	0.325	0.20877	T	0.249	0.31168	B	0.148	0.34065	B	0.100005	0.19907	N	0.557274	0.999999	0.08975	N	2.66	0.77858	M	3.09	0.08371	T	-2.89	0.60665	D	0.252	0.29659	-1.0176	0.24495	T	0.023	0.09787	T	10	0.11259666	0.21126	T	0.006911	0.18289	T	0.054	0.15330	0.505	0.59924	0.0806252709748	0.07271	0.42185594820416483	0.42102	0.418074075645	0.42406	0.235634803772	0.02411	T	0.203331	0.64816	T	-0.167339	0.25639	T	-0.478147	0.24643	T	0.247234091162682	0.22749	T	0.0987901	0.00733	T	0.053224176	0.10041	0.0666519	0.13684	0.053224176	0.10041	0.0666519	0.13683	-4.943	0.36215	T	.	.	0.085	0.11461	B	.;.;.	.;.;.	0.512518	0.08815	5.592	0.95715608471582903	0.27631	0.23603	0.22129	N	AEFDBI	0.332722	0.43204	N	-0.789259014258854	0.13589	0.6705383	-0.844886725200489	0.13411	0.6955277	0.998164125617368	0.36515	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.52	2.46	0.29032	-0.100000	0.10959	0.293000	0.16894	-0.693000	0.04107	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.2236:0.0:0.7764:0.0	9.619	0.38877	320	0.86992	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1483.98	45	chr17	47838815	.	G	C	1483.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.269e+00;DP=910;ExcessHet=0.0000;FS=2.313;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=-3.920e-01;SOR=0.503	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1243	20	0	1	0
chr17	47839462	47839471	CCCAGAGCCT	-	exonic	SCRN2	.	frameshift deletion	SCRN2:NM_001145023:exon4:c.529_538del:p.R177Lfs*16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	903.94	33	chr17	47839461	.	GCCCAGAGCCT	G	903.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=708;ExcessHet=0.0000;FS=4.045;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.74;ReadPosRankSum=0.718;SOR=1.295	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1194	20	0	1	0
chr17	47847984	47847984	T	G	exonic	SP6	.	nonsynonymous SNV	SP6:NM_001258248:exon2:c.A446C:p.Q149P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.03	B	0.004	B	0.001	D	0.987	D	1.04	L	3.0	T	-1.050	T	0.023	T	0.632	2.171	13.22	4.35	1.828	2.162	12.666	0.133	0.0120425842032	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1366176782	4.167e-06	4.788e-06	4.134e-06	4.2e-06	0.0005	1.5e-06	9.9e-07	0.0001	7.697e-05	0	0	0	0	0	0.0005	2.724e-06	0	0	1.315e-05	1.314e-05	1.286e-05	1.346e-05	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.249	0.17183	T	0.311	0.19660	T	0.03	0.20002	B	0.004	0.10090	B	0.000936	0.41028	D	0.000000	0.986599	0.40456	D	0.695	0.17993	N	3.0	0.09167	T	-1.3	0.32590	N	0.182	0.19728	-1.0503	0.14313	T	0.023	0.09741	T	10	0.14483336	0.27481	T	0.012043	0.30251	T	0.133	0.36157	0.275	0.22687	0.745843774664	0.74355	0.470068491341586	0.46925	0.933116055964	0.71916	0.808741509914	0.83299	D	0.125162	0.45068	T	-0.104618	0.35658	T	-0.388053	0.34780	T	0.349636912345886	0.27005	T	0.745725	0.36599	T	0.31800088	0.54470	0.39468765	0.64156	0.31800088	0.54470	0.39468765	0.64156	-2.018	0.03250	T	.	.	0.181	0.39288	B	.;.	.;.	3.214457	0.43774	21.8	0.9667344853464509	0.30672	0.80981	0.40484	D	AEFDBHCI	0.698721	0.65631	D	-0.222907517752408	0.32195	1.813093	-0.0641167960206687	0.36885	2.152401	0.999999936530653	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.503968	0.08637	0	0.584449	0.35598	0	.	.	4.35	4.35	0.51454	3.167000	0.50493	6.155000	0.54254	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	12.666	0.56206	324	0.86790	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	676.98	33	chr17	47847984	.	T	G	676.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.280e-01;DP=775;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=-1.248e+00;SOR=0.730	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,103,1093	20	0	1	0
chr17	47974009	47974009	G	T	exonic	CDK5RAP3	.	nonsynonymous SNV	CDK5RAP3:NM_001278197:exon4:c.G338T:p.R113L	.	.	424	1088	10	0	0	10	0.00457457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	1.0	D	1.0	D	0.000	D	1.000	D	3.03	M	0.76	T	-0.388	T	0.332	T	0.932	5.013	29.5	4.56	1.342	9.231	13.141	0.536	.	.	0.0105831	0.0050	0.0002	0.0003	0	0	5.995e-05	0.0044	0.0360	0.0044631	690	154602	rs201973580	0.0021	0.0021	0.0012	0.0031	0.0339	0.0021	0.0020	0.0328	0.0324	0.0001	2.236e-05	0	2.519e-05	0	0.0021	2.519e-05	0.0021	0.0339	0.0013	0.0013	0.0007	0.0020	0.0414	0.0012	0.0011	0.0367	0.0349	7.215e-05	0	0	0	0	0	0	0	0	0.0414	0.004	0.65419	D	0.167	0.30729	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.335	0.90898	M	0.76	0.49919	T	-5.21	0.83763	D	0.919	0.92317	-0.3884	0.72392	T	0.332	0.69927	T	10	0.014095038	0.00297	T	.	.	.	0.536	0.80545	.	.	0.824481828275	0.82282	0.555698876831675	0.55496	0.533885050813	0.50818	0.693994045258	0.66279	T	0.148647	0.48729	T	-0.0271763	0.47826	T	0.213949	0.83868	D	0.182294480565301	0.19379	T	0.961004	0.92360	D	0.604937	0.72956	0.45090437	0.68049	0.604937	0.72957	0.45090437	0.68049	-6.093	0.51372	T	.	.	0.696	0.73696	P	.;.;.;.;.	.;.;.;.;.	5.428779	0.90793	31	0.99851110760734285	0.93013	0.99310	0.94309	D	AEFDBI	0.920314	0.89212	D	0.796813600121588	0.85907	8.718294	0.725394114312064	0.84305	8.255621	0.99999999227298	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	4.56	0.55644	9.389000	0.96610	9.923000	0.82520	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0786:0.0:0.9214:0.0	13.141	0.58851	706	0.57215	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2320.08	36	chr17	47974009	.	G	T	2320.08	.	AC=2;AF=0.048;AN=42;DP=793;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.74;SOR=1.108	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	1	0	0
chr17	48121356	48121356	C	A	exonic	SNX11	.	nonsynonymous SNV	SNX11:NM_001330320:exon7:c.C637A:p.P213T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.001	B	0.001	B	0.519	N	1.000	N	1.39	L	-0.11	T	-0.942	T	0.149	T	0.222	2.276	13.57	1.38	0.459	0.170	3.471	0.043	0.0159330116532	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.72154	D	0.047	0.48855	D	0.0	0.02946	B	0.001	0.04355	B	0.519184	0.11761	N	0.791293	1	0.08975	N	0.83	0.20963	L	-0.12	0.64630	T	-2.48	0.54059	N	0.051	0.07535	-0.9422	0.42266	T	0.149	0.47646	T	10	0.05349794	0.05550	T	0.015933	0.36930	T	0.043	0.11576	0.245	0.17984	0.484037581386	0.48037	0.20804343813926002	0.20720	0.119574652239	0.13463	0.277193725109	0.07105	T	0.018771	0.15074	T	-0.154878	0.27551	T	-0.460248	0.26572	T	0.0746949621828903	0.09294	T	0.636336	0.25296	T	0.056769192	0.11213	0.04533935	0.06077	0.056769192	0.11213	0.04533935	0.06077	-4.775	0.34298	T	.	.	0.086	0.10449	B	.;.;.;.;.;.	.;.;.;.;.;.	1.571688	0.20120	14.60	0.88267484273534103	0.17844	0.12360	0.17221	N	AEFBCI	0.058696	0.11030	N	-0.874749041110592	0.11446	0.5523798	-0.865441052805161	0.12917	0.6672158	1.15678767451762E-4	0.05269	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.16	1.38	0.21262	0.184000	0.16748	-0.242000	0.10582	-0.182000	0.10109	0.001000	0.13787	0.000000	0.08366	0.702000	0.34203	0.1396:0.5611:0.1359:0.1634	3.471	0.07134	831	0.39019	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	183.11	33	chr17	48121356	.	C	A	183.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.254e+00;DP=1038;ExcessHet=0.1072;FS=125.490;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.50;ReadPosRankSum=2.61;SOR=7.167	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1184	19	0	2	0
chr17	48121357	48121357	C	A	exonic	SNX11	.	nonsynonymous SNV	SNX11:NM_001330320:exon7:c.C638A:p.P213H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.043	B	0.01	B	0.519	N	1.000	N	1.39	L	-0.16	T	-0.860	T	0.190	T	0.245	3.061	16.22	4.07	1.609	0.183	11.497	0.103	0.0380915237209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.006	0.70582	D	0.003	0.11197	B	0.006	0.12133	B	0.519184	0.11761	N	0.791293	1	0.08975	N	1.525	0.38595	L	-0.16	0.65378	T	-1.8	0.42384	N	0.072	0.07811	-0.8604	0.51234	T	0.190	0.54108	T	10	0.08495718	0.14292	T	0.038092	0.58018	D	0.103	0.29403	0.238	0.16912	0.628906646486	0.62587	0.19977760881024514	0.19894	0.348915321359	0.36754	0.285802483559	0.08314	T	0.020125	0.15899	T	-0.0926007	0.37648	T	-0.370791	0.36796	T	0.627367913722992	0.37509	D	0.654835	0.26791	T	0.122885406	0.28868	0.19311786	0.42863	0.122885406	0.28867	0.19311786	0.42862	-5.551	0.42342	T	.	.	0.126	0.26731	B	.;.;.;.;.;.	.;.;.;.;.;.	2.348791	0.30108	18.34	0.98115172472137657	0.38383	0.09630	0.15343	N	AEFBCI	0.042106	0.06491	N	-0.555678256585635	0.20306	1.069478	-0.525915723664836	0.21451	1.160465	0.00168031574263526	0.08770	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.16	4.07	0.46726	0.201000	0.17074	1.213000	0.24921	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.687000	0.33748	0.3268:0.6732:0.0:0.0	11.497	0.49664	831	0.39019	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	183.11	33	chr17	48121357	.	C	A	183.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-8.150e-01;DP=1039;ExcessHet=0.1072;FS=125.490;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.50;ReadPosRankSum=2.58;SOR=7.167	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1184	19	0	2	0
chr17	48578049	48578049	G	A	exonic	HOXB4	.	nonsynonymous SNV	HOXB4:NM_024015:exon1:c.C271T:p.P91S,	.	.	464	1055	3	0	0	3	0.00141978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.01	B	0.002	B	0.368	N	1.000	D	1.11	L	0.27	T	-0.966	T	0.126	T	0.237	0.827	8.333	1.26	0.385	3.025	3.280	0.115	.	.	0.00279553	0.0252	0	0.0263	0	0.0357	0.0351	0	0	0.0012031	186	154602	rs201123784	0.0107	0.0085	0.0108	0.0106	0.0117	0.0105	0.0105	0.0116	0.0115	0.0014	0.0029	0.0013	3.838e-05	0.0123	0.0010	0.0117	0.0076	0.0025	0.0063	0.0064	0.0062	0.0065	0.0100	0.0060	0.0059	0.0093	0.0091	0.0016	0	0.0042	0.0009	0	0.0133	0	0.0100	0.0029	0.0013	0.171	0.22746	T	0.114	0.36765	T	0.01	0.15535	B	0.002	0.06944	B	0.368085	0.04345	N	1.518660	1	0.81001	D	0.85	0.21244	L	0.27	0.59176	T	-1.88	0.43906	N	0.23	0.25867	-0.9662	0.37974	T	0.126	0.43132	T	10	0.0060742795	0.00136	T	.	.	.	0.115	0.32236	.	.	.	.	0.4654450868570817	0.46463	0.837374831212	0.67867	0.92933177948	0.98949	D	0.358	0.72471	T	-0.460204	0.00980	T	-0.41423	0.31738	T	0.0633194170638443	0.07681	T	0.373463	0.08871	T	0.042769287	0.06547	0.09616878	0.22838	0.042769287	0.06546	0.09616878	0.22837	-4.458	0.30335	T	.	.	0.077	0.06250	B	.	.	3.269957	0.44761	22.0	0.9644697570870423	0.29851	0.73821	0.36108	D	AEFDBHCI	0.591215	0.58740	D	-0.516723458312194	0.21539	1.143832	-0.424844734458476	0.24271	1.328144	0.999999994900721	0.74766	0.59774	0.34471	0	0.56911	0.20461	1	0.596491	0.31596	0	0.492483	0.08430	1	.	.	3.38	1.26	0.20534	4.416000	0.59567	7.747000	0.68085	0.491000	0.22372	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.145:0.0:0.5947:0.2603	3.280	0.06504	654	0.62520	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	597.02	9	chr17	48578049	.	G	A	597.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.06;DP=303;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=24.88;ReadPosRankSum=-2.670e-01;SOR=0.473	GT:AD:DP:GQ:PL	0/1:6,18:24:99:611,0,167	20	0	1	0
chr17	48610686	48610686	T	C	exonic	HOXB7	.	nonsynonymous SNV	HOXB7:NM_004502:exon1:c.A233G:p.Y78C,	.	.	426	1086	10	0	0	10	0.00458295	.	.	2811459	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.999	D	0.894	P	0.000	D	0.999	D	3.21	M	1.13	T	-0.451	T	0.265	T	0.678	3.633	18.48	4.27	1.795	3.644	8.782	0.302	0.0653817814226	0.0013	0.000998403	0.0047	0.0030	0.0006	0	0.0012	0.0081	0.0037	0.0020	0.0013713	212	154602	rs35657716	0.0031	0.0031	0.0032	0.0031	0.0038	0.0031	0.0030	0.0037	0.0036	0.0004	0.0010	0.0002	0.0001	0.0002	0.0020	0.0038	0.0027	0.0016	0.0019	0.0019	0.0020	0.0018	0.0033	0.0017	0.0016	0.0030	0.0028	0.0008	0	0.0010	0	0	9.42e-05	0.0034	0.0033	0.0014	0.0008	0.002	0.72154	D	0.006	0.70582	D	0.999	0.77913	D	0.894	0.63417	P	0.000000	0.84330	D	0.000000	0.999302	0.46608	D	2.24	0.63355	M	1.13	0.38556	T	-4.28	0.76334	D	0.59	0.61002	-0.4508	0.70374	T	0.265	0.63674	T	10	0.012849569	0.00275	T	0.065382	0.69562	D	0.302	0.62290	.	.	0.699295303354	0.69669	0.6690358537971135	0.66841	1.65912826013	0.89650	0.813147723675	0.83975	D	0.642447	0.89052	D	-0.25629	0.13338	T	-0.142392	0.59910	T	0.0333295063553578	0.02526	T	0.885811	0.61165	D	0.42727134	0.62573	0.43234405	0.66823	0.42727134	0.62574	0.43234405	0.66823	-4.735	0.33824	T	.	.	0.109	0.20896	B	.	.	5.039181	0.83867	28.2	0.99452612609294111	0.65376	0.98722	0.86019	D	AEFDGBHCI	0.780208	0.71217	D	0.65692249830907	0.76820	6.55704	0.561607875841364	0.72209	5.773836	0.99999999351538	0.74766	0.437478	0.07067	0	0.484254	0.07192	0	0.606814	0.37721	0	0.372554	0.06265	0	.	.	4.27	4.27	0.50009	3.862000	0.55721	7.815000	0.69558	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1683:0.0:0.0:0.8316	8.782	0.33955	656	0.62345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	862.98	41	chr17	48610686	.	T	C	862.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.68;DP=751;ExcessHet=0.0000;FS=1.039;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.41;ReadPosRankSum=-5.440e-01;SOR=0.922	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,958	20	0	1	0
chr17	48852620	48852620	A	G	exonic	CALCOCO2	.	nonsynonymous SNV	CALCOCO2:NM_001261393:exon7:c.A691G:p.T231A	.	.	439	1081	1	1	0	3	0.00138568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.549	P	0.32	B	0.138	N	1.000	N	1.445	L	3.44	T	-1.057	T	0.042	T	0.146	2.603	14.67	4.25	2.013	0.767	6.321	0.070	0.00442720637089	0.0038	0.000399361	0.0025	0.0012	0.0023	0	0.0011	0.0036	0.0022	0.0007	0.0025032	387	154602	rs17849804	0.0038	0.0039	0.0039	0.0038	0.0046	0.0038	0.0037	0.0045	0.0045	0.0007	0.0027	0.0013	0	0.0006	0	0.0046	0.0028	0.0010	0.0027	0.0027	0.0026	0.0027	0.0041	0.0024	0.0024	0.0037	0.0036	0.0009	0.0033	0.0038	0.0009	0	0.0009	0.0034	0.0041	0.0028	0.0006	0.04	0.42487	D	0.512	0.23914	T	0.19	0.29379	B	0.078	0.28627	B	0.137787	0.18401	N	0.445427	1	0.08975	N	1.905	0.50856	L	2.6	0.21291	T	-1.3	0.49684	N	0.051	0.06854	-1.0566	0.12621	T	0.042	0.18035	T	10	0.0062663257	0.00141	T	0.004427	0.10844	T	0.070	0.20419	.	.	0.408579541211	0.40476	0.07096164483218659	0.07033	0.280342717543	0.30512	0.359655410051	0.19336	T	0.001765	0.01186	T	-0.550644	0.00289	T	-0.562923	0.16103	T	0.016661089034933	0.00425	T	0.634936	0.24909	T	0.05571563	0.10867	0.06638108	0.13589	0.05571563	0.10866	0.06638108	0.13588	-3.607	0.18437	T	.	.	0.099	0.17615	B	.;.;.;.;.;.	.;.;.;.;.;.	1.695470	0.21600	15.27	0.99543535012934059	0.70648	0.17642	0.19925	N	AEFGBI	0.160782	0.28676	N	-0.383259618669213	0.26065	1.419702	-0.341100121327739	0.26785	1.48178	0.00531841588694961	0.10898	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.33	4.25	0.49658	0.772000	0.26309	1.972000	0.29992	0.756000	0.94297	0.001000	0.13787	0.030000	0.21233	0.998000	0.85391	0.7538:0.1618:0.0844:0.0	6.321	0.20421	740	0.53092	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1358.98	39	chr17	48852620	.	A	G	1358.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.280e-01;DP=802;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=-4.280e-01;SOR=0.679	GT:AD:DP:GQ:PL	0/1:44,57:101:99:1373,0,1058	20	0	1	0
chr17	48862926	48862926	A	G	exonic	CALCOCO2	.	nonsynonymous SNV	CALCOCO2:NM_001261393:exon12:c.A1136G:p.N379S	.	.	.	.	.	.	.	.	.	.	.	2758038	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.22	T	0.008	B	0.004	B	0.686	N	1.000	N	1.795	L	2.79	T	-0.960	T	0.029	T	0.041	2.650	14.82	-0.731	-0.340	0.045	0.441	0.043	0.00159790571612	.	.	3.295e-05	0	0	0.0001	0	2.997e-05	0	6.056e-05	2.59e-05	4	154602	rs759882056	1.505e-05	1.505e-05	1.498e-05	1.513e-05	5.039e-05	9.85e-06	8.42e-06	9.31e-06	7.61e-06	0	0	0	5.039e-05	0	0	1.529e-05	0	3.478e-05	6.57e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.317	0.22053	T	0.458	0.12668	T	0.002	0.09854	B	0.002	0.06944	B	0.686460	0.06121	N	1.175380	1	0.08975	N	1.5	0.37844	L	2.79	0.13673	T	-0.7	0.22508	N	0.066	0.18239	-0.9598	0.39218	T	0.029	0.12585	T	10	0.096156895	0.17226	T	0.001598	0.02574	T	0.043	0.11576	.	.	0.0551355673512	0.04727	0.2765344905335568	0.27566	0.185605157575	0.20870	0.311300754547	0.12104	T	0.001744	0.01167	T	-0.487263	0.00673	T	-0.768568	0.02815	T	0.0561791285872459	0.06554	T	0.757524	0.40135	T	0.060904104	0.12551	0.03229602	0.01943	0.060904104	0.12551	0.03229602	0.01942	-0.956	0.01561	T	.	.	0.067	0.02370	B	.;.;.;.;.	.;.;.;.;.	0.605888	0.09744	6.511	0.93868917023094822	0.23879	0.03666	0.08928	N	AEFGBI	0.197825	0.32473	N	-0.821025118231153	0.12774	0.6248241	-0.855331508022767	0.13160	0.6811458	4.2355159250556E-4	0.06935	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.69	-0.731	0.10589	0.046000	0.13919	-0.716000	0.07727	-0.122000	0.13826	0.067000	0.21986	0.000000	0.08366	0.706000	0.34326	0.3936:0.1838:0.2442:0.1785	0.441	0.00453	737	0.53483	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3930.08	35	chr17	48862926	.	A	G	3930.08	.	AC=2;AF=0.048;AN=42;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.23;SOR=0.724	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1122	20	1	0	0
chr17	49049420	49049425	CCAGGC	-	exonic	IGF2BP1	.	nonframeshift deletion	IGF2BP1:NM_001160423:exon13:c.1293_1298del:p.Q434_A435del	.	.	427	1086	9	0	0	9	0.00412655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0004	9.766e-05	8.718e-05	0	0.0002	0.0003	0	0.0011	3.84e-05	1	26028	rs761658543	0.0003	0.0003	0.0003	0.0003	0.0011	0.0003	0.0003	0.0009	0.0008	0	8.944e-05	0.0011	0	5.617e-05	0.0009	0.0003	0.0005	0.0011	0.0004	0.0004	0.0003	0.0004	0.0017	0.0003	0.0003	0.0008	0.0006	7.216e-05	0	0.0003	0.0017	0	0	0	0.0005	0.0009	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1740.94	35	chr17	49049419	.	ACCAGGC	A	1740.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.750e-01;DP=790;ExcessHet=0.0000;FS=1.951;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.32;ReadPosRankSum=-5.690e-01;SOR=0.459	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr17	49152882	49152882	C	-	exonic	B4GALNT2	.	frameshift deletion	B4GALNT2:NM_001159387:exon4:c.436delC:p.L147Cfs*23	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.057e-06	2.052e-06	1.364e-06	2.758e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	9.006e-07	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3173.94	33	chr17	49152881	.	GC	G	3173.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.058e+00;DP=936;ExcessHet=0.0000;FS=0.486;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=0.949;SOR=0.661	GT:AD:DP:GQ:PL	0/1:113,113:226:99:3188,0,3103	20	0	1	0
chr17	49298642	49298642	T	A	exonic	ZNF652	.	nonsynonymous SNV	ZNF652:NM_001145365:exon6:c.A1592T:p.N531I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.119	B	0.047	B	0.629	N	1.000	N	0.69	N	-1.14	T	-0.915	T	0.245	T	0.317	2.181	13.25	-4.99	-0.790	-0.161	14.709	0.247	0.110898748576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.047	0.48855	D	0.119	0.26641	B	0.047	0.24832	B	0.628956	0.10706	N	0.854145	1	0.08975	N	1.39	0.34934	L	-1.14	0.77843	T	-1.38	0.34198	N	0.316	0.35727	-0.9148	0.46246	T	0.245	0.61401	T	10	0.09635797	0.17276	T	0.110899	0.78846	D	0.247	0.55478	0.288	0.24761	0.215239754934	0.21150	0.11187116051509507	0.11116	0.481669543956	0.47144	0.307570695877	0.11540	T	0.034118	0.23193	T	-0.0419022	0.45667	T	-0.297966	0.44940	T	0.183865349430803	0.19475	T	0.770023	0.39993	T	0.10622961	0.25117	0.09297546	0.21938	0.10622961	0.25117	0.09297546	0.21937	-2.606	0.06549	T	.	.	0.189	0.40634	B	.;.	.;.	0.977576	0.13551	10.07	0.96608552885981636	0.30434	0.16126	0.19243	N	AEDBHCI	0.070859	0.14083	N	-0.986388903444089	0.08894	0.4187777	-1.03548526934251	0.09011	0.4460282	0.782989949733095	0.23878	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.84	-4.99	0.02785	0.040000	0.13791	-0.498000	0.08819	0.595000	0.32841	0.004000	0.16614	0.000000	0.08366	0.999000	0.91618	0.0:0.1779:0.0:0.8221	14.709	0.68826	519	0.74455	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1129.98	37	chr17	49298642	.	T	A	1129.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=788;ExcessHet=0.0000;FS=0.915;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=0.625;SOR=0.895	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,112,1315	20	0	1	0
chr17	49578668	49578668	C	G	exonic	NXPH3	.	nonsynonymous SNV	NXPH3:NM_007225:exon2:c.C127G:p.R43G,	.	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.037	B	0.016	B	0.002	N	0.725	N	0	N	.	.	-1.055	T	0.051	T	0.53	1.988	12.60	4.69	2.435	1.652	9.973	0.134	0.00297666885769	0.0032	0.000199681	0.0030	0.0014	0.0014	0	0.0015	0.0047	0.0012	0.0002	0.0031047	480	154602	rs147028083	0.0049	0.0049	0.0050	0.0048	0.0062	0.0048	0.0048	0.0060	0.0060	0.0005	0.0017	0.0015	0	0.0015	0.0005	0.0062	0.0024	9.324e-05	0.0031	0.0031	0.0034	0.0027	0.0054	0.0028	0.0027	0.0049	0.0048	0.0010	0.0143	0.0014	0.0023	0	0.0008	0	0.0054	0.0014	0	0.064	0.53172	T	0.361	0.46406	T	0.001	0.20876	B	0.001	0.17743	B	0.001744	0.38106	N	0.151513	0.725468	0.29881	N	0.805	0.20218	L	.	.	.	-0.44	0.14588	N	0.084	0.17691	-1.0549	0.13066	T	0.051	0.21611	T	9	0.0032102168	0.00054	T	0.002977	0.06369	T	0.134	0.36365	.	.	0.043077524339	0.03247	0.5380374425062754	0.53728	0.411987167301	0.41947	0.550511360168	0.45929	T	0.153335	0.49413	T	-0.370618	0.03563	T	-0.295748	0.45171	T	0.0180753720466314	0.00530	T	0.794021	0.44558	T	0.12601724	0.29527	0.09061094	0.21259	0.12601724	0.29527	0.09061094	0.21258	-3.583	0.17611	T	.	.	0.113	0.28664	B	.;.	.;.	4.174311	0.62793	24.5	0.9951296899144596	0.68739	0.91792	0.54272	D	AEFDGBI	0.300498	0.40927	N	-0.314539512972346	0.28595	1.57852	-0.0990234223696222	0.35432	2.049772	0.999854983581166	0.44174	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.69	4.69	0.58546	-0.046000	0.11937	7.656000	0.63963	0.597000	0.34315	0.000000	0.06391	1.000000	0.68203	0.963000	0.52385	0.1518:0.7008:0.1474:0.0	9.973	0.40934	868	0.31772	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	618.98	34	chr17	49578668	.	C	G	618.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.140;DP=768;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.10;ReadPosRankSum=-1.656e+00;SOR=0.674	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1168	20	0	1	0
chr17	49707012	49707012	G	C	exonic	SLC35B1	.	nonsynonymous SNV	SLC35B1:NM_005827:exon2:c.C161G:p.T54S,	.	.	431	1058	33	0	0	33	0.015356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	T	0.002	B	0.004	B	0.000	D	0.993	D	-0.245	N	1.55	T	-1.070	T	0.023	T	0.719	0.599	7.228	4.48	2.294	7.292	13.851	0.254	.	0.0062	0.00539137	0.0109	0.0018	0.0041	0.0001	0.0290	0.0117	0.0121	0.0165	0.0101422	1568	154602	rs142518431	0.0097	0.0098	0.0093	0.0101	0.0177	0.0096	0.0095	0.0169	0.0166	0.0011	0.0048	0.0199	5.038e-05	0.0252	0.0132	0.0089	0.0099	0.0177	0.0084	0.0084	0.0077	0.0092	0.0149	0.0080	0.0079	0.0121	0.0111	0.0017	0	0.0063	0.0225	0.0002	0.0246	0.0136	0.0100	0.0081	0.0149	0.603	0.05584	T	0.759	0.04652	T	0.0	0.02946	B	0.004	0.10090	B	0.000009	0.62929	D	0.109197	0.993073	0.41828	D	-0.44	0.02835	N	1.55	0.29866	T	0.42	0.03352	N	.	.	-1.0703	0.09348	T	0.023	0.09696	T	10	0.0074454844	0.00169	T	.	.	.	0.254	0.56428	0.478	0.55663	.	.	0.513224448334425	0.51244	0.253413253526	0.27906	0.680591702461	0.64353	T	0.01522	0.12811	T	-0.344412	0.05088	T	-0.254526	0.49370	T	0.0135447190752144	0.00249	T	0.829117	0.55914	T	0.13029192	0.30405	0.15126616	0.35639	0.13029192	0.30405	0.15126616	0.35638	-5.308	0.40022	T	.	.	0.136	0.40666	B	.;.;.;.;.	.;.;.;.;.	3.131060	0.42311	21.5	0.86187237248678539	0.16370	0.97835	0.77484	D	AEFB	0.932008	0.92170	D	-0.276935970065927	0.30041	1.671435	-0.031856219340626	0.38284	2.25339	0.999999996993668	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	4.48	4.48	0.53973	7.140000	0.76912	11.869000	0.98523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1541:0.8459:0.0	13.851	0.62994	761	0.50382	.;.;.;.;.	.	.	XYLT2	Esophagus_Muscularis	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4208.11	33	chr17	49707012	.	G	C	4208.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.18;DP=999;ExcessHet=0.1072;FS=1.271;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=0.415;SOR=0.639	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1313	19	0	2	0
chr17	50072086	50072086	C	T	exonic	ITGA3	.	nonsynonymous SNV	ITGA3:NM_002204:exon7:c.C1060T:p.P354S,	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, Autosomal recessive	.	1	1518	3	0	0	3	0.000987167	.	.	3212053	ITGA3-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.66	T	0.768	P	0.342	B	0.037	N	0.629	D	0.175	N	-0.41	T	-0.888	T	0.121	T	0.164	0.768	8.062	3.34	1.288	1.571	7.437	0.053	0.0520907620002	.	0.000399361	0.0002	0	0	0	0	7.496e-05	0	0.0013	0.0001876	29	154602	rs549115710	0.0001	0.0001	8.167e-05	0.0002	0.0014	0.0001	0.0001	0.0012	0.0011	0	0	0	0	1.872e-05	0	7.554e-05	6.623e-05	0.0014	4.599e-05	4.593e-05	2.57e-05	6.72e-05	0.0010	2.109e-05	1.527e-05	0.0004	0.0003	0	0	0	0	0	0	0	2.941e-05	0	0.0010	0.342	0.12673	T	0.731	0.05146	T	0.768	0.43819	P	0.342	0.42471	B	0.037265	0.24422	N	0.450290	0.629416	0.32776	D	0.005	0.07933	N	-0.41	0.69413	T	0.61	0.02480	N	0.133	0.12913	-0.8884	0.49071	T	0.121	0.42101	T	10	0.008593142	0.00195	T	0.052091	0.64931	D	0.053	0.14996	.	.	0.696184535837	0.69356	0.596766181027464	0.59607	0.382024845408	0.39543	0.459121227264	0.33189	T	0.116471	0.43584	T	-0.427614	0.01533	T	-0.422393	0.30800	T	0.0343761025652409	0.02701	T	0.873613	0.58243	D	0.036460534	0.04490	0.052904405	0.08807	0.046752017	0.07877	0.050165743	0.07817	-7.588	0.58227	D	0.10639897163662868	0.08547	0.088	0.15877	B	.;.	.;.	2.767149	0.36316	20.2	0.91086407548510084	0.20339	0.89713	0.50355	D	AEFGBCI	0.392645	0.47061	N	-0.168845600040356	0.34436	1.965506	-0.0465650852282931	0.37640	2.206542	0.999582797603416	0.40607	0.706298	0.61202	0	0.601575	0.49859	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.42	3.34	0.37357	0.720000	0.25566	4.948000	0.46261	0.599000	0.40250	0.133000	0.23395	1.000000	0.68203	0.989000	0.64315	0.3446:0.5747:0.0:0.0807	7.437	0.26330	827	0.39843	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1348.98	40	chr17	50072086	.	C	T	1348.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.460e-01;DP=808;ExcessHet=0.0000;FS=0.740;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.36;ReadPosRankSum=0.839;SOR=0.790	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	20	0	1	0
chr17	50097448	50097448	-	GGGGG	exonic	PDK2	.	frameshift insertion	PDK2:NM_001199900:exon2:c.144_145insGGGGG:p.S49Gfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04167	37.34	94	chr17	50097448	.	C	CGGGGG	37.34	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-4.701e+00;DP=2347;ExcessHet=0.0000;FS=61.776;InbreedingCoeff=-0.1599;MLEAC=2;MLEAF=0.083;MQ=60.00;MQRankSum=0.00;QD=0.21;ReadPosRankSum=1.66;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:142,0:142:0:.:.:0,0,2902	11	0	1	9
chr17	50149421	50149421	C	G	exonic	PPP1R9B	.	nonsynonymous SNV	PPP1R9B:NM_032595:exon1:c.G1093C:p.G365R,	.	.	419	1083	18	2	0	22	0.0100548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00339457	0.0035	0.0006	0.0013	0	0	0.0027	0.0081	0.0118	0.0027167	420	154602	rs200456485	0.0035	0.0035	0.0033	0.0037	0.0101	0.0034	0.0034	0.0095	0.0093	0.0004	0.0012	0.0115	7.565e-05	0.0002	0.0096	0.0032	0.0039	0.0101	0.0023	0.0023	0.0023	0.0024	0.0114	0.0021	0.0021	0.0090	0.0081	0.0005	0	0.0008	0.0121	0	0.0002	0.0034	0.0032	0.0024	0.0114	.	.	.	0.526	0.10245	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.18239	.	.	.	.	.	.	.	0.0042975843	0.00086	T	.	.	.	.	.	.	.	0.487027601959	0.48335	0.12154678572625668	0.12081	.	.	0.605843245983	0.53729	T	0.009803	0.08903	T	-0.549959	0.00292	T	-0.55336	0.17005	T	.	.	.	0.561144	0.19645	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.32104	B	.	.	2.602806	0.33792	19.44	0.9130820026508909	0.20568	0.07204	0.13229	N	AEFDBHCI	0.162836	0.28905	N	.	.	.	.	.	.	0.999999632666516	0.74766	0.206829	0.04106	0	0.098	0.03038	0	0.209056	0.04548	0	0.185629	0.04193	2	.	.	4.8	2.68	0.30839	1.359000	0.33717	3.870000	0.40183	0.597000	0.34315	0.003000	0.16062	0.919000	0.28284	0.994000	0.71098	0.2886:0.6226:0.0:0.0888	6.908	0.23501	831	0.39019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	761.98	37	chr17	50149421	.	C	G	761.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.553e+00;DP=776;ExcessHet=0.0000;FS=3.235;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.73;ReadPosRankSum=-2.300e-02;SOR=0.399	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1074	20	0	1	0
chr17	50150123	50150123	A	T	exonic	PPP1R9B	.	nonsynonymous SNV	PPP1R9B:NM_032595:exon1:c.T391A:p.S131T,	.	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.503884576113	.	.	0.0006	0	0	0	0	0	0	0.0008	1.94e-05	3	154602	rs763277337	3.745e-05	3.762e-05	3.289e-05	4.217e-05	0.0004	2.886e-05	2.586e-05	0.0003	0.0002	0	6.255e-05	0	0	0	0.0003	1.963e-05	3.871e-05	0.0004	1.975e-05	1.969e-05	0	4.039e-05	0.0004	5.25e-06	2.46e-06	7.282e-05	3.026e-05	0	0	0	0	0	0	0	1.473e-05	0	0.0004	.	.	.	0.173	0.30143	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.12484	.	.	.	.	.	.	.	0.05236152	0.05258	T	0.503885	0.95195	D	.	.	.	.	0.4517682171	0.44797	0.19809050560711078	0.19726	.	.	0.906659841537	0.97145	D	0.014456	0.12303	T	-0.333467	0.05853	T	-0.37184	0.36675	T	.	.	.	0.369963	0.08710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.03162	B	.	.	2.707942	0.35391	19.88	0.94787252316435278	0.25523	0.69606	0.34255	D	ALL	0.113759	0.22432	N	.	.	.	.	.	.	0.999999999996797	0.74766	0.162408	0.03677	1	0.098	0.03038	0	0.132232	0.03703	1	0.088244	0.02422	0	.	.	2.91	1.73	0.23565	0.677000	0.24942	4.031000	0.41338	0.551000	0.28136	0.156000	0.23741	1.000000	0.68203	0.995000	0.73285	0.6235:0.0:0.3765:0.0	2.863	0.05248	835	0.38313	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	502.98	30	chr17	50150123	.	A	T	502.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.252e+00;DP=665;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.79;ReadPosRankSum=1.64;SOR=0.874	GT:AD:DP:GQ:PL	0/0:33,0:33:90:0,90,1350	20	0	1	0
chr17	50194035	50194035	C	T	exonic	COL1A1	.	nonsynonymous SNV	COL1A1:NM_000088:exon25:c.G1675A:p.A559T,	Caffey disease, Autosomal dominant;Ehlers-Danlos syndrome, classic, Autosomal dominant;Ehlers-Danlos syndrome, type VIIA, Autosomal dominant;Osteogenesis imperfecta, type I, Autosomal dominant;Osteogenesis imperfecta, type II, Autosomal dominant;Osteogenesis imperfecta, type III, Autosomal dominant;Osteogenesis imperfecta, type IV, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	928380	not_provided|Osteogenesis_imperfecta_type_I|Osteogenesis_imperfecta	MedGen:C3661900|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200,Orphanet:216796,Orphanet:666|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.11	T	0.286	B	0.055	B	0.000	D	0.943	D	0.655	N	-3.25	D	0.196	D	0.599	D	0.302	3.033	16.12	4.43	2.309	0.089	11.940	0.266	0.0936718259648	.	0.000199681	9.096e-05	0	0.0002	0.0002	0	4.513e-05	0.0011	0.0002	7.76e-05	12	154602	rs558173513	4.31e-05	4.378e-05	3.268e-05	5.364e-05	0.0004	3.443e-05	3.129e-05	0.0003	0.0002	0	0.0001	0	2.519e-05	1.874e-05	0	1.979e-05	3.312e-05	0.0004	3.291e-05	3.283e-05	3.863e-05	2.693e-05	0.0004	1.263e-05	7.99e-06	7.336e-05	3.046e-05	0	0	0	0	0	0	0	4.415e-05	0	0.0004	0.093	0.31532	T	0.138	0.33780	T	.	.	.	.	.	.	0.000353	0.45440	D	0.144604	0.943049	0.37395	D	.	.	.	-3.25	0.93532	D	-0.53	0.16393	N	0.395	0.43610	0.196	0.85834	D	0.599	0.85714	D	10	0.24123016	0.41298	T	0.093672	0.76114	D	0.266	0.57999	.	.	0.81603122072	0.81430	0.31138757411467466	0.31051	0.542875702707	0.51379	0.558515846729	0.47059	T	.	.	.	-0.171105	0.25066	T	-0.179009	0.56615	T	0.0573618779548829	0.06747	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.07318	B	.	.	3.013582	0.40311	21.1	0.99480517148150827	0.66850	0.54616	0.29659	D	AEFDGBCI	0.597346	0.59116	D	-0.318468725450627	0.28447	1.569102	-0.228953909060705	0.30503	1.718052	0.999999765424401	0.74766	0.706548	0.73137	0	0.491513	0.07743	0	0.724815	0.87919	0	0.633917	0.49826	0	.	.	4.43	4.43	0.52967	0.281000	0.18568	1.623000	0.27698	0.599000	0.40250	0.288000	0.25215	0.894000	0.27871	0.386000	0.26469	0.0:0.8239:0.1761:0.0	11.940	0.52179	889	0.27310	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1338.98	41	chr17	50194035	.	C	T	1338.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.400e-02;DP=827;ExcessHet=0.0000;FS=3.509;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-6.640e-01;SOR=0.710	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1261	20	0	1	0
chr17	50353853	50353853	G	A	exonic	XYLT2	.	nonsynonymous SNV	XYLT2:NM_022167:exon2:c.G359A:p.R120H,	Spondyloocular syndrome, Autosomal recessive	.	406	1112	3	1	0	5	0.00224316	.	.	704219	Osteogenesis_imperfecta|not_provided|XYLT2-related_disorder	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.24	T	0.006	B	0.001	B	0.000	D	0.898	D	0.69	N	3.59	T	-0.993	T	0.011	T	0.128	2.257	13.50	4.38	2.286	1.483	8.656	0.183	.	0.0067	0.00259585	0.0087	0.0025	0.0033	0	0.0089	0.0138	0.0063	0.0007	0.0053816	832	154602	rs145954495	0.0069	0.0069	0.0071	0.0066	0.0083	0.0068	0.0067	0.0081	0.0081	0.0010	0.0028	0.0009	5.075e-05	0.0058	0.0010	0.0083	0.0045	0.0009	0.0051	0.0051	0.0055	0.0046	0.0086	0.0048	0.0046	0.0080	0.0078	0.0014	0.0132	0.0028	0	0	0.0062	0	0.0086	0.0028	0.0004	0.085	0.32769	T	0.066	0.47336	T	0.006	0.13644	B	0.001	0.04355	B	0.000009	0.62929	D	0.116067	0.897779	0.36099	D	0.665	0.16292	N	3.59	0.08810	T	0.02	0.07299	N	0.189	0.20660	-0.9925	0.31959	T	0.011	0.04042	T	10	0.0050898492	0.00110	T	.	.	.	0.183	0.45592	.	.	0.154104182512	0.14974	0.1832588949246109	0.18244	0.514521517315	0.49394	0.683131456375	0.64717	T	0.054186	0.29652	T	-0.625774	0.00102	T	-0.664408	0.07972	T	0.01238613396136	0.00202	T	0.878012	0.60121	D	0.06173446	0.12818	0.03941164	0.04027	0.06534882	0.13957	0.03941164	0.04026	-4.995	0.36786	T	0.21769232335749944	0.29303	0.101	0.17615	B	.;.	.;.	3.918577	0.57191	23.8	0.99691822765160176	0.79977	0.85361	0.44486	D	AEFDBCI	0.299699	0.40869	N	-0.302589738578482	0.29050	1.607545	-0.134123289503132	0.34024	1.95263	0.994266792254848	0.33559	0.634777	0.41761	0	0.577304	0.33150	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.38	4.38	0.52019	1.906000	0.39518	9.720000	0.81362	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.1587:0.0:0.8413:0.0	8.656	0.33226	930	0.16408	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1714.98	33	chr17	50353853	.	G	A	1714.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.649;DP=852;ExcessHet=0.0000;FS=6.715;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=1.34;SOR=1.259	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1451	20	0	1	0
chr17	50358288	50358288	G	A	exonic	XYLT2	.	nonsynonymous SNV	XYLT2:NM_022167:exon10:c.G2023A:p.V675M,	Spondyloocular syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	715552	XYLT2-related_disorder|Osteogenesis_imperfecta|not_provided	.|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.007	B	0.014	B	0.000	N	1.000	D	0.62	N	0.83	T	-1.051	T	0.032	T	0.052	-0.210	2.981	2.27	0.308	1.133	7.395	0.049	.	0.0051	0.00479233	0.0013	0.0146	8.732e-05	0.0007	0	9.201e-05	0	6.087e-05	0.0013066	202	154602	rs147831067	0.0005	0.0005	0.0005	0.0004	0.0151	0.0004	0.0004	0.0140	0.0135	0.0151	0.0005	0	0.0004	0	0.0012	6.655e-05	0.0009	0.0001	0.0045	0.0045	0.0046	0.0044	0.0155	0.0042	0.0041	0.0145	0.0141	0.0155	0	0.0012	0	0.0006	0	0	8.821e-05	0.0038	0.0002	1.0	0.00964	T	0.926	0.02814	T	0.007	0.14184	B	0.014	0.16862	B	0.000089	0.51296	N	0.206925	1	0.81001	D	-0.535	0.02521	N	0.83	0.47815	T	0.67	0.02263	N	0.197	0.21710	-1.0507	0.14203	T	0.032	0.13635	T	10	0.005012095	0.00108	T	.	.	.	0.049	0.13647	.	.	0.199424873507	0.19547	0.4061435972415296	0.40530	0.423955509883	0.42838	0.2950938344	0.09671	T	0.028395	0.20579	T	-0.641795	0.00081	T	-0.682994	0.06802	T	0.000981276237548153	0.00009	T	0.816918	0.47330	T	0.020171253	0.00566	0.045740817	0.06221	0.023517476	0.01097	0.041989006	0.04897	-5.073	0.37622	T	0.09075109009691164	0.05685	0.062	0.01215	B	.	.	1.093221	0.14769	11.31	0.40153356483912861	0.02816	0.13834	0.18077	N	AEFDBI	0.017179	0.00433	N	-0.889737040680057	0.11085	0.5331038	-0.731285396824299	0.16183	0.8548866	0.577079060768058	0.21540	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.63	2.27	0.27501	0.958000	0.28825	2.240000	0.31603	-0.102000	0.15922	0.315000	0.25459	0.935000	0.28640	0.992000	0.67800	0.7528:0.0:0.2472:0.0	7.395	0.26105	920	0.19381	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	2234.98	34	chr17	50358288	.	G	A	2234.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.56;DP=865;ExcessHet=0.0000;FS=1.943;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=1.06;SOR=0.880	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1179	20	0	1	0
chr17	50375548	50375548	G	A	exonic	EME1	.	nonsynonymous SNV	EME1:NM_001166131:exon2:c.G340A:p.D114N	.	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.589	P	0.173	B	0.268	N	1.000	N	0.805	L	2.93	T	-0.995	T	0.019	T	0.01	0.692	7.698	1.55	0.192	0.398	4.102	0.082	0.0039438804424	0.0002	0.000399361	0.0006	9.667e-05	0.0004	0	0	0.0010	0	0	0.0006274	97	154602	rs141978919	0.0007	0.0007	0.0007	0.0007	0.0008	0.0006	0.0006	0.0008	0.0008	5.974e-05	0.0004	0	0	0.0001	0.0007	0.0008	0.0006	1.159e-05	0.0006	0.0006	0.0007	0.0004	0.0010	0.0005	0.0004	0.0008	0.0007	9.627e-05	0	0.0006	0	0	0	0	0.0010	0.0014	0	0.356	0.12265	T	0.49	0.11551	T	0.589	0.39027	P	0.173	0.35463	B	0.267994	0.03753	N	1.548680	1	0.08975	N	2.24	0.63355	M	2.92	0.09915	T	-0.56	0.17003	N	0.034	0.00942	-0.9950	0.31299	T	0.019	0.07846	T	10	0.01262635	0.00271	T	0.003944	0.09305	T	0.082	0.23913	.	.	0.479744053436	0.47606	0.0998765619554847	0.09918	0.0586537782296	0.06507	0.273420512676	0.06592	T	0.014886	0.12588	T	-0.667929	0.00056	T	-0.791402	0.02127	T	0.00917345447956903	0.00116	T	0.506949	0.16072	T	0.028409453	0.02174	0.024341479	0.00452	0.028409453	0.02174	0.024341479	0.00452	-3.013	0.10321	T	.	.	0.075	0.05491	B	.;.;.	.;.;.	1.050968	0.14322	10.90	0.98962370616025741	0.49364	0.07399	0.13418	N	AEFBI	.	.	.	-0.745366698623857	0.14759	0.7379715	-0.803957845092292	0.14400	0.7521947	0.991271013165037	0.32432	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.7	1.55	0.22356	0.428000	0.21114	1.844000	0.29209	-0.123000	0.13640	0.000000	0.06391	0.092000	0.22550	0.376000	0.26245	0.2913:0.1836:0.5251:0.0	4.102	0.09491	913	0.21160	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2914.98	180	chr17	50375548	.	G	A	2914.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=2664;ExcessHet=0.0000;FS=0.505;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.88;ReadPosRankSum=0.615;SOR=0.767	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,107,1384	20	0	1	0
chr17	50375775	50375775	T	A	exonic	EME1	.	nonsynonymous SNV	EME1:NM_001166131:exon2:c.T567A:p.N189K	.	.	417	1083	22	0	0	22	0.0100548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.019	B	0.011	B	0.007	N	1.000	N	1.65	L	2.97	T	-1.018	T	0.024	T	0.07	-0.115	3.436	3.48	0.746	0.268	6.473	0.023	.	0.0012	0.00259585	0.0024	0.0002	0.0008	0	0	0.0014	0.0044	0.0110	0.0021474	332	154602	rs150118812	0.0016	0.0016	0.0013	0.0020	0.0120	0.0016	0.0016	0.0114	0.0111	5.974e-05	0.0008	0.0014	2.519e-05	7.489e-05	0.0080	0.0010	0.0019	0.0120	0.0012	0.0012	0.0009	0.0015	0.0129	0.0010	0.0010	0.0103	0.0094	0.0003	0	0.0007	0.0012	0.0002	0	0.0103	0.0012	0.0019	0.0129	0.324	0.13392	T	0.195	0.28032	T	0.019	0.17989	B	0.011	0.15521	B	0.006543	0.31955	N	0.241878	1	0.08975	N	1.59	0.40313	L	2.95	0.09635	T	-1.41	0.34795	N	0.047	0.02964	-1.0182	0.24301	T	0.024	0.10374	T	10	0.0027058125	0.00042	T	.	.	.	0.023	0.04649	0.179	0.08626	0.43912465853	0.43530	0.07992941132986522	0.07927	0.0700650985823	0.07848	0.287010222673	0.08489	T	0.007827	0.07211	T	-0.664322	0.00059	T	-0.717634	0.04911	T	0.00915201793787544	0.00115	T	0.383062	0.09347	T	0.06320632	0.13284	0.0655125	0.13287	0.06320632	0.13284	0.0655125	0.13287	-2.843	0.08586	T	.	.	0.138	0.30264	B	.;.;.	.;.;.	1.567081	0.20069	14.57	0.82479443836745459	0.14213	0.15640	0.19010	N	AEFBI	0.199897	0.32666	N	-0.743084202312359	0.14822	0.7416366	-0.771456895211419	0.15195	0.7979896	0.997124829741262	0.35298	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.58	3.48	0.38946	0.860000	0.27527	-0.119000	0.11742	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.460000	0.28118	0.1398:0.0:0.243:0.6172	6.473	0.21218	912	0.21483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2510.98	41	chr17	50375775	.	T	A	2510.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.15;DP=944;ExcessHet=0.0000;FS=5.753;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.99;ReadPosRankSum=-9.200e-02;SOR=0.958	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,107,1384	20	0	1	0
chr17	50378822	50378822	G	A	exonic	EME1	.	nonsynonymous SNV	EME1:NM_001166131:exon5:c.G1039A:p.V347I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.999	D	0.988	D	0.000	D	1.000	D	1.905	M	1.87	T	-1.070	T	0.072	T	0.151	4.203	21.8	3.6	0.837	4.408	12.040	0.078	.	0.0048	0.00479233	0.0012	0.0135	8.639e-05	0	0	1.498e-05	0	0	0.0011902	184	154602	rs7222520	0.0004	0.0004	0.0005	0.0004	0.0149	0.0004	0.0004	0.0138	0.0134	0.0149	0.0005	0	0	0	0.0010	1.799e-06	0.0009	8.115e-05	0.0043	0.0043	0.0044	0.0043	0.0151	0.0040	0.0039	0.0141	0.0138	0.0151	0	0.0012	0	0	0	0	2.94e-05	0.0038	0.0002	0.116	0.28395	T	0.119	0.36101	T	0.999	0.77913	D	0.988	0.77976	D	0.000001	0.62929	D	0.000000	0.99961	0.47849	D	2.825	0.82220	M	1.87	0.24085	T	-0.46	0.14978	N	0.133	0.15469	-1.0696	0.09501	T	0.072	0.29098	T	10	0.0057918727	0.00129	T	.	.	.	0.078	0.22779	.	.	0.568072681961	0.56471	0.40253235001904397	0.40169	0.244200854177	0.26925	0.415365874767	0.27198	T	0.011601	0.10324	T	-0.495086	0.00609	T	-0.472257	0.25274	T	0.0731945408623784	0.09092	T	0.680232	0.28883	T	0.102816425	0.24298	0.07683979	0.17059	0.102816425	0.24298	0.07683979	0.17059	-4.014	0.25305	T	.	.	0.085	0.14797	B	.;.;.	.;.;.	2.922112	0.38794	20.8	0.99767116093770813	0.85583	0.91921	0.54552	D	AEFDBCI	0.349463	0.44324	N	0.304767500702458	0.56394	3.803925	0.214432969869688	0.50647	3.254666	0.995709804411434	0.34277	0.744818	0.98587	0	0.702456	0.74545	0	0.732433	0.93434	0	0.636168	0.56350	0	.	.	5.58	3.6	0.40374	4.479000	0.59970	2.586000	0.33442	0.676000	0.76740	1.000000	0.71638	0.998000	0.33993	0.951000	0.49849	0.1392:0.0:0.8608:0.0	12.040	0.52744	932	0.16191	.;ERCC4 domain|ERCC4 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2087.98	34	chr17	50378822	.	G	A	2087.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.600e-01;DP=1488;ExcessHet=0.0000;FS=1.269;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.30;ReadPosRankSum=-1.322e+00;SOR=0.570	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr17	50465359	50465359	G	A	exonic	CHAD	.	nonsynonymous SNV	CHAD:NM_001267:exon3:c.C1019T:p.T340M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	1.0	D	0.789	P	0.000	D	1.000	D	1.075	L	0.47	T	-0.733	T	0.211	T	0.498	4.317	22.6	5.12	2.380	3.424	18.581	0.175	0.0511894015337	.	.	2.473e-05	9.628e-05	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs771331186	1.915e-05	1.915e-05	1.361e-05	2.475e-05	0.0001	1.328e-05	1.144e-05	5.395e-05	4.042e-05	2.987e-05	0	0	0	0	0	1.439e-05	3.312e-05	0.0001	6.574e-06	6.566e-06	0	1.346e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.015	0.52492	D	0.011	0.64786	D	1.0	0.90584	D	0.789	0.57669	P	0.000006	0.62929	D	0.106561	1	0.81001	D	1.7	0.43825	L	0.47	0.56114	T	-0.82	0.22508	N	0.521	0.55106	-0.7329	0.58817	T	0.211	0.57134	T	10	0.435511	0.57766	T	0.051189	0.64555	D	0.175	0.44197	0.318	0.29581	0.832425800339	0.83083	0.5777225342019477	0.57701	1.00889876937	0.74677	0.557255029678	0.46879	T	0.061688	0.31720	T	-0.193013	0.21816	T	-0.278358	0.46971	T	0.417893588542938	0.29612	T	0.888611	0.61875	D	0.21328315	0.43702	0.15308031	0.35988	0.21328315	0.43702	0.15308031	0.35987	-6.103	0.47133	T	.	.	0.335	0.57367	B	.;.	.;.	4.783567	0.77554	26.7	0.99892398269043325	0.96589	0.91879	0.54461	D	AEFDBI	0.685161	0.64726	D	0.473804648259725	0.65565	4.838566	0.492061432584861	0.67461	5.087376	0.977494522406468	0.29827	0.554377	0.28877	0	0.547309	0.14657	0	0.603688	0.36954	0	0.567892	0.33627	0	.	.	5.12	5.12	0.69459	3.287000	0.51438	11.827000	0.97409	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.0:1.0:0.0	18.581	0.91125	894	0.26265	Cysteine-rich flanking region, C-terminal;Cysteine-rich flanking region, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1353.98	39	chr17	50465359	.	G	A	1353.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.561;DP=893;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=0.974;SOR=0.664	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr17	50517305	50517305	C	T	exonic	MYCBPAP	.	nonsynonymous SNV	MYCBPAP:NM_001366294:exon3:c.C217T:p.R73C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.916	D	0.030	N	1.000	D	2.125	M	1.78	T	-0.853	T	0.140	T	0.454	2.438	14.11	4.48	1.437	2.028	12.268	0.200	0.0299245457448	7.7e-05	.	2.471e-05	0	0	0	0	1.499e-05	0	0.0001	1.94e-05	3	154602	rs373757291	2.668e-05	2.668e-05	2.586e-05	2.75e-05	0.0001	1.997e-05	1.754e-05	6.246e-05	4.757e-05	2.987e-05	0	0	2.519e-05	0	0	2.428e-05	0	0.0001	6.574e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	.	.	.	.	.	.	0.030155	0.25350	N	0.417829	0.974161	0.39082	D	.	.	.	1.78	0.25996	T	-4.04	0.81835	D	0.178	0.19190	-0.8531	0.51753	T	0.140	0.45960	T	10	0.29058614	0.46639	T	0.029925	0.52343	D	0.200	0.48430	.	.	0.378498632473	0.37457	.	.	0.230248923434	0.25573	0.228967398405	0.01893	T	0.177832	0.52827	T	-0.237621	0.15653	T	-0.376449	0.36137	T	0.682659804821014	0.39909	D	0.816118	0.47137	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.14568	B	.;.;.	.;.;.	3.789456	0.54539	23.5	0.99915264310246277	0.98379	0.61900	0.31620	D	AEFDGBHCI	0.183958	0.31128	N	0.250167636263467	0.53647	3.532683	0.126441994600675	0.45906	2.845585	0.999999999997263	0.74766	0.608966	0.35542	0	0.588015	0.36545	0	0.550215	0.18615	0	0.505526	0.08623	0	.	.	5.45	4.48	0.53973	2.100000	0.41402	1.444000	0.26551	0.599000	0.40250	0.350000	0.25759	0.808000	0.27011	0.083000	0.17415	0.0:0.92:0.0:0.08	12.268	0.54006	928	0.17405	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2118.98	33	chr17	50517305	.	C	T	2118.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.699e+00;DP=818;ExcessHet=0.0000;FS=6.800;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.96;ReadPosRankSum=1.59;SOR=0.290	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1243	20	0	1	0
chr17	50538888	50538888	-	C	exonic	EPN3	.	frameshift insertion	EPN3:NM_017957:exon4:c.687dupC:p.A232Sfs*31,	.	.	406	1112	4	0	0	4	0.00179533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0002	0	0	0	0	0.0003	0	0.0005	0.0001488	23	154602	rs773848705	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0002	9.091e-05	2.322e-05	0	0	1.887e-05	0.0007	0.0002	0.0003	0.0003	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	9.257e-05	0.0002	0.0002	0	0	0.0001	0	0	0	0	0.0003	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	604.94	26	chr17	50538888	.	T	TC	604.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.730;DP=728;ExcessHet=0.0000;FS=1.170;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.40;ReadPosRankSum=1.08;SOR=0.512	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1153	20	0	1	0
chr17	50541243	50541243	T	C	exonic	EPN3	.	nonsynonymous SNV	EPN3:NM_017957:exon8:c.T1264C:p.F422L,	.	.	416	1101	4	1	0	6	0.00271739	.	.	2398096	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.48	T	0.005	B	0.008	B	0.814	N	1.000	D	1.995	M	0.24	T	-0.947	T	0.176	T	0.173	1.908	12.34	4.76	2.003	1.924	8.444	0.140	0.0141825201783	.	0.000199681	6.59e-05	0	0	0	0	7.493e-05	0.0011	0.0001	6.47e-05	10	154602	rs193150553	0.0001	0.0001	0.0001	0.0001	0.0151	0.0001	0.0001	0.0125	0.0116	8.961e-05	0	0	0	0	0.0151	5.306e-05	0.0003	0.0001	7.225e-05	7.218e-05	3.856e-05	0.0001	4.411e-05	3.97e-05	3.126e-05	1.171e-05	6.25e-06	2.407e-05	0	0	0	0	0	0.0204	4.411e-05	0.0005	0	0.059	0.37536	T	0.228	0.25286	T	0.005	0.12996	B	0.008	0.13708	B	0.814410	0.09226	N	0.865719	1	0.81001	D	1.89	0.50145	L	0.24	0.59583	T	-2.9	0.60827	D	0.289	0.32701	-0.9465	0.41566	T	0.176	0.51990	T	10	0.15172276	0.28672	T	0.014183	0.34122	T	0.140	0.37593	.	.	0.862625972627	0.86129	0.24191483975762648	0.24105	0.191962338757	0.21522	0.471148610115	0.34839	T	0.239268	0.60735	T	-0.25405	0.13607	T	-0.400048	0.33380	T	0.0395641922950745	0.03612	T	0.60194	0.22516	T	0.19060323	0.40653	0.176594	0.40204	0.19060323	0.40653	0.176594	0.40204	-4.323	0.28498	T	.	.	0.517	0.65350	A	.	.	3.153646	0.42703	21.6	0.988751782024193	0.47719	0.10979	0.16325	N	AEFDGBCI	0.114711	0.22583	N	-0.37879253561079	0.26227	1.429715	-0.302100713721761	0.28031	1.559737	0.999999677528642	0.74766	0.676563	0.55306	0	0.475579	0.06741	0	0.673471	0.61138	0	0.604944	0.38103	0	.	.	4.76	4.76	0.60189	2.383000	0.44008	6.019000	0.52765	0.651000	0.53179	0.920000	0.31959	1.000000	0.68203	0.656000	0.32857	0.0:0.0884:0.0:0.9116	8.444	0.31990	942	0.12992	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1898.98	34	chr17	50541243	.	T	C	1898.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.504e+00;DP=1003;ExcessHet=0.0000;FS=2.765;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=1.06;SOR=0.514	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,982	20	0	1	0
chr17	50548440	50548440	A	G	exonic	SPATA20	.	nonsynonymous SNV	SPATA20:NM_001258372:exon2:c.A235G:p.N79D	.	.	414	1083	25	0	0	25	0.0114103	.	.	2811471	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.999	D	0.99	D	0.000	D	1.000	D	2.96	M	0.83	T	-0.389	T	0.253	T	0.544	4.482	24.0	4.59	1.918	4.754	10.322	0.470	0.0361846041077	0.0039	0.00359425	0.0042	0.0007	0.0029	0	0.0008	0.0059	0.0056	0.0040	0.0042432	656	154602	rs145670888	0.0049	0.0049	0.0049	0.0049	0.0184	0.0048	0.0047	0.0155	0.0145	0.0011	0.0033	0.0133	7.557e-05	0.0009	0.0184	0.0051	0.0057	0.0043	0.0040	0.0040	0.0043	0.0037	0.0052	0.0037	0.0036	0.0048	0.0046	0.0010	0.0504	0.0043	0.0161	0	0.0005	0.0272	0.0052	0.0057	0.0039	0.0	0.91255	D	0.0	0.92824	D	0.998	0.77913	D	0.988	0.78936	D	0.000000	0.84330	D	0.000000	0.999889	0.50402	D	3.015	0.86134	M	0.83	0.47815	T	-4.6	0.78976	D	0.709	0.71676	-0.3887	0.72383	T	0.253	0.62337	T	10	0.017895311	0.00385	T	0.036185	0.56830	D	0.470	0.76421	.	.	0.690399711728	0.68774	0.6965168757279541	0.69592	0.839685681929	0.67980	0.645402669907	0.59331	T	0.312235	0.68407	T	-0.303972	0.08289	T	-0.207077	0.53973	T	0.0526040994866846	0.05951	T	0.988539	0.96067	D	0.8381297	0.86475	0.7514801	0.85310	0.8381297	0.86477	0.7514801	0.85311	-12.059	0.86042	D	.	.	0.740	0.75209	P	.;.;.;.	.;.;.;.	4.294546	0.65523	24.8	0.99748116948115517	0.84002	0.93535	0.58482	D	AEFDBI	0.598197	0.59169	D	0.70968945048669	0.80268	7.256726	0.626845165808188	0.76896	6.576254	0.999999816269473	0.74766	0.732398	0.92422	0	0.643519	0.57511	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.59	4.59	0.56297	5.788000	0.68670	8.006000	0.76170	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.9195:0.0:0.0805:0.0	10.322	0.42957	944	0.12746	.;.;Domain of unknown function DUF255;Domain of unknown function DUF255	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3435.98	45	chr17	50548440	.	A	G	3435.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.651e+00;DP=1502;ExcessHet=0.0000;FS=0.459;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.58;ReadPosRankSum=-2.000e-01;SOR=0.655	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr17	50626256	50626256	C	A	exonic	CACNA1G	.	nonsynonymous SNV	CACNA1G:NM_198387:exon34:c.C6258A:p.S2086R	Spinocerebellar ataxia 42, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.999	D	0.991	D	0.015	N	1.000	D	1.445	L	-3.99	D	0.941	D	0.902	D	0.604	3.276	17.00	5.32	2.484	3.565	17.162	0.488	0.0640664370535	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.737e-06	2.736e-06	4.085e-06	1.376e-06	8.994e-07	6.4e-07	4.3e-07	.	.	0	0	0	0	0	0	8.994e-07	4.969e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.58626	D	0.531	0.12002	T	0.982	0.60036	D	0.823	0.59197	P	0.014898	0.28400	N	0.385981	0.861214	0.81001	D	1.7	0.43825	L	-4.09	0.96908	D	-1.02	0.27259	N	0.387	0.46368	0.941	0.96256	D	0.902	0.96735	D	10	0.25750923	0.43168	T	0.064066	0.69161	D	0.488	0.77592	0.164	0.06842	0.722720362632	0.72027	0.3028794021211745	0.30200	0.218148210531	0.24350	0.503377318382	0.39298	T	0.079621	0.36170	T	0.218732	0.75655	D	0.0764175	0.75339	D	0.816940009593964	0.47546	D	0.948005	0.84807	D	0.26318723	0.49383	0.26166698	0.51947	0.26318723	0.49383	0.26166698	0.51947	-3.475	0.16473	T	.	.	0.464	0.67748	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.847529	0.55711	23.6	0.99846362612898454	0.92576	0.58259	0.30594	D	ALL	0.771776	0.70630	D	0.319357741833973	0.57142	3.880569	0.383981483799169	0.60577	4.24679	1.0	0.98316	0.520426	0.21595	0	0.596394	0.48810	0	0.651303	0.49530	0	0.825845	0.99933	0	.	.	5.32	5.32	0.75377	4.697000	0.61467	4.887000	0.45725	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:1.0:0.0:0.0	17.162	0.86685	851	0.35303	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1640.98	34	chr17	50626256	.	C	A	1640.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.350;DP=947;ExcessHet=0.0000;FS=0.552;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.87;ReadPosRankSum=1.04;SOR=0.643	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr17	50684024	50684024	A	G	exonic	ABCC3	.	nonsynonymous SNV	ABCC3:NM_003786:exon28:c.A4030G:p.K1344E,	.	.	412	1101	9	0	0	9	0.00407056	.	.	727288	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.001	B	0.005	B	0.012	N	0.999	N	-0.085	N	-3.1	D	-0.689	T	0.403	T	0.106	-0.263	2.739	2.06	0.656	1.360	7.713	0.226	0.0163037891783	0.0005	0.000998403	0.0015	9.649e-05	0.0009	0	0	0.0008	0	0.0071	0.0012807	198	154602	rs150601692	0.0008	0.0008	0.0006	0.0010	0.0073	0.0007	0.0007	0.0069	0.0067	5.988e-05	0.0009	0.0069	0	0	0.0019	0.0002	0.0012	0.0073	0.0005	0.0005	0.0006	0.0005	0.0031	0.0005	0.0004	0.0019	0.0016	0.0001	0	0.0009	0.0058	0	0	0	0.0004	0	0.0031	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.005	0.11217	B	0.012046	0.29308	N	0.385040	1	0.08975	N	-0.89	0.01422	N	-3.1	0.92667	D	1.32	0.00925	N	0.087	0.06454	-0.6892	0.60945	T	0.403	0.75374	T	10	0.0060821474	0.00137	T	0.016304	0.37489	T	0.226	0.52472	.	.	0.559310644637	0.55592	0.4723890345879636	0.47157	0.217223232135	0.24242	0.277645945549	0.07166	T	0.174411	0.52362	T	-0.413208	0.01893	T	-0.362036	0.37817	T	0.008964396830968	0.00112	T	0.746025	0.36642	T	0.11902573	0.28033	0.07449888	0.16304	0.11902573	0.28033	0.07449888	0.16304	-0.851	0.00848	T	.	.	0.054	0.00303	B	.	.	1.029159	0.14089	10.66	0.4518754786010718	0.03528	0.03985	0.09401	N	AEFDBHCI	0.189402	0.31666	N	-1.11157312016442	0.06436	0.2962772	-0.986852560017786	0.10080	0.5054526	0.999985598095602	0.51787	0.554377	0.28877	0	0.588066	0.40923	0	0.608075	0.38828	0	0.567892	0.33627	0	.	.	5.24	2.06	0.25932	1.457000	0.34822	2.000000	0.30117	-0.137000	0.12594	0.003000	0.16062	0.960000	0.29291	0.977000	0.56843	0.2169:0.1322:0.6509:0.0	7.713	0.27855	882	0.29131	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1286.98	34	chr17	50684024	.	A	G	1286.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.390e-01;DP=838;ExcessHet=0.0000;FS=2.388;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=0.515;SOR=0.791	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1405	20	0	1	0
chr17	50699525	50699525	A	G	exonic	ANKRD40	.	nonsynonymous SNV	ANKRD40:NM_052855:exon3:c.T652C:p.S218P,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.006	B	0.005	B	0.131	N	1.000	N	-0.345	N	1.94	T	-1.020	T	0.007	T	0.132	1.468	10.86	2.86	0.863	1.299	1.469	0.042	.	0.0008	0.00758786	0.0054	0.0010	0.0320	0.0290	0	0.0002	0.0044	0.0001	0.0048706	753	154602	rs142677234	0.0021	0.0021	0.0023	0.0020	0.0418	0.0021	0.0021	0.0401	0.0395	0.0004	0.0273	3.826e-05	0.0418	0	0.0002	0.0001	0.0014	0.0002	0.0022	0.0022	0.0020	0.0024	0.0307	0.0020	0.0019	0.0268	0.0253	0.0008	0	0.0078	0	0.0307	0	0	0.0002	0.0019	0.0012	0.309	0.14064	T	0.3	0.20357	T	0.006	0.13644	B	0.005	0.11217	B	0.131000	0.18639	N	0.572025	1	0.08975	N	0.55	0.14455	N	1.94	0.22678	T	-0.03	0.07444	N	0.318	0.35832	-1.0198	0.23780	T	0.007	0.02244	T	10	0.002810359	0.00044	T	.	.	.	0.042	0.11227	.	.	0.0762999501168	0.06990	0.331465384315282	0.33059	0.373130535319	0.38784	0.47111082077	0.34834	T	0.004269	0.03680	T	-0.628763	0.00097	T	-0.629615	0.10444	T	0.00453025773363421	0.00048	T	0.657134	0.26688	T	0.038579755	0.05166	0.07057054	0.15008	0.038579755	0.05166	0.07057054	0.15008	-2.913	0.09274	T	.	.	0.071	0.03773	B	.	.	2.266156	0.28962	17.97	0.98939934627955162	0.48921	0.09326	0.15105	N	ALL	0.062019	0.11895	N	-0.638960625387119	0.17782	0.9179925	-0.481256626516533	0.22671	1.232507	0.999999994372576	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.17	2.86	0.32427	0.481000	0.21969	6.127000	0.53864	0.756000	0.94297	0.000000	0.06391	1.000000	0.68203	0.991000	0.66497	0.3765:0.2815:0.0821:0.2599	1.469	0.02266	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1934.98	34	chr17	50699525	.	A	G	1934.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.506e+00;DP=852;ExcessHet=0.0000;FS=3.831;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=0.138;SOR=0.531	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1311	20	0	1	0
chr17	50699856	50699858	GTT	-	exonic	ANKRD40	.	nonframeshift deletion	ANKRD40:NM_052855:exon3:c.319_321del:p.N107del,	.	.	426	1093	2	1	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.324e-07	6.841e-07	1.436e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1546.94	34	chr17	50699855	.	GGTT	G	1546.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.916;DP=765;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.80;ReadPosRankSum=0.456;SOR=0.748	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1311	20	0	1	0
chr17	52157782	52157782	T	C	exonic	CA10	.	nonsynonymous SNV	CA10:NM_020178:exon1:c.A5G:p.E2G	.	.	416	1100	6	0	0	6	0.00271985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.779	P	0.206	B	.	.	1.000	D	0.345	N	1.76	T	-1.069	T	0.035	T	0.854	2.389	13.95	5.32	2.233	5.637	14.618	0.145	0.00895609369919	.	0.000798722	0.0002	9.61e-05	8.637e-05	0	0	0.0002	0	0.0007	0.0002199	34	154602	rs11655970	0.0001	0.0001	0.0001	0.0002	0.0009	0.0001	0.0001	0.0004	0.0003	5.975e-05	0.0002	0.0010	0	3.744e-05	0.0009	9.535e-05	0.0004	0.0005	0.0002	0.0002	0.0002	0.0003	0.0009	0.0002	0.0001	0.0005	0.0004	4.821e-05	0	0.0009	0.0009	0	0	0	0.0001	0.0014	0.0008	0.035	0.43708	D	0.112	0.41742	T	0.779	0.44223	P	0.206	0.37138	B	.	.	.	.	0.911357	0.81001	D	0.345	0.11182	N	1.76	0.25996	T	-0.52	0.16187	N	0.498	0.53181	-1.0689	0.09657	T	0.035	0.15247	T	8	0.057142675	0.06518	T	0.008956	0.23607	T	0.145	0.38592	.	.	0.671091505716	0.66831	0.819130613662359	0.81870	0.450507776248	0.44821	0.801010847092	0.82117	T	0.019447	0.15495	T	-0.129133	0.31636	T	-0.0668901	0.65849	T	0.0908710733056068	0.11321	T	0.720928	0.33404	T	0.11026501	0.26066	0.21098495	0.45508	0.11026501	0.26065	0.21098495	0.45507	-3.472	0.16042	T	.	.	0.100	0.18910	B	.;.;.;.	.;.;.;.	3.514202	0.49230	22.7	0.99321075609649945	0.59393	0.91293	0.53242	D	AEFDBHCI	0.796720	0.72377	D	0.191200827340129	0.50776	3.264504	0.329510715591668	0.57281	3.893232	0.999999999869561	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	5.32	5.32	0.75377	5.886000	0.69487	7.768000	0.68418	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.618	0.68164	921	0.19240	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1114.98	34	chr17	52157782	.	T	C	1114.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.330e-01;DP=845;ExcessHet=0.0000;FS=0.673;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.71;ReadPosRankSum=-2.400e-02;SOR=0.803	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1145	20	0	1	0
chr17	53823305	53823305	C	T	exonic	KIF2B	.	nonsynonymous SNV	KIF2B:NM_032559:exon1:c.C272T:p.P91L,	.	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.607	P	0.075	B	0.543	U	1.000	N	1.28	L	-0.9	T	-0.960	T	0.154	T	0.198	0.218	5.173	-5.63	-1.091	-1.058	1.091	0.198	0.0179222517418	0.0008	0.000399361	0.0009	0	0.0010	0	0.0003	0.0013	0.0033	0.0004	0.0008926	138	154602	rs145539514	0.0011	0.0011	0.0011	0.0010	0.0104	0.0010	0.0010	0.0083	0.0075	0.0004	0.0010	0.0023	0	0.0003	0.0104	0.0011	0.0011	0.0006	0.0008	0.0008	0.0009	0.0006	0.0013	0.0006	0.0006	0.0009	0.0007	0.0002	0	0.0013	0.0040	0.0002	0.0002	0.0102	0.0009	0.0009	0.0002	0.012	0.54683	D	0.043	0.49942	D	0.607	0.39488	P	0.075	0.28327	B	0.542547	0.11521	U	0.705286	1	0.08975	N	1.805	0.47535	L	-0.9	0.74896	T	-0.92	0.24676	N	0.33	0.37093	-0.9596	0.39255	T	0.154	0.48378	T	10	0.010518253	0.00234	T	0.017922	0.39803	T	0.198	0.48105	.	.	0.76020778673	0.75803	0.20594814770359876	0.20511	0.0992374294878	0.11216	0.240060791373	0.02796	T	0.006992	0.06413	T	-0.424962	0.01591	T	-0.428756	0.30077	T	0.016357228279504	0.00404	T	0.377062	0.09013	T	0.036736734	0.04578	0.034541283	0.02538	0.036736734	0.04578	0.034541283	0.02538	-4.095	0.25216	T	.	.	0.061	0.01042	B	.	.	-0.345280	0.02425	0.274	0.88546495760457522	0.18062	0.07837	0.13830	N	AEFDBCI	0.048171	0.08193	N	-0.971001501926179	0.09227	0.4358244	-1.15206478568342	0.06730	0.3249779	5.83277591811003E-4	0.07390	0.533608	0.22052	0	0.573888	0.26702	0	0.685742	0.62368	0	0.564101	0.26826	0	.	.	4.86	-5.63	0.02276	-1.029000	0.03696	-2.550000	0.03620	0.586000	0.30580	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3126:0.3381:0.1018:0.2476	1.091	0.01559	894	0.26265	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2687.98	188	chr17	53823305	.	C	T	2687.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.87;DP=892;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.30;ReadPosRankSum=0.676;SOR=0.735	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1249	20	0	1	0
chr17	54915813	54915813	T	C	exonic	TOM1L1	.	nonsynonymous SNV	TOM1L1:NM_001321174:exon5:c.T440C:p.M147T	.	.	437	1082	2	0	1	3	0.000923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.080	N	0.856	N	-1.495	N	1.09	T	-1.033	T	0.019	T	0.31	-0.303	2.554	5.1	2.371	0.270	9.898	0.123	.	7.7e-05	0.000798722	0.0010	0	0	0.0137	0	0	0	0.0002	0.0008667	134	154602	rs146206619	0.0003	0.0003	0.0003	0.0003	0.0111	0.0003	0.0003	0.0102	0.0099	0	2.239e-05	0	0.0111	0	0.0005	0	0.0005	0.0003	0.0004	0.0004	0.0004	0.0004	0.0112	0.0003	0.0003	0.0089	0.0081	0	0	0	0	0.0112	0	0	0	0	0.0004	1.0	0.00964	T	0.8	0.14544	T	0.0	0.02946	B	0.001	0.04355	B	0.080199	0.20940	N	0.513806	0.856193	0.35307	D	-2.02	0.00184	N	1.09	0.39223	T	1.52	0.00737	N	0.252	0.30347	-1.0329	0.19522	T	0.019	0.07986	T	10	0.006843716	0.00156	T	.	.	.	0.123	0.34020	.	.	0.262175524916	0.25828	0.5295596218727323	0.52879	0.136471735538	0.15394	0.427907258272	0.28923	T	0.042977	0.26354	T	-0.504221	0.00541	T	-0.484731	0.23944	T	0.0255795874747887	0.01350	T	0.717028	0.36163	T	0.08308243	0.19169	0.090622924	0.21262	0.08308243	0.19168	0.090622924	0.21261	0.276	0.00265	T	.	.	0.105	0.27283	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.919472	0.24382	16.37	0.63957441454497987	0.07363	0.73891	0.36142	D	AEFBI	0.192687	0.31983	N	-0.592636849732585	0.19167	1.001021	-0.265060063482968	0.29258	1.637747	0.00912111165560807	0.11800	0.719381	0.83141	0	0.633656	0.55848	0	0.723133	0.82415	0	0.668105	0.65232	0	.	.	6.17	5.1	0.68917	0.212000	0.17289	1.203000	0.24851	0.665000	0.62972	0.987000	0.36337	1.000000	0.68203	0.992000	0.67800	0.0:0.0784:0.0:0.9215	9.898	0.40498	683	0.59664	.;GAT domain|GAT domain;GAT domain|GAT domain;.;GAT domain;GAT domain|GAT domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1284.98	33	chr17	54915813	.	T	C	1284.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.236e+00;DP=823;ExcessHet=0.0000;FS=3.332;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.71;ReadPosRankSum=1.37;SOR=0.489	GT:AD:DP:GQ:PL	0/1:61,59:120:99:1299,0,1459	20	0	1	0
chr17	54949592	54949597	GAGTCT	-	exonic	TOM1L1	.	nonframeshift deletion	TOM1L1:NM_001321174:exon11:c.1026_1031del:p.S343_L344del	.	.	439	1079	4	0	0	4	0.00185014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00938498	0.0059	0	0.0002	0	0	1.502e-05	0.0022	0.0430	0.0001537	4	26028	rs574392654	0.0025	0.0025	0.0015	0.0035	0.0388	0.0024	0.0024	0.0377	0.0373	8.963e-05	4.472e-05	3.827e-05	0.0001	1.872e-05	0.0026	1.259e-05	0.0033	0.0388	0.0015	0.0015	0.0008	0.0022	0.0452	0.0013	0.0013	0.0403	0.0384	7.218e-05	0	6.534e-05	0	0	0	0	0	0.0009	0.0452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2528.94	142	chr17	54949591	.	AGAGTCT	A	2528.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.550e-01;DP=850;ExcessHet=0.0000;FS=1.357;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.81;ReadPosRankSum=-4.150e-01;SOR=0.877	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1322	20	0	1	0
chr17	56372823	56372823	C	G	exonic	ANKFN1	.	nonsynonymous SNV	ANKFN1:NM_153228:exon6:c.C788G:p.T263R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.779	P	0.216	B	0.000	D	0.992	D	1.7	L	1.95	T	-1.124	T	0.058	T	0.626	3.090	16.32	5.78	2.724	4.067	20.014	0.116	0.0130831435404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.17526	T	0.038	0.51421	D	0.779	0.44223	P	0.216	0.37572	B	0.000124	0.49741	D	0.216583	0.991505	0.41404	D	1.7	0.43825	L	1.95	0.30133	T	-2.18	0.49187	N	0.372	0.45803	-1.1238	0.02104	T	0.058	0.24428	T	10	0.26595885	0.44097	T	0.013083	0.32199	T	0.116	0.32463	0.355	0.35571	0.761891265402	0.75971	0.4513867748438344	0.45056	0.206266061419	0.23047	0.629049420357	0.57010	T	0.030666	0.21682	T	-0.0599462	0.42916	T	-0.323885	0.42148	T	0.802154362201691	0.46500	D	0.952605	0.81930	D	0.24856552	0.47844	0.3637386	0.61755	0.24856552	0.47844	0.3637386	0.61755	-10.284	0.75595	D	.	.	0.216	0.52010	B	.;.;.	.;.;.	3.816919	0.55095	23.6	0.98763413645764364	0.45847	0.97467	0.74937	D	AEFI	0.647160	0.62244	D	0.370411077617872	0.59824	4.165253	0.467849939340732	0.65869	4.878883	0.991245210461837	0.32422	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.78	5.78	0.91418	5.008000	0.63746	5.919000	0.51137	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	20.014	0.97470	377	0.83897	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1368.98	39	chr17	56372823	.	C	G	1368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.370e-01;DP=967;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=-6.610e-01;SOR=0.635	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	20	0	1	0
chr17	56442921	56442921	G	T	exonic	ANKFN1	.	nonsynonymous SNV	ANKFN1:NM_153228:exon9:c.G1096T:p.A366S	.	.	429	1086	7	0	0	7	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.96	D	0.000	N	1.000	D	2.295	M	1.4	T	-0.660	T	0.243	T	0.636	4.790	27.0	5.72	2.684	8.209	19.880	0.232	0.0373931444775	0.0005	0.000399361	0.0008	9.711e-05	0.0003	0.0001	0.0002	0.0009	0.0011	0.0019	0.0007568	117	154602	rs138216458	0.0006	0.0006	0.0005	0.0007	0.0033	0.0006	0.0006	0.0022	0.0019	2.989e-05	0.0004	0.0041	2.52e-05	3.747e-05	0.0033	0.0005	0.0009	0.0022	0.0004	0.0004	0.0004	0.0004	0.0017	0.0003	0.0003	0.0008	0.0006	7.22e-05	0	0.0004	0.0049	0	0	0.0034	0.0004	0	0.0017	0.01	0.56456	D	0.0	0.92824	D	1.0	0.90584	D	0.96	0.70309	D	0.000011	0.62929	N	0.148766	0.999998	0.58761	D	3.115	0.87836	M	1.4	0.33630	T	-2.4	0.52776	N	0.736	0.73645	-0.6599	0.62280	T	0.243	0.61119	T	10	0.014914453	0.00313	T	0.037393	0.57590	D	0.232	0.53354	.	.	0.872464492951	0.87121	0.5807451798694027	0.58003	0.559285100713	0.52478	0.571488440037	0.48889	T	0.07888	0.42385	T	-0.292023	0.09434	T	-0.199031	0.54739	T	0.0982959046959877	0.12168	T	0.882712	0.60756	D	0.18941581	0.40482	0.25607088	0.51301	0.18941581	0.40482	0.25607088	0.51300	-12.183	0.85731	D	.	.	0.181	0.41708	B	.;.;.	.;.;.	4.360658	0.67059	25.0	0.99700190623640705	0.80591	0.99515	0.96953	D	AEFGBHI	0.888402	0.82148	D	0.864844077679793	0.89936	10.18144	0.854003066918401	0.93247	11.91888	0.999993495095708	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.72	5.72	0.89380	7.679000	0.83364	9.860000	0.82050	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.834000	0.39329	0.0:0.0:1.0:0.0	19.880	0.96894	188	0.92666	Fibronectin type III;Fibronectin type III;Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1332.98	34	chr17	56442921	.	G	T	1332.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.620;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.12;ReadPosRankSum=0.150;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1130	20	0	1	0
chr17	56904353	56904353	T	C	exonic	TRIM25	.	nonsynonymous SNV	TRIM25:NM_005082:exon3:c.A829G:p.I277V,	.	.	433	1082	6	1	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.007	B	0.01	B	0.017	N	1.000	N	1.5	L	0.93	T	-1.033	T	0.088	T	0.079	0.176	4.946	3.53	1.119	0.772	9.996	0.028	.	7.7e-05	0.00339457	0.0026	0.0002	0	0	0	0	0.0011	0.0191	0.0022574	349	154602	rs200957804	0.0012	0.0012	0.0007	0.0017	0.0194	0.0012	0.0011	0.0186	0.0183	5.974e-05	0	0	0	0	0.0003	2.158e-05	0.0011	0.0194	0.0006	0.0006	0.0004	0.0008	0.0168	0.0005	0.0004	0.0138	0.0127	9.628e-05	0	0	0	0	0	0	0	0	0.0168	0.419	0.09866	T	0.546	0.09555	T	0.007	0.14184	B	0.01	0.14941	B	0.017467	0.27716	N	0.312664	1	0.08975	N	1.985	0.53793	M	0.93	0.44065	T	-0.37	0.13226	N	0.265	0.30233	-1.0330	0.19490	T	0.088	0.33913	T	10	0.009251505	0.00209	T	.	.	.	0.028	0.06331	.	.	0.346085882481	0.34212	0.22876417662585583	0.22791	0.202961065636	0.22713	0.448556661606	0.31747	T	0.075671	0.35233	T	-0.610587	0.00126	T	-0.634247	0.10094	T	0.011280357839379	0.00167	T	0.623338	0.24021	T	0.055261847	0.10716	0.04689328	0.06637	0.055261847	0.10715	0.04689328	0.06636	-3.247	0.13063	T	.	.	0.092	0.13644	B	.;.	.;.	2.124554	0.27044	17.33	0.85597541410989109	0.15992	0.39411	0.26207	N	AEFBCI	0.035779	0.04661	N	-0.381615427875809	0.26124	1.423372	-0.274091177666772	0.28956	1.618454	0.857930487644778	0.25169	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.76	3.53	0.39533	1.327000	0.33352	2.177000	0.31099	0.665000	0.62972	0.981000	0.35396	0.996000	0.32793	0.841000	0.39698	0.0:0.2278:0.0:0.7722	9.996	0.41074	32	0.98147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2045.98	44	chr17	56904353	.	T	C	2045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.510e-01;DP=980;ExcessHet=0.0000;FS=1.956;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=0.074;SOR=0.859	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr17	56981165	56981165	T	G	exonic	SCPEP1	.	nonsynonymous SNV	SCPEP1:NM_021626:exon2:c.T160G:p.W54G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.991	D	0.000	D	1.000	D	3.535	H	-2.33	D	0.925	D	0.845	D	0.969	4.485	24.0	5.84	2.231	7.352	14.788	0.913	0.320153073464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.895	0.96086	H	-2.33	0.87910	D	-12.03	0.99635	D	0.891	0.89020	0.925	0.96029	D	0.845	0.94829	D	10	0.9828249	0.98384	D	0.320153	0.91449	D	0.913	0.97700	0.908	0.98109	0.956158281397	0.95569	0.9578512702388418	0.95770	0.621136693719	0.56409	0.652670502663	0.60365	T	0.909318	0.98280	D	0.473237	0.93456	D	0.441996	0.93373	D	0.999727070331573	0.98678	D	0.929907	0.74113	D	0.98713696	0.99602	0.95667875	0.98789	0.98713696	0.99602	0.95667875	0.98789	-13.495	0.91299	D	.	.	0.882	0.81567	P	.;.;.	.;.;.	5.615645	0.92564	32	0.97953111618788735	0.37122	0.97915	0.78093	D	AEFDBI	0.926200	0.90693	D	0.95479390242763	0.94173	12.55634	0.891642385814117	0.95197	13.39912	0.999999999999168	0.74766	0.732398	0.92422	0	0.662677	0.63036	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	7.599000	0.82008	7.711000	0.66806	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.788	0.69441	38	0.97995	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1688.98	39	chr17	56981165	.	T	G	1688.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.704;DP=867;ExcessHet=0.0000;FS=0.640;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=-1.182e+00;SOR=0.781	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1335	20	0	1	0
chr17	57106116	57106116	G	A	exonic	AKAP1	.	nonsynonymous SNV	AKAP1:NM_001370424:exon2:c.G652A:p.A218T	.	.	420	1088	14	0	0	14	0.00639269	.	.	704243	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.12	T	0.0	B	0.0	B	0.361	N	1.000	N	-0.345	N	2.46	T	-1.041	T	0.012	T	0.185	2.394	13.96	4.54	1.567	1.149	7.874	0.082	.	0.0094	0.00798722	0.0072	0.0128	0.0055	0	0.0017	0.0088	0.0102	0.0043	0.0069339	1072	154602	rs73991770	0.0087	0.0087	0.0088	0.0086	0.0157	0.0086	0.0086	0.0146	0.0142	0.0157	0.0061	0.0129	0	0.0018	0.0152	0.0094	0.0102	0.0050	0.0086	0.0086	0.0089	0.0082	0.0119	0.0082	0.0080	0.0110	0.0107	0.0119	0	0.0099	0.0130	0	0.0014	0.0272	0.0081	0.0104	0.0043	0.096	0.31088	T	0.749	0.63918	T	0.0	0.02946	B	0.0	0.01387	B	0.360858	0.13672	N	0.713287	0.999998	0.08975	N	0	0.06538	N	2.46	0.19311	T	-0.38	0.13805	N	0.023	0.00942	-1.0407	0.17101	T	0.012	0.04653	T	10	0.0032155812	0.00055	T	.	.	.	0.082	0.23913	.	.	0.27064940482	0.26676	0.26274687574475475	0.26187	0.229235690652	0.25486	0.264042049646	0.05381	T	0.06946	0.40507	T	-0.575529	0.00205	T	-0.587807	0.13856	T	0.0103156084136076	0.00141	T	0.685131	0.29365	T	0.03802814	0.04989	0.04430828	0.05711	0.03802814	0.04989	0.04430828	0.05711	-3.672	0.19097	T	.	.	0.072	0.18164	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.073842	0.14562	11.13	0.9608047479410895	0.28653	0.58585	0.30681	D	AEFGBI	0.066082	0.12923	N	-0.61244113867462	0.18569	0.9651327	-0.475585080812079	0.22828	1.241874	0.997684897313323	0.35903	0.732398	0.92422	0	0.724815	0.89359	0	0.698795	0.65105	0	0.727631	0.95156	0	.	.	5.51	4.54	0.55220	1.393000	0.34106	2.724000	0.34335	0.590000	0.31872	0.888000	0.31154	0.999000	0.35428	0.003000	0.05239	0.1851:0.0:0.8149:0.0	7.874	0.28747	67	0.97183	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	5147.08	107	chr17	57106116	.	G	A	5147.08	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.77;DP=2063;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=34.31;ReadPosRankSum=-8.550e-01;SOR=0.363	GT:AD:DP:GQ:PL	0/0:140,0:140:99:0,120,1800	20	1	0	0
chr17	57849279	57849279	G	T	exonic	MRPS23	.	nonsynonymous SNV	MRPS23:NM_016070:exon2:c.C176A:p.P59H,	.	.	432	1064	24	2	0	28	0.012987	.	.	1521760	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.08	T	0.53	P	0.34	B	0.004	N	1.000	N	2.05	M	.	.	-0.894	T	0.124	T	0.132	3.055	16.20	-5.03	-0.631	-0.263	5.718	0.074	.	0.0007	0.00678914	0.0066	0.0003	0.0013	0.0002	0.0006	0.0009	0.0088	0.0432	0.0056468	873	154602	rs138577447	0.0032	0.0032	0.0020	0.0045	0.0428	0.0031	0.0031	0.0417	0.0412	0.0003	0.0013	0.0001	0.0001	0.0007	0.0050	0.0006	0.0036	0.0428	0.0018	0.0018	0.0011	0.0026	0.0404	0.0016	0.0016	0.0358	0.0340	0.0002	0	0.0007	0	0.0002	0.0004	0	0.0007	0.0033	0.0404	0.072	0.34982	T	0.12	0.37589	T	0.53	0.37698	P	0.34	0.42389	B	0.003934	0.00993	N	2.515440	1	0.08975	N	2.14	0.59869	M	.	.	.	-3.22	0.64939	D	0.226	0.26233	-0.8943	0.48549	T	0.124	0.42715	T	9	0.0032068193	0.00054	T	.	.	.	0.074	0.21613	.	.	0.177238962908	0.17366	0.40213195719202327	0.40129	0.205357618407	0.22955	0.246498137712	0.03408	T	0.202903	0.56122	T	-0.56619	0.00233	T	-0.553934	0.16949	T	0.0441978682095403	0.04457	T	0.30107	0.05662	T	0.14598365	0.33438	0.14489195	0.34383	0.122028075	0.28682	0.14489195	0.34382	-4.749	0.33991	T	.	.	0.093	0.14015	B	.;.	.;.	1.153333	0.15417	11.83	0.98240022129641202	0.39476	0.03693	0.08968	N	AEFDGBHCI	0.046271	0.07664	N	-0.581543404306759	0.19506	1.021385	-0.734924336193929	0.16093	0.8497054	0.999999999997814	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.86	-5.03	0.02751	-0.567000	0.06007	-1.492000	0.05317	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.947000	0.49155	0.2879:0.0:0.1395:0.5726	5.718	0.17242	131	0.94738	Ribosomal protein S23/S25, mitochondrial;Ribosomal protein S23/S25, mitochondrial	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1791.98	33	chr17	57849279	.	G	T	1791.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=871;ExcessHet=0.0000;FS=1.253;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=0.352;SOR=0.578	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1432	20	0	1	0
chr17	57849289	57849289	C	T	exonic	MRPS23	.	nonsynonymous SNV	MRPS23:NM_016070:exon2:c.G166A:p.A56T,	.	.	431	1082	9	0	0	9	0.00414174	.	.	2907307	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.23	T	0.711	P	0.264	B	0.001	D	0.513	D	1.175	L	.	.	-0.885	T	0.093	T	0.142	4.496	24.1	4.89	1.482	2.526	9.168	0.027	0.00589887765943	0.0002	.	0.0007	0	0	0	0	0.0007	0.0022	0.0020	0.0005886	91	154602	rs149290593	0.0006	0.0006	0.0005	0.0006	0.0018	0.0005	0.0005	0.0016	0.0015	0	0.0001	0.0043	0	0	0.0012	0.0004	0.0007	0.0018	0.0004	0.0004	0.0003	0.0004	0.0008	0.0003	0.0003	0.0003	0.0003	2.405e-05	0	0.0001	0.0040	0	0	0.0034	0.0005	0.0005	0.0008	0.188	0.21304	T	0.425	0.13912	T	0.711	0.42090	P	0.264	0.39629	B	0.000639	0.42799	D	0.265315	0.512619	0.31831	D	2.175	0.60977	M	.	.	.	-0.82	0.22508	N	0.198	0.22098	-0.8851	0.49349	T	0.093	0.35363	T	9	0.009046525	0.00205	T	0.005899	0.15371	T	0.027	0.05988	.	.	0.42538462244	0.42159	0.4361992380045958	0.43536	0.194094060147	0.21745	0.412172347307	0.26758	T	0.020394	0.16063	T	-0.458487	0.01005	T	-0.450376	0.27656	T	0.0235781740017808	0.01093	T	0.687931	0.30167	T	0.07098471	0.15680	0.07776562	0.17356	0.08269517	0.19061	0.07897474	0.17737	-3.181	0.12250	T	.	.	0.102	0.18206	B	.;.	.;.	2.916566	0.38706	20.8	0.99894193891930172	0.96742	0.62965	0.31943	D	AEFDGBHCI	0.072144	0.14389	N	0.147367657306187	0.48689	3.077984	0.245644909185354	0.52402	3.41525	0.999999999999146	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.86	4.89	0.63387	1.904000	0.39498	2.610000	0.33572	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.8358:0.0:0.1641	9.168	0.36227	131	0.94738	Ribosomal protein S23/S25, mitochondrial;Ribosomal protein S23/S25, mitochondrial	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2321.98	33	chr17	57849289	.	C	T	2321.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.980e-01;DP=868;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.88;ReadPosRankSum=-1.210e+00;SOR=0.736	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1432	20	0	1	0
chr17	57979244	57979258	TGCTGCTGCTGCTGC	-	exonic	VEZF1	.	nonframeshift deletion	VEZF1:NM_007146:exon5:c.1032_1046del:p.Q350_Q354del	.	.	.	.	.	.	.	.	.	.	.	2808061	VEZF1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1173190330	0.0032	0.0032	0.0032	0.0031	0.0036	0.0031	0.0031	0.0035	0.0034	0.0009	0.0013	0.0033	0.0004	0.0011	0.0014	0.0036	0.0023	0.0032	0.0022	0.0022	0.0024	0.0020	0.0042	0.0020	0.0019	0.0028	0.0027	0.0010	0.0022	0.0008	0.0041	0.0008	0.0017	0.0034	0.0032	0.0014	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	13884.97	34	chr17	57979243	.	TTGCTGCTGCTGCTGC	T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	13884.97	.	AC=3,1,3;AF=0.071,0.024,0.071;AN=42;BaseQRankSum=0.439;DP=1522;ExcessHet=0.2785;FS=3.274;InbreedingCoeff=0.1429;MLEAC=3,1,3;MLEAF=0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=20.82;ReadPosRankSum=-1.580e-01;SOR=0.515	GT:AD:DP:GQ:PL	0/0:36,0,0,0:36:99:0,102,1530,102,1530,1530,102,1530,1530,1530	15	1	1	0
chr17	57979256	57979258	TGC	-	exonic	VEZF1	.	nonframeshift deletion	VEZF1:NM_007146:exon5:c.1032_1034del:p.Q354del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	13884.97	34	chr17	57979243	.	TTGCTGCTGCTGCTGC	T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	13884.97	.	AC=3,1,3;AF=0.071,0.024,0.071;AN=42;BaseQRankSum=0.439;DP=1522;ExcessHet=0.2785;FS=3.274;InbreedingCoeff=0.1429;MLEAC=3,1,3;MLEAF=0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=20.82;ReadPosRankSum=-1.580e-01;SOR=0.515	GT:AD:DP:GQ:PL	0/0:36,0,0,0:36:99:0,102,1530,102,1530,1530,102,1530,1530,1530	15	1	1	0
chr17	57979258	57979258	-	TGC	exonic	VEZF1	.	nonframeshift insertion	VEZF1:NM_007146:exon5:c.1031_1032insGCA:p.Q354_H355insQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	13884.97	34	chr17	57979243	.	TTGCTGCTGCTGCTGC	T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	13884.97	.	AC=3,1,3;AF=0.071,0.024,0.071;AN=42;BaseQRankSum=0.439;DP=1522;ExcessHet=0.2785;FS=3.274;InbreedingCoeff=0.1429;MLEAC=3,1,3;MLEAF=0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=20.82;ReadPosRankSum=-1.580e-01;SOR=0.515	GT:AD:DP:GQ:PL	0/0:36,0,0,0:36:99:0,102,1530,102,1530,1530,102,1530,1530,1530	15	1	1	0
chr17	58195171	58195171	G	A	splicing	EPX	NM_000502:exon6:c.801+1G>A	.	.	.	.	2	1503	15	2	0	19	0.00628099	1.0000	0.926	778283	Eosinophil_peroxidase_deficiency|not_provided	MONDO:MONDO:0043364,MedGen:C1850000,OMIM:261500|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.058	16.21	3.4	1.175	9.178	11.675	.	.	0.0025	0.00179712	0.0020	0.0002	0.0010	0	0.0027	0.0026	0.0022	0.0019	0.0020246	313	154602	rs34599426	0.0026	0.0027	0.0026	0.0026	0.0074	0.0026	0.0025	0.0056	0.0050	0.0016	0.0016	3.828e-05	0	0.0021	0.0074	0.0029	0.0026	0.0021	0.0019	0.0019	0.0020	0.0018	0.0029	0.0017	0.0017	0.0026	0.0025	0.0006	0	0.0021	0	0	0.0026	0.0034	0.0029	0.0019	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0659237	0.41977	T	0.133482	0.79120	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.802340	0.95754	35	0.98478825570724715	0.41954	0.99368	0.95115	D	AEFDBI	.	.	.	1.01214186824273	0.96105	14.30798	0.811249450674583	0.90567	10.46526	0.00594013565053865	0.11083	0.032271	0.00213	1	0.059962	0.00310	0	0.044551	0.00207	1	0.058706	0.01089	0	0.872305	0.53960	4.38	3.4	0.38031	9.558000	0.97240	7.461000	0.59055	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.922000	0.45779	0.0:0.0:0.8213:0.1787	11.675	0.50686	550	0.72197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	693.98	39	chr17	58195171	.	G	A	693.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.65;DP=630;ExcessHet=0.0000;FS=1.771;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.42;ReadPosRankSum=-1.227e+00;SOR=1.402	GT:AD:DP:GQ:PL	0/0:35,0:35:84:0,84,1260	20	0	1	0
chr17	58197059	58197059	T	C	exonic	EPX	.	nonsynonymous SNV	EPX:NM_000502:exon7:c.T922C:p.F308L,	.	.	0	1480	39	3	0	45	0.014975	.	.	727311	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.999	D	0.971	D	0.000	D	1.000	D	3.165	M	-0.5	T	0.227	D	0.497	T	0.738	4.289	22.4	4.86	1.951	7.996	12.705	0.785	0.0725778896181	0.0062	0.00279553	0.0067	0.0014	0.0029	0	0.0092	0.0087	0.0055	0.0072	0.0064488	997	154602	rs149610649	0.0076	0.0076	0.0076	0.0076	0.0160	0.0075	0.0074	0.0133	0.0123	0.0010	0.0027	0.0123	0	0.0085	0.0160	0.0081	0.0077	0.0075	0.0057	0.0057	0.0057	0.0057	0.0078	0.0054	0.0053	0.0073	0.0071	0.0012	0.0450	0.0035	0.0118	0.0002	0.0093	0.0068	0.0078	0.0071	0.0068	0.002	0.72154	D	0.026	0.55759	D	0.999	0.77913	D	0.971	0.72444	D	0.000001	0.84330	D	0.095382	0.999989	0.54805	D	3.06	0.86941	M	-0.5	0.70480	T	-5.7	0.87380	D	0.824	0.81957	0.227	0.86358	D	0.497	0.80975	T	10	0.043982953	0.03305	T	0.072578	0.71569	D	0.785	0.92868	0.886	0.97130	0.875175159558	0.87395	0.8966915860879832	0.89640	0.590118309936	0.54487	0.703837811947	0.67699	T	0.688804	0.90932	D	-0.150836	0.28180	T	0.0162486	0.71388	D	0.0189775306159021	0.00606	T	0.958004	0.84234	D	0.90420324	0.91761	0.86362016	0.92427	0.90420324	0.91763	0.86362016	0.92427	-10.47	0.76675	D	0.5205915827010262	0.59292	0.987	0.92737	P	.	.	4.327384	0.66282	24.9	0.99858997963407858	0.93729	0.97996	0.78734	D	AEFDGBI	0.921197	0.89430	D	0.79900771499237	0.86044	8.760883	0.714295999287583	0.83462	8.028341	0.477847431519886	0.20760	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.86	4.86	0.62624	6.221000	0.72188	5.069000	0.47160	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:0.0:1.0	12.705	0.56423	557	0.71576	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	4596.98	37	chr17	58197059	.	T	C	4596.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.300e-01;DP=1099;ExcessHet=0.0000;FS=1.744;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.41;ReadPosRankSum=1.00;SOR=0.828	GT:AD:DP:GQ:PL	0/1:220,183:403:99:4611,0,5733	20	0	1	0
chr17	58203086	58203086	A	T	exonic	EPX	.	nonsynonymous SNV	EPX:NM_000502:exon11:c.A1714T:p.N572Y,	.	.	1	1414	102	5	0	112	0.0380952	.	.	704251	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.993	D	0.000	D	1.000	D	3.57	H	-0.89	T	0.222	D	0.428	T	0.899	4.113	21.2	5.83	2.231	5.949	14.155	0.714	.	0.0052	0.0131789	0.0097	0.0010	0.0026	0.0404	0.0005	0.0057	0.0100	0.0242	0.0090426	1398	154602	rs2302311	0.0072	0.0072	0.0066	0.0079	0.0356	0.0071	0.0071	0.0341	0.0335	0.0011	0.0028	0.0041	0.0356	0.0005	0.0262	0.0055	0.0089	0.0238	0.0060	0.0060	0.0057	0.0064	0.0363	0.0057	0.0056	0.0320	0.0304	0.0013	0.0175	0.0037	0.0063	0.0363	0.0005	0.0136	0.0064	0.0052	0.0255	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.81110	D	0.000087	0.51296	D	0.229393	0.999894	0.50595	D	3.395	0.91620	M	-0.89	0.74793	T	-7.26	0.94377	D	0.855	0.85132	0.222	0.86286	D	0.428	0.77055	T	10	0.011209935	0.00246	T	.	.	.	0.714	0.89831	.	.	0.907641921367	0.90672	0.9397424012326949	0.93955	0.60966715383	0.55685	0.618428587914	0.55507	T	0.73717	0.92690	D	0.0215653	0.54591	T	0.293971	0.87906	D	0.0441071641916809	0.04439	T	0.918408	0.70674	D	0.93080324	0.94318	0.9297195	0.97075	0.91762865	0.93020	0.9297195	0.97076	-10.78	0.78437	D	0.6057418395158497	0.67300	0.721	0.73813	P	.	.	4.624316	0.73463	26.0	0.9931117169918775	0.59017	0.98284	0.81251	D	AEFDHI	0.846482	0.76336	D	0.902057263412658	0.91858	11.10306	0.8354303646208	0.92136	11.25628	0.995667577349472	0.34254	0.533608	0.22052	0	0.593476	0.48661	0	0.685742	0.62368	0	0.613276	0.41899	0	.	.	5.83	5.83	0.93059	5.936000	0.69869	9.239000	0.79409	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	14.155	0.64945	569	0.70546	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	2291.68	36	chr17	58203086	.	A	T	2291.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.937;DP=835;ExcessHet=0.3300;FS=3.309;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=0.915;SOR=0.928	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1171	18	0	3	0
chr17	58266237	58266237	G	A	exonic	LPO	.	nonsynonymous SNV	LPO:NM_001160102:exon9:c.G1355A:p.R452H	.	.	428	1093	1	0	0	1	0.000457247	.	.	3284219	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.999	D	0.000	D	0.998	D	3.07	M	-0.55	T	0.118	D	0.552	D	0.761	4.301	22.5	5.08	1.532	1.205	8.316	0.614	0.107868567316	0.0005	0.000199681	0.0005	0	0.0004	0	0.0014	0.0007	0	0.0002	0.0005045	78	154602	rs144914036	0.0005	0.0005	0.0005	0.0004	0.0007	0.0004	0.0004	0.0005	0.0004	2.987e-05	0.0004	3.826e-05	2.519e-05	0.0009	0.0007	0.0005	0.0006	0.0003	0.0005	0.0005	0.0005	0.0006	0.0008	0.0004	0.0004	0.0005	0.0005	0.0001	0	0.0008	0	0	0.0010	0	0.0007	0.0005	0.0002	0.02	0.65419	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000298	0.46274	D	0.212137	0.99759	0.44019	D	3.165	0.88605	M	-0.55	0.71068	T	-3.55	0.69714	D	0.463	0.51672	0.118	0.84505	D	0.552	0.83593	D	10	0.2064774	0.36910	T	0.107869	0.78414	D	0.614	0.84932	.	.	0.957988079707	0.95753	0.5389930559007877	0.53824	0.816803305336	0.66976	0.435493379831	0.29961	T	0.685653	0.90813	D	-0.0980441	0.36748	T	0.00335791	0.70554	D	0.225530281662941	0.21737	T	0.952005	0.81587	D	0.5457272	0.69717	0.45098782	0.68054	0.5457272	0.69718	0.45098782	0.68054	-8.464	0.64191	D	.	.	0.173	0.54732	B	.;.;.;.	.;.;.;.	5.212178	0.87464	29.2	0.99952680628537804	0.99957	0.81248	0.40692	D	AEFDBHCIJ	0.530623	0.55124	D	0.667136978005332	0.77481	6.683108	0.605679568123698	0.75352	6.295324	0.200164783203943	0.18113	0.623552	0.39893	0	0.59043	0.45803	0	0.667671	0.60360	0	0.542086	0.14980	0	.	.	6.06	5.08	0.68373	3.012000	0.49262	7.625000	0.62478	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0805:0.3021:0.6174:0.0	8.316	0.31263	314	0.87270	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2631.98	34	chr17	58266237	.	G	A	2631.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.049;DP=920;ExcessHet=0.0000;FS=0.479;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=1.71;SOR=0.757	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1309	20	0	1	0
chr17	58273567	58273567	T	C	exonic	MPO	.	nonsynonymous SNV	MPO:NM_000250:exon9:c.A1468G:p.I490V,	Myeloperoxidase deficiency, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.006	B	0.013	B	0.000	D	0.922	D	0.405	N	-0.87	T	-0.897	T	0.174	T	0.147	0.225	5.215	4.27	1.792	3.358	7.606	0.135	0.0181513887736	.	0.00159744	0.0005	0	0	0	0	0	0	0.0035	0.0004204	65	154602	rs538178599	0.0002	0.0002	9.256e-05	0.0003	0.0035	0.0002	0.0002	0.0032	0.0030	0	0	0	0	0	0	0	0.0001	0.0035	0.0001	0.0001	7.708e-05	0.0001	0.0033	6.506e-05	5.318e-05	0.0021	0.0017	0	0	0	0	0	0	0	0	0	0.0033	0.791	0.03192	T	0.621	0.07419	T	0.006	0.13644	B	0.013	0.16460	B	0.000003	0.62929	D	0.059563	0.921684	0.36696	D	0.15	0.08895	N	-0.87	0.74583	T	-0.03	0.07444	N	0.329	0.36989	-0.8973	0.48264	T	0.174	0.51658	T	10	0.010801494	0.00239	T	0.018151	0.40116	T	0.135	0.36572	0.75	0.88071	0.615496883321	0.61239	0.5618667441443427	0.56113	0.305408977561	0.32842	0.655335009098	0.60743	T	0.226093	0.59101	T	-0.427747	0.01530	T	-0.388678	0.34706	T	0.0600071454431362	0.07169	T	0.590841	0.21745	T	0.27013588	0.50085	0.117394745	0.28340	0.23919298	0.46807	0.13531189	0.32399	-4.471	0.30507	T	0.11085572483611557	0.09413	0.097	0.15698	B	.	.	2.483586	0.32028	18.92	0.82232657354262595	0.14086	0.81896	0.41211	D	ALL	0.206250	0.33253	N	-0.529008226682259	0.21147	1.120119	-0.393271886115977	0.25196	1.384223	0.99999959945673	0.74766	0.693307	0.56506	0	0.658952	0.61834	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	4.27	4.27	0.50009	3.472000	0.52879	3.497000	0.38753	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.842000	0.39752	0.0:0.095:0.0:0.905	7.606	0.27269	316	0.87161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2412.98	33	chr17	58273567	.	T	C	2412.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.482e+00;DP=930;ExcessHet=0.0000;FS=2.980;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.77;ReadPosRankSum=-3.700e-01;SOR=0.547	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1402	20	0	1	0
chr17	58312003	58312003	G	A	exonic	TSPOAP1	.	nonsynonymous SNV	TSPOAP1:NM_024418:exon16:c.C2638T:p.P880S	.	.	422	1093	6	1	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.502	P	0.262	B	0.009	N	0.957	N	1.1	L	3.68	T	-1.017	T	0.101	T	0.121	2.716	15.04	4.95	2.474	3.247	11.092	0.070	0.00566992452187	0.0002	0.000199681	0.0003	9.827e-05	0.0003	0	0	0.0002	0.0012	0.0006	0.0002199	34	154602	rs138562714	0.0002	0.0002	0.0002	0.0003	0.0050	0.0002	0.0002	0.0036	0.0031	0.0003	0.0005	3.832e-05	0	1.893e-05	0.0050	0.0001	0.0005	0.0009	7.878e-05	7.873e-05	5.139e-05	0.0001	0.0001	4.493e-05	3.509e-05	5.843e-05	4.24e-05	2.406e-05	0	0.0001	0	0	0	0	0.0001	0.0005	0	0.248	0.17239	T	0.09	0.40267	T	0.502	0.37193	P	0.262	0.39564	B	0.009121	0.30503	N	0.351936	0.973814	0.26268	N	1.1	0.28011	L	3.68	0.04151	T	0.03	0.06612	N	0.117	0.10626	-1.0166	0.24819	T	0.101	0.37468	T	10	0.06602779	0.08994	T	0.00567	0.14681	T	0.070	0.20419	.	.	0.425499470309	0.42167	0.18220160998265594	0.18139	0.216757167542	0.24195	0.391065776348	0.23819	T	0.011355	0.10143	T	-0.525978	0.00406	T	-0.632514	0.10224	T	0.0259778236304201	0.01402	T	0.623338	0.24021	T	0.074781075	0.16806	0.070836164	0.15097	0.074781075	0.16806	0.070836164	0.15097	-8.604	0.65116	D	.	.	0.096	0.15520	B	.;.;.	.;.;.	2.284995	0.29223	18.05	0.99098688200838247	0.52396	0.88102	0.47885	D	AEFDGBCI	0.626301	0.60917	D	-0.035955401307219	0.40231	2.385767	0.117364380548378	0.45437	2.806884	0.999987061470551	0.51787	0.660377	0.49826	0	0.694456	0.67091	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.95	4.95	0.64894	2.807000	0.47652	6.646000	0.56200	0.676000	0.76740	0.585000	0.27626	1.000000	0.68203	0.999000	0.91618	0.0853:0.0:0.9147:0.0	11.092	0.47339	310	0.87484	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1308.98	36	chr17	58312003	.	G	A	1308.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.990;DP=867;ExcessHet=0.0000;FS=1.650;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=-1.190e-01;SOR=0.888	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1455	20	0	1	0
chr17	58362569	58362569	C	T	exonic	RNF43	.	nonsynonymous SNV	RNF43:NM_001305545:exon5:c.G281A:p.R94Q	Sessile serrated polyposis cancer syndrome, Autosomal dominant	.	412	1101	9	0	0	9	0.00407056	.	.	1158062	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.08	T	0.999	D	0.832	P	0.000	D	0.634	D	0.345	N	3.03	T	-1.054	T	0.004	T	0.427	4.720	26.3	5.43	2.546	1.896	6.712	0.092	.	0.0004	0.0119808	0.0053	0.0006	0.0005	0.0635	0	0.0002	0.0011	0.0040	0.0047671	737	154602	rs2285990	0.0025	0.0025	0.0024	0.0025	0.0732	0.0024	0.0024	0.0710	0.0701	0.0003	0.0004	0	0.0732	1.897e-05	0.0078	0.0001	0.0033	0.0034	0.0025	0.0025	0.0020	0.0030	0.0625	0.0023	0.0022	0.0569	0.0547	0.0003	0	0.0003	0	0.0625	0	0	0.0002	0.0033	0.0029	0.037	0.43085	D	0.058	0.51737	T	0.995	0.67487	D	0.586	0.50343	P	0.000327	0.45700	D	0.143641	0.634237	0.32817	D	2.045	0.56016	M	3.03	0.11839	T	-1.56	0.37759	N	0.162	0.31478	-1.0543	0.13225	T	0.004	0.01226	T	10	0.0034153461	0.00060	T	.	.	.	0.092	0.26621	.	.	0.361758802978	0.35793	0.5819916512828146	0.58128	0.485448467925	0.47424	0.428022623062	0.28939	T	0.101641	0.40859	T	-0.492579	0.00629	T	-0.435542	0.29307	T	0.0186628427300254	0.00580	T	0.839616	0.51418	T	0.1146076	0.27055	0.07755855	0.17290	0.10236735	0.24187	0.07755855	0.17289	-3.924	0.24980	T	.	.	0.115	0.24901	B	.;.;.;.;.;.	.;.;.;.;.;.	4.577423	0.72282	25.8	0.99919000861204932	0.98586	0.70449	0.34595	D	AEFDBI	0.114732	0.22587	N	0.331703696119902	0.57781	3.947035	0.407202300854773	0.62014	4.409869	0.999999989745851	0.74766	0.646311	0.45356	0	0.546412	0.12157	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	5.43	5.43	0.79006	1.986000	0.40299	3.374000	0.37954	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.1787:0.7285:0.0:0.0928	6.712	0.22469	308	0.87611	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1203.98	34	chr17	58362569	.	C	T	1203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=781;ExcessHet=0.0000;FS=0.802;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=1.36;SOR=0.821	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1011	20	0	1	0
chr17	58515000	58515000	T	C	exonic	MTMR4	.	nonsynonymous SNV	MTMR4:NM_001378066:exon3:c.A7G:p.R3G,	.	.	819	699	3	1	0	5	0.00356379	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	.	.	.	.	.	.	.	.	0.0006147	16	26028	rs535683624	0.0003	0.0002	0.0003	0.0004	0.0108	0.0003	0.0003	0.0095	0.0090	0	0	0	0	0	0.0049	6.694e-05	0.0009	0.0108	0.0003	0.0003	0.0002	0.0005	0.0096	0.0003	0.0002	0.0074	0.0066	2.413e-05	0	0	0	0	0	0	4.418e-05	0.0005	0.0096	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006149411	0.00138	T	.	.	.	.	.	.	.	0.102598925029	0.09809	.	.	.	.	.	.	.	.	.	.	-0.230386	0.16599	T	-0.56871	0.15567	T	.	.	.	0.256474	0.04006	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.02145	B	.	.	0.261285	0.06400	2.864	0.66979672290101289	0.08218	0.04218	0.09733	N	AEFDBCI	0.134457	0.25448	N	.	.	.	.	.	.	0.999999934891037	0.74766	0.518646	0.21542	1	0.405561	0.06353	1	0.239995	0.05000	1	0.657601	0.63696	0	.	.	3.9	-7.8	0.01078	-1.276000	0.02923	-1.361000	0.05622	-0.122000	0.13826	0.000000	0.06391	0.000000	0.08366	0.654000	0.32802	0.3702:0.1754:0.251:0.2034	0.430	0.00438	326	0.86709	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1701.98	41	chr17	58515000	.	T	C	1701.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.590e+00;DP=869;ExcessHet=0.0000;FS=0.576;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.38;ReadPosRankSum=-2.800e-02;SOR=0.702	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1246	20	0	1	0
chr17	58621692	58621692	C	T	exonic	TEX14	.	nonsynonymous SNV	TEX14:NM_001201457:exon5:c.G512A:p.R171Q	.	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.083	B	0.016	B	0.019	N	0.999	N	0.975	L	-1.3	T	-0.826	T	0.283	T	0.109	1.571	11.21	4.46	1.426	0.185	5.138	0.180	0.0373892045702	.	.	1.651e-05	0	0	0	0	3.004e-05	0	0	3.88e-05	6	154602	rs754550862	3.626e-05	3.625e-05	4.22e-05	3.025e-05	0.0002	2.828e-05	2.565e-05	3.373e-05	3.038e-05	0	0	0	2.519e-05	0	0.0002	4.407e-05	1.656e-05	1.159e-05	6.57e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.067	0.36113	T	0.259	0.23164	T	0.083	0.24734	B	0.016	0.17743	B	0.019246	0.27299	N	0.308600	0.999396	0.21260	N	2.52	0.73523	M	-1.37	0.80214	T	-1.96	0.45404	N	0.293	0.40364	-0.8260	0.53556	T	0.283	0.65527	T	10	0.19566026	0.35427	T	0.037389	0.57584	D	0.180	0.45073	0.462	0.53079	0.703799379039	0.70122	0.31919971671329583	0.31832	0.0600646549258	0.06680	0.236606776714	0.02493	T	0.091271	0.38760	T	-0.195428	0.21466	T	-0.410838	0.32128	T	0.123080186545849	0.14728	T	0.877812	0.59215	D	0.08897214	0.20774	0.07812065	0.17469	0.08897214	0.20774	0.07812065	0.17469	-4.221	0.27055	T	.	.	0.079	0.10691	B	.;.;.	.;.;.	1.549898	0.19867	14.48	0.99228385767075267	0.56151	0.34218	0.25015	N	AEFDBCI	0.083315	0.16879	N	-0.573285396068159	0.19759	1.036656	-0.449958273376406	0.23550	1.284853	0.98013832077411	0.30102	0.554377	0.28877	0	0.491513	0.07743	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.42	4.46	0.53567	0.263000	0.18247	0.333000	0.17304	-0.187000	0.09635	0.496000	0.26925	0.020000	0.20764	0.476000	0.28476	0.1467:0.6316:0.1422:0.0796	5.138	0.14276	406	0.82375	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1573.98	37	chr17	58621692	.	C	T	1573.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.136;DP=846;ExcessHet=0.0000;FS=1.446;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.01;ReadPosRankSum=-2.880e-01;SOR=0.665	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1368	20	0	1	0
chr17	58980462	58980462	C	T	exonic	PPM1E	.	nonsynonymous SNV	PPM1E:NM_014906:exon7:c.C1699T:p.P567S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.013	B	0.009	B	0.031	N	0.808	N	0.55	N	2.23	T	-1.069	T	0.030	T	0.126	2.160	13.18	3.61	1.443	3.899	13.227	0.036	0.00622595645897	.	0.000199681	2.475e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs577558425	1.094e-05	1.094e-05	5.445e-06	1.65e-05	0.0002	6.48e-06	5.24e-06	0.0001	8.645e-05	0	0	0	0	0	0	0	1.656e-05	0.0002	6.569e-06	6.562e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.006	0.61437	D	0.032	0.53426	D	.	.	.	.	.	.	0.031205	0.25200	N	0.447505	0.808485	0.29030	N	.	.	.	2.23	0.18083	T	-0.57	0.17210	N	0.206	0.22870	-1.0690	0.09634	T	0.030	0.12935	T	10	0.04867515	0.04351	T	0.006226	0.16317	T	0.036	0.09122	0.436	0.48828	0.043077524339	0.03247	0.22241287913413685	0.22156	0.13644305551	0.15394	0.362620264292	0.19767	T	.	.	.	-0.417966	0.01763	T	-0.578477	0.14680	T	0.28873473405838	0.24537	T	0.863714	0.56064	D	0.09726221	0.22923	0.10981942	0.26472	0.09726221	0.22922	0.10981942	0.26471	-2.937	0.09518	T	.	.	0.073	0.04558	B	.	.	3.394966	0.47027	22.4	0.99011801068337568	0.50377	0.95755	0.66016	D	AEFGBCI	0.464817	0.51315	N	-0.171343075956891	0.34331	1.958282	0.019091638684188	0.40602	2.425725	0.0606814847199611	0.15205	0.706298	0.61202	0	0.593476	0.48661	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.74	3.61	0.40494	3.062000	0.49664	5.057000	0.47051	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8084:0.1232:0.0685	13.227	0.59349	463	0.78548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1955.98	34	chr17	58980462	.	C	T	1955.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=843;ExcessHet=0.0000;FS=3.708;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=-8.240e-01;SOR=0.701	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1363	20	0	1	0
chr17	59155004	59155004	G	A	exonic	SKA2	.	nonsynonymous SNV	SKA2:NM_001100595:exon1:c.C80T:p.P27L,	.	.	434	1076	11	1	0	13	0.00600462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.037	B	0.024	B	.	.	1.000	D	.	.	.	.	-0.986	T	0.125	T	0.127	2.295	13.63	0.53	0.119	1.675	4.197	0.237	0.0198948607709	0.0026	0.00119808	0.0026	0.0006	0.0016	0	0	0.0036	0.0033	0.0030	0.0026132	404	154602	rs77282282	0.0034	0.0034	0.0034	0.0035	0.0043	0.0033	0.0033	0.0034	0.0034	0.0005	0.0016	0.0172	2.519e-05	0.0005	0.0043	0.0035	0.0034	0.0032	0.0026	0.0026	0.0026	0.0027	0.0037	0.0024	0.0023	0.0032	0.0031	0.0006	0.0175	0.0023	0.0161	0	0.0002	0	0.0036	0.0014	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.702818	0.81001	D	.	.	.	.	.	.	-10.0	0.98823	D	0.618	0.64393	-0.9863	0.33518	T	0.125	0.42945	T	7	0.01042515	0.00232	T	0.019895	0.42377	T	0.237	0.54074	.	.	0.349429436713	0.34558	.	.	.	.	0.348934918642	0.17766	T	.	.	.	-0.489614	0.00653	T	-0.473738	0.25114	T	0.0396309734099284	0.03624	T	0.647135	0.25820	T	.	.	.	.	.	.	.	.	-3.683	0.19067	T	.	.	0.135	0.29283	B	.;.	.;.	1.961696	0.24919	16.57	0.95534931734476136	0.27173	0.53036	0.29274	D	ALL	0.130745	0.24941	N	-0.249863423605621	0.31109	1.741104	-0.143701896069541	0.33650	1.927196	0.999999999947507	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	6.06	0.53	0.16296	1.728000	0.37727	2.559000	0.33304	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.322:0.0:0.5273:0.1507	4.197	0.09908	0	0.99858	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2280.98	34	chr17	59155004	.	G	A	2280.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.670e-01;DP=870;ExcessHet=0.0000;FS=2.794;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.26;ReadPosRankSum=1.84;SOR=0.508	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1197	20	0	1	0
chr17	59169796	59169796	C	T	exonic	PRR11	.	nonsynonymous SNV	PRR11:NM_018304:exon2:c.C44T:p.A15V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.301	B	0.056	B	0.007	N	0.822	N	0.975	L	.	.	-1.056	T	0.062	T	0.405	1.006	9.110	2.44	0.599	1.560	5.589	0.114	0.00161901112937	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.066	0.53072	T	0.301	0.32572	B	0.056	0.26147	B	0.006945	0.31695	N	0.217812	0.822301	0.28867	N	1.625	0.41611	L	.	.	.	-2.34	0.51811	N	0.39	0.43126	-1.0563	0.12698	T	0.062	0.25672	T	9	0.11810914	0.22321	T	0.001619	0.02625	T	0.114	0.32008	0.353	0.35246	0.463843524616	0.46008	0.21201986565364367	0.21117	0.141824913144	0.15982	0.511021375656	0.40365	T	0.043819	0.41619	T	-0.0114482	0.50063	T	-0.254221	0.49400	T	0.256090849637985	0.23143	T	0.738626	0.35686	T	0.08459607	0.19588	0.11864727	0.28640	0.08459607	0.19587	0.11864727	0.28640	-4.813	0.34743	T	.	.	0.225	0.49769	B	.;.;.;.;.	.;.;.;.;.	2.443984	0.31461	18.75	0.89075293381606413	0.18490	0.60566	0.31232	D	AEFBI	0.072834	0.14549	N	-0.400933454721085	0.25436	1.380793	-0.341455921876935	0.26773	1.481085	0.866941080532922	0.25337	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.5	2.44	0.28875	1.610000	0.36480	1.045000	0.23589	0.599000	0.40250	0.998000	0.41325	0.555000	0.25489	0.744000	0.35576	0.1941:0.704:0.0:0.1019	5.589	0.16571	0	0.99858	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	956.98	34	chr17	59169796	.	C	T	956.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=726;ExcessHet=0.0000;FS=2.638;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.75;ReadPosRankSum=-9.530e-01;SOR=1.153	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,101,1128	20	0	1	0
chr17	59169798	59169798	G	T	exonic	PRR11	.	stopgain	PRR11:NM_018304:exon2:c.G46T:p.E16X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	2.268	13.54	3.7	0.407	2.173	5.175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000343	0.45440	D	0.094927	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.179	0.19325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413012	0.90647	D	0.355487	0.90530	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.;.;.	High;.;.;.;.	7.406221	0.96484	36	0.99480377570600964	0.66850	0.30950	0.24214	N	AEFBI	0.045104	0.07337	N	-0.029964444194133	0.40502	2.406355	-0.232906983124571	0.30365	1.709045	0.929512644348992	0.26971	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.79	3.7	0.41607	2.200000	0.42358	7.178000	0.57743	-0.092000	0.16129	0.998000	0.41325	1.000000	0.68203	0.805000	0.37950	0.726:0.1808:0.0932:0.0	5.175	0.14458	0	0.99858	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	956.98	34	chr17	59169798	.	G	T	956.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=726;ExcessHet=0.0000;FS=2.638;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.75;ReadPosRankSum=-9.910e-01;SOR=1.153	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,101,1128	20	0	1	0
chr17	59697918	59697918	C	T	exonic	PTRH2	.	nonsynonymous SNV	PTRH2:NM_016077:exon2:c.G61A:p.V21I	Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, Autosomal recessive	.	431	1080	11	0	0	11	0.00506679	.	.	506067	PTRH2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.49	T	0.004	B	0.003	B	0.001	N	1.000	N	0.55	N	.	.	-1.075	T	0.062	T	0.083	1.109	9.524	4.61	0.739	3.690	15.415	0.070	0.00244028910284	0.0044	0.00219649	0.0042	0.0013	0.0025	0	0.0030	0.0063	0.0044	0.0014	0.0042626	659	154602	rs76310651	0.0051	0.0051	0.0053	0.0049	0.0160	0.0050	0.0050	0.0133	0.0123	0.0013	0.0030	0.0079	0	0.0040	0.0160	0.0057	0.0051	0.0015	0.0037	0.0037	0.0040	0.0033	0.0058	0.0034	0.0033	0.0054	0.0052	0.0011	0	0.0025	0.0066	0	0.0033	0.0170	0.0058	0.0057	0.0004	0.488	0.16793	T	0.288	0.21745	T	0.004	0.12183	B	0.003	0.08700	B	0.001459	0.38980	N	0.208574	0.999993	0.08975	N	0.895	0.22405	L	.	.	.	-0.37	0.13226	N	0.085	0.06190	-1.0746	0.08431	T	0.062	0.25744	T	9	0.007870734	0.00179	T	0.00244	0.04813	T	0.070	0.20419	.	.	0.372268306217	0.36840	0.1265693023315766	0.12582	0.0581026810352	0.06437	0.262676328421	0.05213	T	0.067176	0.33134	T	-0.536542	0.00351	T	-0.538355	0.18459	T	0.00313176158227098	0.00033	T	0.675332	0.28377	T	0.036266107	0.04428	0.044291425	0.05704	0.05368025	0.10194	0.058567204	0.10842	-4.129	0.25716	T	0.0901838421480545	0.05590	0.087	0.11558	B	.;.;.	.;.;.	1.796192	0.22833	15.78	0.87380798241664726	0.17186	0.97270	0.73702	D	AEFDBCI	0.312492	0.41791	N	-0.722503969275306	0.15390	0.7751858	-0.524870272630976	0.21479	1.162126	0.999999993744599	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.741806	0.99463	0	.	.	5.58	4.61	0.56724	3.747000	0.54853	5.989000	0.52298	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.654000	0.32802	0.0:0.8705:0.0:0.1295	15.415	0.74686	547	0.72440	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2367.98	33	chr17	59697918	.	C	T	2367.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.417e+00;DP=892;ExcessHet=0.0000;FS=1.768;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=-7.040e-01;SOR=0.863	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	20	0	1	0
chr17	59962562	59962562	A	G	exonic	RNFT1	.	nonsynonymous SNV	RNFT1:NM_016125:exon3:c.T569C:p.I190T,	.	.	.	.	.	.	.	.	.	.	.	2763131	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.999	D	0.922	D	0.000	D	1.000	D	1.895	L	0.52	T	-0.613	T	0.270	T	0.682	3.331	17.21	4.47	0.922	6.213	11.556	0.284	0.0504637234522	.	.	7.486e-05	0	0	0.0010	0	0	0	0	6.47e-05	10	154602	rs112835092	2.751e-05	2.941e-05	3.283e-05	2.213e-05	0.0006	2.073e-05	1.826e-05	0.0004	0.0003	0	2.296e-05	0	0.0006	0	0	8.112e-06	4.996e-05	5.924e-05	5.257e-05	5.253e-05	6.424e-05	4.035e-05	0.0006	2.557e-05	1.83e-05	0.0002	8.353e-05	2.413e-05	0	0	0	0.0006	0	0	4.41e-05	0	0.0002	0.003	0.68238	D	0.032	0.53426	D	0.999	0.77913	D	0.922	0.65739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.595	0.75868	M	0.52	0.55266	T	-3.83	0.72120	D	0.74	0.74007	-0.6133	0.64267	T	0.270	0.64182	T	10	0.16187298	0.30352	T	0.050464	0.64253	D	0.284	0.60219	0.701	0.83777	0.593030115291	0.58981	0.6606223438945141	0.65999	0.713788616662	0.61839	0.756062328815	0.75343	T	0.120266	0.44239	T	-0.195644	0.21433	T	-0.104246	0.63066	T	0.171955138444901	0.18712	T	0.729427	0.34485	T	0.5657898	0.70829	0.37784922	0.62876	0.5657898	0.70830	0.37784922	0.62875	-4.427	0.29921	T	.	.	0.589	0.68404	P	.;.	.;.	4.168649	0.62659	24.5	0.99767937365712323	0.85666	0.96967	0.71926	D	AEFGBI	0.699016	0.65650	D	0.0617481603067616	0.44684	2.738047	0.150962697325471	0.47194	2.953243	0.999986647116389	0.51787	0.651	0.46895	0	0.633656	0.55848	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.54	4.47	0.53770	5.380000	0.65953	11.214000	0.89510	-0.094000	0.16080	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.9299:0.0:0.0701:0.0	11.556	0.50001	254	0.90023	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1149.98	35	chr17	59962562	.	A	G	1149.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=795;ExcessHet=0.0000;FS=0.732;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.48;MQRankSum=-2.476e+00;QD=11.27;ReadPosRankSum=0.188;SOR=0.780	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr17	59964653	59964653	A	C	exonic	RNFT1	.	nonsynonymous SNV	RNFT1:NM_016125:exon1:c.T11G:p.F4C,	.	.	420	1097	4	1	0	6	0.00272727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.004	B	0.003	B	.	.	1.000	N	0.69	N	0.75	T	-1.023	T	0.064	T	0.213	2.349	13.81	-2.97	-0.778	0.543	0.946	0.029	.	0.0015	0.00279553	0.0023	0.0005	0.0016	0.0076	0	0.0021	0.002	0.0016	0.0015718	243	154602	rs200050289	0.0020	0.0020	0.0021	0.0019	0.0040	0.0020	0.0019	0.0027	0.0023	0.0006	0.0011	0.0021	0.0024	9.508e-05	0.0040	0.0021	0.0035	0.0014	0.0016	0.0016	0.0018	0.0014	0.0058	0.0014	0.0013	0.0042	0.0036	0.0007	0	0.0012	0.0012	0.0058	0	0.0034	0.0022	0.0019	0.0010	0.0	0.91255	D	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.20249	N	1.1	0.28011	L	0.75	0.50192	T	-0.99	0.26200	N	0.417	0.45709	-1.0233	0.22638	T	0.064	0.26385	T	9	0.0041981637	0.00083	T	.	.	.	0.029	0.06676	.	.	0.21279746466	0.20884	0.195549915001044	0.19471	0.217205961561	0.24235	0.51261395216	0.40587	T	0.013214	0.11472	T	-0.483325	0.00708	T	-0.464982	0.26060	T	0.101485869324068	0.12519	T	0.481652	0.14579	T	0.2342145	0.46238	0.24625848	0.50131	0.2342145	0.46238	0.24625848	0.50130	-3.764	0.20268	T	.	.	0.168	0.56818	B	.;.	.;.	1.884920	0.23939	16.21	0.70552309634704746	0.09333	0.09551	0.15282	N	ALL	0.080924	0.16368	N	-1.11891456836344	0.06307	0.289972	-1.20401182359561	0.05845	0.279665	0.99999999997961	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.08	-2.97	0.05195	0.398000	0.20624	0.706000	0.20886	0.733000	0.85838	0.006000	0.17386	0.000000	0.08366	0.068000	0.16518	0.3751:0.1643:0.3007:0.1599	0.946	0.01279	251	0.90153	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	506.98	38	chr17	59964653	.	A	C	506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.79;DP=798;ExcessHet=0.0000;FS=8.123;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.35;ReadPosRankSum=0.505;SOR=1.828	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1036	20	0	1	0
chr17	60183298	60183298	A	C	exonic	USP32	.	nonsynonymous SNV	USP32:NM_032582:exon31:c.T3990G:p.D1330E,	.	.	436	1067	19	0	0	19	0.0088249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.0	B	0.001	B	0.000	N	1.000	D	0.345	N	1.01	T	-1.084	T	0.045	T	0.095	1.244	10.05	0.908	-0.124	-0.970	1.977	0.051	.	0.0004	0.00339457	0.0024	0	0.0005	0	0.0002	0.0005	0.0033	0.0153	0.0021345	330	154602	rs201933998	0.0012	0.0012	0.0008	0.0017	0.0146	0.0012	0.0012	0.0140	0.0137	5.975e-05	0.0004	0.0020	0	0.0003	0.0049	0.0003	0.0017	0.0146	0.0009	0.0009	0.0006	0.0011	0.0149	0.0007	0.0007	0.0121	0.0111	9.62e-05	0	0.0008	0.0029	0	0.0004	0	0.0004	0.0009	0.0149	0.562	0.06341	T	0.776	0.04965	T	0.0	0.02946	B	0.001	0.04355	B	0.000066	0.52346	N	0.196730	0.775016	0.29395	N	-0.375	0.03072	N	1.01	0.41058	T	-0.54	0.16598	N	0.097	0.13626	-1.0843	0.06535	T	0.045	0.19397	T	10	0.0035755932	0.00065	T	.	.	.	0.051	0.14325	0.431	0.48007	0.218628672733	0.21463	0.12745906263928541	0.12671	0.517425013995	0.49607	0.394037008286	0.24237	T	0.022677	0.17443	T	-0.664851	0.00059	T	-0.716113	0.04985	T	0.00970801338553429	0.00127	T	0.657134	0.26688	T	0.020675551	0.00635	0.029880913	0.01377	0.020675551	0.00634	0.029880913	0.01376	-3.045	0.10674	T	.	.	0.089	0.12132	B	.;.	.;.	-0.962295	0.00826	0.028	0.94168662651421975	0.24380	0.07690	0.13694	N	AEFBI	0.066555	0.13039	N	-0.789202420597743	0.13591	0.6706229	-0.685935860505343	0.17312	0.9199886	9.63617271352789E-6	0.01202	0.706548	0.73137	0	0.653731	0.59785	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.78	0.908	0.18455	-0.954000	0.03983	-2.545000	0.03625	-0.057000	0.16691	0.013000	0.18845	0.000000	0.08366	0.638000	0.32368	0.3773:0.3003:0.2168:0.1056	1.977	0.03210	482	0.77288	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1739.98	36	chr17	60183298	.	A	C	1739.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.16;DP=805;ExcessHet=0.0000;FS=0.722;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.54;ReadPosRankSum=-1.040e-01;SOR=0.804	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1164	20	0	1	0
chr17	60214624	60214624	C	T	exonic	USP32	.	nonsynonymous SNV	USP32:NM_032582:exon17:c.G2018A:p.S673N,	.	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.192	B	0.038	B	0.000	D	1.000	D	0.14	N	0.88	T	-1.082	T	0.046	T	0.316	1.983	12.59	5.39	2.539	5.994	19.155	0.107	0.0169414887257	0.0037	0.00359425	0.0025	0.0032	0.0029	0	0.0006	0.0034	0.0044	0.0002	0.0004334	67	154602	rs145100882	0.0029	0.0029	0.0029	0.0028	0.0034	0.0028	0.0028	0.0031	0.0031	0.0034	0.0030	0.0041	0	0.0006	0.0031	0.0032	0.0031	0.0005	0.0033	0.0033	0.0033	0.0034	0.0054	0.0031	0.0030	0.0045	0.0041	0.0036	0	0.0054	0.0075	0	0.0006	0	0.0034	0.0061	0.0004	0.439	0.09291	T	0.515	0.10643	T	0.192	0.29441	B	0.038	0.23361	B	0.000000	0.84330	D	0.000000	0.999935	0.51612	D	0.205	0.09354	N	0.88	0.64630	T	-0.27	0.11366	N	0.813	0.82862	-1.0819	0.06984	T	0.046	0.19879	T	10	0.0094648	0.00213	T	0.016941	0.38428	T	0.107	0.30369	.	.	0.406146819375	0.40232	0.4046660478698234	0.40382	1.92396519443	0.93020	0.841219186783	0.88280	D	0.019184	0.15329	T	-0.375461	0.03326	T	-0.314521	0.43171	T	0.024950035593921	0.01266	T	0.915408	0.69775	D	0.2175455	0.44241	0.17208616	0.39438	0.2175455	0.44241	0.17208616	0.39437	-8.417	0.63878	D	.	.	0.185	0.54477	B	.;.;.;.	.;.;.;.	3.829109	0.55335	23.6	0.95241863368645463	0.26487	0.96309	0.68510	D	AEFI	0.579273	0.58014	D	-0.0512052293758373	0.39548	2.33402	0.172975533842135	0.48370	3.053967	0.99233394173267	0.32802	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.39	5.39	0.77615	6.076000	0.70901	7.668000	0.64620	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.155	0.93491	704	0.57414	Ubiquitin-like domain, USP-type;Ubiquitin-like domain, USP-type;Ubiquitin-like domain, USP-type;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	613.98	34	chr17	60214624	.	C	T	613.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=738;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=42.52;MQRankSum=-2.876e+00;QD=9.16;ReadPosRankSum=0.281;SOR=0.656	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1085	20	0	1	0
chr17	61400360	61400360	G	A	exonic	TBX2	.	nonsynonymous SNV	TBX2:NM_005994:exon1:c.G184A:p.A62T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.805	P	0.483	P	0.716	N	0.599	N	0	N	-2.12	D	-0.272	T	0.474	T	0.286	3.864	19.63	3.28	1.671	1.214	13.75	0.292	0.977924586587	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1221726143	7.932e-06	1.916e-05	1.277e-05	2.423e-06	8.8e-06	3.3e-06	2.12e-06	3.66e-06	2.35e-06	0	0	0	0	0	0	8.8e-06	0	0	2.722e-05	3.303e-05	3.975e-05	1.4e-05	0.0001	8.36e-06	5.29e-06	2.33e-05	9.33e-06	0	0	0.0001	0	0	0	0	3.029e-05	0	0	0.087	0.32453	T	0.453	0.12848	T	0.805	0.45210	P	0.483	0.47159	P	0.716483	0.06288	N	1.150880	0.598948	0.30957	N	0	0.06538	N	-2.12	0.86283	D	0.01	0.06868	N	0.282	0.31925	-0.2722	0.75752	T	0.474	0.79810	T	10	0.48654902	0.60743	T	0.977925	0.99878	D	0.292	0.61157	0.414	0.45216	0.546761817766	0.54331	0.22290548280792385	0.22205	.	.	0.904126763344	0.96884	D	0.250783	0.62093	T	-0.0306715	0.47319	T	-0.281834	0.46617	T	0.627957403659821	0.37534	D	0.524548	0.17205	T	0.1012658	0.23918	0.13372424	0.32060	0.1012658	0.23918	0.13372424	0.32059	-9.022	0.67839	D	.	.	0.187	0.40376	B	.	.	3.923545	0.57294	23.8	0.99651079982805268	0.77317	0.73632	0.36016	D	ALL	.	.	.	-0.0321628861953934	0.40403	2.39874	0.0181342495455154	0.40557	2.42235	0.99999999999986	0.74766	0.623204	0.39778	0	0.578056	0.33634	0	0.378051	0.06126	2	0.562822	0.20929	0	.	.	3.28	3.28	0.36691	0.839000	0.27239	6.296000	0.55406	0.488000	0.22294	0.953000	0.33222	1.000000	0.68203	0.046000	0.14843	0.0:0.0:1.0:0.0	13.75	0.62385	239	0.90673	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3681.98	22	chr17	61400360	.	G	A	3681.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=920;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.32;ReadPosRankSum=-1.997e+00;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:47,0:47:99:.:.:0,116,1500	20	0	1	0
chr17	61400363	61400363	G	T	exonic	TBX2	.	nonsynonymous SNV	TBX2:NM_005994:exon1:c.G187T:p.A63S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.821	P	0.515	P	0.832	N	0.996	N	0	N	-2.11	D	-0.608	T	0.421	T	0.336	1.729	11.74	3.28	1.671	2.468	9.952	0.265	0.932620018035	.	.	.	.	.	.	.	.	.	.	.	.	.	rs901242277	7.989e-06	8.237e-06	1.284e-05	2.445e-06	8.857e-06	3.32e-06	2.14e-06	3.68e-06	2.37e-06	0	0	0	0	0	0	8.857e-06	0	0	2.753e-05	3.341e-05	4.02e-05	1.416e-05	0.0001	8.43e-06	5.34e-06	2.345e-05	9.38e-06	0	0	0.0001	0	0	0	0	3.031e-05	0	0	0.217	0.19157	T	0.867	0.03342	T	0.821	0.45737	P	0.515	0.48040	P	0.831793	0.09100	N	0.912848	0.995533	0.23266	N	1.43	0.35840	L	-2.11	0.86216	D	0.3	0.04091	N	0.343	0.38438	-0.6078	0.64495	T	0.421	0.76650	T	10	0.40918761	0.56105	T	0.93262	0.99514	D	0.265	0.57870	0.428	0.47515	0.464345556596	0.46058	0.2478413834623592	0.24698	.	.	0.905736804008	0.97051	D	0.240296	0.60859	T	0.00431797	0.52249	T	-0.231574	0.51619	T	0.338563054800034	0.26566	T	0.424958	0.11391	T	0.04601881	0.07631	0.06793589	0.14122	0.04601881	0.07630	0.06793589	0.14122	-8.564	0.64852	D	.	.	0.155	0.34227	B	.	.	3.465806	0.48328	22.6	0.96698453990213407	0.30766	0.91926	0.54563	D	ALL	.	.	.	-0.0590760002710713	0.39197	2.307713	-0.00134506166747328	0.39655	2.354539	0.999999994681046	0.74766	0.623204	0.39778	0	0.578056	0.33634	0	0.378051	0.06126	2	0.562822	0.20929	0	.	.	3.28	3.28	0.36691	1.533000	0.35645	5.414000	0.48546	0.488000	0.22294	0.966000	0.33990	1.000000	0.68203	0.058000	0.15825	0.0:0.0:1.0:0.0	9.952	0.40815	239	0.90673	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3679.98	20	chr17	61400363	.	G	T	3679.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=914;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.17;ReadPosRankSum=-3.411e+00;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:47,0:47:99:.:.:0,116,1500	20	0	1	0
chr17	61482948	61482948	C	A	exonic	TBX4	.	nonsynonymous SNV	TBX4:NM_018488:exon8:c.C1070A:p.A357D	Ischiocoxopodopatellar syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.973	D	0.503	P	0.492	N	0.987	D	1.61	L	-2.08	D	-0.109	T	0.656	D	0.54	4.477	24.0	5.51	2.590	5.723	18.412	0.368	0.0547000327402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.187	0.35330	T	0.023	0.18885	B	0.021	0.19346	B	0.491978	0.05041	N	1.281820	0.986714	0.40475	D	1.7	0.43825	L	-2.08	0.86010	D	-0.54	0.16799	N	0.366	0.48319	-0.1090	0.79891	T	0.656	0.88053	D	9	0.2552109	0.42910	T	0.055	0.65957	D	0.368	0.68757	0.151	0.05441	0.933814490104	0.93313	0.2766086613251762	0.27573	0.959871687337	0.72960	0.520578861237	0.41708	T	0.121597	0.44467	T	0.0941023	0.63649	D	-0.102605	0.63196	T	0.929798305034637	0.59408	D	0.877412	0.59112	D	0.31615222	0.54313	0.37981102	0.63028	0.31615222	0.54313	0.37981102	0.63027	-4.286	0.31627	T	.	.	0.237	0.47072	B	.;.;.;.	.;.;.;.	4.399062	0.67958	25.2	0.99754314975508318	0.84537	0.92732	0.56411	D	AEFGBCI	0.776500	0.70959	D	0.289896529528185	0.55635	3.727582	0.393961313615113	0.61191	4.315912	0.999999999918383	0.74766	0.486886	0.10167	0	0.586423	0.34054	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	5.51	5.51	0.81769	5.802000	0.68783	7.644000	0.63345	0.599000	0.40250	0.981000	0.35396	1.000000	0.68203	0.827000	0.38976	0.0:1.0:0.0:0.0	18.412	0.90499	202	0.92131	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	74.98	35	chr17	61482948	.	C	A	74.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.511;DP=796;ExcessHet=0.0000;FS=16.070;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.71;ReadPosRankSum=-1.270e-01;SOR=3.883	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,120,1800	20	0	1	0
chr17	61482950	61482950	C	A	exonic	TBX4	.	nonsynonymous SNV	TBX4:NM_018488:exon8:c.C1072A:p.P358T	Ischiocoxopodopatellar syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	B	0.016	B	0.001	D	0.914	N	-1.1	N	1.31	T	-1.018	T	0.022	T	0.259	1.150	9.682	0.745	0.280	0.770	3.460	0.050	0.0117602398044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.324	0.18903	T	0.043	0.21573	B	0.016	0.17743	B	0.000572	0.43250	D	0.241563	0.913547	0.27454	N	0.345	0.11182	N	1.31	0.35405	T	-0.48	0.15379	N	0.045	0.01740	-1.0184	0.24236	T	0.022	0.09375	T	9	0.045273572	0.03580	T	0.01176	0.29704	T	0.050	0.13987	0.197	0.10975	0.344251166708	0.34027	0.22064606918352886	0.21979	0.483913800364	0.47323	0.48894956708	0.37292	T	0.050131	0.28506	T	-0.207879	0.19678	T	-0.53638	0.18654	T	0.0987749397754669	0.12221	T	0.855914	0.55137	D	0.054056205	0.10320	0.046087235	0.06345	0.054056205	0.10319	0.046087235	0.06345	-4.83	0.35847	T	.	.	0.059	0.00890	B	.;.;.;.	.;.;.;.	1.648174	0.21029	15.02	0.93836910200670254	0.23827	0.31274	0.24296	N	AEFGBCI	0.161425	0.28748	N	-0.829504460694452	0.12560	0.6129927	-0.686056830634655	0.17309	0.9198068	0.329561285526765	0.19471	0.486886	0.10167	0	0.586423	0.34054	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	5.51	0.745	0.17509	0.772000	0.26309	0.767000	0.21364	0.599000	0.40250	0.356000	0.25809	0.240000	0.23845	0.758000	0.36073	0.0:0.3116:0.2107:0.4778	3.460	0.07095	202	0.92131	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	74.98	35	chr17	61482950	.	C	A	74.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.902e+00;DP=813;ExcessHet=0.0000;FS=16.070;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.71;ReadPosRankSum=0.315;SOR=3.883	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,120,1800	20	0	1	0
chr17	61591165	61591165	T	C	exonic	NACA2	.	nonsynonymous SNV	NACA2:NM_199290:exon1:c.A16G:p.T6A,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	B	0.098	B	0.000	U	0.888	N	1.87	L	0.93	T	-1.053	T	0.059	T	0.07	1.263	10.12	-0.473	-0.201	1.605	.	0.136	0.0074903302915	0.0028	0.00219649	0.0008	0.0087	0.0002	0	0	1.501e-05	0	0	0.0007374	114	154602	rs61748811	0.0003	0.0003	0.0003	0.0003	0.0106	0.0003	0.0003	0.0097	0.0094	0.0106	0.0005	0	0	0	0.0005	1.888e-05	0.0006	4.637e-05	0.0027	0.0027	0.0027	0.0026	0.0093	0.0025	0.0024	0.0086	0.0083	0.0093	0	0.0011	0	0	0	0	1.47e-05	0.0005	0	0.019	0.50132	D	0.378	0.16086	T	0.235	0.30743	B	0.098	0.30479	B	0.000018	0.62929	U	0.000000	0.888373	0.27926	N	2.44	0.70756	M	0.93	0.44065	T	-0.48	0.15379	N	0.146	0.14763	-1.0533	0.13493	T	0.059	0.24612	T	8	0.0053554773	0.00117	T	0.00749	0.19872	T	0.136	0.36778	.	.	0.471132149292	0.46741	0.04184693754089481	0.04129	0.0680759038335	0.07622	0.535104095936	0.43754	T	0.003768	0.03181	T	-0.593227	0.00160	T	-0.616944	0.11426	T	0.0227777546327082	0.00997	T	0.630337	0.24523	T	0.07244374	0.16115	0.06925009	0.14568	0.07244374	0.16115	0.06925009	0.14567	-3.005	0.10235	T	.	.	0.070	0.03372	B	.	.	1.106180	0.14907	11.43	0.79337095667808788	0.12696	0.44154	0.27256	N	AEFGBHCI	0.112106	0.22172	N	-0.650035106640307	0.17460	0.8985971	-0.755235236220685	0.15594	0.8209147	0.0358712213691518	0.14220	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.542086	0.14980	0	.	.	0.753	-0.473	0.11508	1.755000	0.38008	1.298000	0.25456	-0.388000	0.05360	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	.	.	.	374	0.84073	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1866.98	35	chr17	61591165	.	T	C	1866.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.690e+00;DP=905;ExcessHet=0.0000;FS=0.567;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.55;ReadPosRankSum=0.830;SOR=0.626	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1212	20	0	1	0
chr17	61867572	61867572	A	T	exonic	INTS2	.	nonsynonymous SNV	INTS2:NM_001330417:exon25:c.T3576A:p.S1192R	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.815	P	0.571	P	0.000	D	0.999	D	1.1	L	0.73	T	-1.052	T	0.125	T	0.739	3.119	16.42	3.75	0.508	1.663	9.593	0.155	0.0331832097732	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.015	0.61642	D	0.815	0.45525	P	0.571	0.49890	P	0.000000	0.84330	D	0.038185	0.998624	0.45182	D	0.895	0.22405	L	0.73	0.50721	T	-1.27	0.31981	N	0.314	0.50327	-1.0515	0.13981	T	0.125	0.43008	T	9	0.1588819	0.29866	T	0.033183	0.54805	D	0.155	0.40530	0.23	0.15705	0.413198161389	0.40934	0.8807853389601046	0.88046	0.631884088958	0.57135	0.747660517693	0.74101	T	0.062991	0.32060	T	0.0587418	0.59456	T	-0.153398	0.58942	T	0.633145570755005	0.37749	D	0.914509	0.69499	D	0.74697816	0.80693	0.43452838	0.66969	0.74697816	0.80694	0.43452838	0.66969	-3.497	0.16389	T	.	.	0.859	0.82066	P	.;.;.;.	.;.;.;.	3.161345	0.42834	21.6	0.99733559554066675	0.82975	0.96809	0.71055	D	AEFBI	0.363669	0.45248	N	0.111139070074781	0.46981	2.930389	0.162876007886428	0.47829	3.007262	9.83887616474661E-4	0.08091	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.655142	0.61905	0	.	.	5.96	3.75	0.42236	1.638000	0.36780	2.641000	0.33754	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.8587:0.0:0.1413:0.0	9.593	0.38724	40	0.97949	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	309.98	37	chr17	61867572	.	A	T	309.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.18;DP=781;ExcessHet=0.0000;FS=4.315;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.08;ReadPosRankSum=-9.020e-01;SOR=1.414	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,117,1273	20	0	1	0
chr17	61968034	61968034	C	G	splicing	MED13	NM_005121:exon18:c.4191+1G>C	.	.	.	YES	.	.	.	.	.	.	.	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.639	25.4	5.44	2.535	7.487	19.245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.588e-05	0.0003	2.232e-05	2.945e-05	3.23e-05	1.91e-05	1.667e-05	2.345e-05	2.075e-05	3.058e-05	0	0	0	0	0	3.23e-05	1.685e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434982	0.91780	D	0.387045	0.91678	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.230299	0.94839	34	0.99425828103495784	0.63984	0.99078	0.90902	D	AEFDGBI	.	.	.	1.18346581302745	0.99385	22.32749	1.03762206024886	0.99231	21.357	0.999999999803192	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.128073	0.03558	0	0.089874	0.02613	0	0.978971	0.83387	5.44	5.44	0.79348	7.568000	0.81546	7.706000	0.66547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.245	0.93883	91	0.96221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	576.98	48	chr17	61968034	.	C	G	576.98	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-9.620e-01;DP=1240;ExcessHet=7.7275;FS=188.533;InbreedingCoeff=-0.4183;MLEAC=12;MLEAF=0.316;MQ=60.00;MQRankSum=0.00;QD=1.00;ReadPosRankSum=0.939;SOR=11.843	GT:AD:DP:GQ:PL	0/1:36,26:70:99:106,0,420	8	0	11	2
chr17	61992617	61992617	T	C	exonic	MED13	.	nonsynonymous SNV	MED13:NM_005121:exon11:c.A2186G:p.E729G,	.	.	425	1092	5	0	0	5	0.00228415	.	.	2808121	not_provided|MED13-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.006	B	0.004	B	0.027	N	1.000	D	1.59	L	-0.99	T	-0.609	T	0.256	T	0.295	3.720	18.89	5.66	2.167	6.474	15.901	0.217	0.0139553565965	0.0009	0.00119808	0.0011	0.0004	0.0004	0	0	0.0014	0.0011	0.0020	0.0011707	181	154602	rs78309726	0.0018	0.0019	0.0018	0.0018	0.0021	0.0018	0.0017	0.0021	0.0020	0.0004	0.0005	0.0002	0	3.746e-05	0.0012	0.0021	0.0016	0.0018	0.0010	0.0010	0.0012	0.0007	0.0019	0.0008	0.0008	0.0014	0.0013	0.0004	0	0.0003	0	0	0	0	0.0017	0.0009	0.0019	0.158	0.23905	T	0.032	0.53426	D	0.006	0.13644	B	0.004	0.10090	B	0.026745	0.25867	N	0.476464	0.999901	0.50806	D	1.65	0.42232	L	-0.99	0.75911	T	-2.04	0.46842	N	0.125	0.11769	-0.6092	0.64437	T	0.256	0.62586	T	10	0.007025838	0.00160	T	0.013955	0.33748	T	0.217	0.51112	.	.	0.231005064126	0.22704	0.19965252650421492	0.19882	0.214022663997	0.23940	0.429062694311	0.29081	T	0.057196	0.30498	T	-0.336316	0.05648	T	-0.259549	0.48869	T	0.0196209355880136	0.00665	T	0.823018	0.48339	T	0.106289566	0.25131	0.121901475	0.29409	0.106289566	0.25131	0.121901475	0.29408	-4.738	0.33860	T	.	.	0.124	0.26138	B	.	.	3.499906	0.48958	22.7	0.99785440304670825	0.87131	0.97737	0.76769	D	AEFBI	0.650471	0.62457	D	0.118235359990896	0.47315	2.958822	0.296996616933251	0.55364	3.69948	0.999596560820274	0.40745	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	5.66	5.66	0.87293	4.439000	0.59711	7.901000	0.73554	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.901	0.79162	191	0.92559	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1165.98	33	chr17	61992617	.	T	C	1165.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.285;DP=809;ExcessHet=0.0000;FS=4.391;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.48;ReadPosRankSum=-1.084e+00;SOR=1.032	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1207	20	0	1	0
chr17	62010836	62010836	A	G	exonic	MED13	.	nonsynonymous SNV	MED13:NM_005121:exon9:c.T1681C:p.Y561H,	.	.	422	1095	5	0	0	5	0.0022779	.	.	3212295	MED13-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.28	T	0.999	D	0.994	D	0.000	D	1.000	D	1.975	M	-0.91	T	-0.155	T	0.504	D	0.295	1.569	11.20	4.94	1.087	8.129	12.221	0.373	0.0766067936641	8.3e-05	0.000199681	0.0003	0	0.0003	0	0	0.0001	0.0011	0.0012	0.000207	32	154602	rs373796910	0.0002	0.0002	0.0001	0.0002	0.0033	0.0002	0.0001	0.0022	0.0018	0	8.944e-05	0	0	0	0.0033	5.306e-05	0.0004	0.0016	0.0001	0.0001	0.0001	0.0001	0.0012	8.162e-05	6.719e-05	0.0005	0.0004	2.406e-05	0	0.0003	0	0	0	0	7.349e-05	0.0009	0.0012	0.026	0.46910	D	0.001	0.83351	D	0.999	0.77913	D	0.994	0.82059	D	0.000006	0.62929	D	0.110970	0.999984	0.54805	D	2.165	0.60562	M	-0.91	0.75001	T	-1.41	0.34795	N	0.774	0.77132	-0.1546	0.78803	T	0.504	0.81295	D	10	0.25547162	0.42940	T	0.076607	0.72573	D	0.373	0.69188	.	.	0.424463159835	0.42065	0.4099128670844817	0.40907	0.840773140511	0.68051	0.792129397392	0.80767	T	0.225351	0.59005	T	-0.297553	0.08893	T	-0.219205	0.52814	T	0.0935145069661999	0.11628	T	0.929307	0.73951	D	0.12230217	0.28743	0.109002374	0.26264	0.12230217	0.28743	0.109002374	0.26263	-3.262	0.13252	T	.	.	0.322	0.54653	B	.	.	4.597109	0.72769	25.9	0.95017384593321652	0.25998	0.98965	0.89272	D	AEDGBI	0.855953	0.77312	D	0.264548452038356	0.54362	3.601987	0.332133515729618	0.57437	3.909442	0.862688314009017	0.25256	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.02	4.94	0.64645	8.185000	0.89651	9.290000	0.79784	-0.065000	0.16512	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.9337:0.0:0.0663:0.0	12.221	0.53745	233	0.90919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2324.98	40	chr17	62010836	.	A	G	2324.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.08;DP=854;ExcessHet=0.0000;FS=2.846;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.10;ReadPosRankSum=1.23;SOR=0.725	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1199	20	0	1	0
chr17	62612553	62612555	TTC	-	exonic	TLK2	.	nonframeshift deletion	TLK2:NM_001284363:exon20:c.2145_2147del:p.S717del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1875.94	34	chr17	62612552	.	GTTC	G	1875.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.956;DP=834;ExcessHet=0.0000;FS=9.108;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.56;MQRankSum=-1.813e+00;QD=15.63;ReadPosRankSum=2.10;SOR=1.470	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1303	20	0	1	0
chr17	62690725	62690725	C	T	exonic	MRC2	.	nonsynonymous SNV	MRC2:NM_006039:exon27:c.C3976T:p.R1326W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	1.0	D	0.926	D	0.032	N	0.983	D	1.935	M	2.13	T	-1.070	T	0.090	T	0.599	3.592	18.29	3.11	2.134	0.397	6.284	0.204	0.0125535380362	.	.	2.575e-05	0	0	0	0	1.543e-05	0	0.0001	1.94e-05	3	154602	rs182449556	5.617e-05	5.609e-05	5.18e-05	6.059e-05	0.0002	4.616e-05	4.242e-05	9.838e-05	7.874e-05	0	2.256e-05	0	0	0	0	5.579e-05	8.291e-05	0.0002	3.285e-05	3.283e-05	1.285e-05	5.381e-05	0.0002	1.261e-05	7.98e-06	1.171e-05	6.25e-06	2.412e-05	0	0	0	0	0	0	4.41e-05	0	0.0002	0.01	0.63226	D	0.023	0.64786	D	0.998	0.90584	D	0.88	0.66095	P	0.032208	0.25061	N	0.377312	0.982808	0.39936	D	1.07	0.27075	L	2.13	0.19588	T	-2.66	0.69950	D	0.33	0.50508	-1.0702	0.09370	T	0.090	0.34655	T	10	0.242055	0.41394	T	0.012554	0.31222	T	0.204	0.49076	.	.	0.292174397486	0.28832	.	.	0.405131685381	0.41401	0.437565952539	0.30245	T	0.230466	0.59654	T	-0.266327	0.12170	T	-0.383668	0.35292	T	0.330849346964283	0.26259	T	0.931607	0.74555	D	0.15653433	0.35320	0.10675124	0.25688	0.15653433	0.35319	0.10675124	0.25688	-7.168	0.55251	T	.	.	0.126	0.36614	B	.;.	.;.	4.109018	0.61334	24.3	0.99917325129933121	0.98518	0.63612	0.32144	D	AEFBCI	0.487707	0.52634	N	0.39592288243726	0.61201	4.318025	0.327674539758301	0.57172	3.882067	3.66130926514905E-4	0.06707	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.14	3.11	0.34883	0.478000	0.21922	1.473000	0.26767	0.524000	0.24156	0.982000	0.35529	0.982000	0.30508	0.978000	0.57271	0.3617:0.4828:0.1554:0.0	6.284	0.20229	552	0.72024	C-type lectin-like|C-type lectin-like|C-type lectin-like;C-type lectin-like|C-type lectin-like|C-type lectin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1400.98	43	chr17	62690725	.	C	T	1400.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.420e-01;DP=913;ExcessHet=0.0000;FS=1.584;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=-4.190e-01;SOR=0.550	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr17	62692371	62692371	C	T	exonic	MRC2	.	nonsynonymous SNV	MRC2:NM_006039:exon30:c.C4360T:p.R1454C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.998	D	0.000	D	1.000	D	1.7	L	3.98	T	-1.175	T	0.040	T	0.774	4.382	23.2	3.19	0.571	5.484	7.786	0.172	0.113263796496	.	.	6.652e-05	0	0	0	0	6.905e-05	0	0.0001	1.29e-05	2	154602	rs758989291	1.478e-05	1.71e-05	1.393e-05	1.564e-05	0.0002	9.5e-06	8.06e-06	3.567e-05	2.161e-05	0	0.0001	0	2.637e-05	0	0.0002	1.008e-05	0	4.916e-05	6.57e-06	6.566e-06	1.284e-05	0	6.541e-05	0	0	.	.	0	0	6.541e-05	0	0	0	0	0	0	0	0.063	0.45756	T	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000025	0.55875	D	0.115999	1	0.81001	D	1.83	0.48079	L	3.3	0.06368	T	-2.12	0.60665	N	0.612	0.62866	-1.1748	0.00452	T	0.040	0.17234	T	10	0.34058565	0.51124	T	0.113264	0.79171	D	0.172	0.43662	0.366	0.37361	0.274431252636	0.27063	.	.	1.41140609894	0.85459	0.713478088379	0.69096	T	0.158501	0.50154	T	-0.130982	0.31337	T	-0.200221	0.54626	T	0.302776988025153	0.25118	T	0.956104	0.83363	D	0.17030667	0.37598	0.11563971	0.27915	0.17030667	0.37598	0.11563971	0.27914	-5.798	0.44557	T	.	.	0.718	0.77707	P	.;.	.;.	5.483672	0.91405	32	0.99915771903199924	0.98379	0.93640	0.58773	D	AEFDBCI	0.651051	0.62494	D	0.47283735958974	0.65509	4.831538	0.422000036188911	0.62939	4.518022	0.976891907979437	0.29768	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.21	3.19	0.35720	5.584000	0.67185	4.842000	0.45294	0.511000	0.23309	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.2888:0.6368:0.0:0.0744	7.786	0.28255	552	0.72024	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1027.98	38	chr17	62692371	.	C	T	1027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=846;ExcessHet=0.0000;FS=1.734;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=0.994;SOR=0.760	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1307	20	0	1	0
chr17	63481680	63481680	G	A	exonic	ACE	.	nonsynonymous SNV	ACE:NM_001382701:exon5:c.G208A:p.G70R	Renal tubular dysgenesis, Autosomal recessive	.	0	1512	10	0	0	10	0.00329598	.	.	345306	Hemorrhage,_intracerebral,_susceptibility_to|Microvascular_complications_of_diabetes,_susceptibility_to,_3|Renal_tubular_dysgenesis_of_genetic_origin|Renal_tubular_dysgenesis|not_provided	MONDO:MONDO:0100533,MedGen:C3281105,OMIM:614519|MONDO:MONDO:0012963,MedGen:C2675470,OMIM:612624|MONDO:MONDO:0009970,MedGen:C5681536,OMIM:267430,Orphanet:97369|Human_Phenotype_Ontology:HP:0008660,MONDO:MONDO:0017609,MedGen:C0266313,Orphanet:3033|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.22	T	1.0	D	0.998	D	0.000	D	1.000	D	3.435	M	0.55	T	-0.207	T	0.279	T	0.676	3.645	18.53	4.33	2.231	6.263	17.028	0.318	.	0.0065	0.00379393	0.0078	0.0011	0.0033	0	0.0262	0.0105	0.0077	0.0015	0.0075355	1165	154602	rs56394458	0.0087	0.0087	0.0087	0.0086	0.0095	0.0085	0.0085	0.0093	0.0093	0.0015	0.0044	0.0008	2.519e-05	0.0235	0.0066	0.0095	0.0066	0.0019	0.0071	0.0071	0.0064	0.0078	0.0091	0.0068	0.0066	0.0085	0.0083	0.0018	0	0.0046	0.0012	0	0.0279	0.0034	0.0091	0.0057	0.0014	0.012	0.55530	D	0.004	0.76473	D	1.0	0.90584	D	0.998	0.88582	D	0.000002	0.62929	D	0.000000	1	0.81001	D	3.545	0.93219	H	0.55	0.54728	T	-3.27	0.65512	D	0.819	0.81459	-0.2070	0.77491	T	0.279	0.65119	T	10	0.016649961	0.00352	T	.	.	.	0.318	0.64008	0.394	0.41935	0.848307341727	0.84685	0.3805313184583944	0.37968	0.22178067715	0.24716	0.630038380623	0.57151	T	0.031829	0.43276	T	-0.216507	0.18473	T	-0.0701487	0.65616	T	0.0555810719895859	0.06454	T	0.927707	0.75038	D	0.43089223	0.62810	0.4152924	0.65647	0.49997067	0.67094	0.43169975	0.66779	-11.149	0.80469	D	0.6279207330342891	0.69699	0.194	0.43421	B	.;.	.;.	5.222411	0.87654	29.3	0.99832042966239665	0.91370	0.98718	0.85968	D	AEFDBI	0.892225	0.82895	D	0.54342816753885	0.69681	5.391903	0.517359654235633	0.69156	5.320651	0.999999951504153	0.74766	0.460665	0.09802	0	0.547309	0.14657	0	0.603688	0.36954	0	0.636168	0.56350	0	.	.	4.33	4.33	0.51083	6.578000	0.73920	8.592000	0.77691	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.931000	0.46843	0.0:0.0:1.0:0.0	17.028	0.86326	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1204.98	35	chr17	63481680	.	G	A	1204.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.053;DP=814;ExcessHet=0.0000;FS=0.732;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.81;ReadPosRankSum=-1.349e+00;SOR=0.613	GT:AD:DP:GQ:PL	0/1:50,52:102:99:1219,0,1186	20	0	1	0
chr17	63493576	63493576	T	C	exonic	ACE	.	nonsynonymous SNV	ACE:NM_001382702:exon8:c.T791C:p.I264T	Renal tubular dysgenesis, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	878085	Renal_tubular_dysgenesis|not_provided	Human_Phenotype_Ontology:HP:0008660,MONDO:MONDO:0017609,MedGen:C0266313,Orphanet:3033|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.999	D	0.999	D	0.000	D	1.000	D	3.705	H	0.9	T	-0.014	T	0.369	T	0.957	2.466	14.21	4.91	1.835	8.005	14.540	0.622	0.0583919575628	0.0012	0.00139776	0.0004	0.0029	0.0007	0.0001	0	1.5e-05	0.0011	0.0006	0.0004204	65	154602	rs4976	0.0002	0.0002	0.0002	0.0002	0.0032	0.0002	0.0002	0.0027	0.0025	0.0032	0.0004	3.826e-05	0.0009	1.872e-05	0.0009	0.0001	0.0004	0.0006	0.0012	0.0012	0.0013	0.0011	0.0037	0.0010	0.0010	0.0032	0.0030	0.0037	0	0.0010	0	0.0006	0	0	5.881e-05	0	0.0006	0.001	0.78490	D	0.002	0.83351	D	0.999	0.77913	D	0.988	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.685	0.94485	H	0.9	0.45248	T	-3.35	0.74742	D	0.869	0.86618	-0.0143	0.81957	T	0.369	0.72857	T	10	0.04877478	0.04375	T	0.058392	0.67303	D	0.622	0.85354	.	.	0.920136614771	0.91933	0.5378218431907178	0.53707	0.530389991159	0.50578	0.495788037777	0.38240	T	0.343915	0.71250	T	-0.0298869	0.47434	T	0.183773	0.82213	D	0.098841798284766	0.12229	T	0.986001	0.95258	D	0.91994774	0.93242	0.8276723	0.90034	0.9532661	0.96599	0.8856319	0.93958	-10.423	0.76403	D	0.6418762351831973	0.71272	0.375	0.63684	A	.;.;.;.	.;.;.;.	4.785230	0.77595	26.7	0.96480093863898186	0.29967	0.94026	0.59890	D	AEFDBCI	0.958460	0.97826	D	0.878069165961534	0.90643	10.499	0.777282027812489	0.88173	9.484075	0.999998139639061	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.636168	0.56350	0	.	.	4.91	4.91	0.63897	7.979000	0.87701	7.874000	0.72122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.865000	0.41091	0.0:0.0:0.0:1.0	14.540	0.67572	937	0.14592	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1135.98	33	chr17	63493576	.	T	C	1135.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.194e+00;DP=797;ExcessHet=0.0000;FS=1.597;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=-4.120e-01;SOR=0.527	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1254	20	0	1	0
chr17	63534168	63534168	C	T	exonic	KCNH6	.	nonsynonymous SNV	KCNH6:NM_001278919:exon5:c.C958T:p.R320C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.685	M	-4.79	D	1.094	D	0.958	D	0.937	1.064	9.346	3.13	0.882	1.856	12.898	0.910	0.588143917487	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1448074366	1.645e-05	1.642e-05	9.548e-06	2.342e-05	0.0002	1.113e-05	9.35e-06	1.583e-05	9.3e-06	0	0	0	0	0	0.0002	1.621e-05	1.662e-05	4.638e-05	6.621e-06	6.591e-06	0	1.357e-05	2.436e-05	0	0	.	.	2.436e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.22	0.89398	M	-4.79	0.98155	D	-7.68	0.95574	D	0.925	0.94550	1.094	0.99386	D	0.958	0.98657	D	10	0.9762363	0.97403	D	0.588144	0.96333	D	0.910	0.97587	.	.	0.864934792122	0.86362	0.93824878106377	0.93804	0.798839681032	0.66148	0.800071537495	0.81973	T	0.899612	0.98021	D	0.384724	0.89009	D	0.517507	0.94972	D	0.993633270263672	0.84513	D	0.970203	0.93576	D	0.8874661	0.90291	0.7230031	0.83642	0.8874661	0.90292	0.7230031	0.83643	-10.191	0.77100	D	.	.	0.561	0.67407	A	.;.;.;.;.	.;.;.;.;.	5.279218	0.88641	29.7	0.9153135955921603	0.20807	0.94755	0.62218	D	AEFGBI	0.658100	0.62949	D	0.40061459609916	0.61458	4.347	0.281607769128394	0.54466	3.611495	0.00478260196341978	0.10711	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	4.14	3.13	0.35090	2.007000	0.40503	5.890000	0.50749	0.460000	0.21577	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.164:0.836:0.0:0.0	12.898	0.57503	804	0.43891	.;.;.;Ion transport domain;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1655.98	38	chr17	63534168	.	C	T	1655.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.74;DP=956;ExcessHet=0.0000;FS=9.769;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=-1.282e+00;SOR=0.266	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	20	0	1	0
chr17	63535774	63535774	T	G	exonic	KCNH6	.	nonsynonymous SNV	KCNH6:NM_001278919:exon6:c.T1207G:p.L403V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.99	D	0.000	D	1.000	D	1.865	L	-4.95	D	1.093	D	0.939	D	0.703	1.132	9.612	3.39	1.020	3.959	9.026	0.870	0.168911186946	.	.	2.477e-05	0	0	0	0	4.511e-05	0	0	2.59e-05	4	154602	rs555700503	2.257e-05	2.257e-05	1.906e-05	2.613e-05	2.878e-05	1.61e-05	1.416e-05	2.082e-05	1.782e-05	0	2.236e-05	0	0	0	0	2.878e-05	0	0	3.284e-05	3.283e-05	3.852e-05	2.688e-05	7.348e-05	1.26e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.348e-05	0	0	0.001	0.91255	D	0.024	0.56640	D	0.999	0.77913	D	0.99	0.78936	D	0.000003	0.62929	D	0.000000	0.912948	0.48635	D	2.09	0.57893	M	-4.95	0.98428	D	-2.91	0.61284	D	0.7	0.70527	1.093	0.99374	D	0.939	0.97996	D	10	0.76275784	0.76472	D	0.168911	0.84688	D	0.870	0.96096	.	.	0.79706668669	0.79517	0.76571216505367	0.76520	0.688068891837	0.60415	0.868728458881	0.92386	D	0.800496	0.94908	D	0.18885	0.72858	D	0.213789	0.83859	D	0.431077328439979	0.30101	T	0.991201	0.97285	D	0.68783927	0.77394	0.6196035	0.77844	0.68783927	0.77396	0.6196035	0.77845	-11.427	0.85350	D	.	.	0.620	0.80562	P	.;.;.;.;.	.;.;.;.;.	3.484059	0.48668	22.7	0.85468584359486577	0.15912	0.89273	0.49638	D	AEFDGBI	0.788287	0.71782	D	0.320258816889986	0.57188	3.885372	0.228537709169651	0.51438	3.326202	0.999887425594265	0.44867	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.36	3.39	0.37919	4.167000	0.57999	0.885000	0.22426	-0.356000	0.05535	1.000000	0.71638	0.998000	0.33993	0.978000	0.57271	0.0:0.8171:0.0:0.1829	9.026	0.35392	816	0.41767	.;.;.;Ion transport domain;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1548.98	33	chr17	63535774	.	T	G	1548.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.697e+00;DP=866;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.93;ReadPosRankSum=0.771;SOR=0.645	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1219	20	0	1	0
chr17	63545170	63545170	C	A	exonic	KCNH6	.	nonsynonymous SNV	KCNH6:NM_001278919:exon12:c.C2489A:p.A830D	.	.	419	1087	16	0	0	16	0.00730594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.381	B	0.143	B	0.013	N	0.991	N	1.39	L	-5.94	D	0.734	D	0.915	D	0.251	1.261	10.11	2.36	0.389	1.657	7.214	0.367	0.28902848351	.	0.00159744	0.0014	0.0002	0.0010	0	0	0.0004	0.0022	0.0080	0.0011837	183	154602	rs146648647	0.0008	0.0008	0.0005	0.0011	0.0093	0.0008	0.0008	0.0087	0.0085	2.987e-05	0.0006	0	2.519e-05	1.885e-05	0.0045	0.0002	0.0010	0.0093	0.0005	0.0005	0.0005	0.0005	0.0072	0.0004	0.0004	0.0054	0.0047	7.215e-05	0	0.0004	0	0	0	0	0.0004	0.0009	0.0072	0.01	0.56456	D	0.175	0.29945	T	0.277	0.34388	B	0.143	0.33763	B	0.013364	0.28863	N	0.328689	0.999433	0.21230	N	1.355	0.33814	L	-5.94	0.99456	D	-1.05	0.27463	N	0.257	0.29313	0.734	0.93600	D	0.915	0.97170	D	10	0.007865697	0.00179	T	0.289028	0.90498	D	0.367	0.68670	.	.	0.643961431749	0.64101	0.39785121735806944	0.39700	0.321312189581	0.34332	0.299728453159	0.10360	T	0.10268	0.41063	T	-0.245589	0.14645	T	-0.119434	0.61850	T	0.0157242416570985	0.00364	T	0.737426	0.35417	T	0.12717558	0.29768	0.13672428	0.32699	0.12717558	0.29768	0.13672428	0.32698	-4.885	0.40081	T	.	.	0.114	0.22680	B	.;.;.;.	.;.;.;.	1.081331	0.14642	11.20	0.90174368681605954	0.19450	0.91553	0.53771	D	AEFBI	0.355748	0.44737	N	-0.713888070430966	0.15630	0.7894164	-0.707119628019298	0.16783	0.8894742	0.808120538033174	0.24307	0.57788	0.32782	0	0.573888	0.26702	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	5.55	2.36	0.28258	1.859000	0.39058	0.512000	0.19089	-0.182000	0.10109	0.721000	0.28831	0.048000	0.21764	0.009000	0.08673	0.0:0.7008:0.1389:0.1602	7.214	0.25127	875	0.30485	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1210.11	35	chr17	63545170	.	C	A	1210.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.207;DP=784;ExcessHet=0.1072;FS=6.023;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=0.496;SOR=0.896	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1071	19	0	2	0
chr17	63699057	63699057	C	T	exonic	LIMD2	.	nonsynonymous SNV	LIMD2:NM_030576:exon3:c.G55A:p.G19S,	.	.	404	1109	9	0	0	9	0.00404131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.0	B	0.171	N	1.000	D	-0.695	N	-0.93	T	-0.945	T	0.101	T	0.088	-1.284	0.041	-4.88	-1.171	-0.162	11.562	0.136	0.018259786244	0.0010	0.000199681	0.0013	0.0006	0.0012	0	0.0002	0.0019	0.0016	0.0006	0.0010867	168	154602	rs199625729	0.0020	0.0020	0.0020	0.0021	0.0025	0.0020	0.0020	0.0024	0.0024	0.0003	0.0007	0	0	9.85e-05	0.0017	0.0025	0.0014	0.0007	0.0012	0.0012	0.0014	0.0011	0.0023	0.0011	0.0010	0.0020	0.0019	0.0003	0	0.0006	0.0003	0	9.459e-05	0.0070	0.0023	0.0005	0.0004	1.0	0.00964	T	1.0	0.10245	T	0.001	0.07471	B	0.0	0.01387	B	0.171426	0.17363	N	0.543405	0.999837	0.49637	D	-0.28	0.03718	N	-0.93	0.75215	T	1.68	0.00591	N	0.117	0.19995	-0.9453	0.41764	T	0.101	0.37392	T	10	0.0048351884	0.00103	T	0.01826	0.40264	T	0.136	0.36778	.	.	0.402471007487	0.39861	0.2260512552945152	0.22520	0.498502261291	0.48324	0.520569205284	0.41707	T	0.006384	0.05814	T	-0.519586	0.00442	T	-0.525602	0.19728	T	0.00236466595125569	0.00024	T	0.519848	0.16911	T	0.024026211	0.01196	0.039776552	0.04147	0.024026211	0.01195	0.039776552	0.04147	-3.156	0.11951	T	.	.	0.071	0.10352	B	.;.;.;.;.	.;.;.;.;.	0.095564	0.04982	1.543	0.87350829412901176	0.17165	0.00882	0.03481	N	AEFDGBHCI	0.122202	0.23724	N	-1.68890620482619	0.00882	0.03816228	-1.67237802133155	0.01265	0.05700937	0.999999984683324	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.594344	0.31042	0	0.621717	0.48901	0	.	.	4.33	-4.88	0.02884	-0.422000	0.07110	-0.206000	0.10898	-0.278000	0.06506	0.000000	0.06391	0.028000	0.21151	0.800000	0.37734	0.0:0.2608:0.0:0.7392	11.562	0.50033	890	0.26919	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	646.98	21	chr17	63699057	.	C	T	646.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.395;DP=555;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.31;ReadPosRankSum=1.35;SOR=0.527	GT:AD:DP:GQ:PL	0/0:22,0:22:60:0,60,900	20	0	1	0
chr17	63761318	63761318	G	T	exonic	CCDC47	.	nonsynonymous SNV	CCDC47:NM_020198:exon5:c.C581A:p.T194K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	T	0.999	D	0.997	D	0.000	D	1.000	D	1.59	L	.	.	-0.646	T	0.342	T	0.751	3.193	16.69	5.4	2.680	9.662	18.512	0.178	0.00588739967056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs774830716	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	0.13349	T	0.673	0.06245	T	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.935	0.51832	L	.	.	.	-0.79	0.21860	N	0.754	0.75283	-0.6464	0.62870	T	0.342	0.70754	T	9	0.5118808	0.62144	D	0.005887	0.15340	T	0.178	0.44724	0.369	0.37850	0.80742246399	0.80562	0.6584564080520561	0.65782	0.98513362882	0.73873	0.867678821087	0.92235	D	0.111254	0.42659	T	0.205451	0.74401	D	0.0573403	0.74068	D	0.742978394031525	0.42898	D	0.927407	0.73262	D	0.22297895	0.44909	0.30503103	0.56530	0.22297895	0.44909	0.30503103	0.56529	-4.358	0.30705	T	.	.	0.692	0.74295	P	.;.;.	.;.;.	4.336560	0.66495	25.0	0.93595616136241155	0.23449	0.99454	0.96231	D	AEFDBI	0.913694	0.87603	D	0.386757595582084	0.60705	4.262293	0.494644444265248	0.67634	5.110432	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	9.765000	0.98142	11.707000	0.94592	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	18.512	0.90870	897	0.25382	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1171.98	37	chr17	63761318	.	G	T	1171.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.020e-01;DP=862;ExcessHet=0.0000;FS=1.594;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=1.61;SOR=0.873	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr17	63817805	63817805	A	G	exonic	DDX42	.	nonsynonymous SNV	DDX42:NM_203499:exon18:c.A2224G:p.T742A	.	.	433	1083	5	1	0	7	0.00322135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.034	B	0.023	B	0.614	N	1.000	D	0.55	N	3.34	T	-1.002	T	0.011	T	0.265	2.470	14.22	4.08	0.950	4.376	10.653	0.088	0.00525768882391	0.0056	0.00199681	0.0037	0.0013	0.0008	0	0.0008	0.0063	0.0033	0.0001	0.0039844	616	154602	rs112345375	0.0066	0.0066	0.0068	0.0063	0.0078	0.0065	0.0064	0.0077	0.0076	0.0010	0.0020	0.0138	0	0.0008	0.0059	0.0078	0.0056	0.0002	0.0042	0.0042	0.0046	0.0039	0.0069	0.0040	0.0039	0.0064	0.0062	0.0016	0.0044	0.0029	0.0130	0	0.0002	0.0034	0.0069	0.0047	0.0004	0.12	0.27904	T	0.236	0.24694	T	0.034	0.20480	B	0.023	0.19966	B	0.614084	0.05718	N	1.193970	0.99963	0.48481	D	0.805	0.20218	L	3.34	0.06063	T	-0.14	0.09135	N	0.106	0.28965	-1.0015	0.29488	T	0.011	0.04042	T	10	0.0053133667	0.00116	T	0.005258	0.13433	T	0.088	0.25558	.	.	0.434676477133	0.43086	0.3568591443235534	0.35599	0.232246749357	0.25770	0.364786446095	0.20080	T	0.020897	0.16371	T	-0.526497	0.00403	T	-0.521091	0.20184	T	0.0204034242757217	0.00740	T	0.69713	0.32612	T	0.04619807	0.07691	0.058380798	0.10776	0.04619807	0.07691	0.058380798	0.10776	-3.006	0.10245	T	.	.	0.070	0.04477	B	.;.;.;.;.	.;.;.;.;.	2.725894	0.35667	19.96	0.99059119034031617	0.51436	0.97535	0.75383	D	AEFDGBCI	0.596049	0.59037	D	-0.337681526235862	0.27727	1.523622	-0.141534712431691	0.33735	1.932896	0.999999989322734	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.17	4.08	0.46880	4.556000	0.60483	4.075000	0.41695	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.8564:0.0:0.0:0.1436	10.653	0.44852	856	0.34373	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1623.98	34	chr17	63817805	.	A	G	1623.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.87;DP=808;ExcessHet=0.0000;FS=2.441;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.88;ReadPosRankSum=-1.785e+00;SOR=1.006	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1119	20	0	1	0
chr17	63818263	63818274	CAAGATGGAGCC	-	exonic	DDX42	.	nonframeshift deletion	DDX42:NM_203499:exon18:c.2682_2693del:p.M900_K903del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.671e-05	0	0	0	0	1.524e-05	0	6.087e-05	3.84e-05	1	26028	rs758130833	1.71e-05	1.71e-05	1.225e-05	2.2e-05	2.987e-05	1.174e-05	9.92e-06	1.213e-05	1.03e-05	2.987e-05	0	0	0	0	0	1.888e-05	3.311e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2642.94	34	chr17	63818262	.	GCAAGATGGAGCC	G	2642.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.721;DP=840;ExcessHet=0.0000;FS=1.353;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.01;ReadPosRankSum=0.399;SOR=0.842	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1119	20	0	1	0
chr17	63821099	63821099	C	T	exonic	FTSJ3	.	nonsynonymous SNV	FTSJ3:NM_017647:exon17:c.G1903A:p.G635S,	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.001	B	0.018	B	0.054	N	1.000	N	0	N	1.58	T	-0.997	T	0.026	T	0.116	1.825	12.06	-0.723	-0.226	-0.134	4.568	0.025	0.0117991507534	0.0015	0.000599042	0.0012	9.617e-05	0.0011	0	0	0.0018	0.0022	6.056e-05	0.0011902	184	154602	rs141577537	0.0016	0.0016	0.0016	0.0015	0.0023	0.0015	0.0015	0.0018	0.0018	0.0002	0.0016	0	2.519e-05	0.0002	0.0023	0.0019	0.0014	0.0002	0.0011	0.0011	0.0013	0.0008	0.0025	0.0009	0.0009	0.0019	0.0016	0.0003	0	0.0025	0	0	0	0.0102	0.0015	0.0009	0.0004	0.112	0.28900	T	0.223	0.25670	T	0.001	0.07471	B	0.018	0.18489	B	0.053740	0.22783	N	0.451424	1	0.08975	N	-0.69	0.01958	N	1.58	0.29085	T	-0.9	0.24244	N	0.133	0.12913	-0.9965	0.30892	T	0.026	0.11043	T	10	0.0062654614	0.00141	T	0.011799	0.29782	T	0.025	0.05312	.	.	0.0954503805726	0.09146	0.18640597565947625	0.18558	0.121329938237	0.13659	0.279026985168	0.07357	T	0.004547	0.03958	T	-0.634101	0.00090	T	-0.68761	0.06529	T	0.0098035085188515	0.00129	T	0.662834	0.27173	T	0.05132606	0.09410	0.036287997	0.03045	0.05132606	0.09410	0.036287997	0.03044	-3.207	0.12567	T	.	.	0.091	0.13315	B	.	.	0.540778	0.09093	5.877	0.80731038771122732	0.13342	0.26645	0.23052	N	AEFBHCI	0.096506	0.19480	N	-1.24828473503414	0.04323	0.1948577	-1.24639359731755	0.05185	0.2464233	0.999987612497294	0.51787	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.86	-0.723	0.10617	-0.430000	0.07043	-1.739000	0.04815	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.4971:0.1527:0.3502	4.568	0.11590	856	0.34373	Ribosomal RNA methyltransferase, Spb1, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1718.98	35	chr17	63821099	.	C	T	1718.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.140e-01;DP=872;ExcessHet=0.0000;FS=0.674;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.32;ReadPosRankSum=-4.210e-01;SOR=0.774	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,117,1411	20	0	1	0
chr17	63821418	63821418	C	T	exonic	FTSJ3	.	nonsynonymous SNV	FTSJ3:NM_017647:exon16:c.G1822A:p.E608K,	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.83	T	0.017	B	0.042	B	0.753	N	1.000	N	0	N	1.51	T	-1.021	T	0.037	T	0.171	0.031	4.173	2.94	1.333	0.104	8.068	0.047	0.00573805166869	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1332018072	9.577e-06	9.577e-06	1.225e-05	6.876e-06	0.0003	5.56e-06	4.35e-06	6.131e-05	2.536e-05	0	0	0	0	0	0.0003	8.993e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.637	0.05046	T	0.737	0.05036	T	0.017	0.17573	B	0.042	0.24114	B	0.752812	0.06494	N	1.115140	1	0.08975	N	0	0.06538	N	1.51	0.30937	T	0.02	0.06739	N	0.103	0.08646	-1.0206	0.23519	T	0.037	0.16029	T	10	0.046037227	0.03745	T	0.005738	0.14892	T	0.047	0.12962	0.248	0.18447	0.0884992946249	0.08302	0.13326623901729018	0.13250	0.134690004748	0.15179	0.239518612623	0.02747	T	8.38E-4	0.00412	T	-0.283232	0.10329	T	-0.629133	0.10480	T	0.0319145800861741	0.02292	T	0.423058	0.11286	T	0.03751326	0.04824	0.036395274	0.03078	0.03751326	0.04824	0.036395274	0.03077	-4.831	0.34951	T	.	.	0.068	0.02829	B	.	.	0.911984	0.12864	9.376	0.45366371385554205	0.03555	0.22063	0.21619	N	AEFDBCI	0.056585	0.10471	N	-1.18324381752551	0.05253	0.2390387	-1.12150697800795	0.07290	0.3540449	0.999999456764568	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.97	2.94	0.33188	0.073000	0.14504	-0.027000	0.12846	-0.803000	0.03144	0.000000	0.06391	0.000000	0.08366	0.058000	0.15825	0.0:0.81:0.0:0.19	8.068	0.29835	856	0.34373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4253.98	35	chr17	63821418	.	C	T	4253.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.810e-01;DP=1150;ExcessHet=0.0000;FS=0.842;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=-6.450e-01;SOR=0.633	GT:AD:DP:GQ:PL	0/1:158,168:326:99:4268,0,3953	20	0	1	0
chr17	63825574	63825574	T	C	exonic	FTSJ3	.	nonsynonymous SNV	FTSJ3:NM_017647:exon6:c.A362G:p.N121S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.645	M	1.49	T	-0.650	T	0.206	T	0.292	1.277	10.17	4.89	2.043	7.226	12.499	0.506	0.0697488919075	.	.	8.242e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs775548004	4.106e-06	4.789e-06	2.723e-06	5.502e-06	2.988e-05	1.48e-06	9.7e-07	7.2e-07	2e-07	2.988e-05	0	0	0	0	0	2.699e-06	3.313e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999981	0.54805	D	3.405	0.91733	M	1.49	0.31470	T	-4.85	0.81107	D	0.869	0.86618	-0.6501	0.62710	T	0.206	0.56403	T	10	0.73690754	0.74684	D	0.069749	0.70816	D	0.506	0.78724	.	.	0.430579932962	0.42676	0.6818300261597325	0.68122	0.479578996865	0.46990	0.760000526905	0.75928	T	0.133901	0.46484	T	-0.111759	0.34478	T	-0.301457	0.44571	T	0.98145204782486	0.73921	D	0.997507	0.98978	D	0.90007603	0.91389	0.77782136	0.86895	0.90007603	0.91390	0.77782136	0.86896	-8.925	0.67213	D	.	.	0.302	0.53119	B	.;.	.;.	4.728450	0.76132	26.5	0.8282138889682169	0.14392	0.96825	0.71142	D	AEFBCI	0.855873	0.77303	D	0.692389146790395	0.79133	7.013927	0.604364046072604	0.75257	6.278572	0.999999999991166	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	4.89	4.89	0.63387	7.214000	0.77458	7.947000	0.75742	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.841000	0.39698	0.0:0.0:0.0:1.0	12.499	0.55288	856	0.34373	Ribosomal RNA methyltransferase FtsJ domain;Ribosomal RNA methyltransferase FtsJ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3309.98	33	chr17	63825574	.	T	C	3309.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=1082;ExcessHet=0.0000;FS=4.518;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.96;ReadPosRankSum=0.229;SOR=0.945	GT:AD:DP:GQ:PL	0/1:166,136:302:99:3324,0,3993	20	0	1	0
chr17	63836957	63836957	T	A	exonic	SMARCD2	.	nonsynonymous SNV	SMARCD2:NM_001098426:exon4:c.A532T:p.M178L	.	.	.	.	.	.	.	.	.	.	.	1158077	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.011	B	0.016	B	0.000	D	1.000	D	-0.365	N	1.36	T	-1.058	T	0.025	T	0.279	-0.299	2.572	4.41	1.084	2.118	10.889	0.077	0.0138165433951	.	0.00119808	0.0008	0	8.639e-05	0.0095	0	0	0	0.0005	0.0006856	106	154602	rs184746026	0.0003	0.0003	0.0002	0.0003	0.0066	0.0002	0.0002	0.0060	0.0057	0	4.472e-05	0.0002	0.0066	0	0	2.069e-05	0.0005	0.0006	0.0003	0.0003	0.0002	0.0004	0.0079	0.0002	0.0002	0.0060	0.0053	0	0	6.537e-05	0	0.0079	0	0	1.47e-05	0	0.0006	1.0	0.00964	T	1.0	0.01155	T	0.011	0.15914	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	-2.21	0.00121	N	1.36	0.34452	T	0.92	0.01573	N	0.397	0.43803	-1.0578	0.12311	T	0.025	0.10598	T	10	0.0045084357	0.00093	T	0.013817	0.33509	T	0.077	0.22490	0.397	0.42426	0.123314135267	0.11883	0.5252111698623224	0.52445	1.18713337383	0.80177	0.791351020336	0.80648	T	0.005081	0.17006	T	-0.513866	0.00477	T	-0.503803	0.21953	T	0.0292352642302849	0.01873	T	0.929607	0.73996	D	0.13963369	0.32247	0.13927022	0.33235	0.13963369	0.32247	0.13927022	0.33234	-3.607	0.25614	T	.	.	0.211	0.43855	B	.;.;.;.	.;.;.;.	3.205004	0.43602	21.8	0.6728041285549069	0.08308	0.86092	0.45309	D	AEFBCI	0.409989	0.48105	N	-0.852242650811577	0.11995	0.5820397	-0.634296709728132	0.18615	0.995158	0.999986136453351	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.49	4.41	0.52588	1.388000	0.34048	7.943000	0.75571	0.665000	0.62972	0.984000	0.35821	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.158:0.842	10.889	0.46196	856	0.34373	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1266.98	34	chr17	63836957	.	T	A	1266.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=779;ExcessHet=0.0000;FS=0.811;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.62;ReadPosRankSum=-6.350e-01;SOR=0.871	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1337	20	0	1	0
chr17	63842470	63842470	C	A	exonic	SMARCD2	.	nonsynonymous SNV	SMARCD2:NM_001098426:exon1:c.G205T:p.A69S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.001	B	0.0	B	0.286	N	1.000	D	0.49	N	0.95	T	-1.095	T	0.060	T	0.293	3.091	16.32	3.36	1.171	0.889	10.306	0.044	0.256284214272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.893e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.17584	T	0.474	0.12107	T	0.001	0.07471	B	0.0	0.01387	B	0.285958	0.14857	N	0.641330	0.845727	0.35139	D	0.345	0.11182	N	0.95	0.43279	T	0.04	0.06488	N	0.185	0.20129	-1.0947	0.04795	T	0.060	0.25237	T	10	0.09975335	0.26298	T	0.256284	0.89324	D	0.044	0.11924	0.162	0.06618	0.273495378476	0.26946	0.037918791273339525	0.03737	0.560178183246	0.52553	0.855686306953	0.90469	D	0.005031	0.37753	T	-0.188739	0.22443	T	-0.508887	0.21430	T	0.130136609077454	0.15394	T	0.429857	0.22547	T	0.15958463	0.35840	0.18164176	0.41040	0.15958463	0.35840	0.18164176	0.41040	-4.983	0.36655	T	.	.	0.063	0.02609	B	.;.;.	.;.;.	2.706754	0.35366	19.88	0.96844842672158193	0.31320	0.24835	0.22516	N	AEFDBHCIJ	0.117698	0.23045	N	-0.535740300288746	0.20933	1.107208	-0.3738662936547	0.25779	1.419767	0.999999987741251	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.581474	0.35302	0	.	.	4.36	3.36	0.37579	0.192000	0.16902	2.970000	0.35794	0.398000	0.20534	0.972000	0.34453	0.996000	0.32793	0.964000	0.52637	0.0:0.7993:0.2007:0.0	10.306	0.42862	857	0.34089	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.05556	31.47	5	chr17	63842470	.	C	A	31.47	.	AC=2;AF=0.056;AN=36;DP=115;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.4687;MLEAC=1;MLEAF=0.028;MQ=60.00;QD=15.73;SOR=0.693	GT:AD:DP:GQ:PL	0/0:4,0:4:12:0,12,75	17	1	0	3
chr17	63880507	63880507	A	G	exonic	GH2	.	nonsynonymous SNV	GH2:NM_022557:exon4:c.T721C:p.W241R	.	.	0	1506	15	1	0	17	0.00561241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.003	B	.	.	1.000	N	.	.	-2.46	D	-0.778	T	0.326	T	0.2	-0.523	1.613	-1.33	-0.491	-1.816	8.059	0.255	0.0264370591706	0.0015	0.00119808	0.0032	0	0.0005	0	0.0095	0.0030	0.0044	0.0070	0.0028913	447	154602	rs61764020	0.0023	0.0023	0.0020	0.0026	0.0071	0.0022	0.0022	0.0067	0.0065	0.0002	0.0002	0.0016	0	0.0122	0.0043	0.0017	0.0019	0.0071	0.0027	0.0027	0.0021	0.0033	0.0044	0.0025	0.0024	0.0029	0.0026	0.0002	0	0.0006	0.0006	0	0.0145	0.0068	0.0031	0.0028	0.0044	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.46	0.88924	D	-0.18	0.09796	N	0.144	0.14480	-0.7783	0.56398	T	0.326	0.69470	T	8	0.004633844	0.00097	T	0.026437	0.49346	D	0.255	0.56562	0.417	0.45709	0.337868961071	0.33390	0.232146659423837	0.23129	0.102394651726	0.11590	0.369934737682	0.20822	T	.	.	.	-0.480942	0.00730	T	-0.460726	0.26521	T	0.00783980622075071	0.00092	T	0.155684	0.01361	T	.	.	.	.	.	.	.	.	-2.153	0.03818	T	.	.	0.159	0.35140	B	.	.	-0.867574	0.00981	0.039	0.69038374815443504	0.08845	0.02320	0.06650	N	AEFDBI	0.019037	0.00627	N	-1.06781481658037	0.07243	0.3358606	-1.07281189044129	0.08238	0.4041939	1.20928768109436E-4	0.05269	0.653281	0.48532	0	0.59043	0.45803	0	0.675528	0.61593	0	0.542086	0.14980	0	.	.	2.74	-1.33	0.08693	-2.120000	0.01410	-8.864000	0.00902	-1.374000	0.01167	0.002000	0.15269	0.000000	0.08366	0.015000	0.10482	0.5473:0.0:0.4527:0.0	8.059	0.29784	846	0.36215	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2496.98	36	chr17	63880507	.	A	G	2496.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.436e+00;DP=928;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.69;MQRankSum=-1.777e+00;QD=12.06;ReadPosRankSum=0.430;SOR=0.686	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1253	20	0	1	0
chr17	63880586	63880586	C	T	exonic	GH2	.	stopgain	GH2:NM_022557:exon4:c.G642A:p.W214X,	.	.	1	1497	23	1	0	25	0.00828089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	N	1.000	D	.	.	.	.	.	.	.	.	.	1.109	9.524	0.194	-0.056	-0.043	7.117	.	.	0.0018	0.000798722	0.0026	0.0004	0.0021	0	0.0024	0.0033	0.0033	0.0030	0.0023803	368	154602	rs150668018	0.0025	0.0025	0.0024	0.0026	0.0102	0.0024	0.0024	0.0081	0.0074	0.0004	0.0028	0.0014	2.519e-05	0.0030	0.0102	0.0025	0.0027	0.0032	0.0021	0.0021	0.0022	0.0021	0.0031	0.0019	0.0019	0.0028	0.0027	0.0004	0	0.0030	0.0012	0	0.0017	0.0170	0.0031	0.0038	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.00162	N	1929.950000	0.999975	0.53665	D	.	.	.	.	.	.	.	.	.	0.102	0.08506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.187871	0.22573	T	-0.0447461	0.67381	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	0.124428	0.05214	1.722	0.44111833942599404	0.03368	0.02410	0.06819	N	AEFDBI	0.021955	0.01039	N	-0.4385393961644	0.24131	1.300767	-0.830537710644818	0.13755	0.7153523	9.36666290586609E-5	0.04910	0.559995	0.30671	0	0.59043	0.45803	0	0.527494	0.11647	0	0.542086	0.14980	0	.	.	2.34	0.194	0.14424	-0.085000	0.11215	-1.672000	0.04943	-0.662000	0.04349	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.8261:0.0:0.1739	7.117	0.24602	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1499.98	36	chr17	63880586	.	C	T	1499.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.97;DP=835;ExcessHet=0.0000;FS=5.072;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.92;MQRankSum=-9.800e-01;QD=15.00;ReadPosRankSum=0.659;SOR=1.277	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1253	20	0	1	0
chr17	63909824	63909824	C	T	exonic	CSHL1	.	nonsynonymous SNV	CSHL1:NM_001318:exon4:c.G274A:p.A92T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.034	B	0.014	B	0.012	N	0.998	N	0.86	L	-2.45	D	-0.698	T	0.361	T	0.318	-0.526	1.602	0.211	-0.480	0.522	8.462	0.224	0.0529039886261	0.0006	0.000798722	0.0002	0.0017	8.637e-05	0	0	4.495e-05	0	0.0001	0.000207	32	154602	rs139297172	6.089e-05	6.088e-05	7.352e-05	4.813e-05	0.0015	5.028e-05	4.672e-05	0.0011	0.0010	0.0015	0.0001	0	0	0	0.0002	2.159e-05	3.312e-05	8.116e-05	0.0005	0.0005	0.0004	0.0005	0.0016	0.0004	0.0003	0.0013	0.0011	0.0016	0	6.535e-05	0	0	0	0	5.88e-05	0	0	0.184	0.22660	T	0.333	0.20486	T	0.034	0.20480	B	0.014	0.16862	B	0.011958	0.29343	N	0.322809	0.999999	0.22124	N	0.575	0.15311	N	-2.45	0.88847	D	-1.62	0.38924	N	0.094	0.30004	-0.6983	0.60519	T	0.361	0.72284	T	10	0.03882116	0.02328	T	0.052904	0.65257	D	0.224	0.52174	.	.	0.428516003163	0.42472	0.25157718969156545	0.25071	0.0235759496406	0.02391	0.281430840492	0.07693	T	0.150049	0.48933	T	-0.340743	0.05337	T	-0.286857	0.46098	T	0.00572369176372019	0.00062	T	0.761424	0.47570	T	0.052056704	0.09652	0.06453542	0.12947	0.052056704	0.09651	0.06453542	0.12947	-3.047	0.26708	T	.	.	0.074	0.06387	B	.;.;.;.;.	.;.;.;.;.	1.070291	0.14528	11.09	0.77844396398394222	0.12046	0.04923	0.10678	N	AEFGBI	0.072213	0.14403	N	-1.57486253866485	0.01395	0.06080555	-1.59425605803026	0.01690	0.07677186	5.6795432539855E-5	0.04171	0.569682	0.32691	0	0.563428	0.19063	0	0.657636	0.52715	0	0.530356	0.10902	0	.	.	3.6	0.211	0.14512	0.650000	0.24544	-0.094000	0.12022	-0.606000	0.04599	0.276000	0.25103	0.000000	0.08366	0.002000	0.04165	0.2603:0.6546:0.0:0.0851	8.462	0.32093	873	0.30802	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2463.98	95	chr17	63909824	.	C	T	2463.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.97;DP=1979;ExcessHet=0.0000;FS=0.496;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.62;MQRankSum=-4.000e-01;QD=11.10;ReadPosRankSum=-7.410e-01;SOR=0.633	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1241	20	0	1	0
chr17	63911190	63911190	C	T	exonic	CSHL1	.	nonsynonymous SNV	CSHL1:NM_001321067:exon1:c.G7A:p.A3T	.	.	0	1512	7	0	3	10	0.00230947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.112	B	0.087	B	0.089	N	1.000	D	1.66	L	-1.86	D	-0.571	T	0.545	D	0.229	0.099	4.534	-0.308	-0.007	-0.696	5.611	0.254	.	.	0.00139776	0.0012	0.0003	0.0003	0.0116	0.0002	0.0003	0	0.0009	0.0010479	162	154602	rs61762504	0.0004	0.0005	0.0003	0.0004	0.0086	0.0003	0.0003	0.0079	0.0076	2.989e-05	4.473e-05	0.0002	0.0086	0	0.0007	4.768e-05	0.0006	0.0008	0.0004	0.0004	0.0003	0.0005	0.0096	0.0003	0.0003	0.0075	0.0067	0	0	6.533e-05	0	0.0096	0	0	5.88e-05	0	0.0006	0.001	0.78490	D	0.004	0.76473	D	0.112	0.26290	B	0.087	0.29615	B	0.088871	0.02433	N	2.152470	1	0.81001	D	1.59	0.40313	L	-1.66	0.87512	D	-0.05	0.30964	N	0.198	0.21839	-0.5708	0.65982	T	0.545	0.83279	D	10	0.0055052936	0.00181	T	.	.	.	0.254	0.56428	0.318	0.29581	0.728201419959	0.72579	0.23812298541815458	0.23726	0.02383035318	0.02414	0.404264748096	0.25661	T	0.004638	0.04050	T	-0.37026	0.03581	T	-0.295235	0.45225	T	0.025484947010334	0.01336	T	0.272073	0.33571	T	0.0519955	0.09632	0.086983435	0.20190	0.0519955	0.09631	0.086983435	0.20189	-3.026	0.35993	T	.	.	0.134	0.33550	B	.;.;.;.	.;.;.;.	0.707488	0.10766	7.450	0.87487889185112522	0.17263	0.43020	0.27006	N	AEFBCI	0.071005	0.14116	N	-0.783502255459212	0.13739	0.6790683	-0.788718422164984	0.14772	0.7735844	6.33795859740278E-4	0.07505	0.59774	0.34471	0	0.615948	0.52940	0	0.574621	0.27300	0	0.63947	0.58350	0	.	.	2.95	-0.308	0.12139	-0.727000	0.05034	-0.443000	0.09147	0.327000	0.19478	0.890000	0.31197	0.069000	0.22184	0.009000	0.08673	0.0:0.6035:0.0:0.3965	5.611	0.16684	871	0.31377	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1749.98	36	chr17	63911190	.	C	T	1749.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.317e+00;DP=893;ExcessHet=0.0000;FS=0.686;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.46;ReadPosRankSum=0.087;SOR=0.599	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1369	20	0	1	0
chr17	63941038	63941038	C	G	exonic	SCN4A	.	nonsynonymous SNV	SCN4A:NM_000334:exon24:c.G5244C:p.K1748N,	Hyperkalemic periodic paralysis, type 2, Autosomal dominant;Hypokalemic periodic paralysis, type 2, Autosomal dominant;Myasthenic syndrome, congenital, 16, Autosomal recessive;Myotonia congenita, atypical, acetazolamide-responsive, Autosomal dominant;Paramyotonia congenita, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.918	D	0.001	N	0.981	D	3.07	M	-4.04	D	1.043	D	0.927	D	0.189	3.234	16.84	3.89	2.180	0.319	9.244	0.580	0.303557141155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.468e-05	0.0004	3.138e-05	1.791e-05	5.983e-05	1.807e-05	1.604e-05	2.122e-05	1.866e-05	5.983e-05	0	0	2.52e-05	0	0	2.975e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.008	0.67890	D	0.996	0.68779	D	0.918	0.65394	D	0.001323	0.39379	N	0.266717	0.981377	0.39770	D	3.46	0.92336	M	-4.04	0.96465	D	-2.91	0.60982	D	0.415	0.45520	1.043	0.97979	D	0.927	0.97601	D	10	0.6123196	0.67513	D	0.303557	0.90961	D	0.580	0.83081	0.384	0.40298	0.898534176303	0.89752	0.5995780334703891	0.59888	0.692431633833	0.60665	0.752315163612	0.74788	T	0.685387	0.90803	D	0.120235	0.66394	D	-0.0650671	0.65976	T	0.989463925361633	0.79699	D	0.831017	0.49766	T	0.7440135	0.80523	0.5270589	0.72675	0.7440135	0.80524	0.5270589	0.72675	-7.785	0.59595	D	0.2770756796120702	0.37175	0.930	0.85031	P	.	.	3.060384	0.41100	21.3	0.99839407367986555	0.91972	0.85331	0.44454	D	AEFDBI	0.586077	0.58426	D	0.579656383859094	0.71907	5.72267	0.473874561743895	0.66263	4.929493	0.870675316718076	0.25410	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	3.89	3.89	0.44098	0.425000	0.21065	0.146000	0.15234	0.599000	0.40250	0.993000	0.37899	0.937000	0.28687	0.926000	0.46234	0.0:0.9002:0.0:0.0998	9.244	0.36672	834	0.38640	IQ motif, EF-hand binding site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	416.88	220	chr17	63941038	.	C	G	416.88	.	AC=6;AF=0.214;AN=28;BaseQRankSum=-5.194e+00;DP=3372;ExcessHet=1.7912;FS=313.201;InbreedingCoeff=-0.3107;MLEAC=8;MLEAF=0.286;MQ=60.00;MQRankSum=0.00;QD=0.33;ReadPosRankSum=0.282;SOR=13.047	GT:AD:DP:GQ:PL	0/1:175,70:278:76:76,0,3507	8	0	6	7
chr17	63957197	63957197	C	T	exonic	SCN4A	.	nonsynonymous SNV	SCN4A:NM_000334:exon13:c.G2341A:p.V781I,	Hyperkalemic periodic paralysis, type 2, Autosomal dominant;Hypokalemic periodic paralysis, type 2, Autosomal dominant;Myasthenic syndrome, congenital, 16, Autosomal recessive;Myotonia congenita, atypical, acetazolamide-responsive, Autosomal dominant;Paramyotonia congenita, Autosomal dominant	.	1	1514	7	0	0	7	0.00230643	.	.	34005	not_specified|Hypokalemic_periodic_paralysis,_type_2|Potassium-aggravated_myotonia|not_provided|Joubert_syndrome_17|Congenital_myasthenic_syndrome_16|Familial_hyperkalemic_periodic_paralysis|Hypokalemic_periodic_paralysis,_type_1|Paramyotonia_congenita_of_Von_Eulenburg	MedGen:CN169374|MONDO:MONDO:0013234,MedGen:C2750061,OMIM:613345,Orphanet:681|MONDO:MONDO:0018959,MedGen:C2931826,OMIM:608390,Orphanet:612,Orphanet:99734,Orphanet:99735,Orphanet:99736|MedGen:C3661900|MONDO:MONDO:0013824,MedGen:C3553264,OMIM:614615,Orphanet:475|MONDO:MONDO:0013620,MedGen:C3280112,OMIM:614198,Orphanet:590|Human_Phenotype_Ontology:HP:0007215,MONDO:MONDO:0008224,MedGen:C0238357,OMIM:170500,Orphanet:682|MONDO:MONDO:0042979,MedGen:C3714580,OMIM:170400,Orphanet:681|MONDO:MONDO:0008195,MedGen:C0221055,OMIM:168300,Orphanet:684	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.891	P	0.364	B	0.000	D	1.000	D	1.1	L	-4.95	D	0.469	D	0.698	D	0.661	4.318	22.6	3.91	2.180	7.609	15.018	0.730	.	0.0046	0.0091853	0.0097	0.0021	0.0289	0.0201	0.0070	0.0075	0.0074	0.0026	0.009062	1401	154602	rs62070884	0.0076	0.0076	0.0079	0.0074	0.0307	0.0075	0.0074	0.0294	0.0288	0.0012	0.0307	0.0035	0.0239	0.0085	0.0014	0.0069	0.0054	0.0015	0.0087	0.0087	0.0075	0.0100	0.0310	0.0083	0.0082	0.0287	0.0278	0.0019	0	0.0310	0.0029	0.0187	0.0098	0	0.0080	0.0061	0.0012	0.051	0.39334	T	0.393	0.15355	T	0.891	0.49025	P	0.364	0.43306	B	0.000086	0.51296	D	0.127755	0.999681	0.48270	D	1.575	0.39704	L	-4.95	0.98428	D	-0.93	0.24898	N	0.787	0.78356	0.469	0.90111	D	0.698	0.89610	D	10	0.015130967	0.00318	T	.	.	.	0.730	0.90545	.	.	.	.	0.6270414422481512	0.62637	0.647554560069	0.58134	0.689928174019	0.65696	T	0.703438	0.91481	D	-0.0446516	0.45257	T	0.186082	0.82345	D	0.0190887025942754	0.00617	T	0.90081	0.65538	D	0.34728563	0.56855	0.25241587	0.50871	0.34728563	0.56855	0.25241587	0.50870	-8.835	0.66629	D	0.28733984521299344	0.38349	0.164	0.36194	B	.	.	4.570234	0.72093	25.8	0.99861989542368212	0.94002	0.88740	0.48813	D	AEFDGBCI	0.850779	0.76762	D	0.373509630198938	0.59991	4.183381	0.413791358474063	0.62423	4.457422	0.999931041148789	0.46732	0.661447	0.50134	0	0.588066	0.40923	0	0.644132	0.48003	0	0.613276	0.41899	0	.	.	3.91	3.91	0.44383	7.905000	0.86479	7.733000	0.67792	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	15.018	0.71261	811	0.42639	Ion transport domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	4797.11	35	chr17	63957197	.	C	T	4797.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.62;DP=1091;ExcessHet=0.1072;FS=2.771;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=1.42;SOR=0.840	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1381	19	0	2	0
chr17	63964507	63964507	C	T	exonic	SCN4A	.	nonsynonymous SNV	SCN4A:NM_000334:exon9:c.G1413A:p.M471I,	Hyperkalemic periodic paralysis, type 2, Autosomal dominant;Hypokalemic periodic paralysis, type 2, Autosomal dominant;Myasthenic syndrome, congenital, 16, Autosomal recessive;Myotonia congenita, atypical, acetazolamide-responsive, Autosomal dominant;Paramyotonia congenita, Autosomal dominant	.	1	1503	17	1	0	19	0.00628099	.	.	339683	Potassium-aggravated_myotonia|Familial_hyperkalemic_periodic_paralysis|not_provided|Hypokalemic_periodic_paralysis,_type_2|Congenital_myasthenic_syndrome_16|Paramyotonia_congenita_of_Von_Eulenburg	MONDO:MONDO:0018959,MedGen:C2931826,OMIM:608390,Orphanet:612,Orphanet:99734,Orphanet:99735,Orphanet:99736|Human_Phenotype_Ontology:HP:0007215,MONDO:MONDO:0008224,MedGen:C0238357,OMIM:170500,Orphanet:682|MedGen:C3661900|MONDO:MONDO:0013234,MedGen:C2750061,OMIM:613345,Orphanet:681|MONDO:MONDO:0013620,MedGen:C3280112,OMIM:614198,Orphanet:590|MONDO:MONDO:0008195,MedGen:C0221055,OMIM:168300,Orphanet:684	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.25	T	0.889	P	0.341	B	0.000	D	0.558	D	1.32	L	-3.84	D	0.548	D	0.727	D	0.374	2.225	13.40	4.9	2.533	1.177	8.495	0.458	0.20939919042	.	0.000798722	0.0007	0	0	0	0	0.0003	0.0011	0.0039	0.0005886	91	154602	rs527384137	0.0003	0.0003	0.0002	0.0004	0.0045	0.0003	0.0003	0.0032	0.0029	0	2.236e-05	0.0005	0	1.873e-05	0.0045	7.825e-05	0.0005	0.0034	0.0001	0.0002	7.706e-05	0.0002	0.0029	9.733e-05	8.249e-05	0.0018	0.0014	0	0	0	0.0006	0	0	0.0034	5.879e-05	0.0005	0.0029	0.101	0.30375	T	0.341	0.17964	T	0.889	0.48869	P	0.341	0.42432	B	0.000025	0.55875	D	0.157058	0.558257	0.32191	D	0.72	0.18721	N	-3.84	0.95826	D	-1.61	0.38734	N	0.292	0.33030	0.548	0.91205	D	0.727	0.90665	D	10	0.012795389	0.00274	T	0.209399	0.87197	D	0.458	0.75619	0.477	0.55502	0.813402561589	0.81164	0.3318528599119761	0.33098	0.27892697211	0.30372	0.485950410366	0.36878	T	0.374278	0.73811	T	-0.171903	0.24946	T	-0.0211762	0.68951	D	0.100660812212562	0.12430	T	0.940956	0.77922	D	0.46488395	0.64975	0.49076197	0.70540	0.46488395	0.64975	0.49076197	0.70540	-6.067	0.46836	T	0.09103757524593284	0.05734	0.627	0.69995	P	.	.	3.252728	0.44454	21.9	0.98419421969431442	0.41266	0.84311	0.43393	D	AEFDGBI	0.292559	0.40340	N	0.215408235574135	0.51946	3.372059	0.279162730105717	0.54324	3.59776	0.0505720881189988	0.14844	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.9	4.9	0.63643	1.695000	0.37381	4.034000	0.41364	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.1606:0.6615:0.1779:0.0	8.495	0.32282	795	0.45444	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	1011.98	35	chr17	63964507	.	C	T	1011.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.090e-01;DP=819;ExcessHet=0.0000;FS=5.287;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=-1.227e+00;SOR=1.242	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1098	20	0	1	0
chr17	64055764	64055764	G	A	exonic	ERN1	.	nonsynonymous SNV	ERN1:NM_001433:exon13:c.C1583T:p.T528M,	.	.	381	1133	8	0	0	8	0.00351803	.	.	2222942	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.017	B	0.001	B	0.007	N	0.996	N	-0.69	N	0.2	T	-1.057	T	0.061	T	0.091	1.845	12.13	2.44	0.925	2.561	4.387	0.114	0.0158499193337	.	0.000199681	0.0002	0.0001	0.0001	0	0	2.205e-05	0	0.0013	0.0001358	21	154602	rs546366953	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0002	0.0012	0.0009	2.991e-05	2.265e-05	0	2.527e-05	1.915e-05	0.0021	0.0002	0.0001	0.0011	0.0001	0.0001	0.0002	8.055e-05	0.0010	7.572e-05	6.277e-05	0.0004	0.0003	9.625e-05	0	0	0	0	0	0	0.0001	0	0.0010	0.136	0.26085	T	0.142	0.33330	T	0.017	0.17573	B	0.001	0.04355	B	0.007468	0.31378	N	0.309004	0.996324	0.23049	N	0.205	0.09354	N	0.2	0.60111	T	-0.33	0.12472	N	0.161	0.16864	-1.0574	0.12414	T	0.061	0.25310	T	10	0.0123716295	0.00266	T	0.01585	0.36807	T	0.114	0.32008	.	.	0.401767401478	0.39795	0.2162798800807302	0.21543	0.439492444205	0.43977	0.285005092621	0.08199	T	0.176892	0.52700	T	-0.522025	0.00428	T	-0.568181	0.15617	T	0.0196864910711745	0.00671	T	0.857714	0.54741	D	0.022903724	0.00988	0.044467606	0.05767	0.022903724	0.00988	0.044467606	0.05767	-5.009	0.36938	T	.	.	0.077	0.06479	B	.	.	2.304195	0.29484	18.14	0.96727146315015444	0.30873	0.40896	0.26538	N	AEFDBI	0.142514	0.26498	N	-0.578639723423026	0.19595	1.026739	-0.397556632567177	0.25069	1.376499	0.990441978563673	0.32155	0.562547	0.31514	0	0.577304	0.33150	0	0.55559	0.18752	1	0.635551	0.53088	0	.	.	4.97	2.44	0.28875	2.590000	0.45819	1.503000	0.26970	0.654000	0.53741	0.506000	0.27002	0.988000	0.31051	0.572000	0.30699	0.4888:0.0:0.5112:0.0	4.387	0.10753	831	0.39019	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2492.11	35	chr17	64055764	.	G	A	2492.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.61;DP=915;ExcessHet=0.1072;FS=0.492;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.08;ReadPosRankSum=2.24;SOR=0.757	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1323	19	0	2	0
chr17	64534702	64534702	G	A	exonic	CEP95	.	nonsynonymous SNV	CEP95:NM_001316990:exon16:c.G1543A:p.A515T	.	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.97	D	0.676	P	0.000	D	1.000	D	2.175	M	0.57	T	-0.540	T	0.246	T	0.549	3.381	17.41	3.71	0.812	5.226	14.930	0.197	0.0313778178004	.	.	1.926e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs782554224	5.477e-06	6.156e-06	5.449e-06	5.506e-06	5.811e-05	2.36e-06	1.7e-06	2.198e-05	1.433e-05	0	0	0	2.523e-05	0	0	8.998e-07	1.657e-05	5.811e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.005	0.72224	D	0.97	0.56973	D	0.676	0.53321	P	0.000016	0.62929	D	0.112665	0.998543	0.45064	D	2.595	0.75868	M	0.38	0.57575	T	-2.61	0.56144	D	0.597	0.61596	-0.5400	0.67163	T	0.246	0.61530	T	10	0.46684518	0.59622	T	0.031378	0.53475	D	0.197	0.47942	0.296	0.26041	0.745669495734	0.74337	0.30433117211636534	0.30346	0.129564647105	0.14605	0.486356794834	0.36934	T	0.256056	0.72339	T	-0.104931	0.35609	T	-0.206356	0.54044	T	0.878556609153748	0.52849	D	0.911709	0.68653	D	0.31179148	0.53941	0.36288977	0.61686	0.31179148	0.53941	0.36288977	0.61685	-8.513	0.64515	D	.	.	0.246	0.48018	B	.;.	.;.	3.281216	0.44954	22.0	0.99815049657354282	0.89885	0.93356	0.57998	D	AEFBCI	0.602061	0.59407	D	0.28927709854192	0.55604	3.72446	0.203033482899841	0.50016	3.198075	0.999611866346642	0.40981	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.741806	0.99463	0	.	.	5.76	3.71	0.41733	5.404000	0.66088	7.085000	0.57485	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.046000	0.14843	0.0:0.0:0.725:0.275	14.930	0.70558	939	0.14249	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	513.98	61	chr17	64534702	.	G	A	513.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.058e+00;DP=768;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.43;ReadPosRankSum=-1.621e+00;SOR=0.705	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1269	20	0	1	0
chr17	64860856	64860856	C	T	exonic	LRRC37A3	.	nonsynonymous SNV	LRRC37A3:NM_001303255:exon8:c.G644A:p.G215D	.	.	429	1087	6	0	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.006	B	0.004	B	.	.	1.000	N	0.09	N	1.04	T	-1.011	T	0.025	T	0.325	0.162	4.869	-4.79	-0.963	-1.533	0.563	0.041	0.0100325638388	0.0018	0.00119808	0.0020	0.0003	0.0003	0	0.0009	0.0028	0.0011	0.0020	0.0016623	257	154602	rs143229372	0.0021	0.0021	0.0021	0.0021	0.0029	0.0020	0.0020	0.0019	0.0019	0.0001	0.0008	0.0138	0	0.0016	0.0029	0.0020	0.0027	0.0018	0.0016	0.0016	0.0017	0.0014	0.0019	0.0014	0.0013	0.0016	0.0015	0.0002	0.0066	0.0010	0.0147	0	0.0008	0.0102	0.0019	0.0033	0.0014	0.526	0.09572	T	0.511	0.34124	T	0.006	0.13644	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.685	0.16464	N	1.04	0.61798	T	-1.8	0.42384	N	0.056	0.05037	-1.0106	0.26729	T	0.025	0.10598	T	9	0.005270511	0.00115	T	0.010033	0.26080	T	0.041	0.10877	.	.	0.0138822411134	0.00435	0.12198353408426049	0.12125	.	.	0.560966074467	0.47405	T	0.021365	0.16653	T	-0.476692	0.00774	T	-0.463988	0.26167	T	0.00221871296743957	0.00023	T	0.467153	0.38180	T	0.04569344	0.07521	0.04484057	0.05900	0.04569344	0.07521	0.04484057	0.05899	-5.13	0.38221	T	.	.	0.103	0.18414	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.672894	0.01385	0.080	0.37832283222502461	0.02516	0.00203	0.01164	N	AEFBI	0.021560	0.00973	N	-1.53588955681169	0.01618	0.0707643	-1.62785422694658	0.01494	0.06765724	3.23963829592123E-5	0.03775	0.660377	0.49826	0	0.627178	0.54094	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	2.46	-4.79	0.02966	-1.020000	0.03729	-5.218000	0.01802	-0.958000	0.01995	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.186:0.2045:0.1854:0.424	0.563	0.00637	934	0.15400	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3293.98	36	chr17	64860856	.	C	T	3293.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=976;ExcessHet=0.0000;FS=4.542;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.87;MQRankSum=0.00;QD=14.58;ReadPosRankSum=-7.730e-01;SOR=0.974	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr17	64895958	64895958	C	T	exonic	LRRC37A3	.	nonsynonymous SNV	LRRC37A3:NM_199340:exon4:c.G1300A:p.V434I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.001	B	0.001	B	.	.	1.000	N	0.805	L	0.1	T	-1.040	T	0.100	T	0.021	-0.682	1.032	-5.25	-1.859	-4.489	6.033	0.043	0.00249989707502	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1256683927	4.949e-05	4.373e-05	2.596e-05	7.173e-05	0.0006	3.824e-05	3.457e-05	0.0005	0.0004	0	0	0	0	0	0	5.514e-06	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.282	0.21545	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.11	0.28643	L	0.1	0.61326	T	-0.48	0.15379	N	0.014	0.00160	-1.0396	0.17434	T	0.100	0.37060	T	9	0.04237011	0.02981	T	0.003	0.04980	T	0.043	0.11576	0.151	0.05441	0.0138822411134	0.00435	0.030950138306630424	0.03044	.	.	0.561474680901	0.47475	T	0.003834	0.03242	T	-0.584822	0.00180	T	-0.71139	0.05224	T	0.041137073493679	0.03896	T	0.352165	0.07899	T	0.045105524	0.07325	0.03160179	0.01773	0.045105524	0.07325	0.03160179	0.01772	-2.96	0.09757	T	.	.	0.100	0.17016	B	.;.	.;.	-0.870396	0.00976	0.039	0.70764425107543216	0.09403	0.00070	0.00494	N	AEFI	0.030862	0.03186	N	-1.77519725141673	0.00609	0.02623636	-1.90652037832596	0.00475	0.02104538	7.07337917678514E-4	0.07666	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	2.63	-5.25	0.02567	-2.135000	0.01393	-7.247000	0.01198	0.193000	0.17869	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5933:0.2465:0.1602	6.033	0.18916	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	197.34	35	chr17	64895958	.	C	T	197.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-5.110e-01;DP=431;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0257;MLEAC=1;MLEAF=0.025;MQ=24.69;MQRankSum=1.04;QD=7.05;ReadPosRankSum=-1.487e+00;SOR=0.269	GT:AD:DP:GQ:PL	0/0:23,0:23:66:0,66,990	19	0	1	1
chr17	65053567	65053567	T	C	exonic	GNA13	.	nonsynonymous SNV	GNA13:NM_001282425:exon2:c.A160G:p.I54V	.	.	437	1077	8	0	0	8	0.00370028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.874	P	0.926	D	0.000	D	1.000	D	1.525	L	-2.66	D	0.708	D	0.786	D	0.536	3.387	17.43	5.42	2.058	3.986	15.496	0.577	0.0632272270042	0.0002	0.000399361	0.0002	0	0.0003	0.0002	0	0.0002	0	0.0005	0.0002199	34	154602	rs201626569	0.0003	0.0003	0.0003	0.0003	0.0014	0.0003	0.0003	0.0007	0.0005	8.963e-05	0.0002	0	0.0003	1.872e-05	0.0014	0.0003	0.0003	0.0006	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0004	0.0004	0.0001	0	6.535e-05	0	0	0	0	0.0005	0	0.0002	0.088	0.35349	T	0.125	0.37037	T	0.874	0.48047	P	0.926	0.66095	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.44	0.36004	L	-2.66	0.90272	D	-0.59	0.17624	N	0.359	0.40063	0.708	0.93271	D	0.786	0.92733	D	10	0.15986237	0.30025	T	0.063227	0.68900	D	0.577	0.82912	.	.	0.738346921943	0.73600	0.5162074885067635	0.51543	0.710361414038	0.61678	0.593113064766	0.51934	T	0.388412	0.74909	T	-0.117855	0.33475	T	-0.0708075	0.65568	T	0.0831566354084816	0.10385	T	0.783222	0.42574	T	0.21397711	0.43790	0.114751406	0.27700	0.21397711	0.43790	0.114751406	0.27699	-4.556	0.36644	T	.	.	0.107	0.19879	B	.;.	.;.	2.922234	0.38794	20.8	0.99662929608073791	0.78074	0.96961	0.71893	D	AEFDBHI	0.573232	0.57650	D	0.544900695550755	0.69771	5.40467	0.558676749192964	0.72004	5.741852	0.999999999999393	0.74766	0.744818	0.98587	0	0.672317	0.65289	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.42	5.42	0.78666	3.968000	0.56516	2.407000	0.32622	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.496	0.75386	603	0.67726	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1115.98	33	chr17	65053567	.	T	C	1115.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=814;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.83;ReadPosRankSum=2.01;SOR=0.639	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr17	65160323	65160323	G	A	exonic	RGS9	.	nonsynonymous SNV	RGS9:NM_001081955:exon4:c.G296A:p.S99N	Bradyopsia	.	0	1515	7	0	0	7	0.00230491	.	.	950177	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.998	D	0.947	D	0.000	D	0.792	D	2.325	M	1.86	T	-0.682	T	0.154	T	0.429	0.700	7.734	5.67	2.661	3.241	12.920	0.247	0.026923810084	.	.	0.0001	0	8.646e-05	0	0	0.0002	0	0.0001	9.7e-05	15	154602	rs199644053	0.0001	0.0001	0.0001	0.0001	0.0010	0.0001	0.0001	0.0005	0.0003	0	4.472e-05	0	0	0	0.0010	0.0001	8.281e-05	2.319e-05	0.0001	0.0001	0.0001	0.0001	0.0002	7.089e-05	5.746e-05	0.0001	0.0001	0	0	0.0001	0	0	0	0	0.0002	0	0	0.002	0.72154	D	0.004	0.74150	D	0.998	0.73220	D	0.911	0.68407	D	0.000309	0.45977	D	0.259107	0.792413	0.34404	D	2.89	0.83701	M	1.86	0.24285	T	-2.23	0.52451	N	0.633	0.66101	-0.6821	0.61275	T	0.154	0.48412	T	10	0.30649507	0.48159	T	0.026924	0.49793	D	0.247	0.55478	.	.	0.72348304321	0.72104	0.661712266188147	0.66108	0.620262069555	0.56343	0.564507603645	0.47904	T	0.144433	0.78388	T	-0.263695	0.12470	T	-0.342257	0.40088	T	0.270143571897617	0.23753	T	0.760524	0.38496	T	0.25126415	0.48133	0.33067042	0.58934	0.25126415	0.48133	0.33067042	0.58934	-10.078	0.74378	D	0.5512813838106042	0.61986	0.275	0.54761	B	.;.;.;.	.;.;.;.	4.594914	0.72715	25.9	0.85588965935708838	0.15987	0.84578	0.43661	D	AEFBI	0.410536	0.48137	N	0.583490109104739	0.72146	5.759785	0.53313560554831	0.70231	5.475154	0.99679338267133	0.35014	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.616125	0.45549	0	.	.	5.67	5.67	0.87673	3.475000	0.52900	11.695000	0.94414	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0:0.163:0.837:0.0	12.920	0.57623	389	0.83303	DEP domain|DEP domain|DEP domain;DEP domain|DEP domain|DEP domain;.;DEP domain|DEP domain|DEP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2638.98	33	chr17	65160323	.	G	A	2638.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.978e+00;DP=914;ExcessHet=0.0000;FS=1.738;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.33;ReadPosRankSum=0.884;SOR=0.569	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1437	20	0	1	0
chr17	65193569	65193569	C	T	exonic	RGS9	.	nonsynonymous SNV	RGS9:NM_001081955:exon12:c.C764T:p.S255L	Bradyopsia	.	0	1453	66	3	0	72	0.0241773	.	.	177291	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.39	T	0.005	B	0.008	B	0.895	N	1.000	N	0.265	N	1.77	T	-0.993	T	0.005	T	0.124	0.756	8.002	-2.42	-0.633	-1.119	3.740	0.008	.	0.0013	0.0161741	0.0095	0.0006	0.0046	0.0310	0.0112	0.0027	0.0144	0.0337	0.0085898	1328	154602	rs12452285	0.0052	0.0052	0.0043	0.0060	0.0402	0.0051	0.0050	0.0386	0.0379	0.0004	0.0041	0.0078	0.0402	0.0092	0.0208	0.0014	0.0075	0.0342	0.0050	0.0051	0.0042	0.0060	0.0338	0.0048	0.0046	0.0297	0.0281	0.0003	0	0.0069	0.0084	0.0338	0.0106	0.0306	0.0021	0.0104	0.0330	0.533	0.07140	T	0.364	0.16766	T	0.004	0.12996	B	0.005	0.13708	B	0.894996	0.08660	N	0.956108	1	0.08975	N	-0.245	0.03879	N	1.77	0.25841	T	-1.88	0.44284	N	0.139	0.13769	-0.9934	0.31722	T	0.005	0.01615	T	10	0.0018083751	0.00024	T	.	.	.	0.008	0.00669	.	.	0.295623431141	0.29171	0.40981414253841425	0.40897	0.163159783007	0.18410	0.422357261181	0.28161	T	0.022342	0.63366	T	-0.666907	0.00057	T	-0.70498	0.05558	T	0.00227030650160815	0.00024	T	0.743826	0.36376	T	0.06679562	0.14405	0.053073827	0.08868	0.06560212	0.14035	0.06338211	0.12547	-5.984	0.47125	T	0.055369267226966966	0.01226	0.051	0.00199	B	.;.;.;.	.;.;.;.	0.374779	0.07468	4.108	0.80115924886704315	0.13052	0.01742	0.05496	N	AEFDGBHCI	0.041638	0.06357	N	-1.25891773679573	0.04184	0.1883233	-1.2419042002241	0.05252	0.2498028	0.999989128191357	0.51787	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.83	-2.42	0.06164	-0.773000	0.04795	-0.240000	0.10600	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.914000	0.44937	0.114:0.2403:0.112:0.5337	3.740	0.08054	403	0.82567	G-protein gamma-like domain|G-protein gamma-like domain|G-protein gamma-like domain;G-protein gamma-like domain|G-protein gamma-like domain|G-protein gamma-like domain;.;G-protein gamma-like domain|G-protein gamma-like domain|G-protein gamma-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1497.98	34	chr17	65193569	.	C	T	1497.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.660e-01;DP=820;ExcessHet=0.0000;FS=2.329;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.69;ReadPosRankSum=0.086;SOR=0.510	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1193	20	0	1	0
chr17	65197209	65197209	G	A	exonic	RGS9	.	nonsynonymous SNV	RGS9:NM_001081955:exon13:c.G935A:p.S312N	Bradyopsia	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.003	B	0.005	B	0.000	D	0.584	D	0.695	N	4.51	T	-0.960	T	0.006	T	0.106	2.077	12.90	5.27	2.468	6.050	10.125	0.084	0.00369515167783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.841e-07	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.11156	T	0.469	0.12281	T	0.001	0.07471	B	0.003	0.11217	B	0.000001	0.84330	D	0.096565	0.583565	0.32395	D	0.695	0.17993	N	4.51	0.02015	T	0.36	0.03700	N	0.149	0.17691	-0.9603	0.39124	T	0.006	0.02018	T	10	0.32273042	0.49619	T	0.003695	0.08527	T	0.084	0.24469	0.471	0.54537	0.520854953866	0.51730	0.6165367456781605	0.61585	0.173124322031	0.19496	0.693837344646	0.66257	T	0.009365	0.53346	T	-0.278149	0.10866	T	-0.637318	0.09866	T	0.836281597614288	0.49027	D	0.732627	0.34815	T	0.1887908	0.40393	0.17777571	0.40403	0.1887908	0.40393	0.17777571	0.40402	-3.974	0.25157	T	0.08201303454841109	0.04293	0.145	0.34116	B	.;.;.;.	.;.;.;.	2.801280	0.36851	20.4	0.93393422177013086	0.23148	0.82986	0.42144	D	AEFBI	0.510082	0.53928	D	-0.100218921140115	0.37383	2.174131	0.115587155817107	0.45344	2.799354	0.977608012588753	0.29837	0.554377	0.28877	0	0.593476	0.48661	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.27	5.27	0.73797	6.096000	0.71091	11.310000	0.92434	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.123:0.0:0.877:0.0	10.125	0.41820	406	0.82375	RGS domain|RGS domain|RGS domain|RGS domain;RGS domain|RGS domain|RGS domain|RGS domain;.;RGS domain|RGS domain|RGS domain|RGS domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1173.98	36	chr17	65197209	.	G	A	1173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.545e+00;DP=811;ExcessHet=0.0000;FS=1.712;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=-7.200e-02;SOR=0.482	GT:AD:DP:GQ:PL	0/1:42,52:94:99:1188,0,994	20	0	1	0
chr17	65536476	65536476	A	G	exonic	AXIN2	.	nonsynonymous SNV	AXIN2:NM_001363813:exon7:c.T1790C:p.L597P	Colorectal cancer, somatic;Oligodontia-colorectal cancer syndrome, Autosomal dominant	.	0	1507	15	0	0	15	0.00495213	.	.	133396	Hereditary_cancer-predisposing_syndrome|AXIN2-related_disorder|not_provided|Oligodontia-cancer_predisposition_syndrome|not_specified	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|.|MedGen:C3661900|MONDO:MONDO:0012075,MedGen:C1837750,OMIM:608615,Orphanet:300576|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.5	T	0.009	B	0.004	B	0.035	N	1.000	D	-0.49	N	0.18	T	-1.004	T	0.052	T	0.524	1.512	11.01	5.42	2.039	3.905	8.039	0.169	0.0253284383472	0.0014	0.000998403	0.0011	0.0004	0.0005	0	0	0.0015	0.0011	0.0011	0.0010931	169	154602	rs142476324	0.0012	0.0012	0.0012	0.0013	0.0036	0.0012	0.0012	0.0024	0.0020	0.0004	0.0008	3.826e-05	0	7.528e-05	0.0036	0.0014	0.0012	0.0010	0.0009	0.0009	0.0011	0.0007	0.0015	0.0008	0.0007	0.0013	0.0012	0.0004	0.0044	0.0004	0	0	0	0.0034	0.0015	0.0009	0.0006	0.403	0.11586	T	0.754	0.19480	T	0.001	0.07471	B	0.003	0.08700	B	0.035400	0.24650	N	0.405202	0.99983	0.49637	D	.	.	.	0.18	0.61208	T	2.88	0.00637	N	0.359	0.40063	-1.0036	0.28874	T	0.052	0.21960	T	10	0.01240769	0.00267	T	0.025328	0.48303	D	0.169	0.43123	.	.	0.287603790349	0.28378	0.16448546333733363	0.16368	0.289863403258	0.31394	0.585605740547	0.50876	T	0.220625	0.58396	T	-0.340044	0.05384	T	-0.28024	0.46779	T	0.0166584047129136	0.00425	T	0.685431	0.29402	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.09627	B	.;.;.	.;.;.	2.327978	0.29821	18.24	0.97445971218529881	0.34002	0.86498	0.45790	D	AEFDGBCI	0.367924	0.45520	N	-0.302762411198278	0.29043	1.607105	-0.0394925493483549	0.37949	2.228947	0.999999997003174	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.528226	0.09195	0	.	.	5.42	5.42	0.78666	3.804000	0.55272	7.925000	0.74723	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.8461:0.0:0.1539:0.0	8.039	0.29671	914	0.21048	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1630.98	33	chr17	65536476	.	A	G	1630.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.089;DP=917;ExcessHet=0.0000;FS=2.271;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=0.122;SOR=0.712	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	20	0	1	0
chr17	65537801	65537801	T	C	exonic	AXIN2	.	nonsynonymous SNV	AXIN2:NM_001363813:exon6:c.A1235G:p.N412S	Colorectal cancer, somatic;Oligodontia-colorectal cancer syndrome, Autosomal dominant	.	0	1450	68	4	0	76	0.0255376	.	.	140180	Oligodontia-cancer_predisposition_syndrome|Colorectal_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|AXIN2-related_disorder|not_provided	MONDO:MONDO:0012075,MedGen:C1837750,OMIM:608615,Orphanet:300576|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.91	T	0.0	B	0.0	B	0.565	N	1.000	N	0	N	-1.56	D	-0.936	T	0.156	T	0.015	-2.200	0.005	1.49	0.454	-0.028	2.543	0.119	.	0.0052	0.0109824	0.0255	0.0118	0.0246	0	0.0163	0.0171	0.0403	0.0720	0.0087386	1351	154602	rs115931022	0.0081	0.0082	0.0071	0.0091	0.0413	0.0079	0.0079	0.0402	0.0397	0.0049	0.0042	0.0110	5.144e-05	0.0075	0.0123	0.0060	0.0088	0.0413	0.0066	0.0066	0.0059	0.0075	0.0373	0.0063	0.0062	0.0328	0.0311	0.0045	0.0088	0.0046	0.0107	0	0.0074	0.0068	0.0064	0.0061	0.0373	0.711	0.04032	T	0.978	0.03232	T	0.0	0.02946	B	0.0	0.01387	B	0.564828	0.11299	N	0.831754	1	0.08975	N	.	.	.	-1.56	0.81815	D	0.92	0.01573	N	0.036	0.01911	-0.9358	0.43272	T	0.156	0.48790	T	10	0.0022900105	0.00034	T	.	.	.	0.119	0.33137	.	.	0.317667799068	0.31381	0.05896677085188693	0.05837	0.137606114231	0.15513	0.506385922432	0.39717	T	0.213036	0.57424	T	-0.588971	0.00170	T	-0.590929	0.13586	T	0.000142969275675003	0.00001	T	0.591241	0.21771	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00341	B	.;.;.	.;.;.	-0.233198	0.02926	0.426	0.40458132405281355	0.02856	0.00666	0.02877	N	AEFBHCI	0.017376	0.00451	N	-1.31904659681124	0.03457	0.1544737	-1.27316756167192	0.04796	0.2271101	0.999999724797711	0.74766	0.631515	0.41029	0	0.653731	0.59785	0	0.697927	0.64325	0	0.491896	0.07777	0	.	.	4.9	1.49	0.21966	0.023000	0.13424	0.568000	0.19578	-1.413000	0.01131	0.000000	0.06391	0.272000	0.24054	0.001000	0.02609	0.2494:0.4817:0.1226:0.1463	2.543	0.04444	913	0.21160	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1996.98	83	chr17	65537801	.	T	C	1996.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.811;DP=1124;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.90;ReadPosRankSum=-2.690e-01;SOR=0.686	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr17	65558578	65558578	T	C	exonic	AXIN2	.	nonsynonymous SNV	AXIN2:NM_001363813:exon2:c.A43G:p.S15G	Colorectal cancer, somatic;Oligodontia-colorectal cancer syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	574606	Hereditary_cancer-predisposing_syndrome|Oligodontia-cancer_predisposition_syndrome	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0012075,MedGen:C1837750,OMIM:608615,Orphanet:300576	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.7	T	0.043	B	0.017	B	0.000	D	1.000	D	1.15	L	-0.07	T	-0.730	T	0.277	T	0.218	1.504	10.98	4.74	1.757	2.520	13.242	0.115	0.0286691070825	.	.	4.239e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs759551291	2.261e-05	2.257e-05	5.455e-06	3.993e-05	0.0004	1.613e-05	1.419e-05	0.0003	0.0002	0	0	0	0	0	0	0	3.312e-05	0.0004	6.565e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.435	0.20381	T	0.495	0.11515	T	0.043	0.21573	B	0.017	0.18140	B	0.000000	0.84330	D	0.046113	0.999724	0.48557	D	.	.	.	-0.07	0.77206	T	-0.32	0.19085	N	0.191	0.26957	-0.7302	0.58953	T	0.277	0.64835	T	10	0.074406296	0.11370	T	0.028669	0.51308	D	0.115	0.32236	0.107	0.01868	0.67593064658	0.67318	0.336595948457001	0.33572	0.168730885514	0.19026	0.526816606522	0.42586	T	0.217724	0.58551	T	-0.280139	0.10652	T	-0.318211	0.42770	T	0.0641446767970214	0.07803	T	0.870213	0.57527	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.02639	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.083879	0.41495	21.4	0.8659770641010156	0.16643	0.78317	0.38621	D	AEFDBCI	0.452531	0.50604	N	-0.303547657460449	0.29012	1.605197	-0.135089467718812	0.33988	1.950041	0.999999999244395	0.74766	0.72623	0.87236	0	0.627608	0.54475	0	0.594344	0.31042	0	0.491896	0.07777	0	.	.	4.74	4.74	0.59717	3.094000	0.49919	7.753000	0.68172	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	13.242	0.59430	898	0.25240	.;Axin-1/2, tankyrase-binding domain|Axin-1/2, tankyrase-binding domain;Axin-1/2, tankyrase-binding domain|Axin-1/2, tankyrase-binding domain;Axin-1/2, tankyrase-binding domain|Axin-1/2, tankyrase-binding domain;Axin-1/2, tankyrase-binding domain|Axin-1/2, tankyrase-binding domain;Axin-1/2, tankyrase-binding domain|Axin-1/2, tankyrase-binding domain;Axin-1/2, tankyrase-binding domain|Axin-1/2, tankyrase-binding domain;Axin-1/2, tankyrase-binding domain|Axin-1/2, tankyrase-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1362.98	34	chr17	65558578	.	T	C	1362.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.030e+00;DP=883;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=-6.910e-01;SOR=0.711	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1141	20	0	1	0
chr17	66176972	66176972	C	T	exonic	CEP112	.	nonsynonymous SNV	CEP112:NM_001199165:exon3:c.G155A:p.G52E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.383	B	0.116	B	0.039	N	1.000	D	2.125	M	0.87	T	-0.891	T	0.118	T	0.665	3.818	19.39	3.33	1.245	1.535	11.872	0.157	0.0192139142075	.	0.000199681	6.594e-05	0	0	0	0	0	0	0.0005	5.82e-05	9	154602	rs537743865	3.079e-05	3.078e-05	8.17e-06	5.364e-05	0.0005	2.347e-05	2.095e-05	0.0004	0.0003	0	0	0	0	0	0	8.995e-07	0	0.0005	1.971e-05	1.969e-05	1.286e-05	2.687e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.003e-05	0	0	0	0	0	0	0	0	0	0.0006	0.002	0.72154	D	0.014	0.62352	D	0.383	0.34425	B	0.116	0.31939	B	0.038628	0.24263	N	0.369222	0.841926	0.35081	D	2.2	0.62015	M	0.87	0.46412	T	-2.33	0.53736	N	0.594	0.62357	-0.8906	0.48881	T	0.118	0.41385	T	10	0.092728525	0.16354	T	0.019214	0.41510	T	0.157	0.40909	0.394	0.41935	0.232513804876	0.22884	0.458883684692556	0.45806	0.501200625212	0.48514	0.649745762348	0.59950	T	0.027647	0.43092	T	-0.212896	0.18974	T	-0.22162	0.52580	T	0.211447218693555	0.21029	T	0.89781	0.66280	D	0.3352726	0.55901	0.49342355	0.70700	0.3352726	0.55901	0.49342355	0.70700	-5.994	0.46229	T	.	.	0.574	0.68110	P	.;.;.;.	.;.;.;.	4.724920	0.76035	26.4	0.99767378569520515	0.85583	0.70666	0.34685	D	AEFBI	0.114431	0.22540	N	0.0515877187242134	0.44216	2.69969	0.116168212419302	0.45375	2.801808	1.16337357325912E-4	0.05269	0.706298	0.61202	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.33	3.33	0.37245	1.589000	0.36253	7.447000	0.58926	0.599000	0.40250	0.941000	0.32681	1.000000	0.68203	0.993000	0.69303	0.0:0.8545:0.0:0.1455	11.872	0.51805	851	0.35303	Domain of unknown function DUF4485;Domain of unknown function DUF4485;Domain of unknown function DUF4485;Domain of unknown function DUF4485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1834.98	33	chr17	66176972	.	C	T	1834.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.879;DP=849;ExcessHet=0.0000;FS=2.985;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=-1.383e+00;SOR=0.963	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1152	20	0	1	0
chr17	67109247	67109247	T	G	exonic	HELZ	.	nonsynonymous SNV	HELZ:NM_001330447:exon29:c.A4361C:p.Q1454P	.	.	432	1070	19	1	0	21	0.00971772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.0	B	0.0	B	0.125	N	0.940	N	-0.205	N	-1.65	D	-0.886	T	0.185	T	0.268	1.226	9.975	2.9	0.255	0.716	7.480	0.141	0.0533471789961	0.0022	0.000798722	0.0031	0.0004	0.0048	0	0	0.0044	0.0044	0.0008	0.0028331	438	154602	rs200486206	0.0023	0.0023	0.0023	0.0024	0.0286	0.0023	0.0022	0.0251	0.0237	0.0014	0.0047	0.0456	0	0	0.0286	0.0012	0.0063	0.0011	0.0029	0.0029	0.0028	0.0030	0.0063	0.0027	0.0026	0.0053	0.0049	0.0004	0	0.0063	0.0452	0	0	0.0136	0.0020	0.0133	0.0006	0.403	0.10378	T	0.16	0.31427	T	0.0	0.02946	B	0.0	0.01387	B	0.125400	0.18844	N	0.586313	0.939514	0.26833	N	0.55	0.14455	N	-1.65	0.82625	D	0.15	0.05310	N	0.258	0.29774	-0.8856	0.49307	T	0.185	0.53436	T	10	0.003847301	0.00073	T	0.053347	0.65431	D	0.141	0.37795	.	.	0.182106788282	0.17826	0.12000937366773848	0.11927	0.199647858005	0.22366	0.377299427986	0.21872	T	0.046825	0.27539	T	-0.373561	0.03418	T	-0.307037	0.43977	T	0.00676942539424807	0.00076	T	0.725927	0.34027	T	0.043905076	0.06924	0.08426442	0.19370	0.06797795	0.14768	0.100794375	0.24111	-2.667	0.07030	T	.	.	0.066	0.08899	B	.;.	.;.	1.652874	0.21087	15.04	0.91971265482899434	0.21301	0.75661	0.37057	D	AEFDGBIJ	0.162986	0.28922	N	-0.518538489684839	0.21480	1.140282	-0.322269548668815	0.27380	1.518927	0.999995072417583	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.22	2.9	0.32809	0.722000	0.25595	0.161000	0.15406	0.568000	0.28809	0.999000	0.42656	0.939000	0.28734	0.997000	0.79791	0.1339:0.0:0.2792:0.5868	7.480	0.26567	550	0.72197	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1000.98	33	chr17	67109247	.	T	G	1000.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.132e+00;DP=787;ExcessHet=0.0000;FS=4.452;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=0.170;SOR=0.760	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr17	67167482	67167482	C	T	exonic	HELZ	.	nonsynonymous SNV	HELZ:NM_001330447:exon14:c.G1745A:p.R582Q	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.263	B	0.008	B	0.007	N	0.892	D	-0.805	N	-1.55	D	-0.663	T	0.197	T	0.408	2.019	12.71	4.99	2.467	1.529	12.069	0.251	0.0212275812519	.	.	.	.	.	.	.	.	.	.	.	.	.	rs750066876	4.109e-06	4.104e-06	4.089e-06	4.129e-06	0.0002	1.48e-06	9.7e-07	8.4e-07	5.7e-07	0	2.24e-05	0	0	0	0.0002	3.601e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.502	0.07695	T	0.763	0.04587	T	0.064	0.23455	B	0.008	0.13708	B	0.007199	0.31545	N	0.343015	0.892258	0.35979	D	-0.145	0.04423	N	-1.55	0.81727	D	1.08	0.01263	N	0.121	0.14480	-0.6627	0.62157	T	0.197	0.55229	T	10	0.06359774	0.08309	T	0.021228	0.43966	T	0.251	0.56024	0.395	0.42099	0.314436011497	0.31061	0.19781620037163616	0.19698	0.747903240983	0.63614	0.365749806166	0.20220	T	0.06128	0.31612	T	-0.0507089	0.44338	T	-0.227751	0.51989	T	0.293358534574509	0.24730	T	0.908809	0.67676	D	0.049792994	0.08895	0.046388436	0.06456	0.049792994	0.08895	0.046388436	0.06455	-1.449	0.01663	T	.	.	0.066	0.03552	B	.;.	.;.	3.452717	0.48089	22.6	0.97507298991021663	0.34331	0.85944	0.45138	D	AEFBI	0.116181	0.22812	N	-0.337241596383512	0.27743	1.524649	-0.0878261985498034	0.35891	2.081997	0.170638396447824	0.17730	0.706548	0.73137	0	0.653731	0.59785	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.99	4.99	0.65942	1.544000	0.35764	5.958000	0.51771	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9207:0.0:0.0793	12.069	0.52901	624	0.65661	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	858.98	34	chr17	67167482	.	C	T	858.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=757;ExcessHet=0.0000;FS=1.064;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.32;ReadPosRankSum=-8.440e-01;SOR=0.956	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1001	20	0	1	0
chr17	67743746	67743746	T	C	exonic	NOL11	.	nonsynonymous SNV	NOL11:NM_001303272:exon17:c.T1501C:p.S501P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.845	P	0.272	B	0.926	N	1.000	N	1.61	L	0.9	T	-1.000	T	0.078	T	0.481	1.321	10.33	-7.62	-1.823	0.610	11.259	0.219	0.0186458765851	.	0.000199681	0.0003	0	0	0.0002	0	0	0	0.0027	0.0002264	35	154602	rs565913198	0.0001	0.0002	5.965e-05	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	0	0	0	0	0	0	9.687e-07	7.267e-05	0.0024	3.938e-05	3.937e-05	0	8.052e-05	0.0012	1.714e-05	1.128e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.146	0.25055	T	0.141	0.33442	T	0.845	0.46707	P	0.272	0.39956	B	0.926241	0.08452	N	0.971354	0.999999	0.08975	N	0.69	0.16971	N	0.9	0.45248	T	-1.38	0.34198	N	0.161	0.16864	-0.9999	0.29945	T	0.078	0.31042	T	10	0.006064594	0.00136	T	0.018646	0.40783	T	0.219	0.51417	0.262	0.20631	0.434934176536	0.43114	0.6196948845536999	0.61902	0.368799734887	0.38423	0.363221913576	0.19854	T	0.006983	0.06403	T	-0.462818	0.00944	T	-0.444367	0.28320	T	0.0577184705301578	0.06805	T	0.779622	0.41374	T	0.08569626	0.19890	0.25959608	0.51711	0.08569626	0.19889	0.25959608	0.51710	-6.969	0.53807	T	.	.	0.54	0.66355	A	.	.	2.073690	0.26374	17.09	0.72400538059896624	0.09960	0.55848	0.29967	D	AEFBI	0.191822	0.31901	N	-0.992877240876703	0.08755	0.4117345	-1.12397161660887	0.07244	0.351633	0.0790636876945225	0.15807	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.27	-7.62	0.01154	0.414000	0.20885	1.105000	0.24105	-1.046000	0.01651	0.913000	0.31760	0.999000	0.35428	0.886000	0.42526	0.7538:0.0648:0.0:0.1814	11.259	0.48301	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	1927.08	41	chr17	67743746	.	T	C	1927.08	.	AC=2;AF=0.048;AN=42;DP=830;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=27.93;SOR=0.910	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	20	1	0	0
chr17	67826192	67826192	G	C	exonic	BPTF	.	nonsynonymous SNV	BPTF:NM_004459:exon1:c.G468C:p.Q156H	.	.	206	1314	2	0	0	2	0.000760456	.	.	2808234	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.924	P	0.366	B	.	.	0.975	N	1.15	L	-1.48	T	-0.743	T	0.302	T	0.238	0.444	6.414	0.129	0.297	1.511	5.480	0.171	0.129724170292	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.056e-06	2.052e-06	1.364e-06	2.755e-06	2.321e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	0	1.659e-05	2.321e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.36310	T	0.044	0.69154	D	0.697	0.47667	P	0.135	0.39594	B	.	.	.	.	0.993229	0.25443	N	1.39	0.34934	L	-1.48	0.81150	T	-1.75	0.41428	N	0.338	0.39861	-0.7427	0.58313	T	0.302	0.67325	T	9	0.1795077	0.33088	T	0.129724	0.81181	D	0.171	0.43483	0.167	0.07186	0.58011961724	0.57683	0.042994353903412115	0.04244	1.03551510566	0.75575	0.930211186409	0.98999	D	0.14327	0.47930	T	-0.0469647	0.44908	T	-0.305238	0.44169	T	0.221717849373817	0.21549	T	0.464953	0.35895	T	0.080668345	0.18495	0.08768241	0.20395	0.080668345	0.18495	0.08768241	0.20395	-4.367	0.30322	T	.	.	0.236	0.57174	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.338113	0.45984	22.2	0.68434490763743383	0.08657	0.22753	0.21851	N	ALL	0.046174	0.07639	N	-0.38745424004056	0.25914	1.410399	-0.414869242278276	0.24561	1.345616	0.99999999944075	0.74766	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.273489	0.05413	2	.	.	2.25	0.129	0.14040	1.544000	0.35764	2.500000	0.33024	-0.362000	0.05498	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.2239:0.1677:0.6084:0.0	5.480	0.16012	892	0.26670	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	2273.98	37	chr17	67826192	.	G	C	2273.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.176e+00;DP=917;ExcessHet=0.0000;FS=3.169;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=1.27;SOR=0.916	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1095	20	0	1	0
chr17	67959642	67959642	-	CCTCCAGCCCCTCCAGCCCCTCCAGCC	exonic	BPTF	.	nonframeshift insertion	BPTF:NM_182641:exon24:c.8028_8029insCCTCCAGCCCCTCCAGCCCCTCCAGCC:p.P2684_P2685insAPPAPPAPP	.	.	428	734	271	57	32	417	0.207771	.	.	1264390	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	9.484e-05	0	0	0.0005	0	0.0003	0.0001153	3	26028	.	0.0022	0.0024	0.0023	0.0022	0.0074	0.0022	0.0021	0.0056	0.0049	0.0006	0.0003	0.0030	0	0.0008	0.0074	0.0025	0.0026	0.0008	0.0019	0.0021	0.0020	0.0018	0.0029	0.0017	0.0016	0.0026	0.0024	0.0007	0	0.0018	0.0026	0	0.0006	0.0145	0.0029	0.0025	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	13627.31	45	chr17	67959642	.	T	TCCTCCAGCC,TCCTCCAGCCCCTCCAGCCCCTCCAGCC	13627.31	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=0.749;DP=1382;ExcessHet=0.0874;FS=0.000;InbreedingCoeff=0.2929;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=23.25;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PL	0/0:45,0,0:45:99:0,102,1530,102,1530,1530	14	1	5	0
chr17	67992921	67992921	A	G	exonic	C17orf58	.	stoploss	C17orf58:NM_181656:exon2:c.T226C:p.X76R,	.	.	430	1060	32	0	0	32	0.0148699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	-0.549	1.514	-1.23	-0.300	-0.163	0.473	.	.	0.0068	0.00319489	0.0077	0.0011	0.0056	0	0.0026	0.0118	0.0089	0.0024	0.0075808	1172	154602	rs190313223	0.0086	0.0086	0.0087	0.0086	0.0182	0.0085	0.0085	0.0154	0.0143	0.0011	0.0046	0.0116	2.519e-05	0.0026	0.0182	0.0101	0.0082	0.0021	0.0063	0.0063	0.0066	0.0059	0.0106	0.0059	0.0058	0.0099	0.0097	0.0018	0	0.0042	0.0144	0	0.0020	0.0102	0.0106	0.0057	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.014	0.00160	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.741056	0.00020	T	-0.824928	0.01355	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207906	0.05916	2.358	0.59305894313049745	0.06193	0.02565	0.07104	N	AEFDGBHCI	.	.	.	-0.929955126842265	0.10146	0.4834939	-1.13365104741547	0.07065	0.3422861	0.999998403543863	0.74766	0.08998	0.02334	0	0.090139	0.02499	0	0.054209	0.00285	2	0.143876	0.04018	0	0.116346	0.24258	2.72	-1.23	0.08977	-0.321000	0.08060	-0.793000	0.07406	-0.212000	0.08331	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.4314:0.2196:0.1354:0.2136	0.473	0.00499	909	0.22467	.	.	.	C17orf58	Heart_Atrial_Appendage	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2614.11	34	chr17	67992921	.	A	G	2614.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.719e+00;DP=872;ExcessHet=0.1072;FS=2.375;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=0.092;SOR=0.523	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1143	19	0	2	0
chr17	68271583	68271583	T	C	exonic	SLC16A6	.	nonsynonymous SNV	SLC16A6:NM_004694:exon5:c.A577G:p.I193V	.	.	433	1082	7	0	0	7	0.00322432	.	.	2331855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.46	T	0.011	B	0.03	B	0.001	N	1.000	D	1.3	L	0.48	T	-1.073	T	0.100	T	0.204	1.015	9.147	2.02	0.183	3.157	6.544	0.068	0.00782871296653	0.0003	0.000399361	0.0004	0.0002	0.0003	0	0	0.0005	0.0033	0.0002	0.0003752	58	154602	rs144470811	0.0003	0.0003	0.0003	0.0004	0.0097	0.0003	0.0003	0.0077	0.0069	0.0004	0.0006	0.0037	0	1.872e-05	0.0097	0.0002	0.0006	0.0005	0.0004	0.0004	0.0003	0.0005	0.0011	0.0003	0.0003	0.0007	0.0006	0.0002	0	0.0011	0.0026	0	0	0.0102	0.0003	0.0009	0.0002	0.443	0.09182	T	0.44	0.13912	T	0.011	0.15914	B	0.03	0.21741	B	0.001449	0.38980	N	0.249425	1	0.81001	D	1.64	0.41913	L	0.48	0.55945	T	-0.39	0.13611	N	0.162	0.23380	-1.0731	0.08745	T	0.100	0.37137	T	10	0.013323337	0.00283	T	0.007829	0.20773	T	0.068	0.19811	.	.	0.318828661733	0.31499	0.21961182318223102	0.21877	0.409640644394	0.41775	0.362998306751	0.19822	T	0.07893	0.36007	T	-0.400896	0.02284	T	-0.459602	0.26643	T	0.00784043668749551	0.00092	T	0.691431	0.30091	T	0.059705667	0.12165	0.06626017	0.13548	0.059705667	0.12164	0.06626017	0.13547	-3.793	0.20700	T	.	.	0.083	0.17189	B	.;.;.	.;.;.	1.521896	0.19539	14.31	0.91046540843169699	0.20298	0.93915	0.59560	D	AEFBI	0.381117	0.46350	N	-0.501761219732488	0.22022	1.173049	-0.418705535787528	0.24447	1.338828	4.79146737857058E-5	0.03989	0.562547	0.31514	0	0.653731	0.59785	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	4.33	2.02	0.25641	2.551000	0.45481	3.742000	0.39654	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.529000	0.29684	0.0:0.0852:0.164:0.7508	6.544	0.21594	885	0.28214	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2131.98	43	chr17	68271583	.	T	C	2131.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.180e+00;DP=933;ExcessHet=0.0000;FS=0.580;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.95;MQRankSum=0.00;QD=13.32;ReadPosRankSum=1.45;SOR=0.635	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	20	0	1	0
chr17	68542082	68542082	C	T	exonic	FAM20A	.	nonsynonymous SNV	FAM20A:NM_017565:exon7:c.G1012A:p.G338S	Amelogenesis imperfecta, type IG (enamel-renal syndrome), Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	1502093	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	N	1.000	D	3.165	M	.	.	0.324	D	0.563	D	0.827	5.233	33	5.01	1.531	7.487	14.953	0.663	0.297249413801	0.0006	0.000599042	0.0004	9.612e-05	0.0003	0	0	0.0007	0.0011	0	0.0004398	68	154602	rs35871101	0.0006	0.0006	0.0006	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	8.961e-05	0.0003	0	0	0	0.0007	0.0008	0.0008	3.478e-05	0.0004	0.0004	0.0005	0.0004	0.0008	0.0004	0.0003	0.0006	0.0006	4.815e-05	0	0.0006	0	0	0	0	0.0008	0.0005	0	.	.	.	0.013	0.63109	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	N	0.042473	1	0.81001	D	3.44	0.92123	M	-1.45	0.80899	T	.	.	.	0.94	0.94668	0.324	0.87930	D	0.563	0.84119	D	9	0.7207696	0.73647	D	0.297249	0.90764	D	.	.	.	.	0.935586001414	0.93491	0.9576704290142696	0.95752	0.664246571213	0.59062	0.753858268261	0.75016	T	0.806324	0.95113	D	0.0276871	0.55414	T	0.226461	0.84499	D	0.398717820644379	0.28894	T	0.954605	0.82717	D	0.8610636	0.88167	0.64598066	0.79301	0.8610636	0.88169	0.64598066	0.79302	-12.585	0.87583	D	.	.	0.814	0.77921	P	.	.	5.134537	0.85943	28.8	0.99859989972013097	0.93820	0.94639	0.61825	D	AEFDBHCI	0.956753	0.97551	D	0.856112899506326	0.89455	9.978276	0.794295820265208	0.89393	9.956783	0.999999999424936	0.74766	0.634777	0.41761	0	0.572659	0.20510	0	0.643519	0.47002	0	0.664235	0.64389	0	.	.	5.98	5.01	0.66477	7.568000	0.81546	7.691000	0.65788	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.9319:0.0:0.0681	14.953	0.70741	942	0.12992	FAM20, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2310.98	34	chr17	68542082	.	C	T	2310.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.432;DP=857;ExcessHet=0.0000;FS=2.172;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.12;ReadPosRankSum=-1.637e+00;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1150	20	0	1	0
chr17	68882675	68882675	G	T	exonic	ABCA8	.	nonsynonymous SNV	ABCA8:NM_001375771:exon28:c.C3569A:p.P1190Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.996	D	0.95	D	0.019	N	1.000	N	3.22	M	-2.17	D	0.047	D	0.765	D	0.331	2.516	14.37	1.63	0.310	1.067	7.593	0.271	0.0167553787602	.	.	2.474e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs776375703	1.096e-05	1.231e-05	4.089e-06	1.789e-05	0.0002	6.49e-06	5.25e-06	9.804e-05	7.848e-05	0	0	0	0	0	0	0	3.314e-05	0.0002	1.973e-05	1.97e-05	1.286e-05	2.692e-05	0.0006	5.24e-06	2.46e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	0	0	0.0006	0.002	0.72154	D	0.054	0.47097	T	0.988	0.62325	D	0.897	0.63631	P	0.019449	0.27255	N	0.257136	1	0.08975	N	3.045	0.86684	M	-2.17	0.86722	D	-6.84	0.93060	D	0.309	0.40264	0.047	0.83180	D	0.765	0.92016	D	10	0.18964067	0.34572	T	0.016755	0.38167	T	0.271	0.58633	0.263	0.20788	0.796394941066	0.79449	0.2723698818332321	0.27149	0.345885374669	0.36490	0.29214566946	0.09236	T	0.23257	0.66759	T	-0.130929	0.31346	T	-0.166168	0.57792	T	0.843615055084229	0.49625	D	0.836316	0.80515	T	0.25884196	0.48935	0.31430906	0.57424	0.25884196	0.48935	0.31430906	0.57423	.	.	.	.	.	0.166	0.39949	B	.;.;.	.;.;.	2.957611	0.39377	20.9	0.98567884577826348	0.43063	0.12444	0.17272	N	AEFBI	0.205166	0.33154	N	0.0181557672964593	0.42680	2.576223	-0.203411506502518	0.31413	1.777561	2.31506511512514E-6	0.01202	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	4.73	1.63	0.22882	1.253000	0.32488	5.055000	0.47034	0.618000	0.50648	0.098000	0.22752	1.000000	0.68203	0.982000	0.59238	0.3459:0.0:0.6541:0.0	7.593	0.27198	981	0.03995	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2017.98	35	chr17	68882675	.	G	T	2017.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.082;DP=846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.69;ReadPosRankSum=-3.350e-01;SOR=0.680	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1176	20	0	1	0
chr17	68903472	68903472	G	A	exonic	ABCA8	.	nonsynonymous SNV	ABCA8:NM_001375771:exon18:c.C2243T:p.A748V	.	.	437	1049	35	1	0	37	0.0173302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.003	B	0.005	B	0.441	N	1.000	N	0.84	L	-0.97	T	-1.002	T	0.193	T	0.028	1.003	9.097	-4.32	-0.846	-0.967	3.460	0.052	.	0.0003	0.00199681	0.0017	0	0	0	0	0.0004	0.0044	0.0107	0.0014683	227	154602	rs184161214	0.0010	0.0010	0.0007	0.0014	0.0115	0.0010	0.0010	0.0109	0.0107	2.987e-05	0.0005	0.0002	0	0	0.0066	0.0003	0.0016	0.0115	0.0008	0.0008	0.0006	0.0010	0.0148	0.0007	0.0006	0.0120	0.0110	4.822e-05	0	0.0003	0.0003	0.0002	0	0	0.0005	0.0014	0.0148	0.568	0.06381	T	0.491	0.14412	T	0.002	0.09854	B	0.002	0.06944	B	0.440630	0.04758	N	1.409270	1	0.08975	N	0.695	0.17993	N	-0.97	0.75670	T	0.58	0.03041	N	0.069	0.04188	-1.0025	0.29197	T	0.193	0.54667	T	10	0.0037364364	0.00069	T	.	.	.	0.052	0.14661	.	.	0.469578130381	0.46583	0.14823423802511468	0.14745	0.0573251470501	0.06345	0.262227773666	0.05158	T	0.037209	0.37060	T	-0.61317	0.00121	T	-0.644158	0.09368	T	0.00532305861954774	0.00058	T	0.275172	0.06971	T	0.019498836	0.00482	0.031217244	0.01680	0.019498836	0.00482	0.031217244	0.01680	.	.	.	.	.	0.067	0.03266	B	.;.;.	.;.;.	-0.368211	0.02333	0.251	0.70904960446772303	0.09450	0.05502	0.11389	N	AEFBHCI	0.136810	0.25760	N	-1.48736639363359	0.01938	0.08510498	-1.53869890657539	0.02055	0.09393695	9.66251316486085E-5	0.04910	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.43	-4.32	0.03433	-0.756000	0.04882	-6.269000	0.01447	-0.546000	0.04920	0.000000	0.06391	0.000000	0.08366	0.103000	0.18424	0.1687:0.2995:0.4231:0.1087	3.460	0.07097	964	0.07719	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	5514.92	34	chr17	68903472	.	G	A	5514.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-6.740e-01;DP=1042;ExcessHet=0.6776;FS=0.547;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=12.48;ReadPosRankSum=0.198;SOR=0.762	GT:AD:DP:GQ:PL	0/1:40,62:102:99:1513,0,1013	17	0	4	0
chr17	68922240	68922240	A	C	splicing	ABCA8	NM_001288986:exon11:c.1501+2T>G;NM_001288985:exon12:c.1501+2T>G;NM_007168:exon11:c.1501+2T>G;NM_001375771:exon10:c.1318+2T>G	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.706	18.82	4.74	2.118	5.525	13.477	.	.	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs758629937	4.091e-05	0.0001	3.398e-05	4.736e-05	6.589e-05	2.166e-05	1.606e-05	1.86e-05	1.267e-05	0	0	0	0	5.567e-05	0	3.998e-05	0.0001	6.589e-05	0	4.676e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326414	0.84920	D	0.231095	0.84723	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.440514	0.68943	25.3	0.99315235073916608	0.59166	0.97762	0.76948	D	AEFI	.	.	.	1.02131379195499	0.96363	14.605	0.850026452231692	0.93017	11.77288	0.173703788940825	0.17773	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.062806	0.01542	0	0.967652	0.70199	4.74	4.74	0.59717	4.616000	0.60900	11.086000	0.85840	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.645000	0.32557	1.0:0.0:0.0:0.0	13.477	0.60770	932	0.16191	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	100.51	64	chr17	68922240	.	A	C	100.51	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-1.719e+00;DP=763;ExcessHet=0.0000;FS=10.681;InbreedingCoeff=0.0413;MLEAC=1;MLEAF=0.033;MQ=60.00;MQRankSum=0.00;QD=2.14;ReadPosRankSum=1.23;SOR=3.126	GT:AD:DP:GQ:PL	./.:39,0:39:0:0,0,876	14	0	1	6
chr17	68984096	68984096	C	T	exonic	ABCA9	.	nonsynonymous SNV	ABCA9:NM_080283:exon35:c.G4459A:p.V1487M,	.	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.995	D	0.916	D	0.001	N	1.000	D	1.005	L	-4.62	D	0.890	D	0.896	D	0.543	3.865	19.64	3.88	1.149	1.064	8.410	0.663	0.160241492565	7.7e-05	.	0.0002	0	8.639e-05	0.0001	0	1.499e-05	0.0011	0.0010	0.0001358	21	154602	rs372324484	6.977e-05	6.977e-05	4.084e-05	9.9e-05	0.0009	5.846e-05	5.457e-05	0.0007	0.0007	0	0	0	2.519e-05	0	0.0003	1.619e-05	4.967e-05	0.0009	1.314e-05	1.313e-05	0	2.69e-05	0.0004	2.18e-06	8.2e-07	7.29e-05	3.029e-05	0	0	0	0	0	0	0	0	0	0.0004	0.001	0.78490	D	0.007	0.69154	D	0.995	0.67487	D	0.916	0.65201	D	0.001120	0.40219	N	0.000000	0.990452	0.81001	D	1.005	0.25186	L	-4.62	0.97884	D	-1.8	0.42384	N	0.651	0.66187	0.890	0.95534	D	0.896	0.96542	D	10	0.5466648	0.64022	D	0.160241	0.84028	D	0.663	0.87430	.	.	0.933465771672	0.93277	0.2401202949436094	0.23926	0.339899624421	0.35937	0.577979385853	0.49802	T	0.151801	0.49191	T	-0.106909	0.35280	T	0.0232159	0.71838	D	0.274705678224564	0.23947	T	0.837116	0.68863	T	0.12398329	0.29101	0.21077189	0.45479	0.12398329	0.29100	0.21077189	0.45478	-8.359	0.63491	D	.	.	0.174	0.44201	B	.;.	.;.	2.854856	0.37700	20.6	0.99882762512363921	0.95892	0.73462	0.35934	D	AEFBI	0.317893	0.42176	N	0.198001230188767	0.51102	3.294264	0.14582322095459	0.46921	2.930355	0.065166603884202	0.15352	0.553676	0.25195	0	0.588015	0.36545	0	0.573078	0.19857	0	0.491896	0.07777	0	.	.	4.86	3.88	0.43959	0.439000	0.21293	-0.845000	0.07201	0.599000	0.40250	0.039000	0.20931	0.000000	0.08366	0.282000	0.24066	0.0:0.7607:0.1565:0.0828	8.410	0.31797	956	0.09877	ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2262.98	33	chr17	68984096	.	C	T	2262.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.276e+00;DP=858;ExcessHet=0.0000;FS=6.983;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.32;ReadPosRankSum=1.25;SOR=0.886	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr17	69088219	69088219	A	C	exonic	ABCA6	.	nonsynonymous SNV	ABCA6:NM_080284:exon28:c.T3646G:p.C1216G,	.	.	454	1045	18	5	0	28	0.01322	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.967	D	0.756	P	0.008	N	1.000	D	2.72	M	-2.09	D	0.577	D	0.736	D	0.586	3.411	17.52	4.68	2.099	4.418	13.379	0.555	0.0492893968447	0.0005	0.000199681	0.0005	0	8.864e-05	0	0	0.0006	0.0023	0.0010	0.000401	62	154602	rs201339605	0.0003	0.0003	0.0003	0.0004	0.0026	0.0003	0.0003	0.0016	0.0013	2.992e-05	0.0006	7.662e-05	0	1.877e-05	0.0026	0.0003	0.0006	0.0015	0.0003	0.0003	0.0004	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	0	0	0.0001	0	0	0	0.0034	0.0006	0.0005	0.0004	0.055	0.38407	T	0.069	0.43913	T	0.967	0.56408	D	0.756	0.56253	P	0.007964	0.31093	N	0.146929	0.806409	0.34580	D	3.2	0.89116	M	-2.09	0.86077	D	-10.79	0.99198	D	0.607	0.62442	0.577	0.91600	D	0.736	0.90983	D	10	0.39042228	0.54851	T	0.049289	0.63745	D	0.555	0.81659	.	.	0.944523883228	0.94394	0.18814485795219263	0.18732	0.203604991525	0.22774	0.405933737755	0.25894	T	0.293799	0.66649	T	-0.15892	0.26926	T	-0.0466053	0.67254	D	0.216425599304568	0.21284	T	0.648535	0.25952	T	0.6130245	0.73390	0.6582248	0.79982	0.6130245	0.73391	0.6582248	0.79983	-7.453	0.57279	T	.	.	0.134	0.29172	B	.	.	3.895185	0.56705	23.8	0.97975398609407505	0.37283	0.95832	0.66344	D	AEFBI	0.846047	0.76294	D	0.506882642008772	0.67496	5.089388	0.441852167366404	0.64196	4.669193	0.936456131649171	0.27255	0.706298	0.61202	0	0.708844	0.79440	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.68	4.68	0.58319	5.136000	0.64623	5.233000	0.48037	0.756000	0.94297	0.506000	0.27002	0.998000	0.33993	0.998000	0.85391	1.0:0.0:0.0:0.0	13.379	0.60203	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1670.98	35	chr17	69088219	.	A	C	1670.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.950e-01;DP=866;ExcessHet=0.0000;FS=2.691;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.83;ReadPosRankSum=0.389;SOR=0.512	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1186	20	0	1	0
chr17	69129626	69129626	A	T	exonic	ABCA6	.	stopgain	ABCA6:NM_080284:exon7:c.T917A:p.L306X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.001	D	1.000	D	.	.	.	.	.	.	.	.	.	7.652	39	5.6	2.258	2.986	12.461	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs945218615	6.296e-06	6.167e-06	8.361e-06	4.215e-06	3.125e-05	2.96e-06	2.15e-06	2.66e-06	1.71e-06	3.125e-05	0	0	2.553e-05	0	0	6.404e-06	0	0	1.975e-05	1.971e-05	2.574e-05	1.347e-05	0.0002	5.25e-06	2.46e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.942e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000819	0.41658	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.166	0.17553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595077	0.97509	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.612250	0.96691	36	0.99092801742143088	0.52272	0.87996	0.47736	D	AEDBI	0.080699	0.16319	N	0.793459149338064	0.85696	8.653347	0.677309046186258	0.80661	7.348281	0.374044326672459	0.19898	0.651	0.46895	0	0.588015	0.36545	0	0.573888	0.23631	0	0.683762	0.67416	0	.	.	5.6	5.6	0.84997	3.285000	0.51421	6.729000	0.56452	0.756000	0.94297	0.995000	0.38783	0.897000	0.27914	0.997000	0.79791	1.0:0.0:0.0:0.0	12.461	0.55071	924	0.18029	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1047.98	35	chr17	69129626	.	A	T	1047.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.767;DP=785;ExcessHet=0.0000;FS=0.754;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=0.861;SOR=0.829	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1144	20	0	1	0
chr17	69164965	69164965	T	A	exonic	ABCA10	.	nonsynonymous SNV	ABCA10:NM_001377321:exon26:c.A3281T:p.Q1094L	.	.	436	1083	2	1	0	4	0.00184332	0.0352	0.332	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.131	B	0.063	B	0.002	N	0.993	N	0.55	N	-2.03	D	-0.612	T	0.404	T	0.194	0.623	7.351	1.94	0.350	0.983	5.280	0.178	0.0112060404554	.	.	1.651e-05	0	0	0	0	3.003e-05	0	0	1.29e-05	2	154602	rs755935185	1.232e-05	1.231e-05	1.362e-05	1.101e-05	0.0003	7.7e-06	6.36e-06	6.098e-05	2.523e-05	0	2.238e-05	0	0	0	0.0003	1.08e-05	3.315e-05	1.161e-05	6.573e-06	6.567e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.161	0.23631	T	0.317	0.19304	T	0.131	0.27154	B	0.063	0.27082	B	0.001816	0.00828	N	9.250970	0.992877	0.41768	D	0.55	0.14455	N	-2.03	0.85613	D	-2.13	0.48354	N	0.182	0.19728	-0.6118	0.64329	T	0.404	0.75423	T	10	0.29355267	0.46929	T	0.011206	0.28600	T	0.178	0.44724	0.441	0.49648	0.593198995047	0.58997	0.6738939442509415	0.67327	0.0288828046489	0.02972	0.281808674335	0.07746	T	0.127956	0.45531	T	-0.153199	0.27813	T	-0.350179	0.39184	T	0.0552830156358203	0.06405	T	0.265773	0.04346	T	0.11086911	0.26204	0.095200926	0.22567	0.11086911	0.26204	0.095200926	0.22566	-3.555	0.17211	T	.	.	0.244	0.47880	B	.	.	1.076872	0.14596	11.16	0.65741898466583726	0.07859	0.08443	0.14371	N	AEFI	0.048080	0.08168	N	-0.869425914571707	0.11574	0.5593356	-0.901216863183741	0.12065	0.6184877	3.04871661435515E-6	0.01202	0.553676	0.25195	0	0.588066	0.40923	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.09	1.94	0.25058	0.426000	0.21081	0.572000	0.19617	0.568000	0.28809	0.014000	0.18986	0.665000	0.26036	0.060000	0.15972	0.2559:0.0:0.0:0.7441	5.280	0.14982	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1130.98	33	chr17	69164965	.	T	A	1130.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.240e-01;DP=772;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.08;ReadPosRankSum=0.530;SOR=0.660	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	20	0	1	0
chr17	69194391	69194391	T	G	exonic	ABCA10	.	nonsynonymous SNV	ABCA10:NM_001377321:exon12:c.A1339C:p.T447P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.134	U	0.773	D	3.115	M	-3.44	D	0.986	D	0.905	D	0.506	3.427	17.59	-0.080	-0.265	-0.468	10.925	0.526	0.0706512358573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.991	0.79672	D	0.134411	0.18517	U	0.279124	1	0.08975	N	2.905	0.84014	M	-3.44	0.94428	D	-5.19	0.83625	D	0.316	0.35620	0.986	0.96957	D	0.905	0.96836	D	10	0.6209373	0.67973	D	0.070651	0.71060	D	0.526	0.79947	0.631	0.76699	0.699037688466	0.69643	0.5532918652599023	0.55255	0.243943641455	0.26902	0.252976089716	0.04087	T	0.533151	0.83880	D	0.135842	0.67927	D	-0.0426483	0.67523	D	0.895191133022308	0.54670	D	0.914809	0.69637	D	0.6011463	0.72753	0.5017864	0.71199	0.6011463	0.72754	0.5017864	0.71199	-11.463	0.82137	D	.	.	0.239	0.47261	B	.	.	1.737620	0.22111	15.49	0.99165558929957254	0.54241	0.13345	0.17803	N	AEFBIJ	0.286709	0.39903	N	-0.111038399058478	0.36910	2.140095	-0.406183954240203	0.24816	1.361035	7.03656766406363E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	3.8	-0.0796	0.13044	-0.113000	0.10745	-5.355000	0.01750	0.587000	0.30956	0.003000	0.16062	0.000000	0.08366	0.207000	0.22098	0.7412:0.0:0.0:0.2588	10.925	0.46398	910	0.22284	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	217.3	33	chr17	69194391	.	T	G	217.3	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-4.822e+00;DP=1966;ExcessHet=1.7912;FS=271.712;InbreedingCoeff=-0.1603;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.25;ReadPosRankSum=0.097;SOR=11.722	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1359	15	0	6	0
chr17	69301282	69301282	A	G	exonic	ABCA5	.	nonsynonymous SNV	ABCA5:NM_018672:exon8:c.T1124C:p.M375T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.936	P	0.652	P	0.000	N	0.999	D	0.915	L	1.48	T	-1.107	T	0.083	T	0.45	2.321	13.72	4.93	1.980	7.605	14.936	0.173	0.0202168449393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.24183	T	0.318	0.19246	T	0.936	0.52359	P	0.652	0.52532	P	0.000077	0.52346	N	0.082858	0.999333	0.46701	D	1.175	0.29870	L	1.48	0.31731	T	-1.48	0.36189	N	0.713	0.72299	-1.1074	0.03302	T	0.083	0.32614	T	9	0.37948006	0.54085	T	0.020217	0.42769	T	0.173	0.43840	0.431	0.48007	0.81020416286	0.80842	0.697767657475153	0.69717	0.238078467474	0.26356	0.666366755962	0.62320	T	0.198301	0.68120	T	-0.0698179	0.41355	T	-0.338065	0.40563	T	0.936165571212769	0.60495	D	0.887611	0.61581	D	0.22534423	0.45194	0.23230419	0.48387	0.22534423	0.45194	0.23230419	0.48386	-4.339	0.28720	T	.	.	0.622	0.69775	P	.;.;.	.;.;.	4.200985	0.63389	24.6	0.94401167180468748	0.24790	0.97205	0.73310	D	AEFBI	0.875163	0.79842	D	0.341465346896758	0.58291	4.000429	0.409680266131998	0.62166	4.427694	0.995908107525902	0.34398	0.732398	0.92422	0	0.743671	0.97443	0	0.573888	0.23631	0	0.683762	0.67416	0	.	.	4.93	4.93	0.64394	7.574000	0.81754	11.174000	0.88071	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	1.0:0.0:0.0:0.0	14.936	0.70602	978	0.04198	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	527.98	33	chr17	69301282	.	A	G	527.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.670e-01;DP=699;ExcessHet=0.0000;FS=5.087;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.20;ReadPosRankSum=1.29;SOR=0.124	GT:AD:DP:GQ:PL	0/0:23,0:23:63:0,63,945	20	0	1	0
chr17	69306944	69306944	T	C	exonic	ABCA5	.	nonsynonymous SNV	ABCA5:NM_018672:exon5:c.A569G:p.N190S	.	.	441	1071	10	0	0	10	0.00464684	.	.	971089	Gingival_fibromatosis-hypertrichosis_syndrome	MONDO:MONDO:0007610,MedGen:C1851120,OMIM:135400,Orphanet:2026	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.991	D	0.932	D	0.009	N	0.989	D	2.86	M	-2.23	D	0.768	D	0.794	D	0.061	3.916	19.92	5.22	1.948	3.952	15.107	0.463	0.0667926131942	0.0010	0.000199681	0.0006	0.0003	0.0004	0.0001	0.0002	0.0008	0.0022	0.0004	0.0006209	96	154602	rs139696278	0.0010	0.0010	0.0009	0.0010	0.0092	0.0009	0.0009	0.0072	0.0065	0.0010	0.0006	0.0035	5.41e-05	1.952e-05	0.0092	0.0010	0.0013	0.0004	0.0008	0.0008	0.0008	0.0007	0.0009	0.0006	0.0006	0.0007	0.0007	0.0007	0	0.0002	0.0035	0.0004	9.43e-05	0.0102	0.0009	0.0014	0.0002	0.003	0.68238	D	0.031	0.53788	D	0.991	0.64070	D	0.932	0.66722	D	0.009140	0.30503	N	0.275860	0.989334	0.40932	D	2.91	0.84121	M	-2.23	0.87116	D	-4.32	0.76655	D	0.286	0.44952	0.768	0.94011	D	0.794	0.93032	D	9	0.121088594	0.22948	T	0.066793	0.69979	D	0.463	0.75956	.	.	0.948350954613	0.94780	0.409673485192406	0.40883	0.290506961512	0.31456	0.414972186089	0.27145	T	0.466385	0.84767	T	-0.327766	0.06283	T	-0.284123	0.46381	T	0.0583625470161074	0.06908	T	0.931907	0.74605	D	0.44946644	0.64007	0.48845968	0.70399	0.44946644	0.64008	0.48845968	0.70400	-8.358	0.63485	D	.	.	0.092	0.13783	B	.;.;.	.;.;.	3.876731	0.56323	23.7	0.99888516142203843	0.96281	0.96007	0.67112	D	AEFBI	0.556772	0.56667	D	0.652844709627384	0.76553	6.507811	0.606795483393868	0.75430	6.309534	0.0859597177483523	0.15996	0.732398	0.92422	0	0.743671	0.97443	0	0.618467	0.43123	0	0.683762	0.67416	0	.	.	5.22	5.22	0.72285	4.150000	0.57871	4.999000	0.46583	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.107	0.72000	977	0.04225	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2031.98	33	chr17	69306944	.	T	C	2031.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.674e+00;DP=862;ExcessHet=0.0000;FS=7.600;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=1.02;SOR=0.319	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	20	0	1	0
chr17	70132766	70132766	A	G	exonic	KCNJ16	.	nonsynonymous SNV	KCNJ16:NM_001291623:exon3:c.A679G:p.S227G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	B	0.001	B	0.016	N	1.000	N	0.295	N	-3.35	D	-0.570	T	0.509	D	0.034	-0.904	0.431	1.22	-0.073	0.979	6.067	0.111	0.0364138397736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.341	0.12673	T	0.421	0.14725	T	0.0	0.02946	B	0.0	0.01387	B	0.016498	0.27965	N	0.414207	0.999999	0.08975	N	0.515	0.13537	N	-3.35	0.94022	D	-0.03	0.07444	N	0.056	0.02759	-0.5704	0.65999	T	0.509	0.81522	D	9	0.06922683	0.09902	T	0.036414	0.56977	D	0.111	0.31313	0.309	0.28128	0.367229591828	0.36328	0.2527376885368229	0.25187	0.0672008464947	0.07511	0.31351774931	0.12438	T	0.358479	0.72503	T	-0.15163	0.28057	T	-0.455583	0.27082	T	0.501608490943909	0.32688	D	0.611639	0.23235	T	0.05430032	0.10398	0.043030396	0.05262	0.05430032	0.10398	0.043030396	0.05262	-4.862	0.35305	T	.	.	0.062	0.01367	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.044814	0.14254	10.83	0.72106430669165966	0.09858	0.10394	0.15913	N	AEFBI	0.177306	0.30454	N	-1.09091531944652	0.06809	0.3145416	-1.04823330831767	0.08744	0.4314039	0.0685673000739364	0.15462	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.84	1.22	0.20300	0.989000	0.29229	1.881000	0.29453	-0.050000	0.17177	0.104000	0.22875	0.294000	0.24182	0.003000	0.05239	0.6284:0.1231:0.2485:0.0	6.067	0.19091	884	0.28482	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1676.98	39	chr17	70132766	.	A	G	1676.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.640e+00;DP=973;ExcessHet=0.0000;FS=4.738;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=-6.500e-02;SOR=0.811	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1620	20	0	1	0
chr17	72124022	72124022	C	A	exonic	SOX9	.	nonsynonymous SNV	SOX9:NM_000346:exon3:c.C1165A:p.P389T,	Acampomelic campomelic dysplasia, Autosomal dominant;Campomelic dysplasia, Autosomal dominant;Campomelic dysplasia with autosomal sex reversal, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1328877	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.47	T	0.361	B	0.034	B	0.016	U	1.000	D	0.345	N	-1.07	T	-0.758	T	0.217	T	0.125	2.738	15.11	4.18	1.870	1.512	16.108	0.138	0.0870135506429	.	.	3.46e-05	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs753584114	1.786e-05	2.052e-05	1.093e-05	2.488e-05	0.0003	1.243e-05	1.056e-05	0.0002	0.0002	0	0	0	0	0	0	0	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.17069	T	0.318	0.19246	T	0.361	0.33905	B	0.034	0.22546	B	0.015566	0.28211	U	0.334519	0.999785	0.49076	D	2.015	0.55033	M	-1.07	0.76948	T	-1.76	0.41618	N	0.035	0.01004	-0.7585	0.57487	T	0.217	0.57928	T	10	0.12680069	0.24110	T	0.087014	0.74851	D	0.138	0.37187	0.176	0.08257	0.588800658163	0.58555	0.2300194752723587	0.22916	1.02818934709	0.75339	0.824259519577	0.85681	D	0.514728	0.82914	D	-0.332174	0.05949	T	-0.390978	0.34438	T	0.109951011836529	0.13418	T	0.782722	0.41876	T	0.25632077	0.48670	0.1608238	0.37440	0.25632077	0.48670	0.1608238	0.37439	-4.689	0.33270	T	0.21170665445218886	0.28391	0.073	0.04764	B	.;.	.;.	2.457989	0.31662	18.81	0.98938200706727808	0.48883	0.67125	0.33320	D	AEFDGBHCI	0.387455	0.46743	N	-0.389616575337592	0.25838	1.40561	-0.269054394373061	0.29123	1.629192	0.999999999999998	0.74766	0.685219	0.55550	0	0.672317	0.65289	0	0.674405	0.61402	0	0.63947	0.58350	0	.	.	4.18	4.18	0.48473	1.565000	0.35993	3.856000	0.40113	0.524000	0.24156	0.639000	0.28076	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	16.108	0.81046	963	0.08280	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	985.98	34	chr17	72124022	.	C	A	985.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=792;ExcessHet=0.0000;FS=3.297;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=0.935;SOR=1.136	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr17	72649203	72649203	C	T	exonic	SLC39A11	.	nonsynonymous SNV	SLC39A11:NM_001159770:exon8:c.G758A:p.R253Q	.	.	436	1064	20	2	0	24	0.0111524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.903	P	0.234	B	0.000	D	1.000	D	2.535	M	0.82	T	-0.780	T	0.119	T	0.897	3.502	17.90	5.05	2.504	5.267	18.377	0.265	0.0162805234454	0.0056	0.00279553	0.0054	0.0007	0.0017	0.0001	0.0015	0.0074	0.0068	0.0073	0.0054462	842	154602	rs150096159	0.0077	0.0077	0.0077	0.0077	0.0089	0.0076	0.0075	0.0087	0.0087	0.0007	0.0026	0.0008	2.519e-05	0.0021	0.0028	0.0089	0.0073	0.0077	0.0055	0.0055	0.0061	0.0049	0.0086	0.0052	0.0051	0.0080	0.0078	0.0014	0.0789	0.0038	0.0006	0	0.0024	0.0068	0.0086	0.0047	0.0064	0.155	0.24183	T	0.096	0.39340	T	0.882	0.49795	P	0.209	0.38393	B	0.000002	0.62929	D	0.000000	1	0.81001	D	2.925	0.84406	M	0.82	0.48142	T	-1.35	0.34596	N	0.923	0.92667	-0.7797	0.56320	T	0.119	0.41648	T	10	0.008786321	0.00199	T	0.016281	0.37459	T	0.265	0.57870	.	.	0.456919554969	0.45315	0.8221848913959761	0.82175	0.300736836408	0.32425	0.691533386707	0.65927	T	0.011385	0.10166	T	-0.0934844	0.37499	T	0.100331	0.76931	D	0.0356843433398387	0.02925	T	.	.	.	0.228622	0.45585	0.16280235	0.37798	0.228622	0.45585	0.16280235	0.37798	-7.955	0.61186	D	.	.	0.118	0.38569	B	.;.;.	.;.;.	3.655406	0.51903	23.2	0.99150535434693465	0.53793	0.97463	0.74912	D	AEFDI	0.712331	0.66549	D	0.486916796063196	0.66324	4.935602	0.519114463322022	0.69278	5.337484	0.999999896759896	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.05	5.05	0.67566	7.089000	0.76571	5.892000	0.50774	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.940000	0.48062	0.0:1.0:0.0:0.0	18.377	0.90380	905	0.23532	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	941.98	76	chr17	72649203	.	C	T	941.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.14;DP=804;ExcessHet=0.0000;FS=1.872;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=0.728;SOR=0.941	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1170	20	0	1	0
chr17	73031671	73031671	A	G	exonic	SLC39A11	.	nonsynonymous SNV	SLC39A11:NM_001159770:exon4:c.T191C:p.V64A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.486	P	0.393	B	0.000	D	0.677	N	0.595	N	0.81	T	-0.838	T	0.114	T	0.46	3.210	16.75	5.09	1.923	8.105	13.711	0.277	0.0168911994942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.486	0.36871	P	0.199	0.44248	B	0.000078	0.52346	D	0.124635	0.676821	0.30314	N	1.165	0.29723	L	0.81	0.48460	T	-3.44	0.67477	D	0.439	0.47765	-0.8377	0.52799	T	0.114	0.40490	T	10	0.67173934	0.70754	D	0.016891	0.38356	T	0.277	0.59375	0.694	0.83126	0.561065777782	0.55768	0.5889777521501887	0.58827	0.32761299125	0.34895	0.580468416214	0.50151	T	0.073142	0.49054	T	-0.0280985	0.47693	T	-0.278138	0.46995	T	0.983349561691284	0.75046	D	.	.	.	0.5190309	0.68204	0.5556512	0.74299	0.5190309	0.68205	0.5556512	0.74300	-9.729	0.72273	D	.	.	0.366	0.57610	A	.;.;.;.;.	.;.;.;.;.	3.883755	0.56469	23.7	0.99620490023098618	0.75413	0.88014	0.47761	D	AEFDGBCI	0.842565	0.75967	D	0.0424657913717879	0.43796	2.665642	0.119880068768173	0.45566	2.817561	0.999999853601774	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.09	5.09	0.68647	8.345000	0.89961	11.119000	0.86504	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	0.845000	0.39915	1.0:0.0:0.0:0.0	13.711	0.62150	653	0.62661	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2057.98	164	chr17	73031671	.	A	G	2057.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.060e+00;DP=1042;ExcessHet=0.0000;FS=1.979;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=-1.120e+00;SOR=0.523	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1251	20	0	1	0
chr17	73201862	73201862	G	A	exonic	COG1	.	nonsynonymous SNV	COG1:NM_018714:exon7:c.G2035A:p.V679M,	Congenital disorder of glycosylation, type IIg	.	.	.	.	.	.	.	.	.	.	1446402	COG1_congenital_disorder_of_glycosylation	MONDO:MONDO:0012637,MedGen:C2931011,OMIM:611209,Orphanet:263508	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.22	T	0.336	B	0.019	B	0.000	D	0.873	D	1.445	L	1.91	T	-1.042	T	0.044	T	0.271	1.185	9.816	3.36	1.295	2.359	9.422	0.017	0.00487490657069	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1229728305	5.472e-06	5.472e-06	2.722e-06	8.25e-06	2.319e-05	2.35e-06	1.7e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	4.496e-06	1.656e-05	2.319e-05	1.314e-05	1.313e-05	1.284e-05	1.344e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.221	0.18889	T	0.232	0.33780	T	0.336	0.33356	B	0.013	0.16460	B	0.000198	0.48115	D	0.148036	0.872728	0.35594	D	1.495	0.37439	L	1.91	0.23283	T	-0.1	0.08495	N	0.039	0.01274	-1.0419	0.16741	T	0.044	0.19111	T	10	0.10020012	0.18233	T	0.004875	0.12224	T	0.017	0.02790	0.242	0.17524	0.301789629655	0.29801	.	.	0.108429119813	0.12225	0.362176299095	0.19703	T	0.007546	0.11823	T	-0.24086	0.15239	T	-0.486901	0.23716	T	0.207738071680069	0.20834	T	0.889711	0.62218	D	0.055862147	0.10912	0.07928001	0.17834	0.055862147	0.10912	0.07928001	0.17834	-3.52	0.16713	T	0.07055172326588655	0.02735	0.080	0.13783	B	.;.	.;.	2.045765	0.26006	16.97	0.90705341072837375	0.19956	0.51207	0.28842	D	AEFDBCIJ	0.133686	0.25343	N	-0.192578300364029	0.33443	1.897368	-0.112845440726949	0.34872	2.010841	0.992240826757666	0.32771	0.722319	0.85440	0	0.724815	0.89359	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.44	3.36	0.37579	2.392000	0.44087	1.544000	0.27247	0.618000	0.50648	0.992000	0.37556	0.905000	0.28034	0.896000	0.43308	0.0:0.4735:0.4079:0.1186	9.422	0.37722	466	0.78352	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	947.98	36	chr17	73201862	.	G	A	947.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.210e-01;DP=848;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=-1.056e+00;SOR=0.636	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1220	20	0	1	0
chr17	73232240	73232240	G	C	exonic	FAM104A	.	nonsynonymous SNV	FAM104A:NM_001098832:exon1:c.C67G:p.P23A	.	.	434	1068	20	0	0	20	0.00927644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.705	P	0.359	B	.	.	0.843	N	0	N	0.55	T	-1.061	T	0.062	T	0.486	2.525	14.40	3.01	0.690	3.807	6.088	0.156	0.0417095240966	0.0044	0.00239617	0.0039	0.0018	0.0019	0	0.0003	0.0062	0.0062	0.0013	0.0038098	589	154602	rs180917408	0.0058	0.0058	0.0059	0.0058	0.0141	0.0057	0.0057	0.0116	0.0107	0.0010	0.0024	0.0025	2.523e-05	0.0005	0.0141	0.0070	0.0048	0.0016	0.0039	0.0040	0.0043	0.0036	0.0065	0.0037	0.0036	0.0060	0.0058	0.0015	0	0.0045	0.0020	0	0.0003	0.0136	0.0065	0.0043	0.0004	0.108	0.29420	T	0.091	0.49942	T	0.705	0.41986	P	0.359	0.43123	B	.	.	.	.	0.842808	0.28607	N	0.805	0.20218	L	0.55	0.58176	T	-0.7	0.21644	N	0.412	0.48504	-1.0613	0.11434	T	0.062	0.25672	T	9	0.007984251	0.00181	T	0.04171	0.60073	D	0.156	0.40720	.	.	0.46763814438	0.46390	0.166938773126972	0.16613	0.370701444111	0.38581	0.722039461136	0.70343	T	0.027087	0.40233	T	-0.356881	0.04309	T	-0.282522	0.46546	T	0.066659530329254	0.08175	T	0.662834	0.41282	T	0.0840635	0.19440	0.12637298	0.30437	0.0840635	0.19439	0.12637298	0.30436	-2.866	0.08828	T	.	.	0.064	0.11845	B	.;.;.;.	.;.;.;.	4.039256	0.59786	24.1	0.98713176618007037	0.45083	0.66195	0.32994	D	AEFGBHCIJ	0.134599	0.25467	N	-0.387578163074751	0.25910	1.410121	-0.368279065433257	0.25948	1.43021	0.999999999999999	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	5.0	3.01	0.33872	4.367000	0.59270	6.267000	0.55357	0.651000	0.53179	0.985000	0.35982	1.000000	0.68203	0.965000	0.52897	0.094:0.0:0.7203:0.1857	6.088	0.19200	416	0.81733	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1211.98	33	chr17	73232240	.	G	C	1211.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.699;DP=770;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.38;ReadPosRankSum=-1.304e+00;SOR=0.676	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1159	20	0	1	0
chr17	73236741	73236741	A	G	exonic	C17orf80	.	nonsynonymous SNV	C17orf80:NM_001100621:exon3:c.A1259G:p.Q420R	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.0	B	0.002	B	0.000	N	1.000	N	0.205	N	2.91	T	-1.001	T	0.017	T	0.041	0.544	6.942	-3.17	-0.680	-0.262	6.212	0.034	0.00272654647243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.879	0.02562	T	0.799	0.04104	T	0.0	0.02946	B	0.002	0.06944	B	0.000059	0.00387	N	4.068360	1	0.08975	N	1.01	0.25309	L	2.71	0.12055	T	-0.98	0.25986	N	0.053	0.02462	-1.0011	0.29602	T	0.017	0.07092	T	10	0.04053971	0.02631	T	0.002727	0.05637	T	0.034	0.08419	0.096	0.01287	0.0138822411134	0.00435	0.030013735505194393	0.02950	0.0321073474294	0.03340	.	.	.	0.008051	0.07409	T	-0.404078	0.02176	T	-0.818206	0.01489	T	0.0475469429147924	0.05062	T	0.513049	0.16451	T	0.025148539	0.01421	0.035120875	0.02704	0.025148539	0.01421	0.035120875	0.02704	-3.273	0.13634	T	.	.	0.070	0.08081	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.911249	0.00907	0.034	0.60541334276654069	0.06488	0.01728	0.05467	N	AEFBI	0.042406	0.06576	N	-1.49853534714335	0.01860	0.08160253	-1.51236882101275	0.02249	0.1031269	0.997154674303258	0.35326	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.87	-3.17	0.04882	-0.304000	0.08238	-1.788000	0.04725	-0.043000	0.17390	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4238:0.1446:0.4317:0.0	6.212	0.19848	419	0.81524	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1628.98	114	chr17	73236741	.	A	G	1628.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.530e-01;DP=2299;ExcessHet=0.0000;FS=0.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.51;ReadPosRankSum=-6.380e-01;SOR=0.731	GT:AD:DP:GQ:PL	0/0:134,0:134:99:0,120,1800	20	0	1	0
chr17	73247252	73247252	C	T	exonic	C17orf80	.	stopgain	C17orf80:NM_001100621:exon5:c.C1633T:p.R545X	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.440	N	0.999	D	.	.	.	.	.	.	.	.	.	3.319	17.16	-2.43	-0.575	-1.259	2.704	.	.	0.0002	0.000199681	0.0004	9.612e-05	0.0003	0	0	0.0006	0	6.057e-05	0.0003299	51	154602	rs201280325	0.0003	0.0003	0.0003	0.0003	0.0007	0.0003	0.0003	0.0002	0.0001	0	0.0002	0.0079	0	0	0.0007	0.0001	0.0007	0.0002	0.0003	0.0003	0.0004	0.0003	0.0004	0.0003	0.0002	0.0002	0.0002	0	0	6.541e-05	0.0075	0	0	0	0.0003	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.440464	0.04757	N	1.399460	0.953872	0.47278	D	.	.	.	.	.	.	.	.	.	0.055	0.05670	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0880479	0.62968	D	0.194675	0.82835	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant;.;Tolerant;.	.;High;.;High;.	5.493541	0.91510	32	0.93951353651387459	0.24014	0.00492	0.02329	N	AEFDBI	0.030223	0.03001	N	-0.432427601816662	0.24339	1.31354	-0.859534762766361	0.13058	0.6753454	2.30137796170688E-4	0.06048	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	2.31	-2.43	0.06145	-1.263000	0.02959	-9.687000	0.00789	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.239000	0.22975	0.2115:0.3679:0.0:0.4206	2.704	0.04837	419	0.81524	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1211.98	33	chr17	73247252	.	C	T	1211.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.090;DP=775;ExcessHet=0.0000;FS=2.955;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.78;ReadPosRankSum=0.194;SOR=1.037	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1278	20	0	1	0
chr17	73379535	73379535	T	C	exonic	SDK2	.	nonsynonymous SNV	SDK2:NM_001144952:exon35:c.A4777G:p.R1593G,	.	.	.	.	.	.	.	.	.	.	.	3310502	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.926	P	0.599	P	0.000	D	0.679	D	1.115	L	0.31	T	-0.596	T	0.187	T	0.426	3.407	17.51	2.39	0.314	1.733	13.991	0.160	0.132350197829	7.7e-05	0.000199681	0.0001	9.97e-05	8.777e-05	0	0	0	0	0.0010	0.0001164	18	154602	rs373146531	5.413e-05	5.814e-05	3e-05	7.852e-05	0.0008	4.418e-05	4.089e-05	0.0007	0.0006	0	0	0	0	0	0.0003	4.502e-06	4.977e-05	0.0008	3.95e-05	3.939e-05	5.149e-05	2.694e-05	0.0008	1.718e-05	1.131e-05	0.0003	0.0002	2.415e-05	0	0	0	0	0	0	1.472e-05	0	0.0008	0.002	0.72154	D	0.004	0.74150	D	0.429	0.35556	B	0.261	0.39516	B	0.000198	0.48115	D	0.189690	0.678872	0.33214	D	1.995	0.54099	M	0.31	0.58613	T	-5.6	0.86608	D	0.563	0.58713	-0.5964	0.64963	T	0.187	0.53691	T	10	0.095333576	0.17020	T	0.13235	0.81467	D	0.160	0.41473	.	.	0.679174988471	0.67644	0.5634425636179791	0.56271	0.649840080284	0.58279	0.304615288973	0.11093	T	0.184343	0.53696	T	-0.305176	0.08180	T	-0.278617	0.46945	T	0.33330316849645	0.26357	T	0.974303	0.90829	D	0.6876294	0.77383	0.6411479	0.79033	0.6876294	0.77384	0.6411479	0.79034	-6.644	0.51388	T	.	.	0.301	0.61244	B	.;.	.;.	2.996821	0.40031	21.1	0.99680769524278146	0.79241	0.93186	0.57550	D	AEFDGBI	0.557087	0.56686	D	-7.01082320798407e-05	0.41853	2.510855	0.0210154604005285	0.40692	2.432581	0.311205950302883	0.19288	0.718356	0.82227	0	0.573888	0.26702	0	0.570548	0.19454	0	0.564101	0.26826	0	.	.	4.61	2.39	0.28492	1.704000	0.37476	1.194000	0.24787	-0.157000	0.11712	1.000000	0.71638	0.903000	0.28003	0.745000	0.35611	0.0:0.0:0.645:0.355	13.991	0.63881	468	0.78227	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1252.98	117	chr17	73379535	.	T	C	1252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.180e-01;DP=840;ExcessHet=0.0000;FS=7.062;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.71;ReadPosRankSum=2.61;SOR=0.808	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1311	20	0	1	0
chr17	73387941	73387941	G	C	exonic	SDK2	.	nonsynonymous SNV	SDK2:NM_001144952:exon30:c.C4289G:p.S1430C,	.	.	425	1081	15	1	0	17	0.00780174	.	.	3221649	SDK2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.739	P	0.534	P	0.000	D	1.000	D	2.725	M	0.49	T	-0.781	T	0.035	T	0.371	3.863	19.63	4.61	2.116	9.119	17.021	0.486	.	0.0059	0.0257588	0.0177	0.0343	0.0049	0.1610	0.0154	0.0016	0.0063	0.0077	0.0075355	1165	154602	rs2270724	0.0036	0.0036	0.0036	0.0035	0.0782	0.0035	0.0034	0.0758	0.0749	0.0204	0.0012	0.0040	0.0782	0.0050	0.0060	0.0003	0.0060	0.0049	0.0092	0.0092	0.0084	0.0099	0.0873	0.0088	0.0086	0.0806	0.0780	0.0183	0	0.0022	0.0037	0.0873	0.0062	0	0.0003	0.0080	0.0062	0.003	0.68238	D	0.0	0.92824	D	0.739	0.42933	P	0.534	0.48679	P	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	3.085	0.87354	M	0.49	0.55775	T	-3.42	0.68880	D	0.891	0.89020	-0.7810	0.56246	T	0.035	0.14943	T	10	0.0038103163	0.00071	T	.	.	.	0.486	0.77464	.	.	0.738802388025	0.73646	0.5958097826839873	0.59510	0.352155026023	0.37058	0.680533111095	0.64345	T	0.166649	0.51297	T	-0.347331	0.04897	T	-0.20402	0.54265	T	0.0725339815045578	0.09002	T	0.914109	0.69400	D	0.50747746	0.67532	0.35324672	0.60889	0.50747746	0.67533	0.35324672	0.60889	-13.705	0.92058	D	.	.	0.493	0.69448	A	.;.	.;.	4.619927	0.73354	26.0	0.99101227642148582	0.52471	0.99622	0.98079	D	AEFDGBI	0.869338	0.78981	D	0.4893290483055	0.66463	4.953683	0.521166715714731	0.69415	5.357315	0.999999890296304	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.61	4.61	0.56724	9.330000	0.96411	11.497000	0.92950	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.0:1.0:0.0	17.021	0.86306	467	0.78285	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	781.98	35	chr17	73387941	.	G	C	781.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.679e+00;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.90;ReadPosRankSum=-2.083e+00;SOR=0.756	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1048	20	0	1	0
chr17	73395260	73395260	C	T	exonic	SDK2	.	nonsynonymous SNV	SDK2:NM_001144952:exon25:c.G3487A:p.E1163K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.988	D	0.833	P	0.000	D	1.000	D	1.76	L	0.41	T	-0.650	T	0.263	T	0.922	4.335	22.8	5.05	2.350	5.735	18.425	0.358	0.0783670638568	.	.	8.469e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs749923803	4.789e-06	4.788e-06	2.723e-06	6.877e-06	1.16e-05	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	0	1.16e-05	6.573e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.013	0.53900	D	0.041	0.53426	D	0.988	0.62325	D	0.833	0.59784	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.245	0.63543	M	0.41	0.57100	T	-3.21	0.66896	D	0.718	0.72031	-0.6496	0.62732	T	0.263	0.63361	T	10	0.7659594	0.76706	D	0.078367	0.72989	D	0.358	0.67872	0.528	0.63412	0.736414146471	0.73405	0.7203288120915632	0.71975	0.941044251343	0.72205	0.65693718195	0.60972	T	0.165997	0.51206	T	0.148933	0.69169	D	0.157684	0.80663	D	0.976695001125336	0.71497	D	0.883312	0.60567	D	0.34412217	0.56605	0.29529163	0.55561	0.34412217	0.56605	0.29529163	0.55560	-10.552	0.77145	D	.	.	0.301	0.53048	B	.;.	.;.	3.845238	0.55667	23.6	0.99920698753737025	0.98721	0.93912	0.59551	D	AEFDGBCI	0.764459	0.70124	D	0.45332220980706	0.64391	4.692649	0.42107989191663	0.62881	4.511169	0.999999999526085	0.74766	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.620846	0.47308	0	.	.	5.05	5.05	0.67566	5.864000	0.69328	7.610000	0.61877	-0.175000	0.10903	1.000000	0.71638	1.000000	0.68203	0.135000	0.19760	0.0:1.0:0.0:0.0	18.425	0.90551	470	0.78111	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2605.98	33	chr17	73395260	.	C	T	2605.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=904;ExcessHet=0.0000;FS=0.519;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.30;ReadPosRankSum=0.669;SOR=0.652	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1304	20	0	1	0
chr17	73437987	73437987	C	T	exonic	SDK2	.	nonsynonymous SNV	SDK2:NM_001144952:exon7:c.G893A:p.R298Q,	.	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.014	B	0.018	B	0.113	U	0.933	N	0.77	N	1.68	T	-1.009	T	0.036	T	0.179	2.623	14.73	4.1	1.127	1.974	6.707	0.065	.	.	0.00638978	0.0123	0.0005	0.0023	0	0	0	0.005	0.0301	0.0024838	384	154602	rs546431565	0.0019	0.0020	0.0010	0.0029	0.0319	0.0019	0.0018	0.0309	0.0304	0.0002	2.802e-05	0	2.801e-05	2.052e-05	0.0016	2.411e-05	0.0022	0.0319	0.0011	0.0011	0.0006	0.0017	0.0342	0.0010	0.0010	0.0299	0.0283	0.0002	0	0	0	0.0002	0	0	0	0	0.0342	0.008	0.58626	D	0.145	0.33000	T	0.014	0.16867	B	0.018	0.18489	B	0.112725	0.19345	U	0.466924	0.933419	0.26996	N	0.76	0.19266	N	1.68	0.27184	T	-0.33	0.12472	N	0.241	0.27197	-1.0087	0.27323	T	0.036	0.15422	T	10	0.0048659146	0.00104	T	.	.	.	0.065	0.18881	.	.	0.191931220699	0.18833	0.5780800715697186	0.57737	0.287369703213	0.31141	0.30911642313	0.11774	T	0.018139	0.14677	T	-0.548224	0.00299	T	-0.535888	0.18703	T	0.0170755405499214	0.00454	T	0.90161	0.65783	D	0.10013258	0.23639	0.09788593	0.23316	0.10013258	0.23639	0.09788593	0.23315	-4.527	0.31240	T	.	.	0.081	0.08465	B	.	.	3.142884	0.42517	21.6	0.9985064422361648	0.93013	0.62731	0.31871	D	AEFDGBI	0.233102	0.35608	N	-0.563945626544369	0.20048	1.054007	-0.433002980180035	0.24035	1.313952	0.00607302397385722	0.11122	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.07	4.1	0.47196	2.035000	0.40776	2.184000	0.31153	0.587000	0.30956	0.511000	0.27041	0.975000	0.29991	0.761000	0.36181	0.0:0.5764:0.2683:0.1552	6.707	0.22447	454	0.79125	Immunoglobulin subtype	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1950.11	37	chr17	73437987	.	C	T	1950.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.00;DP=832;ExcessHet=0.1072;FS=2.226;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.00;ReadPosRankSum=0.816;SOR=0.511	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,101,1343	19	0	2	0
chr17	74301072	74301072	G	A	exonic	DNAI2	.	nonsynonymous SNV	DNAI2:NM_001172810:exon8:c.G891A:p.M297I	Ciliary dyskinesia, primary, 9, with or without situs inversus	.	0	1521	1	0	0	1	0.000328623	.	.	654834	Primary_ciliary_dyskinesia|not_specified	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.14	T	0.0	B	0.001	B	0.293	N	0.999	N	0.66	N	2.14	T	-1.052	T	0.021	T	0.106	1.375	10.52	-11.1	-1.570	-0.504	7.217	0.038	0.00241591658441	.	.	4.119e-05	0	0	0	0	1.499e-05	0	0.0002	3.23e-05	5	154602	rs750750518	2.6e-05	2.599e-05	2.314e-05	2.888e-05	0.0021	1.933e-05	1.692e-05	0.0012	0.0009	0	0	0	0	0	0.0021	1.169e-05	4.968e-05	0.0001	4.596e-05	4.593e-05	5.139e-05	4.029e-05	0.0004	2.108e-05	1.526e-05	7.301e-05	3.033e-05	0	0	0	0	0	0	0	7.35e-05	0	0.0004	0.111	0.29029	T	0.098	0.39645	T	0.0	0.02946	B	0.001	0.04355	B	0.292969	0.14734	N	0.699713	0.999389	0.21275	N	0.985	0.24966	L	2.14	0.19450	T	-0.61	0.18042	N	0.189	0.22098	-1.0518	0.13899	T	0.021	0.09009	T	10	0.0630188	0.08147	T	0.002416	0.04729	T	0.038	0.09825	0.481	0.56142	0.0986583533028	0.09354	0.10460961141638588	0.10390	0.260195621557	0.28586	0.530730128288	0.43137	T	0.037916	0.26290	T	-0.550268	0.00290	T	-0.736049	0.04059	T	0.0352244338350153	0.02846	T	0.787921	0.43457	T	0.11039478	0.26095	0.11243319	0.27129	0.11039478	0.26095	0.11243319	0.27128	-6.408	0.50109	T	0.17389393781656115	0.22054	0.093	0.33249	B	.;.;.;.	.;.;.;.	0.472311	0.08418	5.175	0.83098685962420527	0.14541	0.26900	0.23125	N	AEFDBCI	0.067733	0.13329	N	-1.47797021107167	0.02006	0.08814072	-1.54096140239427	0.02039	0.09319491	0.999919093745475	0.45857	0.62174	0.39705	0	0.600433	0.49495	0	0.491614	0.08109	1	0.691587	0.68394	0	.	.	5.56	-11.1	0.00116	-0.818000	0.04574	-0.215000	0.10817	-0.826000	0.02916	0.032000	0.20554	0.044000	0.21668	0.412000	0.27050	0.3877:0.0935:0.4553:0.0635	7.217	0.25143	707	0.57054	.;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1096.98	36	chr17	74301072	.	G	A	1096.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.460e-01;DP=819;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=-5.360e-01;SOR=0.686	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1166	20	0	1	0
chr17	74312223	74312223	C	T	exonic	DNAI2	.	nonsynonymous SNV	DNAI2:NM_001172810:exon12:c.C1679T:p.P560L	Ciliary dyskinesia, primary, 9, with or without situs inversus	.	4	1508	10	0	0	10	0.00330469	.	.	256393	not_specified|Primary_ciliary_dyskinesia_9|Primary_ciliary_dyskinesia	MedGen:CN169374|MONDO:MONDO:0012906,MedGen:C2676235,OMIM:612444,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.28	T	0.005	B	0.002	B	0.006	N	1.000	N	1.905	M	-0.17	T	-1.035	T	0.187	T	0.087	-0.482	1.782	-1.55	0.412	0.003	2.332	0.064	.	0.0010	0.00319489	0.0023	0.0004	0.0004	0	0.0028	0.0011	0	0.0087	0.0013519	209	154602	rs151241589	0.0013	0.0013	0.0011	0.0015	0.0067	0.0013	0.0013	0.0063	0.0061	0.0002	0.0001	0	2.624e-05	0.0027	0.0019	0.0010	0.0010	0.0067	0.0010	0.0010	0.0009	0.0012	0.0083	0.0009	0.0009	0.0062	0.0054	0.0003	0	0.0001	0	0.0007	0.0026	0	0.0011	0.0015	0.0083	0.076	0.34269	T	0.276	0.35082	T	0.005	0.12996	B	0.002	0.06944	B	0.006285	0.01118	N	10.799300	1	0.08975	N	1.525	0.38595	L	-0.14	0.66652	T	-0.7	0.19933	N	0.217	0.27197	-1.0353	0.18762	T	0.187	0.53676	T	10	0.007289797	0.00166	T	.	.	.	0.064	0.18567	.	.	0.474643619859	0.47091	0.18816252618940907	0.18734	0.2567864681	0.28246	0.274821817875	0.06781	T	0.011744	0.11702	T	-0.547178	0.00303	T	-0.555453	0.16806	T	0.00328890195013933	0.00035	T	0.60154	0.22486	T	0.03158688	0.03026	0.030636253	0.01544	0.037525658	0.04827	0.03746203	0.03404	-4.374	0.30507	T	.	.	0.085	0.09965	B	.;.;.;.	.;.;.;.	1.105640	0.14901	11.43	0.67238295708080453	0.08295	0.06415	0.12420	N	AEFBI	0.060474	0.11493	N	-1.07614781901343	0.07085	0.3280867	-1.15536338780169	0.06672	0.3219387	1.53322798104637E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.71	-1.55	0.08105	0.535000	0.22822	0.967000	0.23031	-0.214000	0.08267	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3091:0.2922:0.303:0.0957	2.332	0.03978	725	0.54935	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	1456.98	58	chr17	74312223	.	C	T	1456.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.603e+00;DP=1519;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.13;ReadPosRankSum=-7.650e-01;SOR=0.761	GT:AD:DP:GQ:PL	0/0:76,0:76:99:0,120,1800	20	0	1	0
chr17	74347850	74347850	C	A	exonic	KIF19	.	nonsynonymous SNV	KIF19:NM_153209:exon9:c.C998A:p.S333Y,	.	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	1.000	D	3.475	M	-0.99	T	0.575	D	0.693	D	0.982	4.664	25.7	5.68	2.705	7.491	18.629	0.899	0.110198976968	.	.	2.502e-05	0	0	0	0	4.682e-05	0	0	6.5e-06	1	154602	rs746060672	4.881e-06	1.094e-05	5.528e-06	4.223e-06	0.0003	2.03e-06	1.31e-06	6.131e-05	2.536e-05	0	0	0	0	0	0.0003	1.82e-06	0	3.666e-05	6.566e-06	6.562e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	3.54	0.93167	H	-0.99	0.75911	T	-6.0	0.89534	D	0.923	0.92667	0.575	0.91572	D	0.693	0.89407	D	9	0.9199288	0.91348	D	0.110199	0.78748	D	0.899	0.97173	0.767	0.89452	0.962818715129	0.96242	0.8935962982137343	0.89329	0.793957154954	0.65953	0.77336192131	0.77928	T	0.753088	0.93250	D	0.388237	0.89223	D	0.319899	0.89087	D	0.986374378204346	0.77109	D	0.975602	0.91418	D	0.808269	0.84439	0.8643909	0.92480	0.808269	0.84441	0.8643909	0.92480	-13.545	0.91483	D	.	.	0.993	0.95383	P	.;.	.;.	5.059898	0.84328	28.3	0.99531666686025355	0.69901	0.97949	0.78358	D	AEFDBI	0.902906	0.85135	D	0.949947506867091	0.93984	12.417	0.875217795845955	0.94398	12.73092	0.999999992101265	0.74766	0.580535	0.33130	0	0.578056	0.33634	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	5.68	5.68	0.88021	5.002000	0.63701	7.534000	0.59965	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	18.629	0.91309	773	0.48803	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1670.98	34	chr17	74347850	.	C	A	1670.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.194;DP=849;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.02;ReadPosRankSum=1.50;SOR=0.712	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1226	20	0	1	0
chr17	74352090	74352090	G	A	exonic	KIF19	.	nonsynonymous SNV	KIF19:NM_153209:exon13:c.G1811A:p.R604H,	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.911	D	.	.	0.986	D	2.25	M	-0.93	T	0.023	D	0.543	D	0.44	3.432	17.61	3.36	0.653	5.751	9.491	0.454	0.11274867132	.	.	6.275e-05	0	0	0	0	6.635e-05	0	0.0002	3.88e-05	6	154602	rs751181401	4.804e-05	5.746e-05	4.557e-05	5.057e-05	0.0014	3.861e-05	3.538e-05	0.0007	0.0005	0	0	0	0	0	0.0014	4.548e-05	5.07e-05	9.498e-05	3.943e-05	3.94e-05	5.14e-05	2.69e-05	8.822e-05	1.715e-05	1.129e-05	3.763e-05	2.576e-05	0	0	0	0	0	0	0	8.822e-05	0	0	0.005	0.68238	D	0.007	0.72224	D	1.0	0.90584	D	0.911	0.64720	D	.	.	.	.	0.986212	0.40398	D	2.25	0.63811	M	-1.07	0.76948	T	-3.44	0.67477	D	0.501	0.53357	0.023	0.82713	D	0.543	0.83185	D	9	0.6966524	0.72186	D	0.112749	0.79101	D	0.454	0.75347	.	.	0.866393452379	0.86509	0.5082054158008243	0.50742	0.692638023041	0.60672	0.696526288986	0.66643	T	0.161279	0.50546	T	-0.0738029	0.40718	T	-0.157252	0.58598	T	0.64294707775116	0.38162	D	0.937906	0.76702	D	0.22547206	0.45209	0.34943947	0.60568	0.22547206	0.45209	0.34943947	0.60568	-7.243	0.55789	T	.	.	0.113	0.22171	B	.;.	.;.	4.856349	0.79421	27.1	0.99787611174535229	0.87396	0.80297	0.39972	D	AEFDGBHCI	0.733681	0.68004	D	0.180758678058837	0.50275	3.219167	0.0709012440406634	0.43093	2.618277	0.999999896685694	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	5.36	3.36	0.37579	6.297000	0.72735	8.721000	0.78162	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.051000	0.15275	0.0759:0.0:0.7811:0.1429	9.491	0.38121	777	0.48198	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1350.98	33	chr17	74352090	.	G	A	1350.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.250e-01;DP=796;ExcessHet=0.0000;FS=0.835;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.85;ReadPosRankSum=-3.860e-01;SOR=0.585	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1050	20	0	1	0
chr17	74443910	74443910	C	A	exonic	GPRC5C	.	nonsynonymous SNV	GPRC5C:NM_001366261:exon3:c.C1144A:p.P382T	.	.	428	1062	31	1	0	33	0.015299	0.0016	0.084	2808331	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.46	T	0.983	D	0.775	P	0.039	N	1.000	D	0.69	N	2.3	T	-1.062	T	0.037	T	0.409	0.274	5.483	5.18	2.421	0.808	16.203	0.063	.	0.0015	0.00299521	0.0028	0.0003	0.0034	0	0.0003	0.0026	0.0055	0.0076	0.0026132	404	154602	rs142708564	0.0020	0.0020	0.0018	0.0023	0.0081	0.0020	0.0019	0.0076	0.0074	0.0005	0.0026	0.0036	2.522e-05	0.0006	0.0064	0.0016	0.0028	0.0081	0.0018	0.0018	0.0017	0.0019	0.0100	0.0016	0.0016	0.0077	0.0069	0.0007	0	0.0029	0.0046	0	0.0003	0.0136	0.0017	0.0057	0.0100	0.189	0.21224	T	0.35	0.17478	T	0.007	0.14184	B	0.007	0.12992	B	0.038911	0.24230	N	0.412978	0.647707	0.81001	D	.	.	.	2.27	0.17431	T	-1.11	0.28703	N	0.239	0.36779	-1.0620	0.11263	T	0.037	0.15943	T	10	0.004352629	0.00088	T	.	.	.	0.063	0.18251	.	.	0.0884992946249	0.08302	.	.	0.322169024805	0.34410	0.363022744656	0.19826	T	0.035498	0.23742	T	-0.483618	0.00705	T	-0.462754	0.26300	T	0.0174253554794817	0.00479	T	0.827917	0.49191	T	.	.	.	.	.	.	.	.	-4.327	0.28554	T	.	.	0.077	0.06387	B	.;.;.	.;.;.	1.828629	0.23235	15.94	0.78202249606816954	0.12199	0.48080	0.28127	N	AEFGBCI	0.596388	0.59058	D	-0.313090028819374	0.28649	1.582026	-0.211977405103111	0.31103	1.757264	0.999999286446192	0.74766	0.643511	0.44296	0	0.633656	0.55848	0	0.688494	0.62686	0	0.604944	0.38103	0	.	.	5.18	5.18	0.71140	1.896000	0.39421	1.768000	0.28610	0.599000	0.40250	0.639000	0.28076	1.000000	0.68203	0.114000	0.18915	0.0:1.0:0.0:0.0	16.203	0.81921	692	0.58729	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1387.98	35	chr17	74443910	.	C	A	1387.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.400e-02;DP=806;ExcessHet=0.0000;FS=0.721;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.73;ReadPosRankSum=-1.146e+00;SOR=0.787	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1280	20	0	1	0
chr17	74541725	74541725	C	G	exonic	CD300C	.	nonsynonymous SNV	CD300C:NM_006678:exon4:c.G539C:p.S180T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.984	D	0.835	P	0.060	N	1.000	N	2.265	M	3.77	T	-1.072	T	0.029	T	0.133	1.374	10.52	2.68	1.267	-0.079	5.053	0.064	0.00393319799752	.	.	8.594e-06	0	0	0	0	0	0	6.175e-05	6.5e-06	1	154602	rs756766390	1.163e-05	1.163e-05	6.809e-06	1.651e-05	0.0002	7.09e-06	5.79e-06	0.0001	8.65e-05	0	0	0	0	0	0	8.996e-07	1.657e-05	0.0002	6.573e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.014	0.53172	D	0.035	0.52389	D	0.984	0.60733	D	0.835	0.59863	P	0.060137	0.22271	N	0.388031	1	0.08975	N	2.09	0.57893	M	3.77	0.03863	T	-2.24	0.50175	N	0.126	0.11912	-1.0717	0.09043	T	0.029	0.12453	T	10	0.15202978	0.28724	T	0.003933	0.09274	T	0.064	0.18567	0.377	0.39156	0.192905019026	0.18896	0.3249372805120886	0.32406	0.454903777487	0.45175	0.300647497177	0.10498	T	0.018008	0.14594	T	-0.440101	0.01292	T	-0.666351	0.07844	T	0.37496355175972	0.27989	T	0.379462	0.09138	T	0.08810559	0.20541	0.08477001	0.19526	0.08810559	0.20540	0.08477001	0.19525	-7.231	0.55703	T	.	.	0.109	0.20972	B	.	.	1.712487	0.21803	15.36	0.97815535748454341	0.36161	0.05103	0.10904	N	AEFDBI	0.045206	0.07365	N	-0.0581111149310517	0.39241	2.310902	-0.233665204178718	0.30339	1.707313	0.00998223022611051	0.11946	0.487112	0.14033	0	0.563428	0.19063	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	4.74	2.68	0.30839	0.407000	0.20770	-1.065000	0.06439	-0.242000	0.07441	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.2094:0.6849:0.0:0.1057	5.053	0.13858	778	0.48011	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1188.98	34	chr17	74541725	.	C	G	1188.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.300e-02;DP=804;ExcessHet=0.0000;FS=0.756;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.11;ReadPosRankSum=0.750;SOR=0.803	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1276	20	0	1	0
chr17	74544657	74544657	G	A	exonic	CD300C	.	stopgain	CD300C:NM_006678:exon2:c.C352T:p.R118X,	.	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	4.266	22.3	-3.37	-0.775	-2.184	0.749	.	.	0.0005	0.00678914	0.0056	0.0006	0.0003	0.0098	0	0.0013	0.0066	0.0299	0.004877	754	154602	rs144695162	0.0028	0.0028	0.0020	0.0036	0.0272	0.0027	0.0027	0.0263	0.0259	0.0002	0.0002	0.0023	0.0076	5.616e-05	0.0029	0.0010	0.0039	0.0272	0.0020	0.0020	0.0013	0.0027	0.0307	0.0018	0.0017	0.0267	0.0251	0.0004	0	0.0008	0.0014	0.0095	0	0	0.0010	0.0009	0.0307	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.049	0.02088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.153577	0.27752	T	0.0275706	0.72121	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	5.104579	0.85307	28.6	0.92480421288503367	0.21911	0.03519	0.08702	N	AEFDGBCI	0.067730	0.13329	N	-0.322898003884421	0.28280	1.558556	-0.790543498519526	0.14727	0.7710024	0.999997533290741	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	2.07	-3.37	0.04591	-3.368000	0.00550	-9.105000	0.00867	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1495:0.2183:0.2623:0.3699	0.749	0.00924	793	0.45818	Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	4057.98	35	chr17	74544657	.	G	A	4057.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.153;DP=1030;ExcessHet=0.0000;FS=4.489;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.93;MQRankSum=0.00;QD=13.39;ReadPosRankSum=0.733;SOR=0.930	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr17	74592287	74592287	G	A	exonic	C17orf77	.	nonsynonymous SNV	C17orf77:NM_001302809:exon3:c.G241A:p.A81T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.838	P	0.069	B	.	.	1.000	N	0	N	0.56	T	-1.018	T	0.043	T	0.155	0.173	4.932	-3.88	-0.867	-0.449	3.833	0.061	0.00119982776173	.	.	9.893e-05	0	0	0	0	5.999e-05	0	0.0005	7.76e-05	12	154602	rs770857613	5.065e-05	5.062e-05	3.95e-05	6.191e-05	0.0002	4.127e-05	3.78e-05	0.0001	8.647e-05	0	0	0	2.52e-05	0	0.0002	4.678e-05	8.286e-05	0.0002	3.286e-05	3.284e-05	2.57e-05	4.037e-05	7.349e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2538.98	71	chr17	74592287	.	G	A	2538.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.26;DP=1333;ExcessHet=0.0000;FS=1.805;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=-5.750e-01;SOR=0.811	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,108,1620	20	0	1	0
chr17	74729265	74729265	G	T	exonic	RAB37	.	nonsynonymous SNV	RAB37:NM_175738:exon2:c.G82T:p.V28L,	.	.	435	1061	25	1	0	27	0.012564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.01	B	0.019	B	.	.	1.000	D	-0.305	N	-1.03	T	-0.746	T	0.225	T	0.431	2.507	14.34	5.09	2.400	7.164	16.350	0.306	0.0689948728007	0.0005	0.000599042	0.0009	0.0002	0.0021	0	0	0.0012	0.0033	0.0004	0.0009379	145	154602	rs140336944	0.0007	0.0007	0.0006	0.0007	0.0170	0.0006	0.0006	0.0143	0.0133	0.0010	0.0014	0.0022	0	1.872e-05	0.0170	0.0005	0.0014	0.0006	0.0008	0.0008	0.0008	0.0008	0.0020	0.0007	0.0006	0.0015	0.0013	0.0003	0	0.0020	0.0035	0	0	0.0136	0.0008	0.0038	0.0004	0.526	0.08067	T	0.251	0.23638	T	0.004	0.12183	B	0.01	0.14941	B	.	.	.	.	0.726816	0.29868	N	.	.	.	-1.03	0.76430	T	0.65	0.02332	N	0.636	0.66358	-0.7455	0.58170	T	0.225	0.58982	T	9	0.044011146	0.03312	T	0.068995	0.70606	D	0.306	0.62729	0.668	0.80602	0.557953424633	0.55455	.	.	.	.	.	.	.	.	.	.	-0.290497	0.09587	T	-0.220135	0.52724	T	0.0432263566364833	0.04278	T	0.950905	0.81786	D	.	.	.	.	.	.	.	.	-3.385	0.14855	T	.	.	0.461	0.62767	A	.;.	.;.	2.323430	0.29754	18.22	0.98899618855865357	0.48163	0.97683	0.76388	D	AEFGBI	0.853886	0.77088	D	-0.0638143658952433	0.38988	2.292037	0.170692603264838	0.48248	3.04338	0.999999999964245	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	5.09	5.09	0.68647	7.362000	0.78764	6.482000	0.55739	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	16.350	0.83035	586	0.69252	Small GTP-binding protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1449.98	36	chr17	74729265	.	G	T	1449.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.328e+00;DP=821;ExcessHet=0.0000;FS=0.657;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=-1.093e+00;SOR=0.765	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1263	20	0	1	0
chr17	74744901	74744901	G	A	exonic	RAB37	.	nonsynonymous SNV	RAB37:NM_001163990:exon6:c.G350A:p.R117H	.	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.932	D	0.003	N	0.906	D	0.66	N	-1.09	T	0.013	D	0.436	T	0.49	3.184	16.66	4.35	1.362	4.431	13.577	0.329	0.0888820195319	0.0002	0.000399361	0.0003	0	0	0	0	6.002e-05	0	0.0018	0.0002393	37	154602	rs149486886	0.0002	0.0002	0.0002	0.0003	0.0014	0.0002	0.0002	0.0012	0.0011	5.974e-05	0	0	0	1.872e-05	0.0003	0.0002	0.0002	0.0014	9.187e-05	9.185e-05	6.421e-05	0.0001	0.0014	5.521e-05	4.359e-05	0.0007	0.0005	2.404e-05	0	0	0	0	0	0	8.819e-05	0	0.0014	0.009	0.57480	D	0.024	0.56640	D	0.991	0.77913	D	0.806	0.66722	P	0.003306	0.35125	N	0.291326	0.90552	0.36277	D	0.66	0.16226	N	-1.09	0.77206	T	-2.84	0.63323	D	0.427	0.48227	0.013	0.82523	D	0.436	0.77580	T	10	0.045586824	0.03647	T	0.088882	0.75219	D	0.329	0.65126	.	.	0.799345439407	0.79747	0.5628952889373727	0.56216	0.753270066185	0.63885	0.515773355961	0.41032	T	0.524509	0.85653	D	-0.263911	0.12446	T	-0.187245	0.55849	T	0.324161142110825	0.25990	T	0.918208	0.84976	D	0.2664097	0.49711	0.19249615	0.42767	0.2664097	0.49711	0.19249615	0.42766	-8.734	0.65968	D	.	.	0.107	0.21277	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.509148	0.70594	25.5	0.99825073345814341	0.90764	0.49266	0.28394	N	ALL	0.388978	0.46838	N	0.0983910044779267	0.46386	2.87988	0.0848586443297628	0.43787	2.673235	1.0	0.98316	0.72623	0.87236	0	0.779548	0.99637	0	0.594344	0.31042	0	0.603991	0.37454	0	.	.	5.33	4.35	0.51454	3.087000	0.49865	7.510000	0.59607	-0.153000	0.12021	0.998000	0.41325	1.000000	0.68203	0.612000	0.31691	0.0:0.1562:0.8437:0.0	13.577	0.61347	652	0.62785	Small GTP-binding protein domain;.;Small GTP-binding protein domain;Small GTP-binding protein domain;.;Small GTP-binding protein domain;.;Small GTP-binding protein domain;Small GTP-binding protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	694.98	34	chr17	74744901	.	G	A	694.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.023;DP=743;ExcessHet=0.0000;FS=8.458;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.48;ReadPosRankSum=-8.210e-01;SOR=1.754	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1063	20	0	1	0
chr17	74850229	74850229	C	T	exonic	GRIN2C	.	nonsynonymous SNV	GRIN2C:NM_000835:exon6:c.G1468A:p.V490I	.	.	393	1103	26	0	0	26	0.0116487	.	.	717898	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.34	T	0.012	B	0.006	B	0.000	D	0.867	D	0.895	L	1.74	T	-1.020	T	0.078	T	0.063	2.147	13.13	3.09	2.256	2.112	8.195	0.062	.	0.0018	0.00678914	0.0045	0.0004	0.0017	0	0.0002	0.0024	0.0022	0.0214	0.0039909	617	154602	rs11575879	0.0026	0.0026	0.0021	0.0032	0.0195	0.0026	0.0025	0.0188	0.0184	0.0002	0.0017	0.0055	2.519e-05	0.0001	0.0094	0.0015	0.0038	0.0195	0.0024	0.0024	0.0021	0.0027	0.0222	0.0022	0.0021	0.0188	0.0175	0.0004	0	0.0039	0.0066	0.0002	0.0002	0.0204	0.0021	0.0028	0.0222	0.33	0.13131	T	0.283	0.22084	T	0.012	0.16265	B	0.006	0.12133	B	0.000493	0.43931	D	0.153988	0.866566	0.35484	D	0.46	0.12951	N	0.73	0.50721	T	-0.65	0.18877	N	0.137	0.20129	-1.0197	0.23812	T	0.078	0.31193	T	10	0.010271847	0.00229	T	.	.	.	0.062	0.17934	.	.	0.611931882649	0.60880	0.35387566347811217	0.35301	0.388676200589	0.40129	0.45320802927	0.32382	T	0.122326	0.44591	T	-0.595195	0.00156	T	-0.611476	0.11864	T	0.00969551111577982	0.00127	T	0.872813	0.58002	D	0.04485722	0.07242	0.039610934	0.04095	0.04485722	0.07242	0.039610934	0.04095	-6.864	0.53033	T	.	.	0.066	0.02313	B	.;.	.;.	3.849150	0.55744	23.6	0.96348833222253172	0.29510	0.74886	0.36645	D	AEFDBHCI	0.151619	0.27614	N	-0.257822359323592	0.30791	1.720286	-0.103504293223801	0.35248	2.037063	0.797738837798166	0.24130	0.653496	0.48692	0	0.613122	0.52510	0	0.61531	0.40942	0	0.604944	0.38103	0	.	.	4.06	3.09	0.34677	1.861000	0.39078	3.904000	0.40368	0.599000	0.40250	0.965000	0.33920	0.999000	0.35428	0.997000	0.79791	0.1604:0.7485:0.0:0.0911	8.195	0.30550	895	0.25842	Ionotropic glutamate receptor, L-glutamate and glycine-binding domain|Ionotropic glutamate receptor|Ionotropic glutamate receptor, L-glutamate and glycine-binding domain;Ionotropic glutamate receptor, L-glutamate and glycine-binding domain|Ionotropic glutamate receptor|Ionotropic glutamate receptor, L-glutamate and glycine-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	7293.66	36	chr17	74850229	.	C	T	7293.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.730;DP=1054;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=21.39;ReadPosRankSum=-3.210e-01;SOR=0.701	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1310	19	1	1	0
chr17	74893496	74893496	-	GGGTT	exonic	FADS6	.	frameshift insertion	FADS6:NM_178128:exon1:c.99_100insAACCC:p.A34Nfs*25,	.	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0001	7.931e-05	0.0002	0.0012	0.0001	0.0001	0.0005	0.0003	3.504e-05	2.557e-05	0.0008	0	0.0010	0.0012	4.21e-05	0.0002	0.0005	0.0004	0.0003	0.0003	0.0004	0.0020	0.0003	0.0002	0.0009	0.0007	0.0001	0	0.0001	0	0	0.0015	0	0.0003	0.0007	0.0020	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	2457.25	33	chr17	74893496	.	C	CGGGTT	2457.25	.	AC=2;AF=0.056;AN=36;DP=1092;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5314;MLEAC=2;MLEAF=0.056;MQ=60.00;QD=29.61;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,111,1140	17	1	0	3
chr17	74893515	74893515	-	GGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	exonic	FADS6	.	nonframeshift insertion	FADS6:NM_178128:exon1:c.80_81insTACGGAGCCCATGGAACCTACGGAGCCCATGGAACC:p.P33_A34insTEPMEPTEPMEP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	8568.97	33	chr17	74893497	.	CGGTTCCATGGGCTCCGTA	CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,C,CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,CCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	8568.97	.	AC=3,1,5,2;AF=0.071,0.024,0.119,0.048;AN=42;BaseQRankSum=0.354;DP=1189;ExcessHet=0.4237;FS=2.515;InbreedingCoeff=0.1378;MLEAC=3,1,5,2;MLEAF=0.071,0.024,0.119,0.048;MQ=59.89;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-9.180e-01;SOR=0.610	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0,0,0,0:39:99:.:.:0,111,1140,111,1140,1140,111,1140,1140,1140,111,1140,1140,1140,1140	12	1	1	0
chr17	74893515	74893515	-	GGTTCCATGGGCTCCGTA	exonic	FADS6	.	nonframeshift insertion	FADS6:NM_178128:exon1:c.80_81insTACGGAGCCCATGGAACC:p.P33_A34insTEPMEP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	8568.97	33	chr17	74893497	.	CGGTTCCATGGGCTCCGTA	CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,C,CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,CCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	8568.97	.	AC=3,1,5,2;AF=0.071,0.024,0.119,0.048;AN=42;BaseQRankSum=0.354;DP=1189;ExcessHet=0.4237;FS=2.515;InbreedingCoeff=0.1378;MLEAC=3,1,5,2;MLEAF=0.071,0.024,0.119,0.048;MQ=59.89;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-9.180e-01;SOR=0.610	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0,0,0,0:39:99:.:.:0,111,1140,111,1140,1140,111,1140,1140,1140,111,1140,1140,1140,1140	12	1	1	0
chr17	74893497	74893497	-	CATGGGCTCCGTA	exonic	FADS6	.	frameshift insertion	FADS6:NM_178128:exon1:c.98_99insTACGGAGCCCATG:p.A34Tfs*256,	.	.	429	803	98	141	51	431	0.191339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0001	7.691e-05	0.0002	0.0011	0.0001	9.685e-05	0.0005	0.0003	3.3e-05	2.49e-05	0.0008	0	0.0009	0.0011	4.107e-05	0.0002	0.0005	0.0003	0.0003	0.0003	0.0004	0.0018	0.0002	0.0002	0.0009	0.0006	9.334e-05	0	8.304e-05	0	0	0.0013	0	0.0003	0.0006	0.0018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	8568.97	33	chr17	74893497	.	CGGTTCCATGGGCTCCGTA	CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,C,CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,CCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	8568.97	.	AC=3,1,5,2;AF=0.071,0.024,0.119,0.048;AN=42;BaseQRankSum=0.354;DP=1189;ExcessHet=0.4237;FS=2.515;InbreedingCoeff=0.1378;MLEAC=3,1,5,2;MLEAF=0.071,0.024,0.119,0.048;MQ=59.89;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-9.180e-01;SOR=0.610	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0,0,0,0:39:99:.:.:0,111,1140,111,1140,1140,111,1140,1140,1140,111,1140,1140,1140,1140	12	1	1	0
chr17	74930587	74930587	G	A	exonic	OTOP2	.	nonsynonymous SNV	OTOP2:NM_178160:exon6:c.G952A:p.G318R,	.	.	426	1014	80	2	0	84	0.0397727	.	.	704366	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.55	T	0.009	B	0.008	B	0.915	N	1.000	N	-0.345	N	2.0	T	-0.955	T	0.014	T	0.11	-1.407	0.022	-1.72	-0.224	-0.393	7.43	0.013	.	0.0056	0.00419329	0.0077	0.0014	0.0020	0.0003	0.0005	0.0069	0.0089	0.0259	0.0070633	1092	154602	rs141455683	0.0071	0.0071	0.0063	0.0078	0.0260	0.0070	0.0069	0.0250	0.0247	0.0012	0.0029	0.0123	0.0002	0.0008	0.0260	0.0063	0.0077	0.0259	0.0049	0.0049	0.0049	0.0049	0.0222	0.0046	0.0045	0.0188	0.0175	0.0014	0.0011	0.0030	0.0089	0.0006	0.0005	0.0136	0.0069	0.0066	0.0222	0.524	0.07163	T	0.502	0.11115	T	0.009	0.15093	B	0.008	0.13708	B	0.915206	0.07441	N	1.037460	1	0.08975	N	0.55	0.14455	N	2.0	0.21473	T	1.04	0.01332	N	0.071	0.04426	-0.9554	0.40024	T	0.014	0.05705	T	10	0.003012538	0.00049	T	.	.	.	0.013	0.01715	0.332	0.31843	0.0297737177859	0.01360	0.1529508724129356	0.15217	0.191530735651	0.21486	0.232459336519	0.02155	T	0.008023	0.07382	T	-0.673912	0.00052	T	-0.721208	0.04737	T	0.000571438700328689	0.00005	T	0.342266	0.07430	T	0.028871108	0.02291	0.052443184	0.08640	0.028871108	0.02290	0.052443184	0.08639	-3.992	0.23683	T	.	.	0.073	0.04889	B	.;.	.;.	0.111383	0.05106	1.639	0.49088204705005861	0.04150	0.07585	0.13596	N	AEFGBI	0.122439	0.23758	N	-1.4242460922757	0.02427	0.1071593	-1.40111998355244	0.03241	0.150791	0.719820147298435	0.22918	0.549168	0.22868	0	0.59043	0.45803	0	0.590023	0.30420	0	0.542086	0.14980	0	.	.	5.32	-1.72	0.07671	-0.361000	0.07664	-0.207000	0.10889	-0.105000	0.15698	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4099:0.105:0.4851:0.0	7.43	0.26294	923	0.18507	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2115.98	37	chr17	74930587	.	G	A	2115.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.97;DP=999;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.42;ReadPosRankSum=1.15;SOR=0.675	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,103,1581	20	0	1	0
chr17	74930739	74930739	C	A	exonic	OTOP2	.	nonsynonymous SNV	OTOP2:NM_178160:exon6:c.C1104A:p.D368E,	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	0.999	D	2.52	M	1.63	T	-0.742	T	0.168	T	0.858	3.626	18.45	-3.55	-0.462	-1.234	13.678	0.497	0.113828543862	.	.	2.475e-05	0	8.646e-05	0	0	3.003e-05	0	0	1.94e-05	3	154602	rs768778471	5.267e-05	5.267e-05	5.445e-05	5.088e-05	0.0021	4.277e-05	3.953e-05	0.0012	0.0009	2.987e-05	4.472e-05	0	0	0	0.0021	4.766e-05	0.0001	1.159e-05	4.597e-05	4.593e-05	5.14e-05	4.03e-05	7.351e-05	2.108e-05	1.526e-05	2.847e-05	1.858e-05	0	0	0	0	0	0	0.0034	7.351e-05	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.998525	0.45035	D	3.195	0.89043	M	1.63	0.28002	T	-4.0	0.74051	D	0.891	0.89020	-0.7420	0.58350	T	0.168	0.50826	T	10	0.972224	0.96860	D	0.113829	0.79246	D	0.497	0.78163	0.937	0.99103	0.0551355673512	0.04727	0.8044460776279272	0.80398	0.644957180512	0.57972	0.690911471844	0.65837	T	0.220178	0.58340	T	-0.00144684	0.51454	T	-0.0640079	0.66050	T	0.938636779785156	0.60941	D	0.720928	0.33404	T	0.76415586	0.81699	0.7155444	0.83211	0.76415586	0.81700	0.7155444	0.83212	-9.603	0.71498	D	.	.	0.794	0.77025	P	.;.	.;.	0.755888	0.11254	7.884	0.99454617416472191	0.65479	0.33283	0.24791	N	AEFGBI	0.277130	0.39171	N	-0.23362370962025	0.31761	1.784266	-0.431156531540145	0.24089	1.317154	0.894021293311961	0.25920	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	5.47	-3.55	0.04343	-1.490000	0.02409	-13.095000	0.00480	-1.712000	0.00741	0.001000	0.13787	0.000000	0.08366	0.820000	0.38637	0.0:0.3898:0.0:0.6102	13.678	0.61947	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3546.98	37	chr17	74930739	.	C	A	3546.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.44;DP=1150;ExcessHet=0.0000;FS=4.204;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.91;ReadPosRankSum=-1.022e+00;SOR=0.934	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,103,1581	20	0	1	0
chr17	74947377	74947377	C	T	exonic	OTOP3	.	nonsynonymous SNV	OTOP3:NM_001272005:exon6:c.C1468T:p.R490W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.127	B	0.063	B	0.915	N	1.000	N	1.1	L	3.01	T	-0.955	T	0.021	T	0.203	1.399	10.61	-2.37	-0.101	0.497	7.421	0.038	0.0115352944643	7.7e-05	0.00139776	0.0005	0	0	0.0001	0	1.565e-05	0	0.0032	0.0004204	65	154602	rs372116266	0.0002	0.0002	0.0001	0.0003	0.0031	0.0002	0.0002	0.0028	0.0027	2.987e-05	8.944e-05	0	2.519e-05	0	0	2.878e-05	0.0003	0.0031	0.0002	0.0002	0.0001	0.0002	0.0041	0.0001	9.693e-05	0.0027	0.0023	2.405e-05	0	6.531e-05	0	0	0	0	4.41e-05	0	0.0041	.	.	.	.	.	.	0.127	0.26966	B	0.063	0.27082	B	0.915099	0.08526	N	0.947505	1	0.08975	N	1.5	0.37844	L	.	.	.	.	.	.	.	.	-0.9552	0.40060	T	0.021	0.09101	T	10	0.0076764226	0.00174	T	0.011535	0.29247	T	0.038	0.09825	.	.	0.21279746466	0.20884	0.4499873898637419	0.44916	0.035151546196	0.03706	0.421358376741	0.28023	T	0.069415	0.33703	T	-0.54618	0.00307	T	-0.56163	0.16224	T	0.0945919511001554	0.11751	T	0.79482	0.43725	T	0.089998916	0.21046	0.1552973	0.36408	0.089998916	0.21045	0.1552973	0.36407	-6.799	0.52552	T	.	.	0.108	0.20625	B	.;.	.;.	2.413488	0.31022	18.62	0.96885587895060155	0.31477	0.39430	0.26211	N	AEFBI	0.510925	0.53977	D	-0.627777724582124	0.18112	0.9377859	-0.627568313760056	0.18785	1.00509	2.25798458622229E-5	0.03498	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.04	-2.37	0.06262	0.144000	0.15956	-0.176000	0.11179	0.599000	0.40250	0.391000	0.26096	0.000000	0.08366	0.752000	0.35857	0.6689:0.2305:0.0:0.1006	7.421	0.26242	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1499.98	33	chr17	74947377	.	C	T	1499.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.290e-01;DP=857;ExcessHet=0.0000;FS=0.704;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.39;ReadPosRankSum=0.628;SOR=0.604	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr17	74949250	74949250	G	A	exonic	OTOP3	.	stopgain	OTOP3:NM_001272005:exon7:c.G1571A:p.W524X	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	5.702	36	4.45	2.031	9.407	17.077	.	.	0.0008	0.000199681	0.0009	0.0002	0.0004	0	0	0.0011	0.0011	0.0015	0.0008861	137	154602	rs138894640	0.0010	0.0010	0.0010	0.0010	0.0015	0.0010	0.0009	0.0012	0.0012	0.0002	0.0005	0.0031	0	9.365e-05	0.0002	0.0011	0.0008	0.0015	0.0007	0.0007	0.0008	0.0007	0.0017	0.0006	0.0006	0.0008	0.0007	0.0002	0	0.0012	0.0026	0	9.411e-05	0	0.0010	0.0005	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	0.000106	0.50451	D	0.085847	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275823	0.80956	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	12.362906	0.99976	58	0.99663319850889853	0.78074	0.96648	0.70202	D	AEFBCI	0.346924	0.44158	N	0.837282746262068	0.88373	9.553849	0.688312703260124	0.81492	7.539125	0.999997929330282	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.45	4.45	0.53365	9.533000	0.97129	11.681000	0.94222	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.0:0.0:1.0:0.0	17.077	0.86465	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2608.98	33	chr17	74949250	.	G	A	2608.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.880e-01;DP=1074;ExcessHet=0.0000;FS=1.169;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.66;ReadPosRankSum=4.000e-03;SOR=0.592	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1400	20	0	1	0
chr17	74949291	74949291	G	A	exonic	OTOP3	.	nonsynonymous SNV	OTOP3:NM_001272005:exon7:c.G1612A:p.G538R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	1.0	D	1.0	D	0.000	D	1.000	D	1.4	L	2.03	T	-1.025	T	0.107	T	0.813	3.891	19.78	4.28	1.946	6.254	16.709	0.415	0.0829754440851	.	.	8.245e-05	0	8.637e-05	0.0010	0	0	0	0	6.47e-05	10	154602	rs753881983	1.368e-05	1.368e-05	1.77e-05	9.626e-06	0.0002	8.94e-06	7.26e-06	0.0001	8.775e-05	2.987e-05	2.237e-05	3.828e-05	0.0002	0	0.0002	5.396e-06	1.656e-05	0	3.284e-05	3.281e-05	3.855e-05	2.686e-05	0.0006	1.26e-05	7.98e-06	0.0002	8.407e-05	0	0	0	0	0.0006	0	0	2.94e-05	0	0	.	.	.	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	0.999928	0.51308	D	2.045	0.56016	M	.	.	.	.	.	.	.	.	-1.0250	0.22083	T	0.107	0.38931	T	10	0.397427	0.55327	T	0.082975	0.74015	D	0.415	0.72555	0.426	0.47185	0.395289904662	0.39143	0.6213336101127647	0.62066	0.234523316295	0.25995	0.665301680565	0.62167	T	0.035215	0.23632	T	-0.137139	0.30345	T	-0.0515499	0.66917	D	0.686145782470703	0.40070	D	0.877812	0.59215	D	0.58453304	0.71855	0.6945843	0.82020	0.58453304	0.71856	0.6945843	0.82021	-8.968	0.67491	D	.	.	0.384	0.58668	A	.;.	.;.	5.090406	0.85006	28.5	0.99916714949982066	0.98449	0.88686	0.48732	D	AEFBCI	0.789423	0.71861	D	0.500582648084197	0.67125	5.040048	0.463966500965075	0.65618	4.846667	0.935673772302897	0.27223	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.28	4.28	0.50183	7.663000	0.82798	9.784000	0.81612	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:1.0:0.0	16.709	0.85240	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2852.98	33	chr17	74949291	.	G	A	2852.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.35;DP=980;ExcessHet=0.0000;FS=0.468;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=0.321;SOR=0.732	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1400	20	0	1	0
chr17	75265787	75265787	G	A	exonic	MRPS7	.	nonsynonymous SNV	MRPS7:NM_015971:exon5:c.G593A:p.R198Q,	.	.	428	1091	3	0	0	3	0.001373	.	.	1242051	not_provided|MRPS7-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.94	P	0.535	P	0.000	D	1.000	D	1.7	L	0.77	T	-0.881	T	0.142	T	0.738	3.375	17.38	6.07	2.885	8.019	20.659	0.187	0.0337677688375	0.0039	0.00239617	0.0043	0.0012	0.0017	0.0007	0.0085	0.0061	0.0033	0.0008	0.0040879	632	154602	rs35418346	0.0043	0.0043	0.0044	0.0042	0.0049	0.0042	0.0042	0.0048	0.0048	0.0007	0.0017	0.0004	0.0006	0.0085	0.0017	0.0049	0.0028	0.0009	0.0033	0.0033	0.0033	0.0032	0.0051	0.0030	0.0029	0.0047	0.0045	0.0007	0	0.0014	0.0003	0.0006	0.0076	0	0.0051	0.0033	0.0012	0.081	0.33418	T	0.181	0.51737	T	0.94	0.52768	P	0.535	0.48708	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.095	0.58118	M	0.77	0.49642	T	-1.96	0.45404	N	0.404	0.47949	-0.8807	0.49706	T	0.142	0.46220	T	10	0.00783205	0.00178	T	0.033768	0.55213	D	0.187	0.46274	.	.	0.874762915523	0.87353	0.5552199340240755	0.55448	0.16294634426	0.18388	0.425758123398	0.28629	T	0.133385	0.46403	T	-0.232595	0.16306	T	-0.0974883	0.63592	T	0.0299502835657634	0.01982	T	0.892511	0.62902	D	0.2819111	0.51231	0.18007869	0.40784	0.2913625	0.52119	0.19805165	0.43617	-3.892	0.22182	T	0.3007465540644633	0.39808	0.087	0.17103	B	.;.	.;.	4.405525	0.68111	25.2	0.99456858325692044	0.65581	0.97260	0.73641	D	ALL	0.953353	0.96958	D	0.615986230328638	0.74184	6.089948	0.654936953735296	0.78977	6.986488	1.0	0.98316	0.730579	0.87903	0	0.697927	0.68747	0	0.702456	0.68683	0	0.648885	0.59868	0	.	.	6.07	6.07	0.98675	8.146000	0.89551	8.575000	0.77622	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.073000	0.16832	0.0:0.0:1.0:0.0	20.659	0.99629	964	0.07719	Ribosomal protein S7 domain;Ribosomal protein S7 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1265.98	33	chr17	75265787	.	G	A	1265.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=852;ExcessHet=0.0000;FS=4.191;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.38;ReadPosRankSum=-3.010e-01;SOR=1.057	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr17	75492735	75492735	G	A	exonic	TMEM94	.	nonsynonymous SNV	TMEM94:NM_001321148:exon14:c.G1888A:p.A630T	.	.	.	.	.	.	.	.	.	.	.	3213643	TMEM94-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.000	N	0.893	N	0.69	N	-2.49	D	-0.773	T	0.363	T	0.265	1.128	9.598	2.52	0.327	1.267	4.132	0.195	0.0486462252046	0.0003	0.000399361	0.0003	0	0	0.0001	0	0.0005	0	0.0004	0.0002911	45	154602	rs147708696	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	0.0001	4.472e-05	0.0066	2.519e-05	0	0.0014	6.565e-05	0.0007	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	9.048e-05	7.012e-05	2.407e-05	0	6.538e-05	0.0043	0.0002	0	0	0.0002	0.0005	0.0002	0.411	0.12070	T	0.394	0.17750	T	0.0	0.02946	B	0.0	0.04355	B	0.000036	0.55875	N	0.163302	0.893219	0.27843	N	.	.	.	-2.49	0.89145	D	0.55	0.02721	N	0.084	0.10483	-0.7735	0.56664	T	0.363	0.72399	T	10	0.0068484247	0.00156	T	0.048646	0.63465	D	0.195	0.47612	.	.	0.317667799068	0.31381	0.2727674240561188	0.27189	0.378392664226	0.39249	0.46014714241	0.33331	T	0.052151	0.29079	T	-0.240955	0.15227	T	-0.291743	0.45591	T	0.00632802555028157	0.00070	T	0.784422	0.42483	T	0.017530069	0.00280	0.040695205	0.04456	0.017530069	0.00280	0.040695205	0.04456	-4.554	0.31589	T	.	.	0.066	0.03887	B	.;.;.;.	.;.;.;.	0.859572	0.12321	8.859	0.86671456339020292	0.16693	0.52886	0.29239	D	AEFBI	0.118363	0.23148	N	-0.98841067629656	0.08851	0.4165837	-0.880067525650507	0.12566	0.647168	0.914080574004901	0.26443	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.6	2.52	0.29514	1.317000	0.33237	1.336000	0.25703	-0.105000	0.15698	0.756000	0.29198	0.739000	0.26469	0.729000	0.35066	0.1365:0.1269:0.605:0.1315	4.132	0.09621	970	0.06235	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2948.98	42	chr17	75492735	.	G	A	2948.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.68;DP=1061;ExcessHet=0.0000;FS=0.978;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=-8.570e-01;SOR=0.764	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	20	0	1	0
chr17	75498997	75498997	G	A	exonic	TMEM94	.	nonsynonymous SNV	TMEM94:NM_001321148:exon30:c.G3943A:p.V1315M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.989	D	0.787	P	0.000	D	0.999	D	0.69	N	-3.88	D	0.587	D	0.789	D	0.489	2.673	14.90	5.88	2.782	4.945	7.716	0.564	0.344701925898	7.7e-05	.	6.799e-05	0.0002	0	0	0	9.22e-05	0	0	5.17e-05	8	154602	rs370635593	1.034e-05	1.779e-05	9.593e-06	1.11e-05	5.988e-05	6.21e-06	4.92e-06	9.92e-06	3.71e-06	5.988e-05	0	0	0	0	0	9.024e-06	3.333e-05	1.163e-05	6.573e-06	6.567e-06	1.285e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.041	0.42199	D	0.039	0.66756	D	0.989	0.62824	D	0.787	0.57594	P	0.000012	0.62929	D	0.062160	0.997437	0.45564	D	.	.	.	-3.88	0.95953	D	-0.7	0.19933	N	0.44	0.49965	0.587	0.91720	D	0.789	0.92850	D	10	0.4784781	0.60287	T	0.344702	0.92109	D	0.564	0.82175	.	.	0.894543483838	0.89349	0.5002404560327638	0.49945	1.12647056711	0.78467	0.555823802948	0.46678	T	0.36399	0.72965	T	-0.0162962	0.49381	T	0.0182503	0.71516	D	0.218820333411321	0.21405	T	0.957604	0.84101	D	0.044919744	0.07265	0.06045251	0.11514	0.044919744	0.07265	0.06045251	0.11514	-3.375	0.14722	T	.	.	0.239	0.47327	B	.;.;.;.	.;.;.;.	4.974487	0.82356	27.8	0.96629686340348608	0.30513	0.75150	0.36783	D	AEFDGBHCI	0.490742	0.52809	N	0.531543895834664	0.68965	5.290475	0.603534108197197	0.75194	6.268013	0.999999999771194	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.779548	0.98927	0	0.711	0.71501	0	.	.	5.88	5.88	0.94564	4.975000	0.63494	11.695000	0.94414	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.1903:0.0:0.8097:0.0	7.716	0.27872	976	0.04745	Cation-transporting P-type ATPase, C-terminal;Cation-transporting P-type ATPase, C-terminal;Cation-transporting P-type ATPase, C-terminal;Cation-transporting P-type ATPase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1115.98	34	chr17	75498997	.	G	A	1115.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.296;DP=825;ExcessHet=0.0000;FS=1.736;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=1.16;SOR=0.508	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr17	75502142	75502142	G	A	exonic	CASKIN2	.	nonsynonymous SNV	CASKIN2:NM_001142643:exon17:c.C2686T:p.P896S	.	.	406	1113	3	0	0	3	0.0013459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.009	B	0.004	B	0.893	N	1.000	D	1.245	L	-0.29	T	-0.818	T	0.208	T	0.062	-0.159	3.225	2.14	0.360	0.375	1.922	0.089	.	.	0.00559105	0.0040	0	0.0002	0	0	0	0	0.0273	0.0032082	496	154602	rs374609826	0.0016	0.0016	0.0010	0.0022	0.0254	0.0016	0.0015	0.0246	0.0242	0	8.948e-05	0	0	0	0.0009	1.799e-06	0.0023	0.0254	0.0008	0.0008	0.0004	0.0011	0.0237	0.0006	0.0006	0.0201	0.0188	0	0	0.0001	0	0	0	0	0	0	0.0237	0.251	0.18498	T	0.208	0.26883	T	0.009	0.15093	B	0.004	0.10090	B	0.892841	0.07306	N	1.062240	0.986921	0.24569	N	1.04	0.26193	L	-0.47	0.70133	T	-0.01	0.08653	N	0.078	0.05287	-0.8178	0.54071	T	0.208	0.56771	T	10	0.0027962923	0.00044	T	.	.	.	0.089	0.25827	0.19	0.10039	0.269682111328	0.26585	0.03967872947775032	0.03913	0.13630685124	0.15377	0.377530992031	0.21905	T	0.02174	0.16878	T	-0.552911	0.00280	T	-0.546045	0.17708	T	0.00750347469102786	0.00087	T	0.460354	0.13329	T	0.02823066	0.02129	0.03494811	0.02656	0.02823066	0.02129	0.03494811	0.02655	-5.199	0.38931	T	.	.	0.068	0.06571	B	.;.	.;.	0.726630	0.10958	7.623	0.88610794787367908	0.18113	0.37867	0.25859	N	AEFDBCI	0.253640	0.37310	N	-0.932856594154813	0.10080	0.4800267	-0.936697623480128	0.11232	0.5709873	0.131090871809753	0.17091	0.695654	0.57023	0	0.626922	0.53725	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.17	2.14	0.26518	0.549000	0.23037	0.381000	0.17781	-0.165000	0.11486	0.237000	0.24716	0.024000	0.20971	0.127000	0.19450	0.1835:0.1875:0.4855:0.1436	1.922	0.03109	976	0.04745	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1258.98	41	chr17	75502142	.	G	A	1258.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.728;DP=1030;ExcessHet=0.0000;FS=2.707;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.54;ReadPosRankSum=-1.139e+00;SOR=0.999	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,111,1380	20	0	1	0
chr17	75502994	75502994	G	A	exonic	CASKIN2	.	nonsynonymous SNV	CASKIN2:NM_001142643:exon17:c.C1834T:p.R612C	.	.	.	.	.	.	.	.	.	.	.	2337159	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.759	P	0.000	D	1.000	D	1.245	L	-0.33	T	-0.396	T	0.331	T	0.65	4.058	20.8	4.95	2.573	2.678	11.265	0.259	0.0736552044945	.	.	3.855e-05	0	0	0.0001	0	0	0	0.0002	3.88e-05	6	154602	rs763855349	3.233e-05	3.215e-05	3.147e-05	3.32e-05	0.0002	2.492e-05	2.233e-05	6.526e-05	4.459e-05	0	0	0	0.0002	0	0	2.884e-05	4.997e-05	6.991e-05	1.974e-05	1.97e-05	1.286e-05	2.694e-05	0.0002	5.25e-06	2.46e-06	.	.	2.417e-05	0	0	0	0.0002	0	0	1.472e-05	0	0	0.01	0.57480	D	0.033	0.58089	D	0.999	0.77913	D	0.759	0.56370	P	0.000230	0.47286	D	0.000000	0.999716	0.52396	D	0.69	0.16971	N	-0.52	0.70717	T	-2.09	0.47683	N	0.683	0.68950	-0.3961	0.72150	T	0.331	0.69902	T	10	0.5359504	0.63448	D	0.073655	0.71843	D	0.259	0.57090	0.227	0.15257	0.67054385244	0.66776	0.286336754177643	0.28546	0.668448552784	0.59290	0.744858384132	0.73688	T	0.037466	0.24486	T	-0.056591	0.43437	T	-0.114515	0.62250	T	0.61265641450882	0.36907	D	0.868313	0.58316	D	0.09465339	0.22260	0.07493604	0.16445	0.09465339	0.22260	0.07493604	0.16444	-5.551	0.42342	T	.	.	0.125	0.30103	B	.;.	.;.	4.472590	0.69705	25.4	0.99929301359763723	0.99279	0.92691	0.56311	D	AEFDBI	0.662564	0.63239	D	0.483461262235778	0.66123	4.909745	0.491624917116388	0.67432	5.083492	0.999978011894484	0.50053	0.695654	0.57023	0	0.578056	0.33634	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.95	4.95	0.64894	3.576000	0.53622	9.602000	0.81068	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.634000	0.32262	0.0:0.0:0.6894:0.3106	11.265	0.48339	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1143.98	38	chr17	75502994	.	G	A	1143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.980e-01;DP=828;ExcessHet=0.0000;FS=1.791;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=0.371;SOR=0.909	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr17	75522094	75522094	G	T	exonic	TSEN54	.	nonsynonymous SNV	TSEN54:NM_207346:exon8:c.G1013T:p.C338F,	Pontocerebellar hypoplasia type 2A, Autosomal recessive;Pontocerebellar hypoplasia type 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.997	D	0.85	P	0.002	N	0.893	D	1.87	L	0.39	T	-0.472	T	0.252	T	0.31	1.413	10.66	4.36	1.221	2.823	13.200	0.102	0.077847147298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.141	0.33442	T	0.997	0.70673	D	0.85	0.60657	P	0.002409	0.36612	N	0.308847	0.892501	0.35984	D	2.685	0.78553	M	0.39	0.57419	T	-3.04	0.62863	D	0.439	0.47765	-0.4725	0.69637	T	0.252	0.62178	T	10	0.38876396	0.54736	T	0.077847	0.72868	D	0.102	0.29158	0.299	0.26522	0.723311353475	0.72086	0.3933228605534309	0.39247	1.06429463323	0.76581	0.515867054462	0.41044	T	0.016941	0.13909	T	-0.0600095	0.42905	T	-0.323976	0.42138	T	0.958878219127655	0.65386	D	0.728327	0.34315	T	0.29517838	0.52469	0.36582622	0.61923	0.29517838	0.52469	0.36582622	0.61923	-1.032	0.01035	T	0.19780987218163687	0.26172	0.326	0.54968	B	.	.	4.564840	0.71961	25.8	0.92904503263828053	0.22461	0.81384	0.40798	D	AEFBCI	0.368927	0.45585	N	0.424807434660804	0.62788	4.500803	0.387682509567875	0.60805	4.27227	0.997351796488308	0.35530	0.706298	0.61202	0	0.702456	0.74545	0	0.570548	0.19454	0	0.613276	0.41899	0	.	.	5.33	4.36	0.51643	3.099000	0.49958	11.804000	0.96737	0.662000	0.56354	0.998000	0.41325	1.000000	0.68203	0.938000	0.47775	0.0:0.0:0.7104:0.2896	13.200	0.59187	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1963.98	34	chr17	75522094	.	G	T	1963.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.910e-01;DP=923;ExcessHet=0.0000;FS=1.924;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=0.728;SOR=0.530	GT:AD:DP:GQ:PL	0/1:86,82:168:99:1978,0,2181	20	0	1	0
chr17	75563152	75563152	G	A	exonic	LLGL2	.	nonsynonymous SNV	LLGL2:NM_001015002:exon7:c.G667A:p.V223M	.	.	433	1072	16	1	0	18	0.00832562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.985	D	0.742	P	0.303	N	1.000	N	2.325	M	1.51	T	-0.593	T	0.355	T	0.281	1.583	11.25	4.05	2.510	5.152	15.316	0.135	0.0248507445817	0.0029	0.00139776	0.0042	0.0012	0.0057	0	0.0035	0.0049	0.0058	0.0049	0.0040168	621	154602	rs143338056	0.0043	0.0043	0.0042	0.0044	0.0114	0.0042	0.0042	0.0092	0.0084	0.0006	0.0043	0.0117	0	0.0024	0.0114	0.0044	0.0050	0.0042	0.0032	0.0032	0.0032	0.0032	0.0041	0.0030	0.0029	0.0037	0.0036	0.0009	0.0066	0.0031	0.0133	0	0.0033	0.0136	0.0041	0.0085	0.0037	0.073	0.36113	T	0.202	0.38742	T	0.633	0.40250	P	0.355	0.42984	B	0.303216	0.14561	N	0.704763	1	0.08975	N	1.79	0.46772	L	1.51	0.64630	T	-1.03	0.27052	N	0.564	0.58883	-0.5931	0.65097	T	0.355	0.71796	T	10	0.0087815225	0.00199	T	0.024851	0.47835	T	0.135	0.36572	.	.	0.594227467544	0.59100	0.32140087886191104	0.32053	0.335818286482	0.35586	0.415488272905	0.27214	T	0.109955	0.42425	T	-0.396935	0.02425	T	-0.342405	0.40071	T	0.0330578776078582	0.02482	T	0.882012	0.60217	D	0.095066406	0.22365	0.0792426	0.17822	0.095066406	0.22365	0.0792426	0.17821	-6.796	0.53129	T	.	.	0.183	0.45507	B	.;.;.;.;.	.;.;.;.;.	3.699903	0.52758	23.3	0.9319612477105117	0.22863	0.77718	0.38245	D	AEFDBCI	0.624119	0.60781	D	0.283122283442948	0.55290	3.693388	0.271751003823107	0.53896	3.556514	0.894630970354174	0.25935	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.604944	0.38103	0	.	.	5.09	4.05	0.46415	4.484000	0.60002	4.429000	0.43344	0.672000	0.70159	0.934000	0.32416	1.000000	0.68203	0.950000	0.49671	0.0:0.1401:0.8598:0.0	15.316	0.73789	982	0.03397	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1573.98	41	chr17	75563152	.	G	A	1573.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.836;DP=829;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.80;ReadPosRankSum=1.12;SOR=0.713	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1360	20	0	1	0
chr17	75571720	75571720	G	A	exonic	LLGL2	.	nonsynonymous SNV	LLGL2:NM_001031803:exon18:c.G2230A:p.A744T	.	.	427	1088	7	0	0	7	0.0032066	.	.	704375	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.09	T	1.0	D	0.999	D	0.000	N	1.000	D	2.125	M	3.56	T	-1.200	T	0.046	T	0.668	3.951	20.2	5.4	2.544	9.552	19.161	0.266	.	0.0073	0.00259585	0.0068	0.0016	0.0045	0	0.0063	0.0105	0.0012	0.0007	0.0066364	1026	154602	rs148020757	0.0085	0.0085	0.0085	0.0084	0.0097	0.0083	0.0083	0.0096	0.0095	0.0009	0.0048	0.0178	0	0.0055	0.0028	0.0097	0.0074	0.0007	0.0065	0.0065	0.0069	0.0061	0.0099	0.0062	0.0061	0.0093	0.0091	0.0018	0.0011	0.0056	0.0202	0	0.0060	0.0034	0.0099	0.0095	0.0008	0.083	0.33585	T	0.177	0.29740	T	0.866	0.73220	P	0.517	0.65306	P	0.000000	0.84330	N	0.048273	1	0.81001	D	1.425	0.35738	L	3.44	0.05375	T	-2.19	0.49352	N	0.654	0.66959	-1.2002	0.00148	T	0.046	0.19919	T	10	0.009711862	0.00218	T	.	.	.	0.266	0.57999	.	.	0.728675624038	0.72626	0.653425146839852	0.65278	0.226262998433	0.25180	0.623384654522	0.56207	T	0.121822	0.44506	T	-0.333535	0.05848	T	-0.241489	0.50653	T	0.0372441637138232	0.03198	T	0.860814	0.55431	D	0.48738548	0.66347	0.32098234	0.58049	0.48738548	0.66347	0.32098234	0.58049	-6.22	0.48085	T	.	.	0.222	0.52776	B	.;.;.	.;.;.	5.033306	0.83731	28.1	0.97728672514960369	0.35604	0.96766	0.70824	D	AEFDGBCI	0.945191	0.95319	D	0.796035136911625	0.85859	8.703205	0.789783498702796	0.89074	9.828102	1.0	0.98316	0.695654	0.57023	0	0.655437	0.61614	1	0.723109	0.80598	0	0.620204	0.46100	0	.	.	5.4	5.4	0.77957	9.685000	0.97921	9.971000	0.82862	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.853000	0.40368	0.0:0.0:1.0:0.0	19.161	0.93518	981	0.03995	.;.;.	MRPL38|MRPL38	Spleen|Thyroid	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	753.98	45	chr17	75571720	.	G	A	753.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.960e-01;DP=785;ExcessHet=0.0000;FS=3.213;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.05;ReadPosRankSum=-1.747e+00;SOR=1.017	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1153	20	0	1	0
chr17	75594476	75594476	G	A	exonic	MYO15B	.	nonsynonymous SNV	MYO15B:NM_001309242:exon9:c.G2879A:p.R960Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs971144225	2.223e-06	4.771e-06	4.692e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	3.829e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	0.987195	0.24542	N	.	.	.	.	.	.	.	.	.	0.111	0.09772	.	.	.	.	.	.	.	0.06473771	0.08630	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02902	0.20890	T	.	.	.	.	.	.	.	.	.	0.633137	0.24745	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.422269	0.31153	18.65	0.52635165382195237	0.04785	0.10305	0.15848	N	AEFGBI	.	.	.	.	.	.	.	.	.	6.83009138750754E-5	0.04366	0.158359	0.03455	1	0.097471	0.02872	0	0.175771	0.04330	1	0.186031	0.04203	0	0.105945	0.23048	5.11	0.909	0.18460	0.112000	0.15312	3.365000	0.37889	-0.845000	0.02763	0.001000	0.13787	1.000000	0.68203	0.007000	0.07825	0.4203:0.0:0.5797:0.0	8.114	0.30091	982	0.03397	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1247.98	34	chr17	75594476	.	G	A	1247.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.580e-01;DP=1019;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=-3.020e-01;SOR=0.684	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1154	20	0	1	0
chr17	75624807	75624807	-	CAA	exonic	MYO15B	.	nonframeshift insertion	MYO15B:NM_001309242:exon58:c.8465_8466insCAA:p.N2823_S2824insN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0	0	0.0005	3.84e-05	1	26028	rs775323759	7.082e-05	6.202e-05	1.98e-05	0.0001	0.0006	5.299e-05	4.652e-05	0.0005	0.0004	0	0	0	0	0	0	0	3.267e-05	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3658.94	36	chr17	75624807	.	T	TCAA	3658.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.518;DP=1072;ExcessHet=0.0000;FS=1.217;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.04;ReadPosRankSum=0.774;SOR=0.587	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1456	20	0	1	0
chr17	75624891	75624891	C	-	exonic	MYO15B	.	frameshift deletion	MYO15B:NM_001309242:exon58:c.8549delC:p.Y2851Tfs*51,	.	.	427	1054	38	3	0	44	0.0204461	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00299521	0.0091	0.0035	0.0054	0	0	0.0060	0.0061	0.0130	0.0004226	11	26028	rs565251228	0.0038	0.0033	0.0032	0.0043	0.0128	0.0037	0.0036	0.0121	0.0118	0.0004	0.0031	0.0080	6.23e-05	0.0004	0.0071	0.0027	0.0036	0.0128	0.0022	0.0022	0.0019	0.0025	0.0095	0.0020	0.0019	0.0074	0.0066	0.0002	0.0022	0.0046	0.0109	0	0.0003	0.0102	0.0023	0.0028	0.0095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1025.94	36	chr17	75624890	.	AC	A	1025.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.750e-01;DP=937;ExcessHet=0.0000;FS=0.818;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=-8.730e-01;SOR=0.874	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1456	20	0	1	0
chr17	75625888	75625888	-	TGC	exonic	MYO15B	.	nonframeshift insertion	MYO15B:NM_001309242:exon61:c.8869_8870insTGC:p.L2958_R2959insL,	.	.	430	1076	14	2	0	18	0.00829493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0	0	0	0.0008	3.84e-05	1	26028	rs752091169	0.0002	0.0002	0.0002	0.0003	0.0034	0.0002	0.0002	0.0021	0.0017	0.0002	5.764e-05	4.995e-05	0	0	0.0034	0.0002	0.0005	0.0006	0.0001	0.0001	0.0001	0.0001	0.0008	8.658e-05	7.251e-05	0.0003	0.0002	7.216e-05	0	0.0001	0	0	0	0	0.0002	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1592.94	34	chr17	75625888	.	G	GTGC	1592.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.07;DP=803;ExcessHet=0.0000;FS=8.585;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.95;ReadPosRankSum=0.126;SOR=1.601	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1442	20	0	1	0
chr17	75628217	75628217	C	T	splicing	RECQL5	NM_004259:exon18:c.2805+1G>A	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.447	23.7	5.38	2.513	6.646	18.110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.841e-07	1.362e-06	0	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.396905	0.89735	D	0.33235	0.89606	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	6.286587	0.94947	34	0.99565480950987217	0.72075	0.94209	0.60445	D	AEFDGBHCI	.	.	.	1.12531270778575	0.98576	18.68256	0.973792048475384	0.98052	17.321	0.999999999999964	0.74766	0.184171	0.03992	0	0.221468	0.04790	0	0.129117	0.03641	0	0.082385	0.02281	0	0.983234	0.89903	5.38	5.38	0.77279	6.503000	0.73611	7.630000	0.62690	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.940000	0.48062	0.0:1.0:0.0:0.0	18.110	0.89462	976	0.04745	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1253.98	36	chr17	75628217	.	C	T	1253.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.390e-01;DP=884;ExcessHet=0.0000;FS=2.988;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.84;ReadPosRankSum=-2.230e-01;SOR=1.000	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1130	20	0	1	0
chr17	75629133	75629133	T	A	exonic	RECQL5	.	nonsynonymous SNV	RECQL5:NM_004259:exon16:c.A2290T:p.I764F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	1.0	D	0.004	N	1.000	D	2.095	M	0.44	T	-0.404	T	0.318	T	0.698	2.690	14.96	5.09	2.129	5.495	14.215	0.314	0.0422924203696	0.0002	.	0.0003	0	0.0002	0	0	0.0005	0	0	0.0002458	38	154602	rs201921330	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0001	0.0003	0.0002	2.987e-05	0.0002	0.0064	0	0	0.0009	3.867e-05	0.0004	0	0.0002	0.0002	0.0002	0.0003	0.0007	0.0002	0.0002	0.0004	0.0003	0	0	0.0007	0.0060	0	0	0	7.35e-05	0	0	0.0	0.91255	D	0.097	0.39190	T	1.0	0.90584	D	1.0	0.97372	D	0.004046	0.34172	N	0.281753	0.999983	0.54805	D	1.935	0.51832	L	0.44	0.56609	T	-0.8	0.22078	N	0.682	0.68863	-0.4039	0.71904	T	0.318	0.68735	T	10	0.009247661	0.00209	T	0.042292	0.60388	D	0.314	0.63588	.	.	0.793893798558	0.79198	0.45328409288805116	0.45246	0.7053372141	0.61386	0.549027383327	0.45721	T	0.304608	0.67690	T	-0.0843768	0.39000	T	-0.0742644	0.65321	T	0.0859501244627405	0.10730	T	0.850515	0.53399	D	0.38096702	0.59386	0.31508785	0.57496	0.38096702	0.59386	0.31508785	0.57496	-8.017	0.61186	D	.	.	0.658	0.72165	P	.;.;.	.;.;.	4.423576	0.68532	25.2	0.92295829216335123	0.21685	0.98920	0.88639	D	AEFBI	0.595043	0.58975	D	0.537019012088588	0.69294	5.336741	0.447136483573293	0.64534	4.710654	0.999967386491922	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	5.09	5.09	0.68647	5.482000	0.66555	6.082000	0.53358	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:0.0:1.0	14.215	0.65329	976	0.04745	.;RecQ helicase-like 5|RecQ helicase-like 5;RecQ helicase-like 5|RecQ helicase-like 5	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1201.98	34	chr17	75629133	.	T	A	1201.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.38;DP=833;ExcessHet=0.0000;FS=0.804;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=-4.180e-01;SOR=0.830	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1130	20	0	1	0
chr17	75629433	75629433	A	T	exonic	RECQL5	.	nonsynonymous SNV	RECQL5:NM_004259:exon16:c.T1990A:p.C664S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.001	B	0.005	B	0.880	N	1.000	N	1.06	L	0.34	T	-1.021	T	0.079	T	0.323	-0.037	3.824	-0.13	-0.190	-0.796	0.745	0.126	0.010691953867	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1008681987	5.17e-06	5.472e-06	2.887e-06	7.564e-06	0.0002	2.15e-06	1.38e-06	1.38e-06	1e-06	0	0	0	0	0	0.0002	4.716e-06	1.795e-05	0	6.569e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.532	0.06980	T	0.509	0.10857	T	0.0	0.02946	B	0.002	0.06944	B	0.879624	0.08764	N	0.953388	1	0.08975	N	1.12	0.28775	L	0.34	0.58176	T	0.93	0.01551	N	0.123	0.11483	-1.0208	0.23454	T	0.079	0.31496	T	10	0.1940214	0.35195	T	0.010692	0.27515	T	0.126	0.34673	0.719	0.85408	0.299427821978	0.29548	0.24094781017554406	0.24008	0.143490453161	0.16199	0.217009395361	0.01144	T	0.051448	0.33189	T	-0.150916	0.28168	T	-0.454557	0.27194	T	0.0584433745175636	0.06921	T	0.389261	0.16117	T	0.021816423	0.00805	0.03208841	0.01891	0.021816423	0.00805	0.03208841	0.01891	-1.429	0.01704	T	.	.	0.093	0.34514	B	.;.;.;.	.;.;.;.	-0.942887	0.00856	0.030	0.73140298154358452	0.10221	0.05783	0.11717	N	AEFGBHCI	0.054380	0.09882	N	-1.46641580253932	0.02091	0.09197066	-1.45371790578322	0.02737	0.1264167	0.741874941700882	0.23225	0.732398	0.92422	0	0.743671	0.97443	0	0.635938	0.45252	0	0.683762	0.67416	0	.	.	4.96	-0.13	0.12839	-0.806000	0.04632	0.189000	0.15722	-1.264000	0.01288	0.000000	0.06391	0.002000	0.18203	0.016000	0.10718	0.4549:0.1714:0.1594:0.2142	0.745	0.00917	976	0.04745	.;RecQ helicase-like 5|RecQ helicase-like 5;RecQ helicase-like 5|RecQ helicase-like 5;RecQ helicase-like 5|RecQ helicase-like 5	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2586.08	78	chr17	75629433	.	A	T	2586.08	.	AC=2;AF=0.048;AN=42;DP=1472;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.73;SOR=0.763	GT:AD:DP:GQ:PL	0/0:96,0:96:99:0,120,1800	20	1	0	0
chr17	75631162	75631162	C	T	exonic	RECQL5	.	nonsynonymous SNV	RECQL5:NM_004259:exon10:c.G1536A:p.M512I,	.	.	398	1121	3	0	0	3	0.0013363	.	.	3214151	RECQL5-related_disorder	.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.949	P	0.694	P	0.000	D	1.000	D	2.075	M	0.39	T	-0.671	T	0.236	T	0.636	2.858	15.52	4.66	2.692	5.455	14.565	0.159	0.0153486284824	0.0008	0.000199681	0.0006	0.0001	8.652e-05	0	0	0.0010	0	0.0001	0.0006727	104	154602	rs201834853	0.0014	0.0014	0.0015	0.0014	0.0017	0.0014	0.0013	0.0017	0.0017	0.0002	6.709e-05	0.0001	0	5.65e-05	0.0002	0.0017	0.0016	0.0002	0.0008	0.0008	0.0010	0.0007	0.0017	0.0007	0.0007	0.0015	0.0014	7.215e-05	0	0.0002	0	0	0	0	0.0017	0.0009	0	0.022	0.48642	D	0.051	0.48080	T	0.949	0.53761	P	0.694	0.53938	P	0.000003	0.62929	D	0.131699	0.999998	0.58761	D	2.095	0.58118	M	0.13	0.60973	T	-1.12	0.28906	N	0.673	0.70615	-0.6713	0.61770	T	0.236	0.60343	T	10	0.05673939	0.12021	T	0.015349	0.36031	T	0.159	0.41286	0.569	0.69167	0.743485017823	0.74118	0.4831308683714124	0.48233	0.246144050669	0.27147	0.550507009029	0.45929	T	0.203339	0.56178	T	-0.253023	0.13731	T	-0.142702	0.59883	T	0.13343919813633	0.15696	T	0.872113	0.65058	D	0.25591484	0.48628	0.24081837	0.49464	0.25591484	0.48628	0.24081837	0.49463	-5.377	0.48069	T	.	.	0.818	0.78138	P	.;.;.	.;.;.	4.599658	0.72836	25.9	0.98438028722424875	0.41475	0.96937	0.71758	D	AEFBI	0.587317	0.58501	D	0.56694092762604	0.71121	5.602845	0.594933006809009	0.74573	6.160492	0.997586602585242	0.35786	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.69	4.66	0.57857	5.759000	0.68437	7.588000	0.61163	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.1467:0.8533:0.0:0.0	14.565	0.67760	975	0.05339	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	668.98	45	chr17	75631162	.	C	T	668.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.650;DP=872;ExcessHet=0.0000;FS=0.971;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=1.21;SOR=0.730	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr17	75666451	75666451	C	G	exonic	RECQL5	.	nonsynonymous SNV	RECQL5:NM_001003715:exon2:c.G107C:p.S36T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.166	B	0.21	B	0.095	N	0.999	N	0.18	N	2.46	T	-0.971	T	0.106	T	0.243	1.838	12.11	-0.012	0.096	0.802	10.469	0.025	0.0193574788334	.	.	1.648e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs746223130	2.736e-06	2.736e-06	1.361e-06	4.125e-06	2.319e-05	6.4e-07	4.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	8.993e-07	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.32610	T	0.494	0.27591	T	0.011	0.20350	B	0.063	0.27082	B	0.094659	0.20162	N	0.597033	0.999372	0.22091	N	0.445	0.12748	N	0.14	0.60854	T	-0.99	0.28497	N	0.391	0.43223	-0.9710	0.36988	T	0.106	0.38808	T	10	0.106915206	0.19835	T	0.019357	0.41701	T	0.025	0.05312	0.47	0.54376	0.466740653422	0.46302	0.30454611042226865	0.30367	0.133079155338	0.14984	0.37703371048	0.21835	T	0.096291	0.39795	T	-0.262652	0.12591	T	-0.43353	0.29536	T	0.0606179311871529	0.07267	T	0.813919	0.46746	T	0.1968828	0.41533	0.16938436	0.38968	0.1968828	0.41532	0.16938436	0.38967	-2.76	0.27011	T	.	.	0.079	0.13315	B	.;.;.;.;.;.	.;.;.;.;.;.	2.521648	0.32586	19.09	0.81516498457087883	0.13724	0.70266	0.34520	D	AEFBI	0.260439	0.37859	N	-0.722388114617533	0.15393	0.7753734	-0.596755674345711	0.19577	1.050985	0.999369618662762	0.39301	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.41	-0.0122	0.13314	0.892000	0.27957	0.615000	0.20071	-0.173000	0.11020	0.739000	0.29016	0.124000	0.22932	0.946000	0.48989	0.0:0.5297:0.0:0.4703	10.469	0.43808	976	0.04745	.;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1056.98	36	chr17	75666451	.	C	G	1056.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.620e-01;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=-1.065e+00;SOR=0.637	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1238	20	0	1	0
chr17	75703827	75703827	G	T	exonic	SAP30BP	.	nonsynonymous SNV	SAP30BP:NM_001301839:exon7:c.G521T:p.G174V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.099	B	0.098	B	0.000	D	1.000	D	1.685	L	.	.	-0.739	T	0.286	T	0.95	3.551	18.11	6.06	2.879	7.100	20.624	0.354	0.00672515290798	0.0002	.	0.0003	0	0.0002	0	0	0.0005	0	0	0.0002523	39	154602	rs140022461	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	6.092e-05	3.952e-05	2.987e-05	0.0001	0.0063	0	0	0.0003	3.238e-05	0.0004	0	0.0002	0.0002	0.0002	0.0002	5.88e-05	0.0001	9.702e-05	1.972e-05	1.124e-05	0	0	0	0.0061	0	0	0	5.88e-05	0	0	.	.	.	0.317	0.19304	T	0.056	0.25639	B	0.098	0.30479	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.905	0.50856	L	.	.	.	.	.	.	0.631	0.64478	-0.7387	0.58519	T	0.286	0.65831	T	9	0.021247566	0.00505	T	0.006725	0.17756	T	0.354	0.67510	.	.	0.653626395709	0.65074	0.8560618702833002	0.85569	1.80745962536	0.91753	0.817253053188	0.84606	D	0.199115	0.55631	T	0.260941	0.79616	D	0.392093	0.91851	D	0.125973689408287	0.15005	T	0.958204	0.86318	D	0.29267037	0.52240	0.3576063	0.61251	0.29267037	0.52240	0.3576063	0.61251	-8.108	0.61805	D	.	.	0.713	0.75377	P	.;.;.;.	.;.;.;.	4.931355	0.81311	27.5	0.98688108439833599	0.44723	0.95919	0.66721	D	ALL	0.937038	0.93424	D	0.244380027022423	0.53361	3.505352	0.430046903648988	0.63447	4.578412	1.0	0.98316	0.730579	0.87903	0	0.702456	0.74545	0	0.702456	0.68683	0	0.648885	0.59868	0	.	.	6.06	6.06	0.98340	7.268000	0.77870	11.787000	0.96267	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.624	0.99515	976	0.04745	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1831.98	34	chr17	75703827	.	G	T	1831.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.201e+00;DP=841;ExcessHet=0.0000;FS=4.937;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=-1.485e+00;SOR=0.415	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1083	20	0	1	0
chr17	75740816	75740818	CTC	-	exonic	ITGB4	.	nonframeshift deletion	ITGB4:NM_001005619:exon21:c.2574_2576del:p.S859del	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	1	1518	3	0	0	3	0.000987167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	0	4.127e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2507.94	35	chr17	75740815	.	TCTC	T	2507.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.540e-01;DP=849;ExcessHet=0.0000;FS=1.296;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.83;ReadPosRankSum=0.974;SOR=0.797	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1126	20	0	1	0
chr17	75749023	75749030	CACCATCA	-	exonic	ITGB4	.	frameshift deletion	ITGB4:NM_001005619:exon26:c.3294_3301del:p.T1099Hfs*6	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	148.94	38	chr17	75749022	.	CCACCATCA	C	148.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.812e+00;DP=820;ExcessHet=0.0000;FS=59.984;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.33;ReadPosRankSum=1.49;SOR=5.546	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,108,1132	20	0	1	0
chr17	75749023	75749023	C	0	exonic	ITGB4	.	.	.	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	718.03	79	chr17	75749023	.	C	T,*	718.03	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=-5.624e+00;DP=1348;ExcessHet=0.1072;FS=217.263;InbreedingCoeff=-0.1201;MLEAC=1,1;MLEAF=0.031,0.031;MQ=60.00;MQRankSum=0.00;QD=2.92;ReadPosRankSum=4.14;SOR=7.903	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:82,0,0:82:0:.:.:0,0,1649,0,1649,1649	14	0	1	5
chr17	75749025	75749025	C	G	exonic	ITGB4	.	nonsynonymous SNV	ITGB4:NM_001005619:exon26:c.C3296G:p.T1099S	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.967	D	0.763	P	0.000	D	0.998	D	0.975	L	1.41	T	-1.056	T	0.091	T	0.272	0.604	7.256	4.26	1.192	2.964	10.148	0.068	0.0303834520516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.424e-05	0.0015	9.185e-05	7.66e-05	9.909e-05	7.176e-05	6.712e-05	8.354e-05	7.787e-05	9.227e-05	0	0	0	0	0	9.909e-05	8.496e-05	5.863e-05	3.31e-05	6.589e-05	1.294e-05	5.42e-05	0.0002	1.268e-05	8.03e-06	4.91e-06	1.84e-06	2.421e-05	0	0	0	0	9.634e-05	0	2.956e-05	0	0.0002	0.002	0.72154	D	0.01	0.66756	D	0.902	0.56408	P	0.585	0.56556	P	0.000127	0.49741	D	0.135690	0.99842	0.44899	D	1.7	0.43825	L	1.41	0.33412	T	-1.84	0.43149	N	0.548	0.57433	-1.0563	0.12698	T	0.091	0.34820	T	10	0.48247474	0.60513	T	0.030383	0.52709	D	0.068	0.19811	0.275	0.22687	0.769952734743	0.76784	0.5578496369941545	0.55711	0.292936544315	0.31716	0.440746605396	0.30679	T	0.17119	0.51922	T	-0.14281	0.29444	T	-0.442913	0.28482	T	0.830028891563416	0.48532	D	0.711829	0.32778	T	0.48351398	0.66113	0.23997939	0.49361	0.48351398	0.66113	0.23997939	0.49360	-5.715	0.44338	T	0.5097648672697275	0.58368	0.123	0.25882	B	.;.;.;.	.;.;.;.	3.029679	0.40581	21.2	0.38500852697330945	0.02600	0.97196	0.73256	D	AEFBI	0.571759	0.57561	D	0.0815504541283303	0.45603	2.814062	0.0276339862330141	0.41003	2.45617	0.997117847965658	0.35288	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.562822	0.20929	0	.	.	5.24	4.26	0.49832	3.022000	0.49342	5.871000	0.50535	0.596000	0.33519	0.993000	0.37899	1.000000	0.68203	0.026000	0.12556	0.0:0.7874:0.1385:0.0741	10.148	0.41952	970	0.06235	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1875	1195.72	80	chr17	75749025	.	C	G,*	1195.72	.	AC=2,1;AF=0.125,0.063;AN=16;BaseQRankSum=-3.858e+00;DP=1686;ExcessHet=0.3300;FS=363.745;InbreedingCoeff=-0.2923;MLEAC=4,2;MLEAF=0.250,0.125;MQ=60.00;MQRankSum=0.00;QD=3.49;ReadPosRankSum=3.95;SOR=8.789	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:76,0,0:76:0:.:.:0,0,1146,0,1146,1146	5	0	2	13
chr17	75749025	75749025	C	0	exonic	ITGB4	.	.	.	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	1195.72	80	chr17	75749025	.	C	G,*	1195.72	.	AC=2,1;AF=0.125,0.063;AN=16;BaseQRankSum=-3.858e+00;DP=1686;ExcessHet=0.3300;FS=363.745;InbreedingCoeff=-0.2923;MLEAC=4,2;MLEAF=0.250,0.125;MQ=60.00;MQRankSum=0.00;QD=3.49;ReadPosRankSum=3.95;SOR=8.789	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:76,0,0:76:0:.:.:0,0,1146,0,1146,1146	5	0	2	13
chr17	75749026	75749026	C	0	exonic	ITGB4	.	.	.	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1267.21	80	chr17	75749026	.	C	G,*	1267.21	.	AC=2,1;AF=0.111,0.056;AN=18;BaseQRankSum=-3.986e+00;DP=1663;ExcessHet=0.3300;FS=369.875;InbreedingCoeff=-0.2730;MLEAC=3,2;MLEAF=0.167,0.111;MQ=60.00;MQRankSum=0.00;QD=3.60;ReadPosRankSum=4.10;SOR=8.838	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:76,0,0:76:0:.:.:0,0,1146,0,1146,1146	6	0	2	12
chr17	75749027	75749027	A	G	exonic	ITGB4	.	nonsynonymous SNV	ITGB4:NM_001005619:exon26:c.A3298G:p.I1100V	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	0.001	B	0.005	B	0.065	N	1.000	N	-0.255	N	1.86	T	-0.961	T	0.021	T	0.111	-0.309	2.530	-1.46	-0.019	0.434	10.078	0.009	0.0093230332651	.	.	8.858e-06	0	0	0	0	0	0	6.332e-05	6.5e-06	1	154602	rs754732749	7.125e-06	0.0003	8.531e-06	5.712e-06	3.103e-05	3.6e-06	2.63e-06	3.9e-06	1.76e-06	3.103e-05	0	0	0	0	0	6.562e-06	0	2.349e-05	0	6.661e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.849	0.02746	T	0.809	0.04181	T	0.0	0.07471	B	0.002	0.11217	B	0.065166	0.21900	N	0.445414	0.999584	0.20930	N	-1.15	0.00907	N	1.86	0.24285	T	-0.03	0.07444	N	0.247	0.30233	-0.9613	0.38936	T	0.021	0.08824	T	10	0.033866435	0.01575	T	0.009323	0.24459	T	0.009	0.00846	0.347	0.34274	0.238705975628	0.23479	0.35367653431977275	0.35281	0.239067160317	0.26460	0.284727245569	0.08161	T	0.053934	0.29583	T	-0.388524	0.02750	T	-0.695234	0.06090	T	0.0165865860176989	0.00419	T	0.564644	0.19916	T	0.041757572	0.06208	0.027220517	0.00859	0.041757572	0.06208	0.027220517	0.00859	-3.025	0.10719	T	0.07366712146606559	0.03127	0.061	0.02285	B	.;.;.;.	.;.;.;.	-0.703055	0.01314	0.071	0.21339881658324758	0.00809	0.01218	0.04323	N	AEFBI	0.107465	0.21410	N	-1.52727890269447	0.01672	0.07316043	-1.46805690100194	0.02610	0.1203548	0.806248547502662	0.24275	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.562822	0.20929	0	.	.	5.24	-1.46	0.08338	0.466000	0.21731	-0.520000	0.08695	-1.306000	0.01239	0.111000	0.23011	0.000000	0.08366	0.026000	0.12556	0.5122:0.0:0.4878:0.0	10.078	0.41546	970	0.06235	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1875	1272.43	80	chr17	75749027	.	A	G,*	1272.43	.	AC=2,1;AF=0.125,0.063;AN=16;BaseQRankSum=-2.281e+00;DP=1730;ExcessHet=0.3300;FS=368.723;InbreedingCoeff=-0.3049;MLEAC=4,2;MLEAF=0.250,0.125;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=3.98;SOR=8.838	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:76,0,0:76:0:.:.:0,0,1146,0,1146,1146	5	0	2	13
chr17	75749027	75749027	A	0	exonic	ITGB4	.	.	.	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	1272.43	80	chr17	75749027	.	A	G,*	1272.43	.	AC=2,1;AF=0.125,0.063;AN=16;BaseQRankSum=-2.281e+00;DP=1730;ExcessHet=0.3300;FS=368.723;InbreedingCoeff=-0.3049;MLEAC=4,2;MLEAF=0.250,0.125;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=3.98;SOR=8.838	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:76,0,0:76:0:.:.:0,0,1146,0,1146,1146	5	0	2	13
chr17	75749030	75749030	-	TGGGGTTG	exonic	ITGB4	.	frameshift insertion	ITGB4:NM_001005619:exon26:c.3301_3302insTGGGGTTG:p.I1101Mfs*62	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	157.94	41	chr17	75749030	.	A	ATGGGGTTG	157.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.129e+00;DP=903;ExcessHet=0.0000;FS=61.307;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.45;ReadPosRankSum=2.02;SOR=5.546	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,108,1620	20	0	1	0
chr17	75758221	75758221	G	A	exonic	GALK1	.	nonsynonymous SNV	GALK1:NM_000154:exon7:c.C1096T:p.R366W	Galactokinase deficiency with cataracts, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	329950	Deficiency_of_galactokinase	MONDO:MONDO:0009255,MedGen:C0268155,OMIM:230200,Orphanet:352,Orphanet:79237	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.696	P	0.059	B	.	.	0.996	N	1.975	M	-2.94	D	-0.170	T	0.615	D	0.199	3.166	16.59	2.32	1.078	0.950	9.876	0.349	0.265150111276	.	0.000199681	9.526e-05	0.0002	0.0002	0	0	0.0001	0	0	5.82e-05	9	154602	rs536478616	8.467e-05	8.756e-05	8.212e-05	8.725e-05	0.0002	7.248e-05	6.792e-05	8.413e-05	7.828e-05	0.0001	4.613e-05	0	2.536e-05	1.965e-05	0.0002	9.921e-05	1.667e-05	2.344e-05	0.0001	0.0001	0.0001	8.054e-05	0.0002	7.085e-05	5.743e-05	0.0001	7.896e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.046	0.40573	D	0.012	0.64786	D	0.696	0.41742	P	0.059	0.26602	B	.	.	.	.	0.999315	0.23185	N	2.145	0.60081	M	-2.94	0.91851	D	-2.83	0.59710	D	0.171	0.18376	-0.1698	0.78433	T	0.615	0.86376	D	9	0.3385796	0.50960	T	0.26515	0.89663	D	0.349	0.67049	.	.	0.953867566197	0.95337	0.5543791985990562	0.55364	0.417087851708	0.42336	0.244519323111	0.03213	T	0.934914	0.98929	D	-0.185044	0.22988	T	-0.248533	0.49961	T	0.137586485776006	0.16064	T	0.423058	0.11694	T	0.5932012	0.72324	0.51701236	0.72094	0.5932012	0.72325	0.51701236	0.72094	-9.204	0.69000	D	0.3194976588968587	0.41761	0.162	0.36416	B	.;.;.	.;.;.	3.245961	0.44328	21.9	0.99858929871358404	0.93729	0.89675	0.50292	D	AEFDBHCI	0.832403	0.75078	D	-0.0278177561598689	0.40599	2.413754	-0.0195497678558772	0.38832	2.293576	0.999824879852608	0.43622	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.47	2.32	0.27895	1.094000	0.30563	1.933000	0.29783	-0.107000	0.15377	0.995000	0.38783	1.000000	0.68203	0.775000	0.36711	0.0:0.1316:0.6011:0.2673	9.876	0.40369	970	0.06235	GHMP kinase, C-terminal domain;GHMP kinase, C-terminal domain;GHMP kinase, C-terminal domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1150.98	41	chr17	75758221	.	G	A	1150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.936;DP=821;ExcessHet=0.0000;FS=3.178;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.35;ReadPosRankSum=-4.110e-01;SOR=1.179	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1126	20	0	1	0
chr17	75816856	75816856	G	A	exonic	UNK	.	nonsynonymous SNV	UNK:NM_001080419:exon8:c.G1048A:p.A350T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.999	D	0.959	D	0.011	N	1.000	D	0.755	N	.	.	-0.715	T	0.260	T	0.623	3.191	16.68	4.94	2.733	6.154	18.739	0.150	0.00383437944931	0.0003	.	0.0005	0	0.0001	0	0.0010	0.0007	0	0.0006	0.000414	64	154602	rs201667287	0.0003	0.0003	0.0002	0.0003	0.0007	0.0002	0.0002	0.0005	0.0005	8.971e-05	8.978e-05	3.835e-05	0	0.0005	0.0005	0.0002	0.0002	0.0007	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	4.831e-05	0	6.545e-05	0	0	0.0003	0	0.0003	0	0.0004	.	.	.	0.67	0.06305	T	0.999	0.77913	D	0.959	0.70163	D	0.010996	0.29704	N	0.377447	0.999998	0.58761	D	0.345	0.11182	N	.	.	.	.	.	.	0.608	0.62526	-0.7147	0.59722	T	0.260	0.63077	T	9	0.1930187	0.35054	T	0.003834	0.08961	T	.	.	.	.	0.138757226776	0.13463	0.47185551717078617	0.47104	0.381255657936	0.39490	0.755450367928	0.75253	T	0.058524	0.30865	T	-0.17994	0.23744	T	-0.11552	0.62168	T	0.107448245181087	0.13157	T	0.865513	0.56452	D	0.117643334	0.27731	0.16091686	0.37456	0.117643334	0.27731	0.16091686	0.37455	-3.746	0.20000	T	.	.	0.084	0.09868	B	.	.	3.650500	0.51811	23.1	0.99706523812606629	0.81005	0.96523	0.69565	D	AEFBI	0.641828	0.61902	D	0.550497562224471	0.70111	5.453993	0.574657295014333	0.73129	5.920104	0.999992304458485	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.94	4.94	0.64645	6.277000	0.72632	11.824000	0.97325	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.802000	0.37819	0.0:0.0:1.0:0.0	18.739	0.91732	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2097.08	36	chr17	75816856	.	G	A	2097.08	.	AC=2;AF=0.048;AN=42;DP=846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.39;SOR=0.910	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,117,1755	20	1	0	0
chr17	75839879	75839879	C	T	exonic	UNC13D	.	nonsynonymous SNV	UNC13D:NM_199242:exon12:c.G1015A:p.A339T,	Hemophagocytic lymphohistiocytosis, familial, 3	.	0	1519	3	0	0	3	0.000986518	.	.	2360565	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	1.0	D	1.0	D	0.000	D	1.000	D	2.16	M	-1.15	T	0.231	D	0.589	D	0.652	4.397	23.3	3.46	1.073	4.460	13.915	0.565	0.193890247471	.	.	8.308e-06	0	0	0	0	1.517e-05	0	0	3.23e-05	5	154602	rs781050501	2.463e-05	2.463e-05	2.314e-05	2.613e-05	8.961e-05	1.803e-05	1.6e-05	2.374e-05	1.304e-05	8.961e-05	2.236e-05	0	0	1.879e-05	0	2.248e-05	3.311e-05	4.637e-05	4.602e-05	4.597e-05	3.855e-05	5.383e-05	0.0001	2.11e-05	1.527e-05	6.286e-05	4.301e-05	0.0001	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.25	0.63811	M	-1.15	0.78314	T	-3.38	0.66780	D	0.731	0.73195	0.231	0.86436	D	0.589	0.85298	D	10	0.8459654	0.83762	D	0.19389	0.86330	D	0.565	0.82232	0.535	0.64439	0.887090354945	0.88598	0.4767044223446271	0.47590	0.387447643951	0.40021	0.608565330505	0.54113	T	0.669988	0.90194	D	-0.0233967	0.48367	T	-0.0347156	0.68055	D	0.820233941078186	0.47790	D	0.90121	0.65680	D	0.3904877	0.60067	0.41518292	0.65640	0.3904877	0.60067	0.41518292	0.65640	-6.829	0.52774	T	0.6422218597834943	0.71311	0.313	0.53959	B	.;.	.;.	4.148068	0.62199	24.4	0.99923218761500265	0.98917	0.94246	0.60559	D	AEFBI	0.608566	0.59810	D	0.488265879299318	0.66402	4.945657	0.395362043384714	0.61278	4.325759	0.801901713156838	0.24201	0.631515	0.41029	0	0.697927	0.68747	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.43	3.46	0.38718	4.689000	0.61410	5.957000	0.51754	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.382000	0.26379	0.1532:0.8468:0.0:0.0	13.915	0.63397	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1273.98	33	chr17	75839879	.	C	T	1273.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.700e-02;DP=805;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=0.763;SOR=0.715	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1280	20	0	1	0
chr17	75904860	75904860	A	G	exonic	MRPL38	.	nonsynonymous SNV	MRPL38:NM_032478:exon1:c.T16C:p.W6R,	.	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.679	P	0.146	B	0.216	U	1.000	D	1.61	L	1.55	T	-1.093	T	0.056	T	0.546	2.447	14.14	3.36	0.739	0.615	6.069	0.151	0.360057109932	.	0.000998403	0.0018	0	0	0	0	0.0040	0.0086	0.0010	0.0004269	66	154602	rs566150682	0.0047	0.0045	0.0048	0.0047	0.0042	0.0046	0.0046	0.0041	0.0040	0.0004	0.0013	0.0038	3.224e-05	0.0474	0.0015	0.0042	0.0046	0.0007	0.0067	0.0067	0.0049	0.0086	0.0063	0.0063	0.0062	0.0058	0.0056	0.0007	0	0.0013	0.0039	0	0.0567	0	0.0063	0.0057	0.0009	0.029	0.45756	D	0.033	0.53072	D	0.679	0.41373	P	0.146	0.33945	B	0.216012	0.16251	U	0.353696	1	0.81001	D	2.3	0.65703	M	1.55	0.29866	T	-0.41	0.14000	N	0.417	0.45709	-1.0928	0.05082	T	0.056	0.23565	T	10	0.006161213	0.00139	T	0.360057	0.92489	D	0.151	0.39764	0.666	0.80401	0.219573609325	0.21563	0.3582979833173833	0.35743	0.732726945152	0.62802	0.755910933018	0.75321	T	0.007621	0.07015	T	-0.409516	0.02002	T	-0.349342	0.39280	T	0.0787164563936236	0.09821	T	0.590841	0.21745	T	0.25623605	0.48662	0.23441918	0.48658	0.25623605	0.48662	0.23441918	0.48657	-2.028	0.03288	T	.	.	0.437	0.61567	A	.	.	2.307293	0.29529	18.15	0.97363928222197305	0.33588	0.08830	0.14700	N	AEFGBHCIJ	0.165388	0.29187	N	-0.382858359099233	0.26079	1.420604	-0.393484089551366	0.25190	1.38383	0.999999999999799	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.44	3.36	0.37579	1.277000	0.32772	3.605000	0.39235	0.651000	0.53179	0.951000	0.33123	1.000000	0.68203	0.070000	0.16646	0.6017:0.3138:0.0845:0.0	6.069	0.19105	839	0.37672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	222.98	31	chr17	75904860	.	A	G	222.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.980e-01;DP=539;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.87;ReadPosRankSum=0.689;SOR=0.418	GT:AD:DP:GQ:PL	0/0:31,0:31:93:0,93,898	20	0	1	0
chr17	75917943	75917943	C	T	exonic	FBF1	.	nonsynonymous SNV	FBF1:NM_001319193:exon21:c.G2374A:p.E792K,	.	.	424	1079	19	0	0	19	0.00872761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.067	B	0.015	B	.	.	0.572	N	0.55	N	2.09	T	-1.010	T	0.027	T	0.173	2.230	13.41	-1.05	-0.022	0.434	7.778	0.017	.	0.0007	0.00579073	0.0054	0.0002	0.0016	0	0	0.0014	0.0051	0.0309	0.0033505	518	154602	rs200931077	0.0020	0.0020	0.0014	0.0026	0.0229	0.0019	0.0019	0.0220	0.0217	0.0001	0.0008	0.0079	2.535e-05	1.921e-05	0.0049	0.0005	0.0029	0.0229	0.0014	0.0014	0.0011	0.0017	0.0251	0.0012	0.0012	0.0214	0.0201	0.0001	0	0.0008	0.0063	0	0	0.0068	0.0006	0.0028	0.0251	.	.	.	0.242	0.24264	T	0.067	0.23653	B	0.015	0.17295	B	.	.	.	.	0.571568	0.31174	N	0.83	0.20963	L	2.07	0.20387	T	.	.	.	0.21	0.23380	-1.0096	0.27043	T	0.027	0.11663	T	9	0.0032892823	0.00056	T	.	.	.	.	.	.	.	0.178374595973	0.17440	0.526060498412847	0.52530	.	.	0.384982585907	0.22961	T	0.035175	0.23617	T	-0.584967	0.00180	T	-0.595456	0.13196	T	0.0109724181880645	0.00158	T	0.878912	0.59457	D	0.028503684	0.02197	0.09198557	0.21655	0.028503684	0.02196	0.09198557	0.21654	-9.338	0.71400	D	.	.	0.083	0.09143	B	.;.;.	.;.;.	1.349720	0.17571	13.24	0.99304965169442605	0.58759	0.22981	0.21927	N	AEFBHCI	0.092865	0.18795	N	-0.878510925890006	0.11355	0.547524	-0.857239898997625	0.13114	0.6784976	3.55692540363587E-4	0.06668	0.700653	0.57754	0	0.588015	0.36545	0	0.717052	0.78885	0	0.567892	0.33627	0	.	.	5.29	-1.05	0.09523	0.509000	0.22414	-0.186000	0.11084	0.587000	0.30956	0.061000	0.21800	0.000000	0.08366	0.596000	0.31288	0.0:0.5678:0.2175:0.2147	7.778	0.28214	828	0.39726	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	886.98	36	chr17	75917943	.	C	T	886.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=776;ExcessHet=0.0000;FS=2.656;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.10;ReadPosRankSum=-3.100e-02;SOR=0.382	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1169	20	0	1	0
chr17	75991600	75991600	T	A	exonic	TEN1	.	nonsynonymous SNV	TEN1:NM_001113324:exon3:c.T227A:p.L76H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.976	D	0.001	U	1.000	D	1.845	L	.	.	-0.111	T	0.333	T	0.9	3.311	17.13	5.2	2.096	5.276	13.581	0.492	0.0438968889457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	.	.	.	.	.	.	0.000765	0.41888	U	0.000000	0.66037	0.81001	D	2.83	0.82355	M	.	.	.	-6.26	0.90608	D	0.886	0.88466	-0.1105	0.79856	T	0.333	0.70043	T	9	0.88374996	0.87694	D	0.043897	0.61216	D	0.492	0.77847	.	.	0.245101548738	0.24120	0.8828770626978398	0.88255	.	.	.	.	.	0.332305	0.70229	T	0.406376	0.90279	D	0.345954	0.90157	D	0.956735193729401	0.64832	D	.	.	.	0.7579091	0.81330	0.7047212	0.82594	0.7579091	0.81331	0.7047212	0.82595	-9.763	0.72480	D	.	.	0.826	0.78536	P	.	.	3.768015	0.54107	23.4	0.98426456276621321	0.41343	0.95243	0.63969	D	AEFDBI	0.579945	0.58055	D	0.540927760007335	0.69532	5.370235	0.483115440172343	0.66872	5.008867	0.975243016747257	0.29615	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	4.872000	0.62744	7.538000	0.60033	0.609000	0.47794	0.615000	0.27871	1.000000	0.68203	0.209000	0.22154	0.0:0.0:0.0:1.0	13.581	0.61367	718	0.55760	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1768.98	44	chr17	75991600	.	T	A	1768.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.962e+00;DP=858;ExcessHet=0.0000;FS=4.674;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.71;ReadPosRankSum=-1.633e+00;SOR=0.366	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,114,1654	20	0	1	0
chr17	76008257	76008257	C	-	exonic	EVPL	.	frameshift deletion	EVPL:NM_001320747:exon22:c.5014delG:p.D1672Tfs*17	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1248634402	2.738e-06	2.736e-06	2.724e-06	2.752e-06	0.0003	6.4e-07	4.3e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1346.94	61	chr17	76008256	.	TC	T	1346.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.238;DP=843;ExcessHet=0.0000;FS=0.750;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.61;ReadPosRankSum=1.75;SOR=0.552	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1044	20	0	1	0
chr17	76008259	76008259	-	ACGAGA	exonic	EVPL	.	stopgain	EVPL:NM_001320747:exon22:c.5011_5012insTCTCGT:p.K1671_R2055delinsIS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1191445935	2.738e-06	2.736e-06	2.724e-06	2.752e-06	0.0003	6.4e-07	4.3e-07	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1388.94	61	chr17	76008259	.	T	TACGAGA	1388.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.720e-01;DP=841;ExcessHet=0.0000;FS=0.738;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=1.35;SOR=0.591	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1044	20	0	1	0
chr17	76008263	76008264	CG	-	exonic	EVPL	.	frameshift deletion	EVPL:NM_001320747:exon22:c.5007_5008del:p.K1671Gfs*73	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1396678033	2.739e-06	2.736e-06	2.725e-06	2.752e-06	0.0003	6.4e-07	4.3e-07	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1268.94	61	chr17	76008262	.	TCG	T	1268.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.157;DP=835;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=1.40;SOR=0.650	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1044	20	0	1	0
chr17	76008265	76008265	C	A	exonic	EVPL	.	nonsynonymous SNV	EVPL:NM_001320747:exon22:c.G5006T:p.R1669L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.072	B	0.017	B	0.769	N	1.000	N	1.61	L	-0.33	T	-0.885	T	0.185	T	0.232	0.490	6.658	-6.45	-0.975	0.018	7.788	0.119	0.0198530066722	.	.	.	.	.	.	.	.	.	.	.	.	.	rs780354838	2.739e-06	3.42e-06	2.725e-06	2.753e-06	0.0003	6.4e-07	4.3e-07	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	8.993e-07	1.656e-05	0	1.314e-05	1.313e-05	0	2.69e-05	4.823e-05	2.18e-06	8.2e-07	7.99e-06	2.99e-06	4.823e-05	0	0	0	0	0	0	0	0	0	0.07	0.35349	T	0.285	0.21343	T	0.016	0.17332	B	0.006	0.12133	B	0.769018	0.06586	N	1.116310	1	0.08975	N	2.015	0.55033	M	-0.33	0.68329	T	-3.67	0.70191	D	0.394	0.43514	-0.8855	0.49315	T	0.185	0.53466	T	10	0.10699695	0.19853	T	0.019853	0.42315	T	0.119	0.33137	0.229	0.15556	0.421674004627	0.41782	0.29626835537740853	0.29539	0.242101679886	0.26724	0.187229797244	0.00180	T	0.473962	0.80561	T	-0.140588	0.29797	T	-0.439721	0.28839	T	0.0563036989126868	0.06573	T	0.907909	0.67446	D	0.08864954	0.20687	0.20226793	0.44247	0.08864954	0.20686	0.20226793	0.44246	-5.211	0.39054	T	.	.	0.105	0.19276	B	.;.	.;.	-0.080958	0.03754	0.782	0.89964039397446238	0.19259	0.21420	0.21395	N	AEFDBI	0.428652	0.49209	N	-1.2176641859853	0.04744	0.2147439	-1.32173130607864	0.04150	0.1951475	0.988377905542845	0.31495	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.05	-6.45	0.01743	0.029000	0.13555	-2.135000	0.04161	-0.834000	0.02848	0.000000	0.06391	0.000000	0.08366	0.677000	0.33454	0.0:0.2639:0.1902:0.5459	7.788	0.28268	706	0.57215	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1274.98	61	chr17	76008265	.	C	A	1274.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.31;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=1.29;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1044	20	0	1	0
chr17	76008268	76008268	A	C	exonic	EVPL	.	nonsynonymous SNV	EVPL:NM_001320747:exon22:c.T5003G:p.L1668R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	1.0	D	0.992	D	0.000	D	1.000	D	2.135	M	-0.53	T	-0.111	T	0.494	T	0.844	3.105	16.37	5.05	1.899	9.300	14.793	0.525	0.0522802970551	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455456117	3.424e-06	3.42e-06	2.726e-06	4.129e-06	0.0003	1e-06	7.3e-07	6.096e-05	2.522e-05	0	2.236e-05	0	0	0	0.0003	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.112	0.37037	T	1.0	0.90584	D	0.992	0.80445	D	0.000002	0.62929	D	0.000000	0.999996	0.58761	D	2.93	0.84523	M	-0.53	0.70833	T	-3.03	0.62747	D	0.713	0.71587	-0.1111	0.79842	T	0.494	0.80830	T	10	0.7508799	0.75628	D	0.05228	0.65009	D	0.525	0.79886	0.24	0.17218	0.945249901596	0.94467	0.7434843245554097	0.74294	0.844234834031	0.68210	0.595748364925	0.52304	T	0.650612	0.89394	D	0.276847	0.81044	D	0.159895	0.80800	D	0.966147899627686	0.67490	D	0.962404	0.85901	D	0.58096594	0.71661	0.54128563	0.73488	0.58096594	0.71662	0.54128563	0.73489	-1.217	0.01275	T	.	.	0.183	0.40473	B	.;.	.;.	3.973498	0.58361	24.0	0.9971379931277734	0.81563	0.99789	0.99477	D	AEFDBI	0.955059	0.97263	D	0.644753546995303	0.76028	6.411798	0.5977739232578	0.74781	6.195606	0.999999993578554	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.05	5.05	0.67566	9.325000	0.96006	8.148000	0.76703	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.785000	0.37106	1.0:0.0:0.0:0.0	14.793	0.69482	706	0.57215	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1280.98	61	chr17	76008268	.	A	C	1280.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.480e-01;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=0.933;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1044	20	0	1	0
chr17	76010322	76010322	C	G	exonic	EVPL	.	nonsynonymous SNV	EVPL:NM_001320747:exon22:c.G2949C:p.E983D	.	.	401	1104	16	1	0	18	0.00808625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.979	D	0.604	P	0.000	D	0.517	N	2.14	M	-0.11	T	-0.399	T	0.205	T	0.182	3.404	17.50	2.57	1.051	1.200	10.756	0.161	0.0306489969412	0.0029	0.00279553	0.0045	0.0004	0.0014	0	0.0003	0.0055	0.0055	0.0093	0.0041397	640	154602	rs148533039	0.0038	0.0038	0.0036	0.0041	0.0121	0.0038	0.0037	0.0099	0.0090	0.0006	0.0015	0.0589	0	0.0002	0.0121	0.0024	0.0076	0.0093	0.0030	0.0030	0.0032	0.0027	0.0075	0.0027	0.0026	0.0055	0.0049	0.0005	0	0.0014	0.0527	0	0.0002	0.0136	0.0025	0.0047	0.0075	0.01	0.56456	D	0.026	0.55759	D	0.979	0.59044	D	0.604	0.50922	P	0.000065	0.52346	D	0.127911	0.51691	0.31601	N	2.83	0.82355	M	-0.11	0.64630	T	-2.03	0.46673	N	0.402	0.46180	-0.3992	0.72052	T	0.205	0.56362	T	10	0.004966855	0.00106	T	0.030649	0.52913	D	0.161	0.41658	0.117	0.02508	0.663968203398	0.66114	0.2623366917122307	0.26146	0.705443509024	0.61392	0.369297981262	0.20731	T	0.242154	0.61083	T	-0.375163	0.03341	T	-0.305275	0.44164	T	0.0653555037325935	0.07983	T	0.722728	0.33613	T	0.32339334	0.54925	0.34764948	0.60416	0.32339334	0.54925	0.34764948	0.60415	-6.028	0.46514	T	.	.	0.248	0.49693	B	.;.	.;.	3.331203	0.45857	22.2	0.99704804404606828	0.80867	0.90146	0.51096	D	AEFBI	0.615866	0.60265	D	0.279037752638346	0.55087	3.673053	0.239856434455143	0.52075	3.384824	0.469864391691247	0.20698	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.66	2.57	0.29928	1.225000	0.32154	1.089000	0.23963	0.583000	0.30283	1.000000	0.71638	0.471000	0.25053	0.987000	0.62547	0.0:0.767:0.0:0.233	10.756	0.45438	707	0.57054	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1234.98	44	chr17	76010322	.	C	G	1234.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.340e-01;DP=796;ExcessHet=0.0000;FS=0.779;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=-2.020e-01;SOR=0.605	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1044	20	0	1	0
chr17	76017851	76017851	C	T	exonic	EVPL	.	nonsynonymous SNV	EVPL:NM_001320747:exon14:c.G1664A:p.R555Q	.	.	423	1098	1	0	0	1	0.000455166	.	.	2347886	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.022	B	0.002	B	0.376	N	1.000	N	0.35	N	0.01	T	-0.980	T	0.092	T	0.055	0.827	8.333	-2.89	-0.429	-0.061	12.188	0.042	0.0132275582795	0.0003	.	0.0002	0.0002	8.663e-05	0.0001	0.0002	0.0001	0	0.0010	0.000194	30	154602	rs148670879	0.0001	0.0001	9.802e-05	0.0001	0.0006	9.536e-05	9.017e-05	0.0005	0.0005	5.974e-05	0.0001	0	7.557e-05	1.877e-05	0.0005	6.834e-05	0.0002	0.0006	9.196e-05	9.193e-05	0.0001	8.066e-05	0.0003	5.526e-05	4.363e-05	8.874e-05	5.384e-05	2.412e-05	0	0.0003	0	0	0	0	0.0001	0	0	0.518	0.07307	T	0.715	0.05434	T	0.008	0.14655	B	0.002	0.06944	B	0.375595	0.13463	N	0.714751	1	0.08975	N	-0.205	0.04094	N	0.01	0.62762	T	-0.31	0.12099	N	0.136	0.16586	-0.9795	0.35117	T	0.092	0.35201	T	10	0.020521015	0.00474	T	0.013228	0.32470	T	0.042	0.11227	.	.	0.314716216878	0.31082	0.055409354603118376	0.05481	0.21452012786	0.23985	0.193342387676	0.00290	T	0.08595	0.37616	T	-0.573556	0.00211	T	-0.64709	0.09160	T	0.00685284080327761	0.00077	T	0.490951	0.18022	T	0.028963035	0.02316	0.054091576	0.09236	0.028963035	0.02316	0.054091576	0.09236	-3.248	0.13076	T	.	.	0.063	0.03811	B	.;.	.;.	-0.000635	0.04276	1.068	0.93347027460177623	0.23079	0.07511	0.13526	N	AEFDBI	0.099232	0.19980	N	-1.23065619054583	0.04561	0.2061006	-1.14969600624976	0.06773	0.327179	0.00174666228405931	0.08839	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.88	-2.89	0.05326	0.054000	0.14087	-6.289000	0.01441	-2.004000	0.00446	0.000000	0.06391	0.000000	0.08366	0.635000	0.32288	0.0:0.4638:0.0:0.5362	12.188	0.53561	700	0.57880	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	673.98	34	chr17	76017851	.	C	T	673.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.566e+00;DP=751;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.06;ReadPosRankSum=2.10;SOR=0.759	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,921	20	0	1	0
chr17	76072413	76072413	-	ACCGCCGCCGCCACTGCC	exonic	SRP68	.	nonframeshift insertion	SRP68:NM_001260502:exon1:c.78_79insGGCAGTGGCGGCGGCGGT:p.G26_S27insGSGGGG	.	.	0	224	2	0	0	2	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	9.364e-05	0	0.0004	3.84e-05	1	26028	rs781272021	0.0003	0.0006	0.0003	0.0004	0.0011	0.0003	0.0003	0.0005	0.0003	0.0002	0.0004	0.0003	0.0002	0.0022	0.0011	0.0003	0.0006	0.0004	0.0011	0.0011	0.0009	0.0014	0.0021	0.0010	0.0009	0.0015	0.0013	0.0005	0	0.0021	0.0006	0.0008	0.0049	0.0069	0.0008	0.0014	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1404.94	34	chr17	76072413	.	T	TACCGCCGCCGCCACTGCC	1404.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.530e-01;DP=837;ExcessHet=0.0000;FS=0.895;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.73;ReadPosRankSum=-4.070e-01;SOR=0.505	GT:AD:DP:GQ:PL	0/1:42,42:84:99:1419,0,1575	20	0	1	0
chr17	76072432	76072432	-	CCGCCGCCGCCACTG	exonic	SRP68	.	nonframeshift insertion	SRP68:NM_001260502:exon1:c.59_60insCAGTGGCGGCGGCGG:p.G20_G21insSGGGG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0003	0.0003	0.0003	0.0006	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	3.869e-05	0.0001	2.556e-05	0.0006	0.0003	0.0003	8.176e-05	0.0004	0.0004	0.0005	0.0004	0.0006	0.0003	0.0003	0.0004	0.0003	0.0004	0	0.0006	0	0	9.491e-05	0	0.0005	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1232.94	34	chr17	76072432	.	A	ACCGCCGCCGCCACTG	1232.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.500e-01;DP=877;ExcessHet=0.0000;FS=9.009;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.87;ReadPosRankSum=-7.690e-01;SOR=1.766	GT:AD:DP:GQ:PL	0/0:102,0:102:99:0,120,1800	20	0	1	0
chr17	76079966	76079966	T	C	exonic	ZACN	.	nonsynonymous SNV	ZACN:NM_180990:exon4:c.T346C:p.W116R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.19	M	-5.07	D	1.092	D	0.958	D	0.951	2.086	12.93	4.17	1.744	2.683	10.809	0.823	0.0946866065325	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878985790	1.387e-06	4.104e-06	1.376e-06	1.397e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.354e-05	0	6.572e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000003	0.62929	D	0.000000	0.993433	0.81001	D	2.255	0.64187	M	-5.07	0.98648	D	-13.51	0.99944	D	0.896	0.89577	1.092	0.99336	D	0.958	0.98636	D	10	0.9912807	0.99651	D	0.094687	0.76296	D	0.823	0.94353	0.96	0.99583	0.423119698836	0.41932	0.8234380693031716	0.82300	0.573426843437	0.53402	0.53933095932	0.44350	T	0.556742	0.85089	D	0.496095	0.94175	D	0.47483	0.94098	D	0.999181926250458	0.96464	D	0.470853	0.13943	T	0.9736867	0.98593	0.937915	0.97630	0.9736867	0.98593	0.937915	0.97630	-11.45	0.82068	D	.	.	0.926	0.84705	P	.	.	4.217473	0.63767	24.6	0.98351149520393877	0.40547	0.68941	0.33994	D	AEFDGBHCI	0.332147	0.43165	N	0.386198804750121	0.60672	4.258892	0.257714691118329	0.53090	3.479718	0.999999998670525	0.74766	0.59774	0.34471	0	0.759151	0.99529	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.17	4.17	0.48303	1.926000	0.39715	.	.	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.041000	0.14368	0.0:0.0:0.0:1.0	10.809	0.45741	676	0.60355	Neurotransmitter-gated ion-channel ligand-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	995.98	34	chr17	76079966	.	T	C	995.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.460e-01;DP=818;ExcessHet=0.0000;FS=1.673;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.71;ReadPosRankSum=0.731;SOR=0.522	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr17	76101263	76101266	CCCC	-	exonic	EXOC7	.	frameshift deletion	EXOC7:NM_001282314:exon4:c.422_425del:p.R141Ifs*6,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	123.94	33	chr17	76101262	.	ACCCC	A	123.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=815;ExcessHet=0.0000;FS=50.556;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.03;ReadPosRankSum=0.119;SOR=5.891	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1441	20	0	1	0
chr17	76101266	76101266	-	AAAA	exonic	EXOC7	.	frameshift insertion	EXOC7:NM_001282314:exon4:c.421_422insTTTT:p.R141Ifs*7,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	455.09	149	chr17	76101266	.	C	CAAAA	455.09	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.010e-01;DP=932;ExcessHet=0.0000;FS=187.929;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=3.99;ReadPosRankSum=0.897;SOR=8.222	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1441	20	0	1	0
chr17	76137670	76137670	C	T	exonic	FOXJ1	.	nonsynonymous SNV	FOXJ1:NM_001454:exon3:c.G949A:p.A317T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.94	T	0.001	B	0.0	B	0.036	N	1.000	N	1.445	L	-3.24	D	-0.551	T	0.562	D	0.065	-0.500	1.707	-0.776	-0.701	-0.586	5.005	0.199	0.0600450471735	.	.	3.875e-05	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs367916894	2.74e-05	2.805e-05	2.181e-05	3.305e-05	0.0002	2.065e-05	1.818e-05	9.808e-05	7.851e-05	2.988e-05	0	0	2.521e-05	0	0	2.069e-05	1.658e-05	0.0002	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.684	0.04379	T	0.729	0.05184	T	0.001	0.07471	B	0.0	0.01387	B	0.035979	0.24579	N	0.458109	1	0.08975	N	0.915	0.23335	L	-3.24	0.93474	D	0.4	0.03463	N	0.043	0.01577	-0.5507	0.66760	T	0.562	0.84078	D	10	0.02360636	0.00622	T	0.060045	0.67869	D	0.199	0.48268	0.301	0.26843	0.332801854358	0.32887	0.17387429298476237	0.17307	0.327201205818	0.34854	0.458713650703	0.33134	T	0.147547	0.48568	T	-0.311203	0.07643	T	-0.405363	0.32762	T	0.00790949263449911	0.00093	T	0.60194	0.22516	T	0.022806004	0.00971	0.058980428	0.10991	0.022806004	0.00970	0.058980428	0.10991	-4.339	0.28720	T	.	.	0.068	0.02765	B	.	.	0.173691	0.05623	2.075	0.89606552721577315	0.18942	0.10941	0.16299	N	AEFDBCI	0.088245	0.17890	N	-1.45633877496827	0.02167	0.09540919	-1.43023702371421	0.02954	0.136888	0.999643258277777	0.41316	0.766844	0.99359	0	0.59043	0.45803	0	0.851219	0.99655	0	0.63947	0.58350	0	.	.	4.92	-0.776	0.10430	-0.429000	0.07051	.	.	-0.182000	0.10109	0.001000	0.13787	0.000000	0.08366	0.668000	0.33194	0.2199:0.3763:0.0:0.4038	5.005	0.13630	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1252.98	98	chr17	76137670	.	C	T	1252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.020e-01;DP=802;ExcessHet=0.0000;FS=0.766;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.79;ReadPosRankSum=0.566;SOR=0.824	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr17	76212479	76212479	C	T	exonic	RNF157	.	nonsynonymous SNV	RNF157:NM_001330501:exon2:c.G92A:p.S31N	.	.	439	1032	50	1	0	52	0.0245747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.053	B	0.076	B	0.000	D	1.000	D	-0.485	N	1.35	T	-1.061	T	0.028	T	0.129	0.481	6.609	4.82	1.475	3.764	14.122	0.102	.	0.0014	0.00439297	0.0040	0.0002	0.0028	0.0002	0	0.0024	0.0089	0.0172	0.0035834	554	154602	rs145563025	0.0025	0.0025	0.0019	0.0031	0.0294	0.0024	0.0024	0.0258	0.0244	0.0007	0.0025	0.0070	2.525e-05	9.374e-05	0.0294	0.0012	0.0038	0.0177	0.0020	0.0020	0.0016	0.0024	0.0191	0.0018	0.0017	0.0160	0.0148	0.0002	0	0.0039	0.0069	0.0006	0	0.0170	0.0015	0.0047	0.0191	0.722	0.03903	T	1.0	0.01155	T	0.04	0.22573	B	0.034	0.28435	B	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	0.165	0.08973	N	1.35	0.34648	T	1.93	0.00441	N	0.117	0.15469	-1.0613	0.11434	T	0.028	0.11838	T	10	0.0083604455	0.00190	T	.	.	.	0.102	0.29158	.	.	0.474010150167	0.47029	0.43531005608033446	0.43448	0.130603283098	0.14734	0.849575042725	0.89550	D	7.26E-4	0.00333	T	-0.569197	0.00224	T	-0.576109	0.14894	T	0.0164951619601506	0.00413	T	0.791921	0.43410	T	0.23026057	0.45778	0.20029142	0.43953	0.23026057	0.45778	0.20029142	0.43952	1.219	0.00124	T	.	.	0.134	0.29144	B	.;.;.;.	.;.;.;.	2.579462	0.33439	19.34	0.38023827303438879	0.02540	0.95870	0.66508	D	AEFGBI	0.533016	0.55264	D	-0.436235635924758	0.24210	1.305587	-0.169370979244719	0.32671	1.861016	0.985398335579897	0.30879	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	5.79	4.82	0.61641	1.369000	0.33832	.	.	0.519000	0.23678	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9262:0.0:0.0738	14.122	0.64726	946	0.12043	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	669.98	52	chr17	76212479	.	C	T	669.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.205e+00;DP=807;ExcessHet=0.0000;FS=2.866;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.89;ReadPosRankSum=0.598;SOR=0.361	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr17	76240156	76240156	A	C	exonic	RNF157	.	nonsynonymous SNV	RNF157:NM_001330501:exon1:c.T85G:p.S29A	.	.	377	1144	1	0	0	1	0.000436872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.001	B	0.003	B	0.000	D	0.521	D	2.025	M	1.48	T	-0.972	T	0.075	T	0.29	2.780	15.26	3.17	1.435	3.384	9.364	0.101	0.138621118654	.	0.000599042	0.0001	0	0	0	0	3.987e-05	0	0.0016	8.41e-05	13	154602	rs557317893	5.562e-05	6.088e-05	5.657e-05	5.461e-05	0.0019	4.442e-05	4.083e-05	0.0010	0.0007	0	0	0	0	0	0.0019	3.8e-05	4.182e-05	0.0004	5.955e-05	5.919e-05	7.764e-05	4.062e-05	0.0010	3.096e-05	2.224e-05	0.0004	0.0003	0	0	0	0	0	0	0.0034	4.434e-05	0	0.0010	0.086	0.32929	T	0.067	0.44302	T	0.0	0.07471	B	0.001	0.08700	B	0.000062	0.52346	D	0.090483	0.520587	0.31893	D	2.265	0.64440	M	1.48	0.31731	T	-1.89	0.44094	N	0.358	0.43995	-0.9718	0.36819	T	0.075	0.30055	T	10	0.02153626	0.00517	T	0.138621	0.82111	D	0.101	0.28911	0.185	0.09388	0.503124787307	0.49949	0.32127972130070287	0.32040	0.112223347074	0.12660	0.860123574734	0.91130	D	0.00845	0.07757	T	-0.35065	0.04686	T	-0.434045	0.29477	T	0.130611514044713	0.15439	T	0.835216	0.50504	T	0.1840348	0.39699	0.13523768	0.32385	0.1840348	0.39699	0.13523768	0.32384	-7.669	0.58820	D	.	.	0.118	0.23986	B	.;.;.;.	.;.;.;.	3.494410	0.48858	22.7	0.9615332539395286	0.28875	0.82965	0.42126	D	AEFDBHCI	0.321981	0.42462	N	-0.172438386532252	0.34285	1.955121	-0.0870928947380112	0.35923	2.084143	0.999999044523321	0.74766	0.72623	0.87236	0	0.662677	0.63036	0	0.594344	0.31042	0	0.554799	0.18163	0	.	.	3.17	3.17	0.35510	3.523000	0.53243	.	.	0.713000	0.85321	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	9.364	0.37375	964	0.07719	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2533.98	37	chr17	76240156	.	A	C	2533.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.120e-01;DP=930;ExcessHet=0.0000;FS=1.058;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=0.586;SOR=0.599	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1199	20	0	1	0
chr17	76292606	76292635	CTGATCTGCACCAGGTTGCACCACATCAAT	-	exonic	QRICH2	.	nonframeshift deletion	QRICH2:NM_032134:exon4:c.1594_1623del:p.I532_Q541del,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0004	0	0	3.84e-05	1	26028	rs780443978	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	0.0001	0.0001	7.541e-05	2.987e-05	0	0.0052	5.038e-05	0	0.0005	2.158e-05	0.0002	0	0.0001	0.0002	0.0002	8.061e-05	1.47e-05	8.663e-05	7.255e-05	.	.	0	0	0	0.0055	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	10824.94	253	chr17	76292605	.	GCTGATCTGCACCAGGTTGCACCACATCAAT	G	10824.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.23;DP=3038;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.99;MQRankSum=-1.686e+00;QD=15.46;ReadPosRankSum=1.79;SOR=0.701	GT:AD:DP:GQ:PL	0/0:173,0:173:99:0,120,1800	20	0	1	0
chr17	76293040	76293040	G	T	exonic	QRICH2	.	nonsynonymous SNV	QRICH2:NM_032134:exon4:c.C1189A:p.P397T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	1.0	D	0.999	D	.	.	1.000	N	2.05	M	3.06	T	-1.103	T	0.054	T	0.342	2.404	14.00	2.63	2.229	0.342	8.124	0.069	0.00909022539385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.005	0.72224	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	0.999905	0.19694	N	2.8	0.81625	M	3.06	0.08634	T	-3.8	0.71762	D	0.23	0.25867	-1.1033	0.03714	T	0.054	0.22731	T	9	0.2626834	0.43738	T	0.00909	0.23917	T	0.069	0.20116	0.313	0.28774	0.119812018005	0.11559	0.09347663894107576	0.09279	0.7053372141	0.61386	0.237684071064	0.02586	T	0.057012	0.30448	T	-0.201754	0.20551	T	-0.527582	0.19528	T	0.901643434169367	0.55442	D	0.529047	0.17505	T	0.094897635	0.22321	0.083165675	0.19037	0.094897635	0.22321	0.083165675	0.19037	-6.645	0.51395	T	.	.	0.14	0.30686	B	.;.	.;.	1.364895	0.17740	13.34	0.99010606688062608	0.50356	0.28269	0.23507	N	AEFGBCI	0.072829	0.14547	N	0.171656790390704	0.49841	3.180163	0.0244093556272297	0.40849	2.444632	7.76597501073896E-4	0.07793	0.615465	0.37627	0	0.486142	0.07564	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	4.83	2.63	0.30420	-0.523000	0.06316	.	.	-0.914000	0.02241	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0932:0.1609:0.7459:0.0	8.124	0.30149	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4922.98	253	chr17	76293040	.	G	T	4922.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.536;DP=2241;ExcessHet=0.0000;FS=8.358;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.13;ReadPosRankSum=1.17;SOR=0.428	GT:AD:DP:GQ:PL	0/0:173,0:173:99:0,120,1800	20	0	1	0
chr17	76293678	76293678	G	A	exonic	QRICH2	.	nonsynonymous SNV	QRICH2:NM_032134:exon4:c.C551T:p.S184L,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.001	B	.	.	1.000	N	1.385	L	2.98	T	-0.908	T	0.016	T	0.057	0.377	6.049	-7.47	-1.920	-1.581	7.450	0.021	0.00233241519237	.	0.000399361	0.0003	0	0.0003	0.0001	0	0.0001	0	0.0016	0.0002781	43	154602	rs140207583	0.0002	0.0002	0.0001	0.0003	0.0020	0.0002	0.0002	0.0018	0.0017	0	2.236e-05	0	0	0	0.0007	7.644e-05	0.0001	0.0020	0.0002	0.0002	6.425e-05	0.0003	0.0037	0.0001	0.0001	0.0024	0.0020	2.406e-05	0	6.543e-05	0	0.0004	0	0	0.0001	0	0.0037	0.254	0.16903	T	0.437	0.13441	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.46	0.12951	N	2.98	0.09356	T	-1.23	0.31170	N	0.042	0.01498	-0.9079	0.47109	T	0.016	0.06425	T	9	0.010095328	0.00226	T	0.002332	0.04507	T	0.021	0.04004	.	.	0.0138822411134	0.00435	0.03103682696857695	0.03052	0.144979564381	0.16386	0.287520945072	0.08562	T	0.003	0.02708	T	-0.75054	0.00018	T	-0.864105	0.00800	T	0.00877852218395461	0.00108	T	0.548145	0.18826	T	0.031662926	0.03048	0.042302486	0.05007	0.031177295	0.02911	0.047676537	0.06919	-4.191	0.26621	T	.	.	0.143	0.31456	B	.;.	.;.	-0.475027	0.01948	0.167	0.65405206518781023	0.07763	0.01355	0.04643	N	AEFGBI	0.026815	0.02078	N	-1.71298297381676	0.00797	0.03442817	-1.84423425430848	0.00628	0.02789969	0.145917830799482	0.17357	0.566229	0.32551	0	0.588015	0.36545	0	0.679469	0.61720	0	0.508809	0.08732	0	.	.	3.74	-7.47	0.01221	-1.951000	0.01620	.	.	-0.642000	0.04431	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4811:0.0:0.4081:0.1108	7.450	0.26400	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2511.98	139	chr17	76293678	.	G	A	2511.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.350e-01;DP=1870;ExcessHet=0.0000;FS=1.092;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.69;ReadPosRankSum=-1.814e+00;SOR=0.613	GT:AD:DP:GQ:PL	0/0:147,0:147:99:0,120,1800	20	0	1	0
chr17	76688271	76688271	G	A	exonic	MXRA7	.	nonsynonymous SNV	MXRA7:NM_001363769:exon1:c.C377T:p.S126L,	.	.	410	1111	1	0	0	1	0.000449843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0081869	0.0058	0.0456	0.0037	0	0	0.0002	0	0	0.0024967	386	154602	rs116480875	0.0010	0.0010	0.0011	0.0008	0.0336	0.0009	0.0009	0.0319	0.0313	0.0336	0.0020	0	2.576e-05	0	0.0036	2.94e-05	0.0021	0.0001	0.0095	0.0095	0.0092	0.0099	0.0330	0.0091	0.0089	0.0316	0.0310	0.0330	0	0.0038	0	0	0	0	0.0001	0.0047	0	.	.	.	0.214	0.26386	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.093	0.07262	.	.	.	.	.	.	.	0.0030620992	0.00050	T	.	.	.	.	.	.	.	0.136095386433	0.13204	0.008208541825647522	0.00785	.	.	.	.	.	.	.	.	-0.800884	0.00008	T	-0.897428	0.00521	T	.	.	.	0.474053	0.14146	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.24967	B	.	.	-0.704976	0.01309	0.071	0.52814271433055304	0.04819	0.02014	0.06055	N	AEFDGBHCI	0.056430	0.10432	N	.	.	.	.	.	.	0.999999999958816	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.635259	0.50027	0	.	.	3.3	-6.61	0.01652	-2.012000	0.01539	.	.	-0.755000	0.03551	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1069:0.2447:0.3107:0.3377	1.945	0.03150	810	0.42761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2199.98	140	chr17	76688271	.	G	A	2199.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=841;ExcessHet=0.0000;FS=1.351;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.71;ReadPosRankSum=-1.290e-01;SOR=0.833	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1247	20	0	1	0
chr17	76733609	76733609	G	A	exonic	METTL23	.	nonsynonymous SNV	METTL23:NM_001206985:exon4:c.G295A:p.D99N	Mental retardation, autosomal recessive 44, Autosomal recessive	.	432	1087	3	0	0	3	0.00137804	.	.	247141	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.39	T	0.0	B	0.001	B	0.076	N	1.000	D	0.49	N	1.93	T	-1.056	T	0.022	T	0.046	2.720	15.06	2.75	0.843	1.078	5.453	0.031	0.00484687139858	0.0070	0.00359425	0.0063	0.0015	0.0085	0	0.0012	0.0093	0.0056	0.0005	0.005996	927	154602	rs138247613	0.0077	0.0077	0.0078	0.0075	0.0090	0.0076	0.0075	0.0089	0.0088	0.0014	0.0080	0.0067	5.04e-05	0.0010	0.0052	0.0090	0.0072	0.0011	0.0058	0.0058	0.0063	0.0053	0.0094	0.0055	0.0054	0.0088	0.0086	0.0020	0	0.0068	0.0072	0	0.0004	0	0.0094	0.0118	0.0010	0.264	0.16358	T	0.549	0.09457	T	0.0	0.02946	B	0.001	0.04355	B	0.076304	0.21170	N	0.550760	0.976786	0.81001	D	0.695	0.17993	N	1.96	0.44065	T	-0.43	0.14390	N	0.058	0.09914	-1.0560	0.12776	T	0.022	0.09284	T	10	0.0042325854	0.00085	T	0.004847	0.12161	T	0.031	0.07369	.	.	0.345405024496	0.34151	0.7319529973661795	0.73140	7.65239874523E-4	0.00068	0.315866708755	0.12795	T	0.005118	0.04559	T	-0.645028	0.00078	T	-0.68992	0.06394	T	0.00655329688668455	0.00073	T	0.730727	0.36808	T	0.06487528	0.13809	0.049167648	0.07457	0.060005613	0.12263	0.05461715	0.09428	-3.212	0.22858	T	.	.	0.069	0.04517	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.432422	0.31291	18.70	0.99160457433534677	0.54071	0.94350	0.60885	D	AEFDBHCI	0.696497	0.65482	D	-0.393034489815355	0.25717	1.398086	-0.207542609368737	0.31264	1.767713	0.999999636159112	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.657601	0.63696	0	.	.	5.93	2.75	0.31439	1.126000	0.30958	.	.	0.676000	0.76740	0.987000	0.36337	1.000000	0.68203	0.998000	0.85391	0.0855:0.4625:0.3447:0.1074	5.453	0.15872	822	0.40702	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.04762	4227.08	34	chr17	76733609	.	G	A	4227.08	.	AC=2;AF=0.048;AN=42;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.41;SOR=1.038	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1311	20	1	0	0
chr17	76872805	76872805	C	T	exonic	MGAT5B	.	nonsynonymous SNV	MGAT5B:NM_198955:exon1:c.C56T:p.T19M,	.	.	410	1085	27	0	0	27	0.0122895	.	.	2808430	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.005	B	0.003	B	.	.	1.000	N	0	N	0.91	T	-1.032	T	0.036	T	0.034	1.473	10.87	-1.48	-0.174	-0.731	7.368	0.012	0.0889855898824	0.0059	0.00159744	0.0046	0.0019	0.0037	0	0.0021	0.0066	0.0073	0.0019	0.0043014	665	154602	rs191831149	0.0052	0.0052	0.0052	0.0052	0.0092	0.0051	0.0051	0.0072	0.0065	0.0016	0.0027	0.0233	2.519e-05	0.0022	0.0092	0.0055	0.0061	0.0020	0.0043	0.0043	0.0050	0.0035	0.0062	0.0040	0.0039	0.0057	0.0055	0.0015	0.0055	0.0011	0.0256	0	0.0024	0.0170	0.0062	0.0057	0.0017	0.01	0.56456	D	0.025	0.56192	D	0.005	0.12996	B	0.003	0.08700	B	.	.	.	.	1	0.18198	N	.	.	.	0.91	0.44856	T	-0.11	0.08653	N	0.078	0.05287	-1.0316	0.19937	T	0.036	0.15509	T	9	0.0034640431	0.00061	T	0.088986	0.75240	D	0.012	0.01476	.	.	0.0762999501168	0.06990	0.27722707716982	0.27635	0.348775011373	0.36740	.	.	.	.	.	.	-0.699134	0.00037	T	-0.773029	0.02670	T	0.00700139624634681	0.00080	T	0.425557	0.11413	T	.	.	.	.	.	.	.	.	-5.406	0.40977	T	.	.	0.179	0.38941	B	.	.	0.268398	0.06464	2.937	0.9569627691559579	0.27582	0.00731	0.03065	N	ALL	0.027653	0.02297	N	-1.28791693912018	0.03820	0.1713302	-1.33540545033923	0.03980	0.1868265	0.999999999904632	0.74766	0.517182	0.21443	0	0.578056	0.33634	0	0.478664	0.07449	1	0.648885	0.59868	0	.	.	3.46	-1.48	0.08286	-0.100000	0.10959	.	.	-0.847000	0.02749	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5778:0.0:0.4222	7.368	0.25959	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1449.98	36	chr17	76872805	.	C	T	1449.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.543e+00;DP=810;ExcessHet=0.0000;FS=0.726;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=-1.059e+00;SOR=0.574	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1288	20	0	1	0
chr17	76926662	76926662	C	T	exonic	MGAT5B	.	nonsynonymous SNV	MGAT5B:NM_198955:exon9:c.C1256T:p.T419M	.	.	430	1083	8	1	0	10	0.00459559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.999	D	0.917	D	0.000	D	1.000	D	1.905	M	0.85	T	-0.607	T	0.248	T	0.614	3.608	18.36	4.16	1.123	5.909	14.727	0.103	0.0318467257553	0.0006	0.000199681	0.0006	0.0002	0.0002	0	0	0.0007	0	0.0013	0.0005045	78	154602	rs140999399	0.0004	0.0004	0.0003	0.0004	0.0015	0.0003	0.0003	0.0013	0.0012	0.0002	0.0002	0.0074	2.519e-05	0	0.0014	0.0001	0.0010	0.0015	0.0004	0.0004	0.0004	0.0005	0.0010	0.0003	0.0003	0.0004	0.0003	0.0003	0	0.0001	0.0084	0	0	0	0.0002	0.0005	0.0010	0.1	0.32141	T	0.101	0.38891	T	0.999	0.77913	D	0.917	0.65306	D	0.000029	0.55875	D	0.119054	0.999991	0.58761	D	2.77	0.80896	M	0.85	0.47130	T	-1.35	0.33598	N	0.753	0.76573	-0.6067	0.64540	T	0.248	0.61774	T	10	0.015783906	0.00331	T	0.031847	0.53829	D	0.103	0.29403	.	.	0.623294314964	0.62023	0.6392828590584474	0.63863	2.04482054115	0.94296	0.738225460052	0.72711	T	0.115693	0.43447	T	-0.30156	0.08513	T	-0.246479	0.50164	T	0.0704513595022109	0.08714	T	0.973003	0.90263	D	0.13266745	0.30885	0.19231085	0.42738	0.13266745	0.30884	0.19231085	0.42737	-9.603	0.72778	D	.	.	0.162	0.35829	B	.;.;.	.;.;.	5.193781	0.87119	29.1	0.99821325371101666	0.90414	0.93538	0.58490	D	AEFDGBI	0.739065	0.68374	D	0.562775875519243	0.70865	5.564515	0.528830498182764	0.69938	5.432349	0.980275192244256	0.30118	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.14	4.16	0.48138	5.991000	0.70275	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8543:0.1457:0.0	14.727	0.68967	946	0.12043	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1846.98	39	chr17	76926662	.	C	T	1846.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.889;DP=929;ExcessHet=0.0000;FS=3.029;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.10;ReadPosRankSum=-4.330e-01;SOR=0.469	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr17	77194839	77194839	C	T	exonic	SEC14L1	.	nonsynonymous SNV	SEC14L1:NM_001144001:exon5:c.C535T:p.L179F	.	.	428	1092	2	0	0	2	0.000914913	.	.	2257633	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.59	T	0.001	B	0.004	B	0.767	N	1.000	N	1.245	L	-0.39	T	-0.933	T	0.216	T	0.139	0.276	5.493	3.65	1.361	0.126	6.326	0.087	0.0275522624486	7.7e-05	0.000199681	0.0001	9.63e-05	0.0002	0	0	0.0002	0	0	9.7e-05	15	154602	rs200819182	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	9.9e-05	0.0002	0.0001	5.974e-05	0.0003	0	0	1.872e-05	0.0003	0.0001	0.0002	1.159e-05	9.848e-05	9.842e-05	6.424e-05	0.0001	0.0002	6.002e-05	4.876e-05	0.0001	8.877e-05	2.405e-05	0	6.537e-05	0	0	0	0	0.0002	0	0	0.705	0.04107	T	0.451	0.31833	T	0.001	0.07471	B	0.004	0.10090	B	0.766772	0.06573	N	1.116430	1	0.08975	N	1.1	0.28011	L	0.91	0.70597	T	-0.84	0.22944	N	0.081	0.05670	-0.9335	0.43620	T	0.216	0.57849	T	10	0.04397556	0.03305	T	0.027552	0.50347	D	0.087	0.25287	.	.	0.51792882206	0.51437	0.2107116862348017	0.20987	0.633412425926	0.57238	0.299583017826	0.10339	T	0.017212	0.23605	T	-0.377144	0.03247	T	-0.489375	0.23457	T	0.0178533317468762	0.00513	T	0.593841	0.22547	T	0.02599649	0.01602	0.039175473	0.03952	0.02599649	0.01602	0.039175473	0.03952	-6.08	0.47533	T	.	.	0.081	0.22245	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.073388	0.14556	11.12	0.72598250531152042	0.10029	0.39577	0.26244	N	AEFDBI	0.219001	0.34394	N	-0.801015441685307	0.13284	0.6533372	-0.778807025085478	0.15014	0.7875436	0.775371632575641	0.23743	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.7	3.65	0.40985	0.837000	0.27212	0.411000	0.18111	-0.199000	0.08999	0.001000	0.13787	0.001000	0.17328	0.009000	0.08673	0.1377:0.66:0.1268:0.0754	6.326	0.20449	982	0.03397	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1327.98	131	chr17	77194839	.	C	T	1327.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=1762;ExcessHet=0.0000;FS=3.184;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.84;MQRankSum=1.27;QD=10.46;ReadPosRankSum=0.083;SOR=0.974	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	20	0	1	0
chr17	77492700	77492700	T	C	exonic	SEPTIN9	.	nonsynonymous SNV	SEPTIN9:NM_001113495:exon7:c.T707C:p.V236A	.	.	.	.	.	.	.	.	.	.	.	800386	not_provided|Charcot-Marie-Tooth_disease,_type_I	MedGen:C3661900|MONDO:MONDO:0019011,MedGen:C0751036,Orphanet:65753	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.47	T	0.792	P	0.415	B	0.000	D	1.000	D	-0.02	N	0.79	T	-1.034	T	0.071	T	0.234	2.290	13.61	3.9	0.835	3.186	11.425	0.046	0.0102193075138	0.0002	.	7.543e-05	0	0	0	0	0.0001	0	6.058e-05	3.84e-05	1	26028	rs376712636	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0	2.236e-05	0	0	0	0.0003	0.0003	0.0001	0.0002	0.0001	0.0001	0.0001	6.726e-05	0.0002	6.512e-05	5.323e-05	0.0001	8.879e-05	0	0	0.0001	0	0	0	0	0.0002	0.0005	0	0.099	0.32929	T	0.541	0.15939	T	0.004	0.44688	B	0.02	0.44933	B	0.000005	0.62929	D	0.062830	0.870414	0.35552	D	0.51	0.13489	N	0.79	0.49068	T	-1.81	0.42763	N	0.593	0.63289	-1.0340	0.19173	T	0.071	0.28969	T	10	0.20724624	0.37013	T	0.010219	0.26500	T	0.046	0.12618	.	.	0.245697971988	0.24196	0.5397820122362251	0.53903	0.963419316255	0.73082	0.538649260998	0.44255	T	0.085173	0.37442	T	-0.15638	0.27317	T	-0.462406	0.26338	T	0.0769245872809204	0.09589	T	0.926707	0.80823	D	0.33339202	0.55747	0.250659	0.50661	0.33339202	0.55747	0.250659	0.50661	-8.899	0.67045	D	0.16884955372813445	0.21137	0.279	0.61067	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.946341	0.57785	23.9	0.99033784366914124	0.50851	0.85088	0.44193	D	AEFBCI	0.709640	0.66366	D	-0.399191487303613	0.25497	1.38456	-0.212425943032382	0.31088	1.756218	0.998269908002548	0.36664	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.99	3.9	0.44240	3.157000	0.50414	3.909000	0.40397	0.652000	0.53365	1.000000	0.71638	1.000000	0.68203	0.580000	0.30894	0.1353:0.0:0.0:0.8647	11.425	0.49245	994	0.00715	Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;.;.;.;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1864.98	33	chr17	77492700	.	T	C	1864.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.11;DP=912;ExcessHet=0.0000;FS=1.158;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.42;ReadPosRankSum=0.615;SOR=0.787	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1249	20	0	1	0
chr17	78049486	78049486	G	A	exonic	TNRC6C	.	nonsynonymous SNV	TNRC6C:NM_001142640:exon4:c.G424A:p.G142R	.	.	422	1097	3	0	0	3	0.0013655	.	.	3336596	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.992	D	0.000	D	1.000	D	1.59	L	2.47	T	-1.102	T	0.106	T	0.917	1.255	10.09	5.36	2.782	4.622	19.277	0.189	0.0114249860197	0.0009	0.000399361	0.0005	0.0001	8.651e-05	0	0	0.0007	0	0.0002	0.000414	64	154602	rs143335497	0.0005	0.0005	0.0005	0.0005	0.0012	0.0005	0.0005	0.0006	0.0006	5.974e-05	0.0002	3.826e-05	0	0	0.0012	0.0006	0.0003	0.0003	0.0004	0.0004	0.0004	0.0004	0.0008	0.0003	0.0003	0.0006	0.0006	7.218e-05	0	0.0001	0	0	0	0	0.0008	0.0014	0.0002	0.055	0.38633	T	0.559	0.09144	T	1.0	0.90584	D	0.992	0.80445	D	0.000071	0.52346	D	0.166883	0.999996	0.58761	D	2.095	0.58118	M	2.45	0.15028	T	-1.01	0.26639	N	0.699	0.70351	-1.1016	0.03903	T	0.106	0.38587	T	10	0.05365655	0.05591	T	0.011425	0.29027	T	0.189	0.46613	0.373	0.38503	0.209943299407	0.20609	0.6778545626177612	0.67724	1.06120872424	0.76477	0.495253682137	0.38167	T	0.026141	0.19408	T	-0.086225	0.38697	T	0.0292537	0.72231	D	0.0831500962376595	0.10385	T	0.940206	0.77406	D	0.13018669	0.30385	0.1419931	0.33796	0.13018669	0.30384	0.1419931	0.33795	-4.285	0.28623	T	.	.	0.316	0.54477	B	.;.;.;.;.	.;.;.;.;.	4.882910	0.80103	27.2	0.9886118779252242	0.47476	0.92932	0.56903	D	AEFGBI	0.424906	0.48989	N	0.695756584150911	0.79355	7.060048	0.69634629986872	0.82098	7.684397	0.999999999980814	0.74766	0.719381	0.83141	0	0.615513	0.52658	0	0.723133	0.82415	0	0.662433	0.64102	0	.	.	5.36	5.36	0.76624	4.887000	0.62848	7.584000	0.61047	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:1.0:0.0	19.277	0.94023	851	0.35303	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2561.98	34	chr17	78049486	.	G	A	2561.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.780e-01;DP=894;ExcessHet=0.0000;FS=1.109;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=0.295;SOR=0.779	GT:AD:DP:GQ:PL	0/1:91,105:196:99:2576,0,2188	20	0	1	0
chr17	78117304	78117304	T	C	exonic	TMC6	.	nonsynonymous SNV	TMC6:NM_001374593:exon17:c.A2062G:p.K688E	Epidermodysplasia verruciformis, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.197	B	0.111	B	0.024	N	1.000	D	1.825	L	-0.16	T	-0.858	T	0.221	T	0.131	2.272	13.55	-0.773	-0.552	1.435	6.291	0.077	0.0611557229221	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866334709	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.22138	T	0.079	0.42086	T	0.008	0.29559	B	0.028	0.31539	B	0.024118	0.26321	N	0.394418	0.680245	0.81001	D	2.11	0.58565	M	-0.16	0.70717	T	-1.96	0.45404	N	0.335	0.39356	-0.8581	0.51398	T	0.221	0.58447	T	10	0.17524296	0.32446	T	0.061156	0.68238	D	0.077	0.22490	0.519	0.62066	0.308904156042	0.30501	0.45247322683678265	0.45165	0.257828214708	0.28344	0.377936661243	0.21962	T	0.022538	0.17359	T	-0.128937	0.31666	T	-0.422986	0.30734	T	0.232320442795753	0.22061	T	0.643236	0.27494	T	0.13025652	0.30399	0.09998845	0.23892	0.13025652	0.30398	0.09998845	0.23892	-8.628	0.65274	D	.	.	0.137	0.32202	B	.;.;.;.	.;.;.;.	2.290488	0.29297	18.08	0.97895055103656137	0.36697	0.94379	0.60978	D	AEFDGBHCI	0.271250	0.38714	N	-0.619368829890338	0.18363	0.9527557	-0.640789080927716	0.18449	0.9856243	0.999781861616834	0.43007	0.743674	0.98306	0	0.702456	0.74545	0	0.643519	0.47002	0	0.584449	0.35598	0	.	.	4.4	-0.773	0.10440	1.585000	0.36210	1.080000	0.23883	0.651000	0.53179	0.530000	0.27189	0.864000	0.27519	0.670000	0.33251	0.0:0.1481:0.3872:0.4648	6.291	0.20267	835	0.38313	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1678.98	33	chr17	78117304	.	T	C	1678.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.735e+00;DP=833;ExcessHet=0.0000;FS=3.177;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=-2.900e-01;SOR=1.002	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1219	20	0	1	0
chr17	78121050	78121050	C	T	exonic	TMC6	.	nonsynonymous SNV	TMC6:NM_001127198:exon12:c.G1498A:p.D500N	Epidermodysplasia verruciformis, Autosomal recessive	.	0	1517	5	0	0	5	0.00164528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.993	D	0.738	P	0.023	N	1.000	N	1.445	L	0.77	T	-0.260	T	0.365	T	0.082	1.846	12.13	3.93	2.010	1.390	15.725	0.117	0.200297886743	.	.	8.4e-06	0	0	0	0	1.537e-05	0	0	6.5e-06	1	154602	rs771079792	2.738e-06	3.42e-06	2.724e-06	2.752e-06	0.0003	6.4e-07	4.3e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.38	0.65728	T	0.073	0.48942	B	0.028	0.47728	B	0.022678	0.26589	N	0.412430	1	0.81001	D	2.17	0.60663	M	0.77	0.70833	T	-3.58	0.69118	D	0.329	0.37405	-0.2604	0.76077	T	0.365	0.72537	T	10	0.1809043	0.33296	T	0.200298	0.86700	D	0.117	0.32689	0.353	0.35246	0.273938319068	0.27005	0.09520068982967517	0.09452	0.469182032742	0.46230	0.328891336918	0.14766	T	0.135512	0.46737	T	-0.122152	0.32774	T	-0.413239	0.31852	T	0.882315456867218	0.53242	D	0.80392	0.58680	T	0.26321915	0.49386	0.24813187	0.50357	0.26321915	0.49386	0.24813187	0.50356	-8.478	0.64283	D	.	.	0.089	0.20934	B	.;.;.;.;.	.;.;.;.;.	2.598910	0.33727	19.43	0.98194344647934673	0.39062	0.49528	0.28454	N	AEFDGBCI	0.319763	0.42307	N	0.00946617069874074	0.42285	2.544892	0.00212218460073429	0.39815	2.366428	0.999999976101357	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.93	3.93	0.44666	3.277000	0.51358	3.774000	0.39765	0.596000	0.33519	0.992000	0.37556	0.999000	0.35428	0.600000	0.31387	0.0:1.0:0.0:0.0	15.725	0.77510	835	0.38313	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1542.98	34	chr17	78121050	.	C	T	1542.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.428e+00;DP=832;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=0.666;SOR=0.665	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1198	20	0	1	0
chr17	78125168	78125168	G	A	exonic	TMC6	.	nonsynonymous SNV	TMC6:NM_001127198:exon6:c.C526T:p.R176C	Epidermodysplasia verruciformis, Autosomal recessive	.	1	1520	1	0	0	1	0.000328839	.	.	1126827	Epidermodysplasia_verruciformis|Inborn_genetic_diseases	MONDO:MONDO:0009176,MedGen:C0014522,OMIM:PS226400,Orphanet:302|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.585	P	0.102	B	.	.	1.000	D	1.155	L	0.11	T	-0.943	T	0.096	T	0.292	2.241	13.45	0.957	1.522	1.872	2.753	0.078	0.30882168713	7.7e-05	0.000399361	0.0005	0.0003	0	0	0	9.174e-05	0.0049	0.0012	0.0001617	25	154602	rs112743475	0.0001	0.0001	9.081e-05	0.0002	0.0014	0.0001	0.0001	0.0012	0.0011	3.066e-05	7.933e-05	0	0	0	0.0007	5.419e-05	0.0001	0.0014	0.0001	0.0001	3.853e-05	0.0002	0.0017	8.159e-05	6.717e-05	0.0008	0.0006	9.616e-05	0	0	0	0	0	0	8.82e-05	0.0005	0.0017	0.034	0.45039	D	0.123	0.36901	T	0.585	0.38912	P	0.102	0.30857	B	.	.	.	.	0.889728	0.81001	D	2.95	0.84923	M	0.11	0.61208	T	-4.34	0.78472	D	0.228	0.29197	-0.9425	0.42218	T	0.096	0.36263	T	9	0.017108172	0.00363	T	0.308822	0.91120	D	0.078	0.22779	.	.	0.381239546501	0.37731	0.4932655510164084	0.49247	0.244973407619	0.27023	0.672464847565	0.63189	T	0.291562	0.66431	T	-0.367515	0.03722	T	-0.313916	0.43237	T	0.338565677404404	0.26567	T	0.912309	0.68816	D	0.17928296	0.38992	0.1334257	0.31996	0.17243223	0.37934	0.13190188	0.31662	-8.072	0.61560	D	.	.	0.132	0.34580	B	.;.;.;.;.	.;.;.;.;.	4.774579	0.77330	26.7	0.99447807971282243	0.65122	0.76585	0.37572	D	AEFDGBCI	0.334857	0.43349	N	-0.245573959427439	0.31280	1.752399	-0.192056016180864	0.31828	1.804882	0.999999995382184	0.74766	0.695654	0.57023	0	0.52208	0.09955	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.27	0.957	0.18736	1.973000	0.40173	8.137000	0.76672	0.616000	0.49467	0.418000	0.26314	1.000000	0.68203	0.922000	0.45779	0.1197:0.1774:0.5222:0.1807	2.753	0.04960	846	0.36215	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	480.98	35	chr17	78125168	.	G	A	480.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.772e+00;DP=751;ExcessHet=0.0000;FS=3.041;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.15;ReadPosRankSum=1.40;SOR=0.491	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1085	20	0	1	0
chr17	78125771	78125771	G	A	exonic	TMC6	.	nonsynonymous SNV	TMC6:NM_001127198:exon5:c.C385T:p.R129C	Epidermodysplasia verruciformis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.705	P	0.134	B	.	.	1.000	D	2.045	M	0.54	T	-0.811	T	0.132	T	0.7	2.252	13.49	3.03	1.797	2.714	9.868	0.214	0.286211315694	.	.	4.244e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs771251537	1.201e-05	2.463e-05	1.119e-05	1.286e-05	0.0002	7.32e-06	5.98e-06	8.898e-05	6.269e-05	0	2.593e-05	0	0.0002	0	0	4.594e-06	1.707e-05	3.73e-05	4.595e-05	4.593e-05	3.854e-05	5.369e-05	0.0002	2.107e-05	1.526e-05	1.171e-05	6.25e-06	4.81e-05	0	0	0	0.0002	0	0	4.41e-05	0	0.0002	0.006	0.72154	D	0.095	0.76473	T	0.182	0.41986	B	0.018	0.33146	B	.	.	.	.	0.999945	0.81001	D	2.115	0.58683	M	0.54	0.54911	T	-3.8	0.79229	D	0.651	0.66443	-0.8115	0.54460	T	0.132	0.44445	T	9	0.5306772	0.63165	D	0.286211	0.90405	D	0.214	0.50650	0.69	0.82748	0.407357902709	0.40350	0.6327032102732578	0.63204	0.265866858698	0.29137	0.640848338604	0.58685	T	0.129709	0.48659	T	0.0850667	0.62629	D	-0.115584	0.62163	T	0.299395650625229	0.24978	T	0.917308	0.70348	D	0.2511442	0.48121	0.18166097	0.41044	0.2511442	0.48121	0.18166097	0.41043	-6.0	0.46280	T	.	.	0.104	0.26482	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.671030	0.74647	26.2	0.99782416392012241	0.86867	0.86740	0.46086	D	AEFDBHCI	0.733042	0.67961	D	-0.0510571197288646	0.39556	2.33451	-0.0440903592110355	0.37746	2.214331	0.999999998939079	0.74766	0.695654	0.57023	0	0.672317	0.65289	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.02	3.03	0.34070	3.484000	0.52965	8.152000	0.76714	0.674000	0.70861	0.927000	0.32177	1.000000	0.68203	0.484000	0.28656	0.1012:0.0:0.8988:0.0	9.868	0.40323	846	0.36215	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1757.98	38	chr17	78125771	.	G	A	1757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.780e-01;DP=934;ExcessHet=0.0000;FS=0.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=-7.250e-01;SOR=0.613	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1498	20	0	1	0
chr17	78202547	78202547	A	G	exonic	AFMID	.	nonsynonymous SNV	AFMID:NM_001010982:exon3:c.A203G:p.Y68C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.305	M	.	.	-0.139	T	0.413	T	0.911	3.402	17.49	4.69	1.962	6.479	12.503	0.709	0.237825063931	.	.	1.661e-05	0	0	0	0	1.511e-05	0	6.064e-05	1.29e-05	2	154602	rs774921922	2.052e-05	2.052e-05	2.314e-05	1.788e-05	5.797e-05	1.456e-05	1.264e-05	2.194e-05	1.43e-05	2.988e-05	2.236e-05	0	5.039e-05	0	0	1.619e-05	4.968e-05	5.797e-05	1.315e-05	1.313e-05	0	2.688e-05	0.0002	2.18e-06	8.2e-07	.	.	2.408e-05	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.375	0.98560	H	.	.	.	-7.87	0.96114	D	0.945	0.95256	-0.1392	0.79185	T	0.413	0.76048	T	9	0.9162302	0.90983	D	0.237825	0.88560	D	0.709	0.89605	0.704	0.84054	0.665779536129	0.66296	0.8866088477849828	0.88629	0.872070922046	0.69436	0.494601458311	0.38077	T	0.637311	0.88834	D	0.359382	0.87206	D	0.460598	0.93824	D	0.999556958675385	0.97890	D	0.89781	0.68535	D	0.8169603	0.85016	0.50416833	0.71339	0.8169603	0.85017	0.50416833	0.71340	-10.835	0.79190	D	.	.	0.364	0.73405	A	.;.;.;.	.;.;.;.	4.007376	0.59093	24.1	0.99809025341477042	0.89264	0.98012	0.78863	D	AEFBI	0.876597	0.80069	D	0.609461389200322	0.73772	6.021093	0.533842967269706	0.70280	5.482264	0.998492712327365	0.37071	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.69	4.69	0.58546	6.577000	0.73916	8.994000	0.78516	0.634000	0.51959	1.000000	0.71638	1.000000	0.68203	0.072000	0.16771	1.0:0.0:0.0:0.0	12.503	0.55311	923	0.18507	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1494.98	41	chr17	78202547	.	A	G	1494.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.930e-01;DP=1026;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=2.18;SOR=0.723	GT:AD:DP:GQ:PL	0/1:62,67:129:99:1509,0,1449	20	0	1	0
chr17	78202555	78202555	G	A	exonic	AFMID	.	nonsynonymous SNV	AFMID:NM_001010982:exon3:c.G211A:p.G71S	.	.	440	1078	3	1	0	5	0.00231374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.939	P	0.387	B	0.006	N	0.999	N	1.525	L	.	.	-1.053	T	0.063	T	0.124	1.913	12.36	1.47	0.175	1.898	4.745	0.096	0.0116076046691	0.0002	.	0.0004	0	0.0002	0	0.0002	0.0004	0.0011	0.0010	0.0003881	60	154602	rs144866146	0.0004	0.0004	0.0004	0.0005	0.0026	0.0004	0.0004	0.0016	0.0013	2.987e-05	0.0002	0.0008	0	0.0003	0.0026	0.0004	0.0005	0.0012	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	4.813e-05	0	0.0003	0.0014	0	0	0	0.0004	0	0.0010	0.275	0.15770	T	0.398	0.50514	T	0.899	0.52645	P	0.14	0.39956	B	0.005604	0.32654	N	0.326436	1	0.21260	N	2.24	0.63355	M	.	.	.	-1.47	0.35991	N	0.185	0.21319	-1.0531	0.13547	T	0.063	0.26279	T	9	0.035892487	0.01860	T	0.011608	0.29407	T	0.096	0.27654	.	.	0.285316908763	0.28143	0.5640927354680952	0.56336	0.586344282559	0.54236	0.283833146095	0.08032	T	0.080117	0.36288	T	-0.454157	0.01067	T	-0.485739	0.23840	T	0.0663336908877156	0.08126	T	0.761924	0.43550	T	0.049111012	0.08670	0.04001659	0.04230	0.049111012	0.08669	0.04001659	0.04229	-5.428	0.42176	T	.	.	0.093	0.47228	B	.;.;.;.	.;.;.;.	1.988751	0.25265	16.70	0.99137035648845961	0.53437	0.60296	0.31155	D	AEFBI	0.380182	0.46292	N	-0.556372519874784	0.20284	1.068194	-0.640015214047353	0.18470	0.9867571	0.015122759323441	0.12677	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.69	1.47	0.21832	2.040000	0.40824	0.750000	0.21229	-0.301000	0.06190	0.958000	0.33488	0.149000	0.23162	0.001000	0.02609	0.0828:0.1496:0.6125:0.155	4.745	0.12406	923	0.18507	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1252.98	41	chr17	78202555	.	G	A	1252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.46;DP=1055;ExcessHet=0.0000;FS=3.439;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.80;ReadPosRankSum=1.23;SOR=1.026	GT:AD:DP:GQ:PL	0/0:76,0:76:99:0,120,1800	20	0	1	0
chr17	78414906	78414906	G	C	exonic	PGS1	.	nonsynonymous SNV	PGS1:NM_024419:exon8:c.G1430C:p.S477T,	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.001	B	0.153	N	0.859	D	-0.14	N	.	.	-1.022	T	0.087	T	0.16	0.689	7.681	4.42	2.279	2.493	9.257	0.133	0.00102604318154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505	0.07619	T	0.578	0.08565	T	0.0	0.02946	B	0.001	0.04355	B	0.153371	0.02980	N	1.656300	0.78607	0.35357	D	0.17	0.09006	N	.	.	.	-0.92	0.24676	N	0.218	0.24385	-1.0222	0.22998	T	0.087	0.33690	T	9	0.100775	0.18372	T	0.001026	0.01120	T	0.133	0.36157	0.416	0.45544	0.272205846399	0.26826	0.48822919452145286	0.48742	0.400576847845	0.41057	0.522867918015	0.42031	T	0.038567	0.24885	T	-0.158169	0.27044	T	-0.464975	0.26060	T	0.285688483656004	0.24410	T	0.716128	0.32863	T	0.113997735	0.26918	0.08272893	0.18904	0.113997735	0.26918	0.08272893	0.18904	-5.262	0.39566	T	.	.	0.072	0.04080	B	.	.	2.999653	0.40076	21.1	0.81573730893301355	0.13753	0.93252	0.57722	D	AEFDGBI	0.461500	0.51123	N	-0.349206929921983	0.27301	1.496791	-0.125370853288972	0.34370	1.976304	0.999999887756153	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.697927	0.64325	0	0.662433	0.64102	0	.	.	4.42	4.42	0.52775	2.520000	0.45215	6.467000	0.55706	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1672:0.0:0.8328:0.0	9.257	0.36751	856	0.34373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	838.98	36	chr17	78414906	.	G	C	838.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=777;ExcessHet=0.0000;FS=6.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=0.822;SOR=1.599	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1192	20	0	1	0
chr17	78415011	78415011	A	C	exonic	PGS1	.	nonsynonymous SNV	PGS1:NM_024419:exon8:c.A1535C:p.Q512P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.031	B	0.014	B	0.003	N	1.000	D	2.395	M	2.57	T	-0.973	T	0.067	T	0.705	2.865	15.54	4.52	1.895	6.835	14.033	0.306	0.0138334544978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.015	0.61642	D	0.031	0.20130	B	0.014	0.16862	B	0.002547	0.00896	N	3.268830	1	0.81001	D	2.73	0.79844	M	2.57	0.13552	T	-4.33	0.76740	D	0.778	0.77507	-0.9733	0.36496	T	0.067	0.27674	T	10	0.6591975	0.70053	D	0.013833	0.33526	T	0.306	0.62729	0.445	0.50302	0.465721554213	0.46197	0.9532397776991482	0.95307	1.35016842697	0.84055	0.556740999222	0.46807	T	0.365316	0.73075	T	0.0354514	0.56447	T	-0.186853	0.55885	T	0.967596411705017	0.67960	D	0.89771	0.64209	D	0.7117287	0.78702	0.69613236	0.82108	0.7117287	0.78703	0.69613236	0.82109	-14.498	0.94562	D	.	.	0.905	0.83119	P	.	.	3.868602	0.56145	23.7	0.97904519598220141	0.36766	0.98330	0.81695	D	AEFDBI	0.847686	0.76453	D	0.126897220986305	0.47720	2.993807	0.233067912686362	0.51692	3.34951	0.999999999986593	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	4.52	4.52	0.54797	6.811000	0.75010	6.854000	0.56746	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	1.0:0.0:0.0:0.0	14.033	0.64147	856	0.34373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	681.98	36	chr17	78415011	.	A	C	681.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.510e+00;DP=779;ExcessHet=0.0000;FS=3.324;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.74;ReadPosRankSum=0.501;SOR=1.179	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1192	20	0	1	0
chr17	78451519	78451519	G	A	exonic	DNAH17	.	nonsynonymous SNV	DNAH17:NM_173628:exon66:c.C10684T:p.L3562F,	.	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.974	D	0.874	P	0.000	D	1.000	D	4.14	H	1.34	T	0.072	D	0.355	T	0.6	5.047	29.9	5.2	2.430	7.846	18.739	0.434	0.0342041138146	.	.	1.653e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs772270560	1.574e-05	1.573e-05	8.169e-06	2.338e-05	0.0005	1.048e-05	8.75e-06	0.0001	0.0001	0	0	0	0	0	0.0005	8.995e-07	3.313e-05	0.0002	6.57e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.000020	0.62929	D	0.000000	0.999999	0.58761	D	.	.	.	1.34	0.34841	T	.	.	.	0.762	0.76481	0.072	0.83659	D	0.355	0.71766	T	10	0.7836381	0.78062	D	0.034204	0.55518	D	0.434	0.73951	.	.	0.304108284078	0.30024	0.8412484373662918	0.84084	.	.	0.80820775032	0.83218	D	.	.	.	-0.165106	0.25977	T	-0.20064	0.54585	T	0.984633207321167	0.75878	D	0.941406	0.78138	D	0.26197255	0.49257	0.25887418	0.51626	0.26197255	0.49256	0.25887418	0.51625	-12.4	0.86745	D	0.7950933963943959	0.87291	0.890	0.82098	P	.;.	.;.	4.612287	0.73149	25.9	0.99828440159395559	0.91026	0.98019	0.78921	D	AEFDGBI	0.935189	0.92967	D	0.967891929472064	0.94667	12.94143	0.87291634822986	0.94281	12.640	0.999999999999903	0.74766	0.643511	0.44296	0	0.688494	0.66719	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.2	5.2	0.71720	7.970000	0.87602	11.654000	0.93914	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.739	0.91730	895	0.25842	Dynein heavy chain, ATP-binding dynein motor region D5;Dynein heavy chain, ATP-binding dynein motor region D5	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1321.98	33	chr17	78451519	.	G	A	1321.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.189;DP=786;ExcessHet=0.0000;FS=0.824;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.53;ReadPosRankSum=0.112;SOR=0.551	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1220	20	0	1	0
chr17	78490699	78490699	G	A	exonic	DNAH17	.	nonsynonymous SNV	DNAH17:NM_173628:exon44:c.C6818T:p.P2273L,	.	YES	427	1094	1	0	0	1	0.00045683	0.8989	0.79	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	2.735	M	-2.87	D	0.847	D	0.840	D	0.675	4.442	23.6	4.45	2.187	6.269	17.443	0.698	0.51565270476	.	.	2.666e-05	0	0	0	0	4.668e-05	0	0	1.94e-05	3	154602	rs756979831	4.816e-06	5.472e-06	6.835e-06	2.77e-06	1.18e-05	2e-06	1.29e-06	1.95e-06	1.28e-06	0	0	0	0	0	0	5.418e-06	0	1.18e-05	1.971e-05	1.97e-05	1.285e-05	2.689e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999991	0.58761	D	.	.	.	-2.87	0.91478	D	.	.	.	0.704	0.70790	0.847	0.94995	D	0.840	0.94652	D	6	0.8662783	0.85873	D	0.515653	0.95369	D	0.698	0.89099	.	.	0.794473698002	0.79256	0.6612520519874178	0.66062	.	.	0.639833748341	0.58540	T	.	.	.	0.259668	0.79499	D	0.135218	0.79233	D	0.94514137506485	0.62203	D	0.889111	0.62070	D	0.2215926	0.44739	0.25958383	0.51708	0.2215926	0.44739	0.25958383	0.51707	-9.543	0.71126	D	.	.	0.296	0.52704	B	.;.	.;.	5.239870	0.87964	29.4	0.99875044825477988	0.95244	0.95477	0.64876	D	AEFDBI	0.790113	0.71910	D	0.768156177881802	0.84082	8.189286	0.69097121727494	0.81694	7.586698	0.999945610215287	0.47345	0.615465	0.37627	0	0.633656	0.55848	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.45	4.45	0.53365	6.041000	0.70625	11.429000	0.92735	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0:0.0:1.0:0.0	17.443	0.87464	909	0.22467	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1291.98	35	chr17	78490699	.	G	A	1291.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.39;DP=802;ExcessHet=0.0000;FS=1.562;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=-2.750e-01;SOR=0.519	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1079	20	0	1	0
chr17	78570252	78570252	C	T	exonic	DNAH17	.	nonsynonymous SNV	DNAH17:NM_173628:exon7:c.G1039A:p.E347K,	.	.	331	1185	6	0	0	6	0.00252525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.278	B	0.157	B	0.807	N	0.936	N	2.22	M	0.52	T	-0.927	T	0.169	T	0.392	2.317	13.71	3.77	1.010	1.669	8.108	0.226	0.0249672655463	0.0004	0.000199681	0.0001	0.0009	0	0	0	5.074e-05	0	0	7.12e-05	11	154602	rs141770758	4.123e-05	4.173e-05	3.6e-05	4.657e-05	0.0009	3.247e-05	2.973e-05	0.0006	0.0005	0.0009	2.526e-05	0	0	0	0.0009	1.094e-05	0.0001	6.138e-05	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0001	0.0005	0.0004	0.0007	0	0	0	0	0	0	2.942e-05	0.0005	0	0.198	0.20532	T	.	.	.	.	.	.	.	.	.	0.806726	0.09282	N	0.873451	0.93551	0.26942	N	2.975	0.85398	M	0.52	0.55266	T	-2.13	0.48354	N	0.564	0.58798	-0.9273	0.44530	T	0.169	0.50923	T	10	0.08257532	0.13645	T	0.024967	0.47953	T	0.226	0.52472	.	.	0.146414634003	0.14194	0.3010478820796234	0.30017	.	.	0.519189417362	0.41512	T	0.017406	0.14204	T	-0.318924	0.06986	T	-0.355339	0.38593	T	0.0986082553863525	0.12204	T	0.820318	0.47908	T	0.19516203	0.41295	0.34185627	0.59919	0.19516203	0.41294	0.34185627	0.59919	-4.518	0.31123	T	.	.	0.130	0.27939	B	.;.	.;.	3.495765	0.48888	22.7	0.99693897826467692	0.80112	0.82748	0.41934	D	AEFBI	0.355989	0.44753	N	-0.226843075427539	0.32036	1.802485	-0.154078122714712	0.33252	1.90014	4.5856421154228E-4	0.07036	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.74	3.77	0.42499	2.136000	0.41744	2.602000	0.33527	-0.804000	0.03133	0.959000	0.33545	0.990000	0.31317	0.804000	0.37906	0.0:0.7509:0.1616:0.0875	8.108	0.30061	890	0.26919	Dynein heavy chain, domain-1;Dynein heavy chain, domain-1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2073.98	35	chr17	78570252	.	C	T	2073.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.11;DP=864;ExcessHet=0.0000;FS=1.996;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=1.53;SOR=0.550	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1050	20	0	1	0
chr17	78821050	78821050	C	T	exonic	USP36	.	nonsynonymous SNV	USP36:NM_001385177:exon7:c.G274A:p.V92M	.	.	426	1082	14	0	0	14	0.00642792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.013	B	0.009	B	0.041	N	1.000	D	1.35	L	3.43	T	-0.981	T	0.009	T	0.095	0.992	9.049	-2.42	-0.325	-0.032	7.209	0.018	0.0031113896925	0.0011	0.00139776	0.0022	0.0006	0.0011	0.0002	0.0004	0.0024	0	0.0046	0.0015653	242	154602	rs142216826	0.0020	0.0020	0.0019	0.0020	0.0048	0.0019	0.0019	0.0044	0.0042	0.0002	0.0014	0.0026	2.544e-05	9.607e-05	0.0021	0.0020	0.0024	0.0048	0.0014	0.0014	0.0014	0.0014	0.0031	0.0012	0.0012	0.0020	0.0018	0.0005	0.0022	0.0027	0.0032	0	0.0003	0	0.0016	0.0038	0.0031	0.357	0.12032	T	0.117	0.36365	T	.	.	.	.	.	.	0.040924	0.24004	N	0.462816	0.999992	0.58761	D	2	0.54354	M	3.43	0.05440	T	-0.41	0.14000	N	0.173	0.19055	-0.9805	0.34886	T	0.009	0.03448	T	10	0.005590886	0.00124	T	0.003111	0.06756	T	0.018	0.03083	.	.	0.12205267543	0.11705	0.24626279601079573	0.24540	0.0790116083533	0.08888	0.309265434742	0.11796	T	0.011734	0.10428	T	-0.648782	0.00074	T	-0.704715	0.05572	T	0.00701050738788474	0.00080	T	0.327867	0.06820	T	0.05568472	0.10857	0.12082746	0.29156	0.05568472	0.10856	0.12082746	0.29155	-7.595	0.58276	D	.	.	0.087	0.35352	B	.;.;.;.	.;.;.;.	0.865060	0.12376	8.914	0.91491512338676295	0.20764	0.09175	0.14983	N	AEFDBCI	0.051140	0.09005	N	-1.1827384828026	0.05260	0.2394057	-1.19208696347302	0.06041	0.2896104	0.977218899927825	0.29799	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	-2.42	0.06164	0.026000	0.13490	-0.705000	0.07776	-1.716000	0.00736	0.002000	0.15269	0.000000	0.08366	0.872000	0.41544	0.0:0.493:0.2233:0.2837	7.209	0.25097	946	0.12043	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	674.98	34	chr17	78821050	.	C	T	674.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=888;ExcessHet=0.0000;FS=1.929;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.37;ReadPosRankSum=-8.760e-01;SOR=0.855	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	20	0	1	0
chr17	78827336	78827336	G	T	exonic	USP36	.	nonsynonymous SNV	USP36:NM_001385177:exon5:c.C103A:p.H35N	.	.	436	1077	9	0	0	9	0.00416089	.	.	704411	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.4	T	0.156	B	0.121	B	0.000	D	1.000	D	1.035	L	1.58	T	-1.103	T	0.050	T	0.505	3.820	19.40	5.39	2.538	6.538	17.992	0.156	.	0.0065	0.00259585	0.0051	0.0015	0.0056	0.0001	0.0028	0.0072	0.0075	0.0017	0.0048447	749	154602	rs150547254	0.0063	0.0063	0.0064	0.0062	0.0075	0.0062	0.0061	0.0070	0.0070	0.0010	0.0044	0.0112	5.044e-05	0.0030	0.0075	0.0071	0.0059	0.0019	0.0046	0.0046	0.0048	0.0044	0.0068	0.0043	0.0042	0.0063	0.0061	0.0013	0	0.0059	0.0115	0	0.0031	0	0.0068	0.0038	0.0025	0.127	0.27080	T	0.079	0.42086	T	0.156	0.28196	B	0.1	0.30674	B	0.000000	0.84330	D	0.092295	1	0.81001	D	1.2	0.30300	L	1.58	0.29085	T	-6.09	0.89947	D	0.407	0.45142	-1.1033	0.03714	T	0.050	0.21182	T	10	0.0073753	0.00168	T	.	.	.	0.156	0.40720	.	.	0.351830644314	0.34792	0.47098803839683895	0.47017	0.120928499415	0.13617	0.642046868801	0.58856	T	0.036777	0.24231	T	-0.405347	0.02135	T	-0.349902	0.39216	T	0.0370108171853124	0.03158	T	0.80432	0.51609	T	0.6358533	0.74610	0.6899605	0.81758	0.6358533	0.74612	0.6899605	0.81759	-9.714	0.72182	D	.	.	0.585	0.68272	P	.;.;.;.;.	.;.;.;.;.	4.102468	0.61177	24.3	0.98552732025651235	0.42871	0.96425	0.69076	D	AEFDBHCI	0.792167	0.72054	D	0.062857182451019	0.44737	2.742252	0.245671991357018	0.52405	3.415397	0.999999999999996	0.74766	0.78354	0.99714	0	0.827368	0.99789	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	6.748000	0.74674	11.569000	0.93274	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:0.0:1.0:0.0	17.992	0.89094	946	0.12043	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	566.98	23	chr17	78827336	.	G	T	566.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.990e-01;DP=672;ExcessHet=0.0000;FS=1.419;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.20;ReadPosRankSum=-1.520e+00;SOR=0.399	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1129	20	0	1	0
chr17	78972156	78972156	C	T	exonic	LGALS3BP	.	nonsynonymous SNV	LGALS3BP:NM_005567:exon6:c.G1178A:p.R393Q,	.	.	424	1091	7	0	0	7	0.00319781	.	.	756189	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.26	T	0.023	B	0.001	B	0.813	N	1.000	N	0.135	N	4.95	T	-0.906	T	0.002	T	0.037	0.619	7.332	-3.6	-0.737	-0.712	8.782	0.019	0.00383980923377	0.0022	0.00159744	0.0006	0.0058	8.646e-05	0	0.0002	0.0001	0	0	0.0005433	84	154602	rs143498463	0.0003	0.0003	0.0003	0.0002	0.0054	0.0002	0.0002	0.0048	0.0045	0.0054	0.0003	0	2.519e-05	9.377e-05	0	0.0001	0.0005	0	0.0018	0.0019	0.0017	0.0019	0.0060	0.0017	0.0016	0.0054	0.0052	0.0060	0	0.0010	0	0	0	0	0.0002	0.0005	0.0002	0.347	0.12428	T	0.999	0.02314	T	0.023	0.18885	B	0.001	0.04355	B	0.812843	0.06838	N	1.128570	1	0.18198	N	-0.2	0.04182	N	4.95	0.01376	T	-0.46	0.14978	N	0.033	0.00882	-0.9063	0.47297	T	0.002	0.00738	T	10	0.0058318675	0.00130	T	0.00384	0.08992	T	0.019	0.03383	.	.	0.149567049428	0.14543	0.07106137466376987	0.07043	0.170216262749	0.19188	0.190550804138	0.00235	T	0.154619	0.49599	T	-0.75239	0.00017	T	-0.852992	0.00922	T	0.00172858581446701	0.00018	T	0.682032	0.29067	T	0.015819771	0.00159	0.023056546	0.00322	0.015819771	0.00159	0.023056546	0.00321	-2.723	0.07498	T	.	.	0.142	0.31151	B	.	.	-0.953794	0.00840	0.029	0.9241972035313708	0.21837	0.00590	0.02647	N	AEFDBCI	0.108148	0.21524	N	-1.33238412095268	0.03311	0.1476776	-1.36602620096765	0.03621	0.1692559	0.999986675283119	0.51787	0.736574	0.97449	0	0.709663	0.81188	0	0.732669	0.93749	0	0.699875	0.68795	0	.	.	3.41	-3.6	0.04277	-1.195000	0.03152	-2.773000	0.03376	-1.542000	0.00977	0.000000	0.06391	0.000000	0.08366	0.242000	0.23054	0.0:0.3319:0.0:0.6681	8.782	0.33955	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2153.98	34	chr17	78972156	.	C	T	2153.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.394;DP=901;ExcessHet=0.0000;FS=4.180;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=-9.260e-01;SOR=1.006	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1223	20	0	1	0
chr17	79082003	79082003	C	G	exonic	ENGASE	.	stopgain	ENGASE:NM_001042573:exon7:c.C978G:p.Y326X,	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	4.290	22.4	-2.55	-0.302	-0.288	11.777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.876	0.87373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471834	0.93405	D	0.439981	0.93322	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.652076	0.96729	36	0.99382637859050438	0.61979	0.55475	0.29873	D	AEFDBHCI	0.183104	0.31044	N	0.0294483900341819	0.43199	2.617454	-0.283299432148282	0.28647	1.598954	0.479139086092817	0.20771	0.706548	0.73137	0	0.723109	0.82256	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.46	-2.55	0.05922	-0.269000	0.08626	-4.250000	0.02257	-0.800000	0.03169	0.377000	0.25981	0.000000	0.08366	0.361000	0.25909	0.0:0.4142:0.0:0.5858	11.777	0.51261	917	0.20147	Glycoside hydrolase, family 85	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1621.98	34	chr17	79082003	.	C	G	1621.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.32;DP=960;ExcessHet=0.0000;FS=0.686;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=-1.765e+00;SOR=0.823	GT:AD:DP:GQ:PL	0/0:108,0:108:99:0,120,1800	20	0	1	0
chr17	79735355	79735355	C	A	exonic	ENPP7	.	nonsynonymous SNV	ENPP7:NM_178543:exon3:c.C712A:p.R238S,	.	.	432	1084	6	0	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.001	B	0.012	B	0.981	N	1.000	N	-0.4	N	-0.81	T	-0.975	T	0.108	T	0.184	-1.843	0.009	-6.25	-1.051	1.531	3.812	0.137	0.0135050875108	0.0015	0.000399361	0.0014	0.0003	0	0	0.0030	0.0019	0	0.0015	0.0014683	227	154602	rs144007702	0.0021	0.0021	0.0021	0.0020	0.0024	0.0020	0.0020	0.0023	0.0023	0.0004	6.708e-05	3.826e-05	0	0.0022	0.0007	0.0024	0.0013	0.0017	0.0011	0.0011	0.0012	0.0010	0.0019	0.0010	0.0009	0.0015	0.0015	0.0003	0	0.0003	0	0	0.0017	0.0034	0.0018	0	0.0019	0.837	0.02832	T	0.756	0.04703	T	.	.	.	.	.	.	0.981468	0.08091	N	0.992267	1	0.08975	N	.	.	.	-0.81	0.73949	T	0.55	0.02721	N	0.121	0.11197	-0.9747	0.36191	T	0.108	0.39221	T	10	0.01062566	0.00236	T	0.013505	0.32951	T	0.137	0.36984	.	.	0.240491677333	0.23641	0.5131442733717797	0.51236	0.143592484051	0.16211	0.213940173388	0.00990	T	.	.	.	-0.479808	0.00741	T	-0.465978	0.25950	T	0.00446246836952744	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.13456	B	.	.	-0.413813	0.02162	0.210	0.23841592245852766	0.01026	0.01785	0.05587	N	AEFDGBI	0.256329	0.37528	N	-1.78484195140975	0.00583	0.0251314	-1.78828262592954	0.00797	0.03558667	0.974876230065872	0.29582	0.57788	0.32782	0	0.593476	0.48661	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.39	-6.25	0.01863	1.515000	0.35452	-0.178000	0.11160	-1.290000	0.01256	0.004000	0.16614	0.000000	0.08366	0.009000	0.08673	0.3662:0.4062:0.1283:0.0994	3.812	0.08316	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2928.98	36	chr17	79735355	.	C	A	2928.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.485;DP=963;ExcessHet=0.0000;FS=0.469;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.10;ReadPosRankSum=0.688;SOR=0.740	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1234	20	0	1	0
chr17	79782007	79782007	C	T	exonic	CBX2	.	nonsynonymous SNV	CBX2:NM_032647:exon4:c.C494T:p.P165L,	.	.	0	1518	4	0	0	4	0.00131579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	B	0.002	B	.	.	1.000	N	.	.	.	.	-1.020	T	0.055	T	0.034	2.299	13.65	-1.03	-0.382	-0.707	6.667	0.011	0.00794506657179	0.0003	.	0.0003	0.0002	0	0	0	0.0004	0.0022	0.0005	0.0003428	53	154602	rs141807141	0.0007	0.0007	0.0006	0.0007	0.0008	0.0006	0.0006	0.0007	0.0007	0.0001	4.472e-05	0	0.0001	1.876e-05	0.0007	0.0008	0.0005	0.0008	0.0003	0.0003	0.0004	0.0003	0.0008	0.0002	0.0002	0.0004	0.0004	0.0001	0	6.541e-05	0	0	0	0	0.0006	0	0.0008	0.0	0.91255	D	0.016	0.60972	D	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-1.81	0.42575	N	0.095	0.07535	-1.0205	0.23551	T	0.055	0.23300	T	6	0.021969974	0.00537	T	0.007945	0.21059	T	0.011	0.01250	.	.	0.043077524339	0.03247	.	.	.	.	.	.	.	.	.	.	-0.618156	0.00113	T	-0.74622	0.03635	T	0.0132076967938423	0.00234	T	0.433957	0.11861	T	.	.	.	.	.	.	.	.	-3.201	0.12493	T	.	.	0.087	0.11366	B	.	.	0.110563	0.05102	1.634	0.98380204775926294	0.40842	0.02494	0.06974	N	AEFDBCI	0.020770	0.00854	N	-1.0467255863589	0.07652	0.3561845	-1.15814736498346	0.06623	0.3194013	0.963019347106056	0.28662	0.495158	0.18159	0	0.616935	0.53198	0	0.575934	0.27490	0	0.491896	0.07777	0	.	.	3.26	-1.03	0.09586	-1.044000	0.03642	-1.027000	0.06560	-0.190000	0.09434	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.374:0.0:0.626	6.667	0.22235	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1175.98	33	chr17	79782007	.	C	T	1175.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.76;DP=763;ExcessHet=0.0000;FS=0.900;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.56;ReadPosRankSum=0.064;SOR=0.740	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1164	20	0	1	0
chr17	79784292	79784292	G	T	exonic	CBX2	.	nonsynonymous SNV	CBX2:NM_005189:exon5:c.G849T:p.K283N,	.	.	0	1520	2	0	0	2	0.000657462	.	.	715771	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.956	P	0.527	P	0.552	N	0.951	D	0.805	L	.	.	-1.015	T	0.087	T	0.206	2.162	13.19	3.42	1.337	0.616	8.020	0.110	0.0357920586237	0.0042	0.000998403	0.0032	0.0015	0.0003	0	0.0091	0.0046	0.0035	0.0007	0.0033247	514	154602	rs149210919	0.0043	0.0043	0.0044	0.0043	0.0050	0.0043	0.0042	0.0049	0.0049	0.0007	0.0009	0.0004	2.519e-05	0.0079	0	0.0050	0.0032	0.0006	0.0036	0.0036	0.0037	0.0034	0.0052	0.0033	0.0032	0.0048	0.0046	0.0010	0.0044	0.0016	0	0	0.0101	0	0.0052	0.0028	0.0010	0.002	0.72154	D	0.136	0.34009	T	0.956	0.54666	P	0.527	0.48453	P	0.552469	0.05377	N	1.201010	0.999908	0.19694	N	1.75	0.45442	L	.	.	.	-1.31	0.32791	N	0.336	0.37717	-1.0151	0.25304	T	0.087	0.33830	T	9	0.006760508	0.00153	T	0.035792	0.56579	D	0.110	0.31079	0.221	0.14371	0.303174742685	0.29934	0.2899101585974234	0.28904	0.106865737165	0.12070	0.430297017097	0.29249	T	0.10812	0.42088	T	-0.448046	0.01160	T	-0.405975	0.32690	T	0.0123809355320039	0.00202	T	0.788521	0.42806	T	0.16106519	0.36090	0.11861816	0.28633	0.16106519	0.36090	0.11861816	0.28632	-4.248	0.27441	T	0.29062539405284354	0.38712	0.401	0.59611	A	.	.	2.346204	0.30070	18.32	0.99707197684814619	0.81074	0.77985	0.38411	D	AEFDBCI	0.174687	0.30184	N	-0.123190696150763	0.36385	2.102375	-0.115995364821325	0.34745	2.002094	0.998402648368864	0.36906	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.52	3.42	0.38259	1.254000	0.32500	3.851000	0.40089	-0.113000	0.14837	0.964000	0.33853	1.000000	0.68203	0.061000	0.16044	0.1448:0.1328:0.7223:0.0	8.020	0.29563	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2149.98	47	chr17	79784292	.	G	T	2149.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.24;DP=956;ExcessHet=0.0000;FS=1.876;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=-1.614e+00;SOR=0.554	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1159	20	0	1	0
chr17	79784435	79784435	A	G	exonic	CBX2	.	nonsynonymous SNV	CBX2:NM_005189:exon5:c.A992G:p.H331R,	.	.	0	1512	10	0	0	10	0.00329598	.	.	2142004	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.82	T	0.068	B	0.013	B	0.733	N	1.000	D	0.695	N	.	.	-1.073	T	0.119	T	0.219	-0.131	3.358	3.51	0.764	1.637	11.257	0.075	0.0119079555924	0.0002	0.000399361	0.0003	0	0.0003	0	0	0.0003	0	0.0007	0.000207	32	154602	rs201075939	0.0002	0.0002	0.0002	0.0002	0.0070	0.0002	0.0002	0.0053	0.0047	8.966e-05	0.0002	0.0001	2.52e-05	0	0.0070	0.0001	0.0005	0.0007	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0001	0.0001	7.228e-05	0	0.0003	0	0	0	0	0.0002	0.0019	0.0002	0.017	0.51248	D	0.538	0.09829	T	0.068	0.23728	B	0.013	0.16460	B	0.732577	0.06379	N	1.159790	0.999991	0.08975	N	2.095	0.58118	M	.	.	.	-2.24	0.50175	N	0.075	0.04913	-1.0735	0.08660	T	0.119	0.41735	T	9	0.019314408	0.00430	T	0.011908	0.29998	T	0.075	0.21907	.	.	0.316918214084	0.31302	0.19244669501094425	0.19162	0.0849632369242	0.09603	0.394409477711	0.24289	T	0.199139	0.55633	T	-0.368814	0.03654	T	-0.403389	0.32990	T	0.0465981992207998	0.04893	T	0.478252	0.14398	T	0.11438707	0.27005	0.13013655	0.31277	0.11438707	0.27005	0.13013655	0.31276	-2.709	0.07379	T	0.2681398792401821	0.36114	0.085	0.10208	B	.	.	0.986507	0.13641	10.18	0.82783631939214963	0.14373	0.71376	0.34986	D	AEFDBCI	0.147788	0.27153	N	-0.803507907425884	0.13221	0.6497512	-0.746901901413941	0.15798	0.8326715	0.989638815418167	0.31888	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.62	3.51	0.39297	2.575000	0.45689	4.846000	0.45329	0.756000	0.94297	0.802000	0.29747	1.000000	0.68203	0.019000	0.11356	0.7108:0.2892:0.0:0.0	11.257	0.48288	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1574.98	47	chr17	79784435	.	A	G	1574.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.818e+00;DP=939;ExcessHet=0.0000;FS=0.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=1.52;SOR=0.672	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1159	20	0	1	0
chr17	79784572	79784572	G	A	exonic	CBX2	.	nonsynonymous SNV	CBX2:NM_005189:exon5:c.G1129A:p.A377T,	.	.	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.002	B	0.001	B	0.995	U	1.000	N	0.345	N	.	.	-1.011	T	0.055	T	0.075	0.862	8.492	0.627	0.021	-0.118	5.932	0.009	0.00672153244744	.	.	2.649e-05	0.0001	0	0	0	1.625e-05	0	6.111e-05	1.94e-05	3	154602	rs782550309	5.478e-06	5.472e-06	2.725e-06	8.259e-06	0.0003	2.36e-06	1.7e-06	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	4.497e-06	0	1.159e-05	6.574e-06	6.567e-06	1.285e-05	0	6.539e-05	0	0	.	.	0	0	6.539e-05	0	0	0	0	0	0	0	0.116	0.28395	T	0.333	0.18395	T	0.002	0.09854	B	0.001	0.04355	B	0.995112	0.08004	U	0.995454	1	0.08975	N	1.7	0.43825	L	.	.	.	-0.49	0.15578	N	0.014	0.00160	-1.0110	0.26604	T	0.055	0.23224	T	9	0.051789433	0.05114	T	0.006722	0.17756	T	0.009	0.00846	0.183	0.09131	0.151262610727	0.14761	0.14605117101578427	0.14527	0.0375144319418	0.03981	0.309696435928	0.11862	T	0.043376	0.26481	T	-0.42729	0.01540	T	-0.667533	0.07767	T	0.116677641868591	0.14102	T	0.574643	0.20620	T	0.030516535	0.02728	0.041255612	0.04647	0.030516535	0.02728	0.041255612	0.04647	-4.244	0.27384	T	0.19764784468262425	0.26146	0.066	0.02118	B	.	.	0.639762	0.10083	6.830	0.99058356219550292	0.51413	0.17516	0.19871	N	AEFDBCI	0.069897	0.13854	N	-1.24043307664119	0.04427	0.1997736	-1.23292535126495	0.05389	0.2566385	0.959236761488439	0.28413	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.96	0.627	0.16848	0.144000	0.15956	0.512000	0.19089	-1.559000	0.00950	0.000000	0.06391	0.007000	0.19602	0.000000	0.00833	0.2312:0.2741:0.4946:0.0	5.932	0.18382	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1243.98	47	chr17	79784572	.	G	A	1243.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.475;DP=924;ExcessHet=0.0000;FS=0.745;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=1.19;SOR=0.588	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1159	20	0	1	0
chr17	79945029	79945029	G	A	exonic	TBC1D16	.	nonsynonymous SNV	TBC1D16:NM_001271844:exon6:c.C662T:p.S221L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.511	P	0.166	B	0.160	N	1.000	N	1.59	L	1.82	T	-1.090	T	0.045	T	0.394	2.278	13.58	4.12	1.098	2.696	14.802	0.097	0.0101798689974	.	0.000399361	3.377e-05	0	0.0011	0	0	0	0	0	5.17e-05	8	154602	rs181056828	2.237e-05	2.599e-05	2.354e-05	2.117e-05	0.0007	1.619e-05	1.385e-05	0.0005	0.0005	0	0.0007	0	0	0	0	9.109e-07	3.372e-05	0	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	8.711e-05	0.0008	0.0007	7.215e-05	0	0.0012	0	0	0	0	0	0.0005	0	0.061	0.37118	T	0.106	0.38742	T	0.511	0.37337	P	0.166	0.35067	B	0.159620	0.17705	N	0.593369	1	0.08975	N	1.36	0.34107	L	1.82	0.25018	T	-2.9	0.63207	D	0.312	0.39254	-1.0901	0.05515	T	0.045	0.19437	T	10	0.032811165	0.01441	T	0.01018	0.26412	T	0.097	0.27909	.	.	0.482646159919	0.47895	0.2553351122021198	0.25447	0.526113108519	0.50245	0.508468985558	0.40008	T	0.19766	0.55440	T	-0.367874	0.03702	T	-0.419031	0.31186	T	0.0600106803421763	0.07171	T	0.921908	0.71628	D	0.16503319	0.36749	0.19459799	0.43091	0.16503319	0.36749	0.19459799	0.43090	-5.183	0.46936	T	.	.	0.086	0.13923	B	.;.;.;.;.	.;.;.;.;.	3.373073	0.46622	22.3	0.99402889055450583	0.62887	0.24605	0.22445	N	AEFDBCI	0.273875	0.38919	N	-0.343669262754005	0.27506	1.50964	-0.34914145661403	0.26535	1.466331	0.999566222264948	0.40425	0.67177	0.52595	0	0.588066	0.40923	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.11	4.12	0.47504	2.771000	0.47354	8.415000	0.77135	0.676000	0.76740	0.079000	0.22314	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.8548:0.1452	14.802	0.69548	855	0.34697	Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;.;.;.;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	532.98	38	chr17	79945029	.	G	A	532.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.698e+00;DP=778;ExcessHet=0.0000;FS=0.913;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.72;ReadPosRankSum=-1.248e+00;SOR=0.817	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr17	79952727	79952727	C	T	exonic	TBC1D16	.	nonsynonymous SNV	TBC1D16:NM_019020:exon4:c.G871A:p.A291T,	.	.	422	1088	11	1	0	13	0.00593878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.977	D	0.242	B	0.000	N	1.000	D	2.14	M	2.66	T	-1.053	T	0.020	T	0.065	3.782	19.20	0.844	0.239	1.939	6.067	0.121	.	0.0052	0.00119808	0.0058	0.0015	0.0018	0	0.0157	0.0079	0.0023	0.0021	0.0055239	854	154602	rs150604803	0.0063	0.0063	0.0064	0.0062	0.0065	0.0062	0.0061	0.0064	0.0064	0.0009	0.0015	0.0081	2.521e-05	0.0195	0.0061	0.0065	0.0053	0.0024	0.0048	0.0048	0.0045	0.0052	0.0062	0.0045	0.0044	0.0057	0.0055	0.0013	0.0011	0.0029	0.0069	0.0002	0.0157	0.0068	0.0062	0.0028	0.0015	0.09	0.31987	T	0.162	0.31225	T	0.977	0.58535	D	0.242	0.38699	B	0.000140	0.49741	N	0.207799	0.999585	0.47691	D	2.15	0.60148	M	2.66	0.12575	T	-1.18	0.30140	N	0.251	0.28381	-1.0529	0.13601	T	0.020	0.08407	T	10	0.007129371	0.00162	T	.	.	.	0.121	0.33580	.	.	0.391470661076	0.38757	0.2829834522016896	0.28211	0.0725644733559	0.08133	0.544286251068	0.45052	T	0.024122	0.18284	T	-0.632355	0.00092	T	-0.675137	0.07283	T	0.0199643503125701	0.00697	T	0.80432	0.45191	T	0.042801093	0.06557	0.061765444	0.11979	0.042801093	0.06556	0.061765444	0.11978	-3.401	0.15070	T	.	.	0.068	0.02894	B	.	.	1.908742	0.24245	16.32	0.9948379076596906	0.67014	0.84028	0.43115	D	AEFDBCI	0.150831	0.27520	N	-0.222171161628662	0.32224	1.815097	-0.296288536663029	0.28221	1.571753	0.999919340409839	0.45857	0.67177	0.52595	0	0.627178	0.54094	0	0.26897	0.05253	2	0.711	0.71501	0	.	.	5.3	0.844	0.18083	1.988000	0.40319	0.044000	0.13909	-0.202000	0.08738	0.929000	0.32243	0.002000	0.18203	0.685000	0.33688	0.1321:0.6492:0.0:0.2186	6.067	0.19094	854	0.34840	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	577.98	35	chr17	79952727	.	C	T	577.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.804e+00;DP=750;ExcessHet=0.0000;FS=2.551;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=-1.600e+00;SOR=0.384	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1066	20	0	1	0
chr17	80010469	80010469	G	A	exonic	TBC1D16	.	nonsynonymous SNV	TBC1D16:NM_019020:exon3:c.C470T:p.A157V,	.	.	432	1089	0	1	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.0	B	0.0	B	0.001	N	1.000	D	0	N	3.1	T	-0.994	T	0.008	T	0.02	0.412	6.235	3.6	0.904	4.180	11.189	0.110	.	0.0036	0.00299521	0.0010	0.0122	0.0002	0.0001	0	3.82e-05	0	0	0.0008344	129	154602	rs142386768	0.0003	0.0003	0.0004	0.0003	0.0104	0.0003	0.0003	0.0095	0.0091	0.0104	0.0003	0	0.0002	0	0.0005	4.773e-05	0.0006	8.162e-05	0.0027	0.0027	0.0028	0.0026	0.0096	0.0025	0.0024	0.0088	0.0085	0.0096	0	0.0005	0	0	0	0	2.941e-05	0.0014	0.0002	0.347	0.12428	T	0.345	0.17750	T	0.0	0.02946	B	0.0	0.01387	B	0.001087	0.00736	N	4.714300	0.999987	0.18198	N	0.69	0.16971	N	3.1	0.08283	T	-0.06	0.07882	N	0.156	0.16168	-0.9936	0.31670	T	0.008	0.02842	T	10	0.0040952265	0.00080	T	.	.	.	0.110	0.31079	.	.	0.347659731818	0.34379	0.14809863464875447	0.14731	0.0379656945064	0.04033	0.333814620972	0.15509	T	0.007393	0.06799	T	-0.698154	0.00037	T	-0.767665	0.02846	T	0.0155563963384397	0.00353	T	0.385761	0.09460	T	0.036639832	0.04547	0.046361614	0.06445	0.036639832	0.04547	0.046361614	0.06445	-3.892	0.22182	T	.	.	0.068	0.02639	B	.	.	1.377228	0.17880	13.42	0.87793806213857706	0.17486	0.95841	0.66383	D	AEFBI	0.488225	0.52664	N	-0.71691909486718	0.15547	0.7844099	-0.62317322750227	0.18898	1.011611	0.979357193794744	0.30019	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.58	3.6	0.40374	4.274000	0.58717	3.378000	0.37982	0.614000	0.49286	0.996000	0.39380	0.836000	0.27257	0.001000	0.02609	0.0874:0.0:0.9126:0.0	11.189	0.47902	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1419.98	40	chr17	80010469	.	G	A	1419.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.747e+00;DP=836;ExcessHet=0.0000;FS=6.485;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.49;ReadPosRankSum=0.724;SOR=1.212	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1194	20	0	1	0
chr17	80048756	80048756	G	C	exonic	CCDC40	.	nonsynonymous SNV	CCDC40:NM_001243342:exon5:c.G850C:p.D284H	Ciliary dyskinesia, primary, 15	.	0	1480	41	1	0	43	0.014319	.	.	256485	not_provided|Primary_ciliary_dyskinesia_15|not_specified|Male_infertility|Primary_ciliary_dyskinesia	MedGen:C3661900|MONDO:MONDO:0013435,MedGen:C3151137,OMIM:613808,Orphanet:244|MedGen:CN169374|Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MedGen:C0021364|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.981	D	.	.	0.634	D	2.495	M	1.96	T	-0.255	T	0.347	T	0.673	3.222	16.80	1.55	0.409	0.461	8.520	0.174	.	0.0024	0.00139776	0.0041	0.0012	0.0013	0	0	0.0039	0.0145	0.0102	0.002639	408	154602	rs201042940	0.0025	0.0025	0.0023	0.0027	0.0191	0.0024	0.0024	0.0162	0.0151	0.0011	0.0013	0.0062	0	0.0002	0.0191	0.0021	0.0032	0.0087	0.0016	0.0016	0.0014	0.0018	0.0087	0.0014	0.0014	0.0066	0.0059	0.0004	0.0011	0.0008	0.0037	0	0.0002	0.0204	0.0021	0.0043	0.0087	0.004	0.72154	D	0.008	0.76473	D	1.0	0.90584	D	0.968	0.75168	D	.	.	.	.	0.633722	0.32813	D	2.83	0.82355	M	0.33	0.59314	T	-4.65	0.84601	D	0.53	0.55886	-0.2553	0.76216	T	0.347	0.71147	T	9	0.01399526	0.00295	T	.	.	.	0.174	0.44019	.	.	0.682504492806	0.67979	0.24220831427307404	0.24134	0.76162819002	0.64289	0.405483782291	0.25832	T	0.56747	0.85623	D	-0.250417	0.14046	T	-0.125376	0.61358	T	0.0493624269693155	0.05388	T	0.881912	0.64770	D	0.2342842	0.46246	0.24963558	0.50538	0.23541293	0.46377	0.29497436	0.55528	-7.763	0.62419	D	0.7666023762268043	0.84792	0.346	0.56831	A	.;.;.;.	.;.;.;.	2.747739	0.36012	20.1	0.99456458065418962	0.65581	0.51224	0.28846	D	AEFGBIJ	0.137980	0.25913	N	0.264883616036358	0.54378	3.603614	0.120231942431681	0.45586	2.81906	6.51723434342093E-4	0.07551	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.7	1.55	0.22356	0.526000	0.22680	0.951000	0.22923	0.676000	0.76740	0.531000	0.27197	0.039000	0.21534	0.958000	0.51230	0.2692:0.0:0.7308:0.0	8.520	0.32428	900	0.24599	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.04762	2491.11	35	chr17	80048756	.	G	C	2491.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.16;DP=941;ExcessHet=0.1072;FS=3.153;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=0.014;SOR=0.513	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1292	19	0	2	0
chr17	80090216	80090216	G	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	38	25	77	71	15	234	0.814126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6471	53123.61	98	chr17	80090216	.	G	C,*	53123.61	.	AC=21,1;AF=0.618,0.029;AN=34;BaseQRankSum=1.74;DP=3278;ExcessHet=5.2224;FS=0.555;InbreedingCoeff=-0.1442;MLEAC=25,1;MLEAF=0.735,0.029;MQ=55.51;MQRankSum=-5.208e+00;QD=22.16;ReadPosRankSum=-1.655e+00;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:220,0,0:220:0:.:.:0,0,0,0,0,0	1	6	9	4
chr17	80090222	80090346	GGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCGGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAA	-	exonic	CCDC40	.	frameshift deletion	CCDC40:NM_001243342:exon18:c.2916_3040del:p.T982Qfs*70,	Ciliary dyskinesia, primary, 15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.074e-05	8.547e-05	4.897e-05	7.234e-05	0.0004	4.629e-05	4.131e-05	0.0002	0.0002	5.962e-05	0.0001	0.0001	0.0004	7.497e-05	0	3.796e-05	8.809e-05	7.133e-05	3.551e-05	7.568e-05	4.149e-05	2.919e-05	0.0002	1.338e-05	8.54e-06	1.231e-05	6.41e-06	2.656e-05	0	0	0	0.0002	0	0	4.637e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	147.03	72	chr17	80090221	.	CGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCGGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAA	C,*	147.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.09;DP=2574;ExcessHet=0.1072;FS=3.869;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=59.31;MQRankSum=1.33;QD=0.47;ReadPosRankSum=-8.297e+00;SOR=0.611	GT:AD:DP:GQ:PL	0/0:174,0,0:174:99:0,120,1800,120,1800,1800	19	0	1	0
chr17	80090221	80090346	CGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCGGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAA	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	147.03	72	chr17	80090221	.	CGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCGGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAA	C,*	147.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.09;DP=2574;ExcessHet=0.1072;FS=3.869;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=59.31;MQRankSum=1.33;QD=0.47;ReadPosRankSum=-8.297e+00;SOR=0.611	GT:AD:DP:GQ:PL	0/0:174,0,0:174:99:0,120,1800,120,1800,1800	19	0	1	0
chr17	80090233	80090233	A	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3576.28	72	chr17	80090233	.	A	G,*	3576.28	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-1.180e+00;DP=2625;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=57.83;MQRankSum=6.42;QD=7.12;ReadPosRankSum=0.826;SOR=0.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:174,0,0:174:99:.:.:0,120,1800,120,1800,1800	18	0	2	0
chr17	80090253	80090346	CGGGACGCGCGCGGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAA	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	2	1467	32	5	16	58	0.0141129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1241.03	72	chr17	80090253	.	CGGGACGCGCGCGGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAA	C,*	1241.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.596;DP=2514;ExcessHet=0.1072;FS=2.643;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=59.62;MQRankSum=0.303;QD=4.07;ReadPosRankSum=-3.371e+00;SOR=0.588	GT:AD:DP:GQ:PL	0/0:174,0,0:174:99:0,120,1800,120,1800,1800	19	0	1	0
chr17	80090265	80090265	G	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	34612.98	75	chr17	80090265	.	G	A,*	34612.98	.	AC=18,2;AF=0.643,0.071;AN=28;BaseQRankSum=2.00;DP=2590;ExcessHet=0.6050;FS=1.909;InbreedingCoeff=0.1309;MLEAC=24,3;MLEAF=0.857,0.107;MQ=52.75;MQRankSum=-4.152e+00;QD=21.84;ReadPosRankSum=0.657;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:170,0,0:170:0:.:.:0,0,0,0,0,0	1	7	4	7
chr17	80099686	80099686	G	A	exonic	CCDC40	.	nonsynonymous SNV	CCDC40:NM_017950:exon20:c.G3340A:p.V1114M,	Ciliary dyskinesia, primary, 15	.	0	1502	18	2	0	22	0.00727032	.	.	101777	Glycogen_storage_disease,_type_II|Primary_ciliary_dyskinesia|not_provided|not_specified|Primary_ciliary_dyskinesia_15	MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:365|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013435,MedGen:C3151137,OMIM:613808,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.99	D	0.814	P	.	.	0.992	N	1.935	M	0.68	T	-1.120	T	0.021	T	0.503	3.057	16.20	2.42	1.239	0.732	6.333	0.193	.	0.0020	0.0133786	0.0119	0.0011	0.0915	0.0001	0.0135	0.0028	0.0101	0.0050	0.0113388	1753	154602	rs61740509	0.0057	0.0057	0.0061	0.0054	0.0804	0.0056	0.0056	0.0782	0.0773	0.0008	0.0804	0	0	0.0119	0.0029	0.0030	0.0055	0.0051	0.0084	0.0084	0.0067	0.0101	0.0508	0.0080	0.0079	0.0479	0.0467	0.0014	0	0.0508	0	0.0004	0.0146	0	0.0034	0.0128	0.0054	0.008	0.58626	D	0.022	0.57587	D	0.99	0.63424	D	0.657	0.52725	P	.	.	.	.	0.999999	0.08975	N	2.085	0.57729	M	0.68	0.51952	T	-1.46	0.35792	N	0.137	0.13484	-1.1202	0.02319	T	0.021	0.08686	T	9	0.002135545	0.00031	T	.	.	.	0.193	0.47281	.	.	.	.	0.20466105173852012	0.20383	0.604538799879	0.55388	0.380866736174	0.22379	T	0.091463	0.38801	T	-0.436624	0.01354	T	-0.337424	0.40636	T	0.0120065135329067	0.00189	T	0.59504	0.22051	T	0.073619634	0.16465	0.089792505	0.21019	0.06872856	0.14997	0.089792505	0.21018	-6.161	0.47607	T	0.4338562103322819	0.52053	0.211	0.43949	B	.	.	2.856298	0.37726	20.6	0.99663980041635425	0.78138	0.08123	0.14090	N	AEFDBI	0.085725	0.17378	N	-0.152738319141504	0.35118	2.013125	-0.355627239107991	0.26335	1.453963	0.997528238130017	0.35716	0.700653	0.57754	0	0.491513	0.07743	0	0.717052	0.78885	0	0.542086	0.14980	0	.	.	4.61	2.42	0.28720	0.759000	0.26127	2.242000	0.31619	0.676000	0.76740	0.036000	0.20778	0.968000	0.29604	0.067000	0.16453	0.1705:0.1536:0.6759:0.0	6.333	0.20485	878	0.29785	.	.	.	.	.	rs61740509	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1804.98	34	chr17	80099686	.	G	A	1804.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.86;DP=1291;ExcessHet=0.0000;FS=0.677;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.44;ReadPosRankSum=-1.956e+00;SOR=0.796	GT:AD:DP:GQ:PL	0/0:76,0:76:99:0,120,1800	20	0	1	0
chr17	80182770	80182770	T	C	exonic	CARD14	.	nonsynonymous SNV	CARD14:NM_001257970:exon3:c.T329C:p.V110A	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	531988	Pityriasis_rubra_pilaris|Psoriasis_2|CARD14-related_disorder	MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.4	T	0.533	P	0.185	B	0.044	N	0.971	N	1.59	L	1.75	T	-1.066	T	0.035	T	0.131	-0.096	3.528	3.0	0.436	1.394	8.485	0.017	0.00330826240162	0.0024	0.00179712	0.0006	0.0069	0	0	0	0	0	0	0.0005433	84	154602	rs138139140	0.0001	0.0001	0.0002	0.0001	0.0054	0.0001	0.0001	0.0048	0.0045	0.0054	4.472e-05	0	0	0	0	0	0.0003	4.637e-05	0.0017	0.0017	0.0019	0.0015	0.0059	0.0015	0.0015	0.0053	0.0051	0.0059	0	0.0006	0	0	0	0	0	0.0009	0.0002	0.317	0.13699	T	0.034	0.52727	D	0.533	0.37766	P	0.185	0.36047	B	0.044070	0.23675	N	0.421154	0.999999	0.08975	N	1.59	0.40313	L	1.75	0.26152	T	-0.23	0.10656	N	0.307	0.34659	-1.0660	0.10316	T	0.035	0.14987	T	10	0.007148564	0.00162	T	0.003308	0.07359	T	0.017	0.02790	.	.	0.548865971634	0.54542	0.5495610579162061	0.54882	0.280332731351	0.30512	0.38028433919	0.22297	T	0.02687	0.19793	T	-0.601379	0.00143	T	-0.633169	0.10175	T	0.0171798048872352	0.00462	T	0.551245	0.19007	T	0.038730673	0.05215	0.04818468	0.07102	0.037523117	0.04827	0.04282806	0.05189	-10.109	0.74562	D	0.28131416363418144	0.37667	0.239	0.47524	B	.;.;.;.	.;.;.;.	1.592490	0.20368	14.72	0.64859284193375022	0.07610	0.07920	0.13907	N	AEFDBI	0.056982	0.10577	N	-0.594201594922047	0.19119	0.9981909	-0.680220361025936	0.17456	0.9282567	9.63544668493079E-5	0.04910	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.11	3.0	0.33773	1.111000	0.30773	3.078000	0.36228	0.605000	0.46263	0.020000	0.19661	0.708000	0.26274	0.004000	0.06068	0.0:0.0:0.1972:0.8028	8.485	0.32228	884	0.28482	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2508.98	33	chr17	80182770	.	T	C	2508.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.870e-01;DP=922;ExcessHet=0.0000;FS=2.305;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=0.038;SOR=0.537	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1349	20	0	1	0
chr17	80184089	80184089	G	C	exonic	CARD14	.	nonsynonymous SNV	CARD14:NM_001257970:exon4:c.G526C:p.D176H	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	.	0	1519	3	0	0	3	0.000986518	.	.	532351	Autoinflammatory_syndrome|Pityriasis_rubra_pilaris|Psoriasis_2	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.995	D	0.843	P	0.000	D	1.000	D	1.7	L	1.32	T	-0.902	T	0.085	T	0.307	3.629	18.46	3.58	1.708	5.450	14.275	0.081	.	0.0002	0.00459265	0.0050	0	0.0007	0.0338	0.0136	0.0041	0.0110	0.0010	0.0021798	337	154602	rs144475004	0.0013	0.0014	0.0013	0.0013	0.0203	0.0013	0.0012	0.0191	0.0187	0	0	0	0.0203	0.0101	0.0003	0.0004	0.0017	0.0004	0.0019	0.0019	0.0014	0.0023	0.0193	0.0017	0.0016	0.0162	0.0151	4.809e-05	0	6.532e-05	0	0.0193	0.0114	0	0.0008	0.0009	0.0008	0.032	0.44694	D	0.007	0.69154	D	0.995	0.67487	D	0.843	0.60313	P	0.000120	0.50451	D	0.169696	0.997655	0.44071	D	2.52	0.73523	M	1.32	0.35219	T	-0.73	0.20576	N	0.252	0.28498	-0.9018	0.47803	T	0.085	0.33071	T	10	0.0063112676	0.00142	T	.	.	.	0.081	0.23632	.	.	0.731234310907	0.72884	0.260509316752053	0.25964	0.61528847301	0.56016	0.668275952339	0.62591	T	0.023193	0.17750	T	-0.446277	0.01188	T	-0.398886	0.33512	T	0.0517372781501264	0.05801	T	0.794521	0.43681	T	0.14853631	0.33907	0.18845627	0.42137	0.14513782	0.33283	0.21749687	0.46416	-9.193	0.69469	D	0.7538170294554659	0.83585	0.379	0.58352	A	.;.;.;.	.;.;.;.	4.327703	0.66282	24.9	0.99514570212142561	0.68858	0.88260	0.48108	D	AEFDBI	0.610436	0.59926	D	0.476682439432115	0.65732	4.859522	0.420290595177596	0.62829	4.505288	0.99961470524687	0.40981	0.549168	0.22868	0	0.627178	0.54094	0	0.505578	0.09266	0	0.542086	0.14980	0	.	.	3.58	3.58	0.40133	5.194000	0.64964	6.648000	0.56206	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.735000	0.35267	0.0:0.0:1.0:0.0	14.275	0.65723	884	0.28482	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2884.98	34	chr17	80184089	.	G	C	2884.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.284;DP=960;ExcessHet=0.0000;FS=5.243;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.12;ReadPosRankSum=0.217;SOR=0.752	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1173	20	0	1	0
chr17	80184162	80184162	G	A	exonic	CARD14	.	nonsynonymous SNV	CARD14:NM_001257970:exon4:c.G599A:p.S200N	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	.	0	1494	25	1	2	29	0.00895522	.	.	79677	Pityriasis_rubra_pilaris|Psoriasis_2|not_provided|Autoinflammatory_syndrome	MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.365	N	1.000	N	-0.46	N	1.38	T	-0.992	T	0.017	T	0.012	-2.373	0.004	-3.66	-0.492	-0.119	5.853	0.019	.	.	0.00219649	0.0110	0.0025	0.0058	0	0.0037	0.0140	0.0190	0.0120	0.0047218	730	154602	rs114688446	0.0076	0.0075	0.0074	0.0077	0.0082	0.0074	0.0074	0.0077	0.0077	0.0009	0.0022	0.0193	0	0.0055	0.0076	0.0079	0.0093	0.0082	0.0059	0.0059	0.0061	0.0058	0.0088	0.0056	0.0055	0.0082	0.0080	0.0012	0.0263	0.0052	0.0141	0	0.0052	0.0136	0.0088	0.0038	0.0075	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.364763	0.13616	N	0.717962	1	0.08975	N	0.025	0.08010	N	1.38	0.34050	T	1.25	0.01011	N	0.044	0.01658	-0.9915	0.32218	T	0.017	0.07092	T	10	0.003829211	0.00072	T	.	.	.	0.019	0.03383	.	.	0.402471007487	0.39861	0.04298658703997481	0.04243	0.137527042465	0.15505	0.439996689558	0.30577	T	0.004751	0.04164	T	-0.738554	0.00021	T	-0.826125	0.01333	T	0.000785814729074534	0.00007	T	0.552145	0.19060	T	0.03255677	0.03305	0.05866523	0.10878	0.039173733	0.05359	0.060511973	0.11535	-6.907	0.54789	T	0.1199088770354703	0.11220	0.097	0.15966	B	.;.;.;.	.;.;.;.	-0.966692	0.00820	0.028	0.19516134826937834	0.00662	0.00717	0.03025	N	AEFDBI	0.032680	0.03735	N	-1.67117466872922	0.00949	0.04110583	-1.68207961245203	0.01218	0.0548863	0.0168506280012361	0.12881	0.549168	0.22868	0	0.627178	0.54094	0	0.505578	0.09266	0	0.542086	0.14980	0	.	.	3.58	-3.66	0.04200	-0.279000	0.08512	-0.062000	0.12412	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.356000	0.25796	0.5403:0.1435:0.3162:0.0	5.853	0.17952	884	0.28482	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2253.98	177	chr17	80184162	.	G	A	2253.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.700e-01;DP=1059;ExcessHet=0.0000;FS=5.338;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.73;ReadPosRankSum=0.244;SOR=0.498	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1173	20	0	1	0
chr17	80222676	80222676	A	C	exonic	SLC26A11	.	nonsynonymous SNV	SLC26A11:NM_001166348:exon3:c.A256C:p.M86L	.	.	424	1086	12	0	0	12	0.00549451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.021	B	0.025	B	0.001	N	0.926	D	0.21	N	-2.6	D	-0.742	T	0.306	T	0.347	0.545	6.951	0.919	0.089	2.385	8.384	0.294	.	0.0012	0.0081869	0.0052	9.61e-05	0.0004	0.0162	0.0035	0.0022	0.0066	0.0186	0.0046507	719	154602	rs141472706	0.0028	0.0028	0.0023	0.0034	0.0201	0.0028	0.0027	0.0189	0.0184	0.0008	0.0009	0.0179	0.0201	0.0032	0.0068	0.0006	0.0041	0.0188	0.0025	0.0025	0.0021	0.0029	0.0197	0.0023	0.0022	0.0166	0.0155	0.0003	0	0.0006	0.0153	0.0197	0.0043	0.0034	0.0010	0.0028	0.0168	0.106	0.29688	T	0.296	0.35582	T	0.021	0.18474	B	0.025	0.20508	B	0.001116	0.40219	N	0.310553	0.926442	0.36834	D	0.16	0.08945	N	-2.6	0.89888	D	-2.06	0.47175	N	0.598	0.61849	-0.7417	0.58365	T	0.306	0.67639	T	10	0.012810349	0.00375	T	.	.	.	0.294	0.61388	0.467	0.53891	0.50466331119	0.50103	0.6310794538286547	0.63041	0.108274543893	0.12206	0.48755222559	0.37100	T	0.39481	0.86879	T	-0.297286	0.08918	T	-0.184212	0.56131	T	0.00872753039014649	0.00107	T	0.926807	0.74412	D	0.2601104	0.49066	0.2477093	0.50306	0.2601104	0.49066	0.2477093	0.50305	-7.554	0.57989	D	.	.	0.156	0.38409	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.802983	0.22914	15.81	0.6047288325853053	0.06472	0.96883	0.71458	D	AEFDGBI	0.518418	0.54413	D	-0.933929777757009	0.10055	0.4787471	-0.800900294125512	0.14474	0.7564247	0.0858371849169665	0.15993	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.37	0.919	0.18518	2.379000	0.43973	2.898000	0.35432	-0.126000	0.13398	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.5771:0.0:0.4229:0.0	8.384	0.31651	835	0.38313	SLC26A/SulP transporter domain|Sulphate anion transporter, conserved site;.;SLC26A/SulP transporter domain|Sulphate anion transporter, conserved site;SLC26A/SulP transporter domain|Sulphate anion transporter, conserved site;SLC26A/SulP transporter domain|Sulphate anion transporter, conserved site;SLC26A/SulP transporter domain|Sulphate anion transporter, conserved site;SLC26A/SulP transporter domain|Sulphate anion transporter, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1284.98	42	chr17	80222676	.	A	C	1284.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.284;DP=804;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.85;ReadPosRankSum=-7.860e-01;SOR=0.710	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1170	20	0	1	0
chr17	80225867	80225867	C	G	exonic	SLC26A11	.	nonsynonymous SNV	SLC26A11:NM_001166348:exon5:c.C544G:p.P182A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.064	B	0.077	B	0.027	N	0.994	N	0.73	N	-3.08	D	-0.603	T	0.322	T	0.211	1.026	9.192	4.09	1.811	3.003	12.703	0.241	.	0.0108	0.00878594	0.0032	0.0352	0.0012	0	0	1.499e-05	0.0022	0.0001	0.0029948	463	154602	rs115961261	0.0009	0.0009	0.0010	0.0007	0.0313	0.0008	0.0008	0.0297	0.0291	0.0313	0.0019	0	0	0	0.0002	1.529e-05	0.0018	9.275e-05	0.0100	0.0100	0.0110	0.0090	0.0338	0.0096	0.0094	0.0324	0.0318	0.0338	0	0.0067	0	0	0	0	1.471e-05	0.0085	0	0.515	0.07378	T	0.655	0.06621	T	0.064	0.23455	B	0.077	0.28532	B	0.026961	0.25836	N	0.424346	0.993634	0.23676	N	-0.375	0.03072	N	-3.08	0.92560	D	-0.01	0.07155	N	0.278	0.31814	-0.6028	0.64701	T	0.322	0.69108	T	10	0.0068176985	0.00155	T	.	.	.	0.241	0.54641	.	.	0.614776886339	0.61167	0.3562458375326955	0.35538	0.10966097076	0.12367	0.348615646362	0.17719	T	0.148812	0.65039	T	-0.345933	0.04988	T	-0.243923	0.50415	T	0.011828016290555	0.00184	T	0.458954	0.18049	T	0.05877391	0.11866	0.050321903	0.07875	0.05877391	0.11866	0.050321903	0.07875	-2.219	0.04133	T	.	.	0.075	0.12797	B	.;.;.;.;.	.;.;.;.;.	3.099988	0.41772	21.4	0.78151701610736779	0.12177	0.96026	0.67198	D	AEFDGBI	0.189333	0.31659	N	-0.252675135825654	0.30996	1.73376	-0.0952276601742009	0.35586	2.060663	0.978242239718995	0.29902	0.706548	0.73137	0	0.633656	0.55848	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.09	4.09	0.47038	3.070000	0.49732	4.734000	0.44570	0.549000	0.26987	0.999000	0.42656	1.000000	0.68203	0.951000	0.49849	0.0:0.8328:0.1672:0.0	12.703	0.56412	840	0.37365	SLC26A/SulP transporter domain;SLC26A/SulP transporter domain;SLC26A/SulP transporter domain;SLC26A/SulP transporter domain;SLC26A/SulP transporter domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	999.98	33	chr17	80225867	.	C	G	999.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.873;DP=826;ExcessHet=0.0000;FS=3.352;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.63;ReadPosRankSum=0.856;SOR=0.686	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1302	20	0	1	0
chr17	80237084	80237084	C	T	exonic	SLC26A11	.	nonsynonymous SNV	SLC26A11:NM_001166348:exon7:c.C893T:p.S298F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.993	D	0.914	D	0.000	D	1.000	D	2.94	M	-3.24	D	0.635	D	0.815	D	0.588	3.372	17.37	5.16	2.376	5.533	18.230	0.617	.	0.0071	0.00778754	0.0022	0.0246	0.0007	0	0	3.01e-05	0	0	0.0020504	317	154602	rs61910709	0.0006	0.0006	0.0007	0.0005	0.0219	0.0006	0.0006	0.0206	0.0201	0.0219	0.0013	0	0	0	0	3.69e-05	0.0012	5.798e-05	0.0069	0.0070	0.0075	0.0064	0.0239	0.0066	0.0064	0.0227	0.0222	0.0239	0	0.0033	0	0	0	0	0	0.0052	0	0.005	0.63226	D	0.004	0.74150	D	0.993	0.65571	D	0.914	0.64984	D	0.000191	0.48115	D	0.214248	0.999992	0.58761	D	3.295	0.90403	M	-3.24	0.93474	D	-3.8	0.71762	D	0.479	0.51405	0.635	0.92351	D	0.815	0.93762	D	10	0.010312349	0.00230	T	.	.	.	0.617	0.85091	.	.	0.75816328593	0.75596	0.8591040570486586	0.85873	0.562199136675	0.52709	0.46896559	0.34537	T	0.611295	0.87685	D	-0.126797	0.32016	T	0.064012	0.74511	D	0.0702451492061873	0.08685	T	0.859214	0.57909	D	0.36967725	0.58561	0.25877097	0.51614	0.36967725	0.58561	0.25877097	0.51614	-10.768	0.78371	D	.	.	0.137	0.59793	B	.;.;.;.;.	.;.;.;.;.	3.780202	0.54344	23.5	0.99754621397988297	0.84537	0.99435	0.95993	D	AEFDBI	0.615801	0.60260	D	0.564090470159797	0.70946	5.576559	0.454748469421478	0.65023	4.771481	0.999999926387031	0.74766	0.718356	0.82227	0	0.670034	0.63936	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	5.16	5.16	0.70563	5.603000	0.67304	3.811000	0.39910	0.454000	0.21428	0.980000	0.35271	0.995000	0.32472	0.069000	0.16583	0.0:1.0:0.0:0.0	18.230	0.89869	867	0.32089	SLC26A/SulP transporter domain;SLC26A/SulP transporter domain;SLC26A/SulP transporter domain;SLC26A/SulP transporter domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1081.98	33	chr17	80237084	.	C	T	1081.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.300;DP=805;ExcessHet=0.0000;FS=0.800;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=-3.410e-01;SOR=0.562	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1070	20	0	1	0
chr17	80251341	80251341	C	T	exonic	SLC26A11	.	nonsynonymous SNV	SLC26A11:NM_001166348:exon16:c.C1669T:p.R557C	.	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.998	D	0.809	P	0.351	N	1.000	N	1.67	L	-2.47	D	-0.398	T	0.413	T	0.374	1.486	10.91	3.01	1.193	0.747	4.944	0.345	.	0.0103	0.0115815	0.0031	0.0345	0.0011	0	0	5.994e-05	0	0	0.0029624	458	154602	rs80293861	0.0010	0.0010	0.0011	0.0009	0.0332	0.0009	0.0009	0.0315	0.0309	0.0332	0.0023	0	0	5.617e-05	0.0010	6.025e-05	0.0022	0.0001	0.0095	0.0096	0.0101	0.0090	0.0332	0.0091	0.0090	0.0317	0.0311	0.0332	0	0.0039	0	0	9.413e-05	0.0034	5.88e-05	0.0057	0	0.027	0.46513	D	0.043	0.49942	D	0.998	0.73220	D	0.809	0.58564	P	0.350956	0.13816	N	0.731071	0.999985	0.18198	N	2.505	0.72935	M	-2.47	0.88997	D	-3.89	0.72820	D	0.559	0.67132	-0.3977	0.72100	T	0.413	0.76109	T	10	0.0074989498	0.00170	T	.	.	.	0.345	0.66676	.	.	0.772969789451	0.77088	0.34807268726561874	0.34721	0.546565286845	0.51647	0.38017603755	0.22281	T	0.454518	0.79404	T	-0.27081	0.11668	T	-0.135317	0.60522	T	0.0533155063460791	0.06073	T	0.934906	0.75551	D	0.15669112	0.35347	0.13197486	0.31680	0.15669112	0.35347	0.13197486	0.31679	-9.729	0.72273	D	.	.	0.127	0.27039	B	.;.;.;.	.;.;.;.	5.170194	0.86660	29.0	0.91439834167034395	0.20708	0.06467	0.12475	N	AEFDBI	0.040583	0.06057	N	0.10172130361871	0.46542	2.893039	0.00744784722571219	0.40060	2.384809	0.149529018604441	0.17416	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.2	3.01	0.33872	1.660000	0.37013	5.666000	0.49237	0.591000	0.32079	0.782000	0.29497	0.978000	0.30204	0.783000	0.37026	0.1693:0.6087:0.0:0.222	4.944	0.13331	878	0.29785	STAS domain|STAS domain;STAS domain|STAS domain;STAS domain|STAS domain;STAS domain|STAS domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	479.98	35	chr17	80251341	.	C	T	479.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.185;DP=730;ExcessHet=0.0000;FS=1.115;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=0.882;SOR=0.899	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1101	20	0	1	0
chr17	80273325	80273325	C	T	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon3:c.C182T:p.P61L	.	.	0	1513	9	0	0	9	0.0029654	.	.	727515	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.05	D	0.001	B	0.001	B	.	.	1.000	N	0.345	N	0.09	T	-1.033	T	0.050	T	0.042	0.531	6.875	-4.92	-1.012	-0.445	10.455	0.094	.	0.0048	0.0109824	0.0051	0.0156	0.0009	0.0112	0	0.0002	0.0034	0.0201	0.004586	709	154602	rs9913317	0.0025	0.0025	0.0020	0.0029	0.0265	0.0024	0.0024	0.0251	0.0246	0.0168	0.0011	3.826e-05	0.0265	0	0.0024	9.892e-05	0.0038	0.0187	0.0059	0.0059	0.0058	0.0060	0.0201	0.0056	0.0054	0.0169	0.0157	0.0161	0	0.0021	0.0003	0.0116	0	0.0068	0.0002	0.0099	0.0201	0.545	0.06691	T	0.382	0.37173	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.315	0.03579	N	0.09	0.61443	T	-1.55	0.37566	N	0.092	0.07125	-1.0334	0.19363	T	0.050	0.21378	T	9	0.0037269592	0.00069	T	.	.	.	0.094	0.27141	.	.	0.115124310173	0.11017	.	.	0.334571908393	0.35472	0.218168541789	0.01206	T	0.028635	0.20698	T	-0.658715	0.00064	T	-0.704039	0.05607	T	0.00341183516672121	0.00036	T	0.509249	0.18074	T	.	.	.	.	.	.	.	.	-3.706	0.19407	T	.	.	0.074	0.05060	B	.;.;.	.;.;.	0.010345	0.04355	1.115	0.74206138924206622	0.10609	0.01612	0.05219	N	AEFGBCI	0.013108	0.00163	N	-1.51726959490494	0.01736	0.07600281	-1.60656953279267	0.01616	0.07331439	0.219053607184007	0.18333	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.49	-4.92	0.02848	-0.299000	0.08291	-0.682000	0.07881	-0.858000	0.02657	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2455:0.0:0.7545	10.455	0.43730	895	0.25842	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	1611.98	35	chr17	80273325	.	C	T	1611.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=888;ExcessHet=0.0000;FS=2.122;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=1.04;SOR=0.937	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr17	80336256	80336256	G	C	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon23:c.G4405C:p.V1469L,	.	.	0	1521	1	0	0	1	0.000328623	.	.	715793	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.07	T	0.99	D	0.858	P	.	.	1.000	D	2.255	M	.	.	-0.504	T	0.178	T	0.616	1.476	10.88	4.5	1.313	5.609	14.005	0.242	.	0.0103	0.0105831	0.0030	0.0270	0.0065	0	0	0	0.0060	0	0.0009702	150	154602	rs116694967	0.0010	0.0009	0.0011	0.0008	0.0337	0.0009	0.0009	0.0320	0.0313	0.0337	0.0020	0	0	0	0.0018	5.932e-05	0.0020	0.0002	0.0100	0.0100	0.0102	0.0097	0.0339	0.0095	0.0094	0.0324	0.0318	0.0339	0	0.0056	0	0	0	0	4.41e-05	0.0090	0.0004	0.027	0.46513	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.798166	0.34475	D	.	.	.	1.65	0.27822	T	-2.61	0.56144	D	0.55	0.57604	-0.5037	0.68516	T	0.178	0.52318	T	8	0.0087476075	0.00198	T	.	.	.	0.242	0.54781	.	.	0.384086055536	0.38021	.	.	0.330047145895	0.35094	0.512175440788	0.40526	T	0.159231	0.55922	T	-0.35855	0.04213	T	-0.262742	0.48549	T	0.0664154876685062	0.08138	T	0.862414	0.55771	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	0.51917	B	.;.	.;.	2.445274	0.31476	18.75	0.78815816406087535	0.12465	0.98552	0.84009	D	AEFBI	0.640723	0.61831	D	0.482948651418825	0.66095	4.905945	0.405503467591139	0.61905	4.397576	0.62225105749941	0.21896	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.47	4.5	0.54382	5.717000	0.68096	4.391000	0.43214	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.185000	0.21450	0.073:0.0:0.9269:0.0	14.005	0.63972	862	0.33134	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	2218.98	42	chr17	80336256	.	G	C	2218.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.15;DP=916;ExcessHet=0.0000;FS=3.800;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=0.920;SOR=1.036	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1301	20	0	1	0
chr17	80344886	80344886	A	G	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon29:c.A6551G:p.Q2184R,	.	.	0	1498	23	1	0	25	0.00827541	.	.	715797	RNF213-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.83	T	0.0	B	0.0	B	0.614	N	1.000	N	0.365	N	1.95	T	-0.964	T	0.020	T	0.07	-0.450	1.915	-0.534	-0.163	-0.548	2.551	0.030	0.00360495360684	0.0022	0.00159744	0.0024	0.0004	0.0018	0	0.0002	0.0031	0.0066	0.0028	0.0024579	380	154602	rs138595111	0.0038	0.0038	0.0037	0.0038	0.0099	0.0037	0.0036	0.0078	0.0071	0.0007	0.0017	0.0030	0	0.0006	0.0099	0.0042	0.0046	0.0029	0.0025	0.0025	0.0028	0.0023	0.0040	0.0023	0.0022	0.0036	0.0034	0.0007	0	0.0033	0.0032	0	0.0004	0.0170	0.0040	0.0033	0.0023	0.832	0.02869	T	0.895	0.03099	T	.	.	.	.	.	.	0.613810	0.10841	N	0.817583	1	0.08975	N	.	.	.	1.95	0.22474	T	-1.44	0.35399	N	0.043	0.01577	-0.9635	0.38507	T	0.020	0.08546	T	10	0.017392218	0.00371	T	0.003605	0.08247	T	0.030	0.07022	.	.	0.117506650769	0.11410	.	.	0.351483973545	0.36988	0.241480603814	0.02925	T	0.02384	0.18124	T	-0.666409	0.00058	T	-0.728522	0.04395	T	0.00173518910473408	0.00018	T	0.435856	0.11948	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.03093	B	.;.	.;.	-0.353405	0.02393	0.265	0.4294536971338907	0.03200	0.09017	0.14855	N	AEFDBI	0.052287	0.09317	N	-1.21672145797293	0.04757	0.2153734	-1.20906142747402	0.05764	0.2755305	5.79141037353422E-4	0.07363	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.57	-0.534	0.11289	-0.528000	0.06280	-1.396000	0.05538	-0.042000	0.17409	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.3959:0.1262:0.3553:0.1226	2.551	0.04459	856	0.34373	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	1667.98	33	chr17	80344886	.	A	G	1667.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.499e+00;DP=821;ExcessHet=0.0000;FS=0.636;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.36;ReadPosRankSum=-5.570e-01;SOR=0.609	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1225	20	0	1	0
chr17	80346013	80346013	C	T	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon29:c.C7678T:p.P2560S,	.	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.991	D	0.967	D	0.000	D	1.000	D	2.67	M	1.91	T	-0.703	T	0.196	T	0.396	2.473	14.23	5.13	2.646	7.529	18.759	0.265	0.0318653279283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999918	0.51042	D	.	.	.	1.72	0.26588	T	-7.66	0.95511	D	0.614	0.63120	-0.7031	0.60290	T	0.196	0.55013	T	10	0.7384324	0.74786	D	0.031865	0.53843	D	0.265	0.57870	.	.	0.575045364607	0.57173	.	.	1.08423785368	0.77231	0.767387509346	0.77033	T	0.284914	0.65770	T	-0.00925805	0.50369	T	-0.251075	0.49712	T	0.999060332775116	0.96056	D	0.980002	0.93225	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.585	0.68276	P	.;.	.;.	3.643750	0.51676	23.1	0.96507638980641508	0.30065	0.98849	0.87668	D	AEFDGBI	0.847648	0.76450	D	0.818593130469345	0.87252	9.154863	0.753970942322189	0.86454	8.894099	0.999999999449475	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.13	5.13	0.69729	7.603000	0.82048	7.564000	0.60548	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0:1.0:0.0:0.0	18.759	0.91809	856	0.34373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2991.98	36	chr17	80346013	.	C	T	2991.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.95;DP=1195;ExcessHet=0.0000;FS=2.456;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.34;ReadPosRankSum=0.196;SOR=0.880	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr17	80361819	80361819	A	T	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon39:c.A11286T:p.E3762D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.016	B	0.016	B	0.048	N	0.971	N	1.3	L	1.82	T	-1.101	T	0.033	T	0.147	2.294	13.63	-11.4	-2.488	-0.179	11.188	0.035	0.00415516574626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.15876	T	0.083	0.41405	T	.	.	.	.	.	.	0.048151	0.23278	N	0.463402	1	0.08975	N	.	.	.	1.81	0.25344	T	-1.04	0.27259	N	0.139	0.13769	-1.1005	0.04032	T	0.033	0.14160	T	10	0.04982707	0.04627	T	0.004155	0.09963	T	0.035	0.08770	.	.	0.166414681773	0.16258	.	.	0.141411337327	0.15943	0.234671488404	0.02331	T	0.028433	0.20614	T	-0.269827	0.11775	T	-0.625364	0.10768	T	0.142268881201744	0.16469	T	0.525947	0.17303	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.25656	B	.;.	.;.	-1.338363	0.00406	0.008	0.72281991509266252	0.09919	0.11066	0.16384	N	AEFBHCI	0.070962	0.14107	N	-1.71194289333736	0.00800	0.03457941	-1.85717295002011	0.00593	0.02633743	0.999995959607597	0.74766	0.712529	0.81865	0	0.702456	0.74545	0	0.635938	0.45252	0	0.691587	0.68394	0	.	.	5.68	-11.4	0.00070	-0.145000	0.10248	-2.298000	0.03933	-1.424000	0.01122	0.003000	0.16062	0.000000	0.08366	0.025000	0.12405	0.0805:0.308:0.535:0.0765	11.188	0.47896	873	0.30802	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	782.98	33	chr17	80361819	.	A	T	782.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.467e+00;DP=768;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=0.282;SOR=0.584	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,993	20	0	1	0
chr17	80383801	80383801	A	C	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon59:c.A14195C:p.K4732T,	.	.	0	1519	3	0	0	3	0.000986518	.	.	206598	See_cases|not_provided|Moyamoya_disease_2	.|MedGen:C3661900|MONDO:MONDO:0011784,MedGen:C1846689,OMIM:607151,Orphanet:2573	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.25	T	0.514	P	0.113	B	0.928	N	1.000	N	1.61	L	0.67	T	-1.026	T	0.087	T	0.303	0.312	5.689	-3.21	-0.493	1.356	6.212	0.065	0.0197892173359	0.0004	0.00119808	0.0009	0	0.0003	0	0	0.0004	0	0.0053	0.0008344	129	154602	rs148776624	0.0004	0.0004	0.0004	0.0005	0.0036	0.0004	0.0004	0.0033	0.0031	5.974e-05	0.0003	0.0011	2.519e-05	0	0.0019	0.0002	0.0008	0.0036	0.0003	0.0003	0.0002	0.0004	0.0046	0.0002	0.0002	0.0031	0.0026	0	0	0.0002	0.0006	0	0	0	0.0003	0.0009	0.0046	0.071	0.35165	T	0.094	0.39645	T	.	.	.	.	.	.	0.927962	0.07517	N	1.032410	1	0.08975	N	.	.	.	0.67	0.52187	T	-2.07	0.47344	N	0.189	0.20793	-1.0259	0.21788	T	0.087	0.33857	T	10	0.0052307546	0.00114	T	0.019789	0.42241	T	0.065	0.18881	.	.	0.232513804876	0.22884	.	.	0.185846097654	0.20895	0.265518128872	0.05566	T	0.031759	0.22187	T	-0.465662	0.00906	T	-0.442506	0.28528	T	0.0244913458475225	0.01207	T	0.564843	0.19943	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.13362	B	.;.	.;.	0.087563	0.04920	1.497	0.83730463766838881	0.14888	0.28534	0.23580	N	AEFBCI	0.128930	0.24690	N	-0.953154114446409	0.09622	0.4562016	-1.08026220582413	0.08089	0.3962324	0.196319604012112	0.18064	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.16	-3.21	0.04823	1.377000	0.33923	-0.673000	0.07925	-0.092000	0.16129	0.000000	0.06391	0.000000	0.08366	0.679000	0.33513	0.4449:0.3448:0.2102:0.0	6.212	0.19848	825	0.40060	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	1235.98	37	chr17	80383801	.	A	C	1235.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.088e+00;DP=852;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=-2.378e+00;SOR=0.697	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,111,1665	20	0	1	0
chr17	80421910	80421910	T	G	exonic	ENDOV	.	nonsynonymous SNV	ENDOV:NM_001352760:exon3:c.T311G:p.L104W	.	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.986	D	0.000	D	1.000	N	3.24	M	2.02	T	-0.576	T	0.176	T	0.802	3.933	20.1	4.63	1.936	6.265	12.411	0.443	0.123468442586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-06	1.368e-06	1.363e-06	1.378e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.168e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.79402	D	1.0	0.90584	D	0.986	0.76916	D	0.000140	0.49741	D	0.081024	1	0.81001	D	4.11	0.97368	H	2.02	0.21119	T	-4.93	0.85844	D	0.766	0.76388	-0.5762	0.65768	T	0.176	0.52100	T	10	0.88367677	0.87686	D	0.123468	0.80464	D	0.443	0.74588	0.719	0.85408	0.691544918794	0.68889	0.8446752353531759	0.84428	0.219995407713	0.24543	0.474604427814	0.35314	T	0.199397	0.55666	T	0.137451	0.68081	D	-0.0403378	0.67679	D	0.996739327907562	0.89968	D	0.927707	0.86607	D	0.9600239	0.97282	0.94512755	0.98098	0.9600239	0.97283	0.94512755	0.98098	-14.999	0.95850	D	.	.	0.731	0.74261	P	.;.;.;.;.;.	.;.;.;.;.;.	4.670601	0.74647	26.2	0.96151163512591797	0.28869	0.87047	0.46471	D	AEFDBHCI	0.814339	0.73659	D	0.739941610336423	0.82247	7.716153	0.630819565969092	0.77189	6.631744	0.998286029800863	0.36695	0.660377	0.49826	0	0.694456	0.67091	0	0.489635	0.07774	0	0.664235	0.64389	0	.	.	4.63	4.63	0.57175	6.481000	0.73517	4.908000	0.45924	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.801000	0.37776	0.0:0.0:0.0:1.0	12.411	0.54800	804	0.43891	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	824.98	35	chr17	80421910	.	T	G	824.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.92;DP=751;ExcessHet=0.0000;FS=4.010;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.86;ReadPosRankSum=-2.840e-01;SOR=1.414	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1218	20	0	1	0
chr17	80885137	80885137	A	G	exonic	RPTOR	.	nonsynonymous SNV	RPTOR:NM_020761:exon17:c.A1972G:p.M658V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.0	B	0.0	B	0.000	N	1.000	D	0.83	L	1.38	T	-1.087	T	0.050	T	0.081	0.969	8.956	-0.119	-0.002	1.063	8.429	0.072	0.0108688925791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.56e-06	3.42e-06	4.219e-06	2.885e-06	3.696e-06	1.04e-06	7.6e-07	8.7e-07	5.8e-07	0	0	0	0	0	0	3.696e-06	1.715e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303	0.14352	T	0.094	0.39645	T	0.0	0.02946	B	0.0	0.01387	B	0.000032	0.55875	N	0.118601	0.608912	0.81001	D	-0.895	0.01383	N	1.38	0.34050	T	-1.16	0.29727	N	0.215	0.24010	-1.0867	0.06102	T	0.050	0.21378	T	10	0.095544636	0.17073	T	0.010869	0.27894	T	0.072	0.21020	0.534	0.64293	0.117191471859	0.11215	0.357932321039279	0.35707	0.689860010486	0.60504	0.255832314491	0.04406	T	0.431022	0.77928	T	-0.289475	0.09688	T	-0.653587	0.08705	T	0.0974128916859627	0.12070	T	0.889911	0.62289	D	0.09160972	0.21470	0.07873759	0.17663	0.09160972	0.21469	0.07873759	0.17662	-4.79	0.34475	T	.	.	0.037	0.00007	B	.	.	0.749293	0.11188	7.825	0.79552010383278349	0.12793	0.38805	0.26071	N	AEFDBI	0.047864	0.08107	N	-0.77538519978521	0.13953	0.69125	-0.666542265245855	0.17800	0.9480692	0.379754693836013	0.19950	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.78	-0.119	0.12883	1.087000	0.30476	1.159000	0.24539	-0.208000	0.08445	0.820000	0.29989	0.241000	0.23851	0.945000	0.48827	0.6436:0.0:0.3564:0.0	8.429	0.31910	773	0.48803	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	645.98	35	chr17	80885137	.	A	G	645.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.750e-01;DP=797;ExcessHet=0.0000;FS=5.455;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.95;ReadPosRankSum=4.000e-03;SOR=1.258	GT:AD:DP:GQ:PL	0/1:60,33:93:99:660,0,1435	20	0	1	0
chr17	81099956	81099956	G	A	exonic	BAIAP2	.	nonsynonymous SNV	BAIAP2:NM_001385150:exon5:c.G284A:p.G95D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.997	D	0.905	P	0.000	D	1.000	D	1.355	L	1.94	T	-1.057	T	0.128	T	0.491	3.773	19.16	5.27	2.459	4.845	18.895	0.090	0.0135401794126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.35918	T	0.099	0.46182	T	0.875	0.57405	P	0.445	0.60045	B	0.000001	0.84330	D	0.095072	0.999883	0.50402	D	1.1	0.28011	L	1.51	0.31731	T	-1.31	0.32791	N	0.667	0.71410	-1.0567	0.12595	T	0.128	0.43585	T	10	0.33673078	0.50808	T	0.01354	0.33021	T	0.090	0.26093	0.344	0.33788	0.869081438439	0.86780	0.358442193590283	0.35758	1.72282248661	0.90611	0.691663742065	0.65946	T	0.339766	0.70887	T	-0.0894958	0.38160	T	-0.366331	0.37318	T	0.765682995319366	0.44183	D	0.948205	0.81731	D	0.5143458	0.67933	0.36426824	0.61798	0.5143458	0.67934	0.36426824	0.61797	-15.011	0.95878	D	.	.	0.307	0.61093	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	4.358603	0.67009	25.0	0.99755617860320722	0.84615	0.95266	0.64057	D	AEFDGBI	0.762683	0.70002	D	0.292355521431058	0.55761	3.740178	0.326131937126945	0.57079	3.872634	0.999609461553405	0.40866	0.706298	0.61202	0	0.588066	0.40923	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.27	5.27	0.73797	4.148000	0.57856	11.665000	0.94033	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.897000	0.43391	0.0:0.0:1.0:0.0	18.895	0.92392	.	.	.;.;.;IMD/I-BAR domain|IMD/I-BAR domain;.;IMD/I-BAR domain|IMD/I-BAR domain;IMD/I-BAR domain|IMD/I-BAR domain;IMD/I-BAR domain|IMD/I-BAR domain;IMD/I-BAR domain|IMD/I-BAR domain;IMD/I-BAR domain|IMD/I-BAR domain;IMD/I-BAR domain|IMD/I-BAR domain;IMD/I-BAR domain|IMD/I-BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1100.98	36	chr17	81099956	.	G	A	1100.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.800e-02;DP=787;ExcessHet=0.0000;FS=3.047;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.30;ReadPosRankSum=0.929;SOR=0.425	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1138	20	0	1	0
chr17	81106890	81106890	G	A	exonic	BAIAP2	.	nonsynonymous SNV	BAIAP2:NM_001385157:exon7:c.G754A:p.V252M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.99	D	0.507	P	0.004	N	0.924	N	1.445	L	1.91	T	-1.037	T	0.087	T	0.577	1.488	10.92	2.77	0.459	4.236	10.175	0.152	0.018677854566	.	.	0.0001	0	0.0003	0	0	0	0	0.0007	5.82e-05	9	154602	rs760813385	5.581e-05	5.951e-05	4.053e-05	7.142e-05	0.0005	4.554e-05	4.215e-05	0.0004	0.0003	0	5.028e-05	0	2.598e-05	4.037e-05	0.0002	2.663e-05	5.136e-05	0.0005	1.314e-05	1.313e-05	0	2.689e-05	0.0004	2.18e-06	8.2e-07	7.279e-05	3.025e-05	0	0	0	0	0	0	0	0	0	0.0004	0.216	0.38407	T	0.177	0.37730	T	0.903	0.60036	P	0.406	0.45338	B	0.003597	0.34740	N	0.273464	0.989178	0.27226	N	1.73	0.44655	L	1.4	0.33842	T	-0.4	0.15178	N	0.423	0.46274	-1.0366	0.18357	T	0.087	0.33802	T	10	0.12615547	0.23981	T	0.018678	0.40822	T	0.152	0.39956	0.367	0.37524	0.815302850236	0.81356	0.2386251048767557	0.23776	0.0410341155748	0.04401	0.501546740532	0.39043	T	0.190121	0.54457	T	-0.299762	0.08683	T	-0.321192	0.42443	T	0.138279422289467	0.16126	T	0.881612	0.60121	D	0.05505594	0.10648	0.071378164	0.15278	0.05505594	0.10647	0.071378164	0.15277	-9.065	0.70266	D	.	.	0.117	0.26138	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.891133	0.38292	20.7	0.98376271324980524	0.40801	0.96620	0.70057	D	AEFDBI	0.693560	0.65285	D	-0.064350687563439	0.38964	2.290271	-0.107924067414991	0.35070	2.024608	0.999265783248178	0.38940	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.78	2.77	0.31614	4.391000	0.59415	3.300000	0.37375	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.699000	0.34110	0.1677:0.0:0.8323:0.0	10.175	0.42111	.	.	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	714.98	34	chr17	81106890	.	G	A	714.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.072;DP=765;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=-9.910e-01;SOR=0.712	GT:AD:DP:GQ:PL	0/1:27,30:57:99:729,0,629	20	0	1	0
chr17	81229164	81229164	G	A	exonic	TEPSIN	.	nonsynonymous SNV	TEPSIN:NM_144679:exon12:c.C1342T:p.R448W	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.0	B	0.0	B	0.613	N	1.000	N	-0.69	N	-1.0	T	-0.964	T	0.118	T	0.084	1.452	10.80	2.17	0.543	0.022	7.338	0.210	0.0771190183751	0.0003	0.000199681	0.0002	0.0008	0.0002	0	0	0	0	0.0006	0.0001294	20	154602	rs146426214	0.0001	0.0001	0.0001	0.0001	0.0007	9.812e-05	9.227e-05	0.0005	0.0004	0.0007	0.0002	0	5.04e-05	0	0	8.185e-05	8.284e-05	0.0004	0.0004	0.0004	0.0004	0.0005	0.0012	0.0004	0.0003	0.0009	0.0009	0.0012	0	0.0005	0	0	0	0	8.88e-05	0.0005	0.0004	0.1	0.30515	T	0.041	0.50514	D	0.0	0.02946	B	0.0	0.01387	B	0.613099	0.05712	N	1.289250	1	0.08975	N	0	0.06538	N	-1.0	0.76037	T	-0.89	0.24026	N	0.067	0.03956	-0.9642	0.38370	T	0.118	0.41407	T	10	0.021120876	0.00499	T	0.077119	0.72695	D	0.210	0.50028	.	.	0.361558571881	0.35766	0.1455966167102194	0.14482	0.0602571293545	0.06699	0.321780323982	0.13691	T	0.003832	0.03242	T	-0.472833	0.00816	T	-0.508316	0.21488	T	0.034662529671771	0.02750	T	0.649135	0.25986	T	0.09269806	0.21754	0.035770968	0.02892	0.09269806	0.21754	0.035770968	0.02892	-6.015	0.46406	T	.	.	0.086	0.10883	B	.;.	.;.	1.152219	0.15405	11.82	0.938771627681802	0.23892	0.08592	0.14500	N	AEFDBI	0.125031	0.24136	N	-1.11684028332886	0.06343	0.2917387	-1.10710127815511	0.07564	0.3683978	0.951482648084627	0.27960	0.722319	0.85440	0	0.698795	0.70079	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.14	2.17	0.26736	0.183000	0.16729	0.222000	0.16086	0.496000	0.22519	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1314:0.0:0.8686:0.0	7.338	0.25795	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1448.98	41	chr17	81229164	.	G	A	1448.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.15;DP=835;ExcessHet=0.0000;FS=2.871;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.28;ReadPosRankSum=1.53;SOR=1.046	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1106	20	0	1	0
chr17	81239940	81239940	A	G	exonic	NDUFAF8	.	nonsynonymous SNV	NDUFAF8:NM_001353403:exon2:c.A34G:p.T12A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	34.52	74	chr17	81239940	.	A	G	34.52	.	AC=2;AF=0.071;AN=28;DP=74;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3566;MLEAC=2;MLEAF=0.071;MQ=60.00;QD=17.26;SOR=0.693	GT:AD:DP:GQ:PL	./.	13	1	0	7
chr17	81260274	81260274	C	T	exonic	SLC38A10	.	nonsynonymous SNV	SLC38A10:NM_001037984:exon11:c.G1252A:p.E418K	.	.	418	1096	7	1	0	9	0.00408905	.	.	2369126	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.44	T	0.063	B	0.029	B	0.843	U	1.000	N	0.975	L	3.09	T	-0.960	T	0.022	T	0.085	1.263	10.12	2.42	1.005	0.671	7.589	0.015	0.0127128419944	0.0003	.	0.0008	0	0.0015	0.0002	0	0.0010	0.0021	0.0004	0.000414	64	154602	rs151281009	0.0004	0.0004	0.0004	0.0005	0.0125	0.0004	0.0004	0.0102	0.0093	0.0002	0.0008	0.0072	5.07e-05	0	0.0125	0.0002	0.0008	0.0004	0.0003	0.0003	0.0004	0.0003	0.0006	0.0003	0.0002	0.0002	0.0002	4.81e-05	0	0.0005	0.0063	0	0	0.0034	0.0003	0	0.0006	0.398	0.20456	T	0.7	0.07894	T	0.063	0.23376	B	0.029	0.21540	B	0.843040	0.07011	U	1.139520	1	0.08975	N	1.87	0.49600	L	3.09	0.10386	T	-1.0	0.26422	N	0.123	0.11912	-0.9596	0.39255	T	0.022	0.09421	T	10	0.0047091246	0.00099	T	0.012713	0.31519	T	0.015	0.02232	.	.	0.137902524267	0.13322	0.28003887452860715	0.27916	0.157772187606	0.17814	0.348174631596	0.17654	T	0.003469	0.02879	T	-0.595631	0.00155	T	-0.697181	0.05982	T	0.0113142184117753	0.00167	T	0.766923	0.39491	T	0.047503702	0.08131	0.045542188	0.06151	0.047503702	0.08130	0.045542188	0.06151	-4.742	0.33908	T	.	.	0.074	0.05017	B	.;.	.;.	1.380533	0.17916	13.44	0.95989653593853363	0.28383	0.10674	0.16113	N	AEFDBI	0.107371	0.21394	N	-0.879112931454329	0.11340	0.5467561	-0.890230439007517	0.12324	0.6333135	0.394053003174891	0.20072	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.48	2.42	0.28720	0.508000	0.22398	-0.161000	0.11322	0.596000	0.33519	0.001000	0.13787	0.000000	0.08366	0.014000	0.10232	0.0:0.782:0.0:0.218	7.589	0.27178	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	862.98	35	chr17	81260274	.	C	T	862.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.795;DP=748;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.70;ReadPosRankSum=0.632;SOR=0.627	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1107	20	0	1	0
chr17	81438420	81438420	G	A	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001291324:exon4:c.G409A:p.V137M	.	.	319	1195	8	0	0	8	0.00333611	.	.	2818083	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.002	B	0.002	B	.	.	0.841	N	-0.69	N	3.03	T	-0.941	T	0.005	T	0.232	-0.069	3.662	2.83	0.670	5.602	4.646	0.096	.	0.0055	0.00219649	0.0057	0.0014	0.0024	0.0003	0.0124	0.0075	0.0087	0.0035	0.00489	756	154602	rs75661873	0.0059	0.0060	0.0059	0.0059	0.0085	0.0058	0.0057	0.0067	0.0066	0.0011	0.0027	0.0088	0.0001	0.0101	0.0085	0.0070	0.0055	0.0032	0.0051	0.0051	0.0052	0.0050	0.0072	0.0048	0.0047	0.0067	0.0065	0.0012	0	0.0046	0.0104	0.0002	0.0085	0.0204	0.0072	0.0066	0.0029	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.002	0.06944	B	.	.	.	.	0.840868	0.28632	N	-0.755	0.01709	N	3.03	0.08898	T	1.1	0.01229	N	0.313	0.35301	-0.9413	0.42410	T	0.005	0.01688	T	9	0.0061863363	0.00139	T	.	.	.	0.096	0.27654	.	.	0.0138822411134	0.00435	0.20091862164173702	0.20008	0.0873387397924	0.09851	0.366248965263	0.20293	T	0.078304	0.35860	T	-0.583404	0.00184	T	-0.59912	0.12884	T	0.00727181867578652	0.00083	T	0.838616	0.53896	T	0.033860583	0.03689	0.10111662	0.24197	0.033860583	0.03689	0.10111662	0.24196	-4.03	0.24251	T	.	.	0.086	0.20780	B	.;.	.;.	2.616280	0.33994	19.50	0.14097250936999792	0.00299	0.33429	0.24826	N	AEFDB	0.080059	0.16180	N	-0.604303778455982	0.18814	0.9798096	-0.381360150984406	0.25553	1.405957	0.999992633549287	0.74766	0.646311	0.45356	0	0.578056	0.33634	0	0.603688	0.36954	0	0.699875	0.68795	0	.	.	3.87	2.83	0.32150	3.292000	0.51478	7.081000	0.57472	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.7893:0.0:0.2107:0.0	4.646	0.11956	.	.	.;.	.	.	.	.	rs75661873	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2482.98	33	chr17	81438420	.	G	A	2482.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.75;DP=893;ExcessHet=0.0000;FS=1.737;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=1.53;SOR=0.556	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr17	81445621	81445621	G	A	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001291324:exon10:c.G3103A:p.A1035T	.	.	418	1089	14	1	0	16	0.00729262	.	.	2818087	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.73	T	0.005	B	0.003	B	0.503	N	1.000	N	-0.345	N	2.73	T	-0.973	T	0.012	T	0.184	-0.060	3.707	-3.93	-1.100	-0.772	4.382	0.013	.	0.0003	0.000399361	0.0038	0	0.0014	0	0	0.0011	0.0105	0.0084	0.0007568	117	154602	rs368906845	0.0013	0.0013	0.0008	0.0017	0.0077	0.0012	0.0012	0.0071	0.0069	0.0002	0.0005	0.0015	9.043e-05	4.137e-05	0.0068	0.0004	0.0009	0.0077	0.0005	0.0005	0.0004	0.0006	0.0070	0.0004	0.0004	0.0052	0.0045	0	0	0.0003	0.0003	0	0	0.0136	0.0004	0	0.0070	1.0	0.00964	T	0.644	0.09931	T	0.002	0.12996	B	0.001	0.08700	B	0.503324	0.05105	N	1.424980	1	0.08975	N	0.46	0.12951	N	2.73	0.11839	T	-0.01	0.07155	N	0.075	0.04913	-0.9727	0.36627	T	0.012	0.04700	T	10	0.004210353	0.00084	T	.	.	.	0.013	0.01715	.	.	0.0138822411134	0.00435	0.09676238022195217	0.09608	0.0816453080078	0.09195	0.281145811081	0.07652	T	0.083094	0.36976	T	-0.656311	0.00066	T	-0.710113	0.05289	T	0.00888549965512409	0.00110	T	0.433057	0.11799	T	0.016313279	0.00190	0.03705782	0.03278	0.016313279	0.00189	0.03705782	0.03278	-4.257	0.27570	T	.	.	0.070	0.03588	B	.;.	.;.	-0.581170	0.01623	0.112	0.89772947412604487	0.19088	0.06100	0.12076	N	AEFBCI	0.058839	0.11068	N	-1.6186443953941	0.01174	0.05104111	-1.63677612583827	0.01446	0.06539116	0.130293067513638	0.17077	0.646311	0.45356	0	0.547309	0.14657	0	0.600433	0.31921	0	0.699875	0.68795	0	.	.	4.39	-3.93	0.03868	-2.317000	0.01203	-1.550000	0.05191	-0.272000	0.06708	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2954:0.0:0.4448:0.2598	4.382	0.10729	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	665.98	34	chr17	81445621	.	G	A	665.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.642;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=0.380;SOR=0.765	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,104,1544	20	0	1	0
chr17	81447417	81447417	G	A	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001377448:exon11:c.G3545A:p.R1182Q	.	.	348	1150	22	2	0	26	0.011178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.01	B	0.001	B	0.374	N	1.000	N	-0.205	N	1.95	T	-1.012	T	0.012	T	0.138	0.704	7.756	-6.93	-1.877	-1.076	3.603	0.008	.	0.0043	0.00439297	0.0156	0.0012	0.0117	0	0.0084	0.0150	0.0333	0.0272	0.0057955	896	154602	rs199884694	0.0069	0.0069	0.0060	0.0076	0.0180	0.0067	0.0066	0.0171	0.0168	0.0008	0.0045	0.0024	8.678e-05	0.0046	0.0120	0.0065	0.0067	0.0180	0.0041	0.0041	0.0038	0.0044	0.0178	0.0039	0.0037	0.0148	0.0137	0.0006	0	0.0050	0.0014	0	0.0020	0.0068	0.0059	0.0043	0.0178	1.0	0.00964	T	0.632	0.07842	T	0.01	0.15535	B	0.001	0.04355	B	0.373526	0.04376	N	1.526110	1	0.08975	N	.	.	.	1.95	0.22474	T	0.36	0.03700	N	0.037	0.01999	-1.0117	0.26385	T	0.012	0.04795	T	10	0.0034368038	0.00060	T	.	.	.	0.008	0.00669	.	.	0.0138822411134	0.00435	0.0936116226208851	0.09293	0.0955023009259	0.10790	0.276411950588	0.06997	T	0.00449	0.03897	T	-0.683982	0.00045	T	-0.740989	0.03849	T	0.000299698054142912	0.00002	T	0.70393	0.31399	T	0.020640112	0.00630	0.028903734	0.01172	0.020640112	0.00630	0.028903734	0.01172	-3.052	0.10752	T	.	.	0.073	0.04681	B	.;.	.;.	-0.993927	0.00779	0.025	0.75407940630309567	0.11063	0.01970	0.05966	N	AEFDBHCI	0.025534	0.01764	N	-1.72514891284438	0.00756	0.03266466	-1.79681920255817	0.00769	0.03431136	0.567818122664726	0.21467	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.1	-6.93	0.01480	-0.691000	0.05234	-2.028000	0.04322	-0.116000	0.14526	0.000000	0.06391	0.000000	0.08366	0.230000	0.22734	0.2377:0.454:0.2031:0.1051	3.603	0.07576	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	702.98	42	chr17	81447417	.	G	A	702.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.49;DP=928;ExcessHet=0.0000;FS=2.266;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=1.65;SOR=0.568	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	20	0	1	0
chr17	81452032	81452032	G	A	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001377448:exon13:c.G4241A:p.R1414Q	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.0	B	0.001	B	0.215	N	0.996	N	0.055	N	2.0	T	-0.958	T	0.021	T	0.149	1.230	9.987	-2.14	-0.324	0.156	10.969	0.029	0.030318722309	.	.	6.621e-05	0	0.0009	0	0	0	0	0	3.88e-05	6	154602	rs782567531	3.144e-05	4.93e-05	3.615e-05	2.736e-05	0.0001	1.887e-05	1.496e-05	3.895e-05	2.051e-05	0	0.0001	0	3.285e-05	6.009e-05	0	2.774e-05	0	2.074e-05	3.945e-05	3.94e-05	5.14e-05	2.692e-05	0.0003	1.716e-05	1.13e-05	8.874e-05	5.384e-05	0	0	0.0003	0	0	0	0	2.941e-05	0	0	1.0	0.00964	T	0.57	0.08808	T	0.0	0.02946	B	0.001	0.04355	B	0.214916	0.16276	N	0.485095	0.996304	0.23055	N	.	.	.	2.0	0.21473	T	-0.63	0.18459	N	0.241	0.42443	-0.9582	0.39516	T	0.021	0.08824	T	10	0.024152398	0.00655	T	0.030319	0.52653	D	0.029	0.06676	0.283	0.23961	0.0138822411134	0.00435	0.05270453064004215	0.05212	0.0953066022556	0.10761	0.399445712566	0.24991	T	0.414924	0.76834	T	-0.500948	0.00565	T	-0.697674	0.05954	T	0.0338405604907994	0.02611	T	0.549145	0.18877	T	0.026764102	0.01775	0.066944435	0.13781	0.026764102	0.01775	0.066944435	0.13781	-3.357	0.14484	T	.	.	0.051	0.00269	B	.;.	.;.	-0.049826	0.03950	0.883	0.96634498514507572	0.30527	0.04453	0.10057	N	AEFBI	0.058889	0.11081	N	-1.28802005178495	0.03818	0.1712724	-1.21459111424818	0.05675	0.271056	1.53408949899142E-4	0.05650	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.39	-2.14	0.06725	0.306000	0.19030	-0.025000	0.12872	-1.363000	0.01179	0.033000	0.20612	0.065000	0.22112	0.265000	0.23644	0.4155:0.0:0.5845:0.0	10.969	0.46640	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1502.98	29	chr17	81452032	.	G	A	1502.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.164;DP=832;ExcessHet=0.0000;FS=0.646;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=0.415;SOR=0.781	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1292	20	0	1	0
chr17	81456493	81456493	G	C	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001377448:exon16:c.G4766C:p.G1589A	.	.	403	1117	2	0	0	2	0.000894454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.038	B	0.022	B	0.894	N	1.000	N	1.265	L	1.86	T	-0.980	T	0.041	T	0.251	-0.221	2.930	-2.97	-0.229	0.178	5.863	0.023	0.028019301639	.	.	5.974e-05	0	0	0	0	0.0002	0	0	1.94e-05	3	154602	rs782267112	2.469e-05	2.226e-05	2.683e-05	2.287e-05	0.0007	1.432e-05	1.12e-05	0.0002	0.0001	0	0	0	0	0	0.0007	2.513e-05	6.497e-05	1.592e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.257	0.23365	T	0.038	0.21002	B	0.022	0.19653	B	0.893820	0.07312	N	1.065200	1	0.08975	N	.	.	.	1.86	0.24285	T	-0.82	0.22508	N	0.085	0.06190	-0.9802	0.34955	T	0.041	0.17657	T	10	0.045243204	0.03574	T	0.028019	0.50755	D	0.023	0.04649	0.24	0.17218	0.0138822411134	0.00435	0.21954434511336082	0.21870	0.153732000618	0.17347	0.313986480236	0.12510	T	0.247488	0.61714	T	-0.33049	0.06075	T	-0.559197	0.16453	T	0.0660289241773486	0.08083	T	0.586041	0.21661	T	0.034115084	0.03767	0.044221245	0.05680	0.034115084	0.03767	0.044221245	0.05679	-3.522	0.16741	T	.	.	0.076	0.06069	B	.;.	.;.	0.280550	0.06573	3.064	0.58303643223588542	0.05963	0.04513	0.10139	N	AEFDBI	0.068256	0.13457	N	-1.29670629974667	0.03715	0.1664539	-1.37808737336819	0.03487	0.1627339	0.979033526138329	0.29984	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.463824	0.07026	1	.	.	4.14	-2.97	0.05195	-0.079000	0.11321	1.369000	0.25941	-0.122000	0.13826	0.000000	0.06391	0.015000	0.20450	0.002000	0.04165	0.0858:0.4451:0.3457:0.1234	5.863	0.18009	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	796.98	38	chr17	81456493	.	G	C	796.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.090e-01;DP=777;ExcessHet=0.0000;FS=0.845;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.60;ReadPosRankSum=0.014;SOR=0.546	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1303	20	0	1	0
chr17	81460363	81460363	G	A	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001377448:exon24:c.G5992A:p.V1998I	.	.	432	1040	47	3	0	53	0.0248476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.002	B	0.000	N	0.999	N	-2.28	N	1.26	T	-0.954	T	0.010	T	0.167	-0.711	0.937	2.3	0.230	5.510	7.368	0.103	.	0.0090	0.00998403	0.0159	0.0063	0.0067	0.0002	0.0063	0.0143	0.0145	0.0410	0.0097153	1502	154602	rs34680524	0.0099	0.0099	0.0085	0.0112	0.0303	0.0097	0.0096	0.0292	0.0288	0.0041	0.0043	0.0037	0.0001	0.0026	0.0162	0.0093	0.0100	0.0303	0.0081	0.0081	0.0079	0.0083	0.0299	0.0077	0.0076	0.0259	0.0244	0.0054	0	0.0074	0.0052	0	0.0036	0.0136	0.0099	0.0085	0.0299	1.0	0.00964	T	1.0	0.01155	T	0.004	0.12183	B	0.002	0.06944	B	0.000449	0.44317	N	0.091404	0.999131	0.21587	N	.	.	.	1.26	0.36330	T	0.72	0.02099	N	0.139	0.14054	-0.9544	0.40203	T	0.010	0.03856	T	10	0.007214874	0.00164	T	.	.	.	0.103	0.29403	.	.	0.0138822411134	0.00435	0.1990185493906276	0.19818	0.0687072840253	0.07698	0.380222648382	0.22289	T	0.04827	0.27968	T	-0.542436	0.00324	T	-0.528263	0.19461	T	0.00198792404725697	0.00020	T	0.828317	0.49240	T	0.022924742	0.00991	0.050592054	0.07971	0.022924742	0.00991	0.050592054	0.07971	1.392	0.00091	T	.	.	0.063	0.01449	B	.;.	.;.	1.685483	0.21476	15.22	0.81057149420605201	0.13498	0.18993	0.20485	N	AEFGBCI	0.057178	0.10630	N	-0.845303115850774	0.12166	0.5913537	-0.575123179589667	0.20142	1.083889	0.998976047960637	0.38110	0.646311	0.45356	0	0.588066	0.40923	0	0.603688	0.36954	0	0.699875	0.68795	0	.	.	4.6	2.3	0.27735	5.509000	0.66731	7.966000	0.76021	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.8036:0.0:0.1964:0.0	7.368	0.25959	.	.	.;.	PDE6G	Whole_Blood	.	.	rs34680524	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3384.11	36	chr17	81460363	.	G	A	3384.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.99;DP=986;ExcessHet=0.1072;FS=0.454;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=0.191;SOR=0.658	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	19	0	2	0
chr17	81463717	81463717	G	A	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001377448:exon28:c.G7727A:p.R2576H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.97	D	.	.	1.000	N	1.67	L	-2.02	D	-0.350	T	0.613	D	0.728	3.728	18.93	2.07	0.990	0.696	2.758	0.523	0.142812448497	7.9e-05	.	6.183e-05	0.0001	0	0	0	6.397e-05	0	0.0001	5.17e-05	8	154602	rs374906493	7.974e-05	8.27e-05	6.658e-05	9.073e-05	0.0031	6.131e-05	5.532e-05	0.0019	0.0015	5.657e-05	4.575e-05	0	2.774e-05	0	0.0031	5.432e-05	9.081e-05	0.0002	2.626e-05	2.624e-05	1.285e-05	4.027e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.003	0.68238	D	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-2.02	0.85542	D	-3.76	0.71276	D	0.111	0.09772	-0.3497	0.73563	T	0.613	0.86296	D	9	0.17100722	0.31796	T	0.142812	0.82517	D	0.523	0.79765	.	.	0.458917189328	0.45515	0.4619769069116354	0.46115	0.98721341715	0.73952	0.338794648647	0.16257	T	0.654448	0.89554	D	0.00680554	0.52588	T	0.00866776	0.70896	D	0.206043978269939	0.20745	T	0.721628	0.34690	T	0.04689801	0.07928	0.08262264	0.18871	0.04689801	0.07928	0.08262264	0.18870	-3.758	0.20178	T	.	.	0.140	0.30739	B	.;.	.;.	4.089143	0.60890	24.3	0.99907422263665191	0.97801	0.09411	0.15172	N	AEFDGBCI	0.091214	0.18478	N	0.0402107872175925	0.43693	2.657	-0.128617918007604	0.34242	1.967467	0.00589070306825036	0.11069	0.646311	0.45356	0	0.547309	0.14657	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	4.28	2.07	0.26004	0.842000	0.27280	3.689000	0.39491	0.672000	0.70159	0.004000	0.16614	1.000000	0.68203	0.896000	0.43308	0.2602:0.2769:0.4629:0.0	2.758	0.04972	.	.	Bromo adjacent homology (BAH) domain|Bromo adjacent homology (BAH) domain|Bromo adjacent homology (BAH) domain;Bromo adjacent homology (BAH) domain|Bromo adjacent homology (BAH) domain|Bromo adjacent homology (BAH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1635.98	34	chr17	81463717	.	G	A	1635.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.420e-01;DP=812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.86;ReadPosRankSum=-8.700e-01;SOR=0.639	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1229	20	0	1	0
chr17	81528871	81528871	A	G	exonic	FSCN2	.	nonsynonymous SNV	FSCN2:NM_001077182:exon1:c.A340G:p.T114A	Retinitis pigmentosa 30	.	0	1516	6	0	0	6	0.00197498	.	.	741204	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.026	B	0.022	B	0.015	N	0.852	N	1.845	L	1.96	T	-1.059	T	0.040	T	0.036	1.194	9.854	0.445	0.189	0.900	3.101	0.012	0.00514806509797	0.0008	0.000199681	0.0016	0.0008	0.0021	0	0.005	0.0029	0	0.0004	0.0005304	82	154602	rs202158770	0.0009	0.0009	0.0009	0.0009	0.0032	0.0009	0.0009	0.0020	0.0017	0.0002	0.0008	0	0	0.0001	0.0032	0.0011	0.0008	0.0003	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0005	0.0008	0.0008	0.0001	0	0.0006	0	0	9.409e-05	0	0.0010	0.0014	0.0004	0.006	0.61437	D	0.193	0.28210	T	0.0	0.02946	B	0.0	0.01387	B	0.015295	0.28288	N	0.362200	0.851906	0.28484	N	1.1	0.28011	L	1.96	0.22270	T	-2.19	0.49352	N	0.065	0.13055	-1.0587	0.12083	T	0.040	0.17234	T	10	0.012120903	0.00262	T	0.005148	0.13094	T	0.012	0.01476	.	.	0.373897652646	0.36997	0.23596444462120333	0.23511	0.0716247494245	0.08021	0.516877174377	0.41187	T	0.25221	0.62256	T	-0.604322	0.00137	T	-0.686395	0.06600	T	0.0106476187211481	0.00149	T	0.779122	0.41282	T	0.11139031	0.26323	0.09344192	0.22070	0.11139031	0.26323	0.09344192	0.22069	-7.97	0.61071	D	0.12783891521311308	0.13153	0.068	0.02829	B	.;.	.;.	1.866161	0.23708	16.12	0.86445948207584411	0.16541	0.51350	0.28875	D	AEFDBCI	0.101337	0.20356	N	-0.654054616540187	0.17343	0.8915816	-0.682873457787928	0.17389	0.9244013	0.999979095664184	0.50053	0.660377	0.49826	0	0.694456	0.67091	0	0.603688	0.36954	0	0.562822	0.20929	0	.	.	4.32	0.445	0.15808	0.894000	0.27983	3.603000	0.39228	0.686000	0.82685	0.483000	0.26824	1.000000	0.68203	0.304000	0.24594	0.4601:0.0:0.2214:0.3185	3.101	0.05946	.	.	Fascin domain|Fascin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	826.98	34	chr17	81528871	.	A	G	826.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.098;DP=911;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.51;ReadPosRankSum=-2.200e-02;SOR=0.673	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	20	0	1	0
chr17	81536183	81536183	C	T	exonic	FSCN2	.	nonsynonymous SNV	FSCN2:NM_001077182:exon3:c.C1021T:p.R341W	Retinitis pigmentosa 30	.	0	1520	2	0	0	2	0.000657462	.	.	846511	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.992	D	0.000	D	0.999	D	2.455	M	1.45	T	-0.715	T	0.178	T	0.623	3.140	16.50	2.42	2.157	0.424	12.803	0.242	0.236948481749	.	.	5.612e-05	0	0	0	0	5.102e-05	0	0.0002	2.59e-05	4	154602	rs774101992	2.967e-05	3.01e-05	3.154e-05	2.779e-05	0.0002	2.236e-05	1.987e-05	8.155e-05	6.361e-05	6.003e-05	4.629e-05	0	2.543e-05	0	0.0002	1.628e-05	0.0001	0.0001	3.288e-05	3.284e-05	1.285e-05	5.385e-05	7.244e-05	1.261e-05	7.98e-06	1.921e-05	1.032e-05	7.244e-05	0	0	0	0	0	0	1.47e-05	0.0005	0	0.004	0.65419	D	0.004	0.74150	D	1.0	0.90584	D	0.982	0.75477	D	0.000272	0.46590	D	0.150678	0.99893	0.45716	D	2.565	0.75005	M	1.45	0.32958	T	-3.79	0.71639	D	0.607	0.63798	-0.7148	0.59717	T	0.178	0.52396	T	10	0.6162586	0.67722	D	0.236948	0.88522	D	0.242	0.54781	0.599	0.72984	0.69193853668	0.68929	0.5778549564693469	0.57714	0.42870744388	0.43186	0.517102599144	0.41219	T	0.547279	0.84607	D	-0.187919	0.22565	T	-0.292374	0.45526	T	0.779930770397186	0.45045	D	0.957804	0.84101	D	0.2542238	0.48449	0.29539672	0.55571	0.2542238	0.48449	0.29539672	0.55570	-10.412	0.77414	D	0.5014380624579805	0.57659	0.110	0.25850	B	.;.	.;.	4.872576	0.79831	27.2	0.99908320555794961	0.97875	0.64562	0.32447	D	AEFDBCI	0.612807	0.60074	D	0.180611373950839	0.50270	3.218527	0.0136126093584109	0.40346	2.406366	0.999208789649505	0.38742	0.764865	0.99124	0	0.550933	0.16991	0	0.731555	0.93304	0	0.63947	0.58350	0	.	.	4.69	2.42	0.28720	0.283000	0.18605	2.553000	0.33274	0.549000	0.26987	0.014000	0.18986	0.999000	0.35428	0.984000	0.60418	0.2663:0.7337:0.0:0.0	12.803	0.56975	.	.	Fascin domain|Fascin domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	830.98	35	chr17	81536183	.	C	T	830.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.44;DP=796;ExcessHet=0.0000;FS=0.767;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.84;ReadPosRankSum=0.954;SOR=0.582	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1174	20	0	1	0
chr17	81549306	81549306	C	T	exonic	FAAP100	.	nonsynonymous SNV	FAAP100:NM_025161:exon4:c.G1303A:p.D435N,	.	.	431	1085	6	0	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.358	B	0.082	B	0.299	N	0.994	N	1.79	L	1.5	T	-1.024	T	0.055	T	0.054	0.345	5.873	3.01	0.521	0.449	2.146	0.019	0.0132808777221	7.7e-05	.	0.0002	0	0.0002	0	0	0.0003	0	0.0001	0.000194	30	154602	rs374832539	0.0002	0.0002	0.0002	0.0002	0.0023	0.0002	0.0002	0.0013	0.0011	5.974e-05	0.0006	0	0	0	0.0023	0.0002	0.0005	0.0002	0.0003	0.0003	0.0003	0.0003	0.0012	0.0003	0.0002	0.0008	0.0007	4.811e-05	0	0.0012	0.0003	0	0	0.0034	0.0004	0	0.0004	0.096	0.32296	T	0.332	0.18449	T	0.358	0.33818	B	0.082	0.29098	B	0.298921	0.14633	N	0.655088	0.999998	0.08975	N	2.125	0.59049	M	1.5	0.31205	T	-2.03	0.50666	N	0.28	0.31702	-1.0239	0.22443	T	0.055	0.23186	T	10	0.039919913	0.02519	T	0.013281	0.32560	T	0.019	0.03383	.	.	0.208000267992	0.20380	0.18726845554791324	0.18644	0.520122503921	0.49816	.	.	.	0.068797	0.33547	T	-0.551201	0.00287	T	-0.675505	0.07260	T	0.0277747029854278	0.01655	T	0.727427	0.36851	T	0.032666136	0.03337	0.035640195	0.02855	0.032666136	0.03336	0.035640195	0.02855	-4.243	0.27370	T	.	.	0.113	0.22464	B	.;.	.;.	1.496955	0.19246	14.17	0.97764904710363121	0.35832	0.17849	0.20013	N	AEFDGBHCI	0.080543	0.16287	N	-0.776736215577914	0.13918	0.6892213	-0.832049491068986	0.13720	0.71326	0.999957058790804	0.48110	0.706548	0.73137	0	0.697927	0.68747	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.02	3.01	0.33872	0.693000	0.25176	0.985000	0.23152	-0.222000	0.07959	0.051000	0.21449	0.629000	0.25856	0.133000	0.19684	0.1616:0.5112:0.1565:0.1706	2.146	0.03557	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	688.98	33	chr17	81549306	.	C	T	688.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.843e+00;DP=781;ExcessHet=0.0000;FS=2.095;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.94;ReadPosRankSum=-1.310e-01;SOR=0.912	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1021	20	0	1	0
chr17	81550260	81550260	T	C	exonic	FAAP100	.	nonsynonymous SNV	FAAP100:NM_025161:exon3:c.A1234G:p.R412G,	.	.	424	1077	21	0	0	21	0.00965517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.002	B	0.001	B	0.304	N	1.000	N	1.355	L	1.48	T	-1.001	T	0.046	T	0.363	-0.116	3.431	-0.45	-0.101	-0.420	5.287	0.047	.	0.0016	0.00479233	0.0056	0.0001	0.0015	0	0.0027	0.0045	0.0197	0.0220	0.0046701	722	154602	rs151231414	0.0029	0.0029	0.0024	0.0034	0.0176	0.0029	0.0028	0.0169	0.0166	0.0002	0.0014	0.0199	2.532e-05	0.0032	0.0072	0.0015	0.0046	0.0176	0.0023	0.0023	0.0021	0.0025	0.0201	0.0021	0.0020	0.0168	0.0156	0.0003	0	0.0020	0.0207	0.0002	0.0010	0.0034	0.0016	0.0047	0.0201	0.574	0.06106	T	0.024	0.56640	D	0.002	0.09854	B	0.001	0.04355	B	0.303900	0.14550	N	0.672311	1	0.08975	N	1.01	0.25309	L	1.48	0.31731	T	-2.57	0.63669	D	0.144	0.14480	-1.0009	0.29660	T	0.046	0.19720	T	10	0.0029958785	0.00049	T	.	.	.	0.047	0.12962	.	.	0.137902524267	0.13322	0.27120408113970623	0.27033	0.443225284467	0.44258	.	.	.	0.203323	0.56177	T	-0.55384	0.00277	T	-0.554049	0.16939	T	0.00465743658585482	0.00050	T	0.490951	0.15096	T	0.10023282	0.23664	0.07447114	0.16294	0.10023282	0.23664	0.07447114	0.16294	0.761	0.00166	T	.	.	0.068	0.02861	B	.;.	.;.	0.044817	0.04601	1.272	0.3642484507264947	0.02342	0.04076	0.09532	N	AEFDBI	0.057229	0.10643	N	-1.0674150619097	0.07250	0.3362283	-1.12509718697347	0.07223	0.3505382	0.999918550953572	0.45857	0.67177	0.52595	0	0.685571	0.66316	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.58	-0.45	0.11612	-0.689000	0.05245	-0.502000	0.08796	0.661000	0.55757	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.4305:0.1706:0.3989	5.287	0.15016	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1467.98	36	chr17	81550260	.	T	C	1467.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.250e+00;DP=862;ExcessHet=0.0000;FS=4.263;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.56;ReadPosRankSum=0.904;SOR=1.086	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1276	20	0	1	0
chr17	81550334	81550334	G	A	exonic	FAAP100	.	nonsynonymous SNV	FAAP100:NM_025161:exon3:c.C1160T:p.P387L,	.	.	422	1098	2	0	0	2	0.000909918	.	.	2370482	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.3	T	0.883	P	0.158	B	0.093	N	1.000	N	1.59	L	1.51	T	-1.042	T	0.044	T	0.153	2.327	13.74	1.17	0.456	-0.051	5.716	0.055	0.00669370942764	.	.	6.01e-05	0.0001	0	0	0	9.5e-05	0	0	5.17e-05	8	154602	rs774616486	4.998e-05	4.994e-05	5.586e-05	4.404e-05	0.0010	4.062e-05	3.737e-05	0.0005	0.0003	2.987e-05	0.0002	0	2.519e-05	0	0.0010	4.407e-05	6.625e-05	4.638e-05	7.227e-05	7.223e-05	5.138e-05	9.415e-05	0.0007	3.971e-05	3.127e-05	0.0004	0.0003	2.413e-05	0	0.0007	0	0	0	0	0	0	0	0.357	0.12032	T	0.271	0.22291	T	0.883	0.48537	P	0.158	0.34617	B	0.093198	0.20236	N	0.496107	1	0.08975	N	1.995	0.54099	M	1.51	0.30937	T	-3.09	0.70553	D	0.117	0.10626	-1.0420	0.16711	T	0.044	0.18824	T	10	0.08248615	0.13620	T	0.006694	0.17671	T	0.055	0.15663	.	.	0.276898752692	0.27294	0.2431528970689813	0.24229	0.355051239597	0.37268	0.342267036438	0.16777	T	0.199113	0.55629	T	-0.41806	0.01760	T	-0.589981	0.13668	T	0.0769916698336601	0.09598	T	0.540746	0.18332	T	0.040081196	0.05654	0.046977483	0.06665	0.040081196	0.05653	0.046977483	0.06665	-4.795	0.34533	T	.	.	0.072	0.04159	B	.;.;.	.;.;.	1.022892	0.14027	10.59	0.93547833051062501	0.23378	0.11912	0.16941	N	AEFDBI	0.095229	0.19243	N	-0.48386864932096	0.22609	1.208439	-0.605206792767176	0.19358	1.038302	0.999925710543968	0.46280	0.67177	0.52595	0	0.672317	0.65289	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.24	1.17	0.19998	0.000000	0.12910	-0.118000	0.11753	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.282000	0.24066	0.1711:0.0:0.645:0.1839	5.716	0.17230	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1487.98	36	chr17	81550334	.	G	A	1487.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.000e-01;DP=864;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=1.35;SOR=0.732	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1276	20	0	1	0
chr17	81551974	81551974	G	A	exonic	FAAP100	.	nonsynonymous SNV	FAAP100:NM_025161:exon2:c.C244T:p.R82W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.802	P	.	.	0.878	N	1.04	L	3.36	T	-1.029	T	0.028	T	0.384	3.841	19.51	-0.42	0.004	-0.057	13.639	0.067	0.063285863605	.	.	3.191e-05	0	0	0	0	6.223e-05	0	0	6.5e-06	1	154602	rs760075135	1.132e-05	1.642e-05	1.405e-05	8.556e-06	0.0002	6.7e-06	5.43e-06	6.61e-06	5.1e-06	0	0	0	2.764e-05	0	0.0002	1.185e-05	1.7e-05	0	1.973e-05	1.971e-05	1.285e-05	2.693e-05	2.941e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	2.415e-05	0	0	0	0	0	0	2.941e-05	0	0	0.009	0.57480	D	0.05	0.48080	T	0.998	0.73220	D	0.802	0.58266	P	.	.	.	.	0.999999	0.28096	N	1.525	0.38595	L	3.36	0.05918	T	-3.27	0.65512	D	0.278	0.31478	-1.0292	0.20713	T	0.028	0.11971	T	9	0.2083295	0.37159	T	0.063286	0.68919	D	0.067	0.19503	0.442	0.49811	0.314716216878	0.31082	0.43544822086910484	0.43461	0.376993164166	0.39134	.	.	.	0.21637	0.57851	T	-0.187777	0.22586	T	-0.507505	0.21572	T	0.762088596820831	0.43971	D	0.762924	0.38892	T	0.088309176	0.20596	0.21493237	0.46063	0.088309176	0.20596	0.21493237	0.46062	-10.136	0.74722	D	.	.	0.162	0.35767	B	.	.	2.827399	0.37262	20.5	0.99830188674684139	0.91198	0.11389	0.16601	N	AEFDBHCI	0.176015	0.30321	N	-0.403791389213669	0.25336	1.374599	-0.555795304274889	0.20652	1.113643	0.999998782132037	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.581474	0.35302	0	.	.	4.64	-0.42	0.11721	-0.171000	0.09872	1.772000	0.28642	-0.198000	0.09030	0.000000	0.06391	0.006000	0.19429	0.696000	0.34018	0.0:0.6525:0.3475:0.0	13.639	0.61709	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	346.98	34	chr17	81551974	.	G	A	346.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.850e-01;DP=747;ExcessHet=0.0000;FS=4.748;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.64;ReadPosRankSum=-1.433e+00;SOR=1.152	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,114,1710	20	0	1	0
chr17	81645407	81645407	G	C	exonic	TSPAN10	.	nonsynonymous SNV	TSPAN10:NM_001290212:exon3:c.G452C:p.R151P	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.968	D	0.65	P	0.267	N	1.000	N	2.175	M	-1.26	T	-0.516	T	0.431	T	0.726	1.198	9.867	-0.201	-0.152	0.085	10.52	0.543	.	.	0.00259585	0.0024	0	0.0002	0	0	0	0	0.0165	0.0018046	279	154602	rs533267022	0.0011	0.0011	0.0005	0.0016	0.0171	0.0010	0.0010	0.0163	0.0160	0	0	0	0	0	0	2.435e-05	0.0007	0.0171	0.0006	0.0006	0.0002	0.0009	0.0165	0.0005	0.0004	0.0136	0.0126	0	0	0	0	0	0	0	7.351e-05	0	0.0165	.	.	.	0.042	0.50226	D	.	.	.	.	.	.	0.267257	0.15198	N	0.625852	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.13	0.20395	-0.5157	0.68076	T	0.431	0.77277	T	10	0.009663761	0.00217	T	.	.	.	.	.	0.681	0.81885	0.139678290688	0.13603	0.7892947586093271	0.78881	.	.	0.268006026745	0.05882	T	.	.	.	-0.106684	0.35317	T	0.0869537	0.76042	D	0.0881646162948201	0.10997	T	0.70483	0.31518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.53838	B	.;.	.;.	1.395059	0.18080	13.54	0.93027153048846933	0.22626	0.31364	0.24318	N	AEFDBI	0.448459	0.50368	N	-0.681426430225603	0.16552	0.8442731	-0.869427039627252	0.12822	0.6617679	0.00478086744589921	0.10707	0.078448	0.01964	0	0.097471	0.02872	0	0.072005	0.02045	0	0.075334	0.01956	0	.	.	4.15	-0.201	0.12563	0.053000	0.14067	-0.032000	0.12782	-2.459000	0.00277	0.003000	0.16062	0.002000	0.18203	0.001000	0.02609	0.3174:0.0:0.6826:0.0	10.52	0.44101	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1434.98	78	chr17	81645407	.	G	C	1434.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=1748;ExcessHet=0.0000;FS=4.527;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.16;ReadPosRankSum=-6.600e-02;SOR=0.345	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr17	81653166	81653166	A	C	exonic	PDE6G	.	nonsynonymous SNV	PDE6G:NM_001365724:exon2:c.T140G:p.V47G	Retinitis pigmentosa 57, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	1083797	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.582	P	0.493	P	0.016	N	1.000	D	.	.	0.7	T	-0.717	T	0.198	T	0.485	3.917	19.93	5.41	2.058	7.164	15.068	0.298	0.350908352029	.	0.00139776	0.0005	9.638e-05	0	0	0	0	0.0022	0.0033	0.000414	64	154602	rs535048114	0.0002	0.0002	0.0001	0.0003	0.0034	0.0002	0.0002	0.0031	0.0030	8.961e-05	0	0	0	0	0	8.993e-07	0.0004	0.0034	0.0002	0.0002	0.0001	0.0002	0.0054	0.0001	0.0001	0.0038	0.0033	0	0	0	0	0	0	0	0	0	0.0054	0.001	0.78490	D	0.004	0.79402	D	0.582	0.38854	P	0.493	0.47443	P	0.016169	0.28049	N	0.388460	1	0.81001	D	.	.	.	0.7	0.51474	T	-5.3	0.84387	D	0.348	0.44570	-0.7169	0.59615	T	0.198	0.55301	T	9	0.013780117	0.00291	T	0.350908	0.92265	D	0.298	0.61843	0.554	0.67133	0.813207589168	0.81144	.	.	0.166535353928	0.18790	0.559820532799	0.47243	T	0.392733	0.75232	T	-0.312719	0.07511	T	-0.225026	0.52253	T	0.201336476870421	0.20489	T	0.825517	0.48813	T	0.8394171	0.86567	0.8479324	0.91365	0.8394171	0.86568	0.8479324	0.91366	-3.094	0.11227	T	.	.	0.842	0.79364	P	.;.;.;.	.;.;.;.	4.728957	0.76146	26.5	0.99175090666760735	0.54498	0.99586	0.97719	D	AEFDBI	0.882892	0.81137	D	0.395100283886715	0.61156	4.312991	0.466567749163946	0.65788	4.868235	0.999999999998708	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.459711	0.06710	0	0.444512	0.06955	0	.	.	5.41	5.41	0.78313	7.268000	0.77870	11.024000	0.84988	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.880000	0.42090	1.0:0.0:0.0:0.0	15.068	0.71679	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1225.98	34	chr17	81653166	.	A	C	1225.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.451e+00;DP=829;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.05;ReadPosRankSum=1.73;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1178	20	0	1	0
chr17	81809839	81809839	G	A	exonic	GCGR	.	nonsynonymous SNV	GCGR:NM_000160:exon3:c.G118A:p.G40S,	.	.	416	1075	30	1	0	32	0.0146654	.	.	31198	Type_2_diabetes_mellitus|not_provided	Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.33	T	0.001	B	0.002	B	.	.	0.000	A	-0.665	N	0.63	T	-1.018	T	0.032	T	0.096	0.932	8.796	-1.26	-0.044	0.264	8.493	0.028	.	0.0081	0.00419329	0.0084	0.0012	0.012	0	0	0.0085	0.0190	0.0097	0.002141	331	154602	rs1801483	0.0083	0.0078	0.0084	0.0081	0.0372	0.0081	0.0081	0.0331	0.0315	0.0022	0.0068	0.0119	8.395e-05	0.0014	0.0372	0.0087	0.0095	0.0077	0.0064	0.0064	0.0067	0.0061	0.0086	0.0061	0.0060	0.0074	0.0072	0.0019	0.1250	0.0086	0.0147	0.0002	0.0008	0.0374	0.0080	0.0095	0.0048	0.383	0.11085	T	0.424	0.13953	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	3.00252e-10	0.08975	A	-0.615	0.02190	N	0.63	0.53088	T	1.42	0.00815	N	0.1	0.14480	-1.0176	0.24495	T	0.032	0.13767	T	8	0.02872321	0.01002	T	.	.	.	0.028	0.06331	.	.	0.430010490656	0.42616	0.6741460368078268	0.67352	0.00264210785075	0.00224	0.371503293514	0.21047	T	0.03405	0.23165	T	-0.607969	0.00130	T	-0.638691	0.09766	T	0.000417347594004391	0.00003	T	0.283672	0.12956	T	0.10111001	0.23881	0.119531035	0.28850	0.10111001	0.23881	0.12714596	0.30611	-5.49	0.41775	T	.	.	0.065	0.07083	B	.;.;.	.;.;.	0.208167	0.05921	2.361	0.87792247977111282	0.17485	0.02006	0.06040	N	AEFGBCI	0.137159	0.25806	N	-1.32208881725407	0.03423	0.1528966	-1.25854109391487	0.05005	0.2375129	0.0218672784979503	0.13384	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.562822	0.20929	0	.	.	4.07	-1.26	0.08892	0.712000	0.25450	0.467000	0.18675	-1.481000	0.01058	0.012000	0.18695	0.011000	0.20116	0.582000	0.30943	0.6058:0.0:0.3942:0.0	8.493	0.32271	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	963.98	33	chr17	81809839	.	G	A	963.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.93;DP=739;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.39;ReadPosRankSum=0.436;SOR=0.769	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1300	20	0	1	0
chr17	81900124	81900124	G	A	exonic	ANAPC11	.	nonsynonymous SNV	ANAPC11:NM_001289420:exon5:c.G400A:p.D134N,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0001	0	0	0.0002	0	0.0002	0.0017	0	9.7e-05	15	154602	rs375171192	7.377e-05	7.73e-05	9.18e-05	5.55e-05	0.0003	6.229e-05	5.786e-05	6.437e-05	5.935e-05	0	9.23e-05	0	0.0001	0	0.0003	7.767e-05	0.0001	3.548e-05	5.25e-05	5.249e-05	3.853e-05	6.711e-05	0.0001	2.554e-05	1.828e-05	4.764e-05	3.338e-05	0	0	0	0	0	0	0	0.0001	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1083.98	35	chr17	81900124	.	G	A	1083.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=764;ExcessHet=0.0000;FS=2.035;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.06;ReadPosRankSum=-1.049e+00;SOR=0.473	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1191	20	0	1	0
chr17	81914520	81914520	G	C	exonic	SIRT7	.	nonsynonymous SNV	SIRT7:NM_016538:exon7:c.C590G:p.S197C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.596	P	0.563	P	0.000	N	1.000	D	2.615	M	0.85	T	-0.772	T	0.207	T	0.347	1.393	10.59	2.78	0.786	5.222	7.879	0.157	0.0909141661862	.	.	4.153e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs761467889	1.917e-05	1.915e-05	5.448e-06	3.302e-05	0.0003	1.329e-05	1.144e-05	0.0002	0.0002	0	0	0	0	0	0	0	0	0.0003	6.566e-06	6.561e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.026	0.46910	D	0.048	0.52727	D	0.441	0.35913	B	0.4	0.44481	B	0.000249	0.46924	N	0.193921	0.995579	0.47497	D	2.775	0.80997	M	0.85	0.47130	T	-3.6	0.69357	D	0.462	0.49874	-0.7725	0.56720	T	0.207	0.56553	T	10	0.4874068	0.60790	T	0.090914	0.75609	D	0.157	0.40909	0.637	0.77361	0.350697349064	0.34675	0.4706703819448738	0.46986	0.75484548337	0.63964	0.526067793369	0.42481	T	0.52419	0.83415	D	-0.292114	0.09425	T	-0.346859	0.39564	T	0.583649158477783	0.35759	D	0.936906	0.77964	D	0.15380271	0.34845	0.13998829	0.33383	0.15380271	0.34844	0.13998829	0.33382	-10.493	0.76807	D	.	.	0.104	0.24020	B	.;.	.;.	3.249947	0.44396	21.9	0.98423735475828922	0.41320	0.99084	0.90989	D	AEFDBI	0.735499	0.68129	D	0.0861049141934233	0.45815	2.831799	0.0122208079528272	0.40280	2.40147	0.994750054672904	0.33785	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.75	2.78	0.31702	5.330000	0.65675	7.278000	0.58013	0.592000	0.32167	1.000000	0.71638	1.000000	0.68203	0.466000	0.28252	0.1905:0.0:0.8095:0.0	7.879	0.28773	.	.	Sirtuin family, catalytic core domain;Sirtuin family, catalytic core domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2155.98	37	chr17	81914520	.	G	C	2155.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.42;DP=956;ExcessHet=0.0000;FS=1.256;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.91;ReadPosRankSum=1.09;SOR=0.821	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr17	81941276	81941280	CCTGG	-	exonic	MYADML2	.	frameshift deletion	MYADML2:NM_001145113:exon3:c.462_466del:p.Q155Efs*29,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1274229325	4.293e-06	4.104e-06	1.412e-06	7.253e-06	0.0002	1.54e-06	1.01e-06	7.4e-07	2.1e-07	0	0	0	0	0	0.0002	2.781e-06	3.45e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1722.94	35	chr17	81941275	.	ACCTGG	A	1722.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.77;DP=1227;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.93;ReadPosRankSum=0.448;SOR=0.708	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1800	20	0	1	0
chr17	81941384	81941384	C	T	exonic	MYADML2	.	nonsynonymous SNV	MYADML2:NM_001145113:exon3:c.G358A:p.A120T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.026	B	0.027	B	0.561	N	1.000	N	0.895	L	1.78	T	-1.008	T	0.040	T	0.067	-0.137	3.329	2.89	0.618	0.778	3.655	0.014	.	.	0.00279553	0.0010	0.0165	0	0	0	0	0	0.0005	0.0002199	34	154602	rs374053976	0.0002	0.0002	0.0003	0.0002	0.0076	0.0002	0.0002	0.0068	0.0065	0.0076	0.0003	0	0	0	0.0004	1.948e-05	0.0006	0.0003	0.0021	0.0021	0.0022	0.0019	0.0072	0.0019	0.0018	0.0065	0.0062	0.0072	0	0.0005	0	0	0	0.0034	1.47e-05	0.0014	0.0004	0.388	0.10909	T	0.437	0.13441	T	0.026	0.19406	B	0.027	0.21085	B	0.560822	0.11338	N	0.726117	1	0.08975	N	0.805	0.20218	L	1.78	0.25678	T	-0.41	0.14000	N	0.025	0.00485	-1.0080	0.27541	T	0.040	0.17106	T	10	0.0029496849	0.00048	T	.	.	.	0.014	0.01968	.	.	0.0138822411134	0.00435	0.09415349905598182	0.09347	.	.	0.401527345181	0.25282	T	6.54E-4	0.00285	T	-0.653598	0.00069	T	-0.70748	0.05426	T	0.0017985427436338	0.00018	T	0.466753	0.13720	T	0.03222771	0.03207	0.045332033	0.06077	0.03222771	0.03207	0.045332033	0.06077	-5.067	0.37558	T	.	.	0.074	0.05017	B	.	.	0.743056	0.11128	7.769	0.94541788050414854	0.25049	0.09531	0.15266	N	AEFGBI	0.110571	0.21922	N	-0.974042256966789	0.09161	0.4324165	-0.964750511258788	0.10582	0.5339282	0.18886420207921	0.17973	0.608966	0.35542	0	0.547309	0.14657	0	0.769059	0.98459	0	0.542086	0.14980	0	.	.	4.95	2.89	0.32713	1.285000	0.32866	0.682000	0.20689	-0.175000	0.10903	0.001000	0.13787	0.001000	0.17328	0.012000	0.09680	0.2066:0.5629:0.0:0.2304	3.655	0.07757	.	.	Marvel domain|Marvel domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1291.98	35	chr17	81941384	.	C	T	1291.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=1188;ExcessHet=0.0000;FS=1.800;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.57;ReadPosRankSum=0.119;SOR=0.479	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1800	20	0	1	0
chr17	81960711	81960711	T	C	exonic	NOTUM	.	nonsynonymous SNV	NOTUM:NM_178493:exon1:c.A199G:p.M67V,	.	.	405	1116	1	0	0	1	0.000447828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.005	B	0.001	B	0.000	U	0.992	D	0.695	N	.	.	-1.058	T	0.105	T	0.472	1.528	11.06	1.91	0.238	2.219	8.675	0.160	0.933091247677	.	.	1.589e-05	0	0	0	0	3e-05	0	0	6.5e-06	1	154602	rs748163216	3.443e-06	4.788e-06	2.738e-06	4.158e-06	1.805e-06	1.01e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.805e-06	5.002e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.368	0.11623	T	0.411	0.14500	T	0.005	0.12996	B	0.001	0.04355	B	0.000000	0.84330	U	0.000000	0.99172	0.41458	D	0.895	0.22405	L	.	.	.	-0.97	0.26639	N	0.407	0.44761	-1.0580	0.12260	T	0.105	0.38562	T	9	0.1644224	0.30762	T	0.933091	0.99518	D	0.160	0.41473	0.294	0.25720	0.0551355673512	0.04727	0.8203094142124181	0.81987	0.490749425408	0.47787	0.923894524574	0.98605	D	0.113597	0.52335	T	-0.0464293	0.44986	T	-0.304469	0.44251	T	0.16902007162571	0.18514	T	0.80032	0.44603	T	0.26155105	0.49214	0.16360207	0.37943	0.26155105	0.49214	0.16360207	0.37942	-4.912	0.35870	T	.	.	0.188	0.47762	B	.;.	.;.	2.719356	0.35566	19.93	0.94112352723908976	0.24282	0.64360	0.32381	D	AEFDGBHCI	0.278775	0.39297	N	-0.574415574771171	0.19725	1.034549	-0.480450683459456	0.22693	1.233829	0.99999963840632	0.74766	0.764865	0.99124	0	0.563428	0.19063	0	0.731555	0.93304	0	0.63947	0.58350	0	.	.	3.06	1.91	0.24841	4.138000	0.57780	3.823000	0.39960	0.564000	0.28548	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:0.1937:0.8063	8.675	0.33338	.	.	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	685.98	34	chr17	81960711	.	T	C	685.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.790e-01;DP=801;ExcessHet=0.0000;FS=0.864;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.91;ReadPosRankSum=-1.130e-01;SOR=0.674	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1061	20	0	1	0
chr17	81960899	81960899	C	T	exonic	NOTUM	.	nonsynonymous SNV	NOTUM:NM_178493:exon1:c.G11A:p.G4E,	.	.	384	1136	2	0	0	2	0.000879507	.	.	2338529	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	.	.	1.000	N	0	N	.	.	-0.989	T	0.031	T	0.288	-1.386	0.024	-1.5	-0.081	-0.359	4.618	0.023	0.340659852795	.	0.000599042	0	0	.	.	0	0	0	0	0.0002329	36	154602	rs557946260	0.0024	0.0022	0.0022	0.0026	0.0134	0.0023	0.0023	0.0125	0.0121	0.0005	0.0080	0	0	0.0001	0.0050	0.0020	0.0026	0.0134	0.0022	0.0022	0.0019	0.0025	0.0102	0.0020	0.0019	0.0079	0.0071	0.0005	0	0.0083	0	0.0002	0	0	0.0019	0.0048	0.0102	0.848	0.04353	T	0.517	0.10572	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999516	0.21065	N	0.205	0.09354	N	.	.	.	0.17	0.05706	N	0.082	0.05799	-0.9887	0.32928	T	0.031	0.13155	T	8	0.004248917	0.00085	T	0.34066	0.92006	D	0.023	0.04649	.	.	0.124217242631	0.12060	0.4037858171179632	0.40294	0.622210514355	0.56502	0.857111215591	0.90683	D	0.062704	0.43730	T	-0.554945	0.00272	T	-0.543456	0.17958	T	0.0129908659258785	0.00225	T	0.360864	0.08943	T	0.06902729	0.15089	0.11617172	0.28045	0.06902729	0.15088	0.11617172	0.28044	-5.606	0.42847	T	.	.	0.085	0.10208	B	.;.	.;.	1.909594	0.24252	16.33	0.94186380174945938	0.24411	0.05390	0.11255	N	AEFDBHCI	0.042168	0.06508	N	-1.25354318706523	0.04253	0.1915945	-1.21865782318844	0.05610	0.267802	0.999999670763626	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	2.7	-1.5	0.08233	-0.335000	0.07917	1.076000	0.23848	0.462000	0.21616	0.000000	0.06391	0.999000	0.35428	0.958000	0.51230	0.0:0.4033:0.1851:0.4117	4.618	0.11824	.	.	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1336.98	20	chr17	81960899	.	C	T	1336.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.220e-01;DP=510;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.21;ReadPosRankSum=-2.390e-01;SOR=0.723	GT:AD:DP:GQ:PL	0/0:16,0:16:48:0,48,566	20	0	1	0
chr17	81996013	81996013	C	G	exonic	ASPSCR1	.	nonsynonymous SNV	ASPSCR1:NM_001330528:exon5:c.C223G:p.R75G	Alveolar soft-part sarcoma	.	9	1509	4	0	0	4	0.00132363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.761	P	0.437	B	0.002	N	1.000	N	1.525	L	1.5	T	-1.045	T	0.078	T	0.339	0.006	4.046	3.48	1.223	1.169	10.008	0.083	0.0281606343701	.	.	0.0001	0	0.0001	0	0	0	0	0.0009	7.76e-05	12	154602	rs368561373	6.31e-05	6.293e-05	3.957e-05	8.69e-05	0.0012	5.242e-05	4.859e-05	0.0006	0.0006	2.99e-05	0.0001	0	0	0	0.0012	7.2e-06	9.961e-05	0.0008	2.629e-05	2.627e-05	0	5.384e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.069	0.38407	T	0.025	0.57104	D	0.761	0.43566	P	0.251	0.45591	B	0.001620	0.38497	N	0.284144	0.995205	0.23347	N	2.14	0.59869	M	1.5	0.31205	T	-2.87	0.61435	D	0.288	0.36464	-1.0447	0.15913	T	0.078	0.31012	T	10	0.050058126	0.04682	T	0.028161	0.50875	D	0.083	0.24192	0.476	0.55342	0.228597637076	0.22478	0.27902383912038564	0.27815	0.13878671293	0.15652	0.212815880775	0.00936	T	0.560292	0.85269	D	-0.422586	0.01647	T	-0.466522	0.25891	T	0.119641453027725	0.14395	T	0.854814	0.54490	D	0.10590469	0.25042	0.084382825	0.19406	0.10590469	0.25042	0.084382825	0.19406	-6.011	0.48477	T	.	.	0.189	0.40937	B	.;.;.;.	.;.;.;.	2.662221	0.34688	19.70	0.6499564150760091	0.07648	0.57776	0.30466	D	AEFDBHCI	0.186711	0.31401	N	-0.299762788570945	0.29159	1.614484	-0.31870443181742	0.27495	1.526062	0.999999999994148	0.74766	0.77792	0.99625	0	0.643519	0.57511	0	0.854111	0.99894	0	0.699875	0.68795	0	.	.	4.46	3.48	0.38946	1.126000	0.30958	3.237000	0.36943	-0.180000	0.10397	0.730000	0.28923	0.998000	0.33993	0.008000	0.08271	0.2017:0.7983:0.0:0.0	10.008	0.41142	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	986.98	34	chr17	81996013	.	C	G	986.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.730e-01;DP=767;ExcessHet=0.0000;FS=1.965;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.71;ReadPosRankSum=0.712;SOR=0.965	GT:AD:DP:GQ:PL	0/1:31,41:72:99:1001,0,777	20	0	1	0
chr17	82036588	82036588	G	C	exonic	DCXR	.	nonsynonymous SNV	DCXR:NM_001195218:exon5:c.C398G:p.S133C	.	.	0	1521	0	1	0	2	0.00065703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.000	D	1.000	D	2.69	M	1.39	T	-0.530	T	0.265	T	0.878	2.053	12.82	5.12	2.355	9.295	18.529	0.517	0.20138642787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.84e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.395	0.69210	M	-3.4	0.94260	D	-4.8	0.80682	D	0.857	0.85343	-0.5300	0.67541	T	0.265	0.63588	T	9	0.97083175	0.96679	D	0.201386	0.86761	D	0.517	0.79400	0.882	0.96934	0.994903219395	0.99485	0.8949845286559115	0.89469	1.11247431182	0.78093	0.645192742348	0.59303	T	0.144388	0.91244	T	0.473773	0.93480	D	0.442766	0.93398	D	0.998606503009796	0.94620	D	0.942906	0.79824	D	0.8713302	0.88967	0.78071874	0.87074	0.8713302	0.88969	0.78071874	0.87074	-10.252	0.75407	D	.	.	0.824	0.78501	P	.;.;.;.	.;.;.;.	4.976572	0.82395	27.8	0.7854438029586901	0.12346	0.97907	0.78031	D	AEFBCI	0.976061	0.99653	D	0.756266032465745	0.83312	7.984775	0.674759268673412	0.80468	7.305227	1.0	0.98316	0.766844	0.99359	0	0.685571	0.66316	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	5.12	5.12	0.69459	9.233000	0.94439	11.479000	0.92885	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.432000	0.27494	0.0:0.0:1.0:0.0	18.529	0.90934	.	.	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2172.98	34	chr17	82036588	.	G	C	2172.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.28;DP=1241;ExcessHet=0.0000;FS=1.135;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.56;ReadPosRankSum=0.969;SOR=0.797	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1181	20	0	1	0
chr17	82052365	82052365	C	T	exonic	GPS1	.	nonsynonymous SNV	GPS1:NM_212492:exon1:c.C59T:p.T20I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.006	B	0.013	B	.	.	1.000	N	0.895	L	.	.	-0.999	T	0.096	T	0.074	1.438	10.75	0.939	-0.114	1.268	11.799	0.050	0.0541541720372	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1234429765	2.739e-06	2.736e-06	4.088e-06	1.377e-06	8.996e-07	6.4e-07	4.3e-07	.	.	0	0	0	0	5.721e-05	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.026	0.60972	D	0.006	0.13644	B	0.013	0.16460	B	.	.	.	.	0.999998	0.58761	D	.	.	.	.	.	.	-0.32	0.12283	N	0.099	0.14054	-0.9994	0.30087	T	0.096	0.36081	T	8	0.050456047	0.04780	T	0.054154	0.65748	D	0.050	0.13987	0.157	0.06070	0.128874641272	0.12493	0.16175844046670257	0.16096	0.627997658997	0.56873	.	.	.	0.011597	0.10390	T	-0.243168	0.14947	T	-0.58707	0.13920	T	0.146373629875	0.16811	T	0.675932	0.28448	T	.	.	.	.	.	.	.	.	-6.743	0.52133	T	.	.	0.106	0.22609	B	.;.;.;.;.;.	.;.;.;.;.;.	2.000967	0.25425	16.76	0.97619744113331697	0.34954	0.16792	0.19551	N	AEFDGBCI	0.102657	0.20587	N	-0.852685534989736	0.11984	0.5814554	-0.86940050707363	0.12822	0.6618052	0.99999362818643	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.554799	0.18163	0	.	.	3.27	0.939	0.18631	0.629000	0.24229	2.328000	0.32177	-0.362000	0.05498	0.003000	0.16062	0.998000	0.33993	0.930000	0.46718	0.0:0.6578:0.3422:0.0	11.799	0.51390	.	.	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1627.98	35	chr17	82052365	.	C	T	1627.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.890e-01;DP=845;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=0.297;SOR=0.653	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1241	20	0	1	0
chr17	82084074	82084074	G	A	exonic	FASN	.	nonsynonymous SNV	FASN:NM_004104:exon29:c.C4999T:p.P1667S,	.	.	1	1519	2	0	0	2	0.000657895	.	.	469436	Epileptic_encephalopathy	Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.32	T	0.081	B	0.055	B	0.717	N	1.000	N	1.54	L	1.47	T	-1.040	T	0.002	T	0.104	-0.595	1.339	2.39	0.903	3.926	5.552	0.064	.	0.0006	0.0283546	0.0090	0.0035	0.0039	0.2087	0	0	0.0072	0.0052	0.0058731	908	154602	rs45557233	0.0035	0.0036	0.0034	0.0037	0.1031	0.0035	0.0034	0.1004	0.0992	0.0008	0.0004	0	0.1031	0.0002	0.0007	5.174e-05	0.0107	0.0066	0.0056	0.0056	0.0049	0.0063	0.1355	0.0053	0.0052	0.1272	0.1239	0.0016	0	0.0008	0	0.1355	9.409e-05	0	8.821e-05	0.0061	0.0106	0.461	0.08710	T	0.501	0.11153	T	0.081	0.24602	B	0.055	0.25995	B	0.716872	0.06290	N	1.149520	1	0.08975	N	1.155	0.29575	L	1.47	0.31987	T	-0.69	0.19720	N	0.277	0.31365	-1.0399	0.17343	T	0.002	0.00556	T	10	0.0039016604	0.00074	T	.	.	.	0.064	0.18567	.	.	.	.	0.5581640021688828	0.55743	.	.	0.287244170904	0.08522	T	0.342531	0.71130	T	-0.691452	0.00041	T	-0.623721	0.10896	T	0.00429868916182287	0.00046	T	0.949005	0.80370	D	0.107773475	0.25484	0.07148801	0.15314	0.107773475	0.25484	0.07148801	0.15313	-5.087	0.37769	T	.	.	0.104	0.18787	B	.;.	.;.	1.895549	0.24075	16.26	0.74771795795048956	0.10821	0.93716	0.58987	D	AEFDBHCI	0.291375	0.40252	N	-0.588725630601538	0.19285	1.00817	-0.603990895344846	0.19390	1.040108	0.935449077261282	0.27213	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.57	2.39	0.28492	3.983000	0.56625	6.914000	0.56908	0.618000	0.50648	0.628000	0.27982	0.998000	0.33993	0.001000	0.02609	0.112:0.0:0.4323:0.4557	5.552	0.16384	.	.	Polyketide synthase, enoylreductase domain;Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1488.98	36	chr17	82084074	.	G	A	1488.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=923;ExcessHet=0.0000;FS=0.661;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.45;ReadPosRankSum=-2.910e-01;SOR=0.821	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,120,1440	20	0	1	0
chr17	82101721	82101721	C	A	exonic	CCDC57	.	nonsynonymous SNV	CCDC57:NM_001367828:exon17:c.G1569T:p.Q523H	.	.	419	1098	5	0	0	5	0.00227169	.	.	2672891	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.987	D	0.865	P	.	.	1.000	N	0.805	L	2.57	T	-1.061	T	0.040	T	0.107	0.046	4.253	2.27	0.482	0.023	4.468	0.083	0.00652324118173	.	.	0.0001	0	0	0	0.0003	9.071e-05	0	0.0003	9.06e-05	14	154602	rs778373349	9.414e-05	9.645e-05	8.342e-05	0.0001	0.0028	8.129e-05	7.618e-05	0.0017	0.0014	3.026e-05	2.308e-05	0	0	0.0004	0.0028	5.587e-05	0.0002	0.0003	7.883e-05	7.879e-05	7.705e-05	8.07e-05	0.0001	4.496e-05	3.511e-05	5.842e-05	4.24e-05	0	0	6.543e-05	0	0	9.409e-05	0	0.0001	0.0010	0	0.097	0.30943	T	0.03	0.54159	D	0.987	0.61912	D	0.865	0.61524	P	.	.	.	.	1	0.08975	N	0.895	0.22405	L	2.57	0.13552	T	-1.59	0.38345	N	0.164	0.17278	-1.0606	0.11607	T	0.040	0.17362	T	9	0.09540343	0.17038	T	0.006523	0.17186	T	0.083	0.24192	0.142	0.04556	0.403328974453	0.39946	.	.	.	.	0.241057351232	0.02886	T	0.00855	0.07843	T	-0.523547	0.00419	T	-0.697666	0.05954	T	0.0400891751050949	0.03707	T	0.475952	0.14261	T	0.05568912	0.10857	0.04566919	0.06197	0.05568912	0.10856	0.04566919	0.06196	.	.	.	.	.	0.225	0.45665	B	.;.	.;.	0.885690	0.12589	9.117	0.95639040115299123	0.27433	0.10010	0.15632	N	AEFBCI	0.061198	0.11683	N	-0.565795717266954	0.19991	1.050571	-0.757400576351884	0.15540	0.8178113	0.999993391931782	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.584781	0.30282	0	0.592323	0.36904	0	.	.	3.26	2.27	0.27501	0.110000	0.15273	0.185000	0.15676	-0.187000	0.09635	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2161:0.6571:0.0:0.1268	4.468	0.11119	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3129.11	36	chr17	82101721	.	C	A	3129.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-8.170e-01;DP=1070;ExcessHet=0.1072;FS=3.655;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=1.91;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,120,1800	19	0	2	0
chr17	82253179	82253179	G	C	exonic	CSNK1D	.	nonsynonymous SNV	CSNK1D:NM_001363749:exon4:c.C402G:p.F134L	Advanced sleep-phase syndrome, familial, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.345	M	0.05	T	-0.291	T	0.378	T	0.868	1.497	10.95	-2.31	-0.428	1.091	14.272	0.585	0.294920260008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.976	0.74843	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.075	0.57047	M	0.05	0.61923	T	-5.77	0.87911	D	0.856	0.86191	-0.2906	0.75249	T	0.378	0.73572	T	10	0.8558959	0.84786	D	0.29492	0.90689	D	0.585	0.83360	0.713	0.84872	0.794112205518	0.79219	0.8391474319513283	0.83874	2.45932965126	0.97411	0.943554639816	0.99578	D	0.463857	0.79964	T	0.245163	0.78146	D	0.114383	0.77862	D	0.996541440486908	0.89565	D	0.972453	0.90829	D	0.9611103	0.97392	0.90685	0.95464	0.9611103	0.97392	0.90685	0.95465	-13.686	0.91992	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.476840	0.48528	22.6	0.94285568772606809	0.24584	0.90166	0.51131	D	AEFDGBHCI	0.511037	0.53983	D	-0.0133870369408241	0.41248	2.46393	-0.161674069915806	0.32961	1.880536	0.999992497670314	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.55	-2.31	0.06380	1.140000	0.31128	1.624000	0.27703	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.797000	0.37605	0.285:0.0:0.715:0.0	14.272	0.65705	.	.	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1818	417.46	117	chr17	82253179	.	G	C	417.46	.	AC=4;AF=0.182;AN=22;BaseQRankSum=-4.148e+00;DP=3037;ExcessHet=0.6776;FS=215.249;InbreedingCoeff=-0.2728;MLEAC=6;MLEAF=0.273;MQ=60.00;MQRankSum=0.00;QD=0.50;ReadPosRankSum=1.94;SOR=11.003	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:139,0:139:0:.:.:0,0,2615	7	0	4	10
chr17	82316217	82316217	G	A	exonic	CD7	.	nonsynonymous SNV	CD7:NM_006137:exon3:c.C590T:p.A197V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.054	B	0.004	B	0.128	N	1.000	N	-0.345	N	2.11	T	-1.010	T	0.020	T	0.079	-0.024	3.891	0.903	0.167	-0.333	4.669	0.017	0.00456283346252	.	0.000199681	0.0002	0	0	0.0010	0	0	0	0.0004	7.12e-05	11	154602	rs75967263	2.337e-05	2.941e-05	2.66e-05	2.006e-05	0.0004	1.667e-05	1.466e-05	0.0001	0.0001	0	0	0	0.0003	0	0.0004	1.289e-05	0	8.694e-05	5.253e-05	5.249e-05	5.14e-05	5.372e-05	0.0010	2.556e-05	1.829e-05	0.0004	0.0002	2.405e-05	0	0	0	0.0010	0	0	1.47e-05	0.0005	0	1.0	0.00964	T	1.0	0.92824	T	0.054	0.22658	B	0.004	0.10090	B	0.127550	0.02780	N	1.880180	1	0.08975	N	-0.425	0.02884	N	1.46	0.40218	T	0.73	0.02068	N	0.017	0.02179	-1.0102	0.26854	T	0.020	0.08360	T	10	0.012096196	0.00261	T	0.004563	0.11252	T	0.017	0.02790	.	.	0.0762999501168	0.06990	0.228138269338464	0.22728	0.13491142869	0.15200	0.321971803904	0.13721	T	0.009665	0.20077	T	-0.599939	0.00146	T	-0.702024	0.05715	T	0.0076061803385014	0.00088	T	0.557644	0.26722	T	0.01818197	0.00339	0.03529217	0.02752	0.01818197	0.00339	0.03529217	0.02752	-4.277	0.27853	T	.	.	0.129	0.36355	B	.;.;.;.	.;.;.;.	-0.013267	0.04192	1.018	0.78160636043347531	0.12181	0.01955	0.05937	N	AEFDBCI	0.037661	0.05213	N	-1.33742483042633	0.03257	0.145183	-1.32299064678116	0.04135	0.1943758	0.999999570129134	0.74766	0.65757	0.49021	0	0.615948	0.52940	0	0.619478	0.44681	0	0.562822	0.20929	0	.	.	3.14	0.903	0.18428	-0.248000	0.08872	0.287000	0.16831	-0.258000	0.06954	0.000000	0.06391	0.000000	0.08366	0.195000	0.21750	0.6981:0.0:0.3019:0.0	4.669	0.12066	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1025.98	77	chr17	82316217	.	G	A	1025.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.389;DP=782;ExcessHet=0.0000;FS=3.114;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=0.706;SOR=0.368	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1063	20	0	1	0
chr17	82322337	82322337	C	A	exonic	SECTM1	.	nonsynonymous SNV	SECTM1:NM_003004:exon5:c.G571T:p.V191F,	.	.	412	1101	8	1	0	10	0.0045208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.0	B	0.0	B	.	.	1.000	N	0.345	N	.	.	-1.035	T	0.028	T	0.112	0.361	5.961	-1.73	-0.862	-0.347	1.957	0.024	.	0.0048	0.00559105	0.0056	0.0011	0.0027	0	0.0006	0.0058	0.0056	0.0149	0.0058085	898	154602	rs17855476	0.0078	0.0078	0.0075	0.0080	0.0164	0.0076	0.0076	0.0156	0.0154	0.0010	0.0020	0.0080	0	0.0006	0.0115	0.0082	0.0072	0.0164	0.0051	0.0051	0.0052	0.0049	0.0153	0.0048	0.0046	0.0125	0.0115	0.0013	0.0373	0.0024	0.0081	0	0.0006	0.0170	0.0077	0.0043	0.0153	0.211	0.19569	T	0.151	0.32355	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	.	.	.	-0.38	0.13418	N	0.088	0.06587	-1.0352	0.18794	T	0.028	0.11926	T	8	0.002844125	0.00045	T	.	.	.	0.024	0.04979	.	.	0.154104182512	0.14974	0.06365816293353661	0.06304	0.179775185695	0.20224	0.41594094038	0.27277	T	0.005948	0.05392	T	-0.63319	0.00091	T	-0.669337	0.07651	T	0.000741409941680428	0.00007	T	0.291471	0.05330	T	0.046341494	0.07740	0.052156765	0.08536	0.046341494	0.07740	0.052156765	0.08535	-5.561	0.42434	T	.	.	0.088	0.11606	B	.	.	-0.098779	0.03647	0.729	0.93253692623701145	0.22944	0.00243	0.01347	N	AEFDBCI	0.024067	0.01432	N	-1.66519062439469	0.00973	0.04215244	-1.76799421538723	0.00867	0.03876329	0.999973136327493	0.50053	0.646311	0.45356	0	0.610034	0.51514	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	0.867	-1.73	0.07646	-3.009000	0.00712	-1.190000	0.06072	-2.360000	0.00306	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3988:0.3048:0.0:0.2964	1.957	0.03173	.	.	.	.	.	.	.	rs17855476	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1369.98	35	chr17	82322337	.	C	A	1369.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.700e-02;DP=771;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.05;ReadPosRankSum=1.31;SOR=0.699	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1198	20	0	1	0
chr17	82362161	82362161	C	T	exonic	TEX19	.	nonsynonymous SNV	TEX19:NM_207459:exon2:c.C11T:p.P4L,	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	D	1.04	L	.	.	-0.540	T	0.268	T	0.656	3.005	16.02	4.3	2.298	1.604	12.958	0.230	0.0266782879613	7.7e-05	0.000399361	0.0003	0	0	0	0	0.0002	0.0012	0.0017	0.0002523	39	154602	rs371327683	0.0002	0.0002	0.0002	0.0002	0.0015	0.0002	0.0002	0.0013	0.0012	2.992e-05	0.0001	0	0	1.947e-05	0.0007	0.0002	0.0003	0.0015	0.0002	0.0002	0.0002	0.0001	0.0023	0.0001	0.0001	0.0013	0.0010	4.81e-05	0	0.0001	0	0	0	0	0.0002	0.0005	0.0023	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999924	0.51308	D	2.455	0.71248	M	.	.	.	-9.05	0.98150	D	0.406	0.44666	-0.5397	0.67174	T	0.268	0.63939	T	8	0.046812445	0.03919	T	0.026678	0.49566	D	0.230	0.53062	.	.	0.199424873507	0.19547	0.05295487427555063	0.05237	0.647694144754	0.58144	0.486621439457	0.36971	T	0.107661	0.42006	T	-0.174599	0.24542	T	-0.0536546	0.66771	D	0.349556289648959	0.27002	T	0.668433	0.27736	T	0.6048801	0.72953	0.625678	0.78180	0.6048801	0.72954	0.625678	0.78181	-2.906	0.09203	T	.	.	0.520	0.65470	A	.	.	3.524665	0.49421	22.8	0.99844238629058013	0.92403	0.79468	0.39384	D	AEFDBI	0.065220	0.12709	N	0.302031641081944	0.56254	3.789704	0.230931081528577	0.51573	3.338556	0.999999973698644	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.633917	0.49826	0	.	.	4.3	4.3	0.50540	1.803000	0.38500	2.517000	0.33102	0.599000	0.40250	0.990000	0.36992	0.948000	0.28948	0.110000	0.18741	0.0:1.0:0.0:0.0	12.958	0.57839	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1211.98	41	chr17	82362161	.	C	T	1211.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=767;ExcessHet=0.0000;FS=3.349;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.16;ReadPosRankSum=1.58;SOR=1.225	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1287	20	0	1	0
chr17	82586121	82586121	A	C	exonic	FOXK2	.	nonsynonymous SNV	FOXK2:NM_004514:exon7:c.A1497C:p.Q499H,	.	.	393	1121	8	0	0	8	0.00355556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.98	D	0.861	P	0.001	D	1.000	N	1.1	L	-3.33	D	0.140	D	0.730	D	0.689	2.245	13.46	-2.09	-0.523	0.400	9.944	0.534	0.133053485112	7.7e-05	0.000399361	0.0008	0	0.0003	0	0	0.0002	0	0.0051	0.0006339	98	154602	rs376958736	0.0004	0.0004	0.0003	0.0005	0.0049	0.0004	0.0004	0.0043	0.0042	0	8.946e-05	0	2.519e-05	0	0.0049	8.994e-05	0.0007	0.0047	0.0002	0.0002	0.0001	0.0003	0.0039	0.0001	0.0001	0.0026	0.0021	2.407e-05	0	6.539e-05	0	0	0.0003	0.0068	2.94e-05	0.0009	0.0039	0.001	0.78490	D	0.183	0.29153	T	0.966	0.56202	D	0.641	0.52117	P	0.000997	0.40743	D	0.169760	0.999531	0.21028	N	2.085	0.57729	M	-3.33	0.93928	D	-2.41	0.52938	N	0.552	0.57775	0.140	0.84885	D	0.730	0.90773	D	10	0.023996174	0.00645	T	0.133053	0.81541	D	0.534	0.80426	0.421	0.46365	0.896053773321	0.89502	0.40317187685952	0.40233	0.291387011894	0.31546	0.535025596619	0.43743	T	0.223642	0.58785	T	-0.0890647	0.38231	T	0.100517	0.76944	D	0.127231458997098	0.15124	T	0.852415	0.53747	D	0.21517342	0.43943	0.19007951	0.42391	0.21517342	0.43943	0.19007951	0.42390	-5.239	0.39336	T	.	.	0.136	0.29642	B	.	.	1.708418	0.21757	15.34	0.97958665010613577	0.37158	0.78737	0.38892	D	AEFDGBCI	0.209792	0.33575	N	-0.510546481628883	0.21738	1.155841	-0.658063672602843	0.18013	0.9604079	0.785491754928936	0.23922	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.53	-2.09	0.06831	0.688000	0.25103	0.482000	0.18815	-0.065000	0.16512	1.000000	0.71638	0.602000	0.25724	0.082000	0.17360	0.3034:0.1207:0.5759:0.0	9.944	0.40767	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1370.98	33	chr17	82586121	.	A	C	1370.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.099;DP=892;ExcessHet=0.0000;FS=1.220;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.53;ReadPosRankSum=-2.069e+00;SOR=0.598	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1213	20	0	1	0
chr17	82586200	82586200	G	A	exonic	FOXK2	.	nonsynonymous SNV	FOXK2:NM_004514:exon7:c.G1576A:p.V526M,	.	.	.	.	.	.	.	.	.	1.0000	0.976	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.941	P	0.771	P	0.000	D	1.000	D	1.525	L	-3.35	D	0.599	D	0.808	D	0.702	2.972	15.91	5.12	2.648	6.853	18.728	0.601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.45393	D	0.149	0.32568	T	0.941	0.52883	P	0.595	0.50587	P	0.000004	0.62929	D	0.061410	1	0.81001	D	2.19	0.61577	M	-3.35	0.94022	D	-1.42	0.34992	N	0.673	0.68082	0.599	0.91890	D	0.808	0.93533	D	10	0.78622496	0.78270	D	0.160029	0.84011	D	0.601	0.84237	0.353	0.35246	0.844835477414	0.84335	0.45515417182609946	0.45433	0.158246879957	0.17873	0.646238565445	0.59451	T	0.243245	0.61214	T	0.264364	0.79931	D	0.141964	0.79673	D	0.971274137496948	0.69256	D	0.963704	0.86510	D	0.18364947	0.39642	0.1284259	0.30897	0.18364947	0.39642	0.1284259	0.30896	-8.086	0.61655	D	.	.	0.299	0.52889	B	.	.	5.573957	0.92244	32	0.99809682586807391	0.89353	0.97752	0.76876	D	AEFDGBCIJ	0.868439	0.78856	D	0.338164635219055	0.58117	3.982265	0.296496544479542	0.55335	3.696615	0.999999902859379	0.74766	0.751926	0.98777	0	0.702456	0.74545	0	0.639134	0.45391	0	0.711	0.71501	0	.	.	5.12	5.12	0.69459	5.403000	0.66083	11.633000	0.93719	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.180000	0.21296	0.0:0.0:1.0:0.0	18.728	0.91687	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1350.98	33	chr17	82586200	.	G	A	1350.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.61;DP=866;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.37;MQRankSum=-3.470e-01;QD=14.68;ReadPosRankSum=0.217;SOR=0.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1213	20	0	1	0
chr17	82587104	82587104	G	A	exonic	FOXK2	.	nonsynonymous SNV	FOXK2:NM_004514:exon8:c.G1618A:p.G540S,	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.982	D	0.655	P	0.000	D	0.635	D	0.55	N	-3.32	D	0.204	D	0.644	D	0.784	2.554	14.50	4.21	1.407	5.644	10.159	0.458	0.109527801523	0.0009	0.00199681	0.0012	0.0006	0.0007	0.0006	0.0006	0.0012	0.0022	0.0024	0.0012354	191	154602	rs146173102	0.0012	0.0012	0.0012	0.0013	0.0069	0.0012	0.0012	0.0052	0.0046	0.0008	0.0018	7.654e-05	0.0003	0.0005	0.0069	0.0013	0.0013	0.0019	0.0016	0.0016	0.0015	0.0017	0.0042	0.0014	0.0013	0.0034	0.0031	0.0008	0.0175	0.0042	0	0.0002	0.0005	0	0.0016	0.0009	0.0017	0.32	0.13566	T	0.516	0.10607	T	0.969	0.56768	D	0.453	0.46205	P	0.000019	0.62929	D	0.116585	0.635172	0.32825	D	1.935	0.51832	L	-3.32	0.93882	D	-1.57	0.37955	N	0.459	0.49602	0.204	0.85981	D	0.644	0.87575	D	10	0.017086625	0.00363	T	0.109528	0.78653	D	0.458	0.75619	.	.	0.952294340222	0.95179	0.4196120269935411	0.41877	0.267531380443	0.29297	0.496399670839	0.38326	T	0.217615	0.58011	T	-0.0475569	0.44818	T	0.154296	0.80454	D	0.0327815234043562	0.02435	T	0.893011	0.63001	D	0.04873817	0.08542	0.07729893	0.17204	0.04873817	0.08542	0.07729893	0.17204	-3.03	0.10508	T	.	.	0.095	0.14933	B	.	.	2.957761	0.39377	20.9	0.99408174414756645	0.63122	0.97893	0.77924	D	AEFBI	0.600503	0.59311	D	-0.121047941914808	0.36477	2.108977	-0.152317994270028	0.33320	1.90471	0.98530964943548	0.30864	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.18	4.21	0.48984	4.913000	0.63039	6.755000	0.56521	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.015000	0.10482	0.1515:0.0:0.8485:0.0	10.159	0.42017	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2649.98	112	chr17	82587104	.	G	A	2649.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.99;DP=1679;ExcessHet=0.0000;FS=2.685;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.80;ReadPosRankSum=-4.360e-01;SOR=0.933	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	20	0	1	0
chr17	82718962	82718962	-	A	exonic	FN3KRP	.	frameshift insertion	FN3KRP:NM_024619:exon2:c.199dupA:p.T67Nfs*47,	.	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0	0	0	0	0	0.0011	0.0040	0.0004334	67	154602	rs781761828	0.0003	0.0003	0.0001	0.0004	0.0044	0.0003	0.0002	0.0040	0.0039	0	0	0	2.519e-05	0	0.0002	2.698e-06	0.0003	0.0044	8.535e-05	8.53e-05	0	0.0002	0.0027	4.953e-05	3.96e-05	0.0016	0.0013	0	0	0	0	0	0	0	0	0	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1549.94	36	chr17	82718962	.	C	CA	1549.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.411e+00;DP=817;ExcessHet=0.0000;FS=2.581;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.35;ReadPosRankSum=3.16;SOR=0.462	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1340	20	0	1	0
chr17	82927985	82927985	A	G	exonic	TBCD	.	nonsynonymous SNV	TBCD:NM_005993:exon30:c.A2690G:p.H897R,	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, Autosomal recessive	.	421	1100	1	0	0	1	0.000454339	.	.	1018405	Inborn_genetic_diseases|Early-onset_progressive_diffuse_brain_atrophy-microcephaly-muscle_weakness-optic_atrophy_syndrome|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0044646,MedGen:C4310671,OMIM:617193,Orphanet:496641|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.213	B	0.124	B	0.034	N	1.000	N	0.49	N	-0.36	T	-0.994	T	0.151	T	0.069	0.374	6.032	-4.11	-1.191	0.133	7.409	0.070	0.044564155894	.	.	2.505e-05	0.0001	0	0	0	1.514e-05	0	6.071e-05	1.94e-05	3	154602	rs745875454	2.881e-05	2.873e-05	3.139e-05	2.62e-05	0.0031	2.157e-05	1.913e-05	0.0020	0.0017	0.0003	2.237e-05	0	0	0	0.0031	7.199e-06	6.632e-05	1.159e-05	1.313e-05	1.312e-05	0	2.686e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	1.47e-05	0	0	0.483	0.08164	T	0.516	0.10607	T	0.132	0.27209	B	0.124	0.32546	B	0.034162	0.01782	N	2.053350	1	0.08975	N	1.725	0.44537	L	-0.36	0.68754	T	-2.1	0.47852	N	0.104	0.10483	-0.9941	0.31538	T	0.151	0.47874	T	9	0.051666856	0.05084	T	0.044564	0.61552	D	0.070	0.20419	0.372	0.38340	0.370608029945	0.36667	0.17930706247777872	0.17849	0.35463631042	0.37235	0.335365891457	0.15743	T	0.034006	0.23149	T	-0.295564	0.09084	T	-0.554677	0.16879	T	0.280776590108871	0.24204	T	0.535646	0.18100	T	0.048272073	0.08386	0.069560565	0.14671	0.048272073	0.08386	0.069560565	0.14670	-2.267	0.04378	T	0.2624155680177993	0.35415	0.057	0.00563	B	.;.	.;.	2.535007	0.32784	19.15	0.62159171479759556	0.06891	0.05806	0.11743	N	AEFDBI	0.081317	0.16452	N	-1.10249047658287	0.06599	0.3042194	-1.16375378585024	0.06525	0.3143264	0.00282010899865103	0.09726	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.17	-4.11	0.03662	-0.178000	0.09775	0.112000	0.14796	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.570000	0.30651	0.3824:0.4571:0.1605:0.0	7.409	0.26179	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1808.98	36	chr17	82927985	.	A	G	1808.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=918;ExcessHet=0.0000;FS=1.092;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.78;ReadPosRankSum=-1.168e+00;SOR=0.782	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr17	82941466	82941466	C	T	exonic	TBCD	.	nonsynonymous SNV	TBCD:NM_005993:exon38:c.C3547T:p.P1183S,	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	.	.	1.000	D	3.07	M	1.27	T	-0.415	T	0.276	T	0.646	3.684	18.72	4.96	2.490	5.545	14.086	0.329	0.140029478088	.	.	4.965e-05	0	0	0	0	9.012e-05	0	0	1.94e-05	3	154602	rs761205495	1.036e-05	1.163e-05	9.605e-06	1.113e-05	0.0009	6.22e-06	4.93e-06	0.0003	0.0002	0	0	0	0	0	0.0009	4.519e-06	1.668e-05	4.78e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999997	0.58761	D	3.125	0.87999	M	1.27	0.53088	T	-6.15	0.90178	D	0.716	0.71854	-0.4155	0.71535	T	0.276	0.64773	T	8	0.7846153	0.78140	D	0.140029	0.82249	D	0.329	0.65126	0.479	0.55823	0.831686575069	0.83008	0.773659305103135	0.77315	1.00406170843	0.74518	0.537654995918	0.44114	T	0.224918	0.58950	T	0.0971274	0.63980	D	-0.0982597	0.63532	T	0.954907511613834	0.64377	D	0.928407	0.74830	D	0.5667568	0.70882	0.5384087	0.73324	0.5667568	0.70883	0.5384087	0.73325	-4.712	0.33549	T	.	.	0.514	0.75630	A	.;.;.	.;.;.	4.238196	0.64232	24.7	0.99919801199171421	0.98654	0.96831	0.71175	D	AEFDBI	0.755796	0.69525	D	0.707138907630852	0.80100	7.220213	0.615279318897954	0.76047	6.419953	0.999813635626893	0.43459	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.96	4.96	0.65153	6.140000	0.71491	7.543000	0.60123	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.853000	0.40368	0.0:1.0:0.0:0.0	14.086	0.64485	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1286.98	35	chr17	82941466	.	C	T	1286.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.379;DP=932;ExcessHet=0.0000;FS=4.734;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=0.897;SOR=1.157	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	20	0	1	0
chr18	47397	47397	A	G	exonic	TUBB8B	.	nonsynonymous SNV	TUBB8B:NM_001358689:exon4:c.T1328C:p.V443A,	.	.	39	1474	3	0	6	9	0.0010166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.333	U	.	.	.	.	-1.17	T	-0.571	T	0.350	T	0.391	-0.824	0.613	-0.218	-1.418	-3.794	3.311	0.315	.	.	0.000998403	0.0048	0.0005	0.0031	0	0	0.0015	0	0.0208	0.0011319	175	154602	rs543847261	0.0013	0.0010	0.0008	0.0017	0.0098	0.0012	0.0012	0.0092	0.0090	4.533e-05	0.0007	0.0039	0	0	0.0037	0.0004	0.0012	0.0098	0.0006	0.0007	0.0006	0.0007	0.0071	0.0005	0.0005	0.0050	0.0044	0.0001	0	0.0006	0.0049	0	0	0	0.0005	0	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	0.333067	0.14082	U	0.506720	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.5705	0.65994	T	0.350	0.71423	T	6	0.005631894	0.00125	T	.	.	.	0.315	0.63694	0.096	0.01287	0.104622674875	0.10061	0.045173317144472445	0.04461	.	.	.	.	.	.	.	.	-0.0386622	0.46147	T	-0.293312	0.45427	T	0.00136554006221872	0.00014	T	0.183482	0.01887	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.01367	B	.	.	0.287563	0.06639	3.138	0.23160061763672588	0.00966	0.00429	0.02107	N	AEFBI	0.027658	0.02299	N	-1.29934665267713	0.03684	0.1650012	-1.55233019148236	0.01960	0.08948774	1.11432894442766E-6	0.01202	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.109	-0.218	0.12495	-0.643000	0.05518	5.128000	0.47635	-0.517000	0.04986	0.000000	0.06391	1.000000	0.68203	0.015000	0.10482	0.3608:0.0:0.0:0.6391	3.311	0.06604	958	0.09170	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	440.11	19	chr18	47397	.	A	G	440.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.328e+00;DP=399;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=40.00;MQRankSum=0.00;QD=10.73;ReadPosRankSum=0.535;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,7:23:99:0|1:47397_A_G:246,0,651:47397	19	0	2	0
chr18	47400	47400	T	A	exonic	TUBB8B	.	nonsynonymous SNV	TUBB8B:NM_001358689:exon4:c.A1325T:p.E442V,	.	.	39	1474	3	0	6	9	0.0010166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.097	U	.	.	.	.	-0.56	T	-0.536	T	0.280	T	0.559	0.278	5.502	0.109	0.156	3.734	4.622	0.290	.	.	0.000998403	0.0045	0.0004	0.0028	0	0	0.0015	0	0.0194	5.17e-05	8	154602	rs562842438	0.0013	0.0010	0.0008	0.0017	0.0099	0.0012	0.0012	0.0093	0.0091	4.423e-05	0.0008	0.0039	0	0	0.0040	0.0004	0.0012	0.0099	0.0006	0.0007	0.0006	0.0007	0.0069	0.0005	0.0005	0.0048	0.0042	0.0001	0	0.0006	0.0049	0	0	0	0.0005	0	0.0069	.	.	.	.	.	.	.	.	.	.	.	.	0.096925	0.20052	U	0.416142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.5363	0.67304	T	0.280	0.65229	T	6	0.004152298	0.00082	T	.	.	.	0.290	0.60924	0.166	0.07071	0.529561333529	0.52604	0.19734100328541077	0.19651	.	.	.	.	.	.	.	.	0.00873099	0.52851	T	-0.225235	0.52233	T	0.0312173155624318	0.02180	T	0.279972	0.04873	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.24498	B	.	.	2.018511	0.25648	16.84	0.54138458118977728	0.05078	0.84034	0.43120	D	AEFBI	0.264245	0.38163	N	-0.455377350519853	0.23558	1.265943	-0.656872253338677	0.18044	0.9621582	7.32725240324717E-5	0.04552	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.109	0.109	0.13884	3.951000	0.56392	7.661000	0.64234	0.319000	0.19345	0.998000	0.41325	1.000000	0.68203	0.062000	0.16114	0.0:4.0E-4:0.0:0.9996	4.622	0.11842	958	0.09170	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	440.11	19	chr18	47400	.	T	A	440.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.198e+00;DP=404;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=40.00;MQRankSum=0.00;QD=10.73;ReadPosRankSum=0.234;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,7:23:99:0|1:47397_A_G:246,0,651:47397	19	0	2	0
chr18	331717	331717	C	T	exonic	COLEC12	.	nonsynonymous SNV	COLEC12:NM_130386:exon8:c.G2014A:p.E672K,	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.971	D	0.797	P	0.000	D	1.000	D	1.315	L	2.29	T	-1.207	T	0.057	T	0.602	3.716	18.87	5.73	2.714	3.471	19.882	0.172	0.042539197625	0.0038	0.000599042	0.0025	0.0017	0.0002	0	0.0011	0.0040	0.0022	0.0005	0.0027231	421	154602	rs149622251	0.0045	0.0045	0.0046	0.0043	0.0055	0.0044	0.0043	0.0054	0.0053	0.0006	0.0008	0.0008	0	0.0017	0.0002	0.0055	0.0034	0.0004	0.0025	0.0025	0.0027	0.0022	0.0044	0.0023	0.0022	0.0039	0.0038	0.0010	0	0.0012	0.0009	0	0.0013	0.0034	0.0044	0.0019	0.0004	0.006	0.61437	D	0.155	0.31936	T	0.971	0.57185	D	0.797	0.58061	P	0.000005	0.62929	D	0.104471	0.999998	0.58761	D	1.045	0.26769	L	2.29	0.17113	T	-1.3	0.32590	N	0.516	0.54671	-1.2068	0.00106	T	0.057	0.24018	T	10	0.00739038	0.00168	T	0.042539	0.60515	D	0.172	0.43662	.	.	0.19168177325	0.18762	0.7631545809910755	0.76263	0.258615917293	0.28424	0.510477542877	0.40290	T	0.019415	0.15470	T	-0.43996	0.01294	T	-0.399622	0.33427	T	0.0377702816619225	0.03292	T	0.934107	0.75346	D	0.52545774	0.68572	0.41744578	0.65798	0.52545774	0.68573	0.41744578	0.65798	-6.374	0.49307	T	.	.	0.094	0.14339	B	.	.	2.931257	0.38943	20.9	0.99806926561200193	0.89085	0.95859	0.66460	D	AEFDGBIJ	0.649631	0.62402	D	0.239515481293946	0.53122	3.48263	0.181383646395135	0.48828	3.093542	1.0	0.98316	0.538715	0.22204	0	0.573888	0.26702	0	0.618467	0.43123	0	0.563494	0.21769	0	.	.	5.73	5.73	0.89730	3.532000	0.53310	3.431000	0.38316	0.545000	0.25583	0.938000	0.32564	0.998000	0.33993	0.067000	0.16453	0.0:1.0:0.0:0.0	19.882	0.96900	883	0.28872	C-type lectin-like|C-type lectin-like|C-type lectin-like|CD209-like, C-type lectin-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	867.98	33	chr18	331717	.	C	T	867.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.082e+00;DP=786;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.86;ReadPosRankSum=0.781;SOR=0.613	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1192	20	0	1	0
chr18	346546	346546	G	A	exonic	COLEC12	.	nonsynonymous SNV	COLEC12:NM_130386:exon5:c.C1076T:p.T359M,	.	.	434	1083	5	0	0	5	0.00230309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.992	D	0.549	P	0.000	D	0.999	D	0.805	L	-1.18	T	-0.258	T	0.357	T	0.539	2.500	14.32	4.98	1.467	5.357	17.022	0.435	0.0648651348792	.	0.000199681	0.0004	9.61e-05	0.0003	0.0002	0	0.0004	0.0011	0.0013	0.000414	64	154602	rs568456291	0.0004	0.0004	0.0003	0.0004	0.0015	0.0003	0.0003	0.0013	0.0012	2.987e-05	0.0007	0.0005	0.0001	0	0.0014	0.0003	0.0006	0.0015	0.0004	0.0004	0.0004	0.0004	0.0017	0.0003	0.0003	0.0008	0.0006	2.406e-05	0	0.0005	0.0006	0	0	0.0068	0.0005	0.0028	0.0017	0.003	0.68238	D	0.002	0.79402	D	0.992	0.64738	D	0.549	0.49194	P	0.000004	0.62929	D	0.141045	0.998568	0.45092	D	1.87	0.49600	L	-1.18	0.78314	T	-2.14	0.48523	N	0.203	0.22486	-0.2578	0.76147	T	0.357	0.71959	T	10	0.040530205	0.02629	T	0.064865	0.69406	D	0.435	0.74022	.	.	0.319322697148	0.31537	0.574329929693636	0.57361	0.271808930421	0.29692	0.484564900398	0.36686	T	0.054285	0.29681	T	-0.217492	0.18337	T	-0.115267	0.62189	T	0.0870696657288214	0.10867	T	0.856214	0.54490	D	0.20782071	0.42999	0.29562342	0.55594	0.20782071	0.42999	0.29562342	0.55593	-5.043	0.37304	T	.	.	0.083	0.09433	B	.	.	3.857184	0.55911	23.7	0.99428046719880814	0.64130	0.97680	0.76366	D	AEFDBI	0.803002	0.72827	D	0.244878095321043	0.53385	3.507693	0.317071258058213	0.56543	3.817715	0.999999996156176	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.86	4.98	0.65679	6.487000	0.73540	7.569000	0.60664	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1273:0.8727:0.0	17.022	0.86311	823	0.40596	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2027.98	158	chr18	346546	.	G	A	2027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.07;DP=858;ExcessHet=0.0000;FS=1.986;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=0.640;SOR=0.720	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1258	20	0	1	0
chr18	669146	669146	A	G	exonic	TYMS	.	nonsynonymous SNV	TYMS:NM_001354868:exon2:c.A280G:p.I94V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.813	P	0.573	P	0.000	D	1.000	D	3.695	H	.	.	0.084	D	0.460	T	0.36	3.870	19.67	3.02	0.907	5.753	12.411	0.609	0.0150012600929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.008	0.67890	D	0.487	0.36886	P	0.573	0.49966	P	0.000000	0.84330	D	0.090944	1	0.81001	D	3.18	0.88827	M	.	.	.	-0.67	0.20576	N	0.435	0.47395	0.084	0.83871	D	0.460	0.79061	T	9	0.5036172	0.61691	D	0.015001	0.35474	T	0.609	0.84666	0.642	0.77903	0.340919117937	0.33698	0.57782318669284	0.57711	0.876382934453	0.69585	0.559849262238	0.47247	T	0.352247	0.71971	T	0.0461689	0.57847	T	-0.171458	0.57309	T	0.938693404197693	0.60952	D	0.974802	0.92791	D	0.5951796	0.72431	0.33740193	0.59531	0.5951796	0.72432	0.33740193	0.59530	-10.087	0.74431	D	.	.	0.265	0.52977	B	.;.	.;.	3.839067	0.55545	23.6	0.99873322863001357	0.95076	0.97660	0.76227	D	AEFDBCI	0.737997	0.68302	D	0.471780638985753	0.65449	4.823928	0.424275414619141	0.63080	4.53498	0.999999747572527	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.57	3.02	0.33970	5.743000	0.68292	7.836000	0.70319	0.684000	0.82519	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.7349:0.2651:0.0:0.0	12.411	0.54800	840	0.37365	Thymidylate synthase/dCMP hydroxymethylase domain|Thymidylate synthase/dCMP hydroxymethylase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	549.98	40	chr18	669146	.	A	G	549.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.919e+00;DP=1080;ExcessHet=0.0000;FS=313.409;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.96;ReadPosRankSum=2.05;SOR=8.688	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,117,1755	20	0	1	0
chr18	2595447	2595447	C	A	exonic	NDC80	.	nonsynonymous SNV	NDC80:NM_006101:exon11:c.C1047A:p.N349K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.873	P	0.293	B	0.000	D	0.990	N	1.87	L	-0.05	T	-0.787	T	0.145	T	0.268	0.234	5.263	-2.43	-0.771	0.177	13.927	0.261	0.0367525072599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.837	0.02832	T	1.0	0.01155	T	0.873	0.47975	P	0.293	0.40773	B	0.000005	0.62929	D	0.136800	0.989832	0.24247	N	2.005	0.54552	M	-0.05	0.63403	T	-1.19	0.30346	N	0.269	0.30461	-0.7871	0.55898	T	0.145	0.46841	T	10	0.19870612	0.35851	T	0.036753	0.57192	D	0.261	0.57352	0.572	0.69564	0.303123707472	0.29912	0.251147822608034	0.25028	0.353559346183	0.37155	0.618942677975	0.55580	T	0.079298	0.36095	T	-0.128774	0.31694	T	-0.422751	0.30761	T	0.199529064463213	0.20390	T	0.748325	0.36895	T	0.06698012	0.14463	0.088192806	0.20548	0.06698012	0.14462	0.088192806	0.20548	-4.742	0.33908	T	.	.	0.310	0.53747	B	.	.	0.019792	0.04419	1.156	0.82474970559026028	0.14211	0.07358	0.13379	N	AEFBI	0.074237	0.14873	N	-0.793184436017742	0.13486	0.6647383	-0.899326469857472	0.12110	0.621023	0.828584781319687	0.24652	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.6	-2.43	0.06145	0.182000	0.16710	-0.806000	0.07354	-0.865000	0.02600	0.047000	0.21291	0.000000	0.08366	0.928000	0.46473	0.0:0.571:0.0:0.429	13.927	0.63476	728	0.54609	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	704.98	33	chr18	2595447	.	C	A	704.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.528;DP=761;ExcessHet=0.0000;FS=0.953;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.37;ReadPosRankSum=-3.700e-02;SOR=0.569	GT:AD:DP:GQ:PL	0/1:37,31:68:99:719,0,898	20	0	1	0
chr18	2732448	2732448	G	A	exonic	SMCHD1	.	nonsynonymous SNV	SMCHD1:NM_015295:exon25:c.G3232A:p.E1078K,	Bosma arhinia microphthalmia syndrome, Autosomal dominant;Fascioscapulohumeral muscular dystrophy 2, digenic	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.919	P	0.395	B	0.000	D	0.960	D	1.155	L	1.86	T	-1.106	T	0.063	T	0.774	3.215	16.77	5.27	2.437	5.163	18.885	0.179	0.0252814111583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.18371	T	0.046	0.49120	D	0.919	0.50927	P	0.395	0.44317	B	0.000043	0.53742	D	0.122583	0.960458	0.38181	D	1.175	0.29870	L	1.86	0.24285	T	-1.2	0.30555	N	0.386	0.42737	-1.1062	0.03417	T	0.063	0.26244	T	10	0.31736785	0.49147	T	0.025281	0.48255	D	0.179	0.44899	0.395	0.42099	0.171220215726	0.16700	0.5070269732976612	0.50624	0.249247192868	0.27497	0.647655010223	0.59653	T	0.118561	0.43946	T	0.0465045	0.57891	T	-0.170976	0.57354	T	0.877296686172485	0.52719	D	0.840116	0.51512	T	0.23279612	0.46073	0.16777822	0.38688	0.23279612	0.46073	0.16777822	0.38688	-6.096	0.47076	T	0.16198928617406946	0.19868	0.217	0.44720	B	.	.	3.509325	0.49139	22.7	0.99874730886920349	0.95160	0.90737	0.52166	D	AEFGBI	0.383586	0.46503	N	0.400945318371357	0.61476	4.349073	0.476679891659967	0.66448	4.953359	0.999639206483282	0.41205	0.732398	0.92422	0	0.724815	0.89359	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.27	5.27	0.73797	5.240000	0.65201	11.860000	0.98299	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.885	0.92343	561	0.71236	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07895	153.77	59	chr18	2732448	.	G	A	153.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.508e+00;DP=1240;ExcessHet=0.3300;FS=224.230;InbreedingCoeff=-0.1187;MLEAC=3;MLEAF=0.079;MQ=60.00;MQRankSum=0.00;QD=0.55;ReadPosRankSum=2.56;SOR=8.885	GT:AD:DP:GQ:PL	0/0:78,0:78:29:0,29,1579	16	0	3	2
chr18	2890717	2890717	C	T	exonic	EMILIN2	.	nonsynonymous SNV	EMILIN2:NM_032048:exon4:c.C590T:p.T197M,	.	.	422	1094	5	1	0	7	0.00318907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.602	P	0.062	B	0.004	N	0.885	N	0.965	L	1.17	T	-1.073	T	0.052	T	0.139	1.437	10.74	4.29	0.918	3.424	11.727	0.038	0.00782729326326	7.7e-05	0.000998403	0.0003	0	0	0.0027	0	0.0001	0	0.0004	0.0003169	49	154602	rs79649705	0.0002	0.0002	0.0002	0.0002	0.0018	0.0001	0.0001	0.0015	0.0014	8.961e-05	0.0001	0	0.0018	1.873e-05	0.0009	5.845e-05	0.0002	0.0007	0.0002	0.0002	0.0002	0.0003	0.0035	0.0001	0.0001	0.0022	0.0019	7.22e-05	0	0.0001	0	0.0035	0	0	7.351e-05	0	0.0006	0.486	0.08091	T	0.417	0.14241	T	0.602	0.39365	P	0.062	0.26930	B	0.003908	0.34342	N	0.248741	0.885336	0.27978	N	1.965	0.53209	M	1.17	0.37910	T	-2.01	0.46337	N	0.113	0.10056	-1.0727	0.08830	T	0.052	0.22153	T	10	0.0076883733	0.00175	T	0.007827	0.20773	T	0.038	0.09825	.	.	0.32471235697	0.32085	0.3012411447772815	0.30037	0.116530142228	0.13144	0.324366152287	0.14083	T	0.043031	0.26373	T	-0.52403	0.00417	T	-0.526983	0.19589	T	0.0470332674119826	0.04971	T	0.721828	0.33531	T	0.030695494	0.02777	0.058587305	0.10850	0.030695494	0.02777	0.058587305	0.10849	-6.148	0.47501	T	.	.	0.093	0.13923	B	.	.	2.783044	0.36562	20.3	0.8773807508992153	0.17445	0.89678	0.50297	D	AEFBI	0.219231	0.34414	N	-0.0854595607170639	0.38030	2.221207	0.0354339367350072	0.41373	2.484534	0.999972299118827	0.50053	0.653281	0.48532	0	0.547309	0.14657	0	0.675528	0.61593	0	0.530356	0.10902	0	.	.	5.41	4.29	0.50359	4.534000	0.60334	4.024000	0.41277	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.8933:0.0:0.1067	11.727	0.50981	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1680.98	38	chr18	2890717	.	C	T	1680.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=854;ExcessHet=0.0000;FS=3.695;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.13;ReadPosRankSum=-1.485e+00;SOR=0.992	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1097	20	0	1	0
chr18	2891919	2891919	G	A	exonic	EMILIN2	.	nonsynonymous SNV	EMILIN2:NM_032048:exon4:c.G1792A:p.E598K,	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.81	T	0.084	B	0.011	B	0.027	N	1.000	N	1.525	L	1.08	T	-1.025	T	0.055	T	0.354	0.245	5.325	4.59	1.276	1.147	9.626	0.044	0.00898154119176	.	0.000798722	0.0001	0.0005	8.663e-05	0	0	0.0001	0	6.064e-05	0.0001294	20	154602	rs115304890	0.0001	0.0001	8.44e-05	0.0001	0.0031	9.049e-05	8.532e-05	0.0020	0.0017	0.0013	0.0001	7.652e-05	5.038e-05	0	0.0031	5.755e-05	0.0002	5.797e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	8.711e-05	0.0002	0.0002	0.0003	0	6.535e-05	0	0	0	0.0034	8.82e-05	0	0.0002	0.598	0.05668	T	0.278	0.21812	T	0.084	0.24799	B	0.011	0.15521	B	0.027395	0.25764	N	0.381299	1	0.08975	N	2.32	0.66415	M	1.08	0.39401	T	-1.68	0.40082	N	0.104	0.08786	-1.0254	0.21952	T	0.055	0.23375	T	10	0.013474464	0.00286	T	0.008982	0.23655	T	0.044	0.11924	.	.	0.289098819767	0.28531	0.1766504922194619	0.17584	0.0962794421504	0.10862	0.264701604843	0.05464	T	0.009718	0.08828	T	-0.389508	0.02710	T	-0.467276	0.25809	T	0.024730309587363	0.01238	T	0.681532	0.29028	T	0.049845982	0.08915	0.06503378	0.13123	0.049845982	0.08915	0.06503378	0.13122	-5.49	0.41775	T	.	.	0.083	0.09143	B	.	.	0.991137	0.13692	10.23	0.97241371861394577	0.32996	0.33760	0.24906	N	AEFDGBI	0.136333	0.25697	N	-0.665290119012213	0.17015	0.8720695	-0.621047241656392	0.18952	1.014776	0.999998276263739	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.478617	0.07155	0	.	.	5.48	4.59	0.56297	1.320000	0.33272	2.443000	0.32780	-0.828000	0.02899	0.067000	0.21986	0.884000	0.27742	0.004000	0.06068	0.0836:0.1851:0.7313:0.0	9.626	0.38914	906	0.23090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1478.98	38	chr18	2891919	.	G	A	1478.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.023;DP=851;ExcessHet=0.0000;FS=1.446;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.22;ReadPosRankSum=-1.934e+00;SOR=0.726	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1097	20	0	1	0
chr18	2906825	2906825	C	T	exonic	EMILIN2	.	nonsynonymous SNV	EMILIN2:NM_032048:exon5:c.C2402T:p.P801L,	.	.	.	.	.	.	.	.	.	.	.	2227676	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.82	T	0.033	B	0.005	B	0.838	N	1.000	N	0.46	N	-0.17	T	-1.026	T	0.096	T	0.157	2.102	12.98	0.019	-0.221	-0.089	3.910	0.025	0.200344189663	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs975844351	3.16e-05	3.42e-05	2.994e-05	3.334e-05	8.456e-05	2.331e-05	2.035e-05	2.283e-05	1.989e-05	0	8.456e-05	0	0	0	0	3.186e-05	4.237e-05	7e-05	2.632e-05	2.628e-05	1.287e-05	4.042e-05	6.554e-05	8.15e-06	5.15e-06	1.172e-05	6.25e-06	0	0	6.554e-05	0	0	0	0	4.415e-05	0	0	0.06	0.37326	T	0.041	0.50514	D	0.033	0.20350	B	0.005	0.11217	B	0.838330	0.09053	N	0.913850	0.99978	0.20372	N	1.3	0.32576	L	-0.17	0.65563	T	-0.85	0.23156	N	0.068	0.04072	-1.0259	0.21788	T	0.096	0.36238	T	10	0.07751846	0.12245	T	0.200344	0.86703	D	0.025	0.05312	0.389	0.41115	0.28798054836	0.28402	0.15232444182623417	0.15154	0.0861749078995	0.09733	0.401897251606	0.25334	T	0.006236	0.05676	T	-0.176045	0.24327	T	-0.490653	0.23322	T	0.0545793979897096	0.06287	T	0.394361	0.09853	T	0.030173287	0.02636	0.03393757	0.02372	0.030173287	0.02636	0.03393757	0.02372	-5.244	0.39386	T	.	.	0.087	0.10979	B	.	.	1.361192	0.17704	13.32	0.88586039607600997	0.18094	0.21655	0.21478	N	ALL	0.097660	0.19693	N	-1.45602840052587	0.02169	0.09551346	-1.46524354825016	0.02635	0.1215379	0.999999999980516	0.74766	0.56387	0.32371	0	0.484254	0.07192	0	0.503968	0.08637	0	0.621717	0.48901	0	.	.	3.96	0.019	0.13439	0.004000	0.13007	-1.070000	0.06423	-0.250000	0.07158	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3298:0.4872:0.0:0.1831	3.910	0.08702	912	0.21483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1465.98	19	chr18	2906825	.	C	T	1465.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.756;DP=565;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.32;ReadPosRankSum=-3.790e-01;SOR=0.674	GT:AD:DP:GQ:PL	0/0:13,0:13:39:0,39,380	20	0	1	0
chr18	2920363	2920363	C	A	exonic	LPIN2	.	nonsynonymous SNV	LPIN2:NM_001375808:exon20:c.G2621T:p.C874F	Majeed syndrome	.	0	1481	39	2	0	43	0.0143095	.	.	232039	LPIN2-related_disorder|Autoinflammatory_syndrome|not_provided|Majeed_syndrome	.|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:C3661900|MONDO:MONDO:0012316,MedGen:C1864997,OMIM:609628,Orphanet:77297	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	0.011	B	0.015	B	0.000	D	1.000	D	1.52	L	-1.41	T	-0.431	T	0.384	T	0.428	1.477	10.88	4.74	2.804	1.590	14.305	0.362	0.0242335918851	0.0002	0.00179712	0.0015	9.701e-05	0.0002	0	0	0.0004	0.0022	0.0088	0.0012807	198	154602	rs201160155	0.0008	0.0008	0.0006	0.0011	0.0092	0.0008	0.0008	0.0087	0.0085	0.0001	0.0002	0.0002	2.519e-05	0	0.0057	0.0003	0.0011	0.0092	0.0004	0.0004	0.0003	0.0006	0.0087	0.0003	0.0003	0.0066	0.0059	2.405e-05	0	6.533e-05	0	0	0	0.0034	0.0003	0.0005	0.0087	0.205	0.20002	T	0.71	0.05525	T	0.011	0.15914	B	0.015	0.17295	B	0.000167	0.48594	D	0.270733	0.999983	0.54805	D	2.12	0.58754	M	-1.41	0.80560	T	-6.6	0.92042	D	0.258	0.29197	-0.4306	0.71047	T	0.384	0.74002	T	10	0.008627355	0.00195	T	0.024234	0.47226	T	0.362	0.68230	.	.	0.416204396243	0.41236	0.8197850407621243	0.81935	0.360878218772	0.37748	0.71268081665	0.68982	T	0.325968	0.69663	T	-0.283188	0.10333	T	-0.172875	0.57180	T	0.0576534892228963	0.06794	T	0.89551	0.63622	D	0.47934437	0.65860	0.48347694	0.70096	0.47934437	0.65861	0.48347694	0.70096	-8.199	0.62419	D	0.09303421256937064	0.06075	0.101	0.17657	B	.	.	3.219975	0.43869	21.8	0.90758231324376637	0.20008	0.91134	0.52927	D	AEFDGBCI	0.578082	0.57943	D	0.0216641723337433	0.42839	2.588929	0.191777639853672	0.49395	3.143227	0.999999985977376	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.62	4.74	0.59717	1.656000	0.36971	4.817000	0.45088	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9287:0.0:0.0713	14.305	0.65932	804	0.43891	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1205.98	35	chr18	2920363	.	C	A	1205.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.768e+00;DP=860;ExcessHet=0.0000;FS=3.880;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.31;ReadPosRankSum=-2.740e-01;SOR=0.365	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,103,1226	20	0	1	0
chr18	2937701	2937701	T	C	exonic	LPIN2	.	nonsynonymous SNV	LPIN2:NM_001375808:exon7:c.A1159G:p.K387E	Majeed syndrome	.	0	1479	38	5	0	48	0.0159681	.	.	103705	not_specified|not_provided|Autoinflammatory_syndrome|Psoriasis|Majeed_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0005083,MedGen:C0033860,OMIM:PS177900|MONDO:MONDO:0012316,MedGen:C1864997,OMIM:609628,Orphanet:77297	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.45	T	0.469	P	0.169	B	0.000	D	1.000	D	2.175	M	-1.46	T	-0.324	T	0.429	T	0.883	3.639	18.51	5.74	2.193	5.006	14.621	0.525	.	0.0006	0.00678914	0.0043	0.0001	0.0009	0	0	0.0012	0.0056	0.0257	0.003771	583	154602	rs104895501	0.0023	0.0023	0.0016	0.0031	0.0260	0.0023	0.0022	0.0251	0.0247	0.0003	0.0013	0.0002	5.038e-05	9.37e-05	0.0095	0.0008	0.0025	0.0260	0.0017	0.0017	0.0012	0.0023	0.0295	0.0016	0.0015	0.0255	0.0240	0.0001	0	0.0016	0.0003	0	9.423e-05	0.0034	0.0012	0.0033	0.0295	0.106	0.29688	T	0.365	0.16717	T	0.469	0.36524	P	0.169	0.35248	B	0.000000	0.84330	D	0.042032	0.999997	0.58761	D	2.455	0.71248	M	-1.46	0.80983	T	-2.09	0.47683	N	0.513	0.54409	-0.3239	0.74313	T	0.429	0.77147	T	10	0.008249849	0.00187	T	.	.	.	0.525	0.79886	.	.	0.655422639558	0.65255	0.4558067673782812	0.45498	0.476885664701	0.46806	0.49358445406	0.37935	T	0.096917	0.39921	T	-0.00843234	0.50486	T	0.234708	0.84894	D	0.0146289846892014	0.00302	T	0.927307	0.73215	D	0.23034674	0.45788	0.22966772	0.48045	0.23515597	0.46347	0.27323538	0.53240	-5.471	0.41596	T	0.3718643203656596	0.46728	0.601	0.68900	P	.	.	3.146632	0.42582	21.6	0.99700605470064441	0.80591	0.99098	0.91196	D	AEFBI	0.605472	0.59617	D	0.21220550750028	0.51791	3.357567	0.319439671550726	0.56681	3.831987	0.999999995646822	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	5.225000	0.65124	6.120000	0.53774	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0:0.0:0.0:1.0	14.621	0.68184	741	0.52966	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	1479.11	36	chr18	2937701	.	T	C	1479.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.46;DP=775;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.94;ReadPosRankSum=0.379;SOR=0.754	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1108	19	0	2	0
chr18	2937817	2937817	G	A	exonic	LPIN2	.	nonsynonymous SNV	LPIN2:NM_001375808:exon7:c.C1043T:p.P348L	Majeed syndrome	YES	0	1501	21	0	0	21	0.00694674	.	.	34370	not_provided|Majeed_syndrome|Autoinflammatory_syndrome	MedGen:C3661900|MONDO:MONDO:0012316,MedGen:C1864997,OMIM:609628,Orphanet:77297|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.18	T	0.0	B	0.001	B	0.018	N	1.000	N	1.435	L	-1.37	T	-0.746	T	0.341	T	0.71	1.782	11.92	2.87	0.304	3.107	9.471	0.471	0.0472440006302	0.0005	0.00119808	0.0015	9.61e-05	0.0005	0	0.0002	0.0013	0.0055	0.0050	0.0013713	212	154602	rs34676691	0.0010	0.0010	0.0008	0.0012	0.0071	0.0010	0.0010	0.0054	0.0048	8.961e-05	0.0006	0.0008	2.519e-05	5.616e-05	0.0071	0.0008	0.0010	0.0047	0.0007	0.0007	0.0008	0.0007	0.0039	0.0006	0.0006	0.0026	0.0021	0.0001	0	0.0005	0.0003	0	0	0.0102	0.0011	0.0024	0.0039	0.041	0.41915	D	0.191	0.28391	T	0.0	0.02946	B	0.001	0.04355	B	0.018035	0.27579	N	0.468640	1	0.08975	N	1.155	0.29575	L	-1.37	0.80214	T	-2.84	0.59873	D	0.163	0.17140	-0.7457	0.58159	T	0.341	0.70705	T	10	0.004683107	0.00098	T	0.047244	0.62833	D	0.471	0.76487	.	.	0.85556397381	0.85417	0.17955191147053634	0.17874	0.241005714091	0.26633	0.281983017921	0.07770	T	0.110259	0.42481	T	-0.201526	0.20586	T	-0.0619887	0.66193	T	0.0102228690827515	0.00139	T	0.730127	0.34567	T	0.05918796	0.11998	0.071224615	0.15228	0.056861125	0.11242	0.0612654	0.11800	-3.842	0.21433	T	0.103693821679052	0.08027	0.065	0.02012	B	.	.	2.156294	0.27469	17.47	0.69125950093582156	0.08873	0.66719	0.33176	D	AEFBI	0.079139	0.15979	N	-0.473775513693229	0.22942	1.228571	-0.419826692497712	0.24416	1.336864	0.997207291581435	0.35373	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.74	2.87	0.32523	2.408000	0.44227	4.225000	0.42617	0.676000	0.76740	0.191000	0.24200	0.998000	0.33993	0.745000	0.35611	0.0715:0.2706:0.6579:0.0	9.471	0.38007	741	0.52966	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1332.98	36	chr18	2937817	.	G	A	1332.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.66;DP=833;ExcessHet=0.0000;FS=3.741;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.33;ReadPosRankSum=-1.480e-01;SOR=1.079	GT:AD:DP:GQ:PL	0/1:51,49:100:99:1347,0,1243	20	0	1	0
chr18	2940695	2940695	G	A	exonic	LPIN2	.	nonsynonymous SNV	LPIN2:NM_001375808:exon5:c.C608T:p.S203F	Majeed syndrome	.	0	1505	16	1	0	18	0.00594452	.	.	232058	LPIN2-related_disorder|Majeed_syndrome|not_provided|Autoinflammatory_syndrome	.|MONDO:MONDO:0012316,MedGen:C1864997,OMIM:609628,Orphanet:77297|MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.12	T	0.579	P	0.149	B	0.009	N	0.999	D	2.34	M	-1.49	T	-0.162	T	0.445	T	0.242	2.907	15.69	4.72	1.367	6.115	16.029	0.350	.	7.7e-05	0.00838658	0.0043	0.0003	0.0002	0.0001	0	0	0.0022	0.0310	0.0037192	575	154602	rs144555528	0.0018	0.0018	0.0010	0.0026	0.0293	0.0018	0.0017	0.0284	0.0280	8.982e-05	2.237e-05	0	2.524e-05	0	0.0009	8.123e-06	0.0018	0.0293	0.0012	0.0012	0.0006	0.0017	0.0358	0.0010	0.0010	0.0315	0.0298	0.0001	0	0	0	0	0	0	0	0.0009	0.0358	0.273	0.15876	T	0.484	0.11760	T	0.579	0.38789	P	0.149	0.34106	B	0.008753	0.30686	N	0.396200	0.999295	0.46578	D	2.6	0.76081	M	-1.49	0.81235	T	-0.09	0.08340	N	0.345	0.38643	-0.1622	0.78617	T	0.445	0.78142	T	10	0.004179597	0.00083	T	.	.	.	0.350	0.67142	.	.	0.386522206555	0.38262	0.12012611072688395	0.11939	0.344818283025	0.36407	0.546002864838	0.45293	T	0.118473	0.43932	T	-0.314475	0.07359	T	-0.202185	0.54439	T	0.0578471605200624	0.06824	T	0.90371	0.70348	D	0.13882445	0.32092	0.1188448	0.28687	0.118005805	0.27810	0.11826	0.28545	-5.433	0.41236	T	0.3195091667922497	0.41762	0.091	0.12985	B	.;.	.;.	3.888708	0.56570	23.7	0.9935109246527104	0.60574	0.98273	0.81149	D	AEFBI	0.557014	0.56682	D	0.312169428483231	0.56773	3.842598	0.382658397834628	0.60497	4.237817	0.999997065642109	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.6	4.72	0.59248	6.838000	0.75152	11.782000	0.96139	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.8647:0.1353	16.029	0.80362	747	0.52260	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1603.98	34	chr18	2940695	.	G	A	1603.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.640e-01;DP=837;ExcessHet=0.0000;FS=0.619;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=-9.300e-01;SOR=0.604	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1257	20	0	1	0
chr18	3119949	3119949	G	A	exonic	MYOM1	.	nonsynonymous SNV	MYOM1:NM_019856:exon19:c.C2750T:p.A917V	.	.	428	1091	3	0	0	3	0.001373	.	.	402753	Cardiovascular_phenotype|not_specified|Hypertrophic_cardiomyopathy	MedGen:CN230736|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.605	H	-0.34	T	0.444	D	0.618	D	0.951	5.706	36	5.3	2.763	9.652	19.157	0.808	.	.	0.00658946	0.0041	0	0.0003	0	0	0	0.0032	0.0265	0.0026132	404	154602	rs557671408	0.0012	0.0012	0.0007	0.0017	0.0196	0.0012	0.0011	0.0189	0.0186	2.991e-05	2.271e-05	0	2.525e-05	0	0.0011	3.603e-06	0.0012	0.0196	0.0007	0.0007	0.0004	0.0012	0.0228	0.0006	0.0006	0.0193	0.0181	2.406e-05	0	6.539e-05	0	0	0	0	0	0.0009	0.0228	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.11	0.97368	H	-0.34	0.68474	T	-3.91	0.73042	D	0.952	0.96072	0.444	0.89745	D	0.618	0.86514	D	10	0.011919409	0.00259	T	.	.	.	0.808	0.93777	0.771	0.89767	0.940705301995	0.94009	0.911872829564472	0.91161	0.620939749653	0.56394	0.520721197128	0.41728	T	0.246501	0.61598	T	0.0575577	0.59305	T	0.326821	0.89375	D	0.221056108702093	0.21516	T	0.973803	0.91007	D	0.9641934	0.97699	0.9087644	0.95600	0.9612137	0.97403	0.92386407	0.96670	-12.838	0.88938	D	0.6697714128045205	0.74455	0.823	0.78403	P	.;.;.	.;.;.	4.759443	0.76940	26.6	0.99940444594379352	0.99767	0.86925	0.46317	D	AEFGBHCI	0.951964	0.96699	D	1.04523263843194	0.96977	15.40776	0.968129970108512	0.97909	17.01246	1.0	0.98316	0.638212	0.43195	0	0.670034	0.63936	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.3	5.3	0.74745	9.770000	0.98154	9.663000	0.81199	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	19.157	0.93499	876	0.30350	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1435.98	36	chr18	3119949	.	G	A	1435.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.363e+00;DP=799;ExcessHet=0.0000;FS=2.949;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.78;ReadPosRankSum=-1.981e+00;SOR=0.519	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	20	0	1	0
chr18	3134813	3134813	C	G	exonic	MYOM1	.	nonsynonymous SNV	MYOM1:NM_003803:exon16:c.G2221C:p.A741P	.	.	.	.	.	.	.	.	.	.	.	469707	Hypertrophic_cardiomyopathy	Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.56	T	0.007	B	0.047	B	0.067	N	0.855	N	0.245	N	0.26	T	-0.990	T	0.125	T	0.089	0.569	7.076	-3.02	-0.931	0.032	28.919	0.157	.	.	0.00199681	0.0005	0	0	0	0	0	0.0011	0.0037	0.0004657	72	154602	rs546357155	0.0001	0.0001	0.0001	0.0002	0.0022	0.0001	0.0001	0.0020	0.0019	0	0	0	0	0	0.0002	1.799e-06	0.0004	0.0022	7.881e-05	7.876e-05	7.712e-05	8.058e-05	0.0025	4.495e-05	3.511e-05	0.0014	0.0011	0	0	0	0	0	0	0	0	0	0.0025	0.686	0.61437	T	0.23	0.25135	T	0.005	0.14184	B	0.047	0.24832	B	0.067216	0.21757	N	0.536295	0.854837	0.28443	N	0.37	0.12060	N	0.26	0.59717	T	-1.46	0.70432	N	0.25	0.28264	-0.9895	0.32727	T	0.125	0.43028	T	10	0.010400057	0.00232	T	.	.	.	0.157	0.40909	0.66	0.79791	0.409124616982	0.40530	0.5440596122743213	0.54331	0.208088668149	0.23278	0.362997800112	0.19822	T	0.049566	0.28344	T	-0.339086	0.05452	T	-0.555722	0.16781	T	0.0075053666052634	0.00087	T	0.827517	0.50161	T	0.23450685	0.46272	0.27043438	0.52935	0.1769359	0.38632	0.29394636	0.55422	-2.831	0.21388	T	0.10750492269671637	0.08758	0.231	0.46331	B	.;.;.	.;.;.	1.034015	0.14140	10.72	0.61560115668723969	0.06739	0.12519	0.17318	N	AEFBI	0.206121	0.33241	N	-1.06687642960823	0.07261	0.3367342	-1.04134680438322	0.08888	0.4392714	0.0466935118514958	0.14700	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.68	-3.02	0.05116	0.052000	0.14046	0.168000	0.15485	0.596000	0.33519	0.120000	0.23175	0.768000	0.26677	0.967000	0.53440	0.0:0.1841:0.8159:0.0	28.919	0.99999	872	0.31118	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2451.98	36	chr18	3134813	.	C	G	2451.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.459;DP=961;ExcessHet=0.0000;FS=1.216;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.01;ReadPosRankSum=0.623;SOR=0.592	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr18	3188929	3188929	G	A	exonic	MYOM1	.	nonsynonymous SNV	MYOM1:NM_003803:exon4:c.C590T:p.T197M	.	.	428	1058	35	1	0	37	0.0171853	.	.	230889	Hypertrophic_cardiomyopathy|not_specified	Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.726	P	0.202	B	0.216	N	1.000	N	0	N	0.9	T	-1.084	T	0.043	T	0.091	-0.026	3.881	-1.56	-0.921	-1.746	4.442	0.021	.	0.0006	0.00379393	0.0025	0.0001	0.0005	0	0.0002	0.0011	0.0033	0.0130	0.0021669	335	154602	rs142735495	0.0014	0.0014	0.0010	0.0018	0.0131	0.0014	0.0013	0.0125	0.0122	6.011e-05	0.0006	0.0047	2.519e-05	0.0002	0.0069	0.0006	0.0020	0.0131	0.0010	0.0010	0.0007	0.0012	0.0136	0.0008	0.0008	0.0109	0.0100	9.728e-05	0	0.0013	0.0017	0	0	0.0102	0.0006	0.0029	0.0136	0.251	0.22138	T	0.107	0.38016	T	0.396	0.42471	B	0.055	0.36942	B	0.215705	0.03418	N	2.814250	1	0.08975	N	0	0.06538	N	0.89	0.50976	T	0.51	0.02898	N	0.078	0.10340	-1.0844	0.06517	T	0.043	0.18285	T	10	0.0035447478	0.00064	T	.	.	.	0.021	0.04004	.	.	0.35139820857	0.34749	0.1561886216387074	0.15539	0.143767449936	0.16234	0.231919467449	0.02114	T	0.015219	0.12811	T	-0.648357	0.00074	T	-0.693066	0.06213	T	0.0103052720743745	0.00140	T	0.444256	0.21082	T	0.01401323	0.00077	0.03353223	0.02263	0.013964177	0.00075	0.032004338	0.01871	-8.61	0.65313	D	.	.	0.252	0.52401	B	.;.;.	.;.;.	-0.279013	0.02711	0.355	0.67436098881155082	0.08354	0.00836	0.03355	N	AEFGBI	0.050213	0.08755	N	-1.69927224167309	0.00845	0.03652483	-1.8031923915074	0.00749	0.03338637	0.971880573309902	0.29324	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	2.23	-1.56	0.08080	-1.165000	0.03242	-0.665000	0.07962	-3.406000	0.00088	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.3322:0.1804:0.4874:0.0	4.442	0.11002	870	0.31527	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.04762	7207.11	245	chr18	3188929	.	G	A	7207.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.06;DP=1691;ExcessHet=0.1072;FS=0.522;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=0.302;SOR=0.760	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	19	0	2	0
chr18	3729160	3729162	GGT	-	exonic	DLGAP1	.	nonframeshift deletion	DLGAP1:NM_001003809:exon4:c.658_660del:p.T220del	.	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0051	0.000798722	0.0004	0	8.973e-05	0	0	0.0003	0	0.0015	0.0003558	55	154602	rs560690735	0.0003	0.0003	0.0002	0.0003	0.0018	0.0002	0.0002	0.0015	0.0014	0	6.715e-05	0	0	3.788e-05	0.0016	0.0002	0.0004	0.0018	0.0002	0.0002	0.0002	0.0001	0.0008	0.0001	9.695e-05	0.0003	0.0002	7.216e-05	0	6.533e-05	0	0	0	0	0.0002	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	786.94	33	chr18	3729159	.	CGGT	C	786.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.744;DP=749;ExcessHet=0.0000;FS=1.170;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.39;ReadPosRankSum=0.535;SOR=0.895	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr18	5397378	5397378	C	T	exonic	EPB41L3	.	nonsynonymous SNV	EPB41L3:NM_001281534:exon15:c.G1855A:p.V619M	.	.	423	1064	18	2	15	37	0.0102326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.389	B	0.057	B	0.278	N	1.000	N	0	N	-0.08	T	-0.837	T	0.186	T	0.113	0.439	6.386	-1.73	-0.181	0.266	3.865	0.063	.	0.0028	0.00279553	0.0031	0.0008	0.0010	0.0001	0.0009	0.0027	0.0077	0.0101	0.0029495	456	154602	rs151294672	0.0030	0.0030	0.0028	0.0032	0.0095	0.0029	0.0029	0.0090	0.0088	0.0007	0.0011	0.0002	5.038e-05	0.0011	0.0071	0.0029	0.0033	0.0095	0.0021	0.0021	0.0020	0.0023	0.0100	0.0019	0.0018	0.0077	0.0069	0.0007	0	0.0024	0.0003	0.0002	0.0007	0	0.0028	0.0038	0.0100	0.184	0.28646	T	0.117	0.37037	T	0.005	0.34565	B	0.007	0.26280	B	0.277681	0.03813	N	1.418160	1	0.08975	N	0.345	0.11182	N	-1.58	0.82625	D	-0.09	0.15578	N	0.079	0.09066	-0.8374	0.52819	T	0.186	0.53571	T	10	0.0035730302	0.00065	T	.	.	.	0.063	0.18251	.	.	0.395894371353	0.39203	0.1363486234322469	0.13558	0.199788861361	0.22381	0.2263084203	0.01706	T	0.092904	0.39101	T	-0.469966	0.00850	T	-0.439889	0.28820	T	0.00345775614129726	0.00036	T	0.727427	0.35200	T	0.024089763	0.01207	0.03984452	0.04170	0.024089763	0.01207	0.03984452	0.04170	-5.785	0.46154	T	.	.	0.072	0.06205	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.633611	0.10018	6.773	0.94905328760467222	0.25761	0.12905	0.17550	N	AEFBI	0.162373	0.28854	N	-1.216821364556	0.04755	0.2153067	-1.20732467731098	0.05792	0.276942	0.801029181660734	0.24186	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.94	-1.73	0.07646	0.326000	0.19391	1.562000	0.27363	-0.847000	0.02749	0.138000	0.23473	0.996000	0.32793	0.000000	0.00833	0.204:0.2944:0.4097:0.0919	3.865	0.08518	769	0.49307	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1061.98	35	chr18	5397378	.	C	T	1061.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.446;DP=759;ExcessHet=0.0000;FS=5.513;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.70;ReadPosRankSum=0.586;SOR=1.483	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1439	20	0	1	0
chr18	5415888	5415888	T	G	exonic	EPB41L3	.	nonsynonymous SNV	EPB41L3:NM_001384685:exon13:c.A2051C:p.Y684S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.895	P	0.502	P	0.001	D	1.000	D	0.895	L	-2.06	D	-0.357	T	0.427	T	0.721	2.858	15.52	3.04	0.341	2.808	7.935	0.618	0.052227902183	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1439944194	2.737e-06	2.736e-06	2.723e-06	2.751e-06	0.0002	6.4e-07	4.3e-07	.	.	0	0	0	0	0	0.0002	8.993e-07	1.657e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.041	0.50514	D	0.895	0.49247	P	0.502	0.47702	P	0.000996	0.40743	D	0.166519	0.99999	0.81001	D	2.175	0.60977	M	-2.06	0.85875	D	-2.23	0.50012	N	0.619	0.63459	-0.3575	0.73336	T	0.427	0.77002	T	10	0.57266027	0.65405	D	0.052228	0.64984	D	0.618	0.85144	0.6	0.73105	0.894121766158	0.89307	0.7652202361605717	0.76471	0.363663983973	0.37991	0.704193472862	0.67751	T	0.278315	0.65097	T	0.205666	0.74422	D	0.0576479	0.74088	D	0.884654223918915	0.53491	D	0.859714	0.55187	D	0.34237137	0.56467	0.38776368	0.63637	0.34237137	0.56467	0.38776368	0.63637	-0.786	0.00791	T	.	.	0.592	0.68540	P	.	.	3.410080	0.47304	22.4	0.96909516925145123	0.31570	0.95888	0.66586	D	AEFGBI	0.768623	0.70413	D	0.119303238698462	0.47363	2.963104	0.158387136801594	0.47588	2.986797	0.999563024500655	0.40425	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	5.52	3.04	0.34171	2.790000	0.47512	4.236000	0.42680	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1221:0.0676:0.0:0.8103	7.935	0.29085	818	0.41518	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	955.98	34	chr18	5415888	.	T	G	955.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=775;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.86;ReadPosRankSum=1.54;SOR=0.663	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1164	20	0	1	0
chr18	5419844	5419844	C	T	exonic	EPB41L3	.	nonsynonymous SNV	EPB41L3:NM_001281533:exon12:c.G1427A:p.G476D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.998	D	0.941	D	0.102	N	1.000	D	2.175	M	-1.47	T	0.068	D	0.632	D	0.818	1.995	12.63	3.82	0.827	2.817	11.354	0.581	0.091388410116	.	.	.	.	.	.	.	.	.	.	.	.	.	rs761821278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.63226	D	0.123	0.35582	T	0.756	0.43409	P	0.303	0.41149	B	0.101612	0.19831	N	0.559941	0.99995	0.53665	D	2.77	0.80896	M	-1.63	0.88066	D	-2.24	0.50175	N	0.671	0.67908	0.068	0.83587	D	0.632	0.87110	D	10	0.48991218	0.60930	T	0.091388	0.75697	D	0.581	0.83137	0.295	0.25881	0.868670719821	0.86739	0.5581323701027207	0.55740	0.739457674678	0.63167	0.812882006168	0.83934	D	0.15273	0.49326	T	0.274412	0.80831	D	0.156397	0.80584	D	0.792889535427094	0.45879	D	0.960604	0.85735	D	0.20499112	0.42626	0.24188542	0.49597	0.20499112	0.42626	0.24188542	0.49595	-14.574	0.94773	D	.	.	0.554	0.77907	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.117507	0.61514	24.3	0.9912732738807889	0.53169	0.82639	0.41839	D	AEFBI	0.377409	0.46119	N	-0.0374620760541655	0.40165	2.38062	-0.0512259016342011	0.37437	2.191982	0.999712599983291	0.42101	0.706548	0.73137	0	0.563428	0.19063	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.61	3.82	0.43153	3.060000	0.49648	5.995000	0.52393	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.1266:0.8073:0.0:0.0662	11.354	0.48841	828	0.39726	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	521.98	34	chr18	5419844	.	C	T	521.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.035e+00;DP=760;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.49;ReadPosRankSum=-1.779e+00;SOR=0.809	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	20	0	1	0
chr18	5891375	5891386	GCGGCGGCGGCC	-	exonic	TMEM200C	.	nonframeshift deletion	TMEM200C:NM_001080209:exon3:c.678_689del:p.A227_A230del,	.	.	410	1039	39	3	31	76	0.0211964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0140	0	0	0	0	0.0020	0.0294	0.0172	3.23e-05	5	154602	rs753396480	0.0064	0.0057	0.0055	0.0074	0.0577	0.0063	0.0062	0.0557	0.0549	0.0040	0.0115	0.0032	0.0109	0.0028	0.0093	0.0044	0.0069	0.0577	0.0048	0.0048	0.0042	0.0055	0.0319	0.0045	0.0044	0.0277	0.0262	0.0031	0	0.0034	0.0021	0.0078	0.0032	0.0106	0.0046	0.0039	0.0319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1120.07	35	chr18	5891374	.	GGCGGCGGCGGCC	G	1120.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.73;DP=747;ExcessHet=0.1072;FS=27.441;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=24.89;ReadPosRankSum=0.834;SOR=1.502	GT:AD:DP:GQ:PL	0/1:9,11:20:99:435,0,323	19	0	2	0
chr18	5891639	5891639	G	A	exonic	TMEM200C	.	nonsynonymous SNV	TMEM200C:NM_001080209:exon3:c.C425T:p.P142L,	.	.	174	1347	1	0	0	1	0.000371058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.1	B	0.028	B	0.917	N	1.000	N	0	N	.	.	-1.013	T	0.049	T	0.061	0.378	6.054	2.05	0.403	0.837	7.555	0.027	0.0120530318721	.	0.000599042	0.0003	0	0	0	0	0	0	0.0020	0.0002329	36	154602	rs557850782	0.0001	0.0001	5.991e-05	0.0002	0.0017	9.808e-05	9.223e-05	0.0014	0.0014	2.987e-05	0	0	0	0	0.0003	7.196e-06	0.0002	0.0017	5.255e-05	5.249e-05	2.571e-05	8.061e-05	0.0014	2.557e-05	1.83e-05	0.0007	0.0005	2.407e-05	0	0	0	0	0	0	0	0	0.0014	0.047	0.40319	D	0.019	0.59159	D	0.1	0.25713	B	0.028	0.21332	B	0.916664	0.07450	N	1.044460	1	0.08975	N	1.39	0.34934	L	.	.	.	-2.27	0.50666	N	0.07	0.12913	-1.0134	0.25848	T	0.049	0.20711	T	9	0.0071727037	0.00163	T	0.012053	0.30270	T	0.027	0.05988	0.347	0.34274	0.110078149338	0.10416	0.608271343251214	0.60759	.	.	0.442171126604	0.30873	T	0.008112	0.07462	T	-0.547912	0.00300	T	-0.578829	0.14650	T	0.016599787707992	0.00421	T	0.530047	0.17581	T	0.05813361	0.11658	0.078810215	0.17684	0.05813361	0.11657	0.078810215	0.17684	-5.002	0.36861	T	.	.	0.120	0.24666	B	.;.	.;.	2.063007	0.26232	17.04	0.97312670728358919	0.33337	0.24693	0.22472	N	AEFDGBCI	0.196175	0.32317	N	-0.941682691222677	0.09881	0.4696229	-0.94798153812883	0.10970	0.555981	0.999950675411126	0.48110	0.72623	0.87236	0	0.563428	0.19063	0	0.594344	0.31042	0	0.620976	0.48614	0	.	.	3.88	2.05	0.25860	1.375000	0.33900	4.867000	0.45528	0.613000	0.49114	0.003000	0.16062	0.992000	0.31684	0.027000	0.12703	0.0907:0.1659:0.7434:0.0	7.555	0.26986	981	0.03995	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2087.98	38	chr18	5891639	.	G	A	2087.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.35;DP=988;ExcessHet=0.0000;FS=1.212;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=1.40;SOR=0.591	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr18	6032198	6032198	T	C	exonic	L3MBTL4	.	nonsynonymous SNV	L3MBTL4:NM_001365767:exon17:c.A1522G:p.K508E,	.	.	576	945	1	0	0	1	0.000528821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	.	.	2.97	T	-0.991	T	0.025	T	0.037	-1.349	0.029	-0.245	-1.193	-0.918	.	0.025	.	.	.	0.02	0	.	0	.	0	.	0.0312	7.12e-05	11	154602	rs757189036	0.0004	0.0003	0.0003	0.0006	0.0046	0.0004	0.0003	0.0035	0.0032	0	0	0	0	0	0.0013	0.0002	0.0007	0.0046	0.0003	0.0003	0.0002	0.0003	0.0033	0.0002	0.0002	0.0021	0.0017	9.687e-05	0	0.0002	0	0	9.506e-05	0	0.0002	0.0024	0.0033	0.024	0.47745	D	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.97	0.09450	T	-0.42	0.14193	N	0.05	0.02179	-0.9907	0.32424	T	0.025	0.10553	T	5	0.004698217	0.00099	T	.	.	.	0.025	0.05312	0.319	0.29741	0.101711395817	0.09552	.	.	.	.	.	.	.	.	.	.	-0.743923	0.00019	T	-0.843476	0.01048	T	0.0155994012005026	0.00356	T	0.379762	0.09155	T	.	.	.	.	.	.	.	.	-3.344	0.14311	T	.	.	0.117	0.23709	B	.	.	0.188871	0.05752	2.197	0.19178078910746202	0.00636	0.00109	0.00694	N	AEFI	0.031167	0.03277	N	-1.12984368217638	0.06118	0.2807782	-1.37626770303332	0.03506	0.1637023	2.45960160297604E-4	0.06141	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.122	-0.245	0.12384	-0.699000	0.05188	-0.839000	0.07224	-0.572000	0.04779	0.129000	0.23328	0.019000	0.20708	0.188000	0.21541	.	.	.	988	0.01987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	96.37	24	chr18	6032198	.	T	C	96.37	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.383e+00;DP=365;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0281;MLEAC=1;MLEAF=0.025;MQ=59.08;MQRankSum=0.674;QD=9.64;ReadPosRankSum=0.601;SOR=0.250	GT:AD:DP:GQ:PL	0/0:20,0:20:57:0,57,855	19	0	1	1
chr18	6243386	6243386	C	T	exonic	L3MBTL4	.	nonsynonymous SNV	L3MBTL4:NM_001330559:exon7:c.G368A:p.S123N	.	.	432	1084	6	0	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.081	B	0.089	B	0.000	D	1.000	D	0.075	N	0.95	T	-1.097	T	0.050	T	0.066	3.923	19.96	2.84	0.678	2.640	6.392	0.051	0.00535357757019	0.0024	0.000599042	0.0019	0.0002	0.0003	0	0.0012	0.0032	0.0011	0	0.0019017	294	154602	rs142238955	0.0023	0.0023	0.0023	0.0023	0.0028	0.0022	0.0022	0.0027	0.0027	0.0004	0.0009	7.663e-05	0	0.0017	0.0009	0.0028	0.0021	0	0.0020	0.0020	0.0020	0.0020	0.0034	0.0018	0.0018	0.0030	0.0029	0.0002	0.0175	0.0026	0.0003	0	0.0009	0	0.0034	0.0009	0	0.015	0.55530	D	0.08	0.41913	T	0.081	0.24602	B	0.089	0.29769	B	0.000422	0.44522	D	0.175203	0.789113	0.34363	D	0.105	0.08473	N	0.95	0.44065	T	-0.04	0.08033	N	0.212	0.23758	-1.0968	0.04501	T	0.050	0.21182	T	10	0.008725077	0.00198	T	0.005354	0.13710	T	0.051	0.14325	.	.	0.265929055128	0.26215	0.14710990191635787	0.14632	.	.	0.40081512928	0.25182	T	0.019938	0.15791	T	-0.600036	0.00146	T	-0.632491	0.10227	T	0.0267581857169319	0.01511	T	0.914109	0.69569	D	0.10981217	0.25960	0.09397218	0.22222	0.10981217	0.25960	0.09397218	0.22221	-4.02	0.26068	T	.	.	0.301	0.53095	B	.;.;.;.	.;.;.;.	4.363629	0.67123	25.1	0.99179921223754441	0.54643	0.45702	0.27597	N	AEFBI	0.106003	0.21164	N	-0.425942932818374	0.24563	1.327161	-0.251307675870213	0.29725	1.667791	0.00101359891349202	0.08126	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.63	2.84	0.32241	2.375000	0.43938	3.161000	0.36568	0.549000	0.26987	0.978000	0.35038	1.000000	0.68203	0.999000	0.91618	0.0:0.6991:0.0:0.3009	6.392	0.20794	930	0.16408	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	985.98	34	chr18	6243386	.	C	T	985.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.000e-03;DP=787;ExcessHet=0.0000;FS=1.901;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=0.252;SOR=0.460	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1055	20	0	1	0
chr18	6890539	6890539	G	T	exonic	ARHGAP28	.	nonsynonymous SNV	ARHGAP28:NM_001010000:exon13:c.G1367T:p.R456L	.	.	435	1062	25	0	0	25	0.0116333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.992	D	0.001	N	1.000	D	2.365	M	3.12	T	-1.099	T	0.094	T	0.903	3.432	17.61	5.08	2.793	3.704	17.769	0.263	.	0.0013	0.00878594	0.0063	0.0004	0.0013	0.0189	0	0.0015	0.0012	0.0324	0.0053816	832	154602	rs74414891	0.0033	0.0034	0.0026	0.0041	0.0255	0.0032	0.0032	0.0246	0.0243	0.0004	0.0010	0.0038	0.0199	5.637e-05	0.0139	0.0013	0.0038	0.0255	0.0024	0.0024	0.0021	0.0026	0.0249	0.0022	0.0021	0.0213	0.0199	0.0004	0	0.0015	0.0035	0.0168	0	0.0068	0.0014	0.0014	0.0249	0.002	0.72154	D	0.009	0.74150	D	1.0	0.90584	D	0.977	0.80445	D	0.001276	0.39594	N	0.254470	0.999999	0.81001	D	2.845	0.82663	M	3.18	0.10482	T	-4.25	0.81910	D	0.603	0.65501	-1.0987	0.04252	T	0.094	0.35551	T	10	0.0055380464	0.00122	T	.	.	.	0.263	0.57612	.	.	0.511220899679	0.50763	0.4944415560464715	0.49365	0.768272729556	0.64638	0.456587791443	0.32844	T	0.198741	0.55581	T	-0.144411	0.29190	T	0.0393842	0.72888	D	0.0497714532028	0.05461	T	0.881612	0.60617	D	0.25142154	0.48151	0.20026965	0.43949	0.25142154	0.48150	0.20026965	0.43948	-5.582	0.47166	T	.	.	0.369	0.60693	A	.;.;.;.;.;.	.;.;.;.;.;.	4.280408	0.65203	24.8	0.99800484344759965	0.88550	0.92405	0.55636	D	AEFBI	0.458825	0.50969	N	0.597714771600917	0.73030	5.900242	0.510549642992938	0.68698	5.256236	0.999965057537545	0.48965	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.08	5.08	0.68373	4.878000	0.62786	11.809000	0.96880	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.184000	0.21420	0.0:0.0:1.0:0.0	17.769	0.88395	776	0.48302	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	768.98	42	chr18	6890539	.	G	T	768.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=834;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=-4.260e-01;SOR=0.788	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr18	6997813	6997813	T	C	exonic	LAMA1	.	nonsynonymous SNV	LAMA1:NM_005559:exon33:c.A4735G:p.N1579D,	Poretti-Boltshauser syndrome, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	785971	not_provided|LAMA1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.3	T	1.0	D	0.99	D	0.000	D	1.000	D	2.045	M	2.59	T	-1.109	T	0.090	T	0.196	3.055	16.20	5.36	2.160	5.900	15.640	0.446	0.0225762112817	.	0.000998403	0.0009	0	0	0	0	0	0	0.0067	0.0007503	116	154602	rs542801679	0.0004	0.0004	0.0002	0.0007	0.0069	0.0004	0.0004	0.0064	0.0062	2.987e-05	0	0	0	0	0	2.698e-06	0.0004	0.0069	0.0002	0.0002	7.708e-05	0.0004	0.0066	0.0002	0.0001	0.0048	0.0042	0	0	0	0	0	0	0	0	0.0005	0.0066	0.069	0.35537	T	0.051	0.47828	T	1.0	0.90584	D	0.99	0.78936	D	0.000000	0.84330	D	0.050093	0.999561	0.47592	D	2.535	0.73915	M	2.59	0.13317	T	-4.23	0.75935	D	0.671	0.67908	-1.1088	0.03174	T	0.090	0.34683	T	10	0.033602595	0.01540	T	0.022576	0.45482	T	0.446	0.74797	0.86	0.95774	0.432266382184	0.42845	0.6924408560923319	0.69184	0.573544522474	0.53406	0.556914687157	0.46832	T	0.126021	0.45212	T	-0.525104	0.00411	T	-0.522767	0.20014	T	0.219005546056348	0.21414	T	0.754824	0.37774	T	0.44021535	0.63416	0.41659307	0.65739	0.44021535	0.63417	0.41659307	0.65739	-6.596	0.51022	T	0.6904405708303029	0.76808	0.252	0.48705	B	.	.	4.140848	0.62042	24.4	0.99786600275607229	0.87308	0.94816	0.62428	D	AEFDGBCI	0.713236	0.66610	D	0.516002009681438	0.68037	5.162164	0.455867225649733	0.65094	4.780541	0.999640780561609	0.41316	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	5.36	5.36	0.76624	3.415000	0.52455	5.023000	0.46762	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.319000	0.24947	0.0:0.0:0.0:1.0	15.640	0.76746	862	0.33134	Laminin alpha, domain I	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1432.98	37	chr18	6997813	.	T	C	1432.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.370e-01;DP=842;ExcessHet=0.0000;FS=0.668;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.56;ReadPosRankSum=0.262;SOR=0.640	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1141	20	0	1	0
chr18	7456123	7456123	A	G	exonic	LOC112577592	.	nonsynonymous SNV	LOC112577592:NM_001364581:exon2:c.T329C:p.V110A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186804649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.575e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	37.06	1	chr18	7456123	.	A	G	37.06	.	AC=2;AF=0.083;AN=24;DP=57;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2596;MLEAC=2;MLEAF=0.083;MQ=60.00;QD=18.53;SOR=0.693	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,25	11	1	0	9
chr18	7456192	7456192	C	T	exonic	LOC112577592	.	nonsynonymous SNV	LOC112577592:NM_001364581:exon2:c.G260A:p.G87D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	35.47	1	chr18	7456192	.	C	T	35.47	.	AC=2;AF=0.067;AN=30;DP=57;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.1731;MLEAC=2;MLEAF=0.067;MQ=60.00;QD=17.73;SOR=0.693	GT:AD:DP:GQ:PL	0/0:3,0:3:9:0,9,87	14	1	0	6
chr18	8406158	8406158	G	A	exonic	PTPRM	.	nonsynonymous SNV	PTPRM:NM_001378142:exon27:c.G3716A:p.G1239D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.029	N	1.000	D	0.345	N	1.03	T	-0.702	T	0.199	T	0.954	4.421	23.5	6.17	2.941	7.978	20.879	0.363	0.0178691031955	.	0.000199681	5.782e-05	0	0	0	0	0	0	0.0004	5.17e-05	8	154602	rs549858445	2.668e-05	2.668e-05	1.225e-05	4.126e-05	0.0004	1.998e-05	1.754e-05	0.0003	0.0003	0	0	0	0	0	0	8.994e-07	3.312e-05	0.0004	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	7.299e-05	3.032e-05	0	0	0	0	0	0	0	0	0	0.0004	0.005	0.63226	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.029480	0.25449	N	0.406838	0.999999	0.81001	D	0	0.06538	N	1.1	0.47130	T	-0.34	0.14978	N	0.615	0.67822	-0.7018	0.60352	T	0.199	0.55485	T	10	0.26986283	0.44514	T	0.017869	0.39735	T	0.363	0.68319	0.486	0.56939	0.596260150111	0.59305	0.518378492089904	0.51760	1.55775025529	0.88002	0.799728572369	0.81921	T	0.107307	0.41940	T	0.0219697	0.54647	T	0.104	0.77194	D	0.500490427017212	0.32647	D	0.963004	0.86214	D	0.15261263	0.34635	0.23596421	0.48855	0.10961718	0.25914	0.21200554	0.45651	-2.615	0.07724	T	.	.	0.261	0.49557	B	.;.;.;.	.;.;.;.	4.027578	0.59527	24.1	0.99806236062622022	0.89085	0.98521	0.83668	D	AEFDGBI	0.946232	0.95546	D	0.691448073148872	0.79072	7.001196	0.754082953912859	0.86462	8.896794	0.999999999852879	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.17	6.17	0.99707	8.093000	0.89361	11.837000	0.97708	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.856000	0.40543	0.0:0.0:1.0:0.0	20.879	0.99870	849	0.35778	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1238.98	33	chr18	8406158	.	G	A	1238.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.360e+00;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.32;ReadPosRankSum=1.59;SOR=0.674	GT:AD:DP:GQ:PL	0/1:64,56:120:99:1253,0,1658	20	0	1	0
chr18	8784389	8784389	C	T	exonic	MTCL1	.	nonsynonymous SNV	MTCL1:NM_001378205:exon5:c.C2357T:p.S786L	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	1.0	D	0.965	D	0.001	N	1.000	D	2.4	M	1.38	T	-0.770	T	0.229	T	0.921	1.887	12.27	5.21	2.424	7.520	18.738	0.339	0.0554430523625	0.0010	.	0.0007	9.874e-05	0.0017	0	0.0005	0.0009	0	0.0002	0.0006727	104	154602	rs140267953	0.0011	0.0011	0.0011	0.0011	0.0019	0.0011	0.0010	0.0015	0.0014	0.0002	0.0019	4.891e-05	5.15e-05	0.0001	0.0007	0.0013	0.0012	0.0002	0.0006	0.0006	0.0007	0.0005	0.0009	0.0005	0.0004	0.0007	0.0006	0.0002	0	0.0008	0	0.0002	9.423e-05	0.0034	0.0009	0	0.0008	0.135	0.27426	T	0.286	0.21277	T	1.0	0.90584	D	0.965	0.71173	D	0.001094	0.40303	N	0.000000	1	0.81001	D	2.735	0.79925	M	1.38	0.34050	T	-2.56	0.55339	D	0.638	0.72746	-0.7702	0.56847	T	0.229	0.59447	T	10	0.07476428	0.11469	T	0.055443	0.66237	D	0.339	0.66106	.	.	0.364926071151	0.36103	0.44775024400207414	0.44693	0.4644567247	0.45918	0.595071077347	0.52208	T	0.178772	0.52954	T	-0.0604903	0.42832	T	0.121319	0.78323	D	0.0722034248801623	0.08957	T	0.940106	0.77861	D	0.15805231	0.35579	0.17213811	0.39446	0.15805231	0.35579	0.17213811	0.39446	-11.004	0.79680	D	.	.	0.166	0.52841	B	.;.;.;.	.;.;.;.	4.765192	0.77079	26.6	0.97691090299412864	0.35376	0.96836	0.71202	D	AEFDBCI	0.874945	0.79810	D	0.629603281964807	0.75056	6.238804	0.568050291393372	0.72661	5.845372	1.0	0.98316	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.21	5.21	0.72005	7.607000	0.82085	7.580000	0.60937	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.923000	0.45890	0.0:1.0:0.0:0.0	18.738	0.91728	872	0.31118	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1794.98	75	chr18	8784389	.	C	T	1794.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=1754;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=-5.090e-01;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:100,0:100:99:.:.:0,120,1800	20	0	1	0
chr18	8786033	8786033	G	A	exonic	MTCL1	.	nonsynonymous SNV	MTCL1:NM_001378205:exon6:c.G2909A:p.R970H	.	.	420	1031	66	5	0	76	0.0355472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.05	B	0.015	B	0.326	N	1.000	D	1.445	L	0.71	T	-1.074	T	0.060	T	0.258	1.642	11.45	2.74	0.277	4.366	11.209	0.055	.	0.0049	0.00738818	0.0128	0.0016	0.0385	0.0150	0	0.0098	0.0254	0.0148	0.0082987	1283	154602	rs202096044	0.0076	0.0076	0.0073	0.0079	0.0433	0.0075	0.0075	0.0385	0.0367	0.0028	0.0227	0.0129	0.0136	0.0003	0.0433	0.0067	0.0096	0.0103	0.0068	0.0069	0.0067	0.0070	0.0128	0.0065	0.0063	0.0114	0.0108	0.0021	0.0462	0.0128	0.0130	0.0118	9.482e-05	0.0514	0.0073	0.0157	0.0123	0.18	0.30943	T	0.188	0.37730	T	0.048	0.22112	B	0.015	0.17295	B	0.325834	0.14195	N	0.591474	0.596131	0.81001	D	1.355	0.33814	L	0.71	0.51228	T	-1.8	0.45042	N	0.39	0.43126	-1.0737	0.08619	T	0.060	0.25163	T	10	0.0044347644	0.00091	T	.	.	.	0.055	0.15663	.	.	0.40417439687	0.40030	0.12613992147701064	0.12539	0.128050012963	0.14436	0.463122904301	0.33739	T	0.066765	0.33029	T	-0.46786	0.00877	T	-0.426572	0.30325	T	0.0151532797344599	0.00330	T	0.836316	0.50742	T	0.06137621	0.12703	0.08209207	0.18710	0.06137621	0.12703	0.08209207	0.18709	-3.825	0.25980	T	.	.	0.095	0.20741	B	.;.;.;.	.;.;.;.	3.117161	0.42069	21.5	0.99017006908003979	0.50484	0.93051	0.57203	D	AEFDBCI	0.467063	0.51445	N	-0.413658461604611	0.24990	1.353313	-0.372666341141941	0.25815	1.422005	0.999997622467162	0.74766	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.54	2.74	0.31352	4.533000	0.60328	0.857000	0.22192	0.672000	0.70159	1.000000	0.71638	0.000000	0.08366	0.360000	0.25886	0.2033:0.0:0.7967:0.0	11.209	0.48015	900	0.24599	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	997.11	34	chr18	8786033	.	G	A	997.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.638;DP=747;ExcessHet=0.1072;FS=3.468;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.29;ReadPosRankSum=1.03;SOR=1.203	GT:AD:DP:GQ:PL	0/1:17,13:30:99:361,0,451	19	0	2	0
chr18	9254360	9254362	GAT	-	exonic	ANKRD12	.	nonframeshift deletion	ANKRD12:NM_001083625:exon8:c.1024_1026del:p.D345del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.251e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs767111396	4.796e-06	4.31e-05	6.816e-06	2.755e-06	2.528e-05	2e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	2.528e-05	0	0	4.5e-06	0	1.169e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2338.94	34	chr18	9254359	.	AGAT	A	2338.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.493;DP=858;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.85;ReadPosRankSum=0.076;SOR=0.671	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,117,1755	20	0	1	0
chr18	9254628	9254628	T	C	exonic	ANKRD12	.	nonsynonymous SNV	ANKRD12:NM_001083625:exon8:c.T1292C:p.M431T	.	.	425	1092	5	0	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.93	T	0.0	B	0.0	B	0.418	N	1.000	N	-0.205	N	3.52	T	-0.907	T	0.009	T	0.036	-1.364	0.027	-5.56	-1.058	0.150	16.123	0.082	0.00638985484201	0.0002	.	0.0002	0	0	0	0	0.0003	0	0.0004	0.000194	30	154602	rs150317182	0.0002	0.0002	0.0002	0.0002	0.0039	0.0002	0.0001	0.0026	0.0022	3.134e-05	0.0002	0.0002	0	1.901e-05	0.0039	0.0001	0.0004	0.0003	0.0001	0.0001	0.0001	8.083e-05	0.0002	7.104e-05	5.758e-05	0.0001	0.0001	0	0	0	0.0003	0	9.498e-05	0	0.0002	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.417861	0.04630	N	1.286240	1	0.08975	N	-1.355	0.00654	N	3.52	0.04905	T	1.13	0.01182	N	0.018	0.00571	-0.9071	0.47203	T	0.009	0.03271	T	10	0.008126706	0.00184	T	0.00639	0.16812	T	0.082	0.23913	.	.	0.082315109003	0.07666	0.02471838716508741	0.02422	.	.	0.239306390285	0.02728	T	0.004806	0.04217	T	-0.624253	0.00104	T	-0.825605	0.01342	T	0.0118600594529974	0.00185	T	0.0686931	0.00502	T	0.018711464	0.00393	0.062108982	0.12101	0.018711464	0.00393	0.062108982	0.12100	-2.029	0.03292	T	.	.	0.065	0.02038	B	.;.	.;.	-0.726678	0.01260	0.065	0.6755100598270174	0.08388	0.05497	0.11383	N	AEFBI	0.077174	0.15543	N	-1.55640484492623	0.01498	0.06538341	-1.54106071239801	0.02038	0.09316186	0.976390832363384	0.29721	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.95	-5.56	0.02328	0.163000	0.16338	-0.598000	0.08285	-0.137000	0.12594	0.000000	0.06391	0.000000	0.08366	0.942000	0.48361	0.0:0.5655:0.0:0.4345	16.123	0.81187	356	0.85138	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1665.98	34	chr18	9254628	.	T	C	1665.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.466e+00;DP=836;ExcessHet=0.0000;FS=3.461;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.24;ReadPosRankSum=0.706;SOR=0.421	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,117,1755	20	0	1	0
chr18	9255473	9255473	A	G	exonic	ANKRD12	.	nonsynonymous SNV	ANKRD12:NM_001083625:exon8:c.A2137G:p.T713A	.	.	440	1057	25	0	0	25	0.0116877	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.0	B	0.001	B	0.035	N	1.000	N	-0.145	N	-2.99	D	-0.741	T	0.291	T	0.042	-0.950	0.341	-0.551	-0.263	-0.378	1.711	0.162	.	0.0076	0.00299521	0.0091	0.0024	0.0050	0	0.0080	0.0130	0.0082	0.0056	0.0087062	1346	154602	rs114230285	0.0092	0.0091	0.0094	0.0090	0.0104	0.0090	0.0090	0.0102	0.0102	0.0019	0.0043	0.0050	2.587e-05	0.0059	0.0078	0.0104	0.0082	0.0058	0.0059	0.0059	0.0066	0.0053	0.0099	0.0056	0.0055	0.0092	0.0090	0.0018	0	0.0040	0.0049	0	0.0036	0.0034	0.0099	0.0085	0.0048	0.433	0.09458	T	0.797	0.04142	T	0.0	0.02946	B	0.0	0.04355	B	0.035276	0.24665	N	0.444910	1	0.08975	N	-0.06	0.04898	N	-2.99	0.92108	D	-0.33	0.12472	N	0.074	0.04790	-0.7407	0.58417	T	0.291	0.66288	T	10	0.0035377443	0.00063	T	.	.	.	0.162	0.41843	.	.	0.151262610727	0.14761	0.007321108822763013	0.00698	.	.	0.310919225216	0.12045	T	0.004863	0.04280	T	-0.505411	0.00533	T	-0.48644	0.23764	T	0.000794020032158277	0.00007	T	0.50265	0.15781	T	0.023449413	0.01085	0.015422944	0.00007	0.023449413	0.01085	0.015422944	0.00007	-3.784	0.20834	T	.	.	0.067	0.02428	B	.;.	.;.	-0.456095	0.02011	0.179	0.75694506732214184	0.11175	0.01337	0.04602	N	AEFBI	0.072961	0.14577	N	-1.06985989756284	0.07203	0.3339344	-0.984005802213982	0.10145	0.5090687	0.52689607684772	0.21143	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.95	-0.551	0.11230	-0.562000	0.06041	0.092000	0.14529	-0.113000	0.14837	0.000000	0.06391	0.067000	0.22148	0.970000	0.54328	0.3209:0.1537:0.3752:0.1502	1.711	0.02718	356	0.85138	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	547.98	34	chr18	9255473	.	A	G	547.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=800;ExcessHet=0.0000;FS=2.485;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.66;ReadPosRankSum=-1.060e+00;SOR=0.561	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,117,1755	20	0	1	0
chr18	9256605	9256605	G	A	exonic	ANKRD12	.	nonsynonymous SNV	ANKRD12:NM_001083625:exon8:c.G3269A:p.R1090Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.996	D	0.000	D	1.000	D	2.39	M	-0.47	T	0.150	D	0.557	D	0.542	4.317	22.6	5.23	2.448	7.609	18.804	0.364	0.091573005546	.	.	1.685e-05	0	0	0	0	3.063e-05	0	0	1.29e-05	2	154602	rs757332856	3.035e-05	3.147e-05	2.195e-05	3.885e-05	5.047e-05	2.301e-05	2.049e-05	2.461e-05	2.149e-05	0	0	0	5.047e-05	0	0	3.336e-05	5.013e-05	2.421e-05	1.973e-05	1.97e-05	1.286e-05	2.692e-05	2.941e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	2.415e-05	0	0	0	0	0	0	2.941e-05	0	0	0.012	0.54683	D	0.276	0.21947	T	1.0	0.90584	D	0.992	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.57	0.75187	M	-0.47	0.70133	T	-1.57	0.37955	N	0.648	0.65930	0.150	0.85053	D	0.557	0.83817	D	10	0.5233961	0.62771	D	0.091573	0.75731	D	0.364	0.68407	0.243	0.17677	0.714544253734	0.71204	0.031996254939635635	0.03147	.	.	0.429540157318	0.29145	T	0.206842	0.56631	T	0.0145268	0.53642	T	-0.104419	0.63053	T	0.855139553546906	0.50614	D	0.940206	0.77406	D	0.3623943	0.58018	0.22126174	0.46930	0.3623943	0.58019	0.22126174	0.46929	-1.467	0.01698	T	.	.	0.161	0.51376	B	.;.	.;.	4.521213	0.70884	25.6	0.99953557167309404	0.99963	0.98525	0.83712	D	AEFBHI	0.900351	0.84578	D	0.813573928901739	0.86949	9.05198	0.770350177137905	0.87669	9.302201	0.999999999999218	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.23	5.23	0.72570	7.728000	0.83805	9.969000	0.82849	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	18.804	0.91994	356	0.85138	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	915.98	34	chr18	9256605	.	G	A	915.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.449;DP=804;ExcessHet=0.0000;FS=0.880;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=0.031;SOR=0.552	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1281	20	0	1	0
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	89848.01	520	chr18	9887397	.	C	T,*	89848.01	.	AC=14,15;AF=0.333,0.357;AN=42;BaseQRankSum=1.52;DP=12043;ExcessHet=0.2231;FS=0.000;InbreedingCoeff=0.2202;MLEAC=14,15;MLEAF=0.333,0.357;MQ=59.66;MQRankSum=-1.550e-01;QD=11.05;ReadPosRankSum=-6.600e-02;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:2,330,196:528:99:.:.:16602,7937,9779,9137,0,11954	3	2	4	0
chr18	9887405	9887414	CCAAGGAGGG	0	exonic	TXNDC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3667	1542.09	520	chr18	9887405	.	CCAAGGAGGG	*,C	1542.09	.	AC=10,1;AF=0.333,0.033;AN=30;BaseQRankSum=2.72;DP=11648;ExcessHet=0.0338;FS=0.521;InbreedingCoeff=0.1429;MLEAC=12,1;MLEAF=0.400,0.033;MQ=59.72;MQRankSum=0.286;QD=0.42;ReadPosRankSum=0.423;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:374,196,0:570:99:0|1:9887396_CCA_*:6827,0,13331,8403,14395,25491:9887396	7	3	4	6
chr18	9887406	9887414	CAAGGAGGG	-	exonic	TXNDC2	.	nonframeshift deletion	TXNDC2:NM_001098529:exon2:c.927_935del:p.K310_G312del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.676e-05	1.869e-05	1.541e-05	1.814e-05	5.184e-05	1.006e-05	7.98e-06	7.41e-06	5.4e-06	5.184e-05	0	0	3.629e-05	7.729e-05	0	1.466e-05	0	1.809e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3667	1542.09	520	chr18	9887405	.	CCAAGGAGGG	*,C	1542.09	.	AC=10,1;AF=0.333,0.033;AN=30;BaseQRankSum=2.72;DP=11648;ExcessHet=0.0338;FS=0.521;InbreedingCoeff=0.1429;MLEAC=12,1;MLEAF=0.400,0.033;MQ=59.72;MQRankSum=0.286;QD=0.42;ReadPosRankSum=0.423;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:374,196,0:570:99:0|1:9887396_CCA_*:6827,0,13331,8403,14395,25491:9887396	7	3	4	6
chr18	9887415	9887434	TGACATCCCCAAGTCCCCAG	0	exonic	TXNDC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	1383.0	520	chr18	9887415	.	TGACATCCCCAAGTCCCCAG	*,T	1383.0	.	AC=14,1;AF=0.368,0.026;AN=38;BaseQRankSum=4.88;DP=13456;ExcessHet=0.8717;FS=0.518;InbreedingCoeff=-0.0096;MLEAC=15,1;MLEAF=0.395,0.026;MQ=59.70;MQRankSum=0.190;QD=0.26;ReadPosRankSum=0.247;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:374,196,0:570:99:0|1:9887396_CCA_*:6827,0,13331,8403,14395,25491:9887396	7	3	8	2
chr18	9887416	9887434	GACATCCCCAAGTCCCCAG	-	exonic	TXNDC2	.	frameshift deletion	TXNDC2:NM_001098529:exon2:c.937_955del:p.D313Kfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.788e-06	8.288e-06	8.77e-06	6.777e-06	5.157e-05	3.24e-06	2.08e-06	2.14e-06	1.55e-06	5.157e-05	0	0	3.633e-05	0	0	7.303e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	1383.0	520	chr18	9887415	.	TGACATCCCCAAGTCCCCAG	*,T	1383.0	.	AC=14,1;AF=0.368,0.026;AN=38;BaseQRankSum=4.88;DP=13456;ExcessHet=0.8717;FS=0.518;InbreedingCoeff=-0.0096;MLEAC=15,1;MLEAF=0.395,0.026;MQ=59.70;MQRankSum=0.190;QD=0.26;ReadPosRankSum=0.247;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:374,196,0:570:99:0|1:9887396_CCA_*:6827,0,13331,8403,14395,25491:9887396	7	3	8	2
chr18	9887585	9887585	C	A	exonic	TXNDC2	.	nonsynonymous SNV	TXNDC2:NM_001098529:exon2:c.C1106A:p.P369H	.	.	435	1040	44	3	0	50	0.0234742	.	.	2818210	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.678	P	0.493	P	.	.	0.999	N	1.545	L	2.31	T	-1.083	T	0.038	T	0.245	2.489	14.28	3.07	1.253	0.465	9.931	0.038	0.00513223232431	0.0039	0.00319489	0.0044	0.0017	0.0042	0.0001	0.0002	0.0058	0.0033	0.0041	0.0042302	654	154602	rs141130127	0.0058	0.0058	0.0057	0.0060	0.0265	0.0057	0.0057	0.0230	0.0217	0.0022	0.0055	0.0197	2.672e-05	0.0005	0.0265	0.0061	0.0064	0.0043	0.0042	0.0042	0.0043	0.0041	0.0073	0.0039	0.0038	0.0062	0.0058	0.0015	0	0.0073	0.0216	0	0.0002	0.0136	0.0051	0.0081	0.0031	0.116	0.33923	T	0.001	0.83351	D	0.678	0.41346	P	0.493	0.47443	P	.	.	.	.	1	0.21650	N	2.495	0.72670	M	2.31	0.16794	T	-2.73	0.58085	D	0.173	0.19325	-1.0829	0.06795	T	0.038	0.16290	T	8	0.0044638515	0.00092	T	0.005132	0.13032	T	0.038	0.09825	.	.	0.411265580357	0.40742	0.04906126576242933	0.04849	0.352096120265	0.37045	0.203425049782	0.00563	T	0.111964	0.42786	T	-0.578933	0.00196	T	-0.600228	0.12792	T	0.0595624611979606	0.07099	T	0.550145	0.20478	T	0.06818249	0.14832	0.0785049	0.17588	0.06818249	0.14832	0.0785049	0.17588	-8.706	0.65830	D	.	.	0.150	0.33273	B	.;.;.	.;.;.	1.264036	0.16619	12.66	0.98898081538977922	0.48127	0.16144	0.19251	N	AEFBI	0.048095	0.08171	N	-0.424347102371954	0.24619	1.330544	-0.569536476959241	0.20289	1.09245	0.999978513951005	0.50053	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.94	3.07	0.34476	0.512000	0.22461	-2.538000	0.03633	-0.819000	0.02980	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.8969:0.0:0.1031	9.931	0.40690	885	0.28214	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	14253.11	176	chr18	9887585	.	C	A	14253.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.095;DP=4256;ExcessHet=0.1072;FS=1.105;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.92;MQRankSum=1.88;QD=10.74;ReadPosRankSum=2.37;SOR=0.599	GT:AD:DP:GQ:PL	0/0:187,0:187:99:0,120,1800	19	0	2	0
chr18	10759509	10759509	C	T	exonic	PIEZO2	.	nonsynonymous SNV	PIEZO2:NM_022068:exon24:c.G3655A:p.V1219M	Arthrogryposis, distal, type 3, Autosomal dominant;Arthrogryposis, distal, type 5, Autosomal dominant;Arthrogryposis, distal, with impaired proprioception and touch, Autosomal recessive	.	422	1095	4	1	0	6	0.00273224	.	.	262271	Arthrogryposis,_distal,_with_impaired_proprioception_and_touch|not_provided|not_specified|autosomal_recessive_PIEZO2_associated_disease	MONDO:MONDO:0014941,MedGen:C4310692,OMIM:617146|MedGen:C3661900|MedGen:CN169374|MedGen:CN238811	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.11	T	0.012	B	0.02	B	0.000	D	1.000	D	1.545	L	-0.65	T	-0.797	T	0.147	T	0.27	1.805	12.00	4.69	1.367	3.600	10.576	0.091	.	0.0053	0.00459265	0.0018	0.0166	0	0	0	0.0005	0	0	0.0006015	93	154602	rs73946020	0.0010	0.0009	0.0011	0.0009	0.0187	0.0009	0.0009	0.0175	0.0170	0.0187	0.0022	3.971e-05	0	0	0.0053	0.0005	0.0019	0.0004	0.0055	0.0056	0.0056	0.0055	0.0179	0.0052	0.0051	0.0168	0.0164	0.0179	0	0.0030	0	0	0	0.0102	0.0006	0.0033	0	0.065	0.36310	T	0.099	0.38891	T	0.012	0.16265	B	0.02	0.19048	B	0.000131	0.49741	D	0.137759	0.725591	0.29880	N	-0.145	0.04423	N	-0.65	0.72237	T	-0.11	0.08653	N	0.266	0.30118	-0.7975	0.55292	T	0.147	0.47219	T	10	0.0037408173	0.00070	T	.	.	.	0.091	0.26358	.	.	0.082315109003	0.07666	0.35116370611918396	0.35030	0.311192059044	0.33425	0.549987196922	0.45856	T	0.007708	0.07099	T	-0.407372	0.02069	T	-0.342343	0.40078	T	0.023957261224709	0.01139	T	0.879412	0.66280	D	0.05414239	0.10346	0.061991114	0.12058	0.054503046	0.10467	0.07239936	0.15613	-7.372	0.57201	T	0.08980590441756385	0.05528	0.104	0.27373	B	.;.;.;.	.;.;.;.	4.143125	0.62090	24.4	0.97214405401763726	0.32874	0.75652	0.37052	D	AEFDBI	0.184506	0.31183	N	-0.0621228694451515	0.39064	2.297635	0.090547890075035	0.44071	2.696044	0.999990393360851	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.56	4.69	0.58546	3.628000	0.54000	3.297000	0.37352	0.599000	0.40250	0.923000	0.32050	0.998000	0.33993	1.000000	0.97212	0.0:0.795:0.1334:0.0716	10.576	0.44414	787	0.46738	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	870.98	71	chr18	10759509	.	C	T	870.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.426;DP=795;ExcessHet=0.0000;FS=2.104;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=-1.198e+00;SOR=1.104	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	20	0	1	0
chr18	10807179	10807179	G	A	exonic	PIEZO2	.	nonsynonymous SNV	PIEZO2:NM_001378183:exon8:c.C1013T:p.P338L	Arthrogryposis, distal, type 3, Autosomal dominant;Arthrogryposis, distal, type 5, Autosomal dominant;Arthrogryposis, distal, with impaired proprioception and touch, Autosomal recessive	.	418	1101	3	0	0	3	0.00136054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	.	.	.	.	0.000	D	1.000	D	2.325	M	-2.01	D	0.468	D	0.720	D	0.855	3.011	16.04	5.33	2.480	9.165	19.006	0.823	0.13879129364	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs766490338	1.877e-05	1.779e-05	2.423e-05	1.317e-05	0.0004	1.306e-05	1.11e-05	6.163e-05	2.548e-05	0	0	0	0	0	0.0004	2.132e-05	1.727e-05	0	1.314e-05	1.313e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.002	0.72154	D	0.001	0.83351	D	.	.	.	.	.	.	0.000001	0.84330	D	0.098480	1	0.81001	D	2.775	0.80997	M	-2.01	0.85613	D	-8.42	0.97170	D	0.877	0.90476	0.468	0.90095	D	0.720	0.90411	D	8	0.86674076	0.85921	D	0.138791	0.82128	D	0.823	0.94353	0.748	0.87905	0.527166514587	0.52364	0.8571573423038219	0.85678	0.634133508613	0.57281	0.773316323757	0.77921	T	0.218395	0.59683	T	0.375475	0.88414	D	0.312386	0.88760	D	0.988466739654541	0.78791	D	0.967203	0.88094	D	0.689624	0.77491	0.67012006	0.80646	0.689624	0.77492	0.67012006	0.80646	-10.275	0.75939	D	0.5557778450046885	0.62392	0.911	0.83512	P	.;.;.;.	.;.;.;.	4.157123	0.62404	24.5	0.97798478795500987	0.36046	0.98510	0.83546	D	AEFBI	0.928742	0.91342	D	0.598525629401434	0.73081	5.908444	0.647525650096046	0.78427	6.874025	0.999999999994548	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.33	5.33	0.75683	9.280000	0.94994	11.598000	0.93454	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:1.0:0.0	19.006	0.92829	844	0.36711	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1607.98	33	chr18	10807179	.	G	A	1607.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.410e-01;DP=812;ExcessHet=0.0000;FS=4.498;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=1.26;SOR=0.925	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1250	20	0	1	0
chr18	11893566	11893566	T	C	exonic	MPPE1	.	nonsynonymous SNV	MPPE1:NM_001242904:exon3:c.A292G:p.M98V	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.998	D	0.987	D	0.000	D	1.000	D	2.35	M	2.4	T	-0.731	T	0.209	T	0.916	3.641	18.52	5.97	2.281	7.413	16.447	0.422	0.0248774837199	.	.	8.26e-06	0	0	0	0	0	0	6.064e-05	6.5e-06	1	154602	rs761324576	1.095e-05	1.094e-05	5.445e-06	1.65e-05	0.0002	6.48e-06	5.24e-06	9.791e-05	7.838e-05	0	0	0	0	0	0	8.993e-07	1.656e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.329	0.73220	B	0.536	0.77487	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.935	0.84639	M	2.4	0.25678	T	-3.99	0.73893	D	0.951	0.95956	-0.7312	0.58903	T	0.209	0.56852	T	10	0.7970841	0.80806	D	0.024877	0.47865	T	0.422	0.73078	0.722	0.85673	0.715137123678	0.71263	0.962609851197638	0.96246	0.439089253012	0.43930	0.516804695129	0.41177	T	0.55326	0.87368	D	0.261058	0.79627	D	0.137215	0.79364	D	0.861333668231964	0.51173	D	0.808919	0.45897	T	0.8734444	0.89136	0.8373023	0.90661	0.8734444	0.89138	0.8373023	0.90661	-10.626	0.77568	D	.	.	0.692	0.73351	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.549159	0.71574	25.7	0.99095880286101123	0.52346	0.97958	0.78429	D	AEFBI	0.951409	0.96595	D	0.522005784235539	0.68392	5.210993	0.593535838882689	0.74475	6.143329	0.999999999996467	0.74766	0.559995	0.30671	0	0.546412	0.12157	0	0.547309	0.15389	0	0.550183	0.17644	0	.	.	5.97	5.97	0.96935	7.392000	0.79116	7.763000	0.68332	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.923000	0.45890	0.0:0.0:0.0:1.0	16.447	0.83783	917	0.20147	Calcineurin-like phosphoesterase domain, ApaH type|Metallophosphoesterase 1, metallophosphatase domain;.;.;Calcineurin-like phosphoesterase domain, ApaH type|Metallophosphoesterase 1, metallophosphatase domain;Calcineurin-like phosphoesterase domain, ApaH type|Metallophosphoesterase 1, metallophosphatase domain;.;Calcineurin-like phosphoesterase domain, ApaH type|Metallophosphoesterase 1, metallophosphatase domain;Calcineurin-like phosphoesterase domain, ApaH type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	1287.33	41	chr18	11893566	.	T	C	1287.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.889;DP=884;ExcessHet=0.0000;FS=1.766;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=13.70;ReadPosRankSum=-4.950e-01;SOR=0.996	GT:AD:DP:GQ:PL	0/1:47,47:94:99:1301,0,1186	19	0	1	1
chr18	11897017	11897017	T	C	exonic	MPPE1	.	nonsynonymous SNV	MPPE1:NM_001242904:exon2:c.A248G:p.E83G	.	.	434	1084	4	0	0	4	0.00184162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.975	D	0.591	P	0.000	D	0.512	D	1.87	L	2.2	T	-1.045	T	0.013	T	0.29	1.985	12.60	1.04	-0.000	2.762	7.420	0.068	.	0.0004	0.0207668	0.0157	0.0017	0.1077	0.0594	0	0.0004	0.0072	0.0040	0.0135703	2098	154602	rs138456014	0.0042	0.0046	0.0044	0.0040	0.0853	0.0041	0.0041	0.0829	0.0819	0.0011	0.0853	4.02e-05	0.0495	0	0.0002	0.0001	0.0050	0.0042	0.0072	0.0072	0.0069	0.0075	0.0492	0.0068	0.0067	0.0443	0.0423	0.0021	0	0.0457	0	0.0492	0	0	0.0002	0.0076	0.0052	0.297	0.14645	T	0.297	0.40586	T	0.257	0.58077	B	0.216	0.50479	B	0.000238	0.47286	D	0.219625	0.51245	0.31830	D	2.48	0.72069	M	2.2	0.85247	T	-3.24	0.65171	D	0.14	0.18512	-1.0448	0.15884	T	0.013	0.05081	T	10	0.002705723	0.00042	T	.	.	.	0.068	0.19811	.	.	.	.	0.811936928221485	0.81149	0.341310771531	0.36068	0.380935847759	0.22389	T	0.483758	0.86551	T	-0.371123	0.03537	T	-0.235571	0.51229	T	0.0496645549582856	0.05441	T	0.966403	0.87711	D	0.37496114	0.58949	0.3462949	0.60299	0.37496114	0.58949	0.3462949	0.60299	-7.755	0.63565	D	.	.	0.149	0.44015	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.566372	0.33247	19.28	0.9963615111106221	0.76387	0.70722	0.34709	D	AEFGBI	0.356281	0.44772	N	-0.270301687462534	0.30299	1.688221	-0.350061133897748	0.26506	1.46457	0.999603408636733	0.40866	0.562547	0.31514	0	0.653731	0.59785	0	0.408882	0.06424	0	0.528226	0.09195	0	.	.	4.94	1.04	0.19220	2.977000	0.48988	3.769000	0.39747	0.665000	0.62972	0.996000	0.39380	0.996000	0.32793	0.781000	0.36947	0.0:0.0737:0.2839:0.6424	7.420	0.26238	912	0.21483	Calcineurin-like phosphoesterase domain, ApaH type|Metallophosphoesterase 1, metallophosphatase domain;.;.;Calcineurin-like phosphoesterase domain, ApaH type|Metallophosphoesterase 1, metallophosphatase domain;Calcineurin-like phosphoesterase domain, ApaH type|Metallophosphoesterase 1, metallophosphatase domain;Calcineurin-like phosphoesterase domain, ApaH type|Metallophosphoesterase 1, metallophosphatase domain;Calcineurin-like phosphoesterase domain, ApaH type;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	922.0	33	chr18	11897017	.	T	C	922.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.880e-01;DP=744;ExcessHet=0.0000;FS=3.105;InbreedingCoeff=-0.0259;MLEAC=1;MLEAF=0.024;MQ=56.79;MQRankSum=0.022;QD=12.29;ReadPosRankSum=-5.000e-03;SOR=0.400	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1202	20	0	1	0
chr18	12115491	12115491	G	C	exonic	ANKRD62	.	nonsynonymous SNV	ANKRD62:NM_001277333:exon10:c.G1197C:p.E399D,	.	.	438	1071	12	1	0	14	0.00649351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.008	B	0.002	B	.	.	1.000	N	0.55	N	1.94	T	-1.002	T	0.027	T	0.043	0.180	4.966	-1.33	-0.427	0.324	2.784	0.028	.	.	0.000798722	0.0015	0	0.0131	0	0	0.0003	0.0088	0.0027	0.0002911	45	154602	rs201296985	0.0005	0.0005	0.0004	0.0006	0.0035	0.0005	0.0005	0.0032	0.0031	0	0.0001	0.0001	2.803e-05	0	0.0027	0.0003	0.0007	0.0035	0.0004	0.0004	0.0004	0.0005	0.0044	0.0003	0.0003	0.0029	0.0025	0.0001	0	0	0	0	0	0	0.0005	0.0009	0.0044	.	.	.	0.135	0.34124	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.24	0.30952	L	.	.	.	.	.	.	0.053	0.02462	-1.0024	0.29226	T	0.027	0.11441	T	9	0.0055009425	0.00121	T	.	.	.	.	.	0.167	0.07186	0.0297737177859	0.01360	0.016638755993050917	0.01618	0.35775201804	0.37485	0.399017810822	0.24932	T	0.052032	0.29047	T	-0.66035	0.00063	T	-0.723429	0.04631	T	0.0187215452914343	0.00585	T	0.542646	0.18460	T	0.029493151	0.02453	0.04351605	0.05432	0.029493151	0.02453	0.04351605	0.05431	-4.283	0.27938	T	.	.	0.138	0.30238	B	.	.	0.813226	0.11844	8.410	0.92554251429571244	0.22005	0.08769	0.14649	N	AEFGBI	0.057604	0.10746	N	-1.42257462830666	0.02441	0.107807	-1.47478220992073	0.02552	0.1176014	0.240502885359574	0.18566	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	1.82	-1.33	0.08693	0.462000	0.21667	-1.777000	0.04745	-0.499000	0.05024	0.660000	0.28260	0.000000	0.08366	0.006000	0.07323	0.342:0.2492:0.4088:0.0	2.784	0.05041	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	491.98	35	chr18	12115491	.	G	C	491.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=912;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.63;ReadPosRankSum=-1.238e+00;SOR=0.698	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	20	0	1	0
chr18	12127901	12127901	G	A	exonic	ANKRD62	.	nonsynonymous SNV	ANKRD62:NM_001277333:exon14:c.G2716A:p.V906I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.99	D	0.869	P	.	.	1.000	N	1.445	L	3.49	T	-1.037	T	0.117	T	0.127	0.735	7.902	1.1	0.404	4.800	4.544	0.116	0.00268139193809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.491	0.11515	T	0.99	0.63424	D	0.869	0.61749	P	.	.	.	.	1	0.08975	N	2.015	0.55033	M	.	.	.	.	.	.	0.237	0.26717	-1.0369	0.18264	T	0.117	0.41209	T	9	0.20387664	0.36558	T	0.002681	0.05492	T	.	.	0.153	0.05648	0.110078149338	0.10416	0.007665797815379618	0.00732	0.339670602382	0.35915	0.609141767025	0.54194	T	0.003676	0.03081	T	-0.180341	0.23686	T	-0.496824	0.22677	T	0.367775622955708	0.27711	T	0.39886	0.10126	T	0.031131502	0.02898	0.10709982	0.25778	0.031131502	0.02897	0.10709982	0.25777	-3.614	0.18060	T	.	.	0.150	0.33273	B	.	.	1.735361	0.22085	15.47	0.88843147212734486	0.18300	0.68156	0.33696	D	AEFGI	0.255809	0.37486	N	-0.0823440089561925	0.38166	2.231271	-0.273268785403472	0.28983	1.620193	2.46352948154679E-4	0.06141	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.0	1.1	0.19578	4.934000	0.63192	6.613000	0.56094	0.325000	0.19437	1.000000	0.71638	1.000000	0.68203	0.749000	0.35751	0.1993:0.0:0.8007:0.0	4.544	0.11471	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	81.99	68	chr18	12127901	.	G	A	81.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.541e+00;DP=977;ExcessHet=0.0000;FS=92.066;InbreedingCoeff=-0.0250;MLEAC=1;MLEAF=0.024;MQ=59.76;MQRankSum=0.553;QD=0.85;ReadPosRankSum=0.674;SOR=6.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,99,1485	20	0	1	0
chr18	12329645	12329645	G	A	exonic	AFG3L2	.	nonsynonymous SNV	AFG3L2:NM_006796:exon17:c.C2314T:p.L772F,	Spastic ataxia 5, autosomal recessive, Autosomal recessive;Spinocerebellar ataxia 28, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	211841	not_specified|not_provided|Spinocerebellar_ataxia_type_28|Spastic_ataxia_5	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246,Orphanet:101109|MONDO:MONDO:0013776,MedGen:C3280977,OMIM:614487,Orphanet:313772	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.07	T	1.0	D	1.0	D	0.000	D	1.000	D	2.85	M	-3.33	D	0.812	D	0.878	D	0.556	4.772	26.8	5.64	2.816	9.420	20.063	0.584	0.119087591298	0.0015	0.000798722	0.0018	0.0008	0.0003	0	0.0029	0.0026	0	0.0008	0.0017917	277	154602	rs117182113	0.0027	0.0027	0.0028	0.0026	0.0033	0.0026	0.0026	0.0032	0.0032	0.0007	0.0002	3.826e-05	0	0.0023	0	0.0033	0.0014	0.0006	0.0015	0.0015	0.0018	0.0013	0.0026	0.0014	0.0013	0.0023	0.0022	0.0006	0	6.54e-05	0	0	0.0022	0	0.0026	0.0005	0.0008	0.042	0.41637	D	0.11	0.37310	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.18	0.88827	M	-3.33	0.93928	D	-3.7	0.70553	D	0.548	0.57433	0.812	0.94560	D	0.878	0.95935	D	10	0.019837528	0.00448	T	0.119088	0.79930	D	0.584	0.83305	.	.	0.960376401545	0.95995	0.3995417082356818	0.39869	0.74875396502	0.63655	0.683334708214	0.64747	T	0.643389	0.89091	D	-0.0790054	0.39875	T	0.114691	0.77883	D	0.0523161474679431	0.05901	T	0.909009	0.67793	D	0.40293422	0.60935	0.2696299	0.52845	0.40293422	0.60936	0.2696299	0.52844	-10.99	0.79604	D	.	.	0.811	0.77821	P	.	.	5.342577	0.89640	31	0.9989384233832731	0.96742	0.98654	0.85187	D	AEFBCI	0.902060	0.84949	D	0.827967866864812	0.87822	9.352447	0.744475700703725	0.85744	8.67281	0.999999999999999	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.64	5.64	0.86480	9.602000	0.97623	11.825000	0.97352	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.0:0.0:1.0:0.0	20.063	0.97683	690	0.58899	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	2339.98	34	chr18	12329645	.	G	A	2339.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.672;DP=1013;ExcessHet=0.0000;FS=2.280;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.31;ReadPosRankSum=0.723;SOR=0.819	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1464	20	0	1	0
chr18	12814235	12814235	C	T	exonic	PTPN2	.	nonsynonymous SNV	PTPN2:NM_001308287:exon6:c.G739A:p.A247T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.794	P	0.216	B	0.002	N	1.000	D	2.125	M	3.61	T	-1.134	T	0.021	T	0.559	3.885	19.75	5.86	2.771	3.660	14.969	0.102	0.00876789102268	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207461588	6.903e-07	3.421e-06	0	1.387e-06	1.18e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.18e-05	1.314e-05	1.314e-05	0	2.691e-05	4.828e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.039	0.54934	D	0.535	0.43786	P	0.192	0.37572	B	0.001669	0.38326	N	0.115428	0.999173	0.51042	D	3.2	0.89116	M	3.59	0.08547	T	-3.58	0.69477	D	0.344	0.41261	-1.1337	0.01613	T	0.021	0.08917	T	10	0.35547003	0.52307	T	0.008768	0.23147	T	0.102	0.29158	0.427	0.47350	0.372852800391	0.36900	0.6334288060791295	0.63276	0.105728612331	0.11951	0.501613557339	0.39053	T	0.381024	0.74343	T	-0.0684986	0.41567	T	-0.33617	0.40778	T	0.963272750377655	0.66611	D	0.937806	0.76632	D	0.35962412	0.57807	0.25244695	0.50874	0.35962412	0.57808	0.25244695	0.50873	-9.242	0.69757	D	.	.	0.158	0.47524	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.106374	0.61274	24.3	0.99791293313253737	0.87661	0.97939	0.78280	D	AEFDGBI	0.505265	0.53649	D	0.395752582900315	0.61191	4.316961	0.491495573655148	0.67425	5.082329	0.999999940755575	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.86	5.86	0.93936	3.760000	0.54947	4.855000	0.45413	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1426:0.8574:0.0:0.0	14.969	0.70864	746	0.52331	.;.;.;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.225	1024.34	23	chr18	12814235	.	C	T	1024.34	.	AC=9;AF=0.225;AN=40;BaseQRankSum=-1.786e+00;DP=832;ExcessHet=4.7172;FS=190.289;InbreedingCoeff=-0.2940;MLEAC=9;MLEAF=0.225;MQ=59.98;MQRankSum=0.00;QD=2.05;ReadPosRankSum=0.165;SOR=10.577	GT:AD:DP:GQ:PL	0/1:27,19:46:98:98,0,391	11	0	9	1
chr18	13056047	13056047	G	A	exonic	CEP192	.	nonsynonymous SNV	CEP192:NM_032142:exon19:c.G3457A:p.V1153I,	.	.	428	1085	8	1	0	10	0.00458716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.021	B	0.015	B	0.010	N	1.000	N	1.1	L	1.77	T	-1.058	T	0.040	T	0.021	1.362	10.48	-4.07	-0.457	-0.260	0.937	0.021	.	0.0010	0.00379393	0.0028	0.0002	0.0009	0	0.0002	0.0011	0.0022	0.0149	0.0025097	388	154602	rs141618343	0.0018	0.0018	0.0014	0.0021	0.0145	0.0017	0.0017	0.0138	0.0135	0.0004	0.0011	0.0003	0	0.0002	0.0144	0.0009	0.0021	0.0145	0.0014	0.0014	0.0011	0.0017	0.0172	0.0013	0.0012	0.0142	0.0131	0.0002	0	0.0013	0.0003	0	0.0004	0.0136	0.0014	0.0019	0.0172	0.314	0.13834	T	0.337	0.30143	T	.	.	.	.	.	.	0.010325	0.01272	N	2.556060	1	0.08975	N	.	.	.	1.77	0.25841	T	-0.41	0.14000	N	0.04	0.02366	-1.0580	0.12260	T	0.040	0.17020	T	10	0.0037399232	0.00069	T	.	.	.	0.021	0.04004	.	.	0.156986980423	0.15292	0.06779668929458785	0.06717	0.0833867563947	0.09409	0.205888345838	0.00649	T	0.016769	0.14695	T	-0.705934	0.00034	T	-0.773828	0.02644	T	0.00108643784687087	0.00010	T	0.686731	0.29555	T	0.018338816	0.00355	0.016219571	0.00014	0.018338816	0.00355	0.016219571	0.00014	-3.878	0.21973	T	.	.	0.104	0.18663	B	.;.;.	.;.;.	-0.245628	0.02866	0.406	0.84205198551874982	0.15157	0.05115	0.10919	N	AEFDBI	0.029584	0.02819	N	-1.13082631772311	0.06101	0.2799629	-1.22733001643063	0.05475	0.2609594	0.902775698442884	0.26135	0.67177	0.52595	0	0.702456	0.74545	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.41	-4.07	0.03707	-0.245000	0.08908	-0.053000	0.12521	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.4395:0.1795:0.1664:0.2146	0.937	0.01261	466	0.78352	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	4002.98	34	chr18	13056047	.	G	A	4002.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.824e+00;DP=1120;ExcessHet=0.0000;FS=0.902;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=0.239;SOR=0.758	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	20	0	1	0
chr18	13056590	13056590	A	C	exonic	CEP192	.	nonsynonymous SNV	CEP192:NM_032142:exon19:c.A4000C:p.N1334H,	.	.	434	1087	1	0	0	1	0.00045977	.	.	3296721	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.2	T	0.874	P	0.639	P	0.595	N	1.000	N	1.39	L	3.33	T	-0.997	T	0.022	T	0.09	0.563	7.044	-3.22E-5	-0.005	-0.068	5.160	0.029	0.0175344935606	.	0.000399361	0.0001	0	0	0	0	0	0	0.0010	0.0001229	19	154602	rs575049700	7.114e-05	7.114e-05	6.126e-05	8.113e-05	0.0011	5.98e-05	5.588e-05	0.0009	0.0008	0	0	0	2.519e-05	0	0.0002	8.993e-07	0.0001	0.0011	2.626e-05	2.625e-05	1.285e-05	4.028e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.228	0.18434	T	0.116	0.48594	T	.	.	.	.	.	.	0.595347	0.11010	N	0.808498	1	0.08975	N	.	.	.	1.86	0.24285	T	-1.06	0.27669	N	0.207	0.22998	-0.9967	0.30838	T	0.022	0.09238	T	10	0.01314044	0.00280	T	0.017534	0.39265	T	0.029	0.06676	0.187	0.09646	0.282179105231	0.27821	0.20111368834490978	0.20028	0.352744523456	0.37098	0.257003635168	0.04540	T	0.016437	0.14658	T	-0.583724	0.00183	T	-0.661697	0.08151	T	0.113018080592155	0.13734	T	0.677032	0.30590	T	0.043468136	0.06778	0.029881135	0.01377	0.043468136	0.06778	0.029881135	0.01376	-3.919	0.22587	T	.	.	0.079	0.14062	B	.;.;.	.;.;.	1.496043	0.19239	14.16	0.96705495471224601	0.30792	0.13290	0.17772	N	AEFBI	0.069773	0.13825	N	-0.648167812464546	0.17514	0.901876	-0.789723440887692	0.14747	0.7721494	0.52584193734344	0.21135	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.13	-3.22E-5	0.13363	-0.033000	0.12196	2.133000	0.30793	0.756000	0.94297	0.000000	0.06391	0.001000	0.17328	0.004000	0.06068	0.6246:0.1429:0.2325:0.0	5.160	0.14384	466	0.78352	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3028.98	40	chr18	13056590	.	A	C	3028.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=938;ExcessHet=0.0000;FS=0.514;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.42;ReadPosRankSum=1.45;SOR=0.743	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr18	13057699	13057699	T	C	exonic	CEP192	.	nonsynonymous SNV	CEP192:NM_032142:exon20:c.T4223C:p.I1408T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.923	D	0.022	N	1.000	D	2.045	M	2.86	T	-1.121	T	0.075	T	0.858	2.829	15.42	5.23	2.095	7.044	15.416	0.406	0.016650349199	7.7e-05	.	2.474e-05	0	0	0	0	4.5e-05	0	0	1.94e-05	3	154602	rs139654577	1.231e-05	1.231e-05	1.77e-05	6.876e-06	0.0002	7.7e-06	6.35e-06	9.24e-06	4.56e-06	0	2.236e-05	0	0	1.872e-05	0.0002	8.993e-06	3.312e-05	3.478e-05	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.002	0.72154	D	0.007	0.74150	D	.	.	.	.	.	.	0.022241	0.26671	N	0.352897	0.99951	0.47363	D	.	.	.	1.29	0.35775	T	-3.58	0.69118	D	0.834	0.82964	-1.1212	0.02257	T	0.075	0.30117	T	10	0.7001247	0.72391	D	0.01665	0.38007	T	0.406	0.71869	.	.	0.707482077701	0.70493	0.6552905298551482	0.65465	0.477938957657	0.46890	0.338201403618	0.16169	T	0.328767	0.69914	T	0.144472	0.68749	D	0.052613	0.73757	D	0.832959175109863	0.48761	D	0.889011	0.61998	D	0.3093519	0.53730	0.37049845	0.62298	0.3093519	0.53730	0.37049845	0.62298	-10.028	0.74079	D	.	.	0.303	0.54019	B	.;.;.	.;.;.	3.755906	0.53860	23.4	0.99569531271173439	0.72318	0.99686	0.98662	D	AEFDBI	0.665034	0.63400	D	0.491463444401076	0.66588	4.969833	0.400793580589111	0.61614	4.364022	0.999999989017511	0.74766	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.23	5.23	0.72570	7.003000	0.76062	6.025000	0.52847	0.665000	0.62972	1.000000	0.71638	0.995000	0.32472	0.159000	0.20615	0.0:0.0:0.0:1.0	15.416	0.74690	466	0.78352	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	769.98	33	chr18	13057699	.	T	C	769.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.370e-01;DP=777;ExcessHet=0.0000;FS=7.211;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.46;ReadPosRankSum=0.420;SOR=0.362	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr18	14106283	14106283	T	G	exonic	ZNF519	.	nonsynonymous SNV	ZNF519:NM_145287:exon3:c.A257C:p.E86A,	.	.	489	1023	10	0	0	10	0.00486381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.064	B	0.009	B	.	.	1.000	N	0.77	N	.	.	-1.028	T	0.064	T	0.097	0.722	7.843	0.646	0.552	-0.748	5.628	0.007	0.00154493361717	0.0003	0.000599042	0.0004	0	0.0007	0	0	0.0002	0.0033	0.0013	0.0003752	58	154602	rs143444225	0.0002	0.0002	0.0002	0.0002	0.0033	0.0002	0.0002	0.0022	0.0018	2.989e-05	0.0006	0	0	0	0.0033	8.634e-05	0.0004	0.0015	0.0003	0.0003	0.0003	0.0003	0.0017	0.0002	0.0002	0.0009	0.0007	2.416e-05	0	0.0013	0	0	0	0.0034	0.0001	0.0009	0.0017	.	.	.	0.08	0.41913	T	0.064	0.23455	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	1.28	0.32218	L	3.45	0.05311	T	.	.	.	0.052	0.02366	-1.0280	0.21103	T	0.064	0.26527	T	8	0.008809119	0.00200	T	0.001545	0.02420	T	.	.	.	.	0.156986980423	0.15292	0.01992207357186179	0.01945	0.0118109347836	0.01115	0.382825911045	0.22657	T	0.026126	0.19398	T	-0.636474	0.00087	T	-0.732579	0.04212	T	0.00225764680909057	0.00023	T	0.153585	0.01326	T	0.079272166	0.18101	0.06400707	0.12764	0.079272166	0.18101	0.06400707	0.12764	-7.539	0.57884	D	.	.	0.182	0.39511	B	.	.	0.257364	0.06360	2.825	0.90157853371931396	0.19436	0.01873	0.05770	N	AEFBCI	0.036960	0.05009	N	-1.07509044630143	0.07105	0.3290649	-1.1679865440364	0.06451	0.3105643	0.0818695494423543	0.15885	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	0.646	0.646	0.16961	0.282000	0.18587	.	.	-0.701000	0.04053	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:1.0E-4:0.0:0.9999	5.628	0.16773	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	639.98	38	chr18	14106283	.	T	G	639.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.681;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=-4.280e-01;SOR=0.589	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1127	20	0	1	0
chr18	14513679	14513679	T	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1516C:p.K506Q,	.	.	1001	337	183	1	0	185	0.215367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.455	P	0.137	B	.	.	1.000	N	1.495	L	1.38	T	-1.046	T	0.060	T	0.15	-1.338	0.030	-0.976	-0.290	0.960	4.177	0.021	0.000961216431828	.	.	.	.	.	.	.	.	.	.	8.41e-05	13	154602	rs28606506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.267	0.22561	T	0.455	0.36245	P	0.137	0.33328	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	1.38	0.34050	T	0.11	0.05706	N	0.36	0.40164	-1.0459	0.15563	T	0.060	0.25273	T	9	0.10279083	0.18859	T	9.61E-4	0.00980	T	0.021	0.04004	0.44	0.49484	0.191931220699	0.18833	0.008575884169956268	0.00821	.	.	0.661467790604	0.61620	T	0.009409	0.08568	T	-0.232587	0.16309	T	-0.571872	0.15279	T	0.115140116944907	0.13948	T	0.559044	0.19511	T	0.0817621	0.18801	0.04864013	0.07268	0.0817621	0.18801	0.04864013	0.07268	-3.826	0.21193	T	.	.	0.126	0.26545	B	.	.	1.424813	0.18423	13.73	0.59010782571540543	0.06124	0.01638	0.05273	N	AEFI	0.034532	0.04293	N	-0.924811265974744	0.10264	0.4896489	-1.10812489953313	0.07544	0.3673648	1.29605380073252E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-0.976	0.09761	1.060000	0.30139	.	.	0.332000	0.19570	0.003000	0.16062	0.000000	0.08366	0.028000	0.12845	0.0:0.4792:0.0:0.5208	4.177	0.09818	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2857	6662.91	35	chr18	14513679	.	T	G	6662.91	.	AC=12;AF=0.286;AN=42;BaseQRankSum=4.54;DP=3722;ExcessHet=9.6308;FS=15.336;InbreedingCoeff=-0.4158;MLEAC=12;MLEAF=0.286;MQ=50.97;MQRankSum=-9.346e+00;QD=2.29;ReadPosRankSum=-3.404e+00;SOR=2.155	GT:AD:DP:GQ:PL	0/1:210,55:265:99:958,0,5289	9	0	12	0
chr18	14513766	14513766	G	A	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.C1429T:p.R477W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.267	B	0.005	B	.	.	1.000	N	0	N	1.61	T	-1.042	T	0.032	T	0.222	-0.939	0.361	1.38	1.049	2.099	6.135	0.026	0.00107483341731	.	.	2.988e-05	0	0	0	0	5.541e-05	0	0	6.5e-06	1	154602	rs762894153	2.882e-05	2.941e-05	3.413e-05	2.346e-05	6.023e-05	2.158e-05	1.914e-05	2.287e-05	2.024e-05	6.023e-05	2.265e-05	0	0	0	0	3.15e-05	6.656e-05	0	7.242e-05	7.227e-05	0.0001	4.045e-05	0.0005	3.979e-05	3.133e-05	0.0002	0.0002	7.261e-05	0	0.0005	0	0	0	0	1.471e-05	0	0	0.001	0.78490	D	0.004	0.74150	D	0.267	0.31683	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.61	0.28391	T	-1.17	0.29933	N	0.293	0.33140	-1.0420	0.16711	T	0.032	0.13767	T	9	0.11069617	0.20700	T	0.001075	0.01239	T	0.026	0.05648	0.348	0.34436	0.247322355667	0.24350	0.02917539624017158	0.02866	.	.	0.576120972633	0.49540	T	0.00622	0.05657	T	-0.358799	0.04198	T	-0.561484	0.16238	T	0.174936558845684	0.18909	T	0.723528	0.33695	T	0.065151855	0.13896	0.070568934	0.15008	0.065151855	0.13895	0.070568934	0.15008	-4.544	0.31460	T	.	.	0.088	0.11606	B	.	.	2.573448	0.33351	19.31	0.91129974575915917	0.20383	0.35002	0.25200	N	AEFI	0.088983	0.18037	N	-0.794206020537556	0.13461	0.6632361	-0.825207573442019	0.13884	0.7226912	2.85658274935916E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.38	1.38	0.21262	2.411000	0.44254	.	.	0.338000	0.19717	0.991000	0.37257	0.409000	0.24749	0.011000	0.09372	0.0:0.0:1.0:0.0	6.135	0.19446	940	0.13648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2653.98	35	chr18	14513766	.	G	A	2653.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.706;DP=1464;ExcessHet=0.0000;FS=0.495;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.72;MQRankSum=-1.197e+00;QD=12.06;ReadPosRankSum=2.23;SOR=0.736	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	20	0	1	0
chr18	14513787	14513787	T	C	splicing	POTEC	NM_001137671:exon10:c.1410-2A>G	.	.	.	.	994	521	7	0	0	7	0.00667302	0.9996	0.558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	-1.436	0.020	0.702	0.544	.	.	.	.	.	0.0197684	0.0144	0.0072	0.0022	0.0229	0.0074	0.0104	0.0057	0.0474	0.0085704	1325	154602	rs8095431	0.0090	0.0090	0.0082	0.0098	0.0429	0.0089	0.0088	0.0412	0.0405	0.0060	0.0029	0.0013	0.0429	0.0052	0.0154	0.0066	0.0086	0.0334	0.0083	0.0083	0.0080	0.0086	0.0405	0.0079	0.0078	0.0358	0.0341	0.0064	0	0.0039	0.0009	0.0284	0.0044	0.0306	0.0077	0.0066	0.0405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999935	0.19363	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.798505	0.00008	T	-0.894011	0.00546	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.342760	0.46072	22.2	0.78168870682474034	0.12185	0.01012	0.03817	N	AEFI	.	.	.	-0.00385594114453219	0.41679	2.497468	-0.459820587356929	0.23271	1.268173	1.40848488218025E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0884565	0.20023	0.702	0.702	0.17269	-0.679000	0.05304	.	.	0.332000	0.19570	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	.	.	.	940	0.13648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2889.11	35	chr18	14513787	.	T	C	2889.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=5.05;DP=1286;ExcessHet=0.1072;FS=5.774;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=51.38;MQRankSum=3.19;QD=7.70;ReadPosRankSum=1.18;SOR=0.976	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	19	0	2	0
chr18	14763845	14763845	A	C	exonic	ANKRD30B	.	nonsynonymous SNV	ANKRD30B:NM_001367607:exon7:c.A980C:p.K327T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.736	P	0.188	B	.	.	1.000	N	1.245	L	1.33	T	-1.060	T	0.051	T	0.155	0.562	7.036	-0.47	-0.738	-0.668	.	0.116	0.0243909087441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.128	0.34959	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.55	0.14455	N	1.32	0.35219	T	-1.53	0.37178	N	0.077	0.05162	-1.0601	0.11731	T	0.051	0.21533	T	8	0.06541929	0.08822	T	0.024391	0.47377	T	0.116	0.32463	0.448	0.50793	0.0762999501168	0.06990	0.11035155440413794	0.10964	0.108879720008	0.12275	0.549918830395	0.45846	T	0.00248	0.01875	T	-0.242572	0.15022	T	-0.586215	0.13995	T	0.198929131031036	0.20357	T	0.431557	0.11736	T	0.13530983	0.31409	0.109059915	0.26279	0.13530983	0.31408	0.109059915	0.26278	-5.769	0.44303	T	.	.	0.214	0.44280	B	.	.	1.463176	0.18861	13.96	0.98288235213150221	0.39926	0.00142	0.00866	N	AEFI	0.029639	0.02836	N	-1.16736189540889	0.05500	0.2508969	-1.38463652536693	0.03415	0.1592509	5.15593110392241E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.235	-0.47	0.11525	0.311000	0.19129	.	.	0.365000	0.20147	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2719.98	37	chr18	14763845	.	A	C	2719.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.563e+00;DP=936;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-5.340e-01;SOR=0.663	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1405	20	0	1	0
chr18	14763932	14763932	A	G	exonic	ANKRD30B	.	nonsynonymous SNV	ANKRD30B:NM_001367607:exon7:c.A1067G:p.E356G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.005	B	0.004	B	.	.	1.000	N	-0.205	N	1.52	T	-0.999	T	0.026	T	0.081	-1.960	0.007	-0.47	-0.738	-1.276	.	0.001	0.0122353406664	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1189736829	1.372e-06	2.052e-06	1.364e-06	1.379e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517	0.07330	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	1.52	0.30669	T	0.01	0.06868	N	0.036	0.01068	-0.9986	0.30311	T	0.026	0.11353	T	8	0.043631345	0.03233	T	0.012235	0.30616	T	0.001	0.00016	0.206	0.12216	0.0611884634855	0.05136	0.041265565778957326	0.04071	0.0311442194996	0.03231	0.493805766106	0.37967	T	0.002051	0.01461	T	-0.375597	0.03320	T	-0.777296	0.02536	T	0.0308144814612847	0.02116	T	0.264174	0.04286	T	0.027503526	0.01952	0.08654061	0.20057	0.027503526	0.01952	0.08654061	0.20057	-5.341	0.40347	T	.	.	0.141	0.30997	B	.	.	-0.280009	0.02706	0.354	0.33804021952212465	0.02033	0.00079	0.00540	N	AEFI	0.022788	0.01185	N	-1.64942167895752	0.01037	0.04500166	-1.72688737511905	0.01023	0.04590113	5.15593110392241E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.235	-0.47	0.11525	-1.283000	0.02904	.	.	-2.489000	0.00267	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	4248.11	37	chr18	14763932	.	A	G	4248.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-8.920e-01;DP=1008;ExcessHet=0.1072;FS=1.971;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.91;ReadPosRankSum=0.654;SOR=0.582	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1405	19	0	2	0
chr18	14808717	14808717	T	G	exonic	ANKRD30B	.	nonsynonymous SNV	ANKRD30B:NM_001367607:exon26:c.T2359G:p.L787V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	.	.	.	.	.	.	1.000	N	.	.	.	.	-1.013	T	0.057	T	.	-0.652	1.133	-1.1	-0.648	-1.016	.	0.001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.193e-06	2.056e-06	0	4.446e-06	9.435e-07	5.8e-07	1.6e-07	.	.	0	0	0	0	0	0	9.435e-07	3.533e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	382.98	34	chr18	14808717	.	T	G	382.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.325e+00;DP=594;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.01;MQRankSum=1.13;QD=14.18;ReadPosRankSum=-9.780e-01;SOR=0.527	GT:AD:DP:GQ:PL	0/0:25,0:25:75:0,75,751	20	0	1	0
chr18	14850257	14850257	A	G	exonic	ANKRD30B	.	nonsynonymous SNV	ANKRD30B:NM_001367607:exon41:c.A3439G:p.I1147V,	.	.	477	1043	2	0	0	2	0.000957854	.	.	3454177	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.38	T	0.165	B	0.011	B	.	.	0.652	N	1.445	L	2.34	T	-1.012	T	0.028	T	0.064	-3.484	0.001	0.113	0.032	1.501	5.478	0.018	0.00173700117256	.	0.000199681	0.0002	0	0.0003	0	0	0.0001	0	0.0009	0.0001229	19	154602	rs564413111	7.728e-05	8.004e-05	6.229e-05	9.246e-05	0.0006	6.538e-05	6.111e-05	0.0005	0.0004	3.142e-05	5.115e-05	0	0	0	0.0005	4.808e-05	3.378e-05	0.0006	3.949e-05	3.937e-05	2.575e-05	5.386e-05	0.0004	1.718e-05	1.131e-05	7.299e-05	3.032e-05	0	0	0.0002	0	0	0	0	1.476e-05	0	0.0004	0.478	0.08286	T	0.064	0.44905	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.01	0.25309	L	2.34	0.16351	T	0.07	0.06138	N	0.049	0.02088	-1.0119	0.26322	T	0.028	0.12190	T	9	0.01800564	0.00388	T	0.001737	0.02934	T	0.018	0.03083	.	.	0.167679373172	0.16340	0.006275708283549896	0.00595	0.0344480146263	0.03621	0.912703156471	0.97720	D	0.001389	0.00857	T	-0.359972	0.04131	T	-0.754852	0.03301	T	0.0211805932494161	0.00820	T	0.346065	0.07604	T	0.036358442	0.04456	0.03477783	0.02605	0.036358442	0.04455	0.03477783	0.02604	-3.317	0.13958	T	.	.	0.225	0.45702	B	.	.	0.165735	0.05554	2.014	0.17180775745358692	0.00490	0.08149	0.14114	N	AEGBI	0.047544	0.08017	N	-1.00747084409832	0.08448	0.396142	-1.11544826201753	0.07404	0.3600527	4.90357958852467E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.48	0.113	0.13937	1.736000	0.37811	.	.	0.349000	0.19912	0.131000	0.23362	0.000000	0.08366	0.003000	0.05239	0.7135:0.2864:0.0:0.0	5.478	0.16002	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	646.98	35	chr18	14850257	.	A	G	646.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.119;DP=737;ExcessHet=0.0000;FS=0.995;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.97;ReadPosRankSum=8.000e-03;SOR=0.544	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1246	20	0	1	0
chr18	14851518	14851518	A	G	exonic	ANKRD30B	.	nonsynonymous SNV	ANKRD30B:NM_001367607:exon42:c.A3574G:p.T1192A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.017	B	0.005	B	.	.	1.000	N	1.59	L	2.34	T	-1.012	T	0.035	T	0.042	-0.215	2.958	0.212	0.007	1.791	6.188	0.045	0.00291464088749	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1231796608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.31383	T	0.135	0.34124	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.83	0.20963	L	2.34	0.16351	T	-1.11	0.28703	N	0.03	0.00717	-1.0115	0.26447	T	0.035	0.15074	T	9	0.065399736	0.08819	T	0.002915	0.06162	T	0.045	0.12272	.	.	0.0482279557977	0.04254	0.006452707389506797	0.00613	0.0318142403543	0.03299	0.849252104759	0.89502	D	0.003922	0.03333	T	-0.387684	0.02784	T	-0.794657	0.02039	T	0.102265505721601	0.12604	T	0.229577	0.03081	T	0.036108065	0.04378	0.040937223	0.04540	0.036108065	0.04378	0.040937223	0.04539	-4.339	0.28720	T	.	.	0.179	0.39012	B	.	.	0.356051	0.07288	3.897	0.29208554072945636	0.01538	0.08831	0.14701	N	AEFDGBI	0.045963	0.07577	N	-1.34053043592119	0.03223	0.1436517	-1.44559681357169	0.02810	0.129943	0.0927884093635131	0.16167	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.48	0.212	0.14516	1.721000	0.37654	.	.	-2.121000	0.00385	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.7483:0.2517:0.0:0.0	6.188	0.19722	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1156.98	34	chr18	14851518	.	A	G	1156.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.089e+00;DP=797;ExcessHet=0.0000;FS=4.680;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=52.40;MQRankSum=-1.345e+00;QD=13.45;ReadPosRankSum=-1.189e+00;SOR=0.320	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,103,1252	20	0	1	0
chr18	21477177	21477177	T	C	exonic	GREB1L	.	nonsynonymous SNV	GREB1L:NM_001142966:exon17:c.T2377C:p.S793P,	.	.	429	1089	4	0	0	4	0.00183318	.	.	756387	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.22	T	0.979	D	0.776	P	0.000	D	1.000	D	1.555	L	3.13	T	-1.127	T	0.037	T	0.613	2.928	15.76	4.15	0.932	6.039	9.799	0.123	0.0156490588893	.	.	0.0008	0	0	0	0	0.0016	0	0.0003	0.0001294	20	154602	rs201945550	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0008	0.0006	6.332e-05	2.805e-05	0.0062	0	2.024e-05	0.0016	6.491e-05	0.0005	0.0001	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	4.764e-05	3.339e-05	2.412e-05	0	0	0.0069	0	0	0.0032	0.0001	0.0005	0	0.146	0.25055	T	0.122	0.35710	T	0.963	0.59044	D	0.698	0.57120	P	0.000049	0.53742	D	0.000000	0.997624	0.81001	D	2.045	0.56016	M	3.13	0.08014	T	-1.98	0.45769	N	0.606	0.66787	-1.1272	0.01921	T	0.037	0.15856	T	10	0.009940386	0.00223	T	0.015649	0.36500	T	0.123	0.34020	.	.	0.237489013734	0.23353	0.49198798460717835	0.49119	.	.	0.563418507576	0.47750	T	0.008032	0.07391	T	-0.269986	0.11759	T	-0.377284	0.36041	T	0.113182731063226	0.13750	T	0.825817	0.48860	T	0.3587693	0.57742	0.40521434	0.64928	0.3587693	0.57742	0.40521434	0.64928	-4.313	0.28358	T	0.3179187813346066	0.41599	0.149	0.36436	B	.;.;.	.;.;.	4.166423	0.62610	24.5	0.99762964809125088	0.85254	0.96747	0.70723	D	AEFGI	0.773861	0.70774	D	0.389993756892268	0.60880	4.281891	0.390786461701051	0.60996	4.293734	0.999437241792456	0.39683	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.34	4.15	0.47978	4.065000	0.57229	4.985000	0.46489	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.899000	0.43558	0.2748:0.0:0.0:0.7252	9.799	0.39923	401	0.82673	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	859.98	36	chr18	21477177	.	T	C	859.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.190e-01;DP=756;ExcessHet=0.0000;FS=3.486;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.44;ReadPosRankSum=0.853;SOR=1.263	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1205	20	0	1	0
chr18	21500125	21500125	C	G	exonic	GREB1L	.	nonsynonymous SNV	GREB1L:NM_001142966:exon22:c.C3788G:p.A1263G,	.	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.3	B	0.13	B	0.033	N	1.000	D	0.895	L	3.15	T	-0.966	T	0.020	T	0.18	2.525	14.40	4.44	2.289	4.044	17.256	0.041	0.0078443216968	.	.	0.0005	0.0005	0	0	0	0.0008	0	0.0003	9.7e-05	15	154602	rs764201914	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	0	0.0002	0.0002	0	6.101e-05	0.0004	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0004	0.0005	0.0002	0.0002	0.0004	0.0004	7.213e-05	0	0.0003	0	0	0	0.0068	0.0005	0.0005	0.0004	0.523	0.07545	T	0.531	0.10069	T	0.062	0.23277	B	0.092	0.30031	B	0.032988	0.24955	N	0.374250	0.959	0.81001	D	1.545	0.39105	L	3.14	0.07920	T	-1.88	0.43906	N	0.174	0.19055	-0.9662	0.37974	T	0.020	0.08453	T	10	0.0824098	0.13598	T	0.007844	0.20798	T	0.041	0.10877	.	.	0.0954503805726	0.09146	0.25835570598543967	0.25749	.	.	0.450372576714	0.31994	T	0.006587	0.06018	T	-0.47675	0.00773	T	-0.590531	0.13619	T	0.0265065958382938	0.01474	T	0.79742	0.44372	T	0.18786559	0.40260	0.18223412	0.41137	0.18786559	0.40260	0.18223412	0.41137	-6.486	0.51122	T	0.13793337855143573	0.15220	0.105	0.23041	B	.;.;.	.;.;.	3.113343	0.42004	21.5	0.98901032146306944	0.48181	0.95234	0.63935	D	AEFDBI	0.559519	0.56830	D	-0.10653041132007	0.37108	2.154221	0.0541764647067865	0.42275	2.554106	0.99999999999995	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.44	4.44	0.53164	2.545000	0.45429	7.360000	0.58341	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	17.256	0.86942	402	0.82617	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1547.98	52	chr18	21500125	.	C	G	1547.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.680;DP=934;ExcessHet=0.0000;FS=0.658;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=-2.240e-01;SOR=0.585	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr18	21573514	21573514	G	A	exonic	ESCO1	.	nonsynonymous SNV	ESCO1:NM_052911:exon4:c.C1330T:p.H444Y,	.	.	437	1068	16	1	0	18	0.00835655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.001	B	0.002	B	0.018	N	1.000	N	0.4	N	1.85	T	-1.058	T	0.064	T	0.234	-0.663	1.095	2.64	0.815	0.636	7.288	0.031	.	0.0013	0.00359425	0.0044	0.0003	0.0015	0	0.0009	0.0034	0.0033	0.0164	0.0039003	603	154602	rs146713905	0.0025	0.0025	0.0020	0.0030	0.0155	0.0024	0.0024	0.0148	0.0145	0.0003	0.0011	0.0070	0	0.0008	0.0057	0.0017	0.0027	0.0155	0.0016	0.0016	0.0015	0.0017	0.0125	0.0014	0.0014	0.0100	0.0090	0.0003	0	0.0018	0.0063	0	0.0002	0.0034	0.0017	0.0019	0.0125	0.114	0.28646	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.06944	B	0.018265	0.27521	N	0.318671	1	0.08975	N	1.43	0.35840	L	0.28	0.59037	T	-1.28	0.32185	N	0.136	0.13341	-1.0582	0.12209	T	0.064	0.26385	T	10	0.0045928657	0.00096	T	.	.	.	0.031	0.07369	.	.	0.31506500091	0.31122	0.1572316535599928	0.15644	0.0083966144787	0.00763	0.282772749662	0.07882	T	0.029098	0.20925	T	-0.474557	0.00796	T	-0.441471	0.28644	T	0.00511513531306711	0.00055	T	0.555444	0.19245	T	0.025368847	0.01468	0.04517232	0.06021	0.025368847	0.01468	0.04517232	0.06020	-4.255	0.27541	T	.	.	0.073	0.04477	B	.	.	0.243426	0.06232	2.687	0.91231191674201328	0.20488	0.05980	0.11941	N	AEFDBI	0.041615	0.06349	N	-0.830299534586985	0.12541	0.6119013	-0.747720079566386	0.15778	0.8315228	0.0928019650306416	0.16167	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.8	2.64	0.30504	0.666000	0.24779	2.123000	0.30732	0.676000	0.76740	0.060000	0.21767	0.982000	0.30508	0.096000	0.18090	0.3762:0.0:0.6238:0.0	7.288	0.25522	613	0.66686	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3717.11	33	chr18	21573514	.	G	A	3717.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.80;DP=937;ExcessHet=0.1072;FS=1.538;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.75;ReadPosRankSum=0.599;SOR=0.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1413	19	0	2	0
chr18	21704577	21704577	G	A	exonic	ABHD3	.	nonsynonymous SNV	ABHD3:NM_001308256:exon1:c.C89T:p.S30L	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.989	D	0.638	P	0.000	D	1.000	D	1.61	L	2.89	T	-1.108	T	0.043	T	0.691	3.035	16.13	5.12	2.386	8.587	17.122	0.189	0.0867795416898	.	.	2.203e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs778304671	5.739e-06	8.209e-06	4.268e-06	7.233e-06	3.853e-05	2.47e-06	1.78e-06	1.023e-05	4.84e-06	0	0	0	0	0	0	4.624e-06	0	3.853e-05	6.574e-06	6.567e-06	0	1.346e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.081	0.33418	T	0.222	0.65728	T	0.913	0.50474	P	0.089	0.29769	B	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.24	0.63355	M	2.89	0.10196	T	-1.34	0.33401	N	0.732	0.76019	-1.1078	0.03265	T	0.043	0.18410	T	10	0.5163352	0.62387	D	0.08678	0.74805	D	0.189	0.46613	0.407	0.44066	0.286848849266	0.28300	0.7695187819420866	0.76900	0.194962813316	0.21832	0.810510933399	0.83571	D	0.060166	0.31314	T	0.019665	0.54337	T	-0.209529	0.53740	T	0.895688593387604	0.54728	D	0.945205	0.79148	D	0.45696315	0.64482	0.49537507	0.70816	0.45696315	0.64483	0.49537507	0.70817	-2.987	0.10042	T	.	.	0.251	0.49950	B	.;.	.;.	4.547702	0.71547	25.7	0.96983417693526064	0.31871	0.96896	0.71531	D	ALL	0.877254	0.80177	D	0.293297466231783	0.55808	3.744928	0.301169830107229	0.55609	3.723751	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.372554	0.06265	0	.	.	5.12	5.12	0.69459	8.817000	0.91609	11.252000	0.90779	0.502000	0.22824	1.000000	0.71638	1.000000	0.68203	0.949000	0.49496	0.0:0.0:1.0:0.0	17.122	0.86580	690	0.58899	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	671.98	33	chr18	21704577	.	G	A	671.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=756;ExcessHet=0.0000;FS=0.927;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.18;ReadPosRankSum=-7.070e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/1:38,28:66:99:686,0,863	20	0	1	0
chr18	22172093	22172093	C	T	exonic	GATA6	.	nonsynonymous SNV	GATA6:NM_005257:exon2:c.C949T:p.R317W,	Atrial septal defect 9, Autosomal dominant;Atrioventricular septal defect 5, Autosomal dominant;Pancreatic agenesis and congenital heart defects, Autosomal dominant;Persistent truncus arteriosus;Tetralogy of Fallot, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.999	D	0.115	U	0.954	D	0.69	N	-5.69	D	0.803	D	0.934	D	0.711	2.308	13.67	-0.162	-0.360	0.407	3.469	0.568	0.959716465772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.28e-06	6.84e-06	4.461e-06	0	.	6.1e-07	1.7e-07	.	.	0	0	0	0	0	0	0	5.476e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.007	0.69154	D	1.0	0.90584	D	0.999	0.92359	D	0.114646	0.19267	U	0.448963	0.953629	0.37839	D	1.39	0.34934	L	-5.69	0.99278	D	-4.44	0.77637	D	0.456	0.49511	0.803	0.94443	D	0.934	0.97815	D	10	0.77427	0.77330	D	0.959716	0.99735	D	0.568	0.82403	0.691	0.82843	0.964424718657	0.96404	0.6689191993641748	0.66829	.	.	0.909485459328	0.97422	D	0.978843	0.99814	D	0.278347	0.81175	D	0.16205	0.80932	D	0.981496036052704	0.73944	D	0.747125	0.36767	T	0.37259716	0.58776	0.24879612	0.50437	0.37259716	0.58777	0.24879612	0.50436	-10.324	0.75829	D	0.8910968578097473	0.94572	0.597	0.68768	P	.;.	.;.	4.021824	0.59410	24.1	0.99776001958031946	0.86346	0.30074	0.23988	N	AEFDBCIJ	0.320893	0.42386	N	-0.392301346608151	0.25742	1.399703	-0.607582121836334	0.19298	1.034756	0.999596309509978	0.40745	0.497415	0.19182	0	0.59043	0.45803	0	0.608004	0.38603	0	0.375	0.06713	1	.	.	2.91	-0.162	0.12712	0.635000	0.24318	2.525000	0.33139	0.505000	0.23025	0.192000	0.24212	0.999000	0.35428	0.693000	0.33928	0.3401:0.4522:0.0:0.2077	3.469	0.07124	897	0.25382	GATA-type transcription activator, N-terminal;GATA-type transcription activator, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1033.98	35	chr18	22172093	.	C	T	1033.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.64;DP=800;ExcessHet=0.0000;FS=1.743;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=0.109;SOR=0.990	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1041	20	0	1	0
chr18	22417667	22417667	C	A	exonic	CTAGE1	.	nonsynonymous SNV	CTAGE1:NM_172241:exon1:c.G145T:p.A49S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.951	P	0.69	P	.	.	1.000	N	2.37	M	1.29	T	-0.985	T	0.143	T	0.156	0.302	5.637	0.654	0.587	0.545	.	0.038	0.0016011505263	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.17643	T	0.102	0.38450	T	0.951	0.53992	P	0.69	0.53781	P	.	.	.	.	1	0.08975	N	2.295	0.65404	M	1.29	0.35775	T	-2.28	0.50830	N	0.131	0.12627	-0.9851	0.33808	T	0.143	0.46404	T	7	0.16861552	0.31423	T	0.001601	0.02574	T	0.038	0.09825	0.426	0.47185	0.199424873507	0.19547	0.36942159148925835	0.36856	0.0142283947474	0.01355	0.472976744175	0.35090	T	0.060762	0.31473	T	-0.182268	0.23400	T	-0.499592	0.22390	T	0.421009600162506	0.29728	T	.	.	.	0.15180032	0.34490	0.20935872	0.45276	0.15180032	0.34490	0.20935872	0.45275	-5.271	0.39655	T	.	.	0.155	0.34405	B	.	.	1.419767	0.18362	13.70	0.91595836396841446	0.20878	0.01380	0.04701	N	AEFDBIJ	0.030774	0.03161	N	-0.429781276335592	0.24431	1.319082	-0.730057186575639	0.16213	0.8566619	0.99786505878883	0.36124	0.422189	0.06491	0	0.573888	0.26702	0	0.600433	0.31921	0	0.564101	0.26826	0	.	.	0.654	0.654	0.17006	0.853000	0.27431	0.179000	0.15609	0.298000	0.18894	0.069000	0.22043	0.000000	0.08366	0.002000	0.04165	.	.	.	916	0.20744	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2138.02	36	chr18	22417667	.	C	A	2138.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.155e+00;DP=900;ExcessHet=0.0000;FS=2.768;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.28;ReadPosRankSum=0.333;SOR=0.587	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr18	23601272	23601272	C	T	exonic	ANKRD29	.	nonsynonymous SNV	ANKRD29:NM_001308238:exon9:c.G761A:p.R254H	.	.	427	1059	34	2	0	38	0.0176252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.108	B	0.023	B	0.000	N	0.993	D	0.55	N	0.03	T	-1.041	T	0.086	T	0.11	2.076	12.90	2.21	0.418	0.185	7.571	0.036	0.013438856657	0.0018	0.00139776	0.0018	0.0006	0.0016	0.0002	0	0.0020	0.0066	0.0031	0.001727	267	154602	rs143279851	0.0019	0.0019	0.0017	0.0020	0.0324	0.0018	0.0018	0.0286	0.0272	0.0007	0.0028	0.0025	2.52e-05	0.0001	0.0324	0.0016	0.0039	0.0031	0.0020	0.0020	0.0018	0.0022	0.0053	0.0018	0.0018	0.0044	0.0040	0.0005	0	0.0053	0.0029	0	0.0002	0.0479	0.0021	0.0061	0.0046	.	.	.	0.186	0.28860	T	0.066	0.26116	B	0.01	0.19966	B	0.000148	0.49130	N	0.217301	0.99043	0.41774	D	0.485	0.13215	N	0.2	0.68329	T	.	.	.	0.093	0.16308	-1.0412	0.16951	T	0.086	0.33522	T	10	0.003341049	0.00058	T	0.013439	0.32845	T	0.036	0.09122	.	.	0.434160288164	0.43035	0.6621810322012781	0.66155	0.861703014694	0.68993	0.293593078852	0.09449	T	0.016855	0.13851	T	-0.504587	0.00539	T	-0.500631	0.22282	T	0.0272328357487026	0.01577	T	0.847115	0.52772	T	0.055065364	0.10651	0.04435256	0.05729	0.055065364	0.10650	0.04435256	0.05728	-4.316	0.28400	T	.	.	0.176	0.38462	B	.;.	.;.	1.876110	0.23830	16.17	0.9670629043199368	0.30795	0.05600	0.11505	N	AEFBI	0.070855	0.14081	N	-0.613046999935828	0.18551	0.9640484	-0.530462593776473	0.21327	1.153236	0.868652186960861	0.25369	0.549168	0.22868	0	0.588066	0.40923	0	0.618467	0.43123	0	0.616125	0.45549	0	.	.	5.96	2.21	0.27042	0.241000	0.17843	-0.212000	0.10844	0.599000	0.40250	0.230000	0.24643	0.000000	0.08366	0.996000	0.76049	0.0:0.6724:0.0:0.3276	7.571	0.27071	506	0.75555	Ankyrin repeat-containing domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	596.98	35	chr18	23601272	.	C	T	596.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.990e-01;DP=797;ExcessHet=0.0000;FS=0.818;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.56;ReadPosRankSum=0.382;SOR=0.587	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr18	23763459	23763459	G	A	exonic	LAMA3	.	nonsynonymous SNV	LAMA3:NM_001127717:exon8:c.G1118A:p.R373Q	Epidermolysis bullosa, generalized atrophic benign, Autosomal recessive;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Laryngoonychocutaneous syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.055	B	0.005	B	.	.	1.000	N	1.51	L	2.16	T	-0.962	T	0.035	T	0.105	0.981	9.003	-0.953	-0.185	0.127	7.226	0.033	0.00243974362847	.	.	3.312e-05	0	0	0	0	5.993e-05	0	0	2.59e-05	4	154602	rs367796914	8.893e-06	8.893e-06	8.168e-06	9.626e-06	6.708e-05	4.96e-06	3.82e-06	1.779e-05	8.93e-06	0	6.708e-05	0	5.039e-05	0	0	7.195e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.812	0.08310	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19311	T	-0.63	0.18459	N	0.222	0.24883	-0.9618	0.38839	T	0.035	0.15074	T	9	0.07467306	0.11443	T	0.00244	0.04813	T	0.033	0.08068	.	.	0.163833314356	0.15978	0.26600763636911473	0.26513	0.13986211965	0.15759	0.206470102072	0.00670	T	0.017	0.13819	T	-0.4627	0.00945	T	-0.705441	0.05533	T	0.0105730377171928	0.00147	T	0.165683	0.01531	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00625	B	.;.	.;.	0.676091	0.10444	7.165	0.90125033424185308	0.19405	0.03620	0.08858	N	AEFI	0.051982	0.09235	N	-1.06199573337805	0.07353	0.3413434	-1.05055309483164	0.08695	0.4288181	1.04621086296584E-4	0.05123	0.615465	0.37627	0	0.573888	0.26702	0	0.597571	0.31856	0	0.655142	0.61905	0	.	.	6.03	-0.953	0.09834	-0.028000	0.12299	-0.092000	0.12046	-0.102000	0.15922	0.000000	0.06391	0.000000	0.08366	0.982000	0.59238	0.4978:0.1183:0.384:0.0	7.226	0.25191	658	0.62094	.;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1143.98	38	chr18	23763459	.	G	A	1143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=837;ExcessHet=0.0000;FS=0.776;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=0.946;SOR=0.859	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1200	20	0	1	0
chr18	23847592	23847592	G	A	exonic	LAMA3	.	nonsynonymous SNV	LAMA3:NM_001127717:exon32:c.G4060A:p.E1354K	Epidermolysis bullosa, generalized atrophic benign, Autosomal recessive;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Laryngoonychocutaneous syndrome, Autosomal recessive	.	1	1507	14	0	0	14	0.00462351	.	.	780010	not_provided|LAMA3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.78	T	0.082	B	0.014	B	.	.	1.000	N	0.76	N	2.24	T	-0.981	T	0.028	T	0.216	2.540	14.45	1.23	0.702	3.119	8.246	0.061	0.0135499901705	0.0021	0.000399361	0.0025	0.0008	0.0010	0	0.0003	0.0038	0.0035	0.0012	0.002348	363	154602	rs34799994	0.0035	0.0035	0.0035	0.0034	0.0085	0.0034	0.0034	0.0066	0.0059	0.0008	0.0013	0.0084	0	0.0005	0.0085	0.0039	0.0031	0.0018	0.0022	0.0022	0.0022	0.0022	0.0034	0.0020	0.0019	0.0030	0.0029	0.0007	0	0.0022	0.0063	0	0.0003	0	0.0034	0.0024	0.0027	0.137	0.25979	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.24	0.18570	T	-2.78	0.58896	D	0.44	0.49420	-0.9808	0.34817	T	0.028	0.12014	T	9	0.006095499	0.00137	T	0.01355	0.33038	T	0.061	0.17616	.	.	0.156986980423	0.15292	0.4686230422512138	0.46781	0.143636218915	0.16218	0.35839933157	0.19152	T	0.056869	0.30409	T	-0.550399	0.00290	T	-0.563394	0.16058	T	0.0298882867621467	0.01973	T	0.808919	0.62654	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.11893	B	.;.;.	.;.;.	2.673468	0.34861	19.74	0.9964290394584121	0.76756	0.65359	0.32711	D	AEFDBHCI	0.205287	0.33165	N	-0.598979867708339	0.18976	0.9895446	-0.490797174565182	0.22405	1.216822	0.998968918113634	0.38084	0.615465	0.37627	0	0.547309	0.14657	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.54	1.23	0.20358	3.196000	0.50722	1.937000	0.29806	0.676000	0.76740	1.000000	0.71638	0.976000	0.30059	0.866000	0.41154	0.191:0.2273:0.5817:0.0	8.246	0.30851	589	0.68969	.;Laminin EGF domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1595.98	35	chr18	23847592	.	G	A	1595.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.71;DP=817;ExcessHet=0.0000;FS=1.476;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.76;ReadPosRankSum=-1.123e+00;SOR=0.553	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr18	23901136	23901136	G	A	exonic	LAMA3	.	nonsynonymous SNV	LAMA3:NM_001127718:exon10:c.G1019A:p.R340Q	Epidermolysis bullosa, generalized atrophic benign, Autosomal recessive;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Laryngoonychocutaneous syndrome, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	1929910	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.1	T	0.692	P	0.132	B	.	.	0.992	D	2.38	M	2.78	T	-1.077	T	0.030	T	0.179	2.078	12.90	1.88	0.124	1.016	9.856	0.099	0.0134280156378	.	0.000399361	0.0001	0	8.711e-05	0	0	7.521e-05	0	0.0005	0.0001164	18	154602	rs556381641	9.988e-05	0.0001	8.441e-05	0.0001	0.0005	8.646e-05	8.135e-05	0.0004	0.0004	0	0.0001	3.826e-05	0	0	0	7.735e-05	0.0001	0.0005	5.253e-05	5.25e-05	1.285e-05	9.399e-05	0.0014	2.555e-05	1.829e-05	0.0007	0.0005	0	0	0	0	0	0	0	1.47e-05	0	0.0014	0.052	0.39097	T	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	0.86307	0.41431	D	.	.	.	2.78	0.11298	T	-2.88	0.60507	D	0.079	0.13911	-1.0773	0.07881	T	0.030	0.12848	T	9	0.026670814	0.00829	T	0.013428	0.32827	T	0.099	0.28413	.	.	0.296679040009	0.29266	0.29560233306662514	0.29473	0.155856096555	0.17590	0.268794953823	0.05985	T	0.01988	0.15755	T	-0.4899	0.00651	T	-0.598753	0.12915	T	0.0654497147496634	0.07998	T	0.662834	0.39759	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.11749	B	.;.;.;.;.	.;.;.;.;.	2.214978	0.28262	17.74	0.994191929124009	0.63694	0.73210	0.35814	D	ALL	0.120950	0.23537	N	-0.367364449514171	0.26638	1.455388	-0.38283852467697	0.25509	1.403242	0.999999933588115	0.74766	0.616025	0.39624	0	0.574621	0.32753	0	0.550215	0.18615	0	0.548927	0.17530	0	.	.	5.76	1.88	0.24630	0.821000	0.26993	0.775000	0.21430	-0.106000	0.15538	0.995000	0.38783	0.019000	0.20708	0.682000	0.33600	0.2819:0.0:0.7181:0.0	9.856	0.40255	491	0.76657	.;Laminin alpha, domain I;.;Laminin alpha, domain I;Laminin alpha, domain I	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1060.98	34	chr18	23901136	.	G	A	1060.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.949;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=-1.324e+00;SOR=0.622	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1190	20	0	1	0
chr18	23909258	23909258	G	A	exonic	LAMA3	.	nonsynonymous SNV	LAMA3:NM_001127718:exon17:c.G2126A:p.R709Q	Epidermolysis bullosa, generalized atrophic benign, Autosomal recessive;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Laryngoonychocutaneous syndrome, Autosomal recessive	YES	0	1521	1	0	0	1	0.000328623	.	.	348001	Laryngo-onycho-cutaneous_syndrome|not_provided|Junctional_epidermolysis_bullosa_gravis_of_Herlitz	MONDO:MONDO:0009513,MedGen:C1328355,OMIM:245660,Orphanet:2407|MedGen:C3661900|MONDO:MONDO:0009182,MedGen:C0079683,OMIM:226700,Orphanet:79404	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.953	D	.	.	1.000	N	2.485	M	0.59	T	-0.524	T	0.384	T	0.446	4.386	23.2	5.6	2.625	4.349	19.605	0.340	0.0464289579677	.	0.000399361	0.0003	0	0	0	0	0	0	0.0022	0.0002523	39	154602	rs563440658	0.0001	0.0001	6.674e-05	0.0002	0.0018	0.0001	9.705e-05	0.0016	0.0015	0	0	0	2.519e-05	0	0.0002	3.597e-06	0.0002	0.0018	2.626e-05	2.625e-05	2.57e-05	2.685e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.006	0.65419	D	0.029	0.54541	D	.	.	.	.	.	.	.	.	.	.	0.999994	0.20333	N	.	.	.	0.59	0.53943	T	-3.34	0.69950	D	0.472	0.54496	-0.5243	0.67756	T	0.384	0.73966	T	9	0.046185613	0.03778	T	0.046429	0.62452	D	0.340	0.66202	0.728	0.86198	0.635186127309	0.63219	0.5489935122728699	0.54825	0.603108607063	0.55296	0.479193896055	0.35945	T	0.057494	0.30581	T	-0.336329	0.05646	T	-0.263154	0.48508	T	0.382135736717778	0.28265	T	0.944006	0.85028	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.46722	B	.;.;.;.;.	.;.;.;.;.	5.332575	0.89486	30	0.99947807795333632	0.99923	0.88283	0.48141	D	AEFGBI	0.569443	0.57422	D	0.625095736804934	0.74764	6.18875	0.551324384570346	0.71490	5.662669	0.999955006260487	0.48110	0.615465	0.37627	0	0.573888	0.26702	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.6	5.6	0.84997	4.504000	0.60135	8.665000	0.77987	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.605	0.95572	487	0.76954	.;Laminin domain II;.;Laminin domain II;Laminin domain II	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	921.98	111	chr18	23909258	.	G	A	921.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.590;DP=799;ExcessHet=0.0000;FS=2.547;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.31;ReadPosRankSum=0.949;SOR=0.476	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1251	20	0	1	0
chr18	23949813	23949813	G	C	exonic	LAMA3	.	nonsynonymous SNV	LAMA3:NM_001127718:exon33:c.G4405C:p.D1469H	Epidermolysis bullosa, generalized atrophic benign, Autosomal recessive;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Laryngoonychocutaneous syndrome, Autosomal recessive	YES	2	1511	8	1	0	10	0.00329815	.	.	879021	Laryngo-onycho-cutaneous_syndrome|not_provided|Junctional_epidermolysis_bullosa_gravis_of_Herlitz	MONDO:MONDO:0009513,MedGen:C1328355,OMIM:245660,Orphanet:2407|MedGen:C3661900|MONDO:MONDO:0009182,MedGen:C0079683,OMIM:226700,Orphanet:79404	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.26	T	0.999	D	0.937	D	.	.	0.964	N	1.635	L	-0.16	T	-0.753	T	0.303	T	0.39	3.092	16.33	0.86	-0.127	0.027	10.312	0.346	0.0355096385823	0.0006	0.000599042	0.0007	0.0002	8.637e-05	0	0	0.0011	0.0033	0.0007	0.000705	109	154602	rs139393524	0.0007	0.0007	0.0007	0.0007	0.0038	0.0006	0.0006	0.0026	0.0022	0.0004	0.0006	0.0009	5.038e-05	3.744e-05	0.0038	0.0007	0.0008	0.0007	0.0006	0.0006	0.0007	0.0006	0.0010	0.0005	0.0005	0.0008	0.0007	0.0001	0	0.0005	0.0014	0	0	0	0.0010	0.0024	0.0008	0.121	0.59928	T	0.028	0.55759	D	.	.	.	.	.	.	.	.	.	.	0.995249	0.26011	N	.	.	.	-0.16	0.65378	T	-2.22	0.49846	N	0.276	0.38643	-0.7526	0.57799	T	0.303	0.67409	T	9	0.03188944	0.01331	T	0.03551	0.56390	D	0.346	0.66769	.	.	0.616529249647	0.61343	0.7277504356948739	0.72719	0.572525695287	0.53339	0.339538484812	0.16368	T	0.030009	0.21373	T	-0.322771	0.06674	T	-0.292763	0.45485	T	0.0319072349219408	0.02290	T	0.878012	0.59262	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.53087	B	.;.;.;.;.	.;.;.;.;.	2.779719	0.36511	20.3	0.99001969870391482	0.50168	0.70410	0.34579	D	AEFDBCI	0.315249	0.41988	N	0.0229069999696321	0.42897	2.593477	-0.0874878041871289	0.35907	2.082989	0.964077858684368	0.28734	0.638212	0.43195	0	0.588066	0.40923	0	0.735289	0.94003	0	0.668105	0.65232	0	.	.	5.69	0.86	0.18179	0.234000	0.17708	1.329000	0.25656	0.676000	0.76740	0.994000	0.38300	1.000000	0.68203	0.993000	0.69303	0.5005:0.0:0.4995:0.0	10.312	0.42898	528	0.73785	.;Laminin G domain|Laminin G domain|Laminin G domain;.;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	970.98	35	chr18	23949813	.	G	C	970.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.64;DP=789;ExcessHet=0.0000;FS=3.277;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=0.031;SOR=1.136	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	20	0	1	0
chr18	25226824	25226824	A	C	exonic	ZNF521	.	nonsynonymous SNV	ZNF521:NM_001308225:exon3:c.T434G:p.V145G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.695	P	0.573	P	0.000	D	1.000	D	0.345	N	2.94	T	-0.977	T	0.030	T	0.884	1.535	11.09	6.17	2.371	8.962	16.822	0.335	0.0135202849145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.019	0.92824	D	0.695	0.41722	P	0.573	0.49966	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.525	0.38595	L	2.94	0.09728	T	-1.53	0.37178	N	0.692	0.72567	-0.9773	0.35616	T	0.030	0.12892	T	10	0.47668222	0.60185	T	0.01352	0.32986	T	0.335	0.65718	0.263	0.20788	0.187035705434	0.18338	0.4545498299786772	0.45372	1.22420468521	0.81160	0.805925130844	0.82866	D	0.200397	0.55797	T	0.175278	0.71608	D	0.0139978	0.71241	D	0.714181244373322	0.41406	D	0.940706	0.80370	D	0.48315653	0.66091	0.38600904	0.63504	0.48315653	0.66092	0.38600904	0.63504	-3.876	0.21943	T	.	.	0.571	0.76929	P	.;.;.	.;.;.	4.794367	0.77832	26.8	0.94618517603613461	0.25195	0.99159	0.92098	D	AEFBI	0.953510	0.96986	D	0.395754100277923	0.61191	4.316972	0.543447810257837	0.70943	5.580135	0.999999999999788	0.74766	0.67177	0.52595	0	0.59043	0.45803	0	0.608884	0.39905	0	0.711	0.71501	0	.	.	6.17	6.17	0.99707	8.947000	0.92735	11.314000	0.92500	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.822	0.85699	899	0.25060	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2134.98	36	chr18	25226824	.	A	C	2134.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.85;DP=985;ExcessHet=0.0000;FS=3.468;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=-7.240e-01;SOR=0.832	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr18	26035893	26035893	G	A	exonic	SS18	.	nonsynonymous SNV	SS18:NM_001007559:exon8:c.C911T:p.S304L	Sarcoma, synovial (1)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.995	D	0.83	P	0.008	N	1.000	D	1.32	L	1.14	T	-0.886	T	0.188	T	0.586	4.637	25.4	5.76	2.724	8.608	19.975	0.250	0.0193514279172	.	.	1.439e-05	0	0	0	0	2.915e-05	0	0	3.84e-05	1	26028	rs745407303	4.831e-06	5.472e-06	2.742e-06	6.949e-06	4.566e-05	2.01e-06	1.29e-06	7.57e-06	2.83e-06	0	4.566e-05	0	0	0	0	3.622e-06	1.674e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.39334	T	0.068	0.44106	T	0.995	0.67487	D	0.83	0.59611	P	0.007923	0.31115	N	0.307172	0.999956	0.81001	D	1.73	0.44655	L	1.14	0.38397	T	-3.33	0.66206	D	0.701	0.71232	-0.8860	0.49273	T	0.188	0.53886	T	10	0.5772234	0.65648	D	0.019351	0.41689	T	0.250	0.55888	0.257	0.19845	0.0934897674506	0.08844	0.4660718341775758	0.46526	0.465419091298	0.45979	0.752168536186	0.74767	T	0.667403	0.90089	D	-0.00522792	0.50931	T	-0.245286	0.50282	T	0.841705083847046	0.49467	D	0.987176	0.95613	D	0.17736745	0.38699	0.21592529	0.46200	0.17736745	0.38699	0.21592529	0.46199	-9.159	0.68714	D	.	.	0.201	0.47600	B	.;.	.;.	5.908426	0.94025	33	0.99901532448677277	0.97350	0.99129	0.91652	D	AEFGBI	0.874818	0.79789	D	0.727350128097583	0.81423	7.519189	0.770549816648691	0.87681	9.307392	0.999999999998221	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.662677	0.59975	0	0.714379	0.83352	0	.	.	5.76	5.76	0.90726	8.729000	0.91217	11.902000	0.99384	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.975	0.97301	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	547.98	38	chr18	26035893	.	G	A	547.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.000e-02;DP=757;ExcessHet=0.0000;FS=2.121;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.98;ReadPosRankSum=1.55;SOR=0.461	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1196	20	0	1	0
chr18	26057676	26057676	G	A	exonic	SS18	.	nonsynonymous SNV	SS18:NM_001007559:exon4:c.C298T:p.R100C	Sarcoma, synovial (1)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.999	D	0.818	P	0.000	D	1.000	D	0.69	N	1.44	T	-1.029	T	0.122	T	0.633	2.448	14.15	5.32	2.773	9.242	19.198	0.200	0.013112774546	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149811250	2.052e-06	2.052e-06	4.084e-06	0	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.656e-05	0	1.972e-05	1.97e-05	2.57e-05	1.345e-05	0.0001	5.24e-06	2.45e-06	2.261e-05	9.07e-06	2.414e-05	0	0.0001	0	0	0	0	0	0	0	0.003	0.72154	D	0.055	0.47336	T	0.999	0.77913	D	0.818	0.58969	P	0.000002	0.62929	D	0.107658	1	0.81001	D	1.1	0.28011	L	1.44	0.32722	T	-2.21	0.52289	N	0.683	0.70263	-1.0293	0.20681	T	0.122	0.42314	T	10	0.331862	0.50401	T	0.013113	0.32253	T	0.200	0.48430	.	.	0.0934897674506	0.08844	0.3101445041467752	0.30927	0.865720568616	0.69199	0.450907945633	0.32068	T	0.336766	0.70623	T	0.0281117	0.55472	T	-0.197396	0.54894	T	0.891956269741058	0.54298	D	0.954105	0.82551	D	0.26368293	0.49434	0.21599853	0.46211	0.26368293	0.49434	0.21599853	0.46210	-2.752	0.07955	T	.	.	0.175	0.38300	B	.;.;.;.;.	.;.;.;.;.	5.714926	0.93194	33	0.98036028320958046	0.37751	0.97212	0.73352	D	AEFDBCIJ	0.970195	0.99249	D	0.531763577098098	0.68978	5.292353	0.60079880982415	0.74997	6.233415	1.0	0.98316	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	9.602000	0.97623	11.832000	0.97554	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.784000	0.37066	0.0:0.0:1.0:0.0	19.198	0.93684	954	0.10045	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	870.98	34	chr18	26057676	.	G	A	870.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.449;DP=783;ExcessHet=0.0000;FS=4.029;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.37;ReadPosRankSum=0.700;SOR=1.179	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1168	20	0	1	0
chr18	26862319	26862319	T	C	exonic	AQP4	.	nonsynonymous SNV	AQP4:NM_004028:exon1:c.A244G:p.M82V	.	.	.	.	.	.	.	.	.	.	.	2300625	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.745	P	0.186	B	0.000	D	1.000	D	1.18	L	-3.1	D	0.344	D	0.621	D	0.924	2.583	14.60	5.57	2.111	5.858	15.726	0.757	0.100736450315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.03	0.54541	D	0.745	0.43117	P	0.186	0.36104	B	0.000000	0.84330	D	0.070847	1	0.81001	D	1.505	0.38159	L	-3.1	0.92667	D	-2.02	0.46503	N	0.892	0.89131	0.344	0.88247	D	0.621	0.86655	D	10	0.81390727	0.80648	D	0.100736	0.77320	D	0.757	0.91710	0.66	0.79791	0.954308010382	0.95382	0.8559068910614501	0.85553	0.316271458439	0.33892	0.694396734238	0.66337	T	0.664132	0.89956	D	0.412431	0.90615	D	0.354652	0.90498	D	0.955891966819763	0.64621	D	0.89721	0.64041	D	0.5982942	0.72599	0.42119926	0.66059	0.5982942	0.72600	0.42119926	0.66060	-8.765	0.66992	D	0.5398990033949932	0.60968	0.331	0.58837	B	.;.;.;.	.;.;.;.	4.155447	0.62368	24.4	0.97734037623051107	0.35640	0.97220	0.73400	D	AEFGBI	0.881770	0.80938	D	0.287732454400891	0.55527	3.716669	0.398370267482019	0.61463	4.34686	0.999999996746681	0.74766	0.549168	0.22868	0	0.563428	0.19063	0	0.590023	0.30420	0	0.564101	0.26826	0	.	.	5.57	5.57	0.84021	5.836000	0.69081	5.091000	0.47354	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	15.726	0.77519	973	0.05605	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1747.98	42	chr18	26862319	.	T	C	1747.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.945e+00;DP=868;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=-1.430e+00;SOR=0.694	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1164	20	0	1	0
chr18	26917075	26917075	C	A	exonic	CHST9	.	nonsynonymous SNV	CHST9:NM_031422:exon6:c.G516T:p.E172D,	.	.	438	1068	15	1	0	17	0.00789596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.89	T	0.0	B	0.0	B	0.007	N	1.000	N	-1.04	N	-0.1	T	-1.025	T	0.035	T	0.033	-1.575	0.014	-0.787	-0.656	0.878	3.259	0.043	.	0.0019	0.00299521	0.0028	0.0001	0.0009	0.0001	0.0057	0.0026	0.0067	0.0066	0.0026843	415	154602	rs149359030	0.0022	0.0022	0.0021	0.0024	0.0063	0.0022	0.0022	0.0058	0.0057	0.0003	0.0010	0.0077	2.52e-05	0.0084	0.0050	0.0017	0.0021	0.0063	0.0026	0.0026	0.0023	0.0028	0.0070	0.0023	0.0023	0.0052	0.0045	0.0002	0	0.0008	0.0092	0.0002	0.0093	0.0034	0.0029	0.0043	0.0070	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.006679	0.31877	N	0.310484	1	0.08975	N	-1.75	0.00322	N	-0.1	0.64264	T	.	.	.	0.022	0.00571	-1.0246	0.22214	T	0.035	0.15030	T	10	0.0025432706	0.00038	T	.	.	.	.	.	0.414	0.45216	0.314417295294	0.31040	0.28074191338002796	0.27987	.	.	0.318222284317	0.13151	T	0.060103	0.31295	T	-0.60998	0.00127	T	-0.646081	0.09231	T	0.000571501802799079	0.00005	T	0.059594	0.00430	T	0.045573115	0.07481	0.038288143	0.03666	0.045573115	0.07481	0.038288143	0.03665	-5.204	0.38982	T	.	.	0.070	0.03736	B	.;.	.;.	0.330550	0.07045	3.610	0.7634190321159201	0.11429	0.01120	0.04086	N	AEFBHCI	0.032658	0.03729	N	-1.3980929535488	0.02656	0.1176084	-1.27057911160516	0.04833	0.2289488	0.963894131438598	0.28722	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	6.16	-0.787	0.10391	0.252000	0.18046	0.066000	0.14196	-0.043000	0.17390	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.4943:0.2759:0.1388:0.0911	3.259	0.06438	931	0.16308	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2964.98	39	chr18	26917075	.	C	A	2964.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.940e-01;DP=923;ExcessHet=0.0000;FS=4.513;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=0.177;SOR=0.800	GT:AD:DP:GQ:PL	0/1:114,114:228:99:2979,0,2948	20	0	1	0
chr18	31008467	31008467	G	A	exonic	DSC3	.	nonsynonymous SNV	DSC3:NM_001941:exon10:c.C1322T:p.A441V	.	.	0	1517	4	1	0	6	0.00197368	.	.	3244704	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.38	T	0.208	B	0.102	B	0.086	N	0.596	D	1.705	L	1.14	T	-1.050	T	0.058	T	0.07	0.270	5.461	-2.43	-0.608	-0.744	3.337	0.040	0.00582004707971	7.7e-05	.	0.0002	9.61e-05	0.0002	0.0001	0	0.0001	0	0.0007	0.0001552	24	154602	rs148206392	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	0.0001	0.0010	0.0009	5.974e-05	0.0001	0	0	0	0.0002	9.712e-05	8.279e-05	0.0012	6.574e-05	6.568e-05	7.71e-05	5.384e-05	0.0004	3.518e-05	2.618e-05	7.29e-05	3.029e-05	2.414e-05	0	0	0	0	0	0	7.35e-05	0.0010	0.0004	0.156	0.24090	T	0.199	0.42614	T	0.014	0.29916	B	0.045	0.30857	B	0.085775	0.20623	N	0.251445	0.595808	0.32495	D	0.935	0.23595	L	1.14	0.38397	T	-2.75	0.60665	D	0.148	0.17828	-1.0503	0.14313	T	0.058	0.24354	T	10	0.04462415	0.03441	T	0.00582	0.15131	T	0.040	0.10527	.	.	0.409937222855	0.40610	0.4818951796779853	0.48109	0.0390414745784	0.04153	0.310805082321	0.12028	T	0.158319	0.50129	T	-0.605425	0.00135	T	-0.692869	0.06224	T	0.0141876776715411	0.00279	T	0.721628	0.34357	T	0.057401687	0.11417	0.1019169	0.24411	0.052300792	0.09734	0.100260064	0.23966	-7.667	0.58778	D	.	.	0.077	0.06617	B	.;.	.;.	-0.013025	0.04192	1.019	0.88551949544905084	0.18066	0.03171	0.08147	N	AEFBI	0.051271	0.09043	N	-1.48100215101884	0.01984	0.08714321	-1.54736575667985	0.01994	0.09110107	0.00504880602106957	0.10808	0.549168	0.22868	0	0.627178	0.54094	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.34	-2.43	0.06145	-0.305000	0.08227	-0.015000	0.13005	-1.462000	0.01081	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.4766:0.1015:0.307:0.1148	3.337	0.06690	848	0.35897	Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1752.98	35	chr18	31008467	.	G	A	1752.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.270;DP=840;ExcessHet=0.0000;FS=0.659;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=1.00;SOR=0.794	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1291	20	0	1	0
chr18	31086611	31086611	C	T	exonic	DSC2	.	nonsynonymous SNV	DSC2:NM_004949:exon7:c.G907A:p.V303M	Arrhythmogenic right ventricular dysplasia 11, Autosomal recessive, Autosomal dominant;Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, Autosomal recessive, Autosomal dominant	.	0	1506	15	1	0	17	0.00561241	.	.	55367	not_provided|Cardiovascular_phenotype|not_specified|Arrhythmogenic_right_ventricular_dysplasia_11|Cardiomyopathy	MedGen:C3661900|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0012506,MedGen:C1864850,OMIM:610476|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.99	D	0.796	P	.	.	0.861	N	2.145	M	0.62	T	-0.815	T	0.199	T	0.299	3.089	16.32	3.8	0.706	0.854	4.795	0.200	.	0.0002	0.00299521	0.0012	0	8.64e-05	0	0	0.0004	0	0.0073	0.0010931	169	154602	rs145560678	0.0006	0.0006	0.0004	0.0008	0.0065	0.0006	0.0006	0.0061	0.0059	0	8.944e-05	0	0.0002	0	0.0062	0.0003	0.0009	0.0065	0.0005	0.0005	0.0004	0.0006	0.0079	0.0004	0.0004	0.0059	0.0052	2.406e-05	0	0.0003	0	0	0	0.0136	0.0004	0.0005	0.0079	0.014	0.53172	D	0.035	0.52389	D	0.99	0.63424	D	0.796	0.58006	P	.	.	.	.	0.860661	0.28360	N	2.57	0.75187	M	0.62	0.53302	T	-2.53	0.54864	D	0.334	0.37509	-0.8147	0.54263	T	0.199	0.55485	T	9	0.011647344	0.00254	T	.	.	.	0.200	0.48430	.	.	0.582828786496	0.57955	0.4682476576227785	0.46743	0.272612617038	0.29765	0.442356407642	0.30899	T	0.107909	0.42050	T	-0.428186	0.01520	T	-0.38439	0.35209	T	0.0671591548802075	0.08247	T	0.886711	0.62748	D	0.25397187	0.48422	0.22816357	0.47849	0.15264723	0.34641	0.26064792	0.51830	-5.513	0.42110	T	0.6873178471594483	0.76456	0.143	0.31355	B	.;.;.	.;.;.	3.459069	0.48208	22.6	0.99877424224254485	0.95410	0.15360	0.18873	N	AEFGBI	0.098859	0.19911	N	0.178683130312862	0.50175	3.210198	0.0890087908569607	0.43994	2.689829	0.760416309876792	0.23501	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.61	3.8	0.42887	0.758000	0.26113	1.802000	0.28890	0.599000	0.40250	0.018000	0.19461	0.928000	0.28476	0.900000	0.43643	0.3051:0.5373:0.0:0.1576	4.795	0.12637	810	0.42761	Cadherin-like|Cadherin-like;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.07143	3001.68	78	chr18	31086611	.	C	T	3001.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.209;DP=873;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.91;ReadPosRankSum=-1.320e-01;SOR=0.723	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1263	18	0	3	0
chr18	31159496	31159496	C	T	exonic	DSC1	.	nonsynonymous SNV	DSC1:NM_004948:exon2:c.G97A:p.V33I	.	.	442	1076	4	0	0	4	0.00185529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.001	B	0.002	B	0.995	N	0.753	D	0.61	N	0.12	T	-0.965	T	0.109	T	0.042	0.678	7.627	1.49	0.465	1.658	6.556	0.090	0.00740782750483	.	0.000599042	0.0005	0	0	0.0001	0	0.0002	0	0.0029	0.000401	62	154602	rs191709242	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0	0	0	0	0	0.0005	6.845e-05	0.0002	0.0027	6.085e-05	5.991e-05	1.312e-05	0.0001	0.0011	3.158e-05	2.368e-05	0.0004	0.0003	0	0	0	0	0	0	0	5.937e-05	0	0.0011	0.226	0.18626	T	0.167	0.31629	T	0.0	0.02946	B	0.002	0.06944	B	0.995469	0.08001	N	0.997463	0.753461	0.33955	D	0.32	0.10341	N	0.12	0.61089	T	-0.55	0.17003	N	0.125	0.13626	-0.9647	0.38270	T	0.109	0.39415	T	10	0.011830658	0.00257	T	0.007408	0.19657	T	0.090	0.26093	.	.	0.436132833422	0.43236	0.27312036189837896	0.27225	0.0533693902352	0.05882	0.414091557264	0.27023	T	0.01836	0.14816	T	-0.585379	0.00179	T	-0.618248	0.11323	T	0.0146028661410571	0.00300	T	0.624238	0.24084	T	0.02819925	0.02122	0.042945605	0.05231	0.02819925	0.02121	0.042945605	0.05230	-4.612	0.32794	T	.	.	0.069	0.03197	B	.;.	.;.	1.549101	0.19855	14.47	0.91706913990164152	0.21001	0.06167	0.12150	N	AEFDI	0.030741	0.03152	N	-0.716297425123861	0.15564	0.7854532	-0.596186507646444	0.19591	1.051839	0.013008364281724	0.12403	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.5	1.49	0.21966	1.906000	0.39518	0.180000	0.15620	-0.114000	0.14653	1.000000	0.71638	0.993000	0.31925	0.970000	0.54328	0.0:0.4463:0.0:0.5537	6.556	0.21658	594	0.68584	Cadherin prodomain|Cadherin prodomain;Cadherin prodomain|Cadherin prodomain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1771.98	33	chr18	31159496	.	C	T	1771.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.011e+00;DP=847;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.53;ReadPosRankSum=-9.240e-01;SOR=0.666	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,114,1552	20	0	1	0
chr18	31354330	31354330	C	T	exonic	DSG1	.	nonsynonymous SNV	DSG1:NM_001942:exon15:c.C2134T:p.R712C,	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, Autosomal recessive;Keratosis palmoplantaris striata I, AD, Autosomal dominant	.	1	1519	2	0	0	2	0.000657895	.	.	715931	DSG1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	D	1.000	D	1.87	L	-1.06	T	0.193	D	0.587	D	0.924	2.583	14.60	5.1	2.873	3.324	17.227	0.551	0.055254717874	0.0005	0.00119808	0.0017	0.0007	0.0095	0.0040	0.0005	0.0006	0	0.0006	0.0015459	239	154602	rs149191001	0.0011	0.0011	0.0012	0.0010	0.0080	0.0011	0.0011	0.0073	0.0071	0.0003	0.0080	3.826e-05	0.0026	0.0006	0.0005	0.0009	0.0008	0.0007	0.0012	0.0012	0.0011	0.0012	0.0043	0.0010	0.0010	0.0029	0.0024	0.0005	0	0.0031	0	0.0043	0.0012	0	0.0010	0.0019	0.0004	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000004	0.62929	D	0.000000	0.999993	0.58761	D	2.285	0.65182	M	-1.06	0.76819	T	-5.6	0.86608	D	0.594	0.80572	0.193	0.85781	D	0.587	0.85184	D	10	0.011037976	0.00243	T	0.055255	0.66166	D	0.551	0.81427	.	.	0.925294171032	0.92453	0.6892350143534115	0.68863	0.488873001158	0.47673	0.676832437515	0.63816	T	0.214893	0.57661	T	0.0217508	0.54617	T	0.265148	0.86335	D	0.0434598145851397	0.04322	T	0.933007	0.74900	D	0.79619676	0.83664	0.7688245	0.86348	0.8042928	0.84183	0.76486576	0.86111	-7.291	0.56131	T	0.5462089648290672	0.61530	0.355	0.56895	A	.;.	.;.	5.270927	0.88506	29.6	0.9718009208284738	0.32718	0.90315	0.51393	D	AEFBI	0.493909	0.52993	N	0.70649537951855	0.80060	7.210943	0.705178510884434	0.82773	7.850554	0.999718568556344	0.42101	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.04	5.1	0.68917	3.349000	0.51931	6.069000	0.53240	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	1.000000	0.97212	0.1875:0.8125:0.0:0.0	17.227	0.86856	527	0.73864	Cadherin, cytoplasmic domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1503.98	33	chr18	31354330	.	C	T	1503.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.691;DP=790;ExcessHet=0.0000;FS=1.710;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.89;ReadPosRankSum=-7.200e-02;SOR=0.964	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1250	20	0	1	0
chr18	31388386	31388386	C	T	exonic	DSG4	.	nonsynonymous SNV	DSG4:NM_001134453:exon4:c.C236T:p.S79L	Hypotrichosis 6, Autosomal recessive	.	1	1486	35	0	0	35	0.0116395	.	.	715937	not_provided|DSG4-related_disorder|Hypotrichosis_6	MedGen:C3661900|.|MONDO:MONDO:0011932,MedGen:C1842839,OMIM:607903,Orphanet:55654	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	0.054	B	0.046	B	0.727	N	1.000	N	1.28	L	0.74	T	-0.961	T	0.073	T	0.083	-0.082	3.600	-1.72	-0.177	-0.768	6.536	0.010	.	0.0048	0.00439297	0.0042	0.0046	0.0027	0	0	0.0051	0.0044	0.0053	0.0040297	623	154602	rs36040686	0.0032	0.0032	0.0030	0.0033	0.0191	0.0031	0.0031	0.0162	0.0151	0.0050	0.0033	0.0436	0	0.0003	0.0191	0.0020	0.0065	0.0048	0.0038	0.0038	0.0039	0.0037	0.0060	0.0035	0.0034	0.0043	0.0037	0.0031	0	0.0042	0.0542	0	0.0004	0.0340	0.0021	0.0057	0.0060	0.264	0.16358	T	0.155	0.31936	T	0.054	0.22658	B	0.046	0.24676	B	0.727362	0.06349	N	1.212930	0.999999	0.08975	N	0.915	0.23335	L	0.74	0.50459	T	-1.75	0.41428	N	0.107	0.10340	-0.9614	0.38916	T	0.073	0.29675	T	10	0.0033466518	0.00058	T	.	.	.	0.010	0.01040	.	.	0.276898752692	0.27294	0.13389012196261588	0.13313	0.029762402894	0.03065	0.298493921757	0.10177	T	0.108723	0.42200	T	-0.647278	0.00075	T	-0.698542	0.05906	T	0.00208938657306135	0.00022	T	0.162684	0.01721	T	0.038331885	0.05086	0.049947403	0.07739	0.03988346	0.05589	0.039548468	0.04072	-2.372	0.04964	T	.	.	0.072	0.07224	B	.;.	.;.	-0.453279	0.02022	0.181	0.92623994699646028	0.22094	0.01138	0.04130	N	AEFI	0.026801	0.02075	N	-1.0116172173723	0.08362	0.3917972	-1.0389198890453	0.08939	0.4420613	0.00372337501722856	0.10253	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.73	-1.72	0.07671	-1.225000	0.03066	-3.198000	0.02978	-0.850000	0.02721	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.1368:0.358:0.0:0.5052	6.536	0.21550	643	0.63827	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2049.11	39	chr18	31388386	.	C	T	2049.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.76;DP=888;ExcessHet=0.1072;FS=4.314;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.31;ReadPosRankSum=1.23;SOR=1.023	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	19	0	2	0
chr18	31399464	31399464	G	A	exonic	DSG4	.	nonsynonymous SNV	DSG4:NM_001134453:exon9:c.G1198A:p.G400R	Hypotrichosis 6, Autosomal recessive	.	0	1484	38	0	0	38	0.0126414	.	.	576181	Hypotrichosis_6|not_provided|DSG4-related_disorder	MONDO:MONDO:0011932,MedGen:C1842839,OMIM:607903,Orphanet:55654|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.52	T	1.0	D	0.992	D	0.077	N	0.940	D	1.06	L	0.35	T	-0.826	T	0.188	T	0.848	1.657	11.50	5.33	2.649	3.133	12.717	0.179	.	0.0050	0.00439297	0.0043	0.0046	0.0027	0	0	0.0052	0.0044	0.0058	0.0040685	629	154602	rs35378785	0.0033	0.0033	0.0031	0.0034	0.0203	0.0032	0.0032	0.0173	0.0162	0.0051	0.0033	0.0435	0	0.0003	0.0203	0.0021	0.0067	0.0055	0.0039	0.0039	0.0039	0.0039	0.0068	0.0036	0.0035	0.0050	0.0044	0.0031	0	0.0042	0.0541	0	0.0004	0.0408	0.0022	0.0057	0.0068	0.74	0.03696	T	0.19	0.28860	T	0.531	0.90584	P	0.247	0.80445	B	0.077327	0.21110	N	0.246143	0.939708	0.37270	D	0.495	0.13372	N	0.35	0.59037	T	-0.51	0.15986	N	0.689	0.69474	-0.8261	0.53550	T	0.188	0.53827	T	10	0.0041315258	0.00081	T	.	.	.	0.179	0.44899	0.414	0.45216	0.800236202846	0.79837	0.3010113199831233	0.30014	0.252222878455	0.27793	0.465308904648	0.34037	T	0.102842	0.41094	T	-0.180223	0.23702	T	-0.0276499	0.68524	D	0.0494035485741406	0.05395	T	0.692831	0.31596	T	0.10689115	0.25275	0.13068023	0.31396	0.097276576	0.22927	0.090244345	0.21151	-7.606	0.58353	D	.	.	0.346	0.56311	A	.;.	.;.	2.539861	0.32855	19.17	0.9951036776297365	0.68618	0.73441	0.35924	D	AEFDGBCI	0.203974	0.33044	N	0.267983728041288	0.54534	3.618692	0.339373258754207	0.57870	3.954535	0.999999994021206	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.33	5.33	0.75683	3.309000	0.51613	2.699000	0.34147	0.676000	0.76740	0.291000	0.25242	1.000000	0.68203	0.979000	0.57723	0.0758:0.0:0.9242:0.0	12.717	0.56492	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4946.11	33	chr18	31399464	.	G	A	4946.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.050e-01;DP=1063;ExcessHet=0.1072;FS=2.654;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=-1.356e+00;SOR=0.837	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1271	19	0	2	0
chr18	31399465	31399465	G	A	exonic	DSG4	.	nonsynonymous SNV	DSG4:NM_001134453:exon9:c.G1199A:p.G400E	Hypotrichosis 6, Autosomal recessive	.	0	1518	3	1	0	5	0.0016442	.	.	879121	Hypotrichosis_6	MONDO:MONDO:0011932,MedGen:C1842839,OMIM:607903,Orphanet:55654	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.6	T	1.0	D	0.988	D	0.077	N	0.963	D	0.51	N	0.39	T	-0.880	T	0.202	T	0.849	2.529	14.42	5.33	2.649	4.029	10.358	0.204	0.0101279722829	7.7e-05	0.000199681	0.0002	0	8.643e-05	0	0	0.0002	0	0.0007	0.0001876	29	154602	rs201015162	0.0001	0.0001	0.0001	0.0002	0.0012	0.0001	0.0001	0.0006	0.0004	2.987e-05	6.708e-05	0	0	0	0.0012	0.0001	0.0002	0.0006	0.0001	0.0001	7.711e-05	0.0002	0.0002	7.574e-05	6.279e-05	9.05e-05	7.014e-05	4.813e-05	0	6.542e-05	0	0	0	0.0068	0.0002	0.0005	0.0002	0.509	0.11844	T	0.113	0.37589	T	0.987	0.90584	D	0.831	0.77976	P	0.077327	0.21110	N	0.246143	0.962794	0.38311	D	1.435	0.35949	L	0.39	0.58468	T	-0.96	0.25551	N	0.68	0.68690	-0.8803	0.49738	T	0.202	0.55919	T	10	0.10718262	0.19898	T	0.010128	0.26302	T	0.204	0.49076	.	.	0.790148357072	0.78820	0.2606765246525065	0.25981	0.254955273701	0.28073	0.457174688578	0.32923	T	0.102522	0.41032	T	-0.0908568	0.37934	T	-0.0403255	0.67679	D	0.105596394695775	0.12961	T	0.718628	0.34357	T	0.072237395	0.16053	0.112210795	0.27073	0.072237395	0.16052	0.112210795	0.27072	-5.952	0.45926	T	.	.	0.186	0.40213	B	.;.	.;.	3.147838	0.42600	21.6	0.99579234334613587	0.72921	0.74519	0.36456	D	AEFDGBCI	0.248329	0.36875	N	0.367298458220998	0.59658	4.147158	0.417736763520896	0.62668	4.486316	0.999999976078281	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.33	5.33	0.75683	0.523000	0.22632	8.724000	0.78169	0.676000	0.76740	0.081000	0.22364	1.000000	0.68203	0.972000	0.54974	0.09:0.0:0.91:0.0	10.358	0.43158	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2617.98	33	chr18	31399465	.	G	A	2617.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.60;DP=922;ExcessHet=0.0000;FS=6.656;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=1.27;SOR=0.785	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1271	20	0	1	0
chr18	31403536	31403536	T	C	exonic	DSG4	.	nonsynonymous SNV	DSG4:NM_001134453:exon11:c.T1538C:p.I513T	Hypotrichosis 6, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.96	D	0.648	P	0.003	N	0.994	D	2.075	M	0.16	T	-0.446	T	0.285	T	0.887	2.862	15.53	6.01	2.299	5.759	16.194	0.412	0.0317486289488	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1268799287	6.841e-07	6.84e-07	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.076	0.42614	T	0.409	0.55278	B	0.186	0.52381	B	0.003192	0.35300	N	0.000000	0.994338	0.42244	D	3.295	0.90403	M	0.16	0.61559	T	-2.54	0.55025	D	0.827	0.82257	-0.4459	0.70535	T	0.285	0.65685	T	10	0.8883421	0.88169	D	0.031749	0.53753	D	0.412	0.72328	0.729	0.86286	0.889542543598	0.88845	0.6310040298728992	0.63034	0.262969208904	0.28858	0.589133024216	0.51371	T	0.509297	0.82619	D	0.158719	0.70083	D	0.159341	0.80765	D	0.861402153968811	0.51179	D	0.514049	0.16524	T	0.20720473	0.42918	0.26435527	0.52253	0.20720473	0.42918	0.26435527	0.52252	-6.822	0.52722	T	.	.	0.901	0.82843	P	.;.	.;.	2.681596	0.34985	19.78	0.99669756877955096	0.78523	0.85893	0.45080	D	AEFBHCI	0.484145	0.52429	N	0.302858886128297	0.56296	3.794029	0.307957034413979	0.56005	3.763563	0.999999999349267	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.01	6.01	0.97420	5.828000	0.68999	6.177000	0.54575	0.665000	0.62972	0.910000	0.31679	1.000000	0.68203	0.188000	0.21541	0.0:0.0:0.0:1.0	16.194	0.81828	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1089.98	34	chr18	31403536	.	T	C	1089.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.620e-01;DP=837;ExcessHet=0.0000;FS=4.178;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.13;ReadPosRankSum=-1.443e+00;SOR=0.569	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1239	20	0	1	0
chr18	31403566	31403566	C	T	exonic	DSG4	.	nonsynonymous SNV	DSG4:NM_001134453:exon11:c.C1568T:p.P523L	Hypotrichosis 6, Autosomal recessive	.	2	1440	77	3	0	83	0.0280121	.	.	237228	not_provided|Hypotrichosis_6	MedGen:C3661900|MONDO:MONDO:0011932,MedGen:C1842839,OMIM:607903,Orphanet:55654	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.004	N	1.000	D	2.78	M	-0.01	T	-0.061	T	0.425	T	0.524	3.626	18.45	6.01	2.850	5.579	20.125	0.436	.	0.0073	0.00798722	0.0086	0.0009	0.0049	0.0001	0.0014	0.0090	0.0099	0.0219	0.0083893	1297	154602	rs34620697	0.0073	0.0073	0.0067	0.0079	0.0193	0.0072	0.0071	0.0185	0.0182	0.0008	0.0053	0.0099	5.039e-05	0.0020	0.0180	0.0070	0.0083	0.0193	0.0054	0.0054	0.0055	0.0053	0.0197	0.0051	0.0050	0.0165	0.0153	0.0011	0.0154	0.0056	0.0101	0.0002	0.0012	0.0068	0.0077	0.0057	0.0197	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.998	0.92359	D	0.003957	0.34294	N	0.000000	1	0.81001	D	3.7	0.94612	H	-0.01	0.62762	T	-7.66	0.95511	D	0.672	0.67995	-0.0615	0.80961	T	0.425	0.76890	T	10	0.0106598735	0.00236	T	.	.	.	0.436	0.74093	.	.	0.927137678208	0.92639	0.652556277191424	0.65191	0.248225803681	0.27384	0.45504295826	0.32633	T	0.624655	0.88286	D	-0.2795	0.10720	T	-0.158002	0.58531	T	0.0894284915205194	0.11150	T	0.851115	0.53499	D	0.43418938	0.63025	0.5285101	0.72758	0.46111244	0.64740	0.5285101	0.72759	-7.308	0.56253	T	.	.	0.417	0.60533	A	.;.	.;.	4.483836	0.69979	25.5	0.99870903935111033	0.94815	0.88443	0.48373	D	AEFGBHCIJ	0.497987	0.53228	N	0.794065608974443	0.85734	8.665106	0.729373834982191	0.84610	8.339843	0.999999999997648	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.01	6.01	0.97420	4.117000	0.57623	5.930000	0.51304	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.287000	0.24188	0.0:1.0:0.0:0.0	20.125	0.97974	718	0.55760	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1359.98	34	chr18	31403566	.	C	T	1359.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.866;DP=850;ExcessHet=0.0000;FS=0.625;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.19;ReadPosRankSum=-1.036e+00;SOR=0.804	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1239	20	0	1	0
chr18	31469175	31469175	C	T	exonic	DSG3	.	nonsynonymous SNV	DSG3:NM_001944:exon12:c.C1723T:p.R575W,	.	.	431	1066	24	1	0	26	0.0120482	.	.	715941	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	0.952	P	0.339	B	0.420	N	1.000	N	0.69	N	0.26	T	-0.977	T	0.088	T	0.052	2.451	14.16	0.463	0.118	-0.080	5.601	0.118	.	0.0086	0.00459265	0.0067	0.0022	0.0028	0	0.0038	0.0082	0.0099	0.0105	0.0068304	1056	154602	rs61730311	0.0096	0.0096	0.0095	0.0096	0.0110	0.0094	0.0094	0.0106	0.0105	0.0015	0.0029	0.0047	0	0.0037	0.0081	0.0108	0.0087	0.0110	0.0061	0.0061	0.0065	0.0056	0.0116	0.0057	0.0056	0.0092	0.0087	0.0020	0	0.0054	0.0049	0	0.0026	0	0.0096	0.0024	0.0116	0.004	0.65419	D	0.017	0.60337	D	0.952	0.54136	P	0.339	0.42346	B	0.420484	0.04645	N	1.487420	1	0.08975	N	1.7	0.43825	L	0.26	0.59314	T	-2.05	0.47008	N	0.171	0.18239	-0.9773	0.35616	T	0.088	0.34078	T	10	0.015473664	0.00325	T	.	.	.	0.118	0.32913	.	.	0.688633057668	0.68596	0.5235609868025842	0.52280	0.114637252585	0.12932	0.196305915713	0.00357	T	0.298465	0.67102	T	-0.599532	0.00147	T	-0.621639	0.11057	T	0.017832634025567	0.00511	T	0.224178	0.02920	T	0.053436227	0.10111	0.04566627	0.06197	0.053436227	0.10111	0.04566627	0.06196	-9.348	0.69909	D	.	.	0.110	0.21087	B	.	.	1.612265	0.20598	14.82	0.9902769683644721	0.50721	0.09060	0.14890	N	AEFBCI	0.096551	0.19490	N	-0.694827379460152	0.16168	0.8213565	-0.80866395656276	0.14286	0.7456584	0.0610422171583938	0.15217	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.95	0.463	0.15912	-0.065000	0.11575	-0.343000	0.09801	-0.224000	0.07868	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.5361:0.3006:0.0:0.1633	5.601	0.16633	723	0.55174	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1729.98	39	chr18	31469175	.	C	T	1729.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.632;DP=892;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=0.770;SOR=0.659	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1620	20	0	1	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T,	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.85	M	-0.92	T	0.372	D	0.658	D	0.592	5.198	33	5.86	2.937	6.565	20.563	0.426	0.0891150511824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186896680	1.368e-06	1.368e-06	2.723e-06	0	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.995e-07	0	0	6.575e-06	6.568e-06	1.285e-05	0	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999817	0.49394	D	3.05	0.86762	M	-0.92	0.75108	T	-3.52	0.68412	D	0.56	0.58458	0.372	0.88677	D	0.658	0.88122	D	10	0.69900656	0.72324	D	0.089115	0.75265	D	0.426	0.73372	0.21	0.12781	0.956247277456	0.95578	0.9288824395156199	0.92866	0.414509619234	0.42131	0.434575915337	0.29834	T	0.621993	0.88164	D	0.0720377	0.61095	D	-0.051434	0.66924	D	0.993339002132416	0.84094	D	0.858914	0.54988	D	0.6406292	0.74865	0.679	0.81137	0.6406292	0.74866	0.679	0.81138	-8.715	0.65844	D	0.8609242873125713	0.92441	0.562	0.67302	A	.	.	4.707566	0.75589	26.4	0.99913393119932348	0.98238	0.99258	0.93561	D	AEFBI	0.734853	0.68086	D	0.925276561188041	0.92941	11.723	0.887186071652214	0.94988	13.21417	0.999999990424555	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	6.638000	0.74166	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.563	0.99337	702	0.57624	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.4762	4225.93	56	chr18	31541297	.	G	A	4225.93	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-4.940e-01;DP=1248;ExcessHet=43.6797;FS=377.368;InbreedingCoeff=-0.9302;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=3.76;ReadPosRankSum=0.537;SOR=12.605	GT:AD:DP:GQ:PL	0/1:34,27:61:99:225,0,545	1	0	20	0
chr18	31867448	31867448	G	A	exonic	TRAPPC8	.	nonsynonymous SNV	TRAPPC8:NM_014939:exon17:c.C2417T:p.A806V,	.	.	640	877	5	0	0	5	0.00284252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.006	B	0.009	B	0.000	D	1.000	D	0.895	L	3.04	T	-1.018	T	0.013	T	0.13	2.318	13.71	4.59	1.256	4.582	15.559	0.041	0.00587277349733	0.0043	0.00179712	0.0038	0.0011	0.0029	0	0.0008	0.0052	0.0035	0.0036	0.0035834	554	154602	rs141629139	0.0039	0.0041	0.0039	0.0040	0.0044	0.0038	0.0038	0.0041	0.0041	0.0008	0.0035	0.0112	0	0.0009	0.0044	0.0042	0.0039	0.0032	0.0031	0.0031	0.0034	0.0027	0.0047	0.0029	0.0028	0.0043	0.0041	0.0007	0	0.0031	0.0104	0	0.0013	0	0.0047	0.0038	0.0033	0.146	0.25055	T	0.077	0.42436	T	0.006	0.13644	B	0.009	0.14300	B	0.000078	0.52346	D	0.200016	0.993311	0.23734	N	1.1	0.28011	L	3.04	0.08810	T	-0.63	0.18459	N	0.142	0.26596	-1.0185	0.24204	T	0.013	0.05321	T	10	0.0060548484	0.00136	T	0.005873	0.15281	T	0.041	0.10877	.	.	0.043077524339	0.03247	0.4775419215765477	0.47674	0.128732705604	0.14513	0.338795661926	0.16257	T	0.001541	0.03111	T	-0.584936	0.00180	T	-0.610662	0.11931	T	0.0160695073281892	0.00386	T	0.814619	0.46840	T	0.04663078	0.07837	0.06567696	0.13346	0.04663078	0.07837	0.06567696	0.13345	-6.008	0.46347	T	.	.	0.126	0.26545	B	.;.	.;.	2.442223	0.31438	18.74	0.96286442619911283	0.29298	0.94393	0.61022	D	AEFBI	0.456113	0.50811	N	-0.212320295147216	0.32627	1.842122	-0.0158250763519943	0.39000	2.305845	0.977389764593027	0.29816	0.732398	0.92422	0	0.708844	0.79440	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.49	4.59	0.56297	4.663000	0.61226	5.033000	0.46843	-0.163000	0.11536	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.1388:0.8612:0.0	15.559	0.75969	772	0.48957	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	649.98	34	chr18	31867448	.	G	A	649.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.880e-01;DP=765;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=0.291;SOR=0.645	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1151	20	0	1	0
chr18	32192657	32192657	G	A	exonic	MEP1B	.	nonsynonymous SNV	MEP1B:NM_001308171:exon3:c.G94A:p.G32R	.	.	490	1030	2	0	0	2	0.000969932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.992	D	0.000	D	1.000	D	2.44	M	2.03	T	-0.920	T	0.155	T	0.588	3.623	18.43	5.42	2.533	7.310	17.979	0.283	0.0218401052029	.	.	3.314e-05	0.0001	0	0.0001	0	1.499e-05	0	6.058e-05	2.59e-05	4	154602	rs754005468	4.313e-05	4.378e-05	3.95e-05	4.678e-05	0.0002	3.445e-05	3.131e-05	2.996e-05	2.509e-05	5.98e-05	2.236e-05	0.0001	0	0	0.0002	3.779e-05	0.0001	6.96e-05	3.289e-05	3.284e-05	2.572e-05	4.041e-05	0.0002	1.262e-05	7.99e-06	8.01e-06	3e-06	4.831e-05	0	0	0.0006	0	0	0	0	0	0.0002	0.006	0.61437	D	0.013	0.63109	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.049335	0.999929	0.51308	D	3.36	0.91202	M	2.03	0.20959	T	-3.61	0.69477	D	0.832	0.91852	-0.9196	0.45608	T	0.155	0.48533	T	10	0.7622957	0.76438	D	0.02184	0.44662	T	0.283	0.60100	0.521	0.62368	0.680305041719	0.67758	0.799742484409743	0.79928	0.578456538044	0.53752	0.479656428099	0.36009	T	0.486445	0.81293	T	-0.144701	0.29145	T	-0.264102	0.48413	T	0.939750015735626	0.61147	D	0.930407	0.74231	D	0.5817905	0.71706	0.42563677	0.66366	0.5817905	0.71707	0.42563677	0.66366	-5.408	0.40996	T	.	.	0.443	0.61857	A	.;.	.;.	5.740207	0.93328	33	0.99912830244389261	0.98167	0.97317	0.73990	D	AEFBI	0.891619	0.82776	D	0.702985992963902	0.79829	7.160952	0.641875130514543	0.78006	6.790326	0.999815355406492	0.43459	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	7.851000	0.85233	11.658000	0.93956	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	17.979	0.89054	845	0.36510	Meprin peptidase domain;Meprin peptidase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1205.98	34	chr18	32192657	.	G	A	1205.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=819;ExcessHet=0.0000;FS=1.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.31;ReadPosRankSum=-6.150e-01;SOR=0.507	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1104	20	0	1	0
chr18	33224930	33224930	-	T	exonic	CCDC178	.	frameshift insertion	CCDC178:NM_001105528:exon17:c.1662dupA:p.L555Tfs*11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	3.42e-05	0	0	0	0	6.129e-05	0	0	2.59e-05	4	154602	rs765706382	2.575e-05	3.078e-05	2.396e-05	2.76e-05	3.61e-05	1.854e-05	1.636e-05	2.043e-05	1.773e-05	3.61e-05	0	0	0	0	0	2.88e-05	3.721e-05	1.617e-05	5.265e-05	5.255e-05	6.433e-05	4.043e-05	0.0001	2.561e-05	1.833e-05	5.846e-05	4.242e-05	0	0	0	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	268.94	26	chr18	33224930	.	G	GT	268.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.56;DP=710;ExcessHet=0.0000;FS=3.776;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.96;ReadPosRankSum=-1.293e+00;SOR=1.589	GT:AD:DP:GQ:PL	0/0:31,0:31:81:0,81,1215	20	0	1	0
chr18	33346276	33346276	A	G	exonic	CCDC178	.	nonsynonymous SNV	CCDC178:NM_001105528:exon9:c.T593C:p.I198T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.98	D	0.814	P	.	.	1.000	N	1.7	L	1.97	T	-0.776	T	0.248	T	0.491	-0.422	2.031	5.59	2.129	5.551	13.292	0.205	0.0261056520105	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.713e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.311	0.19660	T	0.902	0.59353	P	0.602	0.58796	P	.	.	.	.	0.999998	0.58761	D	2.295	0.65404	M	1.97	0.22881	T	-2.42	0.57275	N	0.698	0.70878	-0.7764	0.56504	T	0.248	0.61739	T	9	0.48777482	0.60810	T	0.026106	0.49041	D	0.205	0.49236	0.341	0.33302	0.298403945805	0.29456	0.05798785686706267	0.05739	0.140614320253	0.15858	0.639569044113	0.58502	T	0.054511	0.29746	T	-0.0764447	0.40293	T	-0.347584	0.39483	T	0.661568875744033	0.38965	D	0.761624	0.40735	T	0.15347572	0.34787	0.33184472	0.59039	0.15347572	0.34786	0.33184472	0.59039	-5.092	0.38646	T	.	.	0.518	0.70398	A	.;.;.;.;.;.	.;.;.;.;.;.	3.290769	0.45128	22.1	0.56288752279565435	0.05520	0.67819	0.33572	D	AEFI	0.590453	0.58694	D	0.165334724824278	0.49541	3.153272	0.0797987663951845	0.43535	2.653175	0.0172036423084352	0.12924	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.59	5.59	0.84677	5.915000	0.69704	11.043000	0.85201	0.756000	0.94297	0.890000	0.31197	1.000000	0.68203	0.007000	0.07825	1.0:0.0:0.0:0.0	13.292	0.59709	780	0.47616	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	41.98	73	chr18	33346276	.	A	G	41.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.821e+00;DP=1231;ExcessHet=0.0000;FS=114.255;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.71;ReadPosRankSum=1.56;SOR=9.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:52,6:58:66:0|1:33346275_A_G:0,66,1873:33346275	20	0	1	0
chr18	33740135	33740135	G	A	exonic	ASXL3	.	nonsynonymous SNV	ASXL3:NM_030632:exon11:c.G2731A:p.V911M,	Bainbridge-Ropers syndrome	.	9	1505	8	0	0	8	0.00265076	.	.	1252388	not_provided|ASXL3-related_disorder|Severe_feeding_difficulties-failure_to_thrive-microcephaly_due_to_ASXL3_deficiency_syndrome|not_specified	MedGen:C3661900|.|MONDO:MONDO:0014205,MedGen:C4750837,OMIM:615485,Orphanet:352577|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.12	T	0.022	B	0.006	B	0.859	N	1.000	N	0.895	L	2.4	T	-1.038	T	0.034	T	0.082	-0.228	2.900	3.2	1.484	0.492	10.063	0.044	0.00414219397153	0.0011	0.000399361	0.0009	0	0.0008	0	0	0.0009	0	0.0023	0.000815	126	154602	rs201107680	0.0009	0.0009	0.0008	0.0009	0.0076	0.0008	0.0008	0.0058	0.0052	0.0002	0.0012	0.0003	0	1.875e-05	0.0076	0.0008	0.0010	0.0020	0.0006	0.0006	0.0007	0.0005	0.0012	0.0005	0.0005	0.0008	0.0007	0.0002	0	0.0012	0	0	9.425e-05	0.0034	0.0008	0.0009	0.0008	0.004	0.65419	D	0.114	0.36765	T	0.022	0.18677	B	0.006	0.12133	B	0.859413	0.08906	N	0.935626	1	0.08975	N	2.52	0.73523	M	2.4	0.15608	T	-0.66	0.19085	N	0.053	0.02462	-1.0383	0.17832	T	0.034	0.14726	T	10	0.0068300962	0.00155	T	0.004142	0.09931	T	0.044	0.11924	.	.	0.168254554758	0.16434	0.17341051208610708	0.17261	0.111911538942	0.12625	0.390768885612	0.23778	T	0.022218	0.17168	T	-0.621238	0.00108	T	-0.670069	0.07604	T	0.0450771833429728	0.04615	T	0.735226	0.35154	T	0.087529466	0.20385	0.11015744	0.26557	0.074845865	0.16824	0.10652041	0.25627	-4.726	0.33718	T	0.17426073278346774	0.22121	0.079	0.07412	B	.;.	.;.	1.347485	0.17547	13.23	0.97372893830633722	0.33632	0.09828	0.15495	N	AEFGBI	0.099188	0.19971	N	-0.714570033915422	0.15612	0.7882748	-0.703443827380952	0.16875	0.8947361	0.112289546767599	0.16680	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.14	3.2	0.35826	0.509000	0.22414	2.010000	0.30161	0.676000	0.76740	0.012000	0.18695	0.015000	0.20450	0.796000	0.37562	0.0845:0.204:0.7116:0.0	10.063	0.41459	530	0.73653	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1887.98	33	chr18	33740135	.	G	A	1887.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.150;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.75;ReadPosRankSum=1.24;SOR=0.749	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1035	20	0	1	0
chr18	33746048	33746048	T	G	exonic	ASXL3	.	nonsynonymous SNV	ASXL3:NM_030632:exon12:c.T6200G:p.L2067R,	Bainbridge-Ropers syndrome	.	9	1502	10	1	0	12	0.00397878	.	.	215555	Severe_feeding_difficulties-failure_to_thrive-microcephaly_due_to_ASXL3_deficiency_syndrome|not_provided|ASXL3-related_disorder|not_specified	MONDO:MONDO:0014205,MedGen:C4750837,OMIM:615485,Orphanet:352577|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.994	D	0.844	P	.	.	0.995	D	0.695	N	2.38	T	-1.123	T	0.042	T	0.706	3.001	16.01	5.2	1.967	4.197	15.078	0.139	0.00838704930115	0.0070	0.00239617	0.0063	0.0013	0.0030	0	0.0011	0.0096	0.0034	0.0040	0.0062483	966	154602	rs144534810	0.0096	0.0096	0.0098	0.0094	0.0113	0.0094	0.0094	0.0111	0.0111	0.0012	0.0050	0.0076	0	0.0008	0.0057	0.0113	0.0088	0.0041	0.0067	0.0067	0.0067	0.0066	0.0105	0.0063	0.0062	0.0099	0.0096	0.0018	0.0011	0.0095	0.0078	0	0.0011	0.0342	0.0105	0.0096	0.0019	0.001	0.78490	D	0.046	0.49120	D	0.994	0.66517	D	0.844	0.60373	P	.	.	.	.	0.994832	0.42435	D	1.04	0.26193	L	2.38	0.15843	T	-0.62	0.18248	N	0.391	0.43223	-1.1234	0.02127	T	0.042	0.18118	T	9	0.007854581	0.00178	T	0.008387	0.22206	T	0.139	0.37390	.	.	0.0934897674506	0.08844	0.6560833145381665	0.65544	0.168159749984	0.18958	0.671352028847	0.63031	T	0.053984	0.29597	T	-0.348477	0.04824	T	-0.263945	0.48430	T	0.0181071546874178	0.00533	T	0.59824	0.22282	T	0.4112579	0.61504	0.51290697	0.71854	0.4112579	0.61504	0.51290697	0.71854	-4.585	0.31982	T	0.6633343462471121	0.73718	0.440	0.61715	A	.	.	4.042049	0.59845	24.1	0.99750389958594343	0.84228	0.94429	0.61137	D	AEFDGBI	0.711550	0.66495	D	0.421137562254106	0.62584	4.476888	0.459852399805416	0.65351	4.812963	0.999998901175806	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.2	5.2	0.71720	4.196000	0.58203	6.107000	0.53619	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:0.0:1.0	15.078	0.71762	531	0.73574	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1987.98	36	chr18	33746048	.	T	G	1987.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.320e-01;DP=976;ExcessHet=0.0000;FS=1.195;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=-1.810e-01;SOR=0.798	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	20	0	1	0
chr18	34879715	34879715	G	A	exonic	DTNA	.	nonsynonymous SNV	DTNA:NM_001198943:exon10:c.G1147A:p.D383N	Left ventricular noncompaction 1, with or without congenital heart defects, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	3123955	Left_ventricular_noncompaction_1	MONDO:MONDO:0011403,MedGen:C1858725,OMIM:604169,Orphanet:54260	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	1.0	D	0.948	D	0.002	N	1.000	D	0.695	N	2.26	T	-0.996	T	0.060	T	0.2	2.365	13.87	4.25	1.294	4.053	12.242	0.067	0.0116061941816	.	.	8.287e-06	0	0	0	0	1.506e-05	0	0	6.5e-06	1	154602	rs778924121	1.916e-05	1.915e-05	1.225e-05	2.613e-05	0.0010	1.328e-05	1.144e-05	0.0005	0.0003	5.975e-05	6.71e-05	0	0	0	0.0010	1.079e-05	1.656e-05	4.638e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	2.414e-05	2.18e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	1.47e-05	0	0	0.02	0.91255	D	0.392	0.42261	T	0.745	0.64738	P	0.091	0.54860	B	0.002067	0.37317	N	0.267560	0.676062	0.33719	D	0.805	0.20218	L	2.23	0.18414	T	-0.8	0.22508	N	0.252	0.37197	-0.9960	0.31028	T	0.060	0.25090	T	10	0.14706224	0.27871	T	0.011606	0.29407	T	0.067	0.19503	0.257	0.19845	0.359294529755	0.35537	0.2106367304942179	0.20979	0.446009560045	0.44480	0.403208971024	0.25516	T	0.21879	0.58162	T	-0.321216	0.06798	T	-0.517653	0.20533	T	0.347344756126404	0.26914	T	0.986801	0.95481	D	0.065859266	0.14116	0.04226688	0.04993	0.065859266	0.14115	0.04226688	0.04993	-3.823	0.21178	T	0.14091245427346158	0.15807	0.072	0.12228	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	3.186979	0.43288	21.7	0.99658423393578266	0.77757	0.92047	0.54827	D	AEFI	0.332793	0.43209	N	-0.260597737568967	0.30683	1.713111	-0.285001691629128	0.28592	1.595399	0.999963976885734	0.48965	0.693126	0.56070	0	0.563428	0.19063	0	0.659464	0.59346	0	0.620846	0.47308	0	.	.	5.12	4.25	0.49658	4.122000	0.57661	8.611000	0.77769	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.007000	0.07825	0.0795:0.0:0.9205:0.0	12.242	0.53863	851	0.35303	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	577.98	35	chr18	34879715	.	G	A	577.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.280e-01;DP=738;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.70;ReadPosRankSum=0.697;SOR=0.552	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1145	20	0	1	0
chr18	35246304	35246304	A	G	exonic	ZNF397	.	nonsynonymous SNV	ZNF397:NM_001135178:exon4:c.A1599G:p.I533M,	.	.	422	1092	8	0	0	8	0.00364964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	B	0.03	B	0.846	N	1.000	D	0.255	N	3.17	T	-0.970	T	0.013	T	0.213	0.652	7.499	2.43	0.603	0.045	7.583	0.023	0.00939251303273	.	.	0.0008	0	0	0	0	0.0013	0	0.0009	9.06e-05	14	154602	rs763296249	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0002	0.0009	0.0008	0	0.0006	0.0045	2.809e-05	0	0.0007	3.732e-05	0.0005	0.0010	0.0003	0.0003	0.0003	0.0003	0.0016	0.0002	0.0002	0.0011	0.0010	0	0	0.0016	0.0029	0	0	0	7.349e-05	0	0.0002	0.014	0.53172	D	0.083	0.41405	T	0.119	0.26641	B	0.03	0.21741	B	0.846179	0.08997	N	0.889798	1	0.81001	D	0.55	0.14455	N	3.17	0.07599	T	0.61	0.02480	N	0.135	0.13198	-0.9699	0.37220	T	0.013	0.05033	T	9	0.005084038	0.00110	T	0.009393	0.24623	T	0.023	0.04649	.	.	0.0716867268079	0.06686	0.05374063573099254	0.05316	0.151121070966	0.17054	0.359417885542	0.19301	T	0.02248	0.17323	T	-0.526034	0.00405	T	-0.619938	0.11191	T	0.00852381975476425	0.00104	T	0.290971	0.05319	T	0.080381766	0.18414	0.06314339	0.12465	0.080381766	0.18413	0.06314339	0.12465	-3.991	0.23669	T	.	.	0.091	0.12985	B	.	.	1.823517	0.23168	15.91	0.88593187746354041	0.18099	0.30759	0.24165	N	AEBCI	0.081962	0.16590	N	-0.7473827119361	0.14705	0.7347498	-0.673785806864579	0.17618	0.9375951	0.997023275889983	0.35208	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	3.85	2.43	0.28797	-0.099000	0.10976	0.023000	0.13619	-0.713000	0.03919	0.001000	0.13787	0.003000	0.18671	0.828000	0.39026	0.7414:0.0:0.0:0.2586	7.583	0.27146	869	0.31655	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1234.98	37	chr18	35246304	.	A	G	1234.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.672;DP=858;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=0.365;SOR=0.756	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr18	36170097	36170097	A	G	exonic	ELP2	.	nonsynonymous SNV	ELP2:NM_001242879:exon17:c.A1901G:p.D634G	Mental retardation, autosomal recessive 58, Autosomal recessive	.	0	1513	9	0	0	9	0.0029654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.002	B	0.006	B	0.204	N	1.000	N	0	N	-0.49	T	-1.006	T	0.139	T	0.265	0.852	8.444	3.54	0.838	2.454	6.718	0.037	0.016840633897	.	0.00119808	0.0003	0	8.637e-05	0	0	8.99e-05	0	0.0021	0.0003105	48	154602	rs199910336	0.0002	0.0002	0.0001	0.0002	0.0019	0.0001	0.0001	0.0016	0.0016	2.987e-05	0.0001	0	0	0	0.0009	2.608e-05	0.0003	0.0019	9.2e-05	9.845e-05	0.0001	6.719e-05	0.0021	5.528e-05	4.365e-05	0.0011	0.0009	0	0	0	0	0	0	0	4.411e-05	0.0005	0.0021	0.19	0.21144	T	0.268	0.24264	T	0.001	0.09854	B	0.003	0.12133	B	0.204196	0.16524	N	0.637257	1	0.08975	N	1.61	0.41143	L	-0.49	0.70365	T	-1.34	0.37566	N	0.249	0.32921	-1.0058	0.28216	T	0.139	0.45791	T	10	0.0043249726	0.00087	T	0.016841	0.38283	T	0.037	0.09474	.	.	0.699663631427	0.69706	0.438556357118508	0.43772	0.104554482141	0.11829	0.372700065374	0.21219	T	0.021072	0.16473	T	-0.397438	0.02407	T	-0.350145	0.39189	T	0.0203395389322299	0.00734	T	0.844516	0.52185	T	0.05245166	0.09784	0.082355	0.18789	0.05245166	0.09784	0.082355	0.18788	-3.489	0.17828	T	.	.	0.071	0.05979	B	.;.;.;.;.;.	.;.;.;.;.;.	2.008011	0.25515	16.79	0.97360644248206762	0.33573	0.42619	0.26918	N	AEFDBIJ	0.122815	0.23813	N	-0.629280780682264	0.18069	0.9351134	-0.504208007450828	0.22038	1.195075	0.999651519669057	0.41424	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.7	3.54	0.39650	2.673000	0.46524	4.840000	0.45276	0.691000	0.84096	0.898000	0.31380	0.999000	0.35428	0.987000	0.62547	0.8944:0.0:0.1056:0.0	6.718	0.22502	854	0.34840	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1614.98	37	chr18	36170097	.	A	G	1614.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.520e-01;DP=914;ExcessHet=0.0000;FS=3.667;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=-1.545e+00;SOR=0.861	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1417	20	0	1	0
chr18	36215696	36215696	G	T	exonic	MOCOS	.	nonsynonymous SNV	MOCOS:NM_017947:exon8:c.G1516T:p.G506W,	Xanthinuria, type II, Autosomal recessive	.	418	1096	6	2	0	10	0.00454133	.	.	756440	Xanthinuria_type_II	MONDO:MONDO:0011346,MedGen:C1863688,OMIM:603592,Orphanet:3467,Orphanet:93602	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.18	T	0.983	D	0.523	P	0.134	N	1.000	N	0	N	2.3	T	-0.984	T	0.019	T	0.118	2.502	14.33	-8.62	-1.962	-1.799	0.903	0.138	.	7.7e-05	0.00219649	0.0005	0	0.0003	0	0	7.509e-05	0	0.0034	0.0005045	78	154602	rs149198061	0.0003	0.0003	0.0002	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	2.987e-05	0.0002	0	0	0	0.0017	8.453e-05	0.0004	0.0027	0.0002	0.0002	0.0001	0.0003	0.0044	0.0001	0.0001	0.0029	0.0025	0	0	0.0002	0	0.0002	0	0	8.824e-05	0	0.0044	0.017	0.51248	D	0.024	0.56640	D	0.983	0.60381	D	0.523	0.48316	P	0.133691	0.02829	N	1.758710	1	0.08975	N	1.355	0.33814	L	2.3	0.16953	T	-0.59	0.17624	N	0.306	0.34552	-0.9840	0.34069	T	0.019	0.08173	T	10	0.0050515234	0.00109	T	.	.	.	0.138	0.37187	.	.	0.0920862733494	0.08535	0.31011833918129494	0.30924	0.235098826708	0.26036	0.234153389931	0.02289	T	0.024831	0.18684	T	-0.651387	0.00071	T	-0.7115	0.05219	T	0.093951621976235	0.11678	T	0.360864	0.08314	T	0.05138473	0.09430	0.034130704	0.02426	0.05138473	0.09429	0.034130704	0.02425	-5.42	0.41111	T	.	.	0.092	0.13409	B	.	.	-0.280593	0.02704	0.353	0.92477289572119692	0.21907	0.12137	0.17082	N	AEFBCI	0.166213	0.29278	N	-1.35114553096167	0.03113	0.1385413	-1.55497535745805	0.01942	0.08862845	0.99981880238805	0.43459	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.45	-8.62	0.00765	-1.470000	0.02452	-3.271000	0.02918	-1.915000	0.00511	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4085:0.1953:0.1251:0.2711	0.903	0.01198	750	0.51762	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1182.98	37	chr18	36215696	.	G	T	1182.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.14;DP=885;ExcessHet=0.0000;FS=1.550;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.95;ReadPosRankSum=1.07;SOR=0.874	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	20	0	1	0
chr18	36251234	36251234	C	G	exonic	MOCOS	.	nonsynonymous SNV	MOCOS:NM_017947:exon11:c.C2115G:p.I705M,	Xanthinuria, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.996	D	0.969	D	0.000	D	0.841	N	2.67	M	2.23	T	-0.920	T	0.129	T	0.579	2.828	15.42	5.52	2.597	1.337	14.951	0.226	0.0107365443316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.009	0.66756	D	0.996	0.68779	D	0.969	0.72001	D	0.000000	0.84330	D	0.045766	0.841124	0.28629	N	3.085	0.87354	M	2.23	0.18083	T	-1.72	0.40850	N	0.347	0.38848	-0.9199	0.45567	T	0.129	0.43686	T	10	0.41901618	0.56737	T	0.010737	0.27620	T	0.226	0.52472	0.571	0.69431	0.504727117792	0.50111	0.4522939555101393	0.45147	0.329442917781	0.35053	0.491320937872	0.37621	T	0.060496	0.31403	T	-0.0668327	0.41832	T	-0.333777	0.41048	T	0.959726750850677	0.65611	D	0.857114	0.54640	D	0.56591505	0.70836	0.38837197	0.63683	0.56591505	0.70837	0.38837197	0.63682	-6.77	0.52336	T	0.29562671411149904	0.39258	0.105	0.19316	B	.	.	3.293239	0.45176	22.1	0.99725836197825146	0.82406	0.83395	0.42515	D	AEFBI	0.288748	0.40056	N	0.604999447689264	0.73488	5.97466	0.538193057281614	0.70579	5.526162	0.999750840240814	0.42595	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.52	5.52	0.82153	1.481000	0.35083	0.089000	0.14491	0.599000	0.40250	1.000000	0.71638	0.905000	0.28034	0.696000	0.34018	0.0:1.0:0.0:0.0	14.951	0.70720	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	742.98	38	chr18	36251234	.	C	G	742.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.450e-01;DP=822;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=-2.090e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	20	0	1	0
chr18	36652664	36652664	G	A	exonic	FHOD3	.	nonsynonymous SNV	FHOD3:NM_001281740:exon12:c.G1381A:p.G461R,	.	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00259585	0.0117	0	0	0	0	0	0	0.0189	0.0010867	168	154602	rs563399170	0.0011	0.0010	0.0006	0.0016	0.0177	0.0010	0.0010	0.0170	0.0167	3.167e-05	2.802e-05	0	0	0	0.0007	1.483e-05	0.0010	0.0177	0.0006	0.0006	0.0003	0.0008	0.0176	0.0005	0.0004	0.0146	0.0135	0	0	0	0	0	0	0	0	0.0005	0.0176	.	.	.	0.543	0.09655	T	.	.	.	.	.	.	.	.	.	.	1	0.29029	N	.	.	.	1.51	0.30937	T	.	.	.	0.076	0.05037	.	.	.	.	.	.	.	0.003935039	0.00075	T	.	.	.	.	.	.	.	0.082315109003	0.07666	0.44422421194084744	0.44340	.	.	0.32412225008	0.14045	T	.	.	.	-0.415058	0.01841	T	-0.354042	0.38742	T	.	.	.	0.583442	0.21195	T	.	.	.	.	.	.	.	.	-3.705	0.19392	T	.	.	0.099	0.16713	B	.	.	2.431557	0.31284	18.69	0.65979139726230107	0.07926	0.75638	0.37044	D	AEFBI	0.245519	0.36644	N	.	.	.	.	.	.	0.9572867549786	0.28295	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.5	4.62	0.56946	3.156000	0.50406	7.297000	0.58075	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.085000	0.17524	0.0887:0.0:0.9113:0.0	10.707	0.45157	861	0.33516	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	929.98	33	chr18	36652664	.	G	A	929.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=961;ExcessHet=0.0000;FS=0.926;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=-3.260e-01;SOR=0.504	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr18	36717857	36717862	TGCAGG	-	exonic	FHOD3	.	nonframeshift deletion	FHOD3:NM_001281739:exon15:c.1983_1988del:p.A662_G663del	.	.	420	1099	2	1	0	4	0.00181653	.	.	3227906	not_provided|Cardiomyopathy,_familial_hypertrophic,_28	MedGen:C3661900|MONDO:MONDO:0030317,MedGen:C5543616,OMIM:619402	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00539137	0.0020	9.741e-05	0.0002	0	0	9.267e-05	0.0012	0.0204	0.0001921	5	26028	rs573447742	0.0009	0.0009	0.0006	0.0013	0.0132	0.0009	0.0009	0.0126	0.0123	3.039e-05	9.473e-05	0	0	0	0.0027	0.0001	0.0010	0.0132	0.0006	0.0006	0.0004	0.0007	0.0145	0.0005	0.0004	0.0118	0.0108	4.819e-05	0	6.539e-05	0	0.0002	0	0	0.0001	0.0005	0.0145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1671.94	36	chr18	36717856	.	ATGCAGG	A	1671.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.017;DP=826;ExcessHet=0.0000;FS=1.946;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.44;ReadPosRankSum=-1.023e+00;SOR=0.486	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr18	36718000	36718000	C	T	exonic	FHOD3	.	nonsynonymous SNV	FHOD3:NM_001281739:exon15:c.C2126T:p.A709V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.944	D	0.146	N	1.000	N	1.1	L	2.27	T	-1.058	T	0.107	T	0.092	0.570	7.082	4.13	1.089	2.514	7.327	0.048	0.00579109969768	7.7e-05	.	3.377e-05	0	0.0002	0	0	3.034e-05	0	0	3.88e-05	6	154602	rs146524905	3.77e-05	3.967e-05	3.818e-05	3.721e-05	0.0002	2.965e-05	2.661e-05	8.911e-05	6.463e-05	2.989e-05	0.0002	0	0	0	0.0002	3.512e-05	8.302e-05	1.168e-05	2.629e-05	2.627e-05	2.569e-05	2.692e-05	0.0001	8.14e-06	5.14e-06	2.261e-05	9.07e-06	2.413e-05	0	0.0001	0	0	0	0	1.47e-05	0	0	0.068	0.35726	T	0.29	0.21011	T	0.001	0.64738	B	0.002	0.40614	B	0.146252	0.18119	N	0.488061	1	0.08975	N	2.25	0.63811	M	1.54	0.30401	T	-1.34	0.33401	N	0.061	0.03726	-1.0585	0.12134	T	0.107	0.39051	T	10	0.078346014	0.12477	T	0.005791	0.15042	T	0.048	0.13305	.	.	0.246926113748	0.24311	0.21432052352625625	0.21348	0.161166695707	0.18189	0.324776887894	0.14144	T	0.01042	0.09410	T	-0.463008	0.00941	T	-0.605296	0.12371	T	0.0854900479316711	0.10674	T	0.893711	0.63970	D	0.062850885	0.13171	0.09788601	0.23316	0.062850885	0.13171	0.09788601	0.23315	-4.85	0.36004	T	.	.	0.089	0.13032	B	.;.;.	.;.;.	2.671843	0.34836	19.74	0.97709223630835595	0.35483	0.57682	0.30441	D	AEFDBI	0.310499	0.41649	N	-0.185083112960452	0.33754	1.918681	-0.211770350341817	0.31111	1.757751	0.866642591993319	0.25331	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.0	4.13	0.47661	2.930000	0.48618	3.949000	0.40660	0.599000	0.40250	0.420000	0.26330	0.994000	0.32194	0.102000	0.18378	0.1666:0.746:0.0:0.0874	7.327	0.25737	878	0.29785	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1314.98	36	chr18	36718000	.	C	T	1314.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.667;DP=849;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=1.51;SOR=0.619	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr18	37067196	37067196	T	C	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.T559C:p.C187R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.958	D	0.563	P	0.066	N	1.000	N	1.525	L	0.96	T	-1.043	T	0.086	T	0.141	-0.215	2.958	0.957	-0.051	1.229	2.399	0.028	0.0248307524252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.317	0.70582	T	0.002	0.54977	B	0.003	0.49647	B	0.066107	0.21833	N	0.492799	0.999991	0.18198	N	1.895	0.50365	L	0.96	0.42888	T	-2.89	0.60665	D	0.217	0.34228	-1.0429	0.16443	T	0.086	0.33550	T	10	0.095427215	0.17043	T	0.024831	0.47815	T	0.028	0.06331	0.277	0.23004	0.151104730317	0.14643	0.12560051005708286	0.12486	0.260958981567	0.28653	0.343422293663	0.16949	T	0.074489	0.34951	T	-0.234135	0.16106	T	-0.574095	0.15076	T	0.15222541987896	0.17279	T	0.674733	0.29555	T	0.25123864	0.48131	0.18567732	0.41694	0.25123864	0.48131	0.18567732	0.41693	-2.248	0.04280	T	.	.	0.146	0.40392	B	.;.;.;.;.	.;.;.;.;.	1.448914	0.18694	13.88	0.56740053966158088	0.05617	0.66923	0.33248	D	AEFGI	0.168829	0.29561	N	-0.727595758614455	0.15249	0.7668366	-0.728904545204197	0.16243	0.8583232	4.57563750617174E-5	0.03989	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	6.17	0.957	0.18736	1.298000	0.33017	0.476000	0.18759	-0.169000	0.11342	0.930000	0.32276	0.856000	0.27440	0.032000	0.13371	0.1242:0.1328:0.13:0.613	2.399	0.04129	738	0.53389	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1905	2337.79	46	chr18	37067196	.	T	C	2337.79	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-6.944e+00;DP=2815;ExcessHet=3.5521;FS=193.128;InbreedingCoeff=-0.2495;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=1.16;ReadPosRankSum=1.87;SOR=12.484	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:215,57:272:99:.:.:249,0,5090	13	0	8	0
chr18	37067197	37067197	G	A	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.G560A:p.C187Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.004	B	0.066	N	1.000	N	0.485	N	1.0	T	-1.034	T	0.038	T	0.11	-2.968	0.001	1.01	0.473	0.289	0.508	0.114	0.00495282325438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.981	0.02004	T	1.0	0.03324	T	0.001	0.12183	B	0.002	0.10090	B	0.066107	0.21833	N	0.492799	1	0.08975	N	0.995	0.25082	L	1.0	0.41392	T	-2.1	0.47852	N	0.081	0.14054	-1.0339	0.19205	T	0.038	0.16376	T	10	0.04781583	0.04150	T	0.004953	0.12473	T	0.114	0.32008	0.24	0.17218	0.0884992946249	0.08302	0.12486170782916084	0.12412	0.0693334402013	0.07761	0.349928975105	0.17912	T	0.024333	0.18409	T	-0.281787	0.10479	T	-0.642544	0.09485	T	0.114724479615688	0.13906	T	0.662434	0.28129	T	0.03804784	0.04996	0.067671165	0.14031	0.03804784	0.04996	0.067671165	0.14031	-3.62	0.18147	T	.	.	0.075	0.13174	B	.;.;.;.;.	.;.;.;.;.	0.712451	0.10815	7.495	0.20846672331132926	0.00768	0.17205	0.19735	N	AEFGI	0.089171	0.18075	N	-0.990119155275313	0.08813	0.4147193	-0.924159477584458	0.11525	0.5876435	4.19662457214258E-5	0.03989	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	6.17	1.01	0.19044	0.347000	0.19760	1.733000	0.28342	0.676000	0.76740	0.648000	0.28154	0.820000	0.27118	0.027000	0.12703	0.2504:0.2192:0.3296:0.2008	0.508	0.00551	738	0.53389	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.119	425.43	46	chr18	37067197	.	G	A	425.43	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-7.394e+00;DP=2559;ExcessHet=1.1607;FS=156.282;InbreedingCoeff=-0.1350;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.32;ReadPosRankSum=1.76;SOR=9.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,99,1485	16	0	5	0
chr18	37160327	37160327	A	C	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001353919:exon7:c.A1036C:p.K346Q	.	.	428	1068	26	0	0	26	0.0120259	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.228	B	0.083	B	0.061	N	1.000	N	0.55	N	0.96	T	-1.043	T	0.057	T	0.186	1.217	9.941	4.0	1.440	1.159	9.785	0.047	.	0.0056	0.00359425	0.0063	0.0012	0.0068	0	0.0107	0.0075	0.0090	0.0055	0.0061189	946	154602	rs140424487	0.0077	0.0077	0.0077	0.0076	0.0175	0.0076	0.0075	0.0147	0.0137	0.0013	0.0059	0.0022	5.041e-05	0.0094	0.0175	0.0083	0.0081	0.0056	0.0060	0.0060	0.0058	0.0062	0.0088	0.0057	0.0055	0.0082	0.0080	0.0013	0	0.0071	0.0023	0	0.0098	0.0102	0.0088	0.0033	0.0054	0.076	0.34269	T	0.522	0.52060	T	0.082	0.30509	B	0.058	0.29179	B	0.061018	0.22205	N	0.494055	0.999134	0.21661	N	0.69	0.16971	N	0.96	0.46777	T	-0.59	0.17624	N	0.048	0.13626	-1.0427	0.16503	T	0.057	0.23980	T	10	0.0052022636	0.00113	T	.	.	.	0.047	0.12962	.	.	0.225902525712	0.22197	0.023553109770871192	0.02307	0.049419998863	0.05411	0.274411737919	0.06725	T	0.006163	0.05598	T	-0.546525	0.00306	T	-0.552694	0.17068	T	0.00669482875939909	0.00075	T	0.789121	0.42899	T	0.076678805	0.17358	0.05078114	0.08039	0.076678805	0.17358	0.05078114	0.08038	-3.184	0.17625	T	.	.	0.088	0.24633	B	.;.;.	.;.;.	1.738966	0.22131	15.49	0.96158279085562681	0.28890	0.50530	0.28684	D	AEFDBHCIJ	0.089290	0.18099	N	-0.550100810002571	0.20481	1.079953	-0.42009942888353	0.24408	1.336392	0.987045826263512	0.31174	0.638212	0.43195	0	0.588015	0.36545	0	0.55559	0.18752	1	0.668105	0.65232	0	.	.	5.82	4.0	0.45673	1.200000	0.31854	5.647000	0.49169	-0.274000	0.06627	0.906000	0.31575	1.000000	0.68203	0.617000	0.31819	0.1688:0.0:0.8312:0.0	9.785	0.39838	777	0.48198	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	917.98	35	chr18	37160327	.	A	C	917.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.14;DP=773;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=-5.710e-01;SOR=0.774	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1142	20	0	1	0
chr18	41990517	41990517	G	A	exonic	PIK3C3	.	nonsynonymous SNV	PIK3C3:NM_001308020:exon5:c.G488A:p.C163Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.000	D	1.000	D	-1.01	N	0.39	T	-0.981	T	0.088	T	0.582	-0.345	2.367	5.34	2.645	4.748	19.402	0.202	0.0191825203697	.	.	8.354e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs1234693293	1.379e-06	2.052e-06	0	2.769e-06	1.815e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.815e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000131	0.49741	D	0.198010	0.818997	0.37886	D	-0.315	0.03579	N	0.02	0.62318	T	0.21	0.05217	N	0.728	0.72925	-0.9808	0.34817	T	0.088	0.34023	T	9	0.14951387	0.28295	T	0.019183	0.41471	T	0.202	0.48754	0.392	0.41606	0.616482784632	0.61338	0.40395938723633873	0.40311	0.334730339818	0.35486	0.714015185833	0.69175	T	0.200424	0.55801	T	-0.0171526	0.49259	T	-0.262415	0.48584	T	0.769654989242554	0.44418	D	0.948805	0.80311	D	0.23897348	0.46781	0.23540187	0.48783	0.23897348	0.46781	0.23540187	0.48782	-1.19	0.01236	T	.	.	0.080	0.08609	B	.;.;.	.;.;.	3.041452	0.40780	21.2	0.42870556351810196	0.03189	0.94287	0.60687	D	AEFDGBI	0.656425	0.62842	D	-0.221435958348044	0.32255	1.817107	0.0574485718185649	0.42433	2.566441	0.999999958112255	0.74766	0.741868	0.97996	0	0.709663	0.81188	0	0.709663	0.75317	0	0.662026	0.63922	0	.	.	5.34	5.34	0.75982	4.832000	0.62449	9.955000	0.82755	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.402	0.94624	913	0.21160	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2844.98	34	chr18	41990517	.	G	A	2844.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.360e-01;DP=949;ExcessHet=0.0000;FS=2.190;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=2.07;SOR=0.562	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1251	20	0	1	0
chr18	43273924	43273924	C	T	exonic	SYT4	.	nonsynonymous SNV	SYT4:NM_020783:exon2:c.G505A:p.A169T,	.	.	436	1066	17	3	0	23	0.0106729	.	.	741358	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.49	T	0.759	P	0.193	B	0.000	N	1.000	D	0.275	N	3.17	T	-0.849	T	0.012	T	0.269	2.110	13.01	3.16	0.498	3.115	11.714	0.118	.	.	0.00359425	0.0023	9.688e-05	0.0006	0	0	0.0004	0.0022	0.0142	0.001934	299	154602	rs200418581	0.0010	0.0010	0.0006	0.0014	0.0126	0.0010	0.0009	0.0120	0.0118	2.987e-05	0.0011	0.0006	2.521e-05	5.618e-05	0.0068	0.0002	0.0013	0.0126	0.0009	0.0009	0.0006	0.0011	0.0126	0.0007	0.0007	0.0101	0.0092	0.0001	0	0.0022	0.0006	0	0	0.0102	0.0003	0.0033	0.0126	0.088	0.32296	T	0.199	0.27679	T	0.759	0.43487	P	0.193	0.36509	B	0.000001	0.84330	N	0.094256	1	0.81001	D	0.47	0.13106	N	3.17	0.07599	T	-2.6	0.55983	D	0.251	0.28381	-0.8488	0.52051	T	0.012	0.04558	T	10	0.007933378	0.00180	T	.	.	.	0.118	0.32913	.	.	0.33835085245	0.33439	0.5888931291434116	0.58819	0.265606145851	0.29113	0.464711070061	0.33955	T	0.194227	0.54994	T	-0.543455	0.00319	T	-0.541736	0.18126	T	0.0338073278630554	0.02604	T	0.774123	0.42343	T	0.23277618	0.46070	0.2432143	0.49760	0.23277618	0.46070	0.2432143	0.49758	-7.445	0.57222	T	.	.	0.377	0.69653	A	.;.	.;.	2.924898	0.38838	20.8	0.97077810241835594	0.32268	0.95618	0.65444	D	AEFBI	.	.	.	-0.280176094789357	0.29914	1.663	-0.155317752507187	0.33205	1.896954	0.0100621963047524	0.11960	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.87	3.16	0.35406	3.214000	0.50863	1.791000	0.28799	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.8085:0.0:0.1915	11.714	0.50907	801	0.44448	Synaptotagmin|C2 domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1235.98	34	chr18	43273924	.	C	T	1235.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.068;DP=791;ExcessHet=0.0000;FS=0.710;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=0.866;SOR=0.821	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1073	20	0	1	0
chr18	44950377	44950377	C	T	exonic	SETBP1	.	nonsynonymous SNV	SETBP1:NM_001379141:exon4:c.C1037T:p.T346I	Mental retardation, autosomal dominant 29, Autosomal dominant;Schinzel-Giedion midface retraction syndrome, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	347013	Intellectual_disability,_autosomal_dominant_29|Schinzel-Giedion_syndrome|not_specified|not_provided	MONDO:MONDO:0014482,MedGen:C4015141,OMIM:616078,Orphanet:436151|MONDO:MONDO:0010010,MedGen:C0265227,OMIM:269150,Orphanet:798|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.12	T	0.0	B	0.002	B	0.004	N	1.000	N	0.895	L	1.16	T	-1.049	T	0.064	T	0.234	2.008	12.67	2.94	0.413	0.974	11.304	0.040	.	.	0.00219649	0.0015	0.0002	0.0003	0.0001	0	1.526e-05	0	0.0108	0.0013001	201	154602	rs557430935	0.0007	0.0007	0.0004	0.0009	0.0100	0.0006	0.0006	0.0094	0.0092	8.961e-05	0.0004	0	2.519e-05	0	0.0069	7.194e-06	0.0008	0.0100	0.0004	0.0004	0.0002	0.0006	0.0104	0.0003	0.0003	0.0081	0.0073	2.405e-05	0	6.533e-05	0	0.0002	0	0.0170	1.47e-05	0	0.0104	0.005	0.63226	D	0.01	0.65728	D	0.0	0.02946	B	0.002	0.06944	B	0.004210	0.33991	N	0.346294	0.85852	0.28391	N	0.895	0.22405	L	1.16	0.38073	T	-1.96	0.45404	N	0.264	0.29889	-1.0493	0.14593	T	0.064	0.26385	T	10	0.0035018325	0.00063	T	.	.	.	0.040	0.10527	0.152	0.05544	0.0675242888579	0.06100	0.21158559608184324	0.21074	0.277297608338	0.30204	0.466983437538	0.34266	T	0.306898	0.67907	T	-0.502456	0.00554	T	-0.485125	0.23903	T	0.0133366350139553	0.00240	T	0.766723	0.39447	T	0.12515348	0.29346	0.13859028	0.33093	0.12660554	0.29649	0.16695496	0.38541	-3.098	0.11273	T	0.2293711074967942	0.31028	0.086	0.10739	B	.;.	.;.	2.122290	0.27015	17.32	0.99706472006926183	0.81005	0.66354	0.33049	D	AEFBI	0.082967	0.16805	N	-0.309288286526486	0.28795	1.591219	-0.147514375056728	0.33503	1.91719	0.0303851120482534	0.13940	0.656854	0.48797	0	0.653731	0.59785	0	0.67347	0.61138	0	0.564101	0.26826	0	.	.	5.78	2.94	0.33188	0.624000	0.24156	1.093000	0.23998	0.599000	0.40250	0.677000	0.28411	0.988000	0.31051	0.993000	0.69303	0.0:0.6965:0.2388:0.0648	11.304	0.48559	902	0.24074	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1732.98	94	chr18	44950377	.	C	T	1732.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.00;DP=1289;ExcessHet=0.0000;FS=8.960;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.75;ReadPosRankSum=-1.691e+00;SOR=0.583	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1161	20	0	1	0
chr18	44950971	44950971	G	C	exonic	SETBP1	.	nonsynonymous SNV	SETBP1:NM_001379141:exon4:c.G1631C:p.R544P	Mental retardation, autosomal dominant 29, Autosomal dominant;Schinzel-Giedion midface retraction syndrome, Autosomal dominant	YES	1	1518	3	0	0	3	0.000987167	.	.	1300368	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.946	D	0.001	D	1.000	D	0.895	L	-0.45	T	-0.196	T	0.368	T	0.835	2.376	13.90	6.08	2.894	3.568	18.844	0.255	0.0433661411829	.	.	8.247e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs201672132	4.789e-06	4.788e-06	1.361e-06	8.251e-06	8.115e-05	1.99e-06	1.28e-06	3.765e-05	2.662e-05	0	0	0	0	0	0	0	0	8.115e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.013	0.63109	D	0.999	0.77913	D	0.946	0.68276	D	0.000964	0.40836	D	0.183008	0.832167	0.34935	D	0.805	0.20218	L	-0.45	0.69896	T	0.68	0.02228	N	0.469	0.50508	-0.1961	0.77772	T	0.368	0.72780	T	10	0.444987	0.58339	T	0.043366	0.60946	D	0.255	0.56562	0.155	0.05858	0.521320446786	0.51775	0.315644848105903	0.31477	1.01034436658	0.74745	0.626671791077	0.56673	T	0.281625	0.65435	T	0.0878236	0.62942	D	0.069904	0.74905	D	0.540819104460931	0.34134	D	0.788521	0.42806	T	0.13088256	0.30526	0.277529	0.53707	0.13088256	0.30526	0.277529	0.53706	-1.181	0.01224	T	0.1857757489163677	0.24153	0.250	0.48500	B	.;.	.;.	4.618864	0.73326	26.0	0.99414234501603294	0.63453	0.96928	0.71708	D	AEFBI	0.715642	0.66774	D	0.628857225316198	0.75006	6.230457	0.67655277247966	0.80603	7.33541	0.939639199632134	0.27396	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	6.08	6.08	0.98982	4.436000	0.59691	11.868000	0.98498	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:0.0:1.0:0.0	18.844	0.92165	900	0.24599	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2678.98	94	chr18	44950971	.	G	C	2678.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.21;DP=1394;ExcessHet=0.0000;FS=1.726;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=1.13;SOR=0.856	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1161	20	0	1	0
chr18	45038580	45038580	G	A	exonic	SETBP1	.	nonsynonymous SNV	SETBP1:NM_001379141:exon5:c.G4096A:p.A1366T	Mental retardation, autosomal dominant 29, Autosomal dominant;Schinzel-Giedion midface retraction syndrome, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	347030	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.001	B	0.935	N	1.000	N	0.345	N	-0.38	T	-1.032	T	0.110	T	0.024	-0.814	0.640	-2.48	-0.322	-0.459	3.907	0.048	0.0133647543008	7.7e-05	0.000199681	8.241e-05	9.61e-05	0	0	0	0.0001	0	0.0001	8.41e-05	13	154602	rs145549368	2.736e-05	2.736e-05	2.314e-05	3.163e-05	0.0005	2.062e-05	1.816e-05	0.0001	7.541e-05	2.987e-05	2.236e-05	0	2.519e-05	0	0.0005	2.698e-05	3.312e-05	2.319e-05	7.879e-05	7.875e-05	0.0001	1.343e-05	0.0002	4.493e-05	3.51e-05	4.765e-05	3.339e-05	4.812e-05	0	6.535e-05	0	0.0002	0	0	0.0001	0.0005	0	0.505	0.07619	T	0.668	0.06345	T	0.0	0.02946	B	0.001	0.04355	B	0.934576	0.07556	N	1.031290	1	0.08975	N	0.805	0.20218	L	-0.38	0.69027	T	-0.65	0.18877	N	0.179	0.19325	-1.0315	0.19970	T	0.110	0.39651	T	10	0.01835367	0.00399	T	0.013365	0.32703	T	0.048	0.13305	.	.	0.168254554758	0.16434	0.2857309250584987	0.28486	0.248151614451	0.27372	0.229728460312	0.01948	T	0.187446	0.54105	T	-0.447145	0.01174	T	-0.682426	0.06837	T	0.109886147081852	0.13411	T	0.60234	0.22547	T	0.030328799	0.02677	0.042636145	0.05124	0.04316147	0.06675	0.054120187	0.09247	-3.854	0.21614	T	0.30741666487876085	0.40515	0.075	0.05360	B	.;.	.;.	0.084393	0.04895	1.479	0.278267866036501	0.01400	0.03782	0.09103	N	AEFBI	0.030485	0.03078	N	-1.11516422378852	0.06372	0.2931795	-1.09946848899853	0.07711	0.3761735	0.0175460011089327	0.12963	0.615465	0.37627	0	0.633656	0.55848	0	0.608524	0.38960	0	0.564101	0.26826	0	.	.	5.84	-2.48	0.06052	-0.407000	0.07240	-1.706000	0.04878	-0.108000	0.15293	0.000000	0.06391	0.000000	0.08366	0.352000	0.25704	0.3485:0.0761:0.4485:0.1269	3.907	0.08690	829	0.39537	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.02381	888.98	35	chr18	45038580	.	G	A	888.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.569;DP=764;ExcessHet=0.0000;FS=6.617;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=0.585;SOR=0.917	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1170	20	0	1	0
chr18	45663865	45663865	G	A	exonic	SLC14A2	.	nonsynonymous SNV	SLC14A2:NM_007163:exon11:c.G1432A:p.V478I	.	.	399	1122	1	0	0	1	0.000445434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.005	B	0.005	B	0.271	N	1.000	D	1.87	L	1.29	T	-1.036	T	0.090	T	0.151	3.031	16.11	4.46	2.578	2.844	10.126	0.069	0.0076056943464	0.0018	.	0.0014	0.0001	0.0013	0	0.0005	0.0020	0	0.0011	0.0014553	225	154602	rs150313115	0.0024	0.0024	0.0025	0.0023	0.0028	0.0023	0.0023	0.0027	0.0027	0.0003	0.0008	0.0016	0	0.0003	0.0007	0.0028	0.0023	0.0012	0.0014	0.0014	0.0016	0.0013	0.0028	0.0013	0.0012	0.0024	0.0023	0.0003	0	0.0004	0.0012	0	0	0	0.0028	0.0009	0.0008	0.06	0.37326	T	0.354	0.17268	T	0.005	0.12996	B	0.005	0.11217	B	0.271488	0.15119	N	0.629214	0.887842	0.27935	N	2.295	0.65404	M	1.29	0.35775	T	-0.02	0.07299	N	0.214	0.23884	-1.0359	0.18575	T	0.090	0.34683	T	10	0.014525443	0.00305	T	0.007606	0.20192	T	0.069	0.20116	.	.	0.0551355673512	0.04727	0.4659877895542462	0.46517	0.167689513179	0.18908	0.34398496151	0.17033	T	0.144645	0.48138	T	-0.527335	0.00398	T	-0.533935	0.18895	T	0.0195424297055923	0.00658	T	.	.	.	0.0354843	0.04184	0.054159045	0.09262	0.0354843	0.04184	0.054159045	0.09261	-3.507	0.16529	T	.	.	0.081	0.08081	B	.;.	.;.	2.761019	0.36214	20.2	0.99739897002858979	0.83409	0.73877	0.36135	D	AEFBI	0.158108	0.28372	N	-0.061269694468375	0.39100	2.300471	0.0537772868847524	0.42254	2.552615	0.999835688219983	0.43792	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.52	4.46	0.53567	2.894000	0.48339	8.432000	0.77174	-0.108000	0.15293	0.995000	0.38783	1.000000	0.68203	0.098000	0.18187	0.1054:0.0:0.8946:0.0	10.126	0.41823	971	0.05719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	712.98	33	chr18	45663865	.	G	A	712.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.473e+00;DP=765;ExcessHet=0.0000;FS=2.175;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.08;ReadPosRankSum=0.480;SOR=0.906	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1090	20	0	1	0
chr18	45734374	45734374	C	T	exonic	SLC14A1	.	nonsynonymous SNV	SLC14A1:NM_001308279:exon3:c.C46T:p.L16F	.	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.013	B	0.073	B	0.066	N	0.973	N	0.785	N	0.71	T	-1.018	T	0.070	T	0.137	-0.205	3.005	-5.34	-1.222	-0.357	11.948	0.047	.	.	0.00299521	0.0007	0	8.639e-05	0	0	0	0	0.0051	0.0006533	101	154602	rs563016158	0.0003	0.0003	0.0002	0.0004	0.0046	0.0003	0.0003	0.0042	0.0040	0	2.236e-05	0	0	0	0.0005	2.518e-05	0.0004	0.0046	0.0002	0.0002	0.0001	0.0002	0.0048	0.0001	0.0001	0.0033	0.0028	0	0	0	0	0	0	0.0034	5.883e-05	0	0.0048	0.419	0.11550	T	0.291	0.27414	T	0.013	0.16609	B	0.042	0.28123	B	0.066468	0.21809	N	0.457966	1	0.25574	N	0.41	0.12415	N	0.71	0.51228	T	-1.55	0.37566	N	0.077	0.11340	-1.0184	0.24236	T	0.070	0.28675	T	10	0.010507822	0.00233	T	.	.	.	0.047	0.12962	0.632	0.76810	0.359763055319	0.35592	0.7460463153490325	0.74550	0.121600080032	0.13703	0.282375782728	0.07826	T	0.107008	0.41884	T	-0.599291	0.00147	T	-0.632663	0.10214	T	0.0136333213351631	0.00253	T	0.606339	0.26688	T	0.17119144	0.37738	0.1305254	0.31361	0.16265717	0.36355	0.10768685	0.25927	-8.006	0.61111	D	0.14178617454011205	0.15980	0.061	0.06710	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	-0.949601	0.00846	0.029	0.63457593210648044	0.07229	0.03774	0.09091	N	AEFBI	0.128845	0.24678	N	-1.55996653810449	0.01477	0.06447476	-1.61972330332129	0.01539	0.06975818	0.999548184873933	0.40300	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.46	-5.34	0.02496	-0.344000	0.07829	-3.018000	0.03136	-0.980000	0.01901	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.6127:0.1203:0.267	11.948	0.52222	965	0.07246	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1092.98	36	chr18	45734374	.	C	T	1092.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.510e-01;DP=784;ExcessHet=0.0000;FS=1.761;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.86;ReadPosRankSum=-1.280e-01;SOR=0.919	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,117,1345	20	0	1	0
chr18	45837719	45837719	G	A	exonic	SIGLEC15	.	nonsynonymous SNV	SIGLEC15:NM_213602:exon3:c.G319A:p.A107T,	.	.	427	1063	30	2	0	34	0.0157407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.062	B	0.033	B	0.033	N	0.986	N	-0.03	N	-0.02	T	-1.065	T	0.063	T	0.052	1.707	11.67	2.66	1.989	1.656	6.395	0.089	.	.	0.00299521	0.0204	0	0.0342	0	0.125	0.0092	0.0319	0.0248	0.0023738	367	154602	rs62095363	0.0037	0.0036	0.0032	0.0042	0.0191	0.0036	0.0036	0.0183	0.0180	0.0003	0.0010	0.0080	0	0.0010	0.0090	0.0028	0.0038	0.0191	0.0028	0.0028	0.0028	0.0028	0.0190	0.0026	0.0025	0.0159	0.0147	0.0007	0	0.0012	0.0078	0	0.0003	0.0034	0.0036	0.0052	0.0190	0.515	0.07378	T	0.324	0.18903	T	0.062	0.23277	B	0.033	0.22329	B	0.033438	0.24899	N	0.377486	1	0.24643	N	-0.28	0.03718	N	-0.02	0.62918	T	-0.07	0.08033	N	0.093	0.07262	-1.0649	0.10572	T	0.063	0.26208	T	10	0.0019133389	0.00026	T	.	.	.	0.089	0.25827	.	.	0.468504517574	0.46476	0.34350939334654673	0.34263	0.492210877652	0.47877	0.825304865837	0.85843	D	0.001769	0.01195	T	-0.583491	0.00184	T	-0.594664	0.13264	T	0.0102953173564013	0.00140	T	0.507849	0.16117	T	0.05689249	0.11252	0.07087038	0.15110	0.05689249	0.11252	0.07087038	0.15110	-6.549	0.50663	T	.	.	0.085	0.10304	B	.	.	3.451763	0.48069	22.6	0.98895844859401605	0.48091	0.21767	0.21517	N	AEFDBHCIJ	0.116215	0.22818	N	-0.629701454152184	0.18055	0.9343636	-0.501972471921448	0.22099	1.198679	0.999999995230794	0.74766	0.55562	0.30534	0	0.68496	0.65989	0	0.606814	0.37721	0	0.765457	0.99879	0	.	.	3.55	2.66	0.30672	1.703000	0.37465	8.228000	0.76834	0.590000	0.31872	0.012000	0.18695	1.000000	0.68203	0.990000	0.65344	0.2953:0.0:0.7046:0.0	6.395	0.20808	977	0.04225	Immunoglobulin V-set domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1076.98	33	chr18	45837719	.	G	A	1076.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.520e-01;DP=813;ExcessHet=0.0000;FS=1.867;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=0.114;SOR=0.458	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1337	20	0	1	0
chr18	46105276	46105276	A	G	exonic	HAUS1	.	nonsynonymous SNV	HAUS1:NM_138443:exon2:c.A113G:p.H38R,	.	.	454	1066	2	0	0	2	0.000937207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.078	B	0.033	B	0.023	N	1.000	N	1.1	L	.	.	-1.076	T	0.027	T	0.116	2.518	14.38	2.98	0.853	3.608	7.415	0.074	.	0.0085	0.00658946	0.0024	0.0257	0.0010	0	0	8.999e-05	0.0011	0.0002	0.0021863	338	154602	rs114001067	0.0007	0.0007	0.0008	0.0006	0.0237	0.0007	0.0007	0.0223	0.0218	0.0237	0.0013	3.827e-05	0	0	0.0023	5.307e-05	0.0017	9.275e-05	0.0067	0.0067	0.0070	0.0063	0.0228	0.0063	0.0062	0.0216	0.0211	0.0228	0	0.0035	0	0	0	0	0.0001	0.0028	0	0.018	0.50676	D	0.053	0.47336	T	0.078	0.24389	B	0.033	0.22329	B	0.023199	0.26489	N	0.443761	1	0.81001	D	1.905	0.50856	L	.	.	.	-3.24	0.65171	D	0.448	0.54409	-1.0761	0.08124	T	0.027	0.11574	T	9	0.0052914917	0.00116	T	.	.	.	0.074	0.21613	.	.	0.229264304666	0.22521	0.47974532840378037	0.47894	0.112426820879	0.12689	0.357190489769	0.18976	T	0.206745	0.56617	T	-0.503866	0.00544	T	-0.477621	0.24699	T	0.0202877158329974	0.00728	T	0.829117	0.49388	T	0.14885712	0.33964	0.24905397	0.50468	0.14885712	0.33964	0.24905397	0.50467	-2.126	0.03697	T	.	.	0.104	0.42273	B	.;.;.	.;.;.	3.234090	0.44118	21.9	0.97141731770233086	0.32547	0.70410	0.34579	D	AEFDGBCI	0.303270	0.41129	N	-0.217040135495136	0.32434	1.829133	-0.0700460620275244	0.36634	2.134532	0.999997131502984	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.4	2.98	0.33575	2.449000	0.44592	8.039000	0.76306	0.756000	0.94297	0.993000	0.37899	1.000000	0.68203	0.986000	0.61781	0.7795:0.1451:0.0754:0.0	7.415	0.26213	981	0.03995	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	987.98	35	chr18	46105276	.	A	G	987.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.643e+00;DP=795;ExcessHet=0.0000;FS=0.758;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.19;ReadPosRankSum=1.04;SOR=0.590	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr18	46507646	46507646	G	A	exonic	LOXHD1	.	nonsynonymous SNV	LOXHD1:NM_001145473:exon4:c.C301T:p.R101W	Deafness, autosomal recessive 77, Autosomal recessive	.	0	1501	21	0	0	21	0.00694674	.	.	230917	not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_77|not_provided	MedGen:CN169374|MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.627	P	.	.	0.892	N	1.04	L	1.53	T	-1.040	T	0.079	T	0.378	1.445	10.77	1.9	0.531	1.170	11.523	0.154	0.0221032658502	0.0004	.	0.0008	0	0	0	0	0.0005	0.0042	0.0016	0.0001423	22	154602	rs201994383	0.0002	0.0002	0.0002	0.0003	0.0039	0.0002	0.0002	0.0026	0.0022	0.0002	2.801e-05	0.0005	0	8.118e-05	0.0039	0.0001	0.0004	0.0015	0.0001	0.0001	8.995e-05	0.0002	0.0008	9.739e-05	8.254e-05	0.0003	0.0002	7.217e-05	0	6.537e-05	0.0017	0.0002	0.0002	0	7.35e-05	0	0.0008	0.013	0.59928	D	0.02	0.62352	D	0.997	0.70673	D	0.627	0.51631	P	.	.	.	.	0.934216	0.27867	N	.	.	.	1.53	0.30401	T	-3.29	0.68532	D	0.241	0.33250	-1.0401	0.17283	T	0.079	0.31526	T	9	0.03621626	0.01909	T	0.022103	0.44952	T	0.154	0.40340	.	.	0.3085936734	0.30458	0.6855143700331494	0.68490	.	.	0.437417447567	0.30224	T	0.058536	0.30868	T	-0.440209	0.01290	T	-0.440485	0.28755	T	0.0933339290138825	0.11608	T	0.922708	0.71908	D	0.14633803	0.33504	0.16563064	0.38306	0.119899414	0.28223	0.18794675	0.42055	-7.176	0.57912	T	.	.	0.136	0.44201	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.024683	0.59468	24.1	0.93081625396445433	0.22701	0.79935	0.39711	D	AEFBI	0.782590	0.71383	D	-0.0194139625491323	0.40977	2.44293	-0.0100512462407786	0.39260	2.325097	0.00389632127999663	0.10327	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.21	1.9	0.24770	1.211000	0.31987	0.417000	0.18177	0.504000	0.22967	1.000000	0.71638	0.402000	0.24716	0.996000	0.76049	0.0:0.0955:0.4753:0.4292	11.523	0.49814	945	0.12563	.;PLAT/LH2 domain|PLAT/LH2 domain;.;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;.;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1765.98	35	chr18	46507646	.	G	A	1765.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.700e-02;DP=891;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.15;ReadPosRankSum=0.682;SOR=0.659	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1266	20	0	1	0
chr18	46509805	46509805	C	T	exonic	LOXHD1	.	nonsynonymous SNV	LOXHD1:NM_001145473:exon3:c.G127A:p.E43K	Deafness, autosomal recessive 77, Autosomal recessive	.	3	1509	10	0	0	10	0.00330251	.	.	57109	Autosomal_recessive_nonsyndromic_hearing_loss_77|not_provided|not_specified|Hearing_impairment	MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636|MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.979	D	0.814	P	0.001	D	1.000	D	0	N	-0.16	T	-0.631	T	0.220	T	0.33	3.786	19.22	5.54	2.768	7.418	19.426	0.146	0.0425855318556	0.0009	0.000199681	0.0005	0	0	0	0	0.0011	0	0.0001	0.0001876	29	154602	rs200242497	0.0009	0.0008	0.0009	0.0009	0.0014	0.0008	0.0008	0.0009	0.0009	0.0003	0.0007	0.0026	0	0	0.0014	0.0010	0.0011	7.577e-05	0.0005	0.0005	0.0006	0.0005	0.0009	0.0004	0.0004	0.0007	0.0007	0.0002	0	0.0003	0.0023	0	9.429e-05	0	0.0009	0	0	0.044	0.43085	D	0.04	0.69154	D	0.763	0.43659	P	0.21	0.37304	B	0.000570	0.43250	D	0.234295	0.999398	0.50806	D	.	.	.	-0.16	0.65378	T	-1.04	0.27463	N	0.263	0.40864	-0.6314	0.63511	T	0.220	0.58292	T	10	0.034445405	0.01653	T	0.042586	0.60541	D	0.146	0.38789	.	.	0.278143212241	0.27437	0.5035341707425945	0.50275	.	.	0.622962832451	0.56148	T	0.01759	0.14326	T	-0.335151	0.05731	T	-0.29975	0.44751	T	0.0578286562680526	0.06823	T	0.987301	0.95872	D	0.23193084	0.45972	0.28068095	0.54045	0.28878438	0.51879	0.3201495	0.57971	-3.574	0.31970	T	.	.	0.126	0.56363	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.383947	0.67603	25.1	0.99302801585587441	0.58686	0.97630	0.76021	D	AEFDBI	0.949597	0.96240	D	0.346657515222732	0.58561	4.029319	0.48847170156649	0.67223	5.055538	0.999999999990376	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.54	5.54	0.82907	7.814000	0.84682	7.619000	0.62229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	19.426	0.94734	945	0.12563	.;PLAT/LH2 domain|PLAT/LH2 domain;.;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;.;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1689.98	33	chr18	46509805	.	C	T	1689.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.980e-01;DP=847;ExcessHet=0.0000;FS=3.977;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.74;ReadPosRankSum=1.36;SOR=0.416	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1279	20	0	1	0
chr18	46518226	46518226	C	A	exonic	LOXHD1	.	nonsynonymous SNV	LOXHD1:NM_001145473:exon2:c.G19T:p.D7Y	Deafness, autosomal recessive 77, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	1.0	D	0.999	D	0.000	D	1.000	N	2.915	M	1.26	T	-0.685	T	0.253	T	0.957	1.568	11.20	4.21	1.133	5.585	15.059	0.449	0.143207658476	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1452586898	7.146e-07	6.84e-07	0	1.449e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.724e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.78490	T	0.005	0.83351	D	0.999	0.77913	D	0.974	0.73157	D	0.000000	0.84330	D	0.000000	0.999938	0.52935	D	.	.	.	1.26	0.36330	T	-7.86	0.96915	D	0.719	0.73735	-0.6848	0.61150	T	0.253	0.62246	T	10	0.834834	0.82641	D	0.143208	0.82555	D	0.449	0.75004	0.659	0.79689	0.229924730088	0.22615	0.8724226028615714	0.87208	.	.	0.720767736435	0.70159	T	0.204524	0.56332	T	0.262452	0.79756	D	0.139218	0.79495	D	0.984527111053467	0.75805	D	0.957904	0.84151	D	0.36240658	0.58019	0.39127123	0.63902	0.36240658	0.58019	0.39127123	0.63902	-11.936	0.84537	D	.	.	0.474	0.78636	A	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.792314	0.77791	26.8	0.87753280098455189	0.17456	0.89950	0.50757	D	AEFDBCI	0.644366	0.62064	D	0.151025465256561	0.48859	3.093156	0.0953828313952468	0.44316	2.715711	0.999989195582554	0.51787	0.487112	0.14033	0	0.563428	0.19063	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	5.09	4.21	0.48984	5.806000	0.68817	7.523000	0.59793	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.1427:0.8573:0.0:0.0	15.059	0.71600	940	0.13648	.;PLAT/LH2 domain|PLAT/LH2 domain;.;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;.;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1858.98	33	chr18	46518226	.	C	A	1858.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.220e-01;DP=910;ExcessHet=0.0000;FS=1.107;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.25;ReadPosRankSum=1.09;SOR=0.696	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1245	20	0	1	0
chr18	46579680	46579680	G	A	exonic	LOXHD1	.	nonsynonymous SNV	LOXHD1:NM_001384474:exon13:c.C1759T:p.R587W	Deafness, autosomal recessive 77, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	230965	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_77|not_specified	MedGen:C3661900|MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.999	D	0.000	D	1.000	D	3.13	M	1.93	T	0.198	D	0.520	D	0.986	2.061	12.85	4.34	1.306	4.574	15.296	0.269	0.0908119251087	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs540100675	6.503e-05	6.293e-05	6.063e-05	6.954e-05	0.0002	5.391e-05	4.993e-05	0.0001	0.0001	3.165e-05	8.402e-05	0	8.394e-05	6.086e-05	0	6.024e-05	0	0.0002	0.0001	0.0001	0.0001	0.0002	0.0004	8.66e-05	7.253e-05	9.048e-05	7.012e-05	7.222e-05	0	6.532e-05	0	0.0004	0.0002	0	0.0002	0	0.0002	0.009	0.57480	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.933513	0.43084	D	.	.	.	1.93	0.22881	T	-6.04	0.89759	D	0.854	0.85027	0.198	0.85868	D	0.520	0.82057	D	10	0.7002468	0.72398	D	0.090812	0.75588	D	0.530	0.80188	.	.	0.220303561663	0.21668	0.7752670733767262	0.77476	.	.	0.616257429123	0.55200	T	.	.	.	0.0365105	0.56585	T	0.0941034	0.76518	D	0.842197179794312	0.49508	D	0.974903	0.91072	D	0.6447332	0.75083	0.38137734	0.63148	0.5786561	0.71536	0.37738836	0.62839	-11.346	0.81521	D	.	.	0.658	0.73450	P	.;.;.	.;.;.	4.386760	0.67666	25.1	0.97823660786668909	0.36213	0.93337	0.57947	D	AEFGBI	0.789812	0.71889	D	0.38343892023685	0.60524	4.242283	0.383366520518425	0.60540	4.242578	0.785453428105703	0.23921	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.23	4.34	0.51267	5.032000	0.63926	3.835000	0.40014	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.859:0.141	15.296	0.73609	795	0.45444	PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1680.98	39	chr18	46579680	.	G	A	1680.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=861;ExcessHet=0.0000;FS=3.780;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.64;ReadPosRankSum=1.27;SOR=0.450	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1191	20	0	1	0
chr18	47084381	47084381	C	T	exonic	KATNAL2	.	stopgain	KATNAL2:NM_001353909:exon12:c.C829T:p.Q277X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402700333	1.816e-06	1.59e-06	0	3.354e-06	1.593e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.593e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.7806e-05	0.18612	A	.	.	.	.	.	.	.	.	.	0.014	0.00160	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.558887	0.00258	T	-0.9128	0.00418	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.202255	0.03078	0.482	0.17163098600936599	0.00489	0.00348	0.01797	N	AEFHCI	0.008637	0.00042	N	.	.	.	.	.	.	0.751790962245896	0.23371	0.533608	0.22052	0	0.61073	0.52368	0	0.491614	0.08109	1	0.584449	0.35598	0	.	.	3.12	-2.76	0.05547	-0.968000	0.03928	0.025000	0.13648	-1.197000	0.01367	0.000000	0.06391	0.003000	0.18671	0.004000	0.06068	0.1857:0.1224:0.3798:0.3122	1.201	0.01769	819	0.41190	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1897.98	42	chr18	47084381	.	C	T	1897.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.657e+00;DP=907;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.49;ReadPosRankSum=-9.000e-01;SOR=0.699	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr18	47098222	47098222	-	A	exonic	KATNAL2	.	frameshift insertion	KATNAL2:NM_001353908:exon12:c.829dupA:p.S281Kfs*11	.	.	734	696	20	0	72	92	0.0141643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1098.03	44	chr18	47098221	.	CA	C,CAA,CAAA	1098.03	.	AC=2,3,1;AF=0.048,0.071,0.024;AN=42;BaseQRankSum=0.200;DP=1001;ExcessHet=1.7912;FS=3.187;InbreedingCoeff=-0.1691;MLEAC=2,2,1;MLEAF=0.048,0.048,0.024;MQ=59.97;MQRankSum=0.00;QD=4.19;ReadPosRankSum=-1.150e-01;SOR=0.986	GT:AD:DP:GQ:PL	0/2:39,0,6,0:45:7:7,123,988,0,865,847,123,988,865,988	15	0	2	0
chr18	47098222	47098222	-	AA	exonic	KATNAL2	.	frameshift insertion	KATNAL2:NM_001353908:exon12:c.829_830insAA:p.S281Kfs*4	.	.	1	172	24	0	29	53	0.0652174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1098.03	44	chr18	47098221	.	CA	C,CAA,CAAA	1098.03	.	AC=2,3,1;AF=0.048,0.071,0.024;AN=42;BaseQRankSum=0.200;DP=1001;ExcessHet=1.7912;FS=3.187;InbreedingCoeff=-0.1691;MLEAC=2,2,1;MLEAF=0.048,0.048,0.024;MQ=59.97;MQRankSum=0.00;QD=4.19;ReadPosRankSum=-1.150e-01;SOR=0.986	GT:AD:DP:GQ:PL	0/2:39,0,6,0:45:7:7,123,988,0,865,847,123,988,865,988	15	0	2	0
chr18	47246885	47246885	C	G	exonic	SKOR2	.	nonsynonymous SNV	SKOR2:NM_001278063:exon2:c.G2299C:p.E767Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	.	.	.	.	.	.	1.000	D	0.695	N	-1.08	T	-0.418	T	0.350	T	0.16	0.991	9.046	4.35	2.272	3.313	13.913	0.212	0.34930389242	.	.	.	.	.	.	.	.	.	.	.	.	.	rs896692419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.251	0.17069	T	0.4	0.15010	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.08	0.77078	T	-0.87	0.23590	N	0.229	0.25745	-0.4185	0.71440	T	0.350	0.71407	T	7	0.22317582	0.39088	T	0.349304	0.92225	D	0.212	0.50341	0.06	0.00210	0.283272178027	0.27931	0.1125741580534125	0.11185	0.944579039114	0.72368	0.690085291862	0.65719	T	.	.	.	-0.0810401	0.39547	T	-0.354185	0.38725	T	0.410286843776703	0.29329	T	0.49795	0.15494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.34927	B	.;.	.;.	2.916933	0.38706	20.8	0.95541194497080018	0.27190	0.73322	0.35867	D	AEFDBCI	0.216191	0.34146	N	0.0231676954860764	0.42909	2.594422	0.0635171190653749	0.42729	2.589672	0.991132522791556	0.32384	0.549168	0.22868	0	0.627178	0.54094	0	0.503968	0.08637	0	0.530356	0.10902	0	.	.	4.35	4.35	0.51454	3.741000	0.54810	5.712000	0.49429	0.524000	0.24156	0.988000	0.36536	1.000000	0.68203	0.149000	0.20271	0.0:1.0:0.0:0.0	13.913	0.63385	872	0.31118	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1716.98	43	chr18	47246885	.	C	G	1716.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.876;DP=919;ExcessHet=0.0000;FS=0.643;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=1.36;SOR=0.798	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1047	20	0	1	0
chr18	48252446	48252446	C	G	exonic	C18orf12	.	nonsynonymous SNV	C18orf12:NM_001350280:exon1:c.C146G:p.T49S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00202876021771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07692	105.29	151	chr18	48252446	.	C	G	105.29	.	AC=2;AF=0.077;AN=26;BaseQRankSum=-5.767e+00;DP=3125;ExcessHet=0.1072;FS=202.408;InbreedingCoeff=-0.1780;MLEAC=3;MLEAF=0.115;MQ=60.00;MQRankSum=0.00;QD=0.30;ReadPosRankSum=1.62;SOR=11.226	GT:AD:DP:GQ:PL	0/1:133,44:188:99:105,0,2973	11	0	2	8
chr18	48758133	48758133	G	A	exonic	CTIF	.	nonsynonymous SNV	CTIF:NM_014772:exon8:c.G799A:p.A267T	.	.	423	1096	3	0	0	3	0.00136674	.	.	2356722	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.41	T	0.001	B	0.001	B	0.472	N	1.000	N	0.345	N	1.01	T	-1.030	T	0.053	T	0.024	0.836	8.373	-5.39	-0.702	-1.284	7.579	0.019	0.00217561425395	.	0.000199681	0.0002	0	8.66e-05	0.0001	0	1.505e-05	0	0.0013	0.0001617	25	154602	rs202032754	9.851e-05	9.85e-05	6.67e-05	0.0001	0.0013	8.511e-05	7.981e-05	0.0011	0.0010	0.0004	2.236e-05	0	2.519e-05	0	0	1.079e-05	9.935e-05	0.0013	8.542e-05	8.531e-05	7.713e-05	9.408e-05	0.0006	4.957e-05	3.963e-05	0.0002	9.022e-05	0.0001	0	6.539e-05	0	0.0002	0	0	4.411e-05	0	0.0006	0.606	0.05534	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.04355	B	0.471985	0.04931	N	1.302590	1	0.08975	N	0.345	0.11182	N	1.01	0.41392	T	-0.14	0.09135	N	0.048	0.07398	-1.0304	0.20325	T	0.053	0.22307	T	10	0.005952388	0.00133	T	0.002176	0.04071	T	0.019	0.03383	.	.	0.143184338766	0.13958	0.1026260178412565	0.10192	0.147134658135	0.16599	0.259804725647	0.04867	T	0.010432	0.09418	T	-0.702499	0.00035	T	-0.811947	0.01621	T	0.00552830111252528	0.00060	T	.	.	.	0.02727301	0.01897	0.04360004	0.05459	0.02727301	0.01897	0.04360004	0.05459	-3.683	0.19067	T	.	.	0.059	0.00793	B	.;.	.;.	0.027812	0.04477	1.192	0.87831997139109375	0.17514	0.01575	0.05137	N	AEFBI	0.037647	0.05210	N	-1.23987765332699	0.04434	0.2001204	-1.20799756738018	0.05780	0.2764013	0.999987662012605	0.51787	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.19	-5.39	0.02457	-0.708000	0.05138	-0.630000	0.08130	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.267000	0.23694	0.6209:0.0:0.2693:0.1098	7.579	0.27120	748	0.52143	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2116.98	197	chr18	48758133	.	G	A	2116.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=927;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=-3.900e-02;SOR=0.686	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1174	20	0	1	0
chr18	49097446	49097446	T	C	exonic	DYM	.	nonsynonymous SNV	DYM:NM_001374444:exon10:c.A1063G:p.I355V	Dyggve-Melchior-Clausen disease, Autosomal recessive;Smith-McCort dysplasia, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	1402459	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.001	B	0.008	B	0.000	D	1.000	D	-0.76	N	-1.22	T	-0.853	T	0.146	T	0.083	2.105	12.99	5.61	2.254	5.122	10.190	0.395	0.0163670609183	.	.	4.956e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs752865908	2.942e-05	2.941e-05	1.089e-05	4.813e-05	0.0003	2.217e-05	1.97e-05	0.0002	0.0001	0	0.0001	0	0	0	0.0003	9.893e-06	6.624e-05	0.0002	2.628e-05	2.626e-05	0	5.378e-05	0.0004	8.14e-06	5.14e-06	7.293e-05	3.03e-05	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.008	0.13708	B	0.000000	0.84330	D	0.054883	0.989332	0.40932	D	-0.46	0.02758	N	-1.22	0.78752	T	0.28	0.04233	N	0.339	0.38027	-0.8532	0.51746	T	0.146	0.47038	T	10	0.13897276	0.26426	T	0.016367	0.37594	T	0.395	0.71004	0.468	0.54052	0.417334834585	0.41349	0.18776342783962793	0.18694	0.0620959451448	0.06914	0.592374742031	0.51829	T	0.286922	0.65972	T	-0.315402	0.07280	T	-0.431151	0.29805	T	0.0752972858003471	0.09375	T	0.891311	0.62583	D	0.06600874	0.14162	0.10776128	0.25948	0.06600874	0.14161	0.10776128	0.25947	-2.183	0.03959	T	0.050691776063126685	0.00891	0.064	0.01762	B	.;.	.;.	2.060805	0.26204	17.03	0.94961563574336383	0.25880	0.83553	0.42662	D	AEFI	0.389199	0.46851	N	-0.392127339314797	0.25748	1.400077	-0.0968897337089395	0.35519	2.055869	0.999968003822973	0.48965	0.706298	0.61202	0	0.724815	0.89359	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.61	5.61	0.85347	4.838000	0.62495	5.104000	0.47459	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0749:0.0:0.9251	10.190	0.42195	933	0.16026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1770.98	36	chr18	49097446	.	T	C	1770.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.510e-01;DP=855;ExcessHet=0.0000;FS=2.822;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=0.690;SOR=0.502	GT:AD:DP:GQ:PL	0/1:81,74:155:99:1785,0,2027	20	0	1	0
chr18	49097484	49097484	T	C	exonic	DYM	.	nonsynonymous SNV	DYM:NM_001374444:exon10:c.A1025G:p.Q342R	Dyggve-Melchior-Clausen disease, Autosomal recessive;Smith-McCort dysplasia, Autosomal recessive	.	0	1509	12	1	0	14	0.00461741	.	.	268448	DYM-related_disorder|Dyggve-Melchior-Clausen_syndrome|not_provided|Smith-McCort_dysplasia	.|MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800,Orphanet:239|MedGen:C3661900|MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326,Orphanet:178355	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.53	T	0.985	D	0.982	D	0.000	D	1.000	D	1.575	L	-1.63	D	0.035	D	0.619	D	0.71	2.555	14.50	5.61	2.254	7.142	15.776	0.601	0.0749595431289	0.0007	0.000199681	0.0008	0	0.0011	0	0	0.0011	0.0022	0.0005	0.000718	111	154602	rs146000214	0.0005	0.0005	0.0005	0.0005	0.0099	0.0005	0.0005	0.0078	0.0071	0.0004	0.0011	0.0057	0	0	0.0099	0.0003	0.0011	0.0005	0.0006	0.0006	0.0006	0.0007	0.0013	0.0005	0.0005	0.0009	0.0007	4.808e-05	0	0.0013	0.0081	0	0	0.0068	0.0006	0.0019	0.0002	0.311	0.13971	T	0.088	0.42086	T	0.985	0.61118	D	0.982	0.75477	D	0.000000	0.84330	D	0.053248	0.999992	0.58761	D	1.26	0.31868	L	-1.63	0.82440	D	-1.85	0.43334	N	0.649	0.68429	0.035	0.82948	D	0.619	0.86551	D	10	0.032930166	0.01456	T	0.07496	0.72171	D	0.601	0.84237	.	.	0.905006261136	0.90405	0.16255333211799364	0.16175	0.137182170411	0.15472	0.622119307518	0.56028	T	0.504	0.82327	D	-0.110243	0.34727	T	0.0184262	0.71528	D	0.0761773277633959	0.09491	T	0.914509	0.74459	D	0.2621259	0.49273	0.2897443	0.54995	0.30464163	0.53318	0.2941475	0.55443	-5.322	0.42269	T	0.15562819880542814	0.18669	0.102	0.17827	B	.;.	.;.	3.798489	0.54714	23.5	0.91724628571322353	0.21021	0.96733	0.70648	D	AEFI	0.853291	0.77024	D	0.457735142517006	0.64645	4.723594	0.447166928782765	0.64534	4.71088	0.999999993021079	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.61	5.61	0.85347	6.803000	0.74969	7.904000	0.73702	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.0:0.0:1.0	15.776	0.77985	933	0.16026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1509.98	36	chr18	49097484	.	T	C	1509.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.670e-01;DP=861;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.50;ReadPosRankSum=0.318;SOR=0.699	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr18	49792313	49792313	A	T	exonic	ACAA2	.	nonsynonymous SNV	ACAA2:NM_006111:exon6:c.T592A:p.Y198N,	.	.	436	1076	10	0	0	10	0.00462535	.	.	741390	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.03	D	0.001	B	0.022	B	0.003	N	0.983	D	2.04	M	-3.47	D	0.384	D	0.756	D	0.32	0.958	8.907	3.07	0.914	1.290	9.974	0.412	.	7.7e-05	0.00978435	0.0075	0.0002	0.0003	0	0	0.0001	0.0055	0.0540	0.0063195	977	154602	rs149436920	0.0032	0.0032	0.0018	0.0047	0.0515	0.0032	0.0031	0.0503	0.0497	8.967e-05	0.0001	0	0	0	0.0023	4.138e-05	0.0035	0.0515	0.0015	0.0015	0.0008	0.0023	0.0466	0.0014	0.0013	0.0416	0.0397	4.81e-05	0	0.0001	0	0.0002	0	0	2.94e-05	0.0009	0.0466	0.279	0.15561	T	0.278	0.21880	T	0.001	0.07471	B	0.022	0.19653	B	0.002693	0.36102	N	0.338394	0.982977	0.39957	D	1.83	0.48079	L	-3.47	0.94546	D	-2.73	0.58085	D	0.561	0.58798	0.384	0.88849	D	0.756	0.91693	D	10	0.011936933	0.00259	T	.	.	.	0.412	0.72328	.	.	0.961264856787	0.96084	0.7100283675047323	0.70944	0.0714642106299	0.08001	0.35255664587	0.18298	T	0.713606	0.91850	D	-0.262665	0.12591	T	-0.1106	0.62563	T	0.0357932491406695	0.02945	T	0.949505	0.95512	D	0.4810872	0.65966	0.2963661	0.55668	0.4810872	0.65967	0.2963661	0.55667	-5.607	0.42856	T	.	.	0.201	0.46493	B	.;.;.	.;.;.	2.512933	0.32460	19.05	0.87474435527624284	0.17253	0.91058	0.52777	D	AEFBI	0.590402	0.58690	D	-0.192571510914944	0.33443	1.89739	-0.0942136881696004	0.35629	2.063582	0.913324895347477	0.26420	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.49	3.07	0.34476	1.299000	0.33028	3.061000	0.36160	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.7987:0.0:0.2013:0.0	9.974	0.40941	963	0.08280	Thiolase, N-terminal;Thiolase, N-terminal;Thiolase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1490.11	33	chr18	49792313	.	A	T	1490.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.780e-01;DP=792;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.06;ReadPosRankSum=0.592;SOR=0.708	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1147	19	0	2	0
chr18	49797587	49797589	GAA	-	exonic	ACAA2	.	nonframeshift deletion	ACAA2:NM_006111:exon3:c.189_191del:p.S64del,	.	.	454	1067	0	1	0	2	0.00093633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	8.366e-05	0	0.0003	0	0	0.0001	0	0	3.84e-05	1	26028	rs775692005	4.882e-05	4.925e-05	4.788e-05	4.977e-05	0.0004	3.946e-05	3.623e-05	0.0002	0.0002	0	0.0004	0	0	0	0.0002	4.236e-05	0.0001	0	7.881e-05	7.874e-05	7.711e-05	8.058e-05	0.0005	4.494e-05	3.51e-05	0.0003	0.0002	2.407e-05	0	0.0005	0	0.0002	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	828.94	37	chr18	49797586	.	TGAA	T	828.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.544;DP=740;ExcessHet=0.0000;FS=1.263;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.92;ReadPosRankSum=1.25;SOR=1.038	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,996	20	0	1	0
chr18	49872198	49872198	G	A	exonic	MYO5B	.	nonsynonymous SNV	MYO5B:NM_001080467:exon27:c.C3572T:p.P1191L,	Microvillus inclusion disease, Autosomal recessive	.	0	1495	26	1	0	28	0.00927767	.	.	741392	not_provided|MYO5B-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.61	T	0.022	B	0.003	B	0.016	N	1.000	D	0	N	2.35	T	-1.012	T	0.017	T	0.102	0.727	7.864	4.14	0.846	0.833	5.125	0.071	0.0195104407569	8.2e-05	0.000399361	0.0004	0	0.0002	0.0001	0	0.0001	0	0.0020	0.0002911	45	154602	rs373211672	0.0002	0.0002	0.0001	0.0003	0.0024	0.0002	0.0002	0.0021	0.0020	2.987e-05	0.0001	0	2.519e-05	0	0.0021	5.756e-05	0.0005	0.0024	0.0002	0.0002	0.0002	0.0001	0.0021	0.0001	8.719e-05	0.0011	0.0009	2.408e-05	0	0.0001	0	0.0004	0	0	0.0001	0.0005	0.0021	0.273	0.15876	T	0.563	0.36765	T	0.0	0.02946	B	0.001	0.04355	B	0.016246	0.28027	N	0.331370	0.971035	0.42152	D	0.205	0.09354	N	2.35	0.16217	T	-0.19	0.09965	N	0.119	0.10911	-1.0115	0.26447	T	0.017	0.07140	T	10	0.007855326	0.00178	T	0.01951	0.41891	T	0.071	0.20720	.	.	0.450539155747	0.44678	0.11143768966329352	0.11072	0.152725938462	0.17232	0.315746814013	0.12776	T	0.034122	0.23193	T	-0.637113	0.00087	T	-0.694421	0.06135	T	0.0182367125979742	0.00543	T	0.633837	0.24812	T	0.03646721	0.04490	0.033553034	0.02268	0.031174418	0.02908	0.042860616	0.05203	-3.587	0.17669	T	0.04223527136879617	0.00432	0.092	0.13597	B	.;.	.;.	1.771690	0.22528	15.66	0.76547081284395135	0.11512	0.71026	0.34837	D	AEFDBI	0.183691	0.31101	N	-0.639572925188101	0.17765	0.9168951	-0.466350532032628	0.23087	1.257237	0.969623042916039	0.29143	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.3	4.14	0.47821	1.218000	0.32071	2.074000	0.30458	-0.205000	0.08568	0.999000	0.42656	1.000000	0.68203	0.022000	0.11911	0.0:0.1574:0.1864:0.6561	5.125	0.14213	812	0.42537	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1493.98	39	chr18	49872198	.	G	A	1493.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.14;DP=897;ExcessHet=0.0000;FS=6.331;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=-4.000e-02;SOR=1.198	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr18	49906490	49906490	C	G	exonic	MYO5B	.	nonsynonymous SNV	MYO5B:NM_001080467:exon19:c.G2343C:p.K781N,	Microvillus inclusion disease, Autosomal recessive	.	0	1493	28	1	0	30	0.00994695	.	.	715996	MYO5B-related_disorder|Congenital_microvillous_atrophy|not_provided|not_specified	.|MONDO:MONDO:0009635,MedGen:C0341306,OMIM:251850,Orphanet:2290|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.002	B	0.021	B	0.115	N	0.994	D	1.7	L	-3.68	D	0.358	D	0.733	D	0.15	1.251	10.08	3.04	1.168	0.429	9.320	0.313	0.0525798051025	0.0016	0.00199681	0.0025	0.0005	0.0024	0	0.0003	0.0033	0.0067	0.0028	0.0024256	375	154602	rs61737448	0.0022	0.0022	0.0021	0.0023	0.0206	0.0021	0.0021	0.0176	0.0165	0.0014	0.0036	0.0272	0	0.0001	0.0206	0.0014	0.0050	0.0031	0.0020	0.0020	0.0020	0.0019	0.0028	0.0018	0.0017	0.0021	0.0019	0.0004	0	0.0028	0.0222	0	0.0002	0.0136	0.0019	0.0085	0.0027	0.002	0.72154	D	0.018	0.59732	D	0.002	0.09854	B	0.021	0.19346	B	0.114863	0.19258	N	0.557292	0.963049	0.26041	N	2.095	0.58118	M	-3.68	0.95282	D	-2.12	0.48184	N	0.512	0.54322	0.358	0.88460	D	0.733	0.90873	D	10	0.008488208	0.00192	T	0.05258	0.65129	D	0.313	0.63482	0.744	0.87570	0.854352048779	0.85295	0.5485949372223983	0.54785	0.277704376549	0.30248	0.389565467834	0.23609	T	0.147108	0.48503	T	-0.286034	0.10038	T	-0.187323	0.55841	T	0.0109958148807864	0.00158	T	0.953005	0.82069	D	0.27600676	0.50663	0.22935852	0.48005	0.27600676	0.50663	0.22935852	0.48004	-9.57	0.71294	D	0.1995306644029128	0.26456	0.403	0.59755	A	.	.	2.772506	0.36392	20.2	0.99594834571776047	0.73807	0.23225	0.22006	N	AEFBI	0.151852	0.27642	N	-0.44947611632423	0.23757	1.278057	-0.410507502553218	0.24689	1.353386	0.00767721798434629	0.11520	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.42	3.04	0.34171	0.479000	0.21938	0.072000	0.14274	0.599000	0.40250	0.001000	0.13787	0.001000	0.17328	0.305000	0.24618	0.0:0.7006:0.0:0.2994	9.320	0.37124	933	0.16026	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site|IQ motif, EF-hand binding site	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1566.98	33	chr18	49906490	.	C	G	1566.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.236e+00;DP=823;ExcessHet=0.0000;FS=0.638;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=1.43;SOR=0.633	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1241	20	0	1	0
chr18	49980469	49980469	C	T	exonic	MYO5B	.	nonsynonymous SNV	MYO5B:NM_001080467:exon9:c.G1031A:p.R344H,	Microvillus inclusion disease, Autosomal recessive	.	0	1485	36	0	1	37	0.011976	.	.	215558	MYO5B-related_disorder|not_specified|Congenital_microvillous_atrophy|not_provided	.|MedGen:CN169374|MONDO:MONDO:0009635,MedGen:C0341306,OMIM:251850,Orphanet:2290|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.964	D	0.941	D	0.000	D	1.000	D	2.415	M	-3.66	D	0.825	D	0.877	D	0.706	4.793	27.0	6.07	2.884	5.516	20.254	0.619	0.248873821169	0.0011	0.00239617	0.0017	0.0018	0.0006	0.0020	0	0.0012	0	0.0051	0.0016041	248	154602	rs189027956	0.0014	0.0014	0.0011	0.0016	0.0099	0.0013	0.0013	0.0078	0.0071	0.0029	0.0009	0.0008	0.0010	0.0001	0.0099	0.0011	0.0021	0.0047	0.0016	0.0016	0.0015	0.0018	0.0035	0.0015	0.0014	0.0022	0.0019	0.0024	0	0.0012	0	0.0035	0.0006	0.0034	0.0012	0.0033	0.0035	0.094	0.31383	T	0.109	0.37449	T	0.568	0.38507	P	0.102	0.30857	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.31	0.32734	L	-3.66	0.95212	D	-2.52	0.54702	D	0.41	0.45047	0.825	0.94719	D	0.877	0.95921	D	10	0.010490537	0.00233	T	0.248874	0.89028	D	0.619	0.85196	.	.	0.938179291171	0.93753	0.3564941155130345	0.35563	0.290282118503	0.31433	0.475598722696	0.35451	T	0.372919	0.73701	T	-0.0512728	0.44253	T	0.154252	0.80451	D	0.0240900993829012	0.01157	T	0.927907	0.73422	D	0.26700717	0.49772	0.23210035	0.48360	0.26700717	0.49771	0.23210035	0.48359	-9.716	0.72194	D	0.23106346885163945	0.31267	0.148	0.32589	B	.	.	3.982826	0.58557	24.0	0.99923973614868533	0.98917	0.99250	0.93443	D	AEFBI	0.714006	0.66662	D	0.574448466771434	0.71583	5.672969	0.596381750035958	0.74679	6.178384	0.999999999999895	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	6.07	6.07	0.98675	5.569000	0.67091	4.886000	0.45715	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.540000	0.29938	0.0:1.0:0.0:0.0	20.254	0.98416	849	0.35778	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class V myosin, motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1534.98	34	chr18	49980469	.	C	T	1534.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.84;DP=839;ExcessHet=0.0000;FS=0.661;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=0.891;SOR=0.782	GT:AD:DP:GQ:PL	0/1:70,59:129:99:1549,0,1652	20	0	1	0
chr18	50055305	50055305	C	T	exonic	MYO5B	.	nonsynonymous SNV	MYO5B:NM_001080467:exon2:c.G101A:p.G34E,	Microvillus inclusion disease, Autosomal recessive	.	2	1519	1	0	0	1	0.000329056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.387	B	0.168	B	0.000	D	1.000	D	1.755	L	-1.81	D	-0.006	T	0.536	D	0.838	3.916	19.92	5.94	2.822	5.429	17.853	0.498	0.0387836426394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.37966	T	0.124	0.35455	T	0.387	0.34533	B	0.072	0.28043	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.625	0.76847	M	-1.81	0.83970	D	-4.92	0.81675	D	0.644	0.65587	-0.0063	0.82125	T	0.536	0.82854	D	10	0.6602489	0.70111	D	0.038784	0.58429	D	0.498	0.78226	0.357	0.35897	0.897803160187	0.89679	0.7046846277495213	0.70410	0.736849980006	0.63023	0.559933781624	0.47258	T	0.317911	0.68933	T	0.300417	0.83000	D	0.193752	0.82780	D	0.980592966079712	0.73444	D	0.910509	0.68253	D	0.50828314	0.67579	0.53716415	0.73253	0.50828314	0.67580	0.53716415	0.73254	-6.223	0.48109	T	0.3670030217326714	0.46290	0.190	0.40810	B	.	.	3.930829	0.57454	23.9	0.99439832832992603	0.64720	0.95524	0.65064	D	AEFBI	0.802277	0.72775	D	0.217813982425596	0.52063	3.38292	0.348767097297266	0.58434	4.013784	0.999999981356878	0.74766	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.94	5.94	0.96165	5.771000	0.68535	7.609000	0.61840	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	17.853	0.88666	848	0.35897	Myosin, N-terminal, SH3-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2408.98	35	chr18	50055305	.	C	T	2408.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.454e+00;DP=899;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=0.165;SOR=0.672	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr18	50251764	50251764	C	T	exonic	CFAP53	.	nonsynonymous SNV	CFAP53:NM_145020:exon4:c.G494A:p.R165H,	Heterotaxy, visceral, 6, autosomal recessive, Autosomal recessive	.	10	1505	6	1	0	8	0.00265076	.	.	532304	CFAP53-related_disorder|not_provided|Heterotaxy,_visceral,_6,_autosomal	.|MedGen:C3661900|MONDO:MONDO:0013887,MedGen:C3553676,OMIM:614779,Orphanet:450	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.000	D	1.000	D	2.045	M	2.0	T	-0.959	T	0.138	T	0.802	4.844	27.6	5.32	2.493	4.430	16.508	0.172	0.0213929974462	0.0022	0.000798722	0.0024	0.0001	0.0009	0.0003	0.0020	0.0034	0.0033	0.0022	0.0023027	356	154602	rs138848935	0.0034	0.0034	0.0035	0.0033	0.0036	0.0033	0.0033	0.0033	0.0033	0.0005	0.0011	0.0170	0.0003	0.0011	0.0036	0.0034	0.0061	0.0024	0.0021	0.0021	0.0022	0.0020	0.0028	0.0019	0.0018	0.0025	0.0024	0.0004	0	0.0009	0.0199	0	0.0010	0	0.0028	0.0009	0.0017	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	.	.	.	2.0	0.21473	T	-3.76	0.71276	D	0.67	0.67822	-0.9586	0.39442	T	0.138	0.45508	T	10	0.006061405	0.00136	T	0.021393	0.44151	T	0.172	0.43662	.	.	0.422040124859	0.41822	0.2729855434709832	0.27211	0.417745085427	0.42384	0.480702579021	0.36153	T	0.127136	0.45396	T	-0.23062	0.16567	T	-0.107097	0.62841	T	0.0315478441424417	0.02234	T	0.740126	0.35895	T	0.64005506	0.74834	0.58659947	0.76023	0.67406607	0.76652	0.57435787	0.75345	-9.088	0.68261	D	0.7115408867780539	0.79183	0.130	0.27851	B	.	.	4.562850	0.71921	25.7	0.99947543505911152	0.99913	0.91836	0.54368	D	AEFBI	0.551048	0.56327	D	0.701475539506123	0.79728	7.139553	0.670113134032248	0.80114	7.227928	0.999996717444784	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.32	5.32	0.75377	3.868000	0.55768	4.017000	0.41215	0.599000	0.40250	0.997000	0.40164	0.999000	0.35428	0.975000	0.56047	0.0:1.0:0.0:0.0	16.508	0.84124	896	0.25515	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2429.11	33	chr18	50251764	.	C	T	2429.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.19;DP=861;ExcessHet=0.1072;FS=7.922;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=0.060;SOR=1.276	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1341	19	0	2	0
chr18	50729407	50729407	C	A	exonic	MAPK4	.	nonsynonymous SNV	MAPK4:NM_001292039:exon5:c.C684A:p.D228E	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.916	D	0.000	D	1.000	D	1.04	L	0.97	T	-0.070	T	0.411	T	0.303	3.915	19.91	3.39	1.314	0.776	12.341	0.131	0.137714037747	8.1e-05	0.000599042	0.0008	0.0005	0.0019	0	0	0.0002	0	0.0019	0.0002329	36	154602	rs201371342	0.0002	0.0002	0.0001	0.0003	0.0020	0.0002	0.0002	0.0017	0.0016	6.142e-05	0.0006	7.922e-05	0	0	0.0011	6.443e-05	0.0003	0.0020	0.0002	0.0002	0.0002	0.0003	0.0014	0.0002	0.0001	0.0007	0.0005	0	0	0.0005	0	0	0	0	0.0002	0.0009	0.0014	0.0	0.91255	D	0.006	0.92824	D	0.997	0.70673	D	0.916	0.65201	D	0.000334	0.45700	D	0.088588	0.978509	0.81001	D	2.345	0.67358	M	-1.45	0.80899	T	-1.2	0.30555	N	0.219	0.56919	-0.0695	0.80792	T	0.411	0.75971	T	10	0.019358367	0.00431	T	0.137714	0.82021	D	0.131	0.35738	0.328	0.31196	0.85893819593	0.85757	0.5074057042874711	0.50662	1.50542237494	0.87122	0.761436581612	0.76142	T	0.07206	0.34361	T	-0.28075	0.10587	T	-0.195069	0.55112	T	0.0520174781616732	0.05849	T	0.884712	0.61435	D	0.4102424	0.61435	0.35359463	0.60918	0.4102424	0.61436	0.35359463	0.60917	-3.124	0.11574	T	.	.	0.700	0.80866	P	.;.	.;.	3.345525	0.46121	22.2	0.99646354027403994	0.77005	0.94646	0.61848	D	AEFBI	0.366779	0.45447	N	0.340540738386403	0.58242	3.995335	0.333272263019057	0.57506	3.916521	0.00259513010956451	0.09558	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	5.51	3.39	0.37919	0.558000	0.23174	2.089000	0.30537	0.596000	0.33519	0.997000	0.40164	1.000000	0.68203	0.999000	0.91618	0.0:0.8325:0.0:0.1675	12.341	0.54421	734	0.53889	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1075.98	35	chr18	50729407	.	C	A	1075.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.240e-01;DP=793;ExcessHet=0.0000;FS=5.746;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.96;ReadPosRankSum=-2.230e-01;SOR=0.296	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1352	20	0	1	0
chr18	50801498	50801498	C	T	exonic	MRO	.	nonsynonymous SNV	MRO:NM_001127176:exon5:c.G478A:p.D160N	.	.	432	1059	31	0	0	31	0.0144253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	1.0	D	0.975	D	0.000	D	1.000	D	2.75	M	1.42	T	-0.114	T	0.362	T	0.157	2.878	15.59	5.68	2.680	1.623	15.308	0.271	.	0.0008	0.00359425	0.0031	0.0002	0.0015	0.0001	0.0009	0.0019	0.0024	0.0165	0.0027684	428	154602	rs34421198	0.0024	0.0025	0.0020	0.0029	0.0151	0.0024	0.0024	0.0144	0.0141	0.0005	0.0014	0.0002	7.595e-05	0.0009	0.0150	0.0017	0.0024	0.0151	0.0020	0.0020	0.0017	0.0024	0.0139	0.0019	0.0018	0.0112	0.0103	0.0003	0	0.0046	0	0.0006	0.0008	0.0068	0.0021	0.0014	0.0139	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.975	0.73362	D	0.000007	0.62929	D	0.000000	0.696698	0.81001	D	2.815	0.81989	M	1.42	0.65006	T	-3.44	0.67477	D	0.605	0.62611	-0.1139	0.79777	T	0.362	0.72330	T	10	0.007470429	0.00170	T	.	.	.	0.271	0.58633	.	.	0.575311710502	0.57199	0.16681027560439488	0.16601	0.0435277124011	0.04688	0.48858615756	0.37242	T	0.110548	0.42532	T	-0.41668	0.01797	T	-0.358984	0.38171	T	0.0206226885171932	0.00762	T	0.861714	0.55578	D	0.29636022	0.52576	0.25336042	0.50982	0.29636022	0.52576	0.25336042	0.50981	-7.849	0.61343	D	.	.	0.168	0.37159	B	.;.;.;.;.	.;.;.;.;.	4.209609	0.63584	24.6	0.99807372955357432	0.89174	0.57508	0.30395	D	AEFDI	0.299725	0.40870	N	0.363860164978995	0.59477	4.127244	0.231101934870252	0.51582	3.339425	0.999706443228583	0.41986	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.68	5.68	0.88021	1.657000	0.36981	5.928000	0.51272	0.599000	0.40250	0.917000	0.31872	1.000000	0.68203	0.021000	0.11733	0.0:1.0:0.0:0.0	15.308	0.73714	696	0.58299	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	530.98	40	chr18	50801498	.	C	T	530.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.453;DP=739;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.35;ReadPosRankSum=0.982;SOR=0.885	GT:AD:DP:GQ:PL	0/0:42,0:42:93:0,93,1395	20	0	1	0
chr18	50805242	50805243	AG	-	exonic	MRO	.	frameshift deletion	MRO:NM_001127174:exon4:c.340_341del:p.L114Dfs*29	.	.	428	1071	22	1	0	24	0.0110803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0082	0.00279553	0.0093	0.0017	0.0022	0.0001	0.0197	0.0135	0.0055	0.0028	0.0011142	29	26028	rs553835874	0.0088	0.0088	0.0089	0.0086	0.0096	0.0087	0.0086	0.0095	0.0094	0.0009	0.0024	0.0148	5.038e-05	0.0179	0.0050	0.0096	0.0070	0.0026	0.0067	0.0067	0.0070	0.0064	0.0093	0.0064	0.0062	0.0087	0.0085	0.0015	0.0011	0.0051	0.0164	0	0.0155	0.0068	0.0093	0.0052	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2297.94	47	chr18	50805241	.	CAG	C	2297.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.79;DP=938;ExcessHet=0.0000;FS=0.623;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.96;ReadPosRankSum=1.22;SOR=0.611	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1426	20	0	1	0
chr18	51177111	51177111	A	G	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.T1220C:p.F407S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.994	D	0.000	D	1.000	D	2.14	M	1.06	T	-0.561	T	0.260	T	0.979	4.060	20.9	5.97	2.288	9.339	15.443	0.693	0.102199489435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.001	0.83351	D	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.82	0.82106	M	1.06	0.39781	T	-7.43	0.94843	D	0.915	0.91736	-0.5608	0.66373	T	0.260	0.63055	T	10	0.8575133	0.84955	D	0.102199	0.77552	D	0.693	0.88867	0.523	0.62668	0.871121440729	0.86986	.	.	2.08113370078	0.94615	0.84824347496	0.89348	D	0.486903	0.81319	T	0.283754	0.81634	D	0.169817	0.81398	D	0.993432641029358	0.84232	D	0.955504	0.83071	D	0.7668921	0.81862	0.8345447	0.90481	0.7668921	0.81863	0.8345447	0.90482	-10.837	0.78756	D	.	.	0.997	0.96466	P	.;.	.;.	5.541891	0.91973	32	0.99862355508127409	0.94093	0.99359	0.94992	D	AEFBI	0.905263	0.85658	D	0.874282393817284	0.90444	10.40677	0.871452856671372	0.94204	12.58209	0.999999999990326	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	9.325000	0.96006	9.407000	0.80679	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.443	0.74935	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	80.98	35	chr18	51177111	.	A	G	80.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.770e+00;DP=900;ExcessHet=0.0000;FS=58.493;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.41;ReadPosRankSum=1.53;SOR=6.091	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,20:197:95:0|1:51177111_A_G:95,0,7138:51177111	20	0	1	0
chr18	51177112	51177112	A	G	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.T1219C:p.F407L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.997	D	0.97	D	0.000	D	1.000	D	2.14	M	1.12	T	-0.636	T	0.251	T	0.859	4.345	22.9	5.97	2.288	9.339	15.443	0.487	0.0253137631567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.113e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.075	0.47097	T	0.997	0.70673	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.82	0.82106	M	1.12	0.38718	T	-5.52	0.85994	D	0.706	0.72477	-0.6365	0.63295	T	0.251	0.62073	T	10	0.7858712	0.78241	D	0.025314	0.48293	D	0.487	0.77528	0.449	0.50957	0.730059074749	0.72765	.	.	1.28565786633	0.82653	0.864578425884	0.91784	D	0.402891	0.75979	T	0.233233	0.77025	D	0.0972472	0.76725	D	0.982453107833862	0.74501	D	0.911209	0.68535	D	0.6268725	0.74131	0.5983521	0.76673	0.6268725	0.74132	0.5983521	0.76674	-9.398	0.70223	D	.	.	0.999	0.98504	P	.;.	.;.	5.110104	0.85422	28.6	0.99866937388056276	0.94457	0.99359	0.94992	D	AEFBI	0.900400	0.84589	D	0.849071139545032	0.89055	9.816957	0.851133728241547	0.93083	11.813	0.999999999990326	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	9.325000	0.96006	11.284000	0.91844	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.443	0.74935	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.15	998.11	35	chr18	51177112	.	A	G	998.11	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-2.966e+00;DP=1568;ExcessHet=1.7912;FS=106.025;InbreedingCoeff=-0.1831;MLEAC=6;MLEAF=0.150;MQ=60.00;MQRankSum=0.00;QD=1.17;ReadPosRankSum=0.704;SOR=9.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,20:198:92:0|1:51177111_A_G:92,0,7180:51177111	14	0	6	1
chr18	51177115	51177115	C	T	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.G1216A:p.D406N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	2.14	M	0.8	T	-0.471	T	0.319	T	0.142	4.835	27.5	5.97	2.836	7.818	19.210	0.315	0.0371233782211	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1170539047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.79402	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.81	0.81869	M	0.8	0.48769	T	-4.82	0.80851	D	0.665	0.72299	-0.4713	0.69679	T	0.319	0.68874	T	10	0.70792806	0.72858	D	0.037123	0.57424	D	0.315	0.63694	0.411	0.44723	0.803544974683	0.80170	.	.	1.72979365526	0.90724	0.81810438633	0.84738	D	0.45612	0.79501	T	-0.0908589	0.37934	T	-0.368289	0.37088	T	0.994576918359117	0.85946	D	0.979702	0.93682	D	0.72907937	0.79671	0.6503769	0.79545	0.72907937	0.79673	0.6503769	0.79545	-7.331	0.56415	T	.	.	0.945	0.86363	P	.;.	.;.	5.416801	0.90641	31	0.99916025942671016	0.98379	0.99021	0.90073	D	AEFBI	0.899214	0.84335	D	0.898058628751112	0.91662	10.99954	0.896553768688559	0.95422	13.60534	0.999999999999997	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	7.905000	0.86479	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.210	0.93737	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	1330.19	111	chr18	51177115	.	C	T,G	1330.19	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=-4.762e+00;DP=2221;ExcessHet=0.6776;FS=112.002;InbreedingCoeff=-0.1305;MLEAC=3,1;MLEAF=0.075,0.025;MQ=60.00;MQRankSum=0.00;QD=2.08;ReadPosRankSum=0.366;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:174,0,19:193:81:0|1:51177111_A_G:81,603,7709,0,7106,7051:51177111	16	0	3	1
chr18	51177115	51177115	C	G	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.G1216C:p.D406H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	D	1.000	D	2.14	M	0.75	T	-0.482	T	0.319	T	0.948	4.171	21.6	5.97	2.836	7.818	19.210	0.484	0.0331809939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.81	0.81869	M	0.75	0.50192	T	-6.75	0.92692	D	0.812	0.80767	-0.4817	0.69305	T	0.319	0.68822	T	10	0.7835201	0.78052	D	0.033181	0.54798	D	0.484	0.77335	0.424	0.46857	0.840214349164	0.83868	.	.	1.91785441749	0.92971	0.830285191536	0.86606	D	0.50707	0.82498	D	0.312169	0.83907	D	0.210633	0.83698	D	0.990333229866762	0.80552	D	0.973803	0.91457	D	0.8829649	0.89912	0.8398288	0.90827	0.8829649	0.89914	0.8398288	0.90828	-12.355	0.86537	D	.	.	0.996	0.96051	P	.;.	.;.	5.487575	0.91449	32	0.99644427409600334	0.76881	0.99289	0.94010	D	AEFBI	0.907600	0.86183	D	0.896449868337804	0.91583	10.95824	0.895090889778716	0.95356	13.54367	0.999999999999997	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	7.905000	0.86479	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.210	0.93737	881	0.29269	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1330.19	111	chr18	51177115	.	C	T,G	1330.19	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=-4.762e+00;DP=2221;ExcessHet=0.6776;FS=112.002;InbreedingCoeff=-0.1305;MLEAC=3,1;MLEAF=0.075,0.025;MQ=60.00;MQRankSum=0.00;QD=2.08;ReadPosRankSum=0.366;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:174,0,19:193:81:0|1:51177111_A_G:81,603,7709,0,7106,7051:51177111	16	0	3	1
chr18	51177121	51177121	C	G	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.G1210C:p.E404Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.993	D	0.813	P	0.000	D	1.000	D	1.195	L	0.98	T	-0.905	T	0.177	T	0.378	2.941	15.80	5.97	2.836	4.893	19.210	0.169	0.0103414181764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.048	0.48594	D	0.993	0.65571	D	0.813	0.58748	P	0.000001	0.62929	D	0.098325	0.999571	0.47641	D	1.975	0.53506	M	0.98	0.42122	T	-2.3	0.51157	N	0.291	0.32921	-0.9046	0.47493	T	0.177	0.52225	T	10	0.27463642	0.45018	T	0.010341	0.26763	T	0.169	0.43123	0.401	0.43081	0.529347144327	0.52582	.	.	1.3103030877	0.83193	0.667679488659	0.62507	T	0.13375	0.46460	T	-0.0795134	0.39793	T	-0.351992	0.38975	T	0.85820886835662	0.50888	D	0.961904	0.85651	D	0.2823534	0.51273	0.23955542	0.49307	0.2823534	0.51273	0.23955542	0.49306	-12.645	0.87848	D	.	.	0.460	0.62767	A	.;.	.;.	5.061369	0.84364	28.3	0.99623389986515531	0.75594	0.97755	0.76898	D	AEFBI	0.698287	0.65601	D	0.643224233656525	0.75929	6.394	0.693241619276502	0.81863	7.62779	0.999999997071113	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	4.960000	0.63380	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.210	0.93737	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	40.98	34	chr18	51177121	.	C	G	40.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.954e+00;DP=980;ExcessHet=0.0000;FS=53.732;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.21;ReadPosRankSum=2.90;SOR=5.891	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,18:192:55:0|1:51177111_A_G:55,0,7043:51177111	20	0	1	0
chr18	52925329	52925329	A	C	exonic	DCC	.	nonsynonymous SNV	DCC:NM_005215:exon5:c.A944C:p.K315T,	Colorectal cancer, somatic;Esophageal carcinoma, somatic;Mirror movements 1, Autosomal dominant	YES	0	1516	5	1	0	7	0.00230339	.	.	741402	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.42	T	0.01	B	0.02	B	0.000	D	1.000	D	1.045	L	-0.3	T	-0.871	T	0.198	T	0.712	2.116	13.03	5.93	2.270	4.143	15.370	0.135	.	7.7e-05	0.00459265	0.0024	9.614e-05	8.691e-05	0	0	0	0.0011	0.0175	0.0021216	328	154602	rs145827180	0.0009	0.0009	0.0005	0.0013	0.0142	0.0008	0.0008	0.0135	0.0132	8.979e-05	4.477e-05	0	0	0	0.0003	3.6e-06	0.0011	0.0142	0.0004	0.0004	0.0002	0.0006	0.0126	0.0003	0.0003	0.0101	0.0092	2.406e-05	0	0	0	0	0	0	0	0	0.0126	0.437	0.09346	T	0.52	0.10465	T	0.01	0.15535	B	0.02	0.19048	B	0.000021	0.62929	D	0.065361	0.954541	0.37882	D	0.355	0.11969	N	-0.3	0.67874	T	-1.3	0.32590	N	0.617	0.63289	-0.8709	0.50462	T	0.198	0.55386	T	10	0.009410381	0.00212	T	.	.	.	0.135	0.36572	.	.	0.866368268403	0.86506	0.5359516127712904	0.53520	0.225769521978	0.25129	0.722954630852	0.70477	T	0.055847	0.30120	T	-0.266565	0.12143	T	-0.142705	0.59883	T	0.041191281401362	0.03907	T	0.754824	0.37774	T	0.19488521	0.41256	0.1528279	0.35939	0.22484724	0.45135	0.114491284	0.27636	-4.002	0.23834	T	.	.	0.505	0.64790	A	.;.	.;.	3.785176	0.54452	23.5	0.97481117985891241	0.34188	0.89207	0.49534	D	AEGI	0.565635	0.57194	D	-0.0768006228001734	0.38413	2.249329	0.141601694517412	0.46701	2.911671	0.0333435951975957	0.14101	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.93	5.93	0.95888	4.310000	0.58934	9.208000	0.79221	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.370	0.74270	568	0.70638	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1705.98	33	chr18	52925329	.	A	C	1705.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.477;DP=810;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.83;ReadPosRankSum=-7.670e-01;SOR=0.754	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1345	20	0	1	0
chr18	53157503	53157503	G	A	exonic	DCC	.	nonsynonymous SNV	DCC:NM_005215:exon8:c.G1409A:p.G470D,	Colorectal cancer, somatic;Esophageal carcinoma, somatic;Mirror movements 1, Autosomal dominant	.	1	1516	5	0	0	5	0.00164636	.	.	185695	Mirror_movements_1|Amenorrhea|not_provided	MONDO:MONDO:0008002,MedGen:C1834870,OMIM:157600,Orphanet:238722|Human_Phenotype_Ontology:HP:0000141,MONDO:MONDO:0001836,MedGen:C0002453|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.09	T	0.72	P	0.775	P	0.000	D	1.000	D	1.925	M	0.39	T	-0.642	T	0.230	T	0.837	3.021	16.08	5.4	2.546	7.067	17.966	0.344	0.0186963007183	0.0046	0.000798722	0.0032	0.0008	0.0010	0.0001	0.0021	0.0052	0.0066	6.061e-05	0.0032276	499	154602	rs141813053	0.0043	0.0043	0.0045	0.0042	0.0052	0.0042	0.0042	0.0051	0.0051	0.0007	0.0012	0.0008	2.519e-05	0.0023	0.0031	0.0052	0.0041	0.0001	0.0029	0.0029	0.0032	0.0027	0.0052	0.0027	0.0026	0.0047	0.0046	0.0010	0	0.0014	0	0	0.0022	0.0034	0.0052	0.0024	0.0010	0.001	0.78490	D	0.003	0.76473	D	0.72	0.42342	P	0.775	0.57058	P	0.000001	0.84330	D	0.000000	0.999916	0.53665	D	1.74	0.45129	L	0.39	0.57419	T	-4.79	0.80595	D	0.662	0.69825	-0.6421	0.63056	T	0.230	0.59521	T	10	0.009430081	0.00213	T	0.018696	0.40848	T	0.344	0.66582	.	.	0.819190257506	0.81748	0.49064139777321825	0.48984	0.271221807874	0.29642	0.600528478622	0.52979	T	0.355735	0.72269	T	-0.116387	0.33715	T	0.0630708	0.74449	D	0.0460880255931831	0.04800	T	0.948305	0.80601	D	0.8650983	0.88477	0.88993573	0.94262	0.854984	0.87708	0.9052229	0.95349	-8.518	0.64548	D	.	.	0.245	0.47976	B	.;.;.	.;.;.	4.364282	0.67135	25.1	0.9731862044675279	0.33365	0.98425	0.82644	D	AEFI	0.866774	0.78631	D	0.380686620629782	0.60376	4.225858	0.484920809019952	0.66990	5.024568	0.999012098707405	0.38212	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.4	5.4	0.77957	7.294000	0.78101	9.919000	0.82489	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.966	0.89020	643	0.63827	Fibronectin type III|Fibronectin type III|Fibronectin type III|Immunoglobulin subtype|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Immunoglobulin subtype|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Immunoglobulin subtype|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1532.98	34	chr18	53157503	.	G	A	1532.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.286;DP=858;ExcessHet=0.0000;FS=1.562;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.33;ReadPosRankSum=0.436;SOR=0.519	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	20	0	1	0
chr18	53305666	53305666	G	A	exonic	DCC	.	nonsynonymous SNV	DCC:NM_005215:exon13:c.G2000A:p.R667H,	Colorectal cancer, somatic;Esophageal carcinoma, somatic;Mirror movements 1, Autosomal dominant	.	4	1483	32	3	0	38	0.0126498	.	.	185696	not_provided|Mirror_movements_1	MedGen:C3661900|MONDO:MONDO:0008002,MedGen:C1834870,OMIM:157600,Orphanet:238722	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.987	D	0.000	D	1.000	D	2.085	M	0.6	T	-0.428	T	0.341	T	0.82	3.324	17.18	5.58	2.774	9.267	18.718	0.421	0.0277147776191	.	0.00199681	0.0016	9.623e-05	0.0002	0	0.0002	0.0004	0.0022	0.0099	0.0014295	221	154602	rs200099519	0.0008	0.0008	0.0006	0.0011	0.0099	0.0008	0.0008	0.0080	0.0078	5.975e-05	0.0004	0.0002	2.52e-05	0	0.0099	0.0003	0.0012	0.0085	0.0005	0.0005	0.0005	0.0006	0.0077	0.0004	0.0004	0.0057	0.0051	9.624e-05	0	0.0004	0.0003	0	9.432e-05	0.0238	0.0003	0.0014	0.0077	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.981	0.75168	D	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	2.605	0.76211	M	0.6	0.53731	T	-4.14	0.75220	D	0.708	0.71587	-0.4276	0.71144	T	0.341	0.70705	T	10	0.009708822	0.00218	T	0.027715	0.50496	D	0.421	0.73005	0.468	0.54052	0.799269044683	0.79740	0.39999589072331615	0.39914	0.790290557923	0.65750	0.695385456085	0.66478	T	0.331755	0.70179	T	-0.152377	0.27941	T	0.0155935	0.71344	D	0.102065058359253	0.12583	T	0.944006	0.78847	D	0.85099375	0.87409	0.77656585	0.86819	0.8476411	0.87163	0.7747531	0.86710	-10.559	0.77185	D	.	.	0.175	0.45520	B	.;.;.	.;.;.	5.025069	0.83534	28.1	0.99297806414847678	0.58505	0.98847	0.87641	D	AEFI	0.902154	0.84971	D	0.877066562431841	0.90591	10.47437	0.875903104390561	0.94434	12.75806	0.999999427704446	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.58	5.58	0.84361	9.423000	0.96699	9.926000	0.82543	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.718	0.91645	597	0.68309	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	719.98	35	chr18	53305666	.	G	A	719.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.440e-01;DP=822;ExcessHet=0.0000;FS=0.891;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=-1.520e+00;SOR=0.574	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1147	20	0	1	0
chr18	54269620	54269620	C	G	exonic	POLI	.	nonsynonymous SNV	POLI:NM_001351610:exon1:c.C74G:p.A25G	.	.	405	1089	27	1	0	29	0.01314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.001	B	0.001	B	.	.	0.549	N	0.895	L	0.89	T	-1.029	T	0.069	T	0.22	0.220	5.185	0.786	0.096	-0.176	6.843	0.021	.	0.0004	0.00419329	0.0058	0.0006	0.0068	0	0	0.0012	0	0.0114	0.0014295	221	154602	rs202045769	0.0019	0.0019	0.0017	0.0022	0.0134	0.0019	0.0018	0.0108	0.0102	0.0004	0.0020	0.0009	0.0001	4.378e-05	0.0134	0.0014	0.0027	0.0111	0.0015	0.0015	0.0012	0.0018	0.0139	0.0014	0.0013	0.0112	0.0102	0.0003	0	0.0029	0.0009	0	9.414e-05	0.0170	0.0013	0.0043	0.0139	0.101	0.30375	T	0.555	0.09267	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.31351	N	0.895	0.22405	L	1.11	0.45636	T	-0.56	0.17003	N	0.082	0.22870	-1.0291	0.20746	T	0.069	0.28247	T	9	0.0048523843	0.00103	T	.	.	.	0.021	0.04004	.	.	0.227934060464	0.22382	0.1694890860833699	0.16868	0.0125379949557	0.01191	0.392930924892	0.24082	T	0.074257	0.34896	T	-0.580683	0.00191	T	-0.596499	0.13107	T	0.00054267704512687	0.00005	T	0.450755	0.12737	T	0.037858743	0.04932	0.07303889	0.15826	0.037858743	0.04932	0.07303889	0.15826	-4.053	0.24594	T	.	.	0.091	0.13923	B	.;.	.;.	0.949704	0.13258	9.759	0.87848024532690416	0.17527	0.01836	0.05693	N	ALL	0.029633	0.02833	N	-1.12154625324152	0.06261	0.2877365	-1.14979809578305	0.06771	0.3270828	0.999999999999983	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.91	0.786	0.17734	-0.163000	0.09986	0.159000	0.15383	-0.315000	0.05944	0.004000	0.16614	0.000000	0.08366	0.036000	0.13842	0.0:0.4662:0.4212:0.1125	6.843	0.23155	597	0.68309	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	794.98	43	chr18	54269620	.	C	G	794.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=810;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.91;ReadPosRankSum=0.933;SOR=0.551	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1135	20	0	1	0
chr18	54294201	54294201	G	C	exonic	POLI	.	nonsynonymous SNV	POLI:NM_001351616:exon8:c.G1594C:p.V532L	.	.	432	1082	8	0	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.441	B	0.138	B	0.214	N	0.959	N	2.14	M	0.45	T	-0.975	T	0.146	T	0.09	0.903	8.672	3.35	0.641	0.511	8.395	0.062	.	0.0002	0.0091853	0.0036	0.0002	0.0002	0.0022	0	1.507e-05	0.0011	0.0247	0.0032276	499	154602	rs142279753	0.0016	0.0016	0.0010	0.0022	0.0244	0.0015	0.0015	0.0235	0.0231	0.0001	2.239e-05	0	0.0008	0	0.0017	1.35e-05	0.0025	0.0244	0.0011	0.0011	0.0006	0.0016	0.0296	0.0009	0.0009	0.0257	0.0242	0.0002	0	0.0002	0	0.0013	0	0	0	0.0005	0.0296	0.005	0.63226	D	0.051	0.47828	T	0.441	0.35913	B	0.138	0.33406	B	0.213739	0.16303	N	0.618321	0.958977	0.26204	N	2.015	0.55033	M	0.73	0.56446	T	-0.82	0.22508	N	0.041	0.07949	-0.9750	0.36125	T	0.146	0.47092	T	10	0.0027565658	0.00043	T	.	.	.	0.062	0.17934	0.15	0.05339	0.612054658674	0.60893	0.18768033341767634	0.18686	0.0126781612516	0.01211	0.346217244864	0.17363	T	0.058825	0.30947	T	-0.523803	0.00418	T	-0.506259	0.21701	T	0.0157585777557027	0.00366	T	0.888211	0.61727	D	0.05422311	0.10372	0.05948035	0.11171	0.05422311	0.10372	0.05948035	0.11170	-3.511	0.16586	T	.	.	0.087	0.33086	B	.;.;.;.	.;.;.;.	1.113367	0.14988	11.49	0.92615723404452799	0.22082	0.21516	0.21429	N	AEFGBCI	0.117917	0.23079	N	-0.309994150378662	0.28768	1.589515	-0.320464119950474	0.27438	1.522526	0.974199140291195	0.29521	0.732398	0.92422	0	0.709663	0.81188	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.2	3.35	0.37468	0.526000	0.22680	3.241000	0.36966	0.618000	0.50648	0.003000	0.16062	1.000000	0.68203	0.976000	0.56436	0.0:0.1515:0.5358:0.3127	8.395	0.31709	612	0.66786	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2511.98	33	chr18	54294201	.	G	C	2511.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.400e-01;DP=934;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.22;ReadPosRankSum=0.746;SOR=0.723	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1004	20	0	1	0
chr18	54320319	54320319	G	T	exonic	POLI	.	nonsynonymous SNV	POLI:NM_001351621:exon9:c.G1245T:p.R415S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs181073758	0	4.771e-06	.	0	.	0	0	.	.	.	.	.	.	.	.	0	.	.	5.913e-05	5.907e-05	8.998e-05	2.688e-05	0.0002	3.077e-05	2.21e-05	7.874e-05	5.577e-05	0.0002	0	6.547e-05	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	475.98	33	chr18	54320319	.	G	T	475.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.100e-02;DP=734;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.71;ReadPosRankSum=-8.140e-01;SOR=0.796	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1272	20	0	1	0
chr18	54337172	54337172	A	G	exonic	STARD6	.	nonsynonymous SNV	STARD6:NM_139171:exon5:c.T220C:p.W74R,	.	.	446	1074	2	0	0	2	0.000930233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.625	M	-3.43	D	0.834	D	0.866	D	0.972	2.272	13.55	5.16	2.068	4.194	11.681	0.859	.	0.0028	0.00419329	0.0010	0.0099	0.0006	0.0005	0	3.002e-05	0	0.0001	0.0010284	159	154602	rs111650524	0.0004	0.0004	0.0004	0.0004	0.0117	0.0004	0.0004	0.0108	0.0104	0.0117	0.0008	0	0.0007	0	0.0031	1.709e-05	0.0013	0.0002	0.0030	0.0030	0.0030	0.0029	0.0097	0.0027	0.0026	0.0090	0.0086	0.0097	0	0.0012	0	0.0012	0	0	7.35e-05	0.0066	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000022	0.55875	D	0.000000	0.999192	0.81001	D	2.945	0.84822	M	-3.43	0.94388	D	-12.13	0.99659	D	0.958	0.96758	0.834	0.94831	D	0.866	0.95553	D	10	0.06870741	0.09755	T	.	.	.	0.859	0.95691	0.916	0.98422	0.917705400606	0.91687	0.6438347781030527	0.64318	0.922911507341	0.71528	0.70924192667	0.68484	T	0.405331	0.76153	T	0.146498	0.68939	D	0.444339	0.93433	D	0.102655184151933	0.12646	T	0.371363	0.08780	T	0.88507086	0.90088	0.75520873	0.85533	0.88507086	0.90090	0.75520873	0.85534	-12.383	0.86667	D	.	.	0.973	0.89856	P	.;.	.;.	4.434456	0.68789	25.3	0.99404083435979429	0.62934	0.89129	0.49411	D	AEFDGI	0.381406	0.46368	N	0.58912612894881	0.72497	5.814831	0.490251922322904	0.67341	5.071219	0.297939322112612	0.19158	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.16	5.16	0.70563	4.568000	0.60573	8.704000	0.78116	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.301000	0.24523	1.0:0.0:0.0:0.0	11.681	0.50719	598	0.68232	START domain|START domain|START domain;START domain|START domain|START domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1301.98	34	chr18	54337172	.	A	G	1301.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.654e+00;DP=787;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=0.103;SOR=0.650	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1092	20	0	1	0
chr18	54374254	54374254	G	A	exonic	C18orf54	.	nonsynonymous SNV	C18orf54:NM_001288982:exon7:c.G959A:p.S320N	.	.	567	954	1	0	0	1	0.000523834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.004	B	0.006	B	0.168	N	1.000	N	0.69	N	2.2	T	-0.997	T	0.019	T	0.03	1.271	10.15	1.63	0.154	0.365	4.342	0.025	.	0.0034	0.00479233	0.0013	0.0132	0.0007	0.0005	0	4.59e-05	0	0.0007	0.0013325	206	154602	rs113735998	0.0005	0.0005	0.0005	0.0004	0.0131	0.0004	0.0004	0.0121	0.0117	0.0131	0.0009	0	0.0005	0	0.0031	1.823e-05	0.0014	0.0009	0.0036	0.0037	0.0037	0.0036	0.0120	0.0034	0.0033	0.0111	0.0108	0.0120	0	0.0016	0	0.0012	0	0	8.867e-05	0.0071	0.0010	0.676	0.04482	T	0.509	0.10857	T	.	.	.	.	.	.	0.168304	0.17451	N	0.591113	0.999624	0.20843	N	.	.	.	2.2	0.18570	T	0.7	0.04947	N	0.052	0.08227	-0.9973	0.30673	T	0.019	0.07986	T	10	0.0034573674	0.00061	T	.	.	.	0.025	0.05312	.	.	0.0297737177859	0.01360	0.03699264789257866	0.03646	0.0295885830499	0.03039	.	.	.	.	.	.	-0.720788	0.00027	T	-0.798744	0.01934	T	0.00114666826482598	0.00011	T	0.588541	0.22426	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.09481	B	.;.;.;.;.	.;.;.;.;.	1.413081	0.18288	13.65	0.68605623515910441	0.08710	0.38424	0.25985	N	AEFGBI	0.061670	0.11805	N	-0.643333730667387	0.17654	0.9103184	-0.479936790461262	0.22707	1.234679	0.982256725285405	0.30373	0.562547	0.31514	0	0.588066	0.40923	0	0.608884	0.39905	0	0.677038	0.66255	0	.	.	5.2	1.63	0.22882	0.226000	0.17557	2.319000	0.32123	-0.172000	0.11096	0.971000	0.34370	1.000000	0.68203	0.996000	0.76049	0.3676:0.1638:0.4686:0.0	4.342	0.10551	580	0.69689	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	323.98	34	chr18	54374254	.	G	A	323.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.579;DP=672;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.53;ReadPosRankSum=0.135;SOR=0.815	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1022	20	0	1	0
chr18	57661383	57661383	C	T	exonic	ATP8B1	.	nonsynonymous SNV	ATP8B1:NM_001374386:exon21:c.G2348A:p.R783Q	Cholestasis, benign recurrent intrahepatic, Autosomal recessive;Cholestasis, intrahepatic, of pregnancy, 1, Autosomal dominant;Cholestasis, progressive familial intrahepatic 1, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	331936	Inborn_genetic_diseases|not_provided|Progressive_familial_intrahepatic_cholestasis_type_1	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0008892,MedGen:C4551898,OMIM:211600,Orphanet:79306	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.17	T	0.001	B	0.001	B	0.560	N	0.668	D	0.55	N	1.67	T	-1.039	T	0.048	T	0.215	1.117	9.556	4.77	1.383	1.089	7.400	0.079	.	.	0.00199681	0.0015	0	0.0003	0	0	0	0	0.0106	0.0012613	195	154602	rs568134011	0.0007	0.0007	0.0004	0.0009	0.0102	0.0006	0.0006	0.0096	0.0094	0.0001	6.708e-05	0	2.519e-05	0	0.0003	1.079e-05	0.0010	0.0102	0.0004	0.0004	0.0002	0.0005	0.0102	0.0003	0.0003	0.0079	0.0071	0.0001	0	0.0001	0	0	0	0	0	0	0.0102	0.614	0.05404	T	0.604	0.07842	T	0.001	0.07471	B	0.001	0.04355	B	0.560462	0.11341	N	0.821700	0.667994	0.33115	D	-0.895	0.01383	N	1.67	0.27331	T	0.06	0.06253	N	0.18	0.19459	-1.0392	0.17556	T	0.048	0.20592	T	10	0.0024835765	0.00037	T	.	.	.	0.079	0.23065	.	.	0.408036853922	0.40422	0.3071865547992289	0.30631	.	.	0.330294638872	0.14978	T	0.081993	0.36726	T	-0.5934	0.00160	T	-0.615759	0.11521	T	0.0403506969065793	0.03754	T	0.777022	0.40965	T	0.036387164	0.04465	0.03223031	0.01928	0.038056377	0.04996	0.03397887	0.02385	-4.235	0.27255	T	0.11136232017692103	0.09513	0.065	0.01960	B	.;.	.;.	2.199680	0.28057	17.67	0.94642206842230936	0.25241	0.14433	0.18400	N	AEFDGBI	0.085259	0.17283	N	-0.483654026066474	0.22617	1.208873	-0.344790744545005	0.26670	1.474664	0.999994466956406	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.63	4.77	0.60425	0.827000	0.27075	2.684000	0.34038	0.599000	0.40250	0.004000	0.16614	0.965000	0.29475	0.984000	0.60418	0.0:0.7182:0.0:0.2818	7.400	0.26133	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1145.98	33	chr18	57661383	.	C	T	1145.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.26;DP=782;ExcessHet=0.0000;FS=0.808;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=0.227;SOR=0.533	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr18	57706561	57706561	C	T	exonic	ATP8B1	.	nonsynonymous SNV	ATP8B1:NM_001374385:exon3:c.G208A:p.D70N	Cholestasis, benign recurrent intrahepatic, Autosomal recessive;Cholestasis, intrahepatic, of pregnancy, 1, Autosomal dominant;Cholestasis, progressive familial intrahepatic 1, Autosomal recessive	.	41	1460	19	2	0	23	0.00781515	.	.	22310	not_specified|Benign_recurrent_intrahepatic_cholestasis_type_1|Cholestasis,_intrahepatic,_of_pregnancy,_1|not_provided|Progressive_familial_intrahepatic_cholestasis_type_2|Progressive_familial_intrahepatic_cholestasis_type_1	MedGen:CN169374|MONDO:MONDO:0009469,MedGen:C4551899,OMIM:243300,Orphanet:65682,Orphanet:99960|MONDO:MONDO:0007829,MedGen:C3549845,OMIM:147480,Orphanet:69665|MedGen:C3661900|MONDO:MONDO:0011156,MedGen:C3489789,OMIM:601847,Orphanet:79304|MONDO:MONDO:0008892,MedGen:C4551898,OMIM:211600,Orphanet:79306	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.4	T	1.0	D	0.926	D	0.000	N	0.999	D	0.845	L	0.05	T	-0.749	T	0.205	T	0.14	2.866	15.55	5.07	1.534	5.036	14.789	0.225	0.0767283979416	0.0024	0.00179712	0.0032	0.0010	0.0013	0.0001	0	0.0048	0.0057	0.0024	0.003247	502	154602	rs34719006	0.0036	0.0036	0.0035	0.0036	0.0222	0.0035	0.0035	0.0191	0.0179	0.0014	0.0020	0.0095	5.039e-05	0.0004	0.0222	0.0038	0.0044	0.0022	0.0030	0.0030	0.0029	0.0031	0.0043	0.0028	0.0027	0.0039	0.0037	0.0013	0	0.0039	0.0058	0	9.438e-05	0.0306	0.0043	0.0090	0.0017	0.255	0.16848	T	0.285	0.21343	T	1.0	0.90584	D	0.926	0.66095	D	0.000018	0.62929	N	0.150519	0.999207	0.46326	A	0.935	0.23595	L	0.05	0.61923	T	-2.38	0.52451	N	0.393	0.43417	-0.7488	0.57998	T	0.205	0.56293	T	10	0.009497732	0.00214	T	0.076728	0.72601	D	0.225	0.52323	.	.	0.79086341652	0.78891	0.597476656237495	0.59678	.	.	0.542955636978	0.44864	T	0.181016	0.53254	T	-0.449202	0.01142	T	-0.417208	0.31395	T	0.0355616597197093	0.02904	T	0.89721	0.64041	D	0.093981616	0.22086	0.08575032	0.19820	0.088583745	0.20668	0.10292975	0.24683	-5.33	0.40239	T	.	.	0.105	0.19114	B	.;.	.;.	4.425896	0.68596	25.3	0.99671671621269042	0.78652	0.91551	0.53766	D	AEFGBCI	0.670385	0.63749	D	0.158388486482392	0.49210	3.123942	0.175577965598586	0.48512	3.066187	0.999998103517215	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	5.94	5.07	0.68106	5.179000	0.64881	4.859000	0.45451	-0.204000	0.08590	1.000000	0.71638	1.000000	0.68203	0.895000	0.43227	0.0:0.9304:0.0:0.0696	14.789	0.69449	982	0.03397	P-type ATPase, N-terminal;P-type ATPase, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2144.11	34	chr18	57706561	.	C	T	2144.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.81;DP=829;ExcessHet=0.1072;FS=5.938;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=-1.973e+00;SOR=1.174	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1201	19	0	2	0
chr18	58535106	58535106	C	T	exonic	ALPK2	.	nonsynonymous SNV	ALPK2:NM_052947:exon5:c.G5081A:p.R1694Q,	.	.	.	.	.	.	.	.	.	.	.	1806070	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.000	N	1.000	N	-1.65	N	1.1	T	-0.959	T	0.023	T	0.083	-0.524	1.611	-2.71	-0.221	0.218	1.604	0.091	0.00371877346166	0.0006	.	0.0005	0.0003	0.0003	0	0	0.0006	0.0011	0.0008	0.0005045	78	154602	rs145798849	0.0007	0.0007	0.0007	0.0007	0.0013	0.0006	0.0006	0.0011	0.0010	8.961e-05	0.0002	0	0	1.873e-05	0.0003	0.0007	0.0009	0.0013	0.0004	0.0004	0.0005	0.0003	0.0012	0.0003	0.0003	0.0005	0.0005	7.221e-05	0	0.0004	0	0	0	0	0.0007	0	0.0012	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.00162	N	18.306500	1	0.08975	N	-2.015	0.00187	N	1.1	0.39050	T	1.57	0.00677	N	0.073	0.04668	-0.9592	0.39330	T	0.023	0.09696	T	10	0.008346558	0.00189	T	0.003719	0.08620	T	0.091	0.26358	.	.	0.158396225186	0.15383	0.02215701606801547	0.02167	0.109243230872	0.12323	0.18361800909	0.00132	T	0.002932	0.02330	T	-0.61824	0.00113	T	-0.721434	0.04727	T	0.0025493908038183	0.00027	T	0.442056	0.12263	T	0.04450739	0.07126	0.037013315	0.03266	0.04450739	0.07126	0.037013315	0.03266	-3.017	0.10365	T	.	.	0.068	0.02670	B	.	.	-0.360005	0.02367	0.259	0.52596716554155165	0.04778	0.00115	0.00727	N	AEFGBHCIJ	0.041551	0.06333	N	-1.82438389269179	0.00488	0.02101191	-1.74172828221623	0.00965	0.04321418	0.999999901421708	0.74766	0.497415	0.19182	0	0.218748	0.04544	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.07	-2.71	0.05633	0.145000	0.15978	-0.871000	0.07103	-1.909000	0.00517	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.125:0.1542:0.2574:0.4635	1.604	0.02518	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1728.98	82	chr18	58535106	.	C	T	1728.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.05;DP=1692;ExcessHet=0.0000;FS=7.063;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.90;ReadPosRankSum=-1.043e+00;SOR=0.511	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	20	0	1	0
chr18	58580312	58580312	G	-	exonic	ALPK2	.	frameshift deletion	ALPK2:NM_052947:exon4:c.464delC:p.P155Rfs*93,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.656e-05	0	0	0	0	0	0.0011	6.058e-05	1.29e-05	2	154602	rs770675304	1.915e-05	1.915e-05	1.089e-05	2.75e-05	0.0002	1.328e-05	1.144e-05	0.0001	8.646e-05	0	0	0	0	0	0	1.169e-05	0	0.0002	2.63e-05	3.284e-05	2.57e-05	2.693e-05	0.0004	8.15e-06	5.14e-06	7.318e-05	3.039e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1962.94	47	chr18	58580311	.	CG	C	1962.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=2211;ExcessHet=0.0000;FS=3.846;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.17;ReadPosRankSum=-1.760e-01;SOR=0.935	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,101,1448	20	0	1	0
chr18	58918859	58918859	C	T	exonic	ZNF532	.	nonsynonymous SNV	ZNF532:NM_001318726:exon3:c.C572T:p.T191M	.	.	430	1049	40	3	0	46	0.0214552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.406	B	0.053	B	0.968	N	1.000	N	1.245	L	4.78	T	-0.936	T	0.006	T	0.076	-1.226	0.060	5.12	2.401	0.068	5.740	0.146	.	0.0022	0.00519169	0.0051	0.0006	0.0013	0	0.0060	0.0032	0.0022	0.0209	0.0045795	708	154602	rs138581536	0.0038	0.0038	0.0031	0.0044	0.0205	0.0037	0.0036	0.0197	0.0194	0.0006	0.0013	0.0039	2.519e-05	0.0059	0.0125	0.0027	0.0035	0.0205	0.0031	0.0031	0.0027	0.0036	0.0200	0.0029	0.0028	0.0167	0.0155	0.0009	0	0.0024	0.0032	0	0.0067	0.0136	0.0032	0.0019	0.0200	0.132	0.26519	T	0.111	0.37173	T	0.406	0.34969	B	0.053	0.25678	B	0.967652	0.07758	N	1.013930	1	0.08975	N	1.1	0.28011	L	4.78	0.01551	T	-0.27	0.11366	N	0.109	0.15749	-0.9358	0.43272	T	0.006	0.02131	T	10	0.0024507642	0.00037	T	.	.	.	0.146	0.38789	.	.	0.043077524339	0.03247	0.015359013760375682	0.01491	0.60470736792	0.55397	0.25651088357	0.04483	T	0.00857	0.07859	T	-0.666255	0.00058	T	-0.714211	0.05080	T	0.00518461185078832	0.00056	T	0.90461	0.66442	D	0.063076414	0.13243	0.031573232	0.01765	0.063076414	0.13243	0.031573232	0.01765	-5.006	0.36905	T	.	.	0.072	0.04975	B	.;.;.;.;.	.;.;.;.;.	1.650501	0.21054	15.03	0.43793698931986141	0.03322	0.14789	0.18586	N	AEFGBI	0.131005	0.24979	N	-0.474476265306051	0.22920	1.227163	-0.499071598623072	0.22179	1.203422	0.999997780700719	0.74766	0.722319	0.85440	0	0.610034	0.51514	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.12	5.12	0.69459	0.563000	0.23250	0.823000	0.21872	-0.178000	0.10482	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6701:0.1706:0.1593	5.740	0.17357	938	0.14419	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1865.98	40	chr18	58918859	.	C	T	1865.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.45;DP=843;ExcessHet=0.0000;FS=7.181;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.69;ReadPosRankSum=-6.790e-01;SOR=1.319	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1086	20	0	1	0
chr18	58981603	58981603	A	G	exonic	ZNF532	.	nonsynonymous SNV	ZNF532:NM_001353538:exon5:c.A2593G:p.K865E	.	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.95	T	0.554	P	0.13	B	0.002	N	0.962	D	1.4	L	4.75	T	-0.905	T	0.006	T	0.76	1.369	10.51	5.4	2.061	4.444	15.103	0.180	0.00803380321367	0.0014	0.000599042	0.0015	0.0002	0.0008	0	0.0017	0.0021	0.0022	0.0013	0.0015071	233	154602	rs77308563	0.0018	0.0018	0.0018	0.0018	0.0021	0.0017	0.0017	0.0020	0.0020	0.0002	0.0012	0	0	0.0011	0.0002	0.0021	0.0017	0.0014	0.0012	0.0012	0.0013	0.0012	0.0019	0.0011	0.0010	0.0014	0.0013	0.0002	0.0208	0.0019	0	0.0002	0.0008	0	0.0016	0.0038	0.0004	0.293	0.14843	T	0.5	0.55759	T	0.554	0.38213	P	0.11	0.31460	B	0.002311	0.36806	N	0.287415	0.962006	0.38266	D	1.435	0.35949	L	4.75	0.01604	T	-0.85	0.23156	N	0.453	0.50508	-0.9053	0.47412	T	0.006	0.01981	T	10	0.0068249404	0.00155	T	0.008034	0.21290	T	0.180	0.45073	.	.	0.0675242888579	0.06100	0.5257963975139096	0.52503	0.775738584094	0.65018	0.534343600273	0.43646	T	0.021658	0.21526	T	-0.328557	0.06221	T	-0.246831	0.50129	T	0.033866584942745	0.02614	T	0.913709	0.69301	D	0.1728138	0.37993	0.123609394	0.29804	0.1728138	0.37993	0.123609394	0.29804	-5.033	0.37197	T	.	.	0.151	0.33458	B	.;.;.;.;.;.	.;.;.;.;.;.	2.052406	0.26091	17.00	0.98333053798471048	0.40358	0.85503	0.44642	D	AEGBI	0.440845	0.49924	N	-0.227478213180435	0.32009	1.800756	-0.154739133631899	0.33226	1.898448	0.999999940254365	0.74766	0.67177	0.52595	0	0.491513	0.07743	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.4	5.4	0.77957	4.935000	0.63199	7.880000	0.72453	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	1.0:0.0:0.0:0.0	15.103	0.71968	832	0.38914	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	2135.33	33	chr18	58981603	.	A	G	2135.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-4.870e-01;DP=854;ExcessHet=0.0000;FS=3.683;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=0.769;SOR=0.968	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1403	19	0	1	1
chr18	58984312	58984312	G	A	exonic	ZNF532	.	nonsynonymous SNV	ZNF532:NM_001353538:exon6:c.G2948A:p.S983N	.	.	529	985	7	1	0	9	0.00454775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.0	B	0.0	B	0.014	N	0.990	N	1.04	L	4.71	T	-0.949	T	0.006	T	0.013	0.534	6.891	4.93	1.480	2.655	11.973	0.096	0.00305694440415	0.0008	0.000798722	0.0009	0.0003	0.0010	0	0	0.0012	0.0011	0.0004	0.0007762	120	154602	rs143994649	0.0010	0.0010	0.0010	0.0009	0.0063	0.0009	0.0009	0.0044	0.0038	0.0003	0.0013	7.653e-05	0	0.0004	0.0063	0.0010	0.0014	0.0004	0.0009	0.0009	0.0010	0.0008	0.0030	0.0008	0.0007	0.0023	0.0021	0.0002	0	0.0030	0	0	9.422e-05	0.0068	0.0010	0.0038	0.0008	0.676	0.04482	T	0.497	0.11299	T	0.0	0.02946	B	0.0	0.01387	B	0.014497	0.28517	N	0.447252	0.99001	0.24226	N	0.975	0.24501	L	4.71	0.01655	T	-0.59	0.17624	N	0.053	0.02462	-0.9492	0.41109	T	0.006	0.02168	T	10	0.003583014	0.00065	T	0.003057	0.06606	T	0.096	0.27654	.	.	0.0675242888579	0.06100	0.12404409397100531	0.12330	0.509160944495	0.49056	0.312704443932	0.12316	T	0.012321	0.10853	T	-0.665897	0.00058	T	-0.76467	0.02947	T	0.00489879223389407	0.00053	T	0.815218	0.46991	T	0.051590893	0.09496	0.06170134	0.11958	0.051590893	0.09495	0.06170134	0.11957	-4.277	0.27853	T	.	.	0.070	0.03736	B	.;.;.;.;.	.;.;.;.;.	1.794569	0.22813	15.77	0.90076832102495719	0.19361	0.42103	0.26804	N	AEFBCI	0.158269	0.28390	N	-0.38676416620274	0.25940	1.411921	-0.270097243889027	0.29088	1.62696	0.999998851449147	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.79	4.93	0.64394	2.036000	0.40786	5.028000	0.46802	0.670000	0.69193	0.043000	0.21118	0.979000	0.30280	0.876000	0.41813	0.1433:0.0:0.8567:0.0	11.973	0.52364	840	0.37365	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	1326.33	34	chr18	58984312	.	G	A	1326.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-7.730e-01;DP=735;ExcessHet=0.0000;FS=5.932;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=16.79;ReadPosRankSum=1.23;SOR=0.851	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1341	19	0	1	1
chr18	59225572	59225572	T	G	exonic	GRP	.	nonsynonymous SNV	GRP:NM_001012512:exon2:c.T220G:p.Y74D	.	.	434	1083	5	0	0	5	0.00230309	.	.	2350375	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.021	B	0.021	B	0.955	N	1.000	N	1.7	L	1.34	T	-0.961	T	0.064	T	0.52	1.574	11.22	-4.47	-1.090	0.258	1.182	0.040	0.00674750783151	0.0002	.	0.0002	0	0	0	0	0.0003	0	6.058e-05	0.0001229	19	154602	rs374866055	0.0001	0.0001	0.0001	0.0001	0.0042	9.536e-05	9.016e-05	0.0029	0.0024	0	4.472e-05	0.0026	0	0	0.0042	2.788e-05	0.0003	0.0002	8.547e-05	8.534e-05	0.0001	6.725e-05	0.0002	4.96e-05	3.965e-05	.	.	2.409e-05	0	6.547e-05	0.0020	0	0	0.0068	0	0.0005	0.0002	0.088	0.33585	T	0.018	0.61642	D	0.012	0.18474	B	0.009	0.19346	B	0.955312	0.08260	N	0.976842	1	0.08975	N	1.465	0.36909	L	1.3	0.35590	T	-5.71	0.87457	D	0.332	0.39760	-0.9607	0.39050	T	0.064	0.26632	T	10	0.01652065	0.00349	T	0.006748	0.17840	T	0.163	0.42028	.	.	0.297031009988	0.29315	0.4948388366197035	0.49404	0.312340773906	0.33537	0.368663668633	0.20640	T	0.373304	0.73732	T	-0.317592	0.07096	T	-0.434297	0.29448	T	0.046915277838707	0.04949	T	0.522748	0.17058	T	0.11569133	0.27297	0.2409287	0.49478	0.11569133	0.27296	0.2409287	0.49477	-2.939	0.13302	T	.	.	0.175	0.38336	B	.;.;.	.;.;.	0.833389	0.12048	8.604	0.7945276910553063	0.12748	0.04476	0.10088	N	AEFDBI	0.072157	0.14391	N	-1.0141051000883	0.08310	0.3892169	-1.13274943323984	0.07081	0.3431496	0.965595431093013	0.28842	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	5.03	-4.47	0.03278	0.362000	0.20020	-1.524000	0.05246	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.073000	0.16832	0.1265:0.2286:0.261:0.3839	1.182	0.01734	887	0.27948	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1292.98	33	chr18	59225572	.	T	G	1292.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.850;DP=791;ExcessHet=0.0000;FS=1.640;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=0.602;SOR=0.491	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1149	20	0	1	0
chr18	59272512	59272512	T	C	exonic	RAX	.	nonsynonymous SNV	RAX:NM_013435:exon2:c.A392G:p.Q131R,	Microphthalmia, isolated 3, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.586	P	0.191	B	0.056	N	1.000	N	0.975	L	-3.67	D	-0.232	T	0.617	D	0.183	3.260	16.94	-0.848	-0.351	0.506	10.472	0.287	0.162088459709	.	.	8.24e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs765811725	9.577e-06	9.577e-06	9.528e-06	9.625e-06	0.0003	5.56e-06	4.35e-06	0.0002	0.0001	0	0	0	0.0003	0	0.0002	8.993e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.25255	T	0.211	0.26631	T	0.586	0.38931	P	0.191	0.36391	B	0.056049	0.22592	N	0.527273	1	0.81001	D	1.04	0.26193	L	-3.67	0.95247	D	-1.81	0.42575	N	0.107	0.09207	-0.2322	0.76829	T	0.617	0.86498	D	10	0.14108104	0.26809	T	0.162088	0.84174	D	0.287	0.60574	0.398	0.42590	0.846096319391	0.84461	0.7962787800504972	0.79580	1.03568562899	0.75588	0.574964046478	0.49377	T	0.110275	0.42483	T	-0.104568	0.35668	T	-0.218853	0.52847	T	0.213960468769073	0.21158	T	0.369563	0.08694	T	0.07816764	0.17786	0.16048698	0.37378	0.07816764	0.17786	0.16048698	0.37377	-8.151	0.62094	D	.	.	0.146	0.32299	B	.	.	2.025117	0.25739	16.87	0.98522509867792529	0.42483	0.75546	0.36994	D	AEFDBCIJ	0.344440	0.43993	N	-0.360939836181781	0.26873	1.46997	-0.297571691655836	0.28178	1.56905	0.998589013745063	0.37247	0.59774	0.34471	0	0.596491	0.49125	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	6.04	-0.848	0.10184	0.307000	0.19048	0.602000	0.19937	-0.157000	0.11712	0.982000	0.35529	0.274000	0.24066	0.946000	0.48989	0.1072:0.0:0.4989:0.3939	10.472	0.43830	902	0.24074	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2296.98	38	chr18	59272512	.	T	C	2296.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.188e+00;DP=889;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=-1.270e-01;SOR=0.714	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1193	20	0	1	0
chr18	59273010	59273010	C	G	exonic	RAX	.	nonsynonymous SNV	RAX:NM_013435:exon1:c.G197C:p.R66T,	Microphthalmia, isolated 3, Autosomal recessive	.	0	1507	15	0	0	15	0.00495213	.	.	488356	Isolated_microphthalmia_3|RAX-related_disorder|not_provided	MONDO:MONDO:0012604,MedGen:C5774181,OMIM:611038,Orphanet:2542|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.433	B	0.11	B	0.001	D	0.901	D	0.805	L	-0.25	T	0.081	D	0.483	T	0.77	3.652	18.57	5.4	2.539	1.040	12.122	0.424	0.885887126186	.	.	0.0008	0	0	0	0	0.0004	0	0.0011	0.000401	62	154602	rs536765190	0.0038	0.0036	0.0039	0.0037	0.0053	0.0037	0.0037	0.0044	0.0043	0.0008	0.0007	3.983e-05	0	0.0022	0.0053	0.0045	0.0029	0.0012	0.0025	0.0025	0.0028	0.0022	0.0047	0.0023	0.0022	0.0043	0.0041	0.0006	0	0.0008	0.0003	0	0.0012	0.0034	0.0047	0.0005	0.0006	0.005	0.63226	D	0.032	0.53426	D	0.08	0.24543	B	0.023	0.19966	B	0.000638	0.42799	D	0.269995	0.900619	0.36163	D	2.125	0.59049	M	-0.26	0.88455	T	-5.44	0.85397	D	0.69	0.69562	0.081	0.83831	D	0.483	0.80270	T	10	0.037849545	0.02164	T	0.885887	0.99133	D	0.424	0.73226	.	.	0.993989602311	0.99392	0.7186332259311994	0.71806	1.13218365852	0.78658	0.832016348839	0.86872	D	0.112314	0.42848	T	-0.140094	0.29875	T	0.025844	0.72008	D	0.0526722523432095	0.05963	T	0.665033	0.27384	T	0.18607499	0.40000	0.20751755	0.45013	0.1932929	0.41033	0.22319286	0.47189	-4.787	0.34440	T	.	.	0.223	0.45409	B	.;.;.	.;.;.	2.183915	0.27838	17.60	0.95000546132480412	0.25960	0.60861	0.31317	D	AEFDBHCI	0.103794	0.20785	N	-0.0870985073548945	0.37959	2.215962	0.0597019761330204	0.42542	2.575024	0.999999992995475	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	5.4	5.4	0.77957	-0.097000	0.11010	2.587000	0.33447	0.522000	0.23927	0.000000	0.06391	0.993000	0.31925	0.537000	0.29868	0.0:0.9167:0.0:0.0833	12.122	0.53201	903	0.23940	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	906.98	34	chr18	59273010	.	C	G	906.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.430e-01;DP=814;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.55;ReadPosRankSum=-3.560e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1193	20	0	1	0
chr18	59454948	59454948	T	C	exonic	CCBE1	.	nonsynonymous SNV	CCBE1:NM_133459:exon6:c.A557G:p.H186R,	Hennekam lymphangiectasia-lymphedema syndrome 1, Autosomal recessive	.	1	1513	8	0	0	8	0.00263678	.	.	879659	not_provided|CCBE1-related_disorder|Hennekam_lymphangiectasia-lymphedema_syndrome_1	MedGen:C3661900|.|MONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510,Orphanet:2136	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.0	B	0.0	B	0.081	N	1.000	D	0.92	L	-0.35	T	-1.017	T	0.136	T	0.194	-0.046	3.779	1.77	0.049	.	1.380	0.105	0.00985577790729	0.0002	0.000798722	0.0010	0	0.0002	0	0	0.0006	0.0011	0.0051	0.0008861	137	154602	rs115071386	0.0006	0.0006	0.0005	0.0007	0.0042	0.0005	0.0005	0.0038	0.0037	0.0001	0.0004	0.0010	0	0	0.0016	0.0003	0.0008	0.0042	0.0004	0.0004	0.0003	0.0005	0.0023	0.0003	0.0003	0.0013	0.0010	4.813e-05	0	0.0003	0.0017	0.0002	0	0.0034	0.0005	0.0019	0.0023	0.192	0.20988	T	0.358	0.19131	T	0.0	0.02946	B	0.0	0.01387	B	0.081452	0.20865	N	0.505414	0.999999	0.58761	D	1.79	0.46772	L	-0.35	0.68616	T	-1.19	0.30346	N	0.158	0.16447	-1.0169	0.24722	T	0.136	0.45145	T	10	0.0049586296	0.00106	T	0.009856	0.25698	T	0.105	0.29889	.	.	0.659007425792	0.65615	0.44647859913766336	0.44565	0.0774815839062	0.08712	0.384358525276	0.22873	T	0.022505	0.17341	T	-0.449503	0.01137	T	-0.418053	0.31298	T	0.0141161559240722	0.00275	T	0.441056	0.12198	T	0.0345036	0.03885	0.052201126	0.08554	0.0345036	0.03885	0.052201126	0.08553	-2.19	0.03992	T	0.12651052266418664	0.12784	0.064	0.02012	B	.;.;.	.;.;.	1.128147	0.15144	11.62	0.68940301646394486	0.08814	0.05264	0.11102	N	AEFDBCIJ	0.055996	0.10315	N	-0.851005316199243	0.12026	0.583689	-0.836019753879837	0.13624	0.7077709	0.999960463169472	0.48965	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.63	1.77	0.23848	0.293000	0.18785	0.073000	0.14287	0.665000	0.62972	0.253000	0.24879	0.016000	0.20520	0.720000	0.34772	0.198:0.1002:0.1636:0.5381	1.380	0.02094	945	0.12563	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1683.98	36	chr18	59454948	.	T	C	1683.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.170e+00;DP=872;ExcessHet=0.0000;FS=1.302;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.39;ReadPosRankSum=0.037;SOR=0.571	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1327	20	0	1	0
chr18	59466793	59466793	G	A	exonic	CCBE1	.	nonsynonymous SNV	CCBE1:NM_133459:exon5:c.C499T:p.R167W,	Hennekam lymphangiectasia-lymphedema syndrome 1, Autosomal recessive	.	0	1482	35	5	0	45	0.0149551	.	.	256713	not_specified|not_provided|Hennekam_lymphangiectasia-lymphedema_syndrome_1	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510,Orphanet:2136	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	0.99	D	0.659	P	0.125	N	1.000	D	1.5	L	-2.99	D	0.667	D	0.760	D	0.224	3.494	17.87	5.23	2.444	7.151	17.568	0.491	.	0.0011	0.00339457	0.0028	0.0012	0.0005	0.0002	0	0.0005	0.0055	0.0170	0.0024385	377	154602	rs116675104	0.0013	0.0013	0.0008	0.0018	0.0162	0.0013	0.0012	0.0155	0.0152	0.0008	0.0007	7.653e-05	0.0001	1.873e-05	0.0104	0.0003	0.0018	0.0162	0.0011	0.0011	0.0010	0.0012	0.0149	0.0010	0.0009	0.0121	0.0111	0.0011	0	0.0003	0.0003	0.0004	9.464e-05	0.0034	0.0006	0.0009	0.0149	0.004	0.65419	D	0.017	0.69154	D	0.99	0.63424	D	0.659	0.52771	P	0.124953	0.18861	N	0.555420	1	0.81001	D	1.275	0.32135	L	-2.99	0.92108	D	-0.2	0.10136	N	0.379	0.42050	0.667	0.92753	D	0.760	0.91837	D	10	0.0058504045	0.00131	T	.	.	.	0.491	0.77783	.	.	0.974974424672	0.97470	0.6092467593932845	0.60856	0.280682384757	0.30544	0.206684857607	0.00678	T	0.364484	0.73007	T	-0.271512	0.11589	T	-0.149159	0.59319	T	0.0430179458999892	0.04242	T	0.920308	0.71398	D	0.14177458	0.32655	0.122777	0.29613	0.16005932	0.35921	0.10345569	0.24822	-7.477	0.57448	T	0.10868127610451947	0.08988	0.101	0.17700	B	.;.;.	.;.;.	4.615415	0.73231	26.0	0.99909106585150176	0.97875	0.97824	0.77403	D	AEFBI	0.876312	0.80025	D	0.445103202299717	0.63926	4.636052	0.414226687897752	0.62450	4.460618	0.999999999999803	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.23	5.23	0.72570	7.305000	0.78209	11.719000	0.94784	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.071000	0.16709	0.0:0.0:1.0:0.0	17.568	0.87825	821	0.40814	EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1005.98	34	chr18	59466793	.	G	A	1005.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.91;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.40;ReadPosRankSum=1.49;SOR=0.764	GT:AD:DP:GQ:PL	0/1:64,43:107:99:1020,0,1409	20	0	1	0
chr18	62716105	62716105	C	G	exonic	PHLPP1	.	nonsynonymous SNV	PHLPP1:NM_194449:exon1:c.C422G:p.S141W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	0.994	D	0.345	N	1.47	T	-1.055	T	0.049	T	0.391	2.106	13.00	0.817	1.162	2.862	5.421	0.092	0.388389834585	.	.	0.0001	0	0	0	0	0	0	0.0002	1.29e-05	2	154602	rs770977672	1.772e-05	1.71e-05	1.747e-05	1.798e-05	0.0002	1.199e-05	1.008e-05	9.096e-05	7.123e-05	3.586e-05	0	0	0.0001	0	0	9.37e-07	0.0001	0.0002	1.975e-05	1.969e-05	2.576e-05	1.347e-05	0.0004	5.25e-06	2.46e-06	6.949e-05	2.902e-05	0	0	0	0	0.0004	9.47e-05	0	0	0	0	0.001	0.78490	D	0.024	0.56640	D	.	.	.	.	.	.	.	.	.	.	0.994341	0.42247	D	0.55	0.14455	N	1.47	0.31987	T	-0.94	0.25118	N	0.332	0.37301	-1.0547	0.13119	T	0.049	0.20987	T	7	0.19669002	0.35571	T	0.38839	0.93132	D	0.092	0.26621	0.35	0.34760	0.284112513307	0.28011	0.16172131375778948	0.16093	2.01563215202	0.93938	0.874793946743	0.93247	D	0.109055	0.42260	T	-0.221948	0.17727	T	-0.301543	0.44562	T	0.227706782313706	0.21842	T	0.576042	0.20701	T	0.17199712	0.37865	0.2499546	0.50577	0.17199712	0.37865	0.2499546	0.50576	-11.192	0.80700	D	.	.	0.334	0.55501	B	.	.	2.962028	0.39448	21.0	0.984568309779975	0.41688	0.42091	0.26802	N	ALL	0.092856	0.18794	N	-0.178710726801247	0.34022	1.936971	-0.169938192319504	0.32649	1.859579	0.999999999998841	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.492483	0.08430	1	.	.	2.93	0.817	0.17914	-0.353000	0.07740	5.610000	0.49052	0.375000	0.20354	0.000000	0.06391	0.996000	0.32793	0.357000	0.25818	0.1985:0.6793:0.0:0.1222	5.421	0.15700	945	0.12563	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	283.98	25	chr18	62716105	.	C	G	283.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.433;DP=722;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.10;ReadPosRankSum=-1.986e+00;SOR=0.526	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1051	20	0	1	0
chr18	62716650	62716650	T	C	exonic	PHLPP1	.	nonsynonymous SNV	PHLPP1:NM_194449:exon1:c.T967C:p.S323P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	.	.	.	.	.	.	1.000	D	0.695	N	1.68	T	-1.073	T	0.043	T	0.181	1.113	9.539	1.2	0.079	0.132	5.173	0.014	0.209079773241	.	.	0.0009	0	0	0	0	0.0043	0	0	0.0001552	24	154602	rs747843451	0.0031	0.0028	0.0032	0.0029	0.0037	0.0030	0.0030	0.0036	0.0035	0.0003	0.0004	0	0	0.0012	0.0002	0.0037	0.0023	0.0003	0.0020	0.0020	0.0022	0.0019	0.0039	0.0018	0.0018	0.0035	0.0034	0.0006	0	0.0003	0	0	0.0009	0	0.0039	0.0005	0.0002	0.24	0.17701	T	0.165	0.30926	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	0	0.06538	N	1.68	0.27184	T	-0.45	0.14782	N	0.327	0.36779	-1.0732	0.08724	T	0.043	0.18410	T	7	0.0064120293	0.00145	T	0.20908	0.87180	D	0.014	0.01968	.	.	0.165150595986	0.16160	0.07396429495760078	0.07333	1.9161241583	0.92946	0.748632013798	0.74245	T	0.063633	0.32225	T	-0.555101	0.00272	T	-0.570979	0.15359	T	0.0214655142877601	0.00850	T	0.40416	0.10358	T	0.08981826	0.20998	0.11667715	0.28166	0.08981826	0.20998	0.11667715	0.28165	-4.348	0.28844	T	.	.	0.093	0.13969	B	.	.	1.231876	0.16270	12.43	0.96568708381646373	0.30286	0.04321	0.09877	N	AEFDBHCI	0.066518	0.13029	N	-0.569832392208126	0.19865	1.043066	-0.664964629199136	0.17839	0.9503554	0.999952475108944	0.48110	0.455138	0.09556	0	0.435331	0.06439	0	0.391439	0.06340	0	0.56751	0.32155	0	.	.	2.49	1.2	0.20181	0.694000	0.25190	0.598000	0.19894	0.555000	0.28237	0.020000	0.19661	0.283000	0.24120	0.122000	0.19250	0.0:0.0:0.3057:0.6943	5.173	0.14449	941	0.13089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1080.98	35	chr18	62716650	.	T	C	1080.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.100e-01;DP=822;ExcessHet=0.0000;FS=0.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=0.357;SOR=0.825	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1028	20	0	1	0
chr18	63318540	63318540	C	T	exonic	BCL2	.	nonsynonymous SNV	BCL2:NM_000633:exon2:c.G127A:p.A43T	Leukemia/lymphoma, B-cell	.	0	1490	31	1	0	33	0.0109525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	0.994	D	0.664	P	0.585	U	0.999	N	0.55	N	3.66	T	-0.983	T	0.001	T	0.099	0.282	5.526	1.57	0.127	0.209	7.734	0.064	.	0.0007	0.0397364	0.0190	0.0015	0.0005	0.0904	0	0.0003	0.0099	0.0917	0.0160153	2476	154602	rs1800477	0.0071	0.0073	0.0050	0.0093	0.0790	0.0070	0.0070	0.0774	0.0768	0.0004	0.0006	0	0.0681	2.097e-05	0.0032	0.0002	0.0128	0.0790	0.0068	0.0068	0.0052	0.0085	0.0896	0.0064	0.0063	0.0828	0.0802	0.0015	0	0.0029	0	0.0896	0.0002	0	0.0002	0.0128	0.0868	0.686	0.04353	T	0.672	0.07766	T	0.994	0.66517	D	0.664	0.52930	P	0.584839	0.05557	U	1.321060	0.999483	0.21117	N	0.975	0.24501	L	3.66	0.04228	T	-0.28	0.11547	N	0.018	0.00407	-0.9828	0.34351	T	0.001	0.00318	T	10	0.0017367601	0.00022	T	.	.	.	0.064	0.18567	.	.	.	.	0.3542840710471905	0.35342	0.850350720984	0.68505	0.56729799509	0.48295	T	0.372533	0.73670	T	-0.710834	0.00032	T	-0.716363	0.04974	T	0.0035515613756084	0.00038	T	0.49985	0.15613	T	0.028242368	0.02132	0.052725133	0.08743	0.028242368	0.02131	0.052725133	0.08742	-4.715	0.33585	T	.	.	0.067	0.03266	B	.;.;.	.;.;.	0.909965	0.12842	9.357	0.98120820459476421	0.38432	0.02731	0.07400	N	AEFDBHCI	0.062385	0.11989	N	-0.851366503132075	0.12016	0.5832008	-0.916413075350327	0.11707	0.5980686	0.999999744067704	0.74766	0.455138	0.09556	0	0.52208	0.09955	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	4.33	1.57	0.22490	-0.025000	0.12361	-0.771000	0.07495	-0.254000	0.07082	0.009000	0.18154	0.013000	0.20296	0.002000	0.04165	0.0:0.6723:0.0:0.3277	7.734	0.27969	874	0.30607	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3534.11	35	chr18	63318540	.	C	T	3534.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.567;DP=919;ExcessHet=0.1072;FS=3.812;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.30;ReadPosRankSum=-1.050e-01;SOR=0.474	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	19	0	2	0
chr18	63351009	63351009	C	T	exonic	KDSR	.	nonsynonymous SNV	KDSR:NM_002035:exon6:c.G488A:p.R163H,	Lymphoma/leukemia, B-cell, variant (1)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.992	D	0.000	D	1.000	D	2.075	M	-2.67	D	0.790	D	0.841	D	0.731	5.679	36	5.95	2.824	7.818	20.393	0.684	0.139069495198	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1374415594	9.585e-06	9.578e-06	6.813e-06	1.238e-05	1.08e-05	5.56e-06	4.35e-06	5.76e-06	4.55e-06	0	0	0	0	1.872e-05	0	1.08e-05	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.029	0.54541	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.046294	1	0.81001	D	2.2	0.62015	M	-2.67	0.90332	D	-3.43	0.67359	D	0.81	0.80572	0.790	0.94283	D	0.841	0.94677	D	10	0.7782662	0.77638	D	0.139069	0.82155	D	0.684	0.88443	0.51	0.60693	0.871323320213	0.87007	0.8418157764441112	0.84141	1.10155356664	0.77751	0.823471665382	0.85561	D	0.797789	0.94811	D	0.264549	0.79947	D	0.14223	0.79689	D	0.976192653179169	0.71270	D	0.960404	0.86020	D	0.29960656	0.52870	0.23007621	0.48099	0.29960656	0.52869	0.23007621	0.48098	-11.488	0.82267	D	.	.	0.500	0.64577	A	.;.;.	.;.;.	5.526542	0.91831	32	0.999543220592641	0.99963	0.98996	0.89714	D	AEFBI	0.942472	0.94711	D	0.8860537270378	0.91059	10.69594	0.887143920921449	0.94988	13.21234	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	5.95	0.96415	7.905000	0.86479	7.605000	0.61698	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.393	0.98966	855	0.34697	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	149.98	63	chr18	63351009	.	C	T	149.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.457e+00;DP=937;ExcessHet=0.0000;FS=132.020;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.39;ReadPosRankSum=2.32;SOR=6.089	GT:AD:DP:GQ:PL	0/1:89,19:109:99:164,0,2957	20	0	1	0
chr18	63597110	63597110	C	T	exonic	SERPINB13	.	nonsynonymous SNV	SERPINB13:NM_001348269:exon6:c.C386T:p.A129V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.955	P	0.472	P	0.222	N	1.000	N	1.31	L	-1.87	D	-0.629	T	0.407	T	0.095	1.850	12.14	1.97	0.582	-0.142	5.869	0.147	0.0166946469369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.18626	T	0.68	0.07444	T	0.955	0.54515	P	0.472	0.46817	P	0.222329	0.16109	N	0.561708	1	0.08975	N	1.45	0.36711	L	-1.87	0.84415	D	-1.2	0.30555	N	0.064	0.03613	-0.6293	0.63601	T	0.407	0.75692	T	10	0.49965242	0.61472	T	0.016695	0.38080	T	0.147	0.38986	0.482	0.56302	0.6544015285	0.65151	0.5185312404041711	0.51776	0.0328635747736	0.03436	0.259542405605	0.04837	T	0.092998	0.39120	T	-0.161923	0.26466	T	-0.470368	0.25476	T	0.337232410907745	0.26513	T	0.327667	0.06803	T	0.057525843	0.11460	0.06507007	0.13137	0.057525843	0.11459	0.06507007	0.13136	-3.919	0.22587	T	.	.	0.105	0.27821	B	.;.	.;.	0.972460	0.13494	10.02	0.96171112765781852	0.28930	0.03965	0.09373	N	AEFGBI	0.091394	0.18513	N	-0.706679804523077	0.15834	0.8014813	-0.782807714644571	0.14917	0.7819073	0.044924931494624	0.14632	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.3	1.97	0.25278	-0.140000	0.10323	-1.242000	0.05930	-0.228000	0.07776	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4822:0.3824:0.1354	5.869	0.18039	916	0.20744	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1527.98	114	chr18	63597110	.	C	T	1527.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.105e+00;DP=2086;ExcessHet=0.0000;FS=3.170;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=-7.850e-01;SOR=0.985	GT:AD:DP:GQ:PL	0/0:88,0:88:99:0,120,1800	20	0	1	0
chr18	63637976	63637976	T	G	exonic	SERPINB4	.	nonsynonymous SNV	SERPINB4:NM_002974:exon8:c.A916C:p.N306H	.	.	420	1100	1	0	1	2	0.000454339	.	.	3311027	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.001	B	0.003	B	0.086	N	1.000	N	1.1	L	-1.68	D	-1.026	T	0.098	T	0.055	1.548	11.13	2.73	0.634	1.000	10.088	0.196	0.0114363561201	0.0002	.	0.0003	0	0	0	0	0.0005	0	0	0.0002458	38	154602	rs199573595	0.0002	0.0002	0.0002	0.0002	2.968e-05	0.0002	0.0001	2.117e-05	1.862e-05	0	0	0.0070	0	0	0	2.968e-05	0.0005	0	0.0002	0.0002	0.0002	0.0001	.	0.0001	0.0001	.	.	0	0	0	0.0081	0	0	0	0	0.0005	0	0.032	0.44694	D	0.02	0.58613	D	0.001	0.07471	B	0.003	0.08700	B	0.086363	0.20591	N	0.341364	1	0.08975	N	0.525	0.13617	N	-1.68	0.82897	D	-1.71	0.40660	N	0.076	0.05037	-1.0257	0.21853	T	0.098	0.36651	T	10	0.00910148	0.00206	T	0.011436	0.29067	T	0.196	0.47777	.	.	0.425499470309	0.42167	0.2491818284149487	0.24832	0.00978697404399	0.00889	.	.	.	0.181099	0.53266	T	-0.24967	0.14138	T	-0.465959	0.25952	T	0.0232180197173724	0.01050	T	0.174083	0.01670	T	0.06708554	0.14496	0.05135617	0.08247	0.06708554	0.14495	0.05135617	0.08246	-6.184	0.47793	T	.	.	0.175	0.38318	B	.	.	1.132097	0.15185	11.66	0.95130855168726292	0.26240	0.19854	0.20821	N	AEGCI	0.127087	0.24431	N	-0.667609219102752	0.16949	0.8680263	-0.775996226770968	0.15085	0.791573	2.66374471248E-4	0.06244	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	4.51	2.73	0.31266	1.244000	0.32381	-0.185000	0.11094	-0.177000	0.10537	0.374000	0.25957	0.000000	0.08366	0.001000	0.02609	0.0:0.835:0.0:0.165	10.088	0.41601	957	0.09725	Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3070.98	34	chr18	63637976	.	T	G	3070.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.706;DP=905;ExcessHet=0.0000;FS=0.516;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.98;MQRankSum=-8.790e-01;QD=15.05;ReadPosRankSum=-1.750e+00;SOR=0.765	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1203	20	0	1	0
chr18	63723131	63723131	T	C	exonic	SERPINB11	.	nonsynonymous SNV	SERPINB11:NM_001291278:exon6:c.T650C:p.L217P	.	.	417	1098	7	0	0	7	0.00317749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.755	H	2.14	T	0.803	D	0.803	D	0.804	2.982	15.94	4.96	1.975	7.688	14.098	0.786	0.0409360730843	0.0037	0.00139776	0.0039	0.0012	0.0079	0	0.0021	0.0053	0.0024	0.0002	0.0039262	607	154602	rs192457429	0.0053	0.0054	0.0054	0.0053	0.0063	0.0052	0.0052	0.0062	0.0061	0.0011	0.0062	0.0003	2.528e-05	0.0014	0.0052	0.0063	0.0051	0.0005	0.0038	0.0038	0.0040	0.0037	0.0062	0.0036	0.0035	0.0057	0.0055	0.0010	0.0033	0.0056	0.0012	0.0002	0.0008	0.0136	0.0062	0.0066	0.0004	.	.	.	0.003	0.79402	D	.	.	.	.	.	.	0.000494	0.43931	D	0.000000	0.999813	0.81001	D	.	.	.	-2.34	0.87989	D	-5.6	0.86608	D	0.657	0.75374	0.803	0.94444	D	0.803	0.93351	D	10	0.10671994	0.19789	T	0.040936	0.59652	D	0.786	0.92908	.	.	0.903140535234	0.90217	0.8610644739727862	0.86070	0.0908232463567	0.10252	0.482087314129	0.36345	T	.	.	.	0.0986318	0.64145	D	0.374592	0.91236	D	0.0718692801048032	0.08911	T	0.816718	0.62120	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.837	0.79096	P	.;.;.;.	.;.;.;.	4.757209	0.76871	26.6	0.99880724522742492	0.95653	0.98882	0.88116	D	AEFGBI	0.900473	0.84604	D	0.729625810028956	0.81575	7.554375	0.568024246200687	0.72661	5.845088	0.999999604533057	0.74766	0.055872	0.00684	0	0.059962	0.00310	0	0.067067	0.01885	0	0.057018	0.00518	0	.	.	4.96	4.96	0.65153	7.752000	0.84018	7.824000	0.69857	0.609000	0.47794	0.979000	0.35152	0.993000	0.31925	0.921000	0.45669	0.0:0.0:0.0:1.0	14.098	0.64561	955	0.09969	Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2180.98	148	chr18	63723131	.	T	C	2180.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.666;DP=2644;ExcessHet=0.0000;FS=1.921;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=-6.800e-02;SOR=0.856	GT:AD:DP:GQ:PL	0/0:135,0:135:99:0,120,1800	20	0	1	0
chr18	63917505	63917505	A	-	exonic	SERPINB10	.	frameshift deletion	SERPINB10:NM_005024:exon3:c.218delA:p.R76Gfs*7,	.	.	505	1000	17	0	0	17	0.00842836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0293	.	0.0081	0.0051	0.0100	0.0086	0.0055	0.0092	0.0093	0.0057	0.0002305	6	26028	rs779494900	0.0011	0.0039	0.0011	0.0011	0.0016	0.0011	0.0010	0.0013	0.0012	0.0007	0.0016	0.0005	0.0004	0.0002	0.0010	0.0012	0.0009	0.0009	0.0003	0.0003	0.0004	0.0002	0.0006	0.0003	0.0002	0.0005	0.0004	0.0002	0	6.724e-05	0	0	0	0	0.0006	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	34.55	31	chr18	63917504	.	GA	G	34.55	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-6.170e-01;DP=508;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.0944;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.44;ReadPosRankSum=0.197;SOR=0.822	GT:AD:DP:GQ:PL	0/0:25,0:27:75:0,75,716	17	0	4	0
chr18	63918068	63918068	C	A	exonic	SERPINB10	.	nonsynonymous SNV	SERPINB10:NM_005024:exon4:c.C338A:p.A113E,	.	.	437	1065	19	0	1	20	0.00884132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.503	P	0.165	B	0.104	N	1.000	N	2.14	M	-1.87	D	-0.336	T	0.499	T	0.355	1.183	9.811	3.07	0.805	1.850	9.162	0.340	.	.	0.00259585	0.0018	0.0003	0.0006	0	0	0.0009	0.0022	0.0089	0.0015653	242	154602	rs150764677	0.0011	0.0011	0.0007	0.0014	0.0102	0.0010	0.0010	0.0096	0.0094	0.0001	0.0002	0.0006	0	1.875e-05	0.0050	0.0005	0.0012	0.0102	0.0007	0.0007	0.0005	0.0009	0.0089	0.0006	0.0005	0.0068	0.0061	9.638e-05	0	0.0005	0.0014	0	9.454e-05	0	0.0006	0.0019	0.0089	0.007	0.59928	D	0.016	0.60972	D	0.503	0.37206	P	0.165	0.35019	B	0.103519	0.19744	N	0.534882	1	0.08975	N	2.365	0.68172	M	-1.87	0.84415	D	0.62	0.02442	N	0.256	0.28965	-0.3362	0.73953	T	0.499	0.81033	T	10	0.0140993595	0.00297	T	.	.	.	0.340	0.66202	0.82	0.93328	0.768827659172	0.76671	0.5855384913771153	0.58482	0.0360439460579	0.03809	.	.	.	0.14396	0.48034	T	-0.307592	0.07963	T	-0.207504	0.53934	T	0.0177004433797873	0.00501	T	0.872113	0.57861	D	0.083175056	0.19196	0.16915773	0.38929	0.083175056	0.19196	0.16915773	0.38928	-6.628	0.51267	T	.	.	0.349	0.56501	A	.;.	.;.	1.472428	0.18966	14.02	0.88662443902899091	0.18154	0.02507	0.06998	N	AEFDGBIJ	0.035576	0.04603	N	-0.511846940848905	0.21696	1.153322	-0.585779298301498	0.19863	1.067659	0.999977401777019	0.50053	0.706298	0.61202	0	0.709663	0.81188	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.83	3.07	0.34476	0.841000	0.27267	3.512000	0.38846	-0.184000	0.09925	0.001000	0.13787	0.744000	0.26502	0.221000	0.22489	0.0779:0.2951:0.627:0.0	9.162	0.36189	960	0.08626	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2036.11	33	chr18	63918068	.	C	A	2036.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.68;DP=954;ExcessHet=0.1072;FS=1.570;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=7.80;ReadPosRankSum=1.67;SOR=0.581	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1183	19	0	2	0
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.073	N	0.983	D	-3.46	N	1.84	T	-0.904	T	0.008	T	0.124	-0.621	1.242	3.76	1.045	2.422	13.494	0.155	0.00490096248541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.072800	0.21387	N	0.451193	0.982979	0.39957	D	-3.075	0.00011	N	1.84	0.24656	T	3.87	0.00076	N	0.227	0.25499	-0.9038	0.47583	T	0.008	0.02884	T	10	0.04493016	0.03505	T	0.004901	0.12318	T	0.155	0.40530	0.546	0.66015	0.15499578495	0.15088	0.21276109158363124	0.21192	0.352591177131	0.37089	0.615600824356	0.55106	T	0.044351	0.26789	T	-0.291422	0.09494	T	-0.656384	0.08512	T	0.0723997502850542	0.08984	T	0.824517	0.48627	T	0.09681208	0.22810	0.12931228	0.31094	0.09681208	0.22809	0.12931228	0.31094	3.359	0.00015	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	2.090507	0.26594	17.17	0.15872056406126045	0.00404	0.74711	0.36555	D	AEFDGBI	0.136260	0.25686	N	-0.923050984542219	0.10304	0.4917672	-0.581236897984816	0.19982	1.074571	0.870688873629593	0.25410	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.65	3.76	0.42368	1.558000	0.35917	3.329000	0.37611	0.589000	0.31548	0.946000	0.32893	0.998000	0.33993	0.969000	0.54022	0.0:0.7002:0.2998:0.0	13.494	0.60866	994	0.00715	Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	4590.35	69	chr18	65824683	.	C	G	4590.35	.	AC=20;AF=0.500;AN=40;BaseQRankSum=0.297;DP=1960;ExcessHet=43.6797;FS=200.513;InbreedingCoeff=-0.9189;MLEAC=20;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.74;ReadPosRankSum=1.02;SOR=12.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,28:90:99:0|1:65824683_C_G:223,0,1247:65824683	0	0	20	1
chr18	68714963	68714963	A	G	exonic	TMX3	.	nonsynonymous SNV	TMX3:NM_001350512:exon1:c.T19C:p.W7R	.	.	422	1096	4	0	0	4	0.00182149	.	.	1253844	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.36	T	0.001	B	0.003	B	0.119	N	1.000	N	1.15	L	2.99	T	-0.987	T	0.001	T	0.556	0.460	6.499	-4.55	-1.056	-0.521	0.223	0.240	.	0.0005	0.014377	0.0125	0	0.0132	0.1894	0	0.0008	0.0155	0.0042	0.0045795	708	154602	rs117138050	0.0027	0.0028	0.0027	0.0028	0.0808	0.0027	0.0026	0.0784	0.0774	0.0001	0.0027	0.0014	0.0808	4.009e-05	0.0007	0.0002	0.0049	0.0040	0.0033	0.0034	0.0028	0.0039	0.0835	0.0031	0.0030	0.0770	0.0744	0.0001	0	0.0016	0.0014	0.0835	0	0	0.0002	0.0033	0.0039	0.301	0.14449	T	0.172	0.39954	T	0.0	0.07471	B	0.0	0.08700	B	0.118738	0.02706	N	1.755810	1	0.08975	N	1.545	0.39105	L	2.94	0.11189	T	-1.14	0.29323	N	0.035	0.11197	-0.9866	0.33445	T	0.001	0.00222	T	10	0.002065301	0.00029	T	.	.	.	0.240	0.54500	0.78	0.90465	0.0401082797425	0.02173	0.32586542069284663	0.32499	0.462295369648	0.45768	0.368940383196	0.20679	T	0.027107	0.19921	T	-0.568019	0.00227	T	-0.520152	0.20278	T	0.00665025288293701	0.00075	T	0.282272	0.04954	T	0.10535578	0.24909	0.05482436	0.09501	0.10535578	0.24908	0.05482436	0.09500	-3.651	0.18597	T	.	.	0.086	0.29255	B	.;.;.	.;.;.	0.358901	0.07319	3.929	0.55278752470472881	0.05309	0.00628	0.02764	N	AEFGBHCIJ	0.022585	0.01147	N	-1.53062669744398	0.01651	0.07222887	-1.63151028941852	0.01474	0.06670821	0.999999997626916	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.67	-4.55	0.03197	-0.735000	0.04992	0.688000	0.20738	-0.870000	0.02561	0.000000	0.06391	0.120000	0.22892	0.001000	0.02609	0.3067:0.2297:0.2396:0.224	0.223	0.00159	988	0.01987	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	468.98	33	chr18	68714963	.	A	G	468.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.08;DP=759;ExcessHet=0.0000;FS=3.825;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.69;ReadPosRankSum=0.714;SOR=1.362	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,979	20	0	1	0
chr18	69599445	69599445	C	T	exonic	DOK6	.	nonsynonymous SNV	DOK6:NM_152721:exon3:c.C236T:p.A79V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	1.0	D	1.0	D	0.000	D	1.000	D	1.935	M	-0.87	T	-0.197	T	0.544	D	0.765	4.653	25.6	5.91	2.802	7.786	19.287	0.482	0.218671412093	0.0021	0.000599042	0.0023	0.0004	0.0004	0	0.0036	0.0035	0	0.0011	0.0023415	362	154602	rs140434706	0.0024	0.0024	0.0025	0.0023	0.0027	0.0024	0.0023	0.0027	0.0026	0.0004	0.0004	0.0032	0	0.0034	0	0.0027	0.0020	0.0009	0.0018	0.0018	0.0020	0.0017	0.0028	0.0016	0.0016	0.0025	0.0024	0.0005	0	0.0005	0.0046	0	0.0035	0	0.0028	0.0005	0.0004	0.012	0.54683	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000009	0.62929	D	0.111009	1	0.81001	D	2.19	0.61577	M	-0.87	0.74583	T	-2.72	0.57920	D	0.86	0.85660	-0.1972	0.77743	T	0.544	0.83237	D	10	0.097052634	0.17451	T	0.218671	0.87670	D	0.482	0.77206	.	.	0.868088311468	0.86681	0.6854584183201249	0.68484	1.20013741899	0.80515	0.843580663204	0.88640	D	0.133043	0.46349	T	-0.129557	0.31567	T	0.0390187	0.72864	D	0.022445248439908	0.00959	T	0.940606	0.77652	D	0.31609327	0.54307	0.24892	0.50453	0.31609327	0.54308	0.24892	0.50452	-8.119	0.61879	D	.	.	0.975	0.90154	P	.	.	5.129448	0.85831	28.7	0.99913969856457574	0.98238	0.98584	0.84372	D	AEFGI	0.946421	0.95586	D	0.6810050895877	0.78387	6.861523	0.667707085543511	0.79936	7.188886	0.999999997442914	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.91	5.91	0.95240	7.876000	0.85623	7.515000	0.59676	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.392000	0.26603	0.0:1.0:0.0:0.0	19.287	0.94064	955	0.09969	Pleckstrin homology domain|DOK4/5/6, PH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	966.98	36	chr18	69599445	.	C	T	966.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.994;DP=767;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=1.28;SOR=0.752	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1620	20	0	1	0
chr18	70006461	70006461	C	T	exonic	RTTN	.	nonsynonymous SNV	RTTN:NM_001318520:exon46:c.G3709A:p.A1237T	Microcephaly, short stature, and polymicrogyria with seizures, Autosomal recessive	.	9	1497	15	1	0	17	0.00564596	.	.	135641	not_provided|not_specified|RTTN-related_disorder|Microcephalic_primordial_dwarfism_due_to_RTTN_deficiency	MedGen:C3661900|MedGen:CN169374|.|MONDO:MONDO:0018764,MedGen:C3553831,OMIM:614833,Orphanet:468631	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.67	T	0.001	B	0.003	B	0.096	N	1.000	D	0.895	L	0.8	T	-1.086	T	0.047	T	0.246	0.793	8.179	1.11	0.231	-0.538	4.895	0.059	0.00659585078721	0.0058	0.00299521	0.0057	0.0004	0.0028	0	0.0083	0.0086	0.0078	0.0014	0.0057244	885	154602	rs34989098	0.0062	0.0062	0.0061	0.0063	0.0070	0.0061	0.0061	0.0069	0.0068	0.0007	0.0047	0.0044	2.521e-05	0.0097	0.0043	0.0070	0.0053	0.0011	0.0061	0.0061	0.0063	0.0059	0.0092	0.0058	0.0056	0.0085	0.0082	0.0009	0	0.0092	0.0052	0.0002	0.0084	0	0.0091	0.0080	0.0015	0.641	0.04987	T	0.886	0.03170	T	0.001	0.07471	B	0.003	0.08700	B	0.095964	0.20098	N	0.491376	1	0.81001	D	1.725	0.44537	L	0.8	0.48769	T	0.05	0.06369	N	0.095	0.07535	-1.0860	0.06227	T	0.047	0.20275	T	10	0.00667727	0.00151	T	0.006596	0.17386	T	0.059	0.16972	.	.	0.0954503805726	0.09146	0.0430729865101976	0.04252	0.0678493212606	0.07595	0.267887085676	0.05867	T	0.021934	0.17000	T	-0.516657	0.00460	T	-0.505523	0.21776	T	0.00433808880377373	0.00046	T	0.692631	0.31245	T	0.033694975	0.03639	0.048189342	0.07105	0.035504002	0.04190	0.048189342	0.07105	-3.471	0.17915	T	0.11479793417717615	0.10198	0.077	0.06433	B	.;.;.	.;.;.	0.961669	0.13381	9.888	0.8686741465769553	0.16827	0.03624	0.08865	N	AEFGBI	0.038494	0.05455	N	-0.879440298585642	0.11333	0.5463388	-0.829270200645972	0.13787	0.717094	0.898267252993684	0.26022	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.1	1.11	0.19640	-0.376000	0.07522	-0.669000	0.07943	0.549000	0.26987	0.225000	0.24590	0.000000	0.08366	0.782000	0.36987	0.2547:0.4962:0.0:0.2492	4.895	0.13103	977	0.04225	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	677.98	34	chr18	70006461	.	C	T	677.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.510e-01;DP=763;ExcessHet=0.0000;FS=6.220;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.80;ReadPosRankSum=-3.080e-01;SOR=1.472	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1204	20	0	1	0
chr18	70020730	70020730	C	A	exonic	RTTN	.	nonsynonymous SNV	RTTN:NM_001318520:exon44:c.G3302T:p.C1101F	Microcephaly, short stature, and polymicrogyria with seizures, Autosomal recessive	.	9	1472	39	2	0	43	0.0143957	.	.	135637	not_provided|RTTN-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.989	D	0.689	P	0.028	N	0.545	D	1.79	L	0.66	T	-0.619	T	0.136	T	0.585	2.332	13.75	6.07	2.890	1.913	10.571	0.171	.	0.0061	0.00419329	0.0071	0.0015	0.0046	0	0.0008	0.0085	0.0033	0.0128	0.0068563	1060	154602	rs145976466	0.0079	0.0079	0.0078	0.0081	0.0206	0.0078	0.0078	0.0176	0.0165	0.0017	0.0047	0.0046	5.039e-05	0.0019	0.0206	0.0085	0.0067	0.0129	0.0054	0.0054	0.0053	0.0054	0.0084	0.0051	0.0050	0.0078	0.0076	0.0012	0.0197	0.0077	0.0037	0	0.0009	0.0034	0.0084	0.0043	0.0070	0.03	0.45393	D	0.032	0.53426	D	0.989	0.62824	D	0.689	0.53736	P	0.027691	0.25717	N	0.454682	0.544657	0.32083	D	1.95	0.52479	M	0.66	0.52416	T	-1.77	0.41809	N	0.369	0.41063	-0.6193	0.64018	T	0.136	0.45068	T	10	0.005443305	0.00120	T	.	.	.	0.171	0.43483	.	.	0.510230903827	0.50662	0.30996790440081773	0.30909	0.167520044428	0.18895	0.308870136738	0.11737	T	0.139244	0.47317	T	-0.365889	0.03808	T	-0.287319	0.46051	T	0.00781058271793566	0.00092	T	0.835416	0.52437	T	0.12677795	0.29686	0.09754753	0.23223	0.10329817	0.24415	0.11255301	0.27158	-2.083	0.03512	T	0.5437217846477904	0.61307	0.209	0.43640	B	.;.;.	.;.;.	2.770700	0.36367	20.2	0.98568032777208736	0.43063	0.58772	0.30732	D	AEFGBI	0.235831	0.35837	N	0.419131343728332	0.62475	4.463965	0.404103181547507	0.61821	4.387615	0.999810614893077	0.43459	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	6.07	6.07	0.98675	1.717000	0.37612	4.040000	0.41416	0.599000	0.40250	0.174000	0.23986	0.999000	0.35428	0.555000	0.30293	0.0:0.8541:0.0:0.1459	10.571	0.44388	981	0.03995	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2599.11	105	chr18	70020730	.	C	A	2599.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.966;DP=877;ExcessHet=0.1072;FS=1.100;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=0.643;SOR=0.604	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	19	0	2	0
chr18	70075407	70075407	C	T	exonic	RTTN	.	nonsynonymous SNV	RTTN:NM_001318520:exon32:c.G1773A:p.M591I	Microcephaly, short stature, and polymicrogyria with seizures, Autosomal recessive	.	9	1511	2	0	0	2	0.000661376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.001	B	0.002	B	0.111	N	0.996	D	0.205	N	0.71	T	-0.932	T	0.061	T	0.168	0.689	7.679	-8.5	-2.262	-1.604	1.057	0.089	0.0042757366094	.	.	1.664e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs760402173	7.587e-06	7.525e-06	4.114e-06	1.11e-05	0.0001	4.07e-06	2.98e-06	5.574e-05	4.171e-05	0	0	0	0	0	0	0	3.337e-05	0.0001	6.577e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.47	0.08483	T	0.513	0.10714	T	0.001	0.07471	B	0.002	0.06944	B	0.111218	0.19409	N	0.597682	0.996223	0.43084	D	1.15	0.29295	L	0.71	0.51228	T	-0.03	0.07444	N	0.173	0.18512	-0.9318	0.43874	T	0.061	0.25383	T	10	0.052659392	0.05334	T	0.004276	0.10341	T	0.089	0.25827	0.526	0.63115	0.162503812791	0.15892	0.21539050536198637	0.21455	0.0777069865228	0.08742	0.224490180612	0.01585	T	0.046525	0.27449	T	-0.435118	0.01382	T	-0.593493	0.13365	T	0.014096493975504	0.00274	T	0.666633	0.27564	T	0.055990733	0.10955	0.043538217	0.05439	0.055990733	0.10954	0.043538217	0.05438	-2.303	0.04929	T	0.1345217259613004	0.14538	0.178	0.38871	B	.;.	.;.	0.246936	0.06266	2.721	0.80572708743683286	0.13267	0.02687	0.07323	N	AEFGBI	0.035489	0.04577	N	-1.48198481529037	0.01977	0.08682478	-1.53028739903965	0.02114	0.09677238	0.985601918791818	0.30916	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.645948	0.59608	0	.	.	5.52	-8.5	0.00808	-1.560000	0.02264	-5.444000	0.01716	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.466000	0.28252	0.1835:0.2415:0.1804:0.3946	1.057	0.01492	960	0.08626	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	750.98	33	chr18	70075407	.	C	T	750.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.431e+00;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.27;ReadPosRankSum=0.066;SOR=0.671	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1228	20	0	1	0
chr18	74354063	74354063	C	A	exonic	C18orf63	.	stopgain	C18orf63:NM_001174123:exon12:c.C1796A:p.S599X,	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.009	N	1.000	A	.	.	.	.	.	.	.	.	.	8.309	40	4.78	2.697	1.755	7.350	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1223189288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009465	0.30346	N	0.154854	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.04	0.01347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.567668	0.96476	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.080322	0.97158	37	0.99516377029850189	0.68979	0.81986	0.41286	D	AEFGBI	0.084089	0.17039	N	0.723043770671935	0.81143	7.453699	0.582922091112022	0.73718	6.016227	0.547895309732653	0.21309	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.71	4.78	0.60666	1.824000	0.38710	3.288000	0.37283	-0.178000	0.10482	1.000000	0.71638	0.998000	0.33993	0.527000	0.29637	0.0:0.7417:0.1708:0.0875	7.350	0.25860	988	0.01987	Domain of unknown function DUF4708	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1217.98	56	chr18	74354063	.	C	A	1217.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.648;DP=1063;ExcessHet=0.0000;FS=2.565;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=-7.990e-01;SOR=0.977	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1620	20	0	1	0
chr18	74633603	74633603	A	G	exonic	ZNF407	.	nonsynonymous SNV	ZNF407:NM_001146189:exon1:c.A2584G:p.I862V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.537	P	0.203	B	0.369	N	0.574	N	1.07	L	1.66	T	-1.023	T	0.060	T	0.221	2.821	15.40	5.63	2.144	4.985	6.030	0.159	0.00442797101939	.	.	1.656e-05	0.0001	0	0	0	1.499e-05	0	0	1.94e-05	3	154602	rs763401913	7.594e-05	7.593e-05	8.576e-05	6.601e-05	9.893e-05	6.424e-05	6.005e-05	8.39e-05	7.806e-05	0	0	0	0	0	0	9.893e-05	1.656e-05	0	1.971e-05	1.97e-05	2.569e-05	1.344e-05	4.823e-05	5.24e-06	2.45e-06	7.99e-06	2.99e-06	4.823e-05	0	0	0	0	0	0	1.47e-05	0	0	0.446	0.09806	T	1.0	0.01155	T	0.537	0.37852	P	0.203	0.37000	B	0.368918	0.04350	N	1.372850	0.574149	0.31154	N	0.34	0.10450	N	1.66	0.27486	T	0.0	0.07444	N	0.148	0.15046	-1.0232	0.22671	T	0.060	0.24981	T	10	0.046096444	0.03758	T	0.004428	0.10844	T	0.159	0.41286	0.335	0.32329	0.416204396243	0.41236	0.16169674623230695	0.16090	0.114439556271	0.12903	0.506824016571	0.39779	T	0.023772	0.18084	T	-0.370092	0.03589	T	-0.532719	0.19017	T	0.285297930240631	0.24393	T	0.734227	0.35555	T	0.04236513	0.06411	0.04814997	0.07091	0.04236513	0.06410	0.04814997	0.07090	-3.494	0.16348	T	.	.	0.123	0.32469	B	.;.;.;.	.;.;.;.	2.508050	0.32389	19.03	0.99821487260607666	0.90414	0.80429	0.40069	D	AEFDGBI	0.144530	0.26752	N	0.0138128920063521	0.42483	2.560544	0.188894848886064	0.49238	3.129382	0.999999997617627	0.74766	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.63	5.63	0.86108	5.026000	0.63880	9.421000	0.80755	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.7995:0.0:0.2005:0.0	6.030	0.18902	730	0.54327	.;.;.;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	7102.98	36	chr18	74633603	.	A	G	7102.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.805;DP=4626;ExcessHet=0.0000;FS=1.729;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=1.81;SOR=0.581	GT:AD:DP:GQ:PL	0/1:295,275:570:99:7117,0,8005	20	0	1	0
chr18	75208954	75208954	C	A	exonic	ZADH2	.	nonsynonymous SNV	ZADH2:NM_175907:exon1:c.G105T:p.K35N,	.	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.991	D	0.752	P	0.001	D	1.000	D	2.455	M	3.31	T	-1.085	T	0.010	T	0.23	4.424	23.5	3.26	1.496	6.393	12.858	0.192	.	0.0003	0.013778	0.0065	0.0011	0.0008	0.0560	0.0093	0.0006	0.0041	0.0082	0.004075	630	154602	rs200888830	0.0017	0.0018	0.0016	0.0019	0.0307	0.0017	0.0017	0.0292	0.0286	0.0005	0.0004	3.907e-05	0.0307	0.0038	0.0026	0.0002	0.0075	0.0057	0.0028	0.0028	0.0024	0.0033	0.0471	0.0026	0.0025	0.0422	0.0403	0.0009	0	0.0010	0	0.0471	0.0054	0.0034	0.0003	0.0076	0.0079	0.003	0.68238	D	0.007	0.69154	D	0.991	0.64070	D	0.752	0.56092	P	0.000638	0.42799	D	0.152042	0.99996	0.52935	D	.	.	.	3.31	0.06291	T	-3.41	0.67129	D	0.497	0.53006	-1.0853	0.06353	T	0.010	0.03856	T	10	0.007075429	0.00161	T	.	.	.	0.192	0.47115	0.61	0.74300	0.134241683229	0.13084	0.703187041522671	0.70259	0.337990986276	0.35776	0.818784475327	0.84842	D	0.168701	0.51580	T	-0.524179	0.00416	T	-0.486994	0.23705	T	0.0272169682141044	0.01574	T	0.786321	0.42483	T	0.8265696	0.85665	0.5854493	0.75960	0.8265696	0.85667	0.5854493	0.75960	-9.258	0.69343	D	.	.	0.877	0.81313	P	.	.	4.564313	0.71947	25.8	0.99682475032962647	0.79373	0.91184	0.53025	D	ALL	0.741539	0.68544	D	0.429428809927551	0.63048	4.531126	0.351772511309641	0.58615	4.033028	0.999999999987488	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.372554	0.06265	0	.	.	3.26	3.26	0.36471	5.151000	0.64720	1.710000	0.28189	0.505000	0.23025	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	12.858	0.57287	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1184.98	33	chr18	75208954	.	C	A	1184.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.089e+00;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=0.299;SOR=0.726	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1190	20	0	1	0
chr18	75288133	75288133	G	A	exonic	TSHZ1	.	nonsynonymous SNV	TSHZ1:NM_001308210:exon2:c.G2726A:p.R909Q	Aural atresia, congenital, Autosomal dominant	.	0	1510	11	1	0	13	0.00428619	.	.	347847	TSHZ1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.25	T	0.999	D	0.886	P	0.000	D	0.974	D	1.78	L	2.5	T	-1.165	T	0.083	T	0.599	1.608	11.34	4.96	-0.022	9.420	18.576	0.270	0.0333185130125	0.0017	0.00139776	0.0013	0.0003	0.0004	0	0.0005	0.0022	0	0.0002	0.0014165	219	154602	rs150180967	0.0022	0.0022	0.0022	0.0021	0.0028	0.0021	0.0021	0.0026	0.0025	0.0004	0.0012	0.0002	2.519e-05	0.0011	0.0028	0.0026	0.0017	0.0003	0.0017	0.0017	0.0018	0.0016	0.0027	0.0016	0.0015	0.0024	0.0023	0.0005	0	0.0024	0	0	0.0010	0	0.0027	0.0024	0.0008	0.166	0.23183	T	0.281	0.21612	T	0.999	0.77913	D	0.886	0.62898	P	0.000000	0.84330	D	0.000000	0.711541	0.39095	D	1.67	0.42885	L	2.5	0.17271	T	-1.39	0.34397	N	0.832	0.89465	-1.1651	0.00640	T	0.083	0.32470	T	10	0.08307493	0.13781	T	0.033319	0.54896	D	0.270	0.58507	.	.	0.550531271145	0.54709	0.5011832761362598	0.50040	1.04679910713	0.75980	0.70103085041	0.67292	T	0.242204	0.61089	T	-0.388504	0.02751	T	-0.331991	0.41246	T	0.0435036070396752	0.04330	T	0.930707	0.74322	D	0.32810152	0.55315	0.24138081	0.49534	0.3416828	0.56413	0.24574144	0.50067	-12.334	0.86676	D	.	.	0.127	0.26917	B	.;.	.;.	4.379710	0.67501	25.1	0.98630640282254034	0.43906	0.97104	0.72712	D	AEFDBI	0.721868	0.67198	D	0.337999683614596	0.58108	3.981362	0.316969315280537	0.56536	3.817114	0.626375401283448	0.21929	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	4.96	4.96	0.65153	9.602000	0.97623	8.748000	0.78215	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:0.0:1.0:0.0	18.576	0.91110	1000	0.00083	.;Homeobox domain|Homeobox domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	1886.98	35	chr18	75288133	.	G	A	1886.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.54;DP=913;ExcessHet=0.0000;FS=0.612;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=-7.180e-01;SOR=0.617	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr18	76378909	76378909	A	G	exonic	ZNF516	.	nonsynonymous SNV	ZNF516:NM_014643:exon4:c.T3205C:p.F1069L,	.	.	420	1078	22	2	0	26	0.0119157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.103	N	0.644	N	0	N	3.39	T	-0.982	T	0.035	T	0.186	-0.129	3.367	-0.563	-0.197	3.490	7.794	0.076	.	0.0066	0.00279553	0.0060	0.0015	0.0039	0	0.0017	0.0089	0.0068	0.0031	0.0059184	915	154602	rs140499406	0.0083	0.0083	0.0084	0.0082	0.0108	0.0082	0.0081	0.0095	0.0095	0.0014	0.0045	0.0083	5.038e-05	0.0022	0.0108	0.0097	0.0073	0.0026	0.0054	0.0054	0.0057	0.0051	0.0086	0.0051	0.0050	0.0080	0.0078	0.0021	0	0.0048	0.0078	0	0.0012	0.0170	0.0086	0.0099	0.0023	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.103134	0.19762	N	0.482470	0.643972	0.30591	N	0.29	0.10111	N	3.39	0.05710	T	0.65	0.02332	N	0.047	0.01911	-0.9816	0.34632	T	0.035	0.15204	T	10	0.0054219663	0.00119	T	.	.	.	0.076	0.22200	0.281	0.23642	0.0884992946249	0.08302	0.2916026049619296	0.29073	0.0782960899249	0.08811	0.440404832363	0.30632	T	0.002746	0.02136	T	-0.578857	0.00196	T	-0.597015	0.13063	T	0.00715857606445842	0.00082	T	0.60444	0.22695	T	0.043076467	0.06649	0.045342695	0.06080	0.043076467	0.06649	0.045342695	0.06080	1.173	0.00112	T	.	.	0.277	0.51005	B	.	.	1.266304	0.16643	12.67	0.75895699557277529	0.11253	0.37147	0.25695	N	AEFDBCI	0.061532	0.11769	N	-0.27753970283797	0.30017	1.669909	-0.255308672046322	0.29589	1.658939	0.996029901456306	0.34476	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.8	-0.563	0.11188	3.697000	0.54497	2.493000	0.32993	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.456000	0.28029	0.34:0.0:0.66:0.0	7.794	0.28302	991	0.01385	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1719.98	33	chr18	76378909	.	A	G	1719.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.445;DP=816;ExcessHet=0.0000;FS=3.137;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=-5.170e-01;SOR=0.446	GT:AD:DP:GQ:PL	0/1:61,72:133:99:1734,0,1371	20	0	1	0
chr18	76379505	76379505	T	C	exonic	ZNF516	.	nonsynonymous SNV	ZNF516:NM_014643:exon4:c.A2609G:p.H870R,	.	.	429	1083	10	0	0	10	0.00459559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.501	P	0.116	B	0.307	N	1.000	N	.	.	2.88	T	-0.991	T	0.017	T	0.063	0.332	5.799	-6.71	-1.202	0.209	5.277	0.110	.	0.0002	0.00159744	0.0018	0	8.66e-05	0.0001	0.0002	0.0005	0.0045	0.0104	0.0014424	223	154602	rs199852420	0.0008	0.0008	0.0004	0.0011	0.0099	0.0007	0.0007	0.0094	0.0092	2.987e-05	8.944e-05	0.0019	0	0.0001	0.0028	0.0001	0.0010	0.0099	0.0005	0.0005	0.0003	0.0006	0.0087	0.0004	0.0003	0.0066	0.0059	4.81e-05	0	0.0001	0.0014	0.0002	0	0.0034	0.0002	0	0.0087	0.021	0.49117	D	0.066	0.44501	T	0.501	0.37169	P	0.116	0.31939	B	0.307171	0.03991	N	1.443980	0.999997	0.08975	N	.	.	.	2.88	0.10291	T	-3.67	0.70191	D	0.385	0.42639	-0.9908	0.32398	T	0.017	0.07045	T	9	0.0035223067	0.00063	T	.	.	.	0.110	0.31079	.	.	0.0666544352282	0.05500	0.35572139522722934	0.35486	0.0990334627695	0.11188	0.425795257092	0.28634	T	0.125729	0.45164	T	-0.667256	0.00057	T	-0.723425	0.04632	T	0.206838041543961	0.20787	T	0.547645	0.18800	T	0.07784912	0.17692	0.14265777	0.33931	0.07784912	0.17692	0.14265777	0.33930	-3.134	0.11691	T	.	.	0.099	0.16800	B	.	.	0.435718	0.08059	4.783	0.73566005858616723	0.10374	0.09579	0.15303	N	AEFBI	0.074286	0.14884	N	-0.841529417706358	0.12259	0.5964635	-1.00565262260002	0.09661	0.4819225	0.998043086296213	0.36353	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.16	-6.71	0.01597	0.085000	0.14759	-0.964000	0.06769	0.661000	0.55757	0.004000	0.16614	0.000000	0.08366	0.718000	0.34707	0.1157:0.0738:0.5109:0.2996	5.277	0.14967	991	0.01385	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1678.98	33	chr18	76379505	.	T	C	1678.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.248e+00;DP=878;ExcessHet=0.0000;FS=1.855;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.12;ReadPosRankSum=-4.730e-01;SOR=0.845	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr18	76379991	76379991	T	C	exonic	ZNF516	.	nonsynonymous SNV	ZNF516:NM_014643:exon4:c.A2123G:p.E708G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.007	B	0.007	B	0.011	N	0.810	N	.	.	2.84	T	-1.096	T	0.024	T	0.236	2.420	14.05	4.55	1.905	3.317	12.642	0.049	0.00203432340668	.	0.000199681	8.289e-06	0	0	0.0001	0	0	0	0	1.29e-05	2	154602	rs566448035	9.578e-06	9.577e-06	1.089e-05	8.252e-06	0.0003	5.56e-06	4.35e-06	0.0002	0.0001	0	0	0	0.0003	0	0	2.698e-06	0	0	6.564e-06	6.561e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.12	0.27904	T	0.318	0.19246	T	0.007	0.14184	B	0.007	0.12992	B	0.011068	0.29673	N	0.290655	0.809537	0.29018	N	.	.	.	2.84	0.10674	T	-2.96	0.61722	D	0.384	0.42541	-1.0961	0.04597	T	0.024	0.10239	T	9	0.067313135	0.09359	T	0.002034	0.03695	T	0.049	0.13647	0.147	0.05039	0.166414681773	0.16258	0.10839615013655496	0.10768	0.162778715944	0.18374	0.376499027014	0.21759	T	0.119669	0.44136	T	-0.464352	0.00923	T	-0.574784	0.15013	T	0.0955492530064821	0.11861	T	0.611839	0.23263	T	0.11456827	0.27046	0.09201079	0.21664	0.11456827	0.27045	0.09201079	0.21663	-2.651	0.06901	T	.	.	0.098	0.16275	B	.	.	1.680002	0.21411	15.19	0.98798905810826099	0.46413	0.93938	0.59628	D	AEFDBI	0.210246	0.33615	N	-0.382573381425501	0.26091	1.421243	-0.345524401217013	0.26648	1.473257	0.999980501609641	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.570548	0.19454	0	0.699875	0.68795	0	.	.	4.55	4.55	0.55429	2.688000	0.46651	0.942000	0.22859	0.665000	0.62972	0.920000	0.31959	0.159000	0.23246	0.003000	0.05239	0.0:0.0:0.0:1.0	12.642	0.56073	991	0.01385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2195.98	33	chr18	76379991	.	T	C	2195.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.940e-01;DP=852;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.64;ReadPosRankSum=-1.390e-01;SOR=0.720	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr18	76871805	76871805	G	A	exonic	ZNF236	.	nonsynonymous SNV	ZNF236:NM_001306089:exon5:c.G647A:p.R216Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	1.0	D	1.0	D	0.000	D	1.000	D	0.685	N	3.21	T	-1.067	T	0.044	T	0.859	5.729	36	5.41	2.697	9.195	19.558	0.343	0.0312930513363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.35349	T	0.13	0.40909	T	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.000000	0.999721	0.48557	D	1.375	0.34280	L	3.21	0.07125	T	-2.27	0.50666	N	0.658	0.74189	-1.0670	0.10085	T	0.044	0.18742	T	10	0.611385	0.67464	D	0.031293	0.53414	D	0.343	0.66488	0.326	0.30873	0.617700868142	0.61461	0.7051329713185432	0.70455	1.75645652472	0.91059	0.865527391434	0.91923	D	0.021122	0.21970	T	0.130581	0.67417	D	-0.0502054	0.67008	D	0.995959937572479	0.88384	D	0.573543	0.20534	T	0.24691851	0.47665	0.23958246	0.49311	0.24691851	0.47665	0.23958246	0.49310	-12.355	0.86537	D	.	.	0.996	0.95886	P	.;.;.	.;.;.	5.281287	0.88677	29.7	0.9995409775739692	0.99963	0.99164	0.92173	D	AEFGBI	0.701504	0.65818	D	0.593173592780897	0.72749	5.854757	0.615261586583719	0.76047	6.419701	0.99999999999901	0.74766	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.41	5.41	0.78313	9.303000	0.95269	11.560000	0.93225	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	19.558	0.95353	844	0.36711	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1728.98	33	chr18	76871805	.	G	A	1728.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.706e+00;DP=860;ExcessHet=0.0000;FS=1.927;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.23;ReadPosRankSum=-3.410e-01;SOR=0.535	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1270	20	0	1	0
chr18	76927353	76927353	T	C	exonic	ZNF236	.	nonsynonymous SNV	ZNF236:NM_001306089:exon24:c.T4250C:p.L1417P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.0	B	0.001	B	0.242	N	1.000	N	0.805	L	2.84	T	-0.955	T	0.026	T	0.136	2.043	12.79	-4.16	-1.043	0.603	9.434	0.047	0.0398389361887	.	.	4.978e-05	0	0	0	0	0	0.0022	0.0002	3.88e-05	6	154602	rs765826272	2.668e-05	2.668e-05	1.225e-05	4.125e-05	0.0003	1.997e-05	1.754e-05	0.0002	0.0002	0	0	0	0	0	0	9.892e-06	1.656e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.053	0.48080	T	0.0	0.02946	B	0.001	0.04355	B	0.241878	0.03588	N	1.604580	0.999999	0.08975	N	1.935	0.51832	L	2.71	0.12473	T	-1.38	0.34198	N	0.135	0.15046	-0.9551	0.40078	T	0.026	0.11176	T	10	0.053134203	0.05457	T	0.039839	0.59037	D	0.047	0.12962	0.252	0.19067	0.0675242888579	0.06100	0.621800572120381	0.62113	1.00697876116	0.74614	0.347870826721	0.17608	T	0.03116	0.21915	T	-0.521263	0.00433	T	-0.670379	0.07584	T	0.255819737911224	0.23131	T	0.79622	0.43953	T	0.108059354	0.25552	0.076779805	0.17040	0.108059354	0.25551	0.076779805	0.17040	-4.477	0.30586	T	.	.	0.086	0.10449	B	.;.	.;.	0.693653	0.10624	7.325	0.84315479882013278	0.15220	0.14156	0.18253	N	AEFGBI	0.110257	0.21870	N	-1.28094859542144	0.03904	0.1752944	-1.33726479227491	0.03958	0.1857217	0.981310279120585	0.30246	0.732398	0.92422	0	0.615513	0.52658	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.81	-4.16	0.03606	0.615000	0.24023	-1.057000	0.06464	-0.278000	0.06506	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5004:0.123:0.3765	9.434	0.37794	877	0.30165	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2027.98	36	chr18	76927353	.	T	C	2027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.985e+00;DP=886;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.25;ReadPosRankSum=-9.270e-01;SOR=0.646	GT:AD:DP:GQ:PL	0/1:66,87:153:99:2042,0,1666	20	0	1	0
chr18	77105249	77105249	C	T	exonic	MBP	.	nonsynonymous SNV	MBP:NM_001025100:exon2:c.G13A:p.A5T	.	.	433	1082	7	0	0	7	0.00322432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.203	B	0.016	B	0.458	N	0.629	N	0	N	.	.	-1.036	T	0.042	T	0.187	0.635	7.415	1.35	0.354	0.430	3.728	0.035	0.0015196127001	.	0.000199681	0.0008	9.614e-05	0	0	0	0.0009	0	0.0024	0.0007438	115	154602	rs149191307	0.0006	0.0006	0.0005	0.0006	0.0019	0.0005	0.0005	0.0017	0.0016	8.971e-05	8.956e-05	0	0	5.638e-05	0.0003	0.0005	0.0004	0.0019	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0005	0.0004	7.221e-05	0	0.0001	0	0.0002	0	0	0.0003	0	0.0012	0.171	0.22746	T	0.179	0.29540	T	0.203	0.29776	B	0.012	0.17743	B	0.458282	0.04854	N	1.499710	1	0.08975	N	0.345	0.11182	N	.	.	.	-0.35	0.12847	N	0.306	0.34767	-1.0356	0.18668	T	0.042	0.17994	T	9	0.0050321817	0.00108	T	0.00152	0.02369	T	0.035	0.08770	.	.	0.204265027416	0.20035	0.1272157560023877	0.12647	0.186899771732	0.21002	.	.	.	0.032275	0.22413	T	-0.505157	0.00535	T	-0.505663	0.21761	T	0.00719752620464792	0.00082	T	0.844016	0.53499	T	0.0884449	0.20631	0.050981503	0.08114	0.0884449	0.20630	0.050981503	0.08113	-3.87	0.22453	T	.	.	0.074	0.06433	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.861995	0.12343	8.883	0.56215778387440862	0.05505	0.04198	0.09705	N	AEFDGBIJ	0.045753	0.07517	N	-0.984961672231293	0.08925	0.4203373	-1.00932970394406	0.09579	0.4773883	0.999989285242115	0.51787	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.550183	0.17644	0	.	.	3.26	1.35	0.21078	0.290000	0.18731	-1.970000	0.04414	0.599000	0.40250	0.026000	0.20160	0.000000	0.08366	0.089000	0.17737	0.253:0.6132:0.0:0.1338	3.728	0.08009	895	0.25842	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2176.11	33	chr18	77105249	.	C	T	2176.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.299;DP=889;ExcessHet=0.1072;FS=0.473;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.99;ReadPosRankSum=-4.150e-01;SOR=0.648	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1088	19	0	2	0
chr18	78993030	78993030	G	A	exonic	SALL3	.	nonsynonymous SNV	SALL3:NM_171999:exon2:c.G1039A:p.A347T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.006	B	0.006	B	0.001	N	1.000	N	0.625	N	2.97	T	-1.020	T	0.022	T	0.093	1.430	10.72	4.37	2.269	4.720	17.122	0.079	0.00802967873222	.	.	0.0008	0	0.0040	0.0032	0	0.0002	0	0	0.0001552	24	154602	rs778150835	5.939e-05	6.567e-05	5.47e-05	6.415e-05	0.0007	4.902e-05	4.512e-05	0.0005	0.0004	0	0.0007	0	0.0003	0	0	3.376e-05	8.531e-05	2.465e-05	7.262e-05	7.224e-05	6.451e-05	8.111e-05	0.0006	3.989e-05	3.141e-05	0.0003	0.0002	0	0	0.0006	0	0	0	0	1.473e-05	0.0005	0	0.216	0.19225	T	0.574	0.09022	T	0.006	0.13644	B	0.006	0.12133	B	0.001124	0.40136	N	0.106321	0.999883	0.19853	N	0.735	0.18861	N	3.23	0.09450	T	-0.9	0.24244	N	0.045	0.03726	-1.0198	0.23780	T	0.022	0.09330	T	10	0.01181832	0.00257	T	0.00803	0.21290	T	0.079	0.23065	0.36	0.36385	0.440498838766	0.43668	0.37147018434705453	0.37061	0.381747276443	0.39521	0.592620611191	0.51864	T	0.074574	0.34970	T	-0.542234	0.00325	T	-0.66028	0.08247	T	0.0443263261946486	0.04479	T	0.772623	0.40598	T	0.042554267	0.06474	0.06754759	0.13987	0.042554267	0.06473	0.06754759	0.13987	-4.742	0.34997	T	.	.	0.092	0.13876	B	.;.;.	.;.;.	2.345234	0.30063	18.32	0.83751553244928523	0.14899	0.75617	0.37033	D	AEFBCI	0.242800	0.36419	N	-0.353904807594003	0.27128	1.485971	-0.222976713367989	0.30714	1.731759	0.999186508673965	0.38681	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.37	4.37	0.51830	5.041000	0.63995	6.377000	0.55534	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:0.0:1.0:0.0	17.122	0.86581	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	751.98	33	chr18	78993030	.	G	A	751.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.080e-01;DP=764;ExcessHet=0.0000;FS=2.562;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.97;ReadPosRankSum=-2.300e-02;SOR=0.370	GT:AD:DP:GQ:PL	0/1:28,30:58:99:766,0,756	20	0	1	0
chr18	78993756	78993756	G	A	exonic	SALL3	.	nonsynonymous SNV	SALL3:NM_171999:exon2:c.G1765A:p.G589S,	.	.	424	1091	7	0	0	7	0.00319781	.	.	2289656	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.86	T	0.031	B	0.005	B	0.534	N	1.000	N	0.42	N	3.13	T	-0.918	T	0.010	T	0.036	0.043	4.236	-5.06	-1.018	0.185	9.551	0.041	0.00406883928449	0.0003	.	0.0004	0.0003	0.0003	0	0	0.0004	0.0028	0.0006	0.0002781	43	154602	rs201685558	0.0003	0.0004	0.0003	0.0004	0.0101	0.0003	0.0003	0.0080	0.0073	0.0002	0.0003	0.0061	0	2.821e-05	0.0101	0.0002	0.0006	0.0003	0.0003	0.0003	0.0004	0.0003	0.0004	0.0003	0.0002	0.0003	0.0002	4.813e-05	0	0	0.0055	0	0	0.0069	0.0004	0.0009	0	0.214	0.19361	T	0.245	0.24054	T	0.031	0.20130	B	0.005	0.11217	B	0.533783	0.11610	N	0.763765	0.999999	0.08975	N	-1.2	0.00838	N	3.41	0.08014	T	-0.87	0.23590	N	0.103	0.08646	-0.9183	0.45783	T	0.010	0.03811	T	10	0.0055042505	0.00121	T	0.004069	0.09712	T	0.041	0.10877	.	.	0.159798565429	0.15598	0.2314740132454767	0.23062	0.396343119788	0.40747	0.301038324833	0.10556	T	0.009611	0.31775	T	-0.626802	0.00100	T	-0.820061	0.01451	T	0.00850617734607194	0.00103	T	0.534247	0.18433	T	0.03047809	0.02717	0.03903203	0.03904	0.03047809	0.02717	0.03903203	0.03904	-3.553	0.17281	T	.	.	0.069	0.03811	B	.;.;.;.	.;.;.;.	-0.939943	0.00860	0.030	0.7060978654425375	0.09352	0.07657	0.13664	N	AEFDBCI	0.099006	0.19938	N	-1.36177989733513	0.03004	0.1335407	-1.41320992036218	0.03119	0.1448856	0.997570755561613	0.35775	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.2	-5.06	0.02725	0.355000	0.19902	-5.307000	0.01768	-0.693000	0.04107	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.6146:0.0975:0.2878:0.0	9.551	0.38473	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3025.11	87	chr18	78993756	.	G	A	3025.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.84;DP=2189;ExcessHet=0.1072;FS=4.891;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=-6.140e-01;SOR=0.886	GT:AD:DP:GQ:PL	0/0:120,0:120:99:0,120,1800	19	0	2	0
chr18	78994584	78994584	G	A	exonic	SALL3	.	nonsynonymous SNV	SALL3:NM_171999:exon2:c.G2593A:p.V865M,	.	.	418	1083	21	0	0	21	0.00960219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.102	B	0.016	B	0.392	N	1.000	N	0	N	2.92	T	-0.994	T	0.008	T	0.025	-0.533	1.574	-5.98	-1.248	-0.255	8.865	0.040	.	0.0057	0.00499201	0.0063	0.0017	0.0032	0.0001	0.0026	0.0078	0.0024	0.0102	0.0060478	935	154602	rs139777889	0.0077	0.0077	0.0076	0.0077	0.0132	0.0075	0.0075	0.0108	0.0099	0.0011	0.0035	0.0013	2.521e-05	0.0024	0.0132	0.0085	0.0080	0.0091	0.0055	0.0055	0.0055	0.0054	0.0098	0.0051	0.0050	0.0078	0.0076	0.0017	0	0.0064	0.0012	0.0002	0.0027	0	0.0084	0.0048	0.0098	0.084	0.32929	T	0.311	0.24193	T	0.089	0.25085	B	0.007	0.12992	B	0.392044	0.13242	N	0.640689	1	0.08975	N	-0.2	0.04182	N	3.2	0.09915	T	-0.98	0.25986	N	0.071	0.04426	-0.9937	0.31643	T	0.008	0.02926	T	10	0.0037801266	0.00070	T	.	.	.	0.040	0.10527	.	.	0.197625483188	0.19356	0.1434755882111462	0.14270	0.402279318707	0.41185	0.217062205076	0.01147	T	0.013241	0.32070	T	-0.74162	0.00020	T	-0.830243	0.01258	T	0.00211964490454904	0.00022	T	0.756924	0.41972	T	0.03708445	0.04688	0.041662402	0.04785	0.03708445	0.04688	0.041662402	0.04785	-3.798	0.22693	T	.	.	0.086	0.10739	B	.;.;.;.	.;.;.;.	0.712529	0.10815	7.496	0.7338969917002045	0.10310	0.06484	0.12493	N	AEFDBI	0.090973	0.18432	N	-1.39379364265766	0.02696	0.119399	-1.44644555773359	0.02802	0.1295701	0.999381314741562	0.39415	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.49	-5.98	0.02034	-0.235000	0.09031	-0.714000	0.07736	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.039000	0.14166	0.5063:0.2986:0.1951:0.0	8.865	0.34439	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1036.98	62	chr18	78994584	.	G	A	1036.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.653;DP=944;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=0.437;SOR=0.741	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1130	20	0	1	0
chr18	79096627	79096627	G	C	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon2:c.G271C:p.G91R	.	.	436	1075	11	0	0	11	0.00509024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.044	B	0.055	B	0.000	D	1.000	D	0.97	L	0.2	T	-1.028	T	0.075	T	0.834	1.645	11.46	4.13	1.212	7.133	15.574	0.251	.	0.0053	0.00279553	0.0036	0.0005	0.0045	0.0001	0.0010	0.0053	0.0024	0.0013	0.003564	551	154602	rs144519079	0.0046	0.0046	0.0048	0.0045	0.0054	0.0045	0.0045	0.0052	0.0051	0.0006	0.0054	0.0067	0	0.0008	0.0052	0.0053	0.0049	0.0010	0.0037	0.0037	0.0038	0.0036	0.0087	0.0035	0.0034	0.0075	0.0070	0.0009	0	0.0087	0.0040	0.0002	0.0012	0.0068	0.0051	0.0066	0.0008	0.105	0.39334	T	0.567	0.15355	T	0.021	0.21686	B	0.01	0.25995	B	0.000145	0.49130	D	0.133676	0.999929	0.51308	D	0.455	0.12820	N	0.2	0.60111	T	-0.72	0.33598	N	0.611	0.66700	-1.0282	0.21038	T	0.075	0.30272	T	10	0.008199632	0.00186	T	.	.	.	0.251	0.56024	.	.	0.681388529596	0.67867	0.7343745236082765	0.73382	0.278618513711	0.30347	0.529201447964	0.42922	T	0.05476	0.41339	T	-0.147162	0.28757	T	0.0237968	0.71876	D	0.0278091546740154	0.01661	T	0.948405	0.80130	D	0.13663392	0.31667	0.10433816	0.25056	0.13663392	0.31666	0.10433816	0.25055	-2.491	0.05720	T	.	.	0.231	0.52639	B	.;.;.;.	.;.;.;.	3.766465	0.54074	23.4	0.99053735340692595	0.51321	0.97268	0.73690	D	AEFGBI	0.718729	0.66984	D	-0.402754952391943	0.25372	1.376839	-0.304849600468498	0.27942	1.554153	0.997609323701015	0.35808	0.643511	0.44296	0	0.653731	0.59785	0	0.688494	0.62686	0	0.655142	0.61905	0	.	.	5.03	4.13	0.47661	7.209000	0.77424	9.606000	0.81076	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.754000	0.35928	0.0:0.1384:0.8616:0.0	15.574	0.76101	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	878.98	33	chr18	79096627	.	G	C	878.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.700e-02;DP=791;ExcessHet=0.0000;FS=0.814;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.99;ReadPosRankSum=-1.929e+00;SOR=0.840	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1269	20	0	1	0
chr18	79373903	79373903	A	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.A3076G:p.I1026V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.003	B	0.000	N	1.000	D	-0.06	N	-0.34	T	-1.000	T	0.106	T	0.201	-0.358	2.310	3.71	0.793	5.868	10.024	0.086	0.0104317513341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0012	0.0004	0.0004	0.0005	0.0004	0.0004	0.0004	0.0004	0.0003	0	0.0001	2.767e-05	4.173e-05	0.0005	0.0005	0.0003	0.0001	0	6.588e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.08700	B	0.000007	0.62929	N	0.106321	0.999956	0.52396	D	.	.	.	-0.34	0.68474	T	0.49	0.02993	N	0.356	0.39760	-1.0003	0.29831	T	0.106	0.38685	T	10	0.17882419	0.32987	T	0.010432	0.26958	T	0.125	0.34456	0.516	0.61611	0.557831953242	0.55443	0.32797818657124184	0.32710	0.19016546305	0.21331	0.641342043877	0.58755	T	0.051017	0.28760	T	-0.0924065	0.37678	T	-0.370512	0.36829	T	0.962732970714569	0.66454	D	0.929107	0.73907	D	0.025876695	0.01576	0.035724007	0.02878	0.025876695	0.01576	0.035724007	0.02878	-4.704	0.33453	T	.	.	0.076	0.05756	B	.;.	.;.	1.506156	0.19358	14.22	0.4022302230854744	0.02825	0.97863	0.77695	D	AEFBI	0.690181	0.65060	D	-0.529217151314464	0.21140	1.119708	-0.32364514690563	0.27337	1.516199	0.922846515319302	0.26722	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.71	0.41733	5.906000	0.69639	0.174000	0.15553	0.756000	0.94297	1.000000	0.71638	0.001000	0.17328	0.726000	0.34967	0.9163:0.0:0.0837:0.0	10.024	0.41234	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2308	1270.66	37	chr18	79373903	.	A	G	1270.66	.	AC=6;AF=0.231;AN=26;BaseQRankSum=-1.120e+00;DP=912;ExcessHet=2.0135;FS=176.158;InbreedingCoeff=-0.3148;MLEAC=8;MLEAF=0.308;MQ=60.00;MQRankSum=0.00;QD=5.08;ReadPosRankSum=0.253;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,15:46:99:0|1:79373902_C_T:396,0,1089:79373902	7	0	6	8
chr18	79373905	79373905	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3078G:p.I1026M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.354	B	0.097	B	0.000	D	1.000	D	2.775	M	-0.78	T	-0.794	T	0.230	T	0.523	1.377	10.53	-2.28	-0.455	-0.373	8.239	0.085	0.0345994434534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0038	0.0009	0.0008	0.0010	0.0008	0.0008	0.0010	0.0009	0.0006	2.243e-05	0.0002	0.0001	1.877e-05	0.0007	0.0010	0.0008	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.26409	T	0.131	0.34959	T	0.354	0.33710	B	0.045	0.30390	B	0.000007	0.62929	D	0.106321	1	0.81001	D	.	.	.	-0.78	0.73631	T	-1.25	0.31576	N	0.772	0.80473	-0.7945	0.55467	T	0.230	0.59608	T	10	0.6346408	0.68711	D	0.034599	0.55783	D	0.342	0.66392	0.54	0.65161	0.652458548239	0.64956	0.694288075113171	0.69369	0.260033580267	0.28572	0.683687150478	0.64798	T	0.10075	0.40685	T	-0.0241352	0.48263	T	-0.272445	0.47572	T	0.36296334862709	0.27525	T	0.933407	0.75038	D	0.09914479	0.23395	0.10145065	0.24287	0.09914479	0.23395	0.10145065	0.24286	-6.858	0.52989	T	.	.	0.133	0.28835	B	.;.	.;.	1.363101	0.17722	13.33	0.95841953356481135	0.27968	0.40437	0.26436	N	AEFBI	0.191278	0.31848	N	-0.675120176808742	0.16732	0.8550748	-0.728338547967329	0.16257	0.8591364	0.00264162814707333	0.09600	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	-2.28	0.06438	-0.715000	0.05099	-0.654000	0.08013	-0.182000	0.10109	0.002000	0.15269	0.008000	0.19753	0.773000	0.36634	0.0995:0.4512:0.0:0.4493	8.239	0.30810	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	2387.64	32	chr18	79373905	.	C	G	2387.64	.	AC=10;AF=0.500;AN=20;BaseQRankSum=2.00;DP=837;ExcessHet=9.8992;FS=418.465;InbreedingCoeff=-0.4008;MLEAC=16;MLEAF=0.800;MQ=60.00;MQRankSum=0.00;QD=6.15;ReadPosRankSum=1.06;SOR=9.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,15:46:99:0|1:79373902_C_T:396,0,1089:79373902	0	0	10	11
chr18	79373906	79373906	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3079G:p.L1027V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.019	B	0.031	B	0.000	D	1.000	D	0.325	N	-1.0	T	-0.993	T	0.086	T	0.404	1.590	11.27	3.95	2.415	0.944	7.951	0.179	0.0300084248149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	1.363e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.066	0.44501	T	0.011	0.17989	B	0.014	0.21939	B	0.000044	0.53742	D	0.072519	1	0.81001	D	.	.	.	-1.0	0.76037	T	0.63	0.02404	N	0.643	0.67132	-0.9931	0.31801	T	0.086	0.33578	T	10	0.3595691	0.52622	T	0.030008	0.52407	D	0.228	0.52768	0.556	0.67409	0.716971919736	0.71448	0.6714160944778895	0.67079	0.231826800128	0.25737	0.712757587433	0.68993	T	0.06665	0.32998	T	-0.00324871	0.51206	T	-0.242443	0.50560	T	0.988950908184052	0.79227	D	0.769823	0.39947	T	0.086578995	0.20131	0.08379029	0.19227	0.086578995	0.20130	0.08379029	0.19227	-9.254	0.75058	D	.	.	0.157	0.34775	B	.;.	.;.	2.695608	0.35200	19.83	0.99167772354724137	0.54298	0.79215	0.39211	D	AEFBI	0.229011	0.35260	N	-0.22633195655759	0.32055	1.803854	-0.118404370068464	0.34647	1.995432	0.0147255712762604	0.12630	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.95	0.44952	0.466000	0.21731	3.026000	0.36022	0.599000	0.40250	0.056000	0.21631	0.996000	0.32793	0.811000	0.38219	0.1604:0.7591:0.0:0.0805	7.951	0.29178	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	2047.46	32	chr18	79373906	.	C	G,T	2047.46	.	AC=7,1;AF=0.292,0.042;AN=24;BaseQRankSum=-8.380e-01;DP=858;ExcessHet=5.5058;FS=304.536;InbreedingCoeff=-0.1933;MLEAC=11,2;MLEAF=0.458,0.083;MQ=60.00;MQRankSum=0.00;QD=6.54;ReadPosRankSum=1.07;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,15,0:46:99:0|1:79373902_C_T:396,0,1089,489,1134,1623:79373902	4	0	7	9
chr18	79373906	79373906	C	T	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3079T:p.L1027F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.682	P	0.361	B	0.000	D	1.000	D	0.83	L	-1.06	T	-0.935	T	0.119	T	0.428	2.268	13.54	3.95	2.415	0.944	7.951	0.093	0.0284690929236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	0	1.376e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.554	0.41464	P	0.197	0.43233	B	0.000044	0.53742	D	0.072519	0.999999	0.58761	D	.	.	.	-1.06	0.76819	T	-2.04	0.46842	N	0.573	0.62950	-0.9349	0.43409	T	0.119	0.41648	T	10	0.361637	0.52779	T	0.028469	0.51139	D	0.365	0.68495	0.508	0.60386	0.815369968599	0.81363	0.8176144227679487	0.81718	0.338732872668	0.35836	0.746733427048	0.73965	T	0.144628	0.48135	T	0.0232865	0.54826	T	-0.204327	0.54237	T	0.985363662242889	0.76380	D	0.961204	0.85427	D	0.28799716	0.51806	0.31295186	0.57294	0.28799716	0.51806	0.31295186	0.57294	-11.447	0.83762	D	.	.	0.676	0.71986	P	.;.	.;.	3.098208	0.41745	21.4	0.99739806707809964	0.83409	0.69529	0.34224	D	AEFBI	0.189841	0.31708	N	-0.293001453477025	0.29417	1.631174	-0.168557634840095	0.32700	1.863048	0.0147255712762604	0.12630	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.95	0.44952	0.466000	0.21731	3.026000	0.36022	0.599000	0.40250	0.056000	0.21631	0.996000	0.32793	0.811000	0.38219	0.1604:0.7591:0.0:0.0805	7.951	0.29178	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	2047.46	32	chr18	79373906	.	C	G,T	2047.46	.	AC=7,1;AF=0.292,0.042;AN=24;BaseQRankSum=-8.380e-01;DP=858;ExcessHet=5.5058;FS=304.536;InbreedingCoeff=-0.1933;MLEAC=11,2;MLEAF=0.458,0.083;MQ=60.00;MQRankSum=0.00;QD=6.54;ReadPosRankSum=1.07;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,15,0:46:99:0|1:79373902_C_T:396,0,1089,489,1134,1623:79373902	4	0	7	9
chr18	79411164	79411164	G	A	exonic	NFATC1	.	nonsynonymous SNV	NFATC1:NM_001278669:exon2:c.G889A:p.D297N	.	.	423	1092	7	0	0	7	0.00319489	.	.	727817	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.995	D	0.747	P	0.001	D	1.000	D	2.095	M	-1.21	T	-0.109	T	0.366	T	0.15	5.148	32	4.96	2.578	9.261	18.396	0.369	.	0.0006	0.00259585	0.0009	0.0001	0.0008	0.0049	0	0.0007	0.0024	0.0004	0.0008021	124	154602	rs76525142	0.0010	0.0010	0.0010	0.0010	0.0184	0.0010	0.0009	0.0173	0.0168	0.0001	0.0009	0.0004	0.0184	3.864e-05	0.0064	0.0005	0.0011	0.0004	0.0007	0.0007	0.0008	0.0006	0.0083	0.0006	0.0005	0.0064	0.0057	9.621e-05	0	0.0003	0.0006	0.0083	0	0	0.0006	0.0005	0.0012	0.05	0.41637	D	0.085	0.69154	T	0.985	0.61118	D	0.647	0.52336	P	0.000635	0.42799	D	0.262361	0.999981	0.81001	D	2.6	0.76081	M	-1.21	0.78645	T	-2.45	0.56630	N	0.405	0.46835	-0.1092	0.79886	T	0.366	0.72620	T	10	0.010182321	0.00228	T	.	.	.	0.369	0.68844	.	.	0.781335839245	0.77931	0.3314206422243107	0.33055	0.690193461659	0.60522	0.597861468792	0.52602	T	0.113465	0.85550	T	-0.321469	0.06779	T	-0.234552	0.51328	T	0.0697725894504532	0.08619	T	0.962304	0.88413	D	0.11334826	0.26770	0.12698059	0.30574	0.11334826	0.26770	0.12698059	0.30573	-13.719	0.92744	D	.	.	0.164	0.42022	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.122557	0.85684	28.7	0.99859950430616551	0.93820	0.99463	0.96341	D	AEFDBI	0.869276	0.78973	D	0.590775566515301	0.72599	5.831061	0.539892484194243	0.70698	5.543439	0.99999999999988	0.74766	0.700653	0.57754	0	0.702456	0.74545	0	0.717052	0.78885	0	0.635551	0.53088	0	.	.	4.96	4.96	0.65153	9.605000	0.97771	11.698000	0.94457	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:1.0:0.0	18.396	0.90443	.	.	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1889.98	64	chr18	79411164	.	G	A	1889.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.269;DP=1496;ExcessHet=0.0000;FS=0.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.45;ReadPosRankSum=-1.179e+00;SOR=0.627	GT:AD:DP:GQ:PL	0/1:85,80:165:99:1904,0,2047	20	0	1	0
chr18	79717562	79717562	A	C	exonic	CTDP1	.	nonsynonymous SNV	CTDP1:NM_001202504:exon9:c.A1739C:p.E580A	Congenital cataracts, facial dysmorphism, and neuropathy, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.029	B	0.025	B	0.001	N	0.541	D	1.04	L	-1.72	D	-0.736	T	0.314	T	0.227	0.396	6.151	-0.292	-0.292	3.030	6.610	0.151	0.0743429357747	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1378586510	6.843e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	0.40573	T	0.271	0.22291	T	0.003	0.19866	B	0.025	0.20508	B	0.000792	0.41772	N	0.270709	0.540669	0.32051	D	0.53	0.13656	N	-1.72	0.83241	D	-2.57	0.62008	D	0.275	0.31590	-0.7357	0.58673	T	0.314	0.68389	T	10	0.15624717	0.29431	T	0.074343	0.72017	D	0.151	0.39764	0.331	0.31681	0.442295363799	0.43851	0.5940864892022834	0.59338	0.146246402447	0.16512	0.527313768864	0.42656	T	0.157366	0.49994	T	-0.0433272	0.45452	T	-0.300013	0.44723	T	0.115439814180425	0.13979	T	0.761624	0.40374	T	0.069762595	0.15311	0.052957613	0.08829	0.069762595	0.15310	0.052957613	0.08828	-8.064	0.61506	D	.	.	0.083	0.09627	B	.;.;.;.	.;.;.;.	2.113709	0.26901	17.28	0.75374640684252403	0.11050	0.76734	0.37658	D	AEFDBCI	0.208664	0.33472	N	-0.983673549242405	0.08952	0.4217451	-0.931171918545028	0.11361	0.5782711	0.895972737172275	0.25967	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.09	-0.292	0.12204	3.209000	0.50824	6.246000	0.55309	-0.776000	0.03386	1.000000	0.71638	1.000000	0.68203	0.214000	0.22296	0.4908:0.3728:0.1364:0.0	6.610	0.21940	.	.	BRCT domain|BRCT domain|BRCT domain;.;BRCT domain|BRCT domain|BRCT domain;BRCT domain|BRCT domain|BRCT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	609.98	33	chr18	79717562	.	A	C	609.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.477;DP=735;ExcessHet=0.0000;FS=3.062;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.86;ReadPosRankSum=0.423;SOR=1.353	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1299	20	0	1	0
chr18	80045896	80045896	G	T	exonic	RBFA	.	nonsynonymous SNV	RBFA:NM_001171967:exon6:c.G688T:p.G230C	.	.	423	1091	8	0	0	8	0.00365297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.959	D	0.556	P	0.092	N	1.000	N	.	.	1.78	T	-1.089	T	0.039	T	0.416	2.575	14.57	3.89	2.361	1.060	8.042	0.118	0.0103879545022	0.0031	0.00139776	0.0022	0.0004	0.0017	0	0.0006	0.0034	0.0011	0.0004	0.0022186	343	154602	rs146546640	0.0025	0.0025	0.0026	0.0025	0.0077	0.0025	0.0024	0.0059	0.0052	0.0007	0.0025	0.0038	2.521e-05	0.0004	0.0077	0.0029	0.0033	0.0002	0.0023	0.0023	0.0025	0.0021	0.0040	0.0021	0.0020	0.0033	0.0031	0.0005	0	0.0040	0.0014	0	0.0008	0.0102	0.0037	0.0014	0.0002	0.003	0.68238	D	0.044	0.49663	D	0.959	0.55135	D	0.556	0.49411	P	0.091953	0.20299	N	0.477385	0.999999	0.08975	N	.	.	.	1.78	0.25678	T	-2.61	0.56144	D	0.315	0.35514	-1.0895	0.05616	T	0.039	0.16978	T	9	0.004610032	0.00096	T	0.010388	0.26871	T	0.118	0.32913	.	.	0.382761230579	0.37889	0.11111175681961595	0.11040	0.803011801004	0.66336	0.267464339733	0.05813	T	0.021326	0.16629	T	-0.435043	0.01383	T	-0.399159	0.33482	T	0.023375148767641	0.01068	T	0.521748	0.17009	T	0.18848088	0.40349	0.1354497	0.32429	0.18848088	0.40349	0.1354497	0.32428	-4.055	0.24624	T	.	.	0.117	0.23709	B	.	.	1.732306	0.22045	15.46	0.98658077252863763	0.44289	0.18637	0.20342	N	AEFDBCI	0.095111	0.19220	N	-0.151032493658111	0.35190	2.018202	-0.280986694605362	0.28725	1.603809	0.848811751896699	0.25005	0.67177	0.52595	0	0.702456	0.74545	0	0.554053	0.18673	1	0.635551	0.53088	0	.	.	4.78	3.89	0.44098	0.894000	0.27983	3.059000	0.36152	0.676000	0.76740	0.050000	0.21411	0.999000	0.35428	0.006000	0.07323	0.1755:0.0:0.8245:0.0	8.042	0.29686	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2478.98	44	chr18	80045896	.	G	T	2478.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.778e+00;DP=1190;ExcessHet=0.0000;FS=1.207;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.76;ReadPosRankSum=-1.220e+00;SOR=0.794	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,99,1485	20	0	1	0
chr18	80135669	80135669	A	G	exonic	ADNP2	.	nonsynonymous SNV	ADNP2:NM_014913:exon4:c.A256G:p.T86A,	.	.	428	1070	23	1	0	25	0.0115473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	B	0.006	B	0.001	N	0.999	N	0.69	N	-0.56	T	-1.045	T	0.111	T	0.109	1.833	12.09	0.754	0.196	1.412	5.379	0.042	.	0.0074	0.00419329	0.0080	0.0023	0.0016	0.0001	0.0015	0.0105	0.0033	0.0126	0.0081629	1262	154602	rs78503084	0.0099	0.0099	0.0099	0.0098	0.0121	0.0097	0.0097	0.0115	0.0113	0.0014	0.0022	0.0043	0.0001	0.0012	0.0061	0.0113	0.0074	0.0121	0.0060	0.0060	0.0064	0.0056	0.0100	0.0057	0.0055	0.0094	0.0092	0.0018	0	0.0046	0.0049	0.0002	0.0009	0.0204	0.0100	0.0043	0.0087	0.258	0.22312	T	0.281	0.21812	T	0.002	0.09854	B	0.006	0.12133	B	0.001441	0.39044	N	0.176600	0.998761	0.21926	N	1.95	0.52479	M	-0.56	0.71187	T	-0.86	0.30555	N	0.117	0.10626	-1.0448	0.15884	T	0.111	0.39841	T	9	0.0057888627	0.00129	T	.	.	.	0.042	0.11227	.	.	0.779458332734	0.77742	0.2235045365781122	0.22265	0.167435334845	0.18892	0.461018890142	0.33450	T	0.062028	0.31809	T	-0.497291	0.00592	T	-0.473475	0.25142	T	0.00325881748550906	0.00034	T	0.622038	0.23930	T	0.035229754	0.04107	0.03994675	0.04207	0.035229754	0.04107	0.03994675	0.04206	-4.872	0.35419	T	.	.	0.068	0.04396	B	.;.;.	.;.;.	0.943702	0.13196	9.696	0.9386628470318541	0.23874	0.71055	0.34850	D	AEFGBCI	0.069104	0.13663	N	-0.703779194922765	0.15915	0.8063367	-0.572165070206045	0.20220	1.088397	0.893579851091107	0.25909	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.17	0.754	0.17558	0.874000	0.27715	2.696000	0.34125	-0.089000	0.16174	0.003000	0.16062	0.947000	0.28924	0.812000	0.38265	0.5114:0.0:0.1409:0.3477	5.379	0.15483	.	.	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2702.11	34	chr18	80135669	.	A	G	2702.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.06;DP=917;ExcessHet=0.1072;FS=1.091;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=0.101;SOR=0.797	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1280	19	0	2	0
chr18	80136200	80136200	C	G	exonic	ADNP2	.	nonsynonymous SNV	ADNP2:NM_014913:exon4:c.C787G:p.Q263E,	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.943	P	0.496	P	0.002	N	0.611	N	0.975	L	.	.	-0.955	T	0.101	T	0.384	3.699	18.79	5.65	2.941	3.740	14.091	0.074	0.00275964958219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.03	0.54159	D	0.943	0.53072	P	0.496	0.47529	P	0.001976	0.37549	N	0.184247	0.611177	0.30859	N	2.595	0.75868	M	.	.	.	-1.44	0.35399	N	0.408	0.44857	-0.9550	0.40096	T	0.101	0.37493	T	8	0.33367395	0.50554	T	0.00276	0.05723	T	0.074	0.21613	0.384	0.40298	0.619093476189	0.61600	0.29770993480709657	0.29683	0.424136248686	0.42847	0.534070491791	0.43608	T	0.109008	0.42251	T	0.00998409	0.53021	T	-0.223435	0.52404	T	0.739263892173767	0.42698	D	0.854615	0.54143	D	0.20092201	0.42085	0.18550962	0.41667	0.20092201	0.42085	0.18550962	0.41666	-2.525	0.05954	T	.	.	0.154	0.34071	B	.	.	3.651291	0.51821	23.2	0.99439371358843642	0.64670	0.95209	0.63842	D	AEFGBCI	0.552209	0.56397	D	0.392131728686509	0.60996	4.294887	0.464526662489449	0.65654	4.851309	0.999997744303827	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	3.356000	0.51987	7.607000	0.61769	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.870000	0.41412	0.0:0.929:0.0:0.071	14.091	0.64516	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3005.98	103	chr18	80136200	.	C	G	3005.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.178e+00;DP=1508;ExcessHet=0.0000;FS=4.747;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.05;ReadPosRankSum=1.05;SOR=0.514	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1280	20	0	1	0
chr18	80138370	80138370	G	A	exonic	ADNP2	.	nonsynonymous SNV	ADNP2:NM_014913:exon4:c.G2957A:p.G986E,	.	.	435	1075	12	0	0	12	0.00555042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.961	D	0.75	P	0.000	D	1.000	N	1.61	L	.	.	-1.030	T	0.102	T	0.438	-0.776	0.743	3.82	1.183	3.555	8.098	0.124	.	0.0072	0.00299521	0.0071	0.0021	0.0013	0.0001	0.0015	0.0103	0.0011	0.0077	0.0073285	1133	154602	rs75868400	0.0094	0.0094	0.0096	0.0092	0.0111	0.0092	0.0092	0.0109	0.0109	0.0013	0.0019	0.0043	5.038e-05	0.0012	0.0038	0.0111	0.0069	0.0074	0.0057	0.0057	0.0062	0.0051	0.0097	0.0053	0.0052	0.0091	0.0089	0.0017	0	0.0042	0.0049	0	0.0009	0.0102	0.0097	0.0038	0.0054	0.452	0.08943	T	0.053	0.47336	T	0.961	0.55431	D	0.75	0.56031	P	0.000090	0.51296	D	0.000000	0.999999	0.08975	N	2.125	0.59049	M	.	.	.	-1.54	0.37375	N	0.199	0.21969	-1.0296	0.20583	T	0.102	0.37793	T	8	0.004585892	0.00095	T	.	.	.	0.124	0.34239	.	.	0.784103650021	0.78211	0.11264781931675674	0.11193	0.790937262654	0.65775	0.505969882011	0.39659	T	0.049565	0.28344	T	-0.392373	0.02597	T	-0.32342	0.42198	T	0.019233517373136	0.00629	T	0.681532	0.29028	T	0.061499324	0.12741	0.07782605	0.17375	0.061499324	0.12741	0.07782605	0.17375	-2.606	0.06549	T	.	.	0.113	0.22464	B	.	.	2.095400	0.26658	17.19	0.83447692219610303	0.14731	0.91738	0.54158	D	AEFDBCI	0.237945	0.36014	N	-0.0832294002044983	0.38127	2.22839	-0.187935779817644	0.31978	1.814909	0.998306039354046	0.36726	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.7	3.82	0.43153	1.110000	0.30761	4.319000	0.42992	-0.153000	0.12021	0.796000	0.29669	1.000000	0.68203	0.001000	0.02609	0.0:0.3022:0.5178:0.18	8.098	0.30001	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1280.98	39	chr18	80138370	.	G	A	1280.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.953;DP=950;ExcessHet=0.0000;FS=3.794;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=-1.202e+00;SOR=1.067	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,117,1270	20	0	1	0
chr19	110747	110747	-	T	exonic	OR4F17	.	frameshift insertion	OR4F17:NM_001005240:exon3:c.70dupT:p.V26Cfs*20,	.	.	454	1047	21	0	0	21	0.00992908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061	0.00479233	0.0060	0.0013	0.0060	0	0.0026	0.0078	0.0033	0.0065	0.0004786	74	154602	rs560302340	0.0052	0.0082	0.0053	0.0051	0.0057	0.0051	0.0050	0.0056	0.0055	0.0006	0.0046	0.0084	5.04e-05	0.0016	0.0046	0.0057	0.0047	0.0051	0.0040	0.0060	0.0043	0.0038	0.0067	0.0038	0.0037	0.0055	0.0052	0.0008	0.0011	0.0066	0.0099	0	0.0008	0.0069	0.0057	0.0067	0.0067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	875.94	34	chr19	110747	.	G	GT	875.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=989;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=34.72;MQRankSum=-1.391e+00;QD=3.34;ReadPosRankSum=1.83;SOR=0.688	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr19	287703	287703	G	A	exonic	PLPP2	.	nonsynonymous SNV	PLPP2:NM_003712:exon3:c.C253T:p.R85C	.	.	430	1079	13	0	0	13	0.00598802	.	.	3185283	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.899	P	0.003	N	1.000	D	2.175	M	1.41	T	-0.033	T	0.427	T	0.36	1.818	12.04	5.03	2.339	5.071	12.888	0.269	.	0.0053	0.00319489	0.0055	0.0012	0.0011	0	0.0083	0.0075	0.0100	0.0048	0.0052975	819	154602	rs61745392	0.0073	0.0073	0.0075	0.0072	0.0081	0.0072	0.0072	0.0080	0.0079	0.0012	0.0010	0.0110	2.519e-05	0.0090	0.0042	0.0081	0.0066	0.0050	0.0046	0.0046	0.0048	0.0043	0.0072	0.0043	0.0042	0.0067	0.0065	0.0011	0	0.0014	0.0081	0	0.0073	0	0.0072	0.0047	0.0050	0.01	0.56456	D	0.014	0.62352	D	1.0	0.90584	D	0.899	0.63802	P	0.002594	0.36278	N	0.301489	0.999784	0.50806	D	.	.	.	-0.96	0.75553	T	-4.29	0.76414	D	0.468	0.55886	-0.0327	0.81573	T	0.427	0.77048	T	10	0.009733021	0.00219	T	.	.	.	0.269	0.58381	.	.	0.883236127117	0.88209	0.8945985127888705	0.89430	1.14340301719	0.79003	0.414103150368	0.27024	T	0.397734	0.75602	T	-0.265803	0.12229	T	-0.150859	0.59167	T	0.0284881090014217	0.01760	T	0.759724	0.38410	T	0.26032472	0.49088	0.17647563	0.40184	0.26032472	0.49088	0.17647563	0.40183	-11.849	0.84108	D	.	.	0.107	0.38871	B	.;.;.;.;.	.;.;.;.;.	4.618677	0.73312	26.0	0.99827801071768196	0.91026	0.94292	0.60703	D	AEFDBI	0.755928	0.69535	D	0.560018066947519	0.70694	5.539335	0.501810052330444	0.68114	5.175376	0.971136005609381	0.29263	0.722319	0.85440	0	0.547309	0.14657	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	5.03	0.67015	5.126000	0.64561	7.216000	0.57834	0.662000	0.56354	1.000000	0.71638	0.999000	0.35428	0.655000	0.32830	0.0:0.0:0.8368:0.1632	12.888	0.57446	988	0.01987	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2390.11	35	chr19	287703	.	G	A	2390.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.75;DP=858;ExcessHet=0.1072;FS=1.945;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=1.31;SOR=0.536	GT:AD:DP:GQ:PL	0/1:48,46:94:99:1219,0,1226	19	0	2	0
chr19	374338	374338	A	C	exonic	THEG	.	nonsynonymous SNV	THEG:NM_016585:exon2:c.T392G:p.L131R	.	.	417	1087	17	1	0	19	0.00866393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.999	D	0.124	N	0.724	N	2.175	M	1.4	T	-0.667	T	0.244	T	0.88	1.194	9.851	2.78	1.520	2.083	7.387	0.296	0.0196772225736	7.7e-05	0.000798722	0.0007	0	0.0003	0	0	0.0003	0.0023	0.0033	0.0006274	97	154602	rs150403020	0.0004	0.0004	0.0003	0.0006	0.0042	0.0004	0.0004	0.0030	0.0029	2.987e-05	0.0004	0.0002	0	1.875e-05	0.0042	0.0002	0.0007	0.0033	0.0003	0.0003	0.0003	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	4.81e-05	0	0.0003	0	0.0002	0	0	0.0004	0.0009	0.0021	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.996	0.92359	D	0.124233	0.18888	N	0.394822	0.724	0.29896	N	1.1	0.28011	L	0.61	0.53516	T	-4.4	0.77308	D	0.733	0.82660	-0.6667	0.61977	T	0.244	0.61225	T	10	0.06504443	0.08717	T	0.019677	0.42104	T	0.296	0.61616	.	.	0.344017737713	0.34012	0.37290604879744027	0.37204	0.381255657936	0.39490	0.431989133358	0.29480	T	0.684028	0.90750	D	-0.121771	0.32834	T	0.048317	0.73472	D	0.120021722515531	0.14432	T	0.419058	0.27634	T	0.61270934	0.73373	0.59631556	0.76561	0.61270934	0.73374	0.59631556	0.76562	-12.409	0.86786	D	.	.	0.391	0.76335	A	.;.;.	.;.;.	3.950987	0.57877	23.9	0.99626322756997099	0.75776	0.51441	0.28896	D	AEFDBHCI	0.061734	0.11823	N	0.186044295172361	0.50529	3.242036	-0.00821311853346807	0.39343	2.331232	0.602422540010629	0.21737	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.78	2.78	0.31702	0.953000	0.28759	10.568000	0.83440	0.731000	0.85647	0.219000	0.24524	1.000000	0.68203	0.175000	0.21139	1.0:0.0:0.0:0.0	7.387	0.26064	994	0.00715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1336.98	35	chr19	374338	.	A	C	1336.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.772e+00;DP=824;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.86;ReadPosRankSum=0.469;SOR=0.787	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1183	20	0	1	0
chr19	434722	434722	G	A	exonic	SHC2	.	nonsynonymous SNV	SHC2:NM_012435:exon8:c.C1097T:p.T366M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.475	P	0.069	B	0.257	N	1.000	N	0.695	N	1.69	T	-0.992	T	0.043	T	0.139	-0.599	1.322	0.665	0.104	0.068	10.269	0.036	0.0922560984634	.	0.000199681	5.183e-05	0	0	0.0007	0	0	0	0	4.53e-05	7	154602	rs189392115	1.715e-05	2.052e-05	1.638e-05	1.792e-05	0.0004	1.177e-05	9.95e-06	0.0002	0.0002	0	6.748e-05	0	0.0004	0	0	3.6e-06	1.659e-05	2.326e-05	3.284e-05	3.281e-05	0	6.716e-05	0.0008	1.26e-05	7.98e-06	0.0003	0.0002	2.407e-05	0	0	0	0.0008	0	0	0	0	0	0.102	0.30235	T	0.118	0.36233	T	0.475	0.36638	P	0.069	0.27757	B	0.257002	0.03684	N	1.628900	1	0.08975	N	1.04	0.26193	L	1.69	0.27032	T	-1.26	0.31778	N	0.132	0.12770	-0.9924	0.31985	T	0.043	0.18535	T	10	0.03771755	0.02143	T	0.092256	0.75859	D	0.036	0.09122	0.272	0.22210	0.358744678677	0.35482	0.3046566367448712	0.30378	0.213371676131	0.23852	0.540926218033	0.44576	T	0.345847	0.71418	T	-0.552777	0.00281	T	-0.654748	0.08625	T	0.0369159452645519	0.03140	T	0.309269	0.05988	T	0.014458516	0.00094	0.033749487	0.02321	0.014458516	0.00094	0.033749487	0.02321	-5.012	0.36970	T	.	.	0.078	0.06663	B	.	.	1.919070	0.24375	16.37	0.95009460544217705	0.25979	0.03562	0.08769	N	AEFDBI	0.120114	0.23414	N	-1.01120951189196	0.08370	0.3922318	-1.10351492682537	0.07633	0.3720389	1.25858193895616E-5	0.02871	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.755437	0.99637	0	.	.	3.06	0.665	0.17066	-0.189000	0.09625	0.898000	0.22526	-1.077000	0.01579	0.000000	0.06391	0.002000	0.18203	0.005000	0.06747	0.0:0.7188:0.2812:0.0	10.269	0.42654	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1424.98	33	chr19	434722	.	G	A	1424.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.162;DP=790;ExcessHet=0.0000;FS=0.855;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.38;ReadPosRankSum=1.32;SOR=0.576	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1280	20	0	1	0
chr19	501742	501742	-	CC	exonic	MADCAM1	.	frameshift insertion	MADCAM1:NM_130760:exon4:c.741_742insCC:p.S248Pfs*59,	.	.	618	902	2	0	0	2	0.00110742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.949e-05	0.0002	9.168e-05	0.0002	0	8.175e-05	0	0	6.47e-05	10	154602	rs753094852	0.0041	0.0060	0.0035	0.0048	0.0164	0.0040	0.0040	0.0157	0.0154	0.0020	0.0061	0.0040	0.0116	0.0038	0.0014	0.0030	0.0050	0.0164	0.0052	0.0086	0.0053	0.0052	0.0168	0.0049	0.0048	0.0139	0.0129	0.0037	0.0034	0.0049	0.0044	0.0168	0.0050	0.0141	0.0053	0.0059	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	788.94	76	chr19	501742	.	G	GCC	788.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=1349;ExcessHet=0.0000;FS=2.323;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.43;MQRankSum=0.135;QD=14.89;ReadPosRankSum=-1.047e+00;SOR=0.666	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	20	0	1	0
chr19	501743	501743	-	CCCGACACCACCTCCCAGGAGC	exonic	MADCAM1	.	frameshift insertion	MADCAM1:NM_130760:exon4:c.742_743insCCCGACACCACCTCCCAGGAGC:p.P249Rfs*53,	.	.	978	231	47	127	139	440	0.394495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0007	0.0002	0.0008	0	0.0002	0	0	6.5e-06	1	154602	.	0.0056	0.0059	0.0048	0.0063	0.0110	0.0054	0.0054	0.0102	0.0099	0.0025	0.0092	0.0049	0.0104	0.0032	0.0024	0.0048	0.0059	0.0110	0.0062	0.0070	0.0061	0.0063	0.0266	0.0057	0.0055	0.0217	0.0198	0.0045	0.0050	0.0046	0.0039	0.0266	0.0078	0.0165	0.0058	0.0090	0.0049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	46021.53	35	chr19	501743	.	T	TCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGC,C,TCCCGACACCACCTCCCAGGAGC	46021.53	.	AC=29,4,1;AF=0.690,0.095,0.024;AN=42;BaseQRankSum=-6.390e-01;DP=1856;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=29,4,1;MLEAF=0.690,0.095,0.024;MQ=58.52;MQRankSum=-7.810e-01;QD=29.75;ReadPosRankSum=-1.790e+00;SOR=0.644	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,41,0,0:43:99:.:.:2745,198,0,2270,200,2166,2270,200,2166,2166	1	10	5	0
chr19	501749	501749	-	ACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGCCTCCCA	exonic	MADCAM1	.	nonframeshift insertion	MADCAM1:NM_130760:exon4:c.748_749insACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGCCTCCCA:p.S261_P262insQEPPNTTSQEPPDTTS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.983e-05	0	0	0	0	0	0	0.0003	6.5e-06	1	154602	rs764665294	2.309e-05	2.883e-05	1.668e-05	2.96e-05	0.0003	1.647e-05	1.449e-05	0.0002	0.0002	0	2.373e-05	0	0	0	0	3.653e-06	1.704e-05	0.0003	1.366e-05	2.012e-05	1.334e-05	1.401e-05	1.51e-05	2.27e-06	8.5e-07	.	.	0	0	0	0	0	0	0	1.51e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	316.94	90	chr19	501749	.	G	GACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGCCTCCCA	316.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.500e-02;DP=1716;ExcessHet=0.0000;FS=2.750;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.05;MQRankSum=-1.506e+00;QD=7.73;ReadPosRankSum=-1.153e+00;SOR=1.292	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:113,0:113:99:.:.:0,120,1800	20	0	1	0
chr19	501800	501800	-	CCACCTCCC	exonic	MADCAM1	.	nonframeshift insertion	MADCAM1:NM_130760:exon4:c.799_800insCCACCTCCC:p.K267delinsTTSQ,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1419142385	4.475e-05	8.624e-05	3.515e-05	5.455e-05	6.203e-05	3.575e-05	3.249e-05	3.428e-05	3.031e-05	0	2.688e-05	0	0	8.127e-05	0	4.427e-05	8.612e-05	6.203e-05	0.0002	0.0004	0.0002	0.0001	0.0002	0.0001	8.815e-05	0.0001	0.0001	4.917e-05	0	0.0001	0.0003	0	9.518e-05	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1040.94	94	chr19	501800	.	A	ACCACCTCCC	1040.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.215;DP=1655;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.71;MQRankSum=-1.874e+00;QD=15.54;ReadPosRankSum=1.41;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:98,0:98:99:.:.:0,120,1800	20	0	1	0
chr19	501802	501802	-	GAGCCTCCCGACACC	exonic	MADCAM1	.	nonframeshift insertion	MADCAM1:NM_130760:exon4:c.801_802insGAGCCTCCCGACACC:p.K267_T268insEPPDT,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1467217503	4.779e-05	7.885e-05	3.735e-05	5.872e-05	4.589e-05	3.758e-05	3.372e-05	3.457e-05	3.072e-05	0	4.086e-05	0	0	0.0002	0	4.589e-05	0.0001	3.804e-05	0.0009	0.0023	0.0010	0.0007	0.0019	0.0006	0.0005	0.0007	0.0005	0.0004	0	0.0005	0.0019	0	0.0009	0	0.0012	0	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	1048.35	92	chr19	501802	.	G	GGAGCCTCCCGACACC	1048.35	.	AC=1;AF=0.063;AN=16;BaseQRankSum=0.187;DP=1521;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.2174;MLEAC=2;MLEAF=0.125;MQ=59.71;MQRankSum=-1.874e+00;QD=15.65;ReadPosRankSum=1.30;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:86,0:86:0:.:.:0,0,1571	7	0	1	13
chr19	501876	501876	G	A	exonic	MADCAM1	.	nonsynonymous SNV	MADCAM1:NM_130760:exon4:c.G875A:p.R292H,	.	.	438	1062	19	3	0	25	0.0116333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.002	B	0.001	B	0.115	N	1.000	N	0.695	N	2.61	T	-0.997	T	0.021	T	0.134	1.413	10.66	-3.97	-0.608	-0.703	3.463	0.014	.	0.0004	0.00239617	0.0049	0	0.0014	0	0	0.0010	0	0.0135	0.0011319	175	154602	rs200332335	0.0010	0.0010	0.0007	0.0013	0.0087	0.0010	0.0009	0.0081	0.0079	0.0004	0.0004	0	2.797e-05	4.213e-05	0.0073	0.0005	0.0014	0.0087	0.0006	0.0006	0.0006	0.0007	0.0100	0.0005	0.0005	0.0078	0.0070	9.654e-05	0	0.0006	0	0	0	0.0034	0.0005	0.0010	0.0100	0.103	0.30097	T	0.042	0.53426	D	0.002	0.09854	B	0.001	0.04355	B	0.114668	0.02671	N	2.253530	1	0.08975	N	0.695	0.17993	N	2.61	0.13095	T	-0.63	0.18459	N	0.056	0.05037	-0.9974	0.30646	T	0.021	0.08870	T	10	0.0036066473	0.00065	T	.	.	.	0.014	0.01968	.	.	0.0806252709748	0.07271	0.14869288232791517	0.14791	0.562103597048	0.52702	0.186702221632	0.00172	T	0.019228	0.31079	T	-0.676698	0.00050	T	-0.739256	0.03922	T	0.0151887775389658	0.00332	T	0.824517	0.48627	T	0.024933673	0.01376	0.018512215	0.00058	0.024933673	0.01376	0.018512215	0.00058	-3.953	0.23098	T	.	.	0.093	0.13969	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.187974	0.05743	2.189	0.8458847076980146	0.15380	0.00274	0.01486	N	AEFDBI	0.040199	0.05944	N	-1.19802033786692	0.05030	0.2283678	-1.30666015791695	0.04344	0.2046673	0.983301546453494	0.30538	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	3.3	-3.97	0.03821	-1.871000	0.01732	-14.423000	0.00404	0.650000	0.52971	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2232:0.0:0.2733:0.5035	3.463	0.07106	988	0.01987	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	513.98	38	chr19	501876	.	G	A	513.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.695;DP=940;ExcessHet=0.0000;FS=1.037;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.35;ReadPosRankSum=0.753;SOR=0.941	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,100,1800	20	0	1	0
chr19	507647	507647	G	-	exonic	TPGS1	.	frameshift deletion	TPGS1:NM_033513:exon1:c.141delG:p.M47Ifs*7,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1095.94	38	chr19	507646	.	TG	T	1095.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.680e-01;DP=797;ExcessHet=0.0000;FS=2.897;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=0.956;SOR=0.642	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr19	549093	549093	C	T	exonic	GZMM	.	nonsynonymous SNV	GZMM:NM_001258351:exon4:c.C403T:p.R135C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.94	D	0.589	U	1.000	N	2.215	M	-2.45	D	-0.136	T	0.678	D	0.28	2.579	14.58	-5.74	-1.324	-0.664	1.956	0.345	0.327217623926	.	0.000399361	0.0003	0	0	0.0003	0	4.627e-05	0	0.0009	9.7e-05	15	154602	rs549703952	0.0001	0.0001	9.122e-05	0.0002	0.0017	0.0001	0.0001	0.0015	0.0014	3.011e-05	2.491e-05	0	5.19e-05	0	0.0005	2.91e-05	0.0002	0.0017	6.582e-05	6.564e-05	2.575e-05	0.0001	0.0021	3.522e-05	2.62e-05	0.0011	0.0009	0	0	0	0	0	0	0	0	0	0.0021	0.001	0.78490	D	0.015	0.61642	D	0.998	0.73220	D	0.94	0.67560	D	0.588851	0.11070	U	0.663319	1	0.08975	N	1.06	0.26948	L	-2.45	0.88847	D	-3.43	0.67359	D	0.283	0.32037	-0.1359	0.79264	T	0.678	0.88870	D	10	0.07312745	0.11007	T	0.327218	0.91647	D	0.345	0.66676	.	.	0.834332070228	0.83275	0.4897540887096439	0.48895	0.394897662239	0.40640	0.46452575922	0.33930	T	0.552066	0.84851	D	-0.327706	0.06287	T	-0.293944	0.45361	T	0.158856993623988	0.17787	T	0.832517	0.50110	T	0.3691063	0.58519	0.53796077	0.73299	0.3691063	0.58519	0.53796077	0.73299	-10.589	0.77357	D	.	.	0.313	0.56520	B	.;.	.;.	2.494783	0.32192	18.97	0.99411775081558751	0.63310	0.03467	0.08621	N	AEFDBHCI	0.037406	0.05139	N	-0.573420865056525	0.19755	1.036402	-0.944051513637879	0.11061	0.5612132	0.633807362706232	0.21992	0.581397	0.33459	0	0.78372	0.99691	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.87	-5.74	0.02197	-1.995000	0.01562	-2.028000	0.04322	0.497000	0.22564	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4748:0.2527:0.1576:0.115	1.956	0.03171	994	0.00715	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	506.98	33	chr19	549093	.	C	T	506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.76;DP=795;ExcessHet=0.0000;FS=2.014;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.26;ReadPosRankSum=-2.359e+00;SOR=1.007	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1185	20	0	1	0
chr19	617466	617466	A	G	exonic	POLRMT	.	nonsynonymous SNV	POLRMT:NM_005035:exon20:c.T3596C:p.L1199S,	.	.	427	1077	18	0	0	18	0.00828729	.	.	728450	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.79	T	0.003	B	0.026	B	0.000	N	1.000	N	0.125	N	0.75	T	-1.024	T	0.042	T	0.093	-0.243	2.829	-5.27	-1.253	-0.629	6.106	0.056	.	0.0047	0.00319489	0.0061	0.0018	0.0059	0	0.0022	0.0090	0.0049	0.0028	0.0057826	894	154602	rs151287767	0.0077	0.0077	0.0078	0.0075	0.0130	0.0075	0.0075	0.0105	0.0096	0.0014	0.0068	0.0052	0	0.0032	0.0130	0.0087	0.0079	0.0033	0.0058	0.0059	0.0061	0.0055	0.0097	0.0055	0.0053	0.0085	0.0080	0.0014	0	0.0097	0.0049	0	0.0033	0.0136	0.0085	0.0109	0.0031	.	.	.	0.445	0.13140	T	0.003	0.11197	B	0.026	0.20792	B	0.000046	0.00387	N	9.009160	1	0.08975	N	0.695	0.17993	N	.	.	.	.	.	.	0.149	0.15187	-1.0240	0.22410	T	0.042	0.17952	T	10	0.0049084723	0.00105	T	.	.	.	.	.	.	.	0.163833314356	0.15978	0.4567661953493399	0.45594	0.0288100514737	0.02965	0.396012067795	0.24514	T	0.007223	0.06635	T	-0.60466	0.00136	T	-0.63408	0.10107	T	0.000821622846927263	0.00008	T	0.19908	0.02235	T	0.13238767	0.30827	0.1380573	0.32981	0.13238767	0.30827	0.1380573	0.32980	-2.29	0.04501	T	.	.	0.084	0.09868	B	.	.	0.119766	0.05175	1.692	0.31913970483794329	0.01823	0.00796	0.03248	N	AEFDGBHCI	0.015781	0.00318	N	-1.89541605862479	0.00351	0.01507178	-1.96734416740588	0.00358	0.01582588	0.898859477897704	0.26036	0.660377	0.49826	0	0.694456	0.67091	0	0.645312	0.48771	0	0.491896	0.07777	0	.	.	2.64	-5.27	0.02551	0.219000	0.17426	-0.050000	0.12557	-0.986000	0.01871	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6335:0.0:0.2206:0.146	6.106	0.19293	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	454.98	35	chr19	617466	.	A	G	454.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.444e+00;DP=915;ExcessHet=0.0000;FS=1.083;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.75;ReadPosRankSum=-9.000e-03;SOR=0.777	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,120,1800	20	0	1	0
chr19	651651	651651	G	A	exonic	RNF126	.	nonsynonymous SNV	RNF126:NM_194460:exon4:c.C403T:p.R135W,	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	1.0	D	0.992	D	0.000	D	0.999	D	2.42	M	2.31	T	-1.074	T	0.104	T	0.805	4.195	21.8	2.18	0.377	2.168	10.894	0.277	0.130127928395	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1335643674	1.169e-05	2.394e-05	1.728e-05	5.936e-06	3.17e-05	6.92e-06	5.6e-06	8.45e-06	6.7e-06	0	3.17e-05	0	0	0	0	1.407e-05	0	0	1.315e-05	1.313e-05	2.571e-05	0	6.549e-05	2.19e-06	8.2e-07	.	.	2.414e-05	0	6.549e-05	0	0	0	0	0	0	0	0.002	0.72154	D	0.002	0.79402	D	.	.	.	.	.	.	0.000001	0.62929	D	0.000000	0.998517	0.45021	D	2.85	0.82803	M	2.31	0.16794	T	-4.36	0.76980	D	0.881	0.87917	-1.0738	0.08598	T	0.104	0.38119	T	10	0.8167276	0.80906	D	0.130128	0.81225	D	0.277	0.59375	0.439	0.49321	0.367258803036	0.36341	.	.	0.792071318349	0.65852	0.749665856361	0.74398	T	0.366	0.73107	T	0.0625735	0.59936	T	-0.147894	0.59429	T	0.991392970085144	0.81685	D	0.934307	0.75413	D	0.32001677	0.54641	0.22305685	0.47171	0.32001677	0.54641	0.22305685	0.47170	-7.224	0.55653	T	.	.	0.340	0.55903	B	.	.	5.335191	0.89527	30	0.99795827583480468	0.88106	0.96854	0.71299	D	AEFDBI	0.759106	0.69754	D	0.175803588070804	0.50039	3.197868	0.0873303522772303	0.43909	2.683078	0.0165644311049104	0.12846	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	4.42	2.18	0.26813	2.234000	0.42681	4.553000	0.43811	-0.259000	0.06933	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:0.0:0.6578:0.3422	10.894	0.46222	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1283.98	41	chr19	651651	.	G	A	1283.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.113;DP=843;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.52;ReadPosRankSum=1.18;SOR=0.708	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1135	20	0	1	0
chr19	691995	691995	G	A	exonic	PRSS57	.	nonsynonymous SNV	PRSS57:NM_001308209:exon3:c.C241T:p.R81C	.	.	429	1076	15	2	0	19	0.00875173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.999	D	0.892	P	0.057	N	1.000	N	1.965	M	-2.54	D	-0.483	T	0.075	T	0.344	2.623	14.73	-3.68	-0.262	0.275	4.661	0.364	.	0.0005	0.0181709	0.0131	0.0001	0.0033	0.1229	0.0003	0.0007	0.0063	0.0241	0.0082082	1269	154602	rs76977862	0.0037	0.0038	0.0037	0.0038	0.1050	0.0036	0.0036	0.1019	0.1007	0.0002	0.0012	0.0004	0.1050	0.0013	0.0031	0.0002	0.0044	0.0214	0.0042	0.0043	0.0031	0.0055	0.0927	0.0040	0.0039	0.0858	0.0831	0.0001	0	0.0004	0.0003	0.0927	0.0018	0	0.0003	0.0033	0.0224	.	.	.	0.049	0.49120	D	0.998	0.73220	D	0.892	0.63276	P	0.057210	0.02095	N	2.309790	1	0.08975	N	1.65	0.42232	L	.	.	.	.	.	.	0.337	0.38129	-0.4828	0.69267	T	0.075	0.30210	T	10	0.0027598143	0.00043	T	.	.	.	0.364	0.68407	.	.	0.24896430686	0.24499	0.3307757033672906	0.32990	0.0849568686431	0.09603	0.43369615078	0.29715	T	0.310892	0.68282	T	-0.500311	0.00569	T	-0.414874	0.31663	T	0.0506395642369326	0.05612	T	0.775222	0.40690	T	0.36636472	0.58315	0.2687452	0.52747	0.36636472	0.58316	0.2687452	0.52746	-7.427	0.57095	T	.	.	0.276	0.52630	B	.;.	.;.	2.755273	0.36121	20.2	0.99553447963465358	0.71273	0.02967	0.07808	N	AEFI	0.108193	0.21531	N	-0.452267172667099	0.23662	1.272	-0.744613108377847	0.15854	0.8359072	7.77420006893371E-6	0.01202	0.514905	0.20481	0	0.573888	0.26702	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	4.28	-3.68	0.04175	-0.065000	0.11575	0.144000	0.15210	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0896:0.4038:0.3696:0.1371	4.661	0.12030	994	0.00715	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1195.98	37	chr19	691995	.	G	A	1195.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.85;DP=901;ExcessHet=0.0000;FS=5.588;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=1.45;SOR=1.277	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr19	830768	830768	G	A	exonic	AZU1	.	nonsynonymous SNV	AZU1:NM_001700:exon4:c.G421A:p.A141T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.994	D	0.552	P	.	.	1.000	N	0.99	L	-2.52	D	-0.521	T	0.396	T	0.277	-0.464	1.854	-0.857	-0.175	-0.027	2.156	0.268	0.0829172655304	0.0018	0.00219649	0.0007	0.0069	0.0004	0.0001	0	7.896e-05	0	6.686e-05	0.0005757	89	154602	rs28664760	0.0003	0.0003	0.0003	0.0003	0.0062	0.0003	0.0003	0.0055	0.0053	0.0062	0.0004	0	2.52e-05	0	0.0005	0.0001	0.0005	9.288e-05	0.0020	0.0020	0.0021	0.0019	0.0070	0.0018	0.0018	0.0064	0.0061	0.0070	0	0.0006	0	0	0	0	0.0001	0	0	0.574	0.06106	T	0.462	0.12526	T	0.994	0.66517	D	0.552	0.49293	P	.	.	.	.	1	0.08975	N	0.37	0.12060	N	-2.52	0.89363	D	-1.11	0.28703	N	0.09	0.11054	-0.5213	0.67866	T	0.396	0.74836	T	9	0.00537917	0.00118	T	0.082917	0.74005	D	0.268	0.58254	.	.	0.809066763523	0.80727	0.6808871234300298	0.68027	0.2127558496	0.23780	0.478011310101	0.35783	T	0.189471	0.54371	T	-0.379956	0.03118	T	-0.312725	0.43365	T	0.014062140385638	0.00273	T	.	.	.	0.061105035	0.12615	0.07059924	0.15018	0.061105035	0.12614	0.07059924	0.15018	-4.299	0.28163	T	.	.	0.079	0.10449	B	.;.	.;.	1.345160	0.17522	13.21	0.5726655315523661	0.05732	0.03142	0.08099	N	AEFBCI	0.031302	0.03314	N	-0.824049028336957	0.12697	0.6205701	-1.06456135479495	0.08406	0.4131875	6.10574882283381E-4	0.07437	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	1.6	-0.857	0.10151	-0.087000	0.11181	-0.262000	0.10418	0.552000	0.28158	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.2028:0.0:0.4941:0.3032	2.156	0.03579	994	0.00715	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2210.98	36	chr19	830768	.	G	A	2210.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=1049;ExcessHet=0.0000;FS=4.787;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.91;ReadPosRankSum=1.22;SOR=0.458	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	20	0	1	0
chr19	868108	868108	C	G	exonic	MED16	.	nonsynonymous SNV	MED16:NM_005481:exon16:c.G2627C:p.R876P,	.	.	425	1067	30	0	0	30	0.0138632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.146	B	0.011	B	0.042	N	1.000	N	0	N	1.36	T	-1.040	T	0.034	T	0.181	0.674	7.606	-1.68	-1.487	-1.920	5.483	0.011	.	0.0076	0.00399361	0.0090	0.0035	0.0029	0.0001	0.0038	0.0130	0.0088	0.0069	0.0081047	1253	154602	rs147510499	0.0095	0.0095	0.0094	0.0097	0.0133	0.0094	0.0093	0.0108	0.0103	0.0022	0.0037	0.0269	2.521e-05	0.0036	0.0133	0.0105	0.0083	0.0060	0.0075	0.0075	0.0074	0.0076	0.0119	0.0071	0.0070	0.0112	0.0109	0.0020	0.0066	0.0050	0.0239	0	0.0026	0.0102	0.0119	0.0118	0.0048	0.0	0.91255	D	0.025	0.56192	D	0.146	0.27821	B	0.011	0.15521	B	0.042390	0.01905	N	3.220600	1	0.08975	N	0	0.06538	N	1.36	0.34452	T	-0.05	0.07736	N	0.117	0.19325	-1.0405	0.17162	T	0.034	0.14552	T	10	0.0022740662	0.00033	T	.	.	.	0.011	0.01250	.	.	0.0482279557977	0.04254	0.3392394637746466	0.33836	.	.	0.239911496639	0.02783	T	0.033685	0.23013	T	-0.565992	0.00234	T	-0.575397	0.14959	T	0.00780645400498342	0.00091	T	0.268873	0.04498	T	0.1468006	0.33589	0.11648169	0.28118	0.1468006	0.33588	0.11648169	0.28117	-2.904	0.09183	T	.	.	0.088	0.54961	B	.;.;.	.;.;.	-0.013505	0.04192	1.017	0.83938401413453423	0.15004	0.02277	0.06569	N	AEFBCI	0.054650	0.09954	N	-1.71477409777989	0.00790	0.03415921	-1.82465292834229	0.00683	0.03041107	0.999943868519029	0.47345	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	0.84	-1.68	0.07773	-0.534000	0.06238	-1.958000	0.04434	-2.637000	0.00226	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3511:0.0:0.6489	5.483	0.16026	994	0.00715	.;.;.	CFD	Whole_Blood	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	427.98	33	chr19	868108	.	C	G	427.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.444;DP=721;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.95;ReadPosRankSum=1.64;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:24,0:24:72:.:.:0,72,751	20	0	1	0
chr19	932642	932642	C	A	exonic	ARID3A	.	nonsynonymous SNV	ARID3A:NM_005224:exon3:c.C593A:p.P198Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.006	B	0.002	B	0.770	N	1.000	N	0.205	N	1.13	T	-1.036	T	0.048	T	0.09	1.135	9.624	-1.42	-0.075	-0.038	3.309	0.027	0.0197603760681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.555	0.11263	T	0.006	0.13644	B	0.002	0.06944	B	0.769568	0.09558	N	0.880899	1	0.08975	N	0.365	0.12025	N	1.13	0.38556	T	-0.87	0.23590	N	0.165	0.17416	-1.0363	0.18450	T	0.048	0.20632	T	10	0.0438717	0.03283	T	0.01976	0.42203	T	0.027	0.05988	0.145	0.04843	0.19670166235	0.19296	0.06495002367653956	0.06434	0.153664857252	0.17337	0.52644610405	0.42534	T	0.080836	0.36457	T	-0.292647	0.09373	T	-0.658144	0.08392	T	0.0354856006545136	0.02890	T	0.544846	0.19755	T	0.09300252	0.21832	0.049545016	0.07593	0.09300252	0.21831	0.049545016	0.07592	-6.212	0.48020	T	.	.	0.068	0.02861	B	.;.	.;.	0.945193	0.13213	9.711	0.94381626725404566	0.24754	0.02548	0.07073	N	AEFDGBHCI	0.033503	0.03990	N	-1.00789346141165	0.08439	0.3956912	-1.01427212959898	0.09471	0.4713781	0.999999654415179	0.74766	0.722319	0.85440	0	0.52208	0.09955	0	0.698795	0.65105	0	0.699875	0.68795	0	.	.	3.81	-1.42	0.08446	-0.057000	0.11726	0.248000	0.16392	-0.342000	0.05666	0.000000	0.06391	0.000000	0.08366	0.479000	0.28543	0.3631:0.3488:0.0:0.2881	3.309	0.06599	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	759.98	33	chr19	932642	.	C	A	759.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.010e-01;DP=766;ExcessHet=0.0000;FS=2.528;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.20;ReadPosRankSum=-3.640e-01;SOR=0.368	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1125	20	0	1	0
chr19	1003241	1003241	C	T	exonic	GRIN3B	.	nonsynonymous SNV	GRIN3B:NM_138690:exon2:c.C538T:p.R180C,	.	.	420	1094	8	0	0	8	0.00364299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.033	B	0.007	B	0.988	N	0.593	D	1.245	L	2.72	T	-1.048	T	0.031	T	0.239	0.421	6.285	2.35	0.641	1.686	9.432	0.032	0.0526925060201	0.0004	0.00119808	0.0006	0	0	0	0	0.0010	0	0.0003	0.0003169	49	154602	rs201484790	0.0006	0.0006	0.0006	0.0006	0.0020	0.0006	0.0005	0.0011	0.0009	9.605e-05	0.0004	4.036e-05	0	6.031e-05	0.0020	0.0007	0.0007	0.0004	0.0004	0.0004	0.0004	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	0.0001	0	0.0003	0	0	0	0.0034	0.0006	0.0019	0.0004	0.059	0.37536	T	0.078	0.42261	T	0.033	0.20350	B	0.007	0.12992	B	0.988350	0.08047	N	0.994265	0.592816	0.32471	D	1.32	0.33002	L	2.72	0.11947	T	-1.72	0.40850	N	0.295	0.33360	-1.0477	0.15045	T	0.031	0.13374	T	10	0.020125479	0.00459	T	0.052693	0.65173	D	0.032	0.07718	.	.	0.440915056915	0.43709	0.49330729102186666	0.49251	0.160666059262	0.18132	0.788057684898	0.80147	T	0.086221	0.37676	T	-0.500745	0.00566	T	-0.583612	0.14223	T	0.0342810146935094	0.02686	T	0.551745	0.19033	T	0.081757136	0.18801	0.04599558	0.06313	0.081757136	0.18801	0.04599558	0.06313	-7.606	0.58353	D	.	.	0.265	0.49960	B	.	.	3.125485	0.42209	21.5	0.97680791043305082	0.35311	0.65860	0.32880	D	AEFDBI	0.085598	0.17354	N	-0.606176760632863	0.18758	0.9764332	-0.596855689087865	0.19574	1.050839	0.0123213860410079	0.12311	0.646311	0.45356	0	0.578056	0.33634	0	0.645312	0.48771	0	0.421638	0.06922	2	.	.	3.4	2.35	0.28166	1.519000	0.35495	1.326000	0.25636	-0.288000	0.06323	0.816000	0.29934	0.746000	0.26516	0.001000	0.02609	0.0:0.89:0.0:0.11	9.432	0.37776	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	902.98	42	chr19	1003241	.	C	T	902.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.00;DP=814;ExcessHet=0.0000;FS=0.926;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.28;ReadPosRankSum=-4.550e-01;SOR=0.504	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	20	0	1	0
chr19	1005305	1005305	G	A	exonic	GRIN3B	.	nonsynonymous SNV	GRIN3B:NM_138690:exon3:c.G1804A:p.G602S,	.	.	425	1092	5	0	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	1.0	D	0.000	D	1.000	D	2.285	M	0.68	T	-0.430	T	0.297	T	0.668	3.739	18.99	4.36	2.012	9.675	15.515	0.505	0.11202838011	.	.	2.492e-05	0	0	0.0002	0	1.517e-05	0	0	1.94e-05	3	154602	rs556153075	1.711e-05	1.71e-05	1.634e-05	1.788e-05	0.0002	1.174e-05	9.93e-06	0.0001	8.775e-05	2.987e-05	4.472e-05	0	0.0002	0	0.0002	2.698e-06	3.313e-05	8.116e-05	6.563e-06	6.561e-06	0	1.342e-05	2.405e-05	0	0	.	.	2.405e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	2.445	0.70938	M	0.68	0.51952	T	-5.63	0.86836	D	0.758	0.75650	-0.4304	0.71054	T	0.297	0.66811	T	10	0.9229808	0.91649	D	0.112028	0.79002	D	0.505	0.78662	0.781	0.90541	0.755748429859	0.75352	0.8517997488879407	0.85141	0.547506456974	0.51718	0.730599582195	0.71594	T	0.608666	0.87565	D	-0.112016	0.34435	T	-0.0983552	0.63525	T	0.636053124424824	0.37870	D	0.983102	0.94254	D	0.8776762	0.89477	0.8132344	0.89106	0.8776762	0.89478	0.8132344	0.89107	-11.059	0.79980	D	.	.	0.303	0.53222	B	.	.	4.784782	0.77595	26.7	0.99779670058111847	0.86693	0.94233	0.60519	D	AEFDGBHCI	.	.	.	0.620766201004232	0.74488	6.141512	0.525761628056072	0.69730	5.402136	0.999999956646965	0.74766	0.580535	0.33130	0	0.514364	0.08380	0	0.576033	0.28219	0	0.664235	0.64389	0	.	.	4.36	4.36	0.51643	9.807000	0.98261	8.491000	0.77329	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.104000	0.18471	0.0:0.0:1.0:0.0	15.515	0.75549	994	0.00715	Ionotropic glutamate receptor|Ionotropic glutamate receptor	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2365.98	66	chr19	1005305	.	G	A	2365.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=1427;ExcessHet=0.0000;FS=1.094;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=0.968;SOR=0.604	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	20	0	1	0
chr19	1012159	1012159	G	A	exonic	TMEM259	.	nonsynonymous SNV	TMEM259:NM_001033026:exon5:c.C748T:p.R250C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.999	D	0.935	D	0.001	D	1.000	D	1.385	L	.	.	-0.623	T	0.255	T	0.54	3.593	18.30	3.99	2.056	2.547	9.321	0.317	0.0124752271535	.	.	1.343e-05	0	0	0	0	2.44e-05	0	0	6.5e-06	1	154602	rs747628492	7.564e-06	8.893e-06	9.572e-06	5.533e-06	0.0011	4.06e-06	2.97e-06	0.0005	0.0003	2.999e-05	0	0	2.542e-05	0	0.0011	2.705e-06	0	0	3.283e-05	3.281e-05	2.57e-05	4.028e-05	4.811e-05	1.26e-05	7.97e-06	7.97e-06	2.98e-06	4.811e-05	0	0	0	0	0	0.0034	2.941e-05	0	0	0.041	0.41915	D	0.054	0.49120	T	0.997	0.77913	D	0.935	0.67021	D	0.000880	0.41335	D	0.202573	0.999746	0.48716	D	1.445	0.36358	L	.	.	.	-3.41	0.73477	D	0.753	0.75927	-0.6229	0.63868	T	0.255	0.62496	T	9	0.79755306	0.79206	D	0.012475	0.31071	T	0.317	0.63904	0.68	0.81788	0.123314135267	0.11883	0.5121244731856338	0.51134	1.12942352786	0.78560	0.800991535187	0.82114	T	0.176196	0.52605	T	0.0188268	0.54224	T	-0.210733	0.53625	T	0.922078371047974	0.58204	D	0.981302	0.94867	D	0.19507973	0.41282	0.15541324	0.36431	0.19507973	0.41282	0.15541324	0.36430	-8.92	0.67181	D	.	.	0.434	0.66364	A	.;.;.	.;.;.	5.318969	0.89281	29.9	0.99878389614782748	0.95491	0.87917	0.47625	D	AEFDBI	0.581509	0.58150	D	0.401511179758427	0.61506	4.353	0.372878450981056	0.59898	4.171729	0.875740136018926	0.25511	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.99	3.99	0.45527	2.769000	0.47338	11.432000	0.92743	0.562000	0.28470	1.000000	0.71638	1.000000	0.68203	0.916000	0.45140	0.0:0.0:0.6541:0.3459	9.321	0.37124	994	0.00715	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2483.08	26	chr19	1012159	.	G	A	2483.08	.	AC=2;AF=0.048;AN=42;DP=789;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=27.29;SOR=0.855	GT:AD:DP:GQ:PL	0/0:31,0:31:75:0,75,1125	20	1	0	0
chr19	1046318	1046318	C	A	exonic	ABCA7	.	nonsynonymous SNV	ABCA7:NM_019112:exon13:c.C1534A:p.R512S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.428	B	0.081	B	.	.	1.000	N	1.525	L	-3.36	D	-0.159	T	0.647	D	0.352	1.918	12.37	1.11	0.410	-0.011	9.029	0.231	0.0817556597745	.	.	1.692e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs367592755	1.722e-05	1.779e-05	1.783e-05	1.661e-05	0.0010	1.182e-05	9.99e-06	0.0005	0.0003	2.992e-05	0	0	0.0002	0	0.0010	8.998e-06	0	0	3.282e-05	3.281e-05	1.285e-05	5.369e-05	0.0008	1.26e-05	7.97e-06	0.0003	0.0002	0	0	0	0	0.0008	0	0.0034	0	0	0	0.009	0.57480	D	0.11	0.37310	T	0.428	0.35540	B	0.081	0.28987	B	.	.	.	.	0.999999	0.08975	N	2.25	0.63811	M	-3.36	0.94067	D	-1.87	0.43717	N	0.215	0.26717	-0.1590	0.78696	T	0.647	0.87672	D	9	0.07790175	0.12351	T	0.081756	0.73753	D	0.231	0.53208	0.51	0.60693	0.877000883397	0.87579	0.7273982828015781	0.72683	0.125686490203	0.14172	0.474880456924	0.35354	T	0.282209	0.65494	T	-0.178305	0.23989	T	-0.129736	0.60994	T	0.047224033705243	0.05005	T	0.746125	0.36682	T	0.118657626	0.27953	0.13376944	0.32068	0.118657626	0.27953	0.13376944	0.32068	-8.207	0.64191	D	.	.	0.186	0.40131	B	.;.;.	.;.;.	1.092738	0.14763	11.31	0.98139594905107574	0.38588	0.22042	0.21612	N	AEFBCIJ	0.103751	0.20778	N	-0.553298074738348	0.20380	1.073944	-0.576170334907314	0.20115	1.082293	0.832947555670472	0.24726	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.699875	0.68795	0	.	.	4.85	1.11	0.19640	0.006000	0.13051	0.108000	0.14741	0.518000	0.23583	0.001000	0.13787	0.003000	0.18671	0.441000	0.27694	0.1324:0.5161:0.3515:0.0	9.029	0.35409	988	0.01987	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3554.08	37	chr19	1046318	.	C	A	3554.08	.	AC=2;AF=0.048;AN=42;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.43;SOR=0.709	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	1	0	0
chr19	1057344	1057344	G	A	exonic	ABCA7	.	nonsynonymous SNV	ABCA7:NM_019112:exon35:c.G4795A:p.V1599M,	.	.	411	1099	12	0	0	12	0.00542986	.	.	486205	not_provided|ABCA7-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	.	.	0.761	N	2.15	M	-2.27	D	0.132	D	0.660	D	0.502	2.793	15.30	3.65	1.877	0.904	8.156	0.080	0.0995254825762	0.0027	0.00179712	0.0031	0.0005	0.0021	0	0.0070	0.0041	0.0044	0.0012	0.0031112	481	154602	rs117187003	0.0033	0.0033	0.0032	0.0034	0.0168	0.0032	0.0032	0.0141	0.0131	0.0008	0.0025	0.0031	0	0.0079	0.0168	0.0035	0.0027	0.0011	0.0037	0.0037	0.0037	0.0037	0.0041	0.0034	0.0033	0.0037	0.0035	0.0004	0.1022	0.0041	0.0029	0	0.0082	0.0102	0.0041	0.0033	0.0010	0.001	0.78490	D	0.054	0.47828	T	0.987	0.61912	D	0.932	0.66722	D	.	.	.	.	0.76055	0.29543	N	2.69	0.78713	M	-2.27	0.87433	D	-2.37	0.52289	N	0.557	0.69037	0.132	0.84750	D	0.660	0.88182	D	9	0.010641903	0.00236	T	0.099525	0.77123	D	0.576	0.82855	.	.	0.873717984576	0.87249	0.6994048819914612	0.69881	0.528900676106	0.50453	0.586454153061	0.50994	T	0.505722	0.82423	D	-0.207642	0.19713	T	-0.0659129	0.65917	T	0.0375366518672246	0.03249	T	0.954405	0.83814	D	0.45816505	0.64557	0.6654882	0.80387	0.4785998	0.65816	0.6030397	0.76932	-7.684	0.58896	D	.	.	0.213	0.44319	B	.;.;.	.;.;.	4.711281	0.75686	26.4	0.99694698335050624	0.80180	0.26837	0.23107	N	ALL	0.159258	0.28503	N	0.465227464636032	0.65071	4.776725	0.38407411922275	0.60584	4.247448	0.999999900657339	0.74766	0.77792	0.99625	0	0.854111	0.99885	0	0.635938	0.45252	0	0.629945	0.49285	0	.	.	3.65	3.65	0.40985	1.357000	0.33694	5.101000	0.47435	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.1137:0.0:0.8863:0.0	8.156	0.30330	988	0.01987	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1003.98	37	chr19	1057344	.	G	A	1003.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.150e-01;DP=838;ExcessHet=0.0000;FS=1.369;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.07;ReadPosRankSum=0.513;SOR=0.630	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1274	20	0	1	0
chr19	1068442	1068442	C	T	exonic	ARHGAP45	.	nonsynonymous SNV	ARHGAP45:NM_001258328:exon2:c.C167T:p.A56V	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.802	P	0.2	B	0.838	N	1.000	N	1.995	M	2.02	T	-1.033	T	0.047	T	0.172	2.303	13.66	0.572	0.363	0.096	8.401	0.043	0.0755395283855	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs770630672	1.545e-05	1.779e-05	1.529e-05	1.561e-05	1.738e-05	1.011e-05	8.64e-06	1.112e-05	8.96e-06	0	0	0	0	0	0	1.738e-05	5.111e-05	0	6.569e-06	6.566e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.12	0.60972	T	0.09	0.25173	B	0.01	0.14941	B	0.837542	0.09059	N	0.912957	1	0.19486	N	1.555	0.39373	L	1.98	0.48142	T	-0.67	0.22944	N	0.168	0.18239	-1.0328	0.19554	T	0.047	0.20195	T	10	0.07466942	0.11443	T	0.07554	0.72313	D	0.043	0.11576	0.161	0.06507	0.146414634003	0.14194	0.23841772686877274	0.23755	0.718610679393	0.62102	0.516645789146	0.41155	T	0.031027	0.21850	T	-0.210656	0.19287	T	-0.540369	0.18259	T	0.200666770339012	0.20452	T	0.725627	0.39623	T	0.08103425	0.18598	0.061775234	0.11982	0.08103425	0.18598	0.061775234	0.11982	-4.318	0.29147	T	.	.	0.075	0.09094	B	.;.;.;.;.	.;.;.;.;.	1.097848	0.14821	11.35	0.99373130028019341	0.61541	0.11051	0.16374	N	AEFDGBCI	0.086497	0.17538	N	-0.677550641802455	0.16663	0.8509206	-0.820865294708477	0.13990	0.7287136	0.999998871830486	0.74766	0.646311	0.45356	0	0.52208	0.09955	0	0.645312	0.48771	0	0.505526	0.08623	0	.	.	4.01	0.572	0.16542	-0.084000	0.11233	0.458000	0.18589	0.445000	0.21165	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7266:0.0:0.2734	8.401	0.31749	982	0.03397	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	909.98	76	chr19	1068442	.	C	T	909.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.771;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=1.75;SOR=0.701	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1304	20	0	1	0
chr19	1068707	1068707	G	C	exonic	ARHGAP45	.	nonsynonymous SNV	ARHGAP45:NM_001258328:exon2:c.G432C:p.E144D	.	.	411	1110	1	0	0	1	0.000450248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.021	B	0.013	B	0.000	D	1.000	D	0.315	N	2.12	T	-1.024	T	0.021	T	0.062	1.308	10.28	1.99	0.396	0.827	3.689	0.099	0.00851865117645	.	.	7.015e-05	0	0	0	0	0	0	0.0005	5.17e-05	8	154602	rs761820917	2.397e-05	2.394e-05	1.635e-05	3.166e-05	0.0003	1.74e-05	1.54e-05	0.0002	0.0002	0	0	0	0	0	0	3.597e-06	4.968e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382	0.11120	T	1.0	0.19131	T	0.012	0.16265	B	0.008	0.13708	B	0.000018	0.62929	D	0.065834	0.73527	0.81001	D	0.34	0.10450	N	2.12	0.50976	T	-0.27	0.11366	N	0.175	0.22228	-1.0245	0.22246	T	0.021	0.08963	T	10	0.055672556	0.06121	T	0.008519	0.22532	T	0.099	0.28413	0.237	0.16760	0.139678290688	0.13603	0.4743057284776703	0.47349	0.660444123774	0.58870	0.434143871069	0.29775	T	0.019887	0.15761	T	-0.508701	0.00510	T	-0.62576	0.10738	T	0.0582356993620753	0.06887	T	0.854615	0.54143	D	0.093667746	0.22004	0.05040063	0.07904	0.093667746	0.22004	0.05040063	0.07903	-6.69	0.53070	T	.	.	0.129	0.40714	B	.;.;.;.;.	.;.;.;.;.	2.274212	0.29073	18.00	0.97039749326551916	0.32105	0.81888	0.41204	D	AEFDGBCIJ	0.422311	0.48837	N	-0.586735828800421	0.19347	1.011816	-0.429355418707364	0.24140	1.320268	0.99999981901958	0.74766	0.646311	0.45356	0	0.52208	0.09955	0	0.645312	0.48771	0	0.526803	0.08958	0	.	.	4.22	1.99	0.25423	0.629000	0.24229	2.848000	0.35122	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.539000	0.29915	0.1921:0.0:0.4396:0.3683	3.689	0.07873	982	0.03397	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1114.98	62	chr19	1068707	.	G	C	1114.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.510e+00;DP=849;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=2.05;SOR=0.718	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1304	20	0	1	0
chr19	1071341	1071341	G	A	exonic	ARHGAP45	.	nonsynonymous SNV	ARHGAP45:NM_001282335:exon1:c.G53A:p.C18Y,	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.902	P	0.202	B	.	.	0.984	N	.	.	2.11	T	-1.042	T	0.033	T	0.143	1.680	11.58	2.05	1.484	1.062	7.651	0.045	0.014981958383	.	.	0.0018	0	0	0	.	0	0	0.0024	8.41e-05	13	154602	rs753591775	0.0007	0.0006	0.0007	0.0007	0.0018	0.0006	0.0006	0.0015	0.0014	4.324e-05	0.0005	0	0	0.0002	0.0003	0.0007	0.0007	0.0018	0.0002	0.0002	0.0003	0.0002	0.0008	0.0002	0.0002	0.0003	0.0003	2.419e-05	0	0	0	0	9.806e-05	0	0.0004	0.0005	0.0008	0.0	0.91255	D	0.044	0.49663	D	0.902	0.49745	P	0.202	0.36942	B	.	.	.	.	1	0.24839	N	.	.	.	2.11	0.19860	T	-0.55	0.16799	N	0.272	0.30800	-1.0417	0.16800	T	0.033	0.14160	T	8	0.009696931	0.00218	T	0.014982	0.35442	T	0.045	0.12272	.	.	0.143124449307	0.13826	.	.	.	.	.	.	.	0.018637	0.14992	T	-0.571523	0.00217	T	-0.598657	0.12925	T	0.061389980878403	0.07386	T	0.424358	0.11346	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.22644	B	.	.	0.818823	0.11898	8.464	0.96988296483021841	0.31892	0.10100	0.15698	N	AEFDBHCI	0.056408	0.10426	N	-0.41881897673989	0.24810	1.342256	-0.601341491962818	0.19458	1.044079	0.999999996686491	0.74766	0.495885	0.18260	0	0.379588	0.06130	0	0.391439	0.06340	0	0.554799	0.18163	0	.	.	2.05	2.05	0.25860	0.666000	0.24779	1.940000	0.29824	0.582000	0.30178	0.001000	0.13787	0.242000	0.23858	0.018000	0.11154	0.0:0.0:1.0:0.0	7.651	0.27515	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	230.98	16	chr19	1071341	.	G	A	230.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.673;DP=537;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.22;ReadPosRankSum=-1.538e+00;SOR=0.616	GT:AD:DP:GQ:PL	0/1:20,12:32:99:245,0,434	20	0	1	0
chr19	1231034	1231034	A	-	exonic	CBARP	.	frameshift deletion	CBARP:NM_152769:exon9:c.1221delT:p.R408Gfs*120,	.	.	402	1117	3	0	0	3	0.00134108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	.	0.0007	0.0009	0.0014	0.0017	0	0.0005	0	0.0002	0.0005175	80	154602	rs771515759	0.0007	0.0007	0.0007	0.0007	0.0012	0.0006	0.0006	0.0009	0.0008	0.0006	0.0012	8.841e-05	0.0008	2.023e-05	0.0011	0.0007	0.0007	0.0005	0.0006	0.0006	0.0006	0.0007	0.0023	0.0005	0.0005	0.0013	0.0011	0.0005	0	0.0015	0.0003	0.0023	0	0	0.0005	0.0024	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1253.94	33	chr19	1231033	.	TA	T	1253.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.190e-01;DP=780;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.28;ReadPosRankSum=0.989;SOR=0.641	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1378	20	0	1	0
chr19	1360982	1360982	C	T	exonic	PWWP3A	.	nonsynonymous SNV	PWWP3A:NM_001369792:exon4:c.C857T:p.A286V	.	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.027	N	1.000	N	-0.695	N	1.92	T	-0.983	T	0.015	T	0.032	-0.604	1.304	-2.26	-0.497	-0.095	7.672	0.018	.	0.0073	0.00319489	0.0102	0	0	0	0.0455	0.0164	0	0.0018	0.0032859	508	154602	rs183898700	0.0093	0.0088	0.0097	0.0088	0.0109	0.0091	0.0091	0.0107	0.0106	0.0012	0.0031	0.0002	0	0.0082	0.0008	0.0109	0.0061	0.0002	0.0070	0.0070	0.0074	0.0066	0.0115	0.0067	0.0065	0.0108	0.0106	0.0020	0.0099	0.0057	0	0	0.0080	0	0.0115	0.0057	0.0012	0.504	0.07645	T	0.586	0.13365	T	.	.	.	.	.	.	0.027385	0.01667	N	14.924200	1	0.08975	N	.	.	.	1.92	0.23688	T	-0.42	0.14193	N	0.018	0.00252	-0.9832	0.34258	T	0.015	0.06282	T	10	0.003314197	0.00057	T	.	.	.	0.018	0.03083	.	.	0.0138822411134	0.00435	.	.	.	.	0.384165048599	0.22845	T	.	.	.	-0.762496	0.00014	T	-0.853769	0.00913	T	0.00203960481050828	0.00021	T	0.361564	0.08348	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.02370	B	.;.;.	.;.;.	-0.240346	0.02892	0.414	0.67059039778778273	0.08242	0.03686	0.08957	N	AEFDBHCIJ	0.039979	0.05882	N	-1.86774381386221	0.00400	0.01718104	-1.85605440571543	0.00596	0.02646938	0.999999999999958	0.74766	0.50712	0.20391	0	0.653731	0.59785	0	0.26897	0.05253	2	0.635259	0.50027	0	.	.	3.06	-2.26	0.06478	-0.056000	0.11744	-2.213000	0.04049	-1.010000	0.01767	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6254:0.0:0.3746	7.672	0.27630	952	0.10565	.;.;.	.	.	.	.	rs183898700	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	850.98	34	chr19	1360982	.	C	T	850.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.780e-01;DP=832;ExcessHet=0.0000;FS=0.995;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.42;ReadPosRankSum=0.363;SOR=0.556	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,111,1327	20	0	1	0
chr19	1478825	1478825	-	ATCCT	exonic	C19orf25	.	frameshift insertion	C19orf25:NM_152482:exon2:c.78_79insAGGAT:p.V27Rfs*27,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1010.94	40	chr19	1478825	.	C	CATCCT	1010.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.250e-01;DP=772;ExcessHet=0.0000;FS=1.166;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.06;ReadPosRankSum=-4.100e-02;SOR=0.468	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr19	1486906	1486906	C	T	exonic	PCSK4	.	nonsynonymous SNV	PCSK4:NM_017573:exon8:c.G1015A:p.A339T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.993	D	0.000	U	0.908	D	1.49	L	-2.28	D	0.440	D	0.671	D	0.249	3.502	17.90	2.71	1.221	0.355	9.573	0.464	0.39727811308	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1226103603	1.035e-05	1.368e-05	9.616e-06	1.109e-05	0.0005	6.21e-06	4.93e-06	0.0001	7.845e-05	0	0	0	0	0	0.0005	9.894e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.044	0.49663	D	1.0	0.90584	D	0.993	0.81110	D	0.000155	0.49130	U	0.000000	0.908117	0.36340	D	1.84	0.48285	L	-2.28	0.87512	D	-1.78	0.42001	N	0.438	0.47672	0.440	0.89693	D	0.671	0.88613	D	10	0.52542615	0.62881	D	0.397278	0.93320	D	0.464	0.76023	0.692	0.82938	0.81841434032	0.81670	0.7326781387279139	0.73212	0.698221793402	0.60958	0.564035892487	0.47837	T	0.139233	0.47315	T	0.0100071	0.53026	T	-0.223402	0.52408	T	0.798382937908173	0.46244	D	0.886711	0.61387	D	0.37792188	0.59165	0.32379535	0.58309	0.37792188	0.59166	0.32379535	0.58308	-7.947	0.60708	D	.	.	0.222	0.45359	B	.	.	4.211275	0.63621	24.6	0.99880793128740053	0.95733	0.13127	0.17678	N	AEFDBI	0.039317	0.05693	N	0.0566395154216379	0.44448	2.718711	-0.0765988019951697	0.36361	2.115029	0.0258453269683106	0.13674	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	2.71	2.71	0.31092	0.354000	0.19885	1.604000	0.27599	0.456000	0.21511	0.031000	0.20493	0.889000	0.27805	0.924000	0.46004	0.0:0.7829:0.2171:0.0	9.573	0.38603	970	0.06235	Peptidase S8/S53 domain|Kexin/furin catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	934.98	33	chr19	1486906	.	C	T	934.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=795;ExcessHet=0.0000;FS=10.838;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.36;ReadPosRankSum=-7.600e-02;SOR=2.021	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1329	20	0	1	0
chr19	1487614	1487614	G	A	exonic	PCSK4	.	nonsynonymous SNV	PCSK4:NM_017573:exon6:c.C671T:p.A224V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.866	P	0.462	P	0.511	U	1.000	D	2.17	M	-2.79	D	0.476	D	0.705	D	0.573	3.820	19.40	2.4	1.681	7.210	12.420	0.725	0.309526228803	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs773970377	2.215e-05	2.531e-05	1.693e-05	2.752e-05	0.0011	1.588e-05	1.383e-05	0.0005	0.0003	0.0001	0	0	0	0	0.0011	9.263e-06	5.168e-05	0.0001	6.57e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.78490	D	0.002	0.79402	D	0.866	0.47610	P	0.462	0.46509	P	0.511232	0.11842	U	0.701222	0.999785	0.49076	D	2.015	0.55033	M	-2.79	0.91019	D	-3.51	0.68298	D	0.796	0.79214	0.476	0.90211	D	0.705	0.89856	D	10	0.9618959	0.95609	D	0.309526	0.91141	D	0.725	0.90324	0.86	0.95774	0.853096349313	0.85167	0.7167036698953041	0.71613	0.538891071327	0.51137	0.593929171562	0.52049	T	0.456489	0.79523	T	0.161943	0.70380	D	-0.00515613	0.70001	D	0.942378342151642	0.61651	D	0.965003	0.87031	D	0.51309526	0.67860	0.507551	0.71540	0.51309526	0.67861	0.507551	0.71540	-9.219	0.69095	D	.	.	0.309	0.53724	B	.	.	3.929750	0.57431	23.9	0.99922007465267793	0.98787	0.98841	0.87561	D	AEFBI	0.846234	0.76312	D	0.303836781008114	0.56347	3.799097	0.220136010864965	0.50965	3.283308	0.99996074630231	0.48965	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	2.4	2.4	0.28568	6.254000	0.72414	7.361000	0.58346	0.511000	0.23309	1.000000	0.71638	1.000000	0.68203	0.669000	0.33223	0.0:0.0:1.0:0.0	12.420	0.54849	970	0.06235	Peptidase S8/S53 domain|Kexin/furin catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1115.98	33	chr19	1487614	.	G	A	1115.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.86;DP=920;ExcessHet=0.0000;FS=0.822;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.13;ReadPosRankSum=-5.100e-01;SOR=0.813	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	20	0	1	0
chr19	1488250	1488250	G	A	exonic	PCSK4	.	nonsynonymous SNV	PCSK4:NM_017573:exon3:c.C325T:p.R109W,	.	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.018	B	0.002	B	0.008	N	1.000	N	2.525	M	-0.66	T	-0.661	T	0.297	T	0.335	0.578	7.122	1.89	0.331	0.727	8.794	0.170	0.0747423114188	.	.	2.614e-05	0	0	0	0	3.165e-05	0	6.222e-05	1.94e-05	3	154602	rs752525290	8.898e-06	8.893e-06	9.535e-06	8.254e-06	0.0002	4.97e-06	3.83e-06	3.81e-06	2.76e-06	0	0	0	2.52e-05	0	0.0002	8.095e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	0.018	0.17786	B	0.002	0.06944	B	0.008208	0.30959	N	0.142348	1	0.08975	N	2.555	0.74557	M	-0.66	0.76561	T	-5.88	0.88699	D	0.339	0.38027	-0.6613	0.62219	T	0.297	0.66849	T	10	0.3130179	0.48756	T	0.074742	0.72116	D	0.170	0.43303	0.501	0.59304	0.82733789124	0.82570	0.5366279633579213	0.53587	0.204434301611	0.22868	0.440808176994	0.30688	T	0.362584	0.72847	T	-0.0913295	0.37857	T	-0.268335	0.47987	T	0.670863151550293	0.39376	D	0.850515	0.53399	D	0.24018294	0.46918	0.230621	0.48170	0.24018294	0.46918	0.230621	0.48169	-9.853	0.73027	D	.	.	0.096	0.24566	B	.;.	.;.	2.640854	0.34361	19.61	0.99376696818673771	0.61671	0.10928	0.16290	N	AEFBI	0.503051	0.53520	D	-0.553697497494307	0.20368	1.07319	-0.609011695943629	0.19261	1.032641	0.380549598631176	0.19956	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	2.98	1.89	0.24700	-0.030000	0.12257	2.699000	0.34147	0.581000	0.30040	0.000000	0.06391	0.793000	0.26880	0.024000	0.12247	0.0:0.0:0.4478:0.5522	8.794	0.34027	970	0.06235	Peptidase S8, pro-domain;Peptidase S8, pro-domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1547.98	46	chr19	1488250	.	G	A	1547.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.730e-01;DP=936;ExcessHet=0.0000;FS=2.363;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=-2.330e-01;SOR=0.960	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,111,1665	20	0	1	0
chr19	1529419	1529419	C	T	exonic	PLK5	.	nonsynonymous SNV	PLK5:NM_001243079:exon10:c.C419T:p.A140V,	.	.	366	1137	18	1	0	20	0.0087184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00199681	0.0099	0	0	0	0	0.0014	0.0227	0.0152	0.0011772	182	154602	rs138626853	0.0021	0.0020	0.0016	0.0025	0.0141	0.0020	0.0020	0.0134	0.0131	0.0002	0.0013	0.0017	2.799e-05	0.0001	0.0068	0.0014	0.0021	0.0141	0.0014	0.0014	0.0013	0.0015	0.0097	0.0013	0.0012	0.0075	0.0067	0.0003	0	0.0012	0.0017	0.0002	0.0004	0.0068	0.0019	0.0009	0.0097	.	.	.	.	.	.	0.002	0.14655	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	3.19	0.08810	T	.	.	.	0.015	0.00203	.	.	.	.	.	.	.	0.0056942105	0.00126	T	.	.	.	.	.	.	.	0.27479166964	0.27093	0.17516813675672804	0.17435	0.00214713130342	0.00184	0.292890459299	0.09345	T	0.004078	0.03492	T	-0.669511	0.00055	T	-0.722159	0.04692	T	.	.	.	0.376562	0.08996	T	0.012782279	0.00041	0.045038886	0.05971	0.012782279	0.00041	0.045038886	0.05971	-4.018	0.24683	T	.	.	0.082	0.09239	B	.;.;.;.	.;.;.;.	0.867870	0.12404	8.941	0.57532546601426848	0.05790	0.01711	0.05430	N	AEFDGBIJ	0.031578	0.03406	N	.	.	.	.	.	.	3.47151690921339E-4	0.06626	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.66	0.102	0.13827	1.604000	0.36415	0.971000	0.23058	-1.110000	0.01493	0.009000	0.18154	0.554000	0.25484	0.000000	0.00833	0.4529:0.2256:0.1258:0.1957	0.697	0.00843	970	0.06235	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	970.98	36	chr19	1529419	.	C	T	970.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=824;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=-4.750e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1059	20	0	1	0
chr19	1529822	1529822	C	T	exonic	PLK5	.	nonsynonymous SNV	PLK5:NM_001243079:exon11:c.C566T:p.P189L,	.	.	413	1100	9	0	0	9	0.00407424	0.0182	0.192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0093	0	0	0	0	0.03	0.0083	0.0006	0.0015524	240	154602	rs143475861	0.0063	0.0060	0.0064	0.0062	0.0079	0.0062	0.0061	0.0071	0.0068	0.0008	0.0078	0.0495	5.597e-05	0.0008	0.0079	0.0061	0.0077	0.0011	0.0050	0.0050	0.0052	0.0047	0.0070	0.0047	0.0046	0.0059	0.0055	0.0012	0	0.0070	0.0456	0	0.0008	0.0102	0.0060	0.0085	0.0006	.	.	.	.	.	.	0.054	0.22658	B	0.017	0.18140	B	.	.	.	.	0.999999	0.58761	D	1.725	0.44537	L	2.62	0.12988	T	.	.	.	0.071	0.10340	.	.	.	.	.	.	.	0.0034975111	0.00062	T	.	.	.	.	.	.	.	0.520749599713	0.51718	0.1981938709917924	0.19736	0.00211029390725	0.00180	0.353593289852	0.18450	T	0.047406	0.27715	T	-0.679522	0.00048	T	-0.744298	0.03712	T	.	.	.	0.254275	0.03911	T	0.03032282	0.02677	0.053915184	0.09172	0.03032282	0.02677	0.053915184	0.09171	-5.213	0.39376	T	.	.	0.071	0.06990	B	.;.;.;.	.;.;.;.	0.492982	0.08619	5.391	0.50454671985835731	0.04387	0.00845	0.03380	N	AEFDBI	0.049139	0.08460	N	.	.	.	.	.	.	8.72150788598135E-5	0.04703	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.94	-0.776	0.10430	-0.926000	0.04096	-0.091000	0.12058	-0.248000	0.07205	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1978:0.4577:0.0:0.3445	2.900	0.05353	970	0.06235	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	960.98	36	chr19	1529822	.	C	T	960.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.48;DP=810;ExcessHet=0.0000;FS=3.965;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.45;ReadPosRankSum=-1.750e-01;SOR=0.992	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1440	20	0	1	0
chr19	1555744	1555744	G	C	exonic	MEX3D	.	nonsynonymous SNV	MEX3D:NM_001174118:exon2:c.C1775G:p.S592W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.973	D	0.677	P	0.392	U	1.000	N	0	N	0.75	T	-1.049	T	0.083	T	0.145	-0.466	1.846	0.696	0.111	0.805	4.864	0.122	0.229218331913	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200047801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.581e-06	6.567e-06	1.286e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.006	0.61437	D	0.014	0.63109	D	0.973	0.57599	D	0.677	0.53365	P	0.392049	0.13242	U	0.641285	0.999753	0.20482	N	0	0.06538	N	0.75	0.50192	T	-2.05	0.47008	N	0.22	0.24634	-1.0490	0.14677	T	0.083	0.32642	T	10	0.23183018	0.40165	T	0.229218	0.88174	D	0.122	0.33800	0.42	0.46200	0.292423486923	0.28857	0.3269928552843577	0.32612	.	.	0.804985880852	0.82723	D	0.019299	0.17626	T	-0.224856	0.17336	T	-0.560766	0.16305	T	0.207538772880184	0.20824	T	0.523348	0.17107	T	0.06739785	0.14591	0.059465036	0.11164	0.06739785	0.14591	0.059465036	0.11163	-7.24	0.55768	T	.	.	0.219	0.44923	B	.;.	.;.	2.418848	0.31099	18.64	0.90615342813376942	0.19868	0.18973	0.20477	N	AEFBCI	0.111681	0.22103	N	-0.570331957311996	0.19850	1.042151	-0.700171049901826	0.16956	0.8994216	6.70111711240566E-5	0.04366	0.706298	0.61202	0	0.588066	0.40923	0	0.570548	0.19454	0	0.613276	0.41899	0	.	.	2.98	0.696	0.17237	0.407000	0.20770	0.000000	0.13247	-0.290000	0.06302	0.754000	0.29177	0.322000	0.24328	0.012000	0.09680	0.3286:0.0:0.6714:0.0	4.864	0.12962	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	461.98	35	chr19	1555744	.	G	C	461.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.51;DP=761;ExcessHet=0.0000;FS=3.453;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.68;MQRankSum=-7.700e-01;QD=15.93;ReadPosRankSum=-1.108e+00;SOR=0.434	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,995	20	0	1	0
chr19	1578439	1578439	C	A	exonic	MBD3	.	nonsynonymous SNV	MBD3:NM_001281453:exon6:c.G777T:p.E259D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.0	B	0.003	B	0.001	D	0.966	N	0	N	-5.02	D	-0.058	T	0.727	D	0.058	2.058	12.84	2.05	1.950	-0.611	1.875	0.310	0.294272754713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.876e-07	6.84e-07	0	1.381e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.341	0.18340	T	0.0	0.02946	B	0.003	0.08700	B	0.000956	0.40932	D	0.245630	0.966067	0.25910	N	2.005	0.54552	M	0.84	0.98562	T	.	.	.	0.193	0.21449	-0.0578	0.81040	T	0.727	0.90655	D	10	0.07006794	0.10143	T	0.294273	0.90669	D	0.310	0.63162	0.058	0.00182	0.382940591053	0.37911	0.41470816162115703	0.41386	0.526060352726	0.50237	0.459673076868	0.33265	T	0.008939	0.36806	T	-0.0230464	0.48418	T	-0.270881	0.47732	T	0.154359057545662	0.17445	T	0.734627	0.35069	T	0.08517232	0.19746	0.059524108	0.11185	0.08517232	0.19746	0.059524108	0.11184	-3.644	0.19717	T	.	.	0.063	0.02399	B	.;.;.	.;.;.	0.390111	0.07619	4.280	0.98391161535795102	0.40957	0.30401	0.24073	N	AEFBHCI	0.226058	0.35006	N	-0.861491167935306	0.11768	0.5697588	-0.801254817140294	0.14466	0.755938	0.00471501139518959	0.10684	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.32	2.05	0.25860	-0.379000	0.07494	-0.672000	0.07929	0.444000	0.21144	0.122000	0.23210	0.003000	0.18671	0.131000	0.19607	0.3222:0.4091:0.1559:0.1128	1.875	0.03021	970	0.06235	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	772.98	34	chr19	1578439	.	C	A	772.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.205e+00;DP=770;ExcessHet=0.0000;FS=0.909;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.20;ReadPosRankSum=0.583;SOR=0.658	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1287	20	0	1	0
chr19	1622125	1622125	G	A	exonic	TCF3	.	nonsynonymous SNV	TCF3:NM_001136139:exon10:c.C751T:p.P251S	Agammaglobulinemia 8, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.996	D	0.906	P	0.313	N	1.000	N	1.445	L	0.92	T	-0.924	T	0.145	T	0.435	0.577	7.115	-0.744	-0.035	-0.143	10.802	0.106	0.0064243823886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.918e-07	2.736e-06	1.374e-06	0	1.19e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.19e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.19927	T	0.126	0.35330	T	0.657	0.43786	P	0.197	0.43123	B	0.313241	0.14397	N	0.673920	1	0.08975	N	1.79	0.46772	L	0.92	0.44461	T	-1.72	0.40850	N	0.257	0.33687	-0.9245	0.44929	T	0.145	0.46914	T	10	0.11969426	0.22656	T	0.006424	0.16899	T	0.106	0.30130	0.158	0.06178	0.416328079214	0.41249	0.2695647496551251	0.26869	0.0590315638115	0.06553	0.492661207914	0.37808	T	0.378093	0.74114	T	-0.160972	0.26612	T	-0.469001	0.25623	T	0.300578236579895	0.25028	T	0.905309	0.66640	D	0.039250337	0.05385	0.04033735	0.04336	0.039250337	0.05385	0.04033735	0.04335	-3.003	0.14272	T	.	.	0.056	0.00693	B	.;.;.;.;.;.	.;.;.;.;.;.	0.297331	0.06730	3.243	0.91223097330368952	0.20480	0.21049	0.21263	N	AEFDBCI	0.119456	0.23315	N	-0.901176730309306	0.10814	0.5186848	-1.0891207009001	0.07913	0.3868823	0.0117418506128431	0.12230	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	2.91	-0.744	0.10542	-0.069000	0.11501	0.698000	0.20823	-0.337000	0.05733	0.000000	0.06391	0.216000	0.23679	0.005000	0.06747	0.0:0.627:0.373:0.0	10.802	0.45697	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	720.98	40	chr19	1622125	.	G	A	720.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.170e-01;DP=836;ExcessHet=0.0000;FS=3.466;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=0.609;SOR=0.926	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr19	1775438	1775438	A	C	exonic	ONECUT3	.	nonsynonymous SNV	ONECUT3:NM_001080488:exon2:c.A1478C:p.K493T,	.	.	338	1181	3	0	0	3	0.0012685	.	.	2679474	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.023	B	0.012	B	0.000	U	0.976	D	1.735	L	0.55	T	-0.909	T	0.133	T	0.257	2.120	13.05	2.85	0.927	3.432	8.801	0.080	0.793201225396	.	.	0.0007	0	0	0	0	0	0	0.0012	5.82e-05	9	154602	rs768785995	0.0001	0.0001	8.955e-05	0.0001	0.0014	9.787e-05	9.224e-05	0.0012	0.0011	0	0.0002	4.561e-05	0	2.167e-05	0.0005	2.551e-05	0.0003	0.0014	5.274e-05	5.255e-05	0	0.0001	0.0008	2.564e-05	1.835e-05	0.0003	0.0002	0	0	6.545e-05	0	0	0	0	2.949e-05	0.0005	0.0008	0.002	0.72154	D	0.005	0.72224	D	0.023	0.18885	B	0.012	0.16012	B	0.000002	0.62929	U	0.000000	0.976209	0.39255	D	1.935	0.51832	L	0.55	0.54728	T	-3.17	0.64363	D	0.166	0.17553	-0.9089	0.46989	T	0.133	0.44622	T	10	0.04985267	0.04634	T	0.793201	0.98378	D	0.080	0.23350	0.253	0.19223	0.440394187108	0.43661	.	.	.	.	0.906840026379	0.97162	D	0.027266	0.20004	T	-0.394115	0.02530	T	-0.379428	0.35789	T	0.179489350327411	0.19203	T	0.390061	0.09662	T	0.5458523	0.69724	0.50421035	0.71342	0.5458523	0.69725	0.50421035	0.71342	-11.355	0.81569	D	.	.	0.856	0.80112	P	.	.	3.815295	0.55062	23.6	0.99246970969337067	0.56727	0.85195	0.44307	D	AEFDGBI	0.162971	0.28920	N	-0.293624023171245	0.29394	1.629628	-0.242590276681425	0.30028	1.687196	0.997896996105775	0.36162	0.59774	0.34471	0	0.59043	0.45803	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	2.85	2.85	0.32333	3.432000	0.52590	7.298000	0.58079	0.608000	0.46601	1.000000	0.71638	1.000000	0.68203	0.696000	0.34018	1.0:0.0:0.0:0.0	8.801	0.34071	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	306.98	26	chr19	1775438	.	A	C	306.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.573e+00;DP=512;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.05;ReadPosRankSum=-8.160e-01;SOR=0.387	GT:AD:DP:GQ:PL	0/0:17,0:17:39:0,39,585	20	0	1	0
chr19	1787158	1787158	A	T	exonic	ATP8B3	.	nonsynonymous SNV	ATP8B3:NM_001178002:exon25:c.T2987A:p.L996H	.	.	428	1072	22	0	0	22	0.010157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.879	P	0.000	D	1.000	D	3.395	M	-2.62	D	0.959	D	0.858	D	0.744	2.877	15.59	4.25	1.685	8.797	12.823	0.791	.	0.0007	0.00259585	0.0030	0	0.0010	0	0	0.0016	0.0108	0.0136	0.0020181	312	154602	rs200106210	0.0015	0.0015	0.0012	0.0018	0.0113	0.0014	0.0014	0.0100	0.0098	8.972e-05	0.0007	0.0128	2.523e-05	1.886e-05	0.0113	0.0006	0.0027	0.0106	0.0011	0.0011	0.0010	0.0011	0.0100	0.0009	0.0009	0.0077	0.0069	2.406e-05	0	0.0003	0.0124	0	0	0.0102	0.0009	0.0009	0.0100	0.001	0.78490	D	0.021	0.58089	D	0.998	0.73220	D	0.816	0.58888	P	0.000065	0.52346	D	0.078047	0.980305	0.39652	D	3.67	0.94359	H	-2.62	0.90017	D	-5.45	0.85468	D	0.814	0.80964	0.959	0.96523	D	0.858	0.95258	D	10	0.019571215	0.00439	T	.	.	.	0.791	0.93108	.	.	0.894014465091	0.89296	0.53269945904347	0.53194	0.478852830938	0.46947	0.497497439384	0.38479	T	0.414104	0.76776	T	-0.0160005	0.49420	T	0.213635	0.83852	D	0.127613595384541	0.15159	T	0.715628	0.32820	T	0.72139674	0.79239	0.6979147	0.82208	0.77133715	0.82130	0.7310875	0.84111	-13.241	0.90331	D	.	.	0.541	0.66394	A	.;.	.;.	4.184609	0.63024	24.5	0.98070360785366339	0.38023	0.97819	0.77366	D	AEFGBHCI	0.911787	0.87154	D	0.537951208265048	0.69350	5.34464	0.353545343044294	0.58720	4.044432	0.99999724342468	0.74766	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.25	4.25	0.49658	8.782000	0.91448	10.816000	0.83832	0.750000	0.87069	1.000000	0.71638	0.996000	0.32793	0.074000	0.16894	1.0:0.0:0.0:0.0	12.823	0.57087	988	0.01987	P-type ATPase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	721.98	34	chr19	1787158	.	A	T	721.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.220e-01;DP=746;ExcessHet=0.0000;FS=3.515;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=8.000e-03;SOR=0.626	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr19	1788976	1788976	A	G	exonic	ATP8B3	.	nonsynonymous SNV	ATP8B3:NM_001178002:exon24:c.T2879C:p.L960P	.	.	406	1115	1	0	0	1	0.000448229	.	.	2366972	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.998	D	0.909	D	0.000	D	1.000	D	3.22	M	-2.58	D	0.880	D	0.832	D	0.865	4.296	22.5	4.89	1.845	9.209	13.687	0.946	0.671069959694	7.7e-05	.	0.0001	0	0.0003	0	0	8.639e-05	0	0.0005	7.76e-05	12	154602	rs199969503	7.065e-05	7.046e-05	6.548e-05	7.587e-05	0.0005	5.929e-05	5.537e-05	0.0001	7.544e-05	0	0.0001	0	0	0	0.0005	7.383e-05	6.636e-05	9.356e-05	3.286e-05	3.283e-05	2.57e-05	4.035e-05	0.0002	1.261e-05	7.98e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0	0.0002	0.0	0.91255	D	0.001	0.83351	D	0.979	0.59044	D	0.733	0.55393	P	0.000006	0.62929	D	0.000000	1	0.81001	D	3.55	0.93268	H	-2.58	0.89757	D	-5.79	0.88065	D	0.928	0.94786	0.880	0.95410	D	0.832	0.94383	D	10	0.9754473	0.97294	D	0.67107	0.97256	D	0.946	0.98921	.	.	0.937676003806	0.93702	0.8667276466434082	0.86637	0.536669056901	0.50994	0.693215966225	0.66168	T	0.435168	0.78200	T	0.248987	0.78507	D	0.412025	0.92497	D	0.957715272903442	0.65082	D	0.874313	0.62461	D	0.968352	0.98105	0.96162593	0.99058	0.968352	0.98105	0.96162593	0.99059	-13.531	0.91432	D	.	.	0.932	0.85185	P	.;.	.;.	5.307507	0.89104	29.9	0.99902277430695008	0.97350	0.99859	0.99866	D	ALL	0.974845	0.99584	D	0.797267556377505	0.85935	8.72707	0.72447372112397	0.84235	8.236423	0.99999999999773	0.74766	0.72623	0.87236	0	0.858003	0.99906	0	0.594344	0.31042	0	0.296957	0.05502	2	.	.	4.89	4.89	0.63387	9.196000	0.94104	11.200000	0.88996	0.724000	0.85401	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	1.0:0.0:0.0:0.0	13.687	0.61999	982	0.03397	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1425.98	33	chr19	1788976	.	A	G	1425.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.900e-02;DP=801;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.55;ReadPosRankSum=3.47;SOR=0.785	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1230	20	0	1	0
chr19	1805931	1805931	C	G	exonic	ATP8B3	.	nonsynonymous SNV	ATP8B3:NM_001178002:exon9:c.G619C:p.E207Q	.	.	429	1090	2	0	1	3	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	0.725	D	2.79	M	-1.29	T	0.765	D	0.686	D	0.299	3.771	19.14	3.75	1.904	3.711	14.679	0.468	0.0504869883364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	0.72454	0.33653	D	3.605	0.93784	H	-1.29	0.79475	T	-2.56	0.60188	D	0.561	0.71143	0.765	0.93982	D	0.686	0.89165	D	10	0.66654754	0.70461	D	0.050487	0.64262	D	0.468	0.76289	0.387	0.40788	0.891256671117	0.89018	0.6913434148138818	0.69074	0.440762058902	0.44078	0.511945188046	0.40494	T	0.686729	0.90854	D	0.0571413	0.59253	T	-0.155697	0.58736	T	0.994954526424408	0.86582	D	0.957004	0.87589	D	0.8680031	0.88704	0.67476267	0.80905	0.8680031	0.88706	0.67476267	0.80906	-10.476	0.76709	D	.	.	0.416	0.62869	A	.;.;.	.;.;.	4.847063	0.79187	27.1	0.99807380318874994	0.89174	0.97687	0.76416	D	AEFBI	0.509873	0.53916	D	0.609865490429506	0.73797	6.025351	0.503700896441069	0.68238	5.19267	0.0252085331082764	0.13633	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	3.75	3.75	0.42236	3.950000	0.56384	7.432000	0.58801	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	14.679	0.68613	982	0.03397	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1557.98	37	chr19	1805931	.	C	G	1557.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.31;DP=842;ExcessHet=0.0000;FS=2.406;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.36;ReadPosRankSum=-5.860e-01;SOR=0.926	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1347	20	0	1	0
chr19	1818538	1818538	C	T	exonic	REXO1	.	nonsynonymous SNV	REXO1:NM_020695:exon10:c.G2960A:p.R987H,	.	.	.	.	.	.	.	.	.	.	.	3316054	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	0.293	B	0.034	B	0.001	N	0.852	N	0.695	N	2.69	T	-1.066	T	0.019	T	0.255	2.059	12.84	3.6	2.419	0.204	8.580	0.019	0.021962320781	.	.	5.05e-05	0.0004	0	0	0	3.643e-05	0	0	3.23e-05	5	154602	rs748224350	1.233e-05	1.436e-05	9.542e-06	1.515e-05	8.968e-05	7.71e-06	6.36e-06	2.376e-05	1.258e-05	8.968e-05	6.729e-05	0	0	0	0	6.297e-06	3.316e-05	3.486e-05	9.197e-05	9.193e-05	8.989e-05	9.414e-05	0.0003	5.526e-05	4.364e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	1.47e-05	0	0.0002	0.197	0.20607	T	0.173	0.30143	T	0.293	0.32367	B	0.034	0.22546	B	0.001163	0.39978	N	0.272306	0.851644	0.28487	N	1.665	0.42610	L	2.69	0.12268	T	-1.7	0.40468	N	0.346	0.38746	-1.0656	0.10409	T	0.019	0.08126	T	10	0.11504695	0.21663	T	0.021962	0.44796	T	0.019	0.03383	.	.	0.143184338766	0.13958	0.346943627692041	0.34608	0.152168020446	0.17166	0.41922467947	0.27730	T	0.029688	0.21214	T	-0.417801	0.01767	T	-0.558483	0.16519	T	0.12398611754179	0.14815	T	0.860814	0.55431	D	0.057932038	0.11592	0.048679885	0.07283	0.057932038	0.11592	0.048679885	0.07282	-6.653	0.51456	T	.	.	0.073	0.04558	B	.;.	.;.	3.802827	0.54800	23.5	0.99754068120441264	0.84537	0.64603	0.32461	D	AEFDGBI	0.139361	0.26093	N	-0.268030281571043	0.30390	1.694083	-0.135428441150509	0.33973	1.949142	0.00195003503165866	0.09028	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.69	3.6	0.40374	0.408000	0.20787	2.602000	0.33527	0.596000	0.33519	0.997000	0.40164	1.000000	0.68203	0.127000	0.19450	0.0:0.814:0.0:0.186	8.580	0.32781	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	343.98	35	chr19	1818538	.	C	T	343.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=751;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.19;ReadPosRankSum=1.59;SOR=0.853	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,968	20	0	1	0
chr19	1828320	1828320	C	T	exonic	REXO1	.	nonsynonymous SNV	REXO1:NM_020695:exon2:c.G469A:p.G157S,	.	.	417	1102	3	0	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.719	P	0.068	B	0.179	N	1.000	N	0.51	N	2.83	T	-0.965	T	0.012	T	0.114	-0.463	1.858	-4.06	-0.599	-0.167	10.979	0.012	.	0.0019	0.00159744	0.0026	0.0008	0.0070	0	0.0002	0.0028	0.0127	0.0015	0.0022121	342	154602	rs200585798	0.0027	0.0027	0.0027	0.0026	0.0060	0.0026	0.0026	0.0054	0.0052	0.0008	0.0060	0.0006	0	0.0003	0.0049	0.0029	0.0031	0.0016	0.0021	0.0021	0.0022	0.0019	0.0059	0.0019	0.0018	0.0049	0.0045	0.0007	0	0.0059	0.0003	0	0.0002	0.0068	0.0026	0.0028	0.0012	0.119	0.28026	T	0.474	0.12107	T	0.004	0.12183	B	0.002	0.06944	B	0.178676	0.17164	N	0.573647	0.999997	0.08975	N	-0.27	0.03760	N	2.83	0.10771	T	-0.35	0.12847	N	0.065	0.03726	-0.9652	0.38171	T	0.012	0.04463	T	10	0.004287094	0.00086	T	.	.	.	0.012	0.01476	.	.	0.168254554758	0.16434	0.43282251149902035	0.43199	0.094583282972	0.10679	0.368344157934	0.20594	T	0.010101	0.09146	T	-0.670953	0.00054	T	-0.734911	0.04108	T	0.0071254534206293	0.00081	T	0.50155	0.15709	T	0.03487965	0.03998	0.040064283	0.04243	0.03487965	0.03998	0.040064283	0.04243	-3.278	0.13455	T	.	.	0.068	0.02894	B	.	.	-0.559093	0.01687	0.122	0.69617167218483667	0.09029	0.02768	0.07465	N	AEFDBI	0.076355	0.15359	N	-1.41777649389106	0.02483	0.1096899	-1.51994663505716	0.02191	0.1003945	0.625114301280435	0.21919	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.73	-4.06	0.03718	-0.197000	0.09519	-1.803000	0.04697	-1.904000	0.00521	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2014:0.0:0.7986	10.979	0.46694	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	563.98	36	chr19	1828320	.	C	T	563.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.81;DP=762;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=1.13;SOR=0.631	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr19	1978928	1978928	G	T	exonic	CSNK1G2	.	nonsynonymous SNV	CSNK1G2:NM_001319:exon6:c.G517T:p.V173L,	.	.	399	1113	9	1	0	11	0.0049173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.002	B	0.014	B	0.000	D	0.826	D	-0.32	N	0.09	T	-1.034	T	0.058	T	0.342	2.576	14.57	3.39	0.831	3.680	7.578	0.065	0.0398336805826	0.0033	0.00159744	0.0037	0.0007	0.0006	0.0004	0.0015	0.0051	0.0059	0.0045	0.0033441	517	154602	rs144771760	0.0059	0.0059	0.0061	0.0058	0.0071	0.0058	0.0058	0.0069	0.0069	0.0007	0.0004	0.0010	0.0002	0.0013	0.0023	0.0071	0.0045	0.0041	0.0033	0.0033	0.0039	0.0028	0.0057	0.0031	0.0030	0.0052	0.0050	0.0010	0.0538	0.0003	0	0.0002	0.0007	0	0.0057	0.0019	0.0027	0.098	0.30800	T	0.074	0.42976	T	0.002	0.09854	B	0.014	0.16862	B	0.000001	0.84330	D	0.000000	0.826193	0.34849	D	0.115	0.08564	N	0.09	0.61443	T	-0.82	0.22508	N	0.454	0.49146	-1.0345	0.19014	T	0.058	0.24167	T	10	0.012103677	0.00261	T	0.039834	0.59037	D	0.065	0.18881	0.504	0.59770	0.36254010156	0.35860	0.7801115442774701	0.77962	1.22569907109	0.81205	0.71203994751	0.68888	T	0.098641	0.40266	T	-0.390315	0.02678	T	-0.33138	0.41316	T	0.0226521114524081	0.00983	T	0.89491	0.63503	D	0.39430714	0.60336	0.18778533	0.42031	0.39430714	0.60336	0.18778533	0.42030	-10.463	0.76634	D	.	.	0.438	0.61617	A	.	.	3.347830	0.46161	22.3	0.98894571893761685	0.48073	0.77747	0.38263	D	AEFDGBCI	0.378070	0.46160	N	-0.347379808711691	0.27368	1.50102	-0.156019050286871	0.33178	1.895152	0.0386259834366868	0.14356	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.45	3.39	0.37919	3.778000	0.55078	7.065000	0.57419	0.570000	0.28895	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1828:0.6285:0.1887	7.578	0.27115	982	0.03397	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2530.98	36	chr19	1978928	.	G	T	2530.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.300e-01;DP=953;ExcessHet=0.0000;FS=3.378;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.61;ReadPosRankSum=2.21;SOR=0.473	GT:AD:DP:GQ:PL	0/1:83,103:186:99:2545,0,1916	20	0	1	0
chr19	2015551	2015553	GGC	-	exonic	BTBD2	.	nonframeshift deletion	BTBD2:NM_017797:exon1:c.151_153del:p.A54del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	459.95	24	chr19	2015541	.	GGGCGGCGGCGGC	GGGCGGCGGC,G	459.95	.	AC=2,2;AF=0.500,0.500;AN=4;DP=24;ExcessHet=0.0000;FS=0.000;MLEAC=8,4;MLEAF=1.00,1.00;MQ=60.00;QD=27.94;SOR=1.085	GT:AD:DP:GQ:PL	./.:1,0,0:1:0:0,0,0,0,0,0	0	1	0	19
chr19	2076975	2076975	T	G	exonic	MOB3A	.	nonsynonymous SNV	MOB3A:NM_130807:exon4:c.A460C:p.K154Q,	.	.	437	1073	10	2	0	14	0.00648148	.	.	2815126	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.42	T	0.345	B	0.261	B	0.000	D	1.000	D	1.82	L	.	.	-0.931	T	0.136	T	0.444	2.084	12.93	3.58	1.505	7.523	11.112	0.187	0.00941151321683	0.0065	0.00139776	0.0042	0.0008	0.0005	0	0.0010	0.0062	0.0047	0.0045	0.0044437	687	154602	rs141042584	0.0073	0.0073	0.0074	0.0071	0.0087	0.0071	0.0071	0.0085	0.0085	0.0011	0.0005	0.0030	7.557e-05	0.0009	0.0024	0.0087	0.0054	0.0049	0.0043	0.0043	0.0049	0.0037	0.0073	0.0040	0.0039	0.0067	0.0065	0.0012	0.0549	0.0012	0.0032	0.0002	0.0008	0	0.0073	0.0038	0.0031	0.286	0.15201	T	0.143	0.33219	T	0.345	0.33546	B	0.261	0.39516	B	0.000240	0.47286	D	0.214672	1	0.81001	D	1.65	0.42232	L	.	.	.	-2.2	0.49519	N	0.783	0.77978	-0.9314	0.43933	T	0.136	0.45126	T	9	0.014317423	0.00301	T	0.009412	0.24670	T	0.187	0.46274	.	.	0.260735089382	0.25697	0.5406461721908666	0.53989	0.145953163307	0.16482	0.583784043789	0.50618	T	0.066791	0.33036	T	-0.309502	0.07791	T	-0.206967	0.53985	T	0.0575138201066219	0.06771	T	0.949605	0.80601	D	0.2988249	0.52799	0.14128055	0.33651	0.2988249	0.52799	0.14128055	0.33650	-11.789	0.83807	D	.	.	0.719	0.73780	P	.;.	.;.	4.312663	0.65933	24.9	0.96096187549802137	0.28700	0.95487	0.64916	D	AEFDBHCIJ	0.932686	0.92341	D	-0.0108721681130964	0.41361	2.472715	0.0361971156414098	0.41409	2.487322	0.999999999993495	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.58	3.58	0.40133	7.662000	0.82787	7.496000	0.59428	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	11.112	0.47459	964	0.07719	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	926.98	33	chr19	2076975	.	T	G	926.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.230e-01;DP=785;ExcessHet=0.0000;FS=3.891;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.46;ReadPosRankSum=1.75;SOR=0.370	GT:AD:DP:GQ:PL	0/1:57,41:98:99:941,0,1463	20	0	1	0
chr19	2078473	2078473	C	T	exonic	MOB3A	.	nonsynonymous SNV	MOB3A:NM_130807:exon3:c.G88A:p.E30K,	.	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.219	B	0.024	B	0.000	D	1.000	D	1.9	L	.	.	-0.747	T	0.207	T	0.873	2.561	14.52	4.26	2.200	7.454	15.430	0.462	0.00771005563525	.	0.000199681	5.811e-05	0	0	0.0001	0	1.509e-05	0	0.0003	5.17e-05	8	154602	rs45509008	2.536e-05	2.531e-05	9.54e-06	4.136e-05	0.0003	1.871e-05	1.634e-05	0.0002	0.0002	0	2.24e-05	0	2.527e-05	0	0	5.406e-06	4.979e-05	0.0003	1.313e-05	1.312e-05	1.285e-05	1.342e-05	2.405e-05	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0	0.075	0.34444	T	0.131	0.37730	T	0.219	0.30243	B	0.024	0.20255	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.265	0.31966	L	.	.	.	-2.03	0.46673	N	0.881	0.88137	-0.7466	0.58113	T	0.207	0.56526	T	9	0.3395902	0.51043	T	0.00771	0.20457	T	0.462	0.75889	.	.	0.343560092441	0.33966	0.6615578791207789	0.66092	0.34292255472	0.36221	0.796504974365	0.81431	T	0.182617	0.53469	T	0.14917	0.69190	D	0.255931	0.85899	D	0.140993602548576	0.16361	T	0.988701	0.96153	D	0.28251502	0.51288	0.24613102	0.50116	0.28251502	0.51288	0.24613102	0.50115	-12.181	0.85722	D	.	.	0.814	0.78275	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.705413	0.75534	26.3	0.99793454807235804	0.87928	0.96174	0.67873	D	AEFBHCI	0.891211	0.82698	D	-0.00275961187068221	0.41732	2.501379	0.0510665823784125	0.42122	2.542421	0.999999999999988	0.74766	0.706548	0.73137	0	0.685571	0.66316	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.26	4.26	0.49832	7.707000	0.83595	7.348000	0.58281	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	15.430	0.74813	964	0.07719	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1581.98	119	chr19	2078473	.	C	T	1581.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=1774;ExcessHet=0.0000;FS=1.446;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=0.893;SOR=0.604	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1245	20	0	1	0
chr19	2251248	2251248	A	G	exonic	AMH	.	nonsynonymous SNV	AMH:NM_000479:exon5:c.A974G:p.Q325R,	Persistent Mullerian duct syndrome, type I, Autosomal recessive	.	5	1488	27	2	0	31	0.0103093	.	.	377366	not_specified|not_provided|Persistent_Mullerian_duct_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009857,MedGen:C1849930,OMIM:261550,Orphanet:2856	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.78	T	0.948	P	0.507	P	0.002	U	0.999	N	1.87	L	-1.55	D	-0.661	T	0.264	T	0.162	0.628	7.378	4.11	1.514	4.544	7.503	0.425	.	.	0.00479233	0.0084	0.0054	0.0222	0	.	0.0284	0.0086	0.0014	0.0010414	161	154602	rs140765565	0.0025	0.0025	0.0025	0.0026	0.0245	0.0025	0.0024	0.0218	0.0213	0.0233	0.0030	0.0435	0	2.985e-05	0.0245	0.0010	0.0071	0.0013	0.0091	0.0091	0.0094	0.0088	0.0244	0.0087	0.0086	0.0231	0.0226	0.0244	0	0.0051	0.0430	0	0.0002	0.0347	0.0014	0.0147	0.0023	0.83	0.02884	T	0.054	0.47097	T	0.948	0.53620	P	0.507	0.47859	P	0.002188	0.37053	U	0.230895	0.99918	0.21543	N	2.25	0.63811	M	-1.55	0.81727	D	-1.55	0.37566	N	0.698	0.70263	-0.6606	0.62249	T	0.264	0.63512	T	10	0.0093874335	0.00212	T	.	.	.	0.425	0.73299	.	.	0.844910197176	0.84342	0.29810499824377995	0.29723	1.82600149433	0.92012	0.874897897243	0.93261	D	0.485823	0.81257	T	-0.370304	0.03578	T	-0.285095	0.46281	T	0.0270123198030899	0.01546	T	0.482752	0.14626	T	0.12263969	0.28815	0.09077527	0.21305	0.12263969	0.28815	0.09077527	0.21304	-2.308	0.04599	T	.	.	0.150	0.33179	B	.	.	3.246013	0.44328	21.9	0.65532530357541507	0.07799	0.63927	0.32243	D	AEFDBCI	0.409307	0.48064	N	0.099763491502891	0.46449	2.885275	0.0820088008310457	0.43643	2.661927	0.997868075121286	0.36124	0.650006	0.45971	0	0.550933	0.16991	0	0.606735	0.37207	0	0.620976	0.48614	0	.	.	4.11	4.11	0.47350	3.649000	0.54157	7.544000	0.60141	0.547000	0.25779	1.000000	0.71638	1.000000	0.68203	0.522000	0.29520	0.8952:0.0:0.1048:0.0	7.503	0.26699	982	0.03397	Anti-Mullerian hormone, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.04762	458.11	39	chr19	2251248	.	A	G	458.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-8.000e-01;DP=693;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.04;ReadPosRankSum=-9.600e-01;SOR=0.708	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1118	19	0	2	0
chr19	2252627	2252627	C	T	exonic	JSRP1	.	nonsynonymous SNV	JSRP1:NM_144616:exon7:c.G698A:p.R233Q,	.	.	406	1115	1	0	0	1	0.000448229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.036	B	0.011	B	0.241	N	1.000	N	0.805	L	2.26	T	-1.006	T	0.007	T	0.01	1.047	9.274	-6.14	-0.504	-1.563	0.648	0.030	.	0.0098	0.00858626	0.0029	0.0339	0.0011	0	0	0.0001	0.0034	0	0.0027425	424	154602	rs35356610	0.0010	0.0010	0.0011	0.0009	0.0358	0.0010	0.0009	0.0341	0.0334	0.0358	0.0012	0	2.519e-05	0	0.0038	6.745e-05	0.0019	1.159e-05	0.0087	0.0088	0.0091	0.0084	0.0304	0.0084	0.0082	0.0290	0.0284	0.0304	0	0.0025	0	0	0	0	0.0002	0.0085	0	0.064	0.36509	T	0.536	0.09897	T	0.036	0.20732	B	0.011	0.15521	B	0.240917	0.03582	N	1.616360	1	0.08975	N	0.46	0.12951	N	2.26	0.17596	T	-0.76	0.21215	N	0.033	0.00882	-1.0057	0.28247	T	0.007	0.02598	T	10	0.00228253	0.00033	T	.	.	.	0.030	0.07022	.	.	0.166414681773	0.16258	0.028311002177944185	0.02781	0.777335084149	0.65105	0.315681219101	0.12767	T	0.038492	0.24860	T	-0.771028	0.00013	T	-0.855237	0.00896	T	0.00157285857285857	0.00016	T	0.523848	0.17156	T	0.025876632	0.01576	0.05834571	0.10766	0.025876632	0.01576	0.05834571	0.10765	-4.957	0.36370	T	.	.	0.130	0.27880	B	.	.	0.630882	0.09991	6.747	0.91045953654635314	0.20297	0.01986	0.06001	N	AEFDBCI	0.082559	0.16718	N	-1.72032196189537	0.00772	0.03335276	-1.80001690312726	0.00759	0.03384212	0.999995772069212	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	4.17	-6.14	0.01931	-2.707000	0.00891	-1.600000	0.05086	-1.295000	0.01250	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2722:0.2352:0.2781:0.2146	0.648	0.00770	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	970.98	34	chr19	2252627	.	C	T	970.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.19;DP=796;ExcessHet=0.0000;FS=4.017;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.67;ReadPosRankSum=-1.111e+00;SOR=1.049	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1284	20	0	1	0
chr19	2253656	2253656	C	T	exonic	JSRP1	.	nonsynonymous SNV	JSRP1:NM_144616:exon5:c.G400A:p.V134M,	.	.	202	1319	1	0	0	1	0.000378931	.	.	3448189	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.992	D	0.935	D	0.312	N	1.000	N	0.975	L	0.28	T	-0.760	T	0.229	T	0.317	3.122	16.43	-1.74	-0.422	-0.106	12.009	0.142	0.025671712519	0.0002	0.000199681	0.0004	0	0	0	0	0.0003	0	0.0005	7.12e-05	11	154602	rs201363415	7.822e-05	8.072e-05	5.684e-05	0.0001	0.0018	6.595e-05	6.148e-05	0.0009	0.0007	3.608e-05	0.0001	0	0	2.876e-05	0.0018	3.562e-05	0.0002	0.0006	6.563e-05	6.561e-05	5.138e-05	8.053e-05	0.0010	3.513e-05	2.613e-05	0.0004	0.0003	0	0	0.0001	0	0	0	0	4.41e-05	0	0.0010	0.009	0.57480	D	0.028	0.54934	D	0.992	0.64738	D	0.935	0.67021	D	0.312152	0.14415	N	0.550510	0.999993	0.08975	N	1.04	0.26193	L	0.28	0.59037	T	-1.29	0.32387	N	0.416	0.45615	-0.7596	0.57427	T	0.229	0.59409	T	10	0.07699898	0.12097	T	0.025672	0.48627	D	0.142	0.37995	.	.	0.427139414373	0.42328	0.12477528081686912	0.12403	0.209316482217	0.23399	0.798585832119	0.81748	T	0.165719	0.51168	T	-0.369256	0.03631	T	-0.402888	0.33048	T	0.115145356471064	0.13948	T	0.717528	0.33029	T	0.114039615	0.26927	0.1966573	0.43407	0.114039615	0.26927	0.1966573	0.43406	-7.724	0.59174	D	.	.	0.572	0.67723	P	.	.	3.137184	0.42413	21.5	0.9967782972592808	0.79043	0.09228	0.15026	N	AEFDBHCI	0.120559	0.23480	N	-0.273327215180464	0.30181	1.680545	-0.446212899269172	0.23656	1.291224	0.999875867388866	0.44625	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	5.16	-1.74	0.07622	-0.390000	0.07392	-0.057000	0.12472	0.524000	0.24156	0.011000	0.18532	0.001000	0.17328	0.959000	0.51448	0.1269:0.3789:0.4942:0.0	12.009	0.52571	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	4483.08	43	chr19	2253656	.	C	T	4483.08	.	AC=2;AF=0.048;AN=42;DP=962;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.20;SOR=0.958	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1114	20	1	0	0
chr19	2290747	2290747	G	T	exonic	LINGO3	.	nonsynonymous SNV	LINGO3:NM_001101391:exon2:c.C1030A:p.L344I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	1.0	D	.	.	1.000	D	3	M	-2.12	D	0.649	D	0.785	D	0.472	3.971	20.3	4.38	1.983	6.420	9.380	0.674	0.810432842709	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	6.569e-06	6.566e-06	0	1.345e-05	2.411e-05	0	0	.	.	2.411e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.037	0.51737	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	2.885	0.83555	M	-2.12	0.86283	D	.	.	.	0.78	0.77695	0.649	0.92532	D	0.785	0.92687	D	9	0.8723988	0.86512	D	0.810433	0.98522	D	.	.	0.647	0.78436	0.866806358766	0.86551	0.7383396726454348	0.73778	.	.	0.801933944225	0.82258	T	0.034533	0.23358	T	0.124472	0.66818	D	-0.0589811	0.66404	T	0.975328267238407	0.70885	D	0.943306	0.78595	D	0.47046146	0.65318	0.58483493	0.75926	0.47046146	0.65319	0.58483493	0.75926	-7.381	0.56771	T	.	.	0.405	0.59860	A	.	.	4.548720	0.71574	25.7	0.9958114596282277	0.73040	0.95562	0.65216	D	AEFDGBHCI	0.767856	0.70359	D	0.748382361128341	0.82800	7.852859	0.66235316049573	0.79535	7.102701	0.999999999963269	0.74766	0.59774	0.34471	0	0.484254	0.07192	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.38	4.38	0.52019	6.535000	0.73744	7.275000	0.58003	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1013:0.0:0.8987:0.0	9.380	0.37471	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1329.98	39	chr19	2290747	.	G	T	1329.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.797e+00;DP=1011;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=-5.800e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr19	2438531	2438531	G	T	exonic	LMNB2	.	nonsynonymous SNV	LMNB2:NM_032737:exon3:c.C402A:p.S134R,	.	.	412	1106	3	0	1	4	0.0013544	0.0002	0.038	1494202	Progressive_myoclonic_epilepsy_type_9|Lipodystrophy,_partial,_acquired,_susceptibility_to|not_provided	MONDO:MONDO:0014685,MedGen:C4225289,OMIM:616540,Orphanet:457265|MONDO:MONDO:0100476,MedGen:C3887501,OMIM:608709|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.001	B	0.012	B	0.000	D	0.999	D	0.04	N	.	.	-1.039	T	0.065	T	0.324	-0.106	3.483	3.3	0.798	0.697	11.393	0.043	.	.	.	3.534e-05	0	0	0	0	6.431e-05	0	0	4.53e-05	7	154602	rs148213507	1.649e-05	1.915e-05	1.776e-05	1.521e-05	0.0002	1.116e-05	9.38e-06	1.586e-05	9.32e-06	0	0	0	2.527e-05	0	0.0002	1.353e-05	4.998e-05	4.65e-05	6.571e-06	6.566e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.422e-05	0	0	0	0	0.001	0.78490	D	1.0	0.01155	T	.	.	.	.	.	.	0.000075	0.52346	D	0.215158	0.999128	0.46125	D	.	.	.	-2.26	0.87352	D	-2.74	0.58248	D	0.425	0.46462	-1.0391	0.17587	T	0.065	0.26983	T	9	0.20606998	0.36855	T	0.028083	0.50815	D	0.043	0.11576	.	.	0.546031525495	0.54257	0.060369722529905384	0.05976	0.691787299004	0.60617	0.485085368156	0.36758	T	0.385752	0.74707	T	-0.0814108	0.39486	T	-0.218806	0.52851	T	0.237863541346745	0.22320	T	0.675332	0.28377	T	0.07628878	0.17243	0.15875661	0.37059	0.07628878	0.17242	0.15875661	0.37058	-2.273	0.04410	T	.	.	0.466	0.62980	A	.	.	1.759169	0.22376	15.59	0.59937449830155853	0.06343	0.88525	0.48493	D	AEFDBCI	0.494679	0.53037	N	-0.660219454607966	0.17163	0.8808452	-0.470445420419375	0.22972	1.250447	0.0026118677573989	0.09575	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.38	3.3	0.36912	0.897000	0.28022	0.497000	0.18957	-0.106000	0.15538	0.955000	0.33325	0.581000	0.25622	0.651000	0.32720	0.0919:0.0:0.9081:0.0	11.393	0.49069	970	0.06235	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	920.98	34	chr19	2438531	.	G	T	920.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.505;DP=826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.96;ReadPosRankSum=-2.048e+00;SOR=0.745	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1447	20	0	1	0
chr19	2832366	2832366	C	G	exonic	ZNF554	.	nonsynonymous SNV	ZNF554:NM_001102651:exon4:c.C317G:p.T106S,	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.001	B	0.003	B	.	.	1.000	N	-0.695	N	3.27	T	-0.919	T	0.002	T	0.025	-0.487	1.761	-1.82	-0.049	0.083	0.781	0.025	.	0.0054	0.00539137	0.0014	0.0165	0.0004	0	0	4.504e-05	0	0	0.0013648	211	154602	rs148243128	0.0004	0.0004	0.0005	0.0004	0.0172	0.0004	0.0004	0.0160	0.0156	0.0172	0.0005	0	0	0	0.0007	3.597e-06	0.0007	3.479e-05	0.0045	0.0045	0.0047	0.0043	0.0159	0.0042	0.0041	0.0149	0.0145	0.0159	0	0.0008	0	0	0	0	2.94e-05	0.0038	0.0002	0.19	0.21144	T	0.877	0.39340	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	3.27	0.06602	T	-0.3	0.11913	N	0.081	0.07811	-0.9193	0.45648	T	0.002	0.00738	T	9	0.003809303	0.00071	T	.	.	.	0.025	0.05312	0.205	0.12076	0.225902525712	0.22197	0.042697243834866234	0.04214	0.126610729929	0.14268	0.274248719215	0.06703	T	5.39E-4	0.00207	T	-0.746814	0.00019	T	-0.831897	0.01229	T	0.0027088694562902	0.00028	T	0.284672	0.05031	T	0.036795393	0.04594	0.036250237	0.03033	0.036795393	0.04594	0.036250237	0.03033	-2.671	0.07062	T	.	.	0.134	0.28976	B	.;.	.;.	0.005576	0.04321	1.094	0.378250759857444	0.02515	0.01025	0.03849	N	AEFBI	0.031058	0.03244	N	-1.36289306186625	0.02993	0.1330303	-1.38292515316694	0.03434	0.160158	3.84881025990732E-4	0.06781	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	2.34	-1.82	0.07433	0.024000	0.13447	-1.907000	0.04517	0.377000	0.20376	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.2408:0.3591:0.2372:0.1629	0.781	0.00974	994	0.00715	Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1614.98	34	chr19	2832366	.	C	G	1614.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.619;DP=829;ExcessHet=0.0000;FS=2.127;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.37;ReadPosRankSum=-1.076e+00;SOR=0.510	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1117	20	0	1	0
chr19	2878012	2878012	T	C	exonic	ZNF556	.	nonsynonymous SNV	ZNF556:NM_001300843:exon4:c.T1051C:p.S351P	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.969	D	0.55	P	.	.	1.000	N	0	N	3.33	T	-0.968	T	0.009	T	0.355	1.157	9.710	1.94	0.740	3.673	3.947	0.125	0.00214032473222	0.0006	0.000599042	0.0001	0.0015	0	0	0	0	0	6.069e-05	0.0001423	22	154602	rs149449762	2.942e-05	2.941e-05	3.676e-05	2.2e-05	0.0010	2.217e-05	1.97e-05	0.0007	0.0006	0.0010	0.0001	0	0	0	0	0	6.624e-05	2.319e-05	0.0005	0.0005	0.0004	0.0005	0.0015	0.0004	0.0003	0.0012	0.0011	0.0015	0	0.0003	0	0	0	0	0	0.0009	0	0.008	0.58626	D	0.017	0.60337	D	0.969	0.56768	D	0.55	0.49239	P	.	.	.	.	1	0.08975	N	0	0.06538	N	3.36	0.06138	T	-2.28	0.50830	N	0.176	0.18920	-0.9677	0.37673	T	0.009	0.03011	T	9	0.014710277	0.00309	T	0.00214	0.03989	T	0.125	0.34456	.	.	0.107399877778	0.10242	0.02615009276306525	0.02566	0.0504010441882	0.05533	0.332336306572	0.15287	T	0.022185	0.17150	T	-0.518244	0.00450	T	-0.541825	0.18118	T	0.0485974954173552	0.05250	T	0.242976	0.03512	T	0.18196625	0.39392	0.18548612	0.41664	0.18196625	0.39392	0.18548612	0.41663	-5.966	0.45994	T	.	.	0.068	0.04436	B	.;.	.;.	1.684363	0.21463	15.21	0.97974900385540109	0.37283	0.00000	0.00017	N	AEFBHCI	0.167463	0.29413	N	-0.533616315945304	0.21001	1.11127	-0.697138072102192	0.17032	0.9037907	1.66501376467875E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.94	1.94	0.25058	2.890000	0.48308	-1.159000	0.06158	-0.370000	0.05448	0.727000	0.28892	0.000000	0.08366	0.003000	0.05239	0.3236:0.0:0.0:0.6763	3.947	0.08851	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2039.98	39	chr19	2878012	.	T	C	2039.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.137e+00;DP=920;ExcessHet=0.0000;FS=1.847;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=-2.310e-01;SOR=0.756	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	20	0	1	0
chr19	2916092	2916092	T	G	exonic	ZNF57	.	nonsynonymous SNV	ZNF57:NM_001319083:exon3:c.T49G:p.F17V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.994	D	0.908	P	.	.	1.000	N	-0.695	N	6.05	T	-0.945	T	0.013	T	0.297	-0.967	0.313	1.36	0.882	-0.620	4.920	0.071	0.000965720772181	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.482	0.18071	T	0.994	0.66517	D	0.908	0.64494	P	.	.	.	.	1	0.08975	N	-0.4	0.02994	N	3.57	0.05440	T	-1.71	0.40660	N	0.143	0.17002	-0.9451	0.41797	T	0.013	0.04985	T	9	0.08303878	0.13770	T	9.66E-4	0.00980	T	0.071	0.20720	0.354	0.35408	0.249502417897	0.24576	0.024564068952891576	0.02407	0.0339494246534	0.03563	0.383369028568	0.22734	T	0.003111	0.20077	T	-0.261517	0.12723	T	-0.613427	0.11708	T	0.0907943986532819	0.11312	T	0.369963	0.28413	T	0.13778023	0.31888	0.08918194	0.20839	0.13778023	0.31888	0.08918194	0.20839	-5.055	0.37431	T	.	.	0.105	0.43060	B	.;.;.;.	.;.;.;.	0.290398	0.06670	3.169	0.81514085679319126	0.13723	0.01643	0.05285	N	AEFDBI	0.023759	0.01370	N	-0.674099466726954	0.16762	0.8568519	-0.847439216846972	0.13349	0.6920185	1.33361483427879E-4	0.05486	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.36	1.36	0.21139	-0.995000	0.03823	-13.676000	0.00445	0.638000	0.52053	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.0:0.0:1.0	4.920	0.13216	994	0.00715	Krueppel-associated box|Krueppel-associated box;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1108.98	38	chr19	2916092	.	T	G	1108.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.700e-02;DP=905;ExcessHet=0.0000;FS=0.864;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.79;ReadPosRankSum=-5.710e-01;SOR=0.593	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr19	2933605	2933607	GAA	-	exonic	ZNF77	.	nonframeshift deletion	ZNF77:NM_021217:exon4:c.1520_1522del:p.L507del,	.	.	410	1107	4	1	0	6	0.0027027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.00199681	0.0020	0.0008	0.0010	0	0.0020	0.0021	0	0.0041	0.0001811	28	154602	rs565530193	0.0029	0.0029	0.0028	0.0030	0.0066	0.0028	0.0028	0.0049	0.0046	0.0003	0.0010	7.654e-05	0	0.0015	0.0066	0.0031	0.0026	0.0052	0.0017	0.0017	0.0018	0.0016	0.0025	0.0016	0.0015	0.0021	0.0020	0.0004	0	0.0024	0	0	0.0024	0.0034	0.0024	0.0028	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2619.94	138	chr19	2933604	.	CGAA	C	2619.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.137e+00;DP=2134;ExcessHet=0.0000;FS=2.230;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.99;ReadPosRankSum=-2.150e-01;SOR=0.911	GT:AD:DP:GQ:PL	0/0:93,0:93:99:0,120,1800	20	0	1	0
chr19	2939269	2939291	CACCACCCTTACCCAAGGAGGCA	0	exonic	ZNF77	.	.	.	.	.	542	911	21	2	46	71	0.0135355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1384.19	45	chr19	2939269	.	CACCACCCTTACCCAAGGAGGCA	*,C	1384.19	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=2.05;DP=2044;ExcessHet=0.0082;FS=4.200;InbreedingCoeff=0.4474;MLEAC=3,1;MLEAF=0.071,0.024;MQ=59.54;MQRankSum=4.48;QD=2.58;ReadPosRankSum=-2.704e+00;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:179,0,0:179:99:.:.:0,120,1800,120,1800,1800	18	0	2	0
chr19	2989541	2989541	G	A	exonic	TLE6	.	nonsynonymous SNV	TLE6:NM_024760:exon12:c.G631A:p.G211R	Preimplantation embryonic lethality, Autosomal recessive	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.2	B	0.051	B	.	.	1.000	N	-0.145	N	2.77	T	-0.966	T	0.012	T	0.096	1.403	10.63	-0.34	0.027	3.609	3.210	0.088	0.0071533926068	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394043074	6.852e-07	6.84e-07	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.886e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.322	0.13479	T	0.616	0.07543	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.955	0.23872	L	2.77	0.11407	T	-2.12	0.48184	N	0.184	0.19995	-0.9660	0.38013	T	0.012	0.04463	T	9	0.09512219	0.16967	T	0.007153	0.18951	T	0.088	0.25558	.	.	0.257786959452	0.25393	0.40542967927288276	0.40458	0.359402147737	0.37631	0.27626568079	0.06978	T	0.06343	0.32173	T	-0.324258	0.06555	T	-0.70355	0.05634	T	0.110523255673142	0.13477	T	0.654634	0.26482	T	0.06725806	0.14548	0.079358995	0.17859	0.06725806	0.14548	0.079358995	0.17858	-7.222	0.55639	T	.	.	0.163	0.38959	B	.;.	.;.	2.254994	0.28807	17.92	0.8576653372239823	0.16099	0.38944	0.26102	N	AEFGBI	0.225444	0.34953	N	-0.911859315810561	0.10563	0.5054018	-0.929410652340262	0.11402	0.5806469	1.18801672373978E-4	0.05269	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.15	-0.34	0.12016	3.579000	0.53645	0.566000	0.19559	0.567000	0.28720	0.374000	0.25957	0.000000	0.08366	0.187000	0.21511	0.2899:0.2522:0.4579:0.0	3.210	0.06283	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1195.98	40	chr19	2989541	.	G	A	1195.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.247e+00;DP=797;ExcessHet=0.0000;FS=1.902;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.77;ReadPosRankSum=0.787;SOR=0.454	GT:AD:DP:GQ:PL	0/1:35,46:81:99:1210,0,944	20	0	1	0
chr19	3000657	3000657	C	T	exonic	TLE2	.	nonsynonymous SNV	TLE2:NM_001144762:exon17:c.G1748A:p.S583N	.	.	427	1072	20	3	0	26	0.0119816	.	.	1671777	Neutropenia|Lymphopenia	Human_Phenotype_Ontology:HP:0001875,Human_Phenotype_Ontology:HP:0005515,Human_Phenotype_Ontology:HP:0005533,MONDO:MONDO:0001475,MedGen:C0853697|Human_Phenotype_Ontology:HP:0001888,MONDO:MONDO:0003783,MedGen:C0024312	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.997	D	0.934	D	0.000	D	1.000	D	1.46	L	2.79	T	-1.174	T	0.030	T	0.121	3.398	17.47	3.96	2.237	7.583	13.972	0.199	.	0.0068	0.00938498	0.0117	0.0261	0.0232	0	0.0283	0.0130	0.0282	0.0018	0.004987	771	154602	rs143713547	0.0045	0.0046	0.0045	0.0045	0.0346	0.0044	0.0044	0.0306	0.0291	0.0140	0.0072	0.0071	0	0.0093	0.0346	0.0039	0.0077	0.0022	0.0084	0.0084	0.0084	0.0083	0.0149	0.0080	0.0078	0.0139	0.0135	0.0149	0	0.0098	0.0075	0	0.0107	0.0411	0.0045	0.0147	0.0027	0.025	0.47320	D	0.046	0.49663	D	0.971	0.57185	D	0.934	0.66904	D	0.000001	0.84330	D	0.092112	0.992512	0.81001	D	1.665	0.42610	L	2.79	0.11189	T	-2.57	0.55501	D	0.748	0.77507	-1.1741	0.00464	T	0.030	0.12760	T	10	0.009703219	0.00218	T	.	.	.	0.199	0.48268	.	.	0.734121464286	0.73174	0.6046838372921431	0.60399	0.915692668463	0.71232	0.846584916115	0.89098	D	0.431093	0.77934	T	-0.545414	0.00311	T	-0.54455	0.17852	T	0.0227404209511492	0.00993	T	0.945705	0.79334	D	0.5837768	0.71814	0.39995903	0.64545	0.5837768	0.71815	0.39995903	0.64545	-12.306	0.86310	D	.	.	0.572	0.67702	P	.;.;.;.	.;.;.;.	4.149057	0.62223	24.4	0.99497359993279333	0.67801	0.98307	0.81472	D	AEFBI	0.886248	0.81748	D	0.55790229130904	0.70566	5.520137	0.518921067155833	0.69263	5.335682	0.99920780657887	0.38742	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.96	3.96	0.45097	7.837000	0.85014	3.828000	0.39982	0.486000	0.22242	1.000000	0.71638	1.000000	0.68203	0.677000	0.33454	0.0:1.0:0.0:0.0	13.972	0.63758	982	0.03397	WD40-repeat-containing domain;.;.;WD40-repeat-containing domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1637.98	37	chr19	3000657	.	C	T	1637.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.230e-01;DP=778;ExcessHet=0.0000;FS=1.752;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.83;ReadPosRankSum=0.717;SOR=0.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1169	20	0	1	0
chr19	3178865	3178865	A	G	exonic	S1PR4	.	nonsynonymous SNV	S1PR4:NM_003775:exon1:c.A73G:p.I25V,	.	.	407	1113	2	0	0	2	0.000897666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.023	B	0.02	B	0.000	D	0.999	D	1.04	L	-1.56	D	-0.656	T	0.345	T	0.312	0.668	7.579	2.68	0.413	4.620	8.479	0.211	0.0460836374936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.135	0.34124	T	0.023	0.18885	B	0.02	0.19048	B	0.000016	0.62929	D	0.065142	0.999115	0.46101	D	2.115	0.58683	M	-1.56	0.81815	D	-0.56	0.17003	N	0.218	0.24385	-0.6559	0.62456	T	0.345	0.71012	T	10	0.17148253	0.31870	T	0.046084	0.62291	D	0.211	0.50185	0.405	0.43738	0.355939216326	0.35206	0.37368184002393073	0.37282	0.340037095638	0.35948	0.904923498631	0.96967	D	0.131921	0.46169	T	0.0348673	0.56368	T	-0.187692	0.55806	T	0.211681619286537	0.21041	T	0.467453	0.13767	T	0.05402682	0.10310	0.12429665	0.29961	0.05402682	0.10310	0.12429665	0.29960	-2.344	0.04801	T	.	.	0.262	0.49693	B	.	.	1.257583	0.16549	12.61	0.72781099598500698	0.10093	0.87332	0.46839	D	ALL	0.638533	0.61692	D	-0.720660396569031	0.15441	0.7782297	-0.669080783692762	0.17735	0.9443722	0.999999999746418	0.74766	0.422189	0.06491	0	0.52208	0.09955	0	0.578056	0.29568	0	0.691587	0.68394	0	.	.	3.73	2.68	0.30839	4.657000	0.61185	1.266000	0.25261	-0.251000	0.07141	1.000000	0.71638	0.300000	0.24215	0.127000	0.19450	0.8023:0.1977:0.0:0.0	8.479	0.32193	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	440.98	42	chr19	3178865	.	A	G	440.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.132e+00;DP=686;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.97;ReadPosRankSum=-1.163e+00;SOR=0.580	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,862	20	0	1	0
chr19	3186073	3186073	G	T	exonic	NCLN	.	nonsynonymous SNV	NCLN:NM_001321463:exon1:c.G43T:p.A15S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.11	B	0.02	B	0.034	N	1.000	D	0.695	N	1.46	T	-1.060	T	0.046	T	0.124	2.781	15.26	4.24	1.916	3.014	15.220	0.054	0.279738111072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.917e-07	4.788e-06	1.377e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.494	0.07895	T	0.678	0.08217	T	0.11	0.26188	B	0.02	0.19048	B	0.034315	0.24786	N	0.436377	0.82662	0.81001	D	1.61	0.41143	L	1.46	0.44856	T	-0.29	0.11728	N	0.084	0.06059	-1.0598	0.11805	T	0.046	0.19879	T	10	0.1274347	0.24234	T	0.279738	0.90187	D	0.054	0.15330	0.327	0.31034	0.303871581278	0.30001	0.5741084088332593	0.57339	0.472526826002	0.46490	0.802453279495	0.82337	T	0.015568	0.13030	T	-0.216637	0.18455	T	-0.54896	0.17426	T	0.66625589132309	0.39171	D	0.746025	0.37284	T	0.10892544	0.25753	0.07238618	0.15610	0.10892544	0.25753	0.07238618	0.15610	-3.003	0.10213	T	.	.	0.096	0.16231	B	.;.	.;.	2.814355	0.37057	20.4	0.98410078634484321	0.41169	0.55956	0.29994	D	ALL	0.202576	0.32915	N	-0.292614408228568	0.29432	1.632125	-0.11604396704568	0.34743	2.001954	0.999999999999926	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	4.24	4.24	0.49486	2.511000	0.45137	11.161000	0.87651	0.588000	0.31329	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:1.0:0.0	15.220	0.72990	987	0.02648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	533.98	36	chr19	3186073	.	G	T	533.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.610e-01;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.67;ReadPosRankSum=0.192;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1064	20	0	1	0
chr19	3425109	3425109	C	A	exonic	NFIC	.	nonsynonymous SNV	NFIC:NM_001245002:exon3:c.C566A:p.A189E	.	.	.	.	.	.	.	.	.	.	.	2330754	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.069	B	0.037	B	0.040	U	1.000	D	0.69	N	0.96	T	-1.024	T	0.077	T	0.418	1.393	10.59	3.28	1.385	6.032	13.126	0.134	0.0324082713055	0.0008	0.000199681	0.0006	0.0005	0.0006	0	0	0.0009	0.0025	0	0.0006986	108	154602	rs145828739	0.0009	0.0009	0.0009	0.0009	0.0016	0.0009	0.0008	0.0011	0.0010	0.0001	0.0007	0	0	3.791e-05	0.0016	0.0011	0.0007	0	0.0009	0.0009	0.0009	0.0008	0.0027	0.0008	0.0007	0.0020	0.0018	0.0003	0	0.0027	0	0	0	0	0.0011	0.0033	0	0.005	0.63226	D	0.102	0.38450	T	0.05	0.23796	B	0.033	0.23121	B	0.040206	0.24084	U	0.362994	0.998934	0.81001	D	1.245	0.31408	L	0.96	0.42888	T	-1.35	0.33598	N	0.455	0.53357	-1.0238	0.22476	T	0.077	0.30706	T	10	0.017503679	0.00374	T	0.032408	0.54241	D	0.134	0.36365	.	.	0.41960043425	0.41580	0.5398954167050305	0.53914	0.633592584387	0.57251	0.525960445404	0.42466	T	0.152524	0.49296	T	-0.389146	0.02725	T	-0.372291	0.36622	T	0.0419613113882608	0.04048	T	0.948305	0.80045	D	0.12453583	0.29218	0.23399197	0.48604	0.12453583	0.29218	0.23399197	0.48603	-4.398	0.29530	T	.	.	0.177	0.40889	B	.;.;.;.;.;.	.;.;.;.;.;.	3.205562	0.43612	21.8	0.94780113911716057	0.25509	0.87707	0.47337	D	AEFBI	0.676336	0.64141	D	-0.435062917479969	0.24249	1.308035	-0.388903045989948	0.25326	1.39212	0.999696353172108	0.41870	0.706548	0.73137	0	0.724815	0.89359	0	0.576033	0.28219	0	0.714379	0.83352	0	.	.	3.28	3.28	0.36691	5.958000	0.70050	5.820000	0.50076	0.596000	0.33519	0.560000	0.27425	0.785000	0.26813	0.647000	0.32611	0.0:1.0:0.0:0.0	13.126	0.58776	976	0.04745	CTF transcription factor/nuclear factor 1, DNA-binding domain;.;.;.;.;CTF transcription factor/nuclear factor 1, DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	480.98	34	chr19	3425109	.	C	A	480.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.200e-01;DP=789;ExcessHet=0.0000;FS=1.920;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.87;ReadPosRankSum=1.43;SOR=0.936	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	20	0	1	0
chr19	3543599	3543599	G	A	exonic	C19orf71	.	nonsynonymous SNV	C19orf71:NM_001135580:exon3:c.G367A:p.V123I,	.	.	427	1066	27	2	0	31	0.0143319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.003	B	0.002	B	0.694	N	1.000	N	-1.1	N	1.75	T	-1.015	T	0.011	T	0.071	-1.971	0.007	-8.83	-2.771	-2.119	9.454	0.004	.	0.0044	0.00499201	0.0138	0	0.0071	0	0	0.0092	0.0123	0.0230	0.0021604	334	154602	rs201749907	0.0046	0.0044	0.0040	0.0051	0.0188	0.0045	0.0044	0.0180	0.0177	0.0007	0.0020	0.0238	0	0.0006	0.0126	0.0035	0.0050	0.0188	0.0039	0.0039	0.0039	0.0039	0.0161	0.0036	0.0035	0.0132	0.0122	0.0008	0	0.0015	0.0280	0.0002	0.0003	0.0034	0.0051	0.0048	0.0161	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.002	0.06944	B	0.693564	0.06160	N	1.202900	1	0.08975	N	-1.01	0.01154	N	1.75	0.26152	T	0.03	0.06612	N	0.066	0.03841	-1.0149	0.25368	T	0.011	0.04042	T	10	0.001954198	0.00027	T	.	.	.	0.004	0.00165	.	.	0.0138822411134	0.00435	0.020375539965704063	0.01990	.	.	.	.	.	7.72E-4	0.00369	T	-0.706015	0.00034	T	-0.771981	0.02704	T	0.00593379321502835	0.00065	T	0.533947	0.17813	T	0.019139629	0.00439	0.020590123	0.00144	0.019139629	0.00439	0.020590123	0.00144	-3.916	0.22542	T	.	.	0.079	0.07130	B	.	.	-1.276562	0.00458	0.010	0.90003719366668511	0.19294	0.01947	0.05921	N	AEFDBCI	0.028970	0.02648	N	-2.19496529212612	0.00079	0.003372802	-2.22034743869049	0.00101	0.00442548	0.999999794511618	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.592323	0.36904	0	.	.	4.41	-8.83	0.00696	-2.207000	0.01314	-2.702000	0.03451	-0.282000	0.06404	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.1833:0.3018:0.5149:0.0	9.454	0.37910	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	683.98	39	chr19	3543599	.	G	A	683.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=863;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.12;ReadPosRankSum=0.789;SOR=0.600	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1036	20	0	1	0
chr19	3546284	3546285	TG	-	exonic	MFSD12	.	frameshift deletion	MFSD12:NM_001287529:exon7:c.1137_1138del:p.M380Dfs*24	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2405.94	34	chr19	3546283	.	ATG	A	2405.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.720e-01;DP=932;ExcessHet=0.0000;FS=1.355;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.43;ReadPosRankSum=1.16;SOR=0.853	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485	20	0	1	0
chr19	3546286	3546286	G	A	exonic	MFSD12	.	nonsynonymous SNV	MFSD12:NM_001287529:exon7:c.C1136T:p.A379V	.	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.963	D	0.827	P	0.000	D	1.000	D	1.59	L	-2.47	D	0.590	D	0.726	D	0.556	5.179	32	4.52	2.067	9.102	16.244	0.703	0.324328716268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.019	0.61642	D	0.963	0.55692	D	0.827	0.59428	P	0.000010	0.62929	D	0.112497	0.999996	0.58761	D	1.625	0.41611	L	-2.47	0.88997	D	-2.92	0.61129	D	0.635	0.64989	0.590	0.91766	D	0.726	0.90625	D	10	0.8576658	0.84970	D	0.324329	0.91567	D	0.703	0.89330	0.673	0.81101	0.818747543652	0.81703	0.8635051419527873	0.86314	.	.	0.531340181828	0.43223	T	0.538556	0.84158	D	0.148903	0.69165	D	-0.0238882	0.68772	D	0.949154317378998	0.63051	D	0.960504	0.89535	D	0.27088684	0.50160	0.2652417	0.52354	0.27088684	0.50159	0.2652417	0.52353	-13.232	0.90295	D	.	.	0.647	0.75059	P	.;.;.;.	.;.;.;.	4.752528	0.76759	26.6	0.9993049877895831	0.99334	0.96998	0.72102	D	AEFGBCI	0.935749	0.93105	D	0.616828073106257	0.74236	6.098909	0.613066333059046	0.75889	6.390918	0.999999999720499	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.52	4.52	0.54797	9.223000	0.94355	11.614000	0.93566	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.485000	0.28678	0.0:0.0:1.0:0.0	16.244	0.82257	940	0.13648	.;Major facilitator superfamily domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2405.98	34	chr19	3546286	.	G	A	2405.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.274e+00;DP=932;ExcessHet=0.0000;FS=1.355;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.43;ReadPosRankSum=1.25;SOR=0.853	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485	20	0	1	0
chr19	3613266	3613266	-	TCGCCC	exonic	CACTIN	.	nonframeshift insertion	CACTIN:NM_001080543:exon9:c.1577_1578insGGGCGA:p.G525_D526insEG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	.	0.0007	0.0075	0.0005	0	0.0002	4.924e-05	0	0.0001	0.0005433	84	154602	rs762891565	0.0004	0.0004	0.0004	0.0003	0.0081	0.0003	0.0003	0.0073	0.0070	0.0081	0.0005	0	0	0.0003	0	0.0002	0.0007	2.321e-05	0.0027	0.0027	0.0026	0.0029	0.0090	0.0025	0.0024	0.0083	0.0080	0.0090	0	0.0007	0	0	0.0002	0	0.0004	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1190.94	34	chr19	3613266	.	G	GTCGCCC	1190.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.770e-01;DP=776;ExcessHet=0.0000;FS=1.013;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.53;ReadPosRankSum=-1.950e-01;SOR=0.957	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1076	20	0	1	0
chr19	3626603	3626603	C	G	exonic	CACTIN	.	nonsynonymous SNV	CACTIN:NM_001080543:exon1:c.G160C:p.E54Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.079	B	0.019	B	.	.	1.000	N	0	N	.	.	-1.065	T	0.059	T	0.217	2.297	13.64	4.47	2.201	1.433	12.991	0.032	0.00818847364444	.	.	5.794e-05	0	0	0	0	0	0	0.0003	6.5e-06	1	154602	rs759881630	2.268e-06	2.736e-06	1.496e-06	3.056e-06	3.731e-05	6e-07	1.7e-07	.	.	3.731e-05	0	0	0	0	0	0	1.852e-05	1.399e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.462	0.12526	T	0.079	0.24468	B	0.019	0.18783	B	.	.	.	.	1	0.81001	D	1.1	0.28011	L	.	.	.	-0.62	0.18248	N	0.22	0.24634	-1.0646	0.10642	T	0.059	0.24908	T	8	0.065612614	0.08878	T	0.008188	0.21700	T	0.032	0.07718	0.235	0.16457	0.165150595986	0.16160	0.28331686271708073	0.28244	0.61882277947	0.56262	0.712203860283	0.68913	T	0.014245	0.12164	T	-0.259699	0.12934	T	-0.441688	0.28620	T	0.14051289512154	0.16319	T	0.457454	0.13149	T	0.14603762	0.33449	0.08888672	0.20752	0.14603762	0.33449	0.08888672	0.20751	-5.302	0.39963	T	.	.	0.089	0.12084	B	.;.;.	.;.;.	2.776884	0.36468	20.3	0.97161893741784477	0.32634	0.63158	0.32002	D	AEFDGBHCI	0.163828	0.29015	N	-0.360570021452801	0.26885	1.470822	-0.189520842612113	0.31920	1.811058	1.0	0.98316	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	4.47	4.47	0.53770	0.553000	0.23098	2.436000	0.32752	0.524000	0.24156	0.145000	0.23581	1.000000	0.68203	0.075000	0.16954	0.0:1.0:0.0:0.0	12.991	0.58019	958	0.09170	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	523.98	21	chr19	3626603	.	C	G	523.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.02;DP=660;ExcessHet=0.0000;FS=6.129;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=0.872;SOR=1.609	GT:AD:DP:GQ:PL	0/0:30,0:30:84:0,84,1260	20	0	1	0
chr19	3633439	3633439	T	C	exonic	PIP5K1C	.	nonsynonymous SNV	PIP5K1C:NM_012398:exon17:c.A2002G:p.T668A,	Lethal congenital contractural syndrome 3, Autosomal recessive	.	2	1519	1	0	0	1	0.000329056	0.0570	0.174	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.001	B	0.003	B	0.001	U	1.000	D	0.345	N	1.42	T	-1.085	T	0.045	T	0.347	2.741	15.13	3.39	1.325	3.007	11.305	0.070	0.195228640087	.	.	5.106e-05	0	0	0	0	0	0	0.0007	1.94e-05	3	154602	rs574992169	1.192e-05	1.437e-05	4.371e-06	1.98e-05	0.0002	7.05e-06	5.71e-06	0.0001	0.0001	0	0	0	0	0	0.0002	0	0	0.0002	1.315e-05	1.313e-05	1.286e-05	1.346e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.001	0.07471	B	0.003	0.08700	B	0.001160	0.40056	U	0.100852	1	0.81001	D	0.975	0.24501	L	1.42	0.33189	T	-1.42	0.34992	N	0.555	0.58031	-1.0850	0.06407	T	0.045	0.19316	T	10	0.11431903	0.21504	T	0.195229	0.86409	D	0.070	0.20419	0.149	0.05238	0.158540857583	0.15491	.	.	0.393172029493	0.40493	0.767302453518	0.77020	T	0.143824	0.48014	T	-0.084892	0.38915	T	-0.359718	0.38086	T	0.386096883022631	0.28416	T	0.638636	0.25202	T	0.3363771	0.55990	0.25766122	0.51487	0.3363771	0.55990	0.25766122	0.51486	-2.815	0.08322	T	.	.	0.072	0.04277	B	.	.	3.327272	0.45789	22.2	0.98847816077936002	0.47237	0.85349	0.44473	D	AEFDBI	0.459520	0.51009	N	-0.35204824175448	0.27197	1.490236	-0.203422039996571	0.31413	1.777534	0.0195240979268175	0.13170	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.39	3.39	0.37919	4.872000	0.62744	4.691000	0.44365	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.837000	0.39485	0.0:0.0:0.0:1.0	11.305	0.48565	964	0.07719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	898.98	33	chr19	3633439	.	T	C	898.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.940e-01;DP=816;ExcessHet=0.0000;FS=1.958;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=-6.710e-01;SOR=0.830	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	20	0	1	0
chr19	3637462	3637462	C	T	exonic	PIP5K1C	.	nonsynonymous SNV	PIP5K1C:NM_001300849:exon17:c.G2072A:p.R691Q,	Lethal congenital contractural syndrome 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0221483762562	.	.	.	.	.	.	.	.	.	.	.	.	.	rs138081265	1.952e-05	1.847e-05	2.14e-05	1.758e-05	0.0002	1.337e-05	1.146e-05	1.251e-05	1.062e-05	3.166e-05	0	3.973e-05	2.799e-05	0	0.0002	1.947e-05	0	2.524e-05	1.314e-05	1.313e-05	1.285e-05	1.346e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.64	0.27822	T	.	.	.	0.058	0.02964	.	.	.	.	.	.	.	0.055750787	0.06142	T	0.022148	0.45008	T	.	.	.	.	0.0675242888579	0.06100	0.23577947208629216	0.23492	.	.	.	.	.	.	.	.	-0.198653	0.20999	T	-0.497947	0.22560	T	.	.	.	0.385361	0.09439	T	.	.	.	.	.	.	.	.	-3.992	0.23683	T	.	.	0.089	0.12276	B	.	.	0.081044	0.04871	1.460	0.85029035284495791	0.15642	0.01517	0.05008	N	AEFDBI	0.045035	0.07317	N	.	.	.	.	.	.	0.00112838207178433	0.08250	0.651	0.46895	0	0.708844	0.79440	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	2.28	-2.93	0.05261	-0.187000	0.09652	-0.466000	0.09008	-1.078000	0.01575	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3625:0.4053:0.0:0.2322	3.018	0.05698	964	0.07719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2252.98	46	chr19	3637462	.	C	T	2252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.221;DP=988;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=0.563;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1227	20	0	1	0
chr19	3728427	3728427	G	A	exonic	TJP3	.	nonsynonymous SNV	TJP3:NM_001267561:exon2:c.G22A:p.A8T,	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.253	B	0.087	B	0.384	N	0.581	N	0.345	N	2.36	T	-0.919	T	0.016	T	0.016	-0.165	3.195	-3.19	-0.242	-1.092	7.732	0.048	0.0236393588376	.	.	1.69e-05	0	0	0	0	3.069e-05	0	0	1.29e-05	2	154602	rs773191273	5.062e-05	5.062e-05	6.125e-05	3.988e-05	0.0007	4.125e-05	3.778e-05	0.0002	0.0001	0	6.708e-05	0	0	0	0.0007	5.486e-05	6.623e-05	2.319e-05	3.942e-05	3.94e-05	2.569e-05	5.38e-05	5.879e-05	1.715e-05	1.129e-05	1.972e-05	1.124e-05	4.824e-05	0	0	0	0	0	0	5.879e-05	0	0	.	.	.	0.076	0.42614	T	0.16	0.28337	B	0.087	0.29615	B	0.384002	0.13349	N	0.486110	0.999998	0.31099	N	.	.	.	3.21	0.16089	T	.	.	.	0.12	0.11054	-0.9194	0.45635	T	0.016	0.06616	T	10	0.035661697	0.01825	T	0.023639	0.46609	T	.	.	.	.	0.0138822411134	0.00435	0.14970632029613892	0.14892	0.119140381847	0.13418	0.475925952196	0.35496	T	.	.	.	-0.549294	0.00294	T	-0.840895	0.01085	T	0.027890009721931	0.01672	T	0.580242	0.20999	T	.	.	.	.	.	.	.	.	-4.217	0.30954	T	.	.	0.100	0.17232	B	.;.	.;.	0.802651	0.11733	8.311	0.69587505812338879	0.09020	0.03000	0.07863	N	AEFDGBI	0.102305	0.20526	N	-1.24484376242009	0.04368	0.1969956	-1.28825637381235	0.04588	0.2167878	0.994052164717658	0.33468	0.741868	0.97996	0	0.547309	0.14657	0	0.774882	0.98623	0	0.562822	0.20929	0	.	.	3.9	-3.19	0.04853	-1.351000	0.02729	-0.571000	0.08426	0.658000	0.54486	0.000000	0.06391	0.000000	0.08366	0.778000	0.36829	0.0:0.3563:0.2918:0.3518	7.732	0.27957	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1283.98	33	chr19	3728427	.	G	A	1283.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.367;DP=784;ExcessHet=0.0000;FS=3.184;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.25;ReadPosRankSum=-9.540e-01;SOR=1.162	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1092	20	0	1	0
chr19	3730619	3730619	C	A	exonic	TJP3	.	nonsynonymous SNV	TJP3:NM_001267560:exon5:c.C526A:p.L176M	.	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	1.0	D	0.999	D	0.155	N	0.898	D	1.1	L	3.13	T	-1.069	T	0.009	T	0.29	2.933	15.78	2.47	0.921	2.402	9.475	0.112	.	0.0090	0.0107827	0.0028	0.0320	0.0011	0	0	0.0002	0.0023	0	0.0027167	420	154602	rs138301512	0.0010	0.0010	0.0010	0.0009	0.0304	0.0009	0.0009	0.0288	0.0282	0.0304	0.0020	0	0	0	0.0012	0.0001	0.0022	6.956e-05	0.0087	0.0087	0.0090	0.0084	0.0298	0.0083	0.0082	0.0284	0.0278	0.0298	0	0.0039	0	0	0	0	0.0002	0.0090	0.0002	0.072	0.34982	T	0.303	0.23707	T	1.0	0.90584	D	0.999	0.92359	D	0.154617	0.17856	N	0.515300	0.840971	0.36098	D	2.42	0.70002	M	2.99	0.09262	T	-0.14	0.09135	N	0.458	0.49511	-1.0692	0.09590	T	0.009	0.03096	T	10	0.0048835874	0.00104	T	.	.	.	0.112	0.31546	.	.	0.0611884634855	0.05136	0.25545121579367996	0.25459	0.559436985123	0.52489	0.671503543854	0.63052	T	0.126795	0.45340	T	-0.525978	0.00406	T	-0.504622	0.21868	T	0.0441929449910255	0.04455	T	0.805019	0.45286	T	0.08137048	0.18693	0.0652149	0.13185	0.08137048	0.18693	0.0652149	0.13184	-4.473	0.31982	T	.	.	0.173	0.45310	B	.;.;.;.	.;.;.;.	2.389292	0.30678	18.51	0.99283855108197427	0.58008	0.96701	0.70478	D	AEFGBI	0.449605	0.50435	N	0.0430193104213559	0.43821	2.667693	0.00120427486480655	0.39772	2.363257	0.00661645726087183	0.11264	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.6	2.47	0.29113	3.438000	0.52634	1.332000	0.25676	-0.431000	0.05201	0.995000	0.38783	0.759000	0.26609	0.276000	0.23917	0.0:0.8258:0.0:0.1742	9.475	0.38031	964	0.07719	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1017.98	41	chr19	3730619	.	C	A	1017.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.553;DP=899;ExcessHet=0.0000;FS=5.896;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=-6.630e-01;SOR=0.691	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr19	3762773	3762773	G	A	exonic	MRPL54	.	nonsynonymous SNV	MRPL54:NM_172251:exon1:c.G73A:p.A25T,	.	.	426	1087	9	0	0	9	0.00412277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.066	B	0.004	B	0.096	N	1.000	N	0.805	L	.	.	-1.023	T	0.069	T	0.062	2.802	15.33	-1.07	-0.019	-0.091	2.355	0.023	.	0.0002	0.00339457	0.0020	0	8.672e-05	0	0.0002	0.0002	0.0034	0.0138	0.0016235	251	154602	rs142303315	0.0009	0.0009	0.0005	0.0012	0.0127	0.0008	0.0008	0.0121	0.0118	3.028e-05	0	0	0	1.908e-05	0.0019	7.575e-05	0.0010	0.0127	0.0005	0.0005	0.0003	0.0007	0.0135	0.0004	0.0004	0.0108	0.0099	4.81e-05	0	0	0	0.0002	9.414e-05	0	0.0001	0.0009	0.0135	0.107	0.29554	T	0.21	0.26714	T	0.066	0.23586	B	0.004	0.10090	B	0.095915	0.02501	N	1.952730	1	0.08975	N	1.545	0.39105	L	.	.	.	-0.54	0.16598	N	0.063	0.03502	-1.0227	0.22834	T	0.069	0.28147	T	9	0.00318861	0.00054	T	.	.	.	0.023	0.04649	.	.	0.0716867268079	0.06686	0.17577268516966726	0.17496	0.148584724531	0.16762	0.369001716375	0.20688	T	0.023137	0.17715	T	-0.61193	0.00123	T	-0.640741	0.09615	T	0.0314633672666874	0.02220	T	0.411659	0.10685	T	0.040142413	0.05673	0.064286456	0.12861	0.040142413	0.05673	0.064286456	0.12861	-4.46	0.30362	T	.	.	0.071	0.03698	B	.	.	0.585748	0.09544	6.318	0.96914827859104646	0.31593	0.03592	0.08815	N	ALL	0.358767	0.44933	N	-0.95796852417589	0.09514	0.4506561	-1.00233698350612	0.09734	0.4860026	0.999999999999902	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.57	-1.07	0.09459	0.073000	0.14504	-0.197000	0.10982	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1488:0.2474:0.4517:0.152	2.355	0.04031	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2330.08	33	chr19	3762773	.	G	A	2330.08	.	AC=2;AF=0.048;AN=42;DP=823;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.77;SOR=1.058	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	1	0	0
chr19	3869001	3869001	T	C	exonic	ZFR2	.	nonsynonymous SNV	ZFR2:NM_001145640:exon1:c.A17G:p.Y6C	.	.	411	1110	1	0	0	1	0.000450248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.995	D	0.878	P	.	.	1.000	N	0.895	L	2.58	T	-0.952	T	0.073	T	0.167	0.505	6.740	-6.05	-0.692	-0.596	11.038	0.072	.	0.0027	0.000199681	0.0060	0	0	0	.	0.0115	0	0.0034	0.0005886	91	154602	rs199514567	0.0042	0.0038	0.0042	0.0042	0.0044	0.0041	0.0040	0.0043	0.0043	0.0006	0.0020	0.0085	0	0.0070	0.0013	0.0044	0.0036	0.0012	0.0031	0.0031	0.0032	0.0031	0.0043	0.0029	0.0028	0.0039	0.0037	0.0008	0.0088	0.0021	0.0081	0	0.0071	0	0.0043	0.0019	0.0006	0.002	0.72154	D	0.004	0.74150	D	0.992	0.67487	D	0.737	0.62312	P	.	.	.	.	1	0.18612	N	0.66	0.16226	N	2.58	0.13434	T	-2.7	0.98093	D	0.099	0.12913	-0.9518	0.40660	T	0.073	0.29547	T	9	0.0040760934	0.00080	T	.	.	.	0.072	0.21020	.	.	0.141422826196	0.13715	0.6056630266976566	0.60497	0.0898818608741	0.10143	0.59149569273	0.51705	T	0.080179	0.36302	T	-0.617924	0.00113	T	-0.659291	0.08315	T	0.0609157743615174	0.07311	T	0.441056	0.12198	T	0.10784477	0.25500	0.1999572	0.43903	0.10784477	0.25500	0.1999572	0.43902	-8.06	0.61479	D	.	.	0.119	0.39477	B	.;.	.;.	0.408244	0.07791	4.481	0.82989809910937551	0.14483	0.01548	0.05077	N	AEDBHCIJ	0.033121	0.03870	N	-0.946184240072443	0.09779	0.4643152	-1.23135530970711	0.05413	0.2578587	0.999264644894886	0.38940	0.582742	0.33608	0	0.59043	0.45803	0	0.52208	0.10781	0	0.620976	0.48614	0	.	.	3.03	-6.05	0.01988	-1.869000	0.01735	-2.699000	0.03454	-2.097000	0.00396	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.7465:0.2535	11.038	0.47033	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	146.98	23	chr19	3869001	.	T	C	146.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.160e-01;DP=648;ExcessHet=0.0000;FS=1.657;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.65;ReadPosRankSum=2.45;SOR=0.677	GT:AD:DP:GQ:PL	0/0:31,0:31:93:0,93,953	20	0	1	0
chr19	3905580	3905580	G	A	exonic	ATCAY	.	nonsynonymous SNV	ATCAY:NM_033064:exon4:c.G283A:p.V95M,	Ataxia, cerebellar, Cayman type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	881961	Cayman_type_cerebellar_ataxia	MONDO:MONDO:0011025,MedGen:C1832585,OMIM:601238,Orphanet:94122	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.998	D	0.975	D	0.001	N	1.000	D	2.42	M	0.93	T	-0.493	T	0.269	T	0.61	4.528	24.4	4.77	2.206	7.251	16.839	0.232	0.0565323876434	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1381590154	2.668e-05	2.668e-05	2.45e-05	2.888e-05	4.472e-05	1.998e-05	1.754e-05	2.285e-05	2.023e-05	2.987e-05	4.472e-05	0	2.519e-05	0	0	3.148e-05	0	0	2.632e-05	2.627e-05	2.573e-05	2.694e-05	0.0001	8.15e-06	5.15e-06	2.272e-05	9.11e-06	2.415e-05	0	0.0001	0	0	0	0	1.471e-05	0	0	0.001	0.78490	D	0.01	0.72224	D	0.993	0.65571	D	0.951	0.68939	D	0.001105	0.40219	N	0.210703	0.998614	0.48141	D	2.82	0.82106	M	1.08	0.44461	T	-2.44	0.53420	N	0.776	0.78451	-0.4932	0.68894	T	0.269	0.64045	T	10	0.57537043	0.65549	D	0.056532	0.66639	D	0.232	0.53354	.	.	0.734756840749	0.73239	0.600362128630661	0.59967	1.16277109801	0.79540	0.902813792229	0.96746	D	0.426015	0.77594	T	-0.104975	0.35599	T	-0.219437	0.52791	T	0.812366664409637	0.47216	D	0.982102	0.93912	D	0.24581172	0.47543	0.26198924	0.51985	0.24581172	0.47543	0.26198924	0.51984	-6.582	0.50915	T	0.27686436895310473	0.37150	0.777	0.76259	P	.;.;.	.;.;.	5.031622	0.83695	28.1	0.99907888839208114	0.97801	0.96664	0.70285	D	AEFBI	0.895039	0.83464	D	0.749567294751913	0.82876	7.872536	0.698332341930515	0.82251	7.721236	0.999987049908568	0.51787	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	4.77	4.77	0.60425	7.369000	0.78835	11.096000	0.86022	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.0:0.0:1.0:0.0	16.839	0.85828	958	0.09170	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2472.98	35	chr19	3905580	.	G	A	2472.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=923;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.61;ReadPosRankSum=-9.380e-01;SOR=0.705	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1235	20	0	1	0
chr19	3936577	3936600	TGACCAACGGCGGCAAGACCACGC	-	exonic	NMRK2	.	nonframeshift deletion	NMRK2:NM_001375467:exon2:c.29_52del:p.G13_N20del	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1203231097	2.498e-05	2.531e-05	2.398e-05	2.601e-05	0.0004	1.814e-05	1.605e-05	6.179e-05	2.554e-05	3.128e-05	0	0	0	0	0.0004	2.678e-05	1.716e-05	2.511e-05	1.314e-05	1.313e-05	0	2.69e-05	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3427.05	38	chr19	3936576	.	ATGACCAACGGCGGCAAGACCACGC	A	3427.05	.	AC=2;AF=0.048;AN=42;DP=818;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.04;SOR=0.948	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1111	20	1	0	0
chr19	3964963	3964963	G	A	exonic	DAPK3	.	nonsynonymous SNV	DAPK3:NM_001348:exon3:c.C91T:p.R31W	.	.	416	1100	6	0	0	6	0.00271985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.854	P	0.003	N	0.999	D	1.65	L	0.95	T	-0.760	T	0.200	T	0.526	4.254	22.2	5.43	2.542	4.177	18.226	0.213	0.0240310286218	0.0002	.	0.0003	0	8.672e-05	0	0	0.0004	0	0.0002	0.0002264	35	154602	rs199986718	0.0002	0.0002	0.0001	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	0.0001	0.0002	0	2.521e-05	1.936e-05	0.0014	0.0002	0.0004	0.0006	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	8.717e-05	0.0002	0.0002	2.408e-05	0	0	0	0	0	0	0.0003	0.0005	0.0004	0.019	0.50132	D	0.005	0.72224	D	0.998	0.73220	D	0.854	0.60866	P	0.003266	0.35183	N	0.231703	0.999488	0.47237	D	1.705	0.44259	L	0.95	0.43279	T	-4.98	0.82141	D	0.683	0.69125	-0.7605	0.57379	T	0.200	0.55569	T	10	0.4154654	0.56511	T	0.024031	0.47011	T	0.213	0.50496	.	.	0.698531932334	0.69592	0.5850150405861305	0.58431	1.69861405098	0.90253	0.604177474976	0.53494	T	0.289675	0.66246	T	-0.277954	0.10885	T	-0.324659	0.42062	T	0.192565472299172	0.19994	T	0.958404	0.84591	D	0.58896416	0.72094	0.52240056	0.72407	0.58896416	0.72096	0.52240056	0.72408	-11.557	0.82627	D	.	.	0.149	0.35331	B	.;.;.;.;.	.;.;.;.;.	4.662087	0.74425	26.2	0.99926078931267803	0.99103	0.88057	0.47821	D	AEFGBCI	0.865512	0.78463	D	0.590280975396104	0.72568	5.826172	0.586416865947851	0.73965	6.057492	0.999975636875755	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.43	5.43	0.79006	5.081000	0.64274	4.880000	0.45656	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.491000	0.28814	0.0:0.0:1.0:0.0	18.226	0.89853	867	0.32089	Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1086.98	39	chr19	3964963	.	G	A	1086.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.861;DP=784;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.10;ReadPosRankSum=0.017;SOR=0.729	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1173	20	0	1	0
chr19	4171706	4171706	G	A	exonic	CREB3L3	.	nonsynonymous SNV	CREB3L3:NM_001271995:exon10:c.G1120A:p.A374T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.005	B	0.002	B	0.413	N	1.000	N	0.6	N	-1.61	D	-0.834	T	0.225	T	0.089	0.483	6.620	-2.13	-0.074	-2.775	3.155	0.127	0.0231714185166	.	.	4.245e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs759936269	2.122e-05	2.121e-05	4.086e-06	3.852e-05	0.0004	1.521e-05	1.325e-05	0.0003	0.0002	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.433	0.09458	T	0.658	0.06554	T	0.003	0.12996	B	0.001	0.06944	B	0.413436	0.04605	N	1.472120	1	0.08975	N	0.345	0.11182	N	-1.61	0.82254	D	-0.57	0.17210	N	0.018	0.00717	-0.8337	0.53061	T	0.225	0.58982	T	10	0.05925286	0.07093	T	0.023171	0.46115	T	0.143	0.38195	0.076	0.00544	0.791729933852	0.78979	0.22731955379755142	0.22646	0.0963055887176	0.10868	0.412785172462	0.26842	T	0.101008	0.40736	T	-0.397956	0.02388	T	-0.509089	0.21410	T	0.0279561801765651	0.01681	T	0.543046	0.18512	T	0.027418602	0.01931	0.043792672	0.05529	0.027418602	0.01930	0.043792672	0.05529	-4.007	0.23909	T	0.09066096476097817	0.05670	0.065	0.01986	B	.;.;.	.;.;.	-1.160806	0.00572	0.014	0.77808821292218533	0.12031	0.01741	0.05494	N	AEFBCI	0.225188	0.34931	N	-0.842547258560137	0.12233	0.5950804	-1.02245711657006	0.09292	0.4614585	9.64926006881165E-4	0.08067	0.516011	0.20929	0	0.610034	0.51514	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	3.53	-2.13	0.06745	-4.239000	0.00305	-2.753000	0.03397	0.590000	0.31872	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.3445:0.0:0.4671:0.1884	3.155	0.06113	934	0.15400	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1519.98	33	chr19	4171706	.	G	A	1519.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.205e+00;DP=848;ExcessHet=0.0000;FS=1.374;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=-1.068e+00;SOR=0.833	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1575	20	0	1	0
chr19	4171934	4171934	C	T	exonic	CREB3L3	.	nonsynonymous SNV	CREB3L3:NM_001271995:exon10:c.C1348T:p.R450C	.	.	.	.	.	.	.	.	.	.	.	1938459	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.998	D	0.649	P	.	.	0.677	D	0.805	L	-1.85	D	0.124	D	0.475	T	0.158	2.073	12.89	3.27	2.128	0.646	10.312	0.257	0.304062201958	7.7e-05	.	8.335e-05	0	0	0	0	0.0001	0	7.017e-05	5.17e-05	8	154602	rs201461744	7.546e-05	7.593e-05	7.371e-05	7.724e-05	9.183e-05	6.4e-05	5.955e-05	7.693e-05	7.18e-05	0	0	0	2.525e-05	1.936e-05	0	9.183e-05	8.306e-05	1.163e-05	6.57e-05	6.567e-05	6.421e-05	6.726e-05	0.0001	3.516e-05	2.616e-05	6.804e-05	5.088e-05	2.412e-05	0	0	0	0	0	0	0.0001	0	0	0.001	0.78490	D	0.01	0.66756	D	0.997	0.73220	D	0.446	0.52426	B	.	.	.	.	0.677139	0.33198	D	0.975	0.24501	L	-1.85	0.84267	D	-2.34	0.51811	N	0.06	0.24260	0.124	0.84606	D	0.475	0.79857	T	9	0.18009484	0.33176	T	0.304062	0.90976	D	0.257	0.56827	.	.	0.881602746361	0.88044	0.11865364286689471	0.11792	0.196977455865	0.22071	0.352024614811	0.18220	T	0.267163	0.63918	T	-0.220898	0.17872	T	-0.306772	0.44004	T	0.146855153559311	0.16850	T	0.580842	0.21027	T	0.1733859	0.38084	0.21742333	0.46407	0.1733859	0.38083	0.21742333	0.46406	-6.869	0.53070	T	.	.	0.100	0.23500	B	.;.;.	.;.;.	1.774719	0.22568	15.67	0.99076609325140541	0.51858	0.04468	0.10077	N	AEFDBCI	0.466428	0.51408	N	-0.302909269550725	0.29037	1.606748	-0.45887954338422	0.23297	1.269748	0.893871378333486	0.25916	0.59774	0.34471	0	0.610034	0.51514	0	0.596491	0.31596	0	0.542086	0.14980	0	.	.	3.27	3.27	0.36580	0.681000	0.25001	0.627000	0.20189	0.524000	0.24156	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.0:1.0:0.0:0.0	10.312	0.42898	934	0.15400	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1084.98	33	chr19	4171934	.	C	T	1084.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.629;DP=866;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.19;ReadPosRankSum=0.080;SOR=0.684	GT:AD:DP:GQ:PL	0/1:52,45:97:99:1099,0,1264	20	0	1	0
chr19	4199926	4199926	A	G	exonic	ANKRD24	.	nonsynonymous SNV	ANKRD24:NM_133475:exon4:c.A175G:p.N59D,	.	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.34	B	0.316	B	.	.	0.540	D	1.005	L	1.61	T	-0.981	T	0.058	T	0.128	1.886	12.27	1.3	0.153	1.092	6.484	0.079	0.0127054441614	0.0014	0.000798722	0.0006	0.0057	0.0023	0	0	0	0	0	0.0002652	41	154602	rs143744058	0.0001	0.0001	0.0001	0.0001	0.0052	0.0001	0.0001	0.0046	0.0043	0.0052	0.0003	0	0	0	0.0005	9.168e-07	0.0003	0	0.0015	0.0015	0.0014	0.0015	0.0052	0.0013	0.0012	0.0046	0.0044	0.0052	0	0.0003	0	0	0	0	0	0.0009	0	0.16	0.29959	T	0.112	0.37037	T	0.041	0.33445	B	0.046	0.41603	B	.	.	.	.	0.539876	0.32045	D	0.96	0.23930	L	1.61	0.28391	T	-2.49	0.54864	N	0.337	0.41360	-0.9813	0.34701	T	0.058	0.24502	T	9	0.00720191	0.00164	T	0.012705	0.31501	T	0.079	0.23065	.	.	0.303453137403	0.29957	0.5934390991011288	0.59273	0.640128570775	0.57655	0.682157039642	0.64579	T	0.014401	0.24688	T	-0.568781	0.00225	T	-0.587457	0.13886	T	0.0235909865380955	0.01094	T	0.543046	0.21439	T	0.1468627	0.33600	0.12600228	0.30352	0.1468627	0.33599	0.12600228	0.30351	-8.886	0.71882	D	.	.	0.069	0.24294	B	.;.;.;.	.;.;.;.	1.481262	0.19065	14.07	0.98504537452180918	0.42264	0.72742	0.35595	D	AEFDGBHCI	0.216065	0.34136	N	-0.507598694440789	0.21834	1.161598	-0.437185039214063	0.23915	1.306704	0.995443525409198	0.34130	0.712529	0.81865	0	0.61073	0.52368	0	0.635938	0.45252	0	0.586402	0.36253	0	.	.	4.55	1.3	0.20778	1.117000	0.30848	-0.370000	0.09613	0.554000	0.28208	0.994000	0.38300	0.000000	0.08366	0.822000	0.38733	0.689:0.0:0.311:0.0	6.484	0.21276	923	0.18507	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	851.98	40	chr19	4199926	.	A	G	851.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.112e+00;DP=1075;ExcessHet=0.0000;FS=2.640;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.52;ReadPosRankSum=0.208;SOR=0.467	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1145	20	0	1	0
chr19	4207507	4207507	G	A	exonic	ANKRD24	.	nonsynonymous SNV	ANKRD24:NM_133475:exon9:c.G544A:p.A182T,	.	.	423	1097	2	0	0	2	0.000910747	.	.	2434622	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.67	T	0.068	B	0.013	B	0.735	N	0.996	N	0.305	N	-0.09	T	-1.003	T	0.104	T	0.049	-0.249	2.801	3.82	0.896	0.387	4.820	0.067	0.0177014752908	7.9e-05	0.000199681	9.11e-05	0.0001	0	0.0001	0	5.995e-05	0.0011	0.0002	8.41e-05	13	154602	rs372390380	9.305e-05	9.44e-05	0.0001	8.115e-05	0.0003	8.027e-05	7.52e-05	7.774e-05	7.26e-05	0	2.236e-05	3.827e-05	5.038e-05	1.875e-05	0.0003	9.264e-05	0.0002	0.0001	8.54e-05	8.53e-05	0.0001	4.031e-05	0.0002	4.956e-05	3.962e-05	9.049e-05	7.013e-05	2.408e-05	0	0	0	0	0	0	0.0002	0.0005	0	0.61	0.08762	T	1.0	0.02459	T	0.031	0.23728	B	0.011	0.16460	B	0.734837	0.09824	N	0.811877	0.995994	0.23144	N	0.31	0.10265	N	-0.09	0.64086	T	-0.47	0.15178	N	0.203	0.22614	-1.0027	0.29139	T	0.104	0.38292	T	10	0.067918	0.09532	T	0.017701	0.39501	T	0.067	0.19503	.	.	0.386721274199	0.38283	0.07979517128591689	0.07914	0.275170770454	0.30004	0.351333588362	0.18118	T	0.010312	0.09320	T	-0.40872	0.02027	T	-0.60954	0.12022	T	0.0206220273664608	0.00762	T	0.709329	0.31993	T	0.036593173	0.04531	0.040650666	0.04443	0.036593173	0.04531	0.040650666	0.04442	-5.972	0.49188	T	.	.	0.064	0.03736	B	.;.;.;.	.;.;.;.	1.484059	0.19102	14.09	0.85898798756718098	0.16183	0.10132	0.15722	N	AEFDGBHCI	0.035789	0.04663	N	-0.787130450545478	0.13645	0.6736743	-0.678049767182094	0.17509	0.9313974	0.988769342371669	0.31620	0.631981	0.41245	0	0.61073	0.52368	0	0.779548	0.98927	0	0.296957	0.05502	2	.	.	4.86	3.82	0.43153	0.983000	0.29150	2.818000	0.34946	-0.158000	0.11653	0.007000	0.17678	0.850000	0.27382	0.110000	0.18741	0.2182:0.0:0.7818:0.0	4.820	0.12751	917	0.20147	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2832.98	49	chr19	4207507	.	G	A	2832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.820e-01;DP=1160;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=1.81;SOR=0.723	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	20	0	1	0
chr19	4210334	4210334	C	T	exonic	ANKRD24	.	nonsynonymous SNV	ANKRD24:NM_133475:exon13:c.C1021T:p.R341W,	.	.	408	1112	1	1	0	3	0.0013471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.987	D	.	.	0.996	N	0.345	N	1.32	T	-1.019	T	0.101	T	0.432	3.742	19.00	0.857	-0.028	0.631	7.419	0.116	.	.	0.00259585	0.0049	0	0	0.0005	0	5.281e-05	0	0.0202	0.0016494	255	154602	rs374562535	0.0009	0.0010	0.0005	0.0013	0.0153	0.0009	0.0009	0.0146	0.0143	6.12e-05	2.619e-05	0	7.955e-05	0	0.0012	1.28e-05	0.0010	0.0153	0.0005	0.0005	0.0002	0.0008	0.0164	0.0004	0.0004	0.0135	0.0124	0	0	0	0	0	0	0	0	0	0.0164	0.001	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.965	0.77487	D	.	.	.	.	0.995847	0.23185	N	2.045	0.56016	M	1.32	0.36330	T	-4.26	0.76496	D	0.654	0.66443	-1.0194	0.23910	T	0.101	0.37493	T	9	0.008230388	0.00187	T	.	.	.	0.116	0.32463	0.389	0.41115	0.629278366606	0.62625	0.5006940601369507	0.49990	0.837446859487	0.67872	0.641699075699	0.58806	T	0.111562	0.55443	T	-0.40877	0.02025	T	-0.346973	0.39552	T	0.111579293576507	0.13586	T	0.923508	0.72277	D	0.19834836	0.41735	0.25345725	0.50993	0.19834836	0.41734	0.25345725	0.50992	-12.399	0.86740	D	.	.	0.271	0.52679	B	.;.;.;.	.;.;.;.	4.323346	0.66182	24.9	0.99908179433688915	0.97801	0.67400	0.33419	D	AEFBI	0.693222	0.65262	D	0.0675094799840989	0.44953	2.760002	0.0279569398283861	0.41018	2.457332	2.01903339389923E-6	0.01202	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.45	0.857	0.18162	0.672000	0.24868	2.369000	0.32418	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.3662:0.4838:0.15:0.0	7.419	0.26233	917	0.20147	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2110.98	44	chr19	4210334	.	C	T	2110.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.705;DP=899;ExcessHet=0.0000;FS=0.645;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.75;ReadPosRankSum=-1.110e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,120,1800	20	0	1	0
chr19	4268590	4268590	C	T	exonic	YJU2	.	nonsynonymous SNV	YJU2:NM_018074:exon8:c.C866T:p.P289L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.004	B	0.002	B	0.007	N	1.000	N	1.04	L	1.58	T	-1.046	T	0.048	T	0.097	0.077	4.415	-6.67	-0.846	-0.865	6.407	0.006	0.00587993593899	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1038239455	1.234e-05	1.368e-05	8.185e-06	1.654e-05	3.493e-05	7.71e-06	6.36e-06	9.28e-06	4.57e-06	2.996e-05	0	0	0	0	0	1.081e-05	3.319e-05	3.493e-05	2.627e-05	2.626e-05	1.284e-05	4.034e-05	5.878e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.878e-05	0	0	0.192	0.20988	T	0.17	0.30436	T	0.004	0.12183	B	0.002	0.06944	B	0.006988	0.01149	N	2.948320	1	0.08975	N	.	.	.	1.58	0.29085	T	-1.0	0.26422	N	0.062	0.03392	-1.0465	0.15389	T	0.048	0.20592	T	10	0.063417435	0.08259	T	0.00588	0.15310	T	0.006	0.00375	0.377	0.39156	0.110078149338	0.10416	0.2908656067395222	0.28999	0.0879923635883	0.09938	0.330812811852	0.15057	T	0.03617	0.24001	T	-0.328328	0.06238	T	-0.709397	0.05326	T	0.0259711164981127	0.01402	T	0.361564	0.08348	T	0.03382224	0.03677	0.03081227	0.01585	0.03382224	0.03677	0.03081227	0.01585	-4.083	0.25039	T	.	.	0.064	0.01762	B	.	.	-0.326894	0.02501	0.294	0.44916794460638471	0.03488	0.02365	0.06735	N	AEFDBCI	0.034856	0.04391	N	-1.54269945397669	0.01577	0.06892698	-1.6336256909375	0.01463	0.06616966	0.993346581677189	0.33179	0.695654	0.57023	0	0.577304	0.33150	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.95	-6.67	0.01618	-0.836000	0.04489	-3.122000	0.03043	-0.850000	0.02721	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4281:0.231:0.3409	6.407	0.20873	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2073.98	39	chr19	4268590	.	C	T	2073.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.543;DP=974;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=0.459;SOR=0.685	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,117,1755	20	0	1	0
chr19	4284792	4284792	A	T	exonic	SHD	.	nonsynonymous SNV	SHD:NM_020209:exon4:c.A604T:p.S202C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.983	D	0.765	P	0.006	N	1.000	N	0.345	N	1.46	T	-1.063	T	0.062	T	0.236	3.444	17.66	1.15	-0.024	1.243	7.183	0.068	0.0145245419453	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.057	0.55341	T	0.981	0.59675	D	0.765	0.56630	P	0.006182	0.32207	N	0.351137	1	0.08975	N	1.445	0.36358	L	1.46	0.32238	T	-2.95	0.61580	D	0.176	0.23884	-1.0628	0.11069	T	0.062	0.25887	T	10	0.13862687	0.26362	T	0.014525	0.34707	T	0.068	0.19811	0.289	0.24921	0.572140347788	0.56880	0.33242635464220055	0.33155	0.153530601654	0.17321	0.491784572601	0.37686	T	0.428504	0.77762	T	-0.196524	0.21306	T	-0.520069	0.20287	T	0.776896178722382	0.44858	D	0.740526	0.36682	T	0.13851285	0.32031	0.16759202	0.38656	0.13851285	0.32031	0.16759202	0.38655	-6.541	0.50602	T	.	.	0.071	0.10979	B	.;.	.;.	3.660640	0.52006	23.2	0.9864945795336868	0.44164	0.72112	0.35309	D	ALL	0.279484	0.39353	N	-0.0562763379718685	0.39321	2.317005	-0.0937528783606843	0.35647	2.064897	0.998190212832151	0.36560	0.59774	0.34471	0	0.596491	0.49125	0	0.459711	0.06710	0	0.562822	0.20929	0	.	.	4.44	1.15	0.19876	1.586000	0.36221	2.596000	0.33495	0.691000	0.84096	0.987000	0.36337	0.999000	0.35428	0.988000	0.63387	0.7018:0.0:0.2982:0.0	7.183	0.24957	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1128.98	33	chr19	4284792	.	A	T	1128.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.300e-02;DP=774;ExcessHet=0.0000;FS=1.759;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.69;ReadPosRankSum=0.444;SOR=0.468	GT:AD:DP:GQ:PL	0/1:42,47:89:99:1143,0,1031	20	0	1	0
chr19	4298273	4298273	G	A	exonic	TMIGD2	.	nonsynonymous SNV	TMIGD2:NM_001169126:exon2:c.C119T:p.A40V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.087	B	0.023	B	.	.	1.000	N	-0.55	N	1.92	T	-0.970	T	0.019	T	0.088	-0.886	0.468	1.76	0.111	0.529	5.354	0.019	0.00687570128659	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1292163674	2.057e-06	2.736e-06	2.73e-06	1.378e-06	4.479e-05	5.5e-07	1.5e-07	7.42e-06	2.78e-06	0	4.479e-05	0	0	0	0	8.996e-07	0	0	6.572e-06	6.567e-06	0	1.345e-05	6.547e-05	0	0	.	.	0	0	6.547e-05	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.071	0.24971	B	0.014	0.19966	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	1.92	0.23082	T	-0.1	0.08495	N	0.158	0.16447	-0.9699	0.37220	T	0.019	0.07753	T	9	0.030538708	0.01181	T	0.006876	0.18177	T	0.019	0.03383	0.308	0.27967	0.170165803431	0.16609	0.3335020927703364	0.33263	0.705363785392	0.61389	0.303542733192	0.10931	T	0.003438	0.02849	T	-0.464112	0.00926	T	-0.728594	0.04391	T	0.0245650446428012	0.01216	T	0.50065	0.15660	T	0.02157564	0.00768	0.036952127	0.03245	0.02157564	0.00768	0.036952127	0.03244	-4.53	0.32447	T	.	.	0.162	0.37858	B	.;.	.;.	0.250765	0.06301	2.759	0.72920344810468629	0.10143	0.00060	0.00440	N	AEFDBI	0.019671	0.00705	N	-1.25654489139142	0.04214	0.1897563	-1.21573654688105	0.05656	0.2701275	0.0919888081450178	0.16148	0.554377	0.28877	0	0.588066	0.40923	0	0.505578	0.09266	0	0.562822	0.20929	0	.	.	4.09	1.76	0.23776	0.545000	0.22976	1.320000	0.25596	0.613000	0.49114	0.000000	0.06391	0.000000	0.08366	0.042000	0.14466	0.7373:0.0:0.2627:0.0	5.354	0.15353	946	0.12043	.;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1866.98	35	chr19	4298273	.	G	A	1866.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.560e-01;DP=971;ExcessHet=0.0000;FS=5.084;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.13;ReadPosRankSum=-2.910e-01;SOR=0.518	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr19	4327157	4327157	A	C	exonic	STAP2	.	nonsynonymous SNV	STAP2:NM_001013841:exon8:c.T730G:p.F244V	.	.	413	1106	2	1	0	4	0.00180505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.998	D	0.000	D	0.971	D	2.33	M	.	.	-0.118	T	0.408	T	0.575	3.012	16.05	5.09	1.924	2.665	11.284	0.450	0.239892465316	7.7e-05	0.000199681	0.0003	0	0	0	0	0.0002	0	0.0014	0.0002523	39	154602	rs374601600	0.0002	0.0002	0.0001	0.0003	0.0019	0.0002	0.0002	0.0017	0.0016	5.974e-05	0.0003	0.0019	0	1.872e-05	0.0005	4.227e-05	0.0003	0.0019	0.0002	0.0002	8.994e-05	0.0003	0.0019	0.0002	0.0001	0.0010	0.0007	0	0	0.0005	0.0026	0	0	0	5.88e-05	0.0014	0.0019	.	.	.	0.001	0.83351	D	0.997	0.70673	D	0.998	0.88582	D	0.000025	0.55875	D	0.156294	0.97137	0.38866	D	3.1	0.87590	M	1.27	0.58613	T	.	.	.	0.708	0.71143	-0.1179	0.79683	T	0.408	0.75734	T	9	0.08193061	0.13467	T	0.239892	0.88650	D	.	.	.	.	0.544825121038	0.54136	0.5811295018992046	0.58041	1.07892995457	0.77079	0.530185699463	0.43060	T	0.745378	0.92981	D	-0.297609	0.08887	T	-0.207055	0.53975	T	0.176572318776576	0.19016	T	0.757724	0.38135	T	0.6420005	0.74938	0.54137087	0.73493	0.6420005	0.74939	0.54137087	0.73494	-13.465	0.91188	D	.	.	0.783	0.77998	P	.;.;.	.;.;.	3.934710	0.57533	23.9	0.9859621826791557	0.43440	0.33847	0.24927	N	AEFDBCI	0.555515	0.56592	D	0.468651608486149	0.65269	4.801	0.372710269846863	0.59888	4.17059	0.999999952599277	0.74766	0.766844	0.99359	0	0.662677	0.63036	0	0.52208	0.10781	0	0.554799	0.18163	0	.	.	5.09	5.09	0.68647	2.000000	0.40435	8.982000	0.78494	0.740000	0.86194	0.999000	0.42656	1.000000	0.68203	0.045000	0.14751	1.0:0.0:0.0:0.0	11.284	0.48448	934	0.15400	.;STAP2, SH2 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2564.98	37	chr19	4327157	.	A	C	2564.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.483e+00;DP=946;ExcessHet=0.0000;FS=5.159;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.36;ReadPosRankSum=0.472;SOR=0.432	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1446	20	0	1	0
chr19	4328687	4328687	T	C	exonic	STAP2	.	nonsynonymous SNV	STAP2:NM_001013841:exon6:c.A578G:p.Q193R	.	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.822	P	0.709	P	0.000	U	0.998	D	2.33	M	.	.	-0.314	T	0.341	T	0.709	3.412	17.53	4.47	1.654	4.033	11.732	0.314	0.311539714638	.	.	0.0006	0	0	0	0	7.261e-05	0.0024	0.0024	0.000194	30	154602	rs755997585	0.0001	0.0001	5.865e-05	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	0	0	0	0	2.237e-05	0	1.15e-05	5.673e-05	0.0018	6.786e-05	6.72e-05	6.631e-05	6.948e-05	0.0016	3.625e-05	2.795e-05	0.0008	0.0005	0	0	0	0	0.0002	0	0	2.994e-05	0	0.0016	.	.	.	0.0	0.92824	D	0.822	0.45767	P	0.709	0.54472	P	0.000000	0.84330	U	0.000000	0.997875	0.44275	D	2.77	0.80896	M	1.55	0.54149	T	.	.	.	0.822	0.81758	-0.3136	0.74603	T	0.341	0.70688	T	9	0.29356146	0.46930	T	0.31154	0.91200	D	.	.	.	.	0.504357364658	0.50072	0.7592584248365785	0.75873	0.976763722486	0.73591	0.548436164856	0.45637	T	0.756603	0.93372	D	-0.227793	0.16941	T	-0.106461	0.62893	T	0.279473833623046	0.24149	T	0.791221	0.43725	T	0.6440041	0.75044	0.62360483	0.78065	0.6440041	0.75045	0.62360483	0.78066	-10.374	0.76473	D	.	.	0.556	0.67060	A	.;.	.;.	3.913299	0.57078	23.8	0.98157034519179709	0.38738	0.32003	0.24478	N	ALL	0.631943	0.61274	D	0.150841502445081	0.48852	3.092392	0.0771912684438208	0.43405	2.642836	0.999999999999927	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.47	4.47	0.53770	2.417000	0.44307	5.794000	0.49890	0.592000	0.32167	1.000000	0.71638	1.000000	0.68203	0.627000	0.32078	0.0:0.0:0.0:1.0	11.732	0.51011	934	0.15400	.;SH2 domain|STAP2, SH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	542.98	34	chr19	4328687	.	T	C	542.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.063;DP=743;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=0.647;SOR=0.760	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1103	20	0	1	0
chr19	4343827	4343829	GGC	-	exonic	MPND	.	nonframeshift deletion	MPND:NM_001159846:exon2:c.127_129del:p.G46del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1328748932	9.558e-07	2.668e-05	0	2.014e-06	4.412e-05	0	0	.	.	0	0	0	4.412e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	33.98	15	chr19	4343826	.	TGGC	T	33.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.428e+00;DP=307;ExcessHet=0.0000;FS=2.963;InbreedingCoeff=-0.0270;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.43;ReadPosRankSum=-3.950e-01;SOR=0.148	GT:AD:DP:GQ:PL	0/0:12,0:12:36:0,36,321	20	0	1	0
chr19	4352947	4352947	G	T	exonic	MPND	.	nonsynonymous SNV	MPND:NM_001159846:exon4:c.G582T:p.E194D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.704	P	0.27	B	0.037	N	0.956	N	1.59	L	.	.	-1.065	T	0.057	T	0.104	1.734	11.76	-1.39	-0.148	0.651	2.651	0.038	0.0138325809972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.26519	T	0.142	0.34959	T	0.704	0.41950	P	0.197	0.39872	B	0.037255	0.24424	N	0.416661	0.974732	0.26329	N	1.98	0.53716	M	.	.	.	-1.44	0.35792	N	0.293	0.42050	-1.0645	0.10666	T	0.057	0.23828	T	9	0.097961634	0.17678	T	0.013833	0.33526	T	0.038	0.09825	0.156	0.05964	0.274366138417	0.27033	0.2901388817088245	0.28926	0.380299228091	0.39395	0.76660567522	0.76915	T	0.006519	0.05951	T	-0.197913	0.21106	T	-0.522065	0.20086	T	0.461189955472946	0.31208	T	0.673733	0.28342	T	0.071845874	0.15937	0.06533916	0.13229	0.071845874	0.15936	0.06533916	0.13229	-5.18	0.38738	T	.	.	0.094	0.20586	B	.;.;.;.	.;.;.;.	1.486606	0.19127	14.11	0.98958318334679385	0.49285	0.40216	0.26387	N	AEFGBHCI	0.114654	0.22574	N	-0.538384469279072	0.20850	1.102198	-0.537730250091255	0.21132	1.141754	0.00291933165405422	0.09795	0.696267	0.57585	0	0.637152	0.57089	0	0.779548	0.98927	0	0.683535	0.66460	0	.	.	3.55	-1.39	0.08526	0.791000	0.26577	0.718000	0.20989	0.487000	0.22268	1.000000	0.71638	0.997000	0.33255	0.929000	0.46594	0.4338:0.0:0.351:0.2151	2.651	0.04694	940	0.13648	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	833.98	66	chr19	4352947	.	G	T	833.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.470e-01;DP=861;ExcessHet=0.0000;FS=2.021;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=1.62;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,103,985	20	0	1	0
chr19	4363410	4363410	C	T	exonic	SH3GL1	.	nonsynonymous SNV	SH3GL1:NM_001199943:exon6:c.G544A:p.V182M	Leukemia, acute myeloid, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2352473	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.948	P	0.261	B	0.000	U	0.988	D	1.155	L	1.53	T	-1.054	T	0.060	T	0.44	2.443	14.13	4.67	2.141	2.966	16.527	0.110	0.02222854937	7.7e-05	.	0.0001	0.0012	0.0004	0	0	0	0	0	7.12e-05	11	154602	rs369234045	4.66e-05	4.652e-05	5.317e-05	3.995e-05	0.0010	3.734e-05	3.417e-05	0.0007	0.0006	0.0010	0.0001	0	0	0	0	2.07e-05	8.298e-05	2.329e-05	0.0003	0.0003	0.0002	0.0004	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	0.0004	0	0	0	0	2.94e-05	0	0	0.053	0.39097	T	0.089	0.40426	T	0.948	0.53620	P	0.261	0.39516	B	0.000000	0.84330	U	0.000000	0.987806	0.40652	D	1.265	0.31966	L	1.53	0.30401	T	-0.78	0.21644	N	0.366	0.42541	-1.0544	0.13198	T	0.060	0.25237	T	10	0.09454173	0.16818	T	0.022229	0.45097	T	0.110	0.31079	.	.	0.591671430083	0.58844	0.4315432925656547	0.43071	0.513051417295	0.49314	0.73152077198	0.71728	T	0.095355	0.39604	T	-0.38695	0.02814	T	-0.40913	0.32325	T	0.0254089062632453	0.01327	T	0.877212	0.59782	D	0.30621287	0.53455	0.24165955	0.49569	0.30621287	0.53455	0.24165955	0.49567	-7.45	0.60762	T	.	.	0.183	0.48039	B	.;.;.	.;.;.	3.216832	0.43812	21.8	0.99615059479374646	0.75052	0.89511	0.50022	D	AEFDGBHCI	0.358005	0.44883	N	0.150849211676742	0.48852	3.092428	0.200043937056231	0.49850	3.183386	0.999999999999992	0.74766	0.77792	0.99625	0	0.702456	0.74545	0	0.854111	0.99894	0	0.711	0.71501	0	.	.	4.67	4.67	0.58089	3.235000	0.51027	4.883000	0.45686	0.518000	0.23583	0.995000	0.38783	1.000000	0.68203	0.311000	0.24761	0.0:1.0:0.0:0.0	16.527	0.84182	878	0.29785	BAR domain|BAR domain|BAR domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	917.98	35	chr19	4363410	.	C	T	917.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.365e+00;DP=758;ExcessHet=0.0000;FS=3.262;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=-1.410e-01;SOR=0.392	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1311	20	0	1	0
chr19	4402780	4402780	G	T	exonic	CHAF1A	.	nonsynonymous SNV	CHAF1A:NM_005483:exon1:c.G18T:p.E6D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.884	P	0.337	B	.	.	0.996	N	1.7	L	0.46	T	-0.944	T	0.137	T	0.186	3.116	16.41	3.28	1.176	0.824	7.003	0.065	0.589080431548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.24955	T	0.245	0.92824	T	0.884	0.48618	P	0.337	0.42281	B	.	.	.	.	0.99648	0.23000	N	1.955	0.52871	M	0.46	0.56281	T	-0.63	0.18459	N	0.138	0.13626	-0.9444	0.41911	T	0.137	0.45394	T	9	0.29641056	0.47206	T	0.58908	0.96344	D	0.065	0.18881	0.105	0.01753	0.554306714541	0.55088	0.07627587326054276	0.07563	0.197662092278	0.22136	0.829808712006	0.86532	D	0.033516	0.22947	T	-0.144972	0.29101	T	-0.446019	0.28136	T	0.490127116441727	0.32269	T	0.442656	0.13966	T	0.12533371	0.29384	0.26069233	0.51835	0.12533371	0.29384	0.26069233	0.51834	-3.624	0.18204	T	.	.	0.102	0.32178	B	.;.	.;.	2.513978	0.32476	19.05	0.98177472073941874	0.38916	0.71218	0.34919	D	AEFDGBHCI	0.052364	0.09339	N	0.121826513671051	0.47482	2.973341	0.113204131266011	0.45224	2.789322	0.999999999978128	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.32	3.28	0.36691	0.953000	0.28759	2.097000	0.30581	0.581000	0.30040	0.833000	0.30177	1.000000	0.68203	0.718000	0.34707	0.0933:0.0:0.7363:0.1704	7.003	0.23999	840	0.37365	Chromatin assembly factor 1 subunit A, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05556	31.12	6	chr19	4402780	.	G	T	31.12	.	AC=2;AF=0.056;AN=36;DP=120;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5228;MLEAC=1;MLEAF=0.028;MQ=60.00;QD=15.56;SOR=0.693	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,74	17	1	0	3
chr19	4432126	4432126	G	A	exonic	CHAF1A	.	nonsynonymous SNV	CHAF1A:NM_005483:exon12:c.G2122A:p.A708T,	.	.	381	1134	7	0	0	7	0.00307692	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.735	P	0.028	B	.	.	1.000	N	-0.255	N	1.81	T	-0.960	T	0.015	T	0.032	0.154	4.829	-9.69	-2.159	-0.241	2.399	0.079	0.00664605484425	0.0004	0.000599042	0.0007	0.0004	0.0002	0	0	0.0007	0.0011	0.0021	0.0006792	105	154602	rs45499793	0.0007	0.0007	0.0007	0.0008	0.0026	0.0007	0.0007	0.0019	0.0018	0.0001	0.0003	7.652e-05	5.038e-05	1.878e-05	0.0026	0.0007	0.0008	0.0022	0.0006	0.0006	0.0007	0.0005	0.0017	0.0005	0.0005	0.0008	0.0007	0.0002	0	0.0006	0	0	0	0	0.0009	0.0014	0.0017	0.849	0.02746	T	0.712	0.05488	T	0.735	0.42814	P	0.028	0.21332	B	.	.	.	.	1	0.08975	N	-1.06	0.01056	N	1.81	0.25182	T	-0.09	0.08340	N	0.126	0.11912	-0.9603	0.39124	T	0.015	0.05946	T	9	0.00856483	0.00194	T	0.006646	0.17529	T	0.079	0.23065	.	.	0.449421072434	0.44565	0.29787784503030773	0.29700	0.225725488836	0.25122	0.294832110405	0.09633	T	0.024845	0.18695	T	-0.697951	0.00038	T	-0.781502	0.02408	T	0.00823556504554957	0.00099	T	0.745225	0.36553	T	0.017637555	0.00289	0.074069686	0.16166	0.017637555	0.00289	0.074069686	0.16166	-1.205	0.01258	T	.	.	0.072	0.04316	B	.	.	-0.472947	0.01955	0.168	0.80632255454106083	0.13295	0.08653	0.14552	N	AEFDGBHCI	0.044105	0.07055	N	-1.45535742582328	0.02175	0.09574909	-1.59282021095231	0.01699	0.07718148	0.999999999993184	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.84	-9.69	0.00438	-0.231000	0.09081	-0.603000	0.08260	-1.568000	0.00938	0.000000	0.06391	0.000000	0.08366	0.193000	0.21690	0.2251:0.1073:0.4111:0.2565	2.399	0.04128	825	0.40060	Chromatin assembly factor 1 subunit A, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1142.98	33	chr19	4432126	.	G	A	1142.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.379e+00;DP=839;ExcessHet=0.0000;FS=0.760;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.91;ReadPosRankSum=-1.724e+00;SOR=0.601	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr19	4433154	4433154	G	A	exonic	CHAF1A	.	nonsynonymous SNV	CHAF1A:NM_005483:exon13:c.G2288A:p.R763Q,	.	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.559	P	0.044	B	.	.	0.757	D	0.46	N	1.44	T	-1.033	T	0.034	T	0.076	1.449	10.79	3.09	0.446	2.474	5.814	0.092	0.00813085509188	0.0017	0.00119808	0.0010	0.0024	0.0003	0	0	0.0008	0.0011	0.0023	0.0009702	150	154602	rs115461571	0.0012	0.0012	0.0012	0.0013	0.0032	0.0012	0.0012	0.0027	0.0025	0.0032	0.0003	0	0	5.625e-05	0.0009	0.0012	0.0008	0.0026	0.0013	0.0013	0.0014	0.0011	0.0029	0.0011	0.0011	0.0022	0.0021	0.0026	0	0.0005	0	0.0002	0	0	0.0009	0.0005	0.0029	0.495	0.07870	T	0.87	0.03314	T	0.559	0.38332	P	0.044	0.24394	B	.	.	.	.	0.756755	0.33991	D	1.11	0.28643	L	1.44	0.32722	T	-0.56	0.17003	N	0.186	0.20262	-1.0330	0.19490	T	0.034	0.14726	T	9	0.011091024	0.00244	T	0.008131	0.21547	T	0.092	0.26621	.	.	0.521601789199	0.51804	0.26881349841204827	0.26794	0.247651168362	0.27319	0.231635138392	0.02091	T	0.022199	0.17156	T	-0.592972	0.00161	T	-0.628218	0.10550	T	0.00569897016772493	0.00062	T	0.860114	0.55285	D	0.035497636	0.04190	0.108564064	0.26153	0.035497636	0.04190	0.108564064	0.26152	-2.227	0.04173	T	.	.	0.066	0.02285	B	.	.	2.153823	0.27432	17.46	0.98502756966827276	0.42240	0.57910	0.30501	D	AEFGBCI	0.076165	0.15316	N	-0.213003287981331	0.32600	1.840222	-0.128477567451202	0.34247	1.967863	0.999972136790529	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.33	3.09	0.34677	2.496000	0.45006	3.791000	0.39830	0.676000	0.76740	0.967000	0.34061	1.000000	0.68203	0.963000	0.52385	0.5575:0.0:0.4425:0.0	5.814	0.17742	825	0.40060	Chromatin assembly factor 1 subunit A, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1776.98	35	chr19	4433154	.	G	A	1776.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.867;DP=827;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.57;ReadPosRankSum=-1.951e+00;SOR=0.758	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr19	4446624	4446624	C	T	exonic	UBXN6	.	nonsynonymous SNV	UBXN6:NM_001171091:exon8:c.G637A:p.V213M	.	.	398	1114	9	1	0	11	0.00491291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.955	D	0.007	N	0.846	D	2.39	M	1.69	T	-0.843	T	0.149	T	0.447	2.077	12.90	-1.19	-0.036	0.653	2.320	0.120	0.030847923397	0.0013	0.000399361	0.0014	0.0007	0.0018	0.0001	0.0006	0.0016	0.0093	0.0010	0.0013519	209	154602	rs141014666	0.0013	0.0013	0.0013	0.0014	0.0345	0.0013	0.0013	0.0306	0.0291	0.0012	0.0026	0.0038	7.559e-05	0.0016	0.0345	0.0011	0.0024	0.0010	0.0015	0.0015	0.0013	0.0016	0.0036	0.0013	0.0012	0.0028	0.0026	0.0006	0	0.0036	0.0046	0	0.0012	0.0408	0.0012	0.0076	0.0002	0.006	0.61437	D	0.016	0.60972	D	0.999	0.77913	D	0.929	0.69585	D	0.007040	0.31644	N	0.309310	0.767315	0.35137	D	2.65	0.77586	M	1.69	0.36146	T	-1.61	0.38734	N	0.591	0.61087	-0.8427	0.52466	T	0.149	0.47540	T	10	0.033210248	0.01491	T	0.030848	0.53068	D	0.120	0.33359	.	.	0.531096826648	0.52758	0.3963421874015801	0.39549	0.234667122416	0.26005	0.559426307678	0.47188	T	0.046005	0.27293	T	-0.409673	0.01998	T	-0.365858	0.37374	T	0.0349448666314765	0.02798	T	0.929607	0.73996	D	0.09260657	0.21731	0.102596164	0.24594	0.09260657	0.21730	0.102596164	0.24594	-7.767	0.60633	D	.	.	0.190	0.40905	B	.;.	.;.	2.715746	0.35508	19.92	0.9962136234845973	0.75413	0.27998	0.23433	N	AEFDGBHCI	0.158304	0.28394	N	-0.184897671970675	0.33763	1.919219	-0.44594471491079	0.23664	1.291674	0.984896099831351	0.30793	0.67177	0.52595	0	0.702456	0.74545	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	5.2	-1.19	0.09091	0.480000	0.21954	0.576000	0.19656	0.549000	0.26987	0.053000	0.21524	0.160000	0.23254	0.111000	0.18785	0.2196:0.3286:0.3087:0.1431	2.320	0.03950	825	0.40060	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2051.98	42	chr19	4446624	.	C	T	2051.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=837;ExcessHet=0.0000;FS=3.427;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.96;ReadPosRankSum=0.700;SOR=0.437	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,993	20	0	1	0
chr19	4501975	4501975	C	T	exonic	HDGFL2	.	nonsynonymous SNV	HDGFL2:NM_001001520:exon16:c.C1981T:p.R661W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.99	D	0.353	B	0.907	N	1.000	N	0.805	L	0.76	T	-0.979	T	0.107	T	0.307	2.839	15.46	4.48	2.036	2.786	12.664	0.096	0.039416342392	.	.	7.891e-05	0	0	0	0	0	0	0.0002	6.5e-06	1	154602	rs753630006	2.354e-05	2.805e-05	2.175e-05	2.537e-05	0.0001	1.703e-05	1.458e-05	5.307e-05	3.825e-05	0	0	0	0.0001	9.777e-05	0	1.31e-05	3.54e-05	0.0001	5.259e-05	5.254e-05	5.14e-05	5.384e-05	0.0006	2.558e-05	1.831e-05	0.0002	9.003e-05	0	0	0	0	0.0004	9.414e-05	0	2.941e-05	0	0.0006	.	.	.	0.01	0.74150	D	.	.	.	.	.	.	0.907331	0.07393	N	1.058350	0.999999	0.08975	N	0.975	0.24501	L	.	.	.	.	.	.	0.308	0.36884	-0.9794	0.35139	T	0.107	0.38955	T	10	0.13629308	0.25931	T	0.039416	0.58796	D	.	.	.	.	0.110392049598	0.10638	0.045575637916317996	0.04501	.	.	0.338731706142	0.16248	T	0.02501	0.18784	T	-0.0821665	0.39361	T	-0.355803	0.38538	T	0.554393231868744	0.34642	D	0.867613	0.56877	D	0.074596435	0.16751	0.058631267	0.10868	0.074596435	0.16751	0.058631267	0.10867	-7.038	0.54310	T	.	.	0.092	0.66639	B	.;.;.	.;.;.	3.483243	0.48648	22.6	0.9895171034358009	0.49150	0.27541	0.23306	N	AEFDBI	0.166188	0.29274	N	-0.231479058736437	0.31848	1.790015	-0.333924759492304	0.27011	1.495887	0.850466440412902	0.25034	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.48	4.48	0.53973	4.783000	0.62096	3.235000	0.36931	0.596000	0.33519	0.249000	0.24839	0.084000	0.22431	0.016000	0.10718	0.0:1.0:0.0:0.0	12.664	0.56194	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	673.98	37	chr19	4501975	.	C	T	673.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.000e-01;DP=843;ExcessHet=0.0000;FS=5.043;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.37;ReadPosRankSum=-5.760e-01;SOR=0.306	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1187	20	0	1	0
chr19	4510571	4510571	C	A	exonic	PLIN4	.	nonsynonymous SNV	PLIN4:NM_001367868:exon5:c.G3389T:p.G1130V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.982	D	0.781	P	0.446	N	1.000	N	0.695	N	3.68	T	-0.978	T	0.021	T	0.23	1.399	10.61	1.54	0.109	-0.785	6.215	0.041	0.0225427945348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.2	0.28120	T	0.982	0.60036	D	0.781	0.57337	P	0.446490	0.04790	N	1.488490	1	0.08975	N	0.75	0.19020	N	3.68	0.04151	T	-1.61	0.38734	N	0.175	0.19728	-0.9784	0.35368	T	0.021	0.08917	T	10	0.14043462	0.26695	T	0.022543	0.45438	T	0.041	0.10877	0.391	0.41443	0.197625483188	0.19356	0.19235544813659036	0.19153	.	.	0.23962546885	0.02757	T	0.047518	0.27747	T	-0.285174	0.10127	T	-0.647409	0.09137	T	0.103620253503323	0.12751	T	0.40486	0.10377	T	0.0697553	0.15308	0.08512944	0.19634	0.0697553	0.15307	0.08512944	0.19633	-4.161	0.26185	T	.	.	0.096	0.15430	B	.;.	.;.	1.128916	0.15156	11.63	0.93941573488969288	0.23997	0.04794	0.10511	N	AEFDBCI	0.038983	0.05596	N	-0.654379634604724	0.17333	0.8910067	-0.839543804959705	0.13539	0.7029028	9.74886565965821E-4	0.08079	0.582742	0.33608	0	0.759151	0.99529	0	0.61531	0.40942	0	0.645665	0.59343	0	.	.	3.85	1.54	0.22290	-0.429000	0.07051	0.123000	0.14943	-0.411000	0.05262	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2048:0.5773:0.2179:0.0	6.215	0.19864	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1313.98	104	chr19	4510571	.	C	A	1313.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.296;DP=1469;ExcessHet=0.0000;FS=3.811;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.41;ReadPosRankSum=-1.682e+00;SOR=1.144	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1073	20	0	1	0
chr19	4511387	4511387	G	A	exonic	PLIN4	.	nonsynonymous SNV	PLIN4:NM_001367868:exon5:c.C2573T:p.A858V,	.	.	416	1100	5	1	0	7	0.00317173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.002	B	0.01	B	0.039	N	1.000	N	0.14	N	3.98	T	-0.949	T	0.008	T	0.118	-1.003	0.256	2.12	0.579	0.277	4.420	0.029	0.0180833010283	.	.	0.0057	0.0091	0.0077	0.0014	0.0052	0.0056	0.0056	0.0051	0.0001682	26	154602	rs771162067	2.312e-05	0.0011	1.673e-05	2.956e-05	0.0003	1.649e-05	1.45e-05	0.0002	0.0001	0.0003	0.0002	0	0	1.909e-05	0	1.099e-05	3.41e-05	1.187e-05	0.0004	0.0069	0.0003	0.0005	0.0013	0.0003	0.0003	0.0008	0.0006	0.0009	0	0.0013	0	0	0.0009	0	4.971e-05	0.0006	0	1.0	0.00964	T	0.281	0.21612	T	0.002	0.09854	B	0.01	0.14941	B	0.039027	0.01857	N	3.264740	1	0.08975	N	0.69	0.16971	N	3.98	0.03297	T	-0.02	0.07299	N	0.099	0.08088	-0.9492	0.41109	T	0.008	0.02760	T	10	0.007909894	0.00180	T	0.018083	0.40021	T	0.029	0.06676	.	.	0.0138822411134	0.00435	0.014470382677492866	0.01404	.	.	0.237904638052	0.02605	T	0.018477	0.14891	T	-0.350218	0.04714	T	-0.740841	0.03855	T	0.00153011113623067	0.00015	T	0.59544	0.22079	T	0.023214987	0.01043	0.028456092	0.01083	0.023214987	0.01042	0.028456092	0.01082	-6.78	0.52410	T	.	.	0.081	0.09723	B	.;.	.;.	-0.040328	0.04013	0.916	0.22755446620541564	0.00930	0.00611	0.02712	N	AEFGBCI	0.032744	0.03755	N	-1.23996584884986	0.04433	0.2000659	-1.21280270933194	0.05704	0.2725102	7.38268259921625E-4	0.07723	0.676563	0.55306	0	0.550933	0.16991	0	0.673471	0.61138	0	0.604944	0.38103	0	.	.	4.46	2.12	0.26372	-0.764000	0.04841	-1.935000	0.04470	-0.645000	0.04412	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6389:0.0:0.3611:0.0	4.420	0.10901	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	665.11	342	chr19	4511387	.	G	A	665.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.84;DP=7427;ExcessHet=0.1072;FS=56.298;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=57.94;MQRankSum=-2.183e+00;QD=2.25;ReadPosRankSum=-3.490e-01;SOR=4.145	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:462,0:462:99:.:.:0,120,1800	19	0	2	0
chr19	4511388	4511388	C	G	exonic	PLIN4	.	nonsynonymous SNV	PLIN4:NM_001367868:exon5:c.G2572C:p.A858P,	.	.	418	1098	5	1	0	7	0.00317749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.951	P	0.644	P	0.039	U	1.000	N	1.24	L	3.86	T	-0.953	T	0.019	T	0.211	2.568	14.55	0.583	0.337	-1.021	9.036	0.073	0.0423553888564	.	.	0.0057	0.0091	0.0077	0.0016	0.0052	0.0056	0.0056	0.0051	6.5e-06	1	154602	rs200538852	1.329e-05	0.0008	1.114e-05	1.547e-05	0.0003	8.5e-06	6.85e-06	0.0002	0.0001	0.0003	0.0001	0	7.744e-05	1.907e-05	0	0	0	0	0.0003	0.0064	0.0003	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	0.0007	0	0.0008	0	0	0.0005	0	4.88e-05	0.0006	0	0.172	0.22660	T	0.227	0.25362	T	0.951	0.53992	P	0.644	0.52249	P	0.039027	0.01857	U	3.264740	1	0.08975	N	1.24	0.30952	L	3.86	0.03624	T	-1.01	0.26639	N	0.175	0.21056	-0.9533	0.40398	T	0.019	0.07846	T	10	0.008268565	0.00187	T	0.042355	0.60420	D	0.073	0.21317	.	.	0.0551355673512	0.04727	0.13849248430646027	0.13772	.	.	0.297758728266	0.10068	T	0.031954	0.22272	T	-0.304874	0.08207	T	-0.675707	0.07248	T	0.0237859162056212	0.01118	T	0.768423	0.39759	T	0.114094384	0.26938	0.089574106	0.20955	0.114094384	0.26938	0.089574106	0.20954	-10.234	0.75300	D	.	.	0.422	0.60772	A	.;.	.;.	0.262681	0.06410	2.878	0.99195560496892443	0.55112	0.00614	0.02721	N	AEFGBCI	0.031897	0.03500	N	-0.699461386573928	0.16038	0.8135784	-0.876646511485983	0.12648	0.6518433	4.09036700427026E-4	0.06860	0.676563	0.55306	0	0.550933	0.16991	0	0.673471	0.61138	0	0.604944	0.38103	0	.	.	4.46	0.583	0.16599	-2.326000	0.01195	-20.000000	0.00162	-1.603000	0.00891	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0948:0.3022:0.603:0.0	9.036	0.35447	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	578.11	342	chr19	4511388	.	C	G	578.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.79;DP=7426;ExcessHet=0.1072;FS=53.914;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.02;MQRankSum=-2.183e+00;QD=1.97;ReadPosRankSum=-1.400e-01;SOR=4.067	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:462,0:462:99:.:.:0,120,1800	19	0	2	0
chr19	4511391	4511391	T	C	exonic	PLIN4	.	nonsynonymous SNV	PLIN4:NM_001367868:exon5:c.A2569G:p.I857V,	.	.	419	1099	3	1	0	5	0.00226963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.0	B	0.001	B	0.626	N	1.000	N	-1.785	N	4.33	T	-0.908	T	0.002	T	0.043	-1.347	0.029	-1.2	-0.033	-1.390	7.981	0.010	0.0420093115461	.	.	0.0010	0.0030	0.0011	0.0006	0.0006	0.0010	0.0023	0.0006	0.0009896	153	154602	rs769492017	4.896e-06	5.587e-05	4.177e-06	5.622e-06	0.0002	2.04e-06	1.31e-06	6.586e-05	4.281e-05	0.0002	4.736e-05	0	0	0	0	0	0	0	0.0001	0.0031	8.078e-05	0.0002	0.0005	7.094e-05	5.61e-05	0.0002	0.0002	0.0002	0	0.0005	0	0	0.0001	0	0	0.0006	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.625798	0.10735	N	0.743246	1	0.08975	N	-0.785	0.01646	N	4.33	0.02363	T	0.11	0.05706	N	0.041	0.01498	-0.9077	0.47133	T	0.002	0.00769	T	10	0.00640589	0.00145	T	0.042009	0.60234	D	0.010	0.01040	.	.	0.0297737177859	0.01360	0.009993915130712043	0.00961	.	.	0.244285747409	0.03190	T	0.014523	0.12349	T	-0.459907	0.00985	T	-0.898401	0.00514	T	0.00450887576918906	0.00048	T	0.305069	0.06017	T	0.029153606	0.02365	0.026259007	0.00706	0.029153606	0.02364	0.026259007	0.00706	-6.391	0.49440	T	.	.	0.080	0.11893	B	.;.	.;.	-1.975924	0.00107	0.002	0.21035539924483851	0.00784	0.00532	0.02463	N	AEFGBCI	0.034009	0.04140	N	-1.67551250975353	0.00932	0.04036694	-1.60183559093136	0.01644	0.07462527	4.62076783483494E-4	0.07066	0.582742	0.33608	0	0.550933	0.16991	0	0.61531	0.40942	0	0.604944	0.38103	0	.	.	4.46	-1.2	0.09062	-2.783000	0.00842	-11.434000	0.00605	-0.894000	0.02369	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4477:0.0:0.5523	7.981	0.29345	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	287.22	342	chr19	4511391	.	T	C	287.22	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.52;DP=7415;ExcessHet=0.0000;FS=34.014;InbreedingCoeff=0.9958;MLEAC=2;MLEAF=0.048;MQ=58.47;MQRankSum=-1.614e+01;QD=26.15;ReadPosRankSum=-5.460e+00;SOR=3.442	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:462,0:462:99:.:.:0,120,1800	20	1	0	0
chr19	4511393	4511398	TTTTGG	-	exonic	PLIN4	.	nonframeshift deletion	PLIN4:NM_001367868:exon5:c.2562_2567del:p.Q855_N856del,	.	.	414	1107	0	1	0	2	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.19e-05	0.0001	0	0	0	4.514e-05	0	6.112e-05	6.5e-06	1	154602	rs774430286	0	4.828e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.994e-06	0.0004	1.367e-05	0	2.876e-05	0	0	.	.	2.876e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	287.18	342	chr19	4511392	.	ATTTTGG	A	287.18	.	AC=2;AF=0.048;AN=42;DP=7392;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.9958;MLEAC=2;MLEAF=0.048;MQ=35.88;QD=31.51;SOR=4.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:462,0:462:99:.:.:0,120,1800	20	1	0	0
chr19	4511563	4511563	C	0	exonic	PLIN4	.	.	.	.	.	463	531	326	1	201	529	0.235971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	17845.03	225	chr19	4511563	.	C	G,*	17845.03	.	AC=5,1;AF=0.179,0.036;AN=28;BaseQRankSum=2.12;DP=9752;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.1556;MLEAC=7,1;MLEAF=0.250,0.036;MQ=59.57;MQRankSum=-4.184e+00;QD=4.80;ReadPosRankSum=-5.230e+00;SOR=0.700	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:384,164,0:548:99:0|1:4511563_C_G:5563,0,15631,6719,16124,22843:4511563	8	0	5	7
chr19	4511566	4511566	A	0	exonic	PLIN4	.	.	.	.	.	415	583	322	1	201	525	0.21745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	16971.48	491	chr19	4511566	.	A	G,*	16971.48	.	AC=5,1;AF=0.227,0.045;AN=22;BaseQRankSum=-9.560e-01;DP=10566;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=8,2;MLEAF=0.364,0.091;MQ=59.53;MQRankSum=-3.775e+00;QD=4.50;ReadPosRankSum=-5.408e+00;SOR=0.715	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:400,163,0:563:99:0|1:4511563_C_G:5473,0,16308,6677,16796,23473:4511563	5	0	5	10
chr19	4511568	4511568	C	0	exonic	PLIN4	.	.	.	.	.	436	567	317	1	201	520	0.219546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	16047.48	490	chr19	4511568	.	C	T,*	16047.48	.	AC=5,1;AF=0.227,0.045;AN=22;BaseQRankSum=-4.580e-01;DP=10596;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=8,2;MLEAF=0.364,0.091;MQ=59.50;MQRankSum=-3.556e+00;QD=4.25;ReadPosRankSum=-5.809e+00;SOR=0.715	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:413,154,0:567:99:0|1:4511563_C_G:5148,0,16880,6391,17342,23733:4511563	5	0	5	10
chr19	4511569	4511569	A	0	exonic	PLIN4	.	.	.	.	.	438	565	317	1	201	520	0.220152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	15602.48	490	chr19	4511569	.	A	G,*	15602.48	.	AC=5,1;AF=0.227,0.045;AN=22;BaseQRankSum=5.73;DP=10604;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=8,2;MLEAF=0.364,0.091;MQ=59.48;MQRankSum=-3.635e+00;QD=4.12;ReadPosRankSum=-5.967e+00;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:418,152,0:570:99:0|1:4511563_C_G:5049,0,17096,6307,17552,23859:4511563	5	0	5	10
chr19	4511586	4511586	A	0	exonic	PLIN4	.	.	.	.	.	414	637	269	1	201	472	0.175405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	8809.48	466	chr19	4511586	.	A	G,*	8809.48	.	AC=5,1;AF=0.227,0.045;AN=22;BaseQRankSum=3.88;DP=10439;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=8,2;MLEAF=0.364,0.091;MQ=59.07;MQRankSum=-2.351e+00;QD=2.30;ReadPosRankSum=-8.743e+00;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:450,104,0:554:99:0|1:4511563_C_G:2977,0,18583,4332,18895,23227:4511563	5	0	5	10
chr19	4511587	4511587	C	0	exonic	PLIN4	.	.	.	.	.	408	646	266	1	201	469	0.171795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	8200.48	466	chr19	4511587	.	C	G,*	8200.48	.	AC=5,1;AF=0.227,0.045;AN=22;BaseQRankSum=2.38;DP=10432;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=8,2;MLEAF=0.364,0.091;MQ=59.03;MQRankSum=-2.455e+00;QD=2.14;ReadPosRankSum=-8.658e+00;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:452,102,0:554:99:0|1:4511563_C_G:2887,0,18673,4248,18979,23227:4511563	5	0	5	10
chr19	4511607	4511607	T	0	exonic	PLIN4	.	.	.	.	.	411	783	127	0	201	328	0.0750148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	239.39	418	chr19	4511607	.	T	C,*	239.39	.	AC=1,1;AF=0.036,0.036;AN=28;BaseQRankSum=6.75;DP=9799;ExcessHet=0.1259;FS=1.507;InbreedingCoeff=0.0559;MLEAC=1,1;MLEAF=0.036,0.036;MQ=57.87;MQRankSum=-6.100e+00;QD=0.16;ReadPosRankSum=-8.626e+00;SOR=0.708	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:461,39,0:500:99:0|1:4511563_C_G:250,0,19240,1638,19357,20995:4511563	12	0	1	7
chr19	4511608	4511608	G	0	exonic	PLIN4	.	.	.	.	.	412	785	124	0	201	325	0.0731995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	196.89	418	chr19	4511608	.	G	A,*	196.89	.	AC=1,1;AF=0.033,0.033;AN=30;BaseQRankSum=2.25;DP=9548;ExcessHet=0.1259;FS=1.507;InbreedingCoeff=0.0930;MLEAC=1,1;MLEAF=0.033,0.033;MQ=57.86;MQRankSum=-6.233e+00;QD=0.13;ReadPosRankSum=-8.347e+00;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:461,38,0:499:99:0|1:4511563_C_G:208,0,19243,1596,19357,20953:4511563	13	0	1	6
chr19	4511635	4511635	C	0	exonic	PLIN4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	177671.52	322	chr19	4511635	.	C	G,*	177671.52	.	AC=25,1;AF=0.833,0.033;AN=30;BaseQRankSum=-7.580e-01;DP=10056;ExcessHet=0.2174;FS=0.730;InbreedingCoeff=0.2169;MLEAC=32,1;MLEAF=1.00,0.033;MQ=57.70;MQRankSum=-7.188e+00;QD=24.86;ReadPosRankSum=1.56;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,417,0:418:99:.:.:13574,1243,0,13576,1250,13583	0	10	4	6
chr19	4511713	4511713	T	0	exonic	PLIN4	.	.	.	.	.	34	3	109	74	6	263	0.977186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8462	139194.31	100	chr19	4511713	.	T	C,*	139194.31	.	AC=22,1;AF=0.846,0.038;AN=26;BaseQRankSum=1.87;DP=8565;ExcessHet=0.0976;FS=2.619;InbreedingCoeff=0.3015;MLEAC=31,1;MLEAF=1.00,0.038;MQ=56.56;MQRankSum=-1.881e+00;QD=32.62;ReadPosRankSum=-5.445e+00;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:429,0,0:429:0:.:.:0,0,0,0,0,0	0	9	3	8
chr19	4511718	4511718	T	0	exonic	PLIN4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6923	139161.99	105	chr19	4511718	.	T	*,C	139161.99	.	AC=1,18;AF=0.038,0.692;AN=26;BaseQRankSum=2.11;DP=8846;ExcessHet=2.2649;FS=2.542;InbreedingCoeff=-0.0055;MLEAC=1,25;MLEAF=0.038,0.962;MQ=56.65;MQRankSum=-5.673e+00;QD=32.12;ReadPosRankSum=0.575;SOR=0.899	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:442,0,0:442:0:.:.:0,0,0,0,0,0	0	0	0	8
chr19	4511934	4511934	-	CGCAGCACCGGTCACCCCACTGCA	exonic	PLIN4	.	nonframeshift insertion	PLIN4:NM_001367868:exon5:c.2025_2026insTGCAGTGGGGTGACCGGTGCTGCG:p.V675_N676insCSGVTGAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.105e-05	3.305e-05	6.872e-06	1.526e-05	3.036e-05	6.54e-06	5.29e-06	7.37e-06	5.77e-06	3.036e-05	0	0	0	0	0	1.271e-05	1.671e-05	0	2.007e-05	2.65e-05	1.305e-05	2.745e-05	6.678e-05	5.34e-06	2.48e-06	.	.	2.48e-05	0	6.678e-05	0	0	0	0	1.482e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2496.94	368	chr19	4511934	.	T	TCGCAGCACCGGTCACCCCACTGCA	2496.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.85;DP=9826;ExcessHet=0.0000;FS=4.919;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.58;MQRankSum=-1.747e+01;QD=3.87;ReadPosRankSum=-8.285e+00;SOR=1.251	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:518,0:518:99:.:.:0,120,1800	20	0	1	0
chr19	4512233	4512233	G	A	exonic	PLIN4	.	nonsynonymous SNV	PLIN4:NM_001367868:exon5:c.C1727T:p.A576V,	.	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.024	B	0.005	B	0.275	N	1.000	N	-0.915	N	4.13	T	-0.922	T	0.004	T	0.029	-0.749	0.820	-0.74	-0.234	.	9.302	0.021	0.0103807921145	.	0.000798722	0.0002	0	0	0	0	7.497e-05	0	0.0013	0.000207	32	154602	rs528441447	7.939e-05	0.0001	4.222e-05	0.0001	0.0012	6.737e-05	6.27e-05	0.0010	0.0009	0	0	0	0	1.877e-05	0	4.498e-06	9.944e-05	0.0012	7.316e-05	9.232e-05	1.299e-05	0.0001	0.0021	4.019e-05	3.162e-05	0.0011	0.0009	0	0	0	0	0	0	0	1.477e-05	0	0.0021	1.0	0.00964	T	0.481	0.11864	T	0.024	0.19075	B	0.005	0.11217	B	0.275422	0.03798	N	1.568620	1	0.08975	N	0.345	0.11182	N	4.13	0.02865	T	0.64	0.02368	N	0.055	0.03283	-0.9222	0.45252	T	0.004	0.01365	T	10	0.009662837	0.00217	T	0.010381	0.26850	T	0.021	0.04004	0.392	0.41606	0.0138822411134	0.00435	0.010294702065459621	0.00990	.	.	0.184595689178	0.00144	T	0.007172	0.06585	T	-0.724576	0.00026	T	-0.878335	0.00668	T	0.00828866567595403	0.00100	T	0.133087	0.01051	T	0.022085667	0.00848	0.039208926	0.03962	0.022085667	0.00848	0.039208926	0.03962	-1.456	0.01676	T	.	.	0.075	0.05623	B	.;.	.;.	-1.530126	0.00277	0.004	0.22435323964616424	0.00902	0.00583	0.02625	N	AEFDBCI	0.032243	0.03604	N	-1.54733782127048	0.01550	0.06771677	-1.49717362435428	0.02368	0.1087769	7.07428038902458E-4	0.07666	0.582742	0.33608	0	0.550933	0.16991	0	0.61531	0.40942	0	0.562822	0.20929	0	.	.	5.15	-0.74	0.10555	-1.643000	0.02106	-10.083000	0.00741	-1.729000	0.00717	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5396:0.0:0.4604:0.0	9.302	0.37013	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	6569.98	299	chr19	4512233	.	G	A	6569.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.091;DP=7044;ExcessHet=0.0000;FS=0.520;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.99;MQRankSum=-9.260e-01;QD=14.38;ReadPosRankSum=0.293;SOR=0.637	GT:AD:DP:GQ:PL	0/0:402,0:402:99:0,120,1800	20	0	1	0
chr19	4512339	4512339	T	C	exonic	PLIN4	.	nonsynonymous SNV	PLIN4:NM_001367868:exon5:c.A1621G:p.S541G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.049	N	1.000	N	-2.445	N	4.56	T	-0.928	T	0.002	T	0.099	-0.625	1.226	2.97	1.163	-0.739	9.417	0.078	0.0179713203817	.	.	4.977e-05	0.0002	8.658e-05	0	0	4.502e-05	0	0	3.88e-05	6	154602	rs749342624	1.327e-05	0.0002	1.39e-05	1.264e-05	0.0011	8.49e-06	6.84e-06	0.0005	0.0003	3.129e-05	4.924e-05	0	0	0	0.0011	8.207e-06	0	1.193e-05	0.0010	0.0071	0.0010	0.0010	0.0017	0.0008	0.0008	0.0013	0.0012	0.0017	0.0031	0.0006	0.0007	0.0003	0.0005	0.0066	0.0007	0	0.0017	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.049403	0.23163	N	0.306229	1	0.08975	N	-1.225	0.00812	N	4.56	0.01933	T	1.8	0.00513	N	0.106	0.09066	-0.9284	0.44371	T	0.002	0.00526	T	10	0.024392366	0.00669	T	0.017971	0.39871	T	0.078	0.22779	.	.	0.0297737177859	0.01360	0.01965828940671712	0.01918	.	.	0.235923826694	0.02435	T	0.006761	0.06189	T	-0.387761	0.02781	T	-0.794768	0.02036	T	0.0261114344934022	0.01421	T	0.0674933	0.00492	T	0.031633087	0.03040	0.045960687	0.06299	0.031633087	0.03039	0.045960687	0.06299	0.865	0.00150	T	.	.	0.047	0.00165	B	.;.	.;.	-0.359574	0.02367	0.259	0.13260958036853626	0.00256	0.00356	0.01829	N	AEFDBCI	0.033756	0.04062	N	-1.53602945640862	0.01618	0.07072448	-1.36755037112785	0.03604	0.168422	0.0222299585153531	0.13414	0.582742	0.33608	0	0.550933	0.16991	0	0.61531	0.40942	0	0.562822	0.20929	0	.	.	5.12	2.97	0.33479	0.306000	0.19030	-9.355000	0.00832	-0.984000	0.01883	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.8277:0.0:0.1723	9.417	0.37693	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	6516.98	299	chr19	4512339	.	T	C	6516.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.886e+00;DP=7100;ExcessHet=0.0000;FS=8.519;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.87;MQRankSum=1.01;QD=18.20;ReadPosRankSum=0.365;SOR=0.606	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:402,0:402:99:.:.:0,120,1800	20	0	1	0
chr19	4512360	4512360	T	C	exonic	PLIN4	.	nonsynonymous SNV	PLIN4:NM_001367868:exon5:c.A1600G:p.T534A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.146	B	0.06	B	0.000	D	0.999	N	0.68	N	3.48	T	-0.967	T	0.011	T	0.16	1.200	9.876	1.86	0.274	1.875	5.075	0.035	0.0106210646735	.	.	8.287e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs769718990	4.801e-06	6.159e-06	6.824e-06	2.758e-06	0.0010	2e-06	1.28e-06	0.0005	0.0003	0	0	0	2.52e-05	0	0.0010	0	0	0	0	3.303e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.073	0.34800	T	0.09	0.40586	T	0.146	0.27821	B	0.06	0.26717	B	0.000140	0.49741	D	0.000000	0.998862	0.21844	N	1.795	0.47270	L	3.48	0.05130	T	-2.19	0.49352	N	0.172	0.22486	-0.9670	0.37814	T	0.011	0.04227	T	10	0.113607466	0.21348	T	0.010621	0.27366	T	0.035	0.08770	0.358	0.36060	0.0401082797425	0.02173	0.03772965988602045	0.03718	.	.	0.285797029734	0.08313	T	0.026942	0.19836	T	-0.387975	0.02771	T	-0.625947	0.10725	T	0.0776469900287054	0.09682	T	0.476852	0.14398	T	0.05802467	0.11622	0.051841173	0.08425	0.05802467	0.11621	0.051841173	0.08425	-5.824	0.44783	T	.	.	0.092	0.13737	B	.;.	.;.	0.497738	0.08667	5.440	0.93834051117699557	0.23823	0.15442	0.18914	N	AEFDBCI	0.086028	0.17442	N	-0.814463315534122	0.12941	0.6341316	-0.816294139803543	0.14100	0.7350504	0.00106636464167736	0.08183	0.676563	0.55306	0	0.550933	0.16991	0	0.673471	0.61138	0	0.604944	0.38103	0	.	.	5.13	1.86	0.24489	-0.030000	0.12257	-11.234000	0.00623	0.582000	0.30178	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.2478:0.1467:0.6056	5.075	0.13961	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	6782.33	299	chr19	4512360	.	T	C	6782.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.490e+00;DP=7253;ExcessHet=0.0000;FS=3.212;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=59.88;MQRankSum=0.982;QD=17.53;ReadPosRankSum=0.619;SOR=0.554	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:402,0:402:99:.:.:0,120,1800	19	0	1	1
chr19	4523613	4523613	C	T	exonic	PLIN5	.	nonsynonymous SNV	PLIN5:NM_001013706:exon8:c.G1307A:p.G436D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.455	P	0.076	B	0.348	U	1.000	N	0.55	N	2.72	T	-0.992	T	0.013	T	0.225	2.404	14.00	-5.87	-0.327	-1.104	3.102	0.018	0.00696863771327	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1301943215	7.546e-06	7.524e-06	1.092e-05	4.138e-06	3.025e-05	4.05e-06	2.96e-06	3.81e-06	2.76e-06	3.025e-05	0	0	0	0	0	8.103e-06	1.66e-05	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.04	0.42199	D	0.029	0.54541	D	0.455	0.36245	P	0.076	0.28435	B	0.347519	0.13867	U	0.593178	1	0.08975	N	1.32	0.33002	L	2.72	0.11947	T	-0.15	0.09297	N	0.161	0.16864	-0.9924	0.31985	T	0.013	0.04985	T	10	0.0777145	0.12298	T	0.006969	0.18458	T	0.018	0.03083	0.272	0.22210	0.16115917748	0.15686	0.16510025739991357	0.16430	0.296269785918	0.32015	0.373286962509	0.21303	T	0.007209	0.06625	T	-0.279391	0.10732	T	-0.639103	0.09734	T	0.129286572337151	0.15315	T	0.438156	0.12052	T	0.05325261	0.10051	0.0697988	0.14751	0.05325261	0.10051	0.0697988	0.14750	-3.933	0.22798	T	.	.	0.079	0.07224	B	.	.	0.227201	0.06087	2.532	0.89640925969431529	0.18972	0.03268	0.08306	N	AEFDGBHCI	0.158870	0.28459	N	-1.13664868835922	0.06002	0.2751796	-1.27251857214605	0.04805	0.2275724	0.999995963484123	0.74766	0.696267	0.57585	0	0.688826	0.66785	0	0.691665	0.62940	0	0.691587	0.68394	0	.	.	4.43	-5.87	0.02107	-0.396000	0.07338	-0.097000	0.11987	0.331000	0.19555	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.5041:0.2608:0.14:0.0952	3.102	0.05949	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1852.98	33	chr19	4523613	.	C	T	1852.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.04;DP=815;ExcessHet=0.0000;FS=1.545;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.69;ReadPosRankSum=2.25;SOR=0.776	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1180	20	0	1	0
chr19	4534052	4534052	T	C	exonic	PLIN5	.	nonsynonymous SNV	PLIN5:NM_001013706:exon2:c.A23G:p.Q8R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.275	B	0.06	B	0.763	U	1.000	N	0.695	N	2.69	T	-0.989	T	0.020	T	0.05	1.036	9.233	2.48	1.409	0.401	6.866	0.025	0.0128913954543	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1343489123	3.422e-06	3.42e-06	1.362e-06	5.504e-06	0.0002	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.699e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.333	0.18395	T	0.079	0.24468	B	0.015	0.17295	B	0.762640	0.09611	U	0.877390	1	0.08975	N	2.125	0.59049	M	2.69	0.59314	T	-1.11	0.28703	N	0.097	0.07811	-0.9891	0.32828	T	0.020	0.08546	T	10	0.06951794	0.09985	T	0.012891	0.31852	T	0.025	0.05312	0.12	0.02719	0.181679512989	0.17746	0.14897467900613784	0.14819	0.215293184439	0.24062	0.438211083412	0.30333	T	0.00653	0.05961	T	-0.246608	0.14517	T	-0.592012	0.13493	T	0.0567479127302515	0.06647	T	0.278772	0.04827	T	0.12024295	0.28297	0.108136974	0.26045	0.12024295	0.28296	0.108136974	0.26044	-3.462	0.15904	T	.	.	0.068	0.17317	B	.;.;.	.;.;.	0.658651	0.10271	7.005	0.94022779775070897	0.24131	0.07378	0.13398	N	AEFDGBCI	0.079949	0.16156	N	-0.910554251681448	0.10594	0.5070056	-0.963693022902307	0.10607	0.5352835	0.117129439561611	0.16794	0.582742	0.33608	0	0.610034	0.51514	0	0.61531	0.40942	0	0.562822	0.20929	0	.	.	2.48	2.48	0.29194	0.176000	0.16596	-0.085000	0.12129	0.559000	0.28343	0.001000	0.13787	0.000000	0.08366	0.006000	0.07323	0.0:0.0:0.0:1.0	6.866	0.23275	934	0.15400	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2149.98	34	chr19	4534052	.	T	C	2149.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.995e+00;DP=869;ExcessHet=0.0000;FS=0.594;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.43;ReadPosRankSum=-2.510e+00;SOR=0.763	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr19	4544107	4544107	G	C	exonic	SEMA6B	.	nonsynonymous SNV	SEMA6B:NM_032108:exon17:c.C2161G:p.P721A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.886	P	0.577	P	0.024	U	1.000	D	0.55	N	1.9	T	-1.016	T	0.068	T	0.224	3.252	16.91	2.87	1.302	3.614	9.473	0.084	0.7042793723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.50514	D	0.886	0.48745	P	0.577	0.50090	P	0.023909	0.01601	U	2.751550	0.631814	0.81001	D	1.1	0.28011	L	1.9	0.23486	T	.	.	.	0.271	0.30687	-1.0164	0.24884	T	0.068	0.28047	T	10	0.34442306	0.51435	T	0.704279	0.97585	D	.	.	0.147	0.05039	0.0675242888579	0.06100	0.19567006727673636	0.19484	3.02109504773	0.99258	0.819174647331	0.84901	D	0.22671	0.59180	T	-0.189192	0.22377	T	-0.509537	0.21363	T	0.742001533508301	0.42845	D	0.466053	0.13673	T	0.10795358	0.25526	0.09651161	0.22934	0.10795358	0.25526	0.09651161	0.22934	-4.659	0.32904	T	.	.	0.066	0.02285	B	.	.	3.179666	0.43155	21.7	0.99474984660874988	0.66525	0.87723	0.47359	D	AEFDBI	0.316535	0.42080	N	0.0770511663113345	0.45394	2.796663	0.0768801990844948	0.43388	2.641615	0.999506312677018	0.40062	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	2.87	2.87	0.32523	2.175000	0.42119	8.701000	0.78107	0.495000	0.22486	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:1.0:0.0	9.473	0.38020	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	39.98	27	chr19	4544107	.	G	C	39.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.183;DP=564;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=3.33;ReadPosRankSum=-8.600e-02;SOR=0.551	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1067	20	0	1	0
chr19	4670324	4670324	G	C	exonic	MYDGF	.	nonsynonymous SNV	MYDGF:NM_019107:exon1:c.C11G:p.P4R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.873	P	0.759	P	0.275	N	0.745	D	1.1	L	0.49	T	-0.559	T	0.203	T	0.353	4.273	22.3	3.86	1.081	3.862	12.280	0.278	.	0.0016	0.00159744	0.0016	0.0220	0.0128	0	0	0.0005	0	0	0.0003363	52	154602	rs376938392	0.0003	0.0003	0.0003	0.0003	0.0107	0.0003	0.0003	0.0096	0.0092	0.0107	0.0018	0	0	0	0.0006	3.569e-05	0.0008	0	0.0034	0.0034	0.0035	0.0033	0.0117	0.0032	0.0031	0.0108	0.0105	0.0117	0	0.0016	0	0	0	0.0034	0.0001	0.0019	0	0.028	0.46129	D	0.0	0.92824	D	0.873	0.47975	P	0.759	0.56370	P	0.275016	0.15054	N	0.599918	0.744699	0.33861	D	.	.	.	0.49	0.59314	T	-0.91	0.24460	N	0.492	0.61426	-0.5593	0.66430	T	0.203	0.56003	T	10	0.007411152	0.00169	T	.	.	.	0.278	0.59497	.	.	0.222439326576	0.21863	0.6150231850513328	0.61434	1.35893517082	0.84265	.	.	.	0.088001	0.38064	T	-0.366304	0.03785	T	-0.288559	0.45923	T	0.0766957929538974	0.09559	T	0.535446	0.17943	T	0.1842148	0.39726	0.24728286	0.50255	0.1842148	0.39725	0.24728286	0.50254	-2.299	0.04549	T	.	.	0.116	0.23675	B	.;.	.;.	4.822652	0.78566	26.9	0.99752577221420491	0.84382	0.90526	0.51775	D	ALL	0.705736	0.66103	D	0.268823526862595	0.54575	3.622815	0.266231362451277	0.53577	3.52606	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.273489	0.05413	2	.	.	4.9	3.86	0.43689	3.213000	0.50855	8.042000	0.76319	0.584000	0.30380	1.000000	0.71638	1.000000	0.68203	0.777000	0.36790	0.0827:0.0:0.9173:0.0	12.280	0.54076	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	677.98	34	chr19	4670324	.	G	C	677.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.009e+00;DP=788;ExcessHet=0.0000;FS=1.007;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.30;ReadPosRankSum=-5.110e-01;SOR=0.540	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1206	20	0	1	0
chr19	4818155	4818155	G	A	exonic	TICAM1	.	nonsynonymous SNV	TICAM1:NM_001385679:exon2:c.C88T:p.R30C	.	.	1	1516	4	1	0	6	0.00197498	.	.	533197	Herpes_simplex_encephalitis,_susceptibility_to,_4	MONDO:MONDO:0013921,MedGen:C3553869,OMIM:614850,Orphanet:1930	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.013	B	0.005	B	0.351	N	1.000	N	1.5	L	0.83	T	-0.994	T	0.042	T	0.132	2.071	12.88	0.959	0.479	-0.118	10.386	0.031	.	0.0059	0.00339457	0.0014	0.0163	0.0004	0	0	0.0001	0	0	0.0012484	193	154602	rs11466719	0.0006	0.0006	0.0007	0.0005	0.0162	0.0006	0.0005	0.0151	0.0146	0.0162	0.0006	0.0012	0	0	0.0010	0.0001	0.0012	9.282e-05	0.0043	0.0043	0.0042	0.0044	0.0151	0.0041	0.0039	0.0141	0.0137	0.0151	0	0.0010	0.0012	0	0	0	0.0001	0.0028	0.0002	0.09	0.31987	T	0.014	0.62352	D	0.013	0.16609	B	0.005	0.11217	B	0.351476	0.13809	N	0.517019	1	0.08975	N	2.125	0.59049	M	0.83	0.47815	T	-2.09	0.47683	N	0.165	0.17416	-0.9943	0.31485	T	0.042	0.18035	T	10	0.0035818815	0.00065	T	.	.	.	0.031	0.07369	.	.	0.147330786459	0.14319	.	.	0.304014704751	0.32724	0.290169924498	0.08948	T	0.503392	0.82291	D	-0.565229	0.00236	T	-0.571715	0.15292	T	0.00864417867683755	0.00106	T	0.646635	0.25786	T	0.17356603	0.38112	0.09844542	0.23471	0.30511606	0.53360	0.12613325	0.30380	-4.797	0.34556	T	.	.	0.102	0.18122	B	.	.	1.678904	0.21398	15.18	0.98440087603964066	0.41497	0.04698	0.10385	N	AEFBHCI	0.079466	0.16051	N	-0.801896670043771	0.13261	0.6520688	-0.855159008089002	0.13164	0.6813909	0.0115172225124544	0.12196	0.67177	0.52595	0	0.702456	0.74545	0	0.603688	0.36954	0	0.635551	0.53088	0	.	.	4.75	0.959	0.18747	-0.124000	0.10571	0.653000	0.20435	0.618000	0.50648	0.002000	0.15269	0.108000	0.22760	0.633000	0.32236	0.0:0.2474:0.6163:0.1363	10.386	0.43321	934	0.15400	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1708.98	38	chr19	4818155	.	G	A	1708.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.77;DP=896;ExcessHet=0.0000;FS=2.207;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=0.329;SOR=0.749	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1376	20	0	1	0
chr19	4859619	4859619	G	T	exonic	PLIN3	.	nonsynonymous SNV	PLIN3:NM_001164189:exon4:c.C319A:p.L107I	.	.	416	1079	26	1	0	28	0.0128088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.999	D	0.005	U	0.977	N	2.055	M	3.04	T	-1.098	T	0.049	T	0.178	3.270	16.98	3.11	0.902	1.194	4.139	0.120	0.0111998595391	0.0035	0.00199681	0.0040	0.0009	0.0032	0	0	0.0056	0.0033	0.0041	0.0042108	651	154602	rs11552104	0.0047	0.0047	0.0047	0.0047	0.0146	0.0046	0.0046	0.0121	0.0111	0.0008	0.0027	0.0077	0	0.0004	0.0146	0.0052	0.0048	0.0039	0.0034	0.0034	0.0037	0.0030	0.0054	0.0032	0.0031	0.0050	0.0048	0.0007	0.0110	0.0033	0.0089	0.0002	0	0.0170	0.0054	0.0038	0.0031	0.0	0.91255	D	0.053	0.48080	T	1.0	0.90584	D	0.999	0.92359	D	0.005490	0.32753	U	0.204155	0.977048	0.25337	N	2.62	0.76659	M	3.04	0.08810	T	-1.81	0.42575	N	0.402	0.44283	-1.0979	0.04354	T	0.049	0.20868	T	10	0.011464447	0.00250	T	0.011	0.28580	T	0.120	0.33359	.	.	0.115124310173	0.11017	0.3354490691648278	0.33457	0.443632335628	0.44285	0.417411506176	0.27481	T	0.115009	0.43327	T	-0.515503	0.00467	T	-0.510926	0.21221	T	0.030477355265993	0.02063	T	0.872813	0.58047	D	0.39618346	0.60467	0.27863643	0.53826	0.39618346	0.60468	0.27863643	0.53825	-9.373	0.70097	D	.	.	0.121	0.35098	B	.;.;.;.;.	.;.;.;.;.	3.248576	0.44377	21.9	0.9952486459899893	0.69469	0.89251	0.49603	D	AEFDBI	0.220090	0.34489	N	0.340190083051879	0.58222	3.993413	0.245947758249608	0.52420	3.416867	0.656106833645402	0.22219	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.2	3.11	0.34883	1.023000	0.29668	2.486000	0.32962	0.569000	0.28856	0.740000	0.29026	0.997000	0.33255	0.875000	0.41745	0.0917:0.1605:0.5824:0.1654	4.139	0.09654	964	0.07719	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2122.11	94	chr19	4859619	.	G	T	2122.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.29;DP=851;ExcessHet=0.1072;FS=1.754;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.77;ReadPosRankSum=0.791;SOR=0.863	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1288	19	0	2	0
chr19	4859651	4859651	G	A	exonic	PLIN3	.	nonsynonymous SNV	PLIN3:NM_001164189:exon4:c.C287T:p.A96V	.	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.999	D	0.000	D	1.000	D	2.065	M	3.07	T	-1.123	T	0.067	T	0.809	3.521	17.98	4.2	2.161	7.506	16.294	0.402	0.0233896677904	0.0002	.	0.0001	0	0.0002	0	0	0.0002	0	0.0002	0.0001229	19	154602	rs145402746	8.072e-05	8.072e-05	6.806e-05	9.351e-05	0.0009	6.868e-05	6.42e-05	0.0003	0.0002	0	0.0002	0.0016	0	0	0.0009	3.058e-05	0.0001	0.0002	7.222e-05	7.218e-05	6.425e-05	8.055e-05	6.547e-05	3.968e-05	3.125e-05	1.171e-05	6.25e-06	0	0	6.547e-05	0.0014	0	0	0.0034	4.41e-05	0.0005	0	0.059	0.37536	T	0.091	0.40909	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999913	0.51042	D	2.39	0.68882	M	3.07	0.08547	T	-3.34	0.66325	D	0.661	0.69125	-1.1235	0.02121	T	0.067	0.27572	T	10	0.26280743	0.43753	T	0.02339	0.46348	T	0.402	0.71558	.	.	0.28722502521	0.28325	0.7171638014698266	0.71659	0.467212021082	0.46105	0.581556737423	0.50305	T	0.211253	0.57197	T	-0.12383	0.32499	T	-0.14135	0.60000	T	0.342984288930893	0.26742	T	0.839916	0.51656	T	0.32225117	0.54829	0.29765663	0.55799	0.32225117	0.54829	0.29765663	0.55798	-8.357	0.63512	D	.	.	0.164	0.53717	B	.;.;.;.;.	.;.;.;.;.	4.154254	0.62344	24.4	0.99872935698400533	0.95076	0.99521	0.97020	D	AEFDBI	0.888878	0.82243	D	0.505159350205338	0.67396	5.075841	0.390913538393295	0.61002	4.294618	0.999999989607675	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.2	4.2	0.48814	7.895000	0.85911	7.152000	0.57680	0.569000	0.28856	1.000000	0.71638	1.000000	0.68203	0.171000	0.21011	0.0:0.0:1.0:0.0	16.294	0.82591	964	0.07719	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3496.08	47	chr19	4859651	.	G	A	3496.08	.	AC=2;AF=0.048;AN=42;DP=852;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.40;SOR=0.859	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1288	20	1	0	0
chr19	4941590	4941590	C	T	exonic	UHRF1	.	nonsynonymous SNV	UHRF1:NM_013282:exon5:c.C887T:p.P296L	.	.	437	1083	2	0	0	2	0.000922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.987	D	0.631	P	0.001	N	0.987	D	2.565	M	.	.	-0.069	T	0.350	T	0.555	3.446	17.67	4.58	2.366	3.132	17.556	0.326	.	.	.	9.054e-05	0	0	0.0011	0	0	0	6.667e-05	6.47e-05	10	154602	rs763324730	4.653e-05	4.652e-05	4.085e-05	5.227e-05	0.0004	3.729e-05	3.412e-05	0.0003	0.0002	2.988e-05	2.238e-05	0	0.0004	0	0	4.138e-05	0	4.641e-05	4.597e-05	4.594e-05	5.14e-05	4.03e-05	0.0004	2.108e-05	1.526e-05	6.84e-05	2.862e-05	0	0	0	0	0.0004	0	0	5.88e-05	0.0005	0	.	.	.	0.038	0.58089	D	0.984	0.60733	D	0.631	0.51788	P	0.001221	0.39820	N	0.252459	.	.	.	2.66	0.77858	M	.	.	.	.	.	.	0.396	0.45709	-0.0690	0.80802	T	0.350	0.71431	T	8	0.12929004	0.24599	T	.	.	.	.	.	.	.	0.388812400583	0.38497	0.8060351035236138	0.80558	.	.	0.435775309801	0.30000	T	0.31626	0.68781	T	-0.117946	0.33460	T	0.0122501	0.71127	D	0.485030144453049	0.32081	T	0.814619	0.46840	T	0.24088494	0.46997	0.17656052	0.40199	0.24088494	0.46997	0.17656052	0.40199	-8.785	0.66303	D	.	.	0.158	0.43612	B	.;.;.;.;.;.	.;.;.;.;.;.	3.661180	0.52017	23.2	0.99801362231328183	0.88639	0.92511	0.55883	D	AEFDGBHCI	.	.	.	0.300605368190385	0.56181	3.782372	0.187384674226737	0.49154	3.122138	0.9999999975548	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.213933	0.04560	1	0.375513	0.06772	0	0.970898	0.73149	4.58	4.58	0.56077	4.684000	0.61374	4.812000	0.45049	0.596000	0.33519	0.994000	0.38300	0.993000	0.31925	0.021000	0.11733	0.0:1.0:0.0:0.0	17.556	0.87787	958	0.09170	UHRF1, tandem tudor domain;UHRF1, tandem tudor domain;UHRF1, tandem tudor domain;UHRF1, tandem tudor domain;UHRF1, tandem tudor domain;UHRF1, tandem tudor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2413.98	232	chr19	4941590	.	C	T	2413.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=962;ExcessHet=0.0000;FS=4.590;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.41;ReadPosRankSum=-3.850e-01;SOR=0.999	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr19	4954746	4954746	G	A	exonic	UHRF1	.	nonsynonymous SNV	UHRF1:NM_013282:exon14:c.G2093A:p.R698K	.	.	433	1049	38	2	0	42	0.0196262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.022	N	0.992	N	.	.	.	.	-0.966	T	0.025	T	.	-1.595	0.014	-6.23	-1.749	1.268	9.401	0.052	.	0.0041	0.00279553	0.0049	0.0008	0.0021	0	0.0015	0.0056	0.0045	0.0106	0.0005692	88	154602	rs62621801	0.0052	0.0052	0.0048	0.0055	0.0140	0.0051	0.0050	0.0118	0.0116	0.0007	0.0028	0.0143	5.038e-05	0.0010	0.0140	0.0049	0.0064	0.0124	0.0042	0.0042	0.0043	0.0040	0.0131	0.0039	0.0038	0.0105	0.0095	0.0008	0	0.0042	0.0147	0.0002	0.0009	0.0034	0.0058	0.0076	0.0131	.	.	.	1.0	0.04603	T	0.0	0.02946	B	0.001	0.04355	B	0.021601	0.26803	N	0.389904	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.07125	-0.9664	0.37934	T	0.025	0.10598	T	7	0.0033281147	0.00057	T	.	.	.	.	.	.	.	0.0986583533028	0.09354	0.5011052632260251	0.50032	.	.	0.265116155148	0.05515	T	0.084796	0.37357	T	-0.781554	0.00011	T	-0.886029	0.00606	T	0.0148856521144319	0.00315	T	0.783522	0.42019	T	0.14534879	0.33323	0.118098706	0.28508	0.14534879	0.33323	0.118098706	0.28508	-3.702	0.19348	T	.	.	0.060	0.01011	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.138487	0.05329	1.817	0.50478674859723482	0.04391	0.14024	0.18181	N	AEFGBHI	.	.	.	-1.61723298231365	0.01181	0.05133813	-1.65181575236333	0.01366	0.06172264	0.033033839052933	0.14085	0.156188	0.03335	0	0.12628	0.03447	0	0.17184	0.04098	0	0.221052	0.04502	0	0.193795	0.30138	4.78	-6.23	0.01875	1.269000	0.32677	0.576000	0.19656	-1.899000	0.00526	0.978000	0.35038	0.380000	0.24611	0.038000	0.14061	0.2793:0.0:0.5268:0.1939	9.401	0.37594	958	0.09170	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4707.11	40	chr19	4954746	.	G	A	4707.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.49;DP=1160;ExcessHet=0.1072;FS=1.679;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=55.71;MQRankSum=-5.770e-01;QD=12.49;ReadPosRankSum=-6.230e-01;SOR=0.600	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	19	0	2	0
chr19	5151501	5151501	C	T	exonic	KDM4B	.	nonsynonymous SNV	KDM4B:NM_015015:exon23:c.C3281T:p.A1094V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.141	B	0.039	B	0.063	N	0.675	N	1.39	L	2.21	T	-1.047	T	0.042	T	0.108	3.390	17.44	1.18	-0.192	1.069	10.623	0.081	0.052100809661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.577e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.36113	T	0.0	0.92824	D	0.002	0.09854	B	0.002	0.06944	B	0.062804	0.22070	N	0.425170	0.999995	0.08975	N	.	.	.	2.19	0.18724	T	-0.78	0.21644	N	0.075	0.05799	-1.0472	0.15188	T	0.042	0.17952	T	10	0.044999927	0.03520	T	0.052101	0.64935	D	0.081	0.23632	0.157	0.06070	0.179529687257	0.17594	0.21524051125461202	0.21440	0.397126455906	0.40809	0.505750417709	0.39629	T	0.010592	0.12164	T	-0.294219	0.09216	T	-0.660401	0.08239	T	0.224709063768387	0.21696	T	0.647735	0.25884	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.12560	B	.;.;.	.;.;.	2.277033	0.29111	18.02	0.98992084234600819	0.49963	0.51593	0.28932	D	AEFDBCI	0.081401	0.16472	N	-1.00767451624726	0.08444	0.3959214	-0.927493385035177	0.11446	0.5831812	0.400330800043199	0.20125	0.634777	0.41761	0	0.643519	0.57511	0	0.26897	0.05253	2	0.699875	0.68795	0	.	.	4.66	1.18	0.20058	0.751000	0.26013	0.203000	0.15874	-0.943000	0.02073	0.917000	0.31872	0.006000	0.19429	0.823000	0.38780	0.0:0.675:0.2504:0.0746	10.623	0.44682	969	0.06854	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	648.98	38	chr19	5151501	.	C	T	648.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.310e-01;DP=775;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.98;ReadPosRankSum=0.731;SOR=0.641	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1047	20	0	1	0
chr19	5151504	5151504	C	T	exonic	KDM4B	.	nonsynonymous SNV	KDM4B:NM_015015:exon23:c.C3284T:p.P1095L,	.	YES	.	.	.	.	.	.	.	.	.	971283	Neurodevelopmental_delay|Intellectual_developmental_disorder,_autosomal_dominant_65	Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738|MONDO:MONDO:0023657,MedGen:C5543371,OMIM:619320	no_assertion_criteria_provided	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0	D	0.997	D	0.991	D	0.022	N	1.000	D	1.1	L	2.19	T	-1.086	T	0.083	T	0.442	3.778	19.18	3.27	2.122	1.565	10.303	0.095	0.313146367017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.0	0.92824	D	0.997	0.70673	D	0.991	0.79672	D	0.021686	0.26783	N	0.313960	0.998953	0.45755	D	.	.	.	2.19	0.19020	T	-2.8	0.59226	D	0.126	0.11912	-1.0859	0.06245	T	0.083	0.32700	T	10	0.243525	0.41568	T	0.313146	0.91247	D	0.095	0.27398	0.252	0.19067	0.151262610727	0.14761	0.3656096589815389	0.36474	0.54485426869	0.51528	0.572288036346	0.49002	T	0.022492	0.20499	T	-0.114135	0.34087	T	-0.401724	0.33183	T	0.939388811588287	0.61080	D	0.644736	0.25952	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.22609	B	.;.;.	.;.;.	4.626180	0.73504	26.0	0.99873781487961155	0.95076	0.49406	0.28426	N	AEFDBCI	0.110093	0.21845	N	0.253827910543076	0.53829	3.550184	0.2101876502835	0.50411	3.233517	0.973685540487094	0.29477	0.634777	0.41761	0	0.643519	0.57511	0	0.26897	0.05253	2	0.699875	0.68795	0	.	.	3.27	3.27	0.36580	2.327000	0.43517	2.570000	0.33360	0.584000	0.30380	0.987000	0.36337	0.030000	0.21233	0.930000	0.46718	0.0:1.0:0.0:0.0	10.303	0.42844	969	0.06854	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	281.98	38	chr19	5151504	.	C	T	281.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.045;DP=761;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.88;ReadPosRankSum=1.49;SOR=0.601	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1047	20	0	1	0
chr19	5222821	5222821	C	T	exonic	PTPRS	.	nonsynonymous SNV	PTPRS:NM_130854:exon14:c.G2905A:p.A969T	.	.	.	.	.	.	.	.	.	.	.	2378339	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.65	T	0.999	D	0.982	D	0.000	U	1.000	D	-0.29	N	0.6	T	-1.018	T	0.126	T	0.377	0.517	6.799	3.47	2.257	0.873	10.729	0.100	0.716447939187	8.2e-05	.	9.792e-05	0.0003	9.393e-05	0	0	0.0001	0	0	9.06e-05	14	154602	rs201357930	6.234e-05	6.498e-05	5.654e-05	6.82e-05	6.941e-05	5.159e-05	4.775e-05	5.636e-05	5.207e-05	6.04e-05	6.739e-05	3.855e-05	5.069e-05	0	0	6.941e-05	5.002e-05	2.327e-05	3.942e-05	3.94e-05	6.422e-05	1.345e-05	7.352e-05	1.715e-05	1.129e-05	2.847e-05	1.859e-05	0	0	0	0.0003	0	0	0	7.352e-05	0	0	.	.	.	0.838	0.03631	T	0.072	0.77913	B	0.056	0.75477	B	0.000244	0.46924	U	0.085994	0.977019	0.81001	D	0.275	0.09989	N	0.6	0.53731	T	.	.	.	0.18	0.22870	-1.0175	0.24528	T	0.126	0.43132	T	10	0.20342046	0.36497	T	0.716448	0.97701	D	.	.	.	.	0.520477512065	0.51690	0.4058448759619515	0.40500	.	.	0.815482795238	0.84334	D	0.096531	0.39844	T	-0.26502	0.12319	T	-0.363414	0.37658	T	0.0709845793439447	0.08788	T	0.845515	0.52437	T	0.054389875	0.10428	0.07116846	0.15208	0.054389875	0.10427	0.07116846	0.15208	-6.334	0.50694	T	.	.	0.077	0.06387	B	.;.	.;.	3.732958	0.53412	23.4	0.92733045489264421	0.22234	0.92538	0.55946	D	AEFDBI	0.386580	0.46689	N	-0.289104101829205	0.29568	1.640866	-0.218161879856891	0.30885	1.742884	0.43422764044242	0.20399	0.695654	0.57023	0	0.626922	0.53725	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.47	3.47	0.38831	1.754000	0.37998	4.066000	0.41626	0.575000	0.29119	1.000000	0.71638	1.000000	0.68203	0.020000	0.11549	0.0:1.0:0.0:0.0	10.729	0.45285	976	0.04745	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1524.98	35	chr19	5222821	.	C	T	1524.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.310e-01;DP=775;ExcessHet=0.0000;FS=2.715;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.56;ReadPosRankSum=2.17;SOR=0.455	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1075	20	0	1	0
chr19	5223178	5223178	G	A	exonic	PTPRS	.	nonsynonymous SNV	PTPRS:NM_130854:exon14:c.C2548T:p.R850C	.	.	.	.	.	.	.	.	.	.	.	3204177	PTPRS-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.97	D	0.000	U	1.000	D	2.045	M	0.39	T	-0.409	T	0.315	T	0.773	2.952	15.84	4.22	2.196	6.174	16.792	0.279	0.143020875048	0.0007	0.000599042	0.0014	0.0058	0.0050	0	0	0.0003	0	0.0010	0.000414	64	154602	rs151114416	0.0002	0.0002	0.0002	0.0002	0.0029	0.0002	0.0002	0.0024	0.0023	0.0029	0.0011	0	2.727e-05	0	0.0026	9.944e-05	0.0008	0.0002	0.0010	0.0010	0.0010	0.0011	0.0031	0.0009	0.0009	0.0027	0.0025	0.0031	0	0.0010	0	0	0	0	0.0002	0.0014	0	.	.	.	0.061	0.47581	T	1.0	0.90584	D	0.97	0.72226	D	0.000002	0.62929	U	0.000000	1	0.81001	D	2.52	0.73523	M	0.39	0.57419	T	.	.	.	0.785	0.83066	-0.4090	0.71742	T	0.315	0.68486	T	10	0.040696263	0.02661	T	0.143021	0.82537	D	.	.	.	.	0.334885890373	0.33091	0.5672514940401855	0.56653	.	.	0.624329805374	0.56341	T	0.398936	0.75692	T	-0.149347	0.28414	T	0.0093321	0.70939	D	0.0284376771749063	0.01751	T	0.996	0.98527	D	0.4768847	0.65711	0.35093856	0.60695	0.4768847	0.65712	0.35093856	0.60695	-10.877	0.80312	D	.	.	0.722	0.73851	P	.;.	.;.	5.253289	0.88202	29.5	0.99928431686788177	0.99222	0.97607	0.75865	D	AEFBI	0.844643	0.76159	D	0.532639521033732	0.69031	5.299722	0.44685290476968	0.64513	4.70843	0.712683114551297	0.22838	0.718356	0.82227	0	0.844039	0.99811	0	0.570548	0.19454	0	0.699875	0.68795	0	.	.	4.22	4.22	0.49153	6.484000	0.73529	7.184000	0.57757	0.585000	0.30472	1.000000	0.71638	1.000000	0.68203	0.632000	0.32210	0.0:0.0:1.0:0.0	16.792	0.85453	976	0.04745	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1883.98	35	chr19	5223178	.	G	A	1883.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.26;DP=838;ExcessHet=0.0000;FS=3.001;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.27;ReadPosRankSum=0.638;SOR=0.933	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1075	20	0	1	0
chr19	5751676	5751676	C	G	exonic	CATSPERD	.	nonsynonymous SNV	CATSPERD:NM_152784:exon12:c.C1017G:p.D339E,	.	.	439	1075	8	0	0	8	0.00370714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.814	N	1.000	N	-0.28	N	2.09	T	-0.942	T	0.019	T	0.051	-1.931	0.008	-4.38	-1.109	-2.371	11.805	0.018	0.00279689982546	0.0012	0.00119808	0.0010	0.0003	9.053e-05	0	0.0006	0.0008	0	0.0036	0.0009185	142	154602	rs182429615	0.0011	0.0011	0.0011	0.0012	0.0027	0.0011	0.0011	0.0024	0.0023	0.0002	0.0001	0	0	0.0008	0	0.0012	0.0010	0.0027	0.0008	0.0008	0.0008	0.0008	0.0021	0.0007	0.0006	0.0011	0.0010	0.0001	0	0.0003	0	0.0002	0.0008	0	0.0014	0.0009	0.0021	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.813571	0.09233	N	0.866565	1	0.08975	N	-0.805	0.01590	N	2.09	0.20122	T	0.98	0.01447	N	0.125	0.11769	-0.9424	0.42234	T	0.019	0.07753	T	10	0.005914569	0.00132	T	0.002797	0.05840	T	0.018	0.03083	0.301	0.26843	0.0551355673512	0.04727	0.13120088681055211	0.13045	0.14476756542	0.16355	0.311209350824	0.12089	T	0.001084	0.00603	T	-0.765569	0.00014	T	-0.875514	0.00692	T	0.012062929750252	0.00191	T	0.162984	0.01479	T	0.0257031	0.01537	0.034226887	0.02454	0.0257031	0.01537	0.034226887	0.02453	-4.126	0.25672	T	.	.	0.124	0.26138	B	.	.	-1.924797	0.00120	0.002	0.3126584607533433	0.01753	0.00063	0.00458	N	AEFDBI	0.012733	0.00147	N	-2.60628794479312	0.00009	0.0003901138	-2.58497885225901	0.00015	0.0006500489	0.00309526264602062	0.09922	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.53	-4.38	0.03371	-2.333000	0.01188	-3.051000	0.03105	-3.100000	0.00124	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0853:0.5635:0.3512:0.0	11.805	0.51420	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	1765.08	41	chr19	5751676	.	C	G	1765.08	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.12;DP=767;ExcessHet=0.0000;FS=3.411;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=25.96;ReadPosRankSum=0.765;SOR=0.561	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1066	20	1	0	0
chr19	5754216	5754216	C	T	exonic	CATSPERD	.	nonsynonymous SNV	CATSPERD:NM_152784:exon13:c.C1249T:p.P417S,	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	1.0	D	1.0	D	0.123	N	1.000	N	1.995	M	1.78	T	-1.099	T	0.027	T	0.078	2.247	13.47	-0.041	0.262	0.468	1.635	0.027	.	0.0063	0.0081869	0.0019	0.0228	8.642e-05	0	0	2.997e-05	0.0011	0.0001	0.0018693	289	154602	rs116784915	0.0006	0.0006	0.0007	0.0005	0.0231	0.0006	0.0006	0.0218	0.0212	0.0231	0.0008	0	0	0	0.0021	2.339e-05	0.0011	5.797e-05	0.0061	0.0061	0.0062	0.0059	0.0215	0.0058	0.0056	0.0203	0.0199	0.0215	0	0.0010	0	0	0	0	0.0001	0.0024	0.0006	0.092	0.31682	T	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.123447	0.18917	N	0.382752	1	0.08975	N	2.08	0.57402	M	1.78	0.25678	T	-3.89	0.72820	D	0.555	0.58031	-1.0987	0.04252	T	0.027	0.11485	T	10	0.005106479	0.00110	T	.	.	.	0.027	0.05988	.	.	0.185906805712	0.18197	0.7351425892844331	0.73459	0.657697305024	0.58710	0.399948090315	0.25061	T	0.08497	0.37398	T	-0.63168	0.00093	T	-0.661887	0.08139	T	0.0442535740000031	0.04466	T	0.494051	0.15283	T	0.11536417	0.27223	0.16340445	0.37907	0.11536417	0.27223	0.16340445	0.37907	-2.318	0.04655	T	.	.	0.592	0.68536	P	.	.	1.725693	0.21966	15.42	0.99062415837288698	0.51528	0.01610	0.05214	N	AEFDBI	0.030063	0.02955	N	-0.626810077098637	0.18142	0.9395179	-0.844194625245374	0.13426	0.6964728	1.64740138117811E-6	0.01202	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	3.53	-0.0412	0.13197	0.484000	0.22017	0.194000	0.15776	-0.231000	0.07715	0.006000	0.17386	0.001000	0.17328	0.003000	0.05239	0.219:0.442:0.2135:0.1255	1.635	0.02576	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1018.98	34	chr19	5754216	.	C	T	1018.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.73;ReadPosRankSum=-1.022e+00;SOR=0.708	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1192	20	0	1	0
chr19	5831660	5831660	C	T	exonic	FUT6	.	nonsynonymous SNV	FUT6:NM_001040701:exon2:c.G908A:p.R303Q	Fucosyltransferase 6 deficiency	.	2	1511	9	0	0	9	0.00296932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87	T	0.002	B	0.013	B	0.469	N	1.000	N	-0.39	N	1.83	T	-1.000	T	0.026	T	0.061	-1.919	0.008	-0.68	-0.386	-0.734	8.405	0.012	.	0.0004	0.0117812	0.0062	0.0014	0.0005	0.0004	0	0.0006	0.0011	0.0411	0.0053363	825	154602	rs142915411	0.0026	0.0026	0.0015	0.0037	0.0392	0.0025	0.0025	0.0381	0.0376	0.0012	0.0004	0	0.0001	5.629e-05	0.0012	0.0002	0.0025	0.0392	0.0017	0.0017	0.0011	0.0023	0.0396	0.0015	0.0015	0.0350	0.0332	0.0011	0	0.0004	0	0.0006	0	0	0.0001	0.0019	0.0396	1.0	0.00964	T	0.715	0.05434	T	0.001	0.07471	B	0.007	0.12992	B	0.469400	0.04917	N	1.347070	1	0.08975	N	-0.795	0.01629	N	1.83	0.24841	T	1.3	0.00948	N	0.042	0.06587	-1.0002	0.29860	T	0.026	0.10954	T	10	0.0040806234	0.00080	T	.	.	.	0.012	0.01476	.	.	0.20549828249	0.20151	0.09742670869549662	0.09673	0.428187793213	0.43146	0.231095299125	0.02050	T	0.004503	0.03907	T	-0.726083	0.00025	T	-0.787176	0.02243	T	0.00192946281526445	0.00020	T	0.358964	0.08219	T	0.024834944	0.01355	0.057459738	0.10448	0.024834944	0.01355	0.057459738	0.10447	-3.798	0.20775	T	.	.	0.067	0.02829	B	.;.;.;.;.	.;.;.;.;.	-0.545540	0.01726	0.128	0.92113000809616796	0.21466	0.00262	0.01432	N	AEFBI	0.043866	0.06987	N	-1.76084425124885	0.00648	0.02796577	-1.74759821198303	0.00942	0.04218284	2.84235596300132E-6	0.01202	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	3.11	-0.68	0.10775	-0.999000	0.03808	-6.726000	0.01322	-0.988000	0.01860	0.000000	0.06391	0.000000	0.08366	0.041000	0.14368	0.0:0.2199:0.0:0.7801	8.405	0.31769	970	0.06235	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2058.98	33	chr19	5831660	.	C	T	2058.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.36;DP=1009;ExcessHet=0.0000;FS=2.829;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=49.64;MQRankSum=2.12;QD=13.03;ReadPosRankSum=-4.510e-01;SOR=0.755	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1283	20	0	1	0
chr19	5831880	5831880	G	T	exonic	FUT6	.	nonsynonymous SNV	FUT6:NM_001040701:exon2:c.C688A:p.Q230K	Fucosyltransferase 6 deficiency	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.001	U	1.000	N	-0.89	N	1.97	T	-0.993	T	0.014	T	0.117	-1.368	0.026	-3.46	-0.237	-3.750	1.455	0.044	0.00414949827601	0.0002	0.000199681	5.767e-05	9.614e-05	0	0	0	8.993e-05	0	0	6.5e-06	1	154602	rs364637	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	2.988e-05	4.474e-05	0	2.519e-05	0	0	0.0002	0.0001	4.646e-05	0.0002	0.0003	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	7.222e-05	0	0.0003	0	0	0	0	0.0003	0	0.0004	1.0	0.00964	T	1.0	0.02465	T	0.0	0.02946	B	0.0	0.01387	B	0.001117	0.00740	U	20.777600	1	0.08975	N	-0.195	0.04202	N	1.97	0.22067	T	-0.11	0.08653	N	0.09	0.08925	-0.9931	0.31801	T	0.014	0.05369	T	10	0.018610537	0.00406	T	0.004149	0.09963	T	0.044	0.11924	.	.	0.154104182512	0.14974	0.12465332453566207	0.12391	0.468396034955	0.46186	0.255060464144	0.04320	T	0.004427	0.03837	T	-0.482824	0.00712	T	-0.705618	0.05524	T	0.0564654188896758	0.06600	T	0.163384	0.01486	T	0.0842828	0.19500	0.053717174	0.09100	0.0842828	0.19500	0.053717174	0.09100	-2.94	0.09569	T	.	.	0.069	0.03698	B	.;.;.;.;.	.;.;.;.;.	-1.423199	0.00344	0.006	0.76963715891198137	0.11681	0.00541	0.02492	N	AEFBI	0.069158	0.13675	N	-1.98287398099833	0.00230	0.009867805	-1.97699288533305	0.00342	0.01511721	6.48873158677104E-6	0.01202	0.422189	0.06491	0	0.59043	0.45803	0	0.600433	0.31921	0	0.613276	0.41899	0	.	.	3.07	-3.46	0.04465	-4.738000	0.00222	-5.157000	0.01826	-1.258000	0.01295	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1217:0.3101:0.2549:0.3134	1.455	0.02239	970	0.06235	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1192.98	33	chr19	5831880	.	G	T	1192.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.35;DP=2060;ExcessHet=0.0000;FS=14.649;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.56;MQRankSum=-8.334e+00;QD=3.48;ReadPosRankSum=-2.821e+00;SOR=1.453	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1283	20	0	1	0
chr19	5843866	5843866	G	A	exonic	FUT3	.	nonsynonymous SNV	FUT3:NM_001097641:exon2:c.C974T:p.T325M	.	.	1	1502	19	0	0	19	0.00628515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.64	P	0.219	B	0.910	N	1.000	N	2.47	M	1.86	T	-1.058	T	0.019	T	0.196	1.839	12.11	1.18	0.242	-1.150	5.412	0.050	.	.	0.00738818	0.0023	0.0199	0.0010	0.0011	0.0002	0.0008	0.0011	0.0004	0.0023674	366	154602	rs28381969	0.0005	0.0025	0.0006	0.0005	0.0166	0.0005	0.0005	0.0155	0.0150	0.0166	0.0009	3.851e-05	0.0007	1.892e-05	0.0017	6.211e-05	0.0011	0.0001	0.0051	0.0069	0.0053	0.0049	0.0170	0.0048	0.0047	0.0159	0.0155	0.0170	0.0011	0.0019	0	0.0004	0.0002	0	0.0003	0.0039	0.0009	0.052	0.39097	T	0.064	0.44905	T	.	.	.	.	.	.	0.909636	0.08562	N	0.943966	1	0.08975	N	.	.	.	1.86	0.24285	T	-1.82	0.42763	N	0.083	0.06059	-1.0585	0.12134	T	0.019	0.07800	T	10	0.007758647	0.00176	T	.	.	.	0.050	0.13987	.	.	0.368369118721	0.36443	0.3310671259986031	0.33019	0.739199071981	0.63150	0.388226807117	0.23420	T	.	.	.	-0.549016	0.00296	T	-0.546463	0.17666	T	0.0134818694337928	0.00246	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.07889	B	.;.;.;.	.;.;.;.	1.045824	0.14265	10.84	0.98054006013503525	0.37890	0.05461	0.11341	N	AEFBI	0.136440	0.25711	N	-0.573308336906302	0.19759	1.036612	-0.707290838073551	0.16779	0.8892278	2.09079022980424E-6	0.01202	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.29	1.18	0.20058	-1.160000	0.03258	-3.011000	0.03143	0.265000	0.18437	0.000000	0.06391	0.000000	0.08366	0.144000	0.20092	0.1897:0.0:0.8103:0.0	5.412	0.15655	970	0.06235	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2100.98	96	chr19	5843866	.	G	A	2100.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.24;DP=1448;ExcessHet=0.0000;FS=5.988;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.33;MQRankSum=-9.490e-01;QD=14.10;ReadPosRankSum=-7.810e-01;SOR=0.673	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr19	5866928	5866928	G	-	exonic	FUT5	.	frameshift deletion	FUT5:NM_002034:exon2:c.798delC:p.D267Tfs*64,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.692e-05	0	8.697e-05	0	0	1.546e-05	0	0	1.29e-05	2	154602	rs765697026	2.053e-06	2.052e-06	2.723e-06	1.375e-06	2.237e-05	5.5e-07	1.5e-07	.	.	0	2.237e-05	0	0	0	0	8.994e-07	1.656e-05	0	1.979e-05	1.969e-05	3.869e-05	0	0.0002	5.26e-06	2.46e-06	5.298e-05	2.838e-05	0	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2759.94	60	chr19	5866927	.	CG	C	2759.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=1672;ExcessHet=0.0000;FS=1.782;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.89;MQRankSum=-3.659e+00;QD=13.08;ReadPosRankSum=-1.338e+00;SOR=0.850	GT:AD:DP:GQ:PL	0/0:115,0:115:99:0,120,1800	20	0	1	0
chr19	5867080	5867080	C	T	exonic	FUT5	.	nonsynonymous SNV	FUT5:NM_002034:exon2:c.G646A:p.D216N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.0	B	0.006	B	0.599	N	1.000	N	0.59	N	1.94	T	-0.948	T	0.023	T	0.031	-0.972	0.304	-3.3	-0.890	-1.389	6.600	0.001	0.00123414128392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.475e-06	1.436e-05	0	1.101e-05	9.279e-05	2.36e-06	1.7e-06	4.58e-05	3.273e-05	0	0	0	0	0	0	0	0	9.279e-05	1.314e-05	1.969e-05	1.286e-05	1.344e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.987	0.01979	T	0.733	0.05109	T	.	.	.	.	.	.	0.598887	0.10978	N	0.787374	1	0.08975	N	.	.	.	1.94	0.22678	T	0.6	0.02518	N	0.065	0.03726	-0.9482	0.41279	T	0.023	0.09787	T	10	0.050031364	0.04678	T	0.001234	0.01633	T	0.001	0.00016	0.371	0.38176	0.171388866994	0.16791	0.12992962753510628	0.12917	0.506698625975	0.48868	0.36787173152	0.20526	T	.	.	.	-0.416805	0.01793	T	-0.836488	0.01153	T	0.0508287188640249	0.05645	T	0.0429957	0.00302	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08705	B	.;.	.;.	-0.888587	0.00945	0.036	0.53178945119111554	0.04889	0.03640	0.08888	N	AEFBI	0.044233	0.07091	N	-1.60895166671726	0.01220	0.05306925	-1.6928570057843	0.01169	0.05260727	2.87556436707656E-4	0.06355	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	2.13	-3.3	0.04692	-0.967000	0.03931	-3.260000	0.02927	-2.170000	0.00366	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4661:0.0:0.5339	6.600	0.21887	946	0.12043	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	56.98	60	chr19	5867080	.	C	T	56.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.37;DP=1718;ExcessHet=0.0000;FS=3.222;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=49.26;MQRankSum=-3.245e+00;QD=0.59;ReadPosRankSum=-3.275e+00;SOR=1.383	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:115,0:115:99:.:.:0,120,1800	20	0	1	0
chr19	5914468	5914468	C	T	exonic	CAPS	.	nonsynonymous SNV	CAPS:NM_004058:exon2:c.C62T:p.S21L	.	.	.	.	.	.	.	.	.	.	.	2333737	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.22	T	0.003	B	0.003	B	0.011	N	1.000	N	1.75	L	0.89	T	-1.023	T	0.110	T	0.19	2.633	14.77	0.484	0.217	1.719	5.235	0.041	0.00630102347933	.	.	3.359e-05	0	8.664e-05	0	0	3.07e-05	0	6.186e-05	2.59e-05	4	154602	rs781604890	9.453e-05	9.44e-05	9.675e-05	9.228e-05	0.0001	8.145e-05	7.661e-05	9.76e-05	9.166e-05	5.978e-05	0.0001	0	0	0	0	0.0001	4.972e-05	1.16e-05	8.541e-05	8.536e-05	8.992e-05	8.068e-05	0.0001	4.956e-05	3.962e-05	7.908e-05	5.994e-05	2.412e-05	0	6.543e-05	0	0	9.409e-05	0	0.0001	0	0	.	.	.	0.221	0.38742	T	.	.	.	.	.	.	0.010523	0.29887	N	0.274206	1	0.08975	N	.	.	.	0.86	0.54911	T	.	.	.	0.275	0.34981	-1.0228	0.22802	T	0.110	0.39675	T	10	0.11395633	0.21425	T	0.006301	0.16551	T	0.041	0.10877	.	.	0.576407682716	0.57309	.	.	.	.	0.391568481922	0.23890	T	0.066513	0.32965	T	-0.320373	0.06866	T	-0.472268	0.25272	T	0.582565903663635	0.35717	D	0.823018	0.50110	T	0.05943416	0.12078	0.076257	0.16872	0.05943416	0.12078	0.076257	0.16871	-5.213	0.39074	T	.	.	0.215	0.44397	B	.;.;.	.;.;.	2.399310	0.30823	18.55	0.99353161693949132	0.60697	0.17536	0.19879	N	AEFDBCI	0.104741	0.20949	N	-0.591544871096551	0.19200	1.003019	-0.570358238057712	0.20267	1.091168	0.999995960244611	0.74766	0.536635	0.22144	0	0.577304	0.33150	0	0.489635	0.07774	0	0.664235	0.64389	0	.	.	5.35	0.484	0.16035	2.605000	0.45947	-0.563000	0.08467	0.599000	0.40250	0.308000	0.25396	0.000000	0.08366	0.291000	0.24285	0.0:0.5761:0.1495:0.2743	5.235	0.14762	867	0.32089	EF-hand domain;.;EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2384.98	33	chr19	5914468	.	C	T	2384.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.32;DP=908;ExcessHet=0.0000;FS=1.070;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=-2.320e-01;SOR=0.611	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1279	20	0	1	0
chr19	5925710	5925710	C	T	exonic	RANBP3	.	nonsynonymous SNV	RANBP3:NM_001300865:exon9:c.G622A:p.D208N	.	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.98	D	0.564	P	0.004	N	1.000	N	2.14	M	2.17	T	-1.039	T	0.078	T	0.029	3.310	17.13	3.07	0.698	2.911	8.220	0.093	0.0195742054092	0.0055	0.00339457	0.0029	0.0068	0.0012	0	0.0008	0.0035	0.0022	0.0020	0.0031177	482	154602	rs115320782	0.0036	0.0036	0.0036	0.0036	0.0082	0.0035	0.0035	0.0074	0.0071	0.0082	0.0019	0.0018	0	0.0006	0.0080	0.0039	0.0039	0.0023	0.0048	0.0048	0.0050	0.0046	0.0081	0.0045	0.0044	0.0074	0.0071	0.0081	0	0.0040	0.0023	0	9.497e-05	0.0034	0.0045	0.0033	0.0023	0.005	0.65419	D	0.472	0.23707	T	0.98	0.59353	D	0.467	0.49695	P	0.003787	0.34487	N	0.328805	1	0.08975	N	2.25	0.63811	M	1.4	0.33630	T	-0.04	0.09965	N	0.255	0.32701	-1.0388	0.17678	T	0.078	0.30982	T	10	0.004562199	0.00095	T	0.019574	0.41966	T	0.093	0.26882	.	.	0.679392915212	0.67666	0.28106345326371174	0.28019	0.482718603347	0.47231	0.426327586174	0.28706	T	0.037776	0.24600	T	-0.61119	0.00125	T	-0.64417	0.09368	T	0.0221803522844544	0.00930	T	0.90061	0.66351	D	0.038662925	0.05192	0.04200048	0.04901	0.038662925	0.05192	0.04200048	0.04901	-3.708	0.20417	T	.	.	0.065	0.09045	B	.;.;.;.;.	.;.;.;.;.	2.974667	0.39663	21.0	0.99605643164038427	0.74456	0.42326	0.26853	N	AEFBI	0.197326	0.32426	N	-0.173321446461632	0.34248	1.952552	-0.298994844908106	0.28132	1.566118	0.998059588828668	0.36367	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.19	3.07	0.34476	2.972000	0.48948	3.288000	0.37283	0.599000	0.40250	0.550000	0.27346	0.993000	0.31925	0.106000	0.18562	0.0:0.8159:0.0:0.1841	8.220	0.30692	862	0.33134	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3753.11	40	chr19	5925710	.	C	T	3753.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.86;DP=999;ExcessHet=0.1072;FS=12.799;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=-5.370e-01;SOR=1.289	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1302	19	0	2	0
chr19	5931429	5931429	G	C	exonic	RANBP3	.	nonsynonymous SNV	RANBP3:NM_001300865:exon7:c.C464G:p.A155G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.07	B	0.023	B	0.281	N	1.000	N	0	N	2.21	T	-1.021	T	0.043	T	0.089	1.220	9.951	2.4	0.448	0.372	7.655	0.024	0.0149100908452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	1.368e-06	0	2.754e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.998e-07	0	0	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.008	0.58626	D	0.402	0.18903	T	0.07	0.23866	B	0.023	0.19966	B	0.280732	0.03832	N	1.541880	1	0.08975	N	0.895	0.22405	L	1.47	0.32238	T	-0.44	0.22727	N	0.124	0.15469	-1.0207	0.23486	T	0.043	0.18410	T	10	0.05209562	0.05192	T	0.01491	0.35329	T	0.024	0.04979	0.117	0.02508	0.412434490787	0.40856	0.10940687521098946	0.10869	0.486089516762	0.47482	0.369136691093	0.20709	T	0.048093	0.27915	T	-0.258639	0.13059	T	-0.609293	0.12043	T	0.0798596721925946	0.09969	T	0.856214	0.54939	D	0.07901823	0.18028	0.06089924	0.11671	0.07901823	0.18027	0.06089924	0.11671	-3.732	0.21223	T	.	.	0.086	0.14293	B	.;.;.;.;.	.;.;.;.;.	1.273128	0.16720	12.72	0.88579344731404985	0.18088	0.07617	0.13626	N	AEFBI	0.103376	0.20713	N	-0.986406697519456	0.08893	0.4187593	-0.971141549688822	0.10436	0.5256424	0.911819512228557	0.26377	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	4.59	2.4	0.28568	0.882000	0.27824	2.776000	0.34703	0.671000	0.69459	0.075000	0.22209	0.919000	0.28284	0.051000	0.15275	0.0:0.1798:0.634:0.1862	7.655	0.27536	862	0.33134	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1453.98	35	chr19	5931429	.	G	C	1453.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.230e+00;DP=827;ExcessHet=0.0000;FS=1.396;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=-3.640e-01;SOR=0.540	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1353	20	0	1	0
chr19	6008177	6008177	A	C	exonic	RFX2	.	nonsynonymous SNV	RFX2:NM_134433:exon9:c.T988G:p.F330V	.	.	423	1091	8	0	0	8	0.00365297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.0	B	0.0	B	0.586	N	1.000	N	-1.265	N	0.04	T	-1.064	T	0.008	T	0.67	-0.781	0.729	0.556	-0.058	-0.718	4.790	0.321	.	0.0018	0.0169728	0.0151	0.0014	0.0058	0.1148	0.0068	0.0042	0.0056	0.0094	0.0048318	747	154602	rs79564339	0.0048	0.0047	0.0047	0.0049	0.0675	0.0047	0.0046	0.0654	0.0645	0.0003	0.0014	0.0014	0.0675	0.0009	0.0072	0.0028	0.0051	0.0082	0.0044	0.0044	0.0039	0.0049	0.0710	0.0041	0.0040	0.0651	0.0627	0.0009	0	0.0020	0.0003	0.0710	0.0004	0	0.0025	0.0052	0.0101	0.498	0.07797	T	0.56	0.09655	T	0.0	0.02946	B	0.0	0.01387	B	0.585983	0.11096	N	0.828584	1	0.08975	N	-1.445	0.00556	N	0.04	0.62051	T	1.38	0.00857	N	0.085	0.09772	-1.0644	0.10689	T	0.008	0.02842	T	10	0.0018848479	0.00025	T	.	.	.	0.321	0.64318	.	.	0.813627679482	0.81187	0.35551193779304247	0.35465	1.04129319823	0.75806	0.346013367176	0.17333	T	0.014962	0.12641	T	-0.394622	0.02511	T	-0.285363	0.46252	T	0.000298167129464406	0.00002	T	0.0150585	0.00109	T	0.056737933	0.11204	0.033177245	0.02169	0.056737933	0.11203	0.033177245	0.02169	2.306	0.00039	T	.	.	0.044	0.00061	B	.;.;.;.	.;.;.;.	-0.449036	0.02035	0.184	0.323510325679078	0.01870	0.00904	0.03537	N	AEFDBI	0.038321	0.05405	N	-1.37568874315526	0.02867	0.1272355	-1.30059675753161	0.04423	0.2085993	0.0154891403596548	0.12719	0.651	0.46895	0	0.588015	0.36545	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.07	0.556	0.16442	-0.681000	0.05292	-3.997000	0.02404	-0.175000	0.10903	0.000000	0.06391	0.000000	0.08366	0.634000	0.32262	0.1402:0.5355:0.0:0.3243	4.790	0.12614	923	0.18507	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	598.98	42	chr19	6008177	.	A	C	598.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.270e-01;DP=772;ExcessHet=0.0000;FS=3.601;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.82;ReadPosRankSum=-1.262e+00;SOR=1.190	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1150	20	0	1	0
chr19	6380927	6380927	G	A	exonic	GTF2F1	.	nonsynonymous SNV	GTF2F1:NM_002096:exon11:c.C1208T:p.A403V,	.	.	421	1096	4	1	0	6	0.00272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	1.0	D	0.998	D	0.000	D	1.000	D	1.87	L	0.89	T	-0.755	T	0.225	T	0.449	3.729	18.94	4.46	2.188	6.739	16.259	0.309	.	0.0002	0.000798722	0.0041	0.0003	0.0009	0	0	0.0007	0	0.0163	0.0010802	167	154602	rs201144023	0.0007	0.0007	0.0004	0.0010	0.0090	0.0006	0.0006	0.0084	0.0082	9.213e-05	0	0.0025	2.621e-05	0	0.0022	9.52e-05	0.0008	0.0090	0.0004	0.0004	0.0004	0.0005	0.0087	0.0003	0.0003	0.0066	0.0059	9.624e-05	0	0	0.0029	0	0	0	0.0001	0	0.0087	0.042	0.41637	D	0.152	0.42261	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.11	0.58565	M	0.89	0.45636	T	-2.12	0.48184	N	0.506	0.53796	-0.7548	0.57683	T	0.225	0.58919	T	10	0.010064483	0.00225	T	.	.	.	0.309	0.63055	.	.	0.7488396341	0.74657	0.4955695414793611	0.49477	0.891943810357	0.70256	0.674153149128	0.63429	T	0.098063	0.40151	T	-0.391696	0.02623	T	-0.328029	0.41689	T	0.0274560688279729	0.01609	T	0.906109	0.66926	D	0.23868182	0.46748	0.2316526	0.48303	0.23868182	0.46748	0.2316526	0.48302	-7.014	0.54136	T	.	.	0.234	0.54492	B	.;.	.;.	4.731597	0.76216	26.5	0.99908225160522568	0.97801	0.95257	0.64022	D	AEFBCI	0.662401	0.63228	D	0.414637533372802	0.62227	4.435181	0.297945784762991	0.55418	3.704984	0.999999894881297	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.46	4.46	0.53567	5.819000	0.68924	11.526000	0.93067	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.135000	0.19760	0.0:0.0:1.0:0.0	16.259	0.82356	748	0.52143	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	222.98	34	chr19	6380927	.	G	A	222.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.069;DP=698;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=-2.472e+00;SOR=0.663	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1338	20	0	1	0
chr19	6380979	6380979	G	A	exonic	GTF2F1	.	nonsynonymous SNV	GTF2F1:NM_002096:exon11:c.C1156T:p.R386C,	.	.	423	1090	9	0	0	9	0.00411147	.	.	2193921	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.116	B	0.049	B	0.000	D	1.000	D	2.365	M	0.6	T	-0.851	T	0.161	T	0.698	2.789	15.29	3.42	1.001	6.680	6.967	0.247	0.236245696517	0.0002	0.000199681	0.0007	0	0.0009	0	0	0.0007	0.0021	0.0012	0.0002975	46	154602	rs143977043	0.0003	0.0003	0.0002	0.0003	0.0065	0.0002	0.0002	0.0049	0.0043	2.996e-05	0.0005	0	0	3.828e-05	0.0065	0.0002	0.0005	0.0005	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0001	0.0003	0.0002	2.406e-05	0	0.0005	0	0	0	0	0.0002	0.0019	0.0006	0.0	0.91255	D	0.005	0.72224	D	0.018	0.17786	B	0.011	0.15521	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.96	0.53105	M	0.6	0.53731	T	-4.19	0.75615	D	0.609	0.62611	-0.8506	0.51926	T	0.161	0.49565	T	10	0.06654683	0.09145	T	0.236246	0.88491	D	0.247	0.55478	.	.	0.636863403956	0.63387	0.4366674256342794	0.43583	1.05154938784	0.76170	0.741911053658	0.73254	T	0.357376	0.72409	T	-0.159258	0.26873	T	-0.102377	0.63214	T	0.164372265338898	0.18189	T	0.90061	0.65471	D	0.61107814	0.73285	0.37903827	0.62967	0.61107814	0.73286	0.37903827	0.62967	-8.926	0.67219	D	.	.	0.628	0.71754	P	.;.	.;.	5.449923	0.91039	32	0.99826892537896306	0.90939	0.94175	0.60340	D	AEFDBCI	0.770420	0.70538	D	-0.214242194363516	0.32548	1.836802	-0.161112995810456	0.32982	1.881973	0.855252726918186	0.25120	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.46	3.42	0.38259	5.656000	0.67659	6.402000	0.55579	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.768000	0.36443	0.0922:0.0:0.7364:0.1714	6.967	0.23806	748	0.52143	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	793.98	34	chr19	6380979	.	G	A	793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.050e-01;DP=757;ExcessHet=0.0000;FS=3.667;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=-2.417e+00;SOR=0.337	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1338	20	0	1	0
chr19	6432101	6432101	G	A	exonic	SLC25A41	.	nonsynonymous SNV	SLC25A41:NM_173637:exon2:c.C311T:p.A104V,	.	.	428	1086	8	0	0	8	0.00366972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.994	D	0.846	P	0.000	D	1.000	D	1.725	L	-1.37	T	0.052	D	0.480	T	0.653	4.533	24.4	4.62	2.396	7.196	16.375	0.681	.	0.0067	0.00419329	0.0069	0.0017	0.0027	0.0001	0.0065	0.0104	0.0045	0.0025	0.006921	1070	154602	rs150991235	0.0090	0.0090	0.0092	0.0088	0.0105	0.0088	0.0088	0.0104	0.0103	0.0012	0.0032	0.0033	0	0.0063	0.0021	0.0105	0.0080	0.0035	0.0064	0.0064	0.0069	0.0058	0.0110	0.0060	0.0059	0.0103	0.0101	0.0014	0	0.0048	0.0020	0.0002	0.0059	0	0.0110	0.0047	0.0025	0.08	0.33585	T	0.035	0.52389	D	0.994	0.66517	D	0.846	0.60472	P	0.000019	0.62929	D	0.066049	1	0.81001	D	1.745	0.45235	L	-1.37	0.80214	T	-3.15	0.64132	D	0.684	0.69037	0.052	0.83272	D	0.480	0.80124	T	10	0.016352922	0.00344	T	.	.	.	0.681	0.88300	.	.	0.631438196984	0.62842	0.4244616758032431	0.42363	0.221065688482	0.24653	0.522127866745	0.41926	T	0.20593	0.56513	T	-0.178185	0.24006	T	-0.018339	0.69138	D	0.00936161113568234	0.00120	T	0.982702	0.94130	D	0.3212692	0.54747	0.29901394	0.55934	0.3212692	0.54746	0.29901394	0.55934	-8.083	0.61635	D	.	.	0.214	0.44358	B	.	.	4.307601	0.65821	24.9	0.99927452651785742	0.99163	0.97203	0.73298	D	AEFBI	0.877814	0.80268	D	0.555245156009932	0.70402	5.496262	0.515638785235919	0.69041	5.30412	0.999995669123339	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.667671	0.60360	0	0.567892	0.33627	0	.	.	4.62	4.62	0.56946	7.932000	0.87091	4.393000	0.43220	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.811000	0.38219	0.0:0.0:1.0:0.0	16.375	0.83215	818	0.41518	.	.	.	.	.	rs150991235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2399.11	111	chr19	6432101	.	G	A	2399.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.44;DP=897;ExcessHet=0.1072;FS=1.047;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.71;ReadPosRankSum=0.366;SOR=0.611	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1216	19	0	2	0
chr19	6467617	6467617	G	A	exonic	DENND1C	.	nonsynonymous SNV	DENND1C:NM_001290331:exon21:c.C2161T:p.R721W	.	.	.	.	.	.	.	.	.	.	.	2374163	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.19	T	0.092	B	0.003	B	0.002	N	1.000	N	0	N	3.05	T	-1.051	T	0.019	T	0.119	1.958	12.51	3.38	1.907	1.795	10.502	0.077	0.0095735999313	0.0002	0.000399361	8.224e-05	0.0010	0	0	0	0	0	0	7.12e-05	11	154602	rs374565278	4.025e-05	4.583e-05	5.039e-05	2.992e-05	0.0012	3.145e-05	2.872e-05	0.0009	0.0008	0.0012	8.614e-05	0	0	1.916e-05	0	2.744e-06	8.576e-05	8.903e-05	0.0003	0.0003	0.0003	0.0002	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	0.0001	0	0	0	0	1.47e-05	0.0005	0.0002	0.021	0.49117	D	0.018	0.59732	D	0.092	0.25296	B	0.003	0.08700	B	0.001815	0.00828	N	4.120030	1	0.08975	N	0	0.06538	N	3.05	0.10291	T	-0.53	0.16393	N	0.084	0.12770	-1.0506	0.14230	T	0.019	0.08126	T	10	0.016964525	0.00360	T	0.009574	0.25039	T	0.077	0.22490	.	.	0.137902524267	0.13322	0.1093282701462729	0.10861	0.0566683192148	0.06263	0.275156855583	0.06827	T	0.002409	0.01807	T	-0.573303	0.00211	T	-0.663763	0.08015	T	0.0262225927540849	0.01436	T	0.423058	0.11286	T	0.064877644	0.13809	0.041405663	0.04698	0.064877644	0.13808	0.041405663	0.04697	-4.021	0.26039	T	.	.	0.076	0.08609	B	.;.	.;.	2.138973	0.27237	17.39	0.9847418268621595	0.41896	0.12018	0.17008	N	AEFDBI	0.190449	0.31768	N	-0.86707965265971	0.11632	0.5624055	-0.854808395728296	0.13172	0.6818816	0.954975229305206	0.28162	0.706298	0.61202	0	0.643519	0.57511	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	3.38	3.38	0.37806	2.014000	0.40571	2.384000	0.32503	0.618000	0.50648	0.015000	0.19116	0.055000	0.21918	0.001000	0.02609	0.0:0.0:1.0:0.0	10.502	0.44002	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1232.98	33	chr19	6467617	.	G	A	1232.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.20;DP=783;ExcessHet=0.0000;FS=6.477;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=0.415;SOR=1.088	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,114,1222	20	0	1	0
chr19	6534749	6534749	C	T	exonic	TNFSF9	.	nonsynonymous SNV	TNFSF9:NM_003811:exon3:c.C448T:p.R150W,	.	.	414	1081	27	0	0	27	0.0123344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.967	D	0.257	B	0.407	U	1.000	N	0	N	-3.73	D	-0.006	T	0.638	D	0.178	1.776	11.90	1.5	0.828	-0.327	8.476	0.256	0.156715041905	0.0002	0.000599042	0.0016	0.0002	0.0013	0.0009	0	0.0007	0.0077	0.0048	0.000608	94	154602	rs77313944	0.0005	0.0005	0.0003	0.0007	0.0043	0.0005	0.0005	0.0040	0.0038	6.029e-05	7.121e-05	0.0029	0.0006	0	0.0040	0.0001	0.0011	0.0043	0.0004	0.0004	0.0003	0.0004	0.0052	0.0003	0.0003	0.0036	0.0031	0.0001	0	6.541e-05	0.0026	0.0012	0	0	0.0002	0	0.0052	0.012	0.54683	D	0.006	0.70582	D	0.967	0.56408	D	0.257	0.39298	B	0.407458	0.04571	U	1.486760	1	0.08975	N	0.345	0.11182	N	-3.73	0.95458	D	-3.58	0.69118	D	0.133	0.12913	-0.0060	0.82132	T	0.638	0.87344	D	10	0.014418662	0.00303	T	0.156715	0.83744	D	0.256	0.56694	.	.	0.814758757958	0.81302	0.4046565733981127	0.40381	0.104834384068	0.11861	0.353660434484	0.18459	T	0.65478	0.89567	D	-0.31116	0.07648	T	-0.22121	0.52620	T	0.0678301304311287	0.08344	T	0.359864	0.08266	T	0.42899168	0.62686	0.21123959	0.45544	0.42899168	0.62687	0.21123959	0.45543	-7.576	0.58143	D	.	.	0.182	0.39477	B	.	.	1.624958	0.20752	14.89	0.99018241354323389	0.50527	0.06716	0.12738	N	AEFDBHCI	0.055189	0.10098	N	-0.640434869499832	0.17739	0.915376	-0.74969168509557	0.15730	0.8287335	0.999977776660373	0.50053	0.685219	0.55550	0	0.672317	0.65289	0	0.674405	0.61402	0	0.655142	0.61905	0	.	.	4.13	1.5	0.22029	-0.875000	0.04314	0.184000	0.15665	0.526000	0.24426	0.000000	0.06391	0.005000	0.19230	0.010000	0.09038	0.5435:0.4565:0.0:0.0	8.476	0.32173	964	0.07719	Tumour necrosis factor domain|Tumour necrosis factor domain|Tumour necrosis factor domain|Tumour necrosis factor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1195.98	35	chr19	6534749	.	C	T	1195.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=804;ExcessHet=0.0000;FS=1.716;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=1.55;SOR=0.490	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1063	20	0	1	0
chr19	6734221	6734221	G	A	exonic	GPR108	.	nonsynonymous SNV	GPR108:NM_001080452:exon5:c.C461T:p.P154L,	.	.	410	1101	10	0	1	11	0.0045208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.894	P	0.258	B	0.853	U	0.999	D	2.24	M	1.93	T	-0.957	T	0.049	T	0.303	3.548	18.10	3.05	2.032	1.707	9.814	0.079	.	0.0048	0.00419329	0.0038	0.0009	0.0022	0.0003	0.0009	0.0046	0	0.0067	0.0040232	622	154602	rs139348331	0.0063	0.0063	0.0064	0.0062	0.0072	0.0062	0.0061	0.0071	0.0071	0.0009	0.0021	0.0001	7.557e-05	0.0011	0.0043	0.0072	0.0058	0.0065	0.0037	0.0037	0.0038	0.0035	0.0073	0.0034	0.0033	0.0054	0.0052	0.0012	0.0055	0.0032	0	0.0008	0.0009	0.0034	0.0059	0.0019	0.0073	0.22	0.18956	T	0.158	0.31629	T	0.894	0.49185	P	0.258	0.39350	B	0.853454	0.07072	U	1.085260	0.999493	0.47278	D	2.05	0.56469	M	1.93	0.22881	T	-1.02	0.26843	N	0.337	0.37820	-0.9572	0.39699	T	0.049	0.20868	T	10	0.00436759	0.00089	T	.	.	.	0.079	0.23065	.	.	0.484182897458	0.48051	0.26909468916475454	0.26822	0.233007264821	0.25837	0.354487329721	0.18580	T	0.012394	0.10902	T	-0.496014	0.00602	T	-0.481819	0.24253	T	0.0128035230507367	0.00218	T	0.663934	0.27277	T	0.036734853	0.04575	0.046493825	0.06491	0.036734853	0.04575	0.046493825	0.06491	-4.569	0.31779	T	.	.	0.074	0.05231	B	.	.	1.745668	0.22210	15.53	0.99745819510724698	0.83852	0.62166	0.31700	D	ALL	0.044639	0.07208	N	-0.107655233281546	0.37058	2.150687	-0.209886074529591	0.31180	1.762182	0.999999999976254	0.74766	0.643511	0.44296	0	0.643519	0.57511	0	0.688494	0.62686	0	0.591603	0.36755	0	.	.	3.05	3.05	0.34272	1.814000	0.38610	0.852000	0.22147	0.662000	0.56354	0.972000	0.34453	0.348000	0.24457	0.028000	0.12845	0.0:0.0:1.0:0.0	9.814	0.40010	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2970.11	39	chr19	6734221	.	G	A	2970.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.69;DP=955;ExcessHet=0.1072;FS=1.135;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.88;ReadPosRankSum=0.505;SOR=0.576	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	19	0	2	0
chr19	6734281	6734281	T	C	exonic	GPR108	.	nonsynonymous SNV	GPR108:NM_001080452:exon5:c.A401G:p.Q134R,	.	.	406	1106	9	1	0	11	0.00494827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.941	P	0.413	B	0.734	U	1.000	D	2.075	M	1.88	T	-1.068	T	0.050	T	0.211	2.471	14.22	3.92	1.648	2.137	9.065	0.100	.	0.0049	0.00419329	0.0039	0.0011	0.0023	0.0004	0.0010	0.0047	0	0.0068	0.0040038	619	154602	rs144129725	0.0063	0.0063	0.0064	0.0062	0.0072	0.0062	0.0061	0.0071	0.0070	0.0010	0.0021	0.0001	7.557e-05	0.0011	0.0042	0.0072	0.0058	0.0065	0.0037	0.0037	0.0038	0.0035	0.0075	0.0034	0.0033	0.0055	0.0052	0.0013	0.0055	0.0032	0	0.0008	0.0009	0.0034	0.0059	0.0019	0.0075	0.495	0.07870	T	0.493	0.11443	T	0.941	0.52883	P	0.413	0.44885	B	0.734258	0.09829	U	0.828605	1	0.81001	D	2.48	0.72069	M	1.88	0.23884	T	-1.57	0.37955	N	0.454	0.49146	-1.0682	0.09813	T	0.050	0.21261	T	10	0.0070121586	0.00160	T	.	.	.	0.100	0.28662	.	.	0.390687800842	0.38684	0.6046379522053114	0.60394	0.247364135573	0.27283	0.458822876215	0.33148	T	0.040168	0.25436	T	-0.533994	0.00364	T	-0.536514	0.18641	T	0.0191371003437567	0.00621	T	0.70113	0.31087	T	0.11732288	0.27659	0.08351023	0.19142	0.11732288	0.27659	0.08351023	0.19142	-3.365	0.14589	T	.	.	0.242	0.47622	B	.	.	2.495277	0.32200	18.97	0.99421346354934392	0.63790	0.75056	0.36733	D	AEFDGBHCI	0.103538	0.20740	N	0.0426731223370819	0.43806	2.666421	-0.00611738651292093	0.39437	2.33837	0.999999999913197	0.74766	0.643511	0.44296	0	0.643519	0.57511	0	0.688494	0.62686	0	0.591603	0.36755	0	.	.	3.92	3.92	0.44525	1.011000	0.29513	4.645000	0.44172	-0.123000	0.13640	0.986000	0.36153	1.000000	0.68203	0.016000	0.10718	0.0:0.0:0.0:1.0	9.065	0.35621	952	0.10565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1341.11	39	chr19	6734281	.	T	C	1341.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.252e+00;DP=846;ExcessHet=0.1072;FS=0.782;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=0.569;SOR=0.591	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	19	0	2	0
chr19	6937548	6937548	G	A	exonic	ADGRE1	.	nonsynonymous SNV	ADGRE1:NM_001256254:exon17:c.G2132A:p.R711Q	.	.	433	1088	1	0	0	1	0.000459348	.	.	3240876	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.55	T	0.966	D	0.368	B	.	.	0.745	N	1.425	L	0.41	T	-0.976	T	0.118	T	0.325	1.819	12.04	3.82	1.054	2.015	9.307	0.138	0.00376032641363	7.7e-05	0.000199681	0.0002	0	0.0002	0	0	0.0002	0	0.0007	0.0002199	34	154602	rs140342957	0.0002	0.0002	0.0001	0.0002	0.0007	0.0001	0.0001	0.0004	0.0004	5.974e-05	0.0003	0.0011	2.519e-05	0	0.0007	0.0001	0.0002	0.0005	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0002	0.0002	7.257e-05	0	0.0005	0.0012	0	0	0.0034	0.0002	0.0005	0.0004	0.079	0.40319	T	0.242	0.24549	T	0.704	0.44271	P	0.142	0.33681	B	.	.	.	.	0.744677	0.29699	N	.	.	.	0.41	0.57100	T	-2.51	0.54546	D	0.436	0.48504	-0.9764	0.35816	T	0.118	0.41451	T	9	0.057770878	0.06688	T	0.00376	0.08744	T	0.138	0.37187	.	.	0.552575064031	0.54915	0.5660398358018969	0.56531	0.198993207126	0.22291	0.336798369884	0.15957	T	0.190178	0.54463	T	-0.34075	0.05335	T	-0.366446	0.37303	T	0.116975719265024	0.14130	T	0.846715	0.54741	T	0.046531986	0.07804	0.05572789	0.09829	0.046531986	0.07803	0.05572789	0.09828	-8.369	0.65752	D	.	.	0.117	0.27493	B	.;.;.;.;.	.;.;.;.;.	2.618012	0.34018	19.51	0.99445533601323999	0.65021	0.55014	0.29758	D	AEFBI	0.200032	0.32679	N	-0.199646712812106	0.33150	1.877445	-0.213317075000598	0.31057	1.754119	9.18650484619897E-5	0.04910	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.86	3.82	0.43153	2.409000	0.44236	5.916000	0.51093	0.672000	0.70159	0.974000	0.34632	0.992000	0.31684	0.362000	0.25931	0.1011:0.0:0.8989:0.0	9.307	0.37040	970	0.06235	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	699.98	39	chr19	6937548	.	G	A	699.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=786;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.43;ReadPosRankSum=0.104;SOR=0.709	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1085	20	0	1	0
chr19	7019288	7019288	G	A	exonic	MBD3L2B	.	nonsynonymous SNV	MBD3L2B:NM_001364674:exon2:c.C488T:p.P163L,	.	.	483	1003	32	4	0	40	0.0195503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	.	.	.	.	0.117	N	1.000	N	.	.	.	.	-1.006	T	0.081	T	.	0.377	6.049	-4.51	-0.971	-0.413	3.179	0.064	.	.	0.00658946	0.0150	0.0012	0.0115	0.0065	0	0.0128	0.0114	0.0197	0.0019728	305	154602	rs377522880	0.0050	0.0045	0.0038	0.0059	0.0179	0.0048	0.0048	0.0170	0.0166	0.0006	0.0020	0.0244	0.0016	9.31e-05	0.0097	0.0025	0.0068	0.0179	0.0028	0.0029	0.0025	0.0031	0.0178	0.0025	0.0025	0.0146	0.0134	0.0003	0	0.0045	0.0260	0.0039	9.854e-05	0.0034	0.0020	0.0045	0.0178	.	.	.	.	.	.	.	.	.	.	.	.	0.117193	0.02692	N	2.156950	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-1.0059	0.28186	T	0.081	0.31854	T	6	0.004792005	0.00101	T	.	.	.	.	.	.	.	.	.	0.31987110972752	0.31900	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.454655	0.12977	T	0.04363344	0.06835	0.07398557	0.16137	0.04363344	0.06834	0.07398557	0.16137	-3.597	0.17813	T	.	.	0.086	0.10739	B	.;.	.;.	0.840878	0.12126	8.677	0.513626325724442	0.04549	0.00220	0.01242	N	AEFBI	.	.	.	-0.808078894078884	0.13103	0.6432139	-1.05272047173043	0.08650	0.4263698	1.99783207891912E-5	0.02871	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0429863	0.02266	2.25	-4.51	0.03237	-0.349000	0.07779	-4.649000	0.02051	0.489000	0.22316	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2104:0.0:0.3435:0.4461	3.179	0.06185	964	0.07719	Methyl-CpG binding protein 2/3, C-terminal domain;Methyl-CpG binding protein 2/3, C-terminal domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	356.04	9	chr19	7019288	.	G	A	356.04	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.848;DP=245;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0288;MLEAC=1;MLEAF=0.024;MQ=43.10;MQRankSum=0.669;QD=16.18;ReadPosRankSum=0.635;SOR=0.836	GT:AD:DP:GQ:PL	0/0:7,0:7:21:0,21,251	20	0	1	0
chr19	7032755	7032755	C	T	exonic	MBD3L5	.	nonsynonymous SNV	MBD3L5:NM_001136507:exon2:c.C488T:p.P163L,	.	.	939	570	12	1	0	14	0.0121317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.008	B	0.008	B	0.117	N	1.000	N	1.525	L	.	.	-1.037	T	0.088	T	0.168	-0.702	0.967	-3.3	-1.207	-0.481	3.650	0.032	0.00362205767171	.	.	0.0018	0	0	0	0	0.0030	0	0.0012	6.5e-06	1	154602	rs775760035	0.0031	0.0022	0.0024	0.0037	0.0104	0.0029	0.0029	0.0096	0.0093	0.0003	0.0013	0.0111	0.0003	0	0.0096	0.0020	0.0035	0.0104	0.0023	0.0014	0.0017	0.0030	0.0157	0.0019	0.0017	0.0078	0.0057	0	0	0.0030	0.0225	0	0	0.0128	0.0018	0.0031	0.0157	0.079	0.33753	T	0.048	0.48594	D	0.008	0.14655	B	0.008	0.13708	B	0.117193	0.02692	N	2.156950	0.999999	0.08975	N	0.695	0.17993	N	.	.	.	-2.02	0.46503	N	0.218	0.24385	-1.0373	0.18140	T	0.088	0.33968	T	9	0.004570663	0.00095	T	0.003622	0.08309	T	0.032	0.07718	0.342	0.33464	0.0551355673512	0.04727	0.39057892685247886	0.38972	.	.	0.436823695898	0.30144	T	0.039963	0.25369	T	-0.559425	0.00256	T	-0.568533	0.15585	T	0.00697805741738573	0.00079	T	0.454655	0.12977	T	0.050567735	0.09154	0.048343748	0.07162	0.050567735	0.09154	0.048343748	0.07161	-3.6	0.17857	T	.	.	0.076	0.06114	B	.	.	0.715101	0.10842	7.519	0.43210924728789046	0.03238	0.00115	0.00727	N	AEFI	0.020338	0.00793	N	-1.33596277550651	0.03273	0.1459117	-1.50080691978968	0.02339	0.1074006	9.90148809100885E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.65	-3.3	0.04692	-0.491000	0.06555	-2.587000	0.03577	0.401000	0.20554	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3034:0.4941:0.0:0.2025	3.650	0.07736	964	0.07719	Methyl-CpG binding protein 2/3, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.03125	74.65	13	chr19	7032755	.	C	T	74.65	.	AC=1;AF=0.031;AN=32;BaseQRankSum=2.82;DP=97;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.0503;MLEAC=1;MLEAF=0.031;MQ=29.97;MQRankSum=-1.803e+00;QD=7.46;ReadPosRankSum=2.82;SOR=1.329	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,56	15	0	1	5
chr19	7083547	7083547	C	T	exonic	ZNF557	.	nonsynonymous SNV	ZNF557:NM_001044387:exon8:c.C1096T:p.H366Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.892	P	.	.	1.000	N	3.855	H	-2.17	D	0.102	D	0.813	D	0.408	1.748	11.81	1.32	1.050	6.265	8.549	0.308	0.0167671570937	.	.	8.278e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs764790786	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.005	0.74150	D	0.998	0.73220	D	0.826	0.63276	P	.	.	.	.	0.999757	0.20482	N	3.46	0.92336	M	-2.17	0.86624	D	-6.0	0.89534	D	0.411	0.45142	0.102	0.84219	D	0.813	0.93701	D	9	0.72105336	0.73664	D	0.016767	0.38181	T	0.308	0.62947	0.715	0.85051	0.909513407726	0.90860	0.11405885459200515	0.11333	0.246522649584	0.27189	0.673878192902	0.63390	T	0.554181	0.84958	D	0.111981	0.65558	D	-0.0769228	0.65128	T	0.965709209442139	0.67350	D	0.867413	0.56831	D	0.28949997	0.51945	0.34895843	0.60528	0.28949997	0.51945	0.34895843	0.60528	-9.907	0.73365	D	.	.	0.960	0.88082	P	.;.	.;.	2.080799	0.26466	17.13	0.95224764204005263	0.26449	0.00026	0.00253	N	AEFDGBHCI	0.434996	0.49582	N	0.238884205364406	0.53093	3.479689	-0.0747164686180176	0.36438	2.120637	0.999977075651531	0.50053	0.460665	0.09802	0	0.552637	0.17590	0	0.486962	0.07600	0	0.636168	0.56350	0	.	.	1.32	1.32	0.20897	4.879000	0.62792	2.817000	0.34941	0.294000	0.18828	0.997000	0.40164	0.999000	0.35428	0.005000	0.06747	0.0:1.0:0.0:0.0	8.549	0.32598	946	0.12043	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1294.98	44	chr19	7083547	.	C	T	1294.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.694;DP=795;ExcessHet=0.0000;FS=3.836;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.49;ReadPosRankSum=0.334;SOR=0.797	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1387	20	0	1	0
chr19	7125507	7125507	C	T	exonic	INSR	.	nonsynonymous SNV	INSR:NM_001079817:exon16:c.G2998A:p.V1000M	Diabetes mellitus, insulin-resistant, with acanthosis nigricans;Hyperinsulinemic hypoglycemia, familial, 5, Autosomal dominant;Leprechaunism, Autosomal recessive;Rabson-Mendenhall syndrome, Autosomal recessive	.	0	1450	72	0	0	72	0.0242261	.	.	29746	Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans|Bailey-Bloch_congenital_myopathy|Leprechaunism_syndrome|Rabson-Mendenhall_syndrome|not_specified|Type_2_diabetes_mellitus|Monogenic_diabetes|not_provided	MONDO:MONDO:0012520,MedGen:C0342278,OMIM:610549,Orphanet:2297|MONDO:MONDO:0009722,MedGen:C1850625,OMIM:255995,Orphanet:168572|MONDO:MONDO:0009517,MedGen:C0265344,OMIM:246200,Orphanet:508|MONDO:MONDO:0009874,MedGen:C0271695,OMIM:262190,Orphanet:769|MedGen:CN169374|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.998	D	0.768	P	0.001	D	0.925	A	2.475	M	-2.51	D	0.644	D	0.669	D	0.74	4.180	21.6	5.06	2.638	3.050	9.350	0.634	.	0.0064	0.00499201	0.0090	0.0018	0.0021	0	0.0067	0.0093	0.0111	0.0225	0.0084346	1304	154602	rs1799816	0.0078	0.0078	0.0070	0.0085	0.0231	0.0076	0.0076	0.0222	0.0219	0.0012	0.0022	0.0161	5.038e-05	0.0069	0.0165	0.0070	0.0084	0.0231	0.0054	0.0054	0.0054	0.0054	0.0178	0.0051	0.0050	0.0148	0.0137	0.0013	0	0.0047	0.0147	0.0002	0.0059	0.0170	0.0071	0.0047	0.0178	0.003	0.68238	D	0.016	0.60972	D	0.998	0.73220	D	0.768	0.56752	P	0.000878	0.41335	D	0.000000	0.925322	0.36801	A	2.875	0.83380	M	-2.51	0.89293	D	-2.42	0.53096	N	0.437	0.47580	0.644	0.92468	D	0.669	0.88531	D	9	0.010013849	0.00224	T	.	.	.	0.634	0.85975	.	.	0.952044451625	0.95153	0.5662976708801534	0.56557	1.39719179774	0.85110	0.765782415867	0.76792	T	0.663144	0.89916	D	-0.0943111	0.37363	T	0.108672	0.77484	D	0.0531365021631275	0.06042	T	0.915508	0.69822	D	0.26451603	0.49519	0.32346871	0.58278	0.36734384	0.58388	0.22650576	0.47629	-9.917	0.73413	D	0.4521786783482736	0.53580	0.193	0.41357	B	.;.	.;.	4.485617	0.70018	25.5	0.99905905516237403	0.97651	0.90575	0.51865	D	AEFDBI	0.348033	0.44230	N	0.624024580061145	0.74697	6.176896	0.605951008884235	0.75372	6.298788	0.99957825998006	0.40495	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.662433	0.64102	0	.	.	5.06	5.06	0.67838	2.609000	0.45981	7.593000	0.61311	0.599000	0.40250	0.987000	0.36337	1.000000	0.68203	0.989000	0.64315	0.0:0.9053:0.0:0.0947	9.350	0.37291	889	0.27310	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	2115.98	38	chr19	7125507	.	C	T	2115.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.19;DP=1012;ExcessHet=0.0000;FS=2.102;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=-6.800e-02;SOR=0.878	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1365	20	0	1	0
chr19	7383105	7383105	G	A	exonic	ARHGEF18	.	nonsynonymous SNV	ARHGEF18:NM_001367823:exon10:c.G869A:p.R290Q,	.	.	492	1027	3	0	0	3	0.00145843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01877	0.0068	0	0.0319	0.1094	0	0.0011	0	0	0.0024126	373	154602	rs147885114	0.0026	0.0021	0.0027	0.0026	0.0895	0.0026	0.0025	0.0842	0.0820	0.0008	0.0895	0.0010	0.0647	4.63e-05	0.0007	0.0001	0.0052	0.0018	0.0097	0.0097	0.0080	0.0115	0.0736	0.0093	0.0091	0.0701	0.0686	0.0017	0	0.0736	0.0017	0.0434	0	0	0.0003	0.0057	0.0033	.	.	.	0.18	0.29442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.04790	.	.	.	.	.	.	.	0.0020921528	0.00030	T	.	.	.	.	.	.	.	0.178374595973	0.17440	.	.	.	.	.	.	.	.	.	.	-0.649328	0.00073	T	-0.655234	0.08592	T	.	.	.	0.739426	0.35812	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12323	B	.	.	1.772788	0.22541	15.66	0.99178214782613017	0.54585	0.01684	0.05373	N	AEFBI	0.063734	0.12334	N	.	.	.	.	.	.	0.00752835391992406	0.11486	0.648878	0.45929	0	0.550933	0.16991	0	0.596394	0.31383	0	0.542086	0.14980	0	.	.	5.03	-2.84	0.05408	-0.168000	0.09914	0.129000	0.15021	0.676000	0.76740	0.044000	0.21163	0.000000	0.08366	0.335000	0.25317	0.4216:0.1358:0.4426:0.0	5.444	0.15824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2370.11	35	chr19	7383105	.	G	A	2370.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.04;DP=961;ExcessHet=0.1072;FS=0.555;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.74;ReadPosRankSum=1.11;SOR=0.768	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	19	0	2	0
chr19	7501046	7501046	G	C	exonic	TEX45	.	nonsynonymous SNV	TEX45:NM_198534:exon2:c.G224C:p.R75P,	.	.	428	1063	30	1	0	32	0.0148285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.0	B	0.0	B	0.024	N	1.000	N	0.69	N	2.54	T	-1.021	T	0.013	T	0.148	0.811	8.261	-7.52	-3.106	-1.370	1.713	0.027	.	.	0.00599042	0.0142	0.0089	0.0094	0	0	0.0054	0.0370	0.0176	0.0025938	401	154602	rs187442624	0.0076	0.0073	0.0073	0.0079	0.0187	0.0075	0.0074	0.0179	0.0175	0.0009	0.0027	0.0016	3.042e-05	0.0040	0.0101	0.0077	0.0063	0.0187	0.0050	0.0050	0.0052	0.0049	0.0207	0.0047	0.0046	0.0174	0.0162	0.0011	0.0044	0.0031	0.0012	0	0.0044	0.0034	0.0076	0.0028	0.0207	0.279	0.15561	T	0.326	0.32891	T	0.0	0.02946	B	0.0	0.01387	B	0.023544	0.01594	N	2.348000	1	0.08975	N	.	.	.	2.54	0.13916	T	-0.52	0.16187	N	0.108	0.09349	-1.0208	0.23454	T	0.013	0.05081	T	10	0.003307104	0.00057	T	.	.	.	0.027	0.05988	.	.	0.0401082797425	0.02173	0.29969852726773616	0.29882	1.84427142006	0.92201	.	.	.	0.004008	0.03423	T	-0.644778	0.00078	T	-0.685329	0.06663	T	0.0103138857826821	0.00141	T	0.247975	0.03672	T	0.14525783	0.33305	0.12099742	0.29198	0.14525783	0.33304	0.12099742	0.29197	-2.917	0.09314	T	.	.	0.113	0.25232	B	.;.;.;.	.;.;.;.	0.049582	0.04636	1.295	0.62327499123901942	0.06934	0.03294	0.08346	N	ALL	0.043723	0.06948	N	-1.896059186129	0.00350	0.01502336	-2.02039866737076	0.00277	0.01223511	0.999999999998905	0.74766	0.437478	0.07067	0	0.491552	0.07993	0	0.606814	0.37721	0	0.603991	0.37454	0	.	.	3.76	-7.52	0.01198	-0.920000	0.04121	-1.992000	0.04379	-1.034000	0.01683	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3161:0.3614:0.1164:0.2061	1.713	0.02722	862	0.33134	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	666.98	38	chr19	7501046	.	G	C	666.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.670e-01;DP=780;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.91;ReadPosRankSum=0.107;SOR=0.576	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1070	20	0	1	0
chr19	7529167	7529167	G	A	exonic	MCOLN1	.	nonsynonymous SNV	MCOLN1:NM_020533:exon10:c.G1201A:p.V401M,	Mucolipidosis IV, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.997	D	0.923	D	0.000	D	1.000	D	2.105	M	-0.61	T	-0.049	T	0.483	T	0.942	4.669	25.7	5.27	2.459	9.473	16.364	0.716	0.0577670537381	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1466895072	2.737e-06	2.736e-06	0	5.502e-06	3.478e-05	6.4e-07	4.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	8.993e-07	0	3.478e-05	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.043	0.49942	D	0.997	0.70673	D	0.923	0.65830	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.71	0.79292	M	-0.61	0.71779	T	-2.87	0.60348	D	0.954	0.96302	-0.0489	0.81230	T	0.483	0.80250	T	10	0.8850372	0.87828	D	0.057767	0.67081	D	0.716	0.89922	0.611	0.74418	0.892998195933	0.89194	0.8151512942307381	0.81471	2.30488031714	0.96506	0.812133073807	0.83819	D	0.685868	0.90821	D	0.383949	0.88962	D	0.31374	0.88822	D	0.984367072582245	0.75698	D	0.992842	0.97650	D	0.83985394	0.86598	0.6496184	0.79503	0.83985394	0.86599	0.6496184	0.79504	-12.125	0.85455	D	0.5498131458465736	0.61853	0.487	0.63988	A	.	.	5.591373	0.92382	32	0.99904940364020245	0.97576	0.99146	0.91905	D	AEFBI	0.948763	0.96072	D	0.784247957751809	0.85109	8.479573	0.782463073655026	0.88546	9.623752	0.999999999604555	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	9.599000	0.97470	9.839000	0.81912	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	16.364	0.83140	846	0.36215	Polycystin cation channel, PKD1/PKD2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3443.08	45	chr19	7529167	.	G	A	3443.08	.	AC=2;AF=0.048;AN=42;DP=908;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.11;SOR=1.374	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1575	20	1	0	0
chr19	7535870	7535870	G	A	exonic	PNPLA6	.	nonsynonymous SNV	PNPLA6:NM_001166114:exon1:c.G82A:p.A28T	Boucher-Neuhauser syndrome, Autosomal recessive;Oliver-McFarlane syndrome, Autosomal recessive;Spastic paraplegia 39, autosomal recessive, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.0	B	0.001	B	.	.	1.000	N	0.345	N	0.86	T	-1.035	T	0.065	T	0.114	2.557	14.51	0.559	0.103	0.248	4.946	0.032	0.0204916791445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.16e-06	2.052e-06	2.844e-06	1.458e-06	2.517e-05	5.8e-07	1.6e-07	4.18e-06	1.56e-06	0	0	0	0	0	0	0	1.722e-05	2.517e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.26085	T	0.075	0.43913	T	.	.	.	.	.	.	.	.	.	.	1	0.20203	N	.	.	.	0.86	0.46777	T	-0.53	0.16393	N	0.121	0.17553	-1.0349	0.18888	T	0.065	0.27017	T	9	0.07884523	0.12616	T	0.020492	0.43095	T	0.032	0.07718	0.221	0.14371	0.101711395817	0.09552	0.41751893992339395	0.41667	1.37107048066	0.84535	0.333818793297	0.15509	T	.	.	.	-0.284256	0.10222	T	-0.64609	0.09231	T	0.0489454668289677	0.05313	T	0.628437	0.24364	T	0.030156132	0.02631	0.039470695	0.04046	0.030156132	0.02630	0.039470695	0.04046	-4.213	0.26939	T	.	.	0.075	0.07412	B	.;.	.;.	1.333768	0.17395	13.14	0.98785490630540096	0.46206	0.04556	0.10196	N	ALL	0.099716	0.20066	N	-1.01227517600823	0.08349	0.3911234	-1.04076071292596	0.08900	0.4399536	0.999999999999955	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	4.14	0.559	0.16459	0.146000	0.16000	1.540000	0.27221	0.672000	0.70159	0.000000	0.06391	0.956000	0.29165	0.022000	0.11911	0.2073:0.1748:0.6178:0.0	4.946	0.13341	851	0.35303	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3641.08	34	chr19	7535870	.	G	A	3641.08	.	AC=2;AF=0.048;AN=42;DP=853;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.09;SOR=0.814	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1163	20	1	0	0
chr19	7535961	7535961	T	C	exonic	PNPLA6	.	nonsynonymous SNV	PNPLA6:NM_001166114:exon1:c.T173C:p.V58A	Boucher-Neuhauser syndrome, Autosomal recessive;Oliver-McFarlane syndrome, Autosomal recessive;Spastic paraplegia 39, autosomal recessive, Autosomal recessive	.	0	1494	27	1	0	29	0.0096122	.	.	265656	Mucolipidosis_type_IV|Hereditary_spastic_paraplegia|Hereditary_spastic_paraplegia_39|Spastic_Paraplegia,_Recessive|not_specified	MONDO:MONDO:0009653,MedGen:C0238286,OMIM:252650,Orphanet:578|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MONDO:MONDO:0012787,MedGen:C2677586,OMIM:612020,Orphanet:139480|MedGen:CN239433|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.002	B	0.004	B	0.024	N	0.866	D	0.625	N	3.45	T	-0.962	T	0.001	T	0.178	4.146	21.4	4.39	2.086	2.859	6.867	0.064	.	.	0.0223642	0.0214	0.0012	0.0184	0.0784	0.0273	0.0020	0.0227	0.0518	0.008234	1273	154602	rs188353745	0.0040	0.0040	0.0030	0.0050	0.0419	0.0039	0.0039	0.0402	0.0395	0.0005	0.0033	3.914e-05	0.0419	0.0051	0.0039	0.0002	0.0057	0.0374	0.0041	0.0041	0.0028	0.0054	0.0476	0.0038	0.0037	0.0428	0.0409	0.0012	0	0.0011	0.0003	0.0476	0.0064	0.0034	0.0005	0.0038	0.0412	0.041	0.41915	D	0.202	0.55341	T	0.0	0.02946	B	0.003	0.08700	B	0.024356	0.26277	N	0.390328	0.785493	0.35469	D	.	.	.	3.45	0.06063	T	-2.06	0.47175	N	0.206	0.26475	-0.9622	0.38761	T	0.001	0.00287	T	10	0.0031965077	0.00054	T	.	.	.	0.064	0.18567	.	.	.	.	0.543598089825318	0.54285	2.43727951051	0.97311	0.535668492317	0.43835	T	0.034526	0.23358	T	-0.578816	0.00196	T	-0.569897	0.15458	T	0.012530299453851	0.00208	T	0.761924	0.39806	T	0.09636353	0.22696	0.07147646	0.15310	0.064566344	0.13711	0.07147646	0.15310	-3.953	0.23098	T	.	.	0.118	0.49353	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.899290	0.56784	23.8	0.99667704520882183	0.78394	0.72809	0.35626	D	ALL	0.322394	0.42489	N	-0.234745762556508	0.31717	1.781257	-0.0599080147459453	0.37065	2.165195	0.999999999722668	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	5.47	4.39	0.52211	1.698000	0.37413	4.916000	0.45998	0.661000	0.55757	0.991000	0.37257	1.000000	0.68203	0.987000	0.62547	0.0:0.1373:0.0:0.8627	6.867	0.23285	851	0.35303	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1357.98	34	chr19	7535961	.	T	C	1357.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=847;ExcessHet=0.0000;FS=1.600;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=-3.023e+00;SOR=0.914	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1163	20	0	1	0
chr19	7561524	7561524	C	G	exonic	PNPLA6	.	nonsynonymous SNV	PNPLA6:NM_001166114:exon32:c.C4060G:p.L1354V	Boucher-Neuhauser syndrome, Autosomal recessive;Oliver-McFarlane syndrome, Autosomal recessive;Spastic paraplegia 39, autosomal recessive, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	998863	not_provided|Hereditary_spastic_paraplegia_39	MedGen:C3661900|MONDO:MONDO:0012787,MedGen:C2677586,OMIM:612020,Orphanet:139480	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.52	T	0.001	B	0.003	B	0.237	N	1.000	N	0	N	3.76	T	-0.934	T	0.007	T	0.116	1.102	9.496	-8.7	-1.322	-1.393	6.926	0.006	0.0297422353163	.	.	2.602e-05	0	0	0	0	2.327e-05	0	8.46e-05	1.29e-05	2	154602	rs150392453	1.03e-05	1.026e-05	6.826e-06	1.381e-05	0.0002	6.18e-06	4.9e-06	7.205e-05	5.541e-05	0	0	0	0	0	0.0002	1.801e-06	1.665e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.21550	T	0.755	0.07999	T	0.001	0.07471	B	0.003	0.08700	B	0.237134	0.03558	N	1.849590	1	0.08975	N	.	.	.	3.74	0.04079	T	-0.32	0.13035	N	0.029	0.01498	-0.9345	0.43470	T	0.007	0.02282	T	10	0.037819624	0.02160	T	0.029742	0.52190	D	0.006	0.00375	.	.	0.107399877778	0.10242	0.1085141679019055	0.10780	0.930252368807	0.71791	0.292412638664	0.09274	T	.	.	.	-0.479826	0.00741	T	-0.743622	0.03740	T	0.047925388469429	0.05130	T	0.666133	0.27528	T	0.02140683	0.00742	0.0319282	0.01852	0.02140683	0.00742	0.0319282	0.01852	-4.289	0.28023	T	.	.	0.060	0.01348	B	.;.;.;.;.	.;.;.;.;.	-0.145243	0.03381	0.606	0.72658796239404932	0.10050	0.00793	0.03241	N	AEFBHCI	0.057329	0.10669	N	-1.67709264869001	0.00926	0.04010714	-1.76273817707038	0.00886	0.03960722	0.649394827433012	0.22145	0.706548	0.73137	0	0.643519	0.57511	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.48	-8.7	0.00738	-1.657000	0.02081	-2.126000	0.04174	-0.217000	0.08171	0.000000	0.06391	0.000000	0.08366	0.478000	0.28520	0.2062:0.1641:0.5522:0.0775	6.926	0.23594	889	0.27310	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1513.98	36	chr19	7561524	.	C	G	1513.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.672e+00;DP=899;ExcessHet=0.0000;FS=0.759;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.15;ReadPosRankSum=1.28;SOR=0.604	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,102,1530	20	0	1	0
chr19	7612015	7612015	C	A	exonic	CAMSAP3	.	nonsynonymous SNV	CAMSAP3:NM_020902:exon11:c.C1522A:p.P508T	.	.	428	1088	6	0	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.642	P	0.199	B	0.855	N	0.577	D	1.795	L	2.41	T	-0.971	T	0.026	T	0.058	-0.073	3.643	-0.177	0.298	0.217	3.994	0.030	0.024049034247	0.0034	0.00159744	0.0033	0.0006	0.0012	0.0003	0.0059	0.0048	0.0023	0.0013	0.0033829	523	154602	rs140623215	0.0053	0.0053	0.0055	0.0051	0.0063	0.0052	0.0052	0.0061	0.0061	0.0008	0.0009	7.655e-05	0.0001	0.0079	0.0003	0.0063	0.0040	0.0012	0.0036	0.0036	0.0036	0.0036	0.0057	0.0033	0.0032	0.0052	0.0051	0.0011	0	0.0012	0	0.0004	0.0073	0	0.0057	0.0019	0.0017	0.006	0.61437	D	0.097	0.39799	T	0.15	0.40458	B	0.066	0.36804	B	0.854946	0.08936	N	0.932203	0.577374	0.32345	D	0.55	0.14455	N	2.4	0.15608	T	-2.45	0.53577	N	0.118	0.11912	-0.9714	0.36904	T	0.026	0.11087	T	10	0.0059903264	0.00134	T	0.024049	0.47032	T	0.030	0.07022	.	.	0.102598925029	0.09809	0.5831598068232337	0.58244	0.873908091488	0.69495	0.430395305157	0.29263	T	0.019572	0.15567	T	-0.666525	0.00058	T	-0.727165	0.04458	T	0.0075979437545227	0.00088	T	0.667933	0.27701	T	0.12443356	0.29195	0.07690787	0.17082	0.12443356	0.29195	0.07690787	0.17081	-5.066	0.38096	T	.	.	0.069	0.04002	B	.;.	.;.	1.895981	0.24081	16.26	0.97578833977780932	0.34725	0.03609	0.08840	N	AEFBCI	0.082297	0.16663	N	-0.706617268390037	0.15835	0.8015859	-0.865241595842885	0.12922	0.6674905	1.23465344872047E-4	0.05386	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	2.56	-0.177	0.12654	-0.303000	0.08249	0.301000	0.16978	0.573000	0.29008	0.000000	0.06391	0.160000	0.23254	0.392000	0.26603	0.2716:0.4608:0.2675:0.0	3.994	0.09038	851	0.35303	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1651.98	34	chr19	7612015	.	C	A	1651.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.790;DP=857;ExcessHet=0.0000;FS=3.702;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.26;ReadPosRankSum=1.67;SOR=0.845	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1069	20	0	1	0
chr19	7622621	7622621	T	A	exonic	XAB2	.	nonsynonymous SNV	XAB2:NM_020196:exon11:c.A1412T:p.D471V,	.	.	417	1103	2	0	0	2	0.000905797	.	.	2352180	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.609	P	0.168	B	0.000	D	1.000	D	2.765	M	2.03	T	-0.994	T	0.071	T	0.837	2.694	14.97	4.2	1.769	3.859	12.403	0.248	0.0913439866279	.	.	4.184e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs771900837	2.397e-05	2.394e-05	1.499e-05	3.304e-05	0.0004	1.741e-05	1.541e-05	0.0003	0.0003	0	0	0	0	0	0	0	0	0.0004	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.78490	D	0.007	0.69154	D	0.609	0.39586	P	0.168	0.35187	B	0.000000	0.84330	D	0.000000	1	0.81001	D	3.215	0.89331	M	2.03	0.20959	T	-6.81	0.92942	D	0.584	0.60495	-0.9937	0.31643	T	0.071	0.28773	T	10	0.5213645	0.62661	D	0.091344	0.75690	D	0.248	0.55615	0.483	0.56462	0.40959786005	0.40575	0.8387059325864347	0.83830	0.926301182965	0.71654	0.750211596489	0.74477	T	0.604649	0.87380	D	-0.0754137	0.40458	T	-0.029947	0.68372	D	0.518277049064636	0.33302	D	0.951205	0.81406	D	0.77058357	0.82083	0.44387317	0.67588	0.77058357	0.82085	0.44387317	0.67589	-4.525	0.31214	T	.	.	0.8	0.77283	P	.	.	3.703236	0.52832	23.3	0.9879064610672913	0.46285	0.93346	0.57971	D	AEFBCI	0.590326	0.58686	D	0.0769890272886148	0.45392	2.796432	0.0236872618135908	0.40816	2.442062	0.99999999574274	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.2	4.2	0.48814	2.103000	0.41430	4.906000	0.45906	0.665000	0.62972	0.988000	0.36536	1.000000	0.68203	0.193000	0.21690	0.0:0.0:0.0:1.0	12.403	0.54758	851	0.35303	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2353.98	35	chr19	7622621	.	T	A	2353.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.04;DP=967;ExcessHet=0.0000;FS=3.711;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.99;ReadPosRankSum=0.257;SOR=0.782	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1239	20	0	1	0
chr19	7630619	7630619	A	G	exonic	PET100	.	nonsynonymous SNV	PET100:NM_001171155:exon2:c.A74G:p.N25S,	Mitochondrial complex IV deficiency, Autosomal recessive, Mitochondrial	.	428	1089	5	0	0	5	0.00229043	.	.	1208892	Mitochondrial_complex_4_deficiency,_nuclear_type_12|not_provided	MONDO:MONDO:0033646,MedGen:C5436695,OMIM:619055|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.996	D	0.99	D	.	.	0.985	D	.	.	.	.	-0.173	T	0.345	T	0.282	4.530	24.4	5.29	1.984	6.183	12.745	0.328	0.136500655648	0.0018	0.00139776	0.0013	0	0.0065	0	0	0.0012	0	0.0018	0.000401	62	154602	rs184325854	0.0022	0.0021	0.0022	0.0022	0.0035	0.0021	0.0021	0.0030	0.0028	0.0002	0.0035	0	0	0.0002	0	0.0024	0.0026	0.0017	0.0015	0.0015	0.0016	0.0013	0.0025	0.0013	0.0013	0.0019	0.0018	0.0005	0	0.0025	0	0.0002	0.0004	0	0.0022	0.0033	0.0012	.	.	.	0.014	0.62352	D	0.996	0.68779	D	0.99	0.78936	D	.	.	.	.	0.985283	0.40262	D	.	.	.	.	.	.	.	.	.	0.562	0.68342	-0.1734	0.78345	T	0.345	0.71004	T	7	0.012122005	0.00262	T	0.136501	0.81898	D	.	.	.	.	0.154104182512	0.14974	0.9764139223726237	0.97631	.	.	0.483816355467	0.36582	T	0.331509	0.70158	T	-0.386201	0.02845	T	-0.330578	0.41405	T	0.0728936245578348	0.09051	T	0.816518	0.48765	T	0.82974094	0.85884	0.84648657	0.91269	0.82974094	0.85886	0.84648657	0.91270	-6.154	0.47550	T	0.5080299488642671	0.58218	0.219	0.49836	B	.;.	.;.	5.662598	0.92885	33	0.99871757918911552	0.94902	0.86717	0.46058	D	AEFGBCI	0.885638	0.81634	D	0.646195911734215	0.76124	6.428718	0.64037449492989	0.77897	6.768403	0.999999997388612	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.29	5.29	0.74430	5.562000	0.67049	10.980000	0.84596	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	12.745	0.56652	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	6916.08	33	chr19	7630619	.	A	G	6916.08	.	AC=2;AF=0.048;AN=42;DP=967;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.87;SOR=0.904	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1246	20	1	0	0
chr19	7632831	7632831	C	A	splicing	PCP2	NM_001271830:exon2:c.4-1G>T;NM_174895:exon2:c.52-1G>T	.	.	.	.	0	225	1	0	0	1	0.00221729	0.9999	0.03	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.822	12.05	4.9	2.549	4.578	15.108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.162e-07	3.42e-06	1.415e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16813	0.70950	D	0.00372996	0.70577	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	6.112238	0.94589	34	0.99433743634908378	0.64423	0.92829	0.56647	D	AEFBCI	.	.	.	0.924811942957555	0.92921	11.71017	0.724524417216616	0.84239	8.237509	0.999999966337656	0.74766	0.092769	0.02424	0	0.130567	0.03505	0	0.059349	0.00372	0	0.089874	0.02613	0	0.982708	0.89109	4.9	4.9	0.63643	2.459000	0.44680	5.742000	0.49579	0.599000	0.40250	0.970000	0.34288	1.000000	0.68203	0.283000	0.24091	0.0:1.0:0.0:0.0	15.108	0.72007	867	0.32089	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1835.98	34	chr19	7632831	.	C	A	1835.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.170e+00;DP=853;ExcessHet=0.0000;FS=3.757;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=1.14;SOR=0.435	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1147	20	0	1	0
chr19	7642816	7642816	C	T	exonic	STXBP2	.	nonsynonymous SNV	STXBP2:NM_001127396:exon11:c.C944T:p.T315M	Hemophagocytic lymphohistiocytosis, familial, 5	.	2	1516	4	0	0	4	0.00131752	.	.	742213	Familial_hemophagocytic_lymphohistiocytosis_5|Autoinflammatory_syndrome|not_provided	MONDO:MONDO:0013135,MedGen:C2751293,OMIM:613101,Orphanet:540|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.99	D	0.000	D	1.000	D	2.415	M	-1.05	T	0.155	D	0.528	D	0.58	3.372	17.37	4.54	2.097	3.065	14.818	0.350	0.0706060410447	.	0.00119808	0.0004	0	0	0.0050	0	1.516e-05	0	0.0001	0.0003687	57	154602	rs201293382	0.0001	0.0001	0.0001	0.0001	0.0031	0.0001	0.0001	0.0027	0.0025	0	0	0	0.0031	0	0.0002	1.799e-05	0.0005	0.0001	0.0002	0.0002	0.0002	0.0002	0.0050	0.0001	0.0001	0.0035	0.0030	2.407e-05	0	0	0	0.0050	0	0	1.47e-05	0.0009	0	0.075	0.35537	T	0.065	0.44905	T	1.0	0.90584	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.35	0.67516	M	-1.05	0.76690	T	-2.4	0.52776	N	0.688	0.70263	0.155	0.85142	D	0.528	0.82472	D	10	0.01176703	0.00256	T	0.070606	0.71046	D	0.350	0.67142	.	.	0.849127935969	0.84768	0.4335165578649366	0.43268	0.863688015342	0.69086	0.613290250301	0.54781	T	0.486375	0.81289	T	-0.241922	0.15105	T	-0.119328	0.61858	T	0.0840229331498682	0.10493	T	0.953805	0.82399	D	0.34793168	0.56905	0.3478157	0.60430	0.34793168	0.56905	0.3478157	0.60430	-5.213	0.41016	T	0.44900397897338507	0.53315	0.162	0.44784	B	.;.;.	.;.;.	5.073955	0.84639	28.4	0.99899088623744592	0.97124	0.88945	0.49125	D	AEFBCI	0.707809	0.66242	D	0.443623880439635	0.63842	4.625938	0.365540756076854	0.59450	4.122866	0.999999966562862	0.74766	0.706298	0.61202	0	0.697927	0.68747	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.54	4.54	0.55220	6.036000	0.70590	7.397000	0.58550	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:1.0:0.0:0.0	14.818	0.69676	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	851.98	35	chr19	7642816	.	C	T	851.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=791;ExcessHet=0.0000;FS=0.868;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=0.452;SOR=0.566	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1456	20	0	1	0
chr19	7697071	7697071	C	G	exonic	FCER2	.	nonsynonymous SNV	FCER2:NM_001207019:exon6:c.G318C:p.L106F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.908	P	0.476	P	0.751	N	1.000	N	0	N	2.31	T	-1.026	T	0.018	T	0.052	1.274	10.16	-8.34	-2.532	-2.910	0.654	0.016	0.00202789015299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.68238	D	0.036	0.53072	D	0.0	0.02946	B	0.001	0.04355	B	0.750668	0.06482	N	1.179010	1	0.08975	N	0	0.06538	N	2.31	0.16794	T	-0.57	0.17417	N	0.119	0.10911	-1.0255	0.21919	T	0.018	0.07518	T	10	0.042461902	0.02998	T	0.002028	0.03695	T	0.016	0.02506	0.248	0.18447	0.110078149338	0.10416	0.058218494152254156	0.05762	0.076144099843	0.08550	0.359895050526	0.19371	T	0.027365	0.20056	T	-0.388486	0.02751	T	-0.795809	0.02010	T	0.13327369077046	0.15681	T	0.444056	0.12368	T	0.069091685	0.15109	0.07100403	0.15153	0.069091685	0.15109	0.07100403	0.15152	-6.108	0.47174	T	.	.	0.098	0.16054	B	.;.;.	.;.;.	-1.134092	0.00601	0.015	0.78867182581039974	0.12487	0.01462	0.04886	N	AEFDBCI	0.033509	0.03993	N	-1.76246345701425	0.00644	0.02776372	-1.90411464150819	0.00481	0.0212881	0.999999995991089	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.550215	0.18615	0	0.542086	0.14980	0	.	.	4.98	-8.34	0.00866	-2.079000	0.01457	-8.944000	0.00890	-1.507000	0.01020	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.26:0.2298:0.2919:0.2183	0.654	0.00778	798	0.45050	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	970.98	34	chr19	7697071	.	C	G	970.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.342e+00;DP=908;ExcessHet=0.0000;FS=0.902;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.49;ReadPosRankSum=1.16;SOR=0.569	GT:AD:DP:GQ:PL	0/1:35,37:72:99:985,0,1074	20	0	1	0
chr19	7699376	7699376	C	T	splicing	FCER2	NM_001207019:exon1:c.19+1G>A	.	.	.	.	421	1098	3	0	0	3	0.00136426	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	0.655	7.513	-0.034	-0.006	-0.087	5.573	.	.	.	.	0.0001	0	0	0	0	0.0004	0	0	3.23e-05	5	154602	rs566821189	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	0.0001	0.0004	0.0003	0	0.0001	0	0	0	0.0010	0.0002	0.0003	1.303e-05	0.0001	0.0001	0.0001	0.0001	0.0002	6.514e-05	5.325e-05	9.05e-05	7.013e-05	4.818e-05	0	6.556e-05	0.0003	0	0	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.443209	0.01238	T	-0.579581	0.14582	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.036602	0.25887	16.92	0.66386386337672854	0.08044	0.23607	0.22131	N	AEFDGBHCI	.	.	.	-0.463662871468702	0.23279	1.248966	-0.600937768417851	0.19469	1.044685	0.999999708252938	0.74766	0.08998	0.02334	0	0.098	0.03038	0	0.076284	0.02335	0	0.079188	0.02158	0	0.106984	0.23181	3.84	-0.0337	0.13227	0.012000	0.13184	4.166000	0.42242	0.587000	0.30956	0.945000	0.32849	0.970000	0.29701	0.059000	0.15899	0.0:0.446:0.4224:0.1316	5.573	0.16488	808	0.43318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1137.98	40	chr19	7699376	.	C	T	1137.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=886;ExcessHet=0.0000;FS=3.681;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=-6.250e-01;SOR=0.645	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1800	20	0	1	0
chr19	7730841	7730841	T	A	exonic	CLEC4G	.	nonsynonymous SNV	CLEC4G:NM_001244856:exon5:c.A266T:p.Q89L	.	.	636	861	20	5	0	30	0.0171233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.001	B	0.001	B	0.063	N	1.000	N	0.625	N	5.39	T	-0.902	T	0.003	T	0.252	1.034	9.225	1.92	0.674	0.026	2.824	0.021	.	.	0.0101837	0.0229	0.0053	0	0	0	0.0082	0.0082	0.0303	0.0031953	494	154602	rs36064197	0.0097	0.0093	0.0089	0.0105	0.0289	0.0096	0.0095	0.0279	0.0275	0.0016	0.0032	0.0032	0	0.0140	0.0148	0.0091	0.0084	0.0289	0.0077	0.0077	0.0073	0.0081	0.0292	0.0073	0.0071	0.0253	0.0238	0.0019	0	0.0033	0.0026	0	0.0172	0.0274	0.0100	0.0061	0.0292	0.163	0.23450	T	0.318	0.19246	T	0.001	0.07471	B	0.001	0.04355	B	0.062862	0.22066	N	0.233416	1	0.08975	N	1.355	0.33814	L	5.39	0.01025	T	-2.44	0.53420	N	0.13	0.12484	-0.9024	0.47739	T	0.003	0.00929	T	10	0.003191352	0.00054	T	.	.	.	0.021	0.04004	.	.	.	.	0.281461959459011	0.28059	0.475177538353	0.46692	0.34300673008	0.16888	T	0.034478	0.23338	T	-0.613224	0.00121	T	-0.631318	0.10315	T	0.000717836883073348	0.00006	T	0.447355	0.12562	T	0.084376894	0.19527	0.077011086	0.17113	0.084376894	0.19527	0.077011086	0.17112	-4.601	0.32184	T	.	.	0.071	0.18828	B	.;.	.;.	1.426226	0.18436	13.74	0.73743340794885404	0.10439	0.01741	0.05494	N	AEFDBHI	0.067515	0.13275	N	-0.925637646405639	0.10245	0.4886584	-0.948569541555381	0.10956	0.5552066	0.992607985525564	0.32901	0.59774	0.34471	0	0.563428	0.19063	0	0.666236	0.60216	0	0.63947	0.58350	0	.	.	4.03	1.92	0.24912	0.209000	0.17231	1.305000	0.25500	0.640000	0.52149	0.012000	0.18695	0.684000	0.26137	0.028000	0.12845	0.2408:0.1198:0.0:0.6394	2.824	0.05143	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	521.11	23	chr19	7730841	.	T	A	521.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.95;DP=574;ExcessHet=0.1072;FS=1.105;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.78;MQRankSum=0.00;QD=9.47;ReadPosRankSum=1.99;SOR=1.022	GT:AD:DP:GQ:PL	0/0:23,0:23:63:0,63,725	19	0	2	0
chr19	7869373	7869378	GCCCCG	-	exonic	PRR36	.	nonframeshift deletion	PRR36:NM_001190467:exon6:c.3696_3701del:p.G1233_A1234del,	.	.	210	1311	1	0	0	1	0.000381243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs917211595	7.4e-05	7.867e-05	8.28e-05	6.492e-05	0.0011	6.181e-05	5.74e-05	0.0004	0.0003	3.961e-05	0.0007	0	3.505e-05	3.161e-05	0.0011	6.167e-05	0.0002	1.529e-05	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	0.0001	0.0006	0.0005	7.215e-05	0	0.0010	0	0	0	0	0.0001	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	931.94	36	chr19	7869372	.	CGCCCCG	C	931.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.825;DP=713;ExcessHet=0.0000;FS=3.077;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=24.52;ReadPosRankSum=-1.408e+00;SOR=1.519	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1084	20	0	1	0
chr19	7870294	7870294	C	T	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.G2950A:p.A984T,	.	.	340	1178	4	0	0	4	0.00169492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.313	B	0.046	B	.	.	1.000	N	2.045	M	.	.	-1.039	T	0.061	T	0.176	0.072	4.390	0.722	0.256	-0.198	5.553	0.031	.	.	0.00319489	0.0133	0	0	0	0	0.02	.	0	0.0004722	73	154602	rs138896713	0.0082	0.0071	0.0082	0.0082	0.0093	0.0081	0.0080	0.0092	0.0091	0.0010	0.0048	0.0074	0	0.0008	0.0007	0.0093	0.0069	0	0.0043	0.0053	0.0048	0.0039	0.0066	0.0040	0.0039	0.0060	0.0058	0.0014	0	0.0042	0.0060	0	0.0002	0.0063	0.0066	0.0053	0	.	.	.	0.341	0.17964	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.049	0.02088	-1.0388	0.17678	T	0.061	0.25310	T	8	0.003385067	0.00059	T	.	.	.	.	.	.	.	0.0138822411134	0.00435	0.1120410950803723	0.11133	.	.	0.549222052097	0.45748	T	0.020862	0.16347	T	-0.524545	0.00414	T	-0.515861	0.20715	T	0.0226574434323909	0.00983	T	0.349965	0.07784	T	0.06791743	0.14750	0.06589508	0.13421	0.06791743	0.14750	0.06589508	0.13420	-6.932	0.53536	T	.	.	0.143	0.31583	B	.	.	0.500233	0.08693	5.466	0.37704475013879407	0.02500	0.01741	0.05494	N	ALL	0.030969	0.03219	N	-0.907647495592968	0.10662	0.5105892	-1.038936131596	0.08939	0.4420422	0.999896565493851	0.45129	0.839682	0.99964	0	0.607795	0.50457	0	0.736553	0.94036	0	0.562822	0.20929	0	.	.	3.03	0.722	0.17379	-0.575000	0.05953	-2.220000	0.04039	-0.705000	0.03985	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6997:0.0:0.3003	5.553	0.16388	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.05	1786.8	39	chr19	7870294	.	C	T	1786.8	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-9.080e-01;DP=992;ExcessHet=0.1072;FS=2.801;InbreedingCoeff=-0.0633;MLEAC=2;MLEAF=0.050;MQ=60.00;MQRankSum=0.00;QD=11.38;ReadPosRankSum=0.160;SOR=0.694	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1401	18	0	2	1
chr19	7871678	7871678	G	C	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.C1566G:p.D522E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	.	.	.	.	.	.	0.996	N	0	N	.	.	-0.998	T	0.035	T	0.085	0.963	8.927	0.534	0.295	1.986	5.982	0.014	0.00631720991641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0061	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0	8.002e-05	2.812e-05	0	0.0004	0.0003	0.0003	6.372e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.27943	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.125	0.11769	-0.9982	0.30423	T	0.035	0.15291	T	6	0.06605524	0.09003	T	0.006317	0.16610	T	.	.	.	.	0.0401082797425	0.02173	0.04024571050867364	0.03970	.	.	0.37946036458	0.22180	T	0.013956	0.11972	T	-0.255113	0.13478	T	-0.604228	0.12458	T	0.0270435322631717	0.01550	T	0.30037	0.05618	T	0.023964053	0.01182	0.025669742	0.00620	0.023964053	0.01182	0.025669742	0.00619	-5.088	0.37780	T	.	.	0.367	0.57658	A	.	.	1.113604	0.14988	11.50	0.53643305433940836	0.04980	0.10200	0.15772	N	ALL	.	.	.	-0.794969245513708	0.13441	0.6621338	-0.886495899590302	0.12413	0.638379	0.999999999661444	0.74766	0.730579	0.87903	0	0.607795	0.50457	0	0.749866	0.98131	0	0.603991	0.37454	0	.	.	4.05	0.534	0.16320	0.450000	0.21475	0.712000	0.20944	0.606000	0.46413	0.025000	0.20085	0.000000	0.08366	0.014000	0.10232	0.353:0.0:0.647:0.0	5.982	0.18645	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.25	769.34	89	chr19	7871678	.	G	C	769.34	.	AC=10;AF=0.250;AN=40;BaseQRankSum=-3.686e+00;DP=1708;ExcessHet=6.1002;FS=184.238;InbreedingCoeff=-0.3275;MLEAC=10;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=0.97;ReadPosRankSum=0.814;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:81,0:81:58:.:.:0,58,1893	10	0	10	1
chr19	7871679	7871679	T	C	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.A1565G:p.D522G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	.	.	.	.	.	.	1.000	D	0	N	.	.	-1.102	T	0.070	T	0.132	1.195	9.854	1.35	0.508	-0.021	8.062	0.017	0.0117926730478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.923e-05	0.0022	3.806e-05	4.042e-05	6.459e-05	3.06e-05	2.775e-05	3.664e-05	3.306e-05	6.459e-05	0	0	0	0	0	4.763e-05	1.762e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.21411	T	.	.	.	.	.	.	.	.	.	.	0.999236	0.21473	N	.	.	.	.	.	.	.	.	.	0.157	0.16308	-1.1021	0.03846	T	0.070	0.28511	T	6	0.064407915	0.08537	T	0.011793	0.29763	T	.	.	.	.	0.0297737177859	0.01360	0.13029884274010206	0.12954	.	.	0.371050000191	0.20983	T	0.014	0.12071	T	-0.203166	0.20349	T	-0.529611	0.19324	T	0.0422498770598029	0.04101	T	0.416558	0.10945	T	0.0437944	0.06888	0.05439061	0.09347	0.0437944	0.06888	0.05439061	0.09347	-2.886	0.09004	T	.	.	0.301	0.53087	B	.	.	2.067708	0.26296	17.07	0.72018066111299484	0.09827	0.06998	0.13024	N	ALL	.	.	.	-0.848398345689186	0.12089	0.5871903	-0.929969797100409	0.11389	0.5799016	0.999999999887838	0.74766	0.730579	0.87903	0	0.607795	0.50457	0	0.749866	0.98131	0	0.603991	0.37454	0	.	.	4.05	1.35	0.21078	0.356000	0.19918	-0.015000	0.13005	0.597000	0.34315	0.062000	0.21832	0.000000	0.08366	0.012000	0.09680	0.0:0.0:0.5332:0.4668	8.062	0.29799	917	0.20147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	53.12	42	chr19	7871679	.	T	C	53.12	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.234e+00;DP=1130;ExcessHet=0.1072;FS=108.449;InbreedingCoeff=-0.0505;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.41;ReadPosRankSum=0.137;SOR=7.167	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,99,1485	19	0	2	0
chr19	7872929	7872929	A	T	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon4:c.T407A:p.I136N,	.	.	424	1094	4	0	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	.	.	.	.	.	.	1.000	N	0	N	.	.	-1.020	T	0.031	T	0.102	-0.445	1.934	-0.959	-0.030	0.779	5.347	0.014	.	.	0.00279553	0.0024	0.0072	0	0	0	0.0070	0	0	0.0012354	191	154602	rs147331962	0.0074	0.0071	0.0075	0.0074	0.0088	0.0073	0.0073	0.0087	0.0086	0.0009	0.0039	0.0077	0	0.0009	0.0007	0.0088	0.0063	3.786e-05	0.0046	0.0046	0.0052	0.0041	0.0075	0.0043	0.0042	0.0070	0.0068	0.0016	0	0.0048	0.0081	0	0.0003	0.0136	0.0075	0.0090	0	.	.	.	0.242	0.24264	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.364	0.40565	-1.0195	0.23877	T	0.031	0.13418	T	6	0.005706668	0.00127	T	.	.	.	.	.	.	.	0.252681307341	0.24864	0.036222337537804586	0.03569	.	.	0.429368138313	0.29121	T	0.008611	0.07893	T	-0.581699	0.00188	T	-0.602373	0.12613	T	0.00177726721740528	0.00018	T	0.485551	0.14815	T	0.065106794	0.13880	0.09458222	0.22395	0.065106794	0.13880	0.09458222	0.22394	-2.89	0.09044	T	.	.	0.360	0.57199	A	.	.	1.697124	0.21620	15.28	0.53742489929016324	0.04999	0.03726	0.09019	N	AEFDBCI	0.074310	0.14891	N	-0.974746795697728	0.09145	0.4316298	-1.09056517935586	0.07885	0.3853692	0.99932338971388	0.39149	0.766844	0.99359	0	0.563428	0.19063	0	0.851219	0.99655	0	0.530356	0.10902	0	.	.	2.8	-0.959	0.09816	0.738000	0.25826	2.043000	0.30309	-0.267000	0.06790	0.001000	0.13787	0.067000	0.22148	0.072000	0.16771	0.4252:0.0:0.5748:0.0	5.347	0.15320	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1892.11	45	chr19	7872929	.	A	T	1892.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.100e-02;DP=854;ExcessHet=0.1072;FS=3.151;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=-1.173e+00;SOR=0.450	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,111,1212	19	0	2	0
chr19	7872938	7872938	C	G	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon4:c.G398C:p.G133A,	.	.	423	1091	8	0	0	8	0.00365297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	.	.	.	.	.	.	1.000	D	0.345	N	.	.	-1.063	T	0.100	T	0.177	0.852	8.448	3.46	1.898	1.827	11.170	0.024	0.027332681776	.	.	0.0003	0	0	0	0	0.0008	0	0.0001	3.88e-05	6	154602	rs757768325	0.0002	0.0002	0.0002	0.0002	0.0135	0.0002	0.0002	0.0111	0.0102	3.165e-05	0.0003	0	0	0	0.0135	9.454e-05	0.0006	0.0003	0.0001	0.0001	0.0001	0.0001	0.0003	8.16e-05	6.718e-05	8.868e-05	5.28e-05	2.404e-05	0	0.0003	0	0	0	0.0068	0.0001	0.0014	0	.	.	.	0.519	0.10501	T	.	.	.	.	.	.	.	.	.	.	0.998855	0.21853	N	.	.	.	.	.	.	.	.	.	0.444	0.48227	-1.0626	0.11118	T	0.100	0.37085	T	6	0.069595695	0.10007	T	0.027333	0.50151	D	.	.	.	.	0.0551355673512	0.04727	0.06503835109158722	0.06442	.	.	0.470769077539	0.34786	T	0.017822	0.14473	T	-0.365732	0.03816	T	-0.455708	0.27068	T	0.0402286164462566	0.03733	T	0.584642	0.21276	T	0.07944488	0.18149	0.14051548	0.33492	0.07944488	0.18149	0.14051548	0.33491	-3.489	0.16278	T	.	.	0.231	0.46354	B	.	.	2.751759	0.36070	20.2	0.92885372745075923	0.22436	0.60495	0.31212	D	AEFDBCI	0.147436	0.27111	N	-0.263296186958501	0.30575	1.706188	-0.231215992149011	0.30424	1.712893	0.999995095554265	0.74766	0.766844	0.99359	0	0.563428	0.19063	0	0.851219	0.99655	0	0.530356	0.10902	0	.	.	3.46	3.46	0.38718	2.156000	0.41936	3.459000	0.38500	0.549000	0.26987	0.042000	0.21073	0.998000	0.33993	0.188000	0.21541	0.0:1.0:0.0:0.0	11.170	0.47791	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	860.98	45	chr19	7872938	.	C	G	860.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.15;DP=828;ExcessHet=0.0000;FS=1.913;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=0.238;SOR=0.930	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,111,1212	20	0	1	0
chr19	7899974	7899974	C	A	exonic	LRRC8E	.	nonsynonymous SNV	LRRC8E:NM_001268285:exon2:c.C1065A:p.D355E	.	.	425	1074	22	1	0	24	0.0110497	.	.	705347	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.004	B	0.012	B	0.000	D	0.994	D	-0.725	N	2.54	T	-1.034	T	0.044	T	0.114	0.591	7.186	2.47	0.560	0.968	9.349	0.077	.	0.0062	0.00459265	0.0071	0.0013	0.0061	0	0.0004	0.0068	0.0147	0.0180	0.0065588	1014	154602	rs139734410	0.0072	0.0072	0.0069	0.0075	0.0180	0.0071	0.0071	0.0172	0.0169	0.0013	0.0063	0.0028	0	0.0008	0.0139	0.0072	0.0079	0.0180	0.0051	0.0051	0.0053	0.0050	0.0159	0.0048	0.0047	0.0131	0.0120	0.0014	0	0.0082	0.0032	0.0002	0.0006	0.0102	0.0071	0.0061	0.0159	1.0	0.00964	T	1.0	0.01155	T	0.004	0.12183	B	0.012	0.16012	B	0.000009	0.62929	D	0.108394	0.99396	0.42113	D	-0.235	0.03917	N	2.54	0.13916	T	0.73	0.02068	N	0.05	0.02462	-1.0340	0.19173	T	0.044	0.18906	T	10	0.0054863393	0.00121	T	.	.	.	0.077	0.22490	0.249	0.18602	0.813227198809	0.81147	0.3707776527949292	0.36991	0.524025361125	0.50104	0.534387230873	0.43652	T	6.92E-4	0.00312	T	-0.643043	0.00080	T	-0.682183	0.06851	T	0.00601580858012532	0.00066	T	0.469153	0.13854	T	0.05779374	0.11547	0.05127226	0.08218	0.05779374	0.11546	0.05127226	0.08217	-3.557	0.17239	T	.	.	0.141	0.32104	B	.;.	.;.	1.645428	0.20997	15.00	0.89837237562902206	0.19145	0.79514	0.39416	D	AEFBCI	0.598665	0.59197	D	-0.181760965099369	0.33894	1.928249	-0.0812631321917535	0.36164	2.101208	0.999151374346199	0.38592	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.64	2.47	0.29113	0.785000	0.26491	1.400000	0.26189	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.8333:0.0:0.1667	9.349	0.37291	878	0.29785	.;.	SNAPC2	Heart_Atrial_Appendage	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	624.98	39	chr19	7899974	.	C	A	624.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.530;DP=884;ExcessHet=0.0000;FS=5.121;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.47;ReadPosRankSum=0.607;SOR=1.380	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1420	20	0	1	0
chr19	7910783	7910872	CTGGGCAAGATGACAGTGGCGGTGAGTGACCAGGCGGGGCTTGCACTGGGCAGGATGACAGAGGCGGTGAGTGACCAGGCGGGGCGTGCA	-	exonic	MAP2K7	.	nonframeshift deletion	MAP2K7:NM_001297556:exon6:c.655_675del:p.L219_A225del	.	.	426	1075	20	1	0	22	0.0101289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0001	0.0001	0	0	0.0004	0.0029	0.0058	0.0001921	5	26028	.	0.0067	0.0067	0.0064	0.0070	0.0173	0.0066	0.0065	0.0166	0.0163	0.0012	0.0059	0.0026	0	0.0007	0.0121	0.0066	0.0075	0.0173	0.0046	0.0046	0.0048	0.0045	0.0148	0.0043	0.0042	0.0121	0.0110	0.0012	0	0.0079	0.0032	0.0002	0.0006	0.0068	0.0063	0.0052	0.0148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1719.94	33	chr19	7910782	.	TCTGGGCAAGATGACAGTGGCGGTGAGTGACCAGGCGGGGCTTGCACTGGGCAGGATGACAGAGGCGGTGAGTGACCAGGCGGGGCGTGCA	T	1719.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=1006;ExcessHet=0.0000;FS=0.619;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.65;MQRankSum=-1.350e+00;QD=12.29;ReadPosRankSum=-4.543e+00;SOR=0.635	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1339	20	0	1	0
chr19	7916913	7916913	-	CGC	exonic	TGFBR3L	.	nonframeshift insertion	TGFBR3L:NM_001195259:exon2:c.568_569insCGC:p.P197_S198insP,	.	.	368	1150	1	1	2	5	0.00130265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs532844274	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0004	0.0004	0.0007	0.0003	0	0.0003	0.0001	0.0006	0.0002	0.0003	0.0002	0.0005	0.0005	0.0005	0.0004	0.0014	0.0004	0.0004	0.0010	0.0008	0.0006	0	0.0014	0	0	0	0	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	68.07	22	chr19	7916913	.	A	ACGC	68.07	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.842;DP=397;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0253;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=-5.990e-01;SOR=0.551	GT:AD:DP:GQ:PL	0/0:16,0:16:42:0,42,630	20	0	1	0
chr19	7922324	7922324	G	A	exonic	SNAPC2	.	nonsynonymous SNV	SNAPC2:NM_003083:exon4:c.G662A:p.R221H,	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.0	B	0.0	B	0.168	N	1.000	N	-1.79	N	0.9	T	-1.062	T	0.031	T	0.143	-0.201	3.024	0.968	0.023	0.535	4.158	0.071	0.0033880742617	0.0003	.	8.333e-05	0	0	0	0	0.0001	0	6.32e-05	6.47e-05	10	154602	rs146930849	7.802e-05	7.867e-05	8.171e-05	7.429e-05	0.0005	6.602e-05	6.145e-05	0.0001	7.546e-05	2.987e-05	4.474e-05	0	2.519e-05	0	0.0005	8.455e-05	0.0001	6.958e-05	6.571e-05	6.567e-05	0.0001	2.69e-05	8.82e-05	3.517e-05	2.616e-05	3.762e-05	2.575e-05	7.242e-05	0	6.541e-05	0	0	0	0	8.82e-05	0	0	0.32	0.13566	T	0.347	0.17640	T	0.0	0.02946	B	0.0	0.01387	B	0.168090	0.03089	N	1.593120	1	0.08975	N	-1.65	0.00388	N	0.9	0.45248	T	2.52	0.00229	N	0.153	0.15749	-1.0615	0.11385	T	0.031	0.13242	T	10	0.025061458	0.00712	T	0.003388	0.07603	T	0.071	0.20720	.	.	0.143124449307	0.13826	0.13007525622455576	0.12932	0.0694686119329	0.07775	0.244270712137	0.03188	T	9.22E-4	0.00478	T	-0.450598	0.01120	T	-0.659327	0.08312	T	0.0162468591026293	0.00397	T	0.435856	0.11948	T	0.010579763	0.00008	0.015265773	0.00006	0.010579763	0.00008	0.015265773	0.00006	-4.161	0.26185	T	.	.	0.065	0.01986	B	.	.	0.326612	0.07010	3.566	0.66735574084619786	0.08146	0.00456	0.02204	N	AEFBCI	0.046263	0.07661	N	-1.43676039396629	0.02322	0.1024351	-1.35180659775772	0.03785	0.1772533	0.999621327773551	0.41093	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.55	0.968	0.18799	-0.100000	0.10959	-0.143000	0.11497	-0.794000	0.03222	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.5206:0.2481:0.2313:0.0	4.158	0.09733	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2641.98	34	chr19	7922324	.	G	A	2641.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.99;DP=914;ExcessHet=0.0000;FS=1.054;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=-9.330e-01;SOR=0.646	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1212	20	0	1	0
chr19	7927256	7927256	G	T	exonic	TIMM44	.	nonsynonymous SNV	TIMM44:NM_006351:exon13:c.C1290A:p.D430E,	.	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.001	N	0.988	D	-0.67	N	-0.94	T	-0.946	T	0.089	T	0.058	0.461	6.501	-3.85	-0.467	-0.573	6.622	0.111	0.022094724321	.	.	.	.	.	.	.	.	.	.	.	.	.	rs771710174	6.849e-06	7.524e-06	6.815e-06	6.883e-06	0.0002	3.46e-06	2.53e-06	2.62e-06	1.68e-06	0	0	0	0	1.913e-05	0.0002	6.295e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.001364	0.39242	N	0.277259	0.988386	0.40754	D	-0.4	0.02994	N	-0.87	0.75325	T	0.5	0.02945	N	0.065	0.03726	-0.9457	0.41698	T	0.089	0.34298	T	10	0.028426707	0.00975	T	0.022095	0.44952	T	0.111	0.31313	0.276	0.22845	0.189391138174	0.18552	0.09513983562838181	0.09445	0.340530058476	0.35994	0.448148339987	0.31691	T	0.003371	0.23286	T	-0.237078	0.15723	T	-0.578323	0.14694	T	0.0266810599714518	0.01500	T	0.751925	0.38629	T	0.05995678	0.12247	0.04572525	0.06214	0.05995678	0.12247	0.04572525	0.06214	-4.086	0.25083	T	.	.	0.057	0.04356	B	.;.	.;.	-0.286012	0.02679	0.346	0.90479464548166677	0.19737	0.35229	0.25253	N	AEFDBCI	0.228155	0.35186	N	-1.31079947028924	0.03551	0.1588111	-1.18292257915997	0.06194	0.2974159	0.999998419108498	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.95	-3.85	0.03964	-0.871000	0.04331	-3.020000	0.03134	-0.119000	0.14319	0.010000	0.18352	0.000000	0.08366	0.990000	0.65344	0.5451:0.1361:0.3188:0.0	6.622	0.22002	877	0.30165	Tim44-like domain|Tim44-like domain;Tim44-like domain|Tim44-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3049.08	34	chr19	7927256	.	G	T	3049.08	.	AC=2;AF=0.048;AN=42;DP=894;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.50;SOR=0.830	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1120	20	1	0	0
chr19	8073154	8073154	C	T	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon62:c.G7846A:p.G2616R	.	.	421	1080	21	0	0	21	0.00962861	.	.	728505	FBN3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.34	T	0.994	D	0.872	P	0.155	U	1.000	N	-0.33	N	-2.95	D	-0.285	T	0.506	D	0.171	1.079	9.404	2.06	0.259	-0.153	8.820	0.292	.	0.0054	0.00199681	0.0065	0.0010	0.0034	0	0.0117	0.0088	0.0078	0.0038	0.0063	974	154602	rs142418616	0.0076	0.0076	0.0077	0.0075	0.0084	0.0075	0.0074	0.0082	0.0082	0.0008	0.0029	0.0087	2.519e-05	0.0128	0.0052	0.0084	0.0062	0.0034	0.0049	0.0049	0.0048	0.0050	0.0073	0.0046	0.0045	0.0068	0.0066	0.0009	0.0022	0.0016	0.0066	0	0.0134	0.0034	0.0073	0.0033	0.0025	0.104	0.29959	T	0.109	0.37449	T	0.975	0.58077	D	0.768	0.56752	P	0.155159	0.17839	U	0.560283	1	0.08975	N	0.32	0.10341	N	-2.95	0.91903	D	-2.46	0.53736	N	0.197	0.28146	-0.2854	0.75393	T	0.506	0.81392	D	10	0.005774915	0.00129	T	.	.	.	0.292	0.61157	0.557	0.67547	0.74081485506	0.73849	0.5158238274866157	0.51505	0.761114285655	0.64272	0.411991000175	0.26732	T	0.151781	0.49188	T	-0.369907	0.03599	T	-0.297583	0.44978	T	0.0363183276733586	0.03037	T	0.450155	0.12692	T	0.19684997	0.41529	0.114007376	0.27517	0.19684997	0.41529	0.114007376	0.27517	-3.685	0.19097	T	.	.	0.098	0.16275	B	.;.;.	.;.;.	1.438732	0.18577	13.81	0.97445608208339296	0.34002	0.09174	0.14982	N	AEFDBHCIJ	0.082163	0.16633	N	-0.566560742728089	0.19967	1.049155	-0.69816074903773	0.17006	0.9023293	0.999999920714553	0.74766	0.695654	0.57023	0	0.48864	0.07623	0	0.723109	0.80598	0	0.564101	0.26826	0	.	.	4.24	2.06	0.25932	-0.296000	0.08323	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.7637:0.1511:0.0852	8.820	0.34177	734	0.53889	EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2880.98	68	chr19	8073154	.	C	T	2880.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.602;DP=1267;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.33;ReadPosRankSum=2.79;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:77,0:77:99:.:.:0,120,1800	20	0	1	0
chr19	8091568	8091568	C	A	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon48:c.G5928T:p.E1976D	.	.	372	1148	2	0	0	2	0.000870322	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.121	B	0.069	B	0.000	U	0.986	D	-0.67	N	-2.23	D	-1.074	T	0.051	T	0.131	0.331	5.794	-0.654	0.325	0.085	5.598	0.032	0.0145337712162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.105e-06	4.104e-06	4.084e-06	4.126e-06	2.519e-05	1.48e-06	9.7e-07	7.2e-07	2e-07	0	0	0	2.519e-05	0	0	2.698e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.617	0.05357	T	0.404	0.14818	T	0.121	0.26708	B	0.069	0.27757	B	0.000184	0.48115	U	0.177050	0.986345	0.40418	D	-0.48	0.02689	N	-2.23	0.87116	D	-0.28	0.11547	N	0.148	0.18512	-1.0744	0.08472	T	0.051	0.21650	T	10	0.07459852	0.11424	T	0.014534	0.34707	T	0.193	0.47281	0.448	0.50793	0.741102556798	0.73878	0.5925443674499787	0.59184	0.216610546956	0.24181	0.374362260103	0.21456	T	0.066088	0.32855	T	-0.105413	0.35528	T	-0.389195	0.34645	T	0.129772022366524	0.15361	T	0.747925	0.36851	T	0.097245425	0.22920	0.053986907	0.09201	0.097245425	0.22920	0.053986907	0.09200	-5.009	0.36938	T	.	.	0.097	0.15654	B	.;.;.	.;.;.	1.207499	0.16000	12.25	0.72846141080354154	0.10116	0.75449	0.36941	D	AEFBI	0.310300	0.41636	N	-0.475793937373905	0.22875	1.224557	-0.479643415959389	0.22714	1.235156	0.0940004901510478	0.16195	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	4.45	-0.654	0.10868	0.124000	0.15557	.	.	0.596000	0.33519	0.955000	0.33325	0.000000	0.08366	0.679000	0.33513	0.1359:0.6274:0.0:0.2367	5.598	0.16623	758	0.50837	EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	833.98	43	chr19	8091568	.	C	A	833.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.220e-01;DP=816;ExcessHet=0.0000;FS=2.155;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=1.16;SOR=1.068	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1116	20	0	1	0
chr19	8109383	8109383	G	C	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon36:c.C4462G:p.R1488G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.999	D	0.884	P	0.000	U	1.000	D	2.21	M	-2.24	D	0.391	D	0.705	D	0.846	1.713	11.69	3.22	0.892	4.939	11.263	0.737	0.0656315427602	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772561196	2.052e-06	2.052e-06	1.361e-06	2.75e-06	2.319e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	0	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.032	0.53426	D	0.999	0.77913	D	0.884	0.62758	P	0.000000	0.84330	U	0.000000	0.99955	0.47544	D	3.995	0.96723	H	-2.24	0.87194	D	-5.88	0.88699	D	0.882	0.88027	0.391	0.88967	D	0.705	0.89849	D	10	0.9663882	0.96131	D	0.065632	0.69637	D	0.737	0.90852	0.775	0.90080	0.839564151336	0.83803	0.7882452680728784	0.78776	0.843796041893	0.68192	0.561881422997	0.47534	T	0.180627	0.53203	T	0.340542	0.85868	D	0.251388	0.85685	D	0.992354154586792	0.82813	D	0.945505	0.79230	D	0.56582284	0.70831	0.42446926	0.66286	0.56582284	0.70832	0.42446926	0.66286	-12.807	0.88552	D	.	.	0.702	0.73050	P	.;.;.	.;.;.	3.122499	0.42162	21.5	0.99245312501543537	0.56695	0.98531	0.83777	D	AEFDGBIJ	0.708573	0.66293	D	0.237179590365734	0.53010	3.471792	0.0858491546966587	0.43835	2.677161	0.937285696313694	0.27291	0.634777	0.41761	0	0.563428	0.19063	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	4.29	3.22	0.36041	4.222000	0.58378	.	.	0.614000	0.49286	1.000000	0.71638	0.859000	0.27469	0.111000	0.18785	0.0:0.0:0.6679:0.3321	11.263	0.48325	912	0.21483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1612.98	33	chr19	8109383	.	G	C	1612.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.619;DP=859;ExcessHet=0.0000;FS=5.850;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.41;ReadPosRankSum=-9.030e-01;SOR=1.131	GT:AD:DP:GQ:PL	0/1:85,70:155:99:1627,0,1966	20	0	1	0
chr19	8111069	8111069	C	T	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon33:c.G4199A:p.R1400Q	.	.	415	1089	17	1	0	19	0.00864816	.	.	1128262	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.044	B	0.027	B	0.003	U	0.999	N	1.41	L	-2.93	D	-0.450	T	0.493	T	0.082	0.486	6.636	1.43	0.147	-0.205	6.422	0.077	0.0572352569287	0.0012	0.000998403	0.0016	0.0002	0.0020	0.0019	0.0006	0.0021	0.0034	0.0006	0.0016041	248	154602	rs140448414	0.0017	0.0017	0.0017	0.0017	0.0142	0.0017	0.0016	0.0117	0.0108	0.0003	0.0026	0.0005	0.0018	0.0002	0.0142	0.0018	0.0016	0.0007	0.0017	0.0017	0.0019	0.0016	0.0032	0.0016	0.0015	0.0025	0.0022	0.0004	0.0077	0.0032	0.0006	0.0017	0	0.0102	0.0025	0.0024	0.0004	0.319	0.13610	T	0.402	0.14912	T	0.044	0.21686	B	0.027	0.21085	B	0.002601	0.36243	U	0.206112	0.999418	0.21230	N	2.05	0.56469	M	-2.93	0.91800	D	-1.57	0.37955	N	0.09	0.06854	-0.4500	0.70400	T	0.493	0.80757	T	10	0.0081424415	0.00185	T	0.057235	0.66892	D	0.077	0.22490	.	.	0.664903063441	0.66208	0.2750296332005099	0.27415	0.319035525961	0.34116	0.213713020086	0.00979	T	0.124644	0.44982	T	-0.429756	0.01487	T	-0.394706	0.34001	T	0.0168729701527566	0.00440	T	0.292171	0.05356	T	0.06540151	0.13973	0.05813196	0.10688	0.06540151	0.13973	0.05813196	0.10688	-5.347	0.40406	T	.	.	0.066	0.02091	B	.;.;.	.;.;.	1.502334	0.19308	14.20	0.95475789574083936	0.27030	0.04438	0.10037	N	AEFDBI	0.063337	0.12232	N	-0.821365042290503	0.12765	0.624336	-0.856969919442249	0.13121	0.6788787	0.532305430104596	0.21185	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	3.67	1.43	0.21585	-0.509000	0.06419	.	.	-0.175000	0.10903	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.0:0.4446:0.0:0.5554	6.422	0.20953	923	0.18507	EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2543.98	34	chr19	8111069	.	C	T	2543.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.63;DP=884;ExcessHet=0.0000;FS=7.138;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.39;ReadPosRankSum=0.986;SOR=1.143	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1463	20	0	1	0
chr19	8123798	8123798	C	T	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon23:c.G2942A:p.R981Q	.	.	422	1082	17	1	0	19	0.00870362	.	.	1149199	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.27	T	0.105	B	0.005	B	0.005	N	0.968	D	1.525	L	-2.21	D	-0.791	T	0.334	T	0.173	0.907	8.688	-2.4	-0.680	-0.164	8.030	0.213	0.00630185888527	0.0010	0.000998403	0.0015	0.0008	0.0020	0.0002	0.0002	0.0020	0.0047	0.0005	0.0015977	247	154602	rs147035742	0.0017	0.0017	0.0017	0.0017	0.0146	0.0016	0.0016	0.0121	0.0112	0.0005	0.0030	0.0005	7.557e-05	3.789e-05	0.0146	0.0019	0.0016	0.0008	0.0017	0.0017	0.0018	0.0016	0.0029	0.0015	0.0015	0.0022	0.0021	0.0007	0.0077	0.0029	0.0006	0.0002	0	0.0102	0.0025	0.0019	0.0004	0.025	0.47320	D	0.034	0.52727	D	0.105	0.25993	B	0.005	0.11217	B	0.004892	0.33292	N	0.265877	0.967826	0.38619	D	1.21	0.30464	L	-2.21	0.86963	D	-1.98	0.45769	N	0.199	0.21969	-0.7912	0.55659	T	0.334	0.70142	T	10	0.015554756	0.00326	T	0.006302	0.16551	T	0.213	0.50496	.	.	0.485991781493	0.48229	0.6298403361476462	0.62918	0.232148426963	0.25761	0.223081871867	0.01496	T	0.047907	0.27862	T	-0.407141	0.02077	T	-0.361285	0.37903	T	0.00994885775574709	0.00132	T	0.860814	0.55431	D	0.043586027	0.06818	0.04302608	0.05258	0.043586027	0.06818	0.04302608	0.05258	-7.864	0.60140	D	.	.	0.067	0.02342	B	.;.;.	.;.;.	-0.265406	0.02772	0.375	0.95980123835058828	0.28354	0.15338	0.18862	N	AEFDBI	0.137104	0.25798	N	-1.23649935210711	0.04481	0.2023165	-1.35407493213619	0.03758	0.1759698	0.00144747819953945	0.08543	0.631515	0.41029	0	0.573888	0.26702	0	0.697927	0.64325	0	0.613276	0.41899	0	.	.	3.41	-2.4	0.06204	-0.300000	0.08280	.	.	-1.112000	0.01489	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6111:0.0:0.3889	8.030	0.29619	934	0.15400	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	500.98	34	chr19	8123798	.	C	T	500.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.026e+00;DP=725;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.54;ReadPosRankSum=1.02;SOR=0.765	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr19	8138297	8138297	G	A	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon10:c.C1045T:p.R349W	.	.	.	.	.	.	.	.	.	.	.	1420453	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.431	B	0.109	B	0.000	U	1.000	N	0.345	N	-3.08	D	-0.415	T	0.475	T	0.274	0.811	8.260	0.761	0.034	0.934	7.419	0.276	0.0359836484223	.	.	0.0001	0	0	0.0015	0	1.573e-05	0	0	0.00011	17	154602	rs200666277	8.9e-05	9.235e-05	9.128e-05	8.669e-05	0.0025	7.628e-05	7.173e-05	0.0021	0.0019	0	9.006e-05	0	0.0025	1.878e-05	0	1.979e-05	3.317e-05	2.321e-05	9.853e-05	9.85e-05	6.422e-05	0.0001	0.0015	6.005e-05	4.878e-05	0.0008	0.0006	2.412e-05	0	6.54e-05	0	0.0015	0	0	5.879e-05	0	0.0002	0.017	0.51248	D	0.008	0.67890	D	0.431	0.35606	B	0.109	0.31370	B	0.000007	0.62929	U	0.063679	1.000	0.20292	N	0	0.06538	N	-3.08	0.92560	D	-0.45	0.14782	N	0.289	0.32701	-0.4148	0.71557	T	0.475	0.79862	T	10	0.029268712	0.01054	T	0.035984	0.56702	D	0.276	0.59253	0.524	0.62818	0.422883881359	0.41909	0.6644500993208319	0.66382	0.344482459952	0.36376	0.331635594368	0.15182	T	0.040908	0.25682	T	-0.302038	0.08469	T	-0.252185	0.49601	T	0.0517701996524766	0.05808	T	0.405859	0.10416	T	0.07230487	0.16074	0.0466057	0.06534	0.07230487	0.16073	0.0466057	0.06533	-6.658	0.51493	T	.	.	0.096	0.15385	B	.;.;.	.;.;.	1.575236	0.20165	14.62	0.96284973494175286	0.29295	0.14606	0.18491	N	AEFDBI	0.350798	0.44412	N	-1.12958535082374	0.06122	0.280991	-1.18355583576835	0.06184	0.2968714	2.15880230871157E-4	0.05997	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.562822	0.20929	0	.	.	4.21	0.761	0.17594	0.186000	0.16787	.	.	-1.894000	0.00530	0.000000	0.06391	0.002000	0.18203	0.000000	0.00833	0.0:0.5885:0.3203:0.0912	7.419	0.26233	934	0.15400	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1368.98	88	chr19	8138297	.	G	A	1368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=792;ExcessHet=0.0000;FS=1.762;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.56;ReadPosRankSum=0.448;SOR=0.860	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1279	20	0	1	0
chr19	8138490	8138490	G	T	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon9:c.C940A:p.R314S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.608	P	0.23	B	0.022	U	0.999	N	1.15	L	-3.12	D	-0.295	T	0.570	D	0.306	2.626	14.74	2.87	1.974	6.198	9.106	0.405	0.0473015502715	.	.	.	.	.	.	.	.	.	.	.	.	.	rs753107151	3.423e-06	4.104e-06	0	6.879e-06	4.639e-05	1e-06	7.3e-07	1.583e-05	9.3e-06	0	0	0	0	1.902e-05	0	0	0	4.639e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	0	0	0.0006	0.002	0.72154	D	0.005	0.72224	D	0.608	0.39540	P	0.23	0.38212	B	0.021550	0.26810	U	0.360841	0.999246	0.21461	N	1.935	0.51832	L	-3.12	0.92774	D	-1.66	0.39692	N	0.214	0.23884	-0.2952	0.75119	T	0.570	0.84444	D	10	0.35278967	0.52100	T	0.047302	0.62860	D	0.405	0.71791	0.702	0.83869	0.799327555895	0.79745	0.5120079426920053	0.51122	0.224318780374	0.24958	0.296723723412	0.09914	T	0.183801	0.53626	T	0.0216909	0.54609	T	-0.105989	0.62929	T	0.665866553783417	0.39154	D	0.948005	0.79945	D	0.6462816	0.75165	0.5097127	0.71666	0.6462816	0.75167	0.5097127	0.71667	-9.354	0.69946	D	.	.	0.200	0.42390	B	.;.;.	.;.;.	3.074507	0.41339	21.3	0.99290548605896367	0.58255	0.49690	0.28491	N	AEFDBI	0.209475	0.33546	N	-0.074062845105362	0.38534	2.258293	-0.0749564425894651	0.36429	2.119907	0.142317902113493	0.17296	0.631515	0.41029	0	0.547309	0.14657	0	0.697927	0.64325	0	0.613276	0.41899	0	.	.	4.06	2.87	0.32523	4.988000	0.63592	.	.	0.669000	0.69127	0.999000	0.42656	0.000000	0.08366	0.896000	0.43308	0.0:0.0:0.5077:0.4923	9.106	0.35860	934	0.15400	TB domain|TB domain;TB domain|TB domain;TB domain|TB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	673.98	37	chr19	8138490	.	G	T	673.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.196;DP=805;ExcessHet=0.0000;FS=3.680;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=0.635;SOR=0.307	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	20	0	1	0
chr19	8144930	8144930	C	T	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon6:c.G488A:p.G163E	.	.	.	.	.	.	.	.	.	.	.	1567272	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.000	U	1.000	D	1.665	L	-2.21	D	0.570	D	0.726	D	0.76	3.594	18.30	3.94	1.934	4.277	14.905	0.705	0.0253399543534	.	0.000998403	0.0007	0	0	0	0	1.779e-05	0	0.0054	0.000511	79	154602	rs373422307	0.0003	0.0003	0.0001	0.0004	0.0039	0.0002	0.0002	0.0036	0.0035	2.988e-05	0	0	0	0	0.0005	4.498e-06	0.0003	0.0039	0.0001	0.0001	0.0001	0.0002	0.0042	9.148e-05	7.703e-05	0.0028	0.0023	0	0	0	0	0	0	0	1.47e-05	0	0.0042	0.002	0.72154	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	U	0.000000	0.999969	0.52935	D	1.94	0.52218	M	-2.21	0.86963	D	-4.87	0.81269	D	0.863	0.87917	0.570	0.91503	D	0.726	0.90607	D	10	0.054119915	0.05713	T	0.02534	0.48313	D	0.705	0.89422	.	.	0.876531375998	0.87532	0.5330670079532958	0.53231	0.859916652341	0.68908	0.644229948521	0.59165	T	0.187046	0.54053	T	-0.0599788	0.42911	T	0.140787	0.79595	D	0.245530770978215	0.22671	T	0.873313	0.58144	D	0.7956616	0.83630	0.77743065	0.86871	0.7956616	0.83631	0.77743065	0.86872	-8.929	0.67239	D	.	.	0.318	0.54368	B	.;.;.	.;.;.	4.056353	0.60165	24.2	0.99743799241169351	0.83703	0.94572	0.61602	D	AEFDBI	0.763458	0.70055	D	0.39201848409901	0.60990	4.294	0.305562582053453	0.55864	3.749444	0.999995641732155	0.74766	0.732398	0.92422	0	0.547309	0.14657	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	3.94	3.94	0.44807	7.448000	0.79687	.	.	0.469000	0.21855	1.000000	0.71638	0.669000	0.26057	0.530000	0.29707	0.0:1.0:0.0:0.0	14.905	0.70355	940	0.13648	EGF-like domain|EGF-like domain;EGF-like domain|EGF-like domain;EGF-like domain|EGF-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	902.98	36	chr19	8144930	.	C	T	902.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.96;DP=799;ExcessHet=0.0000;FS=1.768;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.92;ReadPosRankSum=-3.270e-01;SOR=0.980	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1145	20	0	1	0
chr19	8324457	8324457	C	T	exonic	KANK3	.	nonsynonymous SNV	KANK3:NM_198471:exon10:c.G2374A:p.D792N,	.	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.052	B	0.014	B	.	.	1.000	N	0.345	N	1.69	T	-1.013	T	0.033	T	0.028	0.800	8.211	3.57	1.074	0.370	7.286	0.031	0.00764050621881	.	0.00139776	0.0016	0.0002	0	0	0.0006	0.0006	0.0027	0.0056	0.0006145	95	154602	rs74322373	0.0003	0.0003	0.0002	0.0004	0.0037	0.0003	0.0003	0.0034	0.0032	0.0001	2.35e-05	0	0	0.0001	0.0009	7.504e-05	0.0003	0.0037	0.0001	0.0001	0.0001	0.0002	0.0031	9.141e-05	7.697e-05	0.0019	0.0015	7.215e-05	0	0	0	0	9.413e-05	0.0034	0	0.0005	0.0031	0.535	0.06913	T	0.523	0.10967	T	0.052	0.22494	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	1.69	0.27032	T	0.21	0.04776	N	0.162	0.17691	-1.0128	0.26038	T	0.033	0.14160	T	9	0.00474447	0.00100	T	0.007641	0.20272	T	0.031	0.07369	0.172	0.07774	0.223146558224	0.21909	0.11353299386998926	0.11281	.	.	0.303341627121	0.10901	T	0.003642	0.03050	T	-0.696001	0.00039	T	-0.774007	0.02639	T	0.0192864773054423	0.00634	T	0.375462	0.08961	T	0.069757245	0.15311	0.07369581	0.16044	0.069757245	0.15310	0.07369581	0.16044	-4.769	0.34228	T	.	.	0.076	0.09868	B	.;.	.;.	0.644247	0.10126	6.872	0.74874219935048658	0.10860	0.14610	0.18494	N	AEFDBHCI	0.095398	0.19274	N	-0.900765921511601	0.10824	0.5191996	-0.87980800796481	0.12573	0.6475249	0.999999824720997	0.74766	0.67177	0.52595	0	0.289287	0.05216	2	0.779548	0.98927	0	0.711	0.71501	0	.	.	4.64	3.57	0.40014	-0.195000	0.09546	.	.	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.8693:0.0:0.1307	7.286	0.25514	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	541.98	40	chr19	8324457	.	C	T	541.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=818;ExcessHet=0.0000;FS=5.345;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.69;ReadPosRankSum=-1.073e+00;SOR=1.458	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1152	20	0	1	0
chr19	8334003	8334003	G	T	exonic	KANK3	.	nonsynonymous SNV	KANK3:NM_198471:exon5:c.C1541A:p.S514Y,	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.681	P	0.371	B	.	.	1.000	N	1.5	L	1.62	T	-1.054	T	0.073	T	0.283	2.399	13.98	2.14	0.421	0.414	8.005	0.022	0.0305231919329	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1452263683	4.992e-06	7.524e-06	1.412e-06	8.644e-06	0.0004	2.08e-06	1.34e-06	7.268e-05	3.021e-05	0	0	0	0	5.269e-05	0.0004	9.192e-07	0	2.476e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.28271	T	0.022	0.58613	D	0.681	0.41422	P	0.371	0.43568	B	.	.	.	.	1	0.08975	N	2.56	0.74772	M	1.62	0.32722	T	-1.66	0.39692	N	0.237	0.26717	-1.0544	0.13198	T	0.073	0.29451	T	9	0.13614258	0.25903	T	0.030523	0.52819	D	0.022	0.04323	0.265	0.21103	0.404453528171	0.40057	0.156205849202821	0.15541	.	.	0.697434008121	0.66774	T	0.051456	0.43590	T	-0.0333782	0.46924	T	-0.285722	0.46216	T	0.234629211777509	0.22170	T	0.687031	0.29593	T	0.034728087	0.03952	0.05842535	0.10794	0.034728087	0.03952	0.05842535	0.10793	-9.285	0.69513	D	.	.	0.140	0.35456	B	.;.;.	.;.;.	1.645038	0.20990	15.00	0.95742532760347698	0.27702	0.16184	0.19270	N	AEFDBHCI	0.129338	0.24747	N	-0.504340532272225	0.21939	1.167986	-0.641318979910894	0.18437	0.984859	0.99923483702541	0.38840	0.562547	0.31514	0	0.627178	0.54094	0	0.64067	0.45733	0	0.635551	0.53088	0	.	.	4.36	2.14	0.26518	0.041000	0.13813	.	.	0.676000	0.76740	0.000000	0.06391	1.000000	0.68203	0.003000	0.05239	0.091:0.1616:0.7474:0.0	8.005	0.29482	934	0.15400	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1088.98	33	chr19	8334003	.	G	T	1088.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.784e+00;DP=1069;ExcessHet=0.0000;FS=2.068;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.01;ReadPosRankSum=1.92;SOR=0.430	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,117,1599	20	0	1	0
chr19	8445092	8445092	G	C	exonic	HNRNPM	.	nonsynonymous SNV	HNRNPM:NM_005968:exon1:c.G94C:p.G32R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.999	D	0.945	D	0.000	D	0.998	D	0.695	N	2.7	T	-1.119	T	0.051	T	0.473	3.095	16.34	4.04	2.352	2.111	8.476	0.135	0.155927836095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.206	0.62352	T	0.998	0.73220	D	0.945	0.68163	D	0.000031	0.55875	D	0.000000	0.99811	0.44524	D	0.895	0.22405	L	2.7	0.20122	T	-0.18	0.09796	N	0.424	0.48872	-1.1186	0.02421	T	0.051	0.21767	T	10	0.261638	0.43625	T	0.155928	0.83678	D	0.135	0.36572	0.294	0.25720	0.422872527889	0.41901	0.5286889482187896	0.52792	0.671510168274	0.59462	0.723069250584	0.70494	T	0.094317	0.39391	T	-0.103108	0.35909	T	-0.385884	0.35032	T	0.902289211750031	0.55521	D	0.89491	0.65538	D	0.084774874	0.19637	0.21407256	0.45944	0.084774874	0.19636	0.21407256	0.45943	-7.807	0.61343	D	.	.	0.158	0.57224	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.142343	0.62066	24.4	0.99222613971225182	0.55963	0.88193	0.48012	D	ALL	0.402297	0.47644	N	0.348553319629901	0.58663	4.039971	0.371567623110632	0.59819	4.162974	0.999999999999599	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.07	4.04	0.46262	1.564000	0.35983	.	.	-0.193000	0.09282	1.000000	0.71638	1.000000	0.68203	0.819000	0.38590	0.1042:0.0:0.8958:0.0	8.476	0.32175	779	0.47767	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1134.98	33	chr19	8445092	.	G	C	1134.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.790e-01;DP=795;ExcessHet=0.0000;FS=2.750;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.47;ReadPosRankSum=0.479;SOR=0.462	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1105	20	0	1	0
chr19	8498827	8498827	-	C	exonic	PRAM1	.	frameshift insertion	PRAM1:NM_032152:exon2:c.980dupG:p.G328Rfs*34,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1229338826	6.928e-07	6.841e-07	1.376e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.676e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	985.94	39	chr19	8498827	.	G	GC	985.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.950e-01;DP=1188;ExcessHet=0.0000;FS=0.889;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.08;ReadPosRankSum=0.588;SOR=0.582	GT:AD:DP:GQ:PL	0/1:34,36:70:99:1000,0,957	20	0	1	0
chr19	8603793	8603793	G	T	exonic	ADAMTS10	.	nonsynonymous SNV	ADAMTS10:NM_030957:exon5:c.C527A:p.P176Q,	Weill-Marchesani syndrome 1, recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.991	D	0.913	D	0.000	D	1.000	D	2.095	M	3.32	T	-1.231	T	0.056	T	0.85	4.442	23.7	5.72	2.705	9.152	18.867	0.415	0.0141484529073	.	.	1.649e-05	0	0	0	0	2.999e-05	0	0	1.29e-05	2	154602	rs782617164	1.573e-05	1.573e-05	9.529e-06	2.2e-05	0.0002	1.048e-05	8.75e-06	1.213e-05	1.03e-05	0	0	0	0	0	0.0002	1.888e-05	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.11	0.37310	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	3.32	0.06214	T	-5.43	0.85323	D	0.905	0.92084	-1.2306	0.00029	T	0.056	0.23715	T	10	0.89904296	0.89263	D	0.014148	0.34071	T	0.415	0.72555	0.579	0.70476	0.60316516996	0.59998	0.8476842614675466	0.84729	1.5592661189	0.88022	0.592181563377	0.51802	T	.	.	.	0.0948601	0.63732	D	-0.0378706	0.67845	D	0.952938914299011	0.63909	D	0.822818	0.48291	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57460	A	.;.	.;.	3.736043	0.53465	23.4	0.99124027890661881	0.53063	0.99328	0.94563	D	AEFDBI	0.891709	0.82794	D	0.812022270118136	0.86851	9.020388	0.800860462447634	0.89854	10.14908	0.999999970626446	0.74766	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	5.72	5.72	0.89380	9.306000	0.95285	.	.	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:0.0:1.0:0.0	18.867	0.92263	840	0.37365	Peptidase M12B, propeptide;Peptidase M12B, propeptide	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1406.98	34	chr19	8603793	.	G	T	1406.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.79;DP=801;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=0.683;SOR=0.732	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1244	20	0	1	0
chr19	8871627	8871627	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon70:c.G41972A:p.R13991Q,	.	.	421	1086	15	0	0	15	0.00685871	.	.	3191483	MUC16-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.23	T	0.89	P	0.633	P	0.098	N	.	.	2.445	M	1.42	T	-0.960	T	0.099	T	0.062	-0.068	3.666	-0.826	-0.300	-0.283	8.353	0.054	.	0.0041	0.00559105	0.0027	0.0127	0.0025	0	0	0.0007	0.0047	0.0092	0.0024385	377	154602	rs114920126	0.0011	0.0012	0.0010	0.0013	0.0118	0.0011	0.0011	0.0108	0.0104	0.0118	0.0023	0.0003	0	1.9e-05	0.0066	0.0004	0.0020	0.0062	0.0042	0.0042	0.0042	0.0042	0.0124	0.0039	0.0038	0.0115	0.0111	0.0124	0	0.0027	0.0009	0.0002	0	0.0170	0.0006	0.0028	0.0050	0.253	0.16958	T	0.295	0.20680	T	.	.	.	.	.	.	0.097604	0.02516	N	2.322730	1	0.08975	N	.	.	.	1.42	0.33189	T	-1.15	0.29525	N	0.095	0.07535	-0.9599	0.39199	T	0.099	0.36957	T	9	0.0040629804	0.00079	T	.	.	.	0.054	0.15330	.	.	0.0846915920261	0.08053	0.3408060841972615	0.33993	.	.	0.196139812469	0.00353	T	.	.	.	-0.657159	0.00065	T	-0.705709	0.05519	T	0.0126676945277565	0.00212	T	0.319768	0.06432	T	.	.	.	.	.	.	.	.	-5.141	0.38336	T	.	.	0.066	0.02200	B	.	.	0.363628	0.07360	3.982	0.9350958345138678	0.23321	0.01338	0.04604	N	AEFBI	0.036982	0.05014	N	-1.17523555218169	0.05376	0.2449383	-1.33753350985914	0.03954	0.1855621	1.27795500861326E-6	0.01202	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	3.89	-0.826	0.10260	-0.281000	0.08489	.	.	-1.012000	0.01762	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.5815:0.0:0.4185	8.353	0.31475	958	0.09170	SEA domain|SEA domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	780.11	28	chr19	8871627	.	C	T	780.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.92;DP=670;ExcessHet=0.1072;FS=0.970;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.00;ReadPosRankSum=-9.600e-02;SOR=0.569	GT:AD:DP:GQ:PL	0/0:34,0:34:90:0,90,1350	19	0	2	0
chr19	8882357	8882357	T	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon67:c.A41726C:p.H13909P,	.	.	405	1047	70	0	0	70	0.0323475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.959	D	0.956	D	.	.	.	.	1.765	L	1.42	T	-0.925	T	0.118	T	0.189	1.700	11.64	0.168	-0.171	0.416	3.103	0.028	0.00792783571824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796735167	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.375e-05	0.0031	2.685e-05	0	5.047e-05	2.28e-06	8.6e-07	8.36e-06	3.13e-06	5.047e-05	0	0	0	0	0	0	0	0	0	0.013	0.53900	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.42	0.33189	T	-2.13	0.48354	N	0.169	0.17966	-0.9248	0.44886	T	0.118	0.41538	T	8	0.10297388	0.18905	T	0.007928	0.21033	T	0.032	0.07718	.	.	0.12205267543	0.11705	0.27533970181248574	0.27446	.	.	0.296447068453	0.09873	T	.	.	.	-0.231789	0.16411	T	-0.570725	0.15383	T	0.117542110383511	0.14187	T	0.136186	0.01076	T	.	.	.	.	.	.	.	.	-5.776	0.44365	T	.	.	0.094	0.14523	B	.	.	1.063717	0.14459	11.03	0.92759947552597488	0.22269	0.03584	0.08802	N	AEFBI	0.044049	0.07038	N	-0.65132752016793	0.17421	0.8963414	-0.848972519843682	0.13313	0.6899027	8.8082630228839E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.64	0.168	0.14298	-0.323000	0.08039	.	.	0.481000	0.22134	0.000000	0.06391	0.000000	0.08366	0.263000	0.23594	0.0:0.1579:0.2494:0.5927	3.103	0.05949	958	0.09170	SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04545	534.89	209	chr19	8882357	.	T	G	534.89	.	AC=1;AF=0.045;AN=22;BaseQRankSum=-2.579e+00;DP=2817;ExcessHet=0.0000;FS=5.648;InbreedingCoeff=-0.1667;MLEAC=2;MLEAF=0.091;MQ=58.04;MQRankSum=-1.092e+01;QD=3.00;ReadPosRankSum=1.24;SOR=1.324	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:77,0:77:99:.:.:0,120,1800	10	0	1	10
chr19	8882360	8882360	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon67:c.C41723A:p.T13908N,	.	.	407	1050	65	0	0	65	0.0300231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.994	D	0.98	D	.	.	.	.	1.72	L	1.43	T	-0.911	T	0.117	T	0.092	2.082	12.92	1.57	1.418	-0.181	4.506	0.034	0.00551552653495	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175263485	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.846e-06	0.0029	1.337e-05	0	2.514e-05	0	0	.	.	2.514e-05	0	0	0	0	0	0	0	0	0	0.167	0.23095	T	0.11	0.37310	T	.	.	.	.	.	.	.	.	.	.	0.99995	0.19072	N	.	.	.	1.43	0.32958	T	-1.48	0.36189	N	0.215	0.24010	-0.9114	0.46682	T	0.117	0.41165	T	8	0.12792793	0.24332	T	0.005516	0.14197	T	0.036	0.09122	.	.	0.17948927462	0.17512	0.1012481156749268	0.10055	.	.	0.334889471531	0.15672	T	.	.	.	-0.280333	0.10633	T	-0.640456	0.09636	T	0.303562044834163	0.25150	T	0.377862	0.09067	T	.	.	.	.	.	.	.	.	-8.949	0.67368	D	.	.	0.129	0.27553	B	.	.	1.151135	0.15394	11.82	0.98214552204547234	0.39246	0.04046	0.09490	N	AEFBI	0.032139	0.03572	N	-0.171701422619438	0.34317	1.957244	-0.381415807223033	0.25551	1.405855	1.60312416966797E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.64	1.57	0.22490	0.080000	0.14657	.	.	0.488000	0.22294	0.002000	0.15269	0.022000	0.20871	0.320000	0.24970	0.1933:0.0:0.8067:0.0	4.506	0.11297	958	0.09170	SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04167	528.53	208	chr19	8882360	.	G	T	528.53	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-2.917e+00;DP=2809;ExcessHet=0.0000;FS=5.645;InbreedingCoeff=-0.1613;MLEAC=2;MLEAF=0.083;MQ=58.01;MQRankSum=-1.098e+01;QD=2.94;ReadPosRankSum=1.68;SOR=1.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:77,0:77:99:.:.:0,120,1800	11	0	1	9
chr19	8885665	8885665	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon61:c.A41231G:p.N13744S,	.	.	427	1087	7	0	1	8	0.00320954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.917	P	0.915	D	0.677	U	.	.	1.875	L	2.62	T	-0.936	T	0.121	T	0.052	0.361	5.958	-6.81	-3.213	-1.898	7.535	0.026	0.00778774216405	.	0.000599042	0.0006	0	0.0021	0	0.0002	0.0007	0.0011	0.0002	0.0006274	97	154602	rs200034208	0.0004	0.0004	0.0004	0.0004	0.0080	0.0004	0.0004	0.0062	0.0055	0.0002	0.0019	0.0030	0	1.873e-05	0.0080	0.0003	0.0009	0.0002	0.0005	0.0005	0.0005	0.0005	0.0020	0.0004	0.0004	0.0014	0.0012	0	0	0.0020	0.0029	0	0	0.0034	0.0004	0.0014	0.0004	0.143	0.25355	T	0.109	0.37449	T	.	.	.	.	.	.	0.677227	0.06071	U	1.270180	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.69	0.19720	N	0.133	0.12913	-0.9356	0.43303	T	0.121	0.42058	T	9	0.0050973296	0.00110	T	0.007788	0.20668	T	0.045	0.12272	.	.	0.0138822411134	0.00435	0.2538184944056412	0.25295	.	.	0.202915936708	0.00546	T	.	.	.	-0.687575	0.00043	T	-0.79051	0.02151	T	0.0212829370191823	0.00830	T	0.270573	0.04555	T	.	.	.	.	.	.	.	.	-1.803	0.02518	T	.	.	0.080	0.07841	B	.	.	-0.943135	0.00856	0.030	0.51618427193325223	0.04596	0.00659	0.02856	N	AEFBI	0.033601	0.04018	N	-1.75824916017505	0.00655	0.02827615	-2.00815151153331	0.00295	0.0129998	0.243931175949956	0.18603	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.4	-6.81	0.01543	-2.590000	0.00974	.	.	-1.283000	0.01266	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4517:0.2274:0.3209	7.535	0.26875	952	0.10565	SEA domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2952.98	36	chr19	8885665	.	T	C	2952.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=971;ExcessHet=0.0000;FS=1.728;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.84;ReadPosRankSum=-2.086e+00;SOR=0.825	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr19	8888076	8888076	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon58:c.C40831T:p.P13611S,	.	.	418	1044	60	0	0	60	0.027933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.992	D	0.979	D	.	.	.	.	.	.	4.69	T	-1.012	T	0.008	T	0.059	-1.220	0.063	0.949	-0.089	-0.973	3.025	0.062	0.00233003514531	.	.	3.616e-05	0	0.0003	0	0	3.289e-05	0	0	1.29e-05	2	154602	rs746956602	7.602e-06	9.577e-06	5.489e-06	9.747e-06	4.683e-05	4.08e-06	2.98e-06	7.76e-06	2.9e-06	0	4.683e-05	0	0	0	0	8.147e-06	0	0	1.999e-05	6.604e-05	1.302e-05	2.729e-05	4.444e-05	5.31e-06	2.47e-06	1.18e-05	6.27e-06	0	0	0	0	0	0	0	4.444e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.69	0.01694	T	0.77	0.01949	N	0.055	0.02658	-1.0125	0.26133	T	0.008	0.02720	T	7	0.042926937	0.03089	T	0.00233	0.04507	T	0.062	0.17934	.	.	0.0551355673512	0.04727	0.1259688714579419	0.12522	.	.	0.296296924353	0.09851	T	.	.	.	-0.398369	0.02373	T	-0.810006	0.01665	T	0.015891833190803	0.00374	T	0.249275	0.03729	T	.	.	.	.	.	.	.	.	-1.842	0.02637	T	.	.	0.054	0.00321	B	.	.	0.192461	0.05785	2.226	0.4151298757620755	0.03000	0.00011	0.00159	N	AEFBI	0.010308	0.00072	N	-1.14269125215029	0.05901	0.2702541	-1.32095895774873	0.04160	0.1956212	9.77839227391231E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.949	0.949	0.18691	-0.098000	0.10993	.	.	-0.176000	0.10722	0.001000	0.13787	0.001000	0.17328	0.004000	0.06068	0.7048:0.0:0.2952:0.0	3.025	0.05719	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1562	122.45	92	chr19	8888076	.	G	A	122.45	.	AC=5;AF=0.156;AN=32;BaseQRankSum=3.74;DP=1860;ExcessHet=1.1607;FS=1.103;InbreedingCoeff=-0.2118;MLEAC=5;MLEAF=0.156;MQ=59.49;MQRankSum=-7.474e+00;QD=0.28;ReadPosRankSum=-6.410e-01;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:107,0:107:0:.:.:0,0,2057	11	0	5	5
chr19	8888087	8888087	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon58:c.T40820C:p.I13607T,	.	.	417	1041	64	0	0	64	0.0298229	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.831	P	0.824	P	.	.	.	.	.	.	4.62	T	-1.022	T	0.007	T	0.058	0.123	4.662	-0.566	-0.690	-0.913	4.301	0.040	.	8.4e-05	.	1.843e-05	0.0002	0	0	0	0	0	0	6.5e-06	1	154602	rs375722672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	1.51	0.00728	N	0.064	0.03613	-1.0221	0.23031	T	0.007	0.02244	T	7	0.046363264	0.03818	T	0.003776	0.08775	T	0.053	0.14996	.	.	0.0806252709748	0.07271	0.08113719990746966	0.08048	.	.	0.292725682259	0.09321	T	.	.	.	-0.410319	0.01978	T	-0.827171	0.01313	T	0.0205199335667818	0.00752	T	0.121488	0.00940	T	.	.	.	.	.	.	.	.	0.215	0.00281	T	.	.	0.092	0.13503	B	.	.	0.530896	0.08997	5.778	0.92029181334311316	0.21368	0.00015	0.00188	N	AEFBI	0.020964	0.00883	N	-0.812734170393172	0.12984	0.636566	-1.13990611673498	0.06950	0.3363392	1.26604863044529E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.949	-0.566	0.11178	-0.613000	0.05705	.	.	-0.251000	0.07141	0.002000	0.15269	0.000000	0.08366	0.069000	0.16583	0.5985:0.0:0.4015:0.0	4.301	0.10367	952	0.10565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	240.03	93	chr19	8888087	.	A	G	240.03	.	AC=3;AF=0.100;AN=30;BaseQRankSum=3.33;DP=1799;ExcessHet=0.3300;FS=3.998;InbreedingCoeff=-0.1687;MLEAC=4;MLEAF=0.133;MQ=59.66;MQRankSum=-4.196e+00;QD=0.85;ReadPosRankSum=-3.330e-01;SOR=1.412	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:100,0:100:0:.:.:0,0,2065	12	0	3	6
chr19	8888733	8888733	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.A40766G:p.D13589G,	.	.	394	1124	2	2	0	6	0.00266193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.982	D	0.968	D	.	.	.	.	2.395	M	1.09	T	-0.651	T	0.212	T	0.393	1.662	11.51	2.45	0.542	0.611	5.345	0.044	0.0236134229931	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796460354	0	6.43e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.833e-05	0.0030	1.791e-05	1.877e-05	9.259e-05	3.04e-06	1.14e-06	.	.	3.401e-05	0	9.259e-05	0	0	0	0	0	0	0	0.019	0.50132	D	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	0.999995	0.08975	N	.	.	.	1.09	0.39223	T	-1.59	0.38345	N	0.407	0.44761	-0.6514	0.62653	T	0.212	0.57321	T	8	0.20552856	0.36782	T	0.023613	0.46578	T	0.128	0.35103	.	.	0.146414634003	0.14194	0.19770301623938222	0.19687	.	.	0.299555659294	0.10335	T	.	.	.	-0.119382	0.33225	T	-0.409261	0.32310	T	0.348448395729065	0.26958	T	0.735226	0.35154	T	.	.	.	.	.	.	.	.	-7.689	0.58931	D	.	.	0.133	0.28664	B	.	.	1.835629	0.23322	15.97	0.9959769039303753	0.73983	0.08628	0.14530	N	AEFBI	0.055099	0.10074	N	-0.264095193715853	0.30545	1.704151	-0.390882496758417	0.25267	1.388531	2.4161992490188E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	2.45	0.28953	0.202000	0.17094	.	.	0.639000	0.52094	0.000000	0.06391	0.000000	0.08366	0.226000	0.22626	0.0:0.1363:0.0:0.8637	5.345	0.15307	952	0.10565	SEA domain|SEA domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	512.83	332	chr19	8888733	.	T	C	512.83	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.43;DP=8357;ExcessHet=0.3300;FS=1.030;InbreedingCoeff=-0.1053;MLEAC=3;MLEAF=0.079;MQ=55.95;MQRankSum=-8.927e+00;QD=0.36;ReadPosRankSum=-4.902e+00;SOR=1.024	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:349,0:349:99:.:.:0,120,1800	16	0	3	2
chr19	8888745	8888745	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.C40754T:p.T13585I,	.	.	393	977	1	2	149	154	0.00255232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.984	D	0.964	D	.	.	.	.	0.49	N	2.21	T	-1.029	T	0.047	T	0.503	2.024	12.72	1.25	0.783	0.218	4.503	0.021	0.00806063036646	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75266616	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	8.066e-05	0.0052	9.833e-05	6.207e-05	0.0003	3.961e-05	2.899e-05	3.435e-05	1.476e-05	0.0001	0	0.0002	0	0.0003	0.0001	0	2.348e-05	0	0	0.007	0.59928	D	0.117	0.36365	T	.	.	.	.	.	.	.	.	.	.	0.999919	0.19599	N	.	.	.	2.21	0.18414	T	-1.31	0.32791	N	0.284	0.32148	-1.0288	0.20843	T	0.047	0.19958	T	8	0.19550985	0.35406	T	0.008061	0.21368	T	0.147	0.38986	.	.	0.15556083564	0.15200	0.2225390080387863	0.22168	.	.	0.375644803047	0.21638	T	.	.	.	-0.16957	0.25299	T	-0.481352	0.24304	T	0.344821783264657	0.26815	T	0.0674933	0.00492	T	.	.	.	.	.	.	.	.	-7.428	0.57102	T	.	.	0.116	0.23360	B	.	.	1.705751	0.21725	15.32	0.9981530341282232	0.89885	0.47447	0.27985	N	AEFBI	0.095609	0.19314	N	-0.156012332511241	0.34978	2.00343	-0.1738091635021	0.32503	1.849856	1.14764749978257E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.25	0.20475	-0.043000	0.11996	.	.	-0.132000	0.13132	0.926000	0.32145	0.000000	0.08366	0.009000	0.08673	0.1321:0.2319:0.6359:0.0	4.503	0.11285	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2778	8877.76	382	chr19	8888745	.	G	A,C	8877.76	.	AC=6,4;AF=0.167,0.111;AN=36;BaseQRankSum=-3.070e-01;DP=10156;ExcessHet=6.1002;FS=0.787;InbreedingCoeff=-0.3771;MLEAC=7,4;MLEAF=0.194,0.111;MQ=56.21;MQRankSum=-1.029e+01;QD=1.61;ReadPosRankSum=-1.286e+00;SOR=0.853	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:349,0,0:349:99:.:.:0,120,1800,120,1800,1800	8	0	6	3
chr19	8888746	8888746	T	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.A40753C:p.T13585P,	.	.	389	1129	2	2	0	6	0.00265018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.986	D	0.964	D	.	.	.	.	1.04	L	1.83	T	-0.975	T	0.078	T	0.685	2.193	13.29	1.26	0.083	0.610	2.783	0.243	0.0120267409717	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796543936	6.848e-07	0.0002	1.363e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	8.155e-05	0.0054	7.944e-05	8.377e-05	0.0003	3.999e-05	2.926e-05	3.581e-05	1.462e-05	7.564e-05	0	0.0002	0	0.0003	0.0001	0	4.466e-05	0	0	0.003	0.68238	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	0.999901	0.19694	N	.	.	.	1.83	0.24841	T	-1.47	0.35991	N	0.343	0.38438	-0.9752	0.36082	T	0.078	0.31224	T	8	0.23827633	0.40944	T	0.012027	0.30231	T	0.243	0.54921	.	.	0.183819452728	0.17975	0.3716080186309978	0.37074	.	.	0.330018043518	0.14937	T	.	.	.	-0.0267869	0.47882	T	-0.276254	0.47187	T	0.55762339756057	0.34765	D	0.381362	0.09225	T	.	.	.	.	.	.	.	.	-9.731	0.72285	D	.	.	0.197	0.41903	B	.	.	1.973733	0.25071	16.63	0.99543563627523812	0.70648	0.56973	0.30255	D	AEFBI	0.258310	0.37687	N	0.00527281236618241	0.42094	2.529898	-0.0874775071530277	0.35907	2.083018	1.07242915990077E-5	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.26	0.20534	0.979000	0.29098	.	.	0.639000	0.52094	0.948000	0.32982	0.000000	0.08366	0.008000	0.08271	0.2207:0.1276:0.0:0.6517	2.783	0.05037	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	3176.11	382	chr19	8888746	.	T	G	3176.11	.	AC=7;AF=0.194;AN=36;BaseQRankSum=0.772;DP=10365;ExcessHet=2.5830;FS=7.108;InbreedingCoeff=-0.2519;MLEAC=8;MLEAF=0.222;MQ=55.81;MQRankSum=-1.024e+01;QD=0.81;ReadPosRankSum=-3.634e+00;SOR=1.488	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:349,0:349:99:.:.:0,120,1800	11	0	7	3
chr19	8888763	8888763	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.C40736T:p.T13579I,	.	.	386	1130	5	1	0	7	0.00308778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.984	D	0.964	D	.	.	.	.	2.79	M	1.22	T	-0.601	T	0.206	T	0.319	0.402	6.184	0.756	0.311	2.938	8.036	0.147	0.0225181638308	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796202949	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0097	0.0001	0.0003	0.0007	0.0001	0.0001	0.0002	9.48e-05	0.0003	0	0.0005	0	0.0007	0.0002	0	7.466e-05	0.0009	0	0.033	0.44358	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.22	0.37052	T	-1.81	0.42575	N	0.404	0.44474	-0.6010	0.64776	T	0.206	0.56485	T	8	0.24742359	0.42022	T	0.022518	0.45416	T	0.147	0.38986	.	.	0.152612264143	0.14878	0.39111607982275465	0.39026	.	.	0.523282647133	0.42088	T	.	.	.	-0.124778	0.32344	T	-0.417012	0.31417	T	0.544527530670166	0.34273	D	0.880912	0.59977	D	.	.	.	.	.	.	.	.	-7.332	0.56422	T	.	.	0.329	0.55117	B	.	.	1.296456	0.16976	12.88	0.99442054032056237	0.64820	0.46543	0.27783	N	AEFDBI	0.122787	0.23810	N	-0.257393938749385	0.30808	1.721402	-0.491271942611007	0.22393	1.216053	6.92005012073932E-5	0.04366	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.95	0.756	0.17569	2.264000	0.42959	.	.	-0.761000	0.03509	0.990000	0.36992	0.209000	0.23629	0.000000	0.00833	0.0:0.0:0.6164:0.3836	8.036	0.29653	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5532.55	398	chr19	8888763	.	G	A	5532.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-8.400e-01;DP=10822;ExcessHet=2.5830;FS=10.808;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=55.93;MQRankSum=-8.753e+00;QD=1.32;ReadPosRankSum=-9.860e-01;SOR=1.809	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:510,0:510:99:.:.:0,120,1800	14	0	7	0
chr19	8888772	8888772	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.A40727G:p.H13576R,	.	.	387	1130	4	1	0	6	0.00264784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.918	P	0.884	P	.	.	.	.	2.455	M	1.54	T	-0.672	T	0.209	T	0.143	0.603	7.250	1.93	0.542	-0.004	4.795	0.027	0.01970920909	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796597641	6.847e-07	0.0003	1.363e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	0.0002	0.0067	7.429e-05	0.0002	0.0006	9.463e-05	7.746e-05	0.0001	8.311e-05	9.954e-05	0.0016	0.0004	0	0.0006	0.0001	0	8.473e-05	0.0007	0	0.399	0.10517	T	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.54	0.30133	T	-1.07	0.27876	N	0.198	0.21839	-0.6717	0.61752	T	0.209	0.56826	T	8	0.08854148	0.15256	T	0.019709	0.42141	T	0.070	0.20419	.	.	0.0846915920261	0.08053	0.10730361134637394	0.10659	.	.	0.301812142134	0.10671	T	.	.	.	-0.298934	0.08761	T	-0.667174	0.07791	T	0.0429873021479382	0.04234	T	0.289971	0.05268	T	.	.	.	.	.	.	.	.	-7.328	0.56394	T	.	.	0.079	0.07365	B	.	.	0.305711	0.06811	3.335	0.90875541208019783	0.20124	0.01928	0.05881	N	AEFDBI	0.046718	0.07789	N	-0.451024332831344	0.23705	1.274877	-0.644784429574841	0.18348	0.9797751	1.15187711553299E-4	0.05269	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.95	1.93	0.24985	-1.911000	0.01675	.	.	0.639000	0.52094	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.149:0.0:0.851	4.795	0.12637	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.125	5178.17	410	chr19	8888772	.	T	C	5178.17	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-7.350e-01;DP=11084;ExcessHet=1.1607;FS=20.381;InbreedingCoeff=-0.1507;MLEAC=5;MLEAF=0.125;MQ=55.59;MQRankSum=-8.634e+00;QD=1.74;ReadPosRankSum=0.031;SOR=2.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:533,0:533:99:.:.:0,120,1800	15	0	5	1
chr19	8888803	8888803	G	A	exonic	MUC16	.	stopgain	MUC16:NM_024690:exon56:c.C40696T:p.Q13566X,	.	.	387	1065	65	0	5	70	0.0296128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.702	14.99	1.01	0.786	-0.955	7.596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs749709179	2.751e-06	0.0003	1.368e-06	4.147e-06	2.346e-05	6.4e-07	4.3e-07	3.89e-06	1.46e-06	0	0	0	0	1.892e-05	0	9.032e-07	0	2.346e-05	0.0003	0.0078	0.0003	0.0003	0.0007	0.0003	0.0002	0.0003	0.0002	0.0004	0	0.0002	0.0003	0.0006	0.0003	0	0.0003	0.0015	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.853	0.84922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382006	0.88838	D	0.310949	0.88697	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.510432	0.97656	37	0.99651539778950882	0.77317	0.04167	0.09661	N	AEFDBI	0.050545	0.08845	N	0.108967690324694	0.46882	2.921777	-0.235756191989301	0.30265	1.702583	7.40119793528929E-5	0.04552	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.01	0.19044	-1.404000	0.02601	.	.	-0.183000	0.09960	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.0:0.5377:0.4623	7.596	0.27215	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	9208.93	410	chr19	8888803	.	G	A	9208.93	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-1.183e+00;DP=10099;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2685;MLEAC=9;MLEAF=0.214;MQ=57.32;MQRankSum=-7.194e+00;QD=2.03;ReadPosRankSum=1.87;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:501,54:555:9:.:.:9,0,19374	12	0	9	0
chr19	8888822	8888826	GCTTT	0	exonic	MUC16	.	.	.	.	.	412	698	370	1	41	413	0.210407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	23587.18	358	chr19	8888822	.	GCTTT	G,*,TCTTT	23587.18	.	AC=17,3,1;AF=0.405,0.071,0.024;AN=42;BaseQRankSum=1.15;DP=9724;ExcessHet=54.0936;FS=9.916;InbreedingCoeff=-1.0000;MLEAC=17,3,1;MLEAF=0.405,0.071,0.024;MQ=57.12;MQRankSum=-1.109e+01;QD=2.75;ReadPosRankSum=0.578;SOR=1.311	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:277,97,53,2:442:99:.:.:3522,0,11746,1777,9877,13898,4440,11821,13815,17657	0	0	17	0
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	1541.22	352	chr19	8888826	.	T	*,TCCGA	1541.22	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=2.89;DP=8436;ExcessHet=43.6797;FS=10.909;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.452,0.024;MQ=57.52;MQRankSum=-9.389e+00;QD=0.19;ReadPosRankSum=0.933;SOR=1.413	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:286,90,53:429:99:0|1:8888826_T_*:2940,0,11728,1575,9805,13425:8888826	1	0	19	0
chr19	8888875	8888875	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.G40624A:p.G13542R,	.	.	408	1101	13	0	0	13	0.00586907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	1.0	D	0.999	D	.	.	.	.	2.045	M	1.35	T	-0.626	T	0.203	T	0.345	1.414	10.66	2.41	0.793	-0.289	8.763	0.072	0.0278153874305	.	.	7.969e-05	0.0008	8.688e-05	0	0	0	0	0	3.84e-05	1	26028	rs755391254	0.0014	0.0084	0.0011	0.0016	0.0158	0.0013	0.0013	0.0146	0.0141	0.0028	0.0158	0.0063	0.0002	0.0016	0.0017	0.0006	0.0016	0.0054	6.668e-06	0.0014	1.301e-05	0	2.461e-05	0	0	.	.	2.461e-05	0	0	0	0	0	0	0	0	0	0.069	0.35537	T	0.106	0.37872	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.35	0.34648	T	-2.29	0.50992	N	0.248	0.28028	-0.6265	0.63718	T	0.203	0.56073	T	8	0.08053857	0.13082	T	0.027815	0.50582	D	0.089	0.25827	.	.	0.268660756437	0.26461	0.13708187593328022	0.13632	.	.	0.346202164888	0.17362	T	.	.	.	-0.235867	0.15880	T	-0.466525	0.25891	T	0.304147384166462	0.25175	T	0.527447	0.17405	T	.	.	.	.	.	.	.	.	-7.178	0.55323	T	.	.	0.120	0.24633	B	.	.	1.794308	0.22807	15.77	0.97789906911688207	0.35989	0.02210	0.06441	N	AEFDBI	0.042239	0.06528	N	-0.650184196310702	0.17455	0.8983332	-0.816690112373923	0.14091	0.734491	2.21458825941537E-4	0.06048	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.48	2.41	0.28644	-0.393000	0.07366	.	.	0.564000	0.28548	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.7667:0.2333:0.0	8.763	0.33846	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	229.98	212	chr19	8888875	.	C	T	229.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.30;DP=5064;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.29;MQRankSum=-1.112e+01;QD=1.46;ReadPosRankSum=-3.243e+00;SOR=0.586	GT:AD:DP:GQ:PL	0/0:232,0:232:99:0,120,1800	20	0	1	0
chr19	8888876	8888876	A	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.T40623G:p.D13541E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.974	D	0.981	D	.	.	.	.	1.87	L	0.93	T	-0.870	T	0.138	T	0.106	1.808	12.01	1.34	0.110	-2.020	5.128	0.020	0.0184576829843	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	.	5.187e-06	0.0002	1.454e-06	9.063e-06	7.562e-05	2.16e-06	1.39e-06	2.908e-05	1.903e-05	0	0	0	0	0	0	1.894e-06	0	7.562e-05	6.798e-06	0.0010	1.324e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.035	0.43708	D	0.106	0.37872	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.93	0.44065	T	-0.43	0.14390	N	0.28	0.31702	-0.8696	0.50559	T	0.138	0.45451	T	8	0.102479935	0.18784	T	0.018458	0.40531	T	0.039	0.10176	.	.	0.258283824007	0.25425	0.03204328302232783	0.03152	.	.	0.32660266757	0.14420	T	.	.	.	-0.294743	0.09164	T	-0.661154	0.08189	T	0.18441400232506	0.19509	T	0.513049	0.16451	T	.	.	.	.	.	.	.	.	-7.397	0.56883	T	.	.	0.179	0.38959	B	.	.	0.370493	0.07427	4.059	0.97250488420208558	0.33038	0.04086	0.09547	N	AEFDBI	0.058217	0.10907	N	-0.810373198274173	0.13044	0.6399203	-0.987335908183308	0.10069	0.5048391	7.79589708737315E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.48	1.34	0.21018	-1.962000	0.01605	.	.	0.710000	0.85309	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.7372:0.0:0.2628:0.0	5.128	0.14225	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1768.1	212	chr19	8888876	.	AT	A,CT	1768.1	.	AC=3,3;AF=0.071,0.071;AN=42;BaseQRankSum=4.52;DP=5111;ExcessHet=1.7912;FS=20.289;InbreedingCoeff=-0.1690;MLEAC=3,3;MLEAF=0.071,0.071;MQ=57.83;MQRankSum=-6.910e-01;QD=1.13;ReadPosRankSum=0.837;SOR=3.215	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:232,0,0:232:99:.:.:0,120,1800,120,1800,1800	15	0	3	0
chr19	8899972	8899972	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.A39013G:p.T13005A,	.	.	419	1095	8	0	0	8	0.00363967	0	0.03	3210996	MUC16-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	.	.	.	.	-1.87	N	4.67	T	-0.925	T	0.001	T	0.052	-0.720	0.909	-2.32	-0.515	0.101	2.013	0.024	0.00749902169758	.	.	1.661e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs756739393	1.369e-06	1.368e-06	1.362e-06	1.376e-06	4.472e-05	2.3e-07	9e-08	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	0	0	0	2.836e-05	0.0017	0	5.868e-05	2.66e-05	9.63e-06	5.47e-06	.	.	2.66e-05	0	0	0	0	0.0003	0	0	0	0	0.845	0.02774	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	4.67	0.01735	T	1.1	0.01229	N	0.045	0.01740	-0.9255	0.44786	T	0.001	0.00467	T	7	0.021653622	0.00522	T	0.007499	0.19899	T	0.024	0.04979	0.153	0.05648	0.0138822411134	0.00435	0.07225205961657089	0.07162	.	.	0.242049396038	0.02977	T	.	.	.	-0.549186	0.00295	T	-0.829673	0.01268	T	0.0531765688373252	0.06049	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-6.763	0.52283	T	.	.	0.059	0.00834	B	.	.	0.265119	0.06434	2.903	0.15376159983054832	0.00374	0.00009	0.00143	N	AEFBI	0.015378	0.00290	N	-2.18627876915683	0.00082	0.003520834	-2.16957185045865	0.00131	0.005755971	1.89267803303865E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-0.073000	0.11428	.	.	-2.696000	0.00211	0.011000	0.18532	0.000000	0.08366	0.000000	0.00833	0.2938:0.4676:0.0:0.2386	2.013	0.03280	940	0.13648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	487.16	47	chr19	8899972	.	T	C	487.16	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.437e+00;DP=1756;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0519;MLEAC=2;MLEAF=0.048;MQ=59.19;MQRankSum=-1.505e+01;QD=1.02;ReadPosRankSum=0.366;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1282	19	0	2	0
chr19	8899974	8899974	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.C39011T:p.T13004I,	.	.	419	1095	8	0	0	8	0.00363967	0.0414	0.372	3214956	MUC16-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.997	D	0.958	D	.	.	.	.	1.735	L	4.43	T	-1.031	T	0.017	T	0.282	-0.196	3.049	1.16	0.926	0.085	5.678	0.045	0.00118460416831	.	.	2.492e-05	0	8.709e-05	0	0	3.003e-05	0	0	1.94e-05	3	154602	rs778952678	8.896e-06	8.893e-06	9.532e-06	8.253e-06	0.0002	4.96e-06	3.83e-06	4.55e-06	3.32e-06	0	0	0	0	0	0.0002	8.996e-06	1.657e-05	1.16e-05	2.122e-05	0.0017	0	4.395e-05	2.653e-05	5.64e-06	2.57e-06	.	.	2.653e-05	0	0	0	0	0.0002	0	0	0	0	0.011	0.55530	D	0.061	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.43	0.02158	T	-2.06	0.47175	N	0.174	0.18649	-1.0313	0.20034	T	0.017	0.07187	T	8	0.12934974	0.24610	T	0.001185	0.01509	T	0.045	0.12272	.	.	0.128392430309	0.12331	0.11902561227878314	0.11829	.	.	0.318150579929	0.13140	T	.	.	.	-0.323778	0.06593	T	-0.57241	0.15230	T	0.219254165887833	0.21427	T	0.221278	0.02853	T	.	.	.	.	.	.	.	.	-7.441	0.57194	T	.	.	0.144	0.31608	B	.	.	1.710829	0.21783	15.35	0.21896655339985072	0.00856	0.01505	0.04982	N	AEFBI	0.034770	0.04364	N	-0.324931602343095	0.28204	1.553715	-0.621172338705613	0.18950	1.014588	1.81590448166244E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	1.16	0.19936	0.426000	0.21081	.	.	0.526000	0.24426	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	5.678	0.17030	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	521.68	47	chr19	8899974	.	G	A	521.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.328e+00;DP=1769;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0767;MLEAC=3;MLEAF=0.071;MQ=59.20;MQRankSum=-1.467e+01;QD=0.73;ReadPosRankSum=0.784;SOR=0.630	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1282	18	0	3	0
chr19	8899979	8899979	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.C39006A:p.S13002R,	.	.	420	1090	12	0	0	12	0.00547445	.	.	3192352	MUC16-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.991	D	0.934	D	.	.	.	.	1.525	L	4.6	T	-1.014	T	0.015	T	0.291	-0.237	2.857	1.16	0.926	-0.777	5.678	0.047	0.00102388544923	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1337261124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.848e-05	0.0019	0	5.902e-05	2.675e-05	9.65e-06	5.49e-06	.	.	2.675e-05	0	0	0	0	0.0003	0	0	0	0	0.005	0.63226	D	0.061	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.6	0.01868	T	-1.27	0.31981	N	0.225	0.25253	-1.0136	0.25784	T	0.015	0.06282	T	8	0.15770155	0.29672	T	0.001024	0.01120	T	0.047	0.12962	0.143	0.04650	0.0920862733494	0.08535	0.15085560951934324	0.15007	.	.	0.265822708607	0.05603	T	.	.	.	-0.261119	0.12768	T	-0.612856	0.11755	T	0.168099865317345	0.18450	T	0.177782	0.01744	T	.	.	.	.	.	.	.	.	-7.626	0.58492	D	.	.	0.224	0.45544	B	.	.	0.282384	0.06594	3.083	0.44924595648877924	0.03489	0.01381	0.04703	N	AEFBI	0.028519	0.02526	N	-0.385439741200818	0.25987	1.414868	-0.673385610186316	0.17627	0.9381749	1.81590448166244E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	1.16	0.19936	-0.802000	0.04651	.	.	-0.928000	0.02159	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:1.0:0.0	5.678	0.17030	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	574.68	47	chr19	8899979	.	G	T	574.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.200e+00;DP=2070;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=59.21;MQRankSum=-1.427e+01;QD=0.79;ReadPosRankSum=0.704;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:269,0:269:95:.:.:0,95,6786	18	0	3	0
chr19	8900001	8900001	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38984A:p.G12995E,	.	.	417	1065	39	1	0	41	0.0188853	.	.	3221801	MUC16-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.982	D	0.455	P	.	.	.	.	0.85	L	4.58	T	-0.922	T	0.007	T	0.152	-0.449	1.920	0.009	-0.043	-3.145	3.969	0.054	0.00120842336054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796151917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.886e-05	0.0031	1.417e-05	0.0001	0.0002	2.927e-05	2.125e-05	3.799e-05	2.25e-05	0.0001	0	0	0	0	0.0004	0	0	0	0.0002	0.091	0.31834	T	0.064	0.44905	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.58	0.01901	T	-0.88	0.23808	N	0.103	0.08646	-0.9217	0.45320	T	0.007	0.02282	T	8	0.11394003	0.21421	T	0.001208	0.01583	T	0.054	0.15330	0.142	0.04556	0.101711395817	0.09552	0.1462809682678735	0.14550	.	.	0.19396597147	0.00303	T	.	.	.	-0.32769	0.06288	T	-0.708481	0.05374	T	0.163903206586838	0.18155	T	0.165083	0.01523	T	.	.	.	.	.	.	.	.	-6.443	0.49844	T	.	.	0.084	0.09868	B	.	.	-0.242325	0.02882	0.411	0.27013934638062309	0.01321	0.00389	0.01958	N	AEFBI	0.035362	0.04537	N	-0.780672500721295	0.13814	0.6832987	-1.02483553794802	0.09240	0.4585958	8.79614165805569E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	0.00923	0.13400	-2.573000	0.00987	.	.	-0.349000	0.05595	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.4308:0.0:0.0	3.969	0.08937	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	1154.03	47	chr19	8900001	.	C	T	1154.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-1.290e-01;DP=2853;ExcessHet=1.7912;FS=1.022;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=59.31;MQRankSum=-1.443e+01;QD=0.76;ReadPosRankSum=1.80;SOR=0.913	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:287,0:287:47:.:.:0,47,6991	15	0	6	0
chr19	8900017	8900017	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38968C:p.D12990H,	.	.	419	985	117	1	0	119	0.0569651	.	.	3206446	MUC16-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.289	B	0.104	B	.	.	.	.	0.85	L	4.62	T	-0.937	T	0.005	T	0.187	-0.708	0.946	-2.32	-0.921	-3.230	2.997	0.059	0.000862686160426	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796074138	0	8.209e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	5.687e-05	0.0074	4.13e-05	7.351e-05	7.994e-05	2.742e-05	2.063e-05	2.119e-05	1.087e-05	7.994e-05	0	0	0	0	0.0003	0	3.068e-05	0	0	0.039	0.42487	D	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	0.49	0.02993	N	0.092	0.07125	-0.9370	0.43088	T	0.005	0.01506	T	8	0.0807575	0.13143	T	8.63E-4	0.00755	T	0.059	0.16972	0.123	0.02942	0.0401082797425	0.02173	0.1591635644427814	0.15837	.	.	0.225260436535	0.01636	T	.	.	.	-0.333606	0.05843	T	-0.716979	0.04943	T	0.120735882775226	0.14502	T	0.155884	0.01367	T	.	.	.	.	.	.	.	.	-5.876	0.45230	T	.	.	0.121	0.25199	B	.	.	-0.654509	0.01430	0.085	0.20142462625377641	0.00711	0.00266	0.01451	N	AEFBI	0.033829	0.04085	N	-1.20853826975404	0.04874	0.2209404	-1.39093098480509	0.03348	0.1559778	2.77626904626202E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-4.258000	0.00301	.	.	-2.147000	0.00375	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3314:0.4146:0.254:0.0	2.997	0.05636	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3095	2350.15	47	chr19	8900017	.	C	G	2350.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.351;DP=3884;ExcessHet=11.8493;FS=0.993;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=59.12;MQRankSum=-1.468e+01;QD=0.70;ReadPosRankSum=1.95;SOR=1.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:258,27:285:99:0|1:8900009_C_T:357,0,10738:8900009	8	0	13	0
chr19	8906310	8906310	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.G38009C:p.S12670T,	.	YES	426	1063	32	1	0	34	0.0157407	.	.	2752290	Ovarian_cancer	MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	.	.	-1.7	N	4.57	T	-0.910	T	0.002	T	0.051	-0.075	3.636	-1.23	-0.748	-0.381	0.617	0.053	0.00246779091888	.	0.000199681	1.681e-05	0.0001	8.66e-05	0	0	0	0	0	3.84e-05	1	26028	rs565425582	1.644e-05	2.941e-05	1.772e-05	1.514e-05	2.52e-05	1.112e-05	9.34e-06	1.296e-05	1.107e-05	0	2.242e-05	0	2.52e-05	0	0	1.98e-05	0	0	4.176e-05	0.0026	5.432e-05	2.855e-05	0.0001	1.799e-05	1.184e-05	3.51e-05	2.123e-05	0.0001	0	0	0	0	0	0	3.066e-05	0	0	1.0	0.00964	T	0.139	0.33666	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.57	0.01917	T	1.25	0.01011	N	0.113	0.10056	-0.9100	0.46854	T	0.002	0.00676	T	8	0.033523023	0.01532	T	0.002468	0.04896	T	0.053	0.14996	0.176	0.08257	0.0297737177859	0.01360	0.07544984530033015	0.07480	.	.	0.284053891897	0.08063	T	.	.	.	-0.547718	0.00301	T	-0.842388	0.01063	T	0.0276999553474265	0.01645	T	0.143886	0.01170	T	.	.	.	.	.	.	.	.	-0.597	0.00646	T	.	.	0.062	0.01215	B	.	.	0.261277	0.06395	2.864	0.32924370785203677	0.01934	0.00006	0.00120	N	AEFBI	0.008428	0.00039	N	-1.59481043750724	0.01290	0.05618882	-1.61343246278626	0.01576	0.07143936	1.53118084225164E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-1.23	0.08977	-0.346000	0.07809	.	.	-1.191000	0.01374	0.001000	0.13787	0.000000	0.08366	0.091000	0.17840	0.1779:0.2378:0.3437:0.2407	0.617	0.00722	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02778	379.11	110	chr19	8906310	.	C	G	379.11	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-9.420e-01;DP=1797;ExcessHet=0.0000;FS=12.219;InbreedingCoeff=-0.0646;MLEAC=1;MLEAF=0.028;MQ=58.80;MQRankSum=-1.042e+01;QD=2.73;ReadPosRankSum=-1.122e+00;SOR=0.926	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:121,0:121:99:.:.:0,120,1800	17	0	1	3
chr19	8906323	8906323	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.C37996T:p.P12666S,	.	.	428	1055	38	1	0	40	0.0186047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	.	.	-2.085	N	4.52	T	-0.923	T	0.002	T	0.054	-0.265	2.727	0.419	-0.350	0.140	4.268	0.027	0.00247585488613	.	.	1.687e-05	0.0001	8.658e-05	0	0	0	0	0	1.29e-05	2	154602	rs762490369	1.713e-05	5.336e-05	1.772e-05	1.653e-05	2.52e-05	1.176e-05	9.94e-06	1.379e-05	1.152e-05	0	2.245e-05	0	2.52e-05	0	0	2.071e-05	0	0	4.24e-05	0.0059	4.138e-05	4.346e-05	0.0001	1.822e-05	1.199e-05	3.556e-05	2.154e-05	0.0001	0	0	0	0	0	0	3.104e-05	0	0	0.261	0.16520	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.52	0.01997	T	0.2	0.04861	N	0.092	0.07125	-0.9233	0.45098	T	0.002	0.00676	T	8	0.057982862	0.06746	T	0.002476	0.04896	T	0.027	0.05988	0.184	0.09259	0.0297737177859	0.01360	0.08237352206848209	0.08172	.	.	0.263990014791	0.05375	T	.	.	.	-0.536376	0.00352	T	-0.839115	0.01112	T	0.0242580187876096	0.01178	T	0.180682	0.01803	T	.	.	.	.	.	.	.	.	0.883	0.00148	T	.	.	0.076	0.06069	B	.	.	0.362648	0.07355	3.971	0.31856550423288121	0.01817	0.00006	0.00120	N	AEFBI	0.009687	0.00059	N	-1.5920726816332	0.01304	0.05680634	-1.57521878403105	0.01808	0.08232029	9.67824463248396E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	0.419	0.15657	-0.191000	0.09598	.	.	-0.953000	0.02023	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.562:0.0:0.438:0.0	4.268	0.10218	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07895	430.29	122	chr19	8906323	.	G	A	430.29	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-5.900e-01;DP=2031;ExcessHet=0.3300;FS=7.018;InbreedingCoeff=-0.1136;MLEAC=3;MLEAF=0.079;MQ=58.84;MQRankSum=-1.098e+01;QD=1.07;ReadPosRankSum=-7.140e-01;SOR=1.041	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:140,0:140:99:.:.:0,120,1800	16	0	3	2
chr19	8906325	8906325	A	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.T37994G:p.I12665S,	.	.	429	1045	47	1	0	49	0.0229079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	.	.	-1.905	N	4.5	T	-0.830	T	0.002	T	0.097	-1.387	0.024	-2.96	-3.727	-5.812	7.234	0.018	0.0038760848155	.	.	.	.	.	.	.	.	.	.	.	.	.	rs759086518	0	3.625e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.251e-05	0.0063	4.15e-05	4.357e-05	0.0002	1.826e-05	1.202e-05	3.56e-05	2.156e-05	0.0001	0	0	0	0.0002	0	0	1.556e-05	0	0	0.826	0.02913	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	0.44	0.03243	N	0.074	0.04790	-0.8304	0.53276	T	0.002	0.00738	T	8	0.04098645	0.02714	T	0.003876	0.09086	T	0.018	0.03083	0.31	0.28289	0.170165803431	0.16609	0.11517879774076815	0.11445	.	.	0.232001110911	0.02120	T	.	.	.	-0.408333	0.02040	T	-0.824318	0.01367	T	0.0416706942861189	0.03995	T	0.152385	0.01298	T	.	.	.	.	.	.	.	.	0.068	0.00326	T	.	.	0.085	0.10400	B	.	.	-0.401111	0.02208	0.221	0.45356006519564063	0.03554	0.00037	0.00318	N	AEFBI	0.009398	0.00054	N	-2.70207499388071	0.00005	0.0002332206	-2.71802947991178	0.00007	0.000320448	0.0912899574800445	0.16130	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-2.96	0.05212	-5.644000	0.00129	.	.	-4.429000	0.00030	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1528:0.3792:0.4679:0.0	7.234	0.25234	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.08333	422.15	125	chr19	8906325	.	A	C	422.15	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-6.810e-01;DP=2100;ExcessHet=0.3300;FS=5.370;InbreedingCoeff=-0.1238;MLEAC=3;MLEAF=0.083;MQ=58.89;MQRankSum=-1.169e+01;QD=1.04;ReadPosRankSum=-7.480e-01;SOR=1.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:140,0:140:99:.:.:0,120,1800	15	0	3	3
chr19	8906329	8906329	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.T37990C:p.W12664R,	.	.	426	1037	58	1	0	60	0.0281162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	.	.	-1.2	N	1.56	T	-1.012	T	0.021	T	0.117	-0.969	0.308	-2.96	-2.363	-1.255	4.013	0.022	0.00123485330843	.	.	1.69e-05	0.0001	8.66e-05	0	0	0	0	0	3.84e-05	1	26028	rs752664873	1.713e-05	7.251e-05	1.909e-05	1.516e-05	2.52e-05	1.176e-05	9.94e-06	1.379e-05	1.152e-05	0	2.246e-05	0	2.52e-05	0	0	2.071e-05	0	0	9.122e-05	0.0074	9.589e-05	8.632e-05	0.0002	5.38e-05	4.211e-05	6.784e-05	4.563e-05	0.0002	0	0	0	0.0002	0.0001	0	7.725e-05	0	0	1.0	0.00964	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.56	0.29602	T	1.73	0.00557	N	0.164	0.17278	-1.0123	0.26196	T	0.021	0.08917	T	8	0.05845517	0.06874	T	0.001235	0.01633	T	0.022	0.04323	0.511	0.60846	0.0666544352282	0.05500	0.12290162140986033	0.12216	.	.	0.17153711617	0.00038	T	.	.	.	-0.364945	0.03858	T	-0.761995	0.03041	T	0.0350373052446737	0.02814	T	0.0657934	0.00479	T	.	.	.	.	.	.	.	.	0.629	0.00188	T	.	.	0.081	0.08417	B	.	.	0.120328	0.05179	1.696	0.50828146212189185	0.04453	0.00012	0.00170	N	AEFBI	0.011720	0.00110	N	-2.20480432650005	0.00075	0.003199722	-2.24327977203405	0.00089	0.003930338	8.9415780060643E-4	0.07974	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-2.96	0.05212	-1.082000	0.03510	.	.	-6.395000	0.00004	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5741:0.0:0.2467:0.1792	4.013	0.09120	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1053	676.79	128	chr19	8906329	.	A	G	676.79	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.217e+00;DP=2113;ExcessHet=0.6776;FS=9.405;InbreedingCoeff=-0.1354;MLEAC=4;MLEAF=0.105;MQ=58.89;MQRankSum=-1.215e+01;QD=1.15;ReadPosRankSum=-1.056e+00;SOR=1.361	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:140,9:149:44:0|1:8906315_G_T:0,44,5895:8906315	15	0	4	2
chr19	8908599	8908599	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.A37612G:p.T12538A,	.	.	429	1090	3	0	0	3	0.00137426	0	0.03	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	.	.	.	.	-0.685	N	1.69	T	-0.958	T	0.019	T	0.054	-0.078	3.620	-1.03	0.049	0.084	4.299	0.016	0.00112796486292	.	.	.	.	.	.	.	.	.	.	0.00073	19	26028	rs1292275692	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.331e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.257	0.16738	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.69	0.27032	T	-0.45	0.14782	N	0.116	0.10483	-0.9581	0.39534	T	0.019	0.07753	T	7	0.071532875	0.10556	T	0.001128	0.01385	T	0.016	0.02506	0.249	0.18602	0.0297737177859	0.01360	0.08480375160435995	0.08414	.	.	0.244860142469	0.03246	T	.	.	.	-0.374715	0.03362	T	-0.776029	0.02575	T	0.0510332249104977	0.05680	T	0.138886	0.01109	T	.	.	.	.	.	.	.	.	-5.524	0.42092	T	.	.	0.069	0.02993	B	.	.	0.253012	0.06321	2.781	0.42206208933571693	0.03095	0.00009	0.00143	N	AEFBI	0.011238	0.00095	N	-1.58080858776645	0.01363	0.05940262	-1.61877208500018	0.01545	0.07001183	9.87328335879298E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-1.03	0.09586	0.325000	0.19374	.	.	-0.528000	0.04966	0.025000	0.20085	0.000000	0.08366	0.002000	0.04165	0.0:0.7516:0.0:0.2484	4.299	0.10357	934	0.15400	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	207.3	203	chr19	8908599	.	T	C	207.3	.	AC=1;AF=0.028;AN=36;BaseQRankSum=3.18;DP=2977;ExcessHet=0.0000;FS=73.771;InbreedingCoeff=-0.0742;MLEAC=1;MLEAF=0.028;MQ=59.18;MQRankSum=-7.598e+00;QD=1.15;ReadPosRankSum=1.34;SOR=6.588	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1331	17	0	1	3
chr19	8908602	8908602	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37609A:p.A12537T,	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	.	.	0	N	1.39	T	-1.043	T	0.040	T	0.032	0.559	7.025	1.42	0.029	-0.125	3.410	0.025	0.00131490758785	.	.	4.182e-05	0.0001	0	0.0001	0	1.508e-05	0	0.0001	0.0001552	24	154602	rs138748436	4.107e-05	4.104e-05	3.95e-05	4.266e-05	0.0004	3.247e-05	2.921e-05	0.0003	0.0002	0.0004	0	0	0.0001	0	0.0002	3.24e-05	3.316e-05	2.32e-05	0.0001	0.0001	0.0002	5.568e-05	0.0003	7.282e-05	6.004e-05	0.0002	0.0002	0.0003	0	6.974e-05	0	0	0	0	4.448e-05	0	0	0.545	0.06691	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.39	0.33842	T	0.37	0.03639	N	0.078	0.05287	-1.0434	0.16294	T	0.040	0.17404	T	8	0.03682396	0.02000	T	0.001315	0.01834	T	0.025	0.05312	.	.	0.0297737177859	0.01360	0.061949370351122544	0.06134	.	.	0.279441058636	0.07415	T	.	.	.	-0.624425	0.00103	T	-0.804718	0.01787	T	0.00817964850258335	0.00098	T	0.242476	0.03503	T	.	.	.	.	.	.	.	.	1.346	0.00095	T	.	.	0.065	0.01834	B	.	.	0.570840	0.09394	6.173	0.33756429216317418	0.02028	0.00011	0.00159	N	AEFBI	0.008518	0.00040	N	-1.36706097997437	0.02952	0.131134	-1.41654224597646	0.03086	0.1432886	1.09906045987142E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	0.018000	0.13315	.	.	-0.524000	0.04973	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.0:0.238:0.0:0.762	3.410	0.06930	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.03125	199.63	201	chr19	8908602	.	C	T	199.63	.	AC=1;AF=0.031;AN=32;BaseQRankSum=5.36;DP=2980;ExcessHet=0.0000;FS=74.043;InbreedingCoeff=-0.1147;MLEAC=1;MLEAF=0.031;MQ=59.18;MQRankSum=-7.546e+00;QD=1.08;ReadPosRankSum=1.78;SOR=6.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1331	15	0	1	5
chr19	8908604	8908604	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.C37607A:p.P12536H,	.	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.815	P	.	.	.	.	2.39	M	4.57	T	-1.063	T	0.019	T	0.196	-0.065	3.685	1.42	1.067	1.439	6.239	0.052	0.00113280189862	.	.	.	.	.	.	.	.	.	.	.	.	.	rs893065310	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.64e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.009	0.57480	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.57	0.01917	T	-1.42	0.34992	N	0.247	0.27910	-1.0628	0.11069	T	0.019	0.07846	T	8	0.14153516	0.26892	T	0.001133	0.01385	T	0.052	0.14661	0.277	0.23004	0.132336055621	0.12781	0.14758051324810698	0.14680	.	.	0.238620921969	0.02667	T	.	.	.	-0.253738	0.13642	T	-0.602254	0.12622	T	0.173418819904327	0.18810	T	0.154585	0.01346	T	.	.	.	.	.	.	.	.	-9.732	0.72291	D	.	.	0.113	0.22391	B	.	.	1.099813	0.14844	11.37	0.28530878413675936	0.01469	0.04269	0.09804	N	AEFBI	0.025387	0.01729	N	-0.227180045193329	0.32022	1.801572	-0.531142575380632	0.21310	1.152163	2.41537016268443E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	1.286000	0.32877	.	.	0.360000	0.20082	0.003000	0.16062	0.008000	0.19753	0.008000	0.08271	0.0:0.0:1.0:0.0	6.239	0.19989	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.03125	166.11	203	chr19	8908604	.	G	T	166.11	.	AC=1;AF=0.031;AN=32;BaseQRankSum=3.50;DP=2979;ExcessHet=0.0000;FS=71.206;InbreedingCoeff=-0.0979;MLEAC=1;MLEAF=0.031;MQ=59.24;MQRankSum=-7.572e+00;QD=0.92;ReadPosRankSum=2.03;SOR=6.528	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1331	15	0	1	5
chr19	8908608	8908608	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.A37603G:p.S12535G,	.	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.039	B	0.021	B	.	.	.	.	0.97	L	4.44	T	-0.964	T	0.006	T	0.086	-0.244	2.823	-0.938	-0.401	1.012	4.293	0.017	0.00136832620583	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1187553949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.33e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.323	0.13436	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.44	0.02139	T	-0.63	0.18459	N	0.212	0.23632	-0.9637	0.38468	T	0.006	0.02093	T	8	0.0662958	0.09070	T	0.001368	0.01986	T	0.017	0.02790	0.197	0.10975	0.0138822411134	0.00435	0.09901883307393754	0.09832	.	.	0.25038677454	0.03808	T	.	.	.	-0.353296	0.04524	T	-0.745261	0.03674	T	0.0603211808221808	0.07220	T	0.141186	0.01138	T	.	.	.	.	.	.	.	.	-9.901	0.73316	D	.	.	0.102	0.18037	B	.	.	1.349386	0.17571	13.24	0.28242686615049478	0.01441	0.00851	0.03397	N	AEFBI	0.024256	0.01472	N	-1.2564370111732	0.04215	0.1898217	-1.37586353734191	0.03511	0.163921	1.07308552085878E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-0.938	0.09882	0.886000	0.27878	.	.	0.353000	0.19991	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.0:0.4508:0.0:0.5492	4.293	0.10335	934	0.15400	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	167.88	204	chr19	8908608	.	T	C	167.88	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.91;DP=2992;ExcessHet=0.0000;FS=70.474;InbreedingCoeff=-0.0600;MLEAC=1;MLEAF=0.026;MQ=59.24;MQRankSum=-7.572e+00;QD=0.94;ReadPosRankSum=2.32;SOR=6.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1331	18	0	1	2
chr19	8908619	8908619	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.T37592C:p.F12531S,	.	.	425	1082	15	0	0	15	0.00688389	.	.	3192351	MUC16-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	.	.	-2.3	N	4.61	T	-0.896	T	0.002	T	0.109	-0.128	3.374	-2.46	-0.725	-0.002	5.188	0.019	0.00202408868933	8.3e-05	.	8.342e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs377069963	3.422e-06	3.42e-06	1.362e-06	5.503e-06	3.598e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	1.658e-05	0	1.352e-05	0.0001	1.315e-05	1.391e-05	2.978e-05	2.25e-06	8.4e-07	4.94e-06	1.85e-06	0	0	0	0	0	0	0	2.978e-05	0	0	0.067	0.35918	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.61	0.01851	T	-0.17	0.09627	N	0.101	0.08366	-0.8956	0.48427	T	0.002	0.00615	T	8	0.04995814	0.04658	T	0.002024	0.03668	T	0.019	0.03383	.	.	0.146414634003	0.14194	0.14281700225897295	0.14204	.	.	0.216673746705	0.01127	T	.	.	.	-0.366936	0.03752	T	-0.764855	0.02941	T	0.0528477553212313	0.05994	T	0.0760924	0.00560	T	.	.	.	.	.	.	.	.	2.702	0.00027	T	.	.	0.052	0.00225	B	.	.	0.670042	0.10384	7.110	0.39831540764915757	0.02773	0.00011	0.00159	N	AEFBI	0.011428	0.00101	N	-1.71979816171027	0.00774	0.03342962	-1.72525038677741	0.01030	0.04621079	2.48205843339707E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.46	0.06089	-0.340000	0.07868	.	.	-0.516000	0.04988	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.6127:0.0:0.3873:0.0	5.188	0.14517	934	0.15400	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04545	95.89	215	chr19	8908619	.	A	G	95.89	.	AC=1;AF=0.045;AN=22;BaseQRankSum=0.332;DP=3441;ExcessHet=0.0000;FS=44.745;InbreedingCoeff=-0.1668;MLEAC=2;MLEAF=0.091;MQ=57.82;MQRankSum=-8.055e+00;QD=0.52;ReadPosRankSum=1.80;SOR=5.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1331	10	0	1	10
chr19	8908637	8908637	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37574C:p.G12525A,	.	.	425	921	175	1	0	177	0.0876672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.982	D	.	.	.	.	1.825	L	4.5	T	-1.049	T	0.019	T	0.119	0.149	4.800	1.42	1.067	0.380	6.239	0.092	0.00100971464853	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796118737	0	1.984e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.704e-06	0.0012	0	1.379e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.069	0.35537	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	-1.0	0.26422	N	0.149	0.15187	-1.0489	0.14705	T	0.019	0.07893	T	8	0.14229593	0.27028	T	0.00101	0.01096	T	0.092	0.26621	0.068	0.00352	0.0920862733494	0.08535	0.09297556608109382	0.09229	.	.	0.207300364971	0.00702	T	.	.	.	-0.324618	0.06526	T	-0.704068	0.05606	T	0.128357648849487	0.15229	T	0.250075	0.03765	T	.	.	.	.	.	.	.	.	-9.338	0.69846	D	.	.	0.128	0.27222	B	.	.	0.716944	0.10859	7.536	0.51191884600897364	0.04518	0.02560	0.07095	N	AEFBI	0.024210	0.01462	N	-0.258816728321443	0.30752	1.717725	-0.553394696242798	0.20716	1.117387	2.41537016268443E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.166000	0.09943	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:1.0:0.0:0.0	6.239	0.19989	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	1286.53	209	chr19	8908637	.	C	G	1286.53	.	AC=6;AF=0.167;AN=36;BaseQRankSum=2.54;DP=3325;ExcessHet=1.7912;FS=9.333;InbreedingCoeff=-0.2165;MLEAC=7;MLEAF=0.194;MQ=58.51;MQRankSum=-1.077e+01;QD=1.08;ReadPosRankSum=0.914;SOR=1.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1331	12	0	6	3
chr19	8908644	8908644	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37567C:p.D12523H,	.	.	422	906	191	3	0	197	0.0980587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.553	P	0.146	B	.	.	.	.	1.115	L	4.53	T	-0.965	T	0.005	T	0.122	-0.518	1.634	-2.84	-0.932	-2.451	2.526	0.015	0.00120507919294	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796881038	6.844e-07	2.805e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.682e-06	0.0013	0	1.372e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.555	0.06482	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.53	0.01980	T	-0.67	0.19297	N	0.127	0.12055	-0.9652	0.38171	T	0.005	0.01833	T	8	0.059954166	0.07290	T	0.001205	0.01558	T	0.015	0.02232	.	.	0.0401082797425	0.02173	0.17377359918076668	0.17297	.	.	0.218874275684	0.01246	T	.	.	.	-0.367293	0.03734	T	-0.765368	0.02923	T	0.0819785980810491	0.10239	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-8.635	0.65320	D	.	.	0.155	0.34383	B	.	.	-0.155485	0.03325	0.581	0.2311562001233356	0.00962	0.00236	0.01316	N	AEFBI	0.021935	0.01036	N	-1.22951270346983	0.04577	0.2068566	-1.43744946049098	0.02886	0.1335886	3.83668398290725E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.84	0.05408	-3.238000	0.00603	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.4784:0.3304:0.0:0.1912	2.526	0.04405	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1579	1251.42	202	chr19	8908644	.	C	G	1251.42	.	AC=6;AF=0.158;AN=38;BaseQRankSum=2.54;DP=3367;ExcessHet=1.7912;FS=9.055;InbreedingCoeff=-0.2014;MLEAC=6;MLEAF=0.158;MQ=58.24;MQRankSum=-1.070e+01;QD=1.05;ReadPosRankSum=1.39;SOR=1.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1331	13	0	6	2
chr19	8913794	8913794	-	TGGTATG	exonic	MUC16	.	frameshift insertion	MUC16:NM_024690:exon17:c.37062_37063insCATACCA:p.T12355Hfs*96,	.	.	418	1097	7	0	0	7	0.00318037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs1408023747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	106.94	72	chr19	8913794	.	T	TTGGTATG	106.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.507;DP=2065;ExcessHet=0.0000;FS=0.863;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.47;MQRankSum=-1.013e+01;QD=0.69;ReadPosRankSum=0.629;SOR=0.857	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:69,0:69:99:.:.:0,101,1800	20	0	1	0
chr19	8913797	8913803	ACACAGA	-	exonic	MUC16	.	frameshift deletion	MUC16:NM_024690:exon17:c.37054_37060del:p.S12352Pfs*89,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs1327054083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	82.94	72	chr19	8913796	.	GACACAGA	G	82.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.300e-02;DP=2071;ExcessHet=0.0000;FS=1.114;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.23;MQRankSum=-1.107e+01;QD=0.51;ReadPosRankSum=1.11;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:69,0:69:99:.:.:0,101,1800	20	0	1	0
chr19	8913808	8913808	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon17:c.A37049G:p.Q12350R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	.	.	-0.49	N	4.58	T	-0.902	T	0.004	T	0.07	-0.396	2.144	-5.35	-2.051	-1.948	9.540	0.029	0.00242608576165	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs759620819	4.789e-06	5.472e-06	4.084e-06	5.502e-06	2.236e-05	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	2.236e-05	0	0	0	0	5.397e-06	0	0	0	1.314e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.132	0.26519	T	0.057	0.46406	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.58	0.01901	T	0.33	0.03889	N	0.086	0.06322	-0.9020	0.47782	T	0.004	0.01226	T	8	0.039474815	0.02440	T	0.002426	0.04757	T	0.029	0.06676	0.199	0.11247	0.0138822411134	0.00435	0.12891028179309774	0.12816	.	.	0.163704261184	0.00015	T	.	.	.	-0.461877	0.00957	T	-0.818366	0.01486	T	0.101391582637809	0.12509	T	0.0669933	0.00488	T	.	.	.	.	.	.	.	.	-0.541	0.00609	T	.	.	0.059	0.00793	B	.	.	-0.294309	0.02643	0.335	0.15538801178461156	0.00384	0.00338	0.01756	N	AEFBI	0.021699	0.00995	N	-2.14677206213676	0.00101	0.004315622	-2.20892277407453	0.00107	0.004697573	0.00161392486598595	0.08707	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.68	-5.35	0.02488	-1.054000	0.03607	.	.	-1.475000	0.01066	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.489:0.0:0.511	9.540	0.38411	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	130.98	72	chr19	8913808	.	T	C	130.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.480e-01;DP=2233;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.47;MQRankSum=-7.708e+00;QD=0.81;ReadPosRankSum=0.334;SOR=0.750	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:69,0:69:99:.:.:0,101,1800	20	0	1	0
chr19	8913809	8913809	G	A	exonic	MUC16	.	stopgain	MUC16:NM_024690:exon17:c.C37048T:p.Q12350X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	55.824	61	-4.17	-0.423	0.044	0.906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1343794696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.647	0.65844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299787	0.82950	D	0.192847	0.82730	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	Low	9.825524	0.99351	43	0.91393941691125624	0.20660	0.01948	0.05923	N	AEFBI	0.019628	0.00699	N	-0.0950171539886091	0.37610	2.190638	-0.572942064464123	0.20199	1.087212	7.90230937884117E-5	0.04552	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.68	-4.17	0.03595	0.024000	0.13447	.	.	-0.392000	0.05338	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1432:0.1948:0.2692:0.3929	0.906	0.01203	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	127.98	72	chr19	8913809	.	G	A	127.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.970e-01;DP=2246;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.61;MQRankSum=-1.075e+01;QD=0.79;ReadPosRankSum=0.376;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:69,0:69:99:.:.:0,101,1800	20	0	1	0
chr19	8917566	8917566	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon11:c.A36550G:p.N12184D,	.	.	431	1057	34	0	0	34	0.0158287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.013	B	0.007	B	.	.	.	.	-1.085	N	2.06	T	-0.978	T	0.016	T	0.086	-0.256	2.768	-4.26	-0.921	-2.715	8.417	0.029	0.00193798574319	.	.	4.976e-05	0.0001	8.645e-05	0	0	6.004e-05	0	0	3.84e-05	1	26028	rs199790313	3.464e-06	0.0014	1.379e-06	5.569e-06	5.821e-05	1.02e-06	7.4e-07	2.201e-05	1.435e-05	0	0	0	0	0	0	0	0	5.821e-05	0.0006	0.0098	0.0004	0.0008	0.0009	0.0005	0.0004	0.0006	0.0005	0.0008	0.0029	0.0008	0	0	0.0012	0	0.0003	0	0.0009	0.139	0.25768	T	0.11	0.37310	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.06	0.20523	T	-2.08	0.47514	N	0.105	0.08925	-0.9776	0.35548	T	0.016	0.06711	T	8	0.030176371	0.01144	T	0.001938	0.03456	T	0.029	0.06676	.	.	0.0401082797425	0.02173	0.10613363802940573	0.10543	.	.	0.298253029585	0.10141	T	.	.	.	-0.370209	0.03583	T	-0.769556	0.02782	T	0.0492777268444781	0.05374	T	0.0440956	0.00310	T	.	.	.	.	.	.	.	.	-6.438	0.49806	T	.	.	0.089	0.12181	B	.	.	-0.069432	0.03828	0.818	0.33870174248800455	0.02041	0.00318	0.01673	N	AEFDBI	0.021842	0.01021	N	-1.60041054993729	0.01262	0.05493047	-1.63340953564936	0.01464	0.06622554	1.04807821186581E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.66	-4.26	0.03497	-3.333000	0.00563	.	.	-0.274000	0.06627	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.2653:0.0:0.7347	8.417	0.31836	934	0.15400	SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	39.33	78	chr19	8917566	.	T	C	39.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.07;DP=1769;ExcessHet=0.0000;FS=13.707;InbreedingCoeff=-0.0371;MLEAC=1;MLEAF=0.025;MQ=59.52;MQRankSum=-1.143e+01;QD=0.30;ReadPosRankSum=-3.360e+00;SOR=2.949	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:96,0:96:99:.:.:0,120,1800	19	0	1	1
chr19	8946438	8946438	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.G30332C:p.S10111T,	.	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.013	B	0.01	B	.	.	.	.	0.425	N	1.94	T	-1.012	T	0.024	T	0.096	-0.914	0.409	-5.89	-3.384	-2.588	2.019	0.064	0.0010995266412	8.2e-05	0.000199681	0.0001	0.0001	0	0	0	4.501e-05	0	0.0005	0.0001035	16	154602	rs370757044	4.174e-05	4.173e-05	2.178e-05	6.189e-05	0.0005	3.311e-05	3.001e-05	0.0003	0.0003	5.975e-05	6.711e-05	0	0	0	0	1.349e-05	1.656e-05	0.0005	9.191e-05	9.186e-05	6.422e-05	0.0001	0.0004	5.523e-05	4.361e-05	8.872e-05	5.283e-05	7.215e-05	0	0.0003	0	0	0	0	7.35e-05	0	0.0004	0.194	0.20835	T	0.087	0.40747	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.94	0.22678	T	-1.17	0.29933	N	0.06	0.03175	-1.0125	0.26133	T	0.024	0.10058	T	8	0.019943208	0.00452	T	0.001	0.01312	T	0.064	0.18567	.	.	0.0297737177859	0.01360	0.06683044466146983	0.06621	.	.	0.211163431406	0.00862	T	.	.	.	-0.608763	0.00129	T	-0.762791	0.03013	T	0.0158002780592943	0.00369	T	0.181582	0.01831	T	.	.	.	.	.	.	.	.	-5.002	0.36861	T	.	.	0.099	0.16843	B	.	.	-0.892859	0.00938	0.036	0.11973022487052444	0.00195	0.00346	0.01789	N	AEFBI	0.016943	0.00413	N	-2.12221432384928	0.00114	0.004895776	-2.23754091160977	0.00092	0.004048361	0.912817668340972	0.26405	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.95	-5.89	0.02093	-2.672000	0.00915	.	.	-1.149000	0.01428	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.108:0.276:0.3001:0.316	2.019	0.03291	917	0.20147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2488.98	110	chr19	8946438	.	C	G	2488.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.25;DP=2480;ExcessHet=0.0000;FS=3.263;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=-1.665e+00;SOR=0.754	GT:AD:DP:GQ:PL	0/0:119,0:119:99:0,120,1800	20	0	1	0
chr19	8946646	8946646	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.A30124G:p.S10042G,	.	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.673	P	0.351	B	.	.	.	.	0.345	N	1.73	T	-1.033	T	0.033	T	0.122	0.168	4.903	-1.88	-0.588	-1.602	3.052	0.049	0.000885136751838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.79e-06	4.788e-06	4.084e-06	5.502e-06	0.0003	1.99e-06	1.28e-06	6.098e-05	2.523e-05	0	0	0	0	0	0.0003	8.995e-07	0	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.34269	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.73	0.26445	T	-2.08	0.47514	N	0.058	0.02964	-1.0333	0.19395	T	0.033	0.14203	T	8	0.076921046	0.12077	T	8.85E-4	0.00800	T	0.049	0.13647	0.129	0.03412	0.0482279557977	0.04254	0.043027803746123486	0.04247	.	.	0.219705268741	0.01293	T	.	.	.	-0.316454	0.07192	T	-0.692341	0.06255	T	0.177037910233403	0.19047	T	0.216078	0.02692	T	.	.	.	.	.	.	.	.	-5.897	0.45410	T	.	.	0.076	0.05800	B	.	.	-0.185436	0.03167	0.516	0.28140632811370053	0.01431	0.00901	0.03531	N	AEFBI	0.026321	0.01955	N	-0.95281343271325	0.09630	0.4565945	-1.14240206241704	0.06905	0.3339914	1.66840638606022E-4	0.05721	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.21	-1.88	0.07294	-1.155000	0.03273	.	.	-0.214000	0.08267	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4317:0.0:0.2199:0.3484	3.052	0.05800	917	0.20147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2005.98	110	chr19	8946646	.	T	C	2005.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.116e+00;DP=2446;ExcessHet=0.0000;FS=1.863;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.96;ReadPosRankSum=-4.010e-01;SOR=0.547	GT:AD:DP:GQ:PL	0/0:119,0:119:99:0,120,1800	20	0	1	0
chr19	8947821	8947821	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C28949T:p.T9650I,	.	.	431	1080	10	1	0	12	0.00552486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.995	D	0.961	D	.	.	.	.	0.895	L	4.28	T	-1.004	T	0.017	T	0.119	0.075	4.408	1.51	0.632	0.545	7.227	0.041	0.000596836674538	.	0.000399361	0.0002	0	0.0002	0	0	8.994e-05	0	0.0012	0.000194	30	154602	rs545014054	0.0001	0.0001	8.441e-05	0.0002	0.0031	0.0001	0.0001	0.0020	0.0017	0	0.0003	0	0	0	0.0031	2.968e-05	0.0002	0.0013	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	8.715e-05	0.0008	0.0006	0	0	0.0007	0	0	0	0.0034	5.88e-05	0	0.0017	0.002	0.72154	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.28	0.02487	T	-4.5	0.78135	D	0.049	0.02088	-1.0045	0.28607	T	0.017	0.06759	T	8	0.018210888	0.00394	T	5.97E-4	0.00274	T	0.041	0.10877	0.24	0.17218	0.0762999501168	0.06990	0.11891972679479476	0.11818	.	.	0.248697668314	0.03632	T	.	.	.	-0.586976	0.00175	T	-0.666367	0.07843	T	0.113970879381483	0.13830	T	0.234876	0.03235	T	.	.	.	.	.	.	.	.	-6.384	0.49384	T	.	.	0.206	0.43186	B	.	.	0.365561	0.07381	4.004	0.29873056108307561	0.01606	0.03797	0.09124	N	AEFBI	0.022161	0.01074	N	-0.386801544564827	0.25938	1.411843	-0.624394547801181	0.18867	1.009798	1.50795423718389E-4	0.05573	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.61	1.51	0.22094	0.159000	0.16258	.	.	0.373000	0.20310	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.2776:0.7224:0.0	7.227	0.25195	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2570.98	93	chr19	8947821	.	G	A	2570.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.93;DP=2408;ExcessHet=0.0000;FS=0.497;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=0.664;SOR=0.768	GT:AD:DP:GQ:PL	0/0:134,0:134:99:0,120,1800	20	0	1	0
chr19	8950311	8950311	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C26459T:p.T8820I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.565	P	0.064	B	.	.	.	.	0.895	L	1.56	T	-1.044	T	0.038	T	0.186	-0.099	3.515	-0.287	0.022	-0.276	4.904	0.034	0.00128604113111	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs780901603	6.842e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.056	0.46632	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.56	0.29602	T	-0.33	0.12472	N	0.051	0.02272	-1.0444	0.16000	T	0.038	0.16591	T	8	0.083120584	0.13792	T	0.001286	0.01759	T	0.034	0.08419	0.208	0.12497	0.0762999501168	0.06990	0.11887736709278562	0.11814	.	.	0.268447011709	0.05939	T	.	.	.	-0.259143	0.13000	T	-0.610018	0.11983	T	0.0762434145528715	0.09500	T	0.226677	0.03000	T	.	.	.	.	.	.	.	.	-6.34	0.49039	T	.	.	0.221	0.45199	B	.	.	0.513669	0.08826	5.603	0.24903850941138744	0.01123	0.01646	0.05293	N	AEFBI	0.019163	0.00641	N	-1.08633393906722	0.06894	0.3186926	-1.22404862246275	0.05525	0.2635118	9.33688786746802E-5	0.04910	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.12	-0.287	0.12222	-0.083000	0.11250	.	.	-0.269000	0.06763	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3342:0.0:0.6658:0.0	4.904	0.13144	917	0.20147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2618.98	103	chr19	8950311	.	G	A	2618.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.441e+00;DP=2818;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=0.348;SOR=0.658	GT:AD:DP:GQ:PL	0/0:154,0:154:99:0,120,1800	20	0	1	0
chr19	8951955	8951955	A	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.T24815G:p.L8272R,	.	.	412	1101	9	0	0	9	0.00407056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.798	P	0.332	B	.	.	.	.	0.695	N	1.24	T	-1.002	T	0.052	T	0.168	0.015	4.089	-4.6	-0.939	-1.478	8.216	0.076	.	0.0002	0.00239617	0.0011	0	0.0003	0	0	0.0002	0.0022	0.0072	0.0009638	149	154602	rs201558618	0.0006	0.0006	0.0003	0.0008	0.0072	0.0005	0.0005	0.0068	0.0066	0	0.0001	0	0	0	0.0033	0.0001	0.0005	0.0072	0.0004	0.0004	0.0003	0.0004	0.0083	0.0003	0.0003	0.0063	0.0056	2.406e-05	0	0.0002	0	0.0002	0	0	0.0002	0.0005	0.0083	0.013	0.53900	D	0.027	0.55341	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.24	0.36691	T	-0.19	0.09965	N	0.183	0.19861	-1.0015	0.29488	T	0.052	0.22230	T	8	0.005577415	0.00123	T	.	.	.	0.076	0.22200	.	.	0.0762999501168	0.06990	0.051510485554832085	0.05093	.	.	0.188459247351	0.00199	T	.	.	.	-0.585983	0.00177	T	-0.610075	0.11978	T	0.0427523429013367	0.04192	T	0.19768	0.02201	T	.	.	.	.	.	.	.	.	-6.627	0.51259	T	.	.	0.163	0.36073	B	.	.	-0.290650	0.02658	0.339	0.35847109160498031	0.02273	0.02259	0.06535	N	AEFBI	0.028176	0.02435	N	-1.14330861850654	0.05890	0.2697483	-1.36494604592118	0.03632	0.1698581	0.00182748370770773	0.08920	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.55	-4.6	0.03148	-1.027000	0.03703	.	.	-1.600000	0.00894	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7157:0.0:0.2843:0.0	8.216	0.30671	917	0.20147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2828.98	106	chr19	8951955	.	A	C	2828.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.554e+00;DP=2515;ExcessHet=0.0000;FS=1.716;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=0.297;SOR=0.571	GT:AD:DP:GQ:PL	0/0:121,0:121:99:0,120,1800	20	0	1	0
chr19	8952999	8952999	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C23771T:p.T7924M,	.	.	419	1095	7	1	0	9	0.00409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.542	P	.	.	.	.	1.59	L	1.56	T	-0.904	T	0.079	T	0.086	0.163	4.879	2.34	1.629	-0.157	8.242	0.059	0.00131915574947	0.0002	.	0.0004	0	0.0009	0	0.0002	0.0004	0	0.0002	0.000304	47	154602	rs201509856	0.0003	0.0003	0.0003	0.0003	0.0059	0.0003	0.0002	0.0043	0.0038	0.0002	0.0010	0	0	1.873e-05	0.0059	0.0002	0.0007	0.0001	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0003	0.0002	4.813e-05	0	0.0005	0	0.0002	0	0.0034	0.0004	0.0005	0.0004	0.002	0.72154	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.56	0.29602	T	-1.11	0.28703	N	0.083	0.05929	-0.9042	0.47538	T	0.079	0.31466	T	8	0.028915823	0.01021	T	0.001319	0.01860	T	0.059	0.16972	.	.	0.290590437066	0.28656	0.0859577918344541	0.08529	.	.	0.188898384571	0.00206	T	.	.	.	-0.587777	0.00173	T	-0.662629	0.08089	T	0.0287179128233308	0.01795	T	0.319468	0.06419	T	.	.	.	.	.	.	.	.	-5.587	0.42674	T	.	.	0.084	0.09772	B	.	.	0.878587	0.12517	9.047	0.38050217989944235	0.02543	0.01884	0.05793	N	AEFBI	0.015952	0.00330	N	-0.350549341603676	0.27251	1.493698	-0.569674404847815	0.20285	1.092233	9.75075109686685E-4	0.08079	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.34	2.34	0.28071	0.580000	0.23505	.	.	-0.183000	0.09960	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:1.0:0.0	8.242	0.30827	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2424.98	106	chr19	8952999	.	G	A	2424.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.45;DP=2533;ExcessHet=0.0000;FS=3.239;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=0.074;SOR=0.501	GT:AD:DP:GQ:PL	0/0:121,0:121:99:0,120,1800	20	0	1	0
chr19	8955007	8955007	C	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.G21763T:p.V7255L,	.	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.002	B	.	.	.	.	-0.895	N	4.27	T	-0.894	T	0.003	T	0.088	0.678	7.627	-5.51	-0.572	-1.023	5.103	0.044	0.00106147206234	.	.	4.149e-05	0	0	0	0	6.004e-05	0.0011	0	3.23e-05	5	154602	rs763716966	7.528e-06	7.524e-06	6.808e-06	8.254e-06	3.481e-05	4.04e-06	2.95e-06	9.25e-06	4.56e-06	0	0	0	2.519e-05	0	0	3.598e-06	4.97e-05	3.481e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.556	0.06461	T	0.072	0.43344	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.27	0.02513	T	-0.22	0.10480	N	0.015	0.00181	-0.8941	0.48567	T	0.003	0.01092	T	8	0.062570095	0.08021	T	0.001061	0.01215	T	0.044	0.11924	0.171	0.07655	0.0551355673512	0.04727	0.01837006421681249	0.01791	.	.	0.17468214035	0.00055	T	.	.	.	-0.533645	0.00366	T	-0.822793	0.01396	T	0.0121873942771986	0.00195	T	0.245875	0.03603	T	.	.	.	.	.	.	.	.	-3.201	0.12493	T	.	.	0.132	0.28607	B	.	.	-1.223649	0.00508	0.011	0.21187944228180816	0.00796	0.01449	0.04856	N	AEFBI	0.024918	0.01621	N	-1.47057518924809	0.02060	0.09056908	-1.54297286765731	0.02025	0.09253631	0.00319983967088313	0.09983	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.75	-5.51	0.02366	-3.546000	0.00486	.	.	-0.362000	0.05498	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.274:0.4515:0.2745	5.103	0.14100	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3019.98	106	chr19	8955007	.	C	A	3019.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.55;DP=2826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.86;ReadPosRankSum=0.638;SOR=0.678	GT:AD:DP:GQ:PL	0/0:121,0:121:99:0,120,1800	20	0	1	0
chr19	8957439	8957439	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C19331T:p.T6444I,	.	.	432	1079	11	0	0	11	0.00507146	.	.	2815416	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.842	P	0.201	B	.	.	.	.	1.59	L	4.28	T	-0.974	T	0.008	T	0.097	0.039	4.214	1.07	0.469	-0.229	4.928	0.021	0.000696921307517	0.0011	0.00139776	0.0014	0	0.0036	0	0.0002	0.0013	0.0056	0.0025	0.0013325	206	154602	rs61747870	0.0009	0.0009	0.0008	0.0010	0.0127	0.0008	0.0008	0.0103	0.0095	0.0005	0.0021	0.0057	0	5.618e-05	0.0127	0.0006	0.0016	0.0029	0.0009	0.0009	0.0008	0.0010	0.0039	0.0008	0.0007	0.0026	0.0021	0.0002	0	0.0018	0.0066	0.0002	0	0.0136	0.0008	0.0005	0.0039	0.004	0.65419	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.28	0.02487	T	-0.19	0.09965	N	0.066	0.03841	-0.9740	0.36344	T	0.008	0.02926	T	8	0.0061721206	0.00139	T	6.97E-4	0.00435	T	0.021	0.04004	.	.	0.112648838833	0.10856	0.08462932768184768	0.08396	.	.	0.232946559787	0.02193	T	.	.	.	-0.661396	0.00062	T	-0.728063	0.04415	T	0.0342330308824738	0.02677	T	0.219378	0.02807	T	.	.	.	.	.	.	.	.	-5.849	0.44999	T	.	.	0.173	0.37951	B	.	.	-0.084997	0.03731	0.769	0.31097120203898443	0.01735	0.00794	0.03241	N	AEFGBI	0.016610	0.00384	N	-0.666549632654946	0.16979	0.8698771	-0.865539553940248	0.12914	0.6670829	7.52366214444716E-4	0.07758	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.15	1.07	0.19399	-0.304000	0.08238	.	.	0.507000	0.23093	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.186:0.0:0.814:0.0	4.928	0.13253	911	0.21964	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	5625.08	96	chr19	8957439	.	G	A	5625.08	.	AC=2;AF=0.048;AN=42;DP=2154;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=34.30;SOR=0.743	GT:AD:DP:GQ:PL	0/0:127,0:127:99:0,120,1800	20	1	0	0
chr19	8957901	8957901	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C18869T:p.T6290I,	.	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.829	P	.	.	.	.	1.445	L	1.63	T	-0.857	T	0.106	T	0.085	0.379	6.058	2.35	1.619	-0.148	8.249	0.047	0.00193307550577	8e-05	0.000998403	0.0005	0	8.639e-05	0	0	0.0003	0	0.0025	0.0004851	75	154602	rs201749237	0.0004	0.0004	0.0003	0.0005	0.0027	0.0004	0.0004	0.0024	0.0023	2.988e-05	0.0003	3.827e-05	0	0.0003	0.0014	0.0003	0.0004	0.0027	0.0004	0.0004	0.0003	0.0004	0.0015	0.0003	0.0003	0.0007	0.0006	7.22e-05	0	0.0011	0	0	9.422e-05	0	0.0004	0.0005	0.0015	0.003	0.68238	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.63	0.28002	T	-1.36	0.33798	N	0.056	0.02759	-0.8567	0.51498	T	0.106	0.38661	T	8	0.00640586	0.00145	T	0.001933	0.03430	T	0.047	0.12962	.	.	0.143124449307	0.13826	0.06538962263867727	0.06477	.	.	0.245085567236	0.03268	T	.	.	.	-0.618526	0.00112	T	-0.665549	0.07896	T	0.0215964933868581	0.00864	T	0.243776	0.03556	T	.	.	.	.	.	.	.	.	-5.73	0.43959	T	.	.	0.181	0.39425	B	.	.	0.359460	0.07324	3.935	0.35698789819713506	0.02255	0.04230	0.09750	N	AEFBI	0.016628	0.00386	N	-0.317574646473051	0.28480	1.571246	-0.552782191329191	0.20732	1.118325	0.00622124831571073	0.11161	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.35	2.35	0.28166	0.523000	0.22632	.	.	0.373000	0.20310	0.001000	0.13787	0.000000	0.08366	0.022000	0.11911	0.0:0.0:1.0:0.0	8.249	0.30866	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2241.98	178	chr19	8957901	.	G	A	2241.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.473;DP=2311;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.60;ReadPosRankSum=0.496;SOR=0.705	GT:AD:DP:GQ:PL	0/0:127,0:127:99:0,120,1800	20	0	1	0
chr19	8960112	8960112	G	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C16658G:p.T5553S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.039	B	0.01	B	.	.	.	.	0.46	N	4.32	T	-0.975	T	0.006	T	0.073	0.140	4.751	0.516	0.246	-0.156	4.470	0.020	0.000557080928074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.157e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.829	0.03728	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.32	0.02387	T	-0.21	0.10308	N	0.075	0.04913	-0.9746	0.36213	T	0.006	0.02093	T	8	0.07552707	0.11684	T	5.57E-4	0.00221	T	0.020	0.03691	0.185	0.09388	0.0551355673512	0.04727	0.035792942912204175	0.03526	.	.	0.202649399638	0.00538	T	.	.	.	-0.349539	0.04756	T	-0.739865	0.03897	T	0.0618408806247755	0.07456	T	0.175282	0.01690	T	.	.	.	.	.	.	.	.	-6.16	0.47598	T	.	.	0.152	0.33687	B	.	.	-0.090120	0.03699	0.754	0.29992123822200517	0.01618	0.01671	0.05346	N	AEFBI	0.022470	0.01128	N	-1.07162818838596	0.07170	0.3322678	-1.15085085909645	0.06753	0.3261131	1.23712550126271E-4	0.05386	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.67	0.516	0.16217	0.166000	0.16400	.	.	0.497000	0.22564	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.2126:0.0:0.7874:0.0	4.470	0.11128	905	0.23532	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07895	538.84	122	chr19	8960112	.	G	C	538.84	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-6.244e+00;DP=3173;ExcessHet=0.3300;FS=139.984;InbreedingCoeff=-0.1054;MLEAC=3;MLEAF=0.079;MQ=59.98;MQRankSum=0.00;QD=0.86;ReadPosRankSum=1.27;SOR=10.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:151,0:151:99:.:.:0,120,1800	16	0	3	2
chr19	8960119	8960119	G	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C16651G:p.L5551V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.161	B	0.02	B	.	.	.	.	0.55	N	4.12	T	-0.930	T	0.006	T	0.049	-0.281	2.657	-2.32	-0.560	-0.071	2.671	0.009	0.000543875640918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0046	0.0004	0.0003	0.0005	0.0003	0.0003	0.0004	0.0004	0.0003	0	7.709e-05	2.528e-05	1.873e-05	0.0005	0.0004	0.0003	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.17	0.30436	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.12	0.02891	T	-0.47	0.15178	N	0.033	0.00882	-0.9298	0.44168	T	0.006	0.01870	T	8	0.085291326	0.14384	T	5.44E-4	0.00196	T	0.009	0.00846	0.365	0.37199	0.0666544352282	0.05500	0.015111024971760428	0.01467	.	.	0.188878178596	0.00206	T	.	.	.	-0.389004	0.02730	T	-0.796554	0.01990	T	0.0609075275757631	0.07310	T	0.254675	0.03932	T	.	.	.	.	.	.	.	.	-2.317	0.04650	T	.	.	0.123	0.25624	B	.	.	0.011736	0.04362	1.121	0.32950984902077818	0.01937	0.01410	0.04768	N	AEFBI	0.025280	0.01704	N	-1.15944051857617	0.05626	0.2569829	-1.2906235606344	0.04556	0.2151828	2.06696283457496E-4	0.05948	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.67	-2.32	0.06360	-0.454000	0.06845	.	.	-0.409000	0.05269	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3789:0.2604:0.3607:0.0	2.671	0.04752	905	0.23532	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	97.98	150	chr19	8960119	.	G	C	97.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.063e+00;DP=3370;ExcessHet=0.0000;FS=112.061;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.44;ReadPosRankSum=-5.400e-01;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:151,0:151:99:.:.:0,120,1800	20	0	1	0
chr19	8960197	8960197	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.T16573C:p.S5525P,	.	.	435	1076	10	1	0	12	0.00554529	.	.	716820	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.001	B	0.001	B	.	.	.	.	0.975	L	4.19	T	-0.987	T	0.005	T	0.044	-0.111	3.455	0.851	0.192	0.206	3.871	0.041	.	0.0051	0.00479233	0.0083	0.0013	0.0018	0	0.0181	0.0119	0.0067	0.0027	0.0079947	1236	154602	rs79202331	0.0082	0.0082	0.0082	0.0082	0.0111	0.0081	0.0080	0.0089	0.0087	0.0010	0.0025	0.0144	2.519e-05	0.0177	0.0111	0.0089	0.0071	0.0024	0.0072	0.0072	0.0072	0.0072	0.0097	0.0069	0.0067	0.0091	0.0088	0.0015	0	0.0075	0.0130	0	0.0172	0.0204	0.0097	0.0076	0.0029	0.097	0.30943	T	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.19	0.02716	T	-0.54	0.16598	N	0.036	0.01068	-0.9867	0.33420	T	0.005	0.01833	T	8	0.0048202574	0.00102	T	.	.	.	0.041	0.10877	.	.	0.0297737177859	0.01360	0.022173761645922854	0.02169	.	.	0.198162183166	0.00405	T	.	.	.	-0.73462	0.00022	T	-0.815033	0.01555	T	0.0015036828539327	0.00015	T	0.150285	0.01269	T	.	.	.	.	.	.	.	.	-5.308	0.40022	T	.	.	0.093	0.14015	B	.	.	0.592832	0.09614	6.386	0.28077173634888841	0.01424	0.01306	0.04530	N	AEFBI	0.034542	0.04297	N	-1.25663538588278	0.04213	0.1897029	-1.33152552968312	0.04028	0.1891625	1.16888634297352E-4	0.05269	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.89	0.851	0.18128	0.085000	0.14759	.	.	-0.230000	0.07744	0.005000	0.17040	0.000000	0.08366	0.032000	0.13371	0.8048:0.0:0.1952:0.0	3.871	0.08542	905	0.23532	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2846.98	123	chr19	8960197	.	A	G	2846.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.267e+00;DP=3014;ExcessHet=0.0000;FS=11.488;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=-7.870e-01;SOR=0.766	GT:AD:DP:GQ:PL	0/0:172,0:172:99:0,120,1800	20	0	1	0
chr19	8960385	8960385	G	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C16385G:p.T5462R,	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.991	D	0.855	P	.	.	.	.	0.895	L	1.33	T	-0.945	T	0.092	T	0.075	-0.139	3.321	-1.95	-0.309	0.092	4.466	0.056	0.00173710243747	.	0.000199681	4.971e-05	0	8.657e-05	0	0	4.497e-05	0.0011	6.056e-05	5.17e-05	8	154602	rs186476303	9.031e-05	9.029e-05	7.896e-05	0.0001	0.0001	7.757e-05	7.3e-05	8.852e-05	8.238e-05	0	8.944e-05	0	0	0	0	0.0001	0.0001	3.478e-05	9.852e-05	9.843e-05	5.14e-05	0.0001	0.0008	6.004e-05	4.878e-05	0.0003	0.0002	0	0	0.0002	0	0	0	0	0.0001	0	0.0008	0.003	0.68238	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.33	0.35031	T	-0.94	0.25118	N	0.078	0.05287	-0.9453	0.41764	T	0.092	0.35092	T	8	0.073467046	0.11102	T	0.001737	0.02934	T	0.056	0.15993	.	.	0.245660935333	0.24156	0.1033340142650841	0.10263	.	.	0.204365819693	0.00594	T	.	.	.	-0.471476	0.00832	T	-0.66671	0.07820	T	0.131658002734184	0.15535	T	0.265773	0.04346	T	.	.	.	.	.	.	.	.	-6.757	0.52238	T	.	.	0.153	0.33846	B	.	.	0.094220	0.04970	1.535	0.33305687591221217	0.01977	0.06411	0.12415	N	AEFDGBHCI	0.021800	0.01015	N	-0.596042695570995	0.19065	0.9948507	-0.87187643193095	0.12763	0.6583715	6.18253576726731E-4	0.07460	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.32	-1.95	0.07135	0.055000	0.14112	.	.	-1.025000	0.01715	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2161:0.3551:0.4288	4.466	0.11111	905	0.23532	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2785.98	123	chr19	8960385	.	G	C	2785.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.350e-01;DP=3072;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=-6.920e-01;SOR=0.679	GT:AD:DP:GQ:PL	0/0:172,0:172:99:0,120,1800	20	0	1	0
chr19	8963817	8963817	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C12953A:p.A4318D,	.	.	432	1065	25	0	0	25	0.0116009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.183	B	0.059	B	.	.	.	.	0.895	L	4.15	T	-0.919	T	0.004	T	0.181	0.510	6.763	-2.15	-0.420	-0.898	0.779	0.047	0.00106911805536	0.0020	0.00159744	0.0017	0.0001	0.0002	0	0.0003	0.0022	0.0011	0.0033	0.0015977	247	154602	rs117710966	0.0017	0.0017	0.0016	0.0018	0.0113	0.0017	0.0016	0.0091	0.0083	8.962e-05	0.0002	0.0115	0	0.0001	0.0113	0.0015	0.0023	0.0031	0.0012	0.0012	0.0014	0.0010	0.0029	0.0011	0.0010	0.0018	0.0014	7.225e-05	0	0.0004	0.0087	0	0.0005	0.0137	0.0017	0.0033	0.0029	0.09	0.31987	T	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.15	0.02815	T	-1.44	0.35399	N	0.066	0.03841	-0.9187	0.45729	T	0.004	0.01470	T	8	0.00501281	0.00108	T	0.001069	0.01239	T	0.047	0.12962	.	.	0.0611884634855	0.05136	0.04861217855754638	0.04804	.	.	0.200518429279	0.00472	T	.	.	.	-0.643579	0.00079	T	-0.69997	0.05828	T	0.0107415739613159	0.00152	T	0.264674	0.04299	T	.	.	.	.	.	.	.	.	-5.249	0.39435	T	.	.	0.214	0.44280	B	.	.	0.147463	0.05401	1.879	0.44896536660640829	0.03485	0.00748	0.03114	N	AEFBI	0.023943	0.01406	N	-1.06639664991113	0.07270	0.337195	-1.19638515492133	0.05970	0.2859846	1.75769450194521E-4	0.05786	0.500041	0.20204	0	0.573888	0.26702	0	0.573888	0.23631	0	0.503917	0.08554	0	.	.	1.98	-2.15	0.06705	-0.911000	0.04159	.	.	0.373000	0.20310	0.000000	0.06391	0.000000	0.08366	0.401000	0.26804	0.1644:0.2351:0.362:0.2386	0.779	0.00972	905	0.23532	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2059.98	98	chr19	8963817	.	G	T	2059.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.831e+00;DP=2179;ExcessHet=0.0000;FS=0.651;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.61;ReadPosRankSum=-1.148e+00;SOR=0.602	GT:AD:DP:GQ:PL	0/0:94,0:94:99:0,120,1800	20	0	1	0
chr19	8964694	8964694	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.A12076G:p.T4026A,	.	.	434	1055	31	2	0	35	0.016317	.	.	2815426	not_provided|MUC16-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.015	B	0.021	B	.	.	.	.	0.345	N	4.35	T	-0.911	T	0.003	T	0.024	-0.725	0.892	-2.75	-1.188	-0.649	1.136	0.075	.	0.0022	0.00279553	0.0034	0.0004	0.0019	0	0.0002	0.0033	0.0122	0.0088	0.0032276	499	154602	rs148585362	0.0027	0.0027	0.0025	0.0029	0.0161	0.0026	0.0026	0.0135	0.0125	0.0007	0.0029	0.0145	2.519e-05	5.618e-05	0.0161	0.0021	0.0039	0.0088	0.0024	0.0024	0.0024	0.0024	0.0077	0.0022	0.0021	0.0057	0.0050	0.0003	0	0.0042	0.0118	0.0002	9.42e-05	0.0238	0.0027	0.0047	0.0077	0.011	0.55530	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.35	0.02319	T	-0.79	0.21860	N	0.013	0.00142	-0.9108	0.46756	T	0.003	0.00994	T	8	0.0037052333	0.00068	T	.	.	.	0.075	0.21907	.	.	0.0138822411134	0.00435	0.0659111179427683	0.06530	.	.	0.206093788147	0.00656	T	.	.	.	-0.757965	0.00016	T	-0.854718	0.00902	T	0.00588009084003625	0.00065	T	0.238576	0.03390	T	.	.	.	.	.	.	.	.	-4.171	0.26330	T	.	.	0.082	0.08899	B	.	.	-0.230600	0.02939	0.431	0.22670875842891453	0.00923	0.01979	0.05984	N	AEFBI	0.020420	0.00804	N	-2.07862487576974	0.00143	0.00610154	-2.1391363994693	0.00153	0.006729086	5.16135264836763E-4	0.07201	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.18	-2.75	0.05564	-1.122000	0.03378	.	.	-0.804000	0.03133	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1782:0.1271:0.3633:0.3314	1.136	0.01647	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3083.98	42	chr19	8964694	.	T	C	3083.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.800e-01;DP=2021;ExcessHet=0.0000;FS=1.856;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.33;ReadPosRankSum=0.571;SOR=0.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:94,0:94:99:.:.:0,120,1800	20	0	1	0
chr19	8980661	8980661	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon1:c.G478A:p.E160K,	.	.	425	1081	14	2	0	18	0.00825688	.	.	2811540	not_provided|MUC16-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.938	P	0.261	B	.	.	.	.	0	N	4.2	T	-0.904	T	0.005	T	0.2	0.210	5.134	0.204	0.109	-0.255	4.622	0.044	0.00116858358726	0.0002	0.000998403	0.0006	0	0.0003	0	0	0.0006	0.0022	0.0021	0.0005757	89	154602	rs199922056	0.0004	0.0004	0.0003	0.0005	0.0028	0.0004	0.0004	0.0018	0.0017	5.974e-05	0.0002	0.0001	0	3.745e-05	0.0028	0.0003	0.0006	0.0021	0.0004	0.0004	0.0004	0.0003	0.0035	0.0003	0.0003	0.0022	0.0018	0	0	0.0002	0	0	9.418e-05	0.0034	0.0005	0.0014	0.0035	0.0	0.91255	D	0.043	0.49942	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	4.2	0.02689	T	-0.96	0.25551	N	0.169	0.17966	-0.9043	0.47527	T	0.005	0.01542	T	8	0.00674057	0.00153	T	0.001169	0.01484	T	0.044	0.11924	.	.	0.0954503805726	0.09146	0.030180406335303812	0.02967	.	.	0.244207590818	0.03182	T	.	.	.	-0.605182	0.00135	T	-0.648246	0.09077	T	0.0294080645876312	0.01900	T	0.349965	0.07784	T	.	.	.	.	.	.	.	.	-3.992	0.23683	T	.	.	0.167	0.36752	B	.	.	0.808876	0.11799	8.369	0.68935291730639947	0.08813	0.00985	0.03747	N	AEFBI	0.025679	0.01801	N	-0.825848555266625	0.12652	0.6180644	-1.00220392878279	0.09737	0.4861658	9.33931258287073E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.38	0.204	0.14476	-0.559000	0.06062	.	.	0.333000	0.19617	0.000000	0.06391	0.000000	0.08366	0.146000	0.20164	0.3722:0.6278:0.0:0.0	4.622	0.11842	917	0.20147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2338.98	41	chr19	8980661	.	C	T	2338.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.315e+00;DP=972;ExcessHet=0.0000;FS=1.783;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.31;ReadPosRankSum=-1.700e-01;SOR=0.629	GT:AD:DP:GQ:PL	0/1:98,92:190:99:2353,0,2849	20	0	1	0
chr19	9102918	9102918	C	T	exonic	OR7G2	.	nonsynonymous SNV	OR7G2:NM_001005193:exon1:c.G389A:p.G130D,	.	.	427	1093	2	0	0	2	0.000914077	.	.	2373333	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.22	T	0.399	B	0.194	B	0.541	U	1.000	N	2.07	M	2.95	T	-1.007	T	0.025	T	0.355	2.073	12.89	-6.54	-1.232	-0.591	1.438	0.069	0.00119363684886	0.0003	0.000199681	0.0002	9.61e-05	0	0	0	0.0002	0	0.0002	0.0001488	23	154602	rs143603997	0.0001	0.0001	9.256e-05	0.0001	0.0004	9.603e-05	9.082e-05	0.0003	0.0002	0	0.0001	0	0	0	0.0003	9.712e-05	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0004	8.661e-05	7.254e-05	0.0001	8.878e-05	4.811e-05	0	0.0001	0	0	0	0	0.0002	0.0005	0.0004	0.085	0.32769	T	0.154	0.32040	T	0.399	0.34817	B	0.194	0.36557	B	0.540597	0.05311	U	1.402570	1	0.08975	N	0.62	0.15745	N	2.95	0.09635	T	-3.06	0.63090	D	0.21	0.23380	-1.0073	0.27758	T	0.025	0.10509	T	10	0.06258497	0.08023	T	0.001194	0.01533	T	0.069	0.20116	.	.	0.0401082797425	0.02173	0.45670846717286967	0.45588	0.150424504173	0.16965	0.221891507506	0.01422	T	0.009291	0.08464	T	-0.461807	0.00958	T	-0.600807	0.12743	T	0.0591861762792877	0.07039	T	0.726327	0.34071	T	0.092242785	0.21635	0.12966867	0.31173	0.092242785	0.21635	0.12966867	0.31172	-6.062	0.46795	T	.	.	0.247	0.53032	B	.;.	.;.	1.446241	0.18663	13.86	0.96337121475315024	0.29469	0.05627	0.11536	N	AEFBI	0.057002	0.10582	N	-1.00414085420751	0.08517	0.399658	-1.2428398257598	0.05238	0.2490952	6.83450347106229E-4	0.07622	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.27	-6.54	0.01692	-0.412000	0.07197	.	.	0.503000	0.22915	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2647:0.2508:0.3194:0.1651	1.438	0.02206	970	0.06235	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	5942.08	138	chr19	9102918	.	C	T	5942.08	.	AC=2;AF=0.048;AN=42;DP=1160;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.65;SOR=0.857	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1207	20	1	0	0
chr19	9126332	9126332	C	G	exonic	OR7G3	.	nonsynonymous SNV	OR7G3:NM_001001958:exon1:c.G619C:p.G207R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.601	P	0.412	B	0.035	U	1.000	N	3.425	M	1.2	T	-0.784	T	0.175	T	0.496	2.474	14.23	3.96	2.251	0.103	9.171	0.148	0.0129601194072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.005	0.72224	D	0.601	0.39346	P	0.412	0.44859	B	0.035298	0.24662	U	0.188054	1	0.08975	N	3.39	0.91563	M	1.2	0.37405	T	-6.84	0.93060	D	0.22	0.24634	-0.7843	0.56059	T	0.175	0.51927	T	10	0.72469664	0.73894	D	0.01296	0.31981	T	0.148	0.39182	0.848	0.95084	0.533518908381	0.53001	0.4318021742425304	0.43097	0.490571140272	0.47772	0.220593869686	0.01345	T	0.012303	0.10839	T	-0.0717031	0.41053	T	-0.340773	0.40257	T	0.877425372600555	0.52733	D	0.793221	0.43505	T	0.7804935	0.82684	0.71314687	0.83074	0.7804935	0.82686	0.71314687	0.83074	-9.14	0.68594	D	.	.	0.345	0.56271	A	.	.	2.460439	0.31693	18.82	0.99639340200657067	0.76571	0.14712	0.18546	N	AEFDBI	0.067503	0.13272	N	-0.137074263458421	0.35786	2.060001	-0.328174848127897	0.27193	1.507195	1.0231940158204E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.96	3.96	0.45097	0.147000	0.16021	.	.	0.502000	0.22824	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.8969:0.0:0.1031	9.171	0.36240	976	0.04745	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2224.98	111	chr19	9126332	.	C	G	2224.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.181e+00;DP=1520;ExcessHet=0.0000;FS=2.628;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.79;ReadPosRankSum=0.099;SOR=0.520	GT:AD:DP:GQ:PL	0/0:99,0:99:99:0,120,1800	20	0	1	0
chr19	9160906	9160906	C	T	exonic	ZNF317	.	nonsynonymous SNV	ZNF317:NM_001190791:exon6:c.C1165T:p.R389W	.	.	.	.	.	.	.	.	.	.	.	3360865	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.988	D	0.567	P	0.030	N	1.000	N	1.295	L	3.14	T	-1.038	T	0.020	T	0.281	2.117	13.04	-3.11	-0.616	-2.355	6.752	0.042	0.00267444377818	.	.	.	.	.	.	.	.	.	.	.	.	.	rs980263384	5.472e-06	5.472e-06	5.445e-06	5.5e-06	0.0002	2.35e-06	1.7e-06	1.94e-06	1.28e-06	0	0	0	0	0	0.0002	5.396e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.001	0.92824	D	0.974	0.62325	D	0.567	0.49782	P	0.029970	0.25377	N	0.192110	1	0.08975	N	1.995	0.54099	M	3.14	0.07920	T	-3.75	0.74821	D	0.322	0.38541	-1.0384	0.17802	T	0.020	0.08313	T	10	0.19494867	0.35326	T	0.002674	0.05463	T	0.042	0.11227	0.47	0.54376	0.633445606056	0.63044	0.3141320999701086	0.31326	1.15604357529	0.79368	0.46437972784	0.33910	T	0.268478	0.64060	T	-0.243154	0.14949	T	-0.571564	0.15306	T	0.867505490779877	0.51752	D	0.490951	0.15096	T	0.19032948	0.40613	0.21513683	0.46090	0.19032948	0.40613	0.21513683	0.46089	-8.575	0.64924	D	.	.	0.216	0.44834	B	.;.	.;.	2.965764	0.39511	21.0	0.99757848097266577	0.84772	0.12075	0.17044	N	AEFDBCI	0.061278	0.11703	N	-0.633673900616203	0.17940	0.9273975	-0.858644572904326	0.13080	0.6765706	0.0144285726218926	0.12594	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	2.92	-3.11	0.04975	-2.551000	0.01004	.	.	0.544000	0.25403	0.000000	0.06391	0.000000	0.08366	0.960000	0.51673	0.3104:0.5626:0.0:0.127	6.752	0.22677	976	0.04745	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3354.98	34	chr19	9160906	.	C	T	3354.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.82;DP=943;ExcessHet=0.0000;FS=0.999;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.98;ReadPosRankSum=-4.060e-01;SOR=0.602	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1290	20	0	1	0
chr19	9339210	9339210	G	T	exonic	ZNF559	.	nonsynonymous SNV	ZNF559:NM_001202406:exon4:c.G243T:p.E81D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.007	B	0.032	B	.	.	0.999	D	1.11	L	4.38	T	-0.881	T	0.005	T	0.245	0.602	7.246	-3.06	-0.578	-0.276	0.258	0.049	0.000825833119805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	0.05992	T	0.447	0.15355	T	0.007	0.14184	B	0.032	0.22131	B	.	.	.	.	0.998814	0.45492	D	2.06	0.56677	M	4.38	0.02255	T	0.47	0.03090	N	0.274	0.31253	-0.8807	0.49706	T	0.005	0.01688	T	9	0.089755684	0.15574	T	8.26E-4	0.00670	T	0.049	0.13647	0.438	0.49157	0.124217242631	0.12060	0.09459419970087661	0.09391	0.0397123237534	0.04241	0.276877969503	0.07061	T	0.003059	0.02464	T	-0.257664	0.13174	T	-0.607893	0.12156	T	0.0898033582063524	0.11195	T	0.0521948	0.00373	T	0.09879271	0.23306	0.0478329	0.06976	0.09879271	0.23305	0.0478329	0.06976	-5.69	0.44119	T	.	.	0.530	0.65942	A	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.011511	0.13907	10.46	0.95815392421499945	0.27896	0.31279	0.24297	N	AEFBI	0.056197	0.10370	N	-0.887457025375872	0.11140	0.5360065	-0.916944251959165	0.11694	0.5973612	0.00149890584717259	0.08586	0.638212	0.43195	0	0.670034	0.63936	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.42	-3.06	0.05053	-0.710000	0.05127	.	.	0.504000	0.22967	0.516000	0.27080	0.000000	0.08366	0.998000	0.85391	0.2354:0.1651:0.2654:0.3341	0.258	0.00199	970	0.06235	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;.;.;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1506.98	34	chr19	9339210	.	G	T	1506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.027;DP=842;ExcessHet=0.0000;FS=0.597;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.48;ReadPosRankSum=0.060;SOR=0.613	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1320	20	0	1	0
chr19	9342305	9342305	C	T	exonic	ZNF559	.	nonsynonymous SNV	ZNF559:NM_001202406:exon6:c.C1046T:p.A349V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.011	B	0.001	B	.	.	1.000	N	0.87	L	2.49	T	-0.961	T	0.019	T	0.124	0.258	5.396	-1.73	-0.354	-2.144	3.195	0.007	0.00146812790569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.389e-06	1.368e-06	0	2.795e-06	2.436e-05	2.3e-07	9e-08	4.04e-06	1.51e-06	0	0	0	0	0	0	0	0	2.436e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.618	0.05341	T	0.259	0.30926	T	0.011	0.15914	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.265	0.09922	N	2.49	0.14531	T	-0.68	0.19509	N	0.101	0.08366	-0.9611	0.38974	T	0.019	0.07986	T	9	0.054489344	0.05810	T	0.001468	0.02241	T	0.007	0.00512	0.279	0.23323	0.1749357433	0.17121	0.00554059669286404	0.00524	0.0144773795761	0.01372	0.207297354937	0.00702	T	0.00608	0.05517	T	-0.370134	0.03587	T	-0.769449	0.02786	T	0.0214476033566154	0.00847	T	0.412159	0.10706	T	0.02541744	0.01478	0.03017111	0.01440	0.02541744	0.01478	0.03017111	0.01440	-3.748	0.20029	T	.	.	0.248	0.48303	B	.;.;.;.	.;.;.;.	-0.652149	0.01435	0.086	0.68061921000604308	0.08543	0.00002	0.00064	N	AEFDGBHCI	0.053306	0.09594	N	-1.41721061236727	0.02487	0.1099089	-1.51610887683272	0.02220	0.1017697	0.00149038263820066	0.08576	0.693126	0.56070	0	0.659464	0.62310	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.99	-1.73	0.07646	-2.388000	0.01137	.	.	-0.427000	0.05212	0.000000	0.06391	0.000000	0.08366	0.060000	0.15972	0.2056:0.5127:0.0:0.2818	3.195	0.06236	970	0.06235	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2100.98	40	chr19	9342305	.	C	T	2100.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.181e+00;DP=990;ExcessHet=0.0000;FS=2.511;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.06;ReadPosRankSum=0.820;SOR=0.643	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1422	20	0	1	0
chr19	9414695	9414695	A	G	exonic	ZNF266	.	nonsynonymous SNV	ZNF266:NM_001370390:exon8:c.T230C:p.V77A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.0	B	0.0	B	.	.	1.000	N	-0.445	N	1.52	T	-1.020	T	0.027	T	0.032	0.608	7.277	0.264	-0.091	0.648	2.413	0.028	0.0012994308696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.15554	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.59	0.15444	N	1.62	0.30669	T	.	.	.	0.019	0.00279	-1.0195	0.23877	T	0.027	0.11751	T	9	0.05070132	0.04842	T	0.001299	0.01809	T	.	.	0.269	0.21735	0.0716867268079	0.06686	.	.	0.0302730504601	0.03124	0.188726812601	0.00203	T	0.024839	0.18689	T	-0.391324	0.02638	T	-0.799886	0.01905	T	0.0266237751457078	0.01491	T	0.0231377	0.00135	T	0.034675248	0.03937	0.03587461	0.02922	0.034675248	0.03936	0.03587461	0.02921	-2.896	0.09103	T	.	.	0.097	0.15877	B	.;.;.;.;.	.;.;.;.;.	0.448509	0.08186	4.921	0.39313500465167028	0.02705	0.00045	0.00362	N	AEFBCI	0.016481	0.00373	N	-1.446038419514	0.02248	0.09906374	-1.4627362794439	0.02657	0.1225827	1.07258213325659E-5	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	2.58	0.264	0.14862	-0.757000	0.04877	.	.	-0.088000	0.16191	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5204:0.0:0.2671:0.2125	2.413	0.04159	952	0.10565	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1498.98	39	chr19	9414695	.	A	G	1498.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=870;ExcessHet=0.0000;FS=1.774;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.14;ReadPosRankSum=0.414;SOR=0.475	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1456	20	0	1	0
chr19	9466956	9466956	G	A	exonic	ZNF560	.	nonsynonymous SNV	ZNF560:NM_001351678:exon10:c.C1673T:p.A558V	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.996	D	0.953	D	.	.	1.000	N	1.32	L	2.56	T	-1.081	T	0.048	T	0.062	2.663	14.86	-4.24	-1.245	-0.610	5.381	0.072	0.000949573740408	.	.	8.25e-06	0	8.654e-05	0	0	0	0	0	6.5e-06	1	154602	rs770847589	2.052e-06	2.052e-06	1.361e-06	2.75e-06	4.472e-05	5.5e-07	1.5e-07	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.011	0.64786	D	0.996	0.68779	D	0.953	0.69275	D	.	.	.	.	1	0.08975	N	1.11	0.28643	L	2.56	0.13673	T	-3.34	0.66325	D	0.111	0.09772	-1.0814	0.07079	T	0.048	0.20553	T	9	0.17648757	0.32635	T	9.5E-4	0.00957	T	0.072	0.21020	0.569	0.69167	0.188950314367	0.18478	0.013413483324502887	0.01299	0.29405852682	0.31822	0.263149857521	0.05271	T	0.192485	0.54765	T	-0.477924	0.00761	T	-0.748434	0.03547	T	0.880465447902679	0.53048	D	0.628437	0.24364	T	0.18762764	0.40225	0.19821458	0.43642	0.18762764	0.40225	0.19821458	0.43641	-5.693	0.43632	T	.	.	0.301	0.53103	B	.	.	2.561841	0.33183	19.26	0.99336800571592421	0.60012	0.03416	0.08541	N	AEFBCI	0.039518	0.05751	N	-0.628143973572011	0.18103	0.9371441	-0.94782118849735	0.10974	0.5561936	1.80752062605366E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.12	-4.24	0.03519	-0.431000	0.07034	.	.	0.662000	0.56354	0.000000	0.06391	0.000000	0.08366	0.354000	0.25750	0.0:0.3848:0.3231:0.2922	5.381	0.15493	952	0.10565	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2164.98	152	chr19	9466956	.	G	A	2164.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.96;DP=855;ExcessHet=0.0000;FS=2.031;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.24;ReadPosRankSum=1.37;SOR=0.811	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr19	9533882	9533882	T	C	exonic	ZNF426	.	nonsynonymous SNV	ZNF426:NM_001300883:exon3:c.A88G:p.S30G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.0	B	0.0	B	.	.	1.000	N	-0.075	N	4.69	T	-0.913	T	0.004	T	0.061	2.093	12.96	1.41	0.886	0.105	4.301	0.064	0.00122289665712	7.7e-05	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs377594816	1.3e-05	1.3e-05	1.497e-05	1.1e-05	1.709e-05	8.31e-06	6.7e-06	1.093e-05	8.81e-06	0	0	0	0	0	0	1.709e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.006	0.83351	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.095	0.08423	N	4.69	0.01694	T	-1.11	0.28703	N	0.128	0.12198	-0.9135	0.46415	T	0.004	0.01159	T	9	0.062663555	0.08046	T	0.001223	0.01608	T	0.064	0.18567	.	.	0.223847106136	0.22009	0.057071766341460016	0.05648	0.0557325641587	0.06161	0.243570774794	0.03121	T	0.041526	0.25887	T	-0.42871	0.01509	T	-0.745931	0.03647	T	0.0601672744160407	0.07195	T	0.0536946	0.00480	T	0.09920139	0.23409	0.083108716	0.19019	0.09920139	0.23409	0.083108716	0.19019	-2.246	0.04270	T	.	.	0.103	0.22208	B	.;.;.;.	.;.;.;.	1.796262	0.22833	15.78	0.97578457515888539	0.34720	0.04086	0.09547	N	AEFBI	0.027306	0.02208	N	-0.967711616816971	0.09300	0.4395411	-0.973165241777057	0.10390	0.5230126	0.00775613969431388	0.11537	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	1.41	1.41	0.21461	-0.451000	0.06869	.	.	0.582000	0.30178	0.000000	0.06391	0.000000	0.08366	0.947000	0.49155	0.0:0.0:0.3604:0.6396	4.301	0.10367	952	0.10565	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2194.08	35	chr19	9533882	.	T	C	2194.08	.	AC=2;AF=0.048;AN=42;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=27.77;SOR=0.941	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	1	0	0
chr19	9566712	9566712	G	C	exonic	ZNF121	.	nonsynonymous SNV	ZNF121:NM_001008727:exon4:c.C401G:p.S134C	.	.	419	1101	2	0	0	2	0.000907441	.	.	2231395	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.869	P	0.319	B	.	.	1.000	N	0.205	N	2.43	T	-1.011	T	0.021	T	0.164	-0.007	3.980	-2.08	-0.431	-1.851	7.115	0.112	0.00102168018662	.	.	1.649e-05	0	0	0.0001	0	1.5e-05	0	0	1.29e-05	2	154602	rs774271207	2.599e-05	2.599e-05	1.497e-05	3.713e-05	0.0009	1.932e-05	1.692e-05	0.0003	0.0002	2.987e-05	0	0	0	0	0.0009	5.396e-06	8.279e-05	0.0002	2.628e-05	2.627e-05	2.57e-05	2.69e-05	6.549e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	6.549e-05	0	0	0	0	2.94e-05	0.0005	0	0.105	0.29823	T	0.001	0.83351	D	0.869	0.47796	P	0.319	0.41696	B	.	.	.	.	1	0.08975	N	0.595	0.15482	N	2.43	0.15261	T	-1.98	0.45769	N	0.12	0.11054	-1.0112	0.26541	T	0.021	0.09009	T	9	0.14425114	0.27377	T	0.001022	0.01120	T	0.112	0.31546	0.722	0.85673	0.043077524339	0.03247	0.03332447121362171	0.03280	0.304690156816	0.32778	0.239063292742	0.02707	T	0.318418	0.68979	T	-0.483989	0.00701	T	-0.636801	0.09904	T	0.0547726272437573	0.06319	T	0.0247975	0.10202	T	0.05738787	0.11414	0.051220834	0.08200	0.05738787	0.11414	0.051220834	0.08200	-3.665	0.18803	T	.	.	0.078	0.21616	B	.;.;.	.;.;.	0.776892	0.11468	8.073	0.64952761884598886	0.07636	0.00005	0.00104	N	AEFDGBHCI	0.028017	0.02391	N	-1.08156621427832	0.06983	0.323051	-1.28960426213666	0.04570	0.2158689	0.93214448532301	0.27076	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	1.3	-2.08	0.06852	0.241000	0.17843	.	.	0.602000	0.45918	0.000000	0.06391	0.000000	0.08366	0.839000	0.39591	0.0:0.0:0.4717:0.5283	7.115	0.24588	952	0.10565	Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1615.98	34	chr19	9566712	.	G	C	1615.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.052;DP=800;ExcessHet=0.0000;FS=0.671;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=-1.570e-01;SOR=0.827	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,992	20	0	1	0
chr19	9758008	9758008	C	G	exonic	ZNF846	.	nonsynonymous SNV	ZNF846:NM_001353798:exon5:c.G682C:p.V228L	.	.	403	1116	3	0	0	3	0.00134228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	B	0.001	B	.	.	1.000	N	-1.14	N	2.46	T	-0.980	T	0.007	T	0.05	1.911	12.35	-4.02	-1.295	-1.093	1.371	0.017	0.000684223319064	0.0009	0.00119808	0.0003	0.0033	8.661e-05	0	0	0.0001	0	0	0.0003363	52	154602	rs139394148	0.0002	0.0002	0.0002	0.0002	0.0044	0.0002	0.0002	0.0038	0.0036	0.0044	0.0002	0	0	0	0.0029	7.194e-05	0.0006	2.319e-05	0.0011	0.0011	0.0011	0.0010	0.0036	0.0009	0.0009	0.0032	0.0030	0.0036	0	0.0001	0	0	0	0	0.0001	0.0010	0	0.24	0.17701	T	0.112	0.37037	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-1.275	0.00739	N	2.46	0.14907	T	-0.57	0.17210	N	0.03	0.00717	-0.9797	0.35071	T	0.007	0.02321	T	8	0.0042680204	0.00085	T	6.84E-4	0.00400	T	0.017	0.02790	0.398	0.42590	0.148003135375	0.14442	0.01252868058920087	0.01211	0.0113269033365	0.01058	0.240777403116	0.02861	T	0.002564	0.01954	T	-0.753927	0.00017	T	-0.855885	0.00888	T	0.0128012063783363	0.00218	T	0.714629	0.32694	T	0.05465445	0.10516	0.05546819	0.09736	0.05465445	0.10516	0.05546819	0.09736	-4.459	0.30348	T	.	.	0.129	0.27702	B	.	.	-0.269736	0.02752	0.369	0.86483364896799642	0.16566	0.00018	0.00208	N	AEFBHCI	0.049982	0.08690	N	-1.58284560719604	0.01352	0.05893196	-1.5915029531941	0.01707	0.07756527	0.00676574419427502	0.11302	0.615465	0.37627	0	0.588015	0.36545	0	0.463624	0.06942	0	0.655142	0.61905	0	.	.	2.01	-4.02	0.03764	-1.461000	0.02472	.	.	-0.318000	0.05900	0.000000	0.06391	0.000000	0.08366	0.989000	0.64315	0.1567:0.2111:0.1553:0.4768	1.371	0.02079	906	0.23090	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1100.98	107	chr19	9758008	.	C	G	1100.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=831;ExcessHet=0.0000;FS=1.571;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.29;ReadPosRankSum=-5.700e-01;SOR=0.878	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1191	20	0	1	0
chr19	9758010	9758010	T	A	exonic	ZNF846	.	nonsynonymous SNV	ZNF846:NM_001353798:exon5:c.A680T:p.H227L	.	.	395	1120	7	0	0	7	0.00311526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.99	D	.	.	1.000	N	3.945	H	-2.18	D	0.082	D	0.778	D	0.799	4.404	23.3	2.01	1.197	3.621	8.021	0.547	0.0115847110778	0.0063	0.00259585	0.0045	0.0013	0.0023	0.0002	0.0003	0.0070	0.0011	0.0018	0.0046959	726	154602	rs79195449	0.0072	0.0072	0.0073	0.0070	0.0094	0.0071	0.0070	0.0085	0.0085	0.0015	0.0019	0.0003	0	0.0007	0.0094	0.0087	0.0065	0.0024	0.0048	0.0048	0.0050	0.0046	0.0084	0.0045	0.0044	0.0078	0.0076	0.0016	0.0022	0.0033	0	0	0.0004	0.0136	0.0084	0.0095	0.0033	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.99	0.78936	D	.	.	.	.	1	0.81001	D	4.03	0.96931	H	-2.18	0.86722	D	-10.87	0.99235	D	0.569	0.59223	0.082	0.83846	D	0.778	0.92446	D	8	0.011049181	0.00243	T	0.011585	0.29347	T	0.547	0.81193	.	.	0.526486031964	0.52295	0.12134552205757543	0.12061	0.0750471914227	0.08422	0.590041160583	0.51499	T	0.286232	0.65902	T	-0.0204679	0.48787	T	0.20295	0.83288	D	0.127009606606211	0.15103	T	0.609039	0.23055	T	0.6991818	0.78012	0.5696994	0.75085	0.6991818	0.78013	0.5696994	0.75086	-11.551	0.82595	D	.	.	0.871	0.80947	P	.	.	2.823332	0.37201	20.4	0.96672777143995958	0.30668	0.00358	0.01837	N	AEFBHCI	0.177665	0.30491	N	0.354605625575247	0.58984	4.07415	0.0960950803817417	0.44351	2.718609	0.488696173875219	0.20844	0.615465	0.37627	0	0.588015	0.36545	0	0.463624	0.06942	0	0.655142	0.61905	0	.	.	2.01	2.01	0.25568	6.422000	0.73266	.	.	0.545000	0.25583	1.000000	0.71638	0.000000	0.08366	0.988000	0.63387	0.0:0.0:0.0:1.0	8.021	0.29573	906	0.23090	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1614.98	68	chr19	9758010	.	T	A	1614.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.95;DP=871;ExcessHet=0.0000;FS=2.369;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.80;ReadPosRankSum=-7.770e-01;SOR=0.950	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1191	20	0	1	0
chr19	9758284	9758284	G	T	exonic	ZNF846	.	nonsynonymous SNV	ZNF846:NM_001353798:exon5:c.C406A:p.Q136K	.	.	405	1114	3	0	0	3	0.00134469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	B	0.017	B	.	.	1.000	N	0.85	L	3.2	T	-0.934	T	0.010	T	0.04	0.671	7.592	-2.02	-0.469	-10.144	4.437	0.011	0.00097886745271	0.0009	0.00119808	0.0003	0.0033	8.651e-05	0	0	0.0001	0	0	0.0003363	52	154602	rs182871540	0.0002	0.0002	0.0002	0.0002	0.0044	0.0002	0.0002	0.0038	0.0036	0.0044	0.0002	0	0	0	0.0029	7.194e-05	0.0006	2.319e-05	0.0010	0.0011	0.0011	0.0010	0.0035	0.0009	0.0008	0.0031	0.0029	0.0035	0	0.0001	0	0	0	0	0.0001	0.0010	0	0.454	0.08891	T	0.124	0.35455	T	0.023	0.18885	B	0.017	0.18140	B	.	.	.	.	1	0.08975	N	0.565	0.15224	N	2.26	0.17596	T	-0.33	0.12472	N	0.092	0.07125	-0.9341	0.43530	T	0.010	0.03582	T	8	0.006107986	0.00137	T	9.79E-4	0.01026	T	0.011	0.01250	.	.	0.117506650769	0.11410	0.014851344574885825	0.01442	0.0148240308815	0.01408	0.304430782795	0.11065	T	0.001032	0.00564	T	-0.745748	0.00019	T	-0.844136	0.01038	T	0.0150262008645624	0.00323	T	0.29517	0.10821	T	0.041941877	0.06271	0.04298797	0.05245	0.041941877	0.06271	0.04298797	0.05244	-6.171	0.47687	T	.	.	0.626	0.69954	P	.;.;.	.;.;.	0.187358	0.05738	2.184	0.72009358512007882	0.09824	0.00006	0.00120	N	AEFDGBHCI	0.033337	0.03933	N	-1.43370730371528	0.02348	0.103581	-1.56290727170255	0.01888	0.08610339	0.00418278900172782	0.10449	0.553676	0.25195	0	0.588015	0.36545	0	0.463624	0.06942	0	0.567892	0.33627	0	.	.	1.18	-2.02	0.06981	-5.735000	0.00122	.	.	0.557000	0.28285	0.000000	0.06391	0.000000	0.08366	0.816000	0.38450	0.0:0.2443:0.5079:0.2478	4.437	0.10978	906	0.23090	.;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1436.98	95	chr19	9758284	.	G	T	1436.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=813;ExcessHet=0.0000;FS=0.785;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.13;ReadPosRankSum=-1.777e+00;SOR=0.865	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1191	20	0	1	0
chr19	9854801	9854801	G	C	exonic	OLFM2	.	nonsynonymous SNV	OLFM2:NM_001304348:exon5:c.C516G:p.D172E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.000	D	1.000	D	2.205	M	-2.4	D	0.529	D	0.766	D	0.191	3.487	17.84	3.42	1.086	0.954	10.135	0.597	0.0792427157215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.012	0.63918	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999582	0.47691	D	2.47	0.71715	M	-2.4	0.88455	D	-2.05	0.47008	N	0.312	0.38438	0.529	0.90956	D	0.766	0.92023	D	9	0.6964848	0.72176	D	0.079243	0.73189	D	0.597	0.84019	0.571	0.69431	0.616309752723	0.61320	.	.	1.45215106663	0.86188	0.682164549828	0.64580	T	0.374173	0.82387	T	0.00502319	0.52346	T	-0.230561	0.51717	T	0.97174608707428	0.69433	D	0.971303	0.89644	D	0.22800027	0.45511	0.21998447	0.46757	0.22800027	0.45511	0.21998447	0.46756	-8.617	0.65202	D	.	.	0.696	0.81000	P	.;.;.	.;.;.	3.698712	0.52737	23.3	0.99704958505600771	0.80936	0.86476	0.45764	D	AEFDBI	0.465642	0.51363	N	0.404831549550597	0.61688	4.373243	0.331328797368957	0.57388	3.904456	0.053917881777599	0.14954	0.650006	0.45971	0	0.550933	0.16991	0	0.606735	0.37207	0	0.567892	0.33627	0	.	.	4.45	3.42	0.38259	0.721000	0.25580	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0978:0.0:0.9022:0.0	10.135	0.41876	878	0.29785	Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07895	319.99	101	chr19	9854801	.	G	C	319.99	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.842e+00;DP=2362;ExcessHet=0.3300;FS=191.227;InbreedingCoeff=-0.1394;MLEAC=3;MLEAF=0.079;MQ=60.00;MQRankSum=0.00;QD=0.88;ReadPosRankSum=1.04;SOR=11.722	GT:AD:DP:GQ:PL	0/0:92,0:92:1:0,1,1874	16	0	3	2
chr19	9980853	9980853	G	A	exonic	COL5A3	.	nonsynonymous SNV	COL5A3:NM_015719:exon34:c.C2512T:p.R838C,	.	.	429	1092	1	0	0	1	0.000457666	.	.	2443139	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.000	D	1.000	D	2.695	M	-3.31	D	0.836	D	0.878	D	0.651	1.946	12.46	2.15	0.283	2.549	11.032	0.783	0.568561525278	0.0002	.	8.699e-05	0.0002	0	0	0	0.0001	0	6.697e-05	5.82e-05	9	154602	rs145443545	4.802e-05	4.994e-05	5.459e-05	4.138e-05	0.0005	3.871e-05	3.55e-05	0.0001	7.773e-05	6.009e-05	2.259e-05	0	0	0	0.0005	5.044e-05	8.308e-05	3.501e-05	0.0001	0.0001	0.0001	9.417e-05	0.0002	6.516e-05	5.327e-05	0.0001	9.929e-05	0.0002	0	0	0	0	0	0	8.828e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000004	0.62929	D	0.000000	1	0.81001	D	2.59	0.75718	M	-3.31	0.93835	D	-7.01	0.93764	D	0.729	0.73015	0.836	0.94858	D	0.878	0.95951	D	10	0.94948363	0.94281	D	0.568562	0.96090	D	0.783	0.92787	.	.	0.8566438679	0.85526	0.36247351244803744	0.36161	0.142806008702	0.16110	0.617283403873	0.55345	T	0.417369	0.77004	T	0.0649516	0.60229	T	0.103831	0.77161	D	0.605262398719788	0.36609	D	0.978136	0.92287	D	0.7826594	0.82817	0.5928231	0.76368	0.7826594	0.82819	0.5928231	0.76369	-11.17	0.80582	D	.	.	0.192	0.41109	B	.	.	3.869543	0.56167	23.7	0.99130296484611524	0.53249	0.95130	0.63548	D	AEFDBI	0.564884	0.57149	D	0.315821900130515	0.56959	3.861778	0.171472736630509	0.48292	3.046993	0.426470940954278	0.20334	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.37	2.15	0.26590	1.405000	0.34243	.	.	0.526000	0.24426	0.628000	0.27982	1.000000	0.68203	0.661000	0.32996	0.0:0.0:0.6642:0.3358	11.032	0.46998	909	0.22467	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	709.98	38	chr19	9980853	.	G	A	709.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=860;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.51;ReadPosRankSum=0.781;SOR=0.685	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr19	9991816	9991816	G	A	exonic	COL5A3	.	nonsynonymous SNV	COL5A3:NM_015719:exon23:c.C1919T:p.P640L,	.	.	424	1076	22	0	0	22	0.0101196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.999	D	0.859	P	0.000	D	1.000	D	2.565	M	-3.82	D	1.001	D	0.904	D	0.482	2.201	13.32	4.66	2.124	6.175	15.062	0.683	0.296443081361	0.0007	0.00119808	0.0010	9.666e-05	0.0003	0	0.0002	0.0010	0	0.0036	0.0009444	146	154602	rs151176273	0.0008	0.0008	0.0007	0.0009	0.0037	0.0008	0.0007	0.0025	0.0023	0.0002	0.0002	3.897e-05	0	3.761e-05	0.0037	0.0008	0.0008	0.0027	0.0007	0.0007	0.0007	0.0007	0.0058	0.0006	0.0005	0.0041	0.0036	0.0001	0	0.0001	0	0	0	0.0034	0.0010	0.0014	0.0058	0.054	0.38633	T	0.018	0.59732	D	0.999	0.77913	D	0.859	0.61184	P	0.000001	0.62929	D	0.000000	0.999999	0.58761	D	2.86	0.83026	M	-3.82	0.95761	D	-7.23	0.94300	D	0.584	0.60495	1.001	0.97203	D	0.904	0.96809	D	10	0.025926322	0.00773	T	0.296443	0.90738	D	0.683	0.88396	.	.	0.804351698535	0.80252	0.29623743940503844	0.29536	0.105708572132	0.11951	0.653525233269	0.60486	T	0.408938	0.76412	T	-0.121212	0.32925	T	0.0488077	0.73506	D	0.200539408267616	0.20445	T	0.794521	0.43681	T	0.3363261	0.55986	0.39785033	0.64389	0.3363261	0.55986	0.39785033	0.64389	-7.423	0.57066	T	.	.	0.079	0.07365	B	.	.	4.291821	0.65461	24.8	0.9956156682471784	0.71831	0.01522	0.05020	N	AEFBCI	0.693747	0.65298	D	0.573008536735112	0.71492	5.659333	0.477590354732156	0.66506	4.961174	0.43948931293767	0.20441	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.66	4.66	0.57857	6.435000	0.73336	.	.	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.795000	0.37519	0.0:0.0:1.0:0.0	15.062	0.71625	918	0.19598	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1468.98	35	chr19	9991816	.	G	A	1468.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=856;ExcessHet=0.0000;FS=0.806;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.32;ReadPosRankSum=1.23;SOR=0.764	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1375	20	0	1	0
chr19	10089677	10089677	G	C	exonic	SHFL	.	nonsynonymous SNV	SHFL:NM_001308277:exon4:c.G216C:p.K72N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.447	B	0.21	B	0.603	N	0.969	N	0.345	N	.	.	-1.020	T	0.048	T	0.129	0.766	8.053	-3.02	-0.358	-0.269	8.877	0.060	0.00835452894133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.23e-05	0.0007	0.0001	8.388e-05	0.0001	7.937e-05	7.411e-05	9.867e-05	9.266e-05	3.012e-05	0	3.881e-05	2.554e-05	0	0	0.0001	5.025e-05	0	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.096	0.31088	T	0.144	0.92824	T	.	.	.	.	.	.	0.602986	0.10940	N	0.778374	0.969116	0.25769	N	.	.	.	.	.	.	-2.3	0.51157	N	0.451	0.54409	-1.0203	0.23616	T	0.048	0.20355	T	9	0.11713013	0.22113	T	0.008355	0.22105	T	0.060	0.17295	0.149	0.05238	0.257342827899	0.25358	0.7671544330350812	0.76664	1.27764482569	0.82445	.	.	.	.	.	.	-0.228678	0.16824	T	-0.566257	0.15794	T	0.318100303411484	0.25744	T	0.765923	0.40183	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.583	0.81635	P	.;.;.;.;.	.;.;.;.;.	0.889740	0.12634	9.157	0.94812326393072077	0.25574	0.63549	0.32124	D	AEFDBCI	0.495824	0.53103	N	-0.944719638248053	0.09811	0.4660345	-0.912159081172477	0.11806	0.6037553	0.999561478255562	0.40425	0.706298	0.61202	0	0.697927	0.68747	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.07	-3.02	0.05116	-0.259000	0.08742	0.264000	0.16579	-0.855000	0.02678	0.979000	0.35152	0.967000	0.29559	0.342000	0.25479	0.5074:0.0:0.4926:0.0	8.877	0.34512	883	0.28872	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	207.46	82	chr19	10089677	.	G	C	207.46	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-3.463e+00;DP=2074;ExcessHet=1.7912;FS=272.777;InbreedingCoeff=-0.1689;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.37;ReadPosRankSum=0.605;SOR=12.318	GT:AD:DP:GQ:PL	0/1:70,36:106:94:94,0,1359	15	0	6	0
chr19	10093450	10093450	C	T	exonic	ANGPTL6	.	nonsynonymous SNV	ANGPTL6:NM_001321411:exon5:c.G1121A:p.R374H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.47	M	-1.22	T	0.668	D	0.711	D	0.624	4.713	26.2	4.47	2.360	2.428	16.118	0.725	0.152227399701	7.7e-05	.	1.649e-05	9.63e-05	8.639e-05	0	0	0	0	0	1.29e-05	2	154602	rs141758652	1.163e-05	1.163e-05	6.806e-06	1.65e-05	0.0002	7.08e-06	5.79e-06	8.35e-06	3.88e-06	0	4.472e-05	0	5.038e-05	0	0.0002	9.892e-06	1.656e-05	0	1.314e-05	1.313e-05	2.57e-05	0	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.007	0.69154	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.000000	1	0.81001	D	3.67	0.94359	H	-1.22	0.78752	T	-4.52	0.78302	D	0.595	0.61426	0.668	0.92772	D	0.711	0.90086	D	10	0.76511407	0.76643	D	0.152227	0.83368	D	0.725	0.90324	.	.	0.855464098089	0.85406	0.6731081414823962	0.67248	.	.	0.566321253777	0.48158	T	0.134576	0.76200	T	-0.0103794	0.50212	T	-0.0160172	0.69292	D	0.814988203550835	0.47405	D	0.937606	0.76517	D	0.8520877	0.87490	0.71676236	0.83281	0.8520877	0.87492	0.71676236	0.83282	-9.943	0.73570	D	.	.	0.363	0.62489	A	.;.;.	.;.;.	5.148056	0.86218	28.8	0.99953693462403714	0.99963	0.25310	0.22660	N	AEFDGBHCI	0.863287	0.78179	D	0.733928169279595	0.81858	7.62129	0.625978405126618	0.76832	6.564289	0.999999999999923	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.47	4.47	0.53770	1.614000	0.36522	4.889000	0.45745	0.545000	0.25583	0.920000	0.31959	1.000000	0.68203	0.954000	0.50415	0.0:1.0:0.0:0.0	16.118	0.81133	888	0.27761	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1821.98	33	chr19	10093450	.	C	T	1821.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.65;DP=833;ExcessHet=0.0000;FS=1.295;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.31;ReadPosRankSum=0.013;SOR=0.864	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1391	20	0	1	0
chr19	10093793	10093793	G	C	exonic	ANGPTL6	.	stopgain	ANGPTL6:NM_001321411:exon4:c.C851G:p.S284X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	.	.	.	.	0.606	N	1.000	A	.	.	.	.	.	.	.	.	.	4.683	25.9	2.45	0.565	2.661	3.864	.	.	0.0007	.	0.0004	0	0.0003	0	0	0.0006	0	0.0004	0.0003428	53	154602	rs201622589	0.0006	0.0006	0.0006	0.0007	0.0008	0.0006	0.0006	0.0007	0.0007	5.974e-05	0.0002	0	0	5.632e-05	0.0002	0.0008	0.0006	0.0006	0.0005	0.0005	0.0005	0.0005	0.0009	0.0004	0.0003	0.0007	0.0007	0.0001	0	0	0	0	0.0003	0.0032	0.0009	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	0.605511	0.10916	N	0.814561	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.72	0.72209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0716706	0.61052	D	0.305546	0.88452	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive|Recessive;Recessive|Recessive	High|High;High|High	8.039473	0.97115	37	0.98929737912966609	0.48732	0.85453	0.44587	D	ALL	0.184969	0.31230	N	0.427027334007894	0.62913	4.515319	0.106298636989398	0.44870	2.760491	0.999965037895043	0.48965	0.67177	0.52595	0	0.702456	0.74545	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	4.57	2.45	0.28953	4.661000	0.61213	6.636000	0.56168	0.618000	0.50648	1.000000	0.71638	0.999000	0.35428	0.498000	0.28972	0.1893:0.0:0.5191:0.2916	3.864	0.08517	894	0.26265	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2123.98	33	chr19	10093793	.	G	C	2123.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.370;DP=848;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.945;SOR=0.743	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1391	20	0	1	0
chr19	10110993	10110993	G	A	exonic	PPAN;PPAN-P2RY11	.	nonsynonymous SNV	PPAN:NM_001346141:exon11:c.G1091A:p.R364Q	.	.	418	1097	7	0	0	7	0.00318037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.023	B	0.001	B	.	.	1.000	N	0.345	N	1.56	T	-1.061	T	0.058	T	0.246	-0.990	0.275	-0.093	-1.381	1.095	.	0.046	.	0.0069	0.00199681	0.0084	0.0008	0.0022	0	0.0161	0.0130	0.0067	0.0004	0.0078654	1216	154602	rs74406884	0.0081	0.0081	0.0082	0.0080	0.0087	0.0080	0.0079	0.0085	0.0085	0.0017	0.0029	0.0272	2.519e-05	0.0139	0.0029	0.0087	0.0086	0.0005	0.0072	0.0072	0.0068	0.0075	0.0102	0.0068	0.0067	0.0096	0.0093	0.0014	0	0.0046	0.0274	0	0.0145	0	0.0102	0.0062	0.0004	0.568	0.17126	T	0.337	0.18178	T	0.014	0.16867	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	1.51	0.61677	T	-0.28	0.11547	N	0.07	0.09349	-1.0609	0.11532	T	0.058	0.24167	T	8	0.0029360354	0.00047	T	.	.	.	0.046	0.12618	.	.	0.0846915920261	0.08053	0.14836677046078955	0.14758	0.0774941032052	0.08717	.	.	.	0.04347	0.26512	T	-0.511701	0.00491	T	-0.495475	0.22818	T	0.00144275889447176	0.00014	T	0.444656	0.12799	T	0.026290843	0.01669	0.05348595	0.09018	0.026290843	0.01668	0.05348595	0.09018	-2.205	0.04064	T	.	.	0.092	0.14155	B	.;.;.;.	.;.;.;.	0.693041	0.10619	7.319	0.75895248164057005	0.11253	0.02021	0.06069	N	AEFDBCI	0.054771	0.09988	N	-1.64371025404103	0.01062	0.04607651	-1.74030537857526	0.00970	0.04346208	0.999999540168426	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	0.046	-0.093	0.12988	0.480000	0.21954	-1.210000	0.06016	-1.302000	0.01243	0.005000	0.17040	0.957000	0.29195	0.001000	0.02609	.	.	.	929	0.16858	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1842.98	34	chr19	10110993	.	G	A	1842.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.11;DP=874;ExcessHet=0.0000;FS=0.687;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.11;ReadPosRankSum=-1.377e+00;SOR=0.614	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr19	10252604	10252604	C	T	exonic	MRPL4	.	nonsynonymous SNV	MRPL4:NM_015956:exon3:c.C178T:p.R60C	.	.	428	1079	15	0	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.998	D	0.864	P	0.010	N	1.000	N	1.5	L	.	.	-1.072	T	0.080	T	0.356	3.573	18.21	1.37	0.650	0.602	3.669	0.124	0.0172132972635	0.0036	0.00179712	0.0035	0.0007	0.0008	0	0.0040	0.0049	0.0011	0.0034	0.0034993	541	154602	rs45520838	0.0037	0.0037	0.0037	0.0038	0.0095	0.0037	0.0036	0.0075	0.0068	0.0007	0.0010	0.0002	2.52e-05	0.0032	0.0095	0.0042	0.0033	0.0041	0.0031	0.0031	0.0033	0.0028	0.0050	0.0028	0.0027	0.0046	0.0044	0.0009	0	0.0015	0	0	0.0041	0.0034	0.0050	0.0019	0.0033	0.032	0.44694	D	0.053	0.70582	T	0.989	0.73220	D	0.613	0.61462	P	0.010366	0.29953	N	0.341831	1	0.08975	N	1.61	0.41143	L	.	.	.	-2.31	0.51811	N	0.464	0.51494	-1.0718	0.09022	T	0.080	0.31735	T	9	0.008611172	0.00195	T	0.017213	0.38815	T	0.124	0.34239	.	.	0.583897100485	0.58062	0.4706424267449133	0.46983	1.03653925139	0.75629	0.61252951622	0.54674	T	0.029491	0.24760	T	-0.420644	0.01694	T	-0.374252	0.36393	T	0.0215351933068651	0.00857	T	0.813919	0.47860	T	0.29041508	0.52032	0.15465458	0.36287	0.29041508	0.52032	0.15465458	0.36286	-5.716	0.46530	T	.	.	0.103	0.26669	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.137151	0.61958	24.4	0.99674703710335233	0.78846	0.05532	0.11425	N	AEFDBHCIJ	0.195435	0.32247	N	-0.414936604442147	0.24946	1.350591	-0.591908659756271	0.19703	1.058312	0.99999936486214	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.52208	0.10781	0	0.638787	0.57140	0	.	.	4.89	1.37	0.21200	0.431000	0.21163	2.135000	0.30806	-0.991000	0.01849	0.005000	0.17040	1.000000	0.68203	0.007000	0.07825	0.3659:0.443:0.0:0.1911	3.669	0.07802	546	0.72524	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3767.11	35	chr19	10252604	.	C	T	3767.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.065;DP=994;ExcessHet=0.1072;FS=9.682;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=1.21;SOR=0.957	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1135	19	0	2	0
chr19	10284465	10284465	G	A	exonic	ICAM1	.	nonsynonymous SNV	ICAM1:NM_000201:exon5:c.G988A:p.V330M,	.	.	0	1508	13	1	0	15	0.00494886	.	.	727843	not_provided|ICAM1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.998	D	0.913	D	0.034	N	1.000	N	2.43	M	2.78	T	-1.118	T	0.059	T	0.333	2.798	15.32	1.76	1.068	1.025	5.135	0.078	0.00794922490352	0.0016	0.00159744	0.0021	0	0.0012	0	0.0003	0.0023	0.0045	0.0050	0.0018758	290	154602	rs146134321	0.0015	0.0015	0.0014	0.0017	0.0055	0.0015	0.0014	0.0040	0.0038	0.0002	0.0010	0.0036	0	0.0002	0.0055	0.0014	0.0017	0.0043	0.0013	0.0013	0.0013	0.0013	0.0043	0.0011	0.0011	0.0029	0.0024	0.0002	0	0.0008	0.0046	0.0002	0.0002	0.0034	0.0019	0.0028	0.0043	0.001	0.78490	D	0.002	0.79402	D	0.987	0.73220	D	0.913	0.64886	D	0.033892	0.24840	N	0.192276	0.999989	0.18198	N	2.145	0.60081	M	2.78	0.11298	T	-2.69	0.58733	D	0.344	0.38541	-1.1178	0.02476	T	0.059	0.24760	T	10	0.006626159	0.00150	T	0.007949	0.21084	T	0.078	0.22779	.	.	0.608747212676	0.60560	0.39170349706882157	0.39085	0.652655157273	0.58445	0.453022837639	0.32357	T	0.148967	0.48776	T	-0.472956	0.00815	T	-0.451467	0.27535	T	0.0384687512636429	0.03416	T	0.775622	0.40735	T	0.4935675	0.66715	0.3004436	0.56078	0.4935675	0.66716	0.3004436	0.56077	-7.803	0.59720	D	.	.	0.275	0.51165	B	.;.	.;.	2.936750	0.39031	20.9	0.99699861672834467	0.80522	0.42960	0.26993	N	AEFDBCI	0.137429	0.25841	N	-0.000210577087281644	0.41845	2.510376	-0.21386782100428	0.31037	1.752842	0.266614902363048	0.18848	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	4.1	1.76	0.23776	1.339000	0.33489	4.162000	0.42217	0.676000	0.76740	0.820000	0.29989	1.000000	0.68203	0.003000	0.05239	0.1171:0.2129:0.6701:0.0	5.135	0.14262	592	0.68746	Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1983.98	40	chr19	10284465	.	G	A	1983.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.150e-01;DP=953;ExcessHet=0.0000;FS=1.984;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.56;ReadPosRankSum=0.445;SOR=0.663	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1194	20	0	1	0
chr19	10288065	10288065	G	A	exonic	ICAM4	.	nonsynonymous SNV	ICAM4:NM_001039132:exon3:c.G700A:p.V234I,	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.168	B	0.013	B	0.003	N	0.999	N	.	.	1.85	T	-1.017	T	0.048	T	0.159	2.046	12.80	1.62	0.558	-0.088	5.138	0.048	0.00693435395347	.	.	1.648e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs370615268	1.505e-05	1.505e-05	8.167e-06	2.2e-05	0.0002	9.85e-06	8.41e-06	5.395e-05	4.042e-05	0	0	0	5.038e-05	0	0.0002	5.396e-06	6.623e-05	0.0001	1.314e-05	1.313e-05	0	2.69e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.003448	0.00962	N	4.260870	1	0.21473	N	.	.	.	1.85	0.24472	T	0.02	0.06739	N	0.126	0.11912	-1.0168	0.24755	T	0.048	0.20513	T	9	0.054804623	0.05891	T	0.006934	0.18345	T	0.048	0.13305	0.202	0.11659	0.0482279557977	0.04254	0.09562541607459252	0.09494	0.554696742166	0.52201	0.315724611282	0.12774	T	.	.	.	-0.386583	0.02830	T	-0.556407	0.16716	T	0.484380602836609	0.32058	T	0.429357	0.11628	T	.	.	.	.	.	.	.	.	-4.331	0.28610	T	.	.	0.106	0.19720	B	.	.	1.018124	0.13976	10.54	0.96479692078929125	0.29967	0.11809	0.16875	N	ALL	0.033365	0.03942	N	-0.947452924547697	0.09749	0.4628218	-1.0258277621542	0.09219	0.457422	0.999999999996826	0.74766	0.676563	0.55306	0	0.609123	0.50646	0	0.673471	0.61138	0	0.620976	0.48614	0	.	.	3.77	1.62	0.22817	-0.083000	0.11250	0.216000	0.16018	-0.187000	0.09635	0.000000	0.06391	0.009000	0.19889	0.003000	0.05239	0.0:0.6527:0.2278:0.1196	5.138	0.14274	600	0.68026	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1172.98	35	chr19	10288065	.	G	A	1172.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.94;DP=822;ExcessHet=0.0000;FS=0.755;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.73;ReadPosRankSum=0.915;SOR=0.576	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,937	20	0	1	0
chr19	10308258	10308258	G	A	exonic	ZGLP1	.	nonsynonymous SNV	ZGLP1:NM_001103167:exon1:c.C424T:p.P142S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.998	D	.	.	0.989	D	0.895	L	-4.95	D	1.046	D	0.938	D	0.317	4.138	21.4	4.65	2.302	5.177	13.374	0.464	0.132270186589	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1352200944	1.176e-05	1.163e-05	1.237e-05	1.114e-05	1.54e-05	7.16e-06	5.86e-06	9.38e-06	7.67e-06	0	0	0	0	0	0	1.54e-05	0	0	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.989261	0.40919	D	1.24	0.30952	L	-5.15	0.98780	D	-3.46	0.67705	D	0.259	0.35194	1.046	0.98037	D	0.938	0.97944	D	9	0.34129983	0.51183	T	0.13227	0.81458	D	0.464	0.76023	0.228	0.15406	0.809714403538	0.80793	0.8380481178121914	0.83764	0.785215165238	0.65485	0.390613794327	0.23756	T	0.441251	0.78586	T	0.169419	0.71069	D	0.00558177	0.70698	D	0.894662838612447	0.54609	D	0.630737	0.24588	T	0.26005355	0.49060	0.33166513	0.59023	0.26005355	0.49060	0.33166513	0.59022	-3.345	0.14325	T	.	.	0.213	0.44188	B	.;.	.;.	3.268190	0.44723	22.0	0.99908684816022186	0.97875	0.95472	0.64857	D	AEFBI	0.493223	0.52953	N	0.356817678251477	0.59101	4.086787	0.307521036049725	0.55979	3.760981	0.224461452063748	0.18393	0.675385	0.55134	0	0.588066	0.40923	0	0.693117	0.63056	0	0.567892	0.33627	0	.	.	4.65	4.65	0.57626	4.853000	0.62610	8.568000	0.77594	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.020000	0.11549	0.0:0.0:1.0:0.0	13.374	0.60172	641	0.64016	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1443.98	33	chr19	10308258	.	G	A	1443.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.37;DP=813;ExcessHet=0.0000;FS=0.850;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.40;ReadPosRankSum=0.349;SOR=0.883	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1549	20	0	1	0
chr19	10338838	10338838	T	C	exonic	ICAM3	.	nonsynonymous SNV	ICAM3:NM_001320605:exon2:c.A187G:p.I63V	.	.	427	1086	9	0	0	9	0.00412655	.	.	727847	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.83	T	0.001	B	0.013	B	0.766	N	0.997	N	0.835	L	2.54	T	-0.934	T	0.004	T	0.122	0.090	4.483	-5.54	-1.088	-0.532	8.062	0.008	.	0.0009	0.00938498	0.0077	0.0004	0.0003	0.0495	0.0354	0.0028	0.0166	0.0035	0.0067916	1050	154602	rs17697947	0.0043	0.0043	0.0043	0.0044	0.0588	0.0042	0.0042	0.0569	0.0560	0.0002	0.0007	0.0010	0.0588	0.0369	0.0026	0.0013	0.0046	0.0029	0.0058	0.0058	0.0037	0.0079	0.0466	0.0054	0.0053	0.0418	0.0400	0.0003	0	0.0017	0.0003	0.0466	0.0439	0	0.0015	0.0047	0.0039	0.712	0.04020	T	0.819	0.03840	T	0.001	0.07471	B	0.013	0.16460	B	0.766272	0.09582	N	0.853625	1	0.22763	N	1.26	0.31868	L	2.54	0.13916	T	-0.53	0.16393	N	0.06	0.03175	-0.9342	0.43515	T	0.004	0.01435	T	10	0.0026617646	0.00041	T	.	.	.	0.008	0.00669	.	.	0.128392430309	0.12331	0.32726545291155884	0.32639	0.366126919708	0.38193	0.387051075697	0.23253	T	0.03386	0.23088	T	-0.693733	0.00040	T	-0.720596	0.04767	T	0.00489653433331906	0.00053	T	0.50435	0.15896	T	0.101566344	0.23993	0.04078051	0.04486	0.101566344	0.23992	0.04078051	0.04486	-2.093	0.03554	T	.	.	0.136	0.29533	B	.;.	.;.	-0.723412	0.01267	0.066	0.25413303159105682	0.01170	0.04019	0.09450	N	AEFBCIJ	0.052109	0.09270	N	-1.52066017625794	0.01714	0.07501812	-1.57356518576762	0.01819	0.0828294	0.999993280911081	0.74766	0.643511	0.44296	0	0.672317	0.65289	0	0.688494	0.62686	0	0.567892	0.33627	0	.	.	5.66	-5.54	0.02343	-0.529000	0.06273	-1.347000	0.05657	-0.226000	0.07819	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.218:0.5242:0.2578	8.062	0.29799	758	0.50837	Intercellular adhesion molecule, N-terminal|Immunoglobulin subtype;Intercellular adhesion molecule, N-terminal	.	.	.	.	rs17697947	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1619.98	35	chr19	10338838	.	T	C	1619.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.739;DP=1288;ExcessHet=0.0000;FS=5.030;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=-5.030e-01;SOR=1.148	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr19	10350910	10350910	T	C	exonic	TYK2	.	nonsynonymous SNV	TYK2:NM_001385197:exon24:c.A3377G:p.E1126G	Immunodeficiency 35, Autosomal recessive	.	1	1402	108	11	0	130	0.0443081	.	.	468200	not_specified|Immunodeficiency_35	MedGen:CN169374|MONDO:MONDO:0012682,MedGen:C1969086,OMIM:611521,Orphanet:331226	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.23	T	0.0	B	0.006	B	0.540	N	1.000	N	0.565	N	-1.71	D	-1.009	T	0.090	T	0.297	1.773	11.89	5.68	2.161	2.310	13.877	0.031	.	0.0026	0.00658946	0.0067	0.0008	0.0019	0.0001	0.0017	0.0038	0.0088	0.0311	0.0060025	928	154602	rs55886939	0.0039	0.0039	0.0030	0.0049	0.0306	0.0039	0.0038	0.0296	0.0292	0.0004	0.0016	0.0039	2.519e-05	0.0019	0.0248	0.0022	0.0052	0.0306	0.0032	0.0032	0.0029	0.0036	0.0294	0.0030	0.0029	0.0255	0.0240	0.0005	0	0.0036	0.0043	0.0002	0.0021	0.0272	0.0032	0.0047	0.0294	0.02	0.49613	D	0.213	0.26714	T	0.0	0.02946	B	0.006	0.12133	B	0.540135	0.11545	N	0.744173	0.999403	0.21520	N	0.65	0.16133	N	-1.71	0.83157	D	-1.88	0.43906	N	0.15	0.16028	-1.0092	0.27167	T	0.090	0.34683	T	10	0.0062526166	0.00141	T	.	.	.	0.224	0.52174	.	.	0.832625569796	0.83103	0.2781677214498707	0.27729	0.262748586861	0.28834	0.308513373137	0.11682	T	0.356059	0.72297	T	-0.352291	0.04585	T	-0.255821	0.49241	T	0.020755482438709	0.00775	T	0.19768	0.06085	T	0.27860284	0.50913	0.22806673	0.47836	0.33965775	0.56252	0.24295966	0.49728	-4.006	0.23893	T	.	.	0.081	0.08320	B	.;.;.	.;.;.	2.704222	0.35333	19.87	0.99295829267216951	0.58433	0.92413	0.55654	D	AEFBHI	0.307691	0.41449	N	0.0419748116485306	0.43773	2.663794	0.128050775842209	0.45991	2.852466	0.0473693968275403	0.14727	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	1.646000	0.36865	4.984000	0.46482	0.588000	0.31329	0.974000	0.34632	1.000000	0.68203	0.388000	0.26514	0.0:0.0:0.0:1.0	13.877	0.63158	773	0.48803	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	9296.9	33	chr19	10350910	.	T	C	9296.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-5.500e-02;DP=1162;ExcessHet=0.0082;FS=0.543;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=18.41;ReadPosRankSum=0.327;SOR=0.647	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1082	18	1	2	0
chr19	10459733	10459733	G	A	exonic	PDE4A	.	nonsynonymous SNV	PDE4A:NM_006202:exon5:c.G622A:p.V208I	.	.	.	.	.	.	.	.	.	.	.	2279378	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.999	D	0.977	D	0.000	D	1.000	D	2.125	M	-0.43	T	-0.079	T	0.456	T	0.42	3.594	18.30	4.75	2.480	6.368	15.266	0.212	0.0475897646642	7.7e-05	0.000199681	6.745e-05	0	0	0	0	1.523e-05	0	0.0005	5.82e-05	9	154602	rs142235107	4.038e-05	4.036e-05	2.451e-05	5.642e-05	0.0005	3.181e-05	2.912e-05	0.0003	0.0003	0	0	0	0	0	0.0002	1.53e-05	3.314e-05	0.0005	2.626e-05	2.624e-05	1.285e-05	4.028e-05	0.0002	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0.0002	0.054	0.39097	T	0.066	0.48080	T	0.718	0.77913	P	0.336	0.73820	B	0.000001	0.84330	D	0.000000	0.999986	0.58761	D	2.145	0.60081	M	-0.43	0.69657	T	-0.82	0.22508	N	0.57	0.59308	-0.0787	0.80582	T	0.456	0.78808	T	10	0.16647822	0.31087	T	0.04759	0.62988	D	0.212	0.50341	.	.	0.538494540062	0.53500	.	.	.	.	0.734068214893	0.72101	T	0.153741	0.49472	T	-0.213336	0.18911	T	-0.20796	0.53891	T	0.176077961921692	0.18984	T	0.955704	0.83186	D	0.4807655	0.65947	0.25147405	0.50758	0.4807655	0.65947	0.25147405	0.50757	-13.121	0.90940	D	.	.	0.116	0.26731	B	.;.;.;.;.	.;.;.;.;.	4.536314	0.71268	25.6	0.9980637308191197	0.89085	0.92662	0.56241	D	AEFDBHCI	0.773202	0.70729	D	0.401077886859981	0.61482	4.349894	0.45873748620924	0.65281	4.803892	0.845450215385615	0.24945	0.634777	0.41761	0	0.643519	0.57511	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.75	4.75	0.59954	6.677000	0.74337	11.808000	0.96852	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	15.266	0.73364	730	0.54327	.;3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|HD/PDEase domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2452.98	40	chr19	10459733	.	G	A	2452.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.407;DP=907;ExcessHet=0.0000;FS=4.951;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=-1.087e+00;SOR=0.826	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1231	20	0	1	0
chr19	10467273	10467273	G	T	exonic	PDE4A	.	nonsynonymous SNV	PDE4A:NM_006202:exon10:c.G1596T:p.E532D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.571	P	0.21	B	0.000	U	0.987	N	0.345	N	-0.01	T	-0.887	T	0.173	T	0.168	2.320	13.71	3.2	2.126	-0.081	10.166	0.118	0.0322613022593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.269	0.23707	T	0.189	0.38591	B	0.073	0.37304	B	0.000010	0.00162	U	28.402500	0.998344	0.24560	N	1.445	0.36358	L	-0.3	0.68030	T	0.22	0.04694	N	0.032	0.02179	-0.8867	0.49215	T	0.173	0.51500	T	10	0.12187785	0.23111	T	0.032261	0.54132	D	0.118	0.32913	0.238	0.16912	0.361733483669	0.35779	.	.	.	.	0.273583710194	0.06613	T	0.028129	0.20444	T	-0.150923	0.28168	T	-0.454567	0.27194	T	0.390442758798599	0.28581	T	0.784022	0.42156	T	0.050866306	0.09255	0.06335177	0.12537	0.050866306	0.09254	0.06335177	0.12537	-4.581	0.34216	T	.	.	0.127	0.27069	B	.;.;.;.;.	.;.;.;.;.	0.524622	0.08933	5.714	0.97961140386751311	0.37180	0.23959	0.22242	N	AEFBI	0.162658	0.28885	N	-0.745432212079319	0.14758	0.7378632	-0.785703008905122	0.14846	0.7778122	0.796328771269426	0.24106	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.2	3.2	0.35826	-0.379000	0.07494	-0.108000	0.11862	0.616000	0.49467	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.0:1.0:0.0	10.166	0.42057	707	0.57054	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2979.98	210	chr19	10467273	.	G	T	2979.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.142e+00;DP=910;ExcessHet=0.0000;FS=1.071;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.19;ReadPosRankSum=-7.320e-01;SOR=0.725	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1461	20	0	1	0
chr19	10486665	10486665	T	G	exonic	KEAP1	.	nonsynonymous SNV	KEAP1:NM_012289:exon6:c.A1862C:p.N621T	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.02	B	0.012	B	0.015	N	0.841	N	0	N	-0.47	T	-0.947	T	0.144	T	0.14	2.396	13.97	4.88	1.075	0.650	6.17	0.064	0.00998049131201	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1015079556	4.105e-06	4.104e-06	5.445e-06	2.75e-06	0.0010	1.48e-06	9.7e-07	0.0005	0.0003	0	0	0	0	0	0.0010	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.224	0.25591	T	0.02	0.18235	B	0.012	0.16012	B	0.015478	0.28237	N	0.414798	0.840775	0.28633	N	0	0.06538	N	-0.47	0.70133	T	-0.68	0.19509	N	0.103	0.15046	-0.9466	0.41549	T	0.144	0.46587	T	10	0.11851123	0.22408	T	0.00998	0.25968	T	0.064	0.18567	0.205	0.12076	0.597456354548	0.59425	0.2878392153506933	0.28696	0.995633623574	0.74220	0.623597443104	0.56237	T	0.156576	0.49881	T	-0.128081	0.31806	T	-0.421756	0.30875	T	0.226959211275741	0.21806	T	0.713029	0.32487	T	0.049584664	0.08826	0.059231717	0.11083	0.049584664	0.08825	0.059231717	0.11082	-3.411	0.15204	T	.	.	0.080	0.08512	B	.;.	.;.	2.359504	0.30260	18.38	0.98675925125548281	0.44539	0.31110	0.24254	N	AEFBHCI	0.174936	0.30209	N	-0.34701626894559	0.27382	1.501867	-0.125516829185347	0.34365	1.975918	0.999529288087875	0.40175	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	4.88	0.63131	1.123000	0.30922	3.399000	0.38117	0.664000	0.56970	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0818:0.1625:0.7556	6.17	0.19627	711	0.56613	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1363.98	33	chr19	10486665	.	T	G	1363.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.210e-01;DP=806;ExcessHet=0.0000;FS=0.793;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.21;ReadPosRankSum=0.572;SOR=0.565	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1311	20	0	1	0
chr19	10514794	10514794	A	G	exonic	S1PR5	.	nonsynonymous SNV	S1PR5:NM_001166215:exon2:c.T218C:p.L73P	.	.	425	1093	4	0	0	4	0.00182648	.	.	3473370	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.995	D	0.944	D	0.006	U	1.000	D	2.265	M	-0.75	T	-0.011	T	0.496	T	0.825	2.663	14.87	4.27	1.783	1.341	7.064	0.712	0.679527788548	.	.	0.0002	0	0	0.0016	0	0.0001	0	0	0.000194	30	154602	rs761548591	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	0	2.24e-05	0	0.0003	0	0.0002	0.0004	0.0001	1.16e-05	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0004	0.0002	7.234e-05	0	0	0	0.0010	0	0	0.0003	0.0005	0	0.001	0.78490	D	0.009	0.66756	D	0.995	0.67487	D	0.944	0.68059	D	0.005992	0.32354	U	0.205107	0.999944	0.51968	D	2.47	0.71715	M	-0.75	0.73311	T	-3.68	0.70314	D	0.672	0.77883	-0.0109	0.82030	T	0.496	0.80932	T	10	0.39823672	0.55381	T	0.679528	0.97342	D	0.712	0.89741	.	.	0.888659427317	0.88756	0.8825379922872842	0.88221	.	.	0.778529047966	0.78706	T	0.36748	0.73255	T	-0.0704103	0.41262	T	0.0756433	0.75287	D	0.272149087036811	0.23839	T	0.768423	0.39759	T	0.8191208	0.85160	0.852495	0.91672	0.8191208	0.85162	0.852495	0.91672	-7.257	0.55889	T	.	.	0.535	0.68528	A	.;.;.	.;.;.	5.126606	0.85775	28.7	0.99794846928972192	0.88017	0.71460	0.35022	D	AEFDBCI	0.544996	0.55969	D	0.395421654384875	0.61174	4.314936	0.299855094954618	0.55529	3.716085	0.999979508789052	0.50053	0.59774	0.34471	0	0.563428	0.19063	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	4.27	4.27	0.50009	1.437000	0.34601	11.156000	0.87498	0.567000	0.28720	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.678:0.0:0.0:0.322	7.064	0.24318	743	0.52768	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2020.98	35	chr19	10514794	.	A	G	2020.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.530e+00;DP=933;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=-7.170e-01;SOR=0.646	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr19	10552121	10552121	G	C	exonic	ATG4D	.	nonsynonymous SNV	ATG4D:NM_001281504:exon8:c.G933C:p.E311D	.	.	426	1076	20	0	0	20	0.0092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.771	P	0.348	B	0.000	D	1.000	D	0.895	L	0.99	T	-1.095	T	0.084	T	0.355	2.583	14.60	4.12	1.305	7.012	14.217	0.202	.	0.0002	0.000599042	0.0007	0	0.0003	0	0	0.0003	0.0022	0.0033	0.0005563	86	154602	rs141346756	0.0003	0.0003	0.0002	0.0005	0.0040	0.0003	0.0003	0.0033	0.0032	0	0.0002	0.0001	0	0	0.0040	0.0001	0.0005	0.0037	0.0002	0.0002	0.0001	0.0003	0.0031	0.0002	0.0001	0.0019	0.0015	0	0	0	0.0003	0	0	0	0.0002	0.0005	0.0031	0.025	0.47320	D	0.118	0.59159	T	0.392	0.34646	B	0.261	0.39516	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.465	0.36909	L	0.99	0.41750	T	-1.99	0.45949	N	0.553	0.57860	-1.0952	0.04723	T	0.084	0.32843	T	10	0.016469032	0.00347	T	0.023869	0.46847	T	0.202	0.48754	0.542	0.65446	0.458101713262	0.45433	0.403865083192334	0.40302	0.981003695399	0.73741	0.661559700966	0.61633	T	0.061153	0.31577	T	-0.405011	0.02146	T	-0.356336	0.38476	T	0.0440389193697354	0.04428	T	0.925307	0.72522	D	0.5230501	0.68434	0.35204622	0.60789	0.5230501	0.68435	0.35204622	0.60788	-7.826	0.59879	D	.	.	0.305	0.54616	B	.;.;.	.;.;.	4.653263	0.74205	26.1	0.99712663118766443	0.81423	0.95848	0.66412	D	AEFDGBHCI	0.951781	0.96665	D	-0.15424566245146	0.35055	2.008676	-0.0828658949234684	0.36099	2.096491	0.999999999811327	0.74766	0.712529	0.81865	0	0.697927	0.68747	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	5.17	4.12	0.47504	7.096000	0.76614	8.309000	0.76944	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.802000	0.37819	0.0:0.0:0.8489:0.1511	14.217	0.65341	735	0.53711	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1524.98	35	chr19	10552121	.	G	C	1524.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.001e+00;DP=879;ExcessHet=0.0000;FS=2.162;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.13;ReadPosRankSum=-1.882e+00;SOR=0.511	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr19	10631490	10631490	C	T	exonic	SLC44A2	.	nonsynonymous SNV	SLC44A2:NM_001145056:exon7:c.C451T:p.L151F	.	.	420	1086	14	2	0	18	0.00821918	.	.	2811565	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.149	B	0.26	B	0.001	D	1.000	D	3.005	M	2.82	T	-1.100	T	0.043	T	0.34	3.056	16.20	4.87	2.561	3.360	11.149	0.134	.	0.0046	0.00119808	0.0043	0.0012	0.0027	0	0.0011	0.0066	0.0044	0.0018	0.004269	660	154602	rs147820753	0.0053	0.0053	0.0054	0.0052	0.0061	0.0052	0.0051	0.0060	0.0059	0.0012	0.0038	0.0060	2.519e-05	0.0015	0.0049	0.0061	0.0049	0.0017	0.0042	0.0042	0.0047	0.0037	0.0070	0.0039	0.0038	0.0065	0.0063	0.0011	0	0.0045	0.0063	0	0.0007	0.0034	0.0070	0.0043	0.0008	0.008	0.65419	D	0.072	0.51737	T	0.149	0.27956	B	0.26	0.39460	B	0.000731	0.42129	D	0.207551	0.999687	0.48270	D	3.355	0.91145	M	1.92	0.23082	T	-2.45	0.53577	N	0.284	0.32148	-1.0997	0.04128	T	0.043	0.18701	T	10	0.0039951503	0.00077	T	.	.	.	0.134	0.36365	.	.	0.467247493403	0.46351	0.8331735572011452	0.83276	0.460764587813	0.45631	0.57872068882	0.49906	T	0.110705	0.59963	T	-0.414945	0.01844	T	-0.362277	0.37787	T	0.0778227691841469	0.09706	T	0.710029	0.40874	T	0.17049186	0.37626	0.18059826	0.40869	0.17049186	0.37626	0.18059826	0.40868	-8.331	0.63304	D	.	.	0.459	0.65444	A	.;.;.;.;.	.;.;.;.;.	3.717994	0.53115	23.3	0.99811418551868991	0.89531	0.96237	0.68167	D	AEFDGBI	0.580958	0.58116	D	0.096398637139644	0.46294	2.872031	0.121495831935482	0.45650	2.824449	0.999994654175628	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.87	4.87	0.62877	3.429000	0.52567	3.287000	0.37275	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.0:0.9113:0.0:0.0887	11.149	0.47669	814	0.42100	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2397.98	98	chr19	10631490	.	C	T	2397.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.030e-01;DP=2207;ExcessHet=0.0000;FS=2.621;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.51;ReadPosRankSum=-1.847e+00;SOR=0.906	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:126,0:126:99:.:.:0,120,1800	20	0	1	0
chr19	10631646	10631646	G	A	exonic	SLC44A2	.	nonsynonymous SNV	SLC44A2:NM_001145056:exon8:c.G517A:p.A173T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.002	B	0.002	B	0.000	D	0.839	D	1.56	L	3.0	T	-1.052	T	0.028	T	0.272	1.217	9.939	4.73	2.480	6.595	16.687	0.142	0.00500901989889	.	.	8.271e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs760046078	6.843e-06	1.026e-05	5.447e-06	8.254e-06	5.797e-05	3.46e-06	2.52e-06	2.194e-05	1.43e-05	0	2.237e-05	0	2.519e-05	0	0	2.698e-06	0	5.797e-05	1.314e-05	1.313e-05	2.569e-05	0	6.543e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	6.543e-05	0	0	0	0	0	0	0	0.751	0.03576	T	0.177	0.56192	T	0.002	0.09854	B	0.002	0.06944	B	0.000031	0.55875	D	0.118870	0.839216	0.35039	D	2.135	0.59519	M	2.21	0.18414	T	-0.34	0.12661	N	0.549	0.57946	-1.0525	0.13709	T	0.028	0.12103	T	10	0.14656931	0.27786	T	0.005009	0.12660	T	0.142	0.37995	0.422	0.46529	0.351180957027	0.34734	0.8066983716275047	0.80624	0.31972383323	0.34172	0.469737440348	0.34644	T	0.00571	0.14410	T	-0.166154	0.25818	T	-0.476445	0.24826	T	0.407502174377441	0.29224	T	0.919208	0.70896	D	0.08889599	0.20753	0.12194454	0.29418	0.08889599	0.20753	0.12194454	0.29417	-7.708	0.60694	D	.	.	0.299	0.52921	B	.;.;.;.;.	.;.;.;.;.	4.372976	0.67337	25.1	0.84242597941807129	0.15178	0.98308	0.81482	D	AEFGBI	0.741705	0.68556	D	-0.163665312308865	0.34656	1.980691	-0.0202575475888222	0.38800	2.291238	0.999996955087461	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	4.73	4.73	0.59485	6.716000	0.74519	11.733000	0.95036	0.675000	0.71128	0.996000	0.39380	1.000000	0.68203	0.932000	0.46971	0.0:0.0:1.0:0.0	16.687	0.85169	814	0.42100	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2148.98	164	chr19	10631646	.	G	A	2148.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=3479;ExcessHet=0.0000;FS=1.094;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=0.073;SOR=0.795	GT:AD:DP:GQ:PL	0/0:188,0:188:99:0,120,1800	20	0	1	0
chr19	10683742	10683742	G	A	exonic	ILF3	.	nonsynonymous SNV	ILF3:NM_001137673:exon16:c.G1970A:p.R657H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.999	D	0.872	P	0.000	D	1.000	D	0.975	L	2.4	T	-1.117	T	0.069	T	0.491	3.223	16.80	4.79	1.462	8.347	15.268	0.171	0.0181873517275	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.741e-06	2.736e-06	1.363e-06	4.133e-06	2.257e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	0	2.257e-05	0	0	0	0	2.701e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.47320	T	0.541	0.69154	T	0.948	0.77913	P	0.432	0.61918	B	0.000000	0.84330	D	0.000000	0.999837	0.49637	D	2.095	0.58118	M	2.21	0.18414	T	-0.84	0.22944	N	0.474	0.60071	-1.1167	0.02552	T	0.069	0.28213	T	10	0.38783574	0.54672	T	0.018187	0.40170	T	0.171	0.43483	0.348	0.34436	0.505880369122	0.50227	0.5917198129904536	0.59101	0.38453098163	0.39751	0.654335200787	0.60601	T	0.365613	0.73100	T	-0.0944908	0.37336	T	-0.373506	0.36479	T	0.766643285751343	0.44239	D	0.905909	0.84742	D	0.08648827	0.20104	0.06345532	0.12572	0.08648827	0.20104	0.06345532	0.12571	-8.707	0.65791	D	.	.	0.828	0.81933	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.197478	0.63317	24.6	0.99690859739079452	0.79909	0.98082	0.79445	D	AEFDBCI	0.892555	0.82959	D	0.322220205280883	0.57290	3.895873	0.329797011529616	0.57298	3.895014	0.999283956218648	0.39007	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.84	4.79	0.60909	6.706000	0.74474	10.033000	0.83171	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.375000	0.26223	0.0:0.0:0.8583:0.1417	15.268	0.73376	735	0.53711	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	4290.08	50	chr19	10683742	.	G	A	4290.08	.	AC=2;AF=0.048;AN=42;DP=1098;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=34.32;SOR=0.709	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	20	1	0	0
chr19	10783049	10783049	C	G	exonic	DNM2	.	nonsynonymous SNV	DNM2:NM_001005360:exon6:c.C778G:p.L260V	Charcot-Marie-Tooth disease, axonal, type 2M, Autosomal dominant;Charcot-Marie-Tooth disease, dominant intermediate B, Autosomal dominant;Lethal congenital contracture syndrome 5, Autosomal recessive;Myopathy, centronuclear, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	647461	Inborn_genetic_diseases|Charcot-Marie-Tooth_disease_dominant_intermediate_B|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011674,MedGen:C1847902,OMIM:606482,Orphanet:100044,Orphanet:228179|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.997	D	0.986	D	0.000	D	1.000	D	3.055	M	-0.7	T	0.331	D	0.610	D	0.488	3.910	19.89	5.41	2.537	4.986	17.967	0.334	0.127846576677	0.0002	.	2.494e-05	0	0	0	0	4.55e-05	0	0	1.94e-05	3	154602	rs145607989	1.368e-05	1.368e-05	1.498e-05	1.238e-05	0.0005	8.94e-06	7.26e-06	0.0001	7.541e-05	0	4.472e-05	0	0	0	0.0005	1.259e-05	1.656e-05	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.023	0.50676	D	0.135	0.69154	T	0.814	0.45487	P	0.584	0.50293	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.83	0.82355	M	-0.7	0.72785	T	-2.32	0.51646	N	0.556	0.59053	0.331	0.88039	D	0.610	0.86191	D	10	0.4329775	0.57611	T	0.127847	0.80970	D	0.334	0.65620	.	.	0.752085495845	0.74984	0.5655833535515071	0.56485	1.93509585189	0.93180	0.577961802483	0.49799	T	0.808464	0.95188	D	0.00646198	0.52542	T	-0.145629	0.59628	T	0.53683990240097	0.33987	D	0.981102	0.95398	D	0.71471554	0.78868	0.6019126	0.76869	0.71471554	0.78869	0.6019126	0.76870	-12.613	0.87708	D	0.5732319518254327	0.64030	0.261	0.53510	B	.;.;.;.;.;.	.;.;.;.;.;.	4.545699	0.71494	25.7	0.99639967105403238	0.76571	0.98748	0.86347	D	AEFDBI	0.809164	0.73274	D	0.594176886625484	0.72810	5.864728	0.606559760050089	0.75415	6.306504	0.999999999994167	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.41	5.41	0.78313	5.064000	0.64169	5.919000	0.51137	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	17.967	0.89023	418	0.81602	.;.;.;Dynamin central domain|Dynamin-type guanine nucleotide-binding (G) domain|Dynamin, GTPase domain;.;Dynamin central domain|Dynamin-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1316.98	33	chr19	10783049	.	C	G	1316.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.744e+00;DP=815;ExcessHet=0.0000;FS=8.547;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=-7.700e-02;SOR=0.749	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1305	20	0	1	0
chr19	10871725	10871725	T	-	exonic	CARM1	.	frameshift deletion	CARM1:NM_001370088:exon1:c.23delT:p.V8Gfs*117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	30.94	9	chr19	10871724	.	GT	G	30.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.060e-01;DP=390;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0247;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.06;ReadPosRankSum=1.92;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:20,0:20:60:.:.:0,60,530	20	0	1	0
chr19	10986422	10986422	C	T	exonic	SMARCA4	.	nonsynonymous SNV	SMARCA4:NM_001128845:exon3:c.C589T:p.P197S	Coffin-Siris syndrome 4, Autosomal dominant	.	0	1497	24	1	0	26	0.00860927	.	.	138990	not_specified|Intellectual_disability,_autosomal_dominant_16|Hereditary_cancer-predisposing_syndrome|Rhabdoid_tumor_predisposition_syndrome_2|not_provided|Coffin-Siris_syndrome	MedGen:CN169374|MONDO:MONDO:0013821,MedGen:C3553249,OMIM:614609,Orphanet:1465|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0013224,MedGen:C2750074,OMIM:613325,Orphanet:231108,Orphanet:69077|MedGen:C3661900|MONDO:MONDO:0015452,MedGen:C0265338,OMIM:PS135900,Orphanet:1465	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.36	T	0.997	D	0.992	D	0.000	D	1.000	D	1.18	L	-2.35	D	0.313	D	0.708	D	0.568	4.095	21.1	4.32	2.244	7.510	15.759	0.653	.	0.0009	0.00139776	0.0057	0.0003	0.0014	0	0.0231	0.0049	0.0081	0.0096	0.0021733	336	154602	rs200664441	0.0019	0.0020	0.0018	0.0021	0.0072	0.0019	0.0019	0.0067	0.0065	3.049e-05	0.0002	0.0007	0	0.0101	0.0047	0.0014	0.0017	0.0072	0.0019	0.0019	0.0014	0.0025	0.0054	0.0017	0.0017	0.0038	0.0032	0.0002	0	0.0003	0.0003	0.0002	0.0113	0	0.0019	0.0009	0.0054	0.178	0.22138	T	0.357	0.19845	T	0.997	0.70673	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	1.01	0.25309	L	-2.37	0.88220	D	-2.54	0.55025	D	0.776	0.77413	0.313	0.87761	D	0.708	0.89947	D	10	0.008630902	0.00196	T	.	.	.	0.653	0.86936	.	.	0.657837784098	0.65497	0.6235723534144302	0.62290	0.913241329037	0.71139	0.714207053185	0.69203	T	0.675847	0.90428	D	-0.201606	0.20572	T	-0.0585044	0.66437	T	0.0357437925679412	0.02936	T	0.970203	0.89274	D	0.13477674	0.31302	0.16040199	0.37361	0.15440038	0.34949	0.16865475	0.38840	-10.812	0.78616	D	0.23241403128316984	0.31457	0.496	0.71937	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.208073	0.63548	24.6	0.9989858992289542	0.97124	0.98040	0.79094	D	AEFDBHCI	0.912643	0.87356	D	0.50929276600967	0.67637	5.108343	0.495885789513639	0.67717	5.121527	0.999999999802393	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	4.32	4.32	0.50899	7.830000	0.84907	7.600000	0.61533	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.697000	0.34049	0.0:1.0:0.0:0.0	15.759	0.77828	508	0.75398	Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;.;.;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;.;.;.;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;.;.;.;.;.;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	2774.11	39	chr19	10986422	.	C	T	2774.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.09;DP=958;ExcessHet=0.1072;FS=0.963;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.55;ReadPosRankSum=0.138;SOR=0.767	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1261	19	0	2	0
chr19	11107514	11107514	G	A	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195800:exon4:c.G436A:p.G146R	Hypercholesterolemia, familial, Autosomal dominant;LDL cholesterol level QTL2, Autosomal dominant	YES	0	1516	6	0	0	6	0.00197498	0.9786	0.752	181243	Familial_hypercholesterolemia|not_specified|not_provided|Cardiovascular_phenotype|Hypercholesterolemia,_familial,_1	MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.105	B	0.083	B	0.486	N	1.000	D	1.87	L	-2.63	D	-0.018	T	0.691	D	0.738	1.587	11.26	2.08	0.239	2.099	5.856	0.610	.	.	0.000199681	4.127e-05	0	0	0	0	6.005e-05	0.0011	0	5.17e-05	8	154602	rs72658858	4.401e-05	4.446e-05	4.516e-05	4.285e-05	0.0010	3.527e-05	3.209e-05	0.0005	0.0003	9.021e-05	4.498e-05	0	0	0	0.0010	3.974e-05	0.0001	2.322e-05	4.6e-05	4.593e-05	3.858e-05	5.376e-05	0.0002	2.11e-05	1.527e-05	1.973e-05	1.125e-05	4.816e-05	0	0	0	0.0002	0	0	5.883e-05	0	0	0.052	0.47745	T	0.075	0.51421	T	0.105	0.25993	B	0.083	0.29179	B	0.485832	0.12113	N	0.720818	0.999999	0.58761	D	3.35	0.91085	M	-2.66	0.94161	D	-3.53	0.75297	D	0.286	0.33578	-0.0177	0.81886	T	0.691	0.89349	D	10	0.41681018	0.56596	T	0.673868	0.97285	D	0.610	0.84719	0.65	0.78753	0.999348807368	0.99933	0.8057189756564742	0.80526	0.292576888637	0.31676	0.258556425571	0.04720	T	0.778032	0.94115	D	0.154552	0.69695	D	0.160074	0.80811	D	0.143893626904328	0.16605	T	0.791621	0.49484	T	0.28866148	0.51868	0.21906629	0.46632	0.27933842	0.50984	0.19327447	0.42886	-11.644	0.83074	D	.	.	0.221	0.56265	B	.;.;.;.;.;.	.;.;.;.;.;.	3.147750	0.42600	21.6	0.98493868856320632	0.42132	0.91320	0.53296	D	AEFDBHCI	0.309373	0.41570	N	-0.358972654143662	0.26943	1.474456	-0.316650258099997	0.27560	1.530176	0.997129638452054	0.35298	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.33	2.08	0.26079	1.096000	0.30587	.	.	0.658000	0.54486	0.734000	0.28964	0.993000	0.31925	0.079000	0.17189	0.2328:0.1439:0.6232:0.0	5.856	0.17970	517	0.74620	EGF-like domain|EGF-like calcium-binding domain;EGF-like domain|EGF-like calcium-binding domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1630.98	127	chr19	11107514	.	G	A	1630.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.56;DP=827;ExcessHet=0.0000;FS=2.252;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=-1.590e-01;SOR=0.928	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1294	20	0	1	0
chr19	11213294	11213294	A	G	exonic	DOCK6	.	nonsynonymous SNV	DOCK6:NM_020812:exon35:c.T4373C:p.L1458P	Adams-Oliver syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.91	P	0.707	P	0.000	D	1.000	D	2.64	M	-0.31	T	-0.227	T	0.413	T	0.924	3.650	18.56	5.35	2.024	2.555	14.303	0.599	0.104392099139	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1026744494	2.054e-06	2.052e-06	1.363e-06	2.753e-06	1.16e-05	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	0	3.317e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.18626	T	0.158	0.31629	T	0.91	0.50240	P	0.707	0.54387	P	0.000001	0.84330	D	0.000000	1	0.81001	D	2.79	0.81396	M	-0.31	0.68030	T	-3.53	0.68532	D	0.846	0.84194	-0.2267	0.76974	T	0.413	0.76081	T	10	0.8389175	0.83045	D	0.104392	0.77895	D	0.599	0.84128	0.645	0.78224	0.875342433612	0.87412	0.8514106896222834	0.85103	0.711249349536	0.61720	0.712542772293	0.68962	T	0.201032	0.55880	T	0.29526	0.82585	D	0.186344	0.82360	D	0.981356143951416	0.73864	D	0.933807	0.75196	D	0.7948435	0.83578	0.7622288	0.85952	0.7948435	0.83580	0.7622288	0.85953	-10.821	0.78667	D	.	.	0.790	0.76833	P	.	.	4.681252	0.74909	26.2	0.99826081126936284	0.90852	0.95012	0.63118	D	AEFBI	0.773005	0.70715	D	0.506116957751963	0.67451	5.083377	0.497736128864179	0.67840	5.138169	0.999221090441726	0.38808	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.35	5.35	0.76297	2.013000	0.40561	.	.	0.754000	0.88378	0.997000	0.40164	0.886000	0.27767	0.986000	0.61781	1.0:0.0:0.0:0.0	14.303	0.65916	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1724.98	34	chr19	11213294	.	A	G	1724.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.217e+00;DP=875;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.43;ReadPosRankSum=-4.250e-01;SOR=0.675	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1258	20	0	1	0
chr19	11236849	11236849	C	T	exonic	DOCK6	.	nonsynonymous SNV	DOCK6:NM_001367830:exon19:c.G2104A:p.G702S	Adams-Oliver syndrome 2, Autosomal recessive	.	0	1481	38	3	0	44	0.0146374	.	.	514258	not_provided|Adams-Oliver_syndrome_2|DOCK6-related_disorder	MedGen:C3661900|MONDO:MONDO:0013635,MedGen:C3280182,OMIM:614219,Orphanet:974|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.734	P	0.211	B	0.000	D	0.777	D	2.205	M	1.69	T	-0.939	T	0.056	T	0.209	3.415	17.54	3.62	2.148	4.448	5.400	0.093	.	0.0008	0.00199681	0.0062	0.0009	0.0047	0	0.0192	0.0028	0.0053	0.0120	0.0014553	225	154602	rs199838752	0.0019	0.0019	0.0015	0.0022	0.0118	0.0018	0.0018	0.0112	0.0109	0.0001	0.0008	0.0040	2.778e-05	0.0015	0.0091	0.0012	0.0023	0.0118	0.0013	0.0013	0.0013	0.0013	0.0087	0.0012	0.0011	0.0066	0.0059	0.0004	0	0.0007	0.0055	0.0002	0.0016	0.0136	0.0013	0.0014	0.0087	0.017	0.51248	D	0.321	0.19073	T	0.586	0.38931	P	0.211	0.37346	B	0.000237	0.47286	D	0.173369	0.776653	0.34216	D	1.72	0.44442	L	1.69	0.27032	T	-3.76	0.71276	D	0.271	0.30687	-0.9394	0.42711	T	0.056	0.23639	T	10	0.00919348	0.00208	T	.	.	.	0.093	0.26882	.	.	0.414281671643	0.41045	0.5572741867770362	0.55654	0.352166808134	0.37058	0.556195914745	0.46730	T	0.138703	0.47233	T	-0.514771	0.00472	T	-0.502814	0.22056	T	0.0360450584337314	0.02988	T	0.812119	0.46368	T	0.19699134	0.41548	0.23599456	0.48859	0.19699134	0.41547	0.23599456	0.48858	-4.96	0.36403	T	.	.	0.081	0.08176	B	.	.	3.503437	0.49029	22.7	0.99803746337406507	0.88817	0.73063	0.35744	D	AEFDBHCIJ	0.244935	0.36595	N	0.255939982699271	0.53933	3.560307	0.281550120516721	0.54463	3.611177	0.999999985886754	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	4.66	3.62	0.40616	3.157000	0.50414	.	.	0.599000	0.40250	0.929000	0.32243	0.999000	0.35428	0.940000	0.48062	0.0:0.7138:0.0:0.2862	5.400	0.15591	830	0.39242	DHR-1 domain|DHR-1 domain|Dedicator of cytokinesis C, C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	7920.66	59	chr19	11236849	.	C	T	7920.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.674;DP=1201;ExcessHet=0.0000;FS=1.859;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=19.27;ReadPosRankSum=1.49;SOR=0.572	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1176	19	1	1	0
chr19	11359694	11359694	C	G	exonic	PLPPR2	.	nonsynonymous SNV	PLPPR2:NM_001170635:exon4:c.C154G:p.L52V	.	.	429	1067	24	2	0	28	0.012951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.95	T	0.791	P	0.338	B	0.000	D	0.999	D	1.24	L	1.31	T	-1.050	T	0.059	T	0.282	-0.006	3.984	1.87	0.212	2.213	10.376	0.068	.	0.0035	0.00798722	0.0089	0.0010	0.0026	0	0.0005	0.0057	0.0047	0.0463	0.0079947	1236	154602	rs72992932	0.0066	0.0067	0.0056	0.0077	0.0391	0.0065	0.0065	0.0380	0.0376	0.0007	0.0030	0.0034	0	0.0009	0.0098	0.0050	0.0069	0.0391	0.0041	0.0041	0.0036	0.0046	0.0340	0.0038	0.0037	0.0297	0.0281	0.0008	0.0066	0.0052	0.0037	0	0.0004	0.0034	0.0046	0.0047	0.0340	0.591	0.05790	T	0.605	0.22561	T	0.791	0.44643	P	0.338	0.42306	B	0.000322	0.45700	D	0.150109	0.99914	0.46174	D	.	.	.	1.31	0.35590	T	-1.06	0.27669	N	0.447	0.51405	-1.0499	0.14425	T	0.059	0.24612	T	10	0.005675763	0.00126	T	.	.	.	0.068	0.19811	.	.	0.0716867268079	0.06686	0.7992449369345836	0.79877	1.25605872944	0.81899	0.676699638367	0.63795	T	0.023934	0.22691	T	-0.518016	0.00452	T	-0.487594	0.23643	T	0.0187988301589473	0.00591	T	0.914708	0.69569	D	0.046659447	0.07847	0.056713566	0.10183	0.046659447	0.07847	0.056713566	0.10182	-7.159	0.55186	T	.	.	0.104	0.23255	B	.;.;.;.	.;.;.;.	1.693568	0.21574	15.26	0.60616280905522979	0.06506	0.81471	0.40868	D	AEFDGBHI	0.405200	0.47818	N	-0.361230476343659	0.26861	1.469306	-0.32870950022154	0.27176	1.506141	0.999954887531221	0.48110	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.27	1.87	0.24559	1.280000	0.32807	.	.	0.587000	0.30956	0.991000	0.37257	0.936000	0.28664	0.395000	0.26670	0.0:0.7779:0.0:0.2221	10.376	0.43262	835	0.38313	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2555.98	33	chr19	11359694	.	C	G	2555.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.360e-01;DP=899;ExcessHet=0.0000;FS=1.810;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=-2.820e-01;SOR=0.876	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1409	20	0	1	0
chr19	11378081	11378089	TGGGCTCCC	-	exonic	EPOR	.	nonframeshift deletion	EPOR:NM_000121:exon8:c.1422_1430del:p.A476_G478del,	.	.	406	1113	3	0	0	3	0.0013459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	9.921e-05	0	8.649e-05	0	0	0.0002	0	0	3.84e-05	1	26028	rs778198044	5.951e-05	5.951e-05	4.901e-05	7.013e-05	0.0003	4.883e-05	4.561e-05	7.281e-05	5.16e-05	0	0.0002	3.826e-05	0	0	0.0003	6.205e-05	0.0001	1.159e-05	8.546e-05	8.538e-05	7.711e-05	9.419e-05	0.0002	4.959e-05	3.964e-05	0.0001	7.898e-05	0	0	6.55e-05	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3662.05	34	chr19	11378080	.	TTGGGCTCCC	T	3662.05	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.07;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=30.77;ReadPosRankSum=0.517;SOR=0.710	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1082	20	1	0	0
chr19	11383211	11383211	C	T	exonic	EPOR	.	nonsynonymous SNV	EPOR:NM_000121:exon2:c.G137A:p.G46E,	.	.	418	1072	31	1	0	33	0.0151585	.	.	342728	Primary_familial_polycythemia_due_to_EPO_receptor_mutation|not_provided	MONDO:MONDO:0007572,MedGen:C4551637,OMIM:133100,Orphanet:90042|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	1	T	0.004	B	0.009	B	0.218	N	1.000	N	0.46	N	-1.53	D	-0.957	T	0.125	T	0.051	-1.477	0.018	-2.21	-0.144	0.112	0.198	0.138	.	0.0048	0.00419329	0.0056	0.0029	0.0029	0	0.0009	0.0065	0.0046	0.0107	0.0053233	823	154602	rs45516306	0.0071	0.0071	0.0070	0.0073	0.0114	0.0070	0.0070	0.0108	0.0106	0.0018	0.0037	0.0068	0	0.0009	0.0054	0.0077	0.0065	0.0114	0.0046	0.0046	0.0047	0.0045	0.0122	0.0043	0.0042	0.0097	0.0088	0.0016	0	0.0049	0.0052	0.0002	0.0008	0	0.0068	0.0043	0.0122	1.0	0.00964	T	0.548	0.10678	T	0.004	0.12183	B	0.009	0.14300	B	0.217787	0.16210	N	0.588615	1	0.08975	N	0.685	0.16464	N	-1.53	0.81559	D	-0.91	0.24460	N	0.084	0.06059	-0.9572	0.39699	T	0.125	0.42966	T	10	0.0049070716	0.00105	T	.	.	.	0.138	0.37187	.	.	0.564541561611	0.56117	0.6439902255400745	0.64334	1.05196235552	0.76184	0.47251406312	0.35026	T	0.216065	0.57812	T	-0.52474	0.00413	T	-0.518568	0.20440	T	0.00488103608185247	0.00052	T	0.614539	0.23442	T	0.12722376	0.29776	0.09064179	0.21267	0.12652256	0.29632	0.08392942	0.19272	-2.562	0.06220	T	.	.	0.084	0.10691	B	.;.	.;.	0.683896	0.10526	7.236	0.71319046514445861	0.09589	0.08374	0.14311	N	ALL	0.087113	0.17664	N	-1.27220848452605	0.04014	0.1803893	-1.27620343391686	0.04754	0.2249996	0.999934561351446	0.46732	0.652421	0.48094	0	0.606814	0.50340	0	0.64067	0.45733	0	0.604282	0.37693	0	.	.	4.93	-2.21	0.06581	-0.065000	0.11575	.	.	0.469000	0.21855	0.157000	0.23755	0.000000	0.08366	0.529000	0.29684	0.3403:0.2465:0.1679:0.2454	0.198	0.00132	856	0.34373	Growth hormone/erythropoietin receptor, ligand binding;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	621.98	33	chr19	11383211	.	C	T	621.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.972;DP=715;ExcessHet=0.0000;FS=1.309;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.55;ReadPosRankSum=-1.837e+00;SOR=0.382	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1032	20	0	1	0
chr19	11405406	11405406	G	C	exonic	RGL3	.	nonsynonymous SNV	RGL3:NM_001035223:exon8:c.C1017G:p.N339K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.235	H	-0.44	T	0.121	D	0.587	D	0.498	3.271	16.98	0.744	0.212	0.433	8.708	0.423	0.196437592837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.003	0.79402	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999782	0.49076	D	.	.	.	-0.44	0.69777	T	-5.56	0.86296	D	0.955	0.96416	0.121	0.84545	D	0.587	0.85193	D	10	0.9687301	0.96415	D	0.196438	0.86479	D	0.633	0.85924	0.856	0.95547	0.645372302287	0.64243	0.7254216986829906	0.72486	0.56572969357	0.52901	0.781132102013	0.79098	T	0.497296	0.81923	T	0.0551969	0.59008	T	-0.15849	0.58488	T	0.997808158397675	0.92464	D	0.953905	0.82456	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	0.96466	P	.;.	.;.	3.588069	0.50618	23.0	0.99736088181629057	0.83119	0.90066	0.50957	D	AEFDBI	0.565574	0.57190	D	0.48326814403872	0.66114	4.908338	0.284030260583653	0.54608	3.625159	1.08984404763921E-4	0.05123	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.26	0.744	0.17503	0.403000	0.20706	.	.	0.676000	0.76740	0.998000	0.41325	0.995000	0.32472	0.700000	0.34141	0.3282:0.0:0.6718:0.0	8.708	0.33527	862	0.33134	Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	209.78	55	chr19	11405406	.	G	C	209.78	.	AC=6;AF=0.200;AN=30;BaseQRankSum=-1.596e+00;DP=1235;ExcessHet=1.7912;FS=66.458;InbreedingCoeff=-0.2677;MLEAC=6;MLEAF=0.200;MQ=59.99;MQRankSum=0.00;QD=0.65;ReadPosRankSum=0.788;SOR=8.235	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,8:54:57:.:.:0,57,1010	9	0	6	6
chr19	11405407	11405407	T	C	exonic	RGL3	.	nonsynonymous SNV	RGL3:NM_001035223:exon8:c.A1016G:p.N339S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.000	D	1.000	D	3.195	M	-0.42	T	0.276	D	0.556	D	0.448	3.897	19.81	5.26	1.991	7.387	14.148	0.767	0.11765181501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.842e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.46910	D	0.045	0.49942	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	-0.42	0.69536	T	-4.51	0.78222	D	0.926	0.93018	0.276	0.87164	D	0.556	0.83798	D	10	0.95189494	0.94530	D	0.117652	0.79749	D	0.767	0.92129	0.82	0.93328	0.643127189037	0.64018	0.5853249714877617	0.58462	0.473787794825	0.46581	0.688574552536	0.65501	T	0.388278	0.74899	T	0.0804978	0.62098	D	-0.122147	0.61625	T	0.997053503990173	0.90665	D	0.950605	0.81072	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.757	0.78104	P	.;.	.;.	4.976953	0.82408	27.8	0.998584207163148	0.93729	0.98131	0.79864	D	AEFDBI	0.948277	0.95973	D	0.784910675588042	0.85151	8.491899	0.694214424071738	0.81937	7.645418	0.999407243211158	0.39524	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.26	5.26	0.73479	7.669000	0.82880	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.686000	0.33718	0.0:0.0:0.0:1.0	14.148	0.64894	862	0.33134	Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1389	146.75	66	chr19	11405407	.	T	C	146.75	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-1.522e+00;DP=1164;ExcessHet=1.1607;FS=60.944;InbreedingCoeff=-0.1794;MLEAC=5;MLEAF=0.139;MQ=60.00;MQRankSum=0.00;QD=0.58;ReadPosRankSum=0.701;SOR=6.151	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:70,0:70:0:.:.:0,0,1334	13	0	5	3
chr19	11405408	11405408	T	C	exonic	RGL3	.	nonsynonymous SNV	RGL3:NM_001035223:exon8:c.A1015G:p.N339D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.685	H	-0.18	T	0.343	D	0.548	D	0.463	4.157	21.5	4.94	1.854	7.387	13.594	0.690	0.168257505331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.65419	D	0.008	0.67890	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	.	.	.	-0.18	0.65747	T	-4.65	0.79399	D	0.96	0.96984	0.343	0.88221	D	0.548	0.83393	D	10	0.9538684	0.94736	D	0.168258	0.84641	D	0.769	0.92212	0.814	0.92925	0.613675013168	0.61056	0.6608127146749349	0.66018	0.561778919436	0.52677	0.76652097702	0.76902	T	0.327982	0.69844	T	0.0801504	0.62059	D	-0.122646	0.61584	T	0.998850345611572	0.95376	D	0.950205	0.80929	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.973	0.89808	P	.;.	.;.	5.124242	0.85718	28.7	0.99721545031508141	0.82054	0.98097	0.79572	D	AEFDBI	0.950693	0.96457	D	0.813542536876161	0.86945	9.051328	0.690744031826607	0.81677	7.582605	0.998160086688684	0.36515	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.94	4.94	0.64645	7.669000	0.82880	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.658000	0.32913	0.0:0.0:0.0:1.0	13.594	0.61444	862	0.33134	Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	113.21	62	chr19	11405408	.	T	C	113.21	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.258e+00;DP=1105;ExcessHet=0.3300;FS=33.946;InbreedingCoeff=-0.0748;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.76;ReadPosRankSum=0.638;SOR=5.197	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:71,0:71:99:.:.:0,99,1823	18	0	3	0
chr19	11447529	11447531	GAG	-	exonic	PRKCSH	.	nonframeshift deletion	PRKCSH:NM_001289102:exon10:c.940_942del:p.E325del	Polycystic liver disease 1, Autosomal dominant	.	0	61	87	26	52	191	0.532567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	61194.9	119	chr19	11447525	.	AGAGGAG	A,AGAG	61194.9	.	AC=5,21;AF=0.119,0.500;AN=42;BaseQRankSum=-4.730e-01;DP=3206;ExcessHet=4.5793;FS=1.171;InbreedingCoeff=-0.2115;MLEAC=5,21;MLEAF=0.119,0.500;MQ=60.00;MQRankSum=0.00;QD=26.39;ReadPosRankSum=0.563;SOR=0.619	GT:AD:DP:GQ:PL	1/2:0,67,58:125:99:5109,2348,2296,2752,0,2571	2	0	2	0
chr19	11447718	11447718	C	T	exonic	PRKCSH	.	nonsynonymous SNV	PRKCSH:NM_001289103:exon12:c.C1055T:p.P352L	Polycystic liver disease 1, Autosomal dominant	.	4	1495	20	3	0	26	0.00862069	.	.	756701	not_provided|Polycystic_liver_disease_1	MedGen:C3661900|MONDO:MONDO:0008265,MedGen:C0887850,OMIM:174050,Orphanet:2924	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.76	T	0.004	B	0.002	B	0.055	N	0.999	N	2.045	M	-0.65	T	-0.960	T	0.219	T	0.204	1.597	11.30	1.74	1.026	1.044	6.774	0.093	0.0272592696228	0.0003	0.00179712	0.0016	0	0.0011	0	0	0.0007	0.0036	0.0071	0.0006792	105	154602	rs201537803	0.0004	0.0005	0.0003	0.0006	0.0041	0.0004	0.0004	0.0037	0.0036	0	0.0014	0.0014	0	0	0.0033	0.0001	0.0005	0.0041	0.0007	0.0007	0.0006	0.0009	0.0048	0.0006	0.0006	0.0033	0.0030	4.815e-05	0	0.0041	0.0014	0	9.425e-05	0.0034	0.0002	0.0005	0.0048	.	.	.	0.062	0.45318	T	0.004	0.12183	B	0.002	0.06944	B	0.055407	0.22644	N	0.489932	0.998738	0.21949	N	2.82	0.82106	M	-0.61	0.72237	T	.	.	.	0.379	0.42050	-0.9598	0.39218	T	0.219	0.58163	T	10	0.0074155033	0.00169	T	0.027259	0.50089	D	.	.	.	.	0.63602097216	0.63303	0.3148855545786996	0.31401	.	.	0.422644913197	0.28200	T	0.01709	0.26030	T	-0.410268	0.01979	T	-0.361969	0.37825	T	0.0276172191668433	0.01632	T	0.684232	0.29249	T	0.05801091	0.11619	0.06320872	0.12486	0.051008906	0.09304	0.060679134	0.11594	-5.921	0.45614	T	.	.	0.077	0.06479	B	.;.	.;.	1.813121	0.23040	15.86	0.75341233056295642	0.11037	0.23174	0.21990	N	AEFDBHCI	0.264501	0.38183	N	-0.871565434409026	0.11522	0.5565151	-0.923174362116508	0.11548	0.5889706	0.0211538212366338	0.13324	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.19	1.74	0.23636	1.717000	0.37612	.	.	0.469000	0.21855	0.004000	0.16614	0.031000	0.21272	0.004000	0.06068	0.1742:0.7234:0.0:0.1024	6.774	0.22797	793	0.45818	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	1311.98	38	chr19	11447718	.	C	T	1311.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.416;DP=888;ExcessHet=0.0000;FS=0.691;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.41;ReadPosRankSum=0.656;SOR=0.609	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr19	11487712	11487712	C	T	exonic	ZNF653	.	nonsynonymous SNV	ZNF653:NM_138783:exon4:c.G751A:p.V251M,	.	.	427	1082	13	0	0	13	0.00597152	.	.	2811599	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.066	B	0.007	B	0.666	N	0.592	N	-0.345	N	2.8	T	-1.079	T	0.009	T	0.185	1.080	9.411	3.2	2.210	0.664	6.927	0.052	0.00620692297086	0.0048	0.00179712	0.0045	0.0033	0.0018	0	0.0064	0.0061	0.0034	0.0026	0.0044566	689	154602	rs140179197	0.0056	0.0056	0.0055	0.0056	0.0065	0.0055	0.0054	0.0063	0.0063	0.0038	0.0021	7.656e-05	0	0.0052	0.0024	0.0065	0.0043	0.0025	0.0042	0.0042	0.0044	0.0040	0.0061	0.0039	0.0038	0.0056	0.0055	0.0033	0	0.0018	0.0003	0	0.0036	0	0.0061	0.0024	0.0025	0.145	0.25154	T	0.104	0.38160	T	0.066	0.23586	B	0.007	0.12992	B	0.665997	0.10385	N	0.848002	0.592312	0.31009	N	0.345	0.11182	N	2.8	0.11082	T	0.24	0.04533	N	0.238	0.26837	-1.0795	0.07446	T	0.009	0.03403	T	10	0.005102366	0.00110	T	0.006207	0.16288	T	0.052	0.14661	.	.	0.340032825777	0.33618	0.2615099889713293	0.26063	0.191270352614	0.21451	0.576436936855	0.49583	T	0.023085	0.17685	T	-0.586708	0.00176	T	-0.609569	0.12020	T	0.00482236284443729	0.00052	T	0.729627	0.34527	T	0.065100916	0.13880	0.062361695	0.12187	0.065100916	0.13880	0.062361695	0.12187	-4.897	0.35701	T	.	.	0.166	0.36673	B	.	.	2.053901	0.26112	17.00	0.97824821111115767	0.36220	0.49554	0.28460	N	AEFDGBI	0.074435	0.14919	N	-0.38601774951174	0.25967	1.413592	-0.212332017260941	0.31092	1.756436	0.00193273689787783	0.09019	0.700653	0.57754	0	0.653731	0.59785	0	0.717052	0.78885	0	0.699875	0.68795	0	.	.	4.49	3.2	0.35826	0.887000	0.27891	.	.	0.591000	0.32079	0.973000	0.34540	0.000000	0.08366	0.978000	0.57271	0.0:0.7833:0.0:0.2167	6.927	0.23598	730	0.54327	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1809.98	95	chr19	11487712	.	C	T	1809.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.535;DP=952;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.25;ReadPosRankSum=0.517;SOR=0.666	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1217	20	0	1	0
chr19	11487787	11487787	-	CGCTGC	exonic	ZNF653	.	nonframeshift insertion	ZNF653:NM_138783:exon4:c.675_676insGCAGCG:p.A225_T226insAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0046	.	0.0012	0.0140	0.0008	0	0	0.0001	0	6.136e-05	0.0001537	4	26028	rs753802978	0.0007	0.0007	0.0007	0.0006	0.0169	0.0006	0.0006	0.0157	0.0153	0.0169	0.0014	0	2.52e-05	1.925e-05	0.0003	0.0002	0.0012	6.962e-05	0.0047	0.0048	0.0051	0.0043	0.0162	0.0044	0.0043	0.0152	0.0148	0.0162	0	0.0019	0	0	0	0	0.0001	0.0047	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1269.94	40	chr19	11487787	.	T	TCGCTGC	1269.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.600;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.54;ReadPosRankSum=-2.600e-02;SOR=0.746	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1217	20	0	1	0
chr19	11506264	11506264	C	T	exonic	ECSIT	.	nonsynonymous SNV	ECSIT:NM_001142465:exon6:c.G574A:p.G192R	.	.	411	1108	3	0	0	3	0.00135196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.043	B	0.035	B	0.002	N	1.000	N	0.49	N	1.51	T	-1.036	T	0.005	T	0.105	1.669	11.54	3.28	0.648	0.375	7.627	0.017	.	.	0.0111821	0.0057	0.0003	0.0079	0.0558	0.0027	0.0006	0.0035	0.0024	0.0050387	779	154602	rs2302971	0.0026	0.0026	0.0025	0.0026	0.0653	0.0025	0.0025	0.0632	0.0623	5.974e-05	0.0070	7.656e-05	0.0653	0.0024	0.0009	0.0003	0.0035	0.0024	0.0031	0.0032	0.0025	0.0037	0.0595	0.0029	0.0028	0.0540	0.0519	7.214e-05	0	0.0061	0	0.0595	0.0015	0	0.0005	0.0014	0.0046	0.149	0.24758	T	0.244	0.29346	T	0.003	0.11197	B	0.002	0.06944	B	0.001780	0.38052	N	0.280522	1	0.20667	N	1.04	0.26193	L	1.5	0.31205	T	-0.57	0.17210	N	0.084	0.06059	-1.0355	0.18700	T	0.005	0.01761	T	10	0.0024538934	0.00037	T	.	.	.	0.017	0.02790	0.084	0.00795	0.0482279557977	0.04254	0.32028917079175706	0.31941	0.561034986684	0.52614	0.433236062527	0.29651	T	0.043291	0.26455	T	-0.64728	0.00075	T	-0.649096	0.09018	T	0.0112842093174963	0.00167	T	0.533547	0.19007	T	0.03981509	0.05566	0.10961885	0.26422	0.03981509	0.05566	0.10961885	0.26421	-4.076	0.24935	T	.	.	0.122	0.25462	B	.;.	.;.	1.173982	0.15638	12.00	0.84522951852848949	0.15341	0.03065	0.07972	N	ALL	0.088628	0.17966	N	-1.06238956282191	0.07346	0.340974	-1.02423082859738	0.09253	0.4593129	0.999999560618637	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.4	3.28	0.36691	0.520000	0.22586	.	.	-0.264000	0.06851	0.000000	0.06391	0.000000	0.08366	0.041000	0.14368	0.0:0.8011:0.0:0.1989	7.627	0.27383	759	0.50631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	880.98	34	chr19	11506264	.	C	T	880.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.760e-01;DP=760;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=0.496;SOR=0.787	GT:AD:DP:GQ:PL	0/1:34,38:72:99:895,0,812	20	0	1	0
chr19	11508012	11508012	G	A	exonic	ECSIT	.	nonsynonymous SNV	ECSIT:NM_001142465:exon3:c.C133T:p.P45S	.	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.999	D	0.964	D	0.180	N	1.000	N	2.14	M	1.53	T	-0.418	T	0.499	T	0.206	2.691	14.96	0.079	0.001	0.523	11.745	0.219	0.0449618111893	.	.	3.296e-05	0	0	0.0001	0	1.499e-05	0.0011	6.056e-05	2.59e-05	4	154602	rs139421495	3.831e-05	3.831e-05	3.539e-05	4.125e-05	0.0003	3.025e-05	2.719e-05	9.791e-05	7.838e-05	0	0	0	2.519e-05	0	0.0003	2.968e-05	9.934e-05	0.0002	7.222e-05	7.218e-05	8.993e-05	5.372e-05	0.0001	3.968e-05	3.125e-05	7.908e-05	5.994e-05	2.406e-05	0	0	0	0	0	0	0.0001	0	0	0.111	0.35537	T	0.834	0.92824	T	0.203	0.40458	B	0.085	0.40037	B	0.179596	0.17140	N	0.608840	1	0.08975	N	2.83	0.82355	M	-1.06	0.76819	T	-1.42	0.37375	N	0.174	0.32591	-0.4177	0.71466	T	0.499	0.81077	T	10	0.121964484	0.23130	T	0.044962	0.61750	D	0.219	0.51417	0.547	0.66156	0.578975642517	0.57568	0.43119860357303813	0.43036	0.422747882419	0.42762	0.328441977501	0.14698	T	0.087085	0.37864	T	-0.269597	0.11803	T	-0.328842	0.41597	T	0.165174812078476	0.18245	T	0.827017	0.49388	T	0.064168386	0.13588	0.071718484	0.15391	0.064168386	0.13587	0.071718484	0.15391	-3.958	0.23173	T	.	.	0.073	0.18787	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.943857	0.13196	9.697	0.99530131090620755	0.69839	0.12216	0.17132	N	AEFBI	0.056915	0.10561	N	-0.599633327750964	0.18956	0.9883448	-0.75427182022691	0.15617	0.8222667	0.889302139539994	0.25809	0.706298	0.61202	0	0.702456	0.74545	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	3.81	0.079	0.13727	0.474000	0.21858	.	.	0.676000	0.76740	0.363000	0.25867	0.999000	0.35428	0.550000	0.30174	0.0:0.5298:0.4702:0.0	11.745	0.51080	759	0.50631	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1019.98	39	chr19	11508012	.	G	A	1019.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=866;ExcessHet=0.0000;FS=2.583;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.53;ReadPosRankSum=-8.330e-01;SOR=0.978	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,103,1461	20	0	1	0
chr19	11547824	11547824	G	A	exonic	CNN1	.	nonsynonymous SNV	CNN1:NM_001299:exon5:c.G418A:p.V140M	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.099	B	0.009	B	0.641	N	0.691	D	-0.69	N	0.06	T	-0.964	T	0.063	T	0.078	2.331	13.75	3.7	2.214	1.207	7.434	0.063	0.0182162956101	0.0012	0.00119808	0.0006	0.0029	0.0005	0	0	0.0005	0	0.0001	0.0005045	78	154602	rs144115537	0.0003	0.0003	0.0003	0.0003	0.0023	0.0003	0.0003	0.0019	0.0017	0.0023	0.0008	0.0037	2.52e-05	0	0.0010	0.0002	0.0010	6.957e-05	0.0011	0.0011	0.0013	0.0009	0.0028	0.0010	0.0009	0.0024	0.0022	0.0028	0	0.0022	0.0023	0.0002	0	0	0.0001	0.0009	0	0.031	0.45039	D	0.058	0.46182	T	0.099	0.25639	B	0.009	0.14300	B	0.640758	0.10601	N	0.842863	0.69126	0.33329	D	0.895	0.22405	L	0.06	0.61798	T	-1.32	0.35194	N	0.085	0.06990	-0.9637	0.38468	T	0.063	0.26101	T	10	0.008185297	0.00186	T	0.018216	0.40210	T	0.063	0.18251	.	.	0.313793572803	0.30980	0.40574108367520156	0.40490	0.546196756565	0.51621	0.710522651672	0.68669	T	0.221504	0.58509	T	-0.509148	0.00508	T	-0.50781	0.21541	T	0.00376982432899271	0.00040	T	0.924208	0.72903	D	0.089021	0.20785	0.09643904	0.22915	0.089021	0.20785	0.09643904	0.22915	-6.94	0.53595	T	.	.	0.184	0.40794	B	.;.;.;.	.;.;.;.	3.899481	0.56795	23.8	0.99571362121217477	0.72440	0.41538	0.26679	N	AEFBI	0.212386	0.33808	N	-0.394954581765796	0.25647	1.393864	-0.199071542677769	0.31572	1.787955	0.0283113514190697	0.13824	0.675385	0.55134	0	0.588066	0.40923	0	0.693117	0.63056	0	0.562822	0.20929	0	.	.	4.76	3.7	0.41607	1.287000	0.32889	.	.	0.660000	0.55035	0.759000	0.29231	1.000000	0.68203	0.821000	0.38685	0.2614:0.0:0.7386:0.0	7.434	0.26317	807	0.43470	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1000.98	33	chr19	11547824	.	G	A	1000.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.22;DP=770;ExcessHet=0.0000;FS=1.893;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=0.594;SOR=0.968	GT:AD:DP:GQ:PL	0/1:36,39:75:99:1015,0,845	20	0	1	0
chr19	11806980	11806980	C	T	exonic	ZNF491	.	stopgain	ZNF491:NM_152356:exon3:c.C1027T:p.R343X,	.	.	399	1122	1	0	0	1	0.000445434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.172	21.6	0.874	0.784	-0.753	6.256	.	.	.	.	8.298e-06	0	8.651e-05	0	0	0	0	0	6.5e-06	1	154602	rs377331762	6.846e-06	6.84e-06	6.811e-06	6.881e-06	2.247e-05	3.46e-06	2.52e-06	3.1e-06	2.24e-06	0	2.247e-05	0	0	0	0	7.197e-06	1.657e-05	0	1.314e-05	1.313e-05	0	2.689e-05	2.942e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99996	0.52935	D	.	.	.	.	.	.	.	.	.	0.03	0.00717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261997	0.79712	D	0.221429	0.84247	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.743748	0.93344	33	0.95172417754346905	0.26331	0.00005	0.00104	N	AEFDBHCI	0.028908	0.02632	N	-0.0729854780811356	0.38580	2.261795	-0.513282888124042	0.21792	1.180561	1.43374790895349E-5	0.02871	0.553676	0.25195	0	0.588066	0.40923	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	0.874	0.874	0.18260	-3.265000	0.00591	.	.	-1.061000	0.01617	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4442:0.5558:0.0	6.256	0.20083	934	0.15400	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1257.98	34	chr19	11806980	.	C	T	1257.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.878;DP=812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=0.712;SOR=0.737	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1127	20	0	1	0
chr19	11830347	11830347	T	C	exonic	ZNF440	.	nonsynonymous SNV	ZNF440:NM_152357:exon2:c.T68C:p.I23T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.947	P	0.796	P	.	.	1.000	N	-1.08	N	4.75	T	-0.895	T	0.002	T	0.278	1.451	10.80	-3.41	-0.040	-1.177	3.920	0.079	.	0.0072	0.0091853	0.0019	0.0208	0.0010	0	0	8.991e-05	0	0	0.0019275	298	154602	rs189408754	0.0006	0.0006	0.0008	0.0005	0.0210	0.0006	0.0006	0.0197	0.0192	0.0210	0.0007	0	0	0	0.0033	7.464e-05	0.0018	0	0.0056	0.0056	0.0056	0.0056	0.0197	0.0053	0.0052	0.0186	0.0181	0.0197	0	0.0016	0	0	0	0.0068	0.0001	0.0019	0	0.088	0.63226	T	0.012	0.63918	D	0.947	0.53479	P	0.796	0.58006	P	.	.	.	.	1	0.08975	N	-1.135	0.00931	N	4.75	0.01589	T	0.65	0.02598	N	0.208	0.23125	-0.8948	0.48502	T	0.002	0.00646	T	9	0.0033557415	0.00058	T	.	.	.	0.079	0.23065	.	.	0.0401082797425	0.02173	0.020195497461130772	0.01972	0.27316233211	0.29818	0.27852243185	0.07288	T	0.001285	0.00766	T	-0.54193	0.00326	T	-0.534302	0.18859	T	0.0604422312699271	0.07238	T	0.125587	0.00989	T	0.066328056	0.14260	0.11500974	0.27761	0.066328056	0.14259	0.11500974	0.27761	-2.016	0.03242	T	.	.	0.175	0.38227	B	.;.;.	.;.;.	1.454734	0.18762	13.91	0.91513094169479792	0.20788	0.00126	0.00785	N	AEFBI	0.012398	0.00134	N	-1.21816471668593	0.04737	0.2144125	-1.4092032081151	0.03160	0.1468281	3.59743532778547E-5	0.03775	0.372202	0.05800	0	0.546412	0.12157	0	0.446627	0.06593	0	0.491896	0.07777	0	.	.	1.74	-3.41	0.04535	-0.743000	0.04950	.	.	-0.420000	0.05233	0.000000	0.06391	0.000000	0.08366	0.176000	0.21171	0.2191:0.6021:0.0:0.1787	3.920	0.08741	934	0.15400	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3138.98	37	chr19	11830347	.	T	C	3138.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=1076;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=1.18;QD=10.29;ReadPosRankSum=0.938;SOR=0.714	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr19	11905266	11905266	G	C	exonic	ZNF69	.	nonsynonymous SNV	ZNF69:NM_001364730:exon4:c.G869C:p.C290S	.	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	.	.	2.61	T	-0.964	T	0.010	T	0.064	-2.849	0	-1.86	-0.874	-0.569	3.354	0.006	0.000267253689061	.	0.000199681	0.0004	0.0002	8.667e-05	0	0	0.0003	0	0.0018	0.0003622	56	154602	rs536718864	0.0004	0.0004	0.0003	0.0005	0.0019	0.0003	0.0003	0.0017	0.0016	8.961e-05	0.0002	0	0	5.617e-05	0.0014	0.0003	0.0005	0.0019	0.0003	0.0003	0.0003	0.0003	0.0023	0.0002	0.0002	0.0013	0.0010	0.0001	0	6.548e-05	0	0.0002	0	0	0.0003	0.0010	0.0023	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.94	0.01278	N	2.61	0.13095	T	2.85	0.00163	N	0.096	0.07673	-0.9635	0.38507	T	0.010	0.03673	T	6	0.009274304	0.00209	T	2.67E-4	0.00015	T	0.006	0.00375	0.325	0.30711	0.0482279557977	0.04254	.	.	.	.	.	.	.	0.004	0.03413	T	-0.745824	0.00019	T	-0.850577	0.00952	T	0.016342965439987	0.00404	T	8.38023E-5	0.00000	T	0.03189554	0.03113	0.07666819	0.17005	0.03189554	0.03113	0.07666819	0.17005	-1.26	0.01339	T	.	.	0.321	0.54587	B	.	.	-1.226807	0.00504	0.011	0.18481938656796554	0.00583	0.00001	0.00044	N	AEFBCI	.	.	.	-1.26343885944335	0.04125	0.1855768	-1.48704411482754	0.02450	0.1127106	1.77856831759023E-5	0.02871	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	0.931	-1.86	0.07340	-4.033000	0.00349	.	.	-0.750000	0.03597	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4377:0.218:0.3443:0.0	3.354	0.06743	934	0.15400	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4056.98	42	chr19	11905266	.	G	C	4056.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.235e+00;DP=1027;ExcessHet=0.0000;FS=0.843;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.95;MQRankSum=0.943;QD=12.56;ReadPosRankSum=-2.024e+00;SOR=0.764	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1197	20	0	1	0
chr19	11906039	11906039	G	C	exonic	ZNF69	.	nonsynonymous SNV	ZNF69:NM_001364730:exon4:c.G1642C:p.V548L	.	.	420	1099	2	1	0	4	0.00181653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	.	.	.	.	.	.	1.000	N	.	.	2.5	T	-0.941	T	0.013	T	0.053	-1.063	0.180	-2.71	-0.768	-12.541	4.032	0.001	0.000324943837177	.	0.000599042	0.0003	0	0	0	0	6.033e-05	0	0.0020	0.0002587	40	154602	rs202060545	0.0001	0.0001	6.809e-05	0.0002	0.0026	0.0001	0.0001	0.0016	0.0013	0	2.244e-05	0	0	0	0.0026	1.709e-05	0.0003	0.0015	8.566e-05	8.541e-05	7.735e-05	9.436e-05	0.0021	4.971e-05	3.973e-05	0.0011	0.0009	0	0	0	0	0	0	0	4.417e-05	0	0.0021	0.432	0.09486	T	0.53	0.10103	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.265	0.03777	N	2.5	0.14408	T	-0.14	0.09135	N	0.07	0.04307	-0.9412	0.42426	T	0.013	0.04890	T	6	0.010077745	0.00226	T	3.25E-4	0.00031	T	0.001	0.00016	0.43	0.47843	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.003593	0.03000	T	-0.738297	0.00021	T	-0.857916	0.00865	T	0.0142603744471639	0.00283	T	0.0534947	0.00382	T	0.029335935	0.02411	0.033787157	0.02332	0.029335935	0.02411	0.033787157	0.02332	-2.501	0.05788	T	.	.	0.340	0.55923	A	.	.	-0.895926	0.00932	0.035	0.40174222169369039	0.02819	0.00001	0.00044	N	AEFBHCI	.	.	.	-1.79734192705202	0.00551	0.02375106	-2.02492024328055	0.00271	0.01196185	7.19797375346599E-4	0.07685	0.553676	0.25195	0	0.588015	0.36545	0	0.575934	0.27490	0	0.567892	0.33627	0	.	.	1.35	-2.71	0.05633	-7.972000	0.00034	.	.	-2.836000	0.00176	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2021:0.0:0.6025:0.1954	4.032	0.09197	934	0.15400	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2400.98	42	chr19	11906039	.	G	C	2400.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.14;DP=882;ExcessHet=0.0000;FS=6.396;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=1.02;SOR=0.850	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1197	20	0	1	0
chr19	12076870	12076870	A	T	exonic	ZNF844	.	nonsynonymous SNV	ZNF844:NM_001136501:exon4:c.A1750T:p.M584L,	.	.	.	.	.	.	.	.	.	.	.	716164	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.016	B	0.003	B	.	.	0.997	N	0	N	3.48	T	-0.951	T	0.004	T	0.131	-1.605	0.014	-2.59	-1.001	1.942	3.563	0.090	.	0.0046	0.00499201	0.0028	0.0244	0.0011	0	0	0.0004	0	0	0.0011061	171	154602	rs1438694	0.0005	0.0005	0.0005	0.0004	0.0144	0.0005	0.0004	0.0133	0.0128	0.0144	0.0006	0	0	0	0.0012	0.0001	0.0011	1.234e-05	0.0039	0.0039	0.0039	0.0039	0.0134	0.0036	0.0035	0.0125	0.0121	0.0134	0	0.0009	0	0	0	0.0034	0.0001	0.0033	0	0.028	0.46129	D	0.061	0.45530	T	0.016	0.17332	B	0.003	0.08700	B	.	.	.	.	1	0.22709	N	0	0.06538	N	3.48	0.05130	T	-0.11	0.08653	N	0.142	0.14196	-0.9507	0.40851	T	0.004	0.01400	T	9	0.003086567	0.00051	T	.	.	.	0.090	0.26093	0.29	0.25081	0.0138822411134	0.00435	0.02393644028619184	0.02344	0.0108702573359	0.01009	0.246389761567	0.03397	T	0.00148	0.00934	T	-0.648406	0.00074	T	-0.690541	0.06358	T	0.00120895016004581	0.00012	T	0.257774	0.04077	T	0.1828446	0.39523	0.10088446	0.24136	0.1828446	0.39522	0.10088446	0.24135	-3.115	0.11469	T	.	.	0.137	0.29860	B	.	.	0.122866	0.05201	1.712	0.26974189556124267	0.01317	0.00000	0.00017	N	AEFDBCI	.	.	.	-1.27653048521652	0.03960	0.1778521	-1.37520041902526	0.03518	0.1642742	5.50212493706249E-4	0.07273	0.651	0.46895	0	0.708844	0.79440	0	0.575934	0.27490	0	0.491896	0.07777	0	.	.	2.04	-2.59	0.05847	0.178000	0.16634	.	.	0.263000	0.18423	0.001000	0.13787	0.000000	0.08366	0.273000	0.23843	0.4304:0.0:0.3878:0.1818	3.563	0.07443	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1844.98	34	chr19	12076870	.	A	T	1844.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.203;DP=1462;ExcessHet=0.0000;FS=1.222;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=0.678;SOR=0.834	GT:AD:DP:GQ:PL	0/0:114,0:114:99:0,120,1800	20	0	1	0
chr19	12145436	12145436	C	A	exonic	ZNF625	.	nonsynonymous SNV	ZNF625:NM_145233:exon4:c.G980T:p.G327V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	.	.	1.000	D	2.87	M	4.74	T	-1.119	T	0.024	T	0.387	3.231	16.83	1.13	0.933	0.526	8.135	0.070	0.00921356210122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	0.999999	0.81001	D	.	.	.	4.74	0.01604	T	-8.08	0.96650	D	0.322	0.36254	-1.1190	0.02395	T	0.024	0.10058	T	9	0.28117174	0.45693	T	0.009214	0.24201	T	0.070	0.20419	.	.	0.387202362727	0.38337	0.014718027190246539	0.01428	1.46662889	0.86454	0.307346314192	0.11506	T	.	.	.	-0.152395	0.27938	T	-0.456682	0.26962	T	0.978127121925354	0.72173	D	0.070293	0.00512	T	.	.	.	.	.	.	.	.	-9.698	0.72084	D	.	.	0.889	0.82035	P	.	.	1.943143	0.24678	16.49	0.9938517383676313	0.62068	0.13413	0.17842	N	AEFBHCI	0.086592	0.17557	N	-0.082708758537272	0.38151	2.230083	-0.37715886009903	0.25679	1.413684	0.784413555268316	0.23903	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	1.13	1.13	0.19758	0.292000	0.18766	.	.	0.313000	0.19204	0.000000	0.06391	0.000000	0.08366	0.632000	0.32210	0.0:1.0:0.0:0.0	8.135	0.30210	929	0.16858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2249.98	46	chr19	12145436	.	C	A	2249.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.205e+00;DP=946;ExcessHet=0.0000;FS=1.687;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=0.860;SOR=0.572	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1262	20	0	1	0
chr19	12186577	12186577	A	G	exonic	ZNF136	.	startloss	ZNF136:NM_001348013:exon3:c.A1G:p.M1?	.	.	424	1091	7	0	0	7	0.00319781	.	.	2382965	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.34	T	0.141	B	0.035	B	.	.	1.000	D	0.515	N	3.47	T	-1.025	T	0.025	T	0.296	0.016	4.099	0.363	0.047	0.020	4.576	0.015	0.00407906167823	0.0003	0.000399361	0.0002	0	0.0003	0	0	0.0002	0	0.0002	0.0001682	26	154602	rs140861589	0.0002	0.0002	0.0002	0.0002	0.0079	0.0002	0.0002	0.0061	0.0054	9.109e-05	7.012e-05	0.0014	0	0	0.0079	0.0001	0.0007	0.0004	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	8.711e-05	7.296e-05	3.031e-05	2.404e-05	0	0.0001	0.0026	0	0	0.0068	8.821e-05	0.0005	0.0004	0.156	0.24090	T	0.344	0.25286	T	0.141	0.27581	B	0.035	0.22741	B	.	.	.	.	1	0.81001	D	0.515	0.13537	N	1.96	0.22270	T	-1.46	0.35792	N	0.074	0.04790	-1.0246	0.22214	T	0.025	0.10688	T	9	0.010525525	0.00308	T	0.004079	0.09744	T	0.015	0.02232	.	.	0.136095386433	0.13204	0.02594741067783428	0.02545	0.210819982291	0.23580	0.342850655317	0.16864	T	0.025242	0.29327	T	-0.436255	0.01361	T	-0.55701	0.16659	T	0.0194774415243527	0.00651	T	0.510849	0.65058	T	0.10586514	0.25032	0.07442993	0.16281	0.10586514	0.25032	0.07442993	0.16281	-5.279	0.39734	T	.	.	0.071	0.18122	B	.;.;.	.;.;.	0.695747	0.10646	7.344	0.39123735558990769	0.02680	0.03557	0.08760	N	AEFDBI	0.021713	0.00998	N	-1.10345153242674	0.06582	0.3033817	-1.20417378113001	0.05843	0.2795301	0.00805140155473635	0.11601	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	1.4	0.363	0.15353	-1.348000	0.02736	.	.	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.076000	0.17014	0.8008:0.0:0.1992:0.0	4.576	0.11627	929	0.16858	.;.;Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	593.98	35	chr19	12186577	.	A	G	593.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.78;DP=758;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=-7.460e-01;SOR=0.665	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1152	20	0	1	0
chr19	12350857	12350857	C	G	exonic	ZNF442	.	nonsynonymous SNV	ZNF442:NM_001363774:exon3:c.G521C:p.C174S	.	.	413	1105	4	0	0	4	0.00180668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.0	B	0.0	B	.	.	1.000	N	-2.055	N	2.57	T	-0.930	T	0.007	T	0.035	-1.892	0.008	-1.66	-3.099	-1.299	4.805	0.058	0.000822732096047	.	.	7.414e-05	0	0	0	0	4.495e-05	0.0011	0.0003	6.47e-05	10	154602	rs757755988	5.951e-05	5.951e-05	5.037e-05	6.876e-05	0.0019	4.883e-05	4.561e-05	0.0011	0.0008	2.987e-05	2.236e-05	0	2.52e-05	0	0.0019	4.407e-05	9.935e-05	0.0002	3.945e-05	3.941e-05	3.857e-05	4.037e-05	0.0004	1.716e-05	1.13e-05	7.299e-05	3.032e-05	4.83e-05	0	0	0	0	0	0.0032	1.47e-05	0	0.0004	0.367	0.11659	T	0.108	0.37589	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.32	0.00691	N	2.57	0.13552	T	3.57	0.00095	N	0.024	0.03841	-0.9304	0.44080	T	0.007	0.02518	T	9	0.014636844	0.00308	T	8.23E-4	0.00670	T	0.058	0.16647	0.699	0.83592	0.0762999501168	0.06990	0.0056496908278823674	0.00534	0.0714209987842	0.07995	0.238281339407	0.02638	T	0.003459	0.02869	T	-0.629171	0.00097	T	-0.845345	0.01021	T	0.0442284124638147	0.04463	T	0.0357298	0.00319	T	0.034992523	0.04035	0.08343174	0.19118	0.034992523	0.04034	0.08343174	0.19118	-0.129	0.00422	T	.	.	0.092	0.15070	B	.;.;.	.;.;.	-0.558204	0.01690	0.122	0.42410813545902049	0.03124	0.00011	0.00159	N	AEFDBCI	0.078044	0.15737	N	-2.4540855109982	0.00020	0.0008801544	-2.45067687297981	0.00030	0.001326573	0.105874724600331	0.16514	0.553676	0.25195	0	0.588015	0.36545	0	0.463624	0.06942	0	0.727631	0.95156	0	.	.	0.832	-1.66	0.07824	0.139000	0.15858	.	.	-1.992000	0.00454	0.004000	0.16614	0.000000	0.08366	0.671000	0.33280	0.3218:0.3586:0.3196:0.0	4.805	0.12684	923	0.18507	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	4019.98	33	chr19	12350857	.	C	G	4019.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.800e-01;DP=1006;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.27;ReadPosRankSum=0.466;SOR=0.682	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1237	20	0	1	0
chr19	12351287	12351287	G	A	exonic	ZNF442	.	nonsynonymous SNV	ZNF442:NM_001363774:exon3:c.C91T:p.R31C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.229	B	0.009	B	.	.	1.000	N	1.04	L	4.03	T	-0.965	T	0.010	T	0.06	0.370	6.011	-3.03	-0.932	0.029	0.622	0.021	0.00111319877763	0.0015	.	0.0006	0.0046	0.0004	0	0	0.0003	0.0011	0	0.0004851	75	154602	rs140568989	0.0002	0.0002	0.0002	0.0002	0.0040	0.0002	0.0002	0.0035	0.0032	0.0040	0.0006	0	0	0	0.0014	0.0001	0.0006	0	0.0012	0.0012	0.0011	0.0013	0.0038	0.0010	0.0010	0.0033	0.0031	0.0038	0	0.0007	0	0	0	0.0034	0.0001	0.0014	0	0.001	0.91255	D	0.093	0.74150	T	0.229	0.30546	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	0.29	0.10111	N	3.38	0.06214	T	-3.15	0.64132	D	0.078	0.12484	-0.9648	0.38250	T	0.010	0.03765	T	9	0.0055959225	0.00124	T	0.001113	0.01336	T	0.021	0.04004	.	.	0.132336055621	0.12781	0.0361218227572569	0.03559	0.133363826613	0.15016	0.307441800833	0.11521	T	0.020217	0.15960	T	-0.657751	0.00065	T	-0.717734	0.04906	T	0.025537372383297	0.01343	T	0.313969	0.15921	T	0.11909743	0.28048	0.11636147	0.28090	0.11909743	0.28048	0.11636147	0.28089	-6.215	0.48044	T	.	.	0.096	0.36053	B	.;.;.;.	.;.;.;.	1.423140	0.18405	13.72	0.74188282987068288	0.10603	0.00007	0.00120	N	AEFBCI	0.028845	0.02616	N	-1.39179740925987	0.02714	0.1202485	-1.54573055206153	0.02005	0.09163101	2.65028868752189E-5	0.03498	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.51	-3.03	0.05100	0.805000	0.26772	.	.	-0.550000	0.04901	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.2055:0.3401:0.2097:0.2447	0.622	0.00729	923	0.18507	Krueppel-associated box;.;Krueppel-associated box;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1720.98	33	chr19	12351287	.	G	A	1720.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=803;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.87;ReadPosRankSum=-3.910e-01;SOR=0.677	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1237	20	0	1	0
chr19	12391679	12391679	T	C	exonic	ZNF799	.	nonsynonymous SNV	ZNF799:NM_001080821:exon4:c.A719G:p.Y240C	.	.	421	1087	14	0	0	14	0.00639854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.995	D	0.971	D	.	.	1.000	N	1.19	L	2.16	T	-1.041	T	0.066	T	0.231	1.435	10.74	-1.7	-0.667	-1.147	2.659	0.046	.	0.0002	0.00519169	0.0040	0.0001	0.0015	0.0005	0	0.0008	0.0088	0.0241	0.0034217	529	154602	rs199602674	0.0019	0.0019	0.0013	0.0026	0.0224	0.0019	0.0018	0.0216	0.0212	0.0001	0.0009	0.0047	2.521e-05	0	0.0028	0.0005	0.0022	0.0224	0.0011	0.0011	0.0009	0.0014	0.0199	0.0010	0.0010	0.0167	0.0155	2.408e-05	0	0.0005	0.0037	0.0002	9.43e-05	0.0034	0.0008	0.0009	0.0199	0.004	0.65419	D	0.008	0.83351	D	0.995	0.67487	D	0.971	0.72444	D	.	.	.	.	1	0.08975	N	0.835	0.21042	L	2.16	0.19166	T	-3.12	0.63782	D	0.178	0.19190	-1.0412	0.16951	T	0.066	0.27330	T	9	0.0033819377	0.00059	T	.	.	.	0.046	0.12618	.	.	0.45553875121	0.45177	0.03213860612288285	0.03161	0.48509629398	0.47406	0.330924153328	0.15074	T	0.185887	0.53900	T	-0.603852	0.00138	T	-0.623248	0.10931	T	0.0835515414461699	0.10435	T	0.517648	0.19432	T	0.1136705	0.26844	0.119091146	0.28747	0.1136705	0.26844	0.119091146	0.28746	-1.794	0.02491	T	.	.	0.128	0.27702	B	.;.	.;.	2.216304	0.28277	17.74	0.96646871856328209	0.30574	0.03397	0.08510	N	AEFBCI	0.031504	0.03385	N	-0.614894736250521	0.18496	0.9607368	-0.925964452014483	0.11482	0.5852216	0.00272844478042455	0.09662	0.562547	0.31514	0	0.653731	0.59785	0	0.670488	0.60580	0	0.491896	0.07777	0	.	.	1.14	-1.7	0.07721	-1.790000	0.01856	.	.	0.347000	0.19874	0.000000	0.06391	0.000000	0.08366	0.983000	0.59808	0.5071:0.2413:0.0:0.2516	2.659	0.04714	923	0.18507	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	11853.08	132	chr19	12391679	.	T	C	11853.08	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.87;DP=3177;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=57.51;MQRankSum=2.37;QD=32.74;ReadPosRankSum=-2.390e-01;SOR=0.332	GT:AD:DP:GQ:PL	0/0:121,0:121:99:0,120,1800	20	1	0	0
chr19	12430730	12430730	A	0	exonic	ZNF443	.	.	.	.	.	412	412	423	155	120	853	0.470777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	57518.43	140	chr19	12430730	.	A	C,*	57518.43	.	AC=18,3;AF=0.429,0.071;AN=42;BaseQRankSum=-2.194e+00;DP=3284;ExcessHet=2.0051;FS=0.000;InbreedingCoeff=-0.0476;MLEAC=18,3;MLEAF=0.429,0.071;MQ=58.31;MQRankSum=-5.036e+00;QD=22.67;ReadPosRankSum=-5.040e-01;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,82,0:199:99:0|1:12430718_C_A:3091,0,4644,3443,4891,8334:12430718	5	4	10	0
chr19	12464013	12464013	C	T	exonic	ZNF709	.	nonsynonymous SNV	ZNF709:NM_152601:exon4:c.G1909A:p.V637I,	.	.	428	1082	12	0	0	12	0.00551471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	.	.	1.000	N	-0.65	N	3.07	T	-0.977	T	0.006	T	0.041	-1.840	0.009	-5.15	-2.304	0.133	7.232	0.013	0.000967509020786	0.0009	0.00159744	0.0022	0.0003	0.0002	0	0.0005	0.0025	0.0025	0.0079	0.0019081	295	154602	rs148951852	0.0015	0.0016	0.0013	0.0018	0.0089	0.0015	0.0015	0.0083	0.0080	3.385e-05	0.0001	0.0002	0	0.0013	0.0048	0.0013	0.0015	0.0089	0.0013	0.0013	0.0011	0.0014	0.0078	0.0011	0.0011	0.0058	0.0051	9.723e-05	0	0.0001	0	0	0.0014	0	0.0019	0.0005	0.0078	0.493	0.07920	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.445	0.02820	N	3.07	0.08547	T	-0.27	0.11366	N	0.018	0.00252	-0.9765	0.35794	T	0.006	0.02206	T	9	0.0040544868	0.00079	T	9.68E-4	0.01003	T	0.013	0.01715	.	.	0.0846915920261	0.08053	0.0056723854926779	0.00537	0.273427622127	0.29844	0.326258182526	0.14368	T	0.023265	0.17791	T	-0.760131	0.00015	T	-0.858537	0.00859	T	0.000625639478516926	0.00006	T	0.0748925	0.00548	T	0.019713074	0.00507	0.067255996	0.13890	0.019713074	0.00507	0.067255996	0.13889	-0.116	0.00392	T	.	.	0.070	0.03407	B	.;.	.;.	-0.646390	0.01450	0.088	0.72995583462683189	0.10170	0.01503	0.04977	N	AEFDBCI	0.019548	0.00689	N	-2.09860675845974	0.00129	0.005526622	-2.13964118378213	0.00153	0.006710481	0.0055880345274098	0.10984	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	2.57	-5.15	0.02648	-0.764000	0.04841	.	.	-0.870000	0.02561	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.1176:0.4568:0.0:0.4256	7.232	0.25224	923	0.18507	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2731.11	40	chr19	12464013	.	C	T	2731.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.18;DP=1163;ExcessHet=0.1072;FS=5.874;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=-2.330e-01;SOR=1.085	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	19	0	2	0
chr19	12465275	12465275	C	G	exonic	ZNF709	.	nonsynonymous SNV	ZNF709:NM_152601:exon4:c.G647C:p.R216T,	.	.	389	1131	2	0	0	2	0.000883392	.	.	2274307	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.997	D	0.9	P	0.229	N	1.000	N	2.515	M	1.8	T	-1.028	T	0.107	T	0.239	3.805	19.32	-4.01	-0.794	-0.403	5.130	0.071	0.00133890963225	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1398482487	1.369e-06	1.368e-06	1.362e-06	1.376e-06	8.996e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	1.657e-05	0	6.583e-06	6.571e-06	0	1.348e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.032	0.44694	D	0.012	0.63918	D	0.997	0.70673	D	0.9	0.63913	P	0.229331	0.15956	N	0.457386	1	0.08975	N	1.66	0.42513	L	1.8	0.25344	T	-3.31	0.65972	D	0.19	0.22098	-1.0284	0.20973	T	0.107	0.38979	T	10	0.218216	0.38456	T	0.001339	0.01910	T	0.071	0.20720	0.621	0.75576	0.446813524615	0.44301	0.05283859166054246	0.05225	1.04302437704	0.75864	0.283849090338	0.08035	T	0.147733	0.48596	T	-0.231871	0.16402	T	-0.570843	0.15373	T	0.948171496391296	0.62838	D	0.570043	0.20293	T	0.10366457	0.24503	0.069469675	0.14641	0.10366457	0.24503	0.069469675	0.14641	-6.581	0.50907	T	.	.	0.716	0.73625	P	.;.	.;.	1.875123	0.23817	16.16	0.97555852658281395	0.34593	0.00002	0.00064	N	AEFBHCI	0.058635	0.11015	N	-0.382892206130096	0.26079	1.420525	-0.703731692766706	0.16867	0.8943312	6.63739893249886E-5	0.04366	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	2.22	-4.01	0.03775	-1.065000	0.03569	.	.	0.523000	0.23987	0.000000	0.06391	0.109000	0.22772	0.996000	0.76049	0.4855:0.3963:0.0:0.1183	5.130	0.14235	917	0.20147	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	4039.08	40	chr19	12465275	.	C	G	4039.08	.	AC=2;AF=0.048;AN=42;DP=996;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.11;SOR=0.986	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	1	0	0
chr19	12647487	12647487	C	T	exonic	MAN2B1	.	nonsynonymous SNV	MAN2B1:NM_000528:exon22:c.G2776A:p.D926N	Mannosidosis, alpha-, types I and II, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.988	D	0.784	P	0.002	N	0.889	D	3.23	M	-1.83	D	0.668	D	0.725	D	0.065	2.710	15.02	4.75	2.769	2.319	11.420	0.405	0.0197779896522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	1.361e-06	4.125e-06	1.159e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.36509	T	0.115	0.36630	T	0.988	0.62325	D	0.784	0.57456	P	0.002260	0.36929	N	0.123762	0.889045	0.35912	D	3.165	0.88605	M	-1.83	0.84122	D	-3.02	0.62630	D	0.305	0.34444	0.668	0.92771	D	0.725	0.90565	D	10	0.52239066	0.62717	D	0.019778	0.42228	T	0.405	0.71791	0.696	0.83313	0.895487556599	0.89445	0.502381576471119	0.50160	0.40742714432	0.41602	0.415224611759	0.27179	T	0.586054	0.86518	D	-0.0780487	0.40032	T	-0.349888	0.39218	T	0.984304845333099	0.75659	D	0.836316	0.50742	T	0.21499713	0.43920	0.1508747	0.35565	0.21499713	0.43920	0.1508747	0.35564	-8.026	0.61336	D	0.32258661715773523	0.42073	0.152	0.42592	B	.;.	.;.	3.685064	0.52475	23.2	0.99828475396297278	0.91026	0.90586	0.51885	D	AEFDBCI	0.420960	0.48757	N	0.550118890506027	0.70088	5.450601	0.462596592786195	0.65530	4.835413	0.999999984878423	0.74766	0.741868	0.97996	0	0.643519	0.57511	0	0.774882	0.98623	0	0.645665	0.59343	0	.	.	5.84	4.75	0.59954	1.304000	0.33087	.	.	0.599000	0.40250	0.822000	0.30018	0.993000	0.31925	0.030000	0.13115	0.1798:0.8202:0.0:0.0	11.420	0.49219	819	0.41190	Glycosyl hydrolase family 38, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1755.98	147	chr19	12647487	.	C	T	1755.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=852;ExcessHet=0.0000;FS=0.616;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=-2.547e+00;SOR=0.597	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1193	20	0	1	0
chr19	12652193	12652193	G	A	exonic	MAN2B1	.	nonsynonymous SNV	MAN2B1:NM_000528:exon16:c.C2006T:p.P669L	Mannosidosis, alpha-, types I and II, Autosomal recessive	.	0	1516	6	0	0	6	0.00197498	.	.	215562	not_provided|not_specified|Deficiency_of_alpha-mannosidase	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500,Orphanet:61	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.08	T	0.991	D	0.636	P	0.001	D	1.000	D	1.67	L	-1.31	T	-0.361	T	0.209	T	0.52	4.113	21.2	5.65	2.656	8.265	17.213	0.594	.	0.0006	0.014976	0.0077	0.0003	0.0425	0.0460	0.0009	0.0002	0.0055	0.0007	0.0074191	1147	154602	rs75029862	0.0026	0.0026	0.0027	0.0024	0.0407	0.0025	0.0025	0.0392	0.0385	0.0003	0.0407	0.0006	0.0367	0.0008	0.0009	0.0001	0.0034	0.0010	0.0051	0.0051	0.0044	0.0058	0.0406	0.0048	0.0047	0.0361	0.0343	0.0007	0	0.0318	0.0009	0.0406	0.0007	0	0.0002	0.0076	0.0023	0.139	0.25768	T	0.167	0.30828	T	0.991	0.64070	D	0.617	0.51308	P	0.000825	0.41547	D	0.000000	1	0.81001	D	2.68	0.78455	M	-1.31	0.79666	T	-5.43	0.85323	D	0.677	0.68429	-0.3610	0.73234	T	0.209	0.56906	T	10	0.0075194538	0.00171	T	.	.	.	0.594	0.83857	.	.	0.892921864852	0.89186	0.6772282284283011	0.67661	0.579947014083	0.53851	0.351851463318	0.18194	T	0.62605	0.88347	D	-0.239098	0.15463	T	-0.0855242	0.64497	T	0.0324108664321326	0.02374	T	0.80372	0.45098	T	0.26678705	0.49749	0.42118236	0.66058	0.4030018	0.60941	0.42045087	0.66008	-6.636	0.51327	T	0.4671350749295632	0.54826	0.160	0.47524	B	.;.	.;.	4.462315	0.69459	25.4	0.98688335585902687	0.44723	0.99536	0.97188	D	AEFBI	0.892077	0.82866	D	0.449457006301833	0.64171	4.665896	0.404972605745628	0.61874	4.393775	0.999999998625453	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	8.866000	0.91909	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.445000	0.27784	0.0:0.0:1.0:0.0	17.213	0.86817	804	0.43891	Glycosyl hydrolase family 38, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1245.98	43	chr19	12652193	.	G	A	1245.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.39;ReadPosRankSum=-3.000e-01;SOR=0.716	GT:AD:DP:GQ:PL	0/1:32,44:76:99:1260,0,828	20	0	1	0
chr19	12673255	12673255	G	A	exonic	WDR83	.	nonsynonymous SNV	WDR83:NM_032332:exon8:c.G737A:p.R246H	.	.	424	1096	2	0	0	2	0.000911577	.	.	2340427	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.187	B	0.015	B	0.000	D	0.816	D	0.705	N	-1.46	T	-0.895	T	0.119	T	0.44	3.448	17.68	4.4	1.297	3.259	9.303	0.047	0.0455378726101	.	.	0.0002	0	0.0005	0.0001	0	0.0003	0	6.058e-05	0.0001876	29	154602	rs199685737	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	0.0001	0.0006	0.0004	2.987e-05	0.0003	0	0	0	0.0012	0.0002	0.0002	8.115e-05	0.0001	0.0001	0.0001	8.069e-05	0.0002	7.095e-05	5.751e-05	0.0001	8.88e-05	2.409e-05	0	0.0002	0	0	0	0	0.0002	0	0	0.066	0.36113	T	0.108	0.37589	T	0.187	0.29285	B	0.015	0.17295	B	0.000101	0.50451	D	0.174525	0.816316	0.34712	D	0.55	0.14455	N	-1.46	0.80983	T	-1.03	0.27052	N	0.452	0.48963	-0.8948	0.48502	T	0.119	0.41669	T	10	0.15356863	0.28984	T	0.045538	0.62027	D	0.209	0.49871	0.425	0.47021	0.57604792508	0.57274	0.22793021654979237	0.22708	0.829311628033	0.67554	0.436872065067	0.30150	T	0.34768	0.71577	T	-0.177782	0.24067	T	-0.195588	0.55063	T	0.0450481772422791	0.04612	T	0.910909	0.68443	D	0.036502175	0.04503	0.04003048	0.04233	0.036502175	0.04503	0.04003048	0.04233	-4.411	0.29706	T	.	.	0.100	0.17232	B	.	.	2.963104	0.39466	21.0	0.99908816198209072	0.97875	0.70790	0.34737	D	AEFDBHCI	0.163771	0.29009	N	0.0255893592396282	0.43020	2.603303	0.091596821816124	0.44123	2.70034	0.850260083033605	0.25031	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.43	4.4	0.52402	3.283000	0.51405	.	.	0.672000	0.70159	0.999000	0.42656	0.999000	0.35428	0.514000	0.29336	0.166:0.0:0.834:0.0	9.303	0.37017	735	0.53711	WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1512.98	35	chr19	12673255	.	G	A	1512.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.000e-01;DP=873;ExcessHet=0.0000;FS=0.621;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.73;ReadPosRankSum=1.55;SOR=0.780	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,111,1530	20	0	1	0
chr19	12675556	12675556	G	A	exonic	WDR83	.	nonsynonymous SNV	WDR83:NM_032332:exon9:c.G832A:p.G278S	.	.	416	1088	18	0	0	18	0.00820419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.0	B	0.001	B	0.001	N	1.000	N	0.045	N	-1.52	D	-0.939	T	0.212	T	0.306	0.845	8.415	0.135	0.105	0.538	9.274	0.143	0.0186753892185	0.0015	0.000998403	0.0019	0.0002	0.0004	0	0.0002	0.0024	0.0045	0.0033	0.0017982	278	154602	rs34373915	0.0014	0.0014	0.0013	0.0015	0.0073	0.0014	0.0013	0.0055	0.0049	0.0001	0.0010	0.0116	0	0.0001	0.0073	0.0011	0.0022	0.0032	0.0012	0.0012	0.0014	0.0011	0.0025	0.0011	0.0010	0.0014	0.0011	0.0003	0.0066	0.0013	0.0107	0	0	0.0034	0.0014	0.0014	0.0025	0.858	0.02684	T	0.635	0.07082	T	0.0	0.02946	B	0.001	0.04355	B	0.000703	0.42254	N	0.262018	1	0.08975	N	-0.315	0.03579	N	-1.52	0.81478	D	0.78	0.01921	N	0.158	0.16447	-0.9385	0.42853	T	0.212	0.57227	T	10	0.006455213	0.00146	T	0.018675	0.40822	T	0.143	0.38195	.	.	0.349204839081	0.34528	0.24874816476866465	0.24788	0.252073141098	0.27777	0.339909672737	0.16425	T	0.258725	0.62991	T	-0.413937	0.01872	T	-0.369474	0.36950	T	0.00259071070745996	0.00027	T	0.761924	0.38711	T	0.026179453	0.01642	0.038511455	0.03735	0.026179453	0.01642	0.038511455	0.03735	-4.213	0.26939	T	.	.	0.074	0.05060	B	.	.	0.334628	0.07086	3.655	0.67180728368730103	0.08278	0.22090	0.21628	N	AEFDBHCI	0.071814	0.14310	N	-1.04461181186769	0.07693	0.358285	-1.01671055272884	0.09417	0.4684347	0.584902509676839	0.21600	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.88	0.135	0.14075	0.571000	0.23372	.	.	0.618000	0.50648	0.150000	0.23655	0.000000	0.08366	0.025000	0.12405	0.4514:0.0:0.5486:0.0	9.274	0.36850	730	0.54327	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	793.98	34	chr19	12675556	.	G	A	793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=765;ExcessHet=0.0000;FS=2.657;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=1.89;SOR=0.333	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1390	20	0	1	0
chr19	12676023	12676023	G	A	exonic	DHPS	.	nonsynonymous SNV	DHPS:NM_001369691:exon8:c.C944T:p.P315L,	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	3.324e-05	9.66e-05	0	0	0	3.018e-05	0	6.227e-05	2.59e-05	4	154602	rs150173480	1.71e-05	1.71e-05	1.634e-05	1.788e-05	2.987e-05	1.174e-05	9.92e-06	1.295e-05	1.106e-05	2.987e-05	0	0	0	0	0	1.979e-05	0	2.32e-05	1.972e-05	1.97e-05	0	4.036e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.02381	1143.98	34	chr19	12676023	.	G	A	1143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.96;DP=850;ExcessHet=0.0000;FS=1.532;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.95;ReadPosRankSum=-3.780e-01;SOR=0.529	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1390	20	0	1	0
chr19	12694862	12694862	C	T	exonic	FBXW9	.	stopgain	FBXW9:NM_032301:exon2:c.G486A:p.W162X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	.	.	.	.	0.743	N	1.000	N	.	.	.	.	.	.	.	.	.	2.731	15.09	1.17	1.047	0.076	5.949	.	.	.	.	1.684e-05	0	0	0	0	3.056e-05	0	0	1.29e-05	2	154602	rs760764416	9.578e-06	9.577e-06	1.089e-05	8.251e-06	0.0003	5.56e-06	4.35e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	5.396e-06	3.312e-05	4.637e-05	1.314e-05	1.313e-05	2.568e-05	0	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	0.743343	0.06441	N	1.130820	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.208	0.23125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286266	0.81846	D	0.270279	0.86589	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.874510	0.93907	33	0.98678860696510096	0.44581	0.06307	0.12302	N	AEFDBI	0.062574	0.12037	N	0.35664967727876	0.59092	4.085848	0.0523957595476831	0.42188	2.547422	0.998092947190459	0.36419	0.634777	0.41761	0	0.694456	0.67091	0	0.643519	0.47002	0	0.669	0.65921	0	.	.	4.91	1.17	0.19998	-0.079000	0.11321	.	.	0.595000	0.32841	0.000000	0.06391	0.005000	0.19230	0.261000	0.23543	0.2187:0.6112:0.0:0.1701	5.949	0.18470	716	0.55970	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	803.98	41	chr19	12694862	.	C	T	803.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=818;ExcessHet=0.0000;FS=0.864;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.80;ReadPosRankSum=-4.990e-01;SOR=0.552	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1108	20	0	1	0
chr19	12696501	12696501	G	T	exonic	FBXW9	.	nonsynonymous SNV	FBXW9:NM_032301:exon1:c.C81A:p.D27E,	.	.	432	1081	8	1	0	10	0.00460405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.995	D	0.016	N	1.000	D	0.895	L	1.46	T	-0.878	T	0.160	T	0.401	4.000	20.5	-2.58	-0.521	0.403	4.718	0.139	0.0829890850285	0.0002	0.000399361	0.0005	0	0.0007	0	0	0.0008	0	0.0002	0.0005045	78	154602	rs151118454	0.0004	0.0004	0.0004	0.0004	0.0012	0.0004	0.0004	0.0009	0.0009	2.987e-05	0.0012	0.0095	0	1.919e-05	0.0007	0.0002	0.0011	0.0002	0.0004	0.0004	0.0005	0.0004	0.0011	0.0003	0.0003	0.0007	0.0006	0	0	0.0011	0.0072	0	0	0	0.0003	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.016498	0.27965	N	0.239573	1	0.81001	D	1.04	0.26193	L	1.46	0.50192	T	-0.6	0.17834	N	0.373	0.41459	-0.8780	0.49919	T	0.160	0.49480	T	10	0.0085065365	0.00193	T	0.082989	0.74020	D	0.139	0.37390	0.161	0.06507	0.622781533884	0.61972	0.11948807115812995	0.11875	1.30509170409	0.83107	0.765694856644	0.76779	T	.	.	.	-0.360405	0.04107	T	-0.331007	0.41357	T	0.410725176334381	0.29345	T	0.605739	0.22785	T	.	.	.	.	.	.	.	.	-2.269	0.04389	T	.	.	0.124	0.47976	B	.;.	.;.	1.855919	0.23579	16.07	0.99544605054457935	0.70711	0.33324	0.24800	N	AEFGBHCIJ	0.092356	0.18698	N	-0.284270197342057	0.29754	1.652943	-0.473108333962142	0.22897	1.245998	0.99999999998273	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.68	-2.58	0.05866	0.458000	0.21603	.	.	0.676000	0.76740	0.437000	0.26463	0.301000	0.24220	0.743000	0.35541	0.358:0.0:0.5039:0.1381	4.718	0.12286	712	0.56465	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3137.08	34	chr19	12696501	.	G	T	3137.08	.	AC=2;AF=0.048;AN=42;DP=812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.37;SOR=0.924	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,960	20	1	0	0
chr19	12737528	12737528	G	C	exonic	GET3	.	nonsynonymous SNV	GET3:NM_004317:exon1:c.G23C:p.W8S	.	.	.	.	.	.	.	.	.	.	.	3258260	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.38	T	0.02	B	0.007	B	0.000	D	1.000	D	0	N	1.03	T	-1.075	T	0.051	T	0.531	2.997	15.99	4.44	2.468	2.159	10.110	0.118	0.00880770338183	.	.	0.0003	0.0002	0.0012	0	0	0.0002	0	0.0002	0.0001358	21	154602	rs138730527	0.0001	0.0001	0.0001	0.0001	0.0004	0.0001	0.0001	0.0003	0.0003	0.0003	0.0003	0	8.184e-05	0.0002	0.0002	8.883e-05	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0004	7.572e-05	6.277e-05	7.285e-05	4.239e-05	0.0001	0	6.539e-05	0	0	9.413e-05	0	0.0001	0.0005	0.0004	0.221	0.18889	T	0.02	0.58613	D	0.02	0.18235	B	0.007	0.12992	B	0.000011	0.62929	D	0.000000	0.999938	0.51612	D	0.345	0.11182	N	1.03	0.40469	T	0.18	0.05035	N	0.378	0.49420	-1.0755	0.08246	T	0.051	0.21844	T	10	0.052227944	0.05225	T	0.008808	0.23245	T	0.118	0.32913	.	.	0.245660935333	0.24156	0.8350229382743952	0.83461	1.09219383268	0.77473	0.650475859642	0.60053	T	0.275755	0.64830	T	-0.316226	0.07211	T	-0.364053	0.37583	T	0.0535659979425459	0.06115	T	0.509849	0.16238	T	0.099374495	0.23451	0.15846443	0.37004	0.099374495	0.23451	0.15846443	0.37003	0.55	0.00203	T	.	.	0.137	0.30555	B	.;.;.	.;.;.	3.031185	0.40599	21.2	0.9675835927569777	0.30990	0.95770	0.66080	D	ALL	0.549763	0.56251	D	-0.26297512599319	0.30588	1.707021	-0.0523371076160095	0.37390	2.188525	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.44	4.44	0.53164	3.094000	0.49919	.	.	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.094:0.0:0.906:0.0	10.110	0.41728	671	0.60868	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1353.98	35	chr19	12737528	.	G	C	1353.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.378e+00;DP=861;ExcessHet=0.0000;FS=1.316;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.34;ReadPosRankSum=2.03;SOR=0.640	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1220	20	0	1	0
chr19	12767435	12767435	C	G	exonic	HOOK2	.	nonsynonymous SNV	HOOK2:NM_001100176:exon14:c.G1333C:p.V445L	.	.	415	1103	4	0	0	4	0.00180995	.	.	716179	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.66	T	0.001	B	0.005	B	0.062	N	1.000	N	-0.14	N	2.33	T	-0.986	T	0.007	T	0.055	-0.876	0.489	1.02	0.276	0.410	1.214	0.032	.	.	0.00778754	0.0056	0.0006	0.0288	0.0257	0.0105	0.0005	0.0045	0.0005	0.0050581	782	154602	rs35979347	0.0022	0.0022	0.0024	0.0020	0.0270	0.0021	0.0021	0.0256	0.0251	0.0003	0.0261	3.826e-05	0.0270	0.0103	0.0009	0.0001	0.0027	0.0008	0.0041	0.0041	0.0034	0.0048	0.0296	0.0038	0.0037	0.0258	0.0243	0.0004	0	0.0201	0	0.0296	0.0098	0	0.0003	0.0038	0.0031	0.65	0.04848	T	0.719	0.05363	T	0.001	0.07471	B	0.005	0.11217	B	0.062087	0.22122	N	0.458585	0.999997	0.08975	N	-0.11	0.04642	N	2.33	0.16492	T	-0.51	0.15986	N	0.064	0.03613	-0.9859	0.33615	T	0.007	0.02399	T	10	0.0027045012	0.00042	T	.	.	.	0.032	0.07718	0.557	0.67547	0.154104182512	0.14974	0.12179770774521262	0.12106	0.249693643877	0.27551	0.395673513412	0.24466	T	0.003783	0.03191	T	-0.708593	0.00032	T	-0.769672	0.02779	T	0.000122253535686745	0.00001	T	0.714229	0.32652	T	0.019762017	0.00514	0.025860013	0.00648	0.019762017	0.00513	0.025860013	0.00647	-3.544	0.17582	T	.	.	0.083	0.10739	B	.;.	.;.	1.091560	0.14752	11.30	0.35815525165187739	0.02269	0.16554	0.19443	N	AEFBCI	0.093261	0.18872	N	-1.20250760882087	0.04963	0.2251789	-1.12991582333129	0.07134	0.3458597	0.717697511676211	0.22894	0.718356	0.82227	0	0.633656	0.55848	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.51	1.02	0.19102	0.535000	0.22822	.	.	-0.799000	0.03183	0.251000	0.24859	0.950000	0.28999	0.021000	0.11733	0.1368:0.4043:0.1853:0.2736	1.214	0.01794	624	0.65661	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	497.98	34	chr19	12767435	.	C	G	497.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.029;DP=757;ExcessHet=0.0000;FS=2.350;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.22;ReadPosRankSum=0.141;SOR=0.399	GT:AD:DP:GQ:PL	0/1:32,22:54:99:512,0,808	20	0	1	0
chr19	12825879	12825879	C	T	exonic	RTBDN	.	nonsynonymous SNV	RTBDN:NM_001080997:exon6:c.G517A:p.V173M	.	.	423	1064	35	0	0	35	0.0161812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.984	D	0.326	N	1.000	N	2.14	M	-1.23	T	-0.527	T	0.449	T	0.163	3.205	16.73	1.89	0.404	0.110	5.851	0.333	.	0.0062	0.00379393	0.0059	0.0014	0.0060	0.0001	0.0031	0.0086	0.0098	0.0019	0.0056079	867	154602	rs148952767	0.0055	0.0055	0.0054	0.0055	0.0194	0.0054	0.0053	0.0165	0.0154	0.0011	0.0065	0.0414	0	0.0032	0.0194	0.0051	0.0080	0.0018	0.0052	0.0052	0.0055	0.0050	0.0081	0.0049	0.0048	0.0069	0.0065	0.0014	0.0033	0.0081	0.0372	0.0002	0.0014	0.0204	0.0064	0.0080	0.0021	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.984	0.76113	D	0.326316	0.14188	N	0.581337	1	0.18612	N	2.3	0.65703	M	-1.23	0.78860	T	-2.23	0.50012	N	0.142	0.19728	-0.5274	0.67639	T	0.449	0.78378	T	10	0.008632958	0.00196	T	.	.	.	0.333	0.65522	.	.	0.679993856582	0.67727	0.6243524136616043	0.62368	0.959251436941	0.72940	0.519055008888	0.41493	T	0.110779	0.45160	T	-0.395984	0.02460	T	-0.338552	0.40509	T	0.018487128007871	0.00564	T	0.833717	0.50261	T	0.13471617	0.31290	0.15347806	0.36063	0.13471617	0.31290	0.15347806	0.36062	-5.047	0.37346	T	.	.	0.269	0.55285	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.305741	0.29507	18.15	0.99645482826696152	0.76943	0.05403	0.11271	N	ALL	0.110435	0.21899	N	-0.147440916189132	0.35344	2.028895	-0.396753268390047	0.25093	1.377961	0.999999999977259	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.52208	0.10781	0	0.636	0.56748	0	.	.	4.36	1.89	0.24700	0.114000	0.15353	.	.	0.549000	0.26987	0.043000	0.21118	0.008000	0.19753	0.176000	0.21171	0.0:0.7037:0.0:0.2963	5.851	0.17945	495	0.76383	Folate receptor-like;.;.;Folate receptor-like;Folate receptor-like;Folate receptor-like;Folate receptor-like;Folate receptor-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1206.98	40	chr19	12825879	.	C	T	1206.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.067;DP=832;ExcessHet=0.0000;FS=9.622;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=-9.240e-01;SOR=0.854	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr19	12881105	12881105	G	C	exonic	DNASE2	.	nonsynonymous SNV	DNASE2:NM_001375:exon2:c.C134G:p.A45G,	.	.	409	1105	8	0	0	8	0.00360685	.	.	1158405	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.38	T	0.653	P	0.226	B	0.496	N	1.000	N	0.96	L	2.52	T	-1.001	T	0.015	T	0.141	1.212	9.920	-1.36	-0.061	-0.053	3.613	0.017	0.0127536983497	0.0060	0.00199681	0.0050	0.0019	0.0037	0	0.0003	0.0073	0.0034	0.0028	0.0052393	810	154602	rs112348773	0.0076	0.0076	0.0077	0.0075	0.0116	0.0075	0.0074	0.0094	0.0087	0.0012	0.0052	0.0062	2.519e-05	0.0010	0.0116	0.0089	0.0073	0.0024	0.0051	0.0051	0.0057	0.0046	0.0087	0.0048	0.0047	0.0081	0.0079	0.0015	0	0.0046	0.0052	0.0002	0.0005	0.0102	0.0087	0.0062	0.0033	0.372	0.11478	T	0.521	0.10714	T	0.026	0.19406	B	0.063	0.27082	B	0.495557	0.05061	N	1.366640	1	0.08975	N	0.35	0.11930	N	2.51	0.17596	T	-0.9	0.24244	N	0.129	0.12341	-1.0013	0.29545	T	0.015	0.06282	T	10	0.0043547153	0.00088	T	0.012754	0.31594	T	0.017	0.02790	.	.	0.148003135375	0.14442	0.2683441953285732	0.26747	0.560273300196	0.52559	0.304706543684	0.11106	T	0.07564	0.35226	T	-0.654668	0.00068	T	-0.70213	0.05711	T	0.00470155657053513	0.00050	T	0.464953	0.13651	T	0.03689833	0.04628	0.036251202	0.03036	0.03689833	0.04628	0.036251202	0.03036	-3.775	0.20432	T	.	.	0.090	0.15070	B	.;.	.;.	0.762654	0.11325	7.945	0.61141236624801887	0.06635	0.08445	0.14373	N	AEFDGBCIJ	0.088819	0.18006	N	-1.22303293139151	0.04668	0.2111439	-1.28691288597175	0.04607	0.2176825	0.999982893370361	0.51787	0.627647	0.40530	0	0.52208	0.09955	0	0.52208	0.10781	0	0.657601	0.63696	0	.	.	5.12	-1.36	0.08610	-0.046000	0.11937	.	.	-1.707000	0.00749	0.000000	0.06391	0.004000	0.18990	0.001000	0.02609	0.2546:0.0:0.3464:0.3989	3.613	0.07612	587	0.69154	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1491.98	37	chr19	12881105	.	G	C	1491.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.445;DP=839;ExcessHet=0.0000;FS=5.302;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.66;ReadPosRankSum=-1.803e+00;SOR=0.893	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1163	20	0	1	0
chr19	12930703	12930703	G	A	exonic	FARSA	.	nonsynonymous SNV	FARSA:NM_004461:exon2:c.C194T:p.A65V,	.	.	426	1087	9	0	0	9	0.00412277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.01	B	0.006	B	0.040	N	1.000	N	1.125	L	0.46	T	-0.895	T	0.194	T	0.291	1.978	12.57	5.51	2.598	1.366	18.179	0.082	0.020955006997	0.0002	0.000399361	0.0005	9.747e-05	8.661e-05	0	0	0.0003	0.0056	0.0021	0.0004334	67	154602	rs201642345	0.0003	0.0003	0.0003	0.0004	0.0023	0.0003	0.0003	0.0018	0.0017	2.987e-05	8.944e-05	0.0018	2.519e-05	1.928e-05	0.0023	0.0002	0.0005	0.0020	0.0003	0.0003	0.0003	0.0002	0.0010	0.0002	0.0002	0.0004	0.0003	4.81e-05	0	6.539e-05	0.0014	0	0	0	0.0004	0.0005	0.0010	0.136	0.26085	T	0.143	0.34359	T	0.01	0.15535	B	0.002	0.06944	B	0.039545	0.24158	N	0.450467	1	0.08975	N	0.955	0.23872	L	-0.11	0.64445	T	-1.45	0.38345	N	0.175	0.25745	-0.8955	0.48437	T	0.194	0.54797	T	10	0.012088835	0.00261	T	0.020955	0.43652	T	0.082	0.23913	.	.	0.756655250323	0.75444	0.25911981937470524	0.25825	0.386860189921	0.39976	0.281586050987	0.07714	T	0.028012	0.44393	T	-0.419198	0.01731	T	-0.38171	0.35523	T	0.0379564754746051	0.03324	T	0.758124	0.38892	T	0.12382867	0.29069	0.11492115	0.27742	0.12382867	0.29069	0.11492115	0.27742	-7.046	0.54368	T	.	.	0.098	0.20391	B	.;.;.;.	.;.;.;.	2.162986	0.27555	17.50	0.99634633784691795	0.76264	0.22384	0.21728	N	AEFDGBCI	0.085465	0.17325	N	-0.422838770681668	0.24670	1.333755	-0.33891322304696	0.26854	1.486053	0.999988222606924	0.51787	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.51	5.51	0.81769	1.391000	0.34083	.	.	-0.109000	0.15193	0.003000	0.16062	0.792000	0.26872	0.945000	0.48827	0.0:0.0:1.0:0.0	18.179	0.89702	568	0.70638	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	988.98	35	chr19	12930703	.	G	A	988.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.338;DP=831;ExcessHet=0.0000;FS=3.589;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.31;ReadPosRankSum=-7.230e-01;SOR=1.078	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1163	20	0	1	0
chr19	12973596	12973596	A	G	exonic	DAND5	.	nonsynonymous SNV	DAND5:NM_152654:exon2:c.A532G:p.M178V,	.	.	.	.	.	.	.	.	.	.	.	2350168	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.76	T	0.0	B	0.0	B	0.101	N	1.000	N	-0.24	N	1.58	T	-1.036	T	0.025	T	0.035	-0.980	0.290	-5.89	-0.562	-1.073	1.793	0.028	0.00383392875107	.	0.000199681	0.0002	0	0	0	0	0.0003	0	0.0002	0.0001488	23	154602	rs543804820	0.0001	0.0001	9.528e-05	0.0001	0.0017	0.0001	9.5e-05	0.0009	0.0007	0	0	0.0033	0	0	0.0017	3.507e-05	0.0002	0.0002	7.883e-05	7.874e-05	3.857e-05	0.0001	0.0002	4.496e-05	3.511e-05	4.88e-06	1.83e-06	0	0	0	0.0026	0	0	0	2.941e-05	0	0.0002	0.936	0.02217	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.101084	0.02548	N	2.173460	1	0.08975	N	0.545	0.13751	N	1.58	0.29085	T	-1.22	0.30964	N	0.035	0.01004	-1.0355	0.18700	T	0.025	0.10553	T	10	0.009526581	0.00215	T	0.003834	0.08961	T	0.028	0.06331	.	.	0.0716867268079	0.06686	0.592326385745459	0.59162	0.017427321851	0.01692	0.23682770133	0.02512	T	0.333485	0.70333	T	-0.614394	0.00119	T	-0.824119	0.01371	T	0.0129023257020241	0.00222	T	0.19948	0.02241	T	0.0375119	0.04824	0.043326776	0.05366	0.0375119	0.04824	0.043326776	0.05366	-1.626	0.02043	T	.	.	0.059	0.00767	B	.	.	-1.408595	0.00354	0.006	0.30584984702707724	0.01680	0.00132	0.00814	N	AEFDBI	0.023460	0.01311	N	-1.84416078551495	0.00446	0.0191753	-1.8415141970531	0.00635	0.02822623	0.192066127671565	0.18012	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.55	-5.89	0.02093	-1.043000	0.03646	.	.	-1.367000	0.01175	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4625:0.1159:0.2624:0.1591	1.793	0.02870	490	0.76723	DAN	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1369.98	99	chr19	12973596	.	A	G	1369.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.701;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=1.23;SOR=0.632	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1348	20	0	1	0
chr19	13207871	13207876	CTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6963del:p.Q2324_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,25,14,0,0,0,0:39:99:.:.:1588,551,497,1016,0,956,1581,563,1010,1581,1581,563,1010,1581,1581,1581,563,1010,1581,1581,1581,1581,563,1010,1581,1581,1581,1581	2	3	6	0
chr19	13207874	13207876	CTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6960del:p.Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,25,14,0,0,0,0:39:99:.:.:1588,551,497,1016,0,956,1581,563,1010,1581,1581,563,1010,1581,1581,1581,563,1010,1581,1581,1581,1581,563,1010,1581,1581,1581,1581	2	3	6	0
chr19	13207876	13207876	-	CTG	exonic	CACNA1A	.	nonframeshift insertion	CACNA1A:NM_001127222:exon47:c.6957_6958insCAG:p.Q2325_A2326insQ,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,25,14,0,0,0,0:39:99:.:.:1588,551,497,1016,0,956,1581,563,1010,1581,1581,563,1010,1581,1581,1581,563,1010,1581,1581,1581,1581,563,1010,1581,1581,1581,1581	2	3	6	0
chr19	13207868	13207876	CTGCTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6966del:p.Q2323_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,25,14,0,0,0,0:39:99:.:.:1588,551,497,1016,0,956,1581,563,1010,1581,1581,563,1010,1581,1581,1581,563,1010,1581,1581,1581,1581,563,1010,1581,1581,1581,1581	2	3	6	0
chr19	13207862	13207876	CTGCTGCTGCTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6972del:p.Q2321_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,25,14,0,0,0,0:39:99:.:.:1588,551,497,1016,0,956,1581,563,1010,1581,1581,563,1010,1581,1581,1581,563,1010,1581,1581,1581,1581,563,1010,1581,1581,1581,1581	2	3	6	0
chr19	13208815	13208815	G	A	exonic	CACNA1A	.	nonsynonymous SNV	CACNA1A:NM_001127221:exon46:c.C6724T:p.R2242W	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	37	1483	2	0	0	2	0.000673854	.	.	647724	CACNA1A-related_disorder|Developmental_and_epileptic_encephalopathy,_42|Episodic_ataxia_type_2|not_provided	.|MONDO:MONDO:0014917,MedGen:C4310716,OMIM:617106|MONDO:MONDO:0007163,MedGen:C1720416,OMIM:108500,Orphanet:97|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.972	D	0.658	U	1.000	N	1.39	L	-3.88	D	0.295	D	0.870	D	0.324	2.116	13.03	1.52	0.651	0.438	9.006	0.467	0.763836811524	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs760428308	7.878e-06	8.893e-06	7.086e-06	8.688e-06	2.704e-05	4.23e-06	3.09e-06	3.9e-06	2.82e-06	0	2.704e-05	0	0	0	0	8.278e-06	1.718e-05	0	6.582e-06	6.57e-06	0	1.347e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.022	0.48642	D	0.026	0.56192	D	.	.	.	.	.	.	0.657997	0.05962	U	1.312740	0.995167	0.23357	N	2.32	0.66415	M	-3.88	0.97394	D	-3.67	0.70191	D	0.353	0.39962	0.295	0.87479	D	0.870	0.95677	D	10	0.7006326	0.72421	D	0.763837	0.98127	D	0.467	0.76222	0.304	0.27325	0.887781409754	0.88668	0.28405105164845756	0.28318	0.825720942332	0.67392	0.912779211998	0.97727	D	0.066841	0.33711	T	0.121	0.66471	D	-0.0577053	0.66493	T	0.936755418777466	0.60600	D	0.954605	0.84807	D	0.091813214	0.21525	0.114023216	0.27522	0.091813214	0.21525	0.114023216	0.27521	-6.751	0.52989	T	0.2716427936174184	0.36535	0.237	0.49304	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.552681	0.49947	22.9	0.9947149547208668	0.66365	0.65035	0.32603	D	AEFDGBHCI	0.612890	0.60079	D	0.051676088637897	0.44219	2.700024	-0.0357304530319911	0.38114	2.240936	0.999999984823797	0.74766	0.700653	0.57754	0	0.218748	0.04544	0	0.717052	0.78885	0	0.554799	0.18163	0	.	.	3.92	1.52	0.22158	0.242000	0.17862	2.340000	0.32248	-0.423000	0.05224	0.586000	0.27634	1.000000	0.68203	0.403000	0.26849	0.0:0.0:0.4675:0.5325	9.006	0.35273	818	0.41518	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	107.98	45	chr19	13208815	.	G	A	107.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=854;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.20;ReadPosRankSum=2.15;SOR=0.892	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,104,1149	20	0	1	0
chr19	13261453	13261453	C	G	exonic	CACNA1A	.	nonsynonymous SNV	CACNA1A:NM_001127221:exon26:c.G4250C:p.C1417S	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	3.195	M	-4.35	D	1.104	D	0.955	D	0.869	3.142	16.51	4.28	1.942	7.788	15.505	0.919	0.720049166767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	3.6	0.93737	H	-4.35	0.97292	D	-9.9	0.98740	D	0.88	0.93370	1.104	0.99792	D	0.955	0.98552	D	10	0.9412385	0.93449	D	0.720049	0.97734	D	0.919	0.97928	0.674	0.81200	0.941752061762	0.94114	0.997802321923104	0.99779	2.44890012304	0.97340	0.720135450363	0.70066	T	0.34092	0.72556	T	0.529847	0.95166	D	0.523312	0.95094	D	0.999120771884918	0.96259	D	0.955704	0.85148	D	0.8946401	0.90909	0.8295416	0.90155	0.8946401	0.90910	0.8295416	0.90156	-12.57	0.87516	D	0.7550199673618676	0.83701	1.000	0.99795	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.176184	0.86775	29.0	0.9877498318136364	0.46033	0.63432	0.32088	D	AEFGBHCI	0.974892	0.99586	D	0.786534102046003	0.85255	8.522144	0.671957541614113	0.80254	7.258447	1.0	0.98316	0.706298	0.61202	0	0.166054	0.03914	2	0.709663	0.75317	0	0.75052	0.99595	0	.	.	4.28	4.28	0.50183	7.876000	0.85623	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.622000	0.31948	0.0:1.0:0.0:0.0	15.505	0.75468	867	0.32089	Ion transport domain;Ion transport domain;Ion transport domain;.;.;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;.;Ion transport domain;Ion transport domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1071	259.27	33	chr19	13261453	.	C	G,T	259.27	.	AC=1,2;AF=0.036,0.071;AN=28;BaseQRankSum=-1.205e+00;DP=1059;ExcessHet=0.3300;FS=141.148;InbreedingCoeff=-0.1849;MLEAC=1,3;MLEAF=0.036,0.107;MQ=60.00;MQRankSum=0.00;QD=1.73;ReadPosRankSum=0.369;SOR=9.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,11,9:63:86:.:.:86,0,1370,104,699,787	11	0	1	7
chr19	13261453	13261453	C	T	exonic	CACNA1A	.	nonsynonymous SNV	CACNA1A:NM_001127221:exon26:c.G4250A:p.C1417Y	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	3.45	M	-4.36	D	1.103	D	0.959	D	0.882	2.999	16.00	4.28	1.942	7.788	15.505	0.900	0.662448640831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	3.945	0.96414	H	-4.36	0.97317	D	-10.89	0.99244	D	0.9	0.91736	1.103	0.99760	D	0.959	0.98667	D	10	0.92822963	0.92167	D	0.662449	0.97167	D	0.900	0.97210	0.597	0.72739	0.946521584196	0.94595	0.9989162058167032	0.99890	3.10580878237	0.99392	0.820091307163	0.85041	D	0.425318	0.77547	T	0.548974	0.95690	D	0.550787	0.95627	D	0.999760091304779	0.98882	D	0.970803	0.90930	D	0.9488749	0.96151	0.8905547	0.94306	0.9488749	0.96151	0.8905547	0.94306	-12.59	0.87605	D	0.7545057421757159	0.83651	1.000	0.99795	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.250013	0.88146	29.5	0.98413605309687413	0.41201	0.57634	0.30428	D	AEFGBHCI	0.971659	0.99367	D	0.815197305321873	0.87046	9.085217	0.690351591084019	0.81645	7.575577	1.0	0.98316	0.706298	0.61202	0	0.166054	0.03914	2	0.709663	0.75317	0	0.75052	0.99595	0	.	.	4.28	4.28	0.50183	7.876000	0.85623	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.622000	0.31948	0.0:1.0:0.0:0.0	15.505	0.75468	867	0.32089	Ion transport domain;Ion transport domain;Ion transport domain;.;.;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;.;Ion transport domain;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1071	259.27	33	chr19	13261453	.	C	G,T	259.27	.	AC=1,2;AF=0.036,0.071;AN=28;BaseQRankSum=-1.205e+00;DP=1059;ExcessHet=0.3300;FS=141.148;InbreedingCoeff=-0.1849;MLEAC=1,3;MLEAF=0.036,0.107;MQ=60.00;MQRankSum=0.00;QD=1.73;ReadPosRankSum=0.369;SOR=9.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,11,9:63:86:.:.:86,0,1370,104,699,787	11	0	1	7
chr19	13285154	13285156	CTT	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127221:exon21:c.3607_3609del:p.K1203del	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	0	1510	12	0	0	12	0.00395778	.	.	192734	Developmental_and_epileptic_encephalopathy,_42|Episodic_ataxia_type_2|Inborn_genetic_diseases|not_provided|Migraine,_familial_hemiplegic,_1|Spinocerebellar_ataxia_type_6|not_specified	MONDO:MONDO:0014917,MedGen:C4310716,OMIM:617106|MONDO:MONDO:0007163,MedGen:C1720416,OMIM:108500,Orphanet:97|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0020756,MedGen:C1832884,OMIM:141500,Orphanet:569|MONDO:MONDO:0008457,MedGen:C0752124,OMIM:183086,Orphanet:98758|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	.	0.0017	0	0.0008	0	0.0126	0.0013	0.0056	0.0012	0.0003074	8	26028	rs772989979	0.0011	0.0011	0.0011	0.0012	0.0019	0.0011	0.0011	0.0011	0.0010	8.961e-05	0.0012	0.0036	2.519e-05	0.0136	0.0019	0.0005	0.0014	0.0012	0.0020	0.0020	0.0014	0.0026	0.0016	0.0018	0.0018	0.0011	0.0009	4.814e-05	0	0.0016	0.0035	0	0.0177	0	0.0011	0.0024	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1142.94	35	chr19	13285153	.	CCTT	C	1142.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.092;DP=773;ExcessHet=0.0000;FS=0.924;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.81;ReadPosRankSum=1.61;SOR=0.730	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1134	20	0	1	0
chr19	13768642	13768642	G	A	exonic	MRI1	.	nonsynonymous SNV	MRI1:NM_001031727:exon4:c.G629A:p.R210Q	.	.	421	1098	3	0	0	3	0.00136426	.	.	181458	not_specified|Severe_cystic_degeneration_of_the_brain|Infantile_epilepsy	MedGen:CN169374|MedGen:CN228278|MedGen:CN228296	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	3.64	H	-3.39	D	1.038	D	0.920	D	0.755	4.513	24.3	4.76	2.757	8.790	14.176	0.959	0.433932623697	7.7e-05	0.000399361	0.0001	0	0.0002	0.0001	0	0.0001	0.0012	0.0004	0.0001229	19	154602	rs141094096	0.0001	0.0001	8.578e-05	0.0001	0.0019	8.715e-05	8.202e-05	0.0011	0.0008	2.987e-05	0.0002	0	0	0	0.0019	6.655e-05	0.0002	0.0005	9.191e-05	9.186e-05	6.424e-05	0.0001	0.0006	5.523e-05	4.361e-05	0.0002	8.992e-05	0	0	0.0001	0	0.0002	0	0	0.0001	0.0005	0.0006	0.002	0.78490	D	0.007	0.72224	D	1.0	0.90584	D	0.997	0.88582	D	0.000000	0.84330	D	0.000000	0.999918	0.58761	D	3.715	0.94732	H	-3.39	0.94210	D	-3.93	0.73788	D	0.642	0.80572	1.038	0.97869	D	0.920	0.97355	D	10	0.79415596	0.78920	D	0.433933	0.94035	D	0.959	0.99346	.	.	0.964281851281	0.96389	0.9076569926159438	0.90738	0.933116055964	0.71916	0.567619025707	0.48341	T	0.667682	0.90100	D	0.156249	0.69851	D	0.30282	0.88326	D	0.776924312114716	0.44859	D	0.991734	0.97507	D	0.95688087	0.96965	0.85620284	0.91921	0.9403019	0.95278	0.8663411	0.92614	-8.507	0.83667	D	0.7588981264196322	0.84077	0.725	0.74013	P	.;.	.;.	5.950785	0.94160	33	0.99950865262535638	0.99944	0.97901	0.77985	D	AEFDBI	0.908559	0.86402	D	0.939309569708445	0.93549	12.113	0.833929403664002	0.92042	11.20547	0.999999962930959	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.83	4.76	0.60189	8.939000	0.92475	11.688000	0.94314	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:0.8504:0.1496	14.176	0.65077	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	4760.08	37	chr19	13768642	.	G	A	4760.08	.	AC=2;AF=0.048;AN=42;DP=1000;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.32;SOR=0.719	GT:AD:DP:GQ:PL	0/0:116,0:116:99:0,120,1800	20	1	0	0
chr19	13795709	13795730	GCCGGGGCCGGGGCCGCGCGTG	-	exonic	ZSWIM4	.	frameshift deletion	ZSWIM4:NM_001367834:exon1:c.61_82del:p.A25Pfs*12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1370459779	1.257e-05	1.369e-05	9.17e-06	1.637e-05	1.358e-05	7.01e-06	5.4e-06	7.24e-06	5.72e-06	0	0	0	0	0	0	1.358e-05	2.428e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	490.94	16	chr19	13795708	.	TGCCGGGGCCGGGGCCGCGCGTG	T	490.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.825;DP=447;ExcessHet=0.0000;FS=1.882;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.18;ReadPosRankSum=-3.720e-01;SOR=1.460	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,1037	20	0	1	0
chr19	13804938	13804938	G	T	exonic	ZSWIM4	.	nonsynonymous SNV	ZSWIM4:NM_001367834:exon3:c.G502T:p.V168L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.988	D	0.855	P	0.000	D	1.000	D	3.08	M	0.37	T	-0.249	T	0.342	T	0.671	5.524	35	3.74	0.981	7.688	11.933	0.299	0.0463001204723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.005	0.72224	D	0.988	0.62325	D	0.855	0.60933	P	0.000095	0.51296	D	0.000000	0.97169	0.38890	D	2.66	0.77858	M	0.37	0.57729	T	-2.25	0.50337	N	0.774	0.77132	-0.2488	0.76392	T	0.342	0.70778	T	10	0.7546444	0.75891	D	0.046	0.62391	D	0.299	0.61955	0.321	0.30064	0.627732777632	0.62470	0.7777995666145286	0.77729	0.870047324024	0.69367	0.855787158012	0.90484	D	0.195438	0.55152	T	0.120661	0.66437	D	-0.0644548	0.66019	T	0.950073480606079	0.63255	D	0.995575	0.98446	D	0.25217912	0.48231	0.39918843	0.64488	0.25217912	0.48231	0.39918843	0.64488	-13.506	0.91339	D	.	.	0.927	0.84779	P	.	.	4.713552	0.75742	26.4	0.99670223588111606	0.78523	0.91719	0.54118	D	ALL	0.861806	0.77995	D	0.696124732373011	0.79377	7.065099	0.610946353012804	0.75734	6.36311	0.999999999884143	0.74766	0.77792	0.99625	0	0.643519	0.57511	0	0.854111	0.99894	0	0.714379	0.83352	0	.	.	4.81	3.74	0.42108	7.813000	0.84661	9.631000	0.81127	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.0:0.0:0.8246:0.1753	11.933	0.52142	958	0.09170	Zinc finger, SWIM-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2514.98	39	chr19	13804938	.	G	T	2514.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.33;DP=922;ExcessHet=0.0000;FS=2.578;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=-6.750e-01;SOR=0.919	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1352	20	0	1	0
chr19	13808947	13808947	A	G	exonic	ZSWIM4	.	nonsynonymous SNV	ZSWIM4:NM_001367834:exon4:c.A824G:p.Y275C	.	.	425	1079	18	0	0	18	0.00827206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.923	D	0.000	U	1.000	D	2.595	M	0.99	T	-0.554	T	0.243	T	0.699	2.763	15.20	4.07	1.492	6.916	10.972	0.346	0.0855252126319	0.0005	0.000998403	0.0022	0.0003	0.0006	0	0	0.0012	0	0.0095	0.0014748	228	154602	rs149065965	0.0011	0.0011	0.0008	0.0014	0.0109	0.0011	0.0011	0.0088	0.0084	0.0001	0.0003	0.0046	0	1.907e-05	0.0109	0.0005	0.0015	0.0092	0.0007	0.0007	0.0005	0.0008	0.0077	0.0006	0.0005	0.0057	0.0050	9.623e-05	0	0.0003	0.0037	0	0	0.0034	0.0006	0.0009	0.0077	0.042	0.41637	D	0.086	0.41074	T	0.999	0.77913	D	0.923	0.65830	D	0.000186	0.48115	U	0.000000	0.928804	0.81001	D	2.615	0.76484	M	0.99	0.48142	T	-5.7	0.87380	D	0.736	0.73645	-0.5540	0.66634	T	0.243	0.61119	T	10	0.010751724	0.00238	T	0.085525	0.74552	D	0.346	0.66769	.	.	0.480123561213	0.47641	0.9555541239800174	0.95540	1.65155041061	0.89543	0.733240246773	0.71979	T	0.217443	0.57989	T	-0.253904	0.13625	T	-0.130527	0.60926	T	0.0874655497672056	0.10914	T	0.820118	0.47860	T	0.32502732	0.55061	0.303005	0.56331	0.32502732	0.55061	0.303005	0.56330	-4.887	0.35589	T	.	.	0.159	0.35183	B	.;.	.;.	3.886318	0.56514	23.7	0.99681960893055865	0.79307	0.95997	0.67068	D	AEFDBI	0.752354	0.69288	D	0.505389456042273	0.67409	5.077654	0.399347323838353	0.61523	4.353769	0.959736062043445	0.28445	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.491896	0.07777	0	.	.	4.07	4.07	0.46726	6.898000	0.75496	5.091000	0.47354	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	1.0:0.0:0.0:0.0	10.972	0.46660	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	982.98	40	chr19	13808947	.	A	G	982.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.21;DP=805;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=1.11;SOR=0.732	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1219	20	0	1	0
chr19	13889693	13889693	G	A	exonic	C19orf57	.	nonsynonymous SNV	C19orf57:NM_001345846:exon5:c.C809T:p.T270I	.	.	401	1117	4	0	0	4	0.00178731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.184	B	0.069	B	0.057	N	1.000	N	0.55	N	0.82	T	-1.031	T	0.077	T	0.098	1.211	9.915	-3.42	-0.556	-4.641	4.532	0.026	.	.	0.00159744	0.0017	0.0002	8.712e-05	0	0	0	0.0012	0.0123	0.0013519	209	154602	rs577821812	0.0007	0.0007	0.0004	0.0011	0.0113	0.0007	0.0007	0.0108	0.0105	0.0001	0	0	0	0	0.0002	1.261e-05	0.0007	0.0113	0.0004	0.0004	0.0001	0.0006	0.0106	0.0003	0.0003	0.0082	0.0074	4.81e-05	0	0	0	0.0002	0	0	0	0	0.0106	0.083	0.33091	T	0.205	0.27145	T	0.184	0.29209	B	0.069	0.27757	B	0.057181	0.02095	N	2.343650	1	0.08975	N	1.1	0.28011	L	0.82	0.48142	T	-4.32	0.76655	D	0.051	0.05037	-1.0309	0.20163	T	0.077	0.30798	T	10	0.0029499829	0.00048	T	.	.	.	0.026	0.05648	0.193	0.10437	0.144782658237	0.14088	0.0659430942847921	0.06533	0.469413479543	0.46249	.	.	.	0.017206	0.14076	T	-0.641043	0.00082	T	-0.684196	0.06731	T	0.0147717187028761	0.00309	T	0.530047	0.17660	T	0.11144671	0.26337	0.087704785	0.20404	0.11144671	0.26337	0.087704785	0.20403	-4.908	0.36447	T	.	.	0.117	0.32005	B	.;.	.;.	-0.582891	0.01619	0.111	0.96223989291799461	0.29097	0.00839	0.03365	N	AEFBI	0.044241	0.07094	N	-1.21607881405562	0.04766	0.2158157	-1.32518886165039	0.04107	0.1930297	0.0180247186747771	0.13014	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	3.9	-3.42	0.04521	-3.647000	0.00453	-5.017000	0.01885	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.4663:0.165:0.3687:0.0	4.532	0.11413	917	0.20147	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3460.08	42	chr19	13889693	.	G	A	3460.08	.	AC=2;AF=0.048;AN=42;DP=916;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=36.15;SOR=1.609	GT:AD:DP:GQ:PL	0/0:81,0:81:99:0,120,1800	20	1	0	0
chr19	13918779	13918779	C	T	exonic	CC2D1A	.	nonsynonymous SNV	CC2D1A:NM_017721:exon9:c.C980T:p.S327L,	Mental retardation, autosomal recessive 3, Autosomal recessive	YES	3	1438	77	4	0	85	0.0287065	.	.	134073	CC2D1A-related_disorder|Inborn_genetic_diseases|Intellectual_disability,_autosomal_recessive_3|not_specified|not_provided	.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012037,MedGen:C1838023,OMIM:608443,Orphanet:88616|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.32	T	0.0	B	0.0	B	0.811	N	1.000	N	-0.35	N	1.21	T	-1.017	T	0.027	T	0.073	1.140	9.645	1.51	0.616	-0.599	6.921	0.052	.	0.0055	0.00539137	0.0094	0.0013	0.0074	0.0006	0.0015	0.0109	0.0116	0.0176	0.0089908	1390	154602	rs200121704	0.0088	0.0088	0.0084	0.0093	0.0180	0.0087	0.0086	0.0166	0.0163	0.0011	0.0074	0.0222	0.0001	0.0022	0.0180	0.0087	0.0091	0.0173	0.0069	0.0069	0.0067	0.0071	0.0139	0.0066	0.0064	0.0112	0.0102	0.0016	0.0175	0.0104	0.0196	0	0.0019	0.0204	0.0093	0.0085	0.0139	0.331	0.13088	T	0.625	0.07316	T	0.0	0.02946	B	0.0	0.01387	B	0.810813	0.09252	N	0.915333	1	0.08975	N	-1.39	0.00611	N	1.21	0.37230	T	-0.62	0.18248	N	0.072	0.04547	-1.0167	0.24787	T	0.027	0.11618	T	10	0.004861355	0.00104	T	.	.	.	0.052	0.14661	.	.	0.19670166235	0.19296	0.11669279904069872	0.11597	0.186972255489	0.21008	0.30116713047	0.10575	T	0.039772	0.25304	T	-0.653363	0.00069	T	-0.697661	0.05954	T	0.0041007881650206	0.00044	T	0.284172	0.05010	T	0.024865195	0.01361	0.022541357	0.00277	0.022227304	0.00870	0.023826808	0.00396	-4.605	0.32234	T	.	.	0.065	0.01810	B	.;.	.;.	0.654653	0.10228	6.968	0.85560260078759576	0.15969	0.03524	0.08710	N	AEFBI	0.041663	0.06363	N	-1.08191448286278	0.06976	0.3227283	-1.04708614803974	0.08767	0.4327007	7.93846808118909E-5	0.04552	0.718356	0.82227	0	0.577304	0.33150	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	5.05	1.51	0.22094	-0.177000	0.09789	-0.366000	0.09640	-0.180000	0.10397	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6775:0.0:0.3225	6.921	0.23569	934	0.15400	.;.	STX10	Artery_Tibial	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.04762	2868.08	37	chr19	13918779	.	C	T	2868.08	.	AC=2;AF=0.048;AN=42;DP=801;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.74;SOR=1.528	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1404	20	1	0	0
chr19	13919940	13919940	G	A	exonic	CC2D1A	.	nonsynonymous SNV	CC2D1A:NM_017721:exon12:c.G1345A:p.V449M,	Mental retardation, autosomal recessive 3, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	580498	Intellectual_disability,_autosomal_recessive_3|not_provided|not_specified|Inborn_genetic_diseases	MONDO:MONDO:0012037,MedGen:C1838023,OMIM:608443,Orphanet:88616|MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.683	P	0.179	B	0.739	N	1.000	N	0	N	1.54	T	-1.021	T	0.044	T	0.081	1.893	12.29	4.03	1.103	3.406	11.597	0.067	0.0111343445704	0.0005	0.000199681	0.0008	0.0001	8.985e-05	0	0.0010	0.0012	0	0.0001	0.0006856	106	154602	rs199644216	0.0005	0.0005	0.0005	0.0005	0.0017	0.0005	0.0005	0.0009	0.0007	2.993e-05	6.713e-05	0	0	0.0013	0.0017	0.0006	0.0005	6.961e-05	0.0004	0.0004	0.0004	0.0004	0.0007	0.0003	0.0003	0.0006	0.0005	4.815e-05	0	0	0	0	0.0008	0	0.0007	0.0019	0	0.104	0.29959	T	0.103	0.38305	T	0.343	0.35204	B	0.116	0.35808	B	0.738926	0.06416	N	1.131450	0.999896	0.19781	N	0	0.06538	N	1.54	0.30133	T	-0.08	0.08187	N	0.059	0.03841	-1.0213	0.23292	T	0.044	0.18948	T	10	0.009877533	0.00222	T	0.011134	0.28436	T	0.067	0.19503	.	.	0.305730143919	0.30178	0.1282765801001997	0.12752	0.304299532992	0.32738	0.408141553402	0.26199	T	0.019131	0.15298	T	-0.579987	0.00193	T	-0.656328	0.08516	T	0.0182691347164635	0.00546	T	0.485551	0.14815	T	0.027050778	0.01843	0.042404484	0.05041	0.027050778	0.01843	0.042404484	0.05041	-6.188	0.47858	T	.	.	0.084	0.09530	B	.;.	.;.	2.728632	0.35709	19.97	0.98650284856048787	0.44178	0.76028	0.37258	D	AEFBI	0.192978	0.32011	N	-0.300413655031599	0.29133	1.612904	-0.219264627227371	0.30844	1.740316	0.0133243625605947	0.12449	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.07	4.03	0.46115	3.129000	0.50194	3.897000	0.40328	0.658000	0.54486	0.633000	0.28025	0.774000	0.26724	0.966000	0.53164	0.09:0.0:0.91:0.0	11.597	0.50233	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	944.98	96	chr19	13919940	.	G	A	944.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=824;ExcessHet=0.0000;FS=1.746;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.84;ReadPosRankSum=-1.870e-01;SOR=0.929	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr19	13931801	13931801	G	A	exonic	PODNL1	.	nonsynonymous SNV	PODNL1:NM_001370095:exon10:c.C1682T:p.P561L,	.	.	744	772	5	1	0	7	0.00451322	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00279553	0.0086	0.0046	0	0	.	0.0131	0	0	0.0007374	114	154602	rs564006987	0.0065	0.0049	0.0064	0.0066	0.0088	0.0063	0.0063	0.0072	0.0068	0.0017	0.0088	0.0062	0	0.0015	0.0075	0.0070	0.0060	0.0019	0.0054	0.0054	0.0055	0.0054	0.0094	0.0051	0.0050	0.0082	0.0077	0.0023	0	0.0094	0.0092	0	0.0005	0.0476	0.0074	0.0080	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0041531324	0.00082	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.520648	0.16939	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05711	B	.	.	-0.106765	0.03603	0.706	0.78456511662004169	0.12309	0.06749	0.12771	N	AEFDGBI	0.119533	0.23325	N	.	.	.	.	.	.	0.0834365898943498	0.15928	0.421363	0.06395	0	0.514364	0.08380	0	0.536957	0.11973	0	0.562822	0.20929	0	.	.	4.87	0.186	0.14386	-0.788000	0.04719	-0.435000	0.09196	-0.858000	0.02657	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.3994:0.0:0.6006:0.0	6.845	0.23165	934	0.15400	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	834.98	37	chr19	13931801	.	G	A	834.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.26;DP=779;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=-1.337e+00;SOR=0.607	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1195	20	0	1	0
chr19	13959894	13959894	-	GGTGGGCCCAGGGCAGGCAG	exonic	DCAF15	.	frameshift insertion	DCAF15:NM_138353:exon9:c.1439_1440insGGTGGGCCCAGGGCAGGCAG:p.C482Gfs*59,	.	.	429	927	68	95	3	261	0.122159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0165	0.0004	0	0	3.429e-05	0	0	0.0002305	6	26028	.	0.0004	0.0004	0.0005	0.0003	0.0154	0.0004	0.0004	0.0142	0.0138	0.0154	0.0009	0	0	0	0.0008	1.26e-05	0.0008	9.603e-05	0.0040	0.0039	0.0038	0.0042	0.0139	0.0037	0.0036	0.0129	0.0125	0.0139	0	0.0015	0	0	0	0	1.518e-05	0.0035	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	8404.5	34	chr19	13959894	.	A	AGGTGGGCCCAGGGCGGGCAG,AGGTGGGCCCAGGGCAGGCAG	8404.5	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=0.536;DP=1417;ExcessHet=0.3152;FS=5.121;InbreedingCoeff=0.1923;MLEAC=15,1;MLEAF=0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=14.10;ReadPosRankSum=-9.810e-01;SOR=1.052	GT:AD:DP:GQ:PL	0/1:38,9,0:47:99:256,0,1576,378,1603,1981	9	4	7	0
chr19	13965683	13965683	C	T	exonic	RFX1	.	nonsynonymous SNV	RFX1:NM_002918:exon15:c.G2056A:p.V686M,	.	.	.	.	.	.	.	.	.	.	.	2756607	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.33	T	0.403	B	0.047	B	0.294	N	0.901	N	0.145	N	3.16	T	-0.953	T	0.010	T	0.259	1.944	12.46	0.501	0.881	0.264	7.204	0.035	0.0119528270205	.	0.000199681	1.664e-05	0	0	0	0	3.041e-05	0	0	2.59e-05	4	154602	rs201598179	1.847e-05	1.847e-05	2.451e-05	1.238e-05	0.0003	1.265e-05	1.084e-05	6.092e-05	2.521e-05	2.987e-05	0	0	0	0	0.0003	1.529e-05	8.279e-05	2.319e-05	3.283e-05	3.281e-05	2.57e-05	4.03e-05	0.0002	1.26e-05	7.98e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0	0.0002	0.087	0.32453	T	0.283	0.21478	T	0.403	0.34918	B	0.047	0.24832	B	0.293957	0.14717	N	0.644850	0.90139	0.27693	N	0.895	0.22405	L	3.16	0.07711	T	-0.5	0.15782	N	0.18	0.19459	-0.9525	0.40538	T	0.010	0.03492	T	10	0.13218251	0.25157	T	0.011953	0.30076	T	0.035	0.08770	.	.	0.082315109003	0.07666	0.2374690540756299	0.23661	0.915003175193	0.71199	0.59637337923	0.52392	T	0.157614	0.50029	T	-0.240693	0.15260	T	-0.56803	0.15631	T	0.190015081542556	0.19845	T	0.907009	0.67171	D	0.032572072	0.03308	0.048140135	0.07087	0.032572072	0.03307	0.048140135	0.07087	-7.727	0.59195	D	.	.	0.074	0.05145	B	.	.	3.015166	0.40338	21.1	0.98574285962681119	0.43154	0.72118	0.35312	D	AEFGBI	0.165001	0.29144	N	-0.44031533299563	0.24069	1.297073	-0.335796540637583	0.26951	1.492232	0.0168063464076846	0.12875	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.09	0.501	0.16130	0.230000	0.17632	2.148000	0.30891	0.599000	0.40250	0.991000	0.37257	0.976000	0.30059	0.996000	0.76049	0.2582:0.3187:0.4232:0.0	7.204	0.25073	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	993.98	37	chr19	13965683	.	C	T	993.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.443;DP=760;ExcessHet=0.0000;FS=2.056;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.29;ReadPosRankSum=0.844;SOR=0.968	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1254	20	0	1	0
chr19	13982195	13982195	C	T	exonic	RFX1	.	nonsynonymous SNV	RFX1:NM_002918:exon5:c.G547A:p.A183T,	.	.	325	1196	1	0	0	1	0.000417885	.	.	716200	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.103	N	1.000	N	-0.345	N	0.98	T	-1.028	T	0.016	T	0.021	0.225	5.216	-5.49	-0.778	-1.004	0.307	0.152	.	0.0038	0.00519169	0.0015	0.0154	0.0004	0.0002	0	3.313e-05	0	0	0.0012225	189	154602	rs61735284	0.0003	0.0003	0.0004	0.0003	0.0136	0.0003	0.0003	0.0124	0.0119	0.0136	0.0004	0	6.561e-05	2.478e-05	0.0006	1.259e-05	0.0007	3.741e-05	0.0038	0.0038	0.0036	0.0040	0.0133	0.0036	0.0034	0.0124	0.0120	0.0133	0	0.0015	0	0	0	0	2.941e-05	0.0028	0.0002	0.989	0.01971	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.102875	0.02564	N	2.018390	1	0.08975	N	-0.46	0.02758	N	0.98	0.42122	T	0.78	0.01921	N	0.1	0.08227	-1.0281	0.21070	T	0.016	0.06569	T	10	0.00184834	0.00025	T	.	.	.	0.152	0.39956	.	.	0.082315109003	0.07666	0.1601415970814	0.15935	0.162063213797	0.18279	0.324697375298	0.14132	T	0.049117	0.28214	T	-0.72442	0.00026	T	-0.801032	0.01877	T	0.00404610441647966	0.00043	T	0.60024	0.22396	T	0.031622272	0.03034	0.04245484	0.05059	0.031622272	0.03033	0.04245484	0.05058	-4.33	0.28596	T	.	.	0.059	0.00730	B	.	.	-0.546496	0.01724	0.127	0.53929438103646432	0.05036	0.00346	0.01789	N	AEFDBI	0.016709	0.00393	N	-1.3302800050773	0.03334	0.1487433	-1.29695900427581	0.04472	0.2110059	0.998491070810358	0.37071	0.695654	0.57023	0	0.844039	0.99811	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.18	-5.49	0.02381	-1.003000	0.03792	-3.070000	0.03088	-0.171000	0.11205	0.043000	0.21118	0.000000	0.08366	0.971000	0.54645	0.3245:0.1732:0.2766:0.2256	0.307	0.00263	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1230.98	34	chr19	13982195	.	C	T	1230.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=801;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.20;ReadPosRankSum=-1.441e+00;SOR=0.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1303	20	0	1	0
chr19	14052198	14052198	G	A	exonic	IL27RA	.	nonsynonymous SNV	IL27RA:NM_004843:exon14:c.G1819A:p.A607T,	.	.	.	.	.	.	.	.	.	.	.	2377426	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.49	T	0.023	B	0.002	B	0.537	N	1.000	N	0.55	N	1.72	T	-1.003	T	0.033	T	0.047	0.180	4.969	-2.98	-0.600	-0.863	6.136	0.007	0.00430543445761	.	0.000199681	0.0002	0	0	0	0	5.757e-05	0	0.0015	0.0001358	21	154602	rs376141649	7.762e-05	7.798e-05	6.012e-05	9.531e-05	0.0008	6.559e-05	6.161e-05	0.0006	0.0006	2.994e-05	0	0	5.04e-05	3.768e-05	0	3.335e-05	8.321e-05	0.0008	4.598e-05	4.593e-05	2.571e-05	6.716e-05	0.0006	2.108e-05	1.526e-05	0.0002	8.992e-05	0	0	0	0	0.0002	0	0	4.413e-05	0	0.0006	0.306	0.14207	T	0.566	0.08930	T	0.023	0.18885	B	0.002	0.06944	B	0.536965	0.05291	N	1.299180	1	0.08975	N	0.205	0.09354	N	1.72	0.26588	T	0.37	0.03639	N	0.013	0.00142	-1.0033	0.28963	T	0.033	0.14290	T	10	0.013755888	0.00291	T	0.004305	0.10435	T	0.007	0.00512	0.196	0.10839	0.0551355673512	0.04727	0.1800121394423001	0.17920	0.161341295611	0.18212	0.257508486509	0.04599	T	0.061031	0.31545	T	-0.659735	0.00063	T	-0.787917	0.02222	T	0.0169078055027455	0.00442	T	0.555444	0.19245	T	0.027814988	0.02027	0.0461898	0.06381	0.027814988	0.02027	0.0461898	0.06380	-3.767	0.20312	T	.	.	0.070	0.03515	B	.	.	-0.680001	0.01368	0.078	0.61101416324303981	0.06625	0.01314	0.04549	N	AEFDBI	0.028678	0.02570	N	-1.23558662346708	0.04494	0.2029085	-1.27965899973825	0.04706	0.2226083	2.89346757977113E-4	0.06355	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.604944	0.38103	0	.	.	5.28	-2.98	0.05179	-1.282000	0.02907	-1.415000	0.05493	-0.637000	0.04462	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.151:0.0:0.5276:0.3214	6.136	0.19453	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	826.98	37	chr19	14052198	.	G	A	826.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.853;DP=768;ExcessHet=0.0000;FS=2.322;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.31;ReadPosRankSum=0.311;SOR=0.538	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1246	20	0	1	0
chr19	14053615	14053615	G	A	exonic	PALM3	.	nonsynonymous SNV	PALM3:NM_001367327:exon5:c.C1859T:p.A620V	.	.	418	1099	4	1	0	6	0.00272232	.	.	2397490	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.94	T	0.366	B	0.035	B	.	.	1.000	N	0.55	N	1.6	T	-1.010	T	0.028	T	0.112	0.566	7.060	-1.28	-0.059	-0.204	4.585	0.015	.	0.0004	0.000798722	0.0007	0	0	0	0	0.0007	0.0139	0.0024	0.0001035	16	154602	rs138317110	0.0002	0.0002	0.0002	0.0003	0.0023	0.0002	0.0002	0.0016	0.0015	0.0001	0	0	0	6.557e-05	0.0023	0.0002	0.0004	0.0019	0.0002	0.0002	0.0002	0.0002	0.0017	0.0001	0.0001	0.0008	0.0006	7.217e-05	0	0	0	0	9.416e-05	0	0.0002	0	0.0017	0.419	0.09866	T	0.69	0.05920	T	0.366	0.34016	B	0.035	0.22741	B	.	.	.	.	1	0.08975	N	0.72	0.18721	N	1.6	0.28604	T	-0.67	0.19297	N	0.136	0.13341	-1.0104	0.26791	T	0.028	0.12058	T	9	0.0077739954	0.00177	T	.	.	.	0.015	0.02232	.	.	0.0138822411134	0.00435	0.07233110535439027	0.07170	.	.	0.486860245466	0.37004	T	0.001625	0.01056	T	-0.628497	0.00098	T	-0.681427	0.06897	T	0.0101771386328012	0.00137	T	0.574643	0.20620	T	0.034411117	0.03855	0.04377785	0.05522	0.034411117	0.03855	0.04377785	0.05522	-5.367	0.40601	T	.	.	0.132	0.28406	B	.	.	0.267653	0.06454	2.929	0.95932829284428645	0.28219	0.05187	0.11008	N	AEFDBHCI	0.068732	0.13571	N	-1.28656180766566	0.03836	0.1720926	-1.29728785369666	0.04468	0.2107921	0.0370021665962185	0.14274	0.695654	0.57023	0	0.514364	0.08380	0	0.723109	0.80598	0	0.586402	0.36253	0	.	.	4.73	-1.28	0.08834	-0.343000	0.07838	-0.404000	0.09391	-0.811000	0.03066	0.000000	0.06391	0.000000	0.08366	0.877000	0.41881	0.444:0.0:0.407:0.1489	4.585	0.11673	824	0.40336	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1599.98	36	chr19	14053615	.	G	A	1599.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.374;DP=793;ExcessHet=0.0000;FS=2.573;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.38;ReadPosRankSum=1.44;SOR=0.772	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,109,1236	20	0	1	0
chr19	14053906	14053906	C	G	exonic	PALM3	.	nonsynonymous SNV	PALM3:NM_001367327:exon5:c.G1568C:p.G523A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.035	B	0.031	B	.	.	1.000	N	1.04	L	0.93	T	-0.996	T	0.055	T	0.086	1.558	11.16	-2.21	-0.247	-0.540	4.001	0.010	0.00482107082708	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.15e-07	8.62e-05	1.411e-06	0	9.272e-07	0	0	.	.	0	0	0	0	0	0	9.272e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	0.31987	T	0.582	0.08448	T	0.035	0.20614	B	0.031	0.21939	B	.	.	.	.	1	0.08975	N	1.32	0.33002	L	0.93	0.44065	T	-0.73	0.20576	N	0.05	0.02179	-0.9959	0.31055	T	0.055	0.23375	T	9	0.047597438	0.04099	T	0.004821	0.12066	T	0.010	0.01040	0.204	0.11936	0.0297737177859	0.01360	0.043480154686174236	0.04293	.	.	0.316369116306	0.12871	T	0.003635	0.03040	T	-0.314852	0.07328	T	-0.69004	0.06386	T	0.0587676949799061	0.06973	T	0.392661	0.09777	T	0.053652357	0.10184	0.042563137	0.05096	0.053652357	0.10184	0.042563137	0.05096	-3.165	0.12058	T	.	.	0.091	0.13080	B	.	.	-0.004163	0.04254	1.054	0.87933678530610904	0.17591	0.08655	0.14553	N	AEFDBCI	0.172582	0.29962	N	-1.18619449748543	0.05208	0.2368802	-1.24326432024207	0.05231	0.2487758	0.00121004456635823	0.08334	0.695654	0.57023	0	0.514364	0.08380	0	0.723109	0.80598	0	0.530356	0.10902	0	.	.	3.68	-2.21	0.06581	-0.553000	0.06104	-1.137000	0.06220	-0.234000	0.07639	0.000000	0.06391	0.000000	0.08366	0.052000	0.15357	0.0:0.4002:0.1834:0.4164	4.001	0.09070	824	0.40336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	156.11	95	chr19	14053906	.	C	G	156.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.766e+00;DP=1112;ExcessHet=0.1072;FS=103.146;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.58;ReadPosRankSum=0.968;SOR=7.341	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,109,1236	19	0	2	0
chr19	14053907	14053907	C	G	exonic	PALM3	.	nonsynonymous SNV	PALM3:NM_001367327:exon5:c.G1567C:p.G523R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.008	B	0.01	B	.	.	1.000	N	0.345	N	0.95	T	-1.008	T	0.053	T	0.128	1.029	9.204	2.05	0.372	0.192	6.843	0.013	0.0052078798388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.306	0.14207	T	0.557	0.09205	T	0.008	0.14655	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	0.77	0.19370	N	0.95	0.43279	T	-0.69	0.19720	N	0.059	0.03069	-1.0081	0.27510	T	0.053	0.22423	T	9	0.04972422	0.04603	T	0.005208	0.13279	T	0.013	0.01715	0.196	0.10839	0.139678290688	0.13603	0.027866872545468033	0.02736	.	.	0.337800443172	0.16108	T	0.001275	0.00758	T	-0.277433	0.10942	T	-0.63629	0.09943	T	0.0434918548633612	0.04328	T	0.461754	0.13398	T	0.07602174	0.17165	0.06639426	0.13595	0.07602174	0.17164	0.06639426	0.13595	-5.02	0.37056	T	.	.	0.138	0.30184	B	.	.	1.347247	0.17547	13.23	0.77371077808316469	0.11848	0.24576	0.22436	N	AEFDBCI	0.212789	0.33844	N	-1.05278905982485	0.07533	0.3502519	-1.02789764357686	0.09174	0.4549612	0.00144854144453499	0.08543	0.695654	0.57023	0	0.514364	0.08380	0	0.723109	0.80598	0	0.530356	0.10902	0	.	.	4.2	2.05	0.25860	0.412000	0.20852	0.452000	0.18532	0.549000	0.26987	0.003000	0.16062	0.000000	0.08366	0.102000	0.18378	0.0:0.779:0.0:0.221	6.843	0.23157	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1538	406.69	113	chr19	14053907	.	C	G	406.69	.	AC=4;AF=0.154;AN=26;BaseQRankSum=-3.914e+00;DP=2349;ExcessHet=0.6776;FS=123.470;InbreedingCoeff=-0.2360;MLEAC=6;MLEAF=0.231;MQ=60.00;MQRankSum=0.00;QD=0.77;ReadPosRankSum=1.35;SOR=10.386	GT:AD:DP:GQ:PL	./.:137,0:137:0:0,0,2946	9	0	4	8
chr19	14054360	14054360	C	A	exonic	PALM3	.	nonsynonymous SNV	PALM3:NM_001367327:exon5:c.G1114T:p.V372L	.	.	384	1132	6	0	0	6	0.00264317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.002	B	0.002	B	.	.	1.000	N	1.04	L	1.47	T	-1.007	T	0.039	T	0.092	1.497	10.95	-3.89	-0.601	-0.918	2.021	0.005	0.011933800318	0.0033	0.000599042	0.0052	0.0004	0	0	0.0006	0.0073	0	0.0059	0.0014424	223	154602	rs144226401	0.0038	0.0037	0.0037	0.0039	0.0053	0.0037	0.0037	0.0049	0.0047	0.0007	0.0008	0.0116	2.798e-05	0.0016	0.0021	0.0039	0.0035	0.0053	0.0025	0.0025	0.0027	0.0023	0.0040	0.0023	0.0022	0.0036	0.0035	0.0005	0	0.0004	0.0127	0	0.0016	0.0102	0.0040	0.0019	0.0033	0.224	0.18691	T	0.782	0.04302	T	0.002	0.09854	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	1.47	0.31987	T	-0.3	0.11913	N	0.047	0.01911	-1.0067	0.27943	T	0.039	0.16806	T	9	0.0069954395	0.00159	T	0.011934	0.30037	T	0.005	0.00259	0.279	0.23323	0.0138822411134	0.00435	0.017054241873843388	0.01660	.	.	0.260060727596	0.04897	T	0.003566	0.02970	T	-0.650173	0.00072	T	-0.705063	0.05554	T	0.000726427621433598	0.00007	T	0.370463	0.08742	T	0.056113504	0.10997	0.036067363	0.02980	0.056113504	0.10997	0.036067363	0.02980	-5.083	0.37727	T	.	.	0.149	0.32922	B	.	.	-0.194749	0.03116	0.497	0.86575495546673287	0.16628	0.06423	0.12427	N	AEFBI	0.153171	0.27798	N	-1.15127304052652	0.05759	0.2633808	-1.24393473734267	0.05222	0.248273	4.9271765366373E-4	0.07150	0.695654	0.57023	0	0.514364	0.08380	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.22	-3.89	0.03916	-1.394000	0.02624	-3.831000	0.02508	-0.236000	0.07595	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.1407:0.3968:0.2761:0.1864	2.021	0.03295	824	0.40336	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2376.98	47	chr19	14054360	.	C	A	2376.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=1593;ExcessHet=0.0000;FS=4.133;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=-1.373e+00;SOR=0.572	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1244	20	0	1	0
chr19	14054465	14054465	C	T	exonic	PALM3	.	nonsynonymous SNV	PALM3:NM_001367327:exon5:c.G1009A:p.E337K	.	.	.	.	.	.	.	.	.	.	.	3367793	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.645	P	0.041	B	0.943	N	1.000	N	1.525	L	1.33	T	-1.032	T	0.057	T	0.243	2.806	15.35	0.902	0.482	0.619	5.365	0.040	0.0121582618621	.	.	.	.	.	.	.	.	.	.	.	.	.	rs934749585	2.858e-06	4.789e-06	1.41e-06	4.347e-06	2.801e-05	6.7e-07	4.5e-07	3.1e-07	1.2e-07	0	2.801e-05	0	0	0	0	1.854e-06	0	1.262e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.31532	T	0.032	0.53426	D	0.645	0.40526	P	0.041	0.23986	B	0.942550	0.08343	N	0.966446	1	0.08975	N	1.745	0.45235	L	1.33	0.35031	T	-0.78	0.21644	N	0.183	0.19861	-1.0323	0.19713	T	0.057	0.24130	T	10	0.08537054	0.14406	T	0.012158	0.30482	T	0.040	0.10527	0.34	0.33141	0.0138822411134	0.00435	0.08450603561029768	0.08384	.	.	0.336742579937	0.15950	T	0.004219	0.03630	T	-0.267972	0.11983	T	-0.500155	0.22331	T	0.201556980609894	0.20501	T	0.450355	0.12714	T	0.10036677	0.23698	0.06594599	0.13438	0.10036677	0.23698	0.06594599	0.13437	-5.821	0.44757	T	.	.	0.075	0.05404	B	.	.	2.503253	0.32318	19.01	0.99587417795279665	0.73395	0.09635	0.15347	N	AEFDBI	0.122055	0.23702	N	-0.643370712800649	0.17654	0.9102478	-0.76548689379133	0.15343	0.8064359	9.1932757469083E-4	0.08000	0.695654	0.57023	0	0.514364	0.08380	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.35	0.902	0.18422	0.975000	0.29046	0.011000	0.13441	0.549000	0.26987	0.012000	0.18695	0.000000	0.08366	0.009000	0.08673	0.0:0.5164:0.0:0.4836	5.365	0.15411	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2455.98	47	chr19	14054465	.	C	T	2455.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.808e+00;DP=1383;ExcessHet=0.0000;FS=0.620;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.37;ReadPosRankSum=0.160;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,105,1244	20	0	1	0
chr19	14054594	14054594	C	G	exonic	PALM3	.	nonsynonymous SNV	PALM3:NM_001367327:exon5:c.G880C:p.E294Q	.	.	377	1138	7	0	0	7	0.00306614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.998	D	0.917	D	0.000	D	1.000	N	1.65	L	0.61	T	-0.961	T	0.182	T	0.475	3.278	17.00	2.78	0.496	3.190	7.079	0.201	0.0536577490514	0.0026	0.000599042	0.0047	0	0	0	0	0.0063	0	0.0060	0.0013066	202	154602	rs199511171	0.0034	0.0032	0.0033	0.0035	0.0056	0.0033	0.0033	0.0051	0.0050	0.0007	0.0007	0.0092	2.798e-05	0.0011	0.0023	0.0035	0.0031	0.0056	0.0022	0.0022	0.0024	0.0020	0.0037	0.0020	0.0019	0.0031	0.0030	0.0005	0	0.0004	0.0095	0	0.0009	0.0102	0.0035	0.0014	0.0037	0.0	0.91255	D	0.011	0.64786	D	0.998	0.73220	D	0.917	0.65306	D	0.000005	0.62929	D	0.000000	0.999678	0.20721	N	2.39	0.68882	M	0.61	0.53516	T	-1.1	0.28497	N	0.418	0.45803	-0.9613	0.38936	T	0.182	0.53011	T	10	0.007216245	0.00164	T	0.053658	0.65554	D	0.201	0.48592	.	.	0.110078149338	0.10416	0.1866732163542712	0.18585	.	.	0.600860118866	0.53025	T	0.018438	0.14866	T	-0.36797	0.03698	T	-0.299421	0.44785	T	0.0324353875312854	0.02377	T	0.787921	0.42712	T	0.51312715	0.67862	0.27808836	0.53766	0.51312715	0.67863	0.27808836	0.53765	-6.644	0.51388	T	.	.	0.413	0.60270	A	.	.	4.219136	0.63804	24.6	0.99691951931259748	0.79977	0.92582	0.56051	D	AEFDBI	0.535296	0.55398	D	0.280278859310989	0.55148	3.679251	0.216521193391981	0.50764	3.265031	0.00214477393774695	0.09188	0.695654	0.57023	0	0.514364	0.08380	0	0.723109	0.80598	0	0.530356	0.10902	0	.	.	4.92	2.78	0.31702	-0.011000	0.12659	5.909000	0.50995	0.469000	0.21855	0.013000	0.18845	1.000000	0.68203	0.944000	0.48669	0.0:0.7163:0.0:0.2837	7.079	0.24400	824	0.40336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1239.98	47	chr19	14054594	.	C	G	1239.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.71;DP=900;ExcessHet=0.0000;FS=2.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=-1.055e+00;SOR=0.422	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1244	20	0	1	0
chr19	14089295	14089300	TCTTCA	-	exonic	SAMD1	.	nonframeshift deletion	SAMD1:NM_138352:exon3:c.699_704del:p.D233_E234del,	.	.	413	1105	2	0	2	4	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0103	.	0.0056	0.0041	0.0064	0.0074	0.0009	0.0034	0	0.0093	0.0003458	9	26028	rs374448790	0.0052	0.0051	0.0052	0.0053	0.0079	0.0051	0.0051	0.0074	0.0072	0.0028	0.0032	0.0003	0.0047	0.0008	0.0007	0.0056	0.0036	0.0079	0.0044	0.0044	0.0041	0.0048	0.0116	0.0041	0.0040	0.0102	0.0096	0.0026	0	0.0116	0	0.0054	0.0006	0	0.0047	0.0014	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2563.05	33	chr19	14089294	.	TTCTTCA	T	2563.05	.	AC=2;AF=0.048;AN=42;DP=795;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.05;SOR=1.773	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	1	0	0
chr19	14089297	14089297	T	0	exonic	SAMD1	.	.	.	.	.	421	931	119	12	39	182	0.0713217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1349.48	33	chr19	14089297	.	T	C,A,*	1349.48	.	AC=1,1,2;AF=0.024,0.024,0.048;AN=42;BaseQRankSum=-1.173e+00;DP=850;ExcessHet=0.0082;FS=7.035;InbreedingCoeff=0.4474;MLEAC=1,1,2;MLEAF=0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=6.96;ReadPosRankSum=1.09;SOR=0.361	GT:AD:DP:GQ:PL	0/0:35,0,0,0:35:99:0,99,1485,99,1485,1485,99,1485,1485,1485	18	0	1	0
chr19	14151447	14151447	A	G	exonic	ADGRL1	.	nonsynonymous SNV	ADGRL1:NM_014921:exon23:c.T3836C:p.I1279T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.25	M	-1.62	D	0.457	D	0.680	D	0.711	2.959	15.86	4.48	1.661	8.874	11.741	0.837	0.481499289193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999987	0.54805	D	.	.	.	-1.62	0.82347	D	-3.8	0.71762	D	0.661	0.74280	0.457	0.89936	D	0.680	0.88933	D	10	0.8749888	0.86784	D	0.481499	0.94849	D	0.837	0.94877	0.732	0.86547	0.361733483669	0.35779	0.808052188254558	0.80760	1.25605872944	0.81899	0.955081939697	0.99846	D	0.57508	0.85994	D	0.255078	0.79073	D	0.128625	0.78802	D	0.99748033285141	0.91668	D	0.995275	0.98387	D	0.74396384	0.80520	0.5325961	0.72992	0.74396384	0.80521	0.5325961	0.72993	-12.808	0.88556	D	.	.	0.999	0.98907	P	.;.	.;.	4.190881	0.63158	24.5	0.99741405065226962	0.83555	0.99649	0.98332	D	AEFDBI	0.910691	0.86894	D	0.631570355920296	0.75182	6.260801	0.555554583534728	0.71786	5.708017	0.999788454918342	0.43007	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.699875	0.68795	0	.	.	4.48	4.48	0.53973	8.941000	0.92488	.	.	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	11.741	0.51059	900	0.24599	GPCR, family 2, latrophilin, C-terminal;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	78.64	35	chr19	14151447	.	A	G	78.64	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.976e+00;DP=1048;ExcessHet=0.1072;FS=138.726;InbreedingCoeff=-0.0471;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.30;ReadPosRankSum=3.07;SOR=8.813	GT:AD:DP:GQ:PL	0/1:111,29:140:9:9,0,2470	19	0	2	0
chr19	14463960	14463960	G	A	exonic	PKN1	.	nonsynonymous SNV	PKN1:NM_002741:exon11:c.G1628A:p.R543Q	.	.	.	.	.	.	.	.	.	.	.	2680425	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.47	T	0.048	B	0.007	B	0.001	U	1.000	N	1.7	L	1.58	T	-1.057	T	0.064	T	0.186	-0.576	1.410	3.9	2.015	1.268	11.243	0.055	0.0389527203335	8e-05	.	0.0001	0	0	0.0013	0	4.574e-05	0	6.066e-05	9.7e-05	15	154602	rs369267115	6.158e-05	6.156e-05	5.174e-05	7.152e-05	0.0010	5.095e-05	4.716e-05	0.0007	0.0006	2.987e-05	0	0	0.0010	0	0	1.979e-05	0.0001	0.0003	6.568e-05	6.562e-05	6.425e-05	6.717e-05	0.0012	3.515e-05	2.615e-05	0.0005	0.0003	0	0	0	0	0.0012	0	0	2.941e-05	0.0005	0.0002	0.655	0.05061	T	0.632	0.19721	T	0.028	0.22112	B	0.003	0.12992	B	0.001342	0.39310	U	0.110120	1	0.08975	N	1.32	0.33002	L	1.58	0.29085	T	-0.67	0.20145	N	0.528	0.56058	-1.0570	0.12517	T	0.064	0.26562	T	10	0.031177163	0.01249	T	0.038953	0.58529	D	0.055	0.15663	.	.	0.369524611565	0.36568	0.3040582164422681	0.30318	0.380575872818	0.39422	0.451461344957	0.32144	T	0.114036	0.43154	T	-0.519364	0.00444	T	-0.576582	0.14852	T	0.0285269116620749	0.01765	T	0.847215	0.76702	T	0.04391394	0.06928	0.031956866	0.01860	0.04391394	0.06927	0.031956866	0.01859	-3.768	0.20327	T	.	.	0.071	0.30502	B	.;.;.	.;.;.	3.278699	0.44915	22.0	0.73372743588629585	0.10304	0.36746	0.25604	N	AEFBI	0.094082	0.19027	N	-0.538478614492639	0.20847	1.102024	-0.518412332052753	0.21654	1.172389	0.00440239775659703	0.10539	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	3.9	3.9	0.44240	1.379000	0.33946	.	.	0.614000	0.49286	0.031000	0.20493	1.000000	0.68203	0.033000	0.13494	0.0:0.0:1.0:0.0	11.243	0.48209	964	0.07719	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2364.98	39	chr19	14463960	.	G	A	2364.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.23;DP=887;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.00;ReadPosRankSum=0.620;SOR=0.728	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1092	20	0	1	0
chr19	14482855	14482855	C	T	exonic	GIPC1	.	nonsynonymous SNV	GIPC1:NM_202470:exon2:c.G122A:p.G41E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.137	B	0.066	B	0.000	D	1.000	D	1.04	L	-1.58	D	-0.628	T	0.335	T	0.466	1.100	9.488	3.91	2.192	0.144	9.752	0.355	0.374574609094	.	.	2.795e-05	0	0	0	0	5.713e-05	0	0	6.5e-06	1	154602	rs758629720	1.406e-06	1.368e-06	0	2.838e-06	1.83e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.83e-06	0	0	1.314e-05	1.313e-05	0	2.689e-05	0.0001	2.18e-06	8.2e-07	2.259e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	0.024	0.47745	D	0.199	0.27679	T	0.137	0.27402	B	0.066	0.27432	B	0.000006	0.62929	D	0.061993	0.958497	0.81001	D	1.32	0.33002	L	-1.58	0.81987	D	0.32	0.03955	N	0.381	0.42247	-0.6278	0.63664	T	0.335	0.70215	T	10	0.2427879	0.41481	T	0.374575	0.92827	D	0.355	0.67600	0.193	0.10437	0.918796294785	0.91797	0.2831645826179855	0.28229	0.269640530284	0.29486	0.797869205475	0.81638	T	0.071071	0.34118	T	0.0270681	0.55332	T	-0.19708	0.54922	T	0.168929129838943	0.18507	T	0.614539	0.23442	T	0.12634523	0.29595	0.12875016	0.30970	0.12634523	0.29595	0.12875016	0.30969	-4.947	0.36259	T	.	.	0.108	0.20547	B	.;.;.	.;.;.	1.983737	0.25203	16.68	0.96297188732673256	0.29334	0.21491	0.21420	N	AEFBI	0.201384	0.32804	N	-0.712274355595028	0.15677	0.7921231	-0.718278281519475	0.16506	0.8734895	0.563149551581434	0.21430	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.91	3.91	0.44383	0.687000	0.25088	.	.	0.507000	0.23093	0.000000	0.06391	1.000000	0.68203	0.050000	0.15192	0.0:0.7881:0.2119:0.0	9.752	0.39648	964	0.07719	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1622.98	35	chr19	14482855	.	C	T	1622.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=821;ExcessHet=0.0000;FS=2.296;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=0.919;SOR=0.942	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr19	14565825	14565825	G	T	exonic	TECR	.	nonsynonymous SNV	TECR:NM_138501:exon13:c.G881T:p.R294L	Mental retardation, autosomal recessive 14, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.738	P	0.299	B	0.000	D	1.000	D	1.67	L	1.55	T	-1.059	T	0.080	T	0.578	3.083	16.30	4.67	2.158	2.969	15.044	0.136	0.0467973206598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.074e-06	4.104e-06	2.749e-06	1.391e-06	1.181e-05	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	9.041e-07	1.675e-05	1.181e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.179	0.29540	T	0.441	0.35913	B	0.299	0.41006	B	0.000004	0.62929	D	0.062531	0.999994	0.58761	D	1.975	0.53506	M	1.55	0.29866	T	-2.73	0.58085	D	0.588	0.60833	-1.0589	0.12032	T	0.080	0.31824	T	10	0.27323818	0.44872	T	0.046797	0.62625	D	0.136	0.36778	.	.	0.206203607746	0.20212	0.8199194047453828	0.81948	1.89753283995	0.92781	0.587484359741	0.51139	T	0.760	0.93480	D	-0.0683684	0.41588	T	-0.335983	0.40800	T	0.941821694374084	0.61543	D	0.968603	0.90064	D	0.6326973	0.74442	0.41830006	0.65858	0.60582805	0.73005	0.48429114	0.70147	-9.648	0.71778	D	0.343706349741354	0.44132	0.531	0.67077	A	.;.;.	.;.;.	4.062637	0.60307	24.2	0.99690692898536659	0.79909	0.88845	0.48972	D	AEFGBCI	0.652452	0.62584	D	0.114828299077531	0.47155	2.945131	0.181496436204628	0.48834	3.094083	0.999999836839846	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.67	4.67	0.58089	3.779000	0.55085	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	15.044	0.71475	964	0.07719	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal;3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal;3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1470.98	41	chr19	14565825	.	G	T	1470.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.744;DP=814;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.01;MQRankSum=-1.050e-01;QD=17.10;ReadPosRankSum=0.192;SOR=0.746	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr19	14592312	14592312	C	G	exonic	CLEC17A	.	nonsynonymous SNV	CLEC17A:NM_001204118:exon4:c.C231G:p.D77E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.972	D	0.899	P	.	.	1.000	N	-0.345	N	0.04	T	-0.959	T	0.139	T	0.155	0.830	8.347	-2.39	-0.769	-0.665	4.785	0.152	0.0054505841751	.	.	1.624e-05	0	0	0	0	2.935e-05	0	0	3.84e-05	1	26028	rs764674868	2.067e-06	2.052e-06	2.739e-06	1.387e-06	1.179e-05	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	0	3.33e-05	1.179e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.36310	T	0.31	0.19721	T	0.972	0.57405	D	0.899	0.63802	P	.	.	.	.	1	0.18198	N	0.345	0.11182	N	0.04	0.62051	T	-1.11	0.28703	N	0.394	0.43514	-0.9586	0.39442	T	0.139	0.45791	T	9	0.20563331	0.36797	T	0.005451	0.14015	T	0.152	0.39956	0.127	0.03251	0.412587454835	0.40873	0.015112828977275122	0.01467	3.0674637903	0.99317	0.54123032093	0.44619	T	0.005108	0.04549	T	-0.176971	0.24187	T	-0.491983	0.23182	T	0.188233132688362	0.19740	T	0.515049	0.16594	T	0.06892516	0.15058	0.0551257	0.09611	0.06892516	0.15058	0.0551257	0.09610	-8.719	0.65870	D	.	.	0.808	0.77674	P	.;.	.;.	0.850171	0.12221	8.767	0.94017464690985053	0.24123	0.12213	0.17130	N	AEFBCI	0.034107	0.04168	N	-0.899872830590646	0.10845	0.5203105	-1.07414639793762	0.08212	0.4027593	3.62218883781903E-5	0.03775	0.722319	0.85440	0	0.698795	0.70079	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.2	-2.39	0.06223	-1.006000	0.03781	.	.	-0.694000	0.04098	0.800000	0.29721	0.000000	0.08366	0.122000	0.19250	0.0:0.3669:0.0:0.6331	4.785	0.12588	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1412.98	34	chr19	14592312	.	C	G	1412.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.313;DP=804;ExcessHet=0.0000;FS=0.702;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.64;MQRankSum=2.30;QD=11.77;ReadPosRankSum=-1.264e+00;SOR=0.573	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1224	20	0	1	0
chr19	14655062	14655062	C	T	exonic	ADGRE3	.	nonsynonymous SNV	ADGRE3:NM_001289158:exon5:c.G341A:p.R114Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.005	B	0.001	B	.	.	1.000	N	-1.7	N	2.92	T	-0.910	T	0.006	T	0.047	-1.220	0.063	-2.8	-0.579	-0.605	8.017	0.012	0.00275363869599	0.0002	0.000199681	6.591e-05	0.0005	8.649e-05	0	0	1.498e-05	0	6.057e-05	5.82e-05	9	154602	rs147235913	4.173e-05	4.241e-05	4.628e-05	3.713e-05	0.0010	3.311e-05	3.001e-05	0.0007	0.0006	0.0010	2.236e-05	0	0	0	0.0002	1.079e-05	0.0001	8.116e-05	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0	0	0	0	0	0	2.94e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.005	0.12996	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	2.92	0.09915	T	1.75	0.00728	N	0.159	0.16586	-0.9098	0.46879	T	0.006	0.02093	T	9	0.017352313	0.00370	T	0.002754	0.05694	T	0.012	0.01476	.	.	0.0401082797425	0.02173	0.07610563573250735	0.07546	0.159749721989	0.18028	0.189997524023	0.00225	T	5.57E-4	0.00219	T	-0.717507	0.00029	T	-0.886457	0.00603	T	0.0089885121888617	0.00112	T	0.30317	0.05747	T	0.018241463	0.00345	0.037181057	0.03318	0.018241463	0.00345	0.037181057	0.03318	-3.64	0.18437	T	.	.	0.067	0.02399	B	.;.	.;.	-0.725324	0.01263	0.066	0.32274455508986311	0.01861	0.00061	0.00447	N	AEFBI	0.021137	0.00909	N	-1.9795056393729	0.00234	0.01003452	-1.92944458699501	0.00428	0.01891902	3.44951454819653E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.64	-2.8	0.05477	-0.291000	0.08379	.	.	-2.776000	0.00191	0.030000	0.20431	0.002000	0.18203	0.000000	0.00833	0.0:0.4226:0.0:0.5774	8.017	0.29548	958	0.09170	.;GAIN domain, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1127.98	35	chr19	14655062	.	C	T	1127.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.77;DP=781;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=0.254;SOR=0.706	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1121	20	0	1	0
chr19	14715459	14715459	G	A	exonic	ZNF333	.	nonsynonymous SNV	ZNF333:NM_001300912:exon8:c.G589A:p.A197T	.	.	.	.	.	.	.	.	.	.	.	2427520	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.61	T	0.001	B	0.001	B	.	.	1.000	N	-0.205	N	5.62	T	-0.934	T	0.002	T	0.051	0.202	5.087	-1.28	-0.203	-2.094	3.954	0.001	0.00126775141501	0.0002	0.000199681	0.0001	9.95e-05	0	0	0	0.0001	0	0.0004	0.0001164	18	154602	rs140185448	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	0.0001	0.0004	0.0003	8.964e-05	4.474e-05	0	7.559e-05	0	0	0.0001	0.0001	0.0005	5.909e-05	5.905e-05	3.855e-05	8.055e-05	0.0002	3.075e-05	2.208e-05	3.762e-05	2.575e-05	4.81e-05	0	0	0	0	0	0	8.821e-05	0	0.0002	0.877	0.05002	T	0.761	0.04619	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.46	0.02758	N	5.62	0.00808	T	-1.12	0.28906	N	0.036	0.05414	-0.9341	0.43530	T	0.002	0.00526	T	9	0.030930966	0.01223	T	0.001268	0.01733	T	0.001	0.00016	.	.	0.0611884634855	0.05136	0.03608896506902745	0.03555	0.113894653225	0.12851	0.261178344488	0.05032	T	0.002995	0.02391	T	-0.685735	0.00044	T	-0.873356	0.00711	T	0.00437662833735498	0.00047	T	0.0164983	0.00091	T	0.024560615	0.01299	0.044042632	0.05617	0.024560615	0.01299	0.044042632	0.05616	-4.728	0.39705	T	.	.	0.088	0.20469	B	.;.	.;.	-0.911046	0.00907	0.034	0.42784697006350147	0.03177	0.00178	0.01045	N	AEFBI	0.010635	0.00079	N	-1.4435899518402	0.02268	0.09995377	-1.43888716637866	0.02872	0.132928	1.14750157863797E-5	0.02871	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	3.38	-1.28	0.08834	-1.302000	0.02854	.	.	-1.607000	0.00885	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3724:0.2186:0.409:0.0	3.954	0.08876	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	793.98	39	chr19	14715459	.	G	A	793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.564e+00;DP=769;ExcessHet=0.0000;FS=3.469;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.88;ReadPosRankSum=0.215;SOR=0.328	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1417	20	0	1	0
chr19	14718715	14718715	C	T	exonic	ZNF333	.	nonsynonymous SNV	ZNF333:NM_001352243:exon12:c.C695T:p.S232L	.	.	398	1121	3	0	0	3	0.0013363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.104	B	0.056	B	.	.	0.986	N	2.525	M	2.25	T	-1.004	T	0.050	T	0.533	1.722	11.72	2.39	0.796	0.250	4.310	0.112	0.0016347092852	.	.	0.0001	0	0	0	0	3e-05	0	0.0010	0.0001164	18	154602	rs762726378	9.235e-05	9.235e-05	5.173e-05	0.0001	0.0013	7.958e-05	7.432e-05	0.0011	0.0011	0	0	0	0	0	0	1.799e-05	0	0.0013	5.253e-05	5.249e-05	5.139e-05	5.371e-05	0.0015	2.555e-05	1.829e-05	0.0007	0.0005	0	0	0	0	0	0	0	1.47e-05	0	0.0015	0.001	0.78490	D	0.004	0.74150	D	0.104	0.25941	B	0.056	0.26147	B	.	.	.	.	0.985936	0.40356	D	1.75	0.45442	L	2.25	0.17761	T	-4.87	0.81269	D	0.256	0.28965	-1.0036	0.28874	T	0.050	0.21417	T	9	0.036693096	0.01981	T	0.001635	0.02651	T	0.112	0.31546	0.492	0.57890	0.148003135375	0.14442	0.06930639403176586	0.06868	0.20218460776	0.22641	0.620087742805	0.55741	T	0.038731	0.24941	T	-0.423466	0.01626	T	-0.426608	0.30320	T	0.18639396727699	0.19629	T	0.730127	0.34567	T	0.32973877	0.55449	0.39465058	0.64153	0.32973877	0.55449	0.39465058	0.64153	-7.797	0.59678	D	.	.	0.846	0.79531	P	.	.	2.972209	0.39618	21.0	0.99607065767159508	0.74575	0.00059	0.00440	N	AEFDBHCI	0.085346	0.17300	N	-0.556717480762098	0.20274	1.06755	-0.652211449105849	0.18160	0.9689405	0.0486770300179991	0.14777	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.44	2.39	0.28492	0.268000	0.18336	.	.	0.587000	0.30956	0.000000	0.06391	0.428000	0.24841	0.960000	0.51673	0.2237:0.6545:0.0:0.1217	4.310	0.10406	964	0.07719	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1218.98	46	chr19	14718715	.	C	T	1218.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.197e+00;DP=821;ExcessHet=0.0000;FS=1.431;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.83;ReadPosRankSum=-2.350e-01;SOR=0.720	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1014	20	0	1	0
chr19	14718795	14718795	C	T	exonic	ZNF333	.	nonsynonymous SNV	ZNF333:NM_001352243:exon12:c.C775T:p.H259Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.012	B	0.004	B	.	.	1.000	N	0.67	N	3.18	T	-0.971	T	0.014	T	0.164	-0.978	0.294	0.852	0.715	-0.256	3.726	0.046	0.000705293708289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.804	0.04017	T	0.012	0.16265	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.255	0.09829	N	3.18	0.07478	T	-2.06	0.47175	N	0.168	0.17828	-0.9710	0.36988	T	0.014	0.05513	T	9	0.03852266	0.02277	T	7.05E-4	0.00435	T	0.046	0.12618	0.344	0.33788	0.107399877778	0.10242	0.07740261930033064	0.07676	0.188085190649	0.21134	0.716208398342	0.69494	T	0.02268	0.17443	T	-0.288783	0.09757	T	-0.652593	0.08773	T	0.0369741165451726	0.03151	T	0.542646	0.18460	T	0.09028612	0.21122	0.12376942	0.29841	0.09028612	0.21122	0.12376942	0.29840	-3.893	0.22197	T	.	.	0.155	0.34272	B	.	.	1.861129	0.23640	16.10	0.80350099615842707	0.13161	0.00017	0.00201	N	ALL	0.044251	0.07097	N	-0.674046662458058	0.16764	0.8569397	-0.635204927734325	0.18591	0.9938187	0.00922602293551667	0.11818	0.566229	0.32551	0	0.615513	0.52658	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.26	0.852	0.18133	0.560000	0.23204	.	.	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.994000	0.71098	0.3586:0.5094:0.0:0.132	3.726	0.08003	964	0.07719	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1728.98	46	chr19	14718795	.	C	T	1728.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.000e-02;DP=882;ExcessHet=0.0000;FS=8.722;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=-9.070e-01;SOR=0.846	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1014	20	0	1	0
chr19	15011084	15011084	C	A	exonic	CCDC105	.	nonsynonymous SNV	CCDC105:NM_173482:exon1:c.C259A:p.P87T,	.	.	429	1088	3	0	2	5	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.994	D	0.001	D	0.828	N	1.04	L	1.49	T	-0.985	T	0.118	T	0.415	3.864	19.63	4.01	1.766	4.015	11.631	0.099	.	.	0.00279553	0.0050	0	0.0011	0.0006	0	0	0	0.0147	0.0012031	186	154602	rs568806898	0.0008	0.0008	0.0004	0.0011	0.0130	0.0008	0.0007	0.0124	0.0121	0	0	0	2.637e-05	0	0.0002	4.564e-06	0.0009	0.0130	0.0004	0.0005	0.0002	0.0007	0.0135	0.0004	0.0003	0.0108	0.0099	0	0	6.533e-05	0	0.0002	0	0	1.47e-05	0	0.0135	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000598	0.43095	D	0.000000	0.827618	0.28802	N	2.43	0.70455	M	1.49	0.31470	T	-1.92	0.44657	N	0.492	0.52563	-0.9853	0.33760	T	0.118	0.41582	T	10	0.0076455176	0.00174	T	.	.	.	0.099	0.28413	0.245	0.17984	0.492200611407	0.48855	0.4124005769182094	0.41156	1.26118825146	0.82032	0.522045612335	0.41913	T	0.032555	0.22535	T	-0.414212	0.01864	T	-0.357376	0.38356	T	0.109440566205491	0.13365	T	0.710029	0.32075	T	0.32342362	0.54927	0.34236997	0.59964	0.32342362	0.54927	0.34236997	0.59963	-4.177	0.26417	T	.	.	0.338	0.55788	B	.	.	4.647008	0.74039	26.1	0.99710697759777622	0.81283	0.93920	0.59575	D	AEFDBIJ	0.327035	0.42813	N	0.435237849557529	0.63372	4.569551	0.403499720151346	0.61783	4.383294	0.999999845249894	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.179345	0.04352	3	0.613276	0.41899	0	.	.	4.01	4.01	0.45821	4.063000	0.57214	.	.	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.835000	0.39381	0.0:1.0:0.0:0.0	11.631	0.50437	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1016.98	35	chr19	15011084	.	C	A	1016.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.840e-01;DP=799;ExcessHet=0.0000;FS=3.177;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=-1.973e+00;SOR=0.399	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1283	20	0	1	0
chr19	15021899	15021899	G	C	exonic	CCDC105	.	nonsynonymous SNV	CCDC105:NM_173482:exon6:c.G1231C:p.E411Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	N	2.125	M	2.93	T	-1.122	T	0.069	T	0.349	2.185	13.26	2.72	0.807	4.364	9.118	0.105	0.00621132848818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.751e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000065	0.52346	D	0.000000	0.999999	0.08975	N	2.625	0.76847	M	2.93	0.09822	T	-2.54	0.55025	D	0.765	0.76296	-1.1219	0.02215	T	0.069	0.28147	T	10	0.7687899	0.76914	D	0.006211	0.16288	T	0.105	0.29889	0.261	0.20473	0.63713380425	0.63415	0.6552378281062572	0.65459	1.18296360157	0.80066	0.50546592474	0.39589	T	0.046445	0.27425	T	-0.095895	0.37102	T	-0.375523	0.36245	T	0.854949235916138	0.50597	D	0.775622	0.40735	T	0.4125723	0.61594	0.3490407	0.60535	0.4125723	0.61594	0.3490407	0.60534	-4.384	0.29339	T	.	.	0.511	0.65069	A	.	.	3.756439	0.53871	23.4	0.99601888677156392	0.74278	0.62796	0.31890	D	AEFDBI	0.298657	0.40792	N	0.246768169254444	0.53480	3.516595	0.069732249366408	0.43037	2.613734	3.96445789839075E-4	0.06820	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.78	2.72	0.31179	4.338000	0.59099	.	.	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.115000	0.18958	0.0:0.2242:0.7758:0.0	9.118	0.35934	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2695.98	45	chr19	15021899	.	G	C	2695.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.584;DP=959;ExcessHet=0.0000;FS=5.137;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.85;ReadPosRankSum=0.066;SOR=0.783	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1575	20	0	1	0
chr19	15022921	15022921	C	G	exonic	CCDC105	.	nonsynonymous SNV	CCDC105:NM_173482:exon7:c.C1302G:p.D434E,	.	.	426	1095	0	1	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.98	T	0.001	B	0.004	B	0.063	N	1.000	N	1.245	L	4.35	T	-0.908	T	0.000	T	0.066	-0.297	2.581	-7.57	-1.315	-0.910	1.219	0.029	.	0.0004	0.0165735	0.0096	0.0016	0.0007	0.1236	0	8.728e-05	0.0044	0.0017	0.0053039	820	154602	rs17855585	0.0027	0.0027	0.0028	0.0026	0.0871	0.0026	0.0026	0.0846	0.0837	0.0005	0.0003	0	0.0871	1.892e-05	0.0005	5.409e-05	0.0052	0.0010	0.0032	0.0033	0.0028	0.0037	0.0801	0.0030	0.0029	0.0737	0.0712	0.0006	0	0.0013	0	0.0801	0	0	0.0001	0.0047	0.0033	0.894	0.02459	T	0.603	0.07868	T	0.001	0.07471	B	0.004	0.10090	B	0.063106	0.02163	N	1.973610	1	0.08975	N	0.35	0.11930	N	4.35	0.02319	T	0.11	0.05706	N	0.029	0.00666	-0.9085	0.47037	T	0.000	0.00152	T	10	0.002439648	0.00036	T	.	.	.	0.029	0.06676	0.091	0.01065	0.350524144436	0.34660	0.04719447810161773	0.04662	0.357060352235	0.37439	0.262520998716	0.05195	T	1.81E-4	0.00031	T	-0.725478	0.00025	T	-0.737398	0.04001	T	0.0101774585272166	0.00137	T	0.361964	0.08365	T	0.034538046	0.03894	0.044133186	0.05648	0.034538046	0.03894	0.044133186	0.05648	-2.595	0.06466	T	.	.	0.113	0.22354	B	.	.	-0.723711	0.01267	0.066	0.22436313089931387	0.00902	0.00317	0.01669	N	AEFDBI	0.018184	0.00532	N	-1.4220052291061	0.02446	0.1080261	-1.53341526980204	0.02092	0.0957062	0.993406500635499	0.33202	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.12	-7.57	0.01176	-0.872000	0.04327	.	.	-0.237000	0.07570	0.004000	0.16614	0.000000	0.08366	0.335000	0.25317	0.2191:0.3254:0.2682:0.1874	1.219	0.01803	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2599.98	38	chr19	15022921	.	C	G	2599.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=980;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.45;ReadPosRankSum=-7.080e-01;SOR=0.728	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,111,1412	20	0	1	0
chr19	15174177	15174177	G	T	exonic	NOTCH3	.	nonsynonymous SNV	NOTCH3:NM_000435:exon25:c.C4627A:p.L1543M,	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, Autosomal dominant;Lateral meningocele syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	793752	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.995	D	.	.	0.814	N	1.97	M	-2.29	D	0.052	D	0.705	D	0.385	2.751	15.16	2.69	0.458	0.304	7.447	0.433	0.132413347977	.	.	2.781e-05	0	0	0.0001	0	3.386e-05	0	0	1.94e-05	3	154602	rs111838442	4.805e-06	4.788e-06	4.099e-06	5.517e-06	2.52e-05	2e-06	1.29e-06	1.94e-06	1.28e-06	0	0	0	2.52e-05	0	0	5.398e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.06	0.45744	T	1.0	0.90584	D	0.995	0.83170	D	.	.	.	.	0.813986	0.28966	N	1.99	0.53851	M	-2.29	0.87591	D	-0.72	0.20358	N	0.278	0.31478	0.052	0.83285	D	0.705	0.89845	D	9	0.3739462	0.53688	T	0.132413	0.81473	D	0.433	0.73879	0.594	0.72371	0.872782803392	0.87154	0.837021198001228	0.83662	1.49514861928	0.86947	0.776437759399	0.78391	T	0.297819	0.67040	T	-0.0782476	0.39999	T	-0.177716	0.56734	T	0.258824776482055	0.23263	T	0.756624	0.37993	T	0.5374752	0.69255	0.35681304	0.61186	0.5374752	0.69256	0.35681304	0.61186	-9.626	0.71640	D	0.4814217321149822	0.56001	0.532	0.65990	A	.	.	3.792969	0.54605	23.5	0.99436715467927383	0.64571	0.33495	0.24842	N	AEFDGBCI	0.254654	0.37393	N	0.12356964505523	0.47564	2.980369	-0.00616900600009776	0.39435	2.338197	9.17004297123409E-4	0.08000	0.631981	0.41245	0	0.615948	0.52940	0	0.779548	0.98927	0	0.638833	0.57524	0	.	.	4.83	2.69	0.30923	0.220000	0.17445	.	.	0.617000	0.49538	0.021000	0.19753	0.987000	0.30940	0.997000	0.79791	0.2739:0.0:0.7261:0.0	7.447	0.26386	940	0.13648	Notch, NOD domain|Notch, NOD domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1815.98	33	chr19	15174177	.	G	T	1815.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.544e+00;DP=854;ExcessHet=0.0000;FS=5.244;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=-1.179e+00;SOR=0.608	GT:AD:DP:GQ:PL	0/1:60,70:132:99:1830,0,1673	20	0	1	0
chr19	15187216	15187216	T	C	exonic	NOTCH3	.	nonsynonymous SNV	NOTCH3:NM_000435:exon11:c.A1729G:p.T577A,	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, Autosomal dominant;Lateral meningocele syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	442135	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.96	T	0.0	B	0.008	B	.	.	0.946	N	0.53	N	-2.84	D	-0.644	T	0.442	T	0.604	1.623	11.38	3.4	1.798	1.172	7.387	0.481	0.0373999574789	7.7e-05	.	1.669e-05	0	8.718e-05	0	0	0	0.0011	0	1.29e-05	2	154602	rs368181126	2.6e-05	2.599e-05	1.77e-05	3.438e-05	0.0010	1.933e-05	1.692e-05	0.0005	0.0003	0.0002	6.709e-05	0	0	0	0.0010	6.295e-06	0.0002	3.478e-05	3.285e-05	3.283e-05	2.569e-05	4.034e-05	4.409e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	2.412e-05	0	0	0	0	0	0	4.409e-05	0.0005	0	0.528	0.07071	T	0.673	0.06245	T	0.0	0.02946	B	0.004	0.10090	B	.	.	.	.	0.946204	0.26638	N	1.17	0.29769	L	-2.84	0.91305	D	-0.5	0.15782	N	0.773	0.77039	-0.6441	0.62970	T	0.442	0.77983	T	9	0.18203616	0.33464	T	0.037	0.57590	D	0.481	0.77142	.	.	0.939213965693	0.93858	0.3580850142694082	0.35722	0.517390539339	0.49607	0.38988173008	0.23653	T	0.270097	0.64234	T	-0.0401241	0.45930	T	-0.113265	0.62351	T	0.0661561787128448	0.08100	T	0.659534	0.58869	T	0.14611273	0.33462	0.058888823	0.10960	0.12362478	0.29024	0.070227854	0.14895	-2.866	0.08808	T	.	.	0.068	0.02733	B	.;.	.;.	1.943795	0.24691	16.49	0.93160677804312997	0.22813	0.64114	0.32303	D	AEFBHCI	0.442566	0.50024	N	-0.536701087935679	0.20902	1.105365	-0.35961222778618	0.26213	1.446394	0.994220889696712	0.33542	0.675385	0.55134	0	0.547309	0.14657	0	0.693117	0.63056	0	0.567892	0.33627	0	.	.	4.51	3.4	0.38031	0.398000	0.20624	.	.	0.665000	0.62972	0.039000	0.20931	0.025000	0.21018	0.990000	0.65344	0.3736:0.0:0.0:0.6264	7.387	0.26062	940	0.13648	EGF-like domain|EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1832.98	33	chr19	15187216	.	T	C	1832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.169e+00;DP=837;ExcessHet=0.0000;FS=2.145;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.09;ReadPosRankSum=1.45;SOR=0.530	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1086	20	0	1	0
chr19	15192493	15192493	C	T	exonic	NOTCH3	.	nonsynonymous SNV	NOTCH3:NM_000435:exon3:c.G224A:p.R75Q,	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, Autosomal dominant;Lateral meningocele syndrome, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	704811	Cerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy|not_provided	MONDO:MONDO:0007432,MedGen:C0751587,OMIM:PS125310|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.29	T	0.964	D	0.603	P	.	.	0.979	N	1.3	L	-4.97	D	0.534	D	0.881	D	0.319	3.337	17.23	5.13	2.405	2.065	6.845	0.421	0.154130498894	0.0002	.	0.0005	0.0002	0	0.0029	0	3.263e-05	0	0.0012	0.0002264	35	154602	rs145069047	8.77e-05	9.166e-05	7.959e-05	9.593e-05	0.0013	7.491e-05	7.035e-05	0.0010	0.0009	0.0002	0	0	0.0013	0	0	8.135e-06	0.0002	0.0006	6.574e-05	6.564e-05	6.432e-05	6.724e-05	0.0012	3.518e-05	2.618e-05	0.0005	0.0003	7.226e-05	0	0	0	0.0012	0	0	1.471e-05	0	0	0.203	0.20154	T	0.283	0.21545	T	0.964	0.55854	D	0.603	0.50895	P	.	.	.	.	0.979448	0.25181	N	1.8	0.47472	L	-4.97	0.98468	D	-1.4	0.34596	N	0.109	0.09490	0.534	0.91017	D	0.881	0.96042	D	9	0.047407836	0.04056	T	0.15413	0.83528	D	0.421	0.73005	.	.	0.991323386047	0.99123	0.5561037590159307	0.55537	0.932308733551	0.71878	0.394392371178	0.24286	T	0.363627	0.72934	T	-0.20219	0.20489	T	-0.0764379	0.65164	T	0.0411022553981667	0.03891	T	0.134887	0.02245	T	0.1715401	0.37793	0.11975049	0.28901	0.1715401	0.37793	0.11975049	0.28901	-6.194	0.47874	T	.	.	0.091	0.13503	B	.;.	.;.	3.154301	0.42713	21.6	0.99934192355856233	0.99535	0.50730	0.28731	D	AEFDBI	0.190567	0.31779	N	0.126027497070115	0.47679	2.990302	0.14486876185166	0.46872	2.926081	0.912463521255651	0.26396	0.719381	0.83141	0	0.573888	0.26702	0	0.723133	0.82415	0	0.542086	0.14980	0	.	.	5.13	5.13	0.69729	0.214000	0.17331	.	.	0.596000	0.33519	0.000000	0.06391	0.103000	0.22699	0.707000	0.34357	0.1763:0.7354:0.0:0.0883	6.845	0.23165	929	0.16858	EGF-like domain|EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1099.98	37	chr19	15192493	.	C	T	1099.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.520;DP=839;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.67;ReadPosRankSum=0.188;SOR=0.704	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr19	15238869	15238869	-	TGC	exonic	BRD4	.	nonframeshift insertion	BRD4:NM_001379291:exon19:c.3893_3894insGCA:p.Q1300_A1301insQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.258e-05	0	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs780701875	2.072e-05	2.052e-05	1.372e-05	2.78e-05	0.0002	1.47e-05	1.276e-05	0.0001	0.0001	0	0	0	0	0	0	9.944e-06	1.676e-05	0.0002	2.628e-05	2.627e-05	1.284e-05	4.035e-05	0.0002	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	963.94	37	chr19	15238869	.	T	TTGC	963.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.424;DP=767;ExcessHet=0.0000;FS=1.097;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.67;ReadPosRankSum=0.301;SOR=0.906	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr19	15373212	15373212	C	T	exonic	AKAP8	.	nonsynonymous SNV	AKAP8:NM_005858:exon5:c.G500A:p.G167E,	.	.	426	1083	12	1	0	14	0.00642202	.	.	727981	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.747	P	0.255	B	0.080	N	0.885	D	1.04	L	1.03	T	-0.992	T	0.040	T	0.429	-1.018	0.235	1.36	0.170	1.142	8.136	0.157	.	0.0038	0.00339457	0.0063	0.0002	0.0002	0	0.0220	0.0075	0.0045	0.0062	0.005996	927	154602	rs148526102	0.0070	0.0070	0.0070	0.0070	0.0074	0.0069	0.0068	0.0072	0.0072	0.0008	0.0005	3.826e-05	0	0.0216	0.0019	0.0074	0.0052	0.0057	0.0055	0.0055	0.0050	0.0060	0.0075	0.0052	0.0051	0.0069	0.0067	0.0012	0	0.0007	0	0	0.0220	0	0.0075	0.0047	0.0052	1.0	0.00964	T	0.006	0.70582	D	0.747	0.43174	P	0.255	0.39216	B	0.079633	0.20972	N	0.405180	0.884569	0.35821	D	1.445	0.36358	L	1.03	0.40469	T	0.29	0.04161	N	0.252	0.28498	-0.9920	0.32089	T	0.040	0.17319	T	10	0.0057455003	0.00128	T	.	.	.	0.157	0.40909	.	.	0.436332547184	0.43250	0.366624680618726	0.36576	0.37248803291	0.38741	0.346873819828	0.17461	T	0.112894	0.42951	T	-0.479421	0.00745	T	-0.446495	0.28083	T	0.00767575077867669	0.00089	T	0.724128	0.33779	T	0.016027734	0.00172	0.04707668	0.06701	0.016027734	0.00171	0.04707668	0.06701	-4.783	0.34392	T	.	.	0.294	0.52516	B	.	.	1.744486	0.22197	15.52	0.49295590608697232	0.04186	0.57086	0.30285	D	AEFDBCI	0.072072	0.14370	N	-0.751242185936867	0.14599	0.728614	-0.787713587752975	0.14797	0.7750046	0.0316849638592592	0.14015	0.706548	0.73137	0	0.697927	0.68747	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.82	1.36	0.21139	0.812000	0.26869	.	.	-0.194000	0.09177	0.454000	0.26597	0.809000	0.27020	0.184000	0.21420	0.0:0.6162:0.2997:0.0841	8.136	0.30219	656	0.62345	.	.	.	.	.	rs148526102	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1282.98	36	chr19	15373212	.	C	T	1282.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.500e-01;DP=825;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.60;ReadPosRankSum=0.516;SOR=0.730	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1197	20	0	1	0
chr19	15427423	15427423	C	T	exonic	WIZ	.	nonsynonymous SNV	WIZ:NM_001330395:exon4:c.G1057A:p.V353M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.982	D	0.000	D	0.961	D	0.895	L	1.4	T	-0.853	T	0.143	T	0.41	4.073	20.9	4.82	1.481	4.494	13.763	0.118	0.0160111272954	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1305559546	4.105e-06	4.104e-06	4.085e-06	4.126e-06	1.159e-05	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.34621	T	0.003	0.76473	D	0.997	0.70673	D	0.945	0.68163	D	0.000092	0.51296	D	0.133325	0.960539	0.38186	D	.	.	.	1.4	0.33630	T	-0.94	0.27669	N	0.767	0.76481	-0.8533	0.51739	T	0.143	0.46532	T	10	0.27501917	0.45058	T	0.016011	0.37051	T	0.118	0.32913	.	.	0.174091166621	0.17034	0.7244018020996035	0.72384	1.32565770736	0.83561	0.76439666748	0.76584	T	0.052733	0.29245	T	-0.098899	0.36609	T	-0.379838	0.35741	T	0.684443175792694	0.39992	D	0.943406	0.78638	D	.	.	.	.	.	.	.	.	-13.545	0.93730	D	.	.	0.904	0.88652	P	.;.;.;.;.;.	.;.;.;.;.;.	4.959685	0.81993	27.7	0.99859537082978145	0.93820	0.86601	0.45915	D	AEFDGBCI	0.320437	0.42354	N	0.439953511530117	0.63636	4.601142	0.471303110063701	0.66096	4.907814	0.0276084713237111	0.13783	0.706548	0.73137	0	0.697927	0.68747	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.85	4.82	0.61641	4.511000	0.60181	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.9255:0.0:0.0745	13.763	0.62465	654	0.62520	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2020.98	155	chr19	15427423	.	C	T	2020.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=843;ExcessHet=0.0000;FS=1.256;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.04;ReadPosRankSum=0.206;SOR=0.807	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1116	20	0	1	0
chr19	15438758	15438758	G	T	exonic	WIZ	.	nonsynonymous SNV	WIZ:NM_001371589:exon4:c.C2236A:p.H746N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	.	.	.	.	0.699	N	1.000	D	.	.	4.45	T	-0.786	T	0.007	T	0.102	0.106	4.569	2.19	1.074	3.445	10.514	0.034	0.00544577564158	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.698873	0.10111	N	0.839536	0.999985	0.54805	D	.	.	.	.	.	.	.	.	.	.	.	-0.7857	0.55979	T	0.007	0.02598	T	7	0.14508367	0.27526	T	0.005446	0.13984	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.729627	0.34527	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.14706	B	.	.	1.602100	0.20483	14.77	0.71879011498556289	0.09779	0.55781	0.29950	D	AEFDBHCI	0.119512	0.23322	N	-0.0755552100559216	0.38466	2.25341	-0.0774116657816111	0.36326	2.112602	0.0670005376451906	0.15412	0.615465	0.37627	0	0.588066	0.40923	0	0.576033	0.28219	0	0.655142	0.61905	0	.	.	4.73	2.19	0.26890	4.123000	0.57668	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.684000	0.33659	0.0:0.0:0.4086:0.5914	10.514	0.44068	653	0.62661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	34.17	2	chr19	15438758	.	G	T	34.17	.	AC=2;AF=0.067;AN=30;DP=76;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3092;MLEAC=2;MLEAF=0.067;MQ=60.00;QD=17.08;SOR=0.693	GT:AD:DP:GQ:PL	./.	14	1	0	6
chr19	15439579	15439579	G	T	exonic	WIZ	.	nonsynonymous SNV	WIZ:NM_001371589:exon4:c.C1415A:p.P472H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	0.002	N	1.000	D	.	.	4.11	T	-1.089	T	0.019	T	0.218	1.936	12.43	3.03	0.754	2.542	8.518	0.054	0.00265355355316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001644	0.38382	N	0.110120	0.999999	0.58761	D	.	.	.	.	.	.	.	.	.	.	.	-1.0888	0.05735	T	0.019	0.07893	T	7	0.15592214	0.29376	T	0.002654	0.05406	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.613539	0.23382	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.44885	B	.	.	2.942065	0.39120	20.9	0.99383786611228442	0.62024	0.78302	0.38611	D	AEFDBCI	0.217630	0.34273	N	-0.0375311183385314	0.40162	2.380377	-0.0728850108532221	0.36516	2.126065	0.0252420022270558	0.13635	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	5.13	3.03	0.34070	2.606000	0.45956	.	.	0.618000	0.50648	0.997000	0.40164	1.000000	0.68203	0.024000	0.12247	0.1793:0.0:0.8207:0.0	8.518	0.32418	653	0.62661	Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	33.16	85	chr19	15439579	.	G	T	33.16	.	AC=2;AF=0.059;AN=34;DP=85;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2664;MLEAC=2;MLEAF=0.059;MQ=60.00;QD=16.58;SOR=0.693	GT:AD:DP:GQ:PL	./.	16	1	0	4
chr19	15454364	15454364	G	C	exonic	RASAL3	.	nonsynonymous SNV	RASAL3:NM_022904:exon13:c.C2157G:p.D719E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.952	P	0.652	P	0.004	N	0.536	D	1.555	L	-1.54	D	-0.147	T	0.429	T	0.168	1.595	11.29	3.43	0.724	2.066	7.550	0.261	0.0669926006108	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1179428643	2.058e-06	2.052e-06	1.364e-06	2.758e-06	3.501e-05	5.5e-07	1.5e-07	9.3e-06	4.58e-06	0	0	0	0	0	0	0	0	3.501e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.24183	T	0.03	0.54159	D	0.191	0.29411	B	0.056	0.26147	B	0.003842	0.34414	N	0.130623	0.536173	0.32016	D	2.045	0.56016	M	-1.54	0.81640	D	-1.91	0.44471	N	0.129	0.12341	-0.1468	0.78995	T	0.429	0.77134	T	10	0.2287175	0.39783	T	0.066993	0.70037	D	0.261	0.57352	0.275	0.22687	0.741307685287	0.73898	0.20572104957426435	0.20489	0.310816969708	0.33391	0.509232878685	0.40114	T	0.058199	0.30778	T	-0.108521	0.35012	T	-0.293029	0.45456	T	0.345440566539764	0.26839	T	0.659534	0.26859	T	0.070469834	0.15523	0.065587215	0.13315	0.070469834	0.15523	0.065587215	0.13314	-6.84	0.52856	T	.	.	0.464	0.62874	A	.;.	.;.	2.367001	0.30367	18.41	0.97953459493643802	0.37122	0.94883	0.62661	D	AEFDGBHCI	0.657073	0.62884	D	-0.181393470984386	0.33910	1.929287	-0.136418260146831	0.33935	1.946516	0.999999787489637	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.596491	0.31596	0	0.683535	0.66460	0	.	.	5.55	3.43	0.38372	2.110000	0.41497	.	.	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.845000	0.39915	0.2595:0.0:0.7405:0.0	7.550	0.26956	652	0.62785	.;Ras GTPase-activating domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1575.98	34	chr19	15454364	.	G	C	1575.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.75;DP=874;ExcessHet=0.0000;FS=2.187;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=-1.171e+00;SOR=0.932	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1132	20	0	1	0
chr19	15623104	15623104	G	C	splicing	CYP4F8	NM_007253:exon7:c.648-1G>C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.563	14.53	3.2	1.607	5.401	11.881	.	.	.	0.00439297	0.0027	0.0001	9.527e-05	0	0	1.584e-05	0.0012	0.0199	0.0022315	345	154602	rs562244283	0.0010	0.0010	0.0005	0.0015	0.0166	0.0010	0.0010	0.0159	0.0156	0.0001	0	0	2.522e-05	0	0.0002	1.711e-05	0.0010	0.0166	0.0006	0.0006	0.0003	0.0009	0.0189	0.0005	0.0005	0.0158	0.0146	2.409e-05	0	0	0	0	0	0	1.47e-05	0	0.0189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.272054	0.11529	T	-0.149283	0.59307	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.444701	0.47939	22.5	0.98772072228862506	0.45986	0.94518	0.61425	D	AEFDBI	.	.	.	0.760208660145065	0.83567	8.051636	0.497029836869087	0.67793	5.131794	0.74257461874146	0.23235	0.053691	0.00478	0	0.060609	0.00678	0	0.060301	0.00762	0	0.057018	0.00518	0	0.710733	0.43154	3.2	3.2	0.35826	4.805000	0.62253	.	.	0.591000	0.32079	1.000000	0.71638	1.000000	0.68203	0.694000	0.33958	0.0:0.0:1.0:0.0	11.881	0.51857	917	0.20147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1236.98	39	chr19	15623104	.	G	C	1236.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.077e+00;DP=779;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.90;ReadPosRankSum=0.457;SOR=0.614	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1308	20	0	1	0
chr19	15624072	15624072	C	G	exonic	CYP4F8	.	nonsynonymous SNV	CYP4F8:NM_007253:exon9:c.C1093G:p.R365G,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.998	D	0.988	D	0.000	U	0.985	D	.	.	.	.	-0.561	T	0.252	T	0.06	0.417	6.268	2.06	0.504	0.916	3.679	0.274	.	7.7e-05	0.000798722	0.0006	0	0.0002	0	0	5.998e-05	0.0011	0.0036	0.0004657	72	154602	rs370903597	0.0002	0.0002	0.0001	0.0003	0.0033	0.0002	0.0002	0.0030	0.0028	5.974e-05	4.472e-05	0	0	0	0.0002	1.529e-05	0.0002	0.0033	0.0001	0.0001	8.996e-05	0.0001	0.0029	7.574e-05	6.279e-05	0.0018	0.0014	0	0	6.538e-05	0	0	0	0	4.411e-05	0	0.0029	.	.	.	0.175	0.29945	T	0.998	0.73220	D	0.988	0.77976	D	0.000344	0.45440	U	0.082502	.	.	.	.	.	.	.	.	.	.	.	.	0.42	0.45992	-0.5606	0.66381	T	0.252	0.62189	T	7	0.010400295	0.00232	T	.	.	.	.	.	.	.	0.408307896497	0.40449	0.5709341853894667	0.57021	.	.	0.42161861062	0.28060	T	0.168691	0.51579	T	-0.45848	0.01005	T	-0.433457	0.29544	T	0.150556966662407	0.17148	T	0.759724	0.38410	T	0.17579539	0.38457	0.18966629	0.42326	0.17579539	0.38457	0.18966629	0.42325	-9.904	0.73334	D	.	.	0.132	0.28578	B	.	.	3.341473	0.46043	22.2	0.96699160039821674	0.30766	0.09509	0.15249	N	AEFBCI	.	.	.	-0.0679040349027641	0.38806	2.278572	-0.196747287260236	0.31655	1.793548	2.63094468161319E-5	0.03498	0.078448	0.01964	0	0.097471	0.02872	0	0.074216	0.02223	0	0.057018	0.00518	0	0.130854	0.25793	3.11	2.06	0.25932	0.734000	0.25769	.	.	-0.995000	0.01833	0.571000	0.27513	0.005000	0.19230	0.076000	0.17014	0.2415:0.6223:0.0:0.1362	3.679	0.07836	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2213.98	34	chr19	15624072	.	C	G	2213.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.099;DP=941;ExcessHet=0.0000;FS=5.404;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.50;ReadPosRankSum=-5.700e-02;SOR=1.023	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1225	20	0	1	0
chr19	15628776	15628776	C	T	exonic	CYP4F8	.	nonsynonymous SNV	CYP4F8:NM_007253:exon12:c.C1330T:p.R444C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.982	D	0.000	U	0.999	D	.	.	.	.	-0.044	T	0.360	T	0.294	2.869	15.56	3.32	1.681	3.838	12.152	0.491	.	.	.	7.48e-05	0.0002	8.654e-05	0	0	4.508e-05	0	0.0002	5.82e-05	9	154602	rs768693886	3.013e-05	3.147e-05	2.862e-05	3.166e-05	0.0003	2.284e-05	2.034e-05	0.0001	0.0001	2.996e-05	0.0001	3.849e-05	0	0	0.0003	1.35e-05	1.659e-05	0.0002	7.236e-05	7.225e-05	0.0001	4.041e-05	0.0002	3.976e-05	3.131e-05	9.576e-05	6.971e-05	0.0002	0	6.555e-05	0	0	0	0	1.471e-05	0	0.0002	.	.	.	0.014	0.62352	D	0.999	0.77913	D	0.982	0.75477	D	0.000001	0.84330	U	0.000000	.	.	.	.	.	.	.	.	.	.	.	.	0.867	0.86404	-0.0437	0.81340	T	0.360	0.72193	T	7	0.97108936	0.96712	D	.	.	.	.	.	0.882	0.96934	0.365509141856	0.36162	0.960141007681125	0.96000	.	.	0.54848587513	0.45644	T	0.456855	0.79546	T	-0.117287	0.33568	T	-0.146572	0.59547	T	0.851515710353851	0.50298	D	0.953005	0.82069	D	0.5006914	0.67135	0.3752178	0.62671	0.5006914	0.67136	0.3752178	0.62670	-9.97	0.73732	D	.	.	0.283	0.51540	B	.	.	4.949380	0.81744	27.6	0.99907971124516859	0.97801	0.94718	0.62091	D	AEFBI	.	.	.	0.314975411832367	0.56916	3.857291	0.211592398995131	0.50489	3.240461	0.946339183460402	0.27701	0.053691	0.00478	0	0.060609	0.00678	0	0.060301	0.00762	0	0.058706	0.01089	0	0.784498	0.46381	3.32	3.32	0.37134	2.323000	0.43482	.	.	0.526000	0.24426	0.969000	0.34210	0.658000	0.26000	0.266000	0.23669	0.0:1.0:0.0:0.0	12.152	0.53358	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1130.98	115	chr19	15628776	.	C	T	1130.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.845;DP=1567;ExcessHet=0.0000;FS=0.707;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.83;ReadPosRankSum=0.569;SOR=0.823	GT:AD:DP:GQ:PL	0/0:75,0:75:99:0,120,1800	20	0	1	0
chr19	15650073	15650073	G	A	exonic	CYP4F3	.	nonsynonymous SNV	CYP4F3:NM_001369696:exon6:c.G808A:p.V270I	.	.	416	1099	7	0	0	7	0.0031746	.	.	704823	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.05	B	0.19	B	0.004	U	0.971	D	0.395	N	-0.34	T	-0.899	T	0.131	T	0.126	1.854	12.16	2.94	0.667	4.257	9.454	0.047	.	0.0065	0.00299521	0.0063	0.0008	0.0036	0	0.0074	0.0093	0.0121	0.0021	0.006216	961	154602	rs28371536	0.0083	0.0083	0.0083	0.0082	0.0095	0.0082	0.0081	0.0093	0.0093	0.0011	0.0044	0.0010	0	0.0117	0.0009	0.0095	0.0076	0.0023	0.0060	0.0060	0.0061	0.0060	0.0102	0.0057	0.0056	0.0096	0.0094	0.0013	0.0044	0.0027	0.0012	0	0.0093	0	0.0102	0.0061	0.0019	0.051	0.39334	T	0.135	0.34124	T	0.05	0.22331	B	0.19	0.36341	B	0.003680	0.34636	U	0.182612	0.971439	0.38870	D	1.68	0.43186	L	-0.34	0.68474	T	-0.88	0.23808	N	0.289	0.35938	-0.8995	0.48044	T	0.131	0.44208	T	10	0.011344999	0.00248	T	.	.	.	0.047	0.12962	.	.	0.490213675041	0.48656	0.13366900046223854	0.13290	0.0561972095578	0.06208	0.382042884827	0.22546	T	0.004483	0.03887	T	-0.463997	0.00928	T	-0.426952	0.30281	T	0.0277760677252744	0.01655	T	0.827017	0.49049	T	0.0976641	0.23025	0.116235085	0.28059	0.0976641	0.23025	0.116235085	0.28058	-8.481	0.64303	D	.	.	0.078	0.14108	B	.;.;.;.	.;.;.;.	2.154418	0.27447	17.46	0.99233812548089384	0.56310	0.72834	0.35637	D	AEFGBI	0.579001	0.57998	D	-0.435739552007726	0.24227	1.306619	-0.352826101920478	0.26421	1.459297	0.00535651072758603	0.10912	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.562822	0.20929	0	.	.	3.99	2.94	0.33188	4.112000	0.57585	.	.	0.618000	0.50648	1.000000	0.71638	0.000000	0.08366	0.223000	0.22544	0.1084:0.0:0.8916:0.0	9.454	0.37907	934	0.15400	.;.;.;.	CTC-429P9.1	Artery_Tibial	.	.	rs28371536	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	4184.98	34	chr19	15650073	.	G	A	4184.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.78;DP=1063;ExcessHet=0.0000;FS=7.114;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.13;MQRankSum=-2.897e+00;QD=12.27;ReadPosRankSum=-1.308e+00;SOR=0.590	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr19	15794206	15794206	G	A	exonic	OR10H5	.	nonsynonymous SNV	OR10H5:NM_001004466:exon1:c.G158A:p.R53H,	.	.	424	1094	4	0	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.003	B	0.003	B	0.022	N	1.000	N	0.19	N	5.36	T	-0.911	T	0.002	T	0.131	-1.325	0.032	-0.431	-0.251	-0.880	4.016	0.020	0.0035620883123	.	0.000199681	6.589e-05	0	0	0.0001	0	2.997e-05	0	0.0003	5.82e-05	9	154602	rs201519867	6.225e-05	6.225e-05	6.67e-05	5.775e-05	0.0005	5.161e-05	4.78e-05	0.0002	0.0001	0	4.472e-05	0	5.038e-05	0	0.0005	5.306e-05	6.623e-05	0.0002	5.258e-05	5.251e-05	9e-05	1.345e-05	0.0002	2.558e-05	1.831e-05	2.848e-05	1.859e-05	2.408e-05	0	0	0	0.0002	0	0	7.354e-05	0	0.0002	0.475	0.08359	T	0.634	0.07105	T	0.003	0.11197	B	0.003	0.08700	B	0.021808	0.26758	N	0.266615	1	0.08975	N	0.585	0.15399	N	5.36	0.01050	T	-1.31	0.32791	N	0.064	0.03613	-0.9106	0.46781	T	0.002	0.00707	T	10	0.031183064	0.01250	T	0.003562	0.08123	T	0.020	0.03691	.	.	0.124217242631	0.12060	0.12644482595106277	0.12570	0.349266294776	0.36782	0.161790028214	0.00012	T	0.004617	0.04028	T	-0.585545	0.00178	T	-0.756905	0.03225	T	0.0203822683542967	0.00738	T	0.218978	0.02800	T	0.037217133	0.04729	0.025494576	0.00596	0.037217133	0.04729	0.025494576	0.00596	-1.685	0.02190	T	.	.	0.081	0.08417	B	.;.	.;.	0.542251	0.09109	5.891	0.32810467119076919	0.01921	0.02859	0.07623	N	AEFBI	0.051068	0.08986	N	-1.32502800582452	0.03391	0.1513942	-1.35247099962648	0.03777	0.1768771	1.48381711586254E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.47	-0.431	0.11682	-0.883000	0.04278	.	.	-0.142000	0.12367	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3671:0.1743:0.4587:0.0	4.016	0.09133	976	0.04745	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	9103.08	229	chr19	15794206	.	G	A	9103.08	.	AC=2;AF=0.048;AN=42;DP=3674;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=59.37;QD=32.40;SOR=1.046	GT:AD:DP:GQ:PL	0/0:342,0:342:99:0,120,1800	20	1	0	0
chr19	15879401	15879401	C	T	exonic	CYP4F2	.	nonsynonymous SNV	CYP4F2:NM_001082:exon12:c.G1342A:p.E448K,	.	.	.	.	.	.	.	.	.	.	.	2344034	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.001	B	0.028	B	0.849	U	1.000	N	2.505	M	-0.49	T	-0.682	T	0.308	T	0.131	1.116	9.550	0.748	0.534	1.269	5.510	0.150	0.0125686926118	.	.	0.0002	0	8.637e-05	0	0	8.994e-05	0.0011	0.0010	3.84e-05	1	26028	rs764508037	0.0001	0.0005	0.0001	0.0001	0.0006	8.857e-05	8.342e-05	0.0005	0.0004	2.988e-05	0	0	2.52e-05	5.617e-05	0	7.562e-05	0.0001	0.0006	0.0001	0.0006	0.0001	8.069e-05	0.0004	7.096e-05	5.752e-05	0.0001	8.894e-05	4.814e-05	0	0	0	0	0	0	0.0002	0	0.0004	0.029	0.45756	D	0.034	0.53072	D	0.001	0.07471	B	0.028	0.21332	B	0.848965	0.08977	U	0.885835	1	0.08975	N	2.79	0.81396	M	-0.49	0.70365	T	-2.41	0.52938	N	0.23	0.31253	-0.6816	0.61298	T	0.308	0.67840	T	10	0.07914406	0.12699	T	0.012569	0.31260	T	0.150	0.39571	.	.	0.634365452782	0.63136	0.7605531224126808	0.76003	0.257202866929	0.28292	0.512010157108	0.40504	T	0.117107	0.43695	T	-0.131836	0.31199	T	-0.42715	0.30259	T	0.102110080420971	0.12588	T	0.566043	0.20156	T	0.31540284	0.54250	0.2150091	0.46073	0.31540284	0.54250	0.2150091	0.46072	-8.014	0.61165	D	.	.	0.073	0.04806	B	.;.	.;.	2.111630	0.26872	17.27	0.98948814732808876	0.49093	0.04983	0.10754	N	AEFDBI	0.077030	0.15509	N	-0.663371656343464	0.17071	0.8753734	-0.768403273427653	0.15271	0.8023088	1.23938273346686E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.05	0.748	0.17525	0.921000	0.28338	.	.	0.501000	0.22741	0.002000	0.15269	0.000000	0.08366	0.053000	0.15439	0.0:0.6568:0.2118:0.1313	5.510	0.16167	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	37.98	60	chr19	15879401	.	C	T	37.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.84;DP=1124;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.17;MQRankSum=-1.003e+01;QD=0.25;ReadPosRankSum=-6.830e-01;SOR=0.576	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr19	15879788	15879788	G	A	exonic	CYP4F2	.	nonsynonymous SNV	CYP4F2:NM_001082:exon10:c.C1225T:p.P409S,	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.893	P	0.77	P	0.000	U	1.000	D	1.445	L	-0.35	T	-0.646	T	0.284	T	0.222	2.303	13.66	1.72	0.478	5.639	7.512	0.303	0.0086737213106	7.7e-05	.	0.0003	0	0	0.0001	0.0033	0.0001	0	6.056e-05	0.0002135	33	154602	rs200492423	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	7.997e-05	6.236e-05	0	2.236e-05	3.826e-05	0.0001	0.0019	0	6.205e-05	0.0001	0.0001	0.0002	0.0002	0.0002	0.0003	0.0006	0.0002	0.0001	0.0002	8.398e-05	0	0	6.536e-05	0	0.0006	0.0021	0	0.0001	0.0005	0.0002	0.071	0.35165	T	0.069	0.43913	T	0.893	0.49136	P	0.77	0.56828	P	0.000252	0.46924	U	0.086241	0.999201	0.46326	D	2.92	0.84325	M	-0.35	0.68616	T	-7.29	0.94457	D	0.376	0.44283	-0.6461	0.62883	T	0.284	0.65635	T	10	0.070025116	0.10129	T	0.008674	0.22903	T	0.303	0.62400	.	.	0.779242064684	0.77721	0.7434327795734136	0.74289	0.441832569809	0.44166	0.299775838852	0.10368	T	0.24599	0.61539	T	-0.226322	0.17138	T	-0.326204	0.41889	T	0.264668284688686	0.23518	T	0.891311	0.62583	D	0.259097	0.48962	0.25725576	0.51439	0.259097	0.48961	0.25725576	0.51438	-8.108	0.61805	D	.	.	0.142	0.31304	B	.;.	.;.	4.075996	0.60593	24.2	0.99797735414175182	0.88283	0.86713	0.46053	D	AEFDBHCI	0.737995	0.68302	D	0.0514573262499885	0.44208	2.699201	-0.0831265311007021	0.36087	2.095725	8.55806236591755E-4	0.07917	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.78	1.72	0.23498	5.901000	0.69600	.	.	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.131000	0.19607	0.139:0.0:0.8609:0.0	7.512	0.26748	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	5151.08	46	chr19	15879788	.	G	A	5151.08	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.47;DP=1080;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=33.67;ReadPosRankSum=1.26;SOR=0.761	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	1	0	0
chr19	15879802	15879802	T	G	exonic	CYP4F2	.	nonsynonymous SNV	CYP4F2:NM_001082:exon10:c.A1211C:p.Q404P,	.	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.979	D	0.932	D	0.032	U	1.000	D	2.845	M	-0.39	T	-0.078	T	0.457	T	0.593	1.655	11.49	2.78	1.252	3.395	8.967	0.524	0.0204302071039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.013	0.63109	D	0.979	0.59044	D	0.932	0.66722	D	0.032016	0.25089	U	0.319446	0.997044	0.43591	D	3.91	0.96185	H	-0.39	0.69158	T	-3.97	0.73684	D	0.675	0.68255	-0.0781	0.80596	T	0.457	0.78889	T	10	0.83292985	0.82453	D	0.02043	0.43023	T	0.524	0.79825	0.604	0.73586	0.825749811365	0.82409	0.8348156842057224	0.83440	0.671559329977	0.59466	0.333043277264	0.15393	T	0.221985	0.58570	T	0.0756719	0.61531	D	-0.129079	0.61049	T	0.977413237094879	0.71833	D	0.859214	0.55036	D	0.92091405	0.93337	0.8451373	0.91179	0.92091405	0.93338	0.8451373	0.91179	-13.712	0.92083	D	.	.	0.492	0.64210	A	.;.	.;.	3.990395	0.58720	24.0	0.99246766318349089	0.56727	0.82398	0.41631	D	AEFDBHCI	0.808978	0.73261	D	0.334021728871265	0.57903	3.959568	0.15130641697905	0.47211	2.955	2.29942251699395E-4	0.06048	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.78	2.78	0.31702	3.495000	0.53043	.	.	0.576000	0.29215	1.000000	0.71638	0.392000	0.24668	0.169000	0.20946	0.0:0.0:0.0:1.0	8.967	0.35044	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	5176.08	46	chr19	15879802	.	T	G	5176.08	.	AC=2;AF=0.048;AN=42;DP=961;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.56;SOR=0.768	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	1	0	0
chr19	15934266	15934266	A	T	exonic	CYP4F11	.	nonsynonymous SNV	CYP4F11:NM_021187:exon1:c.T143A:p.L48H	.	.	408	1080	31	3	0	37	0.0168411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.036	U	1.000	N	2.045	M	-4.34	D	0.437	D	0.876	D	0.342	1.853	12.16	1.15	0.283	4.594	5.460	0.346	.	0.0028	0.00299521	0.0046	0.0006	0.0018	0	0.0006	0.0044	0.0099	0.0135	0.0041979	649	154602	rs144570608	0.0046	0.0046	0.0042	0.0050	0.0144	0.0045	0.0044	0.0132	0.0129	0.0007	0.0019	0.0031	2.519e-05	0.0007	0.0144	0.0044	0.0052	0.0138	0.0029	0.0030	0.0031	0.0028	0.0108	0.0027	0.0026	0.0085	0.0076	0.0008	0.0055	0.0021	0.0038	0	0.0005	0.0137	0.0044	0.0024	0.0108	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.036421	0.24525	U	0.316936	1	0.08975	N	3.755	0.95055	H	-4.34	0.97267	D	-5.28	0.88839	D	0.526	0.55540	0.437	0.89649	D	0.876	0.95898	D	10	0.005805701	0.00130	T	.	.	.	0.346	0.66769	.	.	0.542187413537	0.53871	0.7430607826194562	0.74252	0.220839230322	0.24634	0.446682691574	0.31490	T	0.428567	0.77766	T	-0.13998	0.29893	T	0.0253141	0.71974	D	0.119659566035645	0.14397	T	0.911709	0.68863	D	0.23202594	0.45984	0.27280214	0.53194	0.23202594	0.45984	0.27280214	0.53193	-14.393	0.94264	D	.	.	0.622	0.69767	P	.;.;.;.	.;.;.;.	3.131093	0.42311	21.5	0.97493538681267755	0.34256	0.34168	0.25003	N	AEFDBCI	0.268574	0.38504	N	-0.0686690424743155	0.38772	2.276047	-0.331987048678435	0.27071	1.499678	0.998000120437217	0.36301	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	2.18	1.15	0.19876	2.134000	0.41725	.	.	0.584000	0.30380	0.017000	0.19353	1.000000	0.68203	0.001000	0.02609	0.8435:0.0:0.1565:0.0	5.460	0.15909	976	0.04745	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2590.98	34	chr19	15934266	.	A	T	2590.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.587e+00;DP=928;ExcessHet=0.0000;FS=0.488;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=1.39;SOR=0.745	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1387	20	0	1	0
chr19	16501519	16501519	G	A	exonic	C19orf44	.	nonsynonymous SNV	C19orf44:NM_001288834:exon2:c.G727A:p.V243I	.	.	479	1041	1	1	0	3	0.00143885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.994	D	0.669	P	0.248	N	1.000	N	1.935	M	.	.	-1.010	T	0.139	T	0.059	1.689	11.61	3.19	2.360	0.729	8.968	0.146	0.00466426299751	.	0.000199681	3.368e-05	0.0001	8.709e-05	0	0	3.056e-05	0	0	3.23e-05	5	154602	rs188780108	2.302e-05	2.189e-05	1.503e-05	3.136e-05	0.0004	1.633e-05	1.417e-05	6.881e-05	2.877e-05	7.318e-05	8.288e-05	0	0	2.093e-05	0.0004	1.649e-05	9.509e-05	1.681e-05	3.293e-05	3.284e-05	6.442e-05	0	4.414e-05	1.263e-05	7.99e-06	1.172e-05	6.25e-06	2.415e-05	0	0	0	0	9.568e-05	0	4.414e-05	0	0	0.044	0.41096	D	0.305	0.20551	T	0.994	0.66517	D	0.669	0.53077	P	0.247704	0.15576	N	0.475580	1	0.19486	N	1.435	0.35949	L	.	.	.	-0.48	0.15379	N	0.023	0.03726	-1.0101	0.26886	T	0.139	0.45734	T	9	0.09088123	0.15871	T	0.004664	0.11566	T	0.146	0.38789	.	.	0.0806252709748	0.07271	0.06933652505517159	0.06871	0.310238895181	0.33346	.	.	.	0.039365	0.25164	T	-0.416397	0.01804	T	-0.63893	0.09746	T	0.0346549339592457	0.02749	T	0.423358	0.11306	T	0.035480227	0.04184	0.036461588	0.03098	0.035480227	0.04184	0.036461588	0.03098	-3.492	0.16320	T	.	.	0.077	0.06710	B	.;.	.;.	0.642386	0.10110	6.855	0.98234808365413351	0.39423	0.12995	0.17602	N	AEFBI	0.032473	0.03677	N	-0.161995612911454	0.34726	1.985652	-0.334454549210748	0.26994	1.494833	0.0363739065528694	0.14242	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	4.34	3.19	0.35720	0.588000	0.23626	0.458000	0.18589	-0.734000	0.03706	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.7016:0.2984	8.968	0.35051	794	0.45591	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	830.98	34	chr19	16501519	.	G	A	830.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.280;DP=913;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.34;ReadPosRankSum=0.679;SOR=0.779	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1052	20	0	1	0
chr19	16736665	16736665	T	C	exonic	NWD1	.	nonsynonymous SNV	NWD1:NM_001007525:exon4:c.T113C:p.I38T,	.	.	423	1071	27	1	0	29	0.0133579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.0	B	0.001	B	0.433	N	1.000	N	-1.52	N	2.1	T	-0.982	T	0.009	T	0.024	-1.308	0.036	-2.14	0.097	-0.047	5.798	0.020	.	.	0.00658946	0.0144	0.0017	0	0	0.0188	0.0108	0.0109	0.0172	0.0030013	464	154602	rs117353506	0.0103	0.0098	0.0101	0.0106	0.0166	0.0102	0.0101	0.0158	0.0155	0.0016	0.0033	0.0147	0.0008	0.0178	0.0104	0.0104	0.0090	0.0166	0.0078	0.0078	0.0077	0.0080	0.0155	0.0075	0.0073	0.0127	0.0117	0.0017	0	0.0039	0.0118	0	0.0175	0.0068	0.0110	0.0028	0.0155	0.579	0.06779	T	0.616	0.07543	T	0.0	0.02946	B	0.001	0.04355	B	0.433353	0.04717	N	1.357460	1	0.08975	N	-1.445	0.00556	N	2.1	0.19990	T	1.27	0.00985	N	0.031	0.01658	-0.9820	0.34538	T	0.009	0.03448	T	10	0.0031747222	0.00053	T	.	.	.	0.020	0.03691	.	.	.	.	0.11415311732290649	0.11343	0.182636527527	0.20529	0.348507583141	0.17702	T	4.5E-4	0.00158	T	-0.776052	0.00012	T	-0.873896	0.00706	T	3.4540116757853e-05	0.00000	T	0.212579	0.02598	T	0.02336708	0.01070	0.0443684	0.05732	0.02336708	0.01070	0.0443684	0.05732	-1.137	0.01165	T	.	.	0.046	0.00080	B	.;.;.;.	.;.;.;.	-0.012211	0.04199	1.022	0.37945950114817406	0.02530	0.00191	0.01107	N	AEFGBI	0.014931	0.00259	N	-1.47867275774287	0.02001	0.08791167	-1.408386698553	0.03168	0.1472257	0.00454810159913068	0.10609	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.6	-2.14	0.06725	-0.053000	0.11802	-0.037000	0.12718	-1.433000	0.01113	0.000000	0.06391	0.000000	0.08366	0.231000	0.22761	0.0:0.3142:0.4857:0.2001	5.798	0.17660	824	0.40336	.;.;.;.	.	.	.	.	rs117353506	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2373.98	34	chr19	16736665	.	T	C	2373.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.675e+00;DP=953;ExcessHet=0.0000;FS=3.658;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.10;ReadPosRankSum=1.10;SOR=0.933	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1278	20	0	1	0
chr19	16745081	16745081	G	C	exonic	NWD1	.	nonsynonymous SNV	NWD1:NM_001290355:exon6:c.G25C:p.G9R,	.	.	427	1074	19	2	0	23	0.0105942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.992	D	0.486	P	.	.	1.000	N	.	.	0.47	T	-0.997	T	0.126	T	0.139	-0.793	0.696	0.207	0.284	0.364	.	0.087	.	.	0.00319489	0.0154	0	0.0139	0	0	0.0140	0.0222	0.0166	0.0018305	283	154602	rs148288566	0.0089	0.0071	0.0081	0.0094	0.0138	0.0086	0.0085	0.0130	0.0127	0.0005	0.0027	0.0146	0	0.0107	0.0135	0.0086	0.0084	0.0138	0.0060	0.0060	0.0056	0.0064	0.0108	0.0057	0.0055	0.0084	0.0076	0.0009	0	0.0024	0.0130	0	0.0146	0	0.0084	0.0061	0.0108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	265.15	21	chr19	16745081	.	G	C	265.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.665e+00;DP=428;ExcessHet=0.0000;FS=3.981;InbreedingCoeff=-0.0312;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=1.74;SOR=0.215	GT:AD:DP:GQ:PL	0/0:24,0:24:69:0,69,1035	20	0	1	0
chr19	16750057	16750057	C	T	exonic	NWD1	.	nonsynonymous SNV	NWD1:NM_001347994:exon5:c.C797T:p.A266V	.	.	425	1082	15	0	0	15	0.00688389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.189	B	0.113	B	0.396	N	1.000	N	-0.11	N	-1.41	T	-0.894	T	0.232	T	0.091	-0.797	0.685	0.037	-0.247	-0.055	5.024	0.140	.	0.0002	0.00279553	0.0019	0	0.0007	0	0	0.0006	0.0022	0.0110	0.0016623	257	154602	rs200735264	0.0010	0.0010	0.0007	0.0013	0.0104	0.0009	0.0009	0.0099	0.0096	8.961e-05	0.0006	0.0041	0	0	0.0036	0.0003	0.0013	0.0104	0.0009	0.0009	0.0005	0.0012	0.0104	0.0007	0.0007	0.0081	0.0073	4.81e-05	0	0.0027	0.0046	0	0	0	0.0003	0.0014	0.0104	0.289	0.16793	T	0.062	0.46406	T	0.157	0.28234	B	0.069	0.28749	B	0.396274	0.04507	N	1.428110	1	0.08975	N	0	0.06538	N	-1.41	0.80560	T	-0.29	0.11728	N	0.047	0.03956	-0.8941	0.48567	T	0.232	0.59782	T	10	0.005074203	0.00110	T	.	.	.	0.140	0.37593	.	.	0.0716867268079	0.06686	0.18970174225344194	0.18888	0.142973379505	0.16129	0.207778096199	0.00721	T	0.007067	0.06489	T	-0.516934	0.00458	T	-0.507498	0.21572	T	0.0128055767576513	0.00218	T	0.432757	0.11777	T	0.018611051	0.00383	0.031628143	0.01780	0.018611051	0.00383	0.031628143	0.01780	-4.872	0.35419	T	.	.	0.073	0.04681	B	.;.;.;.	.;.;.;.	-0.197591	0.03103	0.491	0.67345335733443468	0.08327	0.01930	0.05886	N	AEFDBI	0.028339	0.02477	N	-1.10982298745324	0.06468	0.297813	-1.12986282513968	0.07135	0.3459121	1.32552750386162E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.64	0.037	0.13512	0.333000	0.19512	-0.949000	0.06820	-0.983000	0.01888	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5571:0.1715:0.2713:0.0	5.024	0.13716	906	0.23090	.;NACHT nucleoside triphosphatase;.;NACHT nucleoside triphosphatase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	6077.68	41	chr19	16750057	.	C	T	6077.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.724e+00;DP=1249;ExcessHet=0.3300;FS=0.532;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=-4.080e-01;SOR=0.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:50,0:50:99:.:.:0,108,1620	18	0	3	0
chr19	16750330	16750330	C	T	exonic	NWD1	.	nonsynonymous SNV	NWD1:NM_001347994:exon5:c.C1070T:p.T357M	.	.	435	1050	35	2	0	39	0.0182328	.	.	2811785	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.22	T	0.181	B	0.014	B	0.241	N	1.000	N	-0.6	N	0.53	T	-1.075	T	0.037	T	0.141	-1.414	0.022	2.48	0.901	0.932	4.816	0.029	.	0.0052	0.00319489	0.0069	0.0009	0.0018	0	0.0024	0.0092	0.0059	0.0102	0.0065135	1007	154602	rs141300843	0.0064	0.0064	0.0062	0.0065	0.0188	0.0062	0.0062	0.0159	0.0148	0.0017	0.0028	0.0183	5.038e-05	0.0021	0.0188	0.0066	0.0065	0.0084	0.0044	0.0044	0.0046	0.0043	0.0077	0.0042	0.0040	0.0065	0.0063	0.0008	0	0.0018	0.0153	0	0.0024	0.0170	0.0070	0.0071	0.0077	0.158	0.23905	T	0.526	0.10245	T	0.082	0.24665	B	0.014	0.16862	B	0.241064	0.15710	N	0.640286	1	0.08975	N	-0.485	0.02676	N	0.47	0.56114	T	0.43	0.03297	N	0.066	0.06990	-1.0755	0.08246	T	0.037	0.15770	T	10	0.0032134652	0.00055	T	.	.	.	0.029	0.06676	.	.	0.0611884634855	0.05136	0.23055863881366614	0.22970	0.152614297505	0.17216	0.302149355412	0.10722	T	5.85E-4	0.00238	T	-0.551344	0.00286	T	-0.557921	0.16572	T	0.00625591657394117	0.00069	T	0.715328	0.32778	T	0.018980328	0.00422	0.03925748	0.03978	0.018980328	0.00422	0.03925748	0.03978	-2.588	0.07153	T	.	.	0.074	0.07745	B	.;.;.;.	.;.;.;.	0.796979	0.11677	8.258	0.07088336291344946	0.00035	0.00419	0.02071	N	AEFBI	0.024551	0.01538	N	-0.965319545037062	0.09351	0.4422479	-0.917865094440947	0.11672	0.5961045	2.7198815757485E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.04	2.48	0.29194	2.174000	0.42109	1.637000	0.27771	0.589000	0.31548	0.210000	0.24424	0.011000	0.20116	0.075000	0.16954	0.0:0.4509:0.0:0.549	4.816	0.12731	906	0.23090	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	2048.66	41	chr19	16750330	.	C	T	2048.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.531;DP=840;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=20.49;ReadPosRankSum=-7.100e-01;SOR=0.754	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,108,1620	19	1	1	0
chr19	16789119	16789119	G	A	exonic	NWD1	.	nonsynonymous SNV	NWD1:NM_001347994:exon12:c.G2251A:p.A751T	.	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.001	B	0.310	N	1.000	N	-0.695	N	3.5	T	-1.014	T	0.053	T	0.062	-0.625	1.227	-6.55	-1.439	-0.102	9.766	0.020	0.0046974923951	7.7e-05	.	0.0003	9.614e-05	8.648e-05	0.0022	0	0.0001	0	0.0001	0.0002264	35	154602	rs145720941	0.0002	0.0002	0.0002	0.0002	0.0008	0.0001	0.0001	0.0005	0.0005	0.0003	0.0001	0.0001	0.0008	1.872e-05	0.0002	0.0001	0.0002	6.957e-05	0.0001	0.0001	0.0001	8.061e-05	0.0004	7.089e-05	5.745e-05	6.835e-05	4.289e-05	0.0001	0	0	0.0003	0.0004	0	0	0.0001	0	0	0.735	0.05517	T	0.605	0.07816	T	0.0	0.02946	B	0.001	0.04355	B	0.310209	0.04010	N	1.427560	1	0.08975	N	-1.555	0.00461	N	0.36	0.57880	T	1.27	0.00985	N	0.042	0.03613	-1.0139	0.25688	T	0.053	0.22578	T	10	0.0072591007	0.00165	T	0.004697	0.11691	T	0.020	0.03691	.	.	0.0401082797425	0.02173	0.08236045335677641	0.08171	0.138311207975	0.15596	0.234597116709	0.02325	T	2.43E-4	0.00052	T	-0.640263	0.00083	T	-0.699734	0.05840	T	0.010304745778817	0.00140	T	0.262774	0.04781	T	0.019248711	0.00452	0.044793397	0.05882	0.019248711	0.00451	0.044793397	0.05882	-3.643	0.20044	T	.	.	0.062	0.02173	B	.;.;.;.	.;.;.;.	0.009541	0.04347	1.111	0.19046870071818095	0.00626	0.00804	0.03270	N	AEFBCI	0.016710	0.00393	N	-1.67866390103564	0.00920	0.03984284	-1.69740859665427	0.01149	0.05167686	0.957041932069207	0.28281	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.35	-6.55	0.01686	-0.120000	0.10633	-0.147000	0.11458	-0.100000	0.15956	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.1898:0.5872:0.2229:0.0	9.766	0.39730	906	0.23090	.;WD40-repeat-containing domain;.;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	851.98	41	chr19	16789119	.	G	A	851.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.256e+00;DP=858;ExcessHet=0.0000;FS=1.003;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=-5.650e-01;SOR=0.967	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr19	16797816	16797816	T	C	exonic	NWD1	.	nonsynonymous SNV	NWD1:NM_001347994:exon15:c.T2771C:p.M924T	.	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.0	B	0.001	B	0.884	N	1.000	N	-0.345	N	2.29	T	-1.032	T	0.094	T	0.059	-3.006	0.001	-4.2	-0.961	-1.489	6.891	0.008	0.00725000561524	.	0.000599042	0.0006	0.0003	0.0004	0	0	1.499e-05	0	0.0041	0.0005304	82	154602	rs553266612	0.0003	0.0003	0.0002	0.0004	0.0050	0.0003	0.0003	0.0046	0.0044	0	0	0	0	1.872e-05	0.0009	1.619e-05	0.0002	0.0050	0.0001	0.0001	8.997e-05	0.0002	0.0029	9.147e-05	7.703e-05	0.0018	0.0014	2.407e-05	0	0	0	0	0.0002	0	5.882e-05	0	0.0029	0.359	0.26300	T	0.701	0.05727	T	0.0	0.02946	B	0.001	0.04355	B	0.883775	0.07252	N	1.060550	1	0.08975	N	0.3	0.10203	N	-0.07	0.69287	T	-0.94	0.29727	N	0.119	0.14763	-1.0315	0.19970	T	0.094	0.35578	T	10	0.012894243	0.00275	T	0.00725	0.19225	T	0.008	0.00669	.	.	0.0401082797425	0.02173	0.08766706640307438	0.08699	0.165706254404	0.18694	0.212731987238	0.00932	T	0.002247	0.01642	T	-0.62676	0.00100	T	-0.673594	0.07380	T	0.0518579699847396	0.05824	T	0.330567	0.06954	T	0.066297926	0.14250	0.084085986	0.19317	0.066297926	0.14250	0.084085986	0.19316	-1.994	0.03392	T	.	.	0.053	0.00264	B	.;.;.;.	.;.;.;.	-1.547755	0.00268	0.004	0.17296186997595203	0.00498	0.00539	0.02485	N	AEFBI	0.022315	0.01100	N	-1.76025689088475	0.00650	0.02803572	-1.77322890916388	0.00849	0.03792717	0.0191079249523579	0.13129	0.500041	0.20204	0	0.573888	0.26702	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	4.62	-4.2	0.03562	-1.680000	0.02040	-4.869000	0.01949	-1.111000	0.01491	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3061:0.13:0.5639	6.891	0.23409	917	0.20147	.;WD40-repeat-containing domain;.;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1316.98	36	chr19	16797816	.	T	C	1316.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=848;ExcessHet=0.0000;FS=3.148;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.41;ReadPosRankSum=0.00;SOR=0.461	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1173	20	0	1	0
chr19	16878292	16878292	G	A	exonic	SIN3B	.	nonsynonymous SNV	SIN3B:NM_001297597:exon9:c.G1834A:p.V612M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.174	B	0.011	B	0.000	D	0.726	D	-0.625	N	0.94	T	-1.023	T	0.044	T	0.278	1.556	11.16	4.92	2.277	1.840	11.605	0.082	0.00638922974373	.	.	4.013e-05	0	0.0001	0	0	4.829e-05	0	0	1.94e-05	3	154602	rs200083712	1.099e-05	1.163e-05	1.502e-05	6.906e-06	8.981e-05	6.5e-06	5.26e-06	2.38e-05	1.259e-05	8.981e-05	4.528e-05	0	2.532e-05	0	0	7.207e-06	0	2.343e-05	1.314e-05	1.313e-05	1.284e-05	1.344e-05	6.542e-05	2.18e-06	8.2e-07	.	.	0	0	6.542e-05	0	0	0	0	1.47e-05	0	0	0.715	0.05501	T	0.571	0.08839	T	0.174	0.28827	B	0.011	0.15521	B	0.000018	0.62929	D	0.070865	0.725654	0.33664	D	-0.16	0.04340	N	0.94	0.43672	T	0.38	0.03639	N	0.355	0.39659	-1.0228	0.22802	T	0.044	0.18948	T	10	0.1875534	0.34271	T	0.006389	0.16812	T	0.082	0.23913	0.763	0.89133	0.248133497653	0.24425	0.356329551651198	0.35546	0.210139789538	0.23496	0.598882198334	0.52746	T	0.073266	0.34657	T	-0.360912	0.04079	T	-0.507893	0.21532	T	0.101220943033695	0.12491	T	0.889211	0.62412	D	0.046471458	0.07784	0.054855525	0.09515	0.046471458	0.07783	0.054855525	0.09514	-3.649	0.18568	T	.	.	0.116	0.27373	B	.;.;.	.;.;.	2.974195	0.39654	21.0	0.98152400113236371	0.38696	0.82770	0.41953	D	AEFDBI	0.093735	0.18961	N	-0.289358183150987	0.29559	1.640233	-0.0652381599896651	0.36839	2.149003	0.192751674307369	0.18020	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.92	4.92	0.64147	1.908000	0.39537	7.370000	0.58392	0.662000	0.56354	0.977000	0.34929	1.000000	0.68203	0.831000	0.39176	0.0824:0.0:0.9176:0.0	11.605	0.50286	970	0.06235	.;Sin3, C-terminal;Sin3, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2356.98	169	chr19	16878292	.	G	A	2356.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.122e+00;DP=852;ExcessHet=0.0000;FS=5.605;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=0.369;SOR=0.439	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1150	20	0	1	0
chr19	16890340	16890340	G	A	exonic	F2RL3	.	nonsynonymous SNV	F2RL3:NM_003950:exon2:c.G877A:p.V293M,	.	.	.	.	.	.	.	.	.	.	.	3249486	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.909	P	0.24	B	0.669	U	0.998	N	1.62	L	-0.85	T	-0.733	T	0.209	T	0.164	2.460	14.18	-8.3	-0.882	-1.175	5.540	0.299	0.176207602026	.	.	7.509e-05	0	0.0002	0	0	0.0001	0	0	2.59e-05	4	154602	rs762981408	1.869e-05	2.394e-05	2.066e-05	1.67e-05	4.621e-05	1.28e-05	1.097e-05	1.3e-05	1.11e-05	3.009e-05	4.621e-05	0	2.562e-05	2.222e-05	0	1.986e-05	0	0	1.314e-05	1.313e-05	1.284e-05	1.344e-05	6.539e-05	2.18e-06	8.2e-07	.	.	2.411e-05	0	6.539e-05	0	0	0	0	0	0	0	0.046	0.40573	D	0.063	0.45110	T	0.909	0.50183	P	0.24	0.38599	B	0.668696	0.06023	U	1.247070	0.998281	0.22247	N	2.89	0.83701	M	-0.85	0.74371	T	-0.8	0.22078	N	0.105	0.08925	-0.7330	0.58812	T	0.209	0.56798	T	10	0.18352675	0.33684	T	0.176208	0.85205	D	0.299	0.61955	0.617	0.75116	0.482357354261	0.47867	0.21297463901505376	0.21213	0.25505889808	0.28090	0.661059617996	0.61560	T	0.166323	0.51251	T	-0.250111	0.14085	T	-0.416748	0.31450	T	0.174500718712807	0.18881	T	0.536546	0.18022	T	0.084227666	0.19486	0.07604706	0.16805	0.084227666	0.19486	0.07604706	0.16804	-6.383	0.49377	T	.	.	0.117	0.23675	B	.	.	0.419261	0.07901	4.603	0.97121318687476632	0.32456	0.20280	0.20982	N	AEFBHCI	.	.	.	-0.792974820644752	0.13492	0.6650532	-0.956728699824431	0.10767	0.5444228	1.0	0.98316	0.525926	0.21836	0	0.541556	0.11502	0	0.596394	0.31383	0	0.584449	0.35598	0	.	.	4.15	-8.3	0.00881	-1.179000	0.03200	-2.554000	0.03615	-1.346000	0.01198	0.000000	0.06391	0.000000	0.08366	0.145000	0.20128	0.1765:0.4952:0.2334:0.0949	5.540	0.16323	970	0.06235	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1034.98	42	chr19	16890340	.	G	A	1034.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.461;DP=861;ExcessHet=0.0000;FS=1.811;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.47;ReadPosRankSum=0.406;SOR=0.504	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1279	20	0	1	0
chr19	16904240	16904240	A	T	exonic	CPAMD8	.	nonsynonymous SNV	CPAMD8:NM_015692:exon32:c.T4237A:p.F1413I,	Anterior segement dysgenesis 8, Autosomal recessive	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.957	D	0.569	P	0.000	U	1.000	D	3.935	H	.	.	0.008	D	0.406	T	0.754	4.062	20.9	2.72	1.035	7.278	10.981	0.564	0.0186259237595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	0.000422	0.44522	U	0.152420	0.980619	0.39685	D	.	.	.	0.3	0.58755	T	.	.	.	0.855	0.85132	0.008	0.82411	D	0.406	0.75550	T	9	0.8513963	0.84320	D	0.018626	0.40756	T	.	.	.	.	0.620428437143	0.61735	.	.	0.674172896119	0.59628	0.890575528145	0.95333	D	.	.	.	0.160235	0.70223	D	-0.00760983	0.69841	D	0.991162419319153	0.81426	D	0.847115	0.52772	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.061159	0.60272	24.2	0.99028941746150201	0.50764	0.98972	0.89372	D	AEFBI	0.830774	0.74943	D	0.342259090041737	0.58331	4.004806	0.124249663518566	0.45793	2.836162	0.998999831923108	0.38161	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	2.72	2.72	0.31179	7.252000	0.77731	7.233000	0.57878	0.710000	0.85309	1.000000	0.71638	1.000000	0.68203	0.760000	0.36145	1.0:0.0:0.0:0.0	10.981	0.46709	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1032.98	34	chr19	16904240	.	A	T	1032.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.240e-01;DP=790;ExcessHet=0.0000;FS=1.495;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.83;ReadPosRankSum=-1.240e-01;SOR=0.555	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1027	20	0	1	0
chr19	16945643	16945643	C	T	exonic	CPAMD8	.	nonsynonymous SNV	CPAMD8:NM_015692:exon22:c.G2699A:p.R900Q,	Anterior segement dysgenesis 8, Autosomal recessive	.	428	1093	1	0	0	1	0.000457247	.	.	2205276	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.63	T	0.005	B	0.001	B	0.088	U	0.967	N	0	N	.	.	-1.051	T	0.041	T	0.095	-1.101	0.142	-0.481	0.040	1.094	3.934	0.014	0.00297089660236	.	.	4.97e-05	0	0	0	0	5.996e-05	0.0011	6.058e-05	4.53e-05	7	154602	rs749114855	2.942e-05	2.941e-05	2.723e-05	3.163e-05	0.0003	2.216e-05	1.97e-05	6.092e-05	2.521e-05	0	6.708e-05	0	0	0	0.0003	2.698e-05	6.623e-05	4.638e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.412e-05	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	0.68	0.06109	T	.	.	.	.	.	.	0.087751	0.02422	U	2.082430	1	0.08975	N	.	.	.	2.58	0.13434	T	.	.	.	0.139	0.13769	-1.0510	0.14119	T	0.041	0.17742	T	9	0.06308922	0.08166	T	0.002971	0.06339	T	.	.	.	.	0.173771789658	0.16945	.	.	0.164457917776	0.18555	0.266082197428	0.05637	T	.	.	.	-0.478735	0.00752	T	-0.739543	0.03909	T	0.043744008988142	0.04373	T	0.737926	0.35508	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.458779	0.08286	5.031	0.67214954374209224	0.08288	0.08546	0.14460	N	AEFDBI	0.047006	0.07869	N	-1.10343352682407	0.06582	0.3033967	-1.04600442547717	0.08790	0.433947	0.092953805418989	0.16171	0.632932	0.41330	0	0.547309	0.14657	0	0.601832	0.32385	0	0.613276	0.41899	0	.	.	3.49	-0.481	0.11479	1.193000	0.31771	-0.859000	0.07148	-0.249000	0.07183	0.938000	0.32564	0.000000	0.08366	0.031000	0.13245	0.0:0.23:0.2044:0.5656	3.934	0.08794	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1799.98	35	chr19	16945643	.	C	T	1799.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=911;ExcessHet=0.0000;FS=5.942;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=0.284;SOR=0.473	GT:AD:DP:GQ:PL	0/1:78,74:152:99:1814,0,1853	20	0	1	0
chr19	16952051	16952051	-	AGTCCACGAAGAAGGGCTTGAAGGTCTTCAGCAGGG	exonic	CPAMD8	.	nonframeshift insertion	CPAMD8:NM_015692:exon20:c.2425_2426insCCCTGCTGAAGACCTTCAAGCCCTTCTTCGTGGACT:p.D808_F809insSLLKTFKPFFVD,	Anterior segement dysgenesis 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2114.94	34	chr19	16952051	.	A	AAGTCCACGAAGAAGGGCTTGAAGGTCTTCAGCAGGG	2114.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=849;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.14;ReadPosRankSum=-2.324e+00;SOR=0.722	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1195	20	0	1	0
chr19	17058578	17058578	G	A	exonic	HAUS8	.	nonsynonymous SNV	HAUS8:NM_001011699:exon8:c.C613T:p.R205W	.	.	428	1088	6	0	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.861	P	0.602	N	1.000	N	1.39	L	-1.06	T	-0.646	T	0.456	T	0.358	2.630	14.76	0.666	0.008	0.910	5.503	0.207	0.105471619358	7.7e-05	.	0.0004	0	8.654e-05	0	0	9.053e-05	0.0033	0.0026	0.0003493	54	154602	rs376846602	0.0002	0.0002	0.0001	0.0003	0.0025	0.0002	0.0002	0.0023	0.0021	6.073e-05	2.326e-05	0	0.0003	3.748e-05	0.0007	5.406e-05	0.0002	0.0025	0.0001	0.0001	8.992e-05	0.0002	0.0012	8.16e-05	6.718e-05	0.0005	0.0004	2.405e-05	0	6.534e-05	0	0.0004	0	0	0.0001	0	0.0012	0.004	0.65419	D	0.006	0.72224	D	0.999	0.77913	D	0.861	0.61279	P	0.602356	0.05654	N	1.252920	1	0.08975	N	2.175	0.60977	M	-1.06	0.76819	T	-4.3	0.76496	D	0.325	0.36674	-0.6459	0.62891	T	0.456	0.78790	T	10	0.020490438	0.00473	T	0.105472	0.78060	D	0.207	0.49555	.	.	0.631108546269	0.62809	0.33685896144421573	0.33598	0.533401914816	0.50776	0.257281839848	0.04573	T	0.176554	0.52654	T	-0.329331	0.06162	T	-0.251075	0.49712	T	0.119979424492533	0.14429	T	0.80172	0.44963	T	0.116983294	0.27585	0.10972049	0.26447	0.116983294	0.27584	0.10972049	0.26446	-6.693	0.51758	T	.	.	0.144	0.31633	B	.;.;.	.;.;.	3.380284	0.46749	22.3	0.99680808474055937	0.79241	0.14886	0.18636	N	AEFDBI	0.081062	0.16399	N	-0.31722116117719	0.28494	1.572091	-0.544681170248329	0.20947	1.130906	0.387186028944126	0.20013	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.674467	0.66132	0	.	.	4.34	0.666	0.17071	0.751000	0.26013	1.846000	0.29223	0.676000	0.76740	0.002000	0.15269	0.011000	0.20116	0.002000	0.04165	0.0995:0.0:0.5266:0.3739	5.503	0.16131	970	0.06235	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1565.98	36	chr19	17058578	.	G	A	1565.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.97;DP=823;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=1.05;SOR=0.737	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1189	20	0	1	0
chr19	17102390	17102390	A	G	exonic	MYO9B	.	nonsynonymous SNV	MYO9B:NM_001130065:exon2:c.A673G:p.T225A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.95	T	0.0	B	0.008	B	0.121	N	0.880	N	-0.7	N	-2.16	D	-0.815	T	0.231	T	0.032	-0.193	3.060	1.83	0.633	1.356	5.568	0.127	0.0416193277103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	0	6.568e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.121404	0.18997	N	0.440604	0.879713	0.28070	N	-0.965	0.01239	N	-2.16	0.86549	D	1.09	0.01246	N	0.039	0.01274	-0.8150	0.54244	T	0.231	0.59707	T	10	0.05293876	0.05406	T	0.041619	0.60024	D	0.127	0.34888	0.422	0.46529	0.168254554758	0.16434	0.5273786756027093	0.52661	0.716506363215	0.61995	0.441761016846	0.30818	T	0.19453	0.55033	T	-0.177758	0.24070	T	-0.493113	0.23065	T	0.0284197117740509	0.01750	T	0.739226	0.35772	T	.	.	.	.	.	.	.	.	-2.138	0.03750	T	.	.	0.049	0.00125	B	.;.;.;.	.;.;.;.	0.593132	0.09614	6.389	0.48559236615087564	0.04062	0.40174	0.26378	N	AEFBCI	0.053435	0.09629	N	-0.879021417472396	0.11343	0.5468719	-0.642114206809549	0.18416	0.9836849	0.184151291093735	0.17912	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.45	1.83	0.24279	1.722000	0.37665	1.027000	0.23450	-0.137000	0.12594	0.943000	0.32764	0.332000	0.24378	0.987000	0.62547	0.558:0.0:0.442:0.0	5.568	0.16466	964	0.07719	.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class IX myosin, motor domain;.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class IX myosin, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1759.98	34	chr19	17102390	.	A	G	1759.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.699;DP=882;ExcessHet=0.0000;FS=3.729;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.86;ReadPosRankSum=-1.441e+00;SOR=0.450	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr19	17211769	17211769	C	T	exonic	MYO9B	.	nonsynonymous SNV	MYO9B:NM_001130065:exon39:c.C6053T:p.S2018L	.	.	367	1108	46	1	0	48	0.0212014	.	.	704845	MYO9B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.13	T	0.271	B	0.034	B	0.412	N	1.000	N	0.69	N	-1.96	D	-0.771	T	0.282	T	0.041	1.778	11.90	0.090	-0.107	2.935	5.497	0.190	.	0.0050	0.00319489	0.0060	0.0005	0.0026	0	0.0085	0.0070	0.0070	0.0097	0.0055627	860	154602	rs199695802	0.0056	0.0056	0.0054	0.0059	0.0210	0.0055	0.0055	0.0180	0.0168	0.0008	0.0030	0.0151	2.519e-05	0.0091	0.0210	0.0051	0.0073	0.0104	0.0044	0.0044	0.0042	0.0047	0.0104	0.0042	0.0041	0.0081	0.0073	0.0011	0	0.0043	0.0141	0	0.0082	0.0102	0.0053	0.0057	0.0104	0.076	0.34269	T	0.025	0.56192	D	.	.	.	.	.	.	0.412285	0.04598	N	1.514930	1	0.08975	N	1.78	0.46185	L	-1.96	0.85091	D	-2.12	0.48184	N	0.183	0.22998	-0.7710	0.56803	T	0.282	0.65399	T	10	0.0070744455	0.00161	T	.	.	.	0.190	0.46781	.	.	0.479185464739	0.47547	0.39954179086188857	0.39869	0.291571434391	0.31565	0.432612478733	0.29566	T	0.022428	0.18153	T	-0.478053	0.00759	T	-0.451505	0.27530	T	0.0266004429926373	0.01488	T	0.727427	0.39899	T	.	.	.	.	.	.	.	.	-3.639	0.18422	T	.	.	0.062	0.08224	B	.;.;.;.;.;.	.;.;.;.;.;.	1.720961	0.21908	15.40	0.98264130253596449	0.39694	0.46924	0.27868	N	AEFBI	0.280645	0.39441	N	-0.973295880863492	0.09177	0.433247	-0.968848972364462	0.10489	0.5286096	0.0025240548006917	0.09503	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.93	0.090	0.13772	2.996000	0.49137	-0.581000	0.08376	-0.781000	0.03322	0.027000	0.20232	0.000000	0.08366	0.856000	0.40543	0.0:0.6136:0.1429:0.2435	5.497	0.16099	917	0.20147	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	2336.68	33	chr19	17211769	.	C	T	2336.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.790;DP=870;ExcessHet=0.3300;FS=1.673;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.67;ReadPosRankSum=-1.148e+00;SOR=0.826	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	3	0
chr19	17283908	17283908	C	A	exonic	ANKLE1	.	nonsynonymous SNV	ANKLE1:NM_152363:exon5:c.C1144A:p.P382T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.913	P	0.69	P	0.437	U	1.000	N	1.67	L	.	.	-1.036	T	0.099	T	0.183	0.738	7.917	1.48	0.427	0.015	4.369	0.047	0.0324827210611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.638	0.05031	T	0.354	0.17268	T	.	.	.	.	.	.	0.437313	0.12671	U	0.520533	1	0.20447	N	.	.	.	-0.64	0.72125	T	-4.05	0.74504	D	0.048	0.01999	-1.0363	0.18450	T	0.099	0.36907	T	9	0.10754028	0.19981	T	0.032483	0.54300	D	.	.	.	.	0.312608672186	0.30878	0.20893442406903606	0.20809	0.315621089703	0.33839	0.27325540781	0.06570	T	.	.	.	-0.145844	0.28963	T	-0.447271	0.27997	T	0.468741059303284	0.31485	T	0.613939	0.23413	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.19598	B	.	.	0.779402	0.11495	8.096	0.53650612982435553	0.04981	0.03478	0.08638	N	AEFGBI	0.054636	0.09951	N	-0.475854835320989	0.22873	1.22443	-0.649399951851527	0.18232	0.9730503	0.936390550547592	0.27253	0.695654	0.57023	0	0.546412	0.12157	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.03	1.48	0.21900	-0.099000	0.10976	-0.182000	0.11122	-0.305000	0.06155	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5989:0.1843:0.2167	4.369	0.10673	851	0.35303	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2140.98	85	chr19	17283908	.	C	A	2140.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.790e-01;DP=2250;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=0.491;SOR=0.679	GT:AD:DP:GQ:PL	0/0:95,0:95:99:0,120,1800	20	0	1	0
chr19	17286651	17286651	-	GT	exonic	ANKLE1	.	frameshift insertion	ANKLE1:NM_001278444:exon8:c.1730_1731insGT:p.L591Vfs*19,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	406.05	34	chr19	17286647	.	GGTGT	GGTGTGT,G	406.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.852;DP=999;ExcessHet=0.1072;FS=1.025;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=6.25;ReadPosRankSum=0.956;SOR=0.937	GT:AD:DP:GQ:PL	0/0:33,0,0:33:99:0,99,1284,99,1284,1284	19	0	1	0
chr19	17286678	17286692	GTGTGTGTGTGTGTT	0	exonic	ANKLE1	.	.	.	.	.	559	741	214	4	4	226	0.130282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	4004.43	34	chr19	17286678	.	GTGTGTGTGTGTGTT	*,G	4004.43	.	AC=1,8;AF=0.025,0.200;AN=40;BaseQRankSum=0.870;DP=1077;ExcessHet=0.9430;FS=6.169;InbreedingCoeff=-0.0269;MLEAC=1,8;MLEAF=0.025,0.200;MQ=59.96;MQRankSum=0.00;QD=11.34;ReadPosRankSum=1.98;SOR=0.455	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0,0:46:99:.:.:0,108,1620,108,1620,1620	12	0	0	1
chr19	17286684	17286684	G	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	4780.38	36	chr19	17286684	.	G	T,*	4780.38	.	AC=7,9;AF=0.175,0.225;AN=40;BaseQRankSum=-8.400e-01;DP=1119;ExcessHet=4.5793;FS=8.883;InbreedingCoeff=-0.2478;MLEAC=7,9;MLEAF=0.175,0.225;MQ=59.96;MQRankSum=0.00;QD=8.55;ReadPosRankSum=0.894;SOR=0.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,33,0:52:99:0|1:17286674_G_T:1070,0,696,1127,793,1920:17286674	6	0	6	1
chr19	17286686	17286692	GTGTGTT	0	exonic	ANKLE1	.	.	.	.	.	513	567	132	0	310	442	0.104265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1476.26	36	chr19	17286686	.	GTGTGTT	*,G,TTGTGTT	1476.26	.	AC=9,2,4;AF=0.214,0.048,0.095;AN=42;BaseQRankSum=0.195;DP=1111;ExcessHet=3.1640;FS=2.719;InbreedingCoeff=-0.1486;MLEAC=9,2,4;MLEAF=0.214,0.048,0.095;MQ=60.00;MQRankSum=0.00;QD=2.88;ReadPosRankSum=0.928;SOR=0.500	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:48,0,0,0:48:99:.:.:0,109,1517,109,1517,1517,109,1517,1517,1517	8	1	7	0
chr19	17286688	17286692	GTGTT	0	exonic	ANKLE1	.	.	.	.	.	525	471	333	8	185	534	0.270333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	4769.66	36	chr19	17286688	.	GTGTT	*,G,TTGTT	4769.66	.	AC=11,10,1;AF=0.262,0.238,0.024;AN=42;BaseQRankSum=0.035;DP=1122;ExcessHet=8.0185;FS=14.083;InbreedingCoeff=-0.3339;MLEAC=11,10,1;MLEAF=0.262,0.238,0.024;MQ=60.00;MQRankSum=0.00;QD=7.34;ReadPosRankSum=0.733;SOR=0.210	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:16,0,31,0:47:99:.:.:1002,1051,1613,0,562,471,1051,1613,562,1613	3	1	6	0
chr19	17286690	17286692	GTT	0	exonic	ANKLE1	.	.	.	.	.	521	443	240	2	316	560	0.215929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	2703.98	18	chr19	17286690	.	GTT	*,G	2703.98	.	AC=19,8;AF=0.452,0.190;AN=42;BaseQRankSum=-1.400e-01;DP=1116;ExcessHet=3.1640;FS=12.346;InbreedingCoeff=-0.0816;MLEAC=19,7;MLEAF=0.452,0.167;MQ=59.97;MQRankSum=0.00;QD=4.53;ReadPosRankSum=0.510;SOR=0.209	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:8,31,4:43:99:.:.:1024,0,364,942,107,1156	2	3	9	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	2556.62	16	chr19	17286692	.	T	*,G	2556.62	.	AC=29,9;AF=0.690,0.214;AN=42;BaseQRankSum=-3.190e-01;DP=1109;ExcessHet=0.6776;FS=2.075;InbreedingCoeff=-0.1052;MLEAC=29,9;MLEAF=0.690,0.214;MQ=59.98;MQRankSum=0.00;QD=3.57;ReadPosRankSum=1.19;SOR=0.451	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,34,8:42:88:.:.:1821,225,88,1241,0,1197	0	10	3	0
chr19	17301327	17301327	C	T	exonic	ABHD8	.	nonsynonymous SNV	ABHD8:NM_024527:exon2:c.G290A:p.R97Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.178	B	0.004	B	0.015	N	0.502	N	0	N	1.54	T	-1.038	T	0.027	T	0.125	2.495	14.30	2.93	1.202	3.335	5.145	0.039	0.0160837913239	.	.	.	.	.	.	.	.	.	.	.	.	.	rs755787357	2.748e-06	2.736e-06	4.102e-06	1.381e-06	2.698e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	1.658e-05	0	6.569e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.584	0.05918	T	0.353	0.17320	T	0.178	0.28960	B	0.004	0.10090	B	0.014656	0.28470	N	0.338596	0.50231	0.31715	N	1.39	0.34934	L	1.54	0.30133	T	0.29	0.04161	N	0.057	0.02861	-1.0381	0.17893	T	0.027	0.11441	T	10	0.099657595	0.18098	T	0.016084	0.37157	T	0.039	0.10176	0.3	0.26683	0.151262610727	0.14761	0.32960333389032576	0.32873	0.895922734505	0.70456	0.771524071693	0.77652	T	0.011515	0.10265	T	-0.369731	0.03607	T	-0.596411	0.13115	T	0.233774500739766	0.22130	T	0.788921	0.42853	T	0.07203549	0.15993	0.03986828	0.04180	0.07203549	0.15993	0.03986828	0.04180	-4.128	0.25701	T	.	.	0.074	0.30211	B	.;.;.	.;.;.	3.187982	0.43297	21.7	0.99699571404694676	0.80522	0.40321	0.26411	N	AEFBI	0.064405	0.12505	N	-0.394201769013698	0.25674	1.395513	-0.203128643743349	0.31423	1.778245	0.998098936841708	0.36419	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.528226	0.09195	0	.	.	5.24	2.93	0.33092	3.347000	0.51915	1.655000	0.27867	0.469000	0.21855	0.998000	0.41325	0.918000	0.28264	0.979000	0.57723	0.0:0.4467:0.4228:0.1305	5.145	0.14309	789	0.46346	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1284.98	33	chr19	17301327	.	C	T	1284.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.400e-01;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.17;ReadPosRankSum=-2.890e-01;SOR=0.734	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,985	20	0	1	0
chr19	17301511	17301511	C	T	exonic	ABHD8	.	nonsynonymous SNV	ABHD8:NM_024527:exon2:c.G106A:p.V36I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.243	B	0.097	B	0.000	D	0.932	D	0.895	L	1.21	T	-1.044	T	0.067	T	0.178	3.134	16.47	5.24	2.456	1.452	12.094	0.038	0.012002826869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.853e-07	1.368e-06	1.364e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.41637	D	0.152	0.41074	T	0.243	0.30970	B	0.097	0.30390	B	0.000153	0.49130	D	0.136542	0.931935	0.37005	D	2.125	0.59049	M	1.21	0.37230	T	-0.07	0.08033	N	0.266	0.30118	-1.0441	0.16089	T	0.067	0.27399	T	10	0.17251524	0.32029	T	0.012003	0.30173	T	0.038	0.09825	0.205	0.12076	0.043077524339	0.03247	0.37210292206754014	0.37124	0.801550311502	0.66277	0.764395534992	0.76584	T	0.025579	0.19097	T	-0.167046	0.25681	T	-0.477726	0.24689	T	0.523666322231293	0.33500	D	0.872813	0.58002	D	0.096961536	0.22848	0.06732709	0.13913	0.096961536	0.22847	0.06732709	0.13913	-4.433	0.30001	T	.	.	0.093	0.52351	B	.;.;.	.;.;.	3.278169	0.44906	22.0	0.99764565443977093	0.85335	0.92541	0.55954	D	AEFBI	0.289607	0.40121	N	-0.0617100502342355	0.39081	2.299004	0.10365698285848	0.44734	2.749563	0.999973089649347	0.50053	0.651	0.46895	0	0.643519	0.57511	0	0.606735	0.37207	0	0.683762	0.67416	0	.	.	5.24	5.24	0.72863	1.496000	0.35246	7.584000	0.61047	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.8263:0.1737:0.0	12.094	0.53044	789	0.46346	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	890.98	33	chr19	17301511	.	C	T	890.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.517e+00;DP=818;ExcessHet=0.0000;FS=3.057;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=0.075;SOR=0.500	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,985	20	0	1	0
chr19	17328373	17328373	C	T	exonic	ANO8	.	nonsynonymous SNV	ANO8:NM_020959:exon13:c.G2015A:p.R672Q,	.	.	397	1118	7	0	0	7	0.00312082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.076	B	0.016	B	0.163	N	1.000	N	2.125	M	0.13	T	-0.986	T	0.140	T	0.16	2.060	12.85	1.21	0.054	.	4.963	0.038	.	0.0023	0.00139776	0.0059	0.0004	0.0012	0	0.0070	0.0103	0	0.0016	0.0022962	355	154602	rs200489783	0.0028	0.0028	0.0028	0.0028	0.0026	0.0027	0.0027	0.0025	0.0024	0.0003	0.0006	0.0229	0	0.0042	0.0023	0.0026	0.0037	0.0014	0.0026	0.0026	0.0026	0.0025	0.0033	0.0024	0.0023	0.0030	0.0028	0.0005	0	0.0015	0.0210	0	0.0038	0	0.0033	0.0014	0.0019	0.397	0.10588	T	0.301	0.20293	T	0.076	0.24253	B	0.016	0.17743	B	0.163433	0.17591	N	0.549745	1	0.08975	N	1.825	0.47900	L	0.13	0.60973	T	-0.5	0.15782	N	0.041	0.01421	-0.9855	0.33711	T	0.140	0.45979	T	10	0.0027075708	0.00042	T	.	.	.	0.038	0.09825	.	.	0.0934897674506	0.08844	0.3793333761704312	0.37848	.	.	0.456459462643	0.32826	T	0.083012	0.36958	T	-0.503483	0.00547	T	-0.498101	0.22544	T	0.0182035542461462	0.00541	T	0.609739	0.23084	T	0.013590228	0.00064	0.018941512	0.00071	0.013590228	0.00063	0.018941512	0.00071	-4.12	0.25584	T	.	.	0.068	0.02829	B	.	.	0.830534	0.12021	8.576	0.99417952410221744	0.63597	0.11717	0.16816	N	AEFDBHCI	0.058212	0.10907	N	-0.852139389896749	0.11997	0.5821769	-0.88243840779874	0.12509	0.6439254	0.999998976569294	0.74766	0.733237	0.96898	0	0.609123	0.50646	0	0.600757	0.32118	0	0.56751	0.32155	0	.	.	4.87	1.21	0.20240	-0.950000	0.03999	-0.098000	0.11976	-0.319000	0.05888	0.000000	0.06391	0.000000	0.08366	0.217000	0.22379	0.0:0.4453:0.3502:0.2045	4.963	0.13423	784	0.47045	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	580.98	41	chr19	17328373	.	C	T	580.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.88;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=0.161;SOR=0.830	GT:AD:DP:GQ:PL	0/0:31,0:31:87:0,87,1305	20	0	1	0
chr19	17455656	17455656	C	-	exonic	NXNL1	.	frameshift deletion	NXNL1:NM_138454:exon2:c.630delG:p.L211Cfs*53,	.	.	600	920	2	0	0	2	0.00108578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0051	0	0.0096	0	0	0	0.0125	0.0073	3.84e-05	1	26028	rs748149169	0.0006	0.0006	0.0004	0.0009	0.0066	0.0006	0.0006	0.0043	0.0041	4.838e-05	6.316e-05	9.912e-05	0	0	0.0066	0.0003	0.0005	0.0047	0.0003	0.0003	0.0001	0.0004	0.0051	0.0002	0.0002	0.0035	0.0030	4.853e-05	0	0.0003	0	0	0	0	0.0002	0.0005	0.0051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	313.94	20	chr19	17455655	.	GC	G	313.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.760e-01;DP=478;ExcessHet=0.0000;FS=1.952;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.44;ReadPosRankSum=1.69;SOR=0.307	GT:AD:DP:GQ:PL	0/0:27,0:27:75:0,75,1125	20	0	1	0
chr19	17517831	17517831	G	A	exonic	PGLS	.	nonsynonymous SNV	PGLS:NM_012088:exon4:c.G620A:p.G207D,	.	.	430	1090	2	0	0	2	0.00091659	.	.	2439109	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.18	T	0.197	B	0.201	B	0.000	D	1.000	D	1.295	L	1.04	T	-1.039	T	0.119	T	0.586	3.179	16.64	5.95	2.819	7.460	17.871	0.149	0.00920641112113	.	0.000199681	0.0002	0	0.0002	0	0	1.501e-05	0	0.0010	0.0001358	21	154602	rs533662223	9.577e-05	9.577e-05	5.581e-05	0.0001	0.0012	8.242e-05	7.783e-05	0.0010	0.0010	0	8.944e-05	0	0	0	0	2.518e-05	1.656e-05	0.0012	3.94e-05	3.937e-05	3.854e-05	4.03e-05	0.0006	1.715e-05	1.129e-05	0.0002	8.996e-05	0	0	6.548e-05	0	0.0002	0	0	1.47e-05	0	0.0006	0.029	0.45756	D	0.009	0.66756	D	0.197	0.29559	B	0.201	0.36881	B	0.000000	0.84330	D	0.093282	1	0.81001	D	1.625	0.41611	L	1.04	0.40218	T	-3.39	0.66896	D	0.549	0.57518	-1.0392	0.17556	T	0.119	0.41799	T	10	0.08671293	0.14765	T	0.009206	0.24201	T	0.149	0.39377	0.375	0.38830	0.606545613963	0.60339	.	.	0.416281362188	0.42269	0.531475365162	0.43243	T	0.225072	0.58969	T	-0.304532	0.08238	T	-0.266564	0.48166	T	0.152674678489608	0.17315	T	0.945705	0.79334	D	0.5220857	0.68379	0.5546706	0.74244	0.5220857	0.68380	0.5546706	0.74245	-8.713	0.65830	D	.	.	0.339	0.59617	B	.;.	.;.	3.663615	0.52058	23.2	0.99417208167053417	0.63597	0.94997	0.63064	D	AEFGBCI	0.930710	0.91842	D	0.200682028923202	0.51232	3.30616	0.346872861758329	0.58320	4.001788	0.999999999738548	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	5.95	0.96415	7.775000	0.84243	11.738000	0.95134	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.855000	0.40485	0.0:0.0:1.0:0.0	17.871	0.88726	946	0.12043	Glucosamine/galactosamine-6-phosphate isomerase|6-phosphogluconolactonase, DevB-type|6-phosphogluconolactonase, DevB-type;Glucosamine/galactosamine-6-phosphate isomerase|6-phosphogluconolactonase, DevB-type|6-phosphogluconolactonase, DevB-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1979.98	70	chr19	17517831	.	G	A	1979.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.847e+00;DP=1326;ExcessHet=0.0000;FS=0.549;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.00;ReadPosRankSum=-4.290e-01;SOR=0.613	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,120,1800	20	0	1	0
chr19	17527335	17527335	A	C	exonic	NIBAN3	.	nonsynonymous SNV	NIBAN3:NM_001098524:exon2:c.A88C:p.S30R	.	.	395	1097	30	0	0	30	0.0134892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.001	B	0.002	B	0.712	N	1.000	N	1.61	L	2.03	T	-1.020	T	0.033	T	0.113	2.920	15.73	-3.67	-0.984	-0.012	6.652	0.020	.	8.3e-05	0.00139776	0.0053	0	0	0	0	0.0004	0	0.0128	0.0008215	127	154602	rs200304763	0.0010	0.0010	0.0007	0.0014	0.0108	0.0010	0.0010	0.0102	0.0100	9.506e-05	0.0005	7.965e-05	2.806e-05	4.114e-05	0.0080	0.0004	0.0011	0.0108	0.0007	0.0007	0.0006	0.0007	0.0075	0.0006	0.0005	0.0056	0.0049	4.826e-05	0	0.0007	0	0	0	0.0102	0.0007	0	0.0075	0.0	0.91255	D	0.0	0.92824	D	0.001	0.07471	B	0.002	0.06944	B	0.711885	0.10006	N	0.829479	1	0.18612	N	0.805	0.20218	L	1.96	0.22881	T	-0.72	0.20358	N	0.154	0.20395	-1.0199	0.23747	T	0.033	0.14334	T	10	0.0032359958	0.00055	T	.	.	.	0.020	0.03691	0.128	0.03331	0.0551355673512	0.04727	0.10362123673088532	0.10292	0.297826473025	0.32164	0.396594941616	0.24595	T	0.004484	0.03887	T	-0.615447	0.00117	T	-0.647429	0.09135	T	0.0140267319805013	0.00271	T	0.474053	0.14146	T	0.20258251	0.42308	0.14731982	0.34868	0.20258251	0.42308	0.14731982	0.34867	-3.54	0.17211	T	.	.	0.227	0.45859	B	.;.;.	.;.;.	0.277170	0.06543	3.028	0.98585880563833139	0.43310	0.01256	0.04413	N	AEFDGBHCI	0.085487	0.17329	N	-1.27972693873513	0.03920	0.1760011	-1.39533097773698	0.03301	0.1537287	0.999999724864787	0.74766	0.580535	0.33130	0	0.52208	0.09955	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	3.98	-3.67	0.04187	-0.124000	0.10571	0.068000	0.14222	-0.214000	0.08267	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.3189:0.1624:0.5187:0.0	6.652	0.22157	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	465.98	34	chr19	17527335	.	A	C	465.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=9.000e-03;DP=769;ExcessHet=0.0000;FS=2.337;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.03;ReadPosRankSum=-3.160e-01;SOR=1.158	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1127	20	0	1	0
chr19	17540511	17540511	C	A	exonic	NIBAN3	.	nonsynonymous SNV	NIBAN3:NM_001321828:exon8:c.C370A:p.L124M	.	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.021	N	1.000	N	2.25	M	1.87	T	-0.488	T	0.504	D	0.259	3.356	17.31	-0.269	0.083	0.811	3.087	0.109	0.0615950223037	.	0.00159744	0.0011	0	0	0	0	0	0.0016	0.0075	0.000718	111	154602	rs548734371	0.0003	0.0003	0.0002	0.0005	0.0055	0.0003	0.0003	0.0051	0.0049	0	0	0	2.625e-05	0	0.0004	2.717e-06	0.0004	0.0055	0.0002	0.0002	8.991e-05	0.0002	0.0048	0.0001	8.709e-05	0.0033	0.0028	0	0	0	0	0	0	0	0	0	0.0048	0.064	0.43708	T	0.027	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.021477	0.26827	N	0.175055	1	0.08975	N	2.595	0.75868	M	1.87	0.77466	T	-0.63	0.18459	N	0.276	0.38335	-0.4881	0.69076	T	0.504	0.81320	D	10	0.008756995	0.00198	T	0.061595	0.68382	D	0.109	0.30843	0.428	0.47515	0.455357065977	0.45159	0.42836933077151695	0.42753	0.864492229153	0.69148	0.510096669197	0.40235	T	0.007324	0.19316	T	-0.368757	0.03657	T	-0.30069	0.44653	T	0.117537649127366	0.14187	T	0.79972	0.44511	T	0.0794879	0.18161	0.054658826	0.09443	0.0794879	0.18160	0.054658826	0.09443	-6.086	0.47248	T	.	.	0.224	0.48867	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.395861	0.30777	18.54	0.99192060329917864	0.55024	0.09570	0.15296	N	AEFBI	0.104679	0.20938	N	-0.118576959625587	0.36584	2.116626	-0.371577830243053	0.25848	1.42404	0.00243653181004195	0.09427	0.634777	0.41761	0	0.643519	0.57511	0	0.535252	0.11790	0	0.613276	0.41899	0	.	.	4.45	-0.269	0.12291	0.496000	0.22207	1.363000	0.25896	0.463000	0.21641	0.002000	0.15269	0.787000	0.26830	0.062000	0.16114	0.1914:0.4894:0.0:0.3192	3.087	0.05901	946	0.12043	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	799.98	43	chr19	17540511	.	C	A	799.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.646e+00;DP=764;ExcessHet=0.0000;FS=2.120;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.33;ReadPosRankSum=-3.490e-01;SOR=0.577	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,988	20	0	1	0
chr19	17572539	17572539	C	T	exonic	COLGALT1	.	nonsynonymous SNV	COLGALT1:NM_024656:exon6:c.C886T:p.R296C,	.	.	432	1088	2	0	0	2	0.000918274	.	.	1902836	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.886	P	0.000	D	1.000	D	2.08	M	2.17	T	-0.954	T	0.108	T	0.8	2.757	15.18	2.95	1.202	0.799	13.377	0.237	0.0521924486921	.	.	8.239e-05	0	8.639e-05	0	0	1.499e-05	0.0011	0.0004	7.12e-05	11	154602	rs536730145	8.414e-05	8.414e-05	6.67e-05	0.0001	0.0008	7.203e-05	6.75e-05	0.0007	0.0006	0	8.944e-05	3.826e-05	0	0	0.0002	3.687e-05	4.967e-05	0.0008	1.97e-05	1.968e-05	1.285e-05	2.685e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0.0005	0	0.003	0.68238	D	0.003	0.76473	D	0.999	0.77913	D	0.886	0.62898	P	0.000001	0.84330	D	0.055451	0.999999	0.58761	D	2.77	0.80896	M	2.17	0.19020	T	-4.72	0.79998	D	0.64	0.65245	-0.9543	0.40221	T	0.108	0.39246	T	10	0.6460713	0.69333	D	0.052192	0.64972	D	0.237	0.54074	0.484	0.56621	0.478222008075	0.47454	0.6577253451455024	0.65709	0.956684452452	0.72844	0.567701339722	0.48353	T	0.264757	0.63657	T	-0.208028	0.19657	T	-0.169002	0.57534	T	0.857902824878693	0.50862	D	0.935006	0.75597	D	0.53435355	0.69078	0.25674185	0.51379	0.53435355	0.69079	0.25674185	0.51379	-12.852	0.88744	D	0.4364331420483342	0.52269	0.519	0.65430	A	.	.	3.886640	0.56525	23.7	0.99896720656365123	0.96971	0.92561	0.56001	D	AEFGBCI	0.632376	0.61301	D	0.249309998235418	0.53604	3.528616	0.131236073140784	0.46155	2.866193	0.012015283456391	0.12267	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.741806	0.99463	0	.	.	5.35	2.95	0.33285	0.567000	0.23311	0.839000	0.22025	0.599000	0.40250	0.982000	0.35529	0.999000	0.35428	0.011000	0.09372	0.2953:0.7047:0.0:0.0	13.377	0.60187	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1758.98	37	chr19	17572539	.	C	T	1758.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.730e+00;DP=880;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=-1.720e+00;SOR=0.714	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1195	20	0	1	0
chr19	17581410	17581410	C	T	exonic	COLGALT1	.	nonsynonymous SNV	COLGALT1:NM_024656:exon12:c.C1835T:p.S612F,	.	.	.	.	.	.	.	.	.	.	.	2769952	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.971	D	0.000	D	1.000	D	2.19	M	-1.36	T	0.391	D	0.640	D	0.522	3.853	19.57	4.78	2.194	3.135	15.284	0.402	0.18106454264	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1340240194	2.056e-06	4.104e-06	1.364e-06	2.756e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.02	0.58613	D	0.997	0.70673	D	0.971	0.72444	D	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	2.615	0.76484	M	-1.36	0.80125	T	-2.35	0.51968	N	0.412	0.45237	0.391	0.88957	D	0.640	0.87426	D	10	0.43555665	0.57769	T	0.181065	0.85531	D	0.402	0.71558	0.234	0.16305	0.911445288569	0.91055	0.6455047501393146	0.64485	0.955501152494	0.72796	0.732830286026	0.71920	T	0.253354	0.62387	T	0.106671	0.65005	D	-0.0845511	0.64570	T	0.977590560913086	0.71919	D	0.932007	0.74652	D	0.34728068	0.56855	0.26150948	0.51929	0.34728068	0.56855	0.26150948	0.51928	-5.554	0.42370	T	.	.	0.549	0.66726	A	.	.	4.551511	0.71641	25.7	0.99812540370724034	0.89620	0.97157	0.73025	D	AEFDBI	0.430654	0.49327	N	0.551415210024324	0.70168	5.462121	0.49871697866394	0.67906	5.147041	0.999632080986526	0.41205	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.78	4.78	0.60666	5.291000	0.65468	5.828000	0.50139	0.469000	0.21855	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	15.284	0.73511	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1017.98	39	chr19	17581410	.	C	T	1017.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.707;DP=810;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.54;ReadPosRankSum=0.053;SOR=0.540	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr19	17672466	17672466	G	A	exonic	UNC13A	.	nonsynonymous SNV	UNC13A:NM_001080421:exon4:c.C182T:p.T61M,	.	.	423	1069	30	0	0	30	0.0138376	.	.	2418958	UNC13A-related_disorder|Amyotrophic_lateral_sclerosis	.|Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.15	T	0.883	P	0.278	B	0.000	U	0.906	D	1.04	L	-0.44	T	-0.831	T	0.156	T	0.425	2.183	13.26	2.79	0.485	3.471	7.937	0.330	0.0485386385972	0.0017	0.00259585	0.0041	0.0015	0.0010	0.0001	0.0082	0.0045	0.0045	0.0067	0.0036351	562	154602	rs140141294	0.0028	0.0028	0.0026	0.0030	0.0094	0.0027	0.0027	0.0074	0.0067	0.0013	0.0014	0.0160	2.519e-05	0.0084	0.0094	0.0020	0.0040	0.0068	0.0030	0.0030	0.0026	0.0033	0.0046	0.0027	0.0026	0.0034	0.0031	0.0011	0	0.0042	0.0141	0.0002	0.0086	0.0068	0.0024	0.0057	0.0046	0.137	0.26085	T	0.131	0.34716	T	0.883	0.48537	P	0.278	0.40236	B	0.000000	0.84330	U	0.000000	0.906161	0.36292	D	0.345	0.11182	N	-0.44	0.69777	T	-2.35	0.51968	N	0.388	0.45142	-0.8308	0.53250	T	0.156	0.48790	T	10	0.010660082	0.00236	T	0.048539	0.63416	D	0.330	0.65226	.	.	0.0675242888579	0.06100	0.5694231586329802	0.56870	0.816425672863	0.66954	0.692185282707	0.66020	T	0.219551	0.58259	T	-0.350371	0.04703	T	-0.272474	0.47570	T	0.0236584185594248	0.01103	T	0.882812	0.60417	D	0.07874032	0.17948	0.118671216	0.28645	0.12665673	0.29659	0.13664956	0.32684	-5.841	0.44930	T	.	.	0.090	0.25882	B	.;.;.;.	.;.;.;.	4.072408	0.60521	24.2	0.99592638310331671	0.73690	0.89296	0.49675	D	AEFGHI	0.281173	0.39481	N	-0.149168504236705	0.35269	2.023727	-0.161685071272032	0.32961	1.880509	0.647878330941887	0.22128	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	4.98	2.79	0.31792	3.045000	0.49528	3.667000	0.39425	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.800000	0.37734	0.0911:0.1634:0.7455:0.0	7.937	0.29097	895	0.25842	C2 domain|C2 domain;C2 domain|C2 domain;C2 domain|C2 domain;C2 domain|C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1873.98	34	chr19	17672466	.	G	A	1873.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.146e+00;DP=836;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.88;ReadPosRankSum=1.35;SOR=0.705	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr19	17727938	17727938	A	G	exonic	MAP1S	.	nonsynonymous SNV	MAP1S:NM_001308363:exon5:c.A2476G:p.T826A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.007	B	0.004	B	0.250	N	1.000	N	-0.14	N	2.41	T	-1.012	T	0.018	T	0.05	0.282	5.528	-0.513	-0.107	-0.022	3.069	0.006	0.00562466648117	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1423428240	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.687	0.04340	T	0.869	0.03852	T	0.007	0.14184	B	0.004	0.10090	B	0.249943	0.03640	N	1.638310	1	0.08975	N	0.115	0.08564	N	2.41	0.15492	T	-0.3	0.12661	N	0.077	0.05162	-1.0115	0.26447	T	0.018	0.07329	T	10	0.049282044	0.04496	T	0.005625	0.14530	T	0.006	0.00375	0.253	0.19223	0.138757226776	0.13463	0.12005685619456798	0.11932	0.288792920878	0.31287	0.326857328415	0.14459	T	0.044539	0.26848	T	-0.396636	0.02436	T	-0.807516	0.01722	T	0.0148844715347292	0.00315	T	0.443356	0.12326	T	0.013861992	0.00072	0.018623823	0.00061	0.013861992	0.00072	0.018623823	0.00061	-2.51	0.05983	T	.	.	0.061	0.01092	B	.;.	.;.	0.646833	0.10153	6.896	0.26084419815383331	0.01233	0.14070	0.18206	N	AEFDGBCI	0.149617	0.27374	N	-1.56417805367276	0.01454	0.06342297	-1.53567801563424	0.02076	0.09494394	0.00285125304908809	0.09753	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.67	-0.513	0.11365	-0.012000	0.12637	1.755000	0.28506	-0.875000	0.02511	0.000000	0.06391	0.036000	0.21445	0.003000	0.05239	0.2062:0.3252:0.0:0.4686	3.069	0.05850	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1654.98	41	chr19	17727938	.	A	G	1654.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.570e-01;DP=933;ExcessHet=0.0000;FS=1.394;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.73;ReadPosRankSum=-5.410e-01;SOR=0.565	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1146	20	0	1	0
chr19	17834887	17834887	C	T	exonic	JAK3	.	nonsynonymous SNV	JAK3:NM_000215:exon16:c.G2164A:p.V722I,	SCID, autosomal recessive, T-negative/B-positive type, Autosomal recessive	.	1	1437	82	2	0	86	0.0290541	.	.	138312	not_specified|JAK3-related_disorder|T-B+_severe_combined_immunodeficiency_due_to_JAK3_deficiency|not_provided|Acute_megakaryoblastic_leukemia|Lymphoblastic_leukemia,_acute,_with_lymphomatous_features	MedGen:CN169374|.|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802,Orphanet:35078|MedGen:C3661900|Human_Phenotype_Ontology:HP:0006733,MONDO:MONDO:0018872,MeSH:D007947,MedGen:C0023462,Orphanet:518|MONDO:MONDO:0009539,MedGen:C1855472,OMIM:247640,Orphanet:513	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.03	D	0.001	B	0.004	B	0.243	N	1.000	N	0.46	N	0.06	T	-1.014	T	0.085	T	0.081	0.858	8.473	0.248	-0.126	1.524	7.741	0.156	.	0.0095	0.00359425	0.0086	0.0023	0.0041	0	0.0035	0.0130	0.0077	0.0051	0.0085769	1326	154602	rs3213409	0.0100	0.0100	0.0099	0.0101	0.0229	0.0099	0.0098	0.0197	0.0185	0.0026	0.0057	0.0260	2.519e-05	0.0047	0.0229	0.0109	0.0095	0.0053	0.0075	0.0075	0.0082	0.0068	0.0115	0.0071	0.0070	0.0109	0.0106	0.0018	0	0.0069	0.0262	0	0.0033	0.0068	0.0115	0.0076	0.0064	0.029	0.47320	D	0.067	0.44302	T	0.001	0.07471	B	0.004	0.10090	B	0.243360	0.15664	N	0.618726	1	0.08975	N	0.49	0.13296	N	0.06	0.61798	T	-0.8	0.22294	N	0.032	0.01135	-1.0145	0.25497	T	0.085	0.33241	T	10	0.0028762817	0.00046	T	.	.	.	0.156	0.40720	.	.	0.348454897831	0.34454	0.5311442961215286	0.53038	0.391737070457	0.40370	0.366400837898	0.20314	T	0.405752	0.76185	T	-0.531877	0.00374	T	-0.526393	0.19648	T	0.0164766271593883	0.00412	T	0.564843	0.19943	T	0.048163924	0.08350	0.051704865	0.08375	0.048167907	0.08353	0.05393384	0.09178	-6.642	0.51825	T	0.11864946227562068	0.10969	0.071	0.03849	B	.;.;.	.;.;.	1.612184	0.20598	14.82	0.97845570022248962	0.36358	0.23033	0.21944	N	AEFBCI	0.110569	0.21921	N	-0.961122929809512	0.09444	0.4470025	-0.986255251364803	0.10093	0.5062114	0.696009353993551	0.22642	0.67177	0.52595	0	0.702456	0.74545	0	0.491614	0.08109	1	0.550183	0.17644	0	.	.	4.89	0.248	0.14786	3.042000	0.49504	0.717000	0.20982	0.524000	0.24156	0.175000	0.24000	0.000000	0.08366	0.013000	0.09966	0.0:0.6163:0.0:0.3837	7.741	0.28004	964	0.07719	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	8107.68	182	chr19	17834887	.	C	T	8107.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.40;DP=1241;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=-1.084e+00;SOR=0.689	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1280	18	0	3	0
chr19	17943702	17943702	A	G	exonic	CCDC124	.	nonsynonymous SNV	CCDC124:NM_001136203:exon5:c.A659G:p.N220S	.	.	414	1105	3	0	0	3	0.00135563	.	.	2348453	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.991	D	0.634	P	0.000	D	1.000	D	2.38	M	0.63	T	-0.704	T	0.186	T	0.108	4.176	21.6	3.41	1.801	4.153	9.159	0.200	0.0649133554366	0.0005	0.000399361	0.0002	0.0005	0.0002	0	0	0.0002	0	0.0001	0.0001682	26	154602	rs199727961	0.0002	0.0002	0.0002	0.0002	0.0049	0.0002	0.0002	0.0035	0.0030	0.0002	0.0004	0.0015	0.0001	0	0.0049	0.0001	0.0004	0.0001	0.0002	0.0002	0.0002	0.0003	0.0003	0.0002	0.0002	0.0002	0.0001	0.0003	0	0.0002	0.0023	0	0	0	0.0002	0	0	0.0	0.91255	D	0.106	0.37872	T	0.991	0.64070	D	0.634	0.51870	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.535	0.38868	L	0.63	0.53088	T	-3.2	0.64710	D	0.613	0.62950	-0.7038	0.60256	T	0.186	0.53631	T	10	0.15530428	0.29274	T	0.064913	0.69421	D	0.200	0.48430	.	.	0.613722742674	0.61060	0.5533258384019232	0.55258	0.777021582019	0.65084	0.505043148994	0.39531	T	0.213043	0.57425	T	-0.347951	0.04857	T	-0.430168	0.29915	T	0.195038944482803	0.20138	T	0.709329	0.31993	T	0.5430972	0.69570	0.49043396	0.70520	0.5430972	0.69571	0.49043396	0.70520	-4.724	0.33693	T	.	.	0.077	0.06803	B	.;.	.;.	4.178369	0.62878	24.5	0.99866354624261855	0.94457	0.91212	0.53080	D	AEFDBCI	0.772052	0.70649	D	0.482077264652903	0.66043	4.899421	0.438060779481004	0.63954	4.639849	0.999999603088758	0.74766	0.741868	0.97996	0	0.724815	0.89359	0	0.774882	0.98623	0	0.714379	0.83352	0	.	.	4.52	3.41	0.38145	6.284000	0.72677	9.195000	0.79151	0.653000	0.53440	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8167:0.1833:0.0:0.0	9.159	0.36176	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	922.98	34	chr19	17943702	.	A	G	922.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.090e-01;DP=762;ExcessHet=0.0000;FS=2.206;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.42;ReadPosRankSum=-6.270e-01;SOR=0.397	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1075	20	0	1	0
chr19	18063921	18063921	C	T	exonic	IL12RB1	.	nonsynonymous SNV	IL12RB1:NM_001290023:exon13:c.G1573A:p.A525T	Immunodeficiency 30, Autosomal recessive	.	0	1482	38	2	0	42	0.0139721	.	.	236909	Mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_IL12RB1_deficiency|not_provided	MONDO:MONDO:0013955,MedGen:C4013949,OMIM:614891,Orphanet:319552|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.38	T	0.997	D	0.911	D	0.607	N	1.000	N	2.045	M	0.5	T	-1.014	T	0.056	T	0.06	2.671	14.89	2.15	0.895	0.433	8.432	0.206	.	0.0040	0.0195687	0.0117	0.0110	0.0015	0.0502	0	0.0027	0.0059	0.0401	0.0101163	1564	154602	rs11575935	0.0051	0.0051	0.0039	0.0062	0.0401	0.0050	0.0049	0.0390	0.0386	0.0094	0.0017	0.0132	0.0398	5.625e-05	0.0174	0.0009	0.0091	0.0401	0.0065	0.0065	0.0058	0.0072	0.0454	0.0062	0.0060	0.0406	0.0388	0.0090	0.0022	0.0023	0.0121	0.0454	0	0.0034	0.0011	0.0147	0.0409	.	.	.	0.016	0.60972	D	0.997	0.70673	D	0.911	0.64720	D	0.607226	0.10901	N	0.782500	1	0.08975	N	1.98	0.53716	M	0.5	0.55608	T	.	.	.	0.064	0.03613	-1.0136	0.25784	T	0.056	0.23677	T	10	0.0067195	0.00152	T	.	.	.	.	.	.	.	.	.	0.28488406152314305	0.28401	0.205483677471	0.22968	0.365413725376	0.20171	T	0.306319	0.67853	T	-0.624686	0.00103	T	-0.631365	0.10312	T	0.00868647556433934	0.00107	T	0.758824	0.38273	T	0.049493443	0.08796	0.060404792	0.11497	0.041172143	0.06014	0.074910164	0.16438	-4.196	0.26694	T	.	.	0.083	0.09385	B	.;.	.;.	1.593305	0.20375	14.72	0.9964637387613674	0.77005	0.02439	0.06873	N	AEFDBHI	0.045193	0.07363	N	-0.274419835101271	0.30139	1.677789	-0.516139272004057	0.21716	1.176021	0.591489704993698	0.21650	0.562547	0.31514	0	0.653731	0.59785	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	3.21	2.15	0.26590	0.439000	0.21293	0.062000	0.14145	0.527000	0.24520	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.7595:0.2405:0.0	8.432	0.31927	964	0.07719	Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1596.98	33	chr19	18063921	.	C	T	1596.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.100e-02;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.77;ReadPosRankSum=0.289;SOR=0.685	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1241	20	0	1	0
chr19	18161104	18161104	G	A	exonic	PIK3R2	.	nonsynonymous SNV	PIK3R2:NM_005027:exon5:c.G517A:p.G173S,	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2198090	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.801	P	0.415	B	0.020	N	1.000	N	1.04	L	2.25	T	-1.069	T	0.036	T	0.107	3.684	18.72	3.77	2.398	3.653	10.199	0.081	0.0442614020393	.	.	7.541e-05	0	0.0002	0	0	0	0	0.0003	3.88e-05	6	154602	rs767863322	4.764e-05	5.062e-05	2.606e-05	6.953e-05	0.0007	3.829e-05	3.508e-05	0.0006	0.0005	0	0	0	0	0	0.0005	9.038e-07	5.016e-05	0.0007	1.313e-05	1.312e-05	0	2.685e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.066	0.36113	T	0.227	0.25362	T	0.801	0.45051	P	0.415	0.44933	B	0.019945	0.27146	N	0.388183	1	0.08975	N	0.975	0.24501	L	2.25	0.17761	T	-0.47	0.15178	N	0.162	0.18920	-1.0693	0.09567	T	0.036	0.15465	T	10	0.11026195	0.20601	T	0.044261	0.61403	D	0.081	0.23632	0.567	0.68901	0.403424677067	0.39955	0.3540817194667866	0.35322	0.390564189156	0.40270	0.647352159023	0.59610	T	0.090344	0.38566	T	-0.509051	0.00508	T	-0.614959	0.11585	T	0.0878233479666001	0.10957	T	0.720728	0.33361	T	0.2513185	0.48140	0.11823288	0.28541	0.2513185	0.48140	0.11823288	0.28541	-8.165	0.62189	D	0.13618837082665075	0.14871	0.113	0.24329	B	.;.;.	.;.;.	3.507406	0.49099	22.7	0.98694447966326959	0.44809	0.80300	0.39974	D	ALL	0.387746	0.46761	N	-0.0241336885091734	0.40764	2.426502	-0.0645774572757126	0.36866	2.15101	0.999999996655368	0.74766	0.72623	0.87236	0	0.484254	0.07192	0	0.594344	0.31042	0	0.604282	0.37693	0	.	.	4.82	3.77	0.42499	3.495000	0.53043	6.429000	0.55629	0.582000	0.30178	0.977000	0.34929	1.000000	0.68203	0.335000	0.25317	0.0931:0.0:0.9069:0.0	10.199	0.42247	964	0.07719	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	766.98	40	chr19	18161104	.	G	A	766.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=804;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.47;ReadPosRankSum=0.773;SOR=0.675	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1235	20	0	1	0
chr19	18173892	18173892	G	-	exonic	IFI30	.	frameshift deletion	IFI30:NM_006332:exon1:c.51delG:p.D18Tfs*15,	.	.	396	1111	13	1	1	16	0.00670541	.	.	2811840	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	.	0.0010	0	0.0074	0	0	0.0007	0.0149	0.0010	0.000207	32	154602	rs764788458	0.0005	0.0005	0.0005	0.0006	0.0163	0.0005	0.0005	0.0137	0.0127	6.329e-05	0.0021	0.0005	0	6.196e-05	0.0163	0.0004	0.0011	0.0015	0.0006	0.0006	0.0005	0.0006	0.0025	0.0005	0.0004	0.0019	0.0017	0.0001	0	0.0025	0	0	9.407e-05	0.0068	0.0004	0.0019	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2108.94	40	chr19	18173891	.	TG	T	2108.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.940e-01;DP=929;ExcessHet=0.0000;FS=3.806;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=2.65;SOR=0.458	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,111,1665	20	0	1	0
chr19	18177230	18177230	G	A	exonic	IFI30	.	nonsynonymous SNV	IFI30:NM_006332:exon5:c.G574A:p.A192T,	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.996	D	0.627	P	.	.	1.000	D	3.39	M	1.33	T	-0.346	T	0.230	T	0.801	4.958	28.9	5.1	2.383	8.347	17.529	0.449	0.0937293976602	.	0.000199681	4.673e-05	0	0	0	0	4.364e-05	0	0.0001	2.59e-05	4	154602	rs541907116	1.392e-05	1.847e-05	1.381e-05	1.404e-05	0.0003	9.09e-06	7.39e-06	6.121e-05	2.532e-05	3.037e-05	0	0	0	0	0.0003	9.093e-06	1.681e-05	7.289e-05	1.313e-05	1.312e-05	0	2.686e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.002	0.72154	D	0.004	0.74150	D	0.996	0.68779	D	0.627	0.51631	P	.	.	.	.	1	0.81001	D	3.695	0.94570	H	1.33	0.35031	T	-3.7	0.70553	D	0.851	0.84713	-0.3463	0.73661	T	0.230	0.59534	T	9	0.9240848	0.91758	D	0.093729	0.76125	D	0.449	0.75004	0.753	0.88319	0.722628367933	0.72017	0.7130798634893879	0.71249	0.136873454913	0.15434	0.555047333241	0.46569	T	0.704944	0.91536	D	0.159842	0.70186	D	-0.00817468	0.69804	D	0.967172801494598	0.67822	D	0.913609	0.69252	D	0.2747706	0.50542	0.31555042	0.57540	0.2747706	0.50542	0.31555042	0.57540	-10.003	0.73930	D	.	.	0.859	0.80277	P	.	.	4.482562	0.69953	25.4	0.99838486178371166	0.91886	0.98216	0.80621	D	AEFDBCI	0.937614	0.93562	D	0.571257788948046	0.71384	5.64295	0.436228841306498	0.63836	4.625632	0.999999999998687	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.693144	0.63139	0	0.604944	0.38103	0	.	.	5.1	5.1	0.68917	8.421000	0.90129	11.666000	0.94044	0.575000	0.29119	1.000000	0.71638	1.000000	0.68203	0.023000	0.12082	0.0:0.0:1.0:0.0	17.529	0.87704	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1192.98	33	chr19	18177230	.	G	A	1192.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.36;DP=795;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.43;ReadPosRankSum=-7.300e-02;SOR=0.625	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1185	20	0	1	0
chr19	18213406	18213406	C	T	exonic	PDE4C	.	nonsynonymous SNV	PDE4C:NM_001369701:exon12:c.G877A:p.G293S	.	.	.	.	.	.	.	.	.	.	.	2390997	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	1.0	D	1.0	D	0.000	D	1.000	D	1.675	L	-0.44	T	-0.169	T	0.419	T	0.548	2.867	15.55	4.63	2.132	7.531	14.986	0.599	0.158366990081	.	.	2.48e-05	0	8.684e-05	0	0	3.005e-05	0	0	1.94e-05	3	154602	rs752486195	8.894e-06	8.893e-06	1.225e-05	5.501e-06	6.709e-05	4.96e-06	3.82e-06	1.779e-05	8.93e-06	2.989e-05	6.709e-05	0	0	0	0	6.296e-06	1.656e-05	1.159e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	4.827e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.827e-05	0	0	0	0	0	0	0	0	0	0.026	0.46910	D	0.038	0.51421	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999402	0.50806	D	1.995	0.54099	M	-0.44	0.69777	T	-5.83	0.88839	D	0.897	0.89689	-0.1685	0.78464	T	0.419	0.76503	T	10	0.9517045	0.94510	D	0.158367	0.83878	D	0.599	0.84128	0.848	0.95084	0.902565372613	0.90159	0.6313033846200625	0.63064	1.17208794008	0.79793	0.844628036022	0.88800	D	0.457473	0.86621	T	-0.0660619	0.41953	T	-0.156823	0.58636	T	0.962689399719238	0.66440	D	0.985761	0.95158	D	0.6974261	0.77916	0.44453445	0.67632	0.6974261	0.77918	0.44453445	0.67632	-10.789	0.78488	D	.	.	0.464	0.69803	A	.;.;.;.;.;.	.;.;.;.;.;.	3.887428	0.56536	23.7	0.99168730176019293	0.54326	0.96875	0.71414	D	AEFBI	0.949474	0.96216	D	0.331203204910076	0.57756	3.94433	0.23491821690039	0.51796	3.359092	0.999999394017758	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.63	4.63	0.57175	7.617000	0.82227	7.538000	0.60033	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.023000	0.12082	0.0:1.0:0.0:0.0	14.986	0.71003	923	0.18507	.;3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|HD/PDEase domain|HD/PDEase domain;.;.;3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|HD/PDEase domain|HD/PDEase domain;3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|HD/PDEase domain|HD/PDEase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	419.98	63	chr19	18213406	.	C	T	419.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=743;ExcessHet=0.0000;FS=3.810;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.67;ReadPosRankSum=-9.900e-01;SOR=1.239	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,104,1166	20	0	1	0
chr19	18219278	18219278	G	C	exonic	PDE4C	.	nonsynonymous SNV	PDE4C:NM_001369701:exon7:c.C229G:p.P77A	.	.	434	1075	13	0	0	13	0.00601017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.998	D	0.000	D	0.957	D	2.885	M	-0.3	T	0.336	D	0.569	D	0.476	2.463	14.19	4.53	2.072	4.274	14.765	0.343	0.128041420134	0.0018	0.00139776	0.0020	0.0002	0.0016	0	0.0014	0.0031	0.0011	0.0003	0.0019922	308	154602	rs147234546	0.0024	0.0024	0.0024	0.0023	0.0042	0.0023	0.0023	0.0029	0.0024	0.0003	0.0021	0.0152	0	0.0013	0.0042	0.0024	0.0031	0.0004	0.0020	0.0020	0.0020	0.0019	0.0024	0.0018	0.0017	0.0021	0.0020	0.0007	0	0.0022	0.0176	0	0.0010	0	0.0024	0.0019	0.0004	0.053	0.38863	T	0.039	0.52389	D	0.904	0.49848	P	0.103	0.30945	B	0.000002	0.62929	D	0.059348	0.957005	0.38002	D	2.38	0.68558	M	-0.63	0.72011	T	-5.3	0.84601	D	0.544	0.58031	0.336	0.88125	D	0.569	0.84395	D	10	0.011885911	0.00258	T	0.128041	0.80993	D	0.343	0.66488	.	.	0.912814792197	0.91193	0.5164798107132754	0.51570	1.12752289252	0.78496	0.461168706417	0.33470	T	0.354183	0.72137	T	-0.294429	0.09195	T	-0.198124	0.54824	T	0.0513903454280423	0.05743	T	0.918108	0.70532	D	0.3602891	0.57858	0.3591059	0.61375	0.3602891	0.57858	0.3591059	0.61374	-8.729	0.69267	D	.	.	0.133	0.38587	B	.;.;.;.;.;.	.;.;.;.;.;.	4.272984	0.65030	24.8	0.98128504727508492	0.38498	0.98328	0.81675	D	AEFDBI	0.781233	0.71288	D	0.32924278545193	0.57653	3.933662	0.315147164248647	0.56431	3.806229	0.616392387010096	0.21847	0.615465	0.37627	0	0.626922	0.53725	0	0.658983	0.55881	0	0.562822	0.20929	0	.	.	4.53	4.53	0.55009	4.370000	0.59288	8.150000	0.76709	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.0:1.0:0.0	14.765	0.69250	911	0.21964	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1231.98	34	chr19	18219278	.	G	C	1231.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.00;DP=817;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.84;ReadPosRankSum=1.24;SOR=0.700	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr19	18257739	18257739	T	C	exonic	IQCN	.	nonsynonymous SNV	IQCN:NM_001145304:exon4:c.A3545G:p.H1182R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.736	P	0.177	B	.	.	1.000	N	1.845	L	4.04	T	-0.956	T	0.011	T	0.241	0.886	8.598	2.04	0.051	-0.381	8.317	0.045	0.000624627015836	.	0.000199681	2.639e-05	0	0	0.0004	0	0	0	0	2.59e-05	4	154602	rs564811766	8.912e-06	8.893e-06	8.182e-06	9.65e-06	0.0003	4.97e-06	3.83e-06	0.0002	0.0001	0	0	0	0.0003	0	0	9.002e-07	0	0	2.627e-05	2.625e-05	1.285e-05	4.028e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0	0.346	0.12469	T	0.29	0.21011	T	0.736	0.42845	P	0.125	0.32635	B	.	.	.	.	1	0.08975	N	.	.	.	4.03	0.03382	T	-0.65	0.18877	N	0.148	0.36359	-0.9557	0.39970	T	0.011	0.03996	T	9	0.047321826	0.04035	T	6.25E-4	0.00303	T	0.045	0.12272	0.353	0.35246	0.128392430309	0.12331	0.07961227817720969	0.07896	0.218737072753	0.24414	0.329412460327	0.14845	T	0.011073	0.09929	T	-0.478753	0.00752	T	-0.656172	0.08527	T	0.0851912498474121	0.10637	T	0.392661	0.09777	T	0.03537944	0.04153	0.049243607	0.07486	0.03537944	0.04153	0.049243607	0.07485	-1.191	0.01238	T	.	.	0.081	0.13737	B	.;.;.;.	.;.;.;.	-0.405807	0.02192	0.217	0.66338721340669626	0.08030	0.07517	0.13531	N	AEFDBHCI	0.049349	0.08517	N	-0.759440954406714	0.14377	0.7157375	-0.885078363346077	0.12447	0.6403047	1.98261750998865E-5	0.02871	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	4.26	2.04	0.25787	-0.393000	0.07366	0.309000	0.17063	-0.364000	0.05486	0.011000	0.18532	0.001000	0.17328	0.001000	0.02609	0.0:0.0:0.395:0.605	8.317	0.31269	871	0.31377	IQ motif, EF-hand binding site;IQ motif, EF-hand binding site;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1448.98	33	chr19	18257739	.	T	C	1448.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.624e+00;DP=922;ExcessHet=0.0000;FS=1.502;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=-8.300e-01;SOR=0.510	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1106	20	0	1	0
chr19	18257742	18257742	C	T	exonic	IQCN	.	nonsynonymous SNV	IQCN:NM_001145304:exon4:c.G3542A:p.R1181Q	.	.	430	1063	28	1	0	30	0.0139147	.	.	2811843	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.33	T	0.703	P	0.072	B	0.489	N	1.000	N	0.415	N	3.97	T	-0.908	T	0.004	T	0.055	1.633	11.42	-4.28	-0.772	-1.081	8.402	0.048	0.00561481164736	0.0025	0.00199681	0.0027	0.0007	0.0038	0	0.0002	0.0040	0.0012	0.0004	0.0026778	414	154602	rs147110090	0.0038	0.0038	0.0039	0.0037	0.0044	0.0037	0.0037	0.0043	0.0043	0.0007	0.0032	0.0042	2.521e-05	0.0003	0.0028	0.0044	0.0032	0.0007	0.0027	0.0027	0.0028	0.0026	0.0051	0.0025	0.0024	0.0042	0.0038	0.0006	0	0.0051	0.0035	0	9.416e-05	0.0136	0.0041	0.0047	0.0015	0.269	0.16091	T	0.467	0.12351	T	0.648	0.40583	P	0.072	0.28043	B	0.488781	0.05024	N	1.467820	1	0.08975	N	.	.	.	3.94	0.03544	T	-0.1	0.08495	N	0.07	0.05929	-0.9079	0.47109	T	0.004	0.01400	T	10	0.0059554875	0.00134	T	0.005615	0.14500	T	0.048	0.13305	.	.	0.0551355673512	0.04727	0.046398099178604615	0.04583	0.209070641549	0.23371	0.206471741199	0.00670	T	0.004904	0.04322	T	-0.732653	0.00023	T	-0.825326	0.01348	T	0.00359907381321254	0.00038	T	0.559044	0.20591	T	0.023774633	0.01146	0.039027713	0.03904	0.023774633	0.01146	0.039027713	0.03904	-4.45	0.30915	T	.	.	0.081	0.18705	B	.;.;.;.	.;.;.;.	-0.707385	0.01304	0.070	0.95511092694057775	0.27115	0.01951	0.05929	N	AEFDBHCI	0.038037	0.05324	N	-1.10275933400737	0.06594	0.3039807	-1.23907239928053	0.05295	0.2519379	1.11638662379748E-4	0.05269	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	4.26	-4.28	0.03475	-1.511000	0.02364	-4.576000	0.02087	-1.032000	0.01689	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6529:0.1628:0.1843	8.402	0.31753	871	0.31377	IQ motif, EF-hand binding site;IQ motif, EF-hand binding site;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2489.98	33	chr19	18257742	.	C	T	2489.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.05;DP=975;ExcessHet=0.0000;FS=1.869;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.31;ReadPosRankSum=-5.300e-02;SOR=0.556	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1106	20	0	1	0
chr19	18258063	18258063	C	T	exonic	IQCN	.	nonsynonymous SNV	IQCN:NM_001145304:exon4:c.G3221A:p.R1074H	.	.	427	1059	34	2	0	38	0.0176252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.092	B	0.002	B	0.158	N	1.000	N	0.55	N	3.99	T	-0.962	T	0.007	T	0.205	0.984	9.016	1.52	0.662	0.761	7.229	0.073	.	0.0038	0.00299521	0.0047	0.0012	0.0047	0.0001	0.0002	0.0066	0.0092	0.0034	0.0042884	663	154602	rs141048177	0.0041	0.0041	0.0040	0.0042	0.0265	0.0040	0.0040	0.0231	0.0218	0.0014	0.0049	0.0208	2.519e-05	0.0003	0.0265	0.0040	0.0053	0.0035	0.0036	0.0036	0.0038	0.0033	0.0054	0.0033	0.0032	0.0045	0.0041	0.0010	0	0.0054	0.0216	0	0.0003	0.0374	0.0043	0.0104	0.0037	0.163	0.23450	T	0.095	0.48336	T	0.092	0.25296	B	0.002	0.06944	B	0.157719	0.03014	N	1.971570	1	0.08975	N	.	.	.	3.94	0.03597	T	-0.59	0.17624	N	0.075	0.11626	-0.9618	0.38839	T	0.007	0.02518	T	10	0.0044397414	0.00091	T	.	.	.	0.073	0.21317	.	.	0.0138822411134	0.00435	0.45776120767345174	0.45694	0.222400704968	0.24772	0.377672582865	0.21925	T	0.021313	0.16617	T	-0.62893	0.00097	T	-0.674686	0.07311	T	0.00170340232547441	0.00017	T	0.509649	0.16214	T	0.028322374	0.02152	0.030063309	0.01416	0.028322374	0.02151	0.030063309	0.01415	-5.103	0.40376	T	.	.	0.105	0.19559	B	.;.;.;.	.;.;.;.	1.248499	0.16447	12.55	0.94216204161609229	0.24461	0.05184	0.11004	N	AEFDBCI	0.064026	0.12409	N	-1.13637647039827	0.06007	0.2754035	-1.18334913895505	0.06187	0.2970505	1.35823505308899E-4	0.05486	0.554377	0.28877	0	0.547309	0.14657	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	2.58	1.52	0.22158	0.373000	0.20215	0.117000	0.14863	-0.881000	0.02461	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3029:0.6971:0.0	7.229	0.25209	871	0.31377	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2018.11	33	chr19	18258063	.	C	T	2018.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.56;DP=889;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-8.320e-01;SOR=0.674	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1106	19	0	2	0
chr19	18396360	18396360	T	C	exonic	LRRC25	.	nonsynonymous SNV	LRRC25:NM_145256:exon1:c.A604G:p.N202D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.018	N	1.000	N	-1.59	N	1.55	T	-0.990	T	0.016	T	0.013	-0.996	0.267	-8.12	-2.126	-1.640	8.565	0.028	0.00421638018001	.	.	8.426e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs778458323	6.843e-06	6.84e-06	6.808e-06	6.877e-06	1.159e-05	3.46e-06	2.52e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.094e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.018255	0.01483	N	2.383580	1	0.08975	N	-1.1	0.00987	N	1.55	0.29866	T	0.37	0.03639	N	0.024	0.01421	-0.9902	0.32551	T	0.016	0.06664	T	10	0.016747475	0.00354	T	0.004216	0.10153	T	0.028	0.06331	0.198	0.11110	0.102598925029	0.09809	0.08111827850611708	0.08046	0.520469550833	0.49844	0.382133305073	0.22559	T	0.004099	0.03512	T	-0.497031	0.00594	T	-0.854873	0.00900	T	0.0150332712256845	0.00324	T	0.216378	0.02701	T	0.04077884	0.05886	0.03889459	0.03859	0.04077884	0.05886	0.03889459	0.03859	-2.626	0.06703	T	.	.	0.071	0.04041	B	.;.	.;.	-0.676327	0.01377	0.079	0.33640679349860347	0.02015	0.00137	0.00841	N	AEFBI	0.036560	0.04893	N	-2.2027053446066	0.00076	0.003237756	-2.20999949209272	0.00106	0.004673366	0.999999764110783	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.06	-8.12	0.00949	-1.503000	0.02381	-1.078000	0.06398	-1.161000	0.01412	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.2362:0.1181:0.6458	8.565	0.32697	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	340.98	34	chr19	18396360	.	T	C	340.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.130e-01;DP=715;ExcessHet=0.0000;FS=2.925;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.32;ReadPosRankSum=0.702;SOR=1.294	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1138	20	0	1	0
chr19	18432186	18432186	G	A	exonic	SSBP4	.	nonsynonymous SNV	SSBP4:NM_001009998:exon9:c.G610A:p.A204T	.	.	418	1078	25	1	0	27	0.0123683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.004	B	0.008	B	0.002	N	1.000	N	1.5	L	.	.	-1.017	T	0.062	T	0.061	0.174	4.937	0.211	-0.189	1.449	8.284	0.079	0.0011665959832	0.0019	0.00239617	0.0034	0.0004	0.0073	0	0.0002	0.0040	0.0069	0.0031	0.0032018	495	154602	rs147838337	0.0027	0.0027	0.0026	0.0029	0.0160	0.0027	0.0026	0.0133	0.0123	0.0006	0.0078	0.0264	2.519e-05	0.0002	0.0160	0.0021	0.0043	0.0032	0.0027	0.0027	0.0027	0.0027	0.0064	0.0025	0.0024	0.0054	0.0050	0.0004	0	0.0064	0.0268	0	9.414e-05	0.0204	0.0024	0.0080	0.0031	0.296	0.14743	T	0.088	0.40586	T	0.004	0.12183	B	0.008	0.13708	B	0.002032	0.37411	N	0.165270	1	0.08975	N	1.845	0.48678	L	.	.	.	-0.68	0.19509	N	0.174	0.18649	-1.0171	0.24657	T	0.062	0.25815	T	9	0.0037202537	0.00069	T	0.001167	0.01484	T	0.079	0.23065	.	.	0.0675242888579	0.06100	0.3259170069879462	0.32504	0.225567006478	0.25097	0.411224544048	0.26626	T	0.011158	0.13838	T	-0.591434	0.00164	T	-0.615082	0.11577	T	0.00363490260473922	0.00038	T	0.80202	0.45897	T	0.020744454	0.00644	0.037983518	0.03569	0.020744454	0.00644	0.037983518	0.03568	-4.831	0.39104	T	.	.	0.073	0.04847	B	.;.;.;.	.;.;.;.	1.137339	0.15243	11.70	0.88144089352050137	0.17749	0.34207	0.25012	N	AEFDBCI	0.167927	0.29464	N	-1.42948923902382	0.02383	0.1051683	-1.47284942250691	0.02569	0.1183982	0.999668353720477	0.41534	0.706548	0.73137	0	0.71359	0.82159	0	0.459711	0.06710	0	0.714379	0.83352	0	.	.	3.67	0.211	0.14512	1.541000	0.35732	1.577000	0.27452	-0.195000	0.09104	0.022000	0.19841	0.022000	0.20871	0.230000	0.22734	0.3137:0.0:0.6863:0.0	8.284	0.31077	946	0.12043	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	635.98	36	chr19	18432186	.	G	A	635.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.183;DP=926;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=-1.183e+00;SOR=0.680	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1195	20	0	1	0
chr19	18435032	18435032	G	A	exonic	ISYNA1	.	nonsynonymous SNV	ISYNA1:NM_001253389:exon8:c.C1174T:p.P392S	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.009	B	0.014	B	0.742	N	1.000	N	0.755	N	.	.	-1.010	T	0.067	T	0.262	0.963	8.930	-2.0	-0.071	1.063	7.475	0.036	0.0157696515035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.30943	T	0.185	0.36901	T	0.005	0.12996	B	0.006	0.12133	B	0.742182	0.06434	N	1.137380	1	0.08975	N	1.445	0.36358	L	.	.	.	-0.38	0.20576	N	0.037	0.26354	-1.0100	0.26917	T	0.067	0.27537	T	9	0.06423718	0.08489	T	0.01577	0.36685	T	0.036	0.09122	0.19	0.10039	0.281780670237	0.27795	0.4017849271235479	0.40094	0.26534558942	0.29086	0.33976328373	0.16403	T	0.106272	0.41748	T	-0.136465	0.30453	T	-0.433799	0.29504	T	0.0440827521461984	0.04435	T	0.564843	0.19943	T	0.05118319	0.09360	0.0435652	0.05449	0.05118319	0.09360	0.0435652	0.05449	-3.456	0.16968	T	.	.	0.071	0.05800	B	.;.;.	.;.;.	0.439131	0.08096	4.820	0.69988303923651318	0.09149	0.20303	0.20990	N	AEFDBHCI	0.145518	0.26875	N	-1.1195026127784	0.06296	0.2894752	-1.20759356411892	0.05787	0.2767211	0.999999334898053	0.74766	0.67177	0.52595	0	0.606735	0.50208	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.93	-2.0	0.07024	0.538000	0.22869	1.171000	0.24625	0.614000	0.49286	0.002000	0.15269	0.001000	0.17328	0.002000	0.04165	0.0:0.4808:0.3578:0.1614	7.475	0.26539	952	0.10565	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	869.98	38	chr19	18435032	.	G	A	869.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.15;DP=881;ExcessHet=0.0000;FS=0.842;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.48;ReadPosRankSum=0.378;SOR=0.523	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1052	20	0	1	0
chr19	18589005	18589005	C	G	exonic	REX1BD	.	nonsynonymous SNV	REX1BD:NM_001100418:exon2:c.C110G:p.P37R	.	.	417	1093	11	1	0	13	0.00591178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.999	D	.	.	0.845	N	2.075	M	.	.	-0.821	T	0.244	T	0.367	3.123	16.44	2.55	1.765	0.733	8.801	0.044	.	.	0.00179712	0.0101	0.0032	0.0111	0	0	0.0063	0.0119	0.0121	0.0009314	144	154602	rs202026240	0.0030	0.0029	0.0028	0.0032	0.0093	0.0030	0.0029	0.0087	0.0085	0.0005	0.0017	0.0054	0.0001	8.838e-05	0.0063	0.0028	0.0036	0.0093	0.0016	0.0016	0.0016	0.0016	0.0075	0.0015	0.0014	0.0055	0.0049	0.0006	0	0.0018	0.0066	0	0	0.0068	0.0019	0.0028	0.0075	0.013	0.53900	D	0.033	0.54934	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.845184	0.28575	N	.	.	.	.	.	.	-3.06	0.63090	D	0.223	0.25006	-0.8208	0.53883	T	0.244	0.61260	T	8	0.004998386	0.00108	T	.	.	.	0.044	0.11924	.	.	0.326074293725	0.32213	0.09538520792044904	0.09470	1.30046479418	0.83003	.	.	.	0.110123	0.42456	T	-0.359599	0.04152	T	-0.282351	0.46564	T	0.0255651805281062	0.01347	T	0.759324	0.38363	T	0.17989048	0.39083	0.31082734	0.57092	0.17989048	0.39082	0.31082734	0.57091	-2.679	0.07128	T	.	.	0.361	0.57268	A	.;.	.;.	3.899462	0.56795	23.8	0.99577808731653061	0.72802	0.26049	0.22880	N	ALL	0.152649	0.27737	N	0.00751912462164206	0.42196	2.537942	-0.0668757576839432	0.36769	2.144052	0.999999981318279	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.69	2.55	0.29757	0.303000	0.18965	0.845000	0.22080	0.469000	0.21855	0.010000	0.18352	0.000000	0.08366	0.401000	0.26804	0.2232:0.7768:0.0:0.0	8.801	0.34066	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1368.98	33	chr19	18589005	.	C	G	1368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.391;DP=753;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.95;ReadPosRankSum=-3.010e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1036	20	0	1	0
chr19	18667405	18667405	G	C	exonic	KLHL26	.	nonsynonymous SNV	KLHL26:NM_001345985:exon3:c.G271C:p.E91Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000687497904195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.088e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.939587	0.26832	N	.	.	.	1.99	0.21666	T	.	.	.	0.084	0.06059	.	.	.	.	.	.	.	0.083473	0.13890	T	6.87E-4	0.00418	T	.	.	.	.	0.359763055319	0.35592	.	.	.	.	.	.	.	0.013743	0.11830	T	-0.204846	0.20110	T	-0.532024	0.19085	T	.	.	.	0.323368	0.06588	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.07460	B	.	.	-0.096785	0.03660	0.734	0.75824425077734603	0.11225	0.00145	0.00883	N	AEFBI	0.019080	0.00631	N	.	.	.	.	.	.	0.0726245442509791	0.15607	0.580535	0.33130	0	0.601575	0.49859	0	0.576033	0.28219	0	0.727631	0.95156	0	.	.	0.862	-0.602	0.11051	-1.114000	0.03404	-0.106000	0.11884	-0.566000	0.04804	0.002000	0.15269	0.002000	0.18203	0.031000	0.13245	0.4852:0.0:0.5148:0.0	2.631	0.04645	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	296.0	38	chr19	18667405	.	G	C	296.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.77;DP=670;ExcessHet=0.0000;FS=4.039;InbreedingCoeff=-0.0259;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.38;ReadPosRankSum=-1.324e+00;SOR=1.863	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr19	18884240	18884240	C	T	exonic	CERS1	.	nonsynonymous SNV	CERS1:NM_001290265:exon3:c.G143A:p.R48Q	.	.	420	1081	21	0	0	21	0.00961979	.	.	469512	Progressive_myoclonic_epilepsy_type_8	MONDO:MONDO:0014545,MedGen:C5190825,OMIM:616230,Orphanet:424027	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.45	T	0.013	B	0.012	B	.	.	1.000	D	1.405	L	-1.89	D	-0.634	T	0.395	T	0.175	0.548	6.963	3.08	0.720	0.969	7.298	0.187	0.111186551468	.	0.000199681	0.0003	0	0	0.0001	0	0.0001	0.0013	0.0016	0.0002199	34	154602	rs201005099	0.0001	0.0001	7.899e-05	0.0002	0.0023	0.0001	0.0001	0.0013	0.0012	0	4.476e-05	0	5.039e-05	0	0.0023	1.889e-05	0.0004	0.0015	4.601e-05	4.594e-05	5.144e-05	4.033e-05	0.0002	2.11e-05	1.527e-05	1.171e-05	6.25e-06	0	0	6.553e-05	0	0	0	0	4.411e-05	0.0010	0.0002	0.335	0.14843	T	0.629	0.07842	T	0.013	0.16609	B	0.012	0.16012	B	.	.	.	.	0.996427	0.81001	N	0.54	0.13725	N	-1.89	0.84557	D	-0.64	0.19933	N	0.243	0.28028	-0.6339	0.63405	T	0.395	0.74829	T	9	0.02847308	0.00979	T	0.111187	0.78886	D	0.187	0.46274	.	.	0.438278051908	0.43446	.	.	.	.	0.284476578236	0.08124	T	0.536708	0.84064	D	-0.378817	0.03170	T	-0.341549	0.40169	T	0.02746082407502	0.01610	T	0.775922	0.40781	T	0.036260776	0.04428	0.03857445	0.03757	0.043206904	0.06692	0.039683353	0.04118	-6.045	0.46654	T	0.1983911356062313	0.26269	0.088	0.13080	B	.;.;.	.;.;.	1.217706	0.16111	12.33	0.97735577517697381	0.35646	0.39342	0.26191	N	AEFBHCI	0.220516	0.34526	N	-0.681057154112685	0.16563	0.8449095	-0.64067046042269	0.18452	0.985804	0.999998515731578	0.74766	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.755437	0.99637	0	.	.	4.12	3.08	0.34576	1.010000	0.29500	0.706000	0.20886	-0.371000	0.05444	0.523000	0.27135	0.176000	0.23382	0.014000	0.10232	0.0:0.7291:0.1716:0.0993	7.298	0.25579	929	0.16858	TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain;.;TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1440.98	34	chr19	18884240	.	C	T	1440.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.850;DP=858;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.37;ReadPosRankSum=0.516;SOR=0.663	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1279	20	0	1	0
chr19	18907090	18907090	C	G	exonic	COPE	.	nonsynonymous SNV	COPE:NM_001330469:exon4:c.G313C:p.D105H	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.999	D	0.989	D	0.000	D	1.000	D	2.51	M	0.9	T	-0.480	T	0.278	T	0.805	4.488	24.1	4.76	2.190	7.390	16.346	0.373	0.101258239315	0.0015	0.000599042	0.0013	0.0003	0.0016	0	0	0.0020	0	0.0002	0.0011449	177	154602	rs145639224	0.0019	0.0019	0.0020	0.0018	0.0024	0.0019	0.0018	0.0023	0.0023	0.0002	0.0009	3.836e-05	0	0.0001	0.0005	0.0024	0.0013	9.301e-05	0.0011	0.0011	0.0013	0.0009	0.0021	0.0010	0.0009	0.0018	0.0017	0.0004	0	0.0003	0	0	0.0002	0	0.0021	0.0014	0	0.004	0.65419	D	0.017	0.63918	D	0.999	0.77913	D	0.948	0.68536	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.02	0.86243	M	0.9	0.45248	T	-4.04	0.76254	D	0.808	0.80375	-0.4802	0.69359	T	0.278	0.65017	T	10	0.13496006	0.25684	T	0.101258	0.77403	D	0.373	0.69188	.	.	0.533025014498	0.52951	0.5977863943446438	0.59709	0.867762679245	0.69277	0.641280770302	0.58746	T	0.228351	0.59387	T	-0.186681	0.22745	T	-0.0449218	0.67369	D	0.183906346559525	0.19478	T	0.910709	0.68343	D	0.8940642	0.90859	0.7584676	0.85728	0.8940642	0.90860	0.7584676	0.85728	-5.532	0.42536	T	.	.	0.799	0.81416	P	.;.;.	.;.;.	4.893602	0.80374	27.3	0.99614553988024601	0.75052	0.97858	0.77657	D	AEFBCI	0.936266	0.93232	D	0.751590490653364	0.83008	7.906044	0.692989803668981	0.81847	7.623209	0.999999997956225	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.76	4.76	0.60189	7.516000	0.80673	7.524000	0.59808	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.0:1.0:0.0:0.0	16.346	0.82966	934	0.15400	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1398.98	33	chr19	18907090	.	C	G	1398.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.89;DP=819;ExcessHet=0.0000;FS=2.516;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=-8.300e-02;SOR=0.902	GT:AD:DP:GQ:PL	0/1:51,54:105:99:1413,0,1120	20	0	1	0
chr19	18921914	18921914	G	A	exonic	DDX49	.	nonsynonymous SNV	DDX49:NM_019070:exon4:c.G397A:p.D133N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.991	D	0.961	D	0.000	D	1.000	D	2.23	M	3.37	T	-1.168	T	0.053	T	0.223	4.764	26.7	4.4	1.304	9.346	12.675	0.370	0.103008909665	.	0.000399361	8.351e-05	0	8.66e-05	0	0	3.05e-05	0	0.0004	7.76e-05	12	154602	rs562469064	5.884e-05	5.883e-05	4.493e-05	7.289e-05	0.0007	4.877e-05	4.497e-05	0.0003	0.0003	0	6.709e-05	3.827e-05	0	0	0.0007	3.687e-05	3.312e-05	0.0004	3.939e-05	3.937e-05	2.569e-05	5.37e-05	0.0008	1.714e-05	1.129e-05	0.0003	0.0002	0	0	6.531e-05	0	0	0	0	1.47e-05	0	0.0008	0.015	0.52492	D	0.011	0.64786	D	0.991	0.64070	D	0.961	0.70482	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.84	0.82582	M	3.37	0.05847	T	-4.51	0.78222	D	0.976	0.98657	-1.1680	0.00579	T	0.053	0.22462	T	10	0.7192699	0.73553	D	0.103009	0.77680	D	0.370	0.68930	.	.	0.511220899679	0.50763	0.779462653133559	0.77897	1.16590570783	0.79617	0.734115123749	0.72109	T	0.147791	0.48605	T	-0.347814	0.04865	T	-0.43284	0.29614	T	0.933413207530975	0.60015	D	0.994251	0.98100	D	0.5462916	0.69749	0.3389096	0.59663	0.5462916	0.69750	0.3389096	0.59662	-11.784	0.83782	D	.	.	0.940	0.85917	P	.	.	5.267835	0.88451	29.6	0.99910475432143153	0.98022	0.96401	0.68957	D	AEFDBCI	0.917694	0.88568	D	0.700300362934198	0.79653	7.123067	0.646517350126198	0.78353	6.858897	0.999999585392701	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.44	4.4	0.52402	9.471000	0.96845	11.735000	0.95074	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.449000	0.27873	0.0805:0.0:0.9195:0.0	12.675	0.56252	940	0.13648	DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	894.98	35	chr19	18921914	.	G	A	894.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.993;DP=830;ExcessHet=0.0000;FS=0.940;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=2.65;SOR=0.502	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr19	19193966	19193966	C	T	exonic	RFXANK	.	nonsynonymous SNV	RFXANK:NM_001278728:exon2:c.C20T:p.A7V	MHC class II deficiency, complementation group B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.073	B	0.107	B	0.640	N	1.000	N	0.345	N	1.44	T	-0.992	T	0.106	T	0.349	1.254	10.08	1.2	0.062	0.414	7.194	0.049	0.0379397670374	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1183893593	2.052e-06	2.052e-06	0	4.125e-06	0.0002	5.5e-07	1.5e-07	.	.	0	2.236e-05	0	2.519e-05	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51853	D	0.0	0.92824	D	0.044	0.21686	B	0.03	0.21741	B	0.639866	0.10609	N	0.822329	1	0.08975	N	0.46	0.12951	N	-0.03	0.77964	T	-3.49	0.68056	D	0.231	0.25989	-0.9915	0.32218	T	0.106	0.38709	T	10	0.0800347	0.12945	T	0.03794	0.57921	D	0.049	0.13647	0.352	0.35084	0.678942522897	0.67621	0.3824666032446265	0.38161	0.25158685093	0.27740	0.363016009331	0.19825	T	0.080358	0.36344	T	-0.0964111	0.37019	T	-0.293399	0.45418	T	0.0634587827736338	0.07702	T	0.755224	0.37818	T	0.054873414	0.10589	0.06699215	0.13798	0.054873414	0.10588	0.06699215	0.13798	-4.393	0.29462	T	.	.	0.092	0.22789	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.891201	0.24020	16.24	0.99082398968648966	0.52002	0.05769	0.11701	N	AEFBH	0.100947	0.20287	N	-1.14149808720346	0.05920	0.2712259	-1.12346398727549	0.07253	0.3521336	0.999497225216378	0.40007	0.660085	0.49399	0	0.685571	0.66316	0	0.662677	0.59975	0	0.651492	0.60203	0	.	.	4.58	1.2	0.20181	0.152000	0.16120	.	.	0.526000	0.24426	0.000000	0.06391	0.000000	0.08366	0.443000	0.27738	0.0:0.7196:0.0:0.2804	7.194	0.25018	725	0.54935	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	648.98	36	chr19	19193966	.	C	T	648.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.340e-01;DP=749;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.80;ReadPosRankSum=0.523;SOR=0.698	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1068	20	0	1	0
chr19	19268050	19268050	G	A	exonic	TM6SF2	.	nonsynonymous SNV	TM6SF2:NM_001001524:exon7:c.C647T:p.P216L,	.	.	406	1099	17	0	0	17	0.00767494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	U	1.000	D	2.57	M	0.75	T	-0.405	T	0.248	T	0.91	3.169	16.60	4.74	2.193	7.822	15.219	0.596	0.109003907136	0.0002	0.000599042	0.0004	0	0.0012	0	0	0.0005	0.0045	0.0002	0.0003881	60	154602	rs186811910	0.0004	0.0004	0.0004	0.0004	0.0113	0.0003	0.0003	0.0091	0.0083	0.0004	0.0011	0.0008	0	0	0.0113	0.0003	0.0011	0.0003	0.0006	0.0006	0.0006	0.0006	0.0038	0.0005	0.0005	0.0030	0.0027	9.632e-05	0	0.0038	0.0003	0	0	0.0034	0.0003	0.0028	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000240	0.47286	U	0.000000	1	0.81001	D	3.11	0.87757	M	0.75	0.50192	T	-7.98	0.96395	D	0.879	0.87699	-0.4054	0.71857	T	0.248	0.61762	T	10	0.42586207	0.57169	T	0.109004	0.78579	D	0.596	0.83965	.	.	0.356484672536	0.35262	0.6789202065776354	0.67831	0.806251199678	0.66477	0.468622773886	0.34490	T	0.298611	0.67117	T	0.0305121	0.55791	T	0.191791	0.82669	D	0.424041986465454	0.29840	T	0.973803	0.90577	D	0.6937057	0.77712	0.49910516	0.71039	0.6937057	0.77714	0.49910516	0.71040	-10.515	0.76933	D	.	.	0.327	0.55011	B	.	.	4.483275	0.69966	25.5	0.99820414673699931	0.90326	0.98494	0.83372	D	AEFDBI	0.845905	0.76280	D	0.584315029465696	0.72196	5.767704	0.446677935506681	0.64503	4.707086	0.999998193255724	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	4.74	4.74	0.59717	7.921000	0.86938	.	.	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.058000	0.15825	0.0:0.0:1.0:0.0	15.219	0.72983	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	950.98	40	chr19	19268050	.	G	A	950.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.02;DP=830;ExcessHet=0.0000;FS=1.735;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.93;ReadPosRankSum=0.529;SOR=0.895	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1255	20	0	1	0
chr19	19500171	19500171	T	C	exonic	GATAD2A	.	nonsynonymous SNV	GATAD2A:NM_001384537:exon9:c.T1250C:p.L417P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09091	36.98	57	chr19	19500171	.	T	C	36.98	.	AC=2;AF=0.091;AN=22;DP=57;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3700;MLEAC=2;MLEAF=0.091;MQ=60.00;QD=18.49;SOR=0.693	GT:AD:DP:GQ:PL	./.	10	1	0	10
chr19	19501203	19501205	GGA	-	exonic	GATAD2A	.	nonframeshift deletion	GATAD2A:NM_001384539:exon8:c.1200_1202del:p.E402del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.000798722	0.0010	0.0003	0.0015	0	0.0003	0.0015	0	6.069e-05	0.0001921	5	26028	rs372055939	0.0017	0.0017	0.0018	0.0016	0.0021	0.0017	0.0016	0.0020	0.0020	0.0004	0.0014	0	0	0.0002	0.0005	0.0021	0.0015	3.478e-05	0.0014	0.0014	0.0012	0.0015	0.0024	0.0012	0.0012	0.0020	0.0018	0.0003	0	0.0024	0.0003	0	0.0003	0	0.0022	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2331.94	33	chr19	19501202	.	GGGA	G	2331.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.484;DP=844;ExcessHet=0.0000;FS=5.128;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.54;ReadPosRankSum=1.07;SOR=0.387	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1221	20	0	1	0
chr19	19516254	19516254	G	A	exonic	NDUFA13	.	nonsynonymous SNV	NDUFA13:NM_015965:exon1:c.G16A:p.V6M,	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.995	D	0.000	D	1.000	N	2.195	M	-1.16	T	0.406	D	0.610	D	0.704	5.145	32	5.3	2.504	7.712	16.515	0.577	0.256935483004	.	.	8.302e-06	0	0	0	0	1.515e-05	0	0	6.5e-06	1	154602	rs750632502	5.473e-06	6.156e-06	2.723e-06	8.251e-06	0.0009	2.35e-06	1.7e-06	0.0003	0.0002	0	0	0	0	0	0.0009	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.91255	D	0.077	0.42436	T	0.997	0.70673	D	0.914	0.64984	D	0.000001	0.84330	D	0.000000	0.99998	0.58761	D	2.715	0.79425	M	-1.16	0.78082	T	-1.23	0.31170	N	0.645	0.68342	0.406	0.89187	D	0.610	0.86178	D	10	0.82060623	0.81268	D	0.256935	0.89349	D	0.577	0.82912	0.62	0.75461	0.953623680065	0.95313	0.8708372400610519	0.87049	0.443850555789	0.44308	.	.	.	0.199688	0.55704	T	0.233404	0.77040	D	0.0974921	0.76742	D	0.84814727306366	0.50006	D	0.914409	0.71628	D	0.4556108	0.64396	0.5297922	0.72832	0.4556108	0.64396	0.5297922	0.72832	-5.973	0.46053	T	0.3490484158178386	0.44638	0.693	0.72655	P	.;.;.;.	.;.;.;.	5.138609	0.86020	28.8	0.99857077039356856	0.93548	0.69454	0.34194	D	ALL	0.971818	0.99379	D	0.793838215447229	0.85717	8.660729	0.773564284432701	0.87903	9.385482	1.0	0.98316	0.441713	0.08003	0	0.504199	0.08210	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	5.3	5.3	0.74745	7.930000	0.87066	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.865000	0.41091	0.0:0.0:1.0:0.0	16.515	0.84146	432	0.80690	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1414.98	34	chr19	19516254	.	G	A	1414.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.850e-01;DP=837;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.64;ReadPosRankSum=0.529;SOR=0.666	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1343	20	0	1	0
chr19	19545520	19545520	A	G	exonic	CILP2	.	nonsynonymous SNV	CILP2:NM_153221:exon8:c.A2975G:p.E992G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.11	M	2.8	T	-1.124	T	0.081	T	0.912	3.043	16.15	5.79	2.224	9.097	14.112	0.535	0.143848334869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.84e-07	0	1.376e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	2.265	0.64440	M	2.8	0.11082	T	-6.53	0.91741	D	0.901	0.90138	-1.1239	0.02099	T	0.081	0.31884	T	10	0.85572445	0.84768	D	0.143848	0.82615	D	0.535	0.80486	0.471	0.54537	0.52468985305	0.52114	0.9132987788700442	0.91303	1.25182992795	0.81823	0.696289420128	0.66609	T	0.540031	0.84234	D	0.239585	0.77623	D	0.106371	0.77331	D	0.997147262096405	0.90872	D	0.974503	0.90930	D	0.80051655	0.83938	0.6960906	0.82106	0.80051655	0.83940	0.6960906	0.82107	-4.844	0.35100	T	.	.	0.858	0.81734	P	.;.	.;.	4.288525	0.65387	24.8	0.99862636859503739	0.94093	0.98843	0.87588	D	AEFDBI	0.912368	0.87290	D	0.687535798205049	0.78817	6.948311	0.629800101749989	0.77112	6.617432	0.999999708757075	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.613276	0.41899	0	.	.	5.79	5.79	0.91751	9.085000	0.93471	.	.	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.574000	0.30748	1.0:0.0:0.0:0.0	14.112	0.64655	432	0.80690	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1078.98	49	chr19	19545520	.	A	G	1078.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.145e+00;DP=932;ExcessHet=0.0000;FS=4.241;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=0.227;SOR=0.547	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,105,1575	20	0	1	0
chr19	19629977	19629977	C	T	exonic	GMIP	.	nonsynonymous SNV	GMIP:NM_001288998:exon20:c.G2812A:p.E938K	.	.	.	.	.	.	.	.	.	.	.	2211585	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.999	D	0.959	D	0.001	N	0.640	N	0.895	L	1.86	T	-1.014	T	0.089	T	0.52	4.204	21.8	3.58	2.287	3.371	11.012	0.127	0.0137029050972	0.0002	0.000199681	7.216e-05	0.0001	0	0	0	2.116e-05	0	0.0003	4.53e-05	7	154602	rs151053786	2.403e-05	2.394e-05	1.775e-05	3.038e-05	0.0005	1.745e-05	1.544e-05	0.0001	7.586e-05	8.969e-05	0	0	2.527e-05	0	0.0005	1.351e-05	3.322e-05	0.0001	4.597e-05	4.593e-05	3.854e-05	5.373e-05	0.0002	2.108e-05	1.526e-05	3.243e-05	1.91e-05	9.623e-05	0	0	0	0	0	0	2.941e-05	0	0.0002	0.0	0.91255	D	0.112	0.37449	T	0.999	0.77913	D	0.959	0.70163	D	0.001367	0.39242	N	0.000000	0.64043	0.30620	N	1.845	0.48678	L	1.86	0.25018	T	-0.08	0.08187	N	0.233	0.46368	-1.0135	0.25816	T	0.089	0.34271	T	10	0.10396734	0.19141	T	0.013703	0.33301	T	0.127	0.34888	.	.	0.501940320817	0.49831	0.47039149095492294	0.46958	0.573740725089	0.53422	0.566750884056	0.48219	T	0.009234	0.08422	T	-0.261369	0.12740	T	-0.328502	0.41635	T	0.155622714624975	0.17542	T	0.794021	0.43594	T	0.07952699	0.18172	0.15896401	0.37097	0.07952699	0.18171	0.15896401	0.37096	-5.91	0.46969	T	.	.	0.074	0.08851	B	.;.	.;.	4.228690	0.64023	24.7	0.99892436676358609	0.96589	0.84895	0.43989	D	AEFDBHCI	0.216673	0.34189	N	0.243956916290664	0.53340	3.50337	0.155056186014813	0.47411	2.971682	0.999915777167327	0.45857	0.712529	0.81865	0	0.702456	0.74545	0	0.779548	0.98927	0	0.691587	0.68394	0	.	.	3.58	3.58	0.40133	3.397000	0.52317	.	.	0.599000	0.40250	0.982000	0.35529	1.000000	0.68203	0.341000	0.25455	0.0:1.0:0.0:0.0	11.012	0.46885	437	0.80299	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	668.98	34	chr19	19629977	.	C	T	668.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.534;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.42;ReadPosRankSum=0.726;SOR=0.634	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1106	20	0	1	0
chr19	19630226	19630240	GCTGGTGGGTTACAG	-	exonic	GMIP	.	nonframeshift deletion	GMIP:NM_001288998:exon20:c.2549_2563del:p.P850_Q854del	.	.	416	1085	21	0	0	21	0.00958466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.000798722	0.0007	0.0002	0.0004	0	0	0.0004	0	0.0040	0.0001153	3	26028	rs376598348	0.0007	0.0007	0.0005	0.0008	0.0070	0.0006	0.0006	0.0053	0.0047	0.0008	0.0009	0.0008	0	0	0.0070	0.0004	0.0012	0.0039	0.0006	0.0006	0.0005	0.0007	0.0027	0.0005	0.0005	0.0016	0.0013	0.0003	0	0.0012	0.0014	0	0	0.0102	0.0006	0.0009	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1132.94	34	chr19	19630225	.	AGCTGGTGGGTTACAG	A	1132.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.571;DP=785;ExcessHet=0.0000;FS=2.108;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.43;ReadPosRankSum=0.434;SOR=0.991	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1106	20	0	1	0
chr19	19635648	19635648	G	T	exonic	GMIP	.	nonsynonymous SNV	GMIP:NM_016573:exon14:c.C1401A:p.D467E,	.	.	406	1080	35	1	0	37	0.0168411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.91	T	0.998	D	0.899	P	0.001	D	1.000	D	0.66	N	2.06	T	-1.017	T	0.045	T	0.139	0.359	5.949	0.513	0.090	0.130	7.225	0.102	.	0.0010	0.00519169	0.0048	9.61e-05	0.0009	0.0002	0.0012	0.0018	0.0077	0.0261	0.0041849	647	154602	rs141198269	0.0026	0.0026	0.0018	0.0033	0.0247	0.0025	0.0025	0.0238	0.0235	2.987e-05	0.0010	0.0076	5.038e-05	0.0009	0.0080	0.0010	0.0030	0.0247	0.0017	0.0017	0.0013	0.0021	0.0222	0.0015	0.0014	0.0188	0.0175	0.0002	0	0.0012	0.0072	0	0.0009	0.0034	0.0012	0.0014	0.0222	0.75	0.03587	T	0.0	0.92824	D	0.998	0.73220	D	0.899	0.63802	P	0.000916	0.41128	D	0.000000	0.964895	0.81001	D	1.475	0.37068	L	2.06	0.20523	T	-0.79	0.21860	N	0.067	0.03956	-1.0170	0.24690	T	0.045	0.19356	T	10	0.006407529	0.00145	T	.	.	.	0.102	0.29158	0.187	0.09646	0.404733080969	0.40085	0.3468900445969443	0.34603	0.873673126028	0.69486	0.513045012951	0.40648	T	0.029571	0.21161	T	-0.584628	0.00181	T	-0.59363	0.13354	T	0.0327127017805036	0.02424	T	0.534247	0.17838	T	0.06920902	0.15142	0.03692319	0.03239	0.06920902	0.15142	0.03692319	0.03238	-1.025	0.01027	T	.	.	0.133	0.28721	B	.	.	2.211830	0.28218	17.72	0.98102960630547464	0.38286	0.44499	0.27332	N	AEFDBCI	0.058329	0.10935	N	-0.124031639927003	0.36347	2.099781	-0.153208107527142	0.33286	1.902394	0.998886779435873	0.37891	0.722319	0.85440	0	0.698795	0.70079	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.01	0.513	0.16200	0.252000	0.18046	.	.	0.672000	0.70159	0.997000	0.40164	0.999000	0.35428	0.998000	0.85391	0.3952:0.0:0.6048:0.0	7.225	0.25183	437	0.80299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1318.98	35	chr19	19635648	.	G	T	1318.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.40;DP=839;ExcessHet=0.0000;FS=1.734;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.66;ReadPosRankSum=-1.243e+00;SOR=0.986	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1235	20	0	1	0
chr19	19794852	19794852	T	A	exonic	ZNF506	.	nonsynonymous SNV	ZNF506:NM_001145404:exon3:c.A939T:p.E313D	.	.	428	1071	21	2	0	25	0.0115367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.895	P	0.888	P	.	.	1.000	N	0.6	N	3.19	T	-1.010	T	0.013	T	0.021	2.446	14.14	-0.169	0.363	-0.995	3.973	0.054	.	0.0071	0.00519169	0.0027	0.0186	0.0007	0	0.0002	0.0008	0.0033	0.0048	0.0024967	386	154602	rs146885601	0.0011	0.0011	0.0010	0.0012	0.0210	0.0011	0.0010	0.0197	0.0192	0.0210	0.0015	0.0018	0	3.747e-05	0.0101	0.0002	0.0024	0.0047	0.0053	0.0053	0.0053	0.0052	0.0173	0.0050	0.0048	0.0163	0.0158	0.0173	0	0.0017	0.0014	0.0002	9.42e-05	0.0170	0.0003	0.0043	0.0031	0.008	0.59928	D	0.046	0.50226	D	0.895	0.49247	P	0.888	0.63021	P	.	.	.	.	0.999999	0.58761	D	0.78	0.19475	N	3.19	0.07353	T	-2.78	0.58896	D	0.055	0.09914	-1.0095	0.27074	T	0.013	0.05273	T	9	0.006626934	0.00150	T	.	.	.	0.054	0.15330	0.445	0.50302	0.480497669815	0.47680	0.02134446995054243	0.02087	0.132410911417	0.14924	0.271884411573	0.06388	T	0.016132	0.13395	T	-0.731187	0.00023	T	-0.80814	0.01707	T	0.0547203949769761	0.06311	T	0.777822	0.41150	T	0.18308175	0.39558	0.15170377	0.35725	0.18308175	0.39558	0.15170377	0.35724	-6.299	0.49610	T	.	.	0.188	0.41648	B	.;.;.	.;.;.	1.594877	0.20394	14.73	0.99559090003100037	0.71645	0.02908	0.07708	N	AEFBI	0.033522	0.03996	N	-0.804653038722503	0.13191	0.6481181	-0.997437866733296	0.09843	0.4920625	0.00175268107386836	0.08850	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.491896	0.07777	0	.	.	1.01	-0.169	0.12685	-4.315000	0.00290	.	.	0.476000	0.22017	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.2814:0.0:0.7186	3.973	0.08954	721	0.55360	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1508.98	34	chr19	19794852	.	T	A	1508.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.627e+00;DP=804;ExcessHet=0.0000;FS=1.514;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=-1.930e-01;SOR=0.520	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1227	20	0	1	0
chr19	19892100	19892100	A	C	exonic	ZNF253	.	nonsynonymous SNV	ZNF253:NM_001331134:exon2:c.A625C:p.K209Q	.	.	428	1087	5	2	0	9	0.00412277	.	.	2397650	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.935	P	0.545	P	.	.	1.000	N	1.84	L	.	.	-1.033	T	0.090	T	0.08	0.768	8.062	0.876	0.251	-4.536	2.921	0.024	0.00567467081579	.	0.000199681	0.0002	0	0.0003	0	0	0.0001	0.0011	0.0011	0.000194	30	154602	rs187512338	0.0001	0.0001	0.0001	0.0002	0.0035	0.0001	0.0001	0.0023	0.0019	5.974e-05	8.946e-05	0	0	0	0.0035	3.237e-05	0.0002	0.0016	0.0001	0.0001	6.424e-05	0.0002	0.0014	7.085e-05	5.742e-05	0.0007	0.0005	2.405e-05	0	0	0	0	0	0.0102	7.35e-05	0.0005	0.0014	.	.	.	0.048	0.52060	D	0.935	0.52277	P	0.545	0.49043	P	.	.	.	.	1	0.08975	N	1.655	0.42436	L	0.38	0.57575	T	.	.	.	0.075	0.05799	-1.0332	0.19427	T	0.090	0.34683	T	7	0.015888035	0.00334	T	0.005675	0.14681	T	0.024	0.04979	.	.	0.173771789658	0.16945	0.007938133792926001	0.00758	0.543497612951	0.51426	0.320516884327	0.13500	T	0.188357	0.54224	T	-0.546321	0.00307	T	-0.592907	0.13415	T	0.0741419968192751	0.09221	T	0.030397	0.00190	T	0.27340212	0.50407	0.13585807	0.32517	0.27340212	0.50407	0.13585807	0.32517	-7.203	0.55503	T	.	.	0.194	0.41480	B	.;.	.;.	2.239256	0.28593	17.85	0.88696181030245036	0.18182	0.00013	0.00170	N	AEFBHCI	0.021877	0.01026	N	-0.656725849229931	0.17265	0.8869186	-0.907151032703557	0.11925	0.6104944	0.00190466313171431	0.08993	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	0.876	0.876	0.18274	-0.635000	0.05568	.	.	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.091000	0.17840	0.6686:0.0:0.3314:0.0	2.921	0.05416	940	0.13648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1497.98	33	chr19	19892100	.	A	C	1497.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.52;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.05;ReadPosRankSum=-8.530e-01;SOR=0.672	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1167	20	0	1	0
chr19	20198071	20198071	G	T	exonic	ZNF486	.	nonsynonymous SNV	ZNF486:NM_052852:exon4:c.G1361T:p.R454I,	.	.	423	1093	6	0	0	6	0.00273723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.001	B	0.002	B	.	.	0.992	D	2.03	M	2.92	T	-1.057	T	0.025	T	0.198	-0.018	3.923	-0.442	0.192	-1.524	3.383	0.032	0.00112615754746	.	0.000798722	6.178e-05	0	0.0008	0	0	0	0	0	0.0001358	21	154602	rs546556139	9.229e-05	9.303e-05	7.805e-05	0.0001	0.0029	7.945e-05	7.416e-05	0.0025	0.0023	0.0001	0.0029	0	0	0	0	9.034e-07	6.665e-05	0	0.0011	0.0011	0.0007	0.0015	0.0108	0.0010	0.0009	0.0095	0.0090	4.815e-05	0	0.0108	0	0	0	0	0	0	0	0.323	0.13436	T	0.232	0.24987	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	0.992375	0.41628	D	2.085	0.57729	M	2.92	0.09915	T	-0.57	0.17210	N	0.175	0.18784	-1.0569	0.12543	T	0.025	0.10464	T	9	0.0068361163	0.00155	T	0.001126	0.01360	T	0.032	0.07718	0.624	0.75916	0.0986583533028	0.09354	0.01058962253952583	0.01019	0.00177889787293	0.00149	0.24459785223	0.03220	T	0.004021	0.03433	T	-0.608304	0.00130	T	-0.650554	0.08915	T	0.0244065184013429	0.01196	T	0.458954	0.13262	T	0.03534747	0.04144	0.03524559	0.02741	0.03534747	0.04144	0.03524559	0.02740	-4.674	0.33088	T	.	.	0.091	0.13127	B	.	.	-0.345811	0.02423	0.273	0.81839915397405882	0.13887	0.04544	0.10180	N	AEFBHCI	0.036649	0.04916	N	-0.836196919353042	0.12392	0.6037711	-0.909003614812255	0.11881	0.6080216	8.96675411636681E-6	0.01202	0.660377	0.49826	0	0.588015	0.36545	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	0.85	-0.442	0.11641	-0.353000	0.07740	.	.	-0.642000	0.04431	0.000000	0.06391	0.000000	0.08366	0.032000	0.13371	0.6429:0.0:0.3571:0.0	3.383	0.06840	958	0.09170	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1373.98	34	chr19	20198071	.	G	T	1373.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.988e+00;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.02;ReadPosRankSum=-3.270e-01;SOR=0.723	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1208	20	0	1	0
chr19	20624371	20624371	G	0	exonic	ZNF626	.	.	.	.	.	798	89	186	378	71	1013	0.841071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8929	18756.49	70	chr19	20624371	.	G	GA,*	18756.49	.	AC=11,14;AF=0.393,0.500;AN=28;BaseQRankSum=0.690;DP=1784;ExcessHet=0.5115;FS=0.701;InbreedingCoeff=0.3000;MLEAC=15,19;MLEAF=0.536,0.679;MQ=58.42;MQRankSum=-3.529e+00;QD=16.03;ReadPosRankSum=1.59;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:75,0,0:75:0:.:.:0,0,0,0,0,0	0	4	3	7
chr19	20624379	20624379	C	0	exonic	ZNF626	.	.	.	.	.	805	84	185	376	72	1009	0.847964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8929	18081.55	70	chr19	20624379	.	C	T,*	18081.55	.	AC=11,14;AF=0.393,0.500;AN=28;BaseQRankSum=-4.660e-01;DP=1782;ExcessHet=0.5115;FS=0.686;InbreedingCoeff=0.3000;MLEAC=15,19;MLEAF=0.536,0.679;MQ=58.41;MQRankSum=-3.245e+00;QD=15.23;ReadPosRankSum=-4.350e-01;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:75,0,0:75:0:.:.:0,0,0,0,0,0	0	4	3	7
chr19	20624804	20624804	G	C	exonic	ZNF626	.	nonsynonymous SNV	ZNF626:NM_001076675:exon4:c.C1073G:p.T358R,	.	.	423	1030	69	0	0	69	0.0324096	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.049	B	0.026	B	.	.	1.000	N	-0.515	N	.	.	-0.994	T	0.023	T	0.213	-2.109	0.006	-1.8	-0.794	-12.371	2.796	0.010	0.00052238757973	.	.	0.0029	0.0034	0.0017	0.0005	0.0015	0.0031	0.0022	0.0044	3.84e-05	1	26028	rs201684374	2.334e-05	0.0006	2.869e-05	1.794e-05	2.521e-05	1.68e-05	1.482e-05	3e-07	1.1e-07	0	0	3.839e-05	2.521e-05	0.0006	0	1.803e-06	0	1.162e-05	0.0005	0.0094	0.0004	0.0006	0.0009	0.0004	0.0004	0.0003	0.0003	0.0005	0.0036	0.0005	0.0003	0.0006	0.0005	0	0.0004	0.0010	0.0009	.	.	.	0.898	0.04587	T	0.049	0.22227	B	0.026	0.20792	B	.	.	.	.	1	0.08975	N	-1.33	0.00679	N	3.18	0.07478	T	.	.	.	0.078	0.05287	-0.9935	0.31696	T	0.023	0.09696	T	8	0.010496229	0.00233	T	5.22E-4	0.00174	T	.	.	.	.	0.124217242631	0.12060	0.014608698947642334	0.01417	0.253056736109	0.27872	.	.	.	0.00116	0.00668	T	-0.335464	0.05708	T	-0.719647	0.04813	T	0.0263409838080406	0.01452	T	0.0307969	0.00205	T	0.05529088	0.10726	0.041683216	0.04792	0.05529088	0.10725	0.041683216	0.04792	-5.04	0.37271	T	.	.	0.180	0.44201	B	.;.	.;.	-0.312537	0.02564	0.311	0.10407538250522598	0.00130	0.00409	0.02034	N	AEFBHCI	0.029335	0.02749	N	-2.04734225397827	0.00167	0.007157553	-2.12141737029828	0.00167	0.007357579	4.19159266624134E-6	0.01202	0.651	0.46895	0	0.588015	0.36545	0	0.65145	0.50148	0	0.620846	0.47308	0	.	.	0.898	-1.8	0.07480	-9.429000	0.00015	.	.	-0.591000	0.04649	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4716:0.2552:0.2732:0.0	2.796	0.05071	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05	453.8	150	chr19	20624804	.	G	C	453.8	.	AC=2;AF=0.050;AN=40;BaseQRankSum=3.17;DP=2963;ExcessHet=0.1072;FS=15.904;InbreedingCoeff=-0.0633;MLEAC=2;MLEAF=0.050;MQ=58.80;MQRankSum=-4.323e+00;QD=1.79;ReadPosRankSum=0.994;SOR=2.055	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:151,0:151:99:.:.:0,120,1800	18	0	2	1
chr19	20624831	20624831	G	T	exonic	ZNF626	.	nonsynonymous SNV	ZNF626:NM_001076675:exon4:c.C1046A:p.A349D,	.	.	431	1026	65	0	0	65	0.0307038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.35	B	0.521	P	.	.	1.000	N	2	M	.	.	-0.798	T	0.160	T	0.137	1.212	9.921	-0.351	0.284	-0.266	2.164	0.053	0.0029372711923	.	.	0.0007	0.0012	0.0005	0.0001	0.0002	0.0008	0.0011	0.0004	.	.	.	rs200037994	5.483e-06	0.0004	6.82e-06	4.133e-06	2.521e-05	2.36e-06	1.71e-06	.	.	0	0	0	2.521e-05	0.0001	0	0	0	0	0.0003	0.0086	0.0002	0.0004	0.0008	0.0002	0.0002	0.0003	0.0002	0.0004	0.0012	0.0003	0.0003	0.0008	0.0002	0	0.0002	0.0010	0.0004	.	.	.	0.028	0.63109	D	0.35	0.33644	B	0.521	0.48239	P	.	.	.	.	1	0.08975	N	1.76	0.45711	L	1.26	0.36330	T	.	.	.	0.083	0.06990	-0.7977	0.55280	T	0.160	0.49413	T	8	0.047144234	0.03994	T	0.002937	0.06250	T	.	.	.	.	0.379881503574	0.37595	0.016107731133111286	0.01566	0.344841452812	0.36407	.	.	.	0.030734	0.21715	T	-0.280055	0.10662	T	-0.640056	0.09664	T	0.143846975603257	0.16602	T	0.0109989	0.00062	T	0.5628548	0.70667	0.3956977	0.64231	0.5628548	0.70668	0.3956977	0.64231	-8.255	0.62794	D	.	.	0.468	0.63076	A	.;.	.;.	1.739355	0.22131	15.49	0.97389007560457919	0.33711	0.02848	0.07604	N	AEFBHCI	0.039414	0.05722	N	-0.725798739957691	0.15299	0.7697871	-0.964231783067838	0.10595	0.5346012	1.29106194834359E-6	0.01202	0.651	0.46895	0	0.588015	0.36545	0	0.65145	0.50148	0	0.620846	0.47308	0	.	.	0.898	-0.351	0.11976	-2.347000	0.01175	.	.	-0.672000	0.04293	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.3015:0.3473:0.3512:0.0	2.164	0.03599	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	414.11	150	chr19	20624831	.	G	T	414.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.26;DP=2918;ExcessHet=0.1072;FS=21.280;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.99;MQRankSum=-4.476e+00;QD=1.60;ReadPosRankSum=-2.217e+00;SOR=2.387	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:151,0:151:99:.:.:0,120,1800	19	0	2	0
chr19	20805922	20805922	C	T	exonic	ZNF66	.	nonsynonymous SNV	ZNF66:NM_001355197:exon4:c.C322T:p.H108Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000876972273125	.	.	1.862e-05	0	8.87e-05	0	0	0	0	0.0001	1.29e-05	2	154602	rs778251510	4.779e-05	3.748e-05	5.348e-05	4.285e-05	0.0024	3.278e-05	2.77e-05	0.0013	0.0010	0	3.852e-05	0	0	0	0.0024	2.607e-05	0.0001	8.527e-05	1.972e-05	1.97e-05	2.572e-05	1.345e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0.0034	0	0.0005	0.0002	.	.	.	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.55	0.04746	T	.	.	.	0.104	0.08786	.	.	.	.	.	.	.	0.062149644	0.07903	T	8.77E-4	0.00800	T	.	.	.	.	0.0611884634855	0.05136	0.003773538863635719	0.00353	.	.	.	.	.	0.058776	0.30933	T	-0.534399	0.00362	T	-0.8195	0.01463	T	.	.	.	0.218178	0.02774	T	0.02568107	0.01533	0.051763605	0.08396	0.02568107	0.01533	0.051763605	0.08396	-7.416	0.57017	T	.	.	0.068	0.02861	B	.	.	-0.434738	0.02086	0.194	0.37619129559734937	0.02490	0.00806	0.03275	N	AEFBCI	0.016429	0.00369	N	.	.	.	.	.	.	0.00282644406745973	0.09733	0.651	0.46895	0	0.588066	0.40923	0	0.65145	0.50148	0	0.620846	0.47308	0	.	.	1.06	-2.12	0.06766	-3.027000	0.00703	.	.	-1.734000	0.00710	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2717:0.0:0.7283	4.974	0.13479	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2170.98	129	chr19	20805922	.	C	T	2170.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.539e+00;DP=1883;ExcessHet=0.0000;FS=11.161;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=-1.390e+00;SOR=0.807	GT:AD:DP:GQ:PL	0/0:136,0:136:99:0,120,1800	20	0	1	0
chr19	20807170	20807170	C	G	exonic	ZNF66	.	nonsynonymous SNV	ZNF66:NM_001355197:exon4:c.C1570G:p.L524V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00231894324086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.64	0.52867	T	.	.	.	0.231	0.25989	.	.	.	.	.	.	.	0.24506891	0.41748	T	0.002319	0.04479	T	.	.	.	.	0.693223118719	0.69058	0.0021901453210445396	0.00203	.	.	.	.	.	0.093551	0.39234	T	-0.210353	0.19329	T	-0.539934	0.18304	T	.	.	.	0.580242	0.20999	T	0.021028632	0.00686	0.05955618	0.11196	0.021028632	0.00685	0.05955618	0.11195	-7.484	0.57498	T	.	.	0.188	0.40506	B	.	.	1.261587	0.16596	12.64	0.99443778198886845	0.64921	0.12573	0.17351	N	AEFBHCI	0.034603	0.04314	N	.	.	.	.	.	.	2.26947898014672E-5	0.03498	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.564101	0.26826	0	.	.	1.44	1.44	0.21647	0.587000	0.23611	.	.	-0.744000	0.03643	0.104000	0.22875	0.000000	0.08366	0.001000	0.02609	0.0:1.0:0.0:0.0	8.358	0.31504	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	796.98	80	chr19	20807170	.	C	G	796.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.229e+00;DP=1359;ExcessHet=0.0000;FS=1.932;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.07;ReadPosRankSum=-2.687e+00;SOR=0.957	GT:AD:DP:GQ:PL	0/0:98,0:98:99:0,120,1800	20	0	1	0
chr19	20950131	20950132	AT	-	exonic	ZNF85	.	stopgain	ZNF85:NM_001256173:exon3:c.1425_1426del:p.C476*	.	.	443	1072	7	0	0	7	0.0032543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0002	0.0001	0.0003	0	0	0.0002	0	0.0005	0.0001617	25	154602	rs745640042	0.0002	0.0002	0.0001	0.0002	0.0028	0.0001	0.0001	0.0017	0.0014	0.0001	8.951e-05	0.0002	0	0	0.0028	0.0001	0.0004	0.0009	0.0001	0.0001	7.812e-05	0.0001	0.0004	6.603e-05	5.396e-05	0.0001	7.965e-05	4.915e-05	0	0	0	0	0	0	0.0002	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2568.94	78	chr19	20950130	.	CAT	C	2568.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.243e+00;DP=982;ExcessHet=0.0000;FS=1.371;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.17;ReadPosRankSum=-5.600e-01;SOR=0.883	GT:AD:DP:GQ:PL	0/1:67,67:134:99:2583,0,2565	20	0	1	0
chr19	21056918	21056918	C	T	exonic	ZNF430	.	nonsynonymous SNV	ZNF430:NM_001172671:exon5:c.C607T:p.P203S	.	.	431	1079	11	1	0	13	0.00598802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.082	B	0.026	B	.	.	0.839	N	1.455	L	1.61	T	-1.017	T	0.050	T	0.092	0.378	6.054	-2.09	-0.530	-0.892	2.777	0.005	0.0012792000576	0.0003	0.000998403	0.0016	0.0001	0.0002	0.0002	0.0002	0.0010	0.0011	0.0070	0.0013842	214	154602	rs7256437	0.0010	0.0010	0.0008	0.0012	0.0064	0.0009	0.0009	0.0060	0.0058	2.994e-05	0.0003	0	0.0002	9.367e-05	0.0023	0.0007	0.0008	0.0064	0.0006	0.0006	0.0006	0.0006	0.0048	0.0005	0.0005	0.0033	0.0028	0.0001	0	0	0	0.0002	9.423e-05	0	0.0009	0	0.0048	0.15	0.24661	T	0.145	0.33000	T	0.082	0.24665	B	0.026	0.20792	B	.	.	.	.	0.838763	0.28660	N	1.895	0.50365	L	1.61	0.28391	T	-3.57	0.68999	D	0.149	0.15187	-1.0173	0.24592	T	0.050	0.21456	T	9	0.008356005	0.00189	T	0.001279	0.01759	T	0.005	0.00259	.	.	0.0297737177859	0.01360	0.012166240733161061	0.01175	0.139298822938	0.15699	0.242090597749	0.02981	T	0.080619	0.36406	T	-0.640936	0.00082	T	-0.690547	0.06358	T	0.00829786027620292	0.00100	T	0.0383962	0.00265	T	0.06459335	0.13721	0.12360636	0.29804	0.06459335	0.13721	0.12360636	0.29804	-4.202	0.26780	T	.	.	0.133	0.28750	B	.	.	-0.109836	0.03584	0.697	0.47525260264423635	0.03893	0.01620	0.05236	N	AEFBI	0.026657	0.02041	N	-1.32880055363593	0.03350	0.1494875	-1.4859767581626	0.02459	0.1131281	6.28953257013217E-4	0.07482	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	1.04	-2.09	0.06831	0.045000	0.13898	.	.	-0.353000	0.05553	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2678:0.505:0.0:0.2272	2.777	0.05022	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.09524	7723.9	35	chr19	21056918	.	C	T	7723.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.52;DP=1087;ExcessHet=0.0082;FS=0.535;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=17.63;ReadPosRankSum=0.074;SOR=0.752	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,110,1784	18	1	2	0
chr19	21294056	21294056	C	T	exonic	ZNF708	.	nonsynonymous SNV	ZNF708:NM_001297561:exon3:c.G718A:p.G240R	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.988	D	0.882	P	.	.	0.940	D	1.085	L	4.72	T	-0.847	T	0.011	T	0.194	2.279	13.58	1.05	0.482	1.508	8.969	0.064	0.00549881779273	0.0006	0.000798722	0.0003	0	0.0002	0	0	0.0006	0	6.072e-05	0.0003169	49	154602	rs149735807	0.0002	0.0002	0.0002	0.0003	0.0005	0.0002	0.0002	0.0002	0.0002	2.987e-05	0.0002	0.0021	0	5.626e-05	0.0005	0.0002	0.0006	4.638e-05	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0003	0.0002	0	0	0.0005	0.0020	0	0	0.0034	0.0004	0	0	0.073	0.34800	T	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	0.939766	0.37273	D	.	.	.	4.72	0.01636	T	-6.15	0.90178	D	0.089	0.06720	-0.8472	0.52161	T	0.011	0.04227	T	9	0.0107342005	0.00238	T	0.005499	0.14166	T	0.064	0.18567	.	.	0.392702134506	0.38879	0.00874755388557587	0.00838	0.289424696162	0.31356	0.317550301552	0.13049	T	.	.	.	-0.468962	0.00863	T	-0.579344	0.14603	T	0.183333203196526	0.19443	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.47371	B	.	.	1.352083	0.17601	13.26	0.99643491983389476	0.76819	0.11321	0.16556	N	AEFBI	0.064688	0.12576	N	-0.194409031529955	0.33366	1.892194	-0.396968993999043	0.25087	1.377576	2.92481016029676E-4	0.06406	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.05	1.05	0.19280	1.238000	0.32310	.	.	0.531000	0.24825	0.001000	0.13787	0.000000	0.08366	0.009000	0.08673	0.0:1.0:0.0:0.0	8.969	0.35055	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1592.98	34	chr19	21294056	.	C	T	1592.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.039;DP=923;ExcessHet=0.0000;FS=3.038;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=0.068;SOR=0.903	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr19	21378656	21378656	C	T	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355240:exon5:c.C347T:p.P116L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	.	.	.	.	.	.	1.000	N	.	.	5.8	T	-0.919	T	0.002	T	0.05	-0.272	2.696	-0.298	-1.083	-1.394	.	0.007	0.000531136865176	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1035869241	7.926e-05	7.475e-05	8.014e-05	7.865e-05	0.0007	5.021e-05	4.139e-05	4.471e-05	3.346e-05	0	0	0	0	0	0.0007	8.674e-05	0.0002	0.0001	0.0001	0.0001	9.124e-05	0.0002	0.0002	9.911e-05	8.401e-05	0.0001	0.0001	4.923e-05	0	6.692e-05	0	0	0.0001	0	0.0002	0.0010	0.0002	0.238	0.17821	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.8	0.00668	T	-0.95	0.25332	N	0.109	0.09490	-0.9188	0.45716	T	0.002	0.00769	T	5	0.052625358	0.05326	T	5.31E-4	0.00185	T	0.007	0.00512	0.365	0.37199	0.0551355673512	0.04727	.	.	.	.	.	.	.	.	.	.	-0.618714	0.00112	T	-0.800575	0.01888	T	0.0123674543574452	0.00202	T	0.348865	0.07732	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.16756	B	.	.	0.231895	0.06131	2.576	0.79736903243951229	0.12877	0.00023	0.00238	N	AEFBI	0.012508	0.00138	N	-1.16661064477438	0.05512	0.2514697	-1.41637388794544	0.03088	0.143367	2.05592568275375E-5	0.02871	0.634777	0.41761	0	0.653731	0.59785	0	0.643519	0.47002	0	0.491896	0.07777	0	.	.	0.149	-0.298	0.12179	0.067000	0.14378	.	.	-0.641000	0.04447	0.001000	0.13787	0.001000	0.17328	0.001000	0.02609	.	.	.	988	0.01987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	158.34	28	chr19	21378656	.	C	T	158.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.717;DP=506;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=7.92;ReadPosRankSum=0.618;SOR=0.818	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,555	19	0	1	1
chr19	21383191	21383191	G	A	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.G645A:p.M215I,	.	.	525	981	16	0	0	16	0.00808898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs910428921	1.384e-06	0.0003	0	2.783e-06	2.276e-05	2.3e-07	9e-08	.	.	0	2.276e-05	0	0	0	0	9.092e-07	0	0	0	0.0038	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1507.17	46	chr19	21383191	.	G	A	1507.17	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-1.034e+00;DP=1693;ExcessHet=1.1607;FS=5.964;InbreedingCoeff=-0.1507;MLEAC=5;MLEAF=0.125;MQ=59.03;MQRankSum=-1.079e+01;QD=1.91;ReadPosRankSum=-1.253e+00;SOR=1.349	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,13:159:99:0|1:21383168_A_G:106,0,6091:21383168	15	0	5	1
chr19	21383196	21383196	T	C	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.T650C:p.L217S,	.	.	531	981	10	0	0	10	0.00507099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380787073	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.719e-06	0.0012	1.31e-05	0	1.497e-05	0	0	.	.	0	0	0	0	0	0	0	1.497e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1201.17	46	chr19	21383196	.	T	C	1201.17	.	AC=5;AF=0.125;AN=40;BaseQRankSum=1.03;DP=1683;ExcessHet=1.1607;FS=6.327;InbreedingCoeff=-0.1507;MLEAC=5;MLEAF=0.125;MQ=59.06;MQRankSum=-1.086e+01;QD=1.53;ReadPosRankSum=-1.685e+00;SOR=1.443	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,13:159:99:0|1:21383168_A_G:106,0,6091:21383168	15	0	5	1
chr19	21383203	21383203	-	ACTC	exonic	ZNF738	.	frameshift insertion	ZNF738:NM_001355237:exon5:c.657_658insACTC:p.G220Tfs*5,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1434000702	0	5.341e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	0.0004	1.286e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	651.89	46	chr19	21383203	.	A	AACTC	651.89	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.261;DP=1551;ExcessHet=0.6776;FS=5.243;InbreedingCoeff=-0.1054;MLEAC=4;MLEAF=0.095;MQ=59.17;MQRankSum=-1.177e+01;QD=1.02;ReadPosRankSum=-1.741e+00;SOR=1.440	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,12:152:82:0|1:21383168_A_G:82,0,5842:21383168	17	0	4	0
chr19	21383206	21383209	TCAA	-	exonic	ZNF738	.	frameshift deletion	ZNF738:NM_001355237:exon5:c.660_663del:p.Q221Ifs*3,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310884774	0	4.382e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.714e-06	0.0004	1.31e-05	0	1.494e-05	0	0	.	.	0	0	0	0	0	0	0	1.494e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	617.28	46	chr19	21383205	.	GTCAA	G	617.28	.	AC=4;AF=0.100;AN=40;BaseQRankSum=4.39;DP=1537;ExcessHet=0.6776;FS=5.203;InbreedingCoeff=-0.1204;MLEAC=4;MLEAF=0.100;MQ=59.20;MQRankSum=-1.168e+01;QD=0.97;ReadPosRankSum=-1.938e+00;SOR=1.383	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,11:153:34:0|1:21383168_A_G:34,0,5929:21383168	16	0	4	1
chr19	21383393	21383393	G	0	exonic	ZNF738	.	.	.	.	.	617	630	79	26	170	301	0.0941769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	2164.49	46	chr19	21383393	.	G	T,*	2164.49	.	AC=3,3;AF=0.071,0.071;AN=42;BaseQRankSum=0.252;DP=1021;ExcessHet=0.1217;FS=4.260;InbreedingCoeff=0.2222;MLEAC=3,3;MLEAF=0.071,0.071;MQ=59.82;MQRankSum=0.00;QD=6.66;ReadPosRankSum=0.637;SOR=0.514	GT:AD:DP:GQ:PL	0/0:50,0,0:50:99:0,120,1800,120,1800,1800	16	0	2	0
chr19	21383611	21383611	G	A	exonic	ZNF738	.	stopgain	ZNF738:NM_001355237:exon5:c.G1065A:p.W355X,	.	.	524	995	3	0	0	3	0.00150527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00239617	.	.	.	.	.	.	.	.	0.0039957	104	26028	rs147309910	0.0051	0.0048	0.0052	0.0050	0.0066	0.0049	0.0049	0.0064	0.0064	0.0015	0.0027	0.0001	0	0.0031	0.0020	0.0066	0.0046	0.0012	0.0042	0.0041	0.0047	0.0037	0.0069	0.0039	0.0038	0.0064	0.0062	0.0013	0	0.0031	0.0006	0	0.0041	0	0.0069	0.0060	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	939.98	46	chr19	21383611	.	G	A	939.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.976;DP=979;ExcessHet=0.0000;FS=1.624;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.13;ReadPosRankSum=1.07;SOR=0.495	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	20	0	1	0
chr19	21405835	21405835	A	G	exonic	ZNF493	.	nonsynonymous SNV	ZNF493:NM_001076678:exon3:c.A232G:p.S78G	.	.	497	1020	5	0	0	5	0.00244499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.001	B	0.003	B	.	.	1.000	N	-0.255	N	5.7	T	-0.946	T	0.008	T	0.131	-0.007	3.978	-2.27	-0.817	-0.709	2.256	0.014	0.00101507814385	0.0005	0.000199681	0.0006	0	0	0.0006	0	0.0008	0	0.0005	0.0005627	87	154602	rs139629271	0.0008	0.0008	0.0008	0.0009	0.0008	0.0008	0.0008	0.0008	0.0008	0	0.0001	0.0049	0.0003	0.0002	0.0005	0.0008	0.0010	0.0005	0.0006	0.0006	0.0006	0.0006	0.0012	0.0005	0.0005	0.0007	0.0006	4.864e-05	0	0.0003	0.0040	0.0012	0	0	0.0009	0.0010	0.0004	0.316	0.41915	T	0.103	0.49663	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	5.58	0.06445	T	-1.67	0.45042	N	0.132	0.14480	-0.9462	0.41615	T	0.008	0.02679	T	9	0.0076075494	0.00173	T	0.001015	0.01096	T	0.014	0.01968	.	.	0.0401082797425	0.02173	0.006762927482861741	0.00643	0.0172856146283	0.01676	0.355219602585	0.18688	T	.	.	.	-0.59519	0.00156	T	-0.730815	0.04291	T	0.00637228007168246	0.00071	T	0.259974	0.22664	T	.	.	.	.	.	.	.	.	0.927	0.00313	T	.	.	0.068	0.02960	B	.;.;.;.	.;.;.;.	0.512869	0.08815	5.595	0.64011227280780336	0.07377	0.00475	0.02270	N	AEFBI	0.026325	0.01955	N	-1.67893687762194	0.00919	0.03979802	-1.75961023268129	0.00897	0.04013182	2.38803004849035E-5	0.03498	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	1.13	-2.27	0.06458	-1.769000	0.01890	.	.	0.384000	0.20435	0.000000	0.06391	0.000000	0.08366	0.042000	0.14466	0.4509:0.3099:0.2392:0.0	2.256	0.03808	988	0.01987	Krueppel-associated box;.;Krueppel-associated box;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1440.98	33	chr19	21405835	.	A	G	1440.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=825;ExcessHet=0.0000;FS=6.197;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.34;ReadPosRankSum=-7.290e-01;SOR=1.322	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1032	20	0	1	0
chr19	21536638	21536638	T	A	exonic	ZNF429	.	nonsynonymous SNV	ZNF429:NM_001346916:exon3:c.T393A:p.H131Q	.	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.974	D	0.497	P	.	.	0.995	N	3.6	H	-2.44	D	-0.051	T	0.652	D	0.169	1.411	10.65	-0.371	-1.431	-1.329	6.079	0.299	0.00309283820574	0.0045	0.00219649	0.0041	0.0013	0.0020	0	0.0023	0.0064	0.0022	0.0010	0.0042626	659	154602	rs200113769	0.0059	0.0059	0.0059	0.0058	0.0071	0.0058	0.0057	0.0069	0.0069	0.0013	0.0031	7.656e-05	0	0.0026	0.0019	0.0071	0.0046	0.0013	0.0043	0.0043	0.0048	0.0038	0.0073	0.0040	0.0039	0.0068	0.0066	0.0013	0	0.0029	0.0006	0	0.0038	0	0.0073	0.0061	0.0008	0.011	0.55530	D	0.013	0.65728	D	0.974	0.57829	D	0.497	0.47562	P	.	.	.	.	0.995012	0.23391	N	2.935	0.84639	M	-2.44	0.88767	D	-5.69	0.87300	D	0.389	0.43029	-0.0513	0.81178	T	0.652	0.87893	D	9	0.006724328	0.00153	T	0.003093	0.06696	T	0.299	0.61955	0.767	0.89452	0.777867242166	0.77582	0.015973642570542054	0.01553	0.207944944611	0.23260	0.45930403471	0.33215	T	0.020338	0.16033	T	-0.368398	0.03676	T	-0.29795	0.44940	T	0.0816867275065418	0.10202	T	0.0864913	0.03000	T	0.254001	0.48425	0.31475633	0.57466	0.254001	0.48425	0.31475633	0.57465	-6.812	0.52648	T	.	.	0.222	0.62271	B	.;.	.;.	1.205308	0.15976	12.23	0.76990713843133651	0.11692	0.01443	0.04843	N	AEFBCI	0.069268	0.13702	N	-0.900326082026865	0.10834	0.519749	-1.26169966198927	0.04959	0.2352342	0.330136942020879	0.19477	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.564101	0.26826	0	.	.	0.185	-0.371	0.11902	-0.635000	0.05568	.	.	-0.919000	0.02208	0.000000	0.06391	0.000000	0.08366	0.135000	0.19760	0.0:0.6769:0.0:0.3231	6.079	0.19154	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1567.98	36	chr19	21536638	.	T	A	1567.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.17;DP=937;ExcessHet=0.0000;FS=1.386;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=1.03;SOR=0.664	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr19	21727323	21727323	G	T	exonic	ZNF100	.	stopgain	ZNF100:NM_001351672:exon3:c.C344A:p.S115X	.	.	425	1085	12	0	0	12	0.00549954	.	.	716327	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.446	10.78	-0.462	0.182	1.566	4.457	.	.	0.0092	0.00698882	0.0100	0.0025	0.0063	0.0104	0.0097	0.0131	0.0067	0.0044	0.0092625	1432	154602	rs138292237	0.0095	0.0095	0.0095	0.0095	0.0103	0.0094	0.0093	0.0102	0.0101	0.0016	0.0059	0.0087	0.0077	0.0094	0.0076	0.0103	0.0089	0.0053	0.0080	0.0081	0.0078	0.0083	0.0117	0.0077	0.0075	0.0110	0.0107	0.0017	0.0055	0.0100	0.0089	0.0058	0.0088	0.0204	0.0117	0.0076	0.0062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.047	0.01911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0213547	0.48661	T	0.206937	0.83504	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive|Recessive;.;.	High|High;.;.	5.462916	0.91186	32	0.9507162513408991	0.26113	0.00022	0.00232	N	AEFBHCI	0.023336	0.01287	N	0.0380137738482882	0.43592	2.649114	-0.303777568215613	0.27977	1.556343	2.9317240254234E-4	0.06406	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	0.841	-0.462	0.11560	-0.004000	0.12813	.	.	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4667:0.0:0.5333:0.0	4.457	0.11068	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	rs138292237	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1680.98	37	chr19	21727323	.	G	T	1680.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.490e-01;DP=1110;ExcessHet=0.0000;FS=7.446;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=-1.322e+00;SOR=0.457	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr19	21727423	21727423	C	A	exonic	ZNF100	.	nonsynonymous SNV	ZNF100:NM_001351672:exon3:c.G244T:p.A82S	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.479	P	0.517	P	.	.	0.998	N	-0.64	N	1.28	T	-1.004	T	0.051	T	0.114	0.319	5.729	0.907	0.292	-0.986	4.931	0.046	0.00261464069964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	1.368e-06	1.362e-06	0	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.028	0.58613	D	0.479	0.36725	P	0.517	0.48105	P	.	.	.	.	0.998161	0.22316	N	-1.145	0.00921	N	1.28	0.35960	T	-2.34	0.51811	N	0.039	0.04307	-1.0045	0.28607	T	0.051	0.21728	T	9	0.08298212	0.13754	T	0.002615	0.05292	T	0.046	0.12618	0.507	0.60232	0.165133752707	0.16062	0.007149742069901606	0.00681	0.0875372861277	0.09878	.	.	.	0.036371	0.24077	T	-0.293361	0.09301	T	-0.659169	0.08322	T	0.226895049752146	0.21802	T	0.0241976	0.00146	T	0.09494145	0.22334	0.08829593	0.20577	0.09494145	0.22334	0.08829593	0.20577	-7.318	0.56323	T	.	.	0.174	0.38062	B	.;.;.	.;.;.	1.673176	0.21327	15.15	0.98779411605469014	0.46112	0.00013	0.00170	N	AEFBHCI	0.029379	0.02763	N	-1.03278194239222	0.07929	0.3700688	-1.139596520674	0.06957	0.3366301	3.13695379137864E-4	0.06498	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	0.907	0.907	0.18450	-1.546000	0.02292	.	.	0.298000	0.18894	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.5626:0.4374:0.0:0.0	4.931	0.13271	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1420.98	37	chr19	21727423	.	C	A	1420.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.084e+00;DP=1080;ExcessHet=0.0000;FS=0.751;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.21;ReadPosRankSum=-9.930e-01;SOR=0.550	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr19	21727498	21727498	G	A	exonic	ZNF100	.	nonsynonymous SNV	ZNF100:NM_001351672:exon3:c.C169T:p.R57W	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.012	B	0.005	B	.	.	1.000	N	1.755	L	3.19	T	-0.956	T	0.019	T	0.127	-0.692	0.998	-0.462	0.182	-1.976	6.072	0.013	0.00154618356177	.	.	.	.	.	.	.	.	.	.	.	.	.	rs942974310	4.803e-06	6.16e-06	4.096e-06	5.517e-06	1.162e-05	2e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.51e-06	1.661e-05	1.162e-05	1.323e-05	1.319e-05	0	2.709e-05	4.851e-05	2.2e-06	8.2e-07	8.04e-06	3.01e-06	4.851e-05	0	0	0	0	0	0	0	0	0	0.515	0.07378	T	0.293	0.21745	T	0.012	0.16265	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	1.895	0.50365	L	3.19	0.07353	T	-3.42	0.67241	D	0.098	0.18512	-0.9555	0.40006	T	0.019	0.08126	T	9	0.10095686	0.18418	T	0.001546	0.02420	T	0.013	0.01715	0.419	0.46036	0.247322355667	0.24350	0.032548074061614855	0.03202	0.144453412496	0.16320	.	.	.	0.026285	0.19484	T	-0.34371	0.05135	T	-0.731492	0.04260	T	0.132450945221419	0.15607	T	0.0271973	0.00166	T	0.068870015	0.15040	0.05910033	0.11033	0.068870015	0.15039	0.05910033	0.11032	-7.27	0.55982	T	.	.	0.321	0.55713	B	.;.;.	.;.;.	1.073242	0.14556	11.12	0.62172183109236412	0.06895	0.00003	0.00079	N	AEFGBHCI	0.033868	0.04097	N	-0.920131630880718	0.10371	0.4953048	-0.97876150563404	0.10263	0.5157632	0.00125324914351865	0.08381	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	0.841	-0.462	0.11560	-4.364000	0.00281	.	.	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2435:0.0:0.7565:0.0	6.072	0.19119	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1551.98	37	chr19	21727498	.	G	A	1551.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=1090;ExcessHet=0.0000;FS=4.683;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.86;ReadPosRankSum=-3.440e-01;SOR=1.177	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr19	21971708	21971708	C	A	exonic	ZNF208	.	nonsynonymous SNV	ZNF208:NM_007153:exon4:c.G3326T:p.G1109V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.976	D	.	.	0.996	D	.	.	1.9	T	-0.948	T	0.117	T	0.156	2.275	13.56	-1.92	-0.328	1.164	5.139	0.074	0.00310008928599	.	.	8.39e-05	0	8.743e-05	0	0	0.0001	0	0	3.84e-05	1	26028	rs540259312	1.098e-05	0.0011	8.195e-06	1.38e-05	2.24e-05	6.5e-06	5.26e-06	7.34e-06	5.74e-06	0	2.24e-05	0	0	0	0	1.264e-05	1.659e-05	0	6.597e-06	0.0003	1.291e-05	0	1.476e-05	0	0	.	.	0	0	0	0	0	0	0	1.476e-05	0	0	0.049	0.39820	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	0.996444	0.43208	D	2.73	0.79844	M	1.9	0.23486	T	-5.71	0.87457	D	0.212	0.23632	-0.9475	0.41397	T	0.117	0.41165	T	8	0.19219097	0.34937	T	0.003	0.06726	T	0.074	0.21613	.	.	0.124217242631	0.12060	0.007946423955672913	0.00759	0.0269784543744	0.02755	0.414667844772	0.27102	T	0.08162	0.36641	T	-0.227463	0.16986	T	-0.564512	0.15957	T	0.987075865268707	0.77644	D	0.558744	0.19484	T	0.1069769	0.25296	0.1439092	0.34185	0.1069769	0.25296	0.1439092	0.34184	-9.451	0.70554	D	.	.	0.513	0.65181	A	.;.	.;.	1.092122	0.14757	11.30	0.97102117148538769	0.32370	0.21921	0.21570	N	AEFBHCI	0.069946	0.13866	N	-0.427654316107312	0.24503	1.323548	-0.725449524877662	0.16328	0.8632396	5.43145566571937E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.59	-1.92	0.07203	0.909000	0.28180	.	.	-1.957000	0.00479	0.025000	0.20085	0.000000	0.08366	0.000000	0.00833	0.0:0.61:0.1654:0.2246	5.139	0.14281	988	0.01987	Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	245.98	39	chr19	21971708	.	C	A	245.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.835e+00;DP=1761;ExcessHet=0.0000;FS=0.744;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.06;MQRankSum=-4.752e+00;QD=0.92;ReadPosRankSum=-4.794e+00;SOR=0.817	GT:AD:DP:GQ:PL	0/0:141,0:141:99:0,120,1800	20	0	1	0
chr19	21971982	21971982	C	G	exonic	ZNF208	.	nonsynonymous SNV	ZNF208:NM_007153:exon4:c.G3052C:p.E1018Q,	.	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.034	B	0.029	B	.	.	1.000	N	.	.	3.11	T	-0.909	T	0.006	T	0.069	-0.922	0.395	-1.69	-0.488	-4.164	7.821	0.002	.	7.9e-05	0.00279553	0.0008	0	0	0.0110	0	3e-05	0	0.0003	0.0006531	17	26028	rs147587683	0.0005	0.0005	0.0005	0.0004	0.0144	0.0004	0.0004	0.0135	0.0131	0	0	7.659e-05	0.0144	0	0.0012	3.688e-05	0.0003	0.0004	0.0004	0.0004	0.0003	0.0005	0.0109	0.0003	0.0003	0.0086	0.0077	0	0	6.713e-05	0	0.0109	0	0	2.994e-05	0	0.0004	0.528	0.07071	T	0.613	0.08052	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.26	0.03792	N	3.11	0.08194	T	0.18	0.05035	N	0.084	0.06059	-0.9086	0.47025	T	0.006	0.01981	T	8	0.0075612366	0.00172	T	.	.	.	0.002	0.00045	.	.	0.0611884634855	0.05136	0.004480461146775183	0.00421	0.00859954335189	0.00783	0.456201434135	0.32791	T	0.001562	0.01004	T	-0.758583	0.00015	T	-0.854467	0.00905	T	0.0113266873565474	0.00168	T	0.0191981	0.00194	T	0.04120666	0.06027	0.027584784	0.00922	0.04120666	0.06027	0.027584784	0.00922	-8.425	0.63931	D	.	.	0.184	0.39915	B	.;.	.;.	-0.869215	0.00978	0.039	0.10733587385434182	0.00143	0.01285	0.04481	N	AEFBHCI	0.030660	0.03130	N	-1.2968048760855	0.03714	0.1664003	-1.41793932087278	0.03072	0.1426226	1.68742427206965E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.45	-1.69	0.07747	-2.876000	0.00786	.	.	-1.231000	0.01326	0.000000	0.06391	0.001000	0.17328	0.000000	0.00833	0.0:0.5569:0.0:0.4431	7.821	0.28450	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2168.98	39	chr19	21971982	.	C	G	2168.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.26;DP=1675;ExcessHet=0.0000;FS=4.828;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.77;MQRankSum=1.55;QD=14.18;ReadPosRankSum=0.899;SOR=0.444	GT:AD:DP:GQ:PL	0/0:127,0:127:99:0,120,1800	20	0	1	0
chr19	22314444	22314444	A	G	exonic	ZNF729	.	nonsynonymous SNV	ZNF729:NM_001242680:exon4:c.A1027G:p.T343A,	.	.	430	1085	5	0	2	7	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	.	.	.	.	.	.	.	.	1.63	L	5.48	T	-0.968	T	0.005	T	0.21	0.307	5.664	-0.855	-0.618	2.523	4.317	0.086	0.00225949283744	.	.	0.0002	0.0001	0.0003	0	0.0002	0.0002	0	0	0.0001229	19	154602	rs764887966	0.0028	0.0041	0.0026	0.0030	0.0085	0.0027	0.0027	0.0078	0.0075	0.0006	0.0074	0.0019	0.0085	0.0053	0.0030	0.0020	0.0041	0.0072	0.0018	0.0040	0.0016	0.0019	0.0051	0.0016	0.0015	0.0035	0.0032	0.0002	0	0.0044	0.0003	0.0008	0.0019	0	0.0022	0.0010	0.0051	.	.	.	0.058	0.46182	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.9	0.50570	L	5.48	0.00939	T	.	.	.	0.196	0.21580	-0.9677	0.37673	T	0.005	0.01506	T	6	0.0062211454	0.00140	T	0.002259	0.04314	T	.	.	.	.	0.0297737177859	0.01360	0.006950557827424315	0.00662	0.0117517464384	0.01108	0.406716108322	0.26003	T	0.013321	0.11547	T	-0.600712	0.00144	T	-0.630952	0.10343	T	0.00283690446206348	0.00030	T	0.00827695	0.00038	T	0.054282665	0.10392	0.09702577	0.23077	0.054282665	0.10391	0.09702577	0.23077	-7.621	0.58457	D	.	.	0.091	0.13080	B	.	.	1.310056	0.17132	12.98	0.43167113511087324	0.03231	0.35119	0.25227	N	AEFBCI	0.071668	0.14277	N	-0.7708437796746	0.14074	0.6981655	-0.983818581312014	0.10148	0.5092959	1.31273438236576E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.428	-0.855	0.10158	1.106000	0.30712	.	.	0.221000	0.18078	0.006000	0.17386	0.000000	0.08366	0.095000	0.18041	0.513:0.0:0.0:0.487	4.317	0.10440	988	0.01987	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	453.11	35	chr19	22314444	.	A	G	453.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=5.96;DP=893;ExcessHet=0.1072;FS=4.011;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.02;MQRankSum=-9.618e+00;QD=1.96;ReadPosRankSum=-3.277e+00;SOR=1.152	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,114,1245	19	0	2	0
chr19	22314450	22314450	A	G	exonic	ZNF729	.	nonsynonymous SNV	ZNF729:NM_001242680:exon4:c.A1033G:p.K345E,	.	.	440	1076	5	0	1	6	0.00231803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	.	.	-1.17	N	5.2	T	-0.936	T	0.001	T	0.053	-1.942	0.007	-0.855	-0.363	0.838	4.972	0.033	0.00333158294545	.	.	5.541e-05	0	0.0002	0	0	6.6e-05	0	0	0.0003816	59	154602	rs752366075	0.0029	0.0037	0.0026	0.0031	0.0086	0.0028	0.0027	0.0079	0.0076	0.0007	0.0078	0.0018	0.0086	0.0051	0.0034	0.0020	0.0040	0.0077	0.0015	0.0026	0.0015	0.0016	0.0041	0.0014	0.0013	0.0032	0.0029	0.0002	0	0.0041	0.0003	0.0004	0.0020	0	0.0018	0.0010	0.0038	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.41	0.02942	N	5.2	0.01165	T	.	.	.	0.122	0.11340	-0.9363	0.43195	T	0.001	0.00438	T	6	0.004689902	0.00099	T	0.003332	0.07421	T	.	.	.	.	0.0297737177859	0.01360	0.0051363204341247	0.00484	0.00843398898925	0.00763	0.340432047844	0.16503	T	0.001359	0.00832	T	-0.709598	0.00032	T	-0.787219	0.02242	T	0.0043571927721879	0.00046	T	0.0333967	0.00218	T	0.04407289	0.06981	0.07494415	0.16448	0.04407289	0.06980	0.07494415	0.16447	-3.21	0.12603	T	.	.	0.055	0.00375	B	.	.	-0.312286	0.02564	0.312	0.10639762865508966	0.00139	0.00464	0.02234	N	AEFBCI	0.022318	0.01100	N	-1.38802286606169	0.02749	0.1218538	-1.50363747807456	0.02316	0.106327	2.22081306905671E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.428	-0.855	0.10158	1.281000	0.32819	.	.	0.221000	0.18078	0.916000	0.31843	0.000000	0.08366	0.072000	0.16771	0.4601:0.0:0.5399:0.0	4.972	0.13467	988	0.01987	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	525.11	35	chr19	22314450	.	A	G	525.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.04;DP=899;ExcessHet=0.1072;FS=8.298;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.11;MQRankSum=-9.696e+00;QD=2.22;ReadPosRankSum=-2.666e+00;SOR=1.552	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,114,1245	19	0	2	0
chr19	22314465	22314465	C	T	exonic	ZNF729	.	nonsynonymous SNV	ZNF729:NM_001242680:exon4:c.C1048T:p.R350C,	.	.	472	1044	5	0	1	6	0.00238892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	.	.	-4.015	N	3.71	T	-0.921	T	0.001	T	0.145	-2.236	0.005	-0.74	-0.976	2.845	4.927	0.185	0.0184740447539	.	.	0.0002	0	0.0013	0	0	8.252e-05	0	0	0.0003234	50	154602	rs201406037	0.0033	0.0040	0.0030	0.0036	0.0097	0.0032	0.0032	0.0089	0.0086	0.0007	0.0097	0.0019	0.0092	0.0060	0.0032	0.0023	0.0044	0.0092	0.0019	0.0027	0.0018	0.0020	0.0048	0.0017	0.0016	0.0034	0.0031	0.0003	0	0.0043	0.0006	0.0007	0.0019	0	0.0024	0.0016	0.0048	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.02	0.00000	N	3.71	0.04046	T	.	.	.	0.156	0.16168	-0.9207	0.45458	T	0.001	0.00467	T	6	0.0044113398	0.00090	T	0.018474	0.40544	T	.	.	.	.	0.0401082797425	0.02173	0.020438225714581044	0.01996	0.00840729258209	0.00763	0.414145559072	0.27030	T	0.018832	0.15112	T	-0.644589	0.00078	T	-0.693979	0.06161	T	0.0142267395408211	0.00281	T	0.0223978	0.00128	T	0.08629841	0.20053	0.05714741	0.10338	0.08629841	0.20052	0.05714741	0.10338	5.204	0.00003	T	.	.	0.061	0.01109	B	.	.	-0.208399	0.03048	0.470	0.070424718442111081	0.00034	0.01043	0.03895	N	AEFBCI	0.015277	0.00283	N	-1.6186583232605	0.01174	0.05103847	-1.57158557712141	0.01831	0.08343255	3.89720637538446E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.37	-0.74	0.10555	2.277000	0.43076	.	.	-1.104000	0.01503	0.987000	0.36337	0.000000	0.08366	0.007000	0.07825	0.0:0.2175:0.0:0.7825	4.927	0.13252	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	782.11	35	chr19	22314465	.	C	T	782.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.18;DP=905;ExcessHet=0.1072;FS=10.712;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.14;MQRankSum=-9.070e+00;QD=3.27;ReadPosRankSum=-1.365e+00;SOR=1.648	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,114,1245	19	0	2	0
chr19	22392982	22392982	C	A	splicing	ZNF98	NM_001098626:exon4:c.254-1G>T	.	.	.	.	536	964	21	1	0	23	0.0117888	0.9999	0.514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	-0.821	0.621	-3.12	-0.408	-0.035	2.015	.	.	.	.	0.0135	0.0109	0.0064	0.0323	0.0058	0.0148	0.0161	0.0052	3.84e-05	1	26028	rs753118485	0.0004	0.0076	0.0004	0.0005	0.0026	0.0004	0.0004	0.0015	0.0012	0.0004	0.0007	0.0003	0.0015	0.0016	0.0026	0.0003	0.0005	0.0008	0.0001	0.0034	0.0001	0.0001	0.0012	7.193e-05	5.931e-05	0.0005	0.0004	2.437e-05	0	0.0001	0.0003	0.0012	0	0	7.471e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999913	0.19599	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.480276	0.00736	T	-0.92766	0.00342	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.988562	0.25265	16.70	0.29246123047690514	0.01542	0.00230	0.01288	N	AEFBI	.	.	.	-0.12472375991063	0.36319	2.097657	-0.603631867293508	0.19399	1.040641	3.2191850307567E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0443366	0.03230	1.56	-3.12	0.04959	0.694000	0.25190	.	.	0.296000	0.18849	0.005000	0.17040	0.001000	0.17328	0.017000	0.10941	0.2997:0.4494:0.0:0.2509	2.015	0.03283	988	0.01987	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	251.98	37	chr19	22392982	.	C	A	251.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.342e+00;DP=918;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.12;MQRankSum=-6.141e+00;QD=3.32;ReadPosRankSum=-6.220e-01;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,102,1530	20	0	1	0
chr19	22664651	22664651	A	G	exonic	ZNF492	.	nonsynonymous SNV	ZNF492:NM_020855:exon4:c.A982G:p.K328E,	.	.	439	1077	5	1	0	7	0.00323924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.985	D	0.968	D	.	.	1.000	N	0.55	N	3.18	T	-1.003	T	0.025	T	0.108	1.917	12.37	-1.93	0.231	-0.159	1.588	0.073	0.00110952129779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.423e-06	3.421e-06	2.725e-06	4.129e-06	4.5e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.5e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.42487	D	0.082	0.41573	T	0.985	0.61118	D	0.968	0.71741	D	.	.	.	.	0.99996	0.19072	N	0.19	0.09125	N	3.18	0.07478	T	-3.61	0.69477	D	0.06	0.03175	-1.0026	0.29168	T	0.025	0.10777	T	9	0.18712392	0.34209	T	0.00111	0.01336	T	0.073	0.21317	0.373	0.38503	0.471292358255	0.46759	0.007723581075987659	0.00737	2.77570733876	0.98820	0.373655170202	0.21354	T	0.019958	0.15803	T	-0.355793	0.04373	T	-0.748848	0.03531	T	0.390760599866444	0.28593	T	0.213579	0.02626	T	0.15951048	0.35828	0.12482801	0.30083	0.15951048	0.35828	0.12482801	0.30082	-7.848	0.60029	D	.	.	0.190	0.40794	B	.	.	2.271563	0.29037	17.99	0.90404422508786653	0.19665	0.01766	0.05546	N	AEFBI	0.042949	0.06728	N	-0.617224072562509	0.18426	0.9565757	-0.901880548290045	0.12050	0.6175986	1.65745046572396E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.12	-1.93	0.07180	-0.425000	0.07085	.	.	0.264000	0.18430	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.3605:0.3527:0.0:0.2867	1.588	0.02488	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1476.02	42	chr19	22664651	.	A	G	1476.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.020e-01;DP=853;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.024;MQ=37.44;MQRankSum=1.06;QD=9.77;ReadPosRankSum=-6.070e-01;SOR=0.700	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1538	20	0	1	0
chr19	22758131	22758131	T	C	exonic	ZNF99	.	nonsynonymous SNV	ZNF99:NM_001080409:exon4:c.A1778G:p.Y593C,	.	.	430	1084	7	1	0	9	0.00413413	.	.	2356860	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.952	P	0.791	P	.	.	1.000	N	1.885	L	1.8	T	-1.022	T	0.085	T	0.077	-0.783	0.723	-0.090	-0.871	-0.646	2.606	0.043	0.00277274776687	0.0013	0.000199681	0.0006	0.0001	0.0003	0	0	0.0011	0	6.063e-05	0.0005563	86	154602	rs201994212	0.0007	0.0007	0.0007	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	8.992e-05	0.0005	0	0	9.364e-05	0.0009	0.0009	0.0008	3.482e-05	0.0005	0.0005	0.0006	0.0005	0.0009	0.0004	0.0004	0.0007	0.0007	0.0001	0	0.0006	0	0	9.439e-05	0	0.0009	0.0005	0.0002	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.135	0.59519	M	1.8	0.25344	T	-7.47	0.94958	D	0.158	0.23506	-1.0215	0.23227	T	0.085	0.33128	T	9	0.02361998	0.00624	T	0.002773	0.05752	T	0.043	0.11576	.	.	0.0846915920261	0.08053	0.01649388471049691	0.01604	0.021601103111	0.02150	0.293224066496	0.09394	T	0.222105	0.58586	T	-0.585324	0.00179	T	-0.663995	0.07999	T	0.10208860039711	0.12586	T	0.0512949	0.00654	T	0.06983752	0.15334	0.13405527	0.32131	0.06983752	0.15334	0.13405527	0.32130	-8.137	0.62000	D	.	.	0.161	0.35663	B	.;.	.;.	1.972161	0.25051	16.62	0.56167519226708829	0.05494	0.00395	0.01981	N	AEFBI	0.027713	0.02312	N	-0.87217645323077	0.11508	0.5557141	-1.16561469667765	0.06492	0.3126775	2.92955826689294E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-0.0905	0.13000	-0.713000	0.05110	.	.	0.307000	0.19059	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.2219:0.1695:0.0:0.6086	2.606	0.04581	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2257.98	163	chr19	22758131	.	T	C	2257.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=1969;ExcessHet=0.0000;FS=6.788;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.76;MQRankSum=5.13;QD=10.80;ReadPosRankSum=0.698;SOR=0.865	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1340	20	0	1	0
chr19	22857391	22857391	A	T	exonic	ZNF723	.	nonsynonymous SNV	ZNF723:NM_001349726:exon4:c.A500T:p.H167L,	.	.	0	225	0	1	0	2	0.00442478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs375188361	0.0003	0.0002	0.0002	0.0004	0.0025	0.0003	0.0002	0.0022	0.0021	0	2.535e-05	0	0	0	0.0012	3.153e-05	5.724e-05	0.0025	0.0001	0.0001	7.706e-05	0.0001	0.0029	7.083e-05	5.741e-05	0.0018	0.0014	0	0	0	0	0	0	0	4.409e-05	0	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036090046	0.01890	T	.	.	.	.	.	.	.	.	.	0.002210760559636112	0.00205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0132987	0.00072	T	0.19126529	0.40746	0.1849233	0.41574	0.19126529	0.40746	0.1849233	0.41573	-5.79	0.44487	T	.	.	0.094	0.14339	B	.	.	1.082236	0.14654	11.21	0.63789523256748104	0.07317	0.01338	0.04604	N	AEFDBCI	.	.	.	.	.	.	.	.	.	4.8396779699489E-4	0.07123	0.053691	0.00478	0	0.063388	0.01293	0	0.063197	0.01477	0	0.062806	0.01542	0	0.635432	0.41468	0.428	0.428	0.15714	2.733000	0.47032	.	.	0.248000	0.18312	0.187000	0.24151	0.000000	0.08366	0.019000	0.11356	1.0:0.0:0.0:0.0	6.556	0.21658	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2717.98	40	chr19	22857391	.	A	T	2717.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.10;DP=940;ExcessHet=0.0000;FS=1.703;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=0.457;SOR=0.652	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr19	23145949	23145949	-	T	exonic	ZNF730	.	stopgain	ZNF730:NM_001277403:exon4:c.906dupT:p.K303*,	.	.	428	1090	4	0	0	4	0.0018315	.	.	2811927	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00319489	0.0039	0.0001	0.0018	0	0.0006	0.0045	0	0.0084	0.0004226	11	26028	rs529180941	0.0037	0.0037	0.0034	0.0039	0.0078	0.0036	0.0036	0.0073	0.0071	0.0005	0.0023	0.0043	0	0.0004	0.0058	0.0037	0.0038	0.0078	0.0029	0.0029	0.0030	0.0028	0.0085	0.0026	0.0026	0.0064	0.0057	0.0005	0	0.0033	0.0055	0	0	0	0.0044	0.0024	0.0085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1824.94	33	chr19	23145949	.	A	AT	1824.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.537;DP=863;ExcessHet=0.0000;FS=3.379;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.60;ReadPosRankSum=1.51;SOR=1.035	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1010	20	0	1	0
chr19	23146384	23146384	C	T	exonic	ZNF730	.	nonsynonymous SNV	ZNF730:NM_001277403:exon4:c.C1340T:p.T447I,	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	0.708	D	2.35	M	.	.	-0.400	T	0.273	T	0.19	2.506	14.34	0.819	0.283	1.398	8.541	0.063	0.00154795890084	.	0.000199681	0.0002	0	0	0	0	0.0004	0.0023	0	0.0001876	29	154602	rs200645540	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0001	7.546e-05	0	0	0.0067	0	0	0.0005	2.518e-05	0.0003	0.0001	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0001	.	.	0	0	0	0.0081	0	0	0	1.475e-05	0.0014	0.0002	.	.	.	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	0.707781	0.33487	D	2.54	0.74080	M	1.78	0.25678	T	.	.	.	0.189	0.20660	-0.3996	0.72039	T	0.273	0.64515	T	6	0.00902316	0.00204	T	0.001548	0.02445	T	.	.	.	.	0.119812018005	0.11559	0.013660163864844126	0.01324	0.0202108672299	0.01983	0.570133268833	0.48696	T	0.079542	0.36154	T	-0.38658	0.02830	T	-0.556404	0.16716	T	0.118052012502486	0.14238	T	0.312169	0.06100	T	0.17069332	0.37660	0.14562543	0.34530	0.17069332	0.37659	0.14562543	0.34529	-7.648	0.58645	D	.	.	0.338	0.55754	B	.	.	2.015776	0.25613	16.83	0.9847695711006631	0.41931	0.48382	0.28194	N	AEFDBHCI	0.116848	0.22916	N	-0.3965796541187	0.25591	1.390296	-0.618870336866138	0.19008	1.018006	0.0159708278108529	0.12776	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.620846	0.47308	0	.	.	0.819	0.819	0.17926	0.796000	0.26646	.	.	-0.761000	0.03509	0.258000	0.24929	0.000000	0.08366	0.006000	0.07323	0.0:1.0:0.0:0.0	8.541	0.32556	988	0.01987	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1540.98	39	chr19	23146384	.	C	T	1540.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.930e-01;DP=952;ExcessHet=0.0000;FS=4.679;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.95;MQRankSum=0.823;QD=9.40;ReadPosRankSum=0.923;SOR=1.052	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	20	0	1	0
chr19	23222731	23222731	G	A	exonic	ZNF724	.	nonsynonymous SNV	ZNF724:NM_001355404:exon4:c.C1514T:p.P505L	.	.	428	1089	4	1	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.856	P	0.394	B	.	.	0.997	D	.	.	2.3	T	-1.077	T	0.035	T	0.238	2.469	14.21	1.08	0.482	4.743	4.601	0.151	0.00235868783148	.	0.000199681	0.0009	0.0002	0.0025	0	0.0002	0.0010	0.0023	0.0002	0.0007374	114	154602	rs183425731	0.0006	0.0006	0.0006	0.0006	0.0044	0.0005	0.0005	0.0031	0.0026	0.0002	0.0012	0.0055	0	5.767e-05	0.0044	0.0005	0.0011	0.0001	0.0007	0.0007	0.0007	0.0007	0.0014	0.0006	0.0005	0.0009	0.0008	0.0002	0.0033	0.0014	0.0060	0	0	0	0.0007	0.0009	0.0002	0.059	0.37536	T	0.037	0.51737	D	0.856	0.47190	P	0.394	0.44277	B	.	.	.	.	0.99748	0.43926	D	.	.	.	2.3	0.16953	T	-7.53	0.95131	D	0.21	0.23380	-1.0772	0.07901	T	0.035	0.14943	T	8	0.009216875	0.00208	T	0.002359	0.04590	T	0.151	0.39764	.	.	0.438701194649	0.43488	0.016223407822603078	0.01578	0.572525695287	0.53339	.	.	.	0.146277	0.48380	T	-0.496552	0.00598	T	-0.521417	0.20151	T	0.0963786890783795	0.11954	T	0.126787	0.00989	T	0.15778415	0.35534	0.21991439	0.46748	0.15778415	0.35534	0.21991439	0.46747	-6.822	0.52722	T	.	.	0.390	0.58988	A	.	.	2.157585	0.27483	17.48	0.99460012781796991	0.65736	0.79423	0.39353	D	AEFBCI	0.152597	0.27731	N	0.048457945503461	0.44072	2.687953	-0.032323550132101	0.38264	2.251887	2.20926905466135E-4	0.05997	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	1.08	1.08	0.19456	4.982000	0.63547	.	.	0.239000	0.18229	1.000000	0.71638	0.000000	0.08366	0.949000	0.49496	0.2333:0.0:0.7667:0.0	4.601	0.11746	988	0.01987	Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2080.98	47	chr19	23222731	.	G	A	2080.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.110e-01;DP=2144;ExcessHet=0.0000;FS=0.658;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.26;ReadPosRankSum=-9.320e-01;SOR=0.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:172,0:172:99:.:.:0,120,1800	20	0	1	0
chr19	23223989	23223989	G	A	exonic	ZNF724	.	nonsynonymous SNV	ZNF724:NM_001355404:exon4:c.C256T:p.R86W	.	.	456	1059	7	0	0	7	0.00329412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.0	B	0.0	B	.	.	1.000	N	.	.	3.22	T	-0.934	T	0.013	T	0.153	-2.385	0.004	1.28	-0.264	0.325	3.320	0.029	.	.	0.000599042	0.0020	0.0002	0	0	0	0.0007	0	0.0110	0.0010155	157	154602	rs201600731	0.0009	0.0009	0.0006	0.0012	0.0062	0.0009	0.0008	0.0057	0.0055	0	0.0003	0.0030	0	0	0.0060	0.0002	0.0007	0.0062	0.0004	0.0004	0.0003	0.0005	0.0068	0.0003	0.0003	0.0050	0.0044	0	0	0.0002	0.0009	0	9.461e-05	0.0034	0.0002	0.0005	0.0068	1.0	0.00964	T	0.44	0.13328	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	10.42	0.00000	N	0.195	0.21449	-0.9345	0.43470	T	0.013	0.05273	T	8	0.005791247	0.00129	T	.	.	.	0.029	0.06676	0.361	0.36548	0.137902524267	0.13322	0.05825486345427175	0.05766	0.122939414534	0.13855	.	.	.	0.003592	0.03000	T	-0.645954	0.00077	T	-0.695095	0.06097	T	0.00172272489118834	0.00018	T	0.090191	0.02467	T	0.030656675	0.02766	0.030080814	0.01420	0.030656675	0.02766	0.030080814	0.01420	1.036	0.00127	T	.	.	0.071	0.06114	B	.;.;.	.;.;.	0.531392	0.09002	5.783	0.044671726736230974	0.00003	0.00075	0.00520	N	AEFBCI	0.020953	0.00882	N	-1.17255327450351	0.05418	0.2469752	-1.26992913276605	0.04843	0.2294047	3.04484372867719E-4	0.06454	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.491896	0.07777	0	.	.	1.28	1.28	0.20656	-0.301000	0.08269	.	.	-0.411000	0.05262	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.7289:0.0:0.2711:0.0	3.320	0.06634	988	0.01987	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1305.98	43	chr19	23223989	.	G	A	1305.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=1373;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.20;ReadPosRankSum=-1.180e-01;SOR=0.686	GT:AD:DP:GQ:PL	0/0:76,0:76:99:0,120,1800	20	0	1	0
chr19	23362723	23362723	T	C	exonic	ZNF91	.	nonsynonymous SNV	ZNF91:NM_001300951:exon3:c.A160G:p.I54V	.	.	711	809	2	0	0	2	0.00123457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.067	B	0.088	B	.	.	1.000	D	0.135	N	5.71	T	-0.896	T	0.007	T	0.062	-0.649	1.142	0.131	0.148	-2.275	.	0.003	0.00255579281556	0.0019	0.00159744	0.0030	0.0005	0.0031	0	0.0003	0.0042	0.0027	0.0021	0.0024838	384	154602	rs139015019	0.0023	0.0022	0.0023	0.0023	0.0055	0.0022	0.0022	0.0039	0.0034	0.0002	0.0029	0.0086	0	0.0006	0.0055	0.0023	0.0028	0.0014	0.0024	0.0024	0.0025	0.0023	0.0057	0.0022	0.0021	0.0047	0.0043	0.0004	0	0.0057	0.0069	0	0.0005	0.0342	0.0031	0.0019	0.0017	0.638	0.24277	T	0.578	0.23776	T	0.067	0.23653	B	0.011	0.29688	B	.	.	.	.	0.999999	0.58761	D	0.075	0.08292	N	3.47	0.05188	T	-0.14	0.18248	N	0.038	0.02559	-0.8956	0.48427	T	0.007	0.02518	T	8	0.0066034496	0.00150	T	0.002556	0.05121	T	0.003	0.00094	.	.	0.191931220699	0.18833	0.0029191563434631503	0.00271	0.165805969666	0.18709	0.406939864159	0.26033	T	0.001538	0.00977	T	-0.709752	0.00032	T	-0.793442	0.02071	T	0.00265291932436546	0.00028	T	0.0341966	0.00226	T	0.0320724	0.03165	0.04305648	0.05269	0.0320724	0.03164	0.04305648	0.05269	-1.584	0.50186	T	.	.	0.086	0.25000	B	.;.	.;.	-1.024714	0.00737	0.022	0.39929457389530015	0.02786	0.00522	0.02430	N	AEFBI	0.037023	0.05026	N	-1.26191821170363	0.04145	0.186499	-1.34647719909594	0.03847	0.1803098	2.50119927520373E-4	0.06141	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	0.131	0.131	0.14055	-2.957000	0.00740	.	.	-1.993000	0.00453	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	1504.11	38	chr19	23362723	.	T	C	1504.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.387;DP=967;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.82;ReadPosRankSum=-6.330e-01;SOR=0.656	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	19	0	2	0
chr19	23653444	23653444	T	C	exonic	ZNF675	.	nonsynonymous SNV	ZNF675:NM_138330:exon4:c.A1489G:p.T497A,	.	.	433	1087	2	0	0	2	0.000919118	.	.	3354663	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.019	B	0.014	B	.	.	1.000	N	-0.495	N	2.29	T	-0.982	T	0.015	T	0.031	-1.677	0.012	0.886	0.257	-2.565	1.448	0.013	0.000747697054204	0.0002	0.000199681	0.0004	0.0001	0.0002	0	0	0.0005	0.0022	0.0004	0.0003493	54	154602	rs147297608	0.0004	0.0004	0.0004	0.0004	0.0009	0.0003	0.0003	0.0004	0.0004	2.987e-05	6.714e-05	0	0	0	0.0009	0.0004	0.0003	0.0004	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	8.75e-05	0.0001	0.0001	7.255e-05	0	0.0003	0	0	0	0	0.0002	0	0	0.113	0.28772	T	0.395	0.15255	T	0.019	0.17989	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	-0.12	0.04575	N	2.29	0.17113	T	-1.47	0.35991	N	0.028	0.00618	-0.9817	0.34608	T	0.015	0.06042	T	9	0.033495873	0.01528	T	7.48E-4	0.00529	T	0.013	0.01715	.	.	0.0920862733494	0.08535	0.010185291196648637	0.00980	0.0204523279217	0.02011	0.334325790405	0.15586	T	0.006303	0.05736	T	-0.642291	0.00081	T	-0.830381	0.01255	T	0.010980476202643	0.00158	T	0.466353	0.13696	T	0.032577023	0.03311	0.04078023	0.04486	0.032577023	0.03310	0.04078023	0.04486	-5.387	0.40794	T	.	.	0.099	0.16582	B	.	.	0.212369	0.05959	2.398	0.52421078818015743	0.04745	0.00500	0.02358	N	AEFBCI	0.014887	0.00256	N	-1.26612999487781	0.04091	0.1839727	-1.30303719517648	0.04390	0.2069976	9.94591867481728E-6	0.01202	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	0.886	0.886	0.18329	-1.242000	0.03018	.	.	0.238000	0.18221	0.000000	0.06391	0.002000	0.18203	0.008000	0.08271	0.3179:0.244:0.0:0.4381	1.448	0.02224	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1158.98	33	chr19	23653444	.	T	C	1158.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=781;ExcessHet=0.0000;FS=1.624;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.84;MQRankSum=0.925;QD=11.59;ReadPosRankSum=1.67;SOR=0.907	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1315	20	0	1	0
chr19	23654488	23654488	A	C	exonic	ZNF675	.	nonsynonymous SNV	ZNF675:NM_138330:exon4:c.T445G:p.Y149D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.119	B	0.203	B	.	.	0.823	N	2.86	M	1.53	T	-0.913	T	0.110	T	0.288	1.572	11.21	0.916	0.257	1.062	5.595	0.082	0.00183071367624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.23721	T	0.079	0.42086	T	0.119	0.26641	B	0.203	0.37000	B	.	.	.	.	0.823441	0.28853	N	3.07	0.87108	M	1.53	0.30401	T	-8.3	0.96976	D	0.218	0.24385	-0.9131	0.46467	T	0.110	0.39604	T	9	0.42559507	0.57152	T	0.001831	0.03167	T	0.082	0.23913	0.698	0.83499	0.297718772494	0.29385	0.009053615126522894	0.00868	0.0827843753343	0.09339	0.359264284372	0.19278	T	0.097668	0.40073	T	-0.18445	0.23077	T	-0.502726	0.22065	T	0.368935021987662	0.27756	T	0.0976902	0.27067	T	0.2599075	0.49045	0.21621345	0.46240	0.2599075	0.49045	0.21621345	0.46239	-6.261	0.48413	T	.	.	0.069	0.43544	B	.;.	.;.	1.220074	0.16140	12.34	0.87014884497181466	0.16929	0.10272	0.15824	N	AEFBCI	0.063061	0.12162	N	-0.66358398289055	0.17066	0.8750026	-0.843148885488901	0.13453	0.6979277	0.00106513767096373	0.08183	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	0.916	0.916	0.18500	0.085000	0.14759	.	.	0.361000	0.20101	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	1.0:0.0:0.0:0.0	5.595	0.16603	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3634.98	33	chr19	23654488	.	A	C	3634.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.230;DP=3041;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.74;ReadPosRankSum=0.566;SOR=0.673	GT:AD:DP:GQ:PL	0/0:148,0:148:99:0,120,1800	20	0	1	0
chr19	24126737	24126739	CTC	-	exonic	ZNF254	.	nonframeshift deletion	ZNF254:NM_001278678:exon2:c.482_484del:p.P162del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	0.0001	0	0	0.0006	0	7.59e-05	0	0.0001	8.41e-05	13	154602	rs751155008	8.897e-05	8.893e-05	8.307e-05	9.493e-05	0.0004	7.625e-05	7.171e-05	0.0002	0.0002	0.0001	6.729e-05	0	0.0004	0	0.0003	7.915e-05	9.941e-05	0.0001	5.924e-05	5.914e-05	2.573e-05	9.437e-05	0.0004	3.082e-05	2.214e-05	6.847e-05	3.058e-05	0.0001	0	0	0	0.0004	0	0	2.943e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2204.94	34	chr19	24126736	.	TCTC	T	2204.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.090e-01;DP=876;ExcessHet=0.0000;FS=5.795;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.17;ReadPosRankSum=-1.992e+00;SOR=1.099	GT:AD:DP:GQ:PL	0/1:58,57:115:99:2219,0,2263	20	0	1	0
chr19	24127753	24127753	C	T	exonic	ZNF254	.	nonsynonymous SNV	ZNF254:NM_001278678:exon2:c.C1498T:p.R500W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.303	B	0.042	B	.	.	1.000	N	1.335	L	3.19	T	-0.961	T	0.014	T	0.196	0.998	9.075	-0.621	-0.295	-0.252	2.203	0.015	0.001022816492	0.0030	0.000798722	0.0028	0.0019	0.0004	0.0001	0	0.0046	0.0011	0.0003	0.0027749	429	154602	rs146672619	0.0030	0.0030	0.0031	0.0029	0.0037	0.0029	0.0029	0.0036	0.0035	0.0011	0.0004	0.0002	5.046e-05	0.0010	0	0.0037	0.0018	0.0002	0.0018	0.0018	0.0019	0.0016	0.0030	0.0016	0.0015	0.0027	0.0026	0.0012	0	0.0005	0.0006	0.0002	0.0005	0	0.0030	0.0010	0	0.416	0.09958	T	0.207	0.27679	T	0.303	0.32643	B	0.042	0.24114	B	.	.	.	.	1	0.08975	N	1.925	0.51371	L	3.19	0.07353	T	-1.3	0.32590	N	0.133	0.14054	-0.9607	0.39050	T	0.014	0.05753	T	9	0.003712982	0.00069	T	0.001023	0.01120	T	0.015	0.02232	.	.	0.0401082797425	0.02173	0.009809851484075465	0.00942	0.00147402651923	0.00125	0.295972287655	0.09803	T	0.004322	0.03729	T	-0.618174	0.00113	T	-0.659788	0.08281	T	0.0030301096404045	0.00032	T	0.257774	0.05417	T	0.04297975	0.06616	0.029831648	0.01366	0.04297975	0.06616	0.029831648	0.01366	-2.706	0.07354	T	.	.	0.215	0.50663	B	.;.;.;.	.;.;.;.	1.230976	0.16258	12.42	0.98072150279757986	0.38038	0.00011	0.00159	N	AEFDBHCI	0.051844	0.09198	N	-0.966702361835392	0.09321	0.440682	-1.10058871161028	0.07690	0.3750271	6.63863612526585E-5	0.04366	0.651	0.46895	0	0.633656	0.55848	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	0.525	-0.621	0.10984	-1.322000	0.02802	.	.	0.294000	0.18828	0.000000	0.06391	0.000000	0.08366	0.966000	0.53164	0.0:0.3573:0.3412:0.3015	2.203	0.03688	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1363.98	34	chr19	24127753	.	C	T	1363.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.55;DP=819;ExcessHet=0.0000;FS=2.644;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.06;ReadPosRankSum=-3.830e-01;SOR=0.530	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr19	29615357	29615357	G	A	exonic	POP4	.	nonsynonymous SNV	POP4:NM_006627:exon7:c.G640A:p.A214T,	.	.	440	1060	21	1	0	23	0.0107326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.361	B	0.075	B	0.003	N	0.834	D	0.625	N	.	.	-0.948	T	0.100	T	0.404	3.305	17.11	6.17	2.941	4.512	15.248	0.043	.	0.0003	0.00259585	0.0014	0	0	0.0001	0	0.0004	0.0011	0.0088	0.001216	188	154602	rs143408535	0.0007	0.0007	0.0005	0.0010	0.0084	0.0007	0.0007	0.0078	0.0076	8.966e-05	0.0003	0	2.519e-05	1.873e-05	0.0082	0.0002	0.0011	0.0084	0.0006	0.0006	0.0004	0.0008	0.0106	0.0005	0.0005	0.0083	0.0075	9.639e-05	0	0.0003	0	0	0	0.0034	0.0004	0.0009	0.0106	.	.	.	0.477	0.12002	T	0.026	0.19406	B	0.005	0.11217	B	0.002919	0.35737	N	0.263220	0.833686	0.34957	D	1.405	0.35469	L	.	.	.	.	.	.	0.153	0.15749	-0.9484	0.41245	T	0.100	0.37060	T	9	0.008238256	0.00187	T	.	.	.	0.043	0.11576	.	.	0.252681307341	0.24864	0.5415715994778354	0.54082	0.135333160599	0.15256	0.398498415947	0.24859	T	0.026685	0.19696	T	-0.330749	0.06056	T	-0.241902	0.50613	T	0.0165160433832631	0.00415	T	0.851715	0.65300	D	0.1541593	0.34907	0.14179023	0.33753	0.1541593	0.34907	0.14179023	0.33752	-6.096	0.47076	T	.	.	0.103	0.18539	B	.;.	.;.	3.573730	0.50344	22.9	0.9962703304120808	0.75776	0.96603	0.69970	D	AEFDGBI	0.729455	0.67715	D	0.0184870462538853	0.42695	2.57744	0.236341159294988	0.51876	3.366491	0.999999923925911	0.74766	0.732398	0.92422	0	0.723133	0.82719	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	3.977000	0.56581	8.551000	0.77529	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.831000	0.39176	0.0:0.0:0.8513:0.1487	15.248	0.73212	948	0.11499	Ribonuclease P/MRP, subunit p29;Ribonuclease P/MRP, subunit p29	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1359.98	119	chr19	29615357	.	G	A	1359.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.810e-01;DP=939;ExcessHet=0.0000;FS=1.462;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=-1.250e-01;SOR=0.873	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	20	0	1	0
chr19	30007545	30007545	A	G	exonic	URI1	.	nonsynonymous SNV	URI1:NM_001252641:exon7:c.A539G:p.D180G	.	.	426	1068	27	1	0	29	0.0133949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.002	B	0.002	B	0.507	N	0.997	N	0.55	N	2.87	T	-0.933	T	0.015	T	0.307	0.261	5.409	0.906	-0.183	0.833	3.248	0.036	0.00831901563935	0.0015	0.00179712	0.0028	0.0002	0.0003	0.0001	0	0.0027	0.0044	0.0087	0.0024773	383	154602	rs35808349	0.0016	0.0016	0.0013	0.0019	0.0088	0.0016	0.0015	0.0083	0.0081	0.0002	0.0005	0.0370	2.521e-05	0	0.0052	0.0003	0.0035	0.0088	0.0015	0.0015	0.0015	0.0015	0.0085	0.0013	0.0013	0.0064	0.0057	0.0001	0	0.0008	0.0366	0	0	0	0.0005	0.0024	0.0085	.	.	.	0.152	0.48080	T	0.001	0.07471	B	0.001	0.04355	B	0.506522	0.11890	N	0.815272	0.997412	0.22668	N	-0.11	0.04642	N	2.87	0.10386	T	.	.	.	0.127	0.17002	-0.9333	0.43650	T	0.015	0.05849	T	10	0.0029184222	0.00130	T	0.008319	0.22029	T	0.036	0.09122	.	.	0.19670166235	0.19296	0.1806272777807416	0.17981	.	.	0.3522772789	0.18257	T	0.018062	0.14625	T	-0.548704	0.00297	T	-0.55512	0.16839	T	0.000493352226057953	0.00004	T	0.662834	0.37546	T	0.03990745	0.05599	0.032111034	0.01896	0.03990745	0.05598	0.032111034	0.01896	-4.169	0.26954	T	.	.	0.077	0.06525	B	.;.;.	.;.;.	1.201174	0.15936	12.20	0.86444548530996701	0.16540	0.32829	0.24681	N	AEFGBI	0.208275	0.33437	N	-0.943709659497948	0.09835	0.4672198	-0.91507801104641	0.11738	0.5998493	0.436649672931487	0.20418	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.6	0.906	0.18444	1.155000	0.31311	1.839000	0.29174	0.749000	0.86810	0.650000	0.28172	0.406000	0.24735	0.272000	0.23818	0.53:0.2688:0.0723:0.129	3.248	0.06402	960	0.08626	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1017.98	34	chr19	30007545	.	A	G	1017.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.130e-01;DP=777;ExcessHet=0.0000;FS=0.786;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.19;ReadPosRankSum=-1.092e+00;SOR=0.569	GT:AD:DP:GQ:PL	0/1:44,47:91:99:1032,0,962	20	0	1	0
chr19	31279167	31279167	G	A	exonic	TSHZ3	.	nonsynonymous SNV	TSHZ3:NM_020856:exon2:c.C626T:p.T209M,	.	.	.	.	.	.	.	.	.	.	.	3487002	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.56	M	2.04	T	-0.792	T	0.170	T	0.801	3.996	20.5	5.42	2.509	9.471	19.215	0.452	0.0498371643909	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1210168815	1.917e-05	1.984e-05	2.315e-05	1.514e-05	3.479e-05	1.329e-05	1.144e-05	1.461e-05	1.228e-05	2.989e-05	0	0	0	0	0	2.16e-05	0	3.479e-05	6.572e-06	6.567e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.62929	D	0.055638	1	0.81001	D	2.175	0.60977	M	2.04	0.20808	T	-3.2	0.64710	D	0.861	0.85766	-0.7918	0.55624	T	0.170	0.51133	T	10	0.82841927	0.82012	D	0.049837	0.63984	D	0.452	0.75211	.	.	0.501308276186	0.49768	0.6108650900503092	0.61018	1.0736861455	0.76906	0.876175522804	0.93438	D	0.714105	0.91868	D	0.080176	0.62061	D	-0.0589633	0.66405	T	0.970334053039551	0.68911	D	0.997	0.98879	D	0.44393432	0.63655	0.45563993	0.68354	0.44393432	0.63656	0.45563993	0.68355	-11.826	0.83993	D	.	.	0.814	0.77921	P	.	.	4.849901	0.79257	27.1	0.99881475483367532	0.95733	0.98847	0.87641	D	AEFDBI	0.910360	0.86818	D	0.930927006735151	0.93192	11.87881	0.893710830782997	0.95292	13.48612	0.999999999527102	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.42	5.42	0.78666	9.597000	0.97445	11.896000	0.99222	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.215	0.93760	896	0.25515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2911.98	43	chr19	31279167	.	G	A	2911.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.03;DP=995;ExcessHet=0.0000;FS=5.647;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=0.748;SOR=1.071	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr19	32382878	32382878	C	T	exonic	ZNF507	.	nonsynonymous SNV	ZNF507:NM_014910:exon6:c.C2657T:p.T886I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.002	B	0.007	B	0.422	N	0.999	N	1.245	L	3.59	T	-1.073	T	0.023	T	0.23	3.230	16.82	4.84	2.785	2.627	11.607	0.040	0.0054839109117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.263	0.22828	T	0.002	0.09854	B	0.007	0.12992	B	0.422360	0.12854	N	0.749959	1	0.08975	N	1.555	0.39373	L	3.59	0.06602	T	-1.23	0.31170	N	0.158	0.16447	-1.0734	0.08681	T	0.023	0.09832	T	10	0.086309105	0.14658	T	0.005484	0.14106	T	0.040	0.10527	0.188	0.09776	0.082315109003	0.07666	0.35297715856351913	0.35211	0.356834011381	0.37416	0.314413458109	0.12574	T	0.052278	0.29116	T	-0.232413	0.16331	T	-0.571622	0.15302	T	0.697001218795776	0.40576	D	0.59614	0.22137	T	0.050565388	0.09154	0.053287983	0.08947	0.050565388	0.09154	0.053287983	0.08946	-4.222	0.27069	T	.	.	0.108	0.20625	B	.;.;.	.;.;.	2.888567	0.38249	20.7	0.99818157905049065	0.90150	0.87983	0.47718	D	AEFGBI	0.115500	0.22707	N	0.0195241882200254	0.42742	2.581207	0.202682123218495	0.49995	3.196342	0.999944972485483	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.87	4.84	0.62125	1.823000	0.38700	4.021000	0.41251	0.599000	0.40250	0.972000	0.34453	0.279000	0.24096	0.970000	0.54328	0.0:0.8676:0.0:0.1324	11.607	0.50297	843	0.36859	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1543.98	35	chr19	32382878	.	C	T	1543.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.734e+00;DP=884;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.08;ReadPosRankSum=0.215;SOR=0.703	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr19	32383039	32383039	A	G	exonic	ZNF507	.	nonsynonymous SNV	ZNF507:NM_014910:exon6:c.A2818G:p.I940V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.994	D	0.987	D	0.000	D	1.000	D	1.79	L	3.0	T	-1.143	T	0.088	T	0.444	3.686	18.73	5.92	2.266	7.107	16.363	0.171	0.0103761624725	.	.	1.653e-05	0	0	0	0	3.007e-05	0	0	1.29e-05	2	154602	rs778475269	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	6.568e-06	6.566e-06	1.284e-05	0	1.469e-05	0	0	.	.	0	0	0	0	0	0	0	1.469e-05	0	0	0.003	0.72154	D	0.0	0.92824	D	0.994	0.66517	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	0.999385	0.46865	D	1.04	0.26193	L	3.0	0.12371	T	-0.13	0.10480	N	0.26	0.34874	-1.1425	0.01268	T	0.088	0.34105	T	10	0.2290636	0.39826	T	0.010376	0.26850	T	0.171	0.43483	0.273	0.22369	0.082315109003	0.07666	0.30412437249182983	0.30325	0.141012645954	0.15902	0.602843642235	0.53306	T	0.059219	0.31057	T	-0.108362	0.35039	T	-0.377945	0.35963	T	0.651877234925434	0.38542	D	0.910509	0.68253	D	0.1489895	0.33988	0.2049493	0.44642	0.1489895	0.33987	0.2049493	0.44641	-5.291	0.39854	T	.	.	0.133	0.56436	B	.;.;.	.;.;.	3.830803	0.55368	23.6	0.99827195181562811	0.90939	0.98692	0.85647	D	AEFGBI	0.770315	0.70530	D	0.707304765509048	0.80110	7.222554	0.719725778803481	0.83876	8.138371	0.999999999874064	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	7.129000	0.76835	9.372000	0.80454	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	1.0:0.0:0.0:0.0	16.363	0.83114	845	0.36510	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	655.98	35	chr19	32383039	.	A	G	655.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=822;ExcessHet=0.0000;FS=1.124;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=0.993;SOR=1.038	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr19	32644432	32644432	C	A	exonic	ANKRD27	.	nonsynonymous SNV	ANKRD27:NM_032139:exon5:c.G418T:p.D140Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.982	D	0.001	D	1.000	D	2.095	M	1.53	T	-0.772	T	0.200	T	0.869	4.429	23.5	5.61	2.651	6.723	19.694	0.482	0.0439310047385	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239207753	2.052e-06	2.052e-06	2.723e-06	1.375e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.982	0.75477	D	0.000682	0.42383	D	0.104603	0.999979	0.53665	D	2.36	0.67893	M	1.53	0.30401	T	-5.24	0.83967	D	0.846	0.87699	-0.7723	0.56731	T	0.200	0.55640	T	10	0.6688464	0.70590	D	0.043931	0.61237	D	0.482	0.77206	0.375	0.38830	0.55342899667	0.55001	0.7369671687246147	0.73641	0.488518040385	0.47651	0.676247656345	0.63731	T	0.300204	0.67271	T	0.211019	0.74924	D	0.0653377	0.74598	D	0.99201363325119	0.82399	D	0.953705	0.82322	D	0.69099164	0.77565	0.66618043	0.80425	0.69099164	0.77566	0.66618043	0.80426	-13.131	0.89895	D	.	.	0.480	0.72254	A	.;.;.	.;.;.	5.312492	0.89180	29.9	0.99501679787668351	0.68089	0.98437	0.82768	D	AEFBI	0.711421	0.66487	D	0.759233195113225	0.83506	8.035	0.740506670175947	0.85446	8.583097	0.999999858676109	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.61	5.61	0.85347	6.645000	0.74198	7.676000	0.65050	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:1.0:0.0:0.0	19.694	0.96012	905	0.23532	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	567.98	33	chr19	32644432	.	C	A	567.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.740e-01;DP=757;ExcessHet=0.0000;FS=2.035;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.11;ReadPosRankSum=-4.800e-01;SOR=0.465	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1321	20	0	1	0
chr19	32709348	32709348	C	T	exonic	NUDT19	.	nonsynonymous SNV	NUDT19:NM_001105570:exon2:c.C878T:p.P293L,	.	.	430	1089	3	0	0	3	0.00137552	.	.	2237135	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.942	D	0.000	U	1.000	D	2.54	M	0.11	T	-0.366	T	0.337	T	0.74	2.451	14.15	3.83	2.405	2.596	8.433	0.346	0.115582720635	0.0002	0.000199681	0.0002	0	0.0004	0.0007	0	0.0002	0.0011	0	0.0001876	29	154602	rs184454636	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0002	0.0007	0.0006	5.974e-05	0.0004	0.0001	0.0010	0	0.0012	0.0002	0.0003	2.319e-05	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0001	0.0010	0.0008	0.0001	0	0.0001	0	0.0019	0	0	0.0002	0	0	0.0	0.91255	D	0.026	0.55759	D	1.0	0.90584	D	0.942	0.67772	D	0.000321	0.45700	U	0.146910	1	0.81001	D	3.29	0.90338	M	0.11	0.61208	T	-9.4	0.98380	D	0.86	0.85660	-0.3665	0.73068	T	0.337	0.70322	T	10	0.7284224	0.74131	D	0.115583	0.79481	D	0.346	0.66769	.	.	0.641797326188	0.63884	0.8233935750908207	0.82296	0.438887797697	0.43915	0.453682005405	0.32447	T	0.563307	0.85419	D	-0.12069	0.33010	T	0.00830846	0.70873	D	0.417154254766561	0.29585	T	0.724128	0.33779	T	0.66981477	0.76423	0.4213289	0.66068	0.66981477	0.76424	0.4213289	0.66068	-10.705	0.78015	D	.	.	0.496	0.64412	A	.	.	4.460152	0.69407	25.4	0.99797865468806346	0.88283	0.70541	0.34633	D	AEFGBHI	0.072711	0.14519	N	0.496496704367046	0.66883	5.008424	0.382753423714393	0.60501	4.23846	0.166648352402941	0.17674	0.732398	0.92422	0	0.724815	0.89359	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.88	3.83	0.43287	2.940000	0.48695	2.727000	0.34358	0.549000	0.26987	0.988000	0.36536	0.993000	0.31925	0.332000	0.25247	0.0:0.8942:0.0:0.1058	8.433	0.31932	849	0.35778	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1198.98	34	chr19	32709348	.	C	T	1198.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=810;ExcessHet=0.0000;FS=2.314;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.52;ReadPosRankSum=0.164;SOR=0.929	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1067	20	0	1	0
chr19	32794778	32794778	G	A	exonic	TDRD12	.	nonsynonymous SNV	TDRD12:NM_001366102:exon14:c.G1438A:p.G480R,	.	.	432	1055	33	2	0	37	0.0172333	.	.	2811954	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	0.247	B	0.109	B	0.000	D	1.000	D	.	.	1.02	T	-1.026	T	0.074	T	0.228	1.359	10.47	5.44	2.565	2.768	13.538	0.065	.	.	0.00459265	0.0090	0.0014	0.005	0	0.0018	0.0106	0.0208	0.0104	0.0020116	311	154602	rs34982176	0.0077	0.0068	0.0074	0.0080	0.0289	0.0075	0.0074	0.0247	0.0231	0.0017	0.0040	0.0117	3.115e-05	0.0019	0.0289	0.0089	0.0086	0.0093	0.0057	0.0057	0.0060	0.0053	0.0090	0.0054	0.0052	0.0084	0.0081	0.0011	0.0143	0.0058	0.0101	0.0002	0.0007	0.0342	0.0090	0.0085	0.0075	0.627	0.05198	T	0.0	0.92824	D	0.247	0.31125	B	0.109	0.31370	B	0.000214	0.47681	D	0.000000	0.737116	0.29772	N	.	.	.	1.02	0.40749	T	-0.98	0.25986	N	0.134	0.13055	-1.0257	0.21853	T	0.074	0.29928	T	9	0.0044124722	0.00090	T	.	.	.	0.065	0.18881	0.591	0.71999	0.199424873507	0.19547	.	.	.	.	0.394102066755	0.24246	T	0.001107	0.00619	T	-0.533207	0.00368	T	-0.53073	0.19215	T	0.0241311227214478	0.01162	T	0.730727	0.35772	T	0.14703566	0.33630	0.16563219	0.38306	0.14703566	0.33630	0.16563219	0.38305	-8.441	0.64037	D	.	.	0.157	0.34645	B	.;.	.;.	1.372129	0.17825	13.39	0.98987957021360784	0.49882	0.59274	0.30870	D	AEFDBIJ	0.431023	0.49349	N	-0.163986840372154	0.34642	1.979767	-0.112475397459442	0.34885	2.011863	0.999584243349535	0.40607	0.553676	0.25195	0	0.607795	0.50457	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.44	5.44	0.79348	2.929000	0.48610	3.925000	0.40497	0.676000	0.76740	0.201000	0.24320	1.000000	0.68203	0.435000	0.27561	0.0748:0.0:0.9252:0.0	13.538	0.61116	708	0.56926	DEAD/DEAH box helicase domain;DEAD/DEAH box helicase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3252.66	91	chr19	32794778	.	G	A	3252.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.038;DP=821;ExcessHet=0.0000;FS=4.242;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=20.08;ReadPosRankSum=0.782;SOR=1.087	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1081	19	1	1	0
chr19	32976669	32976669	C	T	exonic	FAAP24	.	nonsynonymous SNV	FAAP24:NM_001300978:exon3:c.C350T:p.T117M	.	.	428	1082	10	2	0	14	0.00642792	.	.	1289153	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.954	D	0.000	D	0.937	D	1.99	M	.	.	-0.218	T	0.302	T	0.484	2.403	14.00	4.17	1.315	2.698	15.048	0.328	0.0348122791162	0.0015	0.00139776	0.0027	0.0005	0.0016	0	0.0026	0.0034	0.0011	0.0032	0.0024903	385	154602	rs148106526	0.0026	0.0026	0.0026	0.0026	0.0038	0.0026	0.0025	0.0031	0.0029	0.0002	0.0013	0.0005	0	0.0042	0.0038	0.0028	0.0024	0.0034	0.0022	0.0022	0.0024	0.0019	0.0048	0.0020	0.0019	0.0039	0.0036	0.0006	0	0.0048	0.0006	0.0002	0.0034	0.0034	0.0025	0.0028	0.0037	.	.	.	0.002	0.79402	D	1.0	0.90584	D	0.954	0.69447	D	0.000392	0.44960	D	0.226611	0.919453	0.37174	D	1.6	0.40776	L	2.52	0.14160	T	.	.	.	0.442	0.80180	-0.2184	0.77193	T	0.302	0.67325	T	9	0.0058882535	0.00132	T	0.034812	0.55931	D	.	.	.	.	0.28297238246	0.27903	0.20282100742663625	0.20199	0.95380284473	0.72739	.	.	.	0.050693	0.28669	T	-0.451339	0.01109	T	-0.421238	0.30934	T	0.020310959559876	0.00731	T	0.69903	0.30897	T	0.47475508	0.65581	0.47809625	0.69766	0.47475508	0.65582	0.47809625	0.69766	-7.246	0.55811	T	.	.	0.108	0.20469	B	.;.;.;.	.;.;.;.	4.024142	0.59457	24.1	0.99869682912059199	0.94726	0.88265	0.48115	D	AEFDGBCI	0.450678	0.50497	N	0.354377324027661	0.58969	4.072858	0.265603429066642	0.53542	3.522629	0.999998589771638	0.74766	0.712529	0.81865	0	0.635938	0.57008	0	0.779548	0.98927	0	0.599892	0.37169	0	.	.	5.21	4.17	0.48303	3.220000	0.50909	4.016000	0.41206	0.544000	0.25403	0.988000	0.36536	1.000000	0.68203	0.214000	0.22296	0.0:0.8566:0.1434:0.0	15.048	0.71506	361	0.84870	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	370.98	39	chr19	32976669	.	C	T	370.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.801;DP=1063;ExcessHet=0.0000;FS=1.015;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.27;ReadPosRankSum=2.03;SOR=0.495	GT:AD:DP:GQ:PL	0/0:63,0:63:99:0,120,1800	20	0	1	0
chr19	32996094	32996094	C	T	exonic	RHPN2	.	nonsynonymous SNV	RHPN2:NM_033103:exon11:c.G1352A:p.R451Q,	.	.	.	.	.	.	.	.	.	.	.	3483056	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.29	T	0.046	B	0.007	B	0.024	N	1.000	N	0.49	N	2.41	T	-1.011	T	0.019	T	0.09	1.372	10.51	-0.709	0.050	0.398	4.739	0.054	0.00712084965663	7.7e-05	0.000199681	9.071e-05	0	0	0.0002	0	3.001e-05	0	0.0004	7.76e-05	12	154602	rs374206352	3.9e-05	3.899e-05	3.131e-05	4.676e-05	0.0004	3.047e-05	2.783e-05	0.0003	0.0003	0	0	0	7.557e-05	0	0	1.529e-05	1.656e-05	0.0004	2.626e-05	2.625e-05	1.285e-05	4.027e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.981e-05	0	0	0	0	0.0002	0	0	0	0	0.0006	0.241	0.17643	T	0.22	0.25907	T	0.046	0.21875	B	0.007	0.12992	B	0.024112	0.26321	N	0.431386	0.999997	0.08975	N	0.51	0.13489	N	2.41	0.15492	T	-0.14	0.09135	N	0.112	0.09914	-1.0109	0.26635	T	0.019	0.07893	T	10	0.025955558	0.00775	T	0.007121	0.18869	T	0.054	0.15330	.	.	0.242244723065	0.23846	0.21334737960487213	0.21250	0.382972438731	0.39630	0.18659734726	0.00171	T	0.018194	0.14708	T	-0.566837	0.00231	T	-0.715739	0.05003	T	0.0460753022834534	0.04797	T	0.783822	0.42110	T	0.04721303	0.08032	0.0409682	0.04550	0.04721303	0.08031	0.0409682	0.04549	-6.751	0.52193	T	.	.	0.071	0.03811	B	.	.	1.400714	0.18148	13.57	0.98884233796617482	0.47877	0.03861	0.09220	N	AEFGBI	0.058593	0.11005	N	-0.821474645837258	0.12762	0.6241763	-0.778429375995421	0.15023	0.7880734	0.0129595430551048	0.12397	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	4.86	-0.709	0.10671	0.215000	0.17352	-1.126000	0.06253	0.545000	0.25583	0.000000	0.06391	0.000000	0.08366	0.345000	0.25546	0.1788:0.3852:0.0:0.436	4.739	0.12378	688	0.59122	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	894.98	35	chr19	32996094	.	C	T	894.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.92;DP=806;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.86;MQRankSum=-1.476e+00;QD=9.94;ReadPosRankSum=-3.460e-01;SOR=0.722	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,120,1800	20	0	1	0
chr19	32999594	32999594	C	T	exonic	RHPN2	.	nonsynonymous SNV	RHPN2:NM_033103:exon10:c.G1217A:p.R406Q,	.	.	393	1026	102	1	0	104	0.0482375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.046	B	0.011	B	0.546	N	1.000	N	1.385	L	1.92	T	-1.048	T	0.066	T	0.045	3.628	18.46	-6.97	-1.575	-0.317	3.396	0.081	0.0142889467842	.	.	7.456e-05	0.0002	8.699e-05	0.0002	0	6.023e-05	0	0	3.84e-05	1	26028	rs201438314	6.167e-06	7.524e-06	4.091e-06	8.265e-06	0.0002	2.9e-06	2.1e-06	8.222e-05	5.8e-05	0	2.239e-05	0	0.0002	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	0.13131	T	0.262	0.22895	T	0.046	0.21875	B	0.011	0.15521	B	0.546131	0.05342	N	1.251570	1	0.08975	N	0.72	0.18721	N	1.92	0.23082	T	-1.58	0.38151	N	0.079	0.05414	-1.0477	0.15045	T	0.066	0.27364	T	10	0.048371255	0.04278	T	0.014289	0.34307	T	0.081	0.23632	.	.	0.27132560031	0.26736	0.06164481015293202	0.06104	0.382972438731	0.39630	0.201459959149	0.00501	T	0.059124	0.31030	T	-0.36165	0.04038	T	-0.757261	0.03211	T	0.0508323867332556	0.05645	T	0.756024	0.37907	T	0.041213904	0.06027	0.04124066	0.04644	0.041213904	0.06027	0.04124066	0.04643	-5.092	0.37823	T	.	.	0.066	0.02257	B	.	.	1.142576	0.15300	11.74	0.98445629126539858	0.41564	0.00752	0.03125	N	AEFDBI	0.050936	0.08950	N	-1.11366119687686	0.06399	0.2944523	-1.21024942297574	0.05744	0.2745707	0.999756840206791	0.42595	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	4.72	-6.97	0.01459	-0.603000	0.05770	-3.390000	0.02823	0.537000	0.25018	0.000000	0.06391	0.000000	0.08366	0.629000	0.32131	0.1977:0.0875:0.0954:0.6194	3.396	0.06880	819	0.41190	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	100.78	62	chr19	32999594	.	C	T	100.78	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.89;DP=2162;ExcessHet=0.3300;FS=7.171;InbreedingCoeff=-0.0697;MLEAC=2;MLEAF=0.048;MQ=53.65;MQRankSum=-4.247e+00;QD=0.32;ReadPosRankSum=-2.745e+00;SOR=1.468	GT:AD:DP:GQ:PL	0/0:132,0:132:99:0,110,1800	18	0	3	0
chr19	32999679	32999679	G	A	exonic	RHPN2	.	stopgain	RHPN2:NM_033103:exon10:c.C1132T:p.Q378X,	.	.	392	647	479	4	0	487	0.273442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	8.340	40	4.72	2.174	8.944	17.685	.	.	.	.	0.2531	0.3917	0.1262	0.2590	0.2378	0.2220	0.2567	0.3809	0.0003842	10	26028	rs78615454	1.45e-05	0.0007	1.512e-05	1.387e-05	0.0011	9.32e-06	7.91e-06	0.0005	0.0003	0	2.247e-05	0	0	0	0.0011	9.078e-07	0	0.0002	0	1.97e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.295	0.33360	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195965	0.73516	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.996723	0.99494	44	0.99829210797084544	0.91112	0.99069	0.90771	D	AEFDBI	0.292062	0.40303	N	1.04336661485944	0.96932	15.344	0.880771434466692	0.94678	12.953	0.999999999954891	0.74766	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	4.72	4.72	0.59248	9.105000	0.93598	11.713000	0.94685	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.0:1.0:0.0	17.685	0.88159	819	0.41190	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2050.0	174	chr19	32999679	.	G	A	2050.0	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-2.491e+00;DP=3802;ExcessHet=4.7172;FS=2.492;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=54.90;MQRankSum=-6.014e+00;QD=1.13;ReadPosRankSum=2.20;SOR=0.676	GT:AD:DP:GQ:PL	0/0:160,0:160:99:0,120,1800	12	0	9	0
chr19	33002294	33002294	G	A	exonic	RHPN2	.	nonsynonymous SNV	RHPN2:NM_033103:exon9:c.C1058T:p.A353V,	.	.	416	930	175	1	0	177	0.0868925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.025	B	0.013	B	0.862	N	1.000	N	1.24	L	2.19	T	-0.976	T	0.036	T	0.184	1.276	10.17	-4.16	-0.540	0.178	7.862	0.017	.	.	.	0.0489	0.0732	0.0274	0.0295	0.0985	0.0533	0.0501	0.0231	0.0401418	6206	154602	rs200623446	3.369e-05	0.0015	3.557e-05	3.179e-05	4.663e-05	2.579e-05	2.323e-05	2.211e-05	1.95e-05	3.011e-05	2.254e-05	0	0	0.0002	0	3.071e-05	1.667e-05	4.663e-05	2.629e-05	8.537e-05	2.57e-05	2.691e-05	6.554e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.413e-05	0	6.554e-05	0	0	0	0	2.94e-05	0	0	0.273	0.15876	T	0.175	0.29945	T	0.025	0.19245	B	0.013	0.16460	B	0.861852	0.07121	N	1.055030	1	0.08975	N	1.73	0.44655	L	2.19	0.18724	T	-1.05	0.27463	N	0.056	0.02759	-0.9761	0.35882	T	0.036	0.15422	T	10	0.00880897	0.00200	T	.	.	.	0.017	0.02790	.	.	.	.	0.13735326170944864	0.13659	0.336863465713	0.35684	0.241706997156	0.02946	T	0.067409	0.33193	T	-0.272824	0.11445	T	-0.629669	0.10439	T	0.0116026718024506	0.00176	T	0.557644	0.19406	T	0.036978584	0.04653	0.042462207	0.05062	0.036978584	0.04653	0.042462207	0.05062	-6.372	0.49291	T	.	.	0.097	0.15832	B	.	.	1.139680	0.15271	11.72	0.9756621197538099	0.34653	0.08051	0.14026	N	AEFDBCI	0.100258	0.20164	N	-1.06808318180184	0.07238	0.3356037	-1.15057558226427	0.06758	0.3263656	0.81424142806194	0.24410	0.651	0.46895	0	0.708844	0.79440	0	0.779548	0.98927	0	0.655142	0.61905	0	.	.	4.61	-4.16	0.03606	0.212000	0.17289	-0.081000	0.12176	-2.006000	0.00445	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.2524:0.4684:0.2792	7.862	0.28680	845	0.36510	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	44.98	35	chr19	33002294	.	G	A	44.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.946e+00;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.75;MQRankSum=-8.276e+00;QD=0.64;ReadPosRankSum=2.59;SOR=0.579	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,100,1122	20	0	1	0
chr19	33002295	33002295	C	T	exonic	RHPN2	.	nonsynonymous SNV	RHPN2:NM_033103:exon9:c.G1057A:p.A353T,	.	.	416	929	176	1	0	178	0.0874263	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.006	B	0.004	B	0.862	N	1.000	N	0.145	N	2.26	T	-0.951	T	0.018	T	0.092	0.483	6.623	-0.585	0.142	-0.172	3.922	0.011	.	.	.	0.0485	0.0726	0.0272	0.0293	0.0971	0.0529	0.0498	0.0230	0.0401483	6207	154602	rs201601538	0.0001	0.0016	0.0001	0.0001	0.0001	9.515e-05	8.994e-05	0.0001	0.0001	9.032e-05	0	0	2.528e-05	0.0001	0	0.0001	3.332e-05	2.331e-05	4.602e-05	0.0001	3.855e-05	5.385e-05	8.822e-05	2.11e-05	1.528e-05	3.763e-05	2.575e-05	2.413e-05	0	0	0	0	0	0	8.822e-05	0	0	0.556	0.06461	T	0.374	0.16280	T	0.006	0.13644	B	0.004	0.10090	B	0.861852	0.07121	N	1.055030	1	0.08975	N	-0.06	0.04898	N	2.26	0.17596	T	-0.07	0.08033	N	0.076	0.05037	-0.9512	0.40765	T	0.018	0.07659	T	10	0.009848177	0.00221	T	.	.	.	0.011	0.01250	.	.	.	.	0.09356277676164375	0.09288	0.321356088751	0.34332	0.246419250965	0.03400	T	0.014515	0.12343	T	-0.357698	0.04261	T	-0.751585	0.03424	T	0.0017221306857785	0.00018	T	0.243476	0.03544	T	0.053259224	0.10051	0.05192128	0.08454	0.053259224	0.10051	0.05192128	0.08453	-4.448	0.30203	T	.	.	0.068	0.02797	B	.	.	0.822276	0.11937	8.497	0.94532874845818482	0.25032	0.04587	0.10238	N	AEFDBCI	0.042490	0.06599	N	-1.29400420323804	0.03747	0.1679299	-1.27243951763102	0.04807	0.2276284	0.399316593982747	0.20117	0.631981	0.41245	0	0.653731	0.59785	0	0.779548	0.98927	0	0.655142	0.61905	0	.	.	4.61	-0.585	0.11112	-0.143000	0.10278	-0.504000	0.08785	-0.844000	0.02770	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.1643:0.3914:0.0:0.4443	3.922	0.08747	845	0.36510	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	44.98	35	chr19	33002295	.	C	T	44.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.035e+00;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.75;MQRankSum=-8.276e+00;QD=0.64;ReadPosRankSum=2.72;SOR=0.579	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,100,1122	20	0	1	0
chr19	33175450	33175450	A	G	exonic	WDR88	.	nonsynonymous SNV	WDR88:NM_173479:exon11:c.A1297G:p.M433V,	.	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.000	N	1.000	N	0	N	0.58	T	-0.970	T	0.051	T	0.007	-2.936	0.001	-7.44	-1.922	-1.587	0.988	0.030	0.00499212099781	.	0.000399361	0.0004	9.61e-05	0	0	0	1.498e-05	0	0.0026	0.000304	47	154602	rs570267559	0.0001	0.0001	5.445e-05	0.0002	0.0022	0.0001	0.0001	0.0020	0.0019	0	0	0	0	0	0	1.799e-06	9.935e-05	0.0022	9.193e-05	9.186e-05	2.57e-05	0.0002	0.0029	5.524e-05	4.362e-05	0.0018	0.0014	0	0	0	0	0	0	0	0	0	0.0029	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000258	0.00537	N	5.701970	1	0.08975	N	-0.895	0.01383	N	0.58	0.54149	T	0.26	0.04380	N	0.053	0.02462	-0.9699	0.37220	T	0.051	0.21533	T	10	0.003631413	0.00066	T	0.004992	0.12598	T	0.030	0.07022	0.31	0.28289	0.0297737177859	0.01360	0.08069294633568334	0.08004	0.262815720836	0.28845	0.2794739604	0.07419	T	4.53E-4	0.00158	T	-0.684347	0.00045	T	-0.761342	0.03064	T	0.0246239187072634	0.01224	T	0.262274	0.04237	T	0.028625006	0.02230	0.035288226	0.02752	0.028625006	0.02229	0.035288226	0.02752	-3.628	0.18263	T	.	.	0.065	0.01884	B	.	.	-1.117354	0.00620	0.016	0.35583050103085295	0.02241	0.02894	0.07684	N	AEFBCI	0.035329	0.04528	N	-2.01386941791635	0.00198	0.008463155	-2.05393521844094	0.00234	0.01033676	0.999999938337841	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.658983	0.55881	0	0.638833	0.57524	0	.	.	4.92	-7.44	0.01234	-1.584000	0.02217	-1.472000	0.05362	-0.058000	0.16670	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.2819:0.2197:0.3053:0.1931	0.988	0.01359	702	0.57624	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2119.98	36	chr19	33175450	.	A	G	2119.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.187e+00;DP=875;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=0.576;SOR=0.697	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1229	20	0	1	0
chr19	33215893	33215893	C	T	exonic	SLC7A10	.	nonsynonymous SNV	SLC7A10:NM_019849:exon2:c.G232A:p.V78I,	.	.	419	1101	2	0	0	2	0.000907441	.	.	2333088	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.71	T	0.008	B	0.03	B	0.067	N	1.000	D	0.625	N	-2.68	D	-0.664	T	0.440	T	0.136	1.627	11.40	1.5	0.466	0.583	5.939	0.171	0.0202656663744	7.7e-05	0.000199681	7.299e-05	0.0001	0	0.0003	0	6.595e-05	0	0	5.17e-05	8	154602	rs370643237	4.045e-05	4.036e-05	3.545e-05	4.55e-05	0.0002	3.185e-05	2.917e-05	3.462e-05	3.124e-05	0	4.499e-05	0	2.522e-05	1.893e-05	0.0002	4.501e-05	4.976e-05	1.17e-05	8.534e-05	8.53e-05	0.0001	6.713e-05	0.0004	4.953e-05	3.959e-05	6.842e-05	2.863e-05	4.811e-05	0	0.0002	0	0.0004	0	0	8.82e-05	0	0	0.363	0.11807	T	0.515	0.10643	T	0.008	0.14655	B	0.03	0.21741	B	0.067094	0.21765	N	0.493565	0.568163	0.32271	D	0.795	0.19620	N	-2.68	0.90391	D	-0.63	0.18459	N	0.223	0.25006	-0.6636	0.62117	T	0.440	0.77827	T	10	0.12036559	0.22796	T	0.020266	0.42829	T	0.171	0.43483	.	.	0.621853638575	0.61878	0.332912045256687	0.33204	0.332056083419	0.35265	0.390078693628	0.23680	T	0.285982	0.65877	T	-0.197338	0.21190	T	-0.336596	0.40729	T	0.0237407413877736	0.01113	T	0.852415	0.53747	D	0.059362926	0.12056	0.06493065	0.13085	0.059362926	0.12055	0.06493065	0.13084	-6.099	0.47100	T	.	.	0.071	0.03925	B	.	.	2.721479	0.35600	19.94	0.97893996669518679	0.36690	0.70374	0.34564	D	AEFDGBI	0.251389	0.37126	N	-0.564818403238559	0.20021	1.052387	-0.407857279743887	0.24766	1.358077	0.195680510041145	0.18055	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.79	1.5	0.22029	0.603000	0.23848	1.833000	0.29130	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.995000	0.73285	0.0:0.5084:0.0:0.4916	5.939	0.18419	550	0.72197	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	598.98	34	chr19	33215893	.	C	T	598.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.232;DP=780;ExcessHet=0.0000;FS=0.880;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.49;ReadPosRankSum=1.28;SOR=0.660	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1012	20	0	1	0
chr19	34300591	34300591	G	A	exonic	GARRE1	.	nonsynonymous SNV	GARRE1:NM_014686:exon2:c.G118A:p.A40T,	.	.	430	1048	43	1	0	45	0.0210182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.002	B	0.000	N	0.904	D	-0.805	N	.	.	-1.078	T	0.044	T	0.056	0.012	4.074	1.48	0.713	3.064	7.279	0.172	.	0.0015	0.00878594	0.0065	0.0003	0.0014	0	0.0018	0.0032	0.0100	0.0325	0.0001153	3	26028	rs151200468	0.0041	0.0041	0.0030	0.0052	0.0322	0.0040	0.0040	0.0312	0.0308	0.0003	0.0013	0.0104	7.557e-05	0.0018	0.0113	0.0021	0.0051	0.0322	0.0031	0.0031	0.0023	0.0039	0.0381	0.0028	0.0027	0.0336	0.0319	0.0005	0	0.0025	0.0121	0	0.0018	0	0.0022	0.0066	0.0381	0.768	0.03402	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.000035	0.55875	N	0.159324	0.904177	0.36245	D	-0.46	0.02758	N	.	.	.	1.2	0.01078	N	0.055	0.02658	-1.0783	0.07681	T	0.044	0.19029	T	9	0.003199309	0.00054	T	.	.	.	0.172	0.43662	.	.	0.043077524339	0.03247	0.19238402303310173	0.19156	0.227004266067	0.25252	0.530864715576	0.43156	T	0.018492	0.14898	T	-0.611079	0.00125	T	-0.626174	0.10706	T	0.00255174078607371	0.00027	T	0.824218	0.48580	T	0.0382888	0.05073	0.07576153	0.16713	0.0382888	0.05073	0.07576153	0.16713	-3.316	0.13945	T	.	.	0.060	0.00904	B	.	.	1.931464	0.24533	16.43	0.83865513919071555	0.14963	0.80372	0.40027	D	AEFDGBI	0.126563	0.24355	N	-0.448880095827538	0.23778	1.279312	-0.243438504701772	0.29997	1.685272	0.900097373006502	0.26067	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.25	1.48	0.21900	3.069000	0.49724	5.098000	0.47411	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.444:0.0:0.556:0.0	7.279	0.25476	905	0.23532	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3275.11	33	chr19	34300591	.	G	A	3275.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.092;DP=961;ExcessHet=0.1072;FS=1.469;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=1.32;SOR=0.806	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1313	19	0	2	0
chr19	34342156	34342156	T	C	exonic	GARRE1	.	nonsynonymous SNV	GARRE1:NM_014686:exon10:c.T2222C:p.I741T,	.	.	432	1076	14	0	0	14	0.00646353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.13	B	0.055	B	0.000	D	0.999	D	0.805	L	1.54	T	-1.083	T	0.054	T	0.499	3.635	18.49	5.65	2.150	4.458	9.532	0.085	0.0148172796724	0.0013	0.000798722	0.0016	9.632e-05	0.0003	0	0.0005	0.0021	0.0011	0.0025	0.0014359	222	154602	rs145908385	0.0014	0.0014	0.0013	0.0015	0.0029	0.0013	0.0013	0.0025	0.0024	0.0002	0.0003	0.0199	2.519e-05	0.0004	0.0029	0.0010	0.0025	0.0028	0.0012	0.0012	0.0013	0.0012	0.0021	0.0011	0.0010	0.0011	0.0010	0.0002	0	0.0005	0.0205	0	0.0002	0.0034	0.0013	0.0014	0.0021	0.022	0.48642	D	0.1	0.38742	T	0.13	0.27095	B	0.055	0.25995	B	0.000029	0.55875	D	0.119538	0.998944	0.45735	D	0.975	0.24501	L	1.54	0.30133	T	-1.28	0.32185	N	0.576	0.59816	-1.0828	0.06814	T	0.054	0.22921	T	10	0.008531302	0.00193	T	0.014817	0.35183	T	0.085	0.24743	.	.	0.082315109003	0.07666	0.10805245265841971	0.10734	0.332956946099	0.35338	0.395007580519	0.24373	T	0.062233	0.31862	T	-0.414698	0.01851	T	-0.372765	0.36566	T	0.0285525306430237	0.01769	T	0.768923	0.39853	T	0.05121029	0.09370	0.08773982	0.20413	0.05121029	0.09370	0.08773982	0.20412	-1.404	0.01579	T	.	.	0.144	0.31758	B	.	.	3.176140	0.43089	21.7	0.99811508799186421	0.89531	0.96395	0.68928	D	AEFDBI	0.299181	0.40830	N	0.0316287033590267	0.43297	2.625488	0.221066606803657	0.51017	3.288059	0.972996621385707	0.29417	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.65	5.65	0.86881	4.438000	0.59704	4.204000	0.42488	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0781:0.0:0.9219	9.532	0.38363	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2081.98	35	chr19	34342156	.	T	C	2081.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.551e+00;DP=900;ExcessHet=0.0000;FS=1.854;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=0.936;SOR=0.692	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	20	0	1	0
chr19	34377847	34377847	A	G	exonic	GPI	.	nonsynonymous SNV	GPI:NM_001289790:exon5:c.A515G:p.N172S	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.024	B	0.04	B	0.000	N	0.998	D	1.57	L	-3.29	D	0.012	D	0.680	D	0.091	2.404	14.00	3.3	0.347	4.466	8.378	0.326	0.0413937599299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.34800	T	0.199	0.34959	T	0.0	0.02946	B	0.003	0.08700	B	0.000012	0.62929	N	0.174294	0.997669	0.44080	D	2.155	0.60227	M	-3.29	0.93740	D	-3.16	0.64246	D	0.116	0.10483	0.012	0.82502	D	0.680	0.88951	D	10	0.46471924	0.59500	T	0.041394	0.59904	D	0.326	0.64826	0.52	0.62217	0.891725395736	0.89066	0.6649876103380037	0.66435	0.38830470761	0.40095	0.435250401497	0.29927	T	0.929655	0.98801	D	-0.0167342	0.49317	T	-0.261814	0.48642	T	0.603600442409515	0.36543	D	0.909409	0.69895	D	0.26182705	0.49242	0.19967677	0.43860	0.26182705	0.49242	0.19967677	0.43859	-4.064	0.54114	T	0.18549861443443827	0.24106	0.082	0.21011	B	.;.;.;.;.	.;.;.;.;.	1.388626	0.18007	13.50	0.98043173160710906	0.37805	0.96632	0.70119	D	AEFDGBI	0.865902	0.78516	D	-0.36483198758358	0.26730	1.461112	-0.244745962078664	0.29952	1.68236	0.733977090341996	0.23098	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.41	3.3	0.36912	4.456000	0.59820	3.834000	0.40009	-0.054000	0.16847	1.000000	0.71638	1.000000	0.68203	0.276000	0.23917	0.7983:0.1323:0.0694:0.0	8.378	0.31614	933	0.16026	Phosphoglucose isomerase, SIS domain 1;.;Phosphoglucose isomerase, SIS domain 1;.;Phosphoglucose isomerase, SIS domain 1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1194.98	33	chr19	34377847	.	A	G	1194.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.900e-02;DP=846;ExcessHet=0.0000;FS=0.737;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.06;ReadPosRankSum=1.33;SOR=0.836	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1214	20	0	1	0
chr19	34396616	34396616	G	A	exonic	GPI	.	nonsynonymous SNV	GPI:NM_001289790:exon13:c.G1144A:p.V382I	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.633	P	0.338	B	0.000	D	1.000	D	0.96	L	-3.33	D	0.491	D	0.717	D	0.213	4.699	26.0	5.61	2.647	9.854	19.622	0.445	0.106563349838	.	0.000399361	0.0003	0	8.699e-05	0	0.0002	0	0.0011	0.0018	0.0002329	36	154602	rs546774763	0.0001	0.0001	4.764e-05	0.0002	0.0022	0.0001	0.0001	0.0020	0.0019	0	0	0	0	5.616e-05	0	7.194e-06	8.279e-05	0.0022	7.88e-05	7.875e-05	2.57e-05	0.0001	0.0021	4.494e-05	3.51e-05	0.0011	0.0009	0	0	0	0	0	9.42e-05	0	1.47e-05	0	0.0021	0.087	0.32453	T	0.281	0.21612	T	0.008	0.14655	B	0.024	0.20255	B	0.000000	0.84330	D	0.053082	1	0.81001	D	1.02	0.25474	L	-3.33	0.93928	D	-0.63	0.18459	N	0.423	0.46274	0.491	0.90422	D	0.717	0.90279	D	10	0.03589052	0.01860	T	0.106563	0.78223	D	0.445	0.74727	0.429	0.47680	0.888217798927	0.88711	0.5049246871764925	0.50414	0.397204867284	0.40817	0.536404967308	0.43938	T	0.674772	0.90386	D	-0.221059	0.17849	T	-0.109327	0.62665	T	0.1435559677927	0.16577	T	0.982402	0.94055	D	0.25581336	0.48617	0.2322554	0.48381	0.27587935	0.50651	0.30942988	0.56957	-7.658	0.58715	D	0.12177937602975974	0.11594	0.093	0.13969	B	.;.;.;.	.;.;.;.	3.870157	0.56179	23.7	0.99790408819588905	0.87661	0.99611	0.97971	D	AEFDBI	0.934077	0.92692	D	0.248390700314389	0.53558	3.524272	0.431003576607389	0.63505	4.585672	0.999999999929585	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.61	5.61	0.85347	9.987000	0.99199	9.956000	0.82762	0.657000	0.54293	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.622	0.95655	924	0.18029	Phosphoglucose isomerase, SIS domain 2;.;Phosphoglucose isomerase, SIS domain 2;Phosphoglucose isomerase, SIS domain 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1354.98	36	chr19	34396616	.	G	A	1354.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=819;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.67;ReadPosRankSum=-5.200e-01;SOR=0.726	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1200	20	0	1	0
chr19	34404769	34404769	G	T	exonic	PDCD2L	.	nonsynonymous SNV	PDCD2L:NM_001353433:exon2:c.G229T:p.V77L	.	.	424	1094	4	0	0	4	0.00182482	.	.	2343564	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.33	T	0.794	P	0.199	B	0.000	D	1.000	D	1.385	L	.	.	-0.973	T	0.122	T	0.606	4.135	21.3	5.04	2.325	4.066	16.160	0.138	0.0167952062519	7.7e-05	.	0.0004	0	0.0001	0	0.0007	0.0004	0	0.0007	0.0002458	38	154602	rs202226528	0.0004	0.0004	0.0004	0.0004	0.0016	0.0004	0.0004	0.0008	0.0006	8.978e-05	9.031e-05	0	0	0.0004	0.0016	0.0004	0.0006	0.0008	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0004	0.0003	4.809e-05	0	0.0001	0	0	0.0002	0.0034	0.0005	0.0005	0.0004	0.167	0.23095	T	0.327	0.25362	T	0.794	0.44757	P	0.199	0.36804	B	0.000254	0.46924	D	0.140503	0.99985	0.49910	D	1.8	0.47472	L	.	.	.	-1.21	0.30762	N	0.617	0.63289	-0.9730	0.36562	T	0.122	0.42420	T	9	0.12001422	0.22723	T	0.016795	0.38225	T	0.138	0.37187	0.5	0.59147	0.0954503805726	0.09146	0.5787450335108484	0.57803	0.183322869054	0.20616	0.711546778679	0.68817	T	0.04322	0.26433	T	-0.253499	0.13672	T	-0.219942	0.52743	T	0.0687943771481514	0.08481	T	0.842416	0.51891	T	0.15419336	0.34913	0.179676	0.40718	0.15419336	0.34912	0.179676	0.40717	-3.288	0.13583	T	.	.	0.321	0.54558	B	.;.	.;.	4.026073	0.59503	24.1	0.98603416835121704	0.43533	0.85259	0.44376	D	AEFDGBHCI	0.451826	0.50564	N	0.113207699234417	0.47079	2.938638	0.182282922697209	0.48875	3.097818	0.999999999999999	0.74766	0.493124	0.18060	0	0.52208	0.09955	0	0.52208	0.10781	0	0.627883	0.49187	0	.	.	5.04	5.04	0.67293	4.570000	0.60586	11.530000	0.93084	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.758000	0.36073	0.0:0.0:1.0:0.0	16.160	0.81506	939	0.14249	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	656.98	37	chr19	34404769	.	G	T	656.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.944;DP=770;ExcessHet=0.0000;FS=0.947;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.25;ReadPosRankSum=0.312;SOR=0.489	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1094	20	0	1	0
chr19	34482146	34482146	G	A	exonic	WTIP	.	nonsynonymous SNV	WTIP:NM_001080436:exon1:c.G172A:p.G58S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.0	B	.	.	0.996	N	0	N	0.08	T	-1.043	T	0.073	T	0.166	1.307	10.28	-0.549	0.143	0.310	4.016	0.052	0.621428551056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.092e-06	3.42e-06	2.055e-06	0	1.225e-06	0	0	.	.	0	0	0	0	0	0	1.225e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.774	0.04416	T	.	.	.	.	.	.	.	.	.	.	0.996303	0.23055	N	0	0.06538	N	0.15	0.60734	T	.	.	.	0.074	0.04790	-1.0427	0.16503	T	0.073	0.29643	T	9	0.120030075	0.22727	T	0.621429	0.96723	D	.	.	.	.	0.136095386433	0.13204	0.22875010262863435	0.22790	1.04198484188	0.75827	0.898856461048	0.96312	D	0.002883	0.02278	T	-0.164699	0.26039	T	-0.474355	0.25049	T	0.15613429248333	0.17581	T	0.377862	0.09067	T	0.073577575	0.16450	0.1462625	0.34658	0.073577575	0.16450	0.1462625	0.34657	-4.018	0.24072	T	.	.	0.099	0.16626	B	.	.	2.471054	0.31848	18.87	0.99054400304476897	0.51321	0.05887	0.11836	N	AEFDBHCI	0.044233	0.07091	N	-0.903061971836578	0.10770	0.5163141	-0.850170222620757	0.13284	0.6882422	0.999998837093163	0.74766	0.65757	0.49021	0	0.59043	0.45803	0	0.619478	0.44681	0	0.621717	0.48901	0	.	.	1.88	-0.549	0.11237	0.496000	0.22207	1.973000	0.29997	0.257000	0.18371	0.006000	0.17386	0.608000	0.25754	0.028000	0.12845	0.4279:0.0:0.5721:0.0	4.016	0.09130	906	0.23090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	36.27	2	chr19	34482146	.	G	A	36.27	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.29;DP=291;ExcessHet=0.0000;FS=3.310;InbreedingCoeff=-0.0419;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=-4.930e-01;SOR=2.303	GT:AD:DP:GQ:PL	0/0:8,0:8:24:0,24,234	20	0	1	0
chr19	34685134	34685134	A	G	exonic	ZNF302	.	nonsynonymous SNV	ZNF302:NM_001012320:exon5:c.A1097G:p.K366R	.	.	416	1095	11	0	0	11	0.00499773	.	.	704917	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.515	P	0.108	B	.	.	1.000	N	1.03	L	2.07	T	-1.036	T	0.016	T	0.013	-0.312	2.516	0.967	0.686	4.259	6.111	0.080	.	0.0075	0.00638978	0.0031	0.0218	0.0040	0	0	0.0015	0.0011	0.0006	0.0028913	447	154602	rs116552744	0.0015	0.0015	0.0016	0.0014	0.0182	0.0014	0.0014	0.0170	0.0165	0.0182	0.0047	0.0091	0	0	0.0131	0.0007	0.0037	0.0005	0.0062	0.0062	0.0063	0.0061	0.0182	0.0059	0.0058	0.0171	0.0167	0.0182	0	0.0045	0.0084	0	0	0.0170	0.0009	0.0113	0.0002	0.0	0.91255	D	0.086	0.83351	T	0.515	0.37421	P	0.108	0.31289	B	.	.	.	.	0.999981	0.18198	N	.	.	.	2.07	0.20387	T	-1.02	0.26843	N	0.103	0.11626	-1.0358	0.18606	T	0.016	0.06664	T	9	0.005551189	0.00123	T	.	.	.	0.080	0.23350	.	.	0.180583059064	0.17676	0.007357891255814509	0.00701	0.0474061202709	0.05171	0.308032184839	0.11610	T	0.048564	0.28053	T	-0.631509	0.00094	T	-0.6643	0.07979	T	0.0696614205693027	0.08604	T	0.241376	0.03802	T	.	.	.	.	.	.	.	.	-5.335	0.40288	T	.	.	0.082	0.12228	B	.;.;.;.;.;.	.;.;.;.;.;.	2.568531	0.33279	19.29	0.97247868348400479	0.33029	0.60667	0.31261	D	AEFGBCI	.	.	.	-0.549955337796814	0.20484	1.080221	-0.627682558336319	0.18782	1.004916	0.629236055889213	0.21953	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	0.967	0.967	0.18792	3.140000	0.50281	2.198000	0.31263	0.393000	0.20503	1.000000	0.71638	0.114000	0.22828	0.566000	0.30555	1.0:0.0:0.0:0.0	6.111	0.19321	484	0.77165	Zinc finger C2H2-type;Zinc finger C2H2-type;.;.;.;Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2743.98	42	chr19	34685134	.	A	G	2743.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.380e-01;DP=1019;ExcessHet=0.0000;FS=5.565;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=0.845;SOR=0.537	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1303	20	0	1	0
chr19	34760091	34760091	C	T	exonic	ZNF599	.	nonsynonymous SNV	ZNF599:NM_001007248:exon4:c.G710A:p.R237H,	.	.	406	1115	1	0	0	1	0.000448229	.	.	2808505	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.08	T	0.007	B	0.004	B	.	.	1.000	N	1.66	L	1.58	T	-1.001	T	0.058	T	0.196	-0.491	1.744	0.022	0.077	-3.005	2.945	0.012	0.00279576541283	0.0021	0.000798722	0.0020	0.0003	0.0013	0	0.0026	0.0028	0.0033	0.0010	0.0019599	303	154602	rs149040820	0.0021	0.0021	0.0021	0.0021	0.0024	0.0021	0.0020	0.0023	0.0023	0.0003	0.0013	0.0009	0.0001	0.0036	0.0012	0.0024	0.0014	0.0006	0.0023	0.0023	0.0024	0.0022	0.0032	0.0021	0.0020	0.0029	0.0027	0.0002	0.0746	0.0012	0.0006	0.0002	0.0028	0	0.0032	0.0005	0.0010	0.196	0.20683	T	0.075	0.42794	T	0.007	0.14184	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.695	0.43389	L	1.58	0.29085	T	-1.24	0.31375	N	0.041	0.01421	-1.0006	0.29746	T	0.058	0.24317	T	9	0.0029852688	0.00049	T	0.002796	0.05810	T	0.012	0.01476	.	.	0.173771789658	0.16945	0.0576256648896432	0.05703	0.0384345900939	0.04090	0.345471978188	0.17253	T	0.00676	0.06189	T	-0.594298	0.00158	T	-0.62411	0.10866	T	0.00739983902753562	0.00085	T	0.0548945	0.00396	T	0.062342223	0.13010	0.054900922	0.09529	0.062342223	0.13010	0.054900922	0.09529	-4.727	0.33730	T	.	.	0.309	0.53663	B	.	.	1.108561	0.14936	11.45	0.93666704466378747	0.23560	0.00006	0.00120	N	AEFBHCI	0.025861	0.01843	N	-1.02943828701703	0.07997	0.3734369	-1.13716503351961	0.07000	0.3389341	4.07930318717342E-4	0.06860	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	2.26	0.022	0.13450	-2.089000	0.01445	-7.385000	0.01168	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.882000	0.42233	0.0:0.4517:0.2406:0.3077	2.945	0.05483	332	0.86382	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2225.98	39	chr19	34760091	.	C	T	2225.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.837e+00;DP=899;ExcessHet=0.0000;FS=4.484;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=0.170;SOR=0.437	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1229	20	0	1	0
chr19	34944059	34944059	A	G	exonic	ZNF30	.	nonsynonymous SNV	ZNF30:NM_001099437:exon5:c.A1096G:p.I366V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.453	P	0.212	B	.	.	1.000	N	0.905	L	2.39	T	-1.018	T	0.028	T	0.104	1.282	10.19	2.07	0.958	-0.031	3.822	0.015	0.00140903308642	.	.	8.262e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs763987647	4.104e-06	4.104e-06	1.361e-06	6.875e-06	0.0007	1.48e-06	9.7e-07	0.0002	0.0001	0	0	0	0	0	0.0007	0	0	2.319e-05	6.575e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.1	0.30515	T	0.066	0.44501	T	0.453	0.36131	P	0.212	0.37394	B	.	.	.	.	0.999736	0.21065	N	1.29	0.32370	L	2.39	0.15724	T	-0.48	0.15379	N	0.071	0.04426	-1.0179	0.24398	T	0.028	0.12058	T	9	0.08120075	0.13267	T	0.001409	0.02088	T	0.015	0.02232	0.437	0.48993	0.326345978581	0.32251	0.007285345446261801	0.00694	0.0366474967107	0.03882	0.489442437887	0.37360	T	0.016334	0.13521	T	-0.38329	0.02970	T	-0.691492	0.06303	T	0.057941896160595	0.06841	T	0.369163	0.08660	T	0.05360015	0.10168	0.046629887	0.06541	0.05360015	0.10167	0.046629887	0.06541	-4.967	0.36479	T	.	.	0.247	0.50527	B	.;.;.	.;.;.	0.254201	0.06330	2.793	0.89114671426111347	0.18523	0.11018	0.16351	N	AEFDGBHCI	0.096785	0.19532	N	-0.817057712034015	0.12874	0.6304317	-0.918604993923066	0.11656	0.5951203	0.204816848841402	0.18168	0.615465	0.37627	0	0.633656	0.55848	0	0.575934	0.27490	0	0.636168	0.56350	0	.	.	2.07	2.07	0.26004	0.385000	0.20413	-7.611000	0.01121	0.592000	0.32167	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.8068:0.0:0.1932:0.0	3.822	0.08355	302	0.87871	.;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1873.98	101	chr19	34944059	.	A	G	1873.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.152e+00;DP=1520;ExcessHet=0.0000;FS=4.351;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.35;ReadPosRankSum=0.387;SOR=0.450	GT:AD:DP:GQ:PL	0/0:75,0:75:99:0,120,1800	20	0	1	0
chr19	34958015	34958015	C	T	exonic	ZNF792	.	nonsynonymous SNV	ZNF792:NM_175872:exon4:c.G1840A:p.A614T,	.	.	428	1075	19	0	0	19	0.0087598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.005	B	0.002	B	.	.	1.000	N	0	N	3.34	T	-0.936	T	0.008	T	0.16	2.553	14.50	0.355	0.157	-0.137	1.006	0.033	.	0.0002	0.0197684	0.0113	0.0002	0.0010	0.0100	0	0.0003	0.0085	0.0785	0.0095212	1472	154602	rs200278064	0.0047	0.0047	0.0029	0.0065	0.0703	0.0046	0.0046	0.0688	0.0682	0.0003	0.0005	0.0013	0.0070	0.0003	0.0035	0.0001	0.0060	0.0703	0.0028	0.0028	0.0015	0.0041	0.0728	0.0026	0.0025	0.0665	0.0640	0.0002	0	0.0001	0.0026	0.0071	0	0	0.0001	0.0019	0.0728	0.084	0.32929	T	0.372	0.19362	T	0.005	0.12996	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.34	0.06063	T	-0.2	0.10136	N	0.14	0.13911	-0.9359	0.43257	T	0.008	0.02926	T	9	0.0024052262	0.00036	T	.	.	.	0.033	0.08068	.	.	.	.	0.13585855362880117	0.13509	0.247095792662	0.27244	0.224681705236	0.01598	T	0.002028	0.10204	T	-0.646089	0.00076	T	-0.648189	0.09081	T	0.0184147399786136	0.00558	T	0.390461	0.09684	T	0.036278095	0.04431	0.05228279	0.08582	0.036278095	0.04430	0.05228279	0.08581	-2.71	0.07387	T	.	.	0.069	0.03093	B	.;.	.;.	1.257329	0.16549	12.61	0.99372635559404843	0.61498	0.00058	0.00432	N	AEFDBHCI	0.031105	0.03259	N	-1.10928015456417	0.06477	0.2982812	-1.15851108829091	0.06616	0.3190628	0.317559909742204	0.19351	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	2.64	0.355	0.15305	0.283000	0.18605	-2.383000	0.03823	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2321:0.3876:0.2278:0.1524	1.006	0.01394	307	0.87649	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1292.98	37	chr19	34958015	.	C	T	1292.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.760e-01;DP=1202;ExcessHet=0.0000;FS=2.616;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=-7.890e-01;SOR=0.601	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,120,1800	20	0	1	0
chr19	34958041	34958041	C	G	exonic	ZNF792	.	nonsynonymous SNV	ZNF792:NM_175872:exon4:c.G1814C:p.S605T,	.	.	426	1077	19	0	0	19	0.00874367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	.	.	1.000	N	0	N	3.37	T	-0.933	T	0.006	T	0.126	-1.987	0.007	-3.6	-0.750	.	1.076	0.012	.	7.7e-05	0.0197684	0.0112	0.0002	0.0009	0.0099	0	4.833e-05	0.0085	0.0772	0.0093919	1452	154602	rs201800628	0.0046	0.0046	0.0028	0.0064	0.0702	0.0045	0.0045	0.0687	0.0681	0.0003	0.0005	0	0.0070	0	0.0028	3.239e-05	0.0057	0.0702	0.0027	0.0027	0.0014	0.0040	0.0732	0.0025	0.0024	0.0669	0.0644	0.0002	0	0.0001	0	0.0071	0	0	5.879e-05	0.0019	0.0732	0.855	0.02705	T	0.479	0.12562	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.37	0.05847	T	-0.01	0.07155	N	0.142	0.14196	-0.9333	0.43650	T	0.006	0.02055	T	9	0.0021786094	0.00031	T	.	.	.	0.012	0.01476	.	.	.	.	0.0653250227160099	0.06471	0.16430499449	0.18538	0.245909079909	0.03349	T	4.45E-4	0.05823	T	-0.734228	0.00022	T	-0.774795	0.02614	T	0.000397459311521812	0.00003	T	0.160684	0.01448	T	0.023038864	0.01011	0.03799009	0.03572	0.023038864	0.01010	0.03799009	0.03571	-3.949	0.23038	T	.	.	0.068	0.03625	B	.;.	.;.	0.131981	0.05276	1.772	0.60119208613842268	0.06386	0.00090	0.00598	N	AEFDBHCI	0.038494	0.05455	N	-1.80736661476347	0.00527	0.02270495	-1.85435263990769	0.00600	0.02666944	0.654660405635976	0.22203	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	2.27	-3.6	0.04277	-0.933000	0.04067	-5.939000	0.01546	-0.995000	0.01833	0.001000	0.13787	0.000000	0.08366	0.231000	0.22761	0.1689:0.4061:0.1664:0.2586	1.076	0.01530	307	0.87649	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1339.98	37	chr19	34958041	.	C	G	1339.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.259e+00;DP=1196;ExcessHet=0.0000;FS=0.782;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.41;ReadPosRankSum=-2.625e+00;SOR=0.558	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,120,1800	20	0	1	0
chr19	35021541	35021541	C	G	exonic	GRAMD1A	.	nonsynonymous SNV	GRAMD1A:NM_001136199:exon13:c.C1494G:p.S498R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.995	D	0.901	P	0.000	D	0.999	D	1.61	L	1.8	T	-1.029	T	0.104	T	0.686	2.432	14.09	3.26	2.255	0.047	10.418	0.239	0.0163827734438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	0.995	0.67487	D	0.763	0.63994	P	0.000000	0.84330	D	0.000000	0.99737	0.45372	D	.	.	.	1.8	0.25344	T	-2.74	0.58248	D	0.776	0.77789	-1.0286	0.20908	T	0.104	0.38218	T	10	0.5404353	0.63688	D	0.016383	0.37609	T	0.239	0.54358	0.392	0.41606	0.043077524339	0.03247	0.688902099595261	0.68830	0.745302754935	0.63487	0.670979619026	0.62977	T	0.100694	0.61579	T	0.0129505	0.53427	T	-0.219174	0.52816	T	0.970659017562866	0.69028	D	0.889511	0.79487	D	0.6618723	0.75999	0.5739654	0.75322	0.6618723	0.76000	0.5739654	0.75323	-12.394	0.86717	D	.	.	0.967	0.88969	P	.;.;.	.;.;.	3.913118	0.57078	23.8	0.99539824292381929	0.70398	0.63826	0.32211	D	AEFBCI	0.169044	0.29585	N	0.367177882577364	0.59652	4.146445	0.330031269384454	0.57311	3.896445	0.0287296184191407	0.13848	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.33	3.26	0.36471	0.635000	0.24318	2.991000	0.35881	0.549000	0.26987	0.998000	0.41325	1.000000	0.68203	0.996000	0.76049	0.0:0.8992:0.0:0.1008	10.418	0.43519	889	0.27310	VASt domain|VASt domain;VASt domain|VASt domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1159.98	41	chr19	35021541	.	C	G	1159.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.401e+00;DP=819;ExcessHet=0.0000;FS=5.564;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.65;ReadPosRankSum=1.12;SOR=0.641	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1106	20	0	1	0
chr19	35033703	35033703	G	A	exonic	SCN1B	.	nonsynonymous SNV	SCN1B:NM_001037:exon3:c.G412A:p.V138I	Atrial fibrillation, familial, 13, Autosomal dominant;Brugada syndrome 5;Cardiac conduction defect, nonspecific;Epilepsy, generalized, with febrile seizures plus, type 1, Autosomal dominant;Epileptic encephalopathy, early infantile, 52, Autosomal recessive	.	0	1497	25	0	0	25	0.00828089	.	.	178737	Generalized_epilepsy_with_febrile_seizures_plus,_type_1|Brugada_syndrome_5|Cardiovascular_phenotype|not_specified|Long_QT_syndrome|not_provided	MONDO:MONDO:0011416,MedGen:C1858672,OMIM:604233,Orphanet:36387|MONDO:MONDO:0013015,MedGen:C2748541,OMIM:612838,Orphanet:130,Orphanet:871|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.29	T	0.933	P	0.438	B	0.058	N	0.989	D	0.345	N	-2.23	D	0.604	D	0.795	D	0.096	3.990	20.4	4.22	2.351	1.347	12.276	0.262	.	0.0002	0.0209665	0.0117	0.0011	0.0008	0.0057	0	0.0001	0.0155	0.0804	0.0103621	1602	154602	rs72558029	0.0052	0.0052	0.0031	0.0072	0.0784	0.0051	0.0050	0.0768	0.0762	0.0007	0.0003	0	0.0030	1.872e-05	0.0035	8.453e-05	0.0086	0.0784	0.0034	0.0035	0.0020	0.0049	0.0882	0.0032	0.0031	0.0813	0.0785	0.0009	0	0.0002	0	0.0085	0	0	5.88e-05	0.0052	0.0882	0.398	0.26085	T	0.643	0.24477	T	0.279	0.52105	B	0.013	0.45631	B	0.058319	0.22412	N	0.436536	0.989249	0.40915	D	0.445	0.12748	N	-4.53	0.97713	D	-0.53	0.16393	N	0.041	0.01421	0.604	0.91953	D	0.795	0.93057	D	10	0.0017569363	0.00023	T	.	.	.	0.262	0.57482	.	.	.	.	0.6908096357470496	0.69020	0.712814376389	0.61783	0.553019821644	0.46284	T	0.075724	0.35245	T	-0.332975	0.05890	T	-0.191892	0.55411	T	0.00667188954088941	0.00075	T	0.755224	0.39577	T	0.068868704	0.15040	0.051318746	0.08236	0.089256935	0.20848	0.051318746	0.08236	-3.791	0.29312	T	0.11411305614658733	0.10062	0.075	0.26638	B	.;.;.;.;.	.;.;.;.;.	2.971009	0.39600	21.0	0.99838461454441818	0.91886	0.75004	0.36706	D	AEFBI	0.187454	0.31475	N	-0.0515020911810638	0.39536	2.333031	0.0647403313162013	0.42791	2.594436	0.958561964384985	0.28371	0.706548	0.73137	0	0.610034	0.51514	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.22	4.22	0.49153	2.945000	0.48735	5.616000	0.49070	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	12.276	0.54054	895	0.25842	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	6878.11	34	chr19	35033703	.	G	A	6878.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.56;DP=1299;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.93;ReadPosRankSum=-1.130e-01;SOR=0.659	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1377	19	0	2	0
chr19	35034040	35034040	G	A	exonic	SCN1B	.	nonsynonymous SNV	SCN1B:NM_199037:exon3:c.G749A:p.R250K,	Atrial fibrillation, familial, 13, Autosomal dominant;Brugada syndrome 5;Cardiac conduction defect, nonspecific;Epilepsy, generalized, with febrile seizures plus, type 1, Autosomal dominant;Epileptic encephalopathy, early infantile, 52, Autosomal recessive	.	0	1023	424	67	8	566	0.214286	.	.	142703	not_specified|Brugada_syndrome_5|not_provided	MedGen:CN169374|MONDO:MONDO:0013015,MedGen:C2748541,OMIM:612838,Orphanet:130,Orphanet:871|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.001	B	0.005	B	.	.	1.000	N	.	.	-2.5	D	-0.696	T	0.422	T	0.055	1.698	11.64	1.84	0.750	0.862	5.129	0.066	0.160508226875	.	.	0.0021	0	0	0	0	0	0	0.0056	0.0003493	54	154602	rs67486287	0.0004	0.0004	0.0002	0.0005	0.0050	0.0003	0.0003	0.0046	0.0044	3.167e-05	0	0	0	0.0003	0.0012	8.535e-05	0.0003	0.0050	0.0002	0.0002	0.0003	0.0002	0.0036	0.0002	0.0001	0.0023	0.0019	7.222e-05	0	6.54e-05	0	0	0.0004	0	0.0001	0	0.0036	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	.	.	.	-2.5	0.89219	D	0.04	0.06488	N	0.128	0.12198	-0.6958	0.60638	T	0.422	0.76690	T	7	0.0056346953	0.00125	T	0.160508	0.84049	D	0.066	0.19193	.	.	0.838933210626	0.83739	0.21564272185818187	0.21480	0.808974901303	0.66653	0.322735607624	0.13834	T	.	.	.	-0.447311	0.01171	T	-0.414354	0.31723	T	0.0473435855948184	0.05026	T	0.30317	0.05747	T	.	.	.	.	.	.	.	.	-4.533	0.31318	T	.	.	0.140	0.30582	B	.;.	.;.	1.079695	0.14625	11.19	0.94618903739937421	0.25195	0.05869	0.11816	N	AEFDBI	.	.	.	-0.849269867299264	0.12067	0.5860141	-0.92625456353889	0.11475	0.5848372	0.617690011430573	0.21857	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.491896	0.07777	0	.	.	2.9	1.84	0.24348	0.409000	0.20803	1.480000	0.26815	0.665000	0.62972	0.004000	0.16614	0.005000	0.19230	0.005000	0.06747	0.1738:0.0:0.8262:0.0	5.129	0.14233	895	0.25842	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.1429	11159.49	111	chr19	35034040	.	G	C,A	11159.49	.	AC=4,2;AF=0.095,0.048;AN=42;BaseQRankSum=-5.360e-01;DP=1237;ExcessHet=1.7912;FS=0.520;InbreedingCoeff=-0.1667;MLEAC=4,2;MLEAF=0.095,0.048;MQ=60.00;MQRankSum=0.00;QD=16.46;ReadPosRankSum=-2.200e-02;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0,0:35:99:.:.:0,99,1377,99,1377,1377	15	0	4	0
chr19	35039676	35039676	G	A	exonic	SCN1B	.	nonsynonymous SNV	SCN1B:NM_001037:exon5:c.G632A:p.C211Y	Atrial fibrillation, familial, 13, Autosomal dominant;Brugada syndrome 5;Cardiac conduction defect, nonspecific;Epilepsy, generalized, with febrile seizures plus, type 1, Autosomal dominant;Epileptic encephalopathy, early infantile, 52, Autosomal recessive	.	0	1517	5	0	0	5	0.00164528	.	.	188707	Cardiovascular_phenotype|Developmental_and_epileptic_encephalopathy,_52|not_provided|Brugada_syndrome_5	MedGen:CN230736|MONDO:MONDO:0033361,MedGen:C4479236,OMIM:617350|MedGen:C3661900|MONDO:MONDO:0013015,MedGen:C2748541,OMIM:612838,Orphanet:130,Orphanet:871	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.995	D	0.979	D	0.000	D	1.000	D	2.175	M	-4.78	D	1.027	D	0.944	D	0.799	4.391	23.2	3.91	2.299	6.863	8.254	0.666	0.279023410017	0.0003	0.000399361	0.0005	0	0.0012	0	0	0.0005	0.0044	0.0004	0.0004075	63	154602	rs150721582	0.0003	0.0003	0.0002	0.0003	0.0088	0.0003	0.0003	0.0069	0.0062	0.0005	0.0009	0	0	3.744e-05	0.0088	0.0002	0.0008	0.0005	0.0003	0.0003	0.0002	0.0003	0.0008	0.0002	0.0002	0.0003	0.0002	4.81e-05	0	0.0003	0	0	0	0.0102	0.0003	0.0014	0.0008	0.0	0.91255	D	0.0	0.92824	D	0.995	0.67487	D	0.979	0.74454	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.165	0.60562	M	-4.78	0.98140	D	-4.77	0.80425	D	0.764	0.82057	1.027	0.97657	D	0.944	0.98156	D	10	0.47279036	0.59964	T	0.279023	0.90162	D	0.666	0.87576	.	.	0.996533669744	0.99649	.	.	.	.	.	.	.	0.521603	0.83280	D	0.118239	0.66195	D	0.321652	0.89160	D	0.406165271997452	0.29174	T	0.936606	0.78939	D	0.756248	0.81232	0.71066374	0.82932	0.8196357	0.85196	0.8592326	0.92127	-3.744	0.19970	T	.	.	0.929	0.87684	P	.;.;.;.	.;.;.;.	5.210044	0.87424	29.2	0.99741752268504469	0.83555	0.87531	0.47101	D	AEFDBCI	0.847072	0.76393	D	0.716296007391641	0.80701	7.352864	0.670035857781756	0.80110	7.226618	0.999999962124338	0.74766	0.615465	0.37627	0	0.626922	0.53725	0	0.584781	0.30282	0	0.655142	0.61905	0	.	.	4.95	3.91	0.44383	7.152000	0.77009	11.689000	0.94328	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.1063:0.0:0.8937:0.0	8.254	0.30904	895	0.25842	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	939.98	37	chr19	35039676	.	G	A	939.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=798;ExcessHet=0.0000;FS=0.836;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=-8.130e-01;SOR=0.557	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	20	0	1	0
chr19	35227960	35227960	T	C	exonic	FAM187B	.	nonsynonymous SNV	FAM187B:NM_152481:exon1:c.A721G:p.R241G,	.	.	427	1094	1	0	0	1	0.00045683	0.9968	0.968	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.964	D	0.000	D	0.646	D	1.995	M	1.03	T	-0.666	T	0.109	T	0.298	2.529	14.42	3.88	0.794	2.180	8.152	0.298	.	0.0085	0.00778754	0.0023	0.0233	0.0017	0	0	3.105e-05	0	0	0.0021151	327	154602	rs141317302	0.0007	0.0007	0.0008	0.0005	0.0243	0.0006	0.0006	0.0229	0.0224	0.0243	0.0015	0	0	0	0.0017	7.235e-06	0.0015	5.91e-05	0.0072	0.0072	0.0072	0.0072	0.0254	0.0069	0.0067	0.0241	0.0236	0.0254	0	0.0026	0	0	0	0	1.47e-05	0.0014	0	0.01	0.56456	D	0.0	0.92824	D	0.998	0.73220	D	0.964	0.71005	D	0.000091	0.51296	D	0.000000	0.646213	0.32921	D	1.905	0.50856	L	1.03	0.40469	T	-4.27	0.76254	D	0.67	0.67822	-0.6662	0.62000	T	0.109	0.39462	T	10	0.015402585	0.00323	T	.	.	.	0.298	0.61843	.	.	0.533227312814	0.52972	0.7858956404017143	0.78540	0.988945706212	0.74000	0.349080264568	0.17786	T	0.07348	0.34707	T	-0.474621	0.00796	T	-0.434265	0.29453	T	0.0357468306375427	0.02936	T	0.569643	0.20265	T	0.27717894	0.50777	0.312032	0.57207	0.27717894	0.50777	0.312032	0.57206	-4.448	0.30203	T	.	.	0.264	0.49845	B	.	.	5.190366	0.87047	29.1	0.99817199672611812	0.90061	0.83185	0.42324	D	AEFDBI	0.362572	0.45178	N	0.344735110304885	0.58461	4.018591	0.254169995590898	0.52887	3.460581	0.915829665659614	0.26494	0.497415	0.19182	0	0.547309	0.14657	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	4.91	3.88	0.43959	2.673000	0.46524	6.136000	0.53985	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.629000	0.32131	0.1788:0.0:0.0:0.8212	8.152	0.30308	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1272.98	37	chr19	35227960	.	T	C	1272.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.372e+00;DP=1116;ExcessHet=0.0000;FS=3.719;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.60;ReadPosRankSum=-8.200e-01;SOR=0.424	GT:AD:DP:GQ:PL	0/0:80,0:80:99:0,120,1800	20	0	1	0
chr19	35311958	35311958	A	C	exonic	MAG	.	nonsynonymous SNV	MAG:NM_001199216:exon10:c.A1582C:p.N528H	Spastic paraplegia 75, autosomal recessive, Autosomal recessive	.	413	1108	1	0	0	1	0.00045106	.	.	694390	MAG-related_disorder|Hereditary_spastic_paraplegia_75	.|MONDO:MONDO:0014729,MedGen:C4225250,OMIM:616680,Orphanet:459056	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.989	D	0.854	P	0.000	D	0.997	N	0.55	N	-0.04	T	-0.956	T	0.129	T	0.145	3.818	19.39	3.01	0.825	1.888	6.383	0.114	.	0.0060	0.00658946	0.0018	0.0196	0.0008	0	0	0.0001	0	6.943e-05	0.0016106	249	154602	rs141352771	0.0006	0.0006	0.0007	0.0006	0.0197	0.0006	0.0006	0.0184	0.0179	0.0197	0.0012	0	0	0	0.0014	0.0001	0.0013	2.322e-05	0.0055	0.0055	0.0054	0.0056	0.0183	0.0052	0.0051	0.0172	0.0168	0.0183	0	0.0033	0	0	0	0.0136	0.0002	0.0057	0	0.032	0.53172	D	0.105	0.38596	T	0.976	0.58310	D	0.735	0.55480	P	0.000005	0.62929	D	0.102492	0.999151	0.22793	N	0.695	0.17993	N	-0.23	0.66652	T	-0.89	0.24026	N	0.235	0.27792	-0.9558	0.39952	T	0.129	0.43848	T	10	0.0047341585	0.00100	T	.	.	.	0.114	0.32008	.	.	0.521978482128	0.51842	0.43096501928647146	0.43013	0.4757096278	0.46736	0.539941728115	0.44437	T	0.202021	0.56007	T	-0.466105	0.00900	T	-0.427367	0.30235	T	0.0247687834559661	0.01243	T	0.789321	0.42944	T	0.0981459	0.23144	0.09610478	0.22821	0.1252315	0.29363	0.084922925	0.19571	-3.725	0.21089	T	0.2441827386043475	0.33075	0.096	0.15251	B	.;.;.	.;.;.	3.076207	0.41366	21.3	0.99605862540568801	0.74516	0.63800	0.32203	D	AEFDBI	0.237280	0.35959	N	0.101188604846489	0.46517	2.890956	0.138756027604618	0.46549	2.899127	0.999582367542353	0.40607	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.26	3.01	0.33872	1.499000	0.35279	7.836000	0.70319	0.754000	0.88378	0.998000	0.41325	1.000000	0.68203	0.918000	0.45347	0.7563:0.1577:0.086:0.0	6.383	0.20749	923	0.18507	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1546.98	38	chr19	35311958	.	A	C	1546.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.467e+00;DP=823;ExcessHet=0.0000;FS=5.777;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.34;ReadPosRankSum=-5.090e-01;SOR=0.531	GT:AD:DP:GQ:PL	0/1:51,65:116:99:1561,0,1258	20	0	1	0
chr19	35502862	35502862	G	A	exonic	DMKN	.	stopgain	DMKN:NM_001308383:exon5:c.C247T:p.R83X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.001	N	1.000	D	.	.	.	.	.	.	.	.	.	6.811	38	4.76	2.779	1.388	11.431	0.299	.	.	0.000399361	7.495e-05	9.909e-05	8.666e-05	0.0002	0	6.044e-05	0	6.095e-05	7.76e-05	12	154602	rs199854660	1.847e-05	1.847e-05	2.178e-05	1.513e-05	5.974e-05	1.265e-05	1.084e-05	2.194e-05	1.43e-05	5.974e-05	0	0	2.519e-05	0	0	1.709e-05	0	5.797e-05	1.971e-05	1.969e-05	1.286e-05	2.688e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.545e-05	0	0.0002	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.001272	0.39594	N	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.416	0.46368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213709	0.75178	D	0.294904	0.87958	D	0.568016794078599	0.35159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.;.;.;.;.;.;.;.;.;.	.;High;.;.;.;.;.;.;.;.;.;.	9.734012	0.99263	43	0.99649236990925139	0.77192	0.20758	0.21158	N	AEFDBCI	0.170772	0.29770	N	0.450130570971087	0.64211	4.670532	0.236160704530872	0.51866	3.365542	0.99232533345616	0.32799	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	5.85	4.76	0.60189	1.434000	0.34567	2.835000	0.35045	-0.171000	0.11205	0.241000	0.24758	0.999000	0.35428	0.351000	0.25682	0.0:0.0:0.8203:0.1797	11.431	0.49284	829	0.39537	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	637.98	34	chr19	35502862	.	G	A	637.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.45;DP=780;ExcessHet=0.0000;FS=1.003;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.63;ReadPosRankSum=0.255;SOR=0.632	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr19	35511468	35511492	ACCACTGCTGCCGCCACTGCTGCCG	0	exonic	DMKN	.	.	.	.	.	2	141	1	0	82	83	0.00353357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	1248.58	34	chr19	35511468	.	ACCACTGCTGCCGCCACTGCTGCCG	A,*	1248.58	.	AC=1,7;AF=0.024,0.167;AN=42;BaseQRankSum=0.761;DP=1237;ExcessHet=3.5521;FS=1.779;InbreedingCoeff=-0.2353;MLEAC=1,7;MLEAF=0.024,0.167;MQ=60.00;MQRankSum=0.00;QD=2.07;ReadPosRankSum=0.054;SOR=0.854	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:54,0,33:87:99:.:.:1234,1396,3642,0,2246,2128	13	0	1	0
chr19	35524924	35524924	C	T	exonic	SBSN	.	nonsynonymous SNV	SBSN:NM_001166034:exon2:c.G1639A:p.G547S	.	.	.	.	.	.	.	.	.	0.1711	0.318	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.288	B	0.194	B	0.760	N	0.960	N	0.695	N	0.74	T	-0.994	T	0.096	T	0.049	2.434	14.10	2.27	0.730	0.388	6.527	0.038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.25979	T	0.4	0.50226	T	.	.	.	.	.	.	0.760358	0.09628	N	0.826803	0.965365	0.26160	N	1.24	0.30952	L	0.46	0.56281	T	-1.44	0.58896	N	0.186	0.27077	-0.9940	0.31565	T	0.096	0.36159	T	10	0.073553264	0.20585	T	0.019792	0.42241	T	0.038	0.09825	0.242	0.17524	0.33110744837	0.32714	0.1164347023127874	0.11571	0.937130021803	0.72070	0.337835103273	0.16114	T	0.002643	0.02035	T	-0.253766	0.13640	T	-0.602294	0.12620	T	0.404786205253242	0.29122	T	0.263874	0.08817	T	0.04419761	0.07024	0.074388206	0.16269	0.04419761	0.07023	0.074388206	0.16268	-4.266	0.27697	T	.	.	0.080	0.09143	B	.;.;.	.;.;.	2.011149	0.25557	16.80	0.96922800183215319	0.31625	0.47963	0.28100	N	AEFDBI	0.155286	0.28045	N	-0.50433572600407	0.21939	1.167995	-0.422868580793852	0.24328	1.33157	0.275906982126667	0.18939	0.446893	0.09132	0	0.563428	0.19063	0	0.503968	0.08637	0	0.530356	0.10902	0	.	.	3.32	2.27	0.27501	0.536000	0.22838	-0.145000	0.11477	-0.262000	0.06890	0.965000	0.33920	0.000000	0.08366	0.304000	0.24594	0.0:0.8622:0.0:0.1378	6.527	0.21506	835	0.38313	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	690.98	32	chr19	35524924	.	C	T	690.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.32;DP=779;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.36;ReadPosRankSum=-1.102e+00;SOR=0.646	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr19	35527135	35527135	C	T	exonic	SBSN	.	nonsynonymous SNV	SBSN:NM_001166034:exon1:c.G1147A:p.A383T,	.	.	411	1109	2	0	0	2	0.000900901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.939	P	0.687	P	.	.	1.000	N	1.04	L	0.76	T	-1.013	T	0.135	T	0.21	1.367	10.50	1.95	1.979	-0.324	10.466	0.089	.	.	0.00299521	0.0044	0.0005	0	0.0027	0	0	0	0.0097	0.000608	94	154602	rs561422483	0.0005	0.0005	0.0003	0.0008	0.0088	0.0005	0.0005	0.0083	0.0081	3.167e-05	2.811e-05	0	0	0	0.0005	0	0.0005	0.0088	0.0002	0.0003	0.0002	0.0003	0.0073	0.0002	0.0002	0.0054	0.0048	0	0	0	0	0.0002	0	0	0	0	0.0073	0.089	0.32141	T	0.208	0.26883	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.12	0.08593	N	0.76	0.49919	T	-0.74	0.20791	N	0.048	0.01999	-1.0127	0.26070	T	0.135	0.44971	T	9	0.004301995	0.00087	T	.	.	.	0.089	0.25827	0.418	0.45873	0.531146924565	0.52762	0.005684572858177928	0.00538	0.851614069957	0.68559	0.226981937885	0.01752	T	0.00531	0.04761	T	-0.574297	0.00209	T	-0.591175	0.13563	T	0.0778758044329252	0.09712	T	0.518348	0.16810	T	0.029413184	0.02432	0.057489067	0.10459	0.029413184	0.02431	0.057489067	0.10458	-3.6	0.17857	T	.	.	0.078	0.06896	B	.	.	0.174503	0.05627	2.081	0.88813781023329608	0.18277	0.06083	0.12057	N	AEFDBI	0.042375	0.06568	N	-0.31027758455136	0.28758	1.588825	-0.456995581347013	0.23351	1.272934	0.00118753857532252	0.08314	0.516011	0.20929	0	0.610034	0.51514	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	4.4	1.95	0.25130	-0.618000	0.05674	-0.389000	0.09488	-0.277000	0.06564	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.6953:0.3047:0.0	10.466	0.43798	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3253.98	169	chr19	35527135	.	C	T	3253.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=2429;ExcessHet=0.0000;FS=1.550;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.50;ReadPosRankSum=0.162;SOR=0.800	GT:AD:DP:GQ:PL	0/0:195,0:195:99:0,120,1800	20	0	1	0
chr19	35527746	35527746	C	0	exonic	SBSN	.	.	.	.	.	427	1059	23	1	12	37	0.0116659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2598.15	211	chr19	35527746	.	C	G,*	2598.15	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-1.851e+00;DP=2067;ExcessHet=0.3300;FS=1.107;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=59.24;MQRankSum=3.51;QD=3.84;ReadPosRankSum=-2.316e+00;SOR=0.727	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:215,0,0:215:99:.:.:0,120,1800,120,1800,1800	18	0	1	0
chr19	35527867	35527867	G	A	exonic	SBSN	.	nonsynonymous SNV	SBSN:NM_001166034:exon1:c.C415T:p.H139Y,	.	.	424	1080	17	1	0	19	0.0087196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.956	P	0.732	P	.	.	1.000	D	0.895	L	0.91	T	-1.016	T	0.103	T	0.268	2.264	13.53	1.58	1.361	1.211	6.442	0.076	.	.	0.00199681	0.0009	0	8.637e-05	0	0	5.996e-05	0.0011	0.0063	0.0008021	124	154602	rs200153005	0.0005	0.0005	0.0002	0.0007	0.0067	0.0004	0.0004	0.0063	0.0061	0	0.0002	3.826e-05	0	0	0.0019	1.978e-05	0.0006	0.0067	0.0003	0.0003	0.0003	0.0004	0.0087	0.0003	0.0002	0.0066	0.0059	4.817e-05	0	0.0001	0.0003	0.0002	0	0	2.94e-05	0.0009	0.0087	0.049	0.39820	D	0.138	0.33780	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	1.525	0.38595	L	0.91	0.44856	T	-1.8	0.42384	N	0.422	0.46180	-1.0156	0.25143	T	0.103	0.37844	T	9	0.007532388	0.00171	T	.	.	.	0.076	0.22200	0.382	0.39970	0.447213685739	0.44343	0.030110697358850545	0.02960	0.998181422514	0.74318	0.46839851141	0.34460	T	0.003867	0.03272	T	-0.512556	0.00485	T	-0.50572	0.21757	T	0.0571665815178973	0.06715	T	0.455954	0.13062	T	0.0696542	0.15277	0.11283258	0.27227	0.0696542	0.15277	0.11283258	0.27226	-8.022	0.61220	D	.	.	0.271	0.50518	B	.	.	2.673778	0.34861	19.74	0.99308528184499745	0.58906	0.48877	0.28306	N	AEFDBI	0.134244	0.25418	N	-0.0800715292223179	0.38267	2.238635	-0.180054913390997	0.32270	1.83431	0.0274848590910693	0.13776	0.497415	0.19182	0	0.563428	0.19063	0	0.563428	0.18855	0	0.542086	0.14980	0	.	.	2.75	1.58	0.22557	0.743000	0.25899	2.109000	0.30648	0.658000	0.54486	0.112000	0.23030	0.325000	0.24344	0.398000	0.26737	0.0:0.0:0.5347:0.4653	6.442	0.21058	835	0.38313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3267.98	39	chr19	35527867	.	G	A	3267.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.800e-02;DP=1041;ExcessHet=0.0000;FS=0.964;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=0.553;SOR=0.746	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr19	35615272	35615272	G	A	exonic	HAUS5	.	nonsynonymous SNV	HAUS5:NM_015302:exon6:c.G371A:p.R124H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.013	B	0.004	B	0.136	N	1.000	N	1.355	L	1.47	T	-1.033	T	0.055	T	0.108	2.260	13.51	1.31	0.099	1.209	8.811	0.025	0.00551338936702	.	.	5.214e-05	0	0	0.0002	0	6.27e-05	0	0	3.88e-05	6	154602	rs766423063	2.258e-05	2.257e-05	2.859e-05	1.65e-05	7.557e-05	1.61e-05	1.417e-05	2.004e-05	1.15e-05	2.987e-05	0	0	7.557e-05	3.753e-05	0	2.068e-05	4.968e-05	1.16e-05	3.285e-05	3.283e-05	3.854e-05	2.689e-05	0.0002	1.261e-05	7.98e-06	1.171e-05	6.25e-06	2.412e-05	0	0	0	0	0	0	4.409e-05	0	0.0002	0.617	0.05357	T	0.121	0.35840	T	0.013	0.16609	B	0.004	0.10090	B	0.136159	0.18456	N	0.593826	1	0.08975	N	1.6	0.40776	L	1.47	0.31987	T	0.48	0.03041	N	0.262	0.29659	-1.0327	0.19586	T	0.055	0.23072	T	10	0.03557688	0.01812	T	0.005513	0.14197	T	0.025	0.05312	0.341	0.33302	0.221734844693	0.21761	0.4733317307521494	0.47252	0.264401177313	0.28988	0.27648037672	0.07007	T	0.00468	0.04092	T	-0.416049	0.01813	T	-0.6097	0.12010	T	0.0655163031390108	0.08007	T	0.761624	0.38671	T	0.019150298	0.00441	0.024246376	0.00441	0.019150298	0.00441	0.024246376	0.00441	-4.219	0.27026	T	.	.	0.075	0.05711	B	.	.	2.176805	0.27743	17.57	0.96535929960015787	0.30168	0.30683	0.24145	N	AEFBI	0.090739	0.18385	N	-0.545435280842682	0.20627	1.088763	-0.478862891432013	0.22737	1.236436	0.00309560428675037	0.09922	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.84	1.31	0.20837	1.178000	0.31590	0.188000	0.15711	0.671000	0.69459	0.783000	0.29509	0.000000	0.08366	0.953000	0.50222	0.2705:0.0:0.7295:0.0	8.811	0.34124	856	0.34373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1344.98	39	chr19	35615272	.	G	A	1344.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=939;ExcessHet=0.0000;FS=4.221;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.04;ReadPosRankSum=-1.022e+00;SOR=1.054	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,108,1620	20	0	1	0
chr19	35617335	35617335	C	T	exonic	HAUS5	.	nonsynonymous SNV	HAUS5:NM_015302:exon8:c.C604T:p.L202F,	.	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.295	M	1.02	T	-0.556	T	0.261	T	0.321	4.552	24.6	5.41	2.826	3.522	14.577	0.180	0.0236628581383	.	0.000199681	0.0003	0	0.0002	0.0002	0	0.0003	0.0022	0.0008	0.0002846	44	154602	rs201575634	0.0003	0.0003	0.0002	0.0003	0.0035	0.0003	0.0003	0.0023	0.0019	5.975e-05	0.0001	0.0005	7.557e-05	0	0.0035	0.0003	0.0005	0.0008	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	0.0001	4.811e-05	0	0.0002	0.0003	0	0	0	0.0003	0.0005	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.62929	D	0.000000	0.999268	0.46490	D	2.625	0.76847	M	1.02	0.40749	T	-2.62	0.56301	D	0.448	0.48596	-0.5561	0.66553	T	0.261	0.63165	T	10	0.09344855	0.16539	T	0.023663	0.46630	T	0.180	0.45073	0.311	0.28451	0.514240282655	0.51065	0.6186918299454615	0.61802	0.840591708214	0.68044	0.432114869356	0.29497	T	0.097103	0.39959	T	-0.341146	0.05308	T	-0.331631	0.41287	T	0.132828846059341	0.15641	T	0.769823	0.39947	T	0.6885942	0.77436	0.6656507	0.80395	0.6885942	0.77437	0.6656507	0.80396	-5.567	0.42490	T	.	.	0.242	0.47676	B	.	.	4.676497	0.74799	26.2	0.99903658541256501	0.97502	0.88488	0.48439	D	AEFGBI	0.311877	0.41748	N	0.734223790492844	0.81876	7.625878	0.70344967124647	0.82640	7.817486	0.995617425284253	0.34224	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.41	5.41	0.78313	3.661000	0.54241	5.889000	0.50737	0.591000	0.32079	0.763000	0.29277	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	14.577	0.67849	856	0.34373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1271.08	37	chr19	35617335	.	C	T	1271.08	.	AC=2;AF=0.048;AN=42;DP=743;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.45;SOR=1.493	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1284	20	1	0	0
chr19	35620266	35620266	C	A	exonic	HAUS5	.	nonsynonymous SNV	HAUS5:NM_015302:exon17:c.C1590A:p.S530R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.739	P	0.474	P	0.489	N	1.000	N	1.525	L	1.43	T	-1.065	T	0.040	T	0.072	2.504	14.33	0.651	0.006	-0.007	8.306	0.055	.	0.0053	0.00479233	0.0011	0.0143	0.0004	0	0	0	0	0	0.0010867	168	154602	rs61738561	0.0004	0.0004	0.0005	0.0003	0.0162	0.0004	0.0004	0.0151	0.0147	0.0162	0.0004	0	0	0	0.0003	3.597e-06	0.0006	2.319e-05	0.0040	0.0040	0.0041	0.0039	0.0144	0.0038	0.0036	0.0134	0.0131	0.0144	0	0.0005	0	0	0	0	0	0.0024	0	0.033	0.44358	D	0.034	0.54159	D	0.739	0.42933	P	0.474	0.46883	P	0.489077	0.12078	N	0.791326	1	0.08975	N	2.39	0.68882	M	1.43	0.32958	T	-1.48	0.36189	N	0.227	0.25499	-1.0648	0.10596	T	0.040	0.17404	T	10	0.0050446987	0.00109	T	.	.	.	0.055	0.15663	0.173	0.07894	0.280181792013	0.27631	0.49914159633776417	0.49835	0.237544240872	0.26293	0.355619668961	0.18747	T	0.016502	0.29172	T	-0.621046	0.00108	T	-0.651241	0.08867	T	0.0116045668500558	0.00176	T	0.684832	0.29327	T	0.092388324	0.21674	0.09454438	0.22384	0.092388324	0.21674	0.09454438	0.22383	-3.038	0.10596	T	.	.	0.207	0.56311	B	.;.	.;.	0.783431	0.11534	8.133	0.9869126562747379	0.44766	0.02242	0.06502	N	AEFBI	0.053275	0.09586	N	-0.685771385711583	0.16426	0.8368148	-0.839181560973813	0.13548	0.7034105	0.00248675936295236	0.09470	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.05	0.651	0.16989	0.039000	0.13770	-0.112000	0.11818	-0.186000	0.09761	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.5132:0.0:0.4868	8.306	0.31205	856	0.34373	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	387.98	34	chr19	35620266	.	C	A	387.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.032e+00;DP=723;ExcessHet=0.0000;FS=1.475;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=0.416;SOR=1.270	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1140	20	0	1	0
chr19	35668631	35668631	C	T	exonic	UPK1A	.	nonsynonymous SNV	UPK1A:NM_001281443:exon3:c.C262T:p.R88C	.	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.0	B	0.001	B	0.042	N	0.930	D	0.69	N	-1.53	D	-0.828	T	0.160	T	0.128	0.219	5.180	2.05	0.081	0.081	8.021	0.261	.	0.0053	0.00479233	0.0013	0.0144	0.0003	0	0	1.66e-05	0	0	0.0010802	167	154602	rs61730228	0.0004	0.0004	0.0005	0.0003	0.0145	0.0004	0.0003	0.0134	0.0130	0.0145	0.0004	3.83e-05	0.0003	0	0.0003	1.169e-05	0.0005	3.48e-05	0.0037	0.0037	0.0037	0.0036	0.0131	0.0034	0.0033	0.0122	0.0118	0.0131	0	0.0005	0	0	0	0	1.471e-05	0.0019	0	0.077	0.34095	T	0.147	0.37449	T	0.0	0.02946	B	0.001	0.04355	B	0.041979	0.23891	N	0.386427	0.930001	0.36944	D	0	0.06538	N	-1.53	0.81559	D	-2.18	0.51646	N	0.213	0.28732	-0.8283	0.53410	T	0.160	0.49497	T	10	0.006706208	0.00152	T	.	.	.	0.261	0.57352	.	.	0.115124310173	0.11017	0.6234123753070699	0.62274	0.263295551271	0.28884	0.306515365839	0.11381	T	0.159047	0.50233	T	-0.491148	0.00640	T	-0.465952	0.25954	T	0.00377497056835229	0.00040	T	0.59724	0.24237	T	0.10587895	0.25035	0.08511069	0.19628	0.10587895	0.25034	0.08511069	0.19627	-5.973	0.47117	T	.	.	0.165	0.36455	B	.;.;.;.	.;.;.;.	1.328249	0.17329	13.10	0.84958508858903459	0.15600	0.71141	0.34886	D	AEFDBI	0.192690	0.31984	N	-1.12856828219773	0.06140	0.281834	-0.998751803439232	0.09813	0.4904237	0.00105173866389787	0.08170	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.33	2.05	0.25860	0.094000	0.14946	0.115000	0.14837	-0.828000	0.02899	0.317000	0.25476	0.001000	0.17328	0.026000	0.12556	0.0:0.6813:0.1192:0.1995	8.021	0.29571	894	0.26265	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1056.98	33	chr19	35668631	.	C	T	1056.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.988;DP=792;ExcessHet=0.0000;FS=3.305;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=0.175;SOR=0.383	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1269	20	0	1	0
chr19	35722408	35722408	T	A	exonic	KMT2B	.	nonsynonymous SNV	KMT2B:NM_014727:exon4:c.T2507A:p.I836N,	Dystonia 28, childhood-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.09	B	0.015	B	0.715	N	1.000	N	0	N	-1.63	D	-0.815	T	0.259	T	0.204	-0.638	1.180	2.23	0.505	1.077	4.537	0.205	0.0672672982579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.056e-06	2.052e-06	2.728e-06	1.378e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.059	0.45961	T	0.09	0.25173	B	0.015	0.17295	B	0.715301	0.09980	N	0.824724	1	0.08975	N	0	0.06538	N	-1.63	0.82440	D	0.18	0.05035	N	0.464	0.50056	-0.8154	0.54220	T	0.259	0.62988	T	10	0.08903572	0.15385	T	0.067267	0.70115	D	0.205	0.49236	0.132	0.03662	0.147330786459	0.14319	0.11741152310037324	0.11669	.	.	0.354771912098	0.18622	T	0.024815	0.18678	T	-0.0657153	0.42010	T	-0.332172	0.41227	T	0.0769306211025872	0.09590	T	0.756624	0.37993	T	0.058518846	0.11782	0.08585894	0.19853	0.058518846	0.11782	0.08585894	0.19853	-3.141	0.11773	T	0.11808889263014592	0.10858	0.085	0.10256	B	.	.	1.827642	0.23222	15.93	0.54248443807953017	0.05100	0.49901	0.28539	N	AEFBCI	0.063604	0.12302	N	-0.605005084165226	0.18792	0.9785469	-0.497509622549038	0.22223	1.205966	1.61291902508311E-4	0.05721	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.92	2.23	0.27189	1.270000	0.32689	1.264000	0.25249	0.665000	0.62972	0.820000	0.29989	0.970000	0.29701	0.879000	0.42020	0.0:0.24:0.1823:0.5777	4.537	0.11438	723	0.55174	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	559.98	40	chr19	35722408	.	T	A	559.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.86;DP=808;ExcessHet=0.0000;FS=3.923;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.23;ReadPosRankSum=-8.370e-01;SOR=1.310	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1155	20	0	1	0
chr19	35739336	35739336	C	T	exonic	IGFLR1	.	nonsynonymous SNV	IGFLR1:NM_001346004:exon3:c.G448A:p.A150T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.046	B	0.034	B	0.428	N	0.998	N	-0.345	N	2.02	T	-0.948	T	0.019	T	0.067	1.981	12.58	0.949	0.035	0.367	6.12	0.020	0.00543636748524	.	.	1.184e-05	0.0002	0	0	0	0	0	0	6.5e-06	1	154602	rs766995822	6.861e-06	7.524e-06	6.822e-06	6.9e-06	0.0002	3.47e-06	2.53e-06	0.0001	8.688e-05	0.0002	0	0	0	0	0.0002	0	1.66e-05	0	2.625e-05	2.624e-05	2.569e-05	2.684e-05	7.214e-05	8.13e-06	5.14e-06	1.913e-05	1.03e-05	7.214e-05	0	0	0	0	0	0	1.47e-05	0	0	0.543	0.06735	T	0.283	0.21678	T	0.046	0.21875	B	0.034	0.22546	B	0.427875	0.12786	N	0.717736	0.998984	0.22287	N	1.385	0.34509	L	2.02	0.21119	T	-0.54	0.16598	N	0.039	0.03175	-0.9475	0.41397	T	0.019	0.07846	T	10	0.043736815	0.03256	T	0.005436	0.13954	T	0.020	0.03691	0.157	0.06070	0.0986583533028	0.09354	0.26493977527269197	0.26406	0.125001582203	0.14086	0.362936407328	0.19813	T	0.004893	0.04311	T	-0.323742	0.06596	T	-0.702809	0.05673	T	0.0812724167664966	0.10149	T	0.60194	0.22547	T	0.029783392	0.02529	0.04217829	0.04962	0.029783392	0.02529	0.04217829	0.04962	-3.089	0.19525	T	.	.	0.103	0.18622	B	.;.;.;.	.;.;.;.	1.793590	0.22800	15.77	0.95986328973607848	0.28374	0.19025	0.20498	N	AEFDBHCI	0.142250	0.26464	N	-0.872033444862261	0.11512	0.5559011	-0.739706740490164	0.15975	0.842889	0.999998985907176	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.26897	0.05253	2	0.636168	0.56350	0	.	.	4.69	0.949	0.18691	0.400000	0.20657	0.961000	0.22991	0.599000	0.40250	0.129000	0.23328	0.012000	0.20211	0.862000	0.40904	0.0:0.5891:0.0:0.4109	6.12	0.19367	698	0.58074	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	891.98	38	chr19	35739336	.	C	T	891.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.535e+00;DP=838;ExcessHet=0.0000;FS=1.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.87;ReadPosRankSum=-1.320e+00;SOR=0.910	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr19	35739776	35739776	A	G	exonic	IGFLR1	.	nonsynonymous SNV	IGFLR1:NM_024660:exon4:c.T655C:p.S219P,	.	.	419	1084	18	1	0	20	0.00914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.009	B	0.01	B	0.353	N	1.000	N	0.805	L	-3.0	D	-0.613	T	0.426	T	0.137	2.323	13.72	1.65	-0.014	0.029	3.125	0.099	.	0.0015	0.00359425	0.0023	0.0003	0.0015	0	0	0.0027	0.0013	0.0070	0.0024903	385	154602	rs140499475	0.0021	0.0022	0.0020	0.0023	0.0061	0.0021	0.0021	0.0049	0.0047	0.0001	0.0017	0.0168	0	0.0002	0.0061	0.0018	0.0028	0.0053	0.0020	0.0020	0.0019	0.0022	0.0054	0.0019	0.0018	0.0038	0.0032	0.0003	0.0099	0.0014	0.0153	0	0.0002	0.0034	0.0025	0.0076	0.0054	0.254	0.16903	T	0.246	0.23984	T	0.009	0.15093	B	0.01	0.14941	B	0.352819	0.13789	N	0.686711	1	0.08975	N	1.935	0.51832	L	-3.0	0.92158	D	-0.71	0.20145	N	0.148	0.19593	-0.6129	0.64283	T	0.426	0.76982	T	10	0.0039683282	0.00076	T	.	.	.	0.099	0.28413	.	.	0.295974979623	0.29207	0.27758362302310946	0.27671	0.11156610011	0.12596	0.249404877424	0.03705	T	0.023495	0.17926	T	-0.375781	0.03311	T	-0.310641	0.43590	T	0.00325920142782772	0.00034	T	0.351965	0.07883	T	0.1664602	0.36982	0.08084068	0.18322	0.1664602	0.36981	0.08084068	0.18321	-3.316	0.13945	T	.	.	0.087	0.11269	B	.;.	.;.	1.119375	0.15051	11.55	0.97273360374898588	0.33149	0.17081	0.19681	N	AEFDGBHCI	.	.	.	-1.17014427534986	0.05456	0.2487935	-1.17016438969734	0.06413	0.3086329	0.999999800345108	0.74766	0.72623	0.87236	0	0.685571	0.66316	0	0.594344	0.31042	0	0.604282	0.37693	0	.	.	5.08	1.65	0.23015	0.022000	0.13402	1.975000	0.30006	-0.208000	0.08445	0.007000	0.17678	0.945000	0.28875	0.027000	0.12703	0.593:0.0:0.1913:0.2157	3.125	0.06020	698	0.58074	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1886.98	38	chr19	35739776	.	A	G	1886.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.148e+00;DP=914;ExcessHet=0.0000;FS=3.027;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.58;ReadPosRankSum=-4.010e-01;SOR=0.629	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr19	35741056	35741056	C	T	exonic	IGFLR1	.	nonsynonymous SNV	IGFLR1:NM_001346003:exon2:c.G125A:p.C42Y	.	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	0.998	N	1.955	M	-2.95	D	0.442	D	0.832	D	0.968	4.228	22.0	4.78	2.483	3.620	13.174	0.787	0.223617506901	.	.	9.126e-06	0	0	0	0	0	0	6.939e-05	6.5e-06	1	154602	rs780108167	3.159e-05	3.215e-05	2.595e-05	3.73e-05	0.0004	2.422e-05	2.166e-05	0.0002	0.0001	0	6.832e-05	0	0	0	0.0004	1.533e-05	6.661e-05	0.0002	5.25e-05	5.248e-05	2.569e-05	8.051e-05	0.0010	2.554e-05	1.828e-05	0.0004	0.0003	0	0	6.531e-05	0	0	0	0	2.939e-05	0	0.0010	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.997978	0.44375	D	1.975	0.53506	M	-2.95	0.91903	D	-8.85	0.97861	D	0.725	0.72656	0.442	0.89711	D	0.832	0.94366	D	10	0.76145977	0.76377	D	0.223618	0.87910	D	0.787	0.92948	0.56	0.67958	0.783291907213	0.78129	0.8906648443364954	0.89036	0.602772774476	0.55276	0.545365393162	0.45203	T	0.176681	0.52672	T	0.262537	0.79763	D	0.376009	0.91286	D	0.710443921370136	0.41222	D	0.814719	0.46890	T	0.9382158	0.95065	0.96486956	0.99224	0.9382158	0.95066	0.96486956	0.99225	-8.354	0.63458	D	.	.	0.973	0.90447	P	.;.;.;.;.	.;.;.;.;.	4.467890	0.69602	25.4	0.99493618454664201	0.67573	0.77649	0.38203	D	ALL	0.844377	0.76135	D	0.620752543839449	0.74488	6.141353	0.574040778857379	0.73083	5.91303	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.166054	0.03999	2	0.56214	0.19341	0	.	.	4.78	4.78	0.60666	1.333000	0.33421	3.743000	0.39657	0.595000	0.32841	0.764000	0.29288	1.000000	0.68203	0.909000	0.44452	0.0:1.0:0.0:0.0	13.174	0.59035	698	0.58074	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1254.98	33	chr19	35741056	.	C	T	1254.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.130e-01;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.79;ReadPosRankSum=-1.227e+00;SOR=0.695	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1231	20	0	1	0
chr19	35786677	35786677	G	A	exonic	ARHGAP33	.	nonsynonymous SNV	ARHGAP33:NM_001172630:exon19:c.G1799A:p.R600Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.999	D	0.905	P	0.073	N	1.000	N	0.69	N	3.14	T	-1.101	T	0.030	T	0.451	3.944	20.2	4.71	2.439	2.748	11.759	0.105	0.0183049862434	.	.	.	.	.	.	.	.	.	.	.	.	.	rs550325493	3.397e-05	3.215e-05	3.139e-05	3.662e-05	0.0004	2.618e-05	2.346e-05	6.272e-05	2.669e-05	0	0	0	0	0	0.0004	3.986e-05	3.455e-05	0	3.949e-05	3.942e-05	7.716e-05	0	5.887e-05	1.718e-05	1.131e-05	1.974e-05	1.125e-05	2.418e-05	0	0	0	0	0	0	5.887e-05	0.0005	0	0.01	0.56456	D	0.291	0.20944	T	0.999	0.77913	D	0.905	0.64260	P	0.073151	0.21364	N	0.412203	1	0.81001	D	.	.	.	3.14	0.07920	T	-0.83	0.22727	N	0.328	0.36884	-1.1007	0.04008	T	0.030	0.12848	T	10	0.28410596	0.45992	T	0.018305	0.40331	T	0.105	0.29889	.	.	0.415438038341	0.41156	.	.	.	.	.	.	.	.	.	.	-0.267483	0.12039	T	-0.430966	0.29825	T	0.151663184165955	0.17235	T	0.832517	0.50110	T	.	.	.	.	.	.	.	.	-4.903	0.35769	T	.	.	0.173	0.37876	B	.	.	4.994044	0.82817	27.9	0.99940485320807071	0.99767	0.91063	0.52787	D	AEFDBHCI	0.431952	0.49403	N	0.334844944467378	0.57946	3.964088	0.373774434054104	0.59951	4.177747	0.83573139068711	0.24775	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.71	4.71	0.59010	1.638000	0.36780	8.570000	0.77602	0.676000	0.76740	0.955000	0.33325	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.8236:0.1764	11.759	0.51163	734	0.53889	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2091.08	35	chr19	35786677	.	G	A	2091.08	.	AC=2;AF=0.048;AN=42;DP=768;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.73;SOR=1.143	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1161	20	1	0	0
chr19	35787444	35787444	G	C	exonic	ARHGAP33	.	nonsynonymous SNV	ARHGAP33:NM_001172630:exon20:c.G2471C:p.G824A	.	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.004	B	0.006	B	0.095	N	1.000	N	0.55	N	3.24	T	-0.962	T	0.005	T	0.119	-0.318	2.488	1.72	0.517	0.863	5.339	0.013	.	.	0.00579073	0.0022	0	9.151e-05	0.0292	0	5.002e-05	0	0.0001	0.0018434	285	154602	rs78210368	0.0009	0.0009	0.0010	0.0009	0.0321	0.0009	0.0009	0.0307	0.0301	0	2.243e-05	0	0.0321	0	0.0002	8.098e-06	0.0007	0.0002	0.0009	0.0009	0.0008	0.0010	0.0261	0.0008	0.0007	0.0225	0.0212	0	0	0	0	0.0261	0	0	2.944e-05	0	0.0006	0.006	0.61437	D	0.793	0.04155	T	0.003	0.11197	B	0.006	0.12133	B	0.095311	0.20130	N	0.420286	1	0.08975	N	.	.	.	3.24	0.11298	T	-0.47	0.15178	N	0.193	0.24510	-0.9622	0.38761	T	0.005	0.01833	T	10	0.00358513	0.00065	T	.	.	.	0.013	0.01715	.	.	0.0716867268079	0.06686	0.20242639843409016	0.20159	0.282364650884	0.30698	0.510391414165	0.40278	T	.	.	.	-0.672211	0.00053	T	-0.717411	0.04922	T	0.00645812537136067	0.00072	T	0.791921	0.43319	T	.	.	.	.	.	.	.	.	-3.866	0.21794	T	.	.	0.078	0.06896	B	.;.	.;.	1.124924	0.15109	11.60	0.90623164925966315	0.19876	0.12745	0.17454	N	AEFDBI	0.100505	0.20207	N	-0.955956129893583	0.09559	0.4529669	-0.946650778815864	0.11000	0.5577539	0.0427636686848781	0.14540	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	5.07	1.72	0.23498	-1.456000	0.02483	4.996000	0.46562	-0.113000	0.14837	0.000000	0.06391	0.999000	0.35428	0.014000	0.10232	0.2436:0.1576:0.5987:0.0	5.339	0.15278	744	0.52588	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2303.08	35	chr19	35787444	.	G	C	2303.08	.	AC=2;AF=0.048;AN=42;DP=799;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.12;SOR=0.927	GT:AD:DP:GQ:PL	0/0:32,0:32:81:0,81,1215	20	1	0	0
chr19	35800100	35800100	C	T	exonic	PRODH2	.	nonsynonymous SNV	PRODH2:NM_001378292:exon9:c.G1165A:p.E389K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.83	T	0.001	B	0.004	B	.	.	1.000	D	1.1	L	1.42	T	-1.066	T	0.044	T	0.108	2.454	14.17	1.79	0.306	0.452	8.018	0.057	0.00368102551178	7.7e-05	.	8.577e-05	0	0	0	0	3.913e-05	0.0015	0.0004	5.17e-05	8	154602	rs142659188	3.289e-05	3.283e-05	1.908e-05	4.685e-05	0.0004	2.547e-05	2.253e-05	0.0003	0.0002	2.99e-05	0	0	0	0	0	1.26e-05	1.659e-05	0.0004	3.285e-05	3.283e-05	5.137e-05	1.345e-05	4.41e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	2.412e-05	0	0	0	0	0	0	4.41e-05	0.0005	0	0.289	0.15047	T	0.323	0.18959	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.81001	D	.	.	.	1.42	0.33189	T	-1.06	0.27669	N	0.126	0.11912	-1.0662	0.10269	T	0.044	0.19070	T	9	0.061967105	0.07850	T	0.003681	0.08496	T	0.057	0.16321	.	.	0.112648838833	0.10856	0.2291621732928799	0.22831	0.156148598742	0.17626	0.343678891659	0.16987	T	0.00419	0.03601	T	-0.504859	0.00537	T	-0.66125	0.08182	T	0.0429128305634155	0.04221	T	0.457954	0.13172	T	0.043882564	0.06918	0.067599505	0.14007	0.043882564	0.06917	0.067599505	0.14007	-4.182	0.26490	T	.	.	0.076	0.06159	B	.	.	1.021136	0.14010	10.57	0.9918703175062773	0.54848	0.22640	0.21814	N	AEFCI	0.204947	0.33134	N	-0.859604591220588	0.11815	0.5722509	-0.813880117842587	0.14160	0.7384194	1.30093334602491E-4	0.05386	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.12	1.79	0.23992	0.423000	0.21032	-0.113000	0.11807	-0.190000	0.09434	0.000000	0.06391	0.000000	0.08366	0.796000	0.37562	0.0:0.7196:0.0:0.2804	8.018	0.29556	734	0.53889	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1313.98	33	chr19	35800100	.	C	T	1313.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=-2.130e-01;SOR=0.678	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1237	20	0	1	0
chr19	35806769	35806769	G	A	exonic	PRODH2	.	nonsynonymous SNV	PRODH2:NM_001378293:exon6:c.C740T:p.A247V	.	.	411	1086	25	0	0	25	0.0113792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.886	P	.	.	1.000	D	2.87	M	1.28	T	-0.562	T	0.185	T	0.767	4.512	24.3	4.94	2.574	7.733	15.710	0.433	0.0848196410209	0.0018	0.00199681	0.0018	0.0003	0.0014	0.0003	0	0.0023	0	0.0028	0.0014942	231	154602	rs148996461	0.0013	0.0013	0.0012	0.0013	0.0182	0.0012	0.0012	0.0153	0.0143	0.0003	0.0016	0.0149	0.0001	9.379e-05	0.0182	0.0008	0.0023	0.0028	0.0015	0.0015	0.0016	0.0015	0.0048	0.0014	0.0013	0.0040	0.0036	0.0003	0	0.0048	0.0150	0	0	0.0170	0.0010	0.0047	0.0035	0.001	0.78490	D	0.002	0.79402	D	0.998	0.73220	D	0.886	0.62898	P	.	.	.	.	0.999999	0.58761	D	.	.	.	1.28	0.35960	T	-3.41	0.67129	D	0.527	0.55626	-0.5622	0.66320	T	0.185	0.53361	T	9	0.024158657	0.00655	T	0.08482	0.74405	D	0.433	0.73879	.	.	0.495038369364	0.49138	0.917729499040338	0.91747	0.592755175315	0.54650	0.541399598122	0.44643	T	0.629359	0.88493	D	-0.228277	0.16878	T	-0.104672	0.63032	T	0.0630171359686066	0.07634	T	0.80292	0.44963	T	0.27929047	0.50980	0.3533046	0.60894	0.27929047	0.50979	0.3533046	0.60894	-7.737	0.59264	D	.	.	0.150	0.33179	B	.	.	4.528629	0.71068	25.6	0.99937806449776112	0.99698	0.96758	0.70782	D	AEFDBI	0.928981	0.91404	D	0.694588966654963	0.79276	7.044066	0.587258987438839	0.74024	6.06752	0.999999205579871	0.74766	0.55562	0.30534	0	0.59043	0.45803	0	0.68496	0.61776	0	0.613276	0.41899	0	.	.	4.94	4.94	0.64645	6.769000	0.74780	9.703000	0.81309	-0.167000	0.11441	1.000000	0.71638	1.000000	0.68203	0.027000	0.12703	0.0:0.0:1.0:0.0	15.710	0.77376	747	0.52260	Proline dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	905.98	26	chr19	35806769	.	G	A	905.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.850e-01;DP=740;ExcessHet=0.0000;FS=3.723;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.36;ReadPosRankSum=0.776;SOR=0.346	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1292	20	0	1	0
chr19	35811969	35811969	G	C	exonic	PRODH2	.	nonsynonymous SNV	PRODH2:NM_001378292:exon4:c.C590G:p.S197C	.	.	.	.	.	.	.	.	.	.	.	3199540	PRODH2-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.04	D	0.998	D	0.886	P	.	.	1.000	D	1.67	L	3.27	T	-1.218	T	0.023	T	0.224	3.014	16.05	3.61	2.630	3.192	9.643	0.118	.	0.0072	0.00838658	0.0015	0.0176	0.0003	0	0	0	0	0	0.0015653	242	154602	rs116583133	0.0005	0.0005	0.0006	0.0003	0.0174	0.0004	0.0004	0.0162	0.0157	0.0174	0.0003	0	0	0	0.0005	1.799e-06	0.0009	2.319e-05	0.0048	0.0048	0.0050	0.0047	0.0172	0.0045	0.0044	0.0162	0.0157	0.0172	0	0.0011	0	0	0	0	1.47e-05	0.0014	0	0.004	0.65419	D	0.042	0.50226	D	0.998	0.73220	D	0.886	0.62898	P	.	.	.	.	0.979703	0.25163	N	.	.	.	3.27	0.06602	T	-1.3	0.32590	N	0.5	0.53269	-1.2184	0.00057	T	0.023	0.09604	T	9	0.008913547	0.00202	T	.	.	.	0.118	0.32913	.	.	0.425499470309	0.42167	0.5499884557418094	0.54924	0.582682893646	0.54016	0.455933719873	0.32754	T	0.412053	0.76633	T	-0.552161	0.00283	T	-0.551638	0.17169	T	0.0372037032197249	0.03191	T	0.725127	0.33902	T	0.14249834	0.32791	0.18030305	0.40820	0.14249834	0.32791	0.18030305	0.40820	-6.068	0.46844	T	.	.	0.103	0.18414	B	.	.	4.671318	0.74661	26.2	0.99257768157039716	0.57088	0.89435	0.49898	D	AEFDBHCI	0.491045	0.52827	N	0.508328379012074	0.67579	5.100749	0.469122082300428	0.65954	4.889493	0.999999497857787	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.73	3.61	0.40494	3.470000	0.52864	5.412000	0.48541	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0:0.0:0.7923:0.2077	9.643	0.39017	799	0.44747	Proline dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1102.98	34	chr19	35811969	.	G	C	1102.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.300e-02;DP=780;ExcessHet=0.0000;FS=0.927;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.32;ReadPosRankSum=-1.174e+00;SOR=0.874	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1106	20	0	1	0
chr19	35826642	35826642	G	A	exonic	NPHS1	.	nonsynonymous SNV	NPHS1:NM_004646:exon29:c.C3598T:p.P1200S,	Nephrotic syndrome, type 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	728133	not_provided|Congenital_nephrotic_syndrome|Focal_segmental_glomerulosclerosis|Finnish_congenital_nephrotic_syndrome	MedGen:C3661900|Human_Phenotype_Ontology:HP:0008677,MONDO:MONDO:0002350,MeSH:C535761,MedGen:C3501848,OMIM:PS256300|Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668|MONDO:MONDO:0009732,MedGen:C0403399,OMIM:256300,Orphanet:839	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.36	T	0.0	B	0.001	B	0.028	N	1.000	N	0.805	L	-0.71	T	-1.089	T	0.078	T	0.054	0.726	7.859	0.17	0.647	-0.190	2.934	0.150	.	0.0055	0.00698882	0.0012	0.0140	0.0002	0	0	0	0	0	0.0012548	194	154602	rs35240811	0.0004	0.0004	0.0004	0.0003	0.0138	0.0003	0.0003	0.0128	0.0124	0.0138	0.0002	0	0	0	0.0007	8.993e-07	0.0007	1.159e-05	0.0038	0.0038	0.0039	0.0037	0.0135	0.0035	0.0034	0.0126	0.0122	0.0135	0	0.0007	0	0	0	0	0	0.0014	0	0.261	0.16520	T	0.505	0.16231	T	0.0	0.02946	B	0.001	0.04355	B	0.027729	0.25711	N	0.345212	1	0.08975	N	0.66	0.16226	N	-0.71	0.73100	T	-1.62	0.38924	N	0.056	0.05799	-1.0889	0.05718	T	0.078	0.31012	T	10	0.005597234	0.00124	T	.	.	.	0.150	0.39571	.	.	0.565168447923	0.56179	0.15320658675188475	0.15242	0.104148278911	0.11784	0.297765463591	0.10069	T	0.335635	0.70524	T	-0.583428	0.00184	T	-0.598506	0.12937	T	0.00745169142150566	0.00086	T	0.652235	0.26282	T	0.034223955	0.03798	0.050397374	0.07900	0.029290339	0.02400	0.055357948	0.09693	-4.305	0.28246	T	.	.	0.070	0.16886	B	.;.	.;.	-0.168522	0.03255	0.552	0.4141437293765306	0.02986	0.04172	0.09668	N	AEFBHCI	0.052487	0.09374	N	-1.12707690806314	0.06166	0.2830893	-1.14266666435326	0.06900	0.3337506	1.16323341225613E-5	0.02871	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.83	0.17	0.14307	-0.043000	0.11996	0.462000	0.18628	-0.113000	0.14837	0.000000	0.06391	0.016000	0.20520	0.001000	0.02609	0.3293:0.0:0.4743:0.1964	2.934	0.05452	835	0.38313	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1460.98	34	chr19	35826642	.	G	A	1460.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.97;DP=827;ExcessHet=0.0000;FS=4.386;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=0.477;SOR=0.724	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1367	20	0	1	0
chr19	35845476	35845476	C	T	exonic	NPHS1	.	nonsynonymous SNV	NPHS1:NM_004646:exon14:c.G1822A:p.V608I,	Nephrotic syndrome, type 1, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	549351	Finnish_congenital_nephrotic_syndrome|Congenital_nephrotic_syndrome|Focal_segmental_glomerulosclerosis|not_specified|not_provided	MONDO:MONDO:0009732,MedGen:C0403399,OMIM:256300,Orphanet:839|Human_Phenotype_Ontology:HP:0008677,MONDO:MONDO:0002350,MeSH:C535761,MedGen:C3501848,OMIM:PS256300|Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.7	T	0.021	B	0.008	B	0.001	N	0.976	N	1.5	L	-2.09	D	-0.773	T	0.419	T	0.061	1.351	10.44	1.15	0.233	0.206	7.767	0.152	0.14240506107	0.0002	0.000399361	0.0008	0.0001	8.876e-05	0	0	9.332e-05	0.0012	0.0050	0.0006015	93	154602	rs367976914	0.0003	0.0003	0.0001	0.0004	0.0046	0.0003	0.0003	0.0042	0.0041	0	2.237e-05	0	2.519e-05	0	0	2.698e-06	0.0004	0.0046	0.0002	0.0002	0.0002	0.0002	0.0048	0.0001	0.0001	0.0033	0.0028	0	0	0	0	0	0	0	8.82e-05	0	0.0048	0.155	0.30375	T	0.042	0.50809	D	0.021	0.18474	B	0.008	0.13708	B	0.001297	0.39521	N	0.215178	0.975791	0.25413	N	1.395	0.35261	L	-2.09	0.86077	D	0.34	0.03824	N	0.084	0.10340	-0.7732	0.56681	T	0.419	0.76510	T	10	0.009359419	0.00211	T	0.142405	0.82478	D	0.152	0.39956	.	.	0.774140406758	0.77206	0.3686244551593497	0.36776	0.757713701711	0.64085	0.511465907097	0.40427	T	0.327829	0.69830	T	-0.466517	0.00894	T	-0.442355	0.28545	T	0.0128940511416644	0.00221	T	0.669833	0.27843	T	0.085722625	0.19895	0.10824601	0.26072	0.08858965	0.20670	0.09542237	0.22630	-4.851	0.35385	T	0.17195395320445972	0.21703	0.076	0.05979	B	.;.	.;.	1.613968	0.20623	14.83	0.97531160262914396	0.34459	0.37818	0.25848	N	ALL	0.098439	0.19836	N	-0.727764048005726	0.15244	0.7665619	-0.689412544612348	0.17225	0.914936	0.999999964716469	0.74766	0.652421	0.48094	0	0.563428	0.19063	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	4.56	1.15	0.19876	-0.215000	0.09284	0.438000	0.18395	0.597000	0.34315	0.007000	0.17678	0.825000	0.27162	0.599000	0.31363	0.0:0.7009:0.0:0.2991	7.767	0.28151	824	0.40336	CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1743.98	36	chr19	35845476	.	C	T	1743.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.220e-01;DP=847;ExcessHet=0.0000;FS=4.962;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.00;ReadPosRankSum=-6.540e-01;SOR=0.914	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1328	20	0	1	0
chr19	35857151	35857153	TCC	-	exonic	KIRREL2	.	nonframeshift deletion	KIRREL2:NM_001329530:exon1:c.32_34del:p.L13del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	.	0.0001	0	0.0003	0	0	0.0001	0.0022	0.0002	0.00011	17	154602	rs765791761	0.0002	0.0002	0.0002	0.0002	0.0056	0.0001	0.0001	0.0040	0.0035	0.0001	0.0002	0	0	0	0.0056	0.0001	0.0004	0.0002	9.936e-05	9.875e-05	0.0001	5.431e-05	0.0002	6.055e-05	4.918e-05	6.817e-05	5.097e-05	2.438e-05	0	0.0001	0	0	0	0.0034	0.0001	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2108.94	35	chr19	35857150	.	GTCC	G	2108.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.967e+00;DP=809;ExcessHet=0.0000;FS=1.610;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.90;ReadPosRankSum=0.633;SOR=0.520	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1287	20	0	1	0
chr19	35940494	35940494	G	A	exonic	LRFN3	.	nonsynonymous SNV	LRFN3:NM_024509:exon2:c.G1069A:p.E357K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.011	B	0.019	B	0.002	N	0.841	N	0.4	N	1.71	T	-1.101	T	0.033	T	0.395	1.730	11.74	3.51	2.381	0.637	5.416	0.085	0.0354340731409	.	.	0.0001	0	0.0002	0.0001	0	0	0.0028	0.0006	9.06e-05	14	154602	rs751331252	8.225e-05	8.345e-05	4.91e-05	0.0001	0.0010	7.016e-05	6.565e-05	0.0008	0.0007	0	2.245e-05	0	0	0	0	2.879e-05	8.296e-05	0.0010	4.598e-05	4.596e-05	2.569e-05	6.722e-05	0.0008	2.109e-05	1.526e-05	0.0003	0.0002	0	0	6.541e-05	0	0.0002	0	0	1.47e-05	0	0.0008	0.035	0.43708	D	0.077	0.42436	T	0.011	0.15914	B	0.019	0.18783	B	0.002349	0.36727	N	0.000000	0.840691	0.28635	N	0.49	0.13296	N	1.71	0.26737	T	-0.2	0.10136	N	0.244	0.28028	-1.1011	0.03961	T	0.033	0.14117	T	10	0.027206779	0.00871	T	0.035434	0.56343	D	0.085	0.24743	0.556	0.67409	0.324576393752	0.32066	0.5590103974890667	0.55828	0.870241491543	0.69372	0.577299952507	0.49705	T	0.005835	0.05277	T	-0.434406	0.01395	T	-0.464247	0.26139	T	0.0307933017611504	0.02113	T	0.483352	0.14674	T	0.04646985	0.07784	0.05984852	0.11301	0.04646985	0.07783	0.05984852	0.11300	-6.783	0.52433	T	.	.	0.216	0.44553	B	.;.	.;.	2.759943	0.36197	20.2	0.99687181929551294	0.79641	0.25230	0.22636	N	AEFDBI	0.121843	0.23671	N	-0.465887854224109	0.23204	1.244473	-0.348555330005996	0.26554	1.467463	0.0441053848336079	0.14598	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.6	3.51	0.39297	0.431000	0.21163	5.120000	0.47580	-0.177000	0.10537	0.005000	0.17040	1.000000	0.68203	0.880000	0.42090	0.2234:0.0:0.7766:0.0	5.416	0.15675	787	0.46738	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	497.98	40	chr19	35940494	.	G	A	497.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.260e+00;DP=760;ExcessHet=0.0000;FS=1.344;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.23;ReadPosRankSum=0.878;SOR=0.399	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1171	20	0	1	0
chr19	36009376	36009376	C	A	exonic	ALKBH6	.	nonsynonymous SNV	ALKBH6:NM_032878:exon7:c.G715T:p.A239S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.99	D	0.936	D	.	.	1.000	D	0.11	N	.	.	-0.921	T	0.144	T	0.386	4.154	21.5	4.48	1.321	2.782	11.863	0.136	0.0571045517868	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.798e-06	1.368e-05	1.716e-06	1.888e-06	3.365e-05	3e-07	1.1e-07	.	.	0	0	0	0	4.296e-05	0	0	0	3.365e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.724	0.05031	T	0.667	0.06738	T	0.949	0.63424	P	0.57	0.67150	P	.	.	.	.	0.923	0.81001	D	0.635	0.15989	N	.	.	.	0.53	0.02808	N	0.129	0.12341	-0.9210	0.45417	T	0.144	0.46641	T	8	0.15831658	0.29773	T	0.057105	0.66846	D	0.136	0.36778	0.287	0.24601	0.371531589858	0.36766	0.4047141500932037	0.40387	2.18073481268	0.95573	0.690184056759	0.65733	T	0.006118	0.05559	T	-0.0554183	0.43619	T	-0.317381	0.42862	T	0.635153591632843	0.37833	D	0.787021	0.42574	T	0.0841045	0.19450	0.0738741	0.16102	0.0841045	0.19450	0.0738741	0.16101	-3.587	0.17669	T	.	.	0.079	0.07272	B	.;.	.;.	3.054455	0.41000	21.3	0.99440072264835622	0.64720	0.81235	0.40682	D	ALL	0.658910	0.63002	D	0.0463831049159649	0.43976	2.680191	0.0932338512386881	0.44209	2.706973	1.0	0.98316	0.789315	0.99827	0	0.594344	0.48745	0	0.768056	0.98339	0	0.618803	0.45993	0	.	.	5.51	4.48	0.53973	2.135000	0.41735	3.862000	0.40142	0.597000	0.34315	0.826000	0.30074	1.000000	0.68203	0.381000	0.26357	0.0:0.9153:0.0:0.0847	11.863	0.51756	744	0.52588	.;Alpha-ketoglutarate-dependent dioxygenase AlkB-like|Oxoglutarate/iron-dependent dioxygenase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	150.98	22	chr19	36009376	.	C	A	150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.849;DP=565;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.88;ReadPosRankSum=0.201;SOR=1.112	GT:AD:DP:GQ:PL	0/0:24,0:24:72:0,72,813	20	0	1	0
chr19	36039712	36039712	G	A	exonic	THAP8	.	nonsynonymous SNV	THAP8:NM_001331102:exon3:c.C283T:p.R95W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.912	P	0.109	B	0.000	U	1.000	N	0.345	N	-2.45	D	-0.474	T	0.365	T	0.234	1.538	11.09	-0.786	-0.063	-0.390	2.735	0.289	0.042986515711	.	0.000199681	8.862e-05	0	0	0	0	0.0002	0	0	1.29e-05	2	154602	rs564576286	7.327e-06	2.121e-05	5.76e-06	8.949e-06	6.567e-05	3.71e-06	2.7e-06	1.087e-05	4.07e-06	6.567e-05	0	0	2.81e-05	0	0	4.701e-06	1.768e-05	1.372e-05	1.97e-05	1.969e-05	1.285e-05	2.686e-05	6.536e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.536e-05	0	0	0	0	2.941e-05	0	0	0.002	0.72154	D	0.005	0.72224	D	0.912	0.50421	P	0.109	0.31370	B	0.000195	0.00507	U	5.738480	1	0.08975	N	0.805	0.20218	L	-2.45	0.88847	D	-2.58	0.55662	D	0.18	0.19459	-0.4739	0.69587	T	0.365	0.72582	T	10	0.06639665	0.09099	T	0.042987	0.60749	D	0.289	0.60808	0.266	0.21261	0.753410226008	0.75117	0.2943218334270544	0.29345	0.111390099725	0.12571	0.334898948669	0.15673	T	0.044447	0.26817	T	-0.0305233	0.47341	T	-0.281621	0.46637	T	0.288521558046341	0.24528	T	0.60064	0.22426	T	0.13230139	0.30811	0.08614196	0.19936	0.13230139	0.30811	0.08614196	0.19935	-6.713	0.51908	T	.	.	0.096	0.15385	B	.	.	1.673214	0.21333	15.15	0.98813410103599197	0.46655	0.02660	0.07275	N	AEFBI	0.039744	0.05816	N	-0.805690390187772	0.13165	0.6466256	-0.968230054962364	0.10504	0.529421	0.00240997247318465	0.09398	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	2.76	-0.786	0.10394	-0.749000	0.04918	0.158000	0.15372	0.674000	0.70861	0.000000	0.06391	0.000000	0.08366	0.118000	0.19084	0.2453:0.0:0.3331:0.4216	2.735	0.04915	628	0.65206	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1195.98	33	chr19	36039712	.	G	A	1195.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.942;DP=944;ExcessHet=0.0000;FS=0.761;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.08;ReadPosRankSum=0.960;SOR=0.862	GT:AD:DP:GQ:PL	0/1:54,45:99:99:1210,0,1438	20	0	1	0
chr19	36104523	36104523	C	A	exonic	WDR62	.	nonsynonymous SNV	WDR62:NM_001083961:exon31:c.C4159A:p.L1387I	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, Autosomal recessive	.	0	1494	28	0	0	28	0.00928382	.	.	169536	not_specified|not_provided|Microcephaly_2,_primary,_autosomal_recessive,_with_or_without_cortical_malformations	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011435,MedGen:C1858535,OMIM:604317,Orphanet:2512	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.49	T	0.435	B	0.107	B	0.009	N	1.000	N	0.695	N	0.93	T	-1.026	T	0.083	T	0.079	0.667	7.574	2.22	0.759	0.680	6.144	0.043	0.0304345844044	0.0004	0.000798722	0.0010	0	0.0017	0	0	0.0008	0.0022	0.0028	0.0008991	139	154602	rs147652186	0.0005	0.0005	0.0005	0.0006	0.0069	0.0005	0.0005	0.0052	0.0046	0.0001	0.0009	0.0008	0	0	0.0069	0.0004	0.0010	0.0021	0.0005	0.0005	0.0006	0.0005	0.0019	0.0004	0.0004	0.0010	0.0007	0.0001	0	0.0003	0.0009	0.0002	0	0.0034	0.0007	0.0024	0.0019	0.554	0.06502	T	0.4	0.15010	T	0.435	0.35719	B	0.107	0.31211	B	0.008996	0.01226	N	2.611240	1	0.08975	N	1.59	0.40313	L	0.93	0.47477	T	-0.05	0.07736	N	0.136	0.16447	-1.0256	0.21886	T	0.083	0.32642	T	10	0.0052885413	0.00116	T	0.030435	0.52748	D	0.043	0.11576	.	.	0.300784259202	0.29686	0.03788552045407618	0.03734	0.531777514646	0.50659	0.334183216095	0.15565	T	8.6E-4	0.00434	T	-0.617959	0.00113	T	-0.665669	0.07889	T	0.0233234995645755	0.01062	T	0.472453	0.14032	T	0.043267965	0.06712	0.028746992	0.01140	0.039639484	0.05511	0.02602251	0.00671	-6.412	0.49618	T	.	.	0.091	0.13268	B	.;.	.;.	0.534570	0.09034	5.815	0.64237696321947724	0.07438	0.13797	0.18057	N	ALL	0.041564	0.06335	N	-0.835515986372514	0.12409	0.6047094	-0.876454074126796	0.12652	0.6521091	0.999999821045024	0.74766	0.631515	0.41029	0	0.577304	0.33150	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	4.34	2.22	0.27116	0.526000	0.22680	.	.	0.589000	0.31548	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.7691:0.0:0.2309	6.144	0.19493	412	0.82007	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1225.98	34	chr19	36104523	.	C	A	1225.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.490e-01;DP=801;ExcessHet=0.0000;FS=11.003;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.62;ReadPosRankSum=-3.200e-01;SOR=0.192	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1178	20	0	1	0
chr19	36142668	36142668	A	C	exonic	CAPNS1	.	nonsynonymous SNV	CAPNS1:NM_001003962:exon4:c.A260C:p.Y87S	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.072	B	0.009	B	0.017	N	1.000	N	0.69	N	-1.23	T	-0.975	T	0.205	T	0.443	1.310	10.29	2.45	0.904	0.235	4.732	0.172	0.0431829337077	.	0.000199681	0.0002	0	0.0002	0	0	6.005e-05	0.0011	0.0011	0.0001682	26	154602	rs560846443	9.235e-05	9.235e-05	3.539e-05	0.0001	0.0011	7.958e-05	7.431e-05	0.0009	0.0008	2.987e-05	0	0	0	0	0.0005	2.608e-05	0.0001	0.0011	0.0002	0.0002	0.0002	0.0003	0.0021	0.0002	0.0001	0.0011	0.0009	0	0.0209	0	0	0	0	0	8.851e-05	0	0.0021	0.047	0.40319	D	0.361	0.36101	T	0.072	0.23997	B	0.009	0.14300	B	0.016851	0.27871	N	0.375981	1	0.08975	N	0.345	0.11182	N	-1.23	0.82715	T	-0.94	0.25118	N	0.286	0.35832	-0.9752	0.36082	T	0.205	0.56348	T	10	0.0034954846	0.00062	T	0.043183	0.60853	D	0.172	0.43662	0.364	0.37036	0.74828111057	0.74600	0.6401655961385799	0.63951	0.714059627268	0.61863	0.58851236105	0.51284	T	0.33591	0.70548	T	-0.27923	0.10749	T	-0.230219	0.51750	T	0.0292915273457766	0.01882	T	0.654634	0.28733	T	0.22491461	0.45143	0.07173479	0.15395	0.22491461	0.45143	0.07173479	0.15394	-2.06	0.03416	T	.	.	0.507	0.67327	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.941666	0.24664	16.48	0.92997013414460405	0.22585	0.11128	0.16426	N	AEFDGBI	0.398571	0.47419	N	-0.665766569584697	0.17003	0.8712479	-0.59031489521766	0.19744	1.060749	0.999925039050499	0.46280	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.73	2.45	0.28953	0.108000	0.15232	.	.	0.756000	0.94297	0.000000	0.06391	0.808000	0.27011	0.940000	0.48062	0.4973:0.1717:0.0:0.331	4.732	0.12346	385	0.83500	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1342.98	37	chr19	36142668	.	A	C	1342.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=810;ExcessHet=0.0000;FS=0.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=0.523;SOR=0.784	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr19	36515163	36515163	G	T	exonic	ZNF260	.	nonsynonymous SNV	ZNF260:NM_001375596:exon2:c.C76A:p.P26T	.	.	420	1097	5	0	0	5	0.00227376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.0	B	0.002	B	.	.	0.996	N	2.39	M	1.59	T	-0.959	T	0.075	T	0.108	0.598	7.226	-0.88	-0.106	1.504	3.964	0.063	0.0161693882789	.	.	1.668e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs185835535	4.517e-05	4.515e-05	4.358e-05	4.679e-05	0.0007	3.643e-05	3.323e-05	0.0002	0.0001	0	2.24e-05	0	0	0	0.0007	3.779e-05	0.0001	0.0001	3.944e-05	3.941e-05	3.855e-05	4.037e-05	8.819e-05	1.716e-05	1.13e-05	3.761e-05	2.575e-05	0	0	0	0	0	0	0	8.819e-05	0	0	0.013	0.53900	D	0.005	0.72224	D	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	0.995903	0.23169	N	2.33	0.66821	M	1.59	0.28836	T	-4.5	0.78135	D	0.065	0.03841	-0.9590	0.39368	T	0.075	0.30210	T	9	0.07742572	0.12217	T	0.016169	0.37293	T	0.063	0.18251	.	.	0.248417906384	0.24464	0.07242795703977072	0.07179	0.114773647323	0.12943	0.226711019874	0.01733	T	0.230659	0.59678	T	-0.402499	0.02230	T	-0.612339	0.11795	T	0.100067644944883	0.12365	T	0.113689	0.00866	T	0.11288698	0.26666	0.095318064	0.22600	0.11288698	0.26665	0.095318064	0.22599	-6.56	0.50747	T	.	.	0.084	0.09820	B	.;.;.;.	.;.;.;.	1.449740	0.18706	13.88	0.91621967688475381	0.20907	0.24267	0.22340	N	AEFGBCI	0.114723	0.22585	N	-0.801143529766088	0.13281	0.6531519	-0.920897669575921	0.11602	0.5920386	0.0140047679361678	0.12540	0.566229	0.32551	0	0.615513	0.52658	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.19	-0.88	0.10073	1.582000	0.36177	.	.	0.662000	0.56354	0.900000	0.31427	0.000000	0.08366	0.031000	0.13245	0.0828:0.1442:0.4942:0.2788	3.964	0.08918	509	0.75304	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1442.98	33	chr19	36515163	.	G	T	1442.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=839;ExcessHet=0.0000;FS=7.030;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.40;ReadPosRankSum=-1.310e+00;SOR=1.217	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr19	36640001	36640001	C	G	exonic	ZNF461	.	nonsynonymous SNV	ZNF461:NM_001297623:exon5:c.G275C:p.R92T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.608	P	0.19	B	.	.	1.000	N	0.695	N	3.38	T	-0.952	T	0.008	T	0.145	-0.395	2.148	1.54	0.439	-0.383	4.176	0.021	.	0.0029	0.00319489	0.0012	0.0144	0.0003	0	0	6.043e-05	0	6.061e-05	0.0011061	171	154602	rs10412527	0.0004	0.0004	0.0004	0.0003	0.0141	0.0004	0.0004	0.0130	0.0126	0.0141	0.0005	0	0	0	0.0014	1.35e-05	0.0008	4.641e-05	0.0037	0.0037	0.0036	0.0037	0.0128	0.0034	0.0033	0.0119	0.0115	0.0128	0	0.0014	0	0	0	0	0	0.0033	0.0002	0.035	0.43708	D	0.362	0.58089	T	0.421	0.35387	B	0.074	0.28220	B	.	.	.	.	1	0.08975	N	0.83	0.20963	L	3.35	0.05989	T	-1.82	0.42763	N	0.106	0.15469	-0.9515	0.40712	T	0.008	0.02760	T	9	0.0036943257	0.00068	T	.	.	.	0.021	0.04004	.	.	0.211220785272	0.20719	0.14136088061689167	0.14059	0.167058192756	0.18843	0.247211784124	0.03479	T	0.017491	0.14263	T	-0.621814	0.00107	T	-0.654293	0.08656	T	0.00283089787037155	0.00030	T	0.592841	0.35112	T	0.0697507	0.15308	0.048208002	0.07112	0.0697507	0.15307	0.048208002	0.07112	-5.519	0.42045	T	.	.	0.094	0.26700	B	.;.;.;.	.;.;.;.	1.766804	0.22469	15.63	0.78036400402525086	0.12128	0.13746	0.18029	N	AEFGBCI	0.049364	0.08519	N	-0.768371393896349	0.14139	0.7019312	-0.849885411683102	0.13290	0.6886367	0.00227378725985025	0.09286	0.651	0.46895	0	0.670034	0.63936	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	3.09	1.54	0.22290	-0.024000	0.12382	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.877000	0.41881	0.0:0.6718:0.0:0.3282	4.176	0.09815	667	0.61242	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1050.98	35	chr19	36640001	.	C	G	1050.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.584e+00;DP=769;ExcessHet=0.0000;FS=4.337;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.22;ReadPosRankSum=0.117;SOR=0.332	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1400	20	0	1	0
chr19	36720655	36720655	T	C	exonic	ZNF567	.	nonsynonymous SNV	ZNF567:NM_001322911:exon5:c.T1838C:p.I613T	.	.	432	1002	84	4	0	92	0.0438931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.037	B	0.014	B	0.002	N	1.000	D	-0.06	N	3.2	T	-1.004	T	0.013	T	0.183	0.998	9.075	4.88	2.185	1.152	11.057	0.116	.	0.0050	0.014377	0.0132	0.0005	0.0045	0.0002	0.0015	0.0067	0.0208	0.0880	0.012917	1997	154602	rs140175549	0.0096	0.0100	0.0077	0.0115	0.0796	0.0095	0.0094	0.0779	0.0772	0.0008	0.0052	0.0101	0.0002	0.0015	0.0211	0.0059	0.0114	0.0796	0.0070	0.0070	0.0062	0.0077	0.0728	0.0066	0.0065	0.0665	0.0641	0.0009	0.0022	0.0060	0.0086	0.0002	0.0009	0.0272	0.0075	0.0100	0.0728	0.025	0.47745	D	0.035	0.52389	D	0.037	0.20876	B	0.014	0.16862	B	0.001837	0.00831	N	3.122940	1	0.81001	D	-0.26	0.03792	N	3.2	0.08283	T	0.06	0.06253	N	0.052	0.02366	-1.0035	0.28903	T	0.013	0.05177	T	10	0.0017394125	0.00022	T	.	.	.	0.116	0.32463	.	.	.	.	0.02467897446445342	0.02418	0.341437195331	0.36074	0.370252728462	0.20868	T	0.012319	0.10847	T	-0.63367	0.00091	T	-0.622987	0.10953	T	0.00912857202348307	0.00115	T	0.367963	0.08605	T	0.09304879	0.21845	0.085792944	0.19833	0.09304879	0.21844	0.085792944	0.19832	-2.883	0.09406	T	.	.	0.052	0.00742	B	.;.;.	.;.;.	0.981068	0.13585	10.11	0.97326509846944032	0.33403	0.00094	0.00618	N	AEFGBHCI	0.087069	0.17654	N	-0.628539992432899	0.18090	0.9364359	-0.538686525464082	0.21106	1.140228	0.999444655585273	0.39736	0.615465	0.37627	0	0.633656	0.55848	0	0.670488	0.60580	0	0.528226	0.09195	0	.	.	4.88	4.88	0.63131	0.655000	0.24618	.	.	0.497000	0.22564	0.002000	0.15269	0.000000	0.08366	0.780000	0.36908	0.0:0.0:0.0:1.0	11.057	0.47145	604	0.67577	Zinc finger C2H2-type;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2149.11	43	chr19	36720655	.	T	C	2149.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.600e-02;DP=898;ExcessHet=0.1072;FS=4.980;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.33;ReadPosRankSum=0.485;SOR=0.401	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	19	0	2	0
chr19	36876931	36876931	A	G	exonic	ZNF345	.	nonsynonymous SNV	ZNF345:NM_001242472:exon3:c.A101G:p.H34R	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.099	B	0.023	B	.	.	1.000	N	1.39	L	5.5	T	-0.991	T	0.003	T	0.361	1.098	9.481	2.68	0.967	0.254	5.144	0.046	.	7.7e-05	0.0123802	0.0049	0.0002	8.64e-05	0.0645	0	0.0002	0.0066	0.0007	0.0046118	713	154602	rs76873965	0.0023	0.0023	0.0024	0.0022	0.0712	0.0023	0.0022	0.0690	0.0681	0.0001	0.0003	0.0028	0.0712	0	0.0007	8.274e-05	0.0054	0.0005	0.0026	0.0026	0.0024	0.0027	0.0650	0.0024	0.0023	0.0593	0.0570	0.0003	0	0.0008	0.0037	0.0650	0	0.0034	2.94e-05	0.0047	0.0006	0.056	0.38185	T	0.022	0.57587	D	0.099	0.25639	B	0.023	0.19966	B	.	.	.	.	1	0.81001	D	1.61	0.41143	L	3.32	0.08014	T	-4.78	0.81675	D	0.118	0.22486	-0.9906	0.32449	T	0.003	0.00800	T	9	0.0019909441	0.00031	T	.	.	.	0.046	0.12618	.	.	0.346768085243	0.34289	0.07001407372180081	0.06938	0.263554880307	0.28907	0.310773998499	0.12024	T	0.169008	0.51623	T	-0.552404	0.00282	T	-0.512005	0.21110	T	0.0115437652333234	0.00174	T	0.60264	0.22576	T	0.114675306	0.27070	0.13499019	0.32333	0.114675306	0.27070	0.13499019	0.32332	-4.314	0.28373	T	.	.	0.091	0.12891	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	0.701233	0.10700	7.394	0.94274704896020056	0.24565	0.07188	0.13213	N	AEFGBHCI	0.095353	0.19267	N	-0.406527743112467	0.25240	1.368697	-0.337365764649784	0.26903	1.489072	0.0024510503425142	0.09436	0.638212	0.43195	0	0.670034	0.63936	0	0.463624	0.06942	0	0.491896	0.07777	0	.	.	4.96	2.68	0.30839	-0.343000	0.07838	.	.	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.962000	0.52141	0.6273:0.1902:0.0:0.1825	5.144	0.14305	584	0.69381	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2877.08	35	chr19	36876931	.	A	G	2877.08	.	AC=2;AF=0.048;AN=42;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.21;SOR=0.905	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1200	20	1	0	0
chr19	36891896	36891896	T	C	exonic	ZNF829	.	nonsynonymous SNV	ZNF829:NM_001037232:exon6:c.A895G:p.K299E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.645	P	0.223	B	.	.	1.000	N	-0.8	N	3.18	T	-0.992	T	0.008	T	0.252	2.763	15.20	3.18	1.690	-2.044	6.027	0.062	0.00555126399315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.051	0.47828	T	0.645	0.40526	P	0.223	0.37929	B	.	.	.	.	0.999833	0.54805	N	-0.28	0.03718	N	3.18	0.07478	T	-3.11	0.63669	D	0.123	0.13198	-0.9916	0.32193	T	0.008	0.02968	T	9	0.07254508	0.10843	T	0.005551	0.14319	T	0.062	0.17934	0.441	0.49648	0.0551355673512	0.04727	0.017484765724269793	0.01703	0.664488356366	0.59089	0.29109403491	0.09081	T	0.191072	0.54581	T	-0.261315	0.12747	T	-0.613137	0.11732	T	0.688999158805551	0.40202	D	0.00616367	0.00023	T	0.4311698	0.62828	0.31431648	0.57424	0.4311698	0.62829	0.31431648	0.57423	-5.736	0.45016	T	.	.	0.136	0.29724	B	.;.	.;.	2.650023	0.34500	19.64	0.99856481959622156	0.93548	0.04831	0.10559	N	AEFDGBHCI	0.070440	0.13984	N	-0.516737943371161	0.21539	1.143802	-0.44858457885286	0.23588	1.287194	0.0376540911176863	0.14308	0.475973	0.10046	0	0.546412	0.12157	0	0.670488	0.60580	0	0.491896	0.07777	0	.	.	3.18	3.18	0.35615	-1.732000	0.01951	.	.	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.870000	0.41412	0.3617:0.0:0.0:0.6383	6.027	0.18886	584	0.69381	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	709.98	38	chr19	36891896	.	T	C	709.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=768;ExcessHet=0.0000;FS=0.928;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.29;ReadPosRankSum=1.82;SOR=0.796	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1002	20	0	1	0
chr19	36892213	36892213	A	G	exonic	ZNF829	.	nonsynonymous SNV	ZNF829:NM_001037232:exon6:c.T578C:p.F193S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	.	.	1.000	N	2.455	M	1.58	T	-0.688	T	0.139	T	0.804	3.326	17.19	3.41	1.783	6.614	11.758	0.427	.	0.0027	0.00419329	0.0009	0.0102	0.0002	0	0	0	0	0	0.0008667	134	154602	rs10417532	0.0003	0.0003	0.0003	0.0002	0.0109	0.0003	0.0003	0.0100	0.0096	0.0109	0.0004	0	0	0	0.0005	8.993e-07	0.0006	0	0.0031	0.0031	0.0034	0.0028	0.0110	0.0029	0.0028	0.0102	0.0098	0.0110	0	0.0006	0	0	0	0	1.47e-05	0.0033	0	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.994	0.82059	D	.	.	.	.	0.593323	0.81001	N	3.155	0.88459	M	1.58	0.29085	T	-7.38	0.94702	D	0.648	0.74371	-0.6877	0.61015	T	0.139	0.45791	T	9	0.013304174	0.00283	T	.	.	.	0.427	0.73445	.	.	0.502254315933	0.49861	0.13788888609489902	0.13712	0.560825389694	0.52599	0.544849574566	0.45131	T	0.331334	0.70142	T	-0.226397	0.17128	T	-0.0885853	0.64269	T	0.0760402693453777	0.09474	T	0.564244	0.19889	T	0.7389526	0.80232	0.79998976	0.88269	0.7389526	0.80234	0.79998976	0.88270	-9.322	0.69745	D	.	.	0.237	0.47105	B	.;.	.;.	3.833168	0.55424	23.6	0.99861684968781361	0.94002	0.89983	0.50814	D	AEFGBHCI	0.606868	0.59705	D	0.606605409934685	0.73592	5.991337	0.49110162152299	0.67399	5.078816	0.99312765323697	0.33094	0.554377	0.28877	0	0.588066	0.40923	0	0.463624	0.06942	0	0.613276	0.41899	0	.	.	3.41	3.41	0.38145	3.734000	0.54760	.	.	0.756000	0.94297	0.995000	0.38783	0.990000	0.31317	0.059000	0.15899	1.0:0.0:0.0:0.0	11.758	0.51154	584	0.69381	.;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1193.98	38	chr19	36892213	.	A	G	1193.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.81;DP=792;ExcessHet=0.0000;FS=1.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=0.910;SOR=0.996	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1002	20	0	1	0
chr19	36996592	36996592	A	G	exonic	ZNF568	.	nonsynonymous SNV	ZNF568:NM_001204839:exon9:c.A709G:p.I237V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.0	B	0.001	B	.	.	1.000	N	1.01	L	0.21	T	-1.029	T	0.090	T	0.072	1.142	9.652	-4.18	-0.864	0.327	0.298	0.122	.	.	0.00399361	0.0001	0.0038	0	0	0	0	0	0	0.000194	30	154602	rs147275739	0.0003	0.0003	0.0003	0.0002	0.0105	0.0003	0.0002	0.0096	0.0092	0.0105	0.0004	0	0	0	0.0005	9.269e-07	0.0006	0	0.0029	0.0030	0.0032	0.0027	0.0104	0.0027	0.0026	0.0096	0.0093	0.0104	0	0.0006	0	0	0	0	1.47e-05	0.0033	0	0.428	0.13003	T	0.426	0.19908	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.21	0.59983	T	-0.21	0.10308	N	0.026	0.00571	-1.0287	0.20876	T	0.090	0.34546	T	9	0.006840229	0.00155	T	.	.	.	0.122	0.33800	.	.	0.224531998449	0.22054	.	.	.	.	.	.	.	0.004314	0.03719	T	-0.627849	0.00099	T	-0.666677	0.07823	T	0.00148488976018297	0.00015	T	0.00342823	0.00030	T	.	.	.	.	.	.	.	.	-4.641	0.32683	T	.	.	0.089	0.13690	B	.;.;.;.	.;.;.;.	-0.380839	0.02285	0.239	0.46557235499166966	0.03738	0.11218	0.16487	N	AEFGBI	0.073116	0.14614	N	-1.19606970013946	0.05059	0.2297667	-1.29841080241949	0.04452	0.2100497	0.00836801527238504	0.11662	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.98	-4.18	0.03584	-0.262000	0.08706	.	.	0.658000	0.54486	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.375:0.1372:0.218:0.2699	0.298	0.00250	662	0.61715	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1743.98	33	chr19	36996592	.	A	G	1743.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.81;DP=826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=0.504;SOR=0.657	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,103,1336	20	0	1	0
chr19	37127298	37127298	C	T	exonic	ZNF420	.	stopgain	ZNF420:NM_001329516:exon4:c.C307T:p.Q103X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	2.597	14.64	-0.174	0.314	0.214	2.113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs933007155	4.107e-06	4.788e-06	2.724e-06	5.505e-06	0.0003	1.48e-06	9.7e-07	6.099e-05	2.524e-05	0	0	0	0	0	0.0003	2.699e-06	1.657e-05	0	6.575e-06	6.568e-06	0	1.346e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123667	0.66737	D	-0.0601378	0.66322	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Recessive	.;.;.;High	6.244475	0.94867	34	0.99612563889211236	0.74932	0.00006	0.00120	N	AEFDBCI	0.038064	0.05330	N	0.123433850047959	0.47559	2.979801	-0.240211054022388	0.30109	1.692545	2.48561081451963E-4	0.06141	0.615465	0.37627	0	0.633656	0.55848	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.77	-0.174	0.12665	-0.242000	0.08945	.	.	0.511000	0.23309	0.000000	0.06391	0.000000	0.08366	0.965000	0.52897	0.1995:0.489:0.1947:0.1168	2.113	0.03483	646	0.63441	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1290.98	34	chr19	37127298	.	C	T	1290.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.780e-01;DP=793;ExcessHet=0.0000;FS=1.574;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=-1.439e+00;SOR=0.509	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1018	20	0	1	0
chr19	37127439	37127439	C	T	exonic	ZNF420	.	stopgain	ZNF420:NM_001329516:exon4:c.C448T:p.R150X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.592	25.0	2.19	1.660	-1.542	8.448	.	.	.	.	8.245e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	.	2.736e-06	2.736e-06	2.723e-06	2.75e-06	2.698e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	1.873e-05	0	2.698e-06	0	0	6.572e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.107	0.09207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374357	0.88344	D	0.299962	0.88197	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Recessive	.;.;.;High	6.411126	0.95167	34	0.99740776001665898	0.83482	0.00011	0.00159	N	AEFGBCI	0.052108	0.09270	N	0.320207789040213	0.57188	3.885	0.0677518563367714	0.42938	2.606087	0.0270494672820356	0.13750	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.28	2.19	0.26890	-1.833000	0.01789	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.993000	0.69303	0.0:0.8743:0.0:0.1257	8.448	0.32013	646	0.63441	Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1125.98	34	chr19	37127439	.	C	T	1125.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.144;DP=801;ExcessHet=0.0000;FS=2.565;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.83;ReadPosRankSum=-2.910e-01;SOR=0.616	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1018	20	0	1	0
chr19	37129036	37129036	-	TGGCTCACAAGTTTACATGTGAATTGTC	exonic	ZNF420	.	stopgain	ZNF420:NM_001329520:exon4:c.1832_1833insTGGCTCACAAGTTTACATGTGAATTGTC:p.H611_G612delinsHGSQVYMX	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1461.94	34	chr19	37129036	.	A	ATGGCTCACAAGTTTACATGTGAATTGTC	1461.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.430e-01;DP=826;ExcessHet=0.0000;FS=12.929;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.76;ReadPosRankSum=0.920;SOR=2.115	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1018	20	0	1	0
chr19	37186371	37186371	C	T	exonic	ZNF585B	.	nonsynonymous SNV	ZNF585B:NM_152279:exon5:c.G1166A:p.R389K,	.	.	358	1161	3	0	0	3	0.00129032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.001	N	1.000	D	-1.215	N	2.77	T	-0.950	T	0.004	T	0.072	-0.450	1.912	2.89	0.323	2.100	6.372	0.035	.	.	0.0113818	0.0028	0.0303	0.0010	0.0001	0	0.0001	0	0.0003	0.0026649	412	154602	rs112958950	0.0009	0.0009	0.0010	0.0007	0.0291	0.0008	0.0008	0.0276	0.0270	0.0291	0.0012	0	5.038e-05	1.872e-05	0.0028	7.104e-05	0.0018	0.0003	0.0078	0.0079	0.0082	0.0075	0.0274	0.0075	0.0073	0.0261	0.0255	0.0274	0	0.0020	0	0	0	0	0.0001	0.0062	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.001214	0.39820	N	0.000000	1	0.81001	D	-0.385	0.03041	N	2.77	0.11407	T	2.68	0.00194	N	0.107	0.11054	-0.9497	0.41023	T	0.004	0.01159	T	10	0.0025695264	0.00039	T	.	.	.	0.035	0.08770	.	.	0.130388298395	0.12655	0.026753635890488656	0.02625	0.301449138178	0.32482	0.514855742455	0.40903	T	0.017921	0.14537	T	-0.690429	0.00042	T	-0.742217	0.03798	T	0.00102930978295012	0.00010	T	0.0376962	0.00261	T	0.048542056	0.08476	0.052093543	0.08514	0.048542056	0.08476	0.052093543	0.08514	0.294	0.00260	T	.	.	0.065	0.02038	B	.;.	.;.	1.396874	0.18105	13.55	0.37341747942745823	0.02455	0.03623	0.08862	N	AEFGBCI	0.051975	0.09233	N	-1.05986893306434	0.07395	0.3434153	-0.843721152194992	0.13438	0.6971309	0.00228101637099544	0.09286	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.89	2.89	0.32713	1.531000	0.35624	.	.	-0.223000	0.07921	0.875000	0.30889	0.004000	0.18990	0.890000	0.42831	0.0:0.1313:0.0:0.8687	6.372	0.20690	647	0.63344	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1356.98	48	chr19	37186371	.	C	T	1356.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.020e-01;DP=944;ExcessHet=0.0000;FS=5.283;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=51.96;MQRankSum=-4.180e+00;QD=14.75;ReadPosRankSum=-1.118e+00;SOR=1.247	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr19	37363383	37363383	T	C	exonic	ZNF875	.	nonsynonymous SNV	ZNF875:NM_001329773:exon4:c.T1408C:p.C470R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	1.000	D	3.935	H	-2.05	D	0.757	D	0.809	D	0.889	2.552	14.49	2.58	1.433	6.612	10.350	0.636	0.0340206529056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999998	0.81001	D	4.135	0.97499	H	-2.05	0.85799	D	-11.47	0.99449	D	0.676	0.72209	0.757	0.93884	D	0.809	0.93554	D	9	0.9204794	0.91403	D	0.034021	0.55387	D	0.636	0.86078	0.738	0.87063	0.89265337133	0.89159	0.22891025975944262	0.22806	0.289271763004	0.31336	0.774953901768	0.78166	T	0.436478	0.80800	T	0.424562	0.91256	D	0.372078	0.91147	D	0.998771131038666	0.95127	D	0.754025	0.37642	T	0.93288463	0.94526	0.8844643	0.93876	0.93288463	0.94527	0.8844643	0.93876	-10.981	0.79554	D	.	.	0.918	0.87293	P	.;.;.;.;.;.	.;.;.;.;.;.	3.527942	0.49482	22.8	0.99659418927396026	0.77820	0.98760	0.86500	D	AEFDBI	0.789416	0.71861	D	0.683429757904828	0.78549	6.893645	0.47970057852637	0.66645	4.979275	0.999999926168804	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	2.58	2.58	0.30011	5.090000	0.64332	.	.	0.659000	0.54702	1.000000	0.71638	0.912000	0.28152	0.819000	0.38590	0.0:0.0:0.0:1.0	10.350	0.43109	689	0.59000	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2224.98	35	chr19	37363383	.	T	C	2224.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.980e-01;DP=1401;ExcessHet=0.0000;FS=3.298;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=-4.580e-01;SOR=0.970	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1575	20	0	1	0
chr19	37412673	37412673	T	C	exonic	ZNF569	.	nonsynonymous SNV	ZNF569:NM_001330482:exon5:c.A1508G:p.Y503C	.	.	410	1109	2	1	0	4	0.00180018	.	.	3361297	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.995	D	0.009	N	1.000	N	2.74	M	1.8	T	-0.848	T	0.147	T	0.738	2.445	14.13	3.14	0.741	0.291	4.578	0.202	0.0106413671043	.	.	8.254e-05	0	0.0007	0	0	3.003e-05	0	0	6.47e-05	10	154602	rs747306043	3.079e-05	3.078e-05	2.723e-05	3.438e-05	0.0006	2.347e-05	2.095e-05	0.0005	0.0004	2.987e-05	0.0006	3.83e-05	0	0	0.0002	6.295e-06	8.281e-05	1.16e-05	0.0001	0.0001	6.422e-05	0.0002	0.0010	7.089e-05	5.746e-05	0.0006	0.0005	4.822e-05	0	0.0010	0	0	0	0	0	0	0	0.001	0.78490	D	0.008	0.69154	D	1.0	0.90584	D	0.995	0.83170	D	0.008961	0.30578	N	0.000000	0.741466	0.29730	N	2.345	0.67358	M	1.8	0.25344	T	-5.58	0.90568	D	0.438	0.49055	-0.8477	0.52127	T	0.147	0.47183	T	10	0.12216997	0.23171	T	0.010641	0.27409	T	0.202	0.48754	0.603	0.73466	0.523082183605	0.51953	0.3073746671299977	0.30650	0.650027185454	0.58299	0.637100934982	0.58152	T	0.354733	0.72184	T	-0.25425	0.13582	T	-0.224718	0.52282	T	0.316531717777252	0.25681	T	0.537746	0.21384	T	0.479049	0.65843	0.39182153	0.63942	0.479049	0.65843	0.39182153	0.63942	-7.181	0.55345	T	.	.	0.607	0.69751	P	.;.;.	.;.;.	4.944200	0.81613	27.6	0.99718360210941748	0.81843	0.27344	0.23251	N	AEFGBCI	0.204091	0.33056	N	0.00491316972597985	0.42079	2.528618	-0.0898367566427423	0.35808	2.076177	0.193001730981201	0.18023	0.638212	0.43195	0	0.633656	0.55848	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	4.16	3.14	0.35196	-0.722000	0.05061	.	.	0.644000	0.52426	0.000000	0.06391	0.998000	0.33993	0.985000	0.61073	0.1696:0.0957:0.0:0.7347	4.578	0.11640	634	0.64659	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1010.98	36	chr19	37412673	.	T	C	1010.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=804;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=0.037;SOR=0.653	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1258	20	0	1	0
chr19	37565764	37565764	G	A	exonic	ZNF571	.	nonsynonymous SNV	ZNF571:NM_001321272:exon4:c.C664T:p.P222S	.	.	410	1110	2	0	0	2	0.00090009	.	.	3417046	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.999	D	0.985	D	.	.	1.000	N	2.28	M	2.32	T	-0.972	T	0.105	T	0.203	3.589	18.28	2.71	0.760	6.761	10.015	0.272	0.0178259757425	0.0002	.	0.0002	0	8.702e-05	0	0	0.0002	0	0.0003	0.0001617	25	154602	rs140269526	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	0	0.0002	3.827e-05	0	0	0.0002	0.0002	4.969e-05	0.0003	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	8.736e-05	0.0002	0.0001	4.829e-05	0	0.0001	0	0	9.5e-05	0	0.0002	0	0.0006	0.003	0.68238	D	0.012	0.63918	D	0.999	0.77913	D	0.985	0.76457	D	.	.	.	.	1	0.81001	D	1.26	0.31868	L	2.32	0.16640	T	-6.8	0.92903	D	0.165	0.22998	-0.9715	0.36883	T	0.105	0.38415	T	9	0.22705871	0.39577	T	0.017826	0.39680	T	0.272	0.58758	.	.	0.350964488264	0.34705	0.0340020336512854	0.03348	0.213902671836	0.23913	0.379356086254	0.22165	T	0.044079	0.26705	T	-0.424963	0.01591	T	-0.54223	0.18077	T	0.364519462227136	0.27585	T	0.39666	0.09990	T	0.44973764	0.64024	0.47836682	0.69783	0.44973764	0.64025	0.47836682	0.69783	-6.021	0.46455	T	.	.	0.670	0.71722	P	.;.;.;.	.;.;.;.	3.752891	0.53807	23.4	0.99882580132926368	0.95813	0.00459	0.02214	N	AEFGBHCI	0.750199	0.69139	D	0.399737121872903	0.61409	4.341507	0.263851037517124	0.53442	3.513068	0.882304057536865	0.25650	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	3.76	2.71	0.31092	3.490000	0.53007	.	.	0.595000	0.32841	0.996000	0.39380	0.000000	0.08366	0.835000	0.39381	0.1047:0.0:0.8953:0.0	10.015	0.41180	658	0.62094	Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1439.98	33	chr19	37565764	.	G	A	1439.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=1077;ExcessHet=0.0000;FS=3.916;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.82;ReadPosRankSum=0.451;SOR=0.405	GT:AD:DP:GQ:PL	0/0:100,0:100:99:0,120,1800	20	0	1	0
chr19	37565977	37565977	G	T	exonic	ZNF571	.	nonsynonymous SNV	ZNF571:NM_001321272:exon4:c.C451A:p.L151M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.03	B	0.063	B	.	.	1.000	N	0.985	L	3.1	T	-0.945	T	0.015	T	0.212	2.669	14.89	-6.47	-1.278	-1.228	5.844	0.010	0.00176210094268	.	.	2.476e-05	0	0	0	0	1.501e-05	0	0.0001	1.94e-05	3	154602	rs761281720	1.369e-05	1.368e-05	8.17e-06	1.926e-05	0.0002	8.94e-06	7.27e-06	9.792e-05	7.838e-05	0	0	0	0	0	0	3.598e-06	3.312e-05	0.0002	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.224	0.18691	T	0.157	0.31730	T	0.03	0.20002	B	0.063	0.27082	B	.	.	.	.	0.999984	0.18198	N	1.06	0.26948	L	3.1	0.08283	T	0.46	0.03140	N	0.181	0.21969	-0.9450	0.41814	T	0.015	0.05801	T	9	0.036863506	0.02007	T	0.001762	0.02986	T	0.010	0.01040	0.29	0.25081	0.0954503805726	0.09146	0.02854300279554754	0.02804	0.226271815611	0.25184	0.220005750656	0.01310	T	0.005887	0.05335	T	-0.532871	0.00369	T	-0.71106	0.05241	T	0.0559939835027057	0.06523	T	0.49905	0.15565	T	0.060746707	0.12500	0.055178367	0.09629	0.060746707	0.12500	0.055178367	0.09628	-5.949	0.45850	T	.	.	0.107	0.19919	B	.;.;.;.	.;.;.;.	-0.343621	0.02432	0.276	0.98063607287068932	0.37968	0.00018	0.00208	N	AEFBCI	0.056600	0.10476	N	-1.24960392743184	0.04305	0.1940326	-1.36796110529022	0.03599	0.1681914	0.17684827624108	0.17816	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	3.23	-6.47	0.01731	-2.933000	0.00753	.	.	-0.276000	0.06580	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0874:0.5338:0.1676:0.2113	5.844	0.17905	658	0.62094	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1879.98	41	chr19	37565977	.	G	T	1879.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.489e+00;DP=904;ExcessHet=0.0000;FS=1.468;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.28;ReadPosRankSum=0.968;SOR=0.558	GT:AD:DP:GQ:PL	0/1:53,70:123:99:1894,0,1455	20	0	1	0
chr19	37611846	37611846	G	A	exonic	ZNF540	.	nonsynonymous SNV	ZNF540:NM_001172226:exon4:c.G470A:p.C157Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.987	D	.	.	1.000	N	2.655	M	0.34	T	-0.527	T	0.330	T	0.377	1.627	11.40	2.17	1.193	2.334	9.968	0.308	0.0172981125605	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1378256877	2.052e-06	2.052e-06	1.361e-06	2.751e-06	0.0003	5.5e-07	1.5e-07	6.121e-05	2.532e-05	0	0	0	0	0	0.0003	8.993e-07	0	0	6.57e-06	6.567e-06	1.284e-05	0	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	0.015	0.52492	D	0.0	0.92824	D	1.0	0.90584	D	0.97	0.77487	D	.	.	.	.	1	0.81001	D	2.715	0.79425	M	0.34	0.58176	T	-8.38	0.97104	D	0.402	0.50958	-0.5272	0.67647	T	0.330	0.69783	T	9	0.9580461	0.95183	D	0.017298	0.38942	T	0.308	0.62947	0.802	0.92089	0.76900988633	0.76689	0.029234694314570583	0.02872	0.464410950869	0.45914	0.361406803131	0.19590	T	0.282651	0.65539	T	-0.0472801	0.44860	T	-0.305691	0.44120	T	0.777593021672362	0.44900	D	0.345165	0.12934	T	0.34690282	0.56825	0.3458708	0.60263	0.34690282	0.56825	0.3458708	0.60263	-7.887	0.60298	D	.	.	0.336	0.57591	B	.;.;.;.;.	.;.;.;.;.	1.709873	0.21777	15.34	0.56342352270712237	0.05532	0.49155	0.28369	N	AEFGBI	0.214750	0.34019	N	0.0255939910459795	0.43020	2.603319	-0.242480212625673	0.30032	1.687441	0.799200868544404	0.24156	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.17	2.17	0.26736	2.429000	0.44415	.	.	0.452000	0.21348	0.851000	0.30461	0.000000	0.08366	0.039000	0.14166	0.0:0.0:1.0:0.0	9.968	0.40907	658	0.62094	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1917.98	35	chr19	37611846	.	G	A	1917.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.570e-01;DP=845;ExcessHet=0.0000;FS=2.204;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.64;ReadPosRankSum=-1.489e+00;SOR=0.904	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr19	37635541	37635541	C	T	exonic	ZFP30	.	nonsynonymous SNV	ZFP30:NM_001320666:exon6:c.G1000A:p.A334T	.	.	413	1107	2	0	0	2	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.964	D	0.831	P	0.004	N	1.000	N	0.405	N	2.31	T	-1.096	T	0.038	T	0.394	2.577	14.58	2.95	2.223	-1.104	4.582	0.174	0.00451072187831	0.0009	0.000599042	0.0003	0.0022	0.0002	0	0	0.0001	0	0	0.0002523	39	154602	rs141842856	0.0001	0.0001	0.0001	0.0001	0.0025	0.0001	0.0001	0.0021	0.0019	0.0025	0.0002	0	0	0	0.0007	6.205e-05	0.0003	0	0.0007	0.0007	0.0007	0.0008	0.0024	0.0006	0.0006	0.0020	0.0019	0.0024	0	0.0003	0	0	0	0	5.882e-05	0.0019	0	0.185	0.21550	T	0.371	0.16425	T	0.964	0.55854	D	0.831	0.59664	P	0.003675	0.34636	N	0.000000	1	0.81001	D	0.38	0.12130	N	2.31	0.16794	T	-2.12	0.48184	N	0.25	0.28264	-1.0956	0.04667	T	0.038	0.16290	T	10	0.013014019	0.00277	T	0.004511	0.11094	T	0.174	0.44019	.	.	0.367992661779	0.36405	0.028239613135286393	0.02773	0.486635153239	0.47518	0.622105419636	0.56026	T	0.149553	0.48861	T	-0.513588	0.00479	T	-0.516058	0.20695	T	0.056295092815681	0.06572	T	0.229177	0.03066	T	0.10951888	0.25893	0.13639335	0.32630	0.10951888	0.25893	0.13639335	0.32630	-5.625	0.43020	T	.	.	0.128	0.28057	B	.;.	.;.	3.192632	0.43383	21.7	0.99859430731946053	0.93820	0.21436	0.21401	N	AEFDGBHCI	0.106616	0.21267	N	0.00283102208576506	0.41985	2.521209	-0.0391863782766389	0.37961	2.229943	0.451928258260589	0.20548	0.566229	0.32551	0	0.615513	0.52658	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	3.99	2.95	0.33285	0.103000	0.15128	.	.	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.999000	0.91618	0.3465:0.5436:0.0:0.1099	4.582	0.11660	662	0.61715	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2004.98	36	chr19	37635541	.	C	T	2004.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.056;DP=803;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.85;ReadPosRankSum=-1.255e+00;SOR=0.759	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1114	20	0	1	0
chr19	37698149	37698149	C	T	exonic	ZNF607	.	nonsynonymous SNV	ZNF607:NM_001172677:exon5:c.G1979A:p.S660N	.	.	0	225	1	0	0	1	0.00221729	.	.	2216691	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.32	T	0.141	B	0.028	B	.	.	1.000	N	0	N	2.22	T	-0.972	T	0.016	T	0.012	2.819	15.39	-1.17	0.118	-2.204	1.746	0.025	0.000935145265871	0.0008	.	0.0003	0.0004	0.0003	0	0	0.0005	0	0	0.0003234	50	154602	rs139379295	0.0005	0.0005	0.0006	0.0005	0.0006	0.0005	0.0005	0.0006	0.0006	0.0003	0.0005	0.0002	0	3.746e-05	0.0005	0.0006	0.0006	1.159e-05	0.0005	0.0005	0.0005	0.0005	0.0009	0.0004	0.0004	0.0006	0.0005	0.0003	0.0044	0.0009	0	0	9.429e-05	0	0.0007	0.0005	0	0.245	0.17410	T	0.083	0.41573	T	0.141	0.27581	B	0.028	0.21332	B	.	.	.	.	1	0.08975	N	0.585	0.15399	N	2.22	0.18248	T	-1.15	0.29525	N	0.026	0.00527	-0.9718	0.36819	T	0.016	0.06473	T	9	0.012997538	0.00277	T	9.35E-4	0.00911	T	0.025	0.05312	.	.	0.119812018005	0.11559	0.010580781535400386	0.01019	0.0480783259734	0.05242	0.250165164471	0.03785	T	0.008664	0.07944	T	-0.674773	0.00051	T	-0.840598	0.01089	T	0.0126990806324078	0.00214	T	0.505249	0.15946	T	0.05761018	0.11485	0.050995827	0.08118	0.05761018	0.11485	0.050995827	0.08117	-4.672	0.33428	T	.	.	0.135	0.29311	B	.;.	.;.	0.832890	0.12043	8.599	0.97799904414690175	0.36058	0.00437	0.02136	N	AEFDGBI	0.024300	0.01482	N	-1.08698552086349	0.06882	0.3180984	-1.10654455257675	0.07574	0.3689679	0.922543987093366	0.26712	0.651	0.46895	0	0.633656	0.55848	0	0.65145	0.50148	0	0.613276	0.41899	0	.	.	1.95	-1.17	0.09152	-5.935000	0.00109	.	.	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.100000	0.18284	0.1557:0.4294:0.2413:0.1736	1.746	0.02783	652	0.62785	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1419.98	33	chr19	37698149	.	C	T	1419.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.541;DP=791;ExcessHet=0.0000;FS=1.564;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=-1.696e+00;SOR=0.527	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1114	20	0	1	0
chr19	37885345	37885345	G	A	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.C8326T:p.R2776W	.	.	.	.	.	.	.	.	.	.	.	1239030	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.993	D	.	.	0.858	N	0.975	L	0.93	T	-1.111	T	0.017	T	0.464	1.568	11.20	3.83	2.692	0.932	8.410	0.151	.	.	0.0245607	0.0063	0.0022	0.0396	0.0654	0	0.0001	0.0174	0.0082	0.0030595	473	154602	rs117520417	0.0040	0.0039	0.0042	0.0039	0.0696	0.0040	0.0039	0.0673	0.0664	0.0008	0.0696	0	0.0576	0	0	6.766e-05	0.0071	0.0076	0.0070	0.0070	0.0062	0.0080	0.0689	0.0067	0.0065	0.0631	0.0607	0.0017	0	0.0372	0	0.0689	0	0	0.0001	0.0109	0.0091	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.989	0.78396	D	.	.	.	.	0.858376	0.28393	N	.	.	.	0.93	0.44065	T	-3.94	0.73378	D	0.478	0.51315	-1.1108	0.03002	T	0.017	0.06855	T	9	0.0028811097	0.00046	T	.	.	.	0.151	0.39764	.	.	.	.	0.2841956475103223	0.28332	.	.	0.392634630203	0.24040	T	.	.	.	-0.46815	0.00873	T	-0.384393	0.35207	T	0.0507914978096562	0.05639	T	0.720728	0.33361	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.41783	B	.;.	.;.	4.485774	0.70031	25.5	0.96955808771800434	0.31755	0.62522	0.31807	D	AEFGBCI	0.318396	0.42211	N	0.410487341846021	0.61998	4.408828	0.394013127577303	0.61194	4.316279	0.0110701759682301	0.12125	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.86	3.83	0.43287	0.992000	0.29268	.	.	0.676000	0.76740	0.994000	0.38300	0.995000	0.32472	0.990000	0.65344	0.1039:0.0:0.8961:0.0	8.410	0.31801	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1293.98	78	chr19	37885345	.	G	A	1293.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.16;DP=2086;ExcessHet=0.0000;FS=4.628;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.66;ReadPosRankSum=-3.420e-01;SOR=0.527	GT:AD:DP:GQ:PL	0/0:88,0:88:99:0,120,1800	20	0	1	0
chr19	37885478	37885478	C	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G8193C:p.K2731N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.976	D	.	.	1.000	N	0.975	L	0.95	T	-0.990	T	0.144	T	0.216	-0.178	3.135	0.113	0.135	0.214	6.778	0.061	0.0424069194523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.01	0.65728	D	1.0	0.90584	D	0.966	0.71341	D	.	.	.	.	1	0.08975	N	.	.	.	0.95	0.43279	T	-2.63	0.56466	D	0.396	0.44283	-0.9896	0.32702	T	0.144	0.46605	T	9	0.20194328	0.36296	T	0.042407	0.60446	D	0.061	0.17616	0.298	0.26362	0.184867976434	0.18130	0.16500171187729412	0.16420	.	.	0.54839849472	0.45631	T	.	.	.	-0.19616	0.21360	T	-0.519546	0.20339	T	0.395060750468901	0.28756	T	0.440756	0.12177	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.603	0.69456	P	.;.	.;.	2.937630	0.39049	20.9	0.61567676950263228	0.06741	0.48320	0.28180	N	AEFDBHCI	0.070667	0.14036	N	-0.260728531451413	0.30676	1.712781	-0.407094091885144	0.24789	1.359421	0.0057692984484574	0.11036	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	4.55	0.113	0.13937	0.029000	0.13555	.	.	-0.171000	0.11205	0.995000	0.38783	0.069000	0.22184	0.951000	0.49849	0.0:0.6152:0.0:0.3848	6.778	0.22818	646	0.63441	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1845.98	177	chr19	37885478	.	C	G	1845.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.528e+00;DP=2973;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-1.077e+00;SOR=0.649	GT:AD:DP:GQ:PL	0/0:88,0:88:99:0,120,1800	20	0	1	0
chr19	37887093	37887093	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6578C:p.I2193T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.0	B	0.001	B	.	.	1.000	N	0.55	N	-0.28	T	-0.989	T	0.121	T	0.114	1.268	10.14	-4.52	-1.174	-2.695	8.886	0.030	0.0455139123668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.853e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.22138	T	0.693	0.05882	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	-0.28	0.67543	T	-0.07	0.08033	N	0.067	0.03956	-0.9885	0.32978	T	0.121	0.42208	T	9	0.0735006	0.11114	T	0.045514	0.62018	D	0.030	0.07022	0.322	0.30226	0.0551355673512	0.04727	0.019455290587693495	0.01899	.	.	0.366222500801	0.20289	T	.	.	.	-0.271564	0.11583	T	-0.627859	0.10578	T	0.0769434833446011	0.09592	T	0.353365	0.07952	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.37293	B	.;.	.;.	-1.370848	0.00382	0.007	0.78222985595802419	0.12208	0.01418	0.04786	N	AEFGBI	0.030388	0.03052	N	-1.5918959215929	0.01305	0.05684392	-1.65151224496589	0.01368	0.06179205	0.00476714215870287	0.10704	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	-4.52	0.03227	-2.190000	0.01332	.	.	-0.612000	0.04583	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3557:0.1261:0.5182:0.0	8.886	0.34564	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3438	3239.79	87	chr19	37887093	.	A	G	3239.79	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-3.813e+00;DP=2213;ExcessHet=7.7275;FS=216.184;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.406;MQ=60.00;MQRankSum=0.00;QD=2.67;ReadPosRankSum=1.38;SOR=11.319	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,40:120:99:0|1:37887093_A_G:769,0,2744:37887093	5	0	11	5
chr19	37887095	37887095	C	T	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G6576A:p.M2192I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.001	B	0.001	B	.	.	1.000	N	0	N	1.1	T	-1.038	T	0.044	T	0.146	0.505	6.738	0.383	0.403	-0.759	2.678	0.009	0.0204136497208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.276	0.22016	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.1	0.39050	T	-0.48	0.15379	N	0.108	0.10483	-1.0375	0.18078	T	0.044	0.18948	T	9	0.05899042	0.07022	T	0.020414	0.42999	T	0.009	0.00846	0.39	0.41279	0.0920862733494	0.08535	0.029034270678991596	0.02852	.	.	0.393157303333	0.24114	T	.	.	.	-0.264741	0.12349	T	-0.618058	0.11338	T	0.0694930752056396	0.08580	T	0.381062	0.09207	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.64238	A	.;.	.;.	0.319938	0.06943	3.492	0.38647600985457964	0.02619	0.03920	0.09307	N	AEFGBI	0.049399	0.08530	N	-1.08419287681575	0.06934	0.320632	-1.08622430549721	0.07971	0.3899139	4.11720576999195E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	0.383	0.15462	0.602000	0.23833	.	.	0.589000	0.31548	0.070000	0.22072	0.000000	0.08366	0.013000	0.09966	0.3759:0.3632:0.0:0.2609	2.678	0.04771	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	6132.23	64	chr19	37887095	.	C	T	6132.23	.	AC=15;AF=0.500;AN=30;BaseQRankSum=-4.055e+00;DP=2145;ExcessHet=17.4423;FS=296.629;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.600;MQ=60.00;MQRankSum=0.00;QD=3.74;ReadPosRankSum=1.29;SOR=12.164	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:80,31:116:99:.:.:722,0,2753	0	0	15	6
chr19	37887096	37887096	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6575C:p.M2192T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.213	B	0.033	B	.	.	1.000	N	0	N	1.06	T	-1.038	T	0.045	T	0.239	-0.012	3.951	2.35	0.269	1.921	5.276	0.034	0.0229314344301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.173e-07	2.259e-05	1.416e-06	0	9.296e-07	0	0	.	.	0	0	0	0	0	0	9.296e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.639	0.06992	T	0.213	0.30041	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	.	.	.	1.06	0.39781	T	-1.37	0.33998	N	0.241	0.27197	-1.0379	0.17954	T	0.045	0.19437	T	9	0.07963219	0.12831	T	0.022931	0.45860	T	0.034	0.08419	0.354	0.35408	0.132336055621	0.12781	0.09333230472886582	0.09265	.	.	0.44281449914	0.30962	T	.	.	.	-0.187347	0.22650	T	-0.506887	0.21634	T	0.185715109109879	0.19588	T	0.310469	0.06031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.66846	A	.;.	.;.	1.675669	0.21359	15.17	0.2656475844503623	0.01278	0.05870	0.11817	N	AEFGBI	0.068161	0.13433	N	-0.937720259489842	0.09970	0.4742779	-0.936529822273914	0.11236	0.5712116	0.00186976402927546	0.08957	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	2.35	0.28166	3.208000	0.50816	.	.	0.743000	0.86499	0.302000	0.25342	0.056000	0.21938	0.017000	0.10941	0.637:0.1851:0.0:0.1778	5.276	0.14959	646	0.63441	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	5559.48	64	chr19	37887096	.	A	G	5559.48	.	AC=15;AF=0.469;AN=32;BaseQRankSum=-3.174e+00;DP=2173;ExcessHet=17.4423;FS=266.005;InbreedingCoeff=-0.7148;MLEAC=18;MLEAF=0.563;MQ=60.00;MQRankSum=0.00;QD=3.41;ReadPosRankSum=1.27;SOR=11.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,40:119:99:0|1:37887093_A_G:772,0,2709:37887093	1	0	15	5
chr19	37889059	37889059	C	A	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G4612T:p.A1538S	.	.	.	.	.	.	.	.	.	.	.	1168430	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.5	T	0.118	B	0.025	B	.	.	1.000	N	0.345	N	0.85	T	-1.078	T	0.006	T	0.04	1.192	9.844	0.46	0.197	-0.175	10.317	0.013	.	0.0013	0.024361	0.0056	0.0017	0.0381	0.0649	0	0.0002	0.0157	0.0077	0.0030401	470	154602	rs117923468	0.0040	0.0038	0.0042	0.0039	0.0697	0.0039	0.0039	0.0674	0.0664	0.0008	0.0697	0	0.0576	0	0	6.116e-05	0.0070	0.0073	0.0070	0.0070	0.0061	0.0080	0.0687	0.0067	0.0065	0.0628	0.0605	0.0017	0	0.0372	0	0.0687	0	0.0034	0.0001	0.0109	0.0087	0.194	0.20835	T	0.131	0.34596	T	0.118	0.26577	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	.	.	.	0.85	0.47130	T	0.22	0.04694	N	0.036	0.01068	-1.0781	0.07721	T	0.006	0.02131	T	9	0.0026799738	0.00041	T	.	.	.	0.013	0.01715	.	.	.	.	0.14072687596123543	0.13995	.	.	0.179036736488	0.00085	T	.	.	.	-0.718824	0.00028	T	-0.745304	0.03672	T	0.00154021766476613	0.00016	T	0.446455	0.12522	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17317	B	.;.	.;.	0.360647	0.07334	3.948	0.65942672752719744	0.07916	0.16607	0.19467	N	AEFGBI	0.065632	0.12813	N	-1.08438278733977	0.06930	0.3204538	-1.10941378194507	0.07519	0.3660862	0.0161617039132125	0.12799	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	2.85	0.46	0.15895	0.396000	0.20592	.	.	-0.187000	0.09635	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6157:0.3843:0.0	10.317	0.42925	646	0.63441	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	990.98	37	chr19	37889059	.	C	A	990.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.931;DP=1275;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.01;ReadPosRankSum=-4.840e-01;SOR=0.669	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	20	0	1	0
chr19	37890148	37890148	C	T	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G3523A:p.V1175I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.0	B	0.0	B	0.083	N	1.000	N	-0.205	N	3.0	T	-0.991	T	0.013	T	0.03	-0.170	3.172	-1.51	-0.354	-0.154	3.191	0.005	0.0128737786154	.	.	.	.	.	.	.	.	.	.	.	.	.	rs971265866	4.501e-05	4.309e-05	5.357e-05	3.622e-05	5.19e-05	3.595e-05	3.268e-05	4.098e-05	3.683e-05	3.165e-05	2.8e-05	0	2.798e-05	0	0	5.19e-05	5.165e-05	1.262e-05	3.944e-05	3.94e-05	6.424e-05	1.346e-05	6.555e-05	1.716e-05	1.13e-05	1.972e-05	1.124e-05	2.414e-05	0	6.555e-05	0	0	0	0	5.88e-05	0	0	0.336	0.12878	T	0.405	0.14771	T	0.0	0.02946	B	0.0	0.01387	B	0.083308	0.02377	N	2.318770	1	0.08975	N	.	.	.	3.0	0.09167	T	-0.05	0.07736	N	0.023	0.00407	-0.9911	0.32321	T	0.013	0.05225	T	10	0.046782583	0.03913	T	0.012874	0.31816	T	0.005	0.00259	0.218	0.13932	0.0138822411134	0.00435	0.02113141827636059	0.02066	.	.	0.292468428612	0.09282	T	.	.	.	-0.576538	0.00202	T	-0.862333	0.00818	T	0.0218455288227424	0.00891	T	0.374563	0.08910	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.04975	B	.;.	.;.	-0.694095	0.01335	0.074	0.29793818814110068	0.01598	0.00114	0.00722	N	AEFBI	0.018512	0.00567	N	-1.50127601145156	0.01842	0.08076155	-1.54351729749168	0.02021	0.09235877	0.12766852125586	0.17024	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.57	-1.51	0.08207	0.036000	0.13706	.	.	-0.177000	0.10537	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2093:0.4051:0.0:0.3857	3.191	0.06223	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1835.98	37	chr19	37890148	.	C	T	1835.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=991;ExcessHet=0.0000;FS=0.605;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=0.186;SOR=0.758	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	20	0	1	0
chr19	37892670	37892670	G	C	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon4:c.C3033G:p.I1011M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.01	B	0.016	B	0.002	N	1.000	N	0	N	-0.15	T	-0.976	T	0.119	T	0.054	-1.252	0.050	-1.22	-0.208	-0.027	5.556	0.033	0.0352285146626	.	.	4.58e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs746697547	2.858e-06	2.736e-06	1.41e-06	4.347e-06	2.78e-06	6.7e-07	4.5e-07	7.4e-07	2.1e-07	0	0	0	0	0	0	2.78e-06	1.723e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.28271	T	0.071	0.43531	T	0.01	0.15535	B	0.016	0.17743	B	0.001750	0.00822	N	2.854230	1	0.08975	N	.	.	.	-0.15	0.65192	T	0.25	0.04456	N	0.053	0.03069	-0.9755	0.36015	T	0.119	0.41713	T	10	0.035098553	0.01743	T	0.035229	0.56205	D	0.033	0.08068	0.304	0.27325	0.0846915920261	0.08053	0.06097374764353501	0.06037	.	.	0.278730064631	0.07316	T	.	.	.	-0.289127	0.09724	T	-0.642269	0.09505	T	0.0385010502990379	0.03421	T	0.521748	0.17009	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06205	B	.;.	.;.	0.545763	0.09141	5.926	0.20938344275431103	0.00776	0.01829	0.05679	N	AEFBI	0.045843	0.07542	N	-1.2648500468362	0.04106	0.1847188	-1.26905743914984	0.04855	0.2300104	0.112683396952031	0.16690	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.27	-1.22	0.09005	-0.108000	0.10827	.	.	-0.127000	0.13314	0.004000	0.16614	0.001000	0.17328	0.008000	0.08271	0.3084:0.1903:0.5012:0.0	5.556	0.16405	646	0.63441	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4090.08	36	chr19	37892670	.	G	C	4090.08	.	AC=2;AF=0.048;AN=42;DP=871;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.46;SOR=1.085	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1165	20	1	0	0
chr19	38119673	38119673	G	A	exonic	SIPA1L3	.	nonsynonymous SNV	SIPA1L3:NM_015073:exon9:c.G2659A:p.D887N,	.	.	429	1080	12	1	0	14	0.00643974	.	.	741838	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.07	T	0.226	B	0.028	B	0.000	D	0.944	D	0.695	N	0.29	T	-0.913	T	0.122	T	0.067	2.938	15.79	4.72	1.448	3.587	13.931	0.084	.	0.0005	0.00219649	0.0019	9.817e-05	0.0003	0	0	0.0006	0.0011	0.0112	0.0016429	254	154602	rs151167786	0.0009	0.0009	0.0006	0.0012	0.0092	0.0008	0.0008	0.0087	0.0084	0.0002	0.0004	0.0008	0	1.872e-05	0.0031	0.0003	0.0010	0.0092	0.0007	0.0007	0.0005	0.0009	0.0116	0.0006	0.0005	0.0092	0.0083	0.0002	0	0.0001	0.0003	0	0	0	0.0005	0.0005	0.0116	0.087	0.32453	T	0.054	0.47097	T	0.226	0.30455	B	0.028	0.21332	B	0.000103	0.50451	D	0.182471	0.943905	0.37428	D	0.895	0.22405	L	0.29	0.58897	T	-2.42	0.53096	N	0.317	0.35727	-0.9134	0.46428	T	0.122	0.42441	T	10	0.016548306	0.00349	T	.	.	.	0.084	0.24469	.	.	0.265735104816	0.26182	0.302006772980338	0.30113	0.680600731235	0.60007	0.542522907257	0.44801	T	0.083869	0.37152	T	-0.530872	0.00379	T	-0.525942	0.19694	T	0.0598486848175526	0.07145	T	0.651635	0.26249	T	0.062326275	0.13004	0.068477765	0.14304	0.062326275	0.13004	0.068477765	0.14303	-8.534	0.64654	D	.	.	0.088	0.11797	B	.	.	2.894376	0.38345	20.7	0.997101397526441	0.81283	0.95292	0.64156	D	AEFDBI	0.349589	0.44333	N	-0.242136580307183	0.31419	1.761501	-0.0705748620055247	0.36614	2.132956	0.604217011110866	0.21751	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.75	4.72	0.59248	3.678000	0.54361	8.709000	0.78130	-0.119000	0.14319	0.969000	0.34210	1.000000	0.68203	0.866000	0.41154	0.074:0.0:0.926:0.0	13.931	0.63501	633	0.64743	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	2495.98	36	chr19	38119673	.	G	A	2495.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.90;DP=868;ExcessHet=0.0000;FS=0.587;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.70;ReadPosRankSum=0.064;SOR=0.608	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr19	38130615	38130615	G	A	exonic	SIPA1L3	.	nonsynonymous SNV	SIPA1L3:NM_015073:exon10:c.G2986A:p.A996T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	3.3	M	0.68	T	-0.036	T	0.403	T	0.922	5.523	35	5.33	2.659	9.813	18.161	0.655	0.0464206908229	.	.	1.659e-05	0	0	0.0001	0	1.513e-05	0	0	1.29e-05	2	154602	rs778892254	1.437e-05	1.436e-05	1.634e-05	1.238e-05	2.519e-05	9.24e-06	7.84e-06	9.31e-06	7.61e-06	0	2.236e-05	0	2.519e-05	0	0	1.529e-05	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.36	0.91202	M	0.68	0.51952	T	-3.75	0.71157	D	0.911	0.91276	-0.0356	0.81513	T	0.403	0.75366	T	10	0.89164686	0.88508	D	0.046421	0.62452	D	0.655	0.87035	.	.	0.447589709634	0.44379	0.855686072523831	0.85531	1.27804198574	0.82459	0.726612210274	0.71012	T	0.494895	0.81785	T	0.269504	0.80394	D	0.246202	0.85441	D	0.984099626541138	0.75523	D	0.982402	0.94055	D	0.5939542	0.72364	0.5748821	0.75373	0.5939542	0.72365	0.5748821	0.75374	-11.042	0.79888	D	.	.	0.999	0.97949	P	.	.	5.538539	0.91939	32	0.99933622954937273	0.99488	0.99759	0.99257	D	AEFDBHI	0.885590	0.81623	D	1.00155207177554	0.95791	13.96967	0.926854006633419	0.96639	14.95051	0.999999999982858	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.33	5.33	0.75683	10.003000	0.99689	11.791000	0.96374	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.463000	0.28185	0.0:0.0:1.0:0.0	18.161	0.89640	633	0.64743	PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1712.98	33	chr19	38130615	.	G	A	1712.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.420e-01;DP=819;ExcessHet=0.0000;FS=3.300;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.16;ReadPosRankSum=0.181;SOR=0.853	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1231	20	0	1	0
chr19	38320264	38320264	C	T	exonic	KCNK6	.	nonsynonymous SNV	KCNK6:NM_004823:exon1:c.C314T:p.T105I,	.	.	421	1088	13	0	0	13	0.00593878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.978	D	0.000	D	1.000	D	3.195	M	1.23	T	-0.403	T	0.263	T	0.66	4.141	21.4	3.48	2.393	4.393	12.440	0.338	.	.	0.00379393	0.0031	0.0001	0.0003	0	0	0.0003	0.0036	0.0202	0.0024967	386	154602	rs201520164	0.0014	0.0014	0.0008	0.0019	0.0197	0.0013	0.0013	0.0189	0.0186	6.024e-05	0.0007	0.0003	2.532e-05	0	0.0035	0.0001	0.0018	0.0197	0.0008	0.0008	0.0005	0.0010	0.0163	0.0006	0.0006	0.0134	0.0124	0	0	0.0015	0.0006	0	0	0.0102	0.0001	0.0005	0.0163	0.002	0.72154	D	0.002	0.79402	D	0.996	0.68779	D	0.978	0.74104	D	0.000001	0.84330	D	0.054079	0.999999	0.58761	D	2.645	0.77386	M	1.23	0.36872	T	-4.47	0.77881	D	0.82	0.81559	-0.4025	0.71948	T	0.263	0.63405	T	10	0.011172533	0.00245	T	.	.	.	0.338	0.66010	.	.	0.67526397899	0.67251	0.9613861708462629	0.96124	0.45283389639	0.44990	0.762634932995	0.76322	T	0.801009	0.94926	D	-0.281556	0.10503	T	-0.162275	0.58147	T	0.310088872909546	0.25418	T	0.874313	0.58483	D	0.88425577	0.90020	0.7882379	0.87537	0.88425577	0.90021	0.7882379	0.87537	-12.015	0.84925	D	.	.	0.969	0.89197	P	.	.	5.528987	0.91856	32	0.99838099389374102	0.91886	0.88725	0.48791	D	ALL	0.467504	0.51470	N	0.756002455077173	0.83297	7.980286	0.657682372197412	0.79184	7.02907	0.999999928797158	0.74766	0.789315	0.99827	0	0.748881	0.99253	0	0.768056	0.98339	0	0.618803	0.45993	0	.	.	4.57	3.48	0.38946	4.937000	0.63213	5.966000	0.51911	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8162:0.1838:0.0	12.440	0.54956	607	0.67291	Potassium channel domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	777.98	33	chr19	38320264	.	C	T	777.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.518e+00;DP=740;ExcessHet=0.0000;FS=10.086;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.65;ReadPosRankSum=1.34;SOR=0.145	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,973	20	0	1	0
chr19	38362267	38362267	G	C	exonic	CATSPERG	.	nonsynonymous SNV	CATSPERG:NM_001330496:exon17:c.G2032C:p.D678H	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.971	D	0.875	P	0.220	N	0.998	N	1.59	L	1.13	T	-1.020	T	0.127	T	0.463	3.197	16.70	-0.999	0.361	-0.171	2.625	0.062	0.022606607569	.	.	2.812e-05	0	0	0	0	5.151e-05	0	0	1.94e-05	3	154602	rs778867060	1.506e-05	1.505e-05	1.362e-05	1.651e-05	0.0002	9.86e-06	8.42e-06	9.32e-06	7.62e-06	0	2.238e-05	0	0	0	0.0002	1.529e-05	4.977e-05	0	6.574e-06	6.567e-06	1.285e-05	0	6.546e-05	0	0	.	.	0	0	6.546e-05	0	0	0	0	0	0	0	0.16	0.24090	T	0.181	0.29346	T	0.971	0.57185	D	0.875	0.62107	P	0.219940	0.16162	N	0.550566	1	0.22348	N	1.87	0.49600	L	1.13	0.38556	T	-1.5	0.36586	N	0.615	0.63120	-1.0204	0.23584	T	0.127	0.43421	T	10	0.23514801	0.40570	T	0.022607	0.45515	T	0.062	0.17934	0.341	0.33302	0.213573922156	0.20996	0.5404564624201001	0.53970	2.02551538596	0.94040	0.420376002789	0.27888	T	0.02877	0.20767	T	-0.261193	0.12760	T	-0.453485	0.27313	T	0.0607620105147362	0.07288	T	0.70043	0.31009	T	0.055918846	0.10932	0.04745525	0.06840	0.055918846	0.10931	0.04745525	0.06840	-3.694	0.19230	T	.	.	0.374	0.58066	A	.;.	.;.	2.002627	0.25446	16.76	0.98059599497142336	0.37936	0.06500	0.12510	N	ALL	0.092834	0.18790	N	-0.605178544570238	0.18788	0.9782331	-0.764732146120991	0.15361	0.8074878	0.999997904221317	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.519653	0.09787	0	0.618803	0.45993	0	.	.	4.61	-0.999	0.09686	-0.289000	0.08401	0.694000	0.20791	0.590000	0.31872	0.000000	0.06391	0.151000	0.23179	0.003000	0.05239	0.0968:0.1552:0.4306:0.3174	2.625	0.04628	610	0.67008	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	769.98	42	chr19	38362267	.	G	C	769.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.386;DP=780;ExcessHet=0.0000;FS=0.998;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=0.740;SOR=0.471	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1165	20	0	1	0
chr19	38384432	38384432	G	C	exonic	GGN	.	nonsynonymous SNV	GGN:NM_152657:exon4:c.C1939G:p.Q647E,	.	.	431	1024	51	2	14	69	0.0261531	.	.	716412	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.954	P	0.954	D	0.002	N	0.681	D	0.895	L	.	.	-0.479	T	0.218	T	0.517	3.518	17.97	4.59	2.369	3.533	12.796	0.126	.	.	0.00479233	0.0076	0.0004	0.0035	0	0.0029	0.0078	0.0121	0.0200	0.0069016	1067	154602	rs62123481	0.0070	0.0071	0.0065	0.0076	0.0214	0.0069	0.0069	0.0206	0.0202	0.0009	0.0034	0.0159	2.52e-05	0.0031	0.0120	0.0065	0.0070	0.0214	0.0052	0.0052	0.0053	0.0051	0.0199	0.0049	0.0048	0.0167	0.0155	0.0010	0	0.0043	0.0161	0	0.0027	0.0170	0.0071	0.0061	0.0199	0.0	0.91255	D	0.0	0.92824	D	0.954	0.54400	P	0.954	0.69447	D	0.002264	0.36887	N	0.000000	0.680832	0.33232	D	0.695	0.17993	N	.	.	.	-1.53	0.37178	N	0.35	0.39153	-0.4791	0.69399	T	0.218	0.58020	T	9	0.007388383	0.00168	T	.	.	.	0.126	0.34673	.	.	0.587148908892	0.58389	0.39254457676970256	0.39169	1.05605418879	0.76316	0.446935534477	0.31526	T	0.055877	0.30129	T	-0.308925	0.07843	T	-0.20093	0.54558	T	0.0256938633090336	0.01365	T	0.567243	0.20104	T	0.47417966	0.65546	0.49180797	0.70603	0.47417966	0.65547	0.49180797	0.70603	-3.411	0.15204	T	.	.	0.107	0.20196	B	.	.	3.883653	0.56458	23.7	0.99321719582644474	0.59431	0.85336	0.44459	D	AEFDGBHCI	0.414814	0.48392	N	0.447970816565181	0.64087	4.655645	0.43277077263354	0.63619	4.599214	0.999999999959547	0.74766	0.516213	0.21343	1	0.573116	0.20632	0	0.651303	0.49530	0	0.508809	0.08732	0	.	.	4.59	4.59	0.56297	3.652000	0.54179	9.806000	0.81721	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.678000	0.33484	0.0:0.0:1.0:0.0	12.796	0.56938	602	0.67834	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1187.98	33	chr19	38384432	.	G	C	1187.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.570e-01;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=-1.083e+00;SOR=0.688	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr19	38386669	38386669	G	A	exonic	GGN	.	nonsynonymous SNV	GGN:NM_152657:exon3:c.C593T:p.P198L,	.	.	414	1100	8	0	0	8	0.00362319	.	.	704958	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.004	B	0.01	B	0.716	N	1.000	N	0.55	N	.	.	-1.024	T	0.033	T	0.05	0.527	6.855	-1.22	-0.096	1.122	5.726	0.035	.	0.0052	0.00539137	0.0089	0.0016	0.0036	0	0.0390	0.0102	0.0090	0.0054	0.0075937	1174	154602	rs183879202	0.0090	0.0090	0.0090	0.0089	0.0091	0.0088	0.0088	0.0089	0.0089	0.0013	0.0037	0.0057	2.526e-05	0.0333	0.0035	0.0091	0.0072	0.0047	0.0077	0.0077	0.0066	0.0089	0.0082	0.0074	0.0072	0.0077	0.0074	0.0016	0	0.0057	0.0049	0	0.0390	0	0.0082	0.0085	0.0033	0.065	0.36310	T	0.007	0.69154	D	0.004	0.12183	B	0.01	0.14941	B	0.715702	0.06284	N	1.177210	1	0.08975	N	0.345	0.11182	N	.	.	.	-2.11	0.48020	N	0.178	0.19190	-1.0237	0.22508	T	0.033	0.14203	T	9	0.0032075644	0.00054	T	.	.	.	0.035	0.08770	.	.	0.166414681773	0.16258	0.04500504887436528	0.04444	0.315902796584	0.33863	0.399953871965	0.25062	T	0.111613	0.42724	T	-0.586996	0.00175	T	-0.609274	0.12043	T	0.0113653961907874	0.00169	T	0.491951	0.15143	T	0.034554396	0.03900	0.104230754	0.25027	0.034554396	0.03900	0.104230754	0.25027	-4.105	0.25364	T	.	.	0.072	0.04436	B	.	.	1.809521	0.23000	15.84	0.97092586697140892	0.32332	0.28931	0.23687	N	AEFDBCI	0.100051	0.20127	N	-0.909760190183677	0.10613	0.5079891	-0.935913749894589	0.11251	0.5720234	0.999950074988616	0.48110	0.422189	0.06491	0	0.550933	0.16991	0	0.503968	0.08637	0	0.691587	0.68394	0	.	.	3.05	-1.22	0.09005	0.709000	0.25407	0.695000	0.20799	0.672000	0.70159	0.578000	0.27570	0.640000	0.25910	0.016000	0.10718	0.1358:0.528:0.3363:0.0	5.726	0.17284	601	0.67921	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2159.98	37	chr19	38386669	.	G	A	2159.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.71;DP=894;ExcessHet=0.0000;FS=6.860;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.49;ReadPosRankSum=-3.270e-01;SOR=0.320	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1333	20	0	1	0
chr19	38408864	38408864	-	AAG	exonic	FAM98C	.	stoploss	FAM98C:NM_001351675:exon6:c.786_787insAAG:p.*268delinsK*	.	.	422	1026	48	2	24	76	0.0247148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1039.05	48	chr19	38408861	.	CAAG	C,CAAGAAG	1039.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.47;DP=834;ExcessHet=0.1072;FS=15.091;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=8.38;ReadPosRankSum=0.279;SOR=2.138	GT:AD:DP:GQ:PL	0/0:41,0,0:41:99:0,99,1485,99,1485,1485	19	0	1	0
chr19	38433850	38433850	-	GAC	exonic	RYR1	.	nonframeshift insertion	RYR1:NM_000540:exon1:c.21_22insGAC:p.D8_E9insD	Central core disease, Autosomal recessive, Autosomal dominant;King-Denborough syndrome, Autosomal dominant;Minicore myopathy with external ophthalmoplegia, Autosomal recessive;Neuromuscular disease, congenital, with uniform type 1 fiber, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	573044	RYR1-related_disorder	MedGen:CN239331	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2567.94	39	chr19	38433850	.	A	AGAC	2567.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.308;DP=910;ExcessHet=0.0000;FS=2.881;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.46;ReadPosRankSum=1.85;SOR=0.495	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	20	0	1	0
chr19	38496415	38496415	C	T	exonic	RYR1	.	nonsynonymous SNV	RYR1:NM_000540:exon41:c.C6670T:p.R2224C	Central core disease, Autosomal recessive, Autosomal dominant;King-Denborough syndrome, Autosomal dominant;Minicore myopathy with external ophthalmoplegia, Autosomal recessive;Neuromuscular disease, congenital, with uniform type 1 fiber, Autosomal recessive, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	226124	Malignant_hyperthermia,_susceptibility_to,_1|not_specified|not_provided|RYR1-related_disorder	MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600,Orphanet:423|MedGen:CN169374|MedGen:C3661900|MedGen:CN239331	reviewed_by_expert_panel	Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.999	D	0.926	D	0.000	U	0.999	D	0	N	-3.76	D	0.770	D	0.797	D	0.855	2.870	15.56	4.59	2.367	1.526	14.067	0.728	0.177865866187	.	0.000199681	0.0002	0	8.661e-05	0	0	6.049e-05	0	0.0010	0.0001552	24	154602	rs199870223	0.0002	0.0002	0.0001	0.0002	0.0011	0.0002	0.0001	0.0009	0.0008	2.987e-05	2.236e-05	0	0	0	0.0002	0.0001	8.279e-05	0.0011	9.19e-05	9.185e-05	0.0001	8.055e-05	0.0008	5.523e-05	4.361e-05	0.0003	0.0002	4.811e-05	0	0	0	0	0	0	0.0001	0.0005	0.0008	0.054	0.38633	T	.	.	.	0.999	0.77913	D	0.878	0.66095	P	0.000007	0.62929	U	0.000000	0.998995	0.45836	D	0	0.06538	N	-3.76	0.95561	D	-2.71	0.57762	D	0.866	0.86297	0.770	0.94045	D	0.797	0.93110	D	10	0.5114082	0.62118	D	0.177866	0.85318	D	0.728	0.90457	0.642	0.77903	0.981263459425	0.98105	0.7600790132381781	0.75955	1.04060265432	0.75784	0.759246170521	0.75817	T	0.829046	0.95898	D	0.0937527	0.63609	D	0.297138	0.88067	D	0.254625449383263	0.23078	T	0.974503	0.90930	D	0.21979313	0.44520	0.1410191	0.33596	0.21979313	0.44519	0.1410191	0.33595	-6.451	0.49907	T	0.14990110138184404	0.17566	0.171	0.37558	B	.;.	.;.	4.341733	0.66608	25.0	0.99849121000446905	0.92838	0.91441	0.53540	D	AEFBI	0.572004	0.57576	D	0.322533712253234	0.57306	3.897537	0.363242676711484	0.59310	4.10768	0.868912116348219	0.25375	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.59	4.59	0.56297	1.246000	0.32405	3.335000	0.37659	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.8481:0.1519:0.0	14.067	0.64357	752	0.51611	.;RIH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1175.98	38	chr19	38496415	.	C	T	1175.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.25;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=-9.630e-01;SOR=0.741	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1222	20	0	1	0
chr19	38499748	38499748	G	A	exonic	RYR1	.	nonsynonymous SNV	RYR1:NM_000540:exon44:c.G7141A:p.E2381K	Central core disease, Autosomal recessive, Autosomal dominant;King-Denborough syndrome, Autosomal dominant;Minicore myopathy with external ophthalmoplegia, Autosomal recessive;Neuromuscular disease, congenital, with uniform type 1 fiber, Autosomal recessive, Autosomal dominant	YES	0	1521	1	0	0	1	0.000328623	.	.	581529	RYR1-related_disorder|not_provided	MedGen:CN239331|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.69	T	0.102	B	0.006	B	0.000	U	0.932	D	0.885	L	-4.65	D	0.244	D	0.765	D	0.266	2.794	15.30	2.92	0.875	3.213	8.068	0.435	0.227494142767	7.7e-05	0.000199681	0.0001	0.0007	0	0	0	5.144e-05	0	0.0001	8.41e-05	13	154602	rs148426762	4.139e-05	4.309e-05	3.433e-05	4.852e-05	0.0007	3.272e-05	2.944e-05	0.0004	0.0004	0.0007	2.246e-05	0	0	0	0.0002	1.8e-05	0.0002	6.99e-05	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	0.0004	0.0004	0.0006	0	0.0001	0	0	0	0	1.471e-05	0	0	0.728	0.03834	T	.	.	.	0.102	0.25827	B	0.006	0.12133	B	0.000002	0.62929	U	0.000000	0.932385	0.37020	D	0.85	0.21244	L	-4.65	0.97938	D	-2.8	0.59226	D	0.749	0.77883	0.244	0.86638	D	0.765	0.92002	D	10	0.39508116	0.55168	T	0.227494	0.88093	D	0.435	0.74022	.	.	0.942070771296	0.94146	0.8141444801300911	0.81370	0.365579742513	0.38146	0.743567824364	0.73497	T	0.422743	0.77372	T	-0.110125	0.34749	T	-0.0970271	0.63626	T	0.0953441187739372	0.11837	T	0.951205	0.81406	D	0.22637177	0.45316	0.17319271	0.39629	0.22637177	0.45316	0.17319271	0.39628	-13.059	0.89854	D	0.11371059718645415	0.09982	0.116	0.23219	B	.;.	.;.	3.596980	0.50782	23.0	0.99682788608189787	0.79373	0.94328	0.60816	D	AEFDBI	0.589599	0.58642	D	-0.44363738696188	0.23957	1.290154	-0.299190808049236	0.28125	1.565719	0.118506417735055	0.16825	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	3.95	2.92	0.32998	2.924000	0.48572	7.504000	0.59526	-0.185000	0.09859	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0929:0.1609:0.7461:0.0	8.068	0.29833	754	0.51307	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	888.98	35	chr19	38499748	.	G	A	888.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.600;DP=1032;ExcessHet=0.0000;FS=3.208;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=0.896;SOR=0.984	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1452	20	0	1	0
chr19	38505358	38505358	C	G	exonic	RYR1	.	nonsynonymous SNV	RYR1:NM_000540:exon53:c.C8360G:p.T2787S	Central core disease, Autosomal recessive, Autosomal dominant;King-Denborough syndrome, Autosomal dominant;Minicore myopathy with external ophthalmoplegia, Autosomal recessive;Neuromuscular disease, congenital, with uniform type 1 fiber, Autosomal recessive, Autosomal dominant	.	1	1518	3	0	0	3	0.000987167	.	.	38459	Central_core_myopathy|King_Denborough_syndrome|Congenital_multicore_myopathy_with_external_ophthalmoplegia|Congenital_myopathy_with_fiber_type_disproportion|Malignant_hyperthermia,_susceptibility_to,_1|Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber|Malignant_hyperthermia_of_anesthesia|Malignant_hypothermia|RYR1-related_disorder|not_provided|not_specified	MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:597|MONDO:MONDO:0020485,MedGen:C1840365,OMIM:619542|Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:598,Orphanet:98905|MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600,Orphanet:423|MedGen:C2674259|Human_Phenotype_Ontology:HP:0034733,MONDO:MONDO:0018493,MedGen:C0024591,Orphanet:423|MedGen:CN234658|MedGen:CN239331|MedGen:C3661900|MedGen:CN169374	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.11	T	0.009	B	0.01	B	0.000	U	0.994	D	2.21	M	-2.87	D	-0.072	T	0.345	T	0.243	1.957	12.50	4.14	2.303	6.872	15.689	0.466	.	0.0102	0.00898562	0.0033	0.0331	0.0018	0	0	0.0007	0.0026	0	0.0030013	464	154602	rs35180584	0.0013	0.0013	0.0014	0.0012	0.0304	0.0012	0.0012	0.0288	0.0282	0.0304	0.0029	0.0100	0	0	0.0029	0.0003	0.0029	0.0002	0.0088	0.0088	0.0092	0.0083	0.0290	0.0084	0.0082	0.0276	0.0271	0.0290	0	0.0028	0.0115	0	0	0	0.0004	0.0071	0.0002	0.119	0.28646	T	.	.	.	0.007	0.15093	B	0.006	0.14941	B	0.000091	0.51296	U	0.074144	0.994085	0.42155	D	1.72	0.44442	L	-2.87	0.91478	D	-2.73	0.58085	D	0.618	0.63374	-0.0716	0.80744	T	0.345	0.71044	T	10	0.0125312805	0.00269	T	.	.	.	0.466	0.76156	0.775	0.90080	0.972265303554	0.97196	0.30988693071817347	0.30901	0.274529818045	0.29946	0.772753179073	0.77837	T	0.661952	0.89867	D	-0.293839	0.09254	T	-0.171859	0.57273	T	0.0230522488556676	0.01030	T	0.816518	0.47234	T	0.33775392	0.56099	0.30024907	0.56058	0.35601524	0.57531	0.31169978	0.57174	-7.437	0.57364	T	0.17540563854969868	0.22327	0.180	0.39203	B	.;.	.;.	2.848362	0.37596	20.5	0.89959655269947802	0.19255	0.98310	0.81501	D	AEFDBI	0.832336	0.75073	D	0.0769611459066201	0.45389	2.796321	0.181666424341523	0.48843	3.094889	0.999999960879998	0.74766	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.14	4.14	0.47821	5.603000	0.67304	7.613000	0.61989	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:1.0:0.0:0.0	15.689	0.77194	757	0.50970	.;Ryanodine receptor Ryr	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1392.98	41	chr19	38505358	.	C	G	1392.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.21;DP=1778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=1.70;SOR=0.713	GT:AD:DP:GQ:PL	0/0:104,0:104:99:0,120,1800	20	0	1	0
chr19	38565212	38565212	C	T	exonic	RYR1	.	nonsynonymous SNV	RYR1:NM_001042723:exon90:c.C12863T:p.A4288V	Central core disease, Autosomal recessive, Autosomal dominant;King-Denborough syndrome, Autosomal dominant;Minicore myopathy with external ophthalmoplegia, Autosomal recessive;Neuromuscular disease, congenital, with uniform type 1 fiber, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	648059	RYR1-related_disorder|Malignant_hyperthermia,_susceptibility_to,_1|King_Denborough_syndrome|Congenital_myopathy_with_fiber_type_disproportion|Central_core_myopathy|Congenital_multicore_myopathy_with_external_ophthalmoplegia|not_specified	MedGen:CN239331|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600,Orphanet:423|MONDO:MONDO:0020485,MedGen:C1840365,OMIM:619542|MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:597|Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:598,Orphanet:98905|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.47	T	0.0	B	0.001	B	0.000	N	1.000	N	2.19	M	-4.07	D	-0.093	T	0.771	D	0.117	1.485	10.91	-0.935	-0.057	-2.291	6.872	0.281	0.990749129663	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1223090052	1.769e-05	3.147e-05	2.42e-05	1.017e-05	0.0015	1.062e-05	8.42e-06	0.0006	0.0004	6.239e-05	0	0	0.0015	0.0005	0	6.479e-06	7.114e-05	0	5.462e-05	5.349e-05	5.32e-05	5.612e-05	0.0014	2.645e-05	1.894e-05	0.0006	0.0005	2.445e-05	0	0	0	0.0014	0	0	0	0	0	0.533	0.06957	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	0.000140	0.49741	N	0.077474	1	0.08975	N	-0.09	0.04745	N	-4.08	0.96594	D	-0.91	0.24460	N	0.047	0.17828	-0.0927	0.80266	T	0.771	0.92209	D	10	0.15024236	0.28420	T	0.990749	0.99967	D	0.281	0.59861	0.389	0.41115	0.788161380564	0.78619	0.2106082519949478	0.20976	0.734598784777	0.62906	0.870956897736	0.92704	D	0.366216	0.73150	T	-0.0850006	0.38900	T	-0.359874	0.38068	T	0.284760177135468	0.24371	T	0.435056	0.11905	T	0.033878036	0.03695	0.055687394	0.09815	0.033878036	0.03695	0.055687394	0.09814	-4.782	0.34380	T	0.1621786183022456	0.19904	0.081	0.08176	B	.;.	.;.	-0.015825	0.04173	1.008	0.94492956262519823	0.24960	0.00557	0.02543	N	AEFDBCI	0.019392	0.00668	N	-1.1295232232616	0.06123	0.2810426	-1.25612398105796	0.05041	0.2392629	0.996939550303935	0.35130	0.59774	0.34471	0	0.475579	0.06741	0	0.550215	0.18615	0	0.63947	0.58350	0	.	.	2.88	-0.935	0.09893	-0.984000	0.03865	-0.887000	0.07042	-0.509000	0.05002	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.3929:0.0:0.6071	6.872	0.23307	659	0.61982	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	478.99	12	chr19	38565212	.	C	T	478.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.69;DP=478;ExcessHet=0.0000;FS=9.259;InbreedingCoeff=-0.0255;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=-6.170e-01;SOR=3.142	GT:AD:DP:GQ:PL	0/1:20,15:35:99:493,0,505	20	0	1	0
chr19	38572121	38572121	G	A	exonic	RYR1	.	nonsynonymous SNV	RYR1:NM_001042723:exon94:c.G13834A:p.G4612R	Central core disease, Autosomal recessive, Autosomal dominant;King-Denborough syndrome, Autosomal dominant;Minicore myopathy with external ophthalmoplegia, Autosomal recessive;Neuromuscular disease, congenital, with uniform type 1 fiber, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	469795	not_provided|Malignant_hyperthermia,_susceptibility_to,_1|RYR1-related_disorder	MedGen:C3661900|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600,Orphanet:423|MedGen:CN239331	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.39	T	0.848	P	0.551	P	0.000	U	0.977	D	0.55	N	-3.32	D	0.213	D	0.663	D	0.385	2.474	14.23	4.71	1.413	4.550	12.398	0.433	0.205466658242	7.7e-05	0.000399361	0.0001	0	0.0008	0.0003	0	5.994e-05	0	0	0.0001423	22	154602	rs202226983	8.072e-05	8.072e-05	9.801e-05	6.325e-05	0.0006	6.868e-05	6.42e-05	0.0004	0.0004	2.987e-05	0.0006	0	0.0001	0	0.0002	6.835e-05	0.0001	0	9.231e-05	9.201e-05	0.0001	8.092e-05	0.0004	5.546e-05	4.379e-05	0.0002	0.0001	2.42e-05	0	0.0004	0	0.0004	0	0	5.894e-05	0.0005	0	0.09	0.33254	T	.	.	.	0.816	0.46844	P	0.415	0.49270	B	0.000247	0.46924	U	0.082778	0.977175	0.39342	D	1.69	0.43327	L	-3.32	0.93882	D	-2.13	0.48354	N	0.404	0.54584	0.213	0.86127	D	0.663	0.88314	D	10	0.083593965	0.13923	T	0.205467	0.86986	D	0.433	0.73879	0.537	0.64730	0.962648570882	0.96225	0.6018000725072506	0.60111	0.68430610145	0.60211	0.619278967381	0.55628	T	0.818986	0.95554	D	-0.125622	0.32207	T	-0.0506306	0.66979	D	0.0774241991141527	0.09654	T	0.824917	0.48720	T	0.17023356	0.37586	0.18801123	0.42067	0.17023356	0.37585	0.18801123	0.42066	-7.652	0.58673	D	0.12060027632495175	0.11357	0.166	0.36495	B	.;.	.;.	3.118975	0.42097	21.5	0.88757374159874491	0.18231	0.97126	0.72841	D	AEFDBHI	0.534310	0.55340	D	0.0373460432100961	0.43562	2.646635	0.0868434250540627	0.43884	2.681126	0.999956545837159	0.48110	0.706298	0.61202	0	0.61073	0.52368	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.76	4.71	0.59010	5.111000	0.64468	2.896000	0.35420	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	0.992000	0.67800	0.08:0.0:0.92:0.0	12.398	0.54730	650	0.62973	.;Ryanodine Receptor TM 4-6	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1673.98	33	chr19	38572121	.	G	A	1673.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.34;DP=824;ExcessHet=0.0000;FS=0.681;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.07;ReadPosRankSum=-8.010e-01;SOR=0.773	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1293	20	0	1	0
chr19	38608126	38608126	G	A	exonic	MAP4K1	.	nonsynonymous SNV	MAP4K1:NM_001042600:exon14:c.C1051T:p.P351S	.	.	428	1090	2	1	1	5	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.06	B	0.014	B	0.311	N	1.000	N	0.805	L	3.03	T	-1.043	T	0.088	T	0.093	0.948	8.867	0.56	0.431	0.816	5.856	0.015	.	0.0006	0.0119808	0.0046	0.0001	0.0005	0.0243	0	0.0004	0.0053	0.0280	0.0043402	671	154602	rs34591617	0.0021	0.0022	0.0015	0.0028	0.0245	0.0021	0.0021	0.0235	0.0231	9.729e-05	0.0006	0.0026	0.0181	3.958e-05	0.0024	0.0002	0.0037	0.0245	0.0022	0.0022	0.0015	0.0029	0.0314	0.0020	0.0019	0.0273	0.0258	0.0001	0	0.0006	0.0017	0.0266	0	0	0.0003	0.0033	0.0314	0.408	0.10212	T	0.183	0.29153	T	0.007	0.14184	B	0.007	0.12992	B	0.311304	0.14429	N	0.627285	0.999999	0.08975	N	2.275	0.64647	M	-0.65	0.72237	T	-0.3	0.11913	N	0.189	0.26717	-1.0434	0.16294	T	0.088	0.33885	T	10	0.0031814575	0.00053	T	.	.	.	0.015	0.02232	.	.	0.654180182034	0.65129	0.30782206049764166	0.30695	0.210683858488	0.23564	0.338318169117	0.16186	T	0.124747	0.44998	T	-0.493896	0.00619	T	-0.461274	0.26460	T	0.004524192700593	0.00048	T	.	.	.	0.062201332	0.12966	0.040151756	0.04273	0.062201332	0.12966	0.040151756	0.04272	-3.66	0.19230	T	.	.	0.084	0.09627	B	.;.;.	.;.;.	1.325273	0.17300	13.08	0.89424247568730864	0.18785	0.25054	0.22583	N	AEFDBI	0.041503	0.06318	N	-0.721291328021777	0.15424	0.777187	-0.688999931785291	0.17235	0.9155275	0.0317678580050323	0.14019	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.620846	0.47308	0	.	.	3.94	0.56	0.16465	0.842000	0.27280	0.450000	0.18513	0.672000	0.70159	0.971000	0.34370	0.980000	0.30356	0.116000	0.19000	0.3445:0.0:0.6555:0.0	5.856	0.17966	625	0.65529	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1188.98	35	chr19	38608126	.	G	A	1188.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.720e-01;DP=795;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=0.359;SOR=0.674	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1271	20	0	1	0
chr19	38736233	38736233	-	GGCGGGCGCTGAGGGGCG	exonic	CAPN12	.	nonframeshift insertion	CAPN12:NM_144691:exon12:c.1459_1460insCGCCCCTCAGCGCCCGCC:p.R486_R487insPPLSAR,	.	.	423	1094	3	0	2	5	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0048	0	0	0	.	0	0.0096	0.0069	3.84e-05	1	26028	rs766614584	0.0005	0.0006	0.0004	0.0007	0.0068	0.0005	0.0005	0.0063	0.0061	0.0001	0	0.0005	3.221e-05	0	0.0021	0.0001	0.0006	0.0068	0.0005	0.0005	0.0004	0.0007	0.0120	0.0004	0.0004	0.0095	0.0086	2.435e-05	0	6.591e-05	0.0006	0	0	0	0.0003	0	0.0120	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	438.94	33	chr19	38736233	.	C	CGGCGGGCGCTGAGGGGCG	438.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.011e+00;DP=743;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=-2.826e+00;SOR=0.883	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1011	20	0	1	0
chr19	38737256	38737256	G	A	exonic	CAPN12	.	nonsynonymous SNV	CAPN12:NM_144691:exon10:c.C1262T:p.T421M,	.	.	413	1108	1	0	0	1	0.00045106	.	.	2246680	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.806	P	0.227	B	0.013	N	1.000	N	0	N	-2.24	D	-0.533	T	0.327	T	0.058	0.957	8.903	-5.93	-1.073	-1.549	6.461	0.327	0.360856456381	0.0002	0.000199681	0.0001	0.0005	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs376929093	8.577e-06	9.577e-06	8.464e-06	8.693e-06	0.0002	4.57e-06	3.61e-06	6.092e-05	3.919e-05	0.0002	0	0	0	0	0.0002	2.777e-06	1.727e-05	2.52e-05	4.666e-05	4.616e-05	3.909e-05	5.459e-05	0.0002	2.137e-05	1.545e-05	8.025e-05	5.673e-05	0.0002	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.096	0.40267	T	0.806	0.45231	P	0.227	0.38084	B	0.013433	0.01364	N	2.678450	1	0.08975	N	1.67	0.42885	L	-2.2	0.87194	D	-0.65	0.18877	N	0.121	0.11483	-0.5335	0.67409	T	0.327	0.69564	T	10	0.07877579	0.12596	T	0.360856	0.92508	D	0.327	0.64926	.	.	0.396345573744	0.39253	0.336295712363632	0.33542	0.0648110899502	0.07235	0.755609035492	0.75276	T	0.174496	0.52374	T	-0.154453	0.27618	T	-0.459637	0.26638	T	0.36140775680542	0.27464	T	0.440756	0.12177	T	0.10643239	0.25167	0.11863127	0.28635	0.10643239	0.25167	0.11863127	0.28635	-5.685	0.43560	T	.	.	0.075	0.07083	B	.;.	.;.	0.039735	0.04562	1.247	0.98274407680559683	0.39796	0.01727	0.05464	N	AEFBHCIJ	0.058943	0.11096	N	-1.36787088704918	0.02944	0.1307692	-1.54094189035142	0.02039	0.09320036	0.999999999634944	0.74766	0.764865	0.99124	0	0.552344	0.17405	0	0.731555	0.93304	0	0.562822	0.20929	0	.	.	3.48	-5.93	0.02067	-1.520000	0.02345	-0.820000	0.07299	-0.971000	0.01942	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.2034:0.3119:0.4847:0.0	6.461	0.21156	675	0.60470	Peptidase C2, calpain, large subunit, domain III|Peptidase C2, calpain, domain III|Calpain subdomain III;Peptidase C2, calpain, large subunit, domain III|Peptidase C2, calpain, domain III|Calpain subdomain III	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2220.98	34	chr19	38737256	.	G	A	2220.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.692;DP=874;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.86;ReadPosRankSum=0.440;SOR=0.702	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1204	20	0	1	0
chr19	38737601	38737601	C	T	exonic	CAPN12	.	nonsynonymous SNV	CAPN12:NM_144691:exon9:c.G1003A:p.V335M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.981	D	0.73	P	0.016	N	0.999	N	1.39	L	-2.5	D	-0.269	T	0.588	D	0.306	2.284	13.59	1.71	0.397	-0.130	3.768	0.339	0.194547653626	7.7e-05	.	6.55e-05	0	0	0	0	1.689e-05	0	0.0004	5.17e-05	8	154602	rs374179618	2.4e-05	2.394e-05	1.91e-05	2.895e-05	0.0002	1.743e-05	1.542e-05	5.408e-05	4.051e-05	2.989e-05	0	0	2.523e-05	0	0.0002	2.07e-05	0	0.0001	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.004	0.74150	D	0.981	0.59675	D	0.73	0.55268	P	0.016209	0.28038	N	0.321849	0.99873	0.21949	N	1.445	0.36358	L	-2.5	0.89219	D	-0.28	0.11547	N	0.363	0.40465	-0.2689	0.75841	T	0.588	0.85242	D	10	0.18086585	0.33291	T	0.194548	0.86369	D	0.339	0.66106	.	.	0.442567846599	0.43878	0.2823802808921967	0.28151	0.32633439464	0.34783	0.608804345131	0.54146	T	0.063482	0.32186	T	-0.186606	0.22756	T	-0.226388	0.52119	T	0.311744451522827	0.25486	T	0.770723	0.40088	T	0.17920516	0.38980	0.17901447	0.40608	0.17920516	0.38980	0.17901447	0.40607	-6.344	0.49071	T	.	.	0.289	0.52688	B	.;.	.;.	3.286245	0.45050	22.1	0.99479065182231541	0.66795	0.08035	0.14011	N	AEFDBHCI	0.093430	0.18904	N	-0.159978768284743	0.34812	1.991822	-0.302694116851332	0.28012	1.558529	0.999956986528278	0.48110	0.582742	0.33608	0	0.541556	0.11502	0	0.61531	0.40942	0	0.562822	0.20929	0	.	.	3.9	1.71	0.23429	-0.038000	0.12096	-0.009000	0.13087	0.511000	0.23309	0.000000	0.06391	0.001000	0.17328	0.963000	0.52385	0.0:0.5559:0.204:0.2402	3.768	0.08154	675	0.60470	Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1193.98	34	chr19	38737601	.	C	T	1193.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.880e-01;DP=846;ExcessHet=0.0000;FS=2.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=0.844;SOR=1.054	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1204	20	0	1	0
chr19	38815889	38815889	C	T	exonic	ECH1	.	nonsynonymous SNV	ECH1:NM_001398:exon9:c.G850A:p.D284N,	.	.	426	1062	32	2	0	36	0.0166667	.	.	549788	not_provided	MedGen:C3661900	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.06	T	0.58	P	0.232	B	0.001	N	0.996	D	1.61	L	-0.34	T	-1.097	T	0.016	T	0.023	2.492	14.29	1.52	0.230	2.665	8.821	0.184	.	0.0007	0.0439297	0.0217	0.0015	0.0138	0.1011	0.0108	0.0010	0.0111	0.0872	0.0196634	3040	154602	rs58750431	0.0088	0.0088	0.0069	0.0108	0.0926	0.0087	0.0087	0.0902	0.0891	0.0005	0.0126	0.0042	0.0926	0.0111	0.0066	0.0003	0.0128	0.0790	0.0086	0.0086	0.0065	0.0109	0.1036	0.0082	0.0081	0.0963	0.0934	0.0008	0	0.0086	0.0026	0.1036	0.0105	0	0.0006	0.0080	0.0901	0.052	0.39097	T	0.043	0.49942	D	0.58	0.38813	P	0.232	0.38314	B	0.000557	0.43413	N	0.224693	0.995888	0.42905	D	1.96	0.53105	M	-0.34	0.68474	T	-3.92	0.73151	D	0.127	0.12055	-1.0969	0.04487	T	0.016	0.06425	T	10	0.003258437	0.00056	T	.	.	.	0.184	0.45763	.	.	.	.	0.5948108593860878	0.59411	0.210675352167	0.23564	.	.	.	0.126685	0.45322	T	-0.608825	0.00129	T	-0.560458	0.16333	T	0.0442205592395221	0.04461	T	.	.	.	0.0875064	0.20380	0.08958698	0.20957	0.0875064	0.20379	0.08958698	0.20957	-7.382	0.56778	T	.	.	0.113	0.22464	B	.	.	1.427526	0.18454	13.74	0.99155882767163839	0.53959	0.76974	0.37797	D	AEFDBHCI	0.564811	0.57144	D	-0.363951650050263	0.26763	1.463097	-0.386532372428914	0.25398	1.396471	0.934234573778894	0.27162	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.85	1.52	0.22158	2.858000	0.48055	-0.124000	0.11690	-0.260000	0.06918	0.990000	0.36992	0.000000	0.08366	0.009000	0.08673	0.0:0.7388:0.0:0.2612	8.821	0.34186	583	0.69484	.	.	.	.	.	rs58750431	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	5404.66	35	chr19	38815889	.	C	T	5404.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.670e-01;DP=954;ExcessHet=0.0000;FS=2.851;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=22.90;ReadPosRankSum=-9.660e-01;SOR=0.504	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1310	19	1	1	0
chr19	38889130	38889130	C	T	exonic	SIRT2	.	nonsynonymous SNV	SIRT2:NM_001193286:exon7:c.G347A:p.R116H	.	.	420	1090	12	0	0	12	0.00547445	.	.	716421	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.04	D	0.991	D	0.641	P	0.000	D	1.000	D	2.515	M	2.23	T	-1.063	T	0.063	T	0.469	3.640	18.51	5.01	2.630	3.026	15.409	0.231	.	0.0080	0.00279553	0.0097	0.0019	0.0029	0	0.0073	0.0157	0.0078	0.0015	0.0096506	1492	154602	rs144373891	0.0093	0.0093	0.0094	0.0091	0.0165	0.0091	0.0091	0.0138	0.0128	0.0018	0.0042	0.0245	2.519e-05	0.0072	0.0165	0.0104	0.0087	0.0014	0.0076	0.0076	0.0080	0.0073	0.0114	0.0073	0.0071	0.0108	0.0105	0.0019	0.0011	0.0065	0.0288	0.0004	0.0073	0.0170	0.0114	0.0080	0.0006	0.036	0.44358	D	0.045	0.49390	D	0.981	0.64070	D	0.641	0.52117	P	0.000325	0.45700	D	0.186557	0.999967	0.52935	D	1.855	0.49169	L	2.23	0.18083	T	-3.78	0.75297	D	0.569	0.59563	-1.0627	0.11093	T	0.063	0.26244	T	10	0.009638488	0.00217	T	.	.	.	0.231	0.53208	.	.	0.454331543959	0.45056	0.7854906067360795	0.78500	0.906898043422	0.70876	0.504186451435	0.39411	T	0.401276	0.75862	T	-0.439825	0.01296	T	-0.39223	0.34291	T	0.0353887764454328	0.02875	T	.	.	.	0.749164	0.80820	0.48666897	0.70291	0.749164	0.80821	0.48666897	0.70292	-12.161	0.86155	D	.	.	0.203	0.45111	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.454469	0.91089	32	0.9991829050291885	0.98586	0.84346	0.43428	D	AEFDBI	0.340196	0.43709	N	0.458498583691265	0.64688	4.728902	0.471408624646011	0.66103	4.908672	0.999802284566782	0.43304	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	3.699000	0.54511	7.540000	0.60069	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:1.0:0.0:0.0	15.409	0.74622	636	0.64483	Sirtuin family, catalytic core domain;Sirtuin family, catalytic core domain;Sirtuin family, catalytic core domain;Sirtuin family, catalytic core domain;Sirtuin family, catalytic core domain;Sirtuin family, catalytic core domain;Sirtuin family, catalytic core domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1902.98	33	chr19	38889130	.	C	T	1902.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.326;DP=848;ExcessHet=0.0000;FS=2.922;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.86;ReadPosRankSum=-2.518e+00;SOR=0.766	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1240	20	0	1	0
chr19	38907308	38907308	C	T	exonic	NFKBIB	.	nonsynonymous SNV	NFKBIB:NM_001243116:exon4:c.C449T:p.P150L	.	.	422	1099	1	0	0	1	0.000454752	0.0001	0.006	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.169	B	0.033	B	0.035	N	1.000	D	0.86	L	0.8	T	-1.044	T	0.094	T	0.325	0.988	9.033	1.52	0.255	0.093	7.851	0.023	0.0389821229704	.	0.000798722	9.148e-05	9.673e-05	0.0002	0.0002	0	9.073e-05	0	0	9.7e-05	15	154602	rs528161401	3.698e-05	3.762e-05	3.814e-05	3.58e-05	0.0012	2.897e-05	2.595e-05	0.0006	0.0004	2.988e-05	4.476e-05	3.828e-05	7.568e-05	0	0.0012	2.61e-05	9.945e-05	5.801e-05	7.221e-05	7.217e-05	7.707e-05	6.713e-05	0.0006	3.967e-05	3.125e-05	0.0002	8.384e-05	4.811e-05	0	0	0	0.0006	0	0	7.35e-05	0	0.0002	0.153	0.24372	T	0.164	0.36365	T	0.169	0.28678	B	0.033	0.22329	B	0.034720	0.24735	N	0.291335	0.999604	0.47795	D	0.86	0.21358	L	0.82	0.55439	T	-2.22	0.49846	N	0.329	0.37093	-1.0436	0.16236	T	0.094	0.35604	T	10	0.02847004	0.00979	T	0.038982	0.58547	D	0.023	0.04649	0.42	0.46200	0.55025283692	0.54683	0.2768409786765722	0.27597	0.330562522634	0.35134	0.441002309322	0.30714	T	0.007778	0.49600	T	-0.314082	0.07393	T	-0.424505	0.30559	T	0.0335048583915512	0.02554	T	.	.	.	0.028659584	0.02237	0.045611717	0.06176	0.028659584	0.02237	0.045611717	0.06175	-8.016	0.61254	D	.	.	0.112	0.23395	B	.;.;.;.	.;.;.;.	1.968811	0.25009	16.61	0.89211688632765074	0.18604	0.65890	0.32890	D	AEFDBI	0.119364	0.23299	N	-0.625129628258198	0.18192	0.9424935	-0.548505541183883	0.20846	1.124985	0.478585567799603	0.20766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.75	1.52	0.22158	0.093000	0.14925	1.726000	0.28294	-0.187000	0.09635	0.783000	0.29509	0.967000	0.29559	0.480000	0.28565	0.0:0.7368:0.0:0.2632	7.851	0.28618	645	0.63593	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1515.98	33	chr19	38907308	.	C	T	1515.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=817;ExcessHet=0.0000;FS=6.532;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=0.944;SOR=0.911	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1154	20	0	1	0
chr19	38911045	38911045	C	T	exonic	CCER2	.	nonsynonymous SNV	CCER2:NM_001243212:exon4:c.G229A:p.E77K,	.	.	422	1097	3	0	0	3	0.0013655	.	.	2908936	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061901	0.0046	0.1	0	0	0	0	.	0	0.0003622	56	154602	rs76594356	0.0005	0.0005	0.0006	0.0005	0.0194	0.0005	0.0005	0.0181	0.0176	0.0194	0.0005	0	0.0001	6.525e-05	0.0004	2.195e-05	0.0009	0.0004	0.0045	0.0045	0.0048	0.0043	0.0158	0.0043	0.0041	0.0148	0.0144	0.0158	0	0.0011	0	0	0	0	8.819e-05	0.0033	0.0006	.	.	.	0.09	0.40267	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.695	0.17993	N	.	.	.	.	.	.	0.153	0.15749	.	.	.	.	.	.	.	0.0030425787	0.00050	T	.	.	.	.	.	.	.	0.191931220699	0.18833	0.028666652913993583	0.02816	0.0196899890321	0.01931	.	.	.	0.055142	0.29924	T	-0.630779	0.00095	T	-0.663251	0.08048	T	.	.	.	.	.	.	0.022388231	0.00899	0.06007532	0.11381	0.022388231	0.00899	0.06007532	0.11381	-4.429	0.29948	T	.	.	0.070	0.03301	B	.	.	0.288304	0.06649	3.146	0.98824000113660249	0.46836	0.02618	0.07200	N	AEFBI	0.119853	0.23373	N	.	.	.	.	.	.	0.00235059025720876	0.09341	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.94	0.195	0.14431	-0.084000	0.11233	-0.708000	0.07763	-0.172000	0.11096	0.000000	0.06391	0.000000	0.08366	0.044000	0.14658	0.0:0.5863:0.149:0.2647	5.116	0.14168	649	0.63102	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	786.98	34	chr19	38911045	.	C	T	786.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.824;DP=766;ExcessHet=0.0000;FS=3.769;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=-5.850e-01;SOR=1.292	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1466	20	0	1	0
chr19	38915624	38915624	-	CCAGGCAGC	exonic	SARS2	.	nonframeshift insertion	SARS2:NM_017827:exon16:c.1538_1539insGCTGCCTGG:p.G513_Q514insLPG	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, Autosomal recessive	.	1	1493	28	0	0	28	0.00928998	.	.	211871	not_provided|SARS2-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.00259585	0.0023	0.0004	0.0012	0	0.0014	0.0018	0.0022	0.0081	0.0015368	40	26028	rs551671819	0.0023	0.0023	0.0022	0.0024	0.0077	0.0023	0.0022	0.0072	0.0070	0.0004	0.0013	0.0016	2.519e-05	0.0021	0.0057	0.0021	0.0026	0.0077	0.0015	0.0016	0.0012	0.0019	0.0071	0.0014	0.0013	0.0052	0.0045	9.624e-05	0	0.0008	0.0023	0	0.0025	0.0068	0.0022	0	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2472.94	37	chr19	38915624	.	G	GCCAGGCAGC	2472.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.170e-01;DP=1637;ExcessHet=0.0000;FS=2.488;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.08;ReadPosRankSum=-2.320e-01;SOR=0.449	GT:AD:DP:GQ:PL	0/0:60,0:60:99:0,120,1800	20	0	1	0
chr19	38921639	38921639	C	T	exonic	SARS2	.	nonsynonymous SNV	SARS2:NM_017827:exon4:c.G422A:p.R141H,	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	2730609	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.12	T	0.012	B	0.001	B	0.008	N	.	.	1.1	L	0.89	T	-1.060	T	0.066	T	0.104	1.119	9.563	-1.31	-0.009	-1.379	7.330	0.028	0.0051382172283	.	.	5.866e-05	9.837e-05	0	0	0	3.047e-05	0	0.0002	4.53e-05	7	154602	rs779303412	5.746e-05	5.746e-05	5.989e-05	5.5e-05	0.0007	4.743e-05	4.366e-05	0.0002	0.0001	8.961e-05	4.472e-05	0	0	0	0.0007	4.496e-05	0.0002	0.0002	1.97e-05	1.97e-05	3.853e-05	0	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.411e-05	0	0	0	0	0	0	2.94e-05	0	0	0.165	0.23271	T	0.182	0.30339	T	0.007	0.14184	B	0.001	0.04355	B	0.008275	0.30928	N	0.333921	.	.	.	1.355	0.33814	L	0.89	0.45636	T	-1.25	0.31576	N	0.172	0.18376	-1.0599	0.11781	T	0.066	0.27052	T	9	0.064609885	0.08593	T	0.005138	0.13063	T	0.028	0.06331	0.478	0.55663	0.276065633971	0.27208	.	.	.	.	.	.	.	0.103481	0.41217	T	-0.523334	0.00421	T	-0.697361	0.05971	T	0.0336798785994503	0.02585	T	.	.	.	0.033927903	0.03710	0.034381066	0.02495	0.033927903	0.03710	0.034381066	0.02494	-7.086	0.54659	T	.	.	0.081	0.08272	B	.;.	.;.	0.737677	0.11073	7.721	0.98931284464465108	0.48750	0.05863	0.11809	N	AEFDBCI	0.061574	0.11782	N	-0.98227580421725	0.08982	0.4232724	-1.02992366348367	0.09131	0.4525707	0.941094238286629	0.27461	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.57	-1.31	0.08749	-1.629000	0.02132	-3.885000	0.02474	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.562000	0.30459	0.0:0.4555:0.0:0.5445	7.330	0.25751	668	0.61153	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	348.98	33	chr19	38921639	.	C	T	348.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.15;DP=740;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.31;ReadPosRankSum=-2.416e+00;SOR=0.813	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr19	38930489	38930489	G	A	exonic	SARS2	.	nonsynonymous SNV	SARS2:NM_001145901:exon1:c.C248T:p.S83L	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, Autosomal recessive	.	0	1451	68	3	0	74	0.0248656	.	.	142664	Hyperuricemia,_pulmonary_hypertension,_renal_failure,_alkalosis_syndrome|not_provided|not_specified	MONDO:MONDO:0013458,MedGen:C3151209,OMIM:613845,Orphanet:363694|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.09	T	0.642	P	0.113	B	0.015	N	.	.	1.61	L	1.49	T	-0.751	T	0.096	T	0.279	1.070	9.370	5.51	2.873	2.309	14.793	0.096	.	0.0064	0.0091853	0.0100	0.0020	0.0067	0.0001	0.0046	0.0090	0.0153	0.0273	0.0093725	1449	154602	rs34050897	0.0096	0.0096	0.0091	0.0102	0.0259	0.0095	0.0095	0.0250	0.0246	0.0020	0.0069	0.0027	0.0001	0.0044	0.0141	0.0094	0.0097	0.0259	0.0066	0.0066	0.0066	0.0066	0.0259	0.0063	0.0061	0.0222	0.0208	0.0018	0	0.0059	0.0026	0.0004	0.0030	0.0136	0.0095	0.0099	0.0259	0.327	0.13262	T	0.312	0.19660	T	0.077	0.24313	B	0.004	0.10090	B	0.014799	0.28429	N	0.367956	.	.	.	0.345	0.11182	N	0.49	0.55775	T	-1.17	0.31375	N	0.179	0.29544	-0.7507	0.57899	T	0.096	0.36263	T	9	0.003596574	0.00065	T	.	.	.	0.096	0.27654	.	.	0.701561391093	0.69897	0.2950527999363668	0.29418	0.273909488683	0.29889	0.44043302536	0.30635	T	0.072744	0.34529	T	-0.482439	0.00716	T	-0.44617	0.28119	T	0.0226525112198306	0.00983	T	.	.	.	0.10467068	0.24745	0.14380763	0.34163	0.10447656	0.24699	0.14380763	0.34162	-4.243	0.31805	T	.	.	0.085	0.12750	B	.;.;.	.;.;.	2.975981	0.39681	21.0	0.9621310437656867	0.29063	0.26748	0.23082	N	ALL	0.164522	0.29092	N	-0.237899072677068	0.31589	1.77281	-0.233137074387494	0.30356	1.708518	1.0	0.98316	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.241949	0.04745	2	.	.	5.51	5.51	0.81769	2.031000	0.40737	11.638000	0.93763	0.676000	0.76740	0.048000	0.21332	1.000000	0.68203	0.010000	0.09038	0.0:0.0:1.0:0.0	14.793	0.69479	680	0.59965	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1003.98	45	chr19	38930489	.	G	A	1003.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.96;DP=774;ExcessHet=0.0000;FS=3.825;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.98;ReadPosRankSum=2.16;SOR=1.280	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr19	39031098	39031098	T	A	exonic	FBXO27	.	nonsynonymous SNV	FBXO27:NM_178820:exon4:c.A503T:p.D168V,	.	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.983	D	0.905	P	0.013	N	1.000	D	3.06	M	0.5	T	-0.601	T	0.305	T	0.847	3.570	18.19	1.8	0.194	2.398	4.175	0.352	0.0371714129417	.	0.000199681	0.0002	0	0	0	0	0.0003	0.0011	0.0003	0.0001811	28	154602	rs147557604	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0002	0.0002	0	4.472e-05	0.0029	0	0	0.0007	4.676e-05	0.0002	0.0003	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	8.721e-05	7.312e-05	3.037e-05	2.408e-05	0	0	0.0040	0	0	0.0034	7.353e-05	0	0.0004	0.001	0.78490	D	0.0	0.92824	D	0.983	0.60381	D	0.905	0.64260	P	0.012833	0.29040	N	0.219510	0.99973	0.48635	D	3.255	0.89877	M	0.5	0.55608	T	-7.7	0.95634	D	0.765	0.78072	-0.6014	0.64759	T	0.305	0.67584	T	10	0.14223915	0.27019	T	0.037171	0.57449	D	0.352	0.67326	.	.	0.76541106555	0.76326	0.7835971445815124	0.78310	1.59402822515	0.88583	0.460890412331	0.33433	T	0.348545	0.71652	T	0.0283046	0.55497	T	0.103205	0.77119	D	0.365199003200005	0.27611	T	.	.	.	0.6203334	0.73781	0.4407204	0.67381	0.6203334	0.73782	0.4407204	0.67381	-11.799	0.83858	D	.	.	0.280	0.53363	B	.;.;.	.;.;.	4.388123	0.67704	25.1	0.99230238168660312	0.56183	0.73475	0.35940	D	AEFDGBHCI	0.167438	0.29411	N	0.373577604197245	0.59994	4.183762	0.233156085716848	0.51695	3.349982	0.999999832514799	0.74766	0.65757	0.49021	0	0.218748	0.04544	0	0.52208	0.10781	0	0.604282	0.37693	0	.	.	3.99	1.8	0.24069	3.162000	0.50454	2.521000	0.33121	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.1119:0.2073:0.6808	4.175	0.09808	587	0.69154	F-box associated (FBA) domain|F-box associated (FBA) domain|F-box associated (FBA) domain;F-box associated (FBA) domain|F-box associated (FBA) domain|F-box associated (FBA) domain;F-box associated (FBA) domain|F-box associated (FBA) domain|F-box associated (FBA) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1846.98	36	chr19	39031098	.	T	A	1846.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.836;DP=882;ExcessHet=0.0000;FS=1.176;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.20;ReadPosRankSum=-2.107e+00;SOR=0.802	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1090	20	0	1	0
chr19	39100628	39100628	G	A	exonic	ACP7	.	nonsynonymous SNV	ACP7:NM_001363687:exon5:c.G554A:p.R185K,	.	.	428	1085	9	0	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00172027028043	0.0005	0.000599042	0.0006	0	0.0011	0	0	0.0006	0.0011	0.0010	0.0005886	91	154602	rs142633344	0.0005	0.0005	0.0004	0.0005	0.0019	0.0004	0.0004	0.0011	0.0009	5.974e-05	0.0012	0.0033	2.519e-05	5.616e-05	0.0019	0.0003	0.0009	0.0011	0.0003	0.0003	0.0003	0.0003	0.0006	0.0003	0.0002	0.0003	0.0002	0	0	0.0006	0.0043	0	0	0	0.0003	0.0009	0.0002	.	.	.	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.342	0.38335	.	.	.	.	.	.	.	0.011525065	0.00251	T	0.00172	0.02882	T	.	.	.	.	0.640992367474	0.63802	.	.	.	.	.	.	.	0.028029	0.20393	T	-0.481911	0.00721	T	-0.505542	0.21774	T	.	.	.	0.40416	0.10358	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.32178	B	.	.	0.443248	0.08133	4.865	0.41170424696469854	0.02953	0.49952	0.28551	N	AEFDBI	0.033847	0.04091	N	.	.	.	.	.	.	0.00664917768213927	0.11271	0.580535	0.33130	0	0.59043	0.45803	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	5.24	0.276	0.14916	1.797000	0.38438	.	.	-0.116000	0.14526	1.000000	0.71638	0.999000	0.35428	0.971000	0.54645	0.4128:0.0:0.5872:0.0	8.465	0.32111	528	0.73785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	957.98	37	chr19	39100628	.	G	A	957.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.546e+00;DP=949;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=1.16;SOR=0.697	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr19	39199259	39199259	T	C	exonic	NCCRP1	.	nonsynonymous SNV	NCCRP1:NM_001001414:exon4:c.T542C:p.M181T,	.	.	392	1127	3	0	0	3	0.0013292	.	.	2761078	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.57	T	0.982	D	0.824	P	0.001	D	0.865	D	1.39	L	1.64	T	-0.990	T	0.105	T	0.589	2.321	13.72	5.44	2.072	2.914	13.455	0.170	0.0118597431525	0.0005	0.000399361	0.0005	0	0	0	0	0.0007	0.0011	0.0013	0.0004786	74	154602	rs142595740	0.0004	0.0004	0.0003	0.0004	0.0012	0.0003	0.0003	0.0010	0.0009	5.976e-05	6.708e-05	0.0060	0	1.874e-05	0.0007	0.0002	0.0007	0.0012	0.0004	0.0004	0.0003	0.0005	0.0017	0.0003	0.0003	0.0008	0.0006	4.816e-05	0	0.0001	0.0072	0	0	0	0.0003	0.0005	0.0017	0.136	0.26085	T	0.495	0.11371	T	0.982	0.60036	D	0.824	0.59271	P	0.000692	0.42383	D	0.241353	0.865061	0.35458	D	2.135	0.59519	M	1.64	0.27822	T	-1.83	0.42957	N	0.768	0.76573	-0.9896	0.32702	T	0.105	0.38562	T	10	0.054880172	0.05912	T	0.01186	0.29900	T	0.170	0.43303	.	.	0.524271286562	0.52073	0.27961115996921126	0.27874	0.799004479911	0.66158	0.709340035915	0.68498	T	0.053513	0.29465	T	-0.365401	0.03834	T	-0.338183	0.40551	T	0.0384208523846295	0.03407	T	0.644736	0.25622	T	0.18203817	0.39403	0.21447904	0.46000	0.18203817	0.39403	0.21447904	0.45999	0.268	0.00267	T	.	.	0.763	0.75609	P	.	.	3.656223	0.51914	23.2	0.97192003793342707	0.32771	0.85183	0.44294	D	AEFDBHCIJ	0.356217	0.44768	N	0.36438547109801	0.59503	4.13027	0.398927654985679	0.61500	4.350823	0.975376205665939	0.29628	0.700653	0.57754	0	0.563428	0.19063	0	0.717052	0.78885	0	0.526665	0.08891	0	.	.	5.44	5.44	0.79348	3.232000	0.51003	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.921000	0.45669	0.0:0.0:0.0:1.0	13.455	0.60645	516	0.74704	F-box associated (FBA) domain|F-box associated (FBA) domain|F-box associated (FBA) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	614.98	34	chr19	39199259	.	T	C	614.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.732e+00;DP=790;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.34;ReadPosRankSum=-9.000e-01;SOR=0.703	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1176	20	0	1	0
chr19	39203896	39203896	C	T	exonic	SYCN	.	nonsynonymous SNV	SYCN:NM_001080468:exon1:c.G359A:p.G120E,	.	.	422	1098	2	0	0	2	0.000909918	.	.	2240952	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.997	D	0.918	D	0.001	D	0.996	N	1.955	M	0.64	T	-0.800	T	0.241	T	0.683	2.219	13.38	3.96	2.038	5.709	13.553	0.263	0.026120060171	.	.	2.985e-05	0	0	0	0	1.735e-05	0	0.0002	1.94e-05	3	154602	rs751304845	4.387e-05	4.378e-05	5.318e-05	3.446e-05	0.0005	3.516e-05	3.2e-05	0.0001	7.557e-05	2.989e-05	2.251e-05	0	0	0	0.0005	4.232e-05	4.979e-05	0.0001	4.597e-05	4.593e-05	6.425e-05	2.687e-05	8.824e-05	2.108e-05	1.526e-05	3.763e-05	2.576e-05	0	0	0	0	0	0	0.0034	8.824e-05	0	0	0.01	0.56456	D	0.031	0.53788	D	0.997	0.70673	D	0.918	0.65394	D	0.000816	0.41658	D	0.090415	0.995607	0.23248	N	2.645	0.77386	M	0.64	0.52867	T	-6.88	0.93217	D	0.628	0.64223	-0.8002	0.55133	T	0.241	0.60881	T	10	0.7391561	0.74833	D	0.02612	0.49051	D	0.263	0.57612	0.517	0.61763	0.406120066682	0.40223	0.8295754062324342	0.82915	0.683597874997	0.60172	0.506132781506	0.39682	T	0.479274	0.80875	T	-0.0933871	0.37518	T	-0.135252	0.60527	T	0.683853268623352	0.39964	D	0.573743	0.20563	T	0.5646815	0.70768	0.6887695	0.81691	0.5646815	0.70769	0.6887695	0.81692	-5.414	0.41054	T	.	.	0.365	0.57554	A	.	.	3.652462	0.51842	23.2	0.98367190939192928	0.40709	0.91393	0.53443	D	AEFDBI	0.724156	0.67354	D	0.255851181588532	0.53927	3.559875	0.0828213870209732	0.43684	2.665184	0.996739454093382	0.34966	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	3.96	3.96	0.45097	4.264000	0.58657	.	.	0.524000	0.24156	0.572000	0.27522	0.147000	0.23145	0.101000	0.18331	0.0:1.0:0.0:0.0	13.553	0.61204	520	0.74355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	812.98	39	chr19	39203896	.	C	T	812.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.710e-01;DP=782;ExcessHet=0.0000;FS=0.876;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.16;ReadPosRankSum=0.137;SOR=0.565	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,974	20	0	1	0
chr19	39204167	39204167	T	A	exonic	SYCN	.	stopgain	SYCN:NM_001080468:exon1:c.A88T:p.K30X,	.	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.001	D	1.000	A	.	.	.	.	.	.	.	.	.	3.562	18.16	4.3	1.804	2.348	11.442	.	.	.	.	2.68e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs768006739	9.59e-06	9.577e-06	2.726e-06	1.652e-05	0.0002	5.57e-06	4.35e-06	9.796e-05	7.842e-05	0	0	0	0	0	0	0	0	0.0002	1.313e-05	1.312e-05	0	2.685e-05	0.0004	2.18e-06	8.2e-07	7.282e-05	3.026e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.000693	0.42383	D	0.085566	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.167	0.17691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.420019	0.91021	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.546530	0.95383	35	0.99400885763486124	0.62794	0.86192	0.45426	D	AEFDBI	0.084692	0.17166	N	0.485901375593272	0.66267	4.928042	0.272853907516134	0.53959	3.562601	0.999830542254053	0.43792	0.437478	0.07067	0	0.59043	0.45803	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	4.3	4.3	0.50540	1.843000	0.38900	.	.	0.519000	0.23678	0.937000	0.32526	1.000000	0.68203	0.071000	0.16709	0.0:0.0:0.0:1.0	11.442	0.49349	520	0.74355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	981.98	39	chr19	39204167	.	T	A	981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.950e-01;DP=775;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.88;ReadPosRankSum=-6.810e-01;SOR=0.804	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,974	20	0	1	0
chr19	39268683	39268683	C	G	exonic	IFNL2	.	nonsynonymous SNV	IFNL2:NM_172138:exon2:c.C17G:p.T6S,	.	.	394	1069	58	1	0	60	0.0272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.017	B	0.036	B	0.403	N	1.000	N	-0.345	N	2.55	T	-0.976	T	0.014	T	0.06	0.370	6.009	2.18	0.638	0.466	8.711	0.034	.	0.0060	0.0103834	0.0084	0.0015	0.0049	0.0001	0.0005	0.0081	0.0143	0.0235	0.0082405	1274	154602	rs142031126	0.0087	0.0087	0.0081	0.0092	0.0232	0.0086	0.0085	0.0223	0.0220	0.0013	0.0052	0.0127	2.519e-05	0.0011	0.0217	0.0084	0.0089	0.0232	0.0062	0.0062	0.0062	0.0062	0.0251	0.0059	0.0058	0.0214	0.0201	0.0016	0	0.0071	0.0095	0	0.0006	0.0170	0.0086	0.0071	0.0251	0.346	0.12469	T	0.272	0.22223	T	0.017	0.17573	B	0.036	0.22909	B	0.402935	0.04545	N	1.539810	1	0.08975	N	0.205	0.09354	N	2.55	0.13795	T	0.16	0.05217	N	0.09	0.06854	-0.9760	0.35904	T	0.014	0.05369	T	10	0.0037507713	0.00070	T	.	.	.	0.034	0.08419	0.152	0.05544	0.104622674875	0.10061	0.10945525285505907	0.10874	0.282123927823	0.30676	0.33310854435	0.15404	T	0.006617	0.06047	T	-0.721941	0.00027	T	-0.792209	0.02105	T	0.00170357977358575	0.00017	T	0.19678	0.02180	T	0.022907108	0.00988	0.02842597	0.01077	0.022907108	0.00988	0.02842597	0.01077	-3.021	0.10409	T	.	.	0.085	0.10111	B	.	.	-0.061201	0.03878	0.845	0.56440122075619437	0.05553	0.03824	0.09165	N	AEFDGI	0.022517	0.01135	N	-1.1275330983598	0.06157	0.282706	-1.1155589654113	0.07402	0.3599391	0.00107984509852559	0.08194	0.525926	0.21836	0	0.615948	0.52940	0	0.48864	0.07692	0	0.542086	0.14980	0	.	.	3.29	2.18	0.26813	0.602000	0.23833	.	.	-2.382000	0.00299	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.7638:0.2362:0.0	8.711	0.33543	636	0.64483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2628.98	33	chr19	39268683	.	C	G	2628.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=1079;ExcessHet=0.0000;FS=4.702;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.73;MQRankSum=-1.193e+00;QD=12.34;ReadPosRankSum=0.600;SOR=0.957	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	20	0	1	0
chr19	39377629	39377629	G	A	exonic	SAMD4B	.	nonsynonymous SNV	SAMD4B:NM_001303614:exon7:c.G1249A:p.E417K	.	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	T	0.006	B	0.003	B	0.836	N	0.853	N	0.69	N	.	.	-1.070	T	0.089	T	0.233	1.128	9.596	4.72	2.449	2.972	13.056	0.096	.	.	0.00539137	0.0024	0	0.0003	0.0003	0	0	0.0011	0.0174	0.0021151	327	154602	rs529872635	0.0010	0.0010	0.0005	0.0015	0.0165	0.0010	0.0010	0.0157	0.0155	2.987e-05	0	0	5.038e-05	0	0.0005	5.396e-06	0.0010	0.0165	0.0008	0.0008	0.0004	0.0011	0.0228	0.0006	0.0006	0.0193	0.0181	4.812e-05	0	0	0	0.0002	0	0	1.47e-05	0.0005	0.0228	0.284	0.15303	T	0.876	0.03305	T	0.001	0.07471	B	0.001	0.04355	B	0.835986	0.06970	N	1.080090	0.852527	0.28475	N	1.61	0.41143	L	.	.	.	-0.54	0.16598	N	0.31	0.34981	-1.0702	0.09370	T	0.089	0.34243	T	9	0.003887415	0.00074	T	.	.	.	0.096	0.27654	.	.	0.043077524339	0.03247	0.30515390879934123	0.30428	0.827125518207	0.67455	0.418427348137	0.27621	T	0.008277	0.15646	T	-0.444437	0.01218	T	-0.397554	0.33668	T	0.0432727207089436	0.04288	T	0.839416	0.51368	T	0.10987287	0.25974	0.09558862	0.22678	0.10987287	0.25973	0.09558862	0.22678	-4.4	0.29557	T	.	.	0.083	0.12465	B	.;.;.;.	.;.;.;.	3.227909	0.44012	21.8	0.99381889872199336	0.61935	0.88254	0.48100	D	AEFDBI	0.365955	0.45394	N	-0.419508298916551	0.24785	1.34079	-0.24864995992771	0.29818	1.673699	0.991022421301499	0.32347	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.72	4.72	0.59248	4.241000	0.58503	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.206000	0.22070	0.0:0.0:1.0:0.0	13.056	0.58390	749	0.51929	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1480.98	35	chr19	39377629	.	G	A	1480.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.55;DP=816;ExcessHet=0.0000;FS=2.379;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=0.067;SOR=0.933	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1240	20	0	1	0
chr19	39383711	39383711	C	T	exonic	SAMD4B	.	nonsynonymous SNV	SAMD4B:NM_001303614:exon13:c.C2060T:p.P687L	.	.	413	1107	2	0	0	2	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.370853251563	.	0.000199681	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs562963578	1.371e-05	1.3e-05	9.976e-06	1.754e-05	0.0002	8.77e-06	7.07e-06	8.34e-06	6.62e-06	0	0	0	2.799e-05	0	0.0002	1.39e-05	1.727e-05	1.252e-05	1.969e-05	1.968e-05	3.854e-05	0	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.94e-05	0	0	.	.	.	0.324	0.18903	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.157	0.16308	.	.	.	.	.	.	.	0.12061313	0.22848	T	0.370853	0.92742	D	.	.	.	.	0.767349866357	0.76522	.	.	.	.	.	.	.	0.002644	0.02035	T	-0.119088	0.33274	T	-0.298779	0.44853	T	.	.	.	0.463454	0.13490	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.36947	B	.	.	1.362327	0.17716	13.33	0.92888039278404677	0.22438	0.80140	0.39858	D	AEFBI	0.249037	0.36934	N	.	.	.	.	.	.	0.998508832767923	0.37090	0.706548	0.73137	0	0.702456	0.74545	0	0.786243	0.99158	0	0.714379	0.83352	0	.	.	3.81	3.81	0.43020	1.616000	0.36543	.	.	-0.257000	0.07002	0.900000	0.31427	0.005000	0.19230	0.980000	0.58198	0.0:1.0:0.0:0.0	11.413	0.49179	744	0.52588	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	407.98	43	chr19	39383711	.	C	T	407.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=658;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.66;ReadPosRankSum=-1.700e-02;SOR=0.602	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1137	20	0	1	0
chr19	39415160	39415160	G	A	exonic	PLEKHG2	.	nonsynonymous SNV	PLEKHG2:NM_001351694:exon3:c.G278A:p.G93E	Leukodystrophy and acquired microcephaly with or without dystonia, Autosomal recessive	.	419	1100	3	0	0	3	0.00136178	.	.	1431433	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.5	T	0.125	B	0.056	B	0.197	N	1.000	N	0.895	L	1.66	T	-0.981	T	0.171	T	0.227	2.341	13.79	1.57	0.260	0.167	6.719	0.049	0.0367471052329	.	0.000199681	0.0001	0	0	0	0	0.0002	0	9.743e-05	7.76e-05	12	154602	rs200867987	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0002	0.0001	3.031e-05	0.0002	0	2.577e-05	0	0.0007	0.0001	0.0003	0.0002	8.533e-05	8.529e-05	6.423e-05	0.0001	0.0002	4.952e-05	3.959e-05	6.804e-05	5.088e-05	0	0	0.0001	0	0	0	0	0.0001	0.0005	0.0002	0.094	0.46513	T	0.007	0.92824	D	0.125	0.26866	B	0.056	0.26147	B	0.197446	0.16687	N	0.537683	1	0.81001	D	0.425	0.12573	N	-0.17	0.71543	T	-2.34	0.61865	N	0.218	0.24385	-0.9808	0.34817	T	0.171	0.51197	T	10	0.043388397	0.03184	T	0.036747	0.57186	D	0.049	0.13647	0.25	0.18757	0.402755899245	0.39889	0.5802819635831604	0.57957	.	.	0.71285623312	0.69007	T	0.006023	0.05459	T	-0.294981	0.09142	T	-0.392197	0.34294	T	0.039889552039644	0.03671	T	0.605339	0.25008	T	0.06676526	0.14395	0.08310138	0.19019	0.06676526	0.14395	0.08310138	0.19019	-2.578	0.07636	T	.	.	0.117	0.27998	B	.;.;.;.	.;.;.;.	3.255341	0.44492	21.9	0.9833472741481688	0.40378	0.19585	0.20718	N	AEFDBHCI	0.093486	0.18915	N	-0.77104185685469	0.14069	0.6978668	-0.725943118749232	0.16316	0.8625386	0.999999989744741	0.74766	0.741868	0.97996	0	0.685571	0.66316	0	0.774882	0.98623	0	0.627883	0.49187	0	.	.	4.85	1.57	0.22490	0.289000	0.18713	.	.	-0.167000	0.11441	0.000000	0.06391	0.997000	0.33255	0.827000	0.38976	0.2888:0.0:0.7112:0.0	6.719	0.22506	688	0.59122	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1190.98	35	chr19	39415160	.	G	A	1190.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.91;DP=791;ExcessHet=0.0000;FS=1.771;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.85;ReadPosRankSum=0.730;SOR=0.998	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1115	20	0	1	0
chr19	39418017	39418017	G	T	exonic	PLEKHG2	.	nonsynonymous SNV	PLEKHG2:NM_001351693:exon9:c.G818T:p.G273V	Leukodystrophy and acquired microcephaly with or without dystonia, Autosomal recessive	.	420	1070	30	2	0	34	0.0156394	.	.	1610372	Leukodystrophy_and_acquired_microcephaly_with_or_without_dystonia%3B|not_provided	MONDO:MONDO:0014766,MedGen:C4225213,OMIM:616763|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.17	T	1.0	D	0.998	D	0.000	D	1.000	D	0.69	N	-2.24	D	-0.180	T	0.381	T	0.59	4.115	21.2	4.65	2.606	3.873	8.934	0.530	.	0.0062	0.00658946	0.0189	0.0029	0.0141	0.0007	0.0113	0.0208	0.0312	0.0415	0.0079042	1222	154602	rs117405645	0.0095	0.0095	0.0093	0.0097	0.0217	0.0094	0.0093	0.0185	0.0174	0.0017	0.0074	0.0086	0.0001	0.0031	0.0217	0.0099	0.0096	0.0169	0.0074	0.0074	0.0072	0.0076	0.0176	0.0070	0.0069	0.0146	0.0135	0.0024	0	0.0112	0.0089	0.0002	0.0021	0.0308	0.0099	0.0142	0.0176	0.004	0.65419	D	0.012	0.63918	D	1.0	0.90584	D	0.998	0.88582	D	0.000279	0.46590	D	0.143807	0.999999	0.58761	D	1.245	0.31408	L	-2.24	0.87194	D	-2.04	0.49684	N	0.383	0.46835	-0.1804	0.78170	T	0.381	0.73774	T	10	0.0092255175	0.00208	T	.	.	.	0.530	0.80188	.	.	0.830166376265	0.82855	0.4847988160656083	0.48399	.	.	0.773349881172	0.77925	T	0.004272	0.03680	T	-0.211521	0.19166	T	-0.0629856	0.66123	T	0.0240597923232598	0.01153	T	0.875712	0.58780	D	0.1913511	0.40759	0.16917193	0.38932	0.1935495	0.41069	0.16917193	0.38931	-13.033	0.89499	D	.	.	0.61	0.69292	P	.;.;.	.;.;.	4.848343	0.79229	27.1	0.99764376607998473	0.85335	0.94590	0.61662	D	AEFBI	0.628148	0.61034	D	0.261891830940901	0.54231	3.589069	0.349564429723923	0.58480	4.018855	0.999999469872948	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.65	4.65	0.57626	3.909000	0.56076	.	.	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.1:0.0:0.9:0.0	8.934	0.34849	688	0.59122	Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1396.98	34	chr19	39418017	.	G	T	1396.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.652;DP=831;ExcessHet=0.0000;FS=1.710;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.40;ReadPosRankSum=0.896;SOR=0.543	GT:AD:DP:GQ:PL	0/1:36,61:97:99:1411,0,680	20	0	1	0
chr19	39422762	39422762	G	A	exonic	PLEKHG2	.	nonsynonymous SNV	PLEKHG2:NM_001351693:exon18:c.G1531A:p.G511R	Leukodystrophy and acquired microcephaly with or without dystonia, Autosomal recessive	YES	421	1095	6	0	0	6	0.00273224	.	.	389177	not_provided|Abnormal_brain_morphology	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.71	T	0.119	B	0.017	B	0.070	N	0.703	D	0.625	N	-0.6	T	-0.902	T	0.162	T	0.226	-0.130	3.363	-2.66	-0.213	0.380	9.993	0.092	0.0323770695073	7.7e-05	.	9.952e-05	9.802e-05	0	0.0002	0	0.0001	0	0.0001	9.7e-05	15	154602	rs370673772	7.587e-05	7.73e-05	7.018e-05	8.177e-05	0.0002	6.377e-05	5.959e-05	0.0001	8.603e-05	0.0002	0.0001	0.0001	2.561e-05	0	0.0002	6.822e-05	0.0001	0.0002	9.867e-05	9.854e-05	0.0001	6.733e-05	0.0001	6.013e-05	4.885e-05	7.912e-05	5.996e-05	0.0001	0	0	0	0	0	0	0.0001	0	0	0.4	0.10482	T	0.226	0.27414	T	0.119	0.26641	B	0.012	0.16012	B	0.070237	0.21553	N	0.341096	0.702524	0.33436	D	0.485	0.13215	N	-0.8	0.73845	T	-0.75	0.21003	N	0.208	0.23125	-0.9021	0.47771	T	0.162	0.49781	T	10	0.039737165	0.02488	T	0.032377	0.54220	D	0.092	0.26621	0.123	0.02942	0.207176502487	0.20327	0.1247382091920939	0.12399	.	.	0.377633064985	0.21920	T	0.002026	0.01432	T	-0.324219	0.06558	T	-0.42406	0.30610	T	0.0086155843916963	0.00105	T	0.720328	0.33319	T	0.023363322	0.01070	0.03989689	0.04190	0.023363322	0.01070	0.03989689	0.04190	-4.932	0.36093	T	.	.	0.092	0.18539	B	.;.	.;.	1.186957	0.15778	12.10	0.66151428493401443	0.07976	0.10450	0.15953	N	AEFDGBI	0.053576	0.09666	N	-1.21084912628357	0.04840	0.219356	-1.21235822934504	0.05711	0.2728624	0.999991300549885	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.43	-2.66	0.05721	0.264000	0.18264	.	.	-0.823000	0.02940	0.172000	0.23960	0.523000	0.25320	0.030000	0.13115	0.5433:0.0:0.4567:0.0	9.993	0.41054	675	0.60470	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1144.98	36	chr19	39422762	.	G	A	1144.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.510e-01;DP=819;ExcessHet=0.0000;FS=0.860;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.79;ReadPosRankSum=1.39;SOR=0.561	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,117,1517	20	0	1	0
chr19	39485592	39485592	A	T	exonic	TIMM50	.	nonsynonymous SNV	TIMM50:NM_001001563:exon5:c.A362T:p.D121V,	.	.	422	1083	17	0	0	17	0.00778745	.	.	1127896	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.232	B	0.07	B	0.000	D	1.000	D	0.46	N	.	.	-1.008	T	0.109	T	0.9	3.237	16.85	4.98	2.081	8.299	13.769	0.266	0.0126171447994	0.0002	0.000998403	0.0009	0	8.637e-05	0	0	0.0001	0	0.0063	0.0008279	128	154602	rs143636898	0.0004	0.0004	0.0003	0.0006	0.0059	0.0004	0.0004	0.0055	0.0053	2.987e-05	2.236e-05	0	0	0	0.0028	9.802e-05	0.0003	0.0059	0.0003	0.0003	0.0003	0.0003	0.0052	0.0002	0.0002	0.0036	0.0031	2.41e-05	0	0	0	0	0	0.0068	0.0002	0.0005	0.0052	0.023	0.48186	D	0.497	0.11299	T	0.232	0.30664	B	0.07	0.27859	B	0.000019	0.62929	D	0.116646	1	0.81001	D	1.4	0.35362	L	.	.	.	-0.94	0.25118	N	0.78	0.77695	-1.0081	0.27510	T	0.109	0.39462	T	8	0.009700388	0.00218	T	0.012617	0.31353	T	0.266	0.57999	.	.	0.323342291347	0.31936	0.8629128084474169	0.86255	0.494755770336	0.48030	0.772827982903	0.77848	T	0.040764	0.26783	T	0.0426556	0.57391	T	0.290138	0.87683	D	0.043100526156782	0.04256	T	0.871313	0.57716	D	0.29603958	0.52547	0.25416547	0.51077	0.31009892	0.53795	0.23599663	0.48858	-13.884	0.92674	D	0.4912078908221296	0.56807	0.819	0.78162	P	.;.;.;.	.;.;.;.	3.453608	0.48099	22.6	0.98693697815120118	0.44795	0.98338	0.81774	D	AEFBCI	0.929287	0.91480	D	0.0370079771904828	0.43547	2.645399	0.222922799309285	0.51120	3.297499	0.999992643751617	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.98	4.98	0.65679	6.488000	0.73544	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	13.769	0.62499	819	0.41190	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	948.98	34	chr19	39485592	.	A	T	948.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.540e-01;DP=801;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.30;ReadPosRankSum=0.399;SOR=0.628	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1370	20	0	1	0
chr19	39515516	39515516	C	T	exonic	SELENOV	.	unknown	UNKNOWN,	.	.	386	1127	8	1	0	10	0.00441696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.003	B	0.004	B	.	.	1.000	N	1.28	L	0.56	T	-1.005	T	0.079	T	0.085	2.612	14.69	0.541	0.241	0.726	5.769	0.028	.	.	0.00199681	0.0042	0.0010	0	0	0.0667	0.0075	0	0.0020	0.0015071	233	154602	rs191574540	0.0082	0.0079	0.0085	0.0079	0.0097	0.0081	0.0080	0.0095	0.0095	0.0014	0.0008	0.0013	2.798e-05	0.0104	0.0019	0.0097	0.0045	0.0021	0.0056	0.0056	0.0057	0.0055	0.0095	0.0053	0.0052	0.0089	0.0087	0.0015	0	0.0020	0.0003	0	0.0094	0	0.0095	0.0028	0.0017	0.367	0.14843	T	0.016	0.62352	D	0.003	0.11197	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	0.56	0.54728	T	-2.44	0.54059	N	0.33	0.37093	-1.0047	0.28547	T	0.079	0.31314	T	9	0.004009843	0.00077	T	.	.	.	0.028	0.06331	.	.	0.0611884634855	0.05136	.	.	0.581582476292	0.53953	0.536685943604	0.43978	T	0.038021	0.24688	T	-0.591359	0.00165	T	-0.615542	0.11539	T	0.0136076707393609	0.00252	T	0.447055	0.12542	T	0.06190288	0.12872	0.10301053	0.24705	0.06190288	0.12871	0.10301053	0.24704	.	.	.	.	.	0.133	0.30423	B	.;.;.	.;.;.	1.416614	0.18325	13.68	0.99412204737360155	0.63358	0.04088	0.09549	N	ALL	0.044105	0.07055	N	-0.996890770180758	0.08670	0.4073853	-1.08363377828632	0.08022	0.3926623	0.99999872813711	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.52208	0.10781	0	0.63947	0.58350	0	.	.	2.81	0.541	0.16359	0.533000	0.22791	.	.	0.541000	0.25215	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6766:0.2:0.1234	5.769	0.17507	814	0.42100	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1357.98	39	chr19	39515516	.	C	T	1357.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=808;ExcessHet=0.0000;FS=2.468;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=-1.460e-01;SOR=0.943	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr19	39515674	39515674	C	T	exonic	SELENOV	.	unknown	UNKNOWN,	.	.	417	1099	6	0	0	6	0.00272232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0295527	0.0223	0.0011	0.0461	0.0579	0.0758	0.0008	0.0195	0.0351	0.0044889	694	154602	rs75990051	0.0063	0.0061	0.0056	0.0070	0.0492	0.0062	0.0061	0.0473	0.0465	0.0012	0.0492	3.973e-05	0.0468	0.0194	0.0023	0.0009	0.0094	0.0365	0.0088	0.0088	0.0070	0.0106	0.0497	0.0084	0.0082	0.0447	0.0428	0.0017	0	0.0335	0	0.0497	0.0194	0	0.0009	0.0099	0.0424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	951.98	39	chr19	39515674	.	C	T	951.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.237e+00;DP=770;ExcessHet=0.0000;FS=4.670;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.41;ReadPosRankSum=-7.600e-02;SOR=0.789	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr19	39658545	39658545	C	T	exonic	LGALS16	.	nonsynonymous SNV	LGALS16:NM_001190441:exon3:c.C178T:p.R60C,	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.025	B	0.006	B	.	.	1.000	N	1.1	L	2.21	T	-0.996	T	0.028	T	0.203	1.191	9.842	-0.446	0.613	-1.662	4.482	0.019	0.000842952024572	.	.	0.0002	0	0	0.0002	0	0.0002	0	0.0005	0.0001488	23	154602	rs762993816	0.0002	0.0002	0.0001	0.0002	0.0007	0.0001	0.0001	0.0004	0.0004	0	0.0002	0.0022	5.063e-05	0	0.0007	8.194e-05	0.0004	0.0005	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	9.244e-05	7.908e-05	5.994e-05	0	0	0.0001	0.0032	0	0	0	0.0001	0	0.0002	0.138	0.25873	T	0.075	0.42794	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.21	0.18414	T	-2.79	0.59059	D	0.191	0.20925	-0.9960	0.31028	T	0.028	0.12190	T	9	0.01776421	0.00381	T	8.43E-4	0.00713	T	0.019	0.03383	.	.	0.180583059064	0.17676	0.35469017885351345	0.35383	0.0335249413607	0.03509	0.322643339634	0.13821	T	.	.	.	-0.547094	0.00304	T	-0.699696	0.05842	T	0.0253987123596598	0.01326	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.34536	B	.	.	0.211877	0.05954	2.393	0.90011018743775539	0.19301	0.00156	0.00937	N	AEFGBI	0.042204	0.06517	N	-1.01259227854222	0.08342	0.390795	-1.10174852647663	0.07666	0.3738366	5.02840193183106E-5	0.03989	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	1.21	-0.446	0.11627	-1.737000	0.01943	.	.	-0.704000	0.03997	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5764:0.4236:0.0	4.482	0.11184	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3099.98	36	chr19	39658545	.	C	T	3099.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=972;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=-4.560e-01;SOR=0.692	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1312	20	0	1	0
chr19	39660505	39660505	C	A	exonic	LGALS16	.	nonsynonymous SNV	LGALS16:NM_001190441:exon4:c.C414A:p.N138K,	.	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.005	B	0.008	B	.	.	1.000	N	0	N	2.38	T	-0.983	T	0.020	T	0.041	-0.572	1.424	0.647	0.613	-1.224	.	0.013	0.000707563602261	.	0.00139776	0.0041	0.0006	0.0086	0	0	0.0025	0.0053	0.0066	0.0007684	20	26028	rs186797209	0.0006	0.0006	0.0005	0.0008	0.0056	0.0006	0.0006	0.0052	0.0050	0	0.0009	0.0024	0	0	0.0016	0.0002	0.0011	0.0056	0.0007	0.0007	0.0007	0.0007	0.0044	0.0006	0.0005	0.0029	0.0025	2.406e-05	0.0242	0.0007	0.0032	0	0	0.0102	0.0005	0.0005	0.0044	0.243	0.17526	T	0.49	0.11551	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.38	0.15843	T	-0.02	0.07299	N	0.077	0.05162	-0.9831	0.34281	T	0.020	0.08407	T	8	0.0045831203	0.00095	T	7.08E-4	0.00454	T	0.013	0.01715	0.313	0.28774	0.0297737177859	0.01360	0.23125702305543835	0.23040	0.0323160249069	0.03370	0.454158842564	0.32512	T	.	.	.	-0.761551	0.00015	T	-0.864911	0.00792	T	0.00739835027676296	0.00085	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.32541	B	.	.	-0.668643	0.01395	0.081	0.36638375186401068	0.02368	0.00881	0.03477	N	AEFGBI	0.032810	0.03777	N	-1.23676114324858	0.04477	0.2021408	-1.30902499869823	0.04312	0.20314	0.00313003011755968	0.09942	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	0.647	0.647	0.16968	-2.155000	0.01371	.	.	-0.578000	0.04717	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	814	0.42100	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2350.98	37	chr19	39660505	.	C	A	2350.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.120e-01;DP=833;ExcessHet=0.0000;FS=4.147;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.67;ReadPosRankSum=2.85;SOR=0.429	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1433	20	0	1	0
chr19	39830764	39830764	A	G	exonic	DYRK1B	.	nonsynonymous SNV	DYRK1B:NM_004714:exon3:c.T83C:p.L28P	Abdominal obesity-metabolic syndrome 3, Autosomal dominant	.	422	1070	27	3	0	33	0.0151864	.	.	716444	not_provided|DYRK1B-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.3	T	0.965	D	0.563	P	0.005	N	1.000	D	1.245	L	0.51	T	-0.949	T	0.152	T	0.578	3.720	18.89	4.93	1.852	4.215	12.545	0.086	.	0.0019	0.00399361	0.0046	0.0003	0.0032	0.0001	0	0.0021	0.0058	0.0237	0.0040038	619	154602	rs34587974	0.0027	0.0027	0.0021	0.0034	0.0218	0.0027	0.0026	0.0210	0.0207	0.0003	0.0021	0.0025	0.0001	0.0002	0.0099	0.0016	0.0027	0.0218	0.0020	0.0020	0.0018	0.0021	0.0201	0.0018	0.0017	0.0168	0.0156	0.0004	0.0263	0.0021	0.0032	0.0004	9.409e-05	0.0136	0.0016	0.0024	0.0201	0.054	0.39820	T	0.211	0.38742	T	0.94	0.56013	P	0.36	0.49647	B	0.004706	0.33466	N	0.218004	0.999998	0.58761	D	1.15	0.29295	L	0.51	0.55775	T	-1.43	0.35194	N	0.321	0.52297	-0.9494	0.41075	T	0.152	0.48118	T	10	0.008390218	0.00190	T	.	.	.	0.086	0.25016	.	.	0.696307968527	0.69369	0.5615938848674867	0.56086	1.76035964692	0.91122	0.632241129875	0.57463	T	0.105355	0.41575	T	-0.347917	0.04860	T	-0.25495	0.49326	T	0.0441409249677052	0.04446	T	.	.	.	0.3156542	0.54271	0.24862657	0.50417	0.31791952	0.54463	0.25629076	0.51325	-2.796	0.08147	T	.	.	0.128	0.30184	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.735697	0.76313	26.5	0.9984869095352803	0.92838	0.97905	0.78016	D	AEFDBHI	0.804091	0.72905	D	0.230180320715182	0.52667	3.439396	0.292507250458728	0.55099	3.673524	0.99999944425382	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	4.93	4.93	0.64394	4.343000	0.59128	.	.	0.756000	0.94297	0.995000	0.38783	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	12.545	0.55543	638	0.64280	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	490.98	35	chr19	39830764	.	A	G	490.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.510e+00;DP=741;ExcessHet=0.0000;FS=1.215;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.44;ReadPosRankSum=1.75;SOR=0.402	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1308	20	0	1	0
chr19	39840647	39840647	C	T	exonic	FBL	.	nonsynonymous SNV	FBL:NM_001436:exon2:c.G151A:p.G51S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.385	B	0.041	B	0.689	N	1.000	N	0.345	N	-1.74	D	-0.860	T	0.243	T	0.413	2.058	12.84	-5.95	-1.463	-0.267	8.071	0.291	0.00761614061848	.	.	1.02e-05	0	0.0001	0	0	0	0	0	6.5e-06	1	154602	rs759805326	6.849e-06	6.84e-06	6.814e-06	6.884e-06	8.999e-06	3.46e-06	2.53e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.999e-06	0	0	1.315e-05	1.313e-05	2.57e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.009	0.57480	D	0.049	0.51737	D	0.296	0.32457	B	0.008	0.13708	B	0.689014	0.06135	N	1.173890	0.999883	0.19853	N	0.925	0.23481	L	-1.74	0.83413	D	-1.15	0.29525	N	0.25	0.28264	-0.8598	0.51277	T	0.243	0.61189	T	10	0.10994753	0.20531	T	0.007616	0.20219	T	0.291	0.61040	0.365	0.37199	0.811544811333	0.80977	0.5809700608621885	0.58026	0.475146259266	0.46692	0.624365270138	0.56346	T	0.16091	0.50494	T	0.0331471	0.56141	T	-0.190163	0.55576	T	0.0761367165473496	0.09485	T	.	.	.	0.066166654	0.14211	0.056036472	0.09939	0.066166654	0.14210	0.056036472	0.09939	-7.502	0.57624	D	.	.	0.125	0.29670	B	.;.;.	.;.;.	1.070525	0.14528	11.10	0.89314492851366412	0.18691	0.07695	0.13699	N	AEFBCI	0.056261	0.10386	N	-1.31387174306462	0.03515	0.1571715	-1.46400204133827	0.02646	0.1220568	0.999966815685408	0.48965	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	2.97	-5.95	0.02054	1.542000	0.35742	.	.	0.599000	0.40250	0.070000	0.22072	0.973000	0.29867	0.002000	0.04165	0.0:0.1619:0.6043:0.2338	8.071	0.29850	592	0.68746	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	892.98	33	chr19	39840647	.	C	T	892.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.31;DP=752;ExcessHet=0.0000;FS=3.928;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.17;ReadPosRankSum=0.014;SOR=1.292	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1408	20	0	1	0
chr19	39866758	39866758	C	G	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon27:c.G12312C:p.L4104F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.999	D	0.954	D	0.160	U	1.000	N	1.04	L	-0.03	T	-0.891	T	0.241	T	0.151	1.446	10.78	2.34	0.519	0.253	6.621	0.183	0.0134746646779	0.0005	0.000199681	0.0008	0.0002	0.0006	0	0.0003	0.0013	0	0.0001	0.0007891	122	154602	rs140253776	0.0009	0.0007	0.0009	0.0009	0.0010	0.0008	0.0008	0.0009	0.0009	7.607e-05	0.0005	0.0021	0	0.0005	0.0009	0.0010	0.0006	0.0002	0.0006	0.0006	0.0007	0.0006	0.0011	0.0005	0.0005	0.0007	0.0006	0.0002	0	0.0011	0.0009	0.0002	0.0004	0	0.0008	0.0014	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1635.98	123	chr19	39866758	.	C	G	1635.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.210e-01;DP=1619;ExcessHet=0.0000;FS=2.324;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.30;ReadPosRankSum=1.38;SOR=0.504	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr19	39872627	39872627	C	A	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon25:c.G11200T:p.A3734S,	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.581	P	0.432	B	0.063	U	1.000	N	0.755	N	0.39	T	-0.955	T	0.099	T	0.079	2.037	12.77	-2.26	-0.476	-0.979	8.861	0.058	0.00611710567308	.	.	4.02e-05	0	0	0	0	1.777e-05	0	0.0002	2.59e-05	4	154602	rs777554353	1.327e-05	1.163e-05	6.565e-06	2.012e-05	0.0001	7.86e-06	6.36e-06	8.329e-05	6.497e-05	0	0	0	0	0	0	2.109e-06	4.597e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1780.98	35	chr19	39872627	.	C	A	1780.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.101e+00;DP=1025;ExcessHet=0.0000;FS=1.500;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.35;ReadPosRankSum=0.343;SOR=0.753	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1246	20	0	1	0
chr19	39873243	39873243	C	T	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon24:c.G11156A:p.S3719N,	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.236	B	0.262	B	0.426	U	1.000	N	0.85	L	0.26	T	-0.953	T	0.132	T	0.048	1.883	12.25	-7.74	-1.073	-0.666	11.541	0.094	0.00763630474886	0.0002	.	0.0002	0	0.0006	0	0	0.0003	0.0011	0	0.0001811	28	154602	rs149938362	0.0002	0.0001	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0002	3.803e-05	0.0005	0.0005	0	3.075e-05	0.0002	0.0002	0.0003	1.204e-05	0.0001	0.0001	0.0001	9.412e-05	0.0002	7.089e-05	5.746e-05	0.0001	0.0001	0	0	6.544e-05	0	0	9.407e-05	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	875.98	34	chr19	39873243	.	C	T	875.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.100e+00;DP=799;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.27;ReadPosRankSum=-3.720e-01;SOR=0.831	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1240	20	0	1	0
chr19	39875925	39875925	C	T	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon23:c.G10066A:p.G3356S,	.	.	411	1095	16	0	0	16	0.00725295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	1.0	D	0.983	D	0.001	U	0.824	D	3.385	M	0.05	T	0.358	D	0.515	D	0.325	2.665	14.87	4.05	2.253	0.832	15.467	0.332	.	7.7e-05	0.00279553	0.0023	0	0.0003	0	0	0.0002	0.0063	0.0144	0.0018305	283	154602	rs200280608	0.0011	0.0010	0.0006	0.0017	0.0149	0.0011	0.0011	0.0142	0.0139	7.603e-05	2.684e-05	5.93e-05	0	0	0.0025	0.0001	0.0010	0.0149	0.0006	0.0006	0.0004	0.0009	0.0178	0.0005	0.0005	0.0148	0.0137	0	0	0	0	0	9.423e-05	0.0034	0.0001	0	0.0178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1496.98	39	chr19	39875925	.	C	T	1496.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.042;DP=1299;ExcessHet=0.0000;FS=2.189;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.77;ReadPosRankSum=-1.784e+00;SOR=0.503	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr19	39883323	39883323	G	C	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon19:c.C8512G:p.L2838V,	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.997	D	0.995	D	.	.	1.000	N	2.225	M	3.54	T	-1.042	T	0.042	T	0.269	0.118	4.635	1.93	0.589	0.797	7.479	0.077	0.00158768810809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.535e-06	7.53e-06	5.045e-06	1.213e-05	0.0007	4.32e-06	3.15e-06	0.0002	9.856e-05	0	0	0	0	0	0.0007	6.442e-06	2.362e-05	0	0	1.99e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3798.98	48	chr19	39883323	.	G	C	3798.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.049e+00;DP=1991;ExcessHet=0.0000;FS=0.571;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=37.81;MQRankSum=-4.895e+00;QD=6.56;ReadPosRankSum=1.14;SOR=0.762	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,119,1800	20	0	1	0
chr19	39883386	39883386	C	T	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon19:c.G8449A:p.V2817I,	.	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.001	B	0.001	B	.	.	1.000	N	0.11	N	3.58	T	-0.904	T	0.007	T	0.059	-1.367	0.026	-0.569	-0.126	0.238	4.229	0.004	0.00150558332203	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1248057548	0.0004	0.0003	0.0002	0.0006	0.0053	0.0004	0.0003	0.0049	0.0048	0	0	0	0	0	0.0007	0	0.0004	0.0053	0.0002	0.0002	2.631e-05	0.0003	0.0050	0.0001	0.0001	0.0034	0.0029	5.225e-05	0	0	0	0	0	0	0	0	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3054.98	48	chr19	39883386	.	C	T	3054.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.233e+00;DP=1783;ExcessHet=0.0000;FS=2.728;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.96;MQRankSum=-3.123e+00;QD=5.22;ReadPosRankSum=0.800;SOR=0.967	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,119,1800	20	0	1	0
chr19	39886548	39886548	G	A	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon17:c.C7631T:p.A2544V,	.	.	433	1018	71	0	0	71	0.0336972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.078	B	0.043	B	.	.	1.000	N	1.75	L	0.18	T	-0.973	T	0.134	T	0.111	3.592	18.29	-7.43	-1.255	-2.399	9.409	0.073	0.00515845595298	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1488096998	0.0035	0.0079	0.0032	0.0039	0.0116	0.0034	0.0034	0.0110	0.0107	0.0003	0.0011	0.0034	0	0.0012	0.0057	0.0032	0.0032	0.0116	0.0017	0.0049	0.0017	0.0017	0.0114	0.0016	0.0015	0.0089	0.0081	0.0003	0.0033	0.0011	0.0018	0	0.0013	0	0.0023	0.0014	0.0114	.	.	.	0.07	0.43721	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9734	0.36474	T	0.134	0.44759	T	9	0.010130703	0.00227	T	0.005158	0.13125	T	.	.	.	.	0.101711395817	0.09552	.	.	.	.	0.418726503849	0.27662	T	0.029995	0.21364	T	-0.267825	0.11999	T	-0.622489	0.10992	T	0.138795583218467	0.16171	T	0.763424	0.38984	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	0.48938	B	.	.	0.425453	0.07959	4.671	0.9942817816041134	0.64130	0.02634	0.07228	N	AEFBI	0.091879	0.18605	N	-1.21281395397476	0.04812	0.2180241	-1.37284189553889	0.03544	0.16553	0.0100883603552678	0.11964	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	3.71	-7.43	0.01238	-2.249000	0.01270	.	.	0.345000	0.19837	0.000000	0.06391	0.000000	0.08366	0.174000	0.21107	0.0:0.1829:0.2137:0.6034	9.409	0.37643	707	0.57054	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	393.98	46	chr19	39886548	.	G	A	393.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.370e+00;DP=1273;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=31.07;MQRankSum=1.41;QD=3.65;ReadPosRankSum=1.39;SOR=0.295	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:67,0:67:99:.:.:0,120,1800	20	0	1	0
chr19	39889859	39889859	A	C	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon16:c.T7213G:p.F2405V,	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.996	D	0.988	D	.	.	0.991	N	2.59	M	3.4	T	-1.040	T	0.050	T	0.407	1.303	10.27	1.89	0.325	3.441	8.196	0.100	0.00454143085334	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1385561429	1.235e-05	1.094e-05	6.529e-06	1.828e-05	0.0001	7.42e-06	5.88e-06	7.374e-05	5.664e-05	0	0	0	0	0	0	2.098e-06	4.546e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.59732	D	.	.	.	.	.	.	.	.	.	.	0.990948	0.24103	N	.	.	.	.	.	.	.	.	.	.	.	-1.0399	0.17343	T	0.050	0.21104	T	9	0.30679417	0.48187	T	0.004541	0.11189	T	.	.	.	.	0.259272394797	0.25527	.	.	.	.	0.81114423275	0.83668	D	0.094657	0.39461	T	-0.00289087	0.51255	T	-0.241929	0.50610	T	0.362149867969981	0.27493	T	0.840716	0.51609	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.721	0.73842	P	.	.	4.186795	0.63073	24.5	0.91440257548239812	0.20709	0.91825	0.54344	D	AEFGI	0.469210	0.51568	N	-0.0815378828200291	0.38202	2.233892	-0.306027821002465	0.27905	1.551731	3.24586523694362E-4	0.06540	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	2.98	1.89	0.24700	5.953000	0.70008	.	.	0.384000	0.20435	1.000000	0.71638	1.000000	0.68203	0.045000	0.14751	0.7965:0.2035:0.0:0.0	8.196	0.30558	711	0.56613	TILa domain|VWFC domain|VWFC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1045.98	47	chr19	39889859	.	A	C	1045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.629e+00;DP=1091;ExcessHet=0.0000;FS=0.784;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.92;MQRankSum=-1.800e-02;QD=3.24;ReadPosRankSum=0.664;SOR=0.817	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1364	20	0	1	0
chr19	39918623	39918623	C	T	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon4:c.G1673A:p.R558H,	.	.	.	.	.	.	.	.	.	.	.	2387907	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.32	T	1.0	D	0.98	D	0.004	U	1.000	N	1.45	L	0.22	T	-0.850	T	0.242	T	0.358	1.343	10.41	0.91	0.355	-0.111	8.878	0.224	0.010784759308	0.0005	0.000399361	0.0011	0.0011	0.0009	0	0.0022	0.0012	0	0.0009	0.0005886	91	154602	rs149431494	0.0008	0.0006	0.0008	0.0008	0.0009	0.0007	0.0007	0.0007	0.0007	0.0002	0.0008	0	0	0.0009	0.0005	0.0008	0.0009	0.0009	0.0008	0.0008	0.0007	0.0009	0.0025	0.0007	0.0006	0.0019	0.0017	0.0002	0	0.0025	0	0	0.0013	0	0.0008	0.0019	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.003665	0.34636	U	0.180937	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.8496	0.51996	T	0.242	0.61071	T	10	0.025146395	0.00718	T	0.010785	0.27705	T	.	.	.	.	.	.	.	.	.	.	0.365833759308	0.20233	T	.	.	.	-0.363046	0.03961	T	-0.3348	0.40931	T	0.0867125019431114	0.10824	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.914363	0.24313	16.35	0.99633947727522709	0.76203	0.05494	0.11380	N	AEFDBI	0.074858	0.15018	N	-0.149753217490821	0.35246	2.02199	-0.306154878960445	0.27899	1.551469	0.0042518072846399	0.10476	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.67	0.91	0.18466	-0.543000	0.06174	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.152000	0.20376	0.2976:0.558:0.1444:0.0	8.878	0.34517	606	0.67383	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	549.98	34	chr19	39918623	.	C	T	549.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=668;ExcessHet=0.0000;FS=1.831;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.09;ReadPosRankSum=2.36;SOR=0.346	GT:AD:DP:GQ:PL	0/0:30,0:30:72:0,72,1080	20	0	1	0
chr19	39927514	39927514	A	T	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon2:c.T848A:p.I283N,	.	.	431	1090	1	0	0	1	0.000458505	.	.	2384988	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.29	T	0.0	B	0.001	B	0.732	N	1.000	N	-0.55	N	2.19	T	-0.976	T	0.017	T	0.124	-0.305	2.545	-3.46	-0.425	-0.292	5.849	0.008	0.00353940507974	.	.	2.474e-05	0	0	0	0	3.002e-05	0	6.057e-05	1.94e-05	3	154602	rs754672117	2.057e-05	1.71e-05	1.957e-05	2.158e-05	0.0009	1.412e-05	1.193e-05	0.0003	0.0002	0	0	0	0	0	0.0009	1.677e-05	6.814e-05	2.403e-05	3.942e-05	3.94e-05	5.138e-05	2.689e-05	7.35e-05	1.715e-05	1.129e-05	2.846e-05	1.858e-05	0	0	6.542e-05	0	0	0	0	7.35e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.732200	0.09846	N	0.847537	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9759	0.35926	T	0.017	0.06950	T	10	0.060467362	0.07432	T	0.003539	0.08062	T	.	.	0.415	0.45380	.	.	.	.	.	.	0.378085315228	0.21984	T	.	.	.	-0.4326	0.01430	T	-0.677649	0.07128	T	0.0115028521633382	0.00173	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111672	0.05110	1.641	0.80244483723163063	0.13112	0.02262	0.06541	N	AEFGBCI	0.085253	0.17281	N	-1.4433230199087	0.02270	0.1000447	-1.4616896029183	0.02666	0.1230337	0.505380277850467	0.20976	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.29	-3.46	0.04465	-0.278000	0.08523	.	.	-0.156000	0.11795	0.000000	0.06391	0.000000	0.08366	0.099000	0.18236	0.4917:0.0:0.3759:0.1324	5.849	0.17934	597	0.68309	IgGFc-binding protein, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1837.98	34	chr19	39927514	.	A	T	1837.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.799;DP=864;ExcessHet=0.0000;FS=3.819;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=-1.470e-01;SOR=0.936	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1321	20	0	1	0
chr19	40014189	40014189	G	-	exonic	ZNF546	.	frameshift deletion	ZNF546:NM_001297763:exon7:c.841delG:p.A283Pfs*36	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.648e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs746150300	6.158e-06	6.156e-06	6.807e-06	5.501e-06	7.195e-06	2.9e-06	2.1e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.195e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1464.94	89	chr19	40014188	.	TG	T	1464.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.467e+00;DP=981;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.46;ReadPosRankSum=-4.370e-01;SOR=0.639	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,102,1530	20	0	1	0
chr19	40015261	40015261	C	A	exonic	ZNF546	.	nonsynonymous SNV	ZNF546:NM_001297763:exon7:c.C1913A:p.P638H	.	.	411	1096	13	2	0	17	0.00769579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	0.653	D	3.2	M	0.43	T	-0.028	T	0.311	T	0.441	2.930	15.77	2.68	1.804	3.803	11.527	0.210	.	0.0035	0.00379393	0.0043	0.0012	0.0016	0	0.0044	0.0044	0.0055	0.0100	0.0042561	658	154602	rs142397727	0.0052	0.0052	0.0052	0.0053	0.0090	0.0051	0.0051	0.0084	0.0082	0.0010	0.0016	0.0077	0	0.0035	0.0047	0.0054	0.0052	0.0090	0.0035	0.0035	0.0035	0.0035	0.0097	0.0032	0.0031	0.0075	0.0067	0.0010	0	0.0021	0.0092	0	0.0035	0.0068	0.0048	0.0057	0.0097	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.653301	0.32984	D	2.09	0.57893	M	2.27	0.56772	T	-7.06	0.93879	D	0.414	0.45426	-0.0279	0.81675	T	0.311	0.68112	T	9	0.008543998	0.00194	T	.	.	.	0.210	0.50028	.	.	0.860167341092	0.85881	0.03879595108451441	0.03825	0.484137268567	0.47336	0.386950731277	0.23238	T	0.113869	0.43125	T	-0.364672	0.03873	T	-0.289354	0.45839	T	0.0383043435494674	0.03386	T	.	.	.	0.4752062	0.65609	0.47731093	0.69718	0.4752062	0.65609	0.47731093	0.69719	-9.59	0.71418	D	.	.	0.893	0.84006	P	.;.	.;.	3.101264	0.41800	21.4	0.99558160566288523	0.71583	0.86165	0.45394	D	AEFGBHCI	0.412693	0.48266	N	0.471918669536868	0.65458	4.824925	0.262871618795705	0.53386	3.507753	0.999386520617574	0.39415	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	2.68	2.68	0.30839	3.084000	0.49841	.	.	0.469000	0.21855	0.951000	0.33123	0.000000	0.08366	0.011000	0.09372	0.0:1.0:0.0:0.0	11.527	0.49836	769	0.49307	Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1665.98	46	chr19	40015261	.	C	A	1665.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.580e-01;DP=1004;ExcessHet=0.0000;FS=1.381;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.72;ReadPosRankSum=0.441;SOR=0.624	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,102,1530	20	0	1	0
chr19	40015288	40015288	C	T	exonic	ZNF546	.	nonsynonymous SNV	ZNF546:NM_001297763:exon7:c.C1940T:p.T647M	.	.	.	.	.	.	.	.	.	.	.	3361108	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.004	B	0.004	B	.	.	1.000	N	1.735	L	1.26	T	-0.993	T	0.075	T	0.131	-0.050	3.758	0.395	0.181	-0.316	5.335	0.021	0.00613130787757	.	.	.	.	.	.	.	.	.	.	.	.	.	rs941920679	1.915e-05	1.915e-05	2.042e-05	1.788e-05	0.0002	1.328e-05	1.144e-05	0.0001	7.816e-05	2.987e-05	0.0002	0	0.0001	1.872e-05	0	9.892e-06	1.656e-05	1.159e-05	1.316e-05	1.314e-05	1.286e-05	1.347e-05	0.0002	2.19e-06	8.2e-07	.	.	2.417e-05	0	0	0	0.0002	0	0	0	0	0	0.02	0.49613	D	0.017	0.60337	D	0.004	0.12183	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.725	0.18768	N	1.26	0.36330	T	-1.38	0.34198	N	0.073	0.05287	-0.9926	0.31933	T	0.075	0.30117	T	9	0.12815395	0.24376	T	0.006131	0.16052	T	0.021	0.04004	0.488	0.57257	0.343560092441	0.33966	0.02517770624857659	0.02468	0.0842060663455	0.09501	0.324194610119	0.14056	T	0.005334	0.04780	T	-0.473354	0.00810	T	-0.625568	0.10753	T	0.0354794620624607	0.02890	T	.	.	.	0.03306063	0.03450	0.038703963	0.03798	0.03306063	0.03450	0.038703963	0.03798	-7.979	0.60927	D	.	.	0.149	0.32992	B	.;.	.;.	1.508690	0.19383	14.24	0.95305808163981898	0.26632	0.04658	0.10332	N	AEFGBHCI	0.065629	0.12810	N	-0.949467425228378	0.09705	0.4604676	-1.01994484177979	0.09347	0.4644994	0.00109772286943897	0.08217	0.638212	0.43195	0	0.588066	0.40923	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	2.68	0.395	0.15527	-0.124000	0.10571	.	.	-0.376000	0.05418	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.7112:0.0:0.2888	5.335	0.15257	769	0.49307	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1213.98	46	chr19	40015288	.	C	T	1213.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.12;DP=967;ExcessHet=0.0000;FS=1.552;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=-2.610e-01;SOR=0.787	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,102,1530	20	0	1	0
chr19	40036594	40036594	A	G	exonic	ZNF780B	.	nonsynonymous SNV	ZNF780B:NM_001005851:exon5:c.T265C:p.S89P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.808	P	0.291	B	.	.	1.000	N	1.185	L	3.37	T	-0.971	T	0.012	T	0.157	1.402	10.62	-1.42	0.096	-0.140	3.031	0.036	0.00124951785875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.126e-07	6.841e-07	0	1.44e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292	0.14894	T	0.23	0.25135	T	0.808	0.45299	P	0.291	0.40706	B	.	.	.	.	1	0.08975	N	1.94	0.52218	M	3.37	0.05847	T	-2.55	0.55181	D	0.085	0.06322	-0.9708	0.37030	T	0.012	0.04605	T	9	0.13418186	0.25538	T	0.00125	0.01683	T	0.036	0.09122	0.408	0.44230	0.32580497728	0.32196	0.047423875993707516	0.04685	0.148946154099	0.16796	0.294180393219	0.09537	T	0.009996	0.09062	T	-0.269626	0.11798	T	-0.625076	0.10791	T	0.245249554514885	0.22659	T	.	.	.	0.232646	0.46055	0.23129308	0.48257	0.232646	0.46055	0.23129308	0.48256	-6.495	0.50248	T	.	.	0.075	0.05360	B	.;.	.;.	1.164794	0.15540	11.93	0.97258724073423508	0.33079	0.03590	0.08812	N	AEGBCI	0.025811	0.01832	N	-0.794581034009355	0.13451	0.6626923	-0.99534823248837	0.09889	0.4946839	0.00133405634904905	0.08454	0.706298	0.61202	0	0.709663	0.81188	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	2.44	-1.42	0.08446	-0.009000	0.12703	.	.	0.413000	0.20698	0.000000	0.06391	0.000000	0.08366	0.161000	0.20682	0.3099:0.0:0.455:0.2351	3.031	0.05738	784	0.47045	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	454.98	37	chr19	40036594	.	A	G	454.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.229e+00;DP=729;ExcessHet=0.0000;FS=1.571;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.69;ReadPosRankSum=-1.327e+00;SOR=1.262	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr19	40321974	40321974	G	A	exonic	C19orf47	.	nonsynonymous SNV	C19orf47:NM_001256440:exon9:c.C1177T:p.R393W	.	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.008	B	0.004	B	0.001	N	0.701	N	1.1	L	.	.	-0.961	T	0.090	T	0.182	3.913	19.90	3.02	1.255	1.152	7.834	0.032	0.00771445680627	0.0003	0.000599042	0.0005	0.0003	0	0.0014	0.0002	0.0005	0.0023	0.0004	0.0004075	63	154602	rs144463824	0.0002	0.0002	0.0002	0.0002	0.0008	0.0002	0.0002	0.0005	0.0005	0.0001	0	0.0049	0.0008	0.0003	0	6.296e-05	0.0006	0.0004	0.0003	0.0003	0.0003	0.0003	0.0019	0.0002	0.0002	0.0010	0.0008	0.0002	0	0	0.0040	0.0019	0.0005	0	5.88e-05	0	0.0008	0.007	0.59928	D	0.004	0.74150	D	0.008	0.14655	B	0.004	0.10090	B	0.000894	0.41231	N	0.237591	0.700507	0.30108	N	1.87	0.49600	L	.	.	.	-2.46	0.53736	N	0.121	0.15609	-0.9613	0.38936	T	0.090	0.34628	T	9	0.0066946745	0.00152	T	0.007714	0.20457	T	0.032	0.07718	.	.	0.082315109003	0.07666	0.3805272973163311	0.37967	0.314831118833	0.33766	.	.	.	0.022581	0.17383	T	-0.376029	0.03300	T	-0.402071	0.33143	T	0.0533019064023597	0.06071	T	0.90061	0.65471	D	0.08812199	0.20546	0.12644067	0.30453	0.08812199	0.20546	0.12644067	0.30452	-6.06	0.46778	T	.	.	0.085	0.13737	B	.;.	.;.	4.457302	0.69343	25.4	0.9991765125091977	0.98518	0.87015	0.46431	D	AEFBI	0.488319	0.52670	N	-0.200054493944892	0.33132	1.876289	-0.0497881220512179	0.37500	2.196456	1.83421554705185E-4	0.05844	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.36	3.02	0.33970	1.259000	0.32559	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0911:0.0:0.658:0.2508	7.834	0.28521	725	0.54935	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2426.08	34	chr19	40321974	.	G	A	2426.08	.	AC=2;AF=0.048;AN=42;DP=784;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.59;SOR=1.367	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	20	1	0	0
chr19	40374500	40374500	G	A	exonic	PLD3	.	nonsynonymous SNV	PLD3:NM_001031696:exon10:c.G899A:p.C300Y	.	.	413	1104	4	1	0	6	0.00271003	.	.	2106767	not_provided|PLD3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.723	P	0.841	P	0.000	D	1.000	D	2.955	M	0.86	T	-0.418	T	0.334	T	0.768	4.511	24.3	6.08	2.894	5.894	13.706	0.385	0.0275957947642	0.0007	0.000199681	0.0009	0.0003	0.0010	0	0.0002	0.0012	0	0.0013	0.0008473	131	154602	rs146083475	0.0006	0.0006	0.0005	0.0006	0.0031	0.0005	0.0005	0.0020	0.0017	0.0001	0.0005	0.0082	0	1.873e-05	0.0031	0.0004	0.0009	0.0010	0.0005	0.0005	0.0005	0.0005	0.0006	0.0004	0.0004	0.0004	0.0003	2.406e-05	0	0.0003	0.0072	0	0	0.0136	0.0005	0.0005	0.0006	0.002	0.72154	D	0.008	0.67890	D	0.723	0.42412	P	0.841	0.60228	P	0.000000	0.84330	D	0.045848	0.999985	0.54805	D	3.115	0.87836	M	0.86	0.46777	T	-6.85	0.93097	D	0.867	0.86404	-0.4180	0.71456	T	0.334	0.70134	T	10	0.049577415	0.04567	T	0.027596	0.50390	D	0.385	0.70194	.	.	0.740592746267	0.73827	0.9034438134770669	0.90317	1.5269052154	0.87516	0.826454758644	0.86018	D	0.35858	0.72511	T	-0.176797	0.24213	T	-0.0722853	0.65464	T	0.114248189813283	0.13859	T	0.948505	0.80194	D	0.8974716	0.91158	0.92826766	0.96975	0.8974716	0.91159	0.92826766	0.96975	-9.292	0.69557	D	.	.	0.900	0.82768	P	.;.;.;.;.	.;.;.;.;.	5.389127	0.90289	31	0.99823633192832395	0.90590	0.98323	0.81627	D	AEFDBI	0.923037	0.89892	D	0.799278552719836	0.86061	8.766069	0.807773248449009	0.90330	10.358	0.999508322816039	0.40062	0.706298	0.61202	0	0.709663	0.81188	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.08	6.08	0.98982	5.291000	0.65468	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1542:0.8458:0.0	13.706	0.62119	702	0.57624	PLD-like domain;PLD-like domain;PLD-like domain;PLD-like domain;PLD-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	952.98	34	chr19	40374500	.	G	A	952.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.153e+00;DP=773;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=0.191;SOR=0.702	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr19	40394856	40394856	G	A	exonic	PRX	.	nonsynonymous SNV	PRX:NM_181882:exon7:c.C3496T:p.P1166S,	Charcot-Marie-Tooth disease, type 4F, Autosomal recessive;Dejerine-Sottas disease, Autosomal recessive, Autosomal dominant	.	0	1514	8	0	0	8	0.00263505	.	.	213454	Charcot-Marie-Tooth_disease_type_4F|Charcot-Marie-Tooth_disease|Inborn_genetic_diseases|not_provided|Charcot-Marie-Tooth_disease_type_4|not_specified	MONDO:MONDO:0013959,MedGen:C3540453,OMIM:614895,Orphanet:99952|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.44	T	0.009	B	0.007	B	0.848	N	1.000	N	0.805	L	5.43	T	-0.899	T	0.003	T	0.046	-0.677	1.046	0.776	0.067	-0.323	4.569	0.014	0.00462180957516	0.0007	0.000399361	0.0012	9.962e-05	0.0007	0	0	0.0019	0.0023	0.0005	0.0011255	174	154602	rs147826200	0.0011	0.0011	0.0011	0.0011	0.0047	0.0011	0.0010	0.0033	0.0028	0.0003	0.0009	3.826e-05	0	0.0002	0.0047	0.0013	0.0009	0.0003	0.0009	0.0009	0.0010	0.0008	0.0018	0.0008	0.0008	0.0013	0.0011	0.0003	0	0.0018	0	0	9.42e-05	0	0.0014	0	0.0008	0.25	0.17126	T	0.101	0.38596	T	0.009	0.15093	B	0.007	0.12992	B	0.848367	0.07041	N	1.087950	1	0.08975	N	1.24	0.30952	L	5.43	0.00989	T	-1.13	0.29114	N	0.053	0.02462	-0.8990	0.48094	T	0.003	0.00897	T	10	0.01178664	0.00256	T	0.004622	0.11440	T	0.014	0.01968	.	.	0.221019684889	0.21715	0.042971631696547656	0.04242	0.690809737265	0.60557	0.296810001135	0.09927	T	0.156544	0.49875	T	-0.679376	0.00048	T	-0.773281	0.02662	T	0.171787962317467	0.18701	T	0.49875	0.15541	T	0.0609509	0.12567	0.04947828	0.07568	0.0609509	0.12567	0.04947828	0.07567	-3.6	0.17857	T	0.14197933643532915	0.16020	0.061	0.01042	B	.	.	-0.558396	0.01688	0.122	0.46566599529453523	0.03740	0.11383	0.16597	N	AEFBI	0.078979	0.15945	N	-1.04436264278067	0.07699	0.3585271	-1.07136140826458	0.08268	0.4057676	2.71962854479544E-5	0.03498	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.67	0.776	0.17676	-0.455000	0.06837	.	.	0.662000	0.56354	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2513:0.1715:0.5772:0.0	4.569	0.11595	754	0.51307	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1669.98	125	chr19	40394856	.	G	A	1669.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.54;DP=954;ExcessHet=0.0000;FS=0.662;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.36;ReadPosRankSum=-2.008e+00;SOR=0.793	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1270	20	0	1	0
chr19	40396784	40396784	A	G	exonic	PRX	.	nonsynonymous SNV	PRX:NM_181882:exon7:c.T1568C:p.L523P,	Charcot-Marie-Tooth disease, type 4F, Autosomal recessive;Dejerine-Sottas disease, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	349863	Inborn_genetic_diseases|Charcot-Marie-Tooth_disease_type_4F|Charcot-Marie-Tooth_disease_type_4	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013959,MedGen:C3540453,OMIM:614895,Orphanet:99952|MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.006	N	1.000	N	-2.215	N	4.44	T	-0.915	T	0.002	T	0.101	-1.029	0.220	1.9	0.370	0.748	7.784	0.025	0.00187235728064	.	0.000399361	4.188e-05	0.0001	0	0	0	0	0	0.0002	7.68e-05	2	26028	rs550446238	1.872e-05	3.42e-05	1.518e-05	2.229e-05	0.0002	1.282e-05	1.099e-05	9.981e-05	7.987e-05	3.047e-05	4.752e-05	0	2.588e-05	1.886e-05	0	5.449e-06	3.384e-05	0.0002	0.0003	0.0006	0.0002	0.0004	0.0007	0.0002	0.0002	0.0003	0.0002	0.0005	0.0023	0	0	0.0007	0.0008	0	0.0001	0	0.0007	0.213	0.19430	T	0.414	0.14369	T	0.0	0.02946	B	0.0	0.01387	B	0.006204	0.32193	N	0.144240	0.999999	0.08975	N	-2.515	0.00055	N	4.44	0.02139	T	3.36	0.00099	N	0.082	0.05799	-0.9147	0.46259	T	0.002	0.00526	T	10	0.013767213	0.00291	T	0.001872	0.03272	T	0.025	0.05312	.	.	0.141422826196	0.13715	0.0888080930056007	0.08813	0.358169936136	0.37530	0.334310591221	0.15584	T	0.054246	0.29669	T	-0.458171	0.01009	T	-0.711892	0.05199	T	0.0281035651205104	0.01703	T	0.294071	0.05417	T	0.05819368	0.11677	0.08367596	0.19194	0.05819368	0.11677	0.08367596	0.19194	2.898	0.00023	T	.	.	0.031	0.00001	B	.	.	0.043170	0.04589	1.264	0.56623206213519695	0.05592	0.00196	0.01131	N	AEFBI	0.026018	0.01879	N	-1.49490234655684	0.01886	0.08273223	-1.34381341161578	0.03879	0.1818628	0.0251342608522216	0.13628	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.06	1.9	0.24770	1.115000	0.30823	.	.	-0.699000	0.04065	0.058000	0.21700	0.006000	0.19429	0.003000	0.05239	0.2047:0.0:0.7953:0.0	7.784	0.28243	754	0.51307	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	6859.98	38	chr19	40396784	.	A	G	6859.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.430e+00;DP=1380;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.68;MQRankSum=-4.378e+00;QD=11.67;ReadPosRankSum=-2.020e-01;SOR=0.643	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr19	40502285	40502285	C	T	exonic	SPTBN4	.	nonsynonymous SNV	SPTBN4:NM_020971:exon9:c.C1055T:p.T352M,	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.931	P	0.539	P	0.243	U	1.000	D	1.15	L	-0.31	T	-0.682	T	0.228	T	0.23	2.012	12.69	2.38	1.017	0.041	10.438	0.180	0.0447817945054	0.0002	.	0.0004	0.0002	8.651e-05	0.0001	0	3.044e-05	0	0.0022	0.0002781	43	154602	rs145963269	0.0001	0.0001	6.144e-05	0.0002	0.0014	9.496e-05	8.976e-05	0.0012	0.0011	8.988e-05	4.483e-05	0	2.529e-05	0	0.0002	2.253e-05	0.0001	0.0014	5.279e-05	5.265e-05	5.16e-05	5.404e-05	0.0004	2.567e-05	1.837e-05	7.384e-05	3.064e-05	7.26e-05	0	0	0	0.0002	0	0	2.945e-05	0	0.0004	0.001	0.78490	D	0.004	0.74150	D	0.892	0.49086	P	0.521	0.48239	P	0.243438	0.15662	U	0.517494	0.814314	0.34685	D	1.59	0.40313	L	-0.31	0.68030	T	-2.78	0.58896	D	0.149	0.22098	-0.6823	0.61266	T	0.228	0.59296	T	10	0.02157709	0.00519	T	0.044782	0.61661	D	0.180	0.45073	.	.	0.594367484798	0.59114	0.5732398421475895	0.57252	.	.	0.659690260887	0.61365	T	0.054317	0.72541	T	-0.421825	0.01665	T	-0.391929	0.34327	T	0.0556229141214822	0.06461	T	0.890411	0.62412	D	0.16672449	0.37025	0.24875383	0.50432	0.16672449	0.37025	0.24875383	0.50431	-8.311	0.63169	D	.	.	0.131	0.45236	B	.;.;.;.;.	.;.;.;.;.	3.639688	0.51603	23.1	0.99179004791953451	0.54614	0.30296	0.24046	N	AEFDBI	0.363633	0.45246	N	-0.179620983580144	0.33984	1.934385	-0.270699571094925	0.29068	1.62567	0.265667671713781	0.18838	0.553676	0.25195	0	0.588015	0.36545	0	0.563428	0.18855	0	0.567892	0.33627	0	.	.	3.42	2.38	0.28415	-0.152000	0.10145	.	.	0.549000	0.26987	0.000000	0.06391	0.067000	0.22148	0.662000	0.33024	0.0:0.8965:0.0:0.1035	10.438	0.43636	716	0.55970	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1264.98	37	chr19	40502285	.	C	T	1264.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.018;DP=834;ExcessHet=0.0000;FS=5.382;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.06;ReadPosRankSum=-6.700e-01;SOR=1.251	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,111,1665	20	0	1	0
chr19	40570643	40570643	C	A	exonic	SPTBN4	.	nonsynonymous SNV	SPTBN4:NM_020971:exon33:c.C7234A:p.P2412T,	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.948	P	0.487	P	0.001	U	1.000	D	0.805	L	1.62	T	-1.095	T	0.066	T	0.338	1.774	11.89	4.47	2.322	7.108	14.164	0.129	0.0454489835029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.163e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416	0.09958	T	0.052	0.47581	T	0.023	0.18885	B	0.029	0.21540	B	0.000831	0.41547	U	0.095731	0.859878	0.28899	N	2.05	0.56469	M	1.62	0.28189	T	-1.88	0.43906	N	0.313	0.42931	-1.0947	0.04795	T	0.066	0.27364	T	10	0.2157076	0.38131	T	0.045449	0.61984	D	0.129	0.35316	0.324	0.30549	0.520161069619	0.51660	0.519124276232299	0.51835	.	.	0.826809287071	0.86074	D	0.020891	0.54018	T	-0.115741	0.33822	T	-0.40403	0.32915	T	0.899817109107971	0.55220	D	0.840916	0.51656	T	0.23246069	0.46034	0.24262674	0.49688	0.23246069	0.46034	0.24262674	0.49687	-4.972	0.36534	T	.	.	0.091	0.18787	B	.;.;.;.	.;.;.;.	3.639846	0.51603	23.1	0.96283359082445996	0.29289	0.93749	0.59081	D	ALL	0.585793	0.58408	D	0.0756035411718315	0.45325	2.791053	0.159163284670577	0.47628	2.990335	1.0	0.98316	0.437478	0.07067	0	0.606814	0.50340	0	0.503968	0.08637	0	0.56214	0.19341	0	.	.	4.47	4.47	0.53770	6.526000	0.73708	.	.	0.467000	0.21759	0.992000	0.37556	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	14.164	0.65000	744	0.52588	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1223.98	34	chr19	40570643	.	C	A	1223.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.634;DP=830;ExcessHet=0.0000;FS=0.765;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=-1.013e+00;SOR=0.804	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1070	20	0	1	0
chr19	40572136	40572136	G	C	exonic	SPTBN4	.	nonsynonymous SNV	SPTBN4:NM_020971:exon34:c.G7437C:p.K2479N,	.	.	419	1100	3	0	0	3	0.00136178	.	.	728194	not_provided|SPTBN4-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.32	T	0.001	B	0.003	B	0.006	U	1.000	D	-1.005	N	1.57	T	-1.033	T	0.009	T	0.041	1.547	11.13	0.19	0.290	-0.233	1.026	0.040	.	0.0068	0.0081869	0.0030	0.0175	0.0007	0	0.0002	0.0013	0.0011	0.0055	0.0028395	439	154602	rs150725660	0.0013	0.0013	0.0012	0.0014	0.0163	0.0012	0.0012	0.0152	0.0147	0.0163	0.0010	0.0221	0	7.494e-05	0.0019	0.0001	0.0029	0.0044	0.0053	0.0053	0.0053	0.0053	0.0156	0.0050	0.0049	0.0146	0.0142	0.0156	0	0.0028	0.0182	0	0.0004	0	0.0003	0.0019	0.0050	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.006347	0.32094	U	0.204861	0.506023	0.32184	D	-1.59	0.00435	N	1.57	0.29342	T	0.44	0.03243	N	0.254	0.34336	-1.0326	0.19618	T	0.009	0.03271	T	10	0.0031417012	0.00052	T	.	.	.	0.040	0.10527	0.484	0.56621	0.178374595973	0.17440	0.22154337601812357	0.22069	.	.	0.530025839806	0.43038	T	0.00229	0.36568	T	-0.717562	0.00029	T	-0.789879	0.02168	T	0.0153562222609346	0.00342	T	0.572743	0.20478	T	0.04758623	0.08158	0.04087529	0.04519	0.03104318	0.02873	0.036535412	0.03119	-2.256	0.04321	T	.	.	0.145	0.43158	B	.;.;.;.	.;.;.;.	1.624941	0.20752	14.89	0.98177518553873799	0.38916	0.16356	0.19351	N	AEFBI	0.170118	0.29699	N	-1.03815096443109	0.07821	0.3646875	-0.875245870185886	0.12682	0.6537782	0.999590305562943	0.40745	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.98	0.19	0.14406	-0.470000	0.06717	.	.	-0.127000	0.13314	0.000000	0.06391	0.987000	0.30940	0.995000	0.73285	0.3687:0.1385:0.3345:0.1584	1.026	0.01433	744	0.52588	Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	1885.98	50	chr19	40572136	.	G	C	1885.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.256e+00;DP=1188;ExcessHet=0.0000;FS=12.935;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.25;ReadPosRankSum=1.35;SOR=1.404	GT:AD:DP:GQ:PL	0/0:83,0:83:99:0,120,1800	20	0	1	0
chr19	40627738	40627738	C	T	exonic	LTBP4	.	nonsynonymous SNV	LTBP4:NM_001042545:exon29:c.C4400T:p.A1467V	Cutis laxa, autosomal recessive, type IC, Autosomal recessive	.	1	1519	2	0	0	2	0.000657895	.	.	507803	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	1	T	0.988	D	0.723	P	0.389	N	1.000	D	.	.	-1.55	D	-0.545	T	0.210	T	0.291	3.668	18.64	3.57	1.108	4.578	12.719	0.423	.	0.0068	0.0061901	0.0034	0.0369	0.0015	0.0004	0.0009	0	0	0	0.0015524	240	154602	rs148715056	0.0007	0.0007	0.0008	0.0006	0.0247	0.0006	0.0006	0.0233	0.0227	0.0247	0.0009	0	0	1.988e-05	0.0014	8.142e-06	0.0013	6.02e-05	0.0066	0.0066	0.0068	0.0064	0.0235	0.0063	0.0062	0.0223	0.0218	0.0235	0	0.0016	0	0	9.414e-05	0.0034	1.47e-05	0.0024	0.0002	.	.	.	0.004	0.74150	D	0.923	0.51194	P	0.3	0.41053	B	0.389241	0.13279	N	0.614416	0.990024	0.41071	D	.	.	.	.	.	.	.	.	.	0.501	0.53357	-0.5455	0.66956	T	0.210	0.57054	T	9	0.0077299178	0.00175	T	.	.	.	0.423	0.73152	.	.	0.377143385212	0.37329	0.7978051752814448	0.79733	0.794935810401	0.66003	0.547647833824	0.45525	T	0.194888	0.75918	T	-0.416311	0.01806	T	-0.353193	0.38839	T	0.0233161398371151	0.01061	T	0.947205	0.84482	D	0.06545577	0.13989	0.118936144	0.28709	0.0611012	0.12614	0.10507422	0.25251	-8.754	0.66099	D	.	.	0.165	0.45211	B	.;.;.;.	.;.;.;.	3.248993	0.44386	21.9	0.99835402700738229	0.91628	0.96725	0.70606	D	AEFDBCI	0.767950	0.70365	D	0.0906392315147007	0.46027	2.849528	0.119157687828386	0.45529	2.814479	0.997171353117234	0.35344	0.634777	0.41761	0	0.643519	0.57511	0	0.606735	0.37207	0	0.562822	0.20929	0	.	.	4.65	3.57	0.40014	3.154000	0.50391	.	.	0.599000	0.40250	0.976000	0.34826	0.971000	0.29754	0.949000	0.49496	0.1663:0.8337:0.0:0.0	12.719	0.56500	749	0.51929	EGF-like domain|EGF-like calcium-binding domain;EGF-like domain|EGF-like calcium-binding domain;.;EGF-like domain|EGF-like calcium-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	713.98	40	chr19	40627738	.	C	T	713.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.566;DP=759;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=-1.184e+00;SOR=0.697	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1176	20	0	1	0
chr19	40667990	40667993	CTGT	0	exonic	NUMBL	.	.	.	.	.	0	27	2	1	196	200	0.0689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	778.0	37	chr19	40667990	.	CTGT	*,C	778.0	.	AC=25,1;AF=0.595,0.024;AN=42;DP=1037;ExcessHet=0.3152;FS=2.665;InbreedingCoeff=0.2195;MLEAC=25,1;MLEAF=0.595,0.024;MQ=60.00;QD=0.91;SOR=0.513	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,48,0:48:99:1|1:40667975_C_T:2074,144,0,2074,144,2074:40667975	4	8	8	0
chr19	40744680	40744680	G	A	exonic	C19orf54	.	nonsynonymous SNV	C19orf54:NM_001353805:exon4:c.C4T:p.R2W,	.	.	420	1058	41	3	0	47	0.0217291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.002	B	0.001	B	.	.	1.000	N	.	.	.	.	-0.990	T	0.090	T	.	3.183	16.65	-9.34	-1.768	-1.380	19.119	0.207	.	0.0037	0.00738818	0.0084	0.0005	0.0028	0.0001	0.0028	0.0053	0.0074	0.0413	0.0071603	1107	154602	rs73047039	0.0057	0.0057	0.0046	0.0067	0.0342	0.0056	0.0055	0.0332	0.0328	0.0005	0.0019	0.0123	5.043e-05	0.0021	0.0157	0.0039	0.0061	0.0342	0.0038	0.0038	0.0036	0.0039	0.0325	0.0035	0.0034	0.0284	0.0268	0.0007	0	0.0020	0.0121	0.0002	0.0029	0.0204	0.0040	0.0033	0.0325	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.32	0.36043	-0.9902	0.32551	T	0.090	0.34573	T	7	0.004359305	0.00089	T	.	.	.	.	.	.	.	0.0611884634855	0.05136	.	.	.	.	.	.	.	.	.	.	-0.685291	0.00045	T	-0.731387	0.04265	T	0.0130569372381809	0.00228	T	0.636336	0.25008	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.29697	B	.	.	0.138148	0.05325	1.814	0.994728603804239	0.66419	0.01489	0.04946	N	ALL	0.047537	0.08015	N	-1.28611122526482	0.03842	0.1723511	-1.39020398705293	0.03355	0.1563541	0.999999999997689	0.74766	0.839682	0.99964	0	0.643519	0.57511	0	0.736553	0.94036	0	0.699908	0.69081	0	.	.	5.56	-9.34	0.00539	-1.494000	0.02401	.	.	-0.263000	0.06870	0.000000	0.06391	0.000000	0.08366	0.343000	0.25501	0.8088:0.0:0.1912:0.0	19.119	0.93338	493	0.76500	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	479.98	27	chr19	40744680	.	G	A	479.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.503e+00;DP=714;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=1.86;SOR=0.555	GT:AD:DP:GQ:PL	0/0:28,0:28:78:0,78,1170	20	0	1	0
chr19	40749800	40749800	T	C	exonic	C19orf54	.	nonsynonymous SNV	C19orf54:NM_001353806:exon1:c.A4G:p.T2A	.	.	419	1074	28	1	0	30	0.0137741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.0	B	0.001	B	.	.	0.958	D	0.69	N	.	.	-1.071	T	0.085	T	0.106	3.106	16.38	1.97	0.242	1.925	5.239	0.071	.	.	0.00459265	0.0066	0	0.0091	0	0	0.0040	0.0217	0.0397	0.0012031	186	154602	rs77405258	0.0032	0.0031	0.0027	0.0037	0.0214	0.0031	0.0030	0.0205	0.0201	0.0005	0.0015	0.0019	5.896e-05	0.0017	0.0129	0.0022	0.0043	0.0214	0.0023	0.0023	0.0021	0.0024	0.0166	0.0021	0.0020	0.0137	0.0126	0.0003	0	0.0009	0.0012	0	0.0010	0.0068	0.0032	0.0043	0.0166	0.106	0.29688	T	0.686	0.05995	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.958332	0.38070	D	1.39	0.34934	L	.	.	.	-0.12	0.08809	N	0.068	0.04072	-1.0706	0.09282	T	0.085	0.33071	T	8	0.005978763	0.00134	T	.	.	.	0.071	0.20720	.	.	0.0401082797425	0.02173	0.17448304156321293	0.17367	0.0655047151774	0.07310	.	.	.	0.014124	0.12084	T	-0.56184	0.00247	T	-0.563565	0.16044	T	0.00801682386829881	0.00095	T	0.292471	0.05369	T	0.047277898	0.08055	0.06292982	0.12389	0.047277898	0.08055	0.06292982	0.12389	-1.865	0.02710	T	.	.	0.074	0.05188	B	.	.	2.192509	0.27955	17.64	0.95269432342691551	0.26549	0.62380	0.31764	D	AEFDGBHCI	0.108007	0.21501	N	-0.618643317104922	0.18384	0.9540536	-0.55448913479412	0.20687	1.115675	0.999999828014593	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.627883	0.49187	0	.	.	4.15	1.97	0.25278	2.188000	0.42243	.	.	0.665000	0.62972	0.999000	0.42656	0.998000	0.33993	0.641000	0.32449	0.0:0.2675:0.0:0.7325	5.239	0.14782	488	0.76887	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2855.11	83	chr19	40749800	.	T	C	2855.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.18;DP=1629;ExcessHet=0.1072;FS=1.034;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=1.87;SOR=0.611	GT:AD:DP:GQ:PL	0/0:104,0:104:99:0,120,1800	19	0	2	0
chr19	40800650	40800650	G	C	exonic	EGLN2	.	nonsynonymous SNV	EGLN2:NM_053046:exon2:c.G78C:p.E26D	.	.	417	1085	20	0	0	20	0.00913242	.	.	741905	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.25	T	.	.	.	.	0.005	N	0.991	N	0.345	N	1.94	T	-1.021	T	0.026	T	0.155	0.690	7.686	0.046	0.132	0.170	.	0.025	.	0.0006	0.00399361	0.0028	9.917e-05	0.0004	0.0001	0.0002	0.0008	0.0047	0.0163	0.0024515	379	154602	rs73047080	0.0014	0.0014	0.0010	0.0019	0.0152	0.0014	0.0014	0.0145	0.0142	0.0001	0.0002	0.0043	0	7.512e-05	0.0069	0.0005	0.0017	0.0152	0.0009	0.0009	0.0009	0.0009	0.0147	0.0008	0.0007	0.0120	0.0110	0.0001	0	0.0003	0.0020	0	0	0.0136	0.0006	0.0014	0.0147	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.005365	0.32858	N	0.200262	0.990905	0.24109	N	0.55	0.14455	N	1.94	0.22678	T	-0.13	0.08971	N	0.129	0.12341	-1.0206	0.23519	T	0.026	0.11264	T	7	0.003999889	0.00077	T	.	.	.	0.025	0.05312	0.117	0.02508	0.456647468687	0.45291	0.11087046075374986	0.11016	0.508924225675	0.49035	0.592218577862	0.51808	T	0.261926	0.63345	T	-0.550966	0.00288	T	-0.551227	0.17209	T	0.0171338292415777	0.00458	T	0.469553	0.13966	T	0.10713312	0.25332	0.10244342	0.24554	0.10713312	0.25331	0.10244342	0.24554	-4.025	0.24177	T	.	.	0.116	0.26762	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.216571	0.28284	17.75	0.97879448873417629	0.36594	0.20637	0.21114	N	AEFDBCI	0.101483	0.20381	N	-0.605174886077519	0.18788	0.97824	-0.699690217910423	0.16968	0.9001154	0.999998765061	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.657601	0.63696	0	.	.	0.046	0.046	0.13572	0.171000	0.16497	.	.	0.171000	0.17763	0.368000	0.25908	0.999000	0.35428	0.907000	0.44265	.	.	.	507	0.75469	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	664.98	34	chr19	40800650	.	G	C	664.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.010e+00;DP=776;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.87;ReadPosRankSum=-3.840e-01;SOR=0.588	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,993	20	0	1	0
chr19	40849872	40849872	C	T	exonic	CYP2A6	.	nonsynonymous SNV	CYP2A6:NM_000762:exon2:c.G289A:p.E97K,	Coumarin resistance, Autosomal dominant	.	0	1496	26	0	0	26	0.00861498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.991	D	0.929	D	0.000	U	0.727	N	2.05	M	-0.42	T	-0.354	T	0.382	T	0.259	3.035	16.13	2.72	1.336	6.817	9.293	0.358	.	0.0019	0.00519169	0.0046	0.0005	0.0020	0	0.0002	0.0022	0.0077	0.0227	0.0040879	632	154602	rs145308399	0.0033	0.0033	0.0026	0.0039	0.0226	0.0032	0.0031	0.0217	0.0214	0.0003	0.0021	0.0075	0	0.0001	0.0039	0.0021	0.0032	0.0226	0.0022	0.0022	0.0019	0.0025	0.0209	0.0020	0.0019	0.0175	0.0163	0.0005	0	0.0022	0.0066	0	0.0004	0.0068	0.0021	0.0043	0.0209	0.043	0.41364	D	0.102	0.38450	T	.	.	.	.	.	.	0.000003	0.62929	U	0.058866	0.726809	0.29868	N	.	.	.	-0.42	0.69536	T	-2.23	0.50012	N	0.464	0.50056	-0.3536	0.73449	T	0.382	0.73855	T	10	0.02225554	0.00551	T	.	.	.	0.358	0.67872	.	.	0.829954242899	0.82834	0.49470264108886136	0.49391	0.452566574264	0.44973	0.493819057941	0.37969	T	.	.	.	-0.352056	0.04598	T	-0.284647	0.46326	T	0.0487354988149106	0.05275	T	0.823018	0.48339	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.370	0.57847	A	.	.	3.674582	0.52266	23.2	0.99879607470037846	0.95572	0.97730	0.76719	D	AEFBI	0.798375	0.72494	D	0.345603181256222	0.58507	4.023427	0.21264490637761	0.50547	3.245732	0.0640365216161682	0.15316	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.616125	0.45549	0	.	.	2.72	2.72	0.31179	7.104000	0.76667	.	.	0.275000	0.18574	1.000000	0.71638	0.992000	0.31684	0.022000	0.11911	0.0:0.7763:0.2237:0.0	9.293	0.36958	528	0.73785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2071.98	35	chr19	40849872	.	C	T	2071.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.820e-01;DP=991;ExcessHet=0.0000;FS=4.002;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.91;MQRankSum=2.68;QD=10.26;ReadPosRankSum=-4.260e-01;SOR=0.481	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1160	20	0	1	0
chr19	40876638	40876638	C	T	exonic	CYP2A7	.	nonsynonymous SNV	CYP2A7:NM_030589:exon7:c.G1039A:p.V347M	.	.	3	1495	23	1	0	25	0.00829187	.	.	2808714	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.989	D	0.000	U	0.875	N	1.885	L	-0.39	T	-0.571	T	0.297	T	0.273	2.172	13.22	1.03	0.214	1.427	9.675	0.301	0.0211865437845	0.0048	0.000998403	0.0041	0.0007	0.0022	0	0.0024	0.0063	0.0066	0.0017	0.0039262	607	154602	rs138869707	0.0047	0.0047	0.0046	0.0048	0.0054	0.0046	0.0046	0.0050	0.0049	0.0006	0.0030	0.0138	2.519e-05	0.0032	0.0054	0.0051	0.0064	0.0016	0.0040	0.0040	0.0041	0.0038	0.0059	0.0037	0.0036	0.0051	0.0049	0.0008	0	0.0059	0.0130	0	0.0034	0.0137	0.0056	0.0076	0.0008	0.007	0.78490	D	0.006	0.70582	D	1.0	0.90584	D	0.958	0.71005	D	0.000002	0.62929	U	0.000000	0.874761	0.28148	N	3.3	0.90472	M	-0.39	0.69158	T	-2.37	0.52289	N	0.6	0.61849	-0.5710	0.65975	T	0.297	0.66858	T	10	0.018483907	0.00403	T	0.021187	0.43920	T	0.301	0.62179	.	.	0.621965656393	0.61889	0.3189579386612236	0.31808	0.417512201385	0.42368	0.528957486153	0.42887	T	0.022676	0.17443	T	-0.346878	0.04925	T	-0.2694	0.47879	T	0.0679574926277712	0.08361	T	0.90141	0.65732	D	0.46873435	0.65212	0.5499202	0.73977	0.46873435	0.65213	0.5499202	0.73978	-8.84	0.66661	D	.	.	0.321	0.54558	B	.;.	.;.	3.183702	0.43231	21.7	0.9973877714874223	0.83337	0.63272	0.32038	D	AEFDBCI	0.285685	0.39825	N	-0.0741509742085061	0.38529	2.257997	-0.284548861514484	0.28606	1.596326	0.173969494644633	0.17776	0.549168	0.22868	0	0.563428	0.19063	0	0.590023	0.30420	0	0.530356	0.10902	0	.	.	2.18	1.03	0.19161	2.273000	0.43041	.	.	0.311000	0.19140	0.436000	0.26456	0.000000	0.08366	0.069000	0.16583	0.0:0.7847:0.2153:0.0	9.675	0.39201	564	0.70960	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2108.98	37	chr19	40876638	.	C	T	2108.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.75;DP=962;ExcessHet=0.0000;FS=5.034;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.78;MQRankSum=-1.580e+00;QD=14.06;ReadPosRankSum=-1.363e+00;SOR=1.106	GT:AD:DP:GQ:PL	0/1:68,82:150:99:2123,0,1417	20	0	1	0
chr19	41088574	41088574	C	T	exonic	CYP2A13	.	nonsynonymous SNV	CYP2A13:NM_000766:exon1:c.C103T:p.P35S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.000	U	0.706	N	2.88	M	3.04	T	-0.966	T	0.080	T	0.425	3.172	16.61	3.33	1.870	6.432	12.584	0.259	0.0126610822503	.	.	1.648e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs758313603	2.052e-06	2.052e-06	0	4.125e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	1.315e-05	1.313e-05	1.285e-05	1.346e-05	2.414e-05	2.18e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	1.47e-05	0	0	0.015	0.52492	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	U	0.000000	0.705871	0.30060	N	4.26	0.98092	H	3.04	0.08810	T	-7.15	0.94096	D	0.553	0.57860	-0.9658	0.38053	T	0.080	0.31556	T	10	0.8185618	0.81076	D	0.012661	0.31427	T	0.259	0.57090	0.739	0.87147	0.354396617058	0.35051	0.6415366403297469	0.64088	0.514435909998	0.49391	0.499216914177	0.38719	T	0.301063	0.67353	T	-0.10241	0.36026	T	-0.369395	0.36960	T	0.963943541049957	0.66809	D	0.770723	0.40088	T	0.77332854	0.82247	0.5548636	0.74255	0.77332854	0.82249	0.5548636	0.74256	-8.179	0.62283	D	.	.	0.269	0.50297	B	.	.	4.261532	0.64772	24.7	0.99874823296726667	0.95160	0.98168	0.80190	D	AEFDGBI	0.529047	0.55032	D	0.531677587277803	0.68975	5.291629	0.364867867924015	0.59410	4.118382	0.99026862754185	0.32094	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	3.33	3.33	0.37245	7.004000	0.76068	7.311000	0.58126	0.571000	0.28931	1.000000	0.71638	1.000000	0.68203	0.080000	0.17246	0.0:1.0:0.0:0.0	12.584	0.55756	730	0.54327	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3757.98	38	chr19	41088574	.	C	T	3757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.869;DP=889;ExcessHet=0.0000;FS=2.549;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.86;MQRankSum=-9.040e-01;QD=20.65;ReadPosRankSum=0.480;SOR=0.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1210	20	0	1	0
chr19	41088575	41088575	C	T	exonic	CYP2A13	.	nonsynonymous SNV	CYP2A13:NM_000766:exon1:c.C104T:p.P35L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.982	D	0.000	U	0.996	D	3.34	M	3.02	T	-0.904	T	0.091	T	0.485	3.209	16.75	3.33	1.870	6.432	12.584	0.264	0.0176822178552	.	.	3.295e-05	0	0.0002	0	0	2.997e-05	0	0	2.59e-05	4	154602	.	3.284e-05	3.283e-05	3.54e-05	3.025e-05	0.0007	2.543e-05	2.249e-05	0.0002	0.0001	2.988e-05	4.472e-05	0	5.038e-05	7.488e-05	0.0007	2.968e-05	3.312e-05	0	2.629e-05	2.627e-05	2.57e-05	2.691e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.414e-05	0	0	0	0	0	0	4.41e-05	0	0	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	0.982	0.75477	D	0.000000	0.84330	U	0.000000	0.995912	0.42920	D	3.635	0.94052	H	3.02	0.08986	T	-9.01	0.98126	D	0.55	0.57604	-0.9044	0.47515	T	0.091	0.34874	T	10	0.7064959	0.72772	D	0.017682	0.39474	T	0.264	0.57741	.	.	0.310458034454	0.30648	0.6481452082873094	0.64750	0.336113408329	0.35611	0.557137668133	0.46863	T	0.301063	0.67353	T	-0.197468	0.21171	T	-0.345579	0.39710	T	0.998104453086853	0.93241	D	0.884712	0.60854	D	0.8212808	0.85307	0.7145133	0.83152	0.8212808	0.85308	0.7145133	0.83153	-7.4	0.56905	T	.	.	0.255	0.48938	B	.	.	4.506292	0.70528	25.5	0.99756592056128424	0.84694	0.98158	0.80102	D	AEFDGBI	0.529047	0.55032	D	0.570702621199001	0.71350	5.637717	0.383609156597624	0.60554	4.244247	0.99026862754185	0.32094	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	3.33	3.33	0.37245	4.273000	0.58711	5.638000	0.49139	0.571000	0.28931	0.999000	0.42656	1.000000	0.68203	0.073000	0.16832	0.0:1.0:0.0:0.0	12.584	0.55756	730	0.54327	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3757.98	38	chr19	41088575	.	C	T	3757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.540;DP=889;ExcessHet=0.0000;FS=2.549;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.86;MQRankSum=-9.040e-01;QD=20.65;ReadPosRankSum=0.605;SOR=0.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1210	20	0	1	0
chr19	41089049	41089049	C	T	exonic	CYP2A13	.	stopgain	CYP2A13:NM_000766:exon2:c.C301T:p.R101X,	.	.	2	1487	32	1	0	34	0.0113032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	U	1.000	A	.	.	.	.	.	.	.	.	.	2.305	13.66	2.42	0.794	0.470	7.977	.	.	.	0.00379393	0.0059	0.0013	0.0041	0.0021	0.0011	0.0089	0.0055	0.0024	0.0008926	138	154602	rs72552266	0.0073	0.0074	0.0073	0.0073	0.0085	0.0072	0.0071	0.0084	0.0083	0.0013	0.0062	0.0013	0.0031	0.0021	0.0081	0.0085	0.0058	0.0023	0.0058	0.0059	0.0061	0.0056	0.0096	0.0055	0.0054	0.0090	0.0087	0.0016	0.0055	0.0067	0.0009	0.0021	0.0017	0.0136	0.0096	0.0071	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	0.000001	0.84330	U	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.55	0.57604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.03345	0.46913	T	0.190206	0.82582	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	8.654714	0.97843	38	0.99018416925873998	0.50527	0.24172	0.22310	N	AEFDBI	0.119291	0.23289	N	-0.142180447368628	0.35569	2.044669	-0.457264541210373	0.23343	1.272483	2.66261029611125E-5	0.03498	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	3.49	2.42	0.28720	0.030000	0.13576	-0.636000	0.08101	-0.256000	0.07045	0.003000	0.16062	0.000000	0.08366	0.009000	0.08673	0.1802:0.6446:0.1752:0.0	7.977	0.29326	730	0.54327	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1745.98	38	chr19	41089049	.	C	T	1745.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.900e-02;DP=836;ExcessHet=0.0000;FS=4.473;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.92;MQRankSum=0.299;QD=14.80;ReadPosRankSum=-9.890e-01;SOR=0.575	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1210	20	0	1	0
chr19	41094349	41094349	C	A	exonic	CYP2A13	.	nonsynonymous SNV	CYP2A13:NM_000766:exon7:c.C1078A:p.Q360K,	.	.	1	1518	3	0	0	3	0.000987167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.972	D	0.000	U	0.547	D	3.285	M	-0.5	T	0.116	D	0.323	T	0.268	3.294	17.07	3.15	0.998	5.717	11.076	0.422	.	0.0086	0.0081869	0.0024	0.0272	0.0008	0	0	5.993e-05	0	0	0.0023156	358	154602	rs116368403	0.0007	0.0007	0.0009	0.0006	0.0273	0.0007	0.0007	0.0258	0.0252	0.0273	0.0015	0	0	0	0.0007	1.169e-05	0.0014	5.797e-05	0.0072	0.0072	0.0077	0.0068	0.0254	0.0069	0.0067	0.0242	0.0236	0.0254	0	0.0017	0	0	0	0	4.412e-05	0.0057	0.0004	0.001	0.78490	D	0.0	0.92824	D	0.999	0.77913	D	0.972	0.72692	D	0.000000	0.84330	U	0.000000	0.546909	0.32100	D	4.44	0.98786	H	-0.5	0.70480	T	-3.71	0.70674	D	0.845	0.84090	0.116	0.84460	D	0.323	0.69195	T	10	0.023592263	0.00622	T	.	.	.	0.422	0.73078	.	.	0.743530720129	0.74123	0.5913157157551624	0.59061	0.505908923053	0.48822	0.437271863222	0.30204	T	0.206191	0.56546	T	-0.323809	0.06590	T	-0.218309	0.52899	T	0.104952379054455	0.12892	T	0.974103	0.90741	D	0.992242	0.99870	0.96967995	0.99451	0.992242	0.99870	0.96967995	0.99451	-11.007	0.79696	D	.	.	0.778	0.76291	P	.	.	4.135320	0.61910	24.4	0.98991140021590707	0.49943	0.97899	0.77970	D	AEFDBI	0.645262	0.62122	D	0.50676136161011	0.67489	5.088414	0.346070846760895	0.58272	3.99675	0.703792491782663	0.22733	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.19	3.15	0.35301	5.964000	0.70093	4.748000	0.44643	0.504000	0.22967	1.000000	0.71638	1.000000	0.68203	0.181000	0.21328	0.0:0.9057:0.0:0.0943	11.076	0.47253	716	0.55970	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	4555.98	36	chr19	41094349	.	C	A	4555.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.700e-01;DP=1095;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=-8.390e-01;SOR=0.712	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr19	41094406	41094406	A	C	exonic	CYP2A13	.	nonsynonymous SNV	CYP2A13:NM_000766:exon7:c.A1135C:p.K379Q,	.	.	4	1496	20	2	0	24	0.00795756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.006	B	0.008	B	0.004	N	1.000	N	0.52	N	-0.46	T	-1.047	T	0.093	T	0.2	0.623	7.352	2.18	0.193	-0.232	4.193	0.031	.	0.0050	0.0165735	0.0106	0.0042	0.0013	0.0038	0.0085	0.0061	0.0099	0.0437	0.0097541	1508	154602	rs115698903	0.0070	0.0070	0.0057	0.0083	0.0436	0.0069	0.0069	0.0425	0.0420	0.0051	0.0010	0.0032	0.0024	0.0099	0.0038	0.0046	0.0074	0.0436	0.0067	0.0067	0.0062	0.0073	0.0467	0.0064	0.0062	0.0417	0.0398	0.0051	0	0.0014	0.0035	0.0054	0.0067	0.0068	0.0065	0.0038	0.0467	0.316	0.13744	T	0.497	0.11299	T	0.006	0.13644	B	0.008	0.13708	B	0.003790	0.34487	N	0.237828	0.99961	0.20887	N	0.825	0.20901	L	-0.46	0.70014	T	0.23	0.04613	N	0.113	0.10056	-1.0471	0.15217	T	0.093	0.35498	T	10	0.003399998	0.00059	T	.	.	.	0.031	0.07369	.	.	.	.	0.19978786823092032	0.19895	0.29519374901	0.31926	0.280077129602	0.07503	T	0.015972	0.13294	T	-0.53402	0.00364	T	-0.509159	0.21401	T	0.00563211252623027	0.00061	T	0.680232	0.28883	T	0.32489017	0.55049	0.050949696	0.08100	0.32489017	0.55049	0.050949696	0.08099	-4.741	0.33896	T	.	.	0.102	0.18206	B	.	.	0.413715	0.07843	4.542	0.90298985252586006	0.19566	0.19985	0.20871	N	AEFDBI	0.115772	0.22749	N	-0.845328163276663	0.12164	0.5913215	-0.789467181940793	0.14753	0.7725204	2.1801934581752E-4	0.05997	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.36	2.18	0.26813	-1.125000	0.03368	-3.325000	0.02875	0.632000	0.51917	0.000000	0.06391	0.000000	0.08366	0.665000	0.33109	0.6726:0.0:0.1762:0.1512	4.193	0.09891	716	0.55970	.	.	.	.	.	rs115698903	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3758.98	36	chr19	41094406	.	A	C	3758.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.077;DP=1012;ExcessHet=0.0000;FS=4.957;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=-4.710e-01;SOR=0.468	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr19	41095022	41095022	C	T	exonic	CYP2A13	.	nonsynonymous SNV	CYP2A13:NM_000766:exon8:c.C1225T:p.R409W,	.	.	1	1519	2	0	0	2	0.000657895	.	.	3420107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.986	D	0.687	P	0.464	U	1.000	N	0	N	-0.36	T	-0.890	T	0.168	T	0.198	1.345	10.42	-3.79	-0.259	-1.990	4.674	0.170	0.02431257254	.	.	8.236e-06	0	0	0	0	1.498e-05	0	0	2.59e-05	4	154602	rs765414081	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	0.0002	0.0001	2.987e-05	2.236e-05	0	5.038e-05	0	0.0003	0.0002	8.279e-05	1.159e-05	4.601e-05	4.597e-05	6.424e-05	2.692e-05	7.349e-05	2.11e-05	1.527e-05	2.846e-05	1.858e-05	2.414e-05	0	6.548e-05	0	0	0	0	7.349e-05	0	0	0.005	0.63226	D	0.063	0.45110	T	0.986	0.61523	D	0.687	0.53665	P	0.464288	0.04888	U	1.286320	1	0.08975	N	0.655	0.16177	N	-0.36	0.68754	T	-2.19	0.49352	N	0.19	0.20793	-0.8898	0.48952	T	0.168	0.50729	T	10	0.18013203	0.33182	T	0.024313	0.47297	T	0.170	0.43303	.	.	0.625847943871	0.62280	0.34109126854996213	0.34022	0.107777585611	0.12158	0.193254008889	0.00288	T	0.17544	0.52502	T	-0.304993	0.08197	T	-0.489974	0.23393	T	0.191677868366241	0.19943	T	0.0270973	0.00165	T	0.22296707	0.44908	0.21588337	0.46195	0.22296707	0.44908	0.21588337	0.46194	-4.719	0.33634	T	.	.	0.139	0.30344	B	.	.	1.744287	0.22190	15.52	0.99381073545279586	0.61891	0.01965	0.05957	N	AEFDBI	0.075843	0.15242	N	-0.747749251023037	0.14695	0.7341707	-0.953802407175181	0.10835	0.5482938	1.64737139972807E-4	0.05721	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.24	-3.79	0.04037	-1.986000	0.01573	-20.000000	0.00162	-0.280000	0.06433	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.2489:0.2041:0.4644:0.0826	4.674	0.12087	711	0.56613	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2454.98	40	chr19	41095022	.	C	T	2454.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.02;DP=930;ExcessHet=0.0000;FS=1.109;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=0.00;QD=12.34;ReadPosRankSum=-1.500e-02;SOR=0.819	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr19	41095838	41095838	G	A	exonic	CYP2A13	.	nonsynonymous SNV	CYP2A13:NM_000766:exon9:c.G1382A:p.R461H,	.	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.001	B	0.001	B	0.809	N	1.000	N	0.7	N	4.98	T	-0.912	T	0.003	T	0.094	3.063	16.22	-2.2	-0.414	-1.524	2.069	0.010	0.00375986497174	.	.	5.765e-05	0	0	0	0	1.498e-05	0	0.0004	5.17e-05	8	154602	rs187221928	4.105e-05	4.104e-05	3.131e-05	5.088e-05	0.0005	3.245e-05	2.919e-05	0.0002	0.0002	0	2.236e-05	0	0	0.0001	0.0005	1.979e-05	3.312e-05	0.0003	6.568e-05	6.563e-05	5.142e-05	8.059e-05	0.0004	3.515e-05	2.615e-05	7.301e-05	3.033e-05	2.407e-05	0	0	0	0	0.0003	0	5.881e-05	0	0.0004	0.171	0.22746	T	0.113	0.36901	T	0.001	0.07471	B	0.001	0.04355	B	0.809439	0.09262	N	0.904496	1	0.08975	N	1.17	0.29769	L	4.98	0.01344	T	-0.59	0.17624	N	0.033	0.00882	-0.9121	0.46594	T	0.003	0.01092	T	10	0.061881095	0.07828	T	0.00376	0.08744	T	0.010	0.01040	0.359	0.36222	0.0666544352282	0.05500	0.23131663786363002	0.23046	0.128887692525	0.14537	0.218874931335	0.01246	T	0.031267	0.21965	T	-0.582186	0.00187	T	-0.781897	0.02397	T	0.0474540913373799	0.05046	T	0.621638	0.23898	T	0.11742669	0.27683	0.10288482	0.24670	0.11742669	0.27683	0.10288482	0.24670	-5.777	0.44373	T	.	.	0.073	0.04517	B	.	.	0.649944	0.10185	6.925	0.97640740529248149	0.35080	0.07264	0.13287	N	AEFDBHCI	0.084756	0.17179	N	-1.03045712193175	0.07976	0.3724119	-1.05842188647082	0.08532	0.4199635	0.365949011004561	0.19823	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.15	-2.2	0.06601	-1.891000	0.01703	-13.090000	0.00480	0.576000	0.29215	0.000000	0.06391	0.000000	0.08366	0.062000	0.16114	0.2137:0.3423:0.3231:0.1209	2.069	0.03389	711	0.56613	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2059.98	45	chr19	41095838	.	G	A	2059.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.052;DP=1067;ExcessHet=0.0000;FS=1.902;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=0.145;SOR=0.547	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr19	41124737	41124737	T	A	exonic	CYP2F1	.	nonsynonymous SNV	CYP2F1:NM_000774:exon8:c.T983A:p.I328N,	.	.	418	1096	8	0	0	8	0.00363636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.991	D	0.000	U	0.998	D	4.065	H	-0.81	T	0.450	D	0.670	D	0.537	1.423	10.70	3.13	1.322	4.618	9.453	0.625	0.131521775098	7.7e-05	.	0.0008	0	0.0003	0	0	0.0003	0.0027	0.0040	0.0005369	83	154602	rs372824170	0.0005	0.0005	0.0003	0.0006	0.0050	0.0004	0.0004	0.0046	0.0045	5.98e-05	8.969e-05	0	7.565e-05	0	0.0026	0.0002	0.0003	0.0050	0.0002	0.0002	0.0001	0.0003	0.0046	0.0002	0.0001	0.0031	0.0026	0	0	0.0001	0	0	0	0	0.0001	0	0.0046	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	0.000014	0.62929	U	0.064580	0.998183	0.44603	D	3.545	0.93219	H	-0.81	0.73949	T	-6.41	0.91226	D	0.883	0.88137	0.450	0.89836	D	0.670	0.88579	D	10	0.18624687	0.34081	T	0.131522	0.81378	D	0.625	0.85511	.	.	0.911612100983	0.91072	0.8242532732302961	0.82383	1.43972300734	0.85949	0.700266003609	0.67181	T	0.121749	0.44492	T	-0.226669	0.17092	T	-0.0981039	0.63543	T	0.290959605107801	0.24629	T	0.911809	0.68723	D	0.97551733	0.98750	0.92435706	0.96703	0.97551733	0.98750	0.92435706	0.96704	-12.563	0.87485	D	.	.	0.796	0.77098	P	.	.	3.772468	0.54193	23.5	0.81645528404771683	0.13789	0.94309	0.60756	D	AEFDBHI	0.383504	0.46499	N	0.514445937641141	0.67943	5.149642	0.304720625583079	0.55816	3.744488	0.987211036396077	0.31212	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	3.13	3.13	0.35090	4.830000	0.62434	1.355000	0.25837	0.310000	0.19122	1.000000	0.71638	0.957000	0.29195	0.233000	0.22815	0.0:0.0:0.0:1.0	9.453	0.37903	711	0.56613	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1446.98	33	chr19	41124737	.	T	A	1446.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=824;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=-1.860e-01;SOR=0.634	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1252	20	0	1	0
chr19	41194647	41194647	A	G	exonic	CYP2S1	.	nonsynonymous SNV	CYP2S1:NM_030622:exon2:c.A281G:p.Q94R,	.	.	.	.	.	.	.	.	.	.	.	3420172	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	0.165	B	0.018	B	0.018	N	1.000	D	1.265	L	5.1	T	-0.713	T	0.005	T	0.122	1.731	11.75	4.27	1.825	3.376	11.461	0.086	0.0145456548362	.	.	0.0002	0	0.0006	0	0	2.998e-05	0.0022	0.0012	0.000194	30	154602	rs771065124	7.739e-05	7.798e-05	3.407e-05	0.0001	0.0012	6.541e-05	6.143e-05	0.0011	0.0010	0	0	0	0	0	0	8.998e-07	8.291e-05	0.0012	1.97e-05	1.969e-05	1.285e-05	2.687e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	0	0	0.0006	0.166	0.23183	T	0.103	0.38305	T	0.165	0.28508	B	0.018	0.18489	B	0.017666	0.27666	N	0.372584	1	0.81001	D	1.595	0.40691	L	5.1	0.01231	T	-1.91	0.44471	N	0.085	0.06190	-0.7130	0.59805	T	0.005	0.01725	T	10	0.029934227	0.01119	T	0.014546	0.34740	T	0.086	0.25016	0.411	0.44723	0.0666544352282	0.05500	0.36186534225303435	0.36100	0.741416554675	0.63284	0.379888355732	0.22241	T	0.017717	0.16683	T	-0.561172	0.00250	T	-0.624413	0.10843	T	0.0416356714221053	0.03987	T	0.50025	0.33277	T	0.22226717	0.44822	0.21936737	0.46674	0.22226717	0.44822	0.21936737	0.46673	-6.373	0.49299	T	.	.	0.084	0.09868	B	.;.	.;.	2.984954	0.39833	21.0	0.98346207412688713	0.40497	0.86682	0.46015	D	AEFDBI	0.290287	0.40171	N	-0.43643160032541	0.24202	1.305179	-0.409486035517427	0.24719	1.355191	0.999999147777536	0.74766	0.627647	0.40530	0	0.610034	0.51514	0	0.672317	0.60874	0	0.550183	0.17644	0	.	.	4.27	4.27	0.50009	2.059000	0.41010	6.575000	0.55979	0.691000	0.84096	0.128000	0.23311	1.000000	0.68203	0.919000	0.45453	1.0:0.0:0.0:0.0	11.461	0.49459	624	0.65661	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	450.98	34	chr19	41194647	.	A	G	450.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=733;ExcessHet=0.0000;FS=5.501;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=-6.030e-01;SOR=1.995	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1083	20	0	1	0
chr19	41239703	41239703	A	C	exonic	AXL	.	nonsynonymous SNV	AXL:NM_001278599:exon7:c.A491C:p.Q164P	.	.	418	1096	7	1	0	9	0.00408905	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.347	B	0.043	B	0.276	N	1.000	D	0	N	-0.92	T	-1.001	T	0.142	T	0.459	0.969	8.956	3.25	0.686	1.875	4.895	0.213	0.0388722305761	0.0002	0.000199681	0.0002	0	0	0	0	0.0002	0	0.0007	0.0001746	27	154602	rs199928489	0.0001	0.0001	0.0001	0.0002	0.0017	0.0001	0.0001	0.0009	0.0007	8.961e-05	0	0	0	3.745e-05	0.0017	0.0001	0.0002	0.0006	0.0001	0.0001	0.0001	0.0002	0.0006	9.144e-05	7.7e-05	0.0002	8.992e-05	7.218e-05	0	6.54e-05	0	0	9.416e-05	0.0068	0.0002	0	0.0006	0.271	0.15984	T	0.268	0.22494	T	0.347	0.33585	B	0.043	0.24256	B	0.275979	0.15036	N	0.612388	1	0.81001	D	-0.345	0.03330	N	-0.92	0.75108	T	-0.48	0.15379	N	0.326	0.37405	-1.0006	0.29746	T	0.142	0.46331	T	10	0.048037797	0.04201	T	0.038872	0.58482	D	0.213	0.50496	.	.	0.683692315528	0.68099	0.6271751314507209	0.62650	0.309415932302	0.33251	0.543808043003	0.44983	T	0.186081	0.53926	T	-0.267865	0.11995	T	-0.23933	0.50863	T	0.0241071543920667	0.01158	T	0.670133	0.28021	T	0.10225841	0.24160	0.115856044	0.27968	0.10225841	0.24160	0.115856044	0.27967	-3.879	0.21988	T	.	.	0.057	0.00583	B	.;.	.;.	2.536949	0.32808	19.15	0.94305901757211796	0.24619	0.73695	0.36047	D	AEFGBI	0.260585	0.37871	N	-0.404060992346667	0.25326	1.374007	-0.261479934388279	0.29378	1.645462	0.999548742672197	0.40300	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.29	3.25	0.36363	2.049000	0.40912	7.535000	0.59982	0.710000	0.85309	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.6168:0.1953:0.0:0.1879	4.895	0.13100	538	0.73119	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1557.98	35	chr19	41239703	.	A	C	1557.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.64;DP=899;ExcessHet=0.0000;FS=0.629;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.05;ReadPosRankSum=0.104;SOR=0.589	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr19	41316789	41316789	G	A	exonic	CCDC97	.	nonsynonymous SNV	CCDC97:NM_001346100:exon2:c.G257A:p.R86H	.	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.736	P	0.068	B	0.000	D	0.999	D	1.67	L	.	.	-0.977	T	0.106	T	0.293	2.688	14.95	4.61	2.114	3.396	9.994	0.108	0.00304516842019	.	.	8.771e-06	0	0	0	0	1.595e-05	0	0	6.5e-06	1	154602	rs767966086	5.31e-05	5.404e-05	4.651e-05	5.98e-05	0.0003	4.312e-05	3.985e-05	6.123e-05	4.776e-05	0	2.253e-05	0	0	1.899e-05	0.0003	6.437e-05	1.673e-05	1.163e-05	2.629e-05	2.627e-05	1.285e-05	4.036e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.178	0.22138	T	0.365	0.16717	T	0.736	0.42845	P	0.068	0.27651	B	0.000038	0.55875	D	0.066755	0.999047	0.45943	D	1.905	0.50856	L	.	.	.	-0.02	0.07299	N	0.308	0.34767	-0.9771	0.35660	T	0.106	0.38685	T	9	0.18756887	0.34272	T	0.003045	0.06547	T	0.108	0.30607	0.327	0.31034	0.417586769301	0.41374	0.3777044693589388	0.37685	0.271534841121	0.29673	0.748189985752	0.74179	T	0.033165	0.22797	T	-0.124326	0.32417	T	-0.340122	0.40331	T	0.378453604102234	0.28123	T	0.788521	0.42806	T	0.03629455	0.04437	0.04510454	0.05996	0.03629455	0.04436	0.04510454	0.05996	-5.196	0.38901	T	.	.	0.116	0.23535	B	.	.	3.371215	0.46582	22.3	0.9970266870806539	0.80729	0.84723	0.43810	D	AEFDGBHCI	.	.	.	0.170282902537363	0.49775	3.17425	0.24734192147948	0.52498	3.424293	0.999995986856196	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	4.61	4.61	0.56724	3.703000	0.54539	4.241000	0.42707	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0958:0.0:0.9042:0.0	9.994	0.41059	649	0.63102	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2298.98	33	chr19	41316789	.	G	A	2298.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.108e+00;DP=853;ExcessHet=0.0000;FS=0.670;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.86;ReadPosRankSum=0.063;SOR=0.605	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1211	20	0	1	0
chr19	41414125	41414125	C	T	exonic	BCKDHA	.	nonsynonymous SNV	BCKDHA:NM_000709:exon4:c.C452T:p.T151M	Maple syrup urine disease, type Ia, Autosomal recessive	YES	1	1439	78	4	0	86	0.0290148	.	.	99268	Maple_syrup_urine_disease|not_provided|not_specified|Maple_syrup_urine_disease_type_1A	MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0023691,MedGen:C1855369,OMIM:248600	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.969	D	0.806	P	0.000	D	0.983	D	1.79	L	-3.88	D	0.800	D	0.837	D	0.305	4.042	20.7	4.66	2.578	1.755	16.831	0.170	.	0.0075	0.00419329	0.0108	0.0018	0.0035	0.0001	0.0296	0.0145	0.0113	0.0050	0.0100775	1558	154602	rs34442879	0.0090	0.0090	0.0090	0.0089	0.0468	0.0088	0.0088	0.0422	0.0404	0.0019	0.0044	0.0054	2.519e-05	0.0251	0.0468	0.0090	0.0093	0.0054	0.0079	0.0079	0.0071	0.0087	0.0103	0.0075	0.0073	0.0097	0.0094	0.0015	0	0.0051	0.0040	0.0004	0.0261	0.0612	0.0103	0.0123	0.0041	0.02	0.56456	D	0.044	0.49663	D	0.963	0.55692	D	0.622	0.51475	P	0.000089	0.51296	D	0.167160	0.927282	0.39958	D	1.845	0.48678	L	-3.88	0.95953	D	-1.21	0.31375	N	0.185	0.34012	0.800	0.94407	D	0.837	0.94546	D	10	0.017781347	0.00382	T	.	.	.	0.434	0.73951	.	.	.	.	0.7002436206164835	0.69965	1.23621605308	0.85030	0.532821595669	0.43432	T	0.534257	0.83937	D	-0.208204	0.19633	T	-0.0608155	0.66276	T	0.0228603141182863	0.01008	T	0.928207	0.73493	D	0.15023611	0.34212	0.08159312	0.18555	0.15023611	0.34212	0.08159312	0.18554	-5.983	0.49852	T	0.289193797445513	0.38554	0.089	0.31532	B	.;.;.;.	.;.;.;.	3.389103	0.46917	22.4	0.99873433679432777	0.95076	0.68246	0.33730	D	AEFBI	0.639883	0.61778	D	0.332885079307658	0.57843	3.953436	0.299358951351295	0.55501	3.713204	0.987086427242392	0.31181	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.66	4.66	0.57857	1.309000	0.33145	3.999000	0.41057	0.599000	0.40250	0.226000	0.24601	0.994000	0.32194	0.989000	0.64315	0.0:1.0:0.0:0.0	16.831	0.85808	856	0.34373	.;Dehydrogenase, E1 component;Dehydrogenase, E1 component;.	PCAT19|PCAT19|PCAT19|PCAT19|PCAT19	Adipose_Subcutaneous|Nerve_Tibial|Ovary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	PCAT19|PCAT19|PCAT19|PCAT19|PCAT19|PCAT19|PCAT19|PCAT19|PCAT19|PCAT19|LTBP4|LTBP4	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	1231.11	33	chr19	41414125	.	C	T	1231.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.705;DP=784;ExcessHet=0.1072;FS=1.824;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.32;ReadPosRankSum=0.730;SOR=0.948	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	19	0	2	0
chr19	41433272	41433272	T	C	exonic	DMAC2	.	nonsynonymous SNV	DMAC2:NM_001167871:exon4:c.A515G:p.Q172R	.	.	404	1117	1	0	0	1	0.000447427	0	0.01	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	B	0.188	B	0.017	N	1.000	N	1.495	L	1.46	T	-1.034	T	0.054	T	0.077	0.639	7.430	-1.59	-0.280	-0.086	5.575	0.033	0.0153287045744	7.7e-05	.	5.929e-05	0	0	0	0	0.0001	0	0	3.88e-05	6	154602	rs375351812	4.743e-05	5.199e-05	4.788e-05	4.697e-05	0.0017	3.812e-05	3.492e-05	0.0008	0.0006	8.978e-05	0	3.853e-05	0	0	0.0017	4.502e-05	6.654e-05	3.49e-05	2.629e-05	2.627e-05	3.855e-05	1.346e-05	4.411e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.414e-05	0	0	0	0	0	0	4.411e-05	0	0	0.552	0.07473	T	0.215	0.92824	T	0.001	0.30288	B	0.004	0.36237	B	0.016888	0.27861	N	0.324591	1	0.81001	D	.	.	.	1.46	0.33842	T	-0.41	0.14000	N	0.141	0.15609	-1.0343	0.19078	T	0.054	0.22921	T	9	0.08168927	0.13402	T	0.015329	0.35999	T	0.033	0.08068	.	.	0.314417295294	0.31040	0.18534758903476423	0.18452	0.190717556463	0.21381	0.390698552132	0.23769	T	0.00202	0.10059	T	-0.452271	0.01095	T	-0.672098	0.07474	T	0.108368076384068	0.13254	T	0.472753	0.21195	T	0.01898305	0.00423	0.029552072	0.01305	0.01898305	0.00423	0.029552072	0.01304	-3.762	0.23383	T	.	.	0.089	0.30842	B	.;.;.;.;.	.;.;.;.;.	1.134698	0.15214	11.68	0.5779364826643052	0.05848	0.50028	0.28568	D	AEFDBHCI	0.186327	0.31364	N	-0.695264982788151	0.16156	0.8206459	-0.654649900363555	0.18100	0.9653898	0.999999157615075	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.3	-1.59	0.08003	-0.545000	0.06159	-0.343000	0.09801	-0.163000	0.11536	0.518000	0.27096	0.376000	0.24592	0.752000	0.35857	0.0:0.3535:0.147:0.4995	5.575	0.16500	862	0.33134	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	862.98	33	chr19	41433272	.	T	C	862.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.950e+00;DP=764;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.70;ReadPosRankSum=-1.400e-02;SOR=0.741	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1191	20	0	1	0
chr19	41579527	41579527	C	T	exonic	CEACAM21	.	nonsynonymous SNV	CEACAM21:NM_001098506:exon3:c.C599T:p.T200I	.	.	425	1086	11	0	0	11	0.00503894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.988	D	0.838	P	.	.	1.000	N	1.915	M	2.77	T	-1.052	T	0.039	T	0.236	1.545	11.12	-3.53	-0.535	-0.215	2.908	0.035	0.00154109281056	0.0014	0.000599042	0.0012	0	0.0005	0	0	0.0019	0.0026	0.0009	0.0009573	148	154602	rs139036367	0.0009	0.0009	0.0008	0.0009	0.0043	0.0008	0.0008	0.0030	0.0026	0.0001	0.0005	0.0017	0	1.873e-05	0.0043	0.0009	0.0014	0.0008	0.0008	0.0008	0.0009	0.0007	0.0014	0.0007	0.0007	0.0012	0.0011	0.0002	0	0.0008	0.0006	0	9.42e-05	0	0.0014	0.0019	0.0004	0.053	0.38863	T	0.291	0.28482	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.77	0.11407	T	-4.72	0.79998	D	0.09	0.06990	-1.0516	0.13954	T	0.039	0.16978	T	9	0.015399635	0.00323	T	0.001541	0.02420	T	0.035	0.08770	.	.	0.0482279557977	0.04254	0.3101955809135996	0.30932	0.13162313656	0.14841	.	.	.	.	.	.	-0.569624	0.00222	T	-0.615629	0.11532	T	0.136128589510918	0.15938	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.52385	B	.;.;.	.;.;.	0.156737	0.05477	1.946	0.98514453608873587	0.42386	0.00329	0.01719	N	AEFBI	0.026900	0.02103	N	-0.824227230968977	0.12692	0.6203225	-1.10763120710169	0.07553	0.3678649	4.07064757860546E-4	0.06860	0.651	0.46895	0	0.708844	0.79440	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	3.34	-3.53	0.04369	-0.306000	0.08217	-10.165000	0.00732	-1.699000	0.00759	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1495:0.3703:0.3662:0.114	2.908	0.05377	849	0.35778	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3758.11	39	chr19	41579527	.	C	T	3758.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.76;DP=1194;ExcessHet=0.1072;FS=0.385;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.35;ReadPosRankSum=-4.280e-01;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1199	19	0	2	0
chr19	41625708	41625708	G	T	exonic	CEACAM4	.	nonsynonymous SNV	CEACAM4:NM_001362492:exon2:c.C317A:p.S106Y	.	.	381	1137	4	0	0	4	0.00175593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	N	3.68	H	4.28	T	-1.109	T	0.046	T	0.56	1.911	12.35	1.76	1.281	2.140	6.954	0.061	0.0013354418562	0.0008	0.000199681	0.0006	9.61e-05	0.0003	0	0	0.0011	0	0.0001	0.0006727	104	154602	rs146495927	0.0010	0.0010	0.0011	0.0009	0.0014	0.0010	0.0009	0.0012	0.0011	0.0003	0.0006	3.828e-05	2.519e-05	5.616e-05	0.0014	0.0012	0.0008	0.0001	0.0006	0.0006	0.0008	0.0005	0.0011	0.0005	0.0005	0.0009	0.0008	0.0003	0	0.0007	0	0	0	0	0.0011	0.0009	0	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.998	0.88582	D	.	.	.	.	1	0.08975	N	3.12	0.87914	M	4.28	0.02487	T	-5.58	0.86450	D	0.342	0.41162	-1.1088	0.03174	T	0.046	0.19839	T	9	0.14590693	0.27669	T	0.001335	0.01885	T	0.061	0.17616	.	.	0.441221003447	0.43743	0.43194430508922627	0.43111	0.226368816379	0.25190	0.348661720753	0.17725	T	0.38321	0.74512	T	-0.41557	0.01827	T	-0.36876	0.37033	T	0.134758285113491	0.15815	T	.	.	.	0.72764176	0.79591	0.6130856	0.77486	0.72764176	0.79592	0.6130856	0.77487	-10.233	0.75294	D	.	.	0.725	0.76264	P	.;.	.;.	2.825009	0.37227	20.4	0.99023318340662492	0.50634	0.05592	0.11495	N	AEFDBI	0.041269	0.06252	N	0.0338912914374629	0.43403	2.633864	-0.306990503517268	0.27873	1.549757	0.99988676870225	0.44867	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.76	1.76	0.23776	2.419000	0.44325	0.506000	0.19038	0.337000	0.19705	0.975000	0.34726	0.000000	0.08366	0.009000	0.08673	0.0:0.0:1.0:0.0	6.954	0.23738	840	0.37365	Immunoglobulin V-set domain|Immunoglobulin-like domain;Immunoglobulin V-set domain|Immunoglobulin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2409.98	36	chr19	41625708	.	G	T	2409.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.190e+00;DP=911;ExcessHet=0.0000;FS=0.533;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.96;ReadPosRankSum=-1.271e+00;SOR=0.738	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,110,1570	20	0	1	0
chr19	41756758	41756758	G	A	exonic	CEACAM6	.	nonsynonymous SNV	CEACAM6:NM_002483:exon2:c.G223A:p.G75S,	.	.	10	1510	2	0	0	2	0.000661813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.007	B	0.049	B	.	.	1.000	N	-0.18	N	-0.19	T	-1.046	T	0.084	T	0.084	-1.171	0.088	-4.29	-2.455	-6.127	5.079	0.032	0.00649169048978	.	0.00139776	0.0012	0	0	0	0	0	0	0.0087	0.0009767	151	154602	rs199857146	0.0006	0.0006	0.0003	0.0008	0.0091	0.0005	0.0005	0.0086	0.0084	0	2.236e-05	0	2.519e-05	0	0.0002	4.496e-06	0.0007	0.0091	0.0002	0.0002	9e-05	0.0003	0.0066	0.0002	0.0001	0.0048	0.0042	0	0	0	0	0	0	0	0	0	0.0066	0.76	0.03481	T	0.731	0.05146	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.19	0.65931	T	1.07	0.01280	N	0.052	0.02366	-1.0457	0.15621	T	0.084	0.32814	T	9	0.0057451725	0.00128	T	0.006492	0.17100	T	0.032	0.07718	0.317	0.29419	0.349204839081	0.34528	0.1259997598882431	0.12525	0.158427851703	0.17892	0.224263802171	0.01571	T	.	.	.	-0.613823	0.00120	T	-0.648093	0.09087	T	0.0282232896935353	0.01721	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11076	B	.	.	-1.904799	0.00125	0.002	0.53588798938699067	0.04969	0.00088	0.00587	N	AEFGBI	0.024339	0.01490	N	-1.92911001878979	0.00299	0.01282971	-2.03114082680488	0.00263	0.01160249	0.0179510922401284	0.13007	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.15	-4.29	0.03465	-6.357000	0.00085	-20.000000	0.00162	-0.453000	0.05137	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2745:0.3399:0.3855:0.0	5.079	0.13982	585	0.69300	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	4498.98	64	chr19	41756758	.	G	A	4498.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.707e+00;DP=1826;ExcessHet=0.0000;FS=0.376;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=0.043;SOR=0.716	GT:AD:DP:GQ:PL	0/0:72,0:72:99:0,120,1800	20	0	1	0
chr19	41762184	41762184	G	T	exonic	CEACAM6	.	nonsynonymous SNV	CEACAM6:NM_002483:exon4:c.G919T:p.G307C,	.	.	10	1485	27	0	0	27	0.00900901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	.	.	1.000	N	3.1	M	2.42	T	-1.040	T	0.119	T	0.325	1.600	11.31	0.774	0.123	0.419	4.390	0.049	0.00180829317033	0.0007	0.000399361	0.0013	0.0004	0.0005	0.0001	0.0002	0.0017	0.0022	0.0017	0.0012419	192	154602	rs146516997	0.0019	0.0019	0.0019	0.0019	0.0033	0.0018	0.0018	0.0022	0.0021	0.0003	0.0004	3.826e-05	2.519e-05	9.36e-05	0.0033	0.0022	0.0018	0.0020	0.0012	0.0012	0.0013	0.0011	0.0021	0.0011	0.0010	0.0019	0.0018	0.0004	0.0022	0.0007	0	0	0.0002	0	0.0021	0.0019	0.0015	0.022	0.48642	D	0.037	0.51737	D	.	.	.	.	.	.	.	.	.	.	0.999549	0.21009	N	.	.	.	2.42	0.15376	T	-5.71	0.87457	D	0.344	0.38541	-1.0404	0.17192	T	0.119	0.41735	T	9	0.023479104	0.00616	T	0.001808	0.03115	T	0.049	0.13647	.	.	0.432154444652	0.42834	0.5759244226900047	0.57521	0.681454949513	0.60047	0.264249384403	0.05408	T	.	.	.	-0.504361	0.00540	T	-0.493531	0.23021	T	0.0803119729783042	0.10027	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	0.54573	B	.	.	1.740568	0.22151	15.50	0.98843005415940055	0.47152	0.05507	0.11395	N	AEFBI	0.069645	0.13794	N	-0.177224493981637	0.34085	1.941294	-0.515069635581128	0.21743	1.177718	1.30701209138358E-5	0.02871	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	1.87	0.774	0.17665	0.499000	0.22254	-1.703000	0.04884	0.526000	0.24426	0.074000	0.22182	0.000000	0.08366	0.011000	0.09372	0.2181:0.0:0.7819:0.0	4.390	0.10765	573	0.70213	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2795.98	36	chr19	41762184	.	G	T	2795.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.450e-01;DP=1046;ExcessHet=0.0000;FS=11.689;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=-2.473e+00;SOR=1.120	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr19	41838976	41838976	G	A	exonic	LYPD4	.	nonsynonymous SNV	LYPD4:NM_173506:exon3:c.C116T:p.A39V,	.	.	431	1070	20	1	0	22	0.0101758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.884	P	0.268	B	0.011	N	1.000	D	1.95	M	3.35	T	-1.000	T	0.019	T	0.323	1.053	9.299	1.65	0.571	2.260	10.029	0.075	.	7.7e-05	0.00419329	0.0045	0.0002	0.0002	0.0003	0	0.0002	0.0011	0.0321	0.0038292	592	154602	rs202011969	0.0020	0.0020	0.0012	0.0029	0.0306	0.0020	0.0020	0.0296	0.0292	5.974e-05	0.0001	0	7.557e-05	1.876e-05	0.0052	0.0002	0.0023	0.0306	0.0012	0.0012	0.0006	0.0018	0.0328	0.0010	0.0010	0.0286	0.0270	7.236e-05	0	6.549e-05	0	0.0004	0	0.0102	0.0001	0.0019	0.0328	.	.	.	0.0	0.92824	D	0.884	0.48618	P	0.268	0.39801	B	0.011196	0.29626	N	0.158192	0.999997	0.58761	D	2.35	0.67516	M	.	.	.	.	.	.	0.515	0.54584	-1.0003	0.29831	T	0.019	0.07753	T	10	0.008364201	0.00190	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.19926414201924622	0.19843	.	.	0.547485947609	0.45503	T	0.01609	0.13370	T	-0.389767	0.02700	T	-0.308965	0.43769	T	0.0276001529773976	0.01631	T	0.549145	0.18877	T	0.02735461	0.01916	0.098622054	0.23520	0.02735461	0.01916	0.098622054	0.23519	-4.139	0.25863	T	.	.	0.505	0.64803	A	.	.	2.269414	0.29007	17.98	0.98122709793049778	0.38448	0.47354	0.27964	N	AEFBCI	0.063194	0.12195	N	-0.2488027782671	0.31151	1.743895	-0.319272301007583	0.27476	1.524913	0.0271449519002789	0.13756	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.91	1.65	0.23015	2.281000	0.43113	2.360000	0.32366	-0.165000	0.11486	0.994000	0.38300	0.996000	0.32793	0.189000	0.21571	0.0:0.403:0.597:0.0	10.029	0.41260	754	0.51307	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1555.98	80	chr19	41838976	.	G	A	1555.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.320e+00;DP=1626;ExcessHet=0.0000;FS=1.404;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=-5.300e-02;SOR=0.849	GT:AD:DP:GQ:PL	0/0:86,0:86:99:0,120,1800	20	0	1	0
chr19	41879134	41879134	C	T	exonic	CD79A	.	nonsynonymous SNV	CD79A:NM_001783:exon2:c.C224T:p.T75M	Agammaglobulinemia 3, Autosomal recessive	.	1	1515	6	0	0	6	0.00197628	.	.	847733	Agammaglobulinemia_3,_autosomal_recessive	MONDO:MONDO:0013288,MedGen:C3150751,OMIM:613501	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.978	D	0.199	N	1.000	N	1.845	L	-0.27	T	-0.818	T	0.437	T	0.195	3.133	16.47	2.94	0.855	0.262	7.713	0.111	0.0507784510644	7.7e-05	0.000199681	0.0002	0	0.0003	0	0	0.0002	0	0.0007	0.0002199	34	154602	rs199967393	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0002	0.0008	0.0007	8.961e-05	0.0004	0	0	0	0.0003	0.0002	6.623e-05	0.0010	0.0001	0.0001	7.709e-05	0.0002	0.0008	7.571e-05	6.277e-05	0.0003	0.0002	2.406e-05	0	0.0002	0	0	0	0	0.0001	0.0009	0.0008	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.978	0.74104	D	0.198799	0.03304	N	1.611670	1	0.08975	N	2.545	0.74286	M	-0.27	0.83495	T	-1.94	0.45042	N	0.339	0.40063	-0.8176	0.54084	T	0.437	0.77683	T	10	0.040852368	0.02689	T	0.050778	0.64384	D	0.111	0.31313	.	.	0.695827863048	0.69320	0.5087870767544855	0.50800	1.22473152856	0.81168	0.322327494621	0.13773	T	0.454426	0.79398	T	-0.332204	0.05946	T	-0.310563	0.43597	T	0.107463891613838	0.13158	T	0.640436	0.25296	T	0.06258773	0.13090	0.103222735	0.24760	0.06258773	0.13089	0.103222735	0.24760	-7.286	0.56096	T	0.3400259700653841	0.43779	0.321	0.71599	B	.;.;.	.;.;.	2.479153	0.31965	18.90	0.99681018314477998	0.79241	0.06781	0.12804	N	AEFBCI	0.068911	0.13615	N	-0.286790142631961	0.29656	1.646629	-0.486532305239655	0.22524	1.223806	0.999917608058765	0.45857	0.542737	0.22433	0	0.685571	0.66316	0	0.48864	0.07692	0	0.567892	0.33627	0	.	.	5.06	2.94	0.33188	0.045000	0.13898	0.703000	0.20862	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.8112:0.0:0.1888	7.713	0.27853	739	0.53257	Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3096.98	33	chr19	41879134	.	C	T	3096.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=936;ExcessHet=0.0000;FS=5.353;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=-1.777e+00;SOR=0.876	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr19	41884481	41884481	C	A	exonic	ARHGEF1	.	nonsynonymous SNV	ARHGEF1:NM_199002:exon1:c.C14A:p.S5Y,	.	.	417	1103	2	0	0	2	0.000905797	.	.	1158556	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.01	D	0.104	B	0.056	B	.	.	1.000	N	.	.	-0.03	T	-0.898	T	0.172	T	0.041	2.667	14.88	1.02	0.371	0.394	4.537	0.029	.	.	0.00259585	0.0018	0	0.0004	0	0	0	0.0039	0.0127	0.0015006	232	154602	rs555585297	0.0007	0.0007	0.0004	0.0009	0.0103	0.0006	0.0006	0.0098	0.0096	2.987e-05	8.951e-05	0	0	0	0.0009	5.396e-06	0.0007	0.0103	0.0003	0.0003	0.0002	0.0003	0.0085	0.0002	0.0002	0.0064	0.0057	2.406e-05	0	0	0	0	0	0	0	0.0005	0.0085	0.001	0.78490	D	0.007	0.69154	D	0.073	0.24078	B	0.056	0.26147	B	.	.	.	.	1	0.08975	N	.	.	.	-0.36	0.68754	T	-0.02	0.07299	N	0.183	0.23632	-0.8976	0.48234	T	0.172	0.51452	T	8	0.0035879016	0.00065	T	.	.	.	0.029	0.06676	0.27	0.21893	0.386522206555	0.38262	0.15391246243640502	0.15313	0.620174703938	0.56340	0.472509145737	0.35026	T	.	.	.	-0.524938	0.00411	T	-0.516425	0.20658	T	0.103818287617442	0.12772	T	0.433257	0.11819	T	.	.	.	.	.	.	.	.	-6.092	0.47043	T	.	.	0.162	0.35788	B	.;.	.;.	1.629651	0.20810	14.92	0.98943139586690321	0.48978	0.06961	0.12987	N	ALL	0.030572	0.03103	N	-0.697077908979031	0.16104	0.8175887	-0.756983240759069	0.15551	0.8184219	0.99999999999101	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.24	1.02	0.19102	0.556000	0.23144	0.743000	0.21176	0.599000	0.40250	0.005000	0.17040	0.024000	0.20971	0.811000	0.38219	0.0:0.6409:0.2296:0.1295	4.537	0.11438	724	0.55085	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	943.98	37	chr19	41884481	.	C	A	943.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.734e+00;DP=767;ExcessHet=0.0000;FS=6.386;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.30;ReadPosRankSum=0.018;SOR=0.264	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1098	20	0	1	0
chr19	42054432	42054432	A	G	exonic	GRIK5	.	nonsynonymous SNV	GRIK5:NM_001301030:exon8:c.T944C:p.V315A	.	.	419	1095	8	0	0	8	0.00363967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.997	D	0.984	D	0.000	D	0.998	D	0.62	N	-0.95	T	-0.546	T	0.354	T	0.755	2.449	14.15	5.14	2.069	5.797	14.240	0.424	0.0545775151713	.	0.000399361	0.0004	0	0.0002	0	0	0.0002	0	0.0025	0.0003816	59	154602	rs549244829	0.0002	0.0002	0.0001	0.0003	0.0033	0.0002	0.0002	0.0022	0.0018	0	0.0001	0	0	0	0.0033	6.385e-05	0.0002	0.0022	0.0001	0.0001	5.139e-05	0.0002	0.0029	8.162e-05	6.719e-05	0.0018	0.0014	0	0	0	0	0	0	0.0068	4.41e-05	0	0.0029	1.0	0.00964	T	1.0	0.01155	T	0.997	0.70673	D	0.984	0.76113	D	0.000001	0.84330	D	0.000000	0.998234	0.44662	D	0.605	0.15622	N	-0.95	0.75438	T	0.16	0.05604	N	0.477	0.53006	-0.5460	0.66937	T	0.354	0.71758	T	10	0.021948755	0.00536	T	0.054578	0.65908	D	0.424	0.73226	.	.	0.718785486845	0.71631	0.8067408139557206	0.80629	1.35881551398	0.84260	0.720992326736	0.70191	T	0.073675	0.34754	T	-0.16798	0.25539	T	-0.0205437	0.68992	D	0.110998417031492	0.13527	T	0.80032	0.49964	T	0.14312698	0.32909	0.1560535	0.36553	0.14312698	0.32908	0.1560535	0.36552	-10.15	0.74805	D	0.19077899806427884	0.25007	0.390	0.66277	A	.;.;.	.;.;.	4.719073	0.75895	26.4	0.97938858264208672	0.37013	0.86037	0.45245	D	AEFBHCI	0.713528	0.66630	D	0.306852531489206	0.56501	3.814754	0.362736736300429	0.59277	4.104325	0.999999980649335	0.74766	0.67177	0.52595	0	0.610034	0.51514	0	0.702456	0.68683	0	0.564101	0.26826	0	.	.	5.14	5.14	0.70008	5.790000	0.68684	11.165000	0.87778	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	1.0:0.0:0.0:0.0	14.240	0.65499	851	0.35303	Receptor, ligand binding region;Receptor, ligand binding region;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1341.98	35	chr19	42054432	.	A	G	1341.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.221;DP=853;ExcessHet=0.0000;FS=1.331;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.32;ReadPosRankSum=0.467;SOR=0.732	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1300	20	0	1	0
chr19	42095399	42095399	C	G	exonic	POU2F2	.	nonsynonymous SNV	POU2F2:NM_001207025:exon11:c.G1018C:p.V340L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.989	D	0.000	D	1.000	D	3.53	H	-4.0	D	1.095	D	0.951	D	0.859	4.691	26.0	3.99	2.214	7.600	15.399	0.939	0.359661340362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.998	0.77913	D	0.989	0.78396	D	0.000001	0.84330	D	0.000000	1	0.81001	D	3.015	0.86134	M	-4.0	0.96339	D	-3.0	0.62343	D	0.826	0.82862	1.095	0.99469	D	0.951	0.98412	D	10	0.89701736	0.89057	D	0.359661	0.92479	D	0.939	0.98672	0.557	0.67547	0.949703262491	0.94917	0.9550304941655845	0.95488	2.60485491865	0.98196	0.885964512825	0.94748	D	0.792883	0.99163	D	0.495984	0.94173	D	0.47467	0.94096	D	0.993351914106228	0.84121	D	0.988801	0.96255	D	0.74310046	0.80470	0.69191414	0.81869	0.74310046	0.80471	0.69191414	0.81870	-12.988	0.89314	D	.	.	1.000	0.99395	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.327483	0.89412	30	0.99782441860528814	0.86867	0.97748	0.76847	D	AEFBI	0.946708	0.95645	D	0.844617874197824	0.88800	9.71644	0.738513627196856	0.85298	8.538503	0.999999999650972	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.667671	0.60360	0	0.699875	0.68795	0	.	.	3.99	3.99	0.45527	7.854000	0.85267	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	15.399	0.74539	846	0.36215	.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.225	1076.49	79	chr19	42095399	.	C	G	1076.49	.	AC=9;AF=0.225;AN=40;BaseQRankSum=-3.789e+00;DP=1906;ExcessHet=4.7172;FS=144.686;InbreedingCoeff=-0.3152;MLEAC=10;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=1.33;ReadPosRankSum=0.594;SOR=10.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:99,0:99:27:.:.:0,27,1867	11	0	9	1
chr19	42225746	42225746	C	G	exonic	ZNF526	.	nonsynonymous SNV	ZNF526:NM_001314033:exon3:c.C1343G:p.S448C	.	.	1	1515	5	1	0	7	0.00230491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.833	P	0.557	P	0.102	N	1.000	N	1.94	M	-1.17	T	-0.640	T	0.474	T	0.246	1.448	10.78	1.14	0.249	-0.130	8.105	0.343	0.168900059071	7.7e-05	.	0.0003	0	0	0	0	7.937e-05	0	0.0017	0.0002135	33	154602	rs375365588	0.0001	0.0001	7.659e-05	0.0002	0.0015	0.0001	0.0001	0.0013	0.0012	0	0.0001	0	0	0	0.0009	2.435e-05	0.0001	0.0015	6.636e-05	6.603e-05	5.187e-05	8.155e-05	0.0013	3.55e-05	2.74e-05	0.0006	0.0004	2.428e-05	0	0	0	0	0	0	4.439e-05	0	0.0013	0.085	0.32769	T	0.007	0.69154	D	0.833	0.46172	P	0.557	0.49454	P	0.101808	0.02554	N	2.070020	1	0.08975	N	1.78	0.46185	L	-1.17	0.78199	T	-3.07	0.63207	D	0.25	0.28264	-0.6405	0.63124	T	0.474	0.79800	T	10	0.043599367	0.03227	T	0.169	0.84687	D	0.343	0.66488	.	.	0.744868491062	0.74257	0.25657465678519664	0.25571	0.726517213602	0.62515	0.732311427593	0.71844	T	0.168333	0.51530	T	-0.373021	0.03444	T	-0.338674	0.40494	T	0.0929678740025025	0.11566	T	0.387161	0.09535	T	0.101342194	0.23937	0.105263256	0.25301	0.101342194	0.23937	0.105263256	0.25300	-7.029	0.54245	T	0.18805742168559167	0.24543	0.209	0.43585	B	.	.	2.888267	0.38240	20.7	0.9070336021829436	0.19954	0.10003	0.15626	N	AEFDBI	0.053924	0.09760	N	-0.231110832952674	0.31863	1.79101	-0.382746171988404	0.25511	1.403405	0.96513857846795	0.28810	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.59	1.14	0.19817	-0.089000	0.11146	1.790000	0.28791	0.594000	0.32500	0.000000	0.06391	0.115000	0.22839	0.995000	0.73285	0.1704:0.4999:0.3297:0.0	8.105	0.30040	774	0.48577	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	834.98	47	chr19	42225746	.	C	G	834.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.945;DP=847;ExcessHet=0.0000;FS=1.841;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.71;ReadPosRankSum=-1.014e+00;SOR=0.446	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr19	42272064	42272064	A	G	exonic	CIC	.	nonsynonymous SNV	CIC:NM_001304815:exon2:c.A281G:p.K94R	.	.	409	1112	1	0	0	1	0.000449438	.	.	1291899	Intellectual_disability,_autosomal_dominant_45|not_provided	MONDO:MONDO:0030910,MedGen:C4539848,OMIM:617600|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218647824824	.	0.00159744	0	0	.	.	.	0	.	.	0.0005763	15	26028	rs539540626	0.0003	0.0002	0.0002	0.0003	0.0151	0.0002	0.0002	0.0116	0.0104	0	0	0	0	4.797e-05	0.0008	6.316e-05	0.0002	0.0151	0.0004	0.0004	0.0002	0.0006	0.0116	0.0003	0.0003	0.0092	0.0083	4.811e-05	0	0	0	0	0	0	1.471e-05	0	0.0116	.	.	.	0.374	0.16280	T	.	.	.	.	.	.	.	.	.	.	0.992264	0.23909	N	.	.	.	-5.05	0.98611	D	.	.	.	0.202	0.22357	.	.	.	.	.	.	.	0.011375397	0.00249	T	0.218648	0.87669	D	.	.	.	.	0.82735623235	0.82572	.	.	.	.	.	.	.	0.005915	0.34783	T	0.144599	0.68761	D	-0.03007	0.68364	D	.	.	.	0.735926	0.37546	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.18622	B	.;.	.;.	3.903518	0.56875	23.8	0.98988730009747605	0.49902	0.83150	0.42292	D	AEFBCI	0.354588	0.44661	N	.	.	.	.	.	.	0.999999993524844	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.08	4.08	0.46880	4.845000	0.62551	11.130000	0.86775	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.747000	0.35681	1.0:0.0:0.0:0.0	11.333	0.48723	662	0.61715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	704.98	35	chr19	42272064	.	A	G	704.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.087;DP=778;ExcessHet=0.0000;FS=5.456;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=-1.490e+00;SOR=1.068	GT:AD:DP:GQ:PL	0/1:27,28:55:99:719,0,647	20	0	1	0
chr19	42310550	42310550	C	T	exonic	PRR19	.	nonsynonymous SNV	PRR19:NM_199285:exon3:c.C881T:p.T294M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.947	D	0.609	N	0.992	N	0.975	L	.	.	-0.904	T	0.182	T	0.376	3.964	20.3	5.04	2.781	3.573	14.102	0.140	0.00471149178169	.	.	3.299e-05	0	0	0	0	3.002e-05	0	0.0001	2.59e-05	4	154602	rs746643810	4.241e-05	4.241e-05	3.948e-05	4.538e-05	0.0003	3.376e-05	3.065e-05	6.092e-05	2.589e-05	0.0001	0	0	0	5.618e-05	0.0003	3.867e-05	8.279e-05	5.797e-05	2.628e-05	2.627e-05	1.285e-05	4.035e-05	4.826e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.826e-05	0	0	0	0	9.409e-05	0	1.47e-05	0	0	0.0	0.91255	D	0.009	0.66756	D	1.0	0.90584	D	0.947	0.68407	D	0.609475	0.10881	N	0.744121	0.992425	0.23884	N	1.585	0.39878	L	.	.	.	-4.18	0.75537	D	0.504	0.53620	-0.9044	0.47515	T	0.182	0.53026	T	9	0.3901474	0.54832	T	0.004711	0.11722	T	0.140	0.37593	.	.	0.191931220699	0.18833	0.308850495122396	0.30798	0.660252477466	0.58856	0.497677266598	0.38504	T	0.168505	0.51553	T	-0.155777	0.27412	T	-0.224871	0.52268	T	0.709237635135651	0.41163	D	0.710429	0.32156	T	0.37679186	0.59084	0.37822527	0.62904	0.37679186	0.59084	0.37822527	0.62904	-4.986	0.36687	T	.	.	0.217	0.44682	B	.;.	.;.	4.338521	0.66532	25.0	0.9991722349933132	0.98518	0.82630	0.41831	D	AEFBI	0.333550	0.43261	N	0.579838765324177	0.71917	5.724451	0.59396699877257	0.74506	6.148602	0.83300320697189	0.24727	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.664235	0.64389	0	.	.	5.04	5.04	0.67293	2.198000	0.42339	5.948000	0.51598	0.589000	0.31548	0.949000	0.33028	1.000000	0.68203	0.784000	0.37066	0.0:1.0:0.0:0.0	14.102	0.64587	595	0.68488	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1765.98	35	chr19	42310550	.	C	T	1765.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=842;ExcessHet=0.0000;FS=2.907;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-2.234e+00;SOR=0.488	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1195	20	0	1	0
chr19	42313420	42313420	C	T	exonic	TMEM145	.	nonsynonymous SNV	TMEM145:NM_001366910:exon1:c.C44T:p.P15L	.	.	355	1134	32	1	0	34	0.0147698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.983	D	0.726	P	0.259	U	0.993	D	0	N	1.06	T	-1.135	T	0.054	T	0.461	2.701	14.99	3.1	1.755	0.489	9.887	0.148	.	0.0025	0.00399361	0.0343	0	0	0	.	0.0249	0	0.0434	0.001313	203	154602	rs185966365	0.0050	0.0048	0.0049	0.0051	0.0186	0.0049	0.0049	0.0149	0.0140	0.0011	0.0020	0.0046	0	0.0076	0.0186	0.0046	0.0049	0.0152	0.0041	0.0041	0.0038	0.0044	0.0149	0.0038	0.0037	0.0121	0.0111	0.0013	0	0.0023	0.0032	0	0.0069	0.0171	0.0054	0.0038	0.0149	0.279	0.15561	T	0.126	0.35710	T	0.983	0.60381	D	0.726	0.55126	P	0.259431	0.15345	U	0.503609	0.99268	0.41714	D	1.39	0.34934	L	1.06	0.40469	T	0.5	0.02945	N	0.268	0.33578	-1.1348	0.01566	T	0.054	0.22770	T	10	0.006735027	0.00153	T	.	.	.	0.148	0.39182	.	.	0.558188439259	0.55478	0.29007636121236113	0.28920	0.512096811149	0.49265	0.884096682072	0.94505	D	0.006043	0.05478	T	-0.446652	0.01182	T	-0.402037	0.33148	T	0.0519023033639907	0.05831	T	0.727127	0.34152	T	0.09535335	0.22439	0.0749732	0.16457	0.09535335	0.22438	0.0749732	0.16457	-4.193	0.26650	T	.	.	0.114	0.22825	B	.;.	.;.	2.105866	0.26793	17.24	0.98485797629163652	0.42037	0.22804	0.21868	N	ALL	0.099040	0.19944	N	-0.0501813097093484	0.39595	2.337449	-0.0263752501979248	0.38528	2.27117	0.999999999996277	0.74766	0.685219	0.55550	0	0.748881	0.99253	0	0.674405	0.61402	0	0.554799	0.18163	0	.	.	3.1	3.1	0.34780	0.830000	0.27115	0.743000	0.21176	0.444000	0.21144	0.005000	0.17040	0.996000	0.32793	0.951000	0.49849	0.0:1.0:0.0:0.0	9.887	0.40439	571	0.70397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	222.98	34	chr19	42313420	.	C	T	222.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=696;ExcessHet=0.0000;FS=3.492;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.26;ReadPosRankSum=-1.482e+00;SOR=1.445	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,964	20	0	1	0
chr19	42375658	42375658	G	A	exonic	MEGF8	.	nonsynonymous SNV	MEGF8:NM_001410:exon41:c.G7220A:p.R2407H	Carpenter syndrome 2, Autosomal recessive	.	427	1075	20	0	0	20	0.00921659	.	.	470314	MEGF8-related_disorder|MEGF8-related_Carpenter_syndrome|not_provided	.|MONDO:MONDO:0013998,MedGen:C3554247,OMIM:614976,Orphanet:65759|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.997	D	0.000	D	1.000	D	1.04	L	1.95	T	-1.066	T	0.073	T	0.772	4.955	28.8	4.92	2.451	7.359	17.274	0.277	0.0282121564353	0.0034	0.00259585	0.0050	0.0012	0.0043	0	0.0007	0.0063	0.0033	0.0064	0.0038939	602	154602	rs45623135	0.0051	0.0051	0.0050	0.0052	0.0075	0.0050	0.0050	0.0057	0.0054	0.0012	0.0040	0.0067	7.575e-05	0.0003	0.0075	0.0056	0.0052	0.0053	0.0032	0.0032	0.0035	0.0030	0.0064	0.0030	0.0029	0.0046	0.0043	0.0014	0	0.0032	0.0026	0	9.418e-05	0.0068	0.0049	0.0033	0.0064	0.008	0.58626	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.36	0.67893	M	1.95	0.22474	T	-2.25	0.55501	N	0.359	0.62611	-1.0660	0.10316	T	0.073	0.29451	T	10	0.0077979267	0.00177	T	0.028212	0.50918	D	0.277	0.59375	.	.	0.128874641272	0.12493	0.7386281207333032	0.73807	1.64111292471	0.89373	0.742534101009	0.73346	T	0.204572	0.56338	T	-0.237178	0.15711	T	-0.110854	0.62543	T	0.0203347846755005	0.00733	T	0.914409	0.72946	D	0.24428602	0.47375	0.19751547	0.43537	0.27979955	0.51029	0.18761678	0.42004	-6.094	0.47059	T	.	.	0.250	0.51201	B	.;.;.	.;.;.	5.595620	0.92415	32	0.9994919472077709	0.99931	0.96926	0.71697	D	AEFDBI	0.861296	0.77934	D	0.675632153586274	0.78035	6.791304	0.681636737364255	0.80986	7.422312	0.999999995654211	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	4.92	4.92	0.64147	7.400000	0.79189	9.878000	0.82178	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:1.0:0.0	17.274	0.86995	553	0.71930	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2395.98	34	chr19	42375658	.	G	A	2395.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.971;DP=893;ExcessHet=0.0000;FS=1.858;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=1.29;SOR=0.596	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1241	20	0	1	0
chr19	42375804	42375804	A	G	exonic	MEGF8	.	nonsynonymous SNV	MEGF8:NM_001410:exon41:c.A7366G:p.T2456A	Carpenter syndrome 2, Autosomal recessive	.	424	1089	9	0	0	9	0.00411523	.	.	574992	not_provided|MEGF8-related_Carpenter_syndrome	MedGen:C3661900|MONDO:MONDO:0013998,MedGen:C3554247,OMIM:614976,Orphanet:65759	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.28	T	0.08	B	0.015	B	0.005	N	0.940	D	0.695	N	2.08	T	-1.044	T	0.026	T	0.197	-0.994	0.269	2.65	0.848	0.404	4.195	0.022	0.00759160223063	0.0012	0.000399361	0.0007	0	0.0003	0	0	0.0011	0	0.0003	0.0006856	106	154602	rs139192223	0.0010	0.0010	0.0010	0.0010	0.0028	0.0009	0.0009	0.0017	0.0014	5.974e-05	0.0008	0	0	7.624e-05	0.0028	0.0012	0.0008	8.122e-05	0.0007	0.0007	0.0008	0.0007	0.0013	0.0006	0.0006	0.0011	0.0010	0.0001	0	0.0009	0	0	0	0.0034	0.0013	0.0014	0	0.687	0.04786	T	0.99	0.59732	T	0.007	0.24543	B	0.007	0.17295	B	0.004758	0.33426	N	0.250905	0.903676	0.37270	D	0.69	0.16971	N	2.08	0.20255	T	-1.51	0.37759	N	0.078	0.05287	-1.0443	0.16030	T	0.026	0.11309	T	10	0.0058243275	0.00130	T	0.007592	0.20139	T	0.022	0.04323	.	.	0.082315109003	0.07666	0.47315711403515465	0.47234	0.552710321655	0.52069	0.605184435844	0.53636	T	0.125787	0.45172	T	-0.544514	0.00315	T	-0.590312	0.13638	T	0.00601910847245111	0.00066	T	0.674133	0.29175	T	0.044804946	0.07226	0.045418486	0.06105	0.03812522	0.05018	0.049402796	0.07542	-3.902	0.22333	T	.	.	0.061	0.01109	B	.;.;.	.;.;.	1.737561	0.22111	15.49	0.2974132960014253	0.01592	0.18261	0.20187	N	AEFBI	0.054439	0.09898	N	-0.611698597557831	0.18592	0.9664808	-0.51733406530727	0.21683	1.174102	0.00955033530699278	0.11873	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.06	2.65	0.30588	0.529000	0.22727	5.562000	0.48920	0.756000	0.94297	0.669000	0.28339	1.000000	0.68203	0.938000	0.47775	0.448:0.0:0.0962:0.4557	4.195	0.09898	553	0.71930	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	781.98	34	chr19	42375804	.	A	G	781.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.54;DP=769;ExcessHet=0.0000;FS=5.557;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=-4.360e-01;SOR=0.242	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1241	20	0	1	0
chr19	42521441	42521441	C	T	exonic	CEACAM1	.	nonsynonymous SNV	CEACAM1:NM_001024912:exon4:c.G784A:p.A262T	.	.	20	1501	1	0	0	1	0.000333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.376	B	0.404	B	.	.	1.000	N	1.01	L	2.74	T	-0.980	T	0.031	T	0.04	2.322	13.72	2.72	1.236	1.199	7.971	0.036	0.00920109502081	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs756037744	3.078e-05	3.078e-05	2.995e-05	3.163e-05	0.0002	2.347e-05	2.095e-05	2.743e-05	2.468e-05	0	2.236e-05	0	0	0	0.0002	3.687e-05	3.311e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.587	0.16198	T	0.53	0.11586	T	0.067	0.34240	B	0.286	0.43260	B	.	.	.	.	1	0.08975	N	0.545	0.13751	N	2.74	0.11730	T	-1.1	0.35194	N	0.095	0.17002	-0.9797	0.35071	T	0.031	0.13504	T	9	0.11846286	0.22397	T	0.009201	0.24177	T	0.036	0.09122	0.221	0.14371	0.28494636882	0.28116	0.13626798025442977	0.13550	0.481717173539	0.47150	0.255400717258	0.04358	T	0.069952	0.33840	T	-0.412943	0.01901	T	-0.748075	0.03561	T	0.269616395235062	0.23731	T	0.381762	0.23413	T	0.031045312	0.02873	0.04845239	0.07201	0.031045312	0.02873	0.04845239	0.07200	-7.541	0.57968	D	.	.	0.101	0.20625	B	.;.;.;.;.;.	.;.;.;.;.;.	1.569146	0.20088	14.58	0.97977905431149037	0.37305	0.06263	0.12254	N	AEFBI	0.117369	0.22995	N	-0.762406332494467	0.14298	0.7111122	-0.782291711428307	0.14929	0.7826347	0.0146238421587782	0.12619	0.744818	0.98587	0	0.732433	0.95613	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.14	2.72	0.31179	1.708000	0.37518	-0.707000	0.07768	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.012000	0.09680	0.0:0.7942:0.0:0.2058	7.971	0.29291	436	0.80373	.;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2182.98	34	chr19	42521441	.	C	T	2182.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.385;DP=898;ExcessHet=0.0000;FS=0.521;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.91;ReadPosRankSum=0.537;SOR=0.651	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1202	20	0	1	0
chr19	42588791	42588792	TG	-	exonic	CEACAM8	.	frameshift deletion	CEACAM8:NM_001816:exon4:c.950_951del:p.T317Sfs*3,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs916010743	7.525e-06	7.525e-06	9.529e-06	5.5e-06	2.519e-05	4.04e-06	2.95e-06	3.85e-06	2.24e-06	0	0	0	2.519e-05	0	0	7.194e-06	0	2.319e-05	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2354.94	34	chr19	42588790	.	CTG	C	2354.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=860;ExcessHet=0.0000;FS=0.617;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.19;ReadPosRankSum=-5.690e-01;SOR=0.779	GT:AD:DP:GQ:PL	0/1:92,63:155:99:2369,0,3667	20	0	1	0
chr19	42733028	42733028	G	T	exonic	PSG3	.	nonsynonymous SNV	PSG3:NM_021016:exon3:c.C465A:p.N155K,	.	.	8	1508	6	0	0	6	0.00198544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.051	B	0.077	B	.	.	1.000	N	2.3	M	3.07	T	-0.989	T	0.027	T	0.019	0.401	6.177	0.461	0.021	0.239	4.019	0.024	.	7.7e-05	0.00299521	0.0015	0.0002	0	0	0	2.997e-05	0	0.0111	0.0013454	208	154602	rs371709630	0.0007	0.0007	0.0004	0.0009	0.0101	0.0006	0.0006	0.0095	0.0093	0.0001	4.472e-05	0	0	3.744e-05	0.0007	2.608e-05	0.0008	0.0101	0.0005	0.0005	0.0003	0.0006	0.0135	0.0004	0.0003	0.0109	0.0099	2.408e-05	0	0	0	0	0	0	4.411e-05	0	0.0135	0.04	0.42199	D	0.057	0.49942	T	0.0	0.02946	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	2.54	0.74080	M	3.07	0.08547	T	-3.67	0.70191	D	0.084	0.06454	-0.9888	0.32903	T	0.027	0.11618	T	9	0.0038850307	0.00074	T	.	.	.	0.024	0.04979	0.365	0.37199	0.230578612272	0.22657	0.05315956693181324	0.05257	0.00315874859178	0.00272	0.434398978949	0.29810	T	0.034183	0.33658	T	-0.72779	0.00025	T	-0.808802	0.01692	T	0.0209267453478754	0.00793	T	0.627737	0.24556	T	0.11937455	0.28109	0.09321106	0.22005	0.11937455	0.28109	0.09321106	0.22004	-7.469	0.57392	T	.	.	0.208	0.44847	B	.;.;.	.;.;.	0.767012	0.11369	7.984	0.89692995166051925	0.19017	0.00500	0.02358	N	AEFBI	0.028645	0.02562	N	-0.890552452434949	0.11066	0.5320809	-1.05388338464607	0.08626	0.4250551	1.723591011047E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.59	0.461	0.15901	-0.007000	0.12747	-1.271000	0.05852	-1.304000	0.01241	0.007000	0.17678	0.000000	0.08366	0.000000	0.00833	0.2435:0.0:0.7565:0.0	4.019	0.09144	423	0.81269	Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2836.98	37	chr19	42733028	.	G	T	2836.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.73;DP=971;ExcessHet=0.0000;FS=1.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.43;MQRankSum=-8.405e+00;QD=11.13;ReadPosRankSum=-1.603e+00;SOR=0.790	GT:AD:DP:GQ:PL	0/1:145,110:255:99:2851,0,3530	20	0	1	0
chr19	42738888	42738888	A	G	exonic	PSG3	.	nonsynonymous SNV	PSG3:NM_021016:exon2:c.T266C:p.I89T,	.	.	9	1511	2	0	0	2	0.000661376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.008	B	0.072	B	.	.	1.000	N	1.11	L	-0.09	T	-0.983	T	0.120	T	0.098	-3.187	0.001	-2.79	-1.954	-2.336	2.418	0.072	0.00196530866471	.	.	0.0001	0	0	0	0	1.498e-05	0	0.0007	8.41e-05	13	154602	rs760635644	2.668e-05	2.668e-05	9.529e-06	4.4e-05	0.0004	1.997e-05	1.754e-05	0.0003	0.0003	0	0	0	0	0	0.0002	8.993e-07	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	0.04302	T	0.665	0.06406	T	0.0	0.02946	B	0.019	0.18783	B	.	.	.	.	1	0.08975	N	0.79	0.19579	N	-0.09	0.64086	T	-1.12	0.28906	N	0.132	0.13484	-0.9827	0.34375	T	0.120	0.41907	T	9	0.02538395	0.00734	T	0.001965	0.03509	T	0.072	0.21020	0.321	0.30064	0.143124449307	0.13826	0.06946648230740182	0.06884	0.00312182529261	0.00269	0.394799530506	0.24343	T	0.00417	0.13960	T	-0.514773	0.00471	T	-0.627781	0.10584	T	0.033826452315636	0.02608	T	0.144486	0.02052	T	0.03834021	0.05089	0.047848016	0.06980	0.03834021	0.05089	0.047848016	0.06980	-5.197	0.38911	T	.	.	0.121	0.26700	B	.;.;.	.;.;.	-0.196891	0.03105	0.493	0.1013112951104046	0.00120	0.00081	0.00551	N	AEI	0.017634	0.00476	N	-1.72401411525614	0.00760	0.03282354	-1.85807254057788	0.00591	0.0262326	0.0022244019735121	0.09245	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.39	-2.79	0.05494	-1.900000	0.01690	-20.000000	0.00162	-0.469000	0.05095	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.411:0.0:0.2692:0.3198	2.418	0.04169	496	0.76301	Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	7916.98	34	chr19	42738888	.	A	G	7916.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.58;DP=1336;ExcessHet=0.0000;FS=0.522;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.97;MQRankSum=0.00;QD=13.33;ReadPosRankSum=5.000e-03;SOR=0.628	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1266	20	0	1	0
chr19	42758240	42758240	G	T	exonic	PSG8	.	nonsynonymous SNV	PSG8:NM_001130168:exon2:c.C105A:p.N35K	.	.	12	1508	2	0	0	2	0.000662691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.006	B	0.062	B	.	.	1.000	N	1.37	L	2.74	T	-0.987	T	0.027	T	0.037	0.129	4.694	0.44	0.835	0.053	3.304	0.029	0.000620554203014	0.0002	.	7.414e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs140758943	3.626e-05	3.626e-05	3.131e-05	4.125e-05	0.0007	2.828e-05	2.565e-05	0.0002	0.0001	2.987e-05	0	0	0	0	0.0007	3.957e-05	4.967e-05	1.159e-05	2.63e-05	2.627e-05	3.855e-05	1.346e-05	4.411e-05	8.15e-06	5.14e-06	1.171e-05	6.25e-06	2.414e-05	0	0	0	0	0	0	4.411e-05	0	0	0.092	0.31682	T	0.12	0.37173	T	0.005	0.12996	B	0.037	0.23121	B	.	.	.	.	1	0.08975	N	1.935	0.51832	L	2.74	0.11730	T	-4.18	0.75537	D	0.124	0.16028	-0.9872	0.33298	T	0.027	0.11441	T	9	0.06640604	0.09102	T	6.21E-4	0.00303	T	0.029	0.06676	0.25	0.18757	0.0138822411134	0.00435	0.06015387533572749	0.05955	0.00655855936216	0.00574	0.478959977627	0.35914	T	0.023616	0.17996	T	-0.539557	0.00337	T	-0.81517	0.01552	T	0.0509389683251056	0.05665	T	0.722728	0.33613	T	0.12673002	0.29676	0.09640046	0.22904	0.12673002	0.29675	0.09640046	0.22903	-7.741	0.59375	D	.	.	0.198	0.44579	B	.;.;.	.;.;.	0.456681	0.08265	5.009	0.61375522280469075	0.06693	0.00473	0.02263	N	AEFI	0.038850	0.05558	N	-0.986032979182078	0.08901	0.4191651	-1.09986266831578	0.07703	0.3757676	1.70703421417644E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.53	0.44	0.15785	-0.219000	0.09233	-4.294000	0.02233	-0.562000	0.04833	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.2851:0.0:0.7149:0.0	3.304	0.06582	404	0.82510	.;.;Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3198.98	33	chr19	42758240	.	G	T	3198.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.10;DP=985;ExcessHet=0.0000;FS=4.203;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.86;MQRankSum=0.586;QD=11.68;ReadPosRankSum=0.524;SOR=0.490	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1182	20	0	1	0
chr19	42868780	42868780	C	T	exonic	PSG1	.	nonsynonymous SNV	PSG1:NM_001330524:exon3:c.G685A:p.D229N	.	.	10	1474	36	0	2	38	0.0120643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.022	B	0.134	B	.	.	1.000	N	2.745	M	2.84	T	-0.902	T	0.035	T	0.134	-1.253	0.050	0.676	0.080	1.980	4.490	0.086	.	.	.	0.0020	0.0213	0.0006	0	0	6.284e-05	0.0012	0.0003	0.0014683	227	154602	rs17420655	0.0007	0.0039	0.0004	0.0010	0.0011	0.0006	0.0006	0.0008	0.0008	0.0009	0.0011	0.0019	0	0.0002	0.0007	0.0007	0.0007	0.0010	0.0031	0.0056	0.0030	0.0032	0.0110	0.0029	0.0028	0.0101	0.0098	0.0110	0	0.0008	0	0	0	0	0.0001	0.0005	0.0002	0.845	0.44029	T	0.361	0.32355	T	0.001	0.18677	B	0.029	0.27321	B	.	.	.	.	0.999996	0.08975	N	2.025	0.55430	M	2.84	0.10674	T	-2.75	0.71639	D	0.347	0.42050	-0.9024	0.47739	T	0.035	0.15117	T	9	0.007892251	0.00179	T	.	.	.	0.086	0.25016	.	.	0.126345400529	0.12197	0.03387732316318568	0.03335	0.00987268019295	0.00898	.	.	.	0.010277	0.10839	T	-0.307771	0.07946	T	-0.679868	0.06991	T	0.00946674713678386	0.00122	T	0.729327	0.49484	T	0.08315202	0.19188	0.08771763	0.20407	0.08315202	0.19188	0.08771763	0.20406	-6.515	0.50425	T	.	.	0.082	0.20741	B	.;.;.;.;.;.	.;.;.;.;.;.	1.353802	0.17619	13.27	0.20392931264867589	0.00731	0.33297	0.24794	N	AEFI	0.037230	0.05088	N	-0.909708983635535	0.10614	0.508056	-0.994187267957953	0.09914	0.4961313	1.20336686153666E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.79	0.676	0.17125	0.384000	0.20396	0.453000	0.18541	-0.806000	0.03109	0.859000	0.30595	0.001000	0.17328	0.012000	0.09680	0.0:0.7829:0.0:0.2171	4.490	0.11220	326	0.86709	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	491.14	35	chr19	42868780	.	C	T	491.14	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.482e+00;DP=2491;ExcessHet=0.1072;FS=2.717;InbreedingCoeff=-0.0513;MLEAC=2;MLEAF=0.048;MQ=51.06;MQRankSum=-1.102e+01;QD=0.61;ReadPosRankSum=-2.533e+00;SOR=1.053	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	19	0	2	0
chr19	42868881	42868881	C	T	exonic	PSG1	.	nonsynonymous SNV	PSG1:NM_001330524:exon3:c.G584A:p.R195Q	.	.	15	1459	46	2	0	50	0.0168464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.132	B	0.044	B	.	.	1.000	N	-0.345	N	2.99	T	-0.942	T	0.007	T	0.078	-0.336	2.408	-1.44	-0.781	0.482	2.353	0.013	0.000604984014835	0.0045	0.00259585	0.0053	0.0008	0.0047	0.0004	0.0017	0.0073	0.0046	0.0046	0.0019978	52	26028	rs148212160	0.0062	0.0062	0.0060	0.0063	0.0269	0.0061	0.0060	0.0230	0.0215	0.0015	0.0056	0.0290	7.566e-05	0.0017	0.0269	0.0062	0.0080	0.0045	0.0051	0.0051	0.0056	0.0045	0.0062	0.0048	0.0046	0.0057	0.0055	0.0009	0.0670	0.0058	0.0283	0.0002	0.0015	0.0204	0.0062	0.0090	0.0044	0.389	0.65419	T	0.39	0.33109	T	0.024	0.27209	B	0.023	0.23607	B	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	2.99	0.09262	T	0.04	0.08187	N	0.105	0.13198	-0.9417	0.42346	T	0.007	0.02321	T	9	0.0033926368	0.00059	T	6.05E-4	0.00274	T	0.013	0.01715	.	.	0.0666544352282	0.05500	0.086408958465541	0.08574	0.00866364585856	0.00788	.	.	.	5.36E-4	0.03393	T	-0.683374	0.00046	T	-0.75303	0.03369	T	3.38542813551612e-05	0.00000	T	0.70163	0.32905	T	0.029852921	0.02548	0.035667937	0.02861	0.029852921	0.02548	0.035667937	0.02861	-2.088	0.03533	T	.	.	0.077	0.13969	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.490925	0.01897	0.157	0.7445620437142858	0.10702	0.00188	0.01093	N	AEFI	0.024380	0.01501	N	-1.65265184355464	0.01024	0.04439887	-1.70450507736129	0.01118	0.05023568	1.53626025775916E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.63	-1.44	0.08391	0.571000	0.23372	0.432000	0.18335	-2.143000	0.00376	0.010000	0.18352	0.000000	0.08366	0.000000	0.00833	0.4426:0.2838:0.0:0.2736	2.353	0.04027	326	0.86709	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	6346.11	35	chr19	42868881	.	C	T	6346.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.88;DP=1560;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=43.93;MQRankSum=0.255;QD=13.19;ReadPosRankSum=0.375;SOR=0.681	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	19	0	2	0
chr19	42868932	42868932	T	G	exonic	PSG1	.	nonsynonymous SNV	PSG1:NM_001330524:exon3:c.A533C:p.Y178S	.	.	17	1499	4	2	0	8	0.00266134	.	.	2201496	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	.	.	1.000	N	3.88	H	2.55	T	-1.015	T	0.134	T	0.646	1.777	11.90	1.51	0.654	0.278	4.985	0.131	0.000591120611433	0.0018	0.000599042	0.0013	0.0003	0.0014	0	0	0.0020	0.0033	0.0002	0.0007684	20	26028	rs149977860	0.0016	0.0016	0.0016	0.0016	0.0042	0.0016	0.0016	0.0027	0.0023	0.0004	0.0017	0.0039	0	0.0002	0.0042	0.0018	0.0020	0.0005	0.0012	0.0012	0.0014	0.0011	0.0017	0.0011	0.0010	0.0014	0.0013	0.0003	0	0.0013	0.0069	0	9.441e-05	0.0068	0.0017	0.0033	0.0004	0.001	0.91255	D	0.025	0.57104	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.08975	N	2.985	0.85602	M	2.55	0.13795	T	-4.02	0.93999	D	0.492	0.52563	-1.0153	0.25240	T	0.134	0.44778	T	9	0.013652593	0.00289	T	5.91E-4	0.00260	T	0.131	0.35738	.	.	0.209622950755	0.20551	0.2765459755762992	0.27567	0.0463152719668	0.05031	.	.	.	0.013206	0.21454	T	-0.3712	0.03533	T	-0.324994	0.42024	T	0.0743179620431168	0.09245	T	0.873913	0.59828	D	0.68405384	0.77188	0.5369795	0.73243	0.68405384	0.77189	0.5369795	0.73243	-9.312	0.69701	D	.	.	0.287	0.55719	B	.;.;.;.;.;.	.;.;.;.;.;.	1.622116	0.20720	14.88	0.88773503032227863	0.18244	0.01291	0.04495	N	AEFI	0.027060	0.02143	N	-0.122673264950722	0.36406	2.103938	-0.499453950857699	0.22169	1.202804	2.5465997390203E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.51	1.51	0.22094	0.115000	0.15373	-1.297000	0.05784	0.293000	0.18814	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.0:1.0	4.985	0.13531	326	0.86709	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	4091.98	35	chr19	42868932	.	T	G	4091.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=1901;ExcessHet=0.0000;FS=1.781;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.09;MQRankSum=-2.446e+00;QD=9.30;ReadPosRankSum=1.47;SOR=0.579	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr19	42868984	42868984	T	G	exonic	PSG1	.	nonsynonymous SNV	PSG1:NM_001330524:exon3:c.A481C:p.N161H	.	.	13	1508	1	0	0	1	0.000331455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.455	P	0.367	B	.	.	1.000	N	0.175	N	2.64	T	-0.984	T	0.020	T	0.051	-0.301	2.563	-2.94	-1.032	-1.568	2.789	0.011	0.000652955346389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.056e-06	2.053e-06	0	4.133e-06	3.489e-05	5.5e-07	1.5e-07	9.27e-06	4.57e-06	0	0	0	0	0	0	0	0	3.489e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.46129	D	0.218	0.27855	T	0.014	0.23653	B	0.046	0.30104	B	.	.	.	.	1	0.08975	N	1.02	0.25474	L	2.64	0.12780	T	-0.66	0.41809	N	0.172	0.25867	-0.9837	0.34140	T	0.020	0.08453	T	9	0.061074167	0.07602	T	6.53E-4	0.00350	T	0.011	0.01250	0.329	0.31357	0.104622674875	0.10061	0.09620096268895202	0.09552	0.00877584801731	0.00795	.	.	.	0.001799	0.13004	T	-0.393714	0.02545	T	-0.803319	0.01821	T	0.082754595735735	0.10336	T	0.381762	0.09261	T	0.11646955	0.27469	0.088100895	0.20522	0.11646955	0.27469	0.088100895	0.20521	-5.75	0.44861	T	.	.	0.134	0.29422	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.326467	0.02504	0.295	0.67028273090581814	0.08232	0.00104	0.00666	N	AEFI	0.022071	0.01058	N	-1.34338746829215	0.03194	0.1422685	-1.47676993033981	0.02536	0.1167917	6.30900090283275E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.47	-2.94	0.05245	-0.846000	0.04444	-4.506000	0.02122	-0.819000	0.02980	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3377:0.255:0.4073	2.789	0.05052	326	0.86709	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4290.98	35	chr19	42868984	.	T	G	4290.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.270e-01;DP=1596;ExcessHet=0.0000;FS=1.200;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.52;MQRankSum=-7.965e+00;QD=6.68;ReadPosRankSum=0.078;SOR=0.784	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr19	42903721	42903721	T	G	exonic	PSG6	.	nonsynonymous SNV	PSG6:NM_002782:exon6:c.A1241C:p.E414A,	.	.	1233	287	2	0	0	2	0.00347222	0.0001	0.056	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.001	B	.	.	1.000	N	0.16	N	2.43	T	-0.948	T	0.019	T	0.462	-2.523	0.003	0.362	0.400	0.486	.	0.186	.	0.0006	0.00159744	0.0063	0	0.0026	0	0	0.0005	0.0061	0.0180	0.000815	126	154602	rs374452199	0.0009	0.0009	0.0006	0.0012	0.0116	0.0008	0.0008	0.0110	0.0107	6.91e-05	0.0003	4.196e-05	2.914e-05	0.0003	0.0054	0.0002	0.0011	0.0116	0.0007	0.0006	0.0004	0.0009	0.0127	0.0006	0.0005	0.0097	0.0087	0.0002	0	0.0003	0	0	0.0005	0.0075	0.0004	0	0.0127	0.714	0.03996	T	0.336	0.18232	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.045	0.08109	N	2.43	0.15261	T	-0.54	0.16598	N	0.136	0.13341	-0.9476	0.41380	T	0.019	0.08173	T	8	0.005422771	0.00119	T	0.001146	0.01410	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.020474457306254006	0.02000	.	.	.	.	.	0.002891	0.02288	T	-0.245288	0.14682	T	-0.590116	0.13655	T	0.00688147682305339	0.00078	T	0.227177	0.03016	T	0.05552023	0.10801	0.098171026	0.23394	0.05552023	0.10800	0.098171026	0.23394	-2.547	0.06111	T	.	.	0.101	0.17360	B	.	.	-0.066632	0.03845	0.827	0.059503319257704725	0.00017	0.00626	0.02758	N	AEFI	0.033580	0.04012	N	-1.2997599944225	0.03679	0.1647695	-1.3746850570994	0.03523	0.1645432	3.54382195650187E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.362	0.362	0.15348	0.516000	0.22523	-3.059000	0.03098	0.217000	0.18040	0.001000	0.13787	0.000000	0.08366	0.011000	0.09372	.	.	.	683	0.59664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	66.34	9	chr19	42903721	.	T	G	66.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.17;DP=378;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0261;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=6.03;ReadPosRankSum=0.789;SOR=1.179	GT:AD:DP:GQ:PL	0/0:20,0:20:54:0,54,810	19	0	1	1
chr19	42907615	42907615	C	T	exonic	PSG6	.	nonsynonymous SNV	PSG6:NM_001031850:exon4:c.G946A:p.G316S	.	.	11	1489	20	2	0	24	0.00799467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.093	B	0.054	B	.	.	1.000	P	-0.7	N	2.46	T	-0.955	T	0.000	T	0.29	-0.037	3.824	-2.06	-0.120	0.239	1.403	0.055	.	0.0008	0.033147	0.0149	0.0007	0.0074	0.1068	0	0.0012	0.0177	0.0424	0.0136609	2112	154602	rs76740241	0.0069	0.0069	0.0060	0.0078	0.1261	0.0068	0.0068	0.1232	0.1220	0.0008	0.0060	0.0110	0.1261	3.744e-05	0.0042	0.0006	0.0108	0.0373	0.0065	0.0066	0.0055	0.0075	0.1110	0.0062	0.0060	0.1034	0.1004	0.0009	0	0.0065	0.0118	0.1110	0	0	0.0006	0.0085	0.0380	0.722	0.03903	T	1.0	0.01155	T	0.093	0.25333	B	0.043	0.25828	B	.	.	.	.	1	0.08975	P	-0.095	0.04716	N	2.46	0.14907	T	-0.77	0.21429	N	0.054	0.02861	-0.9545	0.40185	T	0.000	0.00114	T	8	0.0036490262	0.00067	T	.	.	.	0.055	0.15663	.	.	.	.	0.10658892219979717	0.10588	.	.	.	.	.	0.004491	0.03897	T	-0.704286	0.00034	T	-0.654614	0.08633	T	0.000830535358571765	0.00008	T	0.609739	0.23084	T	0.03691879	0.04635	0.03691207	0.03233	0.03691879	0.04634	0.03691207	0.03232	-3.872	0.23428	T	.	.	0.106	0.22354	B	.;.	.;.	0.047780	0.04620	1.286	0.42825983019287289	0.03183	0.00010	0.00151	N	AEFI	0.017322	0.00447	N	-1.46130048375534	0.02129	0.09369935	-1.51703498599522	0.02213	0.101433	3.09077698063335E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.06	0.06894	0.316000	0.19217	-0.103000	0.11918	-0.393000	0.05333	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3275:0.2581:0.0:0.4144	1.403	0.02139	693	0.58582	.;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3793.98	34	chr19	42907615	.	C	T	3793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.260e-01;DP=1028;ExcessHet=0.0000;FS=0.424;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.15;MQRankSum=-1.537e+00;QD=12.60;ReadPosRankSum=-1.600e+00;SOR=0.647	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1356	20	0	1	0
chr19	42916188	42916188	G	A	exonic	PSG6	.	nonsynonymous SNV	PSG6:NM_001031850:exon2:c.C364T:p.H122Y	.	.	12	1467	36	7	0	50	0.016756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.93	P	0.83	P	.	.	1.000	N	1.555	L	-0.15	T	-0.830	T	0.225	T	0.21	1.416	10.67	-4.05	-0.447	-0.937	0.152	0.239	.	0.0012	0.00259585	0.0040	0.0002	0.0014	0	0.0002	0.0021	0.0044	0.0194	0.0034282	530	154602	rs139119415	0.0025	0.0025	0.0020	0.0031	0.0185	0.0025	0.0024	0.0178	0.0174	0.0003	0.0010	0.0033	5.044e-05	0.0001	0.0141	0.0016	0.0027	0.0185	0.0016	0.0017	0.0014	0.0019	0.0133	0.0015	0.0014	0.0107	0.0097	0.0001	0	0.0017	0.0009	0	0.0002	0.0171	0.0021	0.0010	0.0133	0.004	0.68238	D	0.047	0.72224	D	0.93	0.51791	P	0.758	0.59611	P	.	.	.	.	1	0.08975	N	2.32	0.66415	M	-0.15	0.65192	T	-1.86	0.45587	N	0.115	0.12770	-0.8301	0.53295	T	0.225	0.58881	T	9	0.006159097	0.00139	T	.	.	.	0.239	0.54358	.	.	0.176091768786	0.17195	0.06928119303869801	0.06866	.	.	.	.	.	0.072374	0.34437	T	-0.46887	0.00864	T	-0.452752	0.27393	T	0.0163900769818029	0.00407	T	0.626737	0.27137	T	0.087712385	0.20436	0.13352163	0.32015	0.087712385	0.20436	0.13352163	0.32014	-5.809	0.44653	T	.	.	0.087	0.18037	B	.;.;.;.	.;.;.;.	0.732079	0.11013	7.671	0.95392029452268079	0.26832	0.00242	0.01343	N	AEFGI	0.035754	0.04655	N	-0.81176743570302	0.13009	0.637949	-1.08289132577062	0.08037	0.3934445	0.00276824863812657	0.09691	0.554377	0.28877	0	0.547309	0.14657	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	2.24	-4.05	0.03730	-0.455000	0.06837	-14.841000	0.00384	-0.352000	0.05559	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.281:0.2257:0.2665:0.2268	0.152	0.00088	749	0.51929	.;Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	14172.08	33	chr19	42916188	.	G	A	14172.08	.	AC=2;AF=0.048;AN=42;DP=3790;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=59.99;QD=32.21;SOR=1.112	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	1	0	0
chr19	42916256	42916256	G	C	exonic	PSG6	.	nonsynonymous SNV	PSG6:NM_001031850:exon2:c.C296G:p.T99R	.	.	10	1498	14	0	0	14	0.00465116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.231	B	0.319	B	.	.	1.000	N	2.115	M	-0.25	T	-0.718	T	0.264	T	0.331	0.555	7.003	-0.034	0.236	-1.586	3.946	0.086	.	0.0026	0.00499201	0.0047	0.0008	0.0008	0	0.0003	0.0034	0.0055	0.0195	0.0044695	691	154602	rs143569741	0.0046	0.0046	0.0042	0.0049	0.0195	0.0045	0.0044	0.0187	0.0184	0.0007	0.0012	0.0011	5.044e-05	0.0003	0.0038	0.0041	0.0044	0.0195	0.0027	0.0027	0.0025	0.0028	0.0169	0.0025	0.0024	0.0139	0.0128	0.0010	0.0066	0.0008	0.0006	0	0.0003	0	0.0038	0.0028	0.0169	0.042	0.41637	D	0.069	0.43913	T	0.005	0.30614	B	0.024	0.41696	B	.	.	.	.	1	0.08975	N	2.625	0.76847	M	-0.25	0.67011	T	-3.06	0.72820	D	0.148	0.18920	-0.7183	0.59546	T	0.264	0.63480	T	9	0.0034293234	0.00060	T	.	.	.	0.086	0.25016	.	.	0.192905019026	0.18896	0.14506165333442325	0.14429	.	.	.	.	.	0.059195	0.31049	T	-0.449284	0.01140	T	-0.415807	0.31556	T	0.0544640921644639	0.06267	T	0.682432	0.29103	T	0.17627425	0.38532	0.13637933	0.32628	0.17627425	0.38531	0.13637933	0.32627	-7.364	0.56650	T	.	.	0.073	0.10835	B	.;.;.;.	.;.;.;.	0.006133	0.04325	1.097	0.90573760340463183	0.19828	0.00464	0.02234	N	AEFGI	0.040070	0.05907	N	-0.932405512763169	0.10090	0.4805695	-1.08778951031158	0.07940	0.3882797	3.33166649766369E-4	0.06583	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.24	-0.0342	0.13225	-2.360000	0.01163	-14.273000	0.00412	-0.447000	0.05153	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.409:0.0:0.591:0.0	3.946	0.08844	749	0.51929	.;Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	6612.98	33	chr19	42916256	.	G	C	6612.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.740e-01;DP=4026;ExcessHet=0.0000;FS=0.523;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.95;MQRankSum=-1.488e+00;QD=12.16;ReadPosRankSum=0.073;SOR=0.761	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr19	42929524	42929524	G	C	exonic	PSG7	.	nonsynonymous SNV	PSG7:NM_001206650:exon2:c.C261G:p.N87K	.	.	10	1462	47	3	0	53	0.0178032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0055	0.00439297	0.0059	0.0010	0.0048	0.0024	0.0017	0.0078	0.0066	0.0060	0.0055885	864	154602	rs146569565	0.0065	0.0065	0.0063	0.0066	0.0307	0.0064	0.0063	0.0270	0.0256	0.0016	0.0057	0.0291	0.0010	0.0017	0.0307	0.0064	0.0089	0.0057	0.0053	0.0054	0.0058	0.0049	0.0065	0.0050	0.0049	0.0060	0.0058	0.0009	0.0680	0.0058	0.0289	0.0023	0.0016	0.0204	0.0065	0.0085	0.0063	.	.	.	0.725	0.05256	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.07535	.	.	.	.	.	.	.	0.004633993	0.00097	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	0.08514320760388049	0.08448	.	.	0.434188365936	0.29781	T	0.003173	0.02576	T	-0.518392	0.00450	T	-0.507023	0.21621	T	.	.	.	0.0775922	0.01553	T	0.04992332	0.08939	0.08294131	0.18968	0.04992332	0.08938	0.08294131	0.18968	-0.974	0.00971	T	.	.	0.076	0.22573	B	.;.;.	.;.;.	-0.905720	0.00916	0.034	0.24092682129794563	0.01049	0.00005	0.00104	N	AEFBI	0.014013	0.00207	N	.	.	.	.	.	.	0.00201933433724678	0.09087	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	.	.	1.36	0.167	0.14292	0.309000	0.19094	-3.405000	0.02812	-1.286000	0.01263	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.6421:0.3579:0.0	5.471	0.15967	754	0.51307	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	6225.11	36	chr19	42929524	.	G	C	6225.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.792;DP=2945;ExcessHet=0.1072;FS=1.739;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=57.89;MQRankSum=-2.715e+00;QD=11.28;ReadPosRankSum=1.04;SOR=0.815	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1260	19	0	2	0
chr19	43071754	43071754	G	C	exonic	PSG2	.	nonsynonymous SNV	PSG2:NM_031246:exon4:c.C910G:p.R304G,	.	.	10	1508	4	0	0	4	0.0013245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.942	P	0.715	P	.	.	1.000	N	2.135	M	2.61	T	-1.053	T	0.051	T	0.262	0.651	7.492	0.146	0.659	0.124	3.058	0.026	0.000753579947189	.	0.000998403	0.0015	0.0003	0.0008	0.0002	0	0.0015	0.0033	0.0041	0.0012807	198	154602	rs143041939	0.0016	0.0016	0.0015	0.0016	0.0034	0.0015	0.0015	0.0031	0.0030	0.0003	0.0012	0.0018	0.0002	0.0002	0.0005	0.0016	0.0015	0.0034	0.0013	0.0013	0.0013	0.0013	0.0035	0.0012	0.0011	0.0023	0.0018	0.0004	0	0.0012	0.0014	0.0002	0	0	0.0021	0.0009	0.0035	0.105	0.29823	T	0.13	0.34716	T	0.942	0.52977	P	0.715	0.54683	P	.	.	.	.	1	0.08975	N	1.96	0.53105	M	2.61	0.13095	T	-2.52	0.54702	D	0.222	0.24883	-1.0529	0.13601	T	0.051	0.21533	T	9	0.020207375	0.00462	T	7.54E-4	0.00529	T	0.026	0.05648	.	.	0.271763555656	0.26798	0.1005504750690156	0.09986	0.0207818090016	0.02049	0.222210258245	0.01441	T	0.018751	0.15062	T	-0.584043	0.00182	T	-0.613503	0.11703	T	0.038150171744756	0.03359	T	0.829517	0.49484	T	0.12704152	0.29739	0.11887486	0.28695	0.12704152	0.29739	0.11887486	0.28694	-7.761	0.59430	D	.	.	0.216	0.44566	B	.	.	1.681062	0.21424	15.19	0.95561819963271788	0.27241	0.01229	0.04349	N	AEFDI	0.047252	0.07937	N	-0.449872193651092	0.23744	1.277243	-0.740167009202191	0.15964	0.8422206	1.65125136356796E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.26	0.146	0.14129	0.187000	0.16806	.	.	0.347000	0.19874	0.001000	0.13787	0.000000	0.08366	0.016000	0.10718	0.328:0.0:0.672:0.0	3.058	0.05818	726	0.54788	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	7815.98	34	chr19	43071754	.	G	C	7815.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.53;DP=1243;ExcessHet=0.0000;FS=3.220;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.99;ReadPosRankSum=1.59;SOR=0.875	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1232	20	0	1	0
chr19	43175352	43175352	T	C	exonic	PSG5	.	nonsynonymous SNV	PSG5:NM_001130014:exon4:c.A827G:p.N276S	.	.	11	1510	1	0	0	1	0.000331016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.986	D	0.99	D	.	.	1.000	N	2.415	M	2.57	T	-0.394	T	0.584	D	0.113	1.365	10.49	-0.21	-0.332	-0.704	3.447	0.153	0.00312319266317	.	0.000599042	0.0002	0	0	0	0	0	0.0022	0.0015	0.0002005	31	154602	rs537675354	0.0001	0.0001	5.175e-05	0.0002	0.0015	9.339e-05	8.822e-05	0.0013	0.0012	0	0	0	0	0	0	1.26e-05	0.0002	0.0015	4.613e-05	4.597e-05	5.159e-05	4.041e-05	0.0015	2.115e-05	1.53e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.002	0.72154	D	0.027	0.55341	D	0.936	0.52359	P	0.908	0.64494	P	.	.	.	.	1	0.08975	N	1.845	0.48678	L	-1.35	0.80035	T	-3.69	0.70432	D	0.179	0.19325	-0.3938	0.72222	T	0.584	0.85065	D	9	0.027979553	0.00936	T	0.003123	0.06786	T	0.153	0.40148	0.659	0.79689	0.650989611486	0.64808	0.01608729491796774	0.01564	0.180147681555	0.20266	.	.	.	0.006157	0.05598	T	-0.444378	0.01219	T	-0.430109	0.29923	T	0.172009851883303	0.18716	T	0.862314	0.82846	D	0.19293101	0.40982	0.1623577	0.37718	0.19293101	0.40982	0.1623577	0.37717	-6.758	0.52246	T	.	.	0.106	0.19478	B	.;.;.;.;.	.;.;.;.;.	0.898732	0.12724	9.246	0.9859375106068442	0.43414	0.00231	0.01293	N	AEFI	0.030796	0.03169	N	-0.45106145130432	0.23703	1.274801	-0.793369429164894	0.14658	0.7669994	1.67300880861564E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.25	-0.21	0.12529	-0.153000	0.10130	.	.	0.476000	0.22017	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2871:0.0:0.7129	3.447	0.07053	793	0.45818	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	5253.98	65	chr19	43175352	.	T	C	5253.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=1829;ExcessHet=0.0000;FS=0.528;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=-6.800e-01;SOR=0.773	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1620	20	0	1	0
chr19	43176069	43176069	T	G	exonic	PSG5	.	nonsynonymous SNV	PSG5:NM_001130014:exon3:c.A510C:p.E170D	.	.	11	1445	66	0	0	66	0.0223275	.	.	2340841	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.948	P	0.911	D	.	.	1.000	N	1.405	L	2.67	T	-1.031	T	0.038	T	0.182	0.369	6.004	0.1	0.527	-1.036	2.779	0.066	0.000670184073519	.	.	2.475e-05	9.716e-05	0	0	0	3.001e-05	0	0	3.84e-05	1	26028	rs200537553	2.743e-06	0.0003	1.365e-06	4.136e-06	9.005e-07	6.4e-07	4.3e-07	.	.	0	0	0	0	5.652e-05	0	9.005e-07	0	0	2.651e-05	0.0007	3.885e-05	1.358e-05	6.632e-05	8.2e-06	5.18e-06	4.91e-06	1.84e-06	0	0	6.632e-05	0	0	0	0	2.958e-05	0.0005	0	0.826	0.02913	T	0.283	0.21612	T	0.0	0.02946	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.71	0.44315	L	2.67	0.12473	T	-0.85	0.23156	N	0.162	0.25377	-1.0311	0.20099	T	0.038	0.16548	T	9	0.05737266	0.06580	T	6.7E-4	0.00383	T	0.066	0.19193	0.698	0.83499	0.16115917748	0.15686	0.10525158950099638	0.10455	0.0238137571014	0.02414	.	.	.	0.002523	0.01914	T	-0.313722	0.07424	T	-0.688417	0.06481	T	0.120045120196503	0.14434	T	0.564843	0.19943	T	0.06523243	0.13921	0.056585502	0.10137	0.06523243	0.13920	0.056585502	0.10137	-5.305	0.39993	T	.	.	0.203	0.44682	B	.;.;.;.;.	.;.;.;.;.	0.243443	0.06232	2.687	0.96375077285061395	0.29597	0.00284	0.01530	N	AEFI	0.034589	0.04311	N	-0.999019992406806	0.08625	0.4051179	-1.174052176649	0.06346	0.3051872	1.09731146299496E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.23	0.1	0.13817	-0.869000	0.04340	.	.	0.476000	0.22017	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.3406:0.0:0.6594	2.779	0.05026	798	0.45050	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2897.11	56	chr19	43176069	.	T	G	2897.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.991e+00;DP=3442;ExcessHet=0.1072;FS=0.793;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=52.47;MQRankSum=-1.000e+01;QD=2.76;ReadPosRankSum=4.81;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:411,0:411:99:.:.:0,120,1800	19	0	2	0
chr19	43176083	43176083	C	G	exonic	PSG5	.	nonsynonymous SNV	PSG5:NM_001130014:exon3:c.G496C:p.A166P	.	.	12	1476	34	0	0	34	0.0113865	.	.	2330906	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.664	P	0.71	P	.	.	1.000	N	2.47	M	2.66	T	-1.058	T	0.073	T	0.491	1.192	9.844	0.652	0.630	-1.921	.	0.125	0.00113651897482	.	.	1.649e-05	0	8.642e-05	0	0	1.5e-05	0	0	3.84e-05	1	26028	rs142461950	1.783e-05	0.0002	1.91e-05	1.654e-05	8.955e-05	1.24e-05	1.054e-05	2.987e-05	1.806e-05	0	8.955e-05	0	0	3.762e-05	0	1.621e-05	1.661e-05	1.161e-05	5.961e-05	0.0003	7.765e-05	4.07e-05	0.0002	3.1e-05	2.226e-05	2.288e-05	9.17e-06	4.887e-05	0	0.0001	0	0	0	0	4.433e-05	0.0005	0.0002	0.116	0.28395	T	0.182	0.29740	T	0.152	0.28062	B	0.303	0.41149	B	.	.	.	.	1	0.08975	N	2.47	0.71715	M	2.66	0.12575	T	-2.32	0.51478	N	0.245	0.35301	-1.0577	0.12337	T	0.073	0.29451	T	8	0.12919632	0.24581	T	0.001137	0.01410	T	0.125	0.34456	.	.	0.101711395817	0.09552	0.3601559712871728	0.35929	0.0801815698632	0.09021	.	.	.	0.010933	0.09820	T	-0.35202	0.04601	T	-0.546457	0.17668	T	0.234928263496648	0.22185	T	0.787421	0.42665	T	0.6860694	0.77298	0.6370779	0.78808	0.6860694	0.77299	0.6370779	0.78809	-8.509	0.64488	D	.	.	0.227	0.47535	B	.;.;.;.;.	.;.;.;.;.	-0.007313	0.04232	1.041	0.98644097184687929	0.44096	0.00577	0.02607	N	AEFI	0.057581	0.10738	N	-0.726610116541622	0.15276	0.7684609	-0.977350988520557	0.10295	0.5175824	1.48299913005432E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.652	0.652	0.16995	-1.711000	0.01987	.	.	-1.404000	0.01138	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	798	0.45050	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	1652.11	56	chr19	43176083	.	C	G	1652.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.196e+00;DP=3377;ExcessHet=0.1072;FS=0.777;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=54.11;MQRankSum=-1.170e+01;QD=1.72;ReadPosRankSum=0.211;SOR=0.843	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:411,0:411:99:.:.:0,120,1800	19	0	2	0
chr19	43186387	43186387	G	T	exonic	PSG5	.	nonsynonymous SNV	PSG5:NM_001130014:exon1:c.C19A:p.P7T	.	.	13	1507	2	0	0	2	0.00066313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.996	D	0.968	D	.	.	1.000	N	1.955	M	5.32	T	-1.040	T	0.012	T	0.246	0.222	5.200	-2.83	-0.789	-1.448	5.397	0.025	0.000511812910594	0.0013	0.000998403	0.0017	0.0003	0.0057	0	0	0.0019	0.0055	0.0003	0.0016365	253	154602	rs140275565	0.0019	0.0020	0.0020	0.0019	0.0036	0.0019	0.0019	0.0032	0.0030	0.0004	0.0036	0.0001	0	0.0003	0.0019	0.0022	0.0022	0.0005	0.0013	0.0013	0.0014	0.0011	0.0021	0.0011	0.0011	0.0017	0.0016	0.0004	0	0.0021	0	0	9.429e-05	0.0136	0.0019	0.0019	0.0006	0.052	0.39334	T	0.087	0.44106	T	0.996	0.68779	D	0.968	0.71741	D	.	.	.	.	1	0.08975	N	2.385	0.68708	M	5.32	0.33842	T	-4.83	0.87300	D	0.098	0.14480	-1.0398	0.17374	T	0.012	0.04747	T	9	0.005730301	0.00128	T	5.12E-4	0.00163	T	0.025	0.05312	.	.	0.276065633971	0.27208	0.2681405630419642	0.26727	0.0816263488406	0.09187	.	.	.	0.017115	0.14019	T	-0.549995	0.00292	T	-0.558801	0.16489	T	0.0419177379352302	0.04041	T	0.955004	0.82846	D	0.07530802	0.16959	0.11951649	0.28848	0.07530802	0.16959	0.11951649	0.28847	-8.805	0.66433	D	.	.	0.073	0.05188	B	.;.;.;.;.;.	.;.;.;.;.;.	0.753017	0.11226	7.859	0.75621911351738313	0.11146	0.00269	0.01464	N	AEFBHI	0.027424	0.02236	N	-0.786047923403124	0.13673	0.6752633	-1.08805447500017	0.07935	0.3880037	0.990889032900073	0.32301	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.41	-2.83	0.05425	-1.653000	0.02088	.	.	0.422000	0.20808	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.5394:0.0:0.4606:0.0	5.397	0.15575	798	0.45050	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3019.98	39	chr19	43186387	.	G	T	3019.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.230e-01;DP=1804;ExcessHet=0.0000;FS=0.940;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.86;MQRankSum=-2.038e+00;QD=11.44;ReadPosRankSum=-5.530e-01;SOR=0.609	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1427	20	0	1	0
chr19	43198032	43198032	G	A	exonic	PSG4	.	nonsynonymous SNV	PSG4:NM_001316339:exon2:c.C308T:p.A103V	.	.	25	1482	13	2	0	17	0.00570278	.	.	1220646	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.23	T	0.967	D	0.944	D	.	.	1.000	P	1.405	L	2.72	T	-1.068	T	0.002	T	0.223	1.309	10.29	-3.17	-0.697	-0.211	6.216	0.035	.	0.0004	0.0241613	0.0116	0.0003	0.0076	0.1561	0	0.0008	0.0080	0.0033	0.0101034	1562	154602	rs139058318	0.0044	0.0044	0.0045	0.0044	0.1471	0.0043	0.0043	0.1436	0.1422	0.0002	0.0066	0.0046	0.1471	0.0005	0.0012	0.0003	0.0084	0.0030	0.0059	0.0063	0.0050	0.0067	0.1509	0.0055	0.0054	0.1410	0.1371	0.0004	0	0.0084	0.0069	0.1509	0.0003	0	0.0004	0.0095	0.0052	0.08	0.33585	T	0.155	0.47828	T	0.877	0.56408	P	0.656	0.68059	P	.	.	.	.	1	0.08975	P	1.35	0.33515	L	2.72	0.11947	T	-1.62	0.52776	N	0.013	0.12627	-1.0679	0.09880	T	0.002	0.00738	T	8	0.0016472936	0.00020	T	.	.	.	0.035	0.08770	.	.	.	.	0.049528310396252426	0.04895	0.0273631188102	0.02796	0.310818076134	0.12031	T	0.009793	0.32465	T	-0.289288	0.09707	T	-0.653318	0.08723	T	0.0509393488020036	0.05665	T	0.839416	0.51368	T	0.054964136	0.10618	0.07272538	0.15721	0.054964136	0.10618	0.07272538	0.15721	-5.686	0.43569	T	.	.	0.135	0.38693	B	.;.;.;.;.	.;.;.;.;.	0.983393	0.13607	10.14	0.98715886229713856	0.45127	0.00181	0.01060	N	AEFI	0.030131	0.02974	N	-0.667138356201723	0.16963	0.8688534	-0.973182511535304	0.10390	0.5229903	2.43810031671997E-4	0.06141	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.96	-3.17	0.04882	-0.177000	0.09789	.	.	0.228000	0.18124	0.000000	0.06391	0.000000	0.08366	0.055000	0.15596	0.6917:0.0:0.3083:0.0	6.216	0.19866	819	0.41190	Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain;Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	5027.08	172	chr19	43198032	.	G	A	5027.08	.	AC=2;AF=0.048;AN=42;DP=2295;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=47.19;QD=31.42;SOR=1.244	GT:AD:DP:GQ:PL	0/0:185,0:185:99:0,120,1800	20	1	0	0
chr19	43267796	43267796	A	T	exonic	PSG9	.	nonsynonymous SNV	PSG9:NM_001301707:exon2:c.T418A:p.F140I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.165	B	0.079	B	.	.	1.000	N	0.405	N	2.82	T	-1.027	T	0.058	T	0.213	0.413	6.243	.	0.103	-1.554	.	0.000	0.00107078527148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.54683	D	0.104	0.46406	T	0.022	0.28508	B	0.075	0.28327	B	.	.	.	.	1	0.08975	N	0.29	0.10111	N	2.86	0.43672	T	-1.99	0.45949	N	0.236	0.32259	-1.0268	0.21494	T	0.058	0.24317	T	7	0.10529524	0.19454	T	0.001071	0.01239	T	0.000	0.00003	0.42	0.46200	0.0846915920261	0.08053	0.15720233502762043	0.15641	0.00478119465073	0.00421	0.414086461067	0.27022	T	0.027164	0.24209	T	-0.286134	0.10027	T	-0.648788	0.09039	T	0.0715567549269701	0.08867	T	0.512749	0.22935	T	0.08695116	0.20229	0.101692066	0.24351	0.08695116	0.20229	0.101692066	0.24350	-7.034	0.56650	T	.	.	0.110	0.33619	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.097146	0.14815	11.35	0.92038634082788506	0.21380	0.00191	0.01107	N	AEFBI	0.023902	0.01398	N	-1.25389289789893	0.04248	0.1913798	-1.37669928674594	0.03502	0.1634731	0.0463139666115677	0.14685	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-1.314000	0.02823	.	.	-1.178000	0.01389	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	830	0.39242	Immunoglobulin subtype;Immunoglobulin subtype;Immunoglobulin subtype;Immunoglobulin subtype;Immunoglobulin subtype;Immunoglobulin subtype;.;Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3409.98	33	chr19	43267796	.	A	T	3409.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.572e+00;DP=1015;ExcessHet=0.0000;FS=0.940;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=-1.034e+00;SOR=0.775	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1387	20	0	1	0
chr19	43362117	43362117	G	A	exonic	CD177	.	nonsynonymous SNV	CD177:NM_020406:exon9:c.G1111A:p.G371S,	.	.	407	1114	1	0	0	1	0.000448632	.	.	2197183	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0001	0	0.0005	0.00011	17	154602	rs756448661	8.69e-05	8.687e-05	8.033e-05	9.353e-05	0.0012	7.422e-05	6.97e-05	0.0006	0.0004	0	6.71e-05	0	0	0	0.0012	6.926e-05	0.0001	0.0004	5.918e-05	5.911e-05	3.856e-05	8.076e-05	0.0008	3.079e-05	2.211e-05	0.0003	0.0002	0	0	0	0	0	0	0	5.882e-05	0.0005	0.0008	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.898942	0.36125	D	.	.	.	.	.	.	.	.	.	0.521	0.55106	.	.	.	.	.	.	.	0.35770813	0.52480	T	.	.	.	.	.	.	.	0.191931220699	0.18833	0.7030174374622209	0.70242	.	.	0.390601396561	0.23755	T	.	.	.	-0.0555216	0.43605	T	-0.00701083	0.69880	D	.	.	.	0.663534	0.27241	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.603	0.69020	P	.	.	3.706963	0.52905	23.3	0.75113807620055828	0.10950	0.44578	0.27349	N	AEFDBCI	0.055398	0.10154	N	.	.	.	.	.	.	0.00197310555689982	0.09053	0.162113	0.03585	0	0.063388	0.01293	0	0.175069	0.04249	0	0.057018	0.00518	0	.	.	3.4	2.36	0.28258	1.977000	0.40211	.	.	0.564000	0.28548	0.898000	0.31380	1.000000	0.68203	0.073000	0.16832	0.135:0.0:0.865:0.0	6.420	0.20939	884	0.28482	Ly-6 antigen/uPA receptor-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4181.98	36	chr19	43362117	.	G	A	4181.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.85;DP=1042;ExcessHet=0.0000;FS=0.409;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=-8.120e-01;SOR=0.730	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1231	20	0	1	0
chr19	43475466	43475466	T	C	exonic	PHLDB3	.	nonsynonymous SNV	PHLDB3:NM_198850:exon16:c.A1867G:p.M623V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.002	B	0.011	B	0.000	N	1.000	D	2.38	M	-0.94	T	-0.509	T	0.337	T	0.49	2.948	15.83	3.33	1.009	5.655	8.458	0.452	0.0386895780091	.	.	1.668e-05	0.0001	0	0	0	0	0	6.066e-05	1.29e-05	2	154602	rs775325878	2.739e-06	2.736e-06	1.363e-06	4.13e-06	3.479e-05	6.4e-07	4.3e-07	9.24e-06	4.56e-06	2.99e-05	0	0	0	0	0	0	0	3.479e-05	1.316e-05	1.314e-05	0	2.693e-05	4.828e-05	2.19e-06	8.2e-07	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	0	0	0	0.047	0.40319	D	0.046	0.49120	D	0.002	0.09854	B	0.011	0.15521	B	0.000013	0.62929	N	0.062558	0.999993	0.58761	D	2.645	0.77386	M	-0.94	0.75325	T	-3.49	0.68056	D	0.325	0.36569	-0.5089	0.68327	T	0.337	0.70363	T	10	0.32264537	0.49612	T	0.03869	0.58371	D	0.452	0.75211	0.752	0.88237	0.604058420995	0.60089	0.6027615936755477	0.60207	0.117044079981	0.13196	0.547243475914	0.45468	T	0.542099	0.84340	D	-0.108921	0.34946	T	-0.157565	0.58571	T	0.415118098258972	0.29509	T	0.908009	0.67517	D	0.26284975	0.49348	0.34393567	0.60097	0.26284975	0.49348	0.34393567	0.60097	-13.103	0.89782	D	.	.	0.266	0.50063	B	.	.	3.671188	0.52203	23.2	0.97575857875612837	0.34708	0.84642	0.43727	D	ALL	0.628352	0.61047	D	-0.0464530302733078	0.39761	2.350029	0.0427592085181693	0.41723	2.511452	1.0	0.98316	0.789315	0.99827	0	0.768056	0.99558	0	0.64067	0.45733	0	0.249971	0.05119	0	.	.	4.35	3.33	0.37245	5.060000	0.64142	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0943:0.0:0.9057	8.458	0.32074	884	0.28482	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|PHLDB1/2/3, PH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1653.98	45	chr19	43475466	.	T	C	1653.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.700;DP=917;ExcessHet=0.0000;FS=3.749;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.47;ReadPosRankSum=1.22;SOR=1.027	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1343	20	0	1	0
chr19	43554776	43554776	G	T	exonic	XRCC1	.	nonsynonymous SNV	XRCC1:NM_006297:exon4:c.C284A:p.S95Y,	.	.	402	1119	1	0	0	1	0.000446628	.	.	2207627	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.52	M	1.93	T	-0.793	T	0.164	T	0.878	3.981	20.4	3.88	1.356	6.697	11.630	0.437	0.0718869556651	.	.	8.281e-06	9.658e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs200146769	2.738e-06	2.736e-06	0	5.505e-06	2.7e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.7e-06	1.657e-05	0	2.628e-05	2.627e-05	2.569e-05	2.69e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.413e-05	0	0	0	0	0	0	4.41e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	0.997	0.70673	D	0.995	0.83170	D	0.000003	0.62929	D	0.107006	0.999947	0.52396	D	.	.	.	1.93	0.22881	T	-5.08	0.82896	D	0.936	0.94196	-0.7933	0.55537	T	0.164	0.50176	T	10	0.80167305	0.79560	D	0.071887	0.71389	D	0.437	0.74164	0.691	0.82843	0.596401026678	0.59319	0.7169854114893889	0.71641	0.926345379218	0.71657	0.817588686943	0.84658	D	0.146323	0.48388	T	0.0922144	0.63437	D	0.0762111	0.75326	D	0.991537690162659	0.81842	D	0.946005	0.86758	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.876	0.87259	P	.;.;.;.	.;.;.;.	4.556059	0.71747	25.7	0.99500926887580587	0.68031	0.90345	0.51447	D	AEFDBCI	0.732783	0.67943	D	0.695043619851654	0.79309	7.050296	0.624841073247819	0.76748	6.54865	0.899047277932616	0.26041	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.92	3.88	0.43959	6.873000	0.75341	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0897:0.0:0.9103:0.0	11.630	0.50427	889	0.27310	.;DNA-repair protein Xrcc1, N-terminal;DNA-repair protein Xrcc1, N-terminal;DNA-repair protein Xrcc1, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	977.98	119	chr19	43554776	.	G	T	977.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=805;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.22;ReadPosRankSum=0.873;SOR=0.696	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1296	20	0	1	0
chr19	43613809	43613809	C	T	exonic	SRRM5	.	nonsynonymous SNV	SRRM5:NM_001145641:exon1:c.C1688T:p.P563L,	.	.	420	1085	17	0	0	17	0.00777321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.793	P	0.422	B	.	.	1.000	N	0.895	L	.	.	-1.071	T	0.054	T	0.131	2.156	13.17	2.69	1.342	-0.697	8.668	0.029	0.0153751566796	0.0024	0.00199681	0.0055	0.0014	0.0082	0.0019	0	0.0077	0	0.0044	0.0014036	217	154602	rs189487564	0.0044	0.0042	0.0044	0.0044	0.0172	0.0043	0.0043	0.0145	0.0134	0.0007	0.0049	0.0154	0.0003	0.0009	0.0172	0.0042	0.0072	0.0060	0.0033	0.0032	0.0031	0.0034	0.0064	0.0030	0.0029	0.0047	0.0043	0.0007	0	0.0056	0.0161	0.0006	0.0002	0.0068	0.0040	0.0066	0.0064	0.007	0.59928	D	0.01	0.65728	D	0.793	0.44725	P	0.422	0.45143	B	.	.	.	.	0.999999	0.08975	N	0.975	0.24501	L	.	.	.	-4.68	0.79659	D	0.224	0.25130	-1.0707	0.09260	T	0.054	0.22693	T	8	0.005734563	0.00128	T	0.015375	0.36078	T	0.029	0.06676	.	.	0.104622674875	0.10061	0.019280012861044506	0.01881	0.0417772331007	0.04490	0.200203061104	0.00463	T	0.02123	0.16569	T	-0.570039	0.00221	T	-0.59037	0.13634	T	0.0468255951324705	0.04933	T	0.530647	0.17608	T	0.049736846	0.08879	0.08718135	0.20249	0.049736846	0.08878	0.08718135	0.20248	-6.677	0.51637	T	.	.	0.205	0.43325	B	.;.	.;.	1.128449	0.15150	11.63	0.98062548651974801	0.37960	0.06784	0.12808	N	AEFBI	0.054408	0.09890	N	-0.585054194560243	0.19397	1.014898	-0.692573163760456	0.17145	0.9103878	1.94930341135553E-4	0.05898	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	4.8	2.69	0.30923	-0.702000	0.05171	.	.	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.811:0.0:0.189	8.668	0.33294	895	0.25842	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	9817.11	36	chr19	43613809	.	C	T	9817.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.89;DP=2464;ExcessHet=0.1072;FS=4.067;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=0.020;SOR=0.981	GT:AD:DP:GQ:PL	0/0:302,0:302:99:0,120,1800	19	0	2	0
chr19	43873448	43873448	G	A	exonic	ZNF404	.	stopgain	ZNF404:NM_001033719:exon2:c.C757T:p.R253X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	0.666	7.566	2.56	1.421	-0.453	3.301	.	.	.	0.000199681	4.993e-05	0	0.0003	0.0001	0	3.009e-05	0	0	6.47e-05	10	154602	rs553935311	3.558e-05	3.557e-05	2.996e-05	4.127e-05	0.0003	2.763e-05	2.502e-05	0.0002	0.0001	0	0.0003	0	0.0001	0	0	2.519e-05	8.284e-05	2.319e-05	6.575e-05	6.564e-05	6.432e-05	6.725e-05	0.0010	3.519e-05	2.618e-05	0.0004	0.0002	7.227e-05	0	0	0	0.0010	0	0	2.944e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.031	0.00770	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0999046	0.64281	D	0.207451	0.83531	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	5.709883	0.93164	33	0.9952932811950691	0.69777	0.00249	0.01374	N	AEFGBCI	0.054398	0.09887	N	0.168249409463448	0.49678	3.165591	-0.224617382529198	0.30656	1.727974	0.0153396575346067	0.12702	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	2.56	2.56	0.29842	-0.797000	0.04675	.	.	-0.428000	0.05209	0.000000	0.06391	0.000000	0.08366	0.042000	0.14466	0.1454:0.0:0.5951:0.2595	3.301	0.06571	895	0.25842	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2363.98	42	chr19	43873448	.	G	A	2363.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.42;DP=1750;ExcessHet=0.0000;FS=1.726;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=-3.540e-01;SOR=0.855	GT:AD:DP:GQ:PL	0/0:88,0:88:99:0,120,1800	20	0	1	0
chr19	43914999	43914999	C	T	exonic	ZNF45	.	nonsynonymous SNV	ZNF45:NM_003425:exon10:c.G437A:p.S146N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.015	B	0.004	B	0.565	N	1.000	N	1.09	L	2.35	T	-0.979	T	0.032	T	0.04	-0.063	3.694	0.91	0.407	0.746	6.594	0.040	0.00312665278992	.	.	1.661e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs763889724	2.751e-06	4.788e-06	4.099e-06	1.385e-06	9.047e-05	6.4e-07	4.3e-07	2.397e-05	1.264e-05	9.047e-05	0	0	0	0	0	9.038e-07	0	0	1.971e-05	1.97e-05	3.853e-05	0	7.236e-05	5.24e-06	2.45e-06	1.919e-05	1.032e-05	7.236e-05	0	0	0	0	0	0	0	0	0	0.572	0.06145	T	0.108	0.37589	T	0.015	0.17086	B	0.004	0.10090	B	0.565193	0.05447	N	1.329360	1	0.08975	N	0.51	0.13489	N	2.35	0.16217	T	-0.35	0.12847	N	0.034	0.01135	-0.9790	0.35231	T	0.032	0.13811	T	10	0.059865475	0.07264	T	0.003127	0.06815	T	0.040	0.10527	.	.	0.215109475489	0.21095	0.1130057698155615	0.11228	0.169148134631	0.19067	0.231817916036	0.02105	T	0.020822	0.16323	T	-0.537667	0.00346	T	-0.773429	0.02657	T	0.0105001855562884	0.00145	T	0.0842916	0.09420	T	0.027025934	0.01838	0.036350884	0.03066	0.027025934	0.01838	0.036350884	0.03065	-5.867	0.45153	T	.	.	0.083	0.14108	B	.;.;.;.	.;.;.;.	0.451688	0.08217	4.955	0.46030335872620071	0.03657	0.03672	0.08936	N	AEFBI	0.029240	0.02725	N	-1.07575094694542	0.07092	0.3284514	-1.14943610364949	0.06778	0.327421	0.00284738656738171	0.09746	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.97	0.91	0.18466	0.939000	0.28576	.	.	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.8342:0.0:0.1658	6.594	0.21856	861	0.33516	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	96.98	44	chr19	43914999	.	C	T	96.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.907e+00;DP=1216;ExcessHet=0.0000;FS=112.697;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.93;ReadPosRankSum=1.11;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485	20	0	1	0
chr19	43915003	43915003	A	G	exonic	ZNF45	.	nonsynonymous SNV	ZNF45:NM_003425:exon10:c.T433C:p.F145L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.0	B	0.001	B	0.264	N	1.000	N	1.805	L	1.01	T	-0.988	T	0.090	T	0.098	0.299	5.620	1.35	0.593	-0.060	5.295	0.038	0.00769626429319	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1384583909	6.881e-07	1.368e-06	0	1.385e-06	2.274e-05	0	0	.	.	0	2.274e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.202	0.27414	T	0.0	0.02946	B	0.001	0.04355	B	0.263507	0.15267	N	0.483859	1	0.08975	N	2.275	0.64647	M	1.01	0.41058	T	-0.84	0.22944	N	0.164	0.18376	-0.9877	0.33175	T	0.090	0.34573	T	10	0.094732106	0.16866	T	0.007696	0.20431	T	0.038	0.09825	0.402	0.43245	0.235664433957	0.23186	0.12031759696109624	0.11958	0.213602836398	0.23874	0.334945380688	0.15680	T	0.035438	0.23719	T	-0.368212	0.03685	T	-0.683822	0.06753	T	0.0350863611179524	0.02822	T	0.0770923	0.09368	T	0.05302415	0.09975	0.03890542	0.03862	0.05302415	0.09975	0.03890542	0.03862	-3.275	0.13417	T	.	.	0.333	0.68334	B	.;.;.;.	.;.;.;.	0.469238	0.08386	5.142	0.45021709716704789	0.03503	0.08434	0.14363	N	AEFBI	0.031285	0.03311	N	-1.04982718632548	0.07591	0.3531383	-1.11553569626414	0.07403	0.3599641	0.00212158374293667	0.09174	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.68	1.35	0.21078	0.579000	0.23490	.	.	-0.659000	0.04360	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5556:0.3441:0.1003:0.0	5.295	0.15059	861	0.33516	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	306.68	44	chr19	43915003	.	A	G	306.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.810e+00;DP=1228;ExcessHet=0.3300;FS=119.091;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.94;ReadPosRankSum=1.28;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485	18	0	3	0
chr19	43991910	43991910	G	A	exonic	ZNF155	.	nonsynonymous SNV	ZNF155:NM_001260486:exon4:c.G211A:p.A71T	.	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.044	B	0.027	B	.	.	1.000	N	1.37	L	3.49	T	-0.963	T	0.015	T	0.061	0.493	6.676	1.64	1.202	0.042	6.716	0.030	0.000617934799173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.736e-06	2.723e-06	1.375e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	0.18122	T	0.537	0.11691	T	0.044	0.21686	B	0.027	0.21085	B	.	.	.	.	1	0.08975	N	0.675	0.16386	N	5.32	0.05188	T	-1.58	0.38151	N	0.166	0.17966	-0.9628	0.38645	T	0.015	0.06090	T	9	0.075161904	0.11581	T	6.18E-4	0.00303	T	0.030	0.07022	0.293	0.25560	0.112648838833	0.10856	0.01597857260087992	0.01553	0.0365107702582	0.03864	0.225918754935	0.01680	T	0.004198	0.03611	T	-0.37331	0.03430	T	-0.77401	0.02639	T	0.0426595354315809	0.04176	T	0.205679	0.02659	T	0.034619763	0.03919	0.063095294	0.12448	0.034619763	0.03918	0.063095294	0.12447	-6.006	0.46330	T	.	.	0.072	0.12132	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.471152	0.08407	5.163	0.76172498514546483	0.11361	0.06059	0.12030	N	AEFBCI	0.024760	0.01583	N	-0.944018625919644	0.09827	0.4668567	-1.03455082915869	0.09031	0.4471178	0.00624437824222985	0.11166	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.64	1.64	0.22949	-0.118000	0.10665	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.282000	0.24066	0.0:0.0:1.0:0.0	6.716	0.22492	630	0.65016	Krueppel-associated box;Krueppel-associated box;Krueppel-associated box;.;Krueppel-associated box;Krueppel-associated box;Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	10232.11	299	chr19	43991910	.	G	A	10232.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.480e-01;DP=3912;ExcessHet=0.1072;FS=1.722;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=1.00;SOR=0.744	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	19	0	2	0
chr19	43996559	43996559	-	GAGCAATGTGGGAAAGGTTTCAGTCGTA	exonic	ZNF155	.	frameshift insertion	ZNF155:NM_001260486:exon5:c.702_703insGAGCAATGTGGGAAAGGTTTCAGTCGTA:p.S245Afs*9	.	.	412	1104	6	0	0	6	0.00271003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4994.94	217	chr19	43996559	.	T	TGAGCAATGTGGGAAAGGTTTCAGTCGTA	4994.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=4624;ExcessHet=0.0000;FS=1.537;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.82;MQRankSum=-3.879e+00;QD=20.39;ReadPosRankSum=-6.680e-01;SOR=0.773	GT:AD:DP:GQ:PL	0/0:208,0:208:99:0,120,1800	20	0	1	0
chr19	44011364	44011364	A	G	exonic	ZNF230	.	nonsynonymous SNV	ZNF230:NM_006300:exon5:c.A1325G:p.H442R,	.	.	440	1076	5	1	0	7	0.00324224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.001	B	0.003	B	.	.	1.000	D	4.145	H	1.59	T	-0.913	T	0.141	T	0.234	1.576	11.22	1.5	0.209	1.502	6.790	0.159	0.00157214353116	.	.	1.66e-05	0	0	0	0	1.509e-05	0	6.063e-05	1.29e-05	2	154602	rs770936756	1.642e-05	1.642e-05	1.497e-05	1.788e-05	0.0002	1.111e-05	9.33e-06	1.175e-05	9.55e-06	0	2.236e-05	0	0	0	0.0002	1.799e-05	1.656e-05	1.16e-05	6.568e-06	6.566e-06	0	1.345e-05	6.541e-05	0	0	.	.	0	0	6.541e-05	0	0	0	0	0	0	0	0.013	0.53900	D	0.002	0.79402	D	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	0.999993	0.08975	N	4.07	0.97156	H	1.59	0.28836	T	-6.79	0.92863	D	0.17	0.18103	-0.9134	0.46428	T	0.141	0.46072	T	9	0.1297327	0.24687	T	0.001572	0.02497	T	0.159	0.41286	0.466	0.53729	0.259272394797	0.25527	0.03290536355076539	0.03238	0.154306874137	0.17424	0.348929315805	0.17765	T	0.151736	0.49181	T	-0.2546	0.13539	T	-0.506637	0.21661	T	0.177938048459163	0.19104	T	0.39556	0.09932	T	0.16275512	0.36372	0.19567868	0.43258	0.16275512	0.36372	0.19567868	0.43257	-6.062	0.46795	T	.	.	0.076	0.05890	B	.	.	0.444720	0.08149	4.881	0.66919653141000479	0.08200	0.00113	0.00716	N	AEFBCI	0.055869	0.10283	N	-0.809553060770685	0.13065	0.6410902	-0.957673118239309	0.10746	0.5431695	0.0115593246302031	0.12202	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	2.55	1.5	0.22029	0.884000	0.27851	.	.	-0.589000	0.04658	0.000000	0.06391	0.005000	0.19230	0.004000	0.06068	0.8735:0.0:0.1265:0.0	6.790	0.22882	599	0.68140	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2769.11	33	chr19	44011364	.	A	G	2769.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.606;DP=926;ExcessHet=0.1072;FS=1.584;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=-3.230e-01;SOR=0.593	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1193	19	0	2	0
chr19	44011406	44011406	G	A	exonic	ZNF230	.	nonsynonymous SNV	ZNF230:NM_006300:exon5:c.G1367A:p.R456H,	.	.	455	1060	7	0	0	7	0.00329102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.791	P	.	.	1.000	D	1.185	L	2.41	T	-1.115	T	0.036	T	0.083	3.787	19.23	0.908	0.347	0.074	7.203	0.058	0.00118461041216	0.0032	0.00139776	0.0028	0.0005	0.0011	0.0005	0.0018	0.0036	0	0.0035	0.0028331	438	154602	rs141922155	0.0042	0.0042	0.0041	0.0043	0.0047	0.0041	0.0041	0.0046	0.0045	0.0008	0.0019	0.0052	0.0001	0.0024	0.0007	0.0047	0.0032	0.0041	0.0033	0.0033	0.0035	0.0031	0.0054	0.0030	0.0029	0.0049	0.0047	0.0007	0	0.0031	0.0069	0	0.0016	0	0.0054	0.0024	0.0027	0.13	0.26740	T	0.09	0.40267	T	0.997	0.70673	D	0.791	0.57754	P	.	.	.	.	0.995276	0.23330	N	1.555	0.39373	L	2.41	0.15492	T	-0.6	0.17834	N	0.029	0.00666	-1.1145	0.02710	T	0.036	0.15465	T	9	0.012740195	0.00273	T	0.001185	0.01509	T	0.058	0.16647	.	.	0.289847578895	0.28608	0.01977654127965355	0.01930	0.578436699546	0.53752	0.209166675806	0.00776	T	0.007975	0.07346	T	-0.664748	0.00059	T	-0.72586	0.04517	T	0.0159630912259395	0.00379	T	0.328467	0.06836	T	0.027876174	0.02041	0.035562873	0.02832	0.027876174	0.02041	0.035562873	0.02832	-5.268	0.39625	T	.	.	0.110	0.21315	B	.	.	1.497956	0.19258	14.17	0.99749932736054747	0.84152	0.00036	0.00313	N	AEFBCI	0.051627	0.09138	N	-0.369747057008027	0.26553	1.450017	-0.579866756507505	0.20018	1.076673	0.0100973858468435	0.11966	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	1.99	0.908	0.18455	-0.048000	0.11898	.	.	0.569000	0.28856	0.000000	0.06391	0.000000	0.08366	0.100000	0.18284	0.1628:0.0:0.8372:0.0	7.203	0.25065	599	0.68140	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1376.98	33	chr19	44011406	.	G	A	1376.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.607e+00;DP=809;ExcessHet=0.0000;FS=1.772;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.81;ReadPosRankSum=0.039;SOR=0.496	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1193	20	0	1	0
chr19	44086698	44086698	G	T	exonic	ZNF284	.	nonsynonymous SNV	ZNF284:NM_001037813:exon5:c.G1220T:p.R407I,	.	.	426	1089	7	0	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.507	P	0.251	B	.	.	1.000	N	1.745	L	2.11	T	-1.003	T	0.029	T	0.143	1.348	10.43	-3.08	-0.303	-0.907	1.290	0.018	0.00112853160472	0.0032	0.00139776	0.0026	0.0004	0.0011	0.0001	0.0017	0.0036	0	0.0032	0.0027361	423	154602	rs192483922	0.0041	0.0041	0.0040	0.0041	0.0045	0.0040	0.0039	0.0044	0.0044	0.0007	0.0015	0.0051	0.0001	0.0023	0.0007	0.0045	0.0029	0.0039	0.0029	0.0029	0.0032	0.0027	0.0049	0.0027	0.0026	0.0045	0.0043	0.0006	0	0.0022	0.0069	0	0.0016	0	0.0049	0.0019	0.0027	0.011	0.55530	D	0.06	0.45744	T	0.507	0.37264	P	0.251	0.39041	B	.	.	.	.	1	0.08975	N	1.665	0.42610	L	2.11	0.19860	T	-1.35	0.33598	N	0.157	0.16308	-1.0030	0.29050	T	0.029	0.12234	T	9	0.008793741	0.00199	T	0.001129	0.01385	T	0.018	0.03083	.	.	0.117506650769	0.11410	0.04932101501447625	0.04875	0.0765624021012	0.08593	0.276010513306	0.06943	T	0.002266	0.01662	T	-0.585759	0.00178	T	-0.613638	0.11691	T	0.00352978434269478	0.00037	T	0.767423	0.39577	T	0.04909126	0.08663	0.08429646	0.19382	0.04909126	0.08663	0.08429646	0.19382	-5.344	0.40376	T	.	.	0.118	0.23986	B	.	.	1.493628	0.19208	14.15	0.91581046666860466	0.20862	0.05863	0.11809	N	AEFBI	0.030152	0.02980	N	-0.991292101426629	0.08789	0.4134385	-1.19101242835643	0.06060	0.2905255	2.49233569194229E-4	0.06141	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	2.59	-3.08	0.05022	0.143000	0.15936	.	.	-0.230000	0.07744	0.000000	0.06391	0.000000	0.08366	0.219000	0.22435	0.3343:0.1454:0.3736:0.1467	1.290	0.01933	670	0.60992	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2021.98	83	chr19	44086698	.	G	T	2021.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.544e+00;DP=1570;ExcessHet=0.0000;FS=6.739;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=0.556;SOR=0.578	GT:AD:DP:GQ:PL	0/0:92,0:92:99:0,120,1800	20	0	1	0
chr19	44106734	44106734	C	T	exonic	ZNF224	.	nonsynonymous SNV	ZNF224:NM_001321645:exon6:c.C574T:p.R192C	.	.	418	1099	5	0	0	5	0.00226963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.227	B	0.077	B	.	.	1.000	N	1.355	L	1.95	T	-0.988	T	0.033	T	0.125	1.992	12.62	-0.215	0.197	-2.236	0.356	0.016	0.00180476308206	7.7e-05	0.00159744	0.0009	0	0	0	0	3.039e-05	0.0034	0.0072	0.0007438	115	154602	rs370083464	0.0005	0.0005	0.0003	0.0007	0.0071	0.0004	0.0004	0.0066	0.0064	8.979e-05	4.496e-05	3.881e-05	0.0001	0	0.0017	3.514e-05	0.0004	0.0071	0.0003	0.0003	0.0001	0.0005	0.0081	0.0003	0.0002	0.0061	0.0054	0.0001	0	0	0	0.0002	0	0	2.94e-05	0.0014	0.0081	0.13	0.26740	T	0.094	0.39645	T	0.227	0.30477	B	0.077	0.28532	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	1.95	0.22474	T	-2.37	0.52289	N	0.066	0.03841	-0.9875	0.33224	T	0.033	0.14334	T	9	0.0056141615	0.00124	T	0.001805	0.03089	T	0.016	0.02506	.	.	0.203808441222	0.19973	0.027541311519720963	0.02704	0.12895111221	0.14542	0.199259132147	0.00435	T	0.016619	0.13705	T	-0.623399	0.00105	T	-0.6648	0.07946	T	0.0401297959322727	0.03714	T	0.152285	0.01295	T	0.060871076	0.12541	0.05805006	0.10660	0.060871076	0.12541	0.05805006	0.10660	-5.799	0.44566	T	.	.	0.130	0.27851	B	.	.	2.638606	0.34328	19.60	0.96285854470709042	0.29298	0.07864	0.13855	N	AEFGBCI	0.117223	0.22974	N	-0.834514853072959	0.12435	0.6060745	-0.927296939195573	0.11451	0.5834497	0.00757453496797421	0.11497	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.35	-0.215	0.12510	-1.014000	0.03752	.	.	0.544000	0.25403	0.000000	0.06391	0.000000	0.08366	0.409000	0.26983	0.3371:0.2762:0.165:0.2217	0.356	0.00331	610	0.67008	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3906.98	208	chr19	44106734	.	C	T	3906.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.03;DP=4625;ExcessHet=0.0000;FS=1.932;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=0.192;SOR=0.575	GT:AD:DP:GQ:PL	0/0:281,0:281:99:0,120,1800	20	0	1	0
chr19	44156264	44156264	A	G	exonic	ZNF234	.	nonsynonymous SNV	ZNF234:NM_001144824:exon6:c.A248G:p.Q83R	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.993	D	0.968	D	.	.	1.000	N	0.39	N	3.44	T	-1.016	T	0.019	T	0.318	3.199	16.71	-1.31	-0.463	-0.477	4.89	0.078	0.00275052414931	8e-05	.	0.0002	0	0.0002	0	0.0002	0.0002	0	0.0004	0.000194	30	154602	rs200302391	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0005	0.0004	6.453e-05	0.0001	0	2.535e-05	7.849e-05	0	0.0003	0.0002	0.0006	0.0002	0.0002	0.0002	0.0002	0.0014	0.0001	0.0001	0.0007	0.0005	2.405e-05	0	0	0	0	0	0	0.0003	0	0.0014	0.312	0.13925	T	0.586	0.08332	T	0.993	0.65571	D	0.968	0.71741	D	.	.	.	.	1	0.08975	N	2.265	0.64440	M	3.44	0.05375	T	-1.63	0.39119	N	0.123	0.11483	-1.0158	0.25078	T	0.019	0.07846	T	9	0.064894944	0.08675	T	0.002751	0.05694	T	0.078	0.22779	.	.	0.402471007487	0.39861	0.019531885081378413	0.01907	0.109034511512	0.12296	0.214012622833	0.00993	T	0.004634	0.04039	T	-0.506659	0.00524	T	-0.597964	0.12982	T	0.0380275457280497	0.03336	T	0.147585	0.01223	T	0.026663667	0.01752	0.082304746	0.18774	0.026663667	0.01752	0.082304746	0.18773	-4.964	0.36447	T	.	.	0.069	0.03162	B	.;.	.;.	1.797144	0.22847	15.78	0.98275628090387646	0.39805	0.05052	0.10841	N	AEFDBCI	0.058916	0.11088	N	-0.746293008128647	0.14733	0.7364827	-0.895779618366162	0.12193	0.6258082	0.0022733904639613	0.09286	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.9	-1.31	0.08749	-0.884000	0.04273	.	.	-0.205000	0.08568	0.000000	0.06391	0.000000	0.08366	0.973000	0.55318	0.3868:0.3264:0.0:0.2868	4.89	0.13079	835	0.38313	Krueppel-associated box;Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	1827.11	92	chr19	44156264	.	A	G	1827.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.210;DP=821;ExcessHet=0.1072;FS=0.608;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=1.59;SOR=0.765	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1117	19	0	2	0
chr19	44157362	44157362	C	T	exonic	ZNF234	.	nonsynonymous SNV	ZNF234:NM_001144824:exon6:c.C1346T:p.A449V	.	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.103	B	0.047	B	.	.	1.000	N	0.44	N	3.45	T	-0.929	T	0.011	T	0.029	-0.142	3.304	0.606	0.413	-0.677	4.926	0.028	0.00217007983397	.	0.00119808	0.0007	0	8.654e-05	0	0	0	0	0.0048	0.0005757	89	154602	rs200416333	0.0003	0.0003	0.0002	0.0004	0.0044	0.0002	0.0002	0.0040	0.0039	0	0	0	0	0	0.0003	8.994e-07	0.0003	0.0044	0.0002	0.0002	3.857e-05	0.0003	0.0050	0.0001	9.7e-05	0.0034	0.0029	2.407e-05	0	0	0	0	0	0	0	0	0.0050	1.0	0.00964	T	0.346	0.17696	T	0.103	0.25884	B	0.047	0.24832	B	.	.	.	.	1	0.08975	N	-0.915	0.01320	N	3.45	0.05311	T	1.56	0.00685	N	0.047	0.01911	-0.9288	0.44313	T	0.011	0.03949	T	9	0.0058014393	0.00129	T	0.00217	0.04071	T	0.028	0.06331	.	.	0.285316908763	0.28143	0.018705925976338113	0.01824	0.430749926923	0.43306	0.26630923152	0.05666	T	0.001439	0.00900	T	-0.747373	0.00018	T	-0.845785	0.01015	T	0.0518936223871702	0.05829	T	0.851815	0.53646	D	0.016544238	0.00205	0.09570097	0.22708	0.016544238	0.00205	0.09570097	0.22708	-0.672	0.00700	T	.	.	0.202	0.42635	B	.;.	.;.	0.515701	0.08847	5.624	0.88922531383391779	0.18364	0.04653	0.10326	N	AEFBI	0.031485	0.03379	N	-0.864144567652344	0.11704	0.5662627	-0.858409223411678	0.13085	0.6768871	0.0018049377738828	0.08901	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.04	0.606	0.16736	-0.489000	0.06570	.	.	0.531000	0.24825	0.000000	0.06391	0.000000	0.08366	0.994000	0.71098	0.0:0.5969:0.1817:0.2214	4.926	0.13244	851	0.35303	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3147.11	44	chr19	44157362	.	C	T	3147.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.31;DP=980;ExcessHet=0.1072;FS=0.973;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=0.189;SOR=0.789	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1620	19	0	2	0
chr19	44274298	44274298	-	CAC	exonic	ZNF233	.	nonframeshift insertion	ZNF233:NM_001207005:exon5:c.1638_1639insCAC:p.S546_Q547insH	.	.	417	1086	18	1	0	20	0.00912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0005	9.612e-05	0.0003	0	0	0.0003	0.0011	0.0017	0.0003558	55	154602	rs747608327	0.0004	0.0004	0.0003	0.0004	0.0045	0.0004	0.0003	0.0032	0.0027	2.987e-05	0.0004	3.826e-05	0	0	0.0045	0.0003	0.0005	0.0021	0.0002	0.0002	0.0001	0.0003	0.0017	0.0002	0.0002	0.0008	0.0006	2.418e-05	0	0.0007	0	0	0	0	0.0002	0.0005	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2263.94	39	chr19	44274298	.	T	TCAC	2263.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.197;DP=1127;ExcessHet=0.0000;FS=9.880;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.61;ReadPosRankSum=1.35;SOR=0.868	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,102,1530	20	0	1	0
chr19	44386686	44386686	C	T	exonic	ZNF285	.	nonsynonymous SNV	ZNF285:NM_001291491:exon3:c.G1094A:p.G365D	.	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.984	D	0.77	P	.	.	1.000	N	0.775	N	2.24	T	-1.058	T	0.034	T	0.368	2.311	13.69	1.14	0.624	0.308	9.143	0.082	0.00692134794205	0.0013	0.00199681	0.0012	0.0031	0.0005	0.0058	0.0002	0.0007	0.0011	0.0002	0.0010737	166	154602	rs138001522	0.0006	0.0006	0.0006	0.0007	0.0119	0.0006	0.0006	0.0110	0.0107	0.0034	0.0005	3.826e-05	0.0119	0.0002	0.0007	0.0002	0.0008	0.0002	0.0014	0.0014	0.0013	0.0014	0.0073	0.0012	0.0012	0.0055	0.0049	0.0037	0	0.0003	0	0.0073	9.42e-05	0	0.0002	0.0014	0	.	.	.	0.134	0.34241	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.24	0.17923	T	.	.	.	0.204	0.26837	-1.0584	0.12159	T	0.034	0.14813	T	9	0.008098215	0.00184	T	0.006921	0.18317	T	0.082	0.23913	.	.	0.282575091529	0.27877	0.02777533647939042	0.02727	.	.	.	.	.	.	.	.	-0.192458	0.21898	T	-0.514229	0.20882	T	0.0232893378860421	0.01058	T	0.0626937	0.00456	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.511	0.68027	A	.;.;.	.;.;.	1.916175	0.24334	16.36	0.98224419557594878	0.39334	0.42142	0.26813	N	AEFBI	0.338274	0.43580	N	-0.123746210242039	0.36359	2.100654	-0.213694937580806	0.31043	1.753245	1.81328275425263E-4	0.05844	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	3.6	1.14	0.19817	0.042000	0.13834	.	.	0.511000	0.23309	0.000000	0.06391	0.000000	0.08366	0.993000	0.69303	0.1617:0.681:0.1573:0.0	9.143	0.36074	912	0.21483	.;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	3384.33	45	chr19	44386686	.	C	T	3384.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-8.650e-01;DP=1293;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=55.69;MQRankSum=-8.124e+00;QD=18.80;ReadPosRankSum=0.582;SOR=0.695	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1197	19	0	1	1
chr19	44387371	44387371	C	T	exonic	ZNF285	.	nonsynonymous SNV	ZNF285:NM_001291491:exon3:c.G409A:p.E137K	.	.	428	1088	5	1	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.001	B	0.001	B	.	.	1.000	N	1.91	M	3.3	T	-0.919	T	0.016	T	0.169	1.942	12.45	-5.86	-0.747	-0.145	2.334	0.031	0.00151343146227	.	0.000199681	8.363e-06	0	0	0	0	0	0	6.056e-05	1.29e-05	2	154602	rs531028922	6.156e-06	6.156e-06	4.084e-06	8.25e-06	5.038e-05	2.9e-06	2.1e-06	8.35e-06	3.12e-06	2.987e-05	2.236e-05	0	5.038e-05	0	0	0	4.967e-05	2.319e-05	1.314e-05	1.313e-05	1.285e-05	1.344e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	6.54e-05	0	0	0	0	0	0	0.0002	.	.	.	0.152	0.33666	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.3	0.06368	T	.	.	.	0.123	0.17140	-0.9186	0.45743	T	0.016	0.06329	T	9	0.07002258	0.10129	T	0.001513	0.02343	T	0.031	0.07369	0.445	0.50302	0.0716867268079	0.06686	0.03171292967658753	0.03120	.	.	.	.	.	.	.	.	-0.32392	0.06581	T	-0.703065	0.05660	T	0.0328854026497822	0.02452	T	0.19978	0.02250	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12228	B	.;.;.	.;.;.	0.500049	0.08693	5.464	0.92571330580662348	0.22026	0.03944	0.09342	N	AEFDGBI	0.056138	0.10355	N	-1.32528951473618	0.03388	0.1512664	-1.48550365619622	0.02462	0.1133123	0.00145570027841714	0.08551	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	3.37	-5.86	0.02114	-0.490000	0.06562	.	.	-1.436000	0.01109	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1203:0.4325:0.1187:0.3285	2.334	0.03984	912	0.21483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05	3023.82	45	chr19	44387371	.	C	T	3023.82	.	AC=2;AF=0.050;AN=40;BaseQRankSum=3.81;DP=1358;ExcessHet=0.1128;FS=0.450;InbreedingCoeff=-0.0526;MLEAC=2;MLEAF=0.050;MQ=55.16;MQRankSum=-5.570e-01;QD=11.45;ReadPosRankSum=1.68;SOR=0.653	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1197	18	0	2	1
chr19	44387835	44387835	G	T	exonic	ZNF285	.	nonsynonymous SNV	ZNF285:NM_001291489:exon4:c.C410A:p.A137E	.	.	433	1085	3	0	1	4	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.845	P	0.2	B	.	.	1.000	N	0.895	L	3.43	T	-1.035	T	0.009	T	0.26	-0.058	3.718	1.54	0.319	-0.971	6.150	0.046	0.00317714518444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.751e-06	0.0003	2.3e-07	9e-08	6.098e-05	2.523e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.43	0.05440	T	.	.	.	0.097	0.10911	-1.0346	0.18983	T	0.009	0.03315	T	9	0.095938325	0.17171	T	0.003177	0.06966	T	0.046	0.12618	0.373	0.38503	0.201204373187	0.19734	0.04933200429997797	0.04876	.	.	.	.	.	.	.	.	-0.29379	0.09258	T	-0.659786	0.08281	T	0.155243050590773	0.17513	T	0.408059	0.10511	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	0.58440	A	.;.;.	.;.;.	0.654700	0.10233	6.969	0.31495460281284665	0.01778	0.02422	0.06842	N	AEFGBI	0.061995	0.11890	N	-0.900850727132684	0.10822	0.5190954	-1.02472352652933	0.09242	0.4587304	5.60826734828523E-5	0.04171	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.528226	0.09195	0	.	.	2.92	1.54	0.22290	-0.681000	0.05292	.	.	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.2252:0.0:0.7748:0.0	6.150	0.19525	912	0.21483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2063.98	45	chr19	44387835	.	G	T	2063.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.349;DP=1140;ExcessHet=0.0000;FS=1.265;InbreedingCoeff=-0.0248;MLEAC=1;MLEAF=0.024;MQ=55.94;MQRankSum=-2.680e-01;QD=12.98;ReadPosRankSum=-4.150e-01;SOR=0.833	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1197	20	0	1	0
chr19	44388036	44388042	ACTTCTT	-	exonic	ZNF285	.	frameshift deletion	ZNF285:NM_001291489:exon4:c.203_209del:p.Q68Rfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.309e-05	0	0	0	0	6.01e-05	0	0	3.84e-05	1	26028	rs747041635	2.394e-05	2.394e-05	1.77e-05	3.025e-05	6.709e-05	1.739e-05	1.539e-05	1.914e-05	1.661e-05	0	6.709e-05	0	0	0	0	2.698e-05	3.312e-05	0	1.314e-05	1.313e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1550.94	45	chr19	44388035	.	CACTTCTT	C	1550.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.428e+00;DP=1034;ExcessHet=0.0000;FS=0.729;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.36;ReadPosRankSum=2.15;SOR=0.788	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1197	20	0	1	0
chr19	44647519	44647519	G	A	exonic	PVR	.	nonsynonymous SNV	PVR:NM_001135768:exon2:c.G376A:p.V126I	.	.	0	1516	4	2	0	8	0.00263158	.	.	3464794	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.35	T	0.492	P	0.206	B	0.031	N	1.000	N	1.08	L	-3.69	D	-0.076	T	0.709	D	0.073	1.566	11.19	3.74	1.003	2.595	8.546	0.320	0.21382331861	7.7e-05	.	0.0003	0	0	0.0001	0.0002	0.0001	0.0023	0.0011	0.000194	30	154602	rs138482699	0.0002	0.0002	0.0002	0.0003	0.0012	0.0002	0.0002	0.0010	0.0009	0	4.472e-05	0	2.519e-05	7.49e-05	0.0012	0.0002	0.0002	0.0012	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	0.0001	0.0008	0.0006	2.407e-05	0	0.0004	0	0	0	0	0.0002	0	0.0017	0.025	0.47745	D	0.048	0.48594	D	0.226	0.32352	B	0.195	0.36592	B	0.030661	0.25275	N	0.277608	1	0.08975	N	1.15	0.29295	L	-3.69	0.95317	D	-0.86	0.24026	N	0.056	0.06454	-0.0765	0.80631	T	0.709	0.90013	D	10	0.059283376	0.07101	T	0.213823	0.87426	D	0.320	0.64215	.	.	0.633565471745	0.63056	0.2864253983264833	0.28555	0.452670513317	0.44982	0.432722002268	0.29580	T	0.035501	0.23742	T	-0.311845	0.07587	T	-0.271161	0.47703	T	0.0430919524684804	0.04254	T	0.874113	0.60417	D	.	.	.	.	.	.	.	.	-3.315	0.13932	T	.	.	0.124	0.26947	B	.;.;.;.	.;.;.;.	2.278688	0.29133	18.02	0.99266563083190673	0.57390	0.67107	0.33313	D	AEFDBI	0.098484	0.19845	N	-0.430932108369518	0.24392	1.316678	-0.420939509308502	0.24383	1.334928	0.999999971802364	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.570548	0.19454	0	0.735409	0.98432	0	.	.	4.78	3.74	0.42108	2.400000	0.44157	.	.	-0.320000	0.05874	0.442000	0.26503	0.263000	0.23997	0.012000	0.09680	0.108:0.0:0.892:0.0	8.546	0.32580	712	0.56465	Immunoglobulin V-set domain|Immunoglobulin subtype;.;.;Immunoglobulin V-set domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1619.98	34	chr19	44647519	.	G	A	1619.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.212e+00;DP=845;ExcessHet=0.0000;FS=3.287;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.76;ReadPosRankSum=0.879;SOR=0.455	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1257	20	0	1	0
chr19	44792407	44792407	A	G	exonic	CBLC	.	nonsynonymous SNV	CBLC:NM_001130852:exon6:c.A892G:p.M298V	.	.	420	1061	37	4	0	45	0.020766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.974	D	0.969	D	0.002	N	1.000	D	2.365	M	-3.48	D	0.613	D	0.794	D	0.645	2.694	14.97	3.81	1.748	6.567	10.871	0.799	.	0.0066	0.0061901	0.0080	0.0013	0.0027	0	0.0032	0.0100	0.0077	0.0144	0.0078977	1221	154602	rs149074838	0.0083	0.0083	0.0080	0.0085	0.0208	0.0081	0.0081	0.0178	0.0167	0.0013	0.0034	0.0042	0	0.0031	0.0208	0.0089	0.0080	0.0130	0.0058	0.0058	0.0060	0.0056	0.0141	0.0055	0.0053	0.0114	0.0104	0.0016	0	0.0033	0.0052	0.0002	0.0029	0.0306	0.0090	0.0095	0.0141	0.012	0.54683	D	0.018	0.59732	D	0.889	0.57829	P	0.775	0.72001	P	0.001904	0.37691	N	0.114561	0.99944	0.51968	D	2.6	0.76081	M	-3.48	0.94584	D	-3.58	0.69118	D	0.462	0.49874	0.613	0.92069	D	0.794	0.93032	D	10	0.0088893175	0.00201	T	.	.	.	0.799	0.93425	.	.	0.929045453442	0.92831	0.3738723347436617	0.37301	0.326134606744	0.34764	0.467776715755	0.34374	T	0.726295	0.92304	D	-0.0719816	0.41010	T	0.134858	0.79210	D	0.0292411764619969	0.01874	T	0.680232	0.28883	T	0.28027663	0.51076	0.36654878	0.61982	0.28027663	0.51076	0.36654878	0.61981	-9.169	0.71653	D	.	.	0.204	0.42920	B	.;.;.	.;.;.	3.497206	0.48908	22.7	0.98907146019890746	0.48308	0.88917	0.49082	D	AEFDBHCIJ	0.855031	0.77211	D	0.605108900228125	0.73495	5.975778	0.539785417597971	0.70691	5.542364	0.999971891779467	0.50053	0.706548	0.73137	0	0.618376	0.53248	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	3.81	3.81	0.43020	5.924000	0.69776	.	.	0.738000	0.86027	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	10.871	0.46088	616	0.66398	.;.;.	.	.	CEACAM19	Esophagus_Mucosa	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1368.98	34	chr19	44792407	.	A	G	1368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.804e+00;DP=819;ExcessHet=0.0000;FS=1.443;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.22;ReadPosRankSum=0.207;SOR=0.650	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1282	20	0	1	0
chr19	44814191	44814191	C	T	exonic	BCAM	.	nonsynonymous SNV	BCAM:NM_001013257:exon7:c.C824T:p.S275F	.	.	415	1101	6	0	0	6	0.00271739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.995	D	0.944	D	.	.	1.000	N	0.55	N	2.65	T	-1.075	T	0.044	T	0.396	1.445	10.77	2.95	2.159	2.249	6.602	0.121	0.0199055840572	0.0018	0.00159744	0.0016	0.0013	0.0003	0	0.0002	0.0017	0.0023	0.0041	0.0016106	249	154602	rs139610351	0.0021	0.0020	0.0020	0.0021	0.0033	0.0020	0.0020	0.0029	0.0028	0.0003	0.0003	0.0031	7.69e-05	0.0004	0.0018	0.0022	0.0016	0.0033	0.0012	0.0012	0.0011	0.0014	0.0048	0.0011	0.0010	0.0033	0.0028	0.0004	0	0.0002	0.0032	0	0.0004	0	0.0019	0.0009	0.0048	0.006	0.61437	D	0.013	0.69154	D	0.995	0.67487	D	0.944	0.68059	D	.	.	.	.	1	0.08975	N	2.79	0.81396	M	2.65	0.68892	T	-2.21	0.49684	N	0.434	0.47301	-1.0751	0.08328	T	0.044	0.18824	T	9	0.0076416135	0.00174	T	0.019906	0.42389	T	0.121	0.33580	.	.	0.498387242485	0.49473	0.3604593471763995	0.35959	0.669328087364	0.59342	0.529243946075	0.42927	T	0.132674	0.46291	T	-0.325482	0.06459	T	-0.242099	0.50594	T	0.0334224699105504	0.02541	T	0.810419	0.46176	T	0.08789899	0.20485	0.14533965	0.34472	0.08694026	0.20226	0.1703657	0.39140	-9.118	0.68453	D	.	.	0.200	0.42302	B	.;.;.	.;.;.	3.820635	0.55160	23.6	0.99645249689230986	0.76943	0.05805	0.11742	N	AEFDBI	0.090954	0.18427	N	-0.147241788161712	0.35351	2.029492	-0.311621938858244	0.27723	1.540347	0.86132319466983	0.25231	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.98	2.95	0.33285	1.706000	0.37497	.	.	0.599000	0.40250	0.003000	0.16062	0.891000	0.27831	0.222000	0.22517	0.0:0.8718:0.0:0.1282	6.602	0.21901	616	0.66398	Immunoglobulin-like domain;Immunoglobulin-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1283.98	34	chr19	44814191	.	C	T	1283.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.281e+00;DP=807;ExcessHet=0.0000;FS=0.729;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=0.671;SOR=0.616	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1208	20	0	1	0
chr19	44878273	44878273	G	A	exonic	NECTIN2	.	nonsynonymous SNV	NECTIN2:NM_002856:exon6:c.G1093A:p.V365M,	.	.	409	1093	20	0	0	20	0.00906618	.	.	2808886	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.861	P	0.173	B	.	.	1.000	D	1.935	M	-0.53	T	-0.600	T	0.234	T	0.119	3.731	18.95	4.63	1.401	3.099	8.778	0.150	.	0.0025	0.00399361	0.0102	0	0.0038	0	0.0238	0.0054	0	0.0428	0.0014618	226	154602	rs201037066	0.0038	0.0036	0.0035	0.0041	0.0116	0.0037	0.0037	0.0109	0.0107	0.0006	0.0006	0.0025	5.91e-05	0.0085	0.0040	0.0033	0.0033	0.0116	0.0028	0.0028	0.0024	0.0032	0.0121	0.0026	0.0025	0.0096	0.0087	0.0007	0	0.0010	0.0020	0.0002	0.0071	0.0034	0.0035	0.0005	0.0121	0.054	0.38633	T	0.084	0.41239	T	0.861	0.47410	P	0.173	0.35463	B	.	.	.	.	1	0.81001	D	.	.	.	-0.53	0.70833	T	-1.27	0.31981	N	0.219	0.24510	-0.6000	0.64817	T	0.234	0.60124	T	9	0.008009136	0.00182	T	.	.	.	0.150	0.39571	.	.	0.737711754149	0.73536	.	.	.	.	.	.	.	.	.	.	-0.446057	0.01191	T	-0.404112	0.32908	T	0.0117879295304798	0.00182	T	0.623938	0.24053	T	.	.	.	.	.	.	.	.	-7.608	0.58367	D	.	.	0.223	0.45384	B	.	.	3.629833	0.51407	23.1	0.99887540941415998	0.96204	0.89664	0.50274	D	AEFDBI	0.388972	0.46837	N	0.301856988620212	0.56242	3.789	0.355470249689991	0.58839	4.056976	0.976040442937437	0.29689	0.706548	0.73137	0	0.588015	0.36545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.66	4.63	0.57175	2.479000	0.44857	.	.	0.657000	0.54293	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1701:0.0:0.8299:0.0	8.778	0.33933	835	0.38313	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2189.11	33	chr19	44878273	.	G	A	2189.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.310;DP=879;ExcessHet=0.1072;FS=1.182;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.58;ReadPosRankSum=0.907;SOR=0.792	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1033	19	0	2	0
chr19	44882231	44882231	G	A	exonic	NECTIN2	.	nonsynonymous SNV	NECTIN2:NM_001042724:exon6:c.G1063A:p.A355T,	.	.	428	1075	17	2	0	21	0.00967296	.	.	705094	not_provided|NECTIN2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.44	T	1.0	D	0.995	D	0.010	N	1.000	D	0.975	L	-0.91	T	-0.442	T	0.360	T	0.471	3.557	18.14	5.65	2.678	5.445	17.230	0.272	.	0.0057	0.00119808	0.0045	0.0008	0.0031	0.0001	0.0008	0.0064	0.0102	0.0030	0.0041073	635	154602	rs187706273	0.0054	0.0053	0.0053	0.0054	0.0063	0.0053	0.0052	0.0062	0.0061	0.0005	0.0020	0.0040	0.0004	0.0009	0.0022	0.0063	0.0037	0.0025	0.0037	0.0037	0.0041	0.0032	0.0067	0.0034	0.0033	0.0062	0.0060	0.0009	0	0.0016	0.0052	0.0004	0.0004	0	0.0067	0.0024	0.0017	0.183	0.21718	T	0.263	0.22828	T	1.0	0.90584	D	0.995	0.83170	D	0.009720	0.30236	N	0.234695	0.999968	0.52935	D	.	.	.	-0.91	0.75001	T	-1.18	0.30140	N	0.491	0.52475	-0.4422	0.70657	T	0.360	0.72163	T	10	0.012210935	0.00263	T	.	.	.	0.272	0.58758	.	.	0.871543190638	0.87029	0.28142651281630243	0.28055	0.731314236594	0.62740	0.550936341286	0.45989	T	0.101899	0.40910	T	-0.308542	0.07878	T	-0.209436	0.53748	T	0.0125267052763995	0.00207	T	0.79802	0.44234	T	0.111136384	0.26264	0.1059137	0.25470	0.111136384	0.26263	0.1059137	0.25470	-4.464	0.30414	T	.	.	0.229	0.46097	B	.	.	3.343349	0.46082	22.2	0.99780207879593275	0.86693	0.89362	0.49781	D	AEFBI	0.598349	0.59178	D	0.563878049893635	0.70932	5.574614	0.602633781147608	0.75131	6.256594	0.981929744730446	0.30328	0.634777	0.41761	0	0.588015	0.36545	0	0.606735	0.37207	0	0.645665	0.59343	0	.	.	5.65	5.65	0.86881	5.518000	0.66782	.	.	0.662000	0.56354	0.996000	0.39380	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	17.230	0.86865	862	0.33134	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1548.11	55	chr19	44882231	.	G	A	1548.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.87;DP=777;ExcessHet=0.1072;FS=6.929;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=0.177;SOR=1.302	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1191	19	0	2	0
chr19	44892888	44892888	G	A	exonic	TOMM40	.	nonsynonymous SNV	TOMM40:NM_001128917:exon3:c.G394A:p.G132R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.965	D	0.000	D	1.000	D	3.125	M	0.84	T	-0.216	T	0.341	T	0.873	4.548	24.6	4.06	1.120	7.312	13.258	0.615	0.142130106639	.	.	8.315e-06	0	0	0	0	1.51e-05	0	0	6.5e-06	1	154602	rs750526666	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.014	0.64786	D	0.999	0.77913	D	0.951	0.71173	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.275	0.90144	M	0.84	0.47477	T	-5.16	0.83422	D	0.846	0.84194	-0.2161	0.77255	T	0.341	0.70648	T	10	0.922724	0.91624	D	0.14213	0.82452	D	0.615	0.84986	0.792	0.91365	0.583166538999	0.57988	.	.	0.208935064865	0.23359	0.765007138252	0.76677	T	0.338988	0.70818	T	0.121078	0.66480	D	0.105272	0.77258	D	0.980931347966373	0.73629	D	0.90231	0.67171	D	0.93511105	0.94751	0.8334214	0.90408	0.93511105	0.94751	0.8334214	0.90409	-14.593	0.94824	D	.	.	0.991	0.95886	P	.;.;.;.;.	.;.;.;.;.	5.820117	0.93695	33	0.99921330901934668	0.98787	0.95035	0.63201	D	AEFBHC	0.928417	0.91259	D	0.740202579240378	0.82265	7.720245	0.654042618046364	0.78912	6.972725	0.999999993550998	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.12	4.06	0.46572	6.157000	0.71647	.	.	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.1612:0.8388:0.0	13.258	0.59519	889	0.27310	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1407.98	96	chr19	44892888	.	G	A	1407.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.12;DP=1065;ExcessHet=0.0000;FS=2.506;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=-3.390e-01;SOR=0.446	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1392	20	0	1	0
chr19	44916256	44916257	AC	-	exonic	APOC1	.	frameshift deletion	APOC1:NM_001321065:exon3:c.125_126del:p.L44Gfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.124e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs756665290	2.394e-05	2.394e-05	6.806e-06	4.125e-05	0.0004	1.738e-05	1.539e-05	0.0003	0.0002	0	0	0	0	0	0	0	6.623e-05	0.0004	6.579e-06	6.568e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3238.94	37	chr19	44916255	.	AAC	A	3238.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.71;DP=961;ExcessHet=0.0000;FS=5.327;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.30;ReadPosRankSum=-4.900e-01;SOR=0.910	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,100,1328	20	0	1	0
chr19	45064488	45064493	TCCCGC	-	exonic	CLASRP	.	nonframeshift deletion	CLASRP:NM_001278439:exon12:c.1081_1086del:p.S367_R368del	.	.	298	1216	5	1	2	9	0.00287003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	.	0.0007	0	0	0	0	0.0002	0	0.0010	3.84e-05	1	26028	rs762497121	0.0005	0.0005	0.0005	0.0005	0.0006	0.0005	0.0004	0.0005	0.0005	0.0002	0.0004	0	0.0002	0.0001	0	0.0005	0.0006	0.0006	0.0004	0.0004	0.0004	0.0003	0.0008	0.0003	0.0003	0.0004	0.0003	0.0002	0	0.0004	0	0	0	0	0.0005	0.0010	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	759.94	34	chr19	45064487	.	GTCCCGC	G	759.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.570e-01;DP=755;ExcessHet=0.0000;FS=2.587;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.09;ReadPosRankSum=0.444;SOR=1.127	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1188	20	0	1	0
chr19	45067377	45067377	C	G	exonic	CLASRP	.	nonsynonymous SNV	CLASRP:NM_001278439:exon13:c.C1264G:p.R422G	.	.	408	1108	6	0	0	6	0.00270027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.699	P	0.115	B	0.011	U	0.997	D	0.55	N	1.4	T	-1.034	T	0.070	T	0.515	2.247	13.47	4.26	2.200	0.424	12.031	0.087	.	.	.	0.0012	0	0.025	0	.	0	0	0.0014	0.0001035	16	154602	rs750603149	0.0001	0.0001	5.441e-05	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	0	0	0	0	0	0.0017	5.58e-06	0.0002	0.0018	5.912e-05	5.906e-05	3.857e-05	8.06e-05	0.0017	3.076e-05	2.209e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0.0005	0.0017	0.0	0.91255	D	0.024	0.67890	D	0.535	0.37805	P	0.065	0.27321	B	0.010615	0.29855	U	0.000000	0.993879	0.43273	D	.	.	.	1.34	0.51474	T	-0.69	0.20358	N	0.501	0.54845	-1.0336	0.19300	T	0.070	0.28577	T	10	0.005859554	0.00131	T	.	.	.	0.087	0.25287	0.39	0.41279	0.0934897674506	0.08844	0.39008001604490766	0.38923	0.936903531846	0.72053	0.686215758324	0.65160	T	0.007529	0.06930	T	-0.353803	0.04493	T	-0.29422	0.45332	T	0.169071553520808	0.18517	T	0.808619	0.45852	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.24733	B	.;.;.	.;.;.	4.140320	0.62030	24.4	0.98252199007354524	0.39585	0.58685	0.30708	D	AEFDBCI	0.251558	0.37140	N	-0.102027689505958	0.37304	2.168422	0.0180791251639932	0.40554	2.422148	0.573323092548285	0.21510	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.491896	0.07777	0	.	.	4.26	4.26	0.49832	1.213000	0.32011	3.992000	0.40997	0.596000	0.33519	0.963000	0.33788	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	12.031	0.52691	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	278.98	20	chr19	45067377	.	C	G	278.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.116e+00;DP=433;ExcessHet=0.0000;FS=1.906;InbreedingCoeff=-0.0248;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=1.61;SOR=1.473	GT:AD:DP:GQ:PL	0/0:20,0:20:57:0,57,855	20	0	1	0
chr19	45067488	45067499	AGCCGCAGCCGC	-	exonic	CLASRP	.	nonframeshift deletion	CLASRP:NM_001278439:exon13:c.1375_1386del:p.R464_S467del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0087	0.000998403	0.0004	0.0026	0	0	0	0.0005	0	0.0001	0.0001921	5	26028	rs566205384	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0	0.0002	4.898e-05	0.0005	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	0.0001	0.0002	0.0001	0.0002	0	6.571e-05	0	0.0004	9.488e-05	0	0.0003	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1095.94	35	chr19	45067487	.	GAGCCGCAGCCGC	G	1095.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.786;DP=777;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.01;ReadPosRankSum=-7.200e-02;SOR=0.725	GT:AD:DP:GQ:PL	0/1:42,31:73:99:1110,0,1638	20	0	1	0
chr19	45144962	45144962	C	T	exonic	PPP1R37	.	nonsynonymous SNV	PPP1R37:NM_019121:exon9:c.C1096T:p.L366F,	.	.	406	1102	14	0	0	14	0.00631199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.014	N	1.000	D	2.645	M	-1.5	D	0.031	D	0.435	T	0.878	4.049	20.8	3.63	1.193	2.940	10.267	0.828	.	.	0.00299521	0.0055	0.0018	0.0110	0	0	0.0048	0.0076	0.0061	0.0020828	322	154602	rs146723120	0.0098	0.0093	0.0099	0.0098	0.0113	0.0097	0.0096	0.0111	0.0110	0.0016	0.0026	0.0008	2.801e-05	0.0110	0.0033	0.0113	0.0078	0.0054	0.0077	0.0077	0.0077	0.0076	0.0117	0.0073	0.0072	0.0111	0.0108	0.0022	0.0493	0.0022	0.0006	0.0004	0.0141	0	0.0117	0.0038	0.0072	0.004	0.65419	D	0.086	0.40909	T	.	.	.	.	.	.	0.013611	0.28787	N	0.318910	0.999719	0.48481	D	2.85	0.82803	M	-1.5	0.81318	D	-3.37	0.66665	D	0.868	0.86511	0.031	0.82872	D	0.435	0.77510	T	8	0.013455033	0.00285	T	.	.	.	0.828	0.94541	.	.	0.598116539115	0.59492	0.7204627216306844	0.71989	.	.	0.755184829235	0.75213	T	0.252006	0.62233	T	0.0177854	0.54082	T	0.263159	0.86239	D	0.0185308713044781	0.00569	T	0.905609	0.66735	D	0.30629918	0.53463	0.31038934	0.57050	0.30629918	0.53463	0.31038934	0.57049	-7.431	0.57123	T	.	.	0.875	0.81176	P	.	.	4.347695	0.66745	25.0	0.99879613756968999	0.95572	0.84915	0.44010	D	AEFDBI	0.479137	0.52141	N	0.273710996863994	0.54821	3.64675	0.257900779730125	0.53099	3.480709	0.999716271027713	0.42101	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.66	3.63	0.40741	3.234000	0.51019	3.942000	0.40610	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.972000	0.54974	0.0:0.9035:0.0:0.0965	10.267	0.42637	929	0.16858	.	.	.	.	.	rs146723120	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1816.11	36	chr19	45144962	.	C	T	1816.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.541;DP=795;ExcessHet=0.1072;FS=0.624;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.16;ReadPosRankSum=0.542;SOR=0.632	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	19	0	2	0
chr19	45152354	45152354	G	A	exonic	NKPD1	.	nonsynonymous SNV	NKPD1:NM_198478:exon4:c.C2083T:p.R695C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.0	B	0.0	B	0.748	N	1.000	D	-0.755	N	0.93	T	-1.099	T	0.039	T	0.056	1.743	11.79	-2.7	-0.487	0.298	5.174	0.048	0.0190504095084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.891e-07	2.736e-06	1.369e-06	0	9.035e-07	0	0	.	.	0	0	0	0	0	0	9.035e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.45110	T	0.0	0.02946	B	0.0	0.01387	B	0.747758	0.06466	N	1.344050	1	0.81001	D	-1.39	0.00611	N	0.93	0.44065	T	.	.	.	0.051	0.02272	-1.0985	0.04277	T	0.039	0.16806	T	10	0.0427725	0.03059	T	0.01905	0.41305	T	0.048	0.13305	0.439	0.49321	0.203808441222	0.19973	0.21878837040546303	0.21794	0.984425732197	0.73851	0.583187580109	0.50535	T	0.046031	0.27302	T	-0.331013	0.06036	T	-0.713253	0.05129	T	0.0780218581046889	0.09732	T	0.683732	0.29211	T	0.08023081	0.18372	0.11310496	0.27295	0.08023081	0.18372	0.11310496	0.27295	-1.835	0.02616	T	.	.	0.074	0.04975	B	.;.	.;.	2.087749	0.26558	17.16	0.95295843009928771	0.26609	0.10001	0.15625	N	AEFDBCI	0.059003	0.11111	N	-1.08041596259682	0.07005	0.3241175	-0.972590894053084	0.10403	0.5237598	0.999338515213898	0.39185	0.455138	0.09556	0	0.552344	0.17405	0	0.606814	0.37721	0	0.56751	0.32155	0	.	.	4.79	-2.7	0.05651	0.073000	0.14504	1.393000	0.26132	-0.212000	0.08331	0.001000	0.13787	0.659000	0.26006	0.981000	0.58702	0.2636:0.0:0.4578:0.2786	5.174	0.14451	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1480.98	115	chr19	45152354	.	G	A	1480.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.24;DP=857;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=-5.440e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1497	20	0	1	0
chr19	45179399	45179399	G	T	exonic	BLOC1S3	.	stopgain	BLOC1S3:NM_212550:exon2:c.G103T:p.E35X,	Hermansky-Pudlak syndrome 8	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	.	.	.	.	0.426	N	1.000	D	.	.	.	.	.	.	.	.	.	5.369	34	0.201	0.317	0.362	7.731	.	.	.	.	0.0001	0	0	0	0	0.0002	0	0	4.53e-05	7	154602	rs752914054	9.163e-06	1.368e-05	7.001e-06	1.136e-05	0.0016	5.11e-06	3.94e-06	0.0008	0.0006	0	0	0	0	0	0.0016	9.104e-07	3.393e-05	1.211e-05	1.314e-05	1.313e-05	2.569e-05	0	.	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	0.426136	0.12808	N	0.624228	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.13	0.24260	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426001	0.91330	D	0.54	0.95419	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	7.022575	0.96045	35	0.99611955800639806	0.74873	0.26162	0.22913	N	AEFDBHCI	0.114354	0.22527	N	0.42443044880098	0.62770	4.498356	0.135434025130824	0.46374	2.884483	0.999999997694724	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.372554	0.06265	0	.	.	2.93	0.201	0.14463	0.298000	0.18874	1.854000	0.29277	0.504000	0.22967	0.166000	0.23880	0.994000	0.32194	0.847000	0.40026	0.0:0.0:0.5701:0.4299	7.731	0.27955	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1065.98	34	chr19	45179399	.	G	T	1065.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.96;DP=776;ExcessHet=0.0000;FS=0.907;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.81;ReadPosRankSum=-9.530e-01;SOR=0.547	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,29:72:99:0|1:45179399_G_T:1080,0,1698:45179399	20	0	1	0
chr19	45179400	45179400	A	C	exonic	BLOC1S3	.	nonsynonymous SNV	BLOC1S3:NM_212550:exon2:c.A104C:p.E35A,	Hermansky-Pudlak syndrome 8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.201	B	0.031	B	0.426	N	1.000	N	0	N	.	.	-1.049	T	0.040	T	0.164	2.382	13.92	1.77	1.121	0.657	6.247	0.094	0.00503079722872	.	.	9.825e-05	0	0	0	0	0.0002	0	0	3.88e-05	6	154602	rs760982368	8.465e-06	8.209e-06	5.604e-06	1.137e-05	0.0016	4.51e-06	3.57e-06	0.0008	0.0006	0	0	0	0	0	0.0016	9.11e-07	3.396e-05	0	1.317e-05	1.314e-05	2.573e-05	0	.	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	0	0.0005	0	0.023	0.48186	D	0.087	0.40747	T	0.201	0.29693	B	0.031	0.21939	B	0.426136	0.12808	N	0.624228	0.975019	0.25458	N	0	0.06538	N	.	.	.	-1.85	0.43334	N	0.172	0.36989	-1.0489	0.14705	T	0.040	0.17234	T	9	0.07989609	0.12906	T	0.005031	0.12722	T	0.094	0.27141	0.14	0.04369	0.388010793773	0.38412	0.245427045700252	0.24456	1.45917888074	0.86306	0.866385698318	0.92047	D	0.282506	0.65525	T	-0.273256	0.11397	T	-0.464433	0.26118	T	0.0628208706937676	0.07606	T	0.534247	0.17838	T	0.13317144	0.30983	0.105959035	0.25481	0.17010681	0.37566	0.11436826	0.27607	-4.97	0.36512	T	.	.	0.087	0.11558	B	.;.	.;.	2.437718	0.31368	18.72	0.97219177180825433	0.32896	0.35874	0.25403	N	AEFDBHCI	0.068852	0.13600	N	-0.487682169063308	0.22483	1.200872	-0.386508431332523	0.25398	1.396513	0.999999998439616	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.372554	0.06265	0	.	.	2.93	1.77	0.23848	0.786000	0.26505	2.422000	0.32692	0.561000	0.28422	0.302000	0.25342	0.998000	0.33993	0.887000	0.42601	0.7472:0.2528:0.0:0.0	6.247	0.20035	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1065.98	34	chr19	45179400	.	A	C	1065.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.836;DP=775;ExcessHet=0.0000;FS=0.907;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.81;ReadPosRankSum=-1.123e+00;SOR=0.547	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,29:72:99:0|1:45179399_G_T:1080,0,1698:45179399	20	0	1	0
chr19	45213213	45213213	G	T	exonic	EXOC3L2	.	nonsynonymous SNV	EXOC3L2:NM_001382422:exon12:c.C2265A:p.D755E,	.	.	408	1113	1	0	0	1	0.000449035	.	.	2109278	not_provided|EXOC3L2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.905	P	0.416	B	0.000	D	1.000	N	1.1	L	2.93	T	-1.059	T	0.016	T	0.13	2.322	13.72	4.53	2.073	0.571	12.770	0.094	0.0241328420846	0.0012	0.00159744	0.0010	0.0001	0.0028	0	0	0.0011	0	0.0007	0.0009896	153	154602	rs111862689	0.0012	0.0012	0.0012	0.0011	0.0025	0.0011	0.0011	0.0022	0.0020	0.0002	0.0025	0	0	0.0002	0.0009	0.0013	0.0009	0.0007	0.0010	0.0010	0.0009	0.0011	0.0023	0.0009	0.0008	0.0017	0.0015	0.0003	0	0.0023	0	0.0002	9.418e-05	0	0.0014	0.0019	0.0014	0.602	0.05601	T	0.267	0.22561	T	0.905	0.49920	P	0.416	0.44962	B	0.000034	0.55875	D	0.118478	0.978518	0.25243	N	1.265	0.31966	L	2.93	0.09822	T	-0.7	0.19933	N	0.139	0.13769	-1.0591	0.11981	T	0.016	0.06329	T	10	0.010788709	0.00239	T	0.024133	0.47114	T	0.094	0.27141	0.395	0.42099	0.043077524339	0.03247	0.456957943233207	0.45613	0.289761338798	0.31384	0.835615336895	0.87424	D	0.006824	0.06247	T	-0.597484	0.00151	T	-0.636258	0.09944	T	0.0200335428245645	0.00704	T	0.584142	0.21248	T	0.2318413	0.45962	0.15980655	0.37252	0.2467644	0.47648	0.17914832	0.40630	-3.809	0.20939	T	.	.	0.183	0.39697	B	.;.	.;.	1.933580	0.24560	16.44	0.99562167959620973	0.71831	0.77030	0.37830	D	AEFDBI	0.324328	0.42625	N	-0.0235066998645635	0.40793	2.428679	0.0477010470740172	0.41962	2.529826	0.010728221917156	0.12071	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.53	4.53	0.55009	1.088000	0.30489	4.998000	0.46575	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	12.770	0.56793	900	0.24599	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	765.98	33	chr19	45213213	.	G	T	765.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.150;DP=785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.57;ReadPosRankSum=-2.590e-01;SOR=0.630	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1158	20	0	1	0
chr19	45287554	45287554	G	A	exonic	MARK4	.	nonsynonymous SNV	MARK4:NM_001199867:exon13:c.G1384A:p.A462T	.	.	406	1108	8	0	0	8	0.00359712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.876	P	0.063	B	0.088	N	1.000	N	1.04	L	1.15	T	-1.009	T	0.095	T	0.038	0.277	5.500	1.81	0.333	2.834	8.414	0.026	0.0215826893028	.	0.000199681	0.0006	0	0	0	0	0.0002	0.0030	0.0032	0.0002587	40	154602	rs549577494	0.0001	0.0001	8.27e-05	0.0002	0.0014	0.0001	0.0001	0.0012	0.0012	0	4.761e-05	0	0	1.939e-05	0.0005	4.186e-05	0.0002	0.0014	8.533e-05	8.529e-05	6.422e-05	0.0001	0.0017	4.952e-05	3.959e-05	0.0008	0.0006	0	0	0	0	0	0	0	7.349e-05	0	0.0017	0.665	0.04629	T	0.453	0.23638	T	0.0	0.48154	B	0.0	0.27082	B	0.087644	0.20522	N	0.505671	1	0.08975	N	0.895	0.22405	L	1.15	0.38236	T	-0.51	0.19297	N	0.088	0.06587	-1.0088	0.27292	T	0.095	0.35791	T	10	0.011233509	0.00246	T	0.021583	0.44367	T	0.051	0.14325	0.236	0.16608	0.516355890919	0.51278	0.1232806278203595	0.12254	0.637893461377	0.57527	0.426764369011	0.28766	T	0.054481	0.29737	T	-0.606331	0.00133	T	-0.668356	0.07714	T	0.0246440622415081	0.01226	T	0.744226	0.38939	T	0.019811643	0.00520	0.03661308	0.03143	0.019811643	0.00520	0.03661308	0.03142	-3.563	0.17324	T	.	.	0.064	0.02038	B	.;.	.;.	1.853502	0.23545	16.06	0.96802004682119969	0.31154	0.38019	0.25893	N	AEFDBI	0.076308	0.15347	N	-0.354164380935558	0.27118	1.485372	-0.443780046493766	0.23726	1.295369	8.05715065675489E-4	0.07842	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.06	1.81	0.24139	2.973000	0.48956	7.420000	0.58709	0.614000	0.49286	0.693000	0.28559	0.999000	0.35428	0.087000	0.17632	0.2569:0.0:0.7431:0.0	8.414	0.31821	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1113.98	37	chr19	45287554	.	G	A	1113.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.51;DP=785;ExcessHet=0.0000;FS=0.815;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=-1.239e+00;SOR=0.540	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1132	20	0	1	0
chr19	45345558	45345558	C	T	exonic	KLC3	.	nonsynonymous SNV	KLC3:NM_177417:exon2:c.C17T:p.A6V,	.	.	416	1101	5	0	0	5	0.00226552	.	.	2346619	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.003	B	0.001	B	.	.	1.000	N	0	N	-1.72	D	-0.884	T	0.237	T	0.098	-0.209	2.985	-0.692	-0.041	-0.069	2.728	0.136	0.0894714892692	.	.	0.0004	0	0	0	0	0.0007	0	0.0003	7.12e-05	11	154602	rs780895997	0.0001	0.0001	9.375e-05	0.0001	0.0026	8.735e-05	8.194e-05	0.0016	0.0013	0	5.429e-05	0	0	0	0.0026	6.804e-05	0.0001	0.0005	9.849e-05	0.0001	0.0001	6.714e-05	0.0004	6.002e-05	4.876e-05	7.287e-05	5.088e-05	2.405e-05	0	6.539e-05	0	0	0	0	0.0001	0.0009	0.0004	0.127	0.27080	T	0.18	0.34359	T	0.002	0.11197	B	0.0	0.04355	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	-1.93	0.84842	D	0.16	0.06868	N	0.185	0.21319	-0.8841	0.49431	T	0.237	0.60403	T	9	0.03731674	0.02079	T	0.089471	0.75333	D	0.136	0.36778	.	.	0.241078983079	0.23725	0.3388939209778933	0.33802	0.0125541656813	0.01197	0.739633083344	0.72919	T	0.051318	0.28845	T	-0.369914	0.03598	T	-0.467411	0.25795	T	0.0151356442020975	0.00329	T	0.665433	0.27914	T	0.031870145	0.03105	0.058050606	0.10660	0.031870145	0.03104	0.058050606	0.10660	-4.658	0.33027	T	.	.	0.094	0.33527	B	.;.;.;.;.;.	.;.;.;.;.;.	1.624532	0.20745	14.89	0.95814134769385262	0.27891	0.01122	0.04091	N	AEFDBI	0.044438	0.07148	N	-1.37107857294421	0.02913	0.1293224	-1.41183337052538	0.03133	0.1455501	0.963534797291132	0.28697	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	2.77	-0.692	0.10733	0.032000	0.13620	-0.499000	0.08813	-0.250000	0.07158	0.028000	0.20300	0.000000	0.08366	0.063000	0.16184	0.2071:0.4081:0.0:0.3848	2.728	0.04897	917	0.20147	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	357.98	33	chr19	45345558	.	C	T	357.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.381;DP=767;ExcessHet=0.0000;FS=5.493;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.11;ReadPosRankSum=1.19;SOR=1.202	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1181	20	0	1	0
chr19	45348069	45348069	T	C	exonic	KLC3	.	nonsynonymous SNV	KLC3:NM_177417:exon5:c.T688C:p.C230R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	1.925	M	-0.96	T	-0.006	T	0.495	T	0.845	3.705	18.82	3.24	1.731	7.648	10.170	0.833	0.500434329193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.379e-06	1.368e-06	0	2.775e-06	1.807e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.807e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.063	0.63918	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.535	0.73915	M	0.89	0.75553	T	-11.31	0.99402	D	0.932	0.95256	-0.0056	0.82140	T	0.495	0.80859	T	10	0.96734333	0.96245	D	0.500434	0.95143	D	0.833	0.94728	0.82	0.93328	0.920481439374	0.91968	0.8512148379701462	0.85083	0.0926991954694	0.10471	0.903871297836	0.96858	D	0.39317	0.75264	T	0.327322	0.84983	D	0.232399	0.84786	D	0.999892830848694	0.99577	D	0.965403	0.87236	D	0.9650428	0.97782	0.91777664	0.96241	0.9650428	0.97782	0.91777664	0.96242	-15.16	0.96446	D	.	.	0.998	0.98383	P	.;.;.;.;.	.;.;.;.;.	5.445468	0.90990	32	0.99684687878614753	0.79507	0.97421	0.74643	D	AEFDBCI	0.914246	0.87734	D	0.564639079772083	0.70979	5.581564	0.478722924969473	0.66581	4.970915	0.9999931148914	0.74766	0.660377	0.49826	0	0.514364	0.08380	0	0.696353	0.63694	0	0.645665	0.59343	0	.	.	3.24	3.24	0.36257	7.891000	0.85843	7.751000	0.68142	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	10.170	0.42078	917	0.20147	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;.;Tetratricopeptide repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	730.98	34	chr19	45348069	.	T	C	730.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=-1.353e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1091	20	0	1	0
chr19	45349531	45349531	-	G	exonic	KLC3	.	frameshift insertion	KLC3:NM_177417:exon8:c.1073dupG:p.A359Gfs*6,	.	.	429	1088	3	0	2	5	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0003	0	0	0	0	0.0006	0	0	0.0002523	39	154602	rs763155527	0.0003	0.0003	0.0002	0.0003	0.0007	0.0002	0.0002	0.0002	0.0001	0	8.97e-05	0.0055	2.522e-05	1.874e-05	0.0007	0.0002	0.0005	1.161e-05	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0001	0.0001	7.895e-05	2.414e-05	0	0	0.0061	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1092.94	33	chr19	45349531	.	C	CG	1092.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.610e-01;DP=797;ExcessHet=0.0000;FS=2.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=-1.147e+00;SOR=0.994	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1620	20	0	1	0
chr19	45350719	45350719	C	T	exonic	KLC3	.	stopgain	KLC3:NM_177417:exon11:c.C1351T:p.R451X,	.	.	412	1108	2	0	0	2	0.000901713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.007	N	1.000	D	.	.	.	.	.	.	.	.	.	4.273	22.3	2.9	2.063	0.847	8.896	.	.	.	0.000199681	0.0001	0.0002	0	0.0001	0.0002	5.31e-05	0	0.0005	0.0001229	19	154602	rs551647275	6.434e-05	6.43e-05	4.631e-05	8.256e-05	0.0009	5.365e-05	4.979e-05	0.0004	0.0004	5.977e-05	0.0001	0	0.0001	0.0001	0.0009	1.979e-05	3.314e-05	0.0005	7.889e-05	7.876e-05	6.429e-05	9.416e-05	0.0004	4.499e-05	3.514e-05	7.324e-05	3.041e-05	4.82e-05	0	0.0002	0	0.0002	0.0002	0	2.942e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.007301	0.31472	N	0.198315	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.124	0.11626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293177	0.82414	D	0.544146	0.95508	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive	.;.;High	8.844441	0.98102	38	0.99650607642754363	0.77254	0.86904	0.46290	D	AEFDBI	0.275050	0.39010	N	0.487711813725291	0.66371	4.941511	0.275884944049527	0.54135	3.579443	0.100883569130988	0.16364	0.732398	0.92422	0	0.694456	0.67091	0	0.606735	0.37207	0	0.727631	0.95156	0	.	.	4.01	2.9	0.32809	0.673000	0.24883	0.881000	0.22395	0.599000	0.40250	0.964000	0.33853	0.454000	0.24968	0.344000	0.25523	0.221:0.779:0.0:0.0	8.896	0.34627	917	0.20147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	738.98	44	chr19	45350719	.	C	T	738.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=873;ExcessHet=0.0000;FS=2.316;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=-8.990e-01;SOR=0.818	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1779	20	0	1	0
chr19	45357682	45357682	C	T	exonic	ERCC2	.	nonsynonymous SNV	ERCC2:NM_000400:exon13:c.G1255A:p.E419K,	Cerebrooculofacioskeletal syndrome 2;Trichothiodystrophy 1, photosensitive, Autosomal recessive;Xeroderma pigmentosum, group D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1908146	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.999	D	0.961	D	0.000	D	1.000	D	3.58	H	-1.54	D	0.808	D	0.789	D	0.929	5.417	35	5.51	2.586	5.141	16.897	0.885	0.375013852292	.	0.000599042	9.132e-05	0	0.0002	0	0	1.509e-05	0	0.0005	9.06e-05	14	154602	rs574002154	4.515e-05	4.515e-05	4.084e-05	4.951e-05	0.0004	3.641e-05	3.322e-05	0.0003	0.0002	5.974e-05	0	0	0	0	0	2.518e-05	4.967e-05	0.0004	5.916e-05	5.907e-05	1.286e-05	0.0001	0.0012	3.079e-05	2.211e-05	0.0005	0.0004	2.41e-05	0	6.551e-05	0	0	0	0	1.471e-05	0	0.0012	0.001	0.78490	D	0.002	0.79402	D	0.977	0.63424	D	0.537	0.57754	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.64	0.94097	H	-1.54	0.83660	D	-3.8	0.71762	D	0.852	0.84817	0.808	0.94515	D	0.789	0.92854	D	10	0.58148104	0.65874	D	0.375014	0.92837	D	0.885	0.96651	.	.	0.987582681383	0.98744	0.9496792905096944	0.94950	0.807762257892	0.66579	0.827055037022	0.86112	D	0.548535	0.84670	D	0.185073	0.72508	D	0.377499	0.91344	D	0.986756086349487	0.77395	D	0.998567	0.99239	D	0.9762513	0.98811	0.93643814	0.97532	0.9762513	0.98811	0.93643814	0.97532	-15.036	0.95936	D	0.8804249410069552	0.93835	0.990	0.93477	P	.;.;.	.;.;.	5.393563	0.90346	31	0.99911947916712907	0.98095	0.88730	0.48798	D	AEFDBCI	0.661116	0.63145	D	0.841026407832953	0.88590	9.63624	0.787260662543221	0.88895	9.756839	0.999999730541987	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	5.336000	0.65707	7.565000	0.60571	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	16.897	0.85972	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	770.98	34	chr19	45357682	.	C	T	770.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.47;DP=799;ExcessHet=0.0000;FS=3.172;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.18;ReadPosRankSum=-1.023e+00;SOR=1.096	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1228	20	0	1	0
chr19	45364541	45364541	G	A	exonic	ERCC2	.	nonsynonymous SNV	ERCC2:NM_001130867:exon7:c.C529T:p.H177Y	Cerebrooculofacioskeletal syndrome 2;Trichothiodystrophy 1, photosensitive, Autosomal recessive;Xeroderma pigmentosum, group D, Autosomal recessive	.	1	1511	10	0	0	10	0.00329815	.	.	537335	Xeroderma_pigmentosum|ERCC2-related_disorder|Xeroderma_pigmentosum,_group_D|not_provided	MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910|MedGen:CN239291|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.64	T	0.005	B	0.049	B	0.000	D	1.000	D	1.015	L	0.94	T	-0.844	T	0.219	T	0.578	0.254	5.371	4.62	2.544	8.839	15.334	0.225	0.0401438075216	0.0002	0.000599042	0.0006	0	0	0	0	0.0004	0	0.0032	0.0005433	84	154602	rs1799792	0.0003	0.0003	0.0002	0.0004	0.0040	0.0003	0.0003	0.0030	0.0029	0	2.236e-05	0	0	0	0.0040	0.0001	0.0005	0.0034	0.0003	0.0003	0.0003	0.0003	0.0027	0.0002	0.0002	0.0016	0.0013	2.407e-05	0	0.0004	0	0	0	0.0034	0.0003	0.0014	0.0027	1.0	0.06869	T	1.0	0.26714	T	0.001	0.07471	B	0.008	0.16012	B	0.000000	0.84330	D	0.050291	1	0.81001	D	1.285	0.32305	L	-0.54	0.70950	T	-1.12	0.36980	N	0.605	0.62611	-0.8444	0.52352	T	0.219	0.58124	T	10	0.01468423	0.00309	T	0.040144	0.59213	D	0.225	0.52323	.	.	0.775247337891	0.77318	0.6486783814286253	0.64803	0.245544508446	0.27076	0.840005278587	0.88095	D	0.192389	0.54753	T	-0.259772	0.12925	T	-0.149285	0.59307	T	0.151370365967885	0.17212	T	0.973803	0.96541	D	0.2257135	0.45238	0.2307182	0.48183	0.38624778	0.59765	0.2887532	0.54892	-6.795	0.52522	T	0.16516382062720875	0.20456	0.092	0.38569	B	.;.;.;.;.	.;.;.;.;.	3.912177	0.57055	23.8	0.44557588519036645	0.03434	0.99419	0.95789	D	AEFDBI	0.939289	0.93968	D	-0.0654711444514696	0.38913	2.286578	0.114652029528427	0.45296	2.79539	0.999999998918634	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	4.62	4.62	0.56946	8.872000	0.91982	11.704000	0.94545	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.0:1.0:0.0	15.334	0.73949	889	0.27310	DEAD2|Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 type;DEAD2|Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 type;DEAD2|Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 type;.;DEAD2|Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	594.98	44	chr19	45364541	.	G	A	594.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.600e-01;DP=766;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.50;ReadPosRankSum=0.226;SOR=0.735	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1100	20	0	1	0
chr19	45382684	45382684	T	C	exonic	PPP1R13L	.	nonsynonymous SNV	PPP1R13L:NM_001142502:exon12:c.A2291G:p.Y764C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.998	D	0.000	D	1.000	D	2.91	M	2.28	T	-0.872	T	0.135	T	0.768	2.819	15.39	4.61	1.708	5.649	11.970	0.350	0.0689361778245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.019	0.59159	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.515	0.38264	L	2.28	0.17271	T	-7.59	0.95305	D	0.71	0.71321	-0.8722	0.50364	T	0.135	0.44875	T	10	0.80727684	0.80052	D	0.068936	0.70589	D	0.350	0.67142	0.503	0.59615	0.776606504809	0.77455	0.9295045597685343	0.92928	1.40683877804	0.85340	0.846387863159	0.89069	D	0.590991	0.86750	D	0.0350024	0.56388	T	-0.187498	0.55824	T	0.995670318603516	0.87860	D	0.965903	0.87416	D	0.7791217	0.82600	0.34239444	0.59966	0.7791217	0.82602	0.34239444	0.59965	-9.101	0.68343	D	.	.	0.636	0.70369	P	.;.	.;.	4.257522	0.64674	24.7	0.99383757703993891	0.62024	0.93944	0.59646	D	AEFDGBI	0.829285	0.74822	D	0.686138829603942	0.78724	6.929626	0.603662364291024	0.75206	6.269628	0.999742987359126	0.42466	0.706548	0.73137	0	0.693144	0.66847	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.61	4.61	0.56724	4.866000	0.62702	4.114000	0.41935	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:0.0:1.0	11.970	0.52347	845	0.36510	SH3 domain|SH3 domain|SH3 domain;SH3 domain|SH3 domain|SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2083.98	34	chr19	45382684	.	T	C	2083.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.664;DP=902;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.91;ReadPosRankSum=-1.355e+00;SOR=0.674	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1285	20	0	1	0
chr19	45396182	45396182	C	G	exonic	PPP1R13L	.	nonsynonymous SNV	PPP1R13L:NM_001142502:exon6:c.G889C:p.G297R	.	.	414	1099	9	0	0	9	0.00407793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	1.0	D	0.999	D	0.094	N	0.869	N	0.205	N	0.42	T	-0.931	T	0.170	T	0.618	2.631	14.76	4.92	2.276	2.216	13.588	0.242	0.127887727024	.	0.000199681	0.0006	0	0.0006	0	0	7.085e-05	0.0018	0.0029	0.0003105	48	154602	rs529746041	0.0002	0.0002	0.0001	0.0003	0.0031	0.0002	0.0002	0.0028	0.0027	5.987e-05	0	0	0	0	0.0003	4.591e-05	0.0002	0.0031	7.88e-05	7.873e-05	5.14e-05	0.0001	0.0019	4.494e-05	3.51e-05	0.0010	0.0007	0	0	0	0	0	0	0	2.94e-05	0.0005	0.0019	0.033	0.44358	D	0.546	0.09555	T	1.0	0.90584	D	0.998	0.88582	D	0.094048	0.20192	N	0.505078	0.869327	0.28232	N	1.01	0.25309	L	0.42	0.56937	T	-0.9	0.24244	N	0.472	0.50868	-0.9308	0.44021	T	0.170	0.51117	T	10	0.02683872	0.00841	T	0.127888	0.80975	D	0.242	0.54781	0.267	0.21418	0.758340695981	0.75614	0.2775715320548507	0.27670	0.628732072962	0.56933	0.873609244823	0.93081	D	0.099645	0.40465	T	-0.326427	0.06385	T	-0.24597	0.50214	T	0.113460265917684	0.13779	T	0.659534	0.26859	T	0.22299524	0.44910	0.1473918	0.34882	0.22299524	0.44910	0.1473918	0.34881	-4.937	0.36148	T	.	.	0.495	0.64339	A	.;.	.;.	2.642721	0.34393	19.61	0.99552035792337346	0.71211	0.88427	0.48350	D	AEFDBI	0.368405	0.45552	N	0.218877275095976	0.52114	3.387724	0.252231669834242	0.52776	3.450251	0.999992360278357	0.74766	0.72623	0.87236	0	0.694456	0.67091	0	0.594344	0.31042	0	0.714379	0.83352	0	.	.	4.92	4.92	0.64147	0.956000	0.28799	5.610000	0.49052	0.443000	0.21123	0.154000	0.23713	1.000000	0.68203	0.164000	0.20782	0.0:1.0:0.0:0.0	13.588	0.61407	836	0.38045	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	858.98	33	chr19	45396182	.	C	G	858.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.540e-01;DP=777;ExcessHet=0.0000;FS=3.687;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=0.724;SOR=1.292	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1222	20	0	1	0
chr19	45408329	45408329	C	T	exonic	POLR1G	.	nonsynonymous SNV	POLR1G:NM_001297590:exon3:c.C367T:p.P123S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.779	P	0.397	B	0.088	N	1.000	N	1.905	M	2.56	T	-1.079	T	0.040	T	0.109	2.473	14.23	3.14	0.606	0.605	8.031	0.039	0.00695633317249	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1158414554	6.866e-07	6.84e-07	0	1.382e-06	1.163e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.163e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.0	0.92824	D	0.779	0.44223	P	0.397	0.44399	B	0.087789	0.20515	N	0.509628	0.999999	0.08975	N	2.685	0.78553	M	2.56	0.13673	T	-4.0	0.74051	D	0.161	0.20395	-1.0786	0.07622	T	0.040	0.17149	T	10	0.13890749	0.26415	T	0.006956	0.18402	T	0.039	0.10176	0.479	0.55823	0.367229591828	0.36328	0.37011694610344864	0.36925	0.311470906699	0.33450	0.351215183735	0.18101	T	0.064454	0.32439	T	-0.332459	0.05927	T	-0.614701	0.11606	T	0.49671533703804	0.32510	T	0.614539	0.23442	T	0.15954915	0.35835	0.19961107	0.43851	0.15954915	0.35835	0.19961107	0.43850	-3.643	0.18481	T	.	.	0.126	0.26576	B	.;.	.;.	2.157067	0.27476	17.48	0.99806831098475812	0.89085	0.05742	0.11669	N	AEFBHCI	0.050969	0.08958	N	-0.309872862869335	0.28772	1.589812	-0.414901555232152	0.24559	1.345561	0.99987167134417	0.44625	0.722319	0.85440	0	0.702456	0.74545	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	5.27	3.14	0.35196	0.646000	0.24486	2.103000	0.30614	0.599000	0.40250	0.002000	0.15269	0.008000	0.19753	0.645000	0.32557	0.0:0.8121:0.0:0.1879	8.031	0.29626	861	0.33516	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	994.98	50	chr19	45408329	.	C	T	994.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=954;ExcessHet=0.0000;FS=0.910;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.21;ReadPosRankSum=0.206;SOR=0.812	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,118,1530	20	0	1	0
chr19	45408641	45408641	G	A	exonic	POLR1G	.	nonsynonymous SNV	POLR1G:NM_001297590:exon3:c.G679A:p.E227K	.	.	398	1116	7	1	0	9	0.00401606	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	1.0	D	0.985	D	0.035	N	0.784	N	2.005	M	2.5	T	-1.074	T	0.079	T	0.309	2.009	12.67	4.33	2.245	1.711	10.261	0.060	0.0136400898117	0.0019	0.000798722	0.0013	0.0005	8.67e-05	0	0.0008	0.0017	0.0045	0.0013	0.0012807	198	154602	rs113047593	0.0020	0.0020	0.0020	0.0019	0.0023	0.0019	0.0019	0.0022	0.0022	0.0002	4.472e-05	3.826e-05	0	0.0005	0.0019	0.0023	0.0014	0.0022	0.0011	0.0011	0.0012	0.0010	0.0020	0.0010	0.0009	0.0018	0.0017	0.0004	0	0	0	0	0	0	0.0020	0.0009	0.0017	0.053	0.38863	T	0.06	0.45744	T	1.0	0.90584	D	0.985	0.76457	D	0.034747	0.24730	N	0.336436	0.783742	0.29304	N	2.72	0.79541	M	2.5	0.14408	T	-1.66	0.39692	N	0.15	0.20793	-1.0743	0.08493	T	0.079	0.31435	T	10	0.009910941	0.00222	T	0.01364	0.33196	T	0.060	0.17295	.	.	0.294206760003	0.29026	0.2180586157471834	0.21721	0.600283134816	0.55121	0.332840621471	0.15362	T	0.018136	0.14670	T	-0.507029	0.00522	T	-0.494549	0.22916	T	0.0306642108923069	0.02093	T	0.60064	0.22426	T	0.099687874	0.23530	0.1127208	0.27200	0.099687874	0.23530	0.1127208	0.27199	-6.752	0.52418	T	.	.	0.096	0.15206	B	.;.	.;.	2.027335	0.25767	16.88	0.99121188166760132	0.52985	0.17794	0.19990	N	AEFBCI	.	.	.	0.0451845354351822	0.43921	2.675719	-0.153414909380274	0.33278	1.901862	0.99981760845323	0.43459	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.33	4.33	0.51083	1.935000	0.39802	.	.	0.676000	0.76740	0.037000	0.20830	.	.	0.013000	0.09966	0.0:0.2012:0.7987:0.0	10.261	0.42604	861	0.33516	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1549.98	50	chr19	45408641	.	G	A	1549.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.180e-01;DP=1034;ExcessHet=0.0000;FS=3.651;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.09;ReadPosRankSum=0.474;SOR=0.392	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,118,1530	20	0	1	0
chr19	45413721	45413721	A	G	exonic	ERCC1	.	nonsynonymous SNV	ERCC1:NM_001369411:exon7:c.T727C:p.S243P	Cerebrooculofacioskeletal syndrome 4, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	626277	not_provided|Cerebrooculofacioskeletal_syndrome_4	MedGen:CN517202|MONDO:MONDO:0012554,MedGen:C1853100,OMIM:610758	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.997	D	0.000	D	1.000	D	2.795	M	0.4	T	0.048	D	0.492	T	0.858	3.673	18.67	4.98	2.110	6.604	11.032	0.447	0.140987873664	0.0003	.	0.0002	0	0.0002	0	0	0.0002	0.0033	0.0004	0.0001617	25	154602	rs146256515	0.0001	0.0001	0.0001	0.0002	0.0011	0.0001	0.0001	0.0005	0.0004	0.0001	0.0003	0.0018	0	0	0.0011	6.924e-05	0.0003	0.0006	0.0001	0.0001	0.0001	0.0001	0.0002	7.094e-05	5.75e-05	3.762e-05	2.575e-05	0	0	6.549e-05	0.0020	0	0	0	8.819e-05	0.0010	0.0002	0.031	0.45039	D	0.019	0.60337	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999998	0.81001	D	2.925	0.84406	M	0.4	0.68754	T	-3.87	0.72594	D	0.785	0.80473	0.048	0.83199	D	0.492	0.80698	T	10	0.504733	0.61752	D	0.140988	0.82342	D	0.447	0.74866	.	.	0.714945984872	0.71244	0.8161048006569775	0.81566	0.702002171826	0.61195	0.584599018097	0.50733	T	0.326485	0.69710	T	0.0477232	0.58050	T	0.187152	0.82406	D	0.55182009935379	0.34546	D	0.813119	0.46553	T	0.7625674	0.81606	0.56877184	0.75034	0.7907229	0.83320	0.5100548	0.71687	-9.218	0.69089	D	0.3242910697629077	0.42243	0.234	0.46677	B	.;.;.;.;.;.	.;.;.;.;.;.	3.722174	0.53200	23.3	0.99738478025317523	0.83337	0.97888	0.77885	D	AEFDBI	0.797795	0.72453	D	0.570641096276503	0.71347	5.637151	0.432315215771083	0.63588	4.59572	0.999979591748004	0.50053	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.98	4.98	0.65679	6.625000	0.74112	11.029000	0.85041	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.571000	0.30675	1.0:0.0:0.0:0.0	11.032	0.46993	867	0.32089	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	348.98	36	chr19	45413721	.	A	G	348.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.473e+00;DP=697;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.69;ReadPosRankSum=0.519;SOR=0.527	GT:AD:DP:GQ:PL	0/0:25,0:25:66:0,66,990	20	0	1	0
chr19	45419130	45419130	C	T	exonic	ERCC1	.	nonsynonymous SNV	ERCC1:NM_001369411:exon4:c.G493A:p.A165T	Cerebrooculofacioskeletal syndrome 4, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.884	P	0.109	B	0.011	N	0.658	D	0.55	N	0.94	T	-1.016	T	0.045	T	0.126	2.121	13.05	3.59	2.159	2.697	9.989	0.043	0.00454591223057	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs758217738	1.598e-05	1.71e-05	1.654e-05	1.541e-05	2.415e-05	1.064e-05	8.89e-06	1.104e-05	8.9e-06	0	0	0	0	0	0	1.727e-05	3.362e-05	2.415e-05	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.556	0.06461	T	0.573	0.09113	T	0.79	0.44599	P	0.062	0.26930	B	0.010710	0.29815	N	0.342406	0.65807	0.33026	D	0.405	0.12330	N	0.94	0.44461	T	-1.14	0.30762	N	0.2	0.29774	-1.0163	0.24916	T	0.045	0.19356	T	10	0.1454336	0.27587	T	0.004546	0.11189	T	0.043	0.11576	0.308	0.27967	0.380223377699	0.37629	0.21598456024666457	0.21514	0.142922433737	0.16124	0.467398941517	0.34324	T	0.209293	0.56946	T	-0.241111	0.15206	T	-0.584116	0.14179	T	0.387334677316622	0.28463	T	0.919908	0.82903	D	0.13537693	0.31420	0.10549051	0.25360	0.13537693	0.31420	0.10549051	0.25359	-6.556	0.50716	T	0.09384808221118544	0.06217	0.075	0.09820	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.107739	0.41911	21.4	0.98633424943394454	0.43947	0.53168	0.29306	D	AEFDGBCI	0.188974	0.31624	N	-0.112790991197356	0.36834	2.135	0.0231346342551424	0.40791	2.440121	0.999999027188126	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.71	3.59	0.40253	2.964000	0.48885	3.176000	0.36634	0.599000	0.40250	1.000000	0.71638	0.997000	0.33255	0.985000	0.61073	0.0:0.7938:0.2062:0.0	9.989	0.41030	884	0.28482	.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	507.98	35	chr19	45419130	.	C	T	507.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.202e+00;DP=760;ExcessHet=0.0000;FS=5.764;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.58;ReadPosRankSum=2.23;SOR=1.061	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1352	20	0	1	0
chr19	45493238	45493238	C	T	exonic	RTN2	.	nonsynonymous SNV	RTN2:NM_005619:exon5:c.G955A:p.V319I,	Spastic paraplegia 12, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.39	B	0.108	B	0.401	U	1.000	D	0	N	0.92	T	-1.064	T	0.059	T	0.147	2.162	13.19	4.42	2.750	0.925	12.825	0.068	0.00836235558971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.722	0.03903	T	0.331	0.18505	T	0.39	0.34593	B	0.108	0.31289	B	0.401310	0.13121	U	0.563267	1	0.81001	D	0	0.06538	N	0.92	0.45636	T	-0.3	0.11913	N	0.185	0.20129	-1.0642	0.10736	T	0.059	0.24612	T	10	0.09375319	0.16616	T	0.008362	0.22130	T	0.068	0.19811	0.354	0.35408	0.128874641272	0.12493	0.0835939386846894	0.08293	0.379294730171	0.39326	0.595422327518	0.52258	T	0.086138	0.37658	T	-0.133773	0.30888	T	-0.429932	0.29942	T	0.287481348138446	0.24484	T	0.548745	0.18852	T	0.078692965	0.17934	0.09075622	0.21302	0.078692965	0.17934	0.09075622	0.21301	-4.304	0.28232	T	.	.	0.106	0.19720	B	.;.	.;.	2.312867	0.29612	18.18	0.99325181526027984	0.59546	0.15371	0.18879	N	ALL	0.087443	0.17731	N	-0.444458389452728	0.23929	1.288445	-0.380794032752582	0.25570	1.407005	0.999999999970589	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.47417	0.07244	0	0.372554	0.06265	0	.	.	4.42	4.42	0.52775	1.088000	0.30489	2.306000	0.32047	0.547000	0.25779	0.313000	0.25441	0.944000	0.28851	0.687000	0.33748	0.0:1.0:0.0:0.0	12.825	0.57099	797	0.45241	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1818.98	35	chr19	45493238	.	C	T	1818.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.260e-01;DP=898;ExcessHet=0.0000;FS=4.069;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.09;ReadPosRankSum=-6.300e-02;SOR=0.414	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr19	45642178	45642178	G	C	exonic	EML2	.	nonsynonymous SNV	EML2:NM_001193268:exon2:c.C347G:p.T116S	.	.	425	1087	10	0	0	10	0.00457875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.91	T	0.011	B	0.016	B	.	.	1.000	D	-0.695	N	-0.65	T	-1.022	T	0.095	T	0.149	1.222	9.958	2.04	0.412	1.968	6.788	0.037	0.10136640185	.	0.00319489	0.0078	0.0061	0.0071	0	0	0.0054	0	0.0097	0.0010284	159	154602	rs541800318	0.0041	0.0039	0.0039	0.0042	0.0092	0.0040	0.0039	0.0072	0.0068	0.0006	0.0025	0.0030	2.808e-05	0.0018	0.0092	0.0042	0.0035	0.0075	0.0027	0.0027	0.0029	0.0024	0.0077	0.0025	0.0024	0.0057	0.0050	0.0008	0.0011	0.0024	0.0020	0.0002	0.0012	0	0.0040	0.0033	0.0077	0.493	0.07920	T	1.0	0.02453	T	.	.	.	.	.	.	.	.	.	.	0.993494	0.81001	N	.	.	.	-0.65	0.72237	T	-0.31	0.12099	N	0.137	0.13484	-1.0217	0.23162	T	0.095	0.35818	T	9	0.0064721406	0.00146	T	0.101366	0.77421	D	0.037	0.09474	0.244	0.17830	0.590049670599	0.58680	0.11486363384604088	0.11414	0.271104478552	0.29633	0.812290132046	0.83843	D	0.007335	0.06752	T	-0.423368	0.01629	T	-0.377747	0.35986	T	0.00479655556861439	0.00051	T	0.563244	0.26249	T	.	.	.	.	.	.	.	.	-2.385	0.05514	T	.	.	0.078	0.06990	B	.;.;.	.;.;.	2.545981	0.32943	19.19	0.9069818220400454	0.19948	0.84162	0.43245	D	ALL	0.173387	0.30046	N	-0.740736115010348	0.14887	0.745418	-0.543705437793406	0.20973	1.13241	0.999999999999993	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.249971	0.05119	0	.	.	4.24	2.04	0.25787	3.017000	0.49302	7.324000	0.58176	0.673000	0.70640	1.000000	0.71638	1.000000	0.68203	0.839000	0.39591	0.2192:0.0:0.7808:0.0	6.788	0.22868	779	0.47767	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	948.98	33	chr19	45642178	.	G	C	948.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.044;DP=783;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=0.458;SOR=0.631	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1251	20	0	1	0
chr19	45681747	45681747	C	A	exonic	GIPR	.	nonsynonymous SNV	GIPR:NM_001308418:exon13:c.C1105A:p.R369S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.344	B	0.15	B	0.125	N	1.000	N	2.045	M	-0.14	T	-0.714	T	0.217	T	0.589	3.817	19.38	4.12	2.705	2.398	10.044	0.266	0.15234213547	.	.	3.606e-05	0	0	0	0	6.652e-05	0	0	3.23e-05	5	154602	rs747689249	1.784e-05	1.915e-05	2.048e-05	1.518e-05	0.0002	1.242e-05	1.055e-05	1.298e-05	1.108e-05	2.996e-05	0	0	0	0	0.0002	1.982e-05	3.332e-05	0	6.564e-06	6.562e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.003	0.68238	D	0.03	0.54159	D	0.156	0.28196	B	0.016	0.17743	B	0.124969	0.18860	N	0.390532	1	0.81001	D	3.165	0.88605	M	-0.14	0.65006	T	-3.11	0.63669	D	0.295	0.46742	-0.7137	0.59771	T	0.217	0.57915	T	10	0.29704246	0.47266	T	0.152342	0.83377	D	0.266	0.57999	0.525	0.62967	0.840968558921	0.83944	0.5797079042405229	0.57899	0.297358880734	0.32117	0.521650493145	0.41859	T	0.531985	0.83821	D	0.0512447	0.58502	T	-0.164167	0.57975	T	0.3696609391598	0.27784	T	0.715328	0.32778	T	0.37154022	0.58699	0.4626709	0.68804	0.37154022	0.58699	0.4626709	0.68804	-9.554	0.71195	D	.	.	0.466	0.62985	A	.;.	.;.	3.637666	0.51562	23.1	0.99439421006332096	0.64670	0.18954	0.20469	N	ALL	0.204887	0.33129	N	0.143941924781266	0.48525	3.063743	0.249378329846761	0.52616	3.435105	1.0	0.98316	0.443343	0.08805	1	0.52208	0.09955	0	0.666236	0.60216	0	0.603991	0.37454	0	.	.	5.2	4.12	0.47504	0.708000	0.25393	1.547000	0.27267	0.509000	0.23192	0.181000	0.24076	0.994000	0.32194	0.996000	0.76049	0.2148:0.7852:0.0:0.0	10.044	0.41348	856	0.34373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1832.98	34	chr19	45681747	.	C	A	1832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=849;ExcessHet=0.0000;FS=9.336;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.99;ReadPosRankSum=-7.030e-01;SOR=1.214	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,104,1275	20	0	1	0
chr19	45702991	45702991	C	T	exonic	QPCTL	.	nonsynonymous SNV	QPCTL:NM_001163377:exon6:c.C809T:p.T270M	.	.	435	1074	13	0	0	13	0.00601573	.	.	2808918	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.835	H	0.6	T	0.132	D	0.407	T	0.837	3.653	18.57	5.71	2.709	7.475	17.361	0.509	.	0.0042	0.00319489	0.0048	0.0008	0.0027	0	0.0076	0.0060	0.0066	0.0051	0.0046571	720	154602	rs117220573	0.0055	0.0055	0.0054	0.0055	0.0127	0.0054	0.0053	0.0103	0.0095	0.0008	0.0032	0.0155	5.038e-05	0.0071	0.0127	0.0055	0.0055	0.0058	0.0048	0.0048	0.0048	0.0049	0.0063	0.0046	0.0044	0.0058	0.0056	0.0010	0.0011	0.0054	0.0196	0.0002	0.0075	0.0136	0.0063	0.0038	0.0046	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.18	0.88827	M	0.6	0.53731	T	-5.95	0.89152	D	0.769	0.77507	0.132	0.84734	D	0.407	0.75656	T	10	0.020620137	0.00478	T	.	.	.	0.509	0.78910	.	.	0.843917050134	0.84241	0.7657557228356774	0.76524	1.01633845458	0.74964	0.474044382572	0.35237	T	0.181289	0.53291	T	-0.0776471	0.40096	T	0.120114	0.78244	D	0.0534965583521286	0.06103	T	0.933407	0.77799	D	0.89458495	0.90904	0.7659443	0.86175	0.89458495	0.90905	0.7659443	0.86176	-9.812	0.76990	D	.	.	0.287	0.52993	B	.;.	.;.	4.919810	0.81018	27.5	0.99905262144289264	0.97576	0.98475	0.83169	D	AEFBI	0.868689	0.78891	D	0.902401251443892	0.91877	11.11199	0.776634405796864	0.88125	9.466701	0.999999999999899	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.71	5.71	0.89031	7.628000	0.82379	7.557000	0.60396	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.064000	0.16252	0.0:1.0:0.0:0.0	17.361	0.87240	895	0.25842	Peptidase M28|M28 Zn-Peptidase Glutaminyl Cyclase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3145.98	39	chr19	45702991	.	C	T	3145.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.34;DP=1540;ExcessHet=0.0000;FS=5.522;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.28;ReadPosRankSum=1.96;SOR=0.939	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,108,1620	20	0	1	0
chr19	45765743	45765743	C	T	exonic	SIX5	.	nonsynonymous SNV	SIX5:NM_175875:exon3:c.G1978A:p.A660T,	Branchiootorenal syndrome 2	.	0	1520	2	0	0	2	0.000657462	.	.	1254753	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.279	B	0.034	B	0.350	N	1.000	N	0	N	-2.84	D	-0.488	T	0.422	T	0.183	2.504	14.33	0.515	0.398	0.893	2.671	0.204	0.13006633139	.	0.00159744	0.0008	0	0	0	0	4.673e-05	0	0.0055	0.0006856	106	154602	rs549777158	0.0003	0.0003	0.0002	0.0005	0.0052	0.0003	0.0003	0.0048	0.0047	0.0001	0	0	5.038e-05	0	0.0005	8.094e-06	0.0005	0.0052	0.0002	0.0002	0.0001	0.0003	0.0060	0.0001	0.0001	0.0043	0.0037	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0.0060	0.353	0.12187	T	0.449	0.27679	T	0.279	0.32056	B	0.034	0.22546	B	0.349550	0.04237	N	1.396620	1	0.08975	N	0	0.06538	N	-2.84	0.91305	D	-0.31	0.12099	N	0.193	0.21188	-0.4882	0.69072	T	0.422	0.76690	T	10	0.0054204166	0.00119	T	0.130066	0.81218	D	0.204	0.49076	0.166	0.07071	0.853836839074	0.85242	0.17199938041361743	0.17119	0.0855303882618	0.09661	0.646423339844	0.59477	T	0.103917	0.41301	T	-0.357427	0.04278	T	-0.285518	0.46237	T	0.00944237649314539	0.00121	T	0.781022	0.41604	T	0.031028708	0.02870	0.02948552	0.01292	0.034057472	0.03749	0.033114202	0.02154	-4.392	0.29448	T	.	.	0.094	0.28721	B	.;.;.	.;.;.	1.229050	0.16235	12.41	0.99682846346504583	0.79373	0.07527	0.13541	N	AEFDBCIJ	0.057635	0.10753	N	-0.860023842335185	0.11804	0.5716886	-0.884489780978249	0.12461	0.6411017	0.999942194116028	0.47345	0.741868	0.97996	0	0.694456	0.67091	0	0.774882	0.98623	0	0.683762	0.67416	0	.	.	4.19	0.515	0.16211	1.484000	0.35116	1.984000	0.30047	0.599000	0.40250	0.069000	0.22043	0.961000	0.29326	0.260000	0.23518	0.1876:0.5226:0.1826:0.1072	2.671	0.04752	799	0.44747	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1954.98	33	chr19	45765743	.	C	T	1954.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.392;DP=1262;ExcessHet=0.0000;FS=0.629;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=1.36;SOR=0.810	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,120,1800	20	0	1	0
chr19	45814619	45814619	A	C	exonic	RSPH6A	.	nonsynonymous SNV	RSPH6A:NM_030785:exon1:c.T558G:p.S186R,	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.148	B	0.016	B	0.214	N	1.000	N	0.695	N	2.5	T	-1.013	T	0.027	T	0.071	1.458	10.82	-5.31	-1.363	-2.733	15.590	0.058	0.00609819366628	.	0.000199681	0.0002	9.872e-05	0	0	0	4.691e-05	0	0.0014	0.0001617	25	154602	rs200079375	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0008	0.0008	0	2.358e-05	0	0	0	0	0.0001	6.72e-05	0.0010	9.852e-05	9.845e-05	0.0001	6.717e-05	0.0006	6.004e-05	4.878e-05	0.0002	9.003e-05	7.219e-05	0	0	0	0	0	0	0.0001	0	0.0006	0.123	0.27544	T	0.491	0.29540	T	0.148	0.27908	B	0.016	0.17743	B	0.214119	0.03408	N	1.681860	1	0.08975	N	0.975	0.24501	L	2.5	0.18083	T	-1.19	0.30346	N	0.076	0.05287	-1.0132	0.25912	T	0.027	0.11574	T	10	0.0095002055	0.00214	T	0.006098	0.15964	T	0.058	0.16647	0.297	0.26202	0.0138822411134	0.00435	0.12767360158518928	0.12693	0.126057350165	0.14207	0.393298566341	0.24134	T	0.02534	0.18966	T	-0.664861	0.00059	T	-0.773355	0.02659	T	0.0208574015164198	0.00786	T	0.416558	0.10945	T	0.11210553	0.26487	0.16064027	0.37405	0.11210553	0.26486	0.16064027	0.37404	-4.067	0.24802	T	.	.	0.171	0.42848	B	.;.	.;.	-1.114569	0.00623	0.016	0.75452440248110697	0.11081	0.04688	0.10372	N	AEFDBCI	0.117268	0.22980	N	-1.43500890104894	0.02337	0.103084	-1.54056598896535	0.02041	0.09331669	0.99999912065203	0.74766	0.455138	0.09556	0	0.379588	0.06130	0	0.606884	0.38211	0	0.711	0.71501	0	.	.	4.76	-5.31	0.02519	-2.890000	0.00777	-2.998000	0.03154	-0.633000	0.04490	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.281:0.0:0.719:0.0	15.590	0.76265	814	0.42100	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	749.98	35	chr19	45814619	.	A	C	749.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.082;DP=758;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.37;ReadPosRankSum=2.44;SOR=0.683	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1087	20	0	1	0
chr19	45815966	45815966	A	C	exonic	SYMPK	.	nonsynonymous SNV	SYMPK:NM_004819:exon26:c.T3572G:p.F1191C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.661	P	0.282	B	0.007	N	0.928	N	0.345	N	.	.	-1.079	T	0.049	T	0.374	2.558	14.51	3.35	0.697	3.080	6.765	0.070	0.00363700219408	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.856e-07	6.84e-07	1.364e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.009	0.66756	D	0.661	0.40924	P	0.282	0.40384	B	0.007289	0.31484	N	0.201016	0.92794	0.27132	N	1.355	0.33814	L	.	.	.	-0.5	0.15782	N	0.511	0.54234	-1.0793	0.07485	T	0.049	0.20908	T	9	0.22733942	0.39611	T	0.003637	0.08371	T	0.070	0.20419	0.18	0.08751	0.043077524339	0.03247	0.16837958137873008	0.16757	0.103337010466	0.11688	0.781675338745	0.79180	T	0.062332	0.31888	T	-0.0437776	0.45385	T	-0.30066	0.44655	T	0.637669146060944	0.37938	D	0.806819	0.45619	T	0.09184844	0.21533	0.060370307	0.11487	0.09184844	0.21532	0.060370307	0.11486	-3.198	0.12456	T	.	.	0.169	0.37178	B	.	.	3.898478	0.56773	23.8	0.96063630857500337	0.28599	0.68210	0.33716	D	ALL	0.488480	0.52679	N	-0.0898170093705616	0.37838	2.207241	-0.00637963880585492	0.39427	2.337476	0.999999973911677	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.504199	0.09095	0	0.71	0.69187	0	.	.	4.4	3.35	0.37468	1.945000	0.39900	8.815000	0.78275	0.677000	0.82338	0.986000	0.36153	1.000000	0.68203	0.969000	0.54022	0.7818:0.0:0.0:0.2182	6.765	0.22747	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1065.98	36	chr19	45815966	.	A	C	1065.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.35;DP=860;ExcessHet=0.0000;FS=1.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.96;ReadPosRankSum=-4.560e-01;SOR=0.868	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1184	20	0	1	0
chr19	45890811	45890811	C	T	exonic	MYPOP	.	nonsynonymous SNV	MYPOP:NM_001012643:exon3:c.G1012A:p.V338M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.886	P	0.010	N	1.000	N	0.345	N	0.73	T	-0.983	T	0.137	T	0.328	1.813	12.02	3.65	1.972	1.548	11.564	0.086	0.144873332291	.	.	0.0006	0	0.0061	0	0	0.0002	0	0	8.41e-05	13	154602	rs767770043	9.359e-05	0.0001	7.663e-05	0.0001	0.0009	7.926e-05	7.37e-05	0.0007	0.0007	7.895e-05	0.0009	0	0.0001	0	0.0005	1.707e-05	0.0001	0.0009	6.418e-05	6.104e-05	6.021e-05	6.87e-05	0.0011	3.155e-05	2.289e-05	0.0004	0.0002	3.03e-05	0	0.0001	0	0	0	0	3.192e-05	0	0.0011	0.007	0.59928	D	0.204	0.27235	T	0.999	0.77913	D	0.886	0.62898	P	0.010193	0.30029	N	0.142736	0.999861	0.19989	N	0.55	0.14455	N	0.73	0.50721	T	-0.56	0.17003	N	0.226	0.25377	-0.9829	0.34328	T	0.137	0.45432	T	10	0.011066467	0.00243	T	0.144873	0.82710	D	0.086	0.25016	.	.	0.147330786459	0.14319	0.15549362507141315	0.15470	0.867531014331	0.69267	0.898566484451	0.96279	D	0.008789	0.08043	T	-0.377652	0.03223	T	-0.405603	0.32734	T	0.0633792678855372	0.07690	T	0.648035	0.25918	T	0.098697186	0.23283	0.10657172	0.25640	0.098697186	0.23283	0.10657172	0.25639	-6.033	0.46555	T	.	.	0.302	0.53151	B	.	.	4.008100	0.59104	24.1	0.99843931349653881	0.92403	0.63618	0.32146	D	AEFBI	0.073893	0.14794	N	0.116657614989005	0.47240	2.952502	0.0565149321894078	0.42389	2.562944	0.677158666838935	0.22438	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.528226	0.09195	0	.	.	3.65	3.65	0.40985	2.239000	0.42728	4.302000	0.42943	0.503000	0.22915	0.938000	0.32564	1.000000	0.68203	0.205000	0.22041	0.0:1.0:0.0:0.0	11.564	0.50046	712	0.56465	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	660.98	32	chr19	45890811	.	C	T	660.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.630e-01;DP=753;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.06;ReadPosRankSum=-1.070e+00;SOR=0.819	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1247	20	0	1	0
chr19	46018311	46018311	C	T	exonic	CCDC61	.	nonsynonymous SNV	CCDC61:NM_001267723:exon14:c.C1463T:p.A488V,	.	.	392	1115	15	0	0	15	0.00668151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.001	B	0.001	B	0.150	N	1.000	N	1.155	L	.	.	-1.039	T	0.071	T	0.042	1.972	12.55	2.39	0.355	0.636	6.313	0.018	.	0.0006	0.00359425	0.0059	0.0008	0.0112	0	0	0.0022	0.0037	0.0151	0.0018434	285	154602	rs200930017	0.0015	0.0015	0.0012	0.0019	0.0131	0.0015	0.0014	0.0125	0.0122	0.0002	0.0015	0.0001	0.0001	0.0001	0.0129	0.0008	0.0014	0.0131	0.0010	0.0010	0.0008	0.0011	0.0130	0.0009	0.0008	0.0105	0.0095	9.622e-05	0	0.0008	0	0.0002	0	0.0136	0.0010	0.0009	0.0130	0.01	0.56456	D	0.106	0.37872	T	.	.	.	.	.	.	0.150065	0.17997	N	0.565165	0.999996	0.08975	N	2.015	0.55033	M	.	.	.	-0.15	0.09297	N	0.1	0.19593	-1.0391	0.17587	T	0.071	0.29034	T	9	0.0035758913	0.00065	T	.	.	.	0.018	0.03083	.	.	0.229264304666	0.22521	0.3306702447853706	0.32980	0.833967175837	0.67741	0.409634768963	0.26406	T	0.003717	0.03121	T	-0.637576	0.00086	T	-0.677579	0.07132	T	0.0187710791674414	0.00589	T	0.610839	0.23175	T	0.020563293	0.00619	0.057317853	0.10398	0.020563293	0.00619	0.057317853	0.10398	-5.148	0.45909	T	.	.	0.095	0.32469	B	.;.;.	.;.;.	2.282466	0.29185	18.04	0.98973339018356021	0.49580	0.14098	0.18221	N	AEFDBI	0.077167	0.15541	N	-0.822255558081436	0.12742	0.6230783	-0.756162632851209	0.15572	0.8195905	0.00144421728894764	0.08543	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.61	2.39	0.28492	0.246000	0.17935	0.534000	0.19274	-0.856000	0.02670	0.267000	0.25017	0.066000	0.22130	0.776000	0.36750	0.0:0.699:0.1949:0.1061	6.313	0.20384	693	0.58582	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1429.11	36	chr19	46018311	.	C	T	1429.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.36;DP=860;ExcessHet=0.1072;FS=2.988;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.72;ReadPosRankSum=1.02;SOR=0.475	GT:AD:DP:GQ:PL	0/1:42,39:81:99:927,0,983	19	0	2	0
chr19	46148279	46148279	A	G	exonic	IGFL2	.	startloss	IGFL2:NM_001135113:exon1:c.A1G:p.M1V,	.	.	427	1069	25	1	0	27	0.0124711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.112	B	0.028	B	.	.	1.000	N	.	.	1.92	T	-1.014	T	0.040	T	0.794	0.114	4.614	0.983	0.689	-0.261	4.179	0.178	.	0.0009	0.00359425	0.0060	0.0005	0	0.0016	0	0.0006	0.0052	0.0140	0.0011125	172	154602	rs377089398	0.0012	0.0012	0.0009	0.0016	0.0120	0.0012	0.0012	0.0114	0.0112	9.496e-05	0.0008	7.943e-05	2.798e-05	0	0.0086	0.0006	0.0014	0.0120	0.0008	0.0008	0.0006	0.0011	0.0118	0.0007	0.0007	0.0094	0.0085	7.217e-05	0	0.0010	0	0	0	0.0170	0.0007	0.0014	0.0118	0.016	0.51853	D	0.04	0.50809	D	0.112	0.26290	B	0.028	0.21332	B	.	.	.	.	1	0.81001	D	.	.	.	1.92	0.23082	T	-2.11	0.48020	N	0.541	0.56833	-1.0141	0.25625	T	0.040	0.17319	T	8	0.007847816	0.00178	T	.	.	.	0.178	0.44724	.	.	0.165133752707	0.16062	.	.	.	.	.	.	.	0.193664	0.54920	T	-0.338231	0.05511	T	-0.246946	0.50118	T	0.00363277649447092	0.00038	T	0.9	0.65058	D	0.29324874	0.52293	0.230962	0.48214	0.29324874	0.52293	0.230962	0.48213	-8.89	0.66985	D	.	.	.	.	.	.	.	0.057319	0.04691	1.334	0.81539203245492109	0.13735	0.01646	0.05293	N	AEFBCI	0.013246	0.00170	N	-0.88481743698973	0.11203	0.5393797	-1.01601279641689	0.09433	0.46928	0.388677172421423	0.20026	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	0.983	0.983	0.18886	-0.268000	0.08637	0.415000	0.18155	0.483000	0.22176	0.046000	0.21249	0.000000	0.08366	0.024000	0.12247	1.0:0.0:0.0:0.0	4.179	0.09826	739	0.53257	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1774.98	34	chr19	46148279	.	A	G	1774.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.271e+00;DP=838;ExcessHet=0.0000;FS=1.324;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=-7.370e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr19	46160724	46160724	G	A	exonic	IGFL2	.	nonsynonymous SNV	IGFL2:NM_001135113:exon3:c.G184A:p.E62K	.	.	428	1070	23	1	0	25	0.0115473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.083	B	0.014	B	.	.	1.000	N	0.345	N	2.24	T	-1.012	T	0.020	T	0.125	0.548	6.965	-5.65	-2.544	-2.561	7.865	0.015	.	.	0.00359425	0.0021	0.0006	0.0007	0.0001	0	0.0007	0.0022	0.0118	0.0019663	304	154602	rs201027157	0.0012	0.0012	0.0008	0.0016	0.0118	0.0012	0.0011	0.0112	0.0110	0.0002	0.0008	7.652e-05	2.519e-05	3.745e-05	0.0085	0.0005	0.0015	0.0118	0.0009	0.0009	0.0007	0.0011	0.0118	0.0007	0.0007	0.0094	0.0085	0.0002	0	0.0009	0	0	0	0.0170	0.0006	0.0014	0.0118	0.138	0.25873	T	0.277	0.25210	T	0.038	0.24734	B	0.01	0.16862	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.24	0.17923	T	1.16	0.01136	N	0.27	0.30574	-1.0120	0.26291	T	0.020	0.08500	T	9	0.004786551	0.00101	T	.	.	.	0.015	0.02232	.	.	0.238096912614	0.23440	0.14811119383218502	0.14733	0.112610028848	0.12714	0.330738186836	0.15047	T	0.026954	0.19841	T	-0.697505	0.00038	T	-0.763663	0.02983	T	0.00347277769120586	0.00037	T	0.278472	0.04815	T	0.022081917	0.00848	0.040212702	0.04292	0.022081917	0.00848	0.040212702	0.04292	-3.622	0.18466	T	.	.	0.092	0.13503	B	.;.;.	.;.;.	-0.599967	0.01572	0.104	0.53376249297463041	0.04928	0.00107	0.00683	N	AEFBI	0.020659	0.00838	N	-1.95927417860576	0.00258	0.01108373	-2.07184237032582	0.00215	0.009451749	0.944152209158982	0.27602	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	2.83	-5.65	0.02262	-2.833000	0.00811	-5.104000	0.01848	-1.937000	0.00494	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4761:0.1637:0.3601:0.0	7.865	0.28693	725	0.54935	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3195.98	34	chr19	46160724	.	G	A	3195.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=1083;ExcessHet=0.0000;FS=0.433;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=0.480;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1334	20	0	1	0
chr19	46160730	46160730	C	T	exonic	IGFL2	.	nonsynonymous SNV	IGFL2:NM_001135113:exon3:c.C190T:p.R64C	.	.	428	1070	23	1	0	25	0.0115473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.953	P	0.453	P	.	.	1.000	N	1.04	L	1.66	T	-1.030	T	0.058	T	0.221	1.987	12.60	-1.06	-0.106	-0.131	8.339	0.035	.	0.0007	0.00359425	0.0021	0.0005	0.0007	0.0002	0	0.0007	0.0022	0.0119	0.0020246	313	154602	rs199636519	0.0012	0.0012	0.0009	0.0016	0.0118	0.0012	0.0012	0.0112	0.0109	0.0001	0.0008	7.652e-05	0.0001	0	0.0085	0.0005	0.0015	0.0118	0.0008	0.0008	0.0006	0.0011	0.0118	0.0007	0.0007	0.0094	0.0085	9.63e-05	0	0.0009	0	0	0	0.0170	0.0006	0.0014	0.0118	0.001	0.78490	D	0.004	0.76473	D	0.882	0.54283	P	0.301	0.46205	B	.	.	.	.	1	0.08975	N	2.14	0.59869	M	1.66	0.27486	T	-5.98	0.89334	D	0.273	0.34336	-1.0295	0.20616	T	0.058	0.24204	T	9	0.004361242	0.00089	T	.	.	.	0.035	0.08770	.	.	0.595925879249	0.59271	0.21012800093907438	0.20928	0.374927165601	0.38949	0.334838867188	0.15664	T	0.160996	0.50507	T	-0.564498	0.00238	T	-0.572607	0.15212	T	0.0931095369972305	0.11582	T	0.49655	0.15423	T	0.286598	0.51674	0.20106022	0.44068	0.286598	0.51674	0.20106022	0.44067	-5.413	0.41044	T	.	.	0.387	0.58837	A	.;.;.	.;.;.	1.855034	0.23566	16.07	0.99522749598536786	0.69346	0.00524	0.02436	N	AEFBI	0.063848	0.12364	N	-0.680622098261086	0.16575	0.8456621	-0.895101077511471	0.12210	0.6267108	0.0149226054994261	0.12654	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	2.83	-1.06	0.09491	-0.071000	0.11465	-1.692000	0.04905	0.445000	0.21165	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.6437:0.3563:0.0:0.0	8.339	0.31396	725	0.54935	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	5090.98	34	chr19	46160730	.	C	T	5090.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.76;DP=1074;ExcessHet=0.0000;FS=0.908;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.31;ReadPosRankSum=-3.880e-01;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1334	20	0	1	0
chr19	46347140	46347140	C	G	exonic	PPP5C	.	nonsynonymous SNV	PPP5C:NM_001204284:exon1:c.C44G:p.P15R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.099	B	0.003	B	0.796	U	1.000	D	0	N	3.56	T	-0.934	T	0.009	T	0.338	1.750	11.81	2.25	0.728	.	10.489	0.057	0.0246934212874	.	.	1.529e-05	0	0	0	0	0	0	8.996e-05	6.5e-06	1	154602	rs781518780	1.101e-05	1.094e-05	1.094e-05	1.108e-05	2.359e-05	6.52e-06	5.28e-06	5.77e-06	4.56e-06	0	0	0	0	0	0	1.083e-05	3.334e-05	2.359e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.058	0.37750	T	0.319	0.19188	T	0.026	0.19406	B	0.002	0.06944	B	0.795638	0.09363	U	0.866069	0.582391	0.81001	D	1.355	0.33814	L	3.56	0.04696	T	-0.65	0.18877	N	0.204	0.22614	-0.9343	0.43500	T	0.009	0.03315	T	10	0.1773321	0.32763	T	0.024693	0.47677	T	0.057	0.16321	0.278	0.23164	0.23798241625	0.23396	0.36878477754257155	0.36792	0.734854661864	0.62927	0.665435135365	0.62186	T	0.366627	0.73184	T	-0.250303	0.14059	T	-0.492034	0.23177	T	0.210142329335213	0.20961	T	0.556144	0.19298	T	0.07823419	0.17803	0.12434414	0.29972	0.07823419	0.17803	0.12434414	0.29971	-3.982	0.23533	T	.	.	0.071	0.03698	B	.	.	3.480694	0.48608	22.6	0.933825776721809	0.23133	0.87741	0.47384	D	AEFGBHCIJ	0.313501	0.41863	N	-0.633145689422323	0.17954	0.9283253	-0.489261716367701	0.22449	1.219351	0.999999999695259	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.3	2.25	0.27340	1.340000	0.33501	5.902000	0.50901	-0.177000	0.10537	0.997000	0.40164	1.000000	0.68203	0.712000	0.34516	0.0:0.7999:0.2001:0.0	10.489	0.43928	471	0.78036	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	667.98	33	chr19	46347140	.	C	G	667.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.647;DP=802;ExcessHet=0.0000;FS=0.859;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.15;ReadPosRankSum=0.310;SOR=0.582	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1161	20	0	1	0
chr19	46412517	46412517	G	T	exonic	CCDC8	.	nonsynonymous SNV	CCDC8:NM_032040:exon1:c.C294A:p.D98E,	3-M syndrome 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1327237	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.31	T	0.999	D	0.992	D	0.000	D	0.948	N	1.995	M	2.17	T	-1.095	T	0.068	T	0.316	3.939	20.1	2.8	1.203	1.957	7.261	0.059	.	.	0.00559105	0.0018	0	0	0.0027	0	0	0.0011	0.0120	0.0016688	258	154602	rs201941979	0.0008	0.0008	0.0005	0.0010	0.0105	0.0007	0.0007	0.0099	0.0097	0	8.945e-05	0	0.0031	0	0.0002	7.195e-06	0.0009	0.0105	0.0006	0.0006	0.0004	0.0009	0.0127	0.0005	0.0005	0.0102	0.0092	0	0	6.541e-05	0	0.0058	0	0	0	0.0005	0.0127	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.992	0.80445	D	0.000417	0.44736	D	0.000000	0.947751	0.26590	N	0.69	0.16971	N	2.17	0.19020	T	-0.61	0.18042	N	0.382	0.42345	-1.0953	0.04709	T	0.068	0.28047	T	10	0.006514758	0.00148	T	.	.	.	0.059	0.16972	0.266	0.21261	0.321951552304	0.31805	0.09031553929312675	0.08964	0.843357692643	0.68169	0.6851734519	0.65012	T	0.023709	0.18049	T	-0.459584	0.00989	T	-0.431156	0.29805	T	0.0903419400259183	0.11259	T	0.608539	0.22995	T	0.45420924	0.64308	0.26352015	0.52159	0.32195267	0.54804	0.2936363	0.55392	-3.596	0.17799	T	.	.	0.895	0.82428	P	.;.	.;.	4.227708	0.63999	24.6	0.99698115249184127	0.80453	0.70298	0.34533	D	AEFDBCI	0.258411	0.37696	N	0.363973736766343	0.59482	4.127901	0.278124653178453	0.54264	3.591972	0.999990114094746	0.74766	0.72623	0.87236	0	0.547309	0.14657	0	0.594344	0.31042	0	0.530356	0.10902	0	.	.	3.84	2.8	0.31881	1.530000	0.35613	5.508000	0.48790	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.1197:0.0:0.8803:0.0	7.261	0.25379	773	0.48803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2061.98	34	chr19	46412517	.	G	T	2061.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.45;DP=914;ExcessHet=0.0000;FS=2.719;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=-3.190e-01;SOR=0.510	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr19	46495292	46495292	C	T	exonic	PNMA8B	.	nonsynonymous SNV	PNMA8B:NM_020709:exon1:c.G174A:p.M58I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.0	B	0.0	B	.	.	1.000	N	0	N	3.0	T	-0.963	T	0.013	T	0.048	1.478	10.89	-3.59	-0.578	-0.301	4.869	0.012	0.00652259998315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.653e-06	4.802e-06	6.254e-06	3.078e-06	1.205e-05	1.67e-06	1.1e-06	9.8e-07	6.6e-07	0	0	0	0	0	0	4.191e-06	1.828e-05	1.205e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.748	0.04842	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	3.0	0.09167	T	.	.	.	0.055	0.02658	-0.9628	0.38645	T	0.013	0.04843	T	9	0.05109963	0.04941	T	0.006523	0.17186	T	.	.	0.362	0.36711	0.0138822411134	0.00435	0.2219468260147951	0.22109	.	.	0.277452111244	0.07140	T	0.008466	0.07774	T	-0.411673	0.01938	T	-0.829116	0.01278	T	0.0368789114857155	0.03135	T	0.328467	0.06836	T	0.08545733	0.19825	0.09974181	0.23825	0.08545733	0.19824	0.09974181	0.23825	-4.275	0.27825	T	.	.	0.272	0.50609	B	.	.	0.678525	0.10471	7.187	0.88511318923139526	0.18035	0.01357	0.04648	N	AEFDBI	0.038881	0.05567	N	-1.38144742577584	0.02812	0.124715	-1.46393517371938	0.02646	0.122084	0.853529847448134	0.25089	0.65757	0.49021	0	0.563428	0.19063	0	0.619478	0.44681	0	0.63947	0.58350	0	.	.	2.76	-3.59	0.04290	-0.169000	0.09900	-0.004000	0.13159	-0.230000	0.07744	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2821:0.4619:0.256	4.869	0.12981	866	0.32446	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3017.98	36	chr19	46495292	.	C	T	3017.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.640e-01;DP=1016;ExcessHet=0.0000;FS=2.195;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=-4.370e-01;SOR=0.565	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1143	20	0	1	0
chr19	46600922	46600922	T	A	exonic	PPP5D1	.	nonsynonymous SNV	PPP5D1:NM_001205281:exon1:c.A48T:p.Q16H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.98	D	0.965	D	.	.	0.816	N	0	N	1.86	T	-1.034	T	0.073	T	0.624	4.073	20.9	5.06	2.128	3.800	11.112	0.183	0.014404533207	.	.	0.0002	0	0	0	0	0.0006	0	0	3.84e-05	1	26028	rs759861056	2.891e-06	2.736e-06	0	5.858e-06	0.0005	6.8e-07	4.6e-07	0.0001	7.638e-05	0	0	0	0	0	0.0005	0	0	1.262e-05	6.573e-06	6.568e-06	0	1.346e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.034	0.44029	D	0.0	0.92824	D	0.98	0.59353	D	0.965	0.71173	D	.	.	.	.	0.815695	0.28946	N	0	0.06538	N	1.86	0.24285	T	-0.83	0.22727	N	0.503	0.53532	-1.0338	0.19236	T	0.073	0.29515	T	9	0.3294266	0.50196	T	0.014405	0.34508	T	0.183	0.45592	0.475	0.55182	0.275215494804	0.27121	0.17371452144291907	0.17291	0.350943177444	0.36936	.	.	.	0.025434	0.19020	T	-0.0567332	0.43417	T	-0.191491	0.55450	T	0.526402413845062	0.33601	D	0.310869	0.06046	T	0.23070812	0.45830	0.3687717	0.62160	0.23070812	0.45830	0.3687717	0.62160	.	.	.	.	.	0.281	0.51402	B	.	.	2.988504	0.39887	21.1	0.9955165955311257	0.71211	0.96731	0.70638	D	ALL	0.714008	0.66662	D	0.395288288055013	0.61165	4.314127	0.445585025326037	0.64433	4.69849	1.0	0.98316	0.034631	0.00232	3	0.374146	0.05931	1	0.179345	0.04352	3	0.273489	0.05413	2	.	.	5.06	5.06	0.67838	2.238000	0.42719	7.553000	0.60314	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	11.112	0.47463	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1521.98	34	chr19	46600922	.	T	A	1521.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.263;DP=839;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.28;ReadPosRankSum=-2.430e-01;SOR=0.644	GT:AD:DP:GQ:PL	0/1:83,65:148:99:1536,0,2029	20	0	1	0
chr19	46755970	46755970	A	T	exonic	FKRP	.	nonsynonymous SNV	FKRP:NM_001039885:exon4:c.A520T:p.S174C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, Autosomal recessive	.	0	1517	5	0	0	5	0.00164528	.	.	102004	Cardiovascular_phenotype|Walker-Warburg_congenital_muscular_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I|Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|not_provided|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1|Muscular_dystrophy-dystroglycanopathy_type_B5|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5	MedGen:CN230736|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155,Orphanet:34515|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670,Orphanet:588,Orphanet:899|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612,Orphanet:52428|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153,Orphanet:588,Orphanet:899	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	0.000	D	0.902	D	0.345	N	-6.08	D	0.786	D	0.895	D	0.701	2.034	12.76	3.52	0.745	3.374	8.011	0.614	.	0.0006	0.00579073	0.0118	0.0027	0	0	0	0.0058	0	0.0161	0.002044	316	154602	rs200990647	0.0023	0.0023	0.0020	0.0027	0.0144	0.0022	0.0022	0.0138	0.0135	0.0002	0.0006	0.0010	0.0011	0.0002	0.0007	0.0017	0.0026	0.0144	0.0015	0.0015	0.0013	0.0017	0.0190	0.0014	0.0013	0.0159	0.0147	0.0004	0	0.0008	0.0012	0.0021	0.0002	0	0.0014	0	0.0190	0.02	0.49613	D	0.005	0.92824	D	0.0	0.02946	B	0.001	0.04355	B	0.000094	0.51296	D	0.170964	0.902163	0.36198	D	0.345	0.11182	N	-6.08	0.99517	D	-2.6	0.55983	D	0.491	0.74280	0.786	0.94236	D	0.895	0.96512	D	10	0.009832382	0.00221	T	.	.	.	0.614	0.84932	.	.	0.839388427273	0.83785	0.7137535700374018	0.71318	1.29733811053	0.82933	0.929733991623	0.98973	D	0.527196	0.83572	D	-0.0854319	0.38827	T	0.116183	0.77981	D	0.0284877121389715	0.01759	T	0.807619	0.45757	T	0.49096623	0.66561	0.2004119	0.43971	0.559256	0.70470	0.28949234	0.54969	-6.403	0.49533	T	0.446524041138075	0.53109	0.675	0.72091	P	.;.;.	.;.;.	3.434349	0.47750	22.5	0.98427601384636587	0.41354	0.88752	0.48831	D	AEFDBI	0.400106	0.47512	N	-0.434184271767077	0.24279	1.309852	-0.308591873975597	0.27819	1.54648	0.998100821236895	0.36433	0.700653	0.57754	0	0.694456	0.67091	0	0.717052	0.78885	0	0.669	0.65921	0	.	.	4.55	3.52	0.39415	1.737000	0.37821	8.870000	0.78330	0.658000	0.54486	0.962000	0.33725	1.000000	0.68203	0.617000	0.31819	0.6732:0.0:0.0:0.3268	8.011	0.29516	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	3075.11	33	chr19	46755970	.	A	T	3075.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.372;DP=1067;ExcessHet=0.1072;FS=1.917;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.08;ReadPosRankSum=1.26;SOR=0.829	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1230	19	0	2	0
chr19	46782545	46782545	G	C	exonic	SLC1A5	.	nonsynonymous SNV	SLC1A5:NM_001145145:exon3:c.C56G:p.P19R	.	.	427	1092	3	0	0	3	0.00137174	.	.	3214267	SLC1A5-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.051	B	0.114	B	.	.	1.000	D	1.485	L	0.58	T	-0.930	T	0.159	T	0.637	2.385	13.93	2.6	0.536	7.426	8.546	0.255	0.0768672815685	0.0022	0.000998403	0.0020	0.0006	0.0010	0	0.0002	0.0027	0.0022	0.0029	0.0021022	325	154602	rs140908383	0.0027	0.0027	0.0027	0.0027	0.0031	0.0026	0.0026	0.0031	0.0030	0.0002	0.0006	3.826e-05	0	0.0005	0.0026	0.0031	0.0019	0.0031	0.0018	0.0019	0.0019	0.0018	0.0031	0.0017	0.0016	0.0027	0.0026	0.0007	0	0.0015	0	0.0002	0.0003	0	0.0031	0.0024	0.0023	0.05	0.39575	D	0.057	0.46406	T	0.031	0.20130	B	0.114	0.31755	B	.	.	.	.	0.700633	0.81001	D	2.135	0.59519	M	0.58	0.71543	T	-5.12	0.86073	D	0.719	0.87157	-0.9299	0.44153	T	0.159	0.49296	T	9	0.050892085	0.04889	T	0.076867	0.72635	D	0.255	0.56562	.	.	0.866366014938	0.86506	0.8064361160471855	0.80598	0.685980076296	0.60309	0.549354553223	0.45767	T	0.395609	0.75445	T	-0.234837	0.16013	T	-0.107769	0.62789	T	0.133869610420539	0.15735	T	0.777022	0.40965	T	0.18600923	0.39990	0.23905762	0.49245	0.18600923	0.39989	0.23905762	0.49244	-4.254	0.40425	T	.	.	0.129	0.56933	B	.;.;.	.;.;.	2.537396	0.32816	19.16	0.95137448044191542	0.26256	0.98593	0.84474	D	AEFBHCI	0.892414	0.82932	D	-0.369517364913626	0.26561	1.450529	-0.3600786081502	0.26198	1.445537	0.999999989571933	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.696144	0.63334	0	0.714379	0.83352	0	.	.	4.77	2.6	0.30173	7.584000	0.81862	4.807000	0.45013	0.647000	0.52776	1.000000	0.71638	1.000000	0.68203	0.001000	0.02609	0.0827:0.0:0.7642:0.1531	8.546	0.32580	917	0.20147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	788.98	66	chr19	46782545	.	G	C	788.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.950e-01;DP=803;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=0.940;SOR=0.742	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr19	47143522	47143522	G	A	exonic	SAE1	.	nonsynonymous SNV	SAE1:NM_001145713:exon2:c.G127A:p.G43S	.	.	427	1085	10	0	0	10	0.00458716	.	.	2818468	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	D	1.000	D	2.33	M	-4.26	D	1.086	D	0.945	D	0.991	5.736	36	5.68	2.691	9.141	18.562	0.957	0.218217212353	.	0.00139776	0.0011	0	0.0003	0.0001	0	7.492e-05	0.0055	0.0071	0.0009314	144	154602	rs199801330	0.0006	0.0006	0.0003	0.0008	0.0078	0.0005	0.0005	0.0073	0.0071	5.974e-05	8.944e-05	0	5.038e-05	0	0.0014	7.374e-05	0.0008	0.0078	0.0002	0.0002	0.0001	0.0003	0.0069	0.0002	0.0002	0.0050	0.0044	2.41e-05	0	0	0	0.0002	0	0	1.47e-05	0	0.0069	0.009	0.91255	D	0.056	0.92824	T	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.54	0.74080	M	-4.26	0.97078	D	-5.8	0.88148	D	0.979	0.99337	1.086	0.99097	D	0.945	0.98184	D	10	0.044219077	0.03355	T	0.218217	0.87647	D	0.957	0.99284	0.82	0.93328	0.973409713705	0.97312	0.7918974565808234	0.79141	0.719350977625	0.62131	0.856860399246	0.90645	D	0.374441	0.75527	T	0.226452	0.76387	D	0.557634	0.95802	D	0.122462739664876	0.14668	T	0.886711	0.66351	D	0.9529124	0.96562	0.929928	0.97090	0.9529124	0.96562	0.929928	0.97090	-7.447	0.57961	T	.	.	0.704	0.74752	P	.;.;.;.;.	.;.;.;.;.	5.404553	0.90492	31	0.9989377473112403	0.96742	0.99742	0.99125	D	AEFDBIJ	0.948652	0.96050	D	0.921039765276372	0.92751	11.60731	0.902131212895817	0.95664	13.84331	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	9.456000	0.96789	9.456000	0.80855	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.562	0.91058	882	0.29131	.;THIF-type NAD/FAD binding fold;THIF-type NAD/FAD binding fold;THIF-type NAD/FAD binding fold;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1024.98	36	chr19	47143522	.	G	A	1024.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.60;DP=800;ExcessHet=0.0000;FS=8.202;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.25;ReadPosRankSum=-3.106e+00;SOR=0.264	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1155	20	0	1	0
chr19	47319943	47319943	G	T	exonic	C5AR1	.	nonsynonymous SNV	C5AR1:NM_001736:exon2:c.G166T:p.A56S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.322	B	0.156	B	0.000	U	0.990	N	1.1	L	1.24	T	-1.053	T	0.064	T	0.742	2.982	15.94	2.51	0.386	1.018	8.253	0.176	0.00777939764802	.	0.000399361	0.0001	9.61e-05	8.637e-05	0	0	1.498e-05	0	0.0009	0.0001294	20	154602	rs202146387	7.935e-05	7.935e-05	7.895e-05	7.975e-05	0.0004	6.733e-05	6.267e-05	0.0003	0.0002	2.987e-05	2.236e-05	0	0	0	0.0002	6.745e-05	8.279e-05	0.0004	5.907e-05	5.905e-05	3.853e-05	8.053e-05	0.0006	3.074e-05	2.208e-05	0.0002	8.989e-05	7.213e-05	0	0	0	0	0	0	4.409e-05	0	0.0006	0.082	0.33254	T	0.157	0.31730	T	0.322	0.33059	B	0.156	0.34472	B	0.000173	0.48594	U	0.136944	0.98979	0.24254	N	1.45	0.36711	L	1.24	0.36691	T	-1.28	0.32185	N	0.069	0.04188	-1.0526	0.13682	T	0.064	0.26597	T	10	0.025001884	0.00708	T	0.007779	0.20642	T	0.176	0.44373	.	.	0.440810947182	0.43702	0.2599368686204478	0.25906	0.160703966068	0.18139	0.26132696867	0.05050	T	0.195769	0.55195	T	-0.244521	0.14778	T	-0.246283	0.50182	T	0.0451674044332445	0.04632	T	0.449255	0.12651	T	0.21735682	0.44217	0.13356599	0.32025	0.21735682	0.44217	0.13356599	0.32025	-5.001	0.36851	T	.	.	0.170	0.37312	B	.	.	1.366539	0.17758	13.35	0.9941916716097019	0.63694	0.20694	0.21134	N	AEFDBI	0.189543	0.31679	N	-0.508362375940406	0.21809	1.160109	-0.490295303506936	0.22420	1.217628	0.69981306420784	0.22685	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	4.67	2.51	0.29435	1.093000	0.30550	-0.521000	0.08690	0.606000	0.46413	0.001000	0.13787	0.000000	0.08366	0.838000	0.39538	0.0848:0.0:0.7589:0.1562	8.253	0.30897	846	0.36215	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2695.98	110	chr19	47319943	.	G	T	2695.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.741e+00;DP=2750;ExcessHet=0.0000;FS=2.429;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=-6.640e-01;SOR=0.846	GT:AD:DP:GQ:PL	0/0:151,0:151:99:0,120,1800	20	0	1	0
chr19	47362499	47362499	G	T	exonic	DHX34	.	nonsynonymous SNV	DHX34:NM_014681:exon6:c.G1399T:p.D467Y,	.	.	422	1077	23	0	0	23	0.010565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.97	H	4.09	T	-0.894	T	0.072	T	0.975	4.857	27.7	5.6	2.637	6.343	18.362	0.482	.	0.0002	0.00119808	0.0018	0.0005	0.0006	0	0	0.0006	0.0072	0.0105	0.0011255	174	154602	rs145555932	0.0007	0.0007	0.0005	0.0009	0.0077	0.0007	0.0007	0.0072	0.0070	0.0002	0.0002	0.0011	0.0001	1.883e-05	0.0044	0.0002	0.0008	0.0077	0.0005	0.0005	0.0003	0.0007	0.0071	0.0004	0.0004	0.0052	0.0045	0.0003	0	0.0001	0.0012	0.0002	0	0	0.0003	0.0005	0.0071	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.000000	1	0.81001	D	3.635	0.94052	H	4.09	0.02973	T	-7.93	0.96269	D	0.919	0.92200	-0.8940	0.48577	T	0.072	0.29163	T	10	0.031396925	0.01274	T	.	.	.	0.482	0.77206	.	.	0.655384900829	0.65251	0.8647843333440839	0.86442	0.828181939262	0.67508	0.689908564091	0.65693	T	0.745668	0.92991	D	-0.0664156	0.41897	T	0.13709	0.79355	D	0.207733088600426	0.20834	T	0.944206	0.78893	D	0.9354856	0.94789	0.86860865	0.92769	0.9354856	0.94789	0.86860865	0.92770	-10.29	0.75630	D	.	.	0.427	0.61041	A	.	.	5.427909	0.90780	31	0.99541459357018669	0.70523	0.98123	0.79794	D	AEFBI	0.726663	0.67525	D	0.992526845165814	0.95510	13.68906	0.904266420705978	0.95755	13.93583	0.999999999999339	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.6	5.6	0.84997	7.800000	0.84516	11.510000	0.92999	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.656000	0.32857	0.0:0.0:1.0:0.0	18.362	0.90321	753	0.51500	Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1480.11	39	chr19	47362499	.	G	T	1480.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.83;DP=782;ExcessHet=0.1072;FS=1.632;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.58;ReadPosRankSum=1.64;SOR=0.525	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1052	19	0	2	0
chr19	47539772	47539772	G	A	exonic	ZNF541	.	nonsynonymous SNV	ZNF541:NM_001277075:exon8:c.C2729T:p.A910V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.994	D	0.886	P	0.214	N	1.000	N	0.805	L	1.4	T	-1.024	T	0.098	T	0.389	2.759	15.19	4.79	2.471	3.806	13.173	0.070	0.0166385849052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.034	0.52727	D	0.989	0.62824	D	0.773	0.56974	P	0.213972	0.16298	N	0.558247	1	0.08975	N	1.845	0.48678	L	1.4	0.33630	T	-1.1	0.28497	N	0.28	0.31702	-1.0243	0.22311	T	0.098	0.36625	T	10	0.17628348	0.32604	T	0.016639	0.37992	T	0.154	0.40340	0.086	0.00867	0.139678290688	0.13603	0.08297575694763148	0.08232	.	.	0.393351495266	0.24141	T	0.001339	0.00808	T	-0.126284	0.32100	T	-0.419174	0.31169	T	0.786299228668213	0.45449	D	0.548745	0.18852	T	0.11070669	0.26165	0.14429817	0.34263	0.11070669	0.26165	0.14429817	0.34262	-3.061	0.10854	T	.	.	0.114	0.23148	B	.;.	.;.	1.621345	0.20707	14.87	0.99022814253033598	0.50613	0.66895	0.33238	D	AEFDBI	0.182410	0.30974	N	-0.114591886147459	0.36758	2.12898	-0.126374206824787	0.34331	1.973563	0.99678668524881	0.35006	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	4.79	4.79	0.60909	4.206000	0.58271	2.282000	0.31903	0.658000	0.54486	0.439000	0.26479	0.940000	0.28757	0.052000	0.15357	0.0:0.0:1.0:0.0	13.173	0.59031	856	0.34373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1026.98	40	chr19	47539772	.	G	A	1026.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.808;DP=797;ExcessHet=0.0000;FS=1.800;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=0.242;SOR=0.966	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr19	47680071	47680071	C	T	exonic	BICRA	.	nonsynonymous SNV	BICRA:NM_015711:exon6:c.C901T:p.L301F,	.	.	.	.	.	.	.	.	.	.	.	2818486	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.08	T	0.976	D	0.853	P	.	.	0.992	D	1.59	L	0.89	T	-0.861	T	0.165	T	0.463	1.316	10.31	3.17	2.186	2.698	11.538	0.109	0.116390165964	.	.	0.0009	0	0.0021	0	0	0	0	0.0026	0.0001682	26	154602	rs748949915	0.0001	0.0001	5.063e-05	0.0002	0.0018	9.435e-05	8.949e-05	0.0016	0.0015	0	0	0	0	0	0.0002	0	0.0001	0.0018	6.566e-05	6.562e-05	3.855e-05	9.4e-05	0.0021	3.514e-05	2.614e-05	0.0011	0.0009	0	0	0	0	0	0	0	0	0	0.0021	0.073	0.34800	T	0.052	0.47581	T	0.976	0.58310	D	0.853	0.60815	P	.	.	.	.	0.991557	0.41416	D	.	.	.	0.89	0.45636	T	-2.0	0.46146	N	0.417	0.45709	-0.8607	0.51213	T	0.165	0.50225	T	9	0.023692131	0.00628	T	0.11639	0.79586	D	0.109	0.30843	0.237	0.16760	0.161926535498	0.15789	0.5791745933888623	0.57846	1.25605872944	0.81899	0.897307217121	0.96136	D	0.095121	0.39557	T	-0.399465	0.02334	T	-0.376659	0.36114	T	0.160743685876379	0.17926	T	0.769823	0.39947	T	0.09856365	0.23249	0.13388865	0.32095	0.09856365	0.23248	0.13388865	0.32094	-5.414	0.41054	T	.	.	0.293	0.55348	B	.;.	.;.	3.161126	0.42834	21.6	0.97184619808767503	0.32736	0.40348	0.26417	N	AEFDBI	0.089358	0.18113	N	0.408941531086339	0.61914	4.399035	0.368455953356687	0.59625	4.142172	0.408726502297523	0.20193	0.718356	0.82227	0	0.577304	0.33150	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	4.25	3.17	0.35510	1.925000	0.39705	3.883000	0.40251	0.547000	0.25779	0.731000	0.28933	0.999000	0.35428	0.853000	0.40368	0.0:0.9066:0.0:0.0934	11.538	0.49901	686	0.59327	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1297.98	37	chr19	47680071	.	C	T	1297.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.610e-01;DP=1062;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.73;ReadPosRankSum=-4.290e-01;SOR=0.699	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	20	0	1	0
chr19	47695060	47695060	C	T	exonic	BICRA	.	nonsynonymous SNV	BICRA:NM_015711:exon9:c.C3056T:p.P1019L,	.	.	424	1087	10	1	0	12	0.00548948	.	.	2818506	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.015	B	0.004	B	.	.	0.984	N	0.55	N	1.51	T	-1.054	T	0.042	T	0.206	1.436	10.74	2.36	1.633	0.372	3.742	0.025	0.253149797867	.	0.000399361	0.0023	0	0	0	0	0.0004	0	0.0032	0.0002587	40	154602	rs566879134	0.0004	0.0004	0.0004	0.0005	0.0019	0.0004	0.0004	0.0013	0.0012	0.0002	0.0004	0.0004	2.809e-05	2.901e-05	0.0019	0.0004	0.0006	0.0016	0.0005	0.0005	0.0004	0.0005	0.0012	0.0004	0.0003	0.0006	0.0005	0.0004	0	0.0010	0.0009	0.0002	0	0	0.0004	0.0009	0.0012	0.004	0.65419	D	0.01	0.65728	D	0.015	0.17086	B	0.004	0.10090	B	.	.	.	.	0.983767	0.24857	N	.	.	.	1.51	0.30937	T	-1.2	0.30555	N	0.271	0.33469	-1.0544	0.13198	T	0.042	0.17952	T	9	0.012189627	0.00263	T	0.25315	0.89200	D	0.025	0.05312	0.245	0.17984	0.043077524339	0.03247	0.3517732396465989	0.35091	0.227543361675	0.25305	0.709222197533	0.68480	T	0.010615	0.09570	T	-0.54006	0.00335	T	-0.56755	0.15675	T	0.0198505725061431	0.00687	T	0.691431	0.30091	T	0.05061061	0.09171	0.053140286	0.08894	0.05061061	0.09171	0.053140286	0.08893	-5.312	0.40062	T	.	.	0.084	0.12181	B	.;.	.;.	2.628707	0.34181	19.55	0.98929420217650343	0.48713	0.14624	0.18501	N	AEFBI	0.025813	0.01832	N	-0.615495391132795	0.18479	0.9596747	-0.554452174077509	0.20687	1.115737	0.0737832675596922	0.15645	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	3.43	2.36	0.28258	0.183000	0.16729	4.263000	0.42814	0.450000	0.21304	0.030000	0.20431	0.957000	0.29195	0.013000	0.09966	0.2443:0.6208:0.0:0.1349	3.742	0.08061	695	0.58372	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	730.11	33	chr19	47695060	.	C	T	730.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.51;DP=667;ExcessHet=0.1072;FS=1.065;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=-3.600e-01;SOR=0.894	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	19	0	2	0
chr19	47701799	47701799	C	T	exonic	BICRA	.	nonsynonymous SNV	BICRA:NM_015711:exon15:c.C4067T:p.T1356M,	.	YES	416	1101	5	0	0	5	0.00226552	.	.	3294498	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.748	P	.	.	1.000	N	0.695	N	1.31	T	-1.050	T	0.085	T	0.18	0.748	7.964	1.06	0.429	1.176	6.423	0.064	0.146226265152	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1477384904	1.442e-06	2.052e-06	1.423e-06	1.462e-06	0.0002	2.4e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.289e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.005	0.72224	D	0.997	0.70673	D	0.748	0.55971	P	.	.	.	.	1	0.08975	N	.	.	.	1.31	0.35405	T	-0.91	0.24460	N	0.17	0.19459	-1.0500	0.14397	T	0.085	0.33014	T	9	0.15845913	0.29797	T	0.146226	0.82836	D	0.064	0.18567	0.186	0.09517	0.043077524339	0.03247	0.23454854817078935	0.23369	1.67692670772	0.89933	0.904400348663	0.96913	D	0.017264	0.14114	T	-0.212285	0.19059	T	-0.542709	0.18031	T	0.627328965768835	0.37508	D	0.638236	0.25562	T	0.043644823	0.06838	0.045815594	0.06249	0.043644823	0.06837	0.045815594	0.06249	-5.492	0.41793	T	.	.	0.128	0.27283	B	.;.	.;.	3.768969	0.54128	23.4	0.987138287173006	0.45098	0.01694	0.05394	N	AEFDBI	0.026803	0.02075	N	-0.408917918746889	0.25157	1.363502	-0.592398720921626	0.19690	1.057579	0.312745896474576	0.19304	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.528226	0.09195	0	.	.	3.47	1.06	0.19341	0.096000	0.14986	5.031000	0.46827	0.443000	0.21123	0.000000	0.06391	0.637000	0.25895	0.560000	0.30412	0.0:0.7006:0.1864:0.1129	6.423	0.20955	711	0.56613	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	772.98	34	chr19	47701799	.	C	T	772.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.120e-01;DP=760;ExcessHet=0.0000;FS=4.444;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.31;ReadPosRankSum=-1.011e+00;SOR=0.570	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1226	20	0	1	0
chr19	47751020	47751020	C	T	exonic	NOP53	.	nonsynonymous SNV	NOP53:NM_015710:exon4:c.C511T:p.R171W,	.	.	422	1095	5	0	0	5	0.0022779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.169	B	0.046	B	0.000	D	1.000	D	2.475	M	0.84	T	-0.883	T	0.133	T	0.621	2.321	13.72	-1.74	0.029	1.482	10.383	0.235	0.108551957491	.	.	0.0003	0	0	0	0	3.231e-05	0	0.0014	0.00011	17	154602	rs763608461	0.0001	0.0001	4.254e-05	0.0002	0.0014	8.867e-05	8.349e-05	0.0012	0.0011	0	4.761e-05	0	0	0	0.0005	1.537e-05	0.0002	0.0014	1.971e-05	1.97e-05	1.284e-05	2.69e-05	0.0004	5.24e-06	2.45e-06	7.285e-05	3.027e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.002	0.72154	D	0.001	0.83351	D	0.169	0.28678	B	0.031	0.21939	B	0.000370	0.45194	D	0.085120	0.999782	0.49076	D	.	.	.	0.84	0.47477	T	-3.28	0.65627	D	0.595	0.61426	-0.8828	0.49537	T	0.133	0.44484	T	10	0.14286903	0.27132	T	0.108552	0.78514	D	0.235	0.53788	0.682	0.81982	0.625243557465	0.62219	0.5159649392767612	0.51519	0.250448072217	0.27614	0.629627466202	0.57092	T	0.272636	0.64503	T	-0.297797	0.08869	T	-0.23592	0.51196	T	0.311497844038802	0.25476	T	0.79722	0.44094	T	0.20506053	0.42636	0.21713676	0.46368	0.20506053	0.42635	0.21713676	0.46367	-7.199	0.55474	T	.	.	0.132	0.30660	B	.;.	.;.	3.482664	0.48638	22.6	0.99410299020834203	0.63263	0.76950	0.37783	D	AEFDBCI	0.749595	0.69098	D	-0.296943768371378	0.29266	1.621462	-0.305520427179599	0.27920	1.552768	0.0147684066748272	0.12635	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.86	-1.74	0.07622	1.738000	0.37831	0.360000	0.17566	0.599000	0.40250	1.000000	0.71638	0.968000	0.29604	0.667000	0.33166	0.6839:0.3161:0.0:0.0	10.383	0.43304	872	0.31118	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	522.98	34	chr19	47751020	.	C	T	522.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=765;ExcessHet=0.0000;FS=6.153;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.90;ReadPosRankSum=-1.768e+00;SOR=0.383	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1164	20	0	1	0
chr19	47754612	47754612	C	T	exonic	NOP53	.	nonsynonymous SNV	NOP53:NM_015710:exon7:c.C851T:p.T284M,	.	.	442	1024	49	7	0	63	0.0298437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.927	P	0.498	P	0.168	N	1.000	N	1.04	L	1.1	T	-1.017	T	0.073	T	0.093	1.993	12.62	1.65	0.910	0.373	4.672	0.041	.	0.0048	0.00279553	0.0136	0.0016	0.0076	0	0	0.0152	0.0192	0.0152	0.0034217	529	154602	rs200463741	0.0066	0.0065	0.0063	0.0069	0.0262	0.0065	0.0064	0.0222	0.0207	0.0011	0.0041	0.0135	2.791e-05	0.0013	0.0262	0.0065	0.0078	0.0135	0.0047	0.0048	0.0048	0.0046	0.0126	0.0044	0.0043	0.0101	0.0092	0.0007	0	0.0045	0.0121	0.0002	0.0008	0.0238	0.0071	0.0090	0.0126	0.108	0.29420	T	0.025	0.56192	D	0.927	0.51527	P	0.498	0.47596	P	0.168490	0.03092	N	1.781030	1	0.08975	N	.	.	.	1.1	0.39050	T	-0.21	0.10308	N	0.163	0.17140	-1.0168	0.24755	T	0.073	0.29675	T	10	0.009180903	0.00207	T	.	.	.	0.041	0.10877	.	.	0.341696514166	0.33777	0.12463098791776257	0.12389	0.469969455627	0.46289	0.332075119019	0.15247	T	0.025983	0.19322	T	-0.613896	0.00120	T	-0.643564	0.09412	T	0.0283586252326964	0.01741	T	0.693531	0.30321	T	0.013671488	0.00066	0.027146567	0.00847	0.013671488	0.00066	0.027146567	0.00847	-5.807	0.44635	T	.	.	0.082	0.08657	B	.	.	1.784252	0.22686	15.72	0.99572906523437688	0.72501	0.08317	0.14262	N	AEFDBHCI	0.136783	0.25756	N	-0.494089786967939	0.22273	1.188187	-0.652737263232716	0.18147	0.9681613	0.0370203101049433	0.14274	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	3.87	1.65	0.23015	-0.020000	0.12466	-1.828000	0.04652	-0.376000	0.05418	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.6466:0.2284:0.125	4.672	0.12077	889	0.27310	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	470.98	39	chr19	47754612	.	C	T	470.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.971;DP=734;ExcessHet=0.0000;FS=4.531;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=-4.550e-01;SOR=0.799	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1178	20	0	1	0
chr19	47780906	47780906	C	T	exonic	SELENOW	.	unknown	UNKNOWN,	.	.	421	1091	9	1	0	11	0.00501596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.0	B	0.0	B	0.919	N	1.000	N	.	.	0.94	T	-1.038	T	0.001	T	0.172	1.331	10.37	-3.89	-0.647	-0.116	11.183	0.037	.	0.0002	0.0253594	0.0100	0.0006	0.0007	0.1208	0.0019	0.0010	0.0060	0.0031	0.0090296	1396	154602	rs80333860	0.0042	0.0042	0.0043	0.0041	0.1184	0.0041	0.0041	0.1156	0.1144	0.0004	0.0004	0.0015	0.1184	0.0018	0.0021	0.0005	0.0072	0.0036	0.0048	0.0049	0.0042	0.0055	0.1215	0.0045	0.0044	0.1135	0.1104	0.0004	0	0.0009	0.0012	0.1215	0.0008	0	0.0006	0.0052	0.0050	0.054	0.38633	T	0.059	0.46182	T	0.0	0.02946	B	0.0	0.01387	B	0.918827	0.08501	N	0.961651	0.999999	0.08975	N	.	.	.	0.94	0.43672	T	-0.18	0.09796	N	0.278	0.32591	-1.0375	0.18078	T	0.001	0.00438	T	9	0.0016022921	0.00019	T	.	.	.	0.037	0.09474	.	.	0.134241683229	0.13084	.	.	0.0979953761928	0.11061	0.443825602531	0.31099	T	0.015291	0.14613	T	-0.650431	0.00072	T	-0.599954	0.12816	T	0.0146846796753103	0.00305	T	0.178882	0.01767	T	0.04818381	0.08357	0.05038276	0.07897	0.04818381	0.08356	0.05038276	0.07896	.	.	.	.	.	0.056	0.01367	B	.;.;.;.;.	.;.;.;.;.	1.235350	0.16305	12.45	0.95245460720698705	0.26495	0.03834	0.09181	N	AEFDBCI	0.175896	0.30309	N	-1.07627306900191	0.07082	0.3279762	-1.13093928832153	0.07115	0.344888	0.999903079962271	0.45458	0.744818	0.98587	0	0.732433	0.95613	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	4.27	-3.89	0.03916	-0.055000	0.11763	-0.328000	0.09912	-1.689000	0.00774	0.269000	0.25036	0.000000	0.08366	0.031000	0.13245	0.0:0.7264:0.0:0.2736	11.183	0.47869	906	0.23090	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	5976.68	139	chr19	47780906	.	C	T	5976.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.444;DP=1236;ExcessHet=0.3300;FS=3.213;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=-4.330e-01;SOR=0.576	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	3	0
chr19	47781161	47781161	G	A	exonic	SELENOW	.	unknown	UNKNOWN,	.	.	421	1097	3	1	0	5	0.00227376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0057	0.00199681	0.0038	0.0004	0.0045	0	0.0041	0.0054	0.0067	0.0005	0.0039844	616	154602	rs191827128	0.0062	0.0062	0.0063	0.0061	0.0072	0.0061	0.0060	0.0071	0.0070	0.0010	0.0043	0.0054	0	0.0029	0.0055	0.0072	0.0061	0.0007	0.0046	0.0046	0.0046	0.0046	0.0067	0.0043	0.0042	0.0062	0.0060	0.0015	0.0252	0.0053	0.0058	0	0.0030	0	0.0067	0.0085	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2954.98	45	chr19	47781161	.	G	A	2954.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.88;DP=985;ExcessHet=0.0000;FS=2.983;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.25;ReadPosRankSum=1.44;SOR=0.892	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr19	47801819	47801819	C	T	exonic	TPRX1	.	nonsynonymous SNV	TPRX1:NM_198479:exon2:c.G1192A:p.V398M,	.	.	150	1353	17	2	0	21	0.00770077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.982	D	0.651	P	.	.	1.000	N	0	N	-2.13	D	-0.196	T	0.606	D	0.052	1.569	11.20	1.17	0.988	0.305	5.719	0.232	.	7.7e-05	0.00199681	0.0013	0	0.0003	0.0001	0	0.0002	0	0.0085	0.0011319	175	154602	rs200596763	0.0006	0.0006	0.0005	0.0008	0.0080	0.0006	0.0006	0.0075	0.0073	2.987e-05	0.0002	0.0014	0	0	0.0035	0.0001	0.0008	0.0080	0.0004	0.0004	0.0002	0.0005	0.0077	0.0003	0.0003	0.0057	0.0050	0	0.0011	0.0003	0.0012	0	0	0.0068	0.0001	0.0005	0.0077	0.0	0.91255	D	0.0	0.92824	D	0.982	0.60036	D	0.651	0.52497	P	.	.	.	.	1	0.08975	N	0.55	0.14455	N	-2.13	0.93787	D	-0.73	0.22944	N	0.152	0.27554	-0.1956	0.77785	T	0.606	0.86026	D	9	0.0067352355	0.00153	T	.	.	.	0.232	0.53354	.	.	0.438383285633	0.43460	0.23392375633718906	0.23307	0.356072466805	0.37361	0.353152483702	0.18385	T	0.010224	0.09867	T	-0.409433	0.02005	T	-0.355631	0.38558	T	0.0942091338508487	0.11708	T	0.551245	0.19298	T	0.0836681	0.19330	0.09419711	0.22286	0.0836681	0.19329	0.09419711	0.22286	-2.25	0.04290	T	.	.	0.115	0.32445	B	.;.;.	.;.;.	1.534584	0.19684	14.39	0.9906700246732445	0.51621	0.01377	0.04694	N	AEFI	0.030052	0.02951	N	-0.598586907107626	0.18987	0.9902548	-0.800681159278093	0.14479	0.7567325	1.94653767318945E-4	0.05898	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.17	1.17	0.19998	0.305000	0.19006	-0.102000	0.11930	0.328000	0.19510	0.016000	0.19238	0.001000	0.17328	0.066000	0.16387	0.0:1.0:0.0:0.0	5.719	0.17248	912	0.21483	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1267.98	33	chr19	47801819	.	C	T	1267.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.845;DP=789;ExcessHet=0.0000;FS=4.343;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.92;ReadPosRankSum=0.703;SOR=1.189	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,100,1471	20	0	1	0
chr19	47802409	47802409	A	C	exonic	TPRX1	.	nonsynonymous SNV	TPRX1:NM_198479:exon2:c.T602G:p.V201G,	.	.	.	.	.	.	.	.	.	.	.	2735427	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.0	B	.	.	1.000	N	0	N	1.0	T	-1.032	T	0.038	T	0.132	-1.135	0.113	-0.802	-2.054	-4.286	.	0.016	0.00423765404556	.	.	5.469e-05	0	0	0	0	0.0001	0	0	7.68e-05	2	26028	rs200748871	4.503e-05	8.003e-05	4.636e-05	4.367e-05	0.0002	3.464e-05	3.126e-05	0.0001	7.873e-05	4.244e-05	3.507e-05	5.33e-05	0.0002	9.673e-05	0	2.575e-05	8.983e-05	0.0002	0.0004	0.0009	0.0003	0.0004	0.0016	0.0003	0.0002	0.0005	0.0003	0.0006	0	0.0003	0	0.0016	0	0	0.0002	0	0.0005	0.571	0.09430	T	0.388	0.22494	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	1.0	0.41392	T	0.96	0.04091	N	0.034	0.07949	-1.0325	0.19650	T	0.038	0.16246	T	8	0.017377675	0.00371	T	0.004238	0.10247	T	0.016	0.02506	.	.	0.0401082797425	0.02173	0.11663670961732966	0.11591	0.0772875809066	0.08693	0.31706649065	0.12976	T	0.009287	0.08464	T	-0.55859	0.00259	T	-0.732736	0.04205	T	0.00423360126837781	0.00045	T	0.0366963	0.00254	T	0.048329886	0.08406	0.12003961	0.28972	0.048329886	0.08406	0.12003961	0.28971	2.341	0.00038	T	.	.	0.055	0.00390	B	.;.;.	.;.;.	-0.794307	0.01118	0.051	0.20255595652771158	0.00720	0.00032	0.00291	N	AEFDBI	0.017397	0.00453	N	-2.10881371858474	0.00122	0.005240635	-2.18713165531064	0.00120	0.005257149	0.0455254057432558	0.14655	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	0.401	-0.802	0.10340	-2.510000	0.01035	-4.269000	0.02247	-3.175000	0.00114	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	912	0.21483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	897.98	43	chr19	47802409	.	A	C	897.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.94;DP=865;ExcessHet=0.0000;FS=2.499;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.11;ReadPosRankSum=0.462;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:52,0:52:99:.:.:0,112,1703	20	0	1	0
chr19	48121298	48121298	C	T	exonic	LIG1	.	nonsynonymous SNV	LIG1:NM_001289064:exon22:c.G2053A:p.V685M	DNA ligase I deficiency (3)	.	402	1073	44	3	0	50	0.0227687	.	.	705135	not_provided|LIG1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.22	T	0.999	D	0.914	D	0.000	D	1.000	D	1.125	L	0.51	T	-0.844	T	0.162	T	0.609	2.724	15.07	4.25	1.364	5.309	13.463	0.267	.	0.0045	0.00519169	0.0072	0.0013	0.0075	0.0004	0.0027	0.0099	0.0081	0.0049	0.0067658	1046	154602	rs146309259	0.0075	0.0075	0.0076	0.0074	0.0282	0.0074	0.0074	0.0247	0.0233	0.0010	0.0069	0.0111	0.0003	0.0031	0.0282	0.0082	0.0086	0.0043	0.0063	0.0063	0.0065	0.0060	0.0091	0.0059	0.0058	0.0085	0.0082	0.0018	0.0724	0.0059	0.0112	0.0006	0.0018	0.0374	0.0091	0.0066	0.0044	0.052	0.39097	T	0.044	0.76473	D	0.254	0.77913	B	0.034	0.64984	B	0.000049	0.53742	D	0.121396	0.999997	0.81001	D	0.21	0.09513	N	0.48	0.57729	T	-2.72	0.57920	D	0.544	0.57092	-0.8443	0.52359	T	0.162	0.49748	T	10	0.009888917	0.00222	T	.	.	.	0.267	0.58126	.	.	0.486707162081	0.48303	0.6877962717568229	0.68719	0.52801659779	0.50392	0.702495098114	0.67505	T	0.564074	0.85457	D	-0.329051	0.06184	T	-0.232462	0.51533	T	0.0459140205099629	0.04768	T	0.989301	0.96474	D	0.16692582	0.37058	0.09929493	0.23703	0.16692582	0.37057	0.09929493	0.23703	-10.761	0.85868	D	.	.	0.132	0.34754	B	.;.;.;.	.;.;.;.	3.443177	0.47909	22.5	0.99730661908994123	0.82761	0.93628	0.58739	D	AEFDBI	0.624604	0.60811	D	-0.16406644344385	0.34637	1.979539	-0.107215287758839	0.35099	2.026604	0.99999999158571	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.635259	0.50027	0	.	.	5.29	4.25	0.49658	5.365000	0.65866	1.025000	0.23435	-0.218000	0.08083	1.000000	0.71638	0.467000	0.25033	0.218000	0.22407	0.1579:0.8421:0.0:0.0	13.463	0.60692	846	0.36215	DNA ligase, ATP-dependent, central;DNA ligase, ATP-dependent, central;.;.	.	.	.	.	rs146309259	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	618.98	35	chr19	48121298	.	C	T	618.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.000e-01;DP=636;ExcessHet=0.0000;FS=1.481;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.73;ReadPosRankSum=0.049;SOR=0.380	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1261	20	0	1	0
chr19	48136115	48136115	C	T	exonic	LIG1	.	nonsynonymous SNV	LIG1:NM_001289064:exon13:c.G1138A:p.G380R	DNA ligase I deficiency (3)	.	.	.	.	.	.	.	.	.	.	1550286	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.1	T	1.0	D	1.0	D	0.000	N	1.000	D	2.435	M	2.08	T	-0.916	T	0.149	T	0.909	5.016	29.6	4.99	2.491	3.941	16.218	0.362	0.0682593496008	.	0.000798722	0.0006	0	0.0013	0.0056	0	0.0001	0.0056	0.0004	0.0002005	31	154602	rs139908769	0.0002	0.0002	0.0001	0.0002	0.0035	0.0001	0.0001	0.0030	0.0028	0	2.604e-05	0	0.0035	0	0	3.032e-05	0.0002	0.0007	0.0002	0.0002	0.0002	0.0003	0.0052	0.0002	0.0002	0.0037	0.0032	0	0	0	0	0.0052	0	0	0.0001	0	0.0006	0.0	0.91255	D	0.001	0.83351	D	0.999	0.90584	D	0.965	0.97372	D	0.000001	0.84330	N	0.053568	1	0.81001	D	2.75	0.80375	M	2.08	0.20255	T	-7.99	0.96426	D	0.729	0.75650	-0.9164	0.46037	T	0.149	0.47540	T	10	0.024110198	0.00652	T	0.068259	0.70401	D	0.362	0.68230	0.775	0.90080	0.441844919209	0.43804	0.8386880164705979	0.83828	1.05361816438	0.76248	0.803375005722	0.82478	D	0.316603	0.68813	T	-0.093652	0.37471	T	0.0953108	0.76598	D	0.21166191351648	0.21040	T	0.996578	0.98962	D	0.8875633	0.90299	0.7779542	0.86904	0.8875633	0.90300	0.7779542	0.86905	-12.833	0.89281	D	.	.	0.298	0.55685	B	.;.;.;.	.;.;.;.	5.198759	0.87212	29.2	0.99924538721071599	0.98980	0.91591	0.53849	D	AEFBI	0.523324	0.54697	D	0.69625442273053	0.79387	7.066907	0.652705413642944	0.78811	6.952274	0.999999984319403	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.99	4.99	0.65942	4.140000	0.57795	7.517000	0.59705	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.269000	0.23743	0.0:1.0:0.0:0.0	16.218	0.82059	846	0.36215	DNA ligase, ATP-dependent, N-terminal;DNA ligase, ATP-dependent, N-terminal;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1351.98	41	chr19	48136115	.	C	T	1351.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=1058;ExcessHet=0.0000;FS=2.554;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=0.780;SOR=0.439	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,113,1569	20	0	1	0
chr19	48140013	48140013	C	T	exonic	LIG1	.	nonsynonymous SNV	LIG1:NM_001289064:exon10:c.G841A:p.V281M	DNA ligase I deficiency (3)	.	415	1099	7	1	0	9	0.00407793	.	.	1158606	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.994	D	0.816	P	0.045	N	0.759	D	1.995	M	2.13	T	-0.992	T	0.058	T	0.407	2.974	15.92	1.55	0.195	0.553	7.081	0.103	.	0.0022	0.00199681	0.0033	9.639e-05	0.0004	0	0.0136	0.0032	0.0077	0.0050	0.0029689	459	154602	rs3730947	0.0027	0.0027	0.0026	0.0028	0.0055	0.0026	0.0026	0.0051	0.0049	0.0002	0.0004	0.0095	0	0.0153	0.0016	0.0020	0.0028	0.0055	0.0028	0.0028	0.0021	0.0035	0.0054	0.0026	0.0025	0.0038	0.0032	0.0006	0	0.0005	0.0101	0.0002	0.0165	0	0.0022	0.0019	0.0054	0.001	0.78490	D	0.002	0.79402	D	0.994	0.66517	D	0.816	0.58888	P	0.045139	0.23568	N	0.447839	0.759073	0.34017	D	2.135	0.59519	M	2.13	0.19588	T	-2.28	0.50830	N	0.386	0.47672	-0.9917	0.32167	T	0.058	0.24502	T	10	0.014671981	0.00308	T	.	.	.	0.103	0.29403	.	.	0.440394187108	0.43661	0.5568665366148533	0.55613	0.80779589675	0.66579	0.355817586184	0.18775	T	0.225735	0.59056	T	-0.435523	0.01374	T	-0.396595	0.33782	T	0.0345920890856649	0.02739	T	0.98999	0.96889	D	0.46690133	0.65099	0.4419109	0.67459	0.46690133	0.65100	0.4419109	0.67459	-9.456	0.72857	D	.	.	0.171	0.51703	B	.;.;.;.	.;.;.;.	2.513593	0.32468	19.05	0.99762343674211051	0.85172	0.08890	0.14750	N	AEFGBI	0.031938	0.03514	N	-0.122491504024009	0.36413	2.104502	-0.276718362843338	0.28866	1.612848	4.2750514314573E-4	0.06935	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.89	1.55	0.22356	0.416000	0.20918	1.646000	0.27819	0.599000	0.40250	0.092000	0.22623	0.925000	0.28409	0.825000	0.38878	0.0:0.6204:0.0:0.3796	7.081	0.24408	846	0.36215	DNA ligase, ATP-dependent, N-terminal;DNA ligase, ATP-dependent, N-terminal;.;.	.	.	.	.	rs3730947	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2529.98	41	chr19	48140013	.	C	T	2529.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.77;DP=1035;ExcessHet=0.0000;FS=8.023;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=1.31;SOR=1.179	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,108,1331	20	0	1	0
chr19	48143892	48143892	G	A	exonic	LIG1	.	nonsynonymous SNV	LIG1:NM_001289064:exon8:c.C644T:p.P215L	DNA ligase I deficiency (3)	.	422	1098	2	0	0	2	0.000909918	.	.	3401586	Immunodeficiency_96	MONDO:MONDO:0030693,MedGen:C5676930,OMIM:619774	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.31	T	0.058	B	0.005	B	0.639	N	1.000	N	1.1	L	2.24	T	-0.986	T	0.028	T	0.251	1.997	12.63	-2.15	-0.034	0.077	8.615	0.049	0.00483390802775	.	0.000599042	0.0002	9.612e-05	8.639e-05	0	0	0	0	0.0013	0.0001682	26	154602	rs574879811	4.859e-05	4.857e-05	2.315e-05	7.428e-05	0.0007	3.928e-05	3.606e-05	0.0005	0.0005	2.988e-05	4.472e-05	0	0	0	0.0007	2.699e-06	8.283e-05	0.0006	3.942e-05	3.937e-05	2.571e-05	5.376e-05	0.0008	1.715e-05	1.129e-05	0.0003	0.0002	4.815e-05	0	0	0	0	0	0	0	0	0.0008	0.186	0.21467	T	0.307	0.20615	T	0.058	0.22967	B	0.005	0.11217	B	0.638861	0.10618	N	0.841183	1	0.08975	N	1.845	0.48678	L	2.24	0.17923	T	-1.07	0.27876	N	0.263	0.36359	-0.9862	0.33542	T	0.028	0.12014	T	10	0.013765395	0.00291	T	0.004834	0.12098	T	0.049	0.13647	0.435	0.48664	0.110078149338	0.10416	0.22033651009982816	0.21948	0.282174067458	0.30679	0.415889680386	0.27271	T	0.169107	0.51637	T	-0.503203	0.00548	T	-0.57358	0.15123	T	0.0432850219708577	0.04289	T	0.827017	0.49049	T	0.08708557	0.20267	0.043235645	0.05332	0.08708557	0.20266	0.043235645	0.05331	-8.494	0.66933	D	.	.	0.081	0.08033	B	.;.;.;.	.;.;.;.	1.182339	0.15731	12.06	0.88207985262894839	0.17798	0.05502	0.11389	N	AEFDBI	0.056892	0.10553	N	-0.865937033076602	0.11660	0.5639068	-0.885679593804264	0.12433	0.6394948	7.25582715831784E-4	0.07704	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	4.88	-2.15	0.06705	0.063000	0.14285	-0.219000	0.10781	-0.108000	0.15293	0.000000	0.06391	0.000000	0.08366	0.861000	0.40843	0.0841:0.0:0.2364:0.6795	8.615	0.32990	846	0.36215	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1188.98	36	chr19	48143892	.	G	A	1188.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.968;DP=996;ExcessHet=0.0000;FS=3.933;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=0.934;SOR=0.769	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1354	20	0	1	0
chr19	48149836	48149836	G	A	exonic	LIG1	.	nonsynonymous SNV	LIG1:NM_001289064:exon7:c.C499T:p.R167W	DNA ligase I deficiency (3)	.	414	1107	1	0	0	1	0.000451467	.	.	1653011	LIG1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.018	B	0.008	B	0.001	D	0.996	D	1.87	L	2.91	T	-0.820	T	0.130	T	0.684	1.322	10.34	3.89	2.468	1.794	11.663	0.242	0.0186592641523	.	0.000998403	0.0003	0	0	0.0033	0.0002	7.757e-05	0.0023	6.327e-05	0.0002975	46	154602	rs55686525	0.0002	0.0002	0.0002	0.0002	0.0031	0.0002	0.0002	0.0026	0.0025	2.988e-05	0	0	0.0031	0.0004	0.0002	7.017e-05	0.0004	0.0002	0.0003	0.0003	0.0002	0.0003	0.0041	0.0002	0.0002	0.0027	0.0023	2.41e-05	0	0	0	0.0041	0.0004	0	0.0002	0	0.0004	0.053	0.38863	T	0.04	0.52389	D	0.018	0.17786	B	0.003	0.13708	B	0.000541	0.43581	D	0.190381	0.988674	0.43151	D	2.125	0.59049	M	0.42	0.58468	T	-3.12	0.64826	D	0.386	0.42737	-0.8203	0.53915	T	0.130	0.43907	T	10	0.009225637	0.00208	T	0.018659	0.40796	T	0.242	0.54781	.	.	0.469989170139	0.46626	0.401887714124782	0.40104	0.302341161422	0.32561	0.499039411545	0.38693	T	0.630346	0.88535	D	-0.267324	0.12056	T	-0.158875	0.58453	T	0.077280349999158	0.09636	T	0.867413	0.59782	D	0.057801496	0.11550	0.07397428	0.16134	0.057801496	0.11549	0.07397428	0.16133	-11.541	0.82961	D	.	.	0.131	0.44358	B	.;.;.;.	.;.;.;.	3.582904	0.50517	23.0	0.99393530791717755	0.62474	0.82847	0.42021	D	AEFDBI	0.303685	0.41159	N	-0.177846749731187	0.34059	1.939468	-0.104450424094166	0.35211	2.034393	0.0194566679801555	0.13164	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.89	3.89	0.44098	2.086000	0.41268	4.141000	0.42089	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.474000	0.28430	0.0:0.0:1.0:0.0	11.663	0.50622	846	0.36215	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	997.98	33	chr19	48149836	.	G	A	997.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.791;DP=761;ExcessHet=0.0000;FS=1.985;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.86;ReadPosRankSum=0.617;SOR=0.797	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1182	20	0	1	0
chr19	48286465	48286465	A	G	exonic	ZNF114	.	nonsynonymous SNV	ZNF114:NM_001331097:exon6:c.A841G:p.T281A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.003	B	0.004	B	.	.	1.000	N	0	N	3.52	T	-0.943	T	0.008	T	0.186	-0.614	1.269	-2.9	-0.828	-0.271	1.036	0.059	0.000565999908045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.15665	T	0.468	0.12316	T	0.003	0.11197	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.52	0.04905	T	0.5	0.02945	N	0.052	0.02366	-0.9425	0.42218	T	0.008	0.02801	T	9	0.06904417	0.09851	T	5.66E-4	0.00221	T	0.059	0.16972	0.476	0.55342	0.101711395817	0.09552	0.022784355542991477	0.02230	0.302393690479	0.32568	0.269729077816	0.06106	T	0.067412	0.33196	T	-0.289492	0.09686	T	-0.653611	0.08703	T	0.0735681130619567	0.09144	T	0.339366	0.07307	T	0.0219442	0.00826	0.023678334	0.00381	0.0219442	0.00825	0.023678334	0.00381	-3.36	0.14523	T	.	.	0.240	0.47448	B	.;.;.	.;.;.	0.062657	0.04731	1.361	0.28516384150034407	0.01468	0.06479	0.12488	N	AEFBCI	0.055917	0.10294	N	-1.29007182708259	0.03794	0.1701184	-1.38815772412125	0.03377	0.15742	0.344595412342946	0.19619	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	2.17	-2.9	0.05310	0.796000	0.26646	-4.755000	0.02001	0.483000	0.22176	0.375000	0.25965	0.000000	0.08366	0.001000	0.02609	0.2459:0.1892:0.3787:0.1863	1.036	0.01451	917	0.20147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2432.98	35	chr19	48286465	.	A	G	2432.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=907;ExcessHet=0.0000;FS=5.651;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.37;ReadPosRankSum=0.421;SOR=0.625	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1080	20	0	1	0
chr19	48286567	48286567	T	A	exonic	ZNF114	.	nonsynonymous SNV	ZNF114:NM_001331097:exon6:c.T943A:p.Y315N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.968	D	0.738	P	.	.	1.000	N	1.035	L	3.09	T	-1.020	T	0.026	T	0.304	0.041	4.226	2.49	1.417	-1.220	5.654	0.053	0.00125812341601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.17526	T	0.282	0.21545	T	0.968	0.56581	D	0.738	0.55619	P	.	.	.	.	1	0.08975	N	0.605	0.15622	N	3.09	0.08371	T	-2.82	0.59545	D	0.252	0.28498	-1.0197	0.23812	T	0.026	0.10998	T	9	0.15602317	0.29394	T	0.001258	0.01708	T	0.053	0.14996	0.508	0.60386	0.163833314356	0.15978	0.02685025346828323	0.02635	0.643226507615	0.57866	0.466105878353	0.34147	T	0.052003	0.29039	T	-0.260834	0.12804	T	-0.612447	0.11786	T	0.403069886879654	0.29058	T	0.632737	0.24712	T	0.14125957	0.32557	0.20940675	0.45283	0.14125957	0.32557	0.20940675	0.45282	-4.752	0.34027	T	.	.	0.916	0.83922	P	.;.;.	.;.;.	1.983379	0.25196	16.67	0.48409841752939298	0.04037	0.06722	0.12743	N	AEBCI	0.066528	0.13032	N	-0.388025356113769	0.25894	1.409124	-0.5628433363221	0.20465	1.102728	0.176278228532017	0.17808	0.460665	0.09802	0	0.588066	0.40923	0	0.575934	0.27490	0	0.567892	0.33627	0	.	.	2.49	2.49	0.29274	-3.140000	0.00647	-10.676000	0.00677	0.543000	0.25316	0.000000	0.06391	0.000000	0.08366	0.753000	0.35893	0.0:0.0:0.2834:0.7166	5.654	0.16911	917	0.20147	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1768.98	124	chr19	48286567	.	T	A	1768.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.954;DP=819;ExcessHet=0.0000;FS=4.678;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.27;ReadPosRankSum=0.060;SOR=0.383	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1080	20	0	1	0
chr19	48296984	48296984	G	A	exonic	CCDC114	.	nonsynonymous SNV	CCDC114:NM_144577:exon14:c.C2005T:p.R669W	Ciliary dyskinesia, primary, 20, Autosomal recessive	.	411	1107	4	0	0	4	0.00180343	.	.	1674749	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.996	D	0.55	P	.	.	1.000	N	0.805	L	1.52	T	-1.048	T	0.050	T	0.273	3.615	18.40	-1.75	-0.199	0.056	2.589	0.098	0.0154941551991	.	0.000199681	3.612e-05	0.0003	0	0	0	1.614e-05	0	0	3.88e-05	6	154602	rs200369693	2.83e-05	2.942e-05	2.745e-05	2.917e-05	0.0002	2.106e-05	1.895e-05	4.098e-05	2.693e-05	0.0001	2.273e-05	0	0	0	0.0002	2.349e-05	3.345e-05	8.232e-05	4.596e-05	5.249e-05	1.285e-05	8.056e-05	0.0001	2.108e-05	1.526e-05	2.259e-05	1.03e-05	7.216e-05	0	0.0001	0	0	0	0	2.94e-05	0	0	0.002	0.72154	D	0.002	0.79402	D	0.996	0.68779	D	0.55	0.49239	P	.	.	.	.	0.999979	0.18612	N	0.895	0.22405	L	1.52	0.30669	T	-2.23	0.50012	N	0.196	0.21580	-1.0482	0.14903	T	0.050	0.21417	T	9	0.074353665	0.11354	T	0.015494	0.36250	T	0.098	0.28162	.	.	0.495970961353	0.49232	0.1121170974195753	0.11140	0.50002320279	0.48426	0.225140228868	0.01628	T	0.004179	0.03591	T	-0.38314	0.02976	T	-0.508696	0.21450	T	0.0882969885034126	0.11013	T	0.60444	0.22695	T	0.078992866	0.18022	0.10450226	0.25100	0.078992866	0.18022	0.10450226	0.25100	-5.602	0.42810	T	.	.	0.104	0.18869	B	.	.	2.878156	0.38083	20.6	0.99824626746941181	0.90677	0.04767	0.10476	N	AEFDBI	0.139365	0.26094	N	-0.528184109127093	0.21173	1.121711	-0.734428723475018	0.16106	0.8504197	0.0184686430562513	0.13062	0.700653	0.57754	0	0.588066	0.40923	0	0.717052	0.78885	0	0.542086	0.14980	0	.	.	3.51	-1.75	0.07598	-0.019000	0.12487	-0.758000	0.07548	0.676000	0.76740	0.010000	0.18352	0.000000	0.08366	0.379000	0.26312	0.1011:0.1515:0.4172:0.3302	2.589	0.04543	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	605.98	31	chr19	48296984	.	G	A	605.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=659;ExcessHet=0.0000;FS=3.462;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.54;ReadPosRankSum=-2.164e+00;SOR=0.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1126	20	0	1	0
chr19	48345297	48345297	C	T	exonic	TMEM143	.	nonsynonymous SNV	TMEM143:NM_001303538:exon3:c.G322A:p.D108N	.	.	431	1072	19	0	0	19	0.0087841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.036	B	0.012	B	0.000	D	1.000	D	0.895	L	0.89	T	-1.058	T	0.073	T	0.025	2.060	12.84	4.33	2.135	3.226	15.989	0.140	.	0.0072	0.00379393	0.0081	0.0014	0.0108	0	0.0015	0.0114	0.0059	0.0035	0.0076713	1186	154602	rs34488893	0.0086	0.0086	0.0088	0.0084	0.0098	0.0084	0.0084	0.0096	0.0096	0.0013	0.0096	0.0083	0	0.0027	0.0084	0.0098	0.0086	0.0029	0.0063	0.0063	0.0062	0.0064	0.0101	0.0060	0.0059	0.0088	0.0084	0.0025	0.0121	0.0101	0.0058	0	0.0016	0.0306	0.0092	0.0076	0.0023	0.2	0.23997	T	0.0	0.92824	D	0.009	0.20732	B	0.007	0.16012	B	0.000018	0.62929	D	0.000000	0.647612	0.81001	D	2.095	0.58118	M	0.81	0.49358	T	-1.23	0.31170	N	0.315	0.36148	-1.0577	0.12337	T	0.073	0.29419	T	10	0.004316032	0.00087	T	.	.	.	0.140	0.37593	.	.	0.292062946507	0.28806	0.5104324674942305	0.50965	0.291305071471	0.31533	0.473314523697	0.35136	T	0.040388	0.25509	T	-0.603541	0.00139	T	-0.629334	0.10466	T	0.0141490791173392	0.00277	T	0.752425	0.37456	T	0.14458154	0.33180	0.1222838	0.29499	0.14458154	0.33180	0.1222838	0.29498	-4.601	0.32184	T	.	.	0.111	0.36174	B	.;.;.	.;.;.	3.197432	0.43469	21.7	0.99240108211587252	0.56501	0.85516	0.44656	D	AEFDBI	0.393075	0.47086	N	-0.357937413184623	0.26981	1.47683	-0.241450322178204	0.30068	1.689757	0.978063105480638	0.29883	0.695654	0.57023	0	0.723109	0.82256	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.33	4.33	0.51083	3.270000	0.51303	4.728000	0.44539	0.549000	0.26987	0.990000	0.36992	1.000000	0.68203	0.788000	0.37229	0.0:1.0:0.0:0.0	15.989	0.79977	952	0.10565	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1636.98	36	chr19	48345297	.	C	T	1636.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.112e+00;DP=806;ExcessHet=0.0000;FS=2.495;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.23;ReadPosRankSum=-1.850e-01;SOR=0.479	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1232	20	0	1	0
chr19	48443162	48443162	C	G	exonic	GRIN2D	.	nonsynonymous SNV	GRIN2D:NM_000836:exon14:c.C3236G:p.A1079G,	Epileptic encephalopathy, early infantile, 46, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.013	B	0.003	B	0.202	N	1.000	N	0	N	2.71	T	-1.015	T	0.021	T	0.229	-1.507	0.017	1.39	1.087	0.633	8.390	0.042	0.0108368643589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.791e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.354	0.17268	T	0.013	0.16609	B	0.003	0.08700	B	0.202408	0.03329	N	2.474360	1	0.08975	N	0	0.06538	N	2.71	0.12055	T	-0.16	0.09460	N	0.182	0.19728	-1.0152	0.25272	T	0.021	0.08732	T	10	0.05956039	0.07178	T	0.010837	0.27831	T	0.042	0.11227	0.175	0.08135	0.479878309988	0.47616	0.2617113628082863	0.26084	.	.	0.837130248547	0.87656	D	0.075337	0.35154	T	-0.287901	0.09848	T	-0.651326	0.08862	T	0.0205275695389285	0.00752	T	0.344066	0.07525	T	0.065578416	0.14029	0.10112776	0.24200	0.065578416	0.14029	0.10112776	0.24199	-3.33	0.14126	T	.	.	0.050	0.00145	B	.	.	1.099557	0.14838	11.37	0.67304134787835246	0.08314	0.01936	0.05897	N	AEFDBI	0.024655	0.01562	N	-1.07506332358685	0.07105	0.3290878	-1.10628436869591	0.07580	0.369235	0.995790733793858	0.34330	0.59774	0.34471	0	0.578056	0.33634	0	0.576033	0.28219	0	0.63947	0.58350	0	.	.	1.39	1.39	0.21325	0.299000	0.18892	.	.	0.418000	0.20770	0.001000	0.13787	.	.	0.052000	0.15357	0.0:1.0:0.0:0.0	8.390	0.31685	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.03125	51.23	6	chr19	48443162	.	C	G	51.23	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-1.501e+00;DP=177;ExcessHet=0.0000;FS=20.166;InbreedingCoeff=-0.1387;MLEAC=1;MLEAF=0.031;MQ=59.83;MQRankSum=-2.346e+00;QD=1.25;ReadPosRankSum=-1.290e-01;SOR=3.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:5,0:5:15:0|1:48443157_C_G:0,15,207:48443157	15	0	1	5
chr19	48443875	48443875	G	A	exonic	GRIN2D	.	nonsynonymous SNV	GRIN2D:NM_000836:exon14:c.G3949A:p.G1317S,	Epileptic encephalopathy, early infantile, 46, Autosomal dominant	.	439	1065	17	1	0	19	0.00884132	.	.	1610322	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.48	T	0.011	B	0.01	B	0.912	U	0.986	N	0	N	2.96	T	-0.967	T	0.005	T	0.185	1.269	10.14	3.24	1.839	.	6.535	0.035	.	.	0.0123802	0.0528	0	0.0312	0	0	0.0064	0.0125	0.0720	0.0048641	752	154602	rs191119443	0.0059	0.0058	0.0044	0.0074	0.0551	0.0058	0.0058	0.0537	0.0531	0.0005	0.0040	0.0047	3.448e-05	9.159e-05	0.0051	0.0030	0.0066	0.0551	0.0038	0.0037	0.0032	0.0043	0.0555	0.0035	0.0034	0.0501	0.0479	0.0008	0	0.0037	0.0040	0.0004	0	0	0.0028	0.0033	0.0555	0.401	0.10447	T	0.616	0.07543	T	0.011	0.15914	B	0.01	0.14941	B	0.911519	0.08549	U	0.924145	0.986144	0.24644	N	-0.205	0.04094	N	2.96	0.09542	T	0.17	0.05125	N	0.166	0.17553	-0.9666	0.37894	T	0.005	0.01725	T	10	0.0019791722	0.00028	T	.	.	.	0.035	0.08770	.	.	.	.	0.14639003486082292	0.14561	.	.	0.900060594082	0.96447	D	0.046192	0.27349	T	-0.613197	0.00121	T	-0.612612	0.11774	T	0.0198147061849218	0.00683	T	0.567543	0.20130	T	0.062713966	0.13127	0.07339499	0.15944	0.068769485	0.15009	0.07339499	0.15943	-3.692	0.19200	T	.	.	0.106	0.19839	B	.	.	3.550016	0.49897	22.9	0.9749647172538225	0.34272	0.39949	0.26327	N	AEFDBCI	0.124563	0.24068	N	-0.495661383120007	0.22223	1.185071	-0.335326958120525	0.26967	1.493161	0.999996145135024	0.74766	0.700653	0.57754	0	0.596491	0.49125	0	0.717052	0.78885	0	0.63947	0.58350	0	.	.	3.24	3.24	0.36257	1.751000	0.37967	10.920000	0.84231	0.504000	0.22967	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1385:0.0:0.8615:0.0	6.535	0.21543	958	0.09170	.	.	.	.	.	rs191119443	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.02381	210.98	13	chr19	48443875	.	G	A	210.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.900e-01;DP=458;ExcessHet=0.0000;FS=1.957;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=-2.810e-01;SOR=0.634	GT:AD:DP:GQ:PL	0/0:24,0:24:57:0,57,855	20	0	1	0
chr19	48498017	48498017	G	T	exonic	LMTK3	.	nonsynonymous SNV	LMTK3:NM_001080434:exon12:c.C3139A:p.P1047T,	.	.	382	1139	1	0	0	1	0.000438789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.001	B	0.002	B	0.447	N	1.000	N	0.55	N	-1.1	T	-0.906	T	0.235	T	0.105	1.534	11.08	2.95	2.041	0.410	8.888	0.154	0.0991348850372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.34982	T	0.186	0.31730	T	0.001	0.07471	B	0.002	0.06944	B	0.446559	0.12561	N	0.676525	0.999989	0.18198	N	0.755	0.19153	N	-1.09	0.77336	T	-1.83	0.42957	N	0.086	0.06322	-0.9064	0.47285	T	0.235	0.60209	T	10	0.07843387	0.12499	T	0.099135	0.77058	D	0.154	0.40340	0.258	0.20002	0.399889258716	0.39604	.	.	.	.	0.378645479679	0.22064	T	0.013296	0.11527	T	-0.144582	0.29163	T	-0.445458	0.28198	T	0.10729899635362	0.13141	T	0.572243	0.20426	T	0.07401325	0.16579	0.10779545	0.25956	0.07401325	0.16579	0.10779545	0.25955	-2.054	0.03392	T	.	.	0.110	0.21011	B	.;.;.	.;.;.	2.182308	0.27816	17.59	0.98145929099690643	0.38647	0.05274	0.11115	N	AEFDBI	0.034099	0.04165	N	-0.566988768148765	0.19953	1.048362	-0.451328774919717	0.23511	1.282528	0.999924831275694	0.46280	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.63947	0.58350	0	.	.	4.14	2.95	0.33285	0.710000	0.25421	5.164000	0.47803	0.614000	0.49286	0.000000	0.06391	1.000000	0.68203	0.928000	0.46473	0.0:0.3044:0.6956:0.0	8.888	0.34573	958	0.09170	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1388.98	34	chr19	48498017	.	G	T	1388.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.190e-01;DP=824;ExcessHet=0.0000;FS=0.795;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=0.511;SOR=0.542	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1015	20	0	1	0
chr19	48513149	48513149	G	T	exonic	LMTK3	.	nonsynonymous SNV	LMTK3:NM_001080434:exon1:c.C41A:p.A14E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	.	.	.	.	.	.	1.000	N	.	.	-1.06	T	-0.725	T	0.316	T	0.099	1.601	11.31	-0.439	-0.009	1.828	5.381	0.104	0.259803546549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.109	0.37449	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.06	0.76819	T	-0.04	0.07590	N	0.175	0.18784	-0.7247	0.59229	T	0.316	0.68602	T	6	0.12827146	0.24399	T	0.259804	0.89460	D	0.104	0.29647	0.296	0.26041	0.162503812791	0.15892	.	.	.	.	0.476178914309	0.35531	T	.	.	.	-0.128877	0.31679	T	-0.422899	0.30744	T	0.12172662792768	0.14597	T	0.261074	0.04204	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.37426	B	.	.	1.479115	0.19040	14.06	0.94343225753593862	0.24685	0.18644	0.20344	N	AEFDGBHCI	0.036541	0.04886	N	-0.562093073166344	0.20107	1.057492	-0.757737564251209	0.15532	0.8173458	0.999915497059066	0.45857	0.455138	0.09556	0	0.609123	0.50646	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	2.94	-0.439	0.11652	1.342000	0.33524	2.910000	0.35502	0.676000	0.76740	0.003000	0.16062	0.539000	0.25405	0.818000	0.38543	0.3997:0.0:0.6003:0.0	5.381	0.15495	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1342.98	35	chr19	48513149	.	G	T	1342.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.465;DP=815;ExcessHet=0.0000;FS=2.217;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.17;ReadPosRankSum=-1.031e+00;SOR=0.742	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr19	48612943	48612943	C	G	exonic	FAM83E	.	nonsynonymous SNV	FAM83E:NM_017708:exon3:c.G430C:p.E144Q,	.	.	422	1076	24	0	0	24	0.0110294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.251	B	0.132	B	0.001	N	0.565	N	2.115	M	2.38	T	-1.053	T	0.037	T	0.202	2.495	14.30	4.32	1.378	1.662	14.092	0.091	.	0.0036	0.00279553	0.0151	0.0026	0.0030	0	0.0698	0.0198	0.0095	0.0124	0.0035347	92	26028	rs144922959	0.0056	0.0056	0.0055	0.0057	0.0090	0.0055	0.0055	0.0084	0.0082	0.0007	0.0022	0.0021	2.615e-05	0.0199	0.0053	0.0053	0.0048	0.0090	0.0053	0.0053	0.0047	0.0060	0.0065	0.0050	0.0049	0.0060	0.0058	0.0010	0.0307	0.0029	0.0014	0	0.0191	0.0034	0.0065	0.0061	0.0062	0.097	0.30943	T	0.057	0.55341	T	0.251	0.31212	B	0.132	0.33005	B	0.000783	0.41772	N	0.194180	0.564695	0.31228	N	2.285	0.65182	M	2.38	0.15843	T	-1.57	0.37955	N	0.222	0.24883	-1.0529	0.13601	T	0.037	0.15986	T	10	0.008989662	0.00203	T	.	.	.	0.091	0.26358	.	.	0.260735089382	0.25697	0.607910831339999	0.60723	0.291684175593	0.31578	0.400802254677	0.25180	T	0.033081	0.22763	T	-0.546146	0.00308	T	-0.551727	0.17161	T	0.0221097732247113	0.00922	T	0.708229	0.31875	T	0.17021164	0.37583	0.096265286	0.22865	0.17021164	0.37582	0.096265286	0.22865	-6.732	0.52051	T	.	.	0.140	0.30791	B	.;.	.;.	3.268119	0.44723	22.0	0.9961531712173114	0.75052	0.78484	0.38727	D	AEFBCI	0.505119	0.53640	D	-0.128154318384685	0.36169	2.087091	-0.0750261702795989	0.36427	2.119697	0.999999743710461	0.74766	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.613276	0.41899	0	.	.	5.38	4.32	0.50899	1.933000	0.39783	3.998000	0.41048	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.072000	0.16771	0.0:0.848:0.152:0.0	14.092	0.64522	804	0.43891	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	542.98	33	chr19	48612943	.	C	G	542.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.02;DP=748;ExcessHet=0.0000;FS=1.243;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=0.014;SOR=0.392	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1059	20	0	1	0
chr19	48627698	48627698	C	T	exonic	SPHK2	.	nonsynonymous SNV	SPHK2:NM_001204160:exon3:c.C410T:p.T137I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.799	P	0.164	B	0.003	N	0.770	D	1.1	L	2.19	T	-1.014	T	0.037	T	0.419	1.272	10.15	3.65	1.050	-0.684	5.926	0.078	0.042562997176	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1443541235	1.315e-05	1.436e-05	9.621e-06	1.673e-05	0.0016	8.41e-06	6.78e-06	0.0008	0.0006	0	0	0	0	0	0.0016	9.066e-06	0	0	6.57e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.424	0.09717	T	0.039	0.54934	D	0.483	0.36807	P	0.058	0.26451	B	0.002965	0.35639	N	0.276337	0.72371	0.34135	D	1.59	0.40313	L	2.19	0.31205	T	-0.87	0.23590	N	0.3	0.35832	-1.0136	0.25784	T	0.037	0.15770	T	10	0.09750736	0.17567	T	0.042563	0.60531	D	0.078	0.22779	0.333	0.32005	0.418718287753	0.41490	0.4724939423285051	0.47168	0.553627443534	0.52127	0.588596701622	0.51295	T	0.265165	0.69971	T	-0.159073	0.26902	T	-0.466274	0.25919	T	0.114608063132538	0.13895	T	0.871313	0.57716	D	0.07846499	0.17868	0.04454393	0.05795	0.07846499	0.17868	0.04454393	0.05795	-7.728	0.60989	D	.	.	0.138	0.31482	B	.;.;.;.;.;.	.;.;.;.;.;.	1.205084	0.15976	12.23	0.97383100012162593	0.33681	0.26297	0.22952	N	AEFDGBCI	0.174699	0.30185	N	-0.457264520626248	0.23495	1.262088	-0.433709654562803	0.24015	1.312721	0.999949040739727	0.47345	0.634777	0.41761	0	0.577304	0.33150	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	4.74	3.65	0.40985	0.029000	0.13555	1.741000	0.28400	0.599000	0.40250	0.004000	0.16614	0.918000	0.28264	0.895000	0.43227	0.1923:0.709:0.0:0.0987	5.926	0.18350	711	0.56613	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	834.98	72	chr19	48627698	.	C	T	834.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.38;DP=756;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=1.32;SOR=0.791	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,951	20	0	1	0
chr19	48661900	48661900	A	C	exonic	NTN5	.	nonsynonymous SNV	NTN5:NM_145807:exon7:c.T1247G:p.L416R,	.	.	445	1067	10	0	0	10	0.00466418	.	.	2818542	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.19	T	1.0	D	0.996	D	0.000	D	1.000	D	2.525	M	1.76	T	-0.862	T	0.167	T	0.785	3.794	19.26	5.06	2.039	7.427	13.059	0.410	.	.	0.00359425	0.0035	0	0	0	.	0.0140	0	0.0017	0.0011837	183	154602	rs549539292	0.0092	0.0081	0.0095	0.0089	0.0104	0.0091	0.0090	0.0102	0.0101	0.0011	0.0082	0.0015	0.0100	0.0010	0.0021	0.0104	0.0074	0.0013	0.0054	0.0054	0.0060	0.0047	0.0085	0.0051	0.0049	0.0079	0.0077	0.0017	0	0.0074	0.0017	0.0046	0.0004	0.0034	0.0085	0.0057	0.0019	0.002	0.72154	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000078	0.52346	D	0.080024	0.999848	0.49770	D	2.835	0.82492	M	1.76	0.25996	T	-4.86	0.81187	D	0.661	0.67045	-0.8621	0.51111	T	0.167	0.50551	T	10	0.010433108	0.00232	T	.	.	.	0.410	0.72176	.	.	0.495506531988	0.49185	0.7480164270814224	0.74747	1.24829072966	0.81747	0.855714678764	0.90473	D	0.045124	0.27026	T	-0.218863	0.18147	T	-0.0761272	0.65186	T	0.107642182510275	0.13177	T	0.70163	0.31127	T	0.8168878	0.85010	0.7648551	0.86110	0.8168878	0.85012	0.7648551	0.86110	-8.491	0.64370	D	.	.	0.123	0.25850	B	.	.	4.738528	0.76397	26.5	0.99734213998723276	0.82975	0.98862	0.87844	D	AEFDBI	0.896644	0.83792	D	0.637419719655996	0.75555	6.32706	0.555034100713651	0.71748	5.702393	0.999998322355908	0.74766	0.580535	0.33130	0	0.491513	0.07743	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.06	5.06	0.67838	8.072000	0.89294	10.351000	0.83297	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.636000	0.32315	1.0:0.0:0.0:0.0	13.059	0.58410	735	0.53711	Netrin module, non-TIMP type|Netrin domain|Netrin module, non-TIMP type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	109.98	19	chr19	48661900	.	A	C	109.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.356;DP=446;ExcessHet=0.0000;FS=2.307;InbreedingCoeff=-0.0249;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.87;ReadPosRankSum=1.48;SOR=1.721	GT:AD:DP:GQ:PL	0/0:24,0:24:66:0,66,990	20	0	1	0
chr19	48703267	48703267	C	T	exonic	FUT2	.	nonsynonymous SNV	FUT2:NM_000511:exon2:c.C311T:p.A104V	.	.	419	1054	48	1	0	50	0.0231696	.	.	984434	Familial_Otitis_Media	.	no_assertion_criteria_provided	confers_sensitivity	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.982	D	.	.	0.941	D	3.02	M	-4.16	D	1.135	D	0.939	D	0.79	2.857	15.52	4.19	2.037	4.733	14.405	0.779	.	0.0006	0.00319489	0.0039	0.0002	0.0015	0.0001	0	0.0014	0.0080	0.0210	0.0032923	509	154602	rs149356814	0.0019	0.0019	0.0013	0.0025	0.0206	0.0019	0.0018	0.0198	0.0195	0.0001	0.0010	0.0028	7.557e-05	1.892e-05	0.0116	0.0006	0.0025	0.0206	0.0013	0.0013	0.0012	0.0014	0.0194	0.0012	0.0011	0.0162	0.0150	9.624e-05	0	0.0011	0.0037	0	0	0.0102	0.0010	0.0019	0.0194	0.039	0.42487	D	0.019	0.59159	D	0.999	0.77913	D	0.982	0.75477	D	.	.	.	.	0.941004	0.37318	D	2.965	0.85198	M	-4.16	0.96826	D	-3.22	0.64939	D	0.558	0.81360	1.135	0.99931	D	0.939	0.97982	D	9	0.01712045	0.00364	T	.	.	.	0.779	0.92623	.	.	0.982550369732	0.98236	0.44415395212301567	0.44333	0.733435026441	0.62845	0.430974453688	0.29342	T	0.131596	0.46118	T	0.0547111	0.58947	T	0.265279	0.86341	D	0.0505083253708795	0.05590	T	0.894311	0.63332	D	0.28840944	0.51844	0.36057407	0.61497	0.36899018	0.58511	0.33836746	0.59615	-8.024	0.61234	D	.	.	0.322	0.54638	B	.;.;.	.;.;.	3.915589	0.57135	23.8	0.99915014806242197	0.98309	0.97369	0.74314	D	AEFGBI	0.579516	0.58029	D	0.583976673298565	0.72176	5.764432	0.441392951124102	0.64165	4.665643	0.532866957730309	0.21190	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.622129	0.49086	0	.	.	4.19	4.19	0.48645	4.729000	0.61702	4.155000	0.42174	0.589000	0.31548	0.994000	0.38300	0.999000	0.35428	0.091000	0.17840	0.0:1.0:0.0:0.0	14.405	0.66645	878	0.29785	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1170.98	69	chr19	48703267	.	C	T	1170.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.182;DP=1539;ExcessHet=0.0000;FS=1.530;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.21;MQRankSum=0.392;QD=10.46;ReadPosRankSum=-6.120e-01;SOR=0.874	GT:AD:DP:GQ:PL	0/0:89,0:89:99:0,120,1800	20	0	1	0
chr19	48800268	48800268	-	C	exonic	BCAT2	.	frameshift insertion	BCAT2:NM_001164773:exon2:c.53dupG:p.K19Qfs*140	.	.	405	1116	1	0	0	1	0.000447828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1504.94	40	chr19	48800268	.	G	GC	1504.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.062e+00;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.30;ReadPosRankSum=0.803;SOR=0.751	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,989	20	0	1	0
chr19	48867602	48867602	G	A	exonic	PLEKHA4	.	nonsynonymous SNV	PLEKHA4:NM_001161354:exon2:c.C19T:p.R7C	.	.	.	.	.	.	.	.	.	.	.	2436048	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.994	D	0.636	P	0.480	N	0.790	D	1.1	L	2.97	T	-0.956	T	0.037	T	0.402	3.409	17.52	-0.379	0.139	0.595	3.143	0.084	0.00700925025364	0.0002	.	0.0003	0	0	0	0	0.0005	0	0	0.0001229	19	154602	rs200342983	0.0003	0.0003	0.0004	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	5.991e-05	4.822e-05	3.906e-05	0	1.914e-05	0.0002	0.0004	0.0003	0	9.858e-05	9.85e-05	0.0001	6.727e-05	0.0002	6.008e-05	4.881e-05	0.0001	9.899e-05	2.412e-05	0	0	0	0	0	0	0.0002	0	0	0.121	0.28646	T	0.014	0.74150	D	0.994	0.66517	D	0.636	0.51948	P	0.479592	0.12181	N	0.692549	0.790	0.34379	D	1.79	0.46772	L	2.44	0.15145	T	-1.07	0.27876	N	0.53	0.60749	-0.9558	0.39952	T	0.037	0.16116	T	10	0.26882428	0.44403	T	0.007009	0.18567	T	0.084	0.24469	.	.	0.532263770911	0.52874	0.6854135247477745	0.68480	0.96972268499	0.73316	0.487459659576	0.37087	T	0.00695	0.06374	T	-0.389307	0.02718	T	-0.473046	0.25188	T	0.226879615722589	0.21802	T	0.687731	0.55771	T	0.06247556	0.13051	0.05309275	0.08876	0.06247556	0.13051	0.05309275	0.08875	-6.335	0.48999	T	.	.	0.200	0.42346	B	.;.	.;.	3.628795	0.51387	23.1	0.99883416758742771	0.95892	0.41068	0.26576	N	AEFDBI	0.215254	0.34063	N	-0.0588431016705045	0.39207	2.308486	-0.116657363547403	0.34717	2.000265	0.977252050606231	0.29803	0.766844	0.99359	0	0.624146	0.53433	0	0.851219	0.99655	0	0.605231	0.38476	0	.	.	4.8	-0.379	0.11871	0.671000	0.24853	4.872000	0.45577	0.676000	0.76740	0.931000	0.32310	1.000000	0.68203	0.344000	0.25523	0.2181:0.0:0.4253:0.3566	3.143	0.06076	738	0.53389	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1227.98	36	chr19	48867602	.	G	A	1227.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.734;DP=796;ExcessHet=0.0000;FS=1.880;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.74;ReadPosRankSum=1.56;SOR=0.478	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr19	48874185	48874185	G	A	exonic	PPP1R15A	.	nonsynonymous SNV	PPP1R15A:NM_014330:exon2:c.G952A:p.G318R,	.	.	409	1110	3	0	0	3	0.00134953	.	.	2757916	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.47	T	0.404	B	0.056	B	0.113	N	1.000	N	1.555	L	3.5	T	-0.957	T	0.013	T	0.041	2.166	13.20	1.65	0.394	0.500	6.402	0.045	0.00537499180907	.	.	5.766e-05	0	0	0	0	8.991e-05	0	6.057e-05	4.53e-05	7	154602	rs777970448	3.762e-05	3.762e-05	2.995e-05	4.538e-05	0.0002	2.959e-05	2.655e-05	6.246e-05	4.757e-05	0	0	0	0	0	0.0002	3.687e-05	4.967e-05	0.0001	1.971e-05	1.97e-05	1.285e-05	2.689e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.155	0.24183	T	0.256	0.23298	T	0.404	0.34945	B	0.056	0.26147	B	0.112617	0.19350	N	0.426180	1	0.08975	N	1.415	0.35607	L	3.5	0.05014	T	-2.41	0.52938	N	0.031	0.00770	-0.9572	0.39699	T	0.013	0.05273	T	10	0.071136236	0.10446	T	0.005375	0.13771	T	0.045	0.12272	0.158	0.06178	0.341696514166	0.33777	0.017306899043141703	0.01685	0.496624975885	0.48164	0.284677684307	0.08153	T	0.105345	0.41574	T	-0.486163	0.00682	T	-0.744434	0.03707	T	0.0659264436533819	0.08066	T	0.591241	0.21771	T	0.13162449	0.30675	0.0957446	0.22719	0.13162449	0.30675	0.0957446	0.22719	-4.618	0.32397	T	.	.	0.234	0.46722	B	.	.	1.243368	0.16394	12.51	0.9656511997805054	0.30276	0.11911	0.16940	N	AEFDBCI	0.101300	0.20349	N	-0.740088132719116	0.14904	0.7464589	-0.826156494374399	0.13862	0.7213716	0.99999999002904	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.638787	0.57140	0	.	.	3.85	1.65	0.23015	0.498000	0.22238	1.366000	0.25918	0.676000	0.76740	0.001000	0.13787	0.002000	0.18203	0.181000	0.21328	0.2238:0.0:0.7762:0.0	6.402	0.20847	730	0.54327	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1076.98	58	chr19	48874185	.	G	A	1076.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.450e-01;DP=1235;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=-1.216e+00;SOR=0.779	GT:AD:DP:GQ:PL	0/0:75,0:75:99:0,120,1800	20	0	1	0
chr19	48921293	48921293	G	A	exonic	NUCB1	.	nonsynonymous SNV	NUCB1:NM_006184:exon11:c.G1142A:p.R381H,	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.001	B	0.001	B	0.085	N	0.983	N	-0.345	N	2.25	T	-0.953	T	0.014	T	0.071	2.057	12.84	-0.032	0.108	2.069	6.522	0.017	0.00704993720002	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772993506	6.93e-06	8.893e-06	5.507e-06	8.373e-06	2.595e-05	3.5e-06	2.56e-06	1.96e-06	1.29e-06	0	0	0	2.595e-05	0	0	5.437e-06	3.357e-05	1.193e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.19157	T	0.265	0.22694	T	0.001	0.07471	B	0.0	0.01387	B	0.084912	0.20670	N	0.533090	0.982758	0.24939	N	0.895	0.22405	L	2.25	0.17761	T	0.53	0.02808	N	0.103	0.08646	-0.9534	0.40380	T	0.014	0.05753	T	10	0.048405528	0.04288	T	0.00705	0.18676	T	0.017	0.02790	0.226	0.15109	0.219573609325	0.21563	0.14077260956668808	0.14000	0.348646433695	0.36727	0.453892886639	0.32476	T	0.066119	0.32863	T	-0.322213	0.06718	T	-0.700613	0.05793	T	0.159408104869381	0.17828	T	0.838216	0.51127	T	0.021549104	0.00763	0.0348003	0.02613	0.021549104	0.00763	0.0348003	0.02613	-4.526	0.31227	T	.	.	0.068	0.02702	B	.;.	.;.	3.150379	0.42647	21.6	0.97157066461357822	0.32612	0.42131	0.26810	N	AEFDBCI	0.357308	0.44839	N	-0.676196906376727	0.16700	0.853216	-0.512048210627918	0.21826	1.182553	0.0216329292042841	0.13365	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.11	-0.0316	0.13236	1.869000	0.39156	5.278000	0.48172	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.58:0.0:0.42:0.0	6.522	0.21478	744	0.52588	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	765.98	39	chr19	48921293	.	G	A	765.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.951;DP=796;ExcessHet=0.0000;FS=4.124;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.32;ReadPosRankSum=-2.870e-01;SOR=0.283	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,114,1245	20	0	1	0
chr19	48939471	48939471	C	T	exonic	DHDH	.	nonsynonymous SNV	DHDH:NM_014475:exon4:c.C389T:p.P130L,	.	.	439	1082	1	0	0	1	0.000461894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.77	H	-0.49	T	0.558	D	0.662	D	0.887	4.750	26.6	5.12	2.838	5.072	16.461	0.687	0.077696889571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.84e-07	0	1.376e-06	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.125	0.97446	H	-0.49	0.70365	T	-9.62	0.98541	D	0.626	0.64733	0.558	0.91344	D	0.662	0.88280	D	10	0.83529687	0.82686	D	0.077697	0.72832	D	0.687	0.88585	0.764	0.89213	0.785456996267	0.78346	0.7595533039975413	0.75903	0.601118397083	0.55162	0.690645694733	0.65799	T	0.368944	0.73374	T	0.35275	0.86693	D	0.268925	0.86517	D	0.999960899353027	0.99918	D	0.873613	0.62583	D	0.8507039	0.87388	0.6976977	0.82196	0.8507039	0.87389	0.6976977	0.82197	-13.392	0.90913	D	.	.	0.392	0.66609	A	.;.	.;.	4.620227	0.73354	26.0	0.9987986259803836	0.95653	0.95099	0.63433	D	AEFI	0.591095	0.58733	D	0.902730120219812	0.91893	11.12058	0.800418153050571	0.89820	10.13596	0.999999979016124	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.12	5.12	0.69459	4.356000	0.59205	5.331000	0.48318	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:1.0:0.0:0.0	16.461	0.83887	764	0.49969	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	687.98	36	chr19	48939471	.	C	T	687.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.095e+00;DP=746;ExcessHet=0.0000;FS=2.092;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.58;ReadPosRankSum=-3.160e-01;SOR=0.420	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1105	20	0	1	0
chr19	48970958	48970958	C	T	exonic	GYS1	.	nonsynonymous SNV	GYS1:NM_001161587:exon12:c.G1423A:p.E475K	Glycogen storage disease 0, muscle, Autosomal recessive	YES	0	1505	17	0	0	17	0.00561612	.	.	334021	Neuroferritinopathy|Hereditary_hyperferritinemia_with_congenital_cataracts|Glycogen_storage_disease_due_to_muscle_and_heart_glycogen_synthase_deficiency|not_provided|GYS1-related_disorder	MONDO:MONDO:0011638,MedGen:C1853578,OMIM:606159,Orphanet:157846|MONDO:MONDO:0010952,MedGen:C1833213,OMIM:600886,Orphanet:163|MONDO:MONDO:0012693,MedGen:C1969054,OMIM:611556,Orphanet:137625|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.18	T	0.788	P	0.542	P	0.000	D	1.000	D	1.335	L	-0.19	T	-0.704	T	0.250	T	0.913	5.087	31	5.34	2.676	2.871	16.920	0.384	0.0243825774406	.	0.000399361	0.0010	0	0.0009	0	0	0.0001	0.0055	0.0059	0.0008021	124	154602	rs561646250	0.0005	0.0005	0.0003	0.0007	0.0064	0.0004	0.0004	0.0059	0.0058	0.0001	0.0002	0	0	0	0.0021	6.566e-05	0.0005	0.0064	0.0003	0.0003	0.0002	0.0004	0.0048	0.0002	0.0002	0.0033	0.0028	0	0	0.0003	0	0	0	0	0.0002	0.0005	0.0048	0.06	0.59928	T	0.315	0.19421	T	0.788	0.44546	P	0.472	0.46817	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.125	0.59049	M	-0.19	0.65931	T	-1.55	0.40850	N	0.639	0.65159	-0.7035	0.60270	T	0.250	0.61993	T	10	0.0136882365	0.00290	T	0.024383	0.47367	T	0.384	0.70112	0.635	0.77142	0.70587948629	0.70331	0.8152619720347196	0.81482	1.46970682267	0.86517	0.840509355068	0.88171	D	0.42792	0.77723	T	-0.0279745	0.47710	T	0.189652	0.82549	D	0.0642511732591454	0.07820	T	0.965203	0.87125	D	0.37449655	0.58914	0.32205808	0.58149	0.4041045	0.61016	0.3100395	0.57015	-8.129	0.61946	D	0.1734996223189777	0.21984	0.399	0.60783	A	.;.	.;.	5.222600	0.87654	29.3	0.99886871607356864	0.96204	0.82114	0.41392	D	AEFDGBHCI	0.694402	0.65342	D	0.318329892580858	0.57088	3.875081	0.403424435936439	0.61777	4.382758	1.0	0.98316	0.675202	0.55065	0	0.67197	0.64623	0	0.779548	0.98927	0	0.636	0.56748	0	.	.	5.34	5.34	0.75982	2.684000	0.46618	3.885000	0.40262	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	16.920	0.86029	704	0.57414	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	943.98	34	chr19	48970958	.	C	T	943.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.950e-01;DP=760;ExcessHet=0.0000;FS=2.035;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=0.079;SOR=0.416	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr19	49016232	49016232	G	A	exonic	LHB	.	nonsynonymous SNV	LHB:NM_000894:exon3:c.C262T:p.R88W,	Hypogonadotropic hypogonadism 23 with or without anosmia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	742047	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.057	B	0.009	B	0.520	N	1.000	N	3.205	M	-2.83	D	0.147	D	0.738	D	0.248	0.937	8.819	3.67	1.116	1.652	9.438	0.320	0.210042278878	.	0.000199681	0.0004	0	0	0.0055	0	3.022e-05	0	0.0001	0.0003493	54	154602	rs146251380	0.0002	0.0002	0.0001	0.0002	0.0031	0.0001	0.0001	0.0027	0.0025	2.991e-05	4.473e-05	0	0.0031	0	0.0002	7.735e-05	0.0001	0.0001	0.0002	0.0002	7.708e-05	0.0003	0.0052	0.0002	0.0001	0.0037	0.0032	0	0	6.533e-05	0	0.0052	0	0	2.941e-05	0.0005	0.0002	0.011	0.55530	D	0.001	0.83351	D	0.057	0.22878	B	0.009	0.14300	B	0.519948	0.11753	N	0.779549	0.999927	0.19486	N	2.53	0.73802	M	-2.83	0.91249	D	-4.98	0.82141	D	0.258	0.29197	0.147	0.85013	D	0.738	0.91047	D	10	0.023076266	0.00593	T	0.210042	0.87231	D	0.320	0.64215	.	.	0.881783468173	0.88062	0.41287213845133647	0.41203	0.0857855291812	0.09691	0.327191144228	0.14510	T	0.861376	0.96927	D	-0.263277	0.12520	T	-0.146671	0.59538	T	0.0922612855067189	0.11483	T	0.753825	0.37593	T	0.57365566	0.71260	0.5022225	0.71225	0.57365566	0.71261	0.5022225	0.71225	-8.637	0.65333	D	0.3886237931904241	0.48209	0.115	0.23113	B	.;.	.;.	3.316552	0.45594	22.2	0.99232848846849642	0.56278	0.30691	0.24147	N	AEFDGBHCI	0.234674	0.35739	N	-0.476291694801702	0.22859	1.223562	-0.505411360364221	0.22006	1.193167	0.990738750700466	0.32251	0.413467	0.06321	2	0.573116	0.20632	0	0.486962	0.07600	0	0.714379	0.83352	0	.	.	4.71	3.67	0.41236	1.608000	0.36458	8.320000	0.76961	-0.103000	0.15852	0.169000	0.23921	1.000000	0.68203	0.031000	0.13245	0.1007:0.0:0.8993:0.0	9.438	0.37814	744	0.52588	Glycoprotein hormone subunit beta;Glycoprotein hormone subunit beta	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1235.98	42	chr19	49016232	.	G	A	1235.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=859;ExcessHet=0.0000;FS=6.779;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.18;ReadPosRankSum=0.821;SOR=0.238	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr19	49022974	49022974	T	G	exonic	CGB3	.	nonsynonymous SNV	CGB3:NM_000737:exon3:c.A410C:p.D137A,	.	.	87	1430	5	0	0	5	0.0017452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	.	.	.	.	0.802	N	1.000	N	.	.	0.98	T	-1.033	T	0.016	T	0.289	-1.456	0.019	0.728	-0.037	0.809	6.304	0.077	.	.	.	0.0034	0.0010	0.0017	0.0187	0.0008	0.0017	0	0.0026	0.0011142	29	26028	rs200199557	0.0026	0.0030	0.0026	0.0026	0.0284	0.0025	0.0025	0.0270	0.0264	0.0011	0.0015	0.0013	0.0284	0.0010	0.0012	0.0018	0.0028	0.0025	0.0026	0.0028	0.0025	0.0027	0.0227	0.0024	0.0023	0.0193	0.0180	0.0014	0	0.0017	0.0021	0.0227	0.0007	0	0.0021	0.0016	0.0065	0.54	0.06802	T	0.715	0.05434	T	.	.	.	.	.	.	0.801573	0.09319	N	0.912604	1	0.08975	N	.	.	.	0.98	0.52187	T	1.04	0.01332	N	0.06	0.03175	-1.0329	0.19522	T	0.016	0.06664	T	7	0.004760444	0.00101	T	.	.	.	0.077	0.22490	.	.	0.231005064126	0.22704	0.04442556374414927	0.04386	2.04831823374	0.94325	0.619399189949	0.55644	T	0.006793	0.06218	T	-0.220466	0.17930	T	-0.55446	0.16900	T	0.00164960762368438	0.00017	T	.	.	.	0.0275371	0.01959	0.045615837	0.06176	0.0275371	0.01959	0.045615837	0.06175	-3.349	0.14378	T	.	.	.	.	.	.;.	.;.	-0.320042	0.02531	0.302	0.23343022011590989	0.00982	0.00525	0.02440	N	AEFI	0.012744	0.00148	N	-1.35207506264399	0.03104	0.1381007	-1.45006528752946	0.02769	0.1279868	6.53247957603065E-5	0.04366	0.516011	0.20929	0	0.588066	0.40923	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	1.8	0.728	0.17411	-0.108000	0.10827	0.215000	0.16006	-3.665000	0.00068	0.012000	0.18695	0.838000	0.27274	0.002000	0.04165	0.0:0.0:0.4707:0.5293	6.304	0.20335	759	0.50631	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	606.1	20	chr19	49022974	.	T	G	606.1	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.058e+00;DP=535;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0317;MLEAC=1;MLEAF=0.024;MQ=41.23;MQRankSum=2.10;QD=24.24;ReadPosRankSum=-1.151e+00;SOR=0.818	GT:AD:DP:GQ:PL	0/0:35,0:35:90:0,90,1350	20	0	1	0
chr19	49032504	49032504	G	A	exonic	CGB2	.	nonsynonymous SNV	CGB2:NM_033378:exon2:c.G10A:p.G4R,	.	.	78	1422	21	1	0	23	0.00802232	0.2826	0.454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.996	D	0.599	N	0.515	D	2.325	M	0.99	T	-0.607	T	0.235	T	0.431	1.969	12.54	2.45	1.313	4.596	8.976	0.220	.	0.0033	0.00359425	0.0082	0.0027	0.0135	0.0003	0.0070	0.0098	0.0118	0.0072	0.0021899	57	26028	rs144929524	0.0055	0.0055	0.0056	0.0055	0.0163	0.0054	0.0054	0.0132	0.0120	0.0009	0.0059	0.0030	2.543e-05	0.0028	0.0163	0.0059	0.0060	0.0053	0.0044	0.0045	0.0046	0.0043	0.0077	0.0042	0.0041	0.0066	0.0062	0.0012	0.0011	0.0077	0.0029	0	0.0024	0.0138	0.0064	0.0072	0.0036	0.104	0.29959	T	0.009	0.66756	D	.	.	.	.	.	.	0.599108	0.10976	N	0.804563	0.515301	0.31852	D	.	.	.	0.99	0.41750	T	-1.13	0.29114	N	0.566	0.58968	-0.6073	0.64515	T	0.235	0.60185	T	9	0.013303727	0.00283	T	.	.	.	0.220	0.51569	0.414	0.45216	0.654012466794	0.65112	0.4350314818241762	0.43420	3.40020819914	0.99696	0.694726705551	0.66384	T	.	.	.	-0.429351	0.01495	T	-0.387728	0.34818	T	0.0500308654537757	0.05506	T	0.465053	0.13602	T	0.11048758	0.26115	0.12610984	0.30376	0.11048758	0.26115	0.12610984	0.30376	-4.32	0.28457	T	.	.	0.383	0.58617	A	.	.	5.472398	0.91291	32	0.99816312420500131	0.89973	0.90942	0.52554	D	AEFBI	0.415470	0.48432	N	0.30472550932327	0.56392	3.803721	0.137176217975609	0.46466	2.892154	1.88447444572071E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	2.45	2.45	0.28953	5.237000	0.65185	7.725000	0.67498	0.325000	0.19437	1.000000	0.71638	1.000000	0.68203	0.051000	0.15275	0.0:0.0:1.0:0.0	8.976	0.35094	769	0.49307	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	401.98	33	chr19	49032504	.	G	A	401.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.40;DP=631;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.30;MQRankSum=-4.530e-01;QD=12.18;ReadPosRankSum=0.295;SOR=0.724	GT:AD:DP:GQ:PL	0/0:25,0:25:72:0,72,1080	20	0	1	0
chr19	49032576	49032576	C	G	exonic	CGB2	.	nonsynonymous SNV	CGB2:NM_001319065:exon2:c.C46G:p.R16G	.	.	175	1315	28	4	0	36	0.0135034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.969	D	0.003	N	0.949	N	2.49	M	-2.77	D	0.091	D	0.727	D	0.313	1.513	11.01	0.624	0.269	0.736	7.147	0.314	.	0.0038	0.00599042	0.0125	0.0018	0.0190	0	0.0062	0.0164	0.0294	0.0101	0.0025357	66	26028	rs369311910	0.0083	0.0082	0.0083	0.0083	0.0429	0.0082	0.0081	0.0377	0.0357	0.0031	0.0114	0.0270	2.661e-05	0.0029	0.0429	0.0081	0.0123	0.0074	0.0071	0.0071	0.0073	0.0069	0.0119	0.0067	0.0066	0.0104	0.0099	0.0025	0.0011	0.0119	0.0249	0	0.0027	0.0442	0.0089	0.0106	0.0058	0.004	0.65419	D	0.22	0.31629	T	.	.	.	.	.	.	0.003164	0.35330	N	0.277463	0.949426	0.26537	N	.	.	.	-2.77	0.90904	D	-3.56	0.68880	D	0.439	0.47765	0.091	0.84012	D	0.727	0.90655	D	10	0.013537228	0.00287	T	.	.	.	0.314	0.63588	.	.	0.914968962474	0.91411	0.44295366875919373	0.44212	3.3389385424	0.99635	0.413342803717	0.26920	T	.	.	.	-0.293793	0.09258	T	-0.185395	0.56020	T	0.0318637057931176	0.02284	T	0.928407	0.73561	D	0.42292413	0.62286	0.26347303	0.52154	0.42292413	0.62286	0.26347303	0.52153	-6.17	0.47679	T	.	.	0.268	0.53024	B	.;.	.;.	2.957116	0.39368	20.9	0.98790799955104336	0.46285	0.66708	0.33172	D	AEFI	0.251763	0.37157	N	0.0205258550701362	0.42790	2.584822	-0.190588880306432	0.31882	1.808461	5.27173936388819E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.79	0.624	0.16833	0.886000	0.27878	1.148000	0.24458	0.291000	0.18778	0.987000	0.36337	0.871000	0.27593	0.009000	0.08673	0.2676:0.7324:0.0:0.0	7.147	0.24764	769	0.49307	Glycoprotein hormone subunit beta;Glycoprotein hormone subunit beta	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.05	420.82	15	chr19	49032576	.	C	G	420.82	.	AC=2;AF=0.050;AN=40;BaseQRankSum=3.29;DP=243;ExcessHet=0.1128;FS=0.000;InbreedingCoeff=-0.0641;MLEAC=2;MLEAF=0.050;MQ=39.20;MQRankSum=0.00;QD=14.51;ReadPosRankSum=0.400;SOR=1.609	GT:AD:DP:GQ:PL	0/0:9,0:9:21:0,21,315	18	0	2	1
chr19	49061735	49061735	G	A	exonic	NTF4	.	nonsynonymous SNV	NTF4:NM_006179:exon2:c.C263T:p.A88V,	Glaucoma 1, open angle, 1O	.	1	1467	51	3	0	57	0.0190572	.	.	29056	Intellectual_disability,_X-linked_99|Glaucoma_1,_open_angle,_O	MONDO:MONDO:0010487,MedGen:C3806746,OMIM:300919,Orphanet:777|MONDO:MONDO:0013134,MedGen:C2751294,OMIM:613100	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.6	P	0.131	N	1.000	N	-0.55	N	-0.17	T	-0.985	T	0.090	T	0.718	2.502	14.32	3.54	1.945	2.334	11.307	0.334	.	0.0023	0.00579073	0.0059	0.0006	0.0021	0.0002	0	0.0041	0.0142	0.0215	0.0043143	667	154602	rs61732310	0.0034	0.0034	0.0029	0.0039	0.0178	0.0033	0.0033	0.0171	0.0168	0.0005	0.0017	0.0063	2.527e-05	0.0005	0.0163	0.0026	0.0040	0.0178	0.0025	0.0025	0.0024	0.0026	0.0189	0.0023	0.0022	0.0157	0.0146	0.0004	0.0121	0.0018	0.0055	0	0.0008	0.0136	0.0030	0.0038	0.0189	.	.	.	0.483	0.11795	T	0.999	0.77913	D	0.6	0.50752	P	0.130810	0.18645	N	0.405273	5.87488e-05	0.19238	A	-0.695	0.01866	N	-0.17	0.65563	T	.	.	.	0.324	0.36464	-0.9848	0.33879	T	0.090	0.34546	T	10	0.02159813	0.00520	T	.	.	.	.	.	.	.	0.779305911428	0.77726	0.24109617930085175	0.24023	.	.	0.545061886311	0.45161	T	0.224577	0.58905	T	-0.256087	0.13362	T	-0.126348	0.61278	T	0.0296463213828842	0.01935	T	0.638636	0.26756	T	0.10771276	0.25470	0.13080947	0.31424	0.1209873	0.28458	0.14495279	0.34394	-4.236	0.27270	T	0.10855820618084228	0.08962	0.118	0.25560	B	.;.	.;.	3.977641	0.58453	24.0	0.99798950836418121	0.88372	0.21620	0.21466	N	AEFDBHCI	0.117629	0.23034	N	-0.199531165461691	0.33154	1.877763	-0.223450324804954	0.30696	1.730661	0.999623941382992	0.41093	0.646311	0.45356	0	0.578056	0.33634	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	3.54	3.54	0.39650	1.654000	0.36950	6.452000	0.55675	0.614000	0.49286	0.954000	0.33273	1.000000	0.68203	0.757000	0.36037	0.0:0.0:1.0:0.0	11.307	0.48576	856	0.34373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2249.98	35	chr19	49061735	.	G	A	2249.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.007e+00;DP=854;ExcessHet=0.0000;FS=0.588;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.98;ReadPosRankSum=-1.400e-02;SOR=0.750	GT:AD:DP:GQ:PL	0/1:73,88:161:99:2264,0,1813	20	0	1	0
chr19	49118953	49118953	C	T	exonic	C19orf73	.	nonsynonymous SNV	C19orf73:NM_018111:exon1:c.G70A:p.V24M,	.	.	425	1059	36	2	0	40	0.0185357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.944	P	0.646	P	.	.	1.000	N	0	N	0.5	T	-1.045	T	0.074	T	0.482	1.148	9.674	1.0	0.360	-0.389	5.599	0.122	.	0.0054	0.00359425	0.0058	0.0012	0.0037	0	0.0003	0.0051	0.0069	0.0178	0.005692	880	154602	rs2232001	0.0065	0.0064	0.0059	0.0070	0.0184	0.0063	0.0063	0.0176	0.0173	0.0011	0.0040	0.0067	0	0.0006	0.0154	0.0063	0.0060	0.0184	0.0045	0.0045	0.0045	0.0045	0.0182	0.0042	0.0041	0.0151	0.0140	0.0010	0	0.0040	0.0081	0	0.0005	0.0238	0.0065	0.0076	0.0182	.	.	.	0.0	0.92824	D	0.944	0.53183	P	0.646	0.52296	P	.	.	.	.	0.999814	0.20249	N	0	0.06538	N	0.5	0.55608	T	-3.0	0.62343	D	0.131	0.12627	-1.0447	0.15913	T	0.074	0.29802	T	9	0.004341334	0.00088	T	.	.	.	0.122	0.33800	.	.	0.239901079897	0.23603	0.008975850094908592	0.00860	0.170541867338	0.19226	.	.	.	0.070406	0.33951	T	-0.351606	0.04626	T	-0.263554	0.48469	T	0.0592529912590994	0.07050	T	0.475952	0.14261	T	0.510969	0.67735	0.38519815	0.63442	0.510969	0.67736	0.38519815	0.63442	-5.71	0.43782	T	.	.	0.203	0.42863	B	.	.	1.569430	0.20094	14.59	0.98428247229961985	0.41364	0.00689	0.02944	N	ALL	0.047722	0.08067	N	-0.397482160655906	0.25558	1.388314	-0.501278524906413	0.22119	1.199818	0.999999999999993	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	3.37	1.0	0.18999	-0.943000	0.04026	0.213000	0.15984	0.524000	0.24156	0.000000	0.06391	0.002000	0.18203	0.395000	0.26670	0.2299:0.5468:0.2234:0.0	5.599	0.16627	630	0.65016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1051.98	37	chr19	49118953	.	C	T	1051.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.634;DP=878;ExcessHet=0.0000;FS=2.858;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=0.317;SOR=0.443	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr19	49152340	49152342	CTC	-	exonic	HRC	.	nonframeshift deletion	HRC:NM_002152:exon3:c.1939_1941del:p.E647del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.975e-05	0	0.0003	0	0	1.507e-05	0	6.19e-05	3.88e-05	6	154602	rs752602394	1.437e-05	1.505e-05	1.498e-05	1.375e-05	0.0003	9.23e-06	7.84e-06	6.096e-05	2.769e-05	2.987e-05	0.0001	0	0	0	0.0003	8.094e-06	1.656e-05	3.479e-05	1.317e-05	1.314e-05	0	2.696e-05	6.555e-05	2.19e-06	8.2e-07	.	.	2.419e-05	0	6.555e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1382.94	37	chr19	49152339	.	TCTC	T	1382.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.621e+00;DP=818;ExcessHet=0.0000;FS=0.881;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.69;ReadPosRankSum=0.320;SOR=0.826	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr19	49154456	49154456	-	CATCAT	exonic	HRC	.	nonframeshift insertion	HRC:NM_002152:exon1:c.781_782insATGATG:p.D261_V262insDD,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	20926.44	44	chr19	49154453	.	ACAT	A,ACATCATCAT,ACATCAT	20926.44	.	AC=17,1,3;AF=0.405,0.024,0.071;AN=42;BaseQRankSum=0.276;DP=1607;ExcessHet=2.0051;FS=3.406;InbreedingCoeff=-0.0476;MLEAC=17,1,3;MLEAF=0.405,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=23.81;ReadPosRankSum=0.061;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:25,0,20,0:45:99:.:.:740,817,1828,0,1011,951,817,1828,1011,1828	5	4	8	0
chr19	49154456	49154456	-	CAT	exonic	HRC	.	nonframeshift insertion	HRC:NM_002152:exon1:c.781_782insATG:p.D261_V262insD,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	20926.44	44	chr19	49154453	.	ACAT	A,ACATCATCAT,ACATCAT	20926.44	.	AC=17,1,3;AF=0.405,0.024,0.071;AN=42;BaseQRankSum=0.276;DP=1607;ExcessHet=2.0051;FS=3.406;InbreedingCoeff=-0.0476;MLEAC=17,1,3;MLEAF=0.405,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=23.81;ReadPosRankSum=0.061;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:25,0,20,0:45:99:.:.:740,817,1828,0,1011,951,817,1828,1011,1828	5	4	8	0
chr19	49182889	49182889	G	A	exonic	TRPM4	.	stopgain	TRPM4:NM_001321285:exon6:c.G513A:p.W171X	Progressive familial heart block, type IB, Autosomal dominant	.	0	1513	9	0	0	9	0.0029654	.	.	243380	Progressive_familial_heart_block_type_IB|Cardiovascular_phenotype|Sudden_cardiac_death|not_specified|not_provided	MONDO:MONDO:0011474,MedGen:C1970298,OMIM:604559,Orphanet:871|MedGen:CN230736|EFO:EFO_0004278,Human_Phenotype_Ontology:HP:0001645,Human_Phenotype_Ontology:HP:0005161,MeSH:D016757,MedGen:C0085298|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	5.070	31	-0.786	0.083	0.598	4.739	.	.	0.0007	0.000399361	0.0016	0.0004	0.0006	0	0.0065	0.0019	0	0.0008	0.0013195	204	154602	rs71352737	0.0018	0.0018	0.0018	0.0018	0.0054	0.0017	0.0017	0.0039	0.0034	0.0004	0.0002	0	0	0.0051	0.0054	0.0020	0.0012	0.0005	0.0016	0.0016	0.0015	0.0018	0.0022	0.0015	0.0014	0.0020	0.0018	0.0003	0	0.0005	0.0003	0	0.0066	0	0.0022	0.0009	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.601	0.62442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.163103	0.26282	T	-0.0132297	0.69474	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	5.633348	0.92690	32	0.97466819956511719	0.34115	0.07213	0.13237	N	AEFDBI	0.048137	0.08182	N	0.0531138847885988	0.44286	2.705398	-0.37024840436156	0.25888	1.426515	6.99465648457758E-4	0.07645	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.635551	0.53088	0	.	.	3.44	-0.786	0.10394	0.670000	0.24838	0.612000	0.20040	0.657000	0.54293	0.010000	0.18352	0.031000	0.21272	0.001000	0.02609	0.1435:0.4387:0.4178:0.0	4.739	0.12378	723	0.55174	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	290.98	14	chr19	49182889	.	G	A	290.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.65;DP=592;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.03;ReadPosRankSum=0.138;SOR=0.693	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,930	20	0	1	0
chr19	49190772	49190772	G	A	exonic	TRPM4	.	nonsynonymous SNV	TRPM4:NM_001321285:exon11:c.G1147A:p.G383R	Progressive familial heart block, type IB, Autosomal dominant	.	1	1503	18	0	0	18	0.00595238	0	0.008	471078	not_specified|Hypertrophic_cardiomyopathy|not_provided|TRPM4-related_disorder|Cardiovascular_phenotype|Progressive_familial_heart_block_type_IB	MedGen:CN169374|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:C3661900|MedGen:CN239424|MedGen:CN230736|MONDO:MONDO:0011474,MedGen:C1970298,OMIM:604559,Orphanet:871	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.5	T	0.993	D	0.713	P	0.559	N	1.000	N	1.15	L	-0.23	T	-0.784	T	0.244	T	0.058	-0.119	3.417	-7.16	-1.219	-0.970	5.659	0.052	.	0.0016	0.00339457	0.0021	0.0007	0.0010	0	0	0.0017	0.0011	0.0076	0.0019663	304	154602	rs145847114	0.0019	0.0019	0.0017	0.0021	0.0080	0.0019	0.0018	0.0069	0.0067	0.0004	0.0016	0.0023	0	5.616e-05	0.0080	0.0016	0.0023	0.0073	0.0019	0.0019	0.0017	0.0020	0.0081	0.0017	0.0016	0.0061	0.0054	0.0006	0	0.0045	0.0032	0.0002	0	0.0068	0.0020	0.0024	0.0081	0.351	0.31532	T	0.383	0.44905	T	0.029	0.65571	B	0.004	0.54588	B	0.559069	0.11355	N	0.765258	0.999998	0.18198	N	1.215	0.30540	L	-0.78	0.73631	T	-0.86	0.23372	N	0.106	0.17140	-0.7843	0.56059	T	0.244	0.61272	T	10	0.0053512156	0.00158	T	.	.	.	0.052	0.14661	0.207	0.12356	0.414021929199	0.41020	0.29411502003148443	0.29324	0.341058034284	0.36042	0.426400899887	0.28717	T	0.113814	0.43114	T	-0.560977	0.00250	T	-0.574995	0.14994	T	0.0012355460696675	0.00012	T	0.631737	0.24648	T	0.055500925	0.10794	0.04793476	0.07013	0.07357339	0.16450	0.06681196	0.13737	-4.552	0.31563	T	.	.	0.080	0.07985	B	.;.	.;.	-0.448845	0.02037	0.184	0.38968747206885496	0.02660	0.00947	0.03649	N	AEFDBI	0.035433	0.04561	N	-1.65416017566898	0.01017	0.04411651	-1.80202939046551	0.00752	0.03355292	0.0736113551052467	0.15640	0.615465	0.37627	0	0.578056	0.33634	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	3.82	-7.16	0.01364	-0.841000	0.04467	-0.546000	0.08555	-0.890000	0.02392	0.001000	0.13787	0.000000	0.08366	0.246000	0.23158	0.505:0.2724:0.2225:0.0	5.659	0.16932	744	0.52588	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4123.11	203	chr19	49190772	.	G	A	4123.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.23;DP=1068;ExcessHet=0.1072;FS=3.563;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=1.06;SOR=0.520	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1372	19	0	2	0
chr19	49200318	49200318	C	-	exonic	TRPM4	.	frameshift deletion	TRPM4:NM_001321285:exon13:c.1602delC:p.H535Tfs*35	Progressive familial heart block, type IB, Autosomal dominant	.	1	1517	4	0	0	4	0.00131666	.	.	410647	Progressive_familial_heart_block_type_IB|Erythrokeratodermia_variabilis_et_progressiva_6|Cardiovascular_phenotype|not_provided|Long_QT_syndrome	MONDO:MONDO:0011474,MedGen:C1970298,OMIM:604559,Orphanet:871|MONDO:MONDO:0032801,MedGen:C5193144,OMIM:618531|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0042	.	0.0001	0	0	0	0	0.0002	0	6.056e-05	0.00011	17	154602	rs1064796006	0.0002	0.0002	0.0002	0.0001	0.0012	0.0002	0.0001	0.0006	0.0004	0	0	0	0	0	0.0012	0.0002	0.0001	3.478e-05	0.0001	0.0001	0.0002	6.726e-05	0.0002	8.175e-05	6.73e-05	0.0001	0.0001	4.82e-05	0	6.552e-05	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2899.94	36	chr19	49200317	.	AC	A	2899.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.274e+00;DP=837;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.57;ReadPosRankSum=0.071;SOR=0.667	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1340	20	0	1	0
chr19	49375018	49375018	G	A	exonic	DKKL1	.	nonsynonymous SNV	DKKL1:NM_001197301:exon4:c.G626A:p.R209Q	.	.	425	1089	8	0	0	8	0.00365965	.	.	705156	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.006	B	0.002	B	0.082	N	0.999	N	-0.55	N	2.77	T	-0.934	T	0.004	T	0.094	-1.486	0.018	1.65	0.300	0.646	5.024	0.032	.	0.0054	0.0111821	0.0045	0.0156	0.0058	0	0	0.0045	0.0138	0.0003	0.0042237	653	154602	rs35389403	0.0028	0.0028	0.0028	0.0028	0.0122	0.0027	0.0027	0.0108	0.0105	0.0118	0.0069	0.0432	5.063e-05	0.0002	0.0122	0.0015	0.0081	0.0002	0.0071	0.0071	0.0072	0.0069	0.0131	0.0067	0.0066	0.0122	0.0119	0.0131	0	0.0108	0.0504	0	0	0.0544	0.0022	0.0109	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.002	0.06944	B	0.082476	0.20807	N	0.352414	0.999269	0.21436	N	-0.59	0.02258	N	1.57	0.29342	T	-0.32	0.12283	N	0.031	0.01498	-0.9336	0.43605	T	0.004	0.01365	T	10	0.0026714802	0.00041	T	.	.	.	0.032	0.07718	.	.	0.0138822411134	0.00435	0.03051124166725033	0.03000	0.165292297441	0.18646	0.192946910858	0.00281	T	0.003347	0.25599	T	-0.641296	0.00082	T	-0.682278	0.06846	T	0.00064861538395269	0.00006	T	0.758424	0.38228	T	0.027409965	0.01928	0.03085255	0.01594	0.027409965	0.01928	0.03085255	0.01594	-3.564	0.17338	T	.	.	0.068	0.08465	B	.;.	.;.	0.816049	0.11871	8.437	0.19125495172695153	0.00632	0.02618	0.07200	N	AEFBI	0.043410	0.06858	N	-1.08475150517021	0.06924	0.3201187	-0.92792728919388	0.11436	0.5826139	1.66871643586969E-5	0.02871	0.656854	0.48797	0	0.573888	0.26702	0	0.67347	0.61138	0	0.542086	0.14980	0	.	.	3.74	1.65	0.23015	0.741000	0.25870	2.806000	0.34880	-0.116000	0.14526	0.970000	0.34288	1.000000	0.68203	0.024000	0.12247	0.7378:0.0:0.2622:0.0	5.024	0.13716	767	0.49651	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	722.98	38	chr19	49375018	.	G	A	722.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.819;DP=777;ExcessHet=0.0000;FS=5.221;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.03;ReadPosRankSum=-9.230e-01;SOR=1.671	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1114	20	0	1	0
chr19	49463885	49463885	G	A	exonic	ALDH16A1	.	nonsynonymous SNV	ALDH16A1:NM_001145396:exon8:c.G977A:p.R326H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.927	P	0.224	B	0.530	N	1.000	N	0	N	-0.99	T	-1.004	T	0.089	T	0.11	0.528	6.862	1.62	0.173	0.392	10.262	0.204	0.0159308885237	0.0029	0.00199681	0.0008	0.0087	8.64e-05	0	0	0	0	0.0003	0.0006856	106	154602	rs113108384	0.0002	0.0002	0.0002	0.0002	0.0071	0.0002	0.0002	0.0064	0.0061	0.0071	0.0003	0	0	0	0.0003	8.996e-06	0.0003	0.0004	0.0022	0.0022	0.0022	0.0021	0.0074	0.0020	0.0019	0.0068	0.0065	0.0074	0	0.0010	0	0	0	0	2.943e-05	0.0014	0.0002	0.014	0.54683	D	0.218	0.26066	T	0.927	0.51527	P	0.224	0.37970	B	0.530368	0.11645	N	0.803175	1	0.08975	N	0.345	0.11182	N	-0.99	0.75911	T	-0.23	0.10656	N	0.141	0.16864	-1.0040	0.28755	T	0.089	0.34243	T	10	0.0059390366	0.00133	T	0.015931	0.36930	T	0.204	0.49076	.	.	0.284150004643	0.28039	0.6794850944113203	0.67887	0.0878513026773	0.09920	0.297228455544	0.09989	T	0.09191	0.49492	T	-0.458279	0.01008	T	-0.425795	0.30414	T	0.00957876851159017	0.00124	T	0.431557	0.11736	T	0.06437559	0.13653	0.041652977	0.04782	0.06437559	0.13652	0.041652977	0.04782	-5.657	0.43309	T	.	.	0.062	0.01884	B	.;.;.	.;.;.	2.331660	0.29866	18.26	0.95212634333105972	0.26421	0.03270	0.08308	N	AEFBI	0.070205	0.13927	N	-1.05363209796568	0.07516	0.3494253	-1.1067385654398	0.07571	0.3687699	0.592413533345831	0.21657	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.02	1.62	0.22817	0.988000	0.29216	4.353000	0.43094	-0.189000	0.09497	0.542000	0.27283	1.000000	0.68203	0.022000	0.11911	0.2538:0.0:0.7462:0.0	10.262	0.42611	799	0.44747	Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1409.98	36	chr19	49463885	.	G	A	1409.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.290e+00;DP=957;ExcessHet=0.0000;FS=1.151;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.23;ReadPosRankSum=-1.612e+00;SOR=0.598	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1162	20	0	1	0
chr19	49539123	49539123	C	A	exonic	RCN3	.	nonsynonymous SNV	RCN3:NM_020650:exon5:c.C623A:p.T208N,	.	.	420	1098	2	0	2	4	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.998	D	0.000	D	1.000	D	3.805	H	0.51	T	0.210	D	0.496	T	0.485	5.081	31	5.62	2.642	7.273	18.440	0.429	0.0632501554934	.	0.00139776	0.0008	0	0	0	0	1.528e-05	0.0023	0.0062	0.0006404	99	154602	rs146820947	0.0004	0.0004	0.0002	0.0006	0.0063	0.0004	0.0004	0.0059	0.0057	3.036e-05	0	0	0	0	0.0005	1.354e-05	0.0003	0.0063	0.0003	0.0003	0.0001	0.0005	0.0093	0.0002	0.0002	0.0072	0.0064	0	0	0	0	0	0	0	0	0	0.0093	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.735	0.94896	H	0.51	0.55439	T	-4.79	0.80595	D	0.638	0.65074	0.210	0.86076	D	0.496	0.80898	T	10	0.016086698	0.00338	T	0.06325	0.68910	D	0.429	0.73590	0.509	0.60540	0.828220907165	0.82659	0.8560512115026256	0.85568	0.143643508487	0.16218	0.710219860077	0.68626	T	0.04416	0.26730	T	-0.297343	0.08912	T	-0.198936	0.54747	T	0.282199269112914	0.24264	T	0.975769	0.91515	D	0.8890181	0.90423	0.80407566	0.88526	0.8890181	0.90424	0.80407566	0.88527	-13.102	0.89778	D	.	.	0.902	0.82891	P	.	.	4.585776	0.72484	25.8	0.9943878319814371	0.64670	0.99612	0.97981	D	AEFBI	0.878990	0.80461	D	1.01679493174289	0.96238	14.45877	0.938472833945389	0.97041	15.50372	0.999999999999984	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	2.970000	0.48932	7.118000	0.57587	0.599000	0.40250	0.987000	0.36337	1.000000	0.68203	0.899000	0.43558	0.0:1.0:0.0:0.0	18.440	0.90611	846	0.36215	EF-hand domain|EF-hand domain|EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	703.98	34	chr19	49539123	.	C	A	703.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=0.519;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1018	20	0	1	0
chr19	49597448	49597459	CGCCACCACCCC	-	exonic	PRR12	.	nonframeshift deletion	PRR12:NM_020719:exon4:c.3113_3124del:p.P1046_P1049del,	.	.	.	.	.	.	.	.	.	.	.	2818590	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs938252556	2.163e-06	2.052e-06	1.423e-06	2.923e-06	5.622e-05	5.8e-07	1.6e-07	9.31e-06	3.48e-06	0	5.622e-05	0	0	0	0	9.279e-07	0	0	6.578e-06	6.564e-06	0	1.346e-05	2.41e-05	0	0	.	.	2.41e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2204.94	44	chr19	49597447	.	GCGCCACCACCCC	G	2204.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.050e-01;DP=921;ExcessHet=0.0000;FS=0.621;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.90;ReadPosRankSum=1.55;SOR=0.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,100,1080	20	0	1	0
chr19	49616159	49616159	G	A	exonic	PRR12	.	nonsynonymous SNV	PRR12:NM_020719:exon9:c.G5437A:p.G1813R,	.	.	412	1099	11	0	0	11	0.00497963	.	.	2818598	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.24	T	0.001	B	0.002	B	0.056	N	0.999	N	0.69	N	.	.	-1.091	T	0.061	T	0.249	2.091	12.95	3.72	2.507	1.728	7.149	0.035	0.00523459104631	.	0.000399361	0.0014	0	0.0017	0	0	0.0007	0	0.0035	0.0004204	65	154602	rs575045686	0.0004	0.0004	0.0004	0.0005	0.0048	0.0004	0.0004	0.0034	0.0029	3.112e-05	0.0004	0	2.724e-05	0	0.0048	0.0003	0.0004	0.0021	0.0003	0.0003	0.0002	0.0004	0.0023	0.0002	0.0002	0.0013	0.0010	2.406e-05	0	0.0004	0	0	0	0	0.0004	0.0009	0.0023	0.181	0.21884	T	0.138	0.37589	T	0.001	0.07471	B	0.002	0.06944	B	0.056254	0.22575	N	0.325941	0.999494	0.21100	N	0.69	0.16971	N	.	.	.	-1.32	0.32991	N	0.231	0.25989	-1.0909	0.05383	T	0.061	0.25635	T	9	0.009221971	0.00208	T	0.005235	0.13341	T	0.035	0.08770	0.268	0.21576	0.0934897674506	0.08844	0.5002204742617575	0.49943	1.15477031298	0.79331	0.653204441071	0.60441	T	0.007512	0.06912	T	-0.463009	0.00941	T	-0.443715	0.28393	T	0.0362889213210903	0.03032	T	0.727427	0.36376	T	0.06152916	0.12751	0.08645577	0.20030	0.06152916	0.12751	0.08645577	0.20030	.	.	.	.	.	0.231	0.52102	B	.;.	.;.	4.251278	0.64538	24.7	0.99722372962702299	0.82125	0.79106	0.39137	D	AEFBI	0.106450	0.21238	N	-0.38024584700704	0.26174	1.426465	-0.251383694461775	0.29724	1.667626	0.00124049920714649	0.08362	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.81	3.72	0.41857	0.667000	0.24794	7.176000	0.57738	0.526000	0.24426	0.086000	0.22486	1.000000	0.68203	0.291000	0.24285	0.1237:0.0:0.8763:0.0	7.149	0.24776	759	0.50631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	600.98	36	chr19	49616159	.	G	A	600.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=794;ExcessHet=0.0000;FS=3.361;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.46;ReadPosRankSum=-5.750e-01;SOR=1.143	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1066	20	0	1	0
chr19	49650933	49650933	G	A	exonic	SCAF1	.	nonsynonymous SNV	SCAF1:NM_021228:exon7:c.G544A:p.G182R,	.	.	255	1253	13	1	0	15	0.00595002	.	.	2818601	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.779	P	0.17	B	0.337	N	0.717	N	0.695	N	0.32	T	-0.946	T	0.071	T	0.323	1.758	11.84	3.36	1.200	2.271	6.273	0.071	.	0.0039	0.00179712	0.0046	0.0008	0.0050	0	0.0002	0.0068	0.0142	0.0004	0.0036222	560	154602	rs151252460	0.0048	0.0048	0.0049	0.0047	0.0055	0.0047	0.0047	0.0054	0.0053	0.0007	0.0046	0.0082	0	0.0005	0.0054	0.0055	0.0053	0.0004	0.0038	0.0038	0.0043	0.0032	0.0059	0.0035	0.0034	0.0054	0.0052	0.0009	0	0.0047	0.0095	0.0002	0.0002	0.0136	0.0059	0.0081	0.0006	0.002	0.72154	D	0.026	0.60972	D	0.779	0.44223	P	0.17	0.35299	B	0.336684	0.14028	N	0.590962	0.71728	0.29956	N	0.895	0.22405	L	0.32	0.58468	T	-1.98	0.45769	N	0.445	0.48319	-0.9460	0.41648	T	0.071	0.28904	T	10	0.0059126616	0.00132	T	.	.	.	0.071	0.20720	0.077	0.00572	0.0934897674506	0.08844	0.39125950514669	0.39040	0.757114592108	0.64062	0.814242839813	0.84143	D	0.055653	0.38075	T	-0.393496	0.02553	T	-0.336226	0.40771	T	0.0188284109681169	0.00594	T	0.592841	0.27207	T	0.05987651	0.12222	0.10397457	0.24959	0.05987651	0.12221	0.10397457	0.24959	-3.665	0.18803	T	.	.	0.828	0.78651	P	.;.	.;.	3.602036	0.50884	23.0	0.97351008131913874	0.33525	0.83855	0.42948	D	AEFDBI	0.232352	0.35544	N	0.0292853091401313	0.43191	2.616856	0.0945200372206351	0.44272	2.71224	0.956820904971459	0.28268	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.42	3.36	0.37579	1.238000	0.32310	5.272000	0.48155	0.648000	0.52827	0.999000	0.42656	1.000000	0.68203	0.973000	0.55318	0.1004:0.1904:0.7092:0.0	6.273	0.20175	783	0.47268	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1504.98	33	chr19	49650933	.	G	A	1504.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.857;DP=830;ExcessHet=0.0000;FS=0.689;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=-8.030e-01;SOR=0.591	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1284	20	0	1	0
chr19	49651191	49651193	GAG	-	exonic	SCAF1	.	nonframeshift deletion	SCAF1:NM_021228:exon7:c.802_804del:p.E282del,	.	.	374	1145	1	0	2	3	0.000436491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	1.362e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1323.94	35	chr19	49651190	.	TGAG	T	1323.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.275;DP=844;ExcessHet=0.0000;FS=1.821;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.22;ReadPosRankSum=0.420;SOR=1.003	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,117,1347	20	0	1	0
chr19	49651512	49651512	G	A	exonic	SCAF1	.	nonsynonymous SNV	SCAF1:NM_021228:exon7:c.G1123A:p.G375S,	.	.	417	1104	1	0	0	1	0.000452694	.	.	3316975	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.011	B	0.015	B	0.233	N	1.000	N	0.805	L	1.12	T	-1.050	T	0.060	T	0.182	1.929	12.41	1.95	0.869	2.048	5.473	0.008	0.229150613755	.	0.000199681	0.0004	0	0	0	0	0.0004	0	0.0008	0.0001552	24	154602	rs572089161	0.0002	0.0002	0.0001	0.0002	0.0013	0.0002	0.0002	0.0006	0.0006	0	0.0002	0.0010	0	0	0.0013	0.0001	0.0003	0.0008	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	9.732e-05	0.0002	0.0001	4.828e-05	0	6.548e-05	0.0009	0	0	0	0.0002	0	0.0006	0.005	0.63226	D	0.433	0.13595	T	0.011	0.15914	B	0.015	0.17295	B	0.232996	0.15878	N	0.526148	1	0.08975	N	0.805	0.20218	L	1.12	0.38718	T	-0.65	0.18877	N	0.231	0.25989	-1.0496	0.14509	T	0.060	0.24981	T	9	0.02151668	0.00516	T	0.229151	0.88171	D	0.008	0.00669	.	.	0.0675242888579	0.06100	0.28996675754906764	0.28909	0.628977153861	0.56955	0.876125812531	0.93432	D	0.025432	0.19020	T	-0.450458	0.01122	T	-0.497816	0.22574	T	0.0425427037674954	0.04154	T	0.511749	0.16382	T	0.051017817	0.09307	0.05866094	0.10878	0.051017817	0.09307	0.05866094	0.10877	-3.92	0.22602	T	.	.	0.082	0.08851	B	.	.	2.271346	0.29029	17.99	0.87114068048166138	0.16998	0.39815	0.26297	N	AEFDBI	0.101416	0.20370	N	-0.69676448409675	0.16114	0.8181229	-0.670036593030106	0.17712	0.9429877	0.550870969481843	0.21333	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.47	1.95	0.25130	2.452000	0.44619	2.721000	0.34312	0.590000	0.31872	0.991000	0.37257	0.998000	0.33993	0.235000	0.22869	0.12:0.0:0.6916:0.1884	5.473	0.15975	783	0.47268	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	463.98	38	chr19	49651512	.	G	A	463.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.070e-01;DP=764;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=-1.918e+00;SOR=0.704	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1386	20	0	1	0
chr19	49652713	49652713	G	A	exonic	SCAF1	.	nonsynonymous SNV	SCAF1:NM_021228:exon7:c.G2324A:p.G775E,	.	.	265	1247	10	0	0	10	0.00399361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	B	0.004	B	0.209	N	1.000	N	-0.205	N	1.64	T	-1.020	T	0.016	T	0.176	0.808	8.245	-3.07	-0.189	1.742	2.432	0.039	0.0303033595875	0.0007	0.000998403	0.0031	0.0007	0.0022	0	0.0039	0.0031	0.0065	0.0045	0.0009508	147	154602	rs182682442	0.0010	0.0010	0.0009	0.0011	0.0030	0.0009	0.0009	0.0027	0.0025	0.0005	0.0006	7.802e-05	2.619e-05	0.0010	0.0028	0.0009	0.0010	0.0030	0.0010	0.0010	0.0010	0.0010	0.0031	0.0009	0.0008	0.0019	0.0015	0.0002	0.0175	0.0011	0	0	0.0009	0	0.0013	0.0014	0.0031	0.017	0.51248	D	0.489	0.11586	T	0.005	0.12996	B	0.004	0.10090	B	0.209092	0.16409	N	0.445392	1	0.08975	N	0	0.06538	N	1.64	0.27822	T	-1.08	0.28084	N	0.254	0.28732	-1.0202	0.23649	T	0.016	0.06425	T	9	0.00406155	0.00079	T	0.030303	0.52646	D	0.039	0.10176	.	.	0.043077524339	0.03247	0.05533791047632273	0.05474	0.820147628991	0.67127	0.750120520592	0.74464	T	0.023764	0.18084	T	-0.560982	0.00250	T	-0.581953	0.14371	T	0.00361394179660227	0.00038	T	0.49875	0.15541	T	0.0573767	0.11411	0.06755219	0.13991	0.0573767	0.11411	0.06755219	0.13990	-4.766	0.34192	T	.	.	0.334	0.55508	B	.	.	2.210627	0.28203	17.72	0.96242393558321571	0.29154	0.24372	0.22373	N	AEFDGBI	0.071491	0.14234	N	-1.08199010070539	0.06975	0.3226574	-1.04895430595164	0.08729	0.4305904	0.889282149890082	0.25809	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.03	-3.07	0.05038	0.208000	0.17212	2.016000	0.30187	-0.148000	0.12190	0.006000	0.17386	1.000000	0.68203	0.974000	0.55675	0.0982:0.2786:0.341:0.2822	2.432	0.04200	783	0.47268	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1388.98	36	chr19	49652713	.	G	A	1388.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=879;ExcessHet=0.0000;FS=4.785;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.08;ReadPosRankSum=-6.620e-01;SOR=0.354	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,103,1045	20	0	1	0
chr19	49653452	49653454	GGA	-	exonic	SCAF1	.	nonframeshift deletion	SCAF1:NM_021228:exon7:c.3063_3065del:p.E1039del,	.	.	401	1117	1	0	3	4	0.000447427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0487	.	0.0093	0.0086	0.0119	0.0080	0.0053	0.0090	0.0057	0.0122	0.0001537	4	26028	rs765192224	0.0008	0.0088	0.0007	0.0010	0.0041	0.0008	0.0008	0.0036	0.0034	0.0009	0.0041	0.0014	0.0013	0.0021	0.0004	0.0006	0.0010	0.0018	5.938e-05	9.204e-05	5.156e-05	6.757e-05	0.0002	3.089e-05	2.218e-05	3.262e-05	1.923e-05	9.707e-05	0	0	0	0.0002	0	0	5.894e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	30.94	36	chr19	49653451	.	CGGA	C	30.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.088e+00;DP=857;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.69;ReadPosRankSum=1.62;SOR=0.648	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,103,1045	20	0	1	0
chr19	49659696	49659696	C	T	exonic	IRF3	.	nonsynonymous SNV	IRF3:NM_001197122:exon8:c.G1252A:p.A418T,	.	.	417	1088	17	0	0	17	0.00775194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0990043704477	0.0006	0.000599042	0.0009	0	0.0008	0	0	0.0009	0	0.0024	0.0007827	121	154602	rs141490768	0.0006	0.0006	0.0006	0.0006	0.0061	0.0006	0.0006	0.0045	0.0039	5.974e-05	0.0008	0.0012	0	0	0.0061	0.0005	0.0008	0.0019	0.0006	0.0006	0.0006	0.0006	0.0027	0.0005	0.0005	0.0016	0.0013	9.633e-05	0	0.0011	0.0012	0	0	0.0102	0.0007	0.0009	0.0027	.	.	.	0.849	0.03517	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-4.42	0.98183	D	.	.	.	0.08	0.08088	.	.	.	.	.	.	.	0.00934276	0.00211	T	0.099004	0.77036	D	.	.	.	.	0.997809601061	0.99778	0.12079864673696854	0.12006	0.709368004076	0.61626	0.259905189276	0.04880	T	0.010685	0.09625	T	-0.211879	0.19114	T	-0.0832929	0.64662	T	.	.	.	0.321068	0.08182	T	.	.	.	.	.	.	.	.	-4.709	0.33513	T	.	.	0.087	0.35829	B	.;.;.	.;.;.	-0.087595	0.03715	0.762	0.81608462009875571	0.13770	0.76696	0.37636	D	ALL	0.080190	0.16208	N	.	.	.	.	.	.	0.999810827222841	0.43459	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.46	-5.76	0.02183	-0.175000	0.09816	-0.046000	0.12607	-0.313000	0.06017	0.884000	0.31069	0.471000	0.25053	0.705000	0.34296	0.1064:0.4035:0.2844:0.2057	2.835	0.05172	819	0.41190	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1289.98	36	chr19	49659696	.	C	T	1289.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.230e-01;DP=860;ExcessHet=0.0000;FS=1.766;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.33;ReadPosRankSum=-3.760e-01;SOR=0.484	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr19	49865203	49865203	C	T	exonic	PNKP	.	nonsynonymous SNV	PNKP:NM_007254:exon4:c.G422A:p.R141Q,	Ataxia-oculomotor apraxia 4, Autosomal recessive;Microcephaly, seizures, and developmental delay, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	203610	not_provided|Developmental_and_epileptic_encephalopathy,_12|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.65	T	0.323	B	0.039	B	0.456	N	1.000	N	1.1	L	0.95	T	-1.074	T	0.072	T	0.407	0.704	7.756	4.12	2.297	2.321	12.014	0.070	0.0202145456815	.	0.000199681	0.0001	0	8.661e-05	0	0	3.008e-05	0	0.0009	0.0001229	19	154602	rs570013652	9.235e-05	9.235e-05	5.309e-05	0.0001	0.0012	7.958e-05	7.431e-05	0.0010	0.0010	0	0	0	2.519e-05	0	0.0002	2.158e-05	6.623e-05	0.0012	3.282e-05	3.28e-05	2.569e-05	4.027e-05	0.0008	1.26e-05	7.97e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.47e-05	0	0.0008	0.361	0.11882	T	0.261	0.22962	T	0.182	0.29148	B	0.023	0.19966	B	0.456163	0.12447	N	0.688017	0.999999	0.08975	N	2.56	0.74772	M	0.66	0.52416	T	0.0	0.07008	N	0.434	0.47301	-1.0736	0.08639	T	0.072	0.29259	T	10	0.02307123	0.00593	T	0.020215	0.42769	T	0.070	0.20419	0.304	0.27325	0.494165489436	0.49052	0.3349458067103662	0.33407	0.141977382517	0.16002	0.41095867753	0.26590	T	0.018728	0.24335	T	-0.36716	0.03741	T	-0.345728	0.39693	T	0.0383052167266601	0.03386	T	0.951205	0.84033	D	0.104442835	0.24689	0.055586793	0.09779	0.078177765	0.17788	0.053364135	0.08975	-9.886	0.73226	D	0.11294136288218565	0.09827	0.087	0.19879	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.690266	0.52580	23.3	0.97905143121443994	0.36773	0.34973	0.25193	N	AEFDGBI	0.109861	0.21806	N	-0.439222807868307	0.24106	1.299346	-0.373768160179192	0.25781	1.419945	0.999999993332086	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.696144	0.63334	0	0.735409	0.98432	0	.	.	4.12	4.12	0.47504	2.119000	0.41582	4.751000	0.44659	0.599000	0.40250	0.567000	0.27481	1.000000	0.68203	0.467000	0.28274	0.0:1.0:0.0:0.0	12.014	0.52596	594	0.68584	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1867.98	47	chr19	49865203	.	C	T	1867.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.27;DP=980;ExcessHet=0.0000;FS=3.792;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=1.04;SOR=0.454	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1147	20	0	1	0
chr19	49889673	49889673	A	T	exonic	IL4I1	.	nonsynonymous SNV	IL4I1:NM_001385639:exon8:c.T1590A:p.H530Q	.	.	424	1096	1	1	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.021	B	0.006	B	.	.	1.000	N	0.345	N	1.53	T	-1.017	T	0.039	T	0.216	2.008	12.67	-2.5	-0.665	1.278	7.686	0.084	0.0239828868381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.009e-06	2.736e-06	2.933e-06	3.089e-06	3.824e-06	7e-07	4.8e-07	9e-07	6e-07	0	0	0	0	0	0	3.824e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.57480	D	0.019	0.61642	D	0.003	0.18474	B	0.002	0.12133	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.53	0.31731	T	-1.27	0.31981	N	0.169	0.17966	-1.0174	0.24560	T	0.039	0.16978	T	9	0.08257532	0.13645	T	0.023983	0.46960	T	0.084	0.24469	0.168	0.07302	0.0297737177859	0.01360	0.42910966158426445	0.42827	1.43871519606	0.85933	0.337653070688	0.16086	T	0.144977	0.48187	T	-0.214407	0.18763	T	-0.545757	0.17735	T	0.109401460489958	0.13361	T	0.249275	0.03729	T	0.12735322	0.29803	0.17029406	0.39127	0.12735322	0.29803	0.17029406	0.39126	-3.077	0.11319	T	.	.	0.076	0.07793	B	.;.;.	.;.;.	2.466778	0.31786	18.85	0.87569305785542306	0.17322	0.32680	0.24644	N	AEGBCI	0.061127	0.11665	N	-0.938411700697504	0.09955	0.4734603	-0.969579711767672	0.10473	0.5276589	0.999999184443986	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.596491	0.31596	0	0.699875	0.68795	0	.	.	3.09	-2.5	0.06015	1.312000	0.33179	2.824000	0.34981	0.740000	0.86194	0.989000	0.36753	1.000000	0.68203	0.565000	0.30531	0.348:0.0:0.0:0.652	7.686	0.27704	633	0.64743	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1581.98	33	chr19	49889673	.	A	T	1581.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.700e-01;DP=863;ExcessHet=0.0000;FS=1.346;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.08;ReadPosRankSum=1.61;SOR=0.557	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1297	20	0	1	0
chr19	49889804	49889804	T	C	exonic	IL4I1	.	nonsynonymous SNV	IL4I1:NM_001385639:exon8:c.A1459G:p.M487V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.001	B	0.000	U	1.000	N	0	N	1.66	T	-1.010	T	0.014	T	0.029	-0.547	1.521	-6.95	-2.015	-0.360	3.706	0.041	.	0.0068	0.00678914	0.0021	0.0218	0.0011	0	0	4.756e-05	0	0	0.001837	284	154602	rs113830574	0.0006	0.0006	0.0006	0.0006	0.0213	0.0006	0.0006	0.0200	0.0194	0.0213	0.0012	0	0	0	0.0009	4.172e-05	0.0015	5.198e-05	0.0067	0.0067	0.0067	0.0067	0.0234	0.0063	0.0062	0.0221	0.0216	0.0234	0	0.0023	0	0	0	0	2.941e-05	0.0038	0	0.625	0.05229	T	0.482	0.11829	T	0.001	0.09854	B	0.0	0.04355	B	0.000006	0.00162	U	767.443000	1	0.08975	N	-0.345	0.03330	N	1.66	0.27650	T	-0.25	0.11008	N	0.089	0.06720	-1.0105	0.26760	T	0.014	0.05369	T	10	0.0030534565	0.00050	T	.	.	.	0.041	0.10877	.	.	0.0138822411134	0.00435	0.7965805998128296	0.79611	1.04424032132	0.75900	0.219934567809	0.01306	T	0.087313	0.37914	T	-0.739252	0.00021	T	-0.816407	0.01526	T	0.00319421367100959	0.00034	T	0.316468	0.06291	T	0.06776504	0.14705	0.052241318	0.08568	0.06776504	0.14704	0.052241318	0.08567	-2.567	0.07455	T	.	.	0.060	0.01271	B	.;.;.	.;.;.	-0.296489	0.02632	0.332	0.41451891657363621	0.02992	0.03718	0.09006	N	AEFGBHCI	0.069216	0.13690	N	-1.68936116222601	0.00880	0.03808619	-1.77633578610355	0.00838	0.03743223	0.999999999227736	0.74766	0.656854	0.48797	0	0.672317	0.65289	0	0.606884	0.38211	0	0.699908	0.69081	0	.	.	3.47	-6.95	0.01470	0.308000	0.19071	0.253000	0.16451	0.347000	0.19874	0.005000	0.17040	0.002000	0.18203	0.003000	0.05239	0.1244:0.2133:0.5059:0.1564	3.706	0.07931	633	0.64743	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1438.98	33	chr19	49889804	.	T	C	1438.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.510e+00;DP=849;ExcessHet=0.0000;FS=0.645;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.35;ReadPosRankSum=-2.500e-01;SOR=0.812	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1297	20	0	1	0
chr19	49894438	49894438	G	A	exonic	IL4I1	.	nonsynonymous SNV	IL4I1:NM_001385639:exon5:c.C286T:p.L96F	.	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	0.955	D	3.045	M	2.55	T	-0.787	T	0.132	T	0.547	3.548	18.10	5.24	2.462	2.777	14.309	0.261	0.0320379255106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.72154	D	0.008	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000211	0.47681	D	0.137965	0.955112	0.37910	D	2.865	0.83145	M	2.55	0.13795	T	-3.26	0.65397	D	0.48	0.51494	-0.7875	0.55875	T	0.132	0.44386	T	10	0.8664882	0.85895	D	0.032038	0.53969	D	0.261	0.57352	0.849	0.95143	0.323342291347	0.31936	0.8784309327399817	0.87810	1.32933111588	0.83621	0.463100522757	0.33736	T	0.855844	0.96759	D	-0.0800425	0.39708	T	-0.352752	0.38889	T	0.984304964542389	0.75659	D	0.783222	0.41972	T	0.6524065	0.75492	0.6631823	0.80258	0.6524065	0.75494	0.6631823	0.80258	-9.18	0.68849	D	.	.	0.507	0.69464	A	.;.;.;.	.;.;.;.	4.555527	0.71734	25.7	0.99886809028036216	0.96204	0.73257	0.35836	D	AEFGBCI	0.267405	0.38411	N	0.688318699043721	0.78867	6.959	0.601578181357427	0.75056	6.243213	0.999999994069406	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.603688	0.36954	0	0.655142	0.61905	0	.	.	5.24	5.24	0.72863	2.082000	0.41230	11.635000	0.93737	0.618000	0.50648	0.992000	0.37556	1.000000	0.68203	0.845000	0.39915	0.0:0.0:1.0:0.0	14.309	0.65958	632	0.64850	Amine oxidase;.;.;Amine oxidase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	998.98	40	chr19	49894438	.	G	A	998.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.870e-01;DP=802;ExcessHet=0.0000;FS=0.843;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=-6.130e-01;SOR=0.569	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1292	20	0	1	0
chr19	49952338	49952338	C	T	exonic	SIGLEC11	.	nonsynonymous SNV	SIGLEC11:NM_001135163:exon8:c.G1420A:p.A474T	.	.	.	.	.	.	.	.	.	.	.	2227453	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.78	T	0.002	B	0.004	B	0.723	N	1.000	N	-0.825	N	3.94	T	-0.907	T	0.004	T	0.232	-1.273	0.044	-5.47	-0.959	-2.487	5.284	0.011	0.00176978189825	.	.	5.906e-05	0	0	0.0005	0	4.627e-05	0	0	4.53e-05	7	154602	rs767835963	4.387e-05	4.925e-05	5.184e-05	3.581e-05	0.0002	3.515e-05	3.199e-05	0.0001	8.775e-05	0	0	0	0.0002	0	0	4.497e-05	4.969e-05	2.319e-05	2.629e-05	2.627e-05	1.285e-05	4.037e-05	4.411e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.414e-05	0	0	0	0	0	0	4.411e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.09854	B	0.0	0.10090	B	0.722863	0.06324	N	1.150620	1	0.08975	N	-0.87	0.01450	N	3.94	0.03408	T	1.92	0.00446	N	0.121	0.15328	-0.9072	0.47191	T	0.004	0.01226	T	10	0.022891521	0.00584	T	0.00177	0.03012	T	0.011	0.01250	.	.	0.0297737177859	0.01360	0.10781458558013499	0.10710	0.0110152575662	0.01025	0.353952050209	0.18502	T	0.001191	0.00692	T	-0.571543	0.00217	T	-0.716027	0.04990	T	0.763564348220825	0.44058	D	0.145485	0.02126	T	0.027394747	0.01926	0.052383944	0.08618	0.027394747	0.01925	0.052383944	0.08617	-0.58	0.00866	T	.	.	0.080	0.09433	B	.;.	.;.	-1.512068	0.00288	0.005	0.56225308445197986	0.05507	0.00212	0.01206	N	AEFBI	0.031892	0.03496	N	-1.98469269882474	0.00228	0.009777389	-2.01041389909642	0.00291	0.01285487	0.963774908508222	0.28714	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	3.21	-5.47	0.02396	-1.857000	0.01752	-20.000000	0.00162	-3.768000	0.00061	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3937:0.1508:0.4555	5.284	0.15000	693	0.58582	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	992.98	38	chr19	49952338	.	C	T	992.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.970;DP=770;ExcessHet=0.0000;FS=0.880;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=0.676;SOR=0.919	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1309	20	0	1	0
chr19	49960123	49960135	CAGGCCACACTCA	-	splicing	SIGLEC11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0079	.	0.0002	0	0.0003	0	0	0.0004	0	0	7.68e-05	2	26028	rs756941705	0.0010	0.0010	0.0010	0.0010	0.0014	0.0009	0.0009	0.0011	0.0010	0.0003	0.0014	0.0007	0.0001	4.316e-05	0.0013	0.0011	0.0015	0.0002	0.0010	0.0011	0.0010	0.0010	0.0024	0.0009	0.0008	0.0017	0.0015	0.0003	0	0.0024	0.0009	0.0004	0	0	0.0014	0.0026	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1161.12	10	chr19	49960122	.	CCAGGCCACACTCA	C	1161.12	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.411;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0320;MLEAC=1;MLEAF=0.024;MQ=36.15;MQRankSum=-2.810e-01;QD=11.16;ReadPosRankSum=-2.970e-01;SOR=0.723	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr19	49960686	49960686	G	T	exonic	SIGLEC11	.	nonsynonymous SNV	SIGLEC11:NM_001135163:exon2:c.C326A:p.P109H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.999	D	0.070	N	1.000	N	3.155	M	1.97	T	-0.831	T	0.237	T	0.304	2.268	13.54	2.24	1.762	0.230	5.478	0.109	.	0.0014	0.00439297	0.0016	0.0201	0.0008	0	0	0.0002	0	0	0.0010758	28	26028	rs141545538	0.0005	0.0005	0.0005	0.0004	0.0174	0.0005	0.0004	0.0162	0.0157	0.0174	0.0007	0	0	0	0.0005	2.878e-05	0.0010	4.638e-05	0.0049	0.0050	0.0050	0.0048	0.0181	0.0046	0.0045	0.0170	0.0165	0.0181	0	0.0015	0	0	0	0	2.946e-05	0.0029	0	0.026	0.46910	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.070480	0.21537	N	0.408875	1	0.08975	N	3.325	0.90780	M	1.97	0.22067	T	-7.24	0.94326	D	0.221	0.24758	-0.8307	0.53257	T	0.237	0.60403	T	10	0.0060087144	0.00135	T	.	.	.	0.115	0.32236	.	.	0.458644561121	0.45486	0.3785114795205576	0.37766	2.84684013171	0.99016	0.236102074385	0.02450	T	0.054552	0.29757	T	-0.501671	0.00560	T	-0.479112	0.24540	T	0.109495697139118	0.13370	T	0.59724	0.22604	T	0.50904065	0.67624	0.34855044	0.60493	0.50904065	0.67625	0.34855044	0.60493	-10.051	0.74544	D	.	.	0.810	0.77745	P	.;.	.;.	2.509386	0.32405	19.03	0.99288317508275725	0.58184	0.03661	0.08919	N	AEFDGBI	0.041536	0.06327	N	-0.251199276636312	0.31055	1.737625	-0.472459661730906	0.22915	1.247078	0.00117013660001147	0.08293	0.487112	0.14033	0	0.547309	0.14657	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	3.28	2.24	0.27264	0.393000	0.20543	0.655000	0.20452	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.156:0.0:0.844:0.0	5.478	0.15998	681	0.59854	Immunoglobulin V-set domain|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3655.98	36	chr19	49960686	.	G	T	3655.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=3666;ExcessHet=0.0000;FS=2.074;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=48.49;MQRankSum=-9.000e-03;QD=8.04;ReadPosRankSum=-1.743e+00;SOR=0.861	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1530	20	0	1	0
chr19	49988387	49988387	A	C	exonic	VRK3	.	nonsynonymous SNV	VRK3:NM_001025778:exon11:c.T1052G:p.M351R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.996	D	0.859	P	0.000	D	1.000	D	1.79	L	3.41	T	-1.016	T	0.032	T	0.512	0.919	8.743	4.42	1.030	2.150	9.037	0.086	0.0135872645788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	1.363e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.796	0.03150	T	0.047	0.52060	D	0.996	0.68779	D	0.859	0.61184	P	0.000018	0.62929	D	0.185614	0.979529	0.39571	D	2.035	0.55589	M	3.41	0.65747	T	-1.2	0.30555	N	0.764	0.77883	-1.0160	0.25013	T	0.032	0.13767	T	10	0.18373954	0.33715	T	0.013587	0.33109	T	0.086	0.25016	0.333	0.32005	0.779300291469	0.77726	0.758161355376059	0.75764	0.69934721439	0.61027	0.414813667536	0.27123	T	0.014004	0.13743	T	-0.0157255	0.49460	T	-0.260365	0.48787	T	0.892780840396881	0.54391	D	0.766723	0.39899	T	0.42735803	0.62578	0.22797994	0.47825	0.42735803	0.62579	0.22797994	0.47824	-6.718	0.53873	T	.	.	0.162	0.36355	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.378620	0.67476	25.1	0.93116584340525455	0.22751	0.52009	0.29030	D	AEFBCI	0.291328	0.40248	N	0.137105344457736	0.48200	3.035492	0.179140723104348	0.48706	3.082871	0.143370842029982	0.17314	0.706548	0.73137	0	0.702456	0.74545	0	0.786243	0.99158	0	0.714379	0.83352	0	.	.	5.44	4.42	0.52775	2.855000	0.48032	8.780000	0.78246	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.9104:0.0:0.0896:0.0	9.037	0.35458	675	0.60470	Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain;.;Protein kinase domain;Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1771.98	33	chr19	49988387	.	A	C	1771.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.678e+00;DP=841;ExcessHet=0.0000;FS=1.343;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.57;ReadPosRankSum=0.052;SOR=0.865	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr19	50007700	50007700	G	A	exonic	VRK3	.	nonsynonymous SNV	VRK3:NM_001025778:exon4:c.C266T:p.T89M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.25	B	0.064	B	0.084	N	0.810	N	1.39	L	1.81	T	-1.051	T	0.043	T	0.208	-0.309	2.529	0.903	0.324	0.857	6.817	0.054	0.00180237566414	.	.	4.942e-05	0	0	0	0	2.997e-05	0.0011	0.0002	3.88e-05	6	154602	rs776497793	2.668e-05	2.668e-05	2.178e-05	3.163e-05	0.0002	1.997e-05	1.754e-05	7.123e-05	5.481e-05	8.961e-05	0	0	2.519e-05	1.872e-05	0.0002	1.799e-05	3.311e-05	0.0001	3.943e-05	3.94e-05	5.139e-05	2.69e-05	0.0001	1.715e-05	1.129e-05	4.739e-05	3.053e-05	0.0001	0	0	0	0	0	0	1.47e-05	0	0	0.051	0.42487	T	0.152	0.36901	T	0.081	0.24602	B	0.015	0.21540	B	0.083707	0.20738	N	0.493307	0.809527	0.34621	D	2.19	0.61577	M	1.78	0.33189	T	-1.54	0.40660	N	0.138	0.18920	-1.0508	0.14175	T	0.043	0.18410	T	10	0.0445275	0.03420	T	0.001802	0.03089	T	0.054	0.15330	.	.	0.132336055621	0.12781	0.34287442471847807	0.34200	0.158088591516	0.17855	0.400993257761	0.25207	T	0.003406	0.32653	T	-0.344309	0.05095	T	-0.529698	0.19315	T	0.054361948833213	0.06250	T	0.653935	0.37818	T	0.02404051	0.01198	0.061294284	0.11811	0.02404051	0.01197	0.061294284	0.11810	-5.226	0.39205	T	.	.	0.090	0.25067	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	1.923844	0.24436	16.39	0.79838929624814603	0.12924	0.09010	0.14849	N	AEFBI	0.063384	0.12245	N	-1.10528491343102	0.06549	0.3017489	-1.13375121021561	0.07063	0.3421914	7.08650987070423E-5	0.04366	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.15	0.903	0.18428	0.927000	0.28418	2.234000	0.31556	-0.119000	0.14319	0.093000	0.22645	0.902000	0.27988	0.115000	0.18958	0.2556:0.0:0.7444:0.0	6.817	0.23019	692	0.58729	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2020.98	35	chr19	50007700	.	G	A	2020.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.190e-01;DP=903;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=1.53;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1307	20	0	1	0
chr19	50039275	50039275	C	G	exonic	ZNF473	.	nonsynonymous SNV	ZNF473:NM_001308424:exon2:c.C88G:p.L30V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.021	B	0.03	B	0.002	N	1.000	N	2.285	M	3.96	T	-1.039	T	0.018	T	0.262	1.167	9.748	2.81	0.807	-0.552	12.523	0.120	0.0060188163365	.	.	8.241e-06	0	0	0	0	0	0	6.062e-05	6.5e-06	1	154602	rs764160714	4.789e-06	4.788e-06	5.445e-06	4.126e-06	6.956e-05	1.99e-06	1.28e-06	2.995e-05	2.038e-05	0	0	0	0	0	0	0	1.656e-05	6.956e-05	1.314e-05	1.313e-05	0	2.69e-05	0.0004	2.18e-06	8.2e-07	7.282e-05	3.026e-05	0	0	0	0	0	0	0	0	0	0.0004	0.011	0.57480	D	0.0	0.92824	D	0.021	0.18474	B	0.03	0.21741	B	0.002198	0.37053	N	0.000000	1	0.08975	N	2.415	0.69758	M	3.96	0.03354	T	-2.1	0.47852	N	0.3	0.35194	-1.0386	0.17740	T	0.018	0.07234	T	10	0.45665792	0.59031	T	0.006019	0.15728	T	0.120	0.33359	0.808	0.92512	0.187035705434	0.18338	0.20394816659745804	0.20311	0.28722763763	0.31124	0.28375557065	0.08022	T	0.005134	0.04570	T	-0.325673	0.06445	T	-0.608729	0.12089	T	0.13512727094898	0.15848	T	0.59724	0.22223	T	0.12912598	0.30168	0.1598387	0.37258	0.12912598	0.30168	0.1598387	0.37257	-5.7	0.43694	T	.	.	0.103	0.44656	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.855121	0.23566	16.07	0.99325563282946239	0.59546	0.05739	0.11666	N	AEFBI	0.038426	0.05438	N	-0.857804385166989	0.11858	0.5746418	-0.911041477642776	0.11834	0.6052673	0.00892972700932464	0.11765	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.98	2.81	0.31971	-1.627000	0.02136	1.074000	0.23831	-0.174000	0.10959	0.000000	0.06391	0.553000	0.25478	0.141000	0.19983	0.3017:0.6983:0.0:0.0	12.523	0.55417	730	0.54327	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;.;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1518.98	36	chr19	50039275	.	C	G	1518.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.490e-01;DP=889;ExcessHet=0.0000;FS=1.261;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.99;ReadPosRankSum=0.643;SOR=0.556	GT:AD:DP:GQ:PL	0/1:102,67:169:99:1533,0,2606	20	0	1	0
chr19	50046559	50046559	G	A	exonic	ZNF473	.	nonsynonymous SNV	ZNF473:NM_001308424:exon4:c.G2080A:p.E694K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.965	D	0.465	P	0.289	N	1.000	N	1.42	L	5.26	T	-0.868	T	0.006	T	0.34	1.734	11.76	3.03	1.277	0.502	11.985	0.053	0.0143039779005	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200067761	3.42e-06	3.42e-06	2.722e-06	4.125e-06	2.319e-05	1e-06	7.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	2.698e-06	0	2.319e-05	1.969e-05	1.968e-05	2.569e-05	1.342e-05	0.0002	5.24e-06	2.45e-06	.	.	2.405e-05	0	0	0	0.0002	0	0	1.47e-05	0	0	0.067	0.35918	T	0.028	0.59732	D	0.965	0.56013	D	0.465	0.46596	P	0.289280	0.14799	N	0.566777	0.99992	0.19694	N	1.755	0.45626	L	5.26	0.01121	T	-3.09	0.65397	D	0.214	0.26233	-0.8676	0.50709	T	0.006	0.01944	T	10	0.18464732	0.33848	T	0.014304	0.34324	T	0.053	0.14996	.	.	0.375026046212	0.37117	0.13064048833410227	0.12989	0.562887643132	0.52745	0.308940529823	0.11747	T	0.017296	0.14133	T	-0.310897	0.07670	T	-0.502831	0.22054	T	0.835275888442993	0.48946	D	0.433257	0.11819	T	0.16633564	0.36962	0.15689316	0.36712	0.16633564	0.36962	0.15689316	0.36711	-5.869	0.45170	T	.	.	0.349	0.56702	A	.;.;.;.	.;.;.;.	1.902101	0.24156	16.29	0.99694978352064179	0.80180	0.00380	0.01923	N	AEFBHCI	0.069105	0.13663	N	-0.274180840356647	0.30149	1.678388	-0.424082080331095	0.24293	1.32947	0.333441972955457	0.19509	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.1	3.03	0.34070	0.363000	0.20037	1.030000	0.23473	0.654000	0.53741	0.000000	0.06391	0.003000	0.18671	0.234000	0.22842	0.0:0.1769:0.8231:0.0	11.985	0.52430	740	0.53092	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2018.98	152	chr19	50046559	.	G	A	2018.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.38;DP=863;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.28;ReadPosRankSum=-5.700e-02;SOR=0.658	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1202	20	0	1	0
chr19	50046997	50046997	C	T	exonic	ZNF473	.	nonsynonymous SNV	ZNF473:NM_001308424:exon4:c.C2518T:p.R840W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.999	D	0.912	D	1.000	N	1.000	N	2.29	M	1.55	T	-0.984	T	0.107	T	0.236	2.215	13.36	-8.6	-1.785	-2.395	1.884	0.084	0.0205101883379	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1031592392	1.71e-05	1.71e-05	2.042e-05	1.375e-05	2.158e-05	1.174e-05	9.92e-06	1.46e-05	1.227e-05	0	0	0	0	0	0	2.158e-05	1.656e-05	0	2.629e-05	2.627e-05	2.57e-05	2.691e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.033	0.48186	D	0.034	0.54159	D	0.999	0.77913	D	0.912	0.64797	D	0.999546	0.07975	N	0.999675	1	0.08975	N	2.77	0.80896	M	1.55	0.29866	T	-2.61	0.58407	D	0.154	0.17002	-0.9837	0.34140	T	0.107	0.38906	T	10	0.10687795	0.19826	T	0.02051	0.43119	T	0.084	0.24469	0.478	0.55663	0.248133497653	0.24425	0.10038491969269771	0.09969	0.456204352265	0.45275	0.212517678738	0.00923	T	0.089626	0.38413	T	-0.22101	0.17857	T	-0.555242	0.16826	T	0.389079838991165	0.28529	T	0.429357	0.15803	T	0.040720306	0.05866	0.035221912	0.02732	0.040720306	0.05866	0.035221912	0.02732	-8.581	0.64963	D	.	.	0.376	0.62361	A	.;.;.;.	.;.;.;.	1.454906	0.18762	13.91	0.98618195375465301	0.43731	0.00102	0.00658	N	AEFDGBHCI	0.184455	0.31178	N	-0.825996352749145	0.12648	0.6178542	-1.18856592407846	0.06099	0.2925902	0.99999999997245	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.779548	0.98927	0	0.635551	0.53088	0	.	.	4.3	-8.6	0.00773	-1.974000	0.01589	-1.461000	0.05387	-0.239000	0.07538	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.326:0.2938:0.2683:0.1118	1.884	0.03037	740	0.53092	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1339.98	43	chr19	50046997	.	C	T	1339.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=815;ExcessHet=0.0000;FS=1.812;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.56;ReadPosRankSum=0.215;SOR=0.456	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1202	20	0	1	0
chr19	50260650	50260650	G	A	exonic	MYH14	.	nonsynonymous SNV	MYH14:NM_024729:exon18:c.G2236A:p.E746K	Deafness, autosomal dominant 4A, Autosomal dominant	.	1	1519	2	0	0	2	0.000657895	.	.	53226	not_provided|Autosomal_dominant_nonsyndromic_hearing_loss_4A|MYH14-related_disorder|not_specified	MedGen:C3661900|MONDO:MONDO:0010915,MedGen:C1833503,OMIM:600652,Orphanet:90635|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.77	T	0.901	P	0.195	B	.	.	1.000	D	1.13	L	-2.18	D	-0.302	T	0.402	T	0.666	3.936	20.1	4.23	2.362	9.355	14.49	0.579	.	.	0.00299521	0.0022	0	0.0002	0	0	0	0.0023	0.0155	0.0018111	280	154602	rs397516628	0.0009	0.0009	0.0005	0.0013	0.0142	0.0009	0.0008	0.0135	0.0132	0.0001	6.717e-05	0	5.041e-05	1.876e-05	0.0005	1.08e-05	0.0010	0.0142	0.0006	0.0006	0.0003	0.0009	0.0169	0.0005	0.0004	0.0140	0.0129	2.417e-05	0	0.0001	0	0.0004	0	0	0	0	0.0169	0.002	0.72154	D	0.135	0.34477	T	0.88	0.49677	P	0.176	0.36592	B	.	.	.	.	1	0.81001	D	1.1	0.28011	L	-2.18	0.86722	D	-3.85	0.72353	D	0.817	0.82358	-0.3016	0.74940	T	0.402	0.75281	T	9	0.01169014	0.00254	T	.	.	.	0.579	0.83024	0.513	0.61153	0.874338531701	0.87310	0.7832542871364795	0.78276	0.927983810509	0.71708	0.87479364872	0.93246	D	0.631993	0.88606	D	-0.120417	0.33056	T	0.0659286	0.74639	D	0.155578378032356	0.17539	T	0.976102	0.91674	D	0.27856553	0.50909	0.4795186	0.69853	0.33864182	0.56171	0.580226	0.75671	-8.286	0.64482	D	0.7918888842266457	0.87017	0.937	0.91928	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.339760	0.66570	25.0	0.99911681491107851	0.98095	0.99340	0.94730	D	AEFDGCI	0.914863	0.87883	D	0.0934851095846664	0.46159	2.860625	0.1619673479404	0.47779	3.003086	0.999998867164271	0.74766	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.564101	0.26826	0	.	.	4.23	4.23	0.49319	9.699000	0.97950	11.339000	0.92553	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.490000	0.28791	0.0:0.0:1.0:0.0	14.49	0.67226	856	0.34373	.;.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain;.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain;.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1953.98	84	chr19	50260650	.	G	A	1953.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=2199;ExcessHet=0.0000;FS=1.257;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.53;ReadPosRankSum=-1.732e+00;SOR=0.850	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,80:156:99:0|1:50260632_C_T:1968,0,1728:50260632	20	0	1	0
chr19	50286563	50286563	G	A	exonic	MYH14	.	nonsynonymous SNV	MYH14:NM_024729:exon32:c.G4498A:p.A1500T	Deafness, autosomal dominant 4A, Autosomal dominant	.	2	1517	2	1	0	4	0.00131666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.027	B	0.063	B	.	.	0.924	D	-1.34	N	-0.92	T	-0.877	T	0.103	T	0.078	0.696	7.714	4.56	2.543	5.854	8.738	0.261	0.0318509903202	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1284422786	6.854e-07	6.84e-07	0	1.378e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	6.568e-06	6.566e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	1.0	0.02582	T	0.01	0.19556	B	0.013	0.27082	B	.	.	.	.	0.923984	0.36762	D	-0.89	0.01422	N	-0.92	0.75108	T	3.54	0.00084	N	0.1	0.11054	-0.8767	0.50020	T	0.103	0.37894	T	9	0.10035038	0.18270	T	0.031851	0.53829	D	0.261	0.57352	0.469	0.54214	0.29893580763	0.29502	0.14021335408609867	0.13944	0.155586269279	0.17559	0.671351790428	0.63031	T	0.101875	0.40906	T	-0.147622	0.28684	T	-0.449825	0.27716	T	0.269337017896402	0.23719	T	0.910909	0.75503	D	0.052994236	0.09966	0.22490825	0.47417	0.052994236	0.09965	0.22490825	0.47416	-2.691	0.07228	T	0.03373545710409725	0.00150	0.090	0.19800	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.733500	0.35785	19.99	0.54682007364229279	0.05186	0.77755	0.38268	D	AEFBI	0.539295	0.55633	D	-0.428454226559864	0.24476	1.321863	-0.143944129618303	0.33642	1.926554	0.0692730520664938	0.15485	0.706548	0.73137	0	0.610034	0.51514	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	4.56	4.56	0.55644	6.110000	0.71213	0.977000	0.23099	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.940000	0.48062	0.102:0.0:0.898:0.0	8.738	0.33702	716	0.55970	.;Myosin tail;.;Myosin tail;.;.;Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1183.98	34	chr19	50286563	.	G	A	1183.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.95;DP=781;ExcessHet=0.0000;FS=1.835;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.26;ReadPosRankSum=-7.650e-01;SOR=0.951	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1049	20	0	1	0
chr19	50290921	50290921	G	A	exonic	MYH14	.	nonsynonymous SNV	MYH14:NM_024729:exon34:c.G4877A:p.R1626Q	Deafness, autosomal dominant 4A, Autosomal dominant	.	1	1520	1	0	0	1	0.000328839	.	.	1484237	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.995	D	0.844	P	.	.	0.999	D	1.545	L	-1.67	D	0.217	D	0.589	D	0.374	4.587	25.0	4.42	2.447	9.300	14.887	0.610	0.118939287585	.	.	0.0001	0	0	0	0	0.0002	0	0	2.59e-05	4	154602	rs766573893	1.122e-05	1.3e-05	1.25e-05	9.913e-06	3.039e-05	6.64e-06	5.37e-06	1.97e-06	1.3e-06	3.039e-05	0	0.0003	0	0	0	5.48e-06	1.692e-05	0	1.314e-05	1.313e-05	0	2.691e-05	0.0001	2.18e-06	8.2e-07	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	0	0	0	0.0	0.91255	D	0.237	0.62352	T	0.994	0.67487	D	0.733	0.60373	P	.	.	.	.	0.998663	0.45243	D	1.515	0.38264	L	-1.67	0.84267	D	-3.75	0.71157	D	0.566	0.76203	0.217	0.86195	D	0.589	0.85281	D	9	0.5161361	0.62376	D	0.118939	0.79911	D	0.610	0.84719	0.508	0.60386	0.553613530234	0.55019	0.2768681489275683	0.27599	0.293193623703	0.31741	0.611020922661	0.54459	T	0.511102	0.82717	D	-0.0170603	0.49272	T	-0.0639653	0.66053	T	0.54904043674469	0.34441	D	0.994076	0.98035	D	0.14291233	0.32868	0.22451721	0.47366	0.14291233	0.32867	0.22451721	0.47365	-9.088	0.68261	D	0.2589510185490434	0.34984	0.103	0.32251	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.287960	0.88783	29.7	0.99945881936819247	0.99901	0.98128	0.79838	D	AEFDGBI	0.924596	0.90286	D	0.609828873191783	0.73797	6.02496	0.591146526752715	0.74303	6.114223	0.999999943630821	0.74766	0.718356	0.82227	0	0.563428	0.19063	0	0.570548	0.19454	0	0.613276	0.41899	0	.	.	4.42	4.42	0.52775	9.819000	0.98287	7.229000	0.57868	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:1.0:0.0	14.887	0.70219	707	0.57054	.;Myosin tail;.;Myosin tail;.;.;Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	877.98	33	chr19	50290921	.	G	A	877.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.94;DP=750;ExcessHet=0.0000;FS=0.998;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.88;ReadPosRankSum=-1.024e+00;SOR=0.513	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1082	20	0	1	0
chr19	50323234	50323234	G	C	exonic	KCNC3	.	nonsynonymous SNV	KCNC3:NM_001372305:exon2:c.C1491G:p.N497K	Spinocerebellar ataxia 13, Autosomal dominant	.	3	1517	2	0	0	2	0.000658762	.	.	1544272	not_provided|KCNC3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.69	T	0.602	P	0.186	B	.	.	1.000	D	1.1	L	-4.51	D	0.298	D	0.761	D	0.167	0.547	6.959	2.18	1.819	0.970	4.551	0.395	0.577166004186	.	0.000199681	0.0008	0	0	0	0	0	0	0.0029	0.000207	32	154602	rs572684513	0.0001	0.0001	6.816e-05	0.0002	0.0021	0.0001	0.0001	0.0019	0.0018	0	0	0	2.594e-05	0	0.0004	0	0.0002	0.0021	6.564e-05	6.561e-05	0	0.0001	0.0021	3.513e-05	2.614e-05	0.0011	0.0009	0	0	0	0	0	0	0	0	0	0.0021	0.147	0.26519	T	0.372	0.19304	T	0.431	0.39365	B	0.186	0.36104	B	.	.	.	.	0.999733	0.81001	D	1.79	0.46772	L	-4.51	0.97672	D	-2.59	0.55821	D	0.389	0.47949	0.298	0.87531	D	0.761	0.91847	D	9	0.024640888	0.00685	T	0.577166	0.96198	D	0.395	0.71004	0.277	0.23004	0.699144523917	0.69654	0.7035829312214221	0.70299	.	.	0.78668397665	0.79938	T	0.128426	0.48802	T	-0.228376	0.16864	T	-0.107298	0.62826	T	0.0699722757360497	0.08647	T	0.929107	0.73907	D	0.14716211	0.33654	0.12763014	0.30720	0.14716211	0.33654	0.12763014	0.30719	-6.557	0.50724	T	.	.	0.747	0.85185	P	.;.	.;.	3.444127	0.47929	22.5	0.98466085385434088	0.41803	0.95588	0.65322	D	AEFBI	0.528518	0.55001	D	-0.368236928850777	0.26607	1.453424	-0.348431341619238	0.26557	1.467697	0.0725376448880109	0.15604	0.660377	0.49826	0	0.633656	0.55848	0	0.696353	0.63694	0	0.604944	0.38103	0	.	.	3.22	2.18	0.26813	0.946000	0.28667	0.534000	0.19274	0.590000	0.31872	1.000000	0.71638	0.993000	0.31925	0.127000	0.19450	0.2711:0.0:0.7289:0.0	4.551	0.11510	628	0.65206	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1063.98	38	chr19	50323234	.	G	C	1063.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.000e-01;DP=796;ExcessHet=0.0000;FS=3.495;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.64;ReadPosRankSum=-4.850e-01;SOR=1.216	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1156	20	0	1	0
chr19	50328956	50328958	GCT	-	exonic	KCNC3	.	nonframeshift deletion	KCNC3:NM_004977:exon1:c.125_127del:p.Q42del,	Spinocerebellar ataxia 13, Autosomal dominant	.	23	202	0	1	0	2	0.00492611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1261030059	6.665e-05	0.0003	8.069e-05	5.155e-05	6.669e-05	5.15e-05	4.655e-05	5.082e-05	4.535e-05	0	0	0	0	0.0001	0	6.669e-05	0.0001	5.424e-05	0	6.597e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	37.23	6	chr19	50328955	.	GGCT	G	37.23	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.950e-01;DP=211;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0092;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.86;ReadPosRankSum=1.07;SOR=0.330	GT:AD:DP:GQ:PL	0/0:9,0:9:27:0,27,282	20	0	1	0
chr19	50379024	50379024	C	G	exonic	NR1H2	.	nonsynonymous SNV	NR1H2:NM_001256647:exon6:c.C479G:p.P160R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.998	D	0.927	D	0.008	N	1.000	D	1.845	L	-4.27	D	0.993	D	0.920	D	0.588	3.336	17.23	4.28	2.386	4.397	15.991	0.634	0.175011833202	.	0.000199681	8.605e-06	0	0	0	0	0	0	6.803e-05	1.29e-05	2	154602	rs540260398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.565e-06	6.561e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.02	0.49613	D	0.07	0.43721	T	0.404	0.34945	B	0.318	0.41660	B	0.007925	0.31115	N	0.214109	0.972933	0.81001	D	1.955	0.52871	M	-4.27	0.97101	D	-2.49	0.55181	N	0.579	0.60071	0.993	0.97069	D	0.920	0.97341	D	10	0.4064611	0.55927	T	0.175012	0.85123	D	0.634	0.85975	0.286	0.24440	0.821073533782	0.81938	.	.	1.9200269807	0.92987	0.69784450531	0.66833	T	0.478437	0.80825	T	0.156396	0.69865	D	0.0875061	0.76078	D	0.797450482845306	0.46180	D	0.889211	0.62120	D	0.39284876	0.60233	0.237486	0.49048	0.39284876	0.60234	0.237486	0.49047	-7.381	0.56771	T	.	.	0.491	0.64169	A	.;.;.	.;.;.	4.314471	0.65983	24.9	0.99773371012099155	0.86088	0.90979	0.52625	D	AEFDBCI	0.763759	0.70076	D	0.403090889691129	0.61593	4.362424	0.419622027975638	0.62788	4.500302	0.999999243019491	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.28	4.28	0.50183	4.519000	0.60234	5.910000	0.51009	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.991	0.79996	586	0.69252	.;Nuclear hormone receptor, ligand-binding domain;Nuclear hormone receptor, ligand-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1869.98	37	chr19	50379024	.	C	G	1869.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.438e+00;DP=960;ExcessHet=0.0000;FS=2.830;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=-1.717e+00;SOR=0.941	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1216	20	0	1	0
chr19	50406228	50406228	A	G	exonic	POLD1	.	nonsynonymous SNV	POLD1:NM_001308632:exon10:c.A1289G:p.N430S	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, Autosomal dominant	.	410	1111	1	0	0	1	0.000449843	.	.	479888	Colorectal_cancer,_susceptibility_to,_10|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0012953,MedGen:C2675481,OMIM:612591,Orphanet:220460|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.86	T	0.002	B	0.003	B	0.270	N	0.993	N	-0.55	N	3.0	T	-0.972	T	0.007	T	0.017	0.709	7.779	-5.35	-1.022	-0.063	3.311	0.104	0.00675857508937	.	0.000199681	8.266e-06	0	0	0	0	0	0	6.067e-05	1.29e-05	2	154602	rs546554950	2.052e-06	2.736e-06	1.361e-06	2.75e-06	2.987e-05	5.5e-07	1.5e-07	.	.	2.987e-05	0	0	0	0	0	0	1.656e-05	1.159e-05	1.972e-05	1.969e-05	1.286e-05	2.689e-05	0.0002	5.24e-06	2.45e-06	.	.	2.411e-05	0	0	0	0.0002	0	0	1.471e-05	0	0	0.853	0.02718	T	0.828	0.03739	T	0.002	0.09854	B	0.003	0.08700	B	0.270402	0.15139	N	0.656516	0.992859	0.23814	N	-0.145	0.04423	N	3.0	0.09167	T	0.61	0.02480	N	0.093	0.07398	-0.9722	0.36734	T	0.007	0.02360	T	10	0.027823776	0.00922	T	0.006759	0.17868	T	0.104	0.29647	0.471	0.54537	0.166414681773	0.16258	0.16773037350102635	0.16693	0.492194612246	0.47877	0.367228299379	0.20433	T	0.079061	0.36038	T	-0.410206	0.01981	T	-0.827009	0.01316	T	0.0129278810925486	0.00223	T	0.774123	0.41972	T	0.07863082	0.17917	0.03324038	0.02187	0.07863082	0.17916	0.03324038	0.02187	-2.234	0.04209	T	0.1029189198414818	0.07877	0.056	0.01011	B	.;.;.;.	.;.;.;.	0.744650	0.11139	7.784	0.68215701042232002	0.08590	0.15854	0.19113	N	AEFDBHI	0.114474	0.22546	N	-1.18795662059922	0.05181	0.2356033	-1.10653363423935	0.07574	0.368978	0.00151483907959098	0.08604	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.54	-5.35	0.02488	-0.233000	0.09056	0.085000	0.14440	0.756000	0.94297	0.001000	0.13787	0.004000	0.18990	0.991000	0.66497	0.1991:0.4831:0.1487:0.169	3.311	0.06604	784	0.47045	DNA-directed DNA polymerase, family B, exonuclease domain;DNA-directed DNA polymerase, family B, exonuclease domain;DNA-directed DNA polymerase, family B, exonuclease domain;DNA-directed DNA polymerase, family B, exonuclease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1026.98	35	chr19	50406228	.	A	G	1026.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=853;ExcessHet=0.0000;FS=6.005;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=1.76;SOR=1.363	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr19	50454331	50454331	G	A	exonic	MYBPC2	.	stopgain	MYBPC2:NM_004533:exon18:c.G1976A:p.W659X,	.	.	428	1079	15	0	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.003	U	1.000	A	.	.	.	.	.	.	.	.	.	6.891	38	3.47	1.978	8.250	12.345	.	.	.	0.000199681	0.0004	0	0.0002	0	0	0.0004	0	0.0014	0.0003428	53	154602	rs201432361	0.0003	0.0003	0.0002	0.0003	0.0036	0.0003	0.0002	0.0024	0.0021	0	0.0002	0.0007	0	3.746e-05	0.0036	0.0002	0.0006	0.0016	0.0002	0.0002	0.0003	0.0002	0.0017	0.0002	0.0002	0.0008	0.0006	0	0	0.0003	0.0003	0	0	0.0034	0.0003	0.0005	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	0.002862	0.35804	U	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.235	0.26475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299576	0.82934	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	10.462229	0.99753	47	0.99737816710304616	0.83264	0.99008	0.89887	D	AEFBI	0.239093	0.36112	N	0.779616868943153	0.84816	8.394412	0.599427983177341	0.74899	6.216245	0.462213884776719	0.20634	0.615465	0.37627	0	0.633656	0.55848	0	0.596874	0.31795	0	0.542086	0.14980	0	.	.	3.47	3.47	0.38831	8.949000	0.92922	11.644000	0.93817	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	12.345	0.54442	867	0.32089	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2715.98	73	chr19	50454331	.	G	A	2715.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.540;DP=1362;ExcessHet=0.0000;FS=4.432;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.97;MQRankSum=-8.240e-01;QD=15.09;ReadPosRankSum=-1.278e+00;SOR=1.012	GT:AD:DP:GQ:PL	0/0:82,0:82:99:0,120,1800	20	0	1	0
chr19	50476234	50476234	A	C	exonic	FAM71E1	.	nonsynonymous SNV	FAM71E1:NM_001308429:exon1:c.T155G:p.L52R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.002	B	0.003	B	0.394	N	1.000	N	0.69	N	2.2	T	-0.996	T	0.026	T	0.238	3.465	17.74	-7.13	-1.300	-0.564	1.115	0.017	0.00826059310183	.	.	5.933e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs768601678	1.711e-05	1.71e-05	8.171e-06	2.614e-05	0.0003	1.175e-05	9.93e-06	0.0002	0.0001	0	0	0	0	0	0	0	4.969e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.45110	T	0.002	0.09854	B	0.001	0.08700	B	0.393965	0.04494	N	1.532860	1	0.08975	N	0.55	0.14455	N	.	.	.	.	.	.	0.258	0.29197	-0.9959	0.31055	T	0.026	0.11220	T	10	0.045063883	0.03535	T	0.008261	0.21878	T	.	.	0.219	0.14078	0.0716867268079	0.06686	0.45324918331568664	0.45242	0.254945854529	0.28073	0.380598366261	0.22341	T	0.007423	0.06827	T	-0.429407	0.01494	T	-0.518331	0.20465	T	0.0301392879944537	0.02012	T	0.317468	0.06331	T	0.12197901	0.28672	0.13177261	0.31635	0.12197901	0.28672	0.13177261	0.31634	-3.509	0.16940	T	.	.	0.094	0.17317	B	.;.	.;.	1.366484	0.17758	13.35	0.98158668115390146	0.38755	0.01351	0.04634	N	AEFGBHCIJ	0.078465	0.15831	N	-1.29456732158365	0.03740	0.1676196	-1.4280599892829	0.02974	0.137885	0.9999999999996	0.74766	0.652421	0.48094	0	0.606814	0.50340	0	0.64067	0.45733	0	0.603991	0.37454	0	.	.	3.98	-7.13	0.01379	-0.729000	0.05024	-4.013000	0.02394	0.750000	0.87069	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.3107:0.2029:0.0911:0.3953	1.115	0.01607	735	0.53711	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	828.98	37	chr19	50476234	.	A	C	828.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.330e-01;DP=821;ExcessHet=0.0000;FS=1.972;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=1.89;SOR=0.476	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1221	20	0	1	0
chr19	50658956	50658956	C	G	exonic	C19orf81	.	nonsynonymous SNV	C19orf81:NM_001195076:exon5:c.C411G:p.I137M,	.	.	423	1079	18	2	0	22	0.0100917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	.	.	1.000	N	0.975	L	.	.	-0.974	T	0.110	T	0.584	2.494	14.30	3.02	1.725	0.855	11.355	0.115	.	.	0.000798722	0.0087	0	0	0	0	0	0	0.0139	0.000401	62	154602	rs576875269	0.0005	0.0005	0.0003	0.0007	0.0071	0.0004	0.0004	0.0066	0.0064	3.386e-05	3.178e-05	0	6.041e-05	0	0.0029	3.525e-05	0.0007	0.0071	0.0003	0.0003	0.0001	0.0004	0.0077	0.0002	0.0002	0.0057	0.0050	0	0	0	0	0	0	0	4.412e-05	0	0.0077	0.011	0.55530	D	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	0.948325	0.81001	N	2.215	0.62545	M	.	.	.	-1.56	0.37759	N	0.578	0.59986	-0.9735	0.36453	T	0.110	0.39556	T	6	0.0043836236	0.00089	T	.	.	.	0.115	0.32236	0.318	0.29581	0.0611884634855	0.05136	0.1606151003303864	0.15982	.	.	.	.	.	0.166005	0.51207	T	-0.269539	0.11809	T	-0.156365	0.58677	T	0.1091815034209	0.13338	T	0.660634	0.26999	T	0.17826484	0.38836	0.27475694	0.53406	0.17826484	0.38836	0.27475694	0.53405	-4.642	0.32695	T	.	.	0.358	0.57085	A	.;.	.;.	3.016191	0.40355	21.1	0.99108971388781708	0.52674	0.50750	0.28735	D	AEFGBHCIJ	0.211453	0.33724	N	-0.212200193034917	0.32632	1.84245	-0.264224584712698	0.29286	1.639538	0.999999999999841	0.74766	0.421363	0.06395	0	0.550933	0.16991	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.02	3.02	0.33970	1.203000	0.31890	1.593000	0.27541	-0.176000	0.10722	0.165000	0.23867	0.999000	0.35428	0.132000	0.19645	0.0:1.0:0.0:0.0	11.355	0.48852	856	0.34373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	480.98	35	chr19	50658956	.	C	G	480.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.924;DP=757;ExcessHet=0.0000;FS=2.340;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.75;ReadPosRankSum=1.72;SOR=1.077	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,105,1575	20	0	1	0
chr19	50659066	50659066	G	T	exonic	C19orf81	.	nonsynonymous SNV	C19orf81:NM_001195076:exon5:c.G521T:p.R174L,	.	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	0.55	N	.	.	-0.799	T	0.112	T	0.755	4.421	23.5	3.02	1.725	2.900	11.355	0.414	0.0918840828371	.	.	0.0009	0	0	0	.	0	0	0.0014	6.47e-05	10	154602	rs760965435	3.855e-05	3.694e-05	1.723e-05	6.044e-05	0.0006	3.007e-05	2.727e-05	0.0005	0.0004	0	0	0	0	0	0	2.793e-06	3.48e-05	0.0006	1.972e-05	1.969e-05	3.858e-05	0	0.0004	5.24e-06	2.45e-06	7.304e-05	3.034e-05	0	0	0	0	0	0	0	1.472e-05	0	0.0004	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.540705	0.81001	N	1.445	0.36358	L	.	.	.	-3.38	0.66780	D	0.417	0.45709	-0.7986	0.55227	T	0.112	0.40006	T	6	0.09799054	0.17686	T	0.091884	0.75790	D	0.414	0.72479	0.342	0.33464	0.38225645794	0.37833	0.1834811869629176	0.18267	.	.	.	.	.	0.118251	0.43892	T	-0.0646598	0.42175	T	0.0290286	0.72215	D	0.334755943418247	0.26415	T	0.730127	0.34567	T	0.5203803	0.68281	0.6367331	0.78789	0.5203803	0.68282	0.6367331	0.78789	-4.27	0.27754	T	.	.	0.541	0.66506	A	.;.	.;.	5.178231	0.86818	29.0	0.99738752881453607	0.83337	0.82858	0.42030	D	ALL	0.432217	0.49418	N	0.038993436689142	0.43638	2.652788	0.0737460440890597	0.43233	2.629355	0.999999999999978	0.74766	0.468429	0.09910	2	0.514364	0.08380	0	0.504199	0.09095	0	0.249971	0.05119	0	.	.	3.02	3.02	0.33970	3.438000	0.52634	11.222000	0.89806	0.671000	0.69459	0.843000	0.30332	1.000000	0.68203	0.952000	0.50033	0.0:0.0:1.0:0.0	11.355	0.48852	856	0.34373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1262.98	35	chr19	50659066	.	G	T	1262.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.67;DP=814;ExcessHet=0.0000;FS=0.736;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=0.202;SOR=0.836	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,105,1575	20	0	1	0
chr19	50666540	50666540	G	A	exonic	SHANK1	.	nonsynonymous SNV	SHANK1:NM_016148:exon23:c.C5420T:p.P1807L,	.	.	409	1097	15	1	0	17	0.00768883	.	.	729832	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.048	B	0.025	B	0.968	U	1.000	N	1.625	L	1.76	T	-0.995	T	0.060	T	0.083	-0.027	3.874	1.12	1.334	1.080	7.609	0.027	0.0828293383435	.	0.00139776	0.0036	0.0006	0.0062	0	0.0006	0.0052	0.0029	0.0010	0.0019017	294	154602	rs184259943	0.0024	0.0024	0.0024	0.0024	0.0107	0.0023	0.0023	0.0085	0.0077	0.0007	0.0031	0.0061	0	0.0005	0.0107	0.0025	0.0037	0.0010	0.0023	0.0023	0.0023	0.0024	0.0042	0.0021	0.0021	0.0034	0.0031	0.0003	0	0.0042	0.0061	0	0.0004	0.0374	0.0034	0.0038	0.0002	0.043	0.48186	D	0.179	0.45530	T	0.048	0.22112	B	0.025	0.20508	B	0.967967	0.07760	U	1.021450	1	0.08975	N	0	0.06538	N	1.76	0.37230	T	-1.78	0.42001	N	0.111	0.09772	-0.9954	0.31191	T	0.060	0.24981	T	10	0.0060329437	0.00135	T	0.082829	0.73985	D	0.027	0.05988	.	.	0.110392049598	0.10638	0.1295931873921332	0.12884	0.689654936946	0.60494	0.808962166309	0.83333	D	0.057085	0.30467	T	-0.610511	0.00126	T	-0.653098	0.08739	T	0.00458498317523324	0.00049	T	0.818618	0.47714	T	0.066591606	0.14343	0.087204926	0.20255	0.066591606	0.14343	0.087204926	0.20254	-4.549	0.31652	T	.	.	0.105	0.19235	B	.;.;.;.	.;.;.;.	2.577703	0.33415	19.33	0.9346749744651941	0.23258	0.11106	0.16411	N	AEFDBI	0.088616	0.17964	N	-0.719186940304289	0.15483	0.7806701	-0.7729775213659	0.15159	0.7958415	0.204906714060539	0.18169	0.582742	0.33608	0	0.547309	0.14657	0	0.606884	0.38211	0	0.620976	0.48614	0	.	.	2.35	1.12	0.19700	0.290000	0.18731	6.601000	0.56056	0.576000	0.29215	0.000000	0.06391	1.000000	0.68203	0.070000	0.16646	0.0:0.0:0.7494:0.2506	7.609	0.27286	873	0.30802	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1747.11	40	chr19	50666540	.	G	A	1747.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.24;DP=820;ExcessHet=0.1072;FS=0.669;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.32;ReadPosRankSum=-1.140e-01;SOR=0.620	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	19	0	2	0
chr19	50667305	50667305	G	C	exonic	SHANK1	.	nonsynonymous SNV	SHANK1:NM_016148:exon23:c.C4655G:p.P1552R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	U	1.000	D	1.59	L	2.32	T	-1.077	T	0.082	T	0.24	0.783	8.129	2.01	1.141	7.763	11.039	0.246	0.408224902334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.998	0.88582	D	0.000156	0.49130	U	0.081602	0.99994	0.81001	D	1.895	0.50365	L	2.32	0.16640	T	-3.81	0.72471	D	0.332	0.41162	-1.0772	0.07901	T	0.082	0.32295	T	10	0.3563404	0.52375	T	0.408225	0.93542	D	0.246	0.55340	0.152	0.05544	0.513554409148	0.50995	0.170767754175357	0.16996	0.715091012686	0.61917	0.902657151222	0.96729	D	0.512167	0.82775	D	-0.136282	0.30483	T	-0.433536	0.29534	T	0.946616768836975	0.62507	D	0.942806	0.78426	D	0.37657437	0.59068	0.3473858	0.60393	0.37657437	0.59068	0.3473858	0.60393	-9.429	0.71307	D	.	.	0.915	0.87601	P	.;.;.;.	.;.;.;.	3.861511	0.56000	23.7	0.93485414013710089	0.23284	0.97772	0.77022	D	AEFDBI	0.710995	0.66457	D	0.369389969068151	0.59772	4.159322	0.248784584858441	0.52582	3.431962	0.999821343101279	0.43622	0.764865	0.99124	0	0.547309	0.14657	0	0.731555	0.93304	0	0.620976	0.48614	0	.	.	2.01	2.01	0.25568	8.321000	0.89912	7.412000	0.58651	0.450000	0.21304	0.998000	0.41325	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	11.039	0.47035	878	0.29785	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1561.98	40	chr19	50667305	.	G	C	1561.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.749e+00;DP=945;ExcessHet=0.0000;FS=3.714;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.01;ReadPosRankSum=0.409;SOR=0.945	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr19	50908380	50908380	T	G	exonic	KLK4	.	nonsynonymous SNV	KLK4:NM_001302961:exon4:c.A306C:p.Q102H	Amelogenesis imperfecta, type IIA1, Autosomal recessive	.	0	1516	6	0	0	6	0.00197498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001164	18	154602	rs2569527	0.0042	0.0042	0.0042	0.0043	0.0047	0.0041	0.0041	0.0046	0.0046	0.0006	0.0007	0.0005	5.038e-05	0.0046	0.0005	0.0047	0.0039	0.0045	0.0031	0.0031	0.0030	0.0032	0.0052	0.0028	0.0027	0.0048	0.0046	0.0007	0	0.0020	0.0006	0	0.0032	0	0.0052	0.0005	0.0031	.	.	.	0.033	0.53072	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.17002	.	.	.	.	.	.	.	0.03328696	0.01501	T	.	.	.	.	.	.	.	.	.	0.34543216026245166	0.34457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0419958	0.00293	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.39782	B	.	.	0.770394	0.11402	8.015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.880000	0.04291	-3.673000	0.02615	-0.218000	0.08083	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	799	0.44747	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	1884.98	35	chr19	50908380	.	T	G	1884.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.869e+00;DP=874;ExcessHet=0.0000;FS=1.253;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.22;ReadPosRankSum=-5.200e-02;SOR=0.577	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1222	20	0	1	0
chr19	50908759	50908759	C	T	exonic	KLK4	.	nonsynonymous SNV	KLK4:NM_001302961:exon3:c.G10A:p.A4T	Amelogenesis imperfecta, type IIA1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.24	B	0.095	B	0.148	N	1.000	N	0.19	N	-3.14	D	-0.525	T	0.435	T	0.199	1.762	11.85	-1.68	-0.259	-0.548	2.274	0.166	0.049184628977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.43085	T	0.069	0.43913	T	.	.	.	.	.	.	0.147742	0.18071	N	0.406049	1	0.08975	N	.	.	.	-3.14	0.92884	D	-1.78	0.53420	N	0.128	0.12198	-0.5254	0.67714	T	0.435	0.77562	T	10	0.10483575	0.19347	T	0.049185	0.63702	D	0.166	0.42578	0.415	0.45380	0.715973634446	0.71348	0.6122378418497496	0.61155	0.405158307166	0.41409	0.29730540514	0.10000	T	.	.	.	-0.0374592	0.46326	T	-0.291584	0.45607	T	0.125725477933884	0.14981	T	0.625537	0.24174	T	.	.	.	.	.	.	.	.	-5.257	0.39516	T	.	.	0.242	0.47643	B	.;.	.;.	1.595215	0.20400	14.73	0.97721785097160163	0.35561	0.00725	0.03048	N	AEFDBI	0.029006	0.02658	N	-1.07649102869533	0.07078	0.3277713	-1.15384522408978	0.06699	0.3233348	0.829944388187711	0.24675	0.554377	0.28877	0	0.588066	0.40923	0	0.654281	0.52657	0	0.530356	0.10902	0	.	.	3.82	-1.68	0.07773	0.187000	0.16806	-0.314000	0.10017	-0.186000	0.09761	0.003000	0.16062	0.000000	0.08366	0.043000	0.14563	0.3066:0.2945:0.3015:0.0974	2.274	0.03847	799	0.44747	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	2312.98	35	chr19	50908759	.	C	T	2312.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.220e-01;DP=877;ExcessHet=0.0000;FS=1.215;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.29;ReadPosRankSum=-1.155e+00;SOR=0.582	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1222	20	0	1	0
chr19	50908801	50908801	T	C	exonic	KLK4	.	nonsynonymous SNV	KLK4:NM_004917:exon3:c.A253G:p.S85G,	Amelogenesis imperfecta, type IIA1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2361287	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.961	D	0.685	P	0.008	N	1.000	N	1.325	L	-3.17	D	0.010	D	0.712	D	0.276	1.920	12.38	1.42	0.592	0.922	5.244	0.313	0.0364593263154	.	0.000199681	0.0001	9.664e-05	0.0003	0	0	3.015e-05	0	0.0005	0.0001164	18	154602	rs529400471	6.022e-05	6.02e-05	3.949e-05	8.117e-05	0.0005	4.963e-05	4.628e-05	0.0004	0.0003	0	0.0003	3.826e-05	0	0	0	2.518e-05	6.623e-05	0.0005	6.588e-05	6.568e-05	6.439e-05	6.743e-05	0.0008	3.525e-05	2.622e-05	0.0003	0.0002	7.252e-05	0	0	0	0	0	0	4.415e-05	0	0.0008	0.029	0.45756	D	0.037	0.52389	D	.	.	.	.	.	.	0.007840	0.31171	N	0.150079	1	0.08975	N	.	.	.	-3.17	0.93054	D	-2.18	0.49187	N	0.264	0.29889	0.010	0.82465	D	0.712	0.90123	D	10	0.13943785	0.26512	T	0.036459	0.57003	D	0.313	0.63482	0.543	0.65589	0.910483753794	0.90958	0.6670491479681954	0.66642	0.496559253354	0.48160	0.341797202826	0.16707	T	.	.	.	-0.210981	0.19240	T	-0.191404	0.55458	T	0.0953084900975227	0.11833	T	0.661834	0.27067	T	.	.	.	.	.	.	.	.	-8.787	0.66316	D	.	.	0.247	0.48198	B	.;.	.;.	1.991990	0.25307	16.72	0.97953228418674165	0.37122	0.30926	0.24207	N	AEFDBI	0.041473	0.06309	N	-0.188401938213646	0.33616	1.909204	-0.344618245267457	0.26675	1.475005	0.380525415041232	0.19956	0.554377	0.28877	0	0.588066	0.40923	0	0.507148	0.09336	0	0.530356	0.10902	0	.	.	3.82	1.42	0.21524	0.969000	0.28967	-0.377000	0.09567	-0.144000	0.12334	0.984000	0.35821	0.000000	0.08366	0.377000	0.26268	0.1745:0.0:0.1792:0.6464	5.244	0.14804	799	0.44747	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1455.98	35	chr19	50908801	.	T	C	1455.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.537e+00;DP=818;ExcessHet=0.0000;FS=1.823;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=1.14;SOR=0.954	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1222	20	0	1	0
chr19	51079551	51079551	G	A	exonic	KLK14	.	nonsynonymous SNV	KLK14:NM_001369775:exon4:c.C364T:p.R122W	.	.	424	1064	34	0	0	34	0.0157262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.929	D	.	.	1.000	N	1.87	L	-2.51	D	-0.204	T	0.635	D	0.317	3.097	16.34	0.678	0.395	0.145	6.656	0.220	.	0.0075	0.00419329	0.0083	0.0025	0.0072	0.0001	0.0060	0.0102	0.0084	0.0102	0.0079365	1227	154602	rs112658494	0.0100	0.0100	0.0101	0.0099	0.0137	0.0098	0.0098	0.0113	0.0108	0.0018	0.0060	0.0065	5.038e-05	0.0055	0.0137	0.0110	0.0090	0.0107	0.0074	0.0074	0.0077	0.0071	0.0109	0.0071	0.0069	0.0103	0.0100	0.0024	0.0186	0.0074	0.0075	0.0002	0.0046	0.0238	0.0109	0.0109	0.0104	0.338	0.23183	T	0.017	0.60337	D	0.998	0.73220	D	0.929	0.66367	D	.	.	.	.	1	0.08975	N	1.78	0.46185	L	-2.47	0.89293	D	-3.55	0.74051	D	0.411	0.45142	-0.2042	0.77562	T	0.635	0.87226	D	9	0.014386356	0.00303	T	.	.	.	0.220	0.51569	.	.	0.811110782611	0.80934	0.6282621342850477	0.62759	0.596895955248	0.54907	0.476279169321	0.35544	T	0.372321	0.73653	T	-0.357965	0.04246	T	-0.276581	0.47154	T	0.0444715671153752	0.04506	T	0.434357	0.11884	T	0.20042667	0.42018	0.22102161	0.46898	0.20042667	0.42017	0.22102161	0.46897	-6.713	0.51908	T	.	.	0.210	0.43707	B	.;.;.	.;.;.	3.197651	0.43469	21.7	0.99809278564540604	0.89353	0.09311	0.15093	N	AEFDBCI	0.133143	0.25270	N	-0.240936203016391	0.31467	1.764708	-0.480575321267949	0.22688	1.233621	0.00406709125317699	0.10401	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.81	0.678	0.17136	-0.427000	0.07068	.	.	-0.251000	0.07141	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0928:0.0:0.4488:0.4584	6.656	0.22179	958	0.09170	.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	888.98	33	chr19	51079551	.	G	A	888.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.077;DP=784;ExcessHet=0.0000;FS=1.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.98;ReadPosRankSum=-2.170e-01;SOR=0.493	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,103,1139	20	0	1	0
chr19	51337343	51337343	C	T	exonic	VSIG10L	.	nonsynonymous SNV	VSIG10L:NM_001163922:exon7:c.G2200A:p.V734M,	.	.	418	1099	5	0	0	5	0.00226963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.997	D	0.791	P	0.031	N	0.979	N	1.845	L	1.96	T	-1.077	T	0.079	T	0.254	2.840	15.46	3.72	0.952	1.452	8.126	0.045	0.0535984615257	0.0015	0.000599042	0.0016	0	0	0	0	0.0023	0	0.0015	0.0005175	80	154602	rs201902240	0.0017	0.0017	0.0017	0.0018	0.0042	0.0017	0.0016	0.0029	0.0025	0.0003	0.0004	0.0056	0.0001	0.0005	0.0042	0.0018	0.0014	0.0018	0.0014	0.0014	0.0015	0.0013	0.0023	0.0012	0.0012	0.0020	0.0018	0.0005	0	0.0002	0.0060	0.0004	0.0003	0.0034	0.0023	0.0009	0.0017	0.017	0.51248	D	0.012	0.63918	D	0.997	0.70673	D	0.791	0.57754	P	0.030603	0.25284	N	0.194660	0.978791	0.25225	N	2.135	0.59519	M	1.96	0.22270	T	-1.02	0.26843	N	0.291	0.32921	-1.0771	0.07922	T	0.079	0.31526	T	10	0.009048849	0.00205	T	0.053598	0.65530	D	0.045	0.12272	.	.	0.0611884634855	0.05136	0.49199537965268514	0.49120	.	.	0.540010452271	0.44446	T	0.014558	0.12369	T	-0.497674	0.00589	T	-0.494127	0.22959	T	0.0125632632847029	0.00209	T	0.715628	0.32820	T	0.05394844	0.10284	0.068334304	0.14257	0.05394844	0.10283	0.068334304	0.14257	-5.951	0.45867	T	.	.	0.237	0.47061	B	.	.	3.065167	0.41183	21.3	0.99814673526703024	0.89797	0.47945	0.28096	N	AEFDBI	0.099837	0.20088	N	0.121476361095564	0.47466	2.971915	0.0178535972260213	0.40544	2.421361	0.982761246064069	0.30451	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.76	3.72	0.41857	1.489000	0.35170	.	.	0.596000	0.33519	0.855000	0.30528	0.994000	0.32194	0.074000	0.16894	0.0:0.8834:0.0:0.1166	8.126	0.30161	975	0.05339	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1703.98	36	chr19	51337343	.	C	T	1703.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=835;ExcessHet=0.0000;FS=1.509;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.69;ReadPosRankSum=-4.280e-01;SOR=0.906	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	20	0	1	0
chr19	51338094	51338094	C	G	exonic	VSIG10L	.	nonsynonymous SNV	VSIG10L:NM_001163922:exon6:c.G1844C:p.R615P,	.	.	417	1082	23	0	0	23	0.0105167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.999	D	0.995	D	0.000	D	0.985	D	2.545	M	2.41	T	-0.962	T	0.124	T	0.777	4.347	22.9	5.03	2.345	1.647	13.844	0.178	.	.	0.00299521	0.0083	0.0026	0.0056	0	0.0026	0.0077	0.0135	0.0121	0.0021863	338	154602	rs200590126	0.0062	0.0059	0.0059	0.0064	0.0112	0.0061	0.0060	0.0091	0.0088	0.0009	0.0039	0.0073	2.798e-05	0.0018	0.0112	0.0065	0.0061	0.0096	0.0047	0.0047	0.0050	0.0044	0.0104	0.0044	0.0043	0.0081	0.0073	0.0015	0.0165	0.0050	0.0061	0	0.0011	0.0204	0.0067	0.0076	0.0104	0.022	0.48642	D	0.0	0.92824	D	0.999	0.77913	D	0.995	0.83170	D	0.000262	0.46590	D	0.000000	0.985134	0.40241	D	2.19	0.61577	M	2.41	0.15492	T	-3.75	0.71157	D	0.481	0.51583	-0.9615	0.38897	T	0.124	0.42673	T	10	0.007164091	0.00163	T	.	.	.	0.178	0.44724	.	.	0.117506650769	0.11410	0.9052432194662495	0.90497	.	.	0.612644076347	0.54690	T	0.121906	0.44520	T	-0.32016	0.06885	T	-0.22034	0.52704	T	0.0243673031474889	0.01191	T	0.69643	0.30590	T	0.80447996	0.84193	0.6295817	0.78395	0.80447996	0.84195	0.6295817	0.78396	-9.013	0.67781	D	.	.	0.845	0.79494	P	.	.	4.354890	0.66921	25.0	0.99791497073151891	0.87750	0.89768	0.50448	D	AEFDBI	0.531603	0.55181	D	0.623946875957094	0.74690	6.176048	0.566918533478033	0.72581	5.83268	0.999999940042173	0.74766	0.787689	0.99735	0	0.588066	0.40923	0	0.0	0.00061	3	0.567892	0.33627	0	.	.	5.03	5.03	0.67015	1.243000	0.32370	.	.	0.596000	0.33519	0.758000	0.29220	0.995000	0.32472	0.801000	0.37776	0.0:1.0:0.0:0.0	13.844	0.62956	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1752.98	34	chr19	51338094	.	C	G	1752.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.903e+00;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.51;ReadPosRankSum=0.027;SOR=0.722	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1274	20	0	1	0
chr19	51340472	51340472	A	T	exonic	VSIG10L	.	nonsynonymous SNV	VSIG10L:NM_001163922:exon3:c.T1150A:p.F384I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.997	D	0.995	D	.	.	0.993	N	0	N	-0.8	T	-0.801	T	0.293	T	0.33	2.597	14.65	3.04	1.256	4.246	7.509	0.273	0.463025943619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.949e-06	4.788e-06	2.894e-06	3.007e-06	3.772e-06	6.9e-07	4.7e-07	8.8e-07	6e-07	0	0	0	0	0	0	3.772e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.0	0.92824	D	0.997	0.70673	D	0.995	0.83170	D	.	.	.	.	0.993433	0.23712	N	1.59	0.40313	L	-0.8	0.73845	T	-0.91	0.24460	N	0.399	0.43995	-0.8015	0.55056	T	0.293	0.66498	T	9	0.39501184	0.55163	T	0.463026	0.94547	D	0.273	0.58883	0.379	0.39482	0.363356657567	0.35953	0.44968346313313673	0.44886	.	.	0.750316739082	0.74493	T	0.002845	0.02237	T	-0.0320332	0.47121	T	-0.28379	0.46414	T	0.788107074534072	0.45566	D	0.50435	0.15896	T	0.13304906	0.30960	0.20910308	0.45241	0.13304906	0.30959	0.20910308	0.45240	-6.028	0.46514	T	.	.	0.820	0.78216	P	.	.	4.430486	0.68699	25.3	0.98458956847333245	0.41711	0.89783	0.50473	D	ALL	0.349606	0.44334	N	0.0508376483490407	0.44181	2.696883	0.016642393607275	0.40488	2.417049	0.999999883381844	0.74766	0.455138	0.09556	0	0.606814	0.50340	0	0.503968	0.08637	0	0.56751	0.32155	0	.	.	3.04	3.04	0.34171	0.990000	0.29242	.	.	0.579000	0.29447	0.999000	0.42656	1.000000	0.68203	0.610000	0.31640	1.0:0.0:0.0:0.0	7.509	0.26729	976	0.04745	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	995.98	76	chr19	51340472	.	A	T	995.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.260e-01;DP=1466;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.27;ReadPosRankSum=1.45;SOR=0.620	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	20	0	1	0
chr19	51415921	51415921	C	T	exonic	SIGLEC10	.	nonsynonymous SNV	SIGLEC10:NM_001171156:exon5:c.G827A:p.R276Q	.	.	406	1115	1	0	0	1	0.000448229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.903	P	0.49	P	0.676	N	1.000	N	1.31	L	-0.22	T	-0.916	T	0.186	T	0.213	2.636	14.77	-0.49	0.451	0.160	1.811	0.109	0.0260397640435	0.0004	0.00119808	0.0003	0.0006	0.0003	0.0001	0.0003	0.0004	0	0.0002	0.0003622	56	154602	rs143183042	0.0003	0.0003	0.0003	0.0003	0.0008	0.0003	0.0002	0.0003	0.0003	8.982e-05	0.0001	3.826e-05	0.0005	0.0001	0.0008	0.0003	0.0003	0.0002	0.0003	0.0003	0.0002	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	0.0001	0	6.533e-05	0.0003	0.0002	0	0	0.0004	0.0009	0.0004	0.44	0.26852	T	0.622	0.34477	T	0.764	0.46778	P	0.212	0.43079	B	0.675948	0.10300	N	0.829753	1	0.08975	N	1.88	0.49984	L	-0.22	0.66474	T	-1.9	0.51811	N	0.153	0.18376	-0.9157	0.46129	T	0.186	0.53601	T	10	0.019243777	0.00427	T	0.02604	0.48976	D	0.109	0.30843	.	.	0.661991603742	0.65915	0.3174314332620003	0.31656	.	.	0.264964997768	0.05497	T	0.052337	0.29133	T	-0.370192	0.03584	T	-0.453375	0.27325	T	0.0439015832343278	0.04403	T	0.039996	0.00576	T	0.060906645	0.12551	0.06064661	0.11584	0.060906645	0.12551	0.06064661	0.11584	-7.431	0.58569	T	.	.	0.090	0.15296	B	.;.;.;.;.;.	.;.;.;.;.;.	1.929404	0.24505	16.42	0.99775304006682908	0.86260	0.01521	0.05017	N	AEFDBI	0.102492	0.20559	N	-0.546242226982312	0.20601	1.087241	-0.658708700406368	0.17997	0.9594736	0.776773686024511	0.23765	0.706298	0.61202	0	0.709663	0.81188	0	0.49644	0.08281	0	0.564101	0.26826	0	.	.	4.37	-0.49	0.11448	0.019000	0.13337	.	.	-0.314000	0.05961	0.000000	0.06391	0.000000	0.08366	0.335000	0.25317	0.3586:0.3558:0.1754:0.1103	1.811	0.02903	976	0.04745	.;.;.;.;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1168.98	36	chr19	51415921	.	C	T	1168.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.000e-01;DP=1345;ExcessHet=0.0000;FS=0.722;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.28;MQRankSum=-4.544e+00;QD=10.82;ReadPosRankSum=-1.048e+00;SOR=0.577	GT:AD:DP:GQ:PL	0/0:75,0:75:99:0,120,1800	20	0	1	0
chr19	51481533	51481533	A	G	exonic	CEACAM18	.	nonsynonymous SNV	CEACAM18:NM_001278392:exon3:c.A541G:p.M181V,	.	.	427	1094	0	1	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.107	B	0.035	B	.	.	1.000	N	1.76	L	-0.91	T	-0.855	T	0.264	T	0.145	0.270	5.460	1.65	0.441	0.390	5.800	0.046	0.00563856073738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.25560	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.34	0.67151	M	.	.	.	-1.46	0.35792	N	0.121	0.11197	-0.8549	0.51627	T	0.264	0.63523	T	9	0.09203452	0.16172	T	0.005639	0.14591	T	0.046	0.12618	.	.	0.104622674875	0.10061	0.4233184182931337	0.42248	.	.	0.42408272624	0.28399	T	0.003948	0.03363	T	-0.198369	0.21042	T	-0.52272	0.20019	T	0.0989541778338474	0.12241	T	0.433757	0.11839	T	0.12933953	0.30211	0.26560628	0.52395	0.12933953	0.30211	0.26560628	0.52394	-5.141	0.38336	T	.	.	0.129	0.27642	B	.	.	0.343458	0.07169	3.755	0.42481047633239333	0.03134	0.00829	0.03338	N	AEFBCI	0.046578	0.07750	N	-0.859465106758912	0.11817	0.5724291	-0.96492854784367	0.10579	0.5336915	8.47715955087491E-4	0.07902	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.72	1.65	0.23015	0.137000	0.15816	.	.	0.704000	0.85292	0.068000	0.22015	0.001000	0.17328	0.005000	0.06747	0.7234:0.2766:0.0:0.0	5.800	0.17673	964	0.07719	Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2501.98	41	chr19	51481533	.	A	G	2501.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.817;DP=1025;ExcessHet=0.0000;FS=8.001;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=0.569;SOR=0.995	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,108,1620	20	0	1	0
chr19	51491780	51491780	G	A	exonic	SIGLEC12	.	nonsynonymous SNV	SIGLEC12:NM_033329:exon7:c.C1295T:p.P432L	.	.	407	1085	30	0	0	30	0.0136364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.978	D	0.411	B	.	.	1.000	N	2.02	M	0.86	T	-0.993	T	0.113	T	0.197	0.839	8.389	-0.29	0.026	-0.678	3.308	0.029	.	0.0029	0.00339457	0.0065	0.0007	0.0037	0	0.0008	0.0045	0.0197	0.0294	0.0059378	918	154602	rs148583756	0.0043	0.0043	0.0036	0.0050	0.0250	0.0042	0.0042	0.0241	0.0238	0.0007	0.0032	0.0226	7.577e-05	0.0008	0.0123	0.0026	0.0055	0.0250	0.0033	0.0033	0.0030	0.0036	0.0216	0.0030	0.0029	0.0183	0.0170	0.0008	0.0011	0.0028	0.0237	0.0002	0.0003	0.0136	0.0032	0.0033	0.0216	0.039	0.42487	D	0.004	0.74150	D	0.059	0.58756	B	0.012	0.44827	B	.	.	.	.	1	0.08975	N	1.565	0.39561	L	0.86	0.46777	T	-3.03	0.62747	D	0.076	0.12627	-0.9929	0.31853	T	0.113	0.40307	T	9	0.005008042	0.00108	T	.	.	.	0.029	0.06676	.	.	0.320256813643	0.31633	0.0927146187490486	0.09203	0.0467582809392	0.05084	0.319799989462	0.13390	T	0.007289	0.06705	T	-0.585534	0.00178	T	-0.594259	0.13300	T	0.00936255406809378	0.00120	T	0.437456	0.12031	T	0.03649728	0.04500	0.053342342	0.08965	0.03649728	0.04499	0.053342342	0.08964	-4.158	0.26141	T	.	.	0.076	0.05935	B	.;.	.;.	0.360670	0.07334	3.949	0.90402295192980797	0.19663	0.00442	0.02154	N	AEFDBI	0.047985	0.08140	N	-0.746523125541995	0.14728	0.7361206	-0.955227494355757	0.10802	0.54642	8.23005530856632E-5	0.04703	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.08	-0.29	0.12211	-0.494000	0.06532	.	.	-0.121000	0.13915	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.174:0.276:0.5501:0.0	3.308	0.06595	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	6049.68	113	chr19	51491780	.	G	A	6049.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.498;DP=1268;ExcessHet=0.3300;FS=1.211;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=15.28;ReadPosRankSum=0.613;SOR=0.763	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1329	18	0	3	0
chr19	51499211	51499211	G	A	exonic	SIGLEC12	.	nonsynonymous SNV	SIGLEC12:NM_033329:exon3:c.C740T:p.P247L	.	.	.	.	.	.	.	.	.	.	.	2225236	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.914	P	0.828	P	0.005	U	1.000	N	2.055	M	0.32	T	-0.880	T	0.244	T	0.138	2.484	14.26	1.15	1.275	1.088	4.190	0.123	0.013984182654	.	.	.	.	.	.	.	.	.	.	.	.	.	rs912348133	1.3e-05	1.3e-05	1.089e-05	1.513e-05	0.0002	8.31e-06	6.7e-06	6.51e-05	4.449e-05	0	0	0	0.0002	0	0	7.195e-06	1.656e-05	4.637e-05	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.013	0.53900	D	0.023	0.57104	D	0.866	0.50529	P	0.659	0.59497	P	0.005427	0.32805	U	0.000000	1	0.08975	N	3.04	0.86592	M	0.32	0.58468	T	-8.68	0.97599	D	0.251	0.33250	-0.8798	0.49778	T	0.244	0.61260	T	10	0.23910692	0.41045	T	0.013984	0.33782	T	0.123	0.34020	0.597	0.72739	0.486282253068	0.48261	0.418256791949938	0.41741	0.253986170498	0.27969	0.403607428074	0.25571	T	0.054355	0.29701	T	-0.354934	0.04425	T	-0.44729	0.27997	T	0.548283803077508	0.34413	D	0.813119	0.46553	T	0.1726368	0.37965	0.14592706	0.34591	0.1726368	0.37965	0.14592706	0.34590	-6.603	0.51076	T	.	.	0.248	0.48313	B	.;.	.;.	1.876313	0.23830	16.17	0.99157182565424429	0.53987	0.02384	0.06771	N	AEFDGBI	0.043759	0.06956	N	-0.215617859140758	0.32493	1.833036	-0.447756755145643	0.23612	1.288598	0.0212500163131898	0.13332	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.22	1.15	0.19876	1.316000	0.33226	.	.	0.579000	0.29447	0.046000	0.21249	0.000000	0.08366	0.452000	0.27939	0.2114:0.0:0.7886:0.0	4.190	0.09877	921	0.19240	Immunoglobulin-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1886.98	56	chr19	51499211	.	G	A	1886.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=1308;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.68;ReadPosRankSum=0.936;SOR=0.731	GT:AD:DP:GQ:PL	0/1:116,79:195:99:1901,0,2826	20	0	1	0
chr19	51612348	51612348	T	C	exonic	SIGLEC5	.	nonsynonymous SNV	SIGLEC5:NM_001384708:exon8:c.A1457G:p.K486R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.02381	1426.98	33	chr19	51612348	.	T	C	1426.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.323;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.34;ReadPosRankSum=1.14;SOR=0.669	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	20	0	1	0
chr19	51627999	51627999	G	T	exonic	SIGLEC5	.	nonsynonymous SNV	SIGLEC5:NM_001384708:exon5:c.C832A:p.H278N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.004	B	0.013	B	0.000	N	1.000	N	0.16	N	2.81	T	-0.987	T	0.015	T	0.094	0.912	8.710	-5.41	-1.097	-2.368	7.104	0.005	0.00507851968345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	0.07746	T	0.473	0.12142	T	0.004	0.12183	B	0.013	0.16460	B	0.000341	0.00575	N	5.274230	1	0.08975	N	-0.005	0.05143	N	2.81	0.10975	T	0.35	0.03761	N	0.098	0.07949	-0.9873	0.33273	T	0.015	0.05994	T	10	0.09958866	0.18081	T	0.005079	0.12877	T	0.005	0.00259	0.263	0.20788	0.110078149338	0.10416	0.0733372033612451	0.07270	.	.	0.253775537014	0.04176	T	5.5E-4	0.00219	T	-0.385736	0.02865	T	-0.791859	0.02114	T	0.146650433540344	0.16834	T	0.166983	0.01553	T	0.039566014	0.05485	0.041598573	0.04765	0.039566014	0.05485	0.041598573	0.04765	-4.079	0.24980	T	.	.	0.087	0.11654	B	.;.;.	.;.;.	-1.074111	0.00672	0.019	0.84508867679453736	0.15333	0.00219	0.01238	N	AEFBI	0.026621	0.02031	N	-1.60943526049171	0.01218	0.05296869	-1.66933723587684	0.01279	0.05768488	0.999772864628734	0.42865	0.615465	0.37627	0	0.633656	0.55848	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.76	-5.41	0.02442	-2.908000	0.00767	.	.	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.343000	0.25501	0.0:0.2343:0.5563:0.2095	7.104	0.24529	982	0.03397	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1250.98	65	chr19	51627999	.	G	T	1250.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=884;ExcessHet=0.0000;FS=6.727;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=-1.145e+00;SOR=1.353	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr19	51643372	51643372	C	T	exonic	SIGLEC14	.	nonsynonymous SNV	SIGLEC14:NM_001098612:exon7:c.G1174A:p.A392T,	.	.	487	1029	6	0	0	6	0.00290698	.	.	2195096	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	0.0	B	0.001	B	0.000	U	1.000	N	0	N	1.74	T	-1.039	T	0.029	T	0.057	1.425	10.70	-2.67	-0.435	-2.302	1.297	0.028	0.00157368915475	8.6e-05	.	0.0001	0	0.0002	0	0	0.0001	0	0.0003	9.7e-05	15	154602	rs371800454	0.0001	0.0001	0.0001	0.0001	0.0065	0.0001	0.0001	0.0048	0.0042	0.0003	0.0001	0	0	0	0.0065	9.77e-05	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	2.857e-05	0	0.0003	0	0	0	0.0106	0.0003	0	0.0003	0.029	0.45756	D	0.043	0.49942	D	0.0	0.02946	B	0.001	0.04355	B	0.000012	0.00162	U	665.863000	1	0.08975	N	0	0.06538	N	1.74	0.26301	T	-0.13	0.08971	N	0.009	0.00081	-1.0388	0.17678	T	0.029	0.12453	T	10	0.033634394	0.01546	T	0.001574	0.02497	T	0.028	0.06331	.	.	0.0138822411134	0.00435	0.07449735793064097	0.07385	0.119995550461	0.13513	0.411763131618	0.26700	T	0.003392	0.02798	T	-0.598541	0.00149	T	-0.802705	0.01835	T	0.0352791287004948	0.02857	T	0.371663	0.08799	T	0.04323881	0.06702	0.059426215	0.11150	0.04323881	0.06702	0.059426215	0.11149	-4.909	0.35836	T	.	.	0.090	0.12702	B	.	.	-0.154163	0.03334	0.584	0.73269596383038282	0.10267	0.00495	0.02340	N	AEFBI	0.046784	0.07808	N	-1.60188796165974	0.01255	0.05460343	-1.66483887558421	0.01301	0.05869475	0.260317560575781	0.18782	0.615465	0.37627	0	0.633656	0.55848	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.64	-2.67	0.05703	-2.197000	0.01325	.	.	-0.834000	0.02848	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3802:0.3079:0.1868:0.1251	1.297	0.01947	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	629.71	42	chr19	51643372	.	C	T	629.71	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.809;DP=765;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0270;MLEAC=1;MLEAF=0.026;MQ=60.00;MQRankSum=0.00;QD=6.56;ReadPosRankSum=-1.038e+00;SOR=0.711	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1072	18	0	1	2
chr19	51713447	51713447	C	G	exonic	HAS1	.	nonsynonymous SNV	HAS1:NM_001297436:exon5:c.G1714C:p.G572R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.896	P	0.608	P	0.069	U	0.987	N	0.805	L	1.57	T	-1.076	T	0.065	T	0.224	0.790	8.163	2.71	1.820	0.492	11.583	0.040	0.110888291293	.	.	.	.	.	.	.	.	.	.	.	.	.	rs936793816	3.604e-06	4.104e-06	1.418e-06	5.863e-06	6.437e-05	1.06e-06	7.7e-07	1.066e-05	3.99e-06	6.437e-05	0	0	0	0	0	2.794e-06	0	0	6.57e-06	6.566e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.527	0.07093	T	0.187	0.28764	T	0.834	0.49324	P	0.403	0.51027	B	0.069130	0.21625	U	0.438237	0.987463	0.24514	N	0.755	0.19153	N	1.56	0.29602	T	-2.04	0.46842	N	0.281	0.31814	-1.0757	0.08205	T	0.065	0.27017	T	10	0.14891073	0.28190	T	0.110888	0.78845	D	0.040	0.10527	0.285	0.24280	0.361958692863	0.35806	0.5480903252065593	0.54735	0.0843459480316	0.09530	0.724208056927	0.70660	T	0.213008	0.57420	T	-0.243019	0.14966	T	-0.586856	0.13939	T	0.306362059020614	0.25265	T	0.846115	0.52582	T	0.09445855	0.22208	0.13385594	0.32088	0.09445855	0.22208	0.13385594	0.32087	-3.608	0.17973	T	.	.	0.19	0.40842	B	.;.;.	.;.;.	2.586808	0.33551	19.37	0.97579802945338245	0.34731	0.14208	0.18280	N	AEFBHCI	0.080018	0.16172	N	-0.389337451425088	0.25847	1.406206	-0.466639973214028	0.23078	1.256751	0.544089748654503	0.21278	0.580535	0.33130	0	0.514364	0.08380	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	2.71	2.71	0.31092	0.528000	0.22711	.	.	0.519000	0.23678	0.001000	0.13787	1.000000	0.68203	0.932000	0.46971	0.0:1.0:0.0:0.0	11.583	0.50155	976	0.04745	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2136.98	34	chr19	51713447	.	C	G	2136.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.092e+00;DP=1001;ExcessHet=0.0000;FS=1.193;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=-7.800e-01;SOR=0.583	GT:AD:DP:GQ:PL	0/0:75,0:75:99:0,120,1800	20	0	1	0
chr19	51713450	51713450	C	T	exonic	HAS1	.	nonsynonymous SNV	HAS1:NM_001297436:exon5:c.G1711A:p.G571R	.	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.873	P	0.197	B	0.006	U	1.000	N	0.895	L	1.52	T	-1.026	T	0.045	T	0.238	1.014	9.143	2.71	1.820	1.203	11.583	0.068	0.0845409662134	.	0.000199681	0.0002	0	0	0	0	0	0.0026	0.0026	0.00011	17	154602	rs528538024	7.047e-05	7.456e-05	3.822e-05	0.0001	0.0012	5.916e-05	5.436e-05	0.0010	0.0009	0	0	0	0	0	0	1.86e-06	7.004e-05	0.0012	2.625e-05	2.624e-05	1.285e-05	4.026e-05	0.0006	8.13e-06	5.14e-06	0.0002	8.989e-05	0	0	6.531e-05	0	0	0	0	0	0	0.0006	0.035	0.43708	D	0.057	0.46406	T	0.799	0.47975	P	0.097	0.36707	B	0.005686	0.32589	U	0.256113	0.999995	0.18198	N	1.01	0.25309	L	1.52	0.30669	T	-1.64	0.39314	N	0.243	0.27435	-1.0257	0.21853	T	0.045	0.19397	T	10	0.014328599	0.00302	T	0.084541	0.74347	D	0.068	0.19811	0.324	0.30549	0.372993862945	0.36913	0.4516436459496785	0.45082	0.0843459480316	0.09530	0.76722407341	0.77008	T	0.186596	0.53994	T	-0.504711	0.00538	T	-0.538292	0.18465	T	0.066095270216465	0.08092	T	0.846115	0.52582	T	0.10565668	0.24982	0.18250415	0.41181	0.10565668	0.24982	0.18250415	0.41180	-3.629	0.18277	T	.	.	0.147	0.34558	B	.;.;.	.;.;.	2.875563	0.38040	20.6	0.95598641082428248	0.27331	0.18073	0.20108	N	AEFBHCI	0.122357	0.23745	N	-0.528297144592386	0.21170	1.121494	-0.633474213013324	0.18635	0.9963819	0.870973331538647	0.25416	0.580535	0.33130	0	0.514364	0.08380	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	2.71	2.71	0.31092	1.551000	0.35841	.	.	0.515000	0.23462	0.008000	0.17931	1.000000	0.68203	0.871000	0.41478	0.0:1.0:0.0:0.0	11.583	0.50155	976	0.04745	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1341.98	34	chr19	51713450	.	C	T	1341.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.195;DP=958;ExcessHet=0.0000;FS=1.387;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.80;ReadPosRankSum=-8.610e-01;SOR=0.534	GT:AD:DP:GQ:PL	0/0:75,0:75:99:0,120,1800	20	0	1	0
chr19	51746559	51746559	T	C	exonic	FPR1	.	nonsynonymous SNV	FPR1:NM_002029:exon2:c.A436G:p.I146V	.	.	.	.	.	.	.	.	.	.	.	3171625	Gingival_disorder|not_specified	MONDO:MONDO:0002021,MedGen:C0017563|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.053	B	0.085	B	0.048	N	0.995	N	0.765	N	-0.84	T	-0.953	T	0.172	T	0.187	-0.718	0.914	2.63	1.596	-0.024	4.243	0.173	0.0106106838152	.	.	5.767e-05	0	0	0.0008	0	0	0	0	4.53e-05	7	154602	rs756459168	6.841e-06	6.84e-06	6.806e-06	6.875e-06	0.0003	3.46e-06	2.52e-06	0.0001	0.0001	0	0	0	0.0003	0	0	0	0	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	0.0004	2.19e-06	8.2e-07	6.813e-05	2.852e-05	0	0	0	0	0.0004	0	0	0	0	0	0.422	0.09776	T	1.0	0.01155	T	0.053	0.22573	B	0.085	0.29395	B	0.048202	0.23273	N	0.400535	0.994779	0.23445	N	1.475	0.37068	L	-0.84	0.74265	T	0.02	0.06739	N	0.018	0.00252	-0.9529	0.40468	T	0.172	0.51484	T	10	0.16599911	0.31012	T	0.010611	0.27345	T	0.173	0.43840	0.774	0.90002	0.587297536726	0.58404	0.38412873956227883	0.38327	0.273506257707	0.29848	0.317508012056	0.13043	T	0.050815	0.28703	T	-0.412801	0.01904	T	-0.44752	0.27971	T	0.0439304533764529	0.04408	T	0.647135	0.25820	T	0.056459147	0.11112	0.051312342	0.08232	0.056459147	0.11112	0.051312342	0.08232	-3.208	0.12579	T	.	.	0.108	0.22391	B	.;.;.	.;.;.	0.435442	0.08059	4.780	0.61810473001100164	0.06803	0.05502	0.11389	N	AEFBI	0.092246	0.18677	N	-0.82161736313395	0.12758	0.6239719	-0.765901362769023	0.15333	0.8058361	0.901431601168956	0.26101	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.66	2.63	0.30420	0.154000	0.16160	.	.	0.645000	0.52629	0.000000	0.06391	0.001000	0.17328	0.179000	0.21265	0.0:0.2545:0.0:0.7455	4.243	0.10112	970	0.06235	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	82.39	108	chr19	51746559	.	T	C	82.39	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.607e+00;DP=2864;ExcessHet=0.1072;FS=174.148;InbreedingCoeff=-0.0575;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.22;ReadPosRankSum=1.54;SOR=9.524	GT:AD:DP:GQ:PL	0/0:105,0:105:99:0,120,1800	19	0	2	0
chr19	51824806	51824806	T	C	exonic	FPR3	.	nonsynonymous SNV	FPR3:NM_002030:exon2:c.T1058C:p.M353T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.309	B	0.026	B	0.564	N	1.000	N	1.79	L	-0.47	T	-0.798	T	0.253	T	0.321	0.799	8.204	1.82	1.090	1.715	5.672	0.098	0.0119373452934	.	0.000199681	0.0002	0	0	0	0	0	0	0.0012	0.00011	17	154602	rs560962882	5.782e-05	5.746e-05	2.462e-05	9.147e-05	0.0009	4.773e-05	4.393e-05	0.0008	0.0007	0	0	0	0	0	0	9.035e-07	6.67e-05	0.0009	1.971e-05	1.969e-05	0	4.032e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.996e-05	0	0	0	0	0	0	0	0	0	0.0006	0.009	0.57480	D	0.022	0.57587	D	0.309	0.32767	B	0.026	0.20792	B	0.564420	0.05443	N	1.274790	0.999955	0.19072	N	1.04	0.26193	L	-0.47	0.70133	T	-1.16	0.29727	N	0.294	0.34012	-0.7979	0.55268	T	0.253	0.62337	T	10	0.02584964	0.00767	T	0.011937	0.30057	T	0.098	0.28162	0.392	0.41606	0.574600906166	0.57128	0.19296135988194146	0.19214	0.369400020722	0.38465	0.425458967686	0.28588	T	0.019709	0.15652	T	-0.364005	0.03909	T	-0.346085	0.39653	T	0.0623072370660091	0.07527	T	0.380662	0.09189	T	0.39829028	0.60613	0.27785495	0.53741	0.39829028	0.60614	0.27785495	0.53740	-3.218	0.12701	T	.	.	0.164	0.37558	B	.;.	.;.	1.356797	0.17649	13.29	0.50821826516277813	0.04452	0.44454	0.27322	N	AEFDBIJ	0.066586	0.13047	N	-0.609195801976198	0.18668	0.9709869	-0.715537063651702	0.16574	0.8774163	0.990481726101559	0.32168	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.82	1.82	0.24209	0.810000	0.26841	.	.	0.593000	0.32247	0.271000	0.25055	0.000000	0.08366	0.029000	0.12982	0.0:0.0:0.0:1.0	5.672	0.16999	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1133.98	39	chr19	51824806	.	T	C	1133.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.493e+00;DP=961;ExcessHet=0.0000;FS=4.900;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=2.02;SOR=1.349	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,102,1530	20	0	1	0
chr19	51965274	51965274	T	G	exonic	ZNF350	.	nonsynonymous SNV	ZNF350:NM_021632:exon5:c.A1179C:p.Q393H,	.	.	386	1122	12	2	0	16	0.00707965	.	.	2818707	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.04	D	0.059	B	0.042	B	0.003	N	1.000	N	1.755	L	3.18	T	-1.022	T	0.021	T	0.329	1.806	12.00	-3.03	-0.683	-2.114	10.996	0.055	0.00145382532368	0.0014	0.00139776	0.0017	0.0002	0.0008	0	0.0005	0.0014	0	0.0061	0.0016623	257	154602	rs4988335	0.0017	0.0017	0.0016	0.0017	0.0085	0.0016	0.0016	0.0066	0.0059	0.0002	0.0008	0.0001	2.519e-05	0.0003	0.0085	0.0015	0.0022	0.0055	0.0011	0.0011	0.0011	0.0012	0.0046	0.0010	0.0009	0.0031	0.0026	0.0004	0	0.0008	0	0	0.0002	0.0034	0.0017	0	0.0046	0.058	0.37750	T	0.073	0.43159	T	0.059	0.23051	B	0.042	0.24114	B	0.003175	0.35330	N	0.000000	0.999981	0.18198	N	1.555	0.39373	L	3.18	0.07478	T	-3.84	0.72240	D	0.183	0.19861	-1.0223	0.22965	T	0.021	0.08732	T	10	0.007285595	0.00166	T	0.001454	0.02189	T	0.055	0.15663	0.554	0.67133	0.117506650769	0.11410	0.13985376483419276	0.13908	0.744836898648	0.63452	0.479540765285	0.35993	T	0.108632	0.42184	T	-0.558061	0.00261	T	-0.572196	0.15249	T	0.0498061578783311	0.05466	T	0.447355	0.12562	T	0.35781085	0.57669	0.27973923	0.53944	0.35781085	0.57669	0.27973923	0.53943	-5.577	0.42582	T	.	.	0.823	0.78383	P	.	.	1.392598	0.18056	13.52	0.98199288933276874	0.39105	0.19220	0.20575	N	AEFDBCI	0.077809	0.15685	N	-0.847201414148941	0.12119	0.5888097	-0.920739106781187	0.11605	0.5922507	6.92460446046409E-4	0.07645	0.631515	0.41029	0	0.697927	0.68747	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.41	-3.03	0.05100	-2.109000	0.01422	.	.	0.601000	0.45875	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.0:0.615:0.0:0.385	10.996	0.46792	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1801.98	39	chr19	51965274	.	T	G	1801.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.929;DP=1380;ExcessHet=0.0000;FS=0.725;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.09;ReadPosRankSum=1.22;SOR=0.813	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1113	20	0	1	0
chr19	52016813	52016813	T	C	exonic	ZNF614	.	nonsynonymous SNV	ZNF614:NM_025040:exon5:c.A785G:p.N262S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.001	B	.	.	1.000	N	-0.055	N	1.67	T	-1.029	T	0.025	T	0.003	-2.169	0.005	-7.53	-3.381	-7.165	7.578	0.030	0.00109771484624	7.7e-05	.	5.783e-05	0	0	0	0	6.012e-05	0	0.0002	5.17e-05	8	154602	rs374687937	4.173e-05	4.173e-05	3.539e-05	4.813e-05	0.0002	3.311e-05	3.001e-05	5.396e-05	4.042e-05	0	0	0	2.52e-05	0	0.0002	3.867e-05	0.0001	0.0001	1.315e-05	1.315e-05	1.286e-05	1.346e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	1.0	0.00964	T	0.865	0.03361	T	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.775	0.01662	N	1.67	0.27331	T	-0.26	0.11185	N	0.031	0.00770	-1.0293	0.20681	T	0.025	0.10509	T	9	0.03149745	0.01285	T	0.001098	0.01312	T	0.030	0.07022	.	.	0.223146558224	0.21909	0.008372651243346766	0.00801	0.0967634086437	0.10922	0.212112039328	0.00904	T	9.02E-4	0.00463	T	-0.635149	0.00089	T	-0.890445	0.00572	T	0.0133221228782114	0.00239	T	0.0149985	0.00083	T	0.017791152	0.00303	0.027464708	0.00901	0.017791152	0.00303	0.027464708	0.00901	-3.837	0.21358	T	.	.	0.06	0.00934	B	.	.	-1.717567	0.00187	0.003	0.13268510744211651	0.00256	0.00548	0.02514	N	AEFBCI	0.018929	0.00614	N	-2.41604406422306	0.00025	0.001076475	-2.4921474431776	0.00024	0.001064354	0.999250501740003	0.38906	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.76	-7.53	0.01194	-4.575000	0.00246	.	.	-2.480000	0.00270	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1808:0.2095:0.0:0.6097	7.578	0.27115	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2313.98	34	chr19	52016813	.	T	C	2313.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.26;DP=1568;ExcessHet=0.0000;FS=1.691;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=-1.822e+00;SOR=0.556	GT:AD:DP:GQ:PL	0/0:90,0:90:99:0,120,1800	20	0	1	0
chr19	52034081	52034081	C	T	exonic	ZNF432	.	nonsynonymous SNV	ZNF432:NM_001322284:exon5:c.G1598A:p.R533Q	.	.	402	1114	6	0	0	6	0.00268577	.	.	705216	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.04	D	0.988	D	0.569	P	.	.	1.000	N	2.345	M	1.84	T	-1.070	T	0.049	T	0.158	3.405	17.50	2.81	1.577	-1.922	9.779	0.118	.	0.0089	0.00579073	0.0074	0.0026	0.0054	0.0001	0.0178	0.0100	0.0154	0.0007	0.0077101	1192	154602	rs117633649	0.0090	0.0090	0.0090	0.0089	0.0113	0.0088	0.0088	0.0096	0.0096	0.0016	0.0083	0.0013	5.038e-05	0.0201	0.0113	0.0098	0.0090	0.0008	0.0079	0.0079	0.0073	0.0086	0.0160	0.0075	0.0074	0.0144	0.0137	0.0019	0.0110	0.0160	0.0006	0.0002	0.0201	0.0068	0.0092	0.0099	0.0010	0.013	0.53900	D	0.027	0.55341	D	0.988	0.62325	D	0.569	0.49832	P	.	.	.	.	0.999734	0.20548	N	1.165	0.29723	L	1.84	0.24656	T	-2.89	0.60665	D	0.185	0.26837	-1.0703	0.09348	T	0.049	0.20750	T	9	0.0055719614	0.00123	T	.	.	.	0.118	0.32913	.	.	0.298056030225	0.29408	0.06553176725640754	0.06492	0.313201615579	0.33613	0.413404345512	0.26928	T	0.102706	0.41069	T	-0.566776	0.00231	T	-0.576523	0.14858	T	0.0355470686176569	0.02901	T	0.275372	0.04709	T	0.2838641	0.51416	0.24361204	0.49809	0.2838641	0.51416	0.24361204	0.49808	-6.198	0.47907	T	.	.	0.403	0.59854	A	.;.	.;.	3.605418	0.50945	23.0	0.99951997338411658	0.99951	0.00131	0.00809	N	AEFDGBHCI	0.143086	0.26570	N	0.0608843360165002	0.44645	2.734748	-0.0710903196948234	0.36591	2.131401	0.30805057368628	0.19258	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.81	2.81	0.31971	-1.130000	0.03353	.	.	0.463000	0.21641	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.0:0.7867:0.2133:0.0	9.779	0.39806	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1136.98	33	chr19	52034081	.	C	T	1136.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.647;DP=787;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=-5.270e-01;SOR=0.737	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1156	20	0	1	0
chr19	52115218	52115218	C	T	exonic	ZNF616	.	nonsynonymous SNV	ZNF616:NM_178523:exon4:c.G1946A:p.R649K,	.	.	409	1081	30	2	0	34	0.0154827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.003	B	0.001	B	.	.	1.000	N	-0.255	N	.	.	-1.033	T	0.023	T	0.048	0.379	6.060	-3.85	-1.759	-5.613	5.340	0.003	.	0.0044	0.00419329	0.0049	0.0011	0.0039	0	0.0002	0.0062	0.0088	0.0068	0.0047541	735	154602	rs45622033	0.0057	0.0057	0.0057	0.0058	0.0130	0.0056	0.0056	0.0106	0.0098	0.0007	0.0049	0.0051	0	0.0004	0.0130	0.0063	0.0057	0.0068	0.0042	0.0042	0.0043	0.0041	0.0065	0.0039	0.0038	0.0060	0.0058	0.0008	0	0.0060	0.0046	0	0.0006	0.0204	0.0065	0.0071	0.0064	.	.	.	0.531	0.10069	T	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.425	0.12573	N	3.22	0.07024	T	.	.	.	0.056	0.02759	-1.0327	0.19586	T	0.023	0.09878	T	8	0.004916489	0.00105	T	.	.	.	.	.	.	.	0.136095386433	0.13204	0.03217921690351515	0.03165	0.0669319524144	0.07465	0.216768398881	0.01132	T	8.08E-4	0.00390	T	-0.771328	0.00013	T	-0.876731	0.00682	T	0.00221911122000697	0.00023	T	0.80082	0.44648	T	0.032995433	0.03432	0.04251082	0.05079	0.032995433	0.03432	0.04251082	0.05079	-6.572	0.50839	T	.	.	0.156	0.34536	B	.	.	-0.419110	0.02142	0.206	0.80935089646853298	0.13440	0.00002	0.00064	N	AEFBHCI	0.025855	0.01841	N	-1.6336972419401	0.01105	0.04799848	-1.73896296541276	0.00975	0.04369867	0.0330489298285474	0.14086	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	1.93	-3.85	0.03964	-4.150000	0.00323	.	.	-0.515000	0.04990	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.319:0.2971:0.3839:0.0	5.340	0.15282	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1109.98	33	chr19	52115218	.	C	T	1109.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.621e+00;DP=866;ExcessHet=0.0000;FS=0.739;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.67;ReadPosRankSum=0.683;SOR=0.579	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1265	20	0	1	0
chr19	52115230	52115230	C	T	exonic	ZNF616	.	nonsynonymous SNV	ZNF616:NM_178523:exon4:c.G1934A:p.R645H,	.	.	406	1111	3	2	0	7	0.00314042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.203	B	0.005	B	.	.	1.000	N	-0.335	N	.	.	-0.989	T	0.017	T	0.165	1.229	9.985	-3.24	-0.362	-2.198	5.885	0.053	0.00113530573844	0.0052	0.00299521	0.0049	0.0018	0.0041	0	0.0017	0.0071	0.0088	0.0018	0.0048641	752	154602	rs115812880	0.0054	0.0054	0.0055	0.0054	0.0063	0.0053	0.0053	0.0062	0.0062	0.0020	0.0036	0.0051	2.519e-05	0.0019	0.0019	0.0063	0.0051	0.0016	0.0042	0.0042	0.0047	0.0038	0.0064	0.0040	0.0039	0.0059	0.0057	0.0023	0	0.0045	0.0029	0.0004	0.0017	0.0034	0.0064	0.0052	0.0012	.	.	.	0.332	0.18449	T	0.203	0.29776	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0.67	0.16346	N	3.1	0.08283	T	.	.	.	0.081	0.05670	-0.9885	0.32978	T	0.017	0.06759	T	8	0.0052120388	0.00113	T	0.001135	0.01385	T	.	.	.	.	0.128392430309	0.12331	0.024378407866257255	0.02388	0.0819614160384	0.09232	0.277630388737	0.07164	T	0.008494	0.07800	T	-0.6426	0.00080	T	-0.692101	0.06268	T	0.00408076701414358	0.00043	T	0.909009	0.67793	D	0.016966546	0.00236	0.02800055	0.00997	0.016966546	0.00235	0.02800055	0.00996	-6.181	0.47769	T	.	.	0.175	0.38245	B	.	.	0.449120	0.08191	4.928	0.96342880096096528	0.29490	0.00001	0.00044	N	AEFBHCI	0.048245	0.08212	N	-1.39992508578575	0.02640	0.1168514	-1.4883859324187	0.02439	0.1121814	0.00108969258068814	0.08206	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	2.08	-3.24	0.04779	-1.417000	0.02571	.	.	-0.425000	0.05218	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2414:0.5603:0.1983	5.885	0.18125	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1731.98	33	chr19	52115230	.	C	T	1731.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.540;DP=952;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.08;ReadPosRankSum=0.177;SOR=0.643	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1265	20	0	1	0
chr19	52155811	52155811	G	T	exonic	ZNF836	.	nonsynonymous SNV	ZNF836:NM_001102657:exon5:c.C1872A:p.N624K,	.	.	399	1121	2	0	0	2	0.000891266	.	.	2367107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.5	T	0.42	B	0.175	B	.	.	1.000	N	1.285	L	3.2	T	-0.946	T	0.014	T	0.024	-1.453	0.019	-2.38	-0.154	-5.959	3.308	0.019	0.000874464902175	7.8e-05	.	9.933e-05	0	0	0	0	0.0002	0	6.058e-05	9.06e-05	14	154602	rs368144666	4.378e-05	4.378e-05	4.22e-05	4.538e-05	0.0009	3.509e-05	3.193e-05	0.0003	0.0002	0	0	0	0	0	0.0009	4.227e-05	0.0001	4.638e-05	4.599e-05	4.594e-05	5.142e-05	4.032e-05	0.0004	2.109e-05	1.527e-05	7.307e-05	3.035e-05	0	0	0	0	0	0	0.0034	5.881e-05	0	0.0004	0.228	0.18434	T	0.803	0.04029	T	0.42	0.35330	B	0.175	0.35598	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	3.2	0.07236	T	-2.11	0.48020	N	0.072	0.04547	-0.9461	0.41632	T	0.014	0.05753	T	9	0.15268627	0.28836	T	8.74E-4	0.00777	T	0.019	0.03383	0.352	0.35084	0.0401082797425	0.02173	0.01583200748108693	0.01539	0.159749721989	0.18028	0.371885836124	0.21103	T	0.009745	0.08853	T	-0.582719	0.00185	T	-0.838144	0.01127	T	0.0469311089206507	0.04953	T	0.89491	0.63503	D	0.11957911	0.28155	0.07376008	0.16063	0.11957911	0.28154	0.07376008	0.16063	-6.493	0.50232	T	.	.	0.704	0.76236	P	.;.	.;.	0.674200	0.10428	7.148	0.79822677566616562	0.12916	0.00059	0.00440	N	AEFGBHCI	0.066663	0.13067	N	-1.14820824853762	0.05809	0.2657969	-1.3215682456839	0.04152	0.1952441	9.58611173263427E-5	0.04910	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	2.09	-2.38	0.06243	-1.219000	0.03083	.	.	0.565000	0.28586	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.2696:0.0:0.4374:0.293	3.308	0.06594	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1151.98	33	chr19	52155811	.	G	T	1151.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.106e+00;DP=1021;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.29;ReadPosRankSum=-1.430e-01;SOR=0.711	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1379	20	0	1	0
chr19	52157309	52157309	C	T	exonic	ZNF836	.	nonsynonymous SNV	ZNF836:NM_001102657:exon5:c.G374A:p.G125D,	.	.	458	1063	1	0	0	1	0.000470146	.	.	3358408	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.74	T	0.0	B	0.001	B	.	.	1.000	N	-0.935	N	3.4	T	-0.905	T	0.005	T	0.112	-1.345	0.029	-1.22	-0.173	-0.815	5.740	0.010	0.000750878151022	.	.	0.0001	0	0	0	0	0	0.0012	0.0009	0.0001035	16	154602	rs757305341	6.405e-05	6.567e-05	3.97e-05	8.87e-05	0.0010	5.33e-05	4.944e-05	0.0008	0.0008	0	0	0	0	0	0	3.611e-06	6.672e-05	0.0010	3.941e-05	3.938e-05	3.856e-05	4.03e-05	0.0008	1.715e-05	1.129e-05	0.0003	0.0002	0	0	6.545e-05	0	0	0	0	0	0.0005	0.0008	1.0	0.00964	T	0.792	0.04737	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.98	0.01198	N	3.4	0.05642	T	2.66	0.00198	N	0.117	0.10626	-0.9052	0.47424	T	0.005	0.01833	T	9	0.013304234	0.00283	T	7.51E-4	0.00529	T	0.010	0.01040	0.249	0.18602	0.0297737177859	0.01360	0.02076515007273998	0.02029	0.240595438909	0.26601	0.238093167543	0.02621	T	0.002216	0.01614	T	-0.691425	0.00041	T	-0.822309	0.01406	T	0.0180319056715601	0.00527	T	0.0768923	0.00566	T	0.03334872	0.03535	0.06520972	0.13185	0.03334872	0.03535	0.06520972	0.13184	-2.507	0.05829	T	.	.	0.071	0.06479	B	.;.	.;.	-0.425290	0.02119	0.201	0.10298443916016528	0.00126	0.00208	0.01187	N	AEFBI	0.026613	0.02029	N	-1.61869586045018	0.01174	0.05103155	-1.62286297079353	0.01522	0.06892931	3.2179968883664E-4	0.06540	0.562547	0.31514	0	0.588066	0.40923	0	0.608884	0.39905	0	0.567892	0.33627	0	.	.	2.34	-1.22	0.09005	-1.318000	0.02813	.	.	-0.353000	0.05553	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:0.5472:0.0:0.4528	5.740	0.17360	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2000.98	33	chr19	52157309	.	C	T	2000.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.89;DP=1282;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=0.029;SOR=0.684	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1379	20	0	1	0
chr19	52157386	52157386	C	G	exonic	ZNF836	.	nonsynonymous SNV	ZNF836:NM_001102657:exon5:c.G297C:p.E99D,	.	.	485	1021	15	1	0	17	0.00825644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.001	B	0.002	B	.	.	1.000	N	1.525	L	3.07	T	-0.950	T	0.017	T	0.072	-0.379	2.216	-0.327	-0.154	-1.469	4.669	0.002	.	0.0009	0.00359425	0.0031	0	0.0008	0	0	0.0016	0.0011	0.0154	0.0026455	409	154602	rs145570001	0.0022	0.0022	0.0017	0.0026	0.0151	0.0021	0.0021	0.0144	0.0141	3.016e-05	0.0008	0.0024	2.521e-05	9.376e-05	0.0136	0.0014	0.0032	0.0151	0.0016	0.0016	0.0013	0.0018	0.0141	0.0014	0.0013	0.0114	0.0104	0.0003	0	0.0018	0.0032	0	9.443e-05	0.0068	0.0016	0.0038	0.0141	0.135	0.26192	T	0.261	0.23845	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.355	0.33814	L	3.07	0.08547	T	-1.83	0.42957	N	0.051	0.02272	-0.9502	0.40938	T	0.017	0.07187	T	9	0.00558424	0.00123	T	.	.	.	0.002	0.00045	0.309	0.28128	0.112648838833	0.10856	0.02930728143722668	0.02879	0.117695942105	0.13256	0.238464802504	0.02653	T	0.017918	0.14537	T	-0.715691	0.00029	T	-0.78914	0.02188	T	0.00959972323754589	0.00125	T	0.207779	0.02478	T	0.06644925	0.14300	0.0691237	0.14524	0.06644925	0.14300	0.0691237	0.14524	-5.793	0.44513	T	.	.	0.153	0.33755	B	.;.;.	.;.;.	-0.639556	0.01467	0.090	0.75706972620945068	0.11179	0.00895	0.03516	N	AEFBI	0.037892	0.05280	N	-1.33780589538427	0.03253	0.1449924	-1.44252599195401	0.02838	0.1313133	2.84645603986532E-4	0.06355	0.554377	0.28877	0	0.588066	0.40923	0	0.670488	0.60580	0	0.567892	0.33627	0	.	.	2.06	-0.327	0.12064	-1.085000	0.03500	.	.	-0.458000	0.05121	0.000000	0.06391	0.000000	0.08366	0.081000	0.17303	0.0:0.6552:0.0:0.3448	4.669	0.12065	988	0.01987	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2016.98	33	chr19	52157386	.	C	G	2016.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.135;DP=1249;ExcessHet=0.0000;FS=6.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.40;ReadPosRankSum=-6.130e-01;SOR=1.071	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1379	20	0	1	0
chr19	52157391	52157391	G	C	exonic	ZNF836	.	nonsynonymous SNV	ZNF836:NM_001102657:exon5:c.C292G:p.L98V,	.	.	482	1024	15	1	0	17	0.00823245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.0	B	0.001	B	.	.	1.000	N	0.345	N	3.48	T	-0.903	T	0.009	T	0.08	-1.704	0.011	-0.867	-0.318	0.197	4.379	0.007	.	0.0003	0.00359425	0.0031	0	0.0008	0	0	0.0016	0.0011	0.0155	0.0025938	401	154602	rs191015765	0.0022	0.0022	0.0017	0.0026	0.0151	0.0021	0.0021	0.0144	0.0141	3.016e-05	0.0008	0.0024	2.521e-05	9.377e-05	0.0138	0.0014	0.0032	0.0151	0.0016	0.0016	0.0013	0.0019	0.0145	0.0014	0.0013	0.0118	0.0108	0.0003	0	0.0018	0.0032	0	9.468e-05	0.0068	0.0016	0.0038	0.0145	0.291	0.14945	T	0.562	0.10209	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.83	0.20963	L	3.48	0.05130	T	-1.15	0.29525	N	0.034	0.00942	-0.9029	0.47684	T	0.009	0.03054	T	9	0.0035451353	0.00064	T	.	.	.	0.007	0.00512	.	.	0.0806252709748	0.07271	0.01147061069828151	0.01107	0.13144590678	0.14824	0.217547774315	0.01173	T	0.008022	0.07382	T	-0.729608	0.00024	T	-0.809132	0.01685	T	0.0176793464924465	0.00499	T	0.070293	0.03672	T	0.04412993	0.07000	0.04817994	0.07102	0.04412993	0.07000	0.04817994	0.07101	-5.939	0.45766	T	.	.	0.088	0.14108	B	.;.;.	.;.;.	-0.495976	0.01879	0.154	0.11149848818259607	0.00160	0.01196	0.04270	N	AEFBI	0.039991	0.05887	N	-1.4666173288868	0.02089	0.09190551	-1.53585476662311	0.02075	0.09488594	3.16373359707655E-4	0.06498	0.554377	0.28877	0	0.588066	0.40923	0	0.670488	0.60580	0	0.567892	0.33627	0	.	.	1.5	-0.867	0.10115	-0.145000	0.10248	.	.	-2.020000	0.00436	0.000000	0.06391	0.000000	0.08366	0.038000	0.14061	0.5069:0.0:0.4931:0.0	4.379	0.10716	988	0.01987	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2102.98	33	chr19	52157391	.	G	C	2102.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.432;DP=1253;ExcessHet=0.0000;FS=3.129;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.69;ReadPosRankSum=-1.167e+00;SOR=0.884	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1379	20	0	1	0
chr19	52157392	52157392	G	T	exonic	ZNF836	.	nonsynonymous SNV	ZNF836:NM_001102657:exon5:c.C291A:p.D97E,	.	.	482	1024	15	1	0	17	0.00823245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.002	B	.	.	1.000	N	0.805	L	3.51	T	-0.913	T	0.009	T	0.056	-0.332	2.426	-3.0	-0.707	-1.848	4.549	0.014	.	0.0003	0.00359425	0.0031	0	0.0008	0	0	0.0016	0.0011	0.0155	0.0025938	401	154602	rs182900557	0.0022	0.0023	0.0018	0.0026	0.0150	0.0021	0.0021	0.0144	0.0141	6.027e-05	0.0008	0.0024	2.521e-05	9.375e-05	0.0138	0.0014	0.0032	0.0150	0.0016	0.0016	0.0013	0.0019	0.0145	0.0014	0.0014	0.0118	0.0108	0.0003	0	0.0018	0.0032	0	9.464e-05	0.0068	0.0016	0.0038	0.0145	0.353	0.12187	T	0.654	0.07059	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.26	0.31868	L	3.51	0.04959	T	-1.38	0.34198	N	0.021	0.00339	-0.9135	0.46415	T	0.009	0.03227	T	9	0.0051076114	0.00111	T	.	.	.	0.014	0.01968	0.228	0.15406	0.0666544352282	0.05500	0.019157505738458917	0.01869	0.122661492736	0.13820	0.245775401592	0.03336	T	0.005387	0.04841	T	-0.723785	0.00026	T	-0.800767	0.01883	T	0.0150574985605367	0.00325	T	0.0336966	0.00299	T	0.073930345	0.16556	0.056898292	0.10247	0.073930345	0.16555	0.056898292	0.10247	-3.579	0.17553	T	.	.	0.165	0.40424	B	.;.;.	.;.;.	-0.273973	0.02733	0.362	0.48874064811319756	0.04115	0.00838	0.03362	N	AEFBI	0.028443	0.02507	N	-1.46487105152616	0.02103	0.09249269	-1.57855975867208	0.01787	0.08132193	6.75590802955172E-4	0.07599	0.554377	0.28877	0	0.588066	0.40923	0	0.670488	0.60580	0	0.567892	0.33627	0	.	.	1.5	-3.0	0.05148	-1.214000	0.03097	.	.	0.499000	0.22661	0.000000	0.06391	0.000000	0.08366	0.054000	0.15518	0.0:0.4565:0.3123:0.2312	4.549	0.11504	988	0.01987	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2105.98	33	chr19	52157392	.	G	T	2105.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.43;DP=1253;ExcessHet=0.0000;FS=2.231;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.83;ReadPosRankSum=-1.212e+00;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1379	20	0	1	0
chr19	52322814	52322814	C	T	exonic	ZNF480	.	nonsynonymous SNV	ZNF480:NM_001297624:exon4:c.C1435T:p.R479C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.999	D	0.789	P	.	.	1.000	N	1.555	L	2.14	T	-1.061	T	0.068	T	0.21	1.654	11.49	1.18	0.261	-5.595	6.046	0.055	0.00373538716359	.	.	.	.	.	.	.	.	.	.	.	.	.	rs997457483	3.299e-05	3.283e-05	3.279e-05	3.319e-05	7.576e-05	2.555e-05	2.259e-05	2.839e-05	2.517e-05	2.997e-05	4.507e-05	0	7.576e-05	0	0	3.792e-05	0	0	6.573e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.106	0.29688	T	0.072	0.48594	T	0.999	0.77913	D	0.789	0.57669	P	.	.	.	.	1	0.08975	N	2.25	0.63811	M	2.14	0.19450	T	-2.3	0.51157	N	0.064	0.07949	-1.0614	0.11410	T	0.068	0.27879	T	9	0.15304208	0.28897	T	0.003735	0.08651	T	0.055	0.15663	0.62	0.75461	0.203808441222	0.19973	0.1312030350919284	0.13045	0.375685216108	0.39028	0.229436218739	0.01927	T	0.03811	0.24721	T	-0.28755	0.09883	T	-0.650822	0.08897	T	0.214945079449722	0.21208	T	0.288571	0.05217	T	0.08718202	0.20291	0.05358357	0.09054	0.08718202	0.20290	0.05358357	0.09054	-5.534	0.42856	T	.	.	0.538	0.66286	A	.;.;.	.;.;.	1.904491	0.24190	16.30	0.99211356394692396	0.55594	0.00019	0.00214	N	AEFGBCI	0.029688	0.02848	N	-0.93873745593251	0.09947	0.4730843	-1.14324779735726	0.06889	0.3332095	0.00133316644986829	0.08454	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.636168	0.56350	0	.	.	2.25	1.18	0.20058	-2.225000	0.01295	.	.	-0.506000	0.05009	0.000000	0.06391	0.001000	0.17328	0.002000	0.04165	0.0:0.7119:0.0:0.2881	6.046	0.18986	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1716.98	45	chr19	52322814	.	C	T	1716.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.27;DP=919;ExcessHet=0.0000;FS=0.639;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=0.444;SOR=0.589	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	20	0	1	0
chr19	52366275	52366275	G	T	exonic	ZNF610	.	nonsynonymous SNV	ZNF610:NM_001161427:exon5:c.G768T:p.E256D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.004	B	0.009	B	.	.	1.000	N	-0.165	N	3.19	T	-0.940	T	0.010	T	0.158	0.903	8.671	-1.73	-0.626	-2.819	3.686	0.012	0.000839819610407	.	.	3.298e-05	0	0	0	0	1.5e-05	0	0.0002	2.59e-05	4	154602	rs764199008	6.16e-06	6.158e-06	4.086e-06	8.256e-06	0.0001	2.9e-06	2.1e-06	5.4e-05	4.045e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	0.13699	T	0.314	0.23501	T	0.004	0.12183	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	-0.395	0.03011	N	3.19	0.07353	T	-1.43	0.35194	N	0.078	0.09207	-0.9397	0.42664	T	0.010	0.03492	T	9	0.04455164	0.03424	T	8.4E-4	0.00713	T	0.012	0.01476	0.413	0.45052	0.152612264143	0.14878	0.03872964355357358	0.03818	0.153038685903	0.17271	0.314237058163	0.12548	T	0.018505	0.14904	T	-0.519721	0.00442	T	-0.72464	0.04574	T	0.0323744715172096	0.02367	T	0.0330967	0.00215	T	0.06533104	0.13951	0.05812045	0.10685	0.06533104	0.13951	0.05812045	0.10684	-5.155	0.40318	T	.	.	0.52	0.66155	A	.;.;.;.;.;.	.;.;.;.;.;.	0.098886	0.05008	1.563	0.98218028497201193	0.39272	0.04584	0.10234	N	AEFBHCI	0.040683	0.06085	N	-1.40194746959504	0.02622	0.1160284	-1.47975363708956	0.02510	0.1155865	8.00979823044355E-4	0.07826	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	1.41	-1.73	0.07646	-2.917000	0.00762	.	.	-0.434000	0.05191	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.2725:0.2102:0.5173:0.0	3.686	0.07863	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1604.98	56	chr19	52366275	.	G	T	1604.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.970e-01;DP=1441;ExcessHet=0.0000;FS=0.724;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=0.312;SOR=0.576	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:57,0:57:99:.:.:0,120,1800	20	0	1	0
chr19	52384348	52384350	ACG	-	exonic	ZNF880	.	nonframeshift deletion	ZNF880:NM_001145434:exon4:c.768_770del:p.R257del,	.	.	311	1209	1	1	0	3	0.00123916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0038	.	0.0074	0.0013	0.0034	0.0719	0.0002	0.0019	0.0023	0.0054	0.0008068	21	26028	rs148392772	0.0038	0.0038	0.0038	0.0038	0.0578	0.0037	0.0037	0.0558	0.0550	0.0008	0.0032	0.0007	0.0578	0.0001	0.0007	0.0020	0.0072	0.0044	0.0042	0.0043	0.0039	0.0046	0.0638	0.0040	0.0039	0.0582	0.0559	0.0012	0.0230	0.0039	0.0009	0.0638	0	0	0.0021	0.0066	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1410.94	73	chr19	52384347	.	CACG	C	1410.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.900e-01;DP=1321;ExcessHet=0.0000;FS=0.957;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.71;ReadPosRankSum=-7.900e-02;SOR=0.497	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	20	0	1	0
chr19	52384817	52384817	-	TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG	exonic	ZNF880	.	frameshift insertion	ZNF880:NM_001145434:exon4:c.1237_1238insTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG:p.C413Ffs*26,	.	.	356	750	399	11	6	427	0.219157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0005	9.004e-05	0.0002	0	0.0002	0.0011	0.0001	.	.	.	.	0.0011	0.0034	0.0011	0.0011	0.0017	0.0011	0.0010	0.0015	0.0014	0.0015	0.0014	0.0027	0.0017	0.0016	0.0012	0.0009	0.0017	0.0017	0.0051	0.0069	0.0056	0.0045	0.0071	0.0048	0.0046	0.0051	0.0050	0.0046	0.0045	0.0056	0.0051	0.0026	0.0033	0.0106	0.0056	0.0030	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	8259.44	38	chr19	52384817	.	T	TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG,TTTGGGAGGCCGAGGCGG	8259.44	.	AC=1,11;AF=0.024,0.262;AN=42;BaseQRankSum=2.83;DP=1581;ExcessHet=9.6308;FS=104.319;InbreedingCoeff=-0.4000;MLEAC=1,11;MLEAF=0.024,0.262;MQ=58.44;MQRankSum=-8.940e-01;QD=11.25;ReadPosRankSum=-1.179e+00;SOR=7.257	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:72,0,10:82:99:0|1:52384817_T_TTTGGGAGGCCGAGGCGG:196,415,3401,0,2986,2956:52384817	9	0	1	0
chr19	52384821	52384821	-	ATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC	exonic	ZNF880	.	stopgain	ZNF880:NM_001145434:exon4:c.1241_1242insATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC:p.K415Sfs*2,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs779596445	0.0025	0.0048	0.0023	0.0026	0.0055	0.0024	0.0024	0.0049	0.0047	0.0026	0.0023	0.0064	0.0055	0.0054	0.0049	0.0021	0.0039	0.0011	0.0043	0.0060	0.0044	0.0042	0.0054	0.0040	0.0039	0.0044	0.0042	0.0032	0.0046	0.0037	0.0089	0.0041	0.0034	0.0118	0.0048	0.0042	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	3280.27	29	chr19	52384821	.	G	GATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAA,GAT,GATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC	3280.27	.	AC=3,3,2;AF=0.071,0.071,0.048;AN=42;BaseQRankSum=1.87;DP=1287;ExcessHet=3.5521;FS=78.611;InbreedingCoeff=-0.2353;MLEAC=3,3,2;MLEAF=0.071,0.071,0.048;MQ=58.72;MQRankSum=-1.592e+00;QD=8.99;ReadPosRankSum=-1.672e+00;SOR=8.320	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:73,0,4,0:77:52:0|1:52384817_T_TTTGGGAGGCCGAGGCGG:0,220,3266,52,3098,3086,220,3266,3098,3266:52384817	13	0	3	0
chr19	52384823	52384823	-	TGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG	exonic	ZNF880	.	stopgain	ZNF880:NM_001145434:exon4:c.1243_1244insTGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG:p.K415_R577delinsMRSGDRDHPG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0024	0.0009	0.0008	0.0016	0.0008	0.0008	0.0013	0.0012	0.0013	0.0007	0.0025	0.0016	0.0021	0.0013	0.0007	0.0016	0.0003	0.0032	0.0058	0.0032	0.0032	0.0034	0.0030	0.0029	0.0031	0.0029	0.0028	0.0057	0.0034	0.0042	0.0020	0.0031	0.0038	0.0034	0.0035	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	781.36	29	chr19	52384823	.	A	ATGAGGTCAGGAGATCGAGACCATCCTGGCTAAC,ATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG	781.36	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=0.162;DP=1374;ExcessHet=0.3300;FS=74.449;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=58.96;MQRankSum=-2.862e+00;QD=4.41;ReadPosRankSum=-2.141e+00;SOR=6.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:73,0,0:77:99:0|1:52384817_T_TTTGGGAGGCCGAGGCGG:0,220,3279,220,3279,3279:52384817	18	0	2	0
chr19	52406603	52406603	C	A	exonic	ZNF528	.	nonsynonymous SNV	ZNF528:NM_032423:exon6:c.C231A:p.N77K,	.	.	.	.	.	.	.	.	.	.	.	2326413	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.001	B	0.002	B	.	.	1.000	N	-0.88	N	5.72	T	-0.937	T	0.004	T	0.097	-2.138	0.005	-2.18	-0.589	-0.457	2.513	0.009	0.00114285529616	.	.	4.945e-05	0	0	0	0	8.997e-05	0	0	3.88e-05	6	154602	rs200968350	4.036e-05	4.036e-05	3.539e-05	4.538e-05	0.0005	3.179e-05	2.911e-05	0.0001	7.541e-05	0	0.0001	7.653e-05	0	0	0.0005	4.137e-05	4.968e-05	0	1.971e-05	1.969e-05	1.286e-05	2.688e-05	6.55e-05	5.24e-06	2.45e-06	.	.	0	0	6.55e-05	0	0	0	0	1.471e-05	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-1.28	0.00734	N	5.67	0.04446	T	0.59	0.04380	N	0.062	0.06720	-0.9373	0.43041	T	0.004	0.01261	T	9	0.046301037	0.03805	T	0.001143	0.01410	T	0.009	0.00846	0.407	0.44066	0.152612264143	0.14878	0.00933358025716195	0.00896	0.00923564524657	0.00836	0.256540745497	0.04487	T	0.001823	0.01836	T	-0.506791	0.00523	T	-0.7899	0.02167	T	0.0222366707608776	0.00935	T	7.62424E-4	0.00083	T	0.03966257	0.05518	0.031351514	0.01713	0.03966257	0.05517	0.031351514	0.01713	-1.953	0.03008	T	.	.	0.093	0.17402	B	.;.;.;.;.	.;.;.;.;.	-0.809601	0.01088	0.048	0.16818184820262233	0.00466	0.00068	0.00484	N	AEFBI	0.018697	0.00587	N	-1.77482123297114	0.00610	0.02627857	-1.80024631071581	0.00758	0.03380613	1.82324969915364E-5	0.02871	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	1.47	-2.18	0.06643	-1.005000	0.03785	.	.	-1.027000	0.01708	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4177:0.2948:0.2876:0.0	2.513	0.04378	988	0.01987	Krueppel-associated box;Krueppel-associated box;Krueppel-associated box;Krueppel-associated box;Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1200.98	36	chr19	52406603	.	C	A	1200.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=-1.393e+00;SOR=0.732	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1089	20	0	1	0
chr19	52415946	52415946	G	A	exonic	ZNF528	.	nonsynonymous SNV	ZNF528:NM_032423:exon7:c.G1094A:p.R365H,	.	.	400	1067	54	1	0	56	0.0255708	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.956	P	0.114	B	.	.	1.000	N	1.25	L	1.54	T	-1.012	T	0.023	T	0.242	-0.066	3.680	-0.657	0.193	-1.075	4.592	0.132	.	0.0062	0.00698882	0.0109	0.0007	0.0039	0	0.0210	0.0096	0.0233	0.0282	0.0098382	1521	154602	rs142156816	0.0085	0.0085	0.0077	0.0093	0.0260	0.0084	0.0083	0.0251	0.0247	0.0014	0.0039	0.0280	2.519e-05	0.0226	0.0258	0.0065	0.0106	0.0260	0.0074	0.0074	0.0064	0.0085	0.0237	0.0071	0.0069	0.0202	0.0188	0.0011	0	0.0042	0.0289	0.0002	0.0231	0.0342	0.0078	0.0081	0.0237	0.176	0.22312	T	0.546	0.09555	T	0.956	0.54666	P	0.114	0.31755	B	.	.	.	.	1	0.08975	N	1.115	0.28702	L	1.54	0.30133	T	0.51	0.02898	N	0.028	0.00618	-1.0120	0.26291	T	0.023	0.09968	T	9	0.004389435	0.00089	T	.	.	.	0.132	0.35948	.	.	.	.	0.015923970449232903	0.01548	0.00915006470918	0.00832	0.254826724529	0.04293	T	0.00476	0.04174	T	-0.595046	0.00156	T	-0.607922	0.12154	T	0.0049661892188208	0.00053	T	0.127587	0.00998	T	0.03501476	0.04041	0.037924096	0.03550	0.03501476	0.04041	0.037924096	0.03549	-4.929	0.36060	T	.	.	0.197	0.41947	B	.	.	1.344308	0.17510	13.21	0.30149128901172884	0.01635	0.04522	0.10151	N	AEFBCI	0.029627	0.02830	N	-0.797295779312745	0.13380	0.6587443	-0.993186387495532	0.09937	0.4973981	9.35688065139829E-6	0.01202	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	2.08	-0.657	0.10858	-0.925000	0.04100	.	.	-0.245000	0.07249	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1644:0.229:0.6066:0.0	4.592	0.11703	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1106.98	36	chr19	52415946	.	G	A	1106.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.00;DP=874;ExcessHet=0.0000;FS=2.799;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=-1.454e+00;SOR=0.430	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr19	52416705	52416705	C	G	exonic	ZNF528	.	nonsynonymous SNV	ZNF528:NM_032423:exon7:c.C1853G:p.S618C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.99	D	.	.	1.000	N	2.665	M	1.4	T	-0.918	T	0.220	T	0.338	1.459	10.82	1.58	0.842	-0.188	10.080	0.088	0.00386301460251	.	.	8.287e-06	0	0	0	0	0	0	6.209e-05	6.5e-06	1	154602	rs773475109	6.176e-06	6.156e-06	4.091e-06	8.287e-06	1.161e-05	2.91e-06	2.11e-06	3.11e-06	2.24e-06	0	0	0	0	0	0	7.219e-06	0	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.998	0.73220	D	0.99	0.78936	D	.	.	.	.	1	0.08975	N	2.785	0.81254	M	1.4	0.33630	T	-3.67	0.70191	D	0.172	0.18376	-0.9178	0.45851	T	0.220	0.58240	T	9	0.35370988	0.52171	T	0.003863	0.09055	T	0.088	0.25558	0.642	0.77903	0.619887034416	0.61680	0.00565427658235865	0.00535	0.0517145277918	0.05692	0.301737159491	0.10659	T	0.046961	0.27581	T	-0.220575	0.17915	T	-0.453987	0.27258	T	0.980847477912903	0.73580	D	0.437256	0.12012	T	0.24328342	0.47265	0.22999895	0.48089	0.24328342	0.47265	0.22999895	0.48088	-8.013	0.61159	D	.	.	0.140	0.30555	B	.	.	2.048318	0.26042	16.98	0.97321061458470104	0.33375	0.04728	0.10425	N	AEFBCI	0.021318	0.00936	N	-0.188250964942026	0.33623	1.909623	-0.51872558936901	0.21645	1.171901	1.67814498032346E-4	0.05721	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	1.58	1.58	0.22557	-1.207000	0.03118	.	.	-0.512000	0.04996	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:1.0:0.0:0.0	10.080	0.41554	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	4020.98	36	chr19	52416705	.	C	G	4020.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.410e-01;DP=1179;ExcessHet=0.0000;FS=7.534;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.60;ReadPosRankSum=-7.350e-01;SOR=1.071	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr19	52439027	52439027	A	G	exonic	ZNF534	.	nonsynonymous SNV	ZNF534:NM_001351679:exon4:c.A1483G:p.S495G	.	.	392	1120	1	0	9	10	0.000446229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.264	B	0.181	B	.	.	1.000	N	0.825	L	1.27	T	-0.979	T	0.060	T	0.077	-0.265	2.729	-1.64	-0.076	-0.687	7.043	0.015	0.00147880750506	.	.	1.312e-05	0	0	0	0	0	0	7.78e-05	6.5e-06	1	154602	rs747323811	4.835e-06	5.473e-06	4.119e-06	5.561e-06	0.0002	2.01e-06	1.29e-06	3.91e-06	1.47e-06	0	2.369e-05	0	0	0	0.0002	2.716e-06	0	2.357e-05	6.572e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.016	0.64786	D	0.183	0.31602	B	0.122	0.35894	B	.	.	.	.	1	0.08975	N	0.72	0.18721	N	1.27	0.36146	T	-1.85	0.43334	N	0.102	0.08506	-0.9792	0.35186	T	0.060	0.25200	T	9	0.1157231	0.21810	T	0.001479	0.02267	T	0.015	0.02232	0.335	0.32329	0.0551355673512	0.04727	0.01079600903302743	0.01040	0.133712803413	0.15057	0.227567225695	0.01793	T	0.005815	0.05258	T	-0.374332	0.03381	T	-0.672535	0.07447	T	0.0795061491381743	0.09922	T	0.0457954	0.00326	T	0.17405069	0.38188	0.16592167	0.38359	0.17405069	0.38188	0.16592167	0.38358	-5.735	0.44004	T	.	.	0.105	0.27373	B	.;.	.;.	1.531888	0.19653	14.37	0.95803763963540278	0.27865	0.01958	0.05943	N	AEFGI	0.084817	0.17191	N	-1.02675335936494	0.08052	0.376169	-1.17069316548863	0.06404	0.3081529	7.27079556342692E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.69	-1.64	0.07874	-1.303000	0.02852	.	.	0.454000	0.21428	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3379:0.6621:0.0:0.0	7.043	0.24210	988	0.01987	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1689.98	128	chr19	52439027	.	A	G	1689.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.260e-01;DP=2654;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=-7.760e-01;SOR=0.668	GT:AD:DP:GQ:PL	0/0:137,0:137:99:0,120,1800	20	0	1	0
chr19	52501862	52501862	C	T	exonic	ZNF578	.	nonsynonymous SNV	ZNF578:NM_001099694:exon4:c.C17T:p.A6V	.	.	424	1092	6	0	0	6	0.00273973	.	.	2283493	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.648	P	0.094	B	.	.	1.000	N	0.205	N	.	.	-1.036	T	0.025	T	0.157	2.106	13.00	-1.91	-0.604	0.013	2.364	0.064	0.000939369018942	.	.	0.0002	0	0.0006	0	0	0.0003	0.0011	0.0002	0.0002393	37	154602	rs201224129	0.0003	0.0003	0.0003	0.0003	0.0139	0.0002	0.0002	0.0114	0.0105	0.0004	0.0009	0.0016	0	0	0.0139	0.0001	0.0006	0.0003	0.0004	0.0004	0.0002	0.0005	0.0016	0.0003	0.0003	0.0011	0.0010	7.222e-05	0	0.0016	0.0020	0	0	0.0102	0.0002	0.0009	0.0004	.	.	.	0.094	0.39645	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.805	0.20218	L	3.25	0.06762	T	.	.	.	0.285	0.32259	-1.0357	0.18637	T	0.025	0.10821	T	7	0.02363503	0.00624	T	9.39E-4	0.00934	T	.	.	.	.	0.0297737177859	0.01360	0.08546364580480721	0.08480	0.154239641841	0.17418	.	.	.	0.004922	0.04343	T	-0.601375	0.00143	T	-0.708097	0.05394	T	0.0384555868804455	0.03412	T	0.0740926	0.01031	T	0.030770805	0.02799	0.048062265	0.07059	0.030770805	0.02799	0.048062265	0.07058	-5.759	0.44215	T	.	.	0.124	0.45990	B	.;.	.;.	0.336375	0.07102	3.675	0.99187261925972348	0.54877	0.00149	0.00902	N	AEFDBI	0.017730	0.00485	N	-1.0354898780627	0.07875	0.3673225	-1.18472125178386	0.06164	0.2958721	2.56949805204253E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.61531	0.40942	0	0.620846	0.47308	0	.	.	1.01	-1.91	0.07225	-0.828000	0.04526	.	.	-2.073000	0.00407	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3854:0.3499:0.2646:0.0	2.364	0.04051	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1529.98	33	chr19	52501862	.	C	T	1529.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.181e+00;DP=1047;ExcessHet=0.0000;FS=2.172;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=-3.700e-01;SOR=0.513	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1160	20	0	1	0
chr19	52504682	52504682	A	G	exonic	ZNF578	.	nonsynonymous SNV	ZNF578:NM_001099694:exon5:c.A91G:p.I31V	.	.	162	1325	35	0	0	35	0.0130354	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	B	0.063	B	.	.	1.000	N	0.42	N	.	.	-1.006	T	0.044	T	0.067	-0.460	1.871	0.267	0.611	0.127	3.183	0.033	.	0.0004	0.00379393	0.0025	0.0002	0.0015	0	0	0.0008	0.0011	0.0137	0.0021863	338	154602	rs202138665	0.0013	0.0013	0.0009	0.0017	0.0144	0.0013	0.0012	0.0132	0.0129	0.0001	0.0011	0.0009	7.558e-05	0	0.0144	0.0004	0.0019	0.0139	0.0009	0.0009	0.0008	0.0010	0.0122	0.0008	0.0007	0.0097	0.0088	0.0002	0	0.0010	0.0014	0.0002	0	0.0034	0.0006	0.0009	0.0122	.	.	.	0.162	0.49663	T	.	.	.	.	.	.	.	.	.	.	0.999986	0.18198	N	-0.1	0.04694	N	5.65	0.00784	T	.	.	.	0.083	0.05929	-1.0062	0.28095	T	0.044	0.18948	T	7	0.0053405464	0.00117	T	.	.	.	.	.	.	.	0.222439326576	0.21863	0.027324045908993348	0.02682	0.129134376674	0.14561	.	.	.	0.003148	0.02556	T	-0.705766	0.00034	T	-0.775529	0.02591	T	0.00754381448549917	0.00087	T	0.577942	0.20808	T	0.05493229	0.10608	0.076503254	0.16951	0.05493229	0.10608	0.076503254	0.16951	-5.524	0.42092	T	.	.	0.081	0.11076	B	.;.	.;.	0.330954	0.07050	3.614	0.87258492736045823	0.17100	0.00182	0.01064	N	AEFBI	0.024155	0.01452	N	-1.00959859911021	0.08404	0.3939219	-1.05945329237375	0.08511	0.4188155	9.19863649731994E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.577349	0.28860	0	0.620846	0.47308	0	.	.	1.35	0.267	0.14876	0.021000	0.13381	.	.	0.492000	0.22399	0.002000	0.15269	0.000000	0.08366	0.005000	0.06747	0.5123:0.0:0.4877:0.0	3.183	0.06198	988	0.01987	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	4506.98	34	chr19	52504682	.	A	G	4506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=1014;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.35;MQRankSum=-1.552e+00;QD=14.04;ReadPosRankSum=-4.090e-01;SOR=0.701	GT:AD:DP:GQ:PL	0/1:147,174:321:99:4521,0,3566	20	0	1	0
chr19	52511711	52511711	C	T	exonic	ZNF578	.	nonsynonymous SNV	ZNF578:NM_001099694:exon6:c.C1330T:p.R444C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	B	0.001	B	.	.	1.000	N	2.1	M	.	.	-1.021	T	0.082	T	0.267	-1.091	0.151	-2.97	-2.699	-8.771	1.324	0.052	0.00174644803208	.	.	3.305e-05	0	0.0002	0	0	0	0	0.0001	3.23e-05	5	154602	rs758250588	3.285e-05	3.42e-05	1.77e-05	4.814e-05	0.0003	2.544e-05	2.25e-05	0.0002	0.0002	0	0	0	0	0	0	1.619e-05	4.969e-05	0.0003	2.662e-05	0.0001	1.3e-05	4.093e-05	0.0004	8.22e-06	5.19e-06	7.462e-05	3.093e-05	0	0	0	0	0	0	0	1.48e-05	0.0005	0.0004	.	.	.	0.144	0.33109	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.875	0.49914	L	1.72	0.26588	T	.	.	.	0.092	0.07125	-1.0206	0.23519	T	0.082	0.32207	T	7	0.041138887	0.02743	T	0.001746	0.02934	T	.	.	.	.	0.0297737177859	0.01360	0.021640023892193952	0.02116	0.021238003613	0.02100	.	.	.	0.015776	0.13166	T	-0.492691	0.00628	T	-0.640946	0.09600	T	0.0525230057537556	0.05937	T	0.160284	0.01445	T	0.04737168	0.08085	0.031216212	0.01680	0.04737168	0.08084	0.031216212	0.01680	-3.669	0.18861	T	.	.	0.334	0.55514	B	.	.	0.020698	0.04427	1.160	0.44684306736629292	0.03453	0.00208	0.01187	N	AEFBI	0.037655	0.05210	N	-1.74276762719818	0.00701	0.03026131	-1.94139094120837	0.00405	0.01788807	0.0765639579589399	0.15732	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	1.48	-2.97	0.05195	-7.284000	0.00050	.	.	-0.585000	0.04679	0.000000	0.06391	.	.	0.000000	0.00833	0.3123:0.3732:0.1237:0.1907	1.324	0.01994	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2292.98	77	chr19	52511711	.	C	T	2292.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.50;DP=2388;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.51;ReadPosRankSum=-7.500e-02;SOR=0.687	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr19	52553212	52553212	G	A	exonic	ZNF808	.	nonsynonymous SNV	ZNF808:NM_001363550:exon3:c.G89A:p.G30E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.275	B	0.132	B	.	.	1.000	P	2.2	M	5.5	T	-0.966	T	0.000	T	0.325	-1.486	0.018	-0.807	-0.085	0.507	4.306	0.067	.	0.0002	0.0213658	0.0082	0.0002	0.0002	0.1117	0	0.0002	0.0033	0.0009	0.0077231	1194	154602	rs117753855	0.0038	0.0038	0.0039	0.0037	0.1245	0.0037	0.0037	0.1216	0.1205	0.0003	0.0002	0.0010	0.1245	0	0.0010	7.914e-05	0.0061	0.0011	0.0043	0.0043	0.0038	0.0048	0.1114	0.0040	0.0039	0.1038	0.1009	0.0004	0	0.0007	0.0020	0.1114	0	0	0.0002	0.0052	0.0029	0.745	0.03642	T	0.369	0.66756	T	0.275	0.31898	B	0.132	0.33005	B	.	.	.	.	1	0.08975	P	3.095	0.87515	M	3.54	0.04799	T	-2.7	0.95216	D	0.091	0.06990	-0.9662	0.37974	T	0.000	0.00114	T	8	0.003499508	0.00062	T	.	.	.	0.067	0.19503	.	.	0.231873229951	0.22792	0.07594401887204597	0.07530	0.433995334718	0.43532	0.198149561882	0.00405	T	0.043088	0.26389	T	-0.645558	0.00077	T	-0.581944	0.14373	T	0.0426907867601745	0.04181	T	0.652935	0.50622	T	0.07684409	0.17404	0.118673846	0.28645	0.07684409	0.17403	0.118673846	0.28644	-2.866	0.08808	T	.	.	0.098	0.35288	B	.;.;.;.	.;.;.;.	-0.399900	0.02214	0.222	0.3061700874389196	0.01684	0.00128	0.00795	N	AEFBI	0.018236	0.00538	N	-1.06305331791851	0.07334	0.3403469	-1.23302865254312	0.05387	0.256558	9.45595541794732E-6	0.01202	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.57	-0.807	0.10323	-1.161000	0.03255	.	.	-0.235000	0.07621	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4391:0.0:0.5609:0.0	4.306	0.10388	988	0.01987	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	5028.98	33	chr19	52553212	.	G	A	5028.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.685e+00;DP=1100;ExcessHet=0.0000;FS=3.214;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.92;MQRankSum=-5.330e-01;QD=12.45;ReadPosRankSum=-8.770e-01;SOR=0.852	GT:AD:DP:GQ:PL	0/1:197,207:404:99:5043,0,5130	20	0	1	0
chr19	52582382	52582382	G	A	exonic	ZNF701	.	nonsynonymous SNV	ZNF701:NM_018260:exon4:c.G323A:p.G108D	.	.	432	1085	5	0	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.149	B	0.17	B	.	.	1.000	N	1.495	L	3.58	T	-0.945	T	0.015	T	0.139	0.010	4.064	0.691	-0.006	0.245	4.601	0.008	0.00186358377626	0.0006	0.000599042	0.0005	9.617e-05	0	0	0	0.0003	0.0022	0.0028	0.0004722	73	154602	rs141741740	0.0004	0.0004	0.0003	0.0004	0.0127	0.0003	0.0003	0.0103	0.0095	5.978e-05	0.0002	3.831e-05	2.519e-05	0	0.0127	0.0001	0.0005	0.0030	0.0002	0.0002	0.0002	0.0003	0.0023	0.0002	0.0001	0.0013	0.0010	4.814e-05	0	6.541e-05	0	0	0	0.0136	0.0002	0	0.0023	0.208	0.19927	T	0.209	0.26798	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.46	0.36832	L	3.55	0.27822	T	-3.55	0.68764	D	0.035	0.04188	-0.9449	0.41830	T	0.015	0.05897	T	9	0.0071050823	0.00162	T	0.001864	0.03245	T	0.008	0.00669	.	.	0.0806252709748	0.07271	0.02728508765249665	0.02678	0.0443447036957	0.04785	0.277648687363	0.07166	T	0.014621	0.12415	T	-0.623378	0.00105	T	-0.67158	0.07507	T	0.0493177457647272	0.05381	T	0.637136	0.28234	T	0.1031166	0.24371	0.13144012	0.31563	0.1031166	0.24371	0.13144012	0.31562	-3.085	0.11125	T	.	.	0.097	0.17189	B	.;.;.;.	.;.;.;.	-0.727515	0.01259	0.065	0.23641779686726222	0.01009	0.00138	0.00846	N	AEFBI	0.020209	0.00775	N	-0.993070690885302	0.08752	0.4115218	-1.12187947220785	0.07283	0.3536814	0.00259554375461855	0.09558	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.81	0.691	0.17208	-0.173000	0.09844	.	.	-1.211000	0.01351	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7905:0.0:0.2095:0.0	4.601	0.11746	988	0.01987	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	4431.98	128	chr19	52582382	.	G	A	4431.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.123e+00;DP=2117;ExcessHet=0.0000;FS=1.318;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=-1.154e+00;SOR=0.600	GT:AD:DP:GQ:PL	0/0:113,0:113:99:0,120,1800	20	0	1	0
chr19	52706548	52706548	T	C	exonic	ZNF611	.	nonsynonymous SNV	ZNF611:NM_001161500:exon5:c.A507G:p.I169M	.	.	424	1075	22	1	0	24	0.0110396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.382	B	0.091	B	.	.	1.000	N	0.57	N	3.13	T	-0.975	T	0.012	T	0.085	0.946	8.859	-2.67	-0.514	-4.246	0.085	0.100	.	0.0002	0.00359425	0.0026	9.634e-05	0.0002	0	0	0.0003	0.0044	0.0173	0.0022186	343	154602	rs144112352	0.0013	0.0013	0.0008	0.0019	0.0182	0.0013	0.0012	0.0175	0.0172	0	6.708e-05	0.0004	0	0	0.0040	0.0002	0.0011	0.0182	0.0007	0.0007	0.0004	0.0010	0.0182	0.0006	0.0006	0.0152	0.0140	7.218e-05	0	0	0.0003	0	0	0	0.0002	0.0009	0.0182	0.163	0.23450	T	0.167	0.30729	T	0.382	0.34403	B	0.091	0.29943	B	.	.	.	.	1	0.08975	N	0.135	0.08676	N	3.0	0.09167	T	-1.68	0.40082	N	0.099	0.12770	-0.9754	0.36037	T	0.012	0.04747	T	9	0.0049054027	0.00105	T	.	.	.	0.100	0.28662	.	.	0.236890367714	0.23314	0.009135773118130991	0.00876	0.0313130348955	0.03250	0.278263747692	0.07251	T	0.00501	0.04439	T	-0.691886	0.00041	T	-0.752343	0.03395	T	0.0189043657137932	0.00600	T	0.039696	0.00534	T	0.064182214	0.13591	0.07291574	0.15787	0.064182214	0.13590	0.07291574	0.15786	-5.676	0.47679	T	.	.	0.092	0.19720	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.483718	0.08529	5.294	0.96142836402236942	0.28841	0.00196	0.01131	N	AEFBI	0.034691	0.04341	N	-1.25834124146927	0.04191	0.1886737	-1.41213788856454	0.03130	0.1454012	3.01479565530475E-5	0.03498	0.562547	0.31514	0	0.653731	0.59785	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	1.99	-2.67	0.05703	0.617000	0.24053	.	.	0.515000	0.23462	0.001000	0.13787	0.000000	0.08366	0.017000	0.10941	0.2482:0.1854:0.251:0.3154	0.085	0.00032	923	0.18507	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	4971.98	37	chr19	52706548	.	T	C	4971.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=1436;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.75;MQRankSum=-2.558e+00;QD=13.22;ReadPosRankSum=-4.660e-01;SOR=0.686	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1135	20	0	1	0
chr19	52706750	52706750	C	G	exonic	ZNF611	.	nonsynonymous SNV	ZNF611:NM_001161500:exon5:c.G305C:p.C102S	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.151	B	0.061	B	.	.	1.000	N	1.795	L	3.17	T	-0.937	T	0.018	T	0.067	-1.223	0.062	-1.92	-0.752	-5.528	3.414	0.020	0.000672129425484	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1313690072	2.052e-06	2.052e-06	1.361e-06	2.75e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	3.827e-05	0	0	0.0002	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.479	0.08634	T	0.409	0.14588	T	0.151	0.28027	B	0.061	0.26820	B	.	.	.	.	1	0.08975	N	2.015	0.55033	M	3.17	0.07711	T	-6.48	0.94145	D	0.052	0.02559	-0.9372	0.43057	T	0.018	0.07423	T	9	0.097115666	0.17466	T	6.72E-4	0.00383	T	0.020	0.03691	0.429	0.47680	0.0482279557977	0.04254	0.04334192104223155	0.04279	0.153538059209	0.17321	0.24411007762	0.03173	T	0.041828	0.25984	T	-0.394416	0.02519	T	-0.804328	0.01796	T	0.07587677131407	0.09451	T	0.370463	0.18749	T	0.100582026	0.23752	0.24122103	0.49515	0.100582026	0.23752	0.24122103	0.49514	-6.338	0.59637	T	.	.	0.162	0.35849	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-0.795864	0.01115	0.051	0.26261784375490527	0.01250	0.00163	0.00971	N	AEFBI	0.029594	0.02822	N	-1.31750977567847	0.03475	0.1552798	-1.50561119890483	0.02300	0.1055898	2.72689462549855E-5	0.03498	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	0.958	-1.92	0.07203	-5.670000	0.00127	.	.	-0.383000	0.05380	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2847:0.275:0.4403:0.0	3.414	0.06941	923	0.18507	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	5268.98	37	chr19	52706750	.	C	G	5268.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.528e+00;DP=1236;ExcessHet=0.0000;FS=1.094;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.85;MQRankSum=-9.200e-01;QD=12.17;ReadPosRankSum=-4.250e-01;SOR=0.617	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1135	20	0	1	0
chr19	52714086	52714086	C	A	exonic	ZNF611	.	nonsynonymous SNV	ZNF611:NM_001161500:exon4:c.G119T:p.C40F	.	.	178	1314	28	2	0	32	0.0120301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.011	B	0.069	B	.	.	1.000	N	1.285	L	4.64	T	-0.928	T	0.007	T	0.098	-1.576	0.014	0.549	0.067	-1.003	11.551	0.075	0.00281738910045	0.0039	0.00119808	0.0035	0.0009	0.0066	0.0003	0.0009	0.0041	0.0066	0.0033	0.0037268	97	26028	rs149629821	0.0040	0.0040	0.0039	0.0041	0.0104	0.0039	0.0039	0.0083	0.0075	0.0014	0.0049	0.0042	0.0003	0.0006	0.0104	0.0043	0.0040	0.0032	0.0026	0.0026	0.0027	0.0025	0.0039	0.0024	0.0023	0.0035	0.0034	0.0010	0	0.0027	0.0052	0.0006	0.0007	0.0034	0.0039	0.0038	0.0023	0.113	0.28772	T	0.201	0.27503	T	0.011	0.15914	B	0.069	0.27757	B	.	.	.	.	1	0.08975	N	1.77	0.45869	L	4.64	0.01799	T	-7.15	0.94096	D	0.111	0.11483	-0.9276	0.44487	T	0.007	0.02321	T	9	0.021801442	0.00529	T	0.002817	0.05898	T	0.075	0.21907	.	.	0.0762999501168	0.06990	0.06691334628893894	0.06629	0.0205346747606	0.02017	0.345161855221	0.17207	T	0.011663	0.10375	T	-0.666698	0.00057	T	-0.728937	0.04375	T	0.0239546125926923	0.01139	T	0.0345715	0.00233	T	0.2832653	0.51360	0.30935505	0.56950	0.2832653	0.51360	0.30935505	0.56949	-7.58	0.58171	D	.	.	0.135	0.29311	B	.;.;.;.	.;.;.;.	0.066178	0.04756	1.380	0.51469931782380163	0.04569	0.00225	0.01265	N	AEFBI	0.028400	0.02493	N	-1.69704696893847	0.00852	0.03686995	-1.73446749451502	0.00993	0.04449944	9.26090197134346E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.636168	0.56350	0	.	.	3.03	0.549	0.16403	-1.479000	0.02432	.	.	-1.215000	0.01346	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.4493:0.5507:0.0:0.0	11.551	0.49974	900	0.24599	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3075.98	36	chr19	52714086	.	C	A	3075.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.960e-01;DP=983;ExcessHet=0.0000;FS=0.917;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.72;MQRankSum=-1.274e+01;QD=11.03;ReadPosRankSum=0.194;SOR=0.634	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1291	20	0	1	0
chr19	52800055	52800055	T	C	exonic	ZNF28	.	nonsynonymous SNV	ZNF28:NM_001369762:exon3:c.A1631G:p.H544R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	.	.	1.000	N	4.17	H	-2.18	D	0.603	D	0.941	D	0.357	2.309	13.68	0.811	0.016	4.461	6.870	0.273	0.00813881553372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	.	.	.	.	0.999923	0.19486	N	3.53	0.93071	H	-2.18	0.96143	D	-7.09	0.93950	D	0.221	0.27435	0.603	0.91936	D	0.941	0.98074	D	9	0.9182922	0.91187	D	0.008139	0.21572	T	0.273	0.58883	0.765	0.89293	0.990917243681	0.99081	0.12394536942493785	0.12320	0.243668225337	0.26869	0.646200835705	0.59446	T	0.330864	0.70100	T	0.173162	0.71413	D	0.0109586	0.71045	D	0.699068133840486	0.40674	D	0.680832	0.44372	T	0.36393952	0.58134	0.28106588	0.54086	0.36393952	0.58134	0.28106588	0.54085	-11.827	0.86960	D	.	.	0.967	0.90325	P	.;.;.	.;.;.	2.171644	0.27671	17.54	0.93264423068242686	0.22959	0.42800	0.26958	N	AEFBHCI	0.416181	0.48474	N	-0.00334178984298901	0.41704	2.499303	-0.332193402128196	0.27066	1.499255	1.47016948090621E-4	0.05573	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.94	0.811	0.17881	0.473000	0.21843	.	.	0.486000	0.22242	0.285000	0.25187	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.2376:0.7624	6.870	0.23297	976	0.04745	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4628.98	154	chr19	52800055	.	T	C	4628.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.467e+00;DP=3389;ExcessHet=0.0000;FS=4.727;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.51;MQRankSum=-1.719e+00;QD=12.82;ReadPosRankSum=-1.540e-01;SOR=0.922	GT:AD:DP:GQ:PL	0/1:173,188:361:99:4643,0,4485	20	0	1	0
chr19	52800865	52800865	T	C	exonic	ZNF28	.	nonsynonymous SNV	ZNF28:NM_001369762:exon3:c.A821G:p.Y274C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.521	P	0.028	B	.	.	1.000	N	2.795	M	2.43	T	-1.006	T	0.043	T	0.209	1.314	10.31	1.47	0.662	-1.157	4.328	0.072	0.00092516596351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.521	0.37531	P	0.028	0.21332	B	.	.	.	.	0.999996	0.08975	N	2.24	0.63355	M	2.43	0.15261	T	-6.37	0.93786	D	0.139	0.13769	-1.0059	0.28186	T	0.043	0.18493	T	9	0.6990278	0.72326	D	9.25E-4	0.00889	T	0.072	0.21020	0.84	0.94602	0.37568098594	0.37176	0.02280556293606497	0.02232	0.225795944007	0.25129	0.327523380518	0.14560	T	0.150993	0.49073	T	-0.260832	0.12804	T	-0.612444	0.11788	T	0.636123895645142	0.37873	D	0.447055	0.13557	T	0.20579676	0.42733	0.22764398	0.47780	0.20579676	0.42733	0.22764398	0.47779	-8.676	0.67316	D	.	.	0.123	0.36475	B	.;.;.	.;.;.	2.088309	0.26565	17.16	0.97704047733929666	0.35454	0.01904	0.05833	N	AEFBCI	0.067827	0.13353	N	-0.666863433316834	0.16971	0.8693336	-0.864313191923705	0.12944	0.668775	3.24511164211095E-4	0.06540	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.47	1.47	0.21832	-1.567000	0.02250	.	.	0.509000	0.23192	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.5093:0.0:0.0:0.4907	4.328	0.10490	976	0.04745	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2553.98	148	chr19	52800865	.	T	C	2553.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.02;DP=2269;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.58;ReadPosRankSum=-2.200e-01;SOR=0.653	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr19	52801003	52801003	C	T	exonic	ZNF28	.	nonsynonymous SNV	ZNF28:NM_001369762:exon3:c.G683A:p.G228D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.085	B	0.091	B	.	.	1.000	N	0.81	L	2.46	T	-0.975	T	0.025	T	0.055	0.299	5.619	-2.94	-0.572	-6.363	3.713	0.003	0.000537088295201	0.0005	0.000399361	0.0008	0	0	0	0	0.0009	0	0.0021	0.0006727	104	154602	rs145673349	0.0006	0.0006	0.0005	0.0006	0.0018	0.0005	0.0005	0.0015	0.0014	0.0001	0	3.826e-05	0	0.0003	0.0005	0.0005	0.0005	0.0018	0.0004	0.0004	0.0004	0.0005	0.0017	0.0004	0.0003	0.0008	0.0006	4.818e-05	0	0.0001	0	0.0002	0.0004	0	0.0007	0	0.0017	0.091	0.40319	T	0.197	0.34477	T	0.085	0.24868	B	0.091	0.29943	B	.	.	.	.	1	0.08975	N	0.72	0.18721	N	2.46	0.18083	T	-0.97	0.31576	N	0.084	0.06059	-0.9752	0.36082	T	0.025	0.10643	T	9	0.007866472	0.00179	T	5.37E-4	0.00196	T	0.003	0.00094	.	.	0.0884992946249	0.08302	0.01421655497026517	0.01378	0.0576419736178	0.06386	0.356519758701	0.18878	T	0.019422	0.15476	T	-0.71765	0.00029	T	-0.810895	0.01645	T	0.0107909258104284	0.00153	T	0.258474	0.08382	T	0.03966939	0.05521	0.06329317	0.12517	0.03966939	0.05521	0.06329317	0.12517	-5.564	0.42462	T	.	.	0.248	0.55243	B	.;.;.	.;.;.	-0.356190	0.02382	0.263	0.6872395974402109	0.08747	0.00572	0.02591	N	AEFBCI	0.020703	0.00845	N	-1.39250366065193	0.02708	0.119946	-1.54911949624795	0.01982	0.09053529	0.00295616972720036	0.09827	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.47	-2.94	0.05245	-2.964000	0.00736	.	.	-1.377000	0.01163	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.463:0.2073:0.3297	3.713	0.07958	976	0.04745	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2015.98	148	chr19	52801003	.	C	T	2015.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=2266;ExcessHet=0.0000;FS=4.612;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.52;ReadPosRankSum=1.11;SOR=0.636	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr19	52881252	52881252	T	C	exonic	ZNF320	.	nonsynonymous SNV	ZNF320:NM_001351773:exon4:c.A874G:p.K292E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.461	P	0.295	B	.	.	1.000	N	0.89	L	-0.36	T	-0.923	T	0.169	T	0.049	0.858	8.474	-1.48	-0.463	-1.342	5.219	0.036	0.00359727187706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.23095	T	0.087	0.40747	T	0.461	0.36363	P	0.295	0.40843	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	-0.36	0.68754	T	-1.9	0.44284	N	0.035	0.01004	-0.9230	0.45141	T	0.169	0.50939	T	9	0.09794438	0.17673	T	0.003597	0.08247	T	0.036	0.09122	0.497	0.58678	0.478905595755	0.47518	0.054910457566581646	0.05432	0.114385035191	0.12898	0.272336453199	0.06448	T	0.039494	0.25209	T	-0.25375	0.13642	T	-0.602271	0.12622	T	0.388565421104431	0.28510	T	0.651035	0.26183	T	0.11872674	0.27968	0.09191885	0.21635	0.11872674	0.27968	0.09191885	0.21635	-4.258	0.27584	T	.	.	0.283	0.51635	B	.;.;.	.;.;.	0.673545	0.10422	7.142	0.79090753745799569	0.12586	0.02547	0.07071	N	AEFBHCI	0.025808	0.01829	N	-1.0084883906883	0.08427	0.395077	-1.18930476526204	0.06088	0.2919705	3.61036144975406E-4	0.06668	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	1.74	-1.48	0.08286	-1.558000	0.02268	.	.	0.260000	0.18395	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.0:0.1878:0.4167:0.3955	5.219	0.14680	988	0.01987	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	903.98	36	chr19	52881252	.	T	C	903.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.060e-01;DP=916;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.29;ReadPosRankSum=1.40;SOR=0.757	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	20	0	1	0
chr19	53014512	53014512	A	G	exonic	ERVV-1	.	nonsynonymous SNV	ERVV-1:NM_152473:exon1:c.A422G:p.E141G,	.	.	444	1065	13	0	0	13	0.00606626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0099	0	0	0	.	0.0268	0	0.0023	4.53e-05	7	154602	rs777651938	0.0011	0.0010	0.0011	0.0011	0.0051	0.0011	0.0010	0.0036	0.0031	0.0002	0.0008	0.0133	0	0.0003	0.0051	0.0008	0.0019	0.0010	0.0009	0.0010	0.0008	0.0009	0.0010	0.0008	0.0007	0.0007	0.0006	8.763e-05	0	0.0010	0.0094	0.0003	0.0003	0.0040	0.0009	0.0021	0.0003	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.06538	N	2.08	0.20255	T	.	.	.	0.176	0.18920	.	.	.	.	.	.	.	0.0056152344	0.00124	T	.	.	.	.	.	.	.	0.215109475489	0.21095	0.09033149992206972	0.08966	.	.	0.412083983421	0.26745	T	0.001396	0.00857	T	-0.586905	0.00175	T	-0.651203	0.08870	T	.	.	.	0.466353	0.13696	T	0.09952577	0.23488	0.14127384	0.33649	0.09952577	0.23488	0.14127384	0.33648	-2.368	0.04940	T	.	.	0.087	0.10979	B	.	.	0.923347	0.12983	9.489	0.57340116745435288	0.05748	0.00339	0.01760	N	AEFDGI	0.033478	0.03981	N	.	.	.	.	.	.	4.87272065969077E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.235	0.235	0.14697	0.340000	0.19634	.	.	0.403000	0.20566	0.025000	0.20085	0.000000	0.08366	0.011000	0.09372	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	496.98	33	chr19	53014512	.	A	G	496.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.739e+00;DP=723;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=27.00;MQRankSum=0.00;QD=9.74;ReadPosRankSum=0.010;SOR=0.408	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr19	53015384	53015384	A	G	exonic	ERVV-1	.	nonsynonymous SNV	ERVV-1:NM_152473:exon1:c.A1294G:p.N432D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0053398772727	.	.	0.0003	0	0	0	0	0.0011	0	0	6.47e-05	10	154602	rs538575630	0.0005	0.0005	0.0005	0.0005	0.0008	0.0004	0.0004	0.0007	0.0007	0.0001	0.0003	0	9.345e-05	5.948e-05	0	0.0008	0.0003	1.593e-05	0.0004	0.0005	0.0004	0.0005	0.0009	0.0004	0.0003	0.0007	0.0007	2.414e-05	0	6.548e-05	0	0	0.0004	0	0.0009	0.0005	0	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	.	.	.	0.695	0.17993	N	2.27	0.17431	T	.	.	.	0.093	0.07262	.	.	.	.	.	.	.	0.012463838	0.00268	T	0.00534	0.13679	T	.	.	.	.	0.0611884634855	0.05136	0.09685635376112979	0.09617	.	.	0.430266618729	0.29244	T	0.001973	0.01384	T	-0.740875	0.00020	T	-0.887433	0.00595	T	.	.	.	0.256674	0.04023	T	0.10011152	0.23634	0.09367711	0.22137	0.10011152	0.23634	0.09367711	0.22137	-3.441	0.15614	T	.	.	0.103	0.18414	B	.	.	0.209562	0.05935	2.373	0.43790129973361935	0.03321	0.00005	0.00104	N	AEFDBI	0.011309	0.00097	N	.	.	.	.	.	.	1.06786251330966E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.235	0.235	0.14697	-0.207000	0.09388	.	.	-0.485000	0.05058	0.002000	0.15269	0.000000	0.08366	0.015000	0.10482	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	40.98	33	chr19	53015384	.	A	G	40.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.88;DP=818;ExcessHet=0.0000;FS=7.909;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.48;MQRankSum=-9.506e+00;QD=0.40;ReadPosRankSum=-1.588e+00;SOR=0.797	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr19	53015394	53015394	-	AGG	exonic	ERVV-1	.	nonframeshift insertion	ERVV-1:NM_152473:exon1:c.1304_1305insAGG:p.G436_D437insG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.504e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	437.94	33	chr19	53015394	.	A	AAGG	437.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=814;ExcessHet=0.0000;FS=1.086;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.42;MQRankSum=-7.872e+00;QD=4.21;ReadPosRankSum=-2.826e+00;SOR=0.482	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485	20	0	1	0
chr19	53015400	53015400	A	C	exonic	ERVV-1	.	nonsynonymous SNV	ERVV-1:NM_152473:exon1:c.A1310C:p.D437A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00441090245443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.515e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	0.686	0.05995	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	2.32	0.16640	T	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.051898956	0.05142	T	0.004411	0.10781	T	.	.	.	.	0.0611884634855	0.05136	0.12632603700778225	0.12558	.	.	0.384346932173	0.22871	T	1.06E-4	0.00011	T	-0.402529	0.02228	T	-0.815981	0.01535	T	.	.	.	0.338366	0.07261	T	0.07371221	0.16491	0.14017801	0.33422	0.07371221	0.16491	0.14017801	0.33421	-3.365	0.14589	T	.	.	0.117	0.23709	B	.	.	-0.441054	0.02063	0.189	0.11153381350603488	0.00160	0.00046	0.00367	N	AEFDBI	0.016257	0.00355	N	.	.	.	.	.	.	0.471100476487255	0.20708	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.235	-0.47	0.11525	-0.652000	0.05465	.	.	-0.520000	0.04980	0.003000	0.16062	0.000000	0.08366	0.019000	0.11356	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	557.98	33	chr19	53015400	.	A	C	557.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.914;DP=816;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.45;MQRankSum=-7.324e+00;QD=5.12;ReadPosRankSum=-1.784e+00;SOR=0.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485	20	0	1	0
chr19	53015408	53015408	G	A	exonic	ERVV-1	.	nonsynonymous SNV	ERVV-1:NM_152473:exon1:c.G1318A:p.G440R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010927778337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.63e-06	6.126e-06	7.914e-06	0	6.305e-06	6e-07	2.3e-07	1.05e-06	3.9e-07	0	0	0	0	0	0	6.305e-06	0	0	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	0.848	0.03527	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	.	.	.	-0.14	0.04484	N	2.24	0.17923	T	.	.	.	0.144	0.14480	.	.	.	.	.	.	.	0.07653469	0.11968	T	0.010928	0.28020	T	.	.	.	.	0.245660935333	0.24156	0.2119188138027519	0.21107	.	.	0.396701097488	0.24610	T	0.002221	0.01623	T	-0.422409	0.01651	T	-0.844538	0.01033	T	.	.	.	0.40156	0.10241	T	0.07125045	0.15760	0.15175174	0.35734	0.07125045	0.15759	0.15175174	0.35733	-5.192	0.38860	T	.	.	0.09	0.12607	B	.	.	-0.542775	0.01734	0.129	0.29021914708048896	0.01519	0.00280	0.01512	N	AEFDBI	0.037154	0.05064	N	.	.	.	.	.	.	1.08904686551139E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.235	-0.47	0.11525	-0.311000	0.08164	.	.	0.373000	0.20310	0.002000	0.15269	0.000000	0.08366	0.031000	0.13245	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	701.98	33	chr19	53015408	.	G	A	701.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.82;DP=814;ExcessHet=0.0000;FS=2.077;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.42;MQRankSum=-6.604e+00;QD=6.62;ReadPosRankSum=-1.771e+00;SOR=0.954	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485	20	0	1	0
chr19	53015411	53015411	T	G	exonic	ERVV-1	.	nonsynonymous SNV	ERVV-1:NM_152473:exon1:c.T1321G:p.S441A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00673458077458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.63e-06	7.655e-06	7.914e-06	0	6.305e-06	6e-07	2.3e-07	1.05e-06	3.9e-07	0	0	0	0	0	0	6.305e-06	0	0	6.573e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	0.96	0.02548	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-0.345	0.03330	N	2.26	0.17596	T	.	.	.	0.086	0.06322	.	.	.	.	.	.	.	0.05994618	0.07287	T	0.006735	0.17784	T	.	.	.	.	0.0401082797425	0.02173	0.10697506200614833	0.10627	.	.	0.416446626186	0.27348	T	0.003382	0.02788	T	-0.426719	0.01552	T	-0.850729	0.00950	T	.	.	.	0.167383	0.01560	T	0.09142711	0.21423	0.08770301	0.20401	0.09142711	0.21423	0.08770301	0.20400	-4.437	0.30055	T	.	.	0.090	0.12797	B	.	.	-0.561765	0.01679	0.120	0.18381245831312676	0.00575	0.00113	0.00716	N	AEFDBI	0.024102	0.01439	N	.	.	.	.	.	.	0.00121609650915999	0.08343	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.235	-0.47	0.11525	-0.318000	0.08091	.	.	0.366000	0.20181	0.004000	0.16614	0.000000	0.08366	0.032000	0.13371	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	707.98	33	chr19	53015411	.	T	G	707.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=812;ExcessHet=0.0000;FS=0.978;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.39;MQRankSum=-6.530e+00;QD=6.81;ReadPosRankSum=-1.626e+00;SOR=0.931	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485	20	0	1	0
chr19	53015436	53015443	CCCTCCCC	-	exonic	ERVV-1	.	frameshift deletion	ERVV-1:NM_152473:exon1:c.1346_1353del:p.A449Vfs*15,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	415.94	33	chr19	53015435	.	GCCCTCCCC	G	415.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.240e+00;DP=1110;ExcessHet=0.0000;FS=148.122;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.25;ReadPosRankSum=2.49;SOR=7.167	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485	20	0	1	0
chr19	53015443	53015443	-	GGGTGGGG	exonic	ERVV-1	.	frameshift insertion	ERVV-1:NM_152473:exon1:c.1353_1354insGGGTGGGG:p.S452Gfs*95,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	356.94	33	chr19	53015443	.	C	CGGGTGGGG	356.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.772e+00;DP=1060;ExcessHet=0.0000;FS=137.370;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.10;ReadPosRankSum=3.45;SOR=6.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485	20	0	1	0
chr19	53050615	53050615	A	C	exonic	ERVV-2	.	nonsynonymous SNV	ERVV-2:NM_001191055:exon2:c.A1364C:p.N455T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0174263652937	.	.	0.0002	0	0	0	0	0	0	0.0003	1.29e-05	2	154602	rs777337894	3.213e-05	2.629e-05	2.105e-05	4.294e-05	0.0003	2.312e-05	2.04e-05	0.0002	0.0002	0.0001	0	0	2.919e-05	0	0	7.672e-06	0	0.0003	4.596e-05	4.594e-05	5.14e-05	4.028e-05	7.217e-05	2.108e-05	1.526e-05	1.972e-05	1.125e-05	7.217e-05	0	0	0	0	0	0	5.881e-05	0	0	.	.	.	0.921	0.02864	T	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.835	0.01514	N	2.63	0.12884	T	.	.	.	0.079	0.05414	.	.	.	.	.	.	.	0.044282585	0.03367	T	0.017426	0.39125	T	.	.	.	.	0.0297737177859	0.01360	0.05947128647048469	0.05887	.	.	0.487333476543	0.37070	T	0.001125	0.00635	T	-0.605362	0.00135	T	-0.809778	0.01670	T	.	.	.	0.223478	0.02897	T	0.13467239	0.31281	0.17155139	0.39346	0.13467239	0.31280	0.17155139	0.39345	-0.96	0.00956	T	.	.	0.081	0.08465	B	.	.	0.466189	0.08360	5.110	0.42048905811981652	0.03073	0.00607	0.02700	N	AEFI	0.036820	0.04968	N	.	.	.	.	.	.	1.35785891028029E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.418	-0.692	0.10733	0.347000	0.19760	.	.	0.413000	0.20698	0.330000	0.25589	0.000000	0.08366	0.027000	0.12703	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	863.98	48	chr19	53050615	.	A	C	863.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.53;DP=1445;ExcessHet=0.0000;FS=15.406;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.36;MQRankSum=-7.983e+00;QD=3.66;ReadPosRankSum=-1.902e+00;SOR=1.720	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1530	20	0	1	0
chr19	53050616	53050616	C	A	exonic	ERVV-2	.	nonsynonymous SNV	ERVV-2:NM_001191055:exon2:c.C1365A:p.N455K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0130231266713	.	.	0.0002	0	0	0	0	0	0	0.0003	1.29e-05	2	154602	rs753373875	3.193e-05	2.768e-05	2.091e-05	4.27e-05	0.0003	2.298e-05	2.028e-05	0.0002	0.0002	0.0001	0	0	2.916e-05	0	0	7.615e-06	0	0.0003	4.596e-05	4.593e-05	5.138e-05	4.029e-05	7.215e-05	2.108e-05	1.526e-05	1.972e-05	1.124e-05	7.215e-05	0	0	0	0	0	0	5.88e-05	0	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.14	0.04484	N	2.61	0.13095	T	.	.	.	0.018	0.00252	.	.	.	.	.	.	.	0.043982923	0.03305	T	0.013023	0.32090	T	.	.	.	.	0.0297737177859	0.01360	0.05710995342002677	0.05651	.	.	0.477726191282	0.35744	T	0.001096	0.00611	T	-0.65627	0.00066	T	-0.882903	0.00630	T	.	.	.	0.239776	0.03423	T	0.08376331	0.19357	0.14909603	0.35218	0.08376331	0.19356	0.14909603	0.35217	-1.852	0.02669	T	.	.	0.080	0.07889	B	.	.	0.160499	0.05509	1.974	0.18693191156795788	0.00599	0.00085	0.00571	N	AEFI	0.020425	0.00806	N	.	.	.	.	.	.	9.09316817981347E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.418	-0.835	0.10230	-0.657000	0.05435	.	.	-0.500000	0.05022	0.330000	0.25589	0.001000	0.17328	0.024000	0.12247	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	863.98	48	chr19	53050616	.	C	A	863.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.600e-01;DP=1446;ExcessHet=0.0000;FS=15.406;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.36;MQRankSum=-7.983e+00;QD=3.66;ReadPosRankSum=-1.244e+00;SOR=1.720	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1530	20	0	1	0
chr19	53068417	53068417	C	T	exonic	ZNF160	.	nonsynonymous SNV	ZNF160:NM_001322136:exon5:c.G2117A:p.R706Q	.	.	389	1124	8	1	0	10	0.0044287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.92	P	0.24	B	.	.	1.000	N	0.015	N	2.34	T	-1.013	T	0.016	T	0.081	1.949	12.48	-1.62	-0.708	-2.003	4.335	0.054	0.0035749140982	.	0.00139776	0.0005	0	8.637e-05	0	0	0.0001	0	0.0035	0.0005239	81	154602	rs201073674	0.0003	0.0003	0.0002	0.0005	0.0040	0.0003	0.0003	0.0036	0.0035	0.0001	2.259e-05	0.0004	2.527e-05	0	0.0017	6.842e-05	0.0004	0.0040	0.0002	0.0002	0.0002	0.0002	0.0045	0.0001	0.0001	0.0030	0.0025	0	0	0	0.0003	0	0	0	0.0001	0	0.0045	0.055	0.38407	T	0.023	0.57104	D	0.92	0.51019	P	0.24	0.38599	B	.	.	.	.	1	0.08975	N	-0.665	0.02058	N	2.34	0.16351	T	-0.9	0.24244	N	0.053	0.05037	-1.0131	0.25943	T	0.016	0.06569	T	9	0.00477618	0.00101	T	0.003575	0.08154	T	0.054	0.15330	.	.	0.0611884634855	0.05136	0.05949815375872261	0.05889	0.85370292488	0.68666	0.188015937805	0.00192	T	0.011652	0.10368	T	-0.67794	0.00049	T	-0.747747	0.03575	T	0.060510937932735	0.07249	T	0.0288971	0.00180	T	0.043433998	0.06768	0.044326358	0.05718	0.043433998	0.06768	0.044326358	0.05718	-4.391	0.29435	T	.	.	0.104	0.18663	B	.;.;.;.	.;.;.;.	2.465692	0.31770	18.84	0.9651195513354982	0.30083	0.00008	0.00134	N	AEFDBHCI	0.014886	0.00256	N	-1.05160917809189	0.07556	0.3514047	-1.20855477284168	0.05771	0.2759463	3.70278043212291E-4	0.06707	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	2.47	-1.62	0.07926	-1.186000	0.03179	.	.	-0.314000	0.05961	0.000000	0.06391	0.000000	0.08366	0.950000	0.49671	0.0:0.3236:0.1704:0.5059	4.335	0.10520	994	0.00715	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1917.98	35	chr19	53068417	.	C	T	1917.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.796;DP=1060;ExcessHet=0.0000;FS=0.579;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-1.950e+00;SOR=0.784	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1376	20	0	1	0
chr19	53140705	53140705	G	A	exonic	ZNF347	.	nonsynonymous SNV	ZNF347:NM_001172674:exon5:c.C2126T:p.P709L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	1.0	D	.	.	0.917	D	2.025	M	2.3	T	-0.999	T	0.082	T	0.298	2.680	14.92	0.711	0.138	3.401	4.511	0.181	0.00535265129578	7.7e-05	.	8.268e-06	0	0	0	0	0	0	6.149e-05	1.29e-05	2	154602	rs138184868	2.189e-05	2.189e-05	2.042e-05	2.338e-05	2.518e-05	1.584e-05	1.356e-05	1.746e-05	1.503e-05	0	2.236e-05	0	0	0	0	2.518e-05	3.312e-05	1.16e-05	3.947e-05	3.939e-05	5.146e-05	2.692e-05	7.353e-05	1.717e-05	1.131e-05	2.847e-05	1.859e-05	0	0	0	0	0	0	0	7.353e-05	0.0005	0	0.022	0.48642	D	0.0	0.92824	D	0.994	0.66517	D	0.896	0.63555	P	.	.	.	.	0.916754	0.36561	D	2.085	0.57729	M	2.3	0.16953	T	-8.89	0.97928	D	0.207	0.22998	-0.9992	0.30143	T	0.082	0.32324	T	9	0.20598385	0.36844	T	0.005353	0.13710	T	0.181	0.45247	.	.	0.376393476264	0.37247	0.02920529315599142	0.02869	0.0894441029174	0.10108	0.342619419098	0.16830	T	0.261658	0.63316	T	-0.292887	0.09349	T	-0.502123	0.22128	T	0.488520496251002	0.32210	T	0.425957	0.11436	T	0.18451023	0.39769	0.17284301	0.39568	0.18451023	0.39769	0.17284301	0.39567	-7.57	0.58318	D	.	.	0.719	0.73763	P	.;.;.	.;.;.	2.432537	0.31299	18.70	0.98238329508226552	0.39458	0.57496	0.30392	D	AEFBHCI	0.183166	0.31050	N	-0.173524547874484	0.34241	1.951963	-0.398781912035798	0.25034	1.374308	4.56749578674965E-5	0.03989	0.651	0.46895	0	0.670034	0.63936	0	0.65145	0.50148	0	0.567892	0.33627	0	.	.	3.03	0.711	0.17319	1.297000	0.33005	.	.	0.347000	0.19874	0.035000	0.20724	0.000000	0.08366	0.802000	0.37819	0.219:0.1857:0.5954:0.0	4.511	0.11318	994	0.00715	Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2822.98	33	chr19	53140705	.	G	A	2822.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.871e+00;DP=1023;ExcessHet=0.0000;FS=3.290;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.78;ReadPosRankSum=-2.440e-01;SOR=0.501	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1302	20	0	1	0
chr19	53141845	53141845	C	T	exonic	ZNF347	.	nonsynonymous SNV	ZNF347:NM_001172674:exon5:c.G986A:p.R329Q	.	.	.	.	.	.	.	.	.	.	.	2315687	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.122	B	0.005	B	.	.	1.000	N	0.275	N	2.46	T	-0.967	T	0.014	T	0.132	-1.283	0.041	-5.29	-1.684	-4.083	2.387	0.008	0.00146940823506	0.0002	.	8.245e-06	0	0	0	0	0	0	6.071e-05	6.5e-06	1	154602	rs201164394	3.763e-05	3.762e-05	3.131e-05	4.401e-05	0.0003	2.96e-05	2.656e-05	6.092e-05	2.662e-05	2.987e-05	0	0	0	0	0.0003	3.687e-05	6.624e-05	8.119e-05	1.316e-05	1.314e-05	2.572e-05	0	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.122	0.26746	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	-0.11	0.04642	N	2.46	0.14907	T	0.8	0.01866	N	0.029	0.01203	-0.9668	0.37854	T	0.014	0.05561	T	9	0.041943014	0.02897	T	0.001469	0.02241	T	0.008	0.00669	.	.	0.126345400529	0.12197	0.04111155052951969	0.04056	0.0127212984453	0.01221	0.215758189559	0.01079	T	0.00807	0.07427	T	-0.495858	0.00603	T	-0.768514	0.02817	T	0.0305357240594444	0.02072	T	0.80292	0.44963	T	0.017311966	0.00262	0.027794179	0.00959	0.017311966	0.00262	0.027794179	0.00959	-2.838	0.08538	T	.	.	0.203	0.48746	B	.;.;.	.;.;.	0.590121	0.09587	6.360	0.25861535951299097	0.01212	0.00409	0.02034	N	AEFBI	0.021746	0.01003	N	-1.81007432722735	0.00521	0.02242105	-1.91194196771279	0.00464	0.02052453	4.18406458160336E-4	0.06899	0.562547	0.31514	0	0.667123	0.63270	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	2.65	-5.29	0.02535	-4.937000	0.00197	.	.	-0.376000	0.05418	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1321:0.3976:0.1335:0.3369	2.387	0.04103	994	0.00715	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1725.98	33	chr19	53141845	.	C	T	1725.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=1082;ExcessHet=0.0000;FS=6.566;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=1.44;SOR=0.397	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1302	20	0	1	0
chr19	53267316	53267316	G	C	exonic	VN1R4	.	nonsynonymous SNV	VN1R4:NM_173857:exon1:c.C350G:p.A117G,	.	.	429	996	97	0	0	97	0.0464337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.27	B	0.303	B	0.544	N	1.000	N	2.14	M	1.22	T	-0.992	T	0.002	T	0.033	-0.469	1.836	-0.254	0.038	0.522	5.387	0.048	.	0.0745	.	0.0723	0.1661	0.0578	0.1678	0.0343	0.0512	0.0526	0.0748	0.0574507	8882	154602	rs74359534	0.0001	0.0012	0.0001	0.0001	0.0005	0.0001	0.0001	0.0003	0.0002	0.0005	2.243e-05	3.834e-05	0.0003	0.0005	0	8.66e-05	0.0002	0.0002	0.0005	0.0022	0.0004	0.0006	0.0016	0.0004	0.0004	0.0008	0.0007	0.0011	0	0.0002	0.0003	0.0016	0.0002	0	0.0002	0.0005	0.0013	0.022	0.48642	D	0.031	0.53788	D	.	.	.	.	.	.	0.544248	0.05332	N	1.356640	1	0.08975	N	.	.	.	1.22	0.37052	T	-2.67	0.57110	D	0.067	0.03956	-0.9924	0.31985	T	0.002	0.00526	T	10	0.0025487542	0.00039	T	.	.	.	0.048	0.13305	.	.	.	.	0.05313922711391094	0.05255	0.384759530948	0.39774	0.249634504318	0.03729	T	.	.	.	-0.723375	0.00026	T	-0.704733	0.05570	T	0.0342202795027098	0.02675	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12084	B	.	.	1.325632	0.17306	13.08	0.87963315563257027	0.17613	0.00907	0.03546	N	AEFGBI	0.029181	0.02709	N	-0.884326474785515	0.11215	0.5400046	-1.06817902281054	0.08332	0.4092313	4.69142761911595E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.28	-0.254	0.12350	0.747000	0.25956	.	.	-0.917000	0.02218	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.4302:0.3517:0.2182	5.387	0.15525	994	0.00715	.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.09524	1222.92	63	chr19	53267316	.	G	C	1222.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-4.947e+00;DP=1756;ExcessHet=0.6776;FS=0.701;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=51.46;MQRankSum=-9.148e+00;QD=1.35;ReadPosRankSum=1.32;SOR=0.598	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	17	0	4	0
chr19	53353112	53353112	C	T	exonic	ZNF845	.	nonsynonymous SNV	ZNF845:NM_138374:exon4:c.C2437T:p.R813C	.	.	412	1103	6	1	0	8	0.00361337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.998	D	0.935	D	.	.	1.000	N	1.535	L	3.19	T	-1.042	T	0.035	T	0.108	0.884	8.589	-0.552	-0.359	-0.561	3.500	0.056	0.00132717297459	0.0013	0.000998403	0.0010	0.0004	0.0003	0.0040	0.0002	0.0009	0.0011	0.0009	0.000912	141	154602	rs185841540	0.0009	0.0009	0.0010	0.0009	0.0029	0.0009	0.0009	0.0024	0.0023	0.0002	0.0004	3.859e-05	0.0029	5.66e-05	0.0005	0.0010	0.0008	0.0008	0.0009	0.0009	0.0010	0.0009	0.0057	0.0008	0.0007	0.0040	0.0035	0.0002	0	0.0003	0	0.0057	9.612e-05	0	0.0013	0.0014	0.0004	0.084	0.32929	T	0.192	0.28300	T	0.998	0.73220	D	0.935	0.67021	D	.	.	.	.	1	0.08975	N	0.93	0.23535	L	3.19	0.07353	T	-2.68	0.57275	D	0.144	0.19593	-1.0416	0.16830	T	0.035	0.15291	T	9	0.005784631	0.00129	T	0.001327	0.01885	T	0.056	0.15993	.	.	0.318540980066	0.31459	0.02176848010166769	0.02128	0.651714769352	0.58392	0.251920580864	0.03973	T	0.005829	0.05277	T	-0.677995	0.00049	T	-0.744889	0.03688	T	0.0491619605712485	0.05352	T	0.262274	0.04237	T	0.06725012	0.14545	0.06491781	0.13081	0.06725012	0.14544	0.06491781	0.13081	-7.645	0.58624	D	.	.	0.456	0.62898	A	.;.	.;.	0.967655	0.13443	9.954	0.97692638481148131	0.35382	0.03440	0.08579	N	AEFGBCI	0.022216	0.01082	N	-0.762286583428568	0.14301	0.7112952	-1.04552326389401	0.08800	0.4344858	0.00108863858751969	0.08206	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	2.1	-0.552	0.11227	-2.372000	0.01152	.	.	-2.961000	0.00149	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4178:0.2024:0.0:0.3798	3.500	0.07230	994	0.00715	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2323.98	61	chr19	53353112	.	C	T	2323.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.711e+00;DP=1292;ExcessHet=0.0000;FS=4.994;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.97;MQRankSum=0.00;QD=11.92;ReadPosRankSum=-1.065e+00;SOR=0.441	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr19	53456111	53456111	C	T	exonic	ZNF761;ZNF765-ZNF761	.	nonsynonymous SNV	ZNF761:NM_001289951:exon5:c.C1604T:p.S535L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1204506878	6.89e-07	6.857e-07	1.371e-06	0	3.014e-05	0	0	.	.	3.014e-05	0	0	0	0	0	0	0	0	1.972e-05	1.97e-05	0	4.039e-05	7.245e-05	5.24e-06	2.45e-06	1.921e-05	1.032e-05	7.245e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.014	0.62352	D	0.83	0.46087	P	0.49	0.47330	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	0.17612427	0.32580	T	.	.	.	.	.	.	.	0.241078983079	0.23725	.	.	.	.	0.448776513338	0.31776	T	0.103446	0.41211	T	-0.216196	0.18514	T	-0.366799	0.37263	T	.	.	.	0.615039	0.23503	T	0.042513184	0.06460	0.07593269	0.16767	0.042513184	0.06460	0.07593269	0.16766	-7.192	0.55424	T	.	.	0.471	0.63438	A	.;.	.;.	0.752911	0.11226	7.858	0.31442423989134871	0.01772	0.06111	0.12088	N	AEFBCI	.	.	.	.	.	.	.	.	.	1.06985724240414E-5	0.01202	0.322412	0.05557	0	0.31918	0.05746	0	0.320204	0.05785	0	0.221052	0.04502	0	0.0488184	0.08217	1.14	1.14	0.19817	-0.000000	0.12910	.	.	-1.841000	0.00581	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2976:0.7024:0.0:0.0	6.161	0.19578	994	0.00715	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1553.98	275	chr19	53456111	.	C	T	1553.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.26;DP=5299;ExcessHet=0.0000;FS=0.682;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=-1.163e+00;SOR=0.624	GT:AD:DP:GQ:PL	0/0:314,0:314:99:0,120,1800	20	0	1	0
chr19	53576886	53576886	A	T	exonic	ZNF331	.	nonsynonymous SNV	ZNF331:NM_001253801:exon5:c.A326T:p.K109I	.	.	435	1059	23	4	1	32	0.0144253	.	.	705236	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.17	T	0.045	B	0.025	B	0.073	N	0.993	N	1.76	L	3.21	T	-1.047	T	0.019	T	0.473	2.708	15.02	2.64	1.466	.	9.054	0.079	.	0.0053	0.00179712	0.0077	0.0013	0.0027	0	0.0082	0.0117	0.0066	0.0031	0.0074837	1157	154602	rs112855712	0.0067	0.0067	0.0068	0.0067	0.0074	0.0066	0.0066	0.0073	0.0072	0.0008	0.0038	0.0062	5.038e-05	0.0095	0.0057	0.0074	0.0062	0.0037	0.0055	0.0055	0.0058	0.0052	0.0083	0.0052	0.0051	0.0077	0.0075	0.0013	0	0.0059	0.0069	0	0.0065	0.0034	0.0083	0.0066	0.0039	0.023	0.72154	D	0.07	0.59159	T	0.045	0.21781	B	0.025	0.20508	B	0.073077	0.21369	N	0.240961	0.992882	0.41771	D	1.76	0.45711	L	3.11	0.09450	T	-4.05	0.79482	D	0.272	0.38541	-1.0468	0.15303	T	0.019	0.08033	T	10	0.007546127	0.00171	T	.	.	.	0.079	0.23065	.	.	0.46763814438	0.46390	0.27162076510049704	0.27075	1.421377758	0.85618	0.342191696167	0.16767	T	0.274482	0.64698	T	-0.470923	0.00839	T	-0.438837	0.28939	T	0.0143751333753561	0.00288	T	0.263374	0.12411	T	0.23822464	0.46697	0.16513857	0.38219	0.23822464	0.46697	0.16513857	0.38219	-5.146	0.38388	T	.	.	0.453	0.62351	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.426013	0.18436	13.73	0.99465340397474589	0.66049	0.05243	0.11077	N	AEFDBHCI	0.024695	0.01571	N	-0.779706392904022	0.13839	0.6847546	-0.859162418193244	0.13067	0.6758589	5.33915717425274E-5	0.04171	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	2.64	2.64	0.30504	0.989000	0.29229	.	.	0.691000	0.84096	0.002000	0.15269	0.000000	0.08366	0.032000	0.13371	1.0:0.0:0.0:0.0	9.054	0.35558	994	0.00715	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2089.98	34	chr19	53576886	.	A	T	2089.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.686e+00;DP=1222;ExcessHet=0.0000;FS=2.322;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.27;ReadPosRankSum=-3.070e-01;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:116,0:116:99:.:.:0,120,1800	20	0	1	0
chr19	53809587	53809587	A	G	exonic	NLRP12	.	nonsynonymous SNV	NLRP12:NM_001277126:exon3:c.T2072C:p.L691P	Familial cold autoinflammatory syndrome 2, Autosomal dominant	YES	.	.	.	.	.	.	.	0	0.02	573401	not_provided|Familial_cold_autoinflammatory_syndrome_2	MedGen:C3661900|MONDO:MONDO:0012724,MedGen:C2673198,OMIM:611762,Orphanet:247868	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.013	B	0.007	B	0.053	N	1.000	D	-0.345	N	-0.81	T	-0.962	T	0.154	T	0.097	0.025	4.144	-2.34	-0.395	-1.451	6.484	0.141	0.00713145870852	.	.	9.723e-05	0	0.0003	0	0	0	0.0012	0.0004	7.76e-05	12	154602	rs760012636	2.878e-05	2.941e-05	1.5e-05	4.27e-05	0.0005	2.155e-05	1.911e-05	0.0004	0.0003	0	0	0	0	0	0	0	0	0.0005	1.334e-05	1.325e-05	1.298e-05	1.372e-05	0.0004	2.22e-06	8.3e-07	7.358e-05	3.054e-05	0	0	0	0	0	0	0	0	0	0.0004	0.117	0.28271	T	0.29	0.27767	T	0.002	0.09854	B	0.002	0.06944	B	0.052896	0.02042	N	2.790460	0.86114	0.35390	D	.	.	.	-0.81	0.74583	T	-0.66	0.27052	N	0.078	0.23632	-0.9623	0.38742	T	0.154	0.48395	T	9	0.052826792	0.05378	T	0.007131	0.18896	T	0.141	0.37795	0.682	0.81982	0.369309618794	0.36543	0.457274139955519	0.45645	0.0794704111135	0.08936	0.403600811958	0.25570	T	0.278674	0.65133	T	-0.423316	0.01629	T	-0.523874	0.19903	T	0.0167588405311108	0.00432	T	0.347365	0.07649	T	0.060999013	0.12583	0.094483085	0.22367	0.060999013	0.12582	0.094483085	0.22366	-3.348	0.16996	T	.	.	0.057	0.00514	B	.;.;.;.;.	.;.;.;.;.	-0.053497	0.03926	0.871	0.48288405559316361	0.04017	0.00664	0.02871	N	AEFDGBHCI	0.023115	0.01244	N	-1.44365984699833	0.02267	0.09992838	-1.49943750828969	0.02349	0.1079155	0.99999968164284	0.74766	0.658043	0.49183	0	0.615948	0.52940	0	0.659943	0.59835	0	0.526803	0.08958	0	.	.	2.7	-2.34	0.06321	-2.958000	0.00739	.	.	-0.208000	0.08445	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.5676:0.0:0.4324:0.0	6.484	0.21279	994	0.00715	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	467.98	44	chr19	53809587	.	A	G	467.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.990e+00;DP=1017;ExcessHet=0.0000;FS=8.290;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.65;MQRankSum=0.00;QD=11.70;ReadPosRankSum=-1.900e-01;SOR=0.111	GT:AD:DP:GQ:PL	0/0:54,0:54:90:0,90,1659	20	0	1	0
chr19	53824168	53824168	G	A	exonic	NLRP12	.	stopgain	NLRP12:NM_001277126:exon1:c.C7T:p.R3X	Familial cold autoinflammatory syndrome 2, Autosomal dominant	.	0	1519	3	0	0	3	0.000986518	.	.	648487	Familial_cold_autoinflammatory_syndrome_2|not_provided	MONDO:MONDO:0012724,MedGen:C2673198,OMIM:611762,Orphanet:247868|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.9	T	.	.	.	.	0.757	N	1.000	N	.	.	.	.	.	.	.	.	.	5.177	32	-6.91	-0.709	-0.010	1.884	.	.	.	.	2.478e-05	0	8.649e-05	0	0	0	0.0011	6.06e-05	3.88e-05	6	154602	rs761868541	5.199e-05	5.267e-05	4.765e-05	5.638e-05	9.275e-05	4.159e-05	3.888e-05	4.612e-05	4.197e-05	0	2.236e-05	0	5.038e-05	0	0	5.755e-05	1.656e-05	9.275e-05	6.574e-06	6.567e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	0.756563	0.09657	N	0.828761	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.518	0.54845	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0698929	0.41343	T	-0.0784937	0.65014	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive;.;.	.;.;High;.;.	7.921409	0.96993	36	0.9784635197978695	0.36365	0.02727	0.07393	N	AEFDBCI	0.042342	0.06557	N	-0.345258093604357	0.27447	1.505936	-0.779488140169356	0.14998	0.7865909	0.999999987164502	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.467745	0.07146	0	0.613276	0.41899	0	.	.	4.7	-6.91	0.01490	-0.697000	0.05199	.	.	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.306:0.3554:0.2185:0.1202	1.884	0.03038	994	0.00715	DAPIN domain;.;.;DAPIN domain;DAPIN domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	587.98	63	chr19	53824168	.	G	A	587.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=873;ExcessHet=0.0000;FS=2.303;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.33;ReadPosRankSum=-2.860e-01;SOR=1.128	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,109,1405	20	0	1	0
chr19	53873617	53873617	C	G	exonic	MYADM	.	nonsynonymous SNV	MYADM:NM_001020818:exon2:c.C88G:p.R30G	.	.	424	1080	18	0	0	18	0.00826446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.649	P	0.097	B	0.028	N	1.000	N	0	N	.	.	-1.027	T	0.028	T	0.396	1.108	9.519	1.64	0.230	0.397	9.825	0.070	0.00535916803448	0.0008	0.000798722	0.0010	0	0.0003	0	0	0.0004	0.0022	0.0053	0.0008344	129	154602	rs150547635	0.0007	0.0007	0.0005	0.0009	0.0061	0.0006	0.0006	0.0057	0.0055	2.987e-05	0.0002	3.826e-05	0	5.617e-05	0.0043	0.0003	0.0009	0.0061	0.0004	0.0004	0.0004	0.0003	0.0041	0.0003	0.0003	0.0027	0.0023	7.216e-05	0	6.537e-05	0	0	0	0.0034	0.0004	0.0005	0.0041	0.083	0.37326	T	0.192	0.54159	T	0.649	0.40609	P	0.097	0.30390	B	0.027501	0.25748	N	0.232108	1	0.08975	N	0	0.06538	N	.	.	.	-1.99	0.47008	N	0.469	0.57006	-1.0273	0.21331	T	0.028	0.12190	T	9	0.0064009726	0.00145	T	0.005359	0.13740	T	0.070	0.20419	.	.	0.0482279557977	0.04254	0.41748526974413114	0.41664	0.478033407144	0.46893	0.579204559326	0.49974	T	0.021679	0.30149	T	-0.400738	0.02290	T	-0.346352	0.39623	T	0.0193615758128243	0.00641	T	0.749425	0.38803	T	0.21697219	0.44169	0.15890877	0.37086	0.21697219	0.44169	0.15890877	0.37085	-6.197	0.47898	T	.	.	0.248	0.48261	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.552415	0.33039	19.22	0.98151324419597863	0.38688	0.29574	0.23857	N	AEFDBHCI	0.239669	0.36158	N	-0.675706972574033	0.16715	0.8540628	-0.662413511955786	0.17904	0.954078	0.999021253529424	0.38237	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	3.94	1.64	0.22949	0.136000	0.15794	.	.	0.545000	0.25583	0.079000	0.22314	0.462000	0.25007	0.461000	0.28141	0.5385:0.4615:0.0:0.0	9.825	0.40071	994	0.00715	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1677.98	34	chr19	53873617	.	C	G	1677.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.68;DP=794;ExcessHet=0.0000;FS=5.307;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.48;ReadPosRankSum=-8.740e-01;SOR=1.242	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1291	20	0	1	0
chr19	54074013	54074013	C	T	exonic	TARM1	.	nonsynonymous SNV	TARM1:NM_001135686:exon4:c.G565A:p.G189S	.	.	428	1063	30	1	0	32	0.0148285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.167	B	0.025	B	.	.	1.000	N	-1.58	N	5.9	T	-0.949	T	0.001	T	0.051	0.264	5.428	-2.89	-0.368	-1.801	5.633	0.016	.	.	0.00359425	0.0071	0.0009	0	0.0016	0	0.0005	0	0.0169	0.0011319	175	154602	rs587722980	0.0014	0.0013	0.0008	0.0019	0.0179	0.0013	0.0013	0.0171	0.0168	6.33e-05	0.0005	0	8.394e-05	2.029e-05	0.0081	0.0003	0.0018	0.0179	0.0011	0.0011	0.0006	0.0016	0.0193	0.0009	0.0009	0.0161	0.0149	7.22e-05	0	0.0018	0	0.0002	0	0	0.0005	0.0005	0.0193	0.746	0.03631	T	0.804	0.04017	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.9	0.00626	T	0.4	0.03463	N	0.089	0.07811	-0.9492	0.41109	T	0.001	0.00255	T	9	0.004382521	0.00089	T	.	.	.	0.016	0.02506	.	.	0.0138822411134	0.00435	0.2144988584225561	0.21365	.	.	0.192686602473	0.00276	T	.	.	.	-0.771522	0.00013	T	-0.866734	0.00774	T	0.00562463313550613	0.00061	T	0.387561	0.09552	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05145	B	.;.	.;.	-0.702964	0.01314	0.071	0.58436056463733888	0.05993	0.00059	0.00440	N	AEFDBI	0.019243	0.00651	N	-1.69513126547227	0.00859	0.03717391	-1.67024795148733	0.01275	0.05747717	3.73360682516749E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.01	-2.89	0.05326	-1.683000	0.02035	.	.	-1.909000	0.00517	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4864:0.1724:0.3412	5.633	0.16798	994	0.00715	Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1763.98	34	chr19	54074013	.	C	T	1763.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.020e-01;DP=812;ExcessHet=0.0000;FS=12.971;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.70;ReadPosRankSum=-1.846e+00;SOR=0.183	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1233	20	0	1	0
chr19	54074944	54074944	C	T	exonic	TARM1	.	nonsynonymous SNV	TARM1:NM_001135686:exon3:c.G241A:p.E81K	.	.	431	1080	11	0	0	11	0.00506679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.005	B	0.01	B	.	.	1.000	N	1.475	L	5.73	T	-0.895	T	0.002	T	0.217	1.221	9.955	0.242	0.156	-0.557	6.107	0.030	.	0.0002	0.00239617	0.0037	0	0	0	0	0.0001	0.0053	0.0090	0.0006598	102	154602	rs2361558	0.0010	0.0010	0.0008	0.0012	0.0092	0.0009	0.0009	0.0086	0.0084	0.0001	0.0002	0	0.0002	6.088e-05	0.0037	0.0005	0.0009	0.0092	0.0007	0.0007	0.0006	0.0008	0.0106	0.0006	0.0005	0.0083	0.0075	0.0002	0	0.0002	0.0003	0.0008	0	0	0.0004	0.0019	0.0106	0.331	0.13088	T	0.188	0.28669	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.73	0.00718	T	-2.44	0.53420	N	0.114	0.10198	-0.8948	0.48502	T	0.002	0.00769	T	9	0.00880295	0.00199	T	.	.	.	0.030	0.07022	.	.	0.0138822411134	0.00435	0.42401353879973813	0.42318	.	.	0.301901340485	0.10684	T	.	.	.	-0.642795	0.00080	T	-0.690275	0.06373	T	0.00751033893248963	0.00087	T	0.555444	0.19245	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.41495	B	.;.	.;.	0.687277	0.10558	7.267	0.86566229100844183	0.16622	0.03546	0.08744	N	AEFBI	0.037680	0.05218	N	-1.41366592332775	0.02518	0.1113028	-1.45502494045766	0.02725	0.1258528	1.67188451860623E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	3.6	0.242	0.14759	-0.482000	0.06623	.	.	-2.859000	0.00171	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6639:0.0:0.3361	6.107	0.19301	994	0.00715	Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	3807.66	36	chr19	54074944	.	C	T	3807.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.56;DP=1011;ExcessHet=0.0000;FS=2.697;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=19.53;ReadPosRankSum=-8.860e-01;SOR=0.919	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1402	19	1	1	0
chr19	54075021	54075021	C	A	exonic	TARM1	.	nonsynonymous SNV	TARM1:NM_001135686:exon3:c.G164T:p.G55V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.912	P	0.703	P	.	.	1.000	N	0.55	N	2.69	T	-1.000	T	0.029	T	0.135	2.063	12.85	-0.246	-0.080	-1.461	6.225	0.082	0.00616360545823	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1421534426	4.288e-06	4.104e-06	4.23e-06	4.346e-06	3.786e-05	1.54e-06	1.01e-06	1.005e-05	4.79e-06	0	2.801e-05	0	0	0	0	0	3.448e-05	3.786e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.21801	T	0.078	0.42261	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.69	0.12268	T	-1.99	0.45949	N	0.13	0.12627	-0.9998	0.29973	T	0.029	0.12234	T	9	0.14525536	0.27555	T	0.006164	0.16141	T	0.082	0.23913	0.539	0.65018	0.0482279557977	0.04254	0.30484211880805745	0.30397	.	.	0.212783306837	0.00935	T	.	.	.	-0.360167	0.04120	T	-0.755132	0.03290	T	0.113807623792927	0.13814	T	0.39586	0.09952	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.52752	B	.;.	.;.	-0.090159	0.03699	0.754	0.97402476256484505	0.33780	0.01602	0.05196	N	AEFBI	0.038795	0.05544	N	-0.846276691561601	0.12141	0.5900385	-1.02624385806498	0.09210	0.45693	1.66524452167889E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	3.6	-0.246	0.12380	-1.465000	0.02463	.	.	-1.691000	0.00771	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3844:0.0:0.6156	6.225	0.19913	994	0.00715	Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1091.98	36	chr19	54075021	.	C	A	1091.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.614e+00;DP=894;ExcessHet=0.0000;FS=1.661;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.37;ReadPosRankSum=-3.120e-01;SOR=0.890	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1402	20	0	1	0
chr19	54076246	54076249	CTTT	-	exonic	TARM1	.	frameshift deletion	TARM1:NM_001330650:exon1:c.27_30del:p.R12Kfs*41,	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0004	0	0	0.0071	0	0.0004	0	0.0003	0.0002305	6	26028	rs587744412	0.0019	0.0019	0.0019	0.0019	0.0022	0.0018	0.0018	0.0021	0.0021	0.0006	0.0013	0.0003	0.0014	0.0005	0.0004	0.0022	0.0014	0.0002	0.0017	0.0017	0.0018	0.0015	0.0029	0.0015	0.0015	0.0025	0.0024	0.0006	0	0.0011	0	0.0029	0.0005	0	0.0028	0.0024	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1766.94	44	chr19	54076245	.	CCTTT	C	1766.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.984e+00;DP=937;ExcessHet=0.0000;FS=2.118;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.79;ReadPosRankSum=0.306;SOR=0.453	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr19	54148530	54148530	C	T	exonic	CNOT3	.	nonsynonymous SNV	CNOT3:NM_014516:exon11:c.C1277T:p.A426V,	.	.	309	1208	5	0	0	5	0.00206526	.	.	1687373	not_provided|CNOT3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.28	T	0.141	B	0.012	B	0.521	N	0.916	D	0.55	N	0.81	T	-0.958	T	0.118	T	0.41	2.709	15.02	3.15	1.782	2.590	11.650	0.037	.	0.0021	0.000798722	0.0050	0	0.0023	0	0.0131	0.0077	0	0.0006	0.0025744	398	154602	rs181910878	0.0033	0.0033	0.0032	0.0033	0.0029	0.0032	0.0032	0.0028	0.0027	0.0004	0.0017	0.0390	0	0.0034	0.0029	0.0028	0.0049	0.0006	0.0033	0.0033	0.0037	0.0029	0.0040	0.0031	0.0030	0.0036	0.0034	0.0007	0	0.0014	0.0395	0	0.0031	0	0.0040	0.0038	0.0002	0.254	0.16903	T	0.376	0.40110	T	0.075	0.24198	B	0.007	0.12992	B	0.521279	0.11739	N	0.721547	0.513227	0.36542	D	0.345	0.11182	N	0.81	0.48460	T	-0.39	0.13611	N	0.319	0.35938	-0.9577	0.39608	T	0.118	0.41429	T	10	0.0043530464	0.00088	T	.	.	.	0.078	0.22779	.	.	0.316310170894	0.31242	0.28156116599128467	0.28069	.	.	0.791018366814	0.80598	T	0.058771	0.30933	T	-0.428999	0.01503	T	-0.385696	0.35055	T	0.011296357045809	0.00167	T	0.814619	0.58869	T	0.09056884	0.21196	0.09355266	0.22103	0.101594664	0.24000	0.08740163	0.20313	-4.182	0.26490	T	.	.	0.101	0.40570	B	.;.;.;.;.	.;.;.;.;.	3.985483	0.58615	24.0	0.99851945373200446	0.93102	0.70909	0.34788	D	AEFBCI	0.225831	0.34987	N	-0.00409350171236159	0.41669	2.496618	0.0410581581743397	0.41641	2.505212	0.00757950915820653	0.11497	0.722319	0.85440	0	0.702456	0.74545	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	3.15	3.15	0.35301	2.644000	0.46279	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	11.650	0.50546	994	0.00715	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	522.98	33	chr19	54148530	.	C	T	522.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.120e-01;DP=788;ExcessHet=0.0000;FS=1.989;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.79;ReadPosRankSum=1.55;SOR=0.462	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr19	54155791	54155791	C	T	exonic	LENG1	.	nonsynonymous SNV	LENG1:NM_024316:exon4:c.G725A:p.R242Q,	.	.	415	1100	7	0	0	7	0.00317173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.062	B	0.009	B	0.000	D	0.942	D	2.175	M	0.93	T	-0.909	T	0.117	T	0.19	2.914	15.71	3.51	1.272	2.460	11.888	0.064	0.0182343459008	0.0012	0.000798722	0.0012	0	0.0005	0	0.0014	0.0016	0	0.0010	0.0009185	142	154602	rs147840420	0.0010	0.0010	0.0010	0.0010	0.0028	0.0010	0.0010	0.0018	0.0014	0.0001	0.0009	3.861e-05	2.523e-05	0.0007	0.0028	0.0011	0.0011	0.0009	0.0008	0.0008	0.0007	0.0008	0.0012	0.0007	0.0006	0.0010	0.0010	0.0001	0	0.0009	0	0	0.0008	0	0.0012	0.0009	0.0010	0.062	0.36912	T	0.076	0.42614	T	.	.	.	.	.	.	0.000060	0.53742	D	0.128295	0.941604	0.37340	D	.	.	.	0.93	0.44065	T	-1.18	0.30140	N	0.191	0.20925	-0.9093	0.46940	T	0.117	0.41187	T	10	0.015659153	0.00329	T	0.018234	0.40224	T	0.064	0.18567	.	.	0.689310383108	0.68664	0.30883921664517056	0.30796	0.0285750860134	0.02937	0.374609172344	0.21491	T	.	.	.	-0.483914	0.00702	T	-0.503264	0.22009	T	0.0580716453120877	0.06862	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.14568	B	.	.	2.072634	0.26359	17.09	0.99831141992168482	0.91284	0.86931	0.46325	D	AEFDBHCI	0.237700	0.35994	N	-0.161699088804172	0.34737	1.986519	-0.0958454314900773	0.35561	2.058878	0.999996435405343	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	4.54	3.51	0.39297	1.869000	0.39156	.	.	0.599000	0.40250	0.075000	0.22209	0.000000	0.08366	0.618000	0.31844	0.0:0.9129:0.0:0.0871	11.888	0.51895	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3070.11	33	chr19	54155791	.	C	T	3070.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.16;DP=945;ExcessHet=0.1072;FS=2.673;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=0.326;SOR=0.546	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1199	19	0	2	0
chr19	54168618	54168618	C	T	exonic	TMC4	.	nonsynonymous SNV	TMC4:NM_001145303:exon4:c.G523A:p.V175M	.	.	143	1375	4	0	0	4	0.00145243	.	.	2330274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.552	P	0.094	B	0.184	N	1.000	D	1.54	L	0.98	T	-1.057	T	0.069	T	0.3	1.685	11.59	1.92	0.858	0.029	3.656	0.039	0.0502262193264	.	.	0.0002	0	0	0	0	0.0003	0.0030	0.0001	0.0001035	16	154602	rs772052187	9.281e-05	9.713e-05	8.522e-05	0.0001	0.0023	7.989e-05	7.457e-05	0.0014	0.0011	3.018e-05	4.754e-05	0	0	0	0.0023	8.519e-05	0.0002	0.0001	5.941e-05	5.913e-05	7.737e-05	4.057e-05	0.0001	3.09e-05	2.219e-05	6.816e-05	5.096e-05	0	0	0	0	0	0	0	0.0001	0	0	0.084	0.32929	T	0.057	0.46632	T	.	.	.	.	.	.	0.184052	0.17024	N	0.582606	0.999607	0.20887	N	.	.	.	0.98	0.42122	T	-0.41	0.14000	N	0.287	0.32812	-1.0568	0.12569	T	0.069	0.28313	T	10	0.18887287	0.34462	T	0.050226	0.64151	D	0.039	0.10176	0.469	0.54214	0.492404595834	0.48873	0.2693207544665042	0.26845	.	.	0.506427943707	0.39723	T	0.009826	0.08919	T	-0.345864	0.04992	T	-0.47954	0.24496	T	0.0351790749495487	0.02839	T	0.633437	0.24876	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.;.;.	.;.;.	1.429020	0.18466	13.75	0.97847522170714418	0.36372	0.21501	0.21424	N	ALL	0.272323	0.38798	N	-0.258925140276037	0.30747	1.717434	-0.253939523740027	0.29635	1.661939	0.999999999952212	0.74766	0.685219	0.55550	0	0.567169	0.20442	1	0.674405	0.61402	0	0.825845	0.99933	0	.	.	4.2	1.92	0.24912	0.218000	0.17407	.	.	0.587000	0.30956	0.934000	0.32416	0.000000	0.08366	0.747000	0.35681	0.1492:0.4427:0.3115:0.0967	3.656	0.07759	994	0.00715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	539.98	37	chr19	54168618	.	C	T	539.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.320e-01;DP=840;ExcessHet=0.0000;FS=4.452;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=-1.491e+00;SOR=0.248	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,103,1201	20	0	1	0
chr19	54220579	54220579	T	C	exonic	LILRB3	.	nonsynonymous SNV	LILRB3:NM_001081450:exon6:c.A1207G:p.N403D	.	.	28	1493	1	0	0	1	0.000334784	.	.	2388885	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs757732370	8.308e-05	0.0001	7.693e-05	8.924e-05	0.0002	7.046e-05	6.556e-05	0.0001	7.533e-05	0.0002	0.0001	0	0	0	0	8.714e-05	0.0002	1.228e-05	7.085e-05	9.238e-05	3.431e-05	0.0001	0.0002	3.441e-05	2.496e-05	8.396e-05	5.722e-05	0.0002	0	0	0	0	0	0	3.811e-05	0	0	0.559	0.06401	T	0.728	0.05203	T	.	.	.	.	.	.	0.004481	0.01026	N	3.553560	1	0.08975	N	.	.	.	5.8	0.00668	T	-0.69	0.23372	N	0.045	0.02179	-0.8972	0.48273	T	0.002	0.00707	T	10	0.035161376	0.01753	T	0.004119	0.09869	T	.	.	.	.	0.0666544352282	0.05500	0.0569966728905316	0.05640	.	.	.	.	.	.	.	.	-0.501714	0.00559	T	-0.828003	0.01298	T	0.059353334731685	0.07066	T	0.10089	0.00751	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.11027	B	.;.;.	.;.;.	-2.022694	0.00096	0.002	0.81482084239766217	0.13707	0.00137	0.00841	N	AEFDGBI	.	.	.	-1.67077434205368	0.00950	0.04117459	-1.80334002111021	0.00748	0.03336513	0.998866359128142	0.37845	0.516011	0.20929	0	0.434261	0.06401	1	0.491513	0.07944	0	0.586402	0.36253	0	.	.	2.71	-5.43	0.02426	-5.552000	0.00136	.	.	-2.514000	0.00259	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1854:0.4026:0.0:0.4119	4.874	0.13006	994	0.00715	.;Immunoglobulin|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	503.98	64	chr19	54220579	.	T	C	503.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.200e+00;DP=2613;ExcessHet=0.0000;FS=22.009;InbreedingCoeff=-0.0248;MLEAC=1;MLEAF=0.024;MQ=38.16;MQRankSum=4.30;QD=5.04;ReadPosRankSum=-3.146e+00;SOR=0.049	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	20	0	1	0
chr19	54221344	54221344	-	CGG	exonic	LILRB3	.	nonframeshift insertion	LILRB3:NM_001081450:exon5:c.693_694insCCG:p.G232_A630delinsPGPVLAPGQSLTLQCGSDVGYDRFVLYKEGERDFLQRPGQQPQAGLSQANFTLGPVSRSYGGQYRCYGAHNLSSEWSAPSDPLDILITGQIYDTVSLSAQPGPTVASGENVTLLCQSRGYFDTFLLTKEGAAHPPLRLRSMYGAHKYQAEFPMSPVTSAHAGTYRCYGSRSSNPHLLSFPSEPLELMVSGHSGGSSLPPTGPPSTPGLGRYLEVLIGVSVAFVLLLFLLLFLLLRRQRHSKHRTSDQRKTDFQRPAGAAETEPKDRGLLRRSSPAADVQEENLYAAVKDTQSEDRVELDSQQSPHDEDPQAVTYAPVKHSSPRREMASPPSSLSGEFLDTKDRQVEEDRQMDTEAAASEASQDVTYAQLHSLTLRRKATEPPPSQEGEPPAEPSIYATLAIH*	.	.	35	1231	253	3	0	259	0.0951856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0028	0.0001	0.0001	0.0014	0.0001	0.0001	0.0011	0.0009	0.0009	0.0014	8.203e-05	0.0007	8.106e-05	0.0002	7.586e-05	0.0002	7.712e-05	0.0002	0.0038	0.0002	0.0002	0.0006	0.0001	0.0001	0.0003	0.0003	0.0005	0	0.0002	0	0.0006	0	0	2.989e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	600.4	37	chr19	54221344	.	C	CCGG	600.4	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-1.898e+00;DP=997;ExcessHet=1.1607;FS=102.301;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=33.45;MQRankSum=1.66;QD=2.24;ReadPosRankSum=-2.823e+00;SOR=6.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:47,0:47:99:.:.:0,120,1800	16	0	5	0
chr19	54221348	54221348	-	ACTGAG	exonic	LILRB3	.	nonframeshift insertion	LILRB3:NM_001081450:exon5:c.689_690insCTCAGT:p.Q231_A630delinsSVQGPVLAPGQSLTLQCGSDVGYDRFVLYKEGERDFLQRPGQQPQAGLSQANFTLGPVSRSYGGQYRCYGAHNLSSEWSAPSDPLDILITGQIYDTVSLSAQPGPTVASGENVTLLCQSRGYFDTFLLTKEGAAHPPLRLRSMYGAHKYQAEFPMSPVTSAHAGTYRCYGSRSSNPHLLSFPSEPLELMVSGHSGGSSLPPTGPPSTPGLGRYLEVLIGVSVAFVLLLFLLLFLLLRRQRHSKHRTSDQRKTDFQRPAGAAETEPKDRGLLRRSSPAADVQEENLYAAVKDTQSEDRVELDSQQSPHDEDPQAVTYAPVKHSSPRREMASPPSSLSGEFLDTKDRQVEEDRQMDTEAAASEASQDVTYAQLHSLTLRRKATEPPPSQEGEPPAEPSIYATLAIH*	.	.	40	1377	86	2	17	107	0.0316456	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.611e-05	0.0006	2.863e-05	2.352e-05	0.0004	1.911e-05	1.696e-05	0.0002	0.0002	0.0003	0.0004	0	8.523e-05	4.043e-05	0	6.539e-06	3.528e-05	2.565e-05	2.706e-05	0.0007	0	5.539e-05	7.634e-05	8.32e-06	5.26e-06	2.024e-05	1.061e-05	7.634e-05	0	0	0	0	0	0	1.488e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	159.07	38	chr19	54221348	.	C	CACTGAG	159.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.545;DP=1000;ExcessHet=0.1072;FS=70.313;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=33.75;MQRankSum=0.809;QD=1.79;ReadPosRankSum=-2.003e+00;SOR=6.090	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:56,0:56:99:.:.:0,120,1800	19	0	2	0
chr19	54240481	54240481	-	ATAACC	exonic	LILRA6	.	nonframeshift insertion	LILRA6:NM_001360167:exon6:c.1041_1042insGGTTAT:p.S347_R348insGY	.	.	100	1406	1	4	11	20	0.00319036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0044	0.0003	0.0004	0.0015	0.0003	0.0003	0.0008	0.0006	6.026e-05	0.0002	0.0009	0.0001	0.0009	0.0015	0.0003	0.0005	0.0007	0.0005	0.0035	0.0005	0.0005	0.0008	0.0004	0.0004	0.0006	0.0005	7.538e-05	0	0.0004	0.0007	0	0.0006	0	0.0007	0.0005	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	197.74	48	chr19	54240481	.	A	AATAACC	197.74	.	AC=2;AF=0.048;AN=42;DP=2409;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.8521;MLEAC=1;MLEAF=0.024;MQ=40.95;QD=32.82;SOR=1.981	GT:AD:DP:GQ:PL	0/0:377,0:377:99:0,120,1800	20	1	0	0
chr19	54274725	54274725	-	GAG	exonic	LILRB2	.	nonframeshift insertion	LILRB2:NM_001278404:exon13:c.1406_1407insCTC:p.P469delinsPS	.	.	9	1500	9	4	0	17	0.00563474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.473e-05	0	0	0	0.0002	0	0	0.0001	0.0001153	3	26028	rs771433769	0.0022	0.0035	0.0013	0.0030	0.0283	0.0021	0.0021	0.0274	0.0270	0.0001	0.0008	0	0.0046	3.744e-05	0.0046	0.0004	0.0022	0.0283	0.0022	0.0031	0.0016	0.0028	0.0460	0.0020	0.0019	0.0410	0.0390	0.0003	0	0.0009	0	0.0039	9.436e-05	0.0068	0.0011	0.0010	0.0460	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	416.94	40	chr19	54274725	.	A	AGAG	416.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.88;DP=824;ExcessHet=0.0000;FS=19.127;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.58;MQRankSum=-9.233e+00;QD=4.34;ReadPosRankSum=0.030;SOR=2.559	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1355	20	0	1	0
chr19	54274728	54274729	TT	-	exonic	LILRB2	.	frameshift deletion	LILRB2:NM_001278404:exon13:c.1403_1404del:p.E468fs	.	.	10	1499	9	4	0	17	0.00563847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.473e-05	0	0	0	0.0002	0	0	0.0001	0.0001153	3	26028	rs781576541	0.0023	0.0035	0.0014	0.0032	0.0305	0.0022	0.0022	0.0295	0.0291	0.0001	0.0009	0	0.0048	3.744e-05	0.0051	0.0004	0.0022	0.0305	0.0023	0.0031	0.0017	0.0029	0.0485	0.0021	0.0020	0.0433	0.0413	0.0003	0	0.0009	0	0.0039	9.423e-05	0.0068	0.0011	0.0014	0.0485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	447.94	40	chr19	54274727	.	GTT	G	447.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.44;DP=824;ExcessHet=0.0000;FS=21.695;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.55;MQRankSum=-9.290e+00;QD=4.62;ReadPosRankSum=0.349;SOR=2.690	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1355	20	0	1	0
chr19	54274733	54274733	T	-	exonic	LILRB2	.	frameshift deletion	LILRB2:NM_001278404:exon13:c.1399delA:p.R467fs	.	.	9	1501	8	4	0	16	0.00530152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.649e-05	0	0	0	0.0002	0	0	6.094e-05	.	.	.	rs745907042	0.0024	0.0034	0.0015	0.0034	0.0321	0.0024	0.0023	0.0311	0.0307	0.0002	0.0009	0	0.0049	3.744e-05	0.0052	0.0004	0.0024	0.0321	0.0024	0.0031	0.0018	0.0030	0.0488	0.0022	0.0021	0.0436	0.0416	0.0003	0	0.0009	0	0.0045	9.427e-05	0.0068	0.0011	0.0014	0.0488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	444.94	40	chr19	54274732	.	CT	C	444.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.58;DP=826;ExcessHet=0.0000;FS=21.842;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.47;MQRankSum=-9.342e+00;QD=4.54;ReadPosRankSum=0.127;SOR=2.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1355	20	0	1	0
chr19	54274811	54274811	G	A	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon13:c.C1321T:p.P441S	.	.	10	1510	1	1	0	3	0.000992392	.	.	2357763	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.181	B	0.042	B	.	.	1.000	N	2.005	M	6.74	T	-0.971	T	0.002	T	0.141	-0.141	3.310	-2.63	-1.544	-0.622	2.880	0.040	0.00125445120863	0.0007	0.000599042	0.0008	0.0006	0.0004	0.0005	0.0012	0.0008	0.0022	0.0010	7.76e-05	12	154602	rs150493192	0.0004	0.0004	0.0004	0.0004	0.0008	0.0004	0.0004	0.0007	0.0006	0.0004	0.0003	0	0.0002	0.0013	0.0002	0.0003	0.0008	0.0008	0.0006	0.0006	0.0005	0.0007	0.0016	0.0005	0.0005	0.0011	0.0010	0.0007	0	0.0016	0	0	0.0008	0	0.0003	0.0019	0.0004	0.166	0.25457	T	0.096	0.44702	T	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	.	.	.	6.74	0.00523	T	-3.7	0.73151	D	0.039	0.02088	-0.9705	0.37094	T	0.002	0.00585	T	9	0.009287894	0.00210	T	0.001254	0.01683	T	0.040	0.10527	.	.	0.107399877778	0.10242	0.10588735684906393	0.10518	0.0468516035964	0.05097	0.398908168077	0.24916	T	.	.	.	-0.57251	0.00214	T	-0.66397	0.08001	T	0.0137508450613714	0.00258	T	0.716728	0.32905	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13221	B	.;.;.;.	.;.;.;.	1.213996	0.16070	12.30	0.43291552645115311	0.03249	0.00329	0.01719	N	AEFBI	0.058261	0.10920	N	-1.7355209526116	0.00723	0.03122617	-1.89169239811779	0.00508	0.02253057	0.563133108519927	0.21430	0.615755	0.39536	0	0.659912	0.62753	0	0.618376	0.41669	0	0.542086	0.14980	0	.	.	1.31	-2.63	0.05775	-0.227000	0.09131	.	.	-0.851000	0.02709	0.002000	0.15269	0.000000	0.08366	0.006000	0.07323	0.4112:0.0:0.3846:0.2041	2.880	0.05297	994	0.00715	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1249.98	40	chr19	54274811	.	G	A	1249.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.80;DP=867;ExcessHet=0.0000;FS=0.755;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.80;MQRankSum=-3.324e+00;QD=11.90;ReadPosRankSum=-1.153e+00;SOR=0.850	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1355	20	0	1	0
chr19	54276000	54276000	G	A	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon12:c.C1253T:p.A418V	.	.	9	1508	5	0	0	5	0.00165508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	.	.	1.000	N	2.55	M	6.72	T	-0.969	T	0.007	T	0.391	3.654	18.58	1.82	1.387	0.015	7.276	0.114	0.00407043383268	0.0002	0.000199681	0.0002	0	8.64e-05	0	0.0002	0.0003	0.0011	0.0002	0.0001876	29	154602	rs199590986	0.0002	0.0002	0.0002	0.0002	0.0009	0.0001	0.0001	0.0003	0.0002	5.974e-05	0.0001	0.0002	0	5.617e-05	0.0009	0.0002	0.0002	0.0002	9.845e-05	9.842e-05	0.0001	6.711e-05	0.0004	6e-05	4.874e-05	7.282e-05	5.087e-05	2.404e-05	0	0	0	0	9.416e-05	0.0034	0.0001	0.0005	0.0004	0.001	0.78490	D	0.098	0.39040	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	6.72	0.00542	T	-2.1	0.47852	N	0.198	0.24883	-0.9691	0.37386	T	0.007	0.02439	T	9	0.08686784	0.14808	T	0.00407	0.09712	T	0.114	0.32008	.	.	0.366085729538	0.36220	0.13430764595650893	0.13354	0.303414013437	0.32666	0.483187556267	0.36495	T	.	.	.	-0.345778	0.04997	T	-0.438271	0.29002	T	0.276568174362183	0.24026	T	0.768923	0.39853	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.32992	B	.;.;.;.	.;.;.;.	1.665127	0.21236	15.11	0.99837296891693572	0.91800	0.02962	0.07799	N	AEFDBI	0.029279	0.02734	N	0.0405269444061844	0.43708	2.658473	-0.182166606925574	0.32191	1.829058	0.800054526566993	0.24170	0.623552	0.39893	0	0.659912	0.62753	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	1.82	1.82	0.24209	-0.378000	0.07503	.	.	-0.311000	0.06080	0.000000	0.06391	0.000000	0.08366	0.289000	0.24236	0.0:0.0:1.0:0.0	7.276	0.25458	994	0.00715	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1264.98	110	chr19	54276000	.	G	A	1264.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.892;DP=892;ExcessHet=0.0000;FS=0.761;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.85;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-9.670e-01;SOR=0.850	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1416	20	0	1	0
chr19	54336873	54336873	T	A	exonic	LILRA4	.	nonsynonymous SNV	LILRA4:NM_012276:exon6:c.A1223T:p.H408L,	.	.	1	1510	11	0	0	11	0.00362917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.0	B	0.001	B	0.003	N	1.000	N	1.06	L	5.84	T	-0.894	T	0.003	T	0.182	0.197	5.063	-1.74	-0.517	-2.031	3.082	0.035	.	0.0002	0.0147764	0.0105	0.0428	0.0058	0.0006	0.0030	0.0071	0.0165	0.0156	0.0088679	1371	154602	rs74869671	0.0010	0.0014	0.0008	0.0013	0.0086	0.0010	0.0010	0.0081	0.0079	0.0006	0.0006	0.0018	0.0006	3.744e-05	0.0059	0.0004	0.0019	0.0086	0.0012	0.0013	0.0011	0.0014	0.0110	0.0011	0.0010	0.0087	0.0078	0.0013	0	0.0005	0.0029	0.0014	9.455e-05	0.0034	0.0008	0.0019	0.0110	0.385	0.11015	T	0.645	0.06859	T	.	.	.	.	.	.	0.002721	0.00911	N	3.662820	1	0.08975	N	.	.	.	5.84	0.00647	T	-5.13	0.83224	D	0.057	0.02861	-0.8940	0.48577	T	0.003	0.00800	T	10	0.0052117705	0.00113	T	.	.	.	0.035	0.08770	.	.	.	.	0.26885178188785624	0.26798	0.0924982757339	0.10440	0.253600180149	0.04156	T	.	.	.	-0.642135	0.00081	T	-0.687482	0.06536	T	0.007240401794773	0.00083	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13032	B	.	.	-0.226984	0.02955	0.437	0.7812703322597675	0.12167	0.01829	0.05679	N	AEFDBCI	0.046476	0.07723	N	-1.48778855808194	0.01936	0.08496868	-1.57917659399801	0.01783	0.08113881	1.32457840937303E-4	0.05486	0.428477	0.06694	0	0.187218	0.04217	2	0.315538	0.05692	2	0.613276	0.41899	0	.	.	2.4	-1.74	0.07622	-1.680000	0.02040	.	.	-0.180000	0.10397	0.000000	0.06391	0.000000	0.08366	0.049000	0.15107	0.4319:0.0:0.22:0.3481	3.082	0.05887	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	7080.98	479	chr19	54336873	.	T	A	7080.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.10;DP=7757;ExcessHet=0.0000;FS=0.532;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.70;MQRankSum=0.356;QD=14.78;ReadPosRankSum=1.38;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:437,0:437:99:.:.:0,120,1800	20	0	1	0
chr19	54336874	54336874	G	A	exonic	LILRA4	.	nonsynonymous SNV	LILRA4:NM_012276:exon6:c.C1222T:p.H408Y,	.	.	1	1509	11	0	1	12	0.00363156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.01	B	0.004	B	0.003	N	1.000	N	2.54	M	5.78	T	-0.804	T	0.005	T	0.115	0.452	6.455	0.177	0.109	-1.057	4.409	0.033	.	.	0.0147764	0.0105	0.0428	0.0058	0.0007	0.0030	0.0070	0.0165	0.0156	0.0088421	1367	154602	rs75547479	0.0010	0.0014	0.0008	0.0013	0.0086	0.0010	0.0010	0.0081	0.0079	0.0007	0.0006	0.0018	0.0006	3.744e-05	0.0059	0.0004	0.0019	0.0086	0.0012	0.0013	0.0011	0.0014	0.0110	0.0011	0.0010	0.0086	0.0078	0.0013	0	0.0005	0.0029	0.0014	9.411e-05	0.0034	0.0007	0.0019	0.0110	0.288	0.15098	T	0.744	0.04912	T	.	.	.	.	.	.	0.002721	0.00911	N	3.662820	1	0.08975	N	.	.	.	5.78	0.00681	T	-2.86	0.60188	D	0.088	0.06587	-0.8042	0.54897	T	0.005	0.01615	T	10	0.005057603	0.00109	T	.	.	.	0.033	0.08068	.	.	.	.	0.11517658060421956	0.11445	0.0880693252192	0.09946	0.270498722792	0.06206	T	.	.	.	-0.638259	0.00085	T	-0.681773	0.06876	T	0.00814308446363215	0.00097	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.10159	B	.	.	0.450209	0.08202	4.940	0.80816851736566708	0.13383	0.02339	0.06686	N	AEFDBCI	0.046476	0.07723	N	-0.966026026559659	0.09336	0.441451	-1.10796583407816	0.07547	0.3675224	8.20931551209457E-5	0.04703	0.428477	0.06694	0	0.187218	0.04217	2	0.315538	0.05692	2	0.613276	0.41899	0	.	.	2.4	0.177	0.14338	-0.391000	0.07383	.	.	-0.110000	0.15115	0.000000	0.06391	0.000000	0.08366	0.053000	0.15439	0.3496:0.0:0.6504:0.0	4.409	0.10852	994	0.00715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	7080.98	479	chr19	54336874	.	G	A	7080.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.17;DP=7755;ExcessHet=0.0000;FS=0.532;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.68;MQRankSum=0.356;QD=14.78;ReadPosRankSum=0.895;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:437,0:437:99:.:.:0,120,1800	20	0	1	0
chr19	54337012	54337012	G	C	exonic	LILRA4	.	nonsynonymous SNV	LILRA4:NM_012276:exon6:c.C1084G:p.H362D,	.	.	5	1308	208	1	0	210	0.07431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.0	B	0.002	B	0.000	N	1.000	N	0.41	N	4.17	T	-0.950	T	0.006	T	0.103	-0.985	0.283	-5.02	-4.799	-7.167	2.137	0.047	0.00132864260766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.811e-06	0.0096	2.797e-06	2.825e-06	.	6.6e-07	4.4e-07	.	.	0	0	0	0	7.632e-05	0	0	0	0	2.059e-05	0.0042	1.341e-05	2.813e-05	0.0002	5.47e-06	2.52e-06	.	.	2.591e-05	0	0	0	0.0002	0	0	1.515e-05	0	0	0.438	0.09319	T	0.431	0.13673	T	.	.	.	.	.	.	0.000037	0.00348	N	4.946150	1	0.08975	N	.	.	.	4.17	0.02767	T	-0.71	0.20145	N	0.221	0.24758	-0.9501	0.40955	T	0.006	0.01944	T	10	0.062004	0.07861	T	0.001329	0.01885	T	0.047	0.12962	0.626	0.76141	0.0611884634855	0.05136	0.25968181529115286	0.25882	0.104041796668	0.11770	0.278527855873	0.07288	T	.	.	.	-0.360524	0.04100	T	-0.755644	0.03271	T	0.0725965366041935	0.09010	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11027	B	.	.	-1.576456	0.00252	0.004	0.34773576372039655	0.02146	0.00354	0.01821	N	AEFDBHCI	0.024273	0.01477	N	-2.30271407116855	0.00045	0.001924218	-2.42840930346014	0.00034	0.001487296	0.999812918144341	0.43459	0.428477	0.06694	0	0.187218	0.04217	2	0.315538	0.05692	2	0.613276	0.41899	0	.	.	2.51	-5.02	0.02759	-6.688000	0.00071	.	.	-2.613000	0.00232	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2159:0.4137:0.1634:0.207	2.137	0.03536	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	50.98	66	chr19	54337012	.	G	C	50.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.32;DP=1838;ExcessHet=0.0000;FS=32.599;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.94;MQRankSum=-1.878e+01;QD=0.14;ReadPosRankSum=-4.945e+00;SOR=3.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:56,0:56:99:.:.:0,120,1800	20	0	1	0
chr19	54337555	54337555	C	T	exonic	LILRA4	.	nonsynonymous SNV	LILRA4:NM_012276:exon5:c.G797A:p.R266H,	.	.	1	1505	16	0	0	16	0.00528751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.006	B	0.022	B	0.034	N	1.000	N	1.445	L	2.64	T	-1.011	T	0.019	T	0.047	-1.661	0.012	-5.02	-2.651	-2.350	3.001	0.024	0.00273979845203	0.0044	0.00139776	0.0038	0.0003	0.0017	0.0006	0.0012	0.0063	0.0023	0.0004	0.0037451	579	154602	rs145556773	0.0049	0.0049	0.0051	0.0047	0.0082	0.0048	0.0048	0.0063	0.0057	0.0014	0.0028	0.0013	0.0005	0.0006	0.0082	0.0059	0.0046	0.0005	0.0034	0.0034	0.0036	0.0032	0.0062	0.0032	0.0031	0.0057	0.0055	0.0009	0	0.0027	0.0003	0.0002	0.0005	0.0034	0.0062	0.0052	0.0006	0.602	0.05601	T	0.404	0.14818	T	.	.	.	.	.	.	0.033919	0.01778	N	2.356960	1	0.08975	N	.	.	.	2.64	0.12780	T	-2.34	0.51811	N	0.084	0.06059	-1.0106	0.26729	T	0.019	0.07986	T	10	0.0053166747	0.00117	T	0.00274	0.05665	T	0.024	0.04979	.	.	0.0611884634855	0.05136	0.1450600283523566	0.14429	0.0976345983673	0.11022	0.295019179583	0.09661	T	.	.	.	-0.746989	0.00019	T	-0.843163	0.01052	T	0.00269266171112516	0.00028	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06525	B	.	.	0.066364	0.04760	1.381	0.83224066546743725	0.14609	0.00200	0.01150	N	AEFDBI	0.022727	0.01174	N	-1.61876957896486	0.01174	0.05101595	-1.7797284822483	0.00826	0.03689805	0.154342603501666	0.17492	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.51	-5.02	0.02759	-1.171000	0.03223	.	.	-2.023000	0.00434	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1276:0.1549:0.1272:0.5903	3.001	0.05649	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1611.98	67	chr19	54337555	.	C	T	1611.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.461;DP=1555;ExcessHet=0.0000;FS=0.683;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=1.37;SOR=0.720	GT:AD:DP:GQ:PL	0/0:69,0:69:99:0,120,1800	20	0	1	0
chr19	54436117	54436117	G	A	exonic	TTYH1	.	nonsynonymous SNV	TTYH1:NM_001005367:exon12:c.G1295A:p.S432N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.089	B	0.035	B	0.276	N	1.000	D	.	.	2.72	T	-1.017	T	0.020	T	0.293	3.460	17.72	4.38	2.151	3.201	8.633	0.052	0.0200780745166	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1156431490	2.736e-06	2.736e-06	4.084e-06	1.375e-06	2.519e-05	6.4e-07	4.3e-07	.	.	0	0	0	2.519e-05	0	0	0	4.967e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.15047	T	0.0	0.92824	D	0.089	0.25085	B	0.035	0.22741	B	0.276482	0.15027	N	0.639053	0.605781	0.81001	D	.	.	.	2.72	0.11947	T	-0.36	0.13035	N	0.261	0.29544	-1.0170	0.24690	T	0.020	0.08220	T	9	0.11270404	0.21148	T	0.020078	0.42598	T	0.052	0.14661	0.291	0.25241	0.043077524339	0.03247	0.5120270155747371	0.51124	0.603066613785	0.55293	0.606552064419	0.53829	T	.	.	.	-0.264379	0.12392	T	-0.520685	0.20226	T	0.819581151008606	0.47741	D	.	.	.	.	.	.	.	.	.	.	.	-5.751	0.44145	T	.	.	0.134	0.29144	B	.	.	1.226105	0.16205	12.39	0.99607075411116064	0.74575	0.80642	0.40227	D	AEFDBCI	0.179554	0.30685	N	-0.125064444972904	0.36302	2.096616	0.0210182149133021	0.40692	2.432593	0.996208395829484	0.34592	0.741868	0.97996	0	0.550933	0.16991	0	0.774882	0.98623	0	0.664235	0.64389	0	.	.	4.38	4.38	0.52019	1.287000	0.32889	.	.	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1064:0.0:0.8936:0.0	8.633	0.33094	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2361.98	35	chr19	54436117	.	G	A	2361.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.090;DP=1016;ExcessHet=0.0000;FS=1.163;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.98;MQRankSum=-9.830e-01;QD=13.20;ReadPosRankSum=-1.307e+00;SOR=0.807	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,120,1800	20	0	1	0
chr19	54462641	54462641	G	A	exonic	LENG9	.	nonsynonymous SNV	LENG9:NM_001301782:exon1:c.C886T:p.R296C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.684	P	0.000	U	1.000	N	0.975	L	0.2	T	-0.947	T	0.127	T	0.473	2.841	15.46	1.7	0.403	2.931	8.787	0.258	0.0137087630494	7.7e-05	0.000798722	0.0004	0.0003	0	0.0046	0	0	0	0	0.000304	47	154602	rs114383943	0.0001	0.0001	0.0001	0.0001	0.0044	0.0001	0.0001	0.0038	0.0036	0.0001	0	0	0.0044	1.902e-05	0	2.698e-06	9.936e-05	2.319e-05	0.0003	0.0003	0.0003	0.0003	0.0069	0.0002	0.0002	0.0052	0.0045	0.0001	0	0	0	0.0069	0	0	0	0	0.0002	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000307	0.45977	U	0.079389	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.453	0.49055	-0.9466	0.41549	T	0.127	0.43298	T	10	0.010062158	0.00225	T	0.013709	0.33318	T	.	.	.	.	0.294206760003	0.29026	0.451610044625588	0.45079	.	.	0.560456514359	0.47333	T	0.17968	0.53076	T	-0.316774	0.07165	T	-0.222673	0.52477	T	0.130237655380894	0.15404	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285	0.51763	B	.	.	3.761929	0.53988	23.4	0.99720440658639353	0.81984	0.45875	0.27635	N	AEFDBHCI	0.223034	0.34744	N	-0.13906918872334	0.35702	2.054006	-0.282662735792849	0.28668	1.600269	0.999999999885105	0.74766	0.40479	0.06251	1	0.516746	0.08562	0	0.519653	0.09787	0	0.492483	0.08430	1	.	.	3.98	1.7	0.23359	1.453000	0.34778	.	.	0.676000	0.76740	0.407000	0.26226	1.000000	0.68203	0.001000	0.02609	0.0:0.0:0.5901:0.4099	8.787	0.33989	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1311.98	33	chr19	54462641	.	G	A	1311.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.090e-01;DP=918;ExcessHet=0.0000;FS=2.734;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=-4.340e-01;SOR=0.466	GT:AD:DP:GQ:PL	0/1:42,52:94:99:1326,0,1042	20	0	1	0
chr19	54463304	54463304	G	A	exonic	LENG9	.	nonsynonymous SNV	LENG9:NM_001301782:exon1:c.C223T:p.R75C	.	.	423	1093	6	0	0	6	0.00273723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.456	P	0.035	B	0.095	U	0.939	D	2.765	M	1.23	T	-0.999	T	0.089	T	0.22	2.071	12.88	1.04	0.188	2.424	6.438	0.097	.	0.0001	0.00499201	0.0117	0.0026	0.0143	0	0	0.0025	0	0.0167	0.0015977	247	154602	rs373060387	0.0014	0.0014	0.0009	0.0019	0.0177	0.0013	0.0013	0.0169	0.0166	0	0.0010	0.0037	2.832e-05	0	0.0023	0.0003	0.0017	0.0177	0.0012	0.0011	0.0009	0.0015	0.0215	0.0010	0.0010	0.0182	0.0169	0.0004	0	0.0010	0.0043	0	0	0.0034	0.0003	0.0009	0.0215	.	.	.	0.003	0.76473	D	.	.	.	.	.	.	0.095300	0.20131	U	0.483160	0.938785	0.37238	D	.	.	.	.	.	.	.	.	.	0.432	0.47115	-0.9994	0.30087	T	0.089	0.34243	T	10	0.008618861	0.00195	T	.	.	.	.	.	.	.	0.307332253619	0.30352	0.5991197196724157	0.59842	.	.	0.89994341135	0.96435	D	0.336677	0.70616	T	-0.335093	0.05735	T	-0.24114	0.50686	T	0.0886082979198304	0.11052	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.38480	B	.	.	4.461078	0.69433	25.4	0.99406286846987768	0.63075	0.44479	0.27327	N	ALL	0.247735	0.36826	N	-0.406836011066306	0.25230	1.368023	-0.467280422334379	0.23061	1.255693	0.999999999996529	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.492483	0.08430	1	.	.	3.31	1.04	0.19220	2.017000	0.40600	.	.	-0.406000	0.05278	1.000000	0.71638	1.000000	0.68203	0.014000	0.10232	0.1142:0.1867:0.6991:0.0	6.438	0.21037	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	370.98	39	chr19	54463304	.	G	A	370.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.300e-02;DP=817;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.27;ReadPosRankSum=1.35;SOR=0.752	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	20	0	1	0
chr19	54463480	54463480	G	A	exonic	LENG9	.	nonsynonymous SNV	LENG9:NM_001301782:exon1:c.C47T:p.T16M	.	.	421	1054	44	3	0	50	0.0231696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.991	D	0.301	B	0.044	U	1.000	N	0.69	N	1.5	T	-1.052	T	0.018	T	0.112	2.727	15.08	0.368	0.011	0.046	3.633	0.082	.	.	0.0071885	0.0667	0	0	0	.	0.125	0.1667	0.0619	0.0018305	283	154602	rs144782338	0.0074	0.0069	0.0072	0.0076	0.0358	0.0072	0.0072	0.0304	0.0284	0.0019	0.0071	0.0287	0.0015	0.0098	0.0358	0.0068	0.0096	0.0142	0.0060	0.0061	0.0058	0.0063	0.0153	0.0057	0.0056	0.0125	0.0115	0.0012	0	0.0105	0.0308	0.0014	0.0067	0.0377	0.0063	0.0081	0.0153	.	.	.	0.054	0.47097	T	.	.	.	.	.	.	0.043755	0.01924	U	3.158330	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.132	0.12770	-1.0515	0.13981	T	0.018	0.07282	T	10	0.0029560328	0.00048	T	.	.	.	.	.	.	.	.	.	0.2530297997198586	0.25216	.	.	0.756334781647	0.75384	T	0.012156	0.10734	T	-0.463156	0.00939	T	-0.423788	0.30643	T	0.0473489084509676	0.05028	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.32780	B	.	.	1.141636	0.15289	11.74	0.99015246300985382	0.50463	0.00856	0.03410	N	ALL	0.042906	0.06716	N	-0.802475667646566	0.13247	0.6512318	-0.979959058866059	0.10236	0.5142262	0.999999999956359	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	2.81	0.368	0.15378	0.092000	0.14905	.	.	-0.249000	0.07183	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1513:0.0:0.5955:0.2532	3.633	0.07681	982	0.03397	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.02381	596.98	29	chr19	54463480	.	G	A	596.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=623;ExcessHet=0.0000;FS=1.242;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.56;ReadPosRankSum=0.227;SOR=0.588	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,992	20	0	1	0
chr19	54465172	54465172	C	T	exonic	CDC42EP5	.	nonsynonymous SNV	CDC42EP5:NM_145057:exon3:c.G376A:p.G126R,	.	.	416	1098	8	0	0	8	0.00362976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.178	B	0.014	B	0.450	N	1.000	N	0.92	L	1.55	T	-1.027	T	0.031	T	0.152	2.383	13.93	1.86	0.560	-0.004	8.383	0.030	.	0.0038	0.00199681	0.0218	0.0065	0.0034	0.0024	0.0145	0.0348	0	0.0127	0.0030983	479	154602	rs10017	0.0067	0.0063	0.0066	0.0068	0.0076	0.0066	0.0065	0.0074	0.0074	0.0013	0.0018	0.0017	0.0002	0.0038	0.0030	0.0076	0.0046	0.0033	0.0048	0.0048	0.0048	0.0048	0.0078	0.0045	0.0044	0.0073	0.0071	0.0011	0.0395	0.0018	0.0009	0.0004	0.0054	0	0.0078	0.0043	0.0027	0.171	0.22746	T	0.397	0.15157	T	0.178	0.28960	B	0.014	0.16862	B	0.450446	0.12514	N	0.537116	1	0.08975	N	0.895	0.22405	L	1.55	0.29866	T	-0.99	0.26200	N	0.109	0.09490	-1.0272	0.21363	T	0.031	0.13374	T	10	0.0034463108	0.00061	T	.	.	.	0.030	0.07022	0.092	0.01108	0.296679040009	0.29266	0.1285259735343302	0.12777	1.02830112022	0.75345	0.689349770546	0.65613	T	0.020879	0.16359	T	-0.607722	0.00131	T	-0.634051	0.10108	T	0.0040330792534865	0.00043	T	.	.	.	0.042727932	0.06534	0.05883738	0.10942	0.042727932	0.06533	0.05883738	0.10941	-3.033	0.10541	T	.	.	0.102	0.18164	B	.	.	1.745182	0.22204	15.52	0.95941256769208927	0.28244	0.15801	0.19088	N	ALL	0.070652	0.14034	N	-0.946644691586346	0.09768	0.4637701	-1.00009656266121	0.09784	0.4887702	0.9999999999677	0.74766	0.489673	0.17934	0	0.166054	0.03914	2	0.64067	0.45733	0	0.662433	0.64102	0	.	.	2.97	1.86	0.24489	0.603000	0.23848	.	.	0.592000	0.32167	0.001000	0.13787	0.026000	0.21063	0.006000	0.07323	0.0:0.8737:0.0:0.1263	8.383	0.31642	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	769.98	35	chr19	54465172	.	C	T	769.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.350;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=-7.110e-01;SOR=0.671	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1020	20	0	1	0
chr19	54587233	54587233	G	A	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon6:c.G1252A:p.V418M	.	.	428	1086	8	0	0	8	0.00366972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.996	D	0.939	D	0.011	N	1.000	N	1.89	L	6.97	T	-0.901	T	0.005	T	0.348	1.548	11.13	1.69	1.526	-0.271	4.905	0.121	.	.	0.00998403	0.0052	0	0.0003	0.0001	0	2.997e-05	0	0.0377	0.0045989	711	154602	rs377042732	0.0021	0.0022	0.0012	0.0031	0.0337	0.0021	0.0020	0.0327	0.0323	8.961e-05	4.472e-05	0	5.038e-05	0	0.0007	2.068e-05	0.0029	0.0337	0.0013	0.0014	0.0009	0.0018	0.0395	0.0012	0.0011	0.0349	0.0332	9.63e-05	0	0	0	0.0004	0	0	4.411e-05	0.0014	0.0395	0.208	0.19782	T	0.2	0.27591	T	0.988	0.62325	D	0.808	0.58514	P	0.011403	0.01305	N	3.607130	1	0.18198	N	.	.	.	6.97	0.00494	T	-0.83	0.24460	N	0.205	0.27077	-0.9013	0.47857	T	0.005	0.01615	T	10	0.003334105	0.00058	T	.	.	.	0.121	0.33580	0.434	0.48500	0.361558571881	0.35766	0.09159311947339123	0.09092	0.072316980376	0.08112	.	.	.	0.010693	0.09633	T	-0.580136	0.00192	T	-0.579641	0.14576	T	0.0200827617830714	0.00709	T	0.833317	0.50212	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.28116	B	.;.;.;.;.	.;.;.;.;.	1.364680	0.17740	13.34	0.99239800419703561	0.56501	0.01327	0.04579	N	AEFBI	0.069972	0.13873	N	-0.27118351665017	0.30265	1.685982	-0.508387749701442	0.21925	1.188397	1.68489167529508E-4	0.05721	0.549168	0.22868	0	0.627178	0.54094	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.74	1.69	0.23290	-0.605000	0.05757	.	.	-0.147000	0.12262	0.000000	0.06391	0.000000	0.08366	0.123000	0.19290	0.1792:0.0:0.8208:0.0	4.905	0.13147	952	0.10565	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2668.98	33	chr19	54587233	.	G	A	2668.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.414;DP=946;ExcessHet=0.0000;FS=3.668;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=0.529;SOR=0.506	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1295	20	0	1	0
chr19	54594895	54594895	G	A	exonic	LILRA1	.	nonsynonymous SNV	LILRA1:NM_001278319:exon3:c.G301A:p.G101S	.	.	14	1505	3	0	0	3	0.000995685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.986	D	0.745	P	0.000	N	1.000	N	-0.22	N	5.92	T	-0.988	T	0.003	T	0.167	0.794	8.184	-3.16	-0.979	-7.095	2.108	0.091	.	.	0.00678914	0.0036	0	0.0003	0.0002	0	0	0	0.0259	0.0031565	488	154602	rs201715627	0.0015	0.0015	0.0009	0.0021	0.0237	0.0015	0.0014	0.0229	0.0225	2.987e-05	4.473e-05	0	0.0002	0	0.0007	1.799e-05	0.0020	0.0237	0.0010	0.0010	0.0007	0.0012	0.0265	0.0008	0.0008	0.0228	0.0214	0.0001	0	6.533e-05	0	0.0008	0	0	5.882e-05	0.0014	0.0265	0.393	0.10730	T	0.409	0.14588	T	0.093	0.61523	B	0.083	0.55870	B	0.000000	0.00162	N	8.473480	1	0.08975	N	-0.195	0.04202	N	5.92	0.00621	T	0.1	0.16799	N	0.1	0.08227	-0.9881	0.33077	T	0.003	0.00832	T	10	0.0028571486	0.00046	T	.	.	.	0.091	0.26358	.	.	0.0297737177859	0.01360	0.06064675443020376	0.06004	0.0258598480746	0.02640	0.232274666429	0.02141	T	1.63E-4	0.00025	T	-0.671528	0.00054	T	-0.717783	0.04904	T	0.0519666922231313	0.05841	T	.	.	.	0.088846505	0.20739	0.09042751	0.21204	0.088846505	0.20739	0.09042751	0.21203	-4.087	0.31856	T	.	.	0.104	0.21653	B	.;.	.;.	-0.900205	0.00925	0.035	0.86717309694172229	0.16725	0.00044	0.00357	N	AEFBI	0.033420	0.03961	N	-1.61299750278277	0.01201	0.05221125	-1.78236775774007	0.00817	0.03649151	0.999920003164853	0.46280	0.59774	0.34471	0	0.596491	0.49125	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.58	-3.16	0.04897	-3.387000	0.00542	.	.	-1.208000	0.01354	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3495:0.0:0.1803:0.4702	2.108	0.03472	946	0.12043	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3083.98	152	chr19	54594895	.	G	A	3083.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.12;DP=2929;ExcessHet=0.0000;FS=6.486;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.82;MQRankSum=1.64;QD=11.38;ReadPosRankSum=1.37;SOR=0.714	GT:AD:DP:GQ:PL	0/0:144,0:144:99:0,120,1800	20	0	1	0
chr19	54595129	54595129	C	A	exonic	LILRA1	.	nonsynonymous SNV	LILRA1:NM_001278319:exon4:c.C388A:p.L130I	.	.	2	1519	0	1	0	2	0.000657895	.	.	2197476	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.961	D	0.926	D	0.719	N	0.994	N	3.175	M	4.09	T	-1.064	T	0.037	T	0.151	2.150	13.15	-0.055	0.226	0.207	3.922	0.103	0.0022821819566	0.0002	.	5.775e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs370524319	0.0001	0.0001	0.0001	0.0001	0.0024	0.0001	0.0001	0.0015	0.0012	2.987e-05	0	0	0	0	0.0024	0.0001	0.0002	3.478e-05	5.256e-05	5.253e-05	7.706e-05	2.69e-05	0.0001	2.557e-05	1.83e-05	2.846e-05	1.858e-05	2.413e-05	0	0.0001	0	0	0	0	7.35e-05	0	0	0.003	0.68238	D	0.055	0.51112	T	0.961	0.55431	D	0.926	0.66095	D	0.719252	0.06304	N	1.190710	0.999995	0.42106	N	3.035	0.86516	M	4.09	0.02973	T	-1.84	0.43149	N	0.121	0.11197	-1.0642	0.10736	T	0.037	0.16073	T	10	0.09076586	0.15842	T	0.002282	0.04369	T	0.103	0.29403	.	.	0.310147130316	0.30628	0.01657012115728579	0.01612	0.181330689038	0.20389	0.344107449055	0.17051	T	0.003301	0.02708	T	-0.417526	0.01774	T	-0.589214	0.13734	T	0.125334037009565	0.14944	T	.	.	.	0.17373905	0.38138	0.15480886	0.36316	0.17373905	0.38138	0.15480886	0.36316	-9.197	0.69751	D	.	.	0.109	0.20896	B	.;.	.;.	2.327990	0.29821	18.24	0.98892854837983157	0.48037	0.04123	0.09600	N	AEFBI	0.072097	0.14377	N	-0.490144427628977	0.22403	1.196005	-0.769834031182154	0.15235	0.8002781	0.999580754719428	0.40607	0.582742	0.33608	0	0.541168	0.11318	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.24	-0.0549	0.13142	-0.070000	0.11483	.	.	-0.274000	0.06627	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.5827:0.0:0.4173	3.922	0.08748	946	0.12043	Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	5347.98	152	chr19	54595129	.	C	A	5347.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.371e+00;DP=3122;ExcessHet=0.0000;FS=2.728;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.44;ReadPosRankSum=-6.900e-01;SOR=0.838	GT:AD:DP:GQ:PL	0/0:144,0:144:99:0,120,1800	20	0	1	0
chr19	54596327	54596327	C	T	exonic	LILRA1	.	nonsynonymous SNV	LILRA1:NM_001278319:exon6:c.C1097T:p.P366L	.	.	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.25	B	0.35	B	0.126	N	1.000	N	0.99	L	3.83	T	-0.968	T	0.013	T	0.262	0.518	6.809	-3.24	-1.268	-0.465	0.665	0.034	0.00143591266325	.	0.000399361	7.413e-05	0	0	0	0	1.498e-05	0	0.0005	7.12e-05	11	154602	rs554043948	2.257e-05	2.257e-05	1.497e-05	3.025e-05	0.0003	1.61e-05	1.416e-05	0.0002	0.0002	0	2.236e-05	0	0	1.872e-05	0.0002	1.799e-06	4.967e-05	0.0003	3.285e-05	3.281e-05	1.285e-05	5.376e-05	0.0010	1.261e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.032	0.44694	D	0.048	0.48594	D	0.25	0.31189	B	0.35	0.42815	B	0.126013	0.02767	N	1.974330	1	0.08975	N	1.485	0.37223	L	3.83	0.03702	T	-7.4	0.94758	D	0.198	0.21839	-0.9684	0.37530	T	0.013	0.05081	T	10	0.035336643	0.01777	T	0.001436	0.02139	T	0.034	0.08419	0.464	0.53404	0.134241683229	0.13084	0.04199131306620813	0.04144	0.0697144865559	0.07804	0.29186630249	0.09194	T	0.007355	0.06771	T	-0.495442	0.00606	T	-0.644897	0.09315	T	0.157549326576416	0.17688	T	.	.	.	0.090210214	0.21101	0.09430834	0.22317	0.090210214	0.21101	0.09430834	0.22316	-6.314	0.48832	T	.	.	0.123	0.25850	B	.	.	-0.326753	0.02501	0.295	0.83458911366496524	0.14737	0.00934	0.03615	N	AEFDBI	0.066251	0.12965	N	-1.35253412737204	0.03099	0.1378836	-1.53996371092757	0.02045	0.0935204	0.234367325899888	0.18501	0.516011	0.20929	0	0.610034	0.51514	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.62	-3.24	0.04779	-2.998000	0.00718	.	.	-0.268000	0.06776	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3963:0.247:0.1972:0.1594	0.665	0.00795	946	0.12043	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	4901.98	37	chr19	54596327	.	C	T	4901.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.922;DP=1141;ExcessHet=0.0000;FS=1.661;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.97;MQRankSum=1.03;QD=12.83;ReadPosRankSum=1.74;SOR=0.779	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,101,1530	20	0	1	0
chr19	54633054	54633054	G	T	exonic	LILRB1	.	nonsynonymous SNV	LILRB1:NM_001081637:exon7:c.G997T:p.G333C	.	.	2	1507	13	0	0	13	0.00429468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.894	N	1.000	N	3.81	H	5.58	T	-1.034	T	0.019	T	0.415	1.828	12.07	1.18	1.265	1.783	4.194	0.058	0.000754452360511	0.0003	.	0.0007	9.73e-05	0.0002	0	0	0.0004	0.0033	0.0027	0.0005433	84	154602	rs201421803	0.0005	0.0005	0.0004	0.0006	0.0040	0.0005	0.0005	0.0027	0.0023	8.961e-05	0.0006	0	2.519e-05	1.872e-05	0.0040	0.0004	0.0005	0.0027	0.0007	0.0007	0.0005	0.0009	0.0037	0.0006	0.0005	0.0030	0.0027	0.0001	0.0033	0.0037	0	0	0	0	0.0005	0.0005	0.0012	0.0	0.91255	D	0.011	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.893986	0.08667	N	0.933281	1	0.08975	N	.	.	.	5.58	0.00843	T	-7.58	0.95870	D	0.442	0.48411	-1.0336	0.19300	T	0.019	0.07986	T	10	0.025782019	0.00762	T	7.54E-4	0.00529	T	0.058	0.16647	.	.	0.463501289208	0.45975	0.15152415192943347	0.15074	0.252073141098	0.27777	0.293592244387	0.09449	T	0.226595	0.61541	T	-0.402603	0.02226	T	-0.356325	0.38478	T	0.234461294977076	0.22162	T	0.951105	0.81505	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.57902	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.155708	0.42741	21.6	0.9933185621305658	0.59816	0.08500	0.14421	N	AEFDBHCI	0.142195	0.26458	N	0.040124680716319	0.43691	2.656981	-0.298823998733835	0.28137	1.566471	0.970344918282449	0.29200	0.722319	0.85440	0	0.698795	0.70079	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	2.25	1.18	0.20058	1.638000	0.36780	.	.	0.522000	0.23927	0.881000	0.31008	0.000000	0.08366	0.002000	0.04165	0.2135:0.0:0.7865:0.0	4.194	0.09892	809	0.43032	Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2487.98	235	chr19	54633054	.	G	T	2487.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.491e+00;DP=5175;ExcessHet=0.0000;FS=1.972;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.60;MQRankSum=5.49;QD=7.87;ReadPosRankSum=1.05;SOR=0.581	GT:AD:DP:GQ:PL	0/0:275,0:275:99:0,120,1800	20	0	1	0
chr19	54633108	54633108	T	C	exonic	LILRB1	.	nonsynonymous SNV	LILRB1:NM_001081637:exon7:c.T1051C:p.W351R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.005	B	0.000	N	1.000	N	0.64	N	4.11	T	-0.937	T	0.006	T	0.074	-0.437	1.968	-4.16	-1.178	-4.299	2.666	0.016	0.000983764574232	.	.	3.295e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs765206177	1.262e-05	1.321e-05	1.117e-05	1.408e-05	0.0002	7.89e-06	6.51e-06	0.0001	8.812e-05	3.147e-05	0	0	0	0	0	0	3.399e-05	0.0002	2.098e-05	2.088e-05	2.735e-05	1.431e-05	0.0007	5.58e-06	2.55e-06	0.0002	9.61e-05	0	0	0	0	0	0	0	0	0	0.0007	0.426	0.09746	T	0.473	0.12281	T	0.0	0.02946	B	0.002	0.06944	B	0.000057	0.00387	N	14.826600	1	0.08975	N	.	.	.	4.11	0.02916	T	-1.47	0.45042	N	0.058	0.03175	-0.9373	0.43041	T	0.006	0.02168	T	10	0.032902986	0.01452	T	9.84E-4	0.01026	T	0.016	0.02506	0.42	0.46200	0.355658859761	0.35178	0.06504777047916012	0.06443	0.0951957454739	0.10748	0.260372936726	0.04935	T	0.003953	0.03423	T	-0.602758	0.00140	T	-0.799049	0.01926	T	0.0297089204965355	0.01945	T	0.0123321	0.00111	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.48827	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.464652	0.01982	0.173	0.27383360219759167	0.01357	0.00158	0.00946	N	AEFDBHCI	0.036166	0.04774	N	-2.07763132330582	0.00143	0.006134361	-2.16231796484525	0.00136	0.005972342	0.998419139002024	0.36924	0.645754	0.44609	0	0.696144	0.67643	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	2.25	-4.16	0.03606	-3.674000	0.00445	.	.	-1.333000	0.01212	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3566:0.2413:0.0:0.4021	2.666	0.04739	809	0.43032	Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	75915.23	337	chr19	54633108	.	T	G,C	75915.23	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=1.38;DP=7609;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.452,0.024;MQ=57.07;MQRankSum=-1.416e+01;QD=10.13;ReadPosRankSum=3.92;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:314,113,0:427:99:0|1:54633108_T_G:3800,0,12602,4745,12942,17687:54633108	1	0	19	0
chr19	54636844	54636844	T	A	exonic	LILRB1	.	nonsynonymous SNV	LILRB1:NM_001278398:exon14:c.T1871A:p.V624E	.	.	12	1457	53	0	0	53	0.0178632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	.	.	1.000	N	-2.63	N	7.72	T	-0.927	T	0.000	T	0.18	-2.393	0.003	-0.185	-0.103	0.395	1.912	0.047	.	.	0.0373403	0.0174	0.0731	0.0047	0.0042	0	0.0022	0.0099	0.0666	0.001229	190	154602	rs200208553	0.0029	0.0066	0.0022	0.0036	0.0311	0.0028	0.0028	0.0301	0.0297	0.0206	0.0027	3.835e-05	0.0010	5.617e-05	0.0062	0.0006	0.0042	0.0311	0.0005	0.0037	0.0004	0.0006	0.0079	0.0004	0.0004	0.0059	0.0052	0.0005	0	0.0001	0	0.0010	0	0	0.0002	0	0.0079	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	7.72	0.00354	T	2.75	0.00255	N	0.101	0.14196	-0.9267	0.44616	T	0.000	0.00039	T	9	0.0038897693	0.00074	T	.	.	.	0.047	0.12962	.	.	.	.	0.01539496993135938	0.01495	0.0875308799902	0.09869	0.356790602207	0.18917	T	0.002021	0.02217	T	-0.666268	0.00058	T	-0.700548	0.05796	T	0.00808306671237689	0.00096	T	0.421758	0.11220	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00112	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.101727	0.03631	0.720	0.43902963067046641	0.03338	0.00018	0.00208	N	AEFDBI	0.043169	0.06790	N	-2.03654416394117	0.00176	0.007556117	-1.94011838139244	0.00407	0.01799656	6.62834000225161E-4	0.07575	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.1	-0.185	0.12624	0.236000	0.17745	.	.	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.5571:0.0:0.1723:0.2706	1.912	0.03089	814	0.42100	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	315.98	33	chr19	54636844	.	T	A	315.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.912;DP=933;ExcessHet=0.0000;FS=2.709;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.45;MQRankSum=-9.983e+00;QD=1.85;ReadPosRankSum=-1.489e+00;SOR=0.604	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1143	20	0	1	0
chr19	54667735	54667735	G	A	exonic	LILRB4	.	nonsynonymous SNV	LILRB4:NM_001278429:exon10:c.G1232A:p.G411E	.	.	42	1368	112	0	0	112	0.0393258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.002	B	0.001	B	.	.	1.000	N	0.345	N	7.23	T	-1.031	T	0.001	T	0.264	-1.151	0.102	-2.07	-0.416	-1.874	7.181	0.017	.	.	0.00938498	0.0029	0.0131	0.0016	0.0003	0.0008	0.0027	0	0.0008	0.0018057	47	26028	rs143761941	0.0002	0.0077	0.0002	0.0002	0.0019	0.0002	0.0002	0.0015	0.0014	0.0019	6.756e-05	3.887e-05	0	0.0019	0.0005	7.91e-05	6.767e-05	9.397e-05	0.0011	0.0063	0.0009	0.0013	0.0023	0.0009	0.0009	0.0019	0.0018	0.0023	0	0.0007	0.0006	0	0.0008	0	0.0006	0.0020	0.0006	0.817	0.08534	T	0.485	0.14284	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	7.22	0.00450	T	-1.14	0.33197	N	0.082	0.06587	-1.0309	0.20163	T	0.001	0.00222	T	9	0.0048834085	0.00104	T	.	.	.	0.017	0.02790	.	.	0.0611884634855	0.05136	0.025520150562575675	0.02503	0.0146181732997	0.01385	0.27307882905	0.06546	T	0.024122	0.18284	T	-0.312001	0.07572	T	-0.685945	0.06627	T	0.00416992427023374	0.00044	T	0.40156	0.13085	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.02548	B	.;.;.;.	.;.;.;.	-1.426860	0.00341	0.006	0.34032084928210377	0.02060	0.00201	0.01154	N	AEFBI	0.057374	0.10682	N	-1.73416465629474	0.00727	0.0314143	-1.78646037534142	0.00803	0.03586342	6.83957052779704E-4	0.07622	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.36	-2.07	0.06873	-2.169000	0.01355	.	.	-2.327000	0.00315	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2899:0.0:0.7101:0.0	7.181	0.24951	814	0.42100	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	116.98	34	chr19	54667735	.	G	A	116.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.960e+00;DP=1419;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.27;MQRankSum=-1.020e+01;QD=1.03;ReadPosRankSum=0.093;SOR=0.754	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:68,0:68:99:.:.:0,120,1800	20	0	1	0
chr19	54739533	54739533	C	A	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon2:c.C61A:p.P21T	.	.	407	439	674	2	0	678	0.435733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	N	2.195	M	7.25	T	-0.797	T	0.003	T	0.159	-2.076	0.006	-0.836	-3.588	-0.374	0.314	0.067	0.000629482271791	.	.	1.26e-05	0	0	0	0	0	0	0.0002	0.0001153	3	26028	rs143258060	0.0001	0.0014	0.0001	0.0001	0.0003	0.0001	9.739e-05	0.0002	0.0002	0	0.0002	0	7.578e-05	0.0015	0.0002	4.598e-05	8.31e-05	0.0003	0.0003	0.0064	0.0002	0.0005	0.0007	0.0002	0.0002	0.0004	0.0003	9.821e-05	0	0.0007	0	0.0002	0.0010	0	0.0003	0	0.0004	0.0	0.91255	D	0.05	0.48080	T	0.039	0.21116	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.675	0.43121	L	7.25	0.00428	T	-2.83	0.59710	D	0.057	0.02861	-0.7967	0.55338	T	0.003	0.00929	T	9	0.04721421	0.04010	T	6.29E-4	0.00319	T	0.067	0.19503	0.275	0.22687	0.333906830038	0.33007	0.11003837353837338	0.10932	3.22852605899	0.99523	.	.	.	0.024485	0.18493	T	-0.40546	0.02131	T	-0.633654	0.10139	T	0.262085987067051	0.23406	T	.	.	.	0.08533072	0.19789	0.12122417	0.29249	0.08533072	0.19789	0.12122417	0.29248	-6.294	0.48674	T	.	.	0.091	0.13268	B	.	.	-0.337065	0.02459	0.283	0.40733743298301972	0.02894	0.00183	0.01069	N	AEFDGBI	0.020550	0.00823	N	-1.61360564278005	0.01198	0.05208234	-1.880969786367	0.00533	0.02366577	0.225960784001686	0.18410	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.418	-0.836	0.10225	-1.270000	0.02939	.	.	-4.224000	0.00037	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3954:0.2043:0.1975:0.2028	0.314	0.00272	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	11817.48	33	chr19	54739533	.	C	A	11817.48	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-1.378e+00;DP=7438;ExcessHet=20.9642;FS=1.551;InbreedingCoeff=-0.6399;MLEAC=16;MLEAF=0.400;MQ=55.59;MQRankSum=1.01;QD=1.92;ReadPosRankSum=1.26;SOR=0.542	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1330	4	0	16	1
chr19	54741980	54741980	G	A	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon3:c.G71A:p.G24E	.	.	418	1098	6	0	0	6	0.0027248	0.4003	0.432	2213723	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.998	D	0.996	D	.	.	1.000	N	2.89	M	7.02	T	-0.967	T	0.005	T	0.203	1.836	12.10	1.6	1.216	1.322	6.677	0.020	0.000573416954577	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1375705580	0.0005	0.0006	0.0006	0.0005	0.0091	0.0005	0.0005	0.0069	0.0061	0.0005	0.0010	0.0045	0	0.0002	0.0091	0.0004	0.0010	0.0008	0.0005	0.0006	0.0006	0.0005	0.0012	0.0005	0.0004	0.0008	0.0007	0.0002	0	0.0012	0.0040	0	0.0002	0.0034	0.0005	0.0024	0.0008	0.0	0.91255	D	0.001	0.83351	D	0.996	0.68779	D	0.983	0.75793	D	.	.	.	.	1	0.18198	N	2.41	0.69639	M	7.02	0.00454	T	-5.77	0.87911	D	0.307	0.34659	-0.9666	0.37894	T	0.005	0.01797	T	8	0.2391968	0.41055	T	5.73E-4	0.00233	T	0.020	0.03691	0.667	0.80502	0.431150418975	0.42736	0.14250178328010782	0.14173	3.52078213034	0.99770	.	.	.	0.164682	0.51023	T	-0.220675	0.17900	T	-0.554761	0.16871	T	0.946605205535889	0.62505	D	.	.	.	0.22370853	0.44997	0.23914103	0.49255	0.22370853	0.44997	0.23914103	0.49254	-6.592	0.50992	T	.	.	0.173	0.37969	B	.	.	3.126224	0.42227	21.5	0.98563140753015865	0.42999	0.01140	0.04135	N	AEFI	0.067249	0.13211	N	-0.1236570737967	0.36363	2.100928	-0.445028722266669	0.23691	1.293249	5.77689045962818E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.6	1.6	0.22686	2.316000	0.43421	.	.	0.339000	0.19733	0.245000	0.24799	0.976000	0.30059	0.002000	0.04165	0.0:0.0:1.0:0.0	6.677	0.22289	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2320.98	33	chr19	54741980	.	G	A	2320.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.885;DP=3023;ExcessHet=0.0000;FS=0.563;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=38.94;MQRankSum=3.16;QD=10.50;ReadPosRankSum=-2.006e+00;SOR=0.782	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1206	20	0	1	0
chr19	54741995	54741995	C	G	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon3:c.C86G:p.P29R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	1.000	N	3.265	M	5.21	T	-0.991	T	0.181	T	0.521	1.640	11.44	1.6	1.216	0.359	6.677	0.042	0.000828170615736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.374e-06	0.0001	1.367e-06	1.38e-06	1.162e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.026e-07	0	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	1	0.19238	N	3.2	0.89116	M	1.68	0.27184	T	-6.87	0.93175	D	0.611	0.62781	-0.9911	0.32321	T	0.181	0.52858	T	9	0.72211933	0.73732	D	8.28E-4	0.00691	T	0.042	0.11227	0.482	0.56302	0.519675384768	0.51611	0.4145345915027815	0.41369	3.14057088863	0.99419	.	.	.	0.394193	0.75340	T	-0.0852527	0.38857	T	-0.360236	0.38026	T	0.899505424961632	0.55182	D	.	.	.	0.5138579	0.67905	0.30031213	0.56065	0.5138579	0.67906	0.30031213	0.56064	-10.534	0.77042	D	.	.	0.704	0.73124	P	.	.	2.246951	0.28697	17.88	0.99426336285439565	0.64032	0.02155	0.06334	N	AEFI	0.033680	0.04042	N	-0.0862229983803219	0.37997	2.218774	-0.416222882557366	0.24521	1.343211	5.77689045962818E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.6	1.6	0.22686	0.742000	0.25884	.	.	0.303000	0.18983	0.005000	0.17040	0.001000	0.17328	0.014000	0.10232	0.0:1.0:0.0:0.0	6.677	0.22289	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	109.78	144	chr19	54741995	.	C	G	109.78	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-3.125e+00;DP=3541;ExcessHet=0.0000;FS=64.064;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=43.22;MQRankSum=-8.830e-01;QD=0.81;ReadPosRankSum=2.31;SOR=6.203	GT:AD:DP:GQ:PL	0/0:143,6:162:74:0,74,5589	19	0	1	1
chr19	54742019	54742019	C	T	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon3:c.C110T:p.P37L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.181	B	0.069	B	.	.	1.000	N	2.52	M	5.76	T	-1.016	T	0.017	T	0.347	0.259	5.400	0.507	0.253	1.801	5.886	0.076	0.00102173653182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.394e-07	7.092e-07	0	1.485e-06	2.396e-05	0	0	.	.	0	2.396e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.01	0.65728	D	0.181	0.29111	B	0.041	0.23986	B	.	.	.	.	1	0.08975	N	2.56	0.74772	M	3.95	0.03382	T	-6.54	0.91786	D	0.223	0.25006	-1.0164	0.24884	T	0.017	0.06807	T	9	0.12389034	0.23525	T	0.001022	0.01120	T	0.076	0.22200	0.37	0.38013	0.335164054921	0.33125	0.19209035572317168	0.19127	1.791941562	0.91524	.	.	.	0.020233	0.15966	T	-0.175002	0.24481	T	-0.489154	0.23479	T	0.20912588440861	0.20907	T	.	.	.	0.17275815	0.37985	0.1681736	0.38757	0.17275815	0.37985	0.1681736	0.38756	-8.822	0.66544	D	.	.	0.125	0.26514	B	.	.	1.590162	0.20337	14.70	0.57320471306848364	0.05743	0.01560	0.05104	N	AEFI	0.030433	0.03063	N	-1.06537834965913	0.07289	0.338164	-1.21954413589658	0.05596	0.2670848	1.74798417143001E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.6	0.507	0.16168	1.859000	0.39058	.	.	0.303000	0.18983	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	0.0:0.6648:0.3352:0.0	5.886	0.18127	964	0.07719	Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	38391.65	39	chr19	54742019	.	C	G,T	38391.65	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=-4.248e+00;DP=5023;ExcessHet=10.5502;FS=2.011;InbreedingCoeff=-0.4135;MLEAC=15,1;MLEAF=0.357,0.024;MQ=49.81;MQRankSum=0.016;QD=8.38;ReadPosRankSum=0.547;SOR=0.509	GT:AD:DP:GQ:PL	0/0:41,0,0:41:99:0,99,1485,99,1485,1485	6	0	14	0
chr19	54752248	54752248	A	G	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon7:c.A853G:p.N285D,	.	.	472	988	53	9	0	71	0.0346849	.	.	2344988	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-0.57	N	7.23	T	-0.979	T	0.000	T	0.048	-2.063	0.006	0.909	-0.027	-0.432	3.427	0.023	0.000468388808781	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs796591477	3.719e-06	8.145e-05	2.959e-06	4.488e-06	3.319e-05	1.09e-06	7.9e-07	4.37e-06	1.64e-06	3.319e-05	0	0	0	0	0	1.955e-06	0	2.636e-05	0	2.062e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.681	0.04417	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.885	0.01428	N	7.23	0.00430	T	1.41	0.00825	N	0.067	0.03956	-0.9794	0.35139	T	0.000	0.00152	T	9	0.046813875	0.03919	T	4.68E-4	0.00124	T	0.023	0.04649	0.254	0.19378	0.141422826196	0.13715	0.021484480057930886	0.02101	0.102646631919	0.11614	.	.	.	0.00138	0.00849	T	-0.424676	0.01598	T	-0.847794	0.00988	T	0.0696372147959041	0.08599	T	.	.	.	0.038748864	0.05221	0.03373727	0.02318	0.038748864	0.05221	0.03373727	0.02318	0.058	0.00329	T	.	.	0.059	0.00834	B	.	.	-0.515056	0.01820	0.143	0.70665495962579383	0.09370	0.00004	0.00092	N	AEFI	0.012143	0.00125	N	-1.67441242710064	0.00936	0.04055573	-1.68607278265976	0.01200	0.0540247	1.80848887901061E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	0.909	0.18460	-0.102000	0.10926	.	.	-0.344000	0.05652	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2968:0.0:0.7032:0.0	3.427	0.06984	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	32.04	34	chr19	54752248	.	A	G	32.04	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.10;DP=847;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0287;MLEAC=1;MLEAF=0.024;MQ=46.58;MQRankSum=-2.100e+00;QD=4.01;ReadPosRankSum=-2.100e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,109,1568	20	0	1	0
chr19	54752378	54752378	A	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.A885T:p.E295D,	.	.	438	644	313	127	0	567	0.30566	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.927	P	0.953	D	.	.	1.000	N	1.66	L	7.17	T	-0.907	T	0.003	T	0.251	0.161	4.868	-1.94	-0.713	0.615	4.008	0.053	0.000595427967978	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs76449138	0.0004	0.0045	0.0003	0.0006	0.0014	0.0004	0.0004	0.0012	0.0011	0.0009	0.0007	0.0004	0.0002	0.0006	0	0.0003	0.0006	0.0014	0.0004	0.0045	0.0004	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	0.0008	0	0.0004	0.0003	0	0.0003	0	0.0002	0	0.0006	0.017	0.51248	D	0.362	0.16865	T	0.009	0.15093	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	1.605	0.40863	L	7.17	0.00438	T	-1.3	0.32590	N	0.03	0.00717	-0.9072	0.47191	T	0.003	0.00800	T	9	0.06407854	0.08444	T	5.95E-4	0.00260	T	0.053	0.14996	0.345	0.33950	0.315609569513	0.31162	0.055351736594923893	0.05476	0.156621518827	0.17680	.	.	.	0.006609	0.06037	T	-0.243919	0.14853	T	-0.588149	0.13826	T	0.1719860881567	0.18714	T	.	.	.	0.072928816	0.16260	0.055293426	0.09672	0.072928816	0.16260	0.055293426	0.09672	-5.957	0.45918	T	.	.	0.102	0.17785	B	.	.	0.393611	0.07651	4.319	0.83992659330197972	0.15036	0.00398	0.01994	N	AEFI	0.034546	0.04300	N	-1.14210111889885	0.05910	0.2707387	-1.35039455156555	0.03801	0.1780508	3.36295698448585E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-1.94	0.07158	0.608000	0.23921	.	.	0.538000	0.25075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3959:0.0:0.0:0.6041	4.008	0.09100	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	21150.31	340	chr19	54752378	.	A	T	21150.31	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-3.320e+00;DP=5262;ExcessHet=5.2939;FS=0.000;InbreedingCoeff=-0.2512;MLEAC=17;MLEAF=0.425;MQ=55.87;MQRankSum=-1.639e+01;QD=5.39;ReadPosRankSum=2.32;SOR=0.699	GT:AD:DP:GQ:PL	0/0:450,0:450:99:0,120,1800	6	2	12	1
chr19	54752434	54752434	G	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G941C:p.R314T,	.	.	440	676	290	116	0	522	0.278549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.137	B	0.073	B	.	.	1.000	N	1.885	L	7.21	T	-0.958	T	0.001	T	0.079	-0.731	0.875	-2.12	-2.428	-1.068	4.380	0.018	0.000504783109797	.	.	9.107e-06	0	0	0	0	1.648e-05	0	0	0	0	26028	rs369659451	0.0001	0.0011	8.786e-05	0.0001	0.0006	0.0001	9.738e-05	0.0005	0.0004	0.0003	0.0001	0	0	0.0002	0.0002	8.061e-05	0.0001	0.0006	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.336	0.18232	T	0.038	0.21002	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	2.005	0.54552	M	7.21	0.00433	T	-1.76	0.41618	N	0.15	0.15328	-0.9578	0.39589	T	0.001	0.00438	T	9	0.055743694	0.06139	T	5.05E-4	0.00153	T	0.018	0.03083	0.358	0.36060	0.197625483188	0.19356	0.07934385317345088	0.07869	0.381999604534	0.39540	.	.	.	0.008653	0.07927	T	-0.372433	0.03472	T	-0.772751	0.02679	T	0.0711279924993857	0.08808	T	.	.	.	0.058790613	0.11869	0.056505527	0.10109	0.058790613	0.11869	0.056505527	0.10109	-8.83	0.66596	D	.	.	0.103	0.18456	B	.	.	-0.693291	0.01336	0.074	0.50922294396745071	0.04470	0.00271	0.01473	N	AEFI	0.037209	0.05083	N	-1.83575514742651	0.00463	0.01994319	-2.00237195100838	0.00303	0.01337074	0.00114747052574219	0.08272	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-2.12	0.06766	-2.589000	0.00974	.	.	-2.077000	0.00405	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2846:0.2349:0.4805:0.0	4.380	0.10722	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	28617.15	340	chr19	54752434	.	G	C	28617.15	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-1.210e+00;DP=6144;ExcessHet=5.2939;FS=7.479;InbreedingCoeff=-0.2500;MLEAC=17;MLEAF=0.425;MQ=56.79;MQRankSum=-1.832e+01;QD=6.00;ReadPosRankSum=1.58;SOR=1.014	GT:AD:DP:GQ:PL	0/0:450,0:450:99:0,120,1800	6	2	12	1
chr19	54752445	54752445	C	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.C952T:p.R318C,	.	.	444	649	317	112	0	541	0.294182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.006	B	0.003	B	.	.	1.000	N	1.1	L	7.14	T	-0.946	T	0.001	T	0.168	-0.325	2.456	-1.82	-2.219	0.300	4.091	0.046	0.000730226801608	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372921221	7.35e-05	0.0008	5.213e-05	9.518e-05	0.0004	6.171e-05	5.67e-05	0.0003	0.0002	0.0004	0.0001	4.416e-05	2.548e-05	0.0001	0	4.228e-05	3.658e-05	0.0004	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.101	0.38596	T	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.14	0.00441	T	-1.73	0.41046	N	0.081	0.05670	-0.9462	0.41615	T	0.001	0.00318	T	9	0.07376027	0.11187	T	7.3E-4	0.00491	T	0.046	0.12618	.	.	0.190952846119	0.18690	0.08507494458604588	0.08441	0.272347824251	0.29747	.	.	.	0.006919	0.06344	T	-0.301136	0.08553	T	-0.670337	0.07586	T	0.0816786993696317	0.10202	T	.	.	.	0.06286794	0.13178	0.048082765	0.07066	0.06286794	0.13177	0.048082765	0.07066	-8.692	0.65693	D	.	.	0.085	0.10159	B	.	.	0.663279	0.10314	7.048	0.77161828724750081	0.11761	0.00606	0.02697	N	AEFI	0.056180	0.10365	N	-1.90787109037655	0.00331	0.01420744	-2.03030551184277	0.00264	0.01165071	5.65618134037242E-5	0.04171	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-0.238000	0.08995	.	.	-1.505000	0.01024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2329:0.4799:0.2873:0.0	4.091	0.09446	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	33791.15	340	chr19	54752445	.	C	T	33791.15	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-2.020e-01;DP=6238;ExcessHet=5.2939;FS=10.711;InbreedingCoeff=-0.2500;MLEAC=17;MLEAF=0.425;MQ=56.95;MQRankSum=-1.853e+01;QD=6.90;ReadPosRankSum=-2.400e-01;SOR=1.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:450,0:450:99:.:.:0,120,1800	6	2	12	1
chr19	54752485	54752485	T	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.T992C:p.I331T,	.	.	458	776	181	107	0	395	0.202876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.001	B	0.004	B	.	.	1.000	N	0.74	N	7.07	T	-0.942	T	0.001	T	0.034	-1.003	0.256	-0.268	-0.552	-0.743	3.096	0.014	0.000598353408358	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781524573	5.305e-06	0.0001	4.511e-06	6.112e-06	2.86e-05	2.21e-06	1.42e-06	4.75e-06	1.78e-06	0	0	0	0	5.995e-05	0	1.979e-06	0	2.86e-05	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.744	0.03653	T	0.196	0.27943	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.075	0.27130	L	7.07	0.00449	T	1.38	0.00857	N	0.023	0.00407	-0.9420	0.42298	T	0.001	0.00318	T	9	0.04724872	0.04019	T	5.98E-4	0.00274	T	0.014	0.01968	0.471	0.54537	0.15556083564	0.15200	0.03272981040342714	0.03220	0.11650274929	0.13144	.	.	.	0.002103	0.01509	T	-0.435909	0.01367	T	-0.863929	0.00802	T	0.0462318255409502	0.04826	T	.	.	.	0.029743398	0.02519	0.04760247	0.06891	0.029743398	0.02518	0.04760247	0.06890	-0.729	0.00744	T	.	.	0.056	0.00487	B	.	.	-0.452449	0.02024	0.181	0.28219194255820729	0.01438	0.00196	0.01131	N	AEFI	0.020637	0.00835	N	-1.78857713604755	0.00574	0.02471146	-1.87148925175353	0.00557	0.02469536	2.05976653641204E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-0.268	0.12295	-0.692000	0.05228	.	.	-3.068000	0.00129	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3083:0.394:0.2977	3.096	0.05931	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.375	17127.06	73	chr19	54752485	.	T	C	17127.06	.	AC=15;AF=0.375;AN=40;BaseQRankSum=1.81;DP=4524;ExcessHet=3.6553;FS=28.218;InbreedingCoeff=-0.1733;MLEAC=16;MLEAF=0.400;MQ=57.11;MQRankSum=-1.853e+01;QD=4.19;ReadPosRankSum=-2.676e+00;SOR=2.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:87,0:87:99:.:.:0,120,1800	7	2	11	1
chr19	54752511	54752511	G	A	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G1018A:p.E340K,	.	.	471	887	74	90	0	254	0.125247	.	.	2330855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.927	P	0.801	P	.	.	1.000	N	1.7	L	7.23	T	-0.964	T	0.002	T	0.108	-0.217	2.948	-1.82	-2.079	-1.122	6.337	0.023	0.00058277682123	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878939548	6.015e-06	0.0002	4.476e-06	7.577e-06	2.785e-05	2.59e-06	1.87e-06	4.62e-06	1.73e-06	0	0	0	0	3.975e-05	0	3.938e-06	0	2.785e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.169	0.22920	T	0.141	0.33442	T	0.014	0.16867	B	0.053	0.25678	B	.	.	.	.	1	0.08975	N	1.56	0.39490	L	7.23	0.00430	T	-1.59	0.38345	N	0.036	0.01068	-0.9636	0.38488	T	0.002	0.00707	T	9	0.048668027	0.04349	T	5.83E-4	0.00246	T	0.023	0.04649	0.359	0.36222	0.201204373187	0.19734	0.14158577538071196	0.14081	0.485544564949	0.47430	.	.	.	0.006937	0.06364	T	-0.364647	0.03874	T	-0.761566	0.03056	T	0.472253292798996	0.31613	T	.	.	.	0.035863034	0.04304	0.048440736	0.07194	0.035863034	0.04303	0.048440736	0.07193	-4.19	0.26607	T	.	.	0.087	0.11317	B	.	.	-0.236831	0.02908	0.420	0.60687808817287325	0.06524	0.00049	0.00384	N	AEFI	0.023028	0.01229	N	-1.55887154151576	0.01484	0.06475221	-1.76960007506711	0.00862	0.03850489	6.95773214814763E-5	0.04366	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-1.609000	0.02169	.	.	-1.067000	0.01603	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5547:0.0:0.4453:0.0	6.337	0.20509	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.275	5860.81	73	chr19	54752511	.	G	A	5860.81	.	AC=11;AF=0.275;AN=40;BaseQRankSum=4.75;DP=3070;ExcessHet=0.4926;FS=36.779;InbreedingCoeff=0.1222;MLEAC=11;MLEAF=0.275;MQ=57.65;MQRankSum=-1.666e+01;QD=2.73;ReadPosRankSum=-1.190e-01;SOR=4.105	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:87,0:87:99:.:.:0,120,1800	11	2	7	1
chr19	54758607	54758607	G	C	splicing	LOC112267881	NM_001368251:exon3:c.71-1G>C	.	.	.	.	431	1048	34	9	0	52	0.0242086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00419329	.	.	.	.	.	.	.	.	0.000401	62	154602	rs200443054	0.0058	0.0060	0.0052	0.0065	0.0206	0.0057	0.0057	0.0198	0.0194	0.0006	0.0021	0.0011	0	0.0009	0.0173	0.0055	0.0070	0.0206	0.0036	0.0036	0.0035	0.0037	0.0187	0.0033	0.0032	0.0155	0.0144	0.0007	0	0.0029	0.0009	0.0006	0.0005	0.0174	0.0051	0.0069	0.0187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4370.11	36	chr19	54758607	.	G	C	4370.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.160e-01;DP=2026;ExcessHet=0.1072;FS=5.707;InbreedingCoeff=-0.0501;MLEAC=2;MLEAF=0.048;MQ=38.04;MQRankSum=5.86;QD=18.44;ReadPosRankSum=-6.100e-02;SOR=1.069	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:66,0:66:99:.:.:0,120,1800	19	0	2	0
chr19	54758623	54758623	-	GGGGG	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	33.68	142	chr19	54758623	.	C	CGGGGG	33.68	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.295e+00;DP=2275;ExcessHet=0.0000;FS=60.621;InbreedingCoeff=-0.0505;MLEAC=1;MLEAF=0.026;MQ=42.69;MQRankSum=-8.300e-02;QD=0.34;ReadPosRankSum=1.26;SOR=7.947	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:66,0:66:99:.:.:0,120,1800	18	0	1	2
chr19	54760437	54760437	T	C	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	404	1115	3	0	0	3	0.00134348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	.	.	.	.	.	.	.	.	1.94e-05	3	154602	rs557379946	0.0002	0.0002	0.0001	0.0002	0.0016	0.0001	0.0001	0.0014	0.0013	0	2.387e-05	0.0011	0	0	0.0003	4.427e-05	0.0003	0.0016	8.745e-05	0.0001	5.261e-05	0.0001	0.0019	5.17e-05	4.05e-05	0.0010	0.0007	0	0	0	0.0003	0	0	0	4.512e-05	0	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2572.98	37	chr19	54760437	.	T	C	2572.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.81;DP=5193;ExcessHet=0.0000;FS=0.595;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.11;MQRankSum=4.47;QD=5.35;ReadPosRankSum=-4.940e-01;SOR=0.790	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr19	54760643	54760643	A	G	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	418	697	407	0	0	407	0.225986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259531898	0.0011	0.0091	0.0010	0.0012	0.0039	0.0011	0.0010	0.0035	0.0034	0.0015	0.0031	0.0054	0.0008	0.0008	0.0022	0.0007	0.0013	0.0039	0.0012	0.0099	0.0011	0.0014	0.0034	0.0011	0.0010	0.0020	0.0016	0.0020	0	0.0023	0.0020	0.0008	0.0010	0.0036	0.0005	0.0010	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3095	10320.24	37	chr19	54760643	.	A	G	10320.24	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-3.066e+00;DP=4116;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4489;MLEAC=13;MLEAF=0.310;MQ=53.53;MQRankSum=-6.940e+00;QD=3.09;ReadPosRankSum=-1.857e+00;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,102,1530	8	0	13	0
chr19	54760651	54760651	G	C	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	415	680	427	0	0	427	0.238948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341664073	1.26e-05	0.0001	6.969e-06	1.828e-05	0.0002	7.87e-06	6.5e-06	7.234e-05	5.562e-05	0.0002	2.285e-05	0	0	0	0	9.212e-07	0	0.0001	2.732e-05	0.0006	1.334e-05	4.198e-05	0.0001	8.38e-06	5.3e-06	3.332e-05	1.97e-05	0.0001	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3095	11917.16	37	chr19	54760651	.	G	C	11917.16	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-3.207e+00;DP=4125;ExcessHet=11.8493;FS=0.785;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=54.02;MQRankSum=-7.539e+00;QD=3.52;ReadPosRankSum=-5.850e-01;SOR=0.589	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,102,1530	8	0	13	0
chr19	54760659	54760659	G	A	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	417	909	196	0	0	196	0.0973188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs57865271	1.259e-05	2.057e-05	1.532e-05	9.832e-06	3.033e-05	7.87e-06	6.49e-06	3.9e-06	2.82e-06	3.033e-05	2.283e-05	0	0	0	0	8.284e-06	0.0001	1.176e-05	4.775e-05	8.644e-05	3.992e-05	5.599e-05	0.0003	2.182e-05	1.574e-05	9.529e-05	5.69e-05	2.488e-05	0	0.0003	0	0	0	0	3.045e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.119	5323.44	37	chr19	54760659	.	G	A	5323.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-3.612e+00;DP=4063;ExcessHet=1.1607;FS=0.000;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=53.72;MQRankSum=-6.027e+00;QD=3.24;ReadPosRankSum=-3.710e-01;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,102,1530	16	0	5	0
chr19	54760665	54760665	T	C	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	418	625	479	0	0	479	0.277039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162810689	1.118e-05	5.691e-05	8.35e-06	1.404e-05	0.0002	6.62e-06	5.36e-06	0.0001	8.77e-05	0	2.281e-05	0	0	0	0	0	0	0.0002	0	7.312e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	14816.48	37	chr19	54760665	.	T	C	14816.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.128e+00;DP=4120;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=54.82;MQRankSum=-8.959e+00;QD=3.99;ReadPosRankSum=1.59;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,102,1530	7	0	14	0
chr19	54760676	54760676	T	A	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	427	600	495	0	0	495	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252325157	1.398e-05	8.023e-05	9.746e-06	1.826e-05	0.0002	9.13e-06	7.42e-06	0.0001	0.0001	0	2.283e-05	0	0	0	0	0	1.692e-05	0.0002	0	7.986e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	15285.48	37	chr19	54760676	.	T	A	15285.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.658e+00;DP=4024;ExcessHet=14.4320;FS=0.732;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=55.58;MQRankSum=-9.713e+00;QD=4.21;ReadPosRankSum=2.84;SOR=0.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,102,1530	7	0	14	0
chr19	54760683	54760683	G	C	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	421	1091	9	0	1	10	0.00410771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00359425	.	.	.	.	.	.	.	.	0.0004398	68	154602	rs146118066	0.0040	0.0040	0.0040	0.0039	0.0047	0.0039	0.0039	0.0043	0.0042	0.0005	0.0032	0.0038	5.064e-05	0.0008	0.0035	0.0044	0.0035	0.0047	0.0027	0.0027	0.0029	0.0025	0.0057	0.0025	0.0024	0.0040	0.0034	0.0008	0	0.0033	0.0049	0.0004	0.0010	0	0.0038	0.0034	0.0057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2773.98	37	chr19	54760683	.	G	C	2773.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.828e+00;DP=3811;ExcessHet=0.0000;FS=12.765;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.10;MQRankSum=8.46;QD=24.77;ReadPosRankSum=0.786;SOR=0.060	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr19	54760692	54760692	A	G	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	419	580	521	2	0	525	0.311573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411892976	4.767e-05	0.0002	3.349e-05	6.197e-05	0.0006	3.82e-05	3.496e-05	0.0004	0.0004	0	2.29e-05	0	0	0	0.0002	1.384e-05	6.786e-05	0.0006	0	9.992e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	15714.52	37	chr19	54760692	.	A	G	15714.52	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.369e+00;DP=3836;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5003;MLEAC=14;MLEAF=0.333;MQ=56.22;MQRankSum=-1.158e+01;QD=4.47;ReadPosRankSum=4.04;SOR=0.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,102,1530	7	0	14	0
chr19	54760695	54760695	T	C	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	420	579	521	2	0	525	0.311943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1406047822	3.998e-05	0.0001	2.094e-05	5.918e-05	0.0006	3.124e-05	2.853e-05	0.0005	0.0004	0	2.291e-05	0	0	0	0	0	5.092e-05	0.0006	0	9.996e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	15927.52	37	chr19	54760695	.	T	C	15927.52	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.378e+00;DP=3798;ExcessHet=14.4320;FS=0.728;InbreedingCoeff=-0.5003;MLEAC=14;MLEAF=0.333;MQ=56.26;MQRankSum=-1.138e+01;QD=4.62;ReadPosRankSum=4.12;SOR=0.596	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,102,1530	7	0	14	0
chr19	54767313	54767313	G	C	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.G992C:p.R331T,	.	.	436	1047	27	12	0	51	0.0237762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs4020182	1.906e-05	2.713e-05	2.388e-05	1.419e-05	4.618e-05	1.305e-05	1.119e-05	1.508e-05	1.267e-05	0	4.618e-05	0	0	1.907e-05	0	2.23e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	158.98	38	chr19	54767313	.	G	C	158.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.830e-01;DP=3500;ExcessHet=0.0000;FS=13.594;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.29;MQRankSum=-1.855e+01;QD=0.46;ReadPosRankSum=-1.918e+00;SOR=1.767	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,105,1575	20	0	1	0
chr19	54767314	54767314	A	C	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.A993C:p.R331S,	.	.	437	1046	27	12	0	51	0.0237984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs4020183	9.31e-05	0.0054	7.637e-05	0.0001	0.0003	7.988e-05	7.514e-05	0.0002	0.0001	0.0003	0.0003	0.0002	0.0001	0.0001	0.0002	7.38e-05	5.179e-05	0.0001	0.0002	0.0045	0.0002	0.0003	0.0005	0.0002	0.0002	0.0001	9.824e-05	0.0002	0	0.0003	0	0.0002	0	0.0039	0.0002	0.0016	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	152.98	38	chr19	54767314	.	A	C	152.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.211;DP=3497;ExcessHet=0.0000;FS=13.540;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.29;MQRankSum=-1.861e+01;QD=0.44;ReadPosRankSum=-2.119e+00;SOR=1.771	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,105,1575	20	0	1	0
chr19	54767315	54767315	G	A	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.G994A:p.V332M,	.	.	436	1047	27	12	0	51	0.0237762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1339510286	2.758e-05	0.0016	1.97e-05	3.554e-05	0.0001	2.065e-05	1.813e-05	4.488e-05	2.953e-05	6.119e-05	0.0001	8.191e-05	5.081e-05	1.91e-05	0	1.767e-05	3.428e-05	7.226e-05	0.0001	0.0020	6.973e-05	0.0002	0.0005	7.182e-05	5.784e-05	0.0001	6.24e-05	2.598e-05	0	0.0003	0	0.0002	0	0	0.0001	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	168.98	38	chr19	54767315	.	G	A	168.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.490e-01;DP=3501;ExcessHet=0.0000;FS=11.220;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.29;MQRankSum=-1.869e+01;QD=0.48;ReadPosRankSum=-2.287e+00;SOR=1.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,105,1575	20	0	1	0
chr19	54767322	54767322	C	T	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.C1001T:p.T334M,	.	.	436	1034	40	12	0	64	0.0300188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1274559595	3.256e-05	0.0020	3.239e-05	3.273e-05	0.0002	2.496e-05	2.232e-05	7.519e-05	5.313e-05	0.0001	0.0002	8.218e-05	0.0001	1.911e-05	0	1.768e-05	3.432e-05	8.472e-05	0.0001	0.0028	8.339e-05	0.0002	0.0004	9.419e-05	7.868e-05	0.0001	9.679e-05	2.591e-05	0	0.0004	0	0.0002	0	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	211.53	38	chr19	54767322	.	C	T	211.53	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.22;DP=3717;ExcessHet=0.1072;FS=5.524;InbreedingCoeff=-0.0399;MLEAC=1;MLEAF=0.024;MQ=58.48;MQRankSum=-1.858e+01;QD=0.21;ReadPosRankSum=-2.022e+00;SOR=1.428	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,105,1575	19	0	2	0
chr19	54767339	54767339	G	A	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.G1018A:p.E340K,	.	.	437	984	91	10	0	111	0.0533911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1372790026	1.835e-05	2.225e-05	2.247e-05	1.418e-05	2.535e-05	1.277e-05	1.085e-05	1.422e-05	1.188e-05	0	0	0	2.535e-05	1.906e-05	0	2.136e-05	1.709e-05	0	6.928e-06	6.727e-06	1.348e-05	0	1.538e-05	0	0	.	.	0	0	0	0	0	0	0	1.538e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	866.68	38	chr19	54767339	.	G	A	866.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.688e+00;DP=4012;ExcessHet=0.3300;FS=2.181;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=58.38;MQRankSum=-1.830e+01;QD=0.65;ReadPosRankSum=-6.090e-01;SOR=0.881	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,105,1575	18	0	3	0
chr19	54767342	54767342	T	C	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.T1021C:p.S341P,	.	.	439	981	92	10	0	112	0.0540019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1213695475	0.0003	0.0051	0.0002	0.0003	0.0011	0.0002	0.0002	0.0009	0.0008	0.0004	0.0011	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0005	0.0067	0.0006	0.0004	0.0011	0.0004	0.0004	0.0009	0.0008	0.0011	0.0012	0.0004	0.0003	0	0	0.0037	0.0002	0.0016	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	724.68	38	chr19	54767342	.	T	C	724.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.300e-02;DP=3993;ExcessHet=0.3300;FS=1.028;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=58.41;MQRankSum=-1.835e+01;QD=0.54;ReadPosRankSum=-6.200e-01;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,105,1575	18	0	3	0
chr19	54767349	54767349	C	-	exonic	KIR2DL1;LOC112267881	.	frameshift deletion	KIR2DL1:NM_014218:exon8:c.1028delC:p.S343fs,	.	.	439	964	109	10	0	129	0.0627127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.062e-07	3.477e-06	1.406e-06	0	2.535e-05	0	0	.	.	0	0	0	2.535e-05	0	0	0	0	0	0	6.726e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	834.64	38	chr19	54767348	.	TC	T	834.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-9.180e-01;DP=3969;ExcessHet=0.3300;FS=1.030;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=58.38;MQRankSum=-1.822e+01;QD=0.64;ReadPosRankSum=0.322;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,105,1575	18	0	3	0
chr19	54767352	54767354	AAG	-	exonic	KIR2DL1;LOC112267881	.	nonframeshift deletion	KIR2DL1:NM_014218:exon8:c.1031_1033del:p.344_345del,	.	.	437	959	116	10	0	136	0.0662123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.118e-06	3.477e-06	2.811e-06	1.419e-06	2.535e-05	5.6e-07	1.6e-07	.	.	0	0	0	2.535e-05	0	0	0	1.709e-05	1.198e-05	0	6.715e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	967.64	38	chr19	54767351	.	AAAG	A	967.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.515e+00;DP=4059;ExcessHet=0.3300;FS=0.992;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=58.35;MQRankSum=-1.729e+01;QD=0.75;ReadPosRankSum=0.647;SOR=0.531	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,105,1575	18	0	3	0
chr19	54767353	54767353	A	0	exonic	KIR2DL1;LOC112267881	.	.	.	.	.	444	526	404	111	37	663	0.373063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	59730.09	38	chr19	54767353	.	A	C,*	59730.09	.	AC=13,2;AF=0.310,0.048;AN=42;BaseQRankSum=-1.860e+00;DP=4843;ExcessHet=0.1361;FS=0.529;InbreedingCoeff=0.2741;MLEAC=13,2;MLEAF=0.310,0.048;MQ=58.91;MQRankSum=0.00;QD=14.36;ReadPosRankSum=0.166;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0,0:42:99:.:.:0,105,1575,105,1575,1575	10	4	5	0
chr19	54769866	54769866	G	A	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon1:c.G16A:p.V6I	.	.	423	1018	81	0	0	81	0.0382617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.013	B	0.009	B	.	.	1.000	N	0.72	N	7.18	T	-0.961	T	0.001	T	0.161	-0.160	3.220	-1.03	-0.402	-0.324	.	0.017	0.0082991101408	.	.	4.241e-05	0.0002	8.884e-05	0	0	3.095e-05	0	0	0.0005692	88	154602	rs375195215	0.0002	0.0019	0.0002	0.0003	0.0009	0.0002	0.0002	0.0007	0.0006	0.0006	0.0009	0.0007	2.545e-05	0.0004	0.0002	0.0002	0.0002	0.0004	0.0005	0.0063	0.0005	0.0005	0.0011	0.0004	0.0004	0.0008	0.0007	0.0011	0	0.0004	0	0	0.0005	0	0.0003	0	0.0010	0.112	0.30235	T	0.681	0.10245	T	0.013	0.16609	B	0.009	0.14300	B	.	.	.	.	0.999974	0.81001	N	.	.	.	7.18	0.00438	T	-0.52	0.16393	N	0.078	0.05287	-0.9611	0.38974	T	0.001	0.00287	T	8	0.042778373	0.03059	T	0.008299	0.21979	T	0.017	0.02790	.	.	0.163833314356	0.15978	0.07523266231580931	0.07459	0.258293071172	0.28385	0.446146994829	0.31418	T	0.011846	0.10509	T	-0.454054	0.01069	T	-0.653325	0.08723	T	0.0061362524239717	0.00068	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.15564	B	.;.	.;.	0.228841	0.06102	2.548	0.76514937681009665	0.11499	0.00123	0.00769	N	AEFBI	0.020265	0.00784	N	-1.40368950837253	0.02606	0.1153194	-1.52506351735761	0.02152	0.098572	2.19688426057424E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.514364	0.09456	0	0.564101	0.26826	0	.	.	0.514	-1.03	0.09586	0.333000	0.19512	.	.	-1.352000	0.01191	0.021000	0.19753	0.000000	0.08366	0.002000	0.04165	.	.	.	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1053	440.06	36	chr19	54769866	.	G	A	440.06	.	AC=4;AF=0.105;AN=38;BaseQRankSum=4.52;DP=3805;ExcessHet=0.6776;FS=4.677;InbreedingCoeff=-0.1398;MLEAC=4;MLEAF=0.105;MQ=57.10;MQRankSum=-7.783e+00;QD=0.54;ReadPosRankSum=-2.840e+00;SOR=1.382	GT:AD:DP:GQ:PL	0/0:107,0:107:99:0,120,1800	15	0	4	2
chr19	54773464	54773464	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.G202C:p.D68H	.	.	425	856	241	0	0	241	0.1234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.444	B	0.198	B	.	.	1.000	N	1.695	L	2.03	T	-1.006	T	0.041	T	0.396	0.186	5.000	-1.93	-0.374	-0.063	2.604	0.038	0.000804883088689	.	.	.	.	.	.	.	.	.	.	.	.	.	rs745536485	6.26e-06	0.0002	5.539e-06	6.987e-06	2.264e-05	2.95e-06	2.13e-06	3.15e-06	2.28e-06	0	2.264e-05	0	0	0	0	7.325e-06	0	0	0.0001	0.0024	0.0001	0.0001	0.0004	7.39e-05	6.091e-05	8.225e-05	5.802e-05	0.0002	0	0.0002	0	0	0	0	7.634e-05	0	0.0004	0.064	0.38407	T	0.247	0.23914	T	0.444	0.35956	B	0.198	0.36766	B	.	.	.	.	1	0.08975	N	.	.	.	2.03	0.20959	T	-2.52	0.54702	D	0.188	0.25130	-1.0056	0.28277	T	0.041	0.17657	T	9	0.1068652	0.19824	T	8.05E-4	0.00629	T	0.038	0.09825	0.276	0.22845	0.283761946502	0.27984	0.08192545392014942	0.08127	0.476618817085	0.46789	0.428809553385	0.29046	T	0.010046	0.09105	T	-0.210968	0.19242	T	-0.540818	0.18217	T	0.0742162314790902	0.09230	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.29833	B	.;.	.;.	0.494158	0.08635	5.403	0.86631705629094091	0.16667	0.00709	0.03002	N	AEFDBI	0.050506	0.08834	N	-0.947669841844548	0.09745	0.4625647	-1.15399594513377	0.06696	0.3231991	1.94292267281438E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	-1.93	0.07180	-0.459000	0.06805	.	.	-0.401000	0.05297	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2328:0.3114:0.4559:0.0	2.604	0.04579	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	14619.01	48	chr19	54773464	.	G	C	14619.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=4.28;DP=7976;ExcessHet=4.7172;FS=6.777;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=57.69;MQRankSum=-1.747e+01;QD=2.88;ReadPosRankSum=-1.077e+00;SOR=1.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:52,0:52:99:.:.:0,120,1800	12	0	9	0
chr19	54773510	54773510	C	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.C248G:p.A83G	.	.	428	768	326	0	0	326	0.175081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.1	B	0.33	B	.	.	1.000	N	2.97	M	2.06	T	-0.864	T	0.092	T	0.345	0.514	6.788	0.116	0.106	0.120	3.815	0.067	0.00119558056772	.	.	.	.	.	.	.	.	.	.	.	.	.	rs530076007	0.0001	0.0040	0.0002	0.0001	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0.0002	0	2.556e-05	1.91e-05	0	0.0002	0.0001	0.0001	4.77e-05	0.0026	2.662e-05	6.981e-05	0.0002	2.18e-05	1.572e-05	1.992e-05	1.052e-05	7.514e-05	0	0	0	0.0002	0	0	4.565e-05	0	0	0.053	0.40832	T	0.104	0.38160	T	0.1	0.25713	B	0.33	0.42079	B	.	.	.	.	1	0.08975	N	.	.	.	2.06	0.20523	T	-2.38	0.52451	N	0.208	0.23758	-0.8637	0.50995	T	0.092	0.35119	T	9	0.13614216	0.25903	T	0.001196	0.01533	T	0.067	0.19503	0.605	0.73706	0.405150804464	0.40131	0.04592118071307132	0.04536	0.346524564405	0.36559	0.357214689255	0.18980	T	0.045691	0.27199	T	-0.175925	0.24344	T	-0.490481	0.23340	T	0.2225591391325	0.21591	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.32922	B	.;.	.;.	1.122996	0.15092	11.58	0.93936832440862883	0.23989	0.00979	0.03733	N	AEFDBI	0.047211	0.07926	N	-0.935946201820849	0.10011	0.4763772	-1.14448522620441	0.06868	0.3320446	1.159795150757E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	0.116	0.13953	0.259000	0.18174	.	.	-0.444000	0.05162	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.7435:0.0:0.2565	3.815	0.08327	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	25978.01	48	chr19	54773510	.	C	G	25978.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-1.190e+00;DP=8922;ExcessHet=4.7172;FS=3.446;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=57.57;MQRankSum=-2.189e+01;QD=4.42;ReadPosRankSum=1.88;SOR=1.040	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	12	0	9	0
chr19	54775212	54775212	-	GCACAGGAGAGAACGTGACCTTGTCCTGCAGCTCCAGGAGCTCATTTGACATGTACCATCTATCCAGGGAGGGGAGGGCCCATGAACCTAGGCTCCCTGCAGTGCCCAGCGTCGATGGAACAT	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonframeshift insertion	LOC112267881:NM_001368251:exon4:c.418_419insGCACAGGAGAGAACGTGACCTTGTCCTGCAGCTCCAGGAGCTCATTTGACATGTACCATCTATCCAGGGAGGGGAGGGCCCATGAACCTAGGCTCCCTGCAGTGCCCAGCGTCGATGGAACAT:p.L140delinsRTGENVTLSCSSRSSFDMYHLSREGRAHEPRLPAVPSVDGTL	.	.	418	1102	1	0	1	2	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1503.94	369	chr19	54775212	.	C	CGCACAGGAGAGAACGTGACCTTGTCCTGCAGCTCCAGGAGCTCATTTGACATGTACCATCTATCCAGGGAGGGGAGGGCCCATGAACCTAGGCTCCCTGCAGTGCCCAGCGTCGATGGAACAT	1503.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.69;DP=6312;ExcessHet=0.0000;FS=5.693;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.41;MQRankSum=-1.875e+01;QD=2.51;ReadPosRankSum=-1.130e+01;SOR=1.391	GT:AD:DP:GQ:PL	0/0:422,0:422:99:0,120,1800	20	0	1	0
chr19	54775258	54775258	A	T	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.A464T:p.Y155F	.	.	413	1094	15	0	0	15	0.0068089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.005	B	0.011	B	.	.	1.000	N	-0.285	N	2.1	T	-0.973	T	0.017	T	0.253	-2.568	0.003	-2.21	-0.948	-0.354	1.999	0.012	0.000485302517296	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1403622068	0	8.233e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292	0.14996	T	1.0	0.01155	T	0.005	0.12996	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	2.1	0.19990	T	1.24	0.01037	N	0.071	0.06720	-0.9729	0.36583	T	0.017	0.06759	T	9	0.03911847	0.02379	T	4.85E-4	0.00133	T	0.012	0.01476	0.482	0.56302	0.112648838833	0.10856	0.020301396716153615	0.01983	0.920550017077	0.71431	0.410283654928	0.26495	T	0.001332	0.00808	T	-0.28797	0.09841	T	-0.651426	0.08854	T	0.0829859076827499	0.10364	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.14706	B	.;.	.;.	-0.303199	0.02603	0.323	0.33138870032821505	0.01958	0.00038	0.00324	N	AEFBI	0.017241	0.00439	N	-1.85737701345998	0.00419	0.01803751	-1.91465860294619	0.00458	0.02026758	5.1668644097163E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-2.21	0.06581	-0.472000	0.06702	.	.	-0.596000	0.04633	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.3016:0.0:0.296:0.4023	1.999	0.03252	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	715.33	393	chr19	54775258	.	A	T	715.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.450;DP=6998;ExcessHet=0.0000;FS=7.011;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=57.79;MQRankSum=-1.473e+01;QD=2.78;ReadPosRankSum=-3.407e+00;SOR=1.270	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:454,0:454:99:.:.:0,120,1800	19	0	1	1
chr19	54775282	54775282	A	-	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	frameshift deletion	LOC112267881:NM_001368251:exon4:c.488delA:p.E163fs	.	.	419	1064	39	0	0	39	0.0179972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1104.94	393	chr19	54775281	.	GA	G	1104.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.465e+00;DP=7013;ExcessHet=0.0000;FS=8.749;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.54;MQRankSum=-1.304e+01;QD=4.08;ReadPosRankSum=-7.670e-01;SOR=1.350	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:454,0:454:99:.:.:0,120,1800	20	0	1	0
chr19	54775288	54775288	-	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	frameshift insertion	LOC112267881:NM_001368251:exon4:c.495dupG:p.E165fs	.	.	421	1059	42	0	0	42	0.0194444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1111.68	393	chr19	54775288	.	A	AG	1111.68	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.770e-01;DP=7127;ExcessHet=0.0000;FS=10.128;InbreedingCoeff=-0.0500;MLEAC=1;MLEAF=0.026;MQ=57.53;MQRankSum=-1.313e+01;QD=4.13;ReadPosRankSum=1.06;SOR=1.402	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:454,0:454:99:.:.:0,120,1800	18	0	1	2
chr19	54775300	54775300	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G506C:p.R169P	.	.	418	1060	44	0	0	44	0.0203327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.008	B	0.016	B	.	.	1.000	N	0.255	N	2.08	T	-1.014	T	0.022	T	0.318	-0.304	2.551	-2.21	-2.317	-0.676	0.428	0.034	0.000533817443437	.	.	9.182e-06	0	0	0	0	1.664e-05	0	0	6.5e-06	1	154602	rs377404034	2.07e-06	2.746e-06	2.746e-06	1.387e-06	2.723e-06	5.5e-07	1.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.723e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.50676	D	0.244	0.24123	T	0.008	0.14655	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	.	.	.	2.08	0.20255	T	-1.07	0.28703	N	0.109	0.09490	-1.0143	0.25561	T	0.022	0.09421	T	9	0.07263684	0.10869	T	5.34E-4	0.00185	T	0.034	0.08419	0.471	0.54537	0.255777322467	0.25185	0.12622002758448372	0.12548	1.08736435357	0.77331	0.269752025604	0.06108	T	0.009314	0.08490	T	-0.266831	0.12114	T	-0.62106	0.11103	T	0.0555891335135268	0.06456	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.43909	B	.;.	.;.	-0.151872	0.03345	0.590	0.78658180529256316	0.12396	0.00141	0.00861	N	AEFBI	0.041804	0.06403	N	-1.7447477935692	0.00695	0.02999557	-1.85797119578351	0.00591	0.02624484	1.18491246197326E-4	0.05269	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-2.21	0.06581	-2.190000	0.01332	.	.	-0.551000	0.04898	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2:0.3202:0.2042:0.2755	0.428	0.00435	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	1003.72	393	chr19	54775300	.	G	C	1003.72	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.600e-02;DP=7077;ExcessHet=0.0000;FS=10.292;InbreedingCoeff=-0.0500;MLEAC=1;MLEAF=0.026;MQ=57.38;MQRankSum=-1.277e+01;QD=3.97;ReadPosRankSum=3.12;SOR=1.264	GT:AD:DP:GQ:PL	0/0:454,0:454:99:0,120,1800	18	0	1	2
chr19	54775321	54775321	A	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.A527G:p.K176R	.	.	422	828	43	0	229	272	0.025309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.0	B	0.001	B	.	.	1.000	N	-0.105	N	1.98	T	-1.002	T	0.021	T	0.246	-0.452	1.906	-0.528	0.045	0.507	3.540	0.018	.	.	0.0285543	.	.	.	.	.	.	.	.	0.0054941	143	26028	rs551912555	8.066e-07	3.135e-06	0	1.627e-06	1.358e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.358e-05	0	9.404e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.991	0.02359	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.98	0.21865	T	-0.69	0.19933	N	0.037	0.01135	-1.0019	0.29372	T	0.021	0.09101	T	9	0.004271269	0.00086	T	.	.	.	0.018	0.03083	.	.	0.159798565429	0.15598	0.019697881130799132	0.01922	0.286032070692	0.31010	0.328735619783	0.14742	T	0.004251	0.03660	T	-0.268425	0.11932	T	-0.62335	0.10925	T	0.097581160795981	0.12089	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04159	B	.;.	.;.	0.196263	0.05818	2.258	0.65962790167702579	0.07922	0.00008	0.00134	N	AEFBI	0.015820	0.00321	N	-1.50332710389849	0.01828	0.08013823	-1.56523357978012	0.01873	0.08537886	1.69642889776649E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.528	0.11310	0.180000	0.16672	.	.	-1.221000	0.01338	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2906:0.0:0.7094:0.0	3.540	0.07364	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.1667	1345.52	392	chr19	54775321	.	A	G,*	1345.52	.	AC=1,6;AF=0.024,0.143;AN=42;BaseQRankSum=-5.880e-01;DP=7788;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=1,6;MLEAF=0.024,0.143;MQ=56.42;MQRankSum=-5.177e+00;QD=0.44;ReadPosRankSum=-1.405e+00;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:383,0,81:464:99:0|1:54775315_G_T:2248,3401,19450,0,16049,15805:54775315	14	0	1	0
chr19	54775321	54775321	A	0	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	.	.	.	.	422	828	43	0	229	272	0.025309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1345.52	392	chr19	54775321	.	A	G,*	1345.52	.	AC=1,6;AF=0.024,0.143;AN=42;BaseQRankSum=-5.880e-01;DP=7788;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=1,6;MLEAF=0.024,0.143;MQ=56.42;MQRankSum=-5.177e+00;QD=0.44;ReadPosRankSum=-1.405e+00;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:383,0,81:464:99:0|1:54775315_G_T:2248,3401,19450,0,16049,15805:54775315	14	0	1	0
chr19	54775322	54775322	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G528C:p.K176N	.	.	422	827	45	0	228	273	0.0264862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.375	B	0.035	B	.	.	1.000	N	1.405	L	1.96	T	-1.032	T	0.034	T	0.215	0.284	5.538	-0.175	0.019	-1.768	4.925	0.019	.	.	0.0201677	.	.	.	.	.	.	.	.	0.0038804	101	26028	rs142432377	2.414e-06	7.05e-06	0	4.87e-06	4.068e-05	6.4e-07	1.8e-07	1.08e-05	5e-06	0	0	0	0	0	0	0	0	4.068e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.226	0.26467	T	0.375	0.34209	B	0.035	0.22741	B	.	.	.	.	1	0.08975	N	.	.	.	1.96	0.22270	T	-0.52	0.16187	N	0.087	0.12484	-1.0322	0.19745	T	0.034	0.14509	T	9	0.004861355	0.00104	T	.	.	.	0.019	0.03383	0.372	0.38340	0.227934060464	0.22382	0.025502537409497105	0.02501	0.404161105383	0.41326	0.335895627737	0.15823	T	0.004204	0.03611	T	-0.284357	0.10210	T	-0.646235	0.09220	T	0.0611866430199818	0.07353	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.42052	B	.;.	.;.	-0.534999	0.01758	0.133	0.94203204982077993	0.24439	0.00039	0.00329	N	AEFBI	0.018778	0.00597	N	-1.06418851789445	0.07312	0.3392801	-1.222503267997	0.05550	0.2647508	1.6514964015941E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.175	0.12662	-4.523000	0.00254	.	.	-2.710000	0.00207	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5946:0.4054:0.0	4.925	0.13239	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.1667	1387.52	392	chr19	54775322	.	G	C,*	1387.52	.	AC=1,6;AF=0.024,0.143;AN=42;BaseQRankSum=-6.000e-02;DP=7783;ExcessHet=2.5830;FS=0.681;InbreedingCoeff=-0.2000;MLEAC=1,6;MLEAF=0.024,0.143;MQ=56.43;MQRankSum=-5.198e+00;QD=0.45;ReadPosRankSum=-1.555e+00;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:383,0,81:464:99:0|1:54775315_G_T:2248,3401,19450,0,16049,15805:54775315	14	0	1	0
chr19	54775322	54775322	G	0	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	.	.	.	.	422	827	45	0	228	273	0.0264862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1387.52	392	chr19	54775322	.	G	C,*	1387.52	.	AC=1,6;AF=0.024,0.143;AN=42;BaseQRankSum=-6.000e-02;DP=7783;ExcessHet=2.5830;FS=0.681;InbreedingCoeff=-0.2000;MLEAC=1,6;MLEAF=0.024,0.143;MQ=56.43;MQRankSum=-5.198e+00;QD=0.45;ReadPosRankSum=-1.555e+00;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:383,0,81:464:99:0|1:54775315_G_T:2248,3401,19450,0,16049,15805:54775315	14	0	1	0
chr19	54775326	54775326	A	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.A532G:p.N178D	.	.	422	1064	36	0	0	36	0.0166359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.003	B	0.007	B	.	.	1.000	N	0.785	N	1.89	T	-1.012	T	0.038	T	0.254	0.383	6.079	0.929	0.661	-1.246	4.103	0.017	0.000681058510757	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1215468336	6.977e-07	6.902e-07	0	1.402e-06	1.171e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.171e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.444	0.13177	T	0.003	0.11197	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	.	.	.	1.89	0.23688	T	-2.9	0.61580	D	0.082	0.05799	-1.0121	0.26259	T	0.038	0.16376	T	9	0.12823194	0.24391	T	6.81E-4	0.00400	T	0.017	0.02790	0.601	0.73226	0.274366138417	0.27033	0.013315020428090234	0.01289	0.358671969282	0.37580	0.3478320539	0.17603	T	0.011679	0.10383	T	-0.256694	0.13289	T	-0.606499	0.12271	T	0.06326756290711	0.07672	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.22644	B	.;.	.;.	0.069814	0.04784	1.399	0.87986939868078262	0.17631	0.00176	0.01036	N	AEFBI	0.030299	0.03023	N	-1.1105273196534	0.06455	0.2971903	-1.21311527541954	0.05699	0.2722578	2.47110482199817E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.929	0.929	0.18575	-1.728000	0.01958	.	.	-1.371000	0.01170	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	1.0:0.0:0.0:0.0	4.103	0.09495	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1392.98	342	chr19	54775326	.	A	G	1392.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.885e+00;DP=7557;ExcessHet=0.0000;FS=8.300;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.06;MQRankSum=-1.153e+01;QD=5.57;ReadPosRankSum=3.14;SOR=1.122	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:411,0:411:99:.:.:0,120,1800	20	0	1	0
chr19	54775384	54775384	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G590C:p.R197T	.	.	426	1039	57	0	0	57	0.0266979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.959	D	0.689	P	.	.	1.000	N	2.66	M	2.31	T	-1.055	T	0.076	T	0.555	0.710	7.782	1.1	0.924	0.449	5.593	0.078	0.000894665299984	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs371438548	0.0004	0.0008	0.0005	0.0004	0.0162	0.0004	0.0004	0.0150	0.0146	0.0162	0.0007	0	2.525e-05	0	0.0004	1.56e-05	0.0006	3.515e-05	0.0056	0.0078	0.0061	0.0051	0.0197	0.0053	0.0052	0.0185	0.0181	0.0197	0	0.0020	0	0	0	0	3.027e-05	0.0034	0	0.003	0.68238	D	0.008	0.69154	D	0.912	0.50421	P	0.292	0.40739	B	.	.	.	.	1	0.18612	N	.	.	.	2.31	0.16794	T	-4.38	0.77637	D	0.364	0.43126	-1.0551	0.13013	T	0.076	0.30397	T	9	0.08121961	0.13272	T	8.95E-4	0.00822	T	0.078	0.22779	0.728	0.86198	0.518697010188	0.51514	0.2688665995209388	0.26799	0.495754958489	0.48109	0.335689872503	0.15792	T	0.102698	0.41067	T	-0.153878	0.27706	T	-0.458811	0.26729	T	0.309333021477853	0.25387	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.38640	B	.;.	.;.	1.943256	0.24685	16.49	0.78307117121168801	0.12244	0.01494	0.04957	N	AEFBI	0.038374	0.05420	N	-0.37991661132699	0.26186	1.427204	-0.6587236976745	0.17997	0.9594499	3.25848057682871E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	1.1	0.19578	0.024000	0.13447	.	.	-0.340000	0.05703	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.0:1.0:0.0	5.593	0.16593	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1243.98	39	chr19	54775384	.	G	C	1243.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.701e+00;DP=6311;ExcessHet=0.0000;FS=18.959;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.89;MQRankSum=-1.038e+01;QD=5.18;ReadPosRankSum=-7.460e-01;SOR=1.018	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1365	20	0	1	0
chr19	54775392	54775392	G	A	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G598A:p.G200S	.	.	425	1048	49	0	0	49	0.0228438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.912	D	.	.	1.000	N	1.535	L	5.68	T	-0.880	T	0.002	T	0.196	2.174	13.23	-0.055	0.043	-0.064	3.457	0.057	.	0.0070	0.00638978	0.0019	0.0216	0.0007	0	0	6.211e-05	0	0.0001	0.001727	267	154602	rs111277046	0.0006	0.0007	0.0007	0.0005	0.0207	0.0006	0.0006	0.0195	0.0189	0.0207	0.0008	0	0	0	0.0007	6.239e-05	0.0010	0.0002	0.0054	0.0056	0.0057	0.0051	0.0187	0.0051	0.0050	0.0176	0.0171	0.0187	0	0.0018	0	0	0	0	0.0001	0.0024	0.0004	0.001	0.78490	D	0.217	0.28860	T	0.999	0.77913	D	0.912	0.64797	D	.	.	.	.	1	0.08975	N	.	.	.	5.68	0.00759	T	-4.8	0.81187	D	0.152	0.17002	-0.8802	0.49746	T	0.002	0.00769	T	9	0.0055010617	0.00121	T	.	.	.	0.057	0.16321	.	.	0.310458034454	0.30648	0.19989379502801208	0.19906	1.04360297355	0.75885	0.300670742989	0.10500	T	0.045065	0.27007	T	-0.5975	0.00151	T	-0.61279	0.11760	T	0.0457227073311307	0.04733	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.48008	B	.;.	.;.	2.460036	0.31693	18.82	0.9847287461623232	0.41884	0.00273	0.01482	N	AEFBI	0.035321	0.04525	N	-0.747881428606765	0.14690	0.7339538	-0.97225822960036	0.10410	0.524182	1.6460515239701E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.0552	0.13141	0.061000	0.14242	.	.	0.478000	0.22058	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2948:0.0:0.7052:0.0	3.457	0.07086	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1126.98	39	chr19	54775392	.	G	A	1126.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.79;DP=6307;ExcessHet=0.0000;FS=13.199;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.78;MQRankSum=-4.275e+00;QD=4.82;ReadPosRankSum=0.266;SOR=0.934	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1365	20	0	1	0
chr19	54775398	54775398	T	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.T604C:p.F202L	.	.	426	1039	57	0	0	57	0.0266979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.495	P	0.06	B	.	.	1.000	N	1.195	L	5.85	T	-0.905	T	0.002	T	0.501	0.892	8.622	-0.17	-0.101	-0.056	3.035	0.101	0.00100448710875	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796519937	1.393e-06	3.111e-05	1.387e-06	1.4e-06	2.27e-05	2.3e-07	9e-08	.	.	0	2.27e-05	0	0	0	0	0	1.684e-05	0	6.752e-06	1.998e-05	1.317e-05	0	6.802e-05	0	0	.	.	0	0	6.802e-05	0	0	0	0	0	0	0	0.001	0.78490	D	0.373	0.17064	T	0.296	0.32457	B	0.03	0.21741	B	.	.	.	.	1	0.08975	N	.	.	.	5.85	0.00643	T	-3.67	0.70793	D	0.052	0.03392	-0.9051	0.47435	T	0.002	0.00707	T	9	0.1291396	0.24569	T	0.001004	0.01073	T	0.101	0.28911	0.61	0.74300	0.143124449307	0.13826	0.09827000553292622	0.09757	0.666767740789	0.59216	0.413420438766	0.26930	T	0.014801	0.12535	T	-0.18997	0.22262	T	-0.510655	0.21248	T	0.129981735902841	0.15380	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.770	0.80517	P	.;.	.;.	0.851745	0.12237	8.783	0.86419233700547171	0.16523	0.00346	0.01789	N	AEFBI	0.031805	0.03473	N	-0.98016430785819	0.09027	0.4256011	-1.14646743373112	0.06831	0.3301903	1.66287446658842E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.17	0.12681	-0.343000	0.07838	.	.	0.472000	0.21952	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3925:0.0:0.0:0.6075	3.035	0.05751	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	982.98	39	chr19	54775398	.	T	C	982.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.994;DP=6297;ExcessHet=0.0000;FS=15.760;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.74;MQRankSum=-4.332e+00;QD=4.43;ReadPosRankSum=0.847;SOR=0.973	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1365	20	0	1	0
chr19	54775425	54775425	A	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.A631G:p.K211E	.	.	424	1013	85	0	0	85	0.0402653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.0	B	0.002	B	.	.	1.000	N	0.49	N	5.87	T	-0.847	T	0.002	T	0.263	-1.490	0.017	-2.21	-4.826	-0.493	2.064	0.059	0.000592734597817	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1160831907	0	1.383e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.554	0.09298	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	5.87	0.00635	T	1.39	0.00857	N	0.07	0.05037	-0.8467	0.52195	T	0.002	0.00615	T	9	0.028063536	0.00943	T	5.93E-4	0.00260	T	0.059	0.16972	0.323	0.30387	0.16115917748	0.15686	0.029241745084215797	0.02873	2.21200435668	0.95776	0.31968459487	0.13373	T	4.12E-4	0.00135	T	-0.28523	0.10121	T	-0.647489	0.09131	T	0.0937598886220576	0.11657	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.11414	B	.;.	.;.	0.318454	0.06933	3.475	0.20862290473268763	0.00769	0.00019	0.00214	N	AEFBI	0.018778	0.00597	N	-2.32359019538145	0.00040	0.001725136	-2.43884286613337	0.00032	0.001406827	0.936798265882266	0.27269	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-2.21	0.06581	-0.210000	0.09349	.	.	-1.332000	0.01214	0.006000	0.17386	0.000000	0.08366	0.000000	0.00833	0.1649:0.2413:0.4377:0.1561	2.064	0.03380	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	1586.96	39	chr19	54775425	.	A	G	1586.96	.	AC=4;AF=0.095;AN=42;BaseQRankSum=2.62;DP=5430;ExcessHet=0.6776;FS=5.399;InbreedingCoeff=-0.1039;MLEAC=4;MLEAF=0.095;MQ=56.79;MQRankSum=-9.969e+00;QD=0.97;ReadPosRankSum=0.585;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1365	17	0	4	0
chr19	54775427	54775427	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G633C:p.K211N	.	.	424	1013	85	0	0	85	0.0402653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-0.46	N	5.73	T	-0.937	T	0.001	T	0.203	-1.489	0.017	-6.75E-4	-0.370	-0.102	2.428	0.014	0.001147116708	.	.	8.585e-06	0.0001	0	0	0	0	0	0	.	.	.	rs753170536	2.16e-05	0.0002	1.941e-05	2.38e-05	4.687e-05	1.548e-05	1.349e-05	1.594e-05	1.051e-05	3.01e-05	4.543e-05	0	0	1.904e-05	0	1.927e-05	3.37e-05	4.687e-05	3.365e-05	0.0001	5.26e-05	1.378e-05	9.802e-05	1.284e-05	8.15e-06	3.284e-05	1.938e-05	9.802e-05	0	0	0	0	0	0	1.511e-05	0	0	1.0	0.00964	T	0.573	0.08715	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.73	0.00718	T	1.38	0.00857	N	0.059	0.04426	-0.9366	0.43149	T	0.001	0.00378	T	9	0.023357421	0.00609	T	0.001147	0.01434	T	0.014	0.01968	0.35	0.34760	0.12205267543	0.11705	0.03264276369458457	0.03212	1.93871876743	0.93220	0.327257335186	0.14520	T	0.001399	0.00865	T	-0.474619	0.00796	T	-0.734262	0.04137	T	0.0274483388068723	0.01609	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.08754	B	.;.	.;.	0.327897	0.07020	3.580	0.21825878329223575	0.00850	0.00013	0.00170	N	AEFBI	0.013717	0.00192	N	-1.7759001691404	0.00606	0.0261499	-1.79421127190689	0.00778	0.03469607	1.85822177357133E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-6.75E-4	0.13359	-0.508000	0.06426	.	.	-1.225000	0.01333	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4246:0.3291:0.2463	2.428	0.04193	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	1828.11	39	chr19	54775427	.	G	C	1828.11	.	AC=4;AF=0.095;AN=42;BaseQRankSum=2.30;DP=5424;ExcessHet=0.6776;FS=7.082;InbreedingCoeff=-0.1085;MLEAC=4;MLEAF=0.095;MQ=56.78;MQRankSum=-1.042e+01;QD=1.12;ReadPosRankSum=0.317;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1365	17	0	4	0
chr19	54775428	54775428	T	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.T634C:p.S212P	.	.	426	994	102	0	0	102	0.0488038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.93	T	0.002	B	0.0	B	.	.	1.000	N	-1.22	N	5.92	T	-0.954	T	0.001	T	0.297	-2.721	0	-0.052	-0.373	-0.293	5.420	0.041	0.00119730649929	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219946054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.693	0.04643	T	1.0	0.01155	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.92	0.00621	T	4.32	0.00042	N	0.054	0.03841	-0.9543	0.40221	T	0.001	0.00318	T	9	0.048239112	0.04248	T	0.001197	0.01558	T	0.041	0.10877	0.381	0.39807	0.124217242631	0.12060	0.09862332896415132	0.09793	3.5385108973	0.99787	0.337671220303	0.16090	T	0.020959	0.16408	T	-0.296781	0.08966	T	-0.664082	0.07993	T	0.037209109262974	0.03193	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00234	B	.;.	.;.	-0.377649	0.02298	0.242	0.20061086774987852	0.00705	0.00014	0.00181	N	AEFBI	0.017768	0.00489	N	-2.16889315936069	0.00090	0.003848594	-2.13850442775353	0.00153	0.006750525	1.85327816143771E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.0517	0.13155	0.152000	0.16120	.	.	-2.805000	0.00184	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7488:0.0:0.2512	5.420	0.15691	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	1833.97	39	chr19	54775428	.	T	C	1833.97	.	AC=4;AF=0.095;AN=42;BaseQRankSum=3.00;DP=5430;ExcessHet=0.6776;FS=7.082;InbreedingCoeff=-0.1062;MLEAC=4;MLEAF=0.095;MQ=56.76;MQRankSum=-1.055e+01;QD=1.12;ReadPosRankSum=0.195;SOR=0.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1365	17	0	4	0
chr19	54804844	54804844	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A128G:p.Q43R	.	.	401	1030	89	2	0	93	0.0431955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.006	B	0.024	B	0.135	U	1.000	N	0.395	N	2.65	T	-1.000	T	0.021	T	0.122	-0.252	2.787	-1.57	-0.635	-1.621	2.076	0.004	0.00113660302036	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs867586202	1.369e-06	2.737e-06	0	2.752e-06	2.995e-05	2.3e-07	9e-08	.	.	2.995e-05	0	0	0	0	0	0	0	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.23997	T	0.596	0.08052	T	0.005	0.12996	B	0.004	0.14941	B	0.135009	0.02839	U	2.391850	1	0.08975	N	0.575	0.15311	N	2.65	0.12676	T	-1.42	0.38540	N	0.098	0.10769	-1.0000	0.29917	T	0.021	0.08778	T	10	0.07379338	0.11196	T	0.001137	0.01410	T	0.004	0.00165	.	.	0.117191471859	0.11215	0.2764269249833639	0.27555	1.63837144597	0.89330	.	.	.	.	.	.	-0.375957	0.03303	T	-0.777812	0.02520	T	0.0943192406486319	0.11720	T	.	.	.	.	.	.	.	.	.	.	.	-6.927	0.54645	T	.	.	0.067	0.04002	B	.;.;.;.	.;.;.;.	-1.101816	0.00638	0.017	0.44240031913180755	0.03387	0.00284	0.01530	N	AEFDBI	0.054807	0.09996	N	-1.5917883983119	0.01306	0.05686907	-1.68956066485271	0.01184	0.05329264	2.77527207762171E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.14	-1.57	0.08055	-2.911000	0.00765	.	.	-4.062000	0.00044	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.404:0.3002:0.0:0.2958	2.076	0.03404	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.119	513.42	37	chr19	54804844	.	A	G	513.42	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-5.090e-01;DP=1526;ExcessHet=1.1607;FS=2.426;InbreedingCoeff=-0.1348;MLEAC=5;MLEAF=0.119;MQ=59.00;MQRankSum=-1.152e+01;QD=0.68;ReadPosRankSum=-8.850e-01;SOR=1.158	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530	16	0	5	0
chr19	54804865	54804865	G	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G149T:p.R50L	.	.	399	1022	98	3	0	104	0.0484171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.018	B	0.055	B	0.007	U	1.000	N	0.995	L	2.62	T	-0.999	T	0.029	T	0.188	0.031	4.173	-2.81	-1.080	-0.485	5.745	0.028	0.0010606096064	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs377230503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.578e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.129	0.26852	T	0.099	0.43344	T	0.001	0.17573	B	0.009	0.25828	B	0.006549	0.01130	U	4.963860	1	0.08975	N	0.87	0.21467	L	2.62	0.12988	T	-3.67	0.70553	D	0.243	0.32259	-0.9992	0.30143	T	0.029	0.12453	T	10	0.2224595	0.38999	T	0.001061	0.01215	T	0.028	0.06331	.	.	0.110392049598	0.10638	0.28005680441547837	0.27918	1.86795582778	0.92482	.	.	.	.	.	.	-0.326378	0.06390	T	-0.706596	0.05473	T	0.0639145414373501	0.07769	T	.	.	.	.	.	.	.	.	.	.	.	-8.044	0.61370	D	.	.	0.138	0.32756	B	.;.;.;.	.;.;.;.	0.035535	0.04534	1.227	0.73877348709050461	0.10488	0.00388	0.01954	N	AEFDBI	0.065265	0.12721	N	-1.54790257383302	0.01547	0.06756762	-1.67935926748713	0.01231	0.05548239	8.43516041031511E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.41	-2.81	0.05459	-0.685000	0.05269	.	.	-3.641000	0.00069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6012:0.0:0.3988:0.0	5.745	0.17382	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	719.03	37	chr19	54804865	.	G	T	719.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=2.45;DP=1630;ExcessHet=1.7912;FS=7.115;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=58.85;MQRankSum=-1.237e+01;QD=0.67;ReadPosRankSum=1.33;SOR=1.603	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530	15	0	6	0
chr19	54804871	54804871	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A155G:p.H52R	.	.	410	1016	93	3	0	99	0.0464571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.016	B	0.014	B	.	.	1.000	N	-0.165	N	2.75	T	-0.922	T	0.011	T	0.325	-2.184	0.005	1.42	0.897	-0.253	4.935	0.050	0.000703869014878	.	.	.	.	.	.	.	.	.	.	.	.	.	rs752329065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.314e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.992	0.03949	T	0.621	0.07419	T	0.003	0.12996	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0.17	0.09006	N	2.75	0.11622	T	-3.37	0.67477	D	0.076	0.06059	-0.9219	0.45293	T	0.011	0.04321	T	9	0.061050594	0.07594	T	7.04E-4	0.00435	T	0.050	0.13987	.	.	0.305252298933	0.30134	0.14574877287000448	0.14497	1.80914359211	0.91782	.	.	.	.	.	.	-0.282495	0.10405	T	-0.643561	0.09412	T	0.0325404564850766	0.02395	T	.	.	.	.	.	.	.	.	.	.	.	-6.886	0.53196	T	.	.	0.100	0.18746	B	.;.;.;.	.;.;.;.	0.039253	0.04558	1.245	0.55635480641941515	0.05383	0.00516	0.02410	N	AEFDBI	0.041908	0.06434	N	-1.27066159650474	0.04033	0.1813008	-1.2984096394167	0.04452	0.2100502	3.65028250344946E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.504000	0.06456	.	.	-0.282000	0.06404	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	1.0:0.0:0.0:0.0	4.935	0.13288	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	605.02	37	chr19	54804871	.	A	G	605.02	.	AC=6;AF=0.143;AN=42;BaseQRankSum=0.129;DP=1668;ExcessHet=1.7912;FS=5.545;InbreedingCoeff=-0.1665;MLEAC=6;MLEAF=0.143;MQ=58.89;MQRankSum=-1.263e+01;QD=0.54;ReadPosRankSum=1.81;SOR=1.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530	15	0	6	0
chr19	54804874	54804874	A	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A158C:p.Y53S	.	.	418	512	448	92	52	684	0.381643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.009	B	0.008	B	.	.	1.000	N	-1.815	N	2.81	T	-0.959	T	0.005	T	0.163	-2.574	0.003	-2.83	-0.824	-0.505	4.673	0.064	0.00123731148339	.	.	.	.	.	.	.	.	.	.	.	.	.	rs618835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.03314	T	0.009	0.15093	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-2.005	0.00192	N	2.81	0.10975	T	-0.12	0.17003	N	0.094	0.07398	-0.9592	0.39330	T	0.005	0.01688	T	9	0.038850784	0.02333	T	0.001237	0.01658	T	0.064	0.18567	.	.	0.0934897674506	0.08844	0.30959537037651635	0.30872	2.03392677507	0.94150	.	.	.	.	.	.	-0.349958	0.04730	T	-0.740467	0.03871	T	0.0372104795728204	0.03193	T	.	.	.	.	.	.	.	.	.	.	.	-4.582	0.31945	T	.	.	0.096	0.15385	B	.;.;.;.	.;.;.;.	-1.038539	0.00718	0.021	0.36897408776256096	0.02400	0.00044	0.00357	N	AEFDBI	0.024914	0.01621	N	-2.04652454016145	0.00168	0.00718835	-2.03550390589525	0.00257	0.01134907	6.47260531587824E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.100000	0.03450	.	.	-3.205000	0.00110	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2532:0.5344:0.2124:0.0	4.673	0.12084	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	33079.42	37	chr19	54804874	.	A	G,C	33079.42	.	AC=12,3;AF=0.286,0.071;AN=42;BaseQRankSum=1.71;DP=3078;ExcessHet=3.1640;FS=0.523;InbreedingCoeff=-0.1340;MLEAC=12,3;MLEAF=0.286,0.071;MQ=59.39;MQRankSum=-3.020e+00;QD=12.12;ReadPosRankSum=0.071;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0,0:40:99:.:.:0,102,1530,102,1530,1530	8	1	9	0
chr19	54804880	54804880	G	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G164T:p.R55L	.	.	409	1018	92	3	0	98	0.0459231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.001	B	0.003	B	0.331	N	1.000	N	-0.67	N	5.87	T	-0.912	T	0.001	T	0.153	-2.839	0	-2.83	-4.059	-2.987	0.680	0.011	0.000590234751616	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200970576	6.845e-07	2.052e-06	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.707	0.14075	T	0.0	0.02946	B	0.003	0.08700	B	0.330964	0.04130	N	1.871750	1	0.08975	N	-0.59	0.02258	N	2.55	0.13795	T	-5.64	0.86914	D	0.096	0.07673	-0.9120	0.46607	T	0.001	0.00408	T	10	0.036497056	0.01952	T	5.9E-4	0.00260	T	0.011	0.01250	.	.	0.043077524339	0.03247	0.18736213989536712	0.18654	1.8200784132	0.91936	.	.	.	.	.	.	-0.317922	0.07070	T	-0.69445	0.06134	T	0.176434934139252	0.19007	T	.	.	.	.	.	.	.	.	.	.	.	-3.794	0.20715	T	.	.	0.105	0.22391	B	.;.;.;.	.;.;.;.	-2.096588	0.00081	0.001	0.52377389892480175	0.04736	0.00034	0.00302	N	AEFDBI	0.026426	0.01982	N	-2.4206702032517	0.00024	0.001049992	-2.48006166947468	0.00026	0.001135847	0.181087630750471	0.17872	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-4.363000	0.00281	.	.	-4.734000	0.00021	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3206:0.1414:0.3286:0.2094	0.680	0.00818	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.119	464.49	37	chr19	54804880	.	G	T	464.49	.	AC=5;AF=0.119;AN=42;BaseQRankSum=2.66;DP=2756;ExcessHet=1.1607;FS=5.535;InbreedingCoeff=-0.1357;MLEAC=5;MLEAF=0.119;MQ=58.94;MQRankSum=-1.298e+01;QD=0.50;ReadPosRankSum=2.90;SOR=1.647	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530	16	0	5	0
chr19	54804889	54804889	A	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A173C:p.N58T	.	.	410	1009	100	3	0	106	0.0499058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.001	B	0.005	B	0.568	U	1.000	N	0.865	L	2.81	T	-0.967	T	0.015	T	0.067	-0.363	2.287	-2.83	-1.188	-0.877	0.111	0.083	0.00160012747995	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252008475	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.28	0.17643	T	0.421	0.18395	T	0.0	0.02946	B	0.004	0.10090	B	0.568075	0.11267	U	0.710467	1	0.08975	N	1.085	0.27262	L	2.81	0.10975	T	-1.31	0.33798	N	0.161	0.16864	-0.9669	0.37834	T	0.015	0.06090	T	10	0.07299557	0.10970	T	0.002	0.02574	T	0.083	0.24192	.	.	0.168254554758	0.16434	0.1070846243563384	0.10638	1.5630790888	0.88064	.	.	.	.	.	.	-0.408466	0.02035	T	-0.824509	0.01363	T	0.146632224321365	0.16832	T	.	.	.	.	.	.	.	.	.	.	.	-6.799	0.52552	T	.	.	0.159	0.35849	B	.;.;.;.	.;.;.;.	-0.436821	0.02079	0.193	0.48969850087904854	0.04130	0.00254	0.01397	N	AEFDBI	0.042854	0.06702	N	-1.61109278381861	0.01210	0.05261721	-1.73396012362405	0.00995	0.04459112	9.2797908283636E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.660000	0.02075	.	.	-3.494000	0.00081	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3389:0.242:0.1805:0.2386	0.111	0.00052	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.119	446.36	37	chr19	54804889	.	A	C	446.36	.	AC=5;AF=0.119;AN=42;BaseQRankSum=0.433;DP=2783;ExcessHet=1.1607;FS=5.552;InbreedingCoeff=-0.1320;MLEAC=5;MLEAF=0.119;MQ=58.94;MQRankSum=-1.310e+01;QD=0.47;ReadPosRankSum=3.56;SOR=1.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530	16	0	5	0
chr19	54804898	54804898	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C182G:p.T61R	.	.	407	1007	105	3	0	111	0.0522353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.879	P	0.624	P	0.370	N	1.000	N	0.82	L	2.61	T	-1.047	T	0.034	T	0.121	-1.268	0.045	-2.83	-2.561	-4.420	4.699	0.004	0.000577800184532	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1347429978	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.156	0.30235	T	0.417	0.14241	T	0.008	0.14655	B	0.014	0.16862	B	0.370126	0.04357	N	1.761550	1	0.08975	N	0.19	0.09125	N	2.61	0.13095	T	-0.99	0.33798	N	0.166	0.17553	-1.0466	0.15361	T	0.034	0.14726	T	10	0.06646973	0.09122	T	5.78E-4	0.00246	T	0.004	0.00165	.	.	0.123314135267	0.11883	0.2663305671272793	0.26546	1.74321032565	0.90897	.	.	.	.	.	.	-0.374164	0.03389	T	-0.775237	0.02600	T	0.172755304063972	0.18765	T	.	.	.	.	.	.	.	.	.	.	.	-4.633	0.32583	T	.	.	0.133	0.28807	B	.;.;.;.	.;.;.;.	-1.551279	0.00265	0.004	0.59469541163751893	0.06232	0.00075	0.00520	N	AEFDBI	0.026301	0.01950	N	-1.68316153543223	0.00903	0.03908699	-1.84995237698743	0.00612	0.0271986	3.44450744240821E-4	0.06626	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-5.169000	0.00171	.	.	-4.106000	0.00042	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2563:0.3734:0.3703:0.0	4.699	0.12201	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	783.55	37	chr19	54804898	.	C	G	783.55	.	AC=6;AF=0.143;AN=42;BaseQRankSum=2.74;DP=2825;ExcessHet=1.7912;FS=7.378;InbreedingCoeff=-0.1525;MLEAC=5;MLEAF=0.119;MQ=58.83;MQRankSum=-1.325e+01;QD=0.63;ReadPosRankSum=3.30;SOR=1.817	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530	15	0	6	0
chr19	54804909	54804909	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A193G:p.K65E	.	.	408	993	118	3	0	124	0.0587678	.	.	2687379	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.002	B	0.004	B	0.812	N	1.000	N	-2.29	N	6.0	T	-0.932	T	0.001	T	0.074	-2.172	0.005	-1.41	-0.207	0.049	3.979	0.028	0.000710582739585	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433721372	2.738e-06	4.105e-06	0	5.504e-06	2.237e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	0	2.237e-05	3.843e-05	0	0	0	1.799e-06	0	0	1.988e-05	4.605e-05	1.295e-05	2.717e-05	0.0001	5.29e-06	2.47e-06	2.279e-05	9.14e-06	0	0	0.0001	0	0	0	0	0	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.812499	0.09241	N	0.855387	1	0.08975	N	-2.415	0.00072	N	6.0	0.00603	T	1.89	0.00694	N	0.066	0.07262	-0.9319	0.43859	T	0.001	0.00188	T	10	0.020792723	0.00485	T	7.11E-4	0.00454	T	0.028	0.06331	.	.	0.102598925029	0.09809	0.08210962773506171	0.08145	2.0043789819	0.93871	.	.	.	.	.	.	-0.398459	0.02370	T	-0.810135	0.01662	T	0.0787104400289306	0.09821	T	.	.	.	.	.	.	.	.	.	.	.	1.118	0.00118	T	.	.	0.052	0.01449	B	.;.;.;.	.;.;.;.	-0.896903	0.00931	0.035	0.38092024155450582	0.02549	0.00009	0.00143	N	AEFBI	0.020365	0.00798	N	-1.95943119732616	0.00258	0.01107597	-1.91051840260318	0.00467	0.02066344	2.13546506143977E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-1.41	0.08473	0.022000	0.13402	.	.	-1.236000	0.01320	0.005000	0.17040	0.000000	0.08366	0.000000	0.00833	0.4688:0.0:0.5312:0.0	3.979	0.08979	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	1459.03	37	chr19	54804909	.	A	G	1459.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=2.63;DP=2839;ExcessHet=1.7912;FS=11.097;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=58.65;MQRankSum=-1.377e+01;QD=1.16;ReadPosRankSum=1.42;SOR=1.896	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530	15	0	6	0
chr19	54804943	54804943	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G227A:p.R76K	.	.	415	972	132	3	0	138	0.0662824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.0	B	0.003	B	0.590	N	1.000	N	1.44	L	2.74	T	-0.969	T	0.025	T	0.171	-0.507	1.679	-2.83	-0.790	-3.738	0.540	0.022	0.000742101611331	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1258790404	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	3.948e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.706	0.15201	T	0.895	0.03223	T	0.0	0.02946	B	0.001	0.08700	B	0.590161	0.05587	N	1.384300	1	0.08975	N	1.445	0.36358	L	2.74	0.11730	T	-0.98	0.27259	N	0.051	0.07535	-0.9692	0.37366	T	0.025	0.10733	T	10	0.066293925	0.09070	T	7.42E-4	0.00510	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.10200965388074774	0.10131	1.54987763219	0.87883	.	.	.	.	.	.	-0.328421	0.06231	T	-0.70953	0.05319	T	0.0564412906346426	0.06597	T	.	.	.	.	.	.	.	.	.	.	.	-7.075	0.54580	T	.	.	0.117	0.27968	B	.;.;.;.	.;.;.;.	-0.709399	0.01299	0.070	0.67373079492482224	0.08335	0.00141	0.00861	N	AEFBI	0.044050	0.07041	N	-1.32507690532281	0.03391	0.1513701	-1.48749976679391	0.02446	0.1125302	6.30285219020309E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.506000	0.02375	.	.	-0.368000	0.05462	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1859:0.238:0.3354:0.2407	0.540	0.00600	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	2793.02	37	chr19	54804943	.	G	A	2793.02	.	AC=6;AF=0.143;AN=42;BaseQRankSum=1.64;DP=2966;ExcessHet=1.7912;FS=4.369;InbreedingCoeff=-0.1666;MLEAC=6;MLEAF=0.143;MQ=58.46;MQRankSum=-1.419e+01;QD=2.03;ReadPosRankSum=-1.957e+00;SOR=1.396	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530	15	0	6	0
chr19	54804956	54804956	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C240G:p.N80K	.	.	414	957	149	2	0	153	0.0740203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.005	B	0.011	B	.	.	1.000	N	0.255	N	5.79	T	-0.943	T	0.002	T	0.052	-1.471	0.018	-2.83	-0.914	-2.611	4.378	0.003	0.000820155030123	.	.	3.423e-05	0.0003	0	0	0	0	0	0	.	.	.	rs762567496	6.845e-07	4.789e-06	1.362e-06	0	2.995e-05	0	0	.	.	2.995e-05	0	0	0	0	0	0	0	0	1.99e-05	0.0001	2.59e-05	1.36e-05	7.371e-05	5.29e-06	2.47e-06	1.954e-05	1.042e-05	7.371e-05	0	0	0	0	0	0	0	0	0	0.412	0.13699	T	0.845	0.05146	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-0.44	0.02835	N	5.79	0.00674	T	-1.03	0.27052	N	0.095	0.07535	-0.9430	0.42137	T	0.002	0.00556	T	9	0.044601202	0.03435	T	8.2E-4	0.00670	T	0.003	0.00094	.	.	0.128874641272	0.12493	0.10159306631719821	0.10090	1.72089044569	0.90581	.	.	.	.	.	.	-0.575811	0.00204	T	-0.864535	0.00796	T	0.016738042965368	0.00430	T	.	.	.	.	.	.	.	.	.	.	.	-3.17	0.12117	T	.	.	0.179	0.45895	B	.;.;.;.	.;.;.;.	-1.083170	0.00661	0.018	0.50719520210572711	0.04434	0.00148	0.00897	N	AEFBI	0.040604	0.06062	N	-1.66740233317036	0.00964	0.04176982	-1.76943638965084	0.00862	0.03853214	7.24329605389925E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-3.415000	0.00532	.	.	-3.993000	0.00048	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2368:0.2927:0.4706:0.0	4.378	0.10712	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	3332.55	37	chr19	54804956	.	C	G	3332.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=0.553;DP=3253;ExcessHet=2.5830;FS=4.420;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.57;MQRankSum=-1.550e+01;QD=1.97;ReadPosRankSum=-2.461e+00;SOR=1.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530	14	0	7	0
chr19	54804960	54804960	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T244A:p.F82I	.	.	414	959	147	2	0	151	0.0729821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.988	D	0.749	P	.	.	1.000	N	2.795	M	5.26	T	-1.036	T	0.009	T	0.293	1.165	9.742	-2.83	-1.100	0.423	0.084	0.125	0.00121079333076	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369685826	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.131	0.27663	T	0.066	0.49942	T	0.835	0.57185	P	0.439	0.51840	B	.	.	.	.	1	0.08975	N	2.84	0.82582	M	5.26	0.01121	T	-4.07	0.74661	D	0.527	0.55626	-1.0358	0.18606	T	0.009	0.03140	T	9	0.26590294	0.44090	T	0.001211	0.01583	T	0.125	0.34456	.	.	0.184605227958	0.18053	0.26410585650973184	0.26323	2.55136621799	0.97893	.	.	.	.	.	.	-0.229695	0.16690	T	-0.567717	0.15659	T	0.301442474126816	0.25063	T	.	.	.	.	.	.	.	.	.	.	.	-10.577	0.77288	D	.	.	0.167	0.46813	B	.;.;.;.	.;.;.;.	1.636286	0.20887	14.96	0.92714287306157606	0.22209	0.01840	0.05702	N	AEFBI	0.038078	0.05336	N	-0.973329979841069	0.09176	0.4332079	-1.27610017222819	0.04756	0.2250723	8.7197982285104E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	0.236000	0.17745	.	.	-1.223000	0.01335	0.008000	0.17931	0.000000	0.08366	0.000000	0.00833	0.2444:0.1891:0.2473:0.3192	0.084	0.00031	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	3498.55	37	chr19	54804960	.	T	A	3498.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-4.890e-01;DP=3264;ExcessHet=2.5830;FS=5.763;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.64;MQRankSum=-1.493e+01;QD=2.04;ReadPosRankSum=-2.172e+00;SOR=1.354	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530	14	0	7	0
chr19	54804968	54804968	T	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T252G:p.I84M	.	.	417	956	147	2	0	151	0.0731944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.687	P	0.812	P	.	.	1.000	N	-0.13	N	5.18	T	-0.933	T	0.004	T	0.218	-0.371	2.254	-2.83	-2.207	-1.190	4.771	0.045	0.000519273134144	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325992067	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.437	0.14400	T	0.374	0.18395	T	0.42	0.35330	B	0.45	0.46092	P	.	.	.	.	1	0.08975	N	-0.585	0.02270	N	5.18	0.01178	T	1.07	0.01509	N	0.251	0.28381	-0.9332	0.43665	T	0.004	0.01435	T	9	0.07691896	0.12074	T	5.19E-4	0.00174	T	0.045	0.12272	.	.	0.117191471859	0.11215	0.08007400719172995	0.07942	1.80411115478	0.91699	.	.	.	.	.	.	-0.337573	0.05559	T	-0.722677	0.04667	T	0.127119965554841	0.15113	T	.	.	.	.	.	.	.	.	.	.	.	-6.241	0.49275	T	.	.	0.117	0.24666	B	.;.;.;.	.;.;.;.	-0.141825	0.03399	0.614	0.65607078407769726	0.07820	0.00065	0.00468	N	AEFBI	0.020411	0.00803	N	-1.5866963148947	0.01332	0.0580352	-1.74726134577514	0.00943	0.042239	1.02835550443145E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.147000	0.03298	.	.	-3.828000	0.00057	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1793:0.4034:0.4173	4.771	0.12528	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	3900.55	37	chr19	54804968	.	T	G	3900.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=1.04;DP=3302;ExcessHet=2.5830;FS=5.736;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.65;MQRankSum=-1.402e+01;QD=2.23;ReadPosRankSum=-2.200e+00;SOR=1.454	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530	14	0	7	0
chr19	54804969	54804969	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A253G:p.S85G	.	.	417	954	149	2	0	153	0.0742358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.004	B	.	.	1.000	N	-1.605	N	2.6	T	-0.984	T	0.007	T	0.077	-2.734	0	-2.83	-1.548	-0.075	7.112	0.027	0.000781134784742	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1442335978	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-1.715	0.00343	N	2.6	0.13204	T	2.66	0.00310	N	0.108	0.09349	-0.9842	0.34022	T	0.007	0.02439	T	9	0.02619794	0.00792	T	7.81E-4	0.00588	T	0.027	0.05988	.	.	0.158540857583	0.15491	0.07738362904380575	0.07674	1.4201359302	0.85604	.	.	.	.	.	.	-0.401399	0.02267	T	-0.814358	0.01570	T	0.0549007298840621	0.06341	T	.	.	.	.	.	.	.	.	.	.	.	0.541	0.00210	T	.	.	0.074	0.05274	B	.;.;.;.	.;.;.;.	-0.420405	0.02138	0.205	0.22000706786361646	0.00865	0.00040	0.00335	N	AEFBI	0.020537	0.00821	N	-2.07894454137503	0.00142	0.006092453	-2.08140116520627	0.00204	0.009005726	2.05305321022085E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-0.375000	0.07532	.	.	-1.077000	0.01579	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4285:0.0:0.5715:0.0	7.112	0.24570	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	3886.55	37	chr19	54804969	.	A	G	3886.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-3.400e-01;DP=3301;ExcessHet=2.5830;FS=5.736;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.65;MQRankSum=-1.405e+01;QD=2.23;ReadPosRankSum=-2.321e+00;SOR=1.454	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530	14	0	7	0
chr19	54805015	54805015	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T299C:p.F100S	.	.	419	776	326	1	0	328	0.174468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.008	B	.	.	1.000	N	-1.335	N	5.92	T	-0.965	T	0.001	T	0.053	-2.647	0	-2.83	-1.271	-4.121	6.440	0.013	0.0010106159629	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796753843	2.74e-06	0.0001	2.726e-06	2.755e-06	2.7e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	1.885e-05	0	2.7e-06	0	0	5.341e-05	0.0027	7.827e-05	2.735e-05	0.0002	2.593e-05	1.856e-05	1.985e-05	1.133e-05	4.936e-05	0	6.628e-05	0	0	0	0	5.938e-05	0	0.0002	1.0	0.00964	T	0.435	0.14369	T	0.007	0.14184	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.315	0.00701	N	5.92	0.00621	T	2.62	0.00266	N	0.075	0.04913	-0.9650	0.38210	T	0.001	0.00287	T	9	0.026813924	0.00840	T	0.001011	0.01096	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.08146711258010714	0.08081	2.36001356848	0.96855	.	.	.	.	.	.	-0.43666	0.01353	T	-0.865008	0.00791	T	0.061946985667245	0.07471	T	.	.	.	.	.	.	.	.	.	.	.	1.914	0.00057	T	.	.	0.189	0.46085	B	.;.;.;.	.;.;.;.	-1.096354	0.00644	0.018	0.28837687520548816	0.01500	0.00083	0.00561	N	AEFDBI	0.025271	0.01704	N	-2.14306535979238	0.00103	0.00439903	-2.15844511365444	0.00139	0.006093682	1.25218217171751E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-6.340000	0.00086	.	.	-1.208000	0.01354	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5038:0.0:0.4962	6.440	0.21047	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	8919.01	37	chr19	54805015	.	T	C	8919.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-3.270e-01;DP=3894;ExcessHet=4.7172;FS=2.661;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=59.09;MQRankSum=-1.185e+01;QD=3.49;ReadPosRankSum=0.485;SOR=1.069	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530	12	0	9	0
chr19	54805016	54805016	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T300A:p.F100L	.	.	420	774	327	1	0	329	0.17528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.542	P	0.333	B	.	.	1.000	N	1.725	L	5.83	T	-0.970	T	0.003	T	0.121	1.105	9.508	-2.7	-0.974	-0.428	2.255	0.023	0.000772524294317	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796792356	1.37e-06	0.0001	0	2.755e-06	8.999e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.887e-05	0	8.999e-07	0	0	5.338e-05	0.0027	7.825e-05	2.733e-05	0.0002	2.592e-05	1.855e-05	1.985e-05	1.133e-05	4.936e-05	0	6.625e-05	0	0	0	0	5.936e-05	0	0.0002	0.022	0.48642	D	0.648	0.06903	T	0.397	0.34783	B	0.333	0.42166	B	.	.	.	.	1	0.08975	N	1.665	0.42610	L	5.83	0.00652	T	-1.05	0.29933	N	0.118	0.11769	-0.9697	0.37262	T	0.003	0.01059	T	9	0.07033512	0.10217	T	7.73E-4	0.00568	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.06693528354683899	0.06631	1.94744629028	0.93356	.	.	.	.	.	.	-0.343146	0.05173	T	-0.730682	0.04297	T	0.170065227283001	0.18584	T	.	.	.	.	.	.	.	.	.	.	.	-3.333	0.14166	T	.	.	0.864	0.81864	P	.;.;.;.	.;.;.;.	0.844460	0.12165	8.711	0.72763699724305153	0.10087	0.00466	0.02241	N	AEFDBI	0.041762	0.06392	N	-1.34932054137565	0.03132	0.1394129	-1.54047774464294	0.02042	0.09334472	7.01667449997308E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.7	0.05651	-1.755000	0.01913	.	.	-1.223000	0.01335	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.256:0.3803:0.0:0.3637	2.255	0.03803	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	8818.01	37	chr19	54805016	.	T	A	8818.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-7.130e-01;DP=3903;ExcessHet=4.7172;FS=3.895;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=59.09;MQRankSum=-1.197e+01;QD=3.42;ReadPosRankSum=0.322;SOR=1.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530	12	0	9	0
chr19	54805024	54805024	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A308G:p.H103R	.	.	423	744	354	1	0	356	0.193059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.025	B	0.014	B	0.900	U	1.000	N	1.445	L	5.78	T	-0.926	T	0.003	T	0.132	0.330	5.790	-0.942	-0.378	-0.780	4.279	0.022	0.00119188927627	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs796878779	3.426e-06	0.0002	4.09e-06	2.756e-06	1.8e-06	1e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	5.683e-05	0	1.8e-06	0	0	4.7e-05	0.0029	5.246e-05	4.127e-05	0.0002	2.151e-05	1.554e-05	1.981e-05	1.049e-05	7.471e-05	0	6.676e-05	0	0	0	0	2.979e-05	0	0.0002	0.057	0.37966	T	0.101	0.38596	T	0.009	0.15093	B	0.006	0.12133	B	0.900041	0.07350	U	1.083630	1	0.08975	N	1.245	0.31408	L	5.78	0.00681	T	-5.95	0.89152	D	0.045	0.09066	-0.9256	0.44772	T	0.003	0.00994	T	10	0.102012426	0.18672	T	0.001192	0.01533	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.03833865634309133	0.03779	1.81219128519	0.91816	.	.	.	.	.	.	-0.350096	0.04721	T	-0.740665	0.03863	T	0.0647783944973474	0.07899	T	.	.	.	.	.	.	.	.	.	.	.	-4.915	0.35903	T	.	.	0.097	0.17060	B	.;.;.;.	.;.;.;.	-0.151121	0.03348	0.592	0.69629908088386028	0.09034	0.00308	0.01632	N	AEFDBI	0.034642	0.04326	N	-1.13086835408799	0.06101	0.2799287	-1.26988241760385	0.04843	0.2294386	2.01186922009763E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-0.942	0.09869	-3.960000	0.00366	.	.	0.517000	0.23534	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5371:0.0:0.4629:0.0	4.279	0.10270	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2381	10370.19	37	chr19	54805024	.	A	G	10370.19	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-4.070e-01;DP=4027;ExcessHet=6.1002;FS=3.749;InbreedingCoeff=-0.2989;MLEAC=9;MLEAF=0.214;MQ=59.11;MQRankSum=-1.124e+01;QD=3.60;ReadPosRankSum=0.390;SOR=1.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530	11	0	10	0
chr19	54805033	54805033	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C317T:p.T106I	.	.	424	690	407	1	0	409	0.228619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.004	B	0.005	B	0.591	U	1.000	N	1.77	L	2.55	T	-0.987	T	0.033	T	0.099	-0.227	2.901	-2.28	-1.442	-2.050	6.335	0.024	0.000700822115211	.	.	.	.	.	.	.	.	.	.	0.0009605	25	26028	rs796513163	7.541e-06	0.0002	2.728e-06	1.241e-05	2.239e-05	4.05e-06	2.96e-06	8.4e-07	5.7e-07	0	2.239e-05	3.862e-05	0	7.619e-05	0	3.601e-06	0	1.166e-05	3.338e-05	0.0029	5.221e-05	1.366e-05	0.0006	1.276e-05	8.09e-06	0.0002	9.396e-05	2.468e-05	0	0	0	0	0	0	1.485e-05	0	0.0006	0.142	0.25768	T	0.321	0.19073	T	0.003	0.11197	B	0.004	0.10090	B	0.591279	0.05593	U	1.381260	1	0.08975	N	2	0.54354	M	2.55	0.13795	T	-2.95	0.63901	D	0.118	0.10769	-0.9874	0.33249	T	0.033	0.14334	T	10	0.060203582	0.07359	T	7.01E-4	0.00435	T	0.024	0.04979	.	.	0.0675242888579	0.06100	0.04331565967951002	0.04276	1.63047291344	0.89215	.	.	.	.	.	.	-0.366031	0.03800	T	-0.763555	0.02987	T	0.0524682142329862	0.05929	T	.	.	.	.	.	.	.	.	.	.	.	-9.207	0.69223	D	.	.	0.216	0.46273	B	.;.;.;.	.;.;.;.	0.032458	0.04511	1.213	0.83014543442455713	0.14496	0.00242	0.01343	N	AEFDBI	0.041998	0.06460	N	-1.24619832928253	0.04350	0.1961546	-1.41778311686848	0.03074	0.1426955	1.1506097044956E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-2.28	0.06438	-1.970000	0.01595	.	.	-0.553000	0.04888	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.6794:0.3206:0.0:0.0	6.335	0.20497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2857	11569.11	37	chr19	54805033	.	C	T	11569.11	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.870e-01;DP=4523;ExcessHet=9.6308;FS=5.420;InbreedingCoeff=-0.4114;MLEAC=12;MLEAF=0.286;MQ=59.15;MQRankSum=-1.246e+01;QD=3.36;ReadPosRankSum=-4.370e-01;SOR=1.113	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530	9	0	12	0
chr19	54805068	54805068	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A352G:p.M118V	.	.	425	605	491	1	0	493	0.289489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.011	B	0.009	B	0.168	N	1.000	N	0.08	N	2.74	T	-1.017	T	0.015	T	0.072	-2.393	0.003	-0.275	-0.112	-0.220	3.173	0.014	0.000896150500463	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs377158496	7.372e-05	0.0003	4.11e-05	0.0001	0.0004	6.225e-05	5.782e-05	6.542e-05	6.1e-05	0	0	3.935e-05	7.58e-05	0.0001	0.0004	7.939e-05	8.332e-05	3.521e-05	1.994e-05	0.0009	1.3e-05	2.72e-05	0.0004	5.3e-06	2.47e-06	7.542e-05	3.122e-05	0	0	0	0	0	9.517e-05	0	0	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.009	0.15093	B	0.004	0.10090	B	0.167963	0.03088	N	2.088310	1	0.08975	N	-0.475	0.02701	N	2.74	0.11730	T	0.19	0.06868	N	0.074	0.06587	-1.0167	0.24787	T	0.015	0.06282	T	10	0.027635008	0.00906	T	8.96E-4	0.00822	T	0.014	0.01968	.	.	0.143184338766	0.13958	0.03977817011760987	0.03923	1.56059685374	0.88033	.	.	.	.	.	.	-0.414852	0.01846	T	-0.833683	0.01198	T	0.0837077051401138	0.10455	T	.	.	.	.	.	.	.	.	.	.	.	-1.865	0.02998	T	.	.	0.077	0.08899	B	.;.;.;.	.;.;.;.	-0.512683	0.01826	0.145	0.81087781055770536	0.13513	0.00133	0.00820	N	AEFDBI	0.025271	0.01704	N	-1.41486537055219	0.02508	0.1108357	-1.45837055724275	0.02695	0.1244398	1.6772618897357E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-0.275	0.12268	-1.056000	0.03600	.	.	-1.196000	0.01368	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.6062:0.0:0.3938:0.0	3.173	0.06167	976	0.04745	Immunoglobulin subtype;Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3421	12807.67	37	chr19	54805068	.	A	G	12807.67	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-1.640e+00;DP=4275;ExcessHet=11.8493;FS=4.752;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.368;MQ=58.95;MQRankSum=-1.149e+01;QD=3.70;ReadPosRankSum=0.620;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530	6	0	13	2
chr19	54805957	54805957	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A368T:p.Y123F	.	.	425	734	362	1	0	364	0.19869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.198	B	0.327	B	.	.	1.000	N	2.125	M	5.76	T	-0.946	T	0.005	T	0.221	0.808	8.245	-0.172	-0.120	0.024	3.728	0.026	0.000412457697702	.	.	.	.	.	.	.	.	.	.	0.0008452	22	26028	rs548305067	6.874e-07	4.789e-06	0	1.382e-06	9.011e-07	0	0	.	.	0	0	0	0	0	0	9.011e-07	0	0	0	2.635e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.083	0.33091	T	0.185	0.45744	T	0.029	0.25941	B	0.11	0.35187	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	5.76	0.00695	T	-2.94	0.62863	D	0.143	0.19055	-0.9456	0.41715	T	0.005	0.01651	T	9	0.09953773	0.18069	T	4.12E-4	0.00078	T	0.026	0.05648	.	.	0.0934897674506	0.08844	0.027781850178691565	0.02728	1.64456428975	0.89413	.	.	.	.	.	.	-0.296197	0.09024	T	-0.663243	0.08049	T	0.040030807459604	0.03696	T	.	.	.	.	.	.	.	.	.	.	.	-6.322	0.59734	T	.	.	0.166	0.39731	B	.;.;.;.;.;.	.;.;.;.;.;.	1.365047	0.17746	13.34	0.8690361499563457	0.16852	0.00313	0.01653	N	AEFDBI	0.037221	0.05085	N	-0.949558894302633	0.09702	0.4603585	-1.11896342680627	0.07338	0.3565461	1.17956831403963E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.172	0.12673	-0.279000	0.08512	.	.	-0.540000	0.04934	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5945:0.4055:0.0:0.0	3.728	0.08011	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3095	9084.15	108	chr19	54805957	.	A	T	9084.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=5.15;DP=4262;ExcessHet=11.8493;FS=0.848;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.77;MQRankSum=-1.667e+01;QD=2.69;ReadPosRankSum=1.69;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:69,0:69:99:.:.:0,120,1800	8	0	13	0
chr19	54805960	54805960	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A371G:p.E124G	.	.	423	736	362	1	0	364	0.198257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.007	B	0.006	B	.	.	1.000	N	0.675	N	5.81	T	-0.937	T	0.002	T	0.192	0.190	5.025	-1.55	-0.654	-0.494	4.324	0.010	0.000765021981206	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs796298317	6.871e-07	4.789e-06	0	1.381e-06	9.009e-07	0	0	.	.	0	0	0	0	0	0	9.009e-07	0	0	0	2.634e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.122	0.27663	T	0.119	0.39190	T	0.007	0.14184	B	0.002	0.12133	B	.	.	.	.	1	0.08975	N	-0.045	0.04980	N	2.62	0.12988	T	-3.74	0.71042	D	0.211	0.23506	-0.9370	0.43088	T	0.002	0.00676	T	9	0.05600232	0.06209	T	7.65E-4	0.00549	T	0.010	0.01040	.	.	0.043077524339	0.03247	0.06409426405292065	0.06348	1.75526258725	0.91031	.	.	.	.	.	.	-0.331698	0.05984	T	-0.714237	0.05079	T	0.0368346457453638	0.03126	T	.	.	.	.	.	.	.	.	.	.	.	-2.952	0.34463	T	.	.	0.072	0.17103	B	.;.;.;.;.;.	.;.;.;.;.;.	0.634502	0.10029	6.781	0.88093227450565881	0.17711	0.00125	0.00780	N	AEFDBI	0.028794	0.02603	N	-1.26647521352365	0.04087	0.1837661	-1.38178856189957	0.03446	0.1607592	2.06444612407306E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.55	0.08105	-0.492000	0.06547	.	.	-1.507000	0.01020	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5179:0.0:0.4821:0.0	4.324	0.10473	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3095	9747.15	108	chr19	54805960	.	A	G	9747.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.407;DP=4341;ExcessHet=11.8493;FS=1.800;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.74;MQRankSum=-1.688e+01;QD=2.82;ReadPosRankSum=1.56;SOR=0.860	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:69,0:69:99:.:.:0,120,1800	8	0	13	0
chr19	54805974	54805974	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A385T:p.T129S	.	.	422	677	422	1	0	424	0.23847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.001	B	0.001	N	1.000	N	-2.79	N	2.73	T	-0.875	T	0.006	T	0.022	-2.303	0.004	-0.047	-0.086	0.239	3.134	0.102	0.00369938800555	.	.	5.567e-05	0	0.0007	0	0	0	0	0	.	.	.	rs748394765	3.431e-06	1.3e-05	4.096e-06	2.759e-06	2.701e-06	1.01e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.701e-06	3.326e-05	0	6.662e-06	6.588e-05	1.3e-05	0	6.616e-05	0	0	.	.	0	0	6.616e-05	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.001108	0.00740	N	7.200430	1	0.08975	N	-3.165	0.00009	N	2.73	0.11839	T	1.22	0.01712	N	0.056	0.03613	-0.8748	0.50166	T	0.006	0.01870	T	10	0.013647258	0.00289	T	0.003699	0.08558	T	0.102	0.29158	.	.	0.143184338766	0.13958	0.027044094549388754	0.02654	1.39109223815	0.85005	.	.	.	.	.	.	-0.462046	0.00955	T	-0.901474	0.00492	T	0.0748926305845455	0.09321	T	.	.	.	.	.	.	.	.	.	.	.	-0.763	0.00889	T	.	.	0.064	0.05845	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.834838	0.01040	0.044	0.53029054606884674	0.04860	0.00012	0.00170	N	AEFDBI	0.015392	0.00291	N	-2.01882774161932	0.00193	0.008257516	-1.94356271259806	0.00400	0.01770385	1.17063954684405E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.0469	0.13174	0.292000	0.18766	.	.	-0.624000	0.04539	0.002000	0.15269	0.000000	0.08366	0.005000	0.06747	0.3872:0.0:0.0:0.6128	3.134	0.06046	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3095	15353.15	108	chr19	54805974	.	A	T	15353.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=5.50;DP=4725;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.65;MQRankSum=-1.628e+01;QD=4.01;ReadPosRankSum=0.664;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:69,0:69:99:.:.:0,120,1800	8	0	13	0
chr19	54805981	54805981	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G392A:p.R131Q	.	.	421	659	441	1	0	443	0.251562	.	.	3452252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.02	B	0.001	B	0.465	N	1.000	N	-2.62	N	2.75	T	-0.952	T	0.004	T	0.043	-2.074	0.006	-1.94	-0.822	-1.007	1.446	0.013	0.000941604155589	.	.	0.0003	0	0.0013	0	0	0.0002	0	0.0016	0.001921	50	26028	rs202246882	5.279e-05	6.294e-05	3.955e-05	6.616e-05	0.0003	4.287e-05	3.961e-05	0.0002	0.0002	0	0.0001	0	7.564e-05	0	0.0002	3.51e-05	6.642e-05	0.0003	0.0001	0.0002	0.0001	0.0001	0.0008	8.284e-05	6.82e-05	0.0005	0.0004	7.44e-05	0	0.0008	0	0	0	0	2.956e-05	0	0.0004	1.0	0.00964	T	1.0	0.03910	T	0.0	0.13644	B	0.0	0.04355	B	0.464890	0.04891	N	1.542390	1	0.08975	N	-2.565	0.00047	N	2.75	0.11622	T	2.25	0.00472	N	0.04	0.03069	-0.9519	0.40643	T	0.004	0.01295	T	10	0.015721977	0.00330	T	9.42E-4	0.00934	T	0.013	0.01715	.	.	0.174091166621	0.17034	0.021095889007445256	0.02062	1.71924122415	0.90548	.	.	.	.	.	.	-0.714436	0.00030	T	-0.905433	0.00465	T	0.0501607574657884	0.05529	T	.	.	.	.	.	.	.	.	.	.	.	-0.217	0.00435	T	.	.	0.065	0.06341	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.525354	0.01788	0.138	0.73410874544489724	0.10318	0.00030	0.00276	N	AEFDBI	0.021298	0.00932	N	-2.17374974192811	0.00088	0.003751786	-2.12833273597635	0.00161	0.007103925	2.59535722897861E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.94	0.07158	-1.595000	0.02196	.	.	-0.581000	0.04707	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4314:0.0:0.2508:0.3177	1.446	0.02221	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3095	19196.15	108	chr19	54805981	.	G	A	19196.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=2.63;DP=5055;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.67;MQRankSum=-1.608e+01;QD=4.63;ReadPosRankSum=-2.990e-01;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:69,0:69:99:.:.:0,120,1800	8	0	13	0
chr19	54806034	54806034	C	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C445A:p.Q149K	.	.	416	603	500	3	0	506	0.295561	.	.	2327274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.077	B	0.073	B	0.219	U	1.000	N	2.025	M	2.69	T	-1.014	T	0.041	T	0.15	-0.307	2.540	-2.07	-1.920	-1.601	4.213	0.027	0.000600995199084	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796139593	2.054e-06	2.189e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	6.586e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.015	0.52492	D	0.466	0.21545	T	0.028	0.19712	B	0.019	0.26717	B	0.218530	0.03437	U	2.191760	1	0.08975	N	1.17	0.29769	L	2.69	0.12268	T	-0.65	0.22944	N	0.106	0.13484	-1.0136	0.25784	T	0.041	0.17446	T	10	0.07830647	0.12465	T	6.01E-4	0.00274	T	0.027	0.05988	.	.	0.15499578495	0.15088	0.030426962936334883	0.02991	1.86795582778	0.92482	.	.	.	.	.	.	-0.327326	0.06316	T	-0.707957	0.05402	T	0.07779072841769	0.09702	T	.	.	.	.	.	.	.	.	.	.	.	-3.072	0.14113	T	.	.	0.095	0.16143	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.261443	0.00472	0.010	0.57104873323543892	0.05696	0.00143	0.00871	N	AEFDBI	0.036756	0.04948	N	-1.49293136850256	0.01900	0.08334951	-1.67917428157046	0.01232	0.05552245	1.96384650934533E-4	0.05898	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.04	-2.07	0.06873	-1.932000	0.01645	.	.	-5.196000	0.00013	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4754:0.2961:0.2285	4.213	0.09977	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3	25116.68	292	chr19	54806034	.	C	A	25116.68	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-1.535e+00;DP=7277;ExcessHet=9.6308;FS=2.369;InbreedingCoeff=-0.4237;MLEAC=12;MLEAF=0.300;MQ=57.67;MQRankSum=-1.709e+01;QD=5.20;ReadPosRankSum=1.71;SOR=0.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:350,0:350:99:.:.:0,120,1800	8	0	12	1
chr19	54806035	54806035	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A446G:p.Q149R	.	.	417	602	500	3	0	506	0.295906	.	.	2338656	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.004	B	0.02	B	0.219	N	1.000	N	-0.195	N	2.67	T	-0.982	T	0.015	T	0.086	-2.553	0.003	-1.76	-1.632	0.104	6.415	0.005	0.000698231574451	.	.	0	0	0	0	0	0	0	0	.	.	.	rs746343340	2.328e-05	5.747e-05	1.226e-05	3.441e-05	0.0003	1.676e-05	1.479e-05	0.0003	0.0002	0	0	0	0	0	0	2.699e-06	1.658e-05	0.0003	1.998e-05	0.0002	0	4.097e-05	0.0006	5.31e-06	2.47e-06	0.0002	9.372e-05	0	0	0	0	0	0	0	0	0	0.0006	1.0	0.00964	T	0.716	0.08505	T	0.0	0.07471	B	0.002	0.19048	B	0.218530	0.03437	N	2.191760	1	0.08975	N	-0.41	0.02942	N	2.67	0.12473	T	0.01	0.11185	N	0.051	0.02861	-0.9819	0.34561	T	0.015	0.05849	T	10	0.022258013	0.00551	T	6.98E-4	0.00435	T	0.005	0.00259	.	.	0.20808081866	0.20439	0.018312308498273373	0.01785	1.62690945155	0.89163	.	.	.	.	.	.	-0.395299	0.02485	T	-0.805596	0.01766	T	0.0361073549231356	0.02999	T	.	.	.	.	.	.	.	.	.	.	.	-0.457	0.00626	T	.	.	0.059	0.01645	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.548845	0.01717	0.126	0.1435906815429033	0.00314	0.00175	0.01031	N	AEFDBI	0.030820	0.03175	N	-2.16967246651284	0.00090	0.003831711	-2.20712287736297	0.00108	0.004744652	1.07926449648836E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.76	0.07574	-0.066000	0.11556	.	.	-3.284000	0.00100	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7891:0.0:0.2109:0.0	6.415	0.20912	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3	25188.68	292	chr19	54806035	.	A	G	25188.68	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-1.795e+00;DP=7269;ExcessHet=9.6308;FS=2.369;InbreedingCoeff=-0.4237;MLEAC=12;MLEAF=0.300;MQ=57.69;MQRankSum=-1.721e+01;QD=5.19;ReadPosRankSum=1.92;SOR=0.494	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:350,0:350:99:.:.:0,120,1800	8	0	12	1
chr19	54806051	54806051	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C462G:p.I154M	.	.	413	617	488	4	0	496	0.286705	.	.	2309998	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.022	B	0.06	B	0.022	N	1.000	N	-0.28	N	2.71	T	-0.951	T	0.016	T	0.09	-4.753	0.001	-2.09	-4.463	-0.751	4.6	0.009	0.000542649328314	.	.	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs112266387	6.846e-07	1.916e-05	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.643e-06	3.949e-05	0	1.361e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	0.265	0.28300	T	0.001	0.13644	B	0.005	0.26717	B	0.021564	0.01555	N	4.036070	1	0.08975	N	-1.185	0.00856	N	2.71	0.12055	T	0.58	0.03824	N	0.052	0.04913	-0.9508	0.40833	T	0.016	0.06329	T	10	0.01567614	0.00329	T	5.43E-4	0.00196	T	0.009	0.00846	.	.	0.158540857583	0.15491	0.022625134842526706	0.02214	1.56269628182	0.88057	.	.	.	.	.	.	-0.406495	0.02098	T	-0.821678	0.01419	T	0.0491104212058717	0.05343	T	.	.	.	.	.	.	.	.	.	.	.	-3.48	0.28982	T	.	.	0.069	0.06617	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.681431	0.00202	0.003	0.30573155537778873	0.01679	0.00033	0.00296	N	AEFDBI	0.022408	0.01117	N	-2.59438172759116	0.00009	0.0004174465	-2.64788836212231	0.00010	0.0004634108	0.947304446228941	0.27746	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-2.09	0.06831	-1.305000	0.02846	.	.	-0.638000	0.04459	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.4374:0.2279:0.3346	4.6	0.11740	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3158	22542.15	292	chr19	54806051	.	C	G	22542.15	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.004e+00;DP=7737;ExcessHet=9.6308;FS=2.445;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.342;MQ=57.95;MQRankSum=-1.708e+01;QD=4.53;ReadPosRankSum=3.86;SOR=0.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:350,0:350:99:.:.:0,120,1800	7	0	12	2
chr19	54806073	54806074	GA	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon4:c.484_485del:p.E162Sfs*3	.	.	409	636	474	3	0	480	0.273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.63e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	24607.11	292	chr19	54806072	.	GGA	G	24607.11	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.628;DP=7660;ExcessHet=11.8493;FS=3.525;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.97;MQRankSum=-1.728e+01;QD=4.45;ReadPosRankSum=2.39;SOR=0.940	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:327,0:327:99:.:.:0,120,1800	8	0	13	0
chr19	54806075	54806075	-	GG	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon4:c.486_487insGG:p.A163Gfs*78	.	.	415	630	474	3	0	480	0.275862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.633e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	28945.47	292	chr19	54806075	.	A	AGG	28945.47	.	AC=14;AF=0.350;AN=40;BaseQRankSum=-5.960e-01;DP=7796;ExcessHet=14.4320;FS=3.507;InbreedingCoeff=-0.5273;MLEAC=14;MLEAF=0.350;MQ=57.86;MQRankSum=-1.730e+01;QD=4.78;ReadPosRankSum=2.42;SOR=0.985	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:327,0:327:99:.:.:0,120,1800	6	0	14	1
chr19	54806086	54806086	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T497C:p.L166P	.	.	417	638	464	3	0	470	0.269187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.024	B	0.044	B	.	.	1.000	N	0.83	L	5.72	T	-0.892	T	0.002	T	0.193	-1.464	0.019	-1.46	-2.181	-4.220	0.244	0.084	0.00126561986838	.	.	.	.	.	.	.	.	.	.	0.0108345	282	26028	rs112694450	2.054e-06	2.668e-05	1.362e-06	2.752e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.176	0.28772	T	0.247	0.31026	T	0.008	0.14655	B	0.01	0.16012	B	.	.	.	.	1	0.08975	N	0.96	0.23930	L	5.72	0.00726	T	-3.32	0.68764	D	0.048	0.08088	-0.8920	0.48758	T	0.002	0.00676	T	9	0.05647248	0.06334	T	0.001266	0.01708	T	0.084	0.24469	.	.	0.043077524339	0.03247	0.029543096631376373	0.02903	2.22587521974	0.95901	.	.	.	.	.	.	-0.333176	0.05874	T	-0.71636	0.04974	T	0.06923972269659	0.08545	T	.	.	.	.	.	.	.	.	.	.	.	-6.488	0.50992	T	.	.	0.125	0.36889	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.541643	0.01739	0.130	0.30546163533684245	0.01676	0.00084	0.00566	N	AEFDBI	0.040908	0.06150	N	-1.75954112441418	0.00652	0.02811985	-1.89857749402206	0.00493	0.0218348	4.00468085139758E-4	0.06820	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-4.522000	0.00254	.	.	-1.727000	0.00720	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2448:0.2837:0.2446:0.2269	0.244	0.00182	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	29384.38	292	chr19	54806086	.	T	C	29384.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-1.199e+00;DP=7767;ExcessHet=17.4423;FS=4.575;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=57.83;MQRankSum=-1.735e+01;QD=4.51;ReadPosRankSum=0.065;SOR=1.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:327,0:327:99:.:.:0,120,1800	6	0	15	0
chr19	54806109	54806109	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A520G:p.I174V	.	.	416	679	424	3	0	430	0.240492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.000	N	1.000	N	-1.53	N	2.72	T	-0.970	T	0.008	T	0.063	-3.538	0.001	-0.854	-3.514	-0.448	.	0.047	0.00150018900562	.	.	.	.	.	.	.	.	.	.	0.0017673	46	26028	rs200435373	4.107e-06	8.21e-06	4.086e-06	4.128e-06	8.986e-05	1.48e-06	9.7e-07	2.381e-05	1.26e-05	8.986e-05	4.474e-05	0	0	0	0	8.995e-07	0	0	3.982e-05	6.581e-05	5.185e-05	2.72e-05	9.852e-05	1.73e-05	1.139e-05	3.296e-05	1.946e-05	9.852e-05	0	0	0	0	0	0	2.95e-05	0	0	1.0	0.00964	T	0.716	0.08273	T	0.0	0.02946	B	0.0	0.04355	B	0.000015	0.00162	N	21.575300	1	0.08975	N	-1.765	0.00315	N	2.72	0.11947	T	0.4	0.04022	N	0.064	0.09349	-0.9697	0.37262	T	0.008	0.02968	T	9	0.026097596	0.00785	T	0.002	0.02318	T	0.047	0.12962	.	.	0.043077524339	0.03247	0.009202094420106284	0.00883	1.30891436969	0.83166	.	.	.	.	.	.	-0.448991	0.01145	T	-0.882721	0.00632	T	0.0586992040478046	0.06962	T	.	.	.	.	.	.	.	.	.	.	.	-0.517	0.02545	T	.	.	0.065	0.05360	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.275204	0.00054	0.001	0.16757461822379344	0.00462	0.00104	0.00666	N	AEFDBI	0.027275	0.02201	N	-2.5106296527513	0.00015	0.0006516505	-2.51493381181123	0.00021	0.0009431019	0.0431614665892215	0.14558	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.854	0.10163	-0.997000	0.03816	.	.	-2.920000	0.00157	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	24913.38	292	chr19	54806109	.	A	G	24913.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-1.236e+00;DP=7520;ExcessHet=17.4423;FS=7.542;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=58.03;MQRankSum=-1.656e+01;QD=3.98;ReadPosRankSum=-3.141e+00;SOR=1.302	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:327,0:327:99:.:.:0,120,1800	6	0	15	0
chr19	54806112	54806112	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A523G:p.N175D	.	.	414	926	180	2	0	184	0.0903733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.012	B	0.024	B	0.006	U	1.000	N	0.765	N	2.53	T	-0.990	T	0.026	T	0.033	-0.167	3.186	-0.795	-0.445	-1.162	.	0.015	0.00143953544246	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs796888355	6.845e-07	4.105e-06	1.362e-06	0	1.164e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.164e-05	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.03	0.45393	D	0.337	0.18178	T	0.002	0.09854	B	0.007	0.12992	B	0.005772	0.01094	U	5.332710	1	0.08975	N	0.345	0.11182	N	2.53	0.14038	T	-2.93	0.61865	D	0.138	0.13626	-0.9903	0.32525	T	0.026	0.11220	T	9	0.087477654	0.14971	T	0.00144	0.02164	T	0.015	0.02232	.	.	0.220282294035	0.21616	0.006777662489737481	0.00644	1.71896696176	0.90540	.	.	.	.	.	.	-0.416589	0.01799	T	-0.836177	0.01158	T	0.0856821440474374	0.10698	T	.	.	.	.	.	.	.	.	.	.	.	-7.374	0.57236	T	.	.	0.120	0.29060	B	.;.;.;.;.;.	.;.;.;.;.;.	0.412746	0.07838	4.531	0.79727465880553572	0.12873	0.00046	0.00367	N	AEFDBI	0.025639	0.01789	N	-1.25407888021563	0.04246	0.1912621	-1.39176687369686	0.03339	0.1555523	1.44639492226876E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.795	0.10364	-0.556000	0.06082	.	.	0.352000	0.19979	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	9512.01	292	chr19	54806112	.	A	G	9512.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-6.490e-01;DP=7263;ExcessHet=4.7172;FS=5.109;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=57.76;MQRankSum=-1.587e+01;QD=2.63;ReadPosRankSum=-2.764e+00;SOR=1.228	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:327,0:327:99:.:.:0,120,1800	12	0	9	0
chr19	54806123	54806123	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C534G:p.F178L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.726	P	0.209	B	.	.	1.000	N	2.57	M	2.55	T	-1.034	T	0.035	T	0.252	0.673	7.600	-0.094	0.008	0.255	3.148	0.031	0.000640269659551	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.738e-06	2.737e-06	5.448e-06	0	3.598e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.52492	T	0.254	0.25987	T	0.726	0.42471	P	0.209	0.37260	B	.	.	.	.	1	0.08975	N	2.63	0.76995	M	2.55	0.13795	T	-4.13	0.75139	D	0.149	0.23506	-1.0335	0.19332	T	0.035	0.15074	T	9	0.11178583	0.20944	T	6.4E-4	0.00334	T	0.031	0.07369	.	.	0.0675242888579	0.06100	0.02492111056342177	0.02443	1.97870398401	0.93635	.	.	.	.	.	.	-0.225158	0.17293	T	-0.5612	0.16264	T	0.240806773304939	0.22457	T	.	.	.	.	.	.	.	.	.	.	.	-7.782	0.59574	D	.	.	0.812	0.84697	P	.;.;.;.;.;.	.;.;.;.;.;.	1.162193	0.15510	11.90	0.8526803635123269	0.15788	0.00661	0.02862	N	AEFDBI	0.043687	0.06936	N	-0.829909193909291	0.12550	0.612442	-1.04751644522174	0.08758	0.4322153	1.16407371566125E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.01	-0.0944	0.12981	0.748000	0.25970	.	.	0.286000	0.18717	0.003000	0.16062	0.000000	0.08366	0.023000	0.12082	0.0:0.6768:0.0:0.3232	3.148	0.06091	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1126.98	292	chr19	54806123	.	C	G	1126.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.872;DP=6886;ExcessHet=0.0000;FS=9.360;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.43;MQRankSum=-1.993e+01;QD=2.24;ReadPosRankSum=-3.437e+00;SOR=1.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:327,0:327:99:.:.:0,120,1800	20	0	1	0
chr19	54806161	54806161	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A572G:p.E191G	.	.	416	1062	43	1	0	45	0.0207469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.001	B	0.197	U	1.000	N	-3.25	N	6.83	T	-0.852	T	0.000	T	0.138	-2.560	0.003	-0.418	-0.115	0.169	3.278	0.125	0.00319016254727	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482608476	1.369e-06	2.805e-05	0	2.752e-06	1.164e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	0	1.164e-05	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.197140	0.03293	U	2.244820	1	0.08975	N	-2.95	0.00016	N	6.83	0.00484	T	4.86	0.00044	N	0.172	0.19190	-0.8522	0.51816	T	0.000	0.00075	T	10	0.030806363	0.01209	T	0.00319	0.06996	T	0.125	0.34456	.	.	0.0675242888579	0.06100	0.08634734685735217	0.08568	1.74118563909	0.90866	.	.	.	.	.	.	-0.3614	0.04051	T	-0.756902	0.03225	T	0.0659469353070313	0.08069	T	.	.	.	.	.	.	.	.	.	.	.	1.576	0.00090	T	.	.	0.029	0.00020	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.208131	0.03048	0.471	0.28823449377494542	0.01499	0.00008	0.00134	N	AEFDBI	0.016221	0.00352	N	-2.10568283398864	0.00124	0.005325665	-2.01989730429939	0.00278	0.01226669	1.20238691917371E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.418	0.11728	0.692000	0.25161	.	.	-0.573000	0.04775	0.027000	0.20232	0.000000	0.08366	0.003000	0.05239	0.3266:0.0:0.6734:0.0	3.278	0.06497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	2204.92	292	chr19	54806161	.	A	G	2204.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.62;DP=3999;ExcessHet=0.6776;FS=20.520;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=58.03;MQRankSum=-1.615e+01;QD=1.78;ReadPosRankSum=2.51;SOR=3.014	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:327,0:327:99:.:.:0,120,1800	17	0	4	0
chr19	54806170	54806170	G	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G581C:p.R194T	.	.	417	1070	33	1	1	36	0.016092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.985	D	0.907	P	0.909	N	1.000	N	2.545	M	2.92	T	-1.056	T	0.069	T	0.505	1.229	9.983	0.728	0.685	1.181	4.805	0.086	0.00167460938054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs903729815	0	1.505e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.607e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.068	0.35726	T	0.014	0.62352	D	0.843	0.60733	P	0.609	0.61644	P	0.908863	0.07403	N	1.076150	1	0.08975	N	2.435	0.70606	M	2.92	0.09915	T	-4.66	0.79482	D	0.251	0.41656	-1.0562	0.12724	T	0.069	0.28247	T	10	0.32319447	0.49660	T	0.001675	0.02753	T	0.086	0.25016	.	.	0.341886373756	0.33793	0.0825432362972079	0.08189	3.18632837919	0.99467	.	.	.	.	.	.	-0.182359	0.23386	T	-0.499722	0.22376	T	0.762926518917084	0.44021	D	.	.	.	.	.	.	.	.	.	.	.	-7.108	0.64010	T	.	.	0.181	0.51583	B	.;.;.;.;.;.	.;.;.;.;.;.	1.917375	0.24354	16.36	0.92977417747853819	0.22558	0.01550	0.05082	N	AEFDBI	0.044415	0.07142	N	-0.40202933579575	0.25397	1.378405	-0.700629391342907	0.16944	0.8987731	1.66932649274431E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	0.728	0.17411	0.730000	0.25711	.	.	-1.575000	0.00928	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	4.805	0.12681	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	2129.92	292	chr19	54806170	.	G	C	2129.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=5.00;DP=3969;ExcessHet=0.6776;FS=18.149;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=58.04;MQRankSum=-1.605e+01;QD=1.76;ReadPosRankSum=1.36;SOR=2.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:327,0:327:99:.:.:0,120,1800	17	0	4	0
chr19	54806178	54806178	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G589A:p.G197S	.	.	416	1100	5	1	0	7	0.00317173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.998	D	0.868	P	0.093	U	1.000	N	1.46	L	2.58	T	-1.073	T	0.044	T	0.339	1.951	12.48	-0.474	-0.122	-0.059	3.151	0.059	.	.	0.00399361	0.0068	0.05	0	0	.	0	0	0	0.0003234	50	154602	rs562937136	0.0007	0.0007	0.0007	0.0006	0.0229	0.0007	0.0006	0.0216	0.0210	0.0229	0.0010	0	0	0	0.0023	5.847e-05	0.0014	0.0004	0.0061	0.0061	0.0064	0.0058	0.0214	0.0057	0.0056	0.0203	0.0198	0.0214	0	0.0013	0	0	0	0.0068	0.0001	0.0043	0.0009	0.028	0.46129	D	0.063	0.45110	T	0.981	0.60036	D	0.611	0.51118	P	0.093193	0.20236	U	0.246155	1	0.08975	N	1.84	0.48285	L	2.58	0.13434	T	-5.08	0.84457	D	0.261	0.29544	-1.0726	0.08851	T	0.044	0.18742	T	10	0.0045753717	0.00095	T	.	.	.	0.059	0.16972	.	.	0.328504224676	0.32467	0.06988589293301634	0.06926	2.68827321764	0.98538	.	.	.	.	.	.	-0.580043	0.00192	T	-0.582971	0.14280	T	0.0881467788318275	0.10995	T	.	.	.	.	.	.	.	.	.	.	.	-6.097	0.50340	T	.	.	0.213	0.55665	B	.;.;.;.;.;.	.;.;.;.;.;.	1.579481	0.20215	14.64	0.98519973530265537	0.42447	0.00237	0.01320	N	AEFDBI	0.040798	0.06117	N	-0.646128351039815	0.17573	0.9054126	-0.934422807103989	0.11285	0.573984	1.21157652715662E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.474	0.11504	-0.555000	0.06089	.	.	0.348000	0.19902	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3456:0.0:0.6544:0.0	3.151	0.06099	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	557.1	292	chr19	54806178	.	G	A	557.1	.	AC=2;AF=0.048;AN=42;BaseQRankSum=6.72;DP=3939;ExcessHet=0.1072;FS=13.716;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=57.71;MQRankSum=-1.030e+01;QD=0.93;ReadPosRankSum=-3.120e-01;SOR=2.105	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:327,0:327:99:.:.:0,120,1800	19	0	2	0
chr19	54806184	54806184	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T595C:p.F199L	.	.	418	1073	30	1	0	32	0.0146924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.254	B	0.094	B	0.006	N	1.000	N	1.09	L	5.85	T	-0.922	T	0.003	T	0.373	0.435	6.361	-0.617	-0.296	-2.050	2.752	0.052	0.00128745751053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169726842	0	1.095e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	5.266e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.191	0.21066	T	0.247	0.26066	T	0.043	0.21573	B	0.027	0.21085	B	0.005759	0.01093	N	5.479650	1	0.08975	N	0.64	0.16041	N	5.85	0.00643	T	-3.62	0.69593	D	0.061	0.03502	-0.9217	0.45320	T	0.003	0.00929	T	10	0.099934906	0.18167	T	0.001287	0.01784	T	0.052	0.14661	.	.	0.290620346082	0.28682	0.02907533590376118	0.02856	2.04366087562	0.94286	.	.	.	.	.	.	-0.26258	0.12600	T	-0.614955	0.11585	T	0.0610753484070301	0.07336	T	.	.	.	.	.	.	.	.	.	.	.	-6.709	0.51878	T	.	.	0.675	0.82233	P	.;.;.;.;.;.	.;.;.;.;.;.	-0.166739	0.03264	0.556	0.74081094485100063	0.10563	0.00161	0.00961	N	AEFBI	0.035128	0.04469	N	-1.23634316811277	0.04483	0.2024168	-1.37910423948924	0.03475	0.1621945	1.81584576774125E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.617	0.10999	-2.589000	0.00974	.	.	-3.015000	0.00138	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4179:0.0:0.0:0.5821	2.752	0.04959	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	2620.92	292	chr19	54806184	.	T	C	2620.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=4.05;DP=3954;ExcessHet=0.6776;FS=11.646;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=57.87;MQRankSum=-1.562e+01;QD=2.19;ReadPosRankSum=-1.234e+00;SOR=2.027	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:327,0:327:99:.:.:0,120,1800	17	0	4	0
chr19	54806191	54806191	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G602A:p.G201E	.	.	417	1081	23	1	0	25	0.0114312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.047	B	0.024	B	0.001	N	1.000	N	-0.69	N	5.77	T	-0.841	T	0.002	T	0.074	-3.080	0.001	-1.46	-4.112	-4.698	3.815	0.009	0.000933240469926	.	.	.	.	.	.	.	.	.	.	.	.	.	rs751766410	2.739e-06	1.779e-05	2.725e-06	2.753e-06	6.004e-05	6.4e-07	4.3e-07	9.94e-06	3.72e-06	6.004e-05	0	0	0	0	0	0	0	2.329e-05	0	3.949e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.989	0.03205	T	0.007	0.14184	B	0.017	0.18140	B	0.000834	0.00693	N	25.857100	1	0.08975	N	0.385	0.12166	N	5.77	0.00687	T	-0.11	0.09796	N	0.067	0.12198	-0.8412	0.52567	T	0.002	0.00526	T	10	0.035131097	0.01749	T	9.33E-4	0.00911	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.014322109949426428	0.01389	1.91097436102	0.92909	.	.	.	.	.	.	-0.406241	0.02106	T	-0.821313	0.01426	T	0.152467426749554	0.17299	T	.	.	.	.	.	.	.	.	.	.	.	-5.575	0.45358	T	.	.	0.110	0.31330	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.356574	0.00045	0.001	0.63035751494400261	0.07118	0.00046	0.00367	N	AEFBI	0.026834	0.02083	N	-2.40257893415306	0.00027	0.001151865	-2.47848935217197	0.00026	0.001144284	0.126168324027902	0.16994	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-5.953000	0.00107	.	.	-2.820000	0.00180	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3698:0.2864:0.3438:0.0	3.815	0.08326	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	2659.92	292	chr19	54806191	.	G	A	2659.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.46;DP=3941;ExcessHet=0.6776;FS=11.535;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=57.88;MQRankSum=-1.562e+01;QD=2.25;ReadPosRankSum=-2.584e+00;SOR=1.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:327,0:327:99:.:.:0,120,1800	17	0	4	0
chr19	54806230	54806230	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C641T:p.P214L	.	.	417	1092	12	1	0	14	0.00636943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.004	B	0.009	N	1.000	N	-0.09	N	2.72	T	-0.961	T	0.015	T	0.089	-2.764	0	-2.01	-3.596	-0.821	3.217	0.014	0.000816710685669	.	.	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs373028201	1.371e-06	1.505e-05	1.364e-06	1.378e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	0	3.949e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.30943	T	0.751	0.15406	T	0.0	0.02946	B	0.002	0.08700	B	0.008959	0.01224	N	6.106810	1	0.08975	N	-0.34	0.03507	N	2.72	0.11947	T	-2.22	0.56144	N	0.07	0.08227	-0.9609	0.39012	T	0.015	0.05801	T	10	0.024040222	0.00648	T	8.17E-4	0.00670	T	0.014	0.01968	.	.	0.0675242888579	0.06100	0.021072794982650286	0.02060	1.56403758506	0.88076	.	.	.	.	.	.	-0.392352	0.02598	T	-0.801363	0.01868	T	0.0486300559627527	0.05257	T	.	.	.	.	.	.	.	.	.	.	.	-1.357	0.29719	T	.	.	0.072	0.12181	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.620061	0.01518	0.097	0.48884289032456646	0.04116	0.00062	0.00453	N	AEFBI	0.019551	0.00689	N	-2.36564159368528	0.00032	0.001392303	-2.42714203885532	0.00034	0.001497015	0.00765305925471646	0.11515	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.01	-2.01	0.07003	-0.780000	0.04759	.	.	-3.486000	0.00081	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2225:0.3846:0.0:0.3929	3.217	0.06304	976	0.04745	Immunoglobulin subtype;Immunoglobulin subtype;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	526.23	65	chr19	54806230	.	C	T	526.23	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.38;DP=1660;ExcessHet=0.1072;FS=6.133;InbreedingCoeff=-0.0476;MLEAC=1;MLEAF=0.024;MQ=57.77;MQRankSum=-1.289e+01;QD=1.15;ReadPosRankSum=0.686;SOR=1.520	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	19	0	2	0
chr19	54808838	54808838	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.C661T:p.P221S	.	.	424	736	361	1	0	363	0.19782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.006	B	0.003	B	0.046	U	1.000	N	0.13	N	7.15	T	-0.925	T	0.001	T	0.11	-1.679	0.012	-1.7	-1.068	-0.084	2.159	0.018	0.000621740094912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.39e-06	2.737e-06	0	2.789e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.144e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.21968	T	0.279	0.21745	T	0.006	0.13644	B	0.003	0.08700	B	0.046212	0.01956	U	5.272780	1	0.08975	N	0.045	0.08109	N	7.05	0.00450	T	-2.36	0.55025	N	0.061	0.06587	-0.9252	0.44829	T	0.001	0.00255	T	10	0.058746576	0.06953	T	6.22E-4	0.00303	T	0.018	0.03083	.	.	0.0675242888579	0.06100	0.02819159353811284	0.02769	1.54876453167	0.87867	.	.	.	.	.	.	-0.366904	0.03753	T	-0.764809	0.02943	T	0.114286564290524	0.13862	T	.	.	.	.	.	.	.	.	.	.	.	-4.184	0.26519	T	.	.	0.104	0.18950	B	.;.;.;.	.;.;.;.	-0.289144	0.02665	0.341	0.41441202538805488	0.02990	0.00018	0.00208	N	AEFBI	0.019551	0.00689	N	-1.61870495931056	0.01174	0.05102983	-1.71290992187964	0.01081	0.04855486	3.23883740516504E-5	0.03775	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-0.587000	0.05874	.	.	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.2772:0.3273:0.3955	2.159	0.03587	982	0.03397	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	25713.48	41	chr19	54808838	.	C	T	25713.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=3.86;DP=5771;ExcessHet=14.4320;FS=0.714;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=57.82;MQRankSum=-1.875e+01;QD=4.71;ReadPosRankSum=0.460;SOR=0.848	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530	7	0	14	0
chr19	54808851	54808852	GG	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon5:c.674_675del:p.W225Sfs*5	.	.	420	753	348	1	0	350	0.188578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	28348.44	41	chr19	54808850	.	TGG	T	28348.44	.	AC=14;AF=0.333;AN=42;BaseQRankSum=2.40;DP=6077;ExcessHet=14.4320;FS=0.703;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=57.95;MQRankSum=-1.810e+01;QD=4.95;ReadPosRankSum=0.095;SOR=0.839	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530	7	0	14	0
chr19	54808853	54808853	-	AT	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon5:c.676_677insAT:p.P226Hfs*15	.	.	419	755	347	1	0	349	0.187735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	28654.44	41	chr19	54808853	.	C	CAT	28654.44	.	AC=14;AF=0.333;AN=42;BaseQRankSum=2.62;DP=6070;ExcessHet=14.4320;FS=0.703;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=57.95;MQRankSum=-1.810e+01;QD=5.01;ReadPosRankSum=-1.110e-01;SOR=0.846	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530	7	0	14	0
chr19	54808875	54808875	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.T698C:p.F233S	.	.	419	767	335	1	0	337	0.180118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.002	B	0.491	U	1.000	N	-1.24	N	7.38	T	-0.982	T	0.000	T	0.081	-2.864	0	-1.7	-0.659	-3.350	3.991	0.009	0.000447511138945	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1465997687	1.376e-06	1.368e-06	1.37e-06	1.382e-06	6.075e-05	2.3e-07	9e-08	1.006e-05	3.76e-06	6.075e-05	0	0	0	0	0	0	0	0	1.993e-05	1.974e-05	1.297e-05	2.724e-05	7.415e-05	5.3e-06	2.47e-06	1.966e-05	1.045e-05	7.415e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.506	0.10967	T	0.0	0.07471	B	0.002	0.06944	B	0.491149	0.05037	U	1.930170	1	0.08975	N	-1.515	0.00494	N	7.25	0.00433	T	2.25	0.00307	N	0.14	0.13911	-0.9819	0.34561	T	0.000	0.00152	T	10	0.028942287	0.01023	T	4.48E-4	0.00107	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.02708054647761313	0.02658	2.35642927456	0.96844	.	.	.	.	.	.	-0.409861	0.01992	T	-0.826513	0.01325	T	0.0655447216952588	0.08011	T	.	.	.	.	.	.	.	.	.	.	.	-0.475	0.00568	T	.	.	0.070	0.03887	B	.;.;.;.	.;.;.;.	-0.295392	0.02636	0.333	0.47455017389395787	0.03881	0.00276	0.01495	N	AEFBCI	0.026542	0.02011	N	-2.02046759288525	0.00191	0.008189703	-2.03483107511558	0.00258	0.01138985	2.16622587642089E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-2.798000	0.00832	.	.	-2.007000	0.00444	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.4355:0.0:0.5645	3.991	0.09026	982	0.03397	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	29056.48	41	chr19	54808875	.	T	C	29056.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=0.156;DP=6159;ExcessHet=14.4320;FS=1.502;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=58.16;MQRankSum=-1.759e+01;QD=5.05;ReadPosRankSum=-6.680e-01;SOR=0.766	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	7	0	14	0
chr19	54814076	54814076	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon7:c.C994T:p.L332F,	.	.	421	1085	16	0	0	16	0.0073193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.981	D	0.628	P	.	.	1.000	N	.	.	7.0	T	-0.777	T	0.002	T	0.111	0.693	7.700	0.569	0.567	-0.103	.	0.046	.	.	0.00339457	0.0280	0.01	0.0556	0	0.1667	0.0216	0.1	0.0412	0.0022186	343	154602	rs200678651	0.0042	0.0043	0.0040	0.0045	0.0103	0.0042	0.0041	0.0098	0.0095	0.0009	0.0015	0.0006	2.519e-05	0.0031	0.0042	0.0044	0.0029	0.0103	0.0030	0.0030	0.0031	0.0029	0.0117	0.0027	0.0026	0.0092	0.0083	0.0008	0	0.0016	0.0003	0	0.0015	0.0034	0.0046	0.0033	0.0117	0.191	0.21550	T	0.012	0.64786	D	0.834	0.53183	P	0.387	0.51677	B	.	.	.	.	1	0.08975	N	.	.	.	6.83	0.00502	T	-0.92	0.24676	N	0.095	0.13484	-0.7769	0.56476	T	0.002	0.00707	T	7	0.0030997992	0.00051	T	.	.	.	0.046	0.12618	.	.	0.117191471859	0.11215	0.021027281713749055	0.02055	1.64295023885	0.89391	.	.	.	.	.	.	-0.67447	0.00052	T	-0.746844	0.03610	T	0.00640861376865033	0.00071	T	.	.	.	.	.	.	.	.	.	.	.	-5.727	0.44835	T	.	.	0.118	0.28435	B	.;.;.;.;.	.;.;.;.;.	0.635634	0.10040	6.792	0.97263748312159359	0.33102	0.00793	0.03241	N	AEFDGBI	0.049342	0.08514	N	-0.663953925870753	0.17055	0.8743658	-0.918912342796998	0.11648	0.5947029	8.9522590131838E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	-0.074000	0.11410	.	.	0.284000	0.18682	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	982	0.03397	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1269.98	61	chr19	54814076	.	C	T	1269.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.390;DP=1208;ExcessHet=0.0000;FS=0.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=0.250;SOR=0.613	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1396	20	0	1	0
chr19	54830166	54830166	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.G1226C:p.R409T	.	.	489	977	43	13	0	69	0.0341078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.017	B	0.016	B	.	.	1.000	N	1.91	M	7.22	T	-0.957	T	0.001	T	0.113	-0.230	2.891	-1.44	-0.785	-0.866	.	0.014	0.00280289760826	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402897436	0	6.612e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.13e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.09	0.63226	T	0.404	0.21545	T	0.008	0.14655	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	2.205	0.62170	M	7.22	0.00442	T	-2.14	0.48523	N	0.155	0.19861	-0.9566	0.39807	T	0.001	0.00438	T	8	0.05749756	0.06613	T	0.002803	0.05840	T	0.014	0.01968	0.257	0.19845	0.0611884634855	0.05136	0.14103244144494176	0.14026	0.341241828603	0.36058	.	.	.	0.005761	0.05208	T	-0.327897	0.06272	T	-0.708778	0.05358	T	0.0654255235430696	0.07993	T	.	.	.	0.077683635	0.17647	0.09936527	0.23722	0.077683635	0.17647	0.09936527	0.23722	-8.799	0.66394	D	.	.	0.112	0.22573	B	.;.;.	.;.;.	-0.127859	0.03478	0.649	0.55859222650876794	0.05430	0.00622	0.02746	N	AEFBI	0.041929	0.06440	N	-1.14611797788255	0.05843	0.2674817	-1.32606166375958	0.04096	0.1925055	3.25109135686022E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.719	-1.44	0.08391	-0.857000	0.04394	.	.	0.254000	0.18348	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.15	3117.3	35	chr19	54830166	.	G	C	3117.3	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-4.161e+00;DP=4417;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.67;MQRankSum=-1.789e+01;QD=1.56;ReadPosRankSum=-1.700e-02;SOR=0.650	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:447,0:447:99:.:.:0,120,1800	14	0	6	1
chr19	54830177	54830177	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.C1237T:p.R413C	.	.	487	975	47	13	0	73	0.036085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.016	B	0.004	B	.	.	1.000	N	1.505	L	7.16	T	-0.972	T	0.001	T	0.117	-0.254	2.778	0.569	0.567	0.678	.	0.019	0.00205586965996	.	0.000199681	2.628e-05	0.0002	9.156e-05	0	0	0	0	0	3.84e-05	1	26028	rs573252093	1.446e-05	8.441e-05	1.723e-05	1.165e-05	0.0002	9.44e-06	7.68e-06	4.146e-05	2.416e-05	0.0001	9.576e-05	0	0	0	0.0002	7.555e-06	1.754e-05	2.641e-05	4.289e-05	0.0001	5.533e-05	2.959e-05	0.0002	1.84e-05	1.211e-05	6.588e-05	4.499e-05	0.0002	0	0	0	0	0	0	0	0	0	0.116	0.49117	T	0.123	0.35970	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.15	0.00445	T	-2.1	0.47852	N	0.103	0.14196	-0.9722	0.36734	T	0.001	0.00408	T	8	0.05926463	0.07096	T	0.002056	0.03748	T	0.019	0.03383	.	.	0.124217242631	0.12060	0.14280557230036842	0.14203	0.306309179821	0.32927	.	.	.	0.004918	0.04343	T	-0.530801	0.00380	T	-0.694259	0.06145	T	0.0218732288632759	0.00894	T	.	.	.	0.11626438	0.27425	0.10402554	0.24975	0.11626438	0.27425	0.10402554	0.24975	-8.101	0.62445	D	.	.	0.106	0.21541	B	.;.;.	.;.;.	1.217707	0.16111	12.33	0.46755602533799501	0.03769	0.01115	0.04074	N	AEFBI	0.054109	0.09809	N	-1.01848295800702	0.08221	0.384663	-1.15555151539374	0.06668	0.3217553	2.10729526415108E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	0.650000	0.24544	.	.	0.228000	0.18124	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.15	3228.3	35	chr19	54830177	.	C	T	3228.3	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.737e+00;DP=4472;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.63;MQRankSum=-1.794e+01;QD=1.57;ReadPosRankSum=1.91;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:447,0:447:99:.:.:0,120,1800	14	0	6	1
chr19	54830178	54830178	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.G1238C:p.R413P	.	.	488	973	48	13	0	74	0.0366337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.0	B	0.003	B	.	.	1.000	N	0.605	N	7.24	T	-0.908	T	0.001	T	0.094	-2.412	0.003	-1.14	-1.579	-0.469	.	0.016	0.00338705456639	.	.	.	.	.	.	.	.	.	.	.	.	.	rs984592565	2.892e-06	0.0003	0	5.825e-06	1.321e-05	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.833e-06	0	1.321e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.075	0.38407	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.215	0.09537	N	7.23	0.00430	T	-0.45	0.24676	N	0.05	0.04072	-0.9082	0.47073	T	0.001	0.00255	T	8	0.05937442	0.07126	T	0.003387	0.07603	T	0.016	0.02506	0.366	0.37361	0.0401082797425	0.02173	0.09140339593159023	0.09073	0.323214894628	0.34489	.	.	.	0.001071	0.00595	T	-0.371148	0.03536	T	-0.770905	0.02738	T	0.0905973222850487	0.11288	T	.	.	.	0.09353458	0.21971	0.14968953	0.35334	0.09353458	0.21970	0.14968953	0.35333	-5.275	0.49736	T	.	.	0.093	0.14797	B	.;.;.	.;.;.	-0.439146	0.02071	0.191	0.43628759508592302	0.03298	0.00008	0.00134	N	AEFBI	0.019406	0.00671	N	-1.59627941012569	0.01283	0.05585422	-1.71860603525739	0.01058	0.04746591	9.63160874456533E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-1.14	0.09241	-0.491000	0.06555	.	.	-0.821000	0.02958	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.15	3252.3	35	chr19	54830178	.	G	C	3252.3	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.995e+00;DP=4479;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.62;MQRankSum=-1.808e+01;QD=1.58;ReadPosRankSum=2.10;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:447,0:447:99:.:.:0,120,1800	14	0	6	1
chr19	54830217	54830217	T	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.T1277C:p.I426T	.	.	490	959	60	13	0	86	0.0429142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.002	B	0.007	B	.	.	1.000	N	0.895	L	7.02	T	-0.948	T	0.001	T	0.085	-3.212	0.001	-0.727	-0.235	-0.860	.	0.031	0.00252436282351	.	.	.	.	.	.	.	.	.	.	.	.	.	rs199822561	1.447e-06	6.26e-05	1.437e-06	1.458e-06	1.89e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.89e-06	0	0	0	8.482e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.053	0.38863	T	0.707	0.18732	T	0.001	0.07471	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.51	0.38214	L	7.01	0.00465	T	1.33	0.01107	N	0.136	0.15469	-0.9482	0.41279	T	0.001	0.00378	T	8	0.053025752	0.05429	T	0.002524	0.05037	T	0.031	0.07369	0.329	0.31357	0.0138822411134	0.00435	0.05436384389562955	0.05378	0.2842650222	0.30852	.	.	.	0.00346	0.02869	T	-0.377913	0.03211	T	-0.780622	0.02435	T	0.109476455881908	0.13368	T	.	.	.	0.060243543	0.12340	0.12511967	0.30151	0.060243543	0.12340	0.12511967	0.30150	-2.004	0.06104	T	.	.	0.127	0.34160	B	.;.;.	.;.;.	-0.422644	0.02129	0.203	0.1578796069653349	0.00399	0.00213	0.01210	N	AEFBI	0.035053	0.04446	N	-1.5374920893244	0.01609	0.07032718	-1.65054767699224	0.01373	0.06202174	1.82473746354949E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-0.727	0.10603	-0.855000	0.04403	.	.	-2.187000	0.00360	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.15	3351.3	35	chr19	54830217	.	T	C	3351.3	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.492e+00;DP=4457;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.63;MQRankSum=-1.828e+01;QD=1.65;ReadPosRankSum=4.76;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:447,0:447:99:.:.:0,120,1800	14	0	6	1
chr19	54830219	54830219	T	A	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.T1279A:p.L427M	.	.	490	958	61	13	0	87	0.0434348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.015	B	0.004	B	.	.	1.000	N	0.05	N	7.16	T	-0.949	T	0.001	T	0.116	-0.161	3.214	0.569	-0.221	-0.021	.	0.033	0.00220836784564	.	.	1.752e-05	0	0	0	0	3.156e-05	0	0	1.29e-05	2	154602	rs200821495	2.17e-06	0.0009	0	4.372e-06	9.449e-07	5.8e-07	1.6e-07	.	.	0	0	0	0	0	0	9.449e-07	3.512e-05	0	7.376e-06	0.0005	1.429e-05	0	1.625e-05	0	0	.	.	0	0	0	0	0	0	0	1.625e-05	0	0	0.036	0.43708	D	0.044	0.49942	D	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	7.15	0.00440	T	0.02	0.07155	N	0.097	0.09066	-0.9488	0.41177	T	0.001	0.00255	T	8	0.059903473	0.07273	T	0.002208	0.04178	T	0.033	0.08068	0.343	0.33626	0.0611884634855	0.05136	0.06365489919836881	0.06304	0.217370059748	0.24259	.	.	.	0.001032	0.00564	T	-0.359885	0.04136	T	-0.754727	0.03305	T	0.0475029693969738	0.05054	T	.	.	.	0.12672478	0.29674	0.09114859	0.21413	0.12672478	0.29673	0.09114859	0.21413	-2.726	0.11147	T	.	.	0.087	0.11027	B	.;.;.	.;.;.	-0.079285	0.03768	0.787	0.57251924956472933	0.05728	0.00098	0.00638	N	AEFBI	0.020111	0.00761	N	-1.48858900803104	0.01930	0.08470691	-1.56128690325375	0.01899	0.08661785	1.77709840166136E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	-0.346000	0.07809	.	.	-2.056000	0.00415	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.15	3297.3	35	chr19	54830219	.	T	A	3297.3	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.982e+00;DP=4460;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.66;MQRankSum=-1.825e+01;QD=1.62;ReadPosRankSum=4.19;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:447,0:447:99:.:.:0,120,1800	14	0	6	1
chr19	54830226	54830226	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.C1286T:p.T429M	.	.	491	956	62	13	0	88	0.044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.226	B	0.042	B	.	.	1.000	N	0.66	N	7.16	T	-0.970	T	0.001	T	0.116	-0.776	0.741	-1.01	-0.398	-1.561	.	0.003	0.00266394809513	7.9e-05	.	4.38e-05	0.0004	0	0	0	1.578e-05	0	0	7.12e-05	11	154602	rs72629105	2.892e-06	0.0008	1.435e-06	4.369e-06	2.833e-06	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.833e-06	1.754e-05	0	2.894e-05	0.0005	4.202e-05	1.496e-05	7.701e-05	9.76e-06	5.56e-06	2.041e-05	1.066e-05	7.701e-05	0	0	0	0	0	0	1.605e-05	0	0	0.054	0.52492	T	0.299	0.22359	T	0.122	0.26746	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	0.95	0.23787	L	7.16	0.00445	T	0.53	0.04022	N	0.061	0.03726	-0.9699	0.37220	T	0.001	0.00287	T	8	0.04146093	0.02803	T	0.002664	0.05434	T	0.003	0.00094	.	.	0.0482279557977	0.04254	0.1972985884992638	0.19646	0.240531653146	0.26595	.	.	.	0.001518	0.00960	T	-0.551009	0.00288	T	-0.749827	0.03492	T	0.0218708623688418	0.00894	T	.	.	.	0.024346609	0.01257	0.069218	0.14554	0.024346609	0.01257	0.069218	0.14554	-2.712	0.13893	T	.	.	0.079	0.09385	B	.;.;.	.;.;.	-0.578230	0.01633	0.113	0.60277366403116528	0.06425	0.00031	0.00285	N	AEFBI	0.021009	0.00889	N	-1.21141140468678	0.04833	0.218967	-1.35673268790221	0.03727	0.1744511	2.06319095939035E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-1.01	0.09650	-1.643000	0.02106	.	.	-2.138000	0.00378	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.15	3090.3	35	chr19	54830226	.	C	T	3090.3	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.236e+00;DP=4472;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.69;MQRankSum=-1.825e+01;QD=1.51;ReadPosRankSum=2.95;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:447,0:447:99:.:.:0,120,1800	14	0	6	1
chr19	54830253	54830253	C	-	exonic	KIR3DL1	.	frameshift deletion	KIR3DL1:NM_001322168:exon9:c.1313delC:p.S438Ffs*6	.	.	484	969	56	13	0	82	0.0405941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.228e-07	4.922e-05	0	1.456e-06	9.442e-07	0	0	.	.	0	0	0	0	0	0	9.442e-07	0	0	0	4.801e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2796.99	35	chr19	54830252	.	TC	T	2796.99	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-2.582e+00;DP=4357;ExcessHet=1.7912;FS=0.000;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=58.62;MQRankSum=-1.642e+01;QD=1.45;ReadPosRankSum=-1.343e+00;SOR=0.700	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:447,0:447:99:.:.:0,120,1800	15	0	6	0
chr19	54830256	54830258	AAG	-	exonic	KIR3DL1	.	nonframeshift deletion	KIR3DL1:NM_001322168:exon9:c.1316_1318del:p.C439_T445delinsFLPISTTVRP*	.	.	491	962	56	13	0	82	0.0408774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.446e-06	4.922e-05	1.435e-06	1.456e-06	1.888e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.888e-06	0	0	0	4.808e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	2545.27	35	chr19	54830255	.	AAAG	A	2545.27	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-1.717e+00;DP=4318;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.64;MQRankSum=-1.636e+01;QD=1.34;ReadPosRankSum=-1.346e+00;SOR=0.725	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:447,0:447:99:.:.:0,120,1800	14	0	6	1
chr19	54835088	54835088	T	G	exonic	KIR2DS4	.	nonsynonymous SNV	KIR2DS4:NM_001281971:exon2:c.T44G:p.L15W	.	.	436	1020	60	6	0	72	0.0340909	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	.	0.0015	0.0006	0.0005	0.0002	0.0020	0.0021	0.0035	0.0009	0.0008452	22	26028	rs200101952	0.0004	0.0030	0.0003	0.0005	0.0017	0.0003	0.0003	0.0014	0.0013	9.206e-05	0.0007	0.0004	0.0004	0.0011	0.0002	0.0002	0.0002	0.0017	0.0004	0.0042	0.0004	0.0004	0.0008	0.0003	0.0003	0.0004	0.0003	0.0002	0	0.0002	0.0006	0.0002	0.0006	0	0.0005	0.0021	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	1657.68	38	chr19	54835088	.	T	G	1657.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.53;DP=2038;ExcessHet=0.3300;FS=2.369;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=56.00;MQRankSum=-7.490e+00;QD=5.23;ReadPosRankSum=-1.724e+00;SOR=0.841	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:139,0:139:99:.:.:0,120,1800	18	0	3	0
chr19	54837615	54837615	A	C	exonic	KIR2DS4	.	nonsynonymous SNV	KIR2DS4:NM_001281971:exon3:c.A110C:p.H37P	.	.	497	1014	4	7	0	18	0.00879765	.	.	3393472	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0005	0	0	0.0002	0	0.0002	0	0.0035	0.0004075	63	154602	rs1143507	0.0003	0.0078	0.0002	0.0004	0.0032	0.0003	0.0003	0.0029	0.0028	6.182e-05	9.708e-05	0.0002	0.0001	0.0001	0.0007	0.0001	0.0004	0.0032	0.0006	0.0074	0.0005	0.0006	0.0035	0.0005	0.0004	0.0020	0.0016	0.0009	0	0.0005	0.0007	0	0.0002	0	0.0003	0	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	3992.33	39	chr19	54837615	.	A	C	3992.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.45;DP=1518;ExcessHet=0.0000;FS=3.142;InbreedingCoeff=0.3000;MLEAC=1;MLEAF=0.025;MQ=59.65;MQRankSum=-1.800e+00;QD=12.59;ReadPosRankSum=0.109;SOR=0.895	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	19	0	1	1
chr19	54837828	54837828	C	T	exonic	KIR2DS4	.	nonsynonymous SNV	KIR2DS4:NM_001281971:exon3:c.C323T:p.P108L	.	.	421	1099	1	1	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.366e-05	0	0	0	0	0	0.0035	0.0001	3.23e-05	5	154602	rs748596446	2.272e-05	2.331e-05	7.056e-06	3.858e-05	0.0004	1.644e-05	1.407e-05	0.0003	0.0002	0	0	0	0	0	0.0002	9.274e-07	3.455e-05	0.0004	3.495e-05	3.334e-05	0	7.198e-05	0.0012	1.322e-05	8.42e-06	0.0005	0.0003	0	0	0	0	0	0	0	0	0	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	6908.08	39	chr19	54837828	.	C	T	6908.08	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.020e-01;DP=1685;ExcessHet=0.0000;FS=18.951;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=59.29;MQRankSum=13.98;QD=27.30;ReadPosRankSum=3.16;SOR=1.124	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	20	1	0	0
chr19	54847203	54847203	T	0	exonic	KIR2DS1;KIR2DS2;KIR2DS3;KIR2DS4;KIR2DS5;KIR3DS1;LOC102725023;LOC112268355	.	.	.	.	.	377	455	672	5	13	695	0.428392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	15952.71	34	chr19	54847203	.	T	C,*	15952.71	.	AC=11,6;AF=0.262,0.143;AN=42;BaseQRankSum=-1.075e+00;DP=8145;ExcessHet=25.1139;FS=1.133;InbreedingCoeff=-0.6800;MLEAC=11,6;MLEAF=0.262,0.143;MQ=59.51;MQRankSum=-4.222e+00;QD=2.08;ReadPosRankSum=-1.400e-01;SOR=0.815	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0,0:33:99:.:.:0,99,1217,99,1217,1217	4	0	11	0
chr19	54855625	54855625	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A662T:p.Y221F	.	.	417	757	348	0	0	348	0.186896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.957	D	0.987	U	1.000	N	1.885	L	5.76	T	-0.914	T	0.007	T	0.13	2.147	13.14	-0.254	-0.134	-1.675	3.712	0.019	0.000464580640836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs953284565	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.297	0.22084	T	0.998	0.73220	D	0.957	0.69900	D	0.987012	0.08056	U	0.989616	1	0.08975	N	1.825	0.47900	L	5.76	0.00695	T	-2.9	0.60827	D	0.098	0.12770	-0.9144	0.46298	T	0.007	0.02518	T	10	0.1624504	0.30445	T	4.65E-4	0.00116	T	0.019	0.03383	0.518	0.61915	0.336892272479	0.33291	0.018868245159557127	0.01840	1.60845377238	0.88855	0.403694212437	0.25583	T	0.067962	0.33336	T	-0.305796	0.08124	T	-0.677031	0.07167	T	0.537836849689484	0.34024	D	.	.	.	0.19793491	0.41677	0.16741675	0.38624	0.19793491	0.41677	0.16741675	0.38624	-6.639	0.51350	T	.	.	0.148	0.32589	B	.;.	.;.	0.893731	0.12673	9.197	0.95973909104232413	0.28337	0.00299	0.01594	N	AEFBI	0.032299	0.03618	N	-0.732235372597301	0.15120	0.7592366	-0.957408281364291	0.10751	0.5435199	1.67992491567851E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	-0.254	0.12350	-0.950000	0.03999	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5937:0.4063:0.0:0.0	3.712	0.07954	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	20296.38	88	chr19	54855625	.	A	T	20296.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-8.030e-01;DP=5048;ExcessHet=17.4423;FS=6.158;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=57.76;MQRankSum=-1.439e+01;QD=4.26;ReadPosRankSum=0.340;SOR=0.588	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,102,1496	6	0	15	0
chr19	54855628	54855628	A	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A665G:p.E222G	.	.	417	765	340	0	0	340	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.999	D	0.99	D	0.407	U	1.000	N	0.715	N	5.81	T	-0.864	T	0.005	T	0.109	0.702	7.744	0.993	0.705	-1.951	4.242	0.018	0.0011106169865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs985925024	6.844e-07	2.052e-06	1.362e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.118	0.28148	T	0.271	0.22291	T	0.999	0.77913	D	0.99	0.78936	D	0.407241	0.04570	U	1.688890	1	0.08975	N	0.38	0.12130	N	5.81	0.00662	T	-1.77	0.41809	N	0.087	0.10769	-0.8640	0.50973	T	0.005	0.01833	T	10	0.0910846	0.15926	T	0.001111	0.01336	T	0.018	0.03083	0.409	0.44395	0.184867976434	0.18130	0.04741152337579393	0.04684	1.9288275753	0.93111	0.312949419022	0.12353	T	0.061579	0.31691	T	-0.358922	0.04191	T	-0.753343	0.03358	T	0.0479596368968487	0.05137	T	.	.	.	0.038775276	0.05231	0.055304885	0.09676	0.038775276	0.05230	0.055304885	0.09675	-4.68	0.36840	T	.	.	0.068	0.03552	B	.;.	.;.	0.681116	0.10498	7.211	0.93748499984386979	0.23687	0.00095	0.00623	N	AEFBI	0.022196	0.01079	N	-0.906883655702748	0.10679	0.5115434	-1.03393035090106	0.09045	0.4478514	2.60640366773723E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	0.993	0.18943	-0.810000	0.04612	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	1.0:0.0:0.0:0.0	4.242	0.10106	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	19524.38	88	chr19	54855628	.	A	G	19524.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.458e+00;DP=5081;ExcessHet=17.4423;FS=6.361;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=57.81;MQRankSum=-1.448e+01;QD=4.07;ReadPosRankSum=0.351;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,102,1496	6	0	15	0
chr19	54855667	54855668	AG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_001242867:exon5:c.704_705del:p.Q235Rfs*10	.	.	415	977	130	0	0	130	0.06238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3948.51	88	chr19	54855666	.	CAG	C	3948.51	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-2.013e+00;DP=3294;ExcessHet=2.5830;FS=18.051;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.18;MQRankSum=-1.766e+01;QD=1.78;ReadPosRankSum=-6.440e-01;SOR=1.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,102,1496	14	0	7	0
chr19	54855669	54855669	-	CA	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_001242867:exon5:c.706_707insCA:p.G237Qfs*5	.	.	418	973	131	0	0	131	0.0630717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3954.51	88	chr19	54855669	.	G	GCA	3954.51	.	AC=7;AF=0.167;AN=42;BaseQRankSum=0.566;DP=3235;ExcessHet=2.5830;FS=18.051;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.30;MQRankSum=-1.766e+01;QD=1.78;ReadPosRankSum=-9.070e-01;SOR=1.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,102,1496	14	0	7	0
chr19	54855702	54855702	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.T739A:p.W247R	.	.	418	1096	7	0	1	8	0.00318327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.005	B	0.007	N	1.000	N	-0.98	N	4.12	T	-0.955	T	0.004	T	0.036	-2.621	0	-1.99	-2.052	-2.481	4.218	0.006	0.000513965063079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.844e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.23	0.25827	T	0.0	0.02946	B	0.002	0.06944	B	0.007305	0.01163	N	6.284920	1	0.08975	N	-0.905	0.01334	N	4.12	0.02891	T	2.77	0.00192	N	0.074	0.05287	-0.9554	0.40024	T	0.004	0.01159	T	10	0.0278669	0.00925	T	5.14E-4	0.00163	T	0.006	0.00375	0.383	0.40134	0.148003135375	0.14442	0.03313264070354783	0.03261	2.56269628182	0.97972	0.291219711304	0.09100	T	0.013561	0.11709	T	-0.45857	0.01003	T	-0.896481	0.00528	T	0.0652051243997332	0.07961	T	.	.	.	0.038792573	0.05237	0.03620834	0.03021	0.038792573	0.05237	0.03620834	0.03021	-1.24	0.01520	T	.	.	0.056	0.00444	B	.;.	.;.	-1.017771	0.00746	0.023	0.28703814929394555	0.01487	0.00064	0.00463	N	AEFBI	0.018163	0.00530	N	-2.08547964821295	0.00138	0.005896707	-2.12188863542438	0.00167	0.007337207	3.705165035272E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	-1.99	0.07047	-2.672000	0.00915	.	.	-3.099000	0.00124	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4704:0.3018:0.2278	4.218	0.09998	982	0.03397	Immunoglobulin|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	218.98	88	chr19	54855702	.	T	A	218.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=6.15;DP=2054;ExcessHet=0.0000;FS=44.293;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.70;MQRankSum=-6.161e+00;QD=0.57;ReadPosRankSum=-1.677e+00;SOR=5.610	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,102,1496	20	0	1	0
chr19	54859084	54859084	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_006737:exon6:c.C955T:p.P319S,	.	.	416	1029	76	1	0	78	0.0365169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.964	D	0.599	P	.	.	1.000	N	0.95	L	7.02	T	-0.867	T	0.001	T	0.044	-0.290	2.614	-0.604	-0.204	0.241	2.974	0.064	0.000624441967726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.026e-05	1.231e-05	4.085e-06	1.651e-05	1.259e-05	6.16e-06	4.89e-06	7.31e-06	5.72e-06	0	0	0	0	0	0	1.259e-05	1.656e-05	0	6.572e-06	2.625e-05	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.089	0.32141	T	0.425	0.13912	T	0.886	0.48745	P	0.383	0.43945	B	.	.	.	.	1	0.08975	N	0.41	0.12415	N	7.02	0.00454	T	-2.97	0.61865	D	0.064	0.03613	-0.8674	0.50724	T	0.001	0.00467	T	9	0.09483707	0.16894	T	6.24E-4	0.00303	T	0.064	0.18567	0.248	0.18447	0.117506650769	0.11410	0.04836548424617068	0.04779	1.71135710155	0.90445	0.356161952019	0.18825	T	0.059672	0.31178	T	-0.393334	0.02559	T	-0.802774	0.01834	T	0.34234310394307	0.26717	T	.	.	.	0.039089512	0.05330	0.078269705	0.17516	0.039089512	0.05330	0.078269705	0.17516	-2.822	0.08388	T	.	.	0.088	0.11606	B	.	.	0.788312	0.11583	8.178	0.84617625941685071	0.15397	0.00022	0.00232	N	AEFGBI	0.014378	0.00226	N	-0.746472741392689	0.14729	0.7361992	-0.985325967743381	0.10114	0.5073769	0.00905559668788433	0.11788	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.851	-0.604	0.11043	-0.027000	0.12319	.	.	-0.464000	0.05108	0.037000	0.20830	0.000000	0.08366	0.012000	0.09680	0.0:0.3552:0.0:0.6448	2.974	0.05570	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	1957.92	34	chr19	54859084	.	C	T	1957.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.106e+00;DP=2332;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=44.36;MQRankSum=-6.845e+00;QD=1.26;ReadPosRankSum=-1.042e+00;SOR=0.662	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	17	0	4	0
chr19	54859097	54859098	GG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_006737:exon6:c.968_969del:p.W323Sfs*62,	.	.	418	1027	76	1	0	78	0.0365854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1875.88	34	chr19	54859096	.	TGG	T	1875.88	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.373e+00;DP=2349;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=43.43;MQRankSum=-6.131e+00;QD=1.19;ReadPosRankSum=0.420;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485	17	0	4	0
chr19	54859099	54859099	-	AT	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_006737:exon6:c.970_971insAT:p.P324Hfs*20,	.	.	419	1023	79	1	0	81	0.0380818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1875.88	34	chr19	54859099	.	C	CAT	1875.88	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.465e+00;DP=2344;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=43.29;MQRankSum=-6.131e+00;QD=1.19;ReadPosRankSum=0.484;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485	17	0	4	0
chr19	54859126	54859126	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_006737:exon6:c.T997A:p.S333T,	.	.	422	1024	75	1	0	77	0.0362353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.011	B	.	.	1.000	N	-1.22	N	7.11	T	-0.954	T	0.000	T	0.046	-3.410	0.001	-1.7	-2.276	-2.170	0.066	0.058	0.000592853644405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.969e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.952	0.02603	T	0.002	0.09854	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.145	0.00921	N	7.11	0.00444	T	1.51	0.00728	N	0.047	0.01911	-0.9540	0.40274	T	0.000	0.00114	T	9	0.020475209	0.00472	T	5.93E-4	0.00260	T	0.058	0.16647	0.251	0.18912	0.0482279557977	0.04254	0.03848246725599166	0.03794	1.5778815892	0.88350	0.446997404099	0.31534	T	0.001513	0.00960	T	-0.446873	0.01178	T	-0.879678	0.00656	T	0.0579299394948747	0.06839	T	.	.	.	0.035080478	0.04062	0.03344365	0.02239	0.035080478	0.04062	0.03344365	0.02239	-2.536	0.06032	T	.	.	0.060	0.00949	B	.	.	-0.849207	0.01014	0.042	0.38981453092339813	0.02662	0.00032	0.00291	N	AEFGBI	0.016009	0.00335	N	-2.17322769998613	0.00088	0.003762631	-2.19645317612939	0.00114	0.005011955	0.249042233931105	0.18659	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.851	-1.7	0.07721	-2.450000	0.01084	.	.	-2.250000	0.00337	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2879:0.2416:0.223:0.2475	0.066	0.00016	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	1568.68	34	chr19	54859126	.	T	A	1568.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.635e+00;DP=2070;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=42.42;MQRankSum=-4.951e+00;QD=1.50;ReadPosRankSum=4.95;SOR=0.682	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	3	0
chr19	54865810	54865810	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T955C:p.C319R	.	.	403	855	264	0	0	264	0.133739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.001	B	.	.	1.000	N	-0.69	N	7.32	T	-0.976	T	0.001	T	0.094	-0.882	0.475	-0.763	-1.126	-1.523	.	0.009	0.00110318286967	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs796466301	7.457e-05	0.0011	7.798e-05	7.115e-05	0.0002	6.259e-05	5.845e-05	9.469e-05	7.503e-05	0.0001	0.0002	0.0002	5.078e-05	0	0	6.593e-05	3.482e-05	0.0002	0	3.285e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.134	0.26300	T	0.451	0.12920	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999999	0.08975	N	-1.04	0.01097	N	7.31	0.00423	T	0.16	0.05217	N	0.083	0.10769	-0.9760	0.35904	T	0.001	0.00188	T	8	0.04906112	0.04441	T	0.001103	0.01312	T	0.009	0.00846	0.442	0.49811	0.119812018005	0.11559	0.09452283820028774	0.09384	2.56269628182	0.97972	0.333641290665	0.15483	T	7.89E-4	0.00376	T	-0.415095	0.01840	T	-0.834032	0.01193	T	0.059155964491615	0.07034	T	.	.	.	0.106677674	0.25223	0.1821225	0.41119	0.106677674	0.25223	0.1821225	0.41119	1.528	0.00757	T	.	.	0.054	0.02639	B	.;.	.;.	-0.404554	0.02196	0.218	0.45649119719455972	0.03599	0.00039	0.00329	N	AEFBI	0.015175	0.00277	N	-1.72878488187199	0.00744	0.03215037	-1.79035493063549	0.00791	0.03527497	4.27305037267331E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.609	-0.763	0.10475	-1.665000	0.02067	.	.	-1.747000	0.00693	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	31702.71	90	chr19	54865810	.	T	C	31702.71	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-1.293e+00;DP=3755;ExcessHet=14.4320;FS=1.258;InbreedingCoeff=-0.5016;MLEAC=14;MLEAF=0.333;MQ=58.31;MQRankSum=-9.487e+00;QD=9.30;ReadPosRankSum=1.76;SOR=0.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1336	7	0	14	0
chr19	54865825	54865825	G	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G970A:p.V324I	.	.	402	857	263	0	0	263	0.13303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.259	B	0.269	B	.	.	1.000	N	0.7	N	7.31	T	-0.975	T	0.001	T	0.028	-1.590	0.014	-1.58	-0.698	-0.374	3.986	0.008	0.00055253107299	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796782943	6.843e-07	1.368e-06	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.575e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.164	0.24468	T	0.419	0.14158	T	0.002	0.09854	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	1.11	0.28643	L	7.18	0.00448	T	-0.21	0.10656	N	0.072	0.04547	-0.9746	0.36213	T	0.001	0.00348	T	9	0.07256496	0.10849	T	5.53E-4	0.00208	T	0.008	0.00669	0.367	0.37524	0.241078983079	0.23725	0.04157770004610267	0.04102	0.0027843863192	0.00238	0.408555775881	0.26256	T	0.002608	0.01994	T	-0.428714	0.01509	T	-0.853595	0.00915	T	0.0821466851244207	0.10259	T	.	.	.	0.022919703	0.00990	0.029417474	0.01278	0.022919703	0.00989	0.029417474	0.01278	-3.748	0.20029	T	.	.	0.070	0.08033	B	.;.	.;.	-1.320914	0.00420	0.008	0.32275471755800766	0.01862	0.00127	0.00790	N	AEFBI	0.021088	0.00901	N	-1.46961496636215	0.02067	0.09089394	-1.60118741659373	0.01648	0.07480784	3.08807583727834E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.835000	0.04494	.	.	-0.482000	0.05067	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5465:0.0:0.4535:0.0	3.986	0.09005	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.35	30212.51	90	chr19	54865825	.	G	A	30212.51	.	AC=14;AF=0.350;AN=40;BaseQRankSum=0.417;DP=3951;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5273;MLEAC=14;MLEAF=0.350;MQ=58.36;MQRankSum=-1.018e+01;QD=8.39;ReadPosRankSum=2.06;SOR=0.640	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1336	6	0	14	1
chr19	54865847	54865847	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T992C:p.V331A	.	.	401	853	268	0	0	268	0.135765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.988	D	0.985	D	0.029	N	1.000	N	0.125	N	7.27	T	-0.917	T	0.002	T	0.051	-1.319	0.034	-1.58	-1.598	-0.458	5.878	0.065	0.000400803919065	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224475740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.29823	T	0.986	0.02387	T	0.98	0.59353	D	0.966	0.71341	D	0.029014	0.01695	N	4.101880	1	0.08975	N	0.395	0.12235	N	7.27	0.00437	T	-0.92	0.24676	N	0.126	0.11912	-0.9172	0.45931	T	0.002	0.00585	T	10	0.07284033	0.10928	T	4.01E-4	0.00071	T	0.065	0.18881	0.494	0.58206	0.0297737177859	0.01360	0.06284081072503588	0.06223	0.00213134346531	0.00180	0.403696119785	0.25583	T	0.001044	0.00572	T	-0.400058	0.02313	T	-0.812432	0.01611	T	0.139050558209419	0.16193	T	.	.	.	0.031689838	0.03054	0.03537673	0.02778	0.031689838	0.03053	0.03537673	0.02778	-6.306	0.48770	T	.	.	0.101	0.17488	B	.;.	.;.	0.454312	0.08244	4.984	0.26484307624393894	0.01271	0.00052	0.00397	N	AEFBI	0.015930	0.00328	N	-1.33586624352162	0.03274	0.1459584	-1.54872497766398	0.01985	0.0906649	1.28470643324931E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.401000	0.07293	.	.	-0.458000	0.05121	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.0:0.5995:0.0:0.4005	5.878	0.18089	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	31525.16	90	chr19	54865847	.	T	C	31525.16	.	AC=14;AF=0.333;AN=42;BaseQRankSum=2.74;DP=3983;ExcessHet=14.4320;FS=0.597;InbreedingCoeff=-0.5108;MLEAC=14;MLEAF=0.333;MQ=58.27;MQRankSum=-1.006e+01;QD=8.70;ReadPosRankSum=0.977;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1336	7	0	14	0
chr19	54865852	54865852	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T997A:p.F333I	.	.	399	856	267	0	0	267	0.134917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.521	N	1.000	N	-2.6	N	7.41	T	-0.951	T	0.000	T	0.186	-2.169	0.005	-0.556	-1.246	-2.075	1.833	0.025	0.000552976428505	.	.	8.242e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs2915986	3.52e-06	3.467e-06	4.204e-06	2.829e-06	3.699e-06	1.03e-06	7.5e-07	8.7e-07	5.8e-07	0	0	0	0	0	0	3.699e-06	1.7e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.520826	0.11743	N	0.610798	1	0.08975	N	-2.095	0.00157	N	7.34	0.00418	T	2.41	0.00335	N	0.177	0.19055	-0.9514	0.40730	T	0.000	0.00075	T	10	0.028288513	0.00963	T	5.53E-4	0.00208	T	0.025	0.05312	0.361	0.36548	0.0401082797425	0.02173	0.037563278247634765	0.03702	0.00194719441549	0.00165	0.439581662416	0.30520	T	0.002307	0.01700	T	-0.359524	0.04156	T	-0.754208	0.03325	T	0.102266789170519	0.12604	T	.	.	.	0.029341966	0.02414	0.027775709	0.00957	0.029341966	0.02413	0.027775709	0.00957	1.774	0.00144	T	.	.	0.031	0.00001	B	.;.	.;.	-1.192069	0.00539	0.013	0.21394745277116367	0.00813	0.00027	0.00265	N	AEFBI	0.015044	0.00268	N	-2.17185589876208	0.00089	0.003788383	-2.12745077528888	0.00162	0.00713515	4.11374997373906E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.556	0.11213	-3.473000	0.00511	.	.	-1.423000	0.01123	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3789:0.3119:0.0:0.3092	1.833	0.02945	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	28126.08	90	chr19	54865852	.	T	A	28126.08	.	AC=13;AF=0.325;AN=40;BaseQRankSum=-1.146e+00;DP=3964;ExcessHet=11.8493;FS=0.602;InbreedingCoeff=-0.4757;MLEAC=13;MLEAF=0.325;MQ=58.29;MQRankSum=-1.050e+01;QD=8.38;ReadPosRankSum=0.494;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1336	7	0	13	1
chr19	54865864	54865864	C	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1009A:p.L337I	.	.	400	855	267	0	0	267	0.135053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.01	B	0.021	B	0.026	N	1.000	N	-0.145	N	7.01	T	-0.867	T	0.001	T	0.124	-3.306	0.001	-1.51	-3.388	-1.355	6.404	0.013	0.000772956067362	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1296399738	8.417e-06	0.0011	1.256e-05	4.23e-06	7.065e-05	4.49e-06	3.55e-06	1.874e-05	1.019e-05	0	7.065e-05	0	0	1.911e-05	0	3.683e-06	0	4.841e-05	0	2.628e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.509	0.07521	T	1.0	0.01155	T	0.01	0.15535	B	0.009	0.14300	B	0.025651	0.01634	N	972.142000	1	0.08975	N	-0.22	0.03977	N	6.79	0.00488	T	1.13	0.01297	N	0.193	0.21188	-0.8671	0.50746	T	0.001	0.00287	T	10	0.037043363	0.02035	T	7.73E-4	0.00568	T	0.013	0.01715	0.474	0.55020	0.0551355673512	0.04727	0.03483597995631442	0.03430	0.00231030591297	0.00198	0.440028011799	0.30580	T	0.003421	0.02829	T	-0.38056	0.03091	T	-0.784425	0.02323	T	0.24141052365303	0.22484	T	.	.	.	0.02956708	0.02474	0.027299805	0.00872	0.02956708	0.02473	0.027299805	0.00872	-2.832	0.08482	T	.	.	0.067	0.02428	B	.;.	.;.	-1.733188	0.00181	0.003	0.39800349715696198	0.02769	0.00031	0.00285	N	AEFBI	0.015044	0.00268	N	-2.51786959481438	0.00014	0.0006260781	-2.5670260733213	0.00016	0.0007120855	0.00421926217040744	0.10461	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.756	-1.51	0.08207	-0.986000	0.03857	.	.	-4.822000	0.00020	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4531:0.5469:0.0:0.0	6.404	0.20859	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	26881.91	90	chr19	54865864	.	C	A	26881.91	.	AC=13;AF=0.325;AN=40;BaseQRankSum=-1.450e-01;DP=3884;ExcessHet=11.8493;FS=0.608;InbreedingCoeff=-0.4745;MLEAC=13;MLEAF=0.325;MQ=58.33;MQRankSum=-9.748e+00;QD=8.20;ReadPosRankSum=-7.570e-01;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1336	7	0	13	1
chr19	54865870	54865870	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1015T:p.L339F	.	.	404	855	263	0	0	263	0.1333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.999	D	0.997	D	0.959	U	1.000	N	1.445	L	6.74	T	-0.940	T	0.004	T	0.25	0.087	4.467	-1.58	-0.826	-0.444	2.405	0.046	0.000653011748056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338748485	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.749	0.05152	T	0.137	0.33894	T	0.999	0.77913	D	0.993	0.81110	D	0.959071	0.07705	U	1.034180	1	0.08975	N	1.67	0.42885	L	6.68	0.00576	T	-0.57	0.19297	N	0.144	0.15888	-0.9404	0.42552	T	0.004	0.01470	T	10	0.067382395	0.09379	T	6.53E-4	0.00350	T	0.046	0.12618	0.447	0.50629	0.0482279557977	0.04254	0.03706772757247262	0.03653	0.00235242544378	0.00204	0.419023424387	0.27702	T	0.010928	0.09812	T	-0.282597	0.10395	T	-0.643707	0.09401	T	0.149730133327665	0.17082	T	.	.	.	0.029493352	0.02453	0.034858517	0.02630	0.029493352	0.02453	0.034858517	0.02630	-4.814	0.34754	T	.	.	0.092	0.13362	B	.;.	.;.	0.692112	0.10608	7.311	0.86832300325457512	0.16803	0.00214	0.01215	N	AEFBI	0.025492	0.01754	N	-1.08763022436649	0.06870	0.3175028	-1.36423289139558	0.03641	0.1702588	3.46547822766471E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.403000	0.07275	.	.	-0.690000	0.04136	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.414:0.3227:0.2634	2.405	0.04140	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	26642.8	90	chr19	54865870	.	C	T	26642.8	.	AC=13;AF=0.325;AN=40;BaseQRankSum=1.75;DP=3832;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.325;MQ=58.31;MQRankSum=-9.500e+00;QD=8.27;ReadPosRankSum=-1.440e+00;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1336	7	0	13	1
chr19	54865885	54865885	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T1030C:p.Y344H	.	.	413	843	266	0	0	266	0.13627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.008	B	0.001	N	1.000	N	-2.525	N	7.27	T	-0.904	T	0.000	T	0.061	-2.893	0.001	-0.356	-0.649	-0.514	4.953	0.052	0.000928668473944	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs2915987	4.899e-06	0.0012	8.359e-06	1.406e-06	6.971e-05	2.04e-06	1.31e-06	1.849e-05	1.012e-05	0	6.971e-05	0	2.532e-05	0	0	1.838e-06	0	1.202e-05	6.588e-06	7.887e-05	0	1.349e-05	2.418e-05	0	0	.	.	2.418e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.639	0.06992	T	0.001	0.07471	B	0.004	0.10090	B	0.000834	0.00693	N	964.490000	1	0.08975	N	-1.885	0.00247	N	7.23	0.00430	T	2.95	0.00151	N	0.108	0.11054	-0.9038	0.47583	T	0.000	0.00114	T	10	0.02607575	0.00783	T	9.29E-4	0.00911	T	0.052	0.14661	0.509	0.60540	0.0806252709748	0.07271	0.05856973815727529	0.05797	0.00203136714976	0.00170	0.461200088263	0.33475	T	0.002548	0.01934	T	-0.543293	0.00320	T	-0.842333	0.01064	T	0.055993546621464	0.06523	T	.	.	.	0.01972407	0.00509	0.030124722	0.01429	0.01972407	0.00508	0.030124722	0.01428	-0.36	0.01497	T	.	.	0.058	0.01810	B	.;.	.;.	-1.085193	0.00658	0.018	0.29891803236966757	0.01608	0.00013	0.00170	N	AEFBI	0.013335	0.00174	N	-2.32571740057804	0.00040	0.001704577	-2.25685884815932	0.00083	0.003659575	2.27817266838019E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.356	0.11957	-0.520000	0.06338	.	.	-3.331000	0.00095	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7076:0.0:0.2924	4.953	0.13373	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	23642.28	90	chr19	54865885	.	T	C	23642.28	.	AC=13;AF=0.325;AN=40;BaseQRankSum=3.17;DP=3617;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4940;MLEAC=14;MLEAF=0.350;MQ=58.28;MQRankSum=-9.078e+00;QD=7.87;ReadPosRankSum=-1.919e+00;SOR=0.730	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1336	7	0	13	1
chr19	54865888	54865888	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1033T:p.R345C	.	.	413	854	255	0	0	255	0.129903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.997	D	0.003	U	1.000	N	1.9	L	7.01	T	-0.926	T	0.005	T	0.315	0.191	5.027	0.792	0.706	-0.531	4.875	0.076	0.00070768877162	.	.	8.387e-06	0	0	0	0	1.53e-05	0	0	1.29e-05	2	154602	rs138402445	1.848e-05	1.847e-05	1.635e-05	2.064e-05	2.988e-05	1.266e-05	1.085e-05	1.461e-05	1.227e-05	2.988e-05	0	0	0	1.881e-05	0	2.159e-05	1.656e-05	0	6.58e-06	6.569e-06	0	1.347e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.049	0.50676	D	0.045	0.49390	D	0.998	0.73220	D	0.724	0.55036	P	0.003128	0.00941	U	719.913000	1	0.08975	N	2.18	0.61292	M	7.01	0.00466	T	-3.01	0.62518	D	0.177	0.25253	-0.9256	0.44772	T	0.005	0.01506	T	10	0.2351507	0.40570	T	7.08E-4	0.00454	T	0.076	0.22200	0.608	0.74063	0.377274123778	0.37341	0.04899285126321561	0.04842	0.00201032243671	0.00170	0.345741182566	0.17292	T	0.083108	0.36978	T	-0.280145	0.10652	T	-0.57654	0.14856	T	0.0767469108104706	0.09565	T	.	.	.	0.090401374	0.21151	0.072761305	0.15734	0.090401374	0.21151	0.072761305	0.15734	-5.468	0.41568	T	.	.	0.101	0.17488	B	.;.	.;.	1.700358	0.21659	15.29	0.78131642950480018	0.12168	0.00252	0.01388	N	AEFBI	0.036619	0.04908	N	-0.596483761697517	0.19051	0.9940639	-0.847282888163348	0.13353	0.6922374	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	-0.462000	0.06781	.	.	-0.557000	0.04870	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	22402.2	90	chr19	54865888	.	C	T	22402.2	.	AC=13;AF=0.325;AN=40;BaseQRankSum=2.84;DP=3561;ExcessHet=11.8493;FS=0.626;InbreedingCoeff=-0.4886;MLEAC=14;MLEAF=0.350;MQ=58.25;MQRankSum=-9.209e+00;QD=7.57;ReadPosRankSum=-1.902e+00;SOR=0.753	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1336	7	0	13	1
chr19	54865893	54865893	G	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G1038C:p.W346C	.	.	419	848	255	0	0	255	0.130702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.005	U	1.000	N	2.56	M	7.16	T	-0.938	T	0.005	T	0.423	0.755	7.999	0.792	0.706	0.774	4.875	0.087	0.000545132984031	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs150217832	6.846e-07	6.84e-07	1.362e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.055	0.48080	T	0.999	0.77913	D	0.995	0.83170	D	0.004823	0.01046	U	6.630260	0.999999	0.08975	N	2.65	0.77586	M	7.12	0.00449	T	-8.3	0.96976	D	0.417	0.45709	-0.9378	0.42963	T	0.005	0.01578	T	10	0.46326482	0.59415	T	5.45E-4	0.00196	T	0.087	0.25287	0.69	0.82748	0.115124310173	0.11017	0.06623851051609898	0.06562	0.0020945074082	0.00176	0.531311154366	0.43219	T	0.117344	0.43737	T	-0.156731	0.27265	T	-0.46291	0.26281	T	0.919087171554565	0.57763	D	.	.	.	0.27311128	0.50379	0.25889528	0.51629	0.27311128	0.50379	0.25889528	0.51629	-5.179	0.48189	T	.	.	0.297	0.52760	B	.;.	.;.	1.876161	0.23830	16.17	0.96792341091729295	0.31116	0.02255	0.06527	N	AEFBI	0.039311	0.05691	N	-0.326071486107245	0.28160	1.550996	-0.608238508299626	0.19282	1.03379	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	0.848000	0.27362	.	.	0.413000	0.20698	0.222000	0.24557	0.000000	0.08366	0.017000	0.10941	0.0:0.0:1.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	21734.24	90	chr19	54865893	.	G	C	21734.24	.	AC=13;AF=0.325;AN=40;BaseQRankSum=2.60;DP=3482;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4768;MLEAC=13;MLEAF=0.325;MQ=58.20;MQRankSum=-8.978e+00;QD=7.60;ReadPosRankSum=-2.084e+00;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1336	7	0	13	1
chr19	54866400	54866400	G	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon7:c.G1085C:p.G362A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	.	.	1.000	N	2.735	M	7.23	T	-0.913	T	0.003	T	0.08	0.487	6.642	-2.11	-1.688	-1.402	0.090	0.095	0.000423417664845	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.19	0.29639	T	1.0	0.90584	D	0.996	0.84481	D	.	.	.	.	1	0.08975	N	2.4	0.69460	M	7.19	0.00436	T	-2.21	0.49684	N	0.163	0.26717	-0.9129	0.46492	T	0.003	0.01092	T	9	0.14445096	0.27412	T	4.23E-4	0.00085	T	0.095	0.27398	0.423	0.46693	0.101711395817	0.09552	0.03599360065536904	0.03546	0.00235242544378	0.00204	0.470549821854	0.34755	T	0.01053	0.09498	T	-0.317909	0.07070	T	-0.694431	0.06135	T	0.143444240910188	0.16567	T	.	.	.	0.07335301	0.16386	0.09508204	0.22533	0.07335301	0.16386	0.09508204	0.22533	-5.242	0.40833	T	.	.	0.087	0.11414	B	.;.	.;.	0.289414	0.06659	3.158	0.85504812990797463	0.15934	0.00109	0.00694	N	AEFBI	0.019752	0.00715	N	-0.896962110927857	0.10913	0.5239664	-1.23759613733889	0.05317	0.2530564	1.75873566903414E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.05	-2.11	0.06787	-0.474000	0.06686	.	.	-1.225000	0.01333	0.016000	0.19238	0.000000	0.08366	0.001000	0.02609	0.2382:0.2095:0.2522:0.3002	0.090	0.00036	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	48.98	140	chr19	54866400	.	G	C	48.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.929e+00;DP=3468;ExcessHet=0.0000;FS=19.792;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.99;MQRankSum=-1.567e+01;QD=0.20;ReadPosRankSum=-2.120e-01;SOR=1.319	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485	20	0	1	0
chr19	54866420	54866420	C	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon7:c.C1105G:p.Q369E	.	.	420	771	331	0	0	331	0.176722	0.0001	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	.	.	1.000	N	-1.735	N	7.23	T	-0.988	T	0.000	T	0.038	-2.832	0	-1.86	-0.450	0.343	6.644	0.019	0.000487258690266	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs973541788	6.841e-07	8.893e-06	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.08	0.01032	N	7.15	0.00440	T	1.42	0.00936	N	0.047	0.01911	-0.9881	0.33077	T	0.000	0.00114	T	9	0.028343678	0.00967	T	4.87E-4	0.00143	T	0.019	0.03383	0.432	0.48171	0.139678290688	0.13603	0.030255114197267258	0.02974	0.00231557063093	0.00198	0.46007502079	0.33320	T	0.001004	0.00540	T	-0.420253	0.01704	T	-0.841441	0.01077	T	0.0475666406958597	0.05065	T	.	.	.	0.048541624	0.08476	0.04803189	0.07048	0.048541624	0.08476	0.04803189	0.07048	-3.597	0.17813	T	.	.	0.049	0.00120	B	.;.	.;.	-0.208194	0.03048	0.471	0.46700175483676853	0.03761	0.00016	0.00195	N	AEFBI	0.016061	0.00339	N	-1.82336724726666	0.00490	0.02110744	-1.81317678004361	0.00718	0.0319862	2.83414617026636E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.05	-1.86	0.07340	0.363000	0.20037	.	.	-0.318000	0.05900	0.220000	0.24536	0.000000	0.08366	0.002000	0.04165	0.0:0.5951:0.4049:0.0	6.644	0.22116	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	15435.48	140	chr19	54866420	.	C	G	15435.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-3.889e+00;DP=4431;ExcessHet=14.4320;FS=9.928;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=58.11;MQRankSum=-1.691e+01;QD=3.94;ReadPosRankSum=1.08;SOR=0.395	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485	7	0	14	0
chr19	54866533	54866533	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon8:c.A1119T:p.E373D	.	.	420	1022	80	0	0	80	0.0376648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.993	D	0.99	D	.	.	1.000	N	1.81	L	7.17	T	-0.887	T	0.003	T	0.119	0.708	7.775	-2.23	-0.191	0.244	3.962	0.049	0.000605757839165	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs372092512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.432	0.13634	T	0.989	0.62824	D	0.977	0.73820	D	.	.	.	.	1	0.08975	N	1.455	0.36767	L	7.15	0.00448	T	-1.33	0.33197	N	0.032	0.07535	-0.8872	0.49172	T	0.003	0.00832	T	9	0.09381515	0.16631	T	6.06E-4	0.00274	T	0.049	0.13647	0.278	0.23164	0.309530620856	0.30565	0.04776419956839925	0.04719	0.00263683917289	0.00224	0.397166699171	0.24675	T	0.009012	0.08229	T	-0.310709	0.07687	T	-0.684088	0.06738	T	0.0624436335153859	0.07548	T	.	.	.	0.069478154	0.15226	0.052691333	0.08732	0.069478154	0.15226	0.052691333	0.08731	-5.991	0.46204	T	.	.	0.123	0.25914	B	.;.	.;.	1.370321	0.17801	13.38	0.9555976710174543	0.27236	0.00357	0.01833	N	AEFBI	0.023672	0.01352	N	-0.665085175571445	0.17022	0.8724157	-0.948421509682792	0.10960	0.5553993	3.55301781292242E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.4	-2.23	0.06539	0.255000	0.18102	.	.	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3911:0.0:0.0:0.6089	3.962	0.08909	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	1160.99	140	chr19	54866533	.	A	T	1160.99	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.052;DP=5436;ExcessHet=0.6776;FS=29.613;InbreedingCoeff=-0.1067;MLEAC=4;MLEAF=0.095;MQ=58.36;MQRankSum=-2.122e+01;QD=0.61;ReadPosRankSum=0.502;SOR=2.870	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	17	0	4	0
chr19	54885268	54885268	C	A	exonic	FCAR	.	stopgain	FCAR:NM_133272:exon2:c.C68A:p.S23X	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	.	.	.	.	0.685	N	1.000	A	.	.	.	.	.	.	.	.	.	2.055	12.83	2.1	0.852	1.083	7.398	.	.	.	.	8.249e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs773603335	6.842e-06	6.84e-06	5.446e-06	8.252e-06	0.0002	3.46e-06	2.52e-06	8.35e-06	3.12e-06	0	0	0	5.038e-05	0	0.0002	5.397e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.684825	0.10226	N	0.788741	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.688	0.81559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210558	0.74883	D	0.0801617	0.75588	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive;.;.;.;.;.	.;.;High;.;.;.;.;.	7.182471	0.96239	35	0.98410676724863377	0.41169	0.02684	0.07317	N	AEFDBI	0.025566	0.01771	N	0.143827391951706	0.48520	3.063265	-0.24504354254119	0.29943	1.681704	2.4030892897795E-4	0.06095	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.19	2.1	0.26226	0.639000	0.24378	.	.	0.530000	0.24713	0.000000	0.06391	0.002000	0.18203	0.001000	0.02609	0.2597:0.7403:0.0:0.0	7.398	0.26119	976	0.04745	.;Immunoglobulin subtype;Immunoglobulin subtype;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1520.98	58	chr19	54885268	.	C	A	1520.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.109e+00;DP=1134;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=-6.050e-01;SOR=0.629	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr19	54888106	54888106	A	C	exonic	FCAR	.	nonsynonymous SNV	FCAR:NM_133277:exon2:c.A134C:p.D45A	.	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.938	D	0.050	N	1.000	N	2.475	M	2.74	T	-1.092	T	0.078	T	0.485	1.890	12.28	1.8	0.457	2.710	5.910	0.092	0.00200652602765	.	0.00119808	0.0006	0	8.643e-05	0	0	0.0002	0.0011	0.0037	0.0005433	84	154602	rs587716380	0.0003	0.0003	0.0002	0.0003	0.0035	0.0002	0.0002	0.0031	0.0030	0	2.236e-05	0	0	0	0.0009	4.407e-05	0.0003	0.0035	0.0002	0.0002	7.709e-05	0.0003	0.0040	0.0001	0.0001	0.0026	0.0022	2.407e-05	0	0	0	0	0	0	7.351e-05	0.0005	0.0040	0.071	0.49613	T	0.011	0.70582	D	1.0	0.90584	D	0.915	0.65091	D	0.050035	0.23108	N	0.213208	1	0.08975	N	2.325	0.66631	M	2.74	0.11730	T	-5.32	0.84525	D	0.358	0.47857	-1.0924	0.05144	T	0.078	0.30982	T	10	0.009690106	0.00218	T	0.002007	0.03642	T	0.092	0.26621	.	.	0.382087116544	0.37822	0.24075395532340407	0.23989	0.384340615699	0.39735	0.327450782061	0.14550	T	0.128474	0.45615	T	-0.468983	0.00862	T	-0.449174	0.27787	T	0.116993089604471	0.14132	T	.	.	.	0.19766687	0.41640	0.15770476	0.36863	0.19766687	0.41640	0.15770476	0.36862	-7.569	0.58094	D	.	.	0.777	0.76259	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.483547	0.32028	18.92	0.97628642511042008	0.35006	0.03771	0.09087	N	AEFDBI	0.076210	0.15325	N	-0.154619093703237	0.35039	2.007581	-0.411335869221592	0.24664	1.351907	0.0010995341888054	0.08217	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.86	1.8	0.24069	1.670000	0.37118	.	.	0.665000	0.62972	0.010000	0.18352	0.001000	0.17328	0.098000	0.18187	0.7272:0.2728:0.0:0.0	5.910	0.18265	976	0.04745	Immunoglobulin subtype;Immunoglobulin subtype;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2499.98	37	chr19	54888106	.	A	C	2499.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.843;DP=904;ExcessHet=0.0000;FS=1.768;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=0.538;SOR=0.843	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1176	20	0	1	0
chr19	54939978	54939978	C	T	exonic	NLRP7	.	nonsynonymous SNV	NLRP7:NM_001127255:exon4:c.G841A:p.V281I	Hydatidiform mole, recurrent, 1, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	3359084	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.3	T	0.999	D	0.987	D	.	.	1.000	N	1.465	L	-1.18	T	-0.598	T	0.435	T	0.068	2.245	13.46	-1.77	-0.416	-1.779	5.031	0.249	0.0432709508896	.	.	3.297e-05	0	0	0	0	4.499e-05	0	6.056e-05	2.59e-05	4	154602	rs777452729	1.642e-05	1.642e-05	1.089e-05	2.2e-05	0.0003	1.111e-05	9.33e-06	6.092e-05	2.521e-05	0	0	0	2.519e-05	0	0.0003	1.349e-05	1.656e-05	5.797e-05	2.629e-05	2.627e-05	2.57e-05	2.69e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.413e-05	0	0	0	0	0	0	4.41e-05	0	0	0.046	0.40573	D	0.013	0.63109	D	0.999	0.77913	D	0.987	0.77487	D	.	.	.	.	1	0.08975	N	2.09	0.57893	M	-1.18	0.78314	T	-0.33	0.13226	N	0.039	0.03175	-0.5976	0.64915	T	0.435	0.77529	T	9	0.2350061	0.40552	T	0.043271	0.60900	D	0.249	0.55752	.	.	0.243398259712	0.23965	0.09100765771421815	0.09033	0.492373565229	0.47883	0.300501644611	0.10475	T	0.043472	0.26512	T	-0.264434	0.12385	T	-0.509961	0.21319	T	0.106109854981384	0.13017	T	.	.	.	0.058581635	0.11802	0.045643587	0.06186	0.058581635	0.11801	0.045643587	0.06186	-5.341	0.40347	T	.	.	0.098	0.17995	B	.;.;.;.;.	.;.;.;.;.	0.867749	0.12404	8.940	0.99525732802700628	0.69530	0.01128	0.04105	N	AEFDBI	0.045700	0.07504	N	-0.590310763946279	0.19237	1.005285	-0.900872471822082	0.12074	0.6189486	0.00555459171909539	0.10975	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	1.76	-1.77	0.07551	-1.612000	0.02163	.	.	0.445000	0.21165	0.000000	0.06391	0.000000	0.08366	0.082000	0.17360	0.0:0.4442:0.0:0.5558	5.031	0.13752	912	0.21483	NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase;.;NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2762.98	144	chr19	54939978	.	C	T	2762.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=1991;ExcessHet=0.0000;FS=1.794;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.62;ReadPosRankSum=0.741;SOR=0.547	GT:AD:DP:GQ:PL	0/0:163,0:163:99:0,120,1800	20	0	1	0
chr19	54983043	54983043	A	G	exonic	NLRP2	.	nonsynonymous SNV	NLRP2:NM_001174082:exon5:c.A1279G:p.T427A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.001	B	0.222	N	1.000	N	-1.665	N	-0.7	T	-0.997	T	0.086	T	0.054	-1.651	0.012	-3.8	-0.834	0.047	3.143	0.052	0.0122421523417	.	.	9.307e-06	0	0	0	0	0	0	6.231e-05	.	.	.	rs767423134	1.371e-06	1.368e-06	0	2.756e-06	1.161e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.999e-07	0	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.835	0.02847	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.04355	B	0.221626	0.03458	N	1.858690	1	0.08975	N	-1.75	0.00322	N	-0.76	0.73845	T	0.56	0.02680	N	0.022	0.00372	-0.9974	0.30646	T	0.086	0.33326	T	10	0.07065436	0.10307	T	0.012242	0.30635	T	0.052	0.14661	0.494	0.58206	0.384584525793	0.38071	0.08738513201450707	0.08671	0.0444259073386	0.04792	0.491926670074	0.37705	T	0.006126	0.05569	T	-0.366191	0.03792	T	-0.663155	0.08055	T	0.0189809431935228	0.00607	T	.	.	.	0.022705633	0.00953	0.021025894	0.00169	0.022705633	0.00953	0.021025894	0.00169	-1.442	0.01649	T	.	.	0.066	0.02285	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.758342	0.01191	0.058	0.15255098551197316	0.00366	0.00364	0.01860	N	AEFDBI	0.022646	0.01158	N	-1.92782626551371	0.00301	0.01291103	-1.93407639591379	0.00419	0.01851287	6.73308934708074E-5	0.04366	0.615465	0.37627	0	0.633656	0.55848	0	0.563428	0.18855	0	0.567892	0.33627	0	.	.	1.9	-3.8	0.04025	-0.928000	0.04088	.	.	-1.055000	0.01629	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2476:0.0:0.4081:0.3443	3.143	0.06075	895	0.25842	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2017.98	40	chr19	54983043	.	A	G	2017.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.437e+00;DP=1999;ExcessHet=0.0000;FS=1.769;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.20;MQRankSum=0.318;QD=10.24;ReadPosRankSum=-1.367e+00;SOR=0.855	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1201	20	0	1	0
chr19	54983154	54983154	G	A	exonic	NLRP2	.	nonsynonymous SNV	NLRP2:NM_001174082:exon5:c.G1390A:p.G464R	.	.	0	1512	10	0	0	10	0.00329598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.007	B	0.009	B	0.144	N	1.000	N	-1.525	N	-0.68	T	-0.958	T	0.102	T	0.132	-1.997	0.007	-0.647	-0.181	-0.113	4.584	0.075	0.00799687025029	.	.	8.415e-05	0	0	0	0	0	0	0.0006	6.47e-05	10	154602	rs763292353	6.362e-05	6.362e-05	4.22e-05	8.526e-05	0.0008	5.295e-05	4.911e-05	0.0007	0.0006	0	0	0	0	0	0	1.529e-05	9.936e-05	0.0008	3.295e-05	3.944e-05	3.864e-05	2.699e-05	0.0006	1.264e-05	8e-06	0.0002	9.018e-05	0	0	0	0	0	0	0	1.471e-05	0.0005	0.0006	0.828	0.03085	T	1.0	0.01155	T	0.004	0.13644	B	0.004	0.14300	B	0.143755	0.02906	N	2.038200	1	0.08975	N	-0.77	0.01674	N	-0.74	0.73523	T	0.28	0.04233	N	0.103	0.09207	-0.9583	0.39497	T	0.102	0.37644	T	10	0.034043938	0.01599	T	0.007997	0.21213	T	0.075	0.21907	0.645	0.78224	0.377097596864	0.37317	0.2596106878981499	0.25875	0.0507363999243	0.05571	0.265839934349	0.05606	T	0.006125	0.05559	T	-0.448486	0.01153	T	-0.51091	0.21221	T	0.00660901908416001	0.00074	T	.	.	.	0.035241693	0.04110	0.040200043	0.04289	0.035241693	0.04110	0.040200043	0.04289	-1.649	0.02099	T	.	.	0.095	0.21466	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.096339	0.03663	0.736	0.13865412546281899	0.00287	0.00314	0.01657	N	AEFDBI	0.048887	0.08390	N	-1.63767121474068	0.01088	0.04722539	-1.62435684516255	0.01514	0.06854422	9.7624206563711E-5	0.04910	0.706298	0.61202	0	0.709663	0.81188	0	0.590023	0.30420	0	0.567892	0.33627	0	.	.	1.9	-0.647	0.10892	0.148000	0.16042	.	.	-0.341000	0.05685	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.5258:0.0:0.4742:0.0	4.584	0.11668	895	0.25842	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2319.98	40	chr19	54983154	.	G	A	2319.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.273;DP=2080;ExcessHet=0.0000;FS=4.417;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.81;MQRankSum=-9.160e-01;QD=9.71;ReadPosRankSum=-7.700e-01;SOR=0.482	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1201	20	0	1	0
chr19	54983434	54983434	C	T	exonic	NLRP2	.	nonsynonymous SNV	NLRP2:NM_001174082:exon5:c.C1670T:p.P557L	.	.	1	1509	12	0	0	12	0.0039604	.	.	3213726	NLRP2-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.38	T	0.025	B	0.005	B	0.006	N	1.000	N	0.755	N	-0.68	T	-0.991	T	0.209	T	0.172	-2.533	0.003	-3.32	-1.175	-3.127	4.392	0.047	.	0.0007	0.00299521	0.0021	0.0003	0.0004	0	0	0.0008	0.0011	0.0119	0.0019017	294	154602	rs149897717	0.0014	0.0014	0.0012	0.0017	0.0109	0.0014	0.0014	0.0104	0.0101	0.0002	0.0003	0.0007	2.519e-05	0	0.0028	0.0009	0.0014	0.0109	0.0008	0.0008	0.0007	0.0009	0.0100	0.0007	0.0006	0.0077	0.0069	0.0002	0	0.0004	0.0003	0	0	0.0034	0.0008	0.0009	0.0100	1.0	0.00964	T	0.33	0.18675	T	0.015	0.19245	B	0.002	0.11217	B	0.005687	0.01090	N	3.947260	1	0.08975	N	0.61	0.15665	N	-0.8	0.73845	T	0.66	0.02638	N	0.12	0.11197	-0.9913	0.32270	T	0.209	0.56906	T	10	0.0066336095	0.00150	T	.	.	.	0.047	0.12962	.	.	0.523650220922	0.52011	0.09322517985177575	0.09254	0.0456806916263	0.04958	0.233090355992	0.02204	T	0.021155	0.16527	T	-0.506753	0.00524	T	-0.491297	0.23255	T	0.000592152556546238	0.00005	T	.	.	.	0.019879818	0.00529	0.02972352	0.01343	0.019879818	0.00529	0.02972352	0.01343	-4.284	0.28302	T	.	.	0.095	0.16670	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-1.368701	0.00383	0.007	0.32901926915320839	0.01931	0.01018	0.03833	N	AEFDGBI	0.058314	0.10932	N	-1.73101622409608	0.00737	0.03184456	-1.84456676417532	0.00627	0.02786181	0.00494558523825066	0.10771	0.706298	0.61202	0	0.709663	0.81188	0	0.576033	0.28219	0	0.655142	0.61905	0	.	.	1.79	-3.32	0.04663	-1.623000	0.02143	.	.	-1.102000	0.01507	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.482:0.2189:0.2992	4.392	0.10775	895	0.25842	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3228.98	40	chr19	54983434	.	C	T	3228.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.336;DP=1623;ExcessHet=0.0000;FS=4.323;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=-6.270e-01;SOR=0.617	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1201	20	0	1	0
chr19	54994390	54994390	T	A	exonic	NLRP2	.	nonsynonymous SNV	NLRP2:NM_001174082:exon10:c.T2764A:p.F922I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.002	B	0.011	B	.	.	1.000	N	0.48	N	0.68	T	-1.055	T	0.055	T	0.215	-2.031	0.006	-4.94	-1.516	-0.759	1.613	0.042	0.00192132833228	.	.	8.237e-06	0	8.637e-05	0	0	0	0	0	1.29e-05	2	154602	rs773633093	1.095e-05	1.094e-05	8.17e-06	1.375e-05	0.0006	6.48e-06	5.25e-06	0.0001	8e-05	0	0.0001	0	0	0	0.0006	1.799e-06	8.283e-05	0	6.572e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.15521	B	.	.	.	.	1	0.08975	N	0.715	0.18665	N	0.68	0.51952	T	-0.83	0.24244	N	0.337	0.37820	-1.0547	0.13119	T	0.055	0.23375	T	9	0.087572604	0.14997	T	0.001921	0.03404	T	0.042	0.11227	0.48	0.55983	0.162503812791	0.15892	0.20520044938741344	0.20437	0.0576898165792	0.06392	0.300746738911	0.10512	T	0.005609	0.05061	T	-0.411604	0.01939	T	-0.603316	0.12534	T	0.0167957193329741	0.00434	T	.	.	.	0.035083994	0.04062	0.03221268	0.01923	0.035083994	0.04062	0.03221268	0.01923	-2.711	0.07447	T	.	.	0.069	0.09239	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.934302	0.00870	0.031	0.25213567409848114	0.01152	0.01061	0.03940	N	AEFBI	0.049868	0.08659	N	-2.03389084962088	0.00179	0.007656379	-2.11976905714678	0.00169	0.007419979	7.91770819564141E-4	0.07826	0.706298	0.61202	0	0.709663	0.81188	0	0.577349	0.28860	0	0.655142	0.61905	0	.	.	2.47	-4.94	0.02830	-1.827000	0.01798	.	.	-1.970000	0.00470	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1468:0.114:0.3068:0.4325	1.613	0.02535	952	0.10565	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1178.98	33	chr19	54994390	.	T	A	1178.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.525e+00;DP=805;ExcessHet=0.0000;FS=0.736;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=-7.000e-03;SOR=0.841	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1254	20	0	1	0
chr19	55045206	55045206	G	C	exonic	RDH13	.	nonsynonymous SNV	RDH13:NM_001145971:exon7:c.C864G:p.F288L	.	.	423	1073	26	0	0	26	0.0119705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.835	P	0.19	B	0.000	D	0.782	D	1.505	L	-3.55	D	-0.027	T	0.557	D	0.631	2.288	13.61	-4.24	-0.555	-0.089	11.974	0.587	.	0.0068	0.00379393	0.0083	0.0008	0.0042	0	0.0070	0.0106	0.0079	0.0110	0.0079559	1230	154602	rs56125820	0.0093	0.0093	0.0092	0.0093	0.0144	0.0092	0.0091	0.0119	0.0110	0.0015	0.0047	0.0081	5.038e-05	0.0073	0.0144	0.0100	0.0085	0.0116	0.0068	0.0068	0.0067	0.0070	0.0122	0.0065	0.0064	0.0097	0.0090	0.0016	0	0.0069	0.0078	0	0.0090	0.0238	0.0098	0.0066	0.0122	0.011	0.57480	D	0.025	0.64786	D	0.835	0.46254	P	0.19	0.36341	B	0.000009	0.62929	D	0.112974	0.782476	0.34284	D	0.93	0.23535	L	-3.55	0.94834	D	-5.19	0.83625	D	0.444	0.48227	-0.0272	0.81690	T	0.557	0.83836	D	10	0.006888509	0.00156	T	.	.	.	0.587	0.83471	0.699	0.83592	0.736989248879	0.73463	0.7326798601072219	0.73212	0.194085872631	0.21745	0.735047757626	0.72244	T	0.171346	0.51944	T	-0.165664	0.25891	T	-0.000353042	0.70313	D	0.0759697476757848	0.09464	T	.	.	.	0.4629253	0.64853	0.45011628	0.67997	0.4629253	0.64854	0.45011628	0.67998	-8.604	0.71176	D	.	.	0.991	0.93792	P	.;.;.	.;.;.	1.844192	0.23430	16.01	0.98331568901600575	0.40348	0.62815	0.31896	D	AEFDGBCI	0.220312	0.34508	N	-0.711334249114612	0.15702	0.7936669	-0.815680504773558	0.14116	0.7359038	0.413996110449008	0.20236	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.61	-4.24	0.03519	-0.054000	0.11783	.	.	-0.208000	0.08445	0.041000	0.21027	0.000000	0.08366	0.871000	0.41478	0.8181:0.0:0.1819:0.0	11.974	0.52373	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1349.98	33	chr19	55045206	.	G	C	1349.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.16;DP=806;ExcessHet=0.0000;FS=3.684;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=-3.820e-01;SOR=0.749	GT:AD:DP:GQ:PL	0/1:49,53:102:99:1364,0,1054	20	0	1	0
chr19	55048715	55048715	C	T	exonic	RDH13	.	nonsynonymous SNV	RDH13:NM_001145971:exon4:c.G389A:p.C130Y	.	.	.	.	.	.	.	.	.	.	.	757251	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.992	D	0.000	D	1.000	D	0	N	-2.22	D	0.376	D	0.599	D	0.911	4.299	22.5	5.18	2.598	4.348	16.608	0.649	0.115121233072	.	0.000798722	0.0007	0.0001	8.678e-05	0	0	0	0	0.0051	0.0005886	91	154602	rs539354138	0.0003	0.0003	0.0002	0.0004	0.0050	0.0003	0.0003	0.0046	0.0044	0	0	0	0	0	0	8.993e-07	0.0003	0.0050	0.0002	0.0002	9.011e-05	0.0003	0.0054	0.0001	0.0001	0.0038	0.0032	0	0	0	0	0	0	0	0	0	0.0054	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	-0.105	0.04674	N	-2.22	0.87038	D	-10.63	0.99124	D	0.67	0.67822	0.376	0.88743	D	0.599	0.85727	D	10	0.015749037	0.00331	T	0.115121	0.79420	D	0.649	0.86736	0.545	0.65873	0.859959944548	0.85860	0.7218706171100752	0.72131	0.509093297379	0.49051	0.714072108269	0.69184	T	0.470646	0.80368	T	0.0604829	0.59674	T	0.314644	0.88862	D	0.43661031126976	0.30304	T	.	.	.	0.91164726	0.92449	0.8509525	0.91568	0.91164726	0.92450	0.8509525	0.91568	-12.112	0.95924	D	.	.	0.919	0.84137	P	.;.;.	.;.;.	4.866410	0.79681	27.2	0.99717162634515277	0.81773	0.91328	0.53312	D	AEFDGBCI	0.723067	0.67280	D	0.416794518903179	0.62345	4.448951	0.456512613299284	0.65137	4.785819	0.99999997802557	0.74766	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.18	5.18	0.71140	4.759000	0.61924	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.823000	0.38780	0.0:1.0:0.0:0.0	16.608	0.84689	982	0.03397	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2234.98	35	chr19	55048715	.	C	T	2234.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.147e+00;DP=982;ExcessHet=0.0000;FS=1.128;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=-2.270e-01;SOR=0.604	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,105,1575	20	0	1	0
chr19	55056680	55056680	G	A	exonic	RDH13	.	stopgain	RDH13:NM_001145971:exon3:c.C313T:p.R105X	.	.	429	1085	3	0	5	8	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.003	N	1.000	A	.	.	.	.	.	.	.	.	.	7.135	38	3.37	0.998	3.121	10.085	.	.	.	.	0.0001	0	0	0.0010	0.0002	6.001e-05	0	0.0002	0.0001229	19	154602	rs200525958	0.0001	0.0001	0.0001	0.0001	0.0016	0.0001	0.0001	0.0008	0.0007	0	6.708e-05	0	0.0010	3.744e-05	0.0016	9.263e-05	8.279e-05	0.0003	0.0001	0.0001	8.999e-05	0.0001	0.0010	7.101e-05	5.755e-05	0.0004	0.0002	4.834e-05	0	0	0	0.0010	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.003361	0.35069	N	0.203527	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.274	0.32370	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201438	0.74027	D	0.486496	0.94335	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.;.	.;High;.;.	10.542524	0.99782	48	0.99757598717960083	0.84772	0.83182	0.42321	D	AEFDBCI	0.077076	0.15521	N	0.335732055158041	0.57991	3.968929	0.131906277409427	0.46188	2.869076	0.598290683848579	0.21704	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.42	3.37	0.37692	3.546000	0.53409	.	.	-0.138000	0.12486	1.000000	0.71638	1.000000	0.68203	0.235000	0.22869	0.0:0.0:0.6362:0.3638	10.085	0.41583	982	0.03397	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1589.98	33	chr19	55056680	.	G	A	1589.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.887;DP=1039;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=-1.204e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1171	20	0	1	0
chr19	55117296	55117296	T	C	exonic	PPP1R12C	.	nonsynonymous SNV	PPP1R12C:NM_001271618:exon1:c.A248G:p.D83G	.	.	424	1097	0	1	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.08	B	0.123	B	0.144	U	1.000	D	1.65	L	-0.3	T	-0.677	T	0.206	T	0.344	2.732	15.10	2.07	1.227	0.614	6.145	0.049	0.486215710169	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1030909322	0.0005	0.0005	0.0005	0.0005	0.0006	0.0005	0.0005	0.0005	0.0005	4.542e-05	0.0001	0	0	0.0007	0	0.0006	0.0003	0	0.0006	0.0006	0.0007	0.0005	0.0012	0.0005	0.0005	0.0010	0.0009	4.949e-05	0	0	0.0003	0	0.0005	0	0.0012	0	0	0.024	0.47745	D	0.059	0.45961	T	0.08	0.24543	B	0.123	0.32463	B	0.144286	0.18183	U	0.374428	0.634599	0.32820	D	0.615	0.15706	N	-0.3	0.67874	T	-1.58	0.38151	N	0.178	0.19190	-0.6770	0.61511	T	0.206	0.56471	T	10	0.15235806	0.28780	T	0.486216	0.94923	D	0.049	0.13647	.	.	0.57371630461	0.57039	0.3067000379226747	0.30583	0.440978841231	0.44093	0.894014835358	0.95750	D	0.021896	0.16976	T	-0.39564	0.02473	T	-0.343507	0.39946	T	0.105951467145057	0.13000	T	0.618838	0.23746	T	0.16016439	0.35938	0.18701905	0.41909	0.16016439	0.35937	0.18701905	0.41908	-2.16	0.03851	T	.	.	0.199	0.42244	B	.	.	3.379170	0.46730	22.3	0.99250480525136475	0.56858	0.14665	0.18522	N	AEFDBHCI	0.040906	0.06148	N	-0.642772247007584	0.17672	0.9113006	-0.68034323455313	0.17452	0.9280738	0.999999488392896	0.74766	0.766844	0.99359	0	0.484254	0.07192	0	0.851219	0.99655	0	0.492483	0.08430	1	.	.	2.07	2.07	0.26004	0.413000	0.20869	3.848000	0.40075	0.419000	0.20781	0.000000	0.06391	1.000000	0.68203	0.054000	0.15518	0.0:0.0:0.0:1.0	6.145	0.19497	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	303.99	17	chr19	55117296	.	T	C	303.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.520e+00;DP=350;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0253;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.48;ReadPosRankSum=0.633;SOR=0.804	GT:AD:DP:GQ:PL	0/0:13,0:13:27:0,27,405	20	0	1	0
chr19	55137104	55137104	G	A	exonic	TNNT1	.	nonsynonymous SNV	TNNT1:NM_001126133:exon10:c.C577T:p.R193W	Nemaline myopathy 5, Amish type, Autosomal recessive	YES	.	.	.	.	.	.	.	0.1207	0.234	2129545	Nemaline_myopathy_5	MONDO:MONDO:0011539,MedGen:C1854380,OMIM:605355,Orphanet:98902	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.987	D	.	.	1.000	D	2.955	M	-3.98	D	0.963	D	0.926	D	0.63	3.231	16.83	0.808	0.603	3.404	8.611	0.862	0.848506271944	7.7e-05	.	4.219e-05	9.946e-05	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs139208059	2.444e-05	2.405e-05	1.283e-05	3.499e-05	0.0002	1.446e-05	1.17e-05	9.313e-05	7.206e-05	0.0001	0	0	0	3.098e-05	0	4.504e-06	0	0.0002	1.784e-05	1.593e-05	1.7e-05	1.878e-05	6.848e-05	2.96e-06	1.11e-06	1.134e-05	4.24e-06	6.848e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.987	0.77487	D	.	.	.	.	0.999992	0.58761	D	2.765	0.80766	M	-3.98	0.96277	D	-6.0	0.89534	D	0.736	0.75927	0.963	0.96595	D	0.926	0.97554	D	9	0.8083526	0.80899	D	0.848506	0.98831	D	0.862	0.95802	.	.	0.99545947487	0.99541	0.3014495418418147	0.30057	1.26042448871	0.82010	0.673257470131	0.63302	T	0.890078	0.97760	D	0.281714	0.81461	D	0.166886	0.81222	D	0.916008710861206	0.57326	D	0.994026	0.98076	D	0.09753213	0.22993	0.14903326	0.35204	0.09753213	0.22992	0.14903326	0.35203	-11.633	0.83053	D	.	.	0.368	0.57732	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.601165	0.72877	25.9	0.99893798802671085	0.96742	0.90600	0.51911	D	AEFGBI	0.805926	0.73038	D	0.419124503557811	0.62475	4.463922	0.2578052639972	0.53096	3.48021	0.0391532153537446	0.14381	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	3.62	0.808	0.17861	3.819000	0.55386	0.759000	0.21299	0.604000	0.46097	1.000000	0.71638	0.990000	0.31317	0.595000	0.31264	0.0:0.0:0.375:0.625	8.611	0.32965	988	0.01987	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2597.98	40	chr19	55137104	.	G	A	2597.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.960e-01;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.83;ReadPosRankSum=0.768;SOR=0.734	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1171	20	0	1	0
chr19	55137107	55137107	-	CACTA	exonic	TNNT1	.	stopgain	TNNT1:NM_001126133:exon10:c.573_574insTAGTG:p.L192*	Nemaline myopathy 5, Amish type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	792815	Nemaline_myopathy_5|not_provided	MONDO:MONDO:0011539,MedGen:C1854380,OMIM:605355,Orphanet:98902|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2642.94	40	chr19	55137107	.	G	GCACTA	2642.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.472e+00;DP=817;ExcessHet=0.0000;FS=0.692;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.21;ReadPosRankSum=0.268;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1171	20	0	1	0
chr19	55147136	55147136	C	T	exonic	TNNT1	.	nonsynonymous SNV	TNNT1:NM_001126132:exon2:c.G22A:p.E8K	Nemaline myopathy 5, Amish type, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.225	B	0.027	B	0.020	U	1.000	N	1.79	L	-5.01	D	1.095	D	0.937	D	0.28	2.313	13.69	2.35	1.635	3.461	8.343	0.393	0.939601450512	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1365700594	1.368e-06	1.368e-06	0	2.751e-06	2.322e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.322e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.22486	T	0.192	0.41742	T	0.149	0.27956	B	0.025	0.20508	B	0.020116	0.27110	U	0.214283	0.777644	0.81001	D	2.045	0.56016	M	-5.01	0.99655	D	-1.27	0.38924	N	0.225	0.30004	1.095	0.99426	D	0.937	0.97917	D	10	0.32627964	0.49927	T	0.939601	0.99571	D	0.393	0.70844	0.143	0.04650	0.964754289087	0.96437	0.5039820874095481	0.50320	0.640471696717	0.57678	0.856557011604	0.90600	D	0.339901	0.70899	T	0.0366361	0.56602	T	-0.0845213	0.64572	T	0.217163278813298	0.21321	T	0.780822	0.41560	T	0.19600143	0.41410	0.2482322	0.50369	0.19600143	0.41410	0.2482322	0.50368	-9.046	0.67993	D	.	.	0.216	0.55978	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.924831	0.81138	27.5	0.99027486525665864	0.50721	0.78143	0.38510	D	ALL	0.315432	0.42000	N	-0.170345081912801	0.34374	1.961159	-0.112099137607638	0.34901	2.012922	0.999999999999807	0.74766	0.59774	0.34471	0	0.547309	0.14657	0	0.52208	0.10781	0	0.63947	0.58350	0	.	.	2.35	2.35	0.28166	1.840000	0.38871	3.479000	0.38635	0.563000	0.28513	0.977000	0.34929	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	8.343	0.31420	988	0.01987	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1662.98	38	chr19	55147136	.	C	T	1662.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.339;DP=883;ExcessHet=0.0000;FS=1.382;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.69;ReadPosRankSum=0.776;SOR=0.836	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1197	20	0	1	0
chr19	55165795	55165795	A	C	exonic	DNAAF3	.	nonsynonymous SNV	DNAAF3:NM_001256716:exon3:c.T53G:p.I18S,	Ciliary dyskinesia, primary, 2, Autosomal recessive	.	0	1494	26	2	0	30	0.00994036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.159	B	0.018	B	.	.	1.000	N	.	.	2.3	T	-0.954	T	0.016	T	0.074	1.623	11.38	0.442	0.110	-0.616	6.101	0.014	.	.	0.000199681	0.0024	0	0	0	0	0.0033	0.0104	0.0023	0.0006404	99	154602	rs537635826	0.0006	0.0006	0.0005	0.0007	0.0044	0.0006	0.0005	0.0030	0.0026	6.182e-05	0.0005	0.0020	0	2.046e-05	0.0044	0.0005	0.0012	0.0022	0.0005	0.0005	0.0005	0.0005	0.0010	0.0004	0.0004	0.0007	0.0005	4.824e-05	0	0.0010	0.0020	0	0	0.0068	0.0007	0.0005	0.0008	0.011	0.55530	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.3	0.16953	T	0.4	0.03463	N	0.202	0.22357	-0.9537	0.40327	T	0.016	0.06425	T	8	0.00550279	0.00121	T	.	.	.	0.014	0.01968	.	.	0.0716867268079	0.06686	.	.	.	.	.	.	.	.	.	.	-0.674487	0.00052	T	-0.748106	0.03560	T	0.012129488222065	0.00193	T	0.361964	0.08365	T	.	.	.	.	.	.	.	.	-1.348	0.01480	T	.	.	0.134	0.29060	B	.	.	0.599689	0.09679	6.452	0.95362320973247905	0.26763	0.06154	0.12135	N	AEFGBCI	0.088806	0.18002	N	-1.02745366790125	0.08037	0.3754451	-1.10485010075216	0.07607	0.3706807	0.999224403668781	0.38808	0.516011	0.20929	0	0.563428	0.19063	0	0.491513	0.07944	0	0.586402	0.36253	0	.	.	2.4	0.442	0.15794	-0.566000	0.06013	-1.184000	0.06088	0.684000	0.82519	0.000000	0.06391	0.000000	0.08366	0.141000	0.19983	0.6684:0.3316:0.0:0.0	6.101	0.19268	988	0.01987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1113.98	81	chr19	55165795	.	A	C	1113.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.624e+00;DP=788;ExcessHet=0.0000;FS=1.867;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.75;ReadPosRankSum=0.118;SOR=0.929	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1143	20	0	1	0
chr19	55186344	55186344	G	A	exonic	PTPRH	.	stopgain	PTPRH:NM_001161440:exon14:c.C2125T:p.Q709X	.	.	425	1086	11	0	0	11	0.00503894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.367	N	1.000	A	.	.	.	.	.	.	.	.	.	5.636	36	1.53	0.199	0.372	12.232	.	.	0.0025	0.00179712	0.0027	0.0004	0.0041	0.0002	0.0005	0.0039	0.0033	0.0004	0.0027619	427	154602	rs147881000	0.0028	0.0028	0.0028	0.0028	0.0083	0.0027	0.0027	0.0065	0.0058	0.0004	0.0047	0.0047	0	0.0007	0.0083	0.0031	0.0030	0.0005	0.0024	0.0024	0.0026	0.0021	0.0043	0.0022	0.0021	0.0035	0.0032	0.0007	0.0077	0.0043	0.0049	0	0.0003	0.0034	0.0034	0.0038	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	0.367308	0.04340	N	1.587010	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.339	0.39254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0354934	0.56452	T	0.278611	0.87050	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	9.322015	0.98772	40	0.98467525123518973	0.41814	0.13782	0.18049	N	AEFDBHCI	0.067906	0.13372	N	0.0713427077347306	0.45130	2.774701	-0.239442465834879	0.30138	1.694264	0.97311736924423	0.29427	0.516011	0.20929	0	0.573888	0.26702	0	0.577349	0.28860	0	0.567892	0.33627	0	.	.	5.12	1.53	0.22224	1.036000	0.29837	2.303000	0.32029	0.672000	0.70159	0.001000	0.13787	0.996000	0.32793	0.474000	0.28430	0.0:0.0:0.4062:0.5938	12.232	0.53808	988	0.01987	PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1888.98	42	chr19	55186344	.	G	A	1888.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.345;DP=897;ExcessHet=0.0000;FS=0.646;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.20;ReadPosRankSum=0.106;SOR=0.594	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr19	55236643	55236643	C	T	exonic	PPP6R1	.	nonsynonymous SNV	PPP6R1:NM_014931:exon17:c.G1988A:p.R663Q,	.	.	430	1087	5	0	0	5	0.00229463	0.9800	0.776	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	D	0.953	D	0.636	N	0.697	D	0.895	L	0.81	T	-0.920	T	0.111	T	0.106	1.900	12.31	3.65	1.335	2.732	10.417	0.092	.	0.0040	0.00339457	0.0140	0.0020	0.0041	0	0.0439	0.0177	0.0082	0.0062	0.0051487	796	154602	rs138501306	0.0064	0.0064	0.0065	0.0062	0.0069	0.0063	0.0062	0.0068	0.0067	0.0007	0.0016	0.0019	0	0.0170	0.0021	0.0069	0.0048	0.0025	0.0053	0.0053	0.0049	0.0058	0.0072	0.0050	0.0049	0.0066	0.0064	0.0009	0	0.0018	0.0023	0.0002	0.0217	0	0.0072	0.0052	0.0025	0.086	0.32610	T	0.056	0.46632	T	0.997	0.70673	D	0.953	0.69275	D	0.635901	0.05840	N	1.226840	0.696699	0.33380	D	2.525	0.73725	M	0.81	0.48460	T	-0.86	0.23372	N	0.371	0.54059	-0.9196	0.45608	T	0.111	0.39888	T	9	0.007813603	0.00177	T	.	.	.	0.092	0.26621	.	.	0.34936206512	0.34543	0.22641693134365387	0.22556	0.377979842686	0.39223	0.643776655197	0.59101	T	0.103855	0.41290	T	-0.53551	0.00356	T	-0.530969	0.19191	T	0.0220971618079203	0.00919	T	0.743426	0.36288	T	0.03804837	0.04996	0.047305405	0.06783	0.03804837	0.04996	0.047305405	0.06783	-4.355	0.28941	T	.	.	0.095	0.14979	B	.;.	.;.	5.603932	0.92480	32	0.99473342693213496	0.66472	0.95501	0.64972	D	AEFBI	0.560355	0.56880	D	-0.130997614536097	0.36047	2.078419	-0.0898217276448571	0.35810	2.076218	0.0113857638468825	0.12176	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.69	3.65	0.40985	2.767000	0.47321	3.699000	0.39520	-0.202000	0.08738	1.000000	0.71638	1.000000	0.68203	0.323000	0.25040	0.0:0.9065:0.0:0.0935	10.417	0.43515	988	0.01987	.;.	.	.	.	.	rs138501306	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	782.98	33	chr19	55236643	.	C	T	782.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.000e-03;DP=767;ExcessHet=0.0000;FS=3.996;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.27;ReadPosRankSum=0.319;SOR=0.290	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr19	55312021	55312021	C	G	exonic	BRSK1	.	nonsynonymous SNV	BRSK1:NM_032430:exon19:c.C2290G:p.P764A,	.	.	436	1080	6	0	0	6	0.00277008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.0	B	0.001	B	0.302	N	1.000	N	0	N	2.12	T	-1.033	T	0.107	T	0.288	0.718	7.822	2.77	0.593	0.785	5.018	0.054	.	0.0016	0.00139776	0.0087	0.0020	0.0050	0	0.0349	0.0159	0	0.0022	0.0021927	339	154602	rs55796422	0.0040	0.0038	0.0040	0.0040	0.0042	0.0039	0.0038	0.0041	0.0040	0.0006	0.0016	0.0027	0	0.0124	0.0030	0.0042	0.0030	0.0006	0.0041	0.0041	0.0042	0.0041	0.0058	0.0039	0.0038	0.0054	0.0052	0.0006	0.0186	0.0020	0.0020	0	0.0133	0	0.0058	0.0043	0.0004	0.431	0.09514	T	0.459	0.12632	T	0.0	0.02946	B	0.001	0.04355	B	0.301641	0.14588	N	0.642454	0.995987	0.23147	N	0	0.06538	N	-0.4	0.69287	T	-0.6	0.22944	N	0.163	0.17140	-1.0330	0.19490	T	0.107	0.38857	T	10	0.0058009923	0.00129	T	.	.	.	0.054	0.15330	.	.	0.567312283712	0.56396	0.06713193391897504	0.06651	0.850350720984	0.68505	0.66813325882	0.62571	T	0.063974	0.32315	T	-0.460073	0.00982	T	-0.424245	0.30588	T	0.000272591460729705	0.00002	T	0.646135	0.25753	T	0.017005345	0.00239	0.021391267	0.00192	0.017005345	0.00239	0.021391267	0.00192	-3.621	0.18161	T	.	.	0.051	0.00248	B	.;.;.	.;.;.	1.685801	0.21482	15.22	0.79762642768768188	0.12889	0.34911	0.25178	N	AEFDBI	0.123063	0.23849	N	-0.600485232704677	0.18930	0.9867774	-0.425875979452659	0.24241	1.32635	0.00128282869070115	0.08410	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.567892	0.33627	0	.	.	4.99	2.77	0.31614	0.802000	0.26730	2.817000	0.34941	0.587000	0.30956	0.801000	0.29734	0.997000	0.33255	0.949000	0.49496	0.0:0.5809:0.1687:0.2504	5.018	0.13687	988	0.01987	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	775.98	34	chr19	55312021	.	C	G	775.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.000e-01;DP=795;ExcessHet=0.0000;FS=1.812;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.35;ReadPosRankSum=-1.480e+00;SOR=0.984	GT:AD:DP:GQ:PL	0/0:36,0:36:96:0,96,1440	20	0	1	0
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	1402.14	99	chr19	55358524	.	C	*,T	1402.14	.	AC=39,1;AF=0.929,0.024;AN=42;DP=2198;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=39,1;MLEAF=0.929,0.024;MQ=60.00;QD=0.80;SOR=0.839	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,97,0:97:99:.:.:4319,298,0,4319,298,4319	0	18	2	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	1530.14	99	chr19	55358535	.	T	*,C	1530.14	.	AC=39,1;AF=0.929,0.024;AN=42;DP=2199;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=39,1;MLEAF=0.929,0.024;MQ=60.00;QD=0.88;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,97,0:97:99:.:.:4319,298,0,4319,298,4319	0	18	2	0
chr19	55358733	55358733	G	A	exonic	FAM71E2	.	nonsynonymous SNV	FAM71E2:NM_001145402:exon9:c.C2135T:p.S712L,	.	.	409	1112	1	0	0	1	0.000449438	.	.	3251343	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.29	T	0.0	B	0.0	B	.	.	1.000	N	0	N	2.98	T	-0.941	T	0.012	T	0.033	0.840	8.393	-5.81	-1.407	-0.352	8.800	0.007	0.0066955764549	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1456530912	2.862e-05	2.805e-05	2.682e-05	3.048e-05	3.34e-05	2.157e-05	1.899e-05	2.445e-05	2.17e-05	0	0	0	0	0	0	3.34e-05	3.453e-05	2.53e-05	3.285e-05	3.283e-05	5.138e-05	1.344e-05	4.409e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	2.412e-05	0	0	0	0	0	0	4.409e-05	0.0005	0	1.0	0.00964	T	0.435	0.13518	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.115	0.04602	N	2.98	0.09356	T	-0.18	0.09796	N	0.021	0.00339	-0.9411	0.42442	T	0.012	0.04747	T	9	0.021095276	0.00498	T	0.006696	0.17671	T	0.007	0.00512	.	.	0.0138822411134	0.00435	0.007520596027998496	0.00718	.	.	0.231614053249	0.02090	T	0.001159	0.00660	T	-0.460913	0.00970	T	-0.88436	0.00619	T	0.0374858414509292	0.03241	T	0.417958	0.11033	T	0.02120233	0.00711	0.043344103	0.05370	0.02120233	0.00710	0.043344103	0.05369	-3.276	0.13429	T	.	.	0.087	0.11269	B	.	.	-0.912300	0.00906	0.033	0.84054016894143413	0.15070	0.01094	0.04022	N	AEFGBI	0.060190	0.11422	N	-1.74994518293771	0.00680	0.02932219	-1.82054744807843	0.00696	0.03097456	0.00590163707132853	0.11075	0.516011	0.20929	0	0.610034	0.51514	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.61	-5.81	0.02148	-1.107000	0.03427	-3.064000	0.03093	-0.682000	0.04210	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1883:0.0:0.6673:0.1445	8.800	0.34064	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2041.98	100	chr19	55358733	.	G	A	2041.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=1992;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=0.738;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:100,0:100:99:.:.:0,120,1800	20	0	1	0
chr19	55359687	55359687	G	A	exonic	FAM71E2	.	nonsynonymous SNV	FAM71E2:NM_001145402:exon9:c.C1181T:p.P394L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.001	B	0.0	B	.	.	1.000	N	0	N	2.87	T	-0.963	T	0.012	T	0.056	-0.840	0.573	-5.13	-5.332	-1.798	2.850	0.020	0.00613095092871	.	0.000199681	0.0002	0	0	0	0	0	0	0.0004	2.59e-05	4	154602	rs557543646	2.358e-05	2.326e-05	1.833e-05	2.898e-05	0.0004	1.682e-05	1.48e-05	6.169e-05	2.55e-05	3.165e-05	0.0001	0	0	0	0.0004	1.854e-05	0	7.573e-05	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	7.29e-05	3.029e-05	0	0	0	0	0	0	0	0	0	0.0004	0.154	0.24277	T	0.118	0.36233	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.87	0.10386	T	-1.03	0.27052	N	0.051	0.02272	-0.9632	0.38567	T	0.012	0.04558	T	9	0.022868007	0.00582	T	0.006131	0.16052	T	0.020	0.03691	0.28	0.23483	0.0138822411134	0.00435	0.029738149563514667	0.02922	.	.	0.226120740175	0.01693	T	0.001209	0.00701	T	-0.622508	0.00106	T	-0.835774	0.01164	T	0.00850639468178168	0.00103	T	0.394461	0.09873	T	0.01983717	0.00524	0.0322565	0.01933	0.01983717	0.00523	0.0322565	0.01933	-3.553	0.17182	T	.	.	0.079	0.07224	B	.	.	-1.912235	0.00123	0.002	0.8249031070524202	0.14219	0.01733	0.05477	N	AEFDGBC	0.034052	0.04151	N	-2.28132974093295	0.00050	0.002152682	-2.38526277872453	0.00042	0.001864407	0.9999994339754	0.74766	0.517182	0.21443	0	0.626922	0.53725	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.56	-5.13	0.02665	-1.809000	0.01826	-5.451000	0.01713	-2.920000	0.00157	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.291:0.0868:0.4902:0.132	2.850	0.05213	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1115.98	79	chr19	55359687	.	G	A	1115.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=909;ExcessHet=0.0000;FS=0.849;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=-1.071e+00;SOR=0.551	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr19	55378033	55378033	A	G	exonic	TMEM190	.	nonsynonymous SNV	TMEM190:NM_139172:exon5:c.A364G:p.M122V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.002	B	0.002	B	0.737	N	1.000	N	0	N	.	.	-1.030	T	0.037	T	0.104	0.595	7.210	-1.72	-0.230	-1.853	2.774	0.023	0.00344449210613	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1319059304	3.423e-06	3.42e-06	2.724e-06	4.128e-06	0.0009	1e-06	7.3e-07	0.0003	0.0002	0	0	0	0	0	0.0009	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.059	0.45961	T	0.002	0.09854	B	0.002	0.06944	B	0.736779	0.09809	N	0.817361	1	0.08975	N	0	0.06538	N	.	.	.	-1.17	0.29933	N	0.096	0.07673	-1.0296	0.20583	T	0.037	0.16073	T	9	0.034504443	0.01661	T	0.003444	0.07755	T	0.023	0.04649	0.161	0.06507	0.0920862733494	0.08535	0.14879602737604533	0.14801	0.441629838228	0.44142	0.276694118977	0.07036	T	0.047748	0.27815	T	-0.408721	0.02027	T	-0.655748	0.08556	T	0.0235258825731104	0.01086	T	0.277372	0.04781	T	0.13809955	0.31952	0.103022754	0.24708	0.13809955	0.31952	0.103022754	0.24707	-2.105	0.03605	T	.	.	0.062	0.01252	B	.	.	-0.148480	0.03363	0.598	0.37640805533347094	0.02492	0.01759	0.05532	N	AEFDGBCI	0.024227	0.01466	N	-1.82218676276125	0.00493	0.02122421	-1.84828735829952	0.00617	0.02739902	0.999988788207661	0.51787	0.652421	0.48094	0	0.547309	0.14657	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	3.02	-1.72	0.07671	-1.597000	0.02192	-2.658000	0.03498	-4.666000	0.00023	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2056:0.4214:0.0:0.373	2.774	0.05015	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1105.98	37	chr19	55378033	.	A	G	1105.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.545e+00;DP=827;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=1.02;SOR=0.743	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1161	20	0	1	0
chr19	55388181	55388181	T	A	exonic	RPL28	.	nonsynonymous SNV	RPL28:NM_001136134:exon4:c.T457A:p.W153R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	.	.	1.000	P	.	.	.	.	-1.014	T	0.054	T	0.076	-1.407	0.022	-1.19	-0.849	-0.625	4.487	0.093	.	.	0.00439297	0.0022	0.0184	0.0011	0	0	3.612e-05	0.0029	0	0.0010802	167	154602	rs10411984	0.0004	0.0004	0.0004	0.0003	0.0128	0.0003	0.0003	0.0117	0.0113	0.0128	0.0008	0	0	0	0.0007	1.221e-05	0.0007	5.351e-05	0.0038	0.0038	0.0038	0.0038	0.0129	0.0036	0.0035	0.0120	0.0116	0.0129	0	0.0022	0	0	0	0	8.824e-05	0.0028	0	0.0	0.91255	D	0.182	0.29249	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	0.54	0.54911	T	-0.47	0.15178	N	0.154	0.15888	-1.0145	0.25497	T	0.054	0.22883	T	5	0.0033333302	0.00058	T	.	.	.	.	.	.	.	0.134007934775	0.12933	.	.	.	.	.	.	.	.	.	.	-0.590477	0.00167	T	-0.609279	0.12043	T	0.00309255959258532	0.00032	T	0.127787	0.01001	T	.	.	.	.	.	.	.	.	-2.252	0.04300	T	.	.	0.260	0.49441	B	.	.	0.474084	0.08434	5.193	0.40930967374429073	0.02920	0.05312	0.11161	N	AEFGBHCI	.	.	.	-1.30085572504742	0.03666	0.1641702	-1.43191911784098	0.02937	0.1361005	0.999999836526308	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.694767	0.63188	0	0.627883	0.49187	0	.	.	1.91	-1.19	0.09091	-0.342000	0.07848	0.605000	0.19970	-0.554000	0.04884	0.001000	0.13787	0.060000	0.22018	0.001000	0.02609	0.2472:0.0:0.5539:0.1989	4.487	0.11205	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	973.98	35	chr19	55388181	.	T	A	973.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.86;DP=835;ExcessHet=0.0000;FS=0.835;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=-2.320e-01;SOR=0.556	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr19	55442638	55442638	G	A	exonic	SHISA7	.	nonsynonymous SNV	SHISA7:NM_001145176:exon1:c.C226T:p.P76S,	.	.	411	1103	8	0	0	8	0.00361337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	B	0.245	B	.	.	0.527	D	0	N	.	.	-0.955	T	0.076	T	0.215	3.328	17.20	3.3	1.593	3.175	10.544	0.058	.	.	0.00199681	0.0046	0	0	0.0036	0	0.0002	0.0071	0.0084	0.000511	79	154602	rs562026468	0.0008	0.0008	0.0006	0.0011	0.0110	0.0008	0.0008	0.0104	0.0101	0	0.0001	0	0.0071	0.0009	0.0005	5.755e-05	0.0016	0.0110	0.0005	0.0005	0.0004	0.0006	0.0091	0.0004	0.0004	0.0070	0.0062	2.439e-05	0	0	0	0.0044	0	0	0.0001	0	0.0091	0.147	0.24955	T	0.061	0.45530	T	0.191	0.29411	B	0.245	0.38823	B	.	.	.	.	0.527486	0.31948	D	0.695	0.17993	N	.	.	.	-2.46	0.53736	N	0.279	0.31590	-0.9548	0.40131	T	0.076	0.30429	T	7	0.005387306	0.00118	T	.	.	.	0.058	0.16647	0.343	0.33626	0.132336055621	0.12781	0.31836276832275384	0.31749	.	.	0.867279529572	0.92177	D	0.030269	0.21497	T	-0.465757	0.00904	T	-0.433842	0.29499	T	0.0671139891509457	0.08240	T	0.518948	0.16858	T	0.12601453	0.29527	0.223598	0.47244	0.12601453	0.29527	0.223598	0.47243	-4.768	0.34216	T	.	.	0.148	0.32685	B	.	.	4.992041	0.82765	27.9	0.99803115742848358	0.88728	0.67425	0.33428	D	AEFDBHCI	0.128828	0.24675	N	-0.299429354536607	0.29171	1.615297	-0.173224278958124	0.32526	1.851315	0.999928305866092	0.46280	0.59774	0.34471	0	0.578056	0.33634	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.3	3.3	0.36912	4.290000	0.58812	7.305000	0.58104	0.481000	0.22134	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	10.544	0.44236	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	901.98	38	chr19	55442638	.	G	A	901.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.890e+00;DP=826;ExcessHet=0.0000;FS=0.888;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.00;ReadPosRankSum=2.00;SOR=0.534	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr19	55481917	55481917	C	G	exonic	ZNF628	.	nonsynonymous SNV	ZNF628:NM_033113:exon3:c.C724G:p.Q242E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.95	T	0.011	B	0.003	B	0.783	N	1.000	N	0.345	N	3.2	T	-0.956	T	0.011	T	0.088	-2.839	0	1.01	1.282	0.151	5.466	0.043	0.0286188479326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.515e-07	6.855e-07	1.481e-06	0	9.498e-07	0	0	.	.	0	0	0	0	0	0	9.498e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.858	0.03428	T	.	.	.	.	.	.	0.782614	0.06663	N	1.199260	1	0.08975	N	-0.035	0.05024	N	3.2	0.07236	T	.	.	.	0.093	0.07262	-0.9562	0.39879	T	0.011	0.04321	T	10	0.063369215	0.08245	T	0.028619	0.51266	D	0.043	0.11576	.	.	0.043077524339	0.03247	0.09234534845991499	0.09166	.	.	0.785524249077	0.79763	T	0.014435	0.12290	T	-0.368847	0.03652	T	-0.7676	0.02848	T	0.0490656781354599	0.05334	T	0.156884	0.01387	T	0.045974147	0.07617	0.037495505	0.03413	0.045974147	0.07617	0.037495505	0.03413	-3.517	0.16671	T	.	.	0.088	0.11749	B	.;.	.;.	-0.471074	0.01961	0.169	0.57804260389728446	0.05850	0.05971	0.11931	N	AEFDGBCI	0.058448	0.10966	N	-1.16221193836769	0.05581	0.2548322	-1.18170442170223	0.06215	0.2984753	0.999474757068612	0.39898	0.495158	0.18159	0	0.550933	0.16991	0	0.535252	0.11790	0	0.528226	0.09195	0	.	.	2.27	1.01	0.19044	0.327000	0.19408	-1.116000	0.06283	0.384000	0.20435	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.33:0.67:0.0:0.0	5.466	0.15938	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	322.98	23	chr19	55481917	.	C	G	322.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.830e-01;DP=859;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.23;ReadPosRankSum=-4.380e-01;SOR=0.656	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	20	0	1	0
chr19	55482427	55482427	G	A	exonic	ZNF628	.	nonsynonymous SNV	ZNF628:NM_033113:exon3:c.G1234A:p.A412T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.97	D	0.665	P	0.315	U	0.981	N	0.345	N	3.22	T	-1.035	T	0.022	T	0.327	1.955	12.49	3.4	1.937	1.080	10.578	0.073	.	.	0.000399361	0.0211	0	0.1667	0	0	0	0	0.0242	0.0003105	48	154602	rs563338899	0.0003	0.0003	0.0002	0.0004	0.0054	0.0002	0.0002	0.0049	0.0047	0	0	0	0	0	0	2.019e-06	0.0004	0.0054	0.0001	0.0001	7.753e-05	0.0002	0.0033	7.616e-05	6.313e-05	0.0021	0.0017	4.832e-05	0	0	0	0	0	0	0	0	0.0033	.	.	.	0.428	0.13792	T	.	.	.	.	.	.	0.314833	0.14370	U	0.558639	0.981282	0.25050	N	0.55	0.14455	N	3.23	0.06931	T	.	.	.	0.375	0.41656	-1.0353	0.18762	T	0.022	0.09375	T	10	0.0037401915	0.00069	T	.	.	.	0.073	0.21317	.	.	0.043077524339	0.03247	0.10235508650922537	0.10165	.	.	0.916940689087	0.98082	D	0.002038	0.01442	T	-0.415309	0.01834	T	-0.357662	0.38323	T	0.167262915010088	0.18392	T	0.515049	0.16594	T	0.103358746	0.24429	0.211936	0.45642	0.103358746	0.24429	0.211936	0.45641	-6.29	0.48642	T	.	.	0.234	0.46722	B	.;.	.;.	3.177533	0.43117	21.7	0.99135782682843443	0.53383	0.29635	0.23873	N	AEFDBHCI	0.102283	0.20523	N	-0.0948424049289767	0.37617	2.191192	-0.143223879353482	0.33669	1.928434	0.999992845892264	0.74766	0.205752	0.04085	2	0.550933	0.16991	0	0.459711	0.06710	0	0.727631	0.95156	0	.	.	3.4	3.4	0.38031	3.370000	0.52099	5.950000	0.51632	0.486000	0.22242	1.000000	0.71638	1.000000	0.68203	0.610000	0.31640	0.0:0.0:1.0:0.0	10.578	0.44430	970	0.06235	Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	393.98	26	chr19	55482427	.	G	A	393.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.502;DP=651;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.13;ReadPosRankSum=-2.127e+00;SOR=0.610	GT:AD:DP:GQ:PL	0/0:33,0:33:93:0,93,1395	20	0	1	0
chr19	55486564	55486564	G	C	exonic	NAT14	.	nonsynonymous SNV	NAT14:NM_020378:exon3:c.G229C:p.V77L,	.	.	406	1113	3	0	0	3	0.0013459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.0	B	0.0	B	0.002	N	0.909	N	-1.15	N	.	.	-0.995	T	0.017	T	0.054	-0.709	0.942	-0.405	0.200	0.162	3.592	0.043	0.0164794337621	.	.	3.539e-05	0	0	0	0	3.272e-05	0.0026	0	1.29e-05	2	154602	rs561771561	5.583e-06	6.156e-06	6.942e-06	4.21e-06	0.0002	2.4e-06	1.74e-06	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.521e-06	3.357e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.002077	0.37317	N	0.176912	0.90865	0.27554	N	-1.735	0.00332	N	.	.	.	0.99	0.01428	N	0.038	0.01203	-0.9945	0.31432	T	0.017	0.06855	T	9	0.019770592	0.00446	T	0.016479	0.37757	T	0.043	0.11576	0.246	0.18139	0.134241683229	0.13084	0.47360274471038727	0.47279	0.272789235297	0.29784	0.803345799446	0.82474	D	0.003902	0.03313	T	-0.33156	0.05994	T	-0.714039	0.05089	T	0.0235461437271733	0.01088	T	0.528747	0.17479	T	0.03382459	0.03677	0.027829427	0.00966	0.03382459	0.03677	0.027829427	0.00966	-2.574	0.06308	T	.	.	0.092	0.13409	B	.	.	-0.657482	0.01423	0.084	0.69957871779934611	0.09139	0.02703	0.07351	N	AEFDBHCI	0.056389	0.10421	N	-1.12802719416376	0.06149	0.2822918	-1.02850573763821	0.09161	0.4542422	0.999994903284081	0.74766	0.741868	0.97996	0	0.550933	0.16991	0	0.774882	0.98623	0	0.372554	0.06265	0	.	.	3.41	-0.405	0.11775	-0.347000	0.07799	0.017000	0.13531	-0.165000	0.11486	0.001000	0.13787	0.000000	0.08366	0.211000	0.22211	0.3278:0.3474:0.3248:0.0	3.592	0.07541	970	0.06235	GNAT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2042.08	36	chr19	55486564	.	G	C	2042.08	.	AC=2;AF=0.048;AN=42;DP=759;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.60;SOR=1.131	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1168	20	1	0	0
chr19	55622185	55622185	C	T	exonic	ZNF784	.	nonsynonymous SNV	ZNF784:NM_203374:exon2:c.G538A:p.E180K,	.	.	326	1176	20	0	0	20	0.0084317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.895	P	0.191	B	0.002	N	1.000	D	0.695	N	2.99	T	-0.909	T	0.014	T	0.486	2.066	12.86	3.21	2.113	0.548	10.200	0.081	.	.	0.0091853	0.0179	0.0060	0	0	0	0.0078	0	0.0236	0.0042237	653	154602	rs200843026	0.0100	0.0097	0.0098	0.0103	0.0203	0.0099	0.0098	0.0195	0.0191	0.0013	0.0027	0.0031	0	0.0110	0.0069	0.0103	0.0087	0.0203	0.0065	0.0065	0.0065	0.0064	0.0223	0.0061	0.0060	0.0189	0.0176	0.0014	0	0.0030	0.0032	0.0004	0.0059	0	0.0101	0.0038	0.0223	0.506	0.07594	T	0.83	0.03717	T	0.895	0.49247	P	0.191	0.36391	B	0.001782	0.37998	N	0.000000	1	0.81001	D	0.895	0.22405	L	2.99	0.09262	T	0.14	0.05405	N	0.075	0.04913	-0.9087	0.47013	T	0.014	0.05753	T	10	0.003662169	0.00067	T	.	.	.	0.081	0.23632	.	.	0.186928172975	0.18263	0.34875874643154625	0.34789	1.55192575573	0.87917	0.892487764359	0.95567	D	0.004066	0.03473	T	-0.509117	0.00508	T	-0.487831	0.23619	T	0.0175677526721644	0.00490	T	0.713029	0.32487	T	0.12963565	0.30272	0.116971575	0.28237	0.12963565	0.30271	0.116971575	0.28236	-4.935	0.36126	T	.	.	0.355	0.56920	A	.	.	3.237655	0.44185	21.9	0.99802079065761995	0.88639	0.31536	0.24362	N	AEFDBCI	0.097369	0.19640	N	-0.357853418025427	0.26985	1.477026	-0.387883954714795	0.25357	1.393988	0.995097536887973	0.33950	0.580535	0.33130	0	0.550933	0.16991	0	0.536957	0.11973	0	0.604944	0.38103	0	.	.	3.21	3.21	0.35933	0.983000	0.29150	2.625000	0.33658	0.522000	0.23927	0.095000	0.22689	0.858000	0.27459	0.539000	0.29915	0.0:1.0:0.0:0.0	10.200	0.42254	911	0.21964	.	ZNF784|ZNF784|CTD-2537I9.18|ZNF784	Adipose_Subcutaneous|Nerve_Tibial|Thyroid|Thyroid	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	505.98	35	chr19	55622185	.	C	T	505.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.97;DP=726;ExcessHet=0.0000;FS=1.127;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.73;ReadPosRankSum=-1.097e+00;SOR=0.874	GT:AD:DP:GQ:PL	0/0:31,0:31:93:0,93,913	20	0	1	0
chr19	55644594	55644594	G	A	exonic	ZNF581	.	nonsynonymous SNV	ZNF581:NM_016535:exon2:c.G23A:p.C8Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.085	B	0.094	B	.	.	1.000	D	0.345	N	2.89	T	-1.020	T	0.018	T	0.353	0.278	5.505	2.5	1.725	1.337	8.649	0.037	0.00969693068052	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169462744	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.038	0.52060	D	0.085	0.24868	B	0.094	0.30180	B	.	.	.	.	0.981855	0.25008	N	0.695	0.17993	N	2.89	0.10196	T	-0.92	0.24676	N	0.285	0.32259	-1.0205	0.23551	T	0.018	0.07518	T	9	0.10351887	0.19034	T	0.009697	0.25336	T	0.037	0.09474	0.399	0.42753	0.112648838833	0.10856	0.263952309475466	0.26308	1.31395625431	0.83289	0.652806580067	0.60385	T	0.029075	0.20915	T	-0.202237	0.20483	T	-0.528276	0.19458	T	0.148757925853728	0.17004	T	0.506149	0.16021	T	0.26654762	0.49725	0.22301999	0.47166	0.26654762	0.49725	0.22301999	0.47165	-4.505	0.30954	T	.	.	0.211	0.45049	B	.;.;.;.	.;.;.;.	2.077704	0.26423	17.11	0.62503780187152713	0.06979	0.38187	0.25932	N	AEFBCI	0.220119	0.34491	N	-0.808166955475174	0.13102	0.6430826	-0.841555605059506	0.13490	0.7001029	0.999998315165555	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	2.5	2.5	0.29355	0.227000	0.17575	2.869000	0.35254	0.526000	0.24426	0.000000	0.06391	0.234000	0.23804	0.233000	0.22815	0.0:0.0:1.0:0.0	8.649	0.33186	929	0.16858	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1220.98	33	chr19	55644594	.	G	A	1220.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.134e+00;DP=780;ExcessHet=0.0000;FS=4.120;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=-3.630e-01;SOR=0.342	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1018	20	0	1	0
chr19	55678602	55678602	G	A	exonic	EPN1	.	nonsynonymous SNV	EPN1:NM_001130071:exon3:c.G308A:p.C103Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.681	P	0.089	B	.	.	1.000	N	.	.	2.47	T	-1.038	T	0.026	T	0.085	2.547	14.48	1.5	0.658	0.157	8.603	0.074	0.0396148521541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.961e-07	4.104e-06	0	1.403e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.677e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.681	0.41422	P	0.089	0.29769	B	.	.	.	.	1	0.21028	N	.	.	.	2.47	0.14783	T	0.0	0.07008	N	0.266	0.30118	-1.0383	0.17832	T	0.026	0.11043	T	8	0.13506365	0.25702	T	0.039615	0.58911	D	0.074	0.21613	0.242	0.17524	0.252162846088	0.24830	0.4719233532865524	0.47111	1.46174912538	0.86360	0.445617675781	0.31346	T	.	.	.	-0.301337	0.08534	T	-0.670626	0.07569	T	0.268650916351005	0.23689	T	0.424358	0.11346	T	.	.	.	.	.	.	.	.	-5.622	0.42993	T	.	.	0.167	0.36850	B	.	.	1.253358	0.16501	12.58	0.94829923703279739	0.25609	0.05579	0.11480	N	AEFGBHCI	0.150124	0.27436	N	-0.528129356396981	0.21175	1.121815	-0.650444670833936	0.18206	0.9715283	0.99999978250242	0.74766	0.722319	0.85440	0	0.52208	0.09955	0	0.723133	0.82415	0	0.735409	0.98432	0	.	.	2.56	1.5	0.22029	-0.094000	0.11060	1.238000	0.25088	0.613000	0.49114	0.000000	0.06391	0.022000	0.20871	0.497000	0.28949	0.0:0.3106:0.6894:0.0	8.603	0.32918	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1910.98	33	chr19	55678602	.	G	A	1910.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.934e+00;DP=843;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=1.19;SOR=0.714	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1410	20	0	1	0
chr19	55761991	55761991	A	G	exonic	RFPL4A	.	nonsynonymous SNV	RFPL4A:NM_001145014:exon2:c.A191G:p.K64R,	.	.	452	1061	8	1	0	10	0.00469043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.0	B	0.004	B	.	.	1.000	N	0.69	N	1.9	T	-1.036	T	0.026	T	0.079	-0.563	1.459	-6.62	-3.558	-2.333	2.282	0.002	.	.	0.00219649	0.0043	0	0.0024	0	0.0201	0.0048	0.0103	0.0031	0.0011061	171	154602	rs202102526	0.0050	0.0049	0.0050	0.0050	0.0052	0.0049	0.0048	0.0051	0.0051	0.0006	0.0031	0.0012	8.399e-05	0.0138	0.0042	0.0052	0.0040	0.0026	0.0046	0.0047	0.0042	0.0050	0.0060	0.0043	0.0042	0.0050	0.0046	0.0011	0	0.0060	0.0020	0.0002	0.0158	0	0.0052	0.0035	0.0028	0.177	0.22224	T	0.424	0.13953	T	0.0	0.02946	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.41	0.12415	N	1.9	0.23486	T	-0.31	0.12099	N	0.065	0.03726	-1.0358	0.18606	T	0.026	0.11220	T	9	0.0036705732	0.00067	T	.	.	.	0.002	0.00045	.	.	0.0297737177859	0.01360	0.052387686679110354	0.05180	0.642582153666	0.57820	0.470957577229	0.34812	T	0.007892	0.07266	T	-0.70033	0.00036	T	-0.777936	0.02516	T	0.00230836032271605	0.00024	T	0.345165	0.07572	T	0.0277982	0.02022	0.03040241	0.01490	0.0277982	0.02022	0.03040241	0.01490	-4.089	0.25128	T	.	.	0.081	0.08417	B	.	.	0.157165	0.05482	1.950	0.67676882740748467	0.08426	0.00236	0.01316	N	AEFGI	0.020793	0.00858	N	-1.86359620726495	0.00407	0.0175176	-1.99654613396975	0.00311	0.01374765	0.777143047110315	0.23771	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.31	-6.62	0.01646	-2.308000	0.01212	-20.000000	0.00162	-0.971000	0.01942	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1583:0.4539:0.1847:0.2031	2.282	0.03865	834	0.38640	RDM domain, Ret finger protein-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	928.99	37	chr19	55761991	.	A	G	928.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.379e+00;DP=748;ExcessHet=0.0000;FS=4.782;InbreedingCoeff=-0.0252;MLEAC=1;MLEAF=0.024;MQ=39.12;MQRankSum=-8.080e-01;QD=13.87;ReadPosRankSum=-1.679e+00;SOR=0.592	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr19	55789259	55789259	C	T	exonic	NLRP11	.	nonsynonymous SNV	NLRP11:NM_001297743:exon9:c.G2357A:p.R786K	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.024	B	0.013	B	.	.	1.000	N	-1.06	N	1.05	T	-1.022	T	0.024	T	0.032	-1.467	0.018	-5.71	-1.603	-1.051	5.500	0.030	0.00305001854726	.	.	5.84e-05	0	0	0	0	0	0	0.0005	4.53e-05	7	154602	rs762908354	3.148e-05	3.147e-05	1.498e-05	4.815e-05	0.0005	2.413e-05	2.158e-05	0.0004	0.0004	0	0	0	0	0	0	0	1.656e-05	0.0005	6.569e-06	6.566e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.365	0.16717	T	0.014	0.19075	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	-0.37	0.03087	N	1.05	0.39990	T	.	.	.	0.09	0.06854	-1.0222	0.22998	T	0.024	0.10239	T	9	0.039215118	0.02395	T	0.00305	0.06577	T	.	.	0.56	0.67958	0.119812018005	0.11559	0.1020061422669596	0.10131	.	.	0.228957727551	0.01892	T	0.003106	0.02504	T	-0.61274	0.00122	T	-0.807416	0.01724	T	0.024019916793824	0.01148	T	0.331767	0.06954	T	0.03229003	0.03227	0.04602542	0.06324	0.03229003	0.03227	0.04602542	0.06324	-2.739	0.08018	T	.	.	0.112	0.21803	B	.;.;.	.;.;.	-1.013496	0.00752	0.023	0.36984141538716858	0.02410	0.00052	0.00397	N	AEFBI	0.021658	0.00989	N	-1.87946621574834	0.00378	0.01625798	-1.91850954692709	0.00450	0.01990775	0.00222482917535886	0.09245	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.85	-5.71	0.02218	-0.973000	0.03908	-12.751000	0.00503	-0.916000	0.02226	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2605:0.46:0.2795	5.500	0.16114	846	0.36215	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2537.98	33	chr19	55789259	.	C	T	2537.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.636e+00;DP=966;ExcessHet=0.0000;FS=8.840;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=-1.048e+00;SOR=0.790	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr19	55818012	55818012	C	T	exonic	NLRP11	.	nonsynonymous SNV	NLRP11:NM_001385451:exon4:c.G163A:p.V55M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.024	B	0.046	B	.	.	1.000	N	-0.345	N	0.82	T	-1.030	T	0.045	T	0.079	-0.899	0.440	-5.68	-4.082	-1.905	0.689	0.038	0.00278344543637	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs200170935	2.669e-05	2.668e-05	2.451e-05	2.889e-05	8.116e-05	1.998e-05	1.754e-05	3.766e-05	2.662e-05	0	0	0	2.519e-05	0	0	2.609e-05	3.313e-05	8.116e-05	1.314e-05	1.313e-05	1.285e-05	1.344e-05	6.543e-05	2.18e-06	8.2e-07	.	.	0	0	6.543e-05	0	0	9.427e-05	0	0	0	0	.	.	.	0.041	0.50514	D	0.024	0.19075	B	0.046	0.24676	B	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	0.82	0.48142	T	.	.	.	0.081	0.05670	-1.0296	0.20583	T	0.045	0.19194	T	9	0.040356904	0.02598	T	0.002783	0.05781	T	.	.	0.464	0.53404	0.263140351381	0.25927	0.1392132602502698	0.13844	.	.	0.325153976679	0.14201	T	0.004815	0.04227	T	-0.477476	0.00765	T	-0.75451	0.03313	T	0.0440322914597304	0.04426	T	0.586841	0.21439	T	0.02555867	0.01508	0.04921767	0.07475	0.02555867	0.01507	0.04921767	0.07474	-2.963	0.09788	T	.	.	0.116	0.23360	B	.;.	.;.	-0.803313	0.01100	0.049	0.59045724391387311	0.06132	0.00080	0.00545	N	AEFBI	0.016709	0.00393	N	-2.24302593330208	0.00061	0.002630156	-2.33641839341886	0.00055	0.002415393	0.999988122175511	0.51787	0.487112	0.14033	0	0.491513	0.07743	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.84	-5.68	0.02240	-1.614000	0.02160	-1.279000	0.05831	-1.951000	0.00483	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2006:0.2902:0.2304:0.2788	0.689	0.00832	792	0.45996	.;DAPIN domain|DAPIN domain|DAPIN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1455.98	33	chr19	55818012	.	C	T	1455.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.756;DP=841;ExcessHet=0.0000;FS=1.432;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.74;ReadPosRankSum=1.36;SOR=0.566	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1188	20	0	1	0
chr19	55859212	55859212	C	G	exonic	NLRP4	.	nonsynonymous SNV	NLRP4:NM_134444:exon3:c.C1819G:p.Q607E,	.	.	431	1087	4	0	0	4	0.00183655	.	.	2375549	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.663	P	0.327	B	.	.	1.000	N	0.66	N	-2.3	D	-0.649	T	0.355	T	0.143	-0.742	0.842	-2.2	-0.264	-0.379	7.748	0.188	0.0139917753681	.	.	0.0001	0	0	0	0	4.547e-05	0	0.0006	8.41e-05	13	154602	rs773500922	5.64e-05	5.609e-05	3.413e-05	7.903e-05	0.0004	4.635e-05	4.26e-05	0.0003	0.0003	0	0	0	0	0	0	3.8e-05	6.666e-05	0.0004	1.971e-05	1.97e-05	0	4.035e-05	0.0004	5.24e-06	2.45e-06	7.287e-05	3.028e-05	0	0	6.547e-05	0	0	0	0	0	0	0.0004	0.701	0.04162	T	1.0	0.04274	T	0.533	0.40973	P	0.076	0.35394	B	.	.	.	.	1	0.08975	N	0.905	0.23240	L	-2.3	0.87671	D	-0.11	0.08653	N	0.06	0.03726	-0.6494	0.62740	T	0.355	0.71819	T	9	0.03908372	0.02372	T	0.013992	0.33799	T	0.188	0.46444	.	.	0.602481039113	0.59930	0.0746030368491124	0.07396	0.0505186833795	0.05550	0.222601354122	0.01465	T	0.009814	0.08911	T	-0.361267	0.04059	T	-0.41398	0.31768	T	0.0646490033269953	0.07879	T	0.493751	0.15260	T	0.047281697	0.08055	0.045798734	0.06242	0.047281697	0.08055	0.045798734	0.06242	-3.832	0.21283	T	.	.	0.086	0.13503	B	.;.	.;.	0.021296	0.04431	1.162	0.17718054448898532	0.00528	0.00803	0.03267	N	AEFDBI	0.029318	0.02744	N	-1.09646860679709	0.06708	0.3095528	-1.22442245147591	0.05519	0.2632177	3.29480536540571E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.23	-2.2	0.06601	-0.508000	0.06426	-2.472000	0.03712	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1744:0.3123:0.5134:0.0	7.748	0.28049	900	0.24599	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1978.98	41	chr19	55859212	.	C	G	1978.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.345e+00;DP=966;ExcessHet=0.0000;FS=2.985;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=-1.058e+00;SOR=0.467	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr19	55912526	55912526	C	G	exonic	NLRP13	.	nonsynonymous SNV	NLRP13:NM_001321057:exon5:c.G1291C:p.V431L	.	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.993	D	.	.	1.000	N	2.355	M	-0.83	T	-0.582	T	0.483	T	0.356	2.760	15.19	0.085	-0.022	-0.219	3.418	0.287	0.0594253782644	.	.	6.59e-05	0	0	0	0	0.0001	0	6.057e-05	5.17e-05	8	154602	rs759986648	5.267e-05	5.267e-05	5.173e-05	5.363e-05	0.0007	4.277e-05	3.953e-05	0.0002	0.0001	0	0	0.0015	5.038e-05	0	0.0007	1.079e-05	0.0002	8.115e-05	4.6e-05	4.597e-05	3.854e-05	5.381e-05	4.41e-05	2.109e-05	1.527e-05	1.171e-05	6.25e-06	0	0	0	0.0009	0	0	0	4.41e-05	0.0005	0	0.041	0.41915	D	0.019	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	.	.	.	.	0.999982	0.18198	N	2.605	0.76211	M	-0.83	0.74159	T	-1.8	0.42384	N	0.115	0.16028	-0.5816	0.65554	T	0.483	0.80291	T	9	0.17134601	0.31849	T	0.059425	0.67659	D	0.287	0.60574	0.758	0.88730	0.471052466308	0.46733	0.19073547872646465	0.18991	0.048874627405	0.05341	0.286559551954	0.08424	T	0.033969	0.23133	T	-0.174047	0.24626	T	-0.318654	0.42723	T	0.148870552500353	0.17013	T	0.555844	0.19272	T	0.08175647	0.18801	0.07667778	0.17005	0.08175647	0.18801	0.07667778	0.17005	-7.164	0.55222	T	.	.	0.282	0.51480	B	.;.	.;.	1.233662	0.16288	12.44	0.97377218342507688	0.33652	0.14043	0.18191	N	AEFBI	0.061046	0.11644	N	-0.421690024375016	0.24710	1.33619	-0.719761436948641	0.16469	0.871362	2.02292347156819E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.55	0.085	0.13750	-0.152000	0.10145	-2.311000	0.03916	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.170000	0.20979	0.2492:0.5939:0.0:0.1569	3.418	0.06954	895	0.25842	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1897.98	34	chr19	55912526	.	C	G	1897.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.22;DP=3266;ExcessHet=0.0000;FS=1.910;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=0.428;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:138,0:138:99:.:.:0,120,1800	20	0	1	0
chr19	55932076	55932076	C	A	exonic	NLRP13	.	nonsynonymous SNV	NLRP13:NM_001321057:exon1:c.G236T:p.G79V	.	.	439	1082	1	0	0	1	0.000461894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.494	P	0.17	B	.	.	1.000	N	0.345	N	0.79	T	-1.054	T	0.055	T	0.185	1.009	9.122	-1.62	-0.338	-1.827	2.055	0.025	0.00388345138052	.	.	0.0002	0	0	0.0006	0	5.998e-05	0	0.0008	0.0001423	22	154602	rs763183429	0.0001	0.0001	0.0001	0.0002	0.0014	0.0001	0.0001	0.0012	0.0011	0	0	3.826e-05	0.0012	0	0	2.068e-05	0.0003	0.0014	6.568e-05	6.562e-05	6.425e-05	6.717e-05	0.0010	3.515e-05	2.615e-05	0.0004	0.0003	0	0	0	0	0.0008	0	0	1.47e-05	0	0.0010	0.089	0.32141	T	0.159	0.39190	T	0.494	0.37037	P	0.17	0.35299	B	.	.	.	.	1	0.08975	N	1.15	0.29295	L	0.79	0.49068	T	-1.2	0.30555	N	0.241	0.27197	-1.0538	0.13359	T	0.055	0.23262	T	9	0.045886666	0.03712	T	0.003883	0.09117	T	0.025	0.05312	.	.	0.422524665647	0.41870	0.04786445269929214	0.04729	0.0649752695201	0.07257	0.296583533287	0.09892	T	0.003937	0.03343	T	-0.547231	0.00303	T	-0.62359	0.10906	T	0.0403642070663377	0.03756	T	0.424958	0.11391	T	0.035819564	0.04288	0.042790435	0.05176	0.035819564	0.04288	0.042790435	0.05175	-4.579	0.31907	T	.	.	0.141	0.32275	B	.;.	.;.	-0.027328	0.04097	0.964	0.97098106973445952	0.32353	0.00367	0.01872	N	AEFBI	0.032899	0.03801	N	-1.05794897177841	0.07432	0.3452459	-1.21220008796217	0.05713	0.2729874	2.42182165804857E-6	0.01202	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.97	-1.62	0.07926	-1.187000	0.03176	-2.357000	0.03856	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.257:0.4052:0.0:0.3377	2.055	0.03362	934	0.15400	DAPIN domain|DAPIN domain|DAPIN domain;DAPIN domain|DAPIN domain|DAPIN domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1181.98	39	chr19	55932076	.	C	A	1181.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.850e-01;DP=820;ExcessHet=0.0000;FS=1.527;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.84;ReadPosRankSum=1.26;SOR=0.550	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1506	20	0	1	0
chr19	56026952	56026952	T	A	exonic	NLRP5	.	nonsynonymous SNV	NLRP5:NM_153447:exon7:c.T719A:p.M240K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.313	N	1.000	N	0.805	L	-0.46	T	-0.995	T	0.126	T	0.233	-1.066	0.177	2.39	0.654	-0.182	5.877	0.131	0.00829455149745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.978	0.02017	T	0.002	0.79402	D	0.001	0.07471	B	0.001	0.04355	B	0.313398	0.14394	N	0.579052	1	0.08975	N	0.46	0.12951	N	-0.46	0.70014	T	-0.24	0.10833	N	0.248	0.31590	-0.9951	0.31272	T	0.126	0.43132	T	10	0.05839303	0.06858	T	0.008295	0.21954	T	0.131	0.35738	0.553	0.66995	0.201204373187	0.19734	0.4412532351946989	0.44042	0.0260266214271	0.02658	0.335711359978	0.15795	T	0.027469	0.20108	T	-0.174575	0.24545	T	-0.488542	0.23544	T	0.0359822534601765	0.02978	T	0.457954	0.13172	T	0.26821107	0.49894	0.23757492	0.49059	0.26821107	0.49893	0.23757492	0.49058	-3.292	0.13634	T	.	.	0.187	0.40360	B	.;.	.;.	0.637697	0.10061	6.811	0.83678618374337721	0.14859	0.02962	0.07799	N	AEFDBHI	0.022864	0.01197	N	-1.11247875373205	0.06419	0.2954732	-1.11968700936832	0.07325	0.3558346	3.04809162647605E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.45	2.39	0.28492	0.030000	0.13576	-0.064000	0.12386	0.651000	0.53179	0.009000	0.18154	0.000000	0.08366	0.085000	0.17524	0.2341:0.0:0.0:0.7659	5.877	0.18082	969	0.06854	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1215.98	35	chr19	56026952	.	T	A	1215.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.03;DP=828;ExcessHet=0.0000;FS=4.215;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=-8.390e-01;SOR=1.204	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr19	56027338	56027338	T	G	exonic	NLRP5	.	nonsynonymous SNV	NLRP5:NM_153447:exon7:c.T1105G:p.S369A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.316	B	0.219	B	0.186	N	1.000	N	0.435	N	-1.19	T	-0.913	T	0.176	T	0.059	0.093	4.502	-2.53	-0.662	0.106	1.105	0.160	0.0235409030493	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1444046913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.359	0.11957	T	0.133	0.34359	T	0.316	0.32901	B	0.219	0.37734	B	0.186483	0.16962	N	0.435784	1	0.08975	N	0.805	0.20218	L	-1.19	0.78427	T	-0.67	0.19297	N	0.127	0.13911	-0.9131	0.46467	T	0.176	0.52115	T	10	0.15582001	0.29360	T	0.023541	0.46505	T	0.160	0.41473	0.673	0.81101	0.449283877778	0.44552	0.040105893195767676	0.03956	0.0382343898037	0.04063	0.287763416767	0.08596	T	0.046785	0.27527	T	-0.209403	0.19463	T	-0.53857	0.18438	T	0.266170382499695	0.23582	T	0.30387	0.05776	T	0.12683795	0.29699	0.06538309	0.13242	0.12683795	0.29698	0.06538309	0.13242	-4.692	0.33307	T	.	.	0.076	0.06479	B	.;.	.;.	-0.130992	0.03462	0.641	0.65523672114929288	0.07797	0.02890	0.07677	N	AEFDBI	0.035279	0.04514	N	-1.11764128235368	0.06329	0.2910553	-1.23968216392163	0.05286	0.2514795	1.97800839564825E-4	0.05898	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.14	-2.53	0.05959	0.158000	0.16239	-1.276000	0.05839	0.642000	0.52262	0.000000	0.06391	0.000000	0.08366	0.034000	0.13613	0.1799:0.1309:0.3672:0.3221	1.105	0.01587	969	0.06854	NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase;NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3008.98	35	chr19	56027338	.	T	G	3008.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.860;DP=1058;ExcessHet=0.0000;FS=1.615;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=-1.144e+00;SOR=0.816	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr19	56158515	56158515	G	A	exonic	ZNF444	.	nonsynonymous SNV	ZNF444:NM_001253792:exon4:c.G319A:p.G107R	.	.	426	1061	35	0	0	35	0.0162262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.0	B	0.001	B	.	.	1.000	N	0	N	3.68	T	-0.900	T	0.005	T	0.081	-0.527	1.598	-1.29	-0.313	-0.496	5.051	0.004	.	0.0067	0.00339457	0.0082	0.0020	0.0049	0	0.0043	0.0115	0.0125	0.0069	0.007943	1228	154602	rs61736532	0.0094	0.0094	0.0095	0.0093	0.0109	0.0093	0.0092	0.0107	0.0107	0.0014	0.0046	0.0007	0	0.0043	0.0096	0.0109	0.0082	0.0066	0.0064	0.0064	0.0069	0.0058	0.0108	0.0060	0.0059	0.0101	0.0099	0.0020	0.0044	0.0029	0.0006	0.0002	0.0030	0	0.0108	0.0095	0.0095	0.697	0.04213	T	0.439	0.13365	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.68	0.05014	T	0.6	0.02518	N	0.128	0.12198	-0.9002	0.47973	T	0.005	0.01542	T	9	0.0043236613	0.00087	T	.	.	.	0.004	0.00165	0.283	0.23961	0.110392049598	0.10638	0.2570395806797124	0.25617	0.937401965757	0.72080	0.565487921238	0.48041	T	0.004692	0.04103	T	-0.724695	0.00026	T	-0.803363	0.01820	T	4.98587724118808e-05	0.00000	T	0.317668	0.06346	T	0.029129205	0.02357	0.04610857	0.06352	0.029129205	0.02357	0.04610857	0.06352	-4.002	0.24177	T	.	.	0.294	0.52524	B	.;.	.;.	-0.074704	0.03794	0.801	0.45673323173144625	0.03602	0.01628	0.05253	N	AEFDBI	0.048564	0.08300	N	-1.46357144132358	0.02112	0.09293035	-1.50598447123722	0.02297	0.1054501	0.0246714341579052	0.13596	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	2.69	-1.29	0.08805	-0.132000	0.10446	.	.	-0.179000	0.10443	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4134:0.4452:0.1414	5.051	0.13849	928	0.17405	SCAN domain;SCAN domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	749.98	33	chr19	56158515	.	G	A	749.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.950e-01;DP=758;ExcessHet=0.0000;FS=2.212;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=-1.575e+00;SOR=0.380	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,974	20	0	1	0
chr19	56159912	56159912	-	CCCCGGCAG	exonic	ZNF444	.	nonframeshift insertion	ZNF444:NM_001253792:exon5:c.692_693insCCCCGGCAG:p.G236_P237insSPG	.	.	425	1005	77	3	12	95	0.039656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1845.05	34	chr19	56159903	.	ACCCCGGCAG	ACCCCGGCAGCCCCGGCAG,A	1845.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.42;DP=777;ExcessHet=0.1072;FS=3.864;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=19.22;ReadPosRankSum=-2.150e-01;SOR=1.168	GT:AD:DP:GQ:PL	0/0:35,0,0:35:99:0,102,1231,102,1231,1231	19	0	1	0
chr19	56190112	56190112	G	T	exonic	ZSCAN5B	.	nonsynonymous SNV	ZSCAN5B:NM_001080456:exon5:c.C1203A:p.H401Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	.	.	0.973	D	3.955	H	-2.18	D	0.699	D	0.828	D	0.601	1.648	11.47	2.09	0.666	0.243	8.113	0.462	0.00171614023959	.	.	8.278e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs754994212	3.284e-05	3.283e-05	3.267e-05	3.301e-05	0.0002	2.543e-05	2.249e-05	3.085e-05	2.753e-05	0	0	0	0	0	0.0002	4.047e-05	3.312e-05	0	2.628e-05	2.627e-05	0	5.38e-05	0.0003	8.14e-06	5.14e-06	8.881e-05	5.389e-05	0	0	0.0003	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.973357	0.39017	D	4.015	0.96844	H	-2.18	0.86722	D	-7.89	0.96166	D	0.597	0.61680	0.699	0.93157	D	0.828	0.94235	D	9	0.9045203	0.89816	D	0.001716	0.02856	T	0.462	0.75889	0.762	0.89053	0.59202398213	0.58879	0.4646484738264827	0.46383	0.0987769954681	0.11157	0.816955804825	0.84560	D	0.270112	0.64236	T	0.163663	0.70539	D	-0.00268536	0.70161	D	0.991000354290009	0.81251	D	0.731927	0.34732	T	0.68856055	0.77433	0.5774306	0.75515	0.68856055	0.77435	0.5774306	0.75516	-13.422	0.91026	D	.	.	0.993	0.96107	P	.;.	.;.	3.631841	0.51449	23.1	0.97376236395424198	0.33647	0.64024	0.32274	D	AEFGBHCI	0.210301	0.33621	N	0.20927840731715	0.51648	3.34445	-0.0678840144528043	0.36726	2.141042	2.19050155789655E-4	0.05997	0.554377	0.28877	0	0.588066	0.40923	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	3.15	2.09	0.26154	3.530000	0.53294	.	.	0.373000	0.20310	1.000000	0.71638	0.000000	0.08366	0.161000	0.20682	0.1285:0.0:0.8715:0.0	8.113	0.30086	922	0.19044	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3094.98	33	chr19	56190112	.	G	T	3094.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.415e+00;DP=1011;ExcessHet=0.0000;FS=2.098;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.00;ReadPosRankSum=0.199;SOR=0.838	GT:AD:DP:GQ:PL	0/1:132,126:258:99:3109,0,3415	20	0	1	0
chr19	56191870	56191870	C	T	exonic	ZSCAN5B	.	nonsynonymous SNV	ZSCAN5B:NM_001080456:exon3:c.G568A:p.A190T	.	.	426	1092	4	0	0	4	0.00182815	.	.	3421077	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.62	T	0.001	B	0.001	B	.	.	1.000	N	-0.55	N	3.4	T	-0.972	T	0.006	T	0.045	1.553	11.15	-3.81	-2.725	-3.709	1.615	0.020	0.000522994835994	.	.	0.0001	0	0	0	0	7.581e-05	0	0.0005	9.06e-05	14	154602	rs757976812	4.994e-05	4.994e-05	4.492e-05	5.501e-05	0.0016	4.059e-05	3.734e-05	0.0008	0.0006	0	8.944e-05	3.826e-05	7.557e-05	0	0.0016	1.979e-05	0.0001	0.0003	5.26e-05	5.254e-05	5.142e-05	5.382e-05	0.0002	2.558e-05	1.831e-05	1.972e-05	1.125e-05	2.415e-05	0	6.549e-05	0	0.0002	0	0.0032	5.881e-05	0	0	0.501	0.07720	T	0.734	0.05090	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	3.4	0.05642	T	0.21	0.04776	N	0.105	0.08925	-0.9716	0.36862	T	0.006	0.01870	T	9	0.028461218	0.00978	T	5.23E-4	0.00174	T	0.020	0.03691	0.384	0.40298	0.0482279557977	0.04254	0.03744932293745089	0.03690	0.0130179826969	0.01253	0.31578502059	0.12783	T	0.003761	0.03171	T	-0.673305	0.00053	T	-0.900385	0.00500	T	0.0124382818815172	0.00204	T	0.269973	0.04523	T	0.026911257	0.01810	0.048033446	0.07048	0.026911257	0.01809	0.048033446	0.07048	-3.598	0.17828	T	.	.	0.178	0.40889	B	.;.	.;.	-1.006235	0.00762	0.024	0.77052528778526319	0.11717	0.00072	0.00504	N	AEFBI	0.018723	0.00590	N	-1.96066572043616	0.00257	0.01100672	-2.03682902796366	0.00256	0.01127441	0.00102754490975278	0.08137	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	1.9	-3.81	0.04013	-2.429000	0.01101	.	.	-0.574000	0.04772	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.1407:0.3668:0.2783:0.2142	1.615	0.02538	922	0.19044	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1413.98	46	chr19	56191870	.	C	T	1413.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.998e+00;DP=801;ExcessHet=0.0000;FS=1.703;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=1.84;SOR=0.496	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1185	20	0	1	0
chr19	56191902	56191902	G	A	exonic	ZSCAN5B	.	nonsynonymous SNV	ZSCAN5B:NM_001080456:exon3:c.C536T:p.A179V	.	.	427	1081	13	1	0	15	0.00689022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.997	D	0.985	D	.	.	1.000	N	1.85	L	3.4	T	-1.037	T	0.031	T	0.05	-0.016	3.932	-2.78	-0.534	-1.021	2.803	0.032	0.000443102438536	0.0012	0.000399361	0.0010	0	0.0003	0	0	0.0012	0.0011	0.0018	0.0008732	135	154602	rs199497935	0.0011	0.0011	0.0009	0.0012	0.0090	0.0010	0.0010	0.0071	0.0064	2.987e-05	0.0005	0.0010	0	0.0001	0.0090	0.0010	0.0014	0.0023	0.0008	0.0008	0.0009	0.0006	0.0019	0.0007	0.0006	0.0010	0.0008	0.0003	0	0.0008	0.0017	0	0.0002	0	0.0010	0.0024	0.0019	0.196	0.20683	T	0.269	0.22426	T	0.997	0.70673	D	0.985	0.76457	D	.	.	.	.	1	0.08975	N	1.68	0.43186	L	3.4	0.05642	T	-0.74	0.20791	N	0.03	0.00717	-1.0366	0.18357	T	0.031	0.13461	T	9	0.006159246	0.00139	T	4.43E-4	0.00099	T	0.032	0.07718	.	.	0.143124449307	0.13826	0.07072266230011033	0.07009	0.0983498862426	0.11110	0.299490571022	0.10324	T	0.004394	0.03798	T	-0.727601	0.00025	T	-0.816971	0.01514	T	0.041492736840577	0.03961	T	0.720728	0.33361	T	0.029086264	0.02347	0.04209941	0.04935	0.029086264	0.02346	0.04209941	0.04935	-3.655	0.18656	T	.	.	0.181	0.39442	B	.;.	.;.	-0.032296	0.04066	0.945	0.61490145670609297	0.06722	0.00126	0.00785	N	AEFBI	0.023150	0.01251	N	-0.592595103882097	0.19168	1.001098	-0.92303017783393	0.11551	0.5891608	4.4305189627458E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	1.9	-2.78	0.05512	-0.944000	0.04022	.	.	0.342000	0.19800	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4016:0.2459:0.3525:0.0	2.803	0.05087	922	0.19044	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1658.98	35	chr19	56191902	.	G	A	1658.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.536e+00;DP=930;ExcessHet=0.0000;FS=2.021;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.50;ReadPosRankSum=-1.685e+00;SOR=0.861	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1185	20	0	1	0
chr19	56208826	56208826	G	A	exonic	ZSCAN5C	.	nonsynonymous SNV	ZSCAN5C:NM_001358413:exon4:c.G1117A:p.V373I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	.	.	2.25	T	-1.001	T	0.013	T	0.079	-2.880	0.001	-2.76	-2.342	-5.873	4.329	0.010	0.000226132683067	.	.	4.463e-05	0	0	0	0	6.471e-05	0	6.355e-05	4.53e-05	7	154602	rs200083612	6.757e-05	6.712e-05	7.252e-05	6.262e-05	7.713e-05	5.644e-05	5.242e-05	6.337e-05	5.823e-05	3.138e-05	2.254e-05	0.0001	0	0	0	7.713e-05	6.832e-05	4.705e-05	5.274e-05	5.253e-05	3.869e-05	6.741e-05	7.356e-05	2.564e-05	1.835e-05	2.848e-05	1.859e-05	2.433e-05	0	6.549e-05	0	0	0	0	7.356e-05	0.0005	0	1.0	0.00964	T	0.973	0.02465	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.25	0.17761	T	0.61	0.02480	N	0.031	0.01068	-1.0011	0.29602	T	0.013	0.04938	T	6	0.046458095	0.03839	T	2.26E-4	0.00006	T	0.010	0.01040	0.247	0.18293	0.0401082797425	0.02173	0.02805130801003512	0.02755	0.00738871656898	0.00648	.	.	.	5.97E-4	0.00245	T	-0.554251	0.00275	T	-0.818585	0.01481	T	0.0311967388504689	0.02177	T	0.473453	0.14099	T	0.015106304	0.00122	0.024336869	0.00452	0.015106304	0.00122	0.024336869	0.00452	-3.09	0.11182	T	.	.	0.183	0.40229	B	.;.	.;.	-1.249987	0.00483	0.010	0.1820342062255913	0.00562	0.00029	0.00276	N	AEFDGBI	0.020513	0.00818	N	-1.65724445749086	0.01005	0.04356123	-1.89122906459377	0.00510	0.02258063	0.190015975158835	0.17987	0.554377	0.28877	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	1.38	-2.76	0.05547	-4.542000	0.00251	.	.	-1.792000	0.00636	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2589:0.4055:0.3356:0.0	4.329	0.10493	934	0.15400	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4577.98	38	chr19	56208826	.	G	A	4577.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.05;DP=1274;ExcessHet=0.0000;FS=1.815;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=2.39;SOR=0.596	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,101,1372	20	0	1	0
chr19	56208993	56208993	G	C	exonic	ZSCAN5C	.	nonsynonymous SNV	ZSCAN5C:NM_001358413:exon4:c.G1284C:p.K428N,	.	.	415	1077	29	1	0	31	0.0141876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	.	.	.	.	.	.	1.000	N	.	.	3.19	T	-0.962	T	0.018	T	0.022	1.195	9.857	-1.27	-0.237	-5.119	4.086	0.007	.	.	0.00439297	0.0075	0.0012	0.0067	0	0.0023	0.0087	0.0068	0.0131	0.0069469	1074	154602	rs184245764	0.0087	0.0087	0.0085	0.0089	0.0123	0.0086	0.0085	0.0108	0.0105	0.0018	0.0048	0.0054	2.519e-05	0.0032	0.0123	0.0095	0.0090	0.0114	0.0064	0.0064	0.0066	0.0062	0.0130	0.0060	0.0059	0.0105	0.0095	0.0016	0.0175	0.0053	0.0063	0	0.0023	0.0068	0.0100	0.0067	0.0130	0.09	0.31987	T	0.232	0.24987	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.19	0.07353	T	-1.2	0.30555	N	0.065	0.05162	-0.9619	0.38819	T	0.018	0.07282	T	6	0.0041446984	0.00082	T	.	.	.	0.007	0.00512	0.32	0.29902	0.0666544352282	0.05500	0.05525170380058242	0.05466	0.00738871656898	0.00648	.	.	.	0.004527	0.03938	T	-0.791495	0.00009	T	-0.899316	0.00508	T	0.00919239028083951	0.00116	T	0.80082	0.44648	T	0.049057763	0.08650	0.042417493	0.05048	0.049057763	0.08649	0.042417493	0.05048	-2.274	0.04415	T	.	.	0.843	0.80310	P	.;.	.;.	0.223470	0.06054	2.498	0.98700064067545512	0.44895	0.00311	0.01644	N	AEFDGBI	0.023980	0.01414	N	-0.905582697636106	0.10710	0.5131586	-1.13804793676242	0.06984	0.3380995	0.00302296144270454	0.09875	0.490419	0.18000	1	0.573888	0.26702	0	0.667716	0.60424	0	0.613276	0.41899	0	.	.	1.38	-1.27	0.08863	-4.396000	0.00275	.	.	-0.392000	0.05338	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1788:0.4776:0.3435:0.0	4.086	0.09422	934	0.15400	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3556.98	38	chr19	56208993	.	G	C	3556.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.070e-01;DP=1108;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.25;MQRankSum=-1.920e-01;QD=12.02;ReadPosRankSum=-1.680e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,101,1372	20	0	1	0
chr19	56222221	56222221	G	A	exonic	ZSCAN5A	.	nonsynonymous SNV	ZSCAN5A:NM_001322077:exon5:c.C494T:p.S165L	.	.	419	1087	16	0	0	16	0.00730594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.029	B	0.003	B	.	.	1.000	N	1.555	L	3.36	T	-0.965	T	0.014	T	0.038	-0.437	1.968	-3.38	-0.961	-0.277	3.435	0.017	0.000987357988313	.	.	0.0024	0.0070	0.0007	0.0012	0.0002	0.0015	0	0.0063	0.0001164	18	154602	rs146091512	0.0011	0.0013	0.0010	0.0013	0.0071	0.0011	0.0011	0.0066	0.0065	0.0007	0.0006	0.0116	0.0019	0.0005	0.0035	0.0004	0.0018	0.0071	0.0011	0.0014	0.0010	0.0011	0.0048	0.0009	0.0009	0.0033	0.0028	0.0009	0	0.0006	0.0104	0.0010	0.0007	0.0068	0.0006	0.0019	0.0048	0.187	0.21385	T	0.23	0.25135	T	0.029	0.19866	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.43	0.35840	L	3.36	0.09635	T	-1.94	0.45042	N	0.038	0.16028	-0.9645	0.38310	T	0.014	0.05608	T	9	0.007154286	0.00163	T	9.87E-4	0.01050	T	0.017	0.02790	.	.	0.130388298395	0.12655	0.12724300887959056	0.12650	0.0585099463108	0.06489	0.263565391302	0.05322	T	0.016764	0.45325	T	-0.740293	0.00021	T	-0.833405	0.01203	T	0.000779366579697761	0.00007	T	0.671133	0.29211	T	0.047343127	0.08078	0.047482938	0.06847	0.047343127	0.08078	0.047482938	0.06847	-3.731	0.19776	T	.	.	0.168	0.41918	B	.;.;.;.;.	.;.;.;.;.	0.504653	0.08736	5.511	0.51735068036967002	0.04617	0.01589	0.05168	N	AEFBI	0.039664	0.05794	N	-1.31309409080676	0.03524	0.1575841	-1.47507454624181	0.02550	0.1174874	9.06666100771661E-5	0.04703	0.615465	0.37627	0	0.653731	0.59785	0	0.49644	0.08281	0	0.655142	0.61905	0	.	.	1.69	-3.38	0.04577	-1.008000	0.03774	.	.	-0.300000	0.06199	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.3887:0.0:0.4311:0.1802	3.435	0.07012	952	0.10565	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4936.11	209	chr19	56222221	.	G	A	4936.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.06;DP=1186;ExcessHet=0.1072;FS=3.232;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=57.83;MQRankSum=-6.031e+00;QD=11.40;ReadPosRankSum=0.165;SOR=0.577	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	19	0	2	0
chr19	56423401	56423401	C	T	exonic	ZNF583	.	nonsynonymous SNV	ZNF583:NM_001159860:exon5:c.C743T:p.T248M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998	D	0.885	P	0.008	N	1.000	N	1.87	L	1.26	T	-1.001	T	0.131	T	0.143	2.320	13.71	3.38	1.214	0.197	3.419	0.078	0.0132501974951	.	.	8.305e-06	0	0	0	0	1.511e-05	0	0	1.94e-05	3	154602	rs200724967	4.721e-05	4.72e-05	5.037e-05	4.401e-05	5.576e-05	3.794e-05	3.476e-05	4.439e-05	4.029e-05	2.987e-05	0	0	0	0	0	5.576e-05	8.281e-05	1.159e-05	4.603e-05	4.598e-05	5.142e-05	4.039e-05	8.821e-05	2.111e-05	1.528e-05	3.762e-05	2.575e-05	0	0	6.551e-05	0	0	0	0	8.821e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	0.998	0.73220	D	0.885	0.62825	P	0.008176	0.30981	N	0.151456	1	0.08975	N	1.57	0.39626	L	1.26	0.36330	T	-1.94	0.45042	N	0.084	0.06059	-1.0010	0.29631	T	0.131	0.44088	T	9	0.15928221	0.29931	T	0.01325	0.32506	T	0.078	0.22779	.	.	0.619248587047	0.61616	0.15939891142175933	0.15860	0.591036329476	0.54550	0.316146790981	0.12838	T	0.054407	0.29715	T	-0.326162	0.06405	T	-0.54992	0.17333	T	0.232529327273369	0.22071	T	0.247375	0.03654	T	0.10652378	0.25188	0.14677249	0.34758	0.10652378	0.25188	0.14677249	0.34758	-8.621	0.65228	D	.	.	0.128	0.30608	B	.;.	.;.	3.236576	0.44165	21.9	0.99753431525988401	0.84460	0.00006	0.00120	N	AEFDGBHCI	0.100102	0.20136	N	-0.0316825273823774	0.40423	2.400412	-0.181581048656744	0.32213	1.830519	0.0260131815130392	0.13685	0.562547	0.31514	0	0.588015	0.36545	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	4.43	3.38	0.37806	0.008000	0.13095	.	.	0.524000	0.24156	0.000000	0.06391	0.000000	0.08366	0.189000	0.21571	0.1791:0.5546:0.1731:0.0932	3.419	0.06958	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1023.98	34	chr19	56423401	.	C	T	1023.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.847;DP=845;ExcessHet=0.0000;FS=5.124;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.34;ReadPosRankSum=-5.210e-01;SOR=0.342	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1122	20	0	1	0
chr19	56442222	56442222	C	T	exonic	ZNF667	.	nonsynonymous SNV	ZNF667:NM_022103:exon5:c.G773A:p.C258Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.99	D	0.005	N	1.000	D	3.055	M	-10.2	D	0.895	D	0.999	D	0.845	1.499	10.96	5.05	2.616	4.671	15.942	0.688	0.0518635902684	.	0.000998403	0.0007	0	0	0	0	0	0.0022	0.0050	0.0005821	90	154602	rs370312876	0.0003	0.0003	0.0002	0.0004	0.0048	0.0003	0.0003	0.0044	0.0042	0	0	0	0	0	0	0	0.0003	0.0048	0.0002	0.0002	3.855e-05	0.0003	0.0058	0.0001	0.0001	0.0041	0.0036	0	0	0	0	0	0	0	0	0	0.0058	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.985	0.76457	D	0.005127	0.33071	N	0.141522	0.999884	0.50402	D	2.535	0.73915	M	-10.2	0.99973	D	-10.64	0.99130	D	0.584	0.64648	0.895	0.95599	D	0.999	0.99972	D	10	0.032320797	0.01381	T	0.051864	0.64837	D	0.688	0.88632	.	.	0.981619403517	0.98142	0.1685042918668298	0.16770	0.32952119624	0.35062	0.659057080746	0.61274	T	0.386278	0.74748	T	0.13219	0.67574	D	0.417646	0.92669	D	0.275804944536599	0.23994	T	0.30317	0.46941	T	0.9117739	0.92460	0.7563115	0.85599	0.9117739	0.92461	0.7563115	0.85599	-6.441	0.49829	T	.	.	0.467	0.63038	A	.;.;.	.;.;.	2.419911	0.31114	18.64	0.77190904021252604	0.11774	0.95990	0.67036	D	AEFGBCI	0.751408	0.69223	D	0.521459848283083	0.68359	5.206467	0.348169789376562	0.58398	4.009996	0.999996656059166	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.564101	0.26826	0	.	.	5.05	5.05	0.67566	4.626000	0.60968	.	.	0.456000	0.21511	1.000000	0.71638	0.018000	0.20648	0.007000	0.07825	0.0:1.0:0.0:0.0	15.942	0.79551	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3435.98	34	chr19	56442222	.	C	T	3435.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.255e+00;DP=1907;ExcessHet=0.0000;FS=1.167;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.41;ReadPosRankSum=-1.010e-01;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:126,0:126:99:.:.:0,120,1800	20	0	1	0
chr19	56442541	56442541	T	C	exonic	ZNF667	.	nonsynonymous SNV	ZNF667:NM_022103:exon5:c.A454G:p.T152A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.009	B	0.015	B	0.166	N	1.000	N	-0.605	N	3.3	T	-0.925	T	0.005	T	0.067	-2.709	0	1.57	0.349	-1.434	2.989	0.008	0.00360578796225	.	.	3.298e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs771408070	1.505e-05	1.505e-05	4.084e-06	2.613e-05	0.0002	9.85e-06	8.41e-06	0.0002	0.0001	0	0	0	0	0	0	0	3.312e-05	0.0002	1.971e-05	1.97e-05	0	4.035e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	0	0	0.0006	0.608	0.05501	T	0.952	0.02603	T	0.009	0.15093	B	0.009	0.14300	B	0.166267	0.17509	N	0.480332	1	0.19363	N	-0.275	0.03743	N	3.3	0.18414	T	-1.07	0.27876	N	0.089	0.06720	-0.9249	0.44872	T	0.005	0.01833	T	10	0.022242397	0.00551	T	0.003606	0.08247	T	0.008	0.00669	.	.	0.214338557667	0.21045	0.053349538352234584	0.05276	0.142486000696	0.16072	0.28199467063	0.07773	T	0.002921	0.02319	T	-0.576148	0.00203	T	-0.785938	0.02279	T	0.0286830649114241	0.01789	T	0.667933	0.27701	T	0.07321644	0.16345	0.042250976	0.04990	0.07321644	0.16345	0.042250976	0.04989	-3.072	0.10977	T	.	.	0.114	0.22609	B	.;.;.	.;.;.	0.667287	0.10358	7.085	0.14692308401265505	0.00333	0.05175	0.10993	N	AEFBI	0.078584	0.15857	N	-1.34903624553977	0.03135	0.1395537	-1.23516987327386	0.05354	0.2549022	1.21084843415521E-5	0.02871	0.562547	0.31514	0	0.573888	0.26702	0	0.608884	0.39905	0	0.564101	0.26826	0	.	.	4.86	1.57	0.22490	-2.061000	0.01478	.	.	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.194000	0.21720	0.336:0.1843:0.0:0.4797	2.989	0.05613	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1729.98	149	chr19	56442541	.	T	C	1729.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=2466;ExcessHet=0.0000;FS=4.852;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.38;ReadPosRankSum=1.17;SOR=0.692	GT:AD:DP:GQ:PL	0/0:140,0:140:99:0,120,1800	20	0	1	0
chr19	56460706	56460706	C	T	exonic	ZNF667	.	nonsynonymous SNV	ZNF667:NM_022103:exon3:c.G143A:p.R48Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.007	B	0.002	B	0.785	N	1.000	N	2.17	M	4.52	T	-0.918	T	0.008	T	0.047	-0.776	0.742	-6.1	-1.408	-1.144	3.474	0.051	0.00136903394759	.	.	4.139e-05	0	0	0.0002	0	4.511e-05	0	0	3.23e-05	5	154602	rs777806361	3.905e-05	3.899e-05	5.454e-05	2.341e-05	0.0003	3.052e-05	2.787e-05	0.0002	0.0001	0.0003	0	7.669e-05	0.0003	1.873e-05	0.0002	2.7e-05	4.975e-05	0	4.6e-05	4.597e-05	5.139e-05	4.036e-05	0.0004	2.109e-05	1.527e-05	6.825e-05	2.856e-05	7.24e-05	0	6.546e-05	0	0.0004	0	0	1.47e-05	0	0	0.369	0.11586	T	0.214	0.26386	T	0.007	0.14184	B	0.002	0.06944	B	0.785399	0.06679	N	1.147620	1	0.18612	N	0.3	0.10203	N	4.52	0.01997	T	-1.06	0.27669	N	0.157	0.16308	-0.9177	0.45864	T	0.008	0.02638	T	10	0.05628088	0.06283	T	0.001369	0.01986	T	0.051	0.14325	0.681	0.81885	0.144782658237	0.14088	0.0829379554580297	0.08228	0.125001582203	0.14086	0.241492122412	0.02926	T	0.002981	0.02381	T	-0.614832	0.00118	T	-0.80093	0.01880	T	0.0102874953299761	0.00140	T	0.10159	0.00820	T	0.0364717	0.04493	0.032801434	0.02071	0.0364717	0.04493	0.032801434	0.02071	-4.499	0.30876	T	.	.	0.083	0.25946	B	.;.;.;.;.	.;.;.;.;.	0.645658	0.10142	6.885	0.75968805118468252	0.11282	0.00214	0.01215	N	AEFBI	0.026304	0.01950	N	-1.48629286667797	0.01946	0.08544832	-1.63051420763971	0.01480	0.06697204	0.00184400549426871	0.08939	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.564101	0.26826	0	.	.	4.28	-6.1	0.01956	-0.855000	0.04403	.	.	-0.181000	0.10308	0.006000	0.17386	0.000000	0.08366	0.912000	0.44740	0.1263:0.5238:0.1286:0.2214	3.474	0.07144	988	0.01987	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	316.98	34	chr19	56460706	.	C	T	316.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.607;DP=725;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.73;ReadPosRankSum=-5.280e-01;SOR=0.618	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1147	20	0	1	0
chr19	56524941	56524941	T	C	exonic	ZNF471	.	nonsynonymous SNV	ZNF471:NM_001321768:exon4:c.T652C:p.C218R	.	.	407	1111	4	0	0	4	0.00179695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	0.993	D	4.235	H	-1.96	D	0.321	D	0.745	D	0.336	2.283	13.59	0.616	-0.131	3.668	5.600	0.288	.	0.0033	0.00179712	0.0010	0.0106	0.0003	0	0	3.004e-05	0	0	0.0008409	130	154602	rs115866304	0.0003	0.0003	0.0004	0.0002	0.0111	0.0003	0.0003	0.0102	0.0098	0.0111	0.0004	0	0	0	0.0010	5.396e-06	0.0008	4.639e-05	0.0031	0.0031	0.0031	0.0030	0.0108	0.0028	0.0028	0.0100	0.0096	0.0108	0	0.0012	0	0	0	0	0	0.0009	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.804413	0.41939	D	4.065	0.97128	H	-1.96	0.85091	D	-10.22	0.98927	D	0.432	0.47115	0.321	0.87897	D	0.745	0.91309	D	9	0.009864569	0.00221	T	.	.	.	0.288	0.60691	.	.	0.940047827052	0.93942	0.21067484871761236	0.20983	0.944348631935	0.72353	0.748877644539	0.74281	T	0.302582	0.67497	T	-0.224696	0.17356	T	-0.0861413	0.64451	T	0.174116379245836	0.18855	T	0.136986	0.01082	T	0.88304216	0.89919	0.86820096	0.92742	0.88304216	0.89920	0.86820096	0.92742	-14.371	0.94200	D	.	.	0.862	0.80427	P	.	.	4.387091	0.67679	25.1	0.99379723107168205	0.61847	0.43636	0.27142	N	AEGBHCI	0.133415	0.25306	N	0.374417156005863	0.60038	4.188684	0.117625133664511	0.45451	2.80799	0.00152294535473683	0.08613	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	4.19	0.616	0.16789	3.804000	0.55272	.	.	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.999000	0.91618	0.0:0.0968:0.3256:0.5776	5.600	0.16631	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1531.98	70	chr19	56524941	.	T	C	1531.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.582;DP=1114;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=-1.682e+00;SOR=0.639	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,111,1230	20	0	1	0
chr19	56554760	56554760	C	T	exonic	ZFP28	.	nonsynonymous SNV	ZFP28:NM_020828:exon8:c.C1975T:p.H659Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.856	P	0.267	B	0.000	D	0.999	D	0.915	L	2.62	T	-1.011	T	0.025	T	0.269	1.183	9.811	3.91	2.182	-1.550	15.211	0.091	0.00621636278789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.05	0.48080	T	0.856	0.47190	P	0.267	0.39770	B	0.000172	0.48594	D	0.000000	0.980878	0.25080	N	-0.22	0.03977	N	2.62	0.12988	T	-3.97	0.73684	D	0.302	0.34120	-1.0112	0.26541	T	0.025	0.10733	T	10	0.17004338	0.31645	T	0.006216	0.16288	T	0.091	0.26358	0.329	0.31357	0.31411915649	0.31020	0.10611165945840229	0.10541	0.781083233994	0.65296	0.65424311161	0.60589	T	0.121966	0.44530	T	-0.270828	0.11665	T	-0.626802	0.10658	T	0.74490213394165	0.43004	D	0.126087	0.00984	T	0.38052243	0.59354	0.38866806	0.63705	0.38052243	0.59355	0.38866806	0.63705	-6.604	0.51084	T	.	.	0.679	0.72091	P	.	.	3.477999	0.48558	22.6	0.99156667503702389	0.53987	0.21605	0.21460	N	AEFBHCI	0.091304	0.18496	N	-0.236156843021036	0.31660	1.777493	-0.237807405424209	0.30194	1.697937	0.00314450442554377	0.09954	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.91	3.91	0.44383	-1.460000	0.02474	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.0:1.0:0.0:0.0	15.211	0.72910	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1095.98	68	chr19	56554760	.	C	T	1095.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.840e-01;DP=1197;ExcessHet=0.0000;FS=8.518;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.12;ReadPosRankSum=1.58;SOR=0.872	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr19	56816136	56816136	T	C	exonic	PEG3	.	nonsynonymous SNV	PEG3:NM_001369735:exon8:c.A1841G:p.Y614C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.001	B	0.001	B	0.475	N	.	.	1.775	L	4.2	T	-0.978	T	0.009	T	0.126	0.559	7.023	-7.92	-3.189	-2.568	0.924	0.019	0.00163101390998	.	0.000599042	0.0001	0	8.637e-05	0	0	0	0	0.0009	0.0001358	21	154602	rs574516590	5.885e-05	5.883e-05	2.451e-05	9.354e-05	0.0009	4.878e-05	4.498e-05	0.0007	0.0007	0	2.239e-05	0	2.519e-05	0	0	4.497e-06	6.626e-05	0.0009	3.939e-05	3.937e-05	3.855e-05	4.027e-05	0.0012	1.714e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.106	0.29688	T	0.186	0.29056	T	0.001	0.07471	B	0.001	0.04355	B	0.475245	0.04949	N	1.344690	.	.	.	1.2	0.30300	L	4.2	0.03149	T	-5.02	0.82511	D	0.134	0.13055	-0.9778	0.35503	T	0.009	0.03054	T	9	0.0148252845	0.00311	T	0.001631	0.02651	T	0.019	0.03383	0.439	0.49321	0.398872588132	0.39498	.	.	0.0542466573256	0.05997	0.204875051975	0.00612	T	0.452394	0.79274	T	-0.637428	0.00086	T	-0.765103	0.02932	T	0.0434442252654952	0.04319	T	0.686231	0.29475	T	0.06799706	0.14775	0.13428387	0.32180	0.06799706	0.14774	0.13428387	0.32180	-3.67	0.18876	T	.	.	0.066	0.02428	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	-1.334702	0.00410	0.008	0.57419032091287581	0.05765	0.03705	0.08987	N	AEFBHCI	0.106261	0.21206	N	-1.57336610226077	0.01403	0.06116809	-1.75765381970896	0.00905	0.04046489	0.999331067256246	0.39185	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.96	-7.92	0.01027	-1.727000	0.01959	.	.	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.107000	0.18608	0.2745:0.3221:0.1925:0.2109	0.924	0.01237	976	0.04745	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2817.98	38	chr19	56816136	.	T	C	2817.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.11;DP=970;ExcessHet=0.0000;FS=1.021;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.31;ReadPosRankSum=-1.000e+00;SOR=0.594	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,102,1496	20	0	1	0
chr19	56816629	56816629	C	T	exonic	PEG3	.	nonsynonymous SNV	PEG3:NM_001369735:exon8:c.G1348A:p.G450R	.	.	432	1087	2	1	0	4	0.00183655	.	.	2840312	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.03	D	0.417	B	0.048	B	0.444	N	.	.	0.895	L	3.52	T	-1.004	T	0.011	T	0.211	0.823	8.315	-0.584	0.014	0.252	5.934	0.033	0.00434452834836	0.0011	0.000399361	0.0013	0.0003	0.0007	0	0	0.0021	0.0011	0.0006	0.0011966	185	154602	rs55885735	0.0008	0.0008	0.0008	0.0009	0.0014	0.0008	0.0008	0.0007	0.0005	2.988e-05	0.0007	0.0217	2.519e-05	0	0.0014	0.0004	0.0020	0.0006	0.0011	0.0011	0.0011	0.0010	0.0010	0.0009	0.0009	0.0006	0.0005	7.223e-05	0	0.0010	0.0256	0	0	0.0034	0.0007	0.0024	0.0002	0.079	0.33753	T	0.102	0.38450	T	0.123	0.26785	B	0.008	0.13708	B	0.444264	0.12588	N	0.694155	.	.	.	0.205	0.09354	N	3.52	0.05710	T	-3.0	0.62343	D	0.126	0.12055	-1.0041	0.28725	T	0.011	0.04181	T	9	0.0053491294	0.00117	T	0.004345	0.10561	T	0.033	0.08068	.	.	0.370789594751	0.36692	.	.	0.0537603850345	0.05938	0.237546890974	0.02573	T	0.569133	0.85704	D	-0.560177	0.00253	T	-0.650237	0.08937	T	0.00877541672367101	0.00108	T	0.451655	0.12799	T	0.1298894	0.30324	0.18060389	0.40871	0.1298894	0.30324	0.18060389	0.40870	-4.667	0.34731	T	.	.	0.129	0.29004	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	0.784906	0.11551	8.146	0.93944221121227578	0.24001	0.28288	0.23513	N	AEFBCI	0.161537	0.28761	N	-0.900877733817179	0.10822	0.5190613	-0.985064841546338	0.10120	0.5077085	0.0104681830865035	0.12029	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.14	-0.584	0.11115	0.122000	0.15515	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	0.0:0.5327:0.288:0.1793	5.934	0.18394	976	0.04745	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1924.98	38	chr19	56816629	.	C	T	1924.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.40;DP=1026;ExcessHet=0.0000;FS=2.060;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=0.541;SOR=0.921	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1496	20	0	1	0
chr19	56817223	56817223	G	C	exonic	PEG3	.	nonsynonymous SNV	PEG3:NM_001369735:exon8:c.C754G:p.Q252E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.435	B	0.078	B	0.066	N	.	.	0.805	L	4.21	T	-0.903	T	0.008	T	0.155	0.393	6.136	4.25	2.659	1.762	14.970	0.036	0.00458229931987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.23721	T	0.965	0.02516	T	0.231	0.30614	B	0.054	0.25828	B	0.065941	0.21845	N	0.334454	.	.	.	1.735	0.44892	L	4.21	0.03092	T	-1.15	0.29525	N	0.097	0.07811	-0.9035	0.47617	T	0.008	0.02842	T	9	0.124740005	0.23696	T	0.004582	0.11315	T	0.036	0.09122	0.356	0.35734	0.614299490926	0.61118	.	.	0.0702066538001	0.07864	0.196558102965	0.00363	T	0.110223	0.42474	T	-0.2763	0.11065	T	-0.634662	0.10063	T	0.472689867019653	0.31630	T	0.718928	0.33194	T	0.11379457	0.26871	0.14240111	0.33878	0.11379457	0.26870	0.14240111	0.33877	-4.282	0.30162	T	.	.	0.082	0.11749	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.734755	0.22078	15.47	0.97758898969033559	0.35794	0.29434	0.23820	N	AEFBCI	0.206146	0.33243	N	-0.511897865742639	0.21694	1.153214	-0.515806926594098	0.21724	1.176545	0.0608152211272402	0.15210	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.25	4.25	0.49658	0.626000	0.24185	.	.	0.618000	0.50648	0.000000	0.06391	1.000000	0.68203	0.064000	0.16252	0.0:0.0:1.0:0.0	14.970	0.70878	976	0.04745	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3546.98	38	chr19	56817223	.	G	C	3546.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=1017;ExcessHet=0.0000;FS=1.450;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.99;ReadPosRankSum=0.864;SOR=0.607	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1496	20	0	1	0
chr19	57254468	57254468	G	A	exonic	ZNF805	.	nonsynonymous SNV	ZNF805:NM_001145078:exon3:c.G1250A:p.R417H	.	.	.	.	.	.	.	.	.	.	.	2220126	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.33	T	0.998	D	0.913	D	0.751	N	1.000	N	1.07	L	2.25	T	-1.044	T	0.067	T	0.411	2.915	15.71	4.62	2.552	0.006	8.242	0.155	0.0018099910988	0.0002	.	3.297e-05	0	0	0	0	5.998e-05	0	0	2.59e-05	4	154602	rs372060986	7.593e-05	7.593e-05	8.984e-05	6.188e-05	9.083e-05	6.423e-05	6.004e-05	7.597e-05	7.086e-05	5.974e-05	0	0	2.519e-05	1.872e-05	0	9.083e-05	4.967e-05	3.478e-05	5.914e-05	5.91e-05	5.138e-05	6.727e-05	0.0001	3.077e-05	2.21e-05	4.765e-05	3.339e-05	4.826e-05	0	0	0	0	0	0	0.0001	0	0	0.153	0.24372	T	0.234	0.24840	T	0.998	0.73220	D	0.913	0.64886	D	0.750758	0.06483	N	1.142240	0.999683	0.20694	N	0.105	0.08473	N	2.25	0.17761	T	-1.99	0.45949	N	0.176	0.24758	-1.0436	0.16236	T	0.067	0.27537	T	10	0.13781399	0.26214	T	0.00181	0.03115	T	0.155	0.40530	.	.	0.187035705434	0.18338	0.05148726759072695	0.05090	0.359438089845	0.37635	0.620201945305	0.55757	T	0.002764	0.02156	T	-0.354424	0.04455	T	-0.52118	0.20175	T	0.223428055644035	0.21634	T	0.0247975	0.00150	T	0.08670677	0.20163	0.07493356	0.16445	0.08670677	0.20162	0.07493356	0.16444	-4.541	0.34392	T	.	.	0.511	0.70872	A	.;.	.;.	3.420720	0.47492	22.5	0.99864476283632941	0.94276	0.18428	0.20256	N	AEFBCI	0.031971	0.03522	N	0.171016307606661	0.49810	3.177448	0.131596062715107	0.46174	2.86775	0.00191906458950274	0.09002	0.562547	0.31514	0	0.577304	0.33150	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	4.62	4.62	0.56946	0.036000	0.13706	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.0:0.1688:0.6569:0.1743	8.242	0.30827	940	0.13648	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3323.98	39	chr19	57254468	.	G	A	3323.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.900;DP=973;ExcessHet=0.0000;FS=0.574;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.26;ReadPosRankSum=0.833;SOR=0.782	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr19	57327923	57327923	G	A	exonic	ZNF543	.	nonsynonymous SNV	ZNF543:NM_213598:exon4:c.G461A:p.R154H,	.	.	423	1090	9	0	0	9	0.00411147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.0	B	0.0	B	.	.	1.000	N	-0.455	N	2.08	T	-0.985	T	0.017	T	0.042	-1.227	0.060	-5.73	-2.841	-3.501	7.132	0.024	0.00148122106756	7.7e-05	0.000599042	0.0007	9.684e-05	0.0005	0	0	0.0004	0	0.0033	0.0006727	104	154602	rs202039911	0.0007	0.0007	0.0006	0.0008	0.0034	0.0007	0.0006	0.0030	0.0029	0.0001	0.0004	0	2.519e-05	1.874e-05	0.0019	0.0006	0.0005	0.0034	0.0005	0.0005	0.0003	0.0006	0.0052	0.0004	0.0003	0.0036	0.0031	9.62e-05	0	0.0004	0	0.0002	0	0.0034	0.0005	0.0009	0.0052	1.0	0.00964	T	0.285	0.21343	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.08	0.20255	T	2.93	0.00151	N	0.031	0.00770	-0.9852	0.33784	T	0.017	0.06807	T	9	0.004888445	0.00104	T	0.001481	0.02267	T	0.024	0.04979	.	.	0.151104730317	0.14643	0.05587867145762792	0.05528	0.0408557262819	0.04386	0.1842032969	0.00139	T	0.017879	0.14511	T	-0.742619	0.00020	T	-0.842862	0.01056	T	0.00797481164980229	0.00094	T	0.0208979	0.00116	T	0.014864829	0.00111	0.036936432	0.03242	0.014864829	0.00111	0.036936432	0.03241	-2.794	0.08128	T	.	.	0.074	0.05188	B	.	.	-1.075837	0.00670	0.019	0.34231471189540569	0.02083	0.00703	0.02985	N	AEFBCI	0.012486	0.00138	N	-2.10197902207713	0.00127	0.005433091	-2.17313806259792	0.00129	0.005652439	0.693962162351813	0.22620	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.87	-5.73	0.02204	-4.036000	0.00349	.	.	-1.540000	0.00981	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.4387:0.0:0.4443:0.117	7.132	0.24682	538	0.73119	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1617.98	33	chr19	57327923	.	G	A	1617.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.568;DP=2126;ExcessHet=0.0000;FS=2.969;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=-3.600e-02;SOR=0.655	GT:AD:DP:GQ:PL	0/0:127,0:127:99:0,120,1800	20	0	1	0
chr19	57328552	57328552	G	T	exonic	ZNF543	.	nonsynonymous SNV	ZNF543:NM_213598:exon4:c.G1090T:p.V364L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.536	P	0.497	P	.	.	0.849	N	0.54	N	2.23	T	-1.034	T	0.045	T	0.135	3.397	17.47	3.14	1.750	.	13.512	0.139	0.00612646553446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.472e-06	5.472e-06	4.084e-06	6.875e-06	7.194e-06	2.35e-06	1.7e-06	3.09e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.002	0.79402	D	0.536	0.37827	P	0.497	0.47562	P	.	.	.	.	0.849142	0.28522	N	0.405	0.12330	N	2.23	0.18083	T	-1.21	0.30762	N	0.062	0.03392	-1.0344	0.19046	T	0.045	0.19275	T	9	0.13038427	0.24813	T	0.006126	0.16023	T	0.139	0.37390	0.534	0.64293	0.33110744837	0.32714	0.018405524630555507	0.01794	0.039798405049	0.04256	0.326663017273	0.14430	T	0.015764	0.13159	T	-0.255133	0.13476	T	-0.604257	0.12456	T	0.463809311389923	0.31304	T	0.172883	0.01650	T	0.21314487	0.43686	0.18536848	0.41645	0.21314487	0.43686	0.18536848	0.41644	-5.878	0.45247	T	.	.	0.217	0.44656	B	.	.	3.297845	0.45254	22.1	0.99350871939962926	0.60574	0.93247	0.57710	D	AEFGBCI	0.268026	0.38461	N	-0.225342208873437	0.32095	1.806519	-0.272509101133729	0.29008	1.621806	0.999992836240589	0.74766	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	3.14	3.14	0.35196	2.710000	0.46837	.	.	0.676000	0.76740	0.177000	0.24026	0.000000	0.08366	0.170000	0.20979	0.0:0.0:1.0:0.0	13.512	0.60973	541	0.72942	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3020.98	33	chr19	57328552	.	G	T	3020.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.750e-01;DP=1384;ExcessHet=0.0000;FS=3.724;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=0.476;SOR=0.498	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr19	57399635	57399635	G	A	exonic	ZNF548	.	nonsynonymous SNV	ZNF548:NM_152909:exon3:c.G1348A:p.E450K	.	.	413	1099	10	0	0	10	0.00452899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.469	P	0.056	B	.	.	1.000	N	-0.28	N	2.16	T	-1.016	T	0.017	T	0.201	2.286	13.60	1.22	0.533	-2.828	2.159	0.073	0.00265047817399	0.0017	0.000599042	0.0015	0.0007	0.0003	0	0.0002	0.0018	0.0011	0.0028	0.0013713	212	154602	rs199946339	0.0015	0.0015	0.0015	0.0016	0.0037	0.0015	0.0015	0.0033	0.0032	0.0003	0.0002	3.826e-05	0	0.0001	0.0028	0.0016	0.0015	0.0037	0.0009	0.0009	0.0009	0.0009	0.0025	0.0008	0.0007	0.0014	0.0011	0.0004	0	0.0007	0	0	0	0	0.0014	0.0009	0.0025	0.11	0.31532	T	0.103	0.38305	T	0.469	0.36524	P	0.056	0.26147	B	.	.	.	.	1	0.08975	N	0.2	0.09183	N	2.16	0.19166	T	-2.2	0.51968	N	0.143	0.17828	-1.0160	0.25013	T	0.017	0.06807	T	9	0.007980734	0.00181	T	0.00265	0.05406	T	0.073	0.21317	.	.	0.128392430309	0.12331	0.11648174416651406	0.11576	0.66540836955	0.59140	0.291519969702	0.09144	T	0.115586	0.43429	T	-0.600571	0.00145	T	-0.638506	0.09778	T	0.0247555813381665	0.01240	T	0.380262	0.09387	T	0.111696035	0.26394	0.14641881	0.34689	0.111696035	0.26393	0.14641881	0.34689	-5.515	0.42008	T	.	.	0.129	0.29228	B	.;.	.;.	2.321458	0.29724	18.21	0.99739446416378774	0.83409	0.03384	0.08490	N	AEFGBCI	0.061247	0.11695	N	-0.921735874098398	0.10335	0.4933596	-0.945540936247283	0.11027	0.5592307	0.173932436500725	0.17776	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	2.26	1.22	0.20300	-2.592000	0.00972	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.2913:0.0:0.4527:0.2561	2.159	0.03587	952	0.10565	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1155.98	34	chr19	57399635	.	G	A	1155.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=901;ExcessHet=0.0000;FS=10.423;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=0.589;SOR=0.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485	20	0	1	0
chr19	57444856	57444856	C	T	exonic	ZNF749	.	nonsynonymous SNV	ZNF749:NM_001321953:exon2:c.C1447T:p.H483Y	.	.	.	.	.	.	.	.	.	.	.	3351278	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.28	T	0.0	B	0.0	B	.	.	1.000	N	1.08	L	2.43	T	-0.997	T	0.028	T	0.048	-2.449	0.003	-3.26	-1.058	-1.056	7.962	0.013	0.000649139277566	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1253828045	4.788e-06	4.788e-06	4.084e-06	5.5e-06	2.519e-05	1.99e-06	1.28e-06	3.85e-06	1.44e-06	0	0	0	2.519e-05	0	0	3.597e-06	0	2.319e-05	3.286e-05	3.284e-05	3.855e-05	2.69e-05	9.652e-05	1.261e-05	7.98e-06	3.249e-05	1.915e-05	9.652e-05	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	0.075	0.42794	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.45	0.12780	N	2.43	0.15261	T	-1.04	0.27259	N	0.091	0.06990	-0.9970	0.30755	T	0.028	0.11971	T	9	0.048022777	0.04197	T	6.49E-4	0.00350	T	0.013	0.01715	0.297	0.26202	0.166414681773	0.16258	0.018526516939350132	0.01806	0.034493369384	0.03626	0.351287454367	0.18111	T	0.00771	0.07099	T	-0.546974	0.00304	T	-0.854339	0.00907	T	0.0186015500843346	0.00574	T	0.0108989	0.00060	T	0.027277723	0.01897	0.044384073	0.05739	0.027277723	0.01897	0.044384073	0.05739	-7.018	0.54165	T	.	.	0.116	0.23395	B	.	.	-0.892190	0.00939	0.036	0.26461858074085032	0.01268	0.00622	0.02746	N	AEFBI	.	.	.	-1.56647479125441	0.01441	0.06284198	-1.68783152722817	0.01192	0.05365433	0.0113582844793962	0.12171	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.78	-3.26	0.04750	-2.253000	0.01266	.	.	-1.705000	0.00752	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.726:0.0:0.274	7.962	0.29238	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2337.98	64	chr19	57444856	.	C	T	2337.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.096e+00;DP=1360;ExcessHet=0.0000;FS=3.992;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=0.504;SOR=0.481	GT:AD:DP:GQ:PL	0/1:105,96:201:99:2352,0,2713	20	0	1	0
chr19	57455498	57455498	G	A	exonic	VN1R1	.	nonsynonymous SNV	VN1R1:NM_020633:exon1:c.C989T:p.T330I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.704	P	0.394	B	.	.	1.000	N	1.5	L	2.98	T	-1.038	T	0.023	T	0.077	2.323	13.73	-5.31	-0.858	-0.133	4.032	0.020	0.00208085625024	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1014075344	1.368e-06	1.368e-06	1.361e-06	1.375e-06	8.994e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.994e-07	1.656e-05	0	1.316e-05	1.314e-05	1.287e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.052	0.39097	T	0.024	0.56640	D	0.704	0.41950	P	0.394	0.44277	B	.	.	.	.	1	0.08975	N	2.035	0.55589	M	2.98	0.09356	T	-3.5	0.68178	D	0.09	0.06854	-1.0382	0.17863	T	0.023	0.09878	T	9	0.12538457	0.23827	T	0.002081	0.03828	T	0.020	0.03691	0.491	0.57732	0.253726318573	0.24972	0.05290364602734712	0.05232	0.0796213563094	0.08961	0.557300209999	0.46887	T	0.016803	0.13819	T	-0.348452	0.04825	T	-0.738304	0.03963	T	0.684079885482788	0.39975	D	0.49475	0.15329	T	0.142719	0.32832	0.13766353	0.32898	0.142719	0.32831	0.13766353	0.32897	-5.671	0.43435	T	.	.	0.146	0.32251	B	.	.	0.101449	0.05029	1.578	0.99008085368726972	0.50293	0.01095	0.04025	N	AEFBI	0.033281	0.03917	N	-0.941760186516252	0.09878	0.4695298	-1.16842392523233	0.06444	0.3101841	2.30622176197677E-4	0.06048	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.07	-5.31	0.02519	-0.189000	0.09625	.	.	-0.170000	0.11276	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0803:0.3901:0.2843:0.2453	4.032	0.09199	981	0.03995	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	108.01	33	chr19	57455498	.	G	A	108.01	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.629e+00;DP=1499;ExcessHet=0.0000;FS=151.643;InbreedingCoeff=-0.0269;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.70;ReadPosRankSum=1.50;SOR=9.750	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	20	0	1	0
chr19	57456397	57456397	A	C	exonic	VN1R1	.	nonsynonymous SNV	VN1R1:NM_020633:exon1:c.T90G:p.N30K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.015	B	0.005	B	.	.	1.000	N	0	N	1.2	T	-0.996	T	0.027	T	0.061	-1.577	0.014	-5.76	-1.232	0.302	2.246	0.030	0.00305673777914	0.0002	0.000199681	5.789e-05	0	0	0	0	0.0001	0	0	7.12e-05	11	154602	rs202011839	8.075e-05	8.072e-05	9.258e-05	6.88e-05	9.717e-05	6.871e-05	6.423e-05	8.216e-05	7.636e-05	2.988e-05	2.237e-05	0	0	0	0	9.717e-05	0.0001	0	4.595e-05	4.593e-05	3.854e-05	5.369e-05	0.0001	2.107e-05	1.526e-05	4.765e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0	0	1.0	0.00964	T	1.0	0.01155	T	0.015	0.17086	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	1.2	0.37405	T	-0.09	0.08340	N	0.057	0.02861	-0.9958	0.31082	T	0.027	0.11441	T	9	0.031712174	0.01310	T	0.003057	0.06606	T	0.030	0.07022	0.261	0.20473	0.115124310173	0.11017	0.05474918498198184	0.05415	0.0941732856784	0.10632	0.559492468834	0.47196	T	0.002183	0.01585	T	-0.515683	0.00466	T	-0.741851	0.03813	T	0.0258605517278639	0.01387	T	0.312169	0.06100	T	0.039108053	0.05337	0.036647364	0.03155	0.039108053	0.05336	0.036647364	0.03154	-2.774	0.07946	T	.	.	0.093	0.14108	B	.	.	0.442321	0.08122	4.855	0.094203104805069479	0.00096	0.00971	0.03712	N	AEFBI	.	.	.	-1.69263061456464	0.00868	0.03756862	-1.75284994996098	0.00922	0.04127945	7.8935581188912E-4	0.07810	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	3.55	-5.76	0.02183	-0.434000	0.07009	.	.	-1.270000	0.01281	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1572:0.1333:0.1394:0.5701	2.246	0.03785	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	996.98	37	chr19	57456397	.	A	C	996.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.600e-01;DP=821;ExcessHet=0.0000;FS=4.112;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.73;ReadPosRankSum=0.642;SOR=0.633	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1124	20	0	1	0
chr19	57474334	57474334	C	A	exonic	ZNF772	.	nonsynonymous SNV	ZNF772:NM_001330613:exon3:c.G74T:p.G25V	.	.	428	1064	29	1	0	31	0.0143585	.	.	2815433	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.3	T	0.015	B	0.006	B	.	.	1.000	N	0.935	L	3.41	T	-0.925	T	0.007	T	0.082	-0.651	1.137	-7.18	-0.931	-0.238	0.653	0.014	.	0.0065	0.00179712	0.0052	0.0012	0.0042	0	0.0005	0.0080	0.0121	0.0016	0.0051552	797	154602	rs149559142	0.0056	0.0056	0.0056	0.0057	0.0479	0.0055	0.0055	0.0432	0.0414	0.0016	0.0052	0.0325	0	0.0002	0.0479	0.0056	0.0078	0.0018	0.0049	0.0049	0.0051	0.0047	0.0066	0.0046	0.0045	0.0061	0.0059	0.0013	0	0.0061	0.0314	0	0.0004	0.0442	0.0066	0.0090	0.0017	0.082	0.42783	T	0.1	0.43913	T	0.015	0.17086	B	0.006	0.12133	B	.	.	.	.	0.999999	0.08975	N	0.91	0.23283	L	3.4	0.06445	T	-2.55	0.75297	D	0.075	0.07535	-0.9246	0.44915	T	0.007	0.02282	T	9	0.003584683	0.00065	T	.	.	.	0.014	0.01968	.	.	0.242825505644	0.23883	0.06286079249604214	0.06225	0.265364884536	0.29093	0.231391102076	0.02073	T	0.082708	0.36889	T	-0.692122	0.00041	T	-0.762956	0.03008	T	0.00628874385665996	0.00070	T	0.00682563	0.00163	T	0.053275492	0.10058	0.0621461	0.12114	0.053275492	0.10058	0.0621461	0.12114	-4.803	0.41388	T	.	.	0.086	0.16538	B	.;.;.	.;.;.	-0.622206	0.01512	0.096	0.38261841953168846	0.02570	0.08835	0.14704	N	AEFBCI	0.082553	0.16716	N	-1.8198645664141	0.00498	0.02145112	-1.91443553567497	0.00458	0.02028973	0.999532729199548	0.40238	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.99	-7.18	0.01354	-1.430000	0.02541	.	.	-1.832000	0.00589	0.000000	0.06391	.	.	0.000000	0.00833	0.3455:0.2572:0.1076:0.2898	0.653	0.00777	982	0.03397	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1305.98	38	chr19	57474334	.	C	A	1305.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.267;DP=876;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=0.582;SOR=0.660	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1620	20	0	1	0
chr19	57487972	57487972	G	A	exonic	ZNF419	.	nonsynonymous SNV	ZNF419:NM_001098491:exon1:c.G22A:p.D8N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.993	D	0.956	D	.	.	1.000	N	0.75	N	7.23	T	-0.982	T	0.025	T	0.093	1.694	11.62	0.876	0.371	-0.061	6.158	0.007	0.00171874204057	.	.	4.245e-05	0	0	0.0004	0	1.545e-05	0.0011	0	3.23e-05	5	154602	rs768241137	2.669e-05	2.668e-05	1.906e-05	3.439e-05	0.0004	1.998e-05	1.754e-05	0.0002	0.0002	0	0	0	0.0004	0	0	2.159e-05	1.657e-05	0	1.971e-05	1.97e-05	2.569e-05	1.345e-05	0.0004	5.24e-06	2.45e-06	6.83e-05	2.858e-05	0	0	0	0	0.0004	0	0	1.469e-05	0	0	0.046	0.46513	D	0.141	0.45110	T	0.403	0.65571	B	0.12	0.69739	B	.	.	.	.	1	0.08975	N	1.365	0.34158	L	3.28	0.06523	T	-1.19	0.63669	N	0.122	0.12341	-0.9818	0.34585	T	0.025	0.10688	T	9	0.04787025	0.04162	T	0.001719	0.02882	T	0.007	0.00512	0.366	0.37361	0.168933306366	0.16529	0.07149273854729853	0.07086	0.0225929202177	0.02277	0.545993447304	0.45291	T	0.004905	0.04322	T	-0.527588	0.00397	T	-0.695296	0.06087	T	0.0243846718572106	0.01193	T	0.113289	0.02867	T	0.044084292	0.06984	0.049520478	0.07586	0.044084292	0.06984	0.049520478	0.07585	-4.381	0.39556	T	.	.	0.223	0.49673	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.535188	0.19691	14.39	0.97365014646030235	0.33593	0.01411	0.04770	N	ALL	0.026167	0.01917	N	-0.884665221424562	0.11207	0.5395738	-0.997720733036265	0.09835	0.4917156	0.999977839089699	0.50053	0.441713	0.08003	0	0.52208	0.09955	0	0.391439	0.06340	0	0.581474	0.35302	0	.	.	2.0	0.876	0.18274	-0.140000	0.10323	.	.	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.3221:0.6779:0.0	6.158	0.19566	982	0.03397	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1111.98	43	chr19	57487972	.	G	A	1111.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.882;DP=852;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=-1.674e+00;SOR=0.627	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr19	57493645	57493645	G	A	exonic	ZNF419	.	nonsynonymous SNV	ZNF419:NM_001098495:exon3:c.G953A:p.R318H	.	.	424	1089	7	2	0	11	0.00502513	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.992	D	.	.	1.000	N	2.47	M	1.78	T	-1.025	T	0.096	T	0.262	2.448	14.15	-0.582	-0.073	0.874	2.945	0.026	.	0.007	0.00179712	0.0069	0.0018	0.0010	0.0001	0.0157	0.0103	0.0033	0.0010	0.0067011	1036	154602	rs190991901	0.0081	0.0081	0.0084	0.0079	0.0095	0.0080	0.0080	0.0093	0.0092	0.0015	0.0013	0.0005	7.557e-05	0.0137	0.0010	0.0095	0.0066	0.0012	0.0057	0.0057	0.0058	0.0056	0.0091	0.0054	0.0053	0.0085	0.0082	0.0013	0	0.0028	0.0009	0.0004	0.0134	0	0.0091	0.0028	0.0006	0.002	0.78490	D	0.024	0.79402	D	1.0	0.90584	D	0.946	0.70672	D	.	.	.	.	1	0.08975	N	1.905	0.50856	L	1.78	0.25678	T	-3.87	0.75139	D	0.309	0.42050	-1.0253	0.21985	T	0.096	0.36029	T	9	0.005657226	0.00126	T	.	.	.	0.026	0.05648	.	.	0.215109475489	0.21095	0.02654891569215712	0.02604	0.177019155059	0.19917	0.498757123947	0.38654	T	0.072844	0.34553	T	-0.517906	0.00452	T	-0.508893	0.21430	T	0.0443826195562264	0.04490	T	0.539146	0.22875	T	0.23445682	0.46267	0.27970666	0.53941	0.23445682	0.46267	0.27970666	0.53940	-10.514	0.76927	D	.	.	0.658	0.71961	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.857490	0.37744	20.6	0.99745433717500886	0.83852	0.06457	0.12464	N	AEFGBI	0.046647	0.07769	N	-0.31816867139106	0.28459	1.569819	-0.645093629492661	0.18340	0.9793189	0.0278239713266579	0.13796	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.8	-0.582	0.11122	-0.058000	0.11707	.	.	0.467000	0.21759	0.000000	0.06391	0.000000	0.08366	0.228000	0.22680	0.2787:0.0:0.5051:0.2162	2.945	0.05487	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;.;.;.;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	ZNF544	Skin_Not_Sun_Exposed_Suprapubic	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1981.98	42	chr19	57493645	.	G	A	1981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=1082;ExcessHet=0.0000;FS=1.216;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.57;MQRankSum=-2.514e+00;QD=12.23;ReadPosRankSum=-1.020e+00;SOR=0.797	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr19	57493824	57493824	G	-	exonic	ZNF419	.	frameshift deletion	ZNF419:NM_001098495:exon3:c.1132delG:p.G378Efs*164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.264e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs773430746	8.893e-06	8.893e-06	8.168e-06	9.626e-06	1.169e-05	4.96e-06	3.82e-06	6.52e-06	5.03e-06	0	0	0	0	0	0	1.169e-05	0	0	6.569e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2177.94	42	chr19	57493823	.	TG	T	2177.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.962;DP=985;ExcessHet=0.0000;FS=2.096;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.23;ReadPosRankSum=2.07;SOR=0.523	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr19	57547708	57547708	G	A	exonic	ZNF550	.	nonsynonymous SNV	ZNF550:NM_001277090:exon4:c.C536T:p.A179V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.003	B	0.004	B	.	.	1.000	N	0	N	1.93	T	-1.001	T	0.025	T	0.227	0.722	7.839	-4.0	-0.448	-1.182	5.674	0.006	0.000934611661837	.	.	0.0001	0	0	0.0018	0	1.498e-05	0.0011	0	0.0001358	21	154602	rs781390222	8.345e-05	8.345e-05	8.031e-05	8.663e-05	0.0020	7.136e-05	6.684e-05	0.0016	0.0015	0	0	0	0.0020	0	0	2.248e-05	0.0003	1.159e-05	6.572e-05	6.567e-05	3.854e-05	9.417e-05	0.0017	3.517e-05	2.616e-05	0.0009	0.0007	0	0	0	0	0.0017	0	0	1.47e-05	0	0	0.127	0.27080	T	0.344	0.29249	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.15	0.29295	L	1.93	0.22881	T	-1.4	0.34596	N	0.15	0.21710	-1.0012	0.29574	T	0.025	0.10821	T	9	0.007910967	0.00180	T	9.35E-4	0.00911	T	0.006	0.00375	.	.	0.178374595973	0.17440	0.039917822178102275	0.03937	0.0724097737162	0.08119	0.212645739317	0.00928	T	0.01309	0.11383	T	-0.592493	0.00162	T	-0.630328	0.10391	T	0.00325044770432029	0.00034	T	0.20228	0.03406	T	0.036280002	0.04434	0.061364718	0.11839	0.036280002	0.04433	0.061364718	0.11838	-3.733	0.19806	T	.	.	0.108	0.21428	B	.;.;.	.;.;.	0.209569	0.05935	2.373	0.76468481203426797	0.11480	0.03155	0.08121	N	AEFGBI	0.037730	0.05233	N	-1.44056503392359	0.02292	0.1010413	-1.50287175924018	0.02322	0.1066132	0.139511607686058	0.17246	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.58	-4.0	0.03787	-0.921000	0.04117	.	.	-0.227000	0.07798	0.000000	0.06391	0.000000	0.08366	0.093000	0.17941	0.0:0.2102:0.4541:0.3357	5.674	0.17010	988	0.01987	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3565.98	39	chr19	57547708	.	G	A	3565.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.511e+00;DP=1120;ExcessHet=0.0000;FS=3.079;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=1.39;SOR=0.792	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,108,1620	20	0	1	0
chr19	57572870	57572870	C	G	exonic	ZNF416	.	nonsynonymous SNV	ZNF416:NM_001353405:exon3:c.G818C:p.C273S	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.325	B	0.14	B	.	.	1.000	N	-0.775	N	2.31	T	-0.959	T	0.016	T	0.226	3.542	18.07	-3.82	-0.481	-1.866	10.534	0.045	0.00268426695289	.	0.000199681	5.766e-05	0	0.0003	0	0	0	0	0.0002	9.7e-05	15	154602	rs529743529	3.694e-05	3.694e-05	2.995e-05	4.401e-05	0.0007	2.894e-05	2.592e-05	0.0005	0.0004	0	0.0007	0	0	0	0	4.497e-06	1.656e-05	0.0002	3.293e-05	3.285e-05	5.153e-05	1.348e-05	0.0004	1.263e-05	8e-06	7.318e-05	3.039e-05	0	0	0.0002	0	0	0	0	0	0	0.0004	0.168	0.23007	T	0.126	0.35205	T	0.325	0.33132	B	0.14	0.33554	B	.	.	.	.	1	0.08975	N	-0.575	0.02294	N	2.31	0.16794	T	0.83	0.01787	N	0.101	0.08366	-0.9590	0.39368	T	0.016	0.06473	T	9	0.022625625	0.00570	T	0.002684	0.05492	T	0.045	0.12272	0.596	0.72617	0.0716867268079	0.06686	0.0323138976205663	0.03179	0.472728957229	0.46508	0.341736406088	0.16698	T	0.023465	0.17908	T	-0.560514	0.00252	T	-0.681006	0.06922	T	0.050805456889717	0.05640	T	0.119588	0.00922	T	0.027959136	0.02064	0.08357865	0.19163	0.027959136	0.02063	0.08357865	0.19163	-4.716	0.33598	T	.	.	0.314	0.54064	B	.	.	0.637028	0.10056	6.805	0.97267610869670074	0.33121	0.03717	0.09005	N	AEFDBHCI	0.040856	0.06133	N	-1.06031991385095	0.07387	0.3429775	-1.09925283904658	0.07715	0.3763924	0.115653832677393	0.16760	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.74	-3.82	0.04000	-3.495000	0.00503	.	.	0.544000	0.25403	0.000000	0.06391	0.000000	0.08366	0.426000	0.27362	0.0:0.2599:0.0:0.7401	10.534	0.44178	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1612.98	35	chr19	57572870	.	C	G	1612.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.962e+00;DP=1046;ExcessHet=0.0000;FS=1.340;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=-1.366e+00;SOR=0.855	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1270	20	0	1	0
chr19	57573220	57573220	G	C	exonic	ZNF416	.	nonsynonymous SNV	ZNF416:NM_001353405:exon3:c.C468G:p.H156Q	.	.	426	1064	32	0	0	32	0.0148148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.035	B	0.004	B	.	.	1.000	N	0.935	L	3.24	T	-0.994	T	0.008	T	0.117	-0.152	3.259	-7.09	-3.127	-1.685	4.009	0.007	.	0.0058	0.00439297	0.0060	0.0012	0.0021	0	0.0095	0.0073	0.0066	0.0085	0.0058667	907	154602	rs145794172	0.0074	0.0074	0.0073	0.0074	0.0106	0.0073	0.0072	0.0085	0.0079	0.0007	0.0035	0.0028	2.519e-05	0.0091	0.0106	0.0078	0.0090	0.0086	0.0059	0.0059	0.0059	0.0059	0.0083	0.0055	0.0054	0.0075	0.0073	0.0013	0.0055	0.0076	0.0012	0	0.0097	0.0068	0.0081	0.0090	0.0083	0.165	0.23271	T	0.132	0.34477	T	0.035	0.20614	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.785	0.19527	N	3.24	0.06845	T	-4.87	0.81269	D	0.061	0.03283	-0.9943	0.31485	T	0.008	0.02968	T	9	0.004246503	0.00085	T	.	.	.	0.007	0.00512	0.294	0.25720	0.0482279557977	0.04254	0.01641161655061311	0.01597	0.237101060126	0.26249	0.245162144303	0.03276	T	0.219429	0.58244	T	-0.685344	0.00045	T	-0.74783	0.03571	T	0.0223640182416722	0.00950	T	0.0281972	0.00174	T	0.06999825	0.15382	0.13588358	0.32522	0.06999825	0.15382	0.13588358	0.32521	-2.779	0.07991	T	.	.	0.108	0.20508	B	.	.	-1.202347	0.00528	0.012	0.34883764537529655	0.02159	0.02714	0.07370	N	AEFBHCI	0.028361	0.02483	N	-2.06612509115374	0.00152	0.00650423	-2.18827142712601	0.00119	0.00522519	0.999545044357143	0.40300	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.55	-7.09	0.01399	-2.087000	0.01447	.	.	-1.485000	0.01053	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1783:0.2491:0.4888:0.0837	4.009	0.09103	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2975.98	35	chr19	57573220	.	G	C	2975.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.820e-01;DP=1196;ExcessHet=0.0000;FS=4.194;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=0.136;SOR=0.492	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1270	20	0	1	0
chr19	57606544	57606544	G	A	exonic	ZNF530	.	nonsynonymous SNV	ZNF530:NM_020880:exon3:c.G1019A:p.R340H	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.003	B	0.005	B	.	.	1.000	N	1.93	M	1.8	T	-0.987	T	0.048	T	0.079	1.567	11.20	-4.54	-0.815	-8.002	5.110	0.016	0.00172770887513	.	.	9.884e-05	0	0	0	0	0.0001	0	0.0003	7.76e-05	12	154602	rs758522483	3.42e-05	3.42e-05	3.131e-05	3.713e-05	0.0002	2.631e-05	2.375e-05	0.0001	9.45e-05	2.987e-05	8.944e-05	0	0	0	0	2.338e-05	4.967e-05	0.0002	6.622e-06	6.591e-06	0	1.356e-05	1.476e-05	0	0	.	.	0	0	0	0	0	0	0	1.476e-05	0	0	0.176	0.22312	T	0.255	0.23365	T	0.003	0.11197	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	1.99	0.53851	M	1.8	0.25344	T	-1.51	0.36787	N	0.049	0.02088	-0.9866	0.33445	T	0.048	0.20553	T	9	0.030672103	0.01196	T	0.001728	0.02908	T	0.016	0.02506	0.385	0.40460	0.0297737177859	0.01360	0.025710590198168768	0.02522	0.161068039846	0.18175	0.317789971828	0.13085	T	0.006092	0.05528	T	-0.517854	0.00453	T	-0.74497	0.03685	T	0.0917412415146828	0.11423	T	.	.	.	0.021261284	0.00719	0.0313462	0.01710	0.021261284	0.00719	0.0313462	0.01710	-8.103	0.61771	D	.	.	0.432	0.61300	A	.	.	0.036782	0.04542	1.233	0.97916217303657871	0.36850	0.00857	0.03413	N	AEFBHCI	0.017364	0.00450	N	-1.660430637299	0.00992	0.04299816	-1.82844340792084	0.00672	0.02990758	0.0910746220704158	0.16126	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	2.27	-4.54	0.03207	-8.859000	0.00021	.	.	-0.715000	0.03906	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5279:0.1485:0.3235:0.0	5.110	0.14140	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3049.98	74	chr19	57606544	.	G	A	3049.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.95;DP=1751;ExcessHet=0.0000;FS=3.099;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.39;ReadPosRankSum=-6.440e-01;SOR=0.503	GT:AD:DP:GQ:PL	0/0:86,0:86:99:0,120,1800	20	0	1	0
chr19	57702381	57702381	C	A	exonic	ZNF154	.	stopgain	ZNF154:NM_001085384:exon3:c.G568T:p.E190X,	.	.	419	1100	2	1	0	4	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.006	16.03	0.444	0.193	-3.967	2.249	.	.	.	0.00399361	0.0012	0	0	0	0	2.997e-05	0	0.0090	0.0011255	174	154602	rs544751825	0.0005	0.0005	0.0003	0.0007	0.0075	0.0005	0.0004	0.0070	0.0068	0	2.238e-05	0	0	0	0.0005	9.902e-06	0.0008	0.0075	0.0003	0.0003	0.0002	0.0006	0.0106	0.0003	0.0002	0.0083	0.0074	0	0	0	0	0	0	0	2.94e-05	0	0.0106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.033	0.00882	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.00520038	0.50936	T	0.225868	0.84469	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.835431	0.93756	33	0.99234664489689184	0.56342	0.03468	0.08623	N	AEFDGBI	0.033577	0.04009	N	-0.0838766128490845	0.38098	2.226296	-0.482090163027226	0.22646	1.231126	4.03404832875359E-4	0.06860	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	2.6	0.444	0.15803	-3.811000	0.00405	.	.	0.526000	0.24426	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.2476:0.458:0.0:0.2944	2.249	0.03793	976	0.04745	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2987.98	42	chr19	57702381	.	C	A	2987.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.350e-01;DP=1990;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.16;ReadPosRankSum=0.990;SOR=0.666	GT:AD:DP:GQ:PL	0/0:187,0:187:99:0,120,1800	20	0	1	0
chr19	57702458	57702458	C	T	exonic	ZNF154	.	nonsynonymous SNV	ZNF154:NM_001085384:exon3:c.G491A:p.S164N,	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	.	.	1.000	N	0.26	N	3.71	T	-0.920	T	0.003	T	0.003	2.629	14.75	-0.407	0.011	-2.386	3.104	0.040	.	0.0073	0.00439297	0.0066	0.0013	0.0025	0.0122	0.0150	0.0079	0.0066	0.0010	0.0064165	992	154602	rs61738876	0.0091	0.0091	0.0093	0.0088	0.0104	0.0089	0.0089	0.0102	0.0101	0.0015	0.0027	0.0010	0.0091	0.0124	0.0002	0.0104	0.0063	0.0013	0.0065	0.0065	0.0065	0.0065	0.0114	0.0062	0.0060	0.0092	0.0090	0.0014	0	0.0026	0.0012	0.0114	0.0136	0	0.0099	0.0038	0.0014	0.14	0.25664	T	0.204	0.27235	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.45	0.12780	N	3.71	0.04046	T	-0.75	0.21003	N	0.09	0.06854	-0.9203	0.45513	T	0.003	0.00994	T	9	0.004165828	0.00082	T	.	.	.	0.040	0.10527	.	.	0.0986583533028	0.09354	0.03319861772966154	0.03267	0.086980305371	0.09809	0.242131650448	0.02985	T	0.005791	0.05238	T	-0.787549	0.00010	T	-0.891712	0.00563	T	0.00463790540218513	0.00050	T	.	.	.	0.14616975	0.33473	0.10676776	0.25691	0.14616975	0.33473	0.10676776	0.25690	-5.569	0.42508	T	.	.	0.158	0.34970	B	.	.	-0.437667	0.02075	0.192	0.86377061022671786	0.16495	0.01518	0.05011	N	AEFBI	0.025335	0.01718	N	-1.2493264316387	0.04309	0.194205	-1.23585155959919	0.05344	0.254384	1.03873629729759E-4	0.05123	0.562547	0.31514	0	0.653731	0.59785	0	0.575934	0.27490	0	0.491896	0.07777	0	.	.	3.03	-0.407	0.11768	-5.338000	0.00155	.	.	0.526000	0.24426	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.0:0.4907:0.233:0.2763	3.104	0.05954	976	0.04745	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	rs61738876	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2279.98	42	chr19	57702458	.	C	T	2279.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=1228;ExcessHet=0.0000;FS=1.106;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=-1.630e-01;SOR=0.795	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr19	57704871	57704871	C	T	exonic	ZNF154	.	nonsynonymous SNV	ZNF154:NM_001085384:exon2:c.G142A:p.A48T,	.	.	.	.	.	.	.	.	.	.	.	2374061	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.954	P	0.587	P	.	.	1.000	N	1.37	L	4.68	T	-0.897	T	0.009	T	0.148	2.813	15.37	2.95	1.966	-0.219	9.568	0.078	0.00454829158338	.	0.000199681	4.95e-05	0	0	0	0	9.006e-05	0	0	5.17e-05	8	154602	rs182712034	5.204e-05	5.267e-05	5.178e-05	5.23e-05	0.0002	4.262e-05	3.891e-05	4.44e-05	4.03e-05	0	2.259e-05	0.0001	0	3.746e-05	0.0002	5.578e-05	0.0001	0	5.913e-05	5.906e-05	8.998e-05	2.687e-05	0.0001	3.077e-05	2.21e-05	5.844e-05	4.24e-05	0	0	6.54e-05	0	0	0	0	0.0001	0	0	0.181	0.21884	T	0.114	0.36765	T	0.954	0.54400	P	0.587	0.50368	P	.	.	.	.	1	0.08975	N	1.535	0.38868	L	4.68	0.01715	T	-2.03	0.46673	N	0.118	0.10769	-0.8973	0.48264	T	0.009	0.03271	T	9	0.078614235	0.12549	T	0.004548	0.11220	T	0.078	0.22779	.	.	0.274366138417	0.27033	0.04498097710612342	0.04442	0.306553085064	0.32958	0.266515552998	0.05692	T	0.005504	0.04952	T	-0.451294	0.01110	T	-0.63772	0.09835	T	0.156470652813443	0.17607	T	.	.	.	0.16583449	0.36880	0.19398412	0.42996	0.16583449	0.36879	0.19398412	0.42995	-6.282	0.48579	T	.	.	0.142	0.31279	B	.	.	2.406978	0.30930	18.59	0.96946143507819715	0.31719	0.06795	0.12819	N	AEFBI	0.045073	0.07329	N	-0.221788129267656	0.32240	1.816146	-0.355646841131163	0.26335	1.453926	0.00311623471443494	0.09935	0.67177	0.52595	0	0.601575	0.49859	0	0.702456	0.68683	0	0.528226	0.09195	0	.	.	2.95	2.95	0.33285	-0.241000	0.08958	.	.	0.454000	0.21428	0.000000	0.06391	0.000000	0.08366	0.989000	0.64315	0.0:1.0:0.0:0.0	9.568	0.38574	970	0.06235	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2448.98	33	chr19	57704871	.	C	T	2448.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.306e+00;DP=947;ExcessHet=0.0000;FS=0.476;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.87;ReadPosRankSum=1.05;SOR=0.646	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1403	20	0	1	0
chr19	57808794	57808794	G	A	exonic	ZNF552	.	nonsynonymous SNV	ZNF552:NM_024762:exon3:c.C470T:p.A157V,	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-0.29	N	3.71	T	-0.917	T	0.005	T	0.037	-1.871	0.008	-0.803	0.022	-0.431	2.784	0.018	0.00090596807728	.	0.000399361	8.236e-05	0.0002	8.637e-05	0	0	8.99e-05	0	6.056e-05	0.0001537	4	26028	rs576029108	8.421e-05	0.0002	7.084e-05	9.771e-05	0.0019	7.209e-05	6.755e-05	0.0011	0.0008	0.0004	4.473e-05	0	0.0001	3.75e-05	0.0019	5.58e-05	0.0002	0.0001	0.0003	0.0020	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0003	0.0006	0	0.0003	0	0	9.61e-05	0.0034	0.0002	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.17	0.04298	N	3.71	0.04046	T	2.84	0.00165	N	0.044	0.01658	-0.9175	0.45891	T	0.005	0.01688	T	9	0.017190516	0.00366	T	9.06E-4	0.00844	T	0.018	0.03083	.	.	0.248417906384	0.24464	0.031522407414787665	0.03101	0.557334318704	0.52354	0.230389162898	0.01997	T	0.008331	0.07654	T	-0.405658	0.02125	T	-0.820476	0.01443	T	0.00920337763139408	0.00116	T	0.186781	0.01946	T	0.019427126	0.00472	0.031151643	0.01664	0.019427126	0.00472	0.031151643	0.01664	0.26	0.00269	T	.	.	0.110	0.21239	B	.	.	-0.155911	0.03322	0.580	0.18782001308032792	0.00605	0.00096	0.00628	N	AEFBI	0.009771	0.00061	N	-1.78118286330107	0.00593	0.02554289	-1.7870117084999	0.00802	0.03578075	0.0912039099692399	0.16128	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	1.96	-0.803	0.10336	0.125000	0.15577	.	.	-0.227000	0.07798	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.6156:0.0:0.163:0.2214	2.784	0.05039	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4359.98	34	chr19	57808794	.	G	A	4359.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.810;DP=1142;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.29;MQRankSum=-4.701e+00;QD=9.91;ReadPosRankSum=-1.376e+00;SOR=0.657	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1268	20	0	1	0
chr19	57909620	57909620	C	T	exonic	ZNF417	.	nonsynonymous SNV	ZNF417:NM_001297734:exon3:c.G655A:p.A219T	.	.	444	1075	3	0	0	3	0.0013934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.421	B	0.037	B	.	.	1.000	N	0.755	N	1.62	T	-1.088	T	0.031	T	0.076	0.493	6.672	-4.84	-2.348	-2.863	0.487	0.023	0.000697404789858	.	.	0.0001	0	0	0	0	0.0003	0	0	3.84e-05	1	26028	rs201920834	9.67e-05	9.645e-05	0.0001	9.24e-05	0.0002	8.331e-05	7.869e-05	7.701e-05	7.188e-05	3.017e-05	8.99e-05	0.0010	0	0	0.0002	9.193e-05	8.301e-05	1.162e-05	8.27e-05	7.911e-05	0.0001	5.678e-05	0.0001	4.701e-05	3.673e-05	8.035e-05	6.086e-05	0	0	0	0.0006	0	0	0	0.0001	0	0	0.229	0.18371	T	0.246	0.23984	T	0.421	0.35387	B	0.037	0.23121	B	.	.	.	.	1	0.08975	N	0.735	0.18861	N	1.62	0.28189	T	-1.31	0.32791	N	0.033	0.01740	-1.0876	0.05943	T	0.031	0.13374	T	9	0.025467783	0.00740	T	6.97E-4	0.00435	T	0.023	0.04649	.	.	0.282575091529	0.27877	0.0034047918738117147	0.00318	.	.	0.19031265378	0.00231	T	0.005445	0.16988	T	-0.3513	0.04646	T	-0.742394	0.03790	T	0.016194158638633	0.00394	T	0.036263	0.00262	T	0.015289697	0.00131	0.045671638	0.06197	0.015289697	0.00131	0.045671638	0.06196	-4.43	0.29961	T	.	.	0.071	0.04277	B	.;.	.;.	-0.664955	0.01404	0.082	0.69765217831698656	0.09077	0.00335	0.01744	N	AEFGBI	0.028117	0.02418	N	-1.36917056272296	0.02931	0.1301767	-1.52911053336963	0.02123	0.09717009	0.141770680213418	0.17286	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	2.42	-4.84	0.02920	-1.709000	0.01990	.	.	0.448000	0.21234	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.3868:0.1752:0.1285:0.3095	0.487	0.00520	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2196.98	33	chr19	57909620	.	C	T	2196.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.559e+00;DP=1185;ExcessHet=0.0000;FS=82.623;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=34.02;MQRankSum=2.81;QD=19.44;ReadPosRankSum=-6.660e-01;SOR=0.872	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	20	0	1	0
chr19	57916383	57916383	G	C	exonic	ZNF417	.	nonsynonymous SNV	ZNF417:NM_001297734:exon1:c.C29G:p.T10S	.	.	424	1091	7	0	0	7	0.00319781	.	.	705299	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.79	T	0.0	B	0.0	B	.	.	1.000	N	-0.24	N	3.41	T	-0.914	T	0.003	T	0.051	-0.923	0.392	-0.389	-0.008	-0.040	3.18	0.012	.	0.0070	0.00479233	0.0072	0.0020	0.0017	0.0177	0.0155	0.0080	0.0089	0.0019	0.007115	1100	154602	rs146519620	0.0089	0.0089	0.0092	0.0087	0.0110	0.0088	0.0087	0.0102	0.0098	0.0018	0.0017	0.0009	0.0110	0.0125	0.0019	0.0100	0.0072	0.0027	0.0068	0.0068	0.0067	0.0069	0.0166	0.0065	0.0063	0.0138	0.0127	0.0020	0	0.0020	0.0012	0.0166	0.0134	0	0.0096	0.0047	0.0056	0.637	0.05046	T	0.932	0.14865	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.19694	N	-1.33	0.00679	N	3.41	0.05574	T	0.29	0.04161	N	0.141	0.14054	-0.9145	0.46285	T	0.003	0.01092	T	9	0.0040403306	0.00079	T	.	.	.	0.012	0.01476	0.163	0.06730	0.221734844693	0.21761	0.04225834719548614	0.04170	.	.	0.465177088976	0.34019	T	0.001322	0.02166	T	-0.703322	0.00035	T	-0.767454	0.02853	T	0.00642501536434136	0.00071	T	0.00833667	0.00038	T	0.059754975	0.12180	0.05152348	0.08307	0.059754975	0.12180	0.05152348	0.08307	-2.413	0.05213	T	.	.	0.081	0.20313	B	.;.	.;.	0.411567	0.07823	4.518	0.22904005190390489	0.00943	0.01326	0.04577	N	ALL	0.041021	0.06181	N	-1.38757939138697	0.02753	0.1220436	-1.4236380656846	0.03017	0.1399422	0.999856282716645	0.44174	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	1.93	-0.389	0.11835	1.056000	0.30089	.	.	0.597000	0.34315	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.181:0.2821:0.5369:0.0	3.18	0.06188	982	0.03397	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2397.98	33	chr19	57916383	.	G	C	2397.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.040e-01;DP=891;ExcessHet=0.0000;FS=0.587;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.87;MQRankSum=5.58;QD=14.89;ReadPosRankSum=-2.580e-01;SOR=0.639	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1620	20	0	1	0
chr19	57926277	57926278	GT	-	exonic	ZNF418	.	stopgain	ZNF418:NM_001317030:exon2:c.1648_1649del:p.T550*	.	.	427	1074	15	0	6	21	0.00693481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0090	0.0011	0.0101	0	0.0082	0.0130	0.0044	0.0019	0.0007684	20	26028	rs750922476	0.0017	0.0076	0.0017	0.0018	0.0040	0.0017	0.0017	0.0028	0.0023	0.0004	0.0008	0.0059	0	0.0028	0.0040	0.0018	0.0023	0.0001	0.0061	0.0089	0.0064	0.0057	0.0095	0.0057	0.0056	0.0089	0.0086	0.0011	0.0099	0.0052	0.0208	0	0.0048	0.0034	0.0095	0.0076	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	876.94	35	chr19	57926276	.	AGT	A	876.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.04;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.70;MQRankSum=-3.112e+00;QD=6.96;ReadPosRankSum=-4.226e+00;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1231	20	0	1	0
chr19	57926279	57926279	-	GG	exonic	ZNF418	.	frameshift insertion	ZNF418:NM_001317030:exon2:c.1646_1647insCC:p.T550Lfs*53	.	.	428	1073	15	0	6	21	0.00694123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0085	0.0011	0.0095	0	0.0073	0.0123	0.0044	0.0018	0.0007684	20	26028	rs756712461	0.0016	0.0063	0.0015	0.0016	0.0040	0.0015	0.0015	0.0028	0.0023	0.0003	0.0008	0.0056	0	0.0025	0.0040	0.0016	0.0020	6.986e-05	0.0061	0.0089	0.0064	0.0057	0.0094	0.0057	0.0056	0.0088	0.0086	0.0011	0.0090	0.0052	0.0213	0	0.0048	0.0036	0.0094	0.0078	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	794.94	35	chr19	57926279	.	A	AGG	794.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=7.21;DP=807;ExcessHet=0.0000;FS=1.791;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.69;MQRankSum=-3.309e+00;QD=6.62;ReadPosRankSum=-3.782e+00;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1231	20	0	1	0
chr19	57926286	57926286	A	G	exonic	ZNF418	.	nonsynonymous SNV	ZNF418:NM_001317030:exon2:c.T1640C:p.F547S	.	.	429	1077	15	0	1	16	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.006	B	0.001	B	.	.	1.000	N	-2.3	N	3.21	T	-0.970	T	0.004	T	0.307	-1.459	0.019	-4.8	-1.675	-1.547	7.921	0.037	0.00139176472516	.	.	0.0011	0.0002	0.0009	0	0.0002	0.0018	0.0011	0.0001	0.0001153	3	26028	rs754856969	0.0007	0.0022	0.0007	0.0007	0.0019	0.0007	0.0006	0.0011	0.0008	0.0002	0.0005	0.0037	0	0.0012	0.0019	0.0007	0.0011	0	0.0043	0.0078	0.0044	0.0041	0.0065	0.0040	0.0039	0.0060	0.0058	0.0007	0.0046	0.0040	0.0167	0	0.0034	0	0.0065	0.0058	0.0009	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-1.95	0.00216	N	3.21	0.07125	T	2.33	0.00281	N	0.135	0.13626	-0.9701	0.37179	T	0.004	0.01192	T	9	0.007198304	0.00164	T	0.001392	0.02037	T	0.037	0.09474	.	.	0.0551355673512	0.04727	0.01625044036325455	0.01581	0.0377257243875	0.04003	0.367868036032	0.20526	T	0.001518	0.00960	T	-0.317262	0.07125	T	-0.693502	0.06189	T	0.0285097912318382	0.01763	T	0.546745	0.18722	T	0.02994329	0.02572	0.07247944	0.15643	0.02994329	0.02571	0.07247944	0.15643	0.193	0.00287	T	.	.	0.170	0.37858	B	.;.;.;.;.	.;.;.;.;.	-0.728011	0.01257	0.065	0.19729777939393434	0.00679	0.00146	0.00887	N	AEFBI	0.037813	0.05257	N	-1.85953321941803	0.00415	0.01785339	-1.83605549207893	0.00650	0.02892496	0.00254255846094499	0.09519	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.528226	0.09195	0	.	.	2.4	-4.8	0.02957	-2.888000	0.00778	.	.	-0.886000	0.02417	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1614:0.2539:0.5847:0.0	7.921	0.29006	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	602.98	35	chr19	57926286	.	A	G	602.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.21;DP=796;ExcessHet=0.0000;FS=0.920;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.66;MQRankSum=-3.565e+00;QD=5.53;ReadPosRankSum=-3.925e+00;SOR=0.882	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1231	20	0	1	0
chr19	57926289	57926297	GTTTCAGCA	-	exonic	ZNF418	.	nonframeshift deletion	ZNF418:NM_001317030:exon2:c.1629_1637del:p.A544_T546del	.	.	427	1080	14	0	1	15	0.00643974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0.0005	0	0	0.0001153	3	26028	rs768837080	0.0005	0.0021	0.0005	0.0005	0.0012	0.0005	0.0005	0.0006	0.0004	0.0001	0.0003	0.0026	0	0.0010	0.0012	0.0005	0.0009	0	0.0035	0.0074	0.0035	0.0035	0.0053	0.0032	0.0031	0.0048	0.0046	0.0006	0.0034	0.0033	0.0136	0	0.0029	0	0.0053	0.0043	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	383.94	35	chr19	57926288	.	GGTTTCAGCA	G	383.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.36;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.65;MQRankSum=-4.154e+00;QD=3.59;ReadPosRankSum=-4.506e+00;SOR=0.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1231	20	0	1	0
chr19	57926301	57926301	G	A	exonic	ZNF418	.	nonsynonymous SNV	ZNF418:NM_001317030:exon2:c.C1625T:p.S542F	.	.	430	1079	12	0	1	13	0.00552995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.99	D	0.787	P	.	.	1.000	N	1.7	L	2.15	T	-1.065	T	0.073	T	0.243	0.635	7.412	1.29	0.316	0.057	5.481	0.016	0.00390540273441	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001153	3	26028	rs771847469	0.0004	0.0020	0.0004	0.0004	0.0009	0.0004	0.0004	0.0004	0.0004	0.0001	0.0002	0.0021	0	0.0008	0.0009	0.0004	0.0008	1.161e-05	0.0031	0.0071	0.0031	0.0031	0.0047	0.0028	0.0028	0.0042	0.0041	0.0005	0.0034	0.0031	0.0130	0	0.0026	0	0.0047	0.0043	0.0006	0.283	0.15354	T	0.147	0.47828	T	0.99	0.63424	D	0.787	0.57594	P	.	.	.	.	1	0.08975	N	2.325	0.66631	M	2.15	0.19311	T	-2.78	0.58896	D	0.344	0.39861	-1.0651	0.10526	T	0.073	0.29675	T	9	0.019309342	0.00429	T	0.003905	0.09180	T	0.016	0.02506	.	.	0.276898752692	0.27294	0.024252981284365444	0.02376	0.0289499722451	0.02984	0.366685032845	0.20354	T	0.021685	0.16847	T	-0.228408	0.16858	T	-0.565869	0.15830	T	0.615540385246277	0.37024	D	0.49655	0.18153	T	0.10927151	0.25835	0.1288796	0.30998	0.10927151	0.25835	0.1288796	0.30997	-6.036	0.46580	T	.	.	0.255	0.50609	B	.;.;.;.;.	.;.;.;.;.	2.140614	0.27259	17.40	0.79716995808412361	0.12868	0.08643	0.14543	N	AEFBI	0.106608	0.21265	N	-0.329544032596889	0.28031	1.542745	-0.565126425660344	0.20405	1.099201	1.72760614122142E-5	0.02871	0.460665	0.09802	0	0.588066	0.40923	0	0.575934	0.27490	0	0.528226	0.09195	0	.	.	2.4	1.29	0.20717	-0.106000	0.10860	.	.	0.505000	0.23025	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.0:0.3851:0.4105:0.2044	5.481	0.16017	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	350.98	35	chr19	57926301	.	G	A	350.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.42;DP=790;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.64;MQRankSum=-4.220e+00;QD=3.41;ReadPosRankSum=-4.294e+00;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1231	20	0	1	0
chr19	57926315	57926315	G	T	exonic	ZNF418	.	nonsynonymous SNV	ZNF418:NM_001317030:exon2:c.C1611A:p.S537R	.	.	431	1076	6	0	9	15	0.00278035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.911	P	0.395	B	.	.	1.000	N	1.21	L	3.2	T	-1.020	T	0.016	T	0.161	1.087	9.437	-2.83	-0.333	-6.010	1.592	0.063	0.00412266712195	.	.	5.788e-05	0	0	0	0	0.0001	0	0	9.7e-05	15	154602	rs7245442	2.681e-05	0.0014	3.283e-05	2.073e-05	5.979e-05	2.007e-05	1.763e-05	1.635e-05	1.389e-05	5.979e-05	2.251e-05	0.0002	0	5.655e-05	0	2.35e-05	3.338e-05	0	0.0007	0.0039	0.0007	0.0007	0.0009	0.0006	0.0005	0.0007	0.0007	0.0001	0.0023	0.0009	0.0033	0	0.0008	0	0.0009	0.0010	0	0.25	0.18122	T	0.135	0.34716	T	0.911	0.50336	P	0.395	0.44317	B	.	.	.	.	1	0.08975	N	1.46	0.36832	L	3.2	0.07236	T	-2.83	0.59710	D	0.256	0.30914	-1.0202	0.23649	T	0.016	0.06425	T	9	0.036218226	0.01909	T	0.004123	0.09869	T	0.063	0.18251	0.31	0.28289	0.18995819373	0.18626	0.026930070384032563	0.02643	0.22658052965	0.25209	0.293004572392	0.09361	T	0.009437	0.08594	T	-0.561241	0.00249	T	-0.675211	0.07279	T	0.341226549971076	0.26672	T	0.111589	0.00840	T	0.14615527	0.33471	0.13731952	0.32827	0.14615527	0.33471	0.13731952	0.32826	-4.377	0.29244	T	.	.	0.257	0.49177	B	.;.;.;.;.	.;.;.;.;.	0.033730	0.04519	1.219	0.97486411957214891	0.34219	0.00920	0.03580	N	AEFBI	0.060836	0.11589	N	-1.32887122342335	0.03349	0.1494479	-1.54508096714278	0.02010	0.09184178	2.06913856637791E-4	0.05948	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.528226	0.09195	0	.	.	2.08	-2.83	0.05425	-4.687000	0.00229	.	.	-2.603000	0.00234	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2442:0.1737:0.4107:0.1713	1.592	0.02495	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	143.98	35	chr19	57926315	.	G	T	143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.77;DP=784;ExcessHet=0.0000;FS=2.807;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.62;MQRankSum=-5.142e+00;QD=1.48;ReadPosRankSum=-4.379e+00;SOR=1.042	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1231	20	0	1	0
chr19	57941799	57941799	T	C	exonic	ZNF256	.	nonsynonymous SNV	ZNF256:NM_001375403:exon2:c.A550G:p.S184G	.	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.292	B	0.157	B	.	.	1.000	N	0.135	N	2.42	T	-0.978	T	0.012	T	0.107	0.761	8.026	-4.89	-1.443	-7.893	3.419	0.012	0.0032677882782	0.0017	0.00139776	0.0024	0.0003	0.0021	0	0.0023	0.0032	0.0011	0.0018	0.0023738	367	154602	rs140799051	0.0030	0.0030	0.0030	0.0030	0.0035	0.0029	0.0029	0.0034	0.0034	0.0005	0.0012	0.0002	2.519e-05	0.0011	0.0010	0.0035	0.0022	0.0022	0.0018	0.0018	0.0019	0.0017	0.0028	0.0016	0.0016	0.0025	0.0023	0.0007	0.0199	0.0008	0	0	0.0014	0	0.0028	0.0014	0.0017	0.283	0.15354	T	0.478	0.11968	T	0.292	0.32352	B	0.157	0.34536	B	.	.	.	.	1	0.08975	N	0.275	0.09989	N	2.42	0.15376	T	-2.13	0.48354	N	0.108	0.09349	-0.9778	0.35503	T	0.012	0.04700	T	9	0.010630369	0.00236	T	0.003268	0.07237	T	0.012	0.01476	.	.	0.0551355673512	0.04727	0.03206899354367083	0.03154	0.120479051588	0.13563	0.355899184942	0.18787	T	0.020088	0.15881	T	-0.675361	0.00051	T	-0.741932	0.03810	T	0.0153281597660702	0.00340	T	0.378362	0.09086	T	0.04276352	0.06543	0.032602947	0.02021	0.04276352	0.06543	0.032602947	0.02021	-7.032	0.54267	T	.	.	0.278	0.51094	B	.	.	-0.542977	0.01734	0.129	0.87503712659419497	0.17274	0.01861	0.05745	N	AEFDBHCI	0.052954	0.09498	N	-1.50594206562015	0.01810	0.07934977	-1.65022437807027	0.01375	0.06209695	0.306488700207655	0.19243	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	2.45	-4.89	0.02875	-6.350000	0.00085	.	.	0.485000	0.22221	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4583:0.1335:0.0:0.4082	3.419	0.06959	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2699.98	34	chr19	57941799	.	T	C	2699.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.29;DP=906;ExcessHet=0.0000;FS=1.053;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.56;ReadPosRankSum=0.486;SOR=0.615	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1349	20	0	1	0
chr19	57979081	57979081	C	A	exonic	ZNF606	.	nonsynonymous SNV	ZNF606:NM_001348023:exon6:c.G1329T:p.M443I	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.032	B	0.02	B	0.000	D	1.000	D	-1.27	N	5.48	T	-0.969	T	0.001	T	0.638	-1.502	0.017	3.6	2.597	0.148	13.125	0.267	0.00220735139963	.	.	.	.	.	.	.	.	.	.	.	.	.	rs758537967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.032	0.20242	B	0.02	0.19048	B	0.000016	0.62929	D	0.000000	0.620641	0.32702	D	-1.085	0.01025	N	5.48	0.00939	T	0.67	0.02263	N	0.243	0.27435	-0.9690	0.37407	T	0.001	0.00438	T	10	0.055755317	0.06145	T	0.002207	0.04178	T	0.267	0.58126	0.459	0.52590	0.201204373187	0.19734	0.0742230664662008	0.07359	0.772036083369	0.64816	0.841368913651	0.88303	D	0.009396	0.08559	T	-0.141997	0.29572	T	-0.441745	0.28612	T	0.584000706672668	0.35772	D	0.533947	0.17813	T	0.23049799	0.45806	0.17751157	0.40358	0.23049799	0.45806	0.17751157	0.40357	0.216	0.00281	T	.	.	0.738	0.74557	P	.	.	2.217844	0.28299	17.75	0.81152909122954719	0.13545	0.00023	0.00238	N	AEFDBHCI	0.090160	0.18271	N	-0.7818342535366	0.13782	0.6815617	-0.553108452961092	0.20723	1.117824	0.00775812414055072	0.11537	0.556989	0.30585	1	0.588066	0.40923	0	0.608884	0.39905	0	0.297325	0.05528	3	.	.	4.71	3.6	0.40374	0.076000	0.14570	.	.	0.507000	0.23093	0.009000	0.18154	0.001000	0.17328	0.999000	0.91618	0.0:0.7444:0.2556:0.0	13.125	0.58766	976	0.04745	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	693.98	33	chr19	57979081	.	C	A	693.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.800e-02;DP=782;ExcessHet=0.0000;FS=0.818;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.54;ReadPosRankSum=-1.344e+00;SOR=0.664	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	20	0	1	0
chr19	57999867	57999867	C	T	exonic	ZNF606	.	nonsynonymous SNV	ZNF606:NM_001348022:exon4:c.G118A:p.V40M	.	.	383	1126	13	0	0	13	0.00573951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.001	B	0.001	B	0.496	N	1.000	N	-0.345	N	3.68	T	-0.923	T	0.008	T	0.18	-1.095	0.148	-5.24	-1.136	-1.454	5.819	0.009	.	0.0022	0.00439297	0.0030	0.0003	0.0015	0	0.0011	0.0019	0.0078	0.0122	0.0030207	467	154602	rs139131343	0.0033	0.0033	0.0030	0.0036	0.0122	0.0032	0.0032	0.0116	0.0114	0.0005	0.0021	0.0003	0	0.0007	0.0061	0.0030	0.0031	0.0122	0.0024	0.0023	0.0021	0.0026	0.0124	0.0021	0.0021	0.0099	0.0090	0.0004	0	0.0046	0.0003	0	0.0006	0.0068	0.0029	0.0033	0.0124	0.358	0.14894	T	0.136	0.34009	T	0.001	0.07471	B	0.001	0.04355	B	0.496443	0.05066	N	1.397780	1	0.08975	N	-0.345	0.03330	N	3.28	0.06523	T	-0.02	0.07299	N	0.154	0.15888	-0.9227	0.45182	T	0.008	0.02842	T	10	0.0033984184	0.00059	T	.	.	.	0.009	0.00846	.	.	0.101711395817	0.09552	0.0532256403551682	0.05264	0.187770376275	0.21096	0.31148403883	0.12130	T	0.013822	0.11884	T	-0.683172	0.00046	T	-0.743718	0.03736	T	0.00987046295893953	0.00131	T	0.150485	0.11714	T	0.013685049	0.00066	0.027382242	0.00887	0.013685049	0.00066	0.027382242	0.00887	-3.616	0.18088	T	.	.	0.089	0.36134	B	.;.;.;.	.;.;.;.	-0.392850	0.02240	0.228	0.67414471268308063	0.08347	0.02725	0.07389	N	AEFDBCI	0.029107	0.02687	N	-1.57734524046376	0.01381	0.06021506	-1.64153807407759	0.01420	0.06421428	0.998019947658434	0.36314	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.491896	0.07777	0	.	.	3.55	-5.24	0.02576	-1.692000	0.02019	.	.	-0.266000	0.06809	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.148:0.2494:0.0:0.6026	5.819	0.17774	976	0.04745	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	362.98	33	chr19	57999867	.	C	T	362.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.961e+00;DP=803;ExcessHet=0.0000;FS=2.156;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.42;ReadPosRankSum=0.374;SOR=0.775	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr19	58068311	58068311	C	A	exonic	ZNF135	.	nonsynonymous SNV	ZNF135:NM_007134:exon4:c.C1899A:p.H633Q	.	.	423	1087	12	0	0	12	0.00548948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.001	B	0.009	B	.	.	1.000	N	-0.285	N	2.61	T	-1.010	T	0.016	T	0.181	-0.759	0.791	-1.32	-0.025	-3.165	0.547	0.007	.	0.0019	0.00279553	0.0036	0.0005	0.0006	0.0001	0.0207	0.0030	0.0055	0.0048	0.0032147	497	154602	rs147006683	0.0035	0.0035	0.0034	0.0036	0.0047	0.0034	0.0034	0.0040	0.0038	0.0005	0.0007	0.0039	0	0.0170	0.0047	0.0031	0.0032	0.0043	0.0034	0.0033	0.0027	0.0040	0.0032	0.0031	0.0030	0.0028	0.0027	0.0004	0	0.0021	0.0049	0	0.0196	0.0068	0.0032	0.0005	0.0031	0.098	0.31987	T	0.066	0.45744	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.905	0.01334	N	2.61	0.13095	T	-0.18	0.09796	N	0.118	0.10769	-1.0097	0.27012	T	0.016	0.06711	T	9	0.0023991466	0.00036	T	.	.	.	0.020	0.03691	0.174	0.08014	0.101711395817	0.09552	0.017110014563419786	0.01666	0.0931662067262	0.10528	0.295115858316	0.09675	T	0.031418	0.22034	T	-0.649454	0.00073	T	-0.705268	0.05542	T	0.00229486043302544	0.00024	T	0.137186	0.01086	T	0.043646544	0.06838	0.06458124	0.12964	0.043646544	0.06837	0.06458124	0.12964	-5.099	0.40552	T	.	.	0.113	0.25232	B	.;.;.;.	.;.;.;.	0.335352	0.07092	3.664	0.68108573671700368	0.08558	0.03971	0.09381	N	AEFGBHCI	0.033008	0.03835	N	-1.28283656657397	0.03882	0.1742202	-1.39432901785494	0.03312	0.1542412	5.54049262928969E-5	0.04171	0.562547	0.31514	0	0.573888	0.26702	0	0.608884	0.39905	0	0.613276	0.41899	0	.	.	3.37	-1.32	0.08721	-3.948000	0.00369	-3.046000	0.03110	-0.320000	0.05874	0.000000	0.06391	0.000000	0.08366	0.320000	0.24970	0.3476:0.1854:0.2947:0.1723	0.547	0.00612	970	0.06235	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	rs147006683	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2095.98	49	chr19	58068311	.	C	A	2095.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.45;DP=1052;ExcessHet=0.0000;FS=2.079;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.46;ReadPosRankSum=-1.706e+00;SOR=0.785	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	20	0	1	0
chr19	58212452	58212452	A	G	exonic	ZNF274	.	nonsynonymous SNV	ZNF274:NM_016324:exon5:c.A956G:p.N319S	.	.	426	1078	16	0	2	18	0.00736648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.473	P	0.088	B	0.274	N	1.000	N	.	.	3.41	T	-1.002	T	0.008	T	0.033	-2.272	0.004	-0.47	-1.858	-0.241	.	0.024	0.00918949002761	0.0010	0.000998403	0.0010	0.0002	0.0008	0	0	0.0012	0.0011	0.0016	0.0009444	146	154602	rs190213013	0.0014	0.0014	0.0013	0.0014	0.0068	0.0013	0.0013	0.0051	0.0045	0.0003	0.0009	0	0	1.876e-05	0.0068	0.0015	0.0018	0.0016	0.0010	0.0010	0.0011	0.0009	0.0015	0.0009	0.0008	0.0013	0.0012	0.0002	0.0220	0.0009	0	0	0	0	0.0015	0.0009	0.0015	.	.	.	1.0	0.01155	T	0.473	0.36591	P	0.088	0.29688	B	0.274199	0.03791	N	1.646620	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.011	0.00445	-1.0017	0.29430	T	0.008	0.02760	T	8	0.004541546	0.00094	T	0.009189	0.24154	T	0.024	0.04979	.	.	0.207176502487	0.20327	0.042041687510274914	0.04149	0.235332845833	0.26065	0.206556916237	0.00673	T	0.026574	0.19638	T	-0.675816	0.00051	T	-0.75677	0.03230	T	0.0034575339530296	0.00036	T	0.463454	0.13490	T	0.033697676	0.03639	0.04140205	0.04698	0.033697676	0.03638	0.04140205	0.04697	-5.31	0.43228	T	.	.	0.103	0.35288	B	.;.;.;.;.	.;.;.;.;.	-0.826013	0.01057	0.046	0.22980009723723005	0.00950	0.00068	0.00484	N	AEFDBHCI	0.031618	0.03417	N	-1.72447613793533	0.00758	0.03275647	-1.87319309313305	0.00552	0.02450146	0.176455474352768	0.17811	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	0.235	-0.47	0.11525	-0.130000	0.10477	-0.833000	0.07248	-0.462000	0.05112	0.000000	0.06391	0.009000	0.19889	0.031000	0.13245	.	.	.	964	0.07719	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3817.11	34	chr19	58212452	.	A	G	3817.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.04;DP=1073;ExcessHet=0.1072;FS=2.683;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.59;ReadPosRankSum=0.899;SOR=0.561	GT:AD:DP:GQ:PL	0/1:136,76:212:99:1797,0,3288	19	0	2	0
chr19	58261837	58261837	G	A	exonic	ZNF544	.	nonsynonymous SNV	ZNF544:NM_001320770:exon6:c.G1147A:p.D383N	.	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.006	B	0.005	B	.	.	1.000	N	0.06	N	2.14	T	-0.969	T	0.017	T	0.021	-0.063	3.692	-2.18	-0.133	-2.964	1.393	0.005	0.00154710597534	.	.	0.0002	0	0	0	0	5.994e-05	0	0.0014	3.84e-05	1	26028	rs755272339	2.263e-05	0.0002	1.501e-05	3.033e-05	0.0004	1.614e-05	1.42e-05	0.0003	0.0002	0	0	0	0	0	0.0002	9.002e-07	1.661e-05	0.0004	0.0003	0.0049	0.0003	0.0002	0.0017	0.0002	0.0002	0.0009	0.0006	0.0002	0	7.019e-05	0.0003	0.0017	0.0003	0.0050	0.0001	0.0016	0.0016	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	1.535	0.38868	L	2.14	0.19450	T	2.65	0.00200	N	0.071	0.08925	-0.9686	0.37489	T	0.017	0.06902	T	9	0.013374776	0.00284	T	0.001547	0.02445	T	0.005	0.00259	.	.	0.253205268125	0.24938	0.005396124770309474	0.00510	0.0202382991849	0.01983	0.235195860267	0.02374	T	0.006693	0.06116	T	-0.41284	0.01903	T	-0.830793	0.01248	T	0.0531342471336438	0.06042	T	0.237376	0.04045	T	0.020067183	0.00553	0.030749334	0.01571	0.020067183	0.00553	0.030749334	0.01571	-0.003	0.00350	T	.	.	0.089	0.11941	B	.;.;.;.;.	.;.;.;.;.	-0.521135	0.01801	0.140	0.80583517920781367	0.13272	0.00001	0.00044	N	AEFDBHCI	0.021121	0.00906	N	-1.69645841207483	0.00855	0.03696136	-1.73169925077662	0.01004	0.04500134	0.0266820423359579	0.13728	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.549297	0.17558	0	.	.	2.66	-2.18	0.06643	-4.374000	0.00279	-11.344000	0.00613	-0.598000	0.04625	0.000000	0.06391	0.000000	0.08366	0.030000	0.13115	0.4092:0.3164:0.1178:0.1566	1.393	0.02118	964	0.07719	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	260.98	34	chr19	58261837	.	G	A	260.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.526;DP=783;ExcessHet=0.0000;FS=4.512;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.17;MQRankSum=-6.331e+00;QD=2.97;ReadPosRankSum=-7.570e-01;SOR=1.421	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1101	20	0	1	0
chr19	58262194	58262194	T	A	exonic	ZNF544	.	nonsynonymous SNV	ZNF544:NM_001320770:exon6:c.T1504A:p.S502T	.	.	406	1115	1	0	0	1	0.000448229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.024	B	0.027	B	.	.	1.000	N	-0.64	N	3.21	T	-0.920	T	0.009	T	0.019	0.099	4.531	-1.2	-0.077	-0.883	8.551	0.009	0.00205867148311	.	.	0.0002	0	0	0	0	5.996e-05	0	0.0013	6.5e-06	1	154602	rs780383112	2.395e-05	0.0002	1.225e-05	3.577e-05	0.0003	1.739e-05	1.539e-05	0.0002	0.0002	0	0	0	0	0	0.0003	3.598e-06	0	0.0003	2.703e-05	0.0002	1.321e-05	4.152e-05	0.0004	8.32e-06	5.26e-06	7.539e-05	3.121e-05	0	0	0	0	0	0	0	2.992e-05	0	0.0004	1.0	0.00964	T	0.301	0.24694	T	0.024	0.19075	B	0.027	0.21085	B	.	.	.	.	1	0.08975	N	0.98	0.24916	L	3.21	0.07125	T	-1.13	0.29114	N	0.046	0.08227	-0.9198	0.45581	T	0.009	0.03403	T	9	0.014545292	0.00306	T	0.002059	0.03775	T	0.009	0.00846	.	.	0.107399877778	0.10242	0.006489889182557729	0.00616	0.0198160390817	0.01945	0.424367368221	0.28438	T	0.016621	0.16317	T	-0.423906	0.01616	T	-0.846688	0.01003	T	0.0222612926206605	0.00939	T	0.0990901	0.00735	T	0.05838912	0.11741	0.07074216	0.15068	0.05838912	0.11740	0.07074216	0.15067	-2.425	0.05288	T	.	.	0.225	0.51575	B	.;.;.;.;.	.;.;.;.;.	-0.433122	0.02092	0.195	0.65255687798250261	0.07721	0.00001	0.00044	N	AEFDGBHCI	0.029570	0.02817	N	-1.52978405499336	0.01657	0.07246394	-1.54800263535639	0.01990	0.09089584	0.0840016073503968	0.15943	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.8	-1.2	0.09062	-3.114000	0.00659	-10.919000	0.00652	-0.375000	0.05424	0.000000	0.06391	0.000000	0.08366	0.793000	0.37436	0.2584:0.0:0.0:0.7416	8.551	0.32610	964	0.07719	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	531.98	34	chr19	58262194	.	T	A	531.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.56;DP=789;ExcessHet=0.0000;FS=5.148;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.09;MQRankSum=-6.258e+00;QD=5.60;ReadPosRankSum=0.600;SOR=1.240	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1101	20	0	1	0
chr19	58262202	58262202	T	A	exonic	ZNF544	.	nonsynonymous SNV	ZNF544:NM_001320770:exon6:c.T1512A:p.S504R	.	.	407	1114	1	0	0	1	0.000448632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.146	B	0.028	B	.	.	1.000	N	0.86	L	1.2	T	-1.030	T	0.041	T	0.259	-0.221	2.932	-5.6	-1.637	-5.588	2.444	0.021	0.00201317226664	.	.	0.0002	0	0	0	0	4.497e-05	0	0.0013	6.5e-06	1	154602	rs768797258	1.711e-05	0.0002	4.086e-06	3.028e-05	0.0003	1.175e-05	9.93e-06	0.0002	0.0002	0	0	0	0	0	0	1.799e-06	0	0.0003	3.494e-05	0.0002	0	7.145e-05	0.0005	1.322e-05	8.42e-06	7.989e-05	3.251e-05	0	0	0	0	0.0002	0	0	3.075e-05	0	0.0005	0.481	0.08212	T	0.288	0.27056	T	0.146	0.27821	B	0.028	0.21332	B	.	.	.	.	1	0.08975	N	-0.15	0.04376	N	1.2	0.37405	T	-3.04	0.62863	D	0.121	0.21969	-1.0299	0.20487	T	0.041	0.17827	T	9	0.022663563	0.00572	T	0.002013	0.03642	T	0.021	0.04004	0.397	0.42426	0.115124310173	0.11017	0.012809499523976652	0.01239	0.0588636185356	0.06534	0.413453549147	0.26935	T	0.020479	0.24670	T	-0.24554	0.14650	T	-0.590477	0.13625	T	0.0405842674787601	0.03796	T	0.318868	0.06391	T	0.15202467	0.34530	0.12028699	0.29031	0.15202467	0.34530	0.12028699	0.29030	-3.152	0.11903	T	.	.	0.526	0.69456	A	.;.;.;.;.	.;.;.;.;.	-0.030061	0.04080	0.954	0.52857432855293462	0.04828	0.00003	0.00079	N	AEFDGBHCI	0.067637	0.13307	N	-1.68024179853011	0.00914	0.03958185	-1.82282744025209	0.00689	0.03066797	0.995167863684917	0.33984	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.8	-5.6	0.02298	-5.197000	0.00168	-20.000000	0.00162	-0.325000	0.05822	0.000000	0.06391	0.000000	0.08366	0.628000	0.32104	0.1094:0.3579:0.2451:0.2876	2.444	0.04227	964	0.07719	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	446.98	34	chr19	58262202	.	T	A	446.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=788;ExcessHet=0.0000;FS=5.259;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.07;MQRankSum=-6.703e+00;QD=4.71;ReadPosRankSum=0.969;SOR=1.371	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1101	20	0	1	0
chr19	58339201	58339201	C	T	exonic	ZSCAN22	.	nonsynonymous SNV	ZSCAN22:NM_001321116:exon3:c.C1351T:p.L451F	.	.	408	1093	18	3	0	24	0.0108597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.992	D	.	.	0.999	N	1.93	M	0.68	T	-0.924	T	0.228	T	0.43	2.164	13.19	1.86	0.450	0.444	7.101	0.168	.	0.0005	0.00459265	0.0027	0.0002	0.0007	0.0001	0	0.0007	0.0033	0.0161	0.0023738	367	154602	rs145683189	0.0014	0.0014	0.0009	0.0019	0.0174	0.0014	0.0013	0.0166	0.0164	5.974e-05	0.0007	0.0007	2.519e-05	1.872e-05	0.0050	0.0004	0.0015	0.0174	0.0010	0.0010	0.0007	0.0013	0.0145	0.0009	0.0008	0.0118	0.0108	9.643e-05	0	0.0016	0.0009	0.0002	0	0	0.0007	0.0009	0.0145	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.992	0.80445	D	.	.	.	.	0.99858	0.22057	N	1.96	0.53105	M	0.68	0.51952	T	-3.17	0.64363	D	0.198	0.21839	-0.9245	0.44929	T	0.228	0.59359	T	9	0.004916042	0.00105	T	.	.	.	0.168	0.42943	.	.	0.477762074677	0.47404	0.11406229735062097	0.11334	0.55065850351	0.51926	0.579807937145	0.50059	T	0.256268	0.62715	T	-0.410054	0.01986	T	-0.348165	0.39416	T	0.037850638319369	0.03306	T	0.867613	0.56877	D	0.2457872	0.47541	0.31070474	0.57080	0.2457872	0.47541	0.31070474	0.57080	-7.615	0.58415	D	.	.	0.736	0.74447	P	.	.	3.500919	0.48979	22.7	0.99769058846002001	0.85750	0.15504	0.18944	N	AEFDGBHCI	0.029589	0.02822	N	-0.0964564221837833	0.37548	2.186043	-0.315747428431318	0.27590	1.532011	0.180240784314584	0.17861	0.460665	0.09802	0	0.577304	0.33150	0	0.505578	0.09266	0	0.491896	0.07777	0	.	.	4.06	1.86	0.24489	0.853000	0.27431	0.679000	0.20664	0.524000	0.24156	0.010000	0.18352	0.878000	0.27671	0.883000	0.42306	0.0:0.7241:0.1754:0.1005	7.101	0.24512	958	0.09170	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2769.98	211	chr19	58339201	.	C	T	2769.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=1011;ExcessHet=0.0000;FS=1.074;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.13;ReadPosRankSum=-4.920e-01;SOR=0.802	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	20	0	1	0
chr19	58350633	58350633	T	G	exonic	A1BG	.	nonsynonymous SNV	A1BG:NM_130786:exon6:c.A929C:p.E310A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.021	B	0.103	B	0.596	N	1.000	N	1.1	L	5.8	T	-0.907	T	0.002	T	0.168	-0.083	3.594	-5.54	-1.529	-1.980	2.418	0.026	0.0190266516609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	0.13699	T	0.218	0.26066	T	0.021	0.18474	B	0.103	0.30945	B	0.595622	0.05616	N	1.301300	1	0.08975	N	1.06	0.26948	L	5.8	0.01114	T	-0.23	0.10656	N	0.087	0.06454	-0.9070	0.47215	T	0.002	0.00738	T	10	0.039272964	0.02405	T	0.019027	0.41279	T	0.026	0.05648	0.229	0.15556	0.166414681773	0.16258	0.2777838814062749	0.27691	0.482527676696	0.47219	0.621379852295	0.55924	T	0.144309	0.48087	T	-0.295294	0.09111	T	-0.661946	0.08135	T	0.13820119202137	0.16119	T	0.394561	0.15399	T	0.035406977	0.04162	0.039752193	0.04141	0.035406977	0.04162	0.039752193	0.04141	-2.775	0.07955	T	.	.	0.074	0.12276	B	.;.	.;.	0.205002	0.05893	2.333	0.28583045254131939	0.01475	0.01250	0.04399	N	AEFDBHI	0.148062	0.27187	N	-1.9544492333405	0.00265	0.01134703	-2.0408841477752	0.00250	0.01104685	0.999997857966967	0.74766	0.437478	0.07067	0	0.296712	0.05252	1	0.578056	0.29568	0	0.603991	0.37454	0	.	.	4.04	-5.54	0.02343	-0.910000	0.04163	-1.488000	0.05326	-1.809000	0.00614	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5325:0.0871:0.1265:0.2539	2.418	0.04170	958	0.09170	Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	250.98	25	chr19	58350633	.	T	G	250.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.443;DP=449;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=1.38;SOR=0.551	GT:AD:DP:GQ:PL	0/0:25,0:25:41:0,41,760	20	0	1	0
chr19	58352287	58352289	CTC	-	exonic	A1BG	.	nonframeshift deletion	A1BG:NM_130786:exon4:c.607_609del:p.E203del,	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.32e-06	0	0	0	0	1.513e-05	0	0	6.5e-06	1	154602	rs781356828	4.791e-06	4.788e-06	4.085e-06	5.504e-06	0.0004	1.99e-06	1.28e-06	6.253e-05	2.581e-05	0	0	0	0	0	0.0004	2.699e-06	3.314e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2346.94	37	chr19	58352286	.	GCTC	G	2346.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.510;DP=875;ExcessHet=0.0000;FS=3.527;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.34;ReadPosRankSum=0.533;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1384	20	0	1	0
chr19	58352294	58352294	A	G	exonic	A1BG	.	nonsynonymous SNV	A1BG:NM_130786:exon4:c.T602C:p.I201T,	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.942	D	0.050	N	1.000	N	2.545	M	2.62	T	-1.090	T	0.086	T	0.241	1.221	9.954	3.39	1.788	0.259	8.501	0.055	0.0127651583795	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1488563062	6.158e-06	6.156e-06	5.446e-06	6.877e-06	0.0004	2.9e-06	2.1e-06	6.157e-05	2.545e-05	0	0	0	0	0	0.0004	2.698e-06	3.312e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.70582	D	0.996	0.68779	D	0.942	0.67772	D	0.050132	0.23099	N	0.312671	0.999998	0.08975	N	3.06	0.86941	M	2.62	0.12988	T	-3.16	0.64246	D	0.34	0.38129	-1.0901	0.05515	T	0.086	0.33382	T	10	0.34220207	0.51256	T	0.012765	0.31612	T	0.055	0.15663	0.49	0.57573	0.535537035517	0.53204	0.4831815733203063	0.48238	1.16018871678	0.79457	0.590018510818	0.51497	T	0.547466	0.84616	D	-0.245077	0.14708	T	-0.492959	0.23080	T	0.891608655452728	0.54258	D	0.636336	0.25008	T	0.16953377	0.37475	0.18313989	0.41285	0.16953377	0.37475	0.18313989	0.41284	-10.294	0.75653	D	.	.	0.196	0.58523	B	.;.	.;.	3.244568	0.44300	21.9	0.98734699320473585	0.45408	0.10038	0.15652	N	AEFDBCI	0.163393	0.28967	N	-0.0104660157373476	0.41381	2.474145	-0.259295309931592	0.29453	1.650199	0.999708203174194	0.41986	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	3.39	3.39	0.37919	0.663000	0.24735	8.980000	0.78490	0.756000	0.94297	0.001000	0.13787	0.947000	0.28924	0.053000	0.15439	1.0:0.0:0.0:0.0	8.501	0.32317	958	0.09170	Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2387.98	37	chr19	58352294	.	A	G	2387.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.280e-01;DP=870;ExcessHet=0.0000;FS=4.702;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.91;ReadPosRankSum=0.649;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1384	20	0	1	0
chr19	58356146	58356146	G	A	exonic	ZNF497	.	nonsynonymous SNV	ZNF497:NM_001207009:exon2:c.C1490T:p.A497V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.188	B	0.001	B	.	.	1.000	N	0.52	N	3.22	T	-0.982	T	0.014	T	0.116	3.013	16.05	1.14	0.946	0.976	8.153	0.073	0.00348551301475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.124e-07	4.788e-06	1.405e-06	0	9.231e-07	0	0	.	.	0	0	0	0	0	0	9.231e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	0.13003	T	0.153	0.32144	T	0.188	0.29318	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.46	0.36832	L	3.22	0.07024	T	-0.24	0.10833	N	0.086	0.10769	-0.9820	0.34538	T	0.014	0.05561	T	9	0.07361519	0.11145	T	0.003486	0.07878	T	0.073	0.21317	0.299	0.26522	0.270889551736	0.26708	0.03761249592480663	0.03707	0.320533716829	0.34262	0.547949790955	0.45568	T	0.001829	0.01251	T	-0.335217	0.05727	T	-0.719292	0.04830	T	0.223958217380851	0.21660	T	0.354465	0.08000	T	0.025563806	0.01508	0.039834782	0.04167	0.025563806	0.01507	0.039834782	0.04167	-5.675	0.43470	T	.	.	0.086	0.10931	B	.;.	.;.	1.154420	0.15429	11.84	0.99098204323405226	0.52396	0.07912	0.13900	N	AEFDBCI	0.061805	0.11841	N	-0.897117743292596	0.10911	0.5237707	-0.963573660851468	0.10609	0.5354321	0.999997732648777	0.74766	0.713056	0.82018	0	0.759151	0.99529	0	0.608524	0.38960	0	0.56751	0.32155	0	.	.	1.14	1.14	0.19817	0.416000	0.20918	-4.138000	0.02321	0.271000	0.18527	0.001000	0.13787	0.000000	0.08366	0.427000	0.27384	0.0:0.0:1.0:0.0	8.153	0.30310	958	0.09170	Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	472.98	41	chr19	58356146	.	G	A	472.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.080e-01;DP=784;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.02;ReadPosRankSum=-3.190e-01;SOR=0.618	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1129	20	0	1	0
chr19	58417159	58417159	A	G	exonic	ZNF584	.	nonsynonymous SNV	ZNF584:NM_001363680:exon4:c.A506G:p.H169R	.	.	414	1101	7	0	0	7	0.00316885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.958	D	.	.	1.000	D	2.58	M	0.07	T	-0.357	T	0.345	T	0.341	3.126	16.45	3.78	1.720	0.923	6.555	0.287	0.0719061472969	0.0002	0.000599042	0.0005	0	0	0	0	0.0003	0.0011	0.0028	0.0004916	76	154602	rs149429599	0.0004	0.0004	0.0004	0.0005	0.0029	0.0004	0.0004	0.0026	0.0025	5.974e-05	6.711e-05	0	0	5.616e-05	0.0019	0.0003	0.0004	0.0029	0.0003	0.0003	0.0004	0.0003	0.0046	0.0003	0.0002	0.0031	0.0026	2.405e-05	0	0	0	0	0	0	0.0004	0.0005	0.0046	0.04	0.42199	D	0.04	0.53426	D	0.998	0.73220	D	0.958	0.70027	D	.	.	.	.	0.997455	0.22652	N	2.65	0.77586	M	0.07	0.61677	T	-5.43	0.85323	D	0.184	0.19995	-0.3572	0.73345	T	0.345	0.71004	T	9	0.011146396	0.00245	T	0.071906	0.71392	D	0.287	0.60574	.	.	0.776359005846	0.77430	0.6237655610279504	0.62309	0.396773779796	0.40786	0.33080291748	0.15056	T	0.166681	0.51301	T	-0.390031	0.02689	T	-0.337645	0.40612	T	0.164711508338464	0.18213	T	0.348865	0.07732	T	0.342006	0.56439	0.40971482	0.65253	0.342006	0.56439	0.40971482	0.65253	-8.125	0.61919	D	.	.	0.305	0.53347	B	.;.	.;.	2.948223	0.39226	20.9	0.99515071391132726	0.68858	0.52256	0.29088	D	AEFBI	.	.	.	0.243456063168605	0.53315	3.501026	0.0768390299467812	0.43386	2.641452	0.810832668586966	0.24352	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	3.78	3.78	0.42629	-0.010000	0.12681	0.091000	0.14516	0.733000	0.85838	0.000000	0.06391	0.000000	0.08366	0.899000	0.43558	0.7854:0.0:0.0:0.2146	6.555	0.21652	929	0.16858	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1761.98	34	chr19	58417159	.	A	G	1761.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.011e+00;DP=1637;ExcessHet=0.0000;FS=3.537;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=0.258;SOR=0.791	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1350	20	0	1	0
chr19	58417384	58417384	G	A	exonic	ZNF584	.	nonsynonymous SNV	ZNF584:NM_001363680:exon4:c.G731A:p.R244Q	.	.	424	1085	11	2	0	15	0.00686499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.004	B	.	.	0.863	N	0.405	N	1.29	T	-0.960	T	0.028	T	0.054	-0.317	2.493	-2.29	-0.172	-0.003	8.258	0.041	.	0.0035	0.00239617	0.0055	0.0005	0.0014	0	0.0237	0.0066	0.0110	0.0025	0.0052781	816	154602	rs35111737	0.0060	0.0060	0.0061	0.0060	0.0110	0.0059	0.0059	0.0088	0.0080	0.0008	0.0017	0.0106	0	0.0254	0.0110	0.0058	0.0061	0.0021	0.0057	0.0057	0.0051	0.0062	0.0071	0.0053	0.0052	0.0066	0.0064	0.0009	0	0.0027	0.0118	0	0.0219	0.0205	0.0071	0.0057	0.0017	0.734	0.03764	T	0.784	0.04274	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	0.999995	0.08975	N	0.28	0.10031	N	1.29	0.35775	T	1.63	0.00629	N	0.058	0.03726	-0.9596	0.39255	T	0.028	0.11838	T	9	0.004229307	0.00084	T	.	.	.	0.041	0.10877	.	.	0.21279746466	0.20884	0.15045638723025195	0.14967	0.239648727722	0.26511	0.274905443192	0.06792	T	0.005071	0.04506	T	-0.68172	0.00047	T	-0.745197	0.03676	T	0.00341476257635282	0.00036	T	0.741726	0.36682	T	0.029593606	0.02479	0.053629592	0.09072	0.029593606	0.02479	0.053629592	0.09072	-0.723	0.00739	T	.	.	0.072	0.05890	B	.;.	.;.	0.162145	0.05527	1.987	0.75716381492158857	0.11183	0.04870	0.10609	N	AEFBI	.	.	.	-1.32224677869663	0.03421	0.1528141	-1.23585087168514	0.05344	0.2543848	0.0812753254984414	0.15869	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	3.78	-2.29	0.06419	-0.884000	0.04273	-2.949000	0.03201	-0.763000	0.03499	0.000000	0.06391	0.000000	0.08366	0.916000	0.45140	0.6334:0.0:0.3666:0.0	8.258	0.30929	929	0.16858	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	rs35111737	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4311.11	34	chr19	58417384	.	G	A	4311.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.11;DP=1705;ExcessHet=0.1072;FS=4.621;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.87;ReadPosRankSum=-7.710e-01;SOR=0.481	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1350	19	0	2	0
chr19	58498582	58498582	G	C	exonic	SLC27A5	.	nonsynonymous SNV	SLC27A5:NM_001321196:exon10:c.C1754G:p.A585G	.	.	424	1054	43	1	0	45	0.0209011	.	.	269235	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.32	T	0.004	B	0.015	B	0.017	N	1.000	N	0.725	N	0.62	T	-1.055	T	0.055	T	0.148	0.732	7.891	2.51	1.137	0.058	9.675	0.022	.	0.0062	0.00439297	0.0072	0.0010	0.0091	0	0.0044	0.0087	0.0125	0.0084	0.0068757	1063	154602	rs145618122	0.0063	0.0063	0.0060	0.0065	0.0225	0.0062	0.0061	0.0194	0.0182	0.0007	0.0087	0.0523	0	0.0033	0.0225	0.0051	0.0102	0.0087	0.0054	0.0054	0.0054	0.0054	0.0102	0.0051	0.0050	0.0079	0.0071	0.0008	0	0.0071	0.0527	0	0.0033	0.0204	0.0057	0.0123	0.0102	0.14	0.25664	T	0.14	0.33554	T	0.004	0.12183	B	0.015	0.17295	B	0.016500	0.27965	N	0.370857	1	0.08975	N	2.18	0.61292	M	-1.05	0.76690	T	-1.7	0.40468	N	0.164	0.26475	-1.0548	0.13093	T	0.055	0.23186	T	10	0.003809452	0.00071	T	.	.	.	0.022	0.04323	.	.	0.657588586956	0.65472	0.27433375528701	0.27346	0.295824562722	0.31980	0.273551166058	0.06608	T	0.132586	0.46276	T	-0.431819	0.01445	T	-0.387364	0.34861	T	0.00934378138432285	0.00119	T	0.680532	0.28920	T	0.11716695	0.27626	0.09850016	0.23484	0.11716695	0.27626	0.09850016	0.23484	-6.486	0.52171	T	.	.	0.093	0.14062	B	.;.;.	.;.;.	1.351631	0.17595	13.26	0.95864334032436205	0.28030	0.07487	0.13503	N	AEFBI	0.283998	0.39697	N	-0.80902216731682	0.13079	0.6418616	-0.788469485847166	0.14778	0.7739335	0.999996703293463	0.74766	0.660085	0.49399	0	0.685571	0.66316	0	0.685571	0.62057	0	0.651492	0.60203	0	.	.	4.85	2.51	0.29435	0.397000	0.20608	3.576000	0.39140	0.676000	0.76740	0.000000	0.06391	0.982000	0.30508	0.120000	0.19168	0.0:0.0:0.6228:0.3772	9.675	0.39199	866	0.32446	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	820.98	36	chr19	58498582	.	G	C	820.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.170e-01;DP=802;ExcessHet=0.0000;FS=0.851;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.66;ReadPosRankSum=-1.258e+00;SOR=0.892	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1150	20	0	1	0
chr19	58562353	58562353	C	T	exonic	MZF1	.	nonsynonymous SNV	MZF1:NM_003422:exon6:c.G1924A:p.E642K	.	.	425	1093	4	0	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87	T	0.912	P	0.221	B	0.006	N	1.000	N	0.505	N	1.3	T	-1.042	T	0.019	T	0.271	2.311	13.68	3.06	2.014	-0.267	9.839	0.077	0.008372750662	.	0.00199681	0.0005	0	0	0.0054	0	3.57e-05	0	0.0007	0.0004463	69	154602	rs115386056	0.0008	0.0008	0.0008	0.0009	0.0289	0.0008	0.0008	0.0275	0.0270	0	2.438e-05	0	0.0289	0	0.0002	1.809e-05	0.0003	0.0006	0.0004	0.0004	0.0003	0.0004	0.0095	0.0003	0.0003	0.0072	0.0064	0	0	7.279e-05	0	0.0095	0	0	1.597e-05	0.0005	0.0019	0.202	0.20230	T	0.936	0.02725	T	0.912	0.50421	P	0.221	0.37837	B	0.005620	0.32654	N	0.000000	1	0.08975	N	-0.51	0.02586	N	1.3	0.35590	T	-0.56	0.17003	N	0.396	0.44283	-1.0415	0.16860	T	0.019	0.08173	T	10	0.010908425	0.00241	T	0.008373	0.22156	T	0.077	0.22490	.	.	0.533808175679	0.53030	0.13240838619643283	0.13164	1.84979452733	0.92269	0.835794210434	0.87451	D	0.095881	0.39712	T	-0.559918	0.00254	T	-0.534565	0.18833	T	0.0413714613029522	0.03940	T	0.0868913	0.00638	T	0.12394893	0.29094	0.10659251	0.25645	0.12394893	0.29094	0.10659251	0.25645	-8.37	0.63565	D	.	.	0.964	0.89226	P	.;.	.;.	3.519027	0.49320	22.8	0.99734619113182021	0.83047	0.03086	0.08007	N	AEFDGBHIJ	0.058803	0.11059	N	-0.433636401983396	0.24298	1.311	-0.430916530293502	0.24095	1.317571	0.999999906846603	0.74766	0.72623	0.87236	0	0.672317	0.65289	0	0.594344	0.31042	0	0.604282	0.37693	0	.	.	3.06	3.06	0.34374	-0.763000	0.04846	-0.141000	0.11517	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.952000	0.50033	0.0:1.0:0.0:0.0	9.839	0.40157	952	0.10565	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2014.98	35	chr19	58562353	.	C	T	2014.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.570;DP=982;ExcessHet=0.0000;FS=3.993;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.19;ReadPosRankSum=0.182;SOR=1.058	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1065	20	0	1	0
chr20	96130	96130	C	T	exonic	DEFB125	.	nonsynonymous SNV	DEFB125:NM_153325:exon2:c.C184T:p.H62Y,	.	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.0	B	0.0	B	0.001	N	1.000	N	0	N	2.96	T	-0.986	T	0.014	T	0.047	-1.668	0.012	-5.86	-2.182	-2.347	9.641	0.012	0.000744938269994	0.0022	0.000399361	0.0016	9.61e-05	0.0006	0	0.0002	0.0024	0	0.0013	0.0014424	223	154602	rs41276376	0.0017	0.0017	0.0017	0.0018	0.0020	0.0017	0.0016	0.0019	0.0019	0.0005	0.0007	0	0	0.0003	0.0007	0.0020	0.0013	0.0015	0.0013	0.0013	0.0014	0.0012	0.0025	0.0012	0.0011	0.0022	0.0020	0.0003	0	0.0007	0	0	0.0002	0	0.0025	0	0.0012	0.676	0.04482	T	0.67	0.06305	T	0.0	0.02946	B	0.0	0.01387	B	0.000602	0.00648	N	4.085780	1	0.08975	N	-0.205	0.04094	N	2.96	0.09542	T	-0.08	0.08187	N	0.117	0.10626	-0.9856	0.33687	T	0.014	0.05705	T	10	0.006183088	0.00139	T	7.45E-4	0.00510	T	0.012	0.01476	.	.	0.0138822411134	0.00435	0.08534869898014198	0.08468	0.0833169642222	0.09392	0.378685534	0.22069	T	0.013655	0.11770	T	-0.770688	0.00013	T	-0.885983	0.00606	T	0.000453040018380826	0.00004	T	0.265773	0.04346	T	0.019688442	0.00505	0.033616867	0.02287	0.019688442	0.00505	0.033616867	0.02286	-3.5	0.16431	T	.	.	0.087	0.11317	B	.	.	-1.943285	0.00115	0.002	0.25900943372472163	0.01216	0.00176	0.01036	N	AEFGBI	0.017124	0.00429	N	-1.90008878694186	0.00343	0.01474087	-1.98833333924982	0.00324	0.0143131	0.00641900151797252	0.11212	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.93	-5.86	0.02114	-2.640000	0.00937	-5.631000	0.01650	-0.801000	0.03157	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5671:0.2921:0.1407	9.641	0.39004	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1301.98	35	chr20	96130	.	C	T	1301.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=840;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.24;ReadPosRankSum=0.242;SOR=0.715	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1258	20	0	1	0
chr20	257780	257780	T	A	exonic	DEFB132	.	startloss	DEFB132:NM_207469:exon1:c.T2A:p.M1?,	.	.	447	1072	3	0	0	3	0.0013973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.001	D	1.000	D	.	.	1.93	T	-0.877	T	0.148	T	0.814	1.269	10.14	4.26	1.919	1.666	9.969	0.366	0.0258587880263	0.0002	0.000399361	0.0012	0.0005	0.0070	0	0	0.0006	0.0077	0.0003	0.0008861	137	154602	rs188183503	0.0006	0.0006	0.0006	0.0005	0.0040	0.0005	0.0005	0.0036	0.0034	0.0007	0.0040	0	0	1.881e-05	0.0030	0.0005	0.0013	0.0001	0.0018	0.0013	0.0017	0.0020	0.0069	0.0016	0.0015	0.0057	0.0052	0.0018	0	0.0069	0	0	0.0002	0.0213	0.0010	0.0046	0.0003	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000626	0.42799	D	0.000000	1	0.81001	D	.	.	.	1.93	0.22881	T	-6.0	0.89534	D	0.835	0.83066	-0.8771	0.49989	T	0.148	0.47380	T	9	0.07539418	0.11648	T	0.025859	0.48807	D	0.366	0.68582	.	.	0.452264262256	0.44847	0.7616351401325319	0.76111	.	.	.	.	.	0.139932	0.47421	T	-0.251845	0.13873	T	-0.133306	0.60693	T	0.10121964496522	0.12491	T	0.9	0.65058	D	0.91155255	0.92439	0.9048207	0.95319	0.91155255	0.92441	0.9048207	0.95320	-10.805	0.78577	D	.	.	.	.	.	.	.	2.508235	0.32389	19.03	0.93721798785588084	0.23645	0.68369	0.33776	D	AEFBHCI	0.015611	0.00307	N	0.335465208140884	0.57977	3.967474	0.244520267645349	0.52337	3.409325	0.996626136584555	0.34876	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.26	4.26	0.49832	1.664000	0.37055	1.749000	0.28460	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.082000	0.17360	0.0:0.0:0.0:1.0	9.969	0.40916	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1771.98	43	chr20	257780	.	T	A	1771.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=929;ExcessHet=0.0000;FS=0.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=0.522;SOR=0.620	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1453	20	0	1	0
chr20	297779	297779	G	A	exonic	ZCCHC3	.	nonsynonymous SNV	ZCCHC3:NM_033089:exon1:c.G193A:p.E65K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.023	B	0.01	B	0.028	N	0.998	N	0.345	N	.	.	-1.040	T	0.057	T	0.202	1.936	12.43	2.98	0.963	3.247	6.724	0.062	0.728242851709	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1388464402	3.286e-06	6.84e-06	1.608e-06	5.038e-06	3.678e-05	7.7e-07	5.2e-07	8.1e-07	2.2e-07	0	0	0	3.678e-05	0	0	3.032e-06	0	0	6.615e-06	6.574e-06	0	1.354e-05	2.424e-05	0	0	.	.	2.424e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.318	0.19246	T	0.023	0.18885	B	0.01	0.14941	B	0.028423	0.25603	N	0.259107	0.997828	0.22489	N	0	0.06538	N	.	.	.	.	.	.	0.19	0.20793	-1.0398	0.17374	T	0.057	0.23866	T	9	0.1018818	0.18640	T	0.728243	0.97810	D	.	.	0.159	0.06287	0.350524144436	0.34660	0.21459699081414163	0.21375	.	.	0.865006923676	0.91847	D	0.017481	0.14257	T	-0.0426791	0.45550	T	-0.299082	0.44821	T	0.139663994179802	0.16246	T	0.562444	0.19755	T	0.07380251	0.16517	0.16594154	0.38363	0.07380251	0.16517	0.16594154	0.38362	-4.773	0.34275	T	.	.	0.131	0.28174	B	.	.	2.670294	0.34811	19.73	0.98868868700685797	0.47615	0.53887	0.29481	D	AEFDBHCI	0.056830	0.10537	N	-0.561835070332382	0.20113	1.057972	-0.494233203295716	0.22311	1.211254	0.99999990254477	0.74766	0.242642	0.04205	2	0.484254	0.07192	0	0.391439	0.06340	0	0.621717	0.48901	0	.	.	3.96	2.98	0.33575	0.840000	0.27253	5.045000	0.46946	0.560000	0.28382	0.125000	0.23262	1.000000	0.68203	0.861000	0.40843	0.2213:0.0:0.7787:0.0	6.724	0.22533	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	589.98	58	chr20	297779	.	G	A	589.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.287;DP=748;ExcessHet=0.0000;FS=2.234;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.17;ReadPosRankSum=0.399;SOR=0.670	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,826	20	0	1	0
chr20	427472	427472	G	A	exonic	RBCK1	.	nonsynonymous SNV	RBCK1:NM_001323958:exon7:c.G679A:p.V227I	Polyglucosan body myopathy 1 with or without immunodeficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	446236	Polyglucosan_body_myopathy_type_1|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0014389,MedGen:C4014605,OMIM:615895,Orphanet:329173,Orphanet:397937|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.27	T	0.295	B	0.016	B	0.517	N	1.000	N	1.01	L	-1.41	T	-0.913	T	0.261	T	0.083	1.608	11.34	-0.538	-0.133	-0.128	7.349	0.118	0.0145325579485	.	.	3.298e-05	0	0	0.0002	0	3e-05	0	0	3.88e-05	6	154602	rs538961301	6.022e-05	6.02e-05	7.081e-05	4.952e-05	0.0001	4.963e-05	4.628e-05	5.797e-05	5.366e-05	0.0001	6.709e-05	0	5.038e-05	0	0	7.104e-05	0	0	9.202e-05	9.194e-05	8.995e-05	9.418e-05	0.0002	5.529e-05	4.366e-05	9.048e-05	7.012e-05	4.827e-05	0	0	0	0	9.422e-05	0	0.0002	0	0	0.425	0.28900	T	0.211	0.26631	T	0.001	0.32424	B	0.003	0.17743	B	0.517240	0.11781	N	0.791041	1	0.08975	N	0.895	0.22405	L	-1.41	0.80560	T	-0.35	0.12847	N	0.109	0.14763	-0.9135	0.46415	T	0.261	0.63143	T	10	0.060768366	0.07515	T	0.014533	0.34707	T	0.118	0.32913	.	.	0.514472708086	0.51089	0.2926267430239313	0.29175	0.335875025111	0.35593	0.377890646458	0.21956	T	0.279719	0.65241	T	-0.33669	0.05621	T	-0.45698	0.26929	T	0.00853243320947929	0.00104	T	0.860814	0.55431	D	0.017145239	0.00250	0.030895151	0.01603	0.017145239	0.00249	0.030895151	0.01603	-4.786	0.34428	T	0.17607287725595686	0.22449	0.064	0.03026	B	.;.;.;.	.;.;.;.	0.732501	0.11018	7.675	0.94910288687132149	0.25773	0.09417	0.15177	N	AEFBHCI	0.061098	0.11657	N	-0.84180218514122	0.12253	0.5960922	-0.849954153591957	0.13289	0.6885428	0.790263928127908	0.24003	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.75	-0.538	0.11275	-0.102000	0.10926	-1.024000	0.06570	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.971000	0.54645	0.4815:0.0:0.5185:0.0	7.349	0.25856	763	0.50172	IBR domain;IBR domain;.;IBR domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	685.98	33	chr20	427472	.	G	A	685.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.852;DP=775;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.54;ReadPosRankSum=-5.070e-01;SOR=0.741	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1279	20	0	1	0
chr20	845461	845461	G	T	exonic	FAM110A	.	nonsynonymous SNV	FAM110A:NM_031424:exon1:c.G657T:p.L219F	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.981	D	0.000	D	0.975	D	2.02	M	0.35	T	-0.457	T	0.292	T	0.3	4.010	20.6	4.58	2.391	0.870	11.349	0.284	0.0348766037945	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1483719349	2.053e-06	2.052e-06	1.362e-06	2.751e-06	0.0003	5.5e-07	1.5e-07	6.096e-05	2.522e-05	0	2.238e-05	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.016	0.60972	D	0.999	0.77913	D	0.981	0.75168	D	0.000260	0.46924	D	0.080828	0.975243	0.39172	D	2.395	0.69210	M	0.35	0.58029	T	-2.91	0.60982	D	0.206	0.22870	-0.4569	0.70171	T	0.292	0.66412	T	10	0.30593428	0.48107	T	0.034877	0.55972	D	0.284	0.60219	0.534	0.64293	0.422646075125	0.41881	0.6796764842482914	0.67906	1.88169425926	0.92614	0.612136244774	0.54618	T	0.161349	0.50556	T	-0.0664227	0.41897	T	-0.333188	0.41113	T	0.837412893772125	0.49118	D	0.671133	0.27986	T	0.22840512	0.45559	0.35687208	0.61191	0.22840512	0.45559	0.35687208	0.61191	-10.739	0.78207	D	0.24321197614653056	0.32943	0.183	0.39630	B	.;.;.;.;.	.;.;.;.;.	3.884069	0.56469	23.7	0.99879896645488708	0.95653	0.84124	0.43208	D	AEFBCI	0.487263	0.52608	N	0.490500041669287	0.66534	4.962554	0.441516421737284	0.64172	4.666619	0.999999976312199	0.74766	0.766844	0.99359	0	0.662677	0.63036	0	0.851219	0.99655	0	0.669	0.65921	0	.	.	4.58	4.58	0.56077	1.226000	0.32167	3.335000	0.37659	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.702000	0.34203	0.0:0.0:0.8184:0.1816	11.349	0.48816	934	0.15400	Centrosome-associated, FAM110, C-terminal domain;Centrosome-associated, FAM110, C-terminal domain;Centrosome-associated, FAM110, C-terminal domain;Centrosome-associated, FAM110, C-terminal domain;Centrosome-associated, FAM110, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1392.98	41	chr20	845461	.	G	T	1392.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.202e+00;DP=971;ExcessHet=0.0000;FS=1.635;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=0.086;SOR=0.496	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	20	0	1	0
chr20	845565	845565	T	C	exonic	FAM110A	.	nonsynonymous SNV	FAM110A:NM_031424:exon1:c.T761C:p.V254A	.	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.84	T	0.0	B	0.002	B	0.168	N	1.000	N	0.345	N	1.07	T	-1.017	T	0.032	T	0.009	2.218	13.37	2.69	0.563	-0.156	4.724	0.055	.	.	0.00658946	0.0036	0.0001	0.0003	0.0127	0	3.107e-05	0.0046	0.0188	0.0033053	511	154602	rs191347965	0.0015	0.0015	0.0010	0.0020	0.0186	0.0014	0.0014	0.0178	0.0175	0.0001	8.949e-05	0	0.0082	0	0.0005	2.428e-05	0.0031	0.0186	0.0012	0.0012	0.0009	0.0015	0.0185	0.0010	0.0010	0.0154	0.0142	0.0002	0	0.0002	0	0.0120	0	0	2.943e-05	0.0071	0.0185	0.893	0.02465	T	0.745	0.04895	T	0.0	0.02946	B	0.002	0.06944	B	0.167512	0.17474	N	0.532229	1	0.08975	N	0.69	0.16971	N	1.07	0.39586	T	1.31	0.00936	N	0.013	0.00142	-1.0169	0.24722	T	0.032	0.13942	T	10	0.0020591915	0.00029	T	.	.	.	0.055	0.15663	.	.	0.043077524339	0.03247	0.22275729270606417	0.22190	0.906982577628	0.70879	0.56493806839	0.47963	T	0.003464	0.02869	T	-0.68532	0.00045	T	-0.742255	0.03796	T	0.00137333972719998	0.00014	T	0.40366	0.10339	T	0.019020246	0.00426	0.04527077	0.06052	0.019020246	0.00426	0.04527077	0.06052	-4.002	0.23834	T	0.09640744764139532	0.06668	0.054	0.00328	B	.;.;.;.;.	.;.;.;.;.	0.628987	0.09975	6.729	0.72017665297256062	0.09827	0.03145	0.08104	N	AEFDBCI	0.035154	0.04478	N	-1.08931529135313	0.06838	0.3159812	-0.981569933174632	0.10199	0.5121832	0.999977277113865	0.50053	0.766844	0.99359	0	0.685571	0.66316	0	0.851219	0.99655	0	0.463824	0.07026	1	.	.	4.64	2.69	0.30923	0.315000	0.19200	0.616000	0.20081	-0.349000	0.05595	0.004000	0.16614	0.123000	0.22922	0.312000	0.24784	0.1708:0.6396:0.0:0.1896	4.724	0.12312	934	0.15400	Centrosome-associated, FAM110, C-terminal domain;Centrosome-associated, FAM110, C-terminal domain;Centrosome-associated, FAM110, C-terminal domain;Centrosome-associated, FAM110, C-terminal domain;Centrosome-associated, FAM110, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1700.98	41	chr20	845565	.	T	C	1700.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=958;ExcessHet=0.0000;FS=2.135;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=0.642;SOR=0.934	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	20	0	1	0
chr20	890238	890238	C	T	exonic	ANGPT4	.	nonsynonymous SNV	ANGPT4:NM_001322809:exon2:c.G440A:p.R147H	.	.	424	1092	6	0	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.004	B	0.001	B	0.508	N	0.989	N	1.495	L	2.52	T	-1.004	T	0.019	T	0.14	2.293	13.63	-0.068	-0.157	0.731	4.164	0.028	0.0046933208689	0.0035	0.00179712	0.0039	0.0010	0.0022	0	0.0083	0.0051	0.0055	0.0018	0.0037645	582	154602	rs150123876	0.0039	0.0039	0.0039	0.0039	0.0043	0.0038	0.0038	0.0042	0.0042	0.0010	0.0015	0.0014	0	0.0071	0.0009	0.0043	0.0033	0.0019	0.0033	0.0033	0.0033	0.0033	0.0050	0.0031	0.0030	0.0045	0.0043	0.0008	0.0088	0.0010	0.0012	0	0.0092	0	0.0050	0.0019	0.0012	0.087	0.32453	T	0.06	0.45744	T	0.001	0.07471	B	0.001	0.04355	B	0.507830	0.11877	N	0.687022	0.989188	0.24326	N	1.53	0.38800	L	2.52	0.14160	T	-3.11	0.63669	D	0.227	0.25499	-1.0040	0.28755	T	0.019	0.07800	T	10	0.007361084	0.00167	T	0.004693	0.11660	T	0.028	0.06331	.	.	0.502379540653	0.49875	0.18195855122437854	0.18114	0.242897988104	0.26791	0.206814706326	0.00683	T	0.199505	0.55681	T	-0.645034	0.00078	T	-0.69837	0.05915	T	0.0272338638082341	0.01577	T	0.771723	0.40231	T	0.045715835	0.07531	0.05397161	0.09194	0.045715835	0.07531	0.05397161	0.09193	-3.201	0.12493	T	.	.	0.069	0.03231	B	.	.	1.179290	0.15696	12.04	0.98657037356455746	0.44275	0.27886	0.23402	N	AEFDBI	0.144143	0.26703	N	-0.63184639778766	0.17992	0.9305961	-0.60301050671422	0.19415	1.041567	0.86135284929584	0.25232	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.38	-0.0683	0.13089	0.994000	0.29294	-1.587000	0.05113	-0.841000	0.02792	0.278000	0.25122	0.000000	0.08366	0.209000	0.22154	0.321:0.4974:0.0:0.1817	4.164	0.09760	964	0.07719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	523.98	77	chr20	890238	.	C	T	523.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.084;DP=798;ExcessHet=0.0000;FS=0.898;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.80;ReadPosRankSum=2.79;SOR=0.578	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr20	1163147	1163147	C	T	exonic	PSMF1	.	nonsynonymous SNV	PSMF1:NM_001323407:exon5:c.C305T:p.P102L	.	.	441	1080	1	0	0	1	0.000462749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.999	D	0.000	D	1.000	D	2.28	M	1.32	T	-0.353	T	0.360	T	0.777	2.228	13.41	3.31	0.779	6.242	12.889	0.293	0.0769065958445	0.0007	0.000399361	0.0006	0.0006	0.0007	0	0	0.0009	0.0011	0.0001	0.0006727	104	154602	rs147039294	0.0006	0.0006	0.0006	0.0006	0.0015	0.0006	0.0006	0.0012	0.0011	0.0002	0.0015	0.0002	0	3.744e-05	0.0010	0.0007	0.0007	0	0.0006	0.0006	0.0006	0.0005	0.0012	0.0005	0.0004	0.0008	0.0006	0.0002	0	0.0012	0	0	0	0	0.0009	0.0005	0.0002	0.023	0.59928	D	0.056	0.70582	T	0.958	0.54977	D	0.698	0.54098	P	0.000001	0.84330	D	0.057580	1	0.81001	D	2.95	0.84923	M	1.32	0.35960	T	-6.3	0.90937	D	0.915	0.92317	-0.3535	0.73452	T	0.360	0.72193	T	10	0.06127751	0.07657	T	0.076907	0.72645	D	0.293	0.61272	.	.	0.402043589563	0.39814	0.764729780768161	0.76421	0.399169766946	0.40951	0.64291447401	0.58979	T	0.111325	0.51739	T	-0.196708	0.21279	T	-0.0625979	0.66150	T	0.115513779222965	0.13986	T	0.854215	0.54045	D	0.54618025	0.69742	0.5427955	0.73574	0.54618025	0.69744	0.5427955	0.73575	-7.315	0.56302	T	.	.	0.240	0.60587	B	.;.;.;.	.;.;.;.	5.127127	0.85786	28.7	0.95976633030307412	0.28346	0.98505	0.83492	D	AEFDBHI	0.726642	0.67524	D	0.278882079597147	0.55079	3.672303	0.227979591586721	0.51405	3.323384	0.999988447065978	0.51787	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	3.31	0.37025	6.463000	0.73445	5.978000	0.52118	-0.218000	0.08083	1.000000	0.71638	1.000000	0.68203	0.827000	0.38976	0.2949:0.7051:0.0:0.0	12.889	0.57455	917	0.20147	PI31 proteasome regulator, C-terminal;PI31 proteasome regulator, C-terminal;PI31 proteasome regulator, C-terminal;PI31 proteasome regulator, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	851.98	33	chr20	1163147	.	C	T	851.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=776;ExcessHet=0.0000;FS=0.783;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.06;ReadPosRankSum=0.802;SOR=0.796	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1097	20	0	1	0
chr20	1181366	1181366	G	T	exonic	TMEM74B	.	nonsynonymous SNV	TMEM74B:NM_001304749:exon2:c.C181A:p.P61T	.	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.055	B	0.02	B	0.063	N	0.994	N	1.59	L	0.93	T	-1.049	T	0.074	T	0.186	-0.055	3.731	1.04	0.446	0.426	3.342	0.032	0.00924022937466	0.0002	.	6.327e-05	0	0	0	0	7.826e-05	0.0013	0.0001	5.17e-05	8	154602	rs377008201	3.348e-05	3.283e-05	3.647e-05	3.04e-05	0.0004	2.58e-05	2.312e-05	8.513e-05	6.022e-05	0	0.0002	0	0	0	0.0004	3.053e-05	5.194e-05	2.603e-05	5.913e-05	5.909e-05	3.852e-05	8.071e-05	0.0001	3.077e-05	2.21e-05	3.761e-05	2.574e-05	0	0	0.0001	0	0	0	0.0032	8.818e-05	0	0	0.029	0.54683	D	0.05	0.48855	T	0.055	0.22733	B	0.02	0.19048	B	0.062595	0.22087	N	0.327872	0.994412	0.23523	N	0.345	0.11182	N	0.93	0.46412	T	-1.64	0.49519	N	0.219	0.24510	-1.0487	0.14761	T	0.074	0.29802	T	10	0.0684503	0.09681	T	0.00924	0.24272	T	0.032	0.07718	.	.	0.101711395817	0.09552	0.4424026483572134	0.44157	0.0831964405171	0.09381	0.324615240097	0.14120	T	0.062931	0.32044	T	-0.355348	0.04400	T	-0.545555	0.17754	T	0.0244512506327522	0.01202	T	0.654835	0.32034	T	0.052346006	0.09748	0.05578219	0.09847	0.052346006	0.09748	0.05578219	0.09846	-4.814	0.34754	T	.	.	0.070	0.04041	B	.;.	.;.	1.060856	0.14425	11.00	0.94774523189524951	0.25497	0.40240	0.26392	N	AEFDBI	0.110407	0.21895	N	-0.63145175632421	0.18004	0.9312869	-0.647076905332657	0.18291	0.9764467	7.41957588823626E-4	0.07741	0.646311	0.45356	0	0.514364	0.08380	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.29	1.04	0.19220	0.438000	0.21277	2.246000	0.31650	0.676000	0.76740	0.086000	0.22486	1.000000	0.68203	0.086000	0.17578	0.3592:0.2045:0.4363:0.0	3.342	0.06704	915	0.20917	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2544.98	35	chr20	1181366	.	G	T	2544.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.13;DP=898;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=-1.797e+00;SOR=0.710	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1306	20	0	1	0
chr20	1305875	1305875	G	A	exonic	SNPH	.	nonsynonymous SNV	SNPH:NM_014723:exon6:c.G1306A:p.A436T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.936	P	0.553	P	0.006	N	0.958	N	0.69	N	.	.	-1.054	T	0.074	T	0.497	3.486	17.83	4.24	2.187	2.831	10.177	0.071	0.0149621117722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.209e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.035	0.52727	D	0.936	0.52359	P	0.553	0.49313	P	0.005681	0.32605	N	0.249633	0.95791	0.26243	N	1.355	0.33814	L	.	.	.	-0.68	0.21860	N	0.421	0.46555	-1.0540	0.13305	T	0.074	0.30023	T	9	0.20192212	0.36292	T	0.014962	0.35409	T	0.071	0.20720	0.335	0.32329	0.176862962021	0.17281	0.4766028885075292	0.47580	1.17185451117	0.79788	0.626488447189	0.56647	T	0.224742	0.58927	T	-0.00788311	0.50561	T	-0.2491	0.49905	T	0.850031077861786	0.50168	D	0.938806	0.78595	D	0.06968594	0.15287	0.093123786	0.21980	0.06968594	0.15286	0.093123786	0.21979	-1.827	0.11446	T	.	.	0.521	0.65506	A	.;.;.;.	.;.;.;.	4.051531	0.60059	24.2	0.99889464162481689	0.96359	0.57092	0.30286	D	AEFBI	0.083325	0.16881	N	0.0678708847187107	0.44968	2.761371	0.0369067633077999	0.41443	2.489898	0.210490655904095	0.18233	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.24	4.24	0.49486	2.563000	0.45585	11.779000	0.96061	0.672000	0.70159	0.223000	0.24568	1.000000	0.68203	0.238000	0.22948	0.0929:0.0:0.9071:0.0	10.177	0.42122	885	0.28214	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	763.98	48	chr20	1305875	.	G	A	763.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.00;DP=807;ExcessHet=0.0000;FS=2.415;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.92;ReadPosRankSum=1.59;SOR=0.554	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	20	0	1	0
chr20	1552020	1552020	T	G	exonic	SIRPD	.	nonsynonymous SNV	SIRPD:NM_178460:exon2:c.A92C:p.H31P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.494	P	0.17	B	0.162	U	1.000	N	0.69	N	-0.06	T	-0.979	T	0.140	T	0.379	1.148	9.676	0.911	0.059	0.167	3.41	0.064	0.00379540286764	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866429642	3.423e-06	3.42e-06	4.086e-06	2.752e-06	0.0003	1e-06	7.3e-07	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	8.998e-07	1.657e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.117	0.48080	T	0.494	0.37037	P	0.17	0.35299	B	0.162353	0.03048	U	2.036330	1	0.08975	N	1.15	0.29295	L	-0.06	0.63568	T	-1.39	0.34397	N	0.116	0.12055	-0.9786	0.35322	T	0.140	0.45828	T	10	0.2500636	0.42327	T	0.003795	0.08837	T	0.064	0.18567	0.407	0.44066	0.276482976112	0.27267	0.38029547572217576	0.37944	0.251371934609	0.27716	0.308401733637	0.11666	T	0.021797	0.16915	T	-0.0949454	0.37259	T	-0.374159	0.36403	T	0.261879444122314	0.23397	T	0.341666	0.07715	T	0.58575094	0.71921	0.3329144	0.59134	0.58575094	0.71922	0.3329144	0.59134	-5.13	0.38221	T	.	.	0.114	0.22825	B	.;.;.	.;.;.	1.670061	0.21294	15.14	0.70043363426890071	0.09167	0.03727	0.09019	N	AEFBI	0.079402	0.16036	N	-0.831756473631622	0.12503	0.6098716	-0.943075516119051	0.11084	0.562521	0.00264352456749819	0.09600	0.516011	0.20929	0	0.610034	0.51514	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.36	0.911	0.18471	-0.017000	0.12529	-1.001000	0.06646	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.1324:0.2372:0.6304	3.41	0.06928	946	0.12043	Immunoglobulin-like domain;Immunoglobulin-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1383.98	44	chr20	1552020	.	T	G	1383.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.137e+00;DP=950;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=-1.045e+00;SOR=0.662	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,102,1530	20	0	1	0
chr20	1571818	1571818	C	T	exonic	SIRPB1	.	nonsynonymous SNV	SIRPB1:NM_006065:exon3:c.G653A:p.R218H,	.	.	410	1110	2	0	0	2	0.00090009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.009	B	0.008	B	0.257	N	1.000	N	0.855	L	4.08	T	-0.919	T	0.004	T	0.034	0.689	7.682	-1.19	-0.369	-0.397	10.217	0.032	.	0.0079	0.0071885	0.0023	0.0234	0.0016	0	0	0.0002	0.0022	6.056e-05	0.0021539	333	154602	rs61731659	0.0008	0.0008	0.0009	0.0007	0.0234	0.0008	0.0007	0.0221	0.0215	0.0234	0.0020	0	0	1.872e-05	0.0017	0.0001	0.0020	3.478e-05	0.0069	0.0069	0.0070	0.0067	0.0227	0.0065	0.0064	0.0215	0.0210	0.0227	0	0.0050	0	0	0	0.0102	0.0002	0.0071	0	0.262	0.22312	T	0.588	0.25827	T	0.009	0.15093	B	0.008	0.13708	B	0.257209	0.03685	N	1.514170	1	0.08975	N	1.715	0.44382	L	4.08	0.03408	T	-0.9	0.25770	N	0.164	0.17278	-0.9190	0.45689	T	0.004	0.01400	T	10	0.006548524	0.00148	T	.	.	.	0.032	0.07718	.	.	0.0297737177859	0.01360	0.3013604432488371	0.30049	0.16287014155	0.18381	0.303968250751	0.10996	T	0.008747	0.08010	T	-0.744169	0.00019	T	-0.824138	0.01371	T	0.00189268095128675	0.00019	T	0.0890911	0.00656	T	0.027449884	0.01938	0.035452522	0.02801	0.027449884	0.01937	0.035452522	0.02800	-10.538	0.77065	D	.	.	0.084	0.09530	B	.;.	.;.	1.116243	0.15017	11.52	0.95021799664598872	0.26006	0.00355	0.01825	N	AEFBI	0.032286	0.03615	N	-1.50514542159388	0.01816	0.07959083	-1.58371952321115	0.01755	0.07981776	0.120106336390504	0.16860	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.47	-1.19	0.09091	-0.169000	0.09900	-5.036000	0.01876	-1.981000	0.00462	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3978:0.6022:0.0	10.217	0.42350	946	0.12043	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	7060.98	38	chr20	1571818	.	C	T	7060.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=1509;ExcessHet=0.0000;FS=3.235;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.87;MQRankSum=-4.300e-02;QD=12.11;ReadPosRankSum=0.305;SOR=0.487	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr20	1636340	1636340	G	T	exonic	SIRPG	.	nonsynonymous SNV	SIRPG:NM_001039508:exon3:c.C596A:p.T199K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.001	B	0.001	B	0.078	N	1.000	N	0	N	6.25	T	-0.913	T	0.001	T	0.152	-0.698	0.979	-2.5	-0.244	-0.511	2.942	0.024	0.00142585498812	0.0015	0.00119808	0.0007	0.0068	0.0008	0	0	0.0001	0.0011	0	0.0007115	110	154602	rs142262583	0.0003	0.0003	0.0004	0.0003	0.0062	0.0003	0.0003	0.0055	0.0052	0.0062	0.0014	7.652e-05	0	0	0.0014	0.0001	0.0010	1.159e-05	0.0019	0.0019	0.0020	0.0019	0.0064	0.0018	0.0017	0.0058	0.0055	0.0064	0	0.0008	0.0003	0	0	0	0.0002	0.0009	0	0.835	0.02974	T	0.787	0.04234	T	0.001	0.07471	B	0.001	0.04355	B	0.077629	0.02319	N	1.994030	1	0.08975	N	-0.515	0.02571	N	6.25	0.00565	T	0.38	0.03579	N	0.078	0.06059	-0.9127	0.46518	T	0.001	0.00438	T	10	0.005250871	0.00115	T	0.001426	0.02113	T	0.024	0.04979	.	.	0.146414634003	0.14194	0.3521355004791907	0.35127	0.0242897630301	0.02464	0.256346166134	0.04465	T	0.004011	0.03423	T	-0.688432	0.00043	T	-0.757517	0.03202	T	0.000564949303687101	0.00005	T	0.0267973	0.00163	T	0.06786758	0.14735	0.062198788	0.12131	0.06786758	0.14735	0.062198788	0.12131	-5.431	0.46604	T	.	.	0.090	0.16582	B	.;.;.;.	.;.;.;.	0.187917	0.05743	2.189	0.46850361092896797	0.03784	0.00174	0.01026	N	AEFDBI	0.019191	0.00645	N	-1.25776783328362	0.04198	0.1890222	-1.34717514595267	0.03839	0.1799031	0.0407320937018434	0.14453	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	2.09	-2.5	0.06015	-1.080000	0.03517	-4.101000	0.02342	0.526000	0.24426	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1845:0.0:0.3113:0.5043	2.942	0.05478	958	0.09170	.;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	5251.98	40	chr20	1636340	.	G	T	5251.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.25;DP=3575;ExcessHet=0.0000;FS=3.198;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=0.340;SOR=0.841	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1341	20	0	1	0
chr20	2102135	2102135	G	C	exonic	STK35	.	nonsynonymous SNV	STK35:NM_080836:exon1:c.G254C:p.G85A,	.	.	442	1018	58	4	0	66	0.0313987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	0	N	-0.27	T	-1.000	T	0.088	T	0.108	0.736	7.910	-1.58	-0.129	0.219	4.043	0.048	.	.	0.00499201	0.0290	0	0.0312	0	.	0.0226	0	0.0336	0.0022509	348	154602	rs35569160	0.0093	0.0086	0.0090	0.0096	0.0207	0.0091	0.0091	0.0172	0.0168	0.0013	0.0037	0.0145	3.46e-05	0.0030	0.0207	0.0093	0.0106	0.0181	0.0065	0.0065	0.0067	0.0064	0.0183	0.0062	0.0061	0.0152	0.0140	0.0017	0.0022	0.0057	0.0130	0.0002	0.0028	0.0171	0.0096	0.0062	0.0183	0.969	0.02057	T	0.955	0.02582	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.20048	N	0.345	0.11182	N	-0.27	0.67367	T	-0.31	0.12099	N	0.087	0.06454	-1.0002	0.29860	T	0.088	0.33885	T	9	0.0032199621	0.00055	T	.	.	.	0.048	0.13305	.	.	0.550461726676	0.54703	0.16462568001023903	0.16382	1.13840482688	0.78847	0.568786382675	0.48506	T	0.003846	0.03252	T	-0.455329	0.01050	T	-0.411889	0.32008	T	0.0035260295607513	0.00037	T	0.478252	0.14398	T	0.026215747	0.01651	0.049031965	0.07407	0.026215747	0.01651	0.049031965	0.07407	-3.411	0.15204	T	.	.	0.065	0.01859	B	.	.	0.154691	0.05464	1.931	0.712979375028716	0.09582	0.12875	0.17532	N	ALL	0.041294	0.06258	N	-1.46821197340051	0.02078	0.09137222	-1.46390537359334	0.02646	0.1220965	0.999999999998893	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	3.98	-1.58	0.08029	-0.011000	0.12659	0.363000	0.17596	-0.212000	0.08331	0.000000	0.06391	0.226000	0.23749	0.044000	0.14658	0.4268:0.1785:0.3947:0.0	4.043	0.09242	806	0.43582	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1148.11	37	chr20	2102135	.	G	C	1148.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.030e-01;DP=808;ExcessHet=0.1072;FS=1.762;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=1.74;SOR=0.962	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1392	19	0	2	0
chr20	2432517	2432517	G	C	exonic	TGM6	.	nonsynonymous SNV	TGM6:NM_001254734:exon12:c.G1861C:p.G621R	Spinocerebellar ataxia 35, Autosomal dominant	.	4	1470	45	3	0	51	0.0170512	.	.	349763	not_provided|not_specified|Spinocerebellar_ataxia_type_35	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013485,MedGen:C3888031,OMIM:613908,Orphanet:276193	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.19	T	0.101	B	0.089	B	0.169	N	1.000	N	1.795	L	-0.19	T	-0.918	T	0.184	T	0.288	0.848	8.426	1.86	0.342	-0.028	6.860	0.033	.	0.0016	0.00139776	0.0032	0.0004	0.0013	0.0001	0.0002	0.0025	0.0011	0.0117	0.0028137	435	154602	rs138807504	0.0019	0.0019	0.0015	0.0023	0.0124	0.0018	0.0018	0.0118	0.0115	0.0002	0.0018	0.0147	2.519e-05	5.616e-05	0.0097	0.0008	0.0034	0.0124	0.0016	0.0016	0.0016	0.0017	0.0099	0.0015	0.0014	0.0077	0.0069	0.0002	0	0.0022	0.0159	0.0002	0	0.0068	0.0014	0.0047	0.0099	0.017	0.51248	D	0.166	0.30828	T	0.101	0.25775	B	0.089	0.29769	B	0.169227	0.17425	N	0.634407	0.999952	0.19072	N	.	.	.	-0.19	0.65931	T	-2.66	0.56945	D	0.107	0.09207	-0.9185	0.45756	T	0.184	0.53300	T	10	0.0043498874	0.00088	T	.	.	.	0.033	0.08068	0.346	0.34112	0.327686398923	0.32377	0.2536032118238763	0.25274	0.108388790355	0.12225	0.329630196095	0.14878	T	0.028211	0.20489	T	-0.297241	0.08923	T	-0.189354	0.55651	T	0.0096409445773623	0.00125	T	0.587141	0.21465	T	0.2186705	0.44381	0.16745007	0.38630	0.1864944	0.40060	0.14031756	0.33450	-3.88	0.22002	T	0.09196841842984388	0.05891	0.146	0.32178	B	.	.	0.885631	0.12589	9.117	0.82264938501959017	0.14103	0.10581	0.16048	N	AEFBI	0.094015	0.19016	N	-0.67969589964495	0.16601	0.8472733	-0.664644720180829	0.17848	0.9508148	1.9370839959032E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.87	1.86	0.24489	-0.061000	0.11650	0.546000	0.19377	-0.127000	0.13314	0.004000	0.16614	0.043000	0.21642	0.612000	0.31691	0.2898:0.0:0.7102:0.0	6.860	0.23241	818	0.41518	Transglutaminase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.04762	2513.11	101	chr20	2432517	.	G	C	2513.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.041e+00;DP=1489;ExcessHet=0.1072;FS=0.509;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.08;ReadPosRankSum=0.390;SOR=0.766	GT:AD:DP:GQ:PL	0/0:78,0:78:99:0,120,1800	19	0	2	0
chr20	2484294	2484294	G	A	exonic	ZNF343	.	nonsynonymous SNV	ZNF343:NM_001282498:exon4:c.C397T:p.P133S	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	T	0.002	B	0.004	B	.	.	1.000	N	0.505	N	3.2	T	-0.923	T	0.010	T	0.02	0.114	4.615	-1.83	-0.099	0.410	1.263	0.007	0.00133164561496	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs781313156	3.489e-05	3.489e-05	3.675e-05	3.3e-05	0.0007	2.697e-05	2.438e-05	0.0002	0.0001	0	0	0	0	0	0.0007	4.047e-05	3.311e-05	0	1.314e-05	1.314e-05	1.285e-05	1.346e-05	2.414e-05	2.18e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	1.47e-05	0	0	0.711	0.04032	T	1.0	0.11041	T	0.002	0.09854	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.59	0.15444	N	3.2	0.07236	T	-0.6	0.17834	N	0.013	0.00407	-0.9230	0.45141	T	0.010	0.03582	T	9	0.048047543	0.04204	T	0.001332	0.01885	T	0.007	0.00512	0.236	0.16608	0.0138822411134	0.00435	0.08189157717536968	0.08124	0.0677330139699	0.07574	0.199268162251	0.00436	T	9.39E-4	0.00486	T	-0.536135	0.00353	T	-0.851532	0.00941	T	0.0427689968326025	0.04196	T	0.425957	0.11436	T	0.018439623	0.00366	0.033654477	0.02297	0.018439623	0.00365	0.033654477	0.02297	-3.781	0.20521	T	.	.	0.074	0.06571	B	.;.;.	.;.;.	-0.217586	0.03003	0.454	0.4929923492648714	0.04186	0.02847	0.07602	N	AEFBI	0.023986	0.01416	N	-1.40986112890293	0.02551	0.1128107	-1.45263712382418	0.02746	0.1268837	1.06265170387266E-4	0.05123	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	3.28	-1.83	0.07410	-0.131000	0.10461	0.971000	0.23058	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2539:0.1647:0.4151:0.1663	1.263	0.01884	900	0.24599	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3739.98	34	chr20	2484294	.	G	A	3739.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.76;DP=980;ExcessHet=0.0000;FS=1.436;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=2.19;SOR=0.603	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1455	20	0	1	0
chr20	2613212	2613212	G	C	exonic	TMC2	.	nonsynonymous SNV	TMC2:NM_080751:exon14:c.G1762C:p.V588L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.988	D	0.951	D	0.000	D	1.000	D	0.855	L	-0.07	T	-0.427	T	0.304	T	0.744	4.234	22.0	4.93	2.460	6.494	16.034	0.345	0.026206664894	0.0004	0.000199681	9.919e-05	0.0012	0	0	0	0	0	0	8.41e-05	13	154602	rs139352965	3.558e-05	3.557e-05	4.221e-05	2.889e-05	0.0011	2.763e-05	2.502e-05	0.0008	0.0007	0.0011	8.945e-05	0	0	0	0	0	0.0001	2.319e-05	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	6.54e-05	0	0	0	0	1.47e-05	0.0009	0	0.004	0.65419	D	0.01	0.65728	D	0.988	0.62325	D	0.951	0.68939	D	0.000000	0.84330	D	0.000000	0.999958	0.52396	D	1.23	0.30720	L	-0.07	0.63738	T	-2.45	0.53577	N	0.776	0.77319	-0.4271	0.71160	T	0.304	0.67482	T	10	0.31144148	0.48613	T	0.026207	0.49134	D	0.345	0.66676	0.825	0.93657	0.644949520829	0.64201	0.8129207860076816	0.81248	0.54932072532	0.51839	0.744514465332	0.73637	T	0.048312	0.27980	T	-0.165991	0.25843	T	-0.0675592	0.65800	T	0.129795348455561	0.15363	T	0.961404	0.85511	D	0.55701846	0.70345	0.4032623	0.64786	0.55701846	0.70346	0.4032623	0.64786	-10.917	0.79201	D	.	.	0.325	0.54854	B	.	.	4.915418	0.80911	27.4	0.99784264366297881	0.87043	0.97060	0.72457	D	AEFDBI	0.797835	0.72456	D	0.54981534492074	0.70071	5.447933	0.586103825697737	0.73942	6.053775	0.944332831332012	0.27610	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.542086	0.14980	0	.	.	4.93	4.93	0.64394	6.613000	0.74063	11.855000	0.98181	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	16.034	0.80411	740	0.53092	TMC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1348.98	35	chr20	2613212	.	G	C	1348.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.35;DP=761;ExcessHet=0.0000;FS=0.908;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.74;ReadPosRankSum=-8.570e-01;SOR=0.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1074	20	0	1	0
chr20	2749404	2749404	G	A	exonic	EBF4	.	nonsynonymous SNV	EBF4:NM_001110514:exon9:c.G631A:p.V211M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.926	D	0.001	D	1.000	D	2.585	M	0.67	T	-0.357	T	0.296	T	0.626	4.436	23.6	4.04	2.263	7.507	14.053	0.259	0.0637723009161	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1459748633	3.617e-06	4.788e-06	2.846e-06	4.415e-06	4.675e-06	1.06e-06	7.7e-07	1.37e-06	1e-06	0	0	0	0	0	0	4.675e-06	0	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0.0003	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.01	0.67890	D	0.997	0.70673	D	0.926	0.66095	D	0.000633	0.42799	D	0.000000	0.999986	0.54805	D	2.36	0.67893	M	0.67	0.52187	T	-2.47	0.53898	N	0.636	0.65844	-0.3575	0.73336	T	0.296	0.66745	T	10	0.6154039	0.67677	D	0.063772	0.69072	D	0.259	0.57090	0.444	0.50139	0.918048739934	0.91722	0.5625358511668459	0.56180	1.58769996797	0.88476	0.846562147141	0.89094	D	0.159456	0.62727	T	0.0612173	0.59765	T	-0.149842	0.59257	T	0.904074788093567	0.55744	D	0.990401	0.97232	D	0.35625058	0.57549	0.41001984	0.65274	0.35625058	0.57550	0.41001984	0.65274	-13.019	0.89443	D	.	.	0.947	0.86596	P	.;.;.;.	.;.;.;.	5.395121	0.90367	31	0.99867272182985301	0.94547	0.99109	0.91358	D	AEFDBI	0.921725	0.89563	D	0.739565786167229	0.82226	7.710136	0.667519951951751	0.79923	7.185792	0.999999999908354	0.74766	0.652421	0.48094	0	0.627178	0.54094	0	0.64067	0.45733	0	0.616125	0.45549	0	.	.	4.04	4.04	0.46262	9.868000	0.98461	11.841000	0.97811	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	14.053	0.64269	804	0.43891	Transcription factor COE, DNA-binding domain|Transcription factor COE, DNA-binding domain;Transcription factor COE, DNA-binding domain|Transcription factor COE, DNA-binding domain;Transcription factor COE, DNA-binding domain|Transcription factor COE, DNA-binding domain;Transcription factor COE, DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	701.98	34	chr20	2749404	.	G	A	701.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.794;DP=781;ExcessHet=0.0000;FS=0.887;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.00;ReadPosRankSum=0.863;SOR=0.553	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1297	20	0	1	0
chr20	2815357	2815360	GACT	-	exonic	C20orf141	.	frameshift deletion	C20orf141:NM_080739:exon1:c.173_176del:p.L59Qfs*86	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	9.69e-05	0.0003	0	0	0.0011	0.0012	0.0011	0.0003074	8	26028	rs765507987	0.0015	0.0015	0.0015	0.0014	0.0018	0.0014	0.0014	0.0018	0.0017	0.0002	0.0004	0	0	1.894e-05	0.0007	0.0018	0.0008	0.0007	0.0007	0.0007	0.0008	0.0006	0.0013	0.0006	0.0005	0.0011	0.0010	0.0001	0	0.0003	0	0	0	0	0.0013	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1584.94	33	chr20	2815356	.	GGACT	G	1584.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.000e-03;DP=786;ExcessHet=0.0000;FS=0.874;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.13;ReadPosRankSum=0.228;SOR=0.641	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1017	20	0	1	0
chr20	2815761	2815761	C	T	exonic	C20orf141	.	nonsynonymous SNV	C20orf141:NM_080739:exon2:c.C484T:p.H162Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.009	B	0.007	B	.	.	1.000	N	0.805	L	.	.	-1.018	T	0.064	T	0.2	2.009	12.67	1.46	1.162	0.689	3.446	0.035	0.00429133927704	7.7e-05	.	0.0002	0	8.642e-05	0	0	0.0002	0	0.0005	0.000207	32	154602	rs143521978	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	0	0.0002	0	0	0	0.0002	0.0002	0.0001	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	0.0002	0	0.0001	0	0	0	0.0136	0.0003	0	0	0.0	0.91255	D	0.0	0.92824	D	0.009	0.15093	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	.	.	.	-5.0	0.82341	D	0.268	0.30347	-1.0176	0.24495	T	0.064	0.26632	T	8	0.05811879	0.06784	T	0.004291	0.10404	T	0.035	0.08770	.	.	0.341934017632	0.33809	0.18156244118907594	0.18075	0.0877359232739	0.09904	.	.	.	0.112677	0.42914	T	-0.353811	0.04492	T	-0.429845	0.29952	T	0.102698840900503	0.12652	T	0.50065	0.15660	T	0.49851242	0.67008	0.4669607	0.69074	0.49851242	0.67009	0.4669607	0.69074	-3.547	0.17096	T	.	.	0.115	0.23005	B	.;.	.;.	2.475749	0.31918	18.89	0.99492278656462263	0.67516	0.09753	0.15437	N	AEFBI	0.052256	0.09309	N	-0.534014469608512	0.20987	1.11051	-0.474805435459209	0.22850	1.243193	0.991241143157289	0.32422	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.59	1.46	0.21769	1.438000	0.34612	-0.057000	0.12472	0.592000	0.32167	0.008000	0.17931	0.001000	0.17328	0.657000	0.32885	0.202:0.584:0.0:0.214	3.446	0.07050	516	0.74704	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	704.98	43	chr20	2815761	.	C	T	704.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.990e-01;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=0.434;SOR=0.573	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1017	20	0	1	0
chr20	2835601	2835601	C	T	exonic	PCED1A	.	nonsynonymous SNV	PCED1A:NM_001271168:exon8:c.G1073A:p.R358H	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.063	N	0.502	N	1.845	L	0.07	T	-0.193	T	0.360	T	0.446	4.125	21.3	3.81	2.424	1.892	11.488	0.154	0.135091255735	.	.	3.314e-05	0	0	0	0	1.505e-05	0	0.0002	3.88e-05	6	154602	rs564202048	1.984e-05	1.984e-05	1.634e-05	2.338e-05	0.0003	1.392e-05	1.204e-05	6.094e-05	2.522e-05	0	0	0	2.52e-05	0	0.0003	1.529e-05	6.625e-05	5.798e-05	1.969e-05	1.968e-05	1.285e-05	2.685e-05	1.47e-05	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0.0068	1.47e-05	0	0	0.002	0.72154	D	0.011	0.64786	D	1.0	0.90584	D	0.991	0.84481	D	0.062868	0.22066	N	0.424789	0.501556	0.31721	N	2.42	0.70002	M	0.07	0.64264	T	-2.02	0.52289	N	0.595	0.65245	-0.1932	0.77847	T	0.360	0.72155	T	10	0.6733623	0.70846	D	0.135091	0.81754	D	0.154	0.40340	0.307	0.27806	0.768888816365	0.76677	0.3053604330031875	0.30449	1.29702667669	0.82924	0.412586480379	0.26815	T	0.050561	0.28629	T	-0.153321	0.27793	T	-0.221343	0.52608	T	0.46648661373231	0.31403	T	0.80392	0.46746	T	0.13084303	0.30518	0.119368866	0.28813	0.13084303	0.30518	0.119368866	0.28812	-3.732	0.19791	T	.	.	0.085	0.13362	B	.;.	.;.	4.167384	0.62634	24.5	0.99926297267474506	0.99103	0.57266	0.30332	D	AEFDBHCI	0.303763	0.41165	N	0.522464658544717	0.68422	5.214818	0.456095548739107	0.65108	4.782418	0.997433598925693	0.35614	0.706298	0.61202	0	0.643519	0.57511	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	3.81	3.81	0.43020	1.902000	0.39479	3.679000	0.39461	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.0:1.0:0.0:0.0	11.488	0.49615	485	0.77085	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1382.98	38	chr20	2835601	.	C	T	1382.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.510;DP=810;ExcessHet=0.0000;FS=1.580;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.43;ReadPosRankSum=1.61;SOR=0.877	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1238	20	0	1	0
chr20	2863349	2863349	C	T	exonic	VPS16	.	nonsynonymous SNV	VPS16:NM_080413:exon11:c.C995T:p.P332L	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.959	D	0.000	D	1.000	D	3.105	M	0.77	T	-0.168	T	0.351	T	0.652	4.861	27.8	4.67	2.426	6.848	15.105	0.433	0.105135148636	.	.	5.767e-05	0	0	0	0	1.499e-05	0	0.0004	4.53e-05	7	154602	rs202019988	3.078e-05	3.078e-05	1.225e-05	4.95e-05	0.0004	2.347e-05	2.095e-05	0.0003	0.0002	0	0	0	0	0	0.0003	7.194e-06	4.967e-05	0.0004	1.314e-05	1.313e-05	2.569e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	0	0	0.0002	0.002	0.72154	D	0.003	0.76473	D	0.986	0.73220	D	0.722	0.70163	P	0.000000	0.84330	D	0.054301	1	0.81001	D	2.64	0.77224	M	0.73	0.50721	T	-6.49	0.94274	D	0.675	0.68950	-0.1678	0.78481	T	0.351	0.71502	T	10	0.5702216	0.65277	D	0.105135	0.78009	D	0.433	0.73879	0.48	0.55983	0.866220678794	0.86491	0.5485649576803717	0.54782	0.70152782101	0.61159	0.570145189762	0.48698	T	0.313743	0.68547	T	-0.147031	0.28778	T	-0.144429	0.59733	T	0.721659541130066	0.41783	D	0.907909	0.67446	D	0.5767807	0.71432	0.5472588	0.73827	0.5767807	0.71433	0.5472588	0.73828	-12.856	0.88761	D	.	.	0.372	0.65381	A	.;.;.	.;.;.	4.892790	0.80347	27.3	0.99888210856203685	0.96281	0.98888	0.88198	D	AEFDBI	0.769719	0.70489	D	0.785515053708924	0.85193	8.503211	0.725985166498079	0.84350	8.267994	0.99999925588633	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.67	4.67	0.58089	5.262000	0.65319	7.732000	0.67763	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	15.105	0.71992	476	0.77720	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3027.98	33	chr20	2863349	.	C	T	3027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=964;ExcessHet=0.0000;FS=3.463;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=0.607;SOR=0.905	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1162	20	0	1	0
chr20	2865406	2865406	T	C	exonic	VPS16	.	nonsynonymous SNV	VPS16:NM_080413:exon18:c.T1750C:p.W584R	.	.	429	1043	45	5	0	55	0.0256889	.	.	2736087	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.085	M	0.72	T	-0.565	T	0.217	T	0.963	3.752	19.05	5.64	2.145	5.676	13.810	0.688	.	0.0059	0.00359425	0.0068	0.0010	0.0062	0	0.0009	0.0081	0.0077	0.0115	0.0064488	997	154602	rs61729229	0.0057	0.0057	0.0054	0.0061	0.0276	0.0056	0.0056	0.0241	0.0227	0.0018	0.0074	0.0353	2.519e-05	0.0007	0.0276	0.0048	0.0083	0.0113	0.0053	0.0053	0.0052	0.0055	0.0109	0.0050	0.0049	0.0095	0.0090	0.0013	0.0044	0.0109	0.0409	0.0002	0.0006	0.0170	0.0053	0.0147	0.0083	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.215	0.62545	M	0.72	0.50976	T	-13.03	0.99887	D	0.778	0.77507	-0.5647	0.66223	T	0.217	0.57915	T	10	0.017725319	0.00380	T	.	.	.	0.688	0.88632	0.91	0.98190	0.727100791208	0.72467	0.896248764703781	0.89595	0.859348079951	0.68892	0.761442005634	0.76143	T	0.258767	0.62995	T	-0.0480361	0.44744	T	0.167618	0.81267	D	0.0540455955808897	0.06196	T	0.769823	0.39947	T	0.9643266	0.97712	0.9436374	0.98003	0.96964383	0.98227	0.9436374	0.98003	-9.093	0.73558	D	.	.	0.978	0.90664	P	.;.	.;.	5.227488	0.87742	29.3	0.99530452978001271	0.69839	0.93689	0.58911	D	AEFDBCI	0.769772	0.70493	D	0.736808766137726	0.82044	7.666397	0.720030717527245	0.83901	8.144543	0.999996139414198	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	5.669000	0.67750	7.938000	0.75364	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	13.810	0.62751	480	0.77422	Vps16, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2309.98	33	chr20	2865406	.	T	C	2309.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.471e+00;DP=884;ExcessHet=0.0000;FS=1.258;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.20;ReadPosRankSum=1.22;SOR=0.574	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1135	20	0	1	0
chr20	2865421	2865421	G	A	exonic	VPS16	.	nonsynonymous SNV	VPS16:NM_080413:exon18:c.G1765A:p.A589T	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.995	D	0.903	P	0.000	D	1.000	D	1.67	L	0.96	T	-0.825	T	0.210	T	0.588	3.142	16.51	5.64	2.655	4.767	17.198	0.123	0.0120488276617	.	0.000199681	6.63e-05	0	0	0.0002	0.0002	1.508e-05	0.0022	0.0001	5.82e-05	9	154602	rs529582383	3.831e-05	3.831e-05	2.314e-05	5.363e-05	0.0007	3.025e-05	2.719e-05	0.0002	0.0001	2.987e-05	2.236e-05	0	0.0002	0	0.0007	1.259e-05	9.934e-05	0.0003	7.876e-05	7.873e-05	5.139e-05	0.0001	0.0010	4.492e-05	3.509e-05	0.0004	0.0003	2.405e-05	0	0	0	0.0008	0	0	1.47e-05	0.0005	0.0010	0.304	0.14303	T	0.339	0.18071	T	0.995	0.67487	D	0.903	0.64103	P	0.000000	0.84330	D	0.049358	1	0.81001	D	1.66	0.42513	L	0.96	0.42888	T	-0.93	0.39503	N	0.7	0.71232	-0.8245	0.53651	T	0.210	0.56933	T	10	0.36082017	0.52717	T	0.012049	0.30270	T	0.123	0.34020	0.674	0.81200	0.494433119893	0.49078	0.6441469812253703	0.64349	0.73719295691	0.63037	0.489508867264	0.37370	T	0.074577	0.34972	T	-0.264995	0.12321	T	-0.326275	0.41882	T	0.133033378778139	0.15660	T	0.952205	0.81731	D	0.3167183	0.54361	0.23870814	0.49200	0.3167183	0.54361	0.23870814	0.49199	-7.755	0.59389	D	.	.	0.193	0.41264	B	.;.	.;.	4.807511	0.78178	26.8	0.99846071452540563	0.92576	0.89557	0.50097	D	AEFDBCI	0.606754	0.59698	D	0.536378530525652	0.69258	5.33131	0.591081021750271	0.74299	6.113425	0.9987682253811	0.37623	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	4.870000	0.62730	9.932000	0.82588	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	17.198	0.86778	480	0.77422	Vps16, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3873.11	33	chr20	2865421	.	G	A	3873.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.827e+00;DP=969;ExcessHet=0.1072;FS=2.646;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=0.816;SOR=0.539	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1135	19	0	2	0
chr20	3027761	3027761	A	G	exonic	PTPRA	.	nonsynonymous SNV	PTPRA:NM_001385318:exon15:c.A1423G:p.I475V	.	.	.	.	.	.	.	.	.	.	.	3318507	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.001	B	0.005	B	0.000	U	1.000	D	-0.965	N	-1.72	D	-0.750	T	0.191	T	0.283	-0.040	3.808	5.58	2.122	4.307	11.291	0.263	0.0195860573925	.	.	0.0002	0	0	0	0	0.0001	0	0.0008	0.0001358	21	154602	rs774971415	7.593e-05	7.593e-05	5.309e-05	9.901e-05	0.0029	6.423e-05	6.004e-05	0.0019	0.0015	0	4.472e-05	0	0	0	0.0029	8.993e-06	9.935e-05	0.0009	4.599e-05	4.594e-05	2.571e-05	6.719e-05	0.0010	2.109e-05	1.527e-05	0.0004	0.0003	0	0	0	0	0	0	0.0034	1.47e-05	0	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.005	0.11217	B	0.000186	0.48115	U	0.178902	0.999552	0.47544	D	-1.375	0.00634	N	-1.72	0.83241	D	0.65	0.02332	N	0.14	0.13911	-0.7502	0.57925	T	0.191	0.54315	T	10	0.02626133	0.00797	T	0.019586	0.41992	T	0.263	0.57612	.	.	0.398365109743	0.39450	0.19829515695027	0.19746	0.536254817001	0.50962	0.550503432751	0.45928	T	0.313618	0.68535	T	-0.309203	0.07818	T	-0.28168	0.46632	T	0.0472043434979194	0.05001	T	0.830117	0.49576	T	0.07147833	0.15828	0.06362573	0.12630	0.07147833	0.15828	0.06362573	0.12629	-1.333	0.01455	T	.	.	0.057	0.00658	B	.;.;.;.;.	.;.;.;.;.	4.329708	0.66332	24.9	0.66262342534938024	0.08007	0.93189	0.57558	D	AEFBI	0.420160	0.48710	N	-0.43831147218636	0.24138	1.301246	-0.134086876237936	0.34026	1.952733	0.416655640886429	0.20257	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	3.639000	0.54079	9.142000	0.78915	0.756000	0.94297	0.997000	0.40164	1.000000	0.68203	0.999000	0.91618	0.7199:0.2801:0.0:0.0	11.291	0.48487	632	0.64850	PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;.;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1178.98	39	chr20	3027761	.	A	G	1178.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.199;DP=880;ExcessHet=0.0000;FS=0.694;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.08;ReadPosRankSum=-1.229e+00;SOR=0.680	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,114,1710	20	0	1	0
chr20	3122542	3122542	C	T	exonic	UBOX5	.	nonsynonymous SNV	UBOX5:NM_001267584:exon3:c.G97A:p.D33N	.	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	1.0	D	0.000	U	1.000	D	2.3	M	1.22	T	-0.638	T	0.240	T	0.181	3.973	20.3	5.04	2.335	5.695	18.397	0.248	0.0391178689889	0.0002	0.000599042	0.0012	9.93e-05	8.754e-05	0	0.0052	0.0010	0.0023	0.0024	0.0009638	149	154602	rs146142981	0.0005	0.0005	0.0004	0.0006	0.0024	0.0005	0.0005	0.0021	0.0020	6.027e-05	0.0001	0	0	0.0040	0.0009	0.0003	0.0006	0.0024	0.0004	0.0004	0.0004	0.0004	0.0012	0.0003	0.0003	0.0005	0.0004	4.812e-05	0	0.0002	0	0	0.0019	0	0.0005	0.0005	0.0012	0.142	0.25457	T	0.162	0.31225	T	1.0	0.90584	D	1.0	0.97372	D	0.000030	0.55875	U	0.114382	0.999962	0.52935	D	2.095	0.58118	M	1.22	0.37052	T	-1.58	0.38540	N	0.743	0.74280	-0.6378	0.63239	T	0.240	0.60750	T	10	0.009525418	0.00215	T	0.039118	0.58623	D	0.248	0.55615	.	.	0.611003947198	0.60787	0.5651355608238637	0.56440	0.287836817599	0.31183	0.623332500458	0.56200	T	0.077185	0.35596	T	-0.469179	0.00860	T	-0.451957	0.27482	T	0.0574423494604138	0.06760	T	0.944805	0.79065	D	0.17502372	0.38339	0.12683475	0.30540	0.17502372	0.38338	0.12683475	0.30539	-6.644	0.51848	T	.	.	0.154	0.40360	B	.;.;.	.;.;.	4.727341	0.76104	26.5	0.99908702239961755	0.97875	0.96143	0.67729	D	AEFBHI	0.623421	0.60737	D	0.704478209555246	0.79927	7.182164	0.656641140829314	0.79107	7.01281	0.99999998554833	0.74766	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.04	5.04	0.67293	5.810000	0.68852	7.630000	0.62690	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.397	0.90445	584	0.69381	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1439.98	36	chr20	3122542	.	C	T	1439.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.092;DP=822;ExcessHet=0.0000;FS=1.416;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=0.521;SOR=0.884	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1247	20	0	1	0
chr20	3166252	3166252	G	A	exonic	LZTS3	.	nonsynonymous SNV	LZTS3:NM_001282533:exon4:c.C568T:p.R190W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.981	D	0.004	N	1.000	D	1.24	L	1.42	T	-0.890	T	0.157	T	0.848	3.987	20.4	5.26	2.450	4.592	13.008	0.162	0.0160562482763	.	.	8.513e-06	0	0	0	0	1.545e-05	0	0	6.5e-06	1	154602	rs777367896	1.779e-05	1.779e-05	2.179e-05	1.376e-05	0.0002	1.238e-05	1.052e-05	1.295e-05	1.106e-05	0	0	0	2.52e-05	0	0.0002	1.979e-05	0	2.32e-05	2.628e-05	2.627e-05	2.569e-05	2.69e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.008	0.68238	D	0.01	0.65728	D	1.0	0.90584	D	0.958	0.75168	D	0.004053	0.34172	N	0.306548	0.999633	0.47961	D	1.65	0.42232	L	1.42	0.33630	T	-3.38	0.68999	D	0.572	0.62950	-0.8897	0.48960	T	0.157	0.49010	T	10	0.5599779	0.64733	D	0.016056	0.37127	T	0.162	0.41843	0.218	0.13932	0.452650218784	0.44890	0.34660704983872326	0.34574	0.724124553774	0.62372	0.704626381397	0.67813	T	0.070574	0.33993	T	0.0407585	0.57146	T	-0.0101015	0.69678	D	0.860206723213196	0.51070	D	0.906009	0.67324	D	0.20906793	0.43162	0.17767194	0.40384	0.20906793	0.43162	0.17767194	0.40384	-5.019	0.37045	T	.	.	0.146	0.52442	B	.;.;.;.	.;.;.;.	5.228593	0.87761	29.4	0.99914352699946518	0.98309	0.96739	0.70680	D	AEFDBI	0.825918	0.74551	D	0.611597661045481	0.73906	6.043396	0.61956065455439	0.76361	6.476935	0.998623603740125	0.37330	0.695654	0.57023	0	0.550933	0.16991	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	5.26	5.26	0.73479	3.833000	0.55492	9.770000	0.81549	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.7286:0.2714	13.008	0.58120	669	0.61081	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1967.98	36	chr20	3166252	.	G	A	1967.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=904;ExcessHet=0.0000;FS=0.583;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=3.16;SOR=0.720	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1276	20	0	1	0
chr20	3167046	3167046	C	T	exonic	LZTS3	.	nonsynonymous SNV	LZTS3:NM_001282533:exon3:c.G118A:p.V40M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.973	D	0.007	N	1.000	D	1.59	L	0.71	T	-0.455	T	0.285	T	0.692	5.020	29.6	4.36	1.976	2.994	16.91	0.197	0.0258592431877	.	0.000199681	0.0005	0	0	0.0030	0	0.0004	0	0.0001	0.0002135	33	154602	rs531081411	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0002	0.0004	0.0003	0.0002	0.0001	3.967e-05	0.0006	2.615e-05	0.0005	0.0002	0.0004	7.176e-05	0.0001	0.0001	0.0001	9.397e-05	0.0012	7.57e-05	6.276e-05	0.0005	0.0003	7.215e-05	0	6.533e-05	0	0.0012	0	0	0.0001	0	0	0.002	0.72154	D	0.0	0.92824	D	0.999	0.90584	D	0.939	0.72923	D	0.007411	0.31413	N	0.296523	1	0.81001	D	2.485	0.72352	M	0.71	0.56772	T	-2.31	0.51968	N	0.22	0.39659	-0.4547	0.70245	T	0.285	0.65705	T	10	0.03346309	0.01524	T	0.025859	0.48807	D	0.197	0.47942	.	.	0.321115633427	0.31720	0.7169725355721657	0.71640	0.182867847084	0.20557	0.837114989758	0.87653	D	0.040788	0.25642	T	-0.207085	0.19792	T	-0.100319	0.63373	T	0.0484857377042399	0.05230	T	0.856914	0.55722	D	0.13946864	0.32215	0.18474858	0.41545	0.13946864	0.32215	0.18474858	0.41544	-4.85	0.35168	T	.	.	0.819	0.78182	P	.;.;.;.	.;.;.;.	3.904257	0.56897	23.8	0.99889641098093085	0.96436	0.98342	0.81813	D	AEFDBI	0.515678	0.54253	D	0.515216799744852	0.67988	5.155843	0.478066085718498	0.66538	4.965278	0.999999999999274	0.74766	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.586402	0.36253	0	.	.	4.36	4.36	0.51643	1.937000	0.39821	3.685000	0.39479	0.599000	0.40250	0.995000	0.38783	0.999000	0.35428	0.955000	0.50612	0.0:1.0:0.0:0.0	16.91	0.86006	665	0.61472	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	988.98	43	chr20	3167046	.	C	T	988.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.13;DP=904;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.54;ReadPosRankSum=0.651;SOR=0.754	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1098	20	0	1	0
chr20	3195328	3195328	T	C	exonic	DDRGK1	.	nonsynonymous SNV	DDRGK1:NM_023935:exon5:c.A536G:p.E179G,	.	.	407	1113	2	0	0	2	0.000897666	.	.	2002134	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.999	D	0.996	D	0.000	D	1.000	D	2.9	M	0.42	T	-0.197	T	0.367	T	0.467	4.171	21.6	4.48	1.874	6.571	11.752	0.430	0.112159962598	.	.	8.487e-06	0	0	0	0	1.522e-05	0	0	6.5e-06	1	154602	rs778690394	3.641e-05	3.625e-05	3.553e-05	3.73e-05	4.329e-05	2.84e-05	2.576e-05	3.352e-05	2.964e-05	2.998e-05	0	0	0	0	0	4.329e-05	4.992e-05	1.172e-05	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.005	0.79402	D	0.999	0.77913	D	0.995	0.83170	D	0.000000	0.84330	D	0.046793	1	0.81001	D	2.515	0.73286	M	0.42	0.56937	T	-6.08	0.89910	D	0.665	0.73015	-0.1972	0.77743	T	0.367	0.72735	T	10	0.8250778	0.81691	D	0.11216	0.79020	D	0.430	0.73662	0.481	0.56142	0.736651910863	0.73429	0.24513281377790896	0.24427	0.884254116262	0.69901	0.495906949043	0.38258	T	0.291665	0.75960	T	-0.0476807	0.44798	T	-0.196208	0.55006	T	0.977378129959106	0.71814	D	0.892711	0.62952	D	0.69269997	0.77658	0.61225647	0.77440	0.69269997	0.77659	0.61225647	0.77441	-12.202	0.85821	D	.	.	0.318	0.54368	B	.;.	.;.	5.047982	0.84062	28.2	0.99917194890295402	0.98518	0.93770	0.59141	D	AEFBCI	0.768390	0.70396	D	0.742296880354506	0.82400	7.753718	0.656210375204352	0.79074	7.006115	0.99098665770797	0.32334	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.48	4.48	0.53973	6.751000	0.74689	7.861000	0.71444	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.572000	0.30699	0.0:0.0:0.0:1.0	11.752	0.51119	632	0.64850	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1222.98	48	chr20	3195328	.	T	C	1222.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.438e+00;DP=854;ExcessHet=0.0000;FS=1.497;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.63;ReadPosRankSum=1.27;SOR=0.562	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1335	20	0	1	0
chr20	3218622	3218622	G	C	exonic	ITPA	.	nonsynonymous SNV	ITPA:NM_001267623:exon4:c.G278C:p.G93A	Epileptic encephalopathy, early infantile, 35, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.01	M	.	.	0.201	D	0.548	D	0.953	4.315	22.6	5.8	2.749	7.772	15.547	0.752	0.0375793919935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.035	0.57104	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.4	0.91674	M	.	.	.	-5.82	0.88289	D	0.965	0.97535	0.201	0.85918	D	0.548	0.83393	D	9	0.98191226	0.98241	D	0.037579	0.57701	D	0.752	0.91498	0.877	0.96683	0.699967871901	0.69737	0.9429938801798265	0.94281	1.03381354485	0.75508	0.592211425304	0.51807	T	0.899353	0.98014	D	0.48318	0.93811	D	0.456278	0.93732	D	0.998660445213318	0.94798	D	0.971503	0.89686	D	0.8720203	0.89022	0.8854587	0.93945	0.8720203	0.89023	0.8854587	0.93945	-8.778	0.70803	D	0.5758557210943188	0.64283	0.794	0.77025	P	.;.;.	.;.;.	4.919242	0.81005	27.4	0.99741210550207937	0.83482	0.82801	0.41980	D	ALL	0.944576	0.95184	D	0.878728482268401	0.90678	10.51482	0.805647483856903	0.90185	10.29292	1.0	0.98316	0.77792	0.99625	0	0.779548	0.99637	0	0.854111	0.99894	0	0.691587	0.68394	0	.	.	5.8	5.8	0.92081	7.973000	0.87648	11.450000	0.92794	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.289000	0.24236	0.0:0.0:1.0:0.0	15.547	0.75846	524	0.74079	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1454.98	33	chr20	3218622	.	G	C	1454.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.850e-01;DP=847;ExcessHet=0.0000;FS=0.615;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.15;ReadPosRankSum=-1.180e-01;SOR=0.604	GT:AD:DP:GQ:PL	0/1:97,62:159:99:1469,0,2627	20	0	1	0
chr20	3223417	3223417	G	A	exonic	ITPA	.	nonsynonymous SNV	ITPA:NM_001324236:exon7:c.G203A:p.G68E	Epileptic encephalopathy, early infantile, 35, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	716898	Inosine_triphosphatase_deficiency|not_provided	MONDO:MONDO:0013461,MedGen:C0342800,OMIM:613850|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000599042	0.0009	0	0	0.0034	0.0035	0.0007	0.0023	0.0006	0.0008279	128	154602	rs202174987	0.0004	0.0004	0.0004	0.0004	0.0032	0.0004	0.0004	0.0028	0.0026	2.987e-05	0	0	0.0032	0.0036	0.0002	0.0001	0.0006	0.0007	0.0004	0.0004	0.0003	0.0005	0.0021	0.0003	0.0003	0.0012	0.0009	0	0	0	0	0.0021	0.0038	0	0.0001	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1367.98	36	chr20	3223417	.	G	A	1367.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.440e-01;DP=959;ExcessHet=0.0000;FS=1.474;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=-1.415e+00;SOR=0.538	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	20	0	1	0
chr20	3231385	3231385	G	A	exonic	SLC4A11	.	nonsynonymous SNV	SLC4A11:NM_032034:exon7:c.C941T:p.A314V	Corneal dystrophy, Fuchs endothelial, 4;Corneal endothelial dystrophy and perceptive deafness, Autosomal recessive;Corneal endothelial dystrophy, autosomal recessive, Autosomal recessive	.	0	1496	26	0	0	26	0.00861498	.	.	350834	not_provided|Corneal_dystrophy-perceptive_deafness_syndrome|not_specified|Corneal_dystrophy	MedGen:C3661900|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400,Orphanet:1490|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.31	T	0.003	B	0.002	B	0.000	N	1.000	N	0	N	-1.46	T	-0.941	T	0.219	T	0.071	1.686	11.60	-1.19	-0.398	-0.422	0.602	0.166	0.0187135128428	0.0008	0.00119808	0.0015	0.0006	0.0006	0	0	0.0008	0	0.0067	0.0012678	196	154602	rs141705330	0.0008	0.0008	0.0006	0.0011	0.0070	0.0008	0.0008	0.0066	0.0064	0	0.0004	0.0003	0	0	0.0052	0.0004	0.0007	0.0070	0.0005	0.0005	0.0005	0.0006	0.0044	0.0004	0.0004	0.0029	0.0025	0.0002	0	0.0003	0	0	9.416e-05	0.0068	0.0006	0.0009	0.0044	0.354	0.12552	T	0.191	0.31326	T	0.003	0.11197	B	0.001	0.04355	B	0.000001	0.00162	N	13.587100	1	0.08975	N	0.345	0.11182	N	-1.54	0.81640	D	-0.39	0.13611	N	0.08	0.07673	-0.9407	0.42505	T	0.219	0.58201	T	10	0.0050378144	0.00109	T	0.018714	0.40862	T	0.166	0.42578	.	.	0.642064274222	0.63911	0.306582639853875	0.30571	0.290139097173	0.31421	0.241381689906	0.02915	T	0.101468	0.40826	T	-0.521002	0.00434	T	-0.517294	0.20570	T	0.00439368681966606	0.00047	T	0.536546	0.18022	T	0.029162891	0.02367	0.03209558	0.01894	0.029136235	0.02359	0.026908126	0.00808	-4.487	0.30718	T	0.11561704083363232	0.10363	0.063	0.01692	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.122019	0.05193	1.706	0.9626825965019713	0.29240	0.02514	0.07011	N	AEFDBI	0.049290	0.08500	N	-1.17554916748796	0.05371	0.2447011	-1.18841041539026	0.06102	0.2927229	0.998806152889605	0.37711	0.706298	0.61202	0	0.588066	0.40923	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.08	-1.19	0.09091	-0.460000	0.06797	0.496000	0.18948	0.672000	0.70159	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2122:0.1472:0.3088:0.3318	0.602	0.00699	452	0.79239	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1874.98	36	chr20	3231385	.	G	A	1874.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.180e+00;DP=1033;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=0.870;SOR=0.741	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr20	3234786	3234786	C	A	exonic	SLC4A11	.	nonsynonymous SNV	SLC4A11:NM_032034:exon2:c.G245T:p.R82L	Corneal dystrophy, Fuchs endothelial, 4;Corneal endothelial dystrophy and perceptive deafness, Autosomal recessive;Corneal endothelial dystrophy, autosomal recessive, Autosomal recessive	.	0	1518	4	0	0	4	0.00131579	.	.	2112631	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.91	P	0.437	B	0.520	N	0.998	D	1.87	L	-1.69	D	-0.111	T	0.615	D	0.802	4.321	22.7	4.76	2.201	3.193	16.541	0.609	0.158233494561	7.7e-05	0.000399361	0.0002	0	8.652e-05	0	0	0.0002	0	0.0001	0.0001358	21	154602	rs200106947	0.0001	0.0001	8.712e-05	0.0001	0.0005	8.713e-05	8.201e-05	0.0001	8.645e-05	0	8.945e-05	0	0	0	0.0005	0.0001	0.0001	0.0002	9.195e-05	9.187e-05	8.996e-05	9.403e-05	0.0003	5.525e-05	4.363e-05	8.87e-05	5.282e-05	2.407e-05	0	0.0003	0	0	0	0	0.0001	0	0.0002	0.008	0.59928	D	0.008	0.67890	D	0.845	0.46707	P	0.253	0.39112	B	0.520122	0.05197	N	1.431730	0.998264	0.44698	D	1.625	0.41611	L	-1.72	0.83495	D	-1.61	0.39314	N	0.763	0.77601	-0.1106	0.79853	T	0.615	0.86376	D	10	0.21988231	0.38670	T	0.158233	0.83867	D	0.609	0.84666	.	.	0.95075320592	0.95022	0.6130092814293496	0.61232	0.84949818172	0.68455	0.502622783184	0.39193	T	0.222035	0.58577	T	0.0150646	0.53713	T	0.0740058	0.75177	D	0.160707637667656	0.17924	T	0.915508	0.69822	D	0.16547091	0.36821	0.17767748	0.40386	0.16547091	0.36821	0.17767748	0.40385	-5.346	0.40396	T	0.26321210660284905	0.35511	0.247	0.63414	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.554445	0.71708	25.7	0.9981455333046565	0.89797	0.87326	0.46831	D	AEFDBI	0.356621	0.44794	N	0.378031124979323	0.60232	4.210051	0.397117608953143	0.61386	4.338081	0.999999983529213	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.570548	0.19454	0	0.613276	0.41899	0	.	.	4.76	4.76	0.60189	3.638000	0.54072	2.236000	0.31572	0.596000	0.33519	0.991000	0.37257	0.978000	0.30204	0.937000	0.47636	0.0:1.0:0.0:0.0	16.541	0.84233	421	0.81399	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2218.98	35	chr20	3234786	.	C	A	2218.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.29;DP=911;ExcessHet=0.0000;FS=0.539;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=-2.218e+00;SOR=0.739	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	20	0	1	0
chr20	3270526	3270526	G	A	exonic	C20orf194	.	nonsynonymous SNV	C20orf194:NM_001009984:exon30:c.C2687T:p.T896M,	.	.	433	1076	11	2	0	15	0.00692201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.005	B	0.004	B	0.683	N	1.000	N	0.755	N	2.19	T	-1.025	T	0.031	T	0.071	1.271	10.15	-6.97	-1.273	0.128	14.476	0.059	0.00706387392754	0.0020	0.000399361	0.0016	0.0001	0.0010	0	0	0.0025	0.0022	0.0010	0.001423	220	154602	rs61734536	0.0010	0.0010	0.0009	0.0011	0.0104	0.0010	0.0009	0.0082	0.0074	0.0004	0.0009	0.0199	7.557e-05	0	0.0104	0.0005	0.0031	0.0009	0.0010	0.0010	0.0012	0.0008	0.0008	0.0009	0.0008	0.0006	0.0006	4.813e-05	0	0.0008	0.0202	0	0	0.0068	0.0008	0.0028	0.0008	0.172	0.22660	T	0.264	0.22761	T	0.005	0.12996	B	0.002	0.06944	B	0.683345	0.10239	N	0.868192	1	0.08975	N	1.155	0.29575	L	2.19	0.18724	T	-1.57	0.37955	N	0.124	0.11626	-1.0246	0.22214	T	0.031	0.13242	T	10	0.002697289	0.00042	T	0.007064	0.18704	T	0.059	0.16972	.	.	0.448498829774	0.44469	0.3119763271510845	0.31110	0.180957177562	0.20352	.	.	.	0.027973	0.20368	T	-0.632024	0.00093	T	-0.739827	0.03897	T	0.0122767947871683	0.00198	T	0.240176	0.03436	T	0.022769598	0.00963	0.07199755	0.15482	0.022769598	0.00963	0.07199755	0.15482	-4.375	0.29216	T	.	.	0.067	0.02370	B	.	.	0.591787	0.09604	6.376	0.93264850271802124	0.22961	0.06461	0.12469	N	AEFBI	0.051133	0.09005	N	-1.41053819242941	0.02545	0.1125367	-1.45039972113467	0.02766	0.1278428	0.020266759278747	0.13241	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.26	-6.97	0.01459	0.092000	0.14905	-1.840000	0.04631	-1.405000	0.01138	0.000000	0.06391	0.000000	0.08366	0.628000	0.32104	0.6024:0.0:0.3976:0.0	14.476	0.67123	376	0.83959	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	719.98	33	chr20	3270526	.	G	A	719.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=759;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.86;ReadPosRankSum=-1.656e+00;SOR=0.837	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1337	20	0	1	0
chr20	3671950	3671950	C	A	exonic	ADAM33	.	nonsynonymous SNV	ADAM33:NM_001282447:exon15:c.G1633T:p.V545L	.	.	400	1118	4	0	0	4	0.00178571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.893	P	0.658	P	.	.	0.846	D	1.12	L	2.06	T	-1.046	T	0.051	T	0.132	4.390	23.2	3.33	0.592	2.054	8.387	0.063	0.0160509344362	.	0.000199681	0.0001	0	0	0	0	0.0003	0	0	5.17e-05	8	154602	rs530760730	9.543e-05	9.919e-05	8.016e-05	0.0001	0.0007	8.215e-05	7.668e-05	0.0002	0.0001	0	2.774e-05	0.0010	0	0	0.0007	7.581e-05	0.0002	0.0002	7.877e-05	7.873e-05	0.0001	4.027e-05	0.0002	4.492e-05	3.509e-05	5.841e-05	4.239e-05	2.405e-05	0	0	0.0006	0	0	0	0.0001	0	0.0002	0.007	0.59928	D	0.02	0.64786	D	0.893	0.49136	P	0.658	0.52749	P	.	.	.	.	0.846063	0.35144	D	1.79	0.46772	L	2.06	0.20523	T	-2.39	0.52612	N	0.28	0.31702	-1.0463	0.15447	T	0.051	0.21650	T	9	0.12338078	0.23421	T	0.016051	0.37112	T	0.063	0.18251	0.425	0.47021	0.355658859761	0.35178	0.7582864376820893	0.75776	0.0792000987712	0.08910	0.468165755272	0.34429	T	0.164535	0.51003	T	-0.401811	0.02253	T	-0.578281	0.14698	T	0.124209577910478	0.14837	T	0.881212	0.60074	D	0.3625588	0.58030	0.2965127	0.55683	0.3625588	0.58031	0.2965127	0.55683	-5.206	0.39844	T	.	.	0.149	0.32827	B	.;.;.;.	.;.;.;.	2.714163	0.35483	19.91	0.99566428068635049	0.72136	0.92941	0.56925	D	AEFDBI	0.576513	0.57848	D	-0.141749990187166	0.35588	2.045963	-0.175091480661287	0.32454	1.846638	0.999843788680253	0.43971	0.676563	0.55306	0	0.563428	0.19063	0	0.673471	0.61138	0	0.616125	0.45549	0	.	.	5.3	3.33	0.37245	1.682000	0.37245	0.062000	0.14145	0.597000	0.34315	0.832000	0.30162	0.002000	0.18203	0.739000	0.35404	0.155:0.7619:0.0:0.0831	8.387	0.31666	636	0.64483	ADAM, cysteine-rich|ADAM, cysteine-rich;ADAM, cysteine-rich|ADAM, cysteine-rich;ADAM, cysteine-rich|ADAM, cysteine-rich;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	876.98	33	chr20	3671950	.	C	A	876.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.282e+00;DP=791;ExcessHet=0.0000;FS=1.004;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.49;ReadPosRankSum=0.310;SOR=0.884	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,944	20	0	1	0
chr20	3698086	3698086	C	T	exonic	SIGLEC1	.	nonsynonymous SNV	SIGLEC1:NM_001367089:exon8:c.G1834A:p.A612T	.	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.036	B	0.019	B	0.204	N	1.000	N	0.205	N	1.97	T	-1.024	T	0.023	T	0.048	0.860	8.482	-5.22	-1.117	-3.311	4.216	0.021	0.00393170437637	.	.	2.235e-05	0.0002	0	0	0	0	0.0015	0	1.29e-05	2	154602	rs750338322	7.558e-06	1.231e-05	5.469e-06	9.668e-06	6.024e-05	4.06e-06	2.97e-06	9.98e-06	3.73e-06	6.024e-05	0	0	2.528e-05	0	0	6.306e-06	0	1.168e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.436	0.09374	T	0.357	0.17115	T	0.036	0.20732	B	0.019	0.18783	B	0.203661	0.03337	N	1.787120	1	0.08975	N	-0.055	0.04927	N	1.97	0.22067	T	-0.13	0.08971	N	0.064	0.03613	-1.0240	0.22410	T	0.023	0.09741	T	10	0.031507343	0.01286	T	0.003932	0.09274	T	0.021	0.04004	.	.	0.0806252709748	0.07271	0.3063664208417666	0.30549	0.114698624916	0.12937	0.312042951584	0.12216	T	0.056733	0.30370	T	-0.41777	0.01767	T	-0.837874	0.01131	T	0.0115486333666334	0.00175	T	0.571443	0.20372	T	0.020485029	0.00609	0.038879808	0.03856	0.020485029	0.00608	0.038879808	0.03856	-4.767	0.34204	T	.	.	0.073	0.04681	B	.	.	-0.784760	0.01137	0.053	0.72339290996816985	0.09939	0.02209	0.06439	N	AEFDBI	0.100579	0.20221	N	-1.39096813674652	0.02722	0.1205978	-1.45753448257689	0.02703	0.1247861	0.181226047123012	0.17874	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.9	-5.22	0.02592	-4.185000	0.00316	-8.213000	0.01008	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.3389:0.1841:0.0:0.477	4.216	0.09991	740	0.53092	Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1027.98	36	chr20	3698086	.	C	T	1027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.52;DP=785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=-2.650e-01;SOR=0.735	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1128	20	0	1	0
chr20	3703275	3703275	C	T	exonic	SIGLEC1	.	nonsynonymous SNV	SIGLEC1:NM_001367089:exon5:c.G1150A:p.D384N	.	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.151	B	0.232	B	0.001	D	1.000	N	2.95	M	-1.45	T	-0.267	T	0.528	D	0.166	1.453	10.80	3.14	2.421	0.461	9.399	0.330	0.0425674091489	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796680284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.19157	T	0.134	0.34241	T	0.151	0.28027	B	0.232	0.38314	B	0.000780	0.41888	D	0.000000	1	0.08975	N	2.415	0.69758	M	-1.45	0.80899	T	-3.54	0.68651	D	0.313	0.35301	-0.2674	0.75882	T	0.528	0.82463	D	10	0.7025489	0.72535	D	0.042567	0.60531	D	0.330	0.65226	0.852	0.95318	0.808399012084	0.80660	0.9018971472833894	0.90161	0.342334712265	0.36172	0.466462224722	0.34196	T	0.297711	0.67031	T	-0.066864	0.41826	T	-0.333822	0.41043	T	0.743036866188049	0.42901	D	0.719228	0.33234	T	0.10583206	0.25023	0.122841455	0.29627	0.10583206	0.25023	0.122841455	0.29626	-6.365	0.49236	T	.	.	0.120	0.24733	B	.	.	1.598037	0.20432	14.75	0.99472255825992739	0.66419	0.09625	0.15339	N	AEFDBI	0.150718	0.27506	N	-0.347061199764339	0.27380	1.501763	-0.426134284539963	0.24234	1.325909	5.90871555410028E-4	0.07390	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.542086	0.14980	0	.	.	5.2	3.14	0.35196	1.001000	0.29384	0.098000	0.14610	0.599000	0.40250	0.140000	0.23505	0.002000	0.18203	0.003000	0.05239	0.0:0.7643:0.1492:0.0865	9.399	0.37583	744	0.52588	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2427.98	34	chr20	3703275	.	C	T	2427.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.392;DP=904;ExcessHet=0.0000;FS=1.140;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=-6.870e-01;SOR=0.575	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1251	20	0	1	0
chr20	3754520	3754520	C	T	splicing	C20orf27	NM_001258429:exon5:c.302-1G>A;NM_001258430:exon5:c.302-1G>A;NM_001039140:exon5:c.377-1G>A	.	.	.	.	.	.	.	.	.	.	.	0.9999	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.726	15.07	4.82	2.677	6.276	15.809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26167	0.79684	D	0.138094	0.79421	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.143698	0.86130	28.8	0.99485474608404345	0.67124	0.90604	0.51918	D	AEFDBCI	.	.	.	1.02435062358432	0.96444	14.70378	0.832426737834642	0.91949	11.15412	0.999999763489252	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.283776	0.05401	0	0.24341	0.04801	0	0.978366	0.82470	4.82	4.82	0.61641	4.827000	0.62413	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.384000	0.26424	0.0:1.0:0.0:0.0	15.809	0.78318	779	0.47767	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2928.08	37	chr20	3754520	.	C	T	2928.08	.	AC=2;AF=0.048;AN=42;DP=817;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.82;SOR=0.999	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	1	0	0
chr20	3758560	3758560	C	A	exonic	C20orf27	.	nonsynonymous SNV	C20orf27:NM_001039140:exon3:c.G213T:p.E71D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.997	D	0.941	D	0.000	U	0.997	D	0.695	N	.	.	-1.055	T	0.116	T	0.394	2.138	13.11	3.03	0.825	1.835	9.345	0.039	0.00652344141036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.20230	T	0.093	0.39799	T	0.069	0.23796	B	0.031	0.21939	B	0.000030	0.55875	U	0.068212	0.996872	0.43474	D	1.545	0.39105	L	.	.	.	-1.37	0.36586	N	0.418	0.45803	-1.0551	0.13013	T	0.116	0.41120	T	9	0.11211845	0.21020	T	0.006523	0.17186	T	0.089	0.25827	0.378	0.39319	0.236278675362	0.23226	0.4044629939666619	0.40362	0.219943266305	0.24538	.	.	.	0.043469	0.26512	T	-0.0475091	0.44826	T	-0.30602	0.44086	T	0.484621047973633	0.32067	T	0.671933	0.28057	T	0.061830804	0.12847	0.06956585	0.14674	0.061830804	0.12846	0.06956585	0.14674	-3.219	0.14537	T	.	.	0.182	0.39494	B	.;.;.	.;.;.	2.318434	0.29686	18.20	0.99271868779899008	0.57593	0.91736	0.54154	D	AEFBI	0.490974	0.52823	N	-0.166215584547436	0.34547	1.973217	-0.0956811214337003	0.35568	2.059353	0.894322025121912	0.25927	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.96	3.03	0.34070	2.030000	0.40728	1.408000	0.26256	-0.182000	0.10109	0.994000	0.38300	1.000000	0.68203	0.911000	0.44643	0.0:0.826:0.0:0.174	9.345	0.37265	744	0.52588	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1190.98	39	chr20	3758560	.	C	A	1190.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.809e+00;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.93;ReadPosRankSum=0.685;SOR=0.662	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1293	20	0	1	0
chr20	3779298	3779298	G	C	exonic	SPEF1	.	nonsynonymous SNV	SPEF1:NM_015417:exon3:c.C276G:p.I92M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.999	D	0.995	D	0.000	D	0.504	N	1.91	M	1.72	T	-0.865	T	0.097	T	0.693	1.747	11.80	-8.19	-1.612	-2.872	11.430	0.311	0.0348056656978	.	.	1.596e-05	0	0	0	0	2.832e-05	0	0	6.5e-06	1	154602	rs760651917	9.671e-06	9.577e-06	1.371e-05	5.571e-06	1.268e-05	5.61e-06	4.39e-06	7.36e-06	5.75e-06	0	0	0	0	0	0	1.268e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.008	0.67890	D	0.999	0.77913	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.504035	0.31702	N	2.215	0.62545	M	1.72	0.26588	T	-1.86	0.43524	N	0.653	0.66358	-0.8652	0.50886	T	0.097	0.36367	T	10	0.79265016	0.78795	D	0.034806	0.55924	D	0.311	0.63269	0.728	0.86198	0.0482279557977	0.04254	0.5870838217804499	0.58638	1.35797883796	0.84233	0.543589711189	0.44953	T	0.062582	0.31953	T	-0.110817	0.34635	T	-0.320718	0.42495	T	0.277179470861209	0.24052	T	0.766023	0.39401	T	0.41953024	0.62060	0.5774966	0.75518	0.41953024	0.62061	0.5774966	0.75519	-9.766	0.72498	D	.	.	0.247	0.48124	B	.	.	0.020388	0.04423	1.158	0.98167119715769346	0.38822	0.02061	0.06149	N	AEFDBI	0.061348	0.11722	N	-0.918430028913297	0.10411	0.4973875	-1.23107822692097	0.05417	0.2580686	0.999999929634572	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.61531	0.40942	0	0.63947	0.58350	0	.	.	4.73	-8.19	0.00922	-2.198000	0.01324	-1.862000	0.04593	-1.750000	0.00690	0.000000	0.06391	0.000000	0.08366	0.069000	0.16583	0.7467:0.0:0.1518:0.1015	11.430	0.49278	782	0.47442	CH-like domain in sperm protein|Calponin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1758.98	33	chr20	3779298	.	G	C	1758.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.52;DP=832;ExcessHet=0.0000;FS=0.687;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.42;ReadPosRankSum=-8.930e-01;SOR=0.577	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1443	20	0	1	0
chr20	3784707	3784707	G	C	exonic	CENPB	.	nonsynonymous SNV	CENPB:NM_001810:exon1:c.C1777G:p.R593G,	.	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.423	B	0.366	B	0.703	U	0.951	N	0.55	N	1.57	T	-0.983	T	0.057	T	0.447	1.488	10.92	2.03	0.156	1.565	4.186	0.141	0.00871899157906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	0.423	0.35444	B	0.366	0.43381	B	0.703243	0.10076	U	0.782790	0.950792	0.26493	N	0.805	0.20218	L	1.57	0.29342	T	-1.17	0.29933	N	0.309	0.34874	-0.9828	0.34351	T	0.057	0.23980	T	10	0.23637578	0.40718	T	0.008719	0.23025	T	0.141	0.37795	0.624	0.75916	0.285775778912	0.28195	0.39394845110703003	0.39309	1.70176493166	0.90331	0.390411317348	0.23728	T	0.051483	0.28893	T	-0.122436	0.32728	T	-0.413648	0.31806	T	0.343560039930069	0.26764	T	0.509649	0.16214	T	0.123810895	0.29065	0.073782936	0.16069	0.123810895	0.29064	0.073782936	0.16069	-2.845	0.08605	T	.	.	0.089	0.11989	B	.	.	2.947821	0.39217	20.9	0.97287778695400051	0.33214	0.75520	0.36980	D	AEFDGBHCI	0.374693	0.45950	N	-0.13032014952447	0.36075	2.080495	-0.0492583024420631	0.37522	2.198118	0.999999995691057	0.74766	0.741868	0.97996	0	0.774882	0.99574	0	0.698795	0.65105	0	0.638787	0.57140	0	.	.	5.15	2.03	0.25714	1.805000	0.38520	5.507000	0.48788	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.203:0.0:0.617:0.18	4.186	0.09856	789	0.46346	Centromere protein CENP-B, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1191.98	41	chr20	3784707	.	G	C	1191.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.67;DP=806;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=-1.017e+00;SOR=0.645	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1071	20	0	1	0
chr20	3801370	3801370	C	G	exonic	CDC25B	.	nonsynonymous SNV	CDC25B:NM_001287524:exon4:c.C246G:p.I82M	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	1.0	D	1.0	D	0.000	D	0.977	D	1.445	L	1.86	T	-1.019	T	0.094	T	0.433	2.130	13.08	2.46	1.171	0.720	6.007	0.161	0.0149374873807	.	0.000798722	0.0005	0	0	0	0	0	0	0.0039	0.000414	64	154602	rs554137303	0.0002	0.0002	0.0001	0.0003	0.0033	0.0002	0.0002	0.0030	0.0029	0	0	0	0	0	0.0002	8.998e-06	0.0004	0.0033	7.222e-05	7.217e-05	3.855e-05	0.0001	0.0023	3.968e-05	3.125e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.204	0.20683	T	0.2	0.30339	T	0.999	0.90584	D	0.992	0.97372	D	0.000068	0.52346	D	0.135599	0.976735	0.39302	D	2.28	0.64929	M	1.86	0.24285	T	-0.61	0.24676	N	0.275	0.43417	-1.0193	0.23943	T	0.094	0.35578	T	10	0.009481549	0.00214	T	0.014937	0.35377	T	0.161	0.41658	0.454	0.51775	0.259504319725	0.25562	0.1827236561281255	0.18191	0.885901989578	0.69990	0.608533680439	0.54108	T	0.00981	0.43418	T	-0.42049	0.01698	T	-0.377619	0.36001	T	0.113546176135258	0.13787	T	0.59994	0.47714	T	0.13199583	0.30749	0.1113303	0.26854	0.13199583	0.30749	0.1113303	0.26853	-2.711	0.07396	T	.	.	0.165	0.42067	B	.;.;.;.;.	.;.;.;.;.	3.862805	0.56034	23.7	0.9921946533876137	0.55839	0.73309	0.35861	D	AEFBCI	0.225322	0.34943	N	0.279254488823395	0.55098	3.674149	0.22626323854982	0.51310	3.314579	0.992220909467733	0.32763	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	4.41	2.46	0.29032	1.308000	0.33133	2.196000	0.31247	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.77:0.0:0.23	6.007	0.18783	814	0.42100	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1456.98	35	chr20	3801370	.	C	G	1456.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.00;DP=833;ExcessHet=0.0000;FS=0.713;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=-6.740e-01;SOR=0.659	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr20	3803192	3803192	G	C	exonic	CDC25B	.	nonsynonymous SNV	CDC25B:NM_001287524:exon9:c.G766C:p.G256R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.805	M	1.81	T	-0.672	T	0.200	T	0.989	4.476	23.9	5.24	2.630	7.128	16.698	0.774	0.123202022054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0011	0.0007	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0006	0	0.0002	7.607e-05	0	0.0002	0.0008	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.085	0.87354	M	1.81	0.25182	T	-7.58	0.95276	D	0.931	0.98268	-0.6717	0.61752	T	0.200	0.55640	T	10	0.98157537	0.98189	D	0.123202	0.80433	D	0.774	0.92419	0.92	0.98568	0.736929849786	0.73457	0.9132364924811667	0.91297	2.14713465814	0.95289	0.696103453636	0.66582	T	0.201973	0.83660	T	0.280949	0.81396	D	0.165788	0.81157	D	0.999002754688263	0.95858	D	0.989968	0.96869	D	0.92810935	0.94047	0.8602535	0.92196	0.92810935	0.94048	0.8602535	0.92197	-11.248	0.81537	D	.	.	0.994	0.95995	P	.;.;.;.;.	.;.;.;.;.	5.603180	0.92472	32	0.99900572155913103	0.97275	0.97177	0.73143	D	AEFGBCI	0.864053	0.78274	D	0.851518238386656	0.89196	9.872593	0.791774268680612	0.89217	9.884684	0.999999999996727	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.420000	0.79394	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:1.0:0.0	16.698	0.85199	809	0.43032	Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	3189.23	101	chr20	3803192	.	G	C	3189.23	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-1.821e+00;DP=2547;ExcessHet=20.9642;FS=188.196;InbreedingCoeff=-0.6177;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=1.88;ReadPosRankSum=1.63;SOR=13.596	GT:AD:DP:GQ:PL	0/1:89,47:152:99:238,0,1511	5	0	16	0
chr20	3889432	3889432	-	G	exonic	PANK2	.	frameshift insertion	PANK2:NM_001324192:exon1:c.333dupG:p.L115Afs*66	HARP syndrome, Autosomal recessive;Neurodegeneration with brain iron accumulation 1, Autosomal recessive	.	2	1347	162	10	1	183	0.0632823	.	.	1315110	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0	0	0.0011	3.84e-05	1	26028	rs529267374	3.404e-05	3.694e-05	2.247e-05	4.583e-05	0.0005	2.636e-05	2.331e-05	0.0004	0.0003	0	0	0	0	2.506e-05	0	1.833e-06	8.54e-05	0.0005	1.97e-05	1.969e-05	0	4.029e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	0	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3297.39	35	chr20	3889432	.	T	A,TG	3297.39	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=0.640;DP=907;ExcessHet=0.3300;FS=2.747;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=12.73;ReadPosRankSum=0.397;SOR=0.876	GT:AD:DP:GQ:PL	0/0:41,0,0:41:99:0,101,1132,101,1132,1132	18	0	2	0
chr20	4724632	4724632	G	C	exonic	PRND	.	nonsynonymous SNV	PRND:NM_012409:exon2:c.G81C:p.R27S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.004	N	1.000	N	2.215	M	0.84	T	-0.740	T	0.239	T	0.467	2.598	14.65	-2.5	-0.409	-0.125	12.488	0.196	0.0302415521375	.	.	2.481e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs757042575	1.095e-05	1.094e-05	4.084e-06	1.788e-05	9.275e-05	6.48e-06	5.24e-06	4.579e-05	3.272e-05	0	2.236e-05	0	0	0	0	6.295e-06	0	9.275e-05	6.571e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.004396	0.33795	N	0.134843	0.999928	0.19486	N	2.455	0.71248	M	0.84	0.47477	T	-2.22	0.49846	N	0.205	0.22742	-0.7395	0.58478	T	0.239	0.60619	T	10	0.30076218	0.47621	T	0.030242	0.52590	D	0.196	0.47777	0.368	0.37687	0.638930745872	0.63595	0.49985981086916353	0.49906	0.422609289591	0.42753	0.341062694788	0.16597	T	0.236077	0.60348	T	-0.25978	0.12925	T	-0.374264	0.36390	T	0.862051010131836	0.51238	D	0.90251	0.65969	D	0.24587667	0.47551	0.32400817	0.58328	0.24587667	0.47551	0.32400817	0.58327	-2.82	0.08369	T	.	.	0.579	0.68002	P	.	.	1.735519	0.22085	15.48	0.99266324369413061	0.57390	0.18276	0.20193	N	AEFDBI	0.115131	0.22650	N	-0.0309773664497907	0.40455	2.402844	-0.23715152820287	0.30217	1.699428	0.883195662576451	0.25668	0.497415	0.19182	0	0.547309	0.14657	0	0.48864	0.07692	0	0.542086	0.14980	0	.	.	5.47	-2.5	0.06015	-0.047000	0.11917	-0.011000	0.13060	0.676000	0.76740	0.900000	0.31427	0.087000	0.22477	0.222000	0.22517	0.2649:0.0:0.7351:0.0	12.488	0.55224	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1423.98	34	chr20	4724632	.	G	C	1423.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.458;DP=858;ExcessHet=0.0000;FS=0.797;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.83;ReadPosRankSum=0.233;SOR=0.826	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr20	5069330	5069330	C	A	exonic	TMEM230	.	nonsynonymous SNV	TMEM230:NM_001330987:exon4:c.G242T:p.R81L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.233e-07	3.42e-06	0	1.466e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.728e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.23253	.	.	.	.	.	.	.	0.086243	0.14639	T	.	.	.	.	.	.	.	0.195762928549	0.19159	.	.	.	.	.	.	.	0.006993	0.06413	T	-0.439054	0.01310	T	-0.868447	0.00757	T	.	.	.	0.347365	0.07649	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.19958	B	.;.	.;.	-0.222496	0.02979	0.445	0.70096944835184782	0.09185	0.00979	0.03733	N	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.80073855429872	0.24181	0.120566	0.03089	0	0.121304	0.03410	0	0.083675	0.02720	0	0.092715	0.02821	0	0.062361	0.14921	1.53	1.53	0.22224	-0.507000	0.06434	-1.482000	0.05340	-0.183000	0.09960	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.2233:0.0:0.7767	3.499	0.07226	922	0.19044	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	868.98	34	chr20	5069330	.	C	A	868.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.832;DP=747;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=-5.580e-01;SOR=0.823	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1241	20	0	1	0
chr20	5952484	5952484	A	G	exonic	MCM8	.	nonsynonymous SNV	MCM8:NM_001281520:exon3:c.A209G:p.D70G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.035	B	0.048	B	0.000	D	1.000	D	1.735	L	1.48	T	-1.090	T	0.089	T	0.705	2.543	14.46	6.07	2.326	7.190	16.641	0.139	.	7.7e-05	0.00439297	0.0016	0	0	0	0	0	0.0011	0.0115	0.0013777	213	154602	rs145498575	0.0006	0.0006	0.0004	0.0009	0.0097	0.0006	0.0006	0.0092	0.0090	5.974e-05	0	0	2.521e-05	0	0.0002	1.799e-06	0.0009	0.0097	0.0003	0.0003	0.0002	0.0005	0.0108	0.0003	0.0002	0.0084	0.0076	2.406e-05	0	0	0	0	0	0	0	0	0.0108	0.118	0.29288	T	0.258	0.25670	T	0.012	0.20614	B	0.013	0.24975	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.425	0.70256	M	1.48	0.31731	T	-2.13	0.48354	N	0.679	0.68863	-1.0901	0.05515	T	0.089	0.34298	T	10	0.0064270496	0.00146	T	.	.	.	0.139	0.37390	.	.	0.456830177556	0.45309	0.6377711437502377	0.63711	0.380991170605	0.39459	0.50742995739	0.39863	T	0.040747	0.25628	T	-0.278036	0.10877	T	-0.161768	0.58192	T	0.131447303121071	0.15516	T	0.918808	0.70803	D	0.15492493	0.35041	0.2144587	0.45997	0.17400499	0.38180	0.123851694	0.29858	-2.132	0.06672	T	.	.	0.238	0.50194	B	.;.;.;.;.	.;.;.;.;.	2.952193	0.39288	20.9	0.99193103868106136	0.55053	0.98918	0.88611	D	AEFBI	0.786901	0.71684	D	0.0950207580601129	0.46230	2.86663	0.256093240403545	0.52996	3.470944	0.999999999993006	0.74766	0.732398	0.92422	0	0.662677	0.63036	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	6.07	6.07	0.98675	7.244000	0.77673	11.140000	0.87044	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.664000	0.33081	1.0:0.0:0.0:0.0	16.641	0.84955	622	0.65860	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1374.98	46	chr20	5952484	.	A	G	1374.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.572e+00;DP=848;ExcessHet=0.0000;FS=0.647;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.50;ReadPosRankSum=-9.190e-01;SOR=0.788	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr20	6006352	6006352	C	T	exonic	CRLS1	.	nonsynonymous SNV	CRLS1:NM_019095:exon1:c.C106T:p.P36S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.0	B	0.001	B	0.001	D	1.000	N	0.695	N	.	.	-1.024	T	0.052	T	0.139	0.073	4.394	1.09	0.067	1.413	6.298	0.026	0.00842250056515	.	.	.	.	.	.	.	.	.	.	.	.	.	rs982818611	6.497e-06	2.189e-05	4.775e-06	8.29e-06	8.02e-06	2.8e-06	2.02e-06	3.45e-06	2.49e-06	0	0	0	0	0	0	8.02e-06	0	0	1.317e-05	1.314e-05	1.287e-05	1.349e-05	2.945e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.945e-05	0	0	0.735	0.11882	T	0.512	0.17166	T	0.0	0.02946	B	0.001	0.04355	B	0.000920	0.41128	D	0.198140	1	0.08975	N	0.805	0.20218	L	.	.	.	0.63	0.05035	N	0.121	0.11197	-1.0235	0.22573	T	0.052	0.21999	T	9	0.05118081	0.04961	T	0.008423	0.22282	T	0.026	0.05648	0.316	0.29258	0.104622674875	0.10061	0.29262828537979124	0.29175	0.11373131554	0.12830	0.740329861641	0.73021	T	0.025798	0.19218	T	-0.228221	0.16883	T	-0.5656	0.15854	T	0.0255575874263743	0.01346	T	0.508649	0.16166	T	0.022030296	0.00840	0.051978238	0.08472	0.022030296	0.00840	0.051978238	0.08471	-3.997	0.23759	T	.	.	0.099	0.17360	B	.;.	.;.	1.111653	0.14965	11.48	0.75427277150054195	0.11071	0.18692	0.20364	N	ALL	0.037198	0.05080	N	-1.19129258992827	0.05131	0.2331869	-1.19070589821155	0.06064	0.2907835	0.999999999998014	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.23	1.09	0.19517	1.141000	0.31140	0.604000	0.19959	-0.349000	0.05595	0.004000	0.16614	0.000000	0.08366	0.004000	0.06068	0.0:0.5385:0.3588:0.1027	6.298	0.20305	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	271.98	33	chr20	6006352	.	C	T	271.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.92;DP=629;ExcessHet=0.0000;FS=4.320;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.31;ReadPosRankSum=-1.143e+00;SOR=1.546	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,768	20	0	1	0
chr20	6041600	6041600	A	T	exonic	LRRN4	.	nonsynonymous SNV	LRRN4:NM_152611:exon5:c.T1645A:p.Y549N,	.	.	416	1100	6	0	0	6	0.00271985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.995	D	0.922	D	0.000	D	1.000	D	2.61	M	-1.67	D	0.432	D	0.629	D	0.725	3.907	19.87	5.01	1.880	5.761	14.732	0.624	0.215719070692	0.0052	0.00119808	0.0038	0.0016	0.0010	0	0.0008	0.0058	0.0038	0.0016	0.0039715	614	154602	rs145844426	0.0065	0.0065	0.0067	0.0064	0.0080	0.0064	0.0064	0.0079	0.0078	0.0007	0.0014	8.734e-05	0	0.0012	0	0.0080	0.0049	0.0018	0.0039	0.0039	0.0041	0.0036	0.0064	0.0036	0.0035	0.0059	0.0057	0.0012	0.0429	0.0017	0	0	0.0026	0.0034	0.0064	0.0009	0.0019	0.004	0.65419	D	0.013	0.63109	D	0.995	0.67487	D	0.922	0.65739	D	0.000001	0.62929	D	0.000000	1	0.81001	D	2.9	0.83903	M	-1.67	0.82806	D	-7.95	0.96317	D	0.829	0.82458	0.432	0.89576	D	0.629	0.86989	D	10	0.042655647	0.03035	T	0.215719	0.87522	D	0.624	0.85459	.	.	0.716914997584	0.71442	0.5077078270125617	0.50692	1.59197675945	0.88537	0.579379916191	0.49998	T	0.247545	0.61720	T	-0.118374	0.33390	T	0.066582	0.74683	D	0.0515867382445556	0.05775	T	0.846715	0.52677	T	0.7661571	0.81818	0.7134283	0.83090	0.7661571	0.81819	0.7134283	0.83091	-11.822	0.83973	D	.	.	0.745	0.74854	P	.	.	4.785229	0.77595	26.7	0.99064892544480621	0.51574	0.96091	0.67491	D	AEFDBCI	0.764956	0.70159	D	0.653061064475797	0.76567	6.510378	0.587334835685367	0.74031	6.068433	0.999995352873776	0.74766	0.498214	0.20090	0	0.572659	0.20510	0	0.486962	0.07600	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	5.556000	0.67011	11.108000	0.86264	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.852000	0.40310	1.0:0.0:0.0:0.0	14.732	0.69002	773	0.48803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1524.98	38	chr20	6041600	.	A	T	1524.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=852;ExcessHet=0.0000;FS=4.071;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.89;ReadPosRankSum=-1.930e-01;SOR=0.687	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr20	6084039	6084039	C	T	splicing	FERMT1	NM_017671:exon13:c.1718+1G>A	.	.	Kindler syndrome, Autosomal recessive	YES	.	.	.	.	.	.	.	1.0000	0.954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.058	20.8	4.8	2.365	7.758	18.243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.697050	0.93091	33	0.99548748988546631	0.71023	0.99001	0.89785	D	AEFDBI	.	.	.	1.09719036326994	0.98081	17.38615	0.922481559643636	0.96479	14.74772	0.99999999987483	0.74766	0.106106	0.02776	0	0.059962	0.00310	0	0.125526	0.03468	0	0.057018	0.00518	0	0.978593	0.82806	4.8	4.8	0.61157	7.905000	0.86479	7.656000	0.63963	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.935000	0.47363	0.0:1.0:0.0:0.0	18.243	0.89912	808	0.43318	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2626.98	35	chr20	6084039	.	C	T	2626.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.918;DP=2153;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.18;ReadPosRankSum=1.72;SOR=0.707	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1288	20	0	1	0
chr20	6084158	6084158	C	T	exonic	FERMT1	.	nonsynonymous SNV	FERMT1:NM_017671:exon13:c.G1600A:p.A534T,	Kindler syndrome, Autosomal recessive	.	0	1492	28	2	0	32	0.0106101	.	.	336178	not_provided|Kindler_syndrome	MedGen:C3661900|MONDO:MONDO:0008260,MedGen:C0406557,OMIM:173650,Orphanet:2908,Orphanet:306539	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.25	T	0.924	P	0.272	B	0.000	D	0.993	D	0.95	L	-0.64	T	-0.861	T	0.143	T	0.174	2.153	13.16	3.74	1.089	3.058	12.942	0.125	.	0.0042	0.00199681	0.0066	0.0014	0.0031	0.0003	0.0029	0.0078	0.0014	0.0120	0.0056856	879	154602	rs2232078	0.0065	0.0065	0.0062	0.0068	0.0129	0.0064	0.0063	0.0122	0.0120	0.0005	0.0032	0.0022	5.046e-05	0.0036	0.0077	0.0067	0.0067	0.0129	0.0046	0.0046	0.0045	0.0046	0.0104	0.0043	0.0042	0.0081	0.0073	0.0011	0	0.0037	0.0032	0	0.0035	0.0034	0.0071	0.0057	0.0104	0.546	0.14793	T	0.624	0.08134	T	0.924	0.51285	P	0.272	0.39956	B	0.000005	0.62929	D	0.107079	0.992975	0.41798	D	1.385	0.34509	L	-0.64	0.72125	T	-0.8	0.22078	N	0.214	0.25622	-0.8614	0.51162	T	0.143	0.46514	T	10	0.009170681	0.00207	T	.	.	.	0.125	0.34456	.	.	0.799874578581	0.79800	0.2138898619654852	0.21304	0.437021590395	0.43776	0.623721897602	0.56255	T	0.152834	0.49341	T	-0.416639	0.01798	T	-0.360862	0.37953	T	0.0175300740710957	0.00488	T	0.846715	0.52677	T	0.10682079	0.25259	0.1019157	0.24411	0.108017944	0.25540	0.1019157	0.24411	-5.158	0.38512	T	0.10260011356424363	0.07817	0.083	0.09433	B	.;.	.;.	3.663716	0.52058	23.2	0.99304286532311514	0.58759	0.90828	0.52337	D	AEFBI	0.186933	0.31423	N	0.0734913552988999	0.45229	2.782964	0.120476683083129	0.45597	2.820088	0.166826260636014	0.17676	0.732398	0.92422	0	0.59043	0.45803	0	0.743671	0.96076	0	0.668105	0.65232	0	.	.	4.68	3.74	0.42108	2.578000	0.45716	4.002000	0.41083	0.599000	0.40250	0.981000	0.35396	0.999000	0.35428	0.966000	0.53164	0.0:0.9208:0.0:0.0791	12.942	0.57745	808	0.43318	FERM central domain|Band 4.1 domain;FERM central domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2076.98	35	chr20	6084158	.	C	T	2076.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.61;DP=1374;ExcessHet=0.0000;FS=1.477;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=-5.580e-01;SOR=0.535	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1288	20	0	1	0
chr20	9515528	9515528	T	C	exonic	LAMP5	.	nonsynonymous SNV	LAMP5:NM_001199897:exon2:c.T140C:p.I47T	.	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.999	D	0.000	D	1.000	D	0.895	L	1.53	T	-0.743	T	0.235	T	0.902	4.152	21.5	5.65	2.163	7.659	15.888	0.381	0.082153380445	.	.	4.943e-05	0	0	0	0	0	0.0011	0.0003	3.88e-05	6	154602	rs769925728	2.121e-05	2.121e-05	2.178e-05	2.063e-05	0.0003	1.52e-05	1.324e-05	0.0002	0.0002	0	4.472e-05	0	0	0	0	1.799e-06	1.656e-05	0.0003	1.314e-05	1.313e-05	0	2.691e-05	0.0002	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.135	0.59519	M	0.36	0.57880	T	-0.22	0.10480	N	0.821	0.83987	-0.7426	0.58319	T	0.235	0.60197	T	9	0.58488923	0.66054	D	0.082153	0.73838	D	0.381	0.69863	0.491	0.57732	0.486422812247	0.48275	0.6229760813932035	0.62230	0.413707898932	0.42067	0.735642433167	0.72332	T	0.007111	0.06527	T	0.117346	0.66105	D	0.205082	0.83402	D	0.44144176500753	0.30482	T	0.891811	0.63771	D	0.45622498	0.64435	0.51408565	0.71923	0.45622498	0.64435	0.51408565	0.71924	-3.712	0.19496	T	.	.	0.740	0.83396	P	.;.	.;.	4.994749	0.82829	27.9	0.99844514402563656	0.92489	0.95334	0.64316	D	AEFDBCI	0.909118	0.86533	D	0.618946825689038	0.74373	6.121831	0.658928105762914	0.79278	7.04855	0.999999999999825	0.74766	0.59774	0.34471	0	0.587265	0.34161	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	5.65	5.65	0.86881	7.849000	0.85209	7.871000	0.71963	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.888	0.79047	659	0.61982	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	799.98	77	chr20	9515528	.	T	C	799.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.744e+00;DP=761;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.39;ReadPosRankSum=0.926;SOR=0.709	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1245	20	0	1	0
chr20	9516096	9516096	G	A	exonic	LAMP5	.	nonsynonymous SNV	LAMP5:NM_012261:exon3:c.G334A:p.D112N,	.	.	421	1078	22	1	0	24	0.0110092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	B	0.007	B	0.000	N	1.000	D	0.345	N	1.48	T	-1.093	T	0.043	T	0.019	2.463	14.19	4.08	0.881	3.984	12.568	0.072	0.010784639031	.	0.00119808	0.0009	0	0.0002	0	0	0.0001	0.0026	0.0092	0.0008279	128	154602	rs200509210	0.0005	0.0005	0.0003	0.0007	0.0065	0.0005	0.0005	0.0060	0.0058	0	0.0002	0.0003	5.085e-05	0	0.0037	0.0001	0.0008	0.0065	0.0002	0.0002	0.0002	0.0003	0.0052	0.0002	0.0002	0.0036	0.0031	0	0	6.531e-05	0.0003	0	0	0.0034	0.0001	0.0005	0.0052	0.202	0.20230	T	0.429	0.13752	T	0.001	0.07471	B	0.007	0.12992	B	0.000036	0.55875	N	0.189333	0.99512	0.81001	D	1.175	0.29870	L	1.48	0.31731	T	-0.84	0.22944	N	0.144	0.14480	-1.0935	0.04974	T	0.043	0.18451	T	9	0.0056346953	0.00125	T	0.010785	0.27705	T	0.072	0.21020	.	.	0.0986583533028	0.09354	0.38427635128069104	0.38342	0.0586717605693	0.06507	0.443458497524	0.31050	T	0.002241	0.01642	T	-0.640608	0.00083	T	-0.68896	0.06449	T	0.0260834277092017	0.01417	T	0.70423	0.31438	T	0.1910646	0.40718	0.15757488	0.36839	0.1910646	0.40718	0.15757488	0.36838	-4.421	0.29840	T	.	.	0.088	0.11558	B	.	.	2.559794	0.33151	19.25	0.99532716215292638	0.69963	0.88439	0.48367	D	AEFBCI	0.427236	0.49126	N	-0.235245939257997	0.31697	1.779919	-0.0266056507923178	0.38518	2.270409	0.999998762075356	0.74766	0.766844	0.99359	0	0.851219	0.99844	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	6.01	4.08	0.46880	3.572000	0.53593	5.883000	0.50667	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.1339:0.0:0.8661:0.0	12.568	0.55670	654	0.62520	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	710.98	33	chr20	9516096	.	G	A	710.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.25;DP=844;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.23;ReadPosRankSum=-3.004e+00;SOR=0.789	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr20	10049705	10049705	C	T	exonic	ANKEF1	.	nonsynonymous SNV	ANKEF1:NM_198798:exon6:c.C1136T:p.A379V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.954	P	0.437	B	0.000	D	0.977	D	1.67	L	-0.15	T	-0.803	T	0.214	T	0.653	0.153	4.825	5.6	2.788	3.864	15.463	0.233	0.0507228094859	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	0.08237	T	1.0	0.01155	T	0.954	0.54400	P	0.437	0.45591	B	0.000426	0.44522	D	0.248859	0.976597	0.39290	D	1.79	0.46772	L	-0.15	0.65192	T	-0.22	0.10480	N	0.581	0.60241	-0.8033	0.54950	T	0.214	0.57560	T	10	0.6874958	0.71651	D	0.050723	0.64362	D	0.233	0.53499	0.619	0.75347	0.7457264781	0.74343	0.5138078995225664	0.51302	0.716833638651	0.62019	0.534552574158	0.43675	T	0.008667	0.07944	T	0.0446227	0.57649	T	-0.173679	0.57107	T	0.755097210407257	0.43572	D	0.757524	0.38090	T	0.07955835	0.18183	0.08178266	0.18613	0.07955835	0.18183	0.08178266	0.18613	-2.095	0.03562	T	.	.	0.28	0.51419	B	.;.	.;.	2.403080	0.30876	18.57	0.86540061954191816	0.16604	0.82540	0.41753	D	AEFDIJ	0.161342	0.28738	N	0.245821332840929	0.53431	3.512139	0.260173255748146	0.53229	3.492999	0.0330069554246567	0.14084	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.6	5.6	0.84997	3.887000	0.55910	5.937000	0.51416	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.135000	0.19760	0.0:0.862:0.138:0.0	15.463	0.75106	949	0.11373	Ankyrin repeat-containing domain;Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.125	207.1	75	chr20	10049705	.	C	T	207.1	.	AC=4;AF=0.125;AN=32;BaseQRankSum=-4.013e+00;DP=1811;ExcessHet=0.6776;FS=252.919;InbreedingCoeff=-0.1874;MLEAC=4;MLEAF=0.125;MQ=60.00;MQRankSum=0.00;QD=0.56;ReadPosRankSum=1.59;SOR=10.021	GT:AD:DP:GQ:PL	0/0:88,24:121:22:0,22,1954	12	0	4	5
chr20	10408774	10408774	T	C	exonic	MKKS	.	nonsynonymous SNV	MKKS:NM_018848:exon4:c.A1015G:p.I339V	Bardet-Biedl syndrome 6, Autosomal recessive;McKusick-Kaufman syndrome, Autosomal recessive	YES	3	1496	21	2	0	25	0.00828638	.	.	106463	not_provided|McKusick-Kaufman_syndrome|Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_6|not_specified	MedGen:C3661900|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700,Orphanet:2473|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231,Orphanet:110|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.13	T	0.008	B	0.042	B	0.977	N	1.000	N	0.515	N	-1.3	T	-0.868	T	0.258	T	0.662	0.374	6.028	-4.87	-0.854	-2.046	7.534	0.489	0.0291197997771	0.0030	0.00219649	0.0044	0.0002	0.0023	0	0.0063	0.0054	0.0044	0.0060	0.0042173	652	154602	rs137853909	0.0042	0.0042	0.0041	0.0043	0.0090	0.0041	0.0041	0.0071	0.0064	0.0005	0.0024	0.0023	2.521e-05	0.0081	0.0090	0.0043	0.0040	0.0056	0.0036	0.0036	0.0036	0.0036	0.0050	0.0034	0.0033	0.0046	0.0044	0.0004	0	0.0048	0.0029	0	0.0074	0.0102	0.0050	0.0057	0.0039	0.421	0.09806	T	0.821	0.03817	T	0.008	0.14655	B	0.042	0.24114	B	0.977114	0.07816	N	1.008790	0.999634	0.20820	N	0.575	0.15311	N	-1.3	0.79571	T	-0.52	0.16187	N	0.663	0.68950	-0.8682	0.50664	T	0.258	0.62823	T	10	0.009791404	0.00220	T	0.02912	0.51684	D	0.489	0.77656	.	.	0.455816718377	0.45207	0.266399546238906	0.26552	0.09311429178	0.10522	0.252166539431	0.03999	T	0.322819	0.69379	T	-0.28378	0.10270	T	-0.17528	0.56960	T	0.012114446485306	0.00193	T	0.593441	0.21910	T	0.02074044	0.00644	0.028641589	0.01119	0.020595802	0.00623	0.02819071	0.01033	-3.188	0.12334	T	0.09513167477338763	0.06441	0.064	0.01645	B	.;.	.;.	-0.691902	0.01340	0.074	0.63355510148389349	0.07202	0.08530	0.14447	N	AEFBI	0.132921	0.25241	N	-1.10111141240403	0.06624	0.3054509	-1.12856201002048	0.07158	0.3471643	0.999987309373211	0.51787	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.87	-4.87	0.02893	-1.552000	0.02280	-2.097000	0.04217	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.965000	0.52897	0.088:0.5145:0.0829:0.3146	7.534	0.26871	861	0.33516	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.04762	5703.08	34	chr20	10408774	.	T	C	5703.08	.	AC=2;AF=0.048;AN=42;DP=1082;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.04;SOR=1.650	GT:AD:DP:GQ:PL	0/0:82,0:82:99:0,120,1800	20	1	0	0
chr20	10598723	10598723	T	C	exonic	SLX4IP	.	nonsynonymous SNV	SLX4IP:NM_001009608:exon5:c.T287C:p.L96P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.005	M	1.83	T	-0.844	T	0.160	T	0.978	4.038	20.7	5.31	2.012	4.909	15.303	0.521	0.0419145369331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000004	0.62929	D	0.000000	1	0.81001	D	2.175	0.60977	M	1.83	0.24841	T	-5.27	0.84175	D	0.941	0.94786	-0.8441	0.52372	T	0.160	0.49363	T	10	0.8787596	0.87178	D	0.041915	0.60185	D	0.521	0.79643	0.621	0.75576	0.540472623666	0.53699	0.842809150015122	0.84241	0.607561866137	0.55563	0.580772340298	0.50194	T	0.190089	0.54451	T	0.221134	0.75883	D	0.0798674	0.75569	D	0.998978614807129	0.95761	D	0.693131	0.30283	T	0.92111516	0.93356	0.9132712	0.95921	0.92111516	0.93357	0.9132712	0.95922	-3.661	0.18744	T	.	.	0.701	0.73004	P	.	.	4.669294	0.74605	26.2	0.99897897822085546	0.97048	0.80543	0.40153	D	AEFDGBCIJ	0.680373	0.64409	D	0.662672227992803	0.77192	6.627457	0.631755354719469	0.77257	6.644872	0.99999999999693	0.74766	0.489673	0.17934	0	0.71359	0.82159	0	0.616094	0.41390	0	0.466023	0.07079	0	.	.	5.31	5.31	0.75063	4.964000	0.63410	7.759000	0.68265	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:0.0:0.0:1.0	15.303	0.73670	605	0.67457	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1420.98	35	chr20	10598723	.	T	C	1420.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.600e-01;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.62;ReadPosRankSum=0.881;SOR=0.721	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1114	20	0	1	0
chr20	13279833	13279833	C	G	exonic	ISM1	.	nonsynonymous SNV	ISM1:NM_080826:exon3:c.C578G:p.P193R,	.	.	427	1090	5	0	0	5	0.00228833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.177	B	0.1	B	0.001	D	1.000	D	0.895	L	0.99	T	-1.084	T	0.009	T	0.384	1.849	12.14	6.07	2.884	4.206	7.985	0.106	.	0.0007	0.0207668	0.0153	0.0022	0.0990	0.0432	0.0226	0.0016	0.0134	0.0021	0.0139131	2151	154602	rs3747933	0.0050	0.0050	0.0055	0.0045	0.0843	0.0049	0.0048	0.0821	0.0811	0.0011	0.0843	0.0007	0.0305	0.0236	0.0012	0.0003	0.0070	0.0023	0.0082	0.0082	0.0073	0.0090	0.0423	0.0078	0.0076	0.0377	0.0365	0.0020	0	0.0402	0.0023	0.0423	0.0219	0	0.0007	0.0081	0.0037	0.508	0.07545	T	0.648	0.06788	T	0.177	0.28923	B	0.1	0.30674	B	0.000770	0.41888	D	0.269523	0.615054	0.81001	D	1.355	0.33814	L	0.98	0.42122	T	-1.41	0.34795	N	0.144	0.14480	-1.0838	0.06628	T	0.009	0.03448	T	10	0.0027338564	0.00043	T	.	.	.	0.106	0.30130	.	.	.	.	0.47255277218773234	0.47174	0.160431110887	0.18105	0.377574324608	0.21911	T	0.01391	0.11944	T	-0.500488	0.00568	T	-0.422274	0.30815	T	0.0170706280561544	0.00454	T	0.872113	0.57861	D	0.051312458	0.09403	0.06273739	0.12319	0.051312458	0.09403	0.06273739	0.12319	-3.335	0.14193	T	.	.	0.076	0.05800	B	.	.	2.408556	0.30953	18.59	0.9654291165180402	0.30193	0.98315	0.81549	D	AEFBI	0.728596	0.67657	D	0.0404927520590241	0.43706	2.658343	0.25046004907842	0.52677	3.44082	0.998527050356906	0.37129	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	6.07	6.07	0.98675	3.935000	0.56272	4.922000	0.46051	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.896000	0.43308	0.0:0.8162:0.0:0.1838	7.985	0.29368	883	0.28872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	6565.08	40	chr20	13279833	.	C	G	6565.08	.	AC=2;AF=0.048;AN=42;DP=981;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.18;SOR=0.834	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	1	0	0
chr20	13717395	13717395	C	G	exonic	ESF1	.	nonsynonymous SNV	ESF1:NM_001276380:exon13:c.G2235C:p.K745N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.999	D	0.84	P	0.000	D	0.976	D	2.12	M	1.7	T	-0.983	T	0.119	T	0.23	3.428	17.59	4.94	1.634	1.174	11.148	0.134	0.014192919441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.40573	D	0.015	0.61642	D	0.999	0.77913	D	0.84	0.60170	P	0.000002	0.62929	D	0.056671	0.976224	0.39257	D	2.74	0.80084	M	1.7	0.26885	T	-3.24	0.65171	D	0.193	0.21188	-0.9832	0.34258	T	0.119	0.41735	T	10	0.25715512	0.43128	T	0.014193	0.34139	T	0.134	0.36365	0.295	0.25881	0.447012531364	0.44320	0.09742549684446385	0.09673	0.24590413445	0.27115	0.521299421787	0.41809	T	0.169738	0.51723	T	-0.165914	0.25855	T	-0.4761	0.24863	T	0.966610431671143	0.67640	D	0.741726	0.36078	T	0.3684711	0.58472	0.31301075	0.57300	0.3684711	0.58472	0.31301075	0.57299	-6.026	0.46497	T	.	.	0.297	0.52752	B	.	.	3.298203	0.45264	22.1	0.9987671896714001	0.95328	0.86850	0.46223	D	AEFGBI	0.239513	0.36146	N	0.486533052041385	0.66301	4.932731	0.477171145438844	0.66481	4.95761	0.999919706626708	0.45857	0.706548	0.73137	0	0.658105	0.61773	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	4.94	0.64645	0.919000	0.28312	2.721000	0.34312	0.599000	0.40250	0.971000	0.34370	1.000000	0.68203	1.000000	0.97212	0.0:0.8579:0.0:0.1421	11.148	0.47663	666	0.61362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	919.98	40	chr20	13717395	.	C	G	919.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.970e-01;DP=892;ExcessHet=0.0000;FS=1.894;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=-1.776e+00;SOR=0.779	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	20	0	1	0
chr20	16367717	16367717	G	A	exonic	KIF16B	.	nonsynonymous SNV	KIF16B:NM_001199866:exon23:c.C3608T:p.T1203I,	.	.	429	1085	5	3	0	11	0.00504356	.	.	3272418	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.013	B	0.015	B	0.208	N	0.999	N	.	.	-0.3	T	-0.859	T	0.192	T	0.034	1.929	12.41	4.19	1.257	1.006	9.354	0.131	0.0368852197753	0.0005	.	0.0004	0	0.0005	0	0	0.0006	0.0012	0.0003	0.0003363	52	154602	rs200790988	0.0004	0.0004	0.0004	0.0004	0.0123	0.0003	0.0003	0.0100	0.0092	0.0001	0.0005	0.0014	0	0	0.0123	0.0003	0.0007	0.0003	0.0004	0.0004	0.0004	0.0003	0.0006	0.0003	0.0003	0.0004	0.0004	9.62e-05	0	0.0003	0.0012	0	0	0.0102	0.0006	0.0005	0.0004	0.004	0.65419	D	0.016	0.60972	D	0.013	0.16609	B	0.015	0.17295	B	0.208494	0.16423	N	0.624961	1	0.21260	N	.	.	.	-0.3	0.67874	T	0.76	0.01978	N	0.068	0.04072	-0.8591	0.51327	T	0.192	0.54506	T	9	0.017835766	0.00383	T	0.036885	0.57273	D	0.131	0.35738	.	.	0.40722173914	0.40337	0.11140287648817028	0.11069	0.123377502336	0.13895	0.287554979324	0.08567	T	.	.	.	-0.463043	0.00941	T	-0.562357	0.16155	T	0.0449360836407612	0.04590	T	0.40256	0.10493	T	.	.	.	.	.	.	.	.	-4.514	0.31072	T	.	.	0.149	0.32874	B	.;.	.;.	2.084902	0.26522	17.15	0.99667190297099006	0.78330	0.12395	0.17242	N	AEFBI	0.075774	0.15228	N	-0.379598591114978	0.26197	1.427894	-0.304001719815444	0.27970	1.555867	0.103946326406357	0.16461	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.17	4.19	0.48645	1.082000	0.30415	3.365000	0.37889	0.665000	0.62972	0.002000	0.15269	0.916000	0.28226	0.935000	0.47363	0.076:0.1459:0.7781:0.0	9.354	0.37316	707	0.57054	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2087.98	33	chr20	16367717	.	G	A	2087.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.712;DP=813;ExcessHet=0.0000;FS=8.174;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.70;ReadPosRankSum=1.41;SOR=0.288	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1216	20	0	1	0
chr20	16379769	16379769	C	T	exonic	KIF16B	.	nonsynonymous SNV	KIF16B:NM_001199865:exon19:c.G2233A:p.E745K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.459	P	0.16	B	0.010	N	0.992	D	1.78	L	2.24	T	-1.107	T	0.039	T	0.286	1.194	9.854	2.39	0.246	4.217	8.116	0.087	0.0358879983977	.	.	9.06e-05	0	8.637e-05	0	0	0	0	0.0006	7.12e-05	11	154602	rs779078003	3.968e-05	3.967e-05	1.77e-05	6.188e-05	0.0006	3.113e-05	2.846e-05	0.0005	0.0005	0	0	0	0	0	0	8.993e-07	3.311e-05	0.0006	3.286e-05	3.284e-05	1.285e-05	5.381e-05	0.0008	1.261e-05	7.98e-06	0.0003	0.0002	0	0	0	0	0.0002	0	0	0	0	0.0008	0.004	0.65419	D	0.099	0.38891	T	0.055	0.36338	B	0.02	0.34752	B	0.009898	0.30155	N	0.365080	0.991946	0.41514	D	2.455	0.71248	M	2.24	0.17923	T	-1.25	0.37375	N	0.157	0.16308	-1.1073	0.03312	T	0.039	0.16806	T	10	0.049644083	0.04584	T	0.035888	0.56637	D	0.087	0.25287	0.158	0.06178	0.370424759081	0.36655	0.4029416664763969	0.40210	0.142267948534	0.16037	0.311781436205	0.12175	T	0.061839	0.31759	T	-0.42892	0.01504	T	-0.489727	0.23420	T	0.108358255765594	0.13253	T	0.968103	0.88413	D	0.059403535	0.12068	0.04787757	0.06991	0.059403535	0.12068	0.04787757	0.06991	-6.852	0.52945	T	.	.	0.101	0.22861	B	.;.;.	.;.;.	2.643621	0.34402	19.62	0.98812447265994785	0.46639	0.87134	0.46583	D	AEFBI	0.562842	0.57027	D	-0.380685250459575	0.26158	1.425452	-0.391042856898579	0.25263	1.388249	0.00371113324631948	0.10248	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.45	2.39	0.28492	4.257000	0.58607	2.029000	0.30245	0.599000	0.40250	0.996000	0.39380	0.261000	0.23984	0.191000	0.21631	0.0:0.7165:0.1355:0.1479	8.116	0.30105	768	0.49510	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2463.98	41	chr20	16379769	.	C	T	2463.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.252e+00;DP=1236;ExcessHet=0.0000;FS=4.979;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=0.952;SOR=1.057	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr20	17643047	17643047	C	T	exonic	RRBP1	.	nonsynonymous SNV	RRBP1:NM_001365613:exon4:c.G1993A:p.G665S	.	.	.	.	.	.	.	.	.	.	.	3316568	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.66	T	0.984	D	0.902	P	0.002	N	1.000	D	0.795	N	2.18	T	-0.984	T	0.152	T	0.629	4.080	21.0	4.63	1.363	5.907	13.505	0.198	0.0151787807206	.	0.000199681	0.0001	0	0.0003	0	0	0.0002	0	0	0.0001294	20	154602	rs182919204	0.0001	0.0001	0.0001	0.0001	0.0003	9.401e-05	8.883e-05	0.0001	0.0001	0	0.0001	0	0	0	0.0003	0.0001	6.623e-05	4.637e-05	6.566e-05	6.561e-05	3.854e-05	9.401e-05	0.0001	3.514e-05	2.614e-05	4.765e-05	3.339e-05	4.812e-05	0	6.531e-05	0	0	0	0	0.0001	0	0	0.342	0.25979	T	0.239	0.34716	T	0.984	0.60733	D	0.902	0.64047	P	0.002422	0.36574	N	0.000000	0.999997	0.58761	D	1.385	0.34509	L	2.18	0.51952	T	-2.75	0.64132	D	0.728	0.73285	-0.9840	0.34069	T	0.152	0.48118	T	10	0.1511957	0.28584	T	0.015179	0.35761	T	0.198	0.48105	.	.	0.67947023701	0.67674	0.2306478751169884	0.22979	0.479800245105	0.47006	0.501859009266	0.39086	T	0.110	0.42416	T	-0.189627	0.22314	T	-0.230728	0.51702	T	0.430900812149048	0.30094	T	0.952105	0.81652	D	0.08027614	0.18386	0.16474335	0.38148	0.08027614	0.18386	0.16474335	0.38147	-12.023	0.84963	D	.	.	0.129	0.37198	B	.;.;.;.;.;.	.;.;.;.;.;.	3.299342	0.45283	22.1	0.99748870998366068	0.84077	0.94274	0.60646	D	AEFBCI	0.862982	0.78141	D	0.331152024894291	0.57753	3.944044	0.370087410653682	0.59725	4.152997	0.999999994785278	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.56	4.63	0.57175	5.988000	0.70255	4.873000	0.45587	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.0:0.9248:0.0:0.0752	13.505	0.60933	905	0.23532	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	784.98	37	chr20	17643047	.	C	T	784.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=808;ExcessHet=0.0000;FS=1.809;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.92;ReadPosRankSum=-2.968e+00;SOR=0.935	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1366	20	0	1	0
chr20	17643110	17643110	C	T	exonic	RRBP1	.	nonsynonymous SNV	RRBP1:NM_001365613:exon4:c.G1930A:p.G644S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	0.008	B	0.015	B	0.640	N	1.000	D	1.04	L	2.2	T	-0.950	T	0.032	T	0.064	0.322	5.744	-2.33	-0.233	1.021	12.424	0.043	0.0102728123574	0.0002	.	5.051e-05	0	0	0	0	6.111e-05	0	0.0001	3.88e-05	6	154602	rs138581851	2.942e-05	2.941e-05	2.451e-05	3.438e-05	0.0009	2.217e-05	1.97e-05	0.0003	0.0002	0	0	0	0	0	0.0009	1.259e-05	6.624e-05	0.0002	1.972e-05	1.97e-05	0	4.037e-05	0.0004	5.24e-06	2.45e-06	7.293e-05	3.03e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.436	0.09374	T	0.507	0.10930	T	0.008	0.14655	B	0.015	0.17295	B	0.640290	0.10605	N	0.790343	0.602758	0.81001	D	0.58	0.15352	N	2.2	0.18570	T	-0.85	0.24244	N	0.182	0.19728	-0.9499	0.40989	T	0.032	0.13592	T	10	0.048026353	0.04199	T	0.010273	0.26610	T	0.043	0.11576	.	.	0.218845423259	0.21516	0.10923442054640545	0.10852	0.482003060789	0.47171	0.28434997797	0.08106	T	0.063535	0.32202	T	-0.537162	0.00348	T	-0.71318	0.05133	T	0.0445066628990095	0.04511	T	0.860814	0.55431	D	0.031224241	0.02922	0.07312412	0.15855	0.031224241	0.02922	0.07312412	0.15855	-3.156	0.11951	T	.	.	0.067	0.02518	B	.;.;.;.;.	.;.;.;.;.	1.248155	0.16447	12.55	0.4388970269177731	0.03336	0.52994	0.29265	D	AEFBCI	0.187558	0.31485	N	-1.09995317324911	0.06645	0.3064608	-1.07308053844699	0.08232	0.4038978	0.99237260095325	0.32817	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.26	-2.33	0.06340	1.033000	0.29798	1.299000	0.25462	-0.242000	0.07441	0.828000	0.30104	0.999000	0.35428	0.325000	0.25087	0.0:0.72:0.0:0.28	12.424	0.54870	905	0.23532	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	946.98	37	chr20	17643110	.	C	T	946.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=816;ExcessHet=0.0000;FS=0.824;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.18;ReadPosRankSum=0.238;SOR=0.860	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1366	20	0	1	0
chr20	17643125	17643125	G	A	exonic	RRBP1	.	nonsynonymous SNV	RRBP1:NM_001365613:exon4:c.C1915T:p.P639S	.	.	424	1087	11	0	0	11	0.00503432	.	.	728552	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.73	T	0.01	B	0.005	B	0.228	N	0.998	D	1.59	L	0.82	T	-1.078	T	0.062	T	0.211	1.833	12.09	0.925	0.266	0.455	5.678	0.031	0.0132207433375	0.0020	0.00119808	0.0022	0.0003	0.0030	0	0.0009	0.0033	0.0023	0.0002	0.0021539	333	154602	rs143378274	0.0022	0.0022	0.0023	0.0021	0.0050	0.0021	0.0021	0.0036	0.0031	0.0004	0.0031	0.0081	0	0.0004	0.0050	0.0023	0.0028	0.0003	0.0019	0.0019	0.0020	0.0018	0.0046	0.0017	0.0017	0.0037	0.0034	0.0007	0	0.0046	0.0072	0	0.0003	0.0034	0.0023	0.0028	0.0002	0.178	0.32296	T	0.484	0.18959	T	0.01	0.15535	B	0.005	0.11217	B	0.227983	0.15985	N	0.465175	0.998373	0.44834	D	-0.2	0.04182	N	0.82	0.48142	T	-1.91	0.44471	N	0.226	0.28264	-1.0776	0.07821	T	0.062	0.25708	T	10	0.0039239526	0.00086	T	0.013221	0.32452	T	0.031	0.07369	.	.	0.358134431457	0.35428	0.07527235043713257	0.07463	0.412393024737	0.41979	0.269505441189	0.06076	T	0.101351	0.40803	T	-0.532557	0.00371	T	-0.540494	0.18248	T	0.0102390924461211	0.00139	T	0.639136	0.25234	T	0.018298633	0.00351	0.031990707	0.01867	0.018298633	0.00351	0.031990707	0.01867	-1.269	0.02045	T	.	.	0.063	0.05145	B	.;.;.;.;.	.;.;.;.;.	0.882137	0.12556	9.082	0.96773931413531733	0.31045	0.35115	0.25226	N	AEFBCI	0.357318	0.44839	N	-0.885375518008875	0.11190	0.5386663	-0.891751570331846	0.12288	0.6312676	0.987645813061569	0.31311	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.26	0.925	0.18550	0.452000	0.21508	1.302000	0.25481	0.618000	0.50648	0.039000	0.20931	0.760000	0.26617	0.165000	0.20815	0.2428:0.1542:0.6029:0.0	5.678	0.17032	905	0.23532	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	482.98	37	chr20	17643125	.	G	A	482.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.846e+00;DP=765;ExcessHet=0.0000;FS=9.620;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=1.06;SOR=2.720	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1366	20	0	1	0
chr20	17659162	17659162	C	T	exonic	RRBP1	.	nonsynonymous SNV	RRBP1:NM_001365613:exon3:c.G1346A:p.G449D,	.	.	440	1075	7	0	0	7	0.00324525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	.	.	.	.	0.003	N	1.000	N	.	.	-0.16	T	-0.859	T	0.211	T	0.52	2.782	15.26	3.78	1.293	-0.437	8.252	0.236	.	.	.	0.0069	0.0024	0.0057	0.0125	0.0109	0.0072	0	0.0064	0.0001153	3	26028	rs78244614	0.0009	0.0025	0.0006	0.0013	0.0018	0.0009	0.0009	0.0014	0.0013	0.0005	0.0015	0.0009	0.0018	0.0022	0.0017	0.0009	0.0008	0.0006	0.0007	0.0023	0.0007	0.0007	0.0013	0.0006	0.0005	0.0008	0.0007	0.0002	0	0.0013	0	0.0010	0.0011	0	0.0008	0.0023	0.0003	0.002	0.72154	D	0.073	0.43159	T	.	.	.	.	.	.	0.002516	0.36425	N	0.000000	1	0.08975	N	1.1	0.28011	L	-0.16	0.65378	T	-1.25	0.31576	N	0.556	0.58117	-0.8589	0.51341	T	0.211	0.57161	T	7	0.0057474673	0.00128	T	.	.	.	0.236	0.53931	.	.	0.558889990735	0.55549	.	.	.	.	.	.	.	0.172587	0.52114	T	-0.314382	0.07367	T	-0.280713	0.46730	T	0.0132913322339415	0.00238	T	0.727827	0.34232	T	0.080974296	0.18582	0.14442408	0.34289	0.080974296	0.18581	0.14442408	0.34288	-11.478	0.82215	D	.	.	0.514	0.65230	A	.;.	.;.	2.704687	0.35341	19.87	0.99540405673644428	0.70461	0.13086	0.17655	N	AEFBI	.	.	.	-0.407713224649445	0.25199	1.366131	-0.527968319027065	0.21395	1.157205	0.999877974346672	0.44625	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.75	3.78	0.42629	-0.722000	0.05061	0.040000	0.13855	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:0.8111:0.0:0.1889	8.252	0.30895	899	0.25060	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	506.42	162	chr20	17659162	.	C	T	506.42	.	AC=1;AF=0.063;AN=16;BaseQRankSum=2.66;DP=3334;ExcessHet=0.0000;FS=4.711;InbreedingCoeff=-0.2174;MLEAC=2;MLEAF=0.125;MQ=48.54;MQRankSum=2.14;QD=4.22;ReadPosRankSum=-4.937e+00;SOR=0.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,114,1219	7	0	1	13
chr20	17659175	17659175	C	T	exonic	RRBP1	.	nonsynonymous SNV	RRBP1:NM_001365613:exon3:c.G1333A:p.A445T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	.	.	.	.	0.459	N	1.000	N	.	.	0.97	T	-1.046	T	0.038	T	0.084	0.614	7.305	-9.49	-1.795	-7.703	7.174	0.010	0.0103497458706	.	.	0.0025	0.0012	0.0033	0.0042	0.0041	0.0020	0.0054	0.0025	0.0001153	3	26028	rs111686038	0.0005	0.0017	0.0005	0.0004	0.0010	0.0004	0.0004	0.0005	0.0004	0.0010	0.0009	0.0010	0.0005	0.0003	0	0.0004	0.0007	0.0003	0.0008	0.0030	0.0006	0.0010	0.0010	0.0007	0.0006	0.0007	0.0006	0.0010	0	0.0009	0.0006	0.0010	0.0021	0.0043	0.0005	0.0011	0.0003	0.233	0.18122	T	0.552	0.09361	T	.	.	.	.	.	.	0.458924	0.04858	N	1.439380	1	0.08975	N	1.1	0.28011	L	0.97	0.42502	T	-0.54	0.16598	N	0.04	0.01347	-1.0461	0.15505	T	0.038	0.16333	T	7	0.0046352446	0.00097	T	0.01035	0.26785	T	0.010	0.01040	.	.	0.15556083564	0.15200	.	.	.	.	.	.	.	0.039407	0.25178	T	-0.467789	0.00878	T	-0.708685	0.05363	T	0.0431740609363811	0.04269	T	0.943606	0.78679	D	0.014916366	0.00113	0.03476463	0.02602	0.014916366	0.00113	0.03476463	0.02602	-7.756	0.59396	D	.	.	0.084	0.13174	B	.;.	.;.	-0.892629	0.00938	0.036	0.70224377198824384	0.09226	0.02338	0.06684	N	AEFBI	.	.	.	-1.47714054510703	0.02012	0.08840891	-1.72579488968926	0.01028	0.04611071	0.999999997930758	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.75	-9.49	0.00495	-4.901000	0.00201	-20.000000	0.00162	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0983:0.1459:0.097:0.6588	7.174	0.24913	899	0.25060	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	118.33	131	chr20	17659175	.	C	T	118.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.685e+00;DP=2989;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0373;MLEAC=1;MLEAF=0.025;MQ=48.33;MQRankSum=-1.768e+00;QD=2.04;ReadPosRankSum=0.149;SOR=0.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,114,1219	19	0	1	1
chr20	17659511	17659511	C	G	exonic	RRBP1	.	nonsynonymous SNV	RRBP1:NM_001365613:exon3:c.G997C:p.E333Q,	.	.	439	1078	4	0	1	5	0.00185185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	.	.	.	.	.	.	1.000	N	.	.	0.61	T	-0.951	T	0.159	T	0.244	2.765	15.21	3.91	1.345	0.912	13.613	0.075	.	.	0.00459265	.	.	.	.	.	.	.	.	0.0009989	26	26028	rs559042880	0.0010	0.0009	0.0010	0.0009	0.0053	0.0009	0.0009	0.0047	0.0044	0	0	0	0.0053	0.0211	0	8.437e-05	0.0007	0.0002	0.0017	0.0018	0.0010	0.0025	0.0085	0.0015	0.0015	0.0065	0.0058	0	0	0	0	0.0085	0.0193	0	0.0002	0.0005	0.0006	0.005	0.63226	D	0.306	0.19972	T	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	1.83	0.48079	L	0.61	0.53516	T	-0.85	0.23156	N	0.191	0.21710	-0.9505	0.40885	T	0.159	0.49262	T	6	0.0044674873	0.00092	T	.	.	.	0.075	0.21907	.	.	0.553672381021	0.55024	.	.	.	.	.	.	.	0.207982	0.56778	T	-0.453251	0.01080	T	-0.416591	0.31467	T	0.0488946781543855	0.05304	T	0.856214	0.54490	D	0.07000181	0.15382	0.12053177	0.29086	0.07000181	0.15382	0.12053177	0.29085	-10.314	0.75770	D	.	.	0.338	0.56677	B	.;.	.;.	2.780315	0.36519	20.3	0.99159524870896054	0.54043	0.08127	0.14093	N	AEFBI	.	.	.	-0.523316377466055	0.21328	1.131045	-0.626285863788972	0.18819	1.006983	0.999951736645064	0.48110	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.87	3.91	0.44383	2.027000	0.40699	4.921000	0.46042	0.594000	0.32500	0.061000	0.21800	1.000000	0.68203	0.002000	0.04165	0.0:0.8423:0.1577:0.0	13.613	0.61562	898	0.25240	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1004.98	44	chr20	17659511	.	C	G	1004.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.819;DP=891;ExcessHet=0.0000;FS=0.926;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.80;MQRankSum=-1.142e+00;QD=14.36;ReadPosRankSum=-9.000e-02;SOR=0.892	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr20	17975788	17975788	A	G	exonic	MGME1	.	nonsynonymous SNV	MGME1:NM_001363738:exon3:c.A376G:p.I126V	Mitochondrial DNA depletion syndrome 11, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.003	B	0.005	B	0.011	N	1.000	N	0	N	1.01	T	-1.057	T	0.037	T	0.04	-0.388	2.180	-2.63	-0.148	-1.046	4.022	0.005	0.00764950922908	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1466690078	1.437e-05	1.437e-05	1.497e-05	1.375e-05	7.557e-05	9.23e-06	7.84e-06	2.003e-05	1.055e-05	0	0	0	7.557e-05	0	0	1.529e-05	1.656e-05	0	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.593	0.05936	T	0.43	0.15255	T	0.003	0.11197	B	0.005	0.11217	B	0.010588	0.29863	N	0.378729	1	0.20887	N	0.64	0.16041	N	1.01	0.41058	T	-0.19	0.12099	N	0.059	0.03069	-1.0567	0.12595	T	0.037	0.15943	T	10	0.03745523	0.02101	T	0.00765	0.20299	T	0.005	0.00259	0.358	0.36060	0.222439326576	0.21863	0.2734044307972881	0.27253	0.0724592716056	0.08123	0.274040579796	0.06675	T	0.091908	0.54583	T	-0.354175	0.04470	T	-0.746525	0.03623	T	0.0312517489766172	0.02186	T	0.665033	0.27384	T	0.079684995	0.18217	0.05222864	0.08564	0.079684995	0.18217	0.05222864	0.08564	-4.015	0.24027	T	0.10130178131428147	0.07572	0.068	0.04238	B	.;.	.;.	0.319446	0.06938	3.486	0.61784522800597175	0.06796	0.06149	0.12130	N	AEFBI	0.048654	0.08324	N	-1.40697241427717	0.02577	0.113978	-1.37087397813362	0.03566	0.1665911	0.999733983842303	0.42341	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.49	-2.63	0.05775	-0.975000	0.03900	-0.246000	0.10547	-0.576000	0.04747	0.000000	0.06391	0.000000	0.08366	0.777000	0.36790	0.2236:0.1114:0.4817:0.1833	4.022	0.09158	782	0.47442	PD-(D/E)XK endonuclease-like domain, AddAB-type;PD-(D/E)XK endonuclease-like domain, AddAB-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1014.98	39	chr20	17975788	.	A	G	1014.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.600e+00;DP=785;ExcessHet=0.0000;FS=0.806;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=-1.391e+00;SOR=0.866	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1029	20	0	1	0
chr20	18315315	18315315	T	C	exonic	ZNF133	.	nonsynonymous SNV	ZNF133:NM_001283005:exon2:c.T407C:p.F136S	.	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.009	B	0.006	B	0.106	N	0.981	N	1.5	L	5.66	T	-0.968	T	0.014	T	0.368	0.463	6.515	1.81	0.376	-0.106	4.255	0.032	0.0048461837933	7.7e-05	.	8.242e-05	9.649e-05	0	0	0	0.0001	0	0	7.76e-05	12	154602	rs377301648	0.0001	0.0001	0.0002	0.0001	0.0069	0.0001	0.0001	0.0052	0.0046	8.961e-05	0.0002	0.0012	0	0	0.0069	9.532e-05	0.0003	1.159e-05	8.542e-05	8.532e-05	0.0001	5.376e-05	0.0002	4.957e-05	3.963e-05	2.847e-05	1.859e-05	0	0	6.539e-05	0.0017	0	0	0	7.352e-05	0	0.0002	0.247	0.23271	T	0.223	0.25670	T	0.009	0.15093	B	0.006	0.12133	B	0.106348	0.19618	N	0.437295	0.988769	0.25036	N	0.48	0.13178	N	3.33	0.06138	T	-1.38	0.34198	N	0.153	0.19995	-0.9677	0.37673	T	0.014	0.05608	T	10	0.022485971	0.00563	T	0.004846	0.12130	T	0.032	0.07718	.	.	0.20808081866	0.20439	0.17518070971119304	0.17437	0.700449285445	0.61096	0.502140402794	0.39125	T	0.012719	0.11127	T	-0.400653	0.02293	T	-0.543987	0.17907	T	0.0107263832947095	0.00151	T	0.565243	0.23473	T	0.060092766	0.12289	0.04792041	0.07009	0.060092766	0.12288	0.04792041	0.07009	-1.211	0.01360	T	.	.	0.162	0.35808	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	1.353045	0.17607	13.26	0.93031003445250393	0.22632	0.23116	0.21971	N	AEFGBI	0.053771	0.09717	N	-0.758527278512744	0.14402	0.7171527	-0.752466815981984	0.15662	0.8248151	0.999913043978542	0.45857	0.617157	0.39670	1	0.653731	0.59785	0	0.786243	0.99158	0	0.635551	0.53088	0	.	.	4.15	1.81	0.24139	0.331000	0.19477	0.399000	0.17978	0.665000	0.62972	0.002000	0.15269	0.027000	0.21108	0.933000	0.47100	0.1782:0.1049:0.0:0.7169	4.255	0.10161	784	0.47045	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2373.98	56	chr20	18315315	.	T	C	2373.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.387e+00;DP=1251;ExcessHet=0.0000;FS=0.626;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.15;ReadPosRankSum=0.274;SOR=0.597	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1291	20	0	1	0
chr20	18414461	18414461	G	T	exonic	DZANK1	.	nonsynonymous SNV	DZANK1:NM_018152:exon11:c.C610A:p.H204N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.799	P	0.331	B	0.044	N	0.921	N	0.95	L	0.63	T	-0.916	T	0.152	T	0.136	2.653	14.83	1.21	0.238	2.030	12.514	0.052	.	.	0.00379393	0.0024	0	0	0	0	0	0.0024	0.0164	0.0017594	272	154602	rs149741633	0.0010	0.0010	0.0005	0.0015	0.0163	0.0010	0.0010	0.0156	0.0153	0	4.48e-05	0	0	0	0.0010	1.799e-05	0.0010	0.0163	0.0005	0.0005	0.0003	0.0008	0.0163	0.0004	0.0004	0.0134	0.0124	0	0	6.531e-05	0	0.0002	0	0	0	0	0.0163	0.04	0.42199	D	0.175	0.33330	T	0.027	0.19556	B	0.023	0.19966	B	0.043827	0.23700	N	0.517266	0.921283	0.27287	N	1.565	0.39561	L	-0.04	0.63240	T	-2.28	0.50830	N	0.321	0.46086	-0.9162	0.46063	T	0.152	0.48135	T	10	0.0038963854	0.00074	T	.	.	.	0.052	0.14661	0.404	0.43573	0.363751660372	0.35992	0.28379595700605925	0.28292	0.080610085718	0.09072	0.352972835302	0.18358	T	0.005197	0.24667	T	-0.469576	0.00855	T	-0.434316	0.29446	T	0.0343076124340056	0.02689	T	0.89801	0.64352	D	0.33601317	0.55960	0.22845569	0.47887	0.33601317	0.55960	0.22845569	0.47886	-8.62	0.65222	D	.	.	0.109	0.23290	B	.;.;.;.	.;.;.;.	2.822975	0.37193	20.4	0.97147675471940576	0.32573	0.88689	0.48736	D	AEFDBI	0.255532	0.37463	N	-0.173431898017422	0.34243	1.952231	-0.0890796437538329	0.35839	2.078346	0.00164215277638661	0.08740	0.653281	0.48532	0	0.624146	0.53433	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.82	1.21	0.20240	1.853000	0.38998	3.244000	0.36984	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.2672:0.0:0.7328:0.0	12.514	0.55366	665	0.61472	Double zinc ribbon;Double zinc ribbon;Double zinc ribbon;Double zinc ribbon	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1518.98	33	chr20	18414461	.	G	T	1518.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.35;DP=832;ExcessHet=0.0000;FS=0.658;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=1.11;SOR=0.779	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1113	20	0	1	0
chr20	18414509	18414509	C	T	exonic	DZANK1	.	nonsynonymous SNV	DZANK1:NM_018152:exon11:c.G562A:p.G188S	.	.	435	1063	24	0	0	24	0.0111628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.221	B	0.042	B	0.593	N	1.000	N	0.725	N	0.71	T	-1.036	T	0.084	T	0.395	2.040	12.78	-2.79	-0.296	0.247	12.607	0.100	.	0.0029	0.0163738	0.0121	0.0108	0.0031	0.0157	0.0002	0.0030	0.0188	0.0475	0.0071603	1107	154602	rs117387390	0.0040	0.0041	0.0030	0.0051	0.0397	0.0039	0.0039	0.0386	0.0381	0.0052	0.0020	0.0131	0.0170	9.461e-05	0.0102	0.0008	0.0054	0.0397	0.0051	0.0051	0.0046	0.0057	0.0461	0.0048	0.0047	0.0411	0.0392	0.0074	0.0044	0.0035	0.0147	0.0094	0	0.0102	0.0011	0.0057	0.0461	0.657	0.04742	T	0.995	0.03840	T	0.048	0.22112	B	0.007	0.12992	B	0.593465	0.11027	N	0.846150	1	0.08975	N	1.03	0.25572	L	0.03	0.62183	T	-0.52	0.16187	N	0.093	0.07262	-1.0355	0.18700	T	0.084	0.32729	T	10	0.0018946826	0.00026	T	.	.	.	0.100	0.28662	.	.	0.0716867268079	0.06686	0.32981247459072005	0.32894	0.0444781176994	0.04800	0.299264848232	0.10291	T	0.002958	0.19158	T	-0.440485	0.01285	T	-0.375516	0.36245	T	0.00886681408336766	0.00110	T	0.468753	0.13831	T	0.07891306	0.18000	0.079279974	0.17834	0.07891306	0.17999	0.079279974	0.17834	-7.373	0.56714	T	.	.	0.092	0.15115	B	.;.;.;.	.;.;.;.	1.745336	0.22204	15.52	0.77975688133924737	0.12102	0.07701	0.13704	N	AEFBI	0.077546	0.15626	N	-0.956470880121285	0.09548	0.4523762	-0.949479354296899	0.10934	0.5539916	0.00333530487472292	0.10062	0.653281	0.48532	0	0.659037	0.61890	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.94	-2.79	0.05494	0.319000	0.19270	0.529000	0.19232	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.820000	0.38637	0.0:0.4367:0.0:0.5633	12.607	0.55885	665	0.61472	Double zinc ribbon;Double zinc ribbon;Double zinc ribbon;Double zinc ribbon	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1276.98	33	chr20	18414509	.	C	T	1276.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.22;DP=788;ExcessHet=0.0000;FS=1.863;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.35;ReadPosRankSum=-1.659e+00;SOR=0.466	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1113	20	0	1	0
chr20	20017437	20017437	G	A	exonic	NAA20	.	nonsynonymous SNV	NAA20:NM_016100:exon1:c.G41A:p.R14H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	B	0.008	B	0.002	N	1.000	D	2.06	M	0.51	T	-0.886	T	0.165	T	0.353	3.879	19.71	4.29	2.214	5.030	15.718	0.100	0.699449972589	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1194110162	6.853e-07	1.368e-06	1.364e-06	0	1.162e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.50676	D	0.073	0.43159	T	0.004	0.12183	B	0.001	0.04355	B	0.002339	0.36766	N	0.233413	0.997408	0.81001	D	2.24	0.63355	M	0.5	0.55608	T	-2.86	0.62151	D	0.141	0.34659	-0.8861	0.49265	T	0.165	0.50258	T	9	0.39552882	0.55198	T	0.69945	0.97538	D	0.100	0.28662	0.469	0.54214	0.69951871678	0.69692	0.6935256555611444	0.69293	0.63298484887	0.57209	0.835363745689	0.87386	D	0.187538	0.54117	T	-0.0368187	0.46421	T	-0.290664	0.45705	T	0.817478745044665	0.47586	D	0.983635	0.94447	D	0.5021117	0.67219	0.34344915	0.60056	0.5021117	0.67220	0.34344915	0.60055	-7.105	0.54797	T	.	.	0.116	0.35992	B	.;.	.;.	4.497563	0.70319	25.5	0.9984592392225532	0.92576	0.50920	0.28775	D	AEFGBHCIJ	0.768544	0.70408	D	0.032237101026788	0.43327	2.627723	0.156499977898535	0.47486	2.978205	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.29	4.29	0.50359	4.220000	0.58364	11.604000	0.93497	0.489000	0.22316	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	15.718	0.77447	630	0.65016	GNAT domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2169.98	33	chr20	20017437	.	G	A	2169.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.810e-01;DP=915;ExcessHet=0.0000;FS=3.453;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=0.275;SOR=0.513	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1293	20	0	1	0
chr20	20047818	20047818	T	C	exonic	CRNKL1	.	nonsynonymous SNV	CRNKL1:NM_001278628:exon5:c.A569G:p.N190S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.129	B	0.041	B	0.000	D	1.000	D	2.205	M	2.99	T	-1.140	T	0.040	T	0.202	3.295	17.07	5.62	2.145	8.040	15.829	0.099	0.020320052778	.	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs769203360	6.156e-06	6.156e-06	6.806e-06	5.5e-06	1.159e-05	2.9e-06	2.1e-06	3.09e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.34621	T	0.081	0.42086	T	0.129	0.27048	B	0.041	0.23986	B	0.000002	0.62929	D	0.161948	1	0.81001	D	1.435	0.35949	L	2.99	0.09262	T	-2.68	0.57762	D	0.843	0.92200	-1.1401	0.01354	T	0.040	0.17020	T	10	0.67370474	0.70865	D	0.02032	0.42890	T	0.099	0.28413	0.429	0.47680	0.415955377315	0.41215	0.5421553398577006	0.54140	0.227101430586	0.25262	0.757947444916	0.75624	T	0.107725	0.56426	T	-0.189089	0.22391	T	-0.50939	0.21379	T	0.477486995248927	0.31805	T	0.959304	0.84657	D	0.59608364	0.72480	0.49756303	0.70947	0.59608364	0.72481	0.49756303	0.70948	-8.887	0.66966	D	.	.	0.110	0.25978	B	.;.;.	.;.;.	4.101968	0.61177	24.3	0.99233907690411483	0.56310	0.98961	0.89215	D	AEFBI	0.909890	0.86711	D	0.245071571557751	0.53396	3.508579	0.390163425024364	0.60956	4.289417	0.999994886025521	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	8.017000	0.88732	7.946000	0.75701	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.829	0.78510	783	0.47268	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1106.98	33	chr20	20047818	.	T	C	1106.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.23;DP=817;ExcessHet=0.0000;FS=7.173;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.93;ReadPosRankSum=-1.061e+00;SOR=1.322	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1151	20	0	1	0
chr20	20196636	20196636	G	A	exonic	CFAP61	.	nonsynonymous SNV	CFAP61:NM_015585:exon16:c.G1657A:p.E553K,	.	.	437	1051	34	0	0	34	0.0159176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.871	P	0.14	B	0.002	N	1.000	D	1.79	L	2.9	T	-1.029	T	0.026	T	0.599	3.470	17.76	4.86	1.393	4.513	16.716	0.137	.	0.0012	0.00279553	0.0024	0.0004	0.0012	0	0.0003	0.0014	0.0044	0.0105	0.0020892	323	154602	rs116476718	0.0015	0.0015	0.0012	0.0017	0.0107	0.0014	0.0014	0.0101	0.0099	5.974e-05	0.0009	0.0006	2.519e-05	0.0002	0.0094	0.0009	0.0019	0.0107	0.0010	0.0010	0.0010	0.0011	0.0091	0.0009	0.0009	0.0070	0.0062	7.226e-05	0.0175	0.0005	0.0009	0	0.0002	0	0.0012	0.0014	0.0091	0.22	0.18956	T	0.127	0.35082	T	0.861	0.47410	P	0.138	0.33406	B	0.002156	0.37138	N	0.256129	0.997005	0.81001	D	.	.	.	2.9	0.10101	T	-2.15	0.48687	N	0.626	0.64052	-1.0291	0.20746	T	0.026	0.11043	T	10	0.008395076	0.00190	T	.	.	.	0.137	0.36984	.	.	0.286848849266	0.28300	0.5781481004799673	0.57743	0.206687281271	0.23104	.	.	.	0.062483	0.31927	T	-0.448646	0.01150	T	-0.409263	0.32310	T	0.0240949992989467	0.01157	T	0.820918	0.48005	T	0.20001093	0.41961	0.20091796	0.44046	0.20001093	0.41961	0.20091796	0.44045	-8.572	0.64904	D	.	.	0.137	0.29941	B	.	.	4.101623	0.61165	24.3	0.99823540842108671	0.90590	0.86271	0.45519	D	AEFDBCI	0.668236	0.63608	D	0.100793035679368	0.46499	2.889373	0.14371737324171	0.46809	2.920971	0.999966064506883	0.48965	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.83	4.86	0.62624	4.617000	0.60907	7.501000	0.59489	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.913000	0.44837	0.0:0.1295:0.8705:0.0	16.716	0.85256	705	0.57330	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4665.11	36	chr20	20196636	.	G	A	4665.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.50;DP=1061;ExcessHet=0.1072;FS=0.370;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=0.856;SOR=0.733	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1406	19	0	2	0
chr20	20360405	20360405	G	A	exonic	CFAP61	.	nonsynonymous SNV	CFAP61:NM_015585:exon27:c.G3709A:p.V1237I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	0.0	B	0.002	B	0.007	N	1.000	D	-1.21	N	2.91	T	-0.950	T	0.008	T	0.041	-1.156	0.098	2.95	0.076	0.621	8.530	0.032	0.00857651575642	0.0005	0.000199681	9.93e-05	0.0007	0	0	0	7.534e-05	0	0	8.41e-05	13	154602	rs34849779	3.216e-05	3.215e-05	3.54e-05	2.889e-05	0.0009	2.478e-05	2.221e-05	0.0006	0.0005	0.0009	2.236e-05	0	0	0	0	1.349e-05	3.312e-05	0	0.0001	0.0001	0.0001	9.401e-05	0.0003	6.508e-05	5.32e-05	0.0002	0.0002	0.0003	0	6.535e-05	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	0.631	0.07173	T	0.0	0.02946	B	0.002	0.06944	B	0.006831	0.31771	N	0.144833	1	0.81001	D	.	.	.	2.91	0.10008	T	-0.04	0.07590	N	0.048	0.01999	-0.9499	0.40989	T	0.008	0.02760	T	10	0.01308164	0.00279	T	0.008577	0.22680	T	0.032	0.07718	.	.	0.0954503805726	0.09146	0.13096742646329565	0.13021	0.0903265079375	0.10186	.	.	.	0.013785	0.11858	T	-0.599671	0.00146	T	-0.793185	0.02078	T	0.019927516579628	0.00693	T	0.448855	0.12628	T	0.031977657	0.03136	0.05253709	0.08675	0.031977657	0.03136	0.05253709	0.08674	-3.757	0.20164	T	.	.	0.066	0.02228	B	.	.	1.221458	0.16152	12.35	0.75065727900612189	0.10932	0.06262	0.12253	N	AEFGBHCI	0.031019	0.03233	N	-1.07610966699765	0.07085	0.3281205	-0.849006393037227	0.13311	0.6898519	0.999894785281669	0.45129	0.59774	0.34471	0	0.600433	0.49495	0	0.596491	0.31596	0	0.691587	0.68394	0	.	.	5.24	2.95	0.33285	0.401000	0.20673	1.834000	0.29138	-0.042000	0.17409	0.994000	0.38300	1.000000	0.68203	0.784000	0.37066	0.6584:0.0:0.3416:0.0	8.530	0.32490	850	0.35610	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1398.98	34	chr20	20360405	.	G	A	1398.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.265;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=-5.720e-01;SOR=0.617	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1121	20	0	1	0
chr20	20546705	20546705	G	A	exonic	RALGAPA2	.	nonsynonymous SNV	RALGAPA2:NM_020343:exon24:c.C3284T:p.T1095M,	.	.	432	1089	1	0	0	1	0.000458926	0.0172	0.194	2389220	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.169	B	0.061	B	0.000	D	0.503	D	0.345	N	-0.24	T	-0.840	T	0.132	T	0.182	2.493	14.30	3.49	1.318	2.517	6.532	0.023	0.0206204265934	.	.	8.643e-06	0	0	0	0	0	0	7.639e-05	6.5e-06	1	154602	rs777913073	4.366e-05	4.857e-05	4.136e-05	4.598e-05	9.278e-05	3.487e-05	3.169e-05	3.911e-05	3.509e-05	9.278e-05	2.536e-05	0	0	0	0	4.972e-05	1.682e-05	3.634e-05	5.917e-05	5.912e-05	3.856e-05	8.075e-05	0.0001	3.079e-05	2.211e-05	2.847e-05	1.858e-05	4.829e-05	0	0.0001	0	0	0	0	7.351e-05	0	0	0.068	0.35726	T	0.071	0.43531	T	0.169	0.28678	B	0.06	0.26717	B	0.000360	0.45440	D	0.185581	0.503401	0.31760	D	0	0.06538	N	-0.24	0.66834	T	-0.92	0.24676	N	0.131	0.12627	-0.8401	0.52640	T	0.132	0.44347	T	10	0.08720747	0.14899	T	0.02062	0.43251	T	0.029	0.06676	0.297	0.26202	0.586602809486	0.58333	0.18344970637813449	0.18263	0.0922780189812	0.10416	0.285448908806	0.08264	T	0.027377	0.20061	T	-0.10531	0.35544	T	-0.389047	0.34663	T	0.312209188938141	0.25505	T	0.944206	0.78893	D	0.034291446	0.03819	0.0438666	0.05553	0.034291446	0.03819	0.0438666	0.05553	-6.197	0.47898	T	.	.	0.072	0.04159	B	.	.	3.242790	0.44271	21.9	0.99036309264816025	0.50917	0.72289	0.35388	D	AEFDBHCIJ	0.412306	0.48243	N	-0.17501496370525	0.34176	1.947643	0.00175576504539326	0.39797	2.365147	0.999577354447308	0.40495	0.732398	0.92422	0	0.71359	0.82159	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.6	3.49	0.39065	2.599000	0.45895	1.508000	0.27004	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0942:0.0:0.5573:0.3485	6.532	0.21527	448	0.79501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	620.98	44	chr20	20546705	.	G	A	620.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.54;DP=700;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.11;ReadPosRankSum=-7.290e-01;SOR=0.657	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	20	0	1	0
chr20	20571565	20571565	T	A	exonic	RALGAPA2	.	nonsynonymous SNV	RALGAPA2:NM_020343:exon23:c.A3049T:p.R1017W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.86	P	0.566	P	0.000	D	0.934	D	1.795	L	-0.31	T	-0.279	T	0.317	T	0.575	3.762	19.10	5.78	2.205	6.207	13.146	0.375	0.139718871522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.851e-07	6.84e-07	1.363e-06	0	9e-07	0	0	.	.	0	0	0	0	0	0	9e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.86	0.47373	P	0.438	0.45631	B	0.000244	0.46924	D	0.272597	0.933575	0.37059	D	2.085	0.57729	M	-0.31	0.68030	T	-4.67	0.79571	D	0.706	0.70966	-0.2790	0.75568	T	0.317	0.68673	T	10	0.6943779	0.72052	D	0.139719	0.82219	D	0.375	0.69358	0.476	0.55342	0.68444642936	0.68175	0.6279246888565588	0.62725	0.244522584449	0.26956	0.332974910736	0.15383	T	0.356641	0.72346	T	0.0654605	0.60291	T	-0.143747	0.59791	T	0.994698286056519	0.86141	D	0.988576	0.96102	D	0.41691366	0.61886	0.39684013	0.64315	0.41691366	0.61887	0.39684013	0.64315	-11.762	0.83672	D	.	.	0.309	0.53724	B	.	.	4.497858	0.70319	25.5	0.99887881307035076	0.96281	0.81140	0.40608	D	AEFDGBHCI	0.831111	0.74970	D	0.530046303031769	0.68875	5.277804	0.586835147091715	0.73996	6.062493	0.999987054876852	0.51787	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	6.188000	0.71968	2.908000	0.35491	-0.157000	0.11712	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.1329:0.8671	13.146	0.58882	438	0.80235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	996.98	34	chr20	20571565	.	T	A	996.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.018;DP=741;ExcessHet=0.0000;FS=0.981;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.83;ReadPosRankSum=-3.820e-01;SOR=0.843	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,984	20	0	1	0
chr20	20639859	20639859	T	C	exonic	RALGAPA2	.	nonsynonymous SNV	RALGAPA2:NM_020343:exon7:c.A592G:p.I198V,	.	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.031	N	1.000	N	-1.5	N	-0.92	T	-0.980	T	0.076	T	0.123	-1.873	0.008	-11.4	-3.849	-1.028	18.426	0.055	0.0171302650153	.	.	2.484e-05	0	0	0	0	4.496e-05	0	0	2.59e-05	4	154602	rs747898918	2.669e-05	2.668e-05	2.86e-05	2.476e-05	3.149e-05	1.998e-05	1.754e-05	2.286e-05	2.023e-05	2.988e-05	0	0	0	3.746e-05	0	3.149e-05	0	1.159e-05	3.284e-05	3.283e-05	3.853e-05	2.688e-05	5.879e-05	1.26e-05	7.98e-06	1.972e-05	1.124e-05	0	0	0	0	0	9.411e-05	0	5.879e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.030503	0.25297	N	0.475219	1	0.08975	N	-1.36	0.00644	N	-0.92	0.75108	T	0.54	0.02764	N	0.182	0.19728	-0.9798	0.35048	T	0.076	0.30492	T	10	0.023140341	0.00597	T	0.01713	0.38702	T	0.180	0.45073	0.263	0.20788	0.156986980423	0.15292	0.08304492885374068	0.08239	0.0648658095776	0.07242	0.241297498345	0.02908	T	0.015792	0.13179	T	-0.353279	0.04525	T	-0.559333	0.16438	T	0.0186873278697415	0.00581	T	0.607439	0.22904	T	0.022330174	0.00889	0.043861683	0.05553	0.022330174	0.00889	0.043861683	0.05553	-2.895	0.09094	T	.	.	0.052	0.00220	B	.	.	-2.866468	0.00013	0.001	0.10627095135271511	0.00139	0.01036	0.03877	N	AEFBI	0.026531	0.02009	N	-2.38255835304637	0.00030	0.001279371	-2.39901374283039	0.00039	0.001734428	0.999826719543757	0.43622	0.562547	0.31514	0	0.653731	0.59785	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	5.68	-11.4	0.00070	-0.984000	0.03865	-9.530000	0.00809	-2.479000	0.00271	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.3271:0.0:0.6729	18.426	0.90554	459	0.78817	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1058.98	33	chr20	20639859	.	T	C	1058.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.446;DP=785;ExcessHet=0.0000;FS=0.778;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.39;ReadPosRankSum=0.657;SOR=0.808	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1168	20	0	1	0
chr20	21348243	21348243	G	A	exonic	XRN2	.	nonsynonymous SNV	XRN2:NM_001317960:exon18:c.G1997A:p.G666D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.043	B	0.03	B	0.000	D	1.000	D	2.03	M	2.4	T	-1.110	T	0.061	T	0.436	2.455	14.17	5.4	2.679	4.984	19.522	0.074	0.00686068520987	.	.	1.649e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs762248559	1.163e-05	1.163e-05	5.446e-06	1.788e-05	0.0002	7.09e-06	5.79e-06	0.0001	9.459e-05	0	0	0	0	0	0.0002	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.35726	T	0.169	0.30534	T	0.043	0.21573	B	0.03	0.21741	B	0.000001	0.84330	D	0.094174	1	0.81001	D	1.45	0.36711	L	2.4	0.15608	T	-2.86	0.60188	D	0.259	0.29313	-1.1097	0.03096	T	0.061	0.25528	T	10	0.18567729	0.33999	T	0.006861	0.18149	T	0.074	0.21613	0.275	0.22687	0.043077524339	0.03247	0.7709108131897756	0.77040	0.403325221756	0.41274	0.77770793438	0.78582	T	0.379151	0.74197	T	-0.321581	0.06770	T	-0.407557	0.32507	T	0.164987159434447	0.18233	T	0.913709	0.69301	D	0.45230234	0.64187	0.48474336	0.70174	0.45230234	0.64187	0.48474336	0.70174	-8.435	0.63997	D	.	.	0.109	0.20780	B	.	.	2.972912	0.39627	21.0	0.98643919427789928	0.44096	0.95205	0.63827	D	AEFBI	0.583477	0.58268	D	0.163498113790668	0.49452	3.145519	0.313857982720834	0.56354	3.798555	0.952779769176838	0.28035	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.4	5.4	0.77957	5.047000	0.64042	7.650000	0.63651	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	19.522	0.95180	429	0.80881	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1185.98	38	chr20	21348243	.	G	A	1185.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.142e+00;DP=793;ExcessHet=0.0000;FS=0.765;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.10;ReadPosRankSum=0.185;SOR=0.841	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1198	20	0	1	0
chr20	21396175	21396175	-	GGC	exonic	NKX2-4	.	nonframeshift insertion	NKX2-4:NM_033176:exon2:c.800_801insGCC:p.P270_S271insP,	.	.	5	1514	2	0	1	3	0.000660066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0	0	0	0	0.0009	0.0075	0.0014	0.0002305	6	26028	rs758509573	0.0001	0.0001	0.0001	0.0002	0.0025	0.0001	0.0001	0.0014	0.0010	3.69e-05	7.714e-05	0.0009	0	0	0.0025	3.77e-05	0.0004	0.0013	9.224e-05	9.194e-05	6.445e-05	0.0001	0.0004	5.542e-05	4.376e-05	7.307e-05	3.346e-05	0	0	0.0001	0.0009	0	0	0	0.0001	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1784.94	35	chr20	21396175	.	A	AGGC	1784.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.054;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=28.33;ReadPosRankSum=-5.500e-01;SOR=0.709	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr20	21396326	21396326	G	A	exonic	NKX2-4	.	nonsynonymous SNV	NKX2-4:NM_033176:exon2:c.C650T:p.P217L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.95	P	0.988	D	0.000	U	1.000	D	1.625	L	-3.91	D	0.971	D	0.885	D	0.487	4.250	22.1	3.19	1.781	8.876	14.459	0.779	0.81902537112	.	.	1.052e-05	0	0	0	0	0	0	7.339e-05	6.5e-06	1	154602	rs755804118	1.378e-06	1.368e-06	0	2.771e-06	2.358e-05	2.3e-07	9e-08	3.91e-06	1.47e-06	0	0	0	0	0	0	0	0	2.358e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.95	0.53885	P	0.988	0.77976	D	0.000012	0.62929	U	0.000000	1	0.81001	D	0.71	0.18616	N	-3.91	0.96047	D	-9.9	0.98740	D	0.508	0.53972	0.971	0.96710	D	0.885	0.96199	D	10	0.82785296	0.81957	D	0.819025	0.98592	D	0.779	0.92623	0.476	0.55342	0.969224263665	0.96889	0.6809694742161203	0.68035	.	.	0.930470347404	0.99014	D	0.724321	0.92233	D	0.0951191	0.63761	D	0.0822465	0.75727	D	0.819455443737845	0.47732	D	0.922208	0.71716	D	0.8818358	0.89819	0.85161215	0.91612	0.8818358	0.89820	0.85161215	0.91612	-12.147	0.85560	D	.	.	0.984	0.91905	P	.	.	4.929801	0.81271	27.5	0.99888901335128821	0.96359	0.98441	0.82810	D	AEFDBHCI	0.849519	0.76634	D	0.592755631490774	0.72721	5.850572	0.526696148920176	0.69792	5.411239	0.999999999996582	0.74766	0.59774	0.34471	0	0.475579	0.06741	0	0.666236	0.60216	0	0.63947	0.58350	0	.	.	3.19	3.19	0.35720	9.274000	0.94942	11.291000	0.92027	0.497000	0.22564	1.000000	0.71638	1.000000	0.68203	0.094000	0.17991	0.0:0.0:1.0:0.0	14.459	0.67013	616	0.66398	Homeobox domain|Homeobox domain, metazoa|Homeobox domain|Homeobox domain|Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2231.98	35	chr20	21396326	.	G	A	2231.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.15;DP=912;ExcessHet=0.0000;FS=1.160;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=-2.495e+00;SOR=0.605	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr20	21397128	21397163	GCGGCCGCCGCCGCCGCAGCTGCTGCCGCCGCCGCC	-	exonic	NKX2-4	.	nonframeshift deletion	NKX2-4:NM_033176:exon1:c.237_272del:p.A80_A91del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	.	0	0	0	3.84e-05	1	26028	rs768591128	0.0002	0.0002	0.0002	0.0002	0.0023	0.0002	0.0002	0.0011	0.0008	0.0002	0	0	0	0	0.0023	0.0002	0.0003	0.0005	0.0001	0.0001	0.0001	9.565e-05	0.0004	7.682e-05	6.368e-05	7.29e-05	4.305e-05	0.0001	0	0	0	0	0	0	0.0001	0.0010	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	681.94	34	chr20	21397127	.	GGCGGCCGCCGCCGCCGCAGCTGCTGCCGCCGCCGCC	G	681.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.130e-01;DP=737;ExcessHet=0.0000;FS=2.699;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.05;ReadPosRankSum=0.462;SOR=1.179	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,961	20	0	1	0
chr20	23035511	23035511	G	T	exonic	SSTR4	.	nonsynonymous SNV	SSTR4:NM_001052:exon1:c.G28T:p.G10W,	.	.	417	1072	31	2	0	35	0.0160624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.888	P	0.186	B	0.014	U	1.000	N	0	N	-0.31	T	-0.956	T	0.109	T	0.235	1.092	9.458	0.012	-0.186	0.136	1.229	0.111	.	0.0010	0.00579073	0.0101	0.0013	0.0005	0.0003	0.0129	0.0045	0.0118	0.0364	0.0038486	595	154602	rs200128778	0.0027	0.0027	0.0020	0.0033	0.0229	0.0026	0.0026	0.0220	0.0217	0.0002	0.0006	0.0002	0.0001	0.0037	0.0116	0.0013	0.0028	0.0229	0.0018	0.0018	0.0018	0.0018	0.0181	0.0016	0.0016	0.0150	0.0139	0.0002	0	0.0003	0.0003	0	0.0037	0.0171	0.0018	0.0019	0.0181	0.009	0.57480	D	0.032	0.53426	D	0.888	0.48822	P	0.186	0.36104	B	0.014314	0.01387	U	3.839660	1	0.08975	N	0.695	0.17993	N	-0.31	0.68030	T	0.7	0.02163	N	0.396	0.43706	-0.9558	0.39952	T	0.109	0.39439	T	10	0.004093647	0.00080	T	.	.	.	0.111	0.31313	.	.	0.520963378925	0.51741	0.32484460145015054	0.32397	0.51393972005	0.49362	0.719942033291	0.70038	T	0.047282	0.27676	T	-0.486337	0.00681	T	-0.453781	0.27279	T	0.010656141811405	0.00149	T	0.416558	0.10945	T	0.04749387	0.08127	0.057956647	0.10629	0.04749387	0.08127	0.057956647	0.10628	-4.25	0.27470	T	.	.	0.145	0.31882	B	.	.	1.310436	0.17132	12.98	0.7811163771348596	0.12160	0.02511	0.07006	N	AEFDBI	0.104038	0.20828	N	-0.972582954969699	0.09193	0.4340507	-1.09379127734444	0.07822	0.3820119	0.989063552908199	0.31712	0.59774	0.34471	0	0.59043	0.45803	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.39	0.012	0.13411	-0.117000	0.10681	0.360000	0.17566	-0.261000	0.06906	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.1881:0.131:0.3713:0.3096	1.229	0.01821	862	0.33134	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	582.98	29	chr20	23035511	.	G	T	582.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=747;ExcessHet=0.0000;FS=1.547;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.66;ReadPosRankSum=-1.830e-01;SOR=0.361	GT:AD:DP:GQ:PL	0/1:15,20:35:99:597,0,344	20	0	1	0
chr20	23084532	23084532	G	A	exonic	CD93	.	nonsynonymous SNV	CD93:NM_012072:exon1:c.C1661T:p.A554V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.012	B	0.01	B	0.597	N	1.000	N	1.95	M	-1.39	T	-0.753	T	0.338	T	0.052	2.202	13.32	0.298	0.381	-0.108	1.805	0.096	0.0328306071309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.751e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.23813	T	0.013	0.63109	D	0.012	0.16265	B	0.01	0.14941	B	0.597284	0.10992	N	0.777454	1	0.08975	N	1.895	0.50365	L	-1.39	0.80387	T	-1.18	0.30140	N	0.049	0.02088	-0.7530	0.57778	T	0.338	0.70420	T	10	0.09066981	0.15815	T	0.032831	0.54547	D	0.096	0.27654	0.177	0.08379	0.978082763565	0.97784	0.3257225462102898	0.32485	0.0775942705913	0.08728	0.260270029306	0.04922	T	0.097479	0.40035	T	-0.195383	0.21471	T	-0.518431	0.20453	T	0.0644852533231434	0.07854	T	0.507849	0.16117	T	0.047988474	0.08294	0.05299423	0.08840	0.047988474	0.08294	0.05299423	0.08839	-4.282	0.27924	T	.	.	0.085	0.10159	B	.	.	0.326554	0.07010	3.565	0.97831960949540619	0.36266	0.07563	0.13575	N	AEFDBCI	0.099917	0.20102	N	-0.789851472135318	0.13574	0.6696703	-0.848112340886295	0.13332	0.6910847	0.999941565198824	0.47345	0.542737	0.22433	0	0.588066	0.40923	0	0.547309	0.15389	0	0.638787	0.57140	0	.	.	5.88	0.298	0.15015	-0.062000	0.11631	0.401000	0.18000	0.671000	0.69459	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2785:0.246:0.3609:0.1146	1.805	0.02892	883	0.28872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1953.98	46	chr20	23084532	.	G	A	1953.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.695;DP=1302;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.47;ReadPosRankSum=-2.270e-01;SOR=0.709	GT:AD:DP:GQ:PL	0/0:66,0:66:99:0,120,1800	20	0	1	0
chr20	23369653	23369653	G	A	exonic	GZF1	.	nonsynonymous SNV	GZF1:NM_001317019:exon4:c.G1697A:p.R566H	.	.	434	1080	8	0	0	8	0.00369004	.	.	1395908	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.51	T	0.001	B	0.002	B	0.007	N	0.814	D	0.79	N	3.17	T	-1.041	T	0.038	T	0.148	1.178	9.792	3.74	0.545	6.157	8.000	0.094	0.00607654343027	0.0010	0.000998403	0.0005	9.69e-05	0.0003	0	0	0.0008	0	0.0004	0.0005563	86	154602	rs144872945	0.0006	0.0006	0.0005	0.0006	0.0076	0.0005	0.0005	0.0058	0.0052	0.0004	0.0007	0	2.52e-05	3.746e-05	0.0076	0.0006	0.0008	0.0005	0.0006	0.0006	0.0006	0.0005	0.0010	0.0005	0.0004	0.0008	0.0007	4.849e-05	0	0.0007	0	0	0.0002	0.0068	0.0010	0.0019	0	0.999	0.01930	T	0.704	0.05642	T	0.001	0.07471	B	0.002	0.06944	B	0.006644	0.31890	N	0.205916	0.814363	0.34685	D	0.74	0.18910	N	1.19	0.37578	T	-0.15	0.09297	N	0.227	0.27197	-1.0413	0.16921	T	0.038	0.16333	T	10	0.013266832	0.00282	T	0.006077	0.15905	T	0.094	0.27141	.	.	0.338834610459	0.33488	0.23062798974322338	0.22977	0.680023828954	0.59963	0.402942657471	0.25478	T	0.022028	0.17054	T	-0.490768	0.00643	T	-0.536922	0.18600	T	0.029702912799275	0.01944	T	0.890911	0.62511	D	0.041094102	0.05987	0.03606457	0.02980	0.041094102	0.05987	0.03606457	0.02980	-0.997	0.00996	T	.	.	0.137	0.30997	B	.;.	.;.	2.625359	0.34124	19.54	0.87274921739882894	0.17111	0.57849	0.30485	D	AEFDBHCI	0.063681	0.12322	N	-0.224533908504667	0.32128	1.808704	-0.028261482945439	0.38443	2.265046	0.999999923655725	0.74766	0.562547	0.31514	0	0.577304	0.33150	0	0.465395	0.07113	1	0.635551	0.53088	0	.	.	5.95	3.74	0.42108	6.081000	0.70951	6.166000	0.54416	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.8298:0.0:0.1702:0.0	8.000	0.29449	614	0.66605	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1517.98	44	chr20	23369653	.	G	A	1517.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.53;DP=852;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.05;ReadPosRankSum=-1.290e-01;SOR=0.741	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1206	20	0	1	0
chr20	23452712	23452712	C	T	exonic	CST11	.	nonsynonymous SNV	CST11:NM_080830:exon1:c.G100A:p.V34I	.	.	429	1090	3	0	0	3	0.00137426	.	.	2340002	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.29	T	0.781	P	0.13	B	0.386	N	1.000	N	0.955	L	2.84	T	-1.008	T	0.020	T	0.072	0.664	7.556	-3.59	-0.680	-0.975	9.393	0.028	0.00153388877116	0.0002	0.000199681	0.0002	0	0.0003	0.0001	0	0.0002	0.0011	6.056e-05	0.0001488	23	154602	rs144406731	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	9.834e-05	0.0001	7.816e-05	8.961e-05	0.0002	0.0033	5.038e-05	0	0.0002	3.957e-05	0.0003	0.0001	0.0001	0.0001	0.0002	0.0001	0.0002	9.144e-05	7.7e-05	5.842e-05	4.239e-05	7.221e-05	0	6.535e-05	0.0014	0	0	0	0.0001	0.0014	0.0002	0.269	0.19157	T	0.449	0.23365	T	0.781	0.44300	P	0.13	0.32896	B	0.386484	0.13315	N	0.721650	1	0.08975	N	0.355	0.11969	N	2.84	0.17596	T	0.07	0.12099	N	0.087	0.09914	-1.0080	0.27541	T	0.020	0.08500	T	10	0.008605152	0.00195	T	0.001534	0.02394	T	0.028	0.06331	.	.	0.0666544352282	0.05500	0.08748732686125928	0.08681	0.012624245784	0.01203	0.336328446865	0.15888	T	0.021593	0.16786	T	-0.563781	0.00241	T	-0.778309	0.02505	T	0.0296013001352549	0.01929	T	0.534247	0.17838	T	0.021787517	0.00800	0.032611657	0.02023	0.021787517	0.00800	0.032611657	0.02023	-2.711	0.07396	T	.	.	0.076	0.08320	B	.;.	.;.	0.166481	0.05563	2.019	0.68835597570473328	0.08782	0.00955	0.03671	N	AEFDBI	0.024002	0.01418	N	-1.26886007958711	0.04056	0.1823542	-1.42245364000839	0.03028	0.1404988	0.0225205914545902	0.13437	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.542086	0.14980	0	.	.	3.86	-3.59	0.04290	-0.968000	0.03928	-1.006000	0.06630	-1.945000	0.00488	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4034:0.0:0.5966	9.393	0.37550	840	0.37365	Cystatin domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2124.98	33	chr20	23452712	.	C	T	2124.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.82;DP=892;ExcessHet=0.0000;FS=4.265;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=0.020;SOR=0.883	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr20	23493054	23493054	A	G	exonic	CST8	.	nonsynonymous SNV	CST8:NM_001281730:exon3:c.A328G:p.N110D	.	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.01	B	0.025	B	0.738	N	1.000	N	0.62	N	2.63	T	-0.924	T	0.020	T	0.051	-1.547	0.015	0.972	0.131	0.709	6.210	0.019	0.00200584022535	0.0002	0.000798722	0.0006	0	0.0002	0	0.0002	0.0006	0	0.0021	0.0005304	82	154602	rs200703356	0.0004	0.0004	0.0003	0.0005	0.0030	0.0004	0.0003	0.0019	0.0018	0	0.0002	0.0010	0	9.387e-05	0.0030	0.0002	0.0007	0.0022	0.0002	0.0002	0.0001	0.0003	0.0025	0.0002	0.0001	0.0014	0.0011	0	0	6.541e-05	0	0	0	0.0102	0.0002	0.0005	0.0025	0.912	0.02442	T	0.712	0.05622	T	0.01	0.15535	B	0.025	0.20508	B	0.738246	0.09798	N	0.875959	1	0.08975	N	0.635	0.15989	N	2.63	0.14038	T	-0.27	0.13226	N	0.172	0.18376	-0.9242	0.44971	T	0.020	0.08313	T	10	0.005273968	0.00115	T	0.002006	0.03615	T	0.019	0.03383	.	.	0.124217242631	0.12060	0.12202034405938092	0.12129	0.00144250031491	0.00121	0.495035260916	0.38137	T	0.039595	0.25243	T	-0.706336	0.00033	T	-0.793855	0.02060	T	0.0121895960997703	0.00196	T	0.307569	0.05925	T	0.065364726	0.13961	0.05466826	0.09447	0.065364726	0.13960	0.05466826	0.09447	-2.849	0.08643	T	.	.	0.090	0.15788	B	.;.	.;.	1.317747	0.17215	13.03	0.24084020744119419	0.01048	0.04365	0.09937	N	AEFBHCI	0.036195	0.04783	N	-1.23948757390638	0.04439	0.2003709	-1.24361823320199	0.05227	0.2485129	8.7921585068858E-5	0.04703	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.4	0.972	0.18824	1.117000	0.30848	1.928000	0.29753	-0.057000	0.16691	0.030000	0.20431	0.006000	0.19429	0.002000	0.04165	0.6945:0.0:0.3055:0.0	6.210	0.19839	867	0.32089	Cystatin domain|Cystatin domain|Cystatin domain;Cystatin domain|Cystatin domain|Cystatin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1031.98	40	chr20	23493054	.	A	G	1031.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.159e+00;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=-4.600e-01;SOR=0.764	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1377	20	0	1	0
chr20	24665358	24665358	G	A	exonic	SYNDIG1	.	nonsynonymous SNV	SYNDIG1:NM_001323607:exon4:c.G631A:p.V211M	.	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.98	D	0.488	P	0.000	N	1.000	D	0.695	N	-2.04	D	-0.225	T	0.426	T	0.241	4.035	20.7	4.8	1.426	5.504	12.486	0.328	0.0180987060835	.	.	3.315e-05	0	0	0	0	6.021e-05	0	0	2.59e-05	4	154602	rs758967104	1.382e-05	1.71e-05	8.243e-06	1.945e-05	0.0002	9.02e-06	7.33e-06	8.55e-06	6.92e-06	0	4.955e-05	0	0	0	0.0002	1.445e-05	0	1.193e-05	6.567e-06	6.562e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.044	0.41096	D	0.079	0.42086	T	0.98	0.59353	D	0.488	0.47288	P	0.000051	0.53742	N	0.073914	1	0.81001	D	1.04	0.26193	L	-2.04	0.85703	D	-0.69	0.19720	N	0.242	0.27316	-0.2254	0.77008	T	0.426	0.76969	T	10	0.3614087	0.52762	T	0.018099	0.40048	T	0.328	0.65026	0.216	0.13643	0.73344012459	0.73106	0.7274255494498155	0.72686	0.321949162257	0.34392	0.777216732502	0.78508	T	0.400698	0.75820	T	-0.0875761	0.38477	T	-0.227662	0.51997	T	0.400322616100311	0.28954	T	0.893711	0.63166	D	0.0972594	0.22923	0.11084076	0.26729	0.0972594	0.22922	0.11084076	0.26729	-7.809	0.59761	D	.	.	0.184	0.39898	B	.	.	4.772115	0.77261	26.7	0.99792184170438114	0.87750	0.95969	0.66943	D	AEFDBI	0.655333	0.62771	D	0.313678059827412	0.56849	3.850495	0.38650041167873	0.60731	4.26415	0.804237456757337	0.24240	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.75	4.8	0.61157	5.613000	0.67369	7.259000	0.57954	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0809:0.0:0.9191:0.0	12.486	0.55212	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2038.98	37	chr20	24665358	.	G	A	2038.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=898;ExcessHet=0.0000;FS=0.605;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=-5.100e-01;SOR=0.621	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr20	25057849	25057849	G	T	exonic	ACSS1	.	nonsynonymous SNV	ACSS1:NM_001252675:exon1:c.C254A:p.T85N	.	.	425	1084	13	0	0	13	0.00596057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.977	D	0.801	P	0.060	N	1.000	D	1.725	L	1.91	T	-0.832	T	0.163	T	0.136	3.100	16.35	3.56	1.989	0.849	10.809	0.046	0.291523353281	0.0015	0.000798722	0.0008	0.0024	0.0002	0	0	0.0007	0	0.0016	0.0006662	103	154602	rs141052908	0.0007	0.0007	0.0007	0.0008	0.0036	0.0007	0.0007	0.0024	0.0020	0.0024	0.0003	3.829e-05	0	3.791e-05	0.0036	0.0007	0.0010	0.0017	0.0013	0.0013	0.0012	0.0014	0.0032	0.0011	0.0011	0.0027	0.0026	0.0032	0	0.0003	0	0	0	0	0.0007	0	0.0021	0.019	0.51853	D	0.017	0.60337	D	0.267	0.31683	B	0.167	0.35118	B	0.060291	0.22259	N	0.425400	0.692654	0.30177	N	2.21	0.62235	M	0.95	0.43279	T	-0.72	0.30140	N	0.311	0.35301	-0.8324	0.53146	T	0.163	0.49914	T	10	0.0134807825	0.00286	T	0.291523	0.90580	D	0.046	0.12618	.	.	0.501685917333	0.49804	0.19554588008794624	0.19471	0.659343310634	0.58801	0.784863948822	0.79663	T	0.16727	0.51383	T	-0.565168	0.00236	T	-0.584608	0.14135	T	0.0126323565037961	0.00211	T	0.843516	0.53298	T	0.11745432	0.27690	0.110436045	0.26629	0.11745432	0.27690	0.110436045	0.26629	-8.856	0.66765	D	.	.	0.123	0.35581	B	.;.;.	.;.;.	2.328489	0.29829	18.25	0.99345844253411786	0.60371	0.30161	0.24011	N	ALL	0.086328	0.17504	N	0.00947331740424828	0.42285	2.54492	0.0267996725078128	0.40962	2.453197	0.999999989773191	0.74766	0.56387	0.32371	0	0.52208	0.09955	0	0.503968	0.08637	0	0.618803	0.45993	0	.	.	3.56	3.56	0.39892	0.509000	0.22414	3.427000	0.38290	-0.324000	0.05829	0.147000	0.23610	1.000000	0.68203	0.963000	0.52385	0.0:0.0:1.0:0.0	10.809	0.45738	793	0.45818	.;Acetyl-coenzyme A synthetase, N-terminal domain;Acetyl-coenzyme A synthetase, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1093.98	33	chr20	25057849	.	G	T	1093.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.14;DP=849;ExcessHet=0.0000;FS=0.824;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=0.180;SOR=0.848	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr20	25077762	25077762	T	C	exonic	VSX1	.	nonsynonymous SNV	VSX1:NM_001378633:exon1:c.A38G:p.H13R	Keratoconus 1, Autosomal dominant	.	0	1515	7	0	0	7	0.00230491	.	.	350779	not_provided|Keratoconus_1|Polymorphous_corneal_dystrophy|VSX1-related_disorder	MedGen:C3661900|MONDO:MONDO:0007851,MedGen:C1835677,OMIM:148300|Human_Phenotype_Ontology:HP:0007915,MONDO:MONDO:0020364,MedGen:C0339284,OMIM:PS122000,Orphanet:98973|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	1.905	M	-3.01	D	0.751	D	0.816	D	0.549	4.891	28.1	5.21	1.949	7.391	13.912	0.775	0.228247731186	0.0022	0.000998403	0.0034	0.0016	0.0032	0	0	0.0032	0.0058	0.0042	0.0013777	213	154602	rs148957473	0.0043	0.0041	0.0043	0.0043	0.0050	0.0042	0.0042	0.0049	0.0048	0.0007	0.0020	7.946e-05	0	0.0008	0.0009	0.0050	0.0041	0.0032	0.0031	0.0031	0.0032	0.0029	0.0045	0.0028	0.0028	0.0041	0.0039	0.0012	0.0340	0.0037	0	0	0.0007	0	0.0045	0.0033	0.0023	0.008	0.59928	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.22	0.62911	M	-3.03	0.93532	D	-7.62	0.95394	D	0.854	0.93252	0.751	0.93803	D	0.816	0.93787	D	10	0.056372613	0.06307	T	0.228248	0.88129	D	0.775	0.92460	.	.	0.965949232786	0.96558	0.8838724055267788	0.88355	0.579389971153	0.53813	0.866244971752	0.92026	D	0.505028	0.82385	D	-0.132166	0.31148	T	0.0425029	0.73091	D	0.0501222325084368	0.05522	T	0.985901	0.95630	D	0.78069913	0.82696	0.7890036	0.87584	0.8058733	0.84285	0.76328677	0.86016	-8.729	0.72863	D	0.9186206475191496	0.96407	0.956	0.87566	P	.;.	.;.	4.993035	0.82791	27.9	0.99792008311563019	0.87750	0.89913	0.50694	D	AEFDBHCIJ	0.913623	0.87586	D	0.725993689681819	0.81337	7.498446	0.70423015970783	0.82698	7.832426	1.0	0.98316	0.59774	0.34471	0	0.491552	0.07993	0	0.378051	0.06126	2	0.63947	0.58350	0	.	.	5.21	5.21	0.72005	7.375000	0.78897	7.361000	0.58346	0.645000	0.52629	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	13.912	0.63380	808	0.43318	.;CVC domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	588.98	34	chr20	25077762	.	T	C	588.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.12;DP=761;ExcessHet=0.0000;FS=4.112;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.80;ReadPosRankSum=-4.180e-01;SOR=1.329	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1096	20	0	1	0
chr20	25079460	25079460	C	A	exonic	VSX1	.	nonsynonymous SNV	VSX1:NM_001256271:exon2:c.G479T:p.G160V	Keratoconus 1, Autosomal dominant	.	0	1520	1	0	1	2	0.000328839	.	.	344823	not_provided|Polymorphous_corneal_dystrophy	MedGen:C3661900|Human_Phenotype_Ontology:HP:0007915,MONDO:MONDO:0020364,MedGen:C0339284,OMIM:PS122000,Orphanet:98973	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.31	T	0.529	P	0.164	B	0.179	N	1.000	D	1.1	L	-3.74	D	-0.018	T	0.523	D	0.461	1.600	11.31	3.66	2.435	1.693	6.940	0.432	.	.	0.00259585	0.0014	0.0001	0.0002	0.0152	0	6.842e-05	0.0013	0.0006	0.0010737	166	154602	rs74315433	0.0006	0.0006	0.0006	0.0006	0.0193	0.0006	0.0006	0.0182	0.0178	0	0.0002	0	0.0193	0	0	2.249e-05	0.0006	0.0005	0.0005	0.0005	0.0004	0.0006	0.0147	0.0004	0.0004	0.0120	0.0110	0	0	0.0002	0	0.0147	0	0	2.94e-05	0	0	0.123	0.32141	T	0.198	0.28860	T	0.529	0.37682	P	0.117	0.34953	B	0.179173	0.17151	N	0.632088	0.999313	0.46639	D	2.175	0.60977	M	-3.74	0.95493	D	-2.55	0.66085	D	0.354	0.45992	-0.0178	0.81884	T	0.523	0.82197	D	10	0.009346396	0.00211	T	.	.	.	0.432	0.73807	.	.	0.923647824411	0.92287	0.1898148162174202	0.18899	0.136192186029	0.15359	0.481154680252	0.36216	T	0.145083	0.48204	T	-0.193708	0.21715	T	-0.0393483	0.67746	D	0.0175982084956517	0.00493	T	0.373163	0.17787	T	0.1878623	0.40260	0.23608072	0.48869	0.20403606	0.42500	0.21583614	0.46187	-8.785	0.66869	D	0.6085046700971293	0.67593	0.141	0.35829	B	.;.;.;.	.;.;.;.	2.110495	0.26858	17.26	0.9744118239460493	0.33977	0.51151	0.28829	D	AEFDBI	0.113648	0.22415	N	-0.152816130500135	0.35115	2.012894	-0.0398514073449713	0.37932	2.227791	0.999776921806668	0.42865	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	4.68	3.66	0.41111	1.391000	0.34083	2.795000	0.34819	0.599000	0.40250	0.884000	0.31069	0.994000	0.32194	0.505000	0.29129	0.253:0.5942:0.1528:0.0	6.940	0.23668	808	0.43318	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	4148.08	34	chr20	25079460	.	C	A	4148.08	.	AC=2;AF=0.048;AN=42;DP=836;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.19;SOR=0.941	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1096	20	1	0	0
chr20	25218599	25218599	G	A	exonic	ENTPD6	.	nonsynonymous SNV	ENTPD6:NM_001322381:exon7:c.G274A:p.V92M	.	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.875	P	0.219	B	0.469	N	1.000	N	1.385	L	2.6	T	-1.075	T	0.045	T	0.374	1.769	11.88	2.15	0.572	-0.072	9.575	0.028	0.00616612820908	0.0007	0.000399361	0.0007	0.0001	0.0005	0.0003	0	0.0008	0	0.0015	0.0005045	78	154602	rs141271331	0.0008	0.0008	0.0008	0.0008	0.0016	0.0008	0.0007	0.0008	0.0008	0.0001	0.0006	0.0011	5.054e-05	5.958e-05	0.0016	0.0009	0.0008	0.0009	0.0006	0.0006	0.0006	0.0006	0.0019	0.0005	0.0005	0.0014	0.0012	0.0001	0	0.0019	0.0003	0.0002	0	0.0034	0.0008	0.0005	0.0002	0.098	0.31682	T	0.116	0.37589	T	0.217	0.48103	B	0.064	0.37734	B	0.469087	0.12300	N	0.782002	1	0.08975	N	1.44	0.36004	L	2.6	0.27032	T	-0.54	0.24026	N	0.174	0.21710	-1.0753	0.08287	T	0.045	0.19316	T	10	0.015736312	0.00330	T	0.006166	0.16141	T	0.107	0.30369	.	.	0.389126455913	0.38528	0.47633907680031556	0.47553	0.354245454243	0.37202	0.267517566681	0.05820	T	0.008074	0.08094	T	-0.449036	0.01144	T	-0.474133	0.25072	T	0.00598404997952065	0.00066	T	0.851615	0.56163	D	0.08353213	0.19294	0.09891857	0.23600	0.08353213	0.19294	0.09891857	0.23600	-4.614	0.32347	T	.	.	0.073	0.16451	B	.;.;.;.;.;.	.;.;.;.;.;.	1.806350	0.22960	15.83	0.9739959842327971	0.33765	0.08379	0.14316	N	AEFDBI	0.090066	0.18254	N	-0.407857217380608	0.25194	1.36582	-0.428093727219566	0.24177	1.322482	0.980003188777009	0.30087	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.28	2.15	0.26590	0.107000	0.15212	0.193000	0.15765	0.676000	0.76740	0.002000	0.15269	0.001000	0.17328	0.994000	0.71098	0.2446:0.0:0.7554:0.0	9.575	0.38615	662	0.61715	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	814.98	39	chr20	25218599	.	G	A	814.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.241;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=0.761;SOR=0.696	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr20	25248200	25248200	A	T	exonic	PYGB	.	nonsynonymous SNV	PYGB:NM_002862:exon1:c.A22T:p.S8C,	.	.	1	1518	3	0	0	3	0.000987167	.	.	2300420	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.0	B	0.0	B	0.149	N	0.946	D	0.69	N	-3.31	D	-0.404	T	0.540	D	0.248	3.130	16.46	-0.184	0.162	-0.251	3.285	0.244	0.551122571813	.	0.000199681	0.0001	0	0.0003	0	0	0.0001	0.0013	6.618e-05	9.06e-05	14	154602	rs201023289	0.0001	0.0001	0.0001	0.0001	0.0028	9.618e-05	9.091e-05	0.0018	0.0014	0.0007	0.0005	0.0001	0	0	0.0028	6.628e-05	0.0003	4.78e-05	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0004	0.0003	0.0001	0	0.0007	0	0	0	0.0103	0.0001	0	0	0.063	0.36709	T	0.051	0.47828	T	0.0	0.02946	B	0.0	0.01387	B	0.149102	0.18027	N	0.601266	0.946238	0.37519	D	1.61	0.41143	L	-3.31	0.93835	D	-1.86	0.43524	N	0.283	0.32037	-0.4041	0.71898	T	0.540	0.83032	D	10	0.06482783	0.08655	T	0.551123	0.95862	D	0.244	0.55061	.	.	0.834765449321	0.83318	0.37172347498393815	0.37086	0.196433815475	0.22005	0.644083797932	0.59145	T	0.388059	0.74883	T	-0.224169	0.17427	T	-0.221388	0.52604	T	0.0309131424874067	0.02132	T	0.774523	0.40643	T	0.08685047	0.20202	0.08096218	0.18359	0.08685047	0.20202	0.08096218	0.18359	-6.933	0.53543	T	.	.	0.105	0.19154	B	.	.	3.364988	0.46475	22.3	0.95842600792264432	0.27968	0.28972	0.23698	N	ALL	0.114221	0.22507	N	-0.716997461434932	0.15544	0.7842785	-0.665033115379382	0.17838	0.9502537	0.999999999999999	0.74766	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.273489	0.05413	2	.	.	3.86	-0.184	0.12628	-0.172000	0.09858	1.520000	0.27085	0.732000	0.85762	0.000000	0.06391	0.994000	0.32194	0.996000	0.76049	0.3625:0.0:0.1249:0.5126	3.285	0.06520	619	0.66147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1289.98	39	chr20	25248200	.	A	T	1289.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=777;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.00;ReadPosRankSum=-3.170e-01;SOR=0.631	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,101,1247	20	0	1	0
chr20	25280970	25280970	G	A	exonic	PYGB	.	nonsynonymous SNV	PYGB:NM_002862:exon11:c.G1261A:p.G421S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.538	P	0.211	B	0.000	D	1.000	D	2.49	M	-3.29	D	0.750	D	0.780	D	0.677	2.611	14.69	4.02	2.231	6.393	16.293	0.612	0.216915789028	0.0007	0.000599042	0.0002	0.0021	0	0.0003	0	6.007e-05	0	6.075e-05	0.0002199	34	154602	rs141916716	7.868e-05	7.867e-05	8.577e-05	7.151e-05	0.0020	6.667e-05	6.202e-05	0.0016	0.0015	0.0020	0.0001	0	2.519e-05	0	0	3.058e-05	8.281e-05	4.638e-05	0.0005	0.0005	0.0005	0.0005	0.0018	0.0004	0.0004	0.0015	0.0014	0.0018	0	0.0002	0	0	0	0	1.47e-05	0	0	0.06	0.37326	T	0.062	0.45318	T	0.538	0.37867	P	0.211	0.37346	B	0.000002	0.62929	D	0.099894	1	0.81001	D	2.985	0.85602	M	-3.29	0.93740	D	-3.33	0.66206	D	0.799	0.79503	0.750	0.93788	D	0.780	0.92544	D	10	0.19913879	0.35911	T	0.216916	0.87583	D	0.612	0.84826	.	.	0.926504770512	0.92576	0.7118951827076129	0.71131	0.492454931877	0.47890	0.611383318901	0.54512	T	0.690298	0.90989	D	-0.0255467	0.48059	T	0.186224	0.82353	D	0.162595496838383	0.18061	T	0.888511	0.61827	D	0.6908652	0.77558	0.54225075	0.73543	0.6908652	0.77560	0.54225075	0.73544	-8.199	0.62419	D	0.25056406493886435	0.33912	0.155	0.34250	B	.	.	3.924502	0.57317	23.8	0.99529824922543442	0.69777	0.94448	0.61199	D	AEFDBCI	0.749245	0.69074	D	0.199768075889534	0.51187	3.302109	0.186395351128877	0.49101	3.117429	0.999999988166349	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.02	4.02	0.45968	7.977000	0.87680	5.156000	0.47774	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.198000	0.21837	0.0:0.0:1.0:0.0	16.293	0.82588	602	0.67834	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1081.98	34	chr20	25280970	.	G	A	1081.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=818;ExcessHet=0.0000;FS=2.872;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=1.14;SOR=0.446	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,101,1286	20	0	1	0
chr20	25476844	25476844	C	T	exonic	NINL	.	nonsynonymous SNV	NINL:NM_025176:exon17:c.G2447A:p.R816Q,	.	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.01	B	0.0	B	0.808	N	1.000	N	-0.255	N	1.93	T	-0.973	T	0.023	T	0.055	-0.604	1.303	2.52	0.497	0.512	4.907	0.060	0.00365544544835	.	.	8.459e-06	0	0	0	0	1.543e-05	0	0	6.5e-06	1	154602	rs766636534	4.107e-06	4.104e-06	1.362e-06	6.879e-06	2.237e-05	1.48e-06	9.7e-07	8.4e-07	5.7e-07	0	2.237e-05	0	0	0	0	3.597e-06	1.656e-05	0	6.57e-06	6.567e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	0.505	0.11004	T	0.01	0.15535	B	0.0	0.01387	B	0.807711	0.09275	N	0.909482	1	0.19694	N	-0.55	0.02420	N	1.93	0.22881	T	1.15	0.01151	N	0.099	0.08088	-0.9734	0.36474	T	0.023	0.09604	T	10	0.036993653	0.02027	T	0.003655	0.08402	T	0.060	0.17295	0.083	0.00760	0.143124449307	0.13826	0.22084762204393385	0.21999	0.121433819043	0.13684	0.229972869158	0.01966	T	0.002138	0.01537	T	-0.344261	0.05098	T	-0.732283	0.04225	T	0.0237685675594289	0.01117	T	0.536546	0.18022	T	0.022816665	0.00972	0.030247537	0.01457	0.022816665	0.00972	0.030247537	0.01457	-3.427	0.15422	T	.	.	0.079	0.07318	B	.	.	0.515038	0.08836	5.617	0.37512949579609467	0.02476	0.00078	0.00535	N	AEFBI	0.015563	0.00303	N	-1.38915590579259	0.02739	0.1213768	-1.34312021174421	0.03888	0.1822667	0.00684088715545753	0.11320	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.61	2.52	0.29514	1.159000	0.31360	1.287000	0.25388	-0.281000	0.06419	0.003000	0.16062	0.945000	0.28875	0.008000	0.08271	0.0:0.1489:0.0:0.8511	4.907	0.13160	575	0.70088	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1565.98	37	chr20	25476844	.	C	T	1565.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=895;ExcessHet=0.0000;FS=1.641;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.66;ReadPosRankSum=-5.380e-01;SOR=0.520	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,111,1665	20	0	1	0
chr20	25504999	25504999	G	C	exonic	NINL	.	nonsynonymous SNV	NINL:NM_001318226:exon6:c.C597G:p.S199R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.949	P	0.498	P	0.524	N	0.668	N	0.55	N	1.99	T	-1.044	T	0.036	T	0.148	1.432	10.73	2.17	0.340	0.419	5.744	0.033	0.00304033216398	.	.	.	.	.	.	.	.	.	.	.	.	.	rs964929847	1.368e-05	1.368e-05	1.225e-05	1.513e-05	1.709e-05	8.94e-06	7.27e-06	1.093e-05	8.81e-06	0	0	0	0	0	0	1.709e-05	1.657e-05	0	3.286e-05	3.284e-05	3.855e-05	2.691e-05	7.351e-05	1.261e-05	7.98e-06	2.847e-05	1.858e-05	0	0	0	0	0	0	0	7.351e-05	0	0	0.24	0.36310	T	0.096	0.39340	T	0.03	0.53761	B	0.014	0.47596	B	0.524465	0.11705	N	0.813760	0.667988	0.30390	N	1.5	0.37844	L	1.99	0.21666	T	-1.94	0.45042	N	0.266	0.30118	-1.0436	0.16236	T	0.036	0.15596	T	10	0.07772449	0.12301	T	0.00304	0.06547	T	0.033	0.08068	0.186	0.09517	0.234412748748	0.23057	0.23149151623027958	0.23064	0.118513868032	0.13345	0.301024526358	0.10553	T	0.006545	0.05971	T	-0.233618	0.16174	T	-0.573352	0.15143	T	0.145293414592743	0.16722	T	0.575442	0.20674	T	0.060919095	0.12557	0.08966569	0.20981	0.060919095	0.12557	0.08966569	0.20980	-8.976	0.69588	D	.	.	0.224	0.45556	B	.;.	.;.	1.847871	0.23478	16.03	0.98960869174366106	0.49324	0.60508	0.31215	D	AEFBI	0.112420	0.22221	N	-0.475466520628232	0.22886	1.225205	-0.487504445210733	0.22497	1.222202	0.00469481621268306	0.10676	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.18	2.17	0.26736	0.330000	0.19460	3.541000	0.39004	0.670000	0.69193	0.854000	0.30511	1.000000	0.68203	0.159000	0.20615	0.2387:0.1441:0.6172:0.0	5.744	0.17378	587	0.69154	EF-hand domain|EF-hand domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1332.98	35	chr20	25504999	.	G	C	1332.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.960;DP=790;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.26;ReadPosRankSum=-3.910e-01;SOR=0.700	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr20	25675213	25675213	C	T	exonic	ZNF337	.	nonsynonymous SNV	ZNF337:NM_001290261:exon4:c.G2075A:p.R692Q	.	.	427	1083	12	0	0	12	0.00550964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.231	B	0.012	B	.	.	1.000	N	1.025	L	2.18	T	-1.012	T	0.030	T	0.166	3.693	18.76	0.977	0.833	3.853	3.301	0.113	0.0117906480904	0.0029	0.000599042	0.0023	0.0003	0.0015	0	0.0021	0.0034	0.0011	0.0007	0.0023221	359	154602	rs146305250	0.0030	0.0030	0.0030	0.0030	0.0073	0.0029	0.0029	0.0055	0.0049	0.0005	0.0019	0.0024	0	0.0029	0.0073	0.0035	0.0024	0.0006	0.0025	0.0025	0.0024	0.0026	0.0054	0.0023	0.0022	0.0045	0.0041	0.0006	0.0110	0.0054	0.0017	0	0.0031	0.0170	0.0031	0.0019	0.0006	0.004	0.65419	D	0.003	0.76473	D	0.231	0.30614	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	0.36	0.11994	N	2.18	0.18875	T	-0.93	0.24898	N	0.055	0.02658	-1.0125	0.26133	T	0.030	0.13023	T	9	0.0051144958	0.00111	T	0.011791	0.29763	T	0.113	0.31778	.	.	0.369682402691	0.36581	0.011609023365672221	0.01120	0.236008608382	0.26139	0.304093897343	0.11015	T	0.004166	0.03571	T	-0.56131	0.00249	T	-0.576725	0.14838	T	0.0477000452076303	0.05090	T	0.806719	0.45571	T	0.047053248	0.07978	0.043350942	0.05373	0.047053248	0.07978	0.043350942	0.05373	-5.113	0.38044	T	.	.	0.155	0.34667	B	.;.	.;.	2.583652	0.33503	19.36	0.99861002336505478	0.93911	0.02492	0.06971	N	AEFBCI	0.017581	0.00471	N	-0.515507597303344	0.21577	1.146199	-0.549320157476918	0.20825	1.12372	0.75303504488105	0.23391	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	0.977	0.977	0.18853	3.029000	0.49397	-5.595000	0.01662	-0.359000	0.05516	0.961000	0.33663	0.000000	0.08366	0.108000	0.18652	0.0:0.7131:0.0:0.2869	3.301	0.06571	730	0.54327	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2583.98	44	chr20	25675213	.	C	T	2583.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=900;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.79;ReadPosRankSum=0.359;SOR=0.655	GT:AD:DP:GQ:PL	0/1:101,101:202:99:2598,0,2453	20	0	1	0
chr20	25676803	25676803	G	C	exonic	ZNF337	.	nonsynonymous SNV	ZNF337:NM_001290261:exon4:c.C485G:p.P162R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.956	P	0.392	B	.	.	1.000	N	0.805	L	3.43	T	-0.968	T	0.011	T	0.176	1.185	9.817	1.13	0.922	0.104	3.460	0.063	0.00245786651831	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs767268965	2.736e-06	2.736e-06	4.084e-06	1.375e-06	1.159e-05	6.4e-07	4.3e-07	.	.	0	0	0	0	1.872e-05	0	8.993e-07	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	0.12305	T	0.307	0.19908	T	0.91	0.50240	P	0.34	0.42389	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	3.43	0.05440	T	-0.7	0.19933	N	0.081	0.05799	-0.9683	0.37551	T	0.011	0.04274	T	9	0.110019684	0.20547	T	0.002458	0.04868	T	0.063	0.18251	0.26	0.20315	0.279370189704	0.27548	0.03604520072150305	0.03551	0.323038571661	0.34472	0.310614407063	0.12000	T	0.005529	0.04982	T	-0.29715	0.08932	T	-0.664612	0.07958	T	0.167807234105139	0.18430	T	0.348165	0.07698	T	0.02731715	0.01907	0.040419128	0.04362	0.02731715	0.01906	0.040419128	0.04362	-3.433	0.15504	T	.	.	0.074	0.06990	B	.;.	.;.	1.672117	0.21320	15.15	0.97819088943353849	0.36181	0.05996	0.11959	N	AEFBHCI	0.024475	0.01522	N	-0.618553324595659	0.18387	0.9542041	-0.777080434556987	0.15057	0.7900123	0.99950873467805	0.40062	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	1.13	1.13	0.19758	-1.062000	0.03579	-7.677000	0.01107	0.495000	0.22486	0.000000	0.06391	0.000000	0.08366	0.653000	0.32775	0.2652:0.0:0.7348:0.0	3.460	0.07097	730	0.54327	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2371.98	44	chr20	25676803	.	G	C	2371.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.859e+00;DP=917;ExcessHet=0.0000;FS=3.080;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=0.687;SOR=0.704	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr20	31389213	31389213	C	T	exonic	DEFB119	.	nonsynonymous SNV	DEFB119:NM_001271209:exon2:c.G76A:p.G26R	.	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.985	D	0.728	P	0.001	D	0.946	N	.	.	0.01	T	-0.819	T	0.246	T	0.47	2.919	15.73	1.9	0.590	0.478	5.225	0.247	0.0209983048538	0.0007	.	0.0008	0	0.0010	0	0.0003	0.0012	0.0022	6.056e-05	0.0007374	114	154602	rs142077212	0.0006	0.0006	0.0006	0.0006	0.0012	0.0006	0.0005	0.0010	0.0009	5.974e-05	0.0012	0.0129	0	0.0001	0.0012	0.0003	0.0013	4.637e-05	0.0007	0.0007	0.0008	0.0007	0.0006	0.0006	0.0006	0.0005	0.0004	7.243e-05	0	0.0005	0.0153	0	0.0003	0	0.0006	0.0014	0	0.0	0.91255	D	0.0	0.92824	D	0.985	0.61118	D	0.728	0.55195	P	0.000924	0.41028	D	0.000000	0.945862	0.37504	D	.	.	.	0.01	0.62459	T	-7.63	0.95424	D	0.584	0.60495	-0.8191	0.53990	T	0.246	0.61471	T	9	0.008507341	0.00193	T	0.020998	0.43698	T	0.247	0.55478	0.457	0.52265	0.523961927912	0.52041	0.7615457523478305	0.76102	0.169751536395	0.19140	0.408201873302	0.26208	T	.	.	.	-0.329936	0.06116	T	-0.292259	0.45538	T	0.17903807759285	0.19174	T	0.639136	0.25234	T	.	.	.	.	.	.	.	.	-7.619	0.58443	D	.	.	0.734	0.74380	P	.	.	2.230002	0.28468	17.81	0.99868664691009734	0.94637	0.07342	0.13364	N	AEFDGBI	0.044842	0.07264	N	-0.0480094877578519	0.39690	2.344779	-0.182382857139057	0.32183	1.828515	9.05377005907234E-5	0.04703	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.87	1.9	0.24770	0.484000	0.22017	0.391000	0.17890	0.599000	0.40250	0.208000	0.24400	0.052000	0.21854	0.991000	0.66497	0.0:0.6747:0.2109:0.1143	5.225	0.14708	519	0.74455	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	510.98	33	chr20	31389213	.	C	T	510.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.284e+00;DP=731;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=0.718;SOR=0.743	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1297	20	0	1	0
chr20	31484327	31484327	C	T	exonic	REM1	.	nonsynonymous SNV	REM1:NM_014012:exon5:c.C794T:p.A265V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.026	B	0.01	B	0.008	N	1.000	N	0	N	-0.2	T	-0.997	T	0.116	T	0.095	2.684	14.94	4.07	1.319	4.040	13.319	0.055	0.021840845457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.22660	T	0.405	0.14771	T	0.026	0.19406	B	0.01	0.14941	B	0.007995	0.31082	N	0.315471	0.999864	0.19989	N	0.69	0.16971	N	-0.2	0.66113	T	-1.14	0.29323	N	0.079	0.05414	-0.9968	0.30810	T	0.116	0.41031	T	10	0.14615431	0.27713	T	0.021841	0.44662	T	0.055	0.15663	0.277	0.23004	0.789945596994	0.78799	0.31420253881138843	0.31333	0.226174836503	0.25174	0.712273061275	0.68923	T	0.016355	0.13533	T	-0.18676	0.22734	T	-0.506044	0.21723	T	0.43438708782196	0.30223	T	0.80202	0.44827	T	0.050792333	0.09231	0.10714637	0.25790	0.050792333	0.09231	0.10714637	0.25790	-7.078	0.54602	T	.	.	0.151	0.33504	B	.	.	2.509170	0.32405	19.03	0.99295644246234582	0.58433	0.89711	0.50352	D	AEFDBHCI	0.545450	0.55996	D	-0.537629520093179	0.20873	1.103618	-0.358586167644568	0.26245	1.448346	0.999930396510538	0.46732	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	5.02	4.07	0.46726	3.457000	0.52771	7.898000	0.73400	-0.320000	0.05874	1.000000	0.71638	1.000000	0.68203	0.040000	0.14268	0.0:0.4749:0.5251:0.0	13.319	0.59862	658	0.62094	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1068.98	35	chr20	31484327	.	C	T	1068.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.362;DP=755;ExcessHet=0.0000;FS=2.033;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.27;ReadPosRankSum=0.504;SOR=0.791	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1038	20	0	1	0
chr20	31908595	31908595	G	A	exonic	TTLL9	.	nonsynonymous SNV	TTLL9:NM_001008409:exon5:c.G211A:p.G71R,	.	.	428	1035	57	2	0	61	0.0286251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.923	P	0.718	P	0.086	U	0.999	D	1.05	L	3.88	T	-1.123	T	0.021	T	0.457	3.401	17.48	5.0	2.480	8.246	15.387	0.140	.	0.0053	0.0081869	0.0086	0.0010	0.0063	0.0001	0.0011	0.0086	0.0159	0.0214	0.0083375	1289	154602	rs184016363	0.0079	0.0080	0.0073	0.0085	0.0354	0.0078	0.0077	0.0315	0.0299	0.0018	0.0083	0.0189	5.04e-05	0.0012	0.0354	0.0071	0.0093	0.0219	0.0078	0.0079	0.0074	0.0083	0.0211	0.0075	0.0073	0.0192	0.0185	0.0015	0.0450	0.0211	0.0181	0	0.0007	0.0238	0.0086	0.0114	0.0176	0.487	0.08067	T	0.483	0.11795	T	0.923	0.51194	P	0.718	0.54779	P	0.086298	0.20595	U	0.329934	0.998888	0.45620	D	1.65	0.42232	L	3.88	0.03570	T	-2.21	0.49684	N	0.455	0.52829	-1.1231	0.02144	T	0.021	0.08686	T	10	0.0056295395	0.00125	T	.	.	.	0.140	0.37593	0.441	0.49648	0.395143324098	0.39128	0.5826443019191341	0.58193	0.448885401441	0.44700	0.709771215916	0.68561	T	0.028686	0.20722	T	-0.455574	0.01047	T	-0.410257	0.32195	T	0.0197168962272677	0.00673	T	0.936106	0.76057	D	0.16107745	0.36092	0.1941582	0.43024	0.16107745	0.36091	0.1941582	0.43023	-13.923	0.92804	D	.	.	0.523	0.65607	A	.;.	.;.	4.893081	0.80360	27.3	0.99869920406664692	0.94726	0.98532	0.83788	D	AEFDBI	0.916601	0.88303	D	0.525809447681056	0.68622	5.242455	0.570445247355899	0.72829	5.872178	0.999999999912735	0.74766	0.559995	0.30671	0	0.573888	0.26702	0	0.527494	0.11647	0	0.542086	0.14980	0	.	.	5.0	5.0	0.66209	8.307000	0.89885	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.891000	0.42908	0.0:0.0:1.0:0.0	15.387	0.74430	689	0.59000	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1312.98	34	chr20	31908595	.	G	A	1312.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.390e-01;DP=766;ExcessHet=0.0000;FS=3.258;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.21;ReadPosRankSum=0.250;SOR=0.355	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1255	20	0	1	0
chr20	32014983	32014983	G	A	exonic	CCM2L	.	nonsynonymous SNV	CCM2L:NM_001365692:exon2:c.G110A:p.R37Q	.	.	.	.	.	.	.	.	.	.	.	3292497	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	2.495	M	0.54	T	-0.206	T	0.367	T	0.829	5.649	36	4.66	2.418	8.977	16.712	0.435	0.0323207142011	.	.	8.544e-06	0	0	0	0	0	0	7.348e-05	6.5e-06	1	154602	rs748777189	2.018e-05	2.326e-05	2.632e-05	1.399e-05	2.723e-05	1.416e-05	1.224e-05	1.225e-05	1.04e-05	0	2.463e-05	0	2.723e-05	0	0	1.907e-05	6.748e-05	2.382e-05	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999679	0.48205	D	2.56	0.74772	M	0.54	0.54911	T	-3.12	0.63782	D	0.888	0.88687	-0.2061	0.77514	T	0.367	0.72750	T	10	0.8188257	0.81100	D	0.032321	0.54176	D	0.435	0.74022	0.388	0.40951	0.613242938708	0.61012	0.5246419303817471	0.52388	0.134347377349	0.15131	0.672524273396	0.63198	T	.	.	.	0.14989	0.69257	D	0.0851865	0.75924	D	0.995374143123627	0.87309	D	0.90161	0.65783	D	.	.	.	.	.	.	.	.	-11.228	0.80893	D	.	.	0.922	0.84333	P	.	.	5.485236	0.91421	32	0.99953007270107275	0.99957	0.99197	0.92664	D	AEFDBI	0.908087	0.86294	D	0.868934323766213	0.90159	10.27846	0.8125365046741	0.90651	10.505	0.999999999999968	0.74766	0.651	0.46895	0	0.563428	0.19063	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	4.66	4.66	0.57857	9.139000	0.93777	11.781000	0.96113	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	16.712	0.85247	500	0.76024	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2416.98	35	chr20	32014983	.	G	A	2416.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=901;ExcessHet=0.0000;FS=3.516;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=1.37;SOR=0.465	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1207	20	0	1	0
chr20	32052437	32052437	T	C	exonic	HCK	.	nonsynonymous SNV	HCK:NM_001172130:exon1:c.T13C:p.S5P	.	.	414	1107	1	0	0	1	0.000451467	.	.	2428212	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	0.169	N	1.000	D	0.805	L	-0.84	T	-0.914	T	0.196	T	0.156	2.822	15.40	0.687	0.112	0.527	4.455	0.187	0.10967920031	.	.	.	.	.	.	.	.	.	.	.	.	.	rs957448914	1.329e-05	2.599e-05	1.185e-05	1.485e-05	0.0007	7.98e-06	6.32e-06	0.0002	0.0001	0	0	0	0	2.636e-05	0.0007	9.606e-06	4.435e-05	0	7.901e-05	7.886e-05	6.434e-05	9.44e-05	0.0006	4.505e-05	3.519e-05	0.0003	0.0002	2.419e-05	0	0.0006	0	0	0	0	1.472e-05	0.0005	0	0.0	0.91255	D	0.104	0.41074	T	0.0	0.02946	B	0.0	0.01387	B	0.169136	0.17427	N	0.319446	0.999996	0.58761	D	1.95	0.52479	M	-0.84	0.74265	T	-0.22	0.10480	N	0.252	0.28498	-0.9139	0.46364	T	0.196	0.54970	T	10	0.065944284	0.08972	T	0.109679	0.78674	D	0.187	0.46274	0.106	0.01810	0.783308726947	0.78130	0.10110937250270897	0.10041	.	.	0.75763887167	0.75578	T	0.009556	0.31948	T	-0.0870355	0.38565	T	-0.362797	0.37728	T	0.506542921066284	0.32869	D	0.449255	0.12651	T	0.22419545	0.45056	0.19252543	0.42772	0.22419545	0.45056	0.19252543	0.42771	-5.221	0.39155	T	.	.	0.064	0.03197	B	.;.;.;.	.;.;.;.	3.090811	0.41615	21.4	0.99484598679944303	0.67069	0.14461	0.18415	N	AEFDBCI	0.120338	0.23446	N	-0.617436490712869	0.18420	0.9561971	-0.566408689253108	0.20372	1.09725	0.999998832462309	0.74766	0.59774	0.34471	0	0.52208	0.09955	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	3.04	0.687	0.17184	0.148000	0.16042	0.109000	0.14755	0.580000	0.29708	0.257000	0.24919	0.018000	0.20648	0.965000	0.52897	0.0:0.383:0.0:0.617	4.455	0.11062	502	0.75873	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	279.98	35	chr20	32052437	.	T	C	279.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.760e+00;DP=707;ExcessHet=0.0000;FS=1.527;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.00;ReadPosRankSum=0.782;SOR=0.307	GT:AD:DP:GQ:PL	0/0:26,0:26:72:0,72,1080	20	0	1	0
chr20	32071735	32071735	C	G	exonic	HCK	.	nonsynonymous SNV	HCK:NM_001172129:exon2:c.C73G:p.P25A	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.0	B	0.002	B	0.661	N	1.000	N	0.55	N	-0.67	T	-1.012	T	0.160	T	0.146	0.842	8.401	-0.253	0.182	-0.221	3.176	0.050	0.0105029023185	0.0006	0.000998403	0.0003	0.0021	8.646e-05	0	0	0.0003	0	0	0.0002975	46	154602	rs147906206	0.0002	0.0002	0.0002	0.0002	0.0030	0.0002	0.0001	0.0025	0.0023	0.0030	0.0002	3.827e-05	0	1.872e-05	0.0026	9.083e-05	0.0004	0	0.0008	0.0008	0.0008	0.0008	0.0024	0.0007	0.0006	0.0020	0.0019	0.0024	0	0.0003	0	0	0	0.0034	0.0002	0.0014	0	0.247	0.20683	T	0.779	0.11004	T	0.0	0.02946	B	0.002	0.06944	B	0.660694	0.05978	N	1.240240	1	0.08975	N	1.245	0.31408	L	-0.67	0.72678	T	-0.24	0.12099	N	0.22	0.25006	-1.0116	0.26416	T	0.160	0.49447	T	10	0.0047525167	0.00100	T	0.010503	0.27109	T	0.050	0.13987	.	.	0.475430695062	0.47172	0.06030458553689394	0.05970	.	.	0.218865916133	0.01245	T	0.006951	0.31691	T	-0.481002	0.00729	T	-0.470487	0.25464	T	0.00243759738003591	0.00025	T	0.514149	0.16548	T	0.02249149	0.00916	0.030427882	0.01497	0.02249149	0.00916	0.030427882	0.01497	-4.215	0.29339	T	.	.	0.060	0.00890	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-0.111212	0.03574	0.694	0.59816665029212734	0.06314	0.03789	0.09113	N	AEFBI	0.077547	0.15626	N	-1.12999471740164	0.06115	0.2806529	-1.16011195805502	0.06589	0.317622	0.999582906820994	0.40607	0.626454	0.40138	0	0.80507	0.99744	0	0.675528	0.61593	0	0.631631	0.49550	0	.	.	4.28	-0.253	0.12353	0.152000	0.16120	-0.475000	0.08954	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.3642:0.4286:0.0:0.2071	3.176	0.06175	463	0.78548	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2189.98	33	chr20	32071735	.	C	G	2189.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.650e-01;DP=820;ExcessHet=0.0000;FS=3.282;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.25;ReadPosRankSum=-1.540e+00;SOR=0.937	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1074	20	0	1	0
chr20	32202085	32202085	G	A	exonic	PLAGL2	.	nonsynonymous SNV	PLAGL2:NM_002657:exon2:c.C94T:p.R32W,	.	.	418	1076	25	3	0	31	0.0142006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.004	B	0.001	B	0.005	N	0.998	D	2.38	M	2.94	T	-1.117	T	0.029	T	0.312	2.537	14.44	4.55	2.334	2.679	12.653	0.100	0.00458705544387	0.0038	0.00239617	0.0041	0.0009	0.0081	0	0.0009	0.0052	0.0077	0.0024	0.0041526	642	154602	rs61757724	0.0041	0.0041	0.0040	0.0042	0.0612	0.0040	0.0040	0.0559	0.0539	0.0016	0.0081	0.0214	0	0.0009	0.0612	0.0036	0.0062	0.0027	0.0039	0.0039	0.0041	0.0037	0.0078	0.0036	0.0035	0.0066	0.0062	0.0012	0	0.0078	0.0248	0	0.0008	0.0408	0.0042	0.0114	0.0021	0.001	0.78490	D	0.003	0.76473	D	0.004	0.12183	B	0.001	0.04355	B	0.004726	0.33446	N	0.247205	0.998256	0.44686	D	1.985	0.53793	M	2.94	0.09728	T	-2.08	0.47514	N	0.18	0.19459	-1.1170	0.02531	T	0.029	0.12278	T	10	0.0054250658	0.00119	T	0.004587	0.11346	T	0.100	0.28662	.	.	0.283272178027	0.27931	0.4715079500319667	0.47069	1.22552299386	0.81193	0.607366800308	0.53944	T	0.322051	0.69309	T	-0.48518	0.00691	T	-0.465419	0.26011	T	0.0339372128530797	0.02626	T	0.948305	0.80045	D	0.17089964	0.37691	0.18740055	0.41970	0.17089964	0.37691	0.18740055	0.41969	-5.061	0.37495	T	.	.	0.231	0.46436	B	.	.	4.882313	0.80089	27.2	0.99842226990161198	0.92229	0.84030	0.43117	D	AEFDBHCI	0.625868	0.60891	D	0.0630722678816561	0.44747	2.74306	0.17498620202881	0.48480	3.063401	0.999999999793743	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.55	4.55	0.55429	4.217000	0.58344	11.865000	0.98423	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.1804:0.8195:0.0	12.653	0.56136	365	0.84644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1191.98	34	chr20	32202085	.	G	A	1191.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.37;DP=846;ExcessHet=0.0000;FS=3.197;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.88;MQRankSum=-1.276e+00;QD=8.76;ReadPosRankSum=-1.266e+00;SOR=1.004	GT:AD:DP:GQ:PL	0/1:85,51:136:99:1206,0,2130	20	0	1	0
chr20	32215420	32215420	G	A	exonic	POFUT1	.	nonsynonymous SNV	POFUT1:NM_015352:exon3:c.G398A:p.R133Q	Dowling-Degos disease 2, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.992	D	0.74	P	0.000	D	1.000	D	2.56	M	1.55	T	-0.908	T	0.169	T	0.855	5.662	36	5.64	2.664	9.151	19.715	0.348	0.0243673119479	.	.	2.478e-05	0	0	0.0001	0	3.007e-05	0	0	1.94e-05	3	154602	rs777768127	9.581e-06	9.577e-06	6.808e-06	1.238e-05	2.988e-05	5.56e-06	4.35e-06	5.31e-06	3.88e-06	2.988e-05	0	0	2.52e-05	0	0	9.895e-06	0	1.16e-05	3.287e-05	3.283e-05	2.57e-05	4.037e-05	9.66e-05	1.261e-05	7.98e-06	3.251e-05	1.916e-05	9.66e-05	0	0	0	0	0	0	1.47e-05	0	0	0.113	0.29029	T	0.509	0.10857	T	0.95	0.64738	P	0.64	0.55692	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.735	0.79925	M	1.55	0.29866	T	-1.54	0.37375	N	0.835	0.83066	-0.9083	0.47061	T	0.169	0.50858	T	10	0.5695101	0.65239	D	0.024367	0.47357	T	0.348	0.66956	.	.	0.378867003059	0.37503	0.7529231981420781	0.75239	0.763629131486	0.64388	0.544515371323	0.45084	T	0.091211	0.38747	T	0.0657758	0.60330	T	0.0258341	0.72007	D	0.610581563551104	0.36824	D	0.963704	0.87416	D	0.6245991	0.74009	0.4562598	0.68394	0.6245991	0.74010	0.4562598	0.68395	-5.407	0.40987	T	.	.	0.571	0.67660	P	.;.	.;.	5.525844	0.91826	32	0.99947642914216484	0.99923	0.99197	0.92664	D	AEFBI	0.868237	0.78829	D	0.783410909535958	0.85057	8.464172	0.795443365792414	0.89474	9.990078	0.99999999999885	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	9.523000	0.97087	11.905000	0.99459	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.715	0.96110	350	0.85473	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1320.98	33	chr20	32215420	.	G	A	1320.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=806;ExcessHet=0.0000;FS=1.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=-4.800e-02;SOR=0.522	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1269	20	0	1	0
chr20	32456182	32456182	G	A	exonic	NOL4L	.	nonsynonymous SNV	NOL4L:NM_001351680:exon3:c.C323T:p.S108L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.93	T	0.296	B	0.024	B	0.368	N	1.000	D	0.805	L	.	.	-1.062	T	0.083	T	0.088	1.340	10.40	4.09	2.334	6.198	11.949	0.062	0.0068475974796	.	0.000798722	0.0005	0	8.708e-05	0	0	4.641e-05	0	0.0041	0.0004463	69	154602	rs541553258	0.0002	0.0002	0.0001	0.0003	0.0036	0.0002	0.0002	0.0033	0.0032	0	0	0	5.218e-05	1.893e-05	0.0002	7.242e-06	0.0002	0.0036	0.0001	0.0001	7.705e-05	0.0001	0.0027	7.083e-05	5.74e-05	0.0016	0.0013	2.404e-05	0	0	0	0.0002	0	0	2.94e-05	0	0.0027	0.491	0.07969	T	0.346	0.17696	T	0.296	0.32457	B	0.024	0.20255	B	0.368460	0.13564	N	0.696787	1	0.08975	N	.	.	.	.	.	.	-0.38	0.13418	N	0.536	0.56403	-1.0615	0.11385	T	0.083	0.32470	T	9	0.0069964826	0.00159	T	0.006848	0.18121	T	0.062	0.17934	.	.	0.043077524339	0.03247	0.1188255053769968	0.11809	0.238803893762	0.26431	.	.	.	0.025161	0.18867	T	-0.527439	0.00398	T	-0.533457	0.18942	T	0.0635478815302345	0.07715	T	0.90041	0.65400	D	0.039680246	0.05524	0.04895584	0.07378	0.039680246	0.05524	0.04895584	0.07378	-3.546	0.17082	T	.	.	0.075	0.16886	B	.;.;.	.;.;.	2.964535	0.39493	21.0	0.97180648979261375	0.32718	0.97248	0.73568	D	AEFDGBI	0.529619	0.55066	D	-0.284787191324329	0.29735	1.651634	-0.156897260039894	0.33144	1.892876	0.999999998185333	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.04	4.09	0.47038	6.548000	0.73797	11.772000	0.95887	0.676000	0.76740	0.993000	0.37899	1.000000	0.68203	0.122000	0.19250	0.0839:0.0:0.9161:0.0	11.949	0.52232	566	0.70798	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2047.98	36	chr20	32456182	.	G	A	2047.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=869;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=1.95;SOR=0.670	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1165	20	0	1	0
chr20	32795493	32795493	A	G	exonic	DNMT3B	.	nonsynonymous SNV	DNMT3B:NM_001207056:exon8:c.A923G:p.Y308C	Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Autosomal recessive	.	0	1502	20	0	0	20	0.00661376	.	.	335228	Centromeric_instability_of_chromosomes_1,9_and_16_and_immunodeficiency|not_provided|Kabuki_syndrome_1|not_specified|Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_1	MONDO:MONDO:0000133,MedGen:C0398788,OMIM:PS242860,Orphanet:2268|MedGen:C3661900|MONDO:MONDO:0007843,MedGen:CN030661,OMIM:147920,Orphanet:2322|MedGen:CN169374|MONDO:MONDO:0009454,MedGen:C4551557,OMIM:242860,Orphanet:2268	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.2	T	0.002	B	0.007	B	0.159	N	0.897	N	0.895	L	-4.1	D	-0.212	T	0.681	D	0.149	0.935	8.808	1.52	0.923	0.821	0.661	0.040	.	0.0002	0.0159744	0.0089	9.615e-05	0.0014	0	0.0002	0.0002	0.0033	0.0634	0.0078071	1207	154602	rs143462810	0.0039	0.0039	0.0022	0.0056	0.0605	0.0038	0.0038	0.0591	0.0586	2.987e-05	0.0007	3.826e-05	0.0002	1.872e-05	0.0035	8.183e-05	0.0047	0.0605	0.0024	0.0024	0.0012	0.0037	0.0687	0.0022	0.0021	0.0626	0.0602	0.0001	0	0.0008	0	0.0008	0	0	0.0002	0.0009	0.0687	0.145	0.27544	T	0.183	0.29153	T	0.002	0.09854	B	0.002	0.12992	B	0.158811	0.17729	N	0.605501	0.981461	0.27779	N	1.59	0.40313	L	-4.1	0.96659	D	-1.6	0.38540	N	0.183	0.19861	-0.2123	0.77353	T	0.681	0.88970	D	10	0.0021784306	0.00031	T	.	.	.	0.227	0.52620	.	.	0.589340249404	0.58608	0.1875452257985568	0.18672	0.223836274765	0.24900	0.550995111465	0.45997	T	0.077281	0.35617	T	-0.313969	0.07403	T	-0.178981	0.56617	T	0.0228577437426008	0.01006	T	0.883212	0.61335	D	0.059401006	0.12068	0.049619008	0.07621	0.079411715	0.18141	0.049619008	0.07621	-3.065	0.10898	T	0.08472745542654836	0.04706	0.050	0.00145	B	.;.;.;.;.;.	.;.;.;.;.;.	1.736035	0.22091	15.48	0.8761316044698515	0.17354	0.10758	0.16172	N	AEFBCI	0.043783	0.06965	N	-0.843575027149107	0.12208	0.5937067	-0.770910383119167	0.15210	0.7987583	0.992998457867523	0.33045	0.631515	0.41029	0	0.588066	0.40923	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	5.2	1.52	0.22158	0.858000	0.27500	0.534000	0.19274	0.756000	0.94297	0.052000	0.21487	0.000000	0.08366	0.934000	0.47231	0.4673:0.1989:0.1427:0.1911	0.661	0.00789	311	0.87433	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1817.98	34	chr20	32795493	.	A	G	1817.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.253;DP=836;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.99;ReadPosRankSum=1.77;SOR=0.675	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1257	20	0	1	0
chr20	32795501	32795501	G	A	exonic	DNMT3B	.	nonsynonymous SNV	DNMT3B:NM_001207056:exon8:c.G931A:p.G311S	Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	335232	not_provided|Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_1|Centromeric_instability_of_chromosomes_1,9_and_16_and_immunodeficiency|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0009454,MedGen:C4551557,OMIM:242860,Orphanet:2268|MONDO:MONDO:0000133,MedGen:C0398788,OMIM:PS242860,Orphanet:2268|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.74	T	0.892	P	0.242	B	0.260	N	1.000	D	1.01	L	-4.08	D	0.192	D	0.687	D	0.076	-0.182	3.116	3.31	1.404	0.807	7.917	0.235	0.0992234637661	0.0002	.	0.0003	0.0010	0.0003	0	0	0.0003	0.0033	0	0.0002329	36	154602	rs148646143	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	0.0007	0.0007	0	0	1.872e-05	0.0014	0.0002	0.0006	3.478e-05	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0003	0.0006	0	0.0006	0	0	0	0	0.0002	0	0	0.163	0.23450	T	0.775	0.04402	T	0.892	0.49086	P	0.242	0.38699	B	0.259900	0.15336	N	0.662664	0.999914	0.51042	D	0.46	0.12951	N	-4.08	0.96594	D	-0.7	0.19933	N	0.143	0.20395	0.192	0.85777	D	0.687	0.89195	D	10	0.046581447	0.03867	T	0.099223	0.77073	D	0.235	0.53788	.	.	0.689903171571	0.68724	0.3317558292031476	0.33088	0.720945527745	0.62206	0.438511133194	0.30374	T	0.042396	0.26168	T	-0.295743	0.09067	T	-0.283095	0.46486	T	0.0162305453987428	0.00396	T	0.844715	0.52235	T	0.048159484	0.08350	0.055771515	0.09843	0.048159484	0.08349	0.055771515	0.09843	-3.948	0.33015	T	0.08001358025516235	0.03995	0.083	0.09239	B	.;.;.;.;.;.	.;.;.;.;.;.	2.392160	0.30723	18.52	0.56822127601155636	0.05635	0.39012	0.26117	N	AEFBCI	0.023183	0.01257	N	-0.536930855376907	0.20895	1.104937	-0.470876511678471	0.22960	1.249733	0.997518211851135	0.35704	0.631515	0.41029	0	0.588066	0.40923	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	5.29	3.31	0.37025	0.863000	0.27567	4.950000	0.46275	0.676000	0.76740	0.666000	0.28313	1.000000	0.68203	0.241000	0.23027	0.2463:0.0:0.7537:0.0	7.917	0.28987	311	0.87433	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1884.98	34	chr20	32795501	.	G	A	1884.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.68;DP=959;ExcessHet=0.0000;FS=0.581;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=0.076;SOR=0.776	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1257	20	0	1	0
chr20	32839770	32839770	G	A	exonic	MAPRE1	.	nonsynonymous SNV	MAPRE1:NM_012325:exon5:c.G511A:p.A171T,	.	.	418	1086	18	0	0	18	0.00821918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.004	B	0.006	B	0.023	N	0.997	D	0.49	N	0.75	T	-1.091	T	0.076	T	0.253	1.392	10.59	3.08	0.786	1.436	13.315	0.031	.	0.0002	0.00299521	0.0019	0.0003	0.0007	0	0	0.0002	0.0055	0.0121	0.0016494	255	154602	rs374092179	0.0008	0.0008	0.0005	0.0012	0.0121	0.0008	0.0008	0.0115	0.0112	2.987e-05	6.708e-05	0	0	0	0.0050	7.194e-05	0.0011	0.0121	0.0005	0.0005	0.0002	0.0007	0.0108	0.0004	0.0003	0.0084	0.0076	9.623e-05	0	0.0003	0	0	0	0.0034	0.0001	0.0005	0.0108	0.244	0.17468	T	0.34	0.18018	T	0.004	0.12183	B	0.006	0.12133	B	0.022673	0.26589	N	0.399541	0.996799	0.43422	D	0.965	0.23975	L	0.75	0.50192	T	0.48	0.03041	N	0.216	0.24135	-1.0915	0.05286	T	0.076	0.30429	T	10	0.0037770271	0.00070	T	.	.	.	0.031	0.07369	.	.	0.417183330711	0.41332	0.4672995081289453	0.46648	0.367858101756	0.38347	0.461358457804	0.33497	T	0.046655	0.27488	T	-0.489096	0.00657	T	-0.463652	0.26202	T	0.0044250417205482	0.00047	T	0.69903	0.30897	T	0.099409126	0.23461	0.11817439	0.28527	0.099409126	0.23461	0.11817439	0.28526	-4.527	0.31240	T	.	.	0.066	0.02200	B	.	.	1.979463	0.25148	16.66	0.97027241803136388	0.32051	0.84481	0.43563	D	AEFDBCI	0.340668	0.43741	N	-0.718343764915602	0.15507	0.7820598	-0.573407941403257	0.20187	1.086516	0.638446806586041	0.22031	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.11	3.08	0.34576	1.529000	0.35602	5.632000	0.49119	-0.199000	0.08999	0.993000	0.37899	1.000000	0.68203	0.120000	0.19168	0.0:0.0:0.6913:0.3087	13.315	0.59840	286	0.88678	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2814.11	42	chr20	32839770	.	G	A	2814.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.681;DP=995;ExcessHet=0.1072;FS=1.672;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.27;ReadPosRankSum=0.340;SOR=0.614	GT:AD:DP:GQ:PL	0/0:84,0:84:99:0,120,1800	19	0	2	0
chr20	33037610	33037610	G	A	exonic	BPIFB6	.	nonsynonymous SNV	BPIFB6:NM_174897:exon8:c.G718A:p.G240R,	.	.	428	1093	1	0	0	1	0.000457247	.	.	3302018	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.37	T	0.004	B	0.003	B	0.503	N	1.000	N	0.7	N	3.27	T	-0.939	T	0.016	T	0.068	-1.239	0.055	0.761	0.009	0.234	6.456	0.029	0.00226564643552	.	.	1.652e-05	0	8.652e-05	0	0	0	0	6.075e-05	2.59e-05	4	154602	rs202105575	5.747e-05	5.746e-05	5.854e-05	5.639e-05	0.0002	4.744e-05	4.367e-05	5.248e-05	4.823e-05	2.987e-05	6.71e-05	0	2.52e-05	0	0.0002	6.476e-05	4.969e-05	3.479e-05	5.911e-05	5.906e-05	6.426e-05	5.373e-05	0.0004	3.076e-05	2.209e-05	0.0002	0.0001	2.407e-05	0	0.0004	0	0	0	0.0034	0	0.0005	0	0.461	0.08710	T	0.359	0.17014	T	0.004	0.12183	B	0.003	0.08700	B	0.503217	0.05104	N	1.335750	1	0.08975	N	1.285	0.32305	L	3.27	0.06602	T	-1.58	0.38151	N	0.24	0.27077	-0.9387	0.42822	T	0.016	0.06664	T	10	0.080651134	0.13115	T	0.002266	0.04314	T	0.029	0.06676	0.492	0.57890	0.0297737177859	0.01360	0.35767769461205245	0.35681	0.0568055738289	0.06281	0.262918442488	0.05243	T	5.8E-4	0.00238	T	-0.527728	0.00396	T	-0.792221	0.02105	T	0.0170827880501747	0.00455	T	0.442056	0.12263	T	0.03768783	0.04878	0.06877765	0.14407	0.03768783	0.04878	0.06877765	0.14407	-3.567	0.17381	T	.	.	0.081	0.08465	B	.	.	-0.189316	0.03145	0.508	0.16506673427735899	0.00445	0.03657	0.08914	N	AEFGBI	0.061965	0.11882	N	-1.20117677795653	0.04984	0.2261396	-1.22470879024877	0.05515	0.2629893	5.28020729561185E-5	0.04171	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.15	0.761	0.17594	0.256000	0.18120	0.242000	0.16320	-0.703000	0.04025	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3564:0.0:0.6436:0.0	6.456	0.21128	102	0.95784	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	989.98	34	chr20	33037610	.	G	A	989.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.88;DP=768;ExcessHet=0.0000;FS=1.707;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=0.301;SOR=0.528	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1155	20	0	1	0
chr20	33038948	33038948	C	T	exonic	BPIFB6	.	nonsynonymous SNV	BPIFB6:NM_174897:exon9:c.C886T:p.R296C,	.	.	417	1094	10	1	0	12	0.00545455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.7	P	0.376	B	0.862	N	1.000	N	0.345	N	3.02	T	-0.957	T	0.015	T	0.146	1.334	10.38	-3.18	-0.348	-0.058	8.040	0.100	0.00534922161331	0.0005	0.000199681	0.0006	0.0002	0.0016	0	0	0.0007	0.0044	0.0003	0.0005563	86	154602	rs150580944	0.0004	0.0004	0.0004	0.0004	0.0061	0.0004	0.0004	0.0045	0.0039	0.0001	0.0014	0.0001	2.519e-05	3.744e-05	0.0061	0.0004	0.0010	0.0002	0.0005	0.0005	0.0005	0.0004	0.0018	0.0004	0.0003	0.0012	0.0011	0.0002	0	0.0018	0	0	0	0.0034	0.0005	0.0019	0	0.006	0.61437	D	0.102	0.38450	T	0.7	0.41856	P	0.376	0.43735	B	0.861698	0.08890	N	0.926816	0.999975	0.18612	N	0.345	0.11182	N	3.02	0.08986	T	-1.29	0.32387	N	0.303	0.34228	-0.9566	0.39807	T	0.015	0.05994	T	10	0.021534175	0.00517	T	0.005349	0.13710	T	0.100	0.28662	.	.	0.0954503805726	0.09146	0.2635601517270543	0.26269	0.205693857256	0.22994	0.27710211277	0.07091	T	0.001954	0.01365	T	-0.607013	0.00132	T	-0.685242	0.06668	T	0.0405367354839491	0.03787	T	0.614539	0.23442	T	0.13008273	0.30362	0.07273261	0.15725	0.13008273	0.30362	0.07273261	0.15724	-4.518	0.31123	T	.	.	0.122	0.25429	B	.	.	2.390705	0.30700	18.52	0.97830499804926696	0.36259	0.09271	0.15061	N	AEFDBI	0.142802	0.26533	N	-0.755422559490883	0.14486	0.7220155	-0.831148809343875	0.13741	0.7144963	4.35350766112815E-5	0.03989	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.48	-3.18	0.04867	-0.184000	0.09693	1.691000	0.28071	-0.112000	0.15009	0.095000	0.22689	1.000000	0.68203	0.006000	0.07323	0.168:0.5274:0.3046:0.0	8.040	0.29677	102	0.95784	Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	877.98	105	chr20	33038948	.	C	T	877.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=859;ExcessHet=0.0000;FS=0.748;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.36;ReadPosRankSum=-1.334e+00;SOR=0.610	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr20	33083769	33083769	T	G	exonic	BPIFB4	.	nonsynonymous SNV	BPIFB4:NM_182519:exon3:c.T572G:p.L191R,	.	.	425	1050	47	0	0	47	0.021891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.995	D	0.979	D	0.419	N	0.854	D	0.895	L	4.9	T	-0.788	T	0.011	T	0.659	2.110	13.01	3.33	1.516	3.953	8.272	0.134	.	0.0013	0.00459265	0.0047	0.0002	0.0009	0.0001	0	0.0022	0.0158	0.0237	0.0040297	623	154602	rs144272671	0.0027	0.0027	0.0020	0.0035	0.0228	0.0027	0.0026	0.0220	0.0216	0.0001	0.0008	0.0041	0.0001	0.0004	0.0223	0.0014	0.0036	0.0228	0.0017	0.0018	0.0012	0.0024	0.0227	0.0016	0.0015	0.0192	0.0179	0.0002	0	0.0008	0.0046	0.0006	0	0.0068	0.0016	0.0038	0.0227	0.0	0.91255	D	0.002	0.79402	D	0.995	0.67487	D	0.979	0.74454	D	0.419352	0.12891	N	0.672431	0.854418	0.35277	D	0.975	0.24501	L	4.9	0.01421	T	-0.7	0.19933	N	0.675	0.68255	-0.7879	0.55851	T	0.011	0.03903	T	10	0.005472988	0.00121	T	.	.	.	0.134	0.36365	.	.	0.437850553699	0.43404	0.6371477978752561	0.63648	0.427416486796	0.43086	0.647883415222	0.59685	T	0.00806	0.07418	T	-0.395404	0.02482	T	-0.323162	0.42226	T	0.0287560068156817	0.01800	T	0.717528	0.33029	T	0.3704387	0.58618	0.3850638	0.63432	0.3704387	0.58618	0.3850638	0.63432	-10.483	0.76749	D	.	.	0.627	0.69979	P	.	.	4.390380	0.67755	25.1	0.99700333214650194	0.80591	0.93071	0.57254	D	AEFDGBI	0.347638	0.44204	N	0.237604612350497	0.53029	3.473762	0.162506508952896	0.47808	3.005565	0.0105271983690197	0.12039	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.33	3.33	0.37245	1.103000	0.30674	7.682000	0.65344	0.644000	0.52426	0.073000	0.22155	1.000000	0.68203	0.776000	0.36750	0.0:0.0:0.0:1.0	8.272	0.31011	101	0.95833	Lipid-binding serum glycoprotein, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1077.98	38	chr20	33083769	.	T	G	1077.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.800e-01;DP=1241;ExcessHet=0.0000;FS=3.452;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.84;ReadPosRankSum=1.50;SOR=1.044	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1097	20	0	1	0
chr20	33217630	33217630	G	C	exonic	BPIFA3	.	nonsynonymous SNV	BPIFA3:NM_001042439:exon1:c.G94C:p.A32P	.	.	426	1075	21	0	0	21	0.00967296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.996	D	0.953	D	0.166	N	0.998	N	0.895	L	1.75	T	-1.069	T	0.112	T	0.511	1.596	11.29	2.28	0.690	0.579	6.506	0.123	.	0.0002	0.00319489	0.0014	0	0.0010	0	0	0.0010	0.0011	0.0057	0.0013195	204	154602	rs181900900	0.0008	0.0008	0.0007	0.0010	0.0056	0.0008	0.0008	0.0052	0.0050	0.0003	0.0007	0.0083	2.519e-05	0	0.0047	0.0003	0.0014	0.0056	0.0009	0.0009	0.0007	0.0010	0.0083	0.0007	0.0007	0.0063	0.0056	0.0001	0	0.0007	0.0061	0	0	0	0.0007	0.0019	0.0083	0.017	0.58626	D	0.014	0.62352	D	0.877	0.68779	P	0.451	0.69275	P	0.165763	0.17523	N	0.481193	0.998	0.22589	N	1.65	0.42232	L	1.75	0.37746	T	-1.1	0.32791	N	0.276	0.33140	-1.0687	0.09701	T	0.112	0.40029	T	10	0.0075567067	0.00172	T	.	.	.	0.123	0.34020	.	.	0.459192005304	0.45545	0.6299885124784714	0.62932	0.0782960899249	0.08811	0.363554656506	0.19902	T	0.030091	0.21412	T	-0.445801	0.01196	T	-0.41191	0.32006	T	0.0636152545167251	0.07724	T	0.648035	0.25918	T	0.25490013	0.48521	0.20711122	0.44955	0.25490013	0.48521	0.20711122	0.44954	-3.708	0.20640	T	.	.	0.147	0.45593	B	.;.	.;.	1.593372	0.20375	14.72	0.99503038794280496	0.68147	0.08710	0.14600	N	AEFDBI	0.086296	0.17498	N	-0.275635036701696	0.30092	1.674727	-0.416724984199146	0.24506	1.342324	1.94871559436246E-4	0.05898	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.36	2.28	0.27583	0.589000	0.23640	1.661000	0.27900	-0.103000	0.15852	0.000000	0.06391	0.004000	0.18990	0.011000	0.09372	0.2333:0.0:0.7667:0.0	6.506	0.21391	96	0.96030	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1655.98	34	chr20	33217630	.	G	C	1655.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.362e+00;DP=817;ExcessHet=0.0000;FS=3.299;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=-4.520e-01;SOR=0.462	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1188	20	0	1	0
chr20	33237727	33237727	G	A	exonic	BPIFA1	.	nonsynonymous SNV	BPIFA1:NM_001243193:exon2:c.G16A:p.G6S	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87	T	0.001	B	0.003	B	0.623	N	1.000	N	0.39	N	2.69	T	-0.935	T	0.016	T	0.09	1.260	10.11	0.989	0.130	0.021	4.196	0.085	0.00325435080307	7.7e-05	.	1.806e-05	0	0	0	0	3.124e-05	0	0	1.94e-05	3	154602	rs374193470	4.584e-06	1.163e-05	2.985e-06	6.26e-06	6.761e-05	1.65e-06	1.08e-06	2.277e-05	1.362e-05	0	0	0	0	0	0	1.932e-06	0	6.761e-05	6.574e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.758	0.03502	T	0.417	0.14241	T	0.001	0.07471	B	0.003	0.08700	B	0.623410	0.10755	N	0.833791	1	0.08975	N	0.505	0.13445	N	2.69	0.12268	T	-0.66	0.19085	N	0.097	0.18376	-0.9353	0.43349	T	0.016	0.06425	T	10	0.096161485	0.17229	T	0.003254	0.07177	T	0.085	0.24743	.	.	0.0666544352282	0.05500	0.2984634169577565	0.29759	0.0219534897478	0.02200	0.267213970423	0.05780	T	0.193698	0.54925	T	-0.500757	0.00566	T	-0.768629	0.02813	T	0.0197531391636241	0.00677	T	0.535446	0.17943	T	0.030776253	0.02799	0.04093911	0.04540	0.030776253	0.02799	0.04093911	0.04539	-2.741	0.09914	T	.	.	0.092	0.19032	B	.;.;.;.	.;.;.;.	-0.016509	0.04170	1.005	0.72966523965957952	0.10159	0.03582	0.08799	N	AEFBI	0.050317	0.08782	N	-1.13714794508189	0.05994	0.274772	-1.12282772893111	0.07265	0.3527479	1.31891195088915E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.11	0.989	0.18920	0.034000	0.13663	-0.044000	0.12631	0.676000	0.76740	0.003000	0.16062	0.002000	0.18203	0.004000	0.06068	0.2842:0.171:0.5448:0.0	4.196	0.09902	81	0.96616	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1617.98	34	chr20	33237727	.	G	A	1617.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.08;DP=920;ExcessHet=0.0000;FS=5.267;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=-9.400e-02;SOR=0.386	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,102,1530	20	0	1	0
chr20	33291016	33291016	G	A	exonic	BPIFB1	.	nonsynonymous SNV	BPIFB1:NM_033197:exon5:c.G425A:p.R142H,	.	.	421	1099	1	1	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.004	B	0.005	B	0.569	N	1.000	N	0.485	N	3.38	T	-0.927	T	0.011	T	0.388	1.229	9.985	-5.93	-1.020	-0.482	8.505	0.063	0.00736572939817	.	0.000599042	0.0002	0	0.0003	0	0	0.0002	0.0034	0.0002	0.000194	30	154602	rs61737874	0.0002	0.0002	0.0002	0.0002	0.0026	0.0002	0.0002	0.0016	0.0013	0.0002	0.0003	3.826e-05	2.519e-05	0	0.0026	0.0002	0.0005	0.0001	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	0.0002	0	0.0006	0	0	0	0.0034	0.0002	0.0005	0.0006	0.342	0.18889	T	0.478	0.11968	T	0.004	0.12183	B	0.005	0.11217	B	0.568857	0.05468	N	1.270200	1	0.08975	N	0.74	0.18910	N	3.38	0.05778	T	-0.76	0.27259	N	0.099	0.08088	-0.9267	0.44616	T	0.011	0.04181	T	10	0.01861149	0.00406	T	0.007366	0.19550	T	0.063	0.18251	0.494	0.58206	0.0138822411134	0.00435	0.19700788196174335	0.19617	0.209817070795	0.23452	0.212290734053	0.00912	T	0.003896	0.03302	T	-0.483775	0.00703	T	-0.600621	0.12759	T	0.0127294893884048	0.00215	T	0.466053	0.13673	T	0.02291079	0.00988	0.027614659	0.00927	0.02291079	0.00988	0.027614659	0.00927	-4.998	0.36819	T	.	.	0.068	0.09917	B	.;.	.;.	0.040624	0.04569	1.252	0.90362818841768	0.19626	0.00894	0.03512	N	AEFDGBI	0.040279	0.05968	N	-1.76267070329961	0.00643	0.02773723	-1.80692663087135	0.00737	0.03286027	0.639634266966967	0.22041	0.497415	0.19182	0	0.547309	0.14657	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.37	-5.93	0.02067	-0.513000	0.06389	-0.140000	0.11527	-1.608000	0.00884	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6217:0.1123:0.2661:0.0	8.505	0.32342	59	0.97452	Lipid-binding serum glycoprotein, N-terminal;Lipid-binding serum glycoprotein, N-terminal|Lipid-binding serum glycoprotein, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1116.98	35	chr20	33291016	.	G	A	1116.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.49;DP=798;ExcessHet=0.0000;FS=2.385;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.39;ReadPosRankSum=0.467;SOR=0.474	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1412	20	0	1	0
chr20	33291957	33291957	T	C	exonic	BPIFB1	.	nonsynonymous SNV	BPIFB1:NM_033197:exon6:c.T566C:p.V189A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.896	P	0.334	B	0.190	N	1.000	N	2.015	M	3.48	T	-0.914	T	0.021	T	0.119	1.932	12.42	-1.16	-0.123	-0.242	8.994	0.091	0.00332675331765	.	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs774623906	2.736e-06	2.736e-06	0	5.5e-06	0.0002	6.4e-07	4.3e-07	3e-07	1.1e-07	2.987e-05	0	0	0	0	0.0002	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.12511	T	0.048	0.48594	D	0.896	0.49324	P	0.334	0.42203	B	0.190026	0.03243	N	1.590230	1	0.08975	N	1.975	0.53506	M	3.48	0.05130	T	-0.87	0.23590	N	0.061	0.03283	-0.9138	0.46377	T	0.021	0.08870	T	10	0.10737389	0.19942	T	0.003327	0.07421	T	0.091	0.26358	0.389	0.41115	0.0611884634855	0.05136	0.18053019198777528	0.17972	0.208046391582	0.23274	0.306358397007	0.11357	T	0.002039	0.01452	T	-0.337472	0.05565	T	-0.707046	0.05449	T	0.12225300811425	0.14648	T	0.416558	0.10945	T	0.040547613	0.05807	0.047978193	0.07030	0.040547613	0.05807	0.047978193	0.07030	-4.011	0.23968	T	.	.	0.202	0.42635	B	.	.	0.559293	0.09281	6.060	0.67045943935130536	0.08238	0.02896	0.07687	N	ALL	0.031245	0.03299	N	-0.843012115470879	0.12221	0.5944535	-1.0079058785309	0.09610	0.4791402	0.999566955367009	0.40425	0.520426	0.21595	0	0.596394	0.48810	0	0.440839	0.06518	1	0.636	0.56748	0	.	.	5.07	-1.16	0.09181	-0.234000	0.09044	0.041000	0.13868	-0.707000	0.03972	0.019000	0.19563	0.000000	0.08366	0.006000	0.07323	0.0:0.4257:0.0:0.5743	8.994	0.35201	59	0.97452	Lipid-binding serum glycoprotein, N-terminal|Lipid-binding serum glycoprotein, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	986.98	33	chr20	33291957	.	T	C	986.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.000e-01;DP=775;ExcessHet=0.0000;FS=1.593;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.77;ReadPosRankSum=0.010;SOR=0.542	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1190	20	0	1	0
chr20	33297534	33297534	G	A	exonic	BPIFB1	.	nonsynonymous SNV	BPIFB1:NM_033197:exon7:c.G607A:p.V203M,	.	.	419	1101	1	1	0	3	0.00136054	.	.	2335686	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.2	T	1.0	D	0.995	D	0.001	N	0.998	N	2.175	M	3.27	T	-1.092	T	0.048	T	0.358	3.277	17.00	1.89	0.330	0.468	4.893	0.123	0.00839936862669	7.7e-05	0.000199681	0.0002	0	0.0003	0	0	0.0002	0.0033	6.056e-05	0.0001682	26	154602	rs45473499	0.0002	0.0002	0.0002	0.0002	0.0028	0.0002	0.0002	0.0017	0.0014	0.0001	0.0003	3.826e-05	0	0	0.0028	0.0002	0.0005	0.0001	0.0002	0.0002	0.0002	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	0.0002	0	0.0006	0	0.0004	0	0.0034	0.0002	0.0005	0	0.032	0.44694	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.000740	0.42129	N	0.105378	0.997803	0.22499	N	2.57	0.75187	M	3.27	0.06602	T	-1.03	0.27052	N	0.303	0.34228	-1.0923	0.05159	T	0.048	0.20553	T	10	0.129749	0.24689	T	0.008399	0.22231	T	0.123	0.34020	.	.	0.246215685461	0.24236	0.19985060906393515	0.19902	0.411433108143	0.41895	0.430411934853	0.29265	T	0.057135	0.30481	T	-0.404768	0.02154	T	-0.497232	0.22634	T	0.101768522818546	0.12551	T	0.70483	0.31518	T	0.038501438	0.05140	0.06926973	0.14574	0.038501438	0.05140	0.06926973	0.14574	-4.238	0.27298	T	.	.	0.154	0.33981	B	.	.	3.246139	0.44328	21.9	0.9979344804690754	0.87928	0.13129	0.17679	N	AEFBI	0.068951	0.13625	N	-0.0407135230320952	0.40019	2.369496	-0.236006413773942	0.30257	1.702009	0.194515039969476	0.18042	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.92	1.89	0.24700	0.484000	0.22017	2.833000	0.35033	0.676000	0.76740	0.293000	0.25261	0.999000	0.35428	0.057000	0.15750	0.1832:0.0:0.6471:0.1697	4.893	0.13093	54	0.97570	Lipid-binding serum glycoprotein, N-terminal|Lipid-binding serum glycoprotein, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1070.98	34	chr20	33297534	.	G	A	1070.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.089;DP=803;ExcessHet=0.0000;FS=0.712;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.10;ReadPosRankSum=-3.500e-02;SOR=0.770	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1342	20	0	1	0
chr20	33408583	33408583	G	A	exonic	SNTA1	.	nonsynonymous SNV	SNTA1:NM_003098:exon8:c.C1442T:p.S481L,	Long QT syndrome 12, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	186287	Long_QT_syndrome_12|not_specified|Long_QT_syndrome|Cardiovascular_phenotype	MONDO:MONDO:0013062,MedGen:C2751830,OMIM:612955,Orphanet:101016,Orphanet:768|MedGen:CN169374|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.869	P	0.000	D	0.998	D	2.095	M	-1.87	D	0.536	D	0.698	D	0.451	4.150	21.4	4.73	2.167	2.762	17.329	0.540	0.0799196299761	7.7e-05	.	2.472e-05	0	0	0	0	4.497e-05	0	0	4.53e-05	7	154602	rs370531842	0.0001	0.0001	0.0001	9.626e-05	0.0001	9.873e-05	9.282e-05	0.0001	0.0001	5.974e-05	4.472e-05	0	0	0	0	0.0001	6.623e-05	1.159e-05	6.571e-05	6.567e-05	8.991e-05	4.036e-05	9.65e-05	3.517e-05	2.616e-05	3.249e-05	1.914e-05	9.65e-05	0	6.547e-05	0	0	0	0	7.349e-05	0	0	0.013	0.53900	D	0.022	0.57587	D	1.0	0.90584	D	0.869	0.61749	P	0.000247	0.46924	D	0.146305	0.998337	0.44783	D	2.295	0.65404	M	-1.87	0.84415	D	-3.68	0.70314	D	0.667	0.67564	0.536	0.91043	D	0.698	0.89580	D	10	0.7927327	0.78802	D	0.07992	0.73344	D	0.540	0.80782	.	.	0.890496652	0.88941	0.5688575547055033	0.56813	0.25362918265	0.27937	0.667308151722	0.62455	T	0.596364	0.86999	D	-0.0465216	0.44972	T	-0.112919	0.62379	T	0.70851081609726	0.41127	D	0.981402	0.93712	D	0.3632441	0.58081	0.28907537	0.54926	0.3632441	0.58082	0.28907537	0.54925	-13.704	0.92055	D	0.4828639369564208	0.56120	0.314	0.54034	B	.	.	4.979936	0.82485	27.8	0.9988702502107828	0.96204	0.97592	0.75763	D	AEFDBI	0.636284	0.61549	D	0.509760599934278	0.67666	5.11205	0.493725477028733	0.67573	5.102191	0.999652428613431	0.41424	0.706298	0.61202	0	0.688494	0.66719	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.73	4.73	0.59485	3.489000	0.53000	10.004000	0.83058	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.329	0.87144	63	0.97314	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	848.98	33	chr20	33408583	.	G	A	848.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.088;DP=756;ExcessHet=0.0000;FS=3.237;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=-5.080e-01;SOR=0.405	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1181	20	0	1	0
chr20	33623168	33623168	G	C	exonic	CBFA2T2	.	nonsynonymous SNV	CBFA2T2:NM_001032999:exon5:c.G564C:p.K188N	.	.	429	1092	1	0	0	1	0.000457666	.	.	2424789	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	0.999	D	0.998	D	0.000	D	1.000	D	1.1	L	0.91	T	-0.889	T	0.173	T	0.381	3.890	19.78	5.07	1.541	5.771	12.024	0.340	0.021924474261	.	0.000199681	7.444e-05	0	8.657e-05	0	0	0.0001	0	6.069e-05	6.47e-05	10	154602	rs199515579	9.166e-05	9.235e-05	0.0001	7.7e-05	0.0010	7.89e-05	7.365e-05	0.0005	0.0003	5.974e-05	0.0004	3.826e-05	0	0	0.0010	8.363e-05	0.0002	1.159e-05	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0008	0.0007	4.81e-05	0	0.0012	0	0	0	0	8.819e-05	0.0009	0	0.135	0.26192	T	0.124	0.48855	T	0.999	0.77913	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.005	0.25186	L	0.91	0.44856	T	-3.96	0.75220	D	0.727	0.77319	-0.8892	0.49004	T	0.173	0.51564	T	10	0.35582048	0.52335	T	0.021924	0.44763	T	0.340	0.66202	0.488	0.57257	0.371383927776	0.36753	0.7898378606664911	0.78935	1.68142980145	0.89980	0.866515755653	0.92066	D	0.465283	0.80049	T	-0.302557	0.08420	T	-0.374819	0.36327	T	0.482089936733246	0.31974	T	0.973503	0.90460	D	0.6605041	0.75926	0.4245349	0.66290	0.6605041	0.75927	0.4245349	0.66290	-8.045	0.63438	D	.	.	0.924	0.89856	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.199297	0.63353	24.6	0.99813471185222025	0.89708	0.98594	0.84485	D	AEFDGBI	0.738288	0.68321	D	0.569910558398221	0.71303	5.630344	0.592762004432859	0.74417	6.133958	0.880836321654349	0.25617	0.758104	0.99027	0	0.653731	0.59785	0	0.691618	0.62860	0	0.635551	0.53088	0	.	.	6.02	5.07	0.68106	5.022000	0.63850	3.499000	0.38765	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1375:0.0:0.8625:0.0	12.024	0.52654	94	0.96106	.;TAFH/NHR1|TAFH/NHR1|TAFH/NHR1;.;TAFH/NHR1|TAFH/NHR1|TAFH/NHR1;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1607.98	35	chr20	33623168	.	G	C	1607.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.435e+00;DP=828;ExcessHet=0.0000;FS=0.610;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.86;ReadPosRankSum=0.987;SOR=0.638	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1355	20	0	1	0
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.000	D	1.000	D	1.935	M	1.98	T	-1.040	T	0.128	T	0.791	4.250	22.1	6.17	2.941	5.778	13.996	0.296	0.0112495980913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	6.02e-05	1.362e-06	5.502e-06	2.988e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	2.988e-05	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.012	0.63918	D	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999841	0.49770	D	2.215	0.62545	M	1.98	0.21865	T	-1.73	0.41046	N	0.499	0.53181	-1.0404	0.17192	T	0.128	0.43585	T	10	0.5826987	0.65938	D	0.01125	0.28682	T	0.296	0.61616	0.689	0.82653	0.228066490088	0.22430	0.82941257752094	0.82899	0.68760950996	0.60391	0.738000631332	0.72679	T	0.103498	0.41220	T	0.0708259	0.60949	D	-0.13604	0.60460	T	0.885277701002196	0.53559	D	0.910309	0.68205	D	0.41792053	0.61953	0.41181666	0.65402	0.41792053	0.61953	0.41181666	0.65402	-4.579	0.31907	T	.	.	0.782	0.76474	P	.	.	5.638633	0.92727	33	0.99733629509333355	0.82975	0.97405	0.74540	D	AEFDBI	0.720442	0.67100	D	0.820974805350757	0.87399	9.204616	0.835720227276759	0.92153	11.26631	0.92021159446374	0.26625	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.488000	0.60028	9.966000	0.82830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0685:0.0:0.9315:0.0	13.996	0.63912	522	0.74218	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4524	4553.08	146	chr20	34852409	.	G	C	4553.08	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-3.218e+00;DP=3222;ExcessHet=36.0830;FS=276.126;InbreedingCoeff=-0.8285;MLEAC=19;MLEAF=0.452;MQ=60.00;MQRankSum=0.00;QD=1.76;ReadPosRankSum=0.755;SOR=12.688	GT:AD:DP:GQ:PL	0/1:99,67:175:99:460,0,1614	2	0	19	0
chr20	35000390	35000390	G	A	exonic	MYH7B	.	nonsynonymous SNV	MYH7B:NM_020884:exon39:c.G5005A:p.G1669S,	.	.	416	1055	48	3	0	54	0.0249538	.	.	728613	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.1	T	0.103	B	0.132	B	0.038	N	0.982	D	1.305	L	-1.7	D	-0.207	T	0.448	T	0.422	2.982	15.94	4.07	2.272	5.376	16.863	0.392	.	0.0027	0.00439297	0.0051	0.0004	0.0023	0	0	0.0036	0.0129	0.0193	0.0044954	695	154602	rs201963394	0.0038	0.0038	0.0032	0.0044	0.0190	0.0037	0.0037	0.0183	0.0179	0.0006	0.0023	0.0005	2.519e-05	0.0002	0.0181	0.0030	0.0043	0.0190	0.0030	0.0030	0.0028	0.0033	0.0151	0.0028	0.0027	0.0124	0.0113	0.0005	0	0.0061	0.0006	0	0	0.0170	0.0036	0.0118	0.0151	0.035	0.43708	D	0.365	0.16717	T	.	.	.	.	.	.	0.038163	0.24316	N	0.205114	0.982128	0.39855	D	.	.	.	-1.7	0.83072	D	-3.35	0.66436	D	0.424	0.46368	-0.2066	0.77501	T	0.448	0.78348	T	10	0.012250483	0.00264	T	.	.	.	0.392	0.70764	.	.	0.624326400291	0.62126	0.25789666232263975	0.25703	0.175981301143	0.19813	0.720171570778	0.70071	T	.	.	.	-0.289717	0.09663	T	-0.17334	0.57136	T	0.0316961208468174	0.02257	T	0.927707	0.73352	D	0.14921352	0.34028	0.30081695	0.56115	0.16378477	0.36542	0.36038232	0.61480	-4.789	0.34463	T	.	.	0.139	0.30608	B	.;.	.;.	4.044325	0.59904	24.2	0.99355405892283677	0.60779	0.92154	0.55065	D	AEFDBHCI	0.773292	0.70735	D	0.0254915060892776	0.43015	2.602944	0.145682470713919	0.46915	2.929722	0.941430718863094	0.27477	0.580535	0.33130	0	0.379588	0.06130	0	0.576033	0.28219	0	0.711	0.71501	0	.	.	4.07	4.07	0.46726	4.877000	0.62779	11.887000	0.98989	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.0:1.0:0.0	16.863	0.85889	614	0.66605	Myosin tail;Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1985.98	35	chr20	35000390	.	G	A	1985.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.51;DP=881;ExcessHet=0.0000;FS=2.019;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=-7.450e-01;SOR=0.510	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1234	20	0	1	0
chr20	35044539	35044539	C	G	exonic	TRPC4AP	.	nonsynonymous SNV	TRPC4AP:NM_015638:exon7:c.G831C:p.L277F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.855	P	0.271	B	0.006	N	1.000	D	0	N	.	.	-1.079	T	0.059	T	0.164	2.561	14.52	3.75	1.438	0.769	8.098	0.053	0.00220256632883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.40068	D	0.155	0.31936	T	0.855	0.47121	P	0.271	0.39904	B	0.005614	0.32654	N	0.288169	0.910872	0.36408	D	1.245	0.31408	L	.	.	.	-0.26	0.11185	N	0.367	0.40864	-1.0792	0.07504	T	0.059	0.24612	T	9	0.11071941	0.20704	T	0.002203	0.04151	T	0.053	0.14996	0.129	0.03412	0.0675242888579	0.06100	0.1543754583860959	0.15358	0.578774077322	0.53773	0.602287828922	0.53227	T	0.029251	0.21004	T	-0.11276	0.34315	T	-0.399749	0.33415	T	0.497914224863052	0.32553	T	0.846915	0.52723	T	0.09514198	0.22385	0.0881565	0.20536	0.09514198	0.22385	0.0881565	0.20536	-4.655	0.33149	T	.	.	0.103	0.18247	B	.;.	.;.	3.287922	0.45079	22.1	0.99553085967798949	0.71273	0.90089	0.50997	D	AEFBI	0.166909	0.29354	N	-0.0571849634062739	0.39282	2.313983	0.0791077866325898	0.43499	2.650414	0.0107750004223221	0.12079	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.74	3.75	0.42236	0.982000	0.29137	3.972000	0.40833	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1299:0.734:0.0:0.136	8.098	0.30001	611	0.66908	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	481.98	33	chr20	35044539	.	C	G	481.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.79;DP=761;ExcessHet=0.0000;FS=3.652;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.53;ReadPosRankSum=0.785;SOR=1.197	GT:AD:DP:GQ:PL	0/1:42,22:64:99:496,0,991	20	0	1	0
chr20	35287226	35287226	C	T	exonic	FAM83C	.	nonsynonymous SNV	FAM83C:NM_178468:exon4:c.G1553A:p.R518Q,	.	.	423	1098	1	0	0	1	0.000455166	.	.	2244221	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.34	T	0.01	B	0.004	B	.	.	1.000	N	0.415	N	3.09	T	-0.952	T	0.013	T	0.103	1.400	10.62	2.03	1.096	0.023	4.913	0.025	0.00529952250874	7.9e-05	.	2.573e-05	0	0	0	0	3.151e-05	0	6.115e-05	1.94e-05	3	154602	rs377103295	1.78e-05	1.779e-05	1.09e-05	2.478e-05	0.0001	1.239e-05	1.052e-05	5.396e-05	4.042e-05	0	0	0	0	3.845e-05	0	8.993e-06	8.281e-05	0.0001	6.57e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.168	0.23007	T	0.506	0.10967	T	0.01	0.15535	B	0.004	0.10090	B	.	.	.	.	0.999999	0.08975	N	1.525	0.38595	L	3.09	0.08371	T	-0.11	0.08653	N	0.099	0.08088	-0.9523	0.40573	T	0.013	0.04890	T	9	0.045508504	0.03629	T	0.005	0.13556	T	0.025	0.05312	.	.	0.26547132957	0.26150	0.052633114055315434	0.05205	0.216455355565	0.24166	0.238932430744	0.02695	T	0.00542	0.04871	T	-0.465013	0.00914	T	-0.702135	0.05709	T	0.284556269645691	0.24363	T	0.738826	0.35731	T	0.051142346	0.09347	0.050932363	0.08096	0.051142346	0.09347	0.050932363	0.08095	-3.036	0.10574	T	.	.	0.083	0.09143	B	.	.	1.833906	0.23302	15.96	0.99583966469821317	0.73159	0.25210	0.22630	N	AEFBI	0.072276	0.14419	N	-0.518301878144587	0.21487	1.140746	-0.383791490417391	0.25480	1.401491	0.999610977148563	0.40981	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.14	2.03	0.25714	0.591000	0.23670	-0.775000	0.07479	0.599000	0.40250	0.733000	0.28953	0.000000	0.08366	0.961000	0.51904	0.0:0.6599:0.2208:0.1194	4.913	0.13185	412	0.82007	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1351.98	37	chr20	35287226	.	C	T	1351.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.99;DP=874;ExcessHet=0.0000;FS=1.629;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=-7.100e-01;SOR=0.943	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1162	20	0	1	0
chr20	35466182	35466182	G	A	exonic	CEP250	.	nonsynonymous SNV	CEP250:NM_007186:exon7:c.G470A:p.S157N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.992	D	0.948	D	0.000	N	0.814	N	1.825	L	2.89	T	-0.757	T	0.292	T	0.143	3.140	16.50	5.39	2.503	3.541	16.930	0.169	0.0195907131719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.91e-07	6.842e-07	1.373e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.672e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.65419	D	0.01	0.72224	D	0.992	0.64738	D	0.948	0.68536	D	0.000307	0.00561	N	3.758110	0.813624	0.28970	N	1.995	0.54099	M	2.85	0.45248	T	-2.39	0.53258	N	0.511	0.54234	-0.7573	0.57551	T	0.292	0.66412	T	10	0.2783443	0.45404	T	0.019591	0.41992	T	0.169	0.43123	0.193	0.10437	0.567064501529	0.56369	0.22593691439536634	0.22508	0.599782747456	0.55084	0.560197114944	0.47296	T	0.036943	0.32516	T	-0.179838	0.23760	T	-0.496102	0.22753	T	0.825030370843214	0.48148	D	0.846915	0.53996	T	0.25235692	0.48250	0.25757244	0.51476	0.25235692	0.48250	0.25757244	0.51476	-3.977	0.23458	T	.	.	0.117	0.38190	B	.;.;.;.	.;.;.;.	3.983217	0.58568	24.0	0.99526756370572023	0.69591	0.82463	0.41687	D	AEFDBHCIJ	0.307806	0.41457	N	0.668227390081113	0.77553	6.696854	0.659302106035942	0.79307	7.054434	0.999998318439002	0.74766	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	2.827000	0.47813	9.971000	0.82862	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.930	0.86057	516	0.74704	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	51.05	81	chr20	35466182	.	G	A	51.05	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-2.165e+00;DP=1560;ExcessHet=0.0000;FS=43.008;InbreedingCoeff=-0.0926;MLEAC=1;MLEAF=0.031;MQ=60.00;MQRankSum=0.00;QD=0.55;ReadPosRankSum=0.644;SOR=5.784	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:63,0:63:0:.:.:0,0,975	15	0	1	5
chr20	35529186	35529186	C	T	exonic	C20orf173	.	nonsynonymous SNV	C20orf173:NM_001145350:exon2:c.G188A:p.C63Y,	.	.	424	1092	6	0	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.021	B	0.008	B	0.909	N	1.000	N	0.805	L	0.83	T	-1.033	T	0.052	T	0.123	2.124	13.06	-2.99	-0.431	-0.863	5.565	0.060	.	.	0.00179712	0.0005	0	0.0024	0.0109	0	0	0	0.0003	0.0001876	29	154602	rs148026936	0.0007	0.0006	0.0006	0.0007	0.0221	0.0006	0.0006	0.0208	0.0203	0	2.801e-05	0	0.0221	0	0.0005	5.283e-05	0.0006	0.0005	0.0006	0.0006	0.0005	0.0006	0.0137	0.0005	0.0004	0.0111	0.0102	0	0	0.0002	0	0.0137	0	0	0.0001	0	0.0008	0.433	0.11298	T	1.0	0.01155	T	.	.	.	.	.	.	0.908610	0.08569	N	0.951236	1	0.08975	N	.	.	.	0.83	0.47815	T	-4.85	0.81107	D	0.129	0.12341	-1.0334	0.19363	T	0.052	0.21960	T	10	0.005721748	0.00127	T	.	.	.	0.060	0.17295	.	.	0.246773566709	0.24272	0.8124220679945928	0.81198	.	.	.	.	.	.	.	.	-0.639316	0.00084	T	-0.685701	0.06641	T	0.0244201124638839	0.01198	T	0.372463	0.08834	T	.	.	.	.	.	.	.	.	-4.894	0.35667	T	.	.	0.153	0.33846	B	.;.	.;.	-0.403761	0.02198	0.219	0.86052075384027837	0.16282	0.00372	0.01892	N	AEFGI	0.019594	0.00694	N	-1.16935543704458	0.05469	0.2493872	-1.19759994935082	0.05949	0.2849701	7.29202047009072E-4	0.07704	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.48	-2.99	0.05164	-0.863000	0.04367	-0.143000	0.11497	-0.173000	0.11020	0.000000	0.06391	0.000000	0.08366	0.956000	0.50813	0.0:0.3614:0.1692:0.4694	5.565	0.16449	491	0.76657	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2297.98	164	chr20	35529186	.	C	T	2297.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.448;DP=908;ExcessHet=0.0000;FS=3.727;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.01;ReadPosRankSum=-1.248e+00;SOR=1.023	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1208	20	0	1	0
chr20	35652830	35652830	-	GGGCCG	exonic	RBM12	.	nonframeshift insertion	RBM12:NM_001198840:exon2:c.2492_2493insCGGCCC:p.P837_I838insGP	.	.	317	1072	122	8	3	141	0.0604733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4619.11	33	chr20	35652818	.	AGGGCCGGGGCCG	AGGGCCGGGGCCGGGGCCG,A	4619.11	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=1.02;DP=856;ExcessHet=0.0082;FS=5.219;InbreedingCoeff=0.4474;MLEAC=3,1;MLEAF=0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=27.83;ReadPosRankSum=2.37;SOR=0.690	GT:AD:DP:GQ:PL	0/0:34,0,0:34:99:0,99,1100,99,1100,1100	18	0	2	0
chr20	35652819	35652830	GGGCCGGGGCCG	-	exonic	RBM12	.	nonframeshift deletion	RBM12:NM_001198840:exon2:c.2493_2504del:p.G834_P837del	.	.	317	1072	122	8	3	141	0.0604733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	.	0.0003	0	0	0.0001	0	0.0002	0.0012	0.0009	0.0002005	31	154602	rs746941434	0.0003	0.0003	0.0003	0.0003	0.0014	0.0003	0.0003	0.0007	0.0005	0.0003	0.0005	7.991e-05	0.0002	0	0.0014	0.0003	0.0003	0.0007	0.0003	0.0003	0.0002	0.0003	0.0009	0.0002	0.0002	0.0005	0.0004	0.0001	0	0.0009	0	0.0004	0	0	0.0003	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4619.11	33	chr20	35652818	.	AGGGCCGGGGCCG	AGGGCCGGGGCCGGGGCCG,A	4619.11	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=1.02;DP=856;ExcessHet=0.0082;FS=5.219;InbreedingCoeff=0.4474;MLEAC=3,1;MLEAF=0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=27.83;ReadPosRankSum=2.37;SOR=0.690	GT:AD:DP:GQ:PL	0/0:34,0,0:34:99:0,99,1100,99,1100,1100	18	0	2	0
chr20	35653998	35653998	T	A	exonic	RBM12	.	nonsynonymous SNV	RBM12:NM_001198840:exon2:c.A1325T:p.E442V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.989	D	0.938	D	0.000	D	1.000	D	0.835	L	3.15	T	-1.111	T	0.039	T	0.761	2.816	15.38	4.77	2.019	5.681	14.545	0.236	0.0148505589449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.011	0.64786	D	0.989	0.62824	D	0.938	0.67350	D	0.000012	0.62929	D	0.066521	1	0.81001	D	0.895	0.22405	L	3.15	0.07820	T	-4.18	0.75537	D	0.248	0.28849	-1.1105	0.03027	T	0.039	0.16806	T	10	0.3697551	0.53383	T	0.014851	0.35231	T	0.236	0.53931	0.472	0.54699	0.442466506703	0.43865	0.7138423932096902	0.71327	0.790096734141	0.65732	0.802283644676	0.82311	T	0.25796	0.62906	T	0.0282349	0.55487	T	-0.197219	0.54910	T	0.985107243061066	0.76198	D	0.785321	0.42297	T	0.36104435	0.57916	0.33053842	0.58922	0.36104435	0.57916	0.33053842	0.58921	-6.086	0.46993	T	.	.	0.939	0.85870	P	.;.;.	.;.;.	3.767169	0.54085	23.4	0.98917238453443146	0.48491	0.90931	0.52533	D	AEFDBHCI	.	.	.	0.48869346107583	0.66428	4.948901	0.505200052899933	0.68340	5.206531	0.999999999992426	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.77	4.77	0.60425	5.852000	0.69220	7.933000	0.75122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	14.545	0.67612	359	0.84979	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RBM12, RNA recognition motif 3;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RBM12, RNA recognition motif 3;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RBM12, RNA recognition motif 3	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2939.98	33	chr20	35653998	.	T	A	2939.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.542e+00;DP=947;ExcessHet=0.0000;FS=4.689;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=0.824;SOR=1.013	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1100	20	0	1	0
chr20	36030643	36030643	G	A	exonic	CNBD2	.	nonsynonymous SNV	CNBD2:NM_001365709:exon12:c.G1726A:p.A576T	.	.	433	1087	2	0	0	2	0.000919118	.	.	2347587	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.007	B	0.076	B	0.017	N	1.000	D	0	N	2.6	T	-1.045	T	0.022	T	0.113	2.202	13.32	4.39	1.394	2.139	12.401	0.064	0.0139124974066	0.0003	.	0.0002	9.701e-05	0	0	0	0.0003	0	0	0.0001423	22	154602	rs145803772	0.0002	0.0002	0.0002	0.0002	0.0017	0.0001	0.0001	0.0009	0.0007	0	0	0	0	0	0.0017	0.0002	0.0002	9.275e-05	0.0002	0.0002	0.0003	0.0002	0.0005	0.0002	0.0001	0.0003	0.0003	0	0	0	0	0	0	0	0.0005	0	0.0002	0.0	0.91255	D	.	.	.	0.007	0.14184	B	0.076	0.28435	B	0.016927	0.27850	N	0.263843	1	0.81001	D	0	0.06538	N	2.6	0.13204	T	-0.31	0.12099	N	0.154	0.15888	-1.0451	0.15796	T	0.022	0.09513	T	10	0.05229935	0.05242	T	0.013912	0.33663	T	0.064	0.18567	.	.	0.0954503805726	0.09146	0.24116309275730896	0.24030	0.111187110948	0.12544	0.419134914875	0.27718	T	2.9E-4	0.00073	T	-0.486029	0.00683	T	-0.617851	0.11353	T	0.0675154274079893	0.08298	T	0.360464	0.08297	T	0.136664	0.31672	0.17204963	0.39431	0.136664	0.31672	0.17204963	0.39430	-3.081	0.11319	T	.	.	0.139	0.32128	B	.;.	.;.	3.033655	0.40645	21.2	0.97337625515978732	0.33457	0.54122	0.29538	D	AEFBI	0.183234	0.31057	N	-0.516565774373597	0.21544	1.14414	-0.346055362840555	0.26631	1.472251	0.00100890369641989	0.08115	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.33	4.39	0.52211	2.162000	0.41994	5.685000	0.49312	-0.172000	0.11096	1.000000	0.71638	1.000000	0.68203	0.354000	0.25750	0.0:0.8286:0.1714:0.0	12.401	0.54745	687	0.59234	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1551.98	34	chr20	36030643	.	G	A	1551.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.655e+00;DP=845;ExcessHet=0.0000;FS=1.463;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=-1.200e-02;SOR=0.542	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr20	36194223	36194223	C	T	exonic	EPB41L1	.	nonsynonymous SNV	EPB41L1:NM_001258331:exon12:c.C1126T:p.R376C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.931	D	0.123	N	1.000	D	0.805	L	-1.81	D	0.305	D	0.618	D	0.58	4.737	26.4	5.21	2.428	4.470	17.755	0.406	0.105834035604	.	.	0.0001	9.684e-05	0	0	0	1.504e-05	0	0.0009	0.00011	17	154602	rs766032605	4.926e-05	4.925e-05	2.995e-05	6.877e-05	0.0006	3.993e-05	3.67e-05	0.0005	0.0004	0	2.236e-05	0	7.557e-05	0	0	8.993e-06	6.627e-05	0.0006	1.314e-05	1.313e-05	2.569e-05	0	6.543e-05	2.18e-06	8.2e-07	.	.	0	0	6.543e-05	0	0	0	0	1.47e-05	0	0	0.018	0.58626	D	0.05	0.66756	T	0.998	0.90584	D	0.921	0.66596	D	0.122648	0.18947	N	0.578888	0.999999	0.58761	D	0.975	0.24501	L	-1.89	0.84557	D	-2.02	0.53420	N	0.391	0.48872	0.305	0.87637	D	0.618	0.86518	D	10	0.147625	0.27970	T	0.105834	0.78115	D	0.406	0.71869	0.225	0.14960	0.75793295755	0.75573	0.7229505416326878	0.72239	0.933430420424	0.71932	0.813415586948	0.84017	D	0.472379	0.80468	T	-0.163062	0.26291	T	-0.0887872	0.64253	T	0.859971404075623	0.51049	D	0.949405	0.81930	D	0.13757764	0.31850	0.11401464	0.27520	0.14573051	0.33392	0.11292068	0.27248	-12.796	0.88505	D	0.7314650048341449	0.81315	0.281	0.69304	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.293821	0.88880	29.8	0.9994206105747111	0.99824	0.96196	0.67976	D	AEFDGBI	0.839632	0.75702	D	0.424096095884602	0.62749	4.496162	0.48646742124173	0.67094	5.038052	0.999998087680509	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.755437	0.99637	0	.	.	5.21	5.21	0.72005	4.540000	0.60375	7.672000	0.64834	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	17.755	0.88356	695	0.58372	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1634.98	35	chr20	36194223	.	C	T	1634.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.400e-02;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=0.659;SOR=0.658	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1343	20	0	1	0
chr20	36198013	36198013	C	G	exonic	EPB41L1	.	nonsynonymous SNV	EPB41L1:NM_001258331:exon13:c.C1418G:p.P473R	.	.	3	1492	25	2	0	29	0.00962496	.	.	134443	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.47	T	0.995	D	0.944	D	0.000	N	1.000	D	0.895	L	-1.76	D	-0.070	T	0.516	D	0.486	2.498	14.31	5.15	2.404	7.133	17.620	0.164	.	0.0062	0.00599042	0.0083	0.0021	0.0026	0	0.0050	0.0092	0.0023	0.0179	0.0077231	1194	154602	rs6089016	0.0070	0.0070	0.0067	0.0073	0.0170	0.0069	0.0068	0.0162	0.0160	0.0011	0.0025	0.0053	2.519e-05	0.0059	0.0080	0.0069	0.0062	0.0170	0.0052	0.0052	0.0053	0.0049	0.0164	0.0049	0.0047	0.0135	0.0124	0.0014	0	0.0050	0.0052	0	0.0048	0.0034	0.0071	0.0076	0.0164	0.018	0.61437	D	0.03	0.54159	D	0.009	0.67487	B	0.008	0.68059	B	0.000049	0.53742	N	0.193004	0.999995	0.58761	D	0.695	0.17993	N	-1.95	0.85613	D	-2.3	0.58407	N	0.468	0.65501	-0.0703	0.80774	T	0.516	0.81898	D	10	0.005582273	0.00123	T	.	.	.	0.414	0.72479	.	.	0.577202177789	0.57390	0.41474725758799835	0.41390	0.826141838325	0.67412	0.681493759155	0.64483	T	0.468462	0.80238	T	-0.229641	0.16695	T	-0.0883602	0.64286	T	0.0296726304998751	0.01939	T	0.961004	0.88660	D	0.15671715	0.35351	0.13630909	0.32611	0.16008583	0.35926	0.175177	0.39965	-9.304	0.73244	D	0.2840188812731129	0.37976	0.389	0.62801	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.910477	0.57021	23.8	0.99599050687473634	0.74101	0.99295	0.94095	D	AEFDBI	0.928332	0.91238	D	0.0591614778270958	0.44565	2.72824	0.155281261005179	0.47422	2.972692	0.999974069287737	0.50053	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.15	5.15	0.70287	7.426000	0.79456	7.668000	0.64620	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.361000	0.25909	0.0:1.0:0.0:0.0	17.620	0.87979	715	0.56137	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	8720.08	36	chr20	36198013	.	C	G	8720.08	.	AC=2;AF=0.048;AN=42;DP=1044;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.97;SOR=0.895	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	1	0	0
chr20	36432450	36432450	G	A	exonic	DLGAP4	.	nonsynonymous SNV	DLGAP4:NM_001365621:exon3:c.G733A:p.A245T	.	.	432	1080	10	0	0	10	0.00460829	.	.	716943	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.07	T	0.975	D	0.242	B	0.000	D	1.000	D	1.005	L	1.96	T	-1.107	T	0.041	T	0.387	3.736	18.97	5.24	2.438	9.469	17.806	0.226	.	0.0012	0.00459265	0.0034	0.0001	0.0008	0	0.0002	0.0011	0	0.0198	0.0029754	460	154602	rs146757517	0.0022	0.0022	0.0016	0.0027	0.0203	0.0021	0.0021	0.0195	0.0192	0.0002	0.0008	0.0021	0	0.0003	0.0019	0.0010	0.0025	0.0203	0.0014	0.0014	0.0012	0.0017	0.0188	0.0013	0.0012	0.0157	0.0146	0.0002	0	0.0018	0.0035	0	0.0002	0	0.0011	0.0005	0.0188	0.012	0.56456	D	0.039	0.51112	D	0.975	0.58077	D	0.242	0.38699	B	0.000003	0.62929	D	0.057463	0.99828	0.44722	D	1.61	0.41143	L	1.96	0.22270	T	-1.81	0.42575	N	0.559	0.58373	-1.1068	0.03359	T	0.041	0.17742	T	10	0.009884894	0.00222	T	.	.	.	0.226	0.52472	.	.	0.266724437049	0.26276	0.3645978046822784	0.36373	0.916210507732	0.71246	0.605830073357	0.53727	T	0.051083	0.28780	T	-0.407215	0.02074	T	-0.342117	0.40105	T	0.0655071708820935	0.08005	T	0.882612	0.60317	D	0.19760294	0.41630	0.23671405	0.48950	0.19760294	0.41630	0.23671405	0.48949	-2.838	0.08538	T	.	.	0.110	0.26762	B	.;.;.;.	.;.;.;.	4.323203	0.66182	24.9	0.99890862013597903	0.96513	0.99349	0.94855	D	AEFDBI	0.902671	0.85084	D	0.469863862646862	0.65338	4.809991	0.561769344006739	0.72221	5.775576	0.999998249929805	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.24	5.24	0.72863	9.596000	0.97431	9.282000	0.79722	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.806	0.88512	590	0.68897	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4383.11	38	chr20	36432450	.	G	A	4383.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.320e-01;DP=1047;ExcessHet=0.1072;FS=1.223;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.91;ReadPosRankSum=-1.404e+00;SOR=0.627	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1283	19	0	2	0
chr20	36816248	36816248	C	T	exonic	SOGA1	.	nonsynonymous SNV	SOGA1:NM_080627:exon5:c.G1194A:p.M398I	.	.	428	1091	3	0	0	3	0.001373	.	.	2354747	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.995	D	0.995	D	0.000	D	1.000	D	2.085	M	2.02	T	-0.775	T	0.225	T	0.75	4.681	25.9	5.54	2.884	7.651	18.419	0.267	0.0172585906705	.	.	0.0002	0	0	0	0	6.077e-05	0	0.0011	0.0001294	20	154602	rs781677622	6.991e-05	7.114e-05	5.456e-05	8.542e-05	0.0012	5.858e-05	5.468e-05	0.0007	0.0006	0	0	0	0	0	0.0012	8.998e-06	0.0002	0.0009	2.634e-05	2.627e-05	0	5.393e-05	0.0006	8.15e-06	5.15e-06	0.0002	9.018e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.022	0.48642	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.080767	1	0.81001	D	.	.	.	1.97	0.22067	T	-3.77	0.72240	D	0.8	0.79599	-0.7746	0.56603	T	0.225	0.58957	T	10	0.2650839	0.44001	T	0.017259	0.38885	T	0.267	0.58126	0.28	0.23483	0.134007934775	0.12933	0.7030361936111599	0.70244	1.6732094712	0.89882	0.846959531307	0.89155	D	0.358627	0.72516	T	-0.186783	0.22731	T	-0.117782	0.61983	T	0.435702502727509	0.30271	T	0.950905	0.82144	D	.	.	.	.	.	.	.	.	-8.199	0.62419	D	.	.	0.990	0.93569	P	.;.	.;.	4.802523	0.78040	26.8	0.9976359786713408	0.85254	0.97221	0.73406	D	AEFDBCI	0.896894	0.83845	D	0.852610787670507	0.89258	9.897824	0.843850964114882	0.92653	11.551	0.999999999999997	0.74766	0.719381	0.83141	0	0.653731	0.59785	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	7.905000	0.86479	7.717000	0.67122	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	18.419	0.90527	783	0.47268	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1018.98	34	chr20	36816248	.	C	T	1018.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.165e+00;DP=800;ExcessHet=0.0000;FS=0.774;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.96;ReadPosRankSum=0.554;SOR=0.596	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1147	20	0	1	0
chr20	36829181	36829181	T	C	exonic	SOGA1	.	nonsynonymous SNV	SOGA1:NM_080627:exon3:c.A944G:p.K315R	.	.	422	1091	9	0	0	9	0.00410771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.856	P	0.774	P	0.000	D	1.000	D	0.55	N	2.24	T	-1.105	T	0.044	T	0.096	2.962	15.88	4.53	1.889	2.055	7.801	0.080	0.00633547319676	0.0005	.	0.0009	0.0002	0.0001	0	0	0.0014	0.0033	0.0009	0.0005692	88	154602	rs61729266	0.0005	0.0005	0.0004	0.0005	0.0029	0.0004	0.0004	0.0019	0.0015	2.99e-05	9.011e-05	0.0131	0	0	0.0029	0.0002	0.0012	0.0006	0.0005	0.0005	0.0004	0.0006	0.0010	0.0004	0.0004	0.0004	0.0003	4.812e-05	0	0	0.0130	0	0	0	0.0003	0.0005	0.0010	0.03	0.45393	D	0.035	0.52389	D	.	.	.	.	.	.	0.000089	0.51296	D	0.123888	0.989786	0.24254	N	.	.	.	2.24	0.18414	T	0.28	0.04233	N	0.197	0.21710	-1.1054	0.03497	T	0.044	0.18742	T	10	0.008246005	0.00187	T	0.006335	0.16639	T	0.080	0.23350	.	.	0.043077524339	0.03247	0.08768593272028911	0.08701	0.767873632347	0.64612	0.313371151686	0.12417	T	0.007267	0.06685	T	-0.503342	0.00547	T	-0.6224	0.10998	T	0.0500016242068254	0.05501	T	0.914809	0.84201	D	.	.	.	.	.	.	.	.	-4.559	0.31652	T	.	.	0.085	0.10400	B	.;.	.;.	3.655761	0.51903	23.2	0.99720943335864465	0.82054	0.90041	0.50913	D	AEFGBI	0.196492	0.32347	N	0.224647338575517	0.52397	3.41402	0.264335883384077	0.53470	3.515671	0.999782238829899	0.43007	0.719381	0.83141	0	0.519925	0.08708	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	4.53	4.53	0.55009	1.692000	0.37350	7.893000	0.73158	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0952:0.0:0.9048	7.801	0.28338	751	0.51694	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	861.98	34	chr20	36829181	.	T	C	861.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.880e-01;DP=774;ExcessHet=0.0000;FS=4.556;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.31;ReadPosRankSum=0.617;SOR=1.019	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1014	20	0	1	0
chr20	37007453	37007453	C	G	exonic	RBL1	.	nonsynonymous SNV	RBL1:NM_001323281:exon19:c.G1548C:p.K516N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.888	P	0.765	P	0.000	D	0.974	D	3.09	M	-3.12	D	0.840	D	0.839	D	0.305	3.628	18.46	3.32	1.470	0.392	9.678	0.645	0.0858146876721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	2.269e-05	7.792e-05	7.702e-05	3.801e-05	0	0.0003	0.0002	7.038e-05	6.586e-06	6.573e-06	1.287e-05	0	.	0	0	.	.	0	0	0	0	0	9.495e-05	0	0	0	0	0.002	0.72154	D	0.005	0.72224	D	0.738	0.48822	P	0.765	0.56630	P	0.000005	0.62929	D	0.104648	0.973806	0.39053	D	3.28	0.90206	M	-3.12	0.92774	D	-3.34	0.66325	D	0.708	0.71143	0.840	0.94902	D	0.839	0.94628	D	10	0.8987119	0.89228	D	0.085815	0.74611	D	0.645	0.86536	0.835	0.94294	0.945463439951	0.94489	0.6022124185921854	0.60152	0.625094447251	0.56694	0.728086709976	0.71226	T	0.758	0.93414	D	0.118849	0.66256	D	-0.0670579	0.65836	T	0.990135967731476	0.80349	D	0.882912	0.61284	D	0.88073915	0.89727	0.67431754	0.80880	0.88073915	0.89729	0.67431754	0.80881	-10.734	0.78179	D	.	.	0.883	0.81684	P	.;.	.;.	3.686440	0.52496	23.2	0.9987577306951968	0.95244	0.83174	0.42314	D	AEFBI	0.222942	0.34736	N	0.416761997621375	0.62342	4.448737	0.369751200552894	0.59705	4.150779	0.977451831980098	0.29823	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.29	3.32	0.37134	0.426000	0.21081	0.386000	0.17834	0.446000	0.21189	0.998000	0.41325	0.994000	0.32194	0.992000	0.67800	0.0:0.7242:0.0:0.2758	9.678	0.39217	793	0.45818	Retinoblastoma-associated protein, B-box;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	354.31	33	chr20	37007453	.	C	G	354.31	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-4.577e+00;DP=1113;ExcessHet=0.6776;FS=128.460;InbreedingCoeff=-0.1019;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.82;ReadPosRankSum=1.10;SOR=9.383	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1222	17	0	4	0
chr20	37047163	37047163	G	A	exonic	RBL1	.	nonsynonymous SNV	RBL1:NM_001323281:exon11:c.C214T:p.R72C	.	.	434	1087	1	0	0	1	0.00045977	.	.	2337967	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.014	B	0.013	B	0.052	N	0.566	N	1.525	L	-2.4	D	-0.022	T	0.534	D	0.488	2.021	12.72	3.86	1.332	2.692	8.963	0.425	0.0389746045312	.	.	0.0002	0	0.0015	0	0	3.004e-05	0	0	0.0001552	24	154602	rs527246162	5.791e-05	6.498e-05	6.996e-05	4.574e-05	0.0015	4.78e-05	4.4e-05	0.0012	0.0011	3.054e-05	0.0015	0	0	0	0	1.892e-05	1.67e-05	0	0.0001	0.0001	8.995e-05	0.0001	0.0011	7.574e-05	6.279e-05	0.0007	0.0006	0	0	0.0011	0	0	0	0	1.47e-05	0	0	0.132	0.27194	T	0.154	0.32249	T	0.014	0.16867	B	0.013	0.16460	B	0.052018	0.22931	N	0.491421	0.56597	0.31218	N	0.845	0.21182	L	-2.4	0.88455	D	-3.23	0.65056	D	0.274	0.31365	-0.0222	0.81793	T	0.534	0.82767	D	10	0.08883709	0.15333	T	0.038975	0.58541	D	0.425	0.73299	.	.	0.931706222846	0.93100	0.3176144089969143	0.31674	0.314280072756	0.33708	0.23681473732	0.02510	T	0.568866	0.85691	D	-0.228901	0.16794	T	-0.14211	0.59934	T	0.0580273264043531	0.06854	T	0.925008	0.72455	D	0.24423644	0.47370	0.142149	0.33828	0.24423644	0.47370	0.142149	0.33827	-6.513	0.54435	T	.	.	0.083	0.08997	B	.;.	.;.	2.969578	0.39573	21.0	0.98724901174794288	0.45259	0.87248	0.46730	D	AEFBI	0.156887	0.28231	N	-0.197241576967343	0.33247	1.884181	-0.09112808486581	0.35756	2.072439	0.0815135776790061	0.15875	0.732398	0.92422	0	0.743671	0.97443	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	4.84	3.86	0.43689	2.296000	0.43245	3.230000	0.36903	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.0779:0.0:0.7678:0.1543	8.963	0.35021	581	0.69614	Retinoblastoma-associated protein, A-box|Retinoblastoma-associated protein, A-box;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	936.98	36	chr20	37047163	.	G	A	936.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=773;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.01;ReadPosRankSum=-7.760e-01;SOR=0.641	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1291	20	0	1	0
chr20	37184332	37184332	G	A	exonic	RPN2	.	nonsynonymous SNV	RPN2:NM_001135771:exon2:c.G166A:p.V56M	.	.	.	.	.	.	.	.	.	.	.	3064565	Congenital_disorder_of_glycosylation	MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.23	T	0.993	D	0.804	P	0.000	D	0.993	D	1.78	L	0.86	T	-0.917	T	0.156	T	0.368	3.399	17.48	1.62	0.635	4.378	4.273	0.221	0.00844877041333	7.7e-05	0.000599042	0.0003	0	0	0	0	2.999e-05	0	0.0024	0.000304	47	154602	rs146095088	0.0001	0.0001	8.439e-05	0.0002	0.0019	0.0001	0.0001	0.0017	0.0016	0	0	0	0	0	0	1.888e-05	0.0001	0.0019	9.192e-05	9.186e-05	8.993e-05	9.4e-05	0.0027	5.524e-05	4.361e-05	0.0016	0.0013	2.405e-05	0	0	0	0	0	0	0	0	0.0027	0.16	0.34444	T	0.023	0.67890	D	0.993	0.65571	D	0.804	0.58350	P	0.000012	0.62929	D	0.065280	0.992634	0.41700	D	2.44	0.70756	M	0.86	0.46777	T	0.0	0.08187	N	0.677	0.73555	-0.9169	0.45971	T	0.156	0.48721	T	10	0.016771704	0.00355	T	0.008449	0.22357	T	0.221	0.51721	.	.	0.607155259044	0.60400	0.5523259098185079	0.55158	0.623859276739	0.56610	0.617620229721	0.55392	T	0.090069	0.38507	T	-0.4037	0.02189	T	-0.359448	0.38116	T	0.114555169896914	0.13889	T	0.975102	0.91204	D	0.049557693	0.08819	0.054963913	0.09554	0.049557693	0.08819	0.054963913	0.09554	-6.159	0.47590	T	.	.	0.133	0.49654	B	.;.;.	.;.;.	4.128143	0.61754	24.4	0.99878451297840254	0.95491	0.73562	0.35982	D	AEFDGBHCI	0.696143	0.65458	D	0.284242506638098	0.55349	3.699048	0.225820635313421	0.51286	3.312337	0.999948259189394	0.47345	0.645754	0.44609	0	0.696144	0.67643	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.8	1.62	0.22817	4.345000	0.59140	3.513000	0.38852	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.1948:0.0:0.6256:0.1796	4.273	0.10241	348	0.85549	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1958.98	46	chr20	37184332	.	G	A	1958.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.858;DP=894;ExcessHet=0.0000;FS=1.422;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.07;ReadPosRankSum=-1.363e+00;SOR=0.852	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1241	20	0	1	0
chr20	37931788	37931788	C	T	exonic	VSTM2L	.	nonsynonymous SNV	VSTM2L:NM_080607:exon2:c.C275T:p.A92V,	.	.	423	1026	69	4	0	77	0.0361672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.355	B	0.071	B	0.000	D	1.000	N	1.32	L	1.68	T	-0.878	T	0.122	T	0.221	2.322	13.72	3.71	1.070	3.699	14.315	0.032	.	0.0042	0.0117812	0.0098	0.0019	0.0023	0.0004	0.0057	0.0045	0.0149	0.0471	0.0085381	1320	154602	rs146022041	0.0061	0.0061	0.0047	0.0075	0.0485	0.0060	0.0060	0.0472	0.0467	0.0024	0.0018	0.0047	0.0001	0.0059	0.0165	0.0033	0.0072	0.0485	0.0048	0.0049	0.0037	0.0060	0.0478	0.0045	0.0044	0.0427	0.0408	0.0018	0.0044	0.0025	0.0061	0	0.0065	0.0204	0.0041	0.0047	0.0478	0.269	0.17468	T	0.25	0.23707	T	0.355	0.33731	B	0.071	0.27960	B	0.000401	0.44736	D	0.226724	1	0.81001	D	0.895	0.22405	L	-0.12	0.64630	T	-1.41	0.45222	N	0.437	0.47580	-0.8785	0.49880	T	0.122	0.42441	T	10	0.0047867894	0.00101	T	.	.	.	0.032	0.07718	.	.	0.26169431596	0.25797	0.13540269107496228	0.13464	0.217275047977	0.24248	0.488715529442	0.37260	T	0.017388	0.14198	T	-0.459898	0.00985	T	-0.39908	0.33492	T	0.0156149174097317	0.00357	T	0.877312	0.59062	D	0.119384415	0.28111	0.15047161	0.35486	0.119384415	0.28111	0.15047161	0.35485	-6.433	0.49767	T	.	.	0.115	0.22897	B	.;.	.;.	3.914083	0.57101	23.8	0.98953576036538993	0.49189	0.97240	0.73520	D	AEFDGBI	0.603113	0.59472	D	-0.174269650302517	0.34209	1.949822	-0.0849837739291406	0.36010	2.090288	0.999998422191381	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	4.66	3.71	0.41733	3.815000	0.55355	3.908000	0.40392	0.537000	0.25018	0.996000	0.39380	0.999000	0.35428	0.817000	0.38496	0.0:0.8506:0.1494:0.0	14.315	0.65999	843	0.36859	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	5312.66	41	chr20	37931788	.	C	T	5312.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.02;DP=923;ExcessHet=0.0000;FS=5.274;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=21.95;ReadPosRankSum=0.185;SOR=1.057	GT:AD:DP:GQ:PL	1/1:0,129:129:99:4080,386,0	19	1	1	0
chr20	38002734	38002734	C	T	exonic	TTI1	.	nonsynonymous SNV	TTI1:NM_001303457:exon4:c.G2546A:p.R849H	.	.	434	1081	7	0	0	7	0.00322729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.022	B	0.003	B	0.921	N	1.000	N	0.69	N	0.46	T	-1.049	T	0.060	T	0.045	1.679	11.57	-0.962	-0.795	0.052	1.715	0.012	.	0.0003	0.00479233	0.0024	0.0010	0.0003	0.0008	0	0.0003	0.0033	0.0149	0.0021474	332	154602	rs147058267	0.0011	0.0011	0.0006	0.0016	0.0153	0.0011	0.0010	0.0146	0.0143	0.0008	0.0002	0.0007	0.0004	9.36e-05	0.0016	0.0001	0.0012	0.0153	0.0010	0.0010	0.0008	0.0012	0.0145	0.0009	0.0008	0.0118	0.0108	0.0012	0	0.0003	0.0009	0.0010	0.0002	0.0102	0.0002	0.0005	0.0145	0.238	0.17821	T	0.152	0.32249	T	0.022	0.18677	B	0.003	0.08700	B	0.920585	0.07473	N	1.033240	1	0.08975	N	1.245	0.31408	L	0.46	0.56281	T	0.43	0.03297	N	0.068	0.06454	-1.0488	0.14733	T	0.060	0.25200	T	10	0.0039944947	0.00077	T	.	.	.	0.012	0.01476	.	.	0.107399877778	0.10242	0.08297359489522074	0.08232	0.183938305836	0.20688	0.193576946855	0.00295	T	0.004306	0.03709	T	-0.629614	0.00096	T	-0.665497	0.07899	T	0.0119537082256107	0.00187	T	0.294271	0.05429	T	0.018503878	0.00371	0.01838724	0.00054	0.019773362	0.00515	0.0201749	0.00122	-4.337	0.28692	T	.	.	0.067	0.02370	B	.;.;.	.;.;.	0.511276	0.08799	5.579	0.96857585968343074	0.31369	0.05464	0.11344	N	AEFDBHCI	0.039910	0.05861	N	-1.40962472109699	0.02553	0.1129078	-1.42807514634091	0.02974	0.1378778	0.999576588577543	0.40495	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.36	-0.962	0.09806	0.048000	0.13962	-0.432000	0.09215	-2.768000	0.00193	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2065:0.4245:0.1077:0.2613	1.715	0.02725	735	0.53711	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	503.98	35	chr20	38002734	.	C	T	503.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=9.000e-03;DP=764;ExcessHet=0.0000;FS=2.297;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.40;ReadPosRankSum=-5.960e-01;SOR=0.407	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1240	20	0	1	0
chr20	38012612	38012612	G	A	exonic	TTI1	.	nonsynonymous SNV	TTI1:NM_001303457:exon2:c.C1205T:p.S402F	.	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.834	P	0.42	B	0.004	N	0.899	N	2.015	M	2.41	T	-1.058	T	0.051	T	0.643	0.790	8.162	4.49	2.861	3.173	8.907	0.112	0.00518472384454	0.0002	0.00139776	0.0010	0	8.639e-05	0	0	0.0006	0.0011	0.0048	0.0008603	133	154602	rs200453222	0.0006	0.0006	0.0004	0.0007	0.0049	0.0005	0.0005	0.0045	0.0044	5.974e-05	4.472e-05	0.0072	0	0	0.0016	0.0001	0.0007	0.0049	0.0004	0.0004	0.0003	0.0005	0.0044	0.0003	0.0003	0.0029	0.0025	0	0	0.0002	0.0075	0	0	0	0.0001	0.0009	0.0044	0.005	0.63226	D	0.02	0.58613	D	0.834	0.46206	P	0.42	0.45080	B	0.003794	0.34487	N	0.342317	0.899359	0.27731	N	2.48	0.72069	M	2.41	0.15492	T	-3.59	0.69236	D	0.543	0.57263	-1.0585	0.12134	T	0.051	0.21572	T	10	0.012434214	0.00267	T	0.005185	0.13187	T	0.112	0.31546	.	.	0.496891249646	0.49325	0.2327331264685259	0.23188	0.447694606286	0.44630	0.439351499081	0.30488	T	0.185292	0.53821	T	-0.366221	0.03790	T	-0.297737	0.44962	T	0.0909602871947454	0.11332	T	0.919908	0.71037	D	0.17750156	0.38719	0.18701759	0.41909	0.13837087	0.32004	0.1818927	0.41080	-5.972	0.46045	T	.	.	0.213	0.44161	B	.;.;.	.;.;.	3.663436	0.52058	23.2	0.99195756002772684	0.55112	0.78605	0.38806	D	AEFBI	.	.	.	0.353938589522648	0.58946	4.070348	0.357130589738235	0.58937	4.067715	0.652663239831108	0.22181	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.5	4.49	0.54177	2.879000	0.48220	8.551000	0.77529	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.779000	0.36868	0.0887:0.1665:0.7447:0.0	8.907	0.34687	746	0.52331	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5038.08	36	chr20	38012612	.	G	A	5038.08	.	AC=2;AF=0.048;AN=42;DP=860;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.36;SOR=0.706	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	1	0	0
chr20	38013333	38013333	C	T	exonic	TTI1	.	nonsynonymous SNV	TTI1:NM_001303457:exon2:c.G484A:p.A162T	.	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.992	D	0.813	P	0.000	N	1.000	D	2.28	M	-0.25	T	-0.395	T	0.380	T	0.274	3.649	18.55	4.41	1.499	3.502	13.007	0.391	0.0427066949098	0.0032	0.000798722	0.0032	0.0005	0.0008	0	0.0045	0.0047	0.0011	0.0021	0.0031953	494	154602	rs34249579	0.0035	0.0035	0.0036	0.0035	0.0041	0.0034	0.0034	0.0040	0.0040	0.0004	0.0007	3.826e-05	0	0.0038	0.0003	0.0041	0.0025	0.0018	0.0024	0.0024	0.0025	0.0023	0.0041	0.0022	0.0021	0.0037	0.0035	0.0005	0	0.0006	0.0003	0	0.0044	0	0.0041	0.0009	0.0015	0.026	0.46910	D	0.011	0.64786	D	0.992	0.64738	D	0.813	0.58748	P	0.000103	0.50451	N	0.203882	0.999902	0.50806	D	1.995	0.54099	M	-0.25	0.67011	T	-2.55	0.55181	D	0.176	0.18920	-0.3952	0.72178	T	0.380	0.73684	T	10	0.0108932555	0.00241	T	0.042707	0.60604	D	0.391	0.70684	.	.	0.755346683103	0.75313	0.4660190911155813	0.46520	0.168622775223	0.19010	0.383405983448	0.22738	T	0.088332	0.38135	T	-0.368203	0.03686	T	-0.300584	0.44662	T	0.0244759054572206	0.01205	T	0.90091	0.65583	D	0.2428446	0.47216	0.2331448	0.48495	0.21153484	0.43480	0.23804887	0.49117	-6.791	0.52492	T	.	.	0.137	0.30582	B	.;.;.	.;.;.	3.630033	0.51418	23.1	0.99853686732717895	0.93279	0.96834	0.71191	D	AEFBIJ	.	.	.	0.461668325595995	0.64867	4.751338	0.438491397607659	0.63982	4.643204	0.993924608083902	0.33413	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.35	4.41	0.52588	3.551000	0.53445	2.787000	0.34772	0.599000	0.40250	0.997000	0.40164	0.994000	0.32194	0.994000	0.71098	0.0:0.9233:0.0:0.0767	13.007	0.58118	750	0.51762	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2126.98	36	chr20	38013333	.	C	T	2126.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=869;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=0.555;SOR=0.713	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr20	38239704	38239704	G	A	exonic	KIAA1755	.	nonsynonymous SNV	KIAA1755:NM_001029864:exon4:c.C1571T:p.T524I	.	.	426	1075	21	0	0	21	0.00967296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.998	D	0.994	D	0.016	N	0.730	N	1.725	L	3.37	T	-1.123	T	0.025	T	0.21	0.847	8.426	3.48	2.466	2.983	7.662	0.059	.	0.0060	0.00239617	0.0067	0.0016	0.0041	0.0001	0.0009	0.0097	0.0112	0.0049	0.0069339	1072	154602	rs11699859	0.0086	0.0086	0.0087	0.0086	0.0231	0.0085	0.0084	0.0199	0.0187	0.0021	0.0048	0.0250	5.038e-05	0.0012	0.0231	0.0095	0.0090	0.0042	0.0061	0.0061	0.0064	0.0057	0.0091	0.0057	0.0056	0.0085	0.0083	0.0017	0	0.0058	0.0239	0	0.0004	0.0238	0.0091	0.0142	0.0046	0.262	0.16466	T	0.534	0.11263	T	0.998	0.73220	D	0.994	0.82059	D	0.015797	0.28151	N	0.252227	0.730195	0.29837	N	1.67	0.42885	L	3.37	0.05847	T	-1.64	0.39314	N	0.238	0.26837	-1.1234	0.02127	T	0.025	0.10553	T	10	0.0070616305	0.00160	T	.	.	.	0.059	0.16972	.	.	0.345859378078	0.34197	0.3229361013259496	0.32206	0.233706323324	0.25904	0.442297697067	0.30891	T	0.003369	0.02778	T	-0.5648	0.00238	T	-0.573041	0.15172	T	0.0375556806196899	0.03253	T	0.645335	0.25688	T	0.074009895	0.16579	0.094342776	0.22328	0.074009895	0.16579	0.094342776	0.22327	-5.189	0.38830	T	.	.	0.173	0.37932	B	.;.	.;.	4.250465	0.64514	24.7	0.87617255068720179	0.17357	0.74879	0.36642	D	AEFDBIJ	0.298890	0.40808	N	0.401004633049871	0.61479	4.349444	0.362794296047759	0.59280	4.104712	0.061314928042297	0.15227	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	4.43	3.48	0.38946	3.181000	0.50603	5.503000	0.48778	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.730000	0.35099	0.1125:0.0:0.8875:0.0	7.662	0.27573	898	0.25240	.;.	.	.	KIAA1755	Artery_Aorta	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1480.98	33	chr20	38239704	.	G	A	1480.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.30;DP=829;ExcessHet=0.0000;FS=0.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=-1.087e+00;SOR=0.760	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	0	1	0
chr20	38241493	38241493	C	T	exonic	KIAA1755	.	nonsynonymous SNV	KIAA1755:NM_001029864:exon3:c.G638A:p.S213N	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.024	B	0.005	B	0.410	N	0.999	N	1.7	L	3.26	T	-1.009	T	0.021	T	0.019	2.127	13.07	-0.12	0.127	0.224	7.615	0.093	0.00390899842245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.32453	T	0.088	0.46632	T	0.024	0.19075	B	0.005	0.11217	B	0.410095	0.13008	N	0.719989	0.999165	0.21555	N	1.795	0.47270	L	3.26	0.06681	T	-1.33	0.33197	N	0.05	0.02559	-1.0091	0.27198	T	0.021	0.08963	T	10	0.06333992	0.08236	T	0.003909	0.09211	T	0.093	0.26882	0.154	0.05752	0.124217242631	0.12060	0.29393609298070267	0.29306	0.0398615421782	0.04262	0.279902338982	0.07478	T	0.081197	0.36540	T	-0.404015	0.02179	T	-0.818116	0.01491	T	0.101302100139843	0.12500	T	0.546045	0.18695	T	0.0863439	0.20066	0.094387606	0.22339	0.0863439	0.20066	0.094387606	0.22338	-5.507	0.41933	T	.	.	0.099	0.18289	B	.;.	.;.	1.285994	0.16863	12.81	0.97778148224927397	0.35913	0.46321	0.27734	N	AEFBI	0.281104	0.39476	N	-0.604006222347972	0.18822	0.980349	-0.591107103254491	0.19724	1.059548	0.00440893782532971	0.10539	0.554377	0.28877	0	0.59043	0.45803	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.46	-0.12	0.12879	-0.761000	0.04856	-0.680000	0.07891	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.698000	0.34080	0.0:0.5445:0.2378:0.2177	7.615	0.27319	886	0.28090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2504.98	136	chr20	38241493	.	C	T	2504.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.136e+00;DP=2466;ExcessHet=0.0000;FS=7.055;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.85;ReadPosRankSum=-2.062e+00;SOR=1.001	GT:AD:DP:GQ:PL	0/0:126,0:126:99:0,120,1800	20	0	1	0
chr20	38354379	38354379	C	G	exonic	LBP	.	nonsynonymous SNV	LBP:NM_004139:exon4:c.C464G:p.T155S,	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.003	B	0.041	B	0.171	N	1.000	N	0.245	N	3.5	T	-0.914	T	0.009	T	0.103	-1.320	0.033	2.81	0.725	2.235	6.628	0.058	0.0051615828506	0.0025	0.00119808	0.0017	0.0005	0.0023	0.0012	0	0.0025	0.0011	0	0.0020116	311	154602	rs140791140	0.0030	0.0030	0.0030	0.0029	0.0035	0.0029	0.0029	0.0034	0.0034	0.0004	0.0034	0.0019	0.0009	0.0002	0.0009	0.0035	0.0026	6.957e-05	0.0021	0.0021	0.0021	0.0021	0.0039	0.0019	0.0018	0.0031	0.0028	0.0005	0	0.0039	0.0012	0.0021	0.0002	0.0034	0.0031	0.0052	0	0.69	0.04302	T	1.0	0.01155	T	0.003	0.11197	B	0.041	0.23986	B	0.170971	0.17375	N	0.571547	1	0.08975	N	0.79	0.19579	N	3.5	0.05014	T	-0.44	0.14588	N	0.129	0.12341	-0.9143	0.46311	T	0.009	0.03140	T	10	0.0044599473	0.00092	T	0.005162	0.13125	T	0.058	0.16647	0.452	0.51448	0.141422826196	0.13715	0.24020681835314237	0.23934	0.088101396591	0.09952	0.333153188229	0.15410	T	0.021314	0.16617	T	-0.641629	0.00081	T	-0.694952	0.06106	T	0.0077685531030956	0.00091	T	0.467153	0.13745	T	0.07193386	0.15964	0.064475514	0.12926	0.07193386	0.15963	0.064475514	0.12926	-3.119	0.11516	T	.	.	0.084	0.09820	B	.	.	0.338335	0.07118	3.697	0.39771850120629304	0.02765	0.10952	0.16306	N	AEFDBI	0.600519	0.59312	D	-1.00189542527828	0.08564	0.4020368	-0.948026893486962	0.10969	0.555921	0.987116285399738	0.31187	0.559995	0.30671	0	0.547309	0.14657	0	0.527494	0.11647	0	0.530356	0.10902	0	.	.	4.77	2.81	0.31971	2.259000	0.42914	1.738000	0.28378	0.599000	0.40250	0.055000	0.21596	0.002000	0.18203	0.136000	0.19798	0.0:0.7225:0.1809:0.0966	6.628	0.22032	793	0.45818	Lipid-binding serum glycoprotein, N-terminal|Lipid-binding serum glycoprotein, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2100.98	38	chr20	38354379	.	C	G	2100.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.025e+00;DP=900;ExcessHet=0.0000;FS=11.208;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=-4.860e-01;SOR=0.298	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1354	20	0	1	0
chr20	38497424	38497424	A	G	exonic	RALGAPB	.	nonsynonymous SNV	RALGAPB:NM_001282917:exon4:c.A461G:p.E154G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.59	P	0.275	B	0.000	D	1.000	D	1.555	L	-0.07	T	-0.786	T	0.212	T	0.631	3.317	17.15	5.32	2.004	9.089	15.319	0.253	0.0347406351716	0.0002	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376920561	1.095e-05	1.095e-05	1.089e-05	1.1e-05	1.439e-05	6.48e-06	5.25e-06	8.52e-06	6.89e-06	0	0	0	0	0	0	1.439e-05	0	0	3.287e-05	3.284e-05	6.426e-05	0	5.882e-05	1.261e-05	7.98e-06	1.972e-05	1.125e-05	2.414e-05	0	0	0	0	0	0	5.882e-05	0	0	0.494	0.07895	T	0.411	0.14500	T	0.447	0.36006	B	0.168	0.35187	B	0.000002	0.62929	D	0.100373	1	0.81001	D	1.39	0.34934	L	-0.07	0.63738	T	-1.92	0.44657	N	0.674	0.68690	-0.7859	0.55967	T	0.212	0.57321	T	10	0.46004295	0.59228	T	0.034741	0.55878	D	0.253	0.56294	.	.	0.15499578495	0.15088	0.380808061166969	0.37995	1.03285227811	0.75478	0.6066583395	0.53844	T	0.054125	0.29635	T	0.0640633	0.60119	T	-0.130268	0.60949	T	0.77552193403244	0.44774	D	0.931907	0.74605	D	0.17901613	0.38952	0.15158099	0.35700	0.17901613	0.38951	0.15158099	0.35699	-9.597	0.71461	D	.	.	0.313	0.53989	B	.;.;.	.;.;.	4.538655	0.71321	25.7	0.99791897088501891	0.87750	0.99570	0.97553	D	AEFDBIJ	0.854658	0.77170	D	0.295297329439441	0.55911	3.755122	0.417932989800249	0.62682	4.487785	0.999999997091574	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.32	5.32	0.75377	9.078000	0.93430	11.194000	0.88775	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.319	0.73814	855	0.34697	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1667	341.57	131	chr20	38497424	.	A	G	341.57	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-3.982e+00;DP=1625;ExcessHet=2.5830;FS=165.447;InbreedingCoeff=-0.2003;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.42;ReadPosRankSum=-1.800e-01;SOR=9.953	GT:AD:DP:GQ:PL	0/1:99,27:126:33:33,0,1909	14	0	7	0
chr20	38771634	38771634	A	G	exonic	ACTR5	.	nonsynonymous SNV	ACTR5:NM_024855:exon9:c.A1642G:p.N548D,	.	.	429	1087	6	0	0	6	0.00275229	.	.	2306146	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.56	T	0.0	B	0.0	B	0.204	N	1.000	N	-0.06	N	-3.39	D	-0.589	T	0.466	T	0.021	-0.215	2.960	-0.377	-0.197	0.689	6.285	0.212	0.0399369646239	0.0002	0.000199681	0.0002	0	0.0002	0	0	0.0002	0	0.0001	0.0001294	20	154602	rs376195704	9.371e-05	9.371e-05	9.937e-05	8.8e-05	0.0023	8.092e-05	7.584e-05	0.0013	0.0011	2.987e-05	0.0002	0.0012	0	0	0.0023	4.676e-05	0.0001	0.0002	0.0001	0.0001	6.428e-05	0.0002	0.0003	7.091e-05	5.747e-05	0.0001	8.283e-05	0	0	0.0003	0.0020	0	0	0	4.411e-05	0.0005	0.0002	0.578	0.06030	T	0.595	0.08079	T	0.0	0.02946	B	0.0	0.01387	B	0.203621	0.16538	N	0.652566	1	0.08975	N	-0.61	0.02200	N	-3.39	0.94210	D	-0.61	0.18042	N	0.046	0.01825	-0.5886	0.65276	T	0.466	0.79361	T	10	0.010678619	0.00237	T	0.039937	0.59093	D	0.212	0.50341	.	.	0.506673610527	0.50307	0.12701628256818664	0.12627	0.0978838310417	0.11035	0.238634496927	0.02669	T	0.215823	0.57782	T	-0.347507	0.04886	T	-0.439387	0.28876	T	0.00440419145084432	0.00047	T	0.309069	0.05976	T	0.044496242	0.07123	0.0427612	0.05165	0.044496242	0.07122	0.0427612	0.05165	-4.005	0.23878	T	.	.	0.052	0.00216	B	.	.	0.016651	0.04400	1.142	0.61763001896971836	0.06791	0.00589	0.02644	N	AEFGBI	0.018718	0.00590	N	-1.27850945377716	0.03935	0.1767066	-1.23603658478628	0.05341	0.2542429	0.373090066784497	0.19889	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.75	-0.377	0.11879	0.720000	0.25566	0.414000	0.18144	-0.137000	0.12594	0.001000	0.13787	0.000000	0.08366	0.744000	0.35576	0.3201:0.1185:0.5614:0.0	6.285	0.20239	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1386.98	34	chr20	38771634	.	A	G	1386.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=817;ExcessHet=0.0000;FS=1.439;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.28;ReadPosRankSum=0.627;SOR=0.877	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1405	20	0	1	0
chr20	38902745	38902745	G	T	exonic	PPP1R16B	.	nonsynonymous SNV	PPP1R16B:NM_001172735:exon6:c.G649T:p.A217S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.273	B	0.052	B	0.002	N	0.990	D	0.805	L	0.81	T	-0.923	T	0.130	T	0.252	0.856	8.464	4.42	2.440	2.492	17.577	0.074	0.0162211507874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.501	0.07720	T	0.634	0.07105	T	0.18	0.29046	B	0.052	0.25551	B	0.002449	0.36537	N	0.270733	0.989819	0.41028	D	1.04	0.26193	L	-0.1	0.64264	T	-0.17	0.10480	N	0.257	0.32370	-0.9229	0.45155	T	0.130	0.44048	T	10	0.15453303	0.29146	T	0.016221	0.37369	T	0.074	0.21613	0.393	0.41770	0.377143385212	0.37329	0.16357842038137338	0.16277	0.483929758565	0.47323	0.509059846401	0.40091	T	0.065175	0.32622	T	-0.102142	0.36070	T	-0.384497	0.35196	T	0.373864859342575	0.27946	T	0.817118	0.47377	T	0.056057654	0.10978	0.07404036	0.16156	0.056057654	0.10977	0.07404036	0.16156	-2.866	0.14735	T	.	.	0.084	0.11941	B	.;.	.;.	2.542028	0.32887	19.18	0.75629045313930865	0.11149	0.73404	0.35906	D	AEFGBCI	0.407364	0.47947	N	-0.516509176501018	0.21546	1.144251	-0.430225913111368	0.24115	1.31876	0.99999999988969	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.42	4.42	0.52775	2.685000	0.46626	8.591000	0.77687	0.676000	0.76740	0.725000	0.28872	1.000000	0.68203	0.829000	0.39076	0.0:0.0:1.0:0.0	17.577	0.87854	945	0.12563	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3259.08	35	chr20	38902745	.	G	T	3259.08	.	AC=2;AF=0.048;AN=42;DP=801;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.95;SOR=0.952	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1105	20	1	0	0
chr20	39010379	39010379	A	G	exonic	DHX35	.	nonsynonymous SNV	DHX35:NM_001190809:exon12:c.A1229G:p.N410S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.054	B	0.134	B	0.000	N	1.000	D	2.65	M	4.19	T	-1.116	T	0.010	T	0.062	2.852	15.50	4.2	0.921	7.464	11.581	0.220	.	0.0060	0.00519169	0.0020	0.0206	0.0010	0.0002	0	8.995e-05	0.0011	0.0004	0.0018111	280	154602	rs61757594	0.0007	0.0007	0.0008	0.0005	0.0207	0.0006	0.0006	0.0194	0.0189	0.0207	0.0012	3.826e-05	2.519e-05	0	0.0009	8.903e-05	0.0012	0.0003	0.0055	0.0055	0.0062	0.0047	0.0189	0.0052	0.0051	0.0178	0.0173	0.0189	0	0.0023	0	0.0002	0	0	0.0001	0.0028	0.0002	0.012	0.54683	D	0.004	0.74150	D	0.021	0.18474	B	0.02	0.19048	B	0.000000	0.84330	N	0.042162	1	0.81001	D	2.005	0.54552	M	4.19	0.02716	T	-4.84	0.81187	D	0.563	0.58798	-1.1163	0.02580	T	0.010	0.03627	T	10	0.009386122	0.00212	T	.	.	.	0.220	0.51569	.	.	0.382592752248	0.37866	0.562226939321765	0.56149	0.153814078832	0.17355	0.723295807838	0.70527	T	0.157384	0.49997	T	-0.585546	0.00178	T	-0.596953	0.13069	T	0.0793929179806289	0.09908	T	0.918508	0.70719	D	0.39835253	0.60618	0.29175347	0.55201	0.39835253	0.60619	0.29175347	0.55200	-9.347	0.70072	D	.	.	0.285	0.56065	B	.;.;.	.;.;.	3.290249	0.45118	22.1	0.99645231039446758	0.76943	0.98885	0.88157	D	AEFGBI	0.805048	0.72974	D	0.0706432317533472	0.45097	2.772019	0.144702378409919	0.46863	2.925345	0.999999995856896	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.685571	0.62057	0	0.635551	0.53088	0	.	.	5.32	4.2	0.48814	7.424000	0.79433	6.084000	0.53377	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.878000	0.41950	0.9289:0.0:0.0711:0.0	11.581	0.50149	923	0.18507	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	731.98	38	chr20	39010379	.	A	G	731.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.417;DP=767;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.04;ReadPosRankSum=0.235;SOR=0.679	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1196	20	0	1	0
chr20	39030771	39030771	C	T	exonic	DHX35	.	nonsynonymous SNV	DHX35:NM_001190809:exon19:c.C1858T:p.R620C	.	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.663	P	0.000	D	1.000	D	1.845	L	4.14	T	-1.045	T	0.086	T	0.674	4.394	23.3	5.76	2.882	3.270	13.995	0.185	0.0311094178089	0.0003	0.000399361	0.0004	0	0.0008	0	0.0002	0.0005	0.0011	0.0007	0.0004722	73	154602	rs149376135	0.0005	0.0005	0.0005	0.0005	0.0082	0.0004	0.0004	0.0064	0.0057	0.0003	0.0012	0	0	3.745e-05	0.0082	0.0004	0.0012	0.0003	0.0008	0.0008	0.0005	0.0010	0.0044	0.0007	0.0006	0.0035	0.0032	0.0002	0	0.0044	0	0	0	0.0170	0.0004	0.0028	0.0002	0.005	0.65419	D	0.007	0.70582	D	0.996	0.68779	D	0.663	0.52893	P	0.000001	0.84330	D	0.055461	0.99999	0.81001	D	2.27	0.64531	M	4.14	0.31470	T	-2.88	0.71639	D	0.768	0.76853	-1.0449	0.15854	T	0.086	0.33298	T	10	0.035627663	0.01821	T	0.031109	0.53269	D	0.185	0.45933	.	.	0.524584940466	0.52104	0.4927267042088936	0.49193	0.507355003274	0.48918	0.643406152725	0.59049	T	0.135099	0.46672	T	-0.278656	0.10811	T	-0.213579	0.53351	T	0.120822916304542	0.14510	T	0.991801	0.97430	D	0.3379587	0.56116	0.21346766	0.45858	0.3379587	0.56116	0.21346766	0.45857	-8.161	0.62162	D	.	.	0.197	0.48345	B	.;.;.	.;.;.	5.392382	0.90332	31	0.99921280393138567	0.98787	0.86655	0.45982	D	AEFBI	0.439272	0.49832	N	0.618760058221753	0.74362	6.120	0.648796367787035	0.78519	6.893043	0.999988502007534	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.76	5.76	0.90726	3.599000	0.53795	5.930000	0.51304	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.961000	0.51904	0.1516:0.8484:0.0:0.0	13.995	0.63907	929	0.16858	Domain of unknown function DUF1605;.;Domain of unknown function DUF1605	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	970.98	36	chr20	39030771	.	C	T	970.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=832;ExcessHet=0.0000;FS=0.660;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.70;ReadPosRankSum=-2.486e+00;SOR=0.798	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1347	20	0	1	0
chr20	41100210	41100210	T	C	exonic	TOP1	.	nonsynonymous SNV	TOP1:NM_003286:exon12:c.T1130C:p.I377T,	DNA topoisomerase I, camptothecin-resistant (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.82	M	0.56	T	-0.099	T	0.396	T	0.851	4.753	26.6	5.27	2.134	8.040	15.488	0.574	0.0834407527716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.476e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.385	0.91502	M	0.56	0.54540	T	-3.32	0.66085	D	0.82	0.81559	-0.0985	0.80132	T	0.396	0.74836	T	10	0.9008926	0.89450	D	0.083441	0.74116	D	0.574	0.82742	0.722	0.85673	0.540554013241	0.53707	0.9560339756758913	0.95588	2.80145084336	0.98906	0.859892368317	0.91094	D	0.433276	0.78076	T	0.277652	0.81115	D	0.161051	0.80870	D	0.990620062547804	0.80840	D	0.893211	0.63049	D	0.72673106	0.79539	0.6802238	0.81211	0.72673106	0.79541	0.6802238	0.81212	-7.188	0.55395	T	0.21552924678770424	0.28978	0.700	0.72976	P	.	.	4.638435	0.73819	26.1	0.99864711876054513	0.94276	0.99367	0.95101	D	AEFDBIJ	0.901728	0.84877	D	0.864122058876594	0.89897	10.16446	0.811333328112474	0.90570	10.46782	0.99999999931251	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	8.017000	0.88732	7.929000	0.74923	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.488	0.75314	921	0.19240	DNA topoisomerase I, DNA binding, eukaryotic-type|DNA topoisomerase I, eukaryotic-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	69.59	45	chr20	41100210	.	T	C	69.59	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-1.482e+00;DP=972;ExcessHet=1.7912;FS=83.153;InbreedingCoeff=-0.1659;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.27;ReadPosRankSum=0.377;SOR=8.550	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:49,10:59:5:.:.:5,0,1023	15	0	6	0
chr20	41137682	41137682	C	T	exonic	PLCG1	.	nonsynonymous SNV	PLCG1:NM_002660:exon1:c.C41T:p.P14L	.	.	409	1112	1	0	0	1	0.000449438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.017	B	0.022	B	0.002	N	1.000	D	1.59	L	-0.18	T	-0.890	T	0.179	T	0.394	4.108	21.2	4.22	2.041	2.782	11.298	0.120	0.920737595684	.	.	0	0	0	0	0	0	0	0	0.0001537	4	26028	rs767209449	0.0002	0.0002	0.0002	0.0003	0.0027	0.0002	0.0002	0.0015	0.0012	0.0001	0.0003	0.0082	0	0	0.0027	8.168e-05	0.0008	0.0008	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0002	8.989e-05	0	0	0.0002	0.0090	0	0	0	8.842e-05	0.0010	0.0006	0.124	0.27426	T	0.634	0.07105	T	0.017	0.17573	B	0.022	0.19653	B	0.002172	0.37095	N	0.223501	1	0.81001	D	1.15	0.29295	L	-0.18	0.65747	T	-1.52	0.36980	N	0.118	0.11054	-0.8902	0.48916	T	0.179	0.52520	T	10	0.0062251687	0.00140	T	0.920738	0.99416	D	0.120	0.33359	.	.	0.596664231354	0.59345	0.30183769221919754	0.30096	.	.	0.880596995354	0.94040	D	0.428943	0.77791	T	-0.0335502	0.46899	T	-0.285969	0.46189	T	0.166146948709637	0.18314	T	0.836716	0.50835	T	0.108609505	0.25680	0.16106948	0.37485	0.108609505	0.25680	0.16106948	0.37484	-4.519	0.31136	T	.	.	0.090	0.12655	B	.;.	.;.	4.098685	0.61094	24.3	0.99717363190664421	0.81773	0.88364	0.48258	D	ALL	0.235582	0.35817	N	-0.16010616765004	0.34807	1.991224	-0.021859116129746	0.38730	2.286004	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.22	4.22	0.49153	1.261000	0.32582	7.364000	0.58360	0.555000	0.28237	0.523000	0.27135	1.000000	0.68203	0.997000	0.79791	0.0:0.9073:0.0:0.0927	11.298	0.48526	933	0.16026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	539.98	34	chr20	41137682	.	C	T	539.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=742;ExcessHet=0.0000;FS=1.146;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=0.689;SOR=0.889	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,987	20	0	1	0
chr20	41202906	41202906	C	T	exonic	ZHX3	.	nonsynonymous SNV	ZHX3:NM_001384319:exon2:c.G2011A:p.E671K	.	.	415	1094	13	0	0	13	0.00590641	.	.	1528407	ZHX3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.58	T	0.291	B	0.238	B	0.003	N	1.000	D	2.005	M	2.99	T	-0.345	T	0.335	T	0.295	1.763	11.85	6.06	2.879	3.458	19.613	0.090	0.00735749503526	0.0025	0.00119808	0.0027	0.0003	0.0005	0	0.0021	0.0035	0.0033	0.0038	0.0005175	80	154602	rs41277006	0.0032	0.0032	0.0031	0.0033	0.0045	0.0031	0.0031	0.0036	0.0035	0.0006	0.0010	0.0026	0	0.0022	0.0045	0.0035	0.0026	0.0040	0.0027	0.0027	0.0027	0.0026	0.0044	0.0025	0.0024	0.0037	0.0036	0.0006	0	0.0024	0.0029	0	0.0022	0.0102	0.0041	0.0047	0.0044	0.258	0.16683	T	0.274	0.24549	T	0.003	0.11197	B	0.006	0.12133	B	0.003367	0.35041	N	0.336597	0.678956	0.81001	D	1.265	0.31966	L	2.99	0.11298	T	-0.28	0.11547	N	0.215	0.24758	-0.3447	0.73708	T	0.335	0.70174	T	10	0.0054009557	0.00119	T	0.007357	0.19523	T	0.090	0.26093	.	.	0.350307294319	0.34646	0.49029880197784004	0.48949	0.262882865191	0.28850	0.342092990875	0.16751	T	0.007531	0.06930	T	-0.507511	0.00519	T	-0.502301	0.22110	T	0.0147433289886283	0.00308	T	0.806319	0.46368	T	0.07875354	0.17954	0.114572115	0.27656	0.07875354	0.17954	0.114572115	0.27655	-5.289	0.39834	T	.	.	0.104	0.18910	B	.;.;.;.;.	.;.;.;.;.	3.034932	0.40663	21.2	0.9951235296854688	0.68739	0.86815	0.46179	D	AEFDBI	0.370191	0.45665	N	0.412148920361317	0.62088	4.419288	0.484663891136411	0.66972	5.022333	0.796751438916223	0.24113	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	6.06	6.06	0.98340	2.824000	0.47789	4.895000	0.45803	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	19.613	0.95607	950	0.11238	Homeobox domain;Homeobox domain;.;Homeobox domain;Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2148.98	33	chr20	41202906	.	C	T	2148.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.356;DP=884;ExcessHet=0.0000;FS=2.636;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=0.452;SOR=0.910	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1228	20	0	1	0
chr20	41347644	41347644	T	A	exonic	LPIN3	.	nonsynonymous SNV	LPIN3:NM_001301860:exon3:c.T285A:p.D95E	.	.	408	1089	25	0	0	25	0.0113482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	B	0.012	B	0.824	N	1.000	N	0.07	N	-0.98	T	-1.006	T	0.154	T	0.103	0.838	8.384	0.458	0.073	-0.214	1.266	0.083	.	0.0013	0.00119808	0.0024	0.0013	0.0004	0	0	0.0015	0.0024	0.0111	0.0020698	320	154602	rs141757517	0.0012	0.0013	0.0010	0.0015	0.0091	0.0012	0.0012	0.0083	0.0081	0.0019	0.0006	0.0076	0	0	0.0091	0.0005	0.0019	0.0088	0.0012	0.0012	0.0011	0.0014	0.0075	0.0011	0.0010	0.0055	0.0049	0.0012	0	0.0006	0.0089	0	0	0	0.0008	0.0033	0.0075	0.44	0.09264	T	0.791	0.04274	T	0.028	0.19712	B	0.012	0.16012	B	0.823554	0.06898	N	1.071380	0.999996	0.08975	N	0.175	0.09039	N	-0.98	0.75789	T	-0.57	0.17210	N	0.092	0.07125	-1.0061	0.28126	T	0.154	0.48412	T	9	0.004119873	0.00081	T	.	.	.	0.083	0.24192	0.448	0.50793	0.367612772649	0.36367	0.0823226243251057	0.08167	0.144117593316	0.16271	0.3481528759	0.17650	T	0.004792	0.04206	T	-0.519451	0.00443	T	-0.512535	0.21054	T	0.00127356250301974	0.00013	T	0.681532	0.29705	T	0.03167756	0.03051	0.03288729	0.02094	0.03167756	0.03051	0.03288729	0.02094	-2.728	0.07567	T	.	.	0.091	0.17103	B	.;.	.;.	0.674402	0.10428	7.150	0.57772500901972024	0.05843	0.13557	0.17923	N	AEFDGBHI	0.109753	0.21789	N	-1.11831149760462	0.06317	0.2904757	-1.06424798322431	0.08413	0.4135292	0.814905485133851	0.24421	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.56	0.458	0.15882	-0.180000	0.09747	-0.617000	0.08192	-0.137000	0.12594	0.006000	0.17386	0.058000	0.21979	0.258000	0.23468	0.2349:0.1378:0.1214:0.5059	1.266	0.01890	955	0.09969	Lipin, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1130.98	37	chr20	41347644	.	T	A	1130.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.695;DP=772;ExcessHet=0.0000;FS=1.868;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.79;ReadPosRankSum=-8.130e-01;SOR=0.446	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1144	20	0	1	0
chr20	41354711	41354711	C	T	exonic	LPIN3	.	stopgain	LPIN3:NM_001301860:exon12:c.C1597T:p.R533X	.	.	379	1142	0	1	0	2	0.000874891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	6.791	38	-0.589	0.144	-0.084	11.591	.	.	0.0005	0.000399361	0.0003	0	0.0004	0	0	0.0004	0.0012	0	0.0002587	40	154602	rs140359632	0.0005	0.0006	0.0006	0.0005	0.0007	0.0005	0.0005	0.0006	0.0006	5.991e-05	0.0004	0	2.53e-05	3.763e-05	0.0003	0.0007	0.0004	2.349e-05	0.0003	0.0003	0.0005	0.0002	0.0007	0.0003	0.0002	0.0004	0.0003	0.0001	0	0.0007	0	0	0	0.0034	0.0005	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.236	0.26596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311252	0.83837	D	0.558747	0.95874	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	8.425984	0.97550	37	0.99662723093759287	0.78074	0.78133	0.38504	D	AEFBI	0.413334	0.48305	N	0.602251624601492	0.73316	5.946416	0.356880504301243	0.58924	4.066081	9.71398828318723E-5	0.04910	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.21	-0.589	0.11097	-0.328000	0.07988	0.137000	0.15122	0.599000	0.40250	0.357000	0.25817	0.908000	0.28083	0.975000	0.56047	0.4801:0.4321:0.0877:0.0	11.591	0.50203	957	0.09725	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	847.98	34	chr20	41354711	.	C	T	847.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.480e-01;DP=802;ExcessHet=0.0000;FS=0.799;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.32;ReadPosRankSum=0.270;SOR=0.820	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1283	20	0	1	0
chr20	41362193	41362193	C	T	exonic	EMILIN3	.	nonsynonymous SNV	EMILIN3:NM_052846:exon4:c.G1376A:p.G459E,	.	.	434	1045	38	4	1	47	0.0215356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.883	P	0.36	B	0.569	N	1.000	N	1.7	L	2.6	T	-1.040	T	0.016	T	0.117	0.050	4.272	0.116	0.146	0.494	7.074	0.087	.	0.0016	0.0105831	0.0065	0.0019	0.0178	0.0145	0	0.0021	0.0090	0.0180	0.006203	959	154602	rs2235591	0.0045	0.0045	0.0041	0.0048	0.0321	0.0044	0.0043	0.0306	0.0300	0.0008	0.0178	0.0013	0.0321	0	0.0097	0.0022	0.0056	0.0182	0.0042	0.0042	0.0039	0.0045	0.0199	0.0039	0.0038	0.0168	0.0156	0.0012	0	0.0147	0.0020	0.0199	0	0.0068	0.0021	0.0104	0.0182	1.0	0.00964	T	0.17	0.30436	T	0.883	0.48537	P	0.36	0.43183	B	0.569009	0.11258	N	0.787443	1	0.08975	N	1.78	0.46185	L	2.6	0.13204	T	-1.03	0.27052	N	0.126	0.11912	-1.0395	0.17465	T	0.016	0.06616	T	9	0.0035164952	0.00063	T	.	.	.	0.087	0.25287	.	.	0.274366138417	0.27033	0.4090357898995136	0.40819	0.194200511898	0.21755	0.307287752628	0.11497	T	0.005593	0.05042	T	-0.64763	0.00075	T	-0.688115	0.06498	T	0.0123370872206633	0.00200	T	0.462854	0.13445	T	0.050630543	0.09178	0.059650447	0.11231	0.050630543	0.09177	0.059650447	0.11231	-3.756	0.20149	T	.	.	0.069	0.03231	B	.	.	1.182456	0.15731	12.06	0.88620130383890861	0.18120	0.15972	0.19170	N	AEFDBCI	0.129058	0.24707	N	-0.63572866531942	0.17878	0.9237465	-0.781991029340394	0.14937	0.7830685	0.032117950665719	0.14038	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.96	0.116	0.13953	0.103000	0.15128	1.404000	0.26222	-0.216000	0.08207	0.000000	0.06391	0.023000	0.20922	0.214000	0.22296	0.1633:0.5833:0.0:0.2535	7.074	0.24370	950	0.11238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3839.11	34	chr20	41362193	.	C	T	3839.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.46;DP=1067;ExcessHet=0.1072;FS=1.396;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.10;ReadPosRankSum=0.886;SOR=0.592	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1302	19	0	2	0
chr20	41416769	41416769	T	C	exonic	CHD6	.	nonsynonymous SNV	CHD6:NM_032221:exon33:c.A6305G:p.D2102G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.976	D	0.612	P	0.000	D	1.000	D	2.415	M	-3.17	D	0.838	D	0.829	D	0.942	5.060	31	5.57	2.248	7.997	16.035	0.942	0.337114537755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.919e-07	6.84e-07	0	1.396e-06	9.077e-07	0	0	.	.	0	0	0	0	0	0	9.077e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.976	0.58310	D	0.612	0.51145	P	0.000006	0.62929	D	0.000000	0.999995	0.58761	D	2.85	0.82803	M	-3.17	0.93054	D	-5.6	0.86608	D	0.882	0.88027	0.838	0.94881	D	0.829	0.94245	D	10	0.94815457	0.94145	D	0.337115	0.91913	D	0.942	0.98780	0.779	0.90388	0.955942297982	0.95547	0.7923815222132432	0.79190	0.753774766395	0.63915	0.697189450264	0.66738	T	0.707107	0.91615	D	0.494793	0.94145	D	0.472959	0.94068	D	0.99029666185379	0.80512	D	0.972203	0.89922	D	0.80245364	0.84063	0.8030114	0.88459	0.80245364	0.84064	0.8030114	0.88460	-9.486	0.70772	D	.	.	0.879	0.81404	P	.	.	5.104084	0.85296	28.6	0.99887021260468778	0.96204	0.99365	0.95074	D	AEFDBHI	0.870078	0.79090	D	0.72194309665352	0.81072	7.437139	0.730459916063227	0.84693	8.36323	0.999999918219469	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.57	5.57	0.84021	8.017000	0.88732	7.900000	0.73503	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.035	0.80419	937	0.14592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2047.98	34	chr20	41416769	.	T	C	2047.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.806e+00;DP=843;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.73;ReadPosRankSum=0.546;SOR=0.705	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1253	20	0	1	0
chr20	41423590	41423590	C	T	exonic	CHD6	.	nonsynonymous SNV	CHD6:NM_032221:exon30:c.G4457A:p.R1486H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	2.26	M	-3.5	D	0.981	D	0.911	D	0.946	5.783	36	6.07	2.884	6.094	20.644	0.806	0.38423543356	7.7e-05	0.000199681	0.0003	0.0004	0	0	0	0	0	0.0019	0.0002393	37	154602	rs371255892	0.0001	0.0001	8.031e-05	0.0002	0.0018	0.0001	0.0001	0.0015	0.0014	0.0003	2.236e-05	0	2.519e-05	1.872e-05	0.0002	8.993e-06	0.0001	0.0018	0.0001	0.0001	3.854e-05	0.0002	0.0017	7.571e-05	6.277e-05	0.0008	0.0006	0.0002	0	0.0001	0	0.0002	0	0	0	0	0.0017	0.033	0.44358	D	0.001	0.83351	D	1.0	0.90584	D	0.995	0.83170	D	0.000006	0.62929	D	0.000000	1	0.81001	D	2.725	0.79712	M	-3.5	0.94658	D	-4.78	0.80510	D	0.321	0.36148	0.981	0.96880	D	0.911	0.97046	D	10	0.10755578	0.19983	T	0.384235	0.93042	D	0.806	0.93699	.	.	0.965989590105	0.96562	0.6932457179725743	0.69264	0.271897067302	0.29697	0.526541352272	0.42548	T	0.606959	0.87486	D	0.163168	0.70495	D	0.45434	0.93683	D	0.135770559310913	0.15906	T	0.943706	0.78720	D	0.2650059	0.49569	0.29134145	0.55159	0.2650059	0.49569	0.29134145	0.55158	-7.703	0.59029	D	.	.	0.112	0.22098	B	.	.	4.713495	0.75742	26.4	0.99957056788077625	0.99981	0.98579	0.84315	D	AEFBI	0.726806	0.67535	D	0.870525614528207	0.90244	10.31627	0.865902557029683	0.93910	12.36699	0.999999999999998	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	6.176000	0.71885	2.287000	0.31935	0.599000	0.40250	1.000000	0.71638	0.986000	0.30841	1.000000	0.97212	0.0:1.0:0.0:0.0	20.644	0.99572	903	0.23940	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	4901.08	37	chr20	41423590	.	C	T	4901.08	.	AC=2;AF=0.048;AN=42;DP=870;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.17;SOR=0.872	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1291	20	1	0	0
chr20	42084829	42084829	C	T	exonic	PTPRT	.	nonsynonymous SNV	PTPRT:NM_007050:exon29:c.G3989A:p.R1330H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.998	D	0.946	D	0.000	D	1.000	D	1.575	L	2.23	T	-1.156	T	0.101	T	0.815	5.441	35	5.55	2.894	3.067	19.698	0.233	0.00338996923949	.	0.000199681	0.0002	0	0.0017	0.0001	0	6.233e-05	0	0	0.0001682	26	154602	rs528913627	9.502e-05	0.0001	9.592e-05	9.408e-05	0.0014	8.075e-05	7.613e-05	0.0011	0.0009	0.0001	0.0014	4.733e-05	5.759e-05	0	0	6.654e-05	5.64e-05	0	0.0001	0.0001	0.0002	8.056e-05	0.0003	7.572e-05	6.277e-05	0.0001	8.282e-05	4.809e-05	0	0.0003	0	0	0	0	0.0001	0	0.0002	0.104	0.33585	T	0.118	0.41573	T	0.998	0.73220	D	0.946	0.68276	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.175	0.60977	M	2.23	0.18083	T	-2.67	0.57110	D	0.373	0.42737	-1.1561	0.00855	T	0.101	0.37341	T	10	0.058723688	0.06948	T	0.00339	0.07603	T	0.233	0.53499	.	.	0.447033504574	0.44327	0.5911669334988208	0.59046	0.77805699904	0.65136	0.689614057541	0.65650	T	0.629812	0.88512	D	-0.291733	0.09462	T	-0.199094	0.54732	T	0.115681978375941	0.14003	T	0.947905	0.79907	D	0.25659755	0.48700	0.2558852	0.51279	0.25659755	0.48700	0.2558852	0.51278	-8.852	0.66765	D	0.21817682431821145	0.29376	0.296	0.60973	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.207480	0.87374	29.2	0.99935612248537742	0.99579	0.94435	0.61157	D	AEFBCI	0.657448	0.62907	D	0.640306665714284	0.75742	6.360174	0.649949807944201	0.78608	6.910365	0.999999991189163	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.55	5.55	0.83298	1.687000	0.37298	4.878000	0.45637	0.599000	0.40250	0.830000	0.30133	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	19.698	0.96034	850	0.35610	PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	750.98	35	chr20	42084829	.	C	T	750.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.27;DP=771;ExcessHet=0.0000;FS=2.305;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=0.597;SOR=1.052	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1420	20	0	1	0
chr20	42098502	42098502	G	T	exonic	PTPRT	.	nonsynonymous SNV	PTPRT:NM_007050:exon27:c.C3765A:p.N1255K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	1.88	L	2.43	T	-1.059	T	0.118	T	0.352	5.093	31	5.79	2.739	6.797	20.021	0.395	0.0194009319663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.033	0.53788	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.94	0.52218	M	2.43	0.15261	T	-3.95	0.73477	D	0.784	0.81360	-1.0586	0.12108	T	0.118	0.41538	T	10	0.63141596	0.68538	D	0.019401	0.41752	T	0.395	0.71004	0.597	0.72739	0.423782897388	0.41995	0.7946379199810907	0.79416	1.72144158089	0.90593	0.745367944241	0.73763	T	0.575575	0.86018	D	-0.11899	0.33289	T	-0.408697	0.32375	T	0.98704320192337	0.77620	D	0.962554	0.86020	D	0.6832533	0.77145	0.7209802	0.83525	0.6832533	0.77146	0.7209802	0.83526	-12.004	0.85311	D	0.5565047129737047	0.62459	0.737	0.74727	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.659503	0.74356	26.1	0.99874715758882393	0.95160	0.95345	0.64359	D	AEFDBHCI	0.899792	0.84458	D	0.806197101116686	0.86492	8.902982	0.808926188157454	0.90408	10.39333	0.999999999954122	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.79	5.79	0.91751	6.918000	0.75609	6.663000	0.56254	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.021	0.97498	798	0.45050	PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	896.98	33	chr20	42098502	.	G	T	896.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.774e+00;DP=754;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.47;ReadPosRankSum=-3.270e-01;SOR=0.686	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1040	20	0	1	0
chr20	42119955	42119955	C	T	exonic	PTPRT	.	nonsynonymous SNV	PTPRT:NM_007050:exon20:c.G2864A:p.R955Q	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.914	P	0.2	B	0.000	D	1.000	D	1.41	L	-1.75	D	-0.175	T	0.380	T	0.469	3.498	17.88	5.6	2.631	2.118	13.855	0.368	0.0645488525267	.	.	8.32e-06	0	0	0	0	1.503e-05	0	0	6.5e-06	1	154602	rs750813623	9.616e-06	9.577e-06	9.569e-06	9.664e-06	5.131e-05	5.58e-06	4.37e-06	8.5e-06	3.32e-06	0	0	0	5.131e-05	0	0	9.015e-06	1.663e-05	1.171e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.48186	D	0.079	0.42614	T	0.914	0.50529	P	0.2	0.36839	B	0.000000	0.84330	D	0.000000	0.999998	0.81001	D	1.755	0.45626	L	-1.75	0.83495	D	-0.62	0.18248	N	0.603	0.64648	-0.1748	0.78311	T	0.380	0.73670	T	10	0.352215	0.52054	T	0.064549	0.69312	D	0.368	0.68757	0.556	0.67409	0.474515700568	0.47080	0.7869361384526585	0.78645	1.71841895604	0.90533	0.801496624947	0.82191	T	0.285073	0.66737	T	-0.01728	0.49240	T	-0.161968	0.58175	T	0.860053658485413	0.51056	D	0.793521	0.43550	T	0.33073702	0.55531	0.15591542	0.36526	0.33073702	0.55531	0.15591542	0.36526	-8.753	0.67903	D	0.20098041481203704	0.26688	0.111	0.21987	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.411527	0.90581	31	0.9989877837351	0.97124	0.91075	0.52810	D	AEFI	0.246462	0.36721	N	0.320900202199364	0.57222	3.888806	0.403596477021575	0.61787	4.383987	0.00405633345190299	0.10397	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.6	5.6	0.84997	2.188000	0.42243	7.672000	0.64834	0.599000	0.40250	0.953000	0.33222	1.000000	0.68203	0.994000	0.71098	0.0:0.9269:0.0:0.0731	13.855	0.63019	834	0.38640	PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	658.98	39	chr20	42119955	.	C	T	658.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.200e-01;DP=780;ExcessHet=0.0000;FS=1.801;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.75;ReadPosRankSum=2.59;SOR=0.913	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1098	20	0	1	0
chr20	42885818	42885818	G	C	exonic	PTPRT	.	nonsynonymous SNV	PTPRT:NM_007050:exon2:c.C203G:p.A68G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.103	B	0.058	B	0.000	D	1.000	D	0.55	N	4.41	T	-0.682	T	0.008	T	0.599	3.739	18.98	5.76	2.741	7.395	19.611	0.225	0.0249546117373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.875e-07	1.368e-06	1.369e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	0.10180	T	0.384	0.15939	T	0.004	0.25884	B	0.015	0.26451	B	0.000004	0.62929	D	0.061071	0.999999	0.58761	D	0.045	0.08109	N	4.41	0.02196	T	-0.33	0.12472	N	0.418	0.53532	-0.6823	0.61266	T	0.008	0.02842	T	10	0.21221432	0.37673	T	0.024955	0.47943	T	0.225	0.52323	0.473	0.54859	0.223474106383	0.21959	0.47718421895636326	0.47638	1.04296655976	0.75860	0.653668403625	0.60507	T	0.032037	0.22312	T	-0.117498	0.33534	T	-0.406554	0.32622	T	0.712528586387634	0.41324	D	0.680032	0.28847	T	0.16046327	0.35990	0.22903074	0.47963	0.16046327	0.35989	0.22903074	0.47962	-6.873	0.53100	T	0.15890535582642282	0.19285	0.106	0.22171	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.344977	0.46112	22.2	0.99265785752128644	0.57390	0.95137	0.63574	D	AEFCI	0.916767	0.88343	D	0.0312348953504894	0.43280	2.624056	0.255864578791372	0.52984	3.469712	0.999997043830771	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.76	5.76	0.90726	7.697000	0.83509	11.752000	0.95431	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:1.0:0.0	19.611	0.95601	694	0.58444	MAM domain|MAM domain|MAM domain|MAM domain;MAM domain|MAM domain|MAM domain|MAM domain;MAM domain|MAM domain|MAM domain|MAM domain;MAM domain|MAM domain|MAM domain|MAM domain;MAM domain|MAM domain|MAM domain|MAM domain;MAM domain|MAM domain|MAM domain|MAM domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	760.98	67	chr20	42885818	.	G	C	760.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.329;DP=761;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=-3.260e-01;SOR=0.794	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1150	20	0	1	0
chr20	43514564	43514564	A	G	exonic	L3MBTL1	.	nonsynonymous SNV	L3MBTL1:NM_001377307:exon1:c.A20G:p.H7R	.	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.039	B	0.01	B	0.001	N	1.000	N	0	N	2.27	T	-1.022	T	0.023	T	0.13	1.409	10.65	1.37	0.398	-0.863	4.033	0.014	0.00883585119161	.	.	5.274e-05	0	0	0	0	0	0	0.0002	1.29e-05	2	154602	rs757452025	1.248e-05	1.3e-05	1.239e-05	1.257e-05	0.0003	7.8e-06	6.44e-06	7.352e-05	5.648e-05	0	0	0	0	0	0.0003	4.536e-06	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.529	0.15010	T	0.039	0.21116	B	0.01	0.14941	B	0.000878	0.00701	N	3.872860	1	0.08975	N	.	.	.	2.23	0.18083	T	-0.08	0.08187	N	0.049	0.04668	-1.0221	0.23031	T	0.023	0.09650	T	10	0.07290208	0.10945	T	0.008836	0.23318	T	0.014	0.01968	0.237	0.16760	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.006711	0.06137	T	-0.463862	0.00930	T	-0.634783	0.10053	T	0.417912662029266	0.29613	T	0.312769	0.06128	T	.	.	.	.	.	.	.	.	-1.469	0.01728	T	.	.	0.065	0.02200	B	.;.;.	.;.;.	0.283828	0.06604	3.098	0.63363483641327811	0.07204	0.01104	0.04047	N	ALL	0.042800	0.06686	N	-1.16229503645705	0.05580	0.254765	-1.19629817618575	0.05971	0.2860587	0.999999999997175	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	2.47	1.37	0.21200	-0.519000	0.06345	-0.224000	0.10736	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.8236:0.0:0.1764:0.0	4.033	0.09201	662	0.61715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	869.11	43	chr20	43514564	.	A	G	869.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.970e-01;DP=771;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.36;ReadPosRankSum=1.04;SOR=0.646	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,977	19	0	2	0
chr20	43514738	43514763	CCCCGGCGGGAGATGGCGAGGCGGGC	-	exonic	L3MBTL1	.	frameshift deletion	L3MBTL1:NM_001377307:exon1:c.194_219del:p.A67Tfs*21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.794e-05	0	0	0	0	8.277e-05	0	0	3.84e-05	1	26028	rs747623316	7.055e-06	6.84e-06	9.767e-06	4.282e-06	5.294e-05	3.57e-06	2.6e-06	8.77e-06	3.28e-06	3.045e-05	0	0	5.294e-05	0	0	6.426e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1146.94	62	chr20	43514737	.	GCCCCGGCGGGAGATGGCGAGGCGGGC	G	1146.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.550;DP=777;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.50;ReadPosRankSum=0.416;SOR=0.598	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,977	20	0	1	0
chr20	44118507	44118507	G	A	exonic	JPH2	.	nonsynonymous SNV	JPH2:NM_020433:exon3:c.C1286T:p.P429L,	Cardiomyopathy, hypertrophic, 17, Autosomal dominant	.	.	.	.	.	.	.	.	0.9984	0.904	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.998	D	0.000	D	1.000	D	2.23	M	-0.14	T	-0.130	T	0.429	T	0.765	4.986	29.2	4.97	2.301	8.797	17.006	0.479	0.240471729811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.852e-07	6.841e-07	0	1.377e-06	9e-07	0	0	.	.	0	0	0	0	0	0	9e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.39	0.68882	M	-0.14	0.65006	T	-7.21	0.94249	D	0.817	0.81261	-0.1298	0.79406	T	0.429	0.77179	T	10	0.8694502	0.86204	D	0.240472	0.88675	D	0.479	0.77012	0.311	0.28451	0.910233725849	0.90933	0.9492448281434115	0.94907	.	.	0.783362567425	0.79435	T	0.490174	0.81508	T	0.189597	0.72927	D	0.034566	0.72575	D	0.997765302658081	0.92364	D	0.976502	0.91818	D	0.7004121	0.78079	0.6134784	0.77507	0.7004121	0.78081	0.6134784	0.77508	-10.149	0.74799	D	.	.	0.965	0.88748	P	.	.	6.283449	0.94942	34	0.9988189295976132	0.95813	0.98013	0.78872	D	AEFDBI	0.962300	0.98385	D	0.81618193261053	0.87106	9.105391	0.780507955947695	0.88404	9.570349	0.999999997909374	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.97	4.97	0.65419	9.257000	0.94725	11.624000	0.93645	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.006	0.86266	607	0.67291	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1427.98	38	chr20	44118507	.	G	A	1427.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.323e+00;DP=798;ExcessHet=0.0000;FS=0.838;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.87;ReadPosRankSum=0.129;SOR=0.861	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1217	20	0	1	0
chr20	44258422	44258422	C	T	exonic	GDAP1L1	.	nonsynonymous SNV	GDAP1L1:NM_001256737:exon3:c.C419T:p.A140V,	.	.	420	1101	1	0	0	1	0.000453926	0	0.012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.000798722	0.0005	0.0047	0	0.0029	0	0	0	0	0.0001423	22	154602	rs372238773	9.681e-05	0.0001	0.0001	8.292e-05	0.0033	8.342e-05	7.79e-05	0.0028	0.0026	0.0033	0.0002	0	0	0	0	4.644e-06	0.0003	1.266e-05	0.0009	0.0009	0.0009	0.0009	0.0032	0.0008	0.0007	0.0028	0.0026	0.0032	0	0.0002	0	0	0	0	0	0	0	.	.	.	0.558	0.09175	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.173	0.18512	.	.	.	.	.	.	.	0.0074842274	0.00170	T	.	.	.	.	.	.	.	0.329540904979	0.32555	0.2965728742624957	0.29570	.	.	0.550864338875	0.45979	T	.	.	.	-0.501558	0.00560	T	-0.496595	0.22701	T	.	.	.	0.266073	0.04370	T	.	.	.	.	.	.	.	.	-4.124	0.25643	T	.	.	0.092	0.13597	B	.	.	1.700264	0.21659	15.29	0.88808531602799734	0.18272	0.00931	0.03609	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.00296240864714853	0.09834	0.085967	0.02239	2	0.063388	0.01293	0	0.174137	0.04171	1	0.062806	0.01542	0	0.152869	0.27579	4.98	-3.82	0.04000	0.862000	0.27553	-0.652000	0.08023	-1.673000	0.00797	0.000000	0.06391	0.000000	0.08366	0.466000	0.28252	0.0:0.5725:0.0:0.4275	11.556	0.50004	530	0.73653	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	727.98	34	chr20	44258422	.	C	T	727.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.900e-02;DP=773;ExcessHet=0.0000;FS=0.932;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.25;ReadPosRankSum=-2.270e-01;SOR=0.824	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,995	20	0	1	0
chr20	44390667	44390667	C	T	exonic	HNF4A	.	stopgain	HNF4A:NM_001287182:exon2:c.C28T:p.Q10X	Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, Autosomal dominant;MODY, type I, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99991	0.51042	D	.	.	.	.	.	.	.	.	.	0.622	0.63713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.473394	0.93464	D	0.442221	0.93382	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.229172	0.16240	12.41	0.87854779720909093	0.17531	0.12823	0.17501	N	AEFDBI	0.075496	0.15163	N	.	.	.	.	.	.	0.999321041388792	0.39149	0.032271	0.00213	1	0.059962	0.00310	0	0.056003	0.00319	0	0.058706	0.01089	0	.	.	4.01	2.02	0.25641	0.091000	0.14885	-0.662000	0.07976	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.997000	0.79791	0.1782:0.6264:0.1953:0.0	7.537	0.26883	415	0.81806	.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2111.08	33	chr20	44390667	.	C	T	2111.08	.	AC=2;AF=0.048;AN=42;DP=761;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.73;SOR=0.971	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1146	20	1	0	0
chr20	44406139	44406139	G	A	exonic	HNF4A	.	nonsynonymous SNV	HNF4A:NM_000457:exon2:c.G197A:p.R66Q	Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, Autosomal dominant;MODY, type I, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	905806	Monogenic_diabetes|Maturity_onset_diabetes_mellitus_in_young|not_provided	MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	1.895	L	-4.3	D	1.093	D	0.937	D	0.685	5.409	34	5.17	2.414	7.928	18.735	0.879	0.944980692852	.	0.000199681	2.479e-05	0	8.655e-05	0	0	0	0.0011	6.062e-05	2.59e-05	4	154602	rs561302824	2.395e-05	2.463e-05	1.362e-05	3.438e-05	0.0003	1.739e-05	1.539e-05	0.0002	0.0002	0	0	0	0	0	0	5.396e-06	3.313e-05	0.0003	6.565e-06	6.561e-06	1.285e-05	0	2.405e-05	0	0	.	.	2.405e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.003	0.76473	D	0.999	0.90584	D	0.972	0.77976	D	0.000238	0.47286	D	0.179482	0.999999	0.81001	D	1.365	0.34158	L	-4.3	0.97172	D	-3.49	0.68178	D	0.694	0.70527	1.093	0.99361	D	0.937	0.97934	D	10	0.91567564	0.90928	D	0.944981	0.99615	D	0.879	0.96428	0.759	0.88811	0.949233291065	0.94869	0.8825320018872927	0.88221	2.66830213671	0.98481	0.829861462116	0.86541	D	0.36787	0.99074	T	0.130951	0.67453	D	0.224625	0.84405	D	0.836733818054199	0.49063	D	0.968203	0.88767	D	0.82653296	0.85663	0.70704275	0.82726	0.82653296	0.85665	0.70704275	0.82727	-13.431	0.92375	D	0.6685701204761059	0.74318	0.768	0.77367	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	6.614376	0.95486	35	0.99950005326567803	0.99938	0.93985	0.59767	D	AEFDBCI	0.959759	0.98024	D	0.796528212300067	0.85890	8.712809	0.778689173862747	0.88275	9.521488	0.999999999999816	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.17	5.17	0.70848	8.054000	0.89239	11.769000	0.95814	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	18.735	0.91714	386	0.83455	.;.;.;Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type;Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type;.;Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1245.98	40	chr20	44406139	.	G	A	1245.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=875;ExcessHet=0.0000;FS=3.692;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=-5.190e-01;SOR=0.579	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr20	44719949	44719949	G	A	exonic	CCN5	.	nonsynonymous SNV	CCN5:NM_001323369:exon2:c.G113A:p.R38Q	.	.	427	1094	1	0	0	1	0.00045683	.	.	3292564	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.48	T	0.65	P	0.119	B	0.449	N	0.984	N	0.775	N	0.38	T	-1.059	T	0.075	T	0.393	0.142	4.761	1.25	0.010	1.874	6.985	0.149	0.0171681928142	0.0003	.	0.0001	0.0003	0	0	0	0.0001	0	6.3e-05	8.41e-05	13	154602	rs142450134	5.063e-05	5.062e-05	3.812e-05	6.327e-05	0.0003	4.126e-05	3.779e-05	0.0001	8.677e-05	0.0002	0	0	0	0	0.0003	5.037e-05	8.281e-05	3.479e-05	0.0001	0.0001	0.0002	0.0001	0.0003	8.665e-05	7.257e-05	0.0001	0.0001	0.0003	0	0	0	0	0	0	0.0001	0.0010	0	0.623	0.31682	T	0.198	0.27767	T	0.259	0.31472	B	0.027	0.21085	B	0.448622	0.12535	N	0.748495	0.98363	0.24868	N	0.915	0.23335	L	0.38	0.57575	T	-0.9	0.47008	N	0.177	0.28146	-1.0592	0.11956	T	0.075	0.30179	T	10	0.1224184	0.23222	T	0.017168	0.38759	T	0.149	0.39377	.	.	0.0884992946249	0.08302	0.28276754992337383	0.28189	0.263708629876	0.28926	0.256210744381	0.04449	T	0.059	0.30914	T	-0.306447	0.08065	T	-0.398532	0.33555	T	0.0194376364018392	0.00647	T	0.751225	0.43132	T	0.032245107	0.03213	0.032663926	0.02036	0.032245107	0.03212	0.032663926	0.02035	-4.994	0.46431	T	.	.	0.075	0.27939	B	.;.;.	.;.;.	2.027580	0.25767	16.88	0.92168037614814891	0.21531	0.58271	0.30597	D	AEFDGBI	0.303216	0.41125	N	-0.83490701020308	0.12424	0.605542	-0.780328621990213	0.14977	0.7854124	0.999991508832863	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.41	1.25	0.20475	1.357000	0.33694	-0.065000	0.12373	-0.799000	0.03183	0.082000	0.22389	0.000000	0.08366	0.010000	0.09038	0.2117:0.1252:0.6631:0.0	6.985	0.23905	448	0.79501	Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor-binding protein, IGFBP;.;Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor-binding protein, IGFBP	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1205.98	38	chr20	44719949	.	G	A	1205.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.99;DP=799;ExcessHet=0.0000;FS=3.650;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=-1.570e-01;SOR=0.712	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1287	20	0	1	0
chr20	44727357	44727357	C	G	exonic	CCN5	.	nonsynonymous SNV	CCN5:NM_001323369:exon3:c.C556G:p.P186A,	.	.	420	1077	24	1	0	26	0.0119266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.484	P	0.133	B	.	.	1.000	N	.	.	-0.52	T	-0.883	T	0.189	T	0.16	-0.128	3.374	1.39	0.544	0.377	5.050	0.094	.	0.0012	0.00259585	0.0043	0.0003	0.0037	0	0.0003	0.0043	0.0061	0.0119	0.0020375	315	154602	rs142405609	0.0016	0.0017	0.0015	0.0018	0.0223	0.0016	0.0016	0.0191	0.0179	0.0005	0.0015	0.0240	2.67e-05	3.968e-05	0.0223	0.0008	0.0036	0.0057	0.0016	0.0016	0.0017	0.0015	0.0056	0.0014	0.0014	0.0039	0.0034	0.0002	0	0.0008	0.0239	0	0	0.0170	0.0014	0.0066	0.0056	0.0	0.91255	D	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.52	0.70717	T	-0.66	0.19085	N	0.176	0.18920	-0.8830	0.49521	T	0.189	0.54079	T	8	0.0037848055	0.00071	T	.	.	.	0.094	0.27141	.	.	0.310458034454	0.30648	.	.	.	.	.	.	.	.	.	.	-0.427082	0.01544	T	-0.383082	0.35361	T	0.0364771452821099	0.03063	T	0.232477	0.03154	T	.	.	.	.	.	.	.	.	-3.405	0.15123	T	.	.	0.073	0.04681	B	.	.	0.410365	0.07812	4.505	0.26924644678525839	0.01312	0.11559	0.16714	N	AEFDGBHCI	0.092008	0.18630	N	-0.752703406160392	0.14559	0.7263035	-0.906077549568754	0.11950	0.6119481	0.999999924464166	0.74766	0.615755	0.39536	0	0.547309	0.14657	0	0.618376	0.41669	0	0.613276	0.41899	0	.	.	2.34	1.39	0.21325	0.453000	0.21523	0.646000	0.20366	0.389000	0.20474	0.021000	0.19753	0.000000	0.08366	0.005000	0.06747	0.0:0.8256:0.0:0.1744	5.050	0.13841	537	0.73184	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	803.98	33	chr20	44727357	.	C	G	803.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.400e-02;DP=753;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=1.05;SOR=0.584	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr20	45110447	45110447	C	T	exonic	WFDC5	.	nonsynonymous SNV	WFDC5:NM_145652:exon3:c.G320A:p.R107Q,	.	.	420	1101	1	0	0	1	0.000453926	.	.	2673085	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.936	D	0.118	N	1.000	N	2.865	M	-0.66	T	-0.459	T	0.495	T	0.574	3.830	19.45	3.15	1.145	1.217	6.654	0.407	0.0426597207867	.	.	7.058e-05	0	0.0007	0	0	1.792e-05	0	0	7.12e-05	11	154602	rs775000557	2.533e-05	2.531e-05	2.315e-05	2.752e-05	0.0004	1.869e-05	1.631e-05	0.0002	0.0002	0	0.0004	0	0	0	0.0002	1.439e-05	0	3.486e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	6.542e-05	2.18e-06	8.2e-07	.	.	0	0	6.542e-05	0	0	0	0	1.47e-05	0	0	0.01	0.56456	D	0.013	0.63109	D	0.998	0.73220	D	0.936	0.67150	D	0.118090	0.19128	N	0.383855	1	0.08975	N	2.91	0.84121	M	-0.66	0.72348	T	-2.0	0.46146	N	0.404	0.58629	-0.4588	0.70108	T	0.495	0.80854	T	10	0.20354077	0.36513	T	0.04266	0.60577	D	0.407	0.71946	0.607	0.73945	0.324436698001	0.32047	0.7790390423424332	0.77854	0.702345081028	0.61207	0.31824105978	0.13154	T	0.230834	0.59700	T	-0.190746	0.22149	T	-0.201251	0.54527	T	0.478926926851273	0.31858	T	0.751525	0.37371	T	0.23765095	0.46632	0.22799894	0.47827	0.23765095	0.46631	0.22799894	0.47826	-9.1	0.68337	D	.	.	0.461	0.62733	A	.;.	.;.	3.307256	0.45428	22.1	0.99857143181533381	0.93548	0.03144	0.08103	N	AEFDBI	0.060701	0.11554	N	0.0308695671510588	0.43264	2.623	-0.206753029767392	0.31292	1.769614	0.00359146817697056	0.10193	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.08	3.15	0.35301	1.404000	0.34232	3.183000	0.36666	0.549000	0.26987	0.018000	0.19461	0.991000	0.31484	0.166000	0.20848	0.0:0.7913:0.0:0.2087	6.654	0.22165	829	0.39537	WAP-type 'four-disulfide core' domain|WAP-type 'four-disulfide core' domain|WAP-type 'four-disulfide core' domain|WAP-type 'four-disulfide core' domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	657.98	36	chr20	45110447	.	C	T	657.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.00;DP=768;ExcessHet=0.0000;FS=0.910;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.40;ReadPosRankSum=-7.980e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1301	20	0	1	0
chr20	45221448	45221448	C	G	exonic	SEMG2	.	nonsynonymous SNV	SEMG2:NM_003008:exon1:c.C59G:p.A20G,	.	.	427	1094	1	0	0	1	0.00045683	.	.	2425244	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.994	D	.	.	1.000	N	2.16	M	2.6	T	-1.084	T	0.075	T	0.346	2.424	14.07	1.47	0.574	0.185	4.850	0.088	0.00159096094624	7.7e-05	.	0.0003	0	0	0	0	0.0003	0.0011	0.0008	0.0002264	35	154602	rs374965635	0.0001	0.0002	0.0001	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	0	0	0.0002	0	5.616e-05	0	0.0001	0.0002	0.0006	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0003	0	0	0	0.0003	0	9.425e-05	0	0.0004	0	0.0002	0.007	0.59928	D	0.0	0.92824	D	0.997	0.70673	D	0.994	0.82059	D	.	.	.	.	1	0.08975	N	2.25	0.63811	M	2.6	0.13204	T	-2.85	0.60029	D	0.234	0.26354	-1.0838	0.06628	T	0.075	0.30272	T	9	0.11221236	0.21040	T	0.001591	0.02548	T	0.088	0.25558	.	.	0.154104182512	0.14974	0.028440876803967643	0.02794	0.100621667693	0.11367	0.306913733482	0.11440	T	0.008294	0.07627	T	-0.452273	0.01095	T	-0.51635	0.20664	T	0.135841236652924	0.15912	T	0.754325	0.37688	T	0.2285665	0.45577	0.23799306	0.49111	0.2285665	0.45577	0.23799306	0.49110	-3.555	0.17211	T	.	.	0.455	0.62469	A	.	.	2.713635	0.35474	19.91	0.98968269152138499	0.49481	0.01495	0.04959	N	AEFBI	0.026352	0.01964	N	-0.180057984354179	0.33965	1.933126	-0.458011263843188	0.23322	1.271228	1.79699470148217E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	2.43	1.47	0.21832	0.187000	0.16806	0.087000	0.14465	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.268000	0.23719	0.0:0.8209:0.0:0.1791	4.850	0.12891	906	0.23090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	843.98	34	chr20	45221448	.	C	G	843.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.870e+00;DP=825;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.08;ReadPosRankSum=-1.860e-01;SOR=0.671	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1349	20	0	1	0
chr20	45221915	45221915	A	C	exonic	SEMG2	.	nonsynonymous SNV	SEMG2:NM_003008:exon2:c.A283C:p.K95Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.999	D	0.997	D	.	.	1.000	N	2.085	M	2.64	T	-1.059	T	0.068	T	0.123	1.445	10.77	-0.876	-0.312	-0.343	3.569	0.093	0.00101449227979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.035	0.52389	D	0.999	0.77913	D	0.997	0.86255	D	.	.	.	.	1	0.08975	N	2.28	0.64929	M	2.64	0.12780	T	-1.8	0.42384	N	0.14	0.13911	-1.0587	0.12083	T	0.068	0.27743	T	9	0.35977793	0.52637	T	0.001014	0.01096	T	0.093	0.26882	0.726	0.86024	0.227934060464	0.22382	0.04954772755484569	0.04897	0.102706332859	0.11620	0.326726287603	0.14439	T	0.00309	0.02494	T	-0.306412	0.08069	T	-0.677916	0.07112	T	0.189342826604843	0.19806	T	0.774523	0.40643	T	0.13739602	0.31815	0.056270942	0.10024	0.13739602	0.31815	0.056270942	0.10024	-3.436	0.15545	T	.	.	0.242	0.47622	B	.	.	1.343472	0.17504	13.20	0.95801988683030492	0.27860	0.01541	0.05062	N	AEFGBI	0.025653	0.01794	N	-0.427626988199434	0.24505	1.323605	-0.778560441311908	0.15021	0.7878849	5.64529560833593E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	1.07	-0.876	0.10086	-0.346000	0.07809	-0.036000	0.12731	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4735:0.0:0.5265:0.0	3.569	0.07462	906	0.23090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1914.98	156	chr20	45221915	.	A	C	1914.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.820e-01;DP=1611;ExcessHet=0.0000;FS=0.608;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=-4.510e-01;SOR=0.616	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1349	20	0	1	0
chr20	45222308	45222308	G	A	exonic	SEMG2	.	nonsynonymous SNV	SEMG2:NM_003008:exon2:c.G676A:p.V226M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.558	P	0.103	B	.	.	1.000	N	1.355	L	3.05	T	-1.000	T	0.015	T	0.083	0.015	4.090	-1.78	-0.407	-0.095	4.349	0.010	0.000634508176002	7.7e-05	.	1.652e-05	0.0002	0	0	0	0	0	0	3.23e-05	5	154602	rs368513832	7.867e-05	7.935e-05	7.895e-05	7.839e-05	9.802e-05	6.667e-05	6.201e-05	8.301e-05	7.719e-05	0	2.237e-05	0	0	1.872e-05	0	9.802e-05	3.312e-05	2.319e-05	9.198e-05	9.193e-05	8.993e-05	9.412e-05	0.0002	5.527e-05	4.364e-05	0.0001	8.45e-05	0.0002	0	0	0	0	0	0	7.348e-05	0	0	0.129	0.26852	T	0.11	0.37310	T	0.203	0.29776	B	0.031	0.21939	B	.	.	.	.	1	0.08975	N	1.52	0.38360	L	3.05	0.08721	T	-0.49	0.15578	N	0.175	0.18784	-1.0004	0.29803	T	0.015	0.05897	T	9	0.057528794	0.06621	T	6.35E-4	0.00319	T	0.010	0.01040	.	.	0.0401082797425	0.02173	0.030632605793975465	0.03012	0.025254443385	0.02574	0.320088505745	0.13434	T	9.0E-4	0.00463	T	-0.533732	0.00365	T	-0.767777	0.02842	T	0.0135432201542109	0.00249	T	0.638636	0.25202	T	0.02730711	0.01904	0.038513582	0.03738	0.02730711	0.01904	0.038513582	0.03738	-4.884	0.35555	T	.	.	0.252	0.48705	B	.	.	0.196299	0.05818	2.259	0.8801928245577918	0.17655	0.00042	0.00346	N	AEFGBI	0.012828	0.00152	N	-1.15672338180152	0.05670	0.2590893	-1.3282894177434	0.04068	0.1911366	7.77847318903493E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	1.38	-1.78	0.07527	-0.102000	0.10926	-0.367000	0.09633	-0.102000	0.15922	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5134:0.0:0.4866:0.0	4.349	0.10581	906	0.23090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	8722.08	156	chr20	45222308	.	G	A	8722.08	.	AC=2;AF=0.048;AN=42;DP=1741;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.49;SOR=0.889	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1349	20	1	0	0
chr20	45300966	45300966	C	A	exonic	MATN4	.	nonsynonymous SNV	MATN4:NM_030592:exon4:c.G687T:p.Q229H	.	.	.	.	.	.	.	.	.	.	.	3278117	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.37	T	0.883	P	0.724	P	0.099	N	1.000	D	0.705	N	-1.13	T	-0.515	T	0.378	T	0.527	3.192	16.69	5.19	2.937	0.675	15.090	0.393	0.00996316588514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.163e-05	1.163e-05	1.634e-05	6.876e-06	0.0016	7.08e-06	5.79e-06	0.0008	0.0006	0	2.236e-05	0	0	0	0.0016	2.698e-06	3.312e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.457	0.11334	T	0.48	0.11899	T	0.855	0.48537	P	0.724	0.55036	P	0.099235	0.19943	N	0.363990	0.99995	0.52396	D	1.165	0.29723	L	-1.13	0.77719	T	-2.41	0.54546	N	0.304	0.38129	-0.5146	0.68117	T	0.378	0.73520	T	10	0.24721831	0.41999	T	0.009963	0.25923	T	0.393	0.70844	0.486	0.56939	0.81854064889	0.81682	0.6919856270060782	0.69138	0.41752589699	0.42368	0.377506017685	0.21901	T	0.034595	0.23385	T	0.0148037	0.53678	T	-0.216512	0.53073	T	0.370979011058807	0.27835	T	0.466753	0.23084	T	0.3820124	0.59462	0.3304083	0.58910	0.3820124	0.59462	0.3304083	0.58909	-5.723	0.43897	T	0.1630530830077019	0.20067	0.142	0.31228	B	.;.;.;.;.	.;.;.;.;.	3.324279	0.45731	22.2	0.99559754682442958	0.71707	0.89500	0.50004	D	AEFDGBHCI	0.624360	0.60796	D	0.169111738299105	0.49720	3.169216	0.307787680368206	0.55995	3.762539	0.999999448738509	0.74766	0.696267	0.57585	0	0.600433	0.49495	0	0.691665	0.62940	0	0.584449	0.35598	0	.	.	6.14	5.19	0.71428	0.691000	0.25147	0.616000	0.20081	-0.177000	0.10537	0.999000	0.42656	0.998000	0.33993	0.990000	0.65344	0.0:0.9315:0.0:0.0685	15.090	0.71858	872	0.31118	.;EGF-like calcium-binding domain|EGF-like domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3300.98	41	chr20	45300966	.	C	A	3300.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=2188;ExcessHet=0.0000;FS=3.232;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=9.000e-03;SOR=0.886	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr20	45301396	45301396	C	A	exonic	MATN4	.	nonsynonymous SNV	MATN4:NM_003833:exon5:c.G691T:p.V231F,	.	.	405	1112	5	0	0	5	0.00224316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.025	B	0.067	B	0.969	N	1.000	N	2.135	M	-2.04	D	-0.355	T	0.465	T	0.362	3.047	16.17	-1.97	-0.190	-0.848	13.069	0.367	0.0768439853864	0.0044	0.00119808	0.0036	0.0011	0.0003	0	0.0032	0.0055	0.0034	0.0016	0.0037839	585	154602	rs117930972	0.0057	0.0057	0.0058	0.0056	0.0067	0.0056	0.0055	0.0066	0.0065	0.0008	0.0007	0.0068	2.519e-05	0.0028	0.0010	0.0067	0.0055	0.0017	0.0037	0.0037	0.0040	0.0033	0.0067	0.0034	0.0033	0.0062	0.0060	0.0010	0	0.0007	0.0037	0	0.0024	0	0.0067	0.0019	0.0012	.	.	.	0.094	0.74150	T	0.025	0.19245	B	0.067	0.27542	B	0.968753	0.07764	N	1.018930	0.999992	0.58761	D	2.545	0.74286	M	-2.04	0.85703	D	-2.83	0.67941	D	0.416	0.48411	-0.3547	0.73418	T	0.465	0.79312	T	10	0.012718618	0.00272	T	0.076844	0.72628	D	0.367	0.68670	.	.	0.892668404719	0.89160	0.6889472548172663	0.68834	0.695953659668	0.60835	0.265749633312	0.05595	T	0.30288	0.67526	T	-0.320911	0.06822	T	-0.229177	0.51851	T	0.0559947801699282	0.06523	T	0.918608	0.72522	D	0.6132814	0.73404	0.49997628	0.71091	0.7705081	0.82080	0.5902285	0.76226	-9.874	0.73154	D	0.16280921155331318	0.20020	0.098	0.17911	B	.;.;.	.;.;.	1.062064	0.14436	11.01	0.99397587918076391	0.62656	0.22043	0.21612	N	AEFGBCI	0.162276	0.28843	N	-0.681956351411724	0.16536	0.8433744	-0.736711168161613	0.16049	0.8471967	0.159306856334586	0.17567	0.646311	0.45356	0	0.491513	0.07743	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	5.89	-1.97	0.07091	-0.596000	0.05816	-10.178000	0.00730	-0.839000	0.02805	0.000000	0.06391	0.000000	0.08366	0.793000	0.37436	0.0:0.4902:0.0:0.5098	13.069	0.58462	872	0.31118	.;EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	969.98	41	chr20	45301396	.	C	A	969.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=819;ExcessHet=0.0000;FS=2.145;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.06;ReadPosRankSum=-2.650e-01;SOR=1.078	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr20	45375370	45375370	G	A	exonic	TP53TG5	.	nonsynonymous SNV	TP53TG5:NM_014477:exon4:c.C437T:p.A146V,	.	.	.	.	.	.	.	.	.	.	.	2346568	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.366	B	0.028	B	0.348	N	1.000	N	1.32	L	2.39	T	-1.010	T	0.029	T	0.056	2.147	13.14	-3.77	-0.775	-1.384	4.468	0.003	0.00512102204138	.	.	2.471e-05	0	0.0002	0	0	1.498e-05	0	0	1.94e-05	3	154602	rs778649036	1.026e-05	1.026e-05	1.225e-05	8.25e-06	6.708e-05	6.16e-06	4.89e-06	1.779e-05	8.93e-06	2.987e-05	6.708e-05	0	0	0	0	8.093e-06	3.311e-05	0	3.946e-05	3.941e-05	5.142e-05	2.693e-05	0.0003	1.717e-05	1.13e-05	0.0001	8.3e-05	2.416e-05	0	0.0003	0	0	0	0	0	0	0	0.153	0.24372	T	0.045	0.49390	D	0.366	0.34016	B	0.028	0.21332	B	0.347565	0.04225	N	1.384030	1	0.08975	N	0.49	0.13296	N	2.39	0.15724	T	-1.72	0.40850	N	0.039	0.01274	-1.0099	0.26949	T	0.029	0.12585	T	10	0.041754454	0.02860	T	0.005121	0.13001	T	0.003	0.00094	0.303	0.27164	0.0401082797425	0.02173	0.05702501367945709	0.05643	0.196960971911	0.22067	0.204035073519	0.00583	T	0.001676	0.01102	T	-0.51472	0.00472	T	-0.801289	0.01870	T	0.0269237471165514	0.01533	T	0.441756	0.12241	T	0.036654547	0.04550	0.043444358	0.05408	0.036654547	0.04550	0.043444358	0.05407	-3.583	0.17611	T	.	.	0.137	0.29779	B	.	.	0.019934	0.04423	1.156	0.96318138044948909	0.29403	0.01028	0.03857	N	AEFBI	0.019957	0.00742	N	-1.13004716982293	0.06115	0.280606	-1.26313880152989	0.04939	0.2341898	0.921337659733985	0.26668	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.72	-3.77	0.04062	-1.376000	0.02667	-0.803000	0.07366	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2892:0.0:0.2434:0.4675	4.468	0.11119	888	0.27761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3315.98	35	chr20	45375370	.	G	A	3315.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=974;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=-3.600e-02;SOR=0.693	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	20	0	1	0
chr20	45410061	45410061	G	A	exonic	DBNDD2	.	nonsynonymous SNV	DBNDD2:NM_001048225:exon3:c.G407A:p.G136E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.997	D	0.948	D	0.000	D	1.000	D	2.16	M	1.39	T	-0.785	T	0.184	T	0.568	3.644	18.53	3.78	0.772	6.298	10.339	0.261	0.033407182962	.	.	4.742e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs766869038	4.279e-06	6.156e-06	2.815e-06	5.781e-06	5.554e-06	1.54e-06	1.01e-06	2e-06	1.31e-06	0	0	0	0	0	0	5.554e-06	0	0	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.021	0.67890	D	0.997	0.70673	D	0.948	0.68536	D	0.000000	0.84330	D	0.000000	0.952339	0.58761	D	2.525	0.73725	M	1.39	0.36330	T	-3.9	0.72932	D	0.646	0.72299	-0.7846	0.56042	T	0.184	0.53255	T	10	0.7096874	0.72964	D	0.033407	0.54959	D	0.261	0.57352	0.603	0.73466	0.624195876753	0.62114	0.3179267085164732	0.31705	0.880300693374	0.69745	0.636281132698	0.58036	T	0.118604	0.43955	T	-0.00609395	0.50812	T	-0.24653	0.50159	T	0.980619509620434	0.73455	D	0.79722	0.44094	T	0.63185155	0.74397	0.6101987	0.77326	0.63185155	0.74398	0.6101987	0.77327	-4.16	0.31395	T	.	.	0.250	0.52679	B	.;.;.;.;.;.	.;.;.;.;.;.	4.373158	0.67350	25.1	0.99717662040234878	0.81773	0.92950	0.56948	D	AEFGBI	0.703992	0.65985	D	0.504815059918609	0.67373	5.073131	0.44100855517232	0.64141	4.662642	0.995459596941008	0.34136	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.72	3.78	0.42629	6.021000	0.70485	11.775000	0.95959	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.776000	0.36750	0.0:0.146:0.7019:0.152	10.339	0.43047	916	0.20744	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1219.98	97	chr20	45410061	.	G	A	1219.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.034;DP=914;ExcessHet=0.0000;FS=6.506;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.58;ReadPosRankSum=0.246;SOR=0.314	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	20	0	1	0
chr20	45841309	45841309	-	T	exonic	SNX21	.	stoploss	SNX21:NM_033421:exon4:c.1118_1119insT:p.*374delinsLTLA*,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.651e-05	0	0	0	0	4.784e-05	0.0013	0	6.5e-06	1	154602	rs746565501	4.289e-05	4.583e-05	2.682e-05	5.937e-05	0.0003	3.39e-05	3.051e-05	0.0002	0.0002	0	0	0	0	0	0	2.307e-05	0.0002	0.0003	3.939e-05	3.937e-05	2.569e-05	5.37e-05	0.0004	1.714e-05	1.129e-05	7.287e-05	3.028e-05	0	0	6.534e-05	0	0	0	0	4.41e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1118.94	39	chr20	45841309	.	A	AT	1118.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=793;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.63;ReadPosRankSum=0.033;SOR=0.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1047	20	0	1	0
chr20	45841313	45841313	-	G	exonic	SNX21	.	nonframeshift insertion	SNX21:NM_033421:exon4:c.1122_1123insG:p.X374delinsX,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.666e-05	0	0	0	0	4.796e-05	0.0013	0	6.5e-06	1	154602	rs770339693	4.323e-05	4.583e-05	2.698e-05	5.996e-05	0.0003	3.417e-05	3.074e-05	0.0002	0.0002	0	0	0	0	0	0	2.318e-05	0.0002	0.0003	3.94e-05	3.937e-05	2.57e-05	5.371e-05	0.0004	1.714e-05	1.129e-05	7.29e-05	3.029e-05	0	0	6.536e-05	0	0	0	0	4.411e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1121.94	39	chr20	45841313	.	A	AG	1121.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.672;DP=790;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.03;ReadPosRankSum=-4.020e-01;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1047	20	0	1	0
chr20	45843545	45843545	A	T	exonic	ACOT8	.	nonsynonymous SNV	ACOT8:NM_005469:exon5:c.T823A:p.C275S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.379	B	0.197	B	0.000	D	1.000	D	1.595	L	.	.	-0.749	T	0.214	T	0.757	3.092	16.33	5.03	2.118	6.782	14.945	0.287	0.00990003144916	.	0.000399361	0.0002	0	9.688e-05	0	0	0	0	0.0012	0.0001358	21	154602	rs562671523	5.832e-05	5.951e-05	3.136e-05	8.563e-05	0.0009	4.824e-05	4.444e-05	0.0007	0.0007	0	0	0	0	0	0	1.804e-06	8.311e-05	0.0009	2.626e-05	2.625e-05	0	5.37e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.442	0.09209	T	0.425	0.13912	T	0.379	0.34321	B	0.197	0.36707	B	0.000000	0.84330	D	0.044142	1	0.81001	D	1.485	0.37223	L	.	.	.	-1.7	0.40468	N	0.814	0.80964	-0.7490	0.57988	T	0.214	0.57521	T	9	0.2951527	0.47085	T	0.010	0.25788	T	0.287	0.60574	0.717	0.85230	0.583020407013	0.57975	0.689816950727762	0.68921	0.254296424506	0.27998	0.850188612938	0.89643	D	0.27738	0.65000	T	-0.117499	0.33534	T	0.0128924	0.71169	D	0.197578458091662	0.20282	T	0.938306	0.76795	D	0.31512246	0.54226	0.232002	0.48348	0.31512246	0.54226	0.232002	0.48347	-8.521	0.64568	D	.	.	0.618	0.69604	P	.	.	3.320935	0.45673	22.2	0.94067212851173754	0.24206	0.95040	0.63219	D	AEFGBCI	0.919727	0.89067	D	0.141771936591017	0.48421	3.054742	0.266098481451985	0.53570	3.525331	0.999999999999663	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.03	5.03	0.67015	6.756000	0.74715	11.198000	0.88920	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	1.0:0.0:0.0:0.0	14.945	0.70669	798	0.45050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1227.98	37	chr20	45843545	.	A	T	1227.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=841;ExcessHet=0.0000;FS=4.790;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=-6.500e-01;SOR=0.360	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1246	20	0	1	0
chr20	45857313	45857313	-	ATCT	exonic	ACOT8	.	startloss	ACOT8:NM_005469:exon1:c.2_3insAGAT:p.M1?,	.	.	425	1040	53	4	0	61	0.0284914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.029353	0.0253	0.0006	0.0021	0.0353	0.0008	0.0044	0.0100	0.1046	0.0014215	37	26028	rs201025211	0.0089	0.0090	0.0066	0.0112	0.0854	0.0087	0.0087	0.0838	0.0831	0.0011	0.0011	0.0061	0.0228	0.0003	0.0110	0.0033	0.0133	0.0854	0.0058	0.0059	0.0046	0.0072	0.0886	0.0055	0.0054	0.0817	0.0790	0.0005	0	0.0014	0.0084	0.0286	0	0.0204	0.0032	0.0099	0.0886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4857.64	34	chr20	45857313	.	C	CATCT	4857.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.298;DP=879;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=20.32;ReadPosRankSum=0.126;SOR=0.691	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1045	18	0	3	0
chr20	45882618	45882618	G	A	exonic	ZSWIM1	.	stopgain	ZSWIM1:NM_080603:exon2:c.G26A:p.W9X,	.	.	426	1062	32	2	0	36	0.0166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	0.411	6.234	0.395	0.001	-0.105	1.969	.	.	0.0073	0.0113818	0.0124	0.0010	0.0091	0.0186	0.0169	0.0124	0.0155	0.0169	0.0117528	1817	154602	rs35972756	0.0098	0.0098	0.0096	0.0100	0.0195	0.0097	0.0096	0.0183	0.0179	0.0014	0.0103	0.0218	0.0195	0.0146	0.0106	0.0085	0.0126	0.0162	0.0096	0.0096	0.0087	0.0105	0.0208	0.0092	0.0090	0.0177	0.0165	0.0015	0	0.0190	0.0204	0.0208	0.0136	0	0.0096	0.0151	0.0191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.021	0.00717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.351716	0.04619	T	-0.263056	0.48519	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	4.627757	0.73545	26.0	0.95134398399677056	0.26249	0.11612	0.16748	N	AEFBHCI	0.023084	0.01239	N	0.12119468821662	0.47453	2.970763	-0.264984269874491	0.29260	1.637906	0.999398291110507	0.39470	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.78	0.395	0.15527	-0.100000	0.10959	1.330000	0.25662	0.676000	0.76740	0.000000	0.06391	0.002000	0.18203	0.177000	0.21203	0.1789:0.1315:0.5012:0.1884	1.969	0.03194	758	0.50837	.;.	TNNC2	Small_Intestine_Terminal_Ileum	.	.	rs35972756	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	986.98	35	chr20	45882618	.	G	A	986.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.422e+00;DP=821;ExcessHet=0.0000;FS=1.654;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.58;ReadPosRankSum=1.14;SOR=0.525	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,99,1373	20	0	1	0
chr20	45883443	45883443	G	A	exonic	ZSWIM1	.	nonsynonymous SNV	ZSWIM1:NM_080603:exon2:c.G851A:p.R284H,	.	.	422	1065	33	2	0	37	0.0170743	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.796	P	0.23	B	0.901	U	1.000	N	0.55	N	1.85	T	-1.014	T	0.019	T	0.033	1.418	10.68	-1.7	-0.164	-2.009	10.617	0.075	.	0.0073	0.0113818	0.0123	0.0010	0.0091	0.0186	0.0169	0.0123	0.0154	0.0164	0.0116622	1803	154602	rs45447691	0.0098	0.0098	0.0096	0.0100	0.0197	0.0097	0.0096	0.0186	0.0181	0.0014	0.0104	0.0218	0.0197	0.0146	0.0106	0.0085	0.0126	0.0163	0.0096	0.0096	0.0087	0.0104	0.0206	0.0092	0.0090	0.0175	0.0166	0.0015	0	0.0191	0.0205	0.0206	0.0136	0.0034	0.0096	0.0152	0.0190	0.152	0.24468	T	0.065	0.44702	T	0.796	0.44790	P	0.23	0.38212	B	0.901040	0.07356	U	1.066210	1	0.08975	N	1.79	0.46772	L	1.85	0.24472	T	-0.69	0.19720	N	0.021	0.00339	-1.0143	0.25561	T	0.019	0.07846	T	10	0.0032221675	0.00055	T	.	.	.	0.075	0.21907	.	.	.	.	0.21869424538490634	0.21785	0.32327001024	0.34494	0.188551545143	0.00200	T	0.00566	0.05109	T	-0.694842	0.00039	T	-0.755933	0.03260	T	0.00827551918317233	0.00099	T	0.539346	0.18229	T	0.030798016	0.02804	0.039428506	0.04033	0.030798016	0.02804	0.039428506	0.04033	-3.14	0.11761	T	.	.	0.072	0.04198	B	.;.	.;.	0.535556	0.09040	5.825	0.94430154548453726	0.24844	0.03520	0.08703	N	AEFBHCI	0.025201	0.01688	N	-0.808238093688282	0.13099	0.6429756	-0.8837003979805	0.12479	0.6421809	0.999738495395858	0.42341	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.27	-1.7	0.07721	-1.574000	0.02237	-0.782000	0.07450	-0.127000	0.13314	0.000000	0.06391	0.000000	0.08366	0.982000	0.59238	0.6029:0.0:0.3971:0.0	10.617	0.44646	758	0.50837	.;.	TNNC2	Small_Intestine_Terminal_Ileum	.	.	rs45447691	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3520.98	44	chr20	45883443	.	G	A	3520.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.06;DP=1108;ExcessHet=0.0000;FS=1.980;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.53;ReadPosRankSum=0.589;SOR=0.635	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,99,1373	20	0	1	0
chr20	45883833	45883833	C	T	exonic	ZSWIM1	.	nonsynonymous SNV	ZSWIM1:NM_080603:exon2:c.C1241T:p.P414L,	.	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.85	P	0.084	B	0.497	U	1.000	N	0.695	N	1.92	T	-1.083	T	0.033	T	0.511	0.328	5.780	3.37	0.773	1.741	10.708	0.099	0.00540328355272	.	.	7.466e-05	0	0	0	0	0	0	0.0005	5.82e-05	9	154602	rs761821569	4.448e-05	4.446e-05	2.86e-05	6.052e-05	0.0005	3.576e-05	3.258e-05	0.0004	0.0004	2.987e-05	0	0	0	0	0	1.349e-05	3.312e-05	0.0005	6.573e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.102	0.30235	T	0.073	0.43159	T	0.85	0.46913	P	0.084	0.29270	B	0.496837	0.11995	U	0.703243	1	0.08975	N	0.805	0.20218	L	1.92	0.23082	T	-1.44	0.35399	N	0.36	0.44090	-1.0833	0.06720	T	0.033	0.14029	T	10	0.07686791	0.12061	T	0.005403	0.13862	T	0.099	0.28413	0.434	0.48500	0.218112801441	0.21410	0.502110383489433	0.50133	0.295907360393	0.31983	0.49292755127	0.37845	T	0.003536	0.02940	T	-0.363324	0.03946	T	-0.410235	0.32198	T	0.0509814559330153	0.05672	T	0.816918	0.47330	T	0.06546591	0.13992	0.06342844	0.12561	0.06546591	0.13992	0.06342844	0.12561	-6.945	0.53632	T	.	.	0.102	0.21390	B	.;.	.;.	2.097395	0.26686	17.20	0.93294515554681823	0.23003	0.80891	0.40416	D	AEFDBCI	0.088465	0.17935	N	-0.191450375692899	0.33489	1.900547	-0.162424516656279	0.32932	1.87863	0.999986303743719	0.51787	0.722319	0.85440	0	0.698795	0.70079	0	0.697927	0.64325	0	0.636168	0.56350	0	.	.	5.36	3.37	0.37692	0.942000	0.28615	3.013000	0.35970	0.599000	0.40250	0.375000	0.25965	1.000000	0.68203	0.533000	0.29776	0.4216:0.4681:0.1103:0.0	10.708	0.45164	758	0.50837	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1559.98	44	chr20	45883833	.	C	T	1559.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.90;DP=967;ExcessHet=0.0000;FS=0.643;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=-3.540e-01;SOR=0.802	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,99,1373	20	0	1	0
chr20	45902564	45902564	C	T	exonic	PLTP	.	nonsynonymous SNV	PLTP:NM_001242920:exon9:c.G698A:p.R233Q	.	.	416	1102	4	0	0	4	0.00181159	.	.	2125665	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.64	T	0.021	B	0.005	B	0.410	N	1.000	N	-0.41	N	3.04	T	-0.910	T	0.009	T	0.11	-0.610	1.282	-1.02	-0.026	0.524	9.885	0.015	0.00998828515733	0.0002	.	0.0002	0.0001	0.0006	0	0	0.0003	0	0	0.000194	30	154602	rs200022812	0.0002	0.0002	0.0002	0.0002	0.0049	0.0002	0.0002	0.0035	0.0030	0.0002	0.0004	0.0008	0	0	0.0049	0.0002	0.0003	9.276e-05	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	8.72e-05	0.0001	0.0001	7.238e-05	0	6.547e-05	0.0009	0	0	0	0.0002	0	0.0002	0.711	0.12469	T	0.897	0.03409	T	0.017	0.18474	B	0.001	0.11217	B	0.409696	0.13014	N	0.761820	1	0.08975	N	-0.205	0.04094	N	3.04	0.08810	T	0.69	0.02195	N	0.102	0.08506	-0.9098	0.46879	T	0.009	0.03271	T	10	0.012835592	0.00274	T	0.009988	0.25990	T	0.015	0.02232	.	.	0.110078149338	0.10416	0.37788755526212847	0.37703	0.210666846013	0.23558	0.229070320725	0.01900	T	0.110795	0.42577	T	-0.561181	0.00250	T	-0.715913	0.04995	T	0.00294897379353642	0.00031	T	0.791221	0.46699	T	0.03434065	0.03834	0.04002881	0.04233	0.03434065	0.03834	0.04002881	0.04233	-3.836	0.32159	T	.	.	0.067	0.02578	B	.;.;.;.;.	.;.;.;.;.	0.210313	0.05940	2.379	0.69996821691399325	0.09152	0.05437	0.11312	N	AEFDBHCI	0.136815	0.25760	N	-1.31721614383018	0.03478	0.155431	-1.27346347091075	0.04792	0.2269054	0.948729943756921	0.27813	0.67177	0.52595	0	0.643519	0.57511	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.28	-1.02	0.09618	0.298000	0.18874	-0.216000	0.10808	0.599000	0.40250	0.002000	0.15269	0.000000	0.08366	0.404000	0.26872	0.0:0.3856:0.0:0.6144	9.885	0.40427	746	0.52331	.;.;Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal;Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1167.98	38	chr20	45902564	.	C	T	1167.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=815;ExcessHet=0.0000;FS=2.149;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.69;ReadPosRankSum=1.53;SOR=1.025	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr20	45902579	45902579	A	G	exonic	PLTP	.	nonsynonymous SNV	PLTP:NM_001242920:exon9:c.T683C:p.L228S	.	.	413	1105	4	0	0	4	0.00180668	.	.	2125666	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.993	D	0.899	P	0.023	N	1.000	D	1.7	L	2.72	T	-1.130	T	0.078	T	0.831	4.863	27.8	5.28	2.224	7.967	15.368	0.356	0.0254123040335	0.0002	.	0.0002	0.0001	0.0007	0	0	0.0003	0	0	0.0001876	29	154602	rs373772930	0.0002	0.0002	0.0002	0.0002	0.0047	0.0002	0.0002	0.0033	0.0028	0.0001	0.0004	0.0008	0	0	0.0047	0.0002	0.0003	6.963e-05	0.0001	0.0001	0.0001	0.0002	0.0002	9.746e-05	8.26e-05	0.0001	9.898e-05	7.238e-05	0	6.545e-05	0.0009	0	0	0	0.0002	0	0.0002	0.002	0.78490	D	0.002	0.79402	D	0.903	0.54400	P	0.67	0.61067	P	0.022956	0.26535	N	0.407025	0.999949	0.51968	D	1.995	0.54099	M	2.72	0.11947	T	-3.12	0.65742	D	0.821	0.82862	-1.1300	0.01782	T	0.078	0.30982	T	10	0.58454746	0.66036	D	0.025412	0.48380	D	0.356	0.67691	.	.	0.297718772494	0.29385	0.9078265415922561	0.90755	0.840301574103	0.68028	0.437705457211	0.30264	T	0.284982	0.65777	T	-0.109378	0.34873	T	-0.0669296	0.65845	T	0.201122060418129	0.20477	T	0.80342	0.45053	T	0.52503735	0.68548	0.6038986	0.76979	0.52503735	0.68549	0.6038986	0.76980	-7.915	0.64871	D	.	.	0.806	0.80654	P	.;.;.;.;.	.;.;.;.;.	4.653086	0.74191	26.1	0.99872704583222549	0.94989	0.97343	0.74151	D	AEFDBHCI	0.946221	0.95542	D	0.690199694912738	0.78989	6.984191	0.697879424623058	0.82219	7.71287	0.999999998418781	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	7.393000	0.79126	11.165000	0.87778	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	1.0:0.0:0.0:0.0	15.368	0.74254	746	0.52331	.;.;Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal;Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	919.98	38	chr20	45902579	.	A	G	919.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.600e-02;DP=804;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.14;ReadPosRankSum=1.66;SOR=0.795	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr20	45905066	45905066	A	G	exonic	PLTP	.	nonsynonymous SNV	PLTP:NM_001242920:exon7:c.T473C:p.V158A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.93	T	0.711	P	0.378	B	0.002	N	0.984	D	1.79	L	2.86	T	-1.021	T	0.024	T	0.612	3.030	16.11	4.14	0.810	2.683	4.397	0.222	0.0126150514693	.	.	8.272e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs771423390	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.33091	T	0.364	0.16865	T	0.374	0.35540	B	0.26	0.43788	B	0.001715	0.38216	N	0.258488	0.983509	0.40023	D	1.7	0.43825	L	2.86	0.10482	T	0.4	0.07882	N	0.444	0.49420	-1.0207	0.23486	T	0.024	0.10374	T	10	0.18185669	0.33438	T	0.012615	0.31334	T	0.222	0.51872	.	.	0.0666544352282	0.05500	0.5132361950268223	0.51245	0.475521757077	0.46723	0.501273393631	0.39006	T	0.090821	0.38665	T	-0.0957885	0.37121	T	-0.37537	0.36262	T	0.283458830840346	0.24316	T	0.750125	0.37153	T	0.08051663	0.18453	0.06932325	0.14591	0.08051663	0.18453	0.06932325	0.14591	-4.321	0.28470	T	.	.	0.102	0.18206	B	.;.;.;.;.	.;.;.;.;.	2.942375	0.39128	20.9	0.99507266027073271	0.68381	0.77004	0.37815	D	AEFDBCI	0.273573	0.38895	N	-0.120924922246166	0.36482	2.109356	-0.0264277086207832	0.38525	2.270997	0.999910618459844	0.45857	0.67177	0.52595	0	0.694456	0.67091	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.25	4.14	0.47821	2.861000	0.48079	6.865000	0.56773	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.702:0.0:0.15:0.148	4.397	0.10800	746	0.52331	.;.;Lipid-binding serum glycoprotein, C-terminal;Lipid-binding serum glycoprotein, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1223.98	98	chr20	45905066	.	A	G	1223.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.590e-01;DP=790;ExcessHet=0.0000;FS=0.777;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=0.995;SOR=0.593	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1060	20	0	1	0
chr20	45911398	45911398	A	G	exonic	PLTP	.	nonsynonymous SNV	PLTP:NM_001242920:exon2:c.T55C:p.F19L	.	.	410	1101	11	0	0	11	0.00497063	.	.	1398427	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.0	B	0.126	N	1.000	N	-0.69	N	3.32	T	-0.907	T	0.008	T	0.058	1.132	9.612	0.154	0.248	0.505	8.845	0.019	0.0175334079198	0.0011	.	0.0009	0	0.0006	0	0.0003	0.0013	0.0011	0.0005	0.0008603	133	154602	rs151157782	0.0009	0.0009	0.0009	0.0009	0.0064	0.0008	0.0008	0.0048	0.0042	8.961e-05	0.0009	3.827e-05	0	0.0003	0.0064	0.0009	0.0011	0.0007	0.0008	0.0009	0.0008	0.0008	0.0014	0.0007	0.0007	0.0012	0.0011	0.0002	0.0022	0.0009	0	0	0.0002	0.0103	0.0014	0.0024	0.0004	0.8	0.03857	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.126087	0.18818	N	0.584072	0.99774	0.22531	N	-1.1	0.00987	N	3.32	0.08194	T	-0.18	0.09796	N	0.071	0.04426	-0.9070	0.47215	T	0.008	0.02679	T	10	0.009560227	0.00215	T	0.017533	0.39265	T	0.019	0.03383	.	.	0.0611884634855	0.05136	0.18551132663453296	0.18469	0.209172351844	0.23389	0.524680316448	0.42286	T	0.148137	0.48654	T	-0.656516	0.00066	T	-0.751194	0.03439	T	0.0133911104550311	0.00242	T	0.560444	0.22282	T	0.05517205	0.10687	0.07135434	0.15271	0.05517205	0.10686	0.07135434	0.15271	-1.887	0.02781	T	.	.	0.152	0.34361	B	.;.;.;.	.;.;.;.	1.810042	0.23000	15.85	0.83353672026949743	0.14680	0.42993	0.27000	N	ALL	0.062951	0.12134	N	-0.921091452221207	0.10350	0.4941398	-0.719688291930103	0.16471	0.8714683	0.99999999995488	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.2	0.154	0.14196	0.689000	0.25118	3.115000	0.36376	-0.156000	0.11795	0.991000	0.37257	1.000000	0.68203	0.959000	0.51448	0.0773:0.0:0.4171:0.5056	8.845	0.34325	737	0.53483	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	1531.11	67	chr20	45911398	.	A	G	1531.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.49;DP=834;ExcessHet=0.1072;FS=0.618;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.51;ReadPosRankSum=-1.210e-01;SOR=0.761	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1133	19	0	2	0
chr20	45957596	45957596	G	T	exonic	ZNF335	.	nonsynonymous SNV	ZNF335:NM_022095:exon17:c.C2432A:p.T811K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.066	B	0.022	B	0.006	N	1.000	N	0.695	N	3.22	T	-0.964	T	0.015	T	0.282	2.386	13.94	5.26	2.735	6.159	12.207	0.124	0.00276685252069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.119	0.36101	T	0.039	0.21116	B	0.01	0.14941	B	0.005610	0.32654	N	0.327233	1	0.08975	N	0	0.06538	N	3.22	0.07024	T	0.01	0.06868	N	0.342	0.38335	-0.9643	0.38350	T	0.015	0.05801	T	10	0.1474508	0.27939	T	0.002767	0.05752	T	0.124	0.34239	0.577	0.70217	0.345405024496	0.34151	0.28686134796448826	0.28599	0.196285667944	0.21984	0.445617556572	0.31346	T	0.054606	0.29771	T	-0.203479	0.20304	T	-0.53006	0.19281	T	0.449058651924133	0.30763	T	0.79972	0.44511	T	0.082182504	0.18921	0.11390612	0.27493	0.082182504	0.18920	0.11390612	0.27492	-7.899	0.60380	D	0.09110482883696963	0.05744	0.153	0.33800	B	.	.	3.894942	0.56694	23.8	0.97932905495435785	0.36971	0.89022	0.49244	D	AEFBCI	0.314354	0.41924	N	-0.265560390904939	0.30487	1.700394	-0.0929381036160044	0.35680	2.067217	0.0456941880195742	0.14662	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	5.26	0.73479	4.509000	0.60168	9.884000	0.82221	0.676000	0.76740	0.771000	0.29368	1.000000	0.68203	0.999000	0.91618	0.0:0.185:0.815:0.0	12.207	0.53669	747	0.52260	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	271.98	51	chr20	45957596	.	G	T	271.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.93;DP=745;ExcessHet=0.0000;FS=2.735;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.33;ReadPosRankSum=1.07;SOR=1.255	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1312	20	0	1	0
chr20	46186653	46186653	C	T	exonic	CDH22	.	nonsynonymous SNV	CDH22:NM_021248:exon10:c.G1598A:p.R533H,	.	.	430	1081	10	1	0	12	0.00551978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.004	B	0.002	B	0.000	D	0.573	N	0.465	N	0.71	T	-1.011	T	0.068	T	0.184	0.593	7.196	3.43	0.844	0.903	11.322	0.095	0.0245251552206	0.0025	0.00159744	0.0022	0.0005	0.0055	0	0.0009	0.0024	0.0022	0.0018	0.0022057	341	154602	rs117065621	0.0037	0.0037	0.0040	0.0035	0.0058	0.0036	0.0036	0.0052	0.0050	0.0006	0.0058	7.653e-05	2.519e-05	0.0004	0.0022	0.0042	0.0052	0.0020	0.0031	0.0031	0.0029	0.0033	0.0118	0.0029	0.0028	0.0104	0.0098	0.0009	0	0.0118	0	0.0004	9.418e-05	0	0.0035	0.0043	0.0023	0.719	0.03937	T	0.525	0.10281	T	0.004	0.12183	B	0.002	0.06944	B	0.000472	0.44119	D	0.200609	0.573016	0.31163	N	0.18	0.09070	N	0.71	0.51228	T	-1.91	0.44471	N	0.238	0.26957	-1.0109	0.26635	T	0.068	0.27845	T	10	0.009097874	0.00206	T	0.024525	0.47518	T	0.095	0.27398	.	.	0.53177700221	0.52827	0.37455247236477	0.37369	.	.	0.478638410568	0.35869	T	0.029391	0.21072	T	-0.542079	0.00326	T	-0.549654	0.17360	T	0.0259094372600592	0.01394	T	0.89621	0.63821	D	0.073304094	0.16371	0.07105437	0.15169	0.073304094	0.16371	0.07105437	0.15168	-7.22	0.55625	T	.	.	0.078	0.06710	B	.;.	.;.	2.771842	0.36384	20.2	0.58849105272604574	0.06087	0.77047	0.37841	D	AEFBI	0.324784	0.42657	N	-0.521138146981949	0.21398	1.135251	-0.340731177658341	0.26797	1.482509	0.00331081076299654	0.10046	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.38	3.43	0.38372	0.938000	0.28562	0.623000	0.20150	0.577000	0.29297	0.993000	0.37899	0.998000	0.33993	0.990000	0.65344	0.0:0.909:0.0:0.091	11.322	0.48667	510	0.75209	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1278.98	33	chr20	46186653	.	C	T	1278.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.540e-01;DP=791;ExcessHet=0.0000;FS=1.602;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=-1.441e+00;SOR=0.529	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1302	20	0	1	0
chr20	46199452	46199452	T	C	exonic	CDH22	.	nonsynonymous SNV	CDH22:NM_021248:exon8:c.A1394G:p.H465R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	3.305	M	0.67	T	-0.152	T	0.363	T	0.79	3.222	16.80	4.47	2.000	5.861	11.925	0.489	0.0518505245748	.	.	8.669e-06	0	0	0	0	0	0	6.363e-05	6.5e-06	1	154602	rs770412979	6.846e-07	1.368e-06	0	1.376e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	6.57e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.008	0.58626	D	0.01	0.65728	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.053788	0.999993	0.58761	D	3.48	0.92553	M	0.67	0.52187	T	-6.68	0.92391	D	0.911	0.91276	-0.1516	0.78877	T	0.363	0.72384	T	10	0.8514197	0.84322	D	0.051851	0.64833	D	0.489	0.77656	0.582	0.70861	0.677105117572	0.67436	0.9482796163378782	0.94810	.	.	0.828103363514	0.86273	D	0.217231	0.57962	T	0.0792363	0.61952	D	-0.023329	0.68809	D	0.978212773799896	0.72217	D	0.960304	0.85063	D	0.7438123	0.80511	0.77048916	0.86449	0.7438123	0.80513	0.77048916	0.86450	-11.282	0.81182	D	.	.	0.739	0.74565	P	.;.	.;.	5.079783	0.84770	28.4	0.99603997810075495	0.74397	0.89992	0.50829	D	AEFDBHCI	0.847025	0.76389	D	0.646211707740998	0.76124	6.428906	0.501731178967801	0.68107	5.17464	0.999999999969719	0.74766	0.59774	0.34471	0	0.578056	0.33634	0	0.239995	0.05000	1	0.63947	0.58350	0	.	.	4.47	4.47	0.53770	5.822000	0.68949	7.771000	0.68472	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	11.925	0.52100	506	0.75555	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	935.98	38	chr20	46199452	.	T	C	935.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.849;DP=779;ExcessHet=0.0000;FS=2.968;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=1.37;SOR=1.056	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1186	20	0	1	0
chr20	46350521	46350521	T	C	exonic	SLC35C2	.	nonsynonymous SNV	SLC35C2:NM_001281457:exon10:c.A629G:p.D210G	.	.	422	1088	12	0	0	12	0.00548446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.001	B	0.001	B	0.006	N	0.939	D	0.205	N	0.93	T	-0.897	T	0.150	T	0.249	2.192	13.29	3.54	0.820	1.313	7.909	0.030	0.0086109082072	0.0021	0.00179712	0.0021	0.0003	0.0016	0	0.0018	0.0030	0.0023	0.0011	0.0018758	290	154602	rs143795303	0.0018	0.0018	0.0018	0.0018	0.0053	0.0018	0.0017	0.0038	0.0033	6.192e-05	0.0014	0.0162	0	0.0011	0.0053	0.0016	0.0029	0.0013	0.0015	0.0015	0.0015	0.0015	0.0020	0.0013	0.0013	0.0015	0.0014	0.0001	0	0.0020	0.0179	0	0.0005	0.0102	0.0017	0.0024	0.0002	0.163	0.23450	T	0.378	0.28032	T	0.0	0.02946	B	0.0	0.01387	B	0.006365	0.32080	N	0.257775	0.938683	0.37234	D	1.01	0.25309	L	.	.	.	-1.4	0.34596	N	0.151	0.16586	-0.8973	0.48264	T	0.150	0.47681	T	10	0.0027718544	0.00043	T	0.008611	0.22755	T	0.030	0.07022	.	.	0.151104730317	0.14643	0.38103868468112606	0.38018	0.41808778898	0.42406	0.356770187616	0.18914	T	0.044574	0.26857	T	-0.455216	0.01052	T	-0.432211	0.29685	T	0.00793546066681542	0.00093	T	0.746125	0.37642	T	0.1882468	0.40314	0.08651374	0.20048	0.1882468	0.40314	0.08651374	0.20048	-1.853	0.02672	T	.	.	0.058	0.00693	B	.;.;.;.;.	.;.;.;.;.	2.308493	0.29544	18.16	0.9667532234322993	0.30679	0.63907	0.32236	D	ALL	0.157506	0.28302	N	-0.533987106294768	0.20989	1.110562	-0.377810688370747	0.25660	1.412503	0.999999999999923	0.74766	0.741868	0.97996	0	0.749866	0.99406	0	0.774882	0.98623	0	0.648885	0.59868	0	.	.	4.63	3.54	0.39650	1.369000	0.33832	3.394000	0.38086	0.665000	0.62972	0.924000	0.32081	1.000000	0.68203	0.968000	0.53726	0.0:0.0927:0.0:0.9073	7.909	0.28941	899	0.25060	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	882.98	36	chr20	46350521	.	T	C	882.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=9.000e-03;DP=759;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.05;ReadPosRankSum=0.990;SOR=0.822	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1137	20	0	1	0
chr20	46512087	46512087	A	T	exonic	ZNF334	.	nonsynonymous SNV	ZNF334:NM_001353824:exon2:c.T16A:p.F6I	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.056	B	0.017	B	.	.	1.000	D	2.3	M	5.68	T	-0.882	T	0.004	T	0.103	1.922	12.38	1.91	0.538	0.277	5.226	0.071	0.00824595402133	.	.	1.648e-05	0	0	0	0	1.499e-05	0	6.058e-05	1.29e-05	2	154602	.	2.395e-05	2.394e-05	2.451e-05	2.338e-05	0.0010	1.739e-05	1.539e-05	0.0005	0.0003	0	0	0	0	0	0.0010	1.889e-05	3.313e-05	6.957e-05	2.629e-05	2.627e-05	1.285e-05	4.038e-05	5.881e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.881e-05	0	0	0.143	0.25355	T	0.186	0.28860	T	0.056	0.22806	B	0.017	0.18140	B	.	.	.	.	1	0.81001	D	1.565	0.39561	L	5.68	0.00759	T	-0.9	0.24244	N	0.249	0.28146	-0.8822	0.49585	T	0.004	0.01400	T	9	0.08760935	0.15005	T	0.008246	0.21853	T	0.071	0.20720	0.315	0.29096	0.282179105231	0.27821	.	.	0.035770915766	0.03774	0.390302360058	0.23713	T	0.012733	0.11141	T	-0.362328	0.04000	T	-0.661381	0.08173	T	0.0570081336549573	0.06690	T	0.0969903	0.00718	T	0.06122145	0.12653	0.05090418	0.08085	0.06122145	0.12652	0.05090418	0.08084	-4.81	0.34708	T	.	.	0.087	0.11269	B	.	.	1.445580	0.18657	13.86	0.97502613690156048	0.34304	0.10579	0.16046	N	AEDBI	0.038536	0.05469	N	-0.439193176641871	0.24108	1.299405	-0.417164932510152	0.24493	1.341537	0.475602114158107	0.20743	0.651	0.46895	0	0.588015	0.36545	0	0.65145	0.50148	0	0.620846	0.47308	0	.	.	3.06	1.91	0.24841	0.742000	0.25884	1.938000	0.29812	0.691000	0.84096	0.561000	0.27433	0.025000	0.21018	0.977000	0.56843	0.727:0.0:0.0:0.273	5.226	0.14716	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1593.98	33	chr20	46512087	.	A	T	1593.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.860;DP=823;ExcessHet=0.0000;FS=1.367;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=-5.860e-01;SOR=0.566	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	20	0	1	0
chr20	46541318	46541318	C	T	exonic	OCSTAMP	.	nonsynonymous SNV	OCSTAMP:NM_080721:exon3:c.G1657A:p.V553M,	.	.	426	1085	10	1	0	12	0.00549954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.235	B	0.041	B	.	.	1.000	N	0	N	0.55	T	-1.045	T	0.052	T	0.184	1.245	10.05	2.39	0.958	0.374	6.752	0.053	.	0.0039	0.00479233	0.0092	0.0005	0	0	0.0021	0.0045	0	0.0191	0.0021863	338	154602	rs41283036	0.0059	0.0063	0.0047	0.0068	0.0174	0.0057	0.0056	0.0166	0.0162	0.0010	0.0009	0.0009	9.327e-05	0.0008	0.0070	0.0062	0.0042	0.0174	0.0041	0.0041	0.0041	0.0041	0.0166	0.0038	0.0037	0.0137	0.0126	0.0011	0	0.0010	0.0009	0	0.0003	0.0034	0.0069	0.0028	0.0166	0.126	0.27194	T	0.0	0.92824	D	0.235	0.30743	B	0.041	0.23986	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.55	0.54728	T	-0.04	0.07590	N	0.106	0.09066	-1.0447	0.15913	T	0.052	0.22153	T	9	0.0036742687	0.00067	T	.	.	.	0.053	0.14996	.	.	0.0666544352282	0.05500	0.4439321696129841	0.44311	.	.	0.352969288826	0.18358	T	0.002521	0.01914	T	-0.55353	0.00278	T	-0.553604	0.16982	T	0.00855540529876737	0.00104	T	0.538946	0.18179	T	0.027286893	0.01899	0.051932193	0.08458	0.027286893	0.01899	0.051932193	0.08457	-4.371	0.29161	T	.	.	0.121	0.25199	B	.	.	1.962532	0.24926	16.58	0.94911563024116052	0.25775	0.06835	0.12859	N	AEFDGBI	0.026489	0.01998	N	-1.00310979624797	0.08538	0.4007426	-1.02828012472796	0.09166	0.4545069	0.640205974196257	0.22046	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.34	2.39	0.28492	0.380000	0.20331	-0.022000	0.12912	-0.202000	0.08738	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.0:0.8706:0.0:0.1294	6.752	0.22679	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1725.98	34	chr20	46541318	.	C	T	1725.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.750e-01;DP=884;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.03;ReadPosRankSum=0.198;SOR=0.758	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1322	20	0	1	0
chr20	46541431	46541431	G	T	exonic	OCSTAMP	.	nonsynonymous SNV	OCSTAMP:NM_080721:exon3:c.C1544A:p.P515Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.344	B	0.054	B	.	.	1.000	N	0	N	0.5	T	-1.049	T	0.063	T	0.212	0.749	7.972	-0.735	-0.152	-0.260	5.101	0.032	0.00978672009553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.36509	T	0.0	0.92824	D	0.344	0.33532	B	0.054	0.25828	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.5	0.55608	T	-0.18	0.09796	N	0.176	0.18920	-1.0491	0.14649	T	0.063	0.26172	T	9	0.07171339	0.10610	T	0.009787	0.25540	T	0.032	0.07718	0.187	0.09646	0.0551355673512	0.04727	0.34225498981728397	0.34138	.	.	0.220159992576	0.01319	T	0.001769	0.01195	T	-0.228104	0.16901	T	-0.565432	0.15870	T	0.0765133462810067	0.09535	T	0.351465	0.07848	T	0.026889374	0.01805	0.051629107	0.08347	0.026889374	0.01805	0.051629107	0.08346	-4.376	0.29230	T	.	.	0.086	0.10545	B	.	.	-0.148329	0.03363	0.598	0.66451135673158057	0.08063	0.01487	0.04941	N	AEFDGBI	0.030755	0.03155	N	-1.31736065308022	0.03476	0.1553581	-1.3800663621557	0.03465	0.1616836	0.355341893849647	0.19724	0.549168	0.22868	0	0.627178	0.54094	0	0.615948	0.41167	0	0.530356	0.10902	0	.	.	3.4	-0.735	0.10575	-0.269000	0.08626	-0.537000	0.08604	-0.794000	0.03222	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3466:0.5232:0.1302:0.0	5.101	0.14096	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2820.98	34	chr20	46541431	.	G	T	2820.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.55;DP=933;ExcessHet=0.0000;FS=2.852;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.63;ReadPosRankSum=0.962;SOR=0.946	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1322	20	0	1	0
chr20	46726040	46726040	C	T	exonic	SLC2A10	.	nonsynonymous SNV	SLC2A10:NM_030777:exon2:c.C1004T:p.A335V,	Arterial tortuosity syndrome, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.112	B	0.058	B	0.054	N	1.000	N	0	N	-1.57	D	-0.767	T	0.319	T	0.194	0.578	7.124	2.79	0.350	0.533	8.157	0.198	0.0353379705645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.301	0.14449	T	0.085	0.41074	T	0.112	0.26290	B	0.058	0.26451	B	0.054103	0.02057	N	1.934820	1	0.08975	N	0.345	0.11182	N	-1.57	0.81900	D	-0.55	0.16799	N	0.114	0.10198	-0.7673	0.57006	T	0.319	0.68805	T	10	0.11056888	0.20671	T	0.035338	0.56278	D	0.198	0.48105	0.423	0.46693	0.768769773599	0.76665	0.3191170767354815	0.31824	0.0996061284925	0.11245	0.350248515606	0.17958	T	0.108362	0.42134	T	-0.0909696	0.37916	T	-0.368448	0.37071	T	0.102446092750896	0.12624	T	0.763824	0.39073	T	0.038723227	0.05215	0.053621806	0.09069	0.038723227	0.05214	0.053621806	0.09068	-4.694	0.33331	T	.	.	0.088	0.11461	B	.	.	1.527614	0.19602	14.35	0.97147334568532895	0.32568	0.38271	0.25951	N	AEFDBI	0.160113	0.28600	N	-0.68148673828274	0.16550	0.844171	-0.572413345332566	0.20213	1.088021	0.0017464653781188	0.08839	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.86	2.79	0.31792	0.801000	0.26716	0.553000	0.19438	0.599000	0.40250	0.012000	0.18695	0.075000	0.22287	0.242000	0.23054	0.0:0.4976:0.3692:0.1332	8.157	0.30339	961	0.08552	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1994.98	34	chr20	46726040	.	C	T	1994.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.033e+00;DP=885;ExcessHet=0.0000;FS=2.245;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.23;ReadPosRankSum=-8.130e-01;SOR=0.916	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr20	47238856	47238856	T	C	exonic	ZMYND8	.	nonsynonymous SNV	ZMYND8:NM_001281784:exon14:c.A2351G:p.K784R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.999	D	0.996	D	0.000	U	1.000	D	.	.	-2.12	D	0.658	D	0.783	D	0.628	3.211	16.76	5.71	2.171	5.059	15.657	0.367	0.137403765003	.	.	8.544e-06	0	0	0	0	1.571e-05	0	0	6.5e-06	1	154602	rs764584368	5.475e-06	5.472e-06	6.809e-06	4.127e-06	0.0003	2.36e-06	1.7e-06	6.092e-05	2.521e-05	0	0	3.826e-05	0	0	0.0003	3.597e-06	1.656e-05	0	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.006	0.61437	D	0.022	0.57587	D	0.997	0.77913	D	0.985	0.84481	D	0.000001	0.84330	U	0.000000	1	0.81001	D	1.1	0.28011	L	-2.23	0.87830	D	-1.63	0.39119	N	0.233	0.28849	0.658	0.92648	D	0.783	0.92624	D	9	0.29241216	0.46818	T	0.137404	0.81990	D	0.367	0.68670	0.208	0.12497	0.881380982873	0.88022	0.38487671329915346	0.38402	.	.	.	.	.	0.043359	0.26478	T	0.151748	0.69431	D	-0.0198012	0.69042	D	0.676302850246429	0.39620	D	0.926207	0.74231	D	0.26471376	0.49538	0.29487088	0.55518	0.26471376	0.49538	0.29487088	0.55517	-3.366	0.14602	T	.	.	0.131	0.39681	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.106680	0.61274	24.3	0.99856427080554278	0.93548	0.95541	0.65132	D	AEFBCI	0.672606	0.63895	D	0.603998518882334	0.73426	5.964376	0.604238031960578	0.75246	6.27697	0.999955992720115	0.48110	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	5.71	5.71	0.89031	5.043000	0.64012	2.300000	0.32012	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.657	0.76905	782	0.47442	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2257.98	35	chr20	47238856	.	T	C	2257.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.638e+00;DP=851;ExcessHet=0.0000;FS=1.368;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.90;ReadPosRankSum=0.188;SOR=0.883	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1456	20	0	1	0
chr20	47627951	47627951	C	T	exonic	NCOA3	.	nonsynonymous SNV	NCOA3:NM_001174087:exon8:c.C751T:p.R251C	.	.	.	.	.	.	.	.	.	.	.	2675520	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.983	D	0.000	D	1.000	D	1.68	L	4.07	T	-1.177	T	0.033	T	0.961	4.557	24.7	4.78	1.401	2.443	13.880	0.346	0.015408985187	.	.	4.12e-05	0	0	0	0	7.494e-05	0	0	4.53e-05	7	154602	rs773805737	0.0001	0.0001	9.803e-05	0.0001	0.0001	8.849e-05	8.334e-05	0.0001	0.0001	2.987e-05	0	0	0	0	0	0.0001	6.624e-05	1.159e-05	5.257e-05	5.25e-05	3.857e-05	6.72e-05	0.0001	2.557e-05	1.83e-05	4.765e-05	3.339e-05	0	0	0	0	0	0	0.0034	0.0001	0	0	0.066	0.36709	T	0.003	0.76473	D	0.969	0.90584	D	0.622	0.75793	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	4.07	0.03435	T	-6.26	0.90608	D	0.926	0.93252	-1.1768	0.00419	T	0.033	0.14377	T	10	0.81121397	0.80403	D	0.015409	0.36125	T	0.346	0.66769	0.583	0.70990	0.795642183836	0.79373	0.850377765640294	0.84999	0.634968755684	0.57331	0.748650670052	0.74247	T	0.572297	0.85858	D	0.0474887	0.58018	T	0.0221204	0.71767	D	0.746321022510529	0.43081	D	0.978302	0.92360	D	0.46341982	0.64883	0.3479788	0.60444	0.46341982	0.64884	0.3479788	0.60444	-9.349	0.69946	D	.	.	0.957	0.87684	P	.;.;.	.;.;.	4.886045	0.80171	27.3	0.99927685664842103	0.99163	0.96920	0.71664	D	AEFBI	0.613024	0.60088	D	0.406634834652674	0.61787	4.384545	0.429889555261997	0.63436	4.577227	0.999999794296105	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.73	4.78	0.60666	3.106000	0.50013	5.968000	0.51946	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2773:0.7227:0.0:0.0	13.880	0.63177	126	0.94940	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1185.98	38	chr20	47627951	.	C	T	1185.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.000e-03;DP=824;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=1.00;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1238	20	0	1	0
chr20	47636547	47636547	G	A	exonic	NCOA3	.	nonsynonymous SNV	NCOA3:NM_001174087:exon12:c.G2161A:p.V721I	.	.	413	1104	4	1	0	6	0.00271003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.126	B	0.041	B	0.066	N	1.000	N	0	N	4.65	T	-0.909	T	0.004	T	0.066	-0.178	3.131	0.235	0.308	0.364	.	0.018	0.00219970689849	.	.	0.0003	0	0.0004	0	0	4.5e-05	0	0.0016	0.0002652	41	154602	rs202242711	0.0002	0.0002	0.0001	0.0002	0.0023	0.0002	0.0001	0.0015	0.0014	0	0.0004	0	0	0	0.0023	4.137e-05	0.0004	0.0018	0.0002	0.0002	0.0002	0.0001	0.0010	0.0001	9.233e-05	0.0004	0.0003	2.405e-05	0	0.0004	0	0.0008	0	0	0.0001	0	0.0010	0.058	0.39097	T	0.605	0.14075	T	0.04	0.26920	B	0.041	0.23986	B	0.065718	0.21861	N	0.450892	1	0.08975	N	2.175	0.60977	M	4.65	0.02067	T	-0.28	0.11547	N	0.078	0.08506	-0.9090	0.46977	T	0.004	0.01295	T	9	0.0076572	0.00174	T	0.002	0.04151	T	0.018	0.03083	0.22	0.14224	0.261638197198	0.25763	0.03437927736937327	0.03385	0.0913593287264	0.10321	0.32788926363	0.14615	T	0.061972	0.31793	T	-0.646171	0.00076	T	-0.70822	0.05388	T	0.0218595428231022	0.00893	T	0.592541	0.21854	T	0.0687615	0.15006	0.07461676	0.16342	0.0687615	0.15006	0.07461676	0.16342	-4.219	0.28858	T	.	.	0.070	0.03849	B	.;.;.	.;.;.	0.884267	0.12578	9.103	0.92699607453552291	0.22191	0.55770	0.29948	D	AEFBI	0.048966	0.08410	N	-1.02015311416312	0.08186	0.3829465	-1.06305179703462	0.08437	0.414837	0.0105967369730399	0.12050	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	0.235	0.235	0.14697	0.365000	0.20076	0.677000	0.20646	0.373000	0.20310	0.142000	0.23535	0.009000	0.19889	0.960000	0.51673	.	.	.	124	0.95048	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2138.98	37	chr20	47636547	.	G	A	2138.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.767e+00;DP=895;ExcessHet=0.0000;FS=1.885;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=-7.850e-01;SOR=0.863	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1117	20	0	1	0
chr20	47651122	47651122	A	0	exonic	NCOA3	.	.	.	.	.	356	888	231	20	27	298	0.132389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	4251.95	38	chr20	47651122	.	A	G,*	4251.95	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=-1.168e+00;DP=1198;ExcessHet=0.6776;FS=2.493;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=8.68;ReadPosRankSum=1.98;SOR=0.529	GT:AD:DP:GQ:PL	0/2:83,0,47:130:99:1492,1604,4780,0,3136,3141	17	0	3	0
chr20	47663617	47663617	C	T	exonic	SULF2	.	nonsynonymous SNV	SULF2:NM_001161841:exon16:c.G2063A:p.G688D	.	.	424	1091	7	0	0	7	0.00319781	.	.	705528	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.33	T	0.001	B	0.009	B	0.020	N	0.948	D	0.895	L	1.92	T	-1.090	T	0.046	T	0.359	2.896	15.65	4.87	2.768	5.716	13.204	0.035	0.00461160344733	.	0.000199681	0.0006	0	0.0003	0.0001	0	0.0002	0.0012	0.0038	0.0005045	78	154602	rs145659660	0.0003	0.0003	0.0002	0.0004	0.0032	0.0003	0.0003	0.0029	0.0027	0	0.0005	8.212e-05	2.536e-05	0	0.0028	0.0001	0.0005	0.0032	0.0003	0.0003	0.0003	0.0003	0.0031	0.0002	0.0002	0.0019	0.0015	4.81e-05	0	0.0003	0	0	0	0.0034	0.0003	0	0.0031	0.122	0.27663	T	0.631	0.07173	T	0.0	0.07471	B	0.001	0.14300	B	0.020329	0.27062	N	0.451659	0.947828	0.37584	D	0.895	0.22405	L	1.92	0.23082	T	-1.03	0.27052	N	0.486	0.52029	-1.0897	0.05582	T	0.046	0.19839	T	10	0.008715332	0.00197	T	0.004612	0.11409	T	0.035	0.08770	.	.	0.0675242888579	0.06100	0.4227411365284318	0.42191	0.498469256429	0.48318	0.66296517849	0.61833	T	0.061433	0.31651	T	-0.438558	0.01319	T	-0.405156	0.32784	T	0.0228760598089499	0.01009	T	0.838616	0.52386	T	0.17905654	0.38958	0.1872262	0.41941	0.17905654	0.38957	0.1872262	0.41940	-1.009	0.01010	T	.	.	0.148	0.33016	B	.;.;.	.;.;.	3.512544	0.49200	22.7	0.9892619388384104	0.48657	0.94782	0.62311	D	AEFDGBHCI	0.821135	0.74176	D	-0.022487746081448	0.40838	2.432233	0.187555122567379	0.49163	3.122963	0.999999999921334	0.74766	0.722319	0.85440	0	0.552637	0.17590	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.84	4.87	0.62877	5.859000	0.69288	4.254000	0.42773	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.579000	0.30870	0.0:0.6182:0.3818:0.0	13.204	0.59207	124	0.95048	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	904.98	36	chr20	47663617	.	C	T	904.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.588e+00;DP=842;ExcessHet=0.0000;FS=0.855;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=0.470;SOR=0.818	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1161	20	0	1	0
chr20	48639834	48639834	T	C	exonic	PREX1	.	nonsynonymous SNV	PREX1:NM_020820:exon30:c.A3836G:p.Q1279R,	.	.	418	1102	2	0	0	2	0.000906618	.	.	3195359	PREX1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.29	T	0.023	B	0.019	B	0.070	U	0.813	D	1.01	L	1.2	T	-1.034	T	0.063	T	0.122	2.463	14.19	4.08	0.927	3.926	8.530	0.033	0.00687883017877	0.0020	0.000998403	0.0028	0.0003	0.0016	0	0.0009	0.0041	0.0022	0.0018	0.0027296	422	154602	rs143830265	0.0037	0.0037	0.0037	0.0036	0.0043	0.0036	0.0036	0.0042	0.0042	0.0005	0.0025	0.0002	2.519e-05	0.0016	0.0012	0.0043	0.0029	0.0019	0.0025	0.0026	0.0027	0.0024	0.0042	0.0023	0.0023	0.0036	0.0034	0.0007	0	0.0042	0	0	0.0014	0	0.0040	0.0019	0.0010	0.099	0.30656	T	0.218	0.26066	T	0.001	0.07471	B	0.003	0.08700	B	0.070317	0.21548	U	0.385688	0.813027	0.34668	D	0.97	0.24054	L	1.2	0.37405	T	-0.73	0.20576	N	0.111	0.09772	-1.0342	0.19109	T	0.063	0.26101	T	10	0.0060810745	0.00137	T	0.006879	0.18205	T	0.033	0.08068	.	.	0.450867454232	0.44710	0.37541621918837764	0.37455	0.369583947691	0.38485	0.435956090689	0.30024	T	0.054298	0.29684	T	-0.525146	0.00410	T	-0.526708	0.19617	T	0.00644917836514222	0.00072	T	0.762724	0.38847	T	0.09386067	0.22055	0.08241405	0.18807	0.09386067	0.22055	0.08241405	0.18806	-3.934	0.22813	T	.	.	0.101	0.17742	B	.	.	2.678114	0.34927	19.76	0.9947502008096325	0.66579	0.88500	0.48456	D	AEFGBCI	0.464442	0.51293	N	-0.225161230224869	0.32104	1.807018	-0.0580162418324101	0.37144	2.170986	0.999999981928159	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.19	4.08	0.46880	3.769000	0.55013	5.036000	0.46868	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1497:0.0:0.8503	8.530	0.32492	819	0.41190	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	782.98	46	chr20	48639834	.	T	C	782.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.890e-01;DP=848;ExcessHet=0.0000;FS=0.833;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.55;ReadPosRankSum=1.16;SOR=0.832	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr20	48649562	48649562	T	C	exonic	PREX1	.	nonsynonymous SNV	PREX1:NM_020820:exon25:c.A3043G:p.M1015V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.034	B	0.027	B	0.000	U	0.998	D	1.06	L	1.11	T	-1.060	T	0.076	T	0.262	2.036	12.76	4.74	1.763	4.941	8.125	0.019	0.00819632438587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.382e-06	1.368e-06	1.372e-06	1.391e-06	2.365e-05	2.3e-07	9e-08	.	.	0	2.365e-05	0	0	0	0	9.055e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.28148	T	0.198	0.27767	T	0.034	0.20480	B	0.02	0.19048	B	0.000421	0.44736	U	0.093087	0.998292	0.44734	D	0.745	0.18958	N	1.11	0.38883	T	-1.73	0.41046	N	0.133	0.12913	-1.0604	0.11656	T	0.076	0.30615	T	10	0.15552193	0.29310	T	0.008196	0.21725	T	0.019	0.03383	0.358	0.36060	0.380246515176	0.37641	0.5545498768001944	0.55381	0.350051161007	0.36849	0.39008423686	0.23681	T	0.039879	0.25338	T	-0.138868	0.30071	T	-0.437251	0.29116	T	0.723190784454346	0.41860	D	0.885811	0.61165	D	0.23642509	0.46493	0.17857137	0.40535	0.23642509	0.46493	0.17857137	0.40534	-1.847	0.02653	T	.	.	0.071	0.03698	B	.	.	2.961773	0.39448	21.0	0.97613705261339401	0.34921	0.89037	0.49267	D	AEFBHCI	0.703313	0.65939	D	-0.0938486336449958	0.37661	2.194393	0.0694136318453689	0.43021	2.612492	0.929828381477416	0.26983	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.74	4.74	0.59717	4.937000	0.63213	6.203000	0.54917	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.101:0.0:0.899	8.125	0.30153	829	0.39537	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	518.98	37	chr20	48649562	.	T	C	518.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.867e+00;DP=738;ExcessHet=0.0000;FS=1.108;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.79;ReadPosRankSum=1.57;SOR=1.022	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1148	20	0	1	0
chr20	49255869	49255869	C	T	exonic	ZNFX1	.	nonsynonymous SNV	ZNFX1:NM_021035:exon9:c.G2743A:p.E915K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.988	D	0.000	N	1.000	D	1.59	L	2.0	T	0.435	D	0.711	D	0.524	3.473	17.78	4.8	1.440	2.834	13.779	0.431	0.198294072338	7.7e-05	.	4.121e-05	0	0.0002	0	0	4.498e-05	0	0	3.88e-05	6	154602	rs370193043	1.915e-05	1.915e-05	1.906e-05	1.925e-05	2.987e-05	1.328e-05	1.144e-05	1.46e-05	1.227e-05	2.987e-05	2.237e-05	3.826e-05	0	0	0	2.158e-05	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.50132	D	0.034	0.52727	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	N	0.048469	0.999978	0.53665	D	2.495	0.72670	M	2.0	0.87512	T	-2.56	0.60029	D	0.349	0.40665	0.435	0.89616	D	0.711	0.90065	D	10	0.5116477	0.62131	D	0.198294	0.86587	D	0.431	0.73735	.	.	0.468403962347	0.46465	0.6296866376320012	0.62902	1.28626484683	0.82670	0.545753419399	0.45258	T	0.473627	0.80541	T	-0.0252835	0.48096	T	-0.0982476	0.63533	T	0.848875999450684	0.50069	D	0.762324	0.38756	T	0.5833921	0.71793	0.4070464	0.65060	0.5833921	0.71794	0.4070464	0.65060	-10.611	0.77482	D	.	.	0.083	0.23041	B	.;.;.;.	.;.;.;.	3.495426	0.48878	22.7	0.99896755827449613	0.96971	0.89395	0.49834	D	AEFGBCI	0.346711	0.44143	N	0.207876204210032	0.51579	3.33815	0.15285436409396	0.47292	2.961752	0.999999950507202	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.74	4.8	0.61157	2.903000	0.48409	2.723000	0.34327	-0.171000	0.11205	0.990000	0.36992	0.993000	0.31925	0.017000	0.10941	0.0:0.9256:0.0:0.0744	13.779	0.62561	894	0.26265	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	683.98	37	chr20	49255869	.	C	T	683.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.88;DP=786;ExcessHet=0.0000;FS=9.206;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=-1.630e-01;SOR=1.564	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1215	20	0	1	0
chr20	49880967	49880967	C	A	exonic	SLC9A8	.	nonsynonymous SNV	SLC9A8:NM_001260491:exon13:c.C1250A:p.S417Y	.	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.954	D	0.000	D	1.000	D	3.275	M	2.32	T	-0.632	T	0.179	T	0.939	4.997	29.3	5.62	2.644	7.681	19.676	0.685	0.0610250652117	.	.	8.237e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs762195695	4.105e-06	4.104e-06	5.446e-06	2.75e-06	1.159e-05	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.79402	D	0.93	0.51791	P	0.866	0.61580	P	0.000000	0.84330	D	0.048700	1	0.81001	D	3.495	0.92709	M	2.32	0.16640	T	-4.48	0.77965	D	0.939	0.95956	-0.6317	0.63498	T	0.179	0.52489	T	10	0.9003495	0.89396	D	0.061025	0.68195	D	0.685	0.88490	0.76	0.88892	0.692951273293	0.69030	0.9724137673658597	0.97230	1.27251452681	0.82317	0.90429353714	0.96901	D	0.225772	0.59060	T	0.184482	0.72455	D	0.124073	0.78503	D	0.990209102630615	0.80421	D	0.991901	0.97458	D	0.8312886	0.85992	0.7865639	0.87433	0.8312886	0.85994	0.7865639	0.87433	-13.696	0.93275	D	.	.	0.982	0.94272	P	.;.	.;.	5.501042	0.91587	32	0.99557474969633042	0.71521	0.99553	0.97372	D	AEFDGBI	0.884473	0.81419	D	0.936025060150651	0.93410	12.02076	0.888498676579447	0.95050	13.26844	0.999999999999881	0.74766	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	7.768000	0.84170	7.589000	0.61191	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.676	0.95927	970	0.06235	.;Cation/H+ exchanger	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1909.98	34	chr20	49880967	.	C	A	1909.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.318;DP=883;ExcessHet=0.0000;FS=1.118;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.65;ReadPosRankSum=-2.090e-01;SOR=0.680	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1234	20	0	1	0
chr20	49906820	49906820	T	G	exonic	SPATA2	.	nonsynonymous SNV	SPATA2:NM_001135773:exon3:c.A362C:p.Y121S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.96	D	0.663	P	0.005	N	1.000	D	1.5	L	-0.03	T	-0.679	T	0.243	T	0.725	2.673	14.90	4.5	0.929	3.710	10.019	0.331	0.030845030118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.29158	T	0.036	0.52060	D	0.96	0.55278	D	0.663	0.52893	P	0.004612	0.33568	N	0.293492	0.991121	0.81001	D	2.095	0.58118	M	-0.03	0.63077	T	-2.87	0.60348	D	0.71	0.71498	-0.6788	0.61428	T	0.243	0.61201	T	10	0.58538824	0.66081	D	0.030845	0.53068	D	0.331	0.65325	0.434	0.48500	0.362933182269	0.35899	0.6727801292125147	0.67216	0.399734681576	0.40989	0.4348269701	0.29869	T	0.055225	0.29946	T	0.101775	0.64483	D	-0.0915834	0.64042	T	0.774645328521729	0.44721	D	0.831017	0.49766	T	0.51594	0.68026	0.20415933	0.44526	0.51594	0.68027	0.20415933	0.44525	-6.65	0.51433	T	.	.	0.125	0.27313	B	.;.	.;.	3.113050	0.41995	21.5	0.98055628144904006	0.37905	0.90706	0.52107	D	AEDBHCI	0.411785	0.48212	N	0.0525829897013685	0.44261	2.703404	0.0378185106348584	0.41487	2.493255	0.789198283229838	0.23985	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.61	4.5	0.54382	3.720000	0.54661	2.343000	0.32266	-0.255000	0.07062	1.000000	0.71638	0.998000	0.33993	0.975000	0.56047	0.2698:0.0:0.0:0.7302	10.019	0.41205	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.08333	527.98	39	chr20	49906820	.	T	G	527.98	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-3.444e+00;DP=1179;ExcessHet=0.3300;FS=254.639;InbreedingCoeff=-0.1201;MLEAC=3;MLEAF=0.083;MQ=60.00;MQRankSum=0.00;QD=1.96;ReadPosRankSum=1.65;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:47,0:47:99:.:.:0,120,1800	15	0	3	3
chr20	49906823	49906823	T	G	exonic	SPATA2	.	nonsynonymous SNV	SPATA2:NM_001135773:exon3:c.A359C:p.Y120S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	2.175	M	0.01	T	-0.116	T	0.429	T	0.96	4.105	21.1	5.61	2.126	7.505	15.802	0.740	0.129027542904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.625	0.76847	M	0.01	0.62459	T	-5.92	0.88963	D	0.947	0.95491	-0.1164	0.79718	T	0.429	0.77173	T	10	0.9058163	0.89946	D	0.129028	0.81103	D	0.740	0.90982	0.704	0.84054	0.484824406055	0.48112	0.7453351515872784	0.74479	0.963419316255	0.73082	0.746162295341	0.73880	T	0.451357	0.79211	T	0.338223	0.85713	D	0.248058	0.85525	D	0.994831421425804	0.86377	D	0.845915	0.52533	T	0.9436017	0.95614	0.89609224	0.94699	0.9436017	0.95614	0.89609224	0.94699	-5.655	0.43291	T	.	.	0.896	0.82547	P	.;.	.;.	5.048950	0.84086	28.2	0.99191121793113657	0.54994	0.95960	0.66903	D	AEDBHCI	0.878899	0.80446	D	0.701199312438925	0.79710	7.135678	0.654387342827681	0.78937	6.978046	0.99999941042468	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.61	5.61	0.85347	7.515000	0.80659	7.929000	0.74923	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	15.802	0.78236	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05556	280.31	39	chr20	49906823	.	T	G	280.31	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-3.439e+00;DP=1168;ExcessHet=0.1072;FS=219.716;InbreedingCoeff=-0.0910;MLEAC=2;MLEAF=0.056;MQ=60.00;MQRankSum=0.00;QD=1.55;ReadPosRankSum=1.44;SOR=8.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:61,0:61:42:.:.:0,42,1267	16	0	2	3
chr20	49945415	49945415	A	T	exonic	RNF114	.	nonsynonymous SNV	RNF114:NM_018683:exon3:c.A325T:p.T109S,	.	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.023	B	0.011	B	0.003	N	0.999	N	-0.58	N	-1.29	T	-0.926	T	0.152	T	0.043	0.028	4.162	3.59	1.039	1.240	5.500	0.129	0.0190706329475	0.0014	0.000399361	0.0016	0.0003	0.0011	0	0	0.0026	0.0033	6.058e-05	0.0015718	243	154602	rs143932352	0.0015	0.0015	0.0015	0.0016	0.0021	0.0015	0.0015	0.0014	0.0014	0.0003	0.0013	0.0159	0	7.49e-05	0.0021	0.0014	0.0023	0.0001	0.0016	0.0016	0.0018	0.0015	0.0017	0.0015	0.0014	0.0015	0.0014	0.0004	0.0374	0.0008	0.0170	0	0	0	0.0017	0.0043	0	1.0	0.00964	T	1.0	0.05747	T	0.001	0.07471	B	0.004	0.10090	B	0.003308	0.35125	N	0.343160	0.998829	0.21877	N	-0.535	0.02521	N	-1.29	0.79475	T	0.6	0.02518	N	0.109	0.09490	-0.9263	0.44673	T	0.152	0.48101	T	10	0.008870244	0.00201	T	0.019071	0.41331	T	0.129	0.35316	0.317	0.29419	0.657258635172	0.65439	0.2482232680190612	0.24736	0.441933971099	0.44173	0.342596024275	0.16826	T	0.004545	0.03948	T	-0.513733	0.00478	T	-0.516266	0.20673	T	0.00221466629232761	0.00023	T	0.622038	0.27137	T	0.021568052	0.00766	0.027558714	0.00918	0.021568052	0.00766	0.027558714	0.00918	-2.585	0.06390	T	.	.	0.070	0.05845	B	.;.;.	.;.;.	1.238487	0.16341	12.48	0.28225956273214214	0.01439	0.75436	0.36935	D	AEFDBI	0.303439	0.41142	N	-0.630159536763214	0.18043	0.933555	-0.372302531762122	0.25825	1.422681	0.996453256334516	0.34757	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.97	3.59	0.40253	1.102000	0.30662	4.037000	0.41390	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.5885:0.0:0.0816:0.3299	5.500	0.16112	969	0.06854	Zinc finger C2HC RNF-type;Zinc finger C2HC RNF-type;Zinc finger C2HC RNF-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1175.98	69	chr20	49945415	.	A	T	1175.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=1140;ExcessHet=0.0000;FS=3.366;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.04;ReadPosRankSum=1.09;SOR=1.127	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	20	0	1	0
chr20	50738061	50738061	A	G	exonic	PARD6B	.	nonsynonymous SNV	PARD6B:NM_032521:exon2:c.A271G:p.I91V,	.	.	442	1070	9	1	0	11	0.0051139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.0	B	0.011	B	0.000	N	0.994	D	0.55	N	1.92	T	-1.075	T	0.019	T	0.094	0.028	4.162	5.02	1.108	2.528	11.890	0.047	.	0.0066	0.00439297	0.0062	0.0018	0.0020	0	0.0103	0.0088	0.0056	0.0031	0.0063583	983	154602	rs142921418	0.0082	0.0082	0.0083	0.0081	0.0094	0.0080	0.0080	0.0092	0.0092	0.0013	0.0021	0.0049	0	0.0100	0.0040	0.0094	0.0064	0.0032	0.0062	0.0061	0.0061	0.0062	0.0094	0.0058	0.0057	0.0088	0.0085	0.0013	0.0647	0.0033	0.0040	0	0.0086	0.0068	0.0094	0.0052	0.0037	0.587	0.05862	T	0.601	0.09425	T	0.0	0.02946	B	0.011	0.15521	B	0.000012	0.62929	N	0.110103	0.993702	0.42026	D	0.655	0.16177	N	1.92	0.23082	T	-0.39	0.13611	N	0.117	0.19190	-1.0753	0.08287	T	0.019	0.07986	T	10	0.0058921874	0.00132	T	.	.	.	0.047	0.12962	.	.	0.138757226776	0.13463	0.3899317708589102	0.38908	0.272749980587	0.29779	0.580203175545	0.50115	T	0.031695	0.22156	T	-0.604373	0.00137	T	-0.631521	0.10299	T	0.00658088937206584	0.00074	T	0.790321	0.43084	T	0.07281682	0.16227	0.06673828	0.13711	0.07281682	0.16227	0.06673828	0.13710	-0.823	0.35701	T	.	.	0.126	0.34383	B	.;.	.;.	2.435978	0.31345	18.71	0.73037053756398296	0.10184	0.81229	0.40677	D	AEFBCI	0.393482	0.47111	N	-0.347672708174574	0.27358	1.500341	-0.120459690892231	0.34567	1.989761	0.999996817449049	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	6.14	5.02	0.66742	2.524000	0.45250	5.452000	0.48648	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.9318:0.0:0.0682:0.0	11.890	0.51906	871	0.31377	PB1 domain|PB1 domain|PB1 domain|Partitioning defective protein 6, PB1 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	753.98	39	chr20	50738061	.	A	G	753.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.744;DP=816;ExcessHet=0.0000;FS=2.941;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.02;ReadPosRankSum=-4.680e-01;SOR=1.127	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1086	20	0	1	0
chr20	50750171	50750171	T	C	exonic	PARD6B	.	nonsynonymous SNV	PARD6B:NM_032521:exon3:c.T802C:p.S268P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.223	B	0.093	B	0.000	D	1.000	D	1.81	L	2.21	T	-1.128	T	0.051	T	0.89	2.318	13.71	5.82	2.228	7.625	16.183	0.209	0.0226631070282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.29420	T	0.08	0.41913	T	0.223	0.30377	B	0.093	0.30104	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.32	0.66415	M	2.21	0.18414	T	-2.7	0.57599	D	0.684	0.69037	-1.1277	0.01896	T	0.051	0.21495	T	10	0.5256289	0.62892	D	0.022663	0.45569	T	0.209	0.49871	0.214	0.13354	0.745170153578	0.74287	0.523658265390033	0.52289	0.470541618143	0.46329	0.596136331558	0.52359	T	0.11274	0.42924	T	0.184303	0.72438	D	0.0269623	0.72082	D	0.861137747764587	0.51155	D	0.661834	0.27067	T	0.70549875	0.78359	0.5415786	0.73505	0.70549875	0.78360	0.5415786	0.73506	-5.736	0.44013	T	.	.	0.181	0.39442	B	.	.	3.421107	0.47502	22.5	0.99261729522617614	0.57222	0.96465	0.69273	D	AEFDGBCI	0.945510	0.95389	D	0.10703062561403	0.46790	2.914067	0.222889856785486	0.51120	3.297325	0.999999999999999	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.63947	0.58350	0	.	.	5.82	5.82	0.92740	7.602000	0.82038	7.857000	0.71250	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.323000	0.25040	0.0:0.0:0.0:1.0	16.183	0.81741	859	0.33891	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2633.98	45	chr20	50750171	.	T	C	2633.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.084;DP=873;ExcessHet=0.0000;FS=0.619;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.33;ReadPosRankSum=-1.182e+00;SOR=0.762	GT:AD:DP:GQ:PL	0/1:56,96:152:99:2648,0,1441	20	0	1	0
chr20	50876561	50876561	G	A	exonic	BCAS4	.	nonsynonymous SNV	BCAS4:NM_001010974:exon4:c.G430A:p.A144T	.	.	425	1077	19	1	0	21	0.00965517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.017	B	0.005	B	.	.	1.000	N	0.69	N	0.88	T	-1.035	T	0.064	T	0.187	1.631	11.41	-4.59	-0.797	-0.666	5.687	0.013	0.00395829716184	0.0005	0.00139776	0.0012	9.63e-05	8.639e-05	0	0	0.0009	0	0.0050	0.0010673	165	154602	rs140059699	0.0008	0.0008	0.0006	0.0011	0.0068	0.0008	0.0008	0.0051	0.0049	8.962e-05	4.472e-05	3.826e-05	2.519e-05	0.0005	0.0068	0.0005	0.0012	0.0055	0.0007	0.0007	0.0006	0.0009	0.0060	0.0006	0.0006	0.0043	0.0037	9.629e-05	0	0.0003	0	0	0.0003	0	0.0010	0.0005	0.0060	0.247	0.17296	T	0.333	0.23298	T	0.004	0.12183	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	0.88	0.46028	T	-0.92	0.24676	N	0.09	0.06854	-1.0350	0.18857	T	0.064	0.26632	T	9	0.004542947	0.00094	T	0.003958	0.09368	T	0.013	0.01715	.	.	0.0806252709748	0.07271	.	.	.	.	.	.	.	.	.	.	-0.591353	0.00165	T	-0.62071	0.11130	T	0.00531361838367723	0.00057	T	0.452755	0.13579	T	.	.	.	.	.	.	.	.	-3.972	0.23383	T	.	.	0.068	0.05188	B	.;.	.;.	-0.179558	0.03195	0.528	0.91878425137019026	0.21195	0.01450	0.04859	N	AEFDBI	0.023275	0.01274	N	-1.39248706274035	0.02708	0.1199527	-1.48093835043399	0.02500	0.1151166	0.304618075066319	0.19225	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.0	-4.59	0.03158	-0.655000	0.05447	-2.330000	0.03891	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5908:0.0:0.259:0.1501	5.687	0.17079	812	0.42537	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1990.98	34	chr20	50876561	.	G	A	1990.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.873;DP=840;ExcessHet=0.0000;FS=3.026;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=0.464;SOR=0.979	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1233	20	0	1	0
chr20	51009725	51009725	C	T	exonic	KCNG1	.	nonsynonymous SNV	KCNG1:NM_002237:exon2:c.G614A:p.R205H,	.	.	.	.	.	.	.	.	.	.	.	2678348	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.049	B	0.027	B	0.053	N	0.985	D	2.755	M	-2.79	D	0.101	D	0.921	D	0.138	3.258	16.93	4.71	1.392	3.924	10.477	0.417	0.0739136839484	7.7e-05	.	8.267e-05	0	0	0	0	0.0002	0	0	5.82e-05	9	154602	rs368678625	5.093e-05	5.199e-05	4.383e-05	5.81e-05	0.0005	4.151e-05	3.801e-05	0.0001	7.565e-05	0	2.247e-05	0.0012	0	0	0.0005	1.891e-05	0.0001	0.0001	3.941e-05	3.94e-05	3.853e-05	4.033e-05	0.0002	1.715e-05	1.129e-05	.	.	2.411e-05	0	0	0.0009	0	0	0	1.47e-05	0	0.0002	0.018	0.63226	D	0.059	0.64786	T	0.004	0.12183	B	0.008	0.13708	B	0.052555	0.02038	N	2.221840	0.985363	0.40274	D	3.175	0.88760	M	-4.72	0.98051	D	-2.23	0.52776	N	0.099	0.08088	0.101	0.84196	D	0.921	0.97392	D	9	0.13250375	0.25218	T	0.073914	0.71909	D	0.417	0.72705	.	.	0.995002090524	0.99495	0.5872879773663684	0.58658	1.52655298953	0.87511	0.436934888363	0.30158	T	0.325308	0.69603	T	-0.0325554	0.47045	T	-0.0809402	0.64835	T	0.236240186500235	0.22245	T	0.711029	0.32612	T	0.1964577	0.41474	0.08373228	0.19212	0.1964577	0.41473	0.08373228	0.19212	-7.447	0.57236	T	.	.	0.121	0.25232	B	.;.	.;.	3.369195	0.46553	22.3	0.99805075462462223	0.88906	0.96056	0.67333	D	AEFDGBI	0.424665	0.48975	N	0.0575717186090372	0.44491	2.722227	0.174222722862061	0.48438	3.059801	0.993729944449324	0.33329	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	5.65	4.71	0.59010	3.161000	0.50446	0.751000	0.21237	0.520000	0.23804	1.000000	0.71638	0.999000	0.35428	0.967000	0.53440	0.0:0.8502:0.0:0.1498	10.477	0.43856	851	0.35303	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	7106.08	33	chr20	51009725	.	C	T	7106.08	.	AC=2;AF=0.048;AN=42;DP=948;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.90;SOR=0.712	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1329	20	1	0	0
chr20	51516833	51516833	C	G	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1223C:p.G408A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.035	M	-0.68	T	0.381	D	0.611	D	0.933	4.885	28.0	5.25	2.455	7.813	18.871	0.869	0.202108400602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.732e-05	0.0017	0.0001	8.733e-05	0.0001	8.384e-05	7.919e-05	0.0001	9.607e-05	6.032e-05	0	3.84e-05	2.523e-05	0	0	0.0001	6.668e-05	2.326e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.9	0.83903	M	-0.68	0.72568	T	-5.56	0.86296	D	0.901	0.91505	0.381	0.88810	D	0.611	0.86246	D	10	0.8972913	0.89084	D	0.202108	0.86802	D	0.869	0.96059	0.673	0.81101	0.917666431197	0.91683	0.8047902846343375	0.80433	1.22105697637	0.81090	0.817002594471	0.84569	D	0.649316	0.89339	D	0.387933	0.89203	D	0.319463	0.89067	D	0.996825218200684	0.90159	D	0.999309	0.99724	D	0.9031787	0.91670	0.80110663	0.88338	0.9031787	0.91671	0.80110663	0.88339	-12.7	0.88324	D	.	.	0.999	0.99219	P	.;.;.;.;.;.	.;.;.;.;.;.	5.269992	0.88488	29.6	0.99874407340726401	0.95160	0.98728	0.86094	D	AEFDBHI	0.894554	0.83366	D	0.910105444057895	0.92245	11.31442	0.843453264125031	0.92626	11.53706	0.999999999999247	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.25	5.25	0.73169	7.900000	0.86025	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.0:1.0:0.0:0.0	18.871	0.92287	957	0.09725	.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.075	465.47	36	chr20	51516833	.	C	G,T	465.47	.	AC=1,2;AF=0.025,0.050;AN=40;BaseQRankSum=-2.239e+00;DP=1071;ExcessHet=0.3300;FS=333.363;InbreedingCoeff=-0.0909;MLEAC=1,2;MLEAF=0.025,0.050;MQ=60.00;MQRankSum=0.00;QD=2.02;ReadPosRankSum=0.064;SOR=8.409	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:74,0,0:74:77:.:.:0,77,1679,77,1679,1679	17	0	1	1
chr20	51516833	51516833	C	T	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1223A:p.G408D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.035	M	-0.7	T	0.381	D	0.611	D	0.957	5.041	29.8	5.25	2.455	7.813	18.871	0.893	0.262073555344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.882e-07	2.056e-06	0	1.383e-06	9.057e-07	0	0	.	.	0	0	0	0	0	0	9.057e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.9	0.83903	M	-0.7	0.72785	T	-6.5	0.91609	D	0.94	0.95608	0.381	0.88810	D	0.611	0.86246	D	10	0.9135088	0.90714	D	0.262074	0.89547	D	0.893	0.96947	0.711	0.84691	0.919610210409	0.91879	0.8600597117562743	0.85969	1.36751619527	0.84468	0.868866324425	0.92406	D	0.671936	0.90273	D	0.38892	0.89260	D	0.32088	0.89126	D	0.997196435928345	0.90986	D	0.999049	0.99552	D	0.9028719	0.91642	0.8530377	0.91708	0.9028719	0.91643	0.8530377	0.91709	-13.698	0.92426	D	.	.	1.000	0.99795	P	.;.;.;.;.;.	.;.;.;.;.;.	5.517230	0.91744	32	0.99867588980001254	0.94547	0.98253	0.80960	D	AEFDBHI	0.905011	0.85599	D	0.910254360952043	0.92253	11.31834	0.843558426454481	0.92633	11.54079	0.999999999999247	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.25	5.25	0.73169	7.900000	0.86025	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.0:1.0:0.0:0.0	18.871	0.92287	957	0.09725	.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.075	465.47	36	chr20	51516833	.	C	G,T	465.47	.	AC=1,2;AF=0.025,0.050;AN=40;BaseQRankSum=-2.239e+00;DP=1071;ExcessHet=0.3300;FS=333.363;InbreedingCoeff=-0.0909;MLEAC=1,2;MLEAF=0.025,0.050;MQ=60.00;MQRankSum=0.00;QD=2.02;ReadPosRankSum=0.064;SOR=8.409	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:74,0,0:74:77:.:.:0,77,1679,77,1679,1679	17	0	1	1
chr20	51516834	51516834	C	G	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1222C:p.G408R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.035	M	-0.72	T	0.381	D	0.611	D	0.955	5.001	29.4	5.25	2.455	7.813	18.871	0.887	0.291469148357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.619e-05	0.0007	0.0001	7.042e-05	0.0001	8.278e-05	7.817e-05	9.981e-05	9.381e-05	6.002e-05	0	0	5.044e-05	0	0	0.0001	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.9	0.83903	M	-0.72	0.72994	T	-7.31	0.94511	D	0.952	0.97095	0.381	0.88810	D	0.611	0.86246	D	10	0.92848086	0.92191	D	0.291469	0.90578	D	0.887	0.96725	0.754	0.88402	0.90210233382	0.90113	0.8239515636362394	0.82352	1.30562062205	0.83120	0.866135060787	0.92011	D	0.671936	0.90273	D	0.39566	0.89663	D	0.330562	0.89533	D	0.997253000736237	0.91125	D	0.999394	0.99801	D	0.9024346	0.91602	0.87273586	0.93055	0.9024346	0.91603	0.87273586	0.93056	-12.284	0.86643	D	.	.	1.0	0.99952	P	.;.;.;.;.;.	.;.;.;.;.;.	5.540515	0.91959	32	0.99941663280488358	0.99797	0.98728	0.86094	D	AEFDBHI	0.897828	0.84044	D	0.916431156634983	0.92541	11.483	0.851822094425726	0.93121	11.83822	0.999999999999247	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.25	5.25	0.73169	7.900000	0.86025	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	18.871	0.92287	957	0.09725	.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3182	1110.73	33	chr20	51516834	.	C	G	1110.73	.	AC=7;AF=0.318;AN=22;BaseQRankSum=-1.139e+00;DP=1283;ExcessHet=2.5830;FS=294.373;InbreedingCoeff=-0.4045;MLEAC=10;MLEAF=0.455;MQ=60.00;MQRankSum=0.00;QD=2.00;ReadPosRankSum=-4.600e-02;SOR=10.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:64,40:106:99:.:.:248,0,1137	4	0	7	10
chr20	51729952	51729952	C	A	exonic	ATP9A	.	nonsynonymous SNV	ATP9A:NM_006045:exon2:c.G95T:p.G32V,	.	.	428	1050	41	3	0	47	0.021891	.	.	705551	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.08	T	0.57	P	0.31	B	0.000	D	1.000	D	1.355	L	0.59	T	-0.836	T	0.171	T	0.756	3.616	18.40	5.27	2.608	7.257	19.236	0.205	.	0.0030	0.00599042	0.0064	0.0007	0.0018	0	0.0035	0.0045	0.0071	0.0297	0.005899	912	154602	rs142435125	0.0057	0.0057	0.0051	0.0063	0.0250	0.0056	0.0055	0.0241	0.0237	0.0004	0.0014	0.0163	2.613e-05	0.0025	0.0145	0.0046	0.0056	0.0250	0.0033	0.0033	0.0032	0.0034	0.0200	0.0031	0.0030	0.0167	0.0155	0.0007	0	0.0006	0.0147	0.0002	0.0030	0.0204	0.0040	0.0024	0.0200	0.17	0.22833	T	0.316	0.19362	T	0.57	0.38545	P	0.147	0.34014	B	0.000000	0.84330	D	0.000000	0.999996	0.81001	D	1.5	0.37844	L	0.59	0.53943	T	-2.17	0.49018	N	0.678	0.71055	-0.8359	0.52917	T	0.171	0.51309	T	10	0.0062817633	0.00142	T	.	.	.	0.205	0.49236	.	.	0.228066490088	0.22430	0.734965493781235	0.73441	1.03928217302	0.75733	0.783974707127	0.79528	T	0.122417	0.44607	T	-0.247686	0.14383	T	-0.109636	0.62642	T	0.0238870667430265	0.01130	T	0.940506	0.77585	D	0.29506063	0.52458	0.25470945	0.51141	0.29506063	0.52458	0.25470945	0.51140	-9.218	0.69089	D	.	.	0.152	0.33687	B	.;.	.;.	3.753699	0.53817	23.4	0.99419922879306388	0.63694	0.97975	0.78564	D	AEFDHI	0.864955	0.78390	D	0.27288617964197	0.54777	3.642689	0.404589802775665	0.61851	4.391058	0.9999999999934	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.27	5.27	0.73797	7.379000	0.78975	4.672000	0.44283	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:1.0:0.0:0.0	19.236	0.93848	958	0.09170	.;.	.	.	.	.	rs142435125	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1535.98	34	chr20	51729952	.	C	A	1535.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.591e+00;DP=947;ExcessHet=0.0000;FS=5.230;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.91;ReadPosRankSum=0.944;SOR=0.353	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr20	53255698	53255698	C	T	exonic	TSHZ2	.	nonsynonymous SNV	TSHZ2:NM_001193421:exon2:c.C2231T:p.T744I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.001	B	0.002	B	0.942	N	1.000	N	1.245	L	1.31	T	-0.999	T	0.100	T	0.177	-0.335	2.413	5.08	2.356	2.422	18.484	0.092	0.0107936018733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.24857	T	0.236	0.24767	T	0.001	0.07471	B	0.002	0.06944	B	0.941578	0.08350	N	0.976149	1	0.08975	N	1.445	0.36358	L	1.31	0.35405	T	-2.06	0.47175	N	0.153	0.15749	-0.9992	0.30143	T	0.100	0.37239	T	10	0.1453917	0.27580	T	0.010794	0.27726	T	0.092	0.26621	0.149	0.05238	0.44770609447	0.44391	0.17713286401464268	0.17632	0.126814046396	0.14290	0.260893166065	0.04998	T	0.174613	0.52390	T	-0.21289	0.18974	T	-0.543578	0.17947	T	0.125717912672983	0.14981	T	0.738026	0.35555	T	0.09222512	0.21630	0.11833613	0.28565	0.09222512	0.21630	0.11833613	0.28564	-4.358	0.28982	T	.	.	0.092	0.13456	B	.;.;.	.;.;.	1.094950	0.14792	11.33	0.75498086769226336	0.11098	0.51627	0.28940	D	AEFGBI	0.247091	0.36773	N	-0.479602570313229	0.22751	1.216971	-0.435265437698269	0.23970	1.310031	0.98705172060163	0.31176	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	2.454000	0.44636	1.822000	0.29048	0.539000	0.25131	0.436000	0.26456	0.003000	0.18671	0.016000	0.10718	0.0:1.0:0.0:0.0	18.484	0.90770	970	0.06235	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3341.98	40	chr20	53255698	.	C	T	3341.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.600;DP=1070;ExcessHet=0.0000;FS=0.435;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=-4.910e-01;SOR=0.748	GT:AD:DP:GQ:PL	0/1:145,136:281:99:3356,0,3471	20	0	1	0
chr20	53576128	53576128	T	C	exonic	ZNF217	.	nonsynonymous SNV	ZNF217:NM_001385034:exon4:c.A2636G:p.N879S	.	.	429	1092	1	0	0	1	0.000457666	.	.	3350197	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.3	T	0.004	B	0.001	B	0.413	N	1.000	N	1.355	L	3.0	T	-0.966	T	0.018	T	0.006	1.442	10.76	-0.927	-0.547	0.303	1.756	0.044	0.015125770467	0.0002	0.000399361	0.0002	0.0004	0.0002	0.0002	0	8.992e-05	0	0.0006	0.0001746	27	154602	rs371075866	9.166e-05	9.166e-05	7.623e-05	0.0001	0.0005	7.89e-05	7.365e-05	0.0003	0.0003	0.0004	6.708e-05	0	0.0001	0	0.0003	5.935e-05	9.934e-05	0.0005	9.194e-05	9.186e-05	0.0001	6.714e-05	0.0002	5.525e-05	4.362e-05	6.27e-05	4.291e-05	0.0001	0	0.0002	0	0	0	0	5.881e-05	0	0.0002	0.235	0.18000	T	0.602	0.07894	T	0.004	0.12183	B	0.001	0.04355	B	0.412628	0.12976	N	0.713544	1	0.08975	N	1.7	0.43825	L	3.0	0.09167	T	-0.93	0.24898	N	0.077	0.05162	-0.9663	0.37954	T	0.018	0.07565	T	10	0.019126713	0.00423	T	0.015126	0.35682	T	0.044	0.11924	.	.	0.128874641272	0.12493	0.04949757344733032	0.04892	0.182931681064	0.20578	0.42260786891	0.28195	T	0.082338	0.36804	T	-0.64203	0.00081	T	-0.810577	0.01652	T	0.00577418372056042	0.00063	T	0.470053	0.13899	T	0.024958396	0.01380	0.022884104	0.00306	0.024958396	0.01380	0.022884104	0.00306	-3.415	0.15259	T	.	.	0.066	0.02927	B	.;.	.;.	-0.055236	0.03916	0.865	0.67043476611691055	0.08237	0.05758	0.11688	N	AEFBCI	0.021393	0.00948	N	-1.01478669307236	0.08296	0.3884976	-1.08318712215249	0.08031	0.3931375	0.999992722408554	0.74766	0.706548	0.73137	0	0.685571	0.66316	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.56	-0.927	0.09920	0.365000	0.20076	0.073000	0.14287	0.665000	0.62972	0.170000	0.23934	0.034000	0.21380	0.006000	0.07323	0.1394:0.3419:0.1436:0.3752	1.756	0.02803	990	0.01402	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2372.98	80	chr20	53576128	.	T	C	2372.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.360e-01;DP=1308;ExcessHet=0.0000;FS=1.160;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=-5.760e-01;SOR=0.811	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1148	20	0	1	0
chr20	53576159	53576159	A	G	exonic	ZNF217	.	nonsynonymous SNV	ZNF217:NM_001385034:exon4:c.T2605C:p.S869P	.	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.0	B	0.0	B	0.005	N	1.000	N	1.245	L	2.92	T	-1.059	T	0.007	T	0.024	1.171	9.765	-10.1	-3.372	-2.754	5.205	0.021	.	0.0093	0.00579073	0.0021	0.0234	0.0006	0	0	7.492e-05	0	0.0001	0.0019469	301	154602	rs34533727	0.0008	0.0008	0.0009	0.0007	0.0280	0.0007	0.0007	0.0265	0.0259	0.0280	0.0012	0	0	0	0.0029	3.597e-05	0.0015	8.115e-05	0.0076	0.0076	0.0073	0.0078	0.0269	0.0072	0.0071	0.0256	0.0251	0.0269	0	0.0011	0	0	0	0.0034	2.941e-05	0.0062	0.0002	0.347	0.12428	T	0.252	0.23570	T	0.0	0.02946	B	0.0	0.01387	B	0.004925	0.01052	N	2.706720	1	0.08975	N	0.77	0.19370	N	2.92	0.09915	T	-1.04	0.27259	N	0.052	0.02366	-1.0589	0.12032	T	0.007	0.02478	T	10	0.0033615828	0.00058	T	.	.	.	0.021	0.04004	.	.	0.043077524339	0.03247	0.019413054824994527	0.01895	0.284023243776	0.30833	0.279278099537	0.07391	T	0.064579	0.32470	T	-0.780588	0.00011	T	-0.873087	0.00714	T	0.0121820117041624	0.00195	T	0.239776	0.03423	T	0.039135423	0.05346	0.042958	0.05234	0.039135423	0.05346	0.042958	0.05234	-3.654	0.18641	T	.	.	0.069	0.02960	B	.;.	.;.	-1.174457	0.00557	0.013	0.62081987616873346	0.06872	0.04676	0.10356	N	AEFBCI	0.036756	0.04948	N	-1.81278722058596	0.00514	0.02214876	-1.97190981643906	0.00351	0.01548699	0.99999999999747	0.74766	0.706548	0.73137	0	0.685571	0.66316	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.03	-10.1	0.00330	-2.764000	0.00854	-1.532000	0.05230	-1.263000	0.01289	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4723:0.3391:0.1035:0.0851	5.205	0.14610	990	0.01402	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1250.98	80	chr20	53576159	.	A	G	1250.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.252;DP=1316;ExcessHet=0.0000;FS=2.945;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.92;ReadPosRankSum=1.77;SOR=0.947	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1148	20	0	1	0
chr20	53581599	53581599	T	C	exonic	ZNF217	.	nonsynonymous SNV	ZNF217:NM_001385034:exon2:c.A1228G:p.M410V	.	.	432	1009	76	5	0	86	0.0408745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.005	B	0.004	B	0.593	N	1.000	N	1.1	L	3.16	T	-0.953	T	0.013	T	0.063	-0.881	0.479	-0.223	-0.156	-0.286	4.776	0.014	.	0.0040	0.0131789	0.0112	0.0007	0.0050	0.0001	0.0044	0.0068	0.0166	0.0479	0.0100969	1561	154602	rs6068589	0.0080	0.0080	0.0066	0.0095	0.0474	0.0079	0.0078	0.0462	0.0457	0.0008	0.0044	0.0037	0.0001	0.0034	0.0350	0.0058	0.0079	0.0474	0.0056	0.0057	0.0051	0.0062	0.0436	0.0053	0.0052	0.0387	0.0369	0.0009	0	0.0040	0.0035	0.0002	0.0032	0.0238	0.0071	0.0066	0.0436	1.0	0.00964	T	0.373	0.16328	T	0.005	0.12996	B	0.004	0.10090	B	0.593015	0.05603	N	1.230860	1	0.08975	N	0.365	0.12025	N	3.16	0.07711	T	-0.44	0.14588	N	0.009	0.00252	-0.9525	0.40538	T	0.013	0.05225	T	10	0.0018404424	0.00025	T	.	.	.	0.014	0.01968	.	.	.	.	0.10227051858658619	0.10157	0.22842857525	0.25396	0.300081849098	0.10412	T	0.067626	0.33250	T	-0.707244	0.00033	T	-0.753646	0.03346	T	0.00367050087191358	0.00039	T	0.476852	0.14330	T	0.109267846	0.25833	0.07645901	0.16935	0.109267846	0.25833	0.07645901	0.16935	-2.293	0.04517	T	.	.	0.061	0.01092	B	.;.	.;.	-0.380819	0.02285	0.239	0.41343242720419293	0.02976	0.20278	0.20981	N	AEFDBHCI	0.079442	0.16045	N	-0.912887780753247	0.10540	0.5041327	-0.941171445694149	0.11128	0.5650487	0.999992307601255	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	4.97	-0.223	0.12472	-0.173000	0.09844	-0.621000	0.08173	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.324000	0.25064	0.2377:0.1261:0.0:0.6362	4.776	0.12551	991	0.01385	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2385.11	111	chr20	53581599	.	T	C	2385.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.65;DP=880;ExcessHet=0.1072;FS=1.045;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.514;SOR=0.592	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1254	19	0	2	0
chr20	54028628	54028628	C	A	exonic	BCAS1	.	nonsynonymous SNV	BCAS1:NM_001316361:exon4:c.G487T:p.V163F	.	.	429	1034	56	3	0	62	0.029108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.868	P	0.32	B	0.277	N	1.000	N	0.69	N	3.3	T	-0.961	T	0.007	T	0.246	2.781	15.26	0.45	0.337	-0.133	2.756	0.031	.	0.0072	0.0121805	0.0122	0.0023	0.0054	0.0032	0.0023	0.0092	0.0143	0.0435	0.0110542	1709	154602	rs61754122	0.0082	0.0082	0.0068	0.0095	0.0435	0.0080	0.0080	0.0423	0.0419	0.0025	0.0055	0.0216	0.0013	0.0018	0.0244	0.0057	0.0100	0.0435	0.0068	0.0068	0.0064	0.0073	0.0425	0.0065	0.0063	0.0378	0.0359	0.0024	0	0.0058	0.0187	0.0021	0.0023	0.0238	0.0077	0.0085	0.0425	0.012	0.58626	D	0.046	0.49120	D	0.868	0.47740	P	0.32	0.41729	B	0.277183	0.15013	N	0.648898	1	0.08975	N	0.69	0.16971	N	3.3	0.06368	T	-1.09	0.28290	N	0.055	0.03175	-0.9612	0.38955	T	0.007	0.02598	T	10	0.0027716756	0.00043	T	.	.	.	0.067	0.19503	.	.	.	.	0.03992220136706161	0.03938	0.289761338798	0.31384	0.328943371773	0.14774	T	0.021546	0.16761	T	-0.480598	0.00733	T	-0.432422	0.29661	T	0.0165141970174594	0.00415	T	0.69603	0.30552	T	0.05788448	0.11576	0.05855628	0.10839	0.05788448	0.11576	0.05855628	0.10839	-6.569	0.50816	T	.	.	0.094	0.19235	B	.;.;.	.;.;.	1.223381	0.16175	12.37	0.99409088839058579	0.63169	0.09415	0.15175	N	AEFDBCI	0.158754	0.28445	N	-0.719141057650663	0.15484	0.7807461	-0.817846634436971	0.14063	0.7328977	0.999540203599691	0.40300	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.87	0.45	0.15835	0.146000	0.16000	0.467000	0.18675	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2632:0.4301:0.0:0.3067	2.756	0.04969	985	0.02828	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3184.11	34	chr20	54028628	.	C	A	3184.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.49;DP=952;ExcessHet=0.1072;FS=3.625;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.49;ReadPosRankSum=2.17;SOR=0.486	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1450	19	0	2	0
chr20	54158096	54158096	A	G	exonic	CYP24A1	.	nonsynonymous SNV	CYP24A1:NM_000782:exon9:c.T1226C:p.L409S	Hypercalcemia, infantile, 1, Autosomal recessive	YES	0	1521	1	0	0	1	0.000328623	.	.	38635	Hypercalcemia,_infantile,_1|not_provided|CYP24A1-related_disorder	MONDO:MONDO:0020739,MedGen:C4310232,OMIM:143880,Orphanet:300547|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.825	M	4.76	T	0.582	D	0.706	D	0.894	4.182	21.7	5.3	2.125	8.790	14.728	0.521	0.272288493536	0.0013	0.000199681	0.0007	0.0004	0.0003	0	0	0.0012	0	6.075e-05	0.000815	126	154602	rs6068812	0.0018	0.0018	0.0019	0.0018	0.0023	0.0018	0.0018	0.0022	0.0022	0.0004	0.0005	0.0005	0	0	0.0003	0.0023	0.0011	8.115e-05	0.0008	0.0008	0.0008	0.0007	0.0014	0.0007	0.0006	0.0012	0.0011	0.0004	0	0.0003	0.0006	0	0	0	0.0014	0.0005	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000024	0.55875	D	0.066212	0.999884	0.50402	D	2.125	0.59049	M	-0.33	0.81478	T	-3.74	0.71042	D	0.928	0.94196	0.582	0.91667	D	0.706	0.89874	D	10	0.4714062	0.59884	T	0.272288	0.89925	D	0.521	0.79643	.	.	0.972374892747	0.97207	0.9550790508331022	0.95492	0.443632335628	0.44285	0.619048416615	0.55595	T	0.787076	0.94432	D	0.0523363	0.58644	T	0.29841	0.88124	D	0.103153262518355	0.12700	T	0.893711	0.63166	D	0.9299575	0.94232	0.90004873	0.94979	0.93790287	0.95034	0.8652603	0.92540	-11.487	0.82262	D	.	.	0.902	0.86166	P	.;.;.	.;.;.	5.185675	0.86954	29.1	0.99871574663690699	0.94902	0.98227	0.80721	D	AEFDBCI	0.816900	0.73851	D	0.862258025404156	0.89795	10.12064	0.802232955726701	0.89948	10.18998	0.999999999999684	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.3	5.3	0.74745	8.617000	0.90710	11.258000	0.90976	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	1.0:0.0:0.0:0.0	14.728	0.68975	959	0.08690	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	974.98	42	chr20	54158096	.	A	G	974.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.533;DP=858;ExcessHet=0.0000;FS=2.829;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=1.26;SOR=0.440	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr20	54162851	54162851	T	C	exonic	CYP24A1	.	nonsynonymous SNV	CYP24A1:NM_000782:exon7:c.A856G:p.I286V	Hypercalcemia, infantile, 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2703438	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.35	T	0.002	B	0.008	B	0.083	N	1.000	N	0.995	L	4.92	T	-1.048	T	0.284	T	0.144	1.449	10.79	-11.1	-2.542	0.085	22.165	0.182	0.0132942078319	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866441419	1.404e-05	2.053e-05	1.262e-05	1.546e-05	0.0026	9.17e-06	7.45e-06	0.0016	0.0013	0	4.477e-05	0	0	0	0.0026	0	5.078e-05	0	2.629e-05	2.625e-05	2.573e-05	2.689e-05	6.541e-05	8.14e-06	5.14e-06	.	.	0	0	6.541e-05	0	0	0	0.0068	0	0.0005	0	0.177	0.22224	T	0.18	0.31427	T	0.001	0.07471	B	0.005	0.11217	B	0.083172	0.20768	N	0.532611	0.999999	0.08975	N	0.765	0.19305	N	-0.17	0.80645	T	-0.52	0.18877	N	0.172	0.22870	-1.0476	0.15073	T	0.284	0.65596	T	10	0.115214705	0.21700	T	0.013294	0.32578	T	0.182	0.45420	0.717	0.85230	0.289098819767	0.28531	0.28841173233747086	0.28754	0.0537248255032	0.05932	0.252392649651	0.04023	T	0.198267	0.55520	T	-0.264803	0.12342	T	-0.442301	0.28552	T	0.0557299217318274	0.06479	T	0.545245	0.18642	T	0.044700038	0.07189	0.049355466	0.07525	0.044700038	0.07189	0.049355466	0.07524	-4.924	0.36981	T	.	.	0.056	0.09481	B	.;.;.	.;.;.	-1.026892	0.00734	0.022	0.40067056976598603	0.02804	0.12780	0.17475	N	AEFBCI	0.071239	0.14175	N	-1.81242104652946	0.00515	0.02218809	-1.93378099542837	0.00419	0.01853834	0.999999999842106	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.56	-11.1	0.00116	0.049000	0.13983	-4.355000	0.02200	-0.716000	0.03877	0.042000	0.21073	0.000000	0.08366	0.055000	0.15596	0.0:0.1364:0.0:0.8636	22.165	0.99969	974	0.05496	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	868.98	37	chr20	54162851	.	T	C	868.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.700e-01;DP=783;ExcessHet=0.0000;FS=4.452;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.00;ReadPosRankSum=0.878;SOR=0.342	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1156	20	0	1	0
chr20	54171651	54171651	G	A	exonic	CYP24A1	.	nonsynonymous SNV	CYP24A1:NM_000782:exon3:c.C469T:p.R157W	Hypercalcemia, infantile, 1, Autosomal recessive	.	0	1442	72	3	5	83	0.0263336	.	.	270131	Hypercalcemia,_infantile,_1|CYP24A1-related_disorder|not_provided	MONDO:MONDO:0020739,MedGen:C4310232,OMIM:143880,Orphanet:300547|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.725	M	-0.41	T	-0.138	T	0.467	T	0.808	3.188	16.67	-1.28	-0.626	1.541	13.137	0.849	0.474977416158	.	0.000998403	0.0015	0.0005	0.0011	0.0001	0.0002	0.0022	0.0011	0.0005	0.0015653	242	154602	rs35873579	0.0029	0.0029	0.0030	0.0028	0.0035	0.0028	0.0028	0.0034	0.0034	0.0005	0.0015	0.0001	5.038e-05	0.0002	0.0009	0.0035	0.0024	0.0004	0.0018	0.0018	0.0021	0.0015	0.0032	0.0016	0.0015	0.0028	0.0027	0.0005	0	0.0022	0	0	9.439e-05	0	0.0032	0.0005	0.0002	0.002	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.958	0.70027	D	0.000000	0.84330	D	0.047721	0.999596	0.48635	D	2.99	0.85699	M	-0.41	0.69413	T	-5.07	0.82830	D	0.902	0.92433	-0.1379	0.79216	T	0.467	0.79427	T	10	0.2155258	0.38107	T	0.474977	0.94744	D	0.849	0.95323	.	.	0.817560347467	0.81584	0.8738287631906198	0.87348	0.38698782974	0.39986	0.487935274839	0.37152	T	0.75718	0.93392	D	-0.139379	0.29991	T	0.0310205	0.72344	D	0.0679974905383574	0.08367	T	0.977202	0.92020	D	0.7928412	0.83451	0.81640744	0.89309	0.8284251	0.85795	0.8288375	0.90110	-9.899	0.73978	D	.	.	0.193	0.50898	B	.;.;.	.;.;.	3.948127	0.57820	23.9	0.99541509672010009	0.70523	0.69342	0.34150	D	AEFDBHCI	0.674634	0.64029	D	0.0643447757331673	0.44805	2.747914	-0.0815655711413196	0.36153	2.100319	0.999951290332771	0.48110	0.549168	0.22868	0	0.563428	0.19063	0	0.590023	0.30420	0	0.530356	0.10902	0	.	.	4.41	-1.28	0.08834	1.419000	0.34400	1.258000	0.25213	-0.144000	0.12334	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.5719:0.4281	13.137	0.58833	954	0.10045	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	774.98	41	chr20	54171651	.	G	A	774.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.070;DP=800;ExcessHet=0.0000;FS=3.075;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.57;ReadPosRankSum=-1.970e-01;SOR=1.074	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr20	54173363	54173363	T	A	exonic	CYP24A1	.	nonsynonymous SNV	CYP24A1:NM_000782:exon1:c.A217T:p.I73F	Hypercalcemia, infantile, 1, Autosomal recessive	.	0	1513	8	1	0	10	0.00329381	.	.	351207	Hypercalcemia,_infantile,_1|not_provided	MONDO:MONDO:0020739,MedGen:C4310232,OMIM:143880,Orphanet:300547|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.88	T	0.993	D	0.921	D	0.000	D	1.000	D	0.46	N	5.13	T	-0.821	T	0.195	T	0.395	2.958	15.86	5.2	1.965	2.778	9.289	0.170	0.135669599571	7.8e-05	0.000599042	0.0004	0	0.0005	0	0	0.0002	0	0.0017	0.0002264	35	154602	rs201820243	0.0002	0.0002	0.0001	0.0002	0.0013	0.0001	0.0001	0.0011	0.0010	0	0.0001	0.0021	0	0	0.0009	4.246e-05	0.0003	0.0013	0.0001	0.0001	8.992e-05	0.0001	0.0010	6.505e-05	5.317e-05	0.0004	0.0003	0	0	0.0001	0.0020	0	0	0	2.94e-05	0	0.0010	0.01	0.57480	D	0.005	0.72224	D	0.981	0.59675	D	0.842	0.60272	P	0.000033	0.55875	D	0.159697	0.979647	0.39583	D	-0.15	0.04376	N	0.04	0.62051	T	-0.32	0.12283	N	0.388	0.54059	-0.8214	0.53846	T	0.195	0.54942	T	10	0.027476847	0.00893	T	0.13567	0.81814	D	0.170	0.43303	.	.	0.616060826097	0.61296	0.6982932014633763	0.69770	0.446433868677	0.44513	0.650215744972	0.60017	T	0.169368	0.51672	T	-0.351806	0.04615	T	-0.302749	0.44433	T	0.0597555280976334	0.07129	T	0.908309	0.67561	D	0.2567585	0.48717	0.30730325	0.56752	0.2567585	0.48716	0.30730325	0.56751	1.931	0.00055	T	.	.	0.183	0.49324	B	.;.	.;.	4.270034	0.64956	24.8	0.98776773852281829	0.46065	0.81455	0.40855	D	AEFGBHCI	0.443075	0.50054	N	0.083730579189033	0.45705	2.822557	0.114395289323049	0.45285	2.794323	0.999999983995933	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	5.2	5.2	0.71720	3.266000	0.51272	2.372000	0.32435	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.793000	0.37436	0.0:0.0856:0.0:0.9144	9.289	0.36936	968	0.07033	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	865.98	33	chr20	54173363	.	T	A	865.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.018;DP=790;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=1.35;SOR=0.725	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1442	20	0	1	0
chr20	56445928	56445928	G	C	exonic	CASS4	.	nonsynonymous SNV	CASS4:NM_001164114:exon3:c.G326C:p.R109P	.	.	425	1089	8	0	0	8	0.00365965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.999	D	0.921	D	0.106	N	1.000	N	2.125	M	2.43	T	-1.046	T	0.106	T	0.408	3.195	16.70	-0.5	0.053	0.030	2.681	0.097	0.012402183307	0.0002	0.00139776	0.0013	9.626e-05	0.0002	0	0.0003	0.0004	0.0045	0.0077	0.0011513	178	154602	rs149841530	0.0007	0.0007	0.0004	0.0009	0.0082	0.0006	0.0006	0.0077	0.0075	0.0005	8.944e-05	0.0028	0	1.878e-05	0.0036	8.363e-05	0.0011	0.0082	0.0004	0.0004	0.0003	0.0005	0.0066	0.0003	0.0003	0.0048	0.0042	4.818e-05	0	0	0.0038	0	0	0	0.0002	0	0.0066	0.014	0.53172	D	0.213	0.51421	T	0.986	0.77913	D	0.769	0.65636	P	0.105942	0.02592	N	1.740750	1	0.08975	N	2.215	0.62545	M	2.43	0.21865	T	-3.57	0.68999	D	0.166	0.19459	-1.0460	0.15534	T	0.106	0.38636	T	10	0.0065027773	0.00147	T	0.012402	0.30939	T	0.097	0.27909	.	.	0.168933306366	0.16529	0.42310685389067393	0.42227	.	.	0.239176526666	0.02717	T	0.13167	0.46130	T	-0.487838	0.00668	T	-0.468535	0.25674	T	0.0947952644140671	0.11774	T	0.763224	0.39853	T	0.30827567	0.53636	0.22834937	0.47874	0.30827567	0.53636	0.22834937	0.47873	-3.345	0.14325	T	.	.	0.127	0.27100	B	.;.	.;.	1.604234	0.20508	14.78	0.9867108982920203	0.44470	0.15935	0.19152	N	AEFDBCI	0.187868	0.31515	N	-0.308841378077718	0.28811	1.592291	-0.540583565487438	0.21056	1.137306	0.999942353432912	0.47345	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.43	-0.5	0.11412	-0.026000	0.12340	-1.365000	0.05612	-0.109000	0.15193	0.010000	0.18352	0.000000	0.08366	0.002000	0.04165	0.2201:0.1235:0.5296:0.1268	2.681	0.04777	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1881.98	34	chr20	56445928	.	G	C	1881.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.931e+00;DP=913;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.36;ReadPosRankSum=-1.070e+00;SOR=0.715	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	20	0	1	0
chr20	56452021	56452021	C	T	exonic	CASS4	.	nonsynonymous SNV	CASS4:NM_001164114:exon5:c.C683T:p.P228L	.	.	432	1085	5	0	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.763	P	0.173	B	0.105	N	0.901	N	2.08	M	2.72	T	-0.844	T	0.054	T	0.118	0.522	6.826	4.99	2.462	0.739	16.816	0.116	0.00773284802539	.	0.000199681	0.0004	0	0	0.0001	0	1.499e-05	0.0011	0.0025	0.0003169	49	154602	rs199808780	0.0002	0.0002	0.0001	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	0	8.944e-05	0	5.038e-05	0	0.0010	8.993e-06	0.0004	0.0028	0.0001	0.0001	2.57e-05	0.0002	0.0031	6.506e-05	5.318e-05	0.0019	0.0015	0	0	0	0	0	0	0	1.47e-05	0	0.0031	0.321	0.13522	T	0.465	0.12421	T	0.651	0.40707	P	0.084	0.29270	B	0.105387	0.02587	N	1.855830	1	0.27692	N	2.14	0.59869	M	2.72	0.11947	T	-1.36	0.33798	N	0.119	0.10911	-0.8441	0.52372	T	0.054	0.22883	T	10	0.0059321523	0.00133	T	0.007733	0.20510	T	0.116	0.32463	0.186	0.09517	0.21737058555	0.21362	0.2770638353272919	0.27619	.	.	0.244354635477	0.03197	T	0.012599	0.11043	T	-0.623588	0.00104	T	-0.673133	0.07409	T	0.0362772715073025	0.03028	T	0.537046	0.18049	T	0.034564197	0.03903	0.049881324	0.07714	0.034564197	0.03903	0.049881324	0.07713	-1.042	0.01047	T	.	.	0.072	0.04198	B	.	.	1.297902	0.16994	12.89	0.23261144258535787	0.00975	0.28909	0.23681	N	AEFDBCI	0.162947	0.28917	N	-0.269465202340603	0.30334	1.690395	-0.355874315491979	0.26327	1.453487	0.999814827080499	0.43459	0.549168	0.22868	0	0.588066	0.40923	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	4.99	4.99	0.65942	1.935000	0.39802	2.525000	0.33139	-0.190000	0.09434	0.046000	0.21249	0.074000	0.22270	0.001000	0.02609	0.0:1.0:0.0:0.0	16.816	0.85597	986	0.02773	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1679.98	33	chr20	56452021	.	C	T	1679.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.090e-01;DP=797;ExcessHet=0.0000;FS=3.992;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.63;ReadPosRankSum=0.179;SOR=0.378	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1250	20	0	1	0
chr20	56524998	56524998	C	T	exonic	FAM209A	.	nonsynonymous SNV	FAM209A:NM_001012971:exon1:c.C190T:p.L64F,	.	.	431	1064	27	0	0	27	0.012529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.002	B	0.004	B	0.301	N	1.000	N	0.49	N	3.04	T	-0.984	T	0.011	T	0.117	1.471	10.86	-3.08	-0.884	-2.316	0.472	0.005	0.00221928690667	.	.	0.0001	0.0002	0.0003	0	0	0.0001	0	0.0001	3.84e-05	1	26028	rs2019515	1.028e-05	0.0004	6.814e-06	1.378e-05	0.0001	6.17e-06	4.89e-06	5.428e-05	4.065e-05	0	0	0	2.519e-05	0	0	2.701e-06	3.317e-05	0.0001	1.981e-05	0.0003	0	4.056e-05	0.0002	5.27e-06	2.46e-06	4.91e-06	1.84e-06	0	0	0	0	0	0	0	2.959e-05	0	0.0002	0.612	0.05436	T	0.773	0.04431	T	0.002	0.09854	B	0.004	0.10090	B	0.300512	0.03952	N	1.580940	1	0.08975	N	0.895	0.22405	L	3.04	0.08810	T	0.08	0.06026	N	0.062	0.03392	-0.9840	0.34069	T	0.011	0.03949	T	10	0.02841866	0.00974	T	0.002219	0.04206	T	0.005	0.00259	.	.	0.0297737177859	0.01360	0.03433896955149916	0.03381	0.844967140893	0.68244	.	.	.	0.003816	0.03222	T	-0.372816	0.03454	T	-0.773301	0.02661	T	0.0671559348702431	0.08246	T	0.462454	0.13421	T	0.038233127	0.05054	0.049408853	0.07543	0.038233127	0.05053	0.049408853	0.07542	-4.498	0.30863	T	.	.	0.104	0.19032	B	.	.	-0.469087	0.01968	0.170	0.96523846478246433	0.30126	0.00138	0.00846	N	AEFDGBI	0.019902	0.00734	N	-1.56715141177652	0.01437	0.06267459	-1.58472377924509	0.01749	0.07952678	0.0122422385556242	0.12299	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.51	-3.08	0.05022	-2.308000	0.01212	-2.687000	0.03467	-0.189000	0.09497	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3755:0.2307:0.1287:0.2652	0.472	0.00497	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05	1447.8	34	chr20	56524998	.	C	T	1447.8	.	AC=2;AF=0.050;AN=40;BaseQRankSum=3.82;DP=1816;ExcessHet=0.1072;FS=15.013;InbreedingCoeff=-0.0633;MLEAC=2;MLEAF=0.050;MQ=58.28;MQRankSum=-1.812e+01;QD=1.87;ReadPosRankSum=-2.959e+00;SOR=2.509	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485	18	0	2	1
chr20	56525005	56525005	T	C	exonic	FAM209A	.	nonsynonymous SNV	FAM209A:NM_001012971:exon1:c.T197C:p.V66A,	.	.	431	1066	25	0	0	25	0.0115902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.0	B	0.003	B	0.971	N	1.000	N	0.755	N	2.87	T	-0.930	T	0.022	T	0.2	1.063	9.340	3.17	0.040	0.452	9.126	0.095	0.00413359579284	.	.	0.0001	0.0002	0.0002	0	0	0.0001	0	0.0001	3.84e-05	1	26028	rs707554	1.164e-05	0.0002	8.172e-06	1.514e-05	0.0001	7.09e-06	5.8e-06	5.414e-05	4.055e-05	0	0	0	5.038e-05	1.874e-05	0	2.699e-06	3.314e-05	0.0001	2.637e-05	0.0003	2.578e-05	2.699e-05	0.0002	8.16e-06	5.15e-06	7.99e-06	2.99e-06	4.82e-05	0	0	0	0	0	0	1.476e-05	0	0.0002	0.222	0.18823	T	0.16	0.31427	T	0.0	0.02946	B	0.003	0.08700	B	0.971007	0.07778	N	1.017990	1	0.08975	N	1.295	0.32453	L	2.87	0.10386	T	-2.37	0.52289	N	0.136	0.13341	-0.9305	0.44066	T	0.022	0.09330	T	10	0.04262361	0.03030	T	0.004134	0.09900	T	0.095	0.27398	.	.	0.0138822411134	0.00435	0.11297937074249534	0.11225	0.256975690804	0.28266	.	.	.	0.01954	0.15549	T	-0.301829	0.08488	T	-0.671333	0.07523	T	0.0392241445291004	0.03550	T	0.368563	0.08641	T	0.049625613	0.08839	0.06962658	0.14694	0.049625613	0.08839	0.06962658	0.14694	-3.495	0.16361	T	.	.	0.069	0.03197	B	.	.	0.623466	0.09921	6.678	0.47635595541083875	0.03910	0.04211	0.09723	N	AEFDGBI	0.048429	0.08264	N	-1.39070259787422	0.02724	0.1207108	-1.34673273108721	0.03844	0.1801648	0.00889146502148676	0.11760	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.51	3.17	0.35510	0.454000	0.21539	1.500000	0.26949	-0.840000	0.02799	0.000000	0.06391	0.008000	0.19753	0.000000	0.00833	0.0:0.1709:0.0:0.8291	9.126	0.35973	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	935.11	34	chr20	56525005	.	T	C	935.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=5.08;DP=1439;ExcessHet=0.1072;FS=21.289;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.23;MQRankSum=-1.684e+01;QD=1.25;ReadPosRankSum=-1.917e+00;SOR=3.509	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485	19	0	2	0
chr20	56525028	56525028	C	A	exonic	FAM209A	.	nonsynonymous SNV	FAM209A:NM_001012971:exon1:c.C220A:p.Q74K,	.	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.003	N	1.000	N	-1.055	N	3.44	T	-0.928	T	0.004	T	0.059	-1.906	0.008	5.51	0.918	2.570	9.726	0.098	0.00461313702155	.	.	0.0008	0.0013	0.0003	0.0001	0.0002	0.0006	0	0.0026	0.0007956	123	154602	rs17407677	7.151e-05	0.0007	6.43e-05	7.881e-05	0.0007	6.011e-05	5.617e-05	0.0005	0.0004	0.0007	8.987e-05	0.0002	0.0001	0	0	4.879e-05	0.0001	7.045e-05	0.0001	0.0004	9.04e-05	0.0001	0.0003	6.547e-05	5.351e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	4.439e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.002593	0.36278	N	0.122015	1	0.19853	N	-1.5	0.00507	N	3.44	0.05375	T	2.95	0.00148	N	0.075	0.04913	-0.9276	0.44487	T	0.004	0.01400	T	10	0.0099900365	0.00224	T	0.004613	0.11409	T	0.098	0.28162	.	.	0.0297737177859	0.01360	0.10563315732390571	0.10493	0.270586652875	0.29581	.	.	.	0.009718	0.08828	T	-0.368858	0.03652	T	-0.767616	0.02847	T	0.00456141500834141	0.00049	T	0.286271	0.05116	T	0.045506917	0.07461	0.082792595	0.18922	0.045506917	0.07461	0.082792595	0.18922	-2.9	0.09143	T	.	.	0.038	0.00010	B	.	.	1.176085	0.15662	12.01	0.51014253988289371	0.04486	0.00193	0.01117	N	AEFDGBI	0.018941	0.00615	N	-1.10288815836098	0.06591	0.3038684	-0.899816948393615	0.12098	0.6203685	0.237514023181003	0.18534	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.51	5.51	0.81769	2.580000	0.45733	7.866000	0.71703	-0.121000	0.13915	0.944000	0.32806	1.000000	0.68203	0.037000	0.13953	0.8253:0.1747:0.0:0.0	9.726	0.39497	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	33.98	34	chr20	56525028	.	C	A	33.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.95;DP=1035;ExcessHet=0.0000;FS=39.828;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.67;MQRankSum=-1.220e+01;QD=0.11;ReadPosRankSum=-4.485e+00;SOR=5.155	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr20	56533533	56533533	G	T	exonic	FAM209B	.	nonsynonymous SNV	FAM209B:NM_001013646:exon1:c.G192T:p.L64F,	.	.	427	1065	30	0	0	30	0.0138889	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	0.0	B	0.001	B	0.304	N	1.000	N	0.49	N	3.04	T	-0.968	T	0.011	T	0.149	-0.960	0.325	-3.7	-1.037	-1.684	4.010	0.002	0.00255680456359	.	.	9.06e-05	0.0004	0	0	0	0.0001	0	0	3.84e-05	1	26028	rs781339391	1.575e-05	0.0003	1.907e-05	1.239e-05	0.0004	1.049e-05	8.76e-06	0.0002	0.0002	0.0004	2.238e-05	0	2.521e-05	1.877e-05	0	2.7e-06	4.973e-05	2.324e-05	0.0002	0.0006	0.0002	0.0002	0.0008	0.0002	0.0001	0.0006	0.0005	0.0008	0	0	0	0	0	0	0	0	0.0002	0.609	0.05485	T	0.769	0.04492	T	0.0	0.02946	B	0.001	0.04355	B	0.303922	0.03972	N	1.580090	1	0.08975	N	0.895	0.22405	L	3.04	0.08810	T	0.08	0.06026	N	0.07	0.04307	-0.9677	0.37673	T	0.011	0.04369	T	10	0.022401571	0.00558	T	0.002557	0.05150	T	0.002	0.00045	0.303	0.27164	0.0551355673512	0.04727	0.03222785619723955	0.03170	1.43542018666	0.85878	0.287637323141	0.08579	T	0.001182	0.00684	T	-0.359334	0.04168	T	-0.753935	0.03335	T	0.0112658102873799	0.00166	T	0.485551	0.14815	T	0.03416749	0.03783	0.041784458	0.04830	0.03416749	0.03782	0.041784458	0.04829	-4.127	0.25687	T	.	.	0.118	0.24088	B	.	.	-0.667708	0.01398	0.081	0.79492774416723921	0.12767	0.00124	0.00775	N	AEFDGBI	0.012398	0.00134	N	-1.69193262594221	0.00871	0.03768169	-1.76515577824009	0.00877	0.03921669	0.0023664782939477	0.09356	0.553676	0.25195	0	0.588015	0.36545	0	0.527494	0.11647	0	0.620846	0.47308	0	.	.	2.8	-3.7	0.04150	-2.074000	0.01463	-4.949000	0.01914	-0.426000	0.05215	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2385:0.3799:0.3817	4.010	0.09106	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	734.11	33	chr20	56533533	.	G	T	734.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.61;DP=2186;ExcessHet=0.1072;FS=12.290;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.51;MQRankSum=-1.755e+01;QD=0.97;ReadPosRankSum=-3.761e+00;SOR=2.256	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,102,1530	19	0	2	0
chr20	56533538	56533538	C	T	exonic	FAM209B	.	nonsynonymous SNV	FAM209B:NM_001013646:exon1:c.C197T:p.A66V,	.	.	427	1074	21	0	0	21	0.00968188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.669	N	1.000	N	-1.5	N	3.47	T	-0.924	T	0.004	T	0.092	-2.986	0.001	0.122	-0.100	0.502	5.063	0.020	0.00359669840548	.	.	6.589e-05	0.0002	0	0	0	8.99e-05	0	0	3.84e-05	1	26028	rs368304173	1.437e-05	0.0002	1.771e-05	1.101e-05	0.0004	9.24e-06	7.84e-06	0.0002	0.0002	0.0004	2.237e-05	0	0	0	0	2.699e-06	4.971e-05	2.322e-05	0.0002	0.0005	0.0002	0.0002	0.0008	0.0002	0.0001	0.0006	0.0005	0.0008	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.669238	0.10356	N	0.800389	1	0.08975	N	-1.965	0.00208	N	3.47	0.05188	T	2.3	0.00290	N	0.073	0.04668	-0.9242	0.44971	T	0.004	0.01400	T	10	0.023367971	0.00609	T	0.003597	0.08247	T	0.020	0.03691	.	.	0.0138822411134	0.00435	0.039349780777525274	0.03880	0.476556053232	0.46784	0.38573127985	0.23066	T	8.47E-4	0.00419	T	-0.393817	0.02541	T	-0.803468	0.01817	T	0.0241366401129241	0.01162	T	0.355964	0.08087	T	0.018656062	0.00388	0.035673358	0.02864	0.018656062	0.00388	0.035673358	0.02864	-3.53	0.16854	T	.	.	0.052	0.00229	B	.	.	-0.168141	0.03258	0.553	0.17422420602941649	0.00507	0.00022	0.00232	N	AEFDGBI	0.010295	0.00071	N	-1.71298199410479	0.00797	0.03442833	-1.65818619241602	0.01334	0.06020819	3.46912396237003E-4	0.06626	0.553676	0.25195	0	0.588015	0.36545	0	0.527494	0.11647	0	0.620846	0.47308	0	.	.	2.8	0.122	0.14005	0.564000	0.23265	2.147000	0.30884	-0.332000	0.05765	0.000000	0.06391	0.138000	0.23065	0.003000	0.05239	0.0:0.2961:0.0:0.7039	5.063	0.13906	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	473.11	33	chr20	56533538	.	C	T	473.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.73;DP=2168;ExcessHet=0.1072;FS=12.339;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.29;MQRankSum=-1.655e+01;QD=0.64;ReadPosRankSum=-3.327e+00;SOR=2.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,102,1530	19	0	2	0
chr20	57175004	57175004	T	C	exonic	BMP7	.	nonsynonymous SNV	BMP7:NM_001719:exon5:c.A962G:p.N321S,	.	.	421	1082	17	2	0	21	0.00961098	.	.	705564	Congenital_total_pulmonary_venous_return_anomaly|not_provided|BMP7-related_disorder	Human_Phenotype_Ontology:HP:0005153,Human_Phenotype_Ontology:HP:0005160,Human_Phenotype_Ontology:HP:0005175,MONDO:MONDO:0007130,MedGen:C4551903,OMIM:106700,Orphanet:99125|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.77	T	0.167	B	0.07	B	0.000	N	1.000	D	1.1	L	-0.03	T	-0.843	T	0.174	T	0.062	-0.736	0.860	4.0	0.788	3.862	10.598	0.176	.	0.0018	0.00758786	0.0059	0.0008	0.0037	0.0003	0	0.0046	0.0051	0.0221	0.0051358	794	154602	rs61733438	0.0037	0.0037	0.0032	0.0041	0.0198	0.0036	0.0035	0.0172	0.0169	0.0011	0.0048	0.0161	5.04e-05	0.0002	0.0198	0.0024	0.0051	0.0179	0.0034	0.0034	0.0031	0.0037	0.0203	0.0032	0.0031	0.0170	0.0158	0.0008	0	0.0084	0.0127	0.0002	9.413e-05	0.0374	0.0028	0.0085	0.0203	0.742	0.08286	T	0.76	0.08900	T	0.0	0.28604	B	0.0	0.27859	B	0.000004	0.62929	N	0.139157	0.999999	0.58761	D	2.3	0.65703	M	-0.92	0.80214	T	-0.87	0.23590	N	0.198	0.21839	-0.8433	0.52426	T	0.174	0.51785	T	10	0.004758686	0.00109	T	.	.	.	0.176	0.44373	.	.	0.733870232206	0.73149	0.5379691657174063	0.53721	0.536218814805	0.50959	0.52202296257	0.41911	T	0.461817	0.79843	T	-0.461241	0.00966	T	-0.42038	0.31031	T	0.00601530324700459	0.00066	T	0.873613	0.58243	D	0.08295598	0.19135	0.05584124	0.09868	0.066140905	0.14201	0.05584124	0.09867	-1.466	0.01696	T	.	.	0.087	0.12797	B	.;.;.	.;.;.	1.185591	0.15766	12.09	0.31205754460880536	0.01746	0.76984	0.37803	D	AEFGBCI	0.388958	0.46837	N	-0.626331477560761	0.18157	0.940369	-0.491525585198468	0.22386	1.215639	0.946058912107186	0.27688	0.706298	0.61202	0	0.491513	0.07743	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.1	4.0	0.45673	3.760000	0.54947	4.215000	0.42557	-0.186000	0.09761	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.0761:0.0:0.9239	10.598	0.44537	963	0.08280	Transforming growth factor-beta, C-terminal;TGF-beta, propeptide|Transforming growth factor-beta, C-terminal;Transforming growth factor-beta, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	939.98	36	chr20	57175004	.	T	C	939.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.56;DP=781;ExcessHet=0.0000;FS=0.929;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.03;ReadPosRankSum=1.09;SOR=0.892	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1081	20	0	1	0
chr20	57407757	57407757	G	A	exonic	RBM38	.	nonsynonymous SNV	RBM38:NM_017495:exon4:c.G631A:p.V211M	.	.	428	1064	29	1	0	31	0.0143585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.012	B	0.004	B	0.080	N	0.998	N	0.57	N	1.41	T	-1.102	T	0.028	T	0.152	0.740	7.928	-9.95	-2.001	-0.196	7.651	0.019	.	0.0042	0.00599042	0.0084	0.0017	0.0154	0.0006	0.0045	0.0071	0.0093	0.0164	0.0061642	953	154602	rs201066490	0.0065	0.0065	0.0063	0.0068	0.0147	0.0064	0.0064	0.0140	0.0137	0.0009	0.0103	0.0173	0.0002	0.0034	0.0069	0.0060	0.0070	0.0147	0.0047	0.0047	0.0046	0.0049	0.0157	0.0045	0.0043	0.0129	0.0118	0.0011	0.0175	0.0058	0.0181	0.0006	0.0024	0.0102	0.0057	0.0047	0.0157	0.115	0.31834	T	0.149	0.32568	T	0.012	0.16265	B	0.004	0.10090	B	0.080483	0.02349	N	1.912780	0.880397	0.28059	N	1.295	0.32453	L	1.41	0.33412	T	-0.2	0.12099	N	0.076	0.09490	-1.1020	0.03857	T	0.028	0.11838	T	10	0.0036640763	0.00067	T	.	.	.	0.019	0.03383	.	.	0.487798543462	0.48413	0.4323868510527391	0.43155	0.100397253384	0.11348	0.590962946415	0.51630	T	0.004799	0.11621	T	-0.57872	0.00196	T	-0.591744	0.13515	T	0.00342950142966028	0.00036	T	0.528747	0.17479	T	0.022766342	0.00963	0.036473185	0.03101	0.022766342	0.00963	0.036473185	0.03101	-5.337	0.40308	T	.	.	0.105	0.19316	B	.;.	.;.	-0.365235	0.02346	0.254	0.7602595964562967	0.11304	0.24817	0.22510	N	AEFDGBHCI	.	.	.	-1.53456264575026	0.01627	0.07113044	-1.63494988497937	0.01455	0.06584296	0.999999999938896	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.98	-9.95	0.00369	-0.078000	0.11338	-5.660000	0.01639	-1.649000	0.00828	0.446000	0.26534	0.000000	0.08366	0.007000	0.07825	0.3395:0.3704:0.2901:0.0	7.651	0.27513	834	0.38640	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1353.98	34	chr20	57407757	.	G	A	1353.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.433;DP=899;ExcessHet=0.0000;FS=0.672;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=1.02;SOR=0.605	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1128	20	0	1	0
chr20	57610337	57610337	G	A	exonic	ZBP1	.	nonsynonymous SNV	ZBP1:NM_001160418:exon6:c.C680T:p.S227L	.	.	425	1090	6	1	0	8	0.00365631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.003	B	0.001	B	0.274	N	1.000	N	0.625	N	2.78	T	-0.999	T	0.035	T	0.141	0.758	8.014	-2.01	-0.842	0.177	6.254	0.024	0.00276879610424	0.0005	0.000399361	0.0002	0.0013	0	0	0	5.994e-05	0	0.0008	0.000207	32	154602	rs147660947	0.0001	0.0001	0.0001	0.0001	0.0017	0.0001	0.0001	0.0009	0.0007	0.0007	6.708e-05	0	0	0	0.0017	5.576e-05	0.0003	0.0007	0.0003	0.0003	0.0004	0.0003	0.0011	0.0003	0.0002	0.0008	0.0007	0.0011	0	6.534e-05	0	0.0002	0	0	4.411e-05	0.0005	0	0.208	0.21224	T	0.475	0.14544	T	0.003	0.11197	B	0.001	0.04355	B	0.274332	0.03792	N	1.660540	1	0.08975	N	0.46	0.12951	N	2.77	0.19166	T	-3.04	0.66325	D	0.198	0.22357	-0.9986	0.30311	T	0.035	0.14900	T	10	0.011058569	0.00243	T	0.002769	0.05752	T	0.024	0.04979	.	.	0.0297737177859	0.01360	0.13514105519119388	0.13438	0.0416388823659	0.04473	0.351839631796	0.18193	T	0.020933	0.16390	T	-0.610148	0.00126	T	-0.70556	0.05527	T	0.00400829358743086	0.00043	T	0.522848	0.18591	T	0.069611475	0.15265	0.078054175	0.17447	0.069611475	0.15265	0.078054175	0.17447	-3.735	0.20999	T	.	.	0.088	0.11510	B	.;.	.;.	0.335904	0.07097	3.670	0.73928704971111314	0.10506	0.02582	0.07135	N	AEFDGBI	0.077967	0.15718	N	-1.63501630046524	0.01099	0.04773893	-1.6770460352064	0.01242	0.05597528	0.00569621942886428	0.11016	0.615465	0.37627	0	0.633656	0.55848	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.98	-2.01	0.07003	0.136000	0.15794	0.182000	0.15643	-0.692000	0.04118	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3565:0.1292:0.5143:0.0	6.254	0.20071	807	0.43470	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1806.98	37	chr20	57610337	.	G	A	1806.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.559;DP=878;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.66;ReadPosRankSum=0.551;SOR=0.680	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1464	20	0	1	0
chr20	57613163	57613163	C	T	exonic	ZBP1	.	nonsynonymous SNV	ZBP1:NM_001160418:exon4:c.G445A:p.G149S	.	.	424	1043	53	2	0	57	0.0265982	.	.	705567	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.05	D	0.963	D	0.379	B	0.001	D	1.000	N	0.75	N	2.51	T	-1.042	T	0.015	T	0.14	2.313	13.69	1.1	0.329	0.347	3.844	0.086	.	0.0065	0.00838658	0.0087	0.0016	0.0057	0.0003	0.0003	0.0094	0.0156	0.0200	0.0082858	1281	154602	rs41304401	0.0089	0.0089	0.0084	0.0094	0.0369	0.0087	0.0087	0.0329	0.0313	0.0019	0.0070	0.0114	0	0.0010	0.0369	0.0089	0.0100	0.0181	0.0072	0.0072	0.0072	0.0072	0.0149	0.0068	0.0067	0.0133	0.0127	0.0016	0.0022	0.0149	0.0104	0.0002	0.0004	0.0340	0.0095	0.0156	0.0135	0.05	0.40573	D	0.137	0.35455	T	0.938	0.52538	P	0.121	0.32300	B	0.000732	0.42129	D	0.000000	1	0.08975	N	1.115	0.28702	L	2.51	0.19311	T	-3.84	0.75058	D	0.15	0.16725	-1.0423	0.16621	T	0.015	0.05946	T	10	0.006138891	0.00138	T	.	.	.	0.086	0.25016	.	.	0.0954503805726	0.09146	0.2905044889027909	0.28963	0.0492264015574	0.05384	0.260742336512	0.04980	T	0.041566	0.25900	T	-0.611551	0.00124	T	-0.636291	0.09943	T	0.0344413448309581	0.02713	T	0.463454	0.13490	T	0.10971222	0.25937	0.10917021	0.26306	0.10971222	0.25937	0.10917021	0.26306	-3.215	0.18016	T	.	.	0.086	0.11558	B	.;.;.	.;.;.	1.213435	0.16064	12.29	0.98058157835877602	0.37921	0.09510	0.15250	N	AEFGBI	0.099376	0.20005	N	-0.780357890943715	0.13821	0.6837764	-0.914035834607524	0.11763	0.6012403	0.00280640418808576	0.09719	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.13	1.1	0.19578	0.353000	0.19868	0.577000	0.19666	-0.832000	0.02862	0.253000	0.24879	0.061000	0.22037	0.000000	0.00833	0.235:0.6344:0.0:0.1306	3.844	0.08435	812	0.42537	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2589.98	34	chr20	57613163	.	C	T	2589.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=887;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=0.398;SOR=0.726	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1324	20	0	1	0
chr20	58439019	58439019	T	G	exonic	VAPB	.	nonsynonymous SNV	VAPB:NM_004738:exon4:c.T390G:p.D130E,	Amyotrophic lateral sclerosis 8, Autosomal dominant;Spinal muscular atrophy, late-onset, Finkel type, Autosomal dominant	.	5	1509	8	0	0	8	0.00264375	.	.	257379	Amyotrophic_lateral_sclerosis_type_8|Inborn_genetic_diseases|not_specified|Adult-onset_proximal_spinal_muscular_atrophy,_autosomal_dominant|not_provided	MONDO:MONDO:0012077,MedGen:C1837728,OMIM:608627,Orphanet:803|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0008453,MedGen:C1854058,OMIM:182980,Orphanet:209335|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.94	T	0.0	B	0.001	B	0.000	D	1.000	D	0.4	N	-0.05	T	-1.017	T	0.096	T	0.038	1.556	11.16	4.38	2.084	1.686	6.134	0.097	0.00767697690241	0.0007	0.000998403	0.0014	0	0.0042	0	0.0003	0.0015	0	0.0007	0.001216	188	154602	rs146459055	0.0007	0.0007	0.0007	0.0008	0.0042	0.0007	0.0007	0.0029	0.0024	2.989e-05	0.0025	0.0054	0	0.0003	0.0042	0.0006	0.0010	0.0007	0.0007	0.0007	0.0007	0.0006	0.0014	0.0006	0.0005	0.0008	0.0006	7.216e-05	0	0.0012	0.0049	0	0.0002	0.0068	0.0007	0.0019	0.0014	0.269	0.16091	T	0.599	0.07972	T	0.0	0.02946	B	0.001	0.04355	B	0.000018	0.62929	D	0.152643	0.996154	0.81001	D	0.85	0.21244	L	-0.05	0.63403	T	-1.42	0.34992	N	0.677	0.68429	-1.0168	0.24755	T	0.096	0.36263	T	10	0.00932765	0.00211	T	0.007677	0.20378	T	0.097	0.27909	0.277	0.23004	0.147330786459	0.14319	0.05608839054146964	0.05549	0.419117525205	0.42472	0.478927195072	0.35909	T	0.131245	0.46063	T	-0.549263	0.00295	T	-0.566992	0.15726	T	0.017787502238044	0.00507	T	0.846215	0.52631	T	0.11105706	0.26245	0.09971356	0.23817	0.10459912	0.24728	0.09309196	0.21971	-2.886	0.09004	T	0.11038164115268624	0.09323	0.099	0.16713	B	.	.	2.891253	0.38292	20.7	0.95911670044801467	0.28161	0.72480	0.35475	D	AEFBCI	0.236160	0.35864	N	-0.38856735492756	0.25875	1.407904	-0.155541574992431	0.33197	1.896382	0.999984446272401	0.51787	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.48	4.38	0.52019	1.695000	0.37381	1.864000	0.29342	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1438:0.0751:0.0:0.781	6.134	0.19438	506	0.75555	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.04762	1666.08	33	chr20	58439019	.	T	G	1666.08	.	AC=2;AF=0.048;AN=42;DP=732;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.73;SOR=0.997	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1087	20	1	0	0
chr20	58467350	58467350	C	T	exonic	APCDD1L	.	nonsynonymous SNV	APCDD1L:NM_153360:exon3:c.G497A:p.R166Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.196	B	0.017	B	0.278	N	1.000	N	1.725	L	2.28	T	-1.010	T	0.027	T	0.088	1.459	10.82	-3.64	-0.784	-0.401	6.417	0.024	0.0273775042212	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1473344087	2.257e-06	4.788e-06	1.483e-06	3.054e-06	1.405e-05	6e-07	1.7e-07	3.2e-07	1.2e-07	0	0	0	0	0	0	1.893e-06	0	1.405e-05	6.575e-06	6.568e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.313	0.13879	T	0.203	0.27325	T	0.116	0.26475	B	0.012	0.16012	B	0.278216	0.14995	N	0.652107	1	0.08975	N	0.615	0.15706	N	2.28	0.17271	T	-1.35	0.33598	N	0.083	0.05929	-1.0105	0.26760	T	0.027	0.11751	T	10	0.051164657	0.04956	T	0.027378	0.50196	D	0.024	0.04979	.	.	0.0297737177859	0.01360	0.5005420416875103	0.49975	0.357191445614	0.37446	0.518529891968	0.41418	T	0.001945	0.01356	T	-0.360176	0.04120	T	-0.755144	0.03289	T	0.150233089923859	0.17122	T	0.607939	0.22935	T	0.037757333	0.04900	0.051912818	0.08450	0.037757333	0.04900	0.051912818	0.08450	-4.158	0.26141	T	.	.	0.083	0.09239	B	.	.	0.365084	0.07376	3.998	0.9830951630567708	0.40125	0.10508	0.15996	N	AEFDBI	0.087715	0.17785	N	-1.00145853340321	0.08573	0.4025057	-1.10191486339967	0.07663	0.3736651	0.0640255069959793	0.15316	0.580535	0.33130	0	0.573888	0.26702	0	0.603688	0.36954	0	0.604944	0.38103	0	.	.	5.12	-3.64	0.04225	-0.370000	0.07578	-3.416000	0.02803	0.589000	0.31548	0.000000	0.06391	0.000000	0.08366	0.482000	0.28611	0.0:0.3781:0.1247:0.4972	6.417	0.20924	485	0.77085	APCDD1 domain|APCDD1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	413.98	28	chr20	58467350	.	C	T	413.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.052;DP=709;ExcessHet=0.0000;FS=1.258;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=-9.500e-02;SOR=0.941	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,106,1184	20	0	1	0
chr20	58854515	58854541	CAGCCGATCCTGACTCCGGGGCATTCG	-	exonic	GNAS	.	nonframeshift deletion	GNAS:NM_001077490:exon1:c.1063_1089del:p.L358_I366del	ACTH-independent macronodular adrenal hyperplasia, Isolated cases;Acromegaly, somatic;McCune-Albright syndrome, somatic, mosaic;Osseous heteroplasia, progressive, Autosomal dominant;Pseudohypoparathyroidism Ia, Autosomal dominant;Pseudohypoparathyroidism Ib, Autosomal dominant;Pseudohypoparathyroidism Ic, Autosomal dominant;Pseudopseudohypoparathyroidism, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1208443791	7.68e-06	7.534e-06	2.775e-06	1.265e-05	0.0002	4.12e-06	3.01e-06	3.12e-06	2.25e-06	0	0	0	0	0	0.0002	7.251e-06	1.684e-05	1.199e-05	6.674e-06	6.633e-06	1.304e-05	0	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1189.94	34	chr20	58854514	.	CCAGCCGATCCTGACTCCGGGGCATTCG	C	1189.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.264;DP=857;ExcessHet=0.0000;FS=6.450;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=0.094;SOR=1.355	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1119	20	0	1	0
chr20	59023753	59023753	G	A	exonic	TUBB1	.	nonsynonymous SNV	TUBB1:NM_030773:exon4:c.G326A:p.G109E,	Macrothrombocytopenia, autosomal dominant, TUBB1-related, Autosomal dominant	YES	0	1520	2	0	0	2	0.000657462	.	.	615619	Macrothrombocytopenia|Thrombocytopenia|not_provided|Macrothrombocytopenia,_isolated,_1,_autosomal_dominant|TUBB1-related_disorder	Human_Phenotype_Ontology:HP:0040185,MedGen:C2751260|Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034|MedGen:C3661900|MONDO:MONDO:0800047,MedGen:C5676892,OMIM:613112,Orphanet:140957|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	5.38	H	-0.97	T	1.012	D	0.819	D	0.979	3.400	17.48	5.39	2.537	9.824	18.114	0.779	0.170336658744	0.0011	0.000798722	0.0009	0.0002	8.637e-05	0	0.0006	0.0015	0	6.056e-05	0.0008797	136	154602	rs41303899	0.0013	0.0013	0.0013	0.0012	0.0015	0.0012	0.0012	0.0015	0.0015	0.0004	8.944e-05	3.826e-05	0	0.0007	0.0005	0.0015	0.0008	2.319e-05	0.0009	0.0009	0.0009	0.0009	0.0015	0.0008	0.0007	0.0013	0.0012	0.0002	0	0.0005	0	0.0002	0.0008	0	0.0015	0.0014	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	5.235	0.99964	H	-0.97	0.75670	T	-5.37	0.84882	D	0.917	0.91968	1.012	0.97387	D	0.819	0.93912	D	10	0.5017678	0.61589	D	0.170337	0.84792	D	0.779	0.92623	.	.	0.949475789329	0.94894	0.9180012566344369	0.91776	0.863764543004	0.69092	0.794248580933	0.81088	T	0.666875	0.90068	D	0.0964125	0.63902	D	0.346699	0.90185	D	0.214118916495516	0.21166	T	0.873013	0.58094	D	0.9470945	0.95970	0.9291467	0.97036	0.93230987	0.94468	0.93363816	0.97344	-12.216	0.85887	D	0.7529831719877856	0.83504	0.996	0.95995	P	.	.	4.313908	0.65970	24.9	0.99762127289978564	0.85172	0.98171	0.80217	D	AEFBCI	0.921223	0.89438	D	1.11622411434772	0.98423	18.23768	0.926331347383901	0.96621	14.92586	1.0	0.98316	0.498214	0.20090	0	0.379588	0.06130	0	0.572659	0.19721	0	0.711	0.71501	0	.	.	5.39	5.39	0.77615	10.003000	0.99689	11.851000	0.98077	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.095000	0.18041	0.0:0.0:1.0:0.0	18.114	0.89476	973	0.05605	Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2544.98	37	chr20	59023753	.	G	A	2544.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=880;ExcessHet=0.0000;FS=3.529;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.06;ReadPosRankSum=-1.616e+00;SOR=0.486	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1037	20	0	1	0
chr20	59024346	59024346	C	T	exonic	TUBB1	.	nonsynonymous SNV	TUBB1:NM_030773:exon4:c.C919T:p.R307C,	Macrothrombocytopenia, autosomal dominant, TUBB1-related, Autosomal dominant	.	0	1498	22	2	0	26	0.00860357	.	.	705571	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.998	D	0.745	P	0.000	D	1.000	D	2.39	M	-1.53	D	0.010	D	0.361	T	0.297	5.069	31	5.41	2.545	6.064	18.156	0.546	.	0.0086	0.0111821	0.0044	0.0248	0.0067	0	0.0002	0.0017	0.0077	0.0051	0.0042043	650	154602	rs62639974	0.0024	0.0024	0.0024	0.0023	0.0272	0.0023	0.0023	0.0257	0.0251	0.0272	0.0076	0.0026	0	0.0005	0.0139	0.0013	0.0045	0.0043	0.0094	0.0094	0.0094	0.0095	0.0270	0.0090	0.0089	0.0256	0.0251	0.0270	0	0.0097	0.0020	0	9.407e-05	0.0374	0.0015	0.0142	0.0041	0.0	0.91255	D	0.021	0.58089	D	0.998	0.73220	D	0.745	0.55870	P	0.000445	0.44317	D	0.265266	1	0.81001	D	2.28	0.64929	M	-1.53	0.81559	D	-2.3	0.51157	N	0.271	0.30687	0.010	0.82461	D	0.361	0.72277	T	10	0.0141272545	0.00298	T	.	.	.	0.546	0.81135	.	.	0.892049687419	0.89097	0.565960005115113	0.56523	0.689860010486	0.60504	0.283094763756	0.07928	T	0.587559	0.86589	D	-0.29679	0.08966	T	-0.178823	0.56633	T	0.036190457100519	0.03015	T	0.972453	0.90064	D	0.35295853	0.57296	0.25138327	0.50748	0.39881447	0.60651	0.31276	0.57276	-4.435	0.30028	T	0.27746049455755273	0.37220	0.160	0.35288	B	.	.	4.454747	0.69278	25.4	0.99932022902227668	0.99439	0.95248	0.63988	D	AEFDGBCI	0.843418	0.76045	D	0.724369520006627	0.81230	7.473723	0.713758310210403	0.83425	8.017768	1.0	0.98316	0.498214	0.20090	0	0.379588	0.06130	0	0.463624	0.06942	0	0.711	0.71501	0	.	.	5.41	5.41	0.78313	6.145000	0.71533	4.861000	0.45471	0.599000	0.40250	0.986000	0.36153	0.995000	0.32472	0.996000	0.76049	0.0:1.0:0.0:0.0	18.156	0.89622	972	0.05671	Tubulin/FtsZ, 2-layer sandwich domain|Tubulin/FtsZ, 2-layer sandwich domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1851.98	43	chr20	59024346	.	C	T	1851.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.080;DP=1461;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=-1.422e+00;SOR=0.657	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr20	59577582	59577582	G	A	exonic	PHACTR3	.	nonsynonymous SNV	PHACTR3:NM_001199505:exon1:c.G74A:p.R25Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.001	B	0.0	B	.	.	1.000	N	0	N	1.92	T	-0.986	T	0.006	T	0.086	0.749	7.973	-3.51	-0.323	-0.229	4.524	0.016	.	.	0.00479233	0	.	.	.	.	.	.	.	0.0014215	37	26028	rs140857038	0.0004	0.0003	0.0004	0.0003	0.0150	0.0004	0.0003	0.0137	0.0132	0.0150	0.0004	0	8.116e-05	0	0.0004	1.547e-05	0.0014	0	0.0045	0.0045	0.0047	0.0044	0.0159	0.0043	0.0042	0.0149	0.0145	0.0159	0	0.0011	0	0	0	0	4.424e-05	0.0033	0.0002	0.624	0.05245	T	0.032	0.53426	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.92	0.23082	T	0.28	0.04233	N	0.073	0.04668	-0.9857	0.33663	T	0.006	0.02018	T	9	0.005931139	0.00133	T	.	.	.	0.016	0.02506	.	.	0.174091166621	0.17034	.	.	.	.	.	.	.	.	.	.	-0.690346	0.00042	T	-0.752086	0.03405	T	0.0614775856086693	0.07400	T	0.523548	0.17131	T	.	.	.	.	.	.	.	.	-5.375	0.40678	T	.	.	0.321	0.54551	B	.	.	0.679253	0.10477	7.194	0.98192253992808298	0.39045	0.00075	0.00520	N	AEFDBI	0.014725	0.00247	N	-1.24686562761538	0.04341	0.1957339	-1.2880131695299	0.04592	0.2169523	0.0146497909676114	0.12621	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.562822	0.20929	0	.	.	3.16	-3.51	0.04397	-0.839000	0.04475	0.400000	0.17989	-0.446000	0.05156	0.000000	0.06391	0.932000	0.28569	0.200000	0.21896	0.5794:0.1909:0.2297:0.0	4.524	0.11378	983	0.02875	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	183.99	14	chr20	59577582	.	G	A	183.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.800e-02;DP=344;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0253;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=-4.500e-01;SOR=0.593	GT:AD:DP:GQ:PL	0/0:16,0:16:48:0,48,446	20	0	1	0
chr20	59577585	59577585	A	T	exonic	PHACTR3	.	nonsynonymous SNV	PHACTR3:NM_001199505:exon1:c.A77T:p.D26V,	.	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.464	P	0.07	B	.	.	1.000	N	0	N	1.84	T	-1.044	T	0.026	T	0.177	2.307	13.67	2.02	1.193	1.645	4.486	0.026	0.144744582646	.	.	0	.	.	.	.	.	.	.	0.0009221	24	26028	rs765998050	0.0024	0.0018	0.0024	0.0024	0.0027	0.0023	0.0023	0.0026	0.0026	0.0005	0.0009	0	0	9.768e-05	0.0004	0.0027	0.0018	0.0007	0.0018	0.0018	0.0018	0.0017	0.0048	0.0016	0.0015	0.0039	0.0036	0.0005	0	0.0048	0	0	0	0	0.0025	0.0029	0.0008	0.02	0.49613	D	0.102	0.38450	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.84	0.24656	T	-1.07	0.27876	N	0.259	0.29313	-1.0444	0.16000	T	0.026	0.10954	T	9	0.056119114	0.06241	T	0.144745	0.82698	D	0.026	0.05648	.	.	0.138757226776	0.13463	.	.	.	.	.	.	.	.	.	.	-0.544357	0.00315	T	-0.560875	0.16295	T	0.127463275029064	0.15145	T	0.524448	0.17180	T	.	.	.	.	.	.	.	.	-3.214	0.12652	T	.	.	0.315	0.54138	B	.	.	2.341435	0.30010	18.30	0.98714893194240771	0.45113	0.06951	0.12977	N	AEFDBI	0.036067	0.04746	N	-0.669360132881514	0.16898	0.8650071	-0.690847767868104	0.17189	0.9128601	0.00514493218213338	0.10842	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.562822	0.20929	0	.	.	3.16	2.02	0.25641	1.238000	0.32310	2.050000	0.30341	0.550000	0.28109	0.045000	0.21207	0.986000	0.30841	0.159000	0.20615	0.8371:0.0:0.1629:0.0	4.486	0.11201	983	0.02875	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	125.99	15	chr20	59577585	.	A	T	125.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.319;DP=358;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0187;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.75;ReadPosRankSum=0.619;SOR=0.693	GT:AD:DP:GQ:PL	0/0:19,0:19:57:0,57,489	20	0	1	0
chr20	59880392	59880392	A	G	exonic	SYCP2	.	nonsynonymous SNV	SYCP2:NM_014258:exon31:c.T2852C:p.I951T,	.	.	491	1010	19	2	0	23	0.011258	.	.	742490	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.873	P	0.523	P	0.116	N	0.676	D	1.905	M	1.99	T	-0.852	T	0.085	T	0.423	3.079	16.28	4.76	2.261	3.992	10.685	0.080	.	0.0023	0.00279553	0.0075	0.0028	0.0026	0.0002	0.0015	0.0053	0.0129	0.0242	0.004269	660	154602	rs151163205	0.0033	0.0033	0.0027	0.0039	0.0199	0.0032	0.0032	0.0191	0.0188	0.0018	0.0014	0.0110	2.54e-05	0.0011	0.0141	0.0021	0.0036	0.0199	0.0028	0.0028	0.0026	0.0029	0.0170	0.0026	0.0025	0.0140	0.0129	0.0020	0	0.0009	0.0118	0.0002	0.0008	0	0.0028	0.0024	0.0170	0.002	0.72154	D	0.089	0.40426	T	0.873	0.47975	P	0.523	0.48316	P	0.115937	0.19214	N	0.526307	0.675527	0.33183	D	2.36	0.67893	M	1.99	0.25996	T	-1.73	0.41428	N	0.549	0.57518	-0.8524	0.51802	T	0.085	0.33071	T	10	0.0054754317	0.00121	T	.	.	.	0.080	0.23350	.	.	0.198222871337	0.19423	0.1296067380900451	0.12885	0.181139919638	0.20371	0.383799672127	0.22794	T	0.325304	0.69603	T	-0.426602	0.01555	T	-0.370624	0.36816	T	0.0361782947290068	0.03013	T	0.759724	0.39899	T	0.17678405	0.38609	0.18749948	0.41986	0.17678405	0.38609	0.18749948	0.41985	-3.604	0.17915	T	.	.	0.366	0.65087	A	.;.;.	.;.;.	3.250656	0.44415	21.9	0.99779029259715812	0.86606	0.89916	0.50699	D	AEDI	0.323592	0.42573	N	0.398077559212782	0.61317	4.331235	0.410644987295162	0.62227	4.434644	0.00395175141296271	0.10355	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.92	4.76	0.60189	4.616000	0.60900	6.810000	0.56646	0.691000	0.84096	0.986000	0.36153	0.976000	0.30059	0.975000	0.56047	0.8401:0.1599:0.0:0.0	10.685	0.45037	994	0.00715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1752.11	36	chr20	59880392	.	A	G	1752.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.09;DP=830;ExcessHet=0.1072;FS=1.215;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=2.13;SOR=0.832	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1119	19	0	2	0
chr20	59892042	59892042	T	G	exonic	SYCP2	.	nonsynonymous SNV	SYCP2:NM_014258:exon24:c.A2312C:p.E771A,	.	.	459	1049	11	3	0	17	0.00803783	.	.	2476868	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.56	T	0.006	B	0.004	B	0.707	N	1.000	N	0.345	N	2.48	T	-0.947	T	0.013	T	0.143	-1.232	0.058	-0.432	0.059	-0.725	3.956	0.004	0.0041464142265	0.0018	0.00359425	0.0028	0.0003	0.0020	0	0	0.0026	0.0033	0.0088	0.0026778	414	154602	rs117549957	0.0026	0.0026	0.0024	0.0029	0.0094	0.0026	0.0025	0.0080	0.0078	0.0004	0.0024	0.0073	0	5.639e-05	0.0094	0.0023	0.0033	0.0086	0.0021	0.0021	0.0021	0.0021	0.0052	0.0019	0.0018	0.0036	0.0031	0.0003	0	0.0030	0.0072	0	9.418e-05	0.0272	0.0028	0.0052	0.0052	0.725	0.04443	T	0.737	0.05036	T	0.006	0.13644	B	0.004	0.10090	B	0.707332	0.10043	N	0.876643	1	0.08975	N	0.69	0.16971	N	2.48	0.18248	T	-0.15	0.10833	N	0.069	0.06720	-0.9474	0.41414	T	0.013	0.05273	T	10	0.0046943426	0.00099	T	0.004146	0.09931	T	0.004	0.00165	.	.	0.043077524339	0.03247	0.15897107292305326	0.15818	0.0303572808084	0.03137	0.230584919453	0.02011	T	0.080479	0.36372	T	-0.653147	0.00069	T	-0.704721	0.05572	T	0.00172586463314303	0.00018	T	0.643236	0.25495	T	0.03463505	0.03925	0.031656172	0.01785	0.03463505	0.03924	0.031656172	0.01784	-4.121	0.25599	T	.	.	0.096	0.19438	B	.;.;.	.;.;.	0.149478	0.05419	1.894	0.32628396023178846	0.01901	0.03423	0.08551	N	AEFI	0.066263	0.12968	N	-1.26149894413797	0.04149	0.1867449	-1.2456061327886	0.05196	0.2470095	5.05074692332387E-5	0.03989	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.32	-0.432	0.11678	-0.564000	0.06027	0.080000	0.14378	-1.309000	0.01237	0.000000	0.06391	0.000000	0.08366	0.589000	0.31115	0.2797:0.4687:0.0:0.2516	3.956	0.08887	994	0.00715	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1041.98	39	chr20	59892042	.	T	G	1041.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.231;DP=811;ExcessHet=0.0000;FS=1.507;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.14;ReadPosRankSum=-7.230e-01;SOR=0.540	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1355	20	0	1	0
chr20	59939376	59939376	C	T	exonic	PPP1R3D	.	nonsynonymous SNV	PPP1R3D:NM_006242:exon1:c.G556A:p.D186N,	.	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.997	D	0.951	D	0.000	D	1.000	D	1.76	L	0.02	T	-0.617	T	0.329	T	0.041	4.947	28.7	5.22	2.432	4.675	14.300	0.239	0.0500333142314	.	0.000199681	0.0001	0	9.176e-05	0	0	1.698e-05	0.0013	0.0007	9.7e-05	15	154602	rs539093057	4.663e-05	4.652e-05	2.32e-05	7.029e-05	0.0010	3.737e-05	3.42e-05	0.0005	0.0003	0	2.24e-05	0	0	0	0.0010	8.996e-06	0.0001	0.0005	1.969e-05	1.968e-05	2.569e-05	1.342e-05	0.0004	5.24e-06	2.45e-06	7.29e-05	3.029e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.175	0.22400	T	0.174	0.30045	T	0.997	0.70673	D	0.951	0.68939	D	0.000095	0.51296	D	0.075448	1	0.81001	D	2.475	0.71894	M	0.02	0.62318	T	-2.26	0.50502	N	0.188	0.20528	-0.6172	0.64105	T	0.329	0.69690	T	10	0.12306312	0.23355	T	0.050033	0.64070	D	0.239	0.54358	0.447	0.50629	0.747169402473	0.74489	0.24969765005284084	0.24883	1.15709495446	0.79382	0.661203384399	0.61582	T	0.094988	0.39528	T	-0.438652	0.01317	T	-0.492024	0.23180	T	0.27850666642189	0.24108	T	0.873313	0.58144	D	0.17689697	0.38626	0.13931072	0.33243	0.17689697	0.38626	0.13931072	0.33242	-9.029	0.67884	D	.	.	0.375	0.58108	A	.	.	5.299642	0.88975	29.8	0.99878981282521662	0.95572	0.95627	0.65481	D	AEFDGBHCI	0.641873	0.61905	D	0.514183067896599	0.67927	5.147597	0.519776391079859	0.69322	5.343836	0.99999999998478	0.74766	0.652421	0.48094	0	0.405561	0.06353	1	0.64067	0.45733	0	0.604282	0.37693	0	.	.	5.22	5.22	0.72285	4.779000	0.62068	7.425000	0.58746	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2208:0.7792:0.0:0.0	14.300	0.65895	993	0.01300	CBM21 (carbohydrate binding type-21) domain|CBM21 (carbohydrate binding type-21) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2583.98	37	chr20	59939376	.	C	T	2583.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.043;DP=925;ExcessHet=0.0000;FS=0.483;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.19;ReadPosRankSum=0.434;SOR=0.764	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1222	20	0	1	0
chr20	59939439	59939439	C	T	exonic	PPP1R3D	.	nonsynonymous SNV	PPP1R3D:NM_006242:exon1:c.G493A:p.A165T,	.	.	431	1071	19	1	0	21	0.00970874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.001	B	0.001	B	0.901	N	0.735	N	0.345	N	0.51	T	-1.040	T	0.047	T	0.058	2.133	13.09	-0.983	0.148	0.124	1.585	0.029	0.0313602730276	0.0017	0.00359425	0.0029	0.0001	0.0020	0	0	0.0026	0.0025	0.0084	0.002445	378	154602	rs149736385	0.0026	0.0026	0.0024	0.0029	0.0092	0.0025	0.0025	0.0080	0.0078	0.0004	0.0024	0.0073	0	7.766e-05	0.0092	0.0023	0.0032	0.0085	0.0021	0.0021	0.0021	0.0021	0.0052	0.0019	0.0018	0.0036	0.0031	0.0003	0	0.0032	0.0072	0	9.411e-05	0.0272	0.0028	0.0057	0.0052	0.538	0.06847	T	0.565	0.08961	T	0.001	0.07471	B	0.001	0.04355	B	0.901394	0.07358	N	1.056550	0.735285	0.29789	N	1.175	0.29870	L	0.51	0.55439	T	-0.57	0.17210	N	0.063	0.03502	-1.0397	0.17404	T	0.047	0.19998	T	10	0.0023865998	0.00035	T	0.03136	0.53460	D	0.029	0.06676	.	.	0.48505662038	0.48136	0.18719301782112324	0.18637	0.783494048791	0.65400	0.42191067338	0.28099	T	0.011707	0.10405	T	-0.616636	0.00115	T	-0.652417	0.08785	T	0.00182093008429166	0.00019	T	0.474753	0.14169	T	0.050027553	0.08975	0.06288651	0.12375	0.050027553	0.08974	0.06288651	0.12375	-5.27	0.39645	T	.	.	0.079	0.07412	B	.	.	1.819671	0.23120	15.89	0.98549616485174141	0.42833	0.23289	0.22028	N	AEFDGBHCI	0.101186	0.20330	N	-1.00173789304803	0.08567	0.4022025	-0.948997271987702	0.10946	0.5546428	0.999999997774422	0.74766	0.455138	0.09556	0	0.405561	0.06353	1	0.503968	0.08637	0	0.56751	0.32155	0	.	.	5.16	-0.983	0.09738	0.156000	0.16200	1.588000	0.27514	0.597000	0.34315	0.029000	0.20367	0.999000	0.35428	0.979000	0.57723	0.3147:0.3622:0.0946:0.2285	1.585	0.02484	993	0.01300	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1223.98	37	chr20	59939439	.	C	T	1223.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.895e+00;DP=785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.75;ReadPosRankSum=0.730;SOR=0.616	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1222	20	0	1	0
chr20	60012548	60012548	C	G	exonic	CDH26	.	nonsynonymous SNV	CDH26:NM_001348204:exon4:c.C193G:p.L65V	.	.	427	1051	43	1	0	45	0.0209595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.998	D	0.915	D	.	.	1.000	N	.	.	0.32	T	-0.632	T	0.438	T	0.166	1.988	12.60	2.74	1.135	0.375	7.254	0.119	.	0.0018	0.00798722	0.0054	0.0002	0.0010	0	0	0.0021	0.0077	0.03	0.0049223	761	154602	rs142001408	0.0029	0.0029	0.0021	0.0036	0.0269	0.0028	0.0028	0.0259	0.0256	0.0002	0.0011	0.0020	5.039e-05	9.36e-05	0.0106	0.0014	0.0026	0.0269	0.0019	0.0019	0.0015	0.0023	0.0270	0.0017	0.0017	0.0232	0.0218	0.0003	0	0.0006	0.0017	0.0002	0	0.0136	0.0019	0.0028	0.0270	0.691	0.36709	T	0.237	0.92824	T	0.998	0.73220	D	0.88	0.65091	P	.	.	.	.	1	0.08975	N	.	.	.	0.32	0.75911	T	-0.29	0.32991	N	0.062	0.17278	-0.6323	0.63473	T	0.438	0.77708	T	8	0.0040251613	0.00078	T	.	.	.	0.119	0.33137	.	.	0.280181792013	0.27631	0.1316821982360792	0.13093	0.369338729039	0.38458	0.251678436995	0.03947	T	.	.	.	-0.45362	0.01075	T	-0.403421	0.32988	T	0.016949572632361	0.00446	T	0.468753	0.13831	T	0.054678217	0.10523	0.05006095	0.07778	0.054678217	0.10522	0.05006095	0.07778	-3.895	0.27327	T	.	.	0.079	0.24329	B	.;.;.	.;.;.	0.472862	0.08423	5.181	0.98745391950640393	0.45572	0.09523	0.15260	N	AEFDBCI	0.056347	0.10411	N	-0.307637999369078	0.28858	1.595234	-0.510783118436354	0.21860	1.184581	0.14143907576024	0.17280	0.549168	0.22868	0	0.547309	0.14657	0	0.590023	0.30420	0	0.564101	0.26826	0	.	.	3.68	2.74	0.31352	0.200000	0.17055	0.456000	0.18569	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.8791:0.0:0.1209	7.254	0.25339	983	0.02875	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	899.98	34	chr20	60012548	.	C	G	899.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.003e+00;DP=768;ExcessHet=0.0000;FS=4.831;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=1.09;SOR=0.303	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1263	20	0	1	0
chr20	62064676	62064676	T	C	exonic	TAF4	.	nonsynonymous SNV	TAF4:NM_003185:exon1:c.A1135G:p.M379V,	.	.	403	1106	13	0	0	13	0.0058427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.252	B	0.034	B	0.057	U	0.822	N	0.975	L	1.91	T	-1.060	T	0.039	T	0.373	-1.674	0.012	2.48	0.775	2.307	10.234	0.051	0.0318773868943	.	0.000599042	0.0015	0	0.0054	0	0	0.0010	0	0.0076	7.76e-05	12	154602	rs578126552	0.0005	0.0004	0.0004	0.0005	0.0041	0.0004	0.0004	0.0029	0.0027	4.509e-05	0.0002	0.0007	0	0	0.0041	0.0004	0.0007	0.0033	0.0005	0.0005	0.0006	0.0004	0.0025	0.0004	0.0003	0.0014	0.0011	0.0002	0	0.0003	0.0018	0	0	0	0.0006	0.0005	0.0025	0.01	0.56456	D	0.418	0.14200	T	0.252	0.31228	B	0.034	0.22546	B	0.056858	0.22527	U	0.418837	0.822435	0.28865	N	0.55	0.14455	N	1.91	0.23283	T	-0.1	0.08495	N	0.413	0.45331	-1.0602	0.11706	T	0.039	0.16935	T	10	0.0067034066	0.00152	T	0.031877	0.53851	D	0.051	0.14325	.	.	0.23798241625	0.23396	0.29912110779268963	0.29825	0.785438773156	0.65489	0.706029891968	0.68017	T	0.055793	0.30106	T	-0.131286	0.31289	T	-0.42636	0.30350	T	0.0346589345810708	0.02750	T	0.458954	0.13262	T	0.46546793	0.65011	0.26275417	0.52071	0.46546793	0.65012	0.26275417	0.52070	0.101	0.00315	T	.	.	0.220	0.45049	B	.	.	2.245323	0.28674	17.88	0.62895342292285583	0.07081	0.40112	0.26364	N	AEFDBHCI	0.133355	0.25298	N	-0.521524255279347	0.21384	1.134502	-0.482409194487195	0.22639	1.230604	0.999982815225888	0.51787	0.65757	0.49021	0	0.541556	0.11502	0	0.619478	0.44681	0	0.56751	0.32155	0	.	.	2.48	2.48	0.29194	1.963000	0.40076	1.165000	0.24581	0.482000	0.22156	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:0.0:1.0	10.234	0.42450	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	215.98	24	chr20	62064676	.	T	C	215.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=612;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.40;ReadPosRankSum=0.676;SOR=0.368	GT:AD:DP:GQ:PL	0/0:27,0:27:75:0,75,1125	20	0	1	0
chr20	62310083	62310083	-	GGAGGGGTAGGAAG	splicing	LAMA5	NM_005560:exon78:c.10735-2->CTTCCTACCCCTCC	.	.	.	.	416	1093	12	1	0	14	0.00636364	.	.	797997	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0	0.0004	0	0	0.0006	0.0012	0.0017	0.0001537	4	26028	rs762469320	0.0005	0.0005	0.0004	0.0005	0.0186	0.0005	0.0004	0.0157	0.0147	0.0001	0.0004	0.0018	0	0.0001	0.0186	0.0003	0.0008	0.0019	0.0004	0.0004	0.0003	0.0004	0.0025	0.0003	0.0003	0.0014	0.0011	2.408e-05	0	0.0003	0.0009	0	0	0.0102	0.0005	0.0014	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1047.94	46	chr20	62310083	.	T	TGGAGGGGTAGGAAG	1047.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=796;ExcessHet=0.0000;FS=5.051;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.12;ReadPosRankSum=1.02;SOR=1.371	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,986	20	0	1	0
chr20	62313454	62313454	G	A	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon64:c.C8665T:p.P2889S,	.	.	400	1104	18	0	0	18	0.00808625	.	.	717103	not_provided|LAMA5-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.85	T	0.072	B	0.043	B	0.296	U	1.000	N	0.27	N	2.41	T	-1.005	T	0.016	T	0.179	-1.606	0.014	-0.228	-0.011	-0.376	8.477	0.026	0.0094599243594	0.0037	0.00259585	0.0051	0.0016	0.0067	0	0.0009	0.0072	0.0052	0.0008	0.0036739	568	154602	rs138708242	0.0044	0.0044	0.0045	0.0044	0.0185	0.0043	0.0043	0.0156	0.0146	0.0013	0.0086	0.0028	0	0.0003	0.0185	0.0049	0.0051	0.0006	0.0042	0.0042	0.0041	0.0043	0.0094	0.0039	0.0038	0.0082	0.0077	0.0012	0.0186	0.0094	0.0035	0	0.0004	0.0204	0.0057	0.0090	0.0008	0.75	0.03587	T	0.785	0.04260	T	0.072	0.23997	B	0.043	0.24256	B	0.296417	0.03927	U	1.883920	1	0.08975	N	0.245	0.09735	N	2.41	0.15492	T	-1.11	0.28703	N	0.211	0.23506	-1.0049	0.28487	T	0.016	0.06664	T	10	0.0032201707	0.00055	T	0.00946	0.24786	T	0.026	0.05648	.	.	0.340432005269	0.33650	0.30327949198543697	0.30240	.	.	0.255870610476	0.04411	T	0.104271	0.41368	T	-0.63588	0.00088	T	-0.681609	0.06886	T	0.00242892271330381	0.00025	T	0.582642	0.21138	T	0.03070166	0.02780	0.034928128	0.02650	0.03070166	0.02779	0.034928128	0.02650	-6.135	0.47395	T	.	.	0.072	0.04316	B	.	.	0.632260	0.10007	6.760	0.52933846019157904	0.04842	0.15193	0.18790	N	AEFGBCI	0.169019	0.29582	N	-1.37759800172214	0.02849	0.1263878	-1.38366810103709	0.03425	0.1597595	0.899052213945012	0.26041	0.706548	0.73137	0	0.588066	0.40923	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.34	-0.228	0.12452	-0.504000	0.06456	0.043000	0.13895	-0.196000	0.09079	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4085:0.4355:0.156	8.477	0.32179	774	0.48577	Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	3793.66	37	chr20	62313454	.	G	A	3793.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.930;DP=931;ExcessHet=0.0000;FS=3.851;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=20.18;ReadPosRankSum=0.966;SOR=0.433	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1620	19	1	1	0
chr20	62318945	62318945	G	A	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon52:c.C6940T:p.R2314W,	.	.	412	1100	10	0	0	10	0.00452489	.	.	2128698	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.14	T	0.06	B	0.013	B	0.061	N	1.000	N	1.1	L	2.78	T	-1.005	T	0.013	T	0.182	0.602	7.243	0.458	-0.183	2.070	4.828	0.036	0.0371110188731	0.0003	0.000599042	0.0005	0	0.0007	0	0.0005	0.0007	0	0.0004	0.0003169	49	154602	rs201303962	0.0004	0.0004	0.0003	0.0004	0.0056	0.0003	0.0003	0.0041	0.0035	0.0001	0.0004	0	0	4.16e-05	0.0056	0.0004	0.0006	0.0003	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	2.407e-05	0	0.0001	0	0	0.0002	0.0034	0.0005	0.0005	0.0006	0.173	0.22573	T	0.052	0.47581	T	0.06	0.23119	B	0.013	0.16460	B	0.061045	0.22202	N	0.452057	0.999999	0.08975	N	1.08	0.27187	L	2.78	0.11298	T	-3.64	0.69835	D	0.29	0.32812	-1.0054	0.28337	T	0.013	0.05081	T	10	0.030061334	0.01132	T	0.037111	0.57411	D	0.036	0.09122	.	.	0.206203607746	0.20212	0.324488234620309	0.32361	.	.	0.470058590174	0.34688	T	0.113339	0.43031	T	-0.522781	0.00424	T	-0.606747	0.12250	T	0.0632181531677816	0.07666	T	0.682432	0.29103	T	0.10287255	0.24311	0.07624333	0.16869	0.10287255	0.24310	0.07624333	0.16868	-6.894	0.53255	T	.	.	0.102	0.17827	B	.	.	3.188377	0.43307	21.7	0.92787345666927878	0.22306	0.26152	0.22910	N	AEFDGBCI	0.208027	0.33415	N	-0.997228787310727	0.08663	0.407031	-1.04039814860417	0.08908	0.4403721	0.670159914126991	0.22366	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.25	0.458	0.15882	2.739000	0.47083	0.897000	0.22519	0.653000	0.53440	0.937000	0.32526	0.000000	0.08366	0.002000	0.04165	0.2242:0.0:0.6165:0.1593	4.828	0.12789	774	0.48577	Laminin alpha, domain I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3205.66	33	chr20	62318945	.	G	A	3205.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.99;DP=815;ExcessHet=0.0000;FS=0.732;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=22.90;ReadPosRankSum=-3.580e-01;SOR=0.562	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1266	19	1	1	0
chr20	62320750	62320750	C	T	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon49:c.G6637A:p.A2213T,	.	.	412	1108	2	0	0	2	0.000901713	.	.	742504	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.5	T	0.004	B	0.005	B	0.147	N	1.000	N	0.205	N	2.92	T	-0.970	T	0.005	T	0.006	0.088	4.475	-3.05	-1.069	-1.994	3.668	0.015	.	0.0080	0.00678914	0.0025	0.0264	0.0014	0	0	0.0003	0.0012	6.072e-05	0.0023286	360	154602	rs140781444	0.0009	0.0009	0.0010	0.0008	0.0257	0.0009	0.0009	0.0243	0.0237	0.0257	0.0018	0.0019	0	5.762e-05	0.0019	0.0002	0.0017	6.957e-05	0.0074	0.0074	0.0077	0.0070	0.0252	0.0070	0.0069	0.0239	0.0234	0.0252	0	0.0029	0.0014	0	0	0	0.0003	0.0047	0	0.405	0.10311	T	0.532	0.10034	T	0.004	0.12183	B	0.005	0.11217	B	0.146776	0.18102	N	0.565431	1	0.08975	N	0.85	0.21244	L	2.92	0.09915	T	-0.26	0.11185	N	0.067	0.03956	-0.9699	0.37220	T	0.005	0.01833	T	10	0.003423959	0.00060	T	.	.	.	0.015	0.02232	.	.	0.218628672733	0.21463	0.14020359042266417	0.13943	.	.	0.529904067516	0.43020	T	0.010963	0.09843	T	-0.772482	0.00012	T	-0.862121	0.00820	T	0.0110116440882696	0.00159	T	0.266473	0.04381	T	0.014592072	0.00100	0.035072092	0.02690	0.014592072	0.00100	0.035072092	0.02689	-4.698	0.33380	T	.	.	0.067	0.02428	B	.	.	-0.893332	0.00937	0.036	0.89539445306653931	0.18884	0.07474	0.13490	N	AEFDGBHCI	0.073646	0.14737	N	-1.67956767784339	0.00917	0.0396919	-1.70397439758758	0.01120	0.0503426	0.999869259735109	0.44398	0.706548	0.73137	0	0.626922	0.53725	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.23	-3.05	0.05069	-1.662000	0.02072	-3.608000	0.02661	-1.822000	0.00600	0.000000	0.06391	0.000000	0.08366	0.055000	0.15596	0.0873:0.4451:0.1366:0.3311	3.668	0.07798	774	0.48577	Laminin alpha, domain I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	915.98	77	chr20	62320750	.	C	T	915.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.700e-02;DP=859;ExcessHet=0.0000;FS=0.859;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=-6.580e-01;SOR=0.859	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr20	62324455	62324455	A	G	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon42:c.T5629C:p.S1877P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.997	D	0.952	D	0.000	U	1.000	D	2.14	M	0.04	T	-0.325	T	0.362	T	0.563	3.190	16.68	4.25	1.685	2.405	9.127	0.361	0.15942233487	.	.	.	.	.	.	.	.	.	.	.	.	.	rs916216649	1.37e-06	1.368e-06	0	2.755e-06	5.977e-05	2.3e-07	9e-08	9.9e-06	3.7e-06	5.977e-05	0	0	0	0	0	0	0	0	1.315e-05	1.314e-05	2.57e-05	0	4.83e-05	2.19e-06	8.2e-07	8e-06	2.99e-06	4.83e-05	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.002	0.79402	D	0.997	0.70673	D	0.952	0.69102	D	0.000030	0.55875	U	0.124562	0.999686	0.48270	D	1.955	0.52871	M	0.04	0.62051	T	-3.08	0.63323	D	0.618	0.63374	-0.3245	0.74295	T	0.362	0.72361	T	10	0.7736162	0.77280	D	0.159422	0.83963	D	0.361	0.68141	0.557	0.67547	0.656388501474	0.65352	0.5923614330281681	0.59166	.	.	0.46628895402	0.34173	T	0.141445	0.47650	T	0.0242786	0.54957	T	-0.202902	0.54371	T	0.938844680786133	0.60980	D	0.871113	0.57669	D	0.8704962	0.88900	0.84973776	0.91487	0.8704962	0.88902	0.84973776	0.91487	-11.4	0.81806	D	.	.	0.523	0.65607	A	.	.	3.830061	0.55357	23.6	0.99818654406857132	0.90150	0.95135	0.63566	D	AEFGBHCI	0.560850	0.56908	D	0.440435781189747	0.63664	4.604403	0.355795793642168	0.58859	4.059082	0.999880044818787	0.44867	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.25	4.25	0.49658	2.473000	0.44803	3.290000	0.37298	0.677000	0.82338	1.000000	0.71638	1.000000	0.68203	0.886000	0.42526	0.8368:0.0:0.0:0.1632	9.127	0.35982	779	0.47767	Laminin EGF domain|Laminin EGF domain|TNFR/NGFR cysteine-rich region|Laminin EGF domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	796.98	40	chr20	62324455	.	A	G	796.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.223;DP=844;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.39;ReadPosRankSum=-7.140e-01;SOR=0.683	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,100,1310	20	0	1	0
chr20	62327309	62327309	C	T	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon38:c.G5036A:p.R1679Q,	.	.	.	.	.	.	.	.	.	.	.	3043975	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.91	T	0.026	B	0.005	B	0.014	N	1.000	N	0.64	N	2.2	T	-0.975	T	0.022	T	0.188	-0.954	0.334	0.751	-0.083	0.088	3.821	0.082	0.0195466682287	7.7e-05	.	5.644e-05	0.0006	0	0	0	0	0	0	2.59e-05	4	154602	rs139647438	3.328e-05	3.489e-05	3.441e-05	3.213e-05	0.0005	2.577e-05	2.279e-05	0.0003	0.0002	0.0005	0	0	0	0	0	2.268e-05	5.038e-05	4.765e-05	0.0001	0.0001	0.0001	6.725e-05	0.0003	6.511e-05	5.322e-05	0.0001	0.0001	0.0003	0	0	0	0	0	0	7.35e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.026	0.19406	B	0.005	0.11217	B	0.013942	0.28682	N	0.398510	1	0.08975	N	0.51	0.13489	N	2.2	0.18570	T	-1.17	0.29933	N	0.129	0.12341	-0.9748	0.36170	T	0.022	0.09284	T	10	0.026984632	0.00853	T	0.019547	0.41941	T	0.082	0.23913	.	.	0.308613300994	0.30479	0.23887316252054328	0.23801	.	.	0.458932727575	0.33164	T	0.036612	0.24167	T	-0.516514	0.00461	T	-0.625679	0.10745	T	0.0204304717481136	0.00743	T	0.561944	0.19701	T	0.047277305	0.08055	0.03642525	0.03086	0.047277305	0.08055	0.03642525	0.03086	-4.635	0.32608	T	.	.	0.079	0.07318	B	.	.	1.788077	0.22733	15.74	0.26874591094888961	0.01308	0.05084	0.10881	N	AEFGBHCI	0.057673	0.10764	N	-1.0656003908749	0.07285	0.3379485	-1.03677149889953	0.08985	0.4445603	0.987232909229054	0.31216	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.17	0.751	0.17541	0.325000	0.19374	1.617000	0.27666	0.549000	0.26987	0.035000	0.20724	0.950000	0.28999	0.086000	0.17578	0.2662:0.4297:0.0:0.3041	3.821	0.08349	779	0.47767	Laminin IV	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1335.98	39	chr20	62327309	.	C	T	1335.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.38;DP=776;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.10;ReadPosRankSum=-1.690e-01;SOR=0.720	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,120,1800	20	0	1	0
chr20	62330940	62330940	C	T	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon30:c.G3655A:p.A1219T,	.	.	414	1106	2	0	0	2	0.000903342	.	.	742513	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.53	T	0.07	B	0.003	B	0.000	N	1.000	D	0.55	N	2.2	T	-1.013	T	0.013	T	0.068	1.007	9.114	1.4	0.420	0.665	6.773	0.042	.	0.0069	0.00698882	0.0041	0.0323	0.0026	0	0	0	0.0057	0	0.0013777	213	154602	rs200702801	0.0007	0.0007	0.0008	0.0006	0.0246	0.0007	0.0007	0.0232	0.0226	0.0246	0.0018	3.981e-05	0	2.088e-05	0.0011	3.795e-05	0.0014	6.271e-05	0.0069	0.0070	0.0072	0.0067	0.0240	0.0066	0.0065	0.0228	0.0223	0.0240	0	0.0028	0	0.0004	0	0	7.365e-05	0.0043	0	0.532	0.06980	T	0.317	0.19304	T	0.07	0.23866	B	0.003	0.08700	B	0.000115	0.50451	N	0.179242	0.92791	0.27133	N	0.14	0.08730	N	2.2	0.18570	T	-0.32	0.12283	N	0.047	0.01911	-1.0132	0.25912	T	0.013	0.04843	T	10	0.004822552	0.00102	T	.	.	.	0.042	0.11227	.	.	0.196089822672	0.19227	0.260428081419754	0.25955	.	.	0.472050100565	0.34962	T	0.01664	0.13717	T	-0.672173	0.00053	T	-0.718709	0.04859	T	0.0102891883505343	0.00140	T	0.753825	0.37593	T	0.035774954	0.04276	0.05216497	0.08539	0.035774954	0.04276	0.05216497	0.08539	-3.429	0.15449	T	.	.	0.071	0.03773	B	.	.	1.879065	0.23871	16.18	0.97369410935327549	0.33612	0.39076	0.26131	N	AEFDBHCIJ	0.194607	0.32168	N	-0.895023214175446	0.10960	0.526417	-0.866613837527703	0.12888	0.6656088	0.907376724995439	0.26257	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.87	1.4	0.21393	0.466000	0.21731	-3.081000	0.03078	0.594000	0.32500	0.056000	0.21631	0.000000	0.08366	0.632000	0.32210	0.5879:0.3134:0.0:0.0988	6.773	0.22793	784	0.47045	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1035.98	97	chr20	62330940	.	C	T	1035.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.647;DP=1478;ExcessHet=0.0000;FS=0.765;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=0.870;SOR=0.757	GT:AD:DP:GQ:PL	0/0:76,0:76:99:0,120,1800	20	0	1	0
chr20	62332705	62332705	G	A	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon27:c.C3295T:p.L1099F,	.	.	392	1103	26	1	0	28	0.0125336	.	.	742515	not_provided|LAMA5-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.01	D	0.116	B	0.083	B	0.005	U	1.000	D	1.565	L	2.02	T	-1.062	T	0.022	T	0.315	1.634	11.42	2.15	2.177	1.065	6.606	0.077	.	0.0047	0.00179712	0.0052	0.0011	0.0005	0	0.0028	0.0058	0.0051	0.0123	0.0046507	719	154602	rs138521932	0.0051	0.0051	0.0049	0.0053	0.0112	0.0050	0.0050	0.0106	0.0104	0.0007	0.0004	0.0023	0	0.0028	0.0023	0.0054	0.0033	0.0112	0.0036	0.0036	0.0036	0.0036	0.0091	0.0034	0.0033	0.0070	0.0062	0.0011	0	0.0007	0.0009	0	0.0030	0.0034	0.0060	0.0033	0.0091	0.005	0.63226	D	0.058	0.46182	T	0.116	0.26475	B	0.083	0.29179	B	0.005017	0.33181	U	0.252544	0.996623	0.43315	D	2.6	0.76081	M	2.02	0.21119	T	-1.51	0.36787	N	0.428	0.46742	-1.0619	0.11288	T	0.022	0.09375	T	10	0.0060425103	0.00136	T	.	.	.	0.077	0.22490	.	.	0.512317527237	0.50874	0.48978303542408574	0.48898	.	.	0.536268591881	0.43919	T	0.038298	0.24789	T	-0.464736	0.00918	T	-0.430943	0.29827	T	0.0241763124399717	0.01167	T	0.674733	0.28305	T	0.1077627	0.25482	0.08947208	0.20926	0.1077627	0.25482	0.08947208	0.20925	-10.123	0.74645	D	.	.	0.162	0.35726	B	.	.	3.484875	0.48678	22.7	0.99417254343608985	0.63597	0.85202	0.44314	D	AEFBCI	0.268090	0.38466	N	-0.245247463589705	0.31293	1.75325	-0.180918109948441	0.32238	1.832165	0.899942966586355	0.26063	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.23	2.15	0.26590	1.274000	0.32736	5.377000	0.48445	0.592000	0.32167	1.000000	0.71638	1.000000	0.68203	0.634000	0.32262	0.1662:0.1566:0.6773:0.0	6.606	0.21918	784	0.47045	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	838.98	45	chr20	62332705	.	G	A	838.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.190e-01;DP=922;ExcessHet=0.0000;FS=0.853;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.12;ReadPosRankSum=-2.120e-01;SOR=0.529	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	20	0	1	0
chr20	62412675	62412675	C	G	exonic	RBBP8NL	.	nonsynonymous SNV	RBBP8NL:NM_080833:exon13:c.G1825C:p.G609R,	.	.	414	1098	10	0	0	10	0.00453309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.001	B	0.002	B	0.896	N	1.000	N	0.49	N	2.21	T	-0.944	T	0.018	T	0.117	-1.762	0.010	-6.28	-1.713	-0.382	7.425	0.009	0.00370893324027	.	0.000599042	0.0005	0.0002	0	0	0	7.646e-05	0.0011	0.0034	0.0004334	67	154602	rs541334076	0.0002	0.0002	0.0002	0.0004	0.0034	0.0002	0.0002	0.0030	0.0029	0	0	3.827e-05	0	0	0.0030	4.227e-05	0.0001	0.0034	0.0002	0.0002	6.422e-05	0.0003	0.0031	0.0001	9.231e-05	0.0019	0.0015	7.215e-05	0	0	0	0	0	0	7.35e-05	0.0005	0.0031	1.0	0.00964	T	0.664	0.06427	T	0.001	0.07471	B	0.002	0.06944	B	0.895653	0.07323	N	1.073060	1	0.08975	N	0.6	0.15550	N	2.21	0.18414	T	-0.31	0.12099	N	0.187	0.20395	-0.9437	0.42025	T	0.018	0.07659	T	10	0.0039628446	0.00076	T	0.003709	0.08589	T	0.009	0.00846	0.143	0.04650	0.0551355673512	0.04727	0.020127441008813102	0.01965	0.0664678907798	0.07414	0.228260159492	0.01841	T	0.002254	0.01652	T	-0.685035	0.00045	T	-0.76046	0.03096	T	0.00579405762255192	0.00063	T	0.322868	0.06576	T	0.03517458	0.04089	0.059728425	0.11259	0.03517458	0.04089	0.059728425	0.11258	-4.582	0.31945	T	.	.	0.076	0.05935	B	.	.	-0.550220	0.01713	0.126	0.34319652011045199	0.02093	0.04401	0.09986	N	AEFDGBHCI	0.039691	0.05799	N	-1.95224618864562	0.00267	0.01147543	-2.03527943018272	0.00258	0.01136416	0.999999999996455	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.14	-6.28	0.01844	-1.652000	0.02090	-1.118000	0.06277	-2.422000	0.00288	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1802:0.1723:0.6474	7.425	0.26269	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	952.98	43	chr20	62412675	.	C	G	952.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.510e-01;DP=797;ExcessHet=0.0000;FS=5.463;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.83;ReadPosRankSum=1.05;SOR=0.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485	20	0	1	0
chr20	62413436	62413436	G	A	exonic	RBBP8NL	.	nonsynonymous SNV	RBBP8NL:NM_080833:exon11:c.C1640T:p.P547L,	.	.	434	1075	13	0	0	13	0.00601017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.014	B	0.007	B	0.714	U	1.000	N	1.32	L	2.07	T	-1.058	T	0.013	T	0.198	1.611	11.34	2.49	1.714	0.270	10.625	0.050	.	0.0002	0.0179712	0.0159	0.0002	0.0695	0.0658	0	0.0003	0.0023	0.0442	0.0092107	1424	154602	rs140552135	0.0037	0.0043	0.0034	0.0041	0.0624	0.0037	0.0036	0.0602	0.0593	0.0004	0.0369	0	0.0624	0.0001	0.0027	0.0002	0.0039	0.0255	0.0059	0.0060	0.0044	0.0076	0.0475	0.0056	0.0055	0.0427	0.0408	0.0004	0	0.0328	0	0.0475	0	0	0.0002	0.0052	0.0234	0.108	0.29420	T	0.006	0.70582	D	0.014	0.16867	B	0.007	0.12992	B	0.713736	0.06273	U	1.199320	1	0.08975	N	0	0.06538	N	2.07	0.20387	T	-0.56	0.17003	N	0.302	0.34120	-1.0575	0.12388	T	0.013	0.05225	T	10	0.002594471	0.00040	T	.	.	.	0.050	0.13987	.	.	.	.	0.10819837053959293	0.10748	0.0636878223407	0.07091	0.419292122126	0.27740	T	0.004053	0.03463	T	-0.642595	0.00080	T	-0.638293	0.09794	T	0.0165751981638537	0.00419	T	0.444256	0.12390	T	0.030446101	0.02709	0.043271556	0.05345	0.030446101	0.02709	0.043271556	0.05345	-6.155	0.47558	T	.	.	0.077	0.06433	B	.	.	1.295887	0.16970	12.88	0.89728895913262696	0.19049	0.03485	0.08649	N	AEFDBI	0.027950	0.02374	N	-0.849290633556143	0.12067	0.5859855	-0.913059744018854	0.11786	0.6025299	0.999991086371265	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	2.49	2.49	0.29274	0.439000	0.21293	0.604000	0.19959	0.253000	0.18341	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.0:1.0:0.0	10.625	0.44690	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1001.98	34	chr20	62413436	.	G	A	1001.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.355;DP=760;ExcessHet=0.0000;FS=1.991;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.31;ReadPosRankSum=0.322;SOR=0.955	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1231	20	0	1	0
chr20	62416867	62416867	C	T	exonic	RBBP8NL	.	nonsynonymous SNV	RBBP8NL:NM_080833:exon5:c.G206A:p.R69Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.000	D	0.997	D	2.515	M	0.51	T	-0.205	T	0.366	T	0.905	5.572	35	4.46	2.031	5.419	16.725	0.468	0.161744477343	.	.	8.097e-05	0	0	0	0	0.0002	0	0	1.94e-05	3	154602	rs759817680	1.777e-05	2.257e-05	2.248e-05	1.295e-05	5.424e-05	1.22e-05	1.031e-05	8.99e-06	7.07e-06	0	2.654e-05	0.0001	5.424e-05	0	0	1.475e-05	1.715e-05	2.49e-05	1.973e-05	1.97e-05	2.572e-05	1.346e-05	2.942e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	2.416e-05	0	0	0	0	0	0	2.942e-05	0	0	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000004	0.62929	D	0.055994	0.997164	0.43677	D	2.865	0.83145	M	0.51	0.55439	T	-3.96	0.73579	D	0.825	0.82057	-0.2051	0.77538	T	0.366	0.72620	T	10	0.85362244	0.84550	D	0.161744	0.84147	D	0.468	0.76289	0.68	0.81788	0.771215900726	0.76911	0.2456342584558214	0.24477	0.390486967519	0.40258	0.596028447151	0.52344	T	0.291854	0.66459	T	0.0978196	0.64057	D	0.167163	0.81239	D	0.729387127584773	0.42178	D	0.988001	0.95955	D	0.7240099	0.79385	0.66375524	0.80289	0.7240099	0.79387	0.66375524	0.80290	-11.156	0.80506	D	.	.	0.505	0.64830	A	.	.	5.423347	0.90727	31	0.99945516975997983	0.99886	0.91093	0.52846	D	AEFDBI	0.726810	0.67535	D	0.694875363622727	0.79298	7.047962	0.622845717947786	0.76601	6.52147	0.999999996191963	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.46	4.46	0.53567	5.514000	0.66760	7.414000	0.58665	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	16.725	0.85279	814	0.42100	DNA endonuclease Ctp1, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	776.98	33	chr20	62416867	.	C	T	776.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.79;DP=762;ExcessHet=0.0000;FS=0.970;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=1.29;SOR=0.527	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1267	20	0	1	0
chr20	62657241	62657241	G	A	exonic	SLCO4A1	.	nonsynonymous SNV	SLCO4A1:NM_016354:exon2:c.G787A:p.V263I,	.	.	415	1094	13	0	0	13	0.00590641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.022	B	0.031	B	0.000	N	0.998	D	0.815	L	1.06	T	-1.095	T	0.047	T	0.089	1.636	11.43	1.91	0.094	3.099	8.813	0.046	.	0.0046	0.00838658	0.0146	0.0014	0	0.0021	0	0.0138	0.0172	0.0225	0.0029495	456	154602	rs140267842	0.0090	0.0087	0.0089	0.0091	0.0142	0.0089	0.0088	0.0133	0.0130	0.0016	0.0055	0.0122	0.0005	0.0006	0.0142	0.0094	0.0110	0.0140	0.0061	0.0061	0.0063	0.0060	0.0182	0.0058	0.0057	0.0151	0.0140	0.0018	0.0011	0.0070	0.0124	0.0010	0.0002	0.0136	0.0088	0.0052	0.0182	0.122	0.27663	T	0.14	0.33554	T	0.022	0.18677	B	0.031	0.21939	B	0.000079	0.52346	N	0.085102	0.998009	0.44406	D	0.83	0.20963	L	1.06	0.39781	T	-0.21	0.10308	N	0.11	0.09631	-1.0945	0.04824	T	0.047	0.20156	T	10	0.012305081	0.00265	T	.	.	.	0.046	0.12618	.	.	0.388010793773	0.38412	0.36218631752430513	0.36132	0.43156961737	0.43355	0.325636208057	0.14274	T	0.021444	0.16695	T	-0.572852	0.00213	T	-0.583315	0.14249	T	0.0158779078162979	0.00373	T	0.781022	0.41604	T	0.031249743	0.02931	0.04016889	0.04279	0.031249743	0.02930	0.04016889	0.04279	-5.181	0.38748	T	.	.	0.077	0.06803	B	.;.	.;.	2.132742	0.27151	17.37	0.98923019650474953	0.48602	0.73578	0.35990	D	AEFGBCI	0.169143	0.29596	N	-0.523243722078334	0.21330	1.131181	-0.428032031540844	0.24178	1.322592	0.999974712367101	0.50053	0.695654	0.57023	0	0.577304	0.33150	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.32	1.91	0.24841	3.180000	0.50595	3.692000	0.39499	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.886000	0.42526	0.1944:0.0:0.8056:0.0	8.813	0.34137	609	0.67094	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	466.98	33	chr20	62657241	.	G	A	466.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.370e-01;DP=722;ExcessHet=0.0000;FS=1.237;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=0.088;SOR=0.495	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr20	62754880	62754880	G	A	exonic	NTSR1	.	nonsynonymous SNV	NTSR1:NM_002531:exon2:c.G910A:p.V304I,	.	.	406	1074	42	0	0	42	0.0191781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.084	B	0.024	B	0.008	N	1.000	D	1.335	L	1.19	T	-1.064	T	0.032	T	0.452	2.222	13.39	4.01	1.940	8.163	16.474	0.193	.	0.0062	0.0225639	0.0144	0.0082	0.0088	0.0506	0.0007	0.0101	0.0099	0.0238	0.0103815	1605	154602	rs2273075	0.0081	0.0080	0.0077	0.0085	0.0368	0.0079	0.0079	0.0353	0.0346	0.0072	0.0073	0.0064	0.0368	0.0014	0.0200	0.0061	0.0102	0.0227	0.0090	0.0090	0.0089	0.0091	0.0352	0.0086	0.0084	0.0310	0.0294	0.0072	0	0.0121	0.0049	0.0352	0.0011	0.0204	0.0073	0.0099	0.0300	0.038	0.42783	D	0.11	0.37310	T	0.084	0.24799	B	0.024	0.20255	B	0.007801	0.31194	N	0.254669	0.999893	0.50595	D	1.265	0.31966	L	1.19	0.37578	T	-0.3	0.11913	N	0.182	0.19728	-1.0637	0.10855	T	0.032	0.13898	T	10	0.008374959	0.00190	T	.	.	.	0.193	0.47281	.	.	.	.	0.509259065189681	0.50847	0.376781133715	0.39117	0.539178967476	0.44329	T	0.075811	0.35267	T	-0.421426	0.01675	T	-0.349558	0.39255	T	0.028397520659595	0.01745	T	0.805019	0.45286	T	0.20894349	0.43145	0.2529774	0.50937	0.20894349	0.43145	0.2529774	0.50936	-4.525	0.31214	T	.	.	0.211	0.43949	B	.	.	3.154920	0.42722	21.6	0.99284567613437347	0.58043	0.93323	0.57910	D	AEFDGBCI	0.811549	0.73450	D	-0.283147476488811	0.29799	1.655778	-0.250873902885711	0.29741	1.668761	0.999999972392244	0.74766	0.623552	0.39893	0	0.59043	0.45803	0	0.602189	0.34648	0	0.579976	0.35079	0	.	.	4.01	4.01	0.45821	6.485000	0.73532	11.428000	0.92732	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.037000	0.13953	0.0:0.0:1.0:0.0	16.474	0.83969	856	0.34373	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	353.98	47	chr20	62754880	.	G	A	353.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.425e+00;DP=791;ExcessHet=0.0000;FS=4.154;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.87;ReadPosRankSum=-1.265e+00;SOR=0.195	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	20	0	1	0
chr20	62754887	62754887	G	A	splicing	NTSR1	NM_002531:exon2:c.916+1G>A	.	.	.	.	406	1115	1	0	0	1	0.000448229	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.057	12.83	4.01	1.940	8.163	16.474	.	.	.	.	5.14e-05	0.0001	0.0005	0	0	0	0	0	3.23e-05	5	154602	rs764083183	1.18e-05	1.505e-05	1.38e-05	9.775e-06	0.0005	7.19e-06	5.88e-06	0.0001	7.578e-05	5.998e-05	0.0002	0	0	0	0.0005	1.808e-06	1.669e-05	1.17e-05	3.945e-05	3.94e-05	2.571e-05	5.386e-05	0.0001	1.716e-05	1.13e-05	6.292e-05	4.305e-05	0.0001	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0607394	0.42791	T	-0.0348814	0.68043	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.617277	0.92576	32	0.98405169991674291	0.41116	0.93328	0.57923	D	AEFDGBCI	.	.	.	0.873776996253186	0.90418	10.39465	0.637810802297052	0.77708	6.731207	0.999999972392244	0.74766	0.080785	0.02172	0	0.059962	0.00310	0	0.060301	0.00762	0	0.10565	0.03146	0	0.868403	0.53573	4.01	4.01	0.45821	8.250000	0.89774	11.428000	0.92732	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.044000	0.14658	0.0:0.0:1.0:0.0	16.474	0.83969	856	0.34373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	520.98	51	chr20	62754887	.	G	A	520.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.60;DP=777;ExcessHet=0.0000;FS=1.394;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.22;ReadPosRankSum=0.483;SOR=1.071	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	20	0	1	0
chr20	62812406	62812406	G	A	exonic	OGFR	.	nonsynonymous SNV	OGFR:NM_007346:exon7:c.G791A:p.R264Q,	.	.	.	.	.	.	.	.	.	.	.	2440268	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.922	D	0.012	N	0.984	N	2.075	M	1.77	T	-0.932	T	0.194	T	0.403	3.092	16.33	0.763	0.283	1.440	4.769	0.155	0.027955204407	.	.	6.738e-05	0	0	0	0	0.0001	0	0	1.29e-05	2	154602	rs754513274	9.432e-05	9.782e-05	9.144e-05	9.726e-05	0.0002	8.128e-05	7.59e-05	0.0001	9.539e-05	0	2.461e-05	0	0	2.016e-05	0.0002	0.0001	3.393e-05	0	1.972e-05	1.97e-05	2.57e-05	1.345e-05	2.413e-05	5.24e-06	2.45e-06	.	.	2.413e-05	0	0	0	0	9.411e-05	0	1.47e-05	0	0	0.006	0.61437	D	0.039	0.55759	D	0.996	0.68779	D	0.878	0.62312	P	0.012235	0.29245	N	0.340626	0.984149	0.24825	N	2.485	0.72352	M	1.77	0.34452	T	-2.8	0.62343	D	0.219	0.24510	-0.9316	0.43903	T	0.194	0.54811	T	10	0.17312375	0.32122	T	0.027955	0.50703	D	0.155	0.40530	.	.	0.347879110917	0.34393	0.27292444139106947	0.27205	1.01917520793	0.75045	0.606942772865	0.53885	T	0.108861	0.42226	T	-0.0983782	0.36693	T	-0.37909	0.35829	T	0.619107782840729	0.37169	D	0.929807	0.74231	D	0.099507526	0.23483	0.111094065	0.26794	0.099507526	0.23483	0.111094065	0.26794	-8.834	0.66622	D	.	.	0.146	0.39305	B	.;.;.	.;.;.	3.188946	0.43316	21.7	0.99907215215981093	0.97726	0.41478	0.26666	N	AEFBCI	0.072725	0.14524	N	0.0427611452403169	0.43811	2.666739	-0.135341383269534	0.33977	1.949374	0.83271174749085	0.24722	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.57	0.763	0.17606	1.470000	0.34963	1.550000	0.27287	0.676000	0.76740	0.776000	0.29426	0.888000	0.27792	0.135000	0.19760	0.1801:0.4211:0.3987:0.0	4.769	0.12517	894	0.26265	Opioid growth factor receptor (OGFr) conserved domain;Opioid growth factor receptor (OGFr) conserved domain;Opioid growth factor receptor (OGFr) conserved domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1778.98	33	chr20	62812406	.	G	A	1778.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.19;DP=1147;ExcessHet=0.0000;FS=6.401;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=1.34;SOR=0.734	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1389	20	0	1	0
chr20	62813155	62813175	ACCCCTGGGAGCCCATCGGAG	-	exonic	OGFR	.	nonframeshift deletion	OGFR:NM_007346:exon7:c.1540_1560del:p.S517_G523del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1267.94	33	chr20	62813154	.	TACCCCTGGGAGCCCATCGGAG	T	1267.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.619e+00;DP=842;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.52;MQRankSum=1.38;QD=23.92;ReadPosRankSum=-4.040e-01;SOR=0.660	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1389	20	0	1	0
chr20	62813162	62813222	GGAGCCCATCGGAGACCCCAGGCCCCAGCCCAGCAGGACCTGCAGGGGACGAGCCAGCCGA	0	exonic	OGFR	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	680.03	55	chr20	62813162	.	GGAGCCCATCGGAGACCCCAGGCCCCAGCCCAGCAGGACCTGCAGGGGACGAGCCAGCCGA	G,*	680.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-1.204e+00;DP=889;ExcessHet=0.1072;FS=2.557;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=6.30;ReadPosRankSum=-1.933e+00;SOR=0.470	GT:AD:DP:GQ:PL	0/0:41,0,0:41:99:0,108,1389,108,1389,1389	19	0	1	0
chr20	62813171	62813171	C	0	exonic	OGFR	.	.	.	.	.	408	1041	47	1	25	74	0.0229939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	3398.84	55	chr20	62813171	.	C	T,*	3398.84	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=1.06;DP=927;ExcessHet=0.0409;FS=0.499;InbreedingCoeff=0.3189;MLEAC=3,2;MLEAF=0.071,0.048;MQ=60.00;MQRankSum=0.00;QD=13.17;ReadPosRankSum=1.05;SOR=0.630	GT:AD:DP:GQ:PL	0/0:41,0,0:41:99:0,108,1389,108,1389,1389	17	1	1	0
chr20	62813277	62813277	A	0	exonic	OGFR	.	.	.	.	.	523	886	20	13	80	126	0.0253025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	2213.86	12	chr20	62813277	.	A	*,G	2213.86	.	AC=3,6;AF=0.079,0.158;AN=38;BaseQRankSum=-1.555e+00;DP=527;ExcessHet=0.1022;FS=5.579;InbreedingCoeff=0.2459;MLEAC=2,7;MLEAF=0.053,0.184;MQ=54.26;MQRankSum=0.052;QD=19.25;ReadPosRankSum=-3.440e-01;SOR=1.371	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:13,0,0:13:39:.:.:0,39,464,39,464,464	12	1	1	2
chr20	62813313	62813313	G	0	exonic	OGFR	.	.	.	.	.	901	501	16	13	91	133	0.0402299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4091	2484.09	12	chr20	62813313	.	G	A,*	2484.09	.	AC=6,3;AF=0.273,0.136;AN=22;BaseQRankSum=1.18;DP=455;ExcessHet=0.3267;FS=2.908;InbreedingCoeff=0.1128;MLEAC=9,3;MLEAF=0.409,0.136;MQ=53.32;MQRankSum=-1.420e-01;QD=23.00;ReadPosRankSum=0.217;SOR=1.040	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:12,0,0:12:36:.:.:0,36,335,36,335,335	4	1	4	10
chr20	62813432	62813434	CGG	-	exonic	OGFR	.	nonframeshift deletion	OGFR:NM_007346:exon7:c.1817_1819del:p.A607del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0041	0	0	0	0	0	0	8.41e-05	13	154602	rs768791809	0.0019	0.0035	0.0019	0.0020	0.0259	0.0019	0.0018	0.0245	0.0240	0.0079	0.0077	0.0021	0.0259	0.0028	0.0031	0.0005	0.0024	0.0049	0.0021	0.0023	0.0022	0.0020	0.0078	0.0019	0.0018	0.0069	0.0065	0.0078	0	0.0012	0.0003	0.0024	0.0011	0	0.0002	0.0019	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	759.07	23	chr20	62813431	.	CCGG	C	759.07	.	AC=2;AF=0.048;AN=42;DP=479;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.9836;MLEAC=2;MLEAF=0.048;MQ=57.51;QD=28.11;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:27,0:27:81:.:.:0,81,771	20	1	0	0
chr20	62813433	62813433	G	0	exonic	OGFR	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	1104.12	25	chr20	62813433	.	G	A,*	1104.12	.	AC=5,2;AF=0.132,0.053;AN=38;BaseQRankSum=1.31;DP=480;ExcessHet=0.0090;FS=0.835;InbreedingCoeff=0.4177;MLEAC=5,2;MLEAF=0.132,0.053;MQ=52.89;MQRankSum=0.203;QD=11.27;ReadPosRankSum=1.31;SOR=0.830	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:27,0,0:27:81:.:.:0,81,771,81,771,771	14	1	3	2
chr20	62813437	62813493	GGACCTGCAGGGGACGAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCCCCCGCCCG	-	exonic	OGFR	.	nonframeshift deletion	OGFR:NM_007346:exon7:c.1822_1878del:p.G608_P626del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0045	0	0	0	0	0	0	.	.	.	.	0.0004	0.0018	0.0004	0.0004	0.0055	0.0004	0.0004	0.0049	0.0046	0.0055	0.0019	0.0002	0.0043	0.0004	0.0002	6.168e-05	0.0007	0.0004	0.0022	0.0019	0.0023	0.0020	0.0082	0.0019	0.0019	0.0073	0.0069	0.0082	0	0.0014	0	0.0028	0.0004	0	0.0002	0.0026	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	706.94	26	chr20	62813436	.	AGGACCTGCAGGGGACGAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCCCCCGCCCG	A	706.94	.	AC=1;AF=0.024;AN=42;DP=508;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0247;MLEAC=1;MLEAF=0.024;MQ=58.27;QD=18.60;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:27,0:27:81:.:.:0,81,771	20	0	1	0
chr20	62813512	62813571	GAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCCCCAGCCCGGCAGGACCTACAAGGGAT	-	exonic	OGFR	.	nonframeshift deletion	OGFR:NM_007346:exon7:c.1897_1956del:p.E636_A655del,	.	.	434	1080	7	0	1	8	0.00323027	.	.	2824592	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0042	0.0006	0.0023	0	0	0.0049	0.0022	0.0071	0.0001153	3	26028	.	0.0006	0.0005	0.0006	0.0006	0.0027	0.0006	0.0006	0.0016	0.0012	0.0003	0.0004	0.0052	2.729e-05	8.394e-05	0.0027	0.0005	0.0008	0.0011	0.0017	0.0017	0.0018	0.0016	0.0034	0.0015	0.0015	0.0020	0.0019	0.0005	0	0.0007	0.0117	0.0002	0.0001	0.0042	0.0023	0.0022	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	737.94	38	chr20	62813511	.	CGAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCCCCAGCCCGGCAGGACCTACAAGGGAT	C	737.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.231e+00;DP=824;ExcessHet=0.0000;FS=7.405;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.16;MQRankSum=-4.040e-01;QD=12.51;ReadPosRankSum=1.41;SOR=1.467	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1054	20	0	1	0
chr20	62821797	62821797	T	C	exonic	COL9A3	.	nonsynonymous SNV	COL9A3:NM_001853:exon8:c.T410C:p.L137P,	Epiphyseal dysplasia, multiple, 3, with or without myopathy, Autosomal dominant	.	7	1498	16	1	0	18	0.00597213	.	.	257389	not_specified|Connective_tissue_disorder|not_provided	MedGen:CN169374|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.31	T	0.005	B	0.007	B	0.007	U	1.000	D	-1.305	N	-2.78	D	-0.410	T	0.365	T	0.372	1.878	12.24	4.79	1.783	1.870	7.156	0.294	0.0673241444334	0.0027	0.00339457	0.0046	0.0049	0.0029	0	0	0.0054	0.0015	0.0070	0.0036869	570	154602	rs147947060	0.0040	0.0042	0.0039	0.0040	0.0057	0.0039	0.0038	0.0052	0.0051	0.0030	0.0021	0.0170	0	0.0007	0.0055	0.0039	0.0041	0.0057	0.0039	0.0039	0.0041	0.0037	0.0052	0.0036	0.0035	0.0042	0.0040	0.0036	0	0.0015	0.0210	0.0002	9.414e-05	0.0068	0.0046	0.0028	0.0052	0.128	0.26965	T	0.405	0.23570	T	0.005	0.12996	B	0.007	0.12992	B	0.006952	0.31695	U	0.302681	0.999795	0.49177	D	-1.165	0.00881	N	-3.57	0.94904	D	-0.1	0.08495	N	0.379	0.42050	-0.4097	0.71720	T	0.365	0.72560	T	10	0.009360015	0.00211	T	0.067324	0.70132	D	0.294	0.61388	.	.	0.74863057164	0.74636	0.5024657450337587	0.50168	0.113901460295	0.12851	0.680965423584	0.64407	T	3.69E-4	0.00107	T	-0.223375	0.17535	T	-0.0919972	0.64011	T	0.00856606393201849	0.00104	T	0.683432	0.33655	T	0.1268334	0.29697	0.2035398	0.44434	0.180683	0.39201	0.16422048	0.38053	-1.168	0.01206	T	.	.	0.099	0.43801	B	.;.;.	.;.;.	2.953959	0.39315	20.9	0.95034833747809411	0.26033	0.58758	0.30729	D	AEFDBCI	0.250613	0.37063	N	-0.483242777438565	0.22629	1.210	-0.222696171986814	0.30723	1.732407	0.99908956704427	0.38397	0.695654	0.57023	0	0.578056	0.33634	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.79	4.79	0.60909	1.790000	0.38366	4.042000	0.41433	0.603000	0.45986	0.998000	0.41325	1.000000	0.68203	0.793000	0.37436	0.0:0.1018:0.0:0.8982	7.156	0.24815	900	0.24599	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	808.11	36	chr20	62821797	.	T	C	808.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.71;DP=759;ExcessHet=0.1072;FS=1.842;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.23;ReadPosRankSum=0.428;SOR=0.923	GT:AD:DP:GQ:PL	0/1:26,21:47:99:457,0,603	19	0	2	0
chr20	62836323	62836323	C	T	exonic	COL9A3	.	nonsynonymous SNV	COL9A3:NM_001853:exon28:c.C1538T:p.P513L,	Epiphyseal dysplasia, multiple, 3, with or without myopathy, Autosomal dominant	YES	0	1521	1	0	0	1	0.000328623	.	.	492649	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.992	D	0.641	P	0.000	D	1.000	D	2.445	M	-4.09	D	0.936	D	0.887	D	0.463	2.574	14.57	4.63	2.117	1.226	13.354	0.500	0.492009891896	.	0.000599042	7.55e-05	0.0001	8.703e-05	0	0	7.627e-05	0	0.0001	0.0001035	16	154602	rs202094480	6.364e-05	6.498e-05	6.128e-05	6.602e-05	0.0010	5.296e-05	4.912e-05	0.0005	0.0003	0.0003	0.0001	3.827e-05	0.0002	0	0.0010	3.507e-05	0.0003	8.115e-05	6.562e-05	6.561e-05	7.706e-05	5.367e-05	0.0006	3.512e-05	2.613e-05	0.0002	8.375e-05	4.808e-05	0	0	0	0.0006	0	0	7.349e-05	0	0	0.15	0.24661	T	0.144	0.33109	T	0.992	0.64738	D	0.641	0.52117	P	0.000016	0.62929	D	0.115400	0.999981	0.54805	D	2.82	0.82106	M	-4.09	0.96627	D	-2.06	0.47175	N	0.531	0.55972	0.936	0.96183	D	0.887	0.96251	D	10	0.42572823	0.57160	T	0.49201	0.95014	D	0.500	0.78350	.	.	0.903751906446	0.90279	0.4917483548364823	0.49095	0.417224693402	0.42347	0.586887657642	0.51056	T	0.375991	0.73948	T	0.0430683	0.57447	T	0.00623502	0.70739	D	0.198393984386786	0.20327	T	0.89721	0.64041	D	0.0885993	0.20673	0.08384448	0.19245	0.0885993	0.20673	0.08384448	0.19245	-8.827	0.66576	D	.	.	0.072	0.04396	B	.;.	.;.	4.712404	0.75714	26.4	0.99801397416488058	0.88639	0.30625	0.24130	N	AEFDGBIJ	0.319891	0.42316	N	0.0259768132827832	0.43038	2.60472	-0.149292357982889	0.33437	1.912565	0.999999999648316	0.74766	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.604944	0.38103	0	.	.	4.63	4.63	0.57175	1.379000	0.33946	7.476000	0.59206	0.599000	0.40250	0.165000	0.23867	1.000000	0.68203	0.036000	0.13842	0.1583:0.8417:0.0:0.0	13.354	0.60063	828	0.39726	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1119.98	34	chr20	62836323	.	C	T	1119.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.04;DP=871;ExcessHet=0.0000;FS=1.834;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=0.142;SOR=0.954	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1219	20	0	1	0
chr20	62837209	62837209	G	A	exonic	COL9A3	.	nonsynonymous SNV	COL9A3:NM_001853:exon30:c.G1730A:p.R577Q,	Epiphyseal dysplasia, multiple, 3, with or without myopathy, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	1611954	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.59	T	1.0	D	0.996	D	0.000	D	1.000	D	1.095	L	-3.37	D	0.540	D	0.814	D	0.597	4.869	27.9	4.8	2.211	4.304	17.843	0.590	0.404568916369	0.0002	0.000199681	0.0004	0	0	0.0001	0.0002	0.0006	0	0.0003	0.0003752	58	154602	rs140377811	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0003	0.0003	8.966e-05	8.95e-05	0	0	0.0002	0.0002	0.0003	0.0003	0.0001	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	9.237e-05	0.0001	0.0001	0.0001	0	0	0	0	9.422e-05	0	0.0002	0	0.0004	0.155	0.24183	T	0.024	0.56640	D	1.0	0.90584	D	0.978	0.74104	D	0.000012	0.62929	D	0.068437	0.999959	0.52396	D	0.52	0.13579	N	-3.37	0.94114	D	-1.5	0.36586	N	0.592	0.61172	0.540	0.91103	D	0.814	0.93715	D	10	0.59104776	0.66382	D	0.404569	0.93469	D	0.590	0.83636	.	.	0.893114649504	0.89205	0.4210345473115319	0.42019	0.447049120517	0.44571	0.604531884193	0.53544	T	0.252848	0.62329	T	-0.0858395	0.38762	T	0.00536348	0.70684	D	0.571231544017792	0.35281	D	0.923008	0.71997	D	0.17361823	0.38120	0.14477451	0.34359	0.17361823	0.38119	0.14477451	0.34358	-2.369	0.04946	T	.	.	0.091	0.13174	B	.;.	.;.	5.175755	0.86765	29.0	0.99951800015823744	0.99951	0.94081	0.60055	D	AEFBI	0.812919	0.73553	D	0.415527263851327	0.62275	4.440787	0.427700258513748	0.63295	4.560655	0.999999994370787	0.74766	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.8	4.8	0.61157	5.271000	0.65364	11.531000	0.93088	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.309000	0.24713	0.0:0.0:1.0:0.0	17.843	0.88632	829	0.39537	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1506.98	36	chr20	62837209	.	G	A	1506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.120;DP=777;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.16;ReadPosRankSum=-7.260e-01;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1132	20	0	1	0
chr20	62840553	62840553	G	A	exonic	COL9A3	.	nonsynonymous SNV	COL9A3:NM_001853:exon32:c.G1876A:p.V626M,	Epiphyseal dysplasia, multiple, 3, with or without myopathy, Autosomal dominant	.	4	1511	7	0	0	7	0.00231099	.	.	793847	COL9A3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.926	P	0.253	B	0.000	N	0.999	D	1.355	L	-2.17	D	-0.222	T	0.461	T	0.342	2.269	13.55	3.65	0.707	5.178	12.342	0.287	0.150572438147	0.0002	.	0.0004	0.0005	8.691e-05	0.0007	0	0.0001	0.0011	0.0017	0.0003169	49	154602	rs146407922	0.0002	0.0002	0.0002	0.0003	0.0020	0.0002	0.0002	0.0016	0.0016	0.0003	0.0001	0	0.0003	0	0.0020	8.365e-05	0.0002	0.0019	0.0002	0.0002	0.0002	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	0.0001	0	0.0003	0	0.0002	0	0	0.0002	0.0014	0.0008	0.447	0.09075	T	0.105	0.38016	T	0.926	0.51467	P	0.253	0.39112	B	0.000036	0.55875	N	0.120685	0.999319	0.46639	D	1.48	0.37141	L	-2.17	0.86624	D	-0.82	0.22508	N	0.243	0.27435	-0.2219	0.77101	T	0.461	0.79112	T	10	0.048279524	0.04257	T	0.150572	0.83224	D	0.287	0.60574	.	.	0.770406245332	0.76830	0.49815278097916077	0.49736	0.421488314731	0.42653	0.477091640234	0.35657	T	0.003686	0.03091	T	-0.273541	0.11365	T	-0.178929	0.56623	T	0.0556023954975193	0.06458	T	0.882912	0.60466	D	0.09110877	0.21340	0.06984541	0.14767	0.09110877	0.21340	0.06984541	0.14767	-4.362	0.29037	T	.	.	0.112	0.22061	B	.;.	.;.	2.773824	0.36418	20.2	0.98801730074682015	0.46461	0.97459	0.74885	D	AEFDBI	0.628109	0.61032	D	-0.147115134962824	0.35358	2.029862	-0.157988283125349	0.33103	1.89005	0.999426292069962	0.39630	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	5.63	3.65	0.40985	6.356000	0.72989	4.998000	0.46575	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.113000	0.18872	0.1388:0.0:0.8612:0.0	12.342	0.54424	829	0.39537	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1357.98	37	chr20	62840553	.	G	A	1357.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=944;ExcessHet=0.0000;FS=0.674;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=-1.084e+00;SOR=0.774	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1296	20	0	1	0
chr20	62854155	62854155	C	T	exonic	TCFL5	.	nonsynonymous SNV	TCFL5:NM_001301726:exon5:c.G1238A:p.R413H	.	.	437	1079	6	0	0	6	0.00277264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	0.999	D	0	N	-4.65	D	1.094	D	0.900	D	0.474	3.100	16.35	5.54	2.606	4.530	19.476	0.572	0.633903717718	0.0032	0.00199681	0.0028	0.0014	0.0012	0	0.0005	0.0039	0.0022	0.0027	0.0028978	448	154602	rs141195716	0.0038	0.0038	0.0038	0.0038	0.0043	0.0037	0.0037	0.0042	0.0042	0.0008	0.0024	0.0048	0	0.0002	0.0036	0.0043	0.0036	0.0029	0.0030	0.0030	0.0031	0.0030	0.0058	0.0028	0.0027	0.0048	0.0044	0.0013	0	0.0058	0.0040	0	0.0005	0.0034	0.0041	0.0033	0.0023	0.004	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000033	0.55875	D	0.000000	0.998577	0.45107	D	0	0.06538	N	-4.65	0.97938	D	-3.01	0.62518	D	0.548	0.57433	1.094	0.99422	D	0.900	0.96698	D	10	0.015259206	0.00320	T	0.633904	0.96862	D	0.572	0.82629	.	.	0.875356495459	0.87414	0.7614321275424738	0.76091	1.02607110514	0.75277	0.832493722439	0.86945	D	0.495538	0.81822	T	-0.128677	0.31709	T	0.0443075	0.73210	D	0.0148063299259157	0.00311	T	0.840916	0.52040	T	0.27712202	0.50771	0.24386941	0.49840	0.27712202	0.50771	0.24386941	0.49839	-10.932	0.79284	D	.	.	0.857	0.80642	P	.;.	.;.	4.709713	0.75645	26.4	0.99758208784551872	0.84851	0.95129	0.63544	D	AEFBI	0.510854	0.53973	D	0.50109244366513	0.67154	5.044066	0.565203061357608	0.72462	5.813584	0.999851029941191	0.44174	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	4.637000	0.61044	7.560000	0.60459	0.537000	0.25018	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.476	0.94979	798	0.45050	Myc-type, basic helix-loop-helix (bHLH) domain|Myc-type, basic helix-loop-helix (bHLH) domain|Myc-type, basic helix-loop-helix (bHLH) domain;Myc-type, basic helix-loop-helix (bHLH) domain|Myc-type, basic helix-loop-helix (bHLH) domain|Myc-type, basic helix-loop-helix (bHLH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	872.98	39	chr20	62854155	.	C	T	872.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.21;DP=768;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.91;ReadPosRankSum=0.298;SOR=0.751	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1162	20	0	1	0
chr20	62860234	62860234	A	G	exonic	TCFL5	.	nonsynonymous SNV	TCFL5:NM_001301726:exon2:c.T722C:p.L241S	.	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.077	B	0.046	B	0.064	N	0.994	N	0.55	N	0.88	T	-1.006	T	0.082	T	0.36	1.474	10.87	3.61	0.636	4.168	9.010	0.102	0.0253009711656	7.7e-05	0.000199681	4.943e-05	0	0	0	0	2.998e-05	0	0.0002	4.53e-05	7	154602	rs369138874	3.968e-05	3.967e-05	2.451e-05	5.502e-05	0.0009	3.113e-05	2.847e-05	0.0003	0.0002	0	2.236e-05	0	0	0	0.0009	1.979e-05	3.313e-05	0.0003	5.251e-05	5.249e-05	7.708e-05	2.685e-05	0.0002	2.555e-05	1.829e-05	3.762e-05	2.575e-05	2.405e-05	0	0	0	0	0	0	8.82e-05	0	0.0002	0.002	0.78490	D	0.068	0.46632	T	0.051	0.24313	B	0.02	0.24676	B	0.064191	0.21970	N	0.327491	0.994036	0.23600	N	0.97	0.24054	L	0.88	0.47130	T	-2.72	0.57920	D	0.354	0.40665	-1.0055	0.28307	T	0.082	0.32266	T	10	0.07898772	0.12655	T	0.025301	0.48274	D	0.102	0.29158	.	.	0.134007934775	0.12933	0.4207848371436087	0.41994	0.00602193082573	0.00527	0.559920728207	0.47257	T	0.039152	0.25092	T	-0.313446	0.07448	T	-0.383472	0.35315	T	0.132416894442001	0.15603	T	0.561944	0.19701	T	0.2005575	0.42035	0.19708054	0.43472	0.2005575	0.42035	0.19708054	0.43471	-3.098	0.11273	T	.	.	0.278	0.55257	B	.;.	.;.	3.125255	0.42209	21.5	0.98791295502531618	0.46301	0.80496	0.40118	D	AEFDGBCI	0.414380	0.48367	N	-0.501025761979289	0.22047	1.174485	-0.367268444215559	0.25980	1.432112	0.999999362903447	0.74766	0.660085	0.49399	0	0.581341	0.33841	0	0.662677	0.59975	0	0.71	0.69187	0	.	.	4.71	3.61	0.40494	4.233000	0.58451	8.985000	0.78499	-0.056000	0.16711	0.964000	0.33853	1.000000	0.68203	0.200000	0.21896	0.9143:0.0:0.0857:0.0	9.010	0.35297	799	0.44747	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1156.98	35	chr20	62860234	.	A	G	1156.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.360;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=-1.625e+00;SOR=0.710	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1235	20	0	1	0
chr20	62880836	62880836	T	A	exonic	DIDO1	.	nonsynonymous SNV	DIDO1:NM_001193369:exon16:c.A5120T:p.H1707L	.	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.0	B	0.001	B	0.862	N	0.848	D	0.55	N	3.16	T	-1.002	T	0.015	T	0.144	0.804	8.226	-2.12	-0.718	-0.241	7.493	0.021	0.0227488437212	0.0006	0.000599042	0.0007	0.0002	0.0004	0	0	0.0010	0.0011	0.0004	0.0005045	78	154602	rs143370037	0.0004	0.0004	0.0004	0.0005	0.0052	0.0004	0.0004	0.0037	0.0032	0.0002	0.0006	0.0085	0	5.755e-05	0.0052	0.0002	0.0014	0.0003	0.0005	0.0005	0.0005	0.0006	0.0008	0.0004	0.0004	0.0005	0.0004	0.0002	0	0.0008	0.0069	0	0.0002	0.0068	0.0004	0.0014	0.0006	0.304	0.14303	T	0.646	0.06836	T	0.0	0.02946	B	0.001	0.04355	B	0.861985	0.07122	N	1.089380	1	0.08975	N	0.755	0.19153	N	3.16	0.07711	T	-1.61	0.38734	N	0.066	0.06720	-1.0015	0.29488	T	0.015	0.05801	T	10	0.004203081	0.00084	T	0.022749	0.45666	T	0.021	0.04004	.	.	0.128874641272	0.12493	0.237234450732513	0.23638	0.456234296381	0.45275	0.329629123211	0.14878	T	0.153572	0.49448	T	-0.583805	0.00183	T	-0.707622	0.05419	T	0.00177285083376129	0.00018	T	0.286971	0.05151	T	0.070788905	0.15623	0.041441638	0.04711	0.070788905	0.15622	0.041441638	0.04711	-2.477	0.05626	T	.	.	0.074	0.05535	B	.;.	.;.	0.058601	0.04700	1.340	0.36942450541150562	0.02405	0.15047	0.18717	N	AEFDBCI	0.053649	0.09685	N	-1.51945011247531	0.01721	0.07536517	-1.53846381545006	0.02056	0.09401413	0.573955209775106	0.21515	0.651	0.46895	0	0.708844	0.79440	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	5.21	-2.12	0.06766	-0.052000	0.11821	-0.725000	0.07688	-0.109000	0.15193	0.019000	0.19563	0.000000	0.08366	0.039000	0.14166	0.215:0.0:0.3268:0.4582	7.493	0.26642	814	0.42100	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1701.98	40	chr20	62880836	.	T	A	1701.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=890;ExcessHet=0.0000;FS=3.319;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.30;ReadPosRankSum=2.54;SOR=0.996	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1213	20	0	1	0
chr20	62881068	62881068	C	T	exonic	DIDO1	.	nonsynonymous SNV	DIDO1:NM_001193369:exon16:c.G4888A:p.E1630K	.	.	418	1084	19	1	0	21	0.00959342	.	.	742526	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.83	T	0.006	B	0.001	B	0.567	N	1.000	N	0	N	3.15	T	-0.963	T	0.005	T	0.067	0.454	6.464	-2.67	-0.683	-0.685	2.289	0.033	.	0.0002	0.00439297	0.0033	0.0003	0.0003	0.0286	0	0.0003	0.0015	0.0059	0.0026261	406	154602	rs201746991	0.0012	0.0012	0.0010	0.0013	0.0214	0.0011	0.0011	0.0202	0.0197	0.0001	0.0005	0.0014	0.0214	2.028e-05	0.0019	0.0001	0.0040	0.0048	0.0014	0.0014	0.0013	0.0015	0.0264	0.0012	0.0012	0.0228	0.0215	0.0002	0	0.0012	0.0020	0.0264	0	0	0.0002	0.0024	0.0043	0.345	0.12511	T	0.496	0.11335	T	0.006	0.13644	B	0.001	0.04355	B	0.566787	0.05456	N	1.370700	1	0.08975	N	0.345	0.11182	N	3.15	0.07820	T	-0.69	0.19720	N	0.048	0.01999	-0.9625	0.38704	T	0.005	0.01506	T	10	0.0031928718	0.00054	T	.	.	.	0.033	0.08068	.	.	0.262679179196	0.25893	0.25062993531497235	0.24976	0.413178759555	0.42034	0.393840461969	0.24209	T	0.07762	0.35697	T	-0.742497	0.00020	T	-0.812862	0.01602	T	0.00300392465688742	0.00031	T	0.517348	0.16736	T	0.04582877	0.07568	0.03772025	0.03484	0.04582877	0.07567	0.03772025	0.03484	-3.976	0.23443	T	.	.	0.069	0.03128	B	.;.	.;.	0.279582	0.06563	3.054	0.64074853510350438	0.07394	0.11336	0.16566	N	AEFDGBCI	0.057267	0.10653	N	-1.3356885435977	0.03276	0.1460473	-1.35017390719816	0.03804	0.1781757	0.890231463533723	0.25831	0.700653	0.57754	0	0.708844	0.79440	0	0.717052	0.78885	0	0.635551	0.53088	0	.	.	5.06	-2.67	0.05703	-1.057000	0.03596	0.469000	0.18693	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.012000	0.09680	0.0969:0.2824:0.2501:0.3707	2.289	0.03881	814	0.42100	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	997.98	40	chr20	62881068	.	C	T	997.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.71;DP=853;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.10;ReadPosRankSum=-8.240e-01;SOR=0.678	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1213	20	0	1	0
chr20	62896738	62896738	G	A	exonic	DIDO1	.	nonsynonymous SNV	DIDO1:NM_001193369:exon7:c.C1847T:p.P616L	.	.	421	1069	32	0	0	32	0.0147465	.	.	2824601	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.28	T	0.002	B	0.001	B	0.269	N	1.000	N	-0.535	N	2.99	T	-0.961	T	0.009	T	0.077	-0.349	2.352	2.19	0.155	1.389	3.938	0.023	0.0161839697626	0.0012	0.00179712	0.0017	0	0.0009	0.0001	0	0.0020	0.0033	0.0033	0.0015718	243	154602	rs141286941	0.0013	0.0013	0.0012	0.0015	0.0243	0.0013	0.0013	0.0210	0.0198	0.0002	0.0013	0.0036	7.558e-05	1.882e-05	0.0243	0.0011	0.0022	0.0031	0.0014	0.0014	0.0015	0.0014	0.0035	0.0013	0.0012	0.0022	0.0018	0.0002	0	0.0017	0.0032	0	0	0.0170	0.0021	0.0043	0.0035	0.29	0.15303	T	0.447	0.15602	T	0.001	0.09854	B	0.0	0.04355	B	0.268630	0.15171	N	0.467007	1	0.08975	N	0.05	0.08135	N	2.99	0.13095	T	-2.02	0.49846	N	0.042	0.01911	-0.9607	0.39050	T	0.009	0.03096	T	10	0.003640741	0.00066	T	0.016184	0.37308	T	0.023	0.04649	.	.	0.082315109003	0.07666	0.17859476949119857	0.17778	0.376070962561	0.39050	0.312232494354	0.12243	T	0.120741	0.44321	T	-0.691157	0.00041	T	-0.768626	0.02813	T	0.00609465993545652	0.00067	T	0.69563	0.30512	T	0.029675107	0.02500	0.033476338	0.02250	0.029675107	0.02500	0.033476338	0.02250	-4.871	0.35407	T	.	.	0.059	0.01622	B	.;.;.	.;.;.	1.165825	0.15551	11.93	0.51831254512982572	0.04635	0.04233	0.09754	N	AEFDBCI	0.024205	0.01462	N	-1.17664540079205	0.05354	0.2438813	-1.11156375339998	0.07478	0.3639165	0.993926152137287	0.33413	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.58	2.19	0.26890	0.854000	0.27445	3.603000	0.39228	-0.135000	0.12811	0.065000	0.21925	0.972000	0.29809	0.001000	0.02609	0.6774:0.0:0.1332:0.1894	3.938	0.08811	798	0.45050	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3648.11	72	chr20	62896738	.	G	A	3648.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.22;DP=2002;ExcessHet=0.1072;FS=3.446;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.31;ReadPosRankSum=0.835;SOR=0.597	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	19	0	2	0
chr20	63006479	63006484	CGCCGC	-	exonic	BHLHE23	.	nonframeshift deletion	BHLHE23:NM_080606:exon1:c.291_296del:p.R98_R99del,	.	.	321	1199	2	0	0	2	0.000833333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1019982118	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0004	0.0004	8.613e-05	0.0001	6.268e-05	0	0	0	0.0005	0.0002	0.0001	0.0004	0.0004	0.0004	0.0004	0.0009	0.0003	0.0003	0.0006	0.0004	0.0002	0.0011	0.0009	0	0	0	0	0.0005	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	663.94	19	chr20	63006478	.	GCGCCGC	G	663.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=675;ExcessHet=0.0000;FS=3.267;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.89;ReadPosRankSum=-6.210e-01;SOR=1.371	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1009	20	0	1	0
chr20	63250045	63250045	-	A	exonic	NKAIN4	.	stopgain	NKAIN4:NM_152864:exon2:c.81dupT:p.D28*,	.	.	430	1083	7	2	0	11	0.00505282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.275e-05	0.0002	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs775737748	3.472e-05	3.489e-05	9.656e-06	6.013e-05	0.0006	2.671e-05	2.411e-05	0.0004	0.0004	0	0	0	0	0	0	0	5.04e-05	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1542.94	39	chr20	63250045	.	C	CA	1542.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=861;ExcessHet=0.0000;FS=4.770;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=-5.560e-01;SOR=1.219	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1263	20	0	1	0
chr20	63277245	63277245	C	T	exonic	ARFGAP1	.	nonsynonymous SNV	ARFGAP1:NM_001281483:exon4:c.C224T:p.S75L	.	.	419	1100	3	0	0	3	0.00136178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.387	B	0.103	B	0.000	D	1.000	D	1.39	L	1.44	T	-0.971	T	0.087	T	0.177	3.166	16.59	5.1	2.372	3.467	16.699	0.062	.	0.0033	0.00359425	0.0046	0.0012	0.0138	0	0.0021	0.0053	0.0059	0.0004	0.0044437	687	154602	rs112090089	0.0038	0.0038	0.0038	0.0037	0.0115	0.0037	0.0036	0.0107	0.0104	0.0008	0.0115	0.0021	0	0.0025	0.0045	0.0041	0.0030	0.0004	0.0041	0.0041	0.0043	0.0039	0.0065	0.0038	0.0037	0.0055	0.0052	0.0012	0.0154	0.0065	0.0023	0	0.0031	0	0.0059	0.0090	0.0012	0.005	0.65419	D	0.094	0.69154	T	0.021	0.18474	B	0.007	0.14300	B	0.000002	0.62929	D	0.057437	0.999869	0.81001	D	2.25	0.63811	M	0.87	0.47815	T	-2.69	0.61722	D	0.2	0.25377	-0.9707	0.37052	T	0.087	0.33774	T	10	0.0073646605	0.00167	T	.	.	.	0.062	0.17934	.	.	0.507152531357	0.50353	0.30989034593472037	0.30902	0.110025136405	0.12406	0.336522698402	0.15917	T	0.18454	0.53723	T	-0.478769	0.00752	T	-0.450107	0.27685	T	0.0299985549280441	0.01990	T	0.89941	0.67839	D	0.3211507	0.54737	0.23370883	0.48567	0.3211507	0.54737	0.23370883	0.48566	-5.813	0.77254	T	.	.	0.072	0.10014	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.430975	0.47680	22.5	0.99829087005309713	0.91112	0.95439	0.64725	D	AEFGBCI	0.594256	0.58926	D	-0.0838899548376716	0.38098	2.226257	0.0306783309786777	0.41148	2.467231	0.999999999143705	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.1	5.1	0.68917	3.445000	0.52685	2.658000	0.33861	0.599000	0.40250	0.996000	0.39380	0.992000	0.31684	0.608000	0.31589	0.0:1.0:0.0:0.0	16.699	0.85201	.	.	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1029.98	34	chr20	63277245	.	C	T	1029.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=773;ExcessHet=0.0000;FS=5.439;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=-8.970e-01;SOR=1.257	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1272	20	0	1	0
chr20	63305923	63305923	G	A	exonic	COL20A1	.	nonsynonymous SNV	COL20A1:NM_020882:exon5:c.G380A:p.R127K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.004	B	0.004	N	1.000	N	0.625	N	-2.18	D	-0.845	T	0.333	T	0.051	1.272	10.15	1.6	0.656	1.401	7.714	0.141	0.0465096737716	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1036873685	2.739e-06	3.42e-06	1.362e-06	4.129e-06	0.0003	6.4e-07	4.3e-07	6.092e-05	2.521e-05	2.987e-05	0	0	0	0	0.0003	8.994e-07	0	0	6.57e-06	6.567e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.403	0.10378	T	0.268	0.24193	T	0.002	0.09854	B	0.004	0.10090	B	0.003906	0.34342	N	0.250879	1	0.08975	N	0.625	0.15840	N	-2.22	0.87038	D	-0.68	0.19509	N	0.121	0.11197	-0.8447	0.52331	T	0.333	0.70059	T	10	0.08090544	0.13184	T	0.04651	0.62489	D	0.141	0.37795	0.259	0.20159	0.7459921215	0.74370	0.09435587817845459	0.09367	0.0357197416899	0.03767	0.397604525089	0.24735	T	0.002999	0.02402	T	-0.183892	0.23160	T	-0.501924	0.22148	T	0.0764449089765549	0.09526	T	0.372463	0.08834	T	0.045760736	0.07545	0.039964445	0.04210	0.045760736	0.07544	0.039964445	0.04210	-3.964	0.24355	T	.	.	0.079	0.11461	B	.;.	.;.	0.373445	0.07458	4.093	0.83051028853224329	0.14516	0.13320	0.17789	N	AEFBCI	0.078188	0.15772	N	-1.10775412623325	0.06505	0.2995983	-1.10878900088262	0.07532	0.3667144	1.89137124312009E-5	0.02871	0.514905	0.20481	0	0.547309	0.14657	0	0.603688	0.36954	0	0.542086	0.14980	0	.	.	3.64	1.6	0.22686	0.546000	0.22991	0.682000	0.20689	0.509000	0.23192	0.002000	0.15269	0.910000	0.28117	0.003000	0.05239	0.23:0.0:0.77:0.0	7.714	0.27860	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	579.98	42	chr20	63305923	.	G	A	579.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=734;ExcessHet=0.0000;FS=2.837;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.81;ReadPosRankSum=-2.770e-01;SOR=0.280	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1124	20	0	1	0
chr20	63307504	63307504	C	T	exonic	COL20A1	.	nonsynonymous SNV	COL20A1:NM_020882:exon6:c.C511T:p.R171C,	.	.	402	1117	3	0	0	3	0.00134108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.997	D	0.505	P	0.192	U	0.923	N	0.695	N	-1.13	T	-0.730	T	0.277	T	0.293	2.740	15.12	2.95	1.735	0.936	9.690	0.234	0.167628331564	0.0002	.	0.0005	0	0.0004	0.0027	0.0002	0.0004	0	6.273e-05	0.0004463	69	154602	rs200049003	0.0004	0.0004	0.0003	0.0004	0.0049	0.0003	0.0003	0.0035	0.0030	0.0001	0.0004	0.0002	0.0029	0	0.0049	0.0003	0.0004	0.0004	0.0003	0.0003	0.0003	0.0003	0.0027	0.0003	0.0002	0.0016	0.0013	0.0001	0	0.0004	0	0.0027	0	0	0.0003	0	0.0006	0.161	0.23631	T	0.003	0.79402	D	0.997	0.70673	D	0.505	0.47795	P	0.191611	0.16831	U	0.565368	0.922762	0.27253	N	0.895	0.22405	L	-1.13	0.77719	T	-2.45	0.53577	N	0.208	0.25745	-0.7298	0.58974	T	0.277	0.64865	T	10	0.028537959	0.00985	T	0.167628	0.84594	D	0.234	0.53644	.	.	0.727762340621	0.72534	0.1726882488705755	0.17188	0.0422098634338	0.04548	0.228284418583	0.01843	T	0.022403	0.17275	T	-0.398966	0.02352	T	-0.349228	0.39292	T	0.0342459721018273	0.02679	T	0.70113	0.31087	T	0.102977395	0.24337	0.08792824	0.20469	0.102977395	0.24337	0.08792824	0.20468	-8.054	0.62196	D	.	.	0.110	0.21011	B	.;.	.;.	2.711670	0.35449	19.90	0.99762681398896291	0.85172	0.36548	0.25558	N	AEFGBI	0.186875	0.31418	N	-0.292106197602064	0.29451	1.633376	-0.385475438740705	0.25429	1.398382	3.0550701273712E-4	0.06454	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.92	2.95	0.33285	0.796000	0.26646	0.039000	0.13841	0.454000	0.21428	0.080000	0.22340	0.002000	0.18203	0.240000	0.23001	0.0:0.8966:0.0:0.1034	9.690	0.39286	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1095.98	36	chr20	63307504	.	C	T	1095.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.523;DP=797;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.85;ReadPosRankSum=1.57;SOR=0.737	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1370	20	0	1	0
chr20	63313142	63313142	C	T	exonic	COL20A1	.	nonsynonymous SNV	COL20A1:NM_020882:exon17:c.C2102T:p.T701M,	.	.	401	1083	38	0	0	38	0.0172414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.759	P	0.117	B	0.610	N	1.000	N	1.265	L	0.26	T	-1.023	T	0.113	T	0.062	0.341	5.847	2.9	0.754	0.122	6.417	0.094	.	0.0009	0.00658946	0.0065	0	0.0016	0	0	0.0019	0.0143	0.0359	0.0045924	710	154602	rs113242150	0.0027	0.0027	0.0017	0.0037	0.0296	0.0026	0.0026	0.0287	0.0283	0.0001	0.0014	0.0001	7.567e-05	5.764e-05	0.0102	0.0010	0.0032	0.0296	0.0018	0.0019	0.0013	0.0024	0.0305	0.0017	0.0016	0.0265	0.0249	0.0002	0	0.0025	0	0.0002	9.414e-05	0.0068	0.0012	0.0024	0.0305	0.077	0.34982	T	0.237	0.24621	T	0.607	0.43487	P	0.117	0.32014	B	0.609661	0.10879	N	0.817953	1	0.08975	N	1.72	0.44442	L	0.26	0.59314	T	-3.29	0.65742	D	0.133	0.12913	-1.0227	0.22834	T	0.113	0.40331	T	10	0.0076607764	0.00174	T	.	.	.	0.094	0.27141	.	.	0.730699672202	0.72830	0.25479017859737224	0.25393	0.0497487252383	0.05457	0.357383310795	0.19004	T	0.128185	0.45567	T	-0.594325	0.00158	T	-0.604171	0.12463	T	0.0291026394544196	0.01853	T	0.712229	0.32360	T	0.034003984	0.03731	0.092387505	0.21771	0.034003984	0.03731	0.092387505	0.21771	-8.263	0.62848	D	.	.	0.085	0.10111	B	.;.	.;.	0.905163	0.12791	9.309	0.97311240046282699	0.33327	0.02600	0.07167	N	AEFDGBI	0.050795	0.08912	N	-0.653222444637911	0.17367	0.8930204	-0.759528915141065	0.15489	0.8148297	0.999658416521462	0.41424	0.580535	0.33130	0	0.578056	0.33634	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.85	2.9	0.32809	0.711000	0.25436	0.002000	0.13306	-0.370000	0.05448	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7673:0.0:0.2327	6.417	0.20924	.	.	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1803.98	40	chr20	63313142	.	C	T	1803.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.238;DP=861;ExcessHet=0.0000;FS=0.625;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.79;ReadPosRankSum=0.710;SOR=0.758	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1277	20	0	1	0
chr20	63319083	63319083	C	T	exonic	COL20A1	.	nonsynonymous SNV	COL20A1:NM_020882:exon22:c.C2689T:p.P897S,	.	.	433	1079	10	0	0	10	0.00461255	.	.	3307169	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.45	T	0.956	P	0.722	P	0.000	D	1.000	N	1.125	L	4.5	T	-0.922	T	0.009	T	0.352	-0.128	3.373	0.976	-0.060	0.076	7.17	0.071	0.00561344173684	0.0002	.	0.0006	0.0001	8.691e-05	0	0	0.0009	0.0011	0.0006	0.0005175	80	154602	rs200164977	0.0004	0.0004	0.0004	0.0005	0.0024	0.0004	0.0004	0.0015	0.0012	2.991e-05	0.0004	0.0098	0	0	0.0024	0.0002	0.0009	0.0004	0.0003	0.0003	0.0003	0.0004	0.0002	0.0003	0.0002	6.81e-05	5.092e-05	0	0.0044	0.0002	0.0098	0	0	0	0.0001	0.0010	0.0002	0.19	0.21144	T	0.145	0.35205	T	0.819	0.54666	P	0.334	0.54942	B	0.000171	0.48594	D	0.140481	1	0.08975	N	1.185	0.30054	L	4.5	0.02032	T	-2.89	0.60665	D	0.204	0.22742	-0.9216	0.45334	T	0.009	0.03403	T	10	0.008271068	0.00188	T	0.005613	0.14500	T	0.071	0.20720	.	.	0.257786959452	0.25393	0.1486722946313925	0.14789	0.0376229206276	0.03990	0.524364709854	0.42242	T	0.019398	0.15464	T	-0.447414	0.01169	T	-0.552496	0.17087	T	0.100084526710047	0.12366	T	0.60384	0.22664	T	0.057726633	0.11524	0.08008888	0.18088	0.057726633	0.11524	0.08008888	0.18087	-8.58	0.64957	D	.	.	0.077	0.06387	B	.;.	.;.	0.448904	0.08191	4.926	0.87825934592898192	0.17510	0.07890	0.13880	N	AEFBI	0.103579	0.20749	N	-0.628742977561015	0.18085	0.9360833	-0.795887070540839	0.14595	0.7634494	4.2512773068011E-4	0.06935	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.21	0.976	0.18846	0.078000	0.14615	0.336000	0.17333	0.526000	0.24426	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3157:0.376:0.3083:0.0	7.17	0.24889	.	.	Laminin G domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2090.98	35	chr20	63319083	.	C	T	2090.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=908;ExcessHet=0.0000;FS=8.181;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.45;ReadPosRankSum=0.555;SOR=0.484	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1422	20	0	1	0
chr20	63320093	63320093	G	A	exonic	COL20A1	.	nonsynonymous SNV	COL20A1:NM_020882:exon24:c.G2971A:p.V991M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.994	D	0.909	D	0.029	N	0.851	N	2.275	M	4.22	T	-1.143	T	0.024	T	0.291	2.318	13.71	3.1	2.002	2.810	5.730	0.115	0.0181551795888	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1427560452	2.853e-06	3.42e-06	0	5.779e-06	5.02e-05	6.7e-07	4.5e-07	1.672e-05	9.9e-06	0	0	0	0	0	0	0	0	5.02e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.006	0.74150	D	0.99	0.66517	D	0.813	0.64565	P	0.028855	0.25540	N	0.352365	0.851328	0.28492	N	2.86	0.83026	M	4.22	0.02640	T	-2.45	0.54702	N	0.425	0.49055	-1.1428	0.01257	T	0.024	0.10194	T	10	0.32790357	0.50067	T	0.018155	0.40130	T	0.115	0.32236	0.523	0.62668	0.27479166964	0.27093	0.1192751709653272	0.11854	0.247206810999	0.27258	0.760843336582	0.76054	T	0.054753	0.29813	T	-0.302112	0.08462	T	-0.476768	0.24791	T	0.637432634830475	0.37928	D	0.90391	0.77272	D	0.15588082	0.35207	0.20515351	0.44672	0.15588082	0.35206	0.20515351	0.44671	-6.145	0.47963	T	.	.	0.208	0.50609	B	.;.;.	.;.;.	3.398752	0.47096	22.4	0.99772396159058008	0.86003	0.74373	0.36382	D	AEFBI	0.231853	0.35502	N	0.362722138964206	0.59415	4.120667	0.245889363409442	0.52417	3.416562	0.00535715589833307	0.10912	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.07	3.1	0.34780	2.288000	0.43175	5.598000	0.49017	0.592000	0.32167	1.000000	0.71638	1.000000	0.68203	0.172000	0.21044	0.2175:0.0:0.7825:0.0	5.730	0.17301	.	.	Laminin G domain;.;Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1019.98	33	chr20	63320093	.	G	A	1019.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.770e-01;DP=822;ExcessHet=0.0000;FS=2.968;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=1.11;SOR=0.494	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1131	20	0	1	0
chr20	63328427	63328427	C	A	exonic	COL20A1	.	nonsynonymous SNV	COL20A1:NM_020882:exon34:c.C3710A:p.S1237Y,	.	.	419	1099	4	0	0	4	0.00181653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.159	B	0.102	B	0.009	U	1.000	N	0.345	N	-2.18	D	-0.453	T	0.435	T	0.096	1.862	12.19	-0.843	-0.123	0.014	2.915	0.180	0.0741124309635	8.3e-05	0.000399361	0.0004	0	0	0	0	6.527e-05	0.0050	0.0027	0.0003299	51	154602	rs376331855	0.0002	0.0002	0.0001	0.0003	0.0026	0.0002	0.0002	0.0023	0.0022	0	8.963e-05	0	0	0	0.0009	6.657e-05	0.0001	0.0026	0.0001	0.0001	3.853e-05	0.0002	0.0029	7.084e-05	5.742e-05	0.0018	0.0014	0	0	0	0	0	0	0	2.94e-05	0.0005	0.0029	0.13	0.26740	T	0.072	0.51421	T	0.099	0.28304	B	0.068	0.30857	B	0.008995	0.01226	U	7.789720	1	0.08975	N	1.79	0.46772	L	-2.2	0.91134	D	-1.7	0.49684	N	0.204	0.25745	-0.4532	0.70294	T	0.435	0.77562	T	10	0.0151847005	0.00319	T	0.074112	0.71959	D	0.180	0.45073	.	.	0.743827233159	0.74152	0.6118707473840612	0.61119	0.0435624466972	0.04694	0.290117442608	0.08940	T	0.010514	0.09491	T	-0.393753	0.02544	T	-0.343923	0.39899	T	0.0306709875521795	0.02094	T	0.50025	0.16784	T	0.08735043	0.20336	0.15779409	0.36879	0.08735043	0.20336	0.15779409	0.36878	-5.368	0.40611	T	.	.	0.079	0.21390	B	.;.;.;.	.;.;.;.	0.366270	0.07386	4.012	0.95756086064517343	0.27736	0.03784	0.09106	N	AEFDBI	0.055319	0.10135	N	-1.19552857413308	0.05068	0.2301503	-1.21934689320945	0.05599	0.26724	6.30313624135973E-4	0.07482	0.422189	0.06491	0	0.547309	0.14657	0	0.600433	0.31921	0	0.613276	0.41899	0	.	.	2.73	-0.843	0.10200	-0.780000	0.04759	0.564000	0.19539	0.454000	0.21428	0.000000	0.06391	0.000000	0.08366	0.032000	0.13371	0.2178:0.4852:0.0:0.297	2.915	0.05397	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1376.98	36	chr20	63328427	.	C	A	1376.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.120;DP=865;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.30;ReadPosRankSum=0.940;SOR=0.741	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1091	20	0	1	0
chr20	63350051	63350051	C	T	exonic	CHRNA4	.	nonsynonymous SNV	CHRNA4:NM_000744:exon5:c.G1360A:p.G454S	Epilepsy, nocturnal frontal lobe, 1, Autosomal dominant	.	1	1518	3	0	0	3	0.000987167	.	.	203653	Inborn_genetic_diseases|Autosomal_dominant_nocturnal_frontal_lobe_epilepsy|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0020300,MedGen:C3696898,Orphanet:98784|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.95	T	0.001	B	0.005	B	0.000	N	1.000	N	0.145	N	-0.94	T	-0.887	T	0.194	T	0.139	-2.211	0.005	-0.193	-0.056	-0.147	12.235	0.160	0.0745075943865	.	.	0.0009	0	0.0023	0	0	0.0009	0	0.0024	0.000207	32	154602	rs78306886	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	3.231e-05	0.0002	0	0	0.0003	0	0.0002	0.0002	0.0004	0.0002	0.0002	0.0001	0.0002	0.0008	0.0001	8.715e-05	0.0003	0.0002	2.406e-05	0	0	0	0	0.0002	0	0.0002	0	0.0008	1.0	0.00964	T	0.357	0.18846	T	0.001	0.07471	B	0.001	0.04355	B	0.000000	0.00162	N	23.961300	1	0.08975	N	-0.305	0.03614	N	-0.94	0.75325	T	-0.06	0.07882	N	0.064	0.03613	-0.8873	0.49163	T	0.194	0.54811	T	10	0.015547037	0.00326	T	0.074508	0.72059	D	0.160	0.41473	.	.	0.453772157364	0.45001	0.231048860098491	0.23019	0.397231007556	0.40817	0.37100815773	0.20977	T	0.202893	0.56120	T	-0.461284	0.00965	T	-0.519651	0.20331	T	0.00605308653931316	0.00067	T	0.524448	0.17180	T	0.04909112	0.08663	0.07633782	0.16897	0.04909112	0.08663	0.07633782	0.16897	-3.501	0.16445	T	0.03734474626800161	0.00248	0.065	0.04640	B	.;.	.;.	-0.819570	0.01069	0.047	0.40278633091310984	0.02832	0.01472	0.04908	N	AEFBI	0.058499	0.10979	N	-1.57011433014381	0.01420	0.06194469	-1.5450640880822	0.02010	0.09184581	6.93613943505824E-4	0.07645	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.55	-0.193	0.12593	-0.145000	0.10248	-5.628000	0.01651	-0.703000	0.04025	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7993:0.0:0.2007	12.235	0.53821	.	.	Neurotransmitter-gated ion-channel transmembrane domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.02381	1405.98	103	chr20	63350051	.	C	T	1405.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=2147;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=0.352;SOR=0.647	GT:AD:DP:GQ:PL	0/0:103,0:103:99:0,120,1800	20	0	1	0
chr20	63541342	63541344	GTC	-	exonic	SRMS	.	nonframeshift deletion	SRMS:NM_080823:exon7:c.1132_1134del:p.D378del,	.	.	416	1097	9	0	0	9	0.00408534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.00199681	0.0012	0.0004	0.0005	0.0042	0	0.0002	0.0013	0.0079	0.000461	12	26028	rs373947266	0.0006	0.0006	0.0004	0.0009	0.0069	0.0006	0.0006	0.0064	0.0062	0.0007	0.0001	4.65e-05	0.0042	0	0.0022	6.119e-05	0.0013	0.0069	0.0006	0.0006	0.0005	0.0008	0.0075	0.0005	0.0005	0.0055	0.0049	0.0006	0	0.0003	0	0.0035	0	0	0.0001	0.0019	0.0075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3155.94	36	chr20	63541341	.	TGTC	T	3155.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.963;DP=944;ExcessHet=0.0000;FS=0.546;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.44;ReadPosRankSum=-8.300e-01;SOR=0.747	GT:AD:DP:GQ:PL	0/1:98,83:181:99:3170,0,3839	20	0	1	0
chr20	63547160	63547160	C	T	exonic	SRMS	.	nonsynonymous SNV	SRMS:NM_080823:exon1:c.G304A:p.V102M,	.	.	429	1083	9	1	0	11	0.00505282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.857	P	0.000	D	0.879	N	3.905	H	0.62	T	-0.254	T	0.375	T	0.451	2.763	15.20	4.51	2.053	1.075	12.701	0.247	0.08619345236	0.0008	.	0.0012	0.0004	0.0017	0.0001	0.0003	0.0009	0.0036	0.0035	0.0010155	157	154602	rs138464879	0.0009	0.0009	0.0008	0.0010	0.0042	0.0009	0.0008	0.0031	0.0030	0.0003	0.0010	0	2.526e-05	0.0004	0.0042	0.0008	0.0009	0.0034	0.0006	0.0006	0.0006	0.0006	0.0021	0.0005	0.0005	0.0011	0.0009	0.0003	0	0.0005	0	0	0.0005	0.0034	0.0008	0.0005	0.0021	0.001	0.78490	D	0.003	0.76473	D	0.998	0.73220	D	0.857	0.61067	P	0.000176	0.48594	D	0.000000	0.878905	0.28083	N	4	0.96753	H	0.62	0.53302	T	-2.18	0.49187	N	0.469	0.50508	-0.2543	0.76243	T	0.375	0.73302	T	10	0.051735282	0.05101	T	0.086193	0.74686	D	0.247	0.55478	.	.	0.556733452047	0.55333	0.5273764860082296	0.52661	0.634652527307	0.57311	0.46648401022	0.34199	T	0.269718	0.64193	T	-0.355904	0.04367	T	-0.287373	0.46044	T	0.117160839907432	0.14149	T	0.69903	0.30897	T	0.6387308	0.74763	0.50371265	0.71312	0.6387308	0.74764	0.50371265	0.71313	-9.791	0.72650	D	.	.	0.506	0.64835	A	.	.	3.441952	0.47889	22.5	0.99798441916423419	0.88372	0.60453	0.31200	D	AEFDBI	0.077111	0.15530	N	0.347333977292598	0.58599	4.033104	0.124060493655545	0.45782	2.835346	0.0169534973870808	0.12894	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.51	4.51	0.54589	1.023000	0.29668	1.456000	0.26643	0.549000	0.26987	0.604000	0.27780	0.839000	0.27283	0.021000	0.11733	0.0:0.8337:0.1663:0.0	12.701	0.56403	.	.	SH3 domain|SH3 domain|SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1431.98	34	chr20	63547160	.	C	T	1431.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=822;ExcessHet=0.0000;FS=0.640;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=0.484;SOR=0.613	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1406	20	0	1	0
chr20	63561446	63561446	C	T	exonic	HELZ2	.	nonsynonymous SNV	HELZ2:NM_033405:exon8:c.G5150A:p.R1717Q	.	.	425	1087	10	0	0	10	0.00457875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	1.0	D	0.991	D	0.766	N	0.971	D	1.19	L	-1.54	D	-0.293	T	0.536	D	0.363	3.702	18.80	4.46	2.196	2.834	11.503	0.333	0.0711896520816	7.7e-05	.	0.0003	9.899e-05	0.0004	0	0	6.14e-05	0.0012	0.0015	0.0002264	35	154602	rs377628074	0.0002	0.0002	8.186e-05	0.0002	0.0028	0.0001	0.0001	0.0018	0.0017	0	0.0001	0	0	0	0.0028	2.07e-05	0.0003	0.0020	5.253e-05	5.249e-05	3.855e-05	6.714e-05	0.0012	2.556e-05	1.829e-05	0.0005	0.0004	2.405e-05	0	0	0	0	0	0	1.471e-05	0	0.0012	0.082	0.33254	T	0.035	0.52389	D	0.999	0.90584	D	0.966	0.79672	D	0.766281	0.09582	N	0.857968	0.971044	0.38842	D	1.325	0.33218	L	-1.54	0.81640	D	-2.26	0.53258	N	0.464	0.54932	-0.2935	0.75167	T	0.536	0.82854	D	10	0.070828885	0.10358	T	0.07119	0.71204	D	0.333	0.65522	.	.	0.671013503938	0.66823	0.5252025767368174	0.52444	0.773432479962	0.64893	0.533091664314	0.43470	T	0.227268	0.59251	T	-0.291813	0.09455	T	-0.216573	0.53067	T	0.0717606276334605	0.08896	T	0.89721	0.64041	D	0.26178193	0.49237	0.13710324	0.32781	0.26178193	0.49237	0.13710324	0.32780	-4.659	0.32904	T	.	.	0.127	0.28750	B	.;.	.;.	4.682045	0.74937	26.2	0.99938172093669664	0.99698	0.96027	0.67203	D	AEFDGBI	0.270643	0.38666	N	0.334820769620035	0.57943	3.963954	0.305031323910823	0.55835	3.746296	0.917380342497508	0.26540	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.46	4.46	0.53567	1.166000	0.31444	3.915000	0.40434	0.549000	0.26987	0.656000	0.28225	0.999000	0.35428	0.952000	0.50033	0.3141:0.6859:0.0:0.0	11.503	0.49697	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1790.98	40	chr20	63561446	.	C	T	1790.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=997;ExcessHet=0.0000;FS=4.078;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.27;ReadPosRankSum=1.17;SOR=0.600	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr20	63564308	63564308	C	T	exonic	HELZ2	.	nonsynonymous SNV	HELZ2:NM_033405:exon3:c.G2807A:p.C936Y	.	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.102	B	0.048	B	0.144	N	0.802	N	1.73	L	1.29	T	-0.977	T	0.096	T	0.276	-0.655	1.120	3.81	0.999	3.035	14.713	0.050	0.00945320688186	0.0002	.	0.0002	0	0	0	0	7.028e-05	0	0.0007	8.41e-05	13	154602	rs376276481	7.516e-05	7.525e-05	4.525e-05	0.0001	0.0017	6.365e-05	5.919e-05	0.0009	0.0007	0	0	0	0	0	0.0017	1.805e-05	0.0002	0.0008	3.284e-05	3.283e-05	3.853e-05	2.689e-05	0.0004	1.26e-05	7.98e-06	7.276e-05	3.024e-05	0	0	0	0	0.0002	0	0	1.47e-05	0.0005	0.0004	0.158	0.23905	T	0.004	0.74150	D	0.083	0.25827	B	0.029	0.24975	B	0.143557	0.18207	N	0.628625	0.801953	0.29104	N	2.57	0.75187	M	1.29	0.35775	T	-4.22	0.76094	D	0.335	0.37613	-0.9766	0.35772	T	0.096	0.36212	T	10	0.056088388	0.06233	T	0.009453	0.24763	T	0.050	0.13987	.	.	0.295623431141	0.29171	0.5070300993224843	0.50625	0.527292994097	0.50338	0.306897431612	0.11438	T	0.176139	0.52597	T	-0.419036	0.01735	T	-0.467429	0.25793	T	0.112130545079708	0.13643	T	0.517048	0.16713	T	0.25113803	0.48120	0.39675203	0.64308	0.25113803	0.48120	0.39675203	0.64308	-7.145	0.58353	T	.	.	0.178	0.38764	B	.;.	.;.	1.071701	0.14539	11.11	0.82033133285846671	0.13984	0.85784	0.44956	D	AEFDGBI	0.352222	0.44506	N	-0.504089477932824	0.21947	1.168471	-0.517161758818823	0.21687	1.174378	0.998279556249972	0.36679	0.651	0.46895	0	0.694456	0.67091	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	4.76	3.81	0.43020	3.146000	0.50327	0.896000	0.22511	-0.257000	0.07002	0.187000	0.24151	0.000000	0.08366	0.023000	0.12082	0.0:0.8448:0.1552:0.0	14.713	0.68864	.	.	.;Ribonuclease II/R|Ribonuclease II/R	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2075.98	101	chr20	63564308	.	C	T	2075.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.525e+00;DP=1777;ExcessHet=0.0000;FS=3.780;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.48;ReadPosRankSum=0.944;SOR=1.005	GT:AD:DP:GQ:PL	0/1:71,83:154:99:2090,0,1794	20	0	1	0
chr20	63569517	63569517	C	T	exonic	HELZ2	.	nonsynonymous SNV	HELZ2:NM_001037335:exon5:c.G719A:p.R240H,	.	.	431	1085	5	1	0	7	0.00321543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.001	B	0.001	B	0.188	N	1.000	N	0.41	N	-1.19	T	-0.982	T	0.198	T	0.071	0.556	7.005	-5.22	-0.639	-3.142	1.21	0.145	0.0329718144125	7.7e-05	.	0.0002	0	0	0	0	0.0001	0.0016	0.0006	9.7e-05	15	154602	rs377344395	9.81e-05	9.92e-05	7.643e-05	0.0001	0.0007	8.468e-05	7.944e-05	0.0004	0.0004	2.992e-05	0	0	7.597e-05	0	0.0007	7.383e-05	0.0001	0.0005	6.567e-05	6.566e-05	3.852e-05	9.409e-05	0.0008	3.515e-05	2.615e-05	0.0003	0.0002	2.411e-05	0	0	0	0	0	0	7.348e-05	0	0.0008	0.536	0.06891	T	0.583	0.08419	T	0.001	0.07471	B	0.001	0.04355	B	0.187573	0.03227	N	1.629700	1	0.08975	N	0.55	0.14455	N	-1.19	0.78427	T	-0.25	0.11008	N	0.037	0.01135	-0.9820	0.34538	T	0.198	0.55343	T	10	0.038633466	0.02295	T	0.032972	0.54648	D	0.145	0.38592	.	.	0.158396225186	0.15383	0.17771803658209204	0.17690	0.21845120166	0.24383	0.410784900188	0.26565	T	0.018923	0.15168	T	-0.491822	0.00635	T	-0.585664	0.14043	T	0.0264737487001913	0.01470	T	0.550545	0.18982	T	0.026835587	0.01791	0.021635188	0.00208	0.026835587	0.01791	0.021635188	0.00208	-3.506	0.16515	T	.	.	0.073	0.04847	B	.	.	0.180578	0.05683	2.129	0.96469651092321695	0.29932	0.05533	0.11426	N	AEFDGBCI	0.054236	0.09844	N	-1.31014601047634	0.03558	0.1591608	-1.39765545211521	0.03277	0.1525315	0.999889797917292	0.44867	0.700653	0.57754	0	0.694456	0.67091	0	0.717052	0.78885	0	0.683762	0.67416	0	.	.	4.5	-5.22	0.02592	-3.590000	0.00471	-3.694000	0.02600	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.2476:0.3675:0.1537:0.2313	1.21	0.01787	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1429.98	84	chr20	63569517	.	C	T	1429.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.685;DP=1046;ExcessHet=0.0000;FS=1.490;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=1.15;SOR=0.915	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	20	0	1	0
chr20	63680717	63680717	C	G	exonic	RTEL1	.	nonsynonymous SNV	RTEL1:NM_001283010:exon13:c.C520G:p.Q174E	Dyskeratosis congenita, autosomal dominant 4, Autosomal recessive, Autosomal dominant;Dyskeratosis congenita, autosomal recessive 5, Autosomal recessive, Autosomal dominant;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, Autosomal dominant	.	416	1102	4	0	0	4	0.00181159	0.8031	0.558	573630	Dyskeratosis_congenita|Dyskeratosis_congenita,_autosomal_recessive_5|Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3	MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775|MONDO:MONDO:0014076,MedGen:C3554656,OMIM:615190|MONDO:MONDO:0014613,MedGen:C4225346,OMIM:616373,Orphanet:2032	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.19	T	0.986	D	0.867	P	0.000	D	1.000	D	1.995	M	-1.52	D	0.249	D	0.639	D	0.518	3.083	16.30	4.82	2.199	6.658	17.501	0.426	0.211824668098	0.0005	0.000599042	0.0006	0	0.0003	0	0	0.0006	0.0022	0.0015	0.0006015	93	154602	rs150285674	0.0008	0.0008	0.0007	0.0008	0.0013	0.0007	0.0007	0.0011	0.0011	0.0001	0.0002	3.827e-05	0	7.598e-05	0.0003	0.0009	0.0006	0.0013	0.0004	0.0004	0.0004	0.0004	0.0008	0.0003	0.0003	0.0006	0.0006	0.0001	0	6.533e-05	0	0	9.409e-05	0	0.0008	0	0.0008	0.091	0.31834	T	0.212	0.32461	T	0.112	0.61523	B	0.082	0.61644	B	0.000003	0.62929	D	0.062767	0.999951	0.52396	D	2.49	0.72568	M	-1.55	0.81815	D	-1.78	0.42001	N	0.688	0.73735	0.249	0.86736	D	0.639	0.87380	D	10	0.18315339	0.33629	T	0.211825	0.87324	D	0.426	0.73372	.	.	0.74197969746	0.73966	0.7743501428180213	0.77385	.	.	0.497934222221	0.38540	T	0.140774	0.47548	T	-0.208259	0.19625	T	-0.096553	0.63663	T	0.115547396242619	0.13990	T	0.935806	0.76011	D	0.20867115	0.43111	0.22569644	0.47522	0.23128064	0.45897	0.2372059	0.49011	-13.217	0.90584	D	0.2944103503992749	0.39128	0.082	0.10256	B	.;.;.;.	.;.;.;.	3.911785	0.57055	23.8	0.98463541449045411	0.41768	0.97377	0.74364	D	AEFGBCI	0.752865	0.69323	D	0.326175396475181	0.57494	3.917089	0.398752396403318	0.61487	4.349578	0.999980381730676	0.51787	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.82	4.82	0.61641	6.831000	0.75116	5.873000	0.50556	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.777000	0.36790	0.0:1.0:0.0:0.0	17.501	0.87628	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1203.98	33	chr20	63680717	.	C	G	1203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.440e+00;DP=776;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.33;ReadPosRankSum=-5.600e-02;SOR=0.743	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	20	0	1	0
chr20	63692973	63692973	G	A	exonic	RTEL1	.	nonsynonymous SNV	RTEL1:NM_001283010:exon28:c.G2152A:p.E718K	Dyskeratosis congenita, autosomal dominant 4, Autosomal recessive, Autosomal dominant;Dyskeratosis congenita, autosomal recessive 5, Autosomal recessive, Autosomal dominant;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	2140099	Dyskeratosis_congenita,_autosomal_recessive_5|Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3	MONDO:MONDO:0014076,MedGen:C3554656,OMIM:615190|MONDO:MONDO:0014613,MedGen:C4225346,OMIM:616373,Orphanet:2032	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	0.992	D	0.892	P	0.000	N	0.900	N	2.095	M	2.91	T	-1.064	T	0.055	T	0.469	3.893	19.79	1.62	0.148	1.297	9.020	0.118	0.0559215773693	.	.	.	.	.	.	.	.	.	.	.	.	.	rs906116592	4.109e-06	4.104e-06	2.725e-06	5.506e-06	0.0003	1.48e-06	9.7e-07	6.094e-05	2.522e-05	2.987e-05	0	0	0	0	0.0003	2.698e-06	0	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	4.824e-05	2.18e-06	8.2e-07	7.99e-06	2.99e-06	4.824e-05	0	0	0	0	0	0	0	0	0	0.164	0.23360	T	0.261	0.26631	T	0.444	0.52359	B	0.284	0.58220	B	0.000344	0.45440	N	0.222028	0.89961	0.36140	D	1.915	0.51223	L	2.91	0.10008	T	-2.39	0.52612	N	0.301	0.41557	-1.0637	0.10855	T	0.055	0.23072	T	10	0.26438868	0.43925	T	0.055922	0.66415	D	0.118	0.32913	0.441	0.49648	0.331200485591	0.32731	0.436217374456984	0.43538	.	.	0.474092364311	0.35243	T	0.237151	0.60478	T	-0.125603	0.32210	T	-0.418197	0.31281	T	0.90171754360199	0.55450	D	0.823318	0.48487	T	0.14070284	0.32452	0.1273824	0.30665	0.14070284	0.32452	0.1273824	0.30664	-12.015	0.84925	D	.	.	0.083	0.15520	B	.;.;.;.	.;.;.;.	2.996601	0.40022	21.1	0.99865770577726365	0.94366	0.50173	0.28602	D	AEFDGBCI	0.097320	0.19631	N	0.0150231320504382	0.42538	2.564934	-0.0605198213616557	0.37038	2.163332	0.999989678523307	0.51787	0.634777	0.41761	0	0.643519	0.57511	0	0.606735	0.37207	0	0.645665	0.59343	0	.	.	4.83	1.62	0.22817	2.544000	0.45420	3.579000	0.39150	0.660000	0.55035	0.990000	0.36992	1.000000	0.68203	0.921000	0.45669	0.0811:0.428:0.4909:0.0	9.020	0.35353	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1290.98	115	chr20	63692973	.	G	A	1290.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.716;DP=1003;ExcessHet=0.0000;FS=1.535;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=-6.240e-01;SOR=0.913	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr20	63693266	63693266	C	T	exonic	RTEL1	.	nonsynonymous SNV	RTEL1:NM_001283010:exon29:c.C2306T:p.P769L	Dyskeratosis congenita, autosomal dominant 4, Autosomal recessive, Autosomal dominant;Dyskeratosis congenita, autosomal recessive 5, Autosomal recessive, Autosomal dominant;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, Autosomal dominant	.	435	1059	27	1	0	29	0.0135072	.	.	430403	not_specified|not_provided|RTEL1-related_disorder|Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3|Dyskeratosis_congenita,_autosomal_recessive_5|Dyskeratosis_congenita	MedGen:CN169374|MedGen:C3661900|.|MONDO:MONDO:0014613,MedGen:C4225346,OMIM:616373,Orphanet:2032|MONDO:MONDO:0014076,MedGen:C3554656,OMIM:615190|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.18	T	0.119	B	0.016	B	0.048	N	1.000	N	-0.55	N	1.01	T	-0.815	T	0.210	T	0.209	0.674	7.606	2.6	1.021	-0.090	2.886	0.168	0.139368554332	0.0005	0.00159744	0.0015	0.0012	0.0013	0	0.0005	0.0009	0.0011	0.0058	0.0013648	211	154602	rs143967591	0.0011	0.0011	0.0010	0.0012	0.0096	0.0011	0.0010	0.0075	0.0068	0.0006	0.0012	3.833e-05	0.0003	0.0006	0.0096	0.0008	0.0016	0.0058	0.0009	0.0009	0.0010	0.0009	0.0039	0.0008	0.0008	0.0026	0.0021	0.0011	0	0.0010	0.0003	0.0004	0.0006	0.0034	0.0007	0.0024	0.0039	0.467	0.08559	T	0.529	0.11335	T	0.0	0.02946	B	0.0	0.04355	B	0.047948	0.01979	N	2.248960	1	0.08975	N	-0.205	0.04094	N	-1.43	0.80730	T	-0.83	0.22727	N	0.116	0.15609	-0.8145	0.54275	T	0.210	0.56946	T	10	0.00494954	0.00106	T	0.139369	0.82185	D	0.168	0.42943	.	.	0.362933182269	0.35899	0.2539474739144245	0.25308	.	.	0.239184051752	0.02718	T	0.10823	0.42109	T	-0.465828	0.00903	T	-0.439156	0.28903	T	0.0011363816984353	0.00011	T	0.686731	0.29555	T	0.02644599	0.01702	0.022959659	0.00313	0.029458098	0.02445	0.0238321	0.00396	-4.261	0.31538	T	.	.	0.074	0.06341	B	.;.;.;.	.;.;.;.	0.401937	0.07734	4.412	0.81152595751285961	0.13545	0.02960	0.07796	N	AEFDGBCI	0.046712	0.07786	N	-1.0342140388468	0.07900	0.3686039	-0.98034880072449	0.10227	0.5137404	0.995874279844285	0.34380	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.592323	0.36904	0	.	.	4.82	2.6	0.30173	-0.461000	0.06789	-0.549000	0.08539	-0.989000	0.01856	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.4287:0.2354:0.3359	2.886	0.05314	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	2655.11	38	chr20	63693266	.	C	T	2655.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.33;DP=932;ExcessHet=0.1072;FS=1.818;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=-1.414e+00;SOR=0.849	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	19	0	2	0
chr20	63694833	63694833	C	T	exonic	RTEL1	.	nonsynonymous SNV	RTEL1:NM_001283010:exon31:c.C2533T:p.R845C	Dyskeratosis congenita, autosomal dominant 4, Autosomal recessive, Autosomal dominant;Dyskeratosis congenita, autosomal recessive 5, Autosomal recessive, Autosomal dominant;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, Autosomal dominant	.	418	1102	2	0	0	2	0.000906618	.	.	1304827	not_provided|Dyskeratosis_congenita,_autosomal_recessive_5|Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3	MedGen:C3661900|MONDO:MONDO:0014076,MedGen:C3554656,OMIM:615190|MONDO:MONDO:0014613,MedGen:C4225346,OMIM:616373,Orphanet:2032	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.938	D	0.000	D	1.000	N	1.7	L	0.65	T	-0.230	T	0.602	D	0.435	2.496	14.31	3.71	2.169	1.076	11.070	0.319	0.587614460235	.	.	1.695e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs762640318	3.219e-05	3.215e-05	2.998e-05	3.441e-05	0.0002	2.48e-05	2.223e-05	0.0001	9.451e-05	2.987e-05	2.237e-05	0	7.557e-05	0	0	2.249e-05	1.657e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.005	0.79402	D	0.998	0.77913	D	0.794	0.63802	P	0.000283	0.46274	D	0.178545	1	0.08975	N	1.7	0.43825	L	-1.73	0.83327	D	-3.48	0.67941	D	0.382	0.47301	-0.2297	0.76895	T	0.602	0.85825	D	10	0.49431804	0.61176	T	0.587614	0.96326	D	0.319	0.64112	0.534	0.64293	0.751768288679	0.74952	0.47267171261239194	0.47186	.	.	0.432527780533	0.29554	T	0.585023	0.86469	D	-0.101321	0.36206	T	-0.180663	0.56461	T	0.692274264388132	0.40354	D	0.784422	0.42944	T	0.34986833	0.57057	0.189104	0.42238	0.34986833	0.57057	0.189104	0.42237	-10.625	0.77562	D	.	.	0.115	0.32685	B	.;.;.;.	.;.;.;.	4.164576	0.62574	24.5	0.99814786909164643	0.89797	0.07526	0.13539	N	AEFDGBCI	0.129746	0.24803	N	-0.0349011971585491	0.40280	2.389353	-0.217371332704798	0.30912	1.744714	0.99999569759471	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.606735	0.37207	0	0.592323	0.36904	0	.	.	4.76	3.71	0.41733	0.764000	0.26197	3.971000	0.40825	0.596000	0.33519	0.000000	0.06391	0.406000	0.24735	0.152000	0.20376	0.2449:0.7551:0.0:0.0	11.070	0.47218	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2564.98	39	chr20	63694833	.	C	T	2564.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.94;DP=1071;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=-2.470e-01;SOR=0.700	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1160	20	0	1	0
chr20	63738330	63738330	C	T	exonic	LIME1	.	nonsynonymous SNV	LIME1:NM_017806:exon5:c.C416T:p.A139V,	.	.	428	1091	3	0	0	3	0.001373	.	.	3276905	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	.	.	1.000	N	-0.345	N	1.04	T	-0.987	T	0.034	T	0.035	0.382	6.072	-4.0	-1.201	-0.449	8.530	0.012	0.00952608720948	0.0003	0.000199681	0.0004	0	0	0.0010	0	0.0009	0	0	0.0001746	27	154602	rs143622346	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	9.303e-05	2.643e-05	0	2.712e-05	9.356e-05	0.0004	0.0003	0.0003	0	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0002	0.0002	9.618e-05	0	0.0003	0	0	0	0	0.0004	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.04	0.40218	T	-0.11	0.08653	N	0.051	0.02272	-0.9872	0.33298	T	0.034	0.14726	T	9	0.008592039	0.00195	T	0.009526	0.24947	T	0.012	0.01476	.	.	0.101711395817	0.09552	0.03961686999094114	0.03907	0.379646040224	0.39352	0.556984305382	0.46842	T	0.013414	0.11608	T	-0.61372	0.00120	T	-0.793401	0.02072	T	0.0239622077529509	0.01140	T	0.40206	0.10263	T	0.019155324	0.00441	0.03755829	0.03434	0.019155324	0.00441	0.03755829	0.03434	-4.954	0.36336	T	.	.	0.094	0.14385	B	.;.	.;.	-0.361748	0.02359	0.257	0.82094788473890268	0.14016	0.70037	0.34427	D	ALL	0.027111	0.02156	N	-1.7715623893433	0.00618	0.0266631	-1.79471126325982	0.00776	0.03462536	0.999999999999906	0.74766	0.65757	0.49021	0	0.52208	0.09955	0	0.619478	0.44681	0	0.664235	0.64389	0	.	.	3.61	-4.0	0.03787	-0.042000	0.12016	-1.941000	0.04461	-0.525000	0.04972	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1156:0.7613:0.0:0.1231	8.530	0.32490	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1413.98	47	chr20	63738330	.	C	T	1413.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.170e-01;DP=929;ExcessHet=0.0000;FS=0.836;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.07;ReadPosRankSum=2.14;SOR=0.662	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1101	20	0	1	0
chr20	63862031	63862031	C	T	exonic	ABHD16B	.	nonsynonymous SNV	ABHD16B:NM_080622:exon1:c.C491T:p.P164L,	.	.	438	1067	16	1	0	18	0.00836431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.153	B	0.019	B	0.001	U	1.000	N	1.59	L	0.79	T	-1.057	T	0.050	T	0.135	1.212	9.921	2.61	0.366	1.187	7.309	0.023	.	0.0078	0.00758786	0.0035	0.0259	0.0037	0	0	0.0021	0.0013	0.0005	0.0033053	511	154602	rs6011194	0.0018	0.0018	0.0018	0.0018	0.0233	0.0017	0.0017	0.0213	0.0207	0.0226	0.0049	0.0105	2.52e-05	2.032e-05	0.0233	0.0008	0.0043	0.0005	0.0078	0.0078	0.0080	0.0075	0.0225	0.0074	0.0072	0.0213	0.0208	0.0225	0	0.0064	0.0098	0	0	0.0170	0.0012	0.0137	0.0002	0.372	0.11478	T	0.311	0.19660	T	0.153	0.28093	B	0.019	0.18783	B	0.000807	0.41658	U	0.157358	0.999981	0.18198	N	1.355	0.33814	L	0.79	0.49068	T	-2.4	0.52776	N	0.193	0.21188	-1.0573	0.12439	T	0.050	0.21456	T	10	0.00417161	0.00083	T	.	.	.	0.023	0.04649	.	.	0.246773566709	0.24272	0.5818548222843871	0.58114	0.502647748094	0.48622	0.412611842155	0.26819	T	0.003824	0.03232	T	-0.565003	0.00237	T	-0.56611	0.15808	T	0.00629099621145202	0.00070	T	0.579042	0.20891	T	0.050344914	0.09082	0.05161922	0.08343	0.050344914	0.09081	0.05161922	0.08342	-5.059	0.37473	T	.	.	0.075	0.05535	B	.	.	1.490981	0.19177	14.13	0.98854030722964048	0.47339	0.13441	0.17858	N	AEFDBHCI	0.050772	0.08907	N	-0.709713287512005	0.15747	0.7963649	-0.744887141531301	0.15848	0.8355254	0.999999471682031	0.74766	0.700653	0.57754	0	0.577304	0.33150	0	0.717052	0.78885	0	0.635551	0.53088	0	.	.	4.59	2.61	0.30255	1.292000	0.32948	3.258000	0.37072	0.545000	0.25583	0.008000	0.17931	0.997000	0.33255	0.096000	0.18090	0.0:0.7894:0.0:0.2106	7.309	0.25639	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1258.98	58	chr20	63862031	.	C	T	1258.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=947;ExcessHet=0.0000;FS=2.632;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=1.11;SOR=0.460	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	20	0	1	0
chr20	63862888	63862888	G	C	exonic	ABHD16B	.	nonsynonymous SNV	ABHD16B:NM_080622:exon1:c.G1348C:p.V450L,	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.004	B	0.004	B	0.004	N	0.966	N	0.665	N	0.96	T	-1.042	T	0.067	T	0.166	0.428	6.325	3.24	0.544	0.886	9.613	0.010	0.00624737022938	.	.	.	.	.	.	.	.	.	.	.	.	.	rs150926976	2.887e-06	2.736e-06	4.274e-06	1.463e-06	3.713e-06	6.8e-07	4.6e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.713e-06	0	0	6.565e-06	6.561e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.125	0.27310	T	0.774	0.04416	T	0.004	0.12183	B	0.004	0.10090	B	0.004194	0.34013	N	0.231800	0.965623	0.25930	N	1.74	0.45129	L	0.96	0.42888	T	-0.49	0.15578	N	0.114	0.10198	-1.0423	0.16621	T	0.067	0.27674	T	10	0.06943959	0.09965	T	0.006247	0.16406	T	0.010	0.01040	0.308	0.27967	0.413241256734	0.40943	0.2846512484145064	0.28378	0.486827894607	0.47528	0.480388104916	0.36111	T	0.002565	0.01954	T	-0.226752	0.17080	T	-0.557227	0.16638	T	0.0603482238948345	0.07224	T	0.556944	0.19352	T	0.043830838	0.06901	0.05737931	0.10420	0.043830838	0.06901	0.05737931	0.10419	-2.719	0.07464	T	.	.	0.152	0.33550	B	.	.	1.200838	0.15930	12.20	0.85139131371083843	0.15709	0.79921	0.39701	D	AEFDBCI	0.155240	0.28041	N	-0.38008205629697	0.26180	1.426833	-0.230293409460771	0.30457	1.714995	0.999990554768693	0.74766	0.700653	0.57754	0	0.71359	0.82159	0	0.717052	0.78885	0	0.491896	0.07777	0	.	.	5.29	3.24	0.36257	0.103000	0.15128	2.187000	0.31177	0.676000	0.76740	0.080000	0.22340	0.992000	0.31684	0.890000	0.42831	0.0:0.1608:0.6836:0.1556	9.613	0.38841	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	363.98	52	chr20	63862888	.	G	C	363.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.000e-01;DP=869;ExcessHet=0.0000;FS=1.187;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.87;ReadPosRankSum=-7.430e-01;SOR=0.914	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1155	20	0	1	0
chr20	63873800	63873800	G	A	exonic	TPD52L2	.	nonsynonymous SNV	TPD52L2:NM_001243891:exon3:c.G223A:p.V75M	.	.	437	1059	24	2	0	28	0.0130475	.	.	717150	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.14	T	0.952	P	0.527	P	0.000	N	1.000	D	2.19	M	1.62	T	-1.061	T	0.093	T	0.332	0.828	8.338	1.56	0.079	3.970	9.849	0.163	.	0.0007	0.00459265	0.0072	0.0002	0.0024	0.0007	0	0.0016	0.0092	0.0378	0.0034993	541	154602	rs146221163	0.0021	0.0022	0.0014	0.0029	0.0269	0.0021	0.0021	0.0259	0.0255	0.0002	0.0011	0.0007	0.0001	3.837e-05	0.0076	0.0006	0.0021	0.0269	0.0016	0.0016	0.0011	0.0020	0.0280	0.0014	0.0013	0.0242	0.0227	0.0002	0	0.0018	0.0006	0	0	0	0.0009	0.0028	0.0280	0.117	0.29420	T	0.116	0.50514	T	0.538	0.37867	P	0.409	0.44752	B	0.000017	0.62929	N	0.067765	0.999073	0.50595	D	1.745	0.45235	L	1.62	0.28189	T	-2.15	0.55983	N	0.326	0.36674	-1.0613	0.11434	T	0.093	0.35363	T	10	0.005977899	0.00134	T	.	.	.	0.163	0.42028	.	.	0.110392049598	0.10638	0.525710121982997	0.52495	0.192320976914	0.21557	0.372602283955	0.21205	T	0.097271	0.39992	T	-0.466617	0.00893	T	-0.423442	0.30682	T	0.0281337036299695	0.01708	T	0.876112	0.60266	D	0.050308015	0.09069	0.11707527	0.28264	0.050308015	0.09068	0.11707527	0.28263	-4.791	0.58017	T	.	.	0.117	0.39425	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.643460	0.34402	19.62	0.97310466524508998	0.33322	0.77468	0.38093	D	ALL	0.469324	0.51575	N	-0.35025809430402	0.27263	1.494361	-0.417033629949026	0.24497	1.341769	0.999999988724354	0.74766	0.730579	0.87903	0	0.702456	0.74545	0	0.702456	0.68683	0	0.648885	0.59868	0	.	.	5.65	1.56	0.22423	4.167000	0.57999	2.297000	0.31994	-0.202000	0.08738	1.000000	0.71638	0.993000	0.31925	0.816000	0.38450	0.2839:0.0:0.7161:0.0	9.849	0.40212	.	.	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	445.98	33	chr20	63873800	.	G	A	445.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.600;DP=746;ExcessHet=0.0000;FS=1.175;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.74;ReadPosRankSum=0.828;SOR=0.473	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1319	20	0	1	0
chr20	63963876	63963876	C	G	exonic	ZNF512B	.	nonsynonymous SNV	ZNF512B:NM_020713:exon9:c.G1518C:p.E506D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.164	B	0.125	B	0.000	D	0.984	D	0.93	L	1.82	T	-1.055	T	0.038	T	0.282	1.355	10.45	1.9	0.044	1.203	6.928	0.049	0.0237495823101	.	.	.	.	.	.	.	.	.	.	.	.	.	rs920512882	2.055e-06	2.052e-06	0	4.13e-06	0.0003	5.5e-07	1.5e-07	6.092e-05	2.521e-05	2.987e-05	0	0	0	0	0.0003	0	0	0	1.97e-05	1.97e-05	2.568e-05	1.344e-05	4.823e-05	5.24e-06	2.45e-06	7.99e-06	2.99e-06	4.823e-05	0	0	0	0	0	0	1.47e-05	0	0	0.287	0.15149	T	0.49	0.11551	T	0.164	0.28467	B	0.125	0.32635	B	0.000000	0.84330	D	0.000000	0.983933	0.40078	D	2.24	0.63355	M	1.82	0.25018	T	-0.4	0.13805	N	0.526	0.55540	-1.0546	0.13145	T	0.038	0.16419	T	10	0.18028861	0.33204	T	0.02375	0.46723	T	0.049	0.13647	0.336	0.32491	0.0675242888579	0.06100	0.22919627037421106	0.22834	.	.	0.706514000893	0.68088	T	0.015039	0.12694	T	-0.179803	0.23763	T	-0.496051	0.22757	T	0.332871526479721	0.26340	T	0.89551	0.63622	D	0.057709802	0.11518	0.065823816	0.13397	0.057709802	0.11517	0.065823816	0.13396	-7.73	0.59216	D	.	.	0.207	0.43338	B	.	.	1.511259	0.19414	14.25	0.99297750084365322	0.58505	0.92897	0.56815	D	AEFDGBCI	0.314439	0.41930	N	-0.570114963657062	0.19857	1.042554	-0.505874605722486	0.21993	1.192418	0.967117173931866	0.28953	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.62	1.9	0.24770	1.246000	0.32405	0.013000	0.13471	-0.242000	0.07441	1.000000	0.71638	0.916000	0.28226	0.051000	0.15275	0.0:0.4567:0.0:0.5433	6.928	0.23608	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1143.98	91	chr20	63963876	.	C	G	1143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=856;ExcessHet=0.0000;FS=7.097;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.57;ReadPosRankSum=-1.551e+00;SOR=1.495	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	20	0	1	0
chr20	64032910	64032910	G	A	exonic	PRPF6	.	nonsynonymous SNV	PRPF6:NM_012469:exon21:c.G2743A:p.V915M,	Retinitis pigmentosa 60, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	346144	Retinitis_pigmentosa|not_provided	Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.936	P	0.388	B	0.000	D	1.000	D	2.81	M	-1.35	T	0.140	D	0.512	D	0.256	3.799	19.29	4.01	1.212	6.291	12.877	0.603	0.149565306082	0.0008	0.000998403	0.0006	0.0024	0.0007	0	0	0.0005	0.0011	0	0.0005498	85	154602	rs139778757	0.0004	0.0004	0.0004	0.0004	0.0033	0.0004	0.0004	0.0022	0.0020	0.0027	0.0012	0.0027	0	1.902e-05	0.0033	0.0003	0.0011	4.637e-05	0.0010	0.0010	0.0011	0.0009	0.0021	0.0009	0.0008	0.0017	0.0016	0.0021	0	0.0016	0.0023	0	0	0.0034	0.0004	0.0024	0	0.042	0.41637	D	0.019	0.59159	D	0.936	0.52359	P	0.388	0.44086	B	0.000211	0.47681	D	0.183154	1	0.81001	D	2.965	0.85198	M	-1.37	0.80214	T	-2.05	0.47008	N	0.215	0.24010	0.140	0.84880	D	0.512	0.81676	D	10	0.017671555	0.00379	T	0.149565	0.83135	D	0.603	0.84345	.	.	0.85537823315	0.85398	0.4355634981985972	0.43473	0.497958001545	0.48279	0.470426440239	0.34739	T	0.394281	0.75347	T	-0.280921	0.10569	T	-0.182158	0.56323	T	0.055404697427955	0.06424	T	0.912209	0.68770	D	0.3334039	0.55747	0.1660991	0.38391	0.3334039	0.55748	0.1660991	0.38390	-8.487	0.64343	D	0.4158587710695717	0.50540	0.200	0.42419	B	.	.	4.520482	0.70871	25.6	0.99743258093798992	0.83703	0.92688	0.56304	D	AEFGBHCI	0.815305	0.73731	D	0.467074259177552	0.65178	4.789992	0.454546916251075	0.65010	4.769858	0.99999999999878	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.98	4.01	0.45821	6.407000	0.73202	9.505000	0.80913	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.899000	0.43558	0.0819:0.0:0.9181:0.0	12.877	0.57384	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	612.98	38	chr20	64032910	.	G	A	612.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.36;DP=785;ExcessHet=0.0000;FS=2.243;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=0.944;SOR=1.030	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1053	20	0	1	0
chr20	64068073	64068073	C	T	exonic	TCEA2	.	nonsynonymous SNV	TCEA2:NM_003195:exon4:c.C268T:p.R90W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.023	B	0.003	B	0.237	N	0.994	N	0.345	N	.	.	-1.052	T	0.061	T	0.341	2.898	15.65	3.51	2.257	0.553	8.66	0.072	0.0165187535976	.	.	4.433e-05	0	0	0.0001	0	6.366e-05	0	0	3.23e-05	5	154602	rs767883408	2.888e-05	3.215e-05	3.009e-05	2.767e-05	0.0004	2.163e-05	1.918e-05	6.612e-05	2.677e-05	0	4.559e-05	0	5.089e-05	0	0.0004	2.705e-05	9.986e-05	0	3.943e-05	3.94e-05	3.855e-05	4.035e-05	6.544e-05	1.716e-05	1.13e-05	1.972e-05	1.125e-05	2.413e-05	0	6.544e-05	0	0	0	0	5.881e-05	0	0	0.003	0.78490	D	0.005	0.79402	D	0.001	0.18885	B	0.002	0.08700	B	0.236521	0.15806	N	0.610508	0.996265	0.23642	N	0	0.06538	N	.	.	.	-2.91	0.69118	D	0.236	0.27316	-1.0525	0.13709	T	0.061	0.25383	T	9	0.078133136	0.12416	T	0.016519	0.37815	T	0.072	0.21020	.	.	0.354822389136	0.35094	0.2010188334595265	0.20018	0.669719564107	0.59375	0.348630309105	0.17720	T	0.21187	0.57276	T	-0.26262	0.12595	T	-0.38931	0.34632	T	0.136661472500068	0.15984	T	0.880112	0.61581	D	0.10773597	0.25475	0.11252127	0.27151	0.10773597	0.25475	0.11252127	0.27150	-9.414	0.70323	D	.	.	0.124	0.28693	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.924832	0.57328	23.8	0.99760633964888379	0.85011	0.18502	0.20287	N	AEFDBHI	0.331567	0.43125	N	-0.467374738005555	0.23155	1.241465	-0.360622280930225	0.26182	1.444515	0.999971360903183	0.50053	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.645665	0.59343	0	.	.	3.51	3.51	0.39297	-0.893000	0.04234	4.361000	0.43118	0.596000	0.33519	0.000000	0.06391	1.000000	0.68203	0.842000	0.39752	0.2883:0.7117:0.0:0.0	8.66	0.33248	.	.	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	848.98	36	chr20	64068073	.	C	T	848.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.352e+00;DP=757;ExcessHet=0.0000;FS=0.879;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.17;ReadPosRankSum=1.84;SOR=0.883	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1110	20	0	1	0
chr20	64083965	64083965	T	G	exonic	LKAAEAR1	.	nonsynonymous SNV	LKAAEAR1:NM_001007125:exon1:c.A255C:p.E85D	.	.	413	1106	3	0	0	3	0.0013544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.998	D	0.878	P	0.001	N	0.999	N	1.32	L	0.76	T	-1.067	T	0.062	T	0.427	1.958	12.50	2.31	0.697	0.356	6.776	0.129	.	0.0008	0.00399361	0.0034	0.0227	0.0197	0	0	0.0057	0.0405	0.0002	0.000815	126	154602	rs77021907	0.0007	0.0007	0.0007	0.0007	0.0124	0.0007	0.0006	0.0113	0.0108	0.0124	0.0025	0.0027	0	0	0.0047	0.0003	0.0020	4.168e-05	0.0043	0.0043	0.0044	0.0041	0.0131	0.0040	0.0039	0.0122	0.0119	0.0131	0	0.0033	0.0037	0	0	0.0034	0.0004	0.0038	0	0.183	0.21718	T	0.094	0.39645	T	0.998	0.73220	D	0.878	0.62312	P	0.001456	0.38980	N	0.000000	1	0.21827	N	1.59	0.40313	L	0.72	0.50976	T	-1.73	0.41046	N	0.112	0.09914	-1.0672	0.10039	T	0.062	0.25672	T	10	0.0038745105	0.00073	T	.	.	.	0.129	0.35316	0.18	0.08751	0.0762999501168	0.06990	0.0213068750264576	0.02083	1.10714713315	0.77929	.	.	.	0.024951	0.18750	T	-0.480097	0.00738	T	-0.452014	0.27475	T	0.0086370808882041	0.00106	T	0.474053	0.14146	T	0.06983088	0.15331	0.052152254	0.08536	0.06983088	0.15331	0.052152254	0.08535	-3.526	0.24206	T	.	.	0.168	0.36986	B	.;.	.;.	1.684112	0.21463	15.21	0.9903926285363891	0.50984	0.06159	0.12141	N	AEFDGBCI	0.038182	0.05365	N	-0.457760157194188	0.23478	1.261072	-0.639583194803592	0.18479	0.9873925	0.999999999362613	0.74766	0.56387	0.32371	0	0.491552	0.07993	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	3.26	2.31	0.27816	0.024000	0.13447	-0.020000	0.12938	-0.295000	0.06246	0.000000	0.06391	0.002000	0.18203	0.003000	0.05239	0.0:0.8638:0.0:0.1362	6.776	0.22804	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	334.98	41	chr20	64083965	.	T	G	334.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.860e-01;DP=735;ExcessHet=0.0000;FS=1.263;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.17;ReadPosRankSum=-1.230e+00;SOR=0.387	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1059	20	0	1	0
chr20	64098130	64098130	A	G	exonic	OPRL1	.	nonsynonymous SNV	OPRL1:NM_001318854:exon2:c.A547G:p.M183V	.	.	.	.	.	.	.	.	.	.	.	2468683	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.704	P	0.388	B	0.000	D	1.000	D	0.69	N	-0.56	T	-0.541	T	0.243	T	0.548	3.313	17.14	5.0	1.901	4.387	14.743	0.431	0.0553943948061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.267	0.22561	T	0.704	0.41950	P	0.388	0.44086	B	0.000037	0.55875	D	0.189457	0.999934	0.51612	D	0.635	0.15989	N	-0.56	0.71187	T	-2.68	0.57275	D	0.462	0.49874	-0.5411	0.67121	T	0.243	0.61189	T	10	0.43161133	0.57527	T	0.055394	0.66218	D	0.431	0.73735	0.738	0.87063	0.541252434104	0.53778	0.5470517964135434	0.54631	0.742833598024	0.63358	0.629772782326	0.57113	T	0.476208	0.80693	T	0.02123	0.54546	T	-0.207281	0.53955	T	0.909753203392029	0.56476	D	0.694731	0.30434	T	0.5823357	0.71735	0.60042703	0.76787	0.5823357	0.71737	0.60042703	0.76788	-7.994	0.61030	D	.	.	0.342	0.56038	A	.;.;.	.;.;.	3.314476	0.45555	22.1	0.99456199907536524	0.65530	0.98657	0.85222	D	AEFGBI	0.709467	0.66354	D	0.0616396270851751	0.44679	2.737625	0.182563758151264	0.48893	3.099181	0.991445297901129	0.32491	0.623552	0.39893	0	0.588066	0.40923	0	0.602189	0.34648	0	0.579976	0.35079	0	.	.	5.0	5.0	0.66209	3.675000	0.54340	9.247000	0.79462	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.967000	0.53440	1.0:0.0:0.0:0.0	14.743	0.69087	.	.	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1763.98	36	chr20	64098130	.	A	G	1763.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.108e+00;DP=898;ExcessHet=0.0000;FS=10.490;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.91;ReadPosRankSum=-7.460e-01;SOR=0.405	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr20	64208256	64208256	G	A	exonic	MYT1	.	nonsynonymous SNV	MYT1:NM_004535:exon7:c.G1060A:p.E354K,	.	.	408	1112	2	0	0	2	0.000898473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.028	B	0.017	B	0.027	N	1.000	D	1.5	L	4.45	T	-0.913	T	0.011	T	0.198	0.674	7.609	4.46	2.051	4.457	17.157	0.081	0.0327963943137	.	.	8.273e-06	0	0	0	0	1.505e-05	0	0	1.29e-05	2	154602	rs779840595	1.026e-05	1.094e-05	5.445e-06	1.513e-05	0.0002	6.16e-06	4.89e-06	3.85e-06	2.76e-06	0	0	0	2.519e-05	0	0.0002	8.093e-06	3.312e-05	2.319e-05	6.566e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.028	0.46129	D	0.054	0.47097	T	0.028	0.19712	B	0.017	0.18140	B	0.026876	0.25848	N	0.397297	0.864334	0.81001	D	0.805	0.20218	L	4.45	0.02121	T	-2.35	0.51968	N	0.084	0.07398	-0.9132	0.46454	T	0.011	0.03903	T	10	0.12550652	0.23851	T	0.032796	0.54525	D	0.081	0.23632	0.259	0.20159	0.082315109003	0.07666	.	.	0.467427056374	0.46123	0.460923165083	0.33437	T	0.286563	0.65935	T	-0.227638	0.16963	T	-0.564762	0.15932	T	0.458823356169379	0.31122	T	0.910209	0.68156	D	0.20642048	0.42816	0.18216315	0.41126	0.20642048	0.42816	0.18216315	0.41125	-11.035	0.81548	D	.	.	0.102	0.17869	B	.;.	.;.	3.261707	0.44608	22.0	0.94462858271204575	0.24903	0.90849	0.52377	D	AEFGBI	0.370306	0.45672	N	-0.212471947668025	0.32621	1.841704	-0.126528919279189	0.34324	1.973146	0.996150939703488	0.34559	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.46	4.46	0.53567	4.607000	0.60840	9.626000	0.81116	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.558000	0.30364	0.0:0.0:1.0:0.0	17.157	0.86674	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3469.98	67	chr20	64208256	.	G	A	3469.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.99;DP=1267;ExcessHet=0.0000;FS=3.158;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.64;ReadPosRankSum=-1.070e+00;SOR=0.883	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	20	0	1	0
chr20	64211316	64211316	C	T	exonic	MYT1	.	nonsynonymous SNV	MYT1:NM_004535:exon8:c.C1402T:p.H468Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	1.0	D	0.000	D	1.000	D	-0.755	N	0.81	T	-0.518	T	0.155	T	0.814	3.809	19.34	4.71	2.298	7.662	18.045	0.479	0.0892521268977	.	.	0.0002	0	0	0	0	0	0	0.0018	0.0002005	31	154602	rs556404142	8.485e-05	8.482e-05	5.991e-05	0.0001	0.0013	7.211e-05	6.798e-05	0.0011	0.0010	0	0	0	0	0	0	0	0.0002	0.0013	6.568e-06	6.566e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.016	0.53900	D	0.098	0.83351	T	0.999	0.90584	D	0.996	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.715	0.01801	N	0.81	0.55090	T	-5.25	0.84035	D	0.855	0.89242	-0.5183	0.67977	T	0.155	0.48670	T	10	0.21356282	0.37852	T	0.089252	0.75290	D	0.479	0.77012	0.462	0.53079	0.23798241625	0.23396	.	.	1.9046218175	0.92852	0.833943963051	0.87167	D	0.152315	0.96454	T	-0.165583	0.25905	T	-0.0296387	0.68392	D	0.227939558760363	0.21853	T	0.891911	0.88939	D	0.71498936	0.78883	0.5548905	0.74256	0.71498936	0.78884	0.5548905	0.74257	-14.428	0.94503	D	.	.	0.929	0.88480	P	.;.;.;.	.;.;.;.	5.076996	0.84710	28.4	0.9956207845734214	0.71831	0.98056	0.79226	D	AEFGBI	0.924658	0.90301	D	0.453256914264761	0.64388	4.692178	0.524209270899684	0.69622	5.386925	0.999999999996672	0.74766	0.646311	0.45356	0	0.563428	0.19063	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.71	4.71	0.59010	7.839000	0.85040	7.603000	0.61629	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.045	0.89254	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1543.98	37	chr20	64211316	.	C	T	1543.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.099e+00;DP=819;ExcessHet=0.0000;FS=1.502;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=-4.150e-01;SOR=0.918	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1216	20	0	1	0
chr21	5117173	5117173	G	A	exonic	GATD3A;GATD3B	.	nonsynonymous SNV	GATD3B:NM_001363760:exon6:c.C644T:p.T215M	.	.	595	926	0	1	0	2	0.00107875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.933e-05	3.318e-05	1.631e-05	2.207e-05	0.0001	6.66e-06	4.11e-06	1.796e-05	7.34e-06	0	0	0	6.095e-05	0	0	1.187e-05	0	0.0001	3.416e-05	5.336e-05	0	7.686e-05	5e-05	0	0	.	.	0	0	0	0	0	0	0	5e-05	0	0	.	.	.	0.07	0.54541	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.431	0.48134	.	.	.	.	.	.	.	0.39502946	0.55165	T	.	.	.	.	.	.	.	.	.	0.6173278640660086	0.61664	.	.	.	.	.	0.138465	0.47196	T	.	.	.	.	.	.	.	.	.	0.975436	0.92647	D	.	.	.	.	.	.	.	.	-8.837	0.69927	D	.	.	0.250	0.54302	B	.;.;.	.;.;.	1.890925	0.24020	16.24	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.758000	0.91339	9.388000	0.80560	0.325000	0.19437	1.000000	0.71638	1.000000	0.68203	0.022000	0.11911	.	.	.	.	.	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	142.57	22	chr21	5117173	.	G	A	142.57	.	AC=2;AF=0.056;AN=36;DP=277;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.9438;MLEAC=2;MLEAF=0.056;MQ=27.00;QD=23.76;SOR=3.912	GT:AD:DP:GQ:PL	0/0:16,0:16:48:0,48,551	17	1	0	3
chr21	5137388	5137388	C	G	exonic	LOC102724159;PWP2	.	nonsynonymous SNV	LOC102724159:NM_001368238:exon15:c.G1904C:p.R635P	.	.	496	1020	6	0	0	6	0.00293255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1449662252	0.0004	0.0004	0.0003	0.0004	0.0099	0.0004	0.0003	0.0078	0.0070	0.0007	0.0004	8.391e-05	0	1.941e-05	0.0099	0.0003	0.0010	0.0013	0.0005	0.0005	0.0006	0.0004	0.0005	0.0004	0.0004	0.0004	0.0003	9.186e-05	0.0238	7.251e-05	0	0	0	0.0290	0.0005	0	0.0005	.	.	.	0.118	0.36233	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461	0.49783	.	.	.	.	.	.	.	0.019749343	0.00445	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.928707	0.73770	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.42706	B	.	.	1.131865	0.15185	11.65	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.682000	0.37245	-0.674000	0.07920	0.284000	0.18682	1.000000	0.71638	0.000000	0.08366	0.582000	0.30943	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02632	4289.71	35	chr21	5137388	.	C	G	4289.71	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.12;DP=1041;ExcessHet=0.0000;FS=1.100;InbreedingCoeff=-0.0270;MLEAC=1;MLEAF=0.026;MQ=39.57;MQRankSum=-4.612e+00;QD=10.67;ReadPosRankSum=0.804;SOR=0.722	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1338	18	0	1	2
chr21	10578519	10578519	A	C	exonic	TPTE	.	nonsynonymous SNV	TPTE:NM_001290224:exon12:c.A527C:p.Q176P	.	.	514	1007	1	0	0	1	0.000496278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.23	B	0.158	B	0.000	U	1.000	N	0.955	L	-1.98	D	-0.562	T	0.388	T	0.116	0.825	8.322	2.07	1.204	2.887	8.089	0.247	0.000653193414504	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs571590085	3.632e-05	0.0001	3.955e-05	3.306e-05	0.0010	2.833e-05	2.569e-05	0.0003	0.0002	2.995e-05	0.0001	0.0003	0	0	0.0010	2.879e-05	4.986e-05	0	3.281e-05	0.0001	2.569e-05	4.025e-05	6.532e-05	1.26e-05	7.97e-06	1.171e-05	6.25e-06	0	0	6.532e-05	0.0003	0	0	0	4.41e-05	0	0	.	.	.	0.116	0.36497	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	0.58458	.	.	.	.	.	.	.	0.5808859	0.65843	D	.	.	.	.	.	.	.	.	.	0.9954557789636597	0.99542	.	.	.	.	.	0.48404	0.81152	T	.	.	.	.	.	.	.	.	.	0.872813	0.58002	D	.	.	.	.	.	.	.	.	-9.694	0.74407	D	.	.	0.637	0.74190	P	.;.;.;.	.;.;.;.	2.937792	0.39049	20.9	.	.	.	.	.	.	0.631716	0.61259	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.195000	0.58196	5.791000	0.49870	0.359000	0.20063	1.000000	0.71638	1.000000	0.68203	0.035000	0.13729	.	.	.	.	.	.;Dual specificity phosphatase, catalytic domain|Tensin-type phosphatase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	282.33	34	chr21	10578519	.	A	C	282.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.052e+00;DP=962;ExcessHet=0.0000;FS=0.708;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=53.87;MQRankSum=-2.562e+00;QD=1.21;ReadPosRankSum=1.01;SOR=0.805	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	19	0	1	1
chr21	10602079	10602079	G	A	exonic	TPTE	.	nonsynonymous SNV	TPTE:NM_001290224:exon17:c.G964A:p.D322N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.982	D	0.001	D	1.000	N	2.595	M	-1.86	D	-0.155	T	0.684	D	0.666	1.337	10.39	1.35	0.508	0.891	4.818	0.487	0.000596350037285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.31225	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.443	0.48963	.	.	.	.	.	.	.	0.27862158	0.45432	T	.	.	.	.	.	.	.	.	.	0.7661654524240642	0.76565	.	.	.	.	.	0.236856	0.60442	T	.	.	.	.	.	.	.	.	.	0.487251	0.14908	T	.	.	.	.	.	.	.	.	-4.805	0.35339	T	.	.	0.081	0.10883	B	.;.;.;.	.;.;.;.	1.650685	0.21061	15.03	.	.	.	.	.	.	0.033500	0.03990	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.309000	0.33145	0.968000	0.23038	-0.329000	0.05792	0.568000	0.27489	0.494000	0.25168	0.004000	0.06068	.	.	.	.	.	.;Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	911.98	33	chr21	10602079	.	G	A	911.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.322;DP=1216;ExcessHet=0.0000;FS=0.732;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.91;MQRankSum=0.129;QD=1.83;ReadPosRankSum=-4.430e-01;SOR=0.788	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1397	20	0	1	0
chr21	13610400	13610400	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A172G:p.R58G,	.	.	422	954	132	14	0	160	0.0773694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.462	P	0.152	B	.	.	1.000	N	1.895	L	1.03	T	-1.012	T	0.093	T	0.416	1.180	9.801	.	0.103	0.010	.	0.070	0.00147797239572	.	.	.	.	.	.	.	.	.	.	0.0066851	174	26028	rs200814491	2.492e-05	8.633e-05	1.821e-05	3.157e-05	3.472e-05	1.631e-05	1.393e-05	1.38e-05	1.117e-05	0	0	0	0	5.248e-05	0	2.332e-05	5.701e-05	3.472e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.462	0.36386	P	0.152	0.34249	B	.	.	.	.	1	0.08975	N	2.175	0.60977	M	1.03	0.40469	T	-1.15	0.29525	N	0.041	0.03841	-1.0119	0.26322	T	0.093	0.35390	T	7	0.071079314	0.10429	T	0.001478	0.02267	T	0.070	0.20419	0.258	0.20002	0.043077524339	0.03247	0.05236624517845099	0.05178	.	.	0.467012226582	0.34271	T	0.021951	0.17006	T	-0.340339	0.05364	T	-0.423521	0.30672	T	0.131828456292153	0.15550	T	0.684632	0.29972	T	0.15094694	0.34338	0.18774164	0.42023	0.15094694	0.34338	0.18774164	0.42022	-8.467	0.64211	D	.	.	0.120	0.28578	B	.;.	.;.	1.858254	0.23606	16.08	0.93571275912320728	0.23413	0.00040	0.00335	N	AEFI	0.026967	0.02121	N	-0.883970604830688	0.11224	0.5404707	-1.10778252144765	0.07550	0.3677109	1.09839826763181E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.019000	0.13337	.	.	0.134000	0.17662	0.261000	0.24959	0.000000	0.08366	0.014000	0.10232	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3466.98	33	chr21	13610400	.	A	G	3466.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.150e+00;DP=1038;ExcessHet=0.0000;FS=5.662;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.86;MQRankSum=-3.050e-01;QD=10.20;ReadPosRankSum=2.12;SOR=0.604	GT:AD:DP:GQ:PL	0/1:197,143:340:99:3481,0,4343	20	0	1	0
chr21	13610565	13610565	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.G337A:p.G113S,	.	.	444	172	461	445	0	1351	0.79705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	1.0	D	0.937	D	.	.	1.000	N	1.445	L	1.66	T	-0.997	T	0.095	T	0.13	0.280	5.514	-0.732	-0.424	-1.528	.	0.029	0.00277741158105	.	.	.	.	.	.	.	.	.	.	0.033169	5128	154602	rs6517869	1.401e-05	6.993e-05	3.992e-06	2.407e-05	6.081e-05	8.13e-06	6.36e-06	1.007e-05	3.77e-06	0	6.081e-05	0	0	5.033e-05	0	8.892e-06	2.573e-05	3.286e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.153	0.24372	T	0.043	0.49942	D	1.0	0.90584	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	1.15	0.29295	L	1.66	0.27486	T	-1.24	0.31375	N	0.08	0.05542	-0.9968	0.30810	T	0.095	0.35818	T	8	0.068237185	0.09622	T	0.002777	0.05781	T	0.029	0.06676	0.202	0.11659	0.0934897674506	0.08844	0.04415967261073172	0.04359	.	.	0.431079089642	0.29356	T	0.012796	0.11182	T	-0.31698	0.07148	T	-0.693096	0.06212	T	0.036694748014754	0.03102	T	0.636336	0.25008	T	0.046982475	0.07955	0.08034204	0.18165	0.046982475	0.07954	0.08034204	0.18164	-7.591	0.58248	D	.	.	0.092	0.21163	B	.;.	.;.	1.490668	0.19177	14.13	0.9114633486319289	0.20400	0.00123	0.00769	N	AEFI	0.021764	0.01007	N	-0.750059816202474	0.14632	0.7304896	-1.05968458506513	0.08505	0.4185625	1.33632449358699E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.418	-0.732	0.10585	-1.777000	0.01877	.	.	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	80837.62	225	chr21	13610565	.	G	A	80837.62	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.08;DP=4336;ExcessHet=0.5132;FS=0.571;InbreedingCoeff=0.1429;MLEAC=21;MLEAF=0.500;MQ=53.68;MQRankSum=-8.647e+00;QD=20.17;ReadPosRankSum=-1.350e-01;SOR=0.768	GT:AD:DP:GQ:PL	1/1:0,306:306:99:9713,919,0	6	6	9	0
chr21	13610631	13610631	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A403G:p.I135V,	.	.	439	188	453	442	0	1337	0.780502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	P	-1.67	N	0.69	T	-1.046	T	0.001	T	0.1	-2.566	0.003	-2.58	-1.089	-2.921	5.628	0.027	0.00179256116657	.	.	.	.	.	.	.	.	.	.	0.175004	4555	26028	rs6517870	0.0002	0.0006	0.0002	0.0002	0.0010	0.0002	0.0002	0.0007	0.0006	0	0.0010	0	0	0.0019	0	0.0001	7.755e-05	3.326e-05	0.0002	0.0008	0.0001	0.0003	0.0011	0.0001	0.0001	0.0006	0.0005	0	0	0.0011	0	0	0.0004	0	8.695e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	0.955	0.23872	L	0.69	0.51714	T	0.21	0.04776	N	0.013	0.00142	-1.0463	0.15447	T	0.001	0.00408	T	8	0.01186794	0.00257	T	0.001793	0.03063	T	0.027	0.05988	.	.	0.043077524339	0.03247	0.057245171207421994	0.05665	.	.	0.60823392868	0.54066	T	0.003659	0.03070	T	-0.325257	0.06477	T	-0.704986	0.05557	T	0.0231726184936854	0.01044	T	0.405359	0.11777	T	0.018582096	0.00380	0.026746769	0.00781	0.018582096	0.00379	0.026746769	0.00780	-2.614	0.06610	T	.	.	0.071	0.06571	B	.;.	.;.	-1.090417	0.00652	0.018	0.18791234627756773	0.00606	0.00044	0.00357	N	AEFI	0.015589	0.00305	N	-2.40962434727351	0.00026	0.001112248	-2.38906535767928	0.00042	0.001829696	4.90101459551143E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-2.58	0.05866	-2.318000	0.01202	.	.	-2.102000	0.00394	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.0:0.4308:0.0	5.628	0.16773	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	59193.62	215	chr21	13610631	.	A	G	59193.62	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.130e-01;DP=3704;ExcessHet=0.5132;FS=4.353;InbreedingCoeff=0.1429;MLEAC=21;MLEAF=0.500;MQ=48.41;MQRankSum=-1.386e+01;QD=17.52;ReadPosRankSum=0.974;SOR=1.008	GT:AD:DP:GQ:PL	1/1:0,251:251:99:7764,753,0	6	6	9	0
chr21	13615163	13615163	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon2:c.G562A:p.V188I,	.	.	443	970	99	10	0	119	0.057795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.828	P	0.277	B	0.231	N	0.996	P	0.59	N	0.02	T	-0.958	T	0.103	T	0.189	0.879	8.566	0.47	0.155	2.071	3.756	0.122	0.00376332875409	.	.	.	.	.	.	.	.	.	.	0.0017011	263	154602	rs202239184	0	2.067e-05	0	0	.	0	0	.	.	.	.	.	.	.	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.28026	T	0.345	0.34477	T	0.828	0.46021	P	0.277	0.40197	B	0.230892	0.15923	N	0.510182	0.996496	0.22997	P	0.6	0.15550	N	0.02	0.62318	T	-0.67	0.19297	N	0.111	0.12484	-0.9580	0.39552	T	0.103	0.37969	T	9	0.14735743	0.27923	T	0.003763	0.08744	T	0.122	0.33800	0.594	0.72371	0.0675242888579	0.06100	0.04725406536774047	0.04668	.	.	0.770040154457	0.77431	T	0.011295	0.10097	T	-0.177465	0.24114	T	-0.492693	0.23110	T	0.224179267883301	0.21671	T	0.772023	0.41691	T	0.041820783	0.06228	0.031511057	0.01751	0.041820783	0.06228	0.031511057	0.01751	-4.42	0.29827	T	.	.	0.083	0.19398	B	.;.	.;.	0.741717	0.11111	7.758	0.90155155682714561	0.19433	0.40751	0.26506	N	AEFI	0.040205	0.05947	N	-0.58706486722076	0.19337	1.011209	-0.717818458711297	0.16516	0.874134	1.57862715642254E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.4	0.47	0.15957	1.445000	0.34690	.	.	-1.674000	0.00795	1.000000	0.71638	0.000000	0.08366	0.012000	0.09680	0.2531:0.0:0.7469:0.0	3.756	0.08111	.	.	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3777.11	39	chr21	13615163	.	G	A	3777.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.61;DP=984;ExcessHet=0.1072;FS=0.414;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=49.10;MQRankSum=0.715;QD=12.18;ReadPosRankSum=-9.160e-01;SOR=0.725	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1353	19	0	2	0
chr21	13620240	13620240	C	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon5:c.C1000A:p.Q334K,	.	.	.	.	.	.	.	.	.	.	.	2758032	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.67	T	0.259	B	0.149	B	0.467	N	1.000	N	0.33	N	0.09	T	-1.064	T	0.088	T	0.107	-0.414	2.068	-1.81	-0.643	-0.538	2.401	0.051	0.00819951725523	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1306059321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.512	0.07449	T	0.771	0.17857	T	0.259	0.31472	B	0.149	0.34106	B	0.467246	0.04905	N	1.532860	1	0.08975	N	0.725	0.18768	N	0.09	0.61443	T	-1.5	0.36586	N	0.046	0.02759	-1.0643	0.10713	T	0.088	0.33885	T	10	0.0132237375	0.00281	T	0.008	0.21725	T	0.051	0.14325	.	.	0.082315109003	0.07666	0.03654948223251494	0.03601	.	.	0.850446879864	0.89682	D	0.012183	0.10755	T	-0.262188	0.12645	T	-0.614391	0.11630	T	0.018293679865082	0.00548	T	0.466353	0.13696	T	0.074623495	0.16760	0.039513443	0.04062	0.074623495	0.16759	0.039513443	0.04062	-3.887	0.22107	T	.	.	0.065	0.02012	B	.;.	.;.	-0.486180	0.01911	0.160	0.38259983441079382	0.02570	0.00245	0.01356	N	AEFI	0.024213	0.01464	N	-1.32089193754298	0.03437	0.1535123	-1.4542553663079	0.02732	0.1261825	2.13027276055481E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.906	-1.81	0.07456	-0.473000	0.06694	.	.	-1.876000	0.00547	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.0:0.4142:0.3246:0.2611	2.401	0.04132	.	.	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	536.98	44	chr21	13620240	.	C	A	536.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.688e+00;DP=922;ExcessHet=0.0000;FS=0.789;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=26.98;MQRankSum=-2.195e+00;QD=3.36;ReadPosRankSum=-4.830e-01;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,105,1575	20	0	1	0
chr21	13620259	13620259	C	T	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon5:c.C1019T:p.T340M,	.	.	593	926	3	0	0	3	0.00161725	.	.	2261281	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.403	B	0.026	B	0.766	N	1.000	N	3.395	M	-0.91	T	-0.612	T	0.368	T	0.284	-0.443	1.944	-0.047	-0.152	0.835	4.281	0.187	0.0127483285692	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1204719286	0.0004	0.0002	0.0005	0.0003	0.0006	0.0003	0.0003	0.0004	0.0003	0	0.0005	0	0	0.0003	0	0.0004	0.0007	0.0006	0.0003	0.0003	0.0003	0.0003	0.0008	0.0001	0.0001	0.0002	0.0001	0	0	0.0008	0	0	0	0	0.0004	0	0	0.024	0.47745	D	0.028	0.54934	D	0.403	0.34918	B	0.026	0.20792	B	0.765623	0.09587	N	0.811655	1	0.08975	N	3.355	0.91145	M	-0.91	0.75001	T	-3.01	0.62518	D	0.496	0.57006	-0.6119	0.64324	T	0.368	0.72818	T	10	0.011735231	0.00255	T	0.012748	0.31594	T	0.187	0.46274	.	.	0.102598925029	0.09809	0.239190598635957	0.23833	.	.	0.842837691307	0.88527	D	0.217771	0.58031	T	-0.0587683	0.43101	T	-0.322193	0.42334	T	0.0894977141757982	0.11158	T	0.506749	0.19458	T	0.048689965	0.08526	0.055683207	0.09811	0.048689965	0.08525	0.055683207	0.09811	-9.305	0.69638	D	.	.	0.116	0.30476	B	.;.	.;.	2.103264	0.26765	17.23	0.87038986664454721	0.16946	0.00834	0.03351	N	AEFI	0.027089	0.02151	N	-0.979138055021709	0.09050	0.426731	-1.21473015759257	0.05673	0.2709455	1.11878900533397E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.906	-0.0467	0.13175	1.120000	0.30885	.	.	-0.678000	0.04252	0.606000	0.27796	0.000000	0.08366	0.000000	0.00833	0.0:0.7365:0.0:0.2635	4.281	0.10279	.	.	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	429.98	44	chr21	13620259	.	C	T	429.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.22;DP=898;ExcessHet=0.0000;FS=2.167;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=27.62;MQRankSum=-1.892e+00;QD=3.12;ReadPosRankSum=1.34;SOR=1.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,105,1575	20	0	1	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V,	.	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	0.053	B	0.007	B	.	.	1.000	N	1.335	L	2.51	T	-0.946	T	0.021	T	0.32	0.122	4.658	2.1	0.975	1.396	3.884	0.056	0.000925184405604	.	.	.	.	.	.	.	.	.	.	0.0332984	5148	154602	rs9980783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.265	0.22694	T	0.053	0.22573	B	0.007	0.12992	B	.	.	.	.	0.999995	0.08975	N	1.295	0.32453	L	2.51	0.14284	T	-0.92	0.24676	N	0.112	0.09914	-0.9460	0.41648	T	0.021	0.08870	T	9	0.058576673	0.06907	T	9.25E-4	0.00889	T	0.056	0.15993	0.204	0.11936	0.0675242888579	0.06100	0.017058676146940573	0.01660	.	.	0.862693071365	0.91508	D	0.009423	0.08576	T	-0.65755	0.00065	T	-0.573482	0.15131	T	0.0619566306163236	0.07473	T	0.571043	0.20346	T	0.060948554	0.12567	0.09257506	0.21825	0.060948554	0.12567	0.09257506	0.21824	-3.238	0.12951	T	.	.	0.097	0.15788	B	.	.	0.712273	0.10810	7.493	0.4975947206577841	0.04266	0.04450	0.10053	N	AEFI	0.042990	0.06739	N	-0.991022779855283	0.08795	0.4137322	-1.03117548479235	0.09104	0.4510756	2.3450725238948E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.1	2.1	0.26226	1.579000	0.36145	.	.	0.351000	0.19951	0.307000	0.25387	0.000000	0.08366	0.054000	0.15518	0.8091:0.0:0.1909:0.0	3.884	0.08596	.	.	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	43117.62	207	chr21	13641414	.	A	G	43117.62	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.110e+00;DP=2761;ExcessHet=0.5132;FS=0.565;InbreedingCoeff=0.1429;MLEAC=21;MLEAF=0.500;MQ=58.03;MQRankSum=-1.526e+00;QD=17.27;ReadPosRankSum=0.159;SOR=0.606	GT:AD:DP:GQ:PL	1/1:0,196:196:99:5690,588,0	6	6	9	0
chr21	14381318	14381318	C	T	exonic	HSPA13	.	nonsynonymous SNV	HSPA13:NM_006948:exon2:c.G251A:p.S84N,	.	.	.	.	.	.	.	.	.	.	.	2437839	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.491	P	0.322	B	0.000	D	1.000	D	0.345	N	5.42	T	-0.341	T	0.004	T	0.152	3.462	17.73	4.76	2.691	3.426	15.485	0.198	0.0343213790526	0.0003	.	3.295e-05	0.0004	0	0	0	0	0	0	2.59e-05	4	154602	rs144611864	1.231e-05	1.231e-05	1.225e-05	1.238e-05	0.0004	7.7e-06	6.35e-06	0.0003	0.0002	0.0004	4.472e-05	0	0	0	0	0	1.656e-05	1.159e-05	0.0001	0.0001	0.0001	0.0001	0.0004	7.578e-05	6.282e-05	0.0003	0.0002	0.0004	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.491	0.36960	P	0.322	0.41795	B	0.000001	0.84330	D	0.126763	0.640171	0.81001	D	1.24	0.30952	L	5.42	0.00999	T	-2.31	0.51319	N	0.619	0.63459	-0.3410	0.73814	T	0.004	0.01226	T	10	0.45613265	0.59000	T	0.034321	0.55594	D	0.198	0.48105	.	.	0.512192450023	0.50859	0.8931103184075242	0.89281	0.416855319736	0.42318	0.486166894436	0.36908	T	0.150097	0.48941	T	-0.408216	0.02043	T	-0.507995	0.21521	T	0.268533538772329	0.23684	T	0.886111	0.61235	D	0.6568261	0.75729	0.6253699	0.78163	0.6568261	0.75730	0.6253699	0.78164	-8.963	0.67458	D	.	.	0.821	0.78279	P	.	.	4.004900	0.59035	24.1	0.99209334251507741	0.55533	0.83402	0.42522	D	AEFBCI	0.398667	0.47425	N	0.161862460448573	0.49374	3.138618	0.309453809205289	0.56094	3.772405	0.999999852455274	0.74766	0.660085	0.49399	0	0.685571	0.66316	0	0.685571	0.62057	0	0.651492	0.60203	0	.	.	5.7	4.76	0.60189	3.479000	0.52928	5.743000	0.49584	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.1391:0.8609:0.0:0.0	15.485	0.75289	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1903.98	33	chr21	14381318	.	C	T	1903.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.114e+00;DP=925;ExcessHet=0.0000;FS=4.174;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.87;ReadPosRankSum=-7.350e-01;SOR=0.794	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1158	20	0	1	0
chr21	15877814	15877814	G	A	exonic	USP25	.	nonsynonymous SNV	USP25:NM_001352560:exon23:c.G2155A:p.A719T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.999	D	0.914	D	0.000	D	1.000	D	1.79	L	1.82	T	-0.897	T	0.147	T	0.788	4.925	28.5	5.58	2.641	9.412	19.160	0.204	.	0.0035	0.00379393	0.0017	0.0116	0.0009	0	0	0.0012	0	0	0.0014553	225	154602	rs34979861	0.0009	0.0009	0.0011	0.0008	0.0085	0.0009	0.0009	0.0077	0.0074	0.0085	0.0011	3.838e-05	5.057e-05	3.754e-05	0.0002	0.0009	0.0010	3.503e-05	0.0032	0.0032	0.0033	0.0030	0.0090	0.0029	0.0028	0.0083	0.0080	0.0090	0.0011	0.0028	0	0.0002	0.0002	0	0.0009	0.0009	0	0.084	0.43393	T	0.301	0.36101	T	0.956	0.77913	P	0.207	0.64984	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.995	0.54099	M	1.82	0.33630	T	-2.6	0.58085	D	0.692	0.77413	-0.8967	0.48322	T	0.147	0.47290	T	10	0.00778684	0.00177	T	.	.	.	0.204	0.49076	.	.	0.452476734342	0.44872	0.45655362566136426	0.45573	0.762233562967	0.64326	0.678966999054	0.64120	T	0.077981	0.35783	T	-0.214048	0.18812	T	-0.0728495	0.65423	T	0.0445578104128414	0.04522	T	0.876612	0.91743	D	0.5209732	0.68315	0.3169283	0.57671	0.5209732	0.68316	0.3169283	0.57670	-8.156	0.62579	D	.	.	0.498	0.65355	A	.;.;.;.	.;.;.;.	4.623822	0.73450	26.0	0.99907913845347573	0.97801	0.99299	0.94153	D	AEFBI	0.870997	0.79220	D	0.702715586896562	0.79811	7.157107	0.740790536902179	0.85466	8.589466	0.999999999996641	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	9.572000	0.97338	11.853000	0.98135	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:0.0:1.0:0.0	19.160	0.93514	909	0.22467	.;Ubiquitin specific protease domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	338.98	33	chr21	15877814	.	G	A	338.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.31;DP=729;ExcessHet=0.0000;FS=1.345;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.27;ReadPosRankSum=-2.060e-01;SOR=1.032	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1065	20	0	1	0
chr21	25712346	25712346	T	A	exonic	JAM2	.	nonsynonymous SNV	JAM2:NM_001270407:exon8:c.T720A:p.S240R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.294	B	0.057	B	1.000	U	1.000	N	0.69	N	0.98	T	-1.028	T	0.123	T	0.364	0.997	9.073	-1.55	-0.120	-0.480	4.961	0.062	0.0214273468274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	1.368e-06	0	2.791e-06	1.834e-06	2.3e-07	9e-08	3.1e-07	1.1e-07	0	0	0	0	0	0	1.834e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.30097	T	0.391	0.22627	T	0.006	0.13644	B	0.002	0.06944	B	1.000000	0.07966	U	0.726682	1	0.08975	N	1.545	0.39105	L	0.98	0.69657	T	-1.17	0.29933	N	0.182	0.21449	-1.0276	0.21233	T	0.123	0.42589	T	10	0.036631286	0.01971	T	0.021427	0.44197	T	0.062	0.17934	0.222	0.14518	0.500805711387	0.49717	0.3441036410257074	0.34324	0.306553085064	0.32958	0.320573210716	0.13508	T	0.041336	0.25824	T	-0.0808765	0.39571	T	-0.35395	0.38752	T	0.0527934442113712	0.05984	T	0.728927	0.34527	T	0.034835503	0.03986	0.04017836	0.04283	0.034835503	0.03985	0.04017836	0.04282	-4.874	0.41150	T	.	.	0.163	0.36053	B	.;.;.	.;.;.	0.808808	0.11799	8.369	0.95191343276668172	0.26375	0.02278	0.06571	N	AEFBI	0.089551	0.18151	N	-1.11138149169398	0.06439	0.2964457	-1.11368396652398	0.07438	0.3617989	0.00302319809919052	0.09875	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.89	-1.55	0.08105	-0.570000	0.05986	-0.295000	0.10161	-0.123000	0.13640	0.013000	0.18845	0.001000	0.17328	0.974000	0.55675	0.0:0.401:0.1784:0.4207	4.961	0.13416	993	0.01300	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1757.98	34	chr21	25712346	.	T	A	1757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=849;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=0.856;SOR=0.704	GT:AD:DP:GQ:PL	0/1:90,77:167:99:1772,0,2064	20	0	1	0
chr21	26468542	26468542	G	A	exonic	CYYR1	.	nonsynonymous SNV	CYYR1:NM_001320768:exon4:c.C427T:p.R143C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.995	D	0.832	P	0.007	N	1.000	D	1.39	L	1.41	T	-1.043	T	0.115	T	0.409	2.517	14.38	4.51	2.788	3.037	13.048	0.151	0.0105816254474	.	.	1.651e-05	0	0	0	0	3.003e-05	0	0	1.29e-05	2	154602	rs774899929	2.809e-05	2.805e-05	3.545e-05	2.066e-05	3.334e-05	2.09e-05	1.881e-05	2.459e-05	2.147e-05	2.992e-05	0	3.83e-05	0	1.874e-05	0	3.334e-05	1.658e-05	0	1.973e-05	1.97e-05	0	4.04e-05	4.83e-05	5.25e-06	2.46e-06	8.01e-06	2.99e-06	4.83e-05	0	0	0	0	0	0	1.47e-05	0	0	0.009	0.57480	D	0.166	0.30828	T	0.995	0.67487	D	0.832	0.59730	P	0.007207	0.31533	N	0.394694	0.993108	0.81001	D	0.895	0.22405	L	1.41	0.33412	T	-3.34	0.66325	D	0.208	0.23125	-1.0429	0.16443	T	0.115	0.40717	T	10	0.22136316	0.38859	T	0.010582	0.27281	T	0.151	0.39764	0.204	0.11936	0.301455362545	0.29754	0.37982370762353174	0.37897	0.369130401993	0.38444	0.589890003204	0.51478	T	0.034782	0.23458	T	-0.215881	0.18558	T	-0.366346	0.37316	T	0.725176155567169	0.41962	D	0.822818	0.48291	T	0.14511618	0.33279	0.15063147	0.35516	0.14511618	0.33279	0.15063147	0.35516	-4.268	0.27726	T	.	.	0.108	0.20430	B	.	.	4.232553	0.64109	24.7	0.99916781316890269	0.98449	0.69964	0.34397	D	AEFBI	0.291460	0.40258	N	0.362752003927755	0.59415	4.120848	0.303940185274479	0.55771	3.739939	0.995063003111551	0.33934	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.51	4.51	0.54589	3.545000	0.53401	6.455000	0.55682	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.289000	0.24236	0.0:0.0:1.0:0.0	13.048	0.58346	969	0.06854	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1540.98	33	chr21	26468542	.	G	A	1540.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.750;DP=834;ExcessHet=0.0000;FS=3.075;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=0.329;SOR=0.844	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1250	20	0	1	0
chr21	28946227	28946227	C	G	exonic	LTN1	.	nonsynonymous SNV	LTN1:NM_001320766:exon19:c.G3506C:p.G1169A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.002	B	0.002	B	0.884	N	0.808	N	0.345	N	2.32	T	-0.953	T	0.011	T	0.054	-0.870	0.502	0.853	-0.026	0.911	8.364	0.027	.	0.0079	0.0081869	0.0026	0.0293	0.0012	0	0	1.517e-05	0.0011	6.111e-05	0.0023932	370	154602	rs143802793	0.0007	0.0007	0.0008	0.0006	0.0261	0.0007	0.0007	0.0247	0.0241	0.0261	0.0010	0	0	0	0.0007	2.814e-05	0.0016	6.146e-05	0.0077	0.0077	0.0076	0.0078	0.0271	0.0073	0.0072	0.0258	0.0253	0.0271	0	0.0020	0	0	0	0.0034	4.41e-05	0.0038	0.0002	0.97	0.02052	T	0.736	0.05054	T	0.002	0.09854	B	0.002	0.06944	B	0.884279	0.08733	N	0.953736	0.999978	0.18612	N	1.5	0.37844	L	2.32	0.16794	T	-0.26	0.11185	N	0.185	0.20129	-0.9533	0.40398	T	0.011	0.04134	T	10	0.0025445223	0.00039	T	.	.	.	0.027	0.05988	.	.	0.123314135267	0.11883	0.14790753400350715	0.14712	0.259490706141	0.28504	0.246415406466	0.03400	T	0.061171	0.31583	T	-0.686062	0.00044	T	-0.736627	0.04034	T	0.00220206757829625	0.00023	T	0.653735	0.26383	T	0.024922043	0.01374	0.030128375	0.01431	0.024922043	0.01374	0.030128375	0.01431	-2.667	0.07219	T	.	.	0.087	0.12797	B	.;.;.	.;.;.	1.645283	0.20997	15.00	0.14906349691278065	0.00346	0.80685	0.40260	D	AEFBI	0.086309	0.17500	N	-0.693140095314705	0.16216	0.8242105	-0.550453394549577	0.20795	1.12198	0.983848349116598	0.30624	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.0	0.853	0.18139	0.734000	0.25769	1.490000	0.26882	0.549000	0.26987	0.942000	0.32722	1.000000	0.68203	0.905000	0.44082	0.0:0.4953:0.0:0.5047	8.364	0.31539	973	0.05605	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1262.98	34	chr21	28946227	.	C	G	1262.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.331;DP=869;ExcessHet=0.0000;FS=1.468;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=-2.950e-01;SOR=0.564	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr21	28947475	28947475	C	T	exonic	LTN1	.	nonsynonymous SNV	LTN1:NM_001320766:exon18:c.G3434A:p.C1145Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.0	B	0.001	B	0.118	N	1.000	N	0.695	N	2.3	T	-1.036	T	0.025	T	0.087	-1.138	0.112	4.35	1.362	1.710	3.419	0.064	0.00431434474615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.126	0.35205	T	0.0	0.02946	B	0.001	0.04355	B	0.118323	0.19118	N	0.549745	0.994866	0.23425	N	1.01	0.25309	L	2.3	0.17113	T	0.32	0.03955	N	0.128	0.15469	-1.0360	0.18544	T	0.025	0.10643	T	10	0.07342267	0.11091	T	0.004314	0.10467	T	0.064	0.18567	0.407	0.44066	0.043077524339	0.03247	0.36981611785559765	0.36895	0.403205941033	0.41266	0.387484490871	0.23315	T	0.186022	0.53918	T	-0.309086	0.07829	T	-0.681757	0.06877	T	0.165932254968091	0.18299	T	0.581942	0.21082	T	0.048919085	0.08603	0.06618377	0.13520	0.048919085	0.08602	0.06618377	0.13520	-3.545	0.17067	T	.	.	0.089	0.13876	B	.;.;.	.;.;.	2.566399	0.33247	19.28	0.39434889325414346	0.02721	0.72402	0.35439	D	AEFBCI	0.127451	0.24482	N	-0.261830607531422	0.30633	1.70995	-0.0872589048675904	0.35916	2.083661	0.998119622918807	0.36446	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.27	4.35	0.51454	1.802000	0.38490	4.861000	0.45471	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.1446:0.4773:0.2802:0.0979	3.419	0.06958	975	0.05339	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1056.98	41	chr21	28947475	.	C	T	1056.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.316;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=0.525;SOR=0.737	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1181	20	0	1	0
chr21	29042073	29042073	C	G	exonic	USP16	.	nonsynonymous SNV	USP16:NM_001001992:exon11:c.C1088G:p.T363S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.997	D	0.000	D	1.000	D	0.955	L	1.53	T	-0.980	T	0.136	T	0.26	4.109	21.2	5.12	2.668	4.946	18.763	0.165	0.0127488241123	.	.	2.524e-05	0	8.845e-05	0	0	0	0	0.0001	1.94e-05	3	154602	rs776708140	2.738e-06	2.736e-06	0	5.503e-06	4.64e-05	6.4e-07	4.3e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	0	0	4.64e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.36310	T	0.078	0.42436	T	0.98	0.60733	D	0.839	0.60107	P	0.000000	0.84330	D	0.048588	0.999991	0.81001	D	1.925	0.51371	L	1.53	0.30401	T	-3.23	0.65056	D	0.413	0.45898	-0.9804	0.34909	T	0.136	0.45145	T	10	0.49888223	0.61430	T	0.012749	0.31594	T	0.165	0.42395	0.396	0.42262	0.337378238328	0.33340	0.36532169287987665	0.36446	0.423011330703	0.42780	0.641618788242	0.58794	T	0.218704	0.58150	T	-0.26936	0.11828	T	-0.421094	0.30949	T	0.932539224624634	0.59865	D	0.887811	0.61653	D	0.35218808	0.57236	0.34341204	0.60053	0.35218808	0.57236	0.34341204	0.60052	-5.774	0.45639	T	.	.	0.207	0.43325	B	.;.;.	.;.;.	4.131654	0.61838	24.4	0.99618876215296437	0.75293	0.97779	0.77072	D	AEFBI	0.601799	0.59391	D	0.555346330868584	0.70409	5.497162	0.58516737349985	0.73877	6.042719	0.99999518068758	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.12	5.12	0.69459	5.009000	0.63753	7.639000	0.63104	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.763	0.91826	943	0.12886	.;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1578.98	34	chr21	29042073	.	C	G	1578.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.411;DP=829;ExcessHet=0.0000;FS=2.363;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=0.839;SOR=0.988	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1327	20	0	1	0
chr21	29063514	29063514	T	C	exonic	CCT8	.	nonsynonymous SNV	CCT8:NM_001282909:exon7:c.A560G:p.K187R	.	.	440	1075	7	0	0	7	0.00324525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.696	P	0.421	B	0.000	D	1.000	D	2.21	M	-0.32	T	-0.447	T	0.291	T	0.214	4.006	20.5	5.48	2.205	7.575	15.868	0.232	0.0268151337184	0.0006	0.00219649	0.0014	0.0002	0.0023	0	0.0002	0.0017	0.0044	0.0012	0.0013583	210	154602	rs139983851	0.0013	0.0013	0.0013	0.0013	0.0071	0.0012	0.0012	0.0054	0.0048	0.0002	0.0025	0.0052	0	0.0002	0.0071	0.0012	0.0017	0.0011	0.0011	0.0011	0.0010	0.0012	0.0025	0.0009	0.0009	0.0019	0.0017	0.0003	0	0.0025	0.0037	0	9.411e-05	0.0102	0.0012	0.0047	0.0010	0.226	0.19927	T	0.301	0.20422	T	0.696	0.41742	P	0.256	0.39259	B	0.000002	0.62929	D	0.134875	0.999994	0.58761	D	2.145	0.60081	M	-0.32	0.68181	T	-2.08	0.47514	N	0.286	0.33360	-0.4465	0.70515	T	0.291	0.66278	T	10	0.0084634125	0.00192	T	0.026815	0.49694	D	0.232	0.53354	.	.	0.447033504574	0.44327	0.44234095412281776	0.44151	0.190945093199	0.21410	0.567239880562	0.48288	T	0.432593	0.78031	T	-0.376657	0.03270	T	-0.320294	0.42542	T	0.0267913966580375	0.01515	T	0.979902	0.93529	D	0.60240364	0.72820	0.46811366	0.69146	0.60240364	0.72821	0.46811366	0.69147	-4.279	0.32045	T	.	.	0.095	0.17700	B	.;.;.	.;.;.	3.691859	0.52601	23.3	0.99829957502109545	0.91198	0.97779	0.77072	D	AEFBCI	0.897156	0.83903	D	0.476346966423615	0.65710	4.857076	0.538681291293889	0.70612	5.531113	0.999999999996558	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.546000	0.81086	7.838000	0.70402	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.868	0.78857	970	0.06235	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	720.98	43	chr21	29063514	.	T	C	720.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.740e-01;DP=784;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.88;ReadPosRankSum=0.647;SOR=0.699	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	20	0	1	0
chr21	29066908	29066908	A	G	exonic	CCT8	.	nonsynonymous SNV	CCT8:NM_001282909:exon4:c.T326C:p.L109P	.	.	435	1085	2	0	0	2	0.00092081	.	.	2756145	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	4.02	H	-1.75	D	0.925	D	0.823	D	0.992	4.223	21.9	5.73	2.302	8.846	16.320	0.957	0.195042132786	.	0.000199681	3.316e-05	0	0	0	0	0	0.0011	0.0002	3.23e-05	5	154602	rs575611934	2.544e-05	2.599e-05	2.459e-05	2.629e-05	0.0010	1.877e-05	1.639e-05	0.0005	0.0003	0	0	0	0	0	0.0010	1.445e-05	1.665e-05	0.0002	3.938e-05	3.936e-05	6.422e-05	1.342e-05	0.0002	1.714e-05	1.128e-05	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0	0.0002	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.979	0.74454	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.775	0.95212	H	-1.75	0.83495	D	-6.17	0.90254	D	0.888	0.88687	0.925	0.96036	D	0.823	0.94051	D	10	0.9205173	0.91407	D	0.195042	0.86398	D	0.957	0.99284	0.825	0.93657	0.955997074612	0.95552	0.9620870889583764	0.96194	0.88437448057	0.69906	0.723351120949	0.70535	T	0.861404	0.96928	D	0.280035	0.81319	D	0.428903	0.93018	D	0.991671442985535	0.82002	D	0.934906	0.75551	D	0.98680115	0.99582	0.9770711	0.99733	0.98680115	0.99582	0.9770711	0.99734	-11.627	0.88650	D	.	.	0.894	0.85503	P	.;.;.	.;.;.	5.300777	0.88993	29.8	0.99901977727768221	0.97350	0.99345	0.94800	D	AEFDGBI	0.964303	0.98641	D	1.04862998364195	0.97058	15.526	0.965799690921447	0.97848	16.88863	0.999999999999958	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.73	5.73	0.89730	8.832000	0.91692	9.281000	0.79714	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	16.320	0.82777	971	0.05719	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2058.98	33	chr21	29066908	.	A	G	2058.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.078e+00;DP=905;ExcessHet=0.0000;FS=4.996;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.30;ReadPosRankSum=1.74;SOR=0.976	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1253	20	0	1	0
chr21	29321470	29321470	G	A	exonic	BACH1	.	nonsynonymous SNV	BACH1:NM_001186:exon2:c.G190A:p.V64I	.	.	.	.	.	.	.	.	.	.	.	2702281	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.001	B	0.002	B	0.180	N	1.000	N	1.225	L	-0.28	T	-1.032	T	0.140	T	0.159	3.765	19.12	-1.24	-0.498	-0.173	2.630	0.056	0.0165580731146	.	0.000199681	1.65e-05	9.626e-05	0	0.0001	0	0	0	0	1.94e-05	3	154602	rs187935039	1.779e-05	1.779e-05	2.178e-05	1.375e-05	0.0002	1.237e-05	1.051e-05	9.928e-05	7.224e-05	0	0	0	0.0002	0	0	1.439e-05	1.656e-05	1.159e-05	1.313e-05	1.312e-05	0	2.685e-05	0.0004	2.18e-06	8.2e-07	6.832e-05	2.859e-05	0	0	0	0	0.0004	0	0	0	0	0	0.098	0.33923	T	0.064	0.45318	T	0.001	0.07471	B	0.002	0.06944	B	0.179546	0.17141	N	0.569174	1	0.08975	N	2.125	0.59049	M	-0.28	0.67543	T	-0.48	0.20791	N	0.129	0.13484	-1.0320	0.19809	T	0.140	0.45979	T	9	0.042164654	0.02940	T	0.016558	0.37875	T	0.056	0.15993	.	.	0.28297238246	0.27903	0.2516716039038459	0.25081	0.0733449993935	0.08227	0.270244091749	0.06172	T	0.127449	0.45448	T	-0.252633	0.13778	T	-0.419138	0.31174	T	0.0549820326268673	0.06354	T	0.738626	0.36682	T	0.060997225	0.12580	0.0625712	0.12264	0.060997225	0.12579	0.0625712	0.12263	-4.802	0.34615	T	.	.	0.071	0.05188	B	.;.;.;.;.	.;.;.;.;.	1.012523	0.13919	10.48	0.98233101743106632	0.39414	0.21900	0.21563	N	AEFGBCI	0.057381	0.10682	N	-0.908815361541958	0.10635	0.5091522	-0.922665738901022	0.11560	0.589647	0.999994045201919	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.19	-1.24	0.08948	-0.011000	0.12659	0.885000	0.22426	0.676000	0.76740	0.002000	0.15269	0.004000	0.18990	0.990000	0.65344	0.1966:0.2284:0.4572:0.1178	2.630	0.04641	969	0.06854	BTB/POZ domain|BTB/POZ domain|BTB/POZ domain;BTB/POZ domain|BTB/POZ domain|BTB/POZ domain;BTB/POZ domain|BTB/POZ domain|BTB/POZ domain;BTB/POZ domain|BTB/POZ domain|BTB/POZ domain;BTB/POZ domain|BTB/POZ domain|BTB/POZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1633.98	37	chr21	29321470	.	G	A	1633.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=823;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.85;ReadPosRankSum=-7.180e-01;SOR=0.627	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1264	20	0	1	0
chr21	29342679	29342679	G	A	exonic	BACH1	.	nonsynonymous SNV	BACH1:NM_001186:exon5:c.G2057A:p.G686E	.	.	424	1097	1	0	0	1	0.000455581	.	.	2395983	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.2	T	0.001	B	0.002	B	0.042	N	1.000	N	0.895	L	-0.59	T	-0.958	T	0.176	T	0.062	0.326	5.767	0.289	0.118	0.729	8.490	0.062	0.0386532302757	.	0.000199681	0.0001	0	8.675e-05	0	0	0.0002	0	0.0001	9.06e-05	14	154602	rs538792166	7.867e-05	7.867e-05	6.67e-05	9.075e-05	0.0016	6.666e-05	6.201e-05	0.0008	0.0006	5.974e-05	0.0002	0	0	0	0.0016	7.374e-05	0.0002	4.637e-05	0.0001	0.0001	0.0001	8.056e-05	0.0003	6.506e-05	5.319e-05	9.047e-05	7.012e-05	0	0	0.0003	0	0	0	0	0.0002	0.0005	0	0.131	0.26629	T	0.307	0.19908	T	0.001	0.07471	B	0.002	0.06944	B	0.042060	0.23883	N	0.388911	1	0.08975	N	1.7	0.43825	L	-0.59	0.71543	T	0.1	0.05810	N	0.015	0.00339	-0.9575	0.39644	T	0.176	0.52068	T	10	0.034733474	0.01693	T	0.038653	0.58353	D	0.062	0.17934	0.115	0.02372	0.640098834198	0.63713	0.37402064878483154	0.37316	0.118431318235	0.13333	0.287531048059	0.08563	T	0.029447	0.21097	T	-0.381082	0.03067	T	-0.510874	0.21226	T	0.0253217433933805	0.01315	T	0.411659	0.10685	T	0.03989837	0.05595	0.05935603	0.11125	0.03989837	0.05595	0.05935603	0.11125	-2.493	0.05734	T	.	.	0.073	0.06896	B	.;.	.;.	0.857738	0.12299	8.841	0.72732636536348605	0.10076	0.04303	0.09851	N	ALL	0.046939	0.07849	N	-0.927925278422129	0.10193	0.4859258	-0.958368303826247	0.10730	0.542265	0.99999999999997	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.693117	0.63056	0	0.654926	0.60358	0	.	.	5.12	0.289	0.14974	0.460000	0.21635	0.000000	0.13247	0.676000	0.76740	0.001000	0.13787	0.720000	0.26347	0.066000	0.16387	0.135:0.0:0.728:0.137	8.490	0.32258	969	0.06854	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	831.98	33	chr21	29342679	.	G	A	831.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=829;ExcessHet=0.0000;FS=2.932;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.45;ReadPosRankSum=-1.002e+00;SOR=0.655	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr21	30166019	30166019	G	C	exonic	CLDN17	.	nonsynonymous SNV	CLDN17:NM_012131:exon1:c.C599G:p.P200R,	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.584	P	0.17	B	0.763	N	1.000	N	0	N	0.19	T	-1.075	T	0.103	T	0.413	1.810	12.01	4.63	2.865	2.203	13.096	0.197	0.0113564658875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	3.42e-06	2.722e-06	4.125e-06	8.993e-07	1e-06	7.3e-07	.	.	0	0	0	0	0	0	8.993e-07	6.623e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.134	0.34241	T	0.584	0.38894	P	0.17	0.35299	B	0.762512	0.06548	N	1.105560	0.999999	0.08975	N	0.895	0.22405	L	0.19	0.60236	T	-1.99	0.45949	N	0.314	0.35408	-1.0750	0.08348	T	0.103	0.38019	T	10	0.19694963	0.35607	T	0.011356	0.28906	T	0.197	0.47942	0.471	0.54537	0.741454687348	0.73913	0.4658156791655238	0.46500	0.034062690304	0.03576	0.280822485685	0.07607	T	0.012638	0.11071	T	-0.0793958	0.39814	T	-0.351823	0.38996	T	0.241901826006767	0.22507	T	0.470553	0.13922	T	0.07852427	0.17885	0.13992864	0.33371	0.07852427	0.17885	0.13992864	0.33370	-5.614	0.42920	T	.	.	0.085	0.10352	B	.	.	2.188829	0.27903	17.62	0.96924135102294984	0.31629	0.75417	0.36924	D	AEFBI	0.070193	0.13925	N	-0.4431262236162	0.23974	1.291228	-0.419297235551423	0.24431	1.337782	0.999996715437603	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.63	4.63	0.57175	2.178000	0.42148	5.537000	0.48860	0.676000	0.76740	0.111000	0.23011	0.994000	0.32194	0.013000	0.09966	0.081:0.0:0.919:0.0	13.096	0.58605	565	0.70868	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1693.98	37	chr21	30166019	.	G	C	1693.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.108e+00;DP=839;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.45;ReadPosRankSum=-1.099e+00;SOR=0.699	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1350	20	0	1	0
chr21	30319785	30319785	G	A	exonic	KRTAP26-1	.	nonsynonymous SNV	KRTAP26-1:NM_203405:exon1:c.C251T:p.T84I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.779	P	0.397	B	0.322	N	1.000	N	0.69	N	3.85	T	-0.957	T	0.011	T	0.126	2.479	14.25	4.19	1.438	1.322	10.026	0.075	0.0114329380368	0.0013	0.000599042	0.0004	0.0040	0	0	0	1.502e-05	0	0	0.0003169	49	154602	rs144508244	7.868e-05	7.867e-05	8.169e-05	7.565e-05	0.0028	6.668e-05	6.202e-05	0.0023	0.0022	0.0028	8.951e-05	0	0	0	0	5.396e-06	0.0002	0	0.0009	0.0009	0.0010	0.0009	0.0033	0.0008	0.0008	0.0029	0.0027	0.0033	0	0.0001	0	0	0	0	0	0.0014	0	0.005	0.63226	D	0.12	0.35970	T	0.779	0.44223	P	0.397	0.44399	B	0.321798	0.14259	N	0.647778	1	0.08975	N	1.825	0.47900	L	3.85	0.03650	T	-2.69	0.57435	D	0.069	0.04188	-0.9573	0.39681	T	0.011	0.04321	T	10	0.006137103	0.00138	T	0.011433	0.29047	T	0.075	0.21907	.	.	0.498960498335	0.49530	0.06866944237473448	0.06804	0.635579275713	0.57371	0.28102633357	0.07636	T	0.005461	0.04911	T	-0.609502	0.00128	T	-0.64944	0.08993	T	0.0734905787304937	0.09133	T	0.375962	0.08979	T	0.1402113	0.32358	0.20780501	0.45055	0.1402113	0.32358	0.20780501	0.45054	-5.331	0.40249	T	.	.	0.215	0.44423	B	.	.	2.083655	0.26501	17.14	0.99821778004860384	0.90414	0.08007	0.13986	N	AEFBI	0.045922	0.07565	N	-0.301837793143523	0.29079	1.609412	-0.356723140083105	0.26302	1.451891	0.0167209429674288	0.12863	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	4.19	0.48645	1.348000	0.33592	1.760000	0.28546	0.590000	0.31872	0.003000	0.16062	0.010000	0.20010	0.644000	0.32530	0.0961:0.0:0.9039:0.0	10.026	0.41243	254	0.90023	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2084.98	35	chr21	30319785	.	G	A	2084.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.078e+00;DP=1085;ExcessHet=0.0000;FS=1.989;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=-1.495e+00;SOR=0.546	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1198	20	0	1	0
chr21	30337413	30337413	G	A	exonic	KRTAP27-1	.	stopgain	KRTAP27-1:NM_001077711:exon1:c.C256T:p.Q86X,	.	.	430	1072	20	0	0	20	0.00924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	.	.	.	.	0.631	N	1.000	D	.	.	.	.	.	.	.	.	.	2.624	14.73	3.22	1.295	2.129	9.238	.	.	0.0015	0.000998403	0.0015	0.0003	0.0029	0	0.0002	0.0019	0.0022	0.0013	0.0015718	243	154602	rs144648271	0.0017	0.0017	0.0017	0.0017	0.0076	0.0016	0.0016	0.0058	0.0052	0.0002	0.0022	0.0003	0	0.0004	0.0076	0.0018	0.0016	0.0017	0.0017	0.0017	0.0017	0.0018	0.0058	0.0015	0.0015	0.0048	0.0044	0.0003	0.0121	0.0058	0	0	0.0002	0	0.0020	0.0028	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	0.631278	0.10685	N	0.752745	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.22	0.24634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0220029	0.48567	T	0.189142	0.82521	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	7.754343	0.96829	36	0.99618946326035362	0.75293	0.21730	0.21504	N	AEFBIJ	0.026725	0.02056	N	0.433101555693606	0.63252	4.555354	0.103250409020266	0.44715	2.747879	0.989846802264893	0.31953	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.12	3.22	0.36041	2.460000	0.44689	5.243000	0.48069	0.618000	0.50648	0.386000	0.26055	0.999000	0.35428	0.142000	0.20019	0.0:0.0:0.7842:0.2158	9.238	0.36640	214	0.91692	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1308.98	38	chr21	30337413	.	G	A	1308.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.240e-01;DP=867;ExcessHet=0.0000;FS=1.444;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.73;ReadPosRankSum=0.360;SOR=0.833	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr21	30371744	30371744	C	A	exonic	KRTAP13-2	.	nonsynonymous SNV	KRTAP13-2:NM_181621:exon1:c.G470T:p.C157F,	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.008	B	0.01	B	0.580	N	1.000	N	0.495	N	4.13	T	-0.905	T	0.006	T	0.231	-1.205	0.070	-0.986	-0.305	-0.467	8.354	0.051	0.00256061060868	0.0018	0.000998403	0.0014	9.61e-05	0.0006	0	0.0005	0.0021	0.0011	0.0010	0.0013842	214	154602	rs150635388	0.0022	0.0022	0.0022	0.0022	0.0027	0.0022	0.0021	0.0026	0.0025	0.0002	0.0006	0.0003	0	0.0007	0.0005	0.0027	0.0024	0.0008	0.0014	0.0014	0.0013	0.0015	0.0023	0.0013	0.0012	0.0020	0.0019	0.0004	0.0022	0.0020	0.0003	0	0.0007	0	0.0023	0.0014	0.0006	1.0	0.00964	T	0.434	0.13557	T	0.008	0.14655	B	0.01	0.14941	B	0.580344	0.11149	N	0.755961	1	0.08975	N	0.345	0.11182	N	4.13	0.02865	T	-2.11	0.48020	N	0.22	0.24634	-0.9049	0.47458	T	0.006	0.02055	T	10	0.005710602	0.00127	T	0.002561	0.05150	T	0.051	0.14325	.	.	0.107399877778	0.10242	0.02533596297662893	0.02484	0.0513960998013	0.05660	0.304811447859	0.11122	T	0.008164	0.07514	T	-0.620363	0.00109	T	-0.666935	0.07806	T	0.00351370921589294	0.00037	T	0.122788	0.00953	T	0.15743911	0.35475	0.14609389	0.34625	0.15743911	0.35475	0.14609389	0.34624	-4.795	0.34533	T	.	.	0.100	0.17103	B	.	.	0.570958	0.09394	6.175	0.77439588165792017	0.11877	0.02481	0.06951	N	AEFGI	0.056227	0.10378	N	-0.949916595690883	0.09695	0.4599376	-0.92566730726182	0.11489	0.5856085	5.57073465863564E-5	0.04171	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.02	-0.986	0.09728	-0.665000	0.05386	-5.157000	0.01826	0.530000	0.24713	0.033000	0.20612	0.000000	0.08366	0.956000	0.50813	0.4947:0.4264:0.0:0.0789	8.354	0.31482	213	0.91726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2656.98	33	chr21	30371744	.	C	A	2656.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.365e+00;DP=887;ExcessHet=0.0000;FS=1.129;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=0.056;SOR=0.604	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1199	20	0	1	0
chr21	30372155	30372155	C	T	exonic	KRTAP13-2	.	nonsynonymous SNV	KRTAP13-2:NM_181621:exon1:c.G59A:p.R20H,	.	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.008	B	0.015	B	0.498	N	1.000	N	1.515	L	4.12	T	-0.932	T	0.006	T	0.049	-1.181	0.083	-5.38	-1.931	-3.123	8.668	0.017	.	.	0.00459265	0.0022	0.0004	0.0004	0.0080	0	4.5e-05	0.0011	0.0113	0.0009605	25	26028	rs146985381	0.0003	0.0005	0.0002	0.0003	0.0045	0.0002	0.0002	0.0040	0.0038	2.988e-05	0.0005	0	0.0045	0	0.0002	4.497e-05	0.0004	0.0011	0.0004	0.0004	0.0003	0.0004	0.0081	0.0003	0.0003	0.0062	0.0055	9.633e-05	0	0.0003	0	0.0081	0	0	8.822e-05	0	0	0.573	0.06125	T	0.547	0.09522	T	0.008	0.14655	B	0.015	0.17295	B	0.498224	0.05076	N	1.384710	1	0.08975	N	1.245	0.31408	L	4.12	0.02891	T	-1.22	0.30964	N	0.029	0.00666	-0.9319	0.43859	T	0.006	0.02168	T	10	0.00526163	0.00115	T	.	.	.	0.017	0.02790	.	.	0.0666544352282	0.05500	0.03280679048607703	0.03228	0.041224094407	0.04422	0.185662031174	0.00158	T	0.004361	0.03768	T	-0.75937	0.00015	T	-0.854164	0.00909	T	0.0107202127752488	0.00151	T	0.0826917	0.00607	T	0.022111395	0.00853	0.02959247	0.01315	0.022111395	0.00853	0.02959247	0.01315	-5.511	0.41971	T	.	.	0.067	0.02578	B	.	.	-0.698646	0.01324	0.072	0.45497395088511539	0.03575	0.00379	0.01920	N	AEFGI	0.038221	0.05377	N	-1.61840347795334	0.01176	0.05109043	-1.73686856580277	0.00984	0.04407105	0.00870166750117165	0.11725	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.42	-5.38	0.02465	-3.495000	0.00503	-6.817000	0.01299	-1.989000	0.00456	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3444:0.1055:0.5501	8.668	0.33296	213	0.91726	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1190.98	41	chr21	30372155	.	C	T	1190.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.311e+00;DP=1455;ExcessHet=0.0000;FS=0.793;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.12;MQRankSum=-1.491e+01;QD=2.57;ReadPosRankSum=3.76;SOR=0.737	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1461	20	0	1	0
chr21	30372164	30372164	T	C	exonic	KRTAP13-2	.	nonsynonymous SNV	KRTAP13-2:NM_181621:exon1:c.A50G:p.D17G,	.	.	427	1093	2	0	0	2	0.000914077	.	.	3445761	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.294	N	1.000	N	-2.045	N	4.15	T	-0.944	T	0.002	T	0.06	-2.682	0	-1.27	-0.424	-0.319	3.276	0.015	.	.	.	0.0016	0.0002	0	0.0003	0	0	0.0011	0.0111	3.84e-05	1	26028	rs747174722	3.012e-05	0.0003	6.809e-06	5.368e-05	0.0004	2.283e-05	2.034e-05	0.0003	0.0003	0	2.236e-05	0	0	0	0	8.993e-07	8.291e-05	0.0004	6.573e-06	1.313e-05	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.294335	0.14711	N	0.547266	1	0.08975	N	-2.76	0.00027	N	4.15	0.02815	T	3.14	0.00122	N	0.064	0.03613	-0.9438	0.42009	T	0.002	0.00556	T	10	0.0061333776	0.00138	T	.	.	.	0.015	0.02232	.	.	0.136095386433	0.13204	0.030010210120371784	0.02950	0.0421925499433	0.04548	0.256064206362	0.04433	T	0.001108	0.00619	T	-0.414471	0.01857	T	-0.833135	0.01208	T	0.0470627332758289	0.04976	T	0.0281972	0.00174	T	0.039171223	0.05359	0.039882857	0.04183	0.039171223	0.05359	0.039882857	0.04183	-1.42	0.01608	T	.	.	0.048	0.00096	B	.	.	-0.354506	0.02388	0.264	0.34407159458628483	0.02103	0.00071	0.00499	N	AEFGI	0.025255	0.01700	N	-1.71428917408364	0.00792	0.0342334	-1.63714447383078	0.01444	0.06529823	6.15448951348073E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.1	-1.27	0.08863	-0.239000	0.08983	-3.703000	0.02594	-0.258000	0.06954	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3062:0.4127:0.0:0.2811	3.276	0.06493	213	0.91726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1066.98	41	chr21	30372164	.	T	C	1066.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.277e+00;DP=1453;ExcessHet=0.0000;FS=1.817;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.27;MQRankSum=-1.427e+01;QD=2.30;ReadPosRankSum=3.70;SOR=0.853	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1461	20	0	1	0
chr21	30396162	30396162	T	C	exonic	KRTAP13-1	.	nonsynonymous SNV	KRTAP13-1:NM_181599:exon1:c.T76C:p.C26R,	.	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.021	B	0.062	B	0.062	N	1.000	D	1.795	L	4.08	T	-1.040	T	0.016	T	0.654	0.836	8.375	4.45	2.219	0.982	12.347	0.194	.	.	0.00379393	0.0012	9.61e-05	0	0.0001	0	0	0	0.0088	0.00073	19	26028	rs537703646	0.0006	0.0007	0.0004	0.0009	0.0093	0.0006	0.0006	0.0088	0.0085	8.961e-05	2.236e-05	0	0.0002	0	0.0007	7.194e-06	0.0012	0.0093	0.0004	0.0004	0.0002	0.0007	0.0116	0.0003	0.0003	0.0092	0.0083	2.406e-05	0	0.0001	0	0.0008	0	0	0	0.0005	0.0116	0.09	0.31987	T	0.081	0.41742	T	0.021	0.18474	B	0.062	0.26930	B	0.062423	0.22098	N	0.321942	0.999699	0.48338	D	2.835	0.82492	M	4.08	0.03003	T	-9.98	0.98796	D	0.692	0.69737	-1.0405	0.17162	T	0.016	0.06569	T	10	0.009869814	0.00221	T	.	.	.	0.194	0.47447	.	.	0.128392430309	0.12331	0.0406065942378191	0.04005	0.564248738431	0.52819	0.374484479427	0.21473	T	0.022421	0.17287	T	-0.0746959	0.40573	T	-0.345072	0.39769	T	0.0920602985593697	0.11460	T	0.134287	0.01062	T	0.66437197	0.76132	0.7107628	0.82938	0.66437197	0.76133	0.7107628	0.82939	-8.885	0.66953	D	.	.	0.112	0.21877	B	.	.	2.316990	0.29664	18.19	0.85588322715200726	0.15987	0.84506	0.43588	D	AEFI	0.191780	0.31896	N	-0.292589799790307	0.29434	1.632188	-0.239531373685354	0.30134	1.694061	0.120951921951306	0.16880	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.45	4.45	0.53365	0.603000	0.23848	0.075000	0.14313	0.580000	0.29708	0.666000	0.28313	0.001000	0.17328	0.455000	0.28006	0.0:0.0:0.0:1.0	12.347	0.54450	210	0.91826	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	4671.98	37	chr21	30396162	.	T	C	4671.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.400e-02;DP=1068;ExcessHet=0.0000;FS=2.410;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.74;MQRankSum=-1.373e+01;QD=13.90;ReadPosRankSum=-2.271e+00;SOR=0.839	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1366	20	0	1	0
chr21	30396187	30396187	A	T	exonic	KRTAP13-1	.	nonsynonymous SNV	KRTAP13-1:NM_181599:exon1:c.A101T:p.Q34L,	.	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.354	N	1.000	N	-2.85	N	4.47	T	-0.927	T	0.001	T	0.141	-2.474	0.003	0.649	0.098	-0.336	4.346	0.049	.	.	0.00379393	0.0015	9.61e-05	0	0.0002	0	1.499e-05	0.0011	0.0109	0.0009221	24	26028	rs370876980	0.0006	0.0007	0.0004	0.0009	0.0093	0.0006	0.0006	0.0088	0.0085	8.961e-05	2.236e-05	0	0.0002	0	0.0005	8.093e-06	0.0013	0.0093	0.0004	0.0004	0.0002	0.0007	0.0116	0.0003	0.0003	0.0092	0.0083	2.406e-05	0	0.0001	0	0.0008	0	0	0	0.0005	0.0116	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.354247	0.13768	N	0.512935	1	0.08975	N	-3.605	0.00002	N	4.47	0.02084	T	5.5	0.00015	N	0.135	0.13198	-0.9274	0.44516	T	0.001	0.00408	T	10	0.003017962	0.00049	T	.	.	.	0.049	0.13647	.	.	0.24896430686	0.24499	0.023584122140482566	0.02310	0.202401542243	0.22661	0.232496082783	0.02158	T	0.001348	0.00816	T	-0.675177	0.00051	T	-0.74084	0.03855	T	0.03241884003284	0.02375	T	0.0480952	0.00344	T	0.047309842	0.08065	0.038361523	0.03688	0.047309842	0.08065	0.038361523	0.03687	-1.554	0.01878	T	.	.	0.048	0.00094	B	.	.	-0.433897	0.02088	0.195	0.14086058009113822	0.00299	0.00087	0.00582	N	AEFI	0.015573	0.00304	N	-1.72735526877971	0.00749	0.03235311	-1.58653110998937	0.01737	0.07900387	1.21039193811813E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.45	0.649	0.16979	-0.252000	0.08825	0.107000	0.14728	-0.108000	0.15293	0.000000	0.06391	0.000000	0.08366	0.085000	0.17524	0.4584:0.0868:0.0:0.4548	4.346	0.10568	210	0.91826	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3660.98	37	chr21	30396187	.	A	T	3660.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.06;DP=1017;ExcessHet=0.0000;FS=4.171;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.93;MQRankSum=-1.492e+01;QD=12.67;ReadPosRankSum=-6.960e-01;SOR=0.944	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1366	20	0	1	0
chr21	30396550	30396550	G	A	exonic	KRTAP13-1	.	nonsynonymous SNV	KRTAP13-1:NM_181599:exon1:c.G464A:p.R155K,	.	.	428	1093	1	0	0	1	0.000457247	.	.	2308722	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.42	T	0.394	B	0.246	B	0.006	N	1.000	N	2.045	M	4.12	T	-0.977	T	0.011	T	0.223	3.145	16.52	1.68	0.377	1.766	3.731	0.073	0.00546116733406	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1187659142	5.472e-06	5.472e-06	4.084e-06	6.875e-06	3.478e-05	2.35e-06	1.7e-06	9.24e-06	4.56e-06	0	0	0	0	0	0	8.993e-07	6.623e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.21718	T	0.408	0.14633	T	0.394	0.34702	B	0.246	0.38861	B	0.006174	0.32222	N	0.140255	1	0.08975	N	2.84	0.82582	M	4.12	0.02891	T	-2.23	0.50012	N	0.144	0.14480	-0.9767	0.35749	T	0.011	0.03996	T	10	0.15071017	0.28500	T	0.005461	0.14045	T	0.073	0.21317	0.661	0.79894	0.455448229734	0.45171	0.03254468638713688	0.03202	0.254578666066	0.28029	0.284870564938	0.08181	T	0.011535	0.10280	T	-0.307746	0.07948	T	-0.582978	0.14280	T	0.416211903095245	0.29550	T	0.327867	0.06820	T	0.11658228	0.27496	0.11015078	0.26557	0.11658228	0.27496	0.11015078	0.26557	-6.588	0.50961	T	.	.	0.137	0.29860	B	.	.	2.536634	0.32808	19.15	0.97997836157970142	0.37453	0.08649	0.14548	N	AEFI	0.072235	0.14410	N	-0.516864032804262	0.21535	1.143559	-0.606778976197429	0.19317	1.035933	1.60589522992553E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.54	1.68	0.23219	1.101000	0.30650	3.285000	0.37261	0.676000	0.76740	0.002000	0.15269	0.696000	0.26205	0.969000	0.54022	0.1806:0.0:0.4812:0.3382	3.731	0.08020	210	0.91826	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2672.98	37	chr21	30396550	.	G	A	2672.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.15;DP=925;ExcessHet=0.0000;FS=11.085;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.71;ReadPosRankSum=1.23;SOR=1.346	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1366	20	0	1	0
chr21	30430441	30430441	T	C	exonic	KRTAP13-4	.	nonsynonymous SNV	KRTAP13-4:NM_181600:exon1:c.T166C:p.W56R,	.	.	431	1069	22	0	0	22	0.0101852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.942	P	0.692	P	0.170	N	1.000	N	1.43	L	4.08	T	-1.027	T	0.016	T	0.262	1.576	11.23	2.47	0.383	0.701	5.546	0.062	0.00352397155328	0.0025	0.00319489	0.0036	0.0007	0.0035	0	0.0003	0.0039	0.0066	0.0072	0.0034476	533	154602	rs149298552	0.0034	0.0034	0.0033	0.0035	0.0088	0.0034	0.0033	0.0069	0.0064	0.0004	0.0031	0.0062	0	0.0002	0.0088	0.0035	0.0034	0.0070	0.0025	0.0025	0.0026	0.0025	0.0058	0.0023	0.0022	0.0041	0.0036	0.0005	0	0.0043	0.0061	0	9.411e-05	0.0136	0.0035	0.0028	0.0058	0.167	0.23095	T	0.205	0.27145	T	0.942	0.52977	P	0.692	0.53862	P	0.170203	0.03104	N	1.803450	1	0.08975	N	1.59	0.40313	L	4.08	0.03003	T	-3.06	0.63090	D	0.2	0.22098	-1.0270	0.21429	T	0.016	0.06425	T	10	0.009473383	0.00214	T	0.003524	0.08000	T	0.062	0.17934	0.463	0.53242	0.309839678437	0.30585	0.03973156893698603	0.03919	0.0558099705447	0.06170	0.246668711305	0.03425	T	0.093177	0.39157	T	-0.569704	0.00222	T	-0.587111	0.13916	T	0.0528896549614816	0.06001	T	0.294771	0.05441	T	0.22722381	0.45418	0.21949627	0.46691	0.22722381	0.45418	0.21949627	0.46690	-3.734	0.19821	T	.	.	0.159	0.35119	B	.	.	1.554640	0.19923	14.50	0.85889997240862936	0.16177	0.26457	0.22998	N	AEFI	0.040889	0.06145	N	-0.197699678893629	0.33229	1.882883	-0.342269674115666	0.26747	1.479514	0.549009861814607	0.21318	0.559995	0.30671	0	0.573888	0.26702	0	0.527494	0.11647	0	0.564101	0.26826	0	.	.	4.95	2.47	0.29113	0.773000	0.26323	-1.939000	0.04464	0.658000	0.54486	0.697000	0.28597	0.000000	0.08366	0.014000	0.10232	0.1765:0.0:0.1704:0.6531	5.546	0.16353	238	0.90711	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1515.98	36	chr21	30430441	.	T	C	1515.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.498e+00;DP=936;ExcessHet=0.0000;FS=0.719;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=-6.620e-01;SOR=0.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1331	20	0	1	0
chr21	30440460	30440460	T	A	exonic	KRTAP15-1	.	nonsynonymous SNV	KRTAP15-1:NM_181623:exon1:c.T133A:p.S45T,	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.973	D	0.899	P	0.027	N	1.000	N	2.265	M	3.97	T	-1.108	T	0.030	T	0.408	3.080	16.29	3.51	1.115	1.748	6.902	0.107	0.00424324631237	.	0.00179712	0.0006	0	0	0	0	0	0	0.0042	0.000511	79	154602	rs539329702	0.0002	0.0002	0.0001	0.0002	0.0028	0.0002	0.0002	0.0025	0.0024	0	0	0	0	0	0	8.993e-07	0.0004	0.0028	8.535e-05	8.531e-05	5.139e-05	0.0001	0.0027	4.953e-05	3.96e-05	0.0016	0.0013	0	0	0	0	0	0	0	0	0	0.0027	0.002	0.72154	D	0.078	0.42261	T	0.973	0.57599	D	0.899	0.63802	P	0.027439	0.25758	N	0.276731	1	0.08975	N	2.735	0.79925	M	3.97	0.03326	T	-2.92	0.61129	D	0.313	0.35301	-1.1083	0.03219	T	0.030	0.13067	T	10	0.024334073	0.00665	T	0.004243	0.10247	T	0.107	0.30369	0.863	0.95940	0.258283824007	0.25425	0.07156387971133599	0.07093	0.0317353606983	0.03287	0.30878508091	0.11723	T	0.176218	0.52608	T	-0.468362	0.00870	T	-0.446702	0.28062	T	0.231830977783323	0.22038	T	0.807219	0.45710	T	0.3614692	0.57948	0.31365642	0.57362	0.3614692	0.57949	0.31365642	0.57361	-4.275	0.27825	T	.	.	0.105	0.19357	B	.	.	1.969627	0.25023	16.61	0.98153839388403052	0.38713	0.15692	0.19036	N	AEFI	0.030907	0.03200	N	-0.00650833051490279	0.41560	2.488087	-0.208556034592533	0.31227	1.765316	1.14686263814857E-4	0.05269	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.66	3.51	0.39297	1.286000	0.32877	0.104000	0.14688	0.566000	0.28629	0.017000	0.19353	0.000000	0.08366	0.073000	0.16832	0.0:0.101:0.0:0.899	6.902	0.23469	247	0.90334	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3194.98	38	chr21	30440460	.	T	A	3194.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.445e+00;DP=1326;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.46;ReadPosRankSum=-2.050e-01;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,105,1343	20	0	1	0
chr21	30497103	30497103	T	G	exonic	KRTAP19-4	.	nonsynonymous SNV	KRTAP19-4:NM_181610:exon1:c.A8C:p.Y3S,	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.977	D	0.812	P	.	.	1.000	N	.	.	2.09	T	-1.072	T	0.083	T	0.431	-0.804	0.666	2.82	0.846	0.652	6.669	0.051	.	.	0.00399361	0.0019	0.0002	0	0.0005	0	0	0.0011	0.0135	0.0016623	257	154602	rs374028467	0.0008	0.0008	0.0004	0.0011	0.0112	0.0007	0.0007	0.0106	0.0104	0.0001	6.708e-05	0	0.0003	0	0.0007	1.079e-05	0.0017	0.0112	0.0005	0.0005	0.0002	0.0007	0.0126	0.0004	0.0003	0.0100	0.0091	2.416e-05	0	0.0002	0	0.0008	0	0	0	0.0005	0.0126	0.0	0.91255	D	0.031	0.53788	D	0.977	0.58535	D	0.812	0.58704	P	.	.	.	.	1	0.08975	N	.	.	.	2.09	0.20122	T	-8.1	0.96679	D	0.377	0.41853	-1.0716	0.09065	T	0.083	0.32671	T	8	0.0067730546	0.00154	T	.	.	.	0.051	0.14325	.	.	0.200317383148	0.19677	0.2565508879797129	0.25569	0.17131033113	0.19297	0.271837890148	0.06383	T	0.065614	0.32734	T	-0.4863	0.00681	T	-0.460281	0.26568	T	0.0906632486872694	0.11297	T	0.235876	0.03275	T	0.7716371	0.82147	0.6483363	0.79431	0.7716371	0.82148	0.6483363	0.79432	-7.872	0.60194	D	.	.	0.213	0.44174	B	.	.	1.606041	0.20528	14.79	0.59196947669218891	0.06168	0.11665	0.16783	N	AEFGI	0.039830	0.05838	N	-0.241918406365222	0.31428	1.76209	-0.450697231150138	0.23528	1.283592	2.05495308757004E-4	0.05948	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.0	2.82	0.32061	0.310000	0.19112	-0.415000	0.09322	0.609000	0.47794	0.001000	0.13787	0.000000	0.08366	0.025000	0.12405	0.211:0.0:0.0:0.789	6.669	0.22245	307	0.87649	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	4200.98	40	chr21	30497103	.	T	G	4200.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.08;DP=1176;ExcessHet=0.0000;FS=1.821;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=-2.420e-01;SOR=0.800	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1352	20	0	1	0
chr21	30592606	30592606	T	A	exonic	KRTAP6-3	.	nonsynonymous SNV	KRTAP6-3:NM_181605:exon1:c.T161A:p.L54Q,	.	.	462	1058	2	0	0	2	0.000944287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.991	D	0.877	P	.	.	0.899	N	1.445	L	1.37	T	-1.003	T	0.130	T	0.488	-0.364	2.285	2.27	1.283	0.669	6.486	0.076	.	.	0.00459265	0.0021	9.628e-05	0	0.0005	0.0002	3.002e-05	0.0066	0.0144	0.001824	282	154602	rs375609643	0.0009	0.0009	0.0005	0.0012	0.0130	0.0008	0.0008	0.0123	0.0121	8.987e-05	8.982e-05	0	0.0003	0	0.0007	3.066e-05	0.0019	0.0130	0.0005	0.0005	0.0002	0.0008	0.0138	0.0004	0.0004	0.0112	0.0102	2.424e-05	0	0.0002	0	0.0008	0	0	0	0	0.0138	.	.	.	0.241	0.24334	T	.	.	.	.	.	.	.	.	.	.	0.89871	0.27743	N	.	.	.	0.92	0.44461	T	-3.0	0.62343	D	0.45	0.48780	-1.0026	0.29168	T	0.130	0.44028	T	9	0.004766643	0.00101	T	.	.	.	0.076	0.22200	.	.	0.449060428229	0.44526	0.02419555607065345	0.02370	0.0567399249057	0.06275	.	.	.	.	.	.	-0.48543	0.00688	T	-0.458387	0.26776	T	0.0513611771785146	0.05738	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.39339	B	.	.	0.566876	0.09356	6.135	0.72902039138210872	0.10136	0.08455	0.14382	N	AEFI	0.077317	0.15574	N	-0.0926045225423308	0.37716	2.198326	-0.27426957154092	0.28948	1.618076	1.4780403091752E-4	0.05573	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.27	2.27	0.27501	0.147000	0.16021	0.536000	0.19291	0.546000	0.25710	0.150000	0.23655	0.003000	0.18671	0.002000	0.04165	0.0:0.0:0.0:1.0	6.486	0.21287	518	0.74548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2752.98	37	chr21	30592606	.	T	A	2752.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.420e-01;DP=1093;ExcessHet=0.0000;FS=0.622;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.52;ReadPosRankSum=2.81;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1259	20	0	1	0
chr21	30592609	30592609	A	G	exonic	KRTAP6-3	.	nonsynonymous SNV	KRTAP6-3:NM_181605:exon1:c.A164G:p.D55G,	.	.	460	1055	7	0	0	7	0.00330657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	-1.585	N	1.47	T	-1.019	T	0.021	T	0.164	-0.125	3.388	2.41	0.580	-0.102	5.444	0.066	.	.	0.00479233	0.0021	0.0003	0.0002	0.0005	0.0002	3.003e-05	0.0066	0.0144	0.0018628	288	154602	rs13433449	0.0009	0.0009	0.0005	0.0013	0.0130	0.0009	0.0008	0.0124	0.0122	0.0002	0.0001	0	0.0003	0	0.0007	3.079e-05	0.0019	0.0130	0.0005	0.0005	0.0002	0.0008	0.0140	0.0004	0.0004	0.0113	0.0103	9.781e-05	0	0.0002	0	0.0008	0	0	0	0	0.0140	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	0.999871	0.19925	N	.	.	.	.	.	.	.	.	.	0.113	0.10056	-1.0194	0.23910	T	0.021	0.08686	T	9	0.0076227784	0.00173	T	.	.	.	0.066	0.19193	.	.	0.043077524339	0.03247	0.0829687337200552	0.08231	0.0683271199715	0.07650	.	.	.	.	.	.	-0.566246	0.00233	T	-0.574473	0.15043	T	0.00781776708804724	0.00092	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.02993	B	.	.	0.245900	0.06257	2.711	0.74867231936353107	0.10857	0.00008	0.00134	N	AEFI	0.015307	0.00285	N	-1.14393770892306	0.05880	0.2692367	-1.03830919084909	0.08951	0.4427651	2.92796079070284E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.41	2.41	0.28644	0.327000	0.19408	2.931000	0.35616	-0.296000	0.06234	0.014000	0.18986	0.988000	0.31051	0.001000	0.02609	0.1681:0.0:0.8319:0.0	5.444	0.15822	518	0.74548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2755.98	37	chr21	30592609	.	A	G	2755.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.390e-01;DP=1094;ExcessHet=0.0000;FS=1.321;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.69;ReadPosRankSum=2.53;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1259	20	0	1	0
chr21	30598751	30598751	G	A	exonic	KRTAP6-2	.	nonsynonymous SNV	KRTAP6-2:NM_181604:exon1:c.C124T:p.H42Y,	.	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	.	.	3.45	T	-0.974	T	0.015	T	0.249	0.604	7.255	2.85	0.357	1.350	5.625	0.059	.	.	0.00459265	0.0020	9.628e-05	0	0.0002	0.0002	2.998e-05	0.0066	0.0143	0.001824	282	154602	rs112952516	0.0009	0.0009	0.0005	0.0012	0.0129	0.0008	0.0008	0.0123	0.0120	0.0002	8.946e-05	0	0.0001	0	0.0007	2.984e-05	0.0020	0.0129	0.0005	0.0005	0.0002	0.0008	0.0141	0.0004	0.0004	0.0114	0.0104	2.422e-05	0	0.0001	0	0.0006	0	0	0	0	0.0141	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	3.45	0.05311	T	-0.5	0.15782	N	0.18	0.19459	-0.9736	0.36431	T	0.015	0.05897	T	8	0.0051817894	0.00113	T	.	.	.	0.059	0.16972	.	.	0.107399877778	0.10242	0.015538050979433152	0.01509	0.0715753465514	0.08012	.	.	.	0.01037	0.09369	T	-0.592935	0.00161	T	-0.61281	0.11758	T	0.0184363068493512	0.00560	T	.	.	.	0.111112125	0.26259	0.117123134	0.28273	0.111112125	0.26259	0.117123134	0.28273	-0.787	0.00792	T	.	.	0.041	0.00020	B	.	.	1.334032	0.17395	13.14	0.81153189052608099	0.13545	0.00100	0.00648	N	AEFI	0.018262	0.00541	N	-0.535719204685375	0.20933	1.10725	-0.459896714976719	0.23268	1.268041	2.08760822122799E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.0	2.85	0.32333	2.379000	0.43973	4.159000	0.42198	-0.057000	0.16691	0.972000	0.34453	0.567000	0.25551	0.038000	0.14061	0.779:0.0:0.221:0.0	5.625	0.16759	523	0.74147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2468.98	35	chr21	30598751	.	G	A	2468.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.496e+00;DP=865;ExcessHet=0.0000;FS=0.591;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.15;ReadPosRankSum=-2.670e-01;SOR=0.779	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1193	20	0	1	0
chr21	30746967	30746967	T	G	exonic	KRTAP21-2	.	nonsynonymous SNV	KRTAP21-2:NM_181617:exon1:c.A236C:p.Y79S,	.	.	427	1088	7	0	0	7	0.0032066	.	.	2337610	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.232	B	0.075	B	.	.	1.000	N	.	.	.	.	-1.006	T	0.065	T	0.341	1.269	10.14	-0.635	0.235	-0.375	3.764	0.031	0.0125015625829	.	0.000199681	0.0002	0	0	0	0	0.0001	0	0.0013	0.000194	30	154602	rs199587941	0.0002	0.0002	0.0001	0.0002	0.0035	0.0002	0.0001	0.0023	0.0019	5.975e-05	4.472e-05	0	0	0	0.0035	9.445e-05	0.0002	0.0013	7.883e-05	7.875e-05	3.856e-05	0.0001	0.0012	4.496e-05	3.511e-05	0.0005	0.0004	0	0	0	0	0	0	0	8.82e-05	0	0.0012	0.0	0.91255	D	0.199	0.27679	T	0.232	0.30664	B	0.075	0.28327	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-7.29	0.94457	D	0.238	0.26837	-1.0061	0.28126	T	0.065	0.27017	T	7	0.017139673	0.00364	T	0.012502	0.31128	T	0.031	0.07369	.	.	0.0611884634855	0.05136	0.13285876787855533	0.13209	0.351425158729	0.36983	.	.	.	0.028245	0.20504	T	-0.40337	0.02200	T	-0.392723	0.34233	T	0.0935192221244569	0.11630	T	0.330567	0.06924	T	0.5106307	0.67716	0.55563015	0.74298	0.5106307	0.67717	0.55563015	0.74299	-6.012	0.46381	T	.	.	0.163	0.36073	B	.	.	1.619543	0.20688	14.86	0.80495402631002511	0.13230	0.03952	0.09354	N	AEFI	0.048546	0.08294	N	-0.743499015063855	0.14810	0.740958	-0.830323738216004	0.13761	0.7156483	1.73413948463077E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.5	-0.635	0.10934	-0.397000	0.07329	-3.238000	0.02945	0.572000	0.28966	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.336:0.2041:0.4599	3.764	0.08136	528	0.73785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1181.98	33	chr21	30746967	.	T	G	1181.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.950e-01;DP=800;ExcessHet=0.0000;FS=3.340;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.93;ReadPosRankSum=0.409;SOR=0.610	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1221	20	0	1	0
chr21	30746992	30746992	G	A	exonic	KRTAP21-2	.	stopgain	KRTAP21-2:NM_181617:exon1:c.C211T:p.R71X,	.	.	430	1086	4	2	0	8	0.00366972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.850	N	1.000	N	.	.	.	.	.	.	.	.	.	2.104	12.99	-0.774	-0.395	-2.296	1.890	.	.	0.0022	0.000399361	0.0021	0.0004	8.679e-05	0.0001	0.0005	0.0029	0.0022	0.0028	0.0019405	300	154602	rs147814118	0.0024	0.0024	0.0024	0.0025	0.0028	0.0024	0.0023	0.0027	0.0026	0.0005	0.0006	0.0010	2.519e-05	0.0011	0.0021	0.0028	0.0017	0.0028	0.0018	0.0018	0.0019	0.0017	0.0030	0.0016	0.0015	0.0027	0.0025	0.0003	0	0.0014	0.0023	0.0002	0.0007	0	0.0030	0.0005	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	0.850388	0.07054	N	1.109780	0.999997	0.08975	N	.	.	.	.	.	.	.	.	.	0.039	0.01274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0534382	0.43923	T	0.151279	0.80264	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	4.144893	0.62127	24.4	0.86188484580376112	0.16370	0.02799	0.07519	N	AEFGI	0.040107	0.05919	N	-0.361123416013194	0.26865	1.46955	-0.731949265597305	0.16168	0.8539533	7.58742871458166E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.64	-0.774	0.10437	-1.734000	0.01948	-20.000000	0.00162	-0.215000	0.08222	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1795:0.3041:0.3701:0.1464	1.890	0.03049	528	0.73785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2317.98	33	chr21	30746992	.	G	A	2317.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=864;ExcessHet=0.0000;FS=2.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=0.947;SOR=0.840	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1221	20	0	1	0
chr21	30755152	30755152	T	C	exonic	KRTAP21-1	.	nonsynonymous SNV	KRTAP21-1:NM_181619:exon1:c.A227G:p.Y76C,	.	.	427	1067	27	1	0	29	0.0134073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.008	B	0.006	B	.	.	1.000	N	.	.	.	.	-1.003	T	0.073	T	0.324	0.099	4.533	0.614	0.237	0.103	5.775	0.060	.	0.0010	0.00199681	0.0030	0.0002	0.0012	0.0001	0	0.0009	0.0055	0.0170	0.0025549	395	154602	rs148348278	0.0017	0.0017	0.0012	0.0023	0.0174	0.0017	0.0017	0.0167	0.0164	5.974e-05	0.0013	0.0014	2.519e-05	0	0.0104	0.0007	0.0019	0.0174	0.0012	0.0012	0.0008	0.0017	0.0122	0.0011	0.0010	0.0097	0.0088	0.0001	0	0.0029	0.0014	0	0	0	0.0010	0.0005	0.0122	0.0	0.91255	D	0.058	0.46182	T	0.008	0.14655	B	0.006	0.12133	B	.	.	.	.	0.999969	0.18878	N	.	.	.	.	.	.	-7.29	0.94457	D	0.6	0.61849	-1.0027	0.29139	T	0.073	0.29451	T	7	0.0084504485	0.00192	T	.	.	.	0.060	0.17295	.	.	0.130388298395	0.12655	0.05233386947642775	0.05175	0.0306325471804	0.03166	.	.	.	0.248699	0.61854	T	-0.413027	0.01898	T	-0.352435	0.38926	T	0.0423943778841176	0.04127	T	0.549145	0.18877	T	0.5183084	0.68162	0.5030433	0.71273	0.5183084	0.68163	0.5030433	0.71273	-2.464	0.05540	T	.	.	0.142	0.31151	B	.	.	2.593298	0.33647	19.40	0.84386920218165518	0.15262	0.02736	0.07409	N	AEFI	0.025934	0.01859	N	-0.700160313433485	0.16017	0.8124002	-0.721478876790158	0.16426	0.8689169	1.74057682139831E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.24	0.614	0.16778	0.098000	0.15027	-0.492000	0.08854	0.650000	0.52971	0.014000	0.18986	0.000000	0.08366	0.547000	0.30103	0.0:0.3482:0.0:0.6517	5.775	0.17542	572	0.70300	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	477.98	35	chr21	30755152	.	T	C	477.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.292;DP=737;ExcessHet=0.0000;FS=4.625;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.05;MQRankSum=1.66;QD=9.75;ReadPosRankSum=-2.689e+00;SOR=1.545	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1102	20	0	1	0
chr21	30881265	30881265	C	T	exonic	KRTAP11-1	.	nonsynonymous SNV	KRTAP11-1:NM_175858:exon1:c.G260A:p.R87Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.993	D	0.772	P	0.001	N	1.000	N	2.625	M	3.99	T	-1.025	T	0.030	T	0.335	3.220	16.79	3.44	1.398	1.165	14.436	0.138	0.0116620044545	7.7e-05	0.000199681	0.0001	0	0.0003	0	0	7.496e-05	0	0.0003	9.7e-05	15	154602	rs368602449	5.951e-05	5.951e-05	4.492e-05	7.425e-05	0.0009	4.883e-05	4.561e-05	0.0003	0.0002	0	0.0002	0	2.52e-05	0	0.0009	3.867e-05	0.0001	0.0002	3.941e-05	3.937e-05	3.855e-05	4.031e-05	0.0001	1.715e-05	1.129e-05	2.259e-05	1.125e-05	0	0	0.0001	0	0	0	0	5.881e-05	0	0	0.01	0.56456	D	0.163	0.31125	T	0.993	0.65571	D	0.772	0.56930	P	0.001147	0.40056	N	0.155844	1	0.08975	N	.	.	.	3.99	0.03268	T	-0.9	0.24244	N	0.157	0.16308	-1.0250	0.22083	T	0.030	0.13111	T	10	0.099481344	0.18057	T	0.011662	0.29506	T	0.138	0.37187	.	.	0.394837016283	0.39092	0.10821475807060425	0.10750	0.655370170623	0.58582	0.311800301075	0.12178	T	0.001068	0.00587	T	-0.402696	0.02223	T	-0.515898	0.20711	T	0.555301368236542	0.34677	D	0.626337	0.24237	T	0.18477063	0.39807	0.131798	0.31641	0.18477063	0.39807	0.131798	0.31640	-3.63	0.18292	T	.	.	0.074	0.05231	B	.	.	3.389725	0.46927	22.4	0.99911213154365919	0.98022	0.08552	0.14465	N	AEFBI	0.053198	0.09565	N	0.101792990974441	0.46547	2.893317	-0.0255660915200285	0.38564	2.273822	1.30070148954668E-4	0.05386	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.4	3.44	0.38486	1.191000	0.31747	0.260000	0.16533	0.599000	0.40250	0.376000	0.25973	0.002000	0.18203	0.986000	0.61781	0.0:0.7222:0.2778:0.0	14.436	0.66854	786	0.46839	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1876.98	33	chr21	30881265	.	C	T	1876.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.76;DP=1006;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.91;ReadPosRankSum=1.48;SOR=0.711	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1263	20	0	1	0
chr21	31223513	31223513	C	A	exonic	TIAM1	.	nonsynonymous SNV	TIAM1:NM_001353686:exon8:c.G1888T:p.G630C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.992	D	0.000	D	1.000	D	1.955	M	0.66	T	-0.376	T	0.325	T	0.964	4.947	28.7	4.67	2.578	7.551	18.125	0.437	0.0253802739248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.98	0.74843	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	0.51	0.55439	T	-5.75	0.87760	D	0.914	0.91621	-0.3762	0.72770	T	0.325	0.69333	T	10	0.82121944	0.81325	D	0.02538	0.48351	D	0.437	0.74164	0.341	0.33302	0.801641769357	0.79978	0.7844091673996759	0.78391	1.61337076957	0.88950	0.887850522995	0.94990	D	0.543501	0.84412	D	0.299314	0.82914	D	0.192167	0.82693	D	0.99884295463562	0.95344	D	0.937806	0.92553	D	0.8691583	0.88795	0.7128024	0.83054	0.8691583	0.88796	0.7128024	0.83055	-11.372	0.81658	D	.	.	0.916	0.83892	P	.;.	.;.	4.725747	0.76062	26.4	0.99798450368407454	0.88372	0.98407	0.82460	D	AEFBI	0.912796	0.87391	D	0.779429624493172	0.84802	8.390963	0.745219580745825	0.85801	8.689827	0.999999998756693	0.74766	0.562547	0.31514	0	0.588066	0.40923	0	0.608884	0.39905	0	0.564101	0.26826	0	.	.	4.67	4.67	0.58089	7.847000	0.85186	7.681000	0.65292	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.125	0.89512	859	0.33891	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1224.98	34	chr21	31223513	.	C	A	1224.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.287e+00;DP=814;ExcessHet=0.0000;FS=5.263;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.17;ReadPosRankSum=-2.486e+00;SOR=0.343	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1004	20	0	1	0
chr21	31995878	31995878	G	C	exonic	HUNK	.	nonsynonymous SNV	HUNK:NM_014586:exon10:c.G1416C:p.M472I,	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.0	B	0.0	B	0.214	N	1.000	N	-0.805	N	-0.04	T	-1.035	T	0.053	T	0.1	-2.396	0.003	0.337	-0.133	0.727	9.205	0.071	0.00873615619575	0.0026	0.00139776	0.0007	0.0081	0.0003	0	0	1.504e-05	0.0011	6.073e-05	0.0006533	101	154602	rs138721520	0.0002	0.0002	0.0003	0.0002	0.0080	0.0002	0.0002	0.0072	0.0069	0.0080	0.0003	0	0	0	0.0002	3.597e-06	0.0007	2.319e-05	0.0022	0.0022	0.0024	0.0020	0.0075	0.0020	0.0019	0.0068	0.0065	0.0075	0	0.0012	0	0	0	0	1.47e-05	0.0014	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.214240	0.16292	N	0.591295	0.999994	0.08975	N	-0.55	0.02420	N	-0.04	0.63240	T	0.16	0.05810	N	0.055	0.02658	-1.0350	0.18857	T	0.053	0.22578	T	10	0.002880603	0.00046	T	0.008736	0.23074	T	0.071	0.20720	0.24	0.17218	0.204265027416	0.20035	0.10573156513618052	0.10503	0.0997905954404	0.11272	0.319436997175	0.13335	T	0.023821	0.18113	T	-0.562593	0.00245	T	-0.575916	0.14912	T	0.000451991158907013	0.00004	T	0.623338	0.24021	T	0.071445405	0.15819	0.06721331	0.13876	0.071445405	0.15819	0.06721331	0.13876	-2.388	0.05060	T	.	.	0.083	0.31456	B	.;.	.;.	0.440899	0.08112	4.839	0.33656333664739535	0.02016	0.02076	0.06179	N	AEFBI	0.021004	0.00889	N	-1.40081251671027	0.02632	0.1164904	-1.33930140632295	0.03934	0.1845252	0.0575497442869058	0.15096	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.34	0.337	0.15206	0.759000	0.26127	0.292000	0.16883	-0.820000	0.02968	0.455000	0.26605	0.000000	0.08366	0.040000	0.14268	0.0:0.4763:0.443:0.0807	9.205	0.36446	809	0.43032	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2528.98	38	chr21	31995878	.	G	C	2528.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.426;DP=924;ExcessHet=0.0000;FS=4.368;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.91;ReadPosRankSum=-8.800e-01;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,120,1800	20	0	1	0
chr21	32514918	32514918	C	T	exonic	EVA1C	.	nonsynonymous SNV	EVA1C:NM_001320744:exon6:c.C733T:p.R245C	.	.	414	1088	20	0	0	20	0.00910747	.	.	2824686	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.972	D	0.386	B	0.834	N	1.000	N	2.045	M	0.72	T	-0.962	T	0.133	T	0.349	2.037	12.77	2.65	0.244	0.400	4.888	0.125	0.059310702192	0.0004	0.00139776	0.0013	0.0002	0.0003	0	0	0.0002	0.0044	0.0079	0.0010673	165	154602	rs140738179	0.0006	0.0006	0.0004	0.0009	0.0078	0.0006	0.0006	0.0073	0.0071	5.974e-05	8.944e-05	0	0	1.873e-05	0.0056	0.0001	0.0008	0.0078	0.0003	0.0003	0.0002	0.0005	0.0064	0.0003	0.0002	0.0047	0.0041	9.632e-05	0	0.0002	0	0	9.427e-05	0	0.0002	0	0.0064	0.003	0.68238	D	0.004	0.76473	D	0.972	0.57405	D	0.386	0.44011	B	0.833929	0.09085	N	0.932365	1	0.08975	N	2.455	0.71248	M	0.72	0.50976	T	-2.69	0.60348	D	0.162	0.24010	-0.9615	0.38897	T	0.133	0.44622	T	10	0.003971368	0.00077	T	0.059311	0.67621	D	0.125	0.34456	.	.	0.348764635752	0.34483	0.1997479735440801	0.19891	0.624057549516	0.56626	0.227707535028	0.01802	T	0.062609	0.34113	T	-0.422678	0.01645	T	-0.374234	0.36395	T	0.0331481682805986	0.02497	T	0.868713	0.57175	D	0.2716026	0.50231	0.1502797	0.35449	0.2716026	0.50231	0.1502797	0.35449	-8.344	0.63391	D	.	.	0.116	0.23465	B	.;.;.	.;.;.	2.350888	0.30139	18.34	0.99776970401835641	0.86433	0.07127	0.13153	N	AEFDBI	0.096577	0.19493	N	-0.274995800252365	0.30118	1.676358	-0.422410300280141	0.24340	1.33237	0.999979703514277	0.50053	0.722319	0.85440	0	0.573888	0.26702	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	5.61	2.65	0.30588	0.670000	0.24838	1.514000	0.27045	0.599000	0.40250	0.001000	0.13787	0.001000	0.17328	0.039000	0.14166	0.3919:0.413:0.1266:0.0684	4.888	0.13072	840	0.37365	EVA1 domain;EVA1 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2588.11	38	chr21	32514918	.	C	T	2588.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.06;DP=918;ExcessHet=0.1072;FS=1.027;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.61;ReadPosRankSum=2.13;SOR=0.615	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	19	0	2	0
chr21	32686996	32686996	C	T	exonic	SYNJ1	.	nonsynonymous SNV	SYNJ1:NM_001160302:exon8:c.G930A:p.M310I	Epileptic encephalopathy, early infantile, 53;Parkinson disease 20, early-onset, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	573756	Early-onset_Parkinson_disease_20|Developmental_and_epileptic_encephalopathy,_53	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530,Orphanet:391411|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.19	T	0.921	P	0.497	P	0.000	D	1.000	D	0.485	N	0.45	T	-0.961	T	0.139	T	0.865	4.052	20.8	5.85	2.775	7.669	20.17	0.266	0.0529689880911	.	.	0.0003	9.701e-05	0	0	0	1.506e-05	0	0.0018	0.0002005	31	154602	rs749045961	9.454e-05	0.0001	4.988e-05	0.0001	0.0016	8.12e-05	7.642e-05	0.0014	0.0013	3.418e-05	0	0	2.801e-05	0	0	3.691e-06	6.921e-05	0.0016	6.574e-05	6.567e-05	3.855e-05	9.423e-05	0.0017	3.518e-05	2.617e-05	0.0008	0.0006	4.828e-05	0	0	0	0	0	0	0	0	0.0017	0.122	0.34095	T	0.348	0.22016	T	0.921	0.51088	P	0.497	0.47562	P	0.000000	0.84330	D	0.068196	1	0.81001	D	0.35	0.11930	N	0.45	0.56446	T	-1.6	0.38540	N	0.779	0.77601	-0.9612	0.38955	T	0.139	0.45659	T	10	0.057552338	0.06629	T	0.052969	0.65281	D	0.266	0.57999	0.519	0.62066	0.52628473709	0.52276	0.46136452278008655	0.46054	1.4171152166	0.85547	0.758360266685	0.75685	T	0.266045	0.65510	T	-0.0941069	0.37397	T	0.0788154	0.75497	D	0.128693958698357	0.15260	T	0.967203	0.93912	D	.	.	.	.	.	.	.	.	-6.611	0.51138	T	.	.	0.888	0.86079	P	.;.;.;.;.;.	.;.;.;.;.;.	3.991614	0.58755	24.0	0.99528717260339195	0.69715	0.98398	0.82369	D	AEFBI	0.883558	0.81256	D	0.179163743917951	0.50199	3.212254	0.372260470570967	0.59858	4.167573	0.999999999999753	0.74766	0.651	0.46895	0	0.601575	0.49859	0	0.573888	0.23631	0	0.683762	0.67416	0	.	.	5.85	5.85	0.93663	7.572000	0.81736	7.659000	0.64126	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	20.17	0.98157	921	0.19240	.;SAC domain|SAC domain;SAC domain|SAC domain;SAC domain|SAC domain;SAC domain|SAC domain;SAC domain|SAC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	368.98	33	chr21	32686996	.	C	T	368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.399e+00;DP=751;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.86;ReadPosRankSum=-2.050e-01;SOR=0.652	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1114	20	0	1	0
chr21	33027799	33027799	G	A	exonic	OLIG2	.	nonsynonymous SNV	OLIG2:NM_005806:exon2:c.G937A:p.G313S,	.	.	425	1085	12	0	0	12	0.00549954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.008	B	0.003	B	0.024	U	0.966	N	-0.55	N	-0.36	T	-1.032	T	0.095	T	0.106	3.227	16.81	2.75	1.909	4.618	10.258	0.147	.	.	0.00479233	0.0223	0	0	0	.	0	0	0.0302	0.0007374	114	154602	rs527772945	0.0011	0.0011	0.0008	0.0014	0.0146	0.0010	0.0010	0.0138	0.0135	0.0002	0.0004	0	0	0	0.0040	0.0003	0.0014	0.0146	0.0008	0.0008	0.0005	0.0011	0.0159	0.0007	0.0006	0.0131	0.0120	0.0003	0	0.0003	0	0.0002	0	0.0034	0.0003	0.0005	0.0159	0.11	0.29158	T	0.277	0.21880	T	0.008	0.14655	B	0.003	0.08700	B	0.024480	0.26256	U	0.295815	0.966185	0.25905	N	0.44	0.12706	N	-0.36	0.68754	T	0.34	0.03824	N	0.095	0.07535	-1.0319	0.19841	T	0.095	0.35924	T	10	0.0035433471	0.00064	T	.	.	.	0.147	0.38986	0.045	0.00058	0.600666394621	0.59748	0.2782169804401459	0.27734	.	.	0.784941077232	0.79675	T	0.20874	0.56876	T	-0.492605	0.00629	T	-0.469982	0.25518	T	0.0241465658516032	0.01163	T	0.686431	0.29515	T	0.099593215	0.23506	0.14703816	0.34812	0.099593215	0.23505	0.14703816	0.34811	-3.11	0.11411	T	.	.	0.078	0.06663	B	.;.	.;.	3.311498	0.45507	22.1	0.98947868039647136	0.49074	0.84197	0.43280	D	AEFDBHCI	0.328620	0.42922	N	-0.421787598494971	0.24708	1.335987	-0.219550880316716	0.30835	1.739655	0.999964903668859	0.48965	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.75	2.75	0.31439	2.956000	0.48822	5.894000	0.50799	0.582000	0.30178	0.999000	0.42656	1.000000	0.68203	0.981000	0.58702	0.1228:0.0:0.8772:0.0	10.258	0.42586	640	0.64132	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	789.98	35	chr21	33027799	.	G	A	789.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=743;ExcessHet=0.0000;FS=9.020;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.75;ReadPosRankSum=-4.740e-01;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,105,1085	20	0	1	0
chr21	33252732	33252732	C	G	exonic	IFNAR2	.	nonsynonymous SNV	IFNAR2:NM_000874:exon7:c.C611G:p.T204R	.	.	2	1414	97	9	0	115	0.0390758	.	.	705659	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.22	T	1.0	D	0.999	D	0.425	N	0.973	D	1.935	M	1.31	T	-0.938	T	0.135	T	0.501	3.134	16.48	3.23	1.287	0.298	9.699	0.101	.	0.0028	0.00479233	0.0051	0.0009	0.0036	0	0.0003	0.0050	0.0110	0.0136	0.0046701	722	154602	rs147496374	0.0035	0.0035	0.0030	0.0040	0.0392	0.0034	0.0034	0.0350	0.0334	0.0010	0.0036	0.0165	0	0.0002	0.0392	0.0025	0.0057	0.0130	0.0039	0.0039	0.0037	0.0041	0.0149	0.0036	0.0035	0.0121	0.0111	0.0005	0.0482	0.0054	0.0190	0	0.0002	0.0753	0.0039	0.0085	0.0149	0.161	0.78490	T	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.425033	0.12822	N	0.738962	0.97282	0.38976	D	2.08	0.57402	M	1.31	0.35405	T	-3.11	0.73267	D	0.477	0.53884	-0.9382	0.42900	T	0.135	0.44875	T	10	0.010730058	0.00238	T	.	.	.	0.300	0.62068	.	.	0.764019764511	0.76186	0.7268006199058705	0.72624	0.299378326129	0.32306	0.459942519665	0.33302	T	0.265189	0.63704	T	-0.383608	0.02956	T	-0.312772	0.43360	T	0.0354205092465154	0.02880	T	0.816118	0.47523	T	0.28101838	0.51146	0.3051472	0.56542	0.29832277	0.52754	0.2683962	0.52706	-5.982	0.54933	T	.	.	0.147	0.43200	B	.;.;.;.;.;.	.;.;.;.;.;.	3.085038	0.41513	21.4	0.99482664130514209	0.66959	0.67555	0.33475	D	AEFBI	0.133793	0.25357	N	0.350668498744144	0.58776	4.051906	0.277183829879017	0.54211	3.586691	0.962429835307799	0.28622	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.13	3.23	0.36150	0.371000	0.20182	2.599000	0.33511	0.599000	0.40250	0.990000	0.36992	0.991000	0.31484	0.983000	0.59808	0.0:0.7603:0.2397:0.0	9.699	0.39341	917	0.20147	.;.;Interferon/interleukin receptor domain;.;Interferon/interleukin receptor domain;Interferon/interleukin receptor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	944.98	41	chr21	33252732	.	C	G	944.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.80;DP=919;ExcessHet=0.0000;FS=0.714;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.22;ReadPosRankSum=-2.900e-02;SOR=0.593	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr21	33349218	33349218	C	T	exonic	IFNAR1	.	nonsynonymous SNV	IFNAR1:NM_000629:exon7:c.C916T:p.R306C	.	.	426	1093	3	0	0	3	0.00137049	.	.	1158974	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.005	M	0.86	T	-0.228	T	0.360	T	0.796	5.190	32	5.56	2.776	3.684	15.396	0.427	0.0663130140784	0.0002	.	0.0005	0	0.0003	0	0	0.0008	0	0.0002	0.000414	64	154602	rs201281365	0.0004	0.0004	0.0003	0.0004	0.0017	0.0003	0.0003	0.0009	0.0007	0	0.0004	0.0094	0	1.872e-05	0.0017	0.0002	0.0009	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0003	0.0003	0.0002	0.0002	2.415e-05	0	0.0004	0.0101	0	0	0	0.0003	0.0010	0.0002	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000278	0.46590	D	0.095839	0.999988	0.54805	D	2.85	0.82803	M	0.86	0.46777	T	-7.77	0.95842	D	0.773	0.77039	-0.2281	0.76937	T	0.360	0.72208	T	10	0.09970924	0.18111	T	0.066313	0.69838	D	0.427	0.73445	.	.	0.745173353745	0.74287	0.8009708055997322	0.80051	0.423969410198	0.42838	0.438875257969	0.30423	T	0.674546	0.90377	D	-0.0933268	0.37527	T	-0.0687047	0.65719	T	0.241760488814591	0.22500	T	0.890711	0.62461	D	0.83576214	0.86306	0.5373998	0.73267	0.83576214	0.86307	0.5373998	0.73267	-10.108	0.74556	D	.	.	0.384	0.58646	A	.	.	5.088733	0.84970	28.5	0.99937260660035798	0.99661	0.92529	0.55925	D	AEFBI	0.414017	0.48345	N	0.762580879970293	0.83722	8.092	0.680493987392373	0.80900	7.402725	0.999994260036501	0.74766	0.75658	0.98901	0	0.743671	0.97443	0	0.65145	0.50148	0	0.656636	0.63459	0	.	.	5.56	5.56	0.83678	3.986000	0.56647	5.794000	0.49890	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.306000	0.24642	0.0:1.0:0.0:0.0	15.396	0.74510	923	0.18507	Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1511.98	33	chr21	33349218	.	C	T	1511.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.40;ReadPosRankSum=0.187;SOR=0.759	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1077	20	0	1	0
chr21	33511272	33511272	C	T	exonic	GART	.	nonsynonymous SNV	GART:NM_000819:exon17:c.G2294A:p.S765N	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.0	B	0.001	B	0.176	N	1.000	N	1.11	L	2.26	T	-1.009	T	0.027	T	0.048	1.150	9.684	2.26	0.687	0.028	4.549	0.043	0.00820754106356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.272	0.15930	T	0.306	0.19972	T	0.0	0.02946	B	0.001	0.04355	B	0.176279	0.17229	N	0.636881	0.999991	0.08975	N	1.28	0.32218	L	2.26	0.17596	T	-0.39	0.13611	N	0.063	0.03502	-1.0089	0.27261	T	0.027	0.11485	T	10	0.10317451	0.18953	T	0.008208	0.21750	T	0.043	0.11576	0.407	0.44066	0.28297238246	0.27903	0.48847452550041665	0.48767	0.0932375999117	0.10540	0.283710420132	0.08014	T	0.033211	0.22818	T	-0.378459	0.03186	T	-0.781407	0.02411	T	0.0548483468592167	0.06333	T	0.865913	0.56597	D	0.060211282	0.12327	0.058340997	0.10762	0.060211282	0.12327	0.058340997	0.10762	-5.351	0.40445	T	.	.	0.071	0.04681	B	.;.;.	.;.;.	0.876676	0.12494	9.028	0.95456144974075263	0.26983	0.12858	0.17522	N	AEFBHCI	0.057872	0.10816	N	-0.601692097044202	0.18894	0.9845847	-0.516177651924343	0.21714	1.175958	0.999999999508274	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.6	2.26	0.27418	0.041000	0.13813	0.195000	0.15787	0.599000	0.40250	0.027000	0.20232	0.008000	0.19753	0.661000	0.32996	0.0:0.4465:0.1676:0.386	4.549	0.11505	929	0.16858	PurM-like, C-terminal domain;PurM-like, C-terminal domain;PurM-like, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	882.98	35	chr21	33511272	.	C	T	882.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.03;DP=797;ExcessHet=0.0000;FS=4.350;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.39;ReadPosRankSum=0.410;SOR=1.179	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1093	20	0	1	0
chr21	33511357	33511357	C	T	exonic	GART	.	nonsynonymous SNV	GART:NM_000819:exon17:c.G2209A:p.A737T	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.955	D	0.000	D	1.000	D	3.1	M	2.26	T	-0.783	T	0.161	T	0.861	5.027	29.7	5.44	2.573	7.270	19.267	0.316	0.0320678778734	7.7e-05	.	.	.	.	.	.	.	.	.	.	.	.	rs372288271	2.052e-05	2.052e-05	1.633e-05	2.475e-05	0.0017	1.456e-05	1.264e-05	0.0009	0.0007	0	6.708e-05	0	0	3.744e-05	0.0017	1.079e-05	1.656e-05	2.319e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.415e-05	2.18e-06	8.2e-07	.	.	2.415e-05	0	0	0	0	0	0	1.47e-05	0	0	0.07	0.35349	T	0.019	0.59159	D	1.0	0.90584	D	0.955	0.69585	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.965	0.85198	M	2.26	0.17596	T	-2.9	0.60827	D	0.768	0.85766	-0.7828	0.56144	T	0.161	0.49648	T	10	0.8611113	0.85332	D	0.032068	0.53992	D	0.316	0.63799	.	.	0.740075850574	0.73774	0.9107133635467993	0.91045	0.507961771772	0.48972	0.517434418201	0.41265	T	0.181856	0.53367	T	0.0971474	0.63984	D	-0.00137688	0.70247	D	0.963827073574066	0.66773	D	0.955304	0.82980	D	0.93636066	0.94877	0.88719034	0.94068	0.93636066	0.94878	0.88719034	0.94069	-10.577	0.77288	D	.	.	0.263	0.50898	B	.;.;.	.;.;.	4.871543	0.79818	27.2	0.99887218163676061	0.96204	0.96150	0.67762	D	AEFBHCI	0.871313	0.79264	D	0.854443806426256	0.89360	9.939684	0.787604690291222	0.88919	9.766618	0.999999999999794	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	7.350000	0.78633	7.658000	0.64072	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.129000	0.19529	0.0:1.0:0.0:0.0	19.267	0.93983	929	0.16858	PurM-like, C-terminal domain;PurM-like, C-terminal domain;PurM-like, C-terminal domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	983.98	35	chr21	33511357	.	C	T	983.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.849;DP=817;ExcessHet=0.0000;FS=1.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=-9.970e-01;SOR=0.919	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1093	20	0	1	0
chr21	33550358	33550358	C	T	exonic	SON	.	nonsynonymous SNV	SON:NM_001291411:exon3:c.C1127T:p.S376L	ZTTK syndrome, Autosomal dominant	.	432	1089	1	0	0	1	0.000458926	.	.	1605314	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.04	D	0.997	D	0.593	P	0.025	N	1.000	N	0.695	N	2.66	T	-1.080	T	0.036	T	0.295	3.453	17.69	5.43	2.710	0.527	15.097	0.072	0.00709136015814	0.0002	0.000199681	9.899e-05	0.0002	0	0.0001	0	0.0001	0	0.0001	7.68e-05	2	26028	rs199778047	7.525e-05	7.524e-05	6.534e-05	8.526e-05	0.0010	6.382e-05	5.938e-05	0.0005	0.0003	0.0002	0.0002	0	2.519e-05	0	0.0010	5.845e-05	0.0001	0.0002	0.0003	0.0003	0.0002	0.0003	0.0021	0.0002	0.0002	0.0015	0.0013	0.0001	0	0.0021	0	0	0	0	8.82e-05	0	0	0.005	0.63226	D	0.08	0.54934	T	0.994	0.70673	D	0.389	0.50536	B	0.025322	0.26107	N	0.277107	1	0.81001	D	0.895	0.22405	L	2.66	0.14531	T	-1.93	0.55501	N	0.138	0.17691	-1.0804	0.07272	T	0.036	0.15596	T	10	0.059102684	0.07052	T	0.007091	0.18786	T	0.072	0.21020	.	.	0.171220215726	0.16700	0.18396613394154301	0.18315	0.163228410601	0.18421	0.469857811928	0.34660	T	0.03321	0.22818	T	-0.403499	0.02196	T	-0.515653	0.20737	T	0.0278797718535335	0.01671	T	0.907909	0.67446	D	0.1881237	0.40297	0.15939099	0.37176	0.1881237	0.40297	0.15939099	0.37175	-4.295	0.28107	T	0.2552095476572103	0.34509	0.088	0.13783	B	.;.;.	.;.;.	3.788433	0.54517	23.5	0.99855957807952944	0.93458	0.86050	0.45260	D	AEFDBHCI	0.164488	0.29088	N	0.309806107743427	0.56652	3.830132	0.387987092586735	0.60822	4.274429	0.999999999588909	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.43	5.43	0.79006	0.067000	0.14378	1.800000	0.28874	0.599000	0.40250	0.738000	0.29006	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	15.097	0.71912	870	0.31527	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2056.98	34	chr21	33550358	.	C	T	2056.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.177;DP=914;ExcessHet=0.0000;FS=9.672;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=1.11;SOR=0.298	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1021	20	0	1	0
chr21	33550901	33550901	C	T	exonic	SON	.	nonsynonymous SNV	SON:NM_001291411:exon3:c.C1670T:p.A557V	ZTTK syndrome, Autosomal dominant	.	422	1094	5	1	0	7	0.00318907	.	.	742600	SON-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.58	T	1.0	D	0.994	D	0.000	D	1.000	N	0.345	N	2.25	T	-1.060	T	0.061	T	0.277	2.691	14.96	4.31	2.610	-0.196	13.343	0.135	.	0.0002	0.00279553	0.0021	0.0002	0.0002	0.0003	0	0.0003	0.0011	0.0137	0.0018305	283	154602	rs201936865	0.0009	0.0009	0.0006	0.0013	0.0123	0.0009	0.0009	0.0117	0.0114	5.988e-05	0.0002	0.0010	0.0003	0	0.0019	0.0002	0.0012	0.0123	0.0006	0.0006	0.0004	0.0007	0.0133	0.0005	0.0004	0.0107	0.0097	9.652e-05	0	6.544e-05	0.0020	0.0002	0	0	0.0001	0.0005	0.0133	0.002	0.72154	D	0.03	0.54159	D	1.0	0.90584	D	0.987	0.82059	D	0.000023	0.55875	D	0.000000	1	0.81001	D	0.805	0.20218	L	2.25	0.19990	T	-1.53	0.46842	N	0.495	0.53357	-1.0602	0.11706	T	0.061	0.25310	T	10	0.006695986	0.00152	T	.	.	.	0.135	0.36572	.	.	0.15499578495	0.15088	0.13737053058666562	0.13661	0.243769190968	0.26884	0.64146053791	0.58772	T	0.027388	0.20067	T	-0.517308	0.00456	T	-0.504822	0.21848	T	0.028522628575415	0.01765	T	0.79772	0.47665	T	0.22092666	0.44658	0.22040382	0.46814	0.20161155	0.42177	0.24920847	0.50486	-4.124	0.25643	T	0.4461515480352679	0.53078	0.175	0.39881	B	.;.;.	.;.;.	4.355081	0.66921	25.0	0.99842129746692609	0.92229	0.18251	0.20183	N	AEFDGBHCI	0.072076	0.14372	N	0.0568385435736507	0.44458	2.719464	0.0585064424871656	0.42484	2.570484	0.99999999385524	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.26	4.31	0.50718	-0.303000	0.08249	-0.586000	0.08350	0.549000	0.26987	0.000000	0.06391	0.987000	0.30940	0.985000	0.61073	0.0:0.8401:0.1599:0.0	13.343	0.59999	870	0.31527	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	2156.98	34	chr21	33550901	.	C	T	2156.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.21;DP=873;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.44;ReadPosRankSum=-2.750e-01;SOR=0.733	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1021	20	0	1	0
chr21	33624730	33624730	C	T	exonic	CRYZL1	.	nonsynonymous SNV	CRYZL1:NM_145858:exon3:c.G97A:p.V33M,	.	.	472	1045	5	0	0	5	0.00238663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.595	H	0.04	T	0.295	D	0.540	D	0.74	3.905	19.85	5.05	2.503	4.336	14.294	0.524	0.0604570523149	.	0.000599042	0.0005	0	0.0002	0	0	1.501e-05	0.0022	0.0034	0.0004204	65	154602	rs550793039	0.0002	0.0002	8.958e-05	0.0003	0.0031	0.0002	0.0002	0.0028	0.0027	0	0	0	0	0	0.0009	6.32e-06	0.0002	0.0031	0.0002	0.0002	1.285e-05	0.0003	0.0046	0.0001	8.716e-05	0.0031	0.0026	0	0	0	0	0	0	0	1.47e-05	0	0.0046	0.0	0.91255	D	0.002	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.998378	0.44834	D	4.21	0.97867	H	0.04	0.62051	T	-2.38	0.54546	N	0.683	0.76111	0.295	0.87471	D	0.540	0.83032	D	10	0.02027747	0.00465	T	0.060457	0.68006	D	0.524	0.79825	0.714	0.84962	0.808572949802	0.80677	0.689361115715992	0.68876	0.816151237162	0.66945	0.624116718769	0.56311	T	0.220575	0.63621	T	-0.130307	0.31446	T	0.0366822	0.72712	D	0.35811591824001	0.27336	T	0.963104	0.86259	D	0.5220749	0.68378	0.40280864	0.64754	0.5220749	0.68379	0.40280864	0.64754	-10.128	0.74675	D	.	.	0.690	0.77339	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.411941	0.68264	25.2	0.99861000202201422	0.93911	0.91677	0.54029	D	AEFBI	0.497112	0.53177	N	0.857187512908953	0.89513	10.00295	0.761634437763026	0.87026	9.081296	0.507507480894516	0.20993	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.05	5.05	0.67566	4.297000	0.58858	7.633000	0.62825	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.0:1.0:0.0:0.0	14.294	0.65855	853	0.34956	Polyketide synthase, enoylreductase domain;Polyketide synthase, enoylreductase domain;Polyketide synthase, enoylreductase domain;.;Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	695.98	34	chr21	33624730	.	C	T	695.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.368;DP=761;ExcessHet=0.0000;FS=3.530;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=-4.790e-01;SOR=1.185	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1265	20	0	1	0
chr21	34370648	34370648	T	C	exonic	KCNE2	.	nonsynonymous SNV	KCNE2:NM_172201:exon2:c.T170C:p.I57T,	Atrial fibrillation, familial, 4;Long QT syndrome 6, Autosomal dominant	.	0	1494	28	0	0	28	0.00928382	.	.	21093	not_provided|Cardiac_arrhythmia|Long_QT_syndrome_6|Atrial_fibrillation,_familial,_4|Cardiovascular_phenotype|KCNE2-related_disorder	MedGen:C3661900|EFO:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811|MONDO:MONDO:0013370,MedGen:C3150953,OMIM:613693,Orphanet:101016,Orphanet:768|MONDO:MONDO:0012677,MedGen:C1862394,OMIM:611493|MedGen:CN230736|MedGen:CN239320	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.918	D	0.000	D	0.999	D	1.5	L	-3.06	D	0.631	D	0.747	D	0.982	4.449	23.7	5.66	2.147	6.820	15.564	0.863	0.154582131025	0.0004	0.000798722	0.0009	0.0002	0.0010	0	0.0002	0.0011	0.0055	0.0009	0.0008603	133	154602	rs74315448	0.0007	0.0007	0.0006	0.0007	0.0146	0.0006	0.0006	0.0121	0.0111	0.0007	0.0019	0.0012	0	3.744e-05	0.0146	0.0005	0.0016	0.0011	0.0007	0.0007	0.0008	0.0006	0.0027	0.0006	0.0005	0.0020	0.0018	0.0002	0	0.0027	0.0012	0	9.413e-05	0.0238	0.0005	0.0038	0.0006	0.002	0.72154	D	0.008	0.67890	D	0.999	0.77913	D	0.918	0.65394	D	0.000018	0.62929	D	0.065041	0.999357	0.46766	A	2.43	0.70455	M	-3.06	0.92457	D	-3.39	0.66896	D	0.966	0.97643	0.631	0.92307	D	0.747	0.91369	D	10	0.32147172	0.49510	T	0.154582	0.83566	D	0.863	0.95839	.	.	0.958984558582	0.95854	0.8779840351295785	0.87765	0.569522344587	0.53130	0.822051405907	0.85343	D	0.898239	0.97984	D	0.125338	0.66905	D	0.400479	0.92130	D	0.0407778404361376	0.03832	T	0.831417	0.49863	T	0.56191885	0.70616	0.6588679	0.80018	0.5716259	0.71151	0.679703	0.81183	-3.971	0.23368	T	0.3489375475400014	0.44627	0.196	0.41798	B	.	.	4.601744	0.72891	25.9	0.99858453994482799	0.93729	0.96130	0.67670	D	AEFDGBIJ	0.746935	0.68915	D	0.659055776744708	0.76957	6.582887	0.666716435196437	0.79861	7.172661	0.999999999989957	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.66	5.66	0.87293	6.808000	0.74994	7.790000	0.68871	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.0:1.0	15.564	0.76018	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	9568.98	33	chr21	34370648	.	T	C	9568.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=1574;ExcessHet=0.0000;FS=1.090;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=0.138;SOR=0.604	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1452	20	0	1	0
chr21	34370789	34370789	A	G	exonic	KCNE2	.	nonsynonymous SNV	KCNE2:NM_172201:exon2:c.A311G:p.E104G,	Atrial fibrillation, familial, 4;Long QT syndrome 6, Autosomal dominant	.	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.008	B	0.009	B	0.002	N	0.944	D	1.39	L	-3.06	D	-0.002	T	0.602	D	0.236	3.284	17.03	3.15	0.962	3.914	6.999	0.301	0.0695537225269	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs113659353	2.736e-06	2.736e-06	0	5.5e-06	2.987e-05	6.4e-07	4.3e-07	.	.	2.987e-05	0	0	0	0	0	0	4.967e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.034	0.52727	D	0.008	0.14655	B	0.009	0.14300	B	0.001589	0.38554	N	0.181218	0.94431	0.37444	D	2.25	0.63811	M	-3.06	0.92457	D	-2.81	0.59389	D	0.185	0.20129	-0.0024	0.82206	T	0.602	0.85847	D	10	0.22957742	0.39889	T	0.069554	0.70760	D	0.301	0.62179	0.344	0.33788	0.90077798492	0.89979	0.6816867385461418	0.68107	0.136271015109	0.15368	0.322883605957	0.13857	T	0.525079	0.83462	D	0.0537718	0.58826	T	-0.160537	0.58304	T	0.976049780845642	0.71204	D	0.553245	0.19112	T	0.1419579	0.32688	0.24137196	0.49533	0.1419579	0.32688	0.24137196	0.49532	-4.369	0.29133	T	.	.	0.083	0.09288	B	.	.	3.024659	0.40491	21.2	0.99758278504333131	0.84851	0.95802	0.66216	D	AEFBI	0.453810	0.50679	N	-0.158745613677541	0.34863	1.995441	-0.0242172263605476	0.38625	2.27825	0.999955470877274	0.48110	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.66	3.15	0.35301	3.914000	0.56114	6.801000	0.56627	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.7753:0.148:0.0767:0.0	6.999	0.23978	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	5848.98	33	chr21	34370789	.	A	G	5848.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.344e+00;DP=1192;ExcessHet=0.0000;FS=1.803;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=-7.920e-01;SOR=0.869	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1452	20	0	1	0
chr21	34449540	34449540	C	T	exonic	KCNE1	.	nonsynonymous SNV	KCNE1:NM_001127670:exon2:c.G95A:p.R32H	Jervell and Lange-Nielsen syndrome 2, Autosomal recessive;Long QT syndrome 5, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	136431	Jervell_and_Lange-Nielsen_syndrome_2|Congenital_long_QT_syndrome|not_provided|Long_QT_syndrome|Cardiovascular_phenotype|Long_QT_syndrome_5|not_specified	MONDO:MONDO:0012871,MedGen:C2676723,OMIM:612347,Orphanet:768,Orphanet:90647|MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768|MedGen:C3661900|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN230736|MONDO:MONDO:0013372,MedGen:C1867904,OMIM:613695,Orphanet:101016,Orphanet:768|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.01	B	0.01	B	0.035	N	0.942	N	2.3	M	-3.59	D	0.173	D	0.754	D	0.474	4.635	25.4	2.91	1.161	1.053	8.019	0.386	0.146056677478	.	.	4.958e-05	0	0	0	0	6.019e-05	0	0.0001	3.88e-05	6	154602	rs17857111	5.615e-05	5.554e-05	5.354e-05	5.878e-05	0.0009	4.348e-05	3.844e-05	0.0002	0.0001	0	0	0.0001	0	0	0.0009	4.453e-05	5.719e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.34800	T	0.534	0.09965	T	0.01	0.15535	B	0.01	0.14941	B	0.034556	0.24756	N	0.335667	0.941872	0.26767	N	2.56	0.74772	M	-3.59	0.94975	D	-0.47	0.15178	N	0.064	0.16447	0.173	0.85449	D	0.754	0.91623	D	10	0.14678806	0.27825	T	0.146057	0.82821	D	0.386	0.70276	0.362	0.36711	0.92606280091	0.92531	0.5202919222444429	0.51952	0.0997905954404	0.11272	0.31505382061	0.12672	T	0.638275	0.88875	D	-0.205575	0.20006	T	-0.296402	0.45103	T	0.101660220118015	0.12539	T	0.652935	0.26315	T	0.038336053	0.05089	0.041685455	0.04796	0.033013634	0.03438	0.039334483	0.04003	-3.881	0.22018	T	0.16025668280627664	0.19539	0.095	0.14842	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.618923	0.34026	19.51	0.9993260304993582	0.99439	0.59812	0.31019	D	AEFBI	0.210613	0.33648	N	-0.226006622171145	0.32069	1.804737	-0.160374169687292	0.33011	1.883902	0.0231472088241502	0.13485	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.86	2.91	0.32903	1.120000	0.30885	0.500000	0.18986	0.549000	0.26987	0.411000	0.26257	0.157000	0.23230	0.695000	0.33988	0.2219:0.6916:0.0:0.0864	8.019	0.29558	899	0.25060	.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	5005.22	33	chr21	34449540	.	C	T	5005.22	.	AC=2;AF=0.067;AN=30;DP=887;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6912;MLEAC=3;MLEAF=0.100;MQ=42.67;QD=31.48;SOR=1.639	GT:AD:DP:GQ:PL	./.:33,0:33:0:0,0,0	14	1	0	6
chr21	34614827	34614827	T	C	exonic	RCAN1	.	nonsynonymous SNV	RCAN1:NM_004414:exon1:c.A185G:p.Q62R,	.	.	380	1139	3	0	0	3	0.00131521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.0	B	0.002	B	0.684	N	1.000	D	-0.55	N	.	.	-1.078	T	0.059	T	0.058	0.795	8.185	2.1	0.574	0.498	6.304	0.078	0.352371672104	.	0.00119808	5.636e-05	0	0	0	0	0	0	0.0001	4.53e-05	7	154602	rs528556911	6.192e-05	9.029e-05	3.986e-05	8.445e-05	0.0011	5.1e-05	4.691e-05	0.0005	0.0003	0.0003	5.959e-05	0	0.0001	0	0.0011	4.565e-05	0.0002	0.0001	7.31e-05	7.227e-05	5.197e-05	9.52e-05	0.0012	4.015e-05	3.159e-05	0.0005	0.0003	0	0	0	0	0.0012	0	0	5.933e-05	0	0.0002	0.193	0.20912	T	0.383	0.15842	T	0.0	0.02946	B	0.002	0.06944	B	0.683929	0.10235	N	0.854787	0.987265	0.24534	N	0.205	0.09354	N	.	.	.	-0.78	0.21644	N	0.072	0.04547	-1.0782	0.07701	T	0.059	0.24539	T	9	0.015578955	0.00327	T	0.352372	0.92302	D	0.078	0.22779	0.474	0.55020	0.082315109003	0.07666	.	.	0.48447268662	0.47353	0.838611245155	0.87883	D	0.274951	0.64747	T	-0.252364	0.13810	T	-0.60028	0.12788	T	0.0196221726740328	0.00665	T	0.531447	0.17660	T	0.10386237	0.24551	0.09591569	0.22769	0.10386237	0.24550	0.09591569	0.22768	-3.332	0.14153	T	.	.	0.077	0.06387	B	.	.	2.772777	0.36401	20.2	0.80761896155542157	0.13356	0.00662	0.02865	N	AEFDGBHCI	0.089112	0.18063	N	-0.771476851365781	0.14058	0.6971962	-0.625457403382101	0.18840	1.008225	0.9999986752979	0.74766	0.72623	0.87236	0	0.516746	0.08562	0	0.594344	0.31042	0	0.581474	0.35302	0	.	.	4.47	2.1	0.26226	0.517000	0.22539	3.047000	0.36105	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.21:0.0:0.79	6.304	0.20335	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	735.98	36	chr21	34614827	.	T	C	735.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.570e-01;DP=782;ExcessHet=0.0000;FS=0.874;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.81;ReadPosRankSum=0.478;SOR=0.869	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,998	20	0	1	0
chr21	36246628	36246628	G	A	exonic	DOP1B	.	nonsynonymous SNV	DOP1B:NM_001320714:exon19:c.G4648A:p.D1550N	.	.	434	1084	4	0	0	4	0.00184162	.	.	3247711	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.999	D	0.000	D	1.000	D	2.535	M	0.76	T	-0.408	T	0.349	T	0.2	4.986	29.2	5.86	2.778	9.357	20.177	0.328	0.0276248879961	0.0002	.	0.0002	0	0.0003	0	0	0.0002	0	0.0006	0.0001811	28	154602	rs138558529	0.0001	0.0001	0.0001	0.0002	0.0010	0.0001	0.0001	0.0005	0.0005	0	0.0003	3.826e-05	0	0	0.0010	0.0001	0.0002	0.0007	5.914e-05	5.91e-05	6.423e-05	5.381e-05	0.0008	3.077e-05	2.21e-05	0.0003	0.0002	0	0.0011	0	0	0	0	0	5.879e-05	0	0.0008	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.645	0.77386	M	0.76	0.49919	T	-3.74	0.71042	D	0.747	0.74644	-0.4079	0.71777	T	0.349	0.71344	T	10	0.62138194	0.67997	D	0.027625	0.50416	D	0.328	0.65026	.	.	0.689615988429	0.68695	0.5810519021200039	0.58034	0.714330807097	0.61881	0.676035404205	0.63701	T	0.234358	0.60137	T	-0.319984	0.06898	T	-0.336617	0.40726	T	0.240035337655121	0.22421	T	0.927207	0.73169	D	0.63442624	0.74534	0.66146135	0.80162	0.63442624	0.74535	0.66146135	0.80163	-8.048	0.61397	D	.	.	0.34	0.55909	A	.	.	4.942835	0.81587	27.6	0.99927489235890288	0.99163	0.97058	0.72445	D	AEFDGBCIJ	0.877617	0.80238	D	0.959064967703674	0.94338	12.68133	0.94117795124582	0.97130	15.63479	1.0	0.98316	0.651	0.46895	0	0.708844	0.79440	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.86	5.86	0.93936	9.483000	0.96898	11.907000	0.99503	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	20.177	0.98183	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2654.98	37	chr21	36246628	.	G	A	2654.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.108;DP=1002;ExcessHet=0.0000;FS=1.621;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.91;ReadPosRankSum=0.065;SOR=0.613	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr21	36292120	36292120	A	G	exonic	DOP1B	.	nonsynonymous SNV	DOP1B:NM_001320714:exon36:c.A6532G:p.I2178V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.000	N	0.939	N	-1.595	N	1.09	T	-1.028	T	0.028	T	0.09	-0.308	2.532	4.31	1.329	4.916	13.661	0.076	0.0122943492025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.921	0.02864	T	0.0	0.02946	B	0.0	0.01387	B	0.000003	0.62929	N	0.059164	0.939312	0.26839	N	-1.51	0.00497	N	1.09	0.39223	T	0.3	0.04091	N	0.069	0.04188	-1.0275	0.21266	T	0.028	0.11838	T	10	0.0469459	0.03948	T	0.012294	0.30730	T	0.076	0.22200	0.582	0.70861	0.250039746154	0.24611	0.21661415817129256	0.21577	0.146635249538	0.16552	0.309303045273	0.11802	T	0.033918	0.23112	T	-0.285033	0.10141	T	-0.647207	0.09151	T	0.339290082454681	0.26595	T	0.759024	0.38317	T	0.06269728	0.13124	0.073514916	0.15982	0.06269728	0.13124	0.073514916	0.15982	-2.431	0.05326	T	.	.	0.069	0.02960	B	.	.	1.903110	0.24170	16.30	0.7146083946175128	0.09637	0.03038	0.07927	N	AEBI	0.037473	0.05159	N	-0.733609680907834	0.15082	0.7569646	-0.423031196366054	0.24323	1.331285	0.999916580472153	0.45857	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.23	4.31	0.50718	4.183000	0.58114	9.731000	0.81400	-0.166000	0.11466	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0764:0.0:0.9236:0.0	13.661	0.61839	930	0.16408	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	797.98	34	chr21	36292120	.	A	G	797.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.365;DP=1033;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.67;ReadPosRankSum=1.43;SOR=0.653	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1193	20	0	1	0
chr21	36369848	36369848	G	A	exonic	MORC3	.	nonsynonymous SNV	MORC3:NM_001320445:exon14:c.G2267A:p.S756N	.	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.011	B	0.014	B	0.603	N	1.000	N	0.97	L	2.59	T	-1.046	T	0.032	T	0.072	1.696	11.63	-5.34	-1.019	-0.506	24.772	0.085	0.00372032936774	.	.	7.49e-05	0	0	0	0.0002	7.534e-05	0	0.0002	6.47e-05	10	154602	rs757924042	3.012e-05	3.01e-05	2.861e-05	3.165e-05	0.0017	2.283e-05	2.034e-05	0.0009	0.0007	0	0	0	0	0	0.0017	2.248e-05	3.312e-05	8.122e-05	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.086	0.32610	T	0.486	0.11691	T	0.011	0.15914	B	0.014	0.16862	B	0.602801	0.10942	N	0.831646	1	0.08975	N	2.045	0.56016	M	2.59	0.13317	T	-0.99	0.26200	N	0.103	0.08646	-1.0465	0.15389	T	0.032	0.13635	T	10	0.048582226	0.04327	T	0.00372	0.08620	T	0.085	0.24743	0.15	0.05339	0.286597616719	0.28274	0.05164462920153917	0.05106	0.172711031265	0.19441	0.307570368052	0.11540	T	0.121026	0.44369	T	-0.480239	0.00737	T	-0.724952	0.04560	T	0.0199817273198078	0.00699	T	0.676632	0.28519	T	0.0810129	0.18593	0.13494971	0.32325	0.0810129	0.18592	0.13494971	0.32324	-5.523	0.42082	T	.	.	0.087	0.11076	B	.	.	0.451806	0.08217	4.957	0.87602656216585228	0.17346	0.09927	0.15570	N	AEFBCI	0.039104	0.05634	N	-1.18624990215822	0.05207	0.2368408	-1.21551703312652	0.05660	0.270305	0.991820305676819	0.32621	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.56	-5.34	0.02496	-0.529000	0.06273	0.314000	0.17114	-0.148000	0.12190	0.000000	0.06391	0.015000	0.20450	0.989000	0.64315	0.0:0.7878:0.1386:0.0736	24.772	0.99992	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2733.98	43	chr21	36369848	.	G	A	2733.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.160e-01;DP=960;ExcessHet=0.0000;FS=0.492;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=-8.610e-01;SOR=0.764	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr21	36756630	36756630	C	T	exonic	HLCS	.	nonsynonymous SNV	HLCS:NM_001352514:exon10:c.G2362A:p.V788M	Holocarboxylase synthetase deficiency, Autosomal recessive	YES	0	1501	21	0	0	21	0.00694674	.	.	200364	not_provided|Holocarboxylase_synthetase_deficiency	MedGen:C3661900|MONDO:MONDO:0009666,MedGen:C0268581,OMIM:253270,Orphanet:79242	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.35	T	0.622	P	0.31	B	0.024	N	1.000	D	1.69	L	-4.24	D	0.487	D	0.764	D	0.264	1.349	10.43	1.63	0.382	0.921	9.922	0.415	.	0.0032	0.00199681	0.0048	0.0008	0.0016	0	0.0160	0.0060	0.0044	0.0027	0.0043725	676	154602	rs150665851	0.0043	0.0043	0.0043	0.0042	0.0042	0.0042	0.0042	0.0041	0.0040	0.0007	0.0017	0.0090	2.519e-05	0.0143	0.0019	0.0042	0.0040	0.0030	0.0038	0.0038	0.0034	0.0042	0.0045	0.0035	0.0034	0.0041	0.0039	0.0007	0.0318	0.0024	0.0075	0	0.0119	0	0.0045	0.0033	0.0025	0.003	0.68238	D	0.017	0.60337	D	0.622	0.39964	P	0.31	0.41396	B	0.023998	0.26342	N	0.344786	0.609304	0.32607	D	1.935	0.51832	L	-4.24	0.97030	D	-1.16	0.29727	N	0.633	0.64648	0.487	0.90361	D	0.764	0.91984	D	10	0.009711772	0.00218	T	.	.	.	0.415	0.72555	.	.	0.931535456389	0.93083	0.6482827120664255	0.64764	0.234146051628	0.25950	0.364446103573	0.20031	T	0.180305	0.53159	T	-0.226473	0.17117	T	-0.0963082	0.63683	T	0.00652403965040004	0.00073	T	0.865613	0.56501	D	0.06632385	0.14260	0.095112324	0.22542	0.068587825	0.14955	0.11685235	0.28208	-8.188	0.62344	D	0.4297220528201807	0.51706	0.183	0.39647	B	.;.;.	.;.;.	1.824112	0.23182	15.92	0.99360019055759596	0.60946	0.29608	0.23866	N	AEFDBHCIJ	0.111015	0.21994	N	-0.671901752424891	0.16825	0.8606247	-0.771941803288201	0.15184	0.7973016	0.999963299004015	0.48965	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.695668	0.68540	0	.	.	4.74	1.63	0.22882	0.957000	0.28812	0.955000	0.22950	-0.180000	0.10397	0.288000	0.25215	0.020000	0.20764	0.005000	0.06747	0.2789:0.5863:0.1347:0.0	9.922	0.40639	950	0.11238	Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL), catalytic domain;Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL), catalytic domain;Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL), catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1083.98	45	chr21	36756630	.	C	T	1083.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.871;DP=865;ExcessHet=0.0000;FS=2.646;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=0.650;SOR=0.471	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1406	20	0	1	0
chr21	37195684	37195684	G	A	exonic	TTC3	.	nonsynonymous SNV	TTC3:NM_001353938:exon32:c.G3061A:p.E1021K	.	.	427	1091	4	0	0	4	0.00182983	.	.	728908	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.9	T	0.001	B	0.0	B	0.617	N	1.000	N	-0.49	N	3.17	T	-1.008	T	0.019	T	0.44	-0.005	3.991	-9.44	-1.862	-3.876	8.235	0.021	0.00360762820522	0.0032	0.00279553	0.0027	0.0011	0.0048	0	0.0012	0.0031	0	0.0026	0.0025485	394	154602	rs138008526	0.0046	0.0046	0.0047	0.0046	0.0054	0.0045	0.0045	0.0053	0.0052	0.0009	0.0037	0.0003	0	0.0016	0.0017	0.0054	0.0040	0.0025	0.0028	0.0028	0.0030	0.0025	0.0044	0.0025	0.0024	0.0040	0.0038	0.0010	0	0.0034	0.0003	0	0.0008	0	0.0044	0.0019	0.0027	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.0	0.01387	B	0.616939	0.05733	N	1.254910	1	0.08975	N	0.235	0.09667	N	3.17	0.07599	T	-0.39	0.13611	N	0.039	0.02559	-1.0077	0.27634	T	0.019	0.07893	T	10	0.003068477	0.00051	T	0.003608	0.08278	T	0.099	0.28413	.	.	0.214338557667	0.21045	0.22078989386746364	0.21993	0.100001510796	0.11303	0.20738145709	0.00705	T	0.011327	0.10120	T	-0.582074	0.00187	T	-0.60807	0.12142	T	0.00448366906002296	0.00048	T	0.587941	0.21519	T	0.01894353	0.00419	0.027596874	0.00925	0.01894353	0.00418	0.027596874	0.00925	-4.519	0.31136	T	.	.	0.071	0.03887	B	.;.;.	.;.;.	-1.881199	0.00132	0.002	0.70692747042833903	0.09379	0.00248	0.01370	N	AEFDBI	0.026525	0.02006	N	-1.4570736025618	0.02161	0.09515214	-1.64054273714929	0.01426	0.06445449	0.999999990561055	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.714379	0.83352	0	.	.	4.72	-9.44	0.00509	-3.580000	0.00474	-9.680000	0.00790	-1.595000	0.00900	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5857:0.2907:0.1236:0.0	8.235	0.30780	896	0.25515	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1172.98	33	chr21	37195684	.	G	A	1172.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.15;DP=776;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.23;ReadPosRankSum=1.14;SOR=0.701	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1050	20	0	1	0
chr21	38818484	38818484	C	A	exonic	ETS2	.	nonsynonymous SNV	ETS2:NM_005239:exon7:c.C649A:p.L217I	.	.	421	1086	14	1	0	16	0.00731261	.	.	717205	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.79	T	0.966	D	0.505	P	0.084	N	0.994	D	2.125	M	2.48	T	-0.826	T	0.122	T	0.239	2.120	13.05	5.28	1.609	2.340	12.211	0.128	.	0.0082	0.00339457	0.0073	0.0014	0.0054	0	0.0024	0.0113	0.0088	0.0016	0.0070439	1089	154602	rs61735785	0.0095	0.0095	0.0098	0.0092	0.0128	0.0093	0.0093	0.0108	0.0107	0.0013	0.0061	0.0137	0	0.0034	0.0128	0.0109	0.0102	0.0015	0.0080	0.0080	0.0085	0.0074	0.0121	0.0076	0.0074	0.0114	0.0111	0.0017	0.0998	0.0075	0.0164	0	0.0021	0.0170	0.0121	0.0095	0.0021	0.583	0.59928	T	0.343	0.22694	T	0.908	0.56202	P	0.277	0.47795	B	0.084067	0.02385	N	2.205300	0.994471	0.42296	D	2.32	0.66415	M	2.48	0.41392	T	-0.36	0.14193	N	0.4	0.44187	-0.8262	0.53544	T	0.122	0.42336	T	10	0.005959183	0.00134	T	.	.	.	0.128	0.35103	.	.	0.469009519116	0.46530	0.5800921711861871	0.57938	0.351789939051	0.37014	0.452042520046	0.32223	T	0.377928	0.74101	T	-0.475445	0.00787	T	-0.445332	0.28213	T	0.0194060962257557	0.00645	T	0.646135	0.25753	T	0.08174536	0.18799	0.045773793	0.06232	0.08174536	0.18798	0.045773793	0.06231	-4.283	0.27938	T	.	.	0.077	0.06295	B	.;.;.	.;.;.	1.887303	0.23973	16.22	0.98906433892934353	0.48290	0.92726	0.56396	D	AEFDGBCI	0.570496	0.57485	D	0.108724464065966	0.46869	2.920821	0.120562674685189	0.45603	2.820458	0.999999997871774	0.74766	0.67177	0.52595	0	0.653731	0.59785	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	6.16	5.28	0.74118	2.587000	0.45793	4.072000	0.41672	0.599000	0.40250	0.982000	0.35529	0.999000	0.35428	0.045000	0.14751	0.1305:0.7322:0.1373:0.0	12.211	0.53688	566	0.70798	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2548.98	36	chr21	38818484	.	C	A	2548.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.852;DP=957;ExcessHet=0.0000;FS=2.258;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.13;ReadPosRankSum=-1.860e-01;SOR=0.555	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,111,1665	20	0	1	0
chr21	39178608	39178608	T	C	exonic	PSMG1	.	nonsynonymous SNV	PSMG1:NM_203433:exon4:c.A433G:p.I145V	.	.	432	1089	1	0	0	1	0.000458926	.	.	728911	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.77	T	0.0	B	0.002	B	0.183	N	1.000	N	0.345	N	1.91	T	-0.981	T	0.009	T	0.042	-0.725	0.894	-4.33	-0.645	-0.985	8.980	0.012	.	0.0082	0.00798722	0.0024	0.0279	0.0003	0	0	4.496e-05	0	6.056e-05	0.0022962	355	154602	rs8131611	0.0008	0.0008	0.0009	0.0007	0.0284	0.0007	0.0007	0.0269	0.0263	0.0284	0.0008	0	0	0	0.0010	2.878e-05	0.0016	0.0001	0.0081	0.0081	0.0084	0.0078	0.0288	0.0077	0.0076	0.0275	0.0269	0.0288	0	0.0014	0	0	0	0	1.47e-05	0.0052	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.182956	0.17053	N	0.628105	0.999912	0.19599	N	-0.055	0.04927	N	1.91	0.23283	T	-0.34	0.12661	N	0.089	0.07535	-0.9810	0.34771	T	0.009	0.03140	T	10	0.0061393976	0.00138	T	.	.	.	0.012	0.01476	.	.	0.0806252709748	0.07271	0.2116315913369507	0.21079	0.170836672464	0.19251	0.325885295868	0.14312	T	0.066264	0.32901	T	-0.709263	0.00032	T	-0.767209	0.02861	T	0.00301760686785274	0.00032	T	0.674733	0.28305	T	0.013160048	0.00051	0.023980008	0.00412	0.013160048	0.00051	0.023980008	0.00412	-2.913	0.09274	T	.	.	0.064	0.03773	B	.;.	.;.	-0.547649	0.01720	0.127	0.49323233301858926	0.04190	0.03298	0.08353	N	AEFBI	0.084452	0.17116	N	-1.22490543308364	0.04641	0.2098872	-1.21405112617455	0.05683	0.2714864	0.999954525553485	0.48110	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.5	-4.33	0.03423	-0.975000	0.03900	-5.714000	0.01621	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.0:0.5005:0.1269:0.3726	8.980	0.35123	956	0.09877	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	677.98	33	chr21	39178608	.	T	C	677.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.732;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=0.390;SOR=0.602	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1082	20	0	1	0
chr21	39196650	39196650	A	G	exonic	BRWD1	.	nonsynonymous SNV	BRWD1:NM_018963:exon41:c.T6419C:p.I2140T	.	.	423	1098	0	1	0	2	0.000909918	.	.	3211971	BRWD1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.75	T	0.0	B	0.0	B	0.071	N	1.000	N	0.95	L	0.71	T	-1.069	T	0.068	T	0.07	-0.095	3.536	-4.26	-0.249	-1.031	2.114	0.043	0.00728647581649	.	0.000998403	0.0013	9.623e-05	0	0	0	0	0.0011	0.0093	0.0010543	163	154602	rs572562994	0.0005	0.0005	0.0003	0.0008	0.0086	0.0005	0.0005	0.0081	0.0079	2.989e-05	0	0	0	0	0.0002	0	0.0004	0.0086	0.0003	0.0003	0.0002	0.0004	0.0085	0.0002	0.0002	0.0064	0.0057	0	0	0	0	0	0	0	0	0	0.0085	0.286	0.15201	T	0.5	0.11968	T	0.0	0.02946	B	0.0	0.01387	B	0.071423	0.02254	N	1.936560	1	0.08975	N	1.245	0.31408	L	0.62	0.53302	T	-0.33	0.13418	N	0.015	0.00407	-1.0689	0.09657	T	0.068	0.27743	T	10	0.0028728843	0.00046	T	0.007286	0.19334	T	0.043	0.11576	0.103	0.01643	0.0934897674506	0.08844	0.015968519745721704	0.01552	0.0805092204128	0.09062	0.248701900244	0.03632	T	0.044783	0.26921	T	-0.619609	0.00111	T	-0.656688	0.08491	T	0.0116806819522908	0.00179	T	0.542646	0.18460	T	0.03670323	0.04566	0.025665604	0.00620	0.03670323	0.04565	0.025665604	0.00619	-2.992	0.10095	T	.	.	0.087	0.29339	B	.;.;.	.;.;.	-0.804126	0.01098	0.049	0.55127164880467583	0.05278	0.00821	0.03316	N	AEDBI	0.017403	0.00454	N	-1.13136372049719	0.06091	0.2795206	-1.14940672599191	0.06778	0.3274497	0.99999209854593	0.74766	0.729952	0.87565	0	0.615513	0.52658	0	0.608884	0.39905	0	0.692231	0.68500	0	.	.	5.38	-4.26	0.03497	-1.012000	0.03759	-2.441000	0.03750	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.971000	0.54645	0.1678:0.2859:0.3808:0.1654	2.114	0.03484	958	0.09170	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2188.98	35	chr21	39196650	.	A	G	2188.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.413;DP=847;ExcessHet=0.0000;FS=4.770;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.31;ReadPosRankSum=0.550;SOR=0.809	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1375	20	0	1	0
chr21	39232467	39232467	G	T	exonic	BRWD1	.	nonsynonymous SNV	BRWD1:NM_018963:exon24:c.C2798A:p.A933E	.	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.004	B	0.005	B	0.485	N	0.665	N	2.015	M	0.65	T	-0.953	T	0.119	T	0.178	0.093	4.501	0.462	-0.143	0.069	3.886	0.051	0.0175232833294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.12837	T	0.862	0.03390	T	0.004	0.12183	B	0.003	0.11217	B	0.484959	0.12123	N	0.769983	0.999747	0.20516	N	0.895	0.22405	L	0.55	0.54728	T	-0.43	0.18248	N	0.122	0.11340	-0.9530	0.40450	T	0.119	0.41604	T	10	0.024886996	0.00701	T	0.017523	0.39251	T	0.051	0.14325	0.172	0.07774	0.176862962021	0.17281	0.4969450474856942	0.49615	0.614016240804	0.55942	0.344553947449	0.17117	T	0.045748	0.27218	T	-0.197009	0.21236	T	-0.520766	0.20217	T	0.0965607911348343	0.11974	T	0.517648	0.16760	T	0.06642313	0.14291	0.058735628	0.10903	0.06642313	0.14290	0.058735628	0.10902	-5.956	0.47550	T	.	.	0.079	0.07365	B	.;.;.	.;.;.	0.697179	0.10657	7.357	0.51328397618096377	0.04543	0.23872	0.22215	N	AEFBI	0.124172	0.24010	N	-1.1962747599345	0.05056	0.2296224	-1.19046701958082	0.06069	0.290983	0.736348009664121	0.23137	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.65	0.462	0.15906	0.125000	0.15577	1.243000	0.25119	-0.180000	0.10397	0.011000	0.18532	0.001000	0.17328	0.970000	0.54328	0.1864:0.0961:0.5234:0.1941	3.886	0.08605	964	0.07719	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1023.98	33	chr21	39232467	.	G	T	1023.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.200e-02;DP=773;ExcessHet=0.0000;FS=3.202;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.65;ReadPosRankSum=-1.342e+00;SOR=1.090	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1253	20	0	1	0
chr21	39511705	39511705	C	T	exonic	GET1-SH3BGR;SH3BGR	.	nonsynonymous SNV	SH3BGR:NM_001317740:exon5:c.C368T:p.A123V	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.003	B	0.001	B	0.863	N	0.999	N	0.695	N	1.81	T	-1.027	T	0.087	T	0.354	0.839	8.388	1.53	0.842	0.340	3.945	0.072	0.024152087836	.	.	0.0002	9.696e-05	8.657e-05	0	0.0003	0.0002	0	6.067e-05	0.0001358	21	154602	rs781284595	0.0001	0.0001	0.0001	0.0001	0.0013	0.0001	0.0001	0.0006	0.0004	2.995e-05	0.0001	0	2.524e-05	0.0002	0.0013	0.0001	9.955e-05	2.323e-05	0.0002	0.0002	0.0002	9.612e-05	0.0003	0.0001	8.869e-05	0.0002	0.0001	9.86e-05	0	0	0	0	9.675e-05	0	0.0003	0	0	0.0	0.91255	D	0.323	0.92824	T	0.003	0.11197	B	0.001	0.04355	B	0.862759	0.08882	N	0.919750	0.999635	0.21230	N	1.4	0.35362	L	0.85	0.57729	T	-0.8	0.39692	N	0.195	0.24135	-1.0270	0.21429	T	0.087	0.33802	T	10	0.04929939	0.14276	T	0.024152	0.47134	T	0.072	0.21020	0.235	0.16457	0.0716867268079	0.06686	0.15613225679464907	0.15534	0.0834565597848	0.09416	0.376034021378	0.21693	T	0.017894	0.16503	T	-0.356976	0.04304	T	-0.384105	0.35242	T	0.0602709385324624	0.07212	T	0.306369	0.11033	T	0.026174573	0.01642	0.030024435	0.01407	0.026174573	0.01642	0.030024435	0.01407	-4.801	0.35701	T	.	.	0.087	0.44910	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.505135	0.19345	14.22	0.64721896311489246	0.07572	0.23817	0.22197	N	AEFBI	0.046920	0.07844	N	-0.896749557448212	0.10918	0.5242411	-0.845385806202808	0.13399	0.6948462	0.130786786147718	0.17086	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	3.56	1.53	0.22224	0.349000	0.19801	0.220000	0.16063	-0.310000	0.06091	0.984000	0.35821	0.017000	0.20586	0.009000	0.08673	0.2324:0.6393:0.0:0.1283	3.945	0.08841	912	0.21483	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1841.98	33	chr21	39511705	.	C	T	1841.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.304e+00;DP=842;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-1.314e+00;SOR=0.674	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1095	20	0	1	0
chr21	39779276	39779276	G	A	exonic	IGSF5	.	nonsynonymous SNV	IGSF5:NM_001080444:exon5:c.G905A:p.R302H,	.	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.993	D	0.445	B	.	.	0.999	N	0.69	N	2.86	T	-1.015	T	0.007	T	0.307	1.182	9.805	3.14	2.124	0.536	10.223	0.064	.	0.0002	0.00838658	0.0040	9.664e-05	0.0004	0.0274	0	0.0003	0.0033	0.0134	0.0035963	556	154602	rs78244022	0.0019	0.0019	0.0016	0.0021	0.0312	0.0018	0.0018	0.0298	0.0292	0.0002	0.0005	0.0020	0.0312	0	0.0009	0.0002	0.0025	0.0125	0.0014	0.0014	0.0011	0.0018	0.0245	0.0013	0.0012	0.0211	0.0198	0	0	0.0002	0.0026	0.0245	0	0	0.0001	0.0028	0.0129	0.197	0.20607	T	0.0	0.92824	D	0.993	0.65571	D	0.445	0.45921	B	.	.	.	.	0.999497	0.21100	N	1.1	0.28011	L	2.86	0.10482	T	-0.58	0.17417	N	0.252	0.28498	-1.0147	0.25432	T	0.007	0.02478	T	9	0.004044831	0.00079	T	.	.	.	0.064	0.18567	.	.	0.167679373172	0.16340	0.08098479586906424	0.08033	0.120444497937	0.13563	0.305840402842	0.11278	T	0.063172	0.32106	T	-0.576067	0.00204	T	-0.579307	0.14607	T	0.0144526176839644	0.00292	T	0.415458	0.10884	T	0.03055081	0.02739	0.03832743	0.03678	0.03055081	0.02739	0.03832743	0.03678	-4.977	0.36589	T	.	.	0.092	0.13783	B	.	.	1.670955	0.21300	15.14	0.99716836606624959	0.81773	0.56028	0.30013	D	AEFI	0.124660	0.24081	N	-0.145366672945629	0.35433	2.035088	-0.184511482342356	0.32104	1.823273	0.0175216286358996	0.12960	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	3.14	3.14	0.35196	0.539000	0.22885	-0.063000	0.12399	0.475000	0.22001	0.718000	0.28801	0.758000	0.26602	0.005000	0.06747	0.0:0.0:1.0:0.0	10.223	0.42384	905	0.23532	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1500.98	34	chr21	39779276	.	G	A	1500.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.930;DP=807;ExcessHet=0.0000;FS=0.726;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=0.112;SOR=0.849	GT:AD:DP:GQ:PL	0/1:53,58:111:99:1515,0,1299	20	0	1	0
chr21	40353600	40353600	G	A	exonic	DSCAM	.	nonsynonymous SNV	DSCAM:NM_001271534:exon5:c.C799T:p.L267F	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.005	B	0.018	B	0.004	N	0.998	D	1.5	L	-0.25	T	-0.817	T	0.210	T	0.1	3.680	18.70	3.37	1.342	3.610	12.75	0.065	0.0161292728768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.34269	T	0.091	0.40110	T	0.005	0.12996	B	0.018	0.18489	B	0.004079	0.34148	N	0.290468	0.998	0.44028	D	1.25	0.31749	L	-0.25	0.67011	T	-1.81	0.42575	N	0.159	0.16586	-0.8167	0.54140	T	0.210	0.56933	T	10	0.22403213	0.39196	T	0.016129	0.37232	T	0.065	0.18881	0.391	0.41443	0.556470843481	0.55307	0.3603589838772309	0.35949	0.851204937113	0.68538	0.414253592491	0.27045	T	0.140729	0.47542	T	-0.175297	0.24439	T	-0.489579	0.23436	T	0.523045599460602	0.33478	D	0.905509	0.67676	D	0.14469577	0.33202	0.16181885	0.37619	0.14469577	0.33202	0.16181885	0.37618	-4.825	0.34881	T	.	.	0.253	0.48817	B	.;.;.	.;.;.	3.567299	0.50221	22.9	0.99832717748074018	0.91456	0.93626	0.58734	D	AEFI	0.587096	0.58488	D	-0.284820550779313	0.29733	1.651549	-0.125537935135108	0.34363	1.975861	0.92752539646963	0.26892	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.32	3.37	0.37692	3.113000	0.50069	6.352000	0.55493	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.1249:0.7455:0.1295	12.75	0.56679	970	0.06235	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1170.98	97	chr21	40353600	.	G	A	1170.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=839;ExcessHet=0.0000;FS=1.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=2.22;SOR=0.926	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr21	41237583	41237583	G	A	exonic	BACE2	.	nonsynonymous SNV	BACE2:NM_012105:exon3:c.G472A:p.V158I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.932	P	0.373	B	0.000	D	0.963	D	1	L	0.89	T	-1.076	T	0.078	T	0.164	2.627	14.74	3.83	0.663	2.119	9.405	0.066	0.00787183352774	.	.	0.0001	0	0.0003	0	0	1.5e-05	0	0.0007	0.00011	17	154602	rs781596817	6.977e-05	6.977e-05	4.492e-05	9.488e-05	0.0005	5.846e-05	5.457e-05	0.0004	0.0004	0	0.0002	0	0.0001	0	0.0003	3.237e-05	3.311e-05	0.0005	1.971e-05	1.97e-05	0	4.035e-05	0.0002	5.24e-06	2.45e-06	.	.	2.411e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	0.1	0.36113	T	0.213	0.33000	T	0.384	0.51990	B	0.288	0.43650	B	0.000113	0.50451	D	0.133495	0.963407	0.38346	D	1.015	0.25427	L	0.89	0.45636	T	0.52	0.03191	N	0.323	0.36779	-1.0762	0.08104	T	0.078	0.31103	T	10	0.11941522	0.22597	T	0.007872	0.20877	T	0.066	0.19193	0.604	0.73586	0.361733483669	0.35779	0.43160044235867745	0.43077	0.581922307668	0.53967	0.32995352149	0.14928	T	0.132405	0.46248	T	-0.441494	0.01267	T	-0.504359	0.21897	T	0.0593664058021514	0.07068	T	0.937406	0.76468	D	0.07528531	0.16950	0.07005371	0.14837	0.07528531	0.16950	0.07005371	0.14836	-5.191	0.38850	T	.	.	0.087	0.16054	B	.;.;.	.;.;.	1.999009	0.25397	16.75	0.99403923655053084	0.62934	0.85451	0.44585	D	AEFBI	0.250585	0.37061	N	-0.227015821696744	0.32029	1.802019	-0.187119785936583	0.32008	1.816911	0.999997393082343	0.74766	0.732398	0.92422	0	0.588015	0.36545	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.85	3.83	0.43287	2.171000	0.42080	4.358000	0.43109	0.618000	0.50648	0.979000	0.35152	1.000000	0.68203	0.117000	0.19042	0.0832:0.3823:0.5345:0.0	9.405	0.37620	970	0.06235	Peptidase family A1 domain|Peptidase family A1 domain|Memapsin-like;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	357.98	40	chr21	41237583	.	G	A	357.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.04;DP=748;ExcessHet=0.0000;FS=2.890;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.17;ReadPosRankSum=-1.769e+00;SOR=1.292	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1106	20	0	1	0
chr21	41443804	41443804	G	A	exonic	MX1	.	nonsynonymous SNV	MX1:NM_001282920:exon7:c.G946A:p.G316R	.	.	420	1100	2	0	0	2	0.000908265	.	.	728917	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.05	D	0.878	P	0.739	P	0.005	N	1.000	D	2.425	M	-0.62	T	-0.520	T	0.196	T	0.192	1.091	9.453	2.02	0.716	1.708	8.897	0.362	.	0.0096	0.00778754	0.0028	0.0281	0.0012	0	0	0.0004	0.0022	0.0004	0.0026455	409	154602	rs62623435	0.0010	0.0010	0.0010	0.0009	0.0268	0.0009	0.0009	0.0253	0.0248	0.0268	0.0018	0.0067	0	0	0.0024	5.036e-05	0.0020	0.0007	0.0080	0.0080	0.0082	0.0077	0.0265	0.0076	0.0074	0.0252	0.0247	0.0265	0	0.0041	0.0081	0	0	0	8.819e-05	0.0066	0	0.045	0.40832	D	0.195	0.38160	T	0.878	0.48285	P	0.739	0.55653	P	0.005257	0.32962	N	0.351646	0.998814	0.49283	D	2.375	0.68372	M	-0.62	0.71895	T	-6.05	0.90178	D	0.337	0.42443	-0.5198	0.67921	T	0.196	0.54999	T	10	0.008124739	0.00184	T	.	.	.	0.362	0.68230	0.645	0.78224	0.839133742791	0.83759	0.4643552471896555	0.46354	0.196392658314	0.21999	0.34796243906	0.17621	T	0.591578	0.86778	D	-0.413355	0.01889	T	-0.345583	0.39710	T	0.0653726273210793	0.07986	T	0.874613	0.69775	D	0.6297714	0.74286	0.41107038	0.65349	0.6297714	0.74287	0.41107038	0.65349	-7.342	0.63605	T	.	.	0.126	0.44345	B	.;.;.;.;.	.;.;.;.;.	3.118664	0.42097	21.5	0.958515736711685	0.27995	0.68058	0.33660	D	AEFBHCI	0.140743	0.26273	N	-0.0733883884235189	0.38563	2.260479	-0.209836663584815	0.31182	1.762305	0.999502937580059	0.40062	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	4.8	2.02	0.25641	1.483000	0.35105	2.391000	0.32540	0.614000	0.49286	0.623000	0.27939	0.995000	0.32472	0.476000	0.28476	0.2548:0.0:0.7452:0.0	8.897	0.34631	911	0.21964	Dynamin central domain|Dynamin-type guanine nucleotide-binding (G) domain|Dynamin, GTPase domain;Dynamin central domain|Dynamin-type guanine nucleotide-binding (G) domain|Dynamin, GTPase domain;Dynamin central domain|Dynamin-type guanine nucleotide-binding (G) domain|Dynamin, GTPase domain;Dynamin central domain|Dynamin-type guanine nucleotide-binding (G) domain|Dynamin, GTPase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	720.98	36	chr21	41443804	.	G	A	720.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.780e-01;DP=755;ExcessHet=0.0000;FS=3.368;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=0.585;SOR=0.494	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1250	20	0	1	0
chr21	41494370	41494370	G	A	exonic	TMPRSS2	.	nonsynonymous SNV	TMPRSS2:NM_001135099:exon3:c.C335T:p.T112I	.	.	429	1069	24	0	0	24	0.0111008	.	.	705704	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.2	T	0.061	B	0.015	B	0.291	N	1.000	N	1.185	L	0.11	T	-0.701	T	0.331	T	0.482	0.965	8.936	2.45	1.101	0.362	4.167	0.204	.	0.0050	0.00259585	0.0070	0.0018	0.0021	0	0.0103	0.0099	0.0078	0.0044	0.0065976	1020	154602	rs61735793	0.0092	0.0092	0.0092	0.0093	0.0103	0.0091	0.0090	0.0102	0.0101	0.0016	0.0027	0.0078	0	0.0124	0.0054	0.0103	0.0084	0.0046	0.0071	0.0071	0.0074	0.0068	0.0113	0.0068	0.0066	0.0107	0.0104	0.0017	0	0.0070	0.0084	0.0002	0.0077	0.0103	0.0113	0.0052	0.0019	0.108	0.30375	T	0.238	0.27503	T	0.005	0.12996	B	0.011	0.15521	B	0.291495	0.14760	N	0.595751	1	0.08975	N	1.865	0.49290	L	-2.29	0.87830	D	-2.3	0.74427	N	0.207	0.22998	-0.7009	0.60395	T	0.331	0.69843	T	10	0.0059131384	0.00132	T	.	.	.	0.204	0.49076	.	.	0.739343670324	0.73700	0.24467692368200114	0.24381	0.146657270165	0.16552	0.323774218559	0.13992	T	0.124626	0.44978	T	-0.312397	0.07538	T	-0.209837	0.53712	T	0.00135525956842458	0.00013	T	0.605739	0.23564	T	0.047010303	0.07965	0.04055839	0.04409	0.047010303	0.07964	0.04055839	0.04409	-5.659	0.44566	T	.	.	0.083	0.21466	B	.;.;.;.;.;.	.;.;.;.;.;.	0.239755	0.06203	2.651	0.72237763314166381	0.09903	0.03114	0.08053	N	AEFDBI	0.113274	0.22357	N	-0.939352890958234	0.09933	0.4723604	-0.955226339018764	0.10802	0.546421	0.888141719807848	0.25782	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.72	2.45	0.28953	0.251000	0.18025	0.403000	0.18023	-0.132000	0.13132	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1558:0.2349:0.6093:0.0	4.167	0.09773	909	0.22467	.;.;.;.;.;.	.	.	.	.	rs61735793	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2660.98	36	chr21	41494370	.	G	A	2660.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.815e+00;DP=875;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.28;ReadPosRankSum=-1.695e+00;SOR=0.711	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1469	20	0	1	0
chr21	41839644	41839644	C	T	exonic	PRDM15	.	nonsynonymous SNV	PRDM15:NM_001040424:exon7:c.G850A:p.V284M	.	.	409	1105	7	1	0	9	0.00405588	.	.	2824774	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.974	D	0.395	B	.	.	1.000	N	0.69	N	3.14	T	-0.980	T	0.014	T	0.067	1.120	9.568	-1.24	-0.216	-0.035	4.934	0.029	0.0224962600895	.	0.000798722	0.0007	0	0.0002	0.0001	0	7.493e-05	0	0.0044	0.0005627	87	154602	rs200127182	0.0004	0.0004	0.0002	0.0005	0.0048	0.0003	0.0003	0.0044	0.0042	2.987e-05	0.0001	3.826e-05	0	0	0.0017	5.306e-05	0.0005	0.0048	0.0002	0.0002	5.138e-05	0.0003	0.0041	0.0001	0.0001	0.0027	0.0023	0	0	6.532e-05	0	0	0	0	5.879e-05	0.0005	0.0041	0.02	0.68238	D	0.053	0.61642	T	0.974	0.57829	D	0.395	0.44317	B	.	.	.	.	1	0.08975	N	1.245	0.31408	L	3.14	0.08721	T	-0.39	0.13611	N	0.253	0.29081	-0.9796	0.35094	T	0.014	0.05657	T	9	0.004703015	0.00099	T	0.022496	0.45395	T	0.029	0.06676	0.291	0.25241	0.043077524339	0.03247	0.1873028831340715	0.18648	0.754488284324	0.63941	0.263549059629	0.05320	T	0.039333	0.25154	T	-0.668023	0.00056	T	-0.732627	0.04210	T	0.0260764487060927	0.01416	T	0.880112	0.59716	D	0.02967756	0.02503	0.0645425	0.12951	0.02967756	0.02502	0.0645425	0.12950	-5.521	0.42351	T	.	.	0.105	0.31708	B	.;.;.;.	.;.;.;.	1.231739	0.16264	12.43	0.995557634473761	0.71459	0.03350	0.08436	N	AEFDBI	0.041485	0.06312	N	-0.745287705308722	0.14762	0.7381015	-0.876710092750686	0.12647	0.6517594	0.958628177900968	0.28374	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.67	-1.24	0.08948	-0.026000	0.12340	0.290000	0.16862	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.1352:0.5318:0.0:0.333	4.934	0.13283	981	0.03995	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3176.11	34	chr21	41839644	.	C	T	3176.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.997;DP=940;ExcessHet=0.1072;FS=3.389;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=2.12;SOR=0.897	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,997	19	0	2	0
chr21	41918930	41918930	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G58C:p.D20H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.991	D	0.635	P	0.000	D	0.999	D	2.015	M	1.75	T	-1.041	T	0.094	T	0.604	2.253	13.49	4.65	1.348	2.166	10.542	0.184	0.0154551292841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.655e-05	0.0018	8.339e-05	4.965e-05	7.588e-05	5.548e-05	5.15e-05	6.221e-05	5.689e-05	6.157e-05	0	0	2.542e-05	0	0	7.588e-05	0.0001	2.345e-05	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.081	0.39575	T	0.008	0.69154	D	0.991	0.64070	D	0.635	0.51908	P	0.000159	0.49130	D	0.177285	0.997695	0.47157	D	.	.	.	1.75	0.26301	T	-3.35	0.67241	D	0.495	0.52829	-1.0406	0.17132	T	0.094	0.35578	T	10	0.36435574	0.52982	T	0.015455	0.36203	T	0.184	0.45763	0.5	0.59147	0.412715890961	0.40891	0.48026109495753466	0.47946	0.939492545994	0.72166	0.386622190475	0.23192	T	0.11001	0.42436	T	-0.0654905	0.42045	T	-0.331849	0.41263	T	0.957460343837738	0.65017	D	0.80112	0.44691	T	0.13993374	0.32304	0.19344127	0.42913	0.13993374	0.32304	0.19344127	0.42912	-4.866	0.35351	T	.	.	0.297	0.52720	B	.;.	.;.	3.167608	0.42947	21.6	0.98968893955553749	0.49481	0.97817	0.77351	D	AEFGBCI	0.178683	0.30595	N	0.120232727473123	0.47407	2.966873	0.0765168796991302	0.43369	2.640186	0.999806047820681	0.43304	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	4.65	0.57626	2.712000	0.46854	2.536000	0.33191	-0.193000	0.09282	0.998000	0.41325	0.990000	0.31317	0.261000	0.23543	0.0:0.9112:0.0:0.0888	10.542	0.44226	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2368	698.27	35	chr21	41918930	.	C	G	698.27	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.341e+00;DP=1542;ExcessHet=4.7172;FS=85.931;InbreedingCoeff=-0.3046;MLEAC=9;MLEAF=0.237;MQ=60.00;MQRankSum=0.00;QD=0.89;ReadPosRankSum=0.977;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1464	10	0	9	2
chr21	41918931	41918931	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G57C:p.E19D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.026	B	0.018	B	0.000	N	0.966	N	1.01	L	1.63	T	-1.066	T	0.041	T	0.356	0.961	8.923	-3.89	-0.592	-2.108	7.143	0.072	0.00492569628037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.451e-05	0.0016	7.555e-05	5.341e-05	7.873e-05	5.358e-05	4.967e-05	6.511e-05	5.999e-05	6.098e-05	0	0	0	0	0	7.873e-05	6.752e-05	1.17e-05	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.236	0.18061	T	0.601	0.07919	T	0.026	0.19406	B	0.018	0.18489	B	0.000050	0.53742	N	0.125982	0.99197	0.25906	N	.	.	.	1.63	0.29342	T	-1.04	0.27259	N	0.215	0.24010	-1.0662	0.10269	T	0.041	0.17530	T	10	0.08271399	0.13680	T	0.004926	0.12380	T	0.072	0.21020	0.35	0.34760	0.220303561663	0.21668	0.1572690006054573	0.15647	0.316597008402	0.33914	0.371157944202	0.20998	T	0.066614	0.32991	T	-0.190454	0.22190	T	-0.51135	0.21176	T	0.0971272264662142	0.12037	T	0.621038	0.23867	T	0.06723062	0.14539	0.068933986	0.14461	0.06723062	0.14538	0.068933986	0.14461	-4.061	0.26403	T	.	.	0.138	0.30076	B	.;.	.;.	-0.008587	0.04225	1.036	0.97585889396706837	0.34764	0.55769	0.29947	D	AEFGBCI	0.075069	0.15065	N	-1.00383072654947	0.08524	0.3999859	-1.03972205038638	0.08921	0.4411397	0.987282828575251	0.31228	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	-3.89	0.03916	-2.263000	0.01256	-2.617000	0.03544	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.255000	0.23391	0.0:0.2473:0.135:0.6177	7.143	0.24745	985	0.02828	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	690.28	68	chr21	41918931	.	C	G	690.28	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.016e+00;DP=1649;ExcessHet=4.7172;FS=94.625;InbreedingCoeff=-0.3048;MLEAC=9;MLEAF=0.237;MQ=60.00;MQRankSum=0.00;QD=0.88;ReadPosRankSum=0.977;SOR=9.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1464	10	0	9	2
chr21	41918933	41918933	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G55C:p.E19Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.993	D	0.796	P	0.000	D	0.845	D	1.01	L	1.45	T	-0.894	T	0.124	T	0.464	3.123	16.44	5.53	2.607	4.539	14.966	0.123	0.0219031869935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.478e-05	0.0011	4.439e-05	2.512e-05	4.037e-05	2.676e-05	2.415e-05	3.06e-05	2.725e-05	3.035e-05	0	0	0	0	0	4.037e-05	6.709e-05	1.166e-05	0	6.568e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.094	0.31383	T	0.077	0.42436	T	0.993	0.65571	D	0.796	0.58006	P	0.000050	0.53742	D	0.125982	0.558298	0.35134	D	.	.	.	1.45	0.34050	T	-1.93	0.45404	N	0.445	0.48319	-0.8942	0.48558	T	0.124	0.42799	T	10	0.385596	0.54516	T	0.021903	0.44729	T	0.123	0.34020	0.335	0.32329	0.475272412942	0.47157	0.2669297999209157	0.26605	0.875831749287	0.69562	0.368384510279	0.20599	T	0.169624	0.51706	T	-0.071456	0.41094	T	-0.340418	0.40296	T	0.892000317573547	0.54302	D	0.780422	0.42483	T	0.12762854	0.29860	0.090659045	0.21273	0.12762854	0.29860	0.090659045	0.21273	-4.173	0.26359	T	.	.	0.172	0.37802	B	.;.	.;.	3.657104	0.51934	23.2	0.99734899065078686	0.83047	0.98645	0.85080	D	AEFGBCI	0.411583	0.48200	N	0.342246259245579	0.58331	4.00473	0.324919729865026	0.57008	3.865243	0.999999844603992	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	5.201000	0.64999	4.599000	0.43989	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.215000	0.22324	0.0:1.0:0.0:0.0	14.966	0.70847	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	693.88	38	chr21	41918933	.	C	G	693.88	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-2.962e+00;DP=1518;ExcessHet=4.7172;FS=87.197;InbreedingCoeff=-0.2683;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=0.88;ReadPosRankSum=0.980;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1464	12	0	9	0
chr21	41918935	41918935	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G53C:p.R18T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.651	P	0.15	B	0.052	N	1.000	N	1.935	M	1.93	T	-1.030	T	0.042	T	0.298	-0.400	2.125	0.664	-0.152	0.376	4.864	0.039	0.00493845236522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456	0.15047	T	0.346	0.17696	T	0.651	0.40707	P	0.15	0.34161	B	0.052137	0.22921	N	0.460473	1	0.08975	N	.	.	.	1.92	0.23082	T	-2.45	0.53577	N	0.252	0.28498	-1.0300	0.20454	T	0.042	0.18118	T	10	0.07400718	0.11258	T	0.004938	0.12442	T	0.039	0.10176	0.274	0.22528	0.158396225186	0.15383	0.2792123094980505	0.27834	0.43111718306	0.43331	0.306925415993	0.11442	T	0.034186	0.23222	T	-0.204236	0.20195	T	-0.531148	0.19171	T	0.249620780348778	0.22856	T	0.616438	0.23595	T	0.05097029	0.09291	0.045770753	0.06232	0.05097029	0.09291	0.045770753	0.06231	-2.512	0.11262	T	.	.	0.089	0.12276	B	.;.	.;.	0.500997	0.08699	5.474	0.53906906178001035	0.05031	0.63413	0.32082	D	AEFGBCI	0.063035	0.12155	N	-0.949612951554288	0.09701	0.4602946	-1.04496436725723	0.08812	0.4351327	0.925456163519065	0.26816	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	0.664	0.17060	0.183000	0.16729	-0.306000	0.10077	-0.800000	0.03169	0.000000	0.06391	0.000000	0.08366	0.096000	0.18090	0.0:0.5278:0.1455:0.3267	4.864	0.12958	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.119	560.61	38	chr21	41918935	.	C	G,T	560.61	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=-3.839e+00;DP=1195;ExcessHet=1.1607;FS=104.834;InbreedingCoeff=-0.1351;MLEAC=4,1;MLEAF=0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=1.27;ReadPosRankSum=1.65;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0,0:35:99:.:.:0,99,1464,99,1464,1464	16	0	4	0
chr21	41918935	41918935	C	T	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G53A:p.R18K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.011	B	0.005	B	0.052	N	1.000	N	1.245	L	1.98	T	-0.968	T	0.029	T	0.147	-0.717	0.918	0.664	-0.152	0.376	4.864	0.021	0.00359601692473	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1386150948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.761	0.08359	T	0.824	0.03783	T	0.006	0.13644	B	0.003	0.08700	B	0.052137	0.22921	N	0.460473	1	0.08975	N	.	.	.	1.97	0.22067	T	-0.97	0.25770	N	0.104	0.11483	-0.9676	0.37693	T	0.029	0.12453	T	10	0.038707197	0.02307	T	0.003596	0.08216	T	0.021	0.04004	0.329	0.31357	0.206339911435	0.20273	0.2555764771231582	0.25471	0.271759973214	0.29688	0.306375771761	0.11360	T	0.066724	0.33019	T	-0.387639	0.02786	T	-0.625465	0.10761	T	0.0195589058417432	0.00659	T	0.449255	0.12651	T	0.03039478	0.02696	0.03585901	0.02919	0.03039478	0.02695	0.03585901	0.02918	-2.169	0.04452	T	.	.	0.084	0.09772	B	.;.	.;.	0.305913	0.06811	3.337	0.60145959432842899	0.06393	0.56893	0.30234	D	AEFGBCI	0.066391	0.12999	N	-1.29262350574295	0.03763	0.1686914	-1.29128918624558	0.04547	0.2147446	0.925456163519065	0.26816	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	0.664	0.17060	0.183000	0.16729	-0.306000	0.10077	-0.800000	0.03169	0.000000	0.06391	0.000000	0.08366	0.096000	0.18090	0.0:0.5278:0.1455:0.3267	4.864	0.12958	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.119	560.61	38	chr21	41918935	.	C	G,T	560.61	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=-3.839e+00;DP=1195;ExcessHet=1.1607;FS=104.834;InbreedingCoeff=-0.1351;MLEAC=4,1;MLEAF=0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=1.27;ReadPosRankSum=1.65;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0,0:35:99:.:.:0,99,1464,99,1464,1464	16	0	4	0
chr21	41992531	41992531	G	C	exonic	ZBTB21	.	nonsynonymous SNV	ZBTB21:NM_001320729:exon2:c.C1565G:p.A522G	.	.	424	1049	46	3	0	52	0.024186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.002	B	0.004	B	0.328	N	1.000	N	0.755	N	3.18	T	-0.954	T	0.010	T	0.024	-0.023	3.894	0.454	0.046	1.001	9.476	0.068	.	0.0071	0.00738818	0.0070	0.0105	0.0018	0.0007	0.0009	0.0055	0.0121	0.0197	0.0064876	1003	154602	rs35124464	0.0052	0.0052	0.0047	0.0057	0.0284	0.0051	0.0051	0.0249	0.0235	0.0119	0.0028	0.0144	0.0003	0.0017	0.0284	0.0039	0.0072	0.0193	0.0072	0.0072	0.0070	0.0074	0.0182	0.0069	0.0067	0.0152	0.0140	0.0121	0.0055	0.0033	0.0199	0	0.0013	0.0374	0.0052	0.0038	0.0182	0.288	0.15098	T	0.345	0.20228	T	0.002	0.09854	B	0.004	0.10090	B	0.327997	0.04113	N	1.522150	1	0.08975	N	1.1	0.28011	L	3.16	0.07711	T	-0.61	0.18042	N	0.131	0.12627	-0.9537	0.40327	T	0.010	0.03627	T	10	0.0023423433	0.00034	T	.	.	.	0.068	0.19811	.	.	0.143184338766	0.13958	0.212312114547024	0.21147	0.179118153134	0.20148	0.264483004808	0.05436	T	0.008282	0.07610	T	-0.705944	0.00034	T	-0.77188	0.02707	T	0.00308527223274043	0.00032	T	0.671533	0.30167	T	0.021541987	0.00762	0.025680333	0.00622	0.021541987	0.00761	0.025680333	0.00622	-3.342	0.14285	T	.	.	0.097	0.15698	B	.;.;.;.	.;.;.;.	1.624779	0.20752	14.89	0.93860187295792363	0.23865	0.24793	0.22503	N	AEFBCI	0.055706	0.10237	N	-0.902054983265432	0.10793	0.5175839	-0.907795550003522	0.11909	0.6096349	0.988863976278924	0.31652	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.77	0.454	0.15857	2.992000	0.49106	4.768000	0.44756	0.676000	0.76740	0.246000	0.24809	0.912000	0.28152	0.330000	0.25202	0.0645:0.5525:0.2893:0.0937	9.476	0.38037	986	0.02773	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1198.98	35	chr21	41992531	.	G	C	1198.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.980e-01;DP=890;ExcessHet=0.0000;FS=0.680;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.99;ReadPosRankSum=1.60;SOR=0.643	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr21	42102240	42102240	G	T	exonic	UMODL1	.	nonsynonymous SNV	UMODL1:NM_001004416:exon8:c.G1261T:p.V421L	.	.	.	.	.	.	.	.	.	.	.	2261333	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	0.001	B	0.006	B	0.060	N	1.000	N	0.69	N	1.19	T	-1.016	T	0.063	T	0.115	-0.727	0.887	-3.06	-1.285	-0.383	7.793	0.022	0.00364675092916	.	.	.	.	.	.	.	.	.	.	.	.	.	rs917651809	2.737e-06	4.104e-06	2.723e-06	2.751e-06	5.975e-05	6.4e-07	4.3e-07	9.9e-06	3.7e-06	5.975e-05	0	0	0	0	0	8.995e-07	1.657e-05	0	6.565e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.287	0.15770	T	0.204	0.29442	T	0.001	0.07471	B	0.006	0.12133	B	0.060426	0.02133	N	2.386980	1	0.08975	N	1.61	0.41143	L	1.19	0.37578	T	-0.48	0.15986	N	0.093	0.07262	-1.0157	0.25110	T	0.063	0.26172	T	10	0.05339408	0.05524	T	0.003647	0.08402	T	0.022	0.04323	0.521	0.62368	0.192905019026	0.18896	0.22617906426536916	0.22532	0.103051432404	0.11657	0.25089135766	0.03863	T	0.00303	0.02432	T	-0.278708	0.10805	T	-0.638121	0.09807	T	0.52947598695755	0.33715	D	0.310069	0.06017	T	0.040540587	0.05807	0.050176337	0.07822	0.040540587	0.05807	0.050176337	0.07821	-1.832	0.02606	T	.	.	0.113	0.38693	B	.;.;.;.	.;.;.;.	0.073919	0.04817	1.421	0.55246635687768775	0.05303	0.02418	0.06834	N	ALL	0.082240	0.16650	N	-1.63561135281107	0.01097	0.04762187	-1.69935851113038	0.01140	0.05127315	0.999999068943594	0.74766	0.446893	0.09132	0	0.607795	0.50457	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.99	-3.06	0.05053	-0.248000	0.08872	-0.023000	0.12899	-1.487000	0.01050	0.003000	0.16062	0.000000	0.08366	0.009000	0.08673	0.4043:0.1218:0.4739:0.0	7.793	0.28295	981	0.03995	.;.;.;SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1155.98	41	chr21	42102240	.	G	T	1155.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.00;DP=862;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.27;ReadPosRankSum=0.609;SOR=0.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,99,1485	20	0	1	0
chr21	42111182	42111182	A	G	exonic	UMODL1	.	nonsynonymous SNV	UMODL1:NM_001199527:exon11:c.A1744G:p.S582G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.673	P	0.071	B	.	.	0.999	N	.	.	-0.69	T	-0.976	T	0.172	T	0.077	0.260	5.407	0.72	0.035	0.013	5.254	0.081	0.00501232265985	.	.	.	.	.	.	.	.	.	.	.	.	.	rs985850136	9.219e-06	9.594e-06	7.019e-06	1.147e-05	0.0003	5.14e-06	3.96e-06	0.0001	0.0001	0.0003	0	0	0	0	0	9.208e-07	3.427e-05	1.241e-05	6.588e-05	6.577e-05	3.867e-05	9.431e-05	0.0002	3.525e-05	2.622e-05	0.0001	9.96e-05	0.0002	0	0	0	0	0	0	0	0	0	0.015	0.53172	D	0.056	0.53072	T	0.673	0.41222	P	0.071	0.27960	B	.	.	.	.	1	0.21260	N	.	.	.	-0.79	0.73739	T	-0.25	0.11008	N	0.072	0.09207	-0.9761	0.35882	T	0.172	0.51357	T	8	0.051354915	0.05003	T	0.005012	0.12660	T	0.081	0.23632	0.14	0.04369	0.0884992946249	0.08302	0.10184488345339426	0.10115	0.182222055914	0.20484	0.233200922608	0.02213	T	.	.	.	-0.425901	0.01570	T	-0.527588	0.19528	T	0.0302532825687651	0.02029	T	0.487551	0.14930	T	.	.	.	.	.	.	.	.	-6.953	0.53690	T	.	.	0.119	0.24294	B	.;.	.;.	0.439859	0.08101	4.828	0.62526727179624053	0.06985	0.02162	0.06348	N	AEFDBCI	0.045583	0.07471	N	-1.02275770322888	0.08133	0.3802734	-1.19245112652791	0.06035	0.2893034	0.99991600351229	0.45857	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	2.03	0.72	0.17368	-0.011000	0.12659	0.389000	0.17868	0.668000	0.69082	0.000000	0.06391	0.012000	0.20211	0.009000	0.08673	0.7428:0.0:0.0:0.2572	5.254	0.14855	981	0.03995	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	708.98	59	chr21	42111182	.	A	G	708.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.082e+00;DP=1117;ExcessHet=0.0000;FS=1.073;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=0.834;SOR=0.527	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,119,1696	20	0	1	0
chr21	42111559	42111559	C	A	exonic	UMODL1	.	nonsynonymous SNV	UMODL1:NM_001199527:exon11:c.C2121A:p.D707E	.	.	426	1020	74	2	0	78	0.0368272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.255	B	0.08	B	0.186	N	1.000	N	0.695	N	-0.51	T	-0.987	T	0.137	T	0.104	-0.430	1.999	0.034	0.165	-1.398	5.142	0.025	.	0.0048	0.00459265	0.0083	0.0012	0.0045	0	0.0023	0.0080	0.0056	0.0233	0.0075549	1168	154602	rs140135030	0.0070	0.0070	0.0063	0.0077	0.0354	0.0069	0.0068	0.0314	0.0299	0.0009	0.0054	0.0232	5.039e-05	0.0014	0.0354	0.0057	0.0088	0.0249	0.0054	0.0054	0.0051	0.0057	0.0188	0.0051	0.0050	0.0157	0.0146	0.0011	0	0.0082	0.0199	0	0.0007	0.0204	0.0067	0.0081	0.0188	0.325	0.27194	T	0.733	0.12142	T	0.187	0.31319	B	0.08	0.28873	B	0.185998	0.03216	N	1.688570	1	0.08975	N	1.5	0.37844	L	-0.53	0.70833	T	-0.8	0.22078	N	0.07	0.12055	-0.9874	0.33249	T	0.137	0.45432	T	10	0.002900362	0.00046	T	.	.	.	0.025	0.05312	0.13	0.03494	0.265010934533	0.26120	0.09560597137393033	0.09492	0.313514092549	0.33644	0.258530199528	0.04717	T	0.004089	0.03502	T	-0.549777	0.00293	T	-0.544907	0.17817	T	0.00342129005796419	0.00036	T	0.59884	0.23175	T	0.059739888	0.12177	0.045058846	0.05978	0.059739888	0.12177	0.045058846	0.05978	-2.767	0.07883	T	.	.	0.147	0.50871	B	.;.;.;.	.;.;.;.	-0.189392	0.03145	0.508	0.76817094624353499	0.11621	0.04875	0.10616	N	AEFDBHCI	0.102208	0.20509	N	-0.986139826949741	0.08899	0.4190532	-1.0491067709566	0.08725	0.4304242	0.996676952249143	0.34917	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.29	0.034	0.13502	-0.668000	0.05369	-1.372000	0.05595	0.518000	0.23583	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5592:0.1545:0.2863	5.142	0.14292	981	0.03995	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2005.98	130	chr21	42111559	.	C	A	2005.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=2718;ExcessHet=0.0000;FS=0.617;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.93;ReadPosRankSum=-1.860e-01;SOR=0.804	GT:AD:DP:GQ:PL	0/0:164,0:164:99:0,120,1800	20	0	1	0
chr21	42126478	42126478	C	G	exonic	UMODL1	.	nonsynonymous SNV	UMODL1:NM_001199527:exon17:c.C3449G:p.T1150S	.	.	403	1118	0	1	0	2	0.000893655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.998	D	0.000	D	0.930	D	1.8	L	-1.5	D	0.083	D	0.547	D	0.118	2.067	12.87	1.83	0.507	0.042	7.679	0.372	0.0967098506618	0.0002	0.000599042	0.0004	0.0001	0.0002	0	0	0.0001	0	0.002	0.000304	47	154602	rs373108386	0.0003	0.0003	0.0002	0.0003	0.0020	0.0002	0.0002	0.0018	0.0017	2.987e-05	0.0002	0	0	0	0	0.0002	0.0003	0.0020	0.0002	0.0002	0.0001	0.0003	0.0031	0.0002	0.0001	0.0019	0.0015	0	0	0.0002	0	0	0	0	0.0002	0.0005	0.0031	0.098	0.37966	T	0.0	0.92824	D	0.711	0.90584	P	0.209	0.88582	B	0.000287	0.46274	D	0.000000	0.689075	0.36946	D	1.245	0.31408	L	-1.5	0.81318	D	-1.87	0.43717	N	0.296	0.33469	0.083	0.83868	D	0.547	0.83364	D	9	0.020843685	0.00487	T	0.09671	0.76649	D	0.372	0.69102	0.569	0.69167	0.778836685026	0.77680	0.48824487972970654	0.48744	0.409264224451	0.41739	0.306289672852	0.11347	T	0.137893	0.47108	T	-0.424286	0.01607	T	-0.395464	0.33913	T	0.0600461030232238	0.07176	T	0.514549	0.16760	T	0.07912637	0.18059	0.09166084	0.21561	0.07912637	0.18058	0.09166084	0.21561	-6.455	0.49938	T	.	.	0.111	0.32445	B	.;.;.;.	.;.;.;.	2.605999	0.33832	19.46	0.99218649558050642	0.55839	0.15246	0.18817	N	AEFDBCI	0.114450	0.22543	N	-0.261610395614585	0.30642	1.710509	-0.407404696665012	0.24779	1.358869	0.998933857028052	0.38009	0.525926	0.21836	0	0.547309	0.14657	0	0.615948	0.41167	0	0.542086	0.14980	0	.	.	3.74	1.83	0.24279	0.054000	0.14087	0.433000	0.18345	0.599000	0.40250	0.044000	0.21163	0.055000	0.21918	0.571000	0.30675	0.0:0.7433:0.165:0.0917	7.679	0.27672	981	0.03995	.;.;.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1702.98	33	chr21	42126478	.	C	G	1702.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.761;DP=870;ExcessHet=0.0000;FS=2.039;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=-1.397e+00;SOR=0.882	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1310	20	0	1	0
chr21	42137640	42137722	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	0	splicing	UMODL1	.	.	.	.	.	432	559	239	60	232	591	0.24306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	10995.83	42	chr21	42137640	.	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	A,*	10995.83	.	AC=12,6;AF=0.333,0.167;AN=36;BaseQRankSum=0.289;DP=1413;ExcessHet=0.4630;FS=5.341;InbreedingCoeff=0.1091;MLEAC=13,7;MLEAF=0.361,0.194;MQ=59.77;MQRankSum=-6.950e-01;QD=17.79;ReadPosRankSum=0.619;SOR=0.413	GT:AD:DP:GQ:PL	./.:40,0,0:40:0:0,0,88,0,88,88	5	1	7	3
chr21	42447180	42447180	A	G	exonic	UBASH3A	.	nonsynonymous SNV	UBASH3A:NM_001001895:exon14:c.A1858G:p.I620V	.	.	421	1067	33	1	0	35	0.0161365	.	.	742656	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.04	D	0.0	B	0.0	B	0.043	N	1.000	D	0	N	3.08	T	-0.921	T	0.007	T	0.129	0.542	6.933	1.14	-0.048	0.347	2.216	0.039	.	0.0038	0.00279553	0.0042	0.0007	0.0016	0	0	0.0048	0.0088	0.0095	0.0041073	635	154602	rs148149121	0.0043	0.0043	0.0041	0.0046	0.0149	0.0043	0.0042	0.0124	0.0114	0.0009	0.0021	0.0194	0	0.0001	0.0149	0.0040	0.0052	0.0100	0.0034	0.0034	0.0034	0.0033	0.0108	0.0031	0.0030	0.0084	0.0076	0.0011	0	0.0035	0.0210	0	0.0002	0.0136	0.0040	0.0052	0.0108	0.093	0.33923	T	0.152	0.33554	T	0.0	0.02946	B	0.0	0.01387	B	0.043025	0.23780	N	0.356002	1	0.81001	D	1.555	0.39373	L	3.08	0.08460	T	-0.46	0.15178	N	0.251	0.28381	-0.9208	0.45445	T	0.007	0.02399	T	10	0.0024763644	0.00037	T	.	.	.	0.039	0.10176	.	.	0.33835085245	0.33439	0.2641569883606941	0.26328	0.109189358208	0.12315	0.390287220478	0.23710	T	0.105175	0.41541	T	-0.635169	0.00089	T	-0.677191	0.07156	T	0.0105885998561583	0.00148	T	0.536546	0.18022	T	0.09261947	0.21733	0.06972154	0.14724	0.09261947	0.21733	0.06972154	0.14724	-4.441	0.30109	T	.	.	0.095	0.14797	B	.;.	.;.	1.072182	0.14545	11.11	0.80113903339197989	0.13051	0.59468	0.30924	D	AEFDBI	0.156703	0.28210	N	-0.914647396964375	0.10498	0.5019893	-0.809531213614776	0.14266	0.7444755	0.758839313926418	0.23477	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.633917	0.49826	0	.	.	4.98	1.14	0.19817	0.577000	0.23461	0.873000	0.22330	-0.083000	0.16234	0.988000	0.36536	0.967000	0.29559	0.031000	0.13245	0.4571:0.3086:0.0852:0.149	2.216	0.03717	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1007.98	33	chr21	42447180	.	A	G	1007.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.726;DP=760;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.81;ReadPosRankSum=-2.330e-01;SOR=0.674	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1113	20	0	1	0
chr21	42447191	42447191	C	G	exonic	UBASH3A	.	nonsynonymous SNV	UBASH3A:NM_001001895:exon14:c.C1869G:p.N623K	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.021	B	0.015	B	0.954	N	1.000	N	0	N	3.12	T	-1.018	T	0.013	T	0.045	2.049	12.81	2.99	2.296	0.854	4.374	0.069	0.00641877214729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.51853	D	0.027	0.56192	D	0.02	0.18474	B	0.015	0.17295	B	0.953725	0.07673	N	1.020780	1	0.08975	N	1.1	0.28011	L	3.12	0.08106	T	-0.78	0.21644	N	0.197	0.21710	-1.0175	0.24528	T	0.013	0.04890	T	10	0.07120994	0.10466	T	0.006419	0.16899	T	0.069	0.20116	0.308	0.27967	0.224531998449	0.22054	0.19907970655467916	0.19824	0.169225446996	0.19074	0.415905237198	0.27272	T	0.109562	0.42354	T	-0.360329	0.04111	T	-0.755364	0.03281	T	0.0943991676763703	0.11729	T	0.514149	0.16548	T	0.13296117	0.30942	0.08672087	0.20110	0.13296117	0.30942	0.08672087	0.20109	-3.782	0.22182	T	.	.	0.119	0.29833	B	.;.	.;.	2.048797	0.26049	16.98	0.97946355163312848	0.37071	0.29158	0.23747	N	AEFBI	0.127026	0.24422	N	-0.676098471541903	0.16704	0.8533802	-0.612975555649619	0.19160	1.026748	0.90072329764959	0.26083	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.633917	0.49826	0	.	.	4.98	2.99	0.33673	0.468000	0.21763	2.975000	0.35815	0.599000	0.40250	0.223000	0.24568	0.996000	0.32793	0.070000	0.16646	0.1903:0.6334:0.0:0.1763	4.374	0.10697	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1211.98	33	chr21	42447191	.	C	G	1211.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.480e-01;DP=786;ExcessHet=0.0000;FS=2.735;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=-1.306e+00;SOR=1.038	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1113	20	0	1	0
chr21	42477368	42477368	A	C	exonic	RSPH1	.	nonsynonymous SNV	RSPH1:NM_001286506:exon6:c.T536G:p.L179W	Ciliary dyskinesia, primary, 24, Autosomal recessive	.	419	1072	30	1	0	32	0.0147059	.	.	243626	Primary_ciliary_dyskinesia_24|not_provided|Primary_ciliary_dyskinesia|not_specified	MONDO:MONDO:0014202,MedGen:C3809634,OMIM:615481,Orphanet:244|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.981	D	0.069	N	0.994	N	2.05	M	-0.43	T	-0.580	T	0.360	T	0.354	1.687	11.60	4.3	1.738	4.809	7.699	0.337	.	0.0075	0.00259585	0.0073	0.0017	0.0037	0.0001	0.0020	0.0107	0.0044	0.0054	0.0071603	1107	154602	rs138007679	0.0087	0.0087	0.0087	0.0088	0.0199	0.0086	0.0086	0.0170	0.0159	0.0011	0.0044	0.0179	2.519e-05	0.0018	0.0199	0.0097	0.0100	0.0053	0.0070	0.0070	0.0074	0.0066	0.0108	0.0067	0.0065	0.0101	0.0098	0.0017	0.0100	0.0092	0.0201	0	0.0007	0.0310	0.0108	0.0083	0.0030	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.981	0.75168	D	0.069443	0.21604	N	0.437144	0.995387	0.23650	N	2.22	0.62911	M	-0.43	0.71662	T	-4.18	0.76094	D	0.69	0.69562	-0.5802	0.65609	T	0.360	0.72201	T	10	0.009697765	0.00218	T	.	.	.	0.337	0.65913	.	.	0.651676189787	0.64878	0.7483150795058281	0.74777	0.640128570775	0.57655	0.587133646011	0.51090	T	0.518742	0.83130	D	-0.320675	0.06842	T	-0.223016	0.52446	T	0.0454924431433719	0.04692	T	0.805019	0.45286	T	0.17939371	0.39008	0.2904774	0.55070	0.19862854	0.41773	0.2573554	0.51450	-7.512	0.57912	D	.	.	0.435	0.64265	A	.;.	.;.	3.936228	0.57567	23.9	0.95818254659302704	0.27904	0.70193	0.34490	D	AEFDGBCI	0.477952	0.52072	N	0.412952004087937	0.62133	4.424404	0.297161445250001	0.55373	3.700439	0.999999681311236	0.74766	0.554377	0.28877	0	0.296712	0.05252	1	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.3	4.3	0.50540	5.217000	0.65084	10.629000	0.83502	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.008000	0.08271	0.9018:0.0:0.0982:0.0	7.699	0.27779	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	873.98	33	chr21	42477368	.	A	C	873.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=813;ExcessHet=0.0000;FS=0.818;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.20;ReadPosRankSum=1.22;SOR=0.879	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1214	20	0	1	0
chr21	42565848	42565848	A	T	exonic	SLC37A1	.	nonsynonymous SNV	SLC37A1:NM_001320537:exon15:c.A1243T:p.S415C	.	.	415	1060	45	2	0	49	0.0225911	.	.	728926	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.991	D	0.926	D	0.000	D	1.000	D	2.125	M	0.23	T	-0.404	T	0.264	T	0.737	3.804	19.31	4.12	1.637	7.095	12.426	0.412	.	0.0051	0.00738818	0.0063	0.0009	0.0054	0	0.0012	0.0074	0.0088	0.0112	0.0062095	960	154602	rs117821416	0.0063	0.0063	0.0062	0.0065	0.0482	0.0062	0.0062	0.0435	0.0417	0.0012	0.0053	0.0073	2.519e-05	0.0008	0.0482	0.0064	0.0079	0.0105	0.0048	0.0048	0.0048	0.0048	0.0097	0.0045	0.0044	0.0075	0.0067	0.0013	0.0439	0.0057	0.0075	0.0004	0.0005	0.0442	0.0064	0.0095	0.0097	0.001	0.78490	D	0.002	0.79402	D	0.991	0.64070	D	0.926	0.66095	D	0.000000	0.84330	D	0.089981	0.999998	0.58761	D	.	.	.	0.23	0.59717	T	-3.44	0.67477	D	0.777	0.77883	-0.4043	0.71892	T	0.264	0.63490	T	10	0.021000087	0.00494	T	.	.	.	0.412	0.72328	.	.	0.596622473119	0.59341	0.7066432131260653	0.70606	1.18097306513	0.80018	0.637778460979	0.58248	T	0.507714	0.82533	D	-0.152753	0.27883	T	0.0171998	0.71450	D	0.0186816729709919	0.00581	T	0.854615	0.54143	D	0.53632385	0.69190	0.38193932	0.63191	0.53632385	0.69191	0.38193932	0.63191	-9.883	0.73208	D	.	.	0.185	0.40065	B	.;.	.;.	4.452089	0.69213	25.3	0.99030630587834523	0.50786	0.97994	0.78718	D	AEFGBI	0.809050	0.73266	D	0.597923731511423	0.73044	5.902358	0.530957509711058	0.70082	5.453411	0.999999846841137	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.655142	0.61905	0	.	.	4.12	4.12	0.47504	7.375000	0.78897	8.930000	0.78409	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	1.0:0.0:0.0:0.0	12.426	0.54881	988	0.01987	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2175.98	41	chr21	42565848	.	A	T	2175.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.885e+00;DP=965;ExcessHet=0.0000;FS=0.571;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=2.12;SOR=0.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485	20	0	1	0
chr21	42751177	42751177	G	A	exonic	PDE9A	.	nonsynonymous SNV	PDE9A:NM_001001580:exon3:c.G64A:p.D22N	.	.	419	1102	1	0	0	1	0.000453515	.	.	2391095	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.34	T	0.992	D	0.795	P	0.242	N	0.999	D	0.625	N	-0.37	T	-0.588	T	0.323	T	0.189	2.260	13.51	5.12	2.534	7.747	17.083	0.159	0.027633124615	0.0002	.	6.591e-05	0	0	0	0	8.993e-05	0.0011	6.057e-05	5.82e-05	9	154602	rs147667334	5.548e-05	5.746e-05	4.908e-05	6.195e-05	0.0007	4.549e-05	4.161e-05	0.0002	0.0001	5.983e-05	6.708e-05	0	0	0	0.0007	5.674e-05	9.946e-05	3.479e-05	5.262e-05	5.253e-05	2.573e-05	8.072e-05	7.355e-05	2.559e-05	1.832e-05	2.848e-05	1.859e-05	2.41e-05	0	6.557e-05	0	0	0	0.0034	7.355e-05	0	0	0.22	0.27080	T	0.36	0.24334	T	0.735	0.64738	P	0.274	0.57940	B	0.242436	0.15683	N	0.623481	0.99893	0.45716	D	1.975	0.53506	M	-0.37	0.70365	T	-1.82	0.44852	N	0.623	0.66959	-0.5883	0.65288	T	0.323	0.69186	T	10	0.36399668	0.52955	T	0.027633	0.50416	D	0.159	0.41286	.	.	0.733885847521	0.73150	0.5716090211623067	0.57088	0.504383993434	0.48721	0.519133031368	0.41504	T	0.052913	0.29296	T	-0.201349	0.20610	T	-0.311665	0.43478	T	0.155183345079422	0.17509	T	0.869313	0.57326	D	0.06737603	0.14585	0.07134647	0.15268	0.06737603	0.14585	0.07134647	0.15267	-10.943	0.86150	D	.	.	0.154	0.47360	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	3.849820	0.55766	23.7	0.98967717960739143	0.49461	0.99032	0.90231	D	AEFDBI	0.915077	0.87936	D	0.0956914950547686	0.46261	2.869254	0.183779951901531	0.48959	3.104973	0.999999999895268	0.74766	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	5.12	5.12	0.69459	7.796000	0.84458	7.340000	0.58244	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.225000	0.22599	0.0:0.0:1.0:0.0	17.083	0.86478	982	0.03397	3'5'-cyclic nucleotide phosphodiesterase, catalytic domain;3'5'-cyclic nucleotide phosphodiesterase, catalytic domain;.;.;.;.;.;.;.;.;.;3'5'-cyclic nucleotide phosphodiesterase, catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2283.98	33	chr21	42751177	.	G	A	2283.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.645e+00;DP=954;ExcessHet=0.0000;FS=0.524;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=-3.190e-01;SOR=0.714	GT:AD:DP:GQ:PL	0/1:95,100:195:99:2298,0,2318	20	0	1	0
chr21	42893344	42893344	C	G	exonic	NDUFV3	.	nonsynonymous SNV	NDUFV3:NM_001001503:exon1:c.C11G:p.P4R	.	.	415	1105	2	0	0	2	0.000904159	.	.	717228	NDUFV3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	0.019	B	0.01	B	0.436	N	1.000	N	1.1	L	.	.	-1.027	T	0.068	T	0.085	1.365	10.49	-0.215	-0.304	-0.590	3.975	0.014	0.00627527875211	0.0005	0.00199681	0.0026	0	0.0086	0	0	0.0031	0	0.0025	0.0004657	72	154602	rs77606940	0.0018	0.0018	0.0018	0.0019	0.0020	0.0018	0.0018	0.0019	0.0019	0.0002	0.0016	0.0016	5.602e-05	0.0004	0.0017	0.0020	0.0019	0.0020	0.0014	0.0014	0.0014	0.0014	0.0037	0.0012	0.0012	0.0024	0.0020	0.0006	0	0.0015	0.0009	0	0.0002	0	0.0020	0.0009	0.0037	0.606	0.26852	T	0.138	0.44905	T	0.019	0.17989	B	0.01	0.14941	B	0.436323	0.12684	N	0.709736	1	0.08975	N	0.345	0.11182	N	.	.	.	-1.03	0.43334	N	0.066	0.06059	-1.0274	0.21299	T	0.068	0.28047	T	9	0.0040231645	0.00078	T	0.006275	0.16464	T	0.014	0.01968	.	.	0.453588565359	0.44983	0.11823880422472202	0.11750	0.0923622216088	0.10425	0.497224807739	0.38442	T	0.015535	0.13011	T	-0.598739	0.00148	T	-0.638682	0.09766	T	0.000335014919983223	0.00003	T	0.39556	0.10744	T	0.050344184	0.09082	0.1288401	0.30989	0.050344184	0.09081	0.1288401	0.30988	-2.362	0.04906	T	.	.	0.105	0.19235	B	.;.	.;.	-0.217000	0.03005	0.455	0.71603708964178925	0.09685	0.05021	0.10802	N	AEFGBHCIJ	0.350770	0.44410	N	-1.15057535617241	0.05770	0.2639294	-1.21226183081146	0.05712	0.2729385	0.999999998290699	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.24	-0.215	0.12510	-0.215000	0.09284	-0.071000	0.12298	-0.952000	0.02027	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4747:0.175:0.3503	3.975	0.08962	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	540.98	33	chr21	42893344	.	C	G	540.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.526e+00;DP=723;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.02;ReadPosRankSum=-3.660e-01;SOR=0.735	GT:AD:DP:GQ:PL	0/1:20,25:45:99:555,0,478	20	0	1	0
chr21	43690435	43690435	G	A	exonic	RRP1B	.	nonsynonymous SNV	RRP1B:NM_015056:exon14:c.G2014A:p.V672I,	.	.	416	1080	24	2	0	28	0.0127971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.672	P	0.041	B	0.517	N	1.000	N	1.39	L	5.35	T	-0.902	T	0.004	T	0.034	0.126	4.678	2.15	0.230	-0.519	4.223	0.069	0.00795754443368	0.0002	0.00159744	0.0015	9.638e-05	0.0005	0	0	0.0005	0.0033	0.0085	0.0012354	191	154602	rs142326213	0.0007	0.0007	0.0005	0.0009	0.0082	0.0007	0.0007	0.0077	0.0075	8.962e-05	0.0005	0.0013	5.038e-05	5.617e-05	0.0060	0.0002	0.0007	0.0082	0.0004	0.0004	0.0003	0.0005	0.0066	0.0003	0.0003	0.0048	0.0042	0.0001	0	0.0001	0.0003	0.0002	0.0002	0.0034	0.0003	0	0.0066	.	.	.	0.753	0.04754	T	0.672	0.41203	P	0.041	0.23986	B	0.516562	0.05178	N	1.270780	1	0.08975	N	1.59	0.40313	L	5.35	0.01058	T	-0.18	0.09796	N	0.045	0.01740	-0.9017	0.47814	T	0.004	0.01226	T	10	0.0057523847	0.00128	T	0.007958	0.21110	T	0.069	0.20116	.	.	0.265929055128	0.26215	0.06834235276416198	0.06772	0.279175888564	0.30399	0.305982500315	0.11300	T	0.012483	0.10966	T	-0.722659	0.00027	T	-0.804428	0.01794	T	0.00880056850071434	0.00109	T	0.29847	0.05558	T	0.04093284	0.05935	0.030841341	0.01592	0.04093284	0.05935	0.030841341	0.01592	-5.674	0.43461	T	.	.	0.077	0.06387	B	.	.	0.313189	0.06882	3.417	0.24843930670115211	0.01118	0.05291	0.11136	N	AEFDGBCI	0.038740	0.05526	N	-0.618019420490096	0.18404	0.9551687	-0.71542264073988	0.16576	0.8775833	0.999999830660732	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.01	2.15	0.26590	-0.375000	0.07532	-4.008000	0.02397	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.030000	0.13115	0.0847:0.3064:0.4624:0.1466	4.223	0.10021	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4316.11	39	chr21	43690435	.	G	A	4316.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.945;DP=1047;ExcessHet=0.1072;FS=4.203;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=0.614;SOR=0.516	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	19	0	2	0
chr21	43789648	43789648	C	T	exonic	RRP1	.	nonsynonymous SNV	RRP1:NM_003683:exon1:c.C19T:p.L7F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.996	D	0.000	D	0.689	D	1.79	L	1.41	T	-0.602	T	0.165	T	0.334	3.495	17.87	4.41	1.996	1.322	13.912	0.102	0.145879259872	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1312463592	1.397e-06	2.736e-06	2.772e-06	0	1.82e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.82e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.51737	D	0.998	0.73220	D	0.996	0.84481	D	0.000002	0.62929	D	0.059221	0.68928	0.33310	D	1.87	0.49600	L	1.41	0.33412	T	-1.32	0.32991	N	0.281	0.31814	-0.6016	0.64751	T	0.165	0.50193	T	10	0.32368952	0.49703	T	0.145879	0.82804	D	0.102	0.29158	.	.	0.526943034955	0.52341	0.22124031686268955	0.22039	0.635307827515	0.57350	0.731229543686	0.71685	T	0.035783	0.23850	T	-0.127966	0.31824	T	-0.421591	0.30892	T	0.800905346870422	0.46415	D	0.772323	0.40326	T	0.6062824	0.73028	0.56276417	0.74698	0.6062824	0.73030	0.56276417	0.74699	-11.109	0.80252	D	.	.	0.187	0.40392	B	.	.	4.100775	0.61141	24.3	0.97796973136273646	0.36039	0.14209	0.18281	N	ALL	0.176642	0.30386	N	0.0927449146885481	0.46124	2.857766	-0.0834428330804492	0.36073	2.094783	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.41	4.41	0.52588	2.338000	0.43614	5.588000	0.48989	0.547000	0.25779	0.528000	0.27173	1.000000	0.68203	0.179000	0.21265	0.0:1.0:0.0:0.0	13.912	0.63375	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	556.98	40	chr21	43789648	.	C	T	556.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.301;DP=831;ExcessHet=0.0000;FS=0.898;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.23;ReadPosRankSum=-8.940e-01;SOR=0.578	GT:AD:DP:GQ:PL	0/1:51,26:77:99:571,0,1303	20	0	1	0
chr21	43797658	43797658	A	G	exonic	RRP1	.	nonsynonymous SNV	RRP1:NM_003683:exon7:c.A580G:p.I194V,	.	.	436	1050	34	2	0	38	0.0177736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.592	P	0.306	B	0.000	N	0.999	D	2.225	M	0.93	T	-1.048	T	0.082	T	0.063	0.874	8.544	1.02	-0.069	2.122	6.405	0.124	.	0.0067	0.00439297	0.0076	0.0086	0.0029	0	0.0035	0.0083	0.0089	0.0128	0.0070568	1091	154602	rs34224504	0.0065	0.0066	0.0063	0.0068	0.0144	0.0064	0.0064	0.0119	0.0110	0.0070	0.0039	0.0103	0	0.0037	0.0144	0.0065	0.0074	0.0115	0.0067	0.0068	0.0062	0.0073	0.0120	0.0064	0.0063	0.0095	0.0086	0.0081	0.0011	0.0063	0.0101	0	0.0029	0.0034	0.0066	0.0109	0.0120	.	.	.	0.052	0.47581	T	0.198	0.29589	B	0.068	0.27651	B	0.000014	0.62929	N	0.147144	0.998836	0.45528	D	1.65	0.42232	L	0.93	0.44065	T	-0.7	0.19933	N	0.108	0.09349	-1.0479	0.14988	T	0.082	0.32178	T	10	0.0061847866	0.00139	T	.	.	.	0.124	0.34239	.	.	0.228597637076	0.22478	0.1129430152115122	0.11222	0.396317032902	0.40747	0.324425399303	0.14091	T	0.007208	0.06625	T	-0.620224	0.00110	T	-0.653298	0.08724	T	0.00837291945576133	0.00101	T	0.738226	0.35599	T	0.40382156	0.60996	0.3074112	0.56763	0.40382156	0.60997	0.3074112	0.56762	-8.069	0.61540	D	.	.	0.075	0.05360	B	.	.	0.819982	0.11909	8.475	0.79996522551697846	0.12997	0.81082	0.40563	D	AEFDGBCI	0.103219	0.20685	N	-0.573273131429975	0.19761	1.036678	-0.63292922354271	0.18649	0.9971872	0.999574027058866	0.40495	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.77	1.02	0.19102	1.350000	0.33615	1.737000	0.28371	-0.065000	0.16512	0.992000	0.37556	0.461000	0.25002	0.088000	0.17685	0.6597:0.0:0.3403:0.0	6.405	0.20863	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	747.98	126	chr21	43797658	.	A	G	747.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.042e+00;DP=1888;ExcessHet=0.0000;FS=0.702;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.89;ReadPosRankSum=-1.460e+00;SOR=0.607	GT:AD:DP:GQ:PL	0/0:114,0:114:99:0,120,1800	20	0	1	0
chr21	44288401	44288401	G	A	exonic	AIRE	.	nonsynonymous SNV	AIRE:NM_000383:exon5:c.G595A:p.V199I,	Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, Autosomal recessive, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	133783	not_specified|Polyglandular_autoimmune_syndrome,_type_1|not_provided	MedGen:CN169374|MONDO:MONDO:0009411,MedGen:C0085859,OMIM:240300,Orphanet:3453|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.19	T	0.999	D	0.995	D	0.044	N	0.999	N	1.7	L	0.03	T	-0.885	T	0.211	T	0.072	2.150	13.15	0.359	0.291	0.549	3.330	0.084	.	0.0032	0.00399361	0.0012	0.0097	0.0021	0.0015	0	0.0002	0.0011	0	0.0011966	185	154602	rs74162061	0.0006	0.0006	0.0007	0.0006	0.0121	0.0006	0.0006	0.0111	0.0107	0.0121	0.0023	0	0.0007	0	0.0016	0.0002	0.0017	9.275e-05	0.0038	0.0038	0.0038	0.0038	0.0119	0.0035	0.0034	0.0110	0.0107	0.0119	0	0.0033	0	0.0008	0	0.0204	0.0002	0.0019	0.0004	0.083	0.33091	T	0.046	0.49120	D	0.999	0.77913	D	0.995	0.83170	D	0.044268	0.23655	N	0.203061	0.999997	0.08975	N	1.95	0.52479	M	0.03	0.62183	T	-0.25	0.11008	N	0.097	0.07811	-0.8854	0.49324	T	0.211	0.57081	T	10	0.008170009	0.00185	T	.	.	.	0.084	0.24469	.	.	0.500613528874	0.49698	0.09178501883863743	0.09111	0.163838910764	0.18484	0.456157565117	0.32785	T	0.246735	0.61625	T	-0.550025	0.00292	T	-0.552462	0.17091	T	0.00758200874009789	0.00088	T	0.625537	0.24174	T	0.060863804	0.12538	0.06903008	0.14491	0.060863804	0.12538	0.06903008	0.14491	-6.158	0.47582	T	0.1180283645890475	0.10847	0.075	0.05491	B	.	.	1.449698	0.18706	13.88	0.99664210724125457	0.78138	0.05199	0.11023	N	AEFDBI	0.073111	0.14614	N	-0.329207714825212	0.28043	1.543549	-0.572147104431313	0.20220	1.088423	0.987343792298573	0.31243	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.61	0.359	0.15324	0.111000	0.15292	-0.159000	0.11341	0.595000	0.32841	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.2627:0.2215:0.5158:0.0	3.330	0.06666	929	0.16858	SAND domain|SAND domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1675.98	37	chr21	44288401	.	G	A	1675.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.766;DP=959;ExcessHet=0.0000;FS=2.096;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=0.830;SOR=0.523	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1216	20	0	1	0
chr21	44291142	44291142	C	G	exonic	AIRE	.	nonsynonymous SNV	AIRE:NM_000383:exon8:c.C927G:p.I309M,	Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, Autosomal recessive, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	958977	Polyglandular_autoimmune_syndrome,_type_1|not_provided	MONDO:MONDO:0009411,MedGen:C0085859,OMIM:240300,Orphanet:3453|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.996	D	0.955	D	0.009	N	1.000	D	1.695	L	-2.21	D	0.472	D	0.696	D	0.675	3.458	17.71	3.86	1.878	0.910	11.703	0.734	0.051600594119	.	.	0.0001	0	0	0	0	0.0001	0	0.0004	9.06e-05	14	154602	rs74162062	0.0001	0.0001	0.0001	0.0001	0.0003	9.349e-05	8.831e-05	0.0002	0.0001	5.975e-05	0	0	0	0	0.0002	0.0001	9.94e-05	0.0003	0.0001	0.0001	0.0001	6.716e-05	0.0002	6.509e-05	5.321e-05	0.0001	7.899e-05	2.407e-05	0	6.534e-05	0	0	0	0	0.0002	0.0005	0.0002	0.003	0.68238	D	0.005	0.72224	D	0.968	0.56581	D	0.726	0.55126	P	0.009445	0.30355	N	0.149595	0.999666	0.48141	D	1.555	0.39373	L	-2.21	0.86963	D	-2.09	0.47683	N	0.653	0.66358	0.472	0.90148	D	0.696	0.89521	D	10	0.6621865	0.70218	D	0.051601	0.64730	D	0.734	0.90721	.	.	0.935899856031	0.93523	0.6584371286038074	0.65780	0.527928288861	0.50385	0.696090936661	0.66580	T	0.49769	0.81945	T	-0.0635664	0.42348	T	-0.0245376	0.68730	D	0.378336071968079	0.28119	T	0.939106	0.77081	D	0.82902205	0.85834	0.672839	0.80798	0.82902205	0.85836	0.672839	0.80799	-10.954	0.79405	D	0.6659994009639238	0.74024	0.596	0.68731	P	.	.	3.948354	0.57820	23.9	0.99488915186248639	0.67347	0.83499	0.42612	D	AEFDBI	0.358850	0.44938	N	0.378446090113252	0.60256	4.212547	0.3332935450562	0.57506	3.916637	0.999994053241565	0.74766	0.580535	0.33130	0	0.578056	0.33634	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.86	3.86	0.43689	0.478000	0.21922	1.637000	0.27771	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	11.703	0.50845	929	0.16858	Zinc finger, PHD-finger|Zinc finger, PHD-type, conserved site|Zinc finger, PHD-finger|Zinc finger, PHD-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3278.11	40	chr21	44291142	.	C	G	3278.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.320e-01;DP=915;ExcessHet=0.1072;FS=2.800;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.86;ReadPosRankSum=0.807;SOR=0.526	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1265	19	0	2	0
chr21	44330203	44330203	C	T	exonic	CFAP410	.	nonsynonymous SNV	CFAP410:NM_001271440:exon7:c.G763A:p.E255K	.	.	.	.	.	.	.	.	.	.	.	1342522	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.695	P	0.177	B	0.743	N	1.000	N	1.39	L	1.65	T	-0.951	T	0.087	T	0.339	2.483	14.26	-1.3	0.069	0.693	11.242	0.075	0.0271379695357	.	.	4.555e-05	0	0.0010	0	0	0	0	0	6.5e-06	1	154602	rs766177483	1.203e-05	1.436e-05	5.609e-06	1.858e-05	0.0001	7.33e-06	5.99e-06	5.697e-05	4.26e-05	0	2.573e-05	0	5.361e-05	2.378e-05	0	3.663e-06	0	0.0001	6.568e-06	6.566e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.022	0.57587	D	0.569	0.38523	P	0.086	0.29521	B	0.742591	0.06437	N	1.141290	1	0.08975	N	.	.	.	1.65	0.39401	T	-1.05	0.27463	N	0.293	0.37197	-0.9506	0.40868	T	0.087	0.33857	T	10	0.098065525	0.17706	T	0.027138	0.49983	D	0.075	0.21907	0.313	0.28774	0.21737058555	0.21362	0.12967920127339103	0.12892	0.0747609555444	0.08389	.	.	.	0.016743	0.13781	T	-0.304841	0.08211	T	-0.415981	0.31537	T	0.0817258717194605	0.10207	T	0.563744	0.19863	T	0.094886206	0.22319	0.0979178	0.23324	0.094886206	0.22319	0.0979178	0.23324	-6.39	0.49432	T	.	.	0.086	0.12560	B	.;.;.	.;.;.	2.449003	0.31530	18.77	0.97955450222514562	0.37136	0.68956	0.33999	D	AEFDBHCI	0.097777	0.19715	N	-0.694731171268233	0.16171	0.8215169	-0.780907496367059	0.14963	0.7845951	0.998697242298463	0.37477	0.634777	0.41761	0	0.606735	0.50208	0	0.643519	0.47002	0	0.592323	0.36904	0	.	.	4.85	-1.3	0.08777	0.913000	0.28233	0.935000	0.22809	-0.838000	0.02813	0.943000	0.32764	0.303000	0.24231	0.002000	0.04165	0.1335:0.2346:0.6319:0.0	11.242	0.48205	929	0.16858	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	999.98	33	chr21	44330203	.	C	T	999.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.967;DP=771;ExcessHet=0.0000;FS=8.939;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.71;ReadPosRankSum=-2.210e-01;SOR=1.773	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,947	20	0	1	0
chr21	44330725	44330725	A	C	exonic	CFAP410	.	nonsynonymous SNV	CFAP410:NM_001271441:exon6:c.T737G:p.V246G,	.	.	423	1095	2	0	2	4	0.000912409	.	.	1300581	not_provided|CFAP410-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.0	B	.	.	1.000	N	.	.	1.32	T	-1.017	T	0.047	T	0.065	0.327	5.775	.	0.336	-2.357	.	0.035	0.002457505785	.	.	0.0003	0	0	0	0	0.0002	0	0.0004	3.84e-05	1	26028	rs750020087	0.0005	0.0005	0.0005	0.0004	0.0005	0.0004	0.0004	0.0005	0.0005	9.511e-05	0	0	2.799e-05	2.08e-05	0.0002	0.0005	0.0006	0.0005	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0003	0	0	0	0	0	0	0	0.0004	0.0010	0.0002	0.141	0.25560	T	0.086	0.40909	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.32	0.35219	T	0.41	0.03407	N	0.165	0.17416	-1.0169	0.24722	T	0.047	0.20275	T	6	0.041692138	0.02849	T	0.002458	0.04868	T	0.035	0.08770	.	.	0.0762999501168	0.06990	0.22794923434838618	0.22709	0.0853582528376	0.09647	.	.	.	.	.	.	-0.578476	0.00197	T	-0.734567	0.04123	T	0.00746472569067086	0.00086	T	0.0982902	0.00729	T	.	.	.	.	.	.	.	.	-6.145	0.47477	T	.	.	0.058	0.00681	B	.	.	0.246472	0.06261	2.716	0.82854710379441743	0.14410	0.01425	0.04802	N	AEFDBCI	0.022418	0.01119	N	-1.17894961244584	0.05319	0.2421863	-1.33059016686595	0.04040	0.1897337	0.999827307661184	0.43622	0.634777	0.41761	0	0.643519	0.57511	0	0.564498	0.18976	0	0.664235	0.64389	0	.	.	.	.	.	-1.177000	0.03206	0.068000	0.14222	-0.618000	0.04565	0.004000	0.16614	0.005000	0.19230	0.005000	0.06747	.	.	.	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1938.98	33	chr21	44330725	.	A	C	1938.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.456;DP=975;ExcessHet=0.0000;FS=1.190;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=0.419;SOR=0.588	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1477	20	0	1	0
chr21	44331928	44331928	C	T	exonic	CFAP410	.	nonsynonymous SNV	CFAP410:NM_001271440:exon5:c.G460A:p.G154S	.	.	378	1137	7	0	0	7	0.00306883	.	.	742684	not_provided|CFAP410-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.76	T	0.01	B	0.002	B	0.029	N	1.000	N	-0.145	N	1.76	T	-1.068	T	0.030	T	0.166	0.707	7.769	-1.3	-0.528	-0.031	1.183	0.009	0.00551238391852	7.7e-05	0.000599042	0.0010	0	0	0	0	0.0001	0.0024	0.0064	0.0007633	118	154602	rs377579876	0.0004	0.0004	0.0002	0.0006	0.0064	0.0004	0.0004	0.0059	0.0057	0.0001	0	0	0	0	0.0017	2.069e-05	0.0004	0.0064	0.0005	0.0005	0.0004	0.0006	0.0041	0.0004	0.0004	0.0027	0.0023	4.809e-05	0.0526	0	0	0.0002	0	0	2.939e-05	0	0.0041	0.427	0.09629	T	0.409	0.14588	T	0.001	0.07471	B	0.0	0.01387	B	0.029143	0.01697	N	2.109080	1	0.08975	N	.	.	.	1.73	0.32722	T	0.37	0.03761	N	0.071	0.04668	-1.0677	0.09926	T	0.030	0.12717	T	10	0.004271686	0.00086	T	0.005512	0.14197	T	0.009	0.00846	.	.	0.119812018005	0.11559	0.16648742747243706	0.16568	0.0657666337503	0.07340	.	.	.	0.003414	0.02819	T	-0.597115	0.00152	T	-0.627184	0.10628	T	0.00919018953730051	0.00116	T	0.366763	0.08556	T	0.037275612	0.04748	0.03296603	0.02115	0.02501678	0.01392	0.029821888	0.01364	-2.841	0.10159	T	0.09201288251395097	0.05900	0.075	0.05668	B	.;.;.	.;.;.	0.080231	0.04866	1.456	0.68493253382960051	0.08675	0.03540	0.08735	N	AEFDBHCI	0.051305	0.09051	N	-1.46776666855986	0.02081	0.09151854	-1.46274668924659	0.02657	0.1225782	0.999999803414918	0.74766	0.660377	0.49826	0	0.606735	0.50208	0	0.606735	0.37207	0	0.592323	0.36904	0	.	.	4.54	-1.3	0.08777	0.006000	0.13051	-0.108000	0.11862	-0.644000	0.04415	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.406:0.1502:0.2971:0.1467	1.183	0.01736	929	0.16858	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	990.98	34	chr21	44331928	.	C	T	990.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.511e+00;DP=818;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.39;ReadPosRankSum=-7.480e-01;SOR=0.756	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1097	20	0	1	0
chr21	44382733	44382733	C	T	exonic	TRPM2	.	nonsynonymous SNV	TRPM2:NM_001320350:exon9:c.C1231T:p.R411W	.	.	422	1097	3	0	0	3	0.0013655	.	.	2298812	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.988	D	0.000	D	1.000	D	2.42	M	1.28	T	-0.678	T	0.213	T	0.581	3.494	17.86	3.24	0.832	1.762	11.941	0.259	0.0879305216929	0.0005	0.000199681	0.0004	0.0002	9.161e-05	0	0	0.0006	0.0012	0.0005	0.0003558	55	154602	rs148140272	0.0004	0.0004	0.0004	0.0004	0.0014	0.0004	0.0004	0.0007	0.0005	8.961e-05	0.0001	0.0047	5.038e-05	1.872e-05	0.0014	0.0004	0.0005	0.0006	0.0003	0.0003	0.0002	0.0004	0.0004	0.0002	0.0002	0.0003	0.0002	9.628e-05	0	6.539e-05	0.0029	0	0	0	0.0004	0.0009	0.0004	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.988	0.77976	D	0.000010	0.62929	D	0.065221	0.99992	0.51308	D	3.05	0.86762	M	1.28	0.35960	T	-5.09	0.83625	D	0.738	0.75101	-0.6783	0.61451	T	0.213	0.57347	T	10	0.02790603	0.00929	T	0.087931	0.75033	D	0.259	0.57090	.	.	0.656780015411	0.65391	0.6178090240101566	0.61713	0.626554708232	0.56783	0.775871157646	0.78306	T	0.718247	0.92017	D	-0.246022	0.14591	T	-0.269204	0.47899	T	0.13012198489505	0.15393	T	0.940206	0.77922	D	0.67290294	0.76588	0.43362176	0.66909	0.67290294	0.76589	0.43362176	0.66909	-6.318	0.48864	T	.	.	0.160	0.35414	B	.;.;.;.	.;.;.;.	5.144670	0.86141	28.8	0.99903257822259284	0.97426	0.78438	0.38698	D	AEFBI	0.754298	0.69421	D	0.445291966844488	0.63935	4.637349	0.347566226146323	0.58360	4.006195	0.00149244565663596	0.08586	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.14	3.24	0.36257	1.403000	0.34220	3.134000	0.36454	0.537000	0.25018	0.997000	0.40164	0.997000	0.33255	0.977000	0.56843	0.1735:0.8265:0.0:0.0	11.941	0.52188	900	0.24599	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	912.98	66	chr21	44382733	.	C	T	912.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=760;ExcessHet=0.0000;FS=1.998;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=0.141;SOR=0.484	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1113	20	0	1	0
chr21	44405166	44405166	G	A	exonic	TRPM2	.	nonsynonymous SNV	TRPM2:NM_001320350:exon17:c.G2563A:p.G855R	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.89	P	0.303	B	0.002	N	0.661	D	2.155	M	0.04	T	-0.750	T	0.176	T	0.324	2.196	13.30	1.57	0.096	4.013	6.000	0.152	0.115550850473	.	.	0.0001	0	0	0	0	7.612e-05	0	0.0005	0.0001294	20	154602	rs144022462	8.692e-05	8.687e-05	7.899e-05	9.493e-05	0.0003	7.424e-05	6.972e-05	0.0002	0.0002	8.961e-05	6.71e-05	0	0	0	0.0003	7.824e-05	9.937e-05	0.0003	8.536e-05	8.53e-05	7.708e-05	9.4e-05	0.0006	4.954e-05	3.96e-05	0.0002	8.992e-05	2.406e-05	0	6.539e-05	0	0	0	0	0.0001	0	0.0006	0.049	0.40832	D	0.044	0.50514	D	0.604	0.42679	P	0.235	0.38432	B	0.002438	0.36574	N	0.225132	0.660838	0.33050	D	2.295	0.65404	M	0.04	0.62051	T	-2.83	0.62747	D	0.442	0.51672	-0.7502	0.57925	T	0.176	0.52084	T	10	0.25166696	0.42510	T	0.115551	0.79477	D	0.152	0.39956	0.501	0.59304	0.523444149082	0.51990	0.654794290628263	0.65415	0.464884179934	0.45942	0.501400232315	0.39023	T	0.670408	0.90211	D	-0.30014	0.08646	T	-0.332648	0.41174	T	0.449611186981201	0.30783	T	0.812719	0.46458	T	0.39462492	0.60358	0.24724361	0.50250	0.39462492	0.60359	0.24724361	0.50249	-5.418	0.50325	T	.	.	0.26	0.57104	B	.;.;.;.	.;.;.;.	3.682777	0.52433	23.2	0.98769561458454413	0.45955	0.85236	0.44351	D	AEFGBI	0.447315	0.50301	N	-0.1354472814392	0.35856	2.064908	-0.204295897864463	0.31382	1.775467	0.050506761713773	0.14841	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.564101	0.26826	0	.	.	4.55	1.57	0.22490	4.555000	0.60477	5.427000	0.48582	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.571000	0.30675	0.0754:0.1359:0.6479:0.1408	6.000	0.18744	846	0.36215	Ion transport domain;Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1644.98	38	chr21	44405166	.	G	A	1644.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.846;DP=865;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.28;ReadPosRankSum=0.320;SOR=0.651	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1287	20	0	1	0
chr21	44539415	44539415	T	C	exonic	KRTAP10-1	.	nonsynonymous SNV	KRTAP10-1:NM_198691:exon1:c.A736G:p.M246V,	.	.	376	1144	2	0	0	2	0.000873362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-1.98	N	5.15	T	-1.006	T	0.006	T	0.115	-1.254	0.050	2.13	1.018	-0.139	8.161	0.039	.	0.0024	0.0061901	0.0027	0.0049	0.0025	0.0188	0.0003	0.0009	0.0011	0.0013	0.0024062	372	154602	rs147442908	0.0015	0.0015	0.0015	0.0014	0.0239	0.0014	0.0014	0.0226	0.0221	0.0056	0.0027	0.0040	0.0239	0.0002	0.0005	0.0005	0.0021	0.0008	0.0030	0.0030	0.0030	0.0029	0.0181	0.0028	0.0027	0.0151	0.0140	0.0058	0	0.0031	0.0052	0.0181	9.508e-05	0.0068	0.0005	0.0048	0.0012	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.775	0.00026	N	5.15	0.01198	T	2.07	0.00375	N	0.05	0.02179	-1.0060	0.28156	T	0.006	0.02055	T	9	0.004144132	0.00082	T	.	.	.	0.084	0.24469	.	.	0.117506650769	0.11410	0.029886105557788454	0.02937	0.152316728517	0.17189	0.225969851017	0.01683	T	0.001636	0.01065	T	-0.715362	0.00030	T	-0.786065	0.02275	T	0.0058953990354577	0.00065	T	0.0382962	0.00264	T	0.046574116	0.07817	0.07941723	0.17877	0.046574116	0.07817	0.07941723	0.17877	2.894	0.00023	T	.	.	0.046	0.00054	B	.	.	-1.031802	0.00727	0.022	0.28855652487680794	0.01502	0.00040	0.00335	N	AEFBI	0.017418	0.00455	N	-1.07245889153555	0.07154	0.3314993	-1.06991178548566	0.08298	0.4073496	0.00117747460650372	0.08304	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.97	2.13	0.26445	-0.586000	0.05880	-6.102000	0.01496	-1.039000	0.01670	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7889:0.0:0.2111	8.161	0.30359	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	8478.11	92	chr21	44539415	.	T	C	8478.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.80;DP=1975;ExcessHet=0.1072;FS=8.905;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.49;MQRankSum=-8.880e-01;QD=22.79;ReadPosRankSum=0.377;SOR=0.409	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:101,0:101:99:.:.:0,120,1800	19	0	2	0
chr21	44540050	44540050	A	G	exonic	KRTAP10-1	.	nonsynonymous SNV	KRTAP10-1:NM_198691:exon1:c.T101C:p.L34P,	.	.	394	1111	15	2	0	19	0.00847836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	0.992	D	-3.29	N	3.64	T	-0.941	T	0.002	T	0.215	0.014	4.085	1.46	0.252	1.227	9.354	0.092	0.00846627927985	0.0007	0.00139776	0.0003	0.0018	0.0002	0.0002	0	0.0001	0	0.0004	0.0003234	50	154602	rs200714107	0.0002	0.0002	0.0002	0.0002	0.0034	0.0002	0.0001	0.0022	0.0018	0.0016	0.0004	3.83e-05	7.559e-05	3.746e-05	0.0034	7.106e-05	0.0006	0.0004	0.0006	0.0006	0.0005	0.0006	0.0014	0.0005	0.0004	0.0011	0.0010	0.0014	0	0.0008	0	0.0006	0	0	5.885e-05	0.0005	0.0012	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.991638	0.41436	D	-3.62	0.00002	N	3.64	0.04309	T	7.96	0.00001	N	0.108	0.09349	-0.9407	0.42505	T	0.002	0.00676	T	9	0.009858936	0.00221	T	0.008466	0.22407	T	0.092	0.26621	.	.	0.128392430309	0.12331	0.027897884915079402	0.02739	0.245867236024	0.27115	0.236011475325	0.02442	T	0.002097	0.01499	T	-0.62718	0.00100	T	-0.680462	0.06956	T	0.0100642158073704	0.00135	T	0.029797	0.00186	T	0.04090728	0.05925	0.11921703	0.28775	0.04090728	0.05925	0.11921703	0.28775	4.206	0.00007	T	.	.	0.034	0.00003	B	.	.	-0.185480	0.03164	0.516	0.85015568218554582	0.15634	0.00140	0.00856	N	AEFBI	0.010431	0.00075	N	-1.67656812146517	0.00928	0.04019491	-1.44471585467828	0.02818	0.1303358	1.59635401701515E-5	0.02871	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	3.3	1.46	0.21769	0.412000	0.20852	2.252000	0.31695	-1.486000	0.01052	0.133000	0.23395	0.419000	0.24798	0.002000	0.04165	0.1223:0.0:0.8777:0.0	9.354	0.37320	970	0.06235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4020.11	37	chr21	44540050	.	A	G	4020.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.662e+00;DP=1245;ExcessHet=0.1072;FS=1.343;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.76;MQRankSum=0.00;QD=12.93;ReadPosRankSum=1.99;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,103,1286	19	0	2	0
chr21	44540129	44540129	C	T	exonic	KRTAP10-1	.	nonsynonymous SNV	KRTAP10-1:NM_198691:exon1:c.G22A:p.V8I,	.	.	410	1091	21	0	0	21	0.00953246	.	.	363826	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.4	T	0.027	B	0.003	B	.	.	1.000	N	1.46	L	3.06	T	-0.947	T	0.009	T	0.061	-0.097	3.526	0.59	-0.129	-0.305	5.907	0.030	.	0.0073	0.00958466	0.0039	0.0179	0.0011	0.0013	0	0.0020	0.0011	0.0082	0.0037451	579	154602	rs11910525	0.0021	0.0021	0.0019	0.0022	0.0219	0.0020	0.0020	0.0206	0.0200	0.0219	0.0014	0.0041	0.0009	0.0005	0.0092	0.0010	0.0031	0.0076	0.0063	0.0063	0.0065	0.0060	0.0186	0.0059	0.0058	0.0175	0.0171	0.0186	0	0.0018	0.0037	0.0006	0.0008	0.0102	0.0012	0.0043	0.0083	0.388	0.10909	T	0.336	0.18232	T	0.027	0.19556	B	0.003	0.08700	B	.	.	.	.	1	0.81001	D	1.26	0.31868	L	3.06	0.08634	T	-0.65	0.18877	N	0.099	0.08088	-0.9474	0.41414	T	0.009	0.03271	T	9	0.004553348	0.00094	T	.	.	.	0.030	0.07022	.	.	0.168933306366	0.16529	0.025932248768890175	0.02544	0.152673835777	0.17223	0.251102715731	0.03885	T	0.002721	0.02115	T	-0.727611	0.00025	T	-0.802344	0.01844	T	0.000572520467392367	0.00005	T	0.244176	0.03564	T	0.022773886	0.00963	0.032454368	0.01983	0.022773886	0.00963	0.032454368	0.01983	-6.308	0.48785	T	.	.	0.081	0.08320	B	.	.	-0.189160	0.03147	0.508	0.83860037986485758	0.14961	0.11888	0.16925	N	AEFBI	0.050071	0.08715	N	-1.03471315158519	0.07890	0.3681103	-1.0256342080835	0.09223	0.4576485	1.20649791263521E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.71	0.59	0.16642	-0.867000	0.04349	-7.925000	0.01060	-0.990000	0.01853	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.0:0.5141:0.3729:0.113	5.907	0.18246	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.04762	5779.11	37	chr21	44540129	.	C	T	5779.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.47;DP=1205;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=1.29;SOR=0.667	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,103,1286	19	0	2	0
chr21	44550748	44550748	G	-	exonic	KRTAP10-2	.	frameshift deletion	KRTAP10-2:NM_198693:exon1:c.711delC:p.V238Cfs*108,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2787.94	34	chr21	44550747	.	CG	C	2787.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.290e-01;DP=1084;ExcessHet=0.0000;FS=6.114;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=0.720;SOR=0.409	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1427	20	0	1	0
chr21	44551199	44551199	G	A	exonic	KRTAP10-2	.	nonsynonymous SNV	KRTAP10-2:NM_198693:exon1:c.C260T:p.P87L,	.	.	390	1058	74	0	0	74	0.03379	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.496	P	0.028	B	.	.	1.000	D	2.7	M	4.79	T	-1.052	T	0.009	T	0.191	2.297	13.64	3.78	1.655	0.402	7.341	0.144	.	.	.	0.0063	0.0373	0.0030	0.0004	0.0020	0.0037	0.0069	0.0070	.	.	.	rs782662252	0.0001	0.0025	0.0001	0.0002	0.0039	0.0001	0.0001	0.0026	0.0022	0.0011	6.75e-05	0.0002	0	0.0003	0.0039	6.355e-05	0.0003	0.0002	0.0002	0.0005	0.0002	0.0001	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0	6.534e-05	0	0	0	0	7.359e-05	0.0005	0.0004	0.048	0.40068	D	0.054	0.47097	T	0.496	0.37079	P	0.028	0.21332	B	.	.	.	.	0.999997	0.58761	D	2.955	0.85029	M	4.79	0.01539	T	-8.16	0.96764	D	0.142	0.14196	-1.0517	0.13926	T	0.009	0.03140	T	9	0.0026210248	0.00040	T	.	.	.	0.144	0.38394	.	.	0.115124310173	0.11017	0.058596013291031285	0.05800	0.0569786958454	0.06297	0.231011360884	0.02044	T	0.098362	0.40211	T	-0.217652	0.18314	T	-0.550418	0.17286	T	0.0714130140069768	0.08848	T	0.135986	0.01074	T	0.16945645	0.37463	0.19798742	0.43608	0.16945645	0.37462	0.19798742	0.43607	-8.881	0.66927	D	.	.	0.091	0.12985	B	.	.	1.985553	0.25224	16.69	0.98047557513349581	0.37843	0.09523	0.15260	N	AEFBHCI	0.025694	0.01804	N	-0.166923876976934	0.34517	1.97114	-0.200978984489683	0.31502	1.783383	0.999596117638775	0.40745	0.615755	0.39536	0	0.59043	0.45803	0	0.618376	0.41669	0	0.542086	0.14980	0	.	.	3.78	3.78	0.42629	1.788000	0.38346	0.844000	0.22071	-0.112000	0.15009	0.054000	0.21560	0.001000	0.17328	0.845000	0.39915	0.1246:0.0:0.8754:0.0	7.341	0.25809	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	362.98	182	chr21	44551199	.	G	A	362.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.444e+00;DP=3305;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.68;MQRankSum=-9.047e+00;QD=1.46;ReadPosRankSum=4.80;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:113,0:113:99:.:.:0,120,1800	20	0	1	0
chr21	44558145	44558145	G	T	exonic	KRTAP10-3	.	nonsynonymous SNV	KRTAP10-3:NM_198696:exon1:c.C571A:p.P191T,	.	.	391	1124	6	1	0	8	0.0035461	.	.	2331906	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.535	P	0.115	B	.	.	1.000	N	1.63	L	5.89	T	-0.919	T	0.003	T	0.331	0.844	8.410	2.75	1.792	1.543	10.514	0.099	0.00325963267996	.	0.000199681	0.0006	0.0003	8.706e-05	0	0	0.0005	0.0022	0.0019	0.0004657	72	154602	rs201268694	0.0003	0.0003	0.0003	0.0004	0.0080	0.0003	0.0003	0.0062	0.0055	0.0002	8.968e-05	0.0008	2.521e-05	0	0.0080	0.0002	0.0005	0.0019	0.0002	0.0002	0.0001	0.0002	0.0015	0.0001	0.0001	0.0007	0.0005	2.406e-05	0	0.0001	0.0006	0	0	0	0.0002	0.0009	0.0015	0.025	0.47320	D	0.076	0.42614	T	0.535	0.37805	P	0.115	0.31843	B	.	.	.	.	1	0.81001	D	2.085	0.57729	M	5.89	0.00629	T	-5.66	0.87063	D	0.272	0.30800	-0.9188	0.45716	T	0.003	0.01059	T	9	0.018901676	0.00416	T	0.00326	0.07207	T	0.099	0.28413	.	.	0.232513804876	0.22884	0.08514950096663022	0.08448	0.0273854286493	0.02796	0.242790952325	0.03047	T	0.132764	0.46305	T	-0.504057	0.00543	T	-0.503604	0.21973	T	0.0376645570602941	0.03273	T	0.476852	0.14330	T	0.20139806	0.42150	0.27671713	0.53619	0.20139806	0.42149	0.27671713	0.53618	-9.72	0.72218	D	.	.	0.086	0.10787	B	.	.	2.217758	0.28299	17.75	0.98233316429246365	0.39414	0.32514	0.24604	N	AEFBI	0.059726	0.11301	N	-0.254224545440916	0.30935	1.729708	-0.288808693841663	0.28466	1.58741	0.796207381363339	0.24104	0.497415	0.19182	0	0.59043	0.45803	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	3.74	2.75	0.31439	1.040000	0.29888	0.284000	0.16799	0.672000	0.70159	0.730000	0.28923	0.000000	0.08366	0.089000	0.17737	0.0:0.1993:0.8007:0.0	10.514	0.44068	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	4291.11	45	chr21	44558145	.	G	T	4291.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-6.650e-01;DP=989;ExcessHet=0.1072;FS=1.452;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.65;ReadPosRankSum=0.151;SOR=0.809	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1207	19	0	2	0
chr21	44558614	44558626	GGTGGCGCAGCAG	-	exonic	KRTAP10-3	.	frameshift deletion	KRTAP10-3:NM_198696:exon1:c.90_102del:p.C31Afs*9,	.	.	400	1117	5	0	0	5	0.00223314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020	0.0003	0.0003	0	0.0097	0.0016	0.0067	0.0035	0.0002689	7	26028	rs781818625	0.0014	0.0014	0.0013	0.0016	0.0041	0.0014	0.0014	0.0037	0.0036	0.0002	0.0002	0.0005	2.521e-05	0.0101	0.0014	0.0010	0.0013	0.0041	0.0014	0.0014	0.0009	0.0020	0.0033	0.0013	0.0012	0.0021	0.0017	9.665e-05	0	6.547e-05	0	0	0.0112	0	0.0012	0.0005	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2332.94	131	chr21	44558613	.	TGGTGGCGCAGCAG	T	2332.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.18;DP=2457;ExcessHet=0.0000;FS=3.127;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.19;MQRankSum=-9.890e-01;QD=17.81;ReadPosRankSum=-3.540e-01;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:109,0:109:99:.:.:0,120,1800	20	0	1	0
chr21	44558616	44558616	T	0	exonic	KRTAP10-3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	99920.15	123	chr21	44558616	.	T	G,*	99920.15	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=0.718;DP=2610;ExcessHet=0.3300;FS=0.992;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.23;MQRankSum=-1.477e+00;QD=30.87;ReadPosRankSum=0.806;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,117,0:117:99:1|1:44558605_G_A:5217,352,0,5217,352,5217:44558605	0	17	3	0
chr21	44558620	44558620	G	0	exonic	KRTAP10-3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	97991.64	126	chr21	44558620	.	G	A,*	97991.64	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=1.53;DP=2612;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.24;MQRankSum=-8.900e-01;QD=32.40;ReadPosRankSum=0.868;SOR=0.790	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,118,0:118:99:1|1:44558605_G_A:5256,355,0,5256,355,5256:44558605	0	17	3	0
chr21	44580407	44580407	G	A	exonic	KRTAP10-5	.	nonsynonymous SNV	KRTAP10-5:NM_198694:exon1:c.C172T:p.P58S,	.	.	390	1109	23	0	0	23	0.0102633	.	.	2821831	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.55	T	0.001	B	0.0	B	.	.	1.000	N	1.28	L	5.73	T	-0.928	T	0.002	T	0.153	-1.731	0.011	-3.38	-0.454	-0.976	3.007	0.027	.	0.0066	0.00299521	0.0077	0.0016	0.0057	0	0.0044	0.0116	0.0078	0.0023	0.0074385	1150	154602	rs142526502	0.0099	0.0099	0.0100	0.0099	0.0113	0.0098	0.0097	0.0112	0.0111	0.0016	0.0065	0.0147	2.519e-05	0.0054	0.0088	0.0113	0.0102	0.0026	0.0075	0.0076	0.0076	0.0075	0.0114	0.0072	0.0070	0.0107	0.0104	0.0019	0.0461	0.0059	0.0179	0	0.0068	0.0102	0.0114	0.0099	0.0015	0.142	0.25457	T	0.095	0.39492	T	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	5.73	0.00718	T	-2.81	0.59389	D	0.079	0.05414	-0.9285	0.44357	T	0.002	0.00497	T	9	0.0028358698	0.00045	T	.	.	.	0.027	0.05988	.	.	0.0297737177859	0.01360	0.058203538808827004	0.05761	0.0307842991573	0.03180	0.221587747335	0.01403	T	.	.	.	-0.635277	0.00089	T	-0.67492	0.07296	T	0.004378722821312	0.00047	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.06942	B	.	.	0.973736	0.13511	10.03	0.62087073659198166	0.06873	0.00463	0.02227	N	AEFDBHCI	0.019251	0.00652	N	-1.47854327232773	0.02002	0.08795339	-1.59303291065284	0.01697	0.07712247	0.996324462439877	0.34669	0.615755	0.39536	0	0.573888	0.26702	0	0.618376	0.41669	0	0.542086	0.14980	0	.	.	1.99	-3.38	0.04577	-0.498000	0.06502	-0.806000	0.07354	-1.512000	0.01014	0.000000	0.06391	0.000000	0.08366	0.042000	0.14466	0.4693:0.2339:0.2968:0.0	3.007	0.05665	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2167.98	41	chr21	44580407	.	G	A	2167.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.746e+00;DP=1635;ExcessHet=0.0000;FS=0.575;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.95;MQRankSum=-1.063e+00;QD=13.06;ReadPosRankSum=0.332;SOR=0.771	GT:AD:DP:GQ:PL	0/1:89,77:166:99:2182,0,2571	20	0	1	0
chr21	44592059	44592196	CTGGCAGCTAGACTGCTGGCAGCATGAAGAATCCCCACAGCAGACGGACACACAGCACACAGGCTTGCAGCAGACAGTCTTGCAGCAGACGGGCACGCAGCAGGCCTGCTGGCAGGGGGAGGAGGCACAGCAAGCCAG	-	exonic	KRTAP10-6	.	nonframeshift deletion	KRTAP10-6:NM_198688:exon1:c.289_426del:p.L97_Q142del,	.	.	413	1103	6	0	0	6	0.00271248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0003	0.0003	0	0	0.0005	0	0.0002	.	.	.	.	0.0044	0.0043	0.0044	0.0044	0.0077	0.0043	0.0043	0.0058	0.0052	0.0019	0.0041	0.0017	2.62e-05	0.0025	0.0077	0.0048	0.0051	0.0031	0.0037	0.0033	0.0040	0.0034	0.0057	0.0034	0.0033	0.0052	0.0050	0.0018	0	0.0026	0.0010	0.0003	0.0018	0	0.0057	0.0061	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1818.94	36	chr21	44592058	.	ACTGGCAGCTAGACTGCTGGCAGCATGAAGAATCCCCACAGCAGACGGACACACAGCACACAGGCTTGCAGCAGACAGTCTTGCAGCAGACGGGCACGCAGCAGGCCTGCTGGCAGGGGGAGGAGGCACAGCAAGCCAG	A	1818.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.201;DP=2448;ExcessHet=0.0000;FS=10.329;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.83;MQRankSum=3.90;QD=9.89;ReadPosRankSum=-7.551e+00;SOR=0.270	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,104,1636	20	0	1	0
chr21	44592106	44592106	A	0	exonic	KRTAP10-6	.	.	.	.	.	444	939	103	35	1	174	0.0843491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	4312.68	36	chr21	44592106	.	A	G,*	4312.68	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=7.63;DP=2486;ExcessHet=0.9430;FS=27.882;InbreedingCoeff=0.0102;MLEAC=8,1;MLEAF=0.190,0.024;MQ=47.62;MQRankSum=-8.105e+00;QD=2.89;ReadPosRankSum=-1.139e+00;SOR=2.591	GT:AD:DP:GQ:PL	0/0:43,0,0:43:99:0,104,1636,104,1636,1636	13	0	7	0
chr21	44600767	44600767	-	CA	exonic	KRTAP10-7	.	frameshift insertion	KRTAP10-7:NM_198689:exon1:c.146_147insCA:p.A50Rfs*5,	.	.	398	1104	3	0	17	20	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0013	0.0003	0.0003	0.0025	0.0003	0.0002	0.0021	0.0019	0.0017	6.746e-05	0.0005	0.0025	0.0002	0	9.306e-05	0.0005	0.0012	0.0014	0.0054	0.0012	0.0016	0.0032	0.0013	0.0012	0.0027	0.0026	0.0032	0.0011	0.0009	0.0006	0.0023	0.0014	0	0.0005	0.0020	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	408.07	37	chr21	44600767	.	C	CCA	408.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.28;DP=1122;ExcessHet=0.1072;FS=46.102;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=57.63;MQRankSum=-1.444e+00;QD=2.08;ReadPosRankSum=-3.258e+00;SOR=4.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1336	19	0	2	0
chr21	44600768	44600768	-	CTGCTGC	exonic	KRTAP10-7	.	frameshift insertion	KRTAP10-7:NM_198689:exon1:c.147_148insCTGCTGC:p.A50Lfs*26,	.	.	408	1098	8	1	7	17	0.00453309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0013	0.0002	0.0002	0.0024	0.0002	0.0002	0.0020	0.0018	0.0014	2.305e-05	0.0004	0.0024	0.0002	0	7.187e-05	0.0004	0.0010	0.0013	0.0060	0.0011	0.0014	0.0032	0.0011	0.0010	0.0026	0.0024	0.0032	0.0012	0.0008	0.0003	0.0023	0.0012	0	0.0004	0.0023	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	409.51	37	chr21	44600768	.	G	GCTGCTGC	409.51	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.03;DP=1112;ExcessHet=0.1072;FS=46.102;InbreedingCoeff=-0.0769;MLEAC=2;MLEAF=0.053;MQ=57.75;MQRankSum=-1.444e+00;QD=2.09;ReadPosRankSum=-3.792e+00;SOR=4.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1336	17	0	2	2
chr21	44600992	44600992	A	G	exonic	KRTAP10-7	.	nonsynonymous SNV	KRTAP10-7:NM_198689:exon1:c.A371G:p.Y124C,	.	.	400	1120	2	0	0	2	0.000892061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	0.997	N	-1.32	N	6.12	T	-0.956	T	0.001	T	0.117	-0.641	1.169	1.41	-0.047	0.740	6.766	0.045	0.00177366407245	0.0007	.	0.0010	0.0016	0.0003	0.0003	0	5.993e-05	0	0.0056	0.0009989	26	26028	rs233308	0.0004	0.0007	0.0003	0.0005	0.0041	0.0004	0.0003	0.0038	0.0036	0.0022	9.002e-05	7.739e-05	0.0002	1.873e-05	0.0007	6.119e-05	0.0008	0.0041	0.0008	0.0030	0.0009	0.0008	0.0035	0.0007	0.0007	0.0022	0.0019	0.0024	0	0.0005	0	0	0	0	0.0001	0.0010	0.0035	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	0.997054	0.43598	D	.	.	.	.	.	.	.	.	.	0.093	0.07262	-0.9557	0.39970	T	0.001	0.00287	T	9	0.009441346	0.00213	T	0.001774	0.03012	T	.	.	.	.	0.44318313171	0.43938	0.034987585274720984	0.03445	.	.	0.238280236721	0.02637	T	.	.	.	-0.593468	0.00160	T	-0.618288	0.11319	T	0.000101533842098434	0.00001	T	0.00217578	0.00005	T	0.06432147	0.13634	0.07265843	0.15702	0.06432147	0.13634	0.07265843	0.15701	1.845	0.00060	T	.	.	0.059	0.00793	B	.	.	0.276085	0.06533	3.017	0.51907744867553907	0.04649	0.00279	0.01508	N	AEFDBI	0.012352	0.00132	N	-1.40052402262657	0.02635	0.1166113	-1.28660371055326	0.04610	0.2178882	0.113434485259947	0.16708	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	3.43	1.41	0.21461	1.001000	0.29384	0.160000	0.15395	-0.312000	0.06069	0.065000	0.21925	0.001000	0.17328	0.009000	0.08673	0.1048:0.3382:0.557:0.0	6.766	0.22755	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1752.98	37	chr21	44600992	.	A	G	1752.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.875e+00;DP=2228;ExcessHet=0.0000;FS=1.016;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.32;MQRankSum=-1.374e+01;QD=7.10;ReadPosRankSum=0.466;SOR=0.771	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1336	20	0	1	0
chr21	44612740	44612740	C	T	exonic	KRTAP10-8	.	nonsynonymous SNV	KRTAP10-8:NM_198695:exon1:c.C640T:p.R214C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.995	D	0.684	P	.	.	0.997	D	2.765	M	4.84	T	-1.033	T	0.016	T	0.304	0.259	5.398	1.75	0.158	-0.671	8.188	0.118	0.00462483315772	.	.	3.296e-05	0	8.642e-05	0.0001	0	0	0	0.0001	2.59e-05	4	154602	rs868978411	3.01e-05	3.01e-05	2.451e-05	3.576e-05	8.117e-05	2.282e-05	2.032e-05	3.766e-05	2.662e-05	0	4.472e-05	0	0	0	0	3.058e-05	1.656e-05	8.117e-05	1.972e-05	1.969e-05	0	4.035e-05	0.0004	5.24e-06	2.45e-06	7.301e-05	3.033e-05	2.41e-05	0	0	0	0	0	0	0	0	0.0004	0.004	0.65419	D	0.001	0.83351	D	0.995	0.67487	D	0.684	0.53582	P	.	.	.	.	0.996501	0.43243	D	3.02	0.86243	M	4.84	0.01481	T	-6.77	0.92782	D	0.144	0.14480	-1.0331	0.19459	T	0.016	0.06425	T	9	0.20504859	0.36718	T	0.004625	0.11440	T	0.118	0.32913	.	.	0.440498838766	0.43668	0.08217597657910593	0.08152	0.0830062080029	0.09363	0.203444182873	0.00563	T	0.151274	0.49114	T	-0.393122	0.02568	T	-0.565801	0.15836	T	0.28184910003139	0.24249	T	0.261074	0.04204	T	0.12934375	0.30213	0.13517018	0.32371	0.12934375	0.30213	0.13517018	0.32370	-8.661	0.65491	D	.	.	0.117	0.23814	B	.	.	1.316438	0.17203	13.02	0.92062190700576985	0.21407	0.13465	0.17871	N	AEFDBI	0.076500	0.15390	N	-0.307356531089214	0.28868	1.595926	-0.519670674703271	0.21620	1.170406	0.0951423773569989	0.16221	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.65	1.75	0.23707	-1.704000	0.01999	-6.868000	0.01286	-1.304000	0.01241	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1776:0.6506:0.1718:0.0	8.188	0.30513	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3089.98	36	chr21	44612740	.	C	T	3089.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.43;DP=1144;ExcessHet=0.0000;FS=3.958;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.37;ReadPosRankSum=-7.000e-01;SOR=0.960	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr21	44627577	44627577	T	C	exonic	KRTAP10-9	.	nonsynonymous SNV	KRTAP10-9:NM_198690:exon1:c.T406C:p.C136R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	D	0.943	D	.	.	1.000	D	3.555	H	4.15	T	-1.198	T	0.029	T	0.436	0.422	6.294	2.28	0.332	1.741	7.337	0.175	0.0271816327773	0.0035	0.00159744	0.0007	0.0082	0.0004	0	0	1.498e-05	0	6.057e-05	0.0006986	108	154602	rs201991753	0.0003	0.0003	0.0003	0.0003	0.0106	0.0003	0.0003	0.0097	0.0093	0.0106	0.0007	0	0	0	0.0012	3.598e-06	0.0010	0.0001	0.0029	0.0029	0.0031	0.0027	0.0099	0.0027	0.0026	0.0091	0.0088	0.0099	0	0.0012	0	0	0	0	7.357e-05	0.0014	0.0002	0.0	0.91255	D	0.02	0.58613	D	0.997	0.70673	D	0.943	0.67921	D	.	.	.	.	1	0.81001	D	4.775	0.99607	H	4.15	0.02815	T	-4.8	0.80682	D	0.226	0.25377	-1.1982	0.00163	T	0.029	0.12585	T	8	0.007601559	0.00173	T	0.027182	0.50018	D	0.175	0.44197	.	.	0.298056030225	0.29408	0.18217068023925134	0.18136	.	.	0.283589184284	0.07998	T	0.13294	0.46332	T	-0.449432	0.01138	T	-0.410963	0.32113	T	0.103582006594351	0.12746	T	0.735426	0.35200	T	0.49034446	0.66523	0.46941733	0.69228	0.49034446	0.66524	0.46941733	0.69229	-9.217	0.69082	D	.	.	0.137	0.29914	B	.	.	2.002599	0.25446	16.76	0.52548338381488846	0.04769	0.42595	0.26913	N	AEFBCI	0.100907	0.20280	N	-0.0580234335926824	0.39243	2.311188	-0.310634223626232	0.27754	1.542322	4.22469814707272E-4	0.06935	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.613276	0.41899	0	.	.	3.49	2.28	0.27583	0.450000	0.21475	-0.204000	0.10916	-0.212000	0.08331	0.021000	0.19753	0.000000	0.08366	0.003000	0.05239	0.1966:0.0:0.0:0.8034	7.337	0.25788	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	5317.98	367	chr21	44627577	.	T	C	5317.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.030e+00;DP=8382;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=0.798;SOR=0.685	GT:AD:DP:GQ:PL	0/0:473,0:473:99:0,120,1800	20	0	1	0
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	11119.76	311	chr21	44637708	.	TGTCTGCTGTGTGCCC	T,*	11119.76	.	AC=2,21;AF=0.050,0.525;AN=40;DP=7560;ExcessHet=2.9564;FS=0.000;InbreedingCoeff=-0.1019;MLEAC=2,22;MLEAF=0.050,0.550;MQ=59.91;QD=2.06;SOR=0.752	GT:AD:DP:GQ:PL	2/2:1,0,342:343:99:15038,15092,15417,1012,1063,0	3	1	0	1
chr21	44697568	44697568	G	A	exonic	KRTAP10-12	.	nonsynonymous SNV	KRTAP10-12:NM_198699:exon1:c.G367A:p.V123I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.002	B	0.006	B	.	.	1.000	N	0.345	N	4.87	T	-0.904	T	0.004	T	0.067	-0.837	0.581	-5.57	-1.279	-0.528	11.624	0.018	0.00115749357804	7.7e-05	.	4.123e-05	0	0	0	0	5.993e-05	0	6.056e-05	3.23e-05	5	154602	rs367590451	3.968e-05	3.967e-05	3.948e-05	3.988e-05	0.0002	3.113e-05	2.847e-05	3.373e-05	3.038e-05	0	2.238e-05	0	2.519e-05	0	0.0002	4.407e-05	3.312e-05	4.639e-05	4.63e-05	4.607e-05	6.462e-05	2.709e-05	8.84e-05	2.122e-05	1.535e-05	3.769e-05	2.58e-05	0	0	0	0	0	9.651e-05	0	8.84e-05	0	0	0.208	0.19782	T	0.313	0.19539	T	0.002	0.09854	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	1.525	0.38595	L	4.87	0.01449	T	-0.48	0.15379	N	0.097	0.07811	-0.9038	0.47583	T	0.004	0.01261	T	9	0.042086095	0.02924	T	0.001157	0.01459	T	0.018	0.03083	.	.	0.0138822411134	0.00435	0.02722406819878973	0.02672	0.218754404323	0.24414	0.209964349866	0.00810	T	7.34E-4	0.00340	T	-0.518125	0.00451	T	-0.800499	0.01890	T	0.0354380838637341	0.02884	T	0.049595	0.00352	T	0.026195759	0.01647	0.035103858	0.02698	0.026195759	0.01646	0.035103858	0.02698	-5.967	0.46003	T	.	.	0.077	0.06205	B	.	.	-0.287014	0.02674	0.344	0.67640761502794311	0.08415	0.01210	0.04304	N	AEFBI	0.030483	0.03078	N	-1.70806135961625	0.00814	0.03517337	-1.80224772458997	0.00752	0.03352193	0.999940128944892	0.47345	0.615755	0.39536	0	0.563428	0.19063	0	0.618376	0.41669	0	0.530356	0.10902	0	.	.	2.93	-5.57	0.02321	-2.146000	0.01380	-9.174000	0.00857	-2.217000	0.00350	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2542:0.0:0.7458:0.0	11.624	0.50394	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	4684.98	38	chr21	44697568	.	G	A	4684.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=1297;ExcessHet=0.0000;FS=6.987;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.97;MQRankSum=-1.047e+00;QD=11.29;ReadPosRankSum=0.218;SOR=0.787	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr21	44697881	44697881	G	A	exonic	KRTAP10-12	.	nonsynonymous SNV	KRTAP10-12:NM_198699:exon1:c.G680A:p.R227H,	.	.	394	1111	17	0	0	17	0.00759268	.	.	2821846	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.958	D	0.568	P	.	.	0.894	N	1.79	L	5.92	T	-0.867	T	0.004	T	0.246	0.841	8.396	2.15	1.473	-0.651	4.143	0.045	0.00261689387951	0.0002	0.000399361	0.0006	0	8.705e-05	0	0	0.0005	0.0034	0.0026	0.0005369	83	154602	rs201774066	0.0005	0.0005	0.0004	0.0006	0.0047	0.0005	0.0005	0.0033	0.0030	3.047e-05	0.0001	3.867e-05	2.543e-05	3.801e-05	0.0047	0.0003	0.0006	0.0035	0.0004	0.0004	0.0004	0.0003	0.0027	0.0003	0.0003	0.0016	0.0013	2.41e-05	0	0.0005	0	0	0	0	0.0005	0.0009	0.0027	0.073	0.34800	T	0.09	0.40267	T	0.958	0.54977	D	0.568	0.49807	P	.	.	.	.	0.894092	0.27827	N	2.2	0.62015	M	5.92	0.00621	T	-3.15	0.64132	D	0.196	0.21580	-0.8669	0.50761	T	0.004	0.01400	T	9	0.008251309	0.00187	T	0.002617	0.05320	T	0.045	0.12272	.	.	0.0920862733494	0.08535	0.06881372150280655	0.06819	0.333317815052	0.35368	0.218016147614	0.01198	T	0.067438	0.33201	T	-0.57164	0.00216	T	-0.598201	0.12962	T	0.0877758966008192	0.10951	T	0.110989	0.00833	T	0.040762078	0.05879	0.051724836	0.08382	0.040762078	0.05879	0.051724836	0.08382	-5.968	0.46011	T	.	.	0.084	0.09772	B	.	.	0.802207	0.11727	8.306	0.98893101535280958	0.48037	0.10071	0.15677	N	AEFDBCIJ	0.036916	0.04994	N	-0.210543744228717	0.32702	1.847058	-0.370258748121231	0.25888	1.426498	0.999742172848609	0.42466	0.608966	0.35542	0	0.563428	0.19063	0	0.769059	0.98459	0	0.530356	0.10902	0	.	.	3.17	2.15	0.26590	-0.151000	0.10160	-2.417000	0.03780	-0.170000	0.11276	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.143:0.246:0.611:0.0	4.143	0.09670	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2233.98	38	chr21	44697881	.	G	A	2233.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=1211;ExcessHet=0.0000;FS=2.161;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.41;ReadPosRankSum=-8.180e-01;SOR=0.906	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr21	44711471	44711471	G	A	exonic	TSPEAR	.	nonsynonymous SNV	TSPEAR:NM_144991:exon1:c.C44T:p.A15V,	Deafness, autosomal recessive 98, Autosomal recessive	.	7	1504	11	0	0	11	0.00364359	.	.	231380	not_specified|TSPEAR-related_disorder|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_98	MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0013929,MedGen:C3553932,OMIM:614861,Orphanet:90636	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.55	T	0.0	B	0.0	B	0.917	N	1.000	N	-0.69	N	0.99	T	-1.013	T	0.019	T	0.073	-2.402	0.003	1.91	0.891	1.217	5.400	0.053	0.00746741776926	0.0014	0.00279553	0.0031	0.0007	0.0023	0.0002	0.0036	0.0035	0.0066	0.0048	0.0022315	345	154602	rs150107590	0.0025	0.0025	0.0025	0.0025	0.0068	0.0025	0.0024	0.0051	0.0045	0.0005	0.0029	0.0037	7.573e-05	0.0010	0.0068	0.0026	0.0030	0.0037	0.0019	0.0019	0.0019	0.0019	0.0059	0.0017	0.0017	0.0049	0.0045	0.0004	0	0.0059	0.0046	0	0.0010	0.0068	0.0019	0.0038	0.0037	0.305	0.14256	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.917241	0.08512	N	0.953699	1	0.08975	N	-0.55	0.02420	N	0.99	0.41750	T	-0.09	0.08340	N	0.259	0.29313	-1.0129	0.26007	T	0.019	0.08033	T	10	0.006333798	0.00143	T	0.007467	0.19819	T	0.053	0.14996	.	.	0.0138822411134	0.00435	0.31947340225221965	0.31860	0.0500189367381	0.05491	0.467254459858	0.34304	T	0.017467	0.14244	T	-0.642931	0.00080	T	-0.697141	0.05984	T	0.00545191142573517	0.00059	T	0.484552	0.14745	T	0.025118157	0.01415	0.048301548	0.07144	0.026282787	0.01666	0.049731247	0.07660	-3.757	0.20164	T	.	.	0.083	0.09288	B	.;.	.;.	0.930172	0.13055	9.558	0.6341115104992594	0.07217	0.18973	0.20477	N	AEFDBHCI	0.054761	0.09986	N	-1.10595325282605	0.06536	0.3011594	-1.01198297237871	0.09521	0.4741617	0.999971559507677	0.50053	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	3.76	1.91	0.24841	1.342000	0.33524	2.079000	0.30484	-0.119000	0.14319	0.937000	0.32526	0.989000	0.31174	0.001000	0.02609	0.2563:0.0:0.7437:0.0	5.400	0.15588	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1063.98	34	chr21	44711471	.	G	A	1063.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.710e-01;DP=810;ExcessHet=0.0000;FS=0.717;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.59;ReadPosRankSum=-4.600e-01;SOR=0.569	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1118	20	0	1	0
chr21	44787945	44787945	A	G	exonic	UBE2G2	.	nonsynonymous SNV	UBE2G2:NM_003343:exon3:c.T100C:p.F34L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.092	B	0.095	B	0.000	D	1.000	D	-0.575	N	1.57	T	-1.049	T	0.031	T	0.871	3.065	16.23	5.52	2.099	5.889	13.200	0.274	0.00886243088208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.092	0.25296	B	0.095	0.30245	B	0.000003	0.62929	D	0.137180	1	0.81001	D	-1.005	0.01165	N	1.57	0.29342	T	-2.35	0.60665	N	0.872	0.90363	-1.0486	0.14790	T	0.031	0.13155	T	10	0.5078333	0.61922	D	0.008862	0.23366	T	0.274	0.59007	0.51	0.60693	0.288727942641	0.28479	0.8250472284512437	0.82462	1.94467123622	0.93298	0.808675408363	0.83290	D	0.111177	0.42646	T	0.143258	0.68634	D	-0.0319962	0.68236	D	0.919920444488525	0.57885	D	0.980902	0.93438	D	0.6310103	0.74352	0.39437196	0.64133	0.6310103	0.74353	0.39437196	0.64133	-2.196	0.04644	T	.	.	0.867	0.80711	P	.;.	.;.	3.857211	0.55911	23.7	0.99019966515632019	0.50548	0.96590	0.69904	D	AEDBI	0.584769	0.58346	D	-0.306715822902196	0.28893	1.597481	-0.0350811180024322	0.38142	2.242996	0.999999992463418	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.52	5.52	0.82153	6.147000	0.71549	11.101000	0.86122	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	13.200	0.59185	976	0.04745	Ubiquitin-conjugating enzyme E2|Ubiquitin-conjugating enzyme E2|Ubiquitin-conjugating enzyme E2;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	36.98	33	chr21	44787945	.	A	G	36.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.819e+00;DP=865;ExcessHet=0.0000;FS=98.384;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.21;ReadPosRankSum=0.068;SOR=6.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,25:177:51:0|1:44787945_A_G:51,0,4958:44787945	20	0	1	0
chr21	44787954	44787954	C	G	exonic	UBE2G2	.	nonsynonymous SNV	UBE2G2:NM_003343:exon3:c.G91C:p.E31Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.981	D	0.882	P	0.000	D	1.000	D	2.86	M	1.12	T	-0.403	T	0.285	T	0.631	4.396	23.3	5.52	2.595	4.947	16.391	0.298	0.0314211249263	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.006	0.70582	D	0.981	0.59675	D	0.882	0.62632	P	0.000001	0.84330	D	0.092911	1	0.81001	D	3.11	0.87757	M	1.12	0.38718	T	-2.62	0.56301	D	0.769	0.76666	-0.4026	0.71945	T	0.285	0.65675	T	10	0.79398346	0.78905	D	0.031421	0.53505	D	0.298	0.61843	0.511	0.60846	0.769516625955	0.76740	0.8037512325420121	0.80329	1.76735228877	0.91241	0.784447729588	0.79600	T	0.212853	0.57400	T	0.0571406	0.59253	T	-0.155698	0.58736	T	0.984980940818787	0.76116	D	0.992401	0.97558	D	0.8669726	0.88624	0.73420763	0.84292	0.8669726	0.88625	0.73420763	0.84293	-9.478	0.70722	D	.	.	0.525	0.65696	A	.;.	.;.	4.516880	0.70779	25.6	0.99818088135550154	0.90150	0.96027	0.67203	D	AEFDBI	0.558437	0.56766	D	0.812082726397847	0.86858	9.021618	0.775752041384853	0.88062	9.443339	0.999999999792068	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.52	5.52	0.82153	5.215000	0.65074	7.596000	0.61403	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	16.391	0.83373	976	0.04745	Ubiquitin-conjugating enzyme E2|Ubiquitin-conjugating enzyme E2|Ubiquitin-conjugating enzyme E2;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	105.98	35	chr21	44787954	.	C	G	105.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.187e+00;DP=1218;ExcessHet=0.0000;FS=118.139;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.61;ReadPosRankSum=2.11;SOR=6.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,102,1530	20	0	1	0
chr21	44967094	44967094	C	T	exonic	FAM207A	.	nonsynonymous SNV	FAM207A:NM_001316983:exon4:c.C413T:p.T138M	.	.	366	1152	4	0	0	4	0.0017331	.	.	3333288	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.18	T	0.934	P	0.255	B	0.000	N	0.988	D	1.735	L	0.85	T	-1.038	T	0.094	T	0.174	0.291	5.576	2.68	1.051	0.814	7.445	0.078	0.0211680988518	0.0014	0.000199681	0.0009	0.0005	0.0002	0	0	0.0013	0.0013	0.0006	0.0002911	45	154602	rs138283625	0.0019	0.0019	0.0019	0.0018	0.0043	0.0018	0.0018	0.0028	0.0024	0.0004	0.0007	0.0009	2.52e-05	1.884e-05	0.0043	0.0022	0.0026	0.0006	0.0010	0.0010	0.0012	0.0009	0.0018	0.0009	0.0008	0.0016	0.0015	0.0003	0	0.0006	0.0003	0	9.407e-05	0	0.0018	0.0019	0.0004	0.129	0.32610	T	0.197	0.32891	T	0.934	0.52202	P	0.255	0.39216	B	0.000003	0.62929	N	0.059474	0.988275	0.40734	D	2.035	0.55589	M	0.85	0.47130	T	-3.65	0.74269	D	0.28	0.31702	-1.0377	0.18016	T	0.094	0.35524	T	10	0.024898946	0.00702	T	0.021168	0.43897	T	0.078	0.22779	.	.	0.685393914239	0.68270	0.3267124357095813	0.32584	0.454083579922	0.45095	0.680935502052	0.64402	T	0.158316	0.52562	T	-0.520703	0.00436	T	-0.525346	0.19754	T	0.0334517492139783	0.02546	T	0.762924	0.49049	T	0.05781052	0.11553	0.083620146	0.19176	0.05781052	0.11553	0.083620146	0.19175	-6.272	0.48500	T	.	.	0.099	0.27192	B	.;.;.	.;.;.	1.661868	0.21196	15.09	0.96322507665583268	0.29420	0.43610	0.27136	N	AEFBI	0.049230	0.08484	N	-0.194595407981703	0.33359	1.891668	-0.280327452708255	0.28746	1.605198	0.999861973287317	0.44398	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	3.58	2.68	0.30839	0.739000	0.25841	-0.069000	0.12322	0.599000	0.40250	0.013000	0.18845	0.001000	0.17328	0.077000	0.17074	0.0:0.8792:0.0:0.1208	7.445	0.26376	862	0.33134	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1093.15	34	chr21	44967094	.	C	T	1093.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.048;DP=766;ExcessHet=0.0000;FS=0.716;InbreedingCoeff=-0.0303;MLEAC=1;MLEAF=0.024;MQ=59.45;MQRankSum=1.55;QD=9.94;ReadPosRankSum=-5.090e-01;SOR=0.591	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1169	20	0	1	0
chr21	45269880	45269880	C	T	exonic	POFUT2	.	nonsynonymous SNV	POFUT2:NM_015227:exon7:c.G971A:p.R324Q	.	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.003	B	0.0	B	0.028	N	1.000	N	-0.09	N	1.55	T	-1.025	T	0.021	T	0.106	0.373	6.027	-1.69	-0.432	0.536	8.400	0.014	.	0.0025	0.00139776	0.0010	0.0078	0.0004	0.0007	0.0006	0.0003	0.0011	6.057e-05	0.0008926	138	154602	rs143763248	0.0005	0.0005	0.0005	0.0004	0.0079	0.0004	0.0004	0.0071	0.0068	0.0079	0.0007	0	0.0002	0.0012	0.0040	0.0002	0.0010	9.361e-05	0.0024	0.0024	0.0026	0.0022	0.0077	0.0022	0.0021	0.0070	0.0067	0.0077	0	0.0009	0	0.0002	0.0009	0.0034	0.0002	0.0019	0	0.459	0.12187	T	0.39	0.17320	T	0.003	0.11197	B	0.0	0.01387	B	0.028157	0.25646	N	0.451234	0.999741	0.20516	N	-0.55	0.02420	N	1.55	0.29866	T	0.05	0.06369	N	0.181	0.22998	-1.0254	0.21952	T	0.021	0.08639	T	10	0.010989875	0.00242	T	.	.	.	0.014	0.01968	.	.	0.158396225186	0.15383	0.20016223380280534	0.19933	0.419145018288	0.42472	0.195951104164	0.00348	T	0.057061	0.30462	T	-0.638427	0.00085	T	-0.685547	0.06650	T	0.00711488282104711	0.00081	T	0.819018	0.48242	T	0.041043945	0.05971	0.058644745	0.10871	0.041043945	0.05971	0.058644745	0.10870	-6.223	0.48109	T	.	.	0.065	0.02518	B	.;.;.	.;.;.	-0.329586	0.02490	0.291	0.83237782052323228	0.14616	0.22556	0.21786	N	AEFDBI	0.062827	0.12101	N	-1.13384091523569	0.06050	0.2774718	-1.08575883998148	0.07979	0.3904059	0.0504885299633491	0.14841	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.35	-1.69	0.07747	0.394000	0.20559	-3.031000	0.03123	-1.636000	0.00846	0.986000	0.36153	0.000000	0.08366	0.028000	0.12845	0.0:0.4215:0.0:0.5785	8.400	0.31742	929	0.16858	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	966.98	94	chr21	45269880	.	C	T	966.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.99;DP=792;ExcessHet=0.0000;FS=0.783;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.29;ReadPosRankSum=-5.000e-02;SOR=0.560	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1133	20	0	1	0
chr21	46112374	46112374	G	A	exonic	COL6A2	.	nonsynonymous SNV	COL6A2:NM_001849:exon3:c.G511A:p.G171R	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	.	1	1516	4	1	0	6	0.00197498	.	.	266421	COL6A2-related_disorder|Tip-toe_gait|not_provided|Bethlem_myopathy_1A|Myosclerosis|Collagen_6-related_myopathy	.|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144|MedGen:C3661900|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MONDO:MONDO:0009714,MedGen:C1850671,OMIM:255600,Orphanet:289380|MONDO:MONDO:0100225,MedGen:CN117976	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	1.0	D	1.0	D	0.000	D	1.000	D	2.08	M	-1.17	T	0.292	D	0.602	D	0.452	3.166	16.59	4.34	2.142	3.490	17.236	0.589	0.351088878635	0.0006	0.000599042	0.0011	0.0001	0.0005	0	0	0.0013	0	0.0021	0.000925	143	154602	rs200710788	0.0013	0.0013	0.0013	0.0013	0.0019	0.0012	0.0012	0.0016	0.0015	0.0004	0.0004	0.0020	2.525e-05	0.0001	0.0007	0.0014	0.0013	0.0019	0.0012	0.0012	0.0013	0.0010	0.0021	0.0010	0.0010	0.0018	0.0017	0.0004	0	0.0003	0.0035	0	0	0	0.0021	0	0.0010	0.001	0.78490	D	0.003	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.056517	1	0.81001	D	1.995	0.54099	M	-1.17	0.78199	T	-6.28	0.94988	D	0.482	0.54322	0.292	0.87433	D	0.602	0.85859	D	10	0.044142783	0.03338	T	0.351089	0.92270	D	0.589	0.83582	0.6	0.73105	0.934347342465	0.93367	0.8987093180575472	0.89842	0.507590868077	0.48939	0.575448870659	0.49445	T	0.574699	0.85976	D	-0.249479	0.14161	T	-0.137612	0.60324	T	0.0637714937539241	0.07748	T	0.924508	0.72366	D	0.7780999	0.82538	0.63723415	0.78817	0.77080023	0.82098	0.66911036	0.80590	-15.613	0.97122	D	0.3502189139601803	0.44748	0.224	0.61373	B	.;.;.;.;.	.;.;.;.;.	5.183434	0.86912	29.1	0.99769818939416133	0.85834	0.94191	0.60389	D	AEFDBI	0.670721	0.63771	D	0.557634977708968	0.70549	5.517729	0.493640458030972	0.67565	5.101422	0.999999974029864	0.74766	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.34	4.34	0.51267	2.403000	0.44184	9.599000	0.81062	0.618000	0.50648	0.999000	0.42656	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	17.236	0.86883	976	0.04745	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;von Willebrand factor, type A|von Willebrand factor, type A;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	1215.98	36	chr21	46112374	.	G	A	1215.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.99;DP=779;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.48;ReadPosRankSum=0.434;SOR=0.664	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1351	20	0	1	0
chr21	46125997	46125997	G	A	exonic	COL6A2	.	nonsynonymous SNV	COL6A2:NM_001849:exon26:c.G2182A:p.V728M	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	.	0	1515	5	2	0	9	0.0029615	.	.	266447	Collagen_6-related_myopathy|not_provided|Myosclerosis|Bethlem_myopathy_1A|not_specified	MONDO:MONDO:0100225,MedGen:CN117976|MedGen:C3661900|MONDO:MONDO:0009714,MedGen:C1850671,OMIM:255600,Orphanet:289380|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.375	M	-1.68	D	0.598	D	0.710	D	0.924	2.559	14.52	4.05	1.808	6.521	16.211	0.754	0.641524751336	7.7e-05	0.000199681	0.0003	0	0.0003	0	0	0.0004	0.0011	0.0002	0.0002458	38	154602	rs200585528	0.0002	0.0002	0.0002	0.0002	0.0061	0.0002	0.0002	0.0045	0.0039	8.962e-05	0.0007	0.0038	0	0	0.0061	0.0001	0.0004	0.0002	0.0005	0.0005	0.0004	0.0006	0.0029	0.0004	0.0004	0.0022	0.0020	0	0	0.0029	0.0037	0	0	0.0034	0.0002	0.0014	0.0002	0.006	0.63226	D	0.01	0.65728	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.51	0.73131	M	-1.68	0.82897	D	-1.21	0.30762	N	0.578	0.61341	0.598	0.91872	D	0.710	0.90046	D	10	0.104599	0.19293	T	0.641525	0.96946	D	0.754	0.91583	.	.	0.95936864261	0.95893	0.9357092783694257	0.93550	0.612704788932	0.55857	0.732289552689	0.71840	T	0.392785	0.75236	T	0.131708	0.67528	D	0.333381	0.89648	D	0.0734661221504211	0.09129	T	0.918008	0.70480	D	0.40928945	0.61370	0.3452451	0.60210	0.3787662	0.59227	0.30654034	0.56677	-10.307	0.75729	D	0.7183434190759482	0.79923	0.406	0.68185	A	.;.;.;.	.;.;.;.	4.280629	0.65203	24.8	0.99565320671440971	0.72014	0.95525	0.65068	D	AEFBCI	0.895624	0.83584	D	0.603122607862829	0.73371	5.955353	0.504238713169786	0.68274	5.197656	0.999999996059892	0.74766	0.695654	0.57023	0	0.626922	0.53725	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.05	4.05	0.46415	6.726000	0.74566	7.369000	0.58386	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.712000	0.34516	0.0:0.0:1.0:0.0	16.211	0.81984	976	0.04745	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	4676.98	170	chr21	46125997	.	G	A	4676.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.06;DP=1822;ExcessHet=0.0000;FS=2.774;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.86;ReadPosRankSum=-3.820e-01;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1485	20	0	1	0
chr21	46132277	46132277	G	A	exonic	COL6A2	.	nonsynonymous SNV	COL6A2:NM_001849:exon28:c.G2785A:p.V929M,	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	YES	0	1514	8	0	0	8	0.00263505	.	.	269955	Ullrich_congenital_muscular_dystrophy_1A|Collagen_6-related_myopathy|not_provided|Bethlem_myopathy_1A	MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090,Orphanet:75840|MONDO:MONDO:0100225,MedGen:CN117976|MedGen:C3661900|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.21	T	1.0	D	0.988	D	0.016	U	1.000	D	2.14	M	-1.16	T	0.061	D	0.569	D	0.664	1.506	10.98	4.18	1.891	4.938	12.418	0.473	0.251040784075	0.0002	0.000199681	0.0002	0	0.0001	0	0	0.0002	0	0.0004	0.0001552	24	154602	rs145527336	0.0002	0.0002	0.0002	0.0002	0.0036	0.0001	0.0001	0.0024	0.0021	0.0001	0.0003	0	0	0	0.0036	0.0001	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	9.696e-05	0.0002	0.0002	4.813e-05	0	0.0001	0	0	0	0	0.0003	0	0.0002	0.081	0.33418	T	0.123	0.35582	T	1.0	0.90584	D	0.988	0.77976	D	0.015856	0.28136	U	0.313934	0.999999	0.58761	D	2.32	0.66415	M	-1.16	0.78082	T	-0.41	0.14000	N	0.634	0.64733	0.061	0.83442	D	0.569	0.84381	D	10	0.5866204	0.66147	D	0.251041	0.89116	D	0.473	0.76619	.	.	0.846654732685	0.84518	0.778402159540574	0.77790	0.604138712811	0.55366	0.716341853142	0.69514	T	0.170631	0.51844	T	-0.0836815	0.39113	T	-0.0340358	0.68101	D	0.196997237944013	0.20249	T	0.784022	0.42156	T	0.06302385	0.13228	0.06363048	0.12633	0.06302385	0.13227	0.06363048	0.12633	-2.237	0.04224	T	0.4558369978791214	0.53885	0.484	0.63867	A	.	.	4.136798	0.61946	24.4	0.98036681249520852	0.37758	0.94361	0.60920	D	AEFDBCI	0.821846	0.74231	D	0.284783801192554	0.55377	3.701778	0.144463669919768	0.46849	2.924302	0.99999999989157	0.74766	0.718356	0.82227	0	0.547309	0.14657	0	0.570548	0.19454	0	0.567892	0.33627	0	.	.	4.18	4.18	0.48473	5.423000	0.66197	6.509000	0.55803	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.008000	0.08271	0.0:0.1695:0.8305:0.0	12.418	0.54839	982	0.03397	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1944.98	36	chr21	46132277	.	G	A	1944.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.79;DP=1242;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=0.499;SOR=0.662	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1213	20	0	1	0
chr21	46137321	46137321	G	A	exonic	FTCD	.	nonsynonymous SNV	FTCD:NM_001320412:exon13:c.C1457T:p.A486V	Glutamate formiminotransferase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.995	D	0.82	P	0.001	U	1.000	D	2.34	M	0.96	T	-0.440	T	0.331	T	0.674	3.771	19.15	4.12	1.842	5.784	10.616	0.232	0.0113151674455	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1010026593	6.844e-07	6.84e-07	0	1.376e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	6.567e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.106	0.29688	T	0.261	0.25438	T	0.995	0.67487	D	0.82	0.59072	P	0.000603	0.42945	U	0.192246	0.999738	0.81001	D	2.565	0.75005	M	0.96	0.42888	T	-2.26	0.50502	N	0.562	0.58629	-0.4399	0.70734	T	0.331	0.69902	T	10	0.5244248	0.62827	D	0.011315	0.28804	T	0.232	0.53354	0.668	0.80602	0.665704048042	0.66288	0.4364620719683625	0.43563	0.0842887182597	0.09520	0.639765501022	0.58531	T	0.149324	0.48828	T	0.0446729	0.57653	T	-0.173607	0.57112	T	0.961470603942871	0.66092	D	0.962704	0.89229	D	0.111969545	0.26455	0.14893028	0.35185	0.111969545	0.26455	0.14893028	0.35184	-6.356	0.49165	T	0.24608603980500435	0.33329	0.155	0.41693	B	.;.;.	.;.;.	4.677140	0.74812	26.2	0.99873127811283724	0.95076	0.88932	0.49105	D	AEFDBCI	0.875359	0.79873	D	0.308185896156299	0.56568	3.821675	0.310824156938512	0.56174	3.780489	0.999999992069683	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.586402	0.36253	0	.	.	4.12	4.12	0.47504	7.538000	0.80960	11.026000	0.85008	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.596000	0.31288	0.1054:0.0:0.8946:0.0	10.616	0.44640	982	0.03397	Cyclodeaminase/cyclohydrolase;.;Cyclodeaminase/cyclohydrolase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2102.98	40	chr21	46137321	.	G	A	2102.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.117e+00;DP=949;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.21;ReadPosRankSum=-1.568e+00;SOR=0.672	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1414	20	0	1	0
chr21	46151969	46151969	C	T	exonic	FTCD	.	nonsynonymous SNV	FTCD:NM_001320412:exon4:c.G379A:p.G127S	Glutamate formiminotransferase deficiency, Autosomal recessive	YES	2	1518	2	0	0	2	0.000658328	.	.	963932	Inborn_genetic_diseases|Glutamate_formiminotransferase_deficiency|Intellectual_disability	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009240,MedGen:C0268609,OMIM:229100,Orphanet:51208|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.41	T	1.0	D	0.98	D	0.000	D	1.000	D	2.845	M	-1.23	T	0.229	D	0.633	D	0.713	2.627	14.74	3.65	1.963	7.042	16.238	0.479	0.262951970722	.	.	0	0	0	0	0	0	0	0	2.59e-05	4	154602	rs766010122	5.233e-05	5.404e-05	5.736e-05	4.719e-05	0.0002	4.264e-05	3.905e-05	8.658e-05	6.115e-05	9.276e-05	0.0002	0	0	0	0	5.146e-05	0.0001	2.479e-05	6.569e-05	6.566e-05	3.854e-05	9.412e-05	0.0001	3.516e-05	2.616e-05	3.248e-05	1.914e-05	9.647e-05	0	0.0001	0	0	0	0	5.88e-05	0	0	0.454	0.37326	T	0.494	0.11656	T	1.0	0.90584	D	0.98	0.74843	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.08	0.87267	M	-1.23	0.78860	T	-2.39	0.52612	N	0.774	0.77132	0.229	0.86393	D	0.633	0.87139	D	10	0.84070504	0.83227	D	0.262952	0.89581	D	0.479	0.77012	.	.	0.905458025523	0.90451	0.8681134533835198	0.86776	0.335013396911	0.35513	0.691559791565	0.65930	T	0.583154	0.86381	D	-0.0137613	0.49737	T	0.0346051	0.72576	D	0.690987765789032	0.40293	D	0.935706	0.86259	D	0.45323342	0.64246	0.34753028	0.60406	0.45323342	0.64247	0.34753028	0.60405	-11.669	0.83883	D	0.4954739160070249	0.57159	0.215	0.48029	B	.;.;.;.	.;.;.;.	4.173216	0.62768	24.5	0.98980820189958696	0.49740	0.97601	0.75824	D	AEFDBCI	0.965860	0.98822	D	0.346859366830971	0.58573	4.03044	0.154544402615177	0.47382	2.969377	0.999999999999976	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	3.65	3.65	0.40985	5.532000	0.66867	5.683000	0.49304	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.010000	0.09038	0.0:1.0:0.0:0.0	16.238	0.82216	982	0.03397	Formiminotransferase, N-terminal subdomain|Formiminotransferase, N-terminal subdomain|Formiminotransferase catalytic domain;.;Formiminotransferase, N-terminal subdomain|Formiminotransferase, N-terminal subdomain|Formiminotransferase catalytic domain;Formiminotransferase, N-terminal subdomain|Formiminotransferase, N-terminal subdomain|Formiminotransferase catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1170.98	33	chr21	46151969	.	C	T	1170.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=828;ExcessHet=0.0000;FS=1.764;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=-1.127e+00;SOR=0.750	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1620	20	0	1	0
chr21	46168541	46168541	G	A	exonic	SPATC1L	.	nonsynonymous SNV	SPATC1L:NM_001142854:exon3:c.C311T:p.P104L,	.	.	.	.	.	.	.	.	.	.	.	3326602	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.46	T	0.14	B	0.031	B	0.004	N	1.000	D	0.895	L	0.31	T	-1.026	T	0.115	T	0.221	1.052	9.297	4.58	1.311	1.640	10.006	0.086	0.0389735723131	.	.	0.0001	0.0005	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs750914245	0.0001	0.0001	0.0001	0.0001	0.0002	9.628e-05	9.074e-05	0.0001	9.438e-05	0.0002	0	0	0	0	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0002	9.417e-05	0.0002	8.667e-05	7.259e-05	9.569e-05	7.013e-05	0.0002	0	0	0	0.0002	0	0	0.0002	0	0	0.105	0.29823	T	0.087	0.40747	T	0.14	0.27540	B	0.031	0.21939	B	0.004111	0.34102	N	0.133947	0.999682	0.81001	D	0.955	0.23872	L	0.31	0.58613	T	-2.32	0.51478	N	0.131	0.12627	-1.0259	0.21788	T	0.115	0.40717	T	10	0.062360525	0.07962	T	0.038974	0.58541	D	0.086	0.25016	.	.	0.298403945805	0.29456	0.23638678847715852	0.23553	0.207412736444	0.23197	0.485770583153	0.36854	T	0.048842	0.28133	T	-0.319918	0.06905	T	-0.449008	0.27806	T	0.04359021037817	0.04346	T	.	.	.	0.03796731	0.04967	0.057323493	0.10398	0.03796731	0.04967	0.057323493	0.10398	-3.378	0.14762	T	.	.	0.085	0.09965	B	.	.	1.439297	0.18583	13.82	0.89948372931226583	0.19244	0.71170	0.34899	D	AEFBCI	0.083024	0.16816	N	-0.510520828550741	0.21738	1.155892	-0.419527100916349	0.24424	1.337385	0.192589145455179	0.18018	0.706298	0.61202	0	0.659464	0.62310	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.46	4.58	0.56077	1.177000	0.31578	4.071000	0.41665	-0.161000	0.11593	0.727000	0.28892	1.000000	0.68203	0.033000	0.13494	0.0934:0.0:0.9066:0.0	10.006	0.41127	982	0.03397	Speriolin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	766.98	79	chr21	46168541	.	G	A	766.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=787;ExcessHet=0.0000;FS=4.409;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.96;ReadPosRankSum=0.487;SOR=1.214	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1095	20	0	1	0
chr21	46215298	46215298	G	A	exonic	LSS	.	nonsynonymous SNV	LSS:NM_001145437:exon8:c.C653T:p.A218V	Cataract 44, Autosomal recessive	.	433	1079	10	0	0	10	0.00461255	0.0006	0.15	1533022	LSS-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.53	T	0.009	B	0.001	B	0.586	N	0.984	N	0.665	N	1.46	T	-1.010	T	0.016	T	0.112	1.355	10.45	-8.66	-1.342	0.012	8.250	0.038	.	0.0004	0.00519169	0.0040	0.0001	0.0008	0.0194	0.0003	0.0006	0.0074	0.0145	0.0028266	437	154602	rs201713860	0.0015	0.0015	0.0011	0.0019	0.0130	0.0014	0.0014	0.0121	0.0117	3.006e-05	0.0002	0.0002	0.0130	0.0002	0.0029	0.0004	0.0010	0.0126	0.0012	0.0012	0.0008	0.0016	0.0135	0.0010	0.0010	0.0110	0.0100	7.222e-05	0	0.0006	0	0.0135	0.0005	0	0.0004	0.0009	0.0124	0.513	0.07425	T	0.614	0.09298	T	0.002	0.09854	B	0.0	0.01387	B	0.586277	0.11094	N	0.837062	0.984187	0.24822	N	1.495	0.37439	L	1.46	0.32238	T	-1.22	0.31576	N	0.237	0.27197	-1.0098	0.26981	T	0.016	0.06711	T	10	0.0070340037	0.00160	T	0.007566	0.20086	T	0.038	0.09825	.	.	0.184867976434	0.18130	0.5960744481953376	0.59537	0.28602195282	0.31010	0.254594683647	0.04267	T	0.056938	0.30426	T	-0.645131	0.00078	T	-0.685183	0.06672	T	0.0118133632872924	0.00183	T	0.729627	0.34527	T	0.08526793	0.19773	0.049082696	0.07425	0.048312847	0.08399	0.037260924	0.03342	-4.742	0.38758	T	.	.	0.084	0.19720	B	.;.;.;.	.;.;.;.	-0.074480	0.03794	0.802	0.68026145806300997	0.08532	0.14540	0.18457	N	AEFBCI	0.071907	0.14332	N	-1.52998585759555	0.01655	0.07240483	-1.620730661718	0.01534	0.06949419	0.999907498865793	0.45458	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.28	-8.66	0.00751	-0.058000	0.11707	-0.610000	0.08226	-0.128000	0.13240	0.001000	0.13787	0.000000	0.08366	0.030000	0.13115	0.4401:0.205:0.3549:0.0	8.250	0.30872	934	0.15400	Squalene cyclase, N-terminal;Squalene cyclase, N-terminal;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	509.98	39	chr21	46215298	.	G	A	509.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.370e-01;DP=767;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=-1.385e+00;SOR=0.542	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,963	20	0	1	0
chr21	46266123	46266123	A	C	exonic	MCM3AP	.	nonsynonymous SNV	MCM3AP:NM_003906:exon11:c.T2833G:p.L945V,	.	.	419	1074	29	0	0	29	0.0133211	.	.	717271	MCM3AP-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.19	T	0.146	B	0.09	B	0.001	N	1.000	N	1.905	M	3.8	T	-1.016	T	0.010	T	0.06	0.339	5.837	-3.91	-0.998	0.750	8.573	0.034	.	0.0047	0.00279553	0.0064	0.0008	0.0122	0	0.0089	0.0079	0.0188	0.0015	0.0059443	919	154602	rs144904756	0.0062	0.0062	0.0061	0.0063	0.0259	0.0061	0.0060	0.0225	0.0212	0.0014	0.0082	0.0256	0	0.0092	0.0259	0.0060	0.0079	0.0013	0.0049	0.0049	0.0048	0.0050	0.0057	0.0046	0.0045	0.0052	0.0050	0.0014	0	0.0053	0.0265	0	0.0094	0.0136	0.0057	0.0090	0.0006	0.357	0.12032	T	0.095	0.39492	T	0.146	0.27821	B	0.09	0.29851	B	0.001426	0.39044	N	0.219769	1	0.08975	N	1.905	0.50856	L	3.8	0.03781	T	-0.6	0.17834	N	0.442	0.48780	-1.0162	0.24948	T	0.010	0.03673	T	10	0.003976971	0.00077	T	.	.	.	0.034	0.08419	.	.	0.240615537116	0.23683	0.23897188706661074	0.23811	0.241407247156	0.26664	0.35556179285	0.18738	T	0.089058	0.38292	T	-0.672393	0.00053	T	-0.733917	0.04152	T	0.00493454904149325	0.00053	T	0.715328	0.32778	T	0.02376417	0.01144	0.034527432	0.02536	0.031549335	0.03014	0.034527432	0.02535	-5.563	0.42453	T	.	.	0.081	0.08081	B	.;.	.;.	0.158927	0.05500	1.963	0.68637270778372683	0.08720	0.29821	0.23922	N	AEFDBCI	0.106285	0.21211	N	-1.07576092996927	0.07092	0.3284427	-1.17687587523784	0.06297	0.3027039	0.742497390098923	0.23234	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.67	-3.91	0.03892	0.808000	0.26813	0.308000	0.17052	-0.208000	0.08445	0.158000	0.23769	0.000000	0.08366	0.438000	0.27627	0.412:0.1217:0.4664:0.0	8.573	0.32744	952	0.10565	Proteasome component (PCI) domain;Proteasome component (PCI) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1534.98	36	chr21	46266123	.	A	C	1534.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.604;DP=887;ExcessHet=0.0000;FS=0.737;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.35;ReadPosRankSum=-1.910e-01;SOR=0.809	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	20	0	1	0
chr21	46287083	46287083	G	A	exonic	YBEY	.	nonsynonymous SNV	YBEY:NM_001006114:exon2:c.G170A:p.R57K	.	.	441	1077	4	0	0	4	0.00185357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.185	N	1.000	N	-0.915	N	.	.	-0.967	T	0.019	T	0.038	-0.209	2.987	1.57	0.360	0.714	5.513	0.059	0.00158803480406	7.7e-05	.	0.0001	9.643e-05	0	0	0	0.0002	0	0.0001	9.06e-05	14	154602	rs370957005	9.787e-05	9.85e-05	8.988e-05	0.0001	0.0005	8.448e-05	7.925e-05	0.0003	0.0003	5.976e-05	8.962e-05	0	0	1.874e-05	0.0005	8.186e-05	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0004	7.626e-05	6.322e-05	0.0001	8.894e-05	2.426e-05	0	6.609e-05	0	0	0	0.0034	0.0002	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.184981	0.17001	N	0.581856	1	0.08975	N	-1.69	0.00363	N	.	.	.	0.65	0.02332	N	0.059	0.04547	-0.9673	0.37754	T	0.019	0.07939	T	9	0.021210015	0.00503	T	0.001588	0.02548	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.40139852566754197	0.40054	0.148798595494	0.16780	0.227173686028	0.01766	T	0.00505	0.04483	T	-0.568653	0.00225	T	-0.748631	0.03540	T	0.0148415500447413	0.00313	T	0.488951	0.15001	T	0.026587918	0.01736	0.027213858	0.00859	0.026587918	0.01736	0.027213858	0.00859	0.604	0.09611	T	.	.	0.084	0.12560	B	.;.;.;.	.;.;.;.	0.165295	0.05550	2.010	0.53775117034777775	0.05005	0.03896	0.09272	N	AEFBHCI	0.038111	0.05345	N	-1.43001432609419	0.02378	0.1049667	-1.3343336506405	0.03994	0.1874721	0.999716832213657	0.42101	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	5.35	1.57	0.22490	0.755000	0.26070	0.325000	0.17225	-0.116000	0.14526	0.000000	0.06391	0.000000	0.08366	0.944000	0.48669	0.691:0.1458:0.1632:0.0	5.513	0.16178	952	0.10565	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1157.98	41	chr21	46287083	.	G	A	1157.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=788;ExcessHet=0.0000;FS=1.854;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=-1.422e+00;SOR=0.947	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1229	20	0	1	0
chr21	46287125	46287125	-	A	splicing	YBEY	NM_001314026:exon2:c.210+2->A;NM_001006114:exon2:c.210+2->A;NM_001314022:exon2:c.210+2->A;NM_001314025:exon2:c.210+2->A;NM_058181:exon2:c.210+2->A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs530846715	0.0005	0.0032	0.0004	0.0005	0.0018	0.0004	0.0004	0.0014	0.0012	0.0018	0.0010	0.0006	0.0015	0.0004	0.0012	0.0003	0.0005	0.0012	0.0005	0.0005	0.0004	0.0005	0.0013	0.0004	0.0003	0.0010	0.0009	0.0012	0	6.661e-05	0	0.0008	0.0002	0	7.419e-05	0.0005	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	8455.27	32	chr21	46287125	.	T	TAAAAAA,TAAAAA,TA	8455.27	.	AC=7,7,1;AF=0.167,0.167,0.024;AN=42;BaseQRankSum=-1.320e+00;DP=957;ExcessHet=0.1361;FS=1.223;InbreedingCoeff=0.2741;MLEAC=7,7,1;MLEAF=0.167,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=21.35;ReadPosRankSum=-9.300e-02;SOR=0.767	GT:AD:DP:GQ:PL	0/1:26,10,0,0:38:99:381,0,1056,347,1092,1407,347,1092,1407,1407	10	0	3	0
chr21	46334440	46334440	T	C	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_006031:exon3:c.T311C:p.L104P,	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.0	B	0.0	B	.	.	1.000	N	0.805	L	4.73	T	-0.906	T	0.004	T	0.115	0.071	4.384	-1.3	-0.339	-0.267	1.424	0.003	0.000946260008969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.722e-06	0	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.048	0.48594	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999999	0.08975	N	1.355	0.33814	L	4.73	0.01620	T	-0.51	0.15986	N	0.142	0.14196	-0.9062	0.47308	T	0.004	0.01330	T	9	0.051737458	0.05101	T	9.46E-4	0.00934	T	0.003	0.00094	0.25	0.18757	0.168933306366	0.16529	0.0935148673327459	0.09283	0.440386559011	0.44048	0.441265195608	0.30750	T	0.023833	0.18124	T	-0.322477	0.06697	T	-0.700993	0.05771	T	0.0474042384630602	0.05037	T	0.274073	0.04660	T	0.06780605	0.14717	0.09035257	0.21183	0.06780605	0.14716	0.09035257	0.21183	-3.998	0.23774	T	.	.	0.078	0.06849	B	.	.	-0.121766	0.03515	0.665	0.52953166152778297	0.04846	0.00507	0.02380	N	AEFDGBCI	0.018636	0.00580	N	-1.38355956284628	0.02792	0.1237886	-1.48967170966429	0.02428	0.1116697	0.999553778650503	0.40362	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	1.35	-1.3	0.08777	-0.115000	0.10713	-4.971000	0.01904	-0.309000	0.06099	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.3281:0.2993:0.0:0.3725	1.424	0.02179	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	2586.98	36	chr21	46334440	.	T	C	2586.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.674e+00;DP=919;ExcessHet=0.0000;FS=5.174;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=0.296;SOR=0.411	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1178	20	0	1	0
chr21	46397402	46397402	G	A	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon22:c.G4000A:p.G1334R	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	.	0	1508	13	1	0	15	0.00494886	.	.	169657	not_specified|Intellectual_disability|not_provided|Microcephalic_osteodysplastic_primordial_dwarfism_type_II	MedGen:CN169374|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MedGen:C3661900|MONDO:MONDO:0008872,MedGen:C0432246,OMIM:210720,Orphanet:2637	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.08	T	0.999	D	0.814	P	0.304	N	1.000	N	1.39	L	0.33	T	-0.731	T	0.275	T	0.686	2.830	15.43	5.46	2.560	4.647	16.801	0.227	.	0.0015	0.00359425	0.0032	0.0004	0.0005	0	0	0.0025	0	0.0126	0.0030401	470	154602	rs143796569	0.0033	0.0033	0.0031	0.0036	0.0127	0.0032	0.0032	0.0121	0.0118	0.0006	0.0006	3.826e-05	0	0.0005	0.0017	0.0031	0.0038	0.0127	0.0019	0.0019	0.0017	0.0021	0.0162	0.0017	0.0017	0.0133	0.0122	0.0006	0.0011	0.0007	0.0003	0	0.0002	0	0.0025	0.0019	0.0162	0.108	0.29420	T	0.084	0.41239	T	0.998	0.73220	D	0.807	0.58472	P	0.303674	0.14554	N	0.511594	0.999996	0.08975	N	1.845	0.48678	L	0.33	0.58323	T	-2.26	0.50502	N	0.262	0.29659	-0.7313	0.58898	T	0.275	0.64691	T	10	0.008995593	0.00203	T	.	.	.	0.227	0.52620	0.235	0.16457	0.71884942748	0.71637	0.04303776020404046	0.04248	0.484201137751	0.47341	0.288807570934	0.08749	T	0.045761	0.27221	T	-0.27923	0.10749	T	-0.16284	0.58094	T	0.0360778288447019	0.02995	T	0.767723	0.39623	T	0.091336384	0.21400	0.09635771	0.22893	0.091336384	0.21399	0.09635771	0.22892	-3.128	0.11621	T	.	.	0.200	0.42375	B	.	.	3.667143	0.52131	23.2	0.99645901095198219	0.76943	0.83027	0.42181	D	AEFDBHCIJ	0.350761	0.44410	N	0.268513640601526	0.54561	3.621278	0.185254883641047	0.49038	3.111961	0.999999999999948	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.723109	0.80598	0	0.733575	0.97253	0	.	.	5.46	5.46	0.80021	4.162000	0.57962	6.481000	0.55737	-0.154000	0.11915	0.960000	0.33603	0.998000	0.33993	0.004000	0.06068	0.0:0.0:1.0:0.0	16.801	0.85476	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	2560.98	35	chr21	46397402	.	G	A	2560.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.600;DP=914;ExcessHet=0.0000;FS=1.673;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.20;ReadPosRankSum=-7.430e-01;SOR=0.584	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1248	20	0	1	0
chr21	46411844	46411844	C	T	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon28:c.C5417T:p.A1806V	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	.	3	1491	27	1	0	29	0.00963135	.	.	101238	not_specified|not_provided|Microcephalic_osteodysplastic_primordial_dwarfism_type_II	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008872,MedGen:C0432246,OMIM:210720,Orphanet:2637	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.5	T	0.007	B	0.004	B	0.968	N	1.000	N	0.55	N	4.86	T	-0.904	T	0.003	T	0.048	-0.903	0.431	-5.04	-1.613	-1.129	7.825	0.005	.	0.0049	0.00379393	0.0074	0.0038	0.0081	0	0.0025	0.0130	0.0075	0.0013	0.0042108	651	154602	rs184420466	0.0070	0.0069	0.0070	0.0070	0.0180	0.0069	0.0069	0.0149	0.0138	0.0019	0.0073	0.0081	2.696e-05	0.0015	0.0180	0.0079	0.0076	0.0014	0.0060	0.0060	0.0065	0.0054	0.0089	0.0056	0.0055	0.0083	0.0081	0.0025	0.0077	0.0083	0.0066	0	0.0008	0.0240	0.0089	0.0109	0.0006	0.783	0.03262	T	0.67	0.06305	T	0.004	0.12183	B	0.002	0.06944	B	0.967694	0.08180	N	0.976112	1	0.08975	N	0.11	0.08516	N	4.86	0.01459	T	-0.21	0.10308	N	0.046	0.01825	-0.9040	0.47561	T	0.003	0.00897	T	10	0.0041799545	0.00083	T	.	.	.	0.005	0.00259	.	.	0.27132560031	0.26736	0.1267878899616127	0.12604	0.333250129278	0.35360	0.337313055992	0.16035	T	0.020608	0.16197	T	-0.742702	0.00020	T	-0.833077	0.01209	T	0.000993703736705862	0.00010	T	0.431557	0.11736	T	0.020034153	0.00549	0.029777115	0.01353	0.020034153	0.00549	0.029777115	0.01353	-5.956	0.45909	T	.	.	0.112	0.22061	B	.	.	-0.587247	0.01607	0.109	0.47092030103825411	0.03823	0.03949	0.09349	N	AEFDBI	0.041355	0.06275	N	-1.75872060110767	0.00654	0.02821828	-1.79440240696888	0.00777	0.03466857	0.997609017072097	0.35808	0.700653	0.57754	0	0.577304	0.33150	0	0.717052	0.78885	0	0.491896	0.07777	0	.	.	5.7	-5.04	0.02742	-1.325000	0.02795	-0.901000	0.06991	-1.543000	0.00974	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1129:0.3:0.0:0.5871	7.825	0.28471	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	1067.98	36	chr21	46411844	.	C	T	1067.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.04;DP=794;ExcessHet=0.0000;FS=1.103;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.71;ReadPosRankSum=2.24;SOR=0.439	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1447	20	0	1	0
chr21	46411888	46411888	C	T	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon28:c.C5461T:p.R1821W	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	YES	2	1495	25	0	0	25	0.00829187	.	.	430495	not_specified|not_provided|Microcephalic_osteodysplastic_primordial_dwarfism_type_II	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008872,MedGen:C0432246,OMIM:210720,Orphanet:2637	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.463	P	0.045	B	0.873	N	1.000	N	1.65	L	4.46	T	-0.934	T	0.008	T	0.297	1.235	10.01	1.33	0.320	-0.114	6.648	0.045	.	.	0.00179712	0.0041	0.0004	0	0.0066	0	0.0006	0	0.0125	0.0014489	224	154602	rs575313866	0.0008	0.0008	0.0005	0.0011	0.0092	0.0008	0.0008	0.0087	0.0085	0.0002	0.0007	0	0.0019	0	0.0036	0.0002	0.0011	0.0092	0.0009	0.0009	0.0005	0.0013	0.0091	0.0008	0.0007	0.0070	0.0062	0.0003	0	0.0029	0	0.0033	0	0.0034	0.0002	0	0.0091	0.058	0.37750	T	0.002	0.79402	D	0.333	0.33288	B	0.02	0.19048	B	0.872705	0.07186	N	1.109980	1	0.08975	N	0.975	0.24501	L	4.46	0.02102	T	-4.48	0.77965	D	0.287	0.32481	-0.9345	0.43470	T	0.008	0.02760	T	10	0.006488085	0.00147	T	.	.	.	0.045	0.12272	.	.	0.596622473119	0.59341	0.4047333056021422	0.40389	0.156463821572	0.17657	0.265655070543	0.05582	T	0.290084	0.66286	T	-0.554294	0.00275	T	-0.561019	0.16281	T	0.0288619835273086	0.01817	T	0.669433	0.27806	T	0.08724008	0.20307	0.093958735	0.22219	0.08724008	0.20307	0.093958735	0.22219	-7.649	0.58652	D	.	.	0.226	0.45762	B	.	.	2.298956	0.29417	18.11	0.99402050036638068	0.62841	0.07687	0.13691	N	AEFDBI	0.118379	0.23151	N	-0.628964085889357	0.18078	0.9356798	-0.703033531436726	0.16885	0.8953257	0.941059141097762	0.27459	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.491896	0.07777	0	.	.	5.7	1.33	0.20958	0.047000	0.13941	0.340000	0.17371	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.057000	0.15750	0.5394:0.3716:0.0:0.0889	6.648	0.22140	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	1440.98	36	chr21	46411888	.	C	T	1440.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.37;DP=850;ExcessHet=0.0000;FS=1.499;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=-1.089e+00;SOR=0.806	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1447	20	0	1	0
chr21	46412027	46412027	C	T	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon28:c.C5600T:p.S1867F	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	.	0	1518	4	0	0	4	0.00131579	.	.	208755	not_provided|Microcephalic_osteodysplastic_primordial_dwarfism_type_II|not_specified	MedGen:C3661900|MONDO:MONDO:0008872,MedGen:C0432246,OMIM:210720,Orphanet:2637|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.62	P	0.371	B	.	.	1.000	N	0	N	4.72	T	-0.879	T	0.002	T	0.019	1.469	10.86	-2.84	-0.303	-0.308	7.738	0.043	.	0.0059	0.00399361	0.0017	0.0202	0.0014	0	0	0	0	0.0001	0.001533	237	154602	rs140398533	0.0006	0.0006	0.0007	0.0005	0.0201	0.0005	0.0005	0.0188	0.0183	0.0201	0.0012	0	0	0	0.0006	4.497e-06	0.0012	3.481e-05	0.0053	0.0053	0.0057	0.0050	0.0187	0.0050	0.0049	0.0176	0.0172	0.0187	0	0.0016	0	0	0	0	1.47e-05	0.0033	0	0.037	0.43085	D	0.051	0.47828	T	0.42	0.35330	B	0.096	0.30313	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	4.72	0.01636	T	-1.61	0.38734	N	0.235	0.26475	-0.8795	0.49801	T	0.002	0.00707	T	9	0.003622055	0.00066	T	.	.	.	0.043	0.11576	.	.	0.427940940899	0.42412	0.0907249108346175	0.09005	0.0934908158167	0.10561	0.316571772099	0.12902	T	0.036417	0.24096	T	-0.718699	0.00028	T	-0.788882	0.02195	T	0.0208180368468936	0.00782	T	0.389061	0.09624	T	0.051157154	0.09354	0.06188648	0.12020	0.051157154	0.09353	0.06188648	0.12020	-5.588	0.42683	T	.	.	0.153	0.33846	B	.	.	0.938768	0.13145	9.645	0.96583229216017497	0.30340	0.01461	0.04883	N	AEFDBI	0.019658	0.00703	N	-0.960679641919266	0.09454	0.4475166	-1.08920657943886	0.07912	0.3867889	0.849866535718319	0.25024	0.718356	0.82227	0	0.577304	0.33150	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	3.73	-2.84	0.05408	-0.040000	0.12056	-2.334000	0.03886	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2711:0.2123:0.5166:0.0	7.738	0.27992	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	857.98	36	chr21	46412027	.	C	T	857.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.099;DP=794;ExcessHet=0.0000;FS=0.966;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.41;ReadPosRankSum=1.88;SOR=0.803	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1447	20	0	1	0
chr21	46431973	46431973	A	G	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon38:c.A8155G:p.K2719E	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.98	D	0.701	P	0.003	N	0.995	N	1.04	L	4.64	T	-0.946	T	0.009	T	0.194	3.448	17.67	2.79	0.379	1.417	11.909	0.050	0.00890663867455	.	.	4.142e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs771959458	1.847e-05	1.847e-05	8.168e-06	2.888e-05	0.0003	1.265e-05	1.084e-05	0.0002	0.0002	0	0	0	0	0	0	8.993e-07	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.45393	D	0.092	0.39954	T	0.966	0.56202	D	0.505	0.47795	P	0.003088	0.35449	N	0.000000	0.99479	0.23443	N	2.19	0.61577	M	4.64	0.01799	T	-2.33	0.51646	N	0.258	0.29197	-0.9461	0.41632	T	0.009	0.03315	T	10	0.16442165	0.30762	T	0.008907	0.23487	T	0.050	0.13987	0.245	0.17984	0.576874179423	0.57357	0.10850244875157723	0.10779	0.343834707981	0.36306	0.292673200369	0.09313	T	0.127045	0.45381	T	-0.427172	0.01542	T	-0.535224	0.18769	T	0.32207783955517	0.25906	T	0.473153	0.14076	T	0.18561676	0.39932	0.24421275	0.49882	0.18561676	0.39931	0.24421275	0.49881	-4.608	0.32272	T	.	.	0.168	0.36986	B	.	.	3.431932	0.47700	22.5	0.99710132285119768	0.81283	0.97501	0.75158	D	AEFDGBI	0.333528	0.43259	N	0.084593867511131	0.45744	2.825916	0.0823585541218907	0.43662	2.663318	0.999834577939866	0.43792	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.21	2.79	0.31792	3.117000	0.50099	2.153000	0.30925	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	0.762000	0.36218	0.5448:0.4552:0.0:0.0	11.909	0.52009	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1438.98	43	chr21	46431973	.	A	G	1438.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.490e-01;DP=1039;ExcessHet=0.0000;FS=5.559;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=-7.900e-01;SOR=1.198	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr21	46498665	46498665	G	A	exonic	DIP2A	.	nonsynonymous SNV	DIP2A:NM_001146115:exon5:c.G487A:p.V163I	.	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.005	B	0.012	B	0.155	N	0.916	D	0.77	N	1.95	T	-1.040	T	0.028	T	0.107	2.354	13.83	-0.171	-0.347	1.606	5.795	0.102	.	0.0004	0.00239617	0.0023	0.0001	0.0008	0	0.0002	0.0005	0.0056	0.0134	0.0019534	302	154602	rs199555654	0.0012	0.0012	0.0008	0.0016	0.0129	0.0011	0.0011	0.0123	0.0120	2.987e-05	0.0002	0.0001	5.038e-05	0.0003	0.0029	0.0004	0.0008	0.0129	0.0006	0.0006	0.0005	0.0007	0.0098	0.0005	0.0004	0.0076	0.0068	2.408e-05	0	0.0007	0	0.0004	0.0005	0	0.0003	0.0005	0.0098	0.513	0.07846	T	0.685	0.09760	T	0.002	0.12996	B	0.008	0.16012	B	0.154993	0.17844	N	0.553623	0.916083	0.36543	D	1.155	0.29575	L	1.95	0.22678	T	-0.02	0.14978	N	0.101	0.12913	-1.0395	0.17465	T	0.028	0.12190	T	10	0.0039798617	0.00077	T	.	.	.	0.102	0.29158	.	.	0.171220215726	0.16700	0.14141041502785617	0.14064	0.203220193723	0.22737	0.23514983058	0.02371	T	0.016431	0.13584	T	-0.598165	0.00150	T	-0.620322	0.11160	T	0.0129738828206204	0.00225	T	0.69953	0.30934	T	0.016957363	0.00235	0.019281289	0.00083	0.016957363	0.00235	0.019281289	0.00083	-4.619	0.35351	T	.	.	0.079	0.07697	B	.;.;.;.;.	.;.;.;.;.	1.436971	0.18559	13.80	0.98899051363821378	0.48145	0.93939	0.59631	D	AEFDGBI	0.203856	0.33033	N	-0.524796650724327	0.21281	1.128194	-0.410740659589951	0.24682	1.352972	0.999989550224191	0.51787	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.54	-0.171	0.12677	1.725000	0.37696	-1.545000	0.05202	0.676000	0.76740	0.576000	0.27554	0.000000	0.08366	0.998000	0.85391	0.3391:0.1261:0.5348:0.0	5.795	0.17647	934	0.15400	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1286.98	34	chr21	46498665	.	G	A	1286.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.400e-01;DP=819;ExcessHet=0.0000;FS=4.404;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.55;ReadPosRankSum=-1.784e+00;SOR=0.397	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1135	20	0	1	0
chr22	15690401	15690401	C	G	exonic	POTEH	.	nonsynonymous SNV	POTEH:NM_001136213:exon1:c.C324G:p.C108W,	.	.	457	1026	36	2	1	41	0.0191205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs202187764	0.0033	0.0074	0.0029	0.0037	0.0183	0.0032	0.0032	0.0171	0.0167	0.0011	0.0050	0.0038	0.0183	0.0040	0.0023	0.0019	0.0042	0.0138	0.0013	0.0045	0.0010	0.0016	0.0057	0.0011	0.0010	0.0036	0.0030	0.0004	0	0.0014	0.0008	0.0050	0.0046	0	0.0008	0.0013	0.0057	0.135	0.26192	T	0.081	0.41742	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.2	0.37405	T	-1.44	0.35399	N	0.357	0.39861	.	.	.	.	.	.	.	0.045320213	0.03589	T	.	.	.	.	.	.	.	.	.	0.7988924948495643	0.79842	.	.	.	.	.	0.012318	0.10847	T	.	.	.	.	.	.	.	.	.	0.491551	0.15120	T	.	.	.	.	.	.	.	.	-2.632	0.06750	T	.	.	0.132	0.28377	B	.	.	0.989631	0.13675	10.21	.	.	.	.	.	.	0.081464	0.16484	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.401000	0.07293	.	.	-1.191000	0.01374	0.016000	0.19238	0.000000	0.08366	0.002000	0.04165	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	410.2	115	chr22	15690401	.	C	G	410.2	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.08;DP=1002;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.8100;MLEAC=1;MLEAF=0.024;MQ=40.39;MQRankSum=-8.200e-01;QD=27.35;ReadPosRankSum=-1.511e+00;SOR=0.527	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	1	0	0
chr22	15698739	15698743	AAATT	-	exonic	POTEH	.	frameshift deletion	POTEH:NM_001136213:exon4:c.999_1003del:p.N334Kfs*5,	.	.	452	1065	5	0	0	5	0.00234192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0001	0.0010	0	0	0.0003	0	6.059e-05	0.0003842	10	26028	rs753176584	0.0001	0.0050	0.0001	0.0001	0.0023	0.0001	0.0001	0.0020	0.0018	3.001e-05	0.0023	0.0002	0.0003	0.0002	0	5.619e-05	0.0001	0.0001	0.0007	0.0089	0.0005	0.0009	0.0040	0.0006	0.0006	0.0032	0.0029	0.0002	0.0048	0.0040	0.0003	0.0002	0.0008	0	0.0003	0.0014	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1048.94	181	chr22	15698738	.	CAAATT	C	1048.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.976;DP=4597;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=40.61;MQRankSum=-5.753e+00;QD=0.83;ReadPosRankSum=-1.121e+00;SOR=0.752	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1620	20	0	1	0
chr22	15698769	15698769	G	T	splicing	POTEH	NM_001136213:exon4:c.1028+1G>T	.	.	.	.	498	1014	9	0	1	10	0.00441826	0.9999	0.792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	0.597	7.219	1.38	1.077	3.320	6.232	.	.	.	.	4.331e-05	0	0	0	0	6.256e-05	0.0012	0	3.84e-05	1	26028	rs768456850	3.639e-05	0.0009	1.775e-05	5.524e-05	0.0005	2.838e-05	2.574e-05	0.0003	0.0003	2.994e-05	0	0	0	0	0.0005	1.08e-05	1.665e-05	0.0004	7.241e-05	0.0008	3.864e-05	0.0001	0.0011	3.978e-05	3.133e-05	0.0004	0.0003	2.419e-05	0	6.543e-05	0	0	0	0	5.886e-05	0	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.252898	0.13744	T	-0.601047	0.12723	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.520591	0.49350	22.8	0.8413159350197662	0.15115	0.65230	0.32668	D	AEFI	.	.	.	0.409239379146491	0.61929	4.40093	0.0426914032857451	0.41721	2.511202	1.53527211741348E-5	0.02871	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0859718	0.19548	1.54	1.54	0.22290	4.447000	0.59762	.	.	0.318000	0.19305	1.000000	0.71638	1.000000	0.68203	0.046000	0.14843	0.0:0.0:1.0:0.0	6.574	0.21751	.	.	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1582.98	181	chr22	15698769	.	G	T	1582.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.141;DP=3894;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=41.13;MQRankSum=-1.392e+00;QD=3.55;ReadPosRankSum=2.30;SOR=0.772	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,108,1620	20	0	1	0
chr22	15711017	15711017	G	T	exonic	POTEH	.	nonsynonymous SNV	POTEH:NM_001136213:exon9:c.G1503T:p.E501D,	.	.	424	1089	9	0	0	9	0.00411523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1470465845	2.604e-05	0.0005	1.09e-05	4.134e-05	0.0007	1.936e-05	1.695e-05	0.0002	0.0001	0	0	0	0	0	0.0007	9.898e-06	1.659e-05	0.0003	1.316e-05	0.0002	0	2.691e-05	0.0004	2.19e-06	8.2e-07	7.344e-05	3.049e-05	0	0	0	0	0	0	0	0	0	0.0004	0.005	0.63226	D	0.213	0.26467	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.51	0.30937	T	-0.81	0.22294	N	0.358	0.41063	-1.0493	0.14593	T	0.063	0.26065	T	9	0.10650462	0.19740	T	0.00104	0.01167	T	.	.	0.277	0.23004	0.0138822411134	0.00435	0.02823830488701238	0.02773	.	.	0.650555491447	0.60064	T	0.004782	0.04195	T	-0.191801	0.21993	T	-0.513286	0.20977	T	0.136628453409336	0.15982	T	0.681532	0.29028	T	.	.	.	.	.	.	.	.	-4.412	0.29719	T	.	.	0.156	0.34470	B	.;.	.;.	0.768235	0.11380	7.995	0.98322555819485691	0.40261	0.00981	0.03737	N	AEFI	0.031899	0.03500	N	-1.00265464351718	0.08549	0.4012335	-1.2184934362017	0.05612	0.267929	1.134474640041E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.58	-0.403	0.11782	-0.320000	0.08070	.	.	-0.632000	0.04510	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	0.4253:0.0:0.5747:0.0	4.081	0.09402	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	36.98	183	chr22	15711017	.	G	T	36.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.908e+00;DP=4915;ExcessHet=0.0000;FS=4.741;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=34.45;MQRankSum=-2.323e+00;QD=0.09;ReadPosRankSum=0.293;SOR=0.426	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1296	20	0	1	0
chr22	16799888	16799888	T	C	exonic	XKR3	.	nonsynonymous SNV	XKR3:NM_001318251:exon3:c.A472G:p.M158V	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.002	B	0.002	B	0.667	U	1.000	N	0.145	N	-0.02	T	-1.053	T	0.054	T	0.068	0.244	5.319	0.945	0.727	1.549	6.176	0.038	.	0.0072	0.00459265	0.0015	0.0174	0.0006	0	0	0	0	0	0.0013454	208	154602	rs112619670	0.0006	0.0006	0.0007	0.0005	0.0213	0.0006	0.0005	0.0200	0.0195	0.0213	0.0010	0.0003	0	0	0.0002	1.169e-05	0.0013	5.797e-05	0.0057	0.0057	0.0058	0.0056	0.0200	0.0054	0.0053	0.0189	0.0184	0.0200	0	0.0020	0.0006	0	0	0	4.41e-05	0.0019	0	0.291	0.14945	T	0.678	0.06147	T	0.002	0.09854	B	0.002	0.06944	B	0.666522	0.10380	U	0.815815	1	0.08975	N	0.345	0.11182	N	-0.02	0.62918	T	-0.45	0.14782	N	0.133	0.12913	-1.0532	0.13520	T	0.054	0.22731	T	10	0.003227383	0.00055	T	.	.	.	0.038	0.09825	.	.	0.0920862733494	0.08535	0.0876662676830755	0.08699	0.0909394490045	0.10271	.	.	.	0.01004	0.09096	T	-0.585525	0.00178	T	-0.599563	0.12848	T	0.00798539622158165	0.00094	T	0.287271	0.05164	T	0.058378037	0.11738	0.07984042	0.18010	0.058378037	0.11737	0.07984042	0.18010	-2.921	0.09355	T	.	.	0.102	0.17995	B	.	.	0.037065	0.04542	1.235	0.46048970712858706	0.03659	0.03868	0.09231	N	AEFI	0.031244	0.03299	N	-0.998326746449941	0.08640	0.4058614	-1.02724222388161	0.09188	0.4557403	0.905964668266707	0.26218	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.945	0.945	0.18667	1.505000	0.35344	0.293000	0.16894	0.330000	0.19542	0.724000	0.28861	0.008000	0.19753	0.003000	0.05239	0.0:0.0:0.0:1.0	6.176	0.19662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2753.98	35	chr22	16799888	.	T	C	2753.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.481e+00;DP=936;ExcessHet=0.0000;FS=1.058;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=0.186;SOR=0.635	GT:AD:DP:GQ:PL	0/1:98,115:213:99:2768,0,2490	20	0	1	0
chr22	16799999	16799999	G	A	exonic	XKR3	.	nonsynonymous SNV	XKR3:NM_001318251:exon3:c.C361T:p.H121Y	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99	T	0.022	B	0.006	B	.	.	1.000	N	0	N	0.09	T	-1.045	T	0.031	T	0.105	-2.609	0	-1.52	-0.864	0.225	1.888	0.034	.	0.0073	0.00459265	0.0015	0.0175	0.0005	0	0	0	0	0	0.0013389	207	154602	rs111932609	0.0006	0.0006	0.0007	0.0005	0.0213	0.0005	0.0005	0.0200	0.0195	0.0213	0.0008	0	0	0	0.0002	8.094e-06	0.0013	5.797e-05	0.0057	0.0057	0.0057	0.0056	0.0200	0.0054	0.0052	0.0189	0.0184	0.0200	0	0.0018	0	0	0	0	4.412e-05	0.0019	0	1.0	0.00964	T	1.0	0.01155	T	0.022	0.18677	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	0.09	0.61443	T	1.59	0.00660	N	0.243	0.27435	-1.0451	0.15796	T	0.031	0.13286	T	9	0.003776431	0.00070	T	.	.	.	0.034	0.08419	.	.	0.18274738541	0.17906	0.05404719272918024	0.05346	0.112868008101	0.12739	.	.	.	0.001498	0.00943	T	-0.584346	0.00181	T	-0.597869	0.12990	T	0.0046559312885301	0.00050	T	0.319168	0.06405	T	0.034145664	0.03776	0.046027567	0.06324	0.034145664	0.03776	0.046027567	0.06324	-1.63	0.02053	T	.	.	0.090	0.12844	B	.	.	0.119702	0.05175	1.692	0.20736271978626744	0.00759	0.00321	0.01686	N	AEFI	0.013297	0.00172	N	-1.39737615074253	0.02663	0.1179055	-1.44788084225146	0.02789	0.1289393	0.861935010717376	0.25243	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.762	-1.52	0.08181	0.239000	0.17800	-0.605000	0.08250	0.331000	0.19555	0.534000	0.27220	0.000000	0.08366	0.010000	0.09038	0.4647:0.0:0.2642:0.2711	1.888	0.03044	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1364.98	35	chr22	16799999	.	G	A	1364.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.24;DP=833;ExcessHet=0.0000;FS=10.268;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=-1.082e+00;SOR=1.806	GT:AD:DP:GQ:PL	0/1:57,44:101:99:1379,0,1634	20	0	1	0
chr22	17120896	17120896	C	T	exonic	TMEM121B	.	nonsynonymous SNV	TMEM121B:NM_031890:exon1:c.G232A:p.D78N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.855	P	0.073	U	1.000	N	0.55	N	.	.	-1.077	T	0.096	T	0.058	3.073	16.26	2.97	1.628	3.838	9.185	0.166	0.761054253184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.295	0.20680	T	0.997	0.70673	D	0.855	0.60933	P	0.072886	0.21381	U	0.352176	1	0.81001	D	.	.	.	.	.	.	0.07	0.06138	N	0.136	0.13341	-1.0768	0.07983	T	0.096	0.36055	T	9	0.23576981	0.40644	T	0.761054	0.98103	D	0.166	0.42578	0.102	0.01589	0.341696514166	0.33777	0.10159109705926996	0.10090	.	.	0.946464002132	0.99665	D	0.00739	0.06799	T	-0.221407	0.17801	T	-0.555813	0.16771	T	0.554075896425093	0.34630	D	0.454055	0.12934	T	0.2190354	0.44426	0.22696173	0.47690	0.2190354	0.44426	0.22696173	0.47689	-6.216	0.48053	T	.	.	0.159	0.35247	B	.	.	3.800189	0.54757	23.5	0.99450277576080826	0.65223	0.35678	0.25357	N	AEFDBHCIJ	.	.	.	0.197424543262671	0.51076	3.291744	0.15479848556572	0.47396	2.970525	0.999993669417272	0.74766	0.56387	0.32371	0	0.296712	0.05252	1	0.503968	0.08637	0	0.554799	0.18163	0	.	.	2.97	2.97	0.33479	1.425000	0.34467	6.951000	0.57024	0.272000	0.18543	0.003000	0.16062	1.000000	0.68203	0.961000	0.51904	0.218:0.782:0.0:0.0	9.185	0.36326	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	37.0	10	chr22	17120896	.	C	T	37.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.360e+00;DP=330;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0261;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.85;ReadPosRankSum=2.17;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:17,0:17:51:.:.:0,51,522	20	0	1	0
chr22	17120916	17120916	C	T	exonic	TMEM121B	.	nonsynonymous SNV	TMEM121B:NM_031890:exon1:c.G212A:p.S71N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.001	B	0.003	B	0.470	U	1.000	N	0.55	N	.	.	-1.014	T	0.067	T	0.045	1.806	12.00	1.68	0.477	1.393	8.761	0.046	0.63002123976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.14111	T	0.197	0.27855	T	0.001	0.07471	B	0.003	0.08700	B	0.469546	0.12294	U	0.713845	1	0.81001	D	.	.	.	.	.	.	0.06	0.06253	N	0.109	0.09490	-1.0140	0.25656	T	0.067	0.27606	T	9	0.09371251	0.16605	T	0.630021	0.96820	D	0.046	0.12618	0.147	0.05039	0.18274738541	0.17906	0.22380199092251968	0.22295	.	.	0.941132187843	0.99497	D	0.006822	0.06247	T	-0.316751	0.07167	T	-0.692767	0.06230	T	0.0901065766811371	0.11230	T	0.260474	0.04175	T	0.099947244	0.23594	0.089295894	0.20874	0.099947244	0.23594	0.089295894	0.20873	-6.911	0.53380	T	.	.	0.351	0.56644	A	.	.	3.081834	0.41459	21.4	0.98287155360890854	0.39916	0.12803	0.17489	N	AEFDBHCIJ	.	.	.	-0.5845558346033	0.19414	1.015825	-0.508194408768589	0.21931	1.188707	0.999984464308413	0.51787	0.56387	0.32371	0	0.296712	0.05252	1	0.503968	0.08637	0	0.554799	0.18163	0	.	.	2.73	1.68	0.23219	-0.261000	0.08718	2.206000	0.31328	0.272000	0.18543	0.000000	0.06391	1.000000	0.68203	0.975000	0.56047	0.0:0.8772:0.0:0.1227	8.761	0.33831	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	39.99	8	chr22	17120916	.	C	T	39.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.360e+00;DP=349;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0251;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=3.33;ReadPosRankSum=1.29;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:18,0:18:51:.:.:0,51,765	20	0	1	0
chr22	17159184	17159184	G	C	exonic	HDHD5	.	nonsynonymous SNV	HDHD5:NM_033070:exon1:c.C68G:p.A23G,	.	.	438	1081	3	0	0	3	0.00138568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.52	P	0.14	B	0.093	N	1.000	N	0	N	1.9	T	-1.064	T	0.029	T	0.131	2.068	12.87	-1.27	-0.280	-0.081	4.993	0.011	.	.	.	0.0119	0	.	0	0	0	.	0.5	2.59e-05	4	154602	rs762935429	1.976e-05	1.851e-05	1.785e-05	2.188e-05	0.0005	1.269e-05	1.077e-05	0.0003	0.0002	0	0	0.0004	0	0	0	2.203e-06	9.459e-05	0.0005	3.315e-05	3.286e-05	2.59e-05	4.077e-05	0.0004	1.27e-05	8.04e-06	7.312e-05	3.037e-05	0	0	0	0.0006	0	0	0	1.48e-05	0	0.0004	0.279	0.15561	T	0.545	0.30339	T	0.252	0.37518	B	0.046	0.33554	B	0.092628	0.02469	N	2.156600	1	0.08975	N	.	.	.	1.9	0.25344	T	-0.13	0.31375	N	0.162	0.30574	-1.0637	0.10855	T	0.029	0.12322	T	10	0.0019942522	0.00028	T	.	.	.	0.011	0.01250	0.439	0.49321	0.0297737177859	0.01360	0.2856602383385985	0.28479	0.183019468109	0.20584	0.743837893009	0.73537	T	0.002232	0.01633	T	-0.303529	0.08331	T	-0.673775	0.07368	T	0.375364273786545	0.28004	T	0.329067	0.15423	T	0.040015228	0.05634	0.055125155	0.09611	0.040015228	0.05634	0.055125155	0.09610	-3.592	0.17742	T	.	.	0.064	0.08176	B	.;.	.;.	0.522668	0.08917	5.695	0.89773634207811637	0.19088	0.04800	0.10519	N	ALL	0.042748	0.06672	N	-1.26777256562825	0.04070	0.1830002	-1.36495707322495	0.03632	0.1698515	0.999999999964074	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	2.15	-1.27	0.08863	-0.473000	0.06694	0.291000	0.16873	-0.969000	0.01949	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5715:0.0:0.4285:0.0	4.993	0.13569	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	606.98	35	chr22	17159184	.	G	C	606.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.224e+00;DP=903;ExcessHet=0.0000;FS=1.150;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=-9.800e-01;SOR=0.438	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1192	20	0	1	0
chr22	17189987	17189987	C	T	exonic	ADA2	.	nonsynonymous SNV	ADA2:NM_177405:exon3:c.G204A:p.M68I	Polyarteritis nodosa, childhood-onset, Autosomal recessive	.	435	1077	10	0	0	10	0.00462107	.	.	361951	Autoinflammatory_syndrome|Vasculitis_due_to_ADA2_deficiency|not_specified|ADA2-related_disorder|Behcet_disease|not_provided	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0014306,MedGen:C3887654,OMIM:615688,Orphanet:404553|MedGen:CN169374|.|MONDO:MONDO:0007191,MedGen:C0004943,OMIM:109650,Orphanet:117|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.8	T	0.002	B	0.004	B	0.013	N	0.990	N	0.05	N	-3.64	D	-0.551	T	0.537	D	0.285	-0.818	0.629	2.94	0.611	1.036	8.197	0.291	0.0587339994777	0.0016	0.000599042	0.0020	0.0003	0.0011	0	0	0.0027	0.0033	0.0025	0.0019275	298	154602	rs146597836	0.0015	0.0015	0.0014	0.0016	0.0120	0.0015	0.0015	0.0097	0.0089	0.0002	0.0016	0.0052	0	5.617e-05	0.0120	0.0015	0.0022	0.0021	0.0016	0.0016	0.0017	0.0015	0.0019	0.0014	0.0014	0.0016	0.0015	0.0002	0.0559	0.0013	0.0049	0	9.409e-05	0.0102	0.0019	0.0033	0.0010	0.43	0.14352	T	0.595	0.23776	T	0.002	0.09854	B	0.004	0.10090	B	0.013417	0.28850	N	0.427671	0.992317	0.24224	N	.	.	.	-3.64	0.95145	D	-1.58	0.42191	N	0.286	0.37923	-0.5509	0.66753	T	0.537	0.82887	D	10	0.004589975	0.00096	T	0.058734	0.67421	D	0.291	0.61040	0.71	0.84601	0.709851813534	0.70731	0.5295657912961719	0.52880	0.047616438031	0.05199	0.357759594917	0.19058	T	0.023813	0.70943	T	-0.272913	0.11434	T	-0.170655	0.57384	T	0.00253400410243227	0.00026	T	0.567243	0.20478	T	0.2564481	0.48684	0.13418488	0.32159	0.23145595	0.45917	0.14693484	0.34792	-1.807	0.03593	T	0.17883202116306676	0.22940	0.367	0.61602	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.923658	0.12988	9.492	0.70132654671093253	0.09196	0.54814	0.29708	D	AEFBI	0.108180	0.21529	N	-0.886310951820813	0.11168	0.537478	-0.793964837442493	0.14643	0.7661527	0.848173156540244	0.24993	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.14	2.94	0.33188	1.067000	0.30227	0.316000	0.17134	0.599000	0.40250	0.678000	0.28421	0.048000	0.21764	0.040000	0.14268	0.165:0.5733:0.2617:0.0	8.197	0.30565	994	0.00715	Adenosine/AMP deaminase domain;Adenosine/AMP deaminase domain;Adenosine/AMP deaminase domain;.;Adenosine/AMP deaminase domain;Adenosine/AMP deaminase domain;Adenosine/AMP deaminase domain;Adenosine/AMP deaminase domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	957.98	33	chr22	17189987	.	C	T	957.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.658;DP=759;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=-1.394e+00;SOR=0.687	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1209	20	0	1	0
chr22	17548817	17548817	G	A	exonic	CECR2	.	nonsynonymous SNV	CECR2:NM_001290046:exon17:c.G3038A:p.R1013H	.	.	426	1065	30	1	0	32	0.0148011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.996	D	0.000	D	0.803	D	1.725	L	1.58	T	-0.804	T	0.135	T	0.442	3.273	16.99	3.07	1.064	4.067	8.031	0.092	.	0.0007	0.00579073	0.0043	0.0003	0.0006	0.0002	0	0.0009	0.0022	0.0266	0.0036351	562	154602	rs200418423	0.0022	0.0022	0.0014	0.0029	0.0267	0.0021	0.0021	0.0258	0.0255	0.0002	0.0005	0.0047	2.519e-05	0	0.0085	0.0004	0.0029	0.0267	0.0014	0.0014	0.0010	0.0018	0.0256	0.0012	0.0012	0.0219	0.0205	0.0002	0	0.0008	0.0052	0.0002	0	0.0034	0.0007	0.0019	0.0256	0.0	0.91255	D	0.007	0.74150	D	1.0	0.90584	D	0.996	0.84481	D	0.000123	0.49741	D	0.000000	0.802596	0.34531	D	2.485	0.72352	M	1.58	0.29085	T	-1.73	0.41046	N	0.455	0.49237	-0.8044	0.54885	T	0.135	0.45029	T	10	0.0065469146	0.00148	T	.	.	.	0.092	0.26621	.	.	0.522664700966	0.51911	0.3080170032615043	0.30714	.	.	0.470560133457	0.34757	T	0.097323	0.40003	T	-0.400013	0.02315	T	-0.326418	0.41865	T	0.0489526375774208	0.05315	T	0.957304	0.83911	D	0.07036674	0.15493	0.07400179	0.16143	0.07036674	0.15493	0.07400179	0.16143	-2.476	0.05620	T	.	.	0.079	0.10159	B	.;.;.;.	.;.;.;.	3.736716	0.53487	23.4	0.99944137029088442	0.99868	0.89588	0.50148	D	AEFDBI	0.311219	0.41702	N	0.457077275495663	0.64607	4.718927	0.386242642175001	0.60714	4.262352	0.356995313021246	0.19739	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.564101	0.26826	0	.	.	4.11	3.07	0.34476	3.345000	0.51899	6.595000	0.56038	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.446000	0.27806	0.0856:0.1618:0.7527:0.0	8.031	0.29624	982	0.03397	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	8518.11	307	chr22	17548817	.	G	A	8518.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.15;DP=1461;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=1.24;SOR=0.694	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	19	0	2	0
chr22	17549119	17549119	C	A	exonic	CECR2	.	nonsynonymous SNV	CECR2:NM_001290046:exon17:c.C3340A:p.P1114T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.99	D	0.702	P	0.000	D	0.599	D	2.075	M	1.82	T	-0.858	T	0.092	T	0.236	1.853	12.16	2.84	0.604	1.088	8.197	0.066	0.0315530176331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.017	0.60972	D	0.99	0.63424	D	0.702	0.54226	P	0.000173	0.48594	D	0.000000	0.599485	0.32526	D	2.455	0.71248	M	1.82	0.25018	T	-3.23	0.65056	D	0.411	0.53708	-0.8576	0.51434	T	0.092	0.35092	T	10	0.16733053	0.31221	T	0.031553	0.53611	D	0.066	0.19193	0.13	0.03494	0.417460480802	0.41365	0.09643574505551696	0.09575	.	.	0.307515144348	0.11532	T	0.385006	0.74649	T	-0.156018	0.27375	T	-0.461886	0.26394	T	0.980898976325989	0.73608	D	0.865113	0.56350	D	0.073402435	0.16401	0.09139984	0.21488	0.073402435	0.16400	0.09139984	0.21487	-3.648	0.18553	T	.	.	0.073	0.04723	B	.;.;.;.	.;.;.;.	2.156422	0.27469	17.47	0.99387619760090362	0.62202	0.57243	0.30326	D	AEFDBI	0.192892	0.32003	N	-0.0580602029455868	0.39243	2.311067	-0.13744173044113	0.33894	1.943799	0.169176231369232	0.17709	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.564101	0.26826	0	.	.	4.93	2.84	0.32241	1.296000	0.32994	0.106000	0.14715	-0.202000	0.08738	0.042000	0.21073	0.000000	0.08366	0.376000	0.26245	0.0:0.7527:0.0:0.2473	8.197	0.30563	982	0.03397	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1289.98	40	chr22	17549119	.	C	A	1289.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.92;DP=902;ExcessHet=0.0000;FS=0.808;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.33;ReadPosRankSum=-3.230e-01;SOR=0.579	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,99,1485	20	0	1	0
chr22	17588025	17588025	G	A	exonic	SLC25A18	.	nonsynonymous SNV	SLC25A18:NM_001303484:exon8:c.G676A:p.V226M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.025	B	0.027	B	0.840	N	1.000	N	1.29	L	-1.33	T	-0.895	T	0.267	T	0.231	0.482	6.618	-5.73	-1.094	-1.209	1.522	0.130	0.010170895584	7.7e-05	.	0.0001	9.61e-05	8.639e-05	0	0	4.495e-05	0	0.0006	0.0001035	16	154602	rs371516757	5.746e-05	5.746e-05	3.131e-05	8.388e-05	0.0008	4.743e-05	4.366e-05	0.0006	0.0006	0.0002	0	0	5.038e-05	0	0.0002	4.496e-06	1.656e-05	0.0008	0.0001	0.0001	8.994e-05	0.0001	0.0012	6.513e-05	5.324e-05	0.0005	0.0004	0.0002	0	0	0	0.0002	0	0	2.94e-05	0	0.0012	0.109	0.29288	T	0.151	0.32355	T	0.025	0.19245	B	0.027	0.21085	B	0.839628	0.06991	N	1.078840	1	0.08975	N	1.27	0.32069	L	-1.33	0.79854	T	-0.78	0.21644	N	0.186	0.22870	-0.8952	0.48465	T	0.267	0.63791	T	10	0.031377405	0.01271	T	0.010171	0.26390	T	0.130	0.35528	.	.	0.337868961071	0.33390	0.48480206602974163	0.48400	0.202693740654	0.22690	0.284728050232	0.08161	T	0.118728	0.43975	T	-0.368153	0.03688	T	-0.405808	0.32710	T	0.00631482080656587	0.00070	T	0.877412	0.59112	D	0.02996821	0.02580	0.05034871	0.07882	0.02996821	0.02579	0.05034871	0.07882	-5.333	0.40268	T	.	.	0.081	0.08176	B	.;.	.;.	-0.877347	0.00964	0.038	0.90552087030780415	0.19807	0.03655	0.08911	N	AEFBI	0.211494	0.33727	N	-1.35374587861508	0.03087	0.13732	-1.45836763682679	0.02695	0.1244413	0.632146964077484	0.21977	0.660377	0.49826	0	0.547309	0.14657	0	0.696353	0.63694	0	0.613276	0.41899	0	.	.	4.83	-5.73	0.02204	-1.680000	0.02040	-3.351000	0.02854	-0.697000	0.04075	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.3454:0.2261:0.3137:0.1149	1.522	0.02365	889	0.27310	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1775.98	40	chr22	17588025	.	G	A	1775.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.224e+00;DP=875;ExcessHet=0.0000;FS=3.650;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.83;ReadPosRankSum=-3.390e-01;SOR=0.444	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1151	20	0	1	0
chr22	17689010	17689010	G	A	exonic	BCL2L13	.	nonsynonymous SNV	BCL2L13:NM_001270726:exon3:c.G326A:p.R109H	.	.	424	1075	22	1	0	24	0.0110396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.998	D	0.78	P	0.045	N	1.000	D	0.345	N	3.56	T	-0.793	T	0.011	T	0.223	3.669	18.65	4.57	1.352	3.917	9.374	0.059	.	0.0058	0.00638978	0.0085	0.0012	0.0089	0.0001	0.0156	0.0104	0.0088	0.0065	0.00804	1243	154602	rs61741787	0.0088	0.0088	0.0089	0.0087	0.0260	0.0087	0.0086	0.0226	0.0213	0.0019	0.0099	0.0088	5.039e-05	0.0162	0.0260	0.0089	0.0105	0.0069	0.0072	0.0072	0.0068	0.0076	0.0109	0.0068	0.0067	0.0095	0.0090	0.0016	0	0.0109	0.0084	0.0004	0.0195	0.0306	0.0084	0.0076	0.0064	0.135	0.27663	T	0.144	0.33442	T	0.945	0.73220	P	0.481	0.57283	P	0.045303	0.23550	N	0.491473	1	0.81001	D	1.79	0.46772	L	3.56	0.04696	T	-0.96	0.46673	N	0.417	0.47022	-0.7933	0.55537	T	0.011	0.03949	T	10	0.008024782	0.00182	T	.	.	.	0.059	0.16972	.	.	0.241664281697	0.23763	0.24012876412980433	0.23926	0.151046914989	0.17050	0.245401352644	0.03299	T	0.016618	0.27242	T	-0.51851	0.00449	T	-0.510046	0.21310	T	0.0205169027326303	0.00751	T	0.915608	0.72990	D	0.04604829	0.07641	0.029454181	0.01286	0.04604829	0.07640	0.029454181	0.01286	-3.107	0.11586	T	.	.	0.184	0.39815	B	.;.;.;.;.;.	.;.;.;.;.;.	2.806007	0.36928	20.4	0.99895227752262639	0.96819	0.94183	0.60365	D	AEFBI	0.638655	0.61700	D	0.168550375348562	0.49691	3.166844	0.254502007397856	0.52906	3.462375	0.999858228876689	0.44174	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.58	4.57	0.55860	4.727000	0.61687	4.276000	0.42864	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0721:0.0:0.7848:0.143	9.374	0.37433	982	0.03397	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1486.11	35	chr22	17689010	.	G	A	1486.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.699;DP=804;ExcessHet=0.1072;FS=3.136;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.77;ReadPosRankSum=0.749;SOR=0.441	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1080	19	0	2	0
chr22	17817512	17817512	C	T	exonic	MICAL3	.	nonsynonymous SNV	MICAL3:NM_015241:exon26:c.G5149A:p.E1717K,	.	.	425	1080	17	0	0	17	0.00780891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.76	P	0.026	B	0.012	N	1.000	D	0.895	L	-0.25	T	-0.925	T	0.118	T	0.258	2.851	15.50	3.64	1.180	5.621	12.733	0.115	0.0428163544247	0.0013	0.000199681	0.0009	0.0003	0.0005	0.0002	0	0.0012	0	0.0012	0.0009444	146	154602	rs200164491	0.0014	0.0014	0.0014	0.0014	0.0038	0.0014	0.0013	0.0026	0.0022	0.0002	0.0011	3.827e-05	0.0001	9.404e-05	0.0038	0.0016	0.0017	0.0015	0.0010	0.0010	0.0010	0.0011	0.0017	0.0009	0.0009	0.0013	0.0012	0.0004	0	0.0016	0	0.0004	0	0.0034	0.0015	0.0024	0.0017	0.011	0.55530	D	0.176	0.29843	T	0.76	0.43524	P	0.026	0.20792	B	0.012419	0.29184	N	0.361737	0.83948	0.28651	N	1.795	0.47270	L	-0.25	0.67011	T	-1.86	0.43524	N	0.229	0.25745	-0.9247	0.44901	T	0.118	0.41407	T	10	0.023452848	0.00614	T	0.042816	0.60661	D	0.115	0.32236	.	.	0.123314135267	0.11883	0.15541836636807116	0.15462	0.340254847431	0.35964	0.510360002518	0.40273	T	0.015462	0.12966	T	-0.358561	0.04212	T	-0.301055	0.44614	T	0.0615060188865142	0.07403	T	0.877312	0.59062	D	0.03491266	0.04010	0.07225013	0.15564	0.03491266	0.04010	0.07225013	0.15564	-5.826	0.44800	T	.	.	0.159	0.35162	B	.	.	3.326268	0.45769	22.2	0.99839761623429113	0.92057	0.96840	0.71224	D	AEFBI	0.695801	0.65435	D	-0.198065666372525	0.33213	1.881865	-0.125928761184253	0.34348	1.974759	0.999138840032575	0.38535	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	4.65	3.64	0.40864	5.854000	0.69242	5.771000	0.49743	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.505000	0.29129	0.0:0.9206:0.0:0.0794	12.733	0.56581	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1373.98	60	chr22	17817512	.	C	T	1373.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.073;DP=1040;ExcessHet=0.0000;FS=2.496;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=-2.280e-01;SOR=0.981	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1095	20	0	1	0
chr22	18607171	18607171	C	T	exonic	RIMBP3	.	nonsynonymous SNV	RIMBP3:NM_015672:exon1:c.G4264A:p.E1422K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.002	B	0.003	B	0.001	N	1.000	N	0.145	N	2.29	T	-1.012	T	0.024	T	0.111	0.056	4.306	0.895	0.115	-0.659	6.271	0.013	0.00187831387551	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.156e-07	1.374e-06	0	1.445e-06	2.688e-05	0	0	.	.	0	0	0	2.688e-05	0	0	0	0	0	0	6.676e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.812	0.03921	T	.	.	.	.	.	.	0.000866	0.00701	N	3.600910	1	0.08975	N	0.58	0.15352	N	.	.	.	.	.	.	0.162	0.17002	-1.0121	0.26259	T	0.024	0.10103	T	10	0.066018134	0.08994	T	0.001878	0.03299	T	.	.	.	.	0.0297737177859	0.01360	0.25057760538401175	0.24971	.	.	0.417588680983	0.27505	T	0.001426	0.00883	T	-0.307563	0.07964	T	-0.67957	0.07010	T	0.0884118601679802	0.11027	T	0.489851	0.15048	T	0.020905292	0.00667	0.040225882	0.04299	0.020905292	0.00666	0.040225882	0.04299	-3.48	0.16153	T	.	.	0.074	0.05017	B	.	.	-0.171186	0.03241	0.546	0.5992992864663651	0.06341	0.03229	0.08242	N	AEFI	0.042580	0.06624	N	-1.51433633603884	0.01755	0.07685525	-1.5173685805667	0.02211	0.1013159	1.43440933080779E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.09	0.895	0.18380	-1.745000	0.01930	-0.750000	0.07581	-0.756000	0.03544	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.7375:0.0:0.2625	6.271	0.20163	866	0.32446	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	472.33	33	chr22	18607171	.	C	T	472.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-5.730e-01;DP=753;ExcessHet=0.0000;FS=2.184;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=33.52;MQRankSum=0.657;QD=5.49;ReadPosRankSum=1.76;SOR=0.436	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1355	19	0	1	1
chr22	18608148	18608148	C	T	exonic	RIMBP3	.	nonsynonymous SNV	RIMBP3:NM_015672:exon1:c.G3287A:p.R1096H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.003	B	0.001	B	0.311	N	0.994	N	-0.41	N	1.53	T	-0.979	T	0.026	T	0.101	-0.946	0.349	-0.716	-0.321	-0.811	7.837	0.005	0.00264991276271	.	0.000199681	0.0003	0	0	0	0	0.0003	0	0.0005	3.84e-05	1	26028	rs539354043	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0	7.659e-05	0.0002	0.0002	0.0001	9.988e-05	0.0002	9.915e-05	0.0001	9.038e-05	0.0001	0.0002	6.042e-05	4.908e-05	5.883e-05	4.269e-05	2.406e-05	0	0.0002	0	0	9.413e-05	0	0.0001	0.0005	0.0002	.	.	.	0.614	0.07592	T	.	.	.	.	.	.	0.310805	0.14437	N	0.676525	0.993673	0.23669	N	-0.6	0.02229	N	.	.	.	.	.	.	0.056	0.02759	-0.9793	0.35162	T	0.026	0.11353	T	10	0.012682825	0.00272	T	0.00265	0.05406	T	.	.	.	.	0.101711395817	0.09552	0.27667976117611026	0.27580	.	.	0.515598058701	0.41007	T	0.001152	0.00660	T	-0.537961	0.00345	T	-0.707391	0.05431	T	0.00705756060779095	0.00080	T	0.333267	0.07048	T	0.027892148	0.02046	0.032174613	0.01913	0.027892148	0.02046	0.032174613	0.01913	-2.53	0.05990	T	.	.	0.083	0.09045	B	.	.	0.064385	0.04743	1.370	0.75520030019856155	0.11107	0.01666	0.05334	N	AEFDBI	0.036407	0.04845	N	-1.51202757115493	0.01770	0.07753528	-1.45510153314119	0.02724	0.1258216	1.23710789104603E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.42	-0.716	0.10647	-0.312000	0.08153	-3.610000	0.02659	-0.761000	0.03509	0.014000	0.18986	0.000000	0.08366	0.584000	0.30992	0.0:0.3554:0.0:0.6446	7.837	0.28537	866	0.32446	Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1652.98	37	chr22	18608148	.	C	T	1652.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.122e+00;DP=1969;ExcessHet=0.0000;FS=0.660;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=41.33;MQRankSum=0.638;QD=3.17;ReadPosRankSum=0.794;SOR=0.606	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr22	18608541	18608541	G	A	exonic	RIMBP3	.	nonsynonymous SNV	RIMBP3:NM_015672:exon1:c.C2894T:p.T965M,	.	.	471	1050	1	0	0	1	0.000475964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.006	B	0.003	B	0.890	N	1.000	N	1.625	L	2.05	T	-0.981	T	0.036	T	0.06	0.403	6.190	-5.95	-1.563	-0.811	2.800	0.014	0.0100661654566	.	.	0.0006	0.0016	0	0	0	0.0006	0	0.0004	3.84e-05	1	26028	rs772399635	0.0001	0.0002	0.0001	0.0001	0.0011	0.0001	9.853e-05	0.0009	0.0008	0.0011	0.0002	0	2.52e-05	1.873e-05	0	7.558e-05	0.0002	0.0003	0.0004	0.0005	0.0004	0.0003	0.0009	0.0003	0.0003	0.0007	0.0006	0.0009	0	0.0007	0	0.0004	0	0	0.0001	0	0	.	.	.	0.169	0.30534	T	.	.	.	.	.	.	0.890383	0.07291	N	1.053410	1	0.08975	N	1.435	0.35949	L	.	.	.	.	.	.	0.051	0.02272	-0.9805	0.34886	T	0.036	0.15509	T	10	0.015061766	0.00316	T	0.010066	0.26169	T	.	.	.	.	0.0297737177859	0.01360	0.5129486007430906	0.51216	.	.	0.236229866743	0.02461	T	0.021709	0.16859	T	-0.621107	0.00108	T	-0.721301	0.04733	T	0.00284151813067264	0.00030	T	0.362864	0.08399	T	0.016360903	0.00193	0.025627825	0.00614	0.016360903	0.00193	0.025627825	0.00614	-4.421	0.29840	T	.	.	0.075	0.05711	B	.	.	-0.144641	0.03384	0.607	0.53354274079819797	0.04923	0.00883	0.03481	N	AEFBI	0.042154	0.06502	N	-1.79170622409344	0.00565	0.02436591	-1.93027745447837	0.00426	0.01884654	9.27098393524536E-5	0.04910	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.14	-5.95	0.02054	-0.779000	0.04764	-0.568000	0.08441	-0.576000	0.04747	0.000000	0.06391	0.000000	0.08366	0.519000	0.29452	0.267:0.1213:0.4888:0.1229	2.800	0.05078	866	0.32446	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	79.98	121	chr22	18608541	.	G	A	79.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=1315;ExcessHet=0.0000;FS=0.833;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=36.56;MQRankSum=-2.814e+00;QD=0.40;ReadPosRankSum=1.12;SOR=0.804	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	20	0	1	0
chr22	18608797	18608797	C	-	exonic	RIMBP3	.	frameshift deletion	RIMBP3:NM_015672:exon1:c.2638delG:p.E880Sfs*77,	.	.	416	1103	3	0	0	3	0.00135808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-06	2.736e-06	0	2.756e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1447.94	36	chr22	18608796	.	TC	T	1447.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.890e-01;DP=1159;ExcessHet=0.0000;FS=3.545;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.71;MQRankSum=-4.216e+00;QD=4.01;ReadPosRankSum=-1.060e-01;SOR=0.593	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	20	0	1	0
chr22	18609742	18609742	C	T	exonic	RIMBP3	.	nonsynonymous SNV	RIMBP3:NM_015672:exon1:c.G1693A:p.E565K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.421	B	0.154	B	0.497	N	1.000	N	1.79	L	2.23	T	-0.991	T	0.043	T	0.123	1.145	9.663	1.56	0.639	0.088	3.531	0.021	0.0048107443556	.	.	.	.	.	.	.	.	.	.	5.17e-05	8	154602	rs1165217004	0.0027	0.0036	0.0028	0.0026	0.0031	0.0026	0.0026	0.0029	0.0029	0.0004	0.0031	0.0005	0	0.0044	0.0010	0.0030	0.0023	0.0004	0.0021	0.0029	0.0020	0.0022	0.0045	0.0019	0.0018	0.0037	0.0034	0.0005	0	0.0045	0.0006	0	0.0038	0	0.0025	0.0052	0.0002	.	.	.	0.14	0.33554	T	.	.	.	.	.	.	0.496902	0.05069	N	1.331580	0.999999	0.08975	N	1.59	0.40313	L	.	.	.	.	.	.	0.103	0.08646	-0.9912	0.32295	T	0.043	0.18326	T	10	0.025805295	0.00764	T	0.004811	0.12035	T	.	.	.	.	0.0611884634855	0.05136	0.12239925407263885	0.12166	.	.	0.776194453239	0.78353	T	0.005727	0.05178	T	-0.24639	0.14545	T	-0.591699	0.13519	T	0.00940495459558463	0.00120	T	0.536546	0.18022	T	0.027816692	0.02027	0.04319381	0.05317	0.027816692	0.02027	0.04319381	0.05317	-5.611	0.42892	T	.	.	0.151	0.33481	B	.	.	1.553386	0.19905	14.50	0.99577941395607461	0.72802	0.01740	0.05491	N	AEFBCI	0.032871	0.03794	N	-0.664091061873501	0.17050	0.8741288	-0.80343147380004	0.14413	0.7529249	0.0826621121700104	0.15906	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.61	1.56	0.22423	0.652000	0.24573	1.567000	0.27393	0.274000	0.18563	0.000000	0.06391	0.002000	0.18203	0.110000	0.18741	0.0:0.5678:0.2676:0.1646	3.531	0.07335	856	0.34373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	104.98	30	chr22	18609742	.	C	T	104.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.00;DP=548;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=33.45;MQRankSum=1.54;QD=2.92;ReadPosRankSum=0.440;SOR=0.954	GT:AD:DP:GQ:PL	0/0:17,0:17:45:0,45,675	20	0	1	0
chr22	18910907	18910907	G	A	exonic	DGCR6;LOC102724770	.	nonsynonymous SNV	LOC102724770:NM_001368242:exon4:c.G392A:p.R131H	.	.	390	1113	19	0	0	19	0.00846325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.007	B	0.003	B	0.002	N	1.000	N	1.935	M	1.37	T	-0.987	T	0.082	T	0.124	1.101	9.492	3.3	1.196	1.103	7.057	0.056	0.0105053527987	0.0027	0.00199681	0.0030	0.0009	0.0009	0	0.0003	0.0030	0.0012	0.0085	0.0028913	447	154602	rs146390355	0	1.404e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	7.751e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.098	0.30800	T	0.08	0.41913	T	0.007	0.14184	B	0.003	0.08700	B	0.001677	0.38326	N	0.191517	1	0.81001	D	1.18	0.29980	L	1.37	0.34253	T	-1.11	0.28703	N	0.259	0.29313	-0.9872	0.33298	T	0.082	0.32207	T	10	0.009690225	0.00218	T	0.010505	0.27109	T	0.056	0.15993	.	.	0.327419511103	0.32360	0.31422203859618847	0.31335	0.12429683606	0.13995	0.308053433895	0.11613	T	0.027211	0.19978	T	-0.582909	0.00185	T	-0.605379	0.12364	T	0.00409035813683274	0.00043	T	0.746025	0.36642	T	0.078310326	0.17826	0.038941365	0.03875	0.078310326	0.17826	0.038941365	0.03875	-5.936	0.45741	T	.	.	0.086	0.16099	B	.;.	.;.	2.713271	0.35474	19.91	0.98955440178866994	0.49227	0.33121	0.24751	N	AEFDGBCI	0.414293	0.48362	N	-0.679744952707117	0.16601	0.8471877	-0.651862005858927	0.18170	0.9694404	0.0834855360864476	0.15929	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	4.31	3.3	0.36912	0.303000	0.18965	2.177000	0.31099	-0.750000	0.03597	0.000000	0.06391	0.992000	0.31684	0.147000	0.20199	0.2057:0.0:0.7943:0.0	7.057	0.24285	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1496.98	36	chr22	18910907	.	G	A	1496.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.63;DP=811;ExcessHet=0.0000;FS=1.557;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.99;MQRankSum=-1.387e+00;QD=13.02;ReadPosRankSum=-5.090e-01;SOR=0.924	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1325	20	0	1	0
chr22	18922842	18922842	G	T	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon6:c.C500A:p.T167N	.	.	1	1438	83	0	0	83	0.02805	.	.	1159078	not_provided|Proline_dehydrogenase_deficiency	MedGen:C3661900|MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.5	T	0.408	B	0.198	B	0.065	N	1.000	P	1.265	L	1.49	T	-1.014	T	0.000	T	0.222	0.608	7.274	0.756	0.320	-0.022	6.269	0.021	.	0.0333	0.0720847	0.0579	0.0104	0.1609	0.1818	0.0085	0.0437	0.0444	0.0283	0.0576771	8917	154602	rs5747933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.604	0.07354	T	0.544	0.14961	T	0.372	0.34134	B	0.175	0.35598	B	0.065048	0.21909	N	0.496209	1	0.08975	P	.	.	.	1.43	0.32958	T	-0.27	0.12847	N	0.189	0.22998	-1.0145	0.25497	T	0.000	0.00039	T	9	0.0017009974	0.00021	T	.	.	.	0.021	0.04004	.	.	.	.	0.4946535748930686	0.49386	0.331359197874	0.35213	0.406710684299	0.26002	T	0.011657	0.16015	T	-0.651722	0.00071	T	-0.56511	0.15900	T	0.00372201777991252	0.00039	T	0.756224	0.37950	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.38444	B	.;.;.;.;.	.;.;.;.;.	0.135227	0.05303	1.794	0.91944369770692291	0.21271	0.02689	0.07326	N	AEFBI	0.081638	0.16523	N	-0.749487469426016	0.14647	0.731409	-0.754882130175184	0.15603	0.821413	0.792135918401755	0.24033	0.67177	0.52595	0	0.610034	0.51514	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	4.18	0.756	0.17569	-0.000000	0.12910	-0.138000	0.11547	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.093000	0.17941	0.3838:0.0:0.6162:0.0	6.269	0.20150	929	0.16858	Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.02381	1087.98	45	chr22	18922842	.	G	T	1087.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.544;DP=1265;ExcessHet=0.0000;FS=0.729;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.36;ReadPosRankSum=0.617;SOR=0.784	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	20	0	1	0
chr22	18925164	18925164	C	T	exonic	LOC102724788;PRODH	.	stopgain	PRODH:NM_001195226:exon4:c.G230A:p.W77X	.	.	0	1384	130	8	0	146	0.050103	.	.	469889	Schizophrenia_4|Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0010943,MedGen:C1833247,OMIM:600850|MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	0.094	N	0.000	P	.	.	.	.	.	.	.	.	.	1.645	11.46	-6.11	-1.080	-0.210	6.835	.	.	0.0583	0.0563099	0.0400	0.1047	0.0288	0.0276	0.0293	0.0383	0.0453	0.0242	0.0379426	5866	154602	rs11913840	3.785e-05	0.0004	0	6.825e-05	7.066e-05	0	0	.	.	0	0	0	0	0	0	7.066e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094139	0.20188	N	0.520350	1.46935e-18	0.81001	P	.	.	.	.	.	.	.	.	.	0.579	0.60749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.239079	0.15466	T	-0.0293432	0.68412	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Tolerant;.	.;.;.;High;.	3.880428	0.56390	23.7	0.88814784672952418	0.18278	0.05045	0.10832	N	AEFDBI	0.367121	0.45469	N	-0.29800949331419	0.29226	1.618826	-0.742117687753555	0.15916	0.8394609	0.999810399753712	0.43459	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	-6.11	0.01950	-0.056000	0.11744	-3.174000	0.02998	0.525000	0.24333	0.001000	0.13787	0.000000	0.08366	0.057000	0.15750	0.1017:0.1914:0.564:0.1429	6.835	0.23113	929	0.16858	.;.;.;.;.	.	.	.	.	rs11913840	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.04762	4302.11	34	chr22	18925164	.	C	T	4302.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.77;DP=976;ExcessHet=0.1072;FS=3.156;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.29;ReadPosRankSum=0.777;SOR=0.536	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1393	19	0	2	0
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R	.	.	0	170	630	722	0	2074	0.859155	.	.	1159081	Proline_dehydrogenase_deficiency	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.0	B	0.094	N	0.999	P	.	.	-0.92	T	-0.991	T	0.000	T	0.068	-1.216	0.065	2.88	0.250	3.683	6.438	0.076	.	0.6739	0.78095	0.6417	0.8658	0.6056	0.9683	0.4835	0.5769	0.6024	0.6814	0.02359	614	26028	rs386819653	0.0003	0.0047	0.0004	0.0002	0.0023	0.0002	0.0001	0.0006	0.0003	0	0.0023	0	0	0	0	0.0004	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.503	0.07670	T	0.534	0.09965	T	0.0	0.02946	B	0.0	0.01387	B	0.094139	0.20188	N	0.520350	0.999439	0.21199	P	.	.	.	-0.92	0.75108	T	3.71	0.00075	N	0.033	0.01068	-0.9908	0.32398	T	0.000	0.00011	T	8	1.1503014e-06	0.00003	T	.	.	.	0.124	0.34239	0.323	0.30387	.	.	0.36059814543275515	0.35973	0.483945717353	0.47326	0.248760938644	0.03638	T	0.002583	0.06018	T	-0.601222	0.00143	T	-0.49257	0.23121	T	0.00184463573786778	0.00019	T	0.00685721	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00015	B	.;.;.;.;.	.;.;.;.;.	0.485323	0.08545	5.311	0.22177376406136032	0.00880	0.05952	0.11910	N	AEFDBI	0.024100	0.01439	N	-0.980425259653166	0.09021	0.425321	-0.911628502467974	0.11819	0.6044718	0.999452624102034	0.39788	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	2.88	0.32617	3.825000	0.55430	1.457000	0.26651	-2.966000	0.00148	0.770000	0.29357	0.835000	0.27248	0.022000	0.11911	0.1618:0.0:0.6925:0.1458	6.438	0.21037	929	0.16858	.;.;.;.;.	.	.	.	.	rs4819756	Benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.6905	64105.31	193	chr22	18925165	.	A	G	64105.31	.	AC=29;AF=0.690;AN=42;BaseQRankSum=-1.553e+00;DP=3080;ExcessHet=0.2231;FS=0.000;InbreedingCoeff=0.2202;MLEAC=29;MLEAF=0.690;MQ=60.00;MQRankSum=0.00;QD=22.15;ReadPosRankSum=0.574;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:85,78:163:99:.:.:1852,0,2199	3	11	7	0
chr22	18936116	18936116	C	T	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	LOC102724788:NM_001368249:exon1:c.G172A:p.A58T	.	.	24	1429	63	6	0	75	0.0255711	.	.	470907	not_provided|Proline_dehydrogenase_deficiency	MedGen:C3661900|MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.004	N	0.000	P	-0.925	N	1.87	T	-1.030	T	0.000	T	0.022	1.253	10.08	-4.35	-0.476	-1.355	2.731	0.015	.	0.0178	0.0297524	0.0113	0.0437	0.0270	0	.	0.0276	0.0521	0.0047	0.0057955	896	154602	rs146648839	.	0.0005	.	.	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	.	.	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.004238	0.33968	N	0.182978	0.998905	0.58761	P	.	.	.	1.87	0.24085	T	0.13	0.05503	N	0.017	0.00226	-1.0297	0.20551	T	0.000	0.00152	T	9	0.0018523335	0.00025	T	.	.	.	0.015	0.02232	.	.	.	.	0.19949824960512247	0.19866	0.267482903043	0.29292	0.879037797451	0.93830	D	0.001812	0.01233	T	-0.760368	0.00015	T	-0.81943	0.01464	T	0.00535536718093038	0.00058	T	0.640736	0.25328	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05017	B	.;.	.;.	-0.781814	0.01143	0.053	0.96452116232186036	0.29869	0.03046	0.07940	N	AEFDBHCI	0.057252	0.10648	N	-1.61886401112635	0.01173	0.05099661	-1.5572768422115	0.01926	0.08788814	0.999999863836608	0.74766	0.441713	0.08003	0	0.514364	0.08380	0	0.52208	0.10781	0	0.554799	0.18163	0	.	.	2.4	-4.35	0.03402	-1.259000	0.02970	-4.364000	0.02195	-0.634000	0.04471	0.058000	0.21700	0.000000	0.08366	0.092000	0.17891	0.3523:0.232:0.0:0.4157	2.731	0.04906	929	0.16858	.;.	.	.	.	.	rs146648839	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2042.98	36	chr22	18936116	.	C	T	2042.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.419;DP=941;ExcessHet=0.0000;FS=1.804;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.93;MQRankSum=-1.449e+00;QD=11.04;ReadPosRankSum=0.838;SOR=0.644	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,107,1470	20	0	1	0
chr22	19150069	19150069	G	C	exonic	GSC2	.	nonsynonymous SNV	GSC2:NM_005315:exon1:c.C215G:p.P72R,	.	.	.	.	.	.	.	.	.	.	.	3259038	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.22	T	0.718	P	0.218	B	0.155	U	0.998	N	0.55	N	-2.89	D	-0.308	T	0.537	D	0.189	0.905	8.679	2.58	1.637	0.923	13.317	0.179	0.937633263844	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1351939545	2.345e-05	1.779e-05	1.97e-05	2.778e-05	0.0006	1.531e-05	1.245e-05	1.162e-05	9.21e-06	0	0	0	0	0	0.0006	1.936e-05	0.0001	0	4.77e-05	4.654e-05	6.633e-05	2.802e-05	9.098e-05	2.18e-05	1.572e-05	3.961e-05	2.64e-05	0	0	0	0	0	0	0	9.098e-05	0.0005	0	0.047	0.40319	D	0.042	0.50226	D	0.718	0.42284	P	0.218	0.37679	B	0.154523	0.17858	U	0.504809	0.997939	0.22436	N	0.895	0.22405	L	-2.89	0.91589	D	-1.98	0.45769	N	0.165	0.17416	-0.3084	0.74750	T	0.537	0.82878	D	10	0.35752022	0.52466	T	0.937633	0.99555	D	0.179	0.44899	0.259	0.20159	0.419090007872	0.41522	0.22281926236114907	0.22196	0.489309031724	0.47699	0.872659862041	0.92946	D	0.336067	0.70562	T	-0.0161313	0.49402	T	-0.260948	0.48729	T	0.261696428060532	0.23389	T	0.337066	0.07215	T	0.14334714	0.32949	0.2538306	0.51037	0.14334714	0.32949	0.2538306	0.51036	-4.241	0.27341	T	.	.	0.087	0.11172	B	.	.	1.381924	0.17934	13.45	0.94662712131524229	0.25280	0.10502	0.15991	N	AEFBCI	0.022707	0.01168	N	-0.617445587418041	0.18420	0.9561821	-0.690592443462068	0.17195	0.9132325	0.388009093489087	0.20020	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	3.75	2.58	0.30011	2.967000	0.48908	3.347000	0.37754	0.315000	0.19243	0.991000	0.37257	0.989000	0.31174	0.067000	0.16453	0.0:0.0:0.8297:0.1703	13.317	0.59851	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	67.3	3	chr22	19150069	.	G	C	67.3	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.310e-01;DP=170;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0434;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.43;ReadPosRankSum=0.00;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:5,0:5:12:.:.:0,12,180	20	0	1	0
chr22	19150076	19150076	-	GCAGCA	exonic	GSC2	.	nonframeshift insertion	GSC2:NM_005315:exon1:c.207_208insTGCTGC:p.C70_G71insCC,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	116.43	3	chr22	19150073	.	CGCA	CGCAGCAGCA,C	116.43	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.00;DP=186;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0625;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=9.70;ReadPosRankSum=1.38;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:5,0,0:5:12:.:.:0,12,180,12,180,180	19	0	1	0
chr22	19150074	19150076	GCA	-	exonic	GSC2	.	nonframeshift deletion	GSC2:NM_005315:exon1:c.208_210del:p.C70del,	.	.	523	992	7	0	0	7	0.00351582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1349295016	0.0003	0.0037	0.0003	0.0003	0.0022	0.0003	0.0003	0.0012	0.0009	0.0004	0.0006	0.0005	0.0022	0.0069	0	0.0003	0.0002	5.793e-05	2.726e-05	0.0002	2.656e-05	2.799e-05	3.034e-05	8.37e-06	5.29e-06	5.03e-06	1.88e-06	0	0	0	0	0	0.0001	0.0034	3.034e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	116.43	3	chr22	19150073	.	CGCA	CGCAGCAGCA,C	116.43	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.00;DP=186;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0625;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=9.70;ReadPosRankSum=1.38;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:5,0,0:5:12:.:.:0,12,180,12,180,180	19	0	1	0
chr22	19178029	19178029	C	T	exonic	SLC25A1	.	nonsynonymous SNV	SLC25A1:NM_001256534:exon2:c.G236A:p.R79Q	Combined D-2- and L-2-hydroxyglutaric aciduria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.131	B	0.045	B	0.002	N	1.000	D	1.275	L	-1.37	T	-0.809	T	0.288	T	0.194	2.678	14.92	-0.682	0.098	0.697	7.969	0.147	0.164623945449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.388e-06	3.42e-06	1.378e-06	1.398e-06	1.201e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.055e-07	0	1.201e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.28148	T	0.238	0.24549	T	0.131	0.27154	B	0.045	0.24526	B	0.001553	0.38671	N	0.248977	0.963153	0.81001	D	1.29	0.32370	L	-1.37	0.80214	T	-0.62	0.18248	N	0.119	0.10911	-0.8090	0.54611	T	0.288	0.66007	T	10	0.19448614	0.35261	T	0.164624	0.84369	D	0.147	0.38986	0.575	0.69957	0.255117706274	0.25116	0.5103523338446886	0.50957	0.567699286432	0.53019	0.452385812998	0.32270	T	0.272779	0.64519	T	-0.0669427	0.41814	T	-0.333935	0.41029	T	0.549359381198883	0.34453	D	0.885611	0.61095	D	0.10942417	0.25869	0.072989725	0.15810	0.10942417	0.25869	0.072989725	0.15809	-8.295	0.63062	D	0.13492386758573732	0.14620	0.098	0.16275	B	.	.	3.588058	0.50618	23.0	0.99419087124651628	0.63694	0.29163	0.23749	N	AEFDBHCI	0.246193	0.36699	N	-0.509108225755646	0.21784	1.158663	-0.468046396502609	0.23040	1.254407	0.999999989990471	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.638787	0.57140	0	.	.	4.51	-0.682	0.10769	0.528000	0.22711	0.988000	0.23172	-0.236000	0.07595	0.992000	0.37556	0.898000	0.27928	0.745000	0.35611	0.0:0.4746:0.0:0.5254	7.969	0.29281	755	0.51144	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	358.98	31	chr22	19178029	.	C	T	358.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.37;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.58;ReadPosRankSum=-2.840e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1167	20	0	1	0
chr22	19196300	19196300	-	AGG	exonic	CLTCL1	.	nonframeshift insertion	CLTCL1:NM_001835:exon26:c.4156_4157insCCT:p.A1385_W1386insS	.	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3e-05	.	2.494e-05	0	0	0	0	4.516e-05	0	0	.	.	.	rs782104259	1.505e-05	1.505e-05	9.53e-06	2.063e-05	0.0002	9.85e-06	8.42e-06	1.093e-05	8.81e-06	0	0	0	0	0	0.0002	1.709e-05	3.313e-05	0	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1700.94	37	chr22	19196300	.	C	CAGG	1700.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.133;DP=925;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.51;ReadPosRankSum=0.609;SOR=0.746	GT:AD:DP:GQ:PL	0/1:58,45:103:99:1715,0,2293	20	0	1	0
chr22	19199816	19199816	T	C	exonic	CLTCL1	.	nonsynonymous SNV	CLTCL1:NM_001835:exon24:c.A3791G:p.Q1264R	.	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.005	B	0.013	B	0.001	D	0.998	N	0.345	N	2.12	T	-1.042	T	0.026	T	0.111	0.736	7.911	3.85	1.588	2.150	5.693	0.032	0.00222175952306	0.0002	.	9.791e-05	0.0002	0	0	0	0.0001	0	0.0001	3.23e-05	5	154602	rs367793842	2.424e-05	2.531e-05	2.336e-05	2.513e-05	0.0003	1.76e-05	1.558e-05	6.107e-05	2.527e-05	0	0	0	0	0	0.0003	2.356e-05	5.013e-05	4.841e-05	3.285e-05	3.283e-05	5.137e-05	1.345e-05	4.409e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	2.412e-05	0	0	0	0	0	0	4.409e-05	0.0005	0	0.089	0.32141	T	0.165	0.31026	T	0.0	0.02946	B	0.001	0.11217	B	0.000970	0.40836	D	0.187714	0.997783	0.22508	N	0.395	0.12235	N	2.12	0.19726	T	-0.18	0.09796	N	0.211	0.24758	-1.0423	0.16621	T	0.026	0.11131	T	10	0.11344987	0.21313	T	0.002222	0.04206	T	0.032	0.07718	.	.	0.300110245524	0.29617	0.15782156336329756	0.15703	.	.	0.308885157108	0.11739	T	0.031146	0.21906	T	-0.370961	0.03545	T	-0.620343	0.11158	T	0.0669005115026013	0.08209	T	0.805019	0.45619	T	0.0387843	0.05234	0.048736688	0.07301	0.0387843	0.05234	0.048736688	0.07300	-3.667	0.29037	T	0.09426400578020667	0.06290	0.064	0.02458	B	.;.;.;.	.;.;.;.	1.426358	0.18436	13.74	0.97623718490452205	0.34977	0.89192	0.49510	D	AEFBI	0.065904	0.12879	N	-0.476707977124177	0.22846	1.22273	-0.355865444804522	0.26328	1.453505	0.979898118320734	0.30076	0.736574	0.97449	0	0.59043	0.45803	0	0.732669	0.93749	0	0.655142	0.61905	0	.	.	3.85	3.85	0.43556	2.269000	0.43005	1.374000	0.25980	0.609000	0.47794	0.996000	0.39380	0.038000	0.21505	0.078000	0.17132	0.0:0.0928:0.1703:0.7368	5.693	0.17110	758	0.50837	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	986.98	35	chr22	19199816	.	T	C	986.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.075e+00;DP=790;ExcessHet=0.0000;FS=6.605;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.50;ReadPosRankSum=2.06;SOR=1.187	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1260	20	0	1	0
chr22	19209093	19209093	T	G	exonic	CLTCL1	.	nonsynonymous SNV	CLTCL1:NM_001835:exon21:c.A3271C:p.N1091H	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	3.085	M	2.08	T	-0.666	T	0.172	T	0.274	3.215	16.77	4.0	1.664	7.166	13.075	0.284	0.00619742318536	.	.	0.0001	0	0.0007	0	0	7.631e-05	0	0.0002	7.12e-05	11	154602	rs782013809	4.264e-05	4.378e-05	3.554e-05	4.982e-05	0.0004	3.394e-05	3.081e-05	0.0002	0.0002	0	0.0004	0.0008	0	0	0.0002	1.444e-05	4.992e-05	7.076e-05	7.227e-05	7.223e-05	7.709e-05	6.724e-05	0.0002	3.971e-05	3.127e-05	1.171e-05	6.25e-06	0	0	6.544e-05	0.0017	0	0	0	4.409e-05	0	0.0002	0.004	0.65419	D	0.008	0.67890	D	0.999	0.90584	D	0.989	0.97372	D	0.000055	0.53742	D	0.121855	1	0.81001	D	3.09	0.87444	M	2.08	0.20255	T	-3.02	0.62630	D	0.681	0.68777	-0.6662	0.62000	T	0.172	0.51468	T	10	0.59089327	0.66374	D	0.006197	0.16259	T	0.284	0.60219	0.666	0.80401	0.512998934155	0.50940	0.6248625478622631	0.62419	.	.	0.512698054314	0.40600	T	0.222285	0.58609	T	-0.329388	0.06158	T	-0.372527	0.36594	T	0.709082067012787	0.41155	D	0.976302	0.91743	D	0.3884883	0.59924	0.31088436	0.57097	0.3884883	0.59924	0.31088436	0.57097	-10.271	0.75519	D	0.3442378810320925	0.44181	0.116	0.23465	B	.;.	.;.	3.331545	0.45867	22.2	0.99652980967967508	0.77442	0.96909	0.71603	D	AEFBI	0.802415	0.72785	D	0.665161182853319	0.77354	6.658519	0.527461910315036	0.69844	5.418743	0.999999997917889	0.74766	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	4.0	4.0	0.45673	7.322000	0.78368	3.284000	0.37253	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.491000	0.28814	0.0:0.0:0.0:1.0	13.075	0.58496	763	0.50172	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1828.98	35	chr22	19209093	.	T	G	1828.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.040e+00;DP=864;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.97;ReadPosRankSum=1.54;SOR=0.716	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1250	20	0	1	0
chr22	19210438	19210438	C	T	exonic	CLTCL1	.	nonsynonymous SNV	CLTCL1:NM_001835:exon20:c.G3137A:p.R1046H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.167	B	0.125	B	0.000	N	1.000	D	3.105	M	1.87	T	-0.986	T	0.096	T	0.59	3.037	16.13	1.66	0.289	4.175	9.768	0.177	0.00472832895617	.	0.000199681	2.485e-05	0	8.651e-05	0	0	0	0	0.0001	2.59e-05	4	154602	rs191966359	6.841e-06	6.84e-06	6.807e-06	6.876e-06	0.0002	3.46e-06	2.52e-06	9.89e-06	4.56e-06	5.974e-05	0	0	2.519e-05	0	0.0002	1.799e-06	1.656e-05	3.478e-05	1.313e-05	1.312e-05	2.57e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	6.538e-05	0	0.0002	0	0	0	0	0	0.021	0.49117	D	0.041	0.50514	D	0.167	0.28604	B	0.125	0.32635	B	0.000038	0.55875	N	0.070633	0.999941	0.51968	D	3.57	0.93460	H	1.87	0.24085	T	-4.05	0.74504	D	0.447	0.48504	-0.9858	0.33639	T	0.096	0.36185	T	10	0.14775497	0.27992	T	0.004728	0.11784	T	0.177	0.44549	.	.	0.36355261348	0.35965	0.49583971540449673	0.49504	.	.	0.350429713726	0.17985	T	0.263487	0.63518	T	-0.15124	0.28119	T	-0.273495	0.47466	T	0.859810888767242	0.51033	D	0.924208	0.72277	D	0.1695623	0.37480	0.14336368	0.34073	0.1695623	0.37480	0.14336368	0.34072	-8.529	0.66296	D	0.8082558539851691	0.88371	0.069	0.03231	B	.;.	.;.	2.815862	0.37082	20.4	0.9978626554032094	0.87219	0.80952	0.40462	D	AEFBHI	0.421201	0.48772	N	-0.0726844237330039	0.38594	2.26278	-0.0900721905978214	0.35799	2.075505	0.999889984944582	0.44867	0.661447	0.50134	0	0.563428	0.19063	0	0.644132	0.48003	0	0.635551	0.53088	0	.	.	3.81	1.66	0.23081	4.391000	0.59415	-0.139000	0.11537	0.599000	0.40250	1.000000	0.71638	0.024000	0.20971	0.693000	0.33928	0.0:0.8273:0.0:0.1727	9.768	0.39737	763	0.50172	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1036.98	35	chr22	19210438	.	C	T	1036.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.90;DP=1108;ExcessHet=0.0000;FS=0.754;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=-1.820e+00;SOR=0.812	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr22	19275743	19275743	C	A	exonic	CLTCL1	.	nonsynonymous SNV	CLTCL1:NM_001835:exon2:c.G130T:p.V44F	.	.	419	1007	92	4	0	100	0.0473037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.964	D	0.924	D	0.000	D	0.999	D	2.91	M	0.98	T	-0.753	T	0.181	T	0.47	2.600	14.65	1.93	0.367	3.255	8.231	0.186	.	0.0060	0.00898562	0.0146	0.0007	0.0087	0	0.0031	0.0116	0.0220	0.0497	0.0099675	1541	154602	rs34869740	0.0080	0.0080	0.0068	0.0092	0.0392	0.0078	0.0078	0.0381	0.0376	0.0008	0.0048	0.0224	2.524e-05	0.0020	0.0312	0.0060	0.0091	0.0392	0.0063	0.0063	0.0061	0.0065	0.0357	0.0059	0.0058	0.0313	0.0296	0.0012	0.0110	0.0042	0.0274	0.0004	0.0015	0.0238	0.0076	0.0133	0.0357	0.035	0.52492	D	0.043	0.64786	D	0.177	0.55854	B	0.325	0.65913	B	0.000108	0.50451	D	0.078972	0.998752	0.45389	D	3.3	0.90472	M	0.98	0.42122	T	-2.53	0.66085	D	0.348	0.38950	-0.7526	0.57799	T	0.181	0.52798	T	10	0.0042898357	0.00086	T	.	.	.	0.186	0.46104	.	.	.	.	0.5550606857815419	0.55433	.	.	0.284310281277	0.08101	T	0.300661	0.67314	T	-0.40804	0.02048	T	-0.330329	0.41431	T	0.106590663868295	0.13067	T	0.980535	0.93576	D	0.22724117	0.45421	0.15075435	0.35541	0.14929381	0.34042	0.15075435	0.35541	-9.455	0.70579	D	0.6859370309383997	0.76300	0.171	0.53603	B	.;.;.	.;.;.	1.874624	0.23810	16.16	0.9936751865389698	0.61283	0.88714	0.48774	D	AEFDBI	0.424985	0.48993	N	-0.167350738109467	0.34498	1.969896	-0.316537505401412	0.27563	1.530398	0.999998934083076	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	4.07	1.93	0.24985	3.457000	0.52771	0.694000	0.20791	-0.804000	0.03133	1.000000	0.71638	0.809000	0.27020	0.133000	0.19684	0.1561:0.7604:0.0:0.0836	8.231	0.30759	749	0.51929	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4400.68	107	chr22	19275743	.	C	A	4400.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-7.930e-01;DP=942;ExcessHet=0.3300;FS=4.437;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=14.10;ReadPosRankSum=1.07;SOR=0.535	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1223	18	0	3	0
chr22	19479987	19479987	C	G	exonic	CDC45	.	nonsynonymous SNV	CDC45:NM_001178010:exon1:c.C19G:p.R7G	Meier-Gorlin syndrome 7, Autosomal recessive	.	422	1097	3	0	0	3	0.0013655	.	.	798053	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.955	P	0.554	P	0.000	D	1.000	D	2.31	M	1.81	T	-0.745	T	0.141	T	0.908	4.713	26.2	4.28	1.561	2.838	13.269	0.286	0.0624737005561	0.0008	0.00119808	0.0015	0.0003	0.0014	0	0.0005	0.0018	0.0022	0.0018	0.0014942	231	154602	rs147730653	0.0012	0.0012	0.0012	0.0012	0.0019	0.0011	0.0011	0.0016	0.0015	8.961e-05	0.0019	3.827e-05	0	0.0005	0.0005	0.0013	0.0010	0.0017	0.0012	0.0012	0.0011	0.0012	0.0029	0.0010	0.0010	0.0023	0.0020	0.0002	0.0077	0.0029	0	0	0.0004	0.0068	0.0015	0.0019	0.0019	0.028	0.53900	D	0.047	0.55759	D	0.881	0.48446	P	0.414	0.44907	B	0.000001	0.62929	D	0.098330	1	0.81001	D	2.81	0.81869	M	1.81	0.47477	T	-4.16	0.77881	D	0.842	0.83781	-0.7450	0.58195	T	0.141	0.46054	T	10	0.012328148	0.00265	T	0.062474	0.68663	D	0.286	0.60456	.	.	0.526437037968	0.52289	0.6790420802326358	0.67843	1.05904356239	0.76417	0.717340230942	0.69659	T	0.396885	0.75540	T	-0.0729052	0.40862	T	0.115716	0.77949	D	0.0788720697164536	0.09842	T	0.935106	0.78720	D	0.84202707	0.86753	0.71766865	0.83334	0.88631564	0.90195	0.7272498	0.83888	-10.903	0.79123	D	.	.	0.533	0.71031	A	.;.;.;.;.	.;.;.;.;.	4.657480	0.74301	26.1	0.99746332154707695	0.83927	0.67472	0.33445	D	AEFGBHCIJ	0.703920	0.65980	D	0.433117360986327	0.63252	4.555463	0.432311386879424	0.63588	4.595688	0.999999999999677	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.32	4.28	0.50183	3.265000	0.51264	7.518000	0.59719	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9201:0.0:0.0799	13.269	0.59581	547	0.72440	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	558.98	33	chr22	19479987	.	C	G	558.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.369;DP=868;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.32;ReadPosRankSum=-3.720e-01;SOR=0.638	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1255	20	0	1	0
chr22	19516590	19516590	G	A	exonic	CDC45	.	nonsynonymous SNV	CDC45:NM_001178011:exon15:c.G1366A:p.G456S	Meier-Gorlin syndrome 7, Autosomal recessive	.	431	1086	5	0	0	5	0.00229674	.	.	1901405	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.995	D	0.000	N	1.000	D	2.25	M	1.81	T	-0.906	T	0.145	T	0.313	3.764	19.11	3.2	1.230	6.404	10.961	0.295	0.038553795521	0.0002	0.000199681	0.0003	9.636e-05	0	0	0.0006	0.0002	0	0.0013	0.0002587	40	154602	rs139956849	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0002	0.0008	0.0008	2.987e-05	4.472e-05	0	2.519e-05	0.0004	0.0002	0.0001	0.0003	0.0010	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	9.238e-05	0.0004	0.0003	4.816e-05	0	6.539e-05	0	0	0.0004	0	0.0002	0	0.0010	0.012	0.54683	D	0.019	0.60337	D	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	N	0.050315	1	0.81001	D	2.91	0.84121	M	1.81	0.25182	T	-3.86	0.73893	D	0.473	0.59478	-0.9058	0.47355	T	0.145	0.46805	T	10	0.0836153	0.13928	T	0.038554	0.58293	D	0.295	0.61502	.	.	0.656001370146	0.65313	0.7486587494418944	0.74811	0.469475219527	0.46252	0.51724088192	0.41237	T	0.251709	0.62199	T	-0.361607	0.04040	T	-0.34264	0.40044	T	0.535273909568787	0.33929	D	0.89771	0.64209	D	0.47780564	0.65767	0.27336875	0.53256	0.47680616	0.65707	0.34280494	0.60000	-5.307	0.43381	T	0.4309286689160444	0.51807	0.133	0.38462	B	.;.;.;.	.;.;.;.	4.389309	0.67730	25.1	0.9979190409378782	0.87750	0.93122	0.57384	D	AEFDBHCI	0.688219	0.64930	D	0.517127105115044	0.68102	5.171278	0.42127089900502	0.62891	4.512589	0.999999970770493	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	5.29	3.2	0.35826	6.518000	0.73673	8.502000	0.77362	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.089000	0.17737	0.1514:0.0:0.8486:0.0	10.961	0.46596	697	0.58201	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1185.98	36	chr22	19516590	.	G	A	1185.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.190e-01;DP=850;ExcessHet=0.0000;FS=0.680;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.80;ReadPosRankSum=-3.650e-01;SOR=0.814	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,120,1800	20	0	1	0
chr22	19779372	19779372	G	A	exonic	TBX1	.	nonsynonymous SNV	TBX1:NM_080646:exon9:c.G1162A:p.V388M,	Conotruncal anomaly face syndrome;DiGeorge syndrome, Autosomal dominant;Tetralogy of Fallot, Autosomal dominant;Velocardiofacial syndrome, Autosomal dominant	.	0	1517	5	0	0	5	0.00164528	.	.	1287528	not_provided|TBX1-related_disorder|Cardiovascular_phenotype	MedGen:C3661900|.|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	0.524	P	0.175	B	.	.	1.000	N	0.55	N	-2.25	D	-0.697	T	0.345	T	0.103	0.988	9.035	-0.175	0.021	-0.020	2.529	0.119	0.00854705957742	7.7e-05	.	0.0001	0	0	0	0	0.0002	0.0011	0.0002	0.0001164	18	154602	rs375380772	0.0001	0.0001	0.0001	0.0001	0.0023	0.0001	0.0001	0.0013	0.0011	0	0.0004	0	0	0	0.0023	0.0001	0.0002	0.0002	0.0001	0.0002	6.422e-05	0.0002	0.0006	9.735e-05	8.25e-05	0.0003	0.0002	2.405e-05	0	0.0006	0	0	0	0.0034	0.0001	0.0009	0	0.012	0.54683	D	0.033	0.53072	D	0.524	0.37583	P	0.175	0.35598	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	-2.25	0.87272	D	0.1	0.05810	N	0.095	0.07535	-0.6974	0.60563	T	0.345	0.70988	T	9	0.05808103	0.06773	T	0.008547	0.22606	T	0.119	0.33137	.	.	0.356792473465	0.35289	.	.	.	.	.	.	.	0.151191	0.49102	T	-0.334286	0.05793	T	-0.420396	0.31031	T	0.0231154428818516	0.01037	T	0.508249	0.16142	T	0.038360257	0.05096	0.053167343	0.08904	0.038360257	0.05095	0.053167343	0.08904	-4.833	0.34973	T	.	.	0.234	0.46745	B	.	.	0.644814	0.10131	6.877	0.92250429460098726	0.21629	0.01071	0.03965	N	AEFBI	0.027994	0.02386	N	-1.03730363734572	0.07839	0.3655262	-1.1740089431019	0.06347	0.3052239	0.989351346656891	0.31799	0.497415	0.19182	0	0.547309	0.14657	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	2.06	-0.175	0.12662	0.327000	0.19408	-1.462000	0.05385	-0.132000	0.13132	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	0.1754:0.0:0.5363:0.2884	2.529	0.04413	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1888.98	37	chr22	19779372	.	G	A	1888.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.110e-01;DP=865;ExcessHet=0.0000;FS=3.554;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.10;ReadPosRankSum=0.827;SOR=0.386	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1459	20	0	1	0
chr22	19782924	19782924	G	C	exonic	TBX1	.	nonsynonymous SNV	TBX1:NM_005992:exon9:c.G1021C:p.E341Q,	Conotruncal anomaly face syndrome;DiGeorge syndrome, Autosomal dominant;Tetralogy of Fallot, Autosomal dominant;Velocardiofacial syndrome, Autosomal dominant	.	0	1518	3	1	0	5	0.0016442	.	.	3219004	TBX1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.55	T	0.001	B	0.0	B	.	.	1.000	N	0.345	N	-2.18	D	-0.855	T	0.311	T	0.038	-0.412	2.076	-0.715	-0.127	-0.276	2.746	0.138	0.0128030966149	.	0.000998403	0.0009	0	8.637e-05	0	0	1.499e-05	0	0.0067	0.0007697	119	154602	rs537289976	0.0003	0.0003	0.0002	0.0005	0.0050	0.0003	0.0003	0.0047	0.0045	0	0	0	0	0	0.0005	4.5e-06	0.0004	0.0050	9.848e-05	9.843e-05	3.854e-05	0.0002	0.0031	6.002e-05	4.876e-05	0.0019	0.0015	0	0	0	0	0	0	0	0	0	0.0031	0.507	0.07570	T	0.555	0.09267	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-2.18	0.86722	D	-0.11	0.08653	N	0.157	0.16308	-0.8547	0.51641	T	0.311	0.68157	T	9	0.0047153533	0.00099	T	0.012803	0.31686	T	0.138	0.37187	0.102	0.01589	0.686067564298	0.68338	.	.	.	.	.	.	.	.	.	.	-0.503795	0.00544	T	-0.493831	0.22990	T	0.0142595221226607	0.00283	T	0.367463	0.08589	T	.	.	.	.	.	.	.	.	-3.355	0.14457	T	.	.	0.077	0.06341	B	.	.	0.339230	0.07128	3.707	0.78389642339801169	0.12280	0.00742	0.03097	N	AEFDBI	0.031967	0.03522	N	-1.21485666918864	0.04783	0.2166413	-1.28259414915279	0.04665	0.2206016	0.990109690967433	0.32040	0.446893	0.09132	0	0.563428	0.19063	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	1.57	-0.715	0.10650	-0.272000	0.08591	0.141000	0.15172	0.596000	0.33519	0.015000	0.19116	0.000000	0.08366	0.329000	0.25179	0.208:0.3091:0.483:0.0	2.746	0.04943	893	0.26510	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1706.98	34	chr22	19782924	.	G	C	1706.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.050;DP=836;ExcessHet=0.0000;FS=1.359;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=0.313;SOR=0.543	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1357	20	0	1	0
chr22	19878372	19878372	A	C	exonic	TXNRD2	.	unknown	UNKNOWN,	.	YES	0	1516	6	0	0	6	0.00197498	.	.	259117	Glucocorticoid_deficiency_5|Primary_dilated_cardiomyopathy|not_provided|Cardiovascular_phenotype	MONDO:MONDO:0040502,MedGen:C4540522,OMIM:617825|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	4.032	20.7	3.93	1.200	1.681	8.450	.	.	.	0.000599042	0.0007	0	0.0007	0	0	0.0002	0.0011	0.0039	0.0005627	87	154602	rs202059967	0.0003	0.0003	0.0002	0.0004	0.0033	0.0003	0.0003	0.0030	0.0029	5.974e-05	0.0004	0	0	0	0.0010	8.543e-05	0.0003	0.0033	0.0002	0.0002	0.0002	0.0003	0.0050	0.0002	0.0001	0.0034	0.0029	2.408e-05	0	0	0	0	0	0.0034	8.822e-05	0.0005	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.964	0.99100	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188326	0.72810	D	0.495319	0.94515	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;Recessive;.	.;.;.;.;.;High;.	9.604062	0.99123	42	0.99358526403506564	0.60904	0.75592	0.37019	D	AEFDGBCI	0.247990	0.36847	N	0.304834541952508	0.56397	3.804273	0.12089276907324	0.45619	2.821862	0.999993783691145	0.74766	0.693126	0.56070	0	0.659464	0.62310	0	0.643519	0.47002	0	0.638787	0.57140	0	.	.	4.95	3.93	0.44666	1.798000	0.38449	3.929000	0.40522	-0.762000	0.03503	1.000000	0.71638	1.000000	0.68203	0.168000	0.20914	0.1869:0.0:0.8131:0.0	8.450	0.32028	914	0.21048	.;.;.;.;.;Pyridine nucleotide-disulphide oxidoreductase, dimerisation domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1599.98	134	chr22	19878372	.	A	C	1599.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=824;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=0.869;SOR=0.643	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1102	20	0	1	0
chr22	19971245	19971245	C	T	exonic	ARVCF	.	nonsynonymous SNV	ARVCF:NM_001670:exon19:c.G2872A:p.V958I,	.	.	1	1515	6	0	0	6	0.00197628	.	.	1326445	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.982	D	0.355	B	0.455	U	0.999	D	1.525	L	-0.48	T	-0.643	T	0.293	T	0.217	4.523	24.4	4.07	2.288	3.273	13.656	0.157	0.144733837778	0.0005	.	0.0005	0.0003	0	0	0	0.0002	0	0.0009	0.0001035	16	154602	rs72554700	0.0001	0.0001	0.0001	0.0001	0.0011	0.0001	9.464e-05	0.0007	0.0007	6.262e-05	0	0	0	0	0.0011	6.94e-05	8.596e-05	0.0009	9.844e-05	9.841e-05	0.0001	9.394e-05	0.0002	6e-05	4.874e-05	9.048e-05	7.012e-05	2.405e-05	0	0.0001	0	0	0	0	0.0002	0.0005	0	0.011	0.55530	D	0.129	0.35840	T	0.982	0.60036	D	0.355	0.42984	B	0.454665	0.04835	U	1.580110	0.999415	0.46970	D	1.65	0.42232	L	-0.53	0.70833	T	-0.18	0.10136	N	0.496	0.57006	-0.6428	0.63026	T	0.293	0.66470	T	9	0.13378367	0.25462	T	0.144734	0.82697	D	0.157	0.40909	.	.	0.772867385776	0.77077	0.11831751945771429	0.11758	0.505120653488	0.48769	0.570902884007	0.48805	T	0.009975	0.09046	T	-0.348929	0.04795	T	-0.32443	0.42088	T	0.132832181218502	0.15641	T	0.975502	0.92224	D	0.13635507	0.31613	0.094390154	0.22339	0.13635507	0.31613	0.094390154	0.22338	-5.957	0.45943	T	.	.	0.12	0.32541	B	.;.;.;.	.;.;.;.	4.225391	0.63950	24.6	0.99795101223611105	0.88017	0.94199	0.60414	D	AEFDBHCI	0.349002	0.44294	N	0.274791452405319	0.54873	3.652094	0.298029859051852	0.55424	3.705471	0.999999999959618	0.74766	0.631981	0.41245	0	0.550933	0.16991	0	0.779548	0.98927	0	0.636168	0.56350	0	.	.	4.07	4.07	0.46726	5.381000	0.65959	7.483000	0.59280	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	13.656	0.61812	739	0.53257	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1205.98	40	chr22	19971245	.	C	T	1205.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.24;DP=927;ExcessHet=0.0000;FS=1.551;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.17;ReadPosRankSum=1.27;SOR=0.885	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	0	1	0
chr22	19978044	19978044	G	A	exonic	ARVCF	.	nonsynonymous SNV	ARVCF:NM_001670:exon8:c.C1612T:p.R538W,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.989	D	0.000	D	1.000	D	2.435	M	-1.21	T	0.129	D	0.578	D	0.744	4.365	23.0	4.03	2.541	1.363	9.929	0.551	0.142453970924	.	0.000199681	8.493e-06	9.876e-05	0	0	0	0	0	0	1.29e-05	2	154602	rs560236817	2.811e-05	3.078e-05	2.864e-05	2.757e-05	0.0002	2.091e-05	1.882e-05	2.542e-05	2.226e-05	0	0	0	0	0	0.0002	3.42e-05	3.318e-05	0	1.97e-05	1.968e-05	2.57e-05	1.343e-05	4.411e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.7	0.79018	M	-1.21	0.78645	T	-5.88	0.88699	D	0.836	0.86618	0.129	0.84686	D	0.578	0.84773	D	9	0.830757	0.82239	D	0.142454	0.82483	D	0.551	0.81427	0.474	0.55020	0.961431950199	0.96101	0.6904431472068775	0.68984	0.54274777284	0.51373	0.809517085552	0.83418	D	0.427629	0.77704	T	0.0874991	0.62906	D	0.0700568	0.74915	D	0.994939923286438	0.86546	D	0.989945	0.96848	D	0.7440255	0.80523	0.57720095	0.75502	0.7440255	0.80525	0.57720095	0.75503	-13.414	0.90997	D	.	.	0.274	0.50736	B	.;.;.;.	.;.;.;.	5.180291	0.86860	29.0	0.9992309039060131	0.98917	0.65501	0.32759	D	AEFDGBHCI	0.794237	0.72200	D	0.481060551880264	0.65986	4.89187	0.386844952028998	0.60751	4.266508	0.999999997610801	0.74766	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.03	4.03	0.46115	1.771000	0.38172	3.397000	0.38105	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.6632:0.3368	9.929	0.40681	736	0.53558	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	828.98	34	chr22	19978044	.	G	A	828.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.070e-01;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.21;ReadPosRankSum=-1.204e+00;SOR=0.704	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1205	20	0	1	0
chr22	20053469	20053469	G	A	exonic	TANGO2	.	nonsynonymous SNV	TANGO2:NM_001283116:exon5:c.G298A:p.V100M	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1383261	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.85	P	0.164	B	0.070	N	1.000	N	0.055	N	2.02	T	-0.987	T	0.018	T	0.187	-0.258	2.759	-0.736	-0.068	0.031	4.987	0.020	0.00266179467874	.	.	2.476e-05	9.63e-05	0	0	0	3.003e-05	0	0	1.94e-05	3	154602	rs772019892	1.026e-05	1.094e-05	6.808e-06	1.375e-05	5.04e-05	6.16e-06	4.89e-06	8.35e-06	4.55e-06	0	0	0	5.04e-05	0	0	1.079e-05	0	1.159e-05	1.314e-05	1.313e-05	2.569e-05	0	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	0.175	0.22400	T	0.235	0.36233	T	0.055	0.22733	B	0.031	0.21939	B	0.069579	0.21597	N	0.534882	1	0.08975	N	-0.26	0.03792	N	2.02	0.21119	T	0.32	0.05917	N	0.032	0.01658	-0.9870	0.33347	T	0.018	0.07282	T	10	0.027683675	0.00910	T	0.002662	0.05434	T	0.020	0.03691	.	.	0.0138822411134	0.00435	0.221242589083376	0.22039	0.12850032888	0.14489	0.250920236111	0.03865	T	0.002063	0.02829	T	-0.400331	0.02304	T	-0.631296	0.10317	T	0.0392945811870321	0.03563	T	0.893911	0.63821	D	0.044189204	0.07020	0.047959507	0.07023	0.044189204	0.07020	0.047959507	0.07023	-4.442	0.43461	T	0.10281366707563633	0.07857	0.096	0.16054	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.149208	0.15371	11.80	0.54269293479158531	0.05104	0.02631	0.07223	N	AEFDGBCI	0.042722	0.06663	N	-1.04473653361047	0.07691	0.358158	-1.08985520404688	0.07899	0.3861124	0.999986798838924	0.51787	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.61	-0.736	0.10572	0.059000	0.14199	0.168000	0.15485	-0.172000	0.11096	0.006000	0.17386	0.000000	0.08366	0.952000	0.50033	0.4882:0.1599:0.3519:0.0	4.987	0.13542	669	0.61081	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1227.98	37	chr22	20053469	.	G	A	1227.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=837;ExcessHet=0.0000;FS=1.423;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.82;ReadPosRankSum=0.124;SOR=0.811	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1342	20	0	1	0
chr22	20140702	20140702	C	T	exonic	ZDHHC8	.	nonsynonymous SNV	ZDHHC8:NM_001185024:exon6:c.C746T:p.A249V	.	.	411	1110	1	0	0	1	0.000450248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.999	D	0.915	D	0.015	N	1.000	D	1.665	L	1.19	T	-0.211	T	0.470	T	0.561	5.040	29.8	4.02	2.515	4.575	15.342	0.213	0.0837550572238	0.0002	.	4.921e-05	0.0002	0.0001	0	0	3.539e-05	0	0	3.23e-05	5	154602	rs138696405	3.429e-05	3.625e-05	3.275e-05	3.585e-05	0.0004	2.638e-05	2.381e-05	6.309e-05	2.602e-05	5.979e-05	4.498e-05	0	2.521e-05	0	0.0004	3.06e-05	0.0001	1.165e-05	3.284e-05	3.283e-05	3.853e-05	2.688e-05	0.0002	1.26e-05	7.98e-06	7.99e-06	2.99e-06	4.822e-05	0	0	0	0	0	0	1.47e-05	0.0005	0.0002	0.016	0.78490	D	0.039	0.69154	D	0.977	0.77913	D	0.484	0.65091	P	0.015195	0.28316	N	0.359988	0.999999	0.58761	D	2.14	0.59869	M	1.19	0.75001	T	-2.5	0.55181	D	0.535	0.72209	-0.2114	0.77377	T	0.470	0.79615	T	10	0.3344469	0.50619	T	0.083755	0.74183	D	0.213	0.50496	.	.	0.255117706274	0.25116	0.8910711311662665	0.89077	2.13696676436	0.95219	0.678158760071	0.64004	T	0.19289	0.54818	T	-0.0850515	0.38890	T	-0.111638	0.62481	T	0.288754461032604	0.24538	T	0.914708	0.76374	D	0.17976676	0.39063	0.20205595	0.44215	0.17976676	0.39063	0.20205595	0.44214	-10.97	0.79494	D	.	.	0.311	0.58114	B	.;.;.	.;.;.	5.110921	0.85445	28.6	0.99940117182342958	0.99767	0.96328	0.68601	D	AEFBI	0.608059	0.59778	D	0.524303319593881	0.68531	5.230059	0.526800815256438	0.69800	5.412255	0.999999997675314	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.11	4.02	0.45968	5.738000	0.68254	5.876000	0.50589	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.8601:0.1399:0.0	15.342	0.74018	687	0.59234	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1314.98	34	chr22	20140702	.	C	T	1314.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.02;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.99;ReadPosRankSum=0.965;SOR=0.758	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,112,1407	20	0	1	0
chr22	20149762	20149762	G	A	exonic	CCDC188	.	nonsynonymous SNV	CCDC188:NM_001365892:exon4:c.C751T:p.R251C,	.	.	408	1113	1	0	0	1	0.000449035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	.	.	.	.	0.76	T	-0.896	T	0.030	T	0.269	3.108	16.39	1.75	1.027	0.669	6.256	0.032	.	.	.	0.0185	0.0418	0.0133	0	0.0833	0.0161	0	0.0168	0.001009	156	154602	rs140968932	0.0003	0.0040	0.0003	0.0003	0.0009	0.0003	0.0003	0.0006	0.0005	0.0009	0.0002	0.0002	0.0001	0.0001	0.0002	0.0003	0.0002	0.0004	3.944e-05	7.224e-05	5.14e-05	2.692e-05	7.239e-05	1.716e-05	1.13e-05	1.92e-05	1.032e-05	7.239e-05	0	0	0	0	0	0	4.413e-05	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.479	0.51405	-0.8957	0.48418	T	0.030	0.13023	T	5	0.0076001287	0.00173	T	.	.	.	.	.	.	.	0.487137410055	0.48344	0.2880300405752514	0.28716	.	.	.	.	.	0.153309	0.49410	T	-0.455422	0.01049	T	-0.415928	0.31544	T	0.0792110446656886	0.09885	T	0.746525	0.36724	T	0.09299748	0.21832	0.12022219	0.29014	0.09299748	0.21831	0.12022219	0.29014	-5.198	0.38921	T	.	.	0.320	0.54536	B	.	.	4.814607	0.78358	26.9	0.99857414023084534	0.93639	0.30259	0.24036	N	AEFDGBCI	0.114642	0.22572	N	0.024187269449117	0.42957	2.598166	0.0165763115105079	0.40483	2.416809	0.992194697900315	0.32752	0.660377	0.49826	0	0.694456	0.67091	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.11	1.75	0.23707	0.439000	0.21293	2.996000	0.35901	-0.167000	0.11441	0.001000	0.13787	1.000000	0.68203	0.954000	0.50415	0.0:0.1803:0.4496:0.3701	6.256	0.20081	798	0.45050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1166.98	45	chr22	20149762	.	G	A	1166.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.09;DP=904;ExcessHet=0.0000;FS=5.615;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.31;MQRankSum=-1.497e+00;QD=8.91;ReadPosRankSum=1.58;SOR=1.185	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1390	20	0	1	0
chr22	20242477	20242477	G	A	exonic	RTN4R	.	nonsynonymous SNV	RTN4R:NM_023004:exon2:c.C656T:p.P219L,	.	.	.	.	.	.	.	.	.	.	.	2779541	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.997	D	0.867	P	0.060	N	1.000	N	1.66	L	4.1	T	-1.005	T	0.115	T	0.58	1.394	10.59	3.35	1.200	0.918	5.986	0.020	0.0257947881535	.	.	3.327e-05	0	0	0.0001	0	3.034e-05	0	6.058e-05	2.59e-05	4	154602	rs777345223	1.163e-05	1.163e-05	4.085e-06	1.926e-05	0.0003	7.09e-06	5.79e-06	6.092e-05	2.521e-05	5.974e-05	0	0	5.038e-05	0	0.0003	6.295e-06	1.656e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.33091	T	0.141	0.33442	T	0.997	0.70673	D	0.867	0.61644	P	0.060226	0.22264	N	0.232414	0.999999	0.08975	N	1.915	0.51223	L	4.1	0.02944	T	-3.28	0.65627	D	0.457	0.49420	-1.0050	0.28457	T	0.115	0.40786	T	10	0.40564752	0.55873	T	0.025795	0.48750	D	0.097	0.27909	0.467	0.53891	0.465451373931	0.46169	0.954268198552868	0.95410	1.10540808007	0.77880	0.529132008553	0.42912	T	0.604766	0.87385	D	-0.260326	0.12862	T	-0.430189	0.29913	T	0.320815145969391	0.25855	T	0.863014	0.55864	D	0.19320516	0.41021	0.11871375	0.28655	0.19320516	0.41021	0.11871375	0.28654	-8.025	0.61241	D	.	.	0.179	0.38977	B	.	.	3.644556	0.51696	23.1	0.99328866375087876	0.59700	0.55995	0.30004	D	AEFDGBI	0.179359	0.30665	N	-0.274746625243033	0.30126	1.676972	-0.368379093571796	0.25946	1.430026	0.999996585962214	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.36	3.35	0.37468	0.543000	0.22945	5.742000	0.49579	0.676000	0.76740	0.216000	0.24491	1.000000	0.68203	0.001000	0.02609	0.1045:0.1947:0.7008:0.0	5.986	0.18664	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	7950.08	34	chr22	20242477	.	G	A	7950.08	.	AC=2;AF=0.048;AN=42;DP=980;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.30;SOR=0.774	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1015	20	1	0	0
chr22	20566529	20566529	-	CAG	exonic	MED15	.	nonframeshift insertion	MED15:NM_001293236:exon6:c.540_541insCAG:p.Q191_A192insQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4877.26	33	chr22	20566526	.	ACAG	ACAGCAG,A	4877.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-6.180e-01;DP=1022;ExcessHet=1.7912;FS=8.693;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=-1.950e-01;SOR=0.415	GT:AD:DP:GQ:PL	0/0:36,0,0:36:99:0,99,1282,99,1282,1282	15	0	5	0
chr22	20779749	20779749	A	T	exonic	SERPIND1	.	nonsynonymous SNV	SERPIND1:NM_000185:exon2:c.A437T:p.N146I,	Thrombophilia due to heparin cofactor II deficiency, Autosomal dominant	.	0	1514	8	0	0	8	0.00263505	.	.	3226514	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.033	B	0.098	B	0.831	N	1.000	N	2.605	M	-2.37	D	-0.195	T	0.650	D	0.171	1.723	11.72	-7.12	-1.378	0.823	11.649	0.364	0.075291750618	.	0.000199681	0.0003	0	8.639e-05	0	0	0.0003	0.0011	0.0007	0.0002199	34	154602	rs202123183	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0008	0.0006	0	4.472e-05	0	0	0	0.0016	0.0002	0.0002	0.0007	0.0001	0.0001	0.0001	0.0001	0.0006	8.161e-05	6.718e-05	0.0002	8.992e-05	2.405e-05	0	6.532e-05	0	0	0	0.0068	0.0002	0.0005	0.0006	0.005	0.63226	D	0.051	0.47828	T	0.033	0.20350	B	0.098	0.30479	B	0.831281	0.06943	N	1.070710	1	0.08975	N	2.645	0.77386	M	-2.37	0.88220	D	-4.2	0.75695	D	0.291	0.32921	-0.1947	0.77808	T	0.650	0.87808	D	10	0.118846685	0.22477	T	0.075292	0.72252	D	0.364	0.68407	.	.	0.725326469919	0.72289	0.5559638039926801	0.55523	0.279714035493	0.30458	0.261275947094	0.05043	T	0.73965	0.92778	D	-0.226175	0.17158	T	-0.201867	0.54470	T	0.123033718491691	0.14724	T	0.510849	0.16306	T	0.34378368	0.56579	0.33984292	0.59744	0.34081054	0.56344	0.29802918	0.55836	-6.816	0.52678	T	0.5866665607633216	0.65347	0.167	0.36850	B	.;.	.;.	0.562653	0.09313	6.093	0.92906638319264323	0.22463	0.21794	0.21526	N	AEFBCI	0.815301	0.73731	D	-1.07210388660278	0.07161	0.3318281	-1.23473058753536	0.05361	0.255236	0.999999998555097	0.74766	0.372202	0.05800	0	0.546412	0.12157	0	0.491513	0.07944	0	0.591603	0.36755	0	.	.	5.59	-7.12	0.01384	0.819000	0.26965	-0.209000	0.10871	-0.054000	0.16847	0.000000	0.06391	0.000000	0.08366	0.471000	0.28363	0.5312:0.082:0.3869:0.0	11.649	0.50537	798	0.45050	Serpin domain|Serpin domain|Heparin cofactor II;Serpin domain|Serpin domain|Heparin cofactor II	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2372.98	35	chr22	20779749	.	A	T	2372.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.09;DP=887;ExcessHet=0.0000;FS=1.150;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=-6.170e-01;SOR=0.607	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1144	20	0	1	0
chr22	20779794	20779794	C	A	exonic	SERPIND1	.	nonsynonymous SNV	SERPIND1:NM_000185:exon2:c.C482A:p.A161E,	Thrombophilia due to heparin cofactor II deficiency, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.835	H	-2.32	D	0.972	D	0.870	D	0.958	5.267	33	5.59	2.639	6.059	19.584	0.895	0.233398830457	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs930125664	2.052e-05	2.052e-05	2.042e-05	2.063e-05	0.0002	1.456e-05	1.264e-05	1.46e-05	1.227e-05	0	2.236e-05	0	0	0	0.0002	2.158e-05	6.623e-05	0	2.627e-05	2.625e-05	2.569e-05	2.686e-05	6.536e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	6.536e-05	0	0	0	0	2.94e-05	0.0005	0	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.12	0.97420	H	-2.32	0.87830	D	-4.56	0.78636	D	0.905	0.90932	0.972	0.96730	D	0.870	0.95691	D	10	0.9829266	0.98400	D	0.233399	0.88364	D	0.895	0.97022	0.864	0.95995	0.957657325071	0.95721	0.9460002484845459	0.94582	0.621991151545	0.56487	0.558668851852	0.47080	T	0.865616	0.97054	D	0.466641	0.93204	D	0.496167	0.94544	D	0.999387383460999	0.97194	D	0.89721	0.64041	D	0.99155056	0.99840	0.97812325	0.99766	0.99155056	0.99840	0.97812325	0.99766	-10.554	0.77157	D	0.6384620992970538	0.70882	0.939	0.85795	P	.;.	.;.	4.975185	0.82369	27.8	0.99601032854645888	0.74219	0.96792	0.70964	D	AEFBHCI	0.954025	0.97080	D	0.970884454253493	0.94777	13.03138	0.880455341435966	0.94664	12.94036	1.0	0.98316	0.372202	0.05800	0	0.546412	0.12157	0	0.491513	0.07944	0	0.192219	0.04218	2	.	.	5.59	5.59	0.84677	6.140000	0.71491	7.726000	0.67550	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:1.0:0.0:0.0	19.584	0.95477	798	0.45050	Serpin domain|Serpin domain|Heparin cofactor II;Serpin domain|Serpin domain|Heparin cofactor II	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2700.98	35	chr22	20779794	.	C	A	2700.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.824;DP=918;ExcessHet=0.0000;FS=0.510;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=-9.710e-01;SOR=0.714	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1144	20	0	1	0
chr22	20780160	20780160	C	G	exonic	SERPIND1	.	nonsynonymous SNV	SERPIND1:NM_000185:exon2:c.C848G:p.P283R,	Thrombophilia due to heparin cofactor II deficiency, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3311069	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.524	P	0.279	B	0.000	D	1.000	D	2.095	M	-1.86	D	0.138	D	0.583	D	0.778	3.498	17.88	5.18	2.688	7.606	18.882	0.581	0.0392114494586	.	.	8.267e-05	0	0.0003	0	0	1.505e-05	0	0.0004	7.12e-05	11	154602	rs375194591	3.762e-05	3.762e-05	3.403e-05	4.125e-05	0.0003	2.959e-05	2.655e-05	0.0002	0.0002	0	0.0003	0	0	0	0.0003	1.169e-05	3.311e-05	0.0003	2.628e-05	2.627e-05	2.569e-05	2.69e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	6.545e-05	0	0	0	0	2.94e-05	0	0.0002	0.044	0.41096	D	0.128	0.34959	T	0.524	0.37583	P	0.279	0.40265	B	0.000000	0.84330	D	0.048286	1	0.81001	D	2.12	0.58754	M	-1.86	0.84341	D	-2.34	0.51811	N	0.695	0.71676	0.138	0.84855	D	0.583	0.85026	D	10	0.6246927	0.68175	D	0.039211	0.58675	D	0.581	0.83137	0.362	0.36711	0.908300580516	0.90738	0.705887968282994	0.70530	0.570378327537	0.53198	0.449381172657	0.31860	T	0.634408	0.88710	D	8.58806e-05	0.51667	T	0.0903073	0.76266	D	0.190966039896011	0.19901	T	0.723028	0.33655	T	0.7018591	0.78158	0.39361337	0.64076	0.7018591	0.78159	0.39361337	0.64076	-6.313	0.48824	T	0.572296807799453	0.63940	0.160	0.37255	B	.;.	.;.	4.000105	0.58929	24.0	0.99491026217686962	0.67460	0.98617	0.84749	D	AEFDBCI	0.977158	0.99709	D	0.363752608945936	0.59471	4.126609	0.413290569082633	0.62393	4.45382	1.0	0.98316	0.50712	0.20391	0	0.54472	0.11627	0	0.547309	0.15389	0	0.635259	0.50027	0	.	.	5.18	5.18	0.71140	7.681000	0.83381	7.685000	0.65502	0.599000	0.40250	1.000000	0.71638	0.996000	0.32793	0.896000	0.43308	0.0:1.0:0.0:0.0	18.882	0.92329	798	0.45050	Serpin domain|Serpin domain|Heparin cofactor II;Serpin domain|Serpin domain|Heparin cofactor II	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	795.98	35	chr22	20780160	.	C	G	795.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.230e-01;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.95;ReadPosRankSum=-7.710e-01;SOR=0.770	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1144	20	0	1	0
chr22	20858653	20858653	-	GGAGCC	exonic	PI4KA	.	nonframeshift insertion	PI4KA:NM_001362862:exon1:c.72_73insGGCTCC:p.S24_S25insGS	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, Autosomal recessive	.	0	224	2	0	0	2	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.33e-05	0	0	0	.	0	0	0.0001	3.84e-05	1	26028	rs775551757	7.811e-05	7.457e-05	7.707e-05	7.917e-05	0.0010	6.565e-05	6.135e-05	0.0007	0.0006	0.0010	0.0009	0	3.394e-05	0	0.0004	1.232e-05	9.042e-05	0.0004	0.0002	0.0002	0.0002	0.0003	0.0006	0.0002	0.0001	0.0004	0.0004	0.0006	0	0.0003	0	0	0	0	1.472e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	834.94	35	chr22	20858653	.	T	TGGAGCC	834.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.069;DP=762;ExcessHet=0.0000;FS=1.223;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.42;ReadPosRankSum=1.05;SOR=0.443	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,952	20	0	1	0
chr22	20996785	20996785	T	C	exonic	LZTR1	.	nonsynonymous SNV	LZTR1:NM_006767:exon19:c.T2309C:p.V770A,	Noonan syndrome 10, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	798071	Cardiovascular_phenotype|Hereditary_cancer-predisposing_syndrome|not_specified|Schwannomatosis_2|not_provided	MedGen:CN230736|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0014299,MedGen:C3810283,OMIM:615670,Orphanet:93921|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.33	T	0.99	D	0.98	D	0.000	D	1.000	D	1.735	L	-0.46	T	-0.421	T	0.392	T	0.724	3.541	18.07	5.36	2.246	6.072	13.352	0.335	0.0938021153193	.	.	4.975e-05	0	0	0	0	3.022e-05	0	0.0002	4.53e-05	7	154602	rs752880731	2.942e-05	2.941e-05	2.043e-05	3.851e-05	0.0005	2.217e-05	1.97e-05	0.0002	0.0002	0	0	0	0	0	0.0005	1.259e-05	4.968e-05	0.0003	1.971e-05	1.969e-05	2.571e-05	1.343e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0.0034	1.471e-05	0	0.0002	0.197	0.20607	T	0.462	0.12526	T	0.979	0.59044	D	0.581	0.50218	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.5	0.37844	L	-0.46	0.70014	T	-1.43	0.35194	N	0.827	0.82257	-0.4214	0.71347	T	0.392	0.74546	T	10	0.36777124	0.53237	T	0.093802	0.76138	D	0.335	0.65718	0.437	0.48993	0.662442163852	0.65961	0.5158371027638383	0.51506	0.0763063782578	0.08565	0.787131428719	0.80006	T	0.066024	0.32839	T	-0.0741497	0.40660	T	-0.0439635	0.67433	D	0.218964889645576	0.21412	T	0.810219	0.46129	T	0.2103275	0.43326	0.15434203	0.36228	0.2103275	0.43326	0.15434203	0.36227	-9.124	0.68491	D	0.12599599016221305	0.12637	0.433	0.61357	A	.;.	.;.	4.797793	0.77929	26.8	0.99486029985715463	0.67180	0.98758	0.86475	D	AEFGBHCI	0.817808	0.73921	D	0.505935215048662	0.67441	5.081948	0.537756541897708	0.70548	5.521707	0.999999999998515	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.36	5.36	0.76624	6.042000	0.70632	7.785000	0.68758	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	13.352	0.60051	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1734.98	33	chr22	20996785	.	T	C	1734.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.670e-01;DP=919;ExcessHet=0.0000;FS=0.604;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.64;ReadPosRankSum=-1.412e+00;SOR=0.674	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1339	20	0	1	0
chr22	21000727	21000727	C	G	exonic	THAP7	.	nonsynonymous SNV	THAP7:NM_030573:exon3:c.G297C:p.L99F	.	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.991	D	0.793	P	0.066	N	0.908	D	1.625	L	-3.93	D	0.711	D	0.830	D	0.273	2.924	15.74	3.22	1.137	-1.088	8.047	0.458	0.280544748449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.23997	T	0.132	0.34477	T	0.991	0.64070	D	0.793	0.57829	P	0.066247	0.21823	N	0.308799	0.908415	0.36347	D	1.735	0.44892	L	-3.93	0.96111	D	-1.1	0.28497	N	0.254	0.28732	0.711	0.93317	D	0.830	0.94309	D	10	0.36585528	0.53094	T	0.280545	0.90215	D	0.458	0.75619	0.532	0.64002	0.937969807214	0.93732	0.2123929642903581	0.21155	0.946982548129	0.72448	0.624253153801	0.56330	T	0.040956	0.25698	T	0.0424402	0.57364	T	-0.176814	0.56818	T	0.603788256645203	0.36551	D	0.743326	0.36245	T	0.054075863	0.10326	0.069629684	0.14694	0.054075863	0.10326	0.069629684	0.14694	-5.768	0.44294	T	.	.	0.098	0.16187	B	.;.	.;.	1.388399	0.18007	13.50	0.99704055386727652	0.80867	0.43319	0.27072	N	AEFDGBHCI	0.247279	0.36788	N	-0.014251535475362	0.41211	2.46094	-0.126705562004291	0.34318	1.972674	0.999999999999984	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	4.24	3.22	0.36041	-1.023000	0.03718	-1.637000	0.05012	-0.176000	0.10722	0.029000	0.20367	0.000000	0.08366	0.296000	0.24405	0.0:0.8872:0.0:0.1128	8.047	0.29718	856	0.34373	THAP-type zinc finger;THAP-type zinc finger	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1340.98	40	chr22	21000727	.	C	G	1340.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.840e-01;DP=924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=0.021;SOR=0.630	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1285	20	0	1	0
chr22	21001287	21001287	C	G	exonic	THAP7	.	nonsynonymous SNV	THAP7:NM_030573:exon2:c.G205C:p.E69Q	.	.	413	1080	28	1	0	30	0.0136986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.999	D	0.959	D	0.005	N	0.985	D	0.885	L	-4.04	D	0.868	D	0.878	D	0.645	4.858	27.7	5.32	2.775	2.002	16.538	0.495	.	0.0029	0.00359425	0.0042	0.0008	0.0022	0.0001	0.0005	0.0044	0.0022	0.0103	0.0038292	592	154602	rs145388226	0.0037	0.0037	0.0033	0.0041	0.0153	0.0036	0.0036	0.0127	0.0117	0.0004	0.0021	0.0052	0	0.0004	0.0153	0.0035	0.0050	0.0107	0.0029	0.0029	0.0030	0.0029	0.0100	0.0027	0.0026	0.0077	0.0069	0.0005	0	0.0036	0.0066	0	0.0003	0.0170	0.0042	0.0019	0.0100	0.071	0.35165	T	0.065	0.44702	T	0.999	0.77913	D	0.959	0.70163	D	0.005322	0.32892	N	0.207655	0.984501	0.40154	D	1.86	0.49225	L	-4.04	0.96465	D	-1.0	0.26422	N	0.51	0.54147	0.868	0.95255	D	0.878	0.95945	D	10	0.011849105	0.00257	T	.	.	.	0.495	0.78036	.	.	0.928443736517	0.92771	0.5106856479628384	0.50990	1.04383462817	0.75888	0.704212069511	0.67754	T	0.470217	0.80343	T	-0.0868601	0.38593	T	0.11185	0.77694	D	0.0140772103541453	0.00273	T	0.733327	0.34901	T	0.17945296	0.39017	0.0818451	0.18634	0.17945296	0.39017	0.0818451	0.18634	-6.156	0.47566	T	.	.	0.173	0.39630	B	.;.	.;.	4.919085	0.81005	27.4	0.99763001721582423	0.85254	0.82732	0.41920	D	AEFDGBHCI	0.284901	0.39765	N	0.501033597613452	0.67151	5.043596	0.531477224639649	0.70120	5.45857	0.999999999999998	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.372554	0.06265	0	.	.	5.32	5.32	0.75377	2.065000	0.41068	7.533000	0.59948	0.599000	0.40250	0.928000	0.32210	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	16.538	0.84226	851	0.35303	THAP-type zinc finger|THAP-type zinc finger|THAP-type zinc finger|THAP-type zinc finger;THAP-type zinc finger|THAP-type zinc finger|THAP-type zinc finger|THAP-type zinc finger	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1273.98	33	chr22	21001287	.	C	G	1273.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.587;DP=798;ExcessHet=0.0000;FS=0.749;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=-1.326e+00;SOR=0.551	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1246	20	0	1	0
chr22	21023167	21023167	A	C	exonic	P2RX6	.	nonsynonymous SNV	P2RX6:NM_001349874:exon5:c.A154C:p.T52P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.993	D	0.929	D	0.000	D	1.000	N	2.045	M	3.62	T	-1.103	T	0.033	T	0.749	3.694	18.77	4.2	2.144	0.627	5.088	0.214	0.0154876096646	.	.	8.238e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs773083781	2.737e-06	2.736e-06	4.084e-06	1.375e-06	0.0002	6.4e-07	4.3e-07	.	.	0	0	0	0	0	0.0002	8.994e-07	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.32769	T	0.18	0.29442	T	0.991	0.64070	D	0.929	0.66367	D	0.000017	0.62929	D	0.000000	0.606966	0.58761	D	2.52	0.73523	M	3.62	0.04399	T	-3.03	0.62747	D	0.441	0.47949	-1.1035	0.03693	T	0.033	0.14117	T	10	0.49842465	0.61404	T	0.015488	0.36250	T	0.214	0.50650	0.658	0.79585	0.263140351381	0.25927	0.8214760136259428	0.82104	0.472293714503	0.46467	0.339279979467	0.16330	T	0.180	0.53132	T	-0.103075	0.35915	T	-0.288982	0.45880	T	0.925974249839783	0.58799	D	0.508649	0.19863	T	0.57557493	0.71366	0.55932045	0.74505	0.57557493	0.71367	0.55932045	0.74506	-6.772	0.60291	T	.	.	0.654	0.71079	P	.;.	.;.	2.771166	0.36375	20.2	0.99631129083595027	0.76020	0.37668	0.25813	N	AEFDBHCI	0.379304	0.46238	N	0.29966920437741	0.56134	3.777533	0.213080051904852	0.50571	3.247867	0.999999780198256	0.74766	0.55562	0.30534	0	0.68496	0.65989	0	0.68496	0.61776	0	0.665031	0.64506	0	.	.	5.29	4.2	0.48814	0.085000	0.14759	4.165000	0.42235	0.756000	0.94297	0.000000	0.06391	0.997000	0.33255	0.484000	0.28656	0.7498:0.0:0.0891:0.1611	5.088	0.14027	637	0.64373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3221.98	33	chr22	21023167	.	A	C	3221.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.10;DP=1155;ExcessHet=0.0000;FS=2.052;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=0.386;SOR=0.824	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr22	21216084	21216084	C	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon10:c.G589A:p.G197S,	.	.	708	711	85	18	0	121	0.0784187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025511	664	26028	rs55710139	7.199e-06	1.59e-05	2.859e-06	1.16e-05	2.647e-05	3.64e-06	2.65e-06	2.72e-06	1.75e-06	0	0	0	2.647e-05	0	0	6.546e-06	1.74e-05	1.241e-05	5.682e-05	7.425e-05	5.532e-05	5.84e-05	9.519e-05	2.739e-05	2.062e-05	4.112e-05	2.739e-05	2.491e-05	0	8e-05	0	0	0	0	9.519e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	738.84	17	chr22	21216084	.	C	T	738.84	.	AC=9;AF=0.250;AN=36;BaseQRankSum=2.32;DP=347;ExcessHet=5.0238;FS=1.528;InbreedingCoeff=-0.3403;MLEAC=10;MLEAF=0.278;MQ=43.88;MQRankSum=-1.754e+00;QD=5.43;ReadPosRankSum=0.080;SOR=0.771	GT:AD:DP:GQ:PL	0/1:14,2:16:24:24,0,324	9	0	9	3
chr22	21221866	21221866	C	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon8:c.G382A:p.G128R,	.	.	367	1072	83	0	0	83	0.0372699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	3.56	H	2.16	T	-0.756	T	0.158	T	0.595	3.240	16.86	2.4	1.373	5.728	8.346	0.205	.	.	.	0.0101	0.0015	0.0037	0.0001	0.0029	0.0088	0.0164	0.0331	0.0010373	27	26028	rs201167132	0.0033	0.0036	0.0033	0.0034	0.0057	0.0031	0.0031	0.0042	0.0038	0	0.0032	0.0150	4.759e-05	0.0013	0.0057	0.0034	0.0043	0.0053	0.0035	0.0055	0.0035	0.0035	0.0142	0.0032	0.0030	0.0107	0.0094	0.0007	0.0014	0.0034	0.0237	0.0006	0.0013	0.0254	0.0041	0.0046	0.0142	0.005	0.63226	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	0.999955	0.52396	D	.	.	.	2.16	0.19166	T	-6.12	0.90060	D	0.284	0.32148	-0.7560	0.57620	T	0.158	0.49076	T	6	0.01360032	0.00288	T	.	.	.	0.205	0.49236	0.762	0.89053	.	.	0.9514192744851678	0.95125	3.4416008843	0.99721	.	.	.	.	.	.	-0.084608	0.38964	T	-0.35931	0.38133	T	0.0540700048513329	0.06201	T	0.90231	0.65919	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.512	0.65132	A	.;.	.;.	1.949334	0.24760	16.52	0.99714884515000801	0.81633	0.95373	0.64467	D	AEFDBI	0.718415	0.66962	D	0.309555566560693	0.56638	3.828811	0.0371836120562764	0.41456	2.490915	0.148356361276714	0.17397	0.549168	0.22868	0	0.627178	0.54094	0	0.600433	0.31921	0	0.564101	0.26826	0	.	.	2.4	2.4	0.28568	6.258000	0.72447	7.360000	0.58341	0.288000	0.18739	1.000000	0.71638	1.000000	0.68203	0.007000	0.07825	0.0:1.0:0.0:0.0	8.346	0.31437	444	0.79803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	143.98	36	chr22	21221866	.	C	T	143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.990e-01;DP=838;ExcessHet=0.0000;FS=1.092;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=48.69;MQRankSum=0.173;QD=1.56;ReadPosRankSum=0.825;SOR=0.437	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1128	20	0	1	0
chr22	21445760	21445760	G	A	exonic	HIC2	.	nonsynonymous SNV	HIC2:NM_015094:exon3:c.G865A:p.V289I,	.	.	398	1095	29	0	0	29	0.0130689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.0	B	0.0	B	0.313	N	1.000	N	1.735	L	2.89	T	-1.007	T	0.015	T	0.084	0.202	5.088	-1.96	-0.028	1.163	4.885	0.032	.	0.0045	0.000798722	0.0040	0.0007	0.0021	0	0.0009	0.0062	0.0108	0.0015	0.0033376	516	154602	rs138601828	0.0039	0.0039	0.0039	0.0039	0.0213	0.0038	0.0038	0.0183	0.0171	0.0013	0.0027	0.0326	0	0.0006	0.0213	0.0036	0.0066	0.0012	0.0030	0.0030	0.0032	0.0028	0.0036	0.0028	0.0027	0.0032	0.0031	0.0010	0	0.0027	0.0303	0	0.0005	0.0204	0.0036	0.0061	0.0010	0.064	0.36509	T	0.472	0.12176	T	0.0	0.02946	B	0.0	0.01387	B	0.312968	0.14401	N	0.699280	1	0.08975	N	0.255	0.09829	N	2.89	0.10196	T	-0.35	0.12847	N	0.064	0.03841	-1.0074	0.27727	T	0.015	0.06282	T	10	0.0022868216	0.00034	T	.	.	.	0.032	0.07718	.	.	0.117191471859	0.11215	0.04514653248244131	0.04458	0.448017709294	0.44648	0.510300815105	0.40265	T	0.022129	0.17114	T	-0.651761	0.00071	T	-0.709131	0.05339	T	0.00099573304214747	0.00010	T	0.463154	0.13467	T	0.04477088	0.07216	0.042352278	0.05024	0.04477088	0.07216	0.042352278	0.05024	-4.759	0.34109	T	.	.	0.106	0.21877	B	.;.;.	.;.;.	0.335655	0.07097	3.667	0.89703002674399623	0.19027	0.10933	0.16293	N	AEFBI	0.047228	0.07929	N	-0.959511898439442	0.09480	0.4488646	-1.00241423907496	0.09732	0.4858989	0.0640159839261247	0.15315	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.491896	0.07777	0	.	.	4.74	-1.96	0.07113	1.176000	0.31566	0.293000	0.16894	-0.134000	0.12905	0.002000	0.15269	0.000000	0.08366	0.223000	0.22544	0.4214:0.0:0.4368:0.1418	4.885	0.13054	929	0.16858	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	879.98	39	chr22	21445760	.	G	A	879.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.880e-01;DP=1001;ExcessHet=0.0000;FS=2.263;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.17;ReadPosRankSum=-2.350e-01;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,110,1476	20	0	1	0
chr22	21445988	21445988	G	A	exonic	HIC2	.	nonsynonymous SNV	HIC2:NM_015094:exon3:c.G1093A:p.E365K,	.	.	408	1051	60	3	0	66	0.0304428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.842	P	0.321	B	0.000	D	1.000	D	0.805	L	2.87	T	-1.016	T	0.021	T	0.438	1.216	9.936	5.18	2.694	3.939	16.225	0.147	.	.	0.00199681	0.0032	0	0.0004	0	0	0.0020	0.0023	0.0146	0.0020569	318	154602	rs149799345	0.0014	0.0014	0.0011	0.0017	0.0134	0.0013	0.0013	0.0110	0.0101	0.0003	0.0007	0.0179	0	0	0.0134	0.0004	0.0023	0.0106	0.0014	0.0014	0.0013	0.0015	0.0095	0.0012	0.0012	0.0073	0.0066	0.0002	0	0.0005	0.0242	0	0	0.0068	0.0009	0.0019	0.0095	0.045	0.40832	D	0.205	0.27145	T	0.842	0.46562	P	0.321	0.41760	B	0.000087	0.51296	D	0.129540	0.999958	0.52396	D	1.1	0.28011	L	2.87	0.10386	T	-0.61	0.18042	N	0.222	0.25989	-1.0161	0.24980	T	0.021	0.08639	T	10	0.004128903	0.00081	T	.	.	.	0.147	0.38986	.	.	0.221890330934	0.21812	0.18196097492644409	0.18115	0.638735978135	0.57575	0.689908981323	0.65693	T	0.012475	0.10959	T	-0.483591	0.00705	T	-0.458027	0.26816	T	0.0364715312035745	0.03063	T	0.79772	0.44184	T	0.14119413	0.32544	0.14045286	0.33479	0.14119413	0.32544	0.14045286	0.33478	-5.163	0.38563	T	.	.	0.132	0.31456	B	.;.;.	.;.;.	2.863044	0.37831	20.6	0.93165849342801133	0.22820	0.94731	0.62136	D	AEFDBCI	0.391223	0.46975	N	-0.0280916914730184	0.40586	2.412805	0.0229660518386293	0.40784	2.439533	0.999999999996887	0.74766	0.695654	0.57023	0	0.379588	0.06130	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.18	5.18	0.71140	1.798000	0.38449	9.871000	0.82128	0.654000	0.53741	0.969000	0.34210	1.000000	0.68203	0.402000	0.26827	0.0:0.0:1.0:0.0	16.225	0.82106	929	0.16858	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1304.11	36	chr22	21445988	.	G	A	1304.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.40;DP=912;ExcessHet=0.1072;FS=3.888;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=1.17;SOR=0.392	GT:AD:DP:GQ:PL	0/0:33,0:33:90:0,90,1350	19	0	2	0
chr22	21635160	21635160	C	T	exonic	CCDC116	.	nonsynonymous SNV	CCDC116:NM_001331066:exon4:c.C1097T:p.P366L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.003	B	0.017	N	1.000	N	-0.145	N	2.83	T	-0.974	T	0.010	T	0.082	-0.295	2.593	-7.14	-1.434	-0.493	5.161	0.010	0.00147953083166	.	0.000199681	3.348e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs553299459	2.07e-05	2.121e-05	1.374e-05	2.771e-05	0.0003	1.468e-05	1.274e-05	0.0002	0.0002	2.987e-05	0	0	0	0	0	0	1.658e-05	0.0003	2.627e-05	2.625e-05	1.285e-05	4.03e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.017432	0.01465	N	2.345310	1	0.08975	N	0.13	0.08652	N	2.83	0.10771	T	0.31	0.04022	N	0.027	0.02658	-0.9739	0.36366	T	0.010	0.03856	T	10	0.016755134	0.00354	T	0.00148	0.02267	T	0.010	0.01040	0.172	0.07774	0.0611884634855	0.05136	0.043932312831742495	0.04337	0.191270352614	0.21451	0.215560048819	0.01069	T	5.62E-4	0.00225	T	-0.602792	0.00140	T	-0.803321	0.01821	T	0.019605472911615	0.00663	T	0.439156	0.12095	T	0.024197774	0.01228	0.035871286	0.02922	0.024197774	0.01228	0.035871286	0.02921	-4.051	0.24564	T	.	.	0.082	0.13644	B	.;.	.;.	0.123578	0.05206	1.717	0.67357974443583246	0.08331	0.00269	0.01464	N	AEFBI	0.023803	0.01378	N	-1.7920109743045	0.00565	0.0243343	-1.85930131866678	0.00587	0.02608803	0.999605034635613	0.40866	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.57	-7.14	0.01374	-0.665000	0.05386	.	.	-0.393000	0.05333	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1356:0.5657:0.1367:0.162	5.161	0.14390	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2675.98	37	chr22	21635160	.	C	T	2675.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.315;DP=1204;ExcessHet=0.0000;FS=6.826;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=1.09;SOR=0.395	GT:AD:DP:GQ:PL	0/0:168,0:168:99:0,120,1800	20	0	1	0
chr22	21644159	21644159	G	A	exonic	SDF2L1	.	nonsynonymous SNV	SDF2L1:NM_022044:exon3:c.G650A:p.G217D,	.	.	427	1088	6	1	0	8	0.003663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.514	P	0.054	B	0.017	N	0.781	D	-0.455	N	-1.22	T	-0.778	T	0.116	T	0.499	1.431	10.73	3.58	1.140	1.954	12.649	0.313	0.0447191739502	0.0038	0.00159744	0.0027	0.0010	0.0013	0	0.0002	0.0044	0.0011	0.0004	0.0027684	428	154602	rs115168940	0.0038	0.0038	0.0039	0.0038	0.0073	0.0037	0.0037	0.0055	0.0049	0.0013	0.0014	0.0059	0	0.0005	0.0073	0.0045	0.0044	0.0005	0.0024	0.0024	0.0024	0.0025	0.0041	0.0022	0.0022	0.0037	0.0036	0.0008	0	0.0020	0.0049	0	0.0004	0.0034	0.0041	0.0024	0.0002	0.57	0.06184	T	0.681	0.06090	T	0.514	0.37393	P	0.054	0.25828	B	0.016671	0.27917	N	0.371241	0.781482	0.34272	D	1.59	0.40313	L	-1.22	0.78752	T	0.1	0.05810	N	0.266	0.30118	-0.7785	0.56387	T	0.116	0.40986	T	10	0.0073853135	0.00168	T	0.044719	0.61626	D	0.313	0.63482	.	.	0.765095103448	0.76294	0.6927252417250336	0.69212	0.726935891434	0.62541	0.406749486923	0.26007	T	0.009684	0.08804	T	-0.301714	0.08499	T	-0.204249	0.54243	T	0.0133324912370801	0.00240	T	0.620638	0.23835	T	0.1369972	0.31739	0.14080918	0.33553	0.1369972	0.31739	0.14080918	0.33552	-3.821	0.21119	T	.	.	0.099	0.16886	B	.	.	1.904878	0.24190	16.30	0.96348574672304754	0.29506	0.65494	0.32756	D	AEFDGBHCI	0.442773	0.50036	N	-0.60194394863958	0.18886	0.9841236	-0.526318390417999	0.21439	1.159821	0.999999999962908	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.630245	0.45026	0	0.735409	0.98432	0	.	.	4.62	3.58	0.40133	1.681000	0.37234	.	.	0.613000	0.49114	0.008000	0.17931	1.000000	0.68203	0.959000	0.51448	0.0:0.1674:0.8326:0.0	12.649	0.56113	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1899.98	33	chr22	21644159	.	G	A	1899.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.14;DP=815;ExcessHet=0.0000;FS=0.796;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.12;ReadPosRankSum=-8.740e-01;SOR=0.594	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr22	21867418	21867418	-	CCG	exonic	MAPK1	.	nonframeshift insertion	MAPK1:NM_002745:exon1:c.22_23insCGG:p.A7_G8insA	.	.	10	1488	21	0	3	24	0.00700701	.	.	1164574	MAPK1-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0052	0	0	0	0	0.0031	0	0.0147	0.0001153	3	26028	rs770506771	0.0044	0.0040	0.0042	0.0045	0.0455	0.0042	0.0042	0.0406	0.0388	0.0017	0.0455	0.0024	0.0007	0.0062	0.0063	0.0035	0.0055	0.0326	0.0084	0.0086	0.0070	0.0099	0.0416	0.0081	0.0079	0.0369	0.0351	0.0032	0.0220	0.0365	0.0035	0.0031	0.0082	0.0069	0.0037	0.0024	0.0416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1055.94	35	chr22	21867418	.	C	CCCG	1055.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.00;ReadPosRankSum=1.44;SOR=0.745	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1124	20	0	1	0
chr22	21931260	21931260	G	A	exonic	PPM1F	.	nonsynonymous SNV	PPM1F:NM_014634:exon6:c.C779T:p.A260V,	.	.	414	1103	5	0	0	5	0.00226142	.	.	2102869	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.57	T	0.058	B	0.047	B	0.053	N	1.000	N	1.135	L	2.15	T	-0.991	T	0.012	T	0.249	-0.943	0.355	0.412	0.090	1.555	8.611	0.024	.	0.0062	0.00559105	0.0019	0.0179	0.0010	0	0	0.0002	0	0.0013	0.0017723	274	154602	rs61730100	0.0007	0.0007	0.0008	0.0006	0.0205	0.0007	0.0007	0.0192	0.0187	0.0205	0.0010	3.826e-05	2.519e-05	0	0.0021	0.0001	0.0013	0.0010	0.0057	0.0057	0.0059	0.0054	0.0197	0.0054	0.0052	0.0186	0.0181	0.0197	0	0.0015	0	0	9.416e-05	0.0034	0.0002	0.0019	0.0010	0.642	0.07695	T	1.0	0.05128	T	0.033	0.21875	B	0.032	0.24832	B	0.052549	0.22884	N	0.483914	0.999976	0.18612	N	0.46	0.12951	N	2.15	0.19311	T	0.32	0.04947	N	0.39	0.43610	-0.9907	0.32424	T	0.012	0.04558	T	10	0.0197711	0.00446	T	.	.	.	0.024	0.04979	.	.	0.206339911435	0.20273	0.6877965058644088	0.68719	0.447591851173	0.44610	0.398638606071	0.24879	T	0.050338	0.28566	T	-0.570708	0.00219	T	-0.576964	0.14817	T	0.000742697406759907	0.00007	T	0.816218	0.47186	T	0.04270768	0.06527	0.046354506	0.06442	0.04270768	0.06526	0.046354506	0.06441	-8.311	0.63169	D	.	.	0.077	0.29477	B	.;.;.	.;.;.	1.434824	0.18534	13.79	0.22678516618858566	0.00923	0.19699	0.20761	N	AEFBI	0.096341	0.19451	N	-1.08975812718982	0.06830	0.3155714	-1.10676302781455	0.07570	0.3687422	0.989446278016989	0.31828	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.84	0.412	0.15614	1.709000	0.37528	.	.	-0.115000	0.14600	0.011000	0.18532	0.194000	0.23519	0.032000	0.13371	0.3655:0.0:0.6345:0.0	8.611	0.32965	698	0.58074	PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain;PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain;PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1404.98	35	chr22	21931260	.	G	A	1404.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.807;DP=801;ExcessHet=0.0000;FS=2.622;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.64;ReadPosRankSum=-3.500e-01;SOR=0.974	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1296	20	0	1	0
chr22	21934134	21934134	C	T	exonic	PPM1F	.	nonsynonymous SNV	PPM1F:NM_014634:exon4:c.G448A:p.A150T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.017	B	0.005	B	0.380	N	1.000	N	1.5	L	2.99	T	-1.053	T	0.070	T	0.063	0.350	5.899	-3.76	-0.301	-0.001	0.854	0.006	0.00733917400016	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1249477981	7.04e-07	1.368e-06	0	1.423e-06	2.613e-05	0	0	.	.	0	2.613e-05	0	0	0	0	0	0	0	6.569e-06	6.566e-06	1.284e-05	0	6.54e-05	0	0	.	.	0	0	6.54e-05	0	0	0	0	0	0	0	0.572	0.24277	T	0.407	0.28860	T	0.003	0.17573	B	0.004	0.11217	B	0.379581	0.04411	N	1.454990	1	0.08975	N	0.295	0.10161	N	2.46	0.45248	T	-0.14	0.09460	N	0.043	0.01577	-1.0528	0.13628	T	0.070	0.28511	T	10	0.055559754	0.06092	T	0.007339	0.19469	T	0.006	0.00375	0.397	0.42426	0.273938319068	0.27005	0.18713659789292705	0.18631	0.386554007323	0.39947	0.269347280264	0.06055	T	0.031882	0.22241	T	-0.337293	0.05578	T	-0.722275	0.04686	T	0.0444765004563131	0.04506	T	0.552645	0.19218	T	0.02615872	0.01637	0.031792752	0.01818	0.02615872	0.01637	0.031792752	0.01818	-4.833	0.34973	T	.	.	0.068	0.03266	B	.;.;.	.;.;.	0.138569	0.05329	1.817	0.93717001570586689	0.23638	0.02579	0.07130	N	AEFBI	0.030110	0.02969	N	-1.26542633939839	0.04099	0.1843789	-1.34395041733946	0.03877	0.1817827	0.99837965849836	0.36850	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.99	-3.76	0.04074	-0.718000	0.05083	.	.	-0.183000	0.09960	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1716:0.2208:0.2775:0.33	0.854	0.01104	698	0.58074	PPM-type phosphatase domain;PPM-type phosphatase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1653.98	36	chr22	21934134	.	C	T	1653.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.340e-01;DP=792;ExcessHet=0.0000;FS=1.600;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.60;ReadPosRankSum=-9.600e-02;SOR=0.947	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1444	20	0	1	0
chr22	21946008	21946008	C	G	exonic	PPM1F	.	nonsynonymous SNV	PPM1F:NM_014634:exon2:c.G41C:p.S14T,	.	.	421	1084	16	1	0	18	0.00823422	.	.	2134976	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.65	T	0.118	B	0.05	B	0.004	N	1.000	N	0	N	2.56	T	-1.018	T	0.027	T	0.067	-1.634	0.013	1.49	1.502	0.039	6.502	0.054	0.0257790969655	0.0008	0.000599042	0.0012	0	0.0003	0	0	0.0017	0.0012	0.0016	0.0011061	171	154602	rs139013152	0.0008	0.0008	0.0007	0.0009	0.0039	0.0008	0.0008	0.0027	0.0023	0.0001	0.0002	0.0174	2.567e-05	0	0.0039	0.0004	0.0018	0.0013	0.0008	0.0008	0.0008	0.0009	0.0010	0.0007	0.0007	0.0005	0.0005	2.405e-05	0	0.0005	0.0187	0	9.409e-05	0.0034	0.0007	0	0.0010	0.606	0.05668	T	0.63	0.07196	T	0.006	0.26577	B	0.009	0.25278	B	0.004481	0.01026	N	2.694200	1	0.08975	N	0	0.06538	N	2.56	0.22067	T	-0.45	0.14782	N	0.139	0.13769	-1.0178	0.24431	T	0.027	0.11574	T	10	0.0021249056	0.00031	T	0.025779	0.48731	D	0.054	0.15330	.	.	0.170165803431	0.16609	0.12335654753335572	0.12261	0.391337161651	0.40333	0.357301831245	0.18992	T	0.047883	0.27853	T	-0.616148	0.00116	T	-0.703382	0.05643	T	0.0107639225799415	0.00152	T	0.285571	0.05082	T	0.20939964	0.43205	0.046781745	0.06594	0.20939964	0.43205	0.046781745	0.06594	-4.452	0.30256	T	.	.	0.071	0.04558	B	.;.	.;.	0.719235	0.10881	7.556	0.7109853634938238	0.09515	0.03943	0.09341	N	AEFBHCI	0.044107	0.07055	N	-1.00542435511144	0.08490	0.3982985	-0.992517248170322	0.09952	0.4982417	0.999674215809566	0.41644	0.722319	0.85440	0	0.80507	0.99744	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	2.68	1.49	0.21966	0.228000	0.17594	.	.	0.547000	0.25779	0.000000	0.06391	0.001000	0.17328	0.077000	0.17074	0.1942:0.6142:0.1916:0.0	6.502	0.21371	698	0.58074	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	781.98	36	chr22	21946008	.	C	G	781.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=763;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.71;ReadPosRankSum=1.03;SOR=0.600	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1149	20	0	1	0
chr22	21957428	21957428	C	T	exonic	TOP3B	.	nonsynonymous SNV	TOP3B:NM_001282112:exon18:c.G2275A:p.E759K	.	.	448	1073	1	0	0	1	0.000465766	.	.	2822014	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.2	T	0.223	B	0.024	B	0.000	D	1.000	D	0.975	L	1.99	T	-1.100	T	0.042	T	0.437	3.055	16.20	4.56	2.350	5.802	17.527	0.109	0.0178152853586	.	0.000599042	0.0010	0.0016	0	0	0	0.0027	0	0	0.0001153	3	26028	rs561936553	0.0013	0.0013	0.0014	0.0013	0.0017	0.0013	0.0013	0.0016	0.0016	0.0002	0.0015	0.0001	2.803e-05	2.046e-05	0.0003	0.0017	0.0012	0	0.0011	0.0011	0.0012	0.0009	0.0020	0.0009	0.0009	0.0015	0.0014	0.0002	0	0.0020	0	0	0.0001	0	0.0018	0.0010	0	0.203	0.20154	T	0.337	0.18178	T	0.223	0.30377	B	0.024	0.20255	B	0.000003	0.62929	D	0.101878	1	0.81001	D	1.79	0.46772	L	1.99	0.21666	T	-2.78	0.58896	D	0.407	0.44761	-1.1003	0.04055	T	0.042	0.18076	T	10	0.021692932	0.00524	T	0.017815	0.39666	T	0.109	0.30843	.	.	0.742707857832	0.74039	0.5077489060083656	0.50696	2.09524790985	0.94767	0.711397528648	0.68795	T	0.349259	0.71713	T	-0.405678	0.02124	T	-0.368735	0.37035	T	0.0452197007834911	0.04643	T	0.930207	0.74183	D	0.28763476	0.51773	0.253975	0.51055	0.28763476	0.51773	0.253975	0.51054	-8.642	0.65365	D	.	.	0.401	0.61669	A	.;.	.;.	3.862925	0.56034	23.7	0.99785097048754734	0.87131	0.95003	0.63085	D	AEFGI	0.730157	0.67764	D	0.011107679053147	0.42361	2.550806	0.160970468898298	0.47727	2.998563	0.999999999997056	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	4.56	4.56	0.55644	5.875000	0.69407	.	.	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:1.0:0.0:0.0	17.527	0.87700	698	0.58074	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	412.98	41	chr22	21957428	.	C	T	412.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.419e+00;DP=694;ExcessHet=0.0000;FS=1.377;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=35.45;MQRankSum=0.219;QD=11.80;ReadPosRankSum=1.00;SOR=0.357	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1120	20	0	1	0
chr22	21962480	21962480	C	T	exonic	TOP3B	.	nonsynonymous SNV	TOP3B:NM_001282112:exon13:c.G1474A:p.D492N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.999	D	0.929	D	0.000	D	1.000	D	1.69	L	1.97	T	-1.017	T	0.119	T	0.192	4.392	23.2	5.12	2.368	5.693	18.560	0.232	0.0168176085784	7.7e-05	.	4.971e-05	0.0002	0	0	0	0	0	0.0002	3.88e-05	6	154602	rs139678669	3.079e-05	3.147e-05	2.587e-05	3.576e-05	0.0001	2.348e-05	2.095e-05	5.395e-05	4.042e-05	5.974e-05	0	0	2.519e-05	0	0	2.788e-05	3.312e-05	0.0001	7.222e-05	7.218e-05	5.14e-05	9.396e-05	9.62e-05	3.968e-05	3.125e-05	3.242e-05	1.91e-05	9.62e-05	0	6.534e-05	0	0	0	0	7.351e-05	0.0005	0	0.067	0.35918	T	0.222	0.25748	T	0.999	0.77913	D	0.929	0.66367	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.685	0.43254	L	1.97	0.22067	T	-3.72	0.70793	D	0.715	0.71854	-1.0174	0.24560	T	0.119	0.41604	T	10	0.785005	0.78171	D	0.016818	0.38254	T	0.232	0.53354	.	.	0.764601811582	0.76245	0.6864675046414583	0.68586	0.619345605956	0.56287	0.782431066036	0.79295	T	0.189051	0.54316	T	-0.336861	0.05609	T	-0.484985	0.23917	T	0.239473159368361	0.22395	T	0.940906	0.77861	D	0.61317044	0.73398	0.35776076	0.61265	0.61317044	0.73399	0.35776076	0.61264	-9.466	0.70647	D	.	.	0.163	0.36012	B	.;.	.;.	4.377929	0.67463	25.1	0.99888738592570692	0.96359	0.93630	0.58745	D	AEFDBCI	0.665521	0.63431	D	0.561717374471421	0.70798	5.554813	0.525867796676204	0.69737	5.403184	0.999999999999988	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.12	5.12	0.69459	5.772000	0.68543	.	.	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.293000	0.24333	0.0:1.0:0.0:0.0	18.560	0.91051	695	0.58372	DNA topoisomerase, type IA, central|DNA topoisomerase, type IA, DNA-binding domain|DNA topoisomerase, type IA, central;DNA topoisomerase, type IA, central|DNA topoisomerase, type IA, DNA-binding domain|DNA topoisomerase, type IA, central	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1944.98	34	chr22	21962480	.	C	T	1944.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.280e+00;DP=867;ExcessHet=0.0000;FS=0.593;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=0.963;SOR=0.634	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1254	20	0	1	0
chr22	22487798	22487798	G	C	exonic	ZNF280B	.	nonsynonymous SNV	ZNF280B:NM_080764:exon4:c.C1601G:p.S534C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.818	P	.	.	1.000	N	1.895	L	3.82	T	-1.020	T	0.023	T	0.238	0.716	7.813	2.78	0.780	0.424	3.837	0.039	0.0030527646211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.949e-07	6.84e-07	0	1.4e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	0.999889	0.19853	N	.	.	.	.	.	.	.	.	.	0.091	0.06990	-1.0195	0.23877	T	0.023	0.09787	T	9	0.1520851	0.28734	T	0.003053	0.06577	T	.	.	0.17	0.07536	0.385906861911	0.38208	0.22807110800338645	0.22722	.	.	0.342957347631	0.16880	T	.	.	.	-0.120324	0.33072	T	-0.410614	0.32155	T	0.404709994792938	0.29119	T	0.267373	0.04426	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10883	B	.;.	.;.	2.465133	0.31763	18.84	0.97509310026545626	0.34341	0.37201	0.25708	N	AEFBI	0.145464	0.26868	N	-0.119165972822987	0.36558	2.114805	-0.262285593244859	0.29352	1.643722	0.999861843256234	0.44398	0.651	0.46895	0	0.670034	0.63936	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	4.85	2.78	0.31702	0.642000	0.24426	.	.	-0.110000	0.15115	0.832000	0.30162	1.000000	0.68203	0.005000	0.06747	0.0883:0.1642:0.5776:0.1699	3.837	0.08410	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1062.98	35	chr22	22487798	.	G	C	1062.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.964e+00;DP=780;ExcessHet=0.0000;FS=2.915;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=0.768;SOR=0.434	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1264	20	0	1	0
chr22	22488805	22488805	A	C	exonic	ZNF280B	.	nonsynonymous SNV	ZNF280B:NM_080764:exon4:c.T594G:p.N198K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.001	B	0.002	B	.	.	1.000	N	0.55	N	1.92	T	-0.994	T	0.029	T	0.026	-1.195	0.075	-0.817	-0.351	0.154	1.752	0.066	0.00252688950903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.061	0.04307	-0.9942	0.31512	T	0.029	0.12409	T	9	0.05628407	0.06286	T	0.002527	0.05065	T	.	.	0.475	0.55182	0.0954503805726	0.09146	0.06166468175566257	0.06106	.	.	0.266985476017	0.05751	T	.	.	.	-0.336859	0.05609	T	-0.721651	0.04716	T	0.0755121106860529	0.09403	T	0.305869	0.05863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.14660	B	.;.	.;.	0.250540	0.06301	2.756	0.4548289947603445	0.03573	0.10114	0.15709	N	AEFBCI	0.091929	0.18615	N	-1.08875478264031	0.06849	0.3164875	-1.11981966354707	0.07322	0.3557024	0.99962066985609	0.41093	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	4.32	-0.817	0.10289	0.215000	0.17352	.	.	0.756000	0.94297	0.021000	0.19753	0.009000	0.19889	0.156000	0.20513	0.4114:0.3318:0.096:0.1608	1.752	0.02796	976	0.04745	Domain of unknown function DUF4195;Domain of unknown function DUF4195	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1758.98	38	chr22	22488805	.	A	C	1758.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.730e-01;DP=900;ExcessHet=0.0000;FS=0.590;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.93;ReadPosRankSum=-1.940e-01;SOR=0.616	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr22	22549858	22549858	G	A	exonic	PRAME	.	nonsynonymous SNV	PRAME:NM_001291719:exon3:c.C773T:p.S258F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.318	B	0.211	B	0.023	N	1.000	N	1.245	L	2.27	T	-1.044	T	0.034	T	0.242	1.319	10.33	2.67	1.123	3.002	7.193	0.033	0.00340503246116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.15047	T	0.097	0.39190	T	0.318	0.32936	B	0.211	0.37346	B	0.022812	0.26562	N	0.347372	1	0.08975	N	2.415	0.69758	M	2.27	0.17431	T	-2.83	0.59710	D	0.35	0.39457	-1.0438	0.16177	T	0.034	0.14464	T	10	0.41454202	0.56452	T	0.003405	0.07633	T	0.033	0.08068	0.383	0.40134	0.319402600006	0.31557	0.25225348519405855	0.25139	0.0402635391091	0.04312	0.324460357428	0.14096	T	0.057433	0.30565	T	-0.224051	0.17444	T	-0.55961	0.16414	T	0.511067450046539	0.33037	D	.	.	.	0.078254536	0.17809	0.113543175	0.27403	0.078254536	0.17809	0.113543175	0.27402	-4.578	0.31894	T	.	.	0.184	0.39881	B	.;.;.;.;.	.;.;.;.;.	1.843109	0.23417	16.01	0.94407243020543075	0.24803	0.20629	0.21111	N	AEFBHCI	0.174932	0.30208	N	-0.596352293358764	0.19055	0.9942928	-0.678389564387041	0.17501	0.9308996	0.999915293134154	0.45857	0.553676	0.25195	0	0.588015	0.36545	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	3.69	2.67	0.30756	2.172000	0.42090	0.445000	0.18464	0.618000	0.50648	0.032000	0.20554	0.000000	0.08366	0.003000	0.05239	0.1235:0.0:0.8765:0.0	7.193	0.25013	976	0.04745	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1371.98	37	chr22	22549858	.	G	A	1371.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.24;DP=806;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.86;ReadPosRankSum=-4.180e-01;SOR=0.723	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1150	20	0	1	0
chr22	22895477	22895477	C	T	exonic	IGLL5	.	nonsynonymous SNV	IGLL5:NM_001256296:exon2:c.C203T:p.P68L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.99	D	0.882	P	0.001	D	1.000	D	3.66	H	3.97	T	-1.098	T	0.049	T	0.631	2.199	13.31	2.42	1.034	3.293	8.992	0.178	0.0115912132995	7.7e-05	0.000199681	6.633e-05	0	8.685e-05	0.0002	0	7.532e-05	0	0	5.82e-05	9	154602	rs369208897	5.612e-05	5.814e-05	5.039e-05	6.191e-05	0.0045	4.612e-05	4.238e-05	0.0031	0.0027	8.964e-05	4.473e-05	3.832e-05	2.519e-05	7.488e-05	0.0045	3.418e-05	9.943e-05	2.32e-05	3.297e-05	3.288e-05	6.449e-05	0	4.418e-05	1.264e-05	8.01e-06	1.173e-05	6.25e-06	2.415e-05	0	0	0	0	0	0.0037	4.418e-05	0	0	0.012	0.54683	D	0.054	0.47097	T	0.99	0.63424	D	0.882	0.62632	P	0.000887	0.41231	D	0.109197	0.999997	0.81001	D	.	.	.	3.97	0.03326	T	-7.89	0.96166	D	0.563	0.58713	-1.0982	0.04315	T	0.049	0.20829	T	10	0.5641488	0.64955	D	0.011591	0.29367	T	0.178	0.44724	.	.	0.338834610459	0.33488	0.6843961620347288	0.68378	.	.	0.42956122756	0.29148	T	0.154698	0.69037	T	-0.209052	0.19513	T	-0.312364	0.43404	T	0.760242462158203	0.43865	D	0.780122	0.41468	T	0.20914157	0.43171	0.09844852	0.23471	0.20914157	0.43171	0.09844852	0.23470	-10.521	0.76967	D	.	.	0.845	0.79479	P	.;.	.;.	2.803943	0.36894	20.4	0.99294529298493506	0.58397	0.76838	0.37718	D	AEFBCI	0.476597	0.51994	N	0.260810716457428	0.54176	3.583831	0.052162361758481	0.42178	2.546551	0.997190921495129	0.35363	0.634777	0.41761	0	0.643519	0.57511	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	3.44	2.42	0.28720	4.369000	0.59282	0.457000	0.18579	-0.191000	0.09375	0.998000	0.41325	0.051000	0.21832	0.001000	0.02609	0.0:0.8889:0.0:0.1111	8.992	0.35194	988	0.01987	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1198.98	35	chr22	22895477	.	C	T	1198.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.58;DP=810;ExcessHet=0.0000;FS=4.111;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=0.985;SOR=1.210	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1292	20	0	1	0
chr22	23064102	23064102	A	C	exonic	RSPH14	.	nonsynonymous SNV	RSPH14:NM_014433:exon5:c.T453G:p.I151M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.894	P	0.437	B	0.074	N	1.000	D	1.545	L	0.58	T	-0.935	T	0.110	T	0.664	1.002	9.091	-4.8	-0.293	-0.087	5.558	0.194	0.0164377335648	.	.	.	.	.	.	.	.	.	.	.	.	.	rs771063525	6.84e-06	6.84e-06	6.806e-06	6.875e-06	8.993e-06	3.46e-06	2.52e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.993e-06	0	0	6.574e-06	6.567e-06	0	1.346e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.079	0.33753	T	0.003	0.76473	D	0.894	0.49185	P	0.437	0.45591	B	0.074229	0.21297	N	0.486343	0.999111	0.21609	N	.	.	.	0.58	0.54149	T	-1.82	0.42763	N	0.715	0.71765	-0.9347	0.43439	T	0.110	0.39604	T	10	0.65090376	0.69597	D	0.016438	0.37697	T	0.194	0.47447	0.424	0.46857	0.425028116352	0.42120	0.5302599891434673	0.52949	0.116427427619	0.13130	0.507088184357	0.39815	T	0.059642	0.31171	T	-0.00704144	0.50679	T	-0.247891	0.50025	T	0.231874987483025	0.22040	T	0.511749	0.16382	T	0.09900927	0.23360	0.113201596	0.27318	0.09900927	0.23360	0.113201596	0.27317	-5.882	0.45281	T	.	.	0.253	0.48797	B	.	.	1.757592	0.22356	15.59	0.95006149354772684	0.25972	0.25746	0.22790	N	AEFBI	0.092294	0.18687	N	-0.599684109683904	0.18954	0.9882542	-0.767199357852832	0.15301	0.8039939	0.98332538843277	0.30541	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.77	-4.8	0.02957	-0.066000	0.11556	0.196000	0.15798	-0.156000	0.11795	0.954000	0.33273	0.860000	0.27479	0.062000	0.16114	0.5842:0.0:0.2633:0.1525	5.558	0.16413	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	969.98	33	chr22	23064102	.	A	C	969.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=768;ExcessHet=0.0000;FS=4.671;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=-8.820e-01;SOR=1.288	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1183	20	0	1	0
chr22	23181282	23181282	C	G	exonic	BCR	.	nonsynonymous SNV	BCR:NM_004327:exon1:c.C322G:p.P108A	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	.	7	1514	1	0	0	1	0.000330142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.073	B	0.025	B	0.511	N	1.000	N	-0.345	N	1.75	T	-1.033	T	0.045	T	0.18	0.518	6.810	1.31	0.673	-0.084	6.656	0.020	0.0461994570136	.	0.000798722	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs559545244	3.835e-05	3.762e-05	2.864e-05	4.877e-05	0.0010	2.907e-05	2.589e-05	0.0008	0.0007	0	0	0	0	0	0.0003	3.158e-06	6.627e-05	0.0010	5.309e-05	5.911e-05	2.595e-05	8.151e-05	0.0014	2.58e-05	1.846e-05	0.0007	0.0005	0	0	0	0	0	0	0	1.48e-05	0	0.0014	0.333	0.13003	T	0.884	0.03187	T	0.0	0.24078	B	0.0	0.20508	B	0.511208	0.11842	N	0.701012	0.999999	0.08975	N	0	0.06538	N	1.75	0.26152	T	-0.71	0.20145	N	0.109	0.13341	-1.0332	0.19427	T	0.045	0.19518	T	10	0.014239937	0.00300	T	0.046199	0.62343	D	0.020	0.03691	0.21	0.12781	0.287411543184	0.28351	0.2868132457411079	0.28594	0.368995655372	0.38434	0.85022354126	0.89649	D	0.281988	0.65472	T	-0.466519	0.00894	T	-0.617756	0.11362	T	0.0244466765368134	0.01201	T	0.671933	0.28057	T	0.027759584	0.02015	0.026618484	0.00760	0.027759584	0.02015	0.026618484	0.00760	-2.628	0.06790	T	.	.	0.050	0.00179	B	.;.	.;.	0.758073	0.11276	7.904	0.71234117978622669	0.09560	0.07304	0.13325	N	AEFDBCI	0.027125	0.02158	N	-1.01955490498949	0.08199	0.3835662	-1.01821451102835	0.09385	0.4666041	0.999988806763752	0.51787	0.65757	0.49021	0	0.218748	0.04544	0	0.619478	0.44681	0	0.249971	0.05119	0	.	.	3.81	1.31	0.20837	0.034000	0.13663	0.052000	0.14014	-0.206000	0.08541	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1985:0.607:0.1945:0.0	6.656	0.22177	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1046.98	29	chr22	23181282	.	C	G	1046.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.700e-01;DP=678;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=31.73;ReadPosRankSum=0.507;SOR=0.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:65:.:.:0,65,1179	20	0	1	0
chr22	23289601	23289601	C	T	exonic	BCR	.	nonsynonymous SNV	BCR:NM_004327:exon13:c.C2687T:p.P896L	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.981	D	0.000	D	1.000	D	2.32	M	1.99	T	-0.906	T	0.146	T	0.819	4.916	28.4	4.78	2.576	7.515	17.667	0.408	0.0169641393081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1466337911	1.437e-05	1.436e-05	9.529e-06	1.925e-05	1.799e-05	9.23e-06	7.84e-06	1.175e-05	9.55e-06	0	0	0	0	0	0	1.799e-05	0	1.159e-05	2.659e-05	2.628e-05	2.599e-05	2.723e-05	4.973e-05	8.21e-06	5.19e-06	8.24e-06	3.08e-06	4.973e-05	0	0	0	0	0	0	2.949e-05	0	0	0.002	0.72154	D	0.019	0.76473	D	1.0	0.90584	D	0.96	0.75168	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.545	0.74286	M	1.99	0.21666	T	-6.24	0.90530	D	0.731	0.82458	-0.9062	0.47308	T	0.146	0.46967	T	10	0.80930173	0.80232	D	0.016964	0.38457	T	0.408	0.72022	0.517	0.61763	0.721023492657	0.71856	0.6418391899569057	0.64118	1.10889317795	0.77984	0.79745054245	0.81575	T	0.807372	0.95150	D	0.117854	0.66156	D	-0.0530009	0.66817	D	0.97802072763443	0.72124	D	0.997217	0.98907	D	0.528744	0.68759	0.4937954	0.70722	0.528744	0.68760	0.4937954	0.70722	-13.501	0.91321	D	.	.	0.551	0.75957	A	.;.	.;.	5.154308	0.86338	28.9	0.99910131427050253	0.97949	0.98003	0.78791	D	AEFGBCI	0.888463	0.82160	D	0.719044028158319	0.80881	7.393575	0.660886161375391	0.79425	7.079457	0.999999999999969	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.78	4.78	0.60666	7.614000	0.82196	7.456000	0.59008	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:1.0:0.0:0.0	17.667	0.88109	958	0.09170	C2 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1092.98	79	chr22	23289601	.	C	T	1092.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=1223;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.54;ReadPosRankSum=-3.410e-01;SOR=0.696	GT:AD:DP:GQ:PL	0/1:79,49:128:99:1107,0,1829	20	0	1	0
chr22	23311788	23311788	-	CCGG	exonic	BCR	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	.	25	583	905	9	0	923	0.441838	.	.	1196252	not_provided|Chronic_myelogenous_leukemia,_BCR-ABL1_positive	MedGen:C3661900|Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs372013175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	9572.82	36	chr22	23311788	.	T	TCCGG	9572.82	.	AC=16;AF=0.381;AN=42;BaseQRankSum=0.511;DP=1943;ExcessHet=20.9642;FS=19.140;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.381;MQ=55.14;MQRankSum=-7.359e+00;QD=5.78;ReadPosRankSum=0.550;SOR=1.916	GT:AD:DP:GQ:PL	0/1:90,16:106:99:401,0,3702	5	0	16	0
chr22	23311830	23311830	G	A	exonic	BCR	.	nonsynonymous SNV	BCR:NM_021574:exon18:c.G3184A:p.D1062N	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	.	59	994	464	5	0	474	0.192526	.	.	247185	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.986	D	0.771	P	0.000	D	1.000	D	1.13	L	2.66	T	-1.146	T	0.053	T	0.225	5.285	33	4.49	2.258	9.533	16.632	0.231	0.0272677260962	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879255379	3.426e-06	6.156e-06	5.454e-06	1.377e-06	2.994e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.994e-05	2.236e-05	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35726	T	0.018	0.59732	D	0.976	0.58310	D	0.752	0.56092	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.765	0.19305	N	2.66	0.12575	T	-3.28	0.65627	D	0.843	0.83885	-1.1463	0.01139	T	0.053	0.22423	T	10	0.81994617	0.81205	D	0.027268	0.50098	D	0.231	0.53208	.	.	0.600008996327	0.59681	0.3965005129848048	0.39565	2.73974519172	0.98685	0.815404891968	0.84322	D	0.308497	0.68058	T	-0.175721	0.24374	T	-0.490187	0.23372	T	0.916451156139374	0.57389	D	0.875712	0.89686	D	0.43747994	0.63240	0.3549618	0.61031	0.43747994	0.63240	0.3549618	0.61031	-6.831	0.53477	T	.	.	0.771	0.75988	P	.;.	.;.	5.927754	0.94089	33	0.99910446622876614	0.98022	0.98481	0.83233	D	AEFBI	0.912634	0.87354	D	0.533033419009816	0.69054	5.303049	0.562786706860508	0.72290	5.786788	0.9999990001556	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	9.664000	0.97881	6.611000	0.56088	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:1.0:0.0	16.632	0.84893	940	0.13648	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1509.16	36	chr22	23311830	.	G	A	1509.16	.	AC=9;AF=0.214;AN=42;BaseQRankSum=2.22;DP=1620;ExcessHet=4.7172;FS=18.276;InbreedingCoeff=-0.2741;MLEAC=9;MLEAF=0.214;MQ=57.72;MQRankSum=-8.970e+00;QD=1.86;ReadPosRankSum=-2.564e+00;SOR=2.383	GT:AD:DP:GQ:PL	0/1:87,9:96:27:27,0,2203	12	0	9	0
chr22	23573549	23573549	G	A	exonic	IGLL1	.	nonsynonymous SNV	IGLL1:NM_001369906:exon3:c.C362T:p.P121L	Agammaglobulinemia 2, Autosomal recessive	.	0	1510	12	0	0	12	0.00395778	.	.	705820	Agammaglobulinemia_2,_autosomal_recessive	MONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.89	P	0.708	P	0.142	N	1.000	D	.	.	3.97	T	-1.025	T	0.020	T	0.257	0.530	6.870	1.33	0.292	2.395	6.889	0.102	.	.	0.00299521	0.0013	0.0003	0.0004	0.0014	0.0002	0.0006	0.0022	0.0058	0.0012225	189	154602	rs142384414	0.0007	0.0009	0.0007	0.0008	0.0049	0.0007	0.0007	0.0046	0.0044	2.991e-05	0.0003	0.0027	0.0009	9.363e-05	0.0012	0.0004	0.0010	0.0049	0.0008	0.0020	0.0007	0.0009	0.0081	0.0007	0.0006	0.0061	0.0054	0.0005	0	0.0004	0.0047	0.0020	0	0	0.0004	0.0019	0.0081	0.215	0.19293	T	0.225	0.25514	T	0.89	0.48942	P	0.708	0.54437	P	0.142092	0.18255	N	0.497979	0.998223	0.81001	D	.	.	.	3.97	0.03326	T	-6.01	0.89648	D	0.07	0.04307	-1.0254	0.21952	T	0.020	0.08360	T	9	0.011942416	0.00259	T	.	.	.	0.102	0.29158	.	.	0.423360453849	0.41956	0.34562287531873404	0.34476	0.132112666368	0.14889	0.51163905859	0.40451	T	0.323887	0.69475	T	-0.564158	0.00240	T	-0.581508	0.14411	T	0.103484918279773	0.12736	T	0.620638	0.33984	T	0.14197707	0.32692	0.21564394	0.46162	0.2361661	0.46463	0.19622453	0.43341	-7.671	0.58806	D	0.15740038284871288	0.19004	0.115	0.23148	B	.;.	.;.	1.547524	0.19836	14.46	0.95635841881488604	0.27426	0.39159	0.26150	N	AEFGI	0.042258	0.06534	N	-0.172998474511538	0.34262	1.953501	-0.324661426207704	0.27304	1.514155	1.29750678801093E-4	0.05386	0.625279	0.40028	0	0.60822	0.50512	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.45	1.33	0.20958	1.070000	0.30265	0.541000	0.19334	-0.484000	0.05061	0.925000	0.32113	0.000000	0.08366	0.042000	0.14466	0.1752:0.0:0.8248:0.0	6.889	0.23399	880	0.29376	Immunoglobulin C1-set|Immunoglobulin-like domain;Immunoglobulin C1-set|Immunoglobulin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1405.98	34	chr22	23573549	.	G	A	1405.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=831;ExcessHet=0.0000;FS=0.762;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.08;MQRankSum=-3.371e+00;QD=13.26;ReadPosRankSum=-1.037e+00;SOR=0.566	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1370	20	0	1	0
chr22	23753059	23753059	A	C	exonic	VPREB3	.	nonsynonymous SNV	VPREB3:NM_013378:exon2:c.T189G:p.S63R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.238	B	0.092	B	0.002	N	1.000	N	1.17	L	-0.26	T	-1.060	T	0.115	T	0.421	1.979	12.57	-10.5	-1.958	-1.721	6.21	0.136	0.0319896287148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.29959	T	0.29	0.21011	T	0.238	0.30817	B	0.092	0.30031	B	0.001870	0.37789	N	0.121090	1	0.08975	N	1.265	0.31966	L	-0.26	0.67187	T	-2.47	0.63782	N	0.242	0.27316	-1.0602	0.11706	T	0.115	0.40808	T	10	0.07734409	0.12195	T	0.03199	0.53933	D	0.136	0.36778	0.36	0.36385	0.240491677333	0.23641	0.3801898794299111	0.37933	0.24597794071	0.27129	0.431323945522	0.29389	T	0.073785	0.34780	T	-0.0868907	0.38587	T	-0.362589	0.37753	T	0.273347198963165	0.23890	T	0.324268	0.16939	T	0.2537911	0.48403	0.15016705	0.35426	0.2537911	0.48403	0.15016705	0.35425	-5.11	0.38012	T	.	.	0.277	0.51059	B	.;.	.;.	0.767948	0.11380	7.992	0.89917504693577255	0.19217	0.03766	0.09079	N	AEFDGBHCI	0.065296	0.12728	N	-1.45302205996838	0.02193	0.09656487	-1.62356649322904	0.01518	0.06874839	0.999999999998034	0.74766	0.646311	0.45356	0	0.601644	0.50151	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.57	-10.5	0.00234	-1.811000	0.01822	-2.299000	0.03932	0.754000	0.88378	0.000000	0.06391	0.000000	0.08366	0.999000	0.91618	0.3927:0.1117:0.425:0.0705	6.21	0.19836	976	0.04745	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2045.98	34	chr22	23753059	.	A	C	2045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.285e+00;DP=872;ExcessHet=0.0000;FS=3.665;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=-1.318e+00;SOR=0.457	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1462	20	0	1	0
chr22	23753091	23753091	C	T	exonic	VPREB3	.	nonsynonymous SNV	VPREB3:NM_013378:exon2:c.G157A:p.G53S,	.	.	419	1100	3	0	0	3	0.00136178	.	.	2360617	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.4	T	1.0	D	0.996	D	0.174	N	1.000	N	0.65	N	-0.01	T	-0.886	T	0.206	T	0.378	2.309	13.68	-0.428	-0.101	1.801	5.119	0.176	0.0359924984112	0.0002	0.000199681	0.0004	0.0002	0	0	0	0.0001	0.0023	0.0023	0.0003234	50	154602	rs143409128	0.0002	0.0002	0.0001	0.0002	0.0015	0.0002	0.0002	0.0013	0.0012	0.0001	4.472e-05	0	0	0	0.0005	9.712e-05	0.0003	0.0015	0.0002	0.0002	0.0002	0.0001	0.0012	0.0001	8.717e-05	0.0005	0.0004	0.0001	0	6.541e-05	0	0	0	0	0.0001	0	0.0012	0.435	0.09401	T	0.417	0.14241	T	1.0	0.90584	D	0.996	0.84481	D	0.174058	0.17290	N	0.488214	1	0.08975	N	1.215	0.30540	L	-0.01	0.62762	T	-1.11	0.37178	N	0.568	0.59138	-0.8862	0.49257	T	0.206	0.56499	T	10	0.021933079	0.00535	T	0.035992	0.56708	D	0.176	0.44373	.	.	0.385743280973	0.38186	0.553284428901292	0.55254	0.196269210227	0.21979	0.517935812473	0.41335	T	0.049287	0.28264	T	-0.376014	0.03301	T	-0.326124	0.41899	T	0.0165835711559544	0.00419	T	0.0208979	0.01454	T	0.08395443	0.19409	0.06794681	0.14126	0.08395443	0.19409	0.06794681	0.14125	-3.101	0.11308	T	.	.	0.158	0.44345	B	.;.	.;.	3.889222	0.56581	23.8	0.95996680346787922	0.28403	0.14417	0.18392	N	AEFDGBHCI	0.174478	0.30161	N	-0.568387767822885	0.19911	1.045742	-0.745591131662381	0.15830	0.8345335	0.99997998095744	0.50053	0.646311	0.45356	0	0.601644	0.50151	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.57	-0.428	0.11693	1.959000	0.40036	3.109000	0.36352	0.597000	0.34315	0.004000	0.16614	0.986000	0.30841	0.549000	0.30150	0.2417:0.458:0.234:0.0662	5.119	0.14182	976	0.04745	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1747.98	34	chr22	23753091	.	C	T	1747.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.680e-01;DP=839;ExcessHet=0.0000;FS=1.490;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=-1.910e-01;SOR=0.552	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1462	20	0	1	0
chr22	23764319	23764319	G	A	exonic	C22orf15	.	nonsynonymous SNV	C22orf15:NM_001331041:exon3:c.G172A:p.E58K	.	.	414	1106	0	2	0	4	0.00180505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.996	D	0.986	D	.	.	1.000	N	2.125	M	0.98	T	-0.972	T	0.198	T	0.288	2.071	12.88	1.33	0.751	2.900	4.938	0.143	0.0221539628169	0.0015	0.00259585	0.0011	0.0052	0.0025	0	0	0.0012	0.0044	0	0.0004528	70	154602	rs143257161	0.0008	0.0008	0.0008	0.0008	0.0065	0.0007	0.0007	0.0048	0.0043	0.0018	0.0026	0.0006	0	0	0.0065	0.0007	0.0017	0	0.0016	0.0016	0.0016	0.0017	0.0050	0.0015	0.0014	0.0041	0.0037	0.0021	0	0.0050	0.0009	0	0	0.0136	0.0011	0.0019	0	0.024	0.91255	D	0.073	0.44905	T	0.988	0.62325	D	0.986	0.76916	D	.	.	.	.	1	0.08975	N	1.495	0.37439	L	0.98	0.42122	T	-1.79	0.49352	N	0.304	0.36148	-0.9718	0.36819	T	0.198	0.55386	T	9	0.007022232	0.00160	T	0.022154	0.45019	T	0.143	0.38195	.	.	0.472425863764	0.46869	0.27163925959978125	0.27076	0.314744633983	0.33755	.	.	.	0.014317	0.12210	T	-0.36039	0.04108	T	-0.292558	0.45506	T	0.0825853010575819	0.10315	T	0.654835	0.26514	T	0.15943135	0.35815	0.2091696	0.45250	0.15943135	0.35814	0.2091696	0.45249	-3.849	0.21538	T	.	.	0.097	0.21049	B	.;.;.	.;.;.	2.833927	0.37365	20.5	0.99799722751502729	0.88461	0.51720	0.28962	D	AEFBCI	0.138479	0.25979	N	0.0794739122981202	0.45506	2.805967	-0.132799806023403	0.34077	1.956202	0.999993815517202	0.74766	0.0	0.00013	3	0.405561	0.06353	1	0.584781	0.30282	0	0.631631	0.49550	0	.	.	3.45	1.33	0.20958	3.117000	0.50099	1.709000	0.28183	0.670000	0.69193	0.712000	0.28742	0.889000	0.27805	0.150000	0.20306	0.2821:0.0:0.7179:0.0	4.938	0.13299	976	0.04745	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1228.98	50	chr22	23764319	.	G	A	1228.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.548;DP=928;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.97;ReadPosRankSum=0.776;SOR=0.631	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1483	20	0	1	0
chr22	23765457	23765457	G	A	exonic	C22orf15	.	nonsynonymous SNV	C22orf15:NM_001376903:exon5:c.G421A:p.G141R,	.	.	425	1055	41	1	0	43	0.0199721	0.0388	0.148	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.989	D	.	.	1.000	N	.	.	.	.	-1.020	T	0.034	T	0.128	3.138	16.49	2.24	0.967	2.177	6.529	0.032	.	.	0.00439297	0.0133	0	0	0	0	0.0161	0.0096	0.0172	0.0025614	396	154602	rs118072813	0.0075	0.0072	0.0071	0.0080	0.0179	0.0074	0.0074	0.0165	0.0162	0.0009	0.0035	0.0204	0	0.0009	0.0179	0.0073	0.0083	0.0173	0.0049	0.0049	0.0050	0.0048	0.0159	0.0046	0.0045	0.0131	0.0120	0.0013	0.0088	0.0033	0.0210	0.0002	0.0003	0.0068	0.0068	0.0071	0.0159	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.989	0.78396	D	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	0.75	0.02007	N	0.185	0.20129	-1.0202	0.23649	T	0.034	0.14552	T	7	0.003980577	0.00077	T	0.005023	0.12690	T	0.123	0.34020	0.23	0.15705	0.180583059064	0.17676	.	.	.	.	.	.	.	.	.	.	-0.46172	0.00959	T	-0.421725	0.30877	T	0.0650722298416421	0.07942	T	0.520648	0.16939	T	.	.	.	.	.	.	.	.	-3.358	0.14497	T	.	.	0.169	0.37216	B	.	.	3.789766	0.54539	23.5	0.99848068375335886	0.92750	0.93845	0.59357	D	AEFDBHCI	0.264985	0.38221	N	-0.0526188822189248	0.39485	2.329274	-0.0561549082266573	0.37225	2.176699	0.99999999998708	0.74766	0.536635	0.22144	0	0.405561	0.06353	1	0.489635	0.07774	0	0.562822	0.20929	0	.	.	3.26	2.24	0.27264	2.197000	0.42329	1.175000	0.24653	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.1331:0.0:0.8669:0.0	6.529	0.21518	976	0.04745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1267.98	33	chr22	23765457	.	G	A	1267.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.000e-01;DP=840;ExcessHet=0.0000;FS=1.441;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=-3.200e-01;SOR=0.569	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1291	20	0	1	0
chr22	23958338	23958338	C	T	exonic	GSTT2;GSTT2B	.	nonsynonymous SNV	GSTT2:NM_000854:exon4:c.G472A:p.A158T	.	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.33	B	0.115	B	0.794	N	1.000	N	0.915	L	4.28	T	-1.011	T	0.022	T	0.062	0.397	6.154	-5.31	-0.813	-2.079	10.057	0.101	.	0.0068	0.00599042	0.0094	0.0253	0.0037	0	0.0135	0.0113	0.0060	0.0030	0.0002781	43	154602	rs149948097	0.0065	0.0068	0.0068	0.0063	0.0090	0.0064	0.0064	0.0081	0.0078	0.0090	0.0021	0.0007	0	0.0279	0.0011	0.0065	0.0061	0.0002	0.0071	0.0084	0.0068	0.0074	0.0084	0.0067	0.0066	0.0076	0.0073	0.0084	0	0.0038	0.0009	0	0.0218	0	0.0064	0.0050	0.0005	0.564	0.06302	T	0.351	0.17425	T	0.313	0.33247	B	0.115	0.31843	B	0.794466	0.09371	N	0.916126	1	0.08975	N	0.785	0.19527	N	4.28	0.22067	T	-1.04	0.28084	N	0.047	0.07125	-1.0109	0.26635	T	0.022	0.09238	T	10	0.018419117	0.00400	T	.	.	.	0.101	0.28911	.	.	0.117191471859	0.11215	0.37735749437460125	0.37650	1.77228400373	0.91296	0.392514586449	0.24024	T	0.012775	0.19713	T	-0.695009	0.00039	T	-0.760078	0.03110	T	0.00359359342600403	0.00038	T	0.470853	0.19007	T	0.058650117	0.11824	0.06100396	0.11710	0.058650117	0.11824	0.06100396	0.11709	-2.377	0.04994	T	.	.	0.104	0.18705	B	.;.	.;.	-0.409203	0.02178	0.214	0.83717660468827082	0.14881	0.00418	0.02065	N	AEFI	0.031839	0.03481	N	-1.03732728404825	0.07838	0.3655009	-1.14275050522622	0.06899	0.3336694	7.32570794475365E-5	0.04552	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	3.7	-5.31	0.02519	-2.891000	0.00777	-20.000000	0.00162	0.568000	0.28809	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.2875:0.0:0.7125	10.057	0.41423	946	0.12043	Glutathione S-transferase, C-terminal|Glutathione S-transferase, C-terminal-like|Glutathione S-transferase Theta, C-terminal;Glutathione S-transferase, C-terminal-like|Glutathione S-transferase Theta, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1464.98	34	chr22	23958338	.	C	T	1464.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.906e+00;DP=822;ExcessHet=0.0000;FS=1.833;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=35.03;MQRankSum=-2.255e+00;QD=12.01;ReadPosRankSum=0.418;SOR=0.479	GT:AD:DP:GQ:PL	0/1:60,62:122:99:1479,0,1518	20	0	1	0
chr22	24005337	24005337	A	G	exonic	GSTT4	.	nonsynonymous SNV	GSTT4:NM_001358664:exon1:c.T20C:p.M7T,	.	.	1048	473	1	0	0	1	0.00105597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs187966172	0.0024	0.0003	0	0.0035	0.0045	0.0006	0.0003	0.0012	0.0006	0	0	0	0	0	0	0.0045	0	0	0.0028	0.0029	0.0031	0.0025	0.0049	0.0026	0.0025	0.0044	0.0043	0.0007	0.0099	0.0014	0.0075	0	0.0002	0	0.0049	0.0043	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02337423	0.00610	T	.	.	.	.	.	.	.	.	.	0.42464368756574467	0.42381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.768323	0.39714	T	0.35330975	0.57323	0.55831456	0.74449	0.35330975	0.57323	0.55831456	0.74449	-5.644	0.43192	T	.	.	0.570	0.67652	P	.	.	3.573741	0.50344	22.9	0.83747012877705418	0.14897	0.86163	0.45392	D	AEFDGBI	.	.	.	.	.	.	.	.	.	0.98206085151097	0.30347	0.056701	0.00814	0	0.063388	0.01293	0	0.074216	0.02223	0	0.062806	0.01542	0	0.690956	0.42634	3.37	3.37	0.37692	7.378000	0.78957	8.462000	0.77247	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	1.0:0.0:0.0:0.0	8.784	0.33966	929	0.16858	Glutathione S-transferase, N-terminal|Glutathione S-transferase, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	121.63	1	chr22	24005337	.	A	G	121.63	.	AC=2;AF=0.059;AN=34;DP=152;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2695;MLEAC=2;MLEAF=0.059;MQ=60.00;QD=24.33;SOR=1.981	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,49	16	1	0	4
chr22	24085053	24085053	C	G	exonic	CABIN1	.	nonsynonymous SNV	CABIN1:NM_001201429:exon21:c.C3015G:p.N1005K	.	.	415	1090	17	0	0	17	0.00773782	.	.	3216554	CABIN1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.44	T	0.946	P	0.671	P	0.000	D	1.000	D	0.695	N	-1.03	T	-0.692	T	0.292	T	0.137	2.151	13.15	-1.44	-0.261	-0.427	11.630	0.285	.	0.0007	0.00299521	0.0021	9.623e-05	0.0003	0	0.0002	0.0013	0.0033	0.0096	0.0018823	291	154602	rs149291554	0.0012	0.0012	0.0009	0.0015	0.0086	0.0012	0.0012	0.0081	0.0079	0.0001	0.0003	0.0049	0	0.0003	0.0043	0.0007	0.0016	0.0086	0.0007	0.0007	0.0007	0.0008	0.0079	0.0006	0.0006	0.0059	0.0052	4.812e-05	0	0.0003	0.0037	0	0.0002	0.0034	0.0007	0.0009	0.0079	0.295	0.14743	T	0.24	0.24840	T	0.91	0.50240	P	0.47	0.46768	P	0.000003	0.62929	D	0.098174	0.998878	0.45601	D	1.1	0.28011	L	-1.03	0.76430	T	-1.11	0.28703	N	0.267	0.43514	-0.6923	0.60801	T	0.292	0.66345	T	10	0.008252561	0.00187	T	.	.	.	0.285	0.60338	0.368	0.37687	0.719921916295	0.71745	0.5819442926952952	0.58123	0.418019226632	0.42399	0.560295581818	0.47310	T	0.083363	0.37037	T	-0.474333	0.00799	T	-0.447725	0.27947	T	0.0683832950159575	0.08423	T	0.89971	0.67067	D	0.082710475	0.19066	0.09662498	0.22967	0.082710475	0.19066	0.09662498	0.22967	-6.924	0.53477	T	.	.	0.231	0.50781	B	.;.;.;.	.;.;.;.	0.650796	0.10190	6.933	0.98325968298412869	0.40290	0.52303	0.29100	D	AEFDBI	0.263079	0.38070	N	-0.474074403644843	0.22933	1.227963	-0.495736941329381	0.22272	1.208835	0.0138380704057729	0.12516	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.71	-1.44	0.08391	-0.428000	0.07059	-1.871000	0.04578	-0.831000	0.02872	0.276000	0.25103	0.000000	0.08366	0.969000	0.54022	0.0:0.4115:0.0:0.5885	11.630	0.50425	917	0.20147	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;.;Tetratricopeptide repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	936.98	34	chr22	24085053	.	C	G	936.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.242;DP=831;ExcessHet=0.0000;FS=0.750;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.19;ReadPosRankSum=-1.152e+00;SOR=0.793	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1331	20	0	1	0
chr22	24184196	24184196	A	G	exonic	SUSD2	.	nonsynonymous SNV	SUSD2:NM_019601:exon4:c.A500G:p.Q167R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.981	D	0.954	D	0.000	D	0.985	D	2.39	M	2.99	T	-1.110	T	0.073	T	0.726	3.059	16.21	3.66	1.680	5.404	10.627	0.248	0.0159881866537	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.0	0.92824	D	0.981	0.59675	D	0.954	0.69447	D	0.000000	0.84330	D	0.000000	0.98526	0.40259	D	3.1	0.87590	M	2.99	0.09262	T	-2.03	0.46673	N	0.827	0.82257	-1.1100	0.03070	T	0.073	0.29483	T	10	0.76971775	0.76984	D	0.015988	0.37021	T	0.248	0.55615	0.531	0.63855	0.318252033908	0.31440	0.9404017170496947	0.94021	0.757803639477	0.64090	0.532331466675	0.43363	T	0.04606	0.27311	T	0.0259974	0.55189	T	-0.200433	0.54606	T	0.964543879032135	0.66990	D	0.855414	0.54290	D	0.26278225	0.49341	0.26346824	0.52152	0.26278225	0.49341	0.26346824	0.52151	-4.037	0.24355	T	.	.	0.677	0.72014	P	.	.	4.053398	0.60094	24.2	0.99698774388286016	0.80453	0.96689	0.70415	D	AEFBI	0.768213	0.70384	D	0.414389128409707	0.62212	4.433595	0.290003101562571	0.54953	3.659138	0.999998116928616	0.74766	0.646311	0.45356	0	0.624146	0.53433	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	3.66	3.66	0.41111	4.390000	0.59409	11.053000	0.85327	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.086000	0.17578	1.0:0.0:0.0:0.0	10.627	0.44707	804	0.43891	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2577.98	36	chr22	24184196	.	A	G	2577.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.426e+00;DP=976;ExcessHet=0.0000;FS=2.414;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=-5.860e-01;SOR=0.798	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1193	20	0	1	0
chr22	24185243	24185243	C	T	exonic	SUSD2	.	nonsynonymous SNV	SUSD2:NM_019601:exon6:c.C932T:p.P311L,	.	.	418	1097	7	0	0	7	0.00318037	.	.	2326856	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.24	T	1.0	D	0.968	D	0.039	N	0.988	D	2.395	M	1.96	T	-1.006	T	0.119	T	0.308	3.180	16.64	3.24	2.111	1.242	10.818	0.198	0.0653877530997	0.0004	.	0.0002	0	0	0	0	0.0003	0	0.0004	0.0001746	27	154602	rs145501446	0.0003	0.0003	0.0003	0.0003	0.0009	0.0003	0.0003	0.0006	0.0005	5.984e-05	6.712e-05	0	0	2.059e-05	0.0009	0.0003	0.0003	0.0007	0.0002	0.0002	0.0002	0.0003	0.0004	0.0002	0.0001	0.0002	0.0002	7.215e-05	0	0.0002	0	0	0.0002	0	0.0003	0.0005	0.0004	0.067	0.35918	T	0.389	0.15554	T	1.0	0.90584	D	0.968	0.71741	D	0.038652	0.24261	N	0.433693	0.987999	0.40685	D	2.71	0.79292	M	1.96	0.22270	T	-3.77	0.71397	D	0.376	0.41754	-1.0059	0.28186	T	0.119	0.41648	T	10	0.16047597	0.30126	T	0.065388	0.69565	D	0.198	0.48105	.	.	0.244539031024	0.24083	0.538376691940279	0.53762	0.651268797409	0.58372	0.521308422089	0.41810	T	0.195896	0.55212	T	-0.415453	0.01830	T	-0.462282	0.26352	T	0.179287903234723	0.19190	T	0.886911	0.61435	D	0.12711023	0.29754	0.14060168	0.33510	0.12711023	0.29753	0.14060168	0.33509	-7.934	0.60620	D	.	.	0.093	0.14108	B	.	.	3.360606	0.46396	22.3	0.99825746064137599	0.90764	0.18888	0.20443	N	AEFDBI	0.094329	0.19074	N	0.25667014598375	0.53968	3.563818	0.121609456778492	0.45656	2.824939	0.954711500683552	0.28147	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.613276	0.41899	0	.	.	4.29	3.24	0.36257	0.394000	0.20559	2.528000	0.33154	0.595000	0.32841	0.000000	0.06391	0.980000	0.30356	0.489000	0.28769	0.0:0.8969:0.0:0.1031	10.818	0.45791	809	0.43032	AMOP domain|AMOP domain|AMOP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	927.98	36	chr22	24185243	.	C	T	927.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.99;DP=802;ExcessHet=0.0000;FS=1.936;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=-5.020e-01;SOR=0.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1225	20	0	1	0
chr22	24433568	24433568	T	C	exonic	ADORA2A	.	nonsynonymous SNV	ADORA2A:NM_000675:exon2:c.T164C:p.V55A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.979	D	0.000	D	1.000	D	2.67	M	2.13	T	0.277	D	0.580	D	0.893	4.169	21.6	4.53	1.904	5.968	13.195	0.499	0.0830473752764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.013	0.69154	D	0.999	0.77913	D	0.979	0.74454	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.775	0.80997	M	-0.85	0.74371	T	-3.92	0.74051	D	0.565	0.61172	0.277	0.87179	D	0.580	0.84894	D	10	0.85088205	0.84266	D	0.083047	0.74032	D	0.499	0.78288	0.687	0.82462	0.931330789539	0.93062	0.8840421059844702	0.88372	1.59320647565	0.88566	0.751576542854	0.74678	T	0.730753	0.92462	D	0.35894	0.87170	D	0.277816	0.87003	D	0.990996360778809	0.81240	D	0.948405	0.90777	D	0.81162053	0.84660	0.65176606	0.79622	0.81162053	0.84662	0.65176606	0.79623	-12.939	0.89110	D	.	.	0.757	0.90483	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.831069	0.55380	23.6	0.99779591742384233	0.86693	0.90378	0.51506	D	AEFGBCI	0.733525	0.67993	D	0.627913971391913	0.74947	6.220061	0.529782293350568	0.70004	5.441754	0.999999999991273	0.74766	0.653281	0.48532	0	0.672317	0.65289	0	0.723109	0.80598	0	0.669	0.65921	0	.	.	4.53	4.53	0.55009	6.111000	0.71222	7.817000	0.69620	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.282000	0.24066	0.0:0.0:0.0:1.0	13.195	0.59158	484	0.77165	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2633.98	34	chr22	24433568	.	T	C	2633.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=925;ExcessHet=0.0000;FS=2.949;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=-4.430e-01;SOR=0.897	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1239	20	0	1	0
chr22	24523618	24523618	G	A	splicing	UPB1	NM_016327:exon9:c.917-1G>A	.	.	Beta-ureidopropionase deficiency, Autosomal recessive	YES	0	1513	9	0	0	9	0.0029654	0.9999	0.94	439218	UPB1-related_disorder|Deficiency_of_beta-ureidopropionase|Inborn_genetic_diseases|not_provided	.|MONDO:MONDO:0013164,MedGen:C1291512,OMIM:613161,Orphanet:65287|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.141	13.12	5.54	2.606	9.583	18.468	.	.	0.0022	0.000399361	0.0019	0.0006	0.0004	0	0.0012	0.0029	0.0022	0.0011	0.0017658	273	154602	rs143493067	0.0019	0.0019	0.0019	0.0019	0.0022	0.0019	0.0018	0.0021	0.0021	0.0003	0.0006	0.0037	0	0.0021	0.0012	0.0022	0.0014	0.0008	0.0016	0.0017	0.0018	0.0015	0.0029	0.0015	0.0014	0.0026	0.0024	0.0004	0	0.0005	0.0049	0	0.0007	0	0.0029	0.0014	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303191	0.83221	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.163252	0.94702	34	0.99179398220485526	0.54643	0.99703	0.98807	D	AEFBI	.	.	.	1.10783014298156	0.98277	17.85154	0.918486039870524	0.96329	14.56562	0.999999999999898	0.74766	0.078448	0.01964	0	0.097471	0.02872	0	0.060301	0.00762	0	0.041896	0.00087	0	0.980806	0.86204	5.54	5.54	0.82907	9.745000	0.98071	11.596000	0.93440	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.119000	0.19126	0.0:0.0:1.0:0.0	18.468	0.90711	495	0.76383	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1941.98	34	chr22	24523618	.	G	A	1941.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.296;DP=862;ExcessHet=0.0000;FS=2.785;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=0.106;SOR=0.941	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,104,1346	20	0	1	0
chr22	24627492	24627492	G	C	exonic	GGT1	.	nonsynonymous SNV	GGT1:NM_001288833:exon12:c.G1081C:p.D361H	.	.	484	1028	10	0	0	10	0.00484027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.022	B	0.038	B	0.013	N	0.870	N	2.46	M	3.23	T	-1.047	T	0.007	T	0.307	0.477	6.591	-2.55	-0.295	0.359	8.953	0.074	0.00463185229169	.	.	0.0015	0.0004	0.0006	0.0028	0.0017	0.0012	0.0012	0.0030	2.59e-05	4	154602	rs138813205	0.0008	0.0080	0.0009	0.0008	0.0031	0.0008	0.0008	0.0027	0.0025	0.0003	0.0003	0.0002	0.0031	0.0006	0.0020	0.0008	0.0006	0.0011	0.0005	0.0037	0.0004	0.0005	0.0032	0.0004	0.0004	0.0020	0.0016	0.0002	0	0.0008	0.0006	0.0032	0.0005	0	0.0003	0.0010	0.0011	0.096	0.33585	T	0.083	0.41742	T	0.022	0.18677	B	0.038	0.23361	B	0.013305	0.28882	N	0.371845	0.870324	0.28217	N	2.555	0.74557	M	3.23	0.06931	T	-2.69	0.66206	D	0.264	0.30687	-1.0468	0.15303	T	0.007	0.02244	T	10	0.014272571	0.00300	T	0.004632	0.11472	T	0.074	0.21613	.	.	0.371018649785	0.36716	0.7177899153227354	0.73515	.	.	0.353228211403	0.18396	T	0.192802	0.54807	T	-0.52012	0.00439	T	-0.54452	0.17854	T	0.0244383726557327	0.01201	T	0.693531	0.31558	T	0.19034185	0.40614	0.17017967	0.39108	0.19034185	0.40614	0.17017967	0.39107	-4.089	0.72383	T	.	.	0.132	0.36811	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	0.222323	0.06044	2.487	0.86706646259638886	0.16718	0.15411	0.18898	N	AEFI	0.132405	0.25170	N	-0.929364960210129	0.10160	0.4841884	-1.08195479199769	0.08055	0.3944424	3.54104776859269E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	3.4	-2.55	0.05922	0.434000	0.21212	-0.246000	0.10547	0.597000	0.34315	0.070000	0.22072	0.000000	0.08366	0.279000	0.23992	0.6006:0.0:0.3994:0.0	8.953	0.34959	680	0.59965	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	288.98	36	chr22	24627492	.	G	C	288.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.780e-01;DP=1011;ExcessHet=0.0000;FS=4.875;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.21;MQRankSum=-5.521e+00;QD=1.61;ReadPosRankSum=3.33;SOR=0.411	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1180	20	0	1	0
chr22	24627898	24627898	A	G	exonic	GGT1	.	nonsynonymous SNV	GGT1:NM_001288833:exon13:c.A1255G:p.N419D	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.149	B	0.074	B	0.000	N	1.000	N	0.47	N	2.89	T	-0.937	T	0.013	T	0.295	-2.004	0.007	-3.18	-0.594	1.281	8.567	0.061	0.00363973413134	0.0009	0.00379393	0.0012	0.0061	0.0007	0.0071	0	0.0001	0	0.0003	0.0009989	26	26028	rs17004876	0.0005	0.0005	0.0005	0.0005	0.0073	0.0004	0.0004	0.0066	0.0064	0.0060	0.0005	0	0.0073	1.872e-05	0.0003	6.656e-05	0.0010	0.0003	0.0026	0.0028	0.0028	0.0025	0.0081	0.0024	0.0023	0.0074	0.0071	0.0081	0	0.0015	0	0.0054	0	0.0034	8.83e-05	0.0029	0	0.89	0.02483	T	0.888	0.06448	T	0.149	0.27956	B	0.074	0.28220	B	0.000176	0.48594	N	0.172979	0.999994	0.08975	N	0.47	0.13106	N	2.89	0.10196	T	-0.45	0.17003	N	0.353	0.40465	-0.9366	0.43149	T	0.013	0.04938	T	10	0.010259271	0.00229	T	0.00364	0.08371	T	0.061	0.17616	.	.	0.439549638156	0.43572	0.8400182295445812	0.86394	.	.	0.48791718483	0.37150	T	0.114018	0.43151	T	-0.562751	0.00244	T	-0.577404	0.14778	T	0.00255280886393019	0.00027	T	0.729427	0.34901	T	0.24275334	0.47206	0.099397965	0.23730	0.24275334	0.47206	0.099397965	0.23730	-3.596	0.29271	T	.	.	0.084	0.14888	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	0.574232	0.09426	6.207	0.27065330857495756	0.01326	0.01491	0.04950	N	AEFI	0.049952	0.08681	N	-1.38640666656415	0.02765	0.1225385	-1.40647122085421	0.03187	0.1481395	5.91386986300242E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	3.49	-3.18	0.04867	1.150000	0.31250	2.697000	0.34132	-0.213000	0.08312	0.781000	0.29485	0.998000	0.33993	0.890000	0.42831	0.4324:0.0:0.5676:0.0	8.567	0.32706	680	0.59965	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1053.98	83	chr22	24627898	.	A	G	1053.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=922;ExcessHet=0.0000;FS=0.700;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.19;MQRankSum=-1.530e+00;QD=8.78;ReadPosRankSum=0.965;SOR=0.800	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1279	20	0	1	0
chr22	24627937	24627937	G	A	exonic	GGT1	.	nonsynonymous SNV	GGT1:NM_001288833:exon13:c.G1294A:p.E432K	.	.	433	1083	6	0	0	6	0.00276243	.	.	2360504	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.92	T	0.037	B	0.028	B	0.045	N	1.000	N	0.385	N	3.17	T	-0.974	T	0.012	T	0.438	-0.683	1.026	-6.99	-1.261	0.080	23.385	0.152	0.00403397310393	0.0002	0.000199681	0.0002	0	0.0003	0	0	0.0002	0	0.0002	0.0001552	24	154602	rs373393964	0.0002	0.0002	0.0002	0.0002	0.0033	0.0002	0.0002	0.0022	0.0018	0.0002	0.0003	0.0020	0	0	0.0033	0.0001	0.0005	0.0001	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0001	8.897e-05	7.239e-05	0	0.0001	0.0032	0	0	0.0034	0.0002	0.0009	0.0004	0.863	0.07944	T	0.917	0.09690	T	0.037	0.20876	B	0.028	0.21332	B	0.045166	0.23564	N	0.426359	1	0.08975	N	0.895	0.22405	L	3.17	0.07599	T	-0.41	0.18248	N	0.223	0.29889	-0.9739	0.36366	T	0.012	0.04795	T	10	0.018870503	0.00415	T	0.004034	0.09587	T	0.152	0.39956	.	.	0.384263066157	0.38043	0.6398862231624227	0.71765	.	.	0.433632999659	0.29705	T	0.093958	0.39318	T	-0.429954	0.01483	T	-0.53341	0.18948	T	0.00456838542595506	0.00049	T	0.887111	0.91282	D	0.062326565	0.13004	0.08482113	0.19541	0.062326565	0.13004	0.08482113	0.19541	-7.922	0.68331	D	.	.	0.207	0.43380	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	0.290251	0.06665	3.167	0.53556412829521804	0.04963	0.31093	0.24250	N	AEFI	0.128163	0.24583	N	-1.88738320072913	0.00364	0.01566034	-1.94358236871232	0.00400	0.01770262	3.68476480225257E-4	0.06707	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	3.49	-6.99	0.01449	0.187000	0.16806	-0.213000	0.10835	-1.279000	0.01270	0.928000	0.32210	0.000000	0.08366	0.132000	0.19645	0.0:0.1584:0.8416:0.0	23.385	0.99983	680	0.59965	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1306.98	105	chr22	24627937	.	G	A	1306.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.470e-01;DP=1010;ExcessHet=0.0000;FS=2.203;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.83;MQRankSum=3.25;QD=9.75;ReadPosRankSum=0.744;SOR=0.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1279	20	0	1	0
chr22	24749735	24749735	G	A	exonic	PIWIL3	.	nonsynonymous SNV	PIWIL3:NM_001008496:exon10:c.C1174T:p.R392C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.997	D	0.915	D	0.951	U	1.000	N	1.1	L	2.95	T	-1.040	T	0.035	T	0.327	1.969	12.54	-3.34	-0.661	-0.126	1.490	0.082	0.00075509984271	.	.	3.297e-05	0	0	0	0	4.498e-05	0	6.06e-05	2.59e-05	4	154602	rs746127800	2.121e-05	2.326e-05	1.77e-05	2.475e-05	0.0002	1.52e-05	1.324e-05	4.579e-05	3.272e-05	0	2.236e-05	3.827e-05	0	0	0.0002	1.619e-05	3.312e-05	9.275e-05	6.594e-06	2.629e-05	0	1.349e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.044	0.41096	D	0.054	0.47097	T	0.996	0.70673	D	0.915	0.65091	D	0.950824	0.07655	U	1.038310	1	0.08975	N	0.805	0.20218	L	2.95	0.09635	T	-1.32	0.32991	N	0.17	0.18103	-1.0397	0.17404	T	0.035	0.15291	T	10	0.17070723	0.31749	T	7.55E-4	0.00529	T	0.082	0.23913	0.539	0.65018	0.473378105536	0.46967	0.14051864414911575	0.13974	0.159545513613	0.18006	0.234170407057	0.02290	T	0.006762	0.06189	T	-0.371035	0.03541	T	-0.589215	0.13734	T	0.0854482369230336	0.10669	T	0.659134	0.26825	T	0.113053456	0.26702	0.078731045	0.17660	0.113053456	0.26702	0.078731045	0.17659	-5.945	0.45816	T	.	.	0.213	0.54138	B	.;.;.;.	.;.;.;.	2.145291	0.27324	17.42	0.99419349903770238	0.63694	0.00815	0.03299	N	AEFDGBI	0.052582	0.09398	N	-0.809261582311681	0.13073	0.6415108	-1.06013515063973	0.08496	0.4180562	0.948100589546907	0.27784	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	2.29	-3.34	0.04635	-0.051000	0.11840	-0.046000	0.12607	-0.305000	0.06155	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1211:0.3248:0.2264:0.3277	1.490	0.02305	483	0.77230	PAZ domain|PAZ domain|PAZ domain;PAZ domain|PAZ domain|PAZ domain;PAZ domain|PAZ domain|PAZ domain;PAZ domain|PAZ domain|PAZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1882.98	36	chr22	24749735	.	G	A	1882.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.600e-01;DP=971;ExcessHet=0.0000;FS=3.369;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.31;ReadPosRankSum=-3.180e-01;SOR=0.754	GT:AD:DP:GQ:PL	0/0:71,0:71:99:0,120,1800	20	0	1	0
chr22	24756651	24756651	C	T	exonic	PIWIL3	.	nonsynonymous SNV	PIWIL3:NM_001008496:exon5:c.G410A:p.R137H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.944	P	0.286	B	0.000	U	1.000	N	1.47	L	2.85	T	-0.994	T	0.013	T	0.156	0.946	8.858	-2.07	-0.419	0.142	7.270	0.097	0.0012204371444	0.0015	0.00199681	0.0005	0.0045	0.0006	0	0	4.583e-05	0	0.0002	0.0005304	82	154602	rs113771741	0.0002	0.0002	0.0002	0.0002	0.0051	0.0002	0.0002	0.0045	0.0042	0.0051	0.0005	0	0	1.872e-05	0.0016	2.158e-05	0.0010	0.0002	0.0012	0.0012	0.0013	0.0012	0.0042	0.0011	0.0010	0.0037	0.0035	0.0042	0	0.0003	0	0	0	0.0034	5.88e-05	0	0.0006	0.117	0.28271	T	0.187	0.29442	T	0.944	0.53183	P	0.225	0.40541	B	0.000014	0.62929	U	0.066862	1	0.08975	N	1.265	0.31966	L	2.85	0.10578	T	-2.37	0.52289	N	0.138	0.16447	-0.9941	0.31538	T	0.013	0.05225	T	10	0.0068090856	0.00155	T	0.00122	0.01608	T	0.097	0.27909	.	.	0.235038932564	0.23097	0.14761343979150873	0.14683	0.136378532373	0.15383	0.216807514429	0.01134	T	0.013877	0.11917	T	-0.6232	0.00105	T	-0.668105	0.07731	T	0.0240667232965221	0.01153	T	0.813419	0.48908	T	0.044617757	0.07163	0.0414295	0.04708	0.044617757	0.07162	0.0414295	0.04707	-4.624	0.32472	T	.	.	0.087	0.17869	B	.;.;.;.	.;.;.;.	-0.099367	0.03644	0.727	0.97294521605952511	0.33247	0.00811	0.03288	N	AEFGBI	0.033934	0.04114	N	-1.02270438670669	0.08133	0.3803277	-1.21443549091675	0.05677	0.2711808	0.436676136395559	0.20418	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.51	-2.07	0.06873	0.284000	0.18624	-5.148000	0.01830	-0.286000	0.06345	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5099:0.0:0.4901	7.270	0.25429	483	0.77230	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1466.98	33	chr22	24756651	.	C	T	1466.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=806;ExcessHet=0.0000;FS=2.651;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.67;ReadPosRankSum=-1.520e-01;SOR=0.976	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1103	20	0	1	0
chr22	24850296	24850296	G	T	exonic	SGSM1	.	nonsynonymous SNV	SGSM1:NM_001039948:exon5:c.G319T:p.G107C	.	.	429	1092	1	0	0	1	0.000457666	.	.	3321666	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.24	T	0.998	D	0.924	D	0.001	D	0.998	D	1.175	L	3.19	T	-1.133	T	0.040	T	0.581	3.042	16.15	4.83	2.406	4.924	12.822	0.126	0.0111671898549	.	.	0.0004	0	0.0015	0	0	0.0001	0	0.0015	0.0001423	22	154602	rs753571655	7.241e-05	7.182e-05	3.015e-05	0.0001	0.0010	6.096e-05	5.64e-05	0.0008	0.0007	0	0	0	2.542e-05	3.782e-05	0.0003	1.265e-05	6.661e-05	0.0010	3.284e-05	3.281e-05	1.285e-05	5.374e-05	0.0004	1.261e-05	7.98e-06	7.299e-05	3.032e-05	2.408e-05	0	0	0	0	0	0	1.47e-05	0.0005	0.0004	0.096	0.31088	T	0.021	0.58089	D	0.995	0.67487	D	0.875	0.62107	P	0.000714	0.42254	D	0.277928	0.997711	0.44125	D	1.445	0.36358	L	3.18	0.07478	T	-3.66	0.70067	D	0.475	0.54932	-1.1333	0.01631	T	0.040	0.17020	T	10	0.07475853	0.11469	T	0.011167	0.28518	T	0.126	0.34673	.	.	0.134007934775	0.12933	0.25874791881798914	0.25788	0.827829513306	0.67493	0.614989459515	0.55021	T	0.156698	0.49898	T	-0.392001	0.02611	T	-0.38141	0.35558	T	0.398358434438705	0.28880	T	0.920308	0.71149	D	0.41289356	0.61616	0.19267693	0.42795	0.41289356	0.61616	0.19267693	0.42794	-10.131	0.74692	D	.	.	0.095	0.15025	B	.;.;.	.;.;.	4.944325	0.81627	27.6	0.99500636450357283	0.68031	0.93046	0.57190	D	AEFDGBHCI	0.740381	0.68465	D	0.520036284163764	0.68275	5.194874	0.532539922158305	0.70194	5.469205	0.999829409451298	0.43622	0.65861	0.49226	0	0.596394	0.48810	0	0.596874	0.31795	0	0.345915	0.05782	2	.	.	4.83	4.83	0.61880	5.002000	0.63701	9.622000	0.81108	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0823:0.0:0.9177:0.0	12.822	0.57083	593	0.68665	RUN domain|RUN domain;.;RUN domain|RUN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1468.98	36	chr22	24850296	.	G	T	1468.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.858;DP=838;ExcessHet=0.0000;FS=4.452;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=-1.207e+00;SOR=1.112	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1242	20	0	1	0
chr22	24868855	24868855	G	A	exonic	SGSM1	.	nonsynonymous SNV	SGSM1:NM_001039948:exon12:c.G1291A:p.V431I	.	.	.	.	.	.	.	.	.	0.9997	0.988	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.954	P	0.454	P	0.001	N	1.000	D	1.385	L	3.2	T	-1.085	T	0.027	T	0.29	1.945	12.46	5.05	2.519	4.940	15.530	0.062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1428375094	6.843e-07	6.84e-07	0	1.376e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.539	0.10714	T	0.511	0.37337	P	0.066	0.27432	B	0.001047	0.40475	N	0.243590	1	0.81001	D	.	.	.	3.29	0.06445	T	-0.13	0.08971	N	0.365	0.40665	-1.0853	0.06353	T	0.027	0.11441	T	10	0.19673869	0.35578	T	0.044757	0.61646	D	0.130	0.35528	0.134	0.03833	0.202312658747	0.19855	0.10247152060561264	0.10177	0.195110510202	0.21846	0.571562886238	0.48899	T	0.00836	0.07680	T	-0.237713	0.15641	T	-0.579235	0.14613	T	0.794788122177124	0.46004	D	0.660634	0.26999	T	0.059132017	0.11982	0.04944427	0.07557	0.059132017	0.11982	0.04944427	0.07557	-3.962	0.23233	T	.	.	0.122	0.25298	B	.;.	.;.	5.135638	0.85965	28.8	0.98935050023063664	0.48826	0.96540	0.69650	D	AEFDBI	0.663171	0.63278	D	0.139985658066367	0.48338	3.047353	0.226901118697597	0.51347	3.317883	0.99999998787568	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.05	5.05	0.67566	5.081000	0.64274	8.226000	0.76832	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.607000	0.31564	0.0:0.0:1.0:0.0	15.530	0.75692	597	0.68309	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1127.98	35	chr22	24868855	.	G	A	1127.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.464;DP=817;ExcessHet=0.0000;FS=0.769;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=1.00;SOR=0.825	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1425	20	0	1	0
chr22	25032673	25032673	T	C	exonic	KIAA1671	.	nonsynonymous SNV	KIAA1671:NM_001145206:exon2:c.T1606C:p.F536L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.597	N	1.000	N	-0.895	N	.	.	-1.009	T	0.028	T	0.054	0.347	5.884	0.236	0.236	0.134	7.689	0.026	0.00257660700909	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374627169	3.802e-05	3.694e-05	2.545e-05	5.097e-05	0.0012	2.965e-05	2.689e-05	0.0009	0.0008	0.0012	0	0	0	0	0.0005	1.861e-06	0.0002	0	0.0002	0.0002	9.005e-05	0.0002	0.0006	0.0001	9.707e-05	0.0004	0.0004	0.0006	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.596781	0.05623	N	1.230860	1	0.08975	N	-0.75	0.01730	N	.	.	.	1.61	0.00644	N	0.091	0.07949	-1.0087	0.27323	T	0.028	0.12103	T	9	0.016078085	0.00338	T	0.002577	0.05206	T	0.026	0.05648	0.127	0.03251	0.0297737177859	0.01360	0.023305093440187014	0.02282	.	.	0.313085228205	0.12373	T	9.64E-4	0.00509	T	-0.338166	0.05516	T	-0.723529	0.04627	T	0.0196572695844929	0.00668	T	0.294771	0.05441	T	0.054676637	0.10523	0.04878288	0.07318	0.054676637	0.10522	0.04878288	0.07318	-1.861	0.02697	T	.	.	0.200	0.48082	B	.;.	.;.	0.361811	0.07345	3.961	0.45241798105238606	0.03536	0.00416	0.02058	N	AEFBI	0.023308	0.01281	N	-1.45616240199449	0.02168	0.09547025	-1.34491495425394	0.03866	0.1812157	0.0569979216602982	0.15076	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.98	0.236	0.14733	0.135000	0.15775	0.289000	0.16851	-0.876000	0.02500	0.034000	0.20669	0.007000	0.19602	0.146000	0.20164	0.0:0.6466:0.0:0.3534	7.689	0.27720	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1443.98	36	chr22	25032673	.	T	C	1443.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.23;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.01;ReadPosRankSum=-3.110e-01;SOR=0.688	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1262	20	0	1	0
chr22	25205316	25205316	C	T	exonic	CRYBB3	.	nonsynonymous SNV	CRYBB3:NM_004076:exon5:c.C424T:p.H142Y,	Cataract 22, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.003	B	0.032	B	0.000	D	1.000	D	0.33	N	-0.84	T	-0.821	T	0.217	T	0.447	1.692	11.62	5.2	2.423	4.198	17.303	0.178	0.0384985558967	7.7e-05	.	4.135e-05	0.0003	0	0	0	1.503e-05	0	6.101e-05	3.88e-05	6	154602	rs367987690	1.231e-05	1.231e-05	6.806e-06	1.788e-05	0.0001	7.7e-06	6.35e-06	6.246e-05	4.757e-05	2.987e-05	0	0	0	0	0	4.496e-06	3.312e-05	0.0001	1.972e-05	1.97e-05	2.57e-05	1.346e-05	7.246e-05	5.24e-06	2.45e-06	1.921e-05	1.032e-05	7.246e-05	0	0	0	0	0	0	0	0	0	0.712	0.04020	T	0.977	0.02440	T	0.003	0.11197	B	0.032	0.22131	B	0.000071	0.52346	D	0.166816	0.999979	0.81001	D	0.31	0.10265	N	-0.84	0.74265	T	-1.61	0.38734	N	0.486	0.52029	-0.8213	0.53852	T	0.217	0.57889	T	10	0.22823018	0.39722	T	0.038499	0.58257	D	0.178	0.44724	.	.	0.747191721737	0.74491	0.5724628390700662	0.57174	0.186666295219	0.20973	0.692737162113	0.66099	T	0.027877	0.20317	T	-0.20379	0.20259	T	-0.251072	0.49712	T	0.117280386388302	0.14161	T	0.835916	0.50694	T	0.6575739	0.75769	0.45411414	0.68257	0.6575739	0.75770	0.45411414	0.68257	-2.384	0.05035	T	0.0774174358338645	0.03625	0.109	0.20663	B	.	.	2.787704	0.36639	20.3	0.97376031086558335	0.33647	0.91429	0.53515	D	AEFDI	0.514565	0.54188	D	-0.23924542900263	0.31536	1.769223	-0.0210156757449827	0.38766	2.288766	0.991230435931694	0.32418	0.614807	0.35715	0	0.573888	0.26702	0	0.616094	0.41390	0	0.491896	0.07777	0	.	.	5.2	5.2	0.71720	4.284000	0.58776	1.326000	0.25636	0.596000	0.33519	1.000000	0.71638	0.736000	0.26449	0.998000	0.85391	0.0:1.0:0.0:0.0	17.303	0.87074	964	0.07719	Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1741.98	39	chr22	25205316	.	C	T	1741.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.623e+00;DP=1008;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.17;ReadPosRankSum=-7.320e-01;SOR=0.719	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chr22	25768225	25768225	C	G	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon4:c.C309G:p.D103E	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	.	419	1101	2	0	0	2	0.000907441	.	.	705844	MYO18B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.009	B	0.007	B	0.258	N	1.000	N	1.61	L	-2.11	D	-0.656	T	0.364	T	0.048	2.626	14.74	2.37	0.517	1.558	4.829	0.171	0.0263158722234	0.0021	0.00279553	0.0009	0.0074	0.0010	0	0	8.998e-05	0	0.0010	0.0008473	131	154602	rs150178966	0.0004	0.0004	0.0003	0.0004	0.0079	0.0003	0.0003	0.0071	0.0068	0.0079	0.0008	0	0	0	0.0024	4.227e-05	0.0009	0.0013	0.0024	0.0025	0.0024	0.0026	0.0080	0.0022	0.0022	0.0073	0.0070	0.0080	0	0.0008	0	0.0002	0	0.0102	0.0001	0.0028	0.0021	0.043	0.41364	D	0.086	0.40909	T	.	.	.	.	.	.	0.257985	0.03690	N	1.639400	1	0.08975	N	1.445	0.36358	L	-2.11	0.86349	D	-1.16	0.29727	N	0.058	0.03841	-0.6564	0.62434	T	0.364	0.72483	T	10	0.0070002973	0.00159	T	0.026316	0.49235	D	0.171	0.43483	0.166	0.07071	0.755189103478	0.75297	0.043061597864696446	0.04251	0.062289322128	0.06933	0.231429502368	0.02076	T	0.042604	0.26236	T	-0.484182	0.00700	T	-0.462579	0.26319	T	0.0108560101696592	0.00155	T	0.354665	0.08016	T	0.052090917	0.09665	0.056575067	0.10134	0.041593164	0.06155	0.054216452	0.09283	-2.579	0.06367	T	.	.	0.119	0.30920	B	.;.;.	.;.;.	1.188587	0.15795	12.11	0.98764427946630684	0.45862	0.65878	0.32886	D	AEFGBI	0.111404	0.22057	N	-0.495736740219008	0.22219	1.184921	-0.469944864808118	0.22987	1.251273	0.998517494627117	0.37109	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.51	2.37	0.28337	1.520000	0.35506	0.964000	0.23011	-0.231000	0.07715	0.999000	0.42656	0.031000	0.21272	0.004000	0.06068	0.0:0.6286:0.176:0.1954	4.829	0.12794	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1836.98	40	chr22	25768225	.	C	G	1836.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.170e-01;DP=1173;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=-1.501e+00;SOR=0.721	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	20	0	1	0
chr22	25780133	25780133	C	T	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon9:c.C2146T:p.R716W	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1397723	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	0.998	D	3.76	H	-1.89	D	0.894	D	0.827	D	0.83	3.110	16.39	4.34	1.222	6.940	14.389	0.799	0.154461098904	7.9e-05	0.000199681	0.0002	0.0005	0	0	0	0.0002	0	0	7.76e-05	12	154602	rs370669904	5.093e-05	5.267e-05	4.923e-05	5.264e-05	0.0002	4.15e-05	3.801e-05	5.869e-05	3.836e-05	0.0001	0	3.858e-05	0	7.718e-05	0.0002	5.321e-05	3.327e-05	2.375e-05	0.0001	0.0001	0.0001	0.0001	0.0002	7.086e-05	5.743e-05	0.0001	7.895e-05	7.216e-05	0	0	0	0	9.416e-05	0	0.0002	0	0.0002	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.998041	0.44449	D	3.915	0.96218	H	-1.89	0.84557	D	-7.43	0.94843	D	0.838	0.83371	0.894	0.95595	D	0.827	0.94182	D	10	0.9441782	0.93742	D	0.154461	0.83556	D	0.799	0.93425	.	.	0.955550462803	0.95507	0.8718411209313582	0.87150	0.404533126254	0.41354	0.5344581604	0.43662	T	0.747465	0.93053	D	0.0544266	0.58911	T	0.206846	0.83497	D	0.996365427970886	0.89195	D	0.905809	0.66782	D	0.8853832	0.90115	0.8853867	0.93940	0.8853832	0.90116	0.8853867	0.93941	-7.139	0.55042	T	.	.	0.171	0.37633	B	.;.;.	.;.;.	4.272444	0.65018	24.8	0.99913464179132916	0.98238	0.98236	0.80802	D	AEFDGBI	0.893839	0.83220	D	0.707277734250519	0.80110	7.222172	0.546285370381238	0.71138	5.609577	0.999999584552859	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.38	4.34	0.51267	3.898000	0.55993	1.364000	0.25903	0.599000	0.40250	0.998000	0.41325	0.964000	0.29435	0.443000	0.27738	0.1486:0.8514:0.0:0.0	14.389	0.66530	982	0.03397	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XVIII myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XVIII myosin, motor domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	659.98	33	chr22	25780133	.	C	T	659.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.22;DP=747;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.22;ReadPosRankSum=-3.720e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1091	20	0	1	0
chr22	25847599	25847599	G	T	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon20:c.G3725T:p.R1242M	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.983	D	0.000	D	0.999	D	1.785	L	-0.65	T	-0.095	T	0.461	T	0.744	3.134	16.48	4.31	2.239	8.495	14.324	0.639	0.106748524948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.983	0.75793	D	0.000001	0.62929	D	0.063987	0.998644	0.45212	D	2.445	0.70938	M	-0.65	0.72237	T	-5.41	0.85176	D	0.749	0.74826	-0.0954	0.80204	T	0.461	0.79072	T	10	0.84603167	0.83769	D	0.106749	0.78250	D	0.639	0.86232	0.621	0.75576	0.885320208482	0.88419	0.7251390482006312	0.72457	0.414985916362	0.42166	0.691229403019	0.65883	T	0.434483	0.78155	T	0.189185	0.72889	D	0.0339745	0.72536	D	0.997551739215851	0.91838	D	0.827517	0.49142	T	0.48127577	0.65977	0.49162596	0.70592	0.48127577	0.65978	0.49162596	0.70593	-11.707	0.83542	D	.	.	0.707	0.74506	P	.;.;.	.;.;.	4.731979	0.76230	26.5	0.96485367578746417	0.29988	0.98937	0.88877	D	AEFGBI	0.927730	0.91084	D	0.604848308893051	0.73481	5.973093	0.53961812295528	0.70680	5.54067	0.999999620326677	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.31	4.31	0.50718	8.898000	0.92168	11.851000	0.98077	0.657000	0.54293	1.000000	0.71638	1.000000	0.68203	0.797000	0.37605	0.0:0.0:1.0:0.0	14.324	0.66067	976	0.04745	Myosin head, motor domain|Myosin head, motor domain|Class XVIII myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Class XVIII myosin, motor domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1362.98	33	chr22	25847599	.	G	T	1362.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.121;DP=802;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.66;ReadPosRankSum=0.123;SOR=0.733	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1098	20	0	1	0
chr22	25890783	25890783	G	A	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon26:c.G4345A:p.D1449N	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	.	413	1108	1	0	0	1	0.00045106	.	.	1487857	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	0.993	D	2.365	M	-2.26	D	0.726	D	0.792	D	0.065	3.857	19.59	5.64	2.663	7.972	17.203	0.501	0.0768480889855	0.0003	.	0.0005	0.0001	0.0003	0.0003	0	0.0005	0	0.0010	0.0004722	73	154602	rs202224239	0.0005	0.0005	0.0005	0.0005	0.0011	0.0005	0.0005	0.0010	0.0009	5.974e-05	0.0002	0	0.0002	9.365e-05	0.0005	0.0005	0.0004	0.0011	0.0003	0.0003	0.0002	0.0004	0.0006	0.0002	0.0002	0.0004	0.0004	4.828e-05	0	0	0	0.0002	9.423e-05	0	0.0006	0.0005	0.0006	0.002	0.72154	D	0.007	0.69154	D	1.0	0.90584	D	0.999	0.92359	D	0.000010	0.62929	D	0.064020	0.993366	0.41917	D	3.34	0.90961	M	-2.26	0.87512	D	-4.44	0.77637	D	0.417	0.45709	0.726	0.93497	D	0.792	0.92934	D	10	0.18458587	0.33839	T	0.076848	0.72630	D	0.501	0.78413	.	.	0.970899974752	0.97059	0.26728367419351934	0.26641	0.379708804077	0.39358	0.473244875669	0.35126	T	0.354704	0.72181	T	-0.294198	0.09219	T	-0.25172	0.49648	T	0.216308633819554	0.21278	T	0.939406	0.77188	D	0.5960367	0.72477	0.50737745	0.71529	0.5960367	0.72478	0.50737745	0.71529	-8.384	0.63659	D	.	.	0.106	0.19800	B	.;.;.	.;.;.	4.818337	0.78455	26.9	0.99912097264948219	0.98095	0.98872	0.87979	D	AEFGBI	0.878069	0.80310	D	0.736028199703135	0.81993	7.654022	0.666288164157704	0.79829	7.165723	0.999999772896578	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.64	5.64	0.86480	8.654000	0.90844	11.663000	0.94010	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.546000	0.30079	0.0:0.0:1.0:0.0	17.203	0.86792	976	0.04745	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1179.98	34	chr22	25890783	.	G	A	1179.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.087;DP=896;ExcessHet=0.0000;FS=2.419;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.44;ReadPosRankSum=0.612;SOR=0.476	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1347	20	0	1	0
chr22	25952307	25952307	A	G	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon38:c.A5857G:p.I1953V	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	.	425	1093	4	0	0	4	0.00182648	.	.	1152928	Klippel-Feil_anomaly-myopathy-facial_dysmorphism_syndrome|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0014689,MedGen:C4225285,OMIM:616549,Orphanet:447974|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.75	T	0.011	B	0.018	B	0.013	N	0.996	N	-0.235	N	-2.26	D	-0.855	T	0.265	T	0.058	1.586	11.26	0.585	0.370	0.445	5.776	0.097	0.0601588970942	.	.	0.0003	0	0.0010	0	0	0.0003	0.0014	0	0.0001876	29	154602	rs202126120	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	9.522e-05	0.0004	0.0003	8.969e-05	0.0005	0	0	0	0.0005	0.0001	0.0002	8.202e-05	0.0001	0.0001	0.0002	8.072e-05	0.0003	8.171e-05	6.727e-05	0.0001	8.294e-05	4.826e-05	0	0.0003	0	0	0	0.0064	0.0001	0.0010	0	0.575	0.06086	T	0.642	0.06925	T	0.007	0.14184	B	0.008	0.13708	B	0.012668	0.29095	N	0.287305	0.995874	0.23177	N	0.535	0.13693	N	-2.26	0.87512	D	-0.28	0.11547	N	0.095	0.10056	-0.8549	0.51627	T	0.265	0.63577	T	10	0.023364544	0.00609	T	0.060159	0.67909	D	0.097	0.27909	.	.	0.631150896671	0.62813	0.15295321348879437	0.15217	0.0608350649854	0.06768	0.40795391798	0.26173	T	0.033791	0.23059	T	-0.402707	0.02223	T	-0.457656	0.26856	T	0.00908260405267949	0.00114	T	0.574643	0.20620	T	0.028973827	0.02319	0.032468334	0.01988	0.028973827	0.02318	0.032468334	0.01988	-3.815	0.21029	T	.	.	0.079	0.07412	B	.;.;.	.;.;.	1.034824	0.14151	10.73	0.96609286445517839	0.30437	0.06662	0.12681	N	AEFDGBHI	0.062679	0.12063	N	-0.872146099519434	0.11509	0.555755	-0.729856301725109	0.16219	0.8569486	0.999605446923183	0.40866	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.49	0.585	0.16611	0.459000	0.21619	1.694000	0.28089	0.731000	0.85647	0.002000	0.15269	0.310000	0.24267	0.705000	0.34296	0.5577:0.1368:0.3055:0.0	5.776	0.17547	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.04762	4487.08	40	chr22	25952307	.	A	G	4487.08	.	AC=2;AF=0.048;AN=42;DP=860;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.95;SOR=0.873	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1465	20	1	0	0
chr22	26026666	26026666	G	A	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon43:c.G6695A:p.R2232Q	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.116	B	0.008	B	0.497	N	1.000	N	0.4	N	-2.21	D	-0.737	T	0.348	T	0.11	1.672	11.55	-7.57	-1.435	-0.811	8.215	0.008	0.0650720746779	8.3e-05	.	1.68e-05	0	0	0	0	1.522e-05	0	6.109e-05	1.29e-05	2	154602	rs373233326	6.842e-06	6.84e-06	8.168e-06	5.501e-06	1.159e-05	3.46e-06	2.52e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.195e-06	1.656e-05	1.159e-05	1.316e-05	1.313e-05	1.285e-05	1.347e-05	4.832e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.832e-05	0	0	0	0	0	0	0	0	0	0.544	0.06713	T	0.388	0.15602	T	0.07	0.23866	B	0.003	0.08700	B	0.497269	0.05071	N	1.378230	1	0.08975	N	0.455	0.12820	N	-2.21	0.87116	D	-1.42	0.34992	N	0.05	0.02861	-0.7373	0.58591	T	0.348	0.71249	T	10	0.057952195	0.06737	T	0.065072	0.69469	D	0.149	0.39377	.	.	0.449187354989	0.44539	0.1980927915988317	0.19726	0.0761378595763	0.08550	0.190037697554	0.00226	T	0.031175	0.21919	T	-0.290989	0.09537	T	-0.474234	0.25060	T	0.0259905178885366	0.01405	T	0.548145	0.18826	T	0.02490069	0.01370	0.037624974	0.03456	0.02490069	0.01369	0.037624974	0.03456	-4.513	0.31058	T	.	.	0.070	0.03736	B	.;.;.	.;.;.	-0.439972	0.02067	0.190	0.93610990977322095	0.23473	0.01483	0.04933	N	AEFBI	0.071009	0.14119	N	-1.51664266694787	0.01740	0.07618522	-1.62362731931674	0.01518	0.06873288	0.995275743779153	0.34040	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.36	-7.57	0.01176	-0.955000	0.03979	-2.655000	0.03502	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.060000	0.15972	0.5955:0.1124:0.2921:0.0	8.215	0.30667	905	0.23532	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	5202.98	34	chr22	26026666	.	G	A	5202.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.22;DP=1351;ExcessHet=0.0000;FS=1.660;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=-1.028e+00;SOR=0.789	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	20	0	1	0
chr22	26027121	26027121	C	T	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon43:c.C7150T:p.R2384W	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	.	423	1093	6	0	0	6	0.00273723	.	.	363966	MYO18B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.22	T	0.412	B	0.043	B	0.025	N	0.994	N	1.52	L	-2.49	D	-0.610	T	0.428	T	0.301	0.876	8.554	1.19	0.148	0.608	2.818	0.140	0.0948698414008	0.0038	0.00179712	0.0030	0.0007	0.0036	0	0.0005	0.0045	0.0033	0.0005	0.0030659	474	154602	rs192639023	0.0046	0.0046	0.0048	0.0044	0.0056	0.0045	0.0045	0.0055	0.0055	0.0014	0.0038	0.0005	2.519e-05	0.0002	0.0040	0.0056	0.0036	0.0004	0.0033	0.0033	0.0036	0.0031	0.0056	0.0031	0.0030	0.0047	0.0045	0.0013	0	0.0056	0	0	9.42e-05	0.0034	0.0051	0.0071	0.0002	0.165	0.23271	T	0.001	0.83351	D	0.289	0.32288	B	0.019	0.18783	B	0.025072	0.26152	N	0.250905	0.994179	0.23572	N	1.935	0.51832	L	-2.49	0.89293	D	-2.81	0.59389	D	0.272	0.30800	-0.6101	0.64399	T	0.428	0.77075	T	10	0.008432716	0.00191	T	0.09487	0.76328	D	0.140	0.37593	.	.	0.798183091467	0.79630	0.20097610193958687	0.20014	0.0907264345621	0.10238	0.487683176994	0.37118	T	0.06595	0.32819	T	-0.343433	0.05154	T	-0.263066	0.48516	T	0.0165819732106527	0.00419	T	0.829317	0.49436	T	0.076628	0.17341	0.07048611	0.14982	0.08136513	0.18693	0.0733562	0.15930	-6.83	0.52782	T	.	.	0.102	0.27851	B	.;.;.	.;.;.	2.434043	0.31314	18.70	0.99144130941944963	0.53627	0.07476	0.13492	N	AEFBI	0.203082	0.32962	N	-0.785497481826736	0.13687	0.6760706	-0.81797770639486	0.14060	0.7327185	0.119954161726533	0.16856	0.538911	0.22237	0	0.588015	0.36545	0	0.607057	0.38367	0	0.564101	0.26826	0	.	.	4.59	1.19	0.20120	0.625000	0.24171	1.910000	0.29640	-0.223000	0.07921	0.371000	0.25932	0.929000	0.28499	0.412000	0.27050	0.3571:0.3817:0.0:0.2612	2.818	0.05128	905	0.23532	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	5243.98	390	chr22	26027121	.	C	T	5243.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.21;DP=2244;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.20;ReadPosRankSum=0.630;SOR=0.666	GT:AD:DP:GQ:PL	0/0:425,0:425:99:0,120,1800	20	0	1	0
chr22	26027623	26027623	C	T	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon43:c.C7652T:p.T2551M	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	.	416	1101	5	0	0	5	0.00226552	.	.	1467601	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.895	P	0.289	B	0.666	N	1.000	N	0	N	-2.2	D	-0.578	T	0.398	T	0.161	0.208	5.119	3.08	0.585	1.185	10.723	0.041	0.0737073875313	.	0.000199681	0.0002	0	0.0004	0.0002	0	0.0002	0	0	0.0001358	21	154602	rs537017719	0.0001	0.0001	0.0001	9.628e-05	0.0003	8.984e-05	8.467e-05	0.0002	0.0002	2.987e-05	0.0003	0.0007	2.52e-05	1.873e-05	0	9.264e-05	0.0002	2.319e-05	0.0001	0.0001	7.717e-05	0.0001	0.0003	7.093e-05	5.749e-05	0.0001	8.282e-05	4.818e-05	0	0.0003	0	0	0	0	0.0001	0	0	0.003	0.68238	D	0.075	0.42794	T	0.521	0.37531	P	0.096	0.30313	B	0.665846	0.06007	N	1.211880	1	0.08975	N	1.5	0.37844	L	-2.2	0.87038	D	-1.61	0.38734	N	0.129	0.20262	-0.5782	0.65688	T	0.398	0.75045	T	10	0.034923226	0.01719	T	0.073707	0.71859	D	0.295	0.61502	.	.	0.734920241046	0.73255	0.30227002007513865	0.30140	0.0683700250583	0.07654	0.247428551316	0.03502	T	0.046048	0.27308	T	-0.270466	0.11705	T	-0.315763	0.43038	T	0.0532634452008459	0.06064	T	0.393561	0.09813	T	0.02885192	0.02288	0.06596466	0.13445	0.02885192	0.02288	0.06596466	0.13444	-5.267	0.39615	T	.	.	0.081	0.10739	B	.;.;.	.;.;.	1.790601	0.22760	15.75	0.95379720346264374	0.26802	0.14757	0.18570	N	AEFDBHCI	0.164592	0.29099	N	-0.797422968986509	0.13377	0.6585602	-0.829657859586208	0.13778	0.716565	0.964709243205553	0.28779	0.538911	0.22237	0	0.588015	0.36545	0	0.607057	0.38367	0	0.564101	0.26826	0	.	.	5.17	3.08	0.34576	1.228000	0.32190	1.402000	0.26205	-0.173000	0.11020	0.001000	0.13787	0.001000	0.17328	0.000000	0.00833	0.0:0.8425:0.0:0.1575	10.723	0.45253	905	0.23532	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	4808.98	37	chr22	26027623	.	C	T	4808.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.81;DP=1138;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=0.183;SOR=0.706	GT:AD:DP:GQ:PL	0/1:202,191:393:99:4823,0,4738	20	0	1	0
chr22	26453324	26453324	C	T	exonic	HPS4	.	nonsynonymous SNV	HPS4:NM_152841:exon12:c.G2021A:p.S674N	Hermansky-Pudlak syndrome 4	.	1	1519	2	0	0	2	0.000657895	.	.	438670	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.82	T	0.238	B	0.132	B	0.000	D	0.748	D	1.155	L	1.98	T	-1.060	T	0.032	T	0.038	0.462	6.508	4.46	2.307	4.890	6.094	0.082	0.00333783240548	.	.	3.295e-05	0	0	0	0	1.498e-05	0	0.0002	3.88e-05	6	154602	rs761057923	2.599e-05	2.599e-05	2.042e-05	3.163e-05	0.0007	1.932e-05	1.692e-05	0.0002	0.0001	0	0	0	2.519e-05	0	0.0007	1.079e-05	3.311e-05	0.0002	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.338	0.12796	T	1.0	0.01155	T	0.125	0.26866	B	0.097	0.30390	B	0.000004	0.62929	D	0.107316	0.747719	0.33893	D	1.2	0.30300	L	1.98	0.21865	T	0.07	0.06138	N	0.073	0.05670	-1.0601	0.11731	T	0.032	0.13723	T	10	0.07943654	0.12778	T	0.003338	0.07451	T	0.082	0.23913	0.178	0.08503	0.290962096972	0.28708	0.1816148950593467	0.18080	0.0536951947844	0.05932	0.409600138664	0.26401	T	0.099099	0.40358	T	-0.445205	0.01205	T	-0.674628	0.07315	T	0.154281795024872	0.17439	T	0.69563	0.30512	T	0.04511829	0.07332	0.05582231	0.09864	0.04511829	0.07332	0.05582231	0.09864	-4.624	0.33585	T	.	.	0.167	0.40937	B	.;.;.	.;.;.	2.317599	0.29672	18.20	0.72596002628138634	0.10028	0.81890	0.41206	D	AEFDBI	0.300399	0.40920	N	-0.248314615081791	0.31171	1.745173	-0.127188681402622	0.34299	1.971361	0.999962325314636	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.46	4.46	0.53567	4.659000	0.61199	2.177000	0.31099	0.599000	0.40250	1.000000	0.71638	0.975000	0.29991	0.187000	0.21511	0.0:0.795:0.0:0.205	6.094	0.19232	965	0.07246	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2345.98	35	chr22	26453324	.	C	T	2345.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.750e-01;DP=899;ExcessHet=0.0000;FS=2.387;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.39;ReadPosRankSum=0.874;SOR=0.548	GT:AD:DP:GQ:PL	0/1:112,94:206:99:2360,0,2901	20	0	1	0
chr22	26477003	26477003	T	A	exonic	HPS4	.	nonsynonymous SNV	HPS4:NM_152841:exon2:c.A251T:p.D84V	Hermansky-Pudlak syndrome 4	.	0	1519	3	0	0	3	0.000986518	.	.	1150009	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.992	D	0.868	P	0.007	N	1.000	D	2.015	M	-2.69	D	0.605	D	0.773	D	0.915	3.781	19.20	4.39	1.075	4.507	10.211	0.729	0.160193982474	.	0.000399361	0.0004	9.61e-05	0	0	0	2.997e-05	0	0.0031	0.0003622	56	154602	rs551412746	0.0002	0.0002	9.529e-05	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	2.987e-05	0	0	2.519e-05	0	0.0002	8.993e-07	0.0002	0.0030	8.536e-05	8.531e-05	5.14e-05	0.0001	0.0027	4.954e-05	3.96e-05	0.0016	0.0013	0	0	0	0	0	0	0	0	0	0.0027	0.005	0.63226	D	0.002	0.79402	D	0.977	0.58535	D	0.803	0.58300	P	0.007120	0.31595	N	0.356445	1	0.81001	D	2.685	0.78553	M	-2.69	0.90451	D	-6.52	0.91695	D	0.851	0.84713	0.605	0.91962	D	0.773	0.92283	D	10	0.031972617	0.01340	T	0.160194	0.84024	D	0.729	0.90501	0.494	0.58206	0.98213724256	0.98194	0.7033651009982815	0.70277	0.338618653779	0.35826	0.335799485445	0.15808	T	0.507114	0.82500	D	0.106448	0.64980	D	0.376451	0.91305	D	0.182057598626036	0.19365	T	0.907509	0.67274	D	0.31541273	0.54251	0.2938731	0.55416	0.30549997	0.53394	0.28901795	0.54920	-11.474	0.82194	D	.	.	0.264	0.50581	B	.;.;.;.	.;.;.;.	4.535607	0.71241	25.6	0.99339656184187575	0.60131	0.92956	0.56963	D	AEFDGBCI	0.610048	0.59902	D	0.479785050001416	0.65910	4.882	0.441562485768123	0.64176	4.666962	0.999999979311598	0.74766	0.719381	0.83141	0	0.662677	0.63036	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.43	4.39	0.52211	4.508000	0.60161	4.975000	0.46425	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:0.0781:0.0:0.9219	10.211	0.42317	966	0.07191	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	926.98	86	chr22	26477003	.	T	A	926.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.350e-01;DP=779;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=-9.750e-01;SOR=0.635	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1210	20	0	1	0
chr22	26541507	26541507	G	A	exonic	TPST2	.	nonsynonymous SNV	TPST2:NM_001362922:exon2:c.C124T:p.R42W	.	.	.	.	.	.	.	.	.	.	.	2692185	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.0	B	0.0	B	0.158	N	1.000	N	0.55	N	.	.	-1.073	T	0.050	T	0.442	-0.306	2.541	-2.79	-0.358	0.052	4.333	0.078	0.0235195756217	.	0.000199681	1.779e-05	0.0001	0	0	0	1.622e-05	0	0	4.53e-05	7	154602	rs538180758	4.797e-06	4.788e-06	2.727e-06	6.889e-06	0.0001	2e-06	1.28e-06	5.859e-05	3.765e-05	0.0001	0	0	0	0	0	9.002e-07	1.659e-05	0	1.969e-05	1.968e-05	1.284e-05	2.684e-05	7.214e-05	5.24e-06	2.45e-06	1.913e-05	1.03e-05	7.214e-05	0	0	0	0	0	0	0	0	0	0.195	0.39097	T	0.023	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	0.158297	0.17744	N	0.338820	1	0.08975	N	0.205	0.09354	N	.	.	.	-1.53	0.93764	N	0.169	0.17966	-1.0727	0.08830	T	0.050	0.21300	T	9	0.050989598	0.04914	T	0.02352	0.46484	T	0.078	0.22779	0.389	0.41115	0.161926535498	0.15789	0.4808169489926116	0.48001	0.611889816332	0.55805	0.679280519485	0.64164	T	0.166345	0.51254	T	-0.273111	0.11412	T	-0.350646	0.39131	T	0.00365601979987152	0.00039	T	0.780122	0.47762	T	0.034112874	0.03764	0.031928968	0.01852	0.034112874	0.03764	0.031928968	0.01852	-5.18	0.38738	T	.	.	0.124	0.28607	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.020583	0.25676	16.85	0.81157611088015258	0.13547	0.03437	0.08574	N	AEFDGBI	0.123358	0.23893	N	-1.24241423355179	0.04400	0.1985136	-1.29178772576656	0.04541	0.2144184	0.995031094680447	0.33919	0.706548	0.73137	0	0.724815	0.89359	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.25	-2.79	0.05494	0.389000	0.20478	0.292000	0.16883	-0.279000	0.06446	0.014000	0.18986	0.000000	0.08366	0.775000	0.36711	0.2599:0.0:0.3961:0.344	4.333	0.10512	975	0.05339	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1173.98	39	chr22	26541507	.	G	A	1173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=927;ExcessHet=0.0000;FS=0.678;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.10;ReadPosRankSum=-1.870e-01;SOR=0.600	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr22	26607993	26607993	G	A	exonic	CRYBB1	.	nonsynonymous SNV	CRYBB1:NM_001887:exon4:c.C328T:p.R110C,	Cataract 17, multiple types	.	0	1477	43	2	0	47	0.0156614	.	.	471814	not_specified|not_provided|Cataract_17_multiple_types	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012688,MedGen:C3888124,OMIM:611544,Orphanet:91492	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.29	T	0.11	B	0.036	B	0.018	N	1.000	D	1.5	L	-1.2	T	-0.739	T	0.294	T	0.408	1.441	10.76	2.55	0.573	3.507	9.879	0.314	.	0.0032	0.00279553	0.0040	0.0005	0.0011	0	0.0002	0.0036	0.0055	0.0130	0.0037774	584	154602	rs147206089	0.0038	0.0038	0.0034	0.0042	0.0130	0.0037	0.0037	0.0119	0.0117	0.0005	0.0013	0.0074	2.519e-05	0.0003	0.0130	0.0035	0.0038	0.0125	0.0025	0.0025	0.0025	0.0024	0.0081	0.0023	0.0022	0.0061	0.0054	0.0005	0	0.0014	0.0084	0	0.0002	0.0034	0.0038	0.0024	0.0081	0.296	0.14694	T	0.334	0.18340	T	0.11	0.26188	B	0.036	0.22909	B	0.018280	0.27521	N	0.409242	1	0.81001	D	1.2	0.30300	L	-1.2	0.78537	T	-2.74	0.58248	D	0.56	0.58458	-0.7390	0.58504	T	0.294	0.66536	T	10	0.01889366	0.00416	T	.	.	.	0.314	0.63588	.	.	0.857164336281	0.85578	0.709777968785086	0.70919	0.44494330437	0.44396	0.426186293364	0.28687	T	0.303705	0.67604	T	-0.314402	0.07366	T	-0.213362	0.53372	T	0.00948379120019987	0.00122	T	0.89791	0.64303	D	0.23340948	0.46144	0.14586306	0.34577	0.27970907	0.51020	0.1532315	0.36015	-7.048	0.54383	T	0.14177902914573434	0.15978	0.150	0.33249	B	.;.	.;.	3.762870	0.53999	23.4	0.94776455865826359	0.25501	0.90965	0.52598	D	AEFDGBI	0.398102	0.47391	N	-0.238859755634585	0.31551	1.770245	-0.138961483284626	0.33837	1.939746	0.999981519265805	0.51787	0.653281	0.48532	0	0.588066	0.40923	0	0.675528	0.61593	0	0.530356	0.10902	0	.	.	4.64	2.55	0.29757	3.076000	0.49779	4.347000	0.43075	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.850000	0.40195	0.1587:0.0:0.8413:0.0	9.879	0.40392	960	0.08626	Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin;Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3622.11	37	chr22	26607993	.	G	A	3622.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.65;DP=1041;ExcessHet=0.1072;FS=0.790;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.71;ReadPosRankSum=1.13;SOR=0.643	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1326	19	0	2	0
chr22	27798761	27798761	C	T	exonic	MN1	.	nonsynonymous SNV	MN1:NM_002430:exon1:c.G1783A:p.V595M,	Meningioma, Autosomal dominant	.	1	1518	3	0	0	3	0.000987167	.	.	3185002	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.15	T	0.981	D	0.811	P	0.000	D	0.789	D	0.695	N	0.7	T	-0.797	T	0.139	T	0.387	3.315	17.15	3.69	2.192	3.400	12.140	0.116	0.385468462451	.	0.00119808	0.0014	0	0	0	0	0.0037	0.0088	0.0004	0.000608	94	154602	rs45473596	0.0010	0.0011	0.0010	0.0010	0.0072	0.0009	0.0009	0.0064	0.0062	0	5.602e-05	0.0033	0.0072	0.0182	0.0002	0.0003	0.0013	0.0001	0.0022	0.0022	0.0013	0.0031	0.0068	0.0020	0.0019	0.0050	0.0044	0	0	0	0.0023	0.0068	0.0192	0	0.0012	0.0024	0.0002	0.032	0.44694	D	0.253	0.23501	T	0.981	0.59675	D	0.811	0.58656	P	0.000123	0.49741	D	0.076135	0.788783	0.34359	D	1.24	0.30952	L	0.7	0.51474	T	-1.55	0.37566	N	0.361	0.40264	-0.7968	0.55333	T	0.139	0.45678	T	10	0.008271813	0.00188	T	0.385468	0.93069	D	0.116	0.32463	.	.	0.774937096104	0.77286	0.3503511186886075	0.34949	.	.	0.871688067913	0.92808	D	0.184321	0.53694	T	-0.398679	0.02362	T	-0.343809	0.39912	T	0.0571183187641392	0.06708	T	0.883612	0.60617	D	0.17091069	0.37694	0.3085466	0.56872	0.17091069	0.37694	0.3085466	0.56871	-4.139	0.25863	T	.	.	0.191	0.40921	B	.	.	3.499316	0.48948	22.7	0.99809602355447014	0.89353	0.92855	0.56711	D	AEFDBHCIJ	0.388201	0.46790	N	0.307900070443032	0.56554	3.820192	0.328788888391863	0.57236	3.888809	0.999999942630125	0.74766	0.443343	0.08805	1	0.547309	0.14657	0	0.666236	0.60216	0	0.620976	0.48614	0	.	.	4.78	3.69	0.41483	3.325000	0.51742	3.760000	0.39715	0.442000	0.21104	0.997000	0.40164	0.999000	0.35428	0.836000	0.39433	0.0:0.8257:0.1743:0.0	12.140	0.53296	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	726.98	38	chr22	27798761	.	C	T	726.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.821;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=-1.310e-01;SOR=0.665	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1101	20	0	1	0
chr22	27798945	27798945	-	TGCTGC	exonic	MN1	.	nonframeshift insertion	MN1:NM_002430:exon1:c.1598_1599insGCAGCA:p.Q550_R551insQQ,	Meningioma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2352190	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	0.0021	0.0071	0.0015	0	0.0056	0	0.0004	0.0002689	7	26028	rs572936881	0.0048	0.0049	0.0050	0.0047	0.0056	0.0047	0.0047	0.0054	0.0054	0.0019	0.0037	0.0045	0.0008	0.0027	0.0016	0.0056	0.0045	0.0005	0.0039	0.0039	0.0042	0.0036	0.0058	0.0036	0.0035	0.0053	0.0051	0.0018	0.0110	0.0033	0.0047	0.0014	0.0018	0.0034	0.0058	0.0059	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2854.12	35	chr22	27798945	.	T	TTGC,TTGCTGC	2854.12	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=0.942;DP=853;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=17.19;ReadPosRankSum=1.01;SOR=0.648	GT:AD:DP:GQ:PL	0/0:34,0,0:34:99:0,99,1101,99,1101,1101	17	0	3	0
chr22	27799019	27799019	C	T	exonic	MN1	.	nonsynonymous SNV	MN1:NM_002430:exon1:c.G1525A:p.G509R,	Meningioma, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	1.0	D	0.000	D	1.000	D	0.805	L	0.82	T	-0.712	T	0.202	T	0.844	3.945	20.2	4.78	2.192	5.289	16.417	0.350	0.450389650239	.	.	1.08e-05	0	0	0	0	1.944e-05	0	0	6.5e-06	1	154602	rs750223477	1.371e-06	1.368e-06	1.363e-06	1.378e-06	1.163e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.998e-07	0	1.163e-05	6.579e-06	6.57e-06	0	1.347e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.0	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	1.7	0.43825	L	0.82	0.48142	T	-5.24	0.83967	D	0.597	0.61596	-0.7123	0.59839	T	0.202	0.55822	T	10	0.7261462	0.73986	D	0.45039	0.94331	D	0.350	0.67142	0.163	0.06730	0.830204933196	0.82859	0.5631363646666874	0.56240	.	.	0.878211259842	0.93718	D	0.510078	0.82662	D	0.162359	0.70420	D	-0.0045596	0.70039	D	0.991491615772247	0.81797	D	0.777822	0.41150	T	0.8752438	0.89280	0.79458374	0.87931	0.8752438	0.89281	0.79458374	0.87931	-3.146	0.11832	T	.	.	0.911	0.83490	P	.	.	4.501093	0.70397	25.5	0.99884114199925322	0.95970	0.95884	0.66568	D	AEFDBCI	0.744043	0.68715	D	0.487671595248547	0.66368	4.941222	0.496996680669056	0.67789	5.131485	0.999999999999863	0.74766	0.582742	0.33608	0	0.547309	0.14657	0	0.606884	0.38211	0	0.620976	0.48614	0	.	.	4.78	4.78	0.60666	4.346000	0.59146	7.465000	0.59093	0.442000	0.21104	0.933000	0.32380	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	16.417	0.83582	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	647.98	35	chr22	27799019	.	C	T	647.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=840;ExcessHet=0.0000;FS=0.972;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.29;ReadPosRankSum=-7.870e-01;SOR=0.682	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1101	20	0	1	0
chr22	27800053	27800053	C	G	exonic	MN1	.	nonsynonymous SNV	MN1:NM_002430:exon1:c.G491C:p.S164T,	Meningioma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.0	B	0.003	B	0.000	D	0.997	N	0	N	-0.03	T	-1.022	T	0.105	T	0.053	1.634	11.42	3.27	0.741	1.316	10.222	0.166	0.0184296334081	.	.	0.0002	0	0.0001	0	0	1.948e-05	0	0.0011	0.0001164	18	154602	rs779530474	4.417e-05	4.378e-05	3.023e-05	5.825e-05	0.0007	3.54e-05	3.221e-05	0.0006	0.0005	0	0	0	0	0	0	9.001e-07	0	0.0007	1.969e-05	1.968e-05	0	4.027e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	0	0	0.0006	0.216	0.19225	T	0.231	0.25061	T	0.0	0.02946	B	0.003	0.08700	B	0.000135	0.49741	D	0.173853	0.996897	0.22865	N	0	0.06538	N	-0.03	0.63077	T	-1.78	0.42001	N	0.03	0.00717	-1.0215	0.23227	T	0.105	0.38562	T	10	0.019952983	0.00452	T	0.01843	0.40491	T	0.166	0.42578	0.039	0.00029	0.769421126801	0.76731	0.13360613568991353	0.13284	.	.	0.61151278019	0.54529	T	0.158608	0.50170	T	-0.497607	0.00590	T	-0.543903	0.17916	T	0.102817101147906	0.12664	T	0.464953	0.13579	T	0.29865593	0.52783	0.30516252	0.56544	0.29865593	0.52783	0.30516252	0.56543	-5.076	0.37653	T	.	.	0.102	0.17995	B	.	.	2.701630	0.35291	19.86	0.95605919097394731	0.27352	0.94426	0.61127	D	ALL	0.322602	0.42504	N	-0.412876007569404	0.25016	1.354987	-0.212757750571942	0.31076	1.755436	0.999999998196147	0.74766	0.443343	0.08805	1	0.547309	0.14657	0	0.666236	0.60216	0	0.56751	0.32155	0	.	.	5.37	3.27	0.36580	1.390000	0.34072	3.988000	0.40963	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.7891:0.137:0.0739	10.222	0.42380	981	0.03995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1461.98	35	chr22	27800053	.	C	G	1461.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.319e+00;DP=876;ExcessHet=0.0000;FS=1.307;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.95;ReadPosRankSum=0.597;SOR=0.860	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1171	20	0	1	0
chr22	27983494	27983494	C	G	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon23:c.G6173C:p.G2058A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.999	D	0.996	D	0.001	D	1.000	D	1.1	L	-3.55	D	0.873	D	0.854	D	0.534	3.865	19.64	4.62	2.497	5.622	17.344	0.409	0.092232836446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.158e-06	1.3e-05	4.259e-06	0	2.79e-06	5.7e-07	1.6e-07	7.4e-07	2.1e-07	0	0	0	0	0	0	2.79e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.382	0.15890	T	0.999	0.77913	D	0.996	0.84481	D	0.000562	0.43250	D	0.231958	0.999998	0.58761	D	2.005	0.54552	M	-3.55	0.94834	D	-1.3	0.32590	N	0.603	0.62103	0.873	0.95310	D	0.854	0.95149	D	10	0.3825744	0.54304	T	0.092233	0.75853	D	0.409	0.72099	0.19	0.10039	0.813956147583	0.81220	0.39497344297316855	0.39412	.	.	0.577225387096	0.49695	T	0.029009	0.20885	T	0.212969	0.75111	D	0.0681383	0.74787	D	0.896070539951324	0.54772	D	0.984702	0.94722	D	0.313312	0.54071	0.39437744	0.64133	0.313312	0.54071	0.39437744	0.64133	-2.954	0.09694	T	.	.	0.597	0.68768	P	.;.	.;.	4.504296	0.70476	25.5	0.99803016321568272	0.88728	0.97027	0.72267	D	AEFDBI	0.627685	0.61005	D	0.584171606304849	0.72186	5.766284	0.570052008804894	0.72802	5.867747	0.999999815894828	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.62	4.62	0.56946	5.680000	0.67831	7.580000	0.60937	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.344	0.87192	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2333	768.61	106	chr22	27983494	.	C	G	768.61	.	AC=7;AF=0.233;AN=30;BaseQRankSum=-3.655e+00;DP=1981;ExcessHet=2.5830;FS=182.420;InbreedingCoeff=-0.3157;MLEAC=9;MLEAF=0.300;MQ=60.00;MQRankSum=0.00;QD=1.03;ReadPosRankSum=1.25;SOR=9.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,15:104:99:0|1:27983493_C_G:130,0,3260:27983493	8	0	7	6
chr22	27983495	27983495	C	G	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon23:c.G6172C:p.G2058R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.001	N	1.000	D	1.1	L	-3.6	D	0.805	D	0.837	D	0.769	4.020	20.6	3.6	1.253	7.418	12.290	0.600	0.158398177192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.157e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.027	0.58613	D	1.0	0.90584	D	0.999	0.92359	D	0.000562	0.43250	N	0.231958	0.999999	0.58761	D	2.005	0.54552	M	-3.6	0.95009	D	-2.8	0.59226	D	0.789	0.78546	0.805	0.94474	D	0.837	0.94553	D	10	0.61998546	0.67922	D	0.158398	0.83880	D	0.600	0.84183	0.239	0.17065	0.750618531641	0.74836	0.5121720383386701	0.51139	.	.	0.657954216003	0.61117	T	0.095784	0.39692	T	0.353062	0.86712	D	0.269372	0.86538	D	0.99226039648056	0.82702	D	0.987934	0.95926	D	0.3778262	0.59159	0.5174505	0.72120	0.3778262	0.59159	0.5174505	0.72120	-4.333	0.28637	T	.	.	0.962	0.88285	P	.;.	.;.	4.774876	0.77330	26.7	0.9991599844056599	0.98379	0.99519	0.96998	D	AEFDBI	0.922723	0.89811	D	0.528874973212774	0.68806	5.26799	0.494853380951096	0.67649	5.112284	0.99999983332082	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.62	3.6	0.40374	7.481000	0.80171	7.580000	0.60937	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9161:0.0:0.0839	12.290	0.54132	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4375	796.84	106	chr22	27983495	.	C	G	796.84	.	AC=7;AF=0.438;AN=16;BaseQRankSum=-2.082e+00;DP=1886;ExcessHet=2.5830;FS=182.420;InbreedingCoeff=-0.4724;MLEAC=12;MLEAF=0.750;MQ=60.00;MQRankSum=0.00;QD=1.07;ReadPosRankSum=1.34;SOR=9.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,15:104:99:0|1:27983493_C_G:130,0,3260:27983493	1	0	7	13
chr22	28001493	28001493	C	G	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon15:c.G4279C:p.G1427R,	.	.	409	1095	17	1	0	19	0.00860118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.985	D	0.893	P	0.000	D	1.000	D	1.885	L	-2.62	D	0.680	D	0.786	D	0.956	4.714	26.2	4.34	2.363	7.587	16.714	0.871	.	.	0.00319489	0.0056	0	0.0025	0	0	0.0002	0.0053	0.0134	0.000912	141	154602	rs548381923	0.0010	0.0009	0.0006	0.0013	0.0124	0.0009	0.0009	0.0117	0.0115	6.33e-05	8.402e-05	0.0001	2.798e-05	2.038e-05	0.0032	0.0003	0.0012	0.0124	0.0005	0.0005	0.0004	0.0006	0.0114	0.0004	0.0004	0.0090	0.0081	4.808e-05	0	0	0	0	9.409e-05	0	0.0002	0.0005	0.0114	0.119	0.28026	T	0.03	0.56192	D	0.985	0.61118	D	0.893	0.63340	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.075	0.57047	M	-2.62	0.90017	D	-4.04	0.74427	D	0.984	0.99337	0.680	0.92921	D	0.786	0.92740	D	10	0.012106806	0.00261	T	.	.	.	0.871	0.96133	0.579	0.70476	0.893121855094	0.89206	0.8804272369799208	0.88010	.	.	0.823987305164	0.85639	D	0.10844	0.42147	T	0.0845185	0.62564	D	0.360305	0.90714	D	0.0959760441227159	0.11908	T	0.976702	0.91916	D	0.46401715	0.64921	0.3672549	0.62039	0.46401715	0.64921	0.3672549	0.62039	-6.177	0.47736	T	.	.	0.728	0.78157	P	.;.	.;.	4.692695	0.75215	26.3	0.99933938484102713	0.99535	0.98188	0.80368	D	AEFDGBI	0.912554	0.87335	D	0.672589447904603	0.77838	6.752207	0.642602020378295	0.78063	6.801034	0.999999999998848	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.34	4.34	0.51267	7.650000	0.82668	7.661000	0.64234	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	16.714	0.85253	958	0.09170	CHAT domain;CHAT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1024.98	39	chr22	28001493	.	C	G	1024.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=802;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.35;ReadPosRankSum=-1.263e+00;SOR=0.747	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1170	20	0	1	0
chr22	28306556	28306556	G	C	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon3:c.C469G:p.P157A,	.	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.843	P	0.517	P	0.000	D	1.000	D	1.635	L	-3.6	D	0.657	D	0.810	D	0.825	4.049	20.8	5.72	2.700	7.633	18.877	0.850	0.0461984921565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.148e-07	6.84e-07	0	1.449e-06	9.269e-07	0	0	.	.	0	0	0	0	0	0	9.269e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.34621	T	0.125	0.35330	T	0.843	0.46605	P	0.517	0.48105	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.08	0.57402	M	-3.6	0.95009	D	-4.12	0.75058	D	0.802	0.79792	0.657	0.92633	D	0.810	0.93575	D	10	0.82962984	0.82129	D	0.046198	0.62343	D	0.850	0.95360	0.652	0.78963	0.855762016109	0.85437	0.6829927972256764	0.68238	.	.	0.835599958897	0.87421	D	0.075951	0.36100	T	0.363045	0.87486	D	0.283712	0.87324	D	0.979026436805725	0.72620	D	0.961904	0.85651	D	0.29634008	0.52574	0.30478498	0.56507	0.29634008	0.52574	0.30478498	0.56506	-7.872	0.60194	D	.	.	0.321	0.63844	B	.;.	.;.	4.834069	0.78857	27.0	0.99444798410691915	0.64971	0.97810	0.77299	D	AEFGI	0.896628	0.83790	D	0.578877641850151	0.71859	5.715157	0.650120643487224	0.78620	6.912937	0.999991146363754	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.72	5.72	0.89380	7.774000	0.84234	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.877	0.92311	470	0.78111	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1166.98	33	chr22	28306556	.	G	C	1166.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.170e-01;DP=790;ExcessHet=0.0000;FS=5.298;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=1.86;SOR=0.389	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1032	20	0	1	0
chr22	28725277	28725277	C	T	exonic	CHEK2	.	nonsynonymous SNV	CHEK2:NM_001349956:exon3:c.G410A:p.R137Q	Li-Fraumeni syndrome;Osteosarcoma, somatic	YES	4	1516	2	0	0	2	0.000659196	.	.	133530	Hereditary_cancer-predisposing_syndrome|not_specified|CHEK2-related_cancer_predisposition|Familial_cancer_of_breast|not_provided|Breast_and/or_ovarian_cancer	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0700271,MedGen:CN377760|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MedGen:C3661900|MedGen:CN221562	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.65	T	0.304	B	0.039	B	0.054	N	1.000	N	0.18	N	-2.14	D	-0.493	T	0.377	T	0.662	1.968	12.54	1.56	0.843	0.946	7.029	0.510	0.0567506986057	7.7e-05	.	0.0002	0	0.0003	0	0	0.0003	0.0022	0	0.0001617	25	154602	rs368570187	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	9.501e-05	0.0003	0.0002	0	0.0004	0	0	1.872e-05	0.0007	0.0001	0.0003	0	0.0001	0.0001	8.994e-05	0.0001	0.0002	7.581e-05	6.285e-05	0.0001	8.877e-05	4.827e-05	0	0.0002	0	0	0	0	0.0002	0	0	0.548	0.23360	T	0.892	0.11371	T	0.027	0.27452	B	0.019	0.18783	B	0.053907	0.22768	N	0.487137	1	0.81001	D	0.595	0.15482	N	-2.14	0.90210	D	0.38	0.04456	N	0.238	0.37820	-0.4926	0.68916	T	0.377	0.73475	T	10	0.09524587	0.16997	T	0.056751	0.66719	D	0.510	0.78971	.	.	0.946273918268	0.94570	0.2500943247005564	0.24923	0.0212270053355	0.02100	0.321236610413	0.13609	T	0.226125	0.59106	T	-0.0926779	0.37635	T	-0.0367516	0.67920	D	0.0222239416934744	0.00934	T	0.913609	0.69252	D	0.06234476	0.13010	0.07985752	0.18014	0.10083128	0.23813	0.08153842	0.18536	-8.318	0.64403	D	.	.	0.116	0.52102	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.674096	0.34869	19.75	0.95515790601948136	0.27127	0.40542	0.26460	N	AEFBI	0.100929	0.20283	N	-0.664240270951083	0.17047	0.8738652	-0.477632124800232	0.22770	1.238479	0.255853356935096	0.18733	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	1.56	0.22423	1.153000	0.31287	2.182000	0.31137	0.549000	0.26987	0.996000	0.39380	0.995000	0.32472	0.865000	0.41091	0.0:0.547:0.0:0.453	7.029	0.24133	436	0.80373	Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain;.;Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain;Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain;.;Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain;.;.;Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain;Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.02381	1489.98	40	chr22	28725277	.	C	T	1489.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.07;DP=829;ExcessHet=0.0000;FS=0.630;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.57;ReadPosRankSum=-5.570e-01;SOR=0.623	GT:AD:DP:GQ:PL	0/1:81,60:141:99:1504,0,1858	20	0	1	0
chr22	28780950	28780950	G	A	exonic	CCDC117	.	nonsynonymous SNV	CCDC117:NM_001284263:exon2:c.G188A:p.C63Y	.	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.0	B	0.002	B	0.008	N	1.000	D	0.895	L	2.42	T	-1.062	T	0.026	T	0.439	2.845	15.48	1.94	0.646	2.402	5.055	0.170	0.0096288700827	.	0.000599042	0.0001	0.0001	0	0	0	0	0	0.0008	0.0001358	21	154602	rs201686312	4.549e-05	4.72e-05	2.055e-05	7.074e-05	0.0006	3.669e-05	3.347e-05	0.0005	0.0004	9.088e-05	0	0	0	0	0.0002	9.953e-06	1.668e-05	0.0006	5.93e-05	5.914e-05	5.152e-05	6.745e-05	0.0004	3.085e-05	2.216e-05	7.315e-05	3.038e-05	7.241e-05	0	0	0	0	0	0.0034	2.944e-05	0.0005	0.0004	0.004	0.68238	D	0.013	0.74150	D	0.0	0.02946	B	0.002	0.06944	B	0.007921	0.31115	N	0.306550	0.873261	0.81001	D	1.04	0.26193	L	2.42	0.15376	T	-6.81	0.93810	D	0.516	0.55280	-1.0616	0.11361	T	0.026	0.11264	T	10	0.035471946	0.02793	T	0.009629	0.25176	T	0.170	0.43303	0.374	0.38667	0.171220215726	0.16700	0.21274423583744814	0.21190	0.0278765352861	0.02857	0.723952531815	0.70623	T	0.24452	0.61366	T	-0.395808	0.02466	T	-0.431683	0.29744	T	0.224271808914086	0.21675	T	0.525248	0.17252	T	0.22379236	0.45008	0.2657548	0.52412	0.22379236	0.45008	0.2657548	0.52411	-3.415	0.26635	T	.	.	0.329	0.55138	B	.;.;.	.;.;.	3.247904	0.44367	21.9	0.98548948360900468	0.42820	0.84212	0.43295	D	AEFBI	0.333081	0.43229	N	-0.433841606683693	0.24290	1.310568	-0.280223252406022	0.28750	1.605422	0.999708958105697	0.41986	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.37	1.94	0.25058	2.473000	0.44803	6.382000	0.55543	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.079:0.1454:0.6251:0.1506	5.055	0.13865	476	0.77720	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	501.98	33	chr22	28780950	.	G	A	501.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.950e-01;DP=745;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.84;ReadPosRankSum=-7.610e-01;SOR=0.704	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1353	20	0	1	0
chr22	29049997	29049997	C	T	exonic	ZNRF3	.	nonsynonymous SNV	ZNRF3:NM_001206998:exon8:c.C1816T:p.R606C	.	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.071	B	0.007	B	0.000	N	0.996	D	1.795	L	-1.31	T	-0.698	T	0.327	T	0.207	0.036	4.202	1.02	0.196	1.083	4.408	0.159	.	.	0.00219649	0.0015	0	0	0	0	4.816e-05	0.0012	0.0108	0.0012548	194	154602	rs557827738	0.0007	0.0007	0.0004	0.0011	0.0115	0.0007	0.0007	0.0109	0.0107	2.988e-05	4.481e-05	0	0	0	0.0003	2.069e-05	0.0006	0.0115	0.0005	0.0005	0.0002	0.0007	0.0149	0.0004	0.0004	0.0121	0.0111	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0149	0.042	0.41637	D	0.076	0.42614	T	0.071	0.23930	B	0.007	0.12992	B	0.000259	0.46924	N	0.219434	0.995955	0.42940	D	1.61	0.41143	L	-1.31	0.79666	T	-2.23	0.50012	N	0.275	0.31140	-0.6983	0.60519	T	0.327	0.69538	T	10	0.0046073794	0.00096	T	.	.	.	0.159	0.41286	0.174	0.08014	0.143184338766	0.13958	0.5199401549401121	0.51917	0.606777653932	0.55513	0.583125829697	0.50526	T	0.083231	0.37008	T	-0.393003	0.02572	T	-0.329336	0.41542	T	0.0234360977837035	0.01075	T	0.857514	0.54691	D	0.14614609	0.33469	0.07218629	0.15545	0.14614609	0.33469	0.07218629	0.15544	-7.153	0.55143	T	.	.	0.105	0.22500	B	.;.;.	.;.;.	3.034215	0.40654	21.2	0.90515074829797204	0.19771	0.84043	0.43129	D	AEFDBHCI	0.438089	0.49762	N	-0.753063418149947	0.14550	0.725736	-0.77754244149154	0.15046	0.789353	0.99997691863223	0.50053	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	4.33	1.02	0.19102	1.121000	0.30897	2.192000	0.31216	0.596000	0.33519	0.774000	0.29403	0.010000	0.20010	0.407000	0.26939	0.1556:0.5874:0.0:0.257	4.408	0.10847	522	0.74218	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1463.98	38	chr22	29049997	.	C	T	1463.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.080e-01;DP=855;ExcessHet=0.0000;FS=2.156;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=-1.300e-02;SOR=0.885	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1381	20	0	1	0
chr22	29053582	29053582	C	T	exonic	ZNRF3	.	nonsynonymous SNV	ZNRF3:NM_001206998:exon9:c.C2771T:p.P924L	.	.	.	.	.	.	.	.	.	.	.	2305974	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.0	B	0.0	B	0.798	N	1.000	N	0	N	3.35	T	-0.948	T	0.011	T	0.084	0.240	5.295	-3.18	-0.369	0.275	7.789	0.082	0.0138458275151	.	.	1.658e-05	0	0	0	0	3.001e-05	0	0	1.94e-05	3	154602	rs772375384	3.08e-05	3.147e-05	3.813e-05	2.339e-05	3.958e-05	2.348e-05	2.096e-05	3e-05	2.672e-05	0	0	0	2.522e-05	0	0	3.958e-05	0	0	6.585e-06	6.57e-06	1.287e-05	0	6.562e-05	0	0	.	.	0	0	6.562e-05	0	0	0	0	0	0	0	0.002	0.72154	D	0.375	0.16231	T	0.0	0.02946	B	0.0	0.01387	B	0.798016	0.09345	N	0.885835	0.99999	0.08975	N	0.55	0.14455	N	3.35	0.07125	T	-0.95	0.25332	N	0.031	0.06190	-0.9480	0.41313	T	0.011	0.04227	T	10	0.070913255	0.10381	T	0.013846	0.33560	T	0.082	0.23913	0.112	0.02175	0.043077524339	0.03247	0.1808134346246166	0.18000	0.387601023604	0.40038	0.219023361802	0.01254	T	0.050432	0.28592	T	-0.401946	0.02248	T	-0.707487	0.05426	T	0.0919929017940483	0.11452	T	0.481652	0.14579	T	0.06836914	0.14889	0.04736146	0.06805	0.06836914	0.14889	0.04736146	0.06804	-4.457	0.30322	T	.	.	0.066	0.07650	B	.;.;.	.;.;.	1.161133	0.15498	11.90	0.50612145783248064	0.04415	0.37190	0.25705	N	AEFDBHCI	0.058858	0.11073	N	-1.08598896902474	0.06901	0.3190074	-1.04806115180621	0.08747	0.4316029	0.999520398218034	0.40175	0.646311	0.45356	0	0.588066	0.40923	0	0.26897	0.05253	2	0.699875	0.68795	0	.	.	5.98	-3.18	0.04867	0.295000	0.18821	0.267000	0.16613	-0.257000	0.07002	0.994000	0.38300	0.761000	0.26624	0.011000	0.09372	0.1233:0.504:0.0:0.3727	7.789	0.28272	523	0.74147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1530.98	44	chr22	29053582	.	C	T	1530.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.920e-01;DP=1034;ExcessHet=0.0000;FS=2.636;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.60;ReadPosRankSum=0.187;SOR=0.877	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	20	0	1	0
chr22	29060683	29060683	G	A	exonic	C22orf31	.	nonsynonymous SNV	C22orf31:NM_015370:exon2:c.C164T:p.A55V,	.	.	426	1087	8	1	0	10	0.00457875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.0	B	0.001	B	0.474	N	1.000	N	0.55	N	1.42	T	-1.016	T	0.020	T	0.082	0.288	5.561	-5.23	-0.472	-0.156	4.724	0.000	.	0.0074	0.00279553	0.0071	0.0024	0.0028	0	0.0175	0.0098	0.0143	0.0009	0.0068822	1064	154602	rs35968360	0.0092	0.0092	0.0093	0.0091	0.0104	0.0091	0.0090	0.0102	0.0102	0.0013	0.0045	0.0035	0	0.0185	0.0036	0.0104	0.0075	0.0011	0.0081	0.0081	0.0075	0.0086	0.0116	0.0077	0.0076	0.0109	0.0106	0.0016	0.0022	0.0084	0.0035	0	0.0208	0.0068	0.0116	0.0043	0.0008	0.233	0.18122	T	0.338	0.18125	T	0.0	0.02946	B	0.001	0.04355	B	0.474249	0.04943	N	1.306580	1	0.08975	N	0.805	0.20218	L	1.42	0.33189	T	-1.03	0.27052	N	0.079	0.05414	-1.0165	0.24852	T	0.020	0.08360	T	10	0.0035936534	0.00065	T	.	.	.	0.000	0.00003	.	.	0.0551355673512	0.04727	0.0346266740035066	0.03410	0.0212160073365	0.02100	.	.	.	0.004349	0.03758	T	-0.683536	0.00046	T	-0.742304	0.03794	T	0.00127155972297243	0.00013	T	0.40156	0.10241	T	0.03113404	0.02898	0.05029356	0.07865	0.03113404	0.02897	0.05029356	0.07864	-3.687	0.19127	T	.	.	0.084	0.09578	B	.	.	-0.054653	0.03919	0.867	0.78356953682642005	0.12266	0.02878	0.07656	N	AEFDBI	0.068778	0.13583	N	-1.5162220981235	0.01742	0.07630729	-1.56784835080549	0.01856	0.08457688	0.987366404329725	0.31248	0.497415	0.19182	0	0.59043	0.45803	0	0.514364	0.09456	0	0.613276	0.41899	0	.	.	5.06	-5.23	0.02584	-0.147000	0.10218	-0.758000	0.07548	-0.875000	0.02511	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.2382:0.0:0.2458:0.516	4.724	0.12312	527	0.73864	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1428.98	33	chr22	29060683	.	G	A	1428.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.237e+00;DP=822;ExcessHet=0.0000;FS=1.594;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=-5.720e-01;SOR=0.508	GT:AD:DP:GQ:PL	0/1:48,55:103:99:1443,0,1283	20	0	1	0
chr22	29481007	29481007	G	A	exonic	NEFH	.	nonsynonymous SNV	NEFH:NM_021076:exon1:c.G745A:p.G249S,	Charcot-Marie-Tooth disease, axonal, type 2CC, Autosomal dominant	.	414	1070	35	3	0	41	0.0187987	.	.	77642	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.9	T	0.068	B	0.013	B	0.132	N	1.000	N	-0.88	N	-1.47	T	-0.930	T	0.095	T	0.114	-0.668	1.077	-0.513	-0.145	0.411	6.298	0.195	.	0.0020	0.0107827	0.0249	0	0	0.0149	.	0.0154	0.0085	0.0296	0.0036157	559	154602	rs60825978	0.0067	0.0066	0.0058	0.0077	0.0411	0.0066	0.0066	0.0364	0.0345	0.0021	0.0047	0.0232	0.0115	0.0179	0.0411	0.0038	0.0106	0.0330	0.0072	0.0072	0.0060	0.0084	0.0414	0.0068	0.0067	0.0367	0.0349	0.0007	0	0.0057	0.0242	0.0099	0.0164	0.0479	0.0063	0.0085	0.0414	0.396	0.10623	T	1.0	0.01155	T	.	.	.	.	.	.	0.132383	0.18588	N	0.387604	1	0.08975	N	.	.	.	-1.47	0.81067	T	-0.84	0.22944	N	0.107	0.09207	-0.9298	0.44168	T	0.095	0.35818	T	10	0.0027831197	0.00044	T	.	.	.	0.195	0.47612	.	.	.	.	0.08289868046774035	0.08224	1.08208159744	0.77162	0.548835277557	0.45694	T	.	.	.	-0.472215	0.00823	T	-0.428768	0.30074	T	0.00233016498724142	0.00024	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06341	B	.	.	1.400630	0.18148	13.57	0.91404597332805682	0.20671	0.50267	0.28623	D	ALL	0.154538	0.27958	N	-1.65766043803049	0.01003	0.0434865	-1.56724859147163	0.01860	0.0847682	0.999999999998083	0.74766	0.714655	0.82082	0	0.0	0.00010	3	0.378051	0.06126	2	0.526665	0.08891	0	.	.	4.34	-0.513	0.11365	1.461000	0.34866	2.625000	0.33658	-0.109000	0.15193	0.737000	0.28995	0.998000	0.33993	0.613000	0.31716	0.3591:0.1277:0.5132:0.0	6.298	0.20305	678	0.60190	.	.	.	.	.	rs60825978	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	681.98	38	chr22	29481007	.	G	A	681.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.070e-01;DP=804;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.74;ReadPosRankSum=-2.119e+00;SOR=0.613	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,953	20	0	1	0
chr22	29489138	29489138	-	AAACAA	exonic	NEFH	.	nonframeshift insertion	NEFH:NM_021076:exon4:c.1498_1499insAAACAA:p.K502_S503insTK,	Charcot-Marie-Tooth disease, axonal, type 2CC, Autosomal dominant	.	361	1159	2	0	0	2	0.000862069	.	.	729130	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0076	0.00698882	0.0025	0.0272	0.0011	0	0	7.787e-05	0	0.0001	0.0006531	17	26028	rs576586746	0.0008	0.0008	0.0009	0.0007	0.0268	0.0008	0.0008	0.0253	0.0247	0.0268	0.0013	0	0	0	0.0005	0.0001	0.0018	5.798e-05	0.0079	0.0079	0.0080	0.0077	0.0277	0.0075	0.0073	0.0263	0.0258	0.0277	0	0.0021	0	0	0	0	8.819e-05	0.0038	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2531.94	34	chr22	29489138	.	G	GAAACAA	2531.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.730e-01;DP=921;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.64;ReadPosRankSum=-1.259e+00;SOR=0.741	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,111,1458	20	0	1	0
chr22	29544567	29544567	G	C	exonic	THOC5	.	nonsynonymous SNV	THOC5:NM_001002879:exon3:c.C133G:p.L45V	.	.	435	1051	33	3	0	39	0.0182158	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.0	B	0.0	B	0.013	N	0.705	N	-0.41	N	1.88	T	-1.075	T	0.021	T	0.155	1.884	12.26	2.45	1.451	2.272	6.672	0.026	.	0.0030	0.00958466	0.0067	0.0010	0.0023	0.0142	0.0002	0.0050	0.0099	0.0189	0.0063583	983	154602	rs61740613	0.0051	0.0051	0.0045	0.0056	0.0494	0.0050	0.0049	0.0447	0.0428	0.0019	0.0046	0.0277	0.0147	0.0004	0.0494	0.0029	0.0085	0.0205	0.0042	0.0042	0.0039	0.0045	0.0257	0.0039	0.0038	0.0220	0.0206	0.0008	0	0.0048	0.0268	0.0118	9.42e-05	0.0442	0.0031	0.0109	0.0257	0.285	0.15354	T	0.284	0.21411	T	0.0	0.02946	B	0.0	0.01387	B	0.012778	0.29061	N	0.324591	0.705251	0.30065	N	0.51	0.13489	N	1.88	0.23884	T	-0.23	0.23156	N	0.223	0.25006	-1.0755	0.08246	T	0.021	0.08732	T	10	0.0036479533	0.00067	T	.	.	.	0.026	0.05648	.	.	0.202086224978	0.19791	0.16630728857062255	0.16550	0.868458416371	0.69307	0.421358346939	0.28023	T	0.028	0.20179	T	-0.550343	0.00290	T	-0.54837	0.17482	T	0.0115453650408759	0.00174	T	0.847115	0.52772	T	0.047572292	0.08154	0.032829687	0.02079	0.047572292	0.08154	0.032829687	0.02079	-3.923	0.22647	T	.	.	0.066	0.06024	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.492594	0.32161	18.96	0.97695594081563275	0.35400	0.87414	0.46946	D	AEFDBI	.	.	.	-0.391260137649234	0.25779	1.401982	-0.165713320818619	0.32808	1.870222	0.0291413149525586	0.13871	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.78	2.45	0.28953	2.476000	0.44830	3.579000	0.39150	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0723:0.2016:0.6052:0.121	6.672	0.22265	719	0.55657	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	959.98	33	chr22	29544567	.	G	C	959.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.108;DP=773;ExcessHet=0.0000;FS=5.547;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.03;ReadPosRankSum=1.40;SOR=1.338	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1030	20	0	1	0
chr22	30264007	30264007	C	A	exonic	OSM	.	nonsynonymous SNV	OSM:NM_001319108:exon3:c.G572T:p.W191L	.	.	410	1107	4	0	1	5	0.00180343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.997	D	0.878	P	0.004	N	1.000	N	1.1	L	-0.1	T	-0.877	T	0.193	T	0.688	2.924	15.75	3.26	1.011	2.146	7.892	0.206	.	7.7e-05	0.00319489	0.0008	0	0.0005	0.0075	0	7.903e-05	0	0.0015	0.0007633	118	154602	rs115760188	0.0003	0.0003	0.0003	0.0004	0.0062	0.0003	0.0003	0.0056	0.0053	3.125e-05	0.0007	0	0.0062	1.96e-05	0.0002	4.248e-05	0.0005	0.0016	0.0004	0.0004	0.0003	0.0006	0.0070	0.0004	0.0003	0.0052	0.0046	2.405e-05	0	0.0008	0	0.0070	0	0	5.88e-05	0.0005	0.0027	0.013	0.55530	D	0.0	0.92824	D	0.997	0.70673	D	0.878	0.62312	P	0.003893	0.34365	N	0.000000	1	0.08975	N	2.125	0.59049	M	-0.1	0.64264	T	-12.69	0.99798	D	0.546	0.58968	-0.8767	0.50020	T	0.193	0.54564	T	10	0.012829393	0.00274	T	.	.	.	0.206	0.49396	.	.	0.754339385808	0.75211	0.28296322255206297	0.28209	0.826738806779	0.67440	0.411698877811	0.26691	T	0.828284	0.95873	D	-0.256706	0.13289	T	-0.138349	0.60260	T	0.0955688231634206	0.11863	T	0.565643	0.19997	T	0.64069265	0.74868	0.4835868	0.70103	0.64069265	0.74869	0.4835868	0.70103	-0.619	0.00661	T	.	.	0.740	0.74625	P	.;.	.;.	3.467509	0.48358	22.6	0.97598376598506853	0.34831	0.45535	0.27560	N	AEFBCI	0.124180	0.24012	N	-0.0197194088921428	0.40964	2.441874	-0.163860230743709	0.32878	1.874949	0.999957549693766	0.48110	0.59774	0.34471	0	0.588066	0.40923	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	4.27	3.26	0.36471	1.532000	0.35634	4.616000	0.44056	0.599000	0.40250	0.066000	0.21956	1.000000	0.68203	0.005000	0.06747	0.0:0.8874:0.0:0.1126	7.892	0.28845	339	0.86048	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1955.98	34	chr22	30264007	.	C	A	1955.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.700e-02;DP=854;ExcessHet=0.0000;FS=2.007;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.22;ReadPosRankSum=-1.652e+00;SOR=0.912	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1279	20	0	1	0
chr22	30264407	30264407	C	T	exonic	OSM	.	nonsynonymous SNV	OSM:NM_001319108:exon3:c.G172A:p.G58R	.	.	425	1095	2	0	0	2	0.000912409	.	.	2379467	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.39	T	0.974	D	0.432	B	0.201	N	1.000	N	0.975	L	0.88	T	-1.058	T	0.069	T	0.349	0.303	5.642	1.56	0.356	-0.028	6.134	0.124	0.0170308012819	7.8e-05	.	0.0001	0	0	0	0	0.0002	0	0.0001	0.0001164	18	154602	rs201309766	6.979e-05	7.046e-05	6.399e-05	7.564e-05	0.0002	5.847e-05	5.458e-05	7.31e-06	5.72e-06	2.987e-05	0	0.0027	0	1.875e-05	0.0002	1.259e-05	0.0002	2.319e-05	0.0001	0.0001	0.0001	9.414e-05	0.0003	6.512e-05	5.323e-05	8.875e-05	5.285e-05	2.413e-05	0	0.0003	0.0023	0	0	0	1.47e-05	0.0010	0	0.849	0.02760	T	0.107	0.37730	T	0.974	0.57829	D	0.432	0.45448	B	0.200627	0.16609	N	0.447704	1	0.08975	N	0.975	0.24501	L	0.88	0.46028	T	-3.05	0.62976	D	0.115	0.28849	-1.0583	0.12184	T	0.069	0.28346	T	10	0.012436718	0.00267	T	0.017031	0.38558	T	0.124	0.34239	0.608	0.74063	0.51098835382	0.50741	0.3514713097159909	0.35061	0.616651085367	0.56118	0.346108019352	0.17347	T	0.792151	0.94611	D	-0.264782	0.12344	T	-0.43659	0.29190	T	0.135352280672931	0.15868	T	0.684832	0.29327	T	0.1265225	0.29632	0.10349002	0.24831	0.1265225	0.29632	0.10349002	0.24830	-3.892	0.22182	T	.	.	0.271	0.50527	B	.;.	.;.	1.102738	0.14872	11.40	0.77363440788990545	0.11845	0.06112	0.12089	N	AEFBCI	0.074140	0.14852	N	-0.578131697500554	0.19610	1.027672	-0.739898980609514	0.15971	0.8426153	0.99972530039703	0.42220	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.73	1.56	0.22423	-0.144000	0.10263	0.268000	0.16624	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.096000	0.18090	0.0:0.7583:0.0:0.2417	6.134	0.19440	338	0.86082	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	373.98	33	chr22	30264407	.	C	T	373.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.82;DP=743;ExcessHet=0.0000;FS=2.717;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.13;ReadPosRankSum=-4.180e-01;SOR=1.162	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1279	20	0	1	0
chr22	30366082	30366082	G	A	exonic	CCDC157	.	nonsynonymous SNV	CCDC157:NM_001017437:exon3:c.G82A:p.V28I	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.996	D	.	.	1.000	D	1.905	M	1.25	T	-0.595	T	0.283	T	0.415	3.622	18.43	5.36	2.685	7.250	17.241	0.157	0.0141185052877	0.0002	.	8.273e-05	0	0	0	0	0.0001	0	6.058e-05	6.47e-05	10	154602	rs368016774	4.182e-05	4.241e-05	4.64e-05	3.72e-05	0.0028	3.318e-05	3.007e-05	0.0017	0.0014	0	2.236e-05	0	0	3.975e-05	0.0028	2.878e-05	9.942e-05	4.637e-05	6.566e-05	6.561e-05	3.855e-05	9.401e-05	0.0001	3.514e-05	2.615e-05	4.766e-05	3.34e-05	2.406e-05	0	0	0.0003	0	0	0.0034	0.0001	0	0	0.093	0.40068	T	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	.	.	.	.	0.991652	0.41441	D	2.215	0.62545	M	0.61	0.53516	T	-0.71	0.20145	N	0.179	0.22486	-0.5953	0.65008	T	0.283	0.65468	T	9	0.25547695	0.42941	T	0.014119	0.34021	T	0.157	0.40909	.	.	0.270447802918	0.26645	0.2896293672047166	0.28875	0.0692228764324	0.07746	0.524654746056	0.42282	T	0.020941	0.16396	T	-0.172807	0.24811	T	-0.299465	0.44780	T	0.134574130945683	0.15798	T	0.743826	0.36376	T	0.06278155	0.13149	0.09629504	0.22874	0.06278155	0.13149	0.09629504	0.22873	-4.058	0.24668	T	.	.	0.118	0.34116	B	.;.;.;.;.	.;.;.;.;.	3.039980	0.40753	21.2	0.99753059335246352	0.84460	0.98492	0.83351	D	AEFDBI	0.689480	0.65013	D	0.703303643594976	0.79847	7.165436	0.677825898925095	0.80698	7.35718	0.999999999938381	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	5.36	5.36	0.76624	7.325000	0.78398	7.517000	0.59705	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.328000	0.25156	0.0:0.0:1.0:0.0	17.241	0.86895	305	0.87738	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1488.98	35	chr22	30366082	.	G	A	1488.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.597;DP=858;ExcessHet=0.0000;FS=3.964;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=-5.390e-01;SOR=0.665	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1347	20	0	1	0
chr22	30374007	30374007	-	GGGAGCTGG	exonic	CCDC157	.	nonframeshift insertion	CCDC157:NM_001017437:exon9:c.1588_1589insGGGAGCTGG:p.L532_E533insGEL	.	.	412	1108	1	0	1	2	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	1.368e-06	1.363e-06	1.377e-06	8.998e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.998e-07	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	812.94	35	chr22	30374007	.	C	CGGGAGCTGG	812.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.867;DP=806;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.63;ReadPosRankSum=0.750;SOR=0.651	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1120	20	0	1	0
chr22	30461658	30461658	C	G	exonic	SEC14L3	.	nonsynonymous SNV	SEC14L3:NM_174975:exon10:c.G808C:p.V270L	.	.	432	1080	10	0	0	10	0.00460829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.000	D	1.000	D	-0.24	N	1.81	T	-1.049	T	0.027	T	0.306	2.410	14.02	4.94	2.824	3.713	11.570	0.078	.	0.0100	0.0091853	0.0039	0.0272	0.0037	0	0	0.0021	0.0049	0.0002	0.0037386	578	154602	rs114917409	0.0022	0.0022	0.0023	0.0021	0.0289	0.0021	0.0021	0.0274	0.0267	0.0289	0.0048	0.0100	0	7.531e-05	0.0148	0.0012	0.0057	0.0002	0.0088	0.0088	0.0092	0.0083	0.0255	0.0084	0.0082	0.0242	0.0237	0.0255	0	0.0091	0.0118	0	0	0.0170	0.0011	0.0080	0	0.849	0.02746	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000001	0.62929	D	0.057245	0.999998	0.58761	D	-0.345	0.03330	N	0.31	0.58613	T	-0.56	0.17003	N	0.735	0.73555	-1.0491	0.14649	T	0.027	0.11663	T	10	0.008301944	0.00188	T	.	.	.	0.078	0.22779	0.492	0.57890	0.51880533489	0.51525	0.354047608614421	0.35318	0.124429324764	0.14008	0.551303803921	0.46041	T	0.007573	0.06968	T	-0.481758	0.00722	T	-0.445192	0.28229	T	0.00762017556866538	0.00089	T	0.814719	0.46890	T	0.2970276	0.52636	0.16573685	0.38325	0.2970276	0.52636	0.16573685	0.38324	-0.98	0.00978	T	.	.	0.191	0.40968	B	.;.;.;.;.	.;.;.;.;.	2.013231	0.25586	16.81	0.98109927242421657	0.38343	0.98818	0.87255	D	AEFBI	0.497750	0.53214	N	-0.310653764955379	0.28743	1.587896	-0.0307619325477468	0.38332	2.256919	0.999765746221878	0.42728	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.95	4.94	0.64645	3.799000	0.55233	-0.292000	0.10184	0.599000	0.40250	0.998000	0.41325	0.000000	0.08366	0.928000	0.46473	0.0:0.8644:0.0:0.1356	11.570	0.50083	339	0.86048	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1091.98	39	chr22	30461658	.	C	G	1091.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.94;DP=918;ExcessHet=0.0000;FS=1.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.21;ReadPosRankSum=0.696;SOR=0.963	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chr22	30525107	30525107	C	A	exonic	SEC14L6	.	nonsynonymous SNV	SEC14L6:NM_001353443:exon11:c.G752T:p.C251F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	D	3.31	M	0.85	T	-0.085	T	0.352	T	0.763	3.074	16.26	3.69	1.602	6.958	14.199	0.432	0.0493306941547	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs866036817	2.988e-05	2.805e-05	2.306e-05	3.686e-05	0.0004	2.223e-05	2.001e-05	0.0001	0.0001	0	5.605e-05	0	0	0	0.0004	1.706e-05	5.258e-05	0.0002	1.315e-05	1.313e-05	1.285e-05	1.346e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.001	0.78490	D	0.018	0.59732	D	.	.	.	.	.	.	.	.	.	.	0.999996	0.58761	D	3.63	0.94006	H	0.85	0.47130	T	-4.57	0.78721	D	0.764	0.76203	-0.0846	0.80450	T	0.352	0.71565	T	7	0.8480339	0.83973	D	0.049331	0.63767	D	0.432	0.73807	0.64	0.77687	0.697080698451	0.69446	0.43335222811068597	0.43252	0.154770312983	0.17475	0.526930689812	0.42602	T	0.137063	0.46979	T	-0.0334698	0.46910	T	-0.049185	0.67078	D	0.975262582302094	0.70859	D	0.907609	0.67324	D	0.68642443	0.77317	0.5561165	0.74325	0.68642443	0.77318	0.5561165	0.74326	-8.962	0.67452	D	.	.	0.216	0.44566	B	.	.	3.974265	0.58384	24.0	0.9935977015987395	0.60946	0.98613	0.84704	D	AEFBI	0.946552	0.95613	D	0.544186513701789	0.69728	5.398462	0.371152260090331	0.59792	4.160194	0.999962200389644	0.48965	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	3.69	3.69	0.41483	7.049000	0.76328	4.108000	0.41903	0.531000	0.24825	1.000000	0.71638	0.999000	0.35428	0.412000	0.27050	0.0:1.0:0.0:0.0	14.199	0.65232	340	0.86005	GOLD domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1110.98	36	chr22	30525107	.	C	A	1110.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.180;DP=854;ExcessHet=0.0000;FS=0.870;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=-1.277e+00;SOR=0.859	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr22	30538899	30538899	G	A	exonic	SEC14L6	.	nonsynonymous SNV	SEC14L6:NM_001193336:exon2:c.C58T:p.R20W,	.	.	431	1064	26	1	0	28	0.012987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	D	3.485	M	-2.33	D	0.314	D	0.699	D	0.398	3.282	17.02	0.844	-0.080	2.330	6.911	0.421	.	.	0.00279553	0.0073	0.0010	0.0021	0	0.0252	0.0062	0.0081	0.0078	0.0002305	6	26028	rs9608973	0.0051	0.0051	0.0050	0.0052	0.0211	0.0050	0.0050	0.0180	0.0169	0.0007	0.0025	0.0053	8.366e-05	0.0206	0.0211	0.0045	0.0050	0.0077	0.0049	0.0049	0.0043	0.0055	0.0060	0.0046	0.0045	0.0052	0.0050	0.0010	0	0.0022	0.0060	0.0002	0.0212	0.0170	0.0056	0.0038	0.0060	0.0	0.91255	D	0.027	0.55341	D	.	.	.	.	.	.	.	.	.	.	0.99669	0.43358	D	4.245	0.98026	H	-2.33	0.87910	D	-5.68	0.87223	D	0.342	0.38335	0.314	0.87775	D	0.699	0.89624	D	7	0.008291423	0.00188	T	.	.	.	0.421	0.73005	.	.	0.914993449436	0.91413	0.8568166193691308	0.85644	0.0275583687716	0.02819	0.291940420866	0.09204	T	0.340345	0.70938	T	-0.214602	0.18737	T	-0.0730754	0.65406	T	0.129227198938751	0.15310	T	0.915608	0.69895	D	0.11142177	0.26330	0.13525529	0.32390	0.11142177	0.26330	0.13525529	0.32389	-11.409	0.81853	D	.	.	0.179	0.39029	B	.	.	2.048454	0.26042	16.98	0.99846715317920354	0.92663	0.74829	0.36616	D	AEFDBI	0.328558	0.42918	N	-0.127875198169098	0.36181	2.08796	-0.331579613762432	0.27085	1.500486	0.298767655284456	0.19166	0.646311	0.45356	0	0.563428	0.19063	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.33	0.844	0.18083	2.404000	0.44192	-0.340000	0.09823	0.618000	0.50648	0.929000	0.32243	0.000000	0.08366	0.007000	0.07825	0.1088:0.0:0.725:0.1662	6.911	0.23515	340	0.86005	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	4259.68	91	chr22	30538899	.	G	A	4259.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.590e-01;DP=1745;ExcessHet=0.3300;FS=0.845;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=0.688;SOR=0.622	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	3	0
chr22	30579802	30579802	C	T	exonic	PES1	.	nonsynonymous SNV	PES1:NM_001243225:exon12:c.G1288A:p.V430I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.048	B	0.008	B	0.023	N	1.000	D	0.515	N	1.44	T	-0.952	T	0.034	T	0.162	-0.543	1.536	-2.17	-0.718	-0.697	12.763	0.007	0.00488526083868	7.7e-05	0.000399361	4.127e-05	0.0003	0	0	0	3.005e-05	0	0	4.53e-05	7	154602	rs200061162	2.463e-05	2.463e-05	2.178e-05	2.75e-05	0.0002	1.803e-05	1.6e-05	9.75e-05	6.95e-05	0.0002	0	0	0	0	0	1.799e-05	9.935e-05	3.478e-05	6.567e-05	6.561e-05	6.424e-05	6.716e-05	0.0002	3.515e-05	2.615e-05	0.0001	9.915e-05	0.0002	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.965	0.02677	T	0.036	0.22112	B	0.004	0.13708	B	0.022643	0.26593	N	0.384511	0.999596	0.20909	N	0.19	0.09125	N	1.44	0.32722	T	0.1	0.06253	N	0.174	0.20925	-0.9518	0.40660	T	0.034	0.14683	T	10	0.01564449	0.00328	T	0.004885	0.12255	T	0.007	0.00512	.	.	0.253981072376	0.25009	0.11885074768316804	0.11812	0.200311802764	0.22433	0.261629670858	0.05086	T	0.260881	0.63230	T	-0.462624	0.00946	T	-0.622869	0.10962	T	0.00826923933923349	0.00099	T	0.644736	0.33571	T	0.012156959	0.00028	0.024492536	0.00470	0.012156959	0.00028	0.024492536	0.00469	-5.735	0.45221	T	.	.	0.067	0.03698	B	.;.;.;.;.	.;.;.;.;.	-1.314694	0.00426	0.008	0.81311549620457912	0.13623	0.11624	0.16756	N	AEFDBCI	0.047644	0.08045	N	-1.35328844063587	0.03091	0.1375337	-1.32610388336804	0.04096	0.1924805	0.557721187985373	0.21387	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.89	-2.17	0.06663	-0.676000	0.05321	-3.842000	0.02501	-1.635000	0.00848	0.001000	0.13787	0.000000	0.08366	0.835000	0.39381	0.0:0.2215:0.0:0.7785	12.763	0.56753	368	0.84463	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1640.98	37	chr22	30579802	.	C	T	1640.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.127;DP=851;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=-2.020e-01;SOR=0.668	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1206	20	0	1	0
chr22	30612919	30612919	A	G	exonic	TCN2	.	nonsynonymous SNV	TCN2:NM_000355:exon3:c.A304G:p.M102V	Transcobalamin II deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.482	P	0.192	B	0.015	N	1.000	D	1.21	L	2.55	T	-1.095	T	0.050	T	0.24	-0.164	3.200	3.28	0.371	1.840	7.372	0.022	0.00473443870241	.	.	1.653e-05	0	0	0	0	3.009e-05	0	0	1.29e-05	2	154602	rs763879488	4.104e-06	4.104e-06	5.445e-06	2.75e-06	2.987e-05	1.48e-06	9.7e-07	8.4e-07	5.7e-07	2.987e-05	2.236e-05	0	0	0	0	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.878	0.14352	T	0.395	0.15506	T	0.482	0.36779	P	0.111	0.31539	B	0.015121	0.28339	N	0.451625	0.981215	0.25056	N	2.28	0.64929	M	2.55	0.33412	T	-0.85	0.23156	N	0.258	0.33904	-1.0953	0.04709	T	0.050	0.21261	T	10	0.25811082	0.43234	T	0.004734	0.11784	T	0.022	0.04323	0.689	0.82653	0.539206206136	0.53571	0.2959239555765157	0.29505	0.00935334602833	0.00849	0.330963075161	0.15080	T	0.039826	0.25322	T	-0.22311	0.17570	T	-0.494612	0.22909	T	0.0921735609875855	0.11473	T	0.60024	0.22995	T	0.042714678	0.06527	0.04451591	0.05784	0.042714678	0.06526	0.04451591	0.05784	-2.484	0.05801	T	0.5890810490218252	0.65587	0.080	0.10594	B	.;.;.;.	.;.;.;.	2.386366	0.30640	18.50	0.80326709130820639	0.13150	0.52525	0.29152	D	AEFDBHCI	0.225850	0.34988	N	-0.253697585293724	0.30957	1.731072	-0.137262894767306	0.33903	1.944268	0.998147873922527	0.36487	0.706548	0.73137	0	0.69481	0.67340	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	5.41	3.28	0.36691	2.120000	0.41591	5.371000	0.48428	0.756000	0.94297	0.996000	0.39380	1.000000	0.68203	0.953000	0.50222	0.8193:0.0:0.1807:0.0	7.372	0.25978	583	0.69484	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	843.98	33	chr22	30612919	.	A	G	843.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.740e-01;DP=760;ExcessHet=0.0000;FS=5.801;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.81;ReadPosRankSum=0.195;SOR=0.212	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1395	20	0	1	0
chr22	30636965	30636965	T	G	exonic	SLC35E4	.	nonsynonymous SNV	SLC35E4:NM_001001479:exon1:c.T515G:p.L172R	.	.	417	1101	4	0	0	4	0.00181324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	1.0	D	0.999	D	0.000	D	1.000	D	1.795	L	0.34	T	-0.650	T	0.225	T	0.934	4.441	23.6	5.16	1.950	5.506	14.006	0.453	0.218350224788	0.0048	0.000998403	0.0040	0.0024	0.0021	0	0.0023	0.0063	0	0.0003	0.0036739	568	154602	rs150781327	0.0073	0.0073	0.0075	0.0071	0.0089	0.0072	0.0072	0.0088	0.0087	0.0013	0.0022	0.0032	0	0.0025	0.0007	0.0089	0.0064	0.0004	0.0046	0.0046	0.0049	0.0042	0.0078	0.0043	0.0042	0.0073	0.0071	0.0019	0	0.0025	0.0055	0	0.0020	0	0.0078	0.0028	0	0.011	0.55530	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.92359	D	0.000001	0.84330	D	0.000000	0.999745	0.48716	D	2.095	0.58118	M	0.34	0.58176	T	-3.04	0.62863	D	0.795	0.82257	-0.6503	0.62701	T	0.225	0.58982	T	10	0.013860166	0.00293	T	0.21835	0.87654	D	0.453	0.75279	.	.	0.73424267475	0.73187	0.8167073798119885	0.81626	1.39044836185	0.84968	0.837078273296	0.87648	D	0.375368	0.73898	T	-0.0365948	0.46454	T	0.178523	0.81911	D	0.0190404299862504	0.00613	T	0.90031	0.67676	D	0.7465379	0.80667	0.64187783	0.79074	0.7465379	0.80669	0.64187783	0.79075	-15.272	0.96607	D	.	.	0.718	0.74773	P	.;.;.	.;.;.	5.237128	0.87916	29.4	0.99694801107744269	0.80180	0.88578	0.48571	D	AEFDGBHCI	0.715632	0.66773	D	0.598335569565165	0.73071	5.906532	0.582607069058296	0.73694	6.012482	0.999999999999996	0.74766	0.652421	0.48094	0	0.166054	0.03914	2	0.459711	0.06710	0	0.71	0.69187	0	.	.	5.16	5.16	0.70563	5.526000	0.66832	7.774000	0.68528	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:0.0:1.0	14.006	0.63979	584	0.69381	Sugar phosphate transporter domain;.;Sugar phosphate transporter domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2246.98	44	chr22	30636965	.	T	G	2246.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.340e+00;DP=926;ExcessHet=0.0000;FS=1.898;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=-8.300e-02;SOR=0.856	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr22	30933500	30933500	T	G	exonic	MORC2	.	nonsynonymous SNV	MORC2:NM_001303256:exon21:c.A2346C:p.E782D	Charcot-Marie-Tooth disease, axonal, type 2Z, Autosomal dominant	.	429	1089	4	0	0	4	0.00183318	.	.	649383	Charcot-Marie-Tooth_disease_axonal_type_2Z|Inborn_genetic_diseases	MONDO:MONDO:0014736,MedGen:C5569025,OMIM:616688,Orphanet:466768|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.58	T	0.024	B	0.012	B	0.004	N	1.000	D	1.555	L	2.6	T	-1.055	T	0.028	T	0.316	2.943	15.81	3.7	0.463	-0.024	8.694	0.046	0.00314179953852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.25055	T	0.495	0.11621	T	0.024	0.19075	B	0.012	0.16012	B	0.004077	0.34148	N	0.344652	0.998818	0.45492	D	1.75	0.45442	L	2.6	0.13204	T	-0.35	0.14782	N	0.32	0.36043	-1.0551	0.13013	T	0.028	0.12190	T	10	0.11469221	0.21587	T	0.003142	0.06845	T	0.046	0.12618	0.201	0.11522	0.378526890672	0.37469	0.13906440913875592	0.13829	0.137095995171	0.15461	0.437963426113	0.30299	T	0.069578	0.33743	T	-0.206404	0.19887	T	-0.534262	0.18863	T	0.19773733559954	0.20291	T	0.866213	0.56644	D	0.055444773	0.10775	0.06391983	0.12733	0.055444773	0.10774	0.06391983	0.12733	-4.204	0.26809	T	0.15147691267400054	0.17873	0.103	0.18414	B	.;.	.;.	3.008413	0.40220	21.1	0.9929986310586657	0.58577	0.79466	0.39382	D	AEFBCI	0.160334	0.28625	N	-0.362434447192939	0.26818	1.466577	-0.206571523129258	0.31300	1.770049	0.0157220698928554	0.12748	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.81	3.7	0.41607	-0.021000	0.12445	0.072000	0.14274	0.665000	0.62972	0.982000	0.35529	0.974000	0.29927	0.982000	0.59238	0.0:0.1502:0.0:0.8498	8.694	0.33446	641	0.64016	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	898.98	33	chr22	30933500	.	T	G	898.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.309e+00;DP=800;ExcessHet=0.0000;FS=2.697;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.36;ReadPosRankSum=-5.130e-01;SOR=0.784	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr22	31091747	31091747	G	A	exonic	SMTN	.	nonsynonymous SNV	SMTN:NM_001207018:exon10:c.G1700A:p.R567H	.	.	426	1094	2	0	0	2	0.000913242	.	.	729147	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.92	T	0.005	B	0.002	B	0.069	N	0.964	N	-0.69	N	0.18	T	-1.014	T	0.055	T	0.19	-0.812	0.643	3.17	0.774	0.831	5.468	0.039	.	0.0032	0.00299521	0.0009	0.0102	0.0003	0	0	3.287e-05	0	0	0.0007956	123	154602	rs116593437	0.0004	0.0004	0.0004	0.0003	0.0117	0.0003	0.0003	0.0107	0.0103	0.0117	0.0005	0	0	0	0.0002	5.22e-05	0.0007	0	0.0029	0.0029	0.0026	0.0031	0.0100	0.0026	0.0025	0.0092	0.0089	0.0100	0	0.0006	0	0	0	0	4.41e-05	0.0028	0.0002	1.0	0.00964	T	0.277	0.22895	T	0.001	0.11197	B	0.001	0.06944	B	0.068792	0.21649	N	0.236513	0.999999	0.08975	N	-1.355	0.00654	N	0.18	0.66834	T	-0.1	0.09965	N	0.111	0.13341	-1.0143	0.25561	T	0.055	0.23224	T	10	0.0018469095	0.00025	T	.	.	.	0.039	0.10176	.	.	0.248133497653	0.24425	0.2692496133024668	0.26837	0.196804405549	0.22053	0.224543750286	0.01588	T	0.032808	0.22648	T	-0.513294	0.00481	T	-0.500693	0.22275	T	0.00237547254754805	0.00025	T	0.854215	0.54045	D	0.01711628	0.00247	0.022821663	0.00300	0.01711628	0.00247	0.022821663	0.00300	-5.22	0.39144	T	.	.	0.057	0.00563	B	.;.;.;.;.	.;.;.;.;.	1.221213	0.16152	12.35	0.7674551142622239	0.11592	0.02881	0.07661	N	AEFGBI	0.045953	0.07574	N	-1.15189529137384	0.05749	0.2629024	-1.00363659961469	0.09705	0.484389	0.978638647299869	0.29943	0.706548	0.73137	0	0.653731	0.59785	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.21	3.17	0.35510	-0.108000	0.10827	4.025000	0.41286	-0.116000	0.14526	0.000000	0.06391	0.997000	0.33255	0.769000	0.36481	0.7651:0.0:0.2349:0.0	5.468	0.15950	637	0.64373	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	877.98	37	chr22	31091747	.	G	A	877.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=813;ExcessHet=0.0000;FS=1.951;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=-3.810e-01;SOR=1.016	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	20	0	1	0
chr22	31135802	31135802	A	C	exonic	PLA2G3	.	nonsynonymous SNV	PLA2G3:NM_015715:exon7:c.T1451G:p.M484R,	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.0	B	0.0	B	0.052	N	1.000	N	0.695	N	2.65	T	-0.987	T	0.011	T	0.151	1.558	11.16	-4.31	-0.752	-1.603	2.043	0.013	.	0.0027	0.00339457	0.0009	0.0099	0.0006	0	0	0	0	0.0001	0.0009056	140	154602	rs116007140	0.0003	0.0003	0.0003	0.0003	0.0107	0.0003	0.0003	0.0098	0.0094	0.0107	0.0006	0	0	0	0.0002	1.709e-05	0.0005	3.478e-05	0.0028	0.0028	0.0026	0.0030	0.0099	0.0026	0.0025	0.0091	0.0088	0.0099	0	0.0005	0	0	0	0	7.35e-05	0.0024	0.0006	0.012	0.54683	D	0.023	0.57104	D	0.0	0.02946	B	0.0	0.01387	B	0.052413	0.02036	N	1.870140	1	0.08975	N	0.345	0.11182	N	2.65	0.12676	T	-1.03	0.27052	N	0.152	0.15609	-0.9866	0.33445	T	0.011	0.04042	T	10	0.0038487911	0.00073	T	.	.	.	0.013	0.01715	.	.	0.0551355673512	0.04727	0.3575953989100997	0.35673	0.102388022642	0.11590	0.251813113689	0.03961	T	0.026701	0.19707	T	-0.616005	0.00116	T	-0.649664	0.08978	T	0.00395472411240112	0.00042	T	0.179182	0.01770	T	0.58899254	0.72096	0.25641567	0.51342	0.58899254	0.72097	0.25641567	0.51341	-0.402	0.00527	T	.	.	0.077	0.06341	B	.	.	-1.194307	0.00536	0.013	0.68255368631262248	0.08602	0.01253	0.04406	N	AEFGBI	0.059973	0.11365	N	-1.16172435047825	0.05589	0.2552121	-1.236275219561	0.05338	0.2540657	0.993060692528939	0.33071	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.586402	0.36253	0	.	.	5.38	-4.31	0.03443	-1.481000	0.02428	-1.788000	0.04725	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.286000	0.24163	0.2596:0.3815:0.2348:0.1241	2.043	0.03338	624	0.65661	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	489.98	33	chr22	31135802	.	A	C	489.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.114;DP=752;ExcessHet=0.0000;FS=2.278;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.45;ReadPosRankSum=-3.050e-01;SOR=1.085	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1381	20	0	1	0
chr22	31137869	31137869	G	A	exonic	PLA2G3	.	stopgain	PLA2G3:NM_015715:exon4:c.C907T:p.R303X,	.	.	424	1095	2	1	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.97	T	.	.	.	.	0.002	N	1.000	A	.	.	.	.	.	.	.	.	.	4.510	24.2	-3.08	-0.509	-0.536	7.639	.	.	0.0015	0.000599042	0.0010	0.0002	0.0006	0	0.0003	0.0017	0	0.0002	0.0010349	160	154602	rs151265075	0.0016	0.0016	0.0016	0.0015	0.0019	0.0015	0.0015	0.0018	0.0018	0.0002	0.0012	0	0.0001	0.0006	0.0012	0.0019	0.0011	0.0005	0.0015	0.0015	0.0015	0.0014	0.0029	0.0013	0.0012	0.0022	0.0020	0.0003	0.0186	0.0029	0	0	0.0005	0.0102	0.0020	0.0005	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	0.001621	0.00807	N	3.027600	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.078	0.05287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00820349	0.52779	T	0.232223	0.84778	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	5.360298	0.89897	31	0.91992061223573707	0.21325	0.05239	0.11072	N	AEFDBI	0.060752	0.11567	N	-0.222696844564282	0.32204	1.81368	-0.633045105538064	0.18647	0.9970177	0.999426012814181	0.39630	0.634777	0.41761	0	0.547309	0.14657	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	4.24	-3.08	0.05022	-1.325000	0.02795	0.207000	0.15917	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.3277:0.2785:0.3938	7.639	0.27452	624	0.65661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1107.98	102	chr22	31137869	.	G	A	1107.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.440;DP=1523;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.65;ReadPosRankSum=0.434;SOR=0.714	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1045	20	0	1	0
chr22	31140088	31140088	A	T	exonic	PLA2G3	.	nonsynonymous SNV	PLA2G3:NM_015715:exon1:c.T267A:p.H89Q,	.	.	247	1243	27	5	0	37	0.0146651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.011	B	0.003	B	0.542	N	1.000	N	0.805	L	2.91	T	-0.951	T	0.010	T	0.127	-0.441	1.952	-5.44	-0.771	-0.481	7.825	0.024	.	0.0042	0.00519169	0.0065	0.0013	0.0020	0.0027	0.0008	0.0066	0.0066	0.0170	0.0060866	941	154602	rs55984643	0.0067	0.0067	0.0064	0.0070	0.0160	0.0066	0.0065	0.0153	0.0150	0.0010	0.0025	0.0049	0.0024	0.0016	0.0136	0.0067	0.0073	0.0160	0.0040	0.0040	0.0042	0.0038	0.0137	0.0037	0.0036	0.0110	0.0101	0.0008	0	0.0021	0.0052	0.0025	0.0012	0.0034	0.0062	0.0038	0.0137	0.473	0.08408	T	0.528	0.10173	T	0.011	0.15914	B	0.003	0.08700	B	0.542083	0.11525	N	0.811223	0.999997	0.08975	N	1.15	0.29295	L	2.91	0.10008	T	-1.48	0.36189	N	0.1	0.08227	-0.9510	0.40799	T	0.010	0.03856	T	10	0.003170222	0.00053	T	.	.	.	0.024	0.04979	0.256	0.19689	0.0846915920261	0.08053	0.20376811032185027	0.20293	0.0691369018457	0.07735	0.280050009489	0.07499	T	0.024555	0.18532	T	-0.679377	0.00048	T	-0.735029	0.04102	T	0.000639412999052918	0.00006	T	0.285571	0.05082	T	0.048105877	0.08330	0.08347583	0.19133	0.048105877	0.08330	0.08347583	0.19133	-2.368	0.04940	T	.	.	0.083	0.09336	B	.	.	-0.908583	0.00912	0.034	0.48977307495182992	0.04132	0.06914	0.12939	N	AEFDBCI	0.054706	0.09970	N	-1.39168245620973	0.02715	0.1202966	-1.44971714329186	0.02772	0.1281381	0.999999117941641	0.74766	0.59774	0.34471	0	0.547309	0.14657	0	0.52208	0.10781	0	0.63947	0.58350	0	.	.	5.69	-5.44	0.02419	-0.398000	0.07320	-1.564000	0.05161	-0.092000	0.16129	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.2343:0.4697:0.2961:0.0	7.825	0.28469	624	0.65661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	732.98	36	chr22	31140088	.	A	T	732.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.000e-02;DP=1001;ExcessHet=0.0000;FS=3.786;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.09;ReadPosRankSum=-2.460e-01;SOR=0.289	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1184	20	0	1	0
chr22	31573151	31573151	C	T	exonic	SFI1	.	nonsynonymous SNV	SFI1:NM_001258326:exon7:c.C613T:p.R205W	.	.	435	1084	2	1	0	4	0.00184162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.998	D	0.785	P	0.268	N	1.000	N	0	N	2.8	T	-1.019	T	0.053	T	0.305	0.403	6.186	-1.46	-0.170	-0.413	8.294	0.036	0.0121157784463	0.0014	0.000599042	0.0010	0.0001	0.0005	0	0.0003	0.0015	0	0.0002	0.0009379	145	154602	rs76914885	0.0015	0.0015	0.0015	0.0015	0.0018	0.0015	0.0014	0.0017	0.0017	0.0002	0.0011	0	0	0.0006	0.0007	0.0018	0.0011	0.0004	0.0015	0.0015	0.0016	0.0014	0.0029	0.0013	0.0012	0.0022	0.0020	0.0003	0.0187	0.0029	0	0	0.0005	0.0102	0.0020	0.0005	0.0004	0.176	0.25355	T	0.146	0.41074	T	0.002	0.73220	B	0.002	0.57495	B	0.267950	0.15184	N	0.656825	1	0.08975	N	0.855	0.21307	L	1.46	0.32238	T	-0.77	0.23590	N	0.27	0.30574	-1.0190	0.24041	T	0.053	0.22462	T	10	0.012117177	0.00262	T	0.012116	0.30406	T	0.036	0.09122	.	.	0.156986980423	0.15292	0.026659001341656805	0.02615	0.097300326521	0.10992	0.182795017958	0.00122	T	0.01028	0.09295	T	-0.528808	0.00390	T	-0.545603	0.17750	T	0.00512746303519867	0.00055	T	0.812919	0.48145	T	0.038506065	0.05144	0.039012667	0.03898	0.038506065	0.05143	0.039012667	0.03897	-6.365	0.52722	T	.	.	0.088	0.12465	B	.;.;.;.;.	.;.;.;.;.	0.330157	0.07040	3.605	0.72673217781507871	0.10055	0.01392	0.04728	N	AEFBI	0.059136	0.11145	N	-1.00442872852153	0.08511	0.3993545	-1.03357637661159	0.09051	0.4482657	1.13422059114013E-5	0.02871	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.87	-1.46	0.08338	-0.207000	0.09388	-1.197000	0.06052	-0.853000	0.02693	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.1229:0.6725:0.0:0.2046	8.294	0.31134	195	0.92448	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	929.98	34	chr22	31573151	.	C	T	929.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.068;DP=795;ExcessHet=0.0000;FS=0.804;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.57;ReadPosRankSum=-2.123e+00;SOR=0.540	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1173	20	0	1	0
chr22	31685748	31685748	T	C	exonic	PRR14L	.	nonsynonymous SNV	PRR14L:NM_173566:exon9:c.A6235G:p.I2079V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.165	B	0.019	B	0.000	N	1.000	D	-0.255	N	3.36	T	-0.856	T	0.008	T	0.186	0.913	8.713	-1.25	-0.100	-0.262	11.372	0.053	0.0274838708154	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs575667652	7.146e-07	6.84e-07	0	1.449e-06	.	0	0	.	.	0	0	0	0	2.029e-05	0	0	0	0	6.567e-06	6.562e-06	0	1.343e-05	2.407e-05	0	0	.	.	2.407e-05	0	0	0	0	0	0	0	0	0	0.197	0.20607	T	0.36	0.16964	T	0.165	0.28508	B	0.019	0.18783	B	0.000146	0.49130	N	0.205916	1	0.81001	D	0.05	0.08135	N	3.36	0.05918	T	0.03	0.06612	N	0.11	0.09631	-0.8558	0.51563	T	0.008	0.02679	T	10	0.024404556	0.00670	T	0.027484	0.50293	D	0.053	0.14996	0.176	0.08257	0.043077524339	0.03247	0.659259259361267	0.65862	2.17286694384	0.95518	0.323594212532	0.13966	T	0.004363	0.03768	T	-0.290582	0.09578	T	-0.655177	0.08595	T	0.334392845630646	0.26400	T	0.743426	0.36288	T	0.018805094	0.00404	0.04933542	0.07518	0.018805094	0.00403	0.04933542	0.07518	-4.677	0.33125	T	.	.	0.079	0.07224	B	.	.	0.300864	0.06766	3.282	0.80598643131356795	0.13279	0.02218	0.06456	N	AEFDBCI	0.052276	0.09315	N	-0.836620607101561	0.12381	0.6031894	-0.740253562577387	0.15961	0.842	0.996866803517007	0.35072	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.674467	0.66132	0	.	.	5.64	-1.25	0.08920	-0.248000	0.08872	-0.329000	0.09904	-0.109000	0.15193	0.001000	0.13787	0.000000	0.08366	0.994000	0.71098	0.0:0.5128:0.0:0.4872	11.372	0.48949	134	0.94643	Tantalus-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1764.98	33	chr22	31685748	.	T	C	1764.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.524;DP=866;ExcessHet=0.0000;FS=0.719;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.90;ReadPosRankSum=-9.070e-01;SOR=0.821	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1234	20	0	1	0
chr22	31715211	31715211	C	G	exonic	PRR14L	.	nonsynonymous SNV	PRR14L:NM_173566:exon4:c.G2628C:p.M876I,	.	.	424	1091	7	0	0	7	0.00319781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	B	0.052	B	0.278	N	1.000	N	1.59	L	3.39	T	-0.963	T	0.004	T	0.211	1.285	10.20	1.91	0.192	-0.927	5.982	0.013	.	0.0018	0.0071885	0.0030	0.0004	0.0046	0.0224	0	0.0027	0.012	0.0029	0.0010026	155	154602	rs17821493	0.0023	0.0022	0.0023	0.0024	0.0456	0.0023	0.0022	0.0437	0.0430	6.329e-05	0.0006	0.0058	0.0456	0.0002	0.0032	0.0010	0.0024	0.0033	0.0023	0.0023	0.0020	0.0026	0.0376	0.0021	0.0020	0.0333	0.0316	0.0003	0	0.0003	0.0072	0.0376	0.0003	0	0.0013	0.0009	0.0048	0.031	0.45039	D	0.214	0.26386	T	0.103	0.25884	B	0.035	0.22741	B	0.277857	0.15001	N	0.613764	1	0.08975	N	0.975	0.24501	L	3.39	0.05710	T	-1.17	0.29933	N	0.069	0.04188	-0.9625	0.38704	T	0.004	0.01295	T	9	0.002544254	0.00039	T	.	.	.	0.013	0.01715	0.121	0.02793	0.0675242888579	0.06100	0.10400514562965342	0.10330	0.0736923506408	0.08266	0.229556292295	0.01935	T	0.005364	0.04811	T	-0.63439	0.00090	T	-0.646049	0.09234	T	0.00365912394581837	0.00039	T	0.671533	0.28021	T	0.09943628	0.23466	0.107457876	0.25869	0.09943628	0.23466	0.107457876	0.25869	-2.736	0.07610	T	.	.	0.326	0.54968	B	.	.	-0.339152	0.02450	0.281	0.61914870960416613	0.06829	0.06391	0.12393	N	AEFDBHCIJ	0.045501	0.07449	N	-0.799408466645517	0.13326	0.6556577	-0.860182440445369	0.13043	0.6744485	0.999835696603834	0.43792	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.342787	0.05754	3	.	.	5.25	1.91	0.24841	-1.257000	0.02976	-0.609000	0.08231	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.0:0.5479:0.2963:0.1558	5.982	0.18643	155	0.93937	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2738.98	34	chr22	31715211	.	C	G	2738.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.326e+00;DP=1324;ExcessHet=0.0000;FS=1.566;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=-1.480e+00;SOR=0.735	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chr22	31893731	31893731	G	A	exonic	DEPDC5	.	nonsynonymous SNV	DEPDC5:NM_001242897:exon36:c.G3883A:p.A1295T	Epilepsy, familial focal, with variable foci 1, Autosomal dominant	.	429	1090	3	0	0	3	0.00137426	.	.	574118	not_provided|Inborn_genetic_diseases|Familial_focal_epilepsy_with_variable_foci	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0020310,MedGen:C1858477,OMIM:PS604364,Orphanet:98820	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.996	D	0.000	D	1.000	D	1.5	L	1.59	T	-0.775	T	0.228	T	0.839	4.444	23.7	4.1	1.143	6.343	14.173	0.239	0.0233677778124	.	.	4.255e-05	0	0.0002	0	0	4.558e-05	0	0	3.88e-05	6	154602	rs764462476	3.984e-05	4.173e-05	3.828e-05	4.142e-05	0.0003	3.126e-05	2.858e-05	0.0001	9.502e-05	6.039e-05	0.0002	0	0	0	0.0003	2.613e-05	0.0001	9.385e-05	4.601e-05	4.597e-05	3.855e-05	5.382e-05	6.545e-05	2.11e-05	1.527e-05	1.171e-05	6.25e-06	4.827e-05	0	6.545e-05	0	0	0	0	4.41e-05	0.0005	0	0.005	0.63226	D	0.038	0.51421	D	1.0	0.90584	D	0.996	0.84481	D	0.000003	0.62929	D	0.060252	0.999997	0.81001	D	1.935	0.51832	L	1.15	0.38236	T	-2.09	0.49187	N	0.552	0.75650	-0.7749	0.56587	T	0.228	0.59309	T	10	0.28142154	0.45719	T	0.023368	0.46327	T	0.251	0.56024	.	.	0.301078425253	0.29709	.	.	2.38724322197	0.97073	0.771933138371	0.77715	T	0.05929	0.31076	T	-0.0285185	0.47632	T	-0.00444166	0.70048	D	0.19173501431942	0.19946	T	0.932107	0.74696	D	0.29082054	0.52068	0.2460058	0.50100	0.29082054	0.52068	0.2460058	0.50099	-6.307	0.49307	T	0.5739794622821409	0.64101	0.297	0.60571	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.584366	0.50547	23.0	0.9992106418223643	0.98787	0.97211	0.73346	D	AEFDGBI	0.628971	0.61086	D	0.0833745978602639	0.45687	2.821164	0.0729893076905297	0.43195	2.62639	0.999999979119711	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.674467	0.66132	0	.	.	5.12	4.1	0.47196	6.460000	0.73433	8.539000	0.77485	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.854000	0.40426	0.0:0.0:0.8495:0.1505	14.173	0.65059	219	0.91485	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1026.98	34	chr22	31893731	.	G	A	1026.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.410e-01;DP=780;ExcessHet=0.0000;FS=1.894;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=3.28;SOR=0.479	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1204	20	0	1	0
chr22	32224400	32224400	C	T	exonic	SLC5A4	.	nonsynonymous SNV	SLC5A4:NM_014227:exon13:c.G1532A:p.C511Y,	.	.	429	1084	9	0	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.525	H	-0.08	T	0.158	D	0.513	D	0.985	1.862	12.18	3.85	1.273	7.470	10.889	0.619	0.0301074895197	.	0.000399361	0.0002	0	0	0	0	1.506e-05	0.0045	0.0009	0.0001423	22	154602	rs370978314	0.0001	0.0001	7.626e-05	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	0	0	0	0	1.873e-05	0.0009	1.799e-05	0.0001	0.0018	7.224e-05	7.218e-05	7.71e-05	6.715e-05	0.0008	3.969e-05	3.126e-05	0.0003	0.0002	0	0	0	0	0	0.0002	0	5.88e-05	0.0005	0.0008	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.865	0.95877	H	-0.08	0.63911	T	-10.49	0.99052	D	0.975	0.98563	0.158	0.85196	D	0.513	0.81729	D	10	0.8695377	0.86213	D	0.030107	0.52487	D	0.619	0.85196	0.838	0.94479	0.793244452484	0.79132	0.811987578086241	0.81154	0.858024298663	0.68841	0.680139780045	0.64288	T	0.241144	0.60962	T	0.0694526	0.60783	D	0.30236	0.88306	D	0.546501338481903	0.34346	D	0.926707	0.72990	D	0.93585163	0.94826	0.8286818	0.90100	0.93585163	0.94826	0.8286818	0.90100	-12.672	0.87967	D	.	.	0.870	0.80861	P	.	.	4.132097	0.61838	24.4	0.90920817515698849	0.20169	0.97544	0.75443	D	AEFBI	0.906354	0.85903	D	0.373711710504068	0.60000	4.184556	0.165589027191998	0.47975	3.019761	0.852016894688889	0.25062	0.638212	0.43195	0	0.59043	0.45803	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	4.86	3.85	0.43556	7.723000	0.83751	7.645000	0.63394	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.188000	0.21541	0.0:0.9085:0.0:0.0915	10.889	0.46190	265	0.89590	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1371.98	46	chr22	32224400	.	C	T	1371.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.520e-01;DP=924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.06;ReadPosRankSum=1.34;SOR=0.681	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	0	1	0
chr22	32233024	32233024	T	C	exonic	SLC5A4	.	nonsynonymous SNV	SLC5A4:NM_014227:exon9:c.A896G:p.Q299R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.965	D	0.982	D	0.000	D	1.000	D	3.995	H	-2.42	D	0.981	D	0.877	D	0.954	2.911	15.70	4.69	2.098	7.762	12.397	0.898	0.0427658781163	.	.	8.29e-06	0	0	0	0	1.505e-05	0	0	1.29e-05	2	154602	rs756791616	5.475e-06	5.472e-06	9.533e-06	1.376e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	6.571e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.006	0.61437	D	0.0	0.92824	D	0.965	0.56013	D	0.982	0.75477	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.395	0.91620	M	-2.42	0.88611	D	-3.88	0.72710	D	0.939	0.94550	0.981	0.96870	D	0.877	0.95904	D	10	0.9857892	0.98852	D	0.042766	0.60635	D	0.898	0.97135	0.907	0.98068	0.693223118719	0.69058	0.9572486635417619	0.95709	0.704328707761	0.61311	0.580861449242	0.50207	T	0.392316	0.75202	T	0.43427	0.91745	D	0.386022	0.91643	D	0.977867841720581	0.72047	D	0.890111	0.62362	D	0.57511425	0.71341	0.53309596	0.73021	0.57511425	0.71342	0.53309596	0.73021	-10.201	0.75106	D	.	.	0.840	0.79219	P	.	.	4.594764	0.72715	25.9	0.99770621867506293	0.85834	0.98215	0.80611	D	AEFGBI	0.923518	0.90012	D	0.77423900253216	0.84472	8.297098	0.614332274054689	0.75980	6.407495	0.999999999981489	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.491896	0.07777	0	.	.	4.69	4.69	0.58546	7.912000	0.86869	7.637000	0.63009	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.739000	0.35404	0.0:0.0:0.0:1.0	12.397	0.54723	282	0.88846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1507.98	34	chr22	32233024	.	T	C	1507.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.142e+00;DP=836;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=1.63;SOR=0.716	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1308	20	0	1	0
chr22	32419367	32419367	T	C	exonic	BPIFC	.	nonsynonymous SNV	BPIFC:NM_174932:exon12:c.A1255G:p.I419V,	.	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.515	P	0.334	B	0.009	N	1.000	N	2.24	M	3.19	T	-1.050	T	0.029	T	0.314	1.661	11.51	2.61	0.162	0.442	5.192	0.064	0.00264502753675	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.737e-06	2.736e-06	1.362e-06	4.126e-06	0.0003	6.4e-07	4.3e-07	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	8.995e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.21718	T	0.07	0.43721	T	0.454	0.36182	P	0.334	0.42203	B	0.009372	0.30392	N	0.336093	1	0.08975	N	2.825	0.82220	M	3.19	0.07353	T	-0.8	0.22078	N	0.22	0.25989	-1.0495	0.14537	T	0.029	0.12541	T	10	0.14368019	0.27276	T	0.002645	0.05377	T	0.064	0.18567	0.604	0.73586	0.238705975628	0.23479	0.4914839234327179	0.49069	0.0606122278648	0.06739	0.359556913376	0.19320	T	0.001742	0.01167	T	-0.22506	0.17308	T	-0.561059	0.16279	T	0.404847860336304	0.29124	T	0.618838	0.23746	T	0.091196485	0.21363	0.08777312	0.20425	0.091196485	0.21363	0.08777312	0.20424	-4.118	0.25555	T	.	.	0.079	0.09917	B	.;.;.	.;.;.	0.881851	0.12550	9.079	0.97852554256670732	0.36405	0.13506	0.17894	N	AEFBI	0.061003	0.11631	N	-0.334492535983296	0.27845	1.531075	-0.391641344099783	0.25245	1.38716	0.0108999405668081	0.12099	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	4.87	2.61	0.30255	0.219000	0.17426	0.854000	0.22166	-0.177000	0.10537	0.217000	0.24502	0.007000	0.19602	0.974000	0.55675	0.0:0.0972:0.1795:0.7232	5.192	0.14540	610	0.67008	Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal;.;Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	591.98	35	chr22	32419367	.	T	C	591.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.726e+00;DP=732;ExcessHet=0.0000;FS=1.342;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.58;ReadPosRankSum=0.801;SOR=0.446	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1031	20	0	1	0
chr22	32498507	32498507	G	C	exonic	FBXO7	.	nonsynonymous SNV	FBXO7:NM_001033024:exon9:c.G1309C:p.D437H	Parkinson disease 15, autosomal recessive, Autosomal recessive	.	0	1517	5	0	0	5	0.00164528	.	.	438226	not_provided|FBXO7-related_disorder|Parkinsonian-pyramidal_syndrome	MedGen:C3661900|.|MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300,Orphanet:171695	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.983	D	0.000	D	1.000	D	2.515	M	-0.62	T	0.367	D	0.668	D	0.947	3.100	16.35	6.03	2.861	7.159	20.557	0.551	0.0605068594353	0.0018	0.000399361	0.0016	0	0.0003	0	0.0050	0.0020	0	0.0012	0.0015394	238	154602	rs34316445	0.0019	0.0019	0.0019	0.0019	0.0020	0.0019	0.0018	0.0019	0.0019	0.0003	0.0005	0.0035	0	0.0041	0.0003	0.0020	0.0021	0.0015	0.0014	0.0014	0.0012	0.0016	0.0022	0.0012	0.0012	0.0019	0.0018	9.623e-05	0	0.0005	0.0037	0	0.0029	0	0.0022	0.0005	0.0015	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.973	0.75793	D	0.000000	0.84330	D	0.042471	1	0.81001	D	2.42	0.70002	M	-1.2	0.78537	T	-2.79	0.59059	D	0.909	0.93959	0.367	0.88600	D	0.668	0.88482	D	10	0.07656184	0.11976	T	0.060507	0.68023	D	0.551	0.81427	.	.	0.963964725045	0.96357	0.8000140078962561	0.79955	0.182453154757	0.20506	0.435513347387	0.29964	T	0.302706	0.67509	T	0.0674395	0.60536	T	0.318238	0.89017	D	0.0553437003452605	0.06414	T	0.923708	0.72135	D	0.4803113	0.65919	0.5031758	0.71281	0.49775705	0.66964	0.49925646	0.71049	-3.017	0.12591	T	0.5898119248325742	0.65660	0.322	0.54631	B	.;.;.	.;.;.	4.068829	0.60437	24.2	0.99361622847171815	0.61029	0.99214	0.92914	D	AEFBI	0.893372	0.83125	D	0.694809084222641	0.79291	7.047053	0.604477471008964	0.75265	6.279995	0.999994764465222	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	7.272000	0.77907	10.004000	0.83058	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.264000	0.23619	0.0:0.0:1.0:0.0	20.557	0.99307	593	0.68665	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1949.98	34	chr22	32498507	.	G	C	1949.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.710e-01;DP=869;ExcessHet=0.0000;FS=2.626;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=-1.449e+00;SOR=0.504	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1258	20	0	1	0
chr22	33277139	33277139	C	T	exonic	LARGE1	.	nonsynonymous SNV	LARGE1:NM_001378631:exon8:c.G1088A:p.R363H	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, Autosomal recessive	.	0	1509	13	0	0	13	0.00428901	.	.	101071	not_provided|not_specified|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A6|Muscular_dystrophy-dystroglycanopathy_type_B6	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013158,MedGen:C3150414,OMIM:613154,Orphanet:588,Orphanet:899|MONDO:MONDO:0012138,MedGen:C1837229,OMIM:608840,Orphanet:98894	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.982	D	0.000	D	1.000	D	1.97	M	1.84	T	-0.786	T	0.176	T	0.453	4.166	21.6	3.42	0.804	2.865	8.968	0.149	.	0.0078	0.00239617	0.0050	0.0012	0.0023	0	0.0021	0.0076	0.0022	0.0028	0.0056144	868	154602	rs1046166	0.0096	0.0096	0.0100	0.0093	0.0117	0.0095	0.0094	0.0116	0.0115	0.0019	0.0029	0.0001	0	0.0020	0.0028	0.0117	0.0063	0.0037	0.0060	0.0060	0.0067	0.0052	0.0099	0.0057	0.0055	0.0093	0.0091	0.0023	0.0647	0.0022	0	0.0002	0.0024	0	0.0099	0.0038	0.0029	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.982	0.75477	D	0.000004	0.62929	D	0.102061	0.999822	0.50806	D	.	.	.	1.84	0.50459	T	-3.43	0.68651	D	0.486	0.55886	-0.7856	0.55984	T	0.176	0.52037	T	10	0.008549035	0.00194	T	.	.	.	0.149	0.39377	.	.	0.479604954264	0.47592	0.7054452157539642	0.70486	1.6004500588	0.88685	0.542836546898	0.44846	T	0.762	0.93567	D	-0.355552	0.04388	T	-0.271179	0.47701	T	0.0229300060964148	0.01015	T	0.959004	0.85901	D	0.41365054	0.61666	0.4395907	0.67306	0.484658	0.66182	0.4395907	0.67307	-10.619	0.77528	D	0.38791358202145454	0.48147	0.112	0.41557	B	.;.;.	.;.;.	4.543299	0.71428	25.7	0.99949648034332861	0.99938	0.85569	0.44715	D	AEFBI	0.427590	0.49147	N	0.427473738169047	0.62938	4.518257	0.381065446135033	0.60397	4.22693	0.996023832251556	0.34476	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.620846	0.47308	0	.	.	5.5	3.42	0.38259	2.911000	0.48472	1.062000	0.23729	0.599000	0.40250	1.000000	0.71638	0.988000	0.31051	0.969000	0.54022	0.0:0.7185:0.0:0.2815	8.968	0.35051	869	0.31655	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3211.98	34	chr22	33277139	.	C	T	3211.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.286e+00;DP=944;ExcessHet=0.0000;FS=1.498;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=0.151;SOR=0.806	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr22	33316116	33316116	C	T	exonic	LARGE1	.	nonsynonymous SNV	LARGE1:NM_001378631:exon6:c.G661A:p.V221I	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, Autosomal recessive	.	1	1515	5	1	0	7	0.00230491	.	.	101064	Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A6|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1|Muscular_dystrophy-dystroglycanopathy_type_B6|not_specified|LARGE1-related_disorder|not_provided	MONDO:MONDO:0013158,MedGen:C3150414,OMIM:613154,Orphanet:588,Orphanet:899|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670,Orphanet:588,Orphanet:899|MONDO:MONDO:0012138,MedGen:C1837229,OMIM:608840,Orphanet:98894|MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.24	T	0.544	P	0.322	B	0.000	D	1.000	D	1.875	L	1.76	T	-0.882	T	0.172	T	0.249	3.331	17.21	4.25	1.225	5.603	13.792	0.091	0.0140547202504	0.0018	0.000199681	0.0009	0.0007	0.0003	0	0.0003	0.0014	0	0.0002	0.0008667	134	154602	rs150861748	0.0017	0.0017	0.0018	0.0016	0.0021	0.0016	0.0016	0.0020	0.0020	0.0004	0.0004	0	0	0.0004	0.0005	0.0021	0.0018	0.0002	0.0012	0.0012	0.0012	0.0011	0.0021	0.0010	0.0010	0.0018	0.0017	0.0004	0	0.0007	0	0	0.0006	0	0.0021	0	0.0002	0.171	0.22746	T	0.181	0.30339	T	0.544	0.37968	P	0.22	0.37792	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.78	0.50721	T	-0.72	0.20358	N	0.467	0.50418	-0.8825	0.49561	T	0.172	0.51357	T	10	0.026062876	0.00783	T	0.014055	0.33919	T	0.091	0.26358	.	.	0.0934897674506	0.08844	0.37553958011509997	0.37467	0.476979885373	0.46820	0.68186455965	0.64537	T	0.337792	0.70714	T	-0.43068	0.01468	T	-0.404649	0.32845	T	0.023783041164279	0.01118	T	0.886311	0.67517	D	0.121630296	0.28597	0.104113966	0.24999	0.121630296	0.28597	0.104113966	0.24998	-5.569	0.45850	T	0.28357161420575144	0.37925	0.112	0.22061	B	.;.;.;.;.;.	.;.;.;.;.;.	3.001359	0.40103	21.1	0.99754828742882973	0.84537	0.94544	0.61510	D	AEFDGBI	0.567541	0.57309	D	0.0827991372445034	0.45662	2.818948	0.146428313028648	0.46952	2.93299	0.999963893892965	0.48965	0.736574	0.97449	0	0.743671	0.97443	0	0.732669	0.93749	0	0.564101	0.26826	0	.	.	5.26	4.25	0.49658	5.679000	0.67824	4.869000	0.45548	0.591000	0.32079	1.000000	0.71638	1.000000	0.68203	0.391000	0.26581	0.0:0.9263:0.0:0.0737	13.792	0.62637	858	0.34001	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1264.98	37	chr22	33316116	.	C	T	1264.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.311;DP=822;ExcessHet=0.0000;FS=0.729;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=1.98;SOR=0.819	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1123	20	0	1	0
chr22	35551617	35551617	A	T	exonic	RASD2	.	nonsynonymous SNV	RASD2:NM_001366725:exon3:c.A386T:p.E129V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.091	B	0.065	B	0.000	D	1.000	D	0.495	N	-0.61	T	-0.766	T	0.215	T	0.668	4.844	27.6	5.62	2.142	9.224	15.806	0.410	0.043483305698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.31383	T	0.183	0.29153	T	0.091	0.25247	B	0.065	0.27321	B	0.000000	0.84330	D	0.043563	0.999998	0.58761	D	0.6	0.15550	N	-0.61	0.71779	T	-2.27	0.50666	N	0.694	0.69913	-0.7665	0.57049	T	0.215	0.57613	T	10	0.63801414	0.68894	D	0.043483	0.61007	D	0.410	0.72176	0.545	0.65873	0.752930276546	0.75069	0.7675069577463074	0.76699	1.94467123622	0.93298	0.561038970947	0.47415	T	0.393607	0.75297	T	0.10904	0.65252	D	-0.0811476	0.64819	T	0.934168577194214	0.60144	D	0.947205	0.79675	D	0.24674438	0.47646	0.29306716	0.55334	0.24674438	0.47646	0.29306716	0.55334	-11.007	0.79696	D	.	.	0.188	0.40554	B	.	.	3.817760	0.55106	23.6	0.99376022959391308	0.61671	0.99414	0.95724	D	AEFDBI	0.889010	0.82269	D	0.0988564171787007	0.46409	2.881698	0.309969253130085	0.56123	3.775476	0.999999999974497	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.62	5.62	0.85714	9.211000	0.94222	11.309000	0.92418	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	15.806	0.78287	870	0.31527	Small GTP-binding protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1393.98	41	chr22	35551617	.	A	T	1393.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.440e+00;DP=839;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.81;ReadPosRankSum=1.90;SOR=0.633	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1211	20	0	1	0
chr22	35658950	35658950	C	T	exonic	APOL6	.	nonsynonymous SNV	APOL6:NM_030641:exon3:c.C386T:p.T129M,	.	.	429	1083	9	1	0	11	0.00505282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.005	B	0.004	B	0.098	N	1.000	N	-0.7	N	3.93	T	-0.956	T	0.006	T	0.099	0.099	4.536	1.99	0.250	0.056	6.309	0.030	0.00173868611002	0.0017	0.000599042	0.0011	0.0003	0.0012	0	0	0.0018	0.0022	0.0001	0.0010284	159	154602	rs148655812	0.0009	0.0009	0.0009	0.0009	0.0035	0.0009	0.0009	0.0023	0.0019	0.0003	0.0016	0.0156	2.52e-05	0	0.0035	0.0006	0.0017	0.0002	0.0011	0.0011	0.0011	0.0010	0.0012	0.0009	0.0009	0.0008	0.0008	0.0001	0	0.0012	0.0179	0	0	0.0034	0.0010	0.0028	0.0002	0.4	0.10482	T	0.475	0.12072	T	0.005	0.12996	B	0.004	0.10090	B	0.098321	0.02523	N	1.875430	1	0.08975	N	-0.75	0.01730	N	3.93	0.03435	T	1.88	0.00467	N	0.039	0.01274	-0.9564	0.39843	T	0.006	0.02131	T	10	0.00320673	0.00054	T	0.001739	0.02934	T	0.030	0.07022	.	.	0.141422826196	0.13715	0.34514354692216964	0.34428	0.170673729105	0.19233	0.270285248756	0.06178	T	0.01532	0.12876	T	-0.654822	0.00068	T	-0.743462	0.03746	T	0.000962655513190271	0.00009	T	0.333467	0.07063	T	0.010551167	0.00008	0.02241543	0.00267	0.010551167	0.00008	0.02241543	0.00266	-3.682	0.19052	T	.	.	0.074	0.05145	B	.	.	0.028372	0.04481	1.194	0.21632141578199093	0.00833	0.00032	0.00291	N	AEFBI	0.021000	0.00888	N	-1.29591003158858	0.03724	0.1668809	-1.25546395137915	0.05050	0.2397411	0.992659981300732	0.32919	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	4.14	1.99	0.25423	0.576000	0.23446	-0.580000	0.08381	-0.701000	0.04053	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3091:0.0:0.6909	6.309	0.20362	671	0.60868	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3442.11	35	chr22	35658950	.	C	T	3442.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.54;DP=1035;ExcessHet=0.1072;FS=0.489;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.16;ReadPosRankSum=0.316;SOR=0.641	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1132	19	0	2	0
chr22	35659460	35659460	G	T	exonic	APOL6	.	nonsynonymous SNV	APOL6:NM_030641:exon3:c.G896T:p.R299M,	.	.	426	1092	3	1	0	5	0.00228415	.	.	2757613	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.788	P	0.006	N	1.000	N	1.95	M	3.69	T	-1.070	T	0.035	T	0.35	2.824	15.41	1.47	0.402	0.343	5.271	0.087	0.00197415991504	0.0002	0.000199681	0.0004	0	0.0007	0	0	0.0005	0.0011	0.0001	0.0003363	52	154602	rs143747983	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	0.0002	0.0007	0.0021	0	0	0.0014	0.0001	0.0007	0.0002	0.0002	0.0002	0.0003	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	2.407e-05	0	0.0002	0.0020	0	0	0.0034	0.0003	0.0009	0.0002	0.008	0.58626	D	0.069	0.43913	T	0.997	0.70673	D	0.788	0.57636	P	0.006453	0.01126	N	2.690230	1	0.08975	N	0.805	0.20218	L	3.69	0.04114	T	-1.22	0.30964	N	0.169	0.17966	-1.0704	0.09326	T	0.035	0.14857	T	10	0.015891016	0.00334	T	0.001974	0.03535	T	0.087	0.25287	.	.	0.315314060047	0.31143	0.10075640711837991	0.10006	0.577070027073	0.53648	0.285135239363	0.08218	T	0.03494	0.23521	T	-0.461066	0.00968	T	-0.538155	0.18478	T	0.0644436297534594	0.07848	T	0.39826	0.10085	T	0.05755945	0.11469	0.039490785	0.04053	0.05755945	0.11469	0.039490785	0.04052	-4.58	0.31920	T	.	.	0.27	0.50417	B	.	.	2.103594	0.26765	17.23	0.95407072372017221	0.26866	0.11553	0.16710	N	AEFBI	0.034009	0.04140	N	-0.220906233430654	0.32275	1.81855	-0.463668493776469	0.23162	1.261718	0.999734558564278	0.42341	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	2.51	1.47	0.21832	-0.346000	0.07809	0.850000	0.22129	0.596000	0.33519	0.000000	0.06391	0.002000	0.18203	0.427000	0.27384	0.1716:0.0:0.8284:0.0	5.271	0.14935	671	0.60868	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1389.98	35	chr22	35659460	.	G	T	1389.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.248e+00;DP=889;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.18;ReadPosRankSum=0.103;SOR=0.675	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1132	20	0	1	0
chr22	36141727	36141727	C	T	exonic	APOL3	.	nonsynonymous SNV	APOL3:NM_145640:exon3:c.G682A:p.A228T	.	.	420	1018	81	3	0	87	0.0409797	.	.	705913	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.38	T	0.788	P	0.397	B	0.363	N	1.000	N	-0.315	N	3.77	T	-0.885	T	0.005	T	0.277	1.181	9.803	-0.313	-0.036	-0.458	8.410	0.074	.	0.0016	0.00479233	0.0070	0.0008	0.0023	0	0.0005	0.0038	0.0133	0.0327	0.0061254	947	154602	rs142057520	0.0045	0.0045	0.0036	0.0055	0.0304	0.0044	0.0044	0.0294	0.0290	0.0005	0.0032	0.0141	7.558e-05	0.0003	0.0213	0.0026	0.0063	0.0304	0.0032	0.0032	0.0029	0.0036	0.0284	0.0030	0.0029	0.0245	0.0231	0.0005	0.0066	0.0036	0.0092	0	0.0005	0.0238	0.0031	0.0071	0.0284	0.169	0.22920	T	0.417	0.14241	T	0.788	0.44546	P	0.397	0.44399	B	0.363263	0.13638	N	0.721939	1	0.08975	N	0.565	0.15224	N	3.77	0.03863	T	-1.02	0.46503	N	0.096	0.07673	-0.8850	0.49357	T	0.005	0.01725	T	10	0.0064413548	0.00146	T	.	.	.	0.074	0.21613	.	.	0.132336055621	0.12781	0.2831281995449334	0.28225	0.165414910226	0.18654	0.269489645958	0.06074	T	0.00967	0.08788	T	-0.61773	0.00114	T	-0.637106	0.09882	T	0.00338090782887009	0.00036	T	0.429857	0.18668	T	0.05087492	0.09258	0.053812385	0.09136	0.05087492	0.09257	0.053812385	0.09136	-5.036	0.42379	T	.	.	0.093	0.24396	B	.;.;.;.;.	.;.;.;.;.	-1.301766	0.00437	0.009	0.79448850851242914	0.12746	0.01032	0.03867	N	AEFDGBI	0.058757	0.11046	N	-1.11327166648079	0.06406	0.2947806	-1.19366562473892	0.06015	0.2882774	0.926062391168158	0.26838	0.67177	0.52595	0	0.702456	0.74545	0	0.491513	0.07944	0	0.635551	0.53088	0	.	.	4.3	-0.313	0.12121	-1.049000	0.03625	-15.654000	0.00347	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6561:0.0:0.3439	8.410	0.31799	507	0.75469	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	5152.68	35	chr22	36141727	.	C	T	5152.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-9.920e-01;DP=1479;ExcessHet=0.3300;FS=2.813;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=14.72;ReadPosRankSum=0.535;SOR=0.653	GT:AD:DP:GQ:PL	0/1:60,61:121:99:1727,0,1697	18	0	3	0
chr22	36141823	36141823	C	T	exonic	APOL3	.	nonsynonymous SNV	APOL3:NM_145640:exon3:c.G586A:p.A196T	.	.	415	1103	3	1	0	5	0.00226142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.98	D	0.463	P	0.807	N	1.000	N	-0.52	N	3.69	T	-0.920	T	0.005	T	0.154	1.080	9.409	-0.295	-0.030	-2.685	7.566	0.145	0.00581829593774	0.0040	0.000998403	0.0030	0.0011	0.0035	0	0.0009	0.0044	0.0011	0.0012	0.0030336	469	154602	rs140252051	0.0048	0.0048	0.0050	0.0046	0.0055	0.0047	0.0047	0.0054	0.0053	0.0007	0.0025	0.0099	0	0.0010	0.0040	0.0055	0.0055	0.0011	0.0033	0.0033	0.0036	0.0030	0.0053	0.0031	0.0030	0.0048	0.0046	0.0013	0	0.0020	0.0112	0	0.0009	0.0068	0.0053	0.0043	0.0006	0.62	0.05309	T	0.816	0.05146	T	0.98	0.59353	D	0.463	0.46548	P	0.806779	0.09281	N	0.919146	1	0.08975	N	0.36	0.11994	N	3.69	0.04114	T	-0.81	0.22294	N	0.147	0.15046	-0.9203	0.45513	T	0.005	0.01651	T	10	0.005380869	0.00118	T	0.005818	0.15131	T	0.145	0.38592	.	.	0.107399877778	0.10242	0.2811822284359578	0.28031	0.143658087998	0.16218	0.250289916992	0.03798	T	0.007452	0.06855	T	-0.648824	0.00074	T	-0.703951	0.05612	T	0.00844653624535999	0.00102	T	0.416058	0.11413	T	0.054770295	0.10553	0.049317155	0.07511	0.054770295	0.10552	0.049317155	0.07510	-7.125	0.54941	T	.	.	0.115	0.23113	B	.;.	.;.	-1.238452	0.00493	0.011	0.76810680461936132	0.11619	0.01404	0.04755	N	AEFDBI	0.061105	0.11659	N	-1.13830191988212	0.05975	0.2738227	-1.22935416762272	0.05444	0.2593925	0.754610472753901	0.23413	0.67177	0.52595	0	0.702456	0.74545	0	0.527494	0.11647	0	0.635551	0.53088	0	.	.	4.3	-0.295	0.12192	-2.331000	0.01190	-20.000000	0.00162	-2.806000	0.00184	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5334:0.0:0.4666	7.566	0.27046	507	0.75469	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2849.98	35	chr22	36141823	.	C	T	2849.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.690e-01;DP=1346;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=0.492;SOR=0.713	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr22	36160788	36160788	C	A	exonic	APOL3	.	nonsynonymous SNV	APOL3:NM_145640:exon1:c.G104T:p.G35V,	.	.	416	1076	30	0	0	30	0.0137489	.	.	758066	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.15	T	0.808	P	0.356	B	0.043	U	1.000	N	0	N	3.31	T	-1.000	T	0.011	T	0.082	0.874	8.543	-5.08	-0.880	-1.939	8.683	0.077	0.00399405702194	0.0008	0.00179712	0.0021	9.651e-05	0.0022	0	0.0002	0.0013	0.0011	0.0081	0.001934	299	154602	rs148885226	0.0013	0.0013	0.0011	0.0016	0.0080	0.0013	0.0013	0.0074	0.0072	5.974e-05	0.0021	0.0007	0	0.0002	0.0080	0.0009	0.0016	0.0078	0.0011	0.0011	0.0010	0.0013	0.0081	0.0010	0.0009	0.0061	0.0054	0.0001	0	0.0031	0.0012	0.0002	0	0	0.0010	0.0014	0.0081	0.009	0.57480	D	0.023	0.57104	D	0.808	0.45299	P	0.356	0.43023	B	0.043271	0.01917	U	37.602300	1	0.81001	D	0	0.06538	N	3.31	0.06291	T	-0.27	0.11366	N	0.151	0.15469	-1.0002	0.29860	T	0.011	0.04321	T	10	0.0037358105	0.00069	T	0.003994	0.09462	T	0.077	0.22490	.	.	0.257786959452	0.25393	0.078363107641043	0.07772	0.691787299004	0.60617	0.210936486721	0.00852	T	0.001527	0.00969	T	-0.653267	0.00069	T	-0.707424	0.05429	T	0.0420518779235941	0.04064	T	0.286771	0.05140	T	0.057427566	0.11427	0.082281806	0.18768	0.057427566	0.11427	0.082281806	0.18767	-3.39	0.14922	T	.	.	0.154	0.34071	B	.	.	-0.212215	0.03029	0.463	0.88461662680239472	0.17995	0.05534	0.11427	N	ALL	0.105165	0.21021	N	-1.03137101328716	0.07958	0.3714873	-1.24005897005935	0.05280	0.2511918	0.99999999041564	0.74766	0.428477	0.06694	0	0.374146	0.05931	1	0.547309	0.15389	0	0.607083	0.38531	0	.	.	2.76	-5.08	0.02708	-2.118000	0.01412	-12.434000	0.00525	0.528000	0.24546	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2572:0.6312:0.1116	8.683	0.33384	471	0.78036	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1744.98	36	chr22	36160788	.	C	A	1744.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.408;DP=1041;ExcessHet=0.0000;FS=5.056;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=-1.194e+00;SOR=0.441	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,114,1710	20	0	1	0
chr22	36227655	36227655	C	A	exonic	APOL2	.	stopgain	APOL2:NM_030882:exon5:c.G763T:p.E255X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	T	.	.	.	.	0.638	N	1.000	D	.	.	.	.	.	.	.	.	.	2.432	14.09	0.094	-0.146	-0.152	0.853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.638208	0.05852	N	1.186950	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244707	0.78104	D	0.113728	0.77818	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive	.;.;High	4.700427	0.75409	26.3	0.96897571075513667	0.31523	0.01732	0.05474	N	AEFDBHI	0.031705	0.03443	N	-0.314676139406015	0.28589	1.578193	-0.688775489018297	0.17240	0.9158465	0.998919003679291	0.37962	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.82	0.094	0.13789	-0.406000	0.07249	-20.000000	0.00162	-0.381000	0.05390	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1956:0.1179:0.202:0.4845	0.853	0.01101	615	0.66512	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	784.98	39	chr22	36227655	.	C	A	784.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.354e+00;DP=1280;ExcessHet=0.0000;FS=228.018;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=3.09;ReadPosRankSum=3.20;SOR=8.155	GT:AD:DP:GQ:PL	0/0:72,0:72:99:0,120,1800	20	0	1	0
chr22	36227959	36227959	C	T	exonic	APOL2	.	nonsynonymous SNV	APOL2:NM_030882:exon5:c.G459A:p.M153I	.	.	27	1464	30	1	0	32	0.0108108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.126	B	0.096	B	0.028	N	1.000	N	0.895	L	4.14	T	-0.932	T	0.009	T	0.085	-0.138	3.324	-3.79	-0.836	-2.301	8.579	0.023	0.00233605697159	0.0009	0.00179712	0.0022	0	0.0005	0	0.0003	0.0016	0.0011	0.0087	0.0020634	319	154602	rs200488207	0.0016	0.0016	0.0013	0.0020	0.0094	0.0016	0.0015	0.0089	0.0087	8.961e-05	0.0010	7.652e-05	0	0.0010	0.0071	0.0012	0.0021	0.0094	0.0010	0.0010	0.0010	0.0011	0.0079	0.0009	0.0008	0.0059	0.0052	0.0002	0	0.0007	0	0	0.0005	0.0034	0.0013	0.0014	0.0079	0.334	0.12961	T	0.559	0.10138	T	.	.	.	.	.	.	0.027806	0.01674	N	2.001260	1	0.08975	N	.	.	.	4.14	0.02839	T	-0.66	0.19085	N	0.046	0.02861	-0.9321	0.43829	T	0.009	0.03011	T	10	0.010323375	0.00230	T	0.002336	0.04507	T	0.023	0.04649	0.485	0.56780	0.0716867268079	0.06686	0.16648136821727322	0.16568	0.101037800964	0.11422	0.28577670455	0.08311	T	9.07E-4	0.00463	T	-0.701736	0.00036	T	-0.774798	0.02614	T	0.0123231575730099	0.00200	T	0.270573	0.04555	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288	0.54064	B	.;.;.	.;.;.	-2.863662	0.00013	0.001	0.54460281740649141	0.05142	0.00572	0.02591	N	AEFGBI	0.036512	0.04877	N	-1.31215000778755	0.03535	0.1580791	-1.42177051027157	0.03035	0.1408186	0.987154519355852	0.31196	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.66	-3.79	0.04037	-2.478000	0.01061	-12.543000	0.00517	-0.447000	0.05153	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4315:0.0:0.5685	8.579	0.32779	619	0.66147	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3363.11	39	chr22	36227959	.	C	T	3363.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.669;DP=1109;ExcessHet=0.1072;FS=4.688;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=1.27;SOR=0.706	GT:AD:DP:GQ:PL	0/1:67,67:134:99:1721,0,1971	19	0	2	0
chr22	36265156	36265156	A	T	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.A266T:p.E89V	.	.	0	1513	9	0	0	9	0.0029654	.	.	1052133	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.999	D	0.966	D	0.040	N	0.970	N	2.475	M	3.59	T	-1.141	T	0.040	T	0.422	2.217	13.37	2.35	1.328	1.892	6.685	0.063	0.00270230265822	.	.	4.98e-05	0	0	0	0	4.527e-05	0	0.0002	3.88e-05	6	154602	rs780653482	2.121e-05	2.121e-05	1.361e-05	2.888e-05	0.0010	1.52e-05	1.324e-05	0.0005	0.0003	0	0	0	0	0	0.0010	7.194e-06	1.656e-05	0.0002	6.571e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.966	0.71341	D	0.039826	0.24126	N	0.423635	1	0.25743	N	2.305	0.65957	M	3.59	0.04544	T	-6.27	0.90648	D	0.15	0.21188	-1.1411	0.01318	T	0.040	0.17362	T	10	0.63143617	0.68539	D	0.002702	0.05550	T	0.063	0.18251	0.746	0.87738	0.572623985369	0.56930	0.3563416701615257	0.35548	0.385980496119	0.39890	0.401006579399	0.25209	T	0.052976	0.29314	T	-0.293915	0.09247	T	-0.423296	0.30697	T	0.709237813949585	0.41163	D	0.743426	0.36288	T	0.3042759	0.53285	0.271764	0.53080	0.3042759	0.53285	0.271764	0.53079	-6.948	0.57835	T	.	.	0.502	0.64740	A	.;.;.;.;.;.	.;.;.;.;.;.	2.902462	0.38477	20.7	0.98812826847654978	0.46655	0.49724	0.28499	N	AEFBI	0.203841	0.33032	N	0.0192535934745214	0.42730	2.580204	-0.220310951671899	0.30808	1.737902	0.94924029317975	0.27837	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.683762	0.67416	0	.	.	2.35	2.35	0.28166	1.869000	0.39156	7.039000	0.57330	0.560000	0.28382	0.375000	0.25965	0.876000	0.27648	0.004000	0.06068	1.0:0.0:0.0:0.0	6.685	0.22331	503	0.75780	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1394.98	78	chr22	36265156	.	A	T	1394.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.114e+00;DP=1328;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.23;ReadPosRankSum=1.69;SOR=0.671	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	20	0	1	0
chr22	36265344	36265344	A	-	exonic	APOL1	.	frameshift deletion	APOL1:NM_001136541:exon5:c.454delA:p.G153Afs*19	.	.	0	1516	6	0	0	6	0.00197498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.149e-05	0	0	0	0	6.02e-05	0	6.28e-05	3.23e-05	5	154602	rs757661619	8.222e-06	8.209e-06	2.726e-06	1.378e-05	0.0002	4.39e-06	3.46e-06	3.004e-05	2.044e-05	0	0	0	0	0	0.0002	4.502e-06	0	6.982e-05	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2412.94	151	chr22	36265343	.	CA	C	2412.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.480;DP=3014;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.98;ReadPosRankSum=0.455;SOR=0.688	GT:AD:DP:GQ:PL	0/0:177,0:177:99:0,120,1800	20	0	1	0
chr22	36265601	36265601	G	C	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.G711C:p.R237S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.002	B	0.001	B	0.001	N	1.000	N	0.345	N	3.93	T	-0.936	T	0.006	T	0.17	-0.705	0.957	-6.25	-2.958	-2.146	1.741	0.011	0.000907701874081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.085e-06	0.0006	2.76e-06	1.4e-06	2.728e-06	5.6e-07	1.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.728e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.30375	T	0.283	0.46632	T	0.002	0.09854	B	0.001	0.04355	B	0.000540	0.00634	N	5.050130	1	0.08975	N	0	0.06538	N	3.93	0.03435	T	-0.32	0.12283	N	0.052	0.05287	-0.9365	0.43164	T	0.006	0.02131	T	10	0.08132845	0.13302	T	9.08E-4	0.00866	T	0.011	0.01250	0.408	0.44230	0.185906805712	0.18197	0.18011142860078055	0.17930	0.0660165172608	0.07365	0.244562089443	0.03216	T	0.00853	0.07826	T	-0.342634	0.05208	T	-0.729947	0.04330	T	0.0890489221116852	0.11104	T	0.716728	0.32905	T	0.07998894	0.18304	0.038347237	0.03684	0.07998894	0.18304	0.038347237	0.03684	-1.822	0.02808	T	.	.	0.273	0.50708	B	.;.;.;.;.	.;.;.;.;.	-2.042542	0.00092	0.002	0.34530247570989991	0.02117	0.00520	0.02423	N	AEFDBI	0.218833	0.34379	N	-1.93437648620656	0.00291	0.01250946	-2.04200221281962	0.00249	0.0109851	0.999770420652857	0.42865	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.12	-6.25	0.01863	-2.263000	0.01256	-8.769000	0.00916	-1.311000	0.01235	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2299:0.2804:0.3507:0.139	1.741	0.02774	489	0.76795	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	234.82	143	chr22	36265601	.	G	C	234.82	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.960e+00;DP=2907;ExcessHet=0.0000;FS=168.767;InbreedingCoeff=-0.0566;MLEAC=1;MLEAF=0.026;MQ=60.00;MQRankSum=0.00;QD=1.51;ReadPosRankSum=2.06;SOR=9.750	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:114,0:114:99:.:.:0,120,1800	18	0	1	2
chr22	36265604	36265604	G	C	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.G714C:p.E238D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.997	D	0.992	D	0.771	N	1.000	N	1.9	L	3.83	T	-1.024	T	0.022	T	0.109	2.068	12.87	-6.25	-1.115	-0.527	0.870	0.082	0.00111242078578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.916e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.19157	T	0.196	0.28860	T	0.992	0.64738	D	0.989	0.78396	D	0.770951	0.06597	N	1.103480	1	0.08975	N	1.665	0.42610	L	3.83	0.03702	T	-1.87	0.43717	N	0.092	0.11483	-1.0243	0.22311	T	0.022	0.09421	T	10	0.27728033	0.45294	T	0.001112	0.01336	T	0.082	0.23913	0.507	0.60232	0.53906709209	0.53559	0.16556427240615473	0.16476	0.360721973955	0.37738	0.259047538042	0.04778	T	0.012596	0.11043	T	-0.333464	0.05853	T	-0.716774	0.04953	T	0.245490476489067	0.22670	T	0.777122	0.41012	T	0.06793174	0.14756	0.04626168	0.06409	0.06793174	0.14756	0.04626168	0.06409	-3.75	0.20954	T	.	.	0.137	0.29779	B	.;.;.;.;.	.;.;.;.;.	0.291250	0.06675	3.178	0.98905130924322504	0.48254	0.01941	0.05908	N	AEFDBI	0.220069	0.34487	N	-0.670268106369882	0.16873	0.8634436	-1.02054216251253	0.09334	0.4637797	0.994276953357058	0.33564	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.12	-6.25	0.01863	-0.470000	0.06717	-7.429000	0.01158	-1.187000	0.01379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.341:0.3049:0.2002:0.1539	0.870	0.01134	489	0.76795	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.03125	364.04	140	chr22	36265604	.	G	C	364.04	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-4.697e+00;DP=2923;ExcessHet=0.0000;FS=398.004;InbreedingCoeff=-0.0918;MLEAC=1;MLEAF=0.031;MQ=60.00;MQRankSum=0.00;QD=2.14;ReadPosRankSum=3.61;SOR=9.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:131,0:131:69:.:.:0,69,3095	15	0	1	5
chr22	36265782	36265782	G	T	exonic	APOL1	.	stopgain	APOL1:NM_001136541:exon5:c.G892T:p.E298X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	.	.	.	.	0.618	N	1.000	D	.	.	.	.	.	.	.	.	.	3.773	19.16	-2.28	-0.449	-1.035	3.413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.617745	0.05738	N	1.200530	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.79	0.78737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299787	0.82950	D	0.192847	0.82730	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Tolerant;.	.;.;.;High;.	5.111238	0.85445	28.6	0.94747486642744438	0.25445	0.01550	0.05082	N	AEFDBI	0.051060	0.08984	N	-0.28464942149091	0.29742	1.651984	-0.709861734847565	0.16715	0.8855342	0.64071294737418	0.22051	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	3.18	-2.28	0.06438	-1.743000	0.01933	-20.000000	0.00162	-0.266000	0.06809	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4028:0.0:0.402:0.1951	3.413	0.06937	489	0.76795	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1905	3603.9	128	chr22	36265782	.	G	T	3603.9	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-2.811e+00;DP=3016;ExcessHet=3.5521;FS=129.024;InbreedingCoeff=-0.2353;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=2.90;ReadPosRankSum=0.599;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:144,0:144:99:.:.:0,120,1800	13	0	8	0
chr22	36265787	36265787	G	T	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.G897T:p.Q299H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.832	P	0.6	P	0.486	N	1.000	N	2	M	3.59	T	-0.987	T	0.028	T	0.143	1.827	12.07	0.676	0.477	1.048	7.454	0.076	0.00174566368718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.33753	T	0.05	0.50514	T	0.832	0.46138	P	0.6	0.50752	P	0.486182	0.05010	N	1.272740	1	0.08975	N	1.98	0.53716	M	3.59	0.04544	T	-3.32	0.66085	D	0.056	0.07262	-0.9872	0.33298	T	0.028	0.11926	T	10	0.41554847	0.56516	T	0.001746	0.02934	T	0.076	0.22200	0.787	0.90993	0.536147182381	0.53264	0.1934163824026781	0.19259	0.198314738213	0.22208	0.238215714693	0.02632	T	0.036324	0.24062	T	-0.28305	0.10346	T	-0.644358	0.09354	T	0.571350753307343	0.35286	D	0.882812	0.60417	D	0.09095966	0.21301	0.08753992	0.20354	0.09095966	0.21301	0.08753992	0.20354	-4.203	0.26795	T	.	.	0.158	0.37293	B	.;.;.;.;.	.;.;.;.;.	1.086071	0.14694	11.25	0.98800888467532288	0.46445	0.06423	0.12427	N	AEFDBI	0.210716	0.33657	N	-0.470422674084812	0.23054	1.235307	-0.693552490859705	0.17120	0.908959	0.445296783057563	0.20490	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	3.18	0.676	0.17125	0.445000	0.21392	-1.627000	0.05032	-0.298000	0.06216	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.5404:0.4596	7.454	0.26427	489	0.76795	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	2052.92	120	chr22	36265787	.	G	T	2052.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.138e+00;DP=2808;ExcessHet=0.6776;FS=120.485;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=3.33;ReadPosRankSum=0.964;SOR=9.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:144,0:144:99:.:.:0,120,1800	17	0	4	0
chr22	36265788	36265788	G	T	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.G898T:p.V300L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.757	P	0.429	B	0.021	N	1.000	N	2.065	M	3.34	T	-1.058	T	0.023	T	0.242	1.512	11.01	-0.39	0.081	-0.549	7.931	0.080	0.00139699107648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.252	0.36497	T	0.606	0.42139	P	0.287	0.41149	B	0.021435	0.26835	N	0.339041	1	0.08975	N	1.37	0.34214	L	3.34	0.06063	T	-2.1	0.47852	N	0.136	0.16028	-1.0577	0.12337	T	0.023	0.09604	T	10	0.42974234	0.57411	T	0.001397	0.02062	T	0.080	0.23350	0.79	0.91217	0.240491677333	0.23641	0.16720390685349407	0.16640	0.0932440907833	0.10540	0.259988605976	0.04889	T	0.018626	0.14980	T	-0.263696	0.12470	T	-0.616557	0.11457	T	0.400632858276367	0.28965	T	0.920908	0.71352	D	0.070749275	0.15611	0.06919031	0.14548	0.070749275	0.15611	0.06919031	0.14547	-3.674	0.18935	T	.	.	0.165	0.38354	B	.;.;.;.;.	.;.;.;.;.	-0.075038	0.03791	0.800	0.85417854666260362	0.15880	0.03431	0.08564	N	AEFDBI	0.283787	0.39681	N	-0.964199435183247	0.09377	0.4435163	-1.15603712399998	0.06660	0.3213267	0.433606993183405	0.20394	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	3.18	-0.39	0.11830	-0.264000	0.08683	-2.056000	0.04279	-2.667000	0.00218	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2601:0.0:0.7399:0.0	7.931	0.29068	489	0.76795	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	190.98	120	chr22	36265788	.	G	T	190.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.437e+00;DP=2765;ExcessHet=0.0000;FS=70.746;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.03;ReadPosRankSum=0.786;SOR=6.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:144,0:144:99:.:.:0,120,1800	20	0	1	0
chr22	36316560	36316560	G	C	exonic	MYH9	.	nonsynonymous SNV	MYH9:NM_002473:exon12:c.C1337G:p.S446C,	Deafness, autosomal dominant 17, Autosomal dominant;Epstein syndrome, Autosomal dominant;Fechtner syndrome, Autosomal dominant;Macrothrombocytopenia and progressive sensorineural deafness, Autosomal dominant;May-Hegglin anomaly, Autosomal dominant;Sebastian syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.839	P	0.211	B	0.000	D	1.000	D	2.625	M	-2.36	D	0.426	D	0.660	D	0.853	4.564	24.7	5.1	2.538	9.869	18.547	0.692	0.324217944934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	8.688e-05	1.362e-06	0	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.113	0.36901	T	0.839	0.46454	P	0.211	0.37346	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.15	0.60148	M	-2.36	0.88143	D	-4.71	0.79915	D	0.878	0.87590	0.426	0.89483	D	0.660	0.88197	D	10	0.9259001	0.91938	D	0.324218	0.91564	D	0.692	0.88820	0.645	0.78224	0.961098647398	0.96068	0.8395035233604805	0.83910	2.00279492732	0.93841	0.889070630074	0.95144	D	0.822647	0.95680	D	0.384396	0.88989	D	0.314382	0.88851	D	0.996383428573608	0.89236	D	0.944506	0.78979	D	0.92190284	0.93432	0.7688183	0.86348	0.92190284	0.93433	0.7688183	0.86349	-11.156	0.80506	D	0.8877937243935591	0.94347	0.351	0.56631	A	.	.	4.590653	0.72606	25.9	0.99319532239500308	0.59317	0.97062	0.72468	D	AEFBHCI	0.962230	0.98376	D	0.558250758971841	0.70586	5.523309	0.579599439697102	0.73481	5.977167	0.999999999999999	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.1	5.1	0.68917	10.003000	0.99689	7.593000	0.61311	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.0:0.0:1.0:0.0	18.547	0.91003	492	0.76569	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	1924.07	73	chr22	36316560	.	G	C	1924.07	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-3.731e+00;DP=1544;ExcessHet=1.7912;FS=261.121;InbreedingCoeff=-0.1672;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=3.69;ReadPosRankSum=1.93;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,33:98:99:0|1:36316559_G_T:593,0,2413:36316559	15	0	6	0
chr22	36504640	36504640	G	C	exonic	FOXRED2	.	nonsynonymous SNV	FOXRED2:NM_001102371:exon3:c.C654G:p.I218M	.	.	.	.	.	.	.	.	.	.	.	3250766	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.4	M	1.38	T	-0.699	T	0.209	T	0.695	3.450	17.68	4.7	1.419	4.025	9.144	0.341	0.0353998290457	.	.	1.65e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs373581384	7.525e-06	7.524e-06	6.806e-06	8.25e-06	0.0001	4.04e-06	2.95e-06	5.395e-05	4.042e-05	0	0	0	0	0	0	0	3.311e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999903	0.50806	D	3.405	0.91733	M	1.38	0.34050	T	-2.86	0.60188	D	0.842	0.86404	-0.6994	0.60467	T	0.209	0.56839	T	10	0.8152267	0.80768	D	0.035	0.56317	D	0.341	0.66297	0.685	0.82271	0.52468985305	0.52114	0.8568864522848941	0.85651	1.75915494578	0.91099	0.699204266071	0.67029	T	0.128952	0.45692	T	-0.0588678	0.43086	T	-0.119682	0.61830	T	0.981242537498474	0.73802	D	0.930207	0.74183	D	0.6713132	0.76503	0.4871106	0.70318	0.6713132	0.76504	0.4871106	0.70318	-9.625	0.71634	D	.	.	0.578	0.67973	P	.;.;.	.;.;.	3.935247	0.57545	23.9	0.99703288963442249	0.80798	0.97290	0.73825	D	AEFDBI	0.579961	0.58056	D	0.671328642898546	0.77755	6.736002	0.625317097632616	0.76784	6.555155	0.999999167783128	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.71	4.7	0.58776	4.111000	0.57577	4.080000	0.41731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2167:0.0:0.7833:0.0	9.144	0.36081	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2458.98	41	chr22	36504640	.	G	C	2458.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=1193;ExcessHet=0.0000;FS=4.196;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=3.56;SOR=0.983	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	20	0	1	0
chr22	36871659	36871659	G	A	exonic	NCF4	.	nonsynonymous SNV	NCF4:NM_000631:exon6:c.G478A:p.V160M	.	.	0	1502	20	0	0	20	0.00661376	.	.	352521	Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_3|not_provided|NCF4-related_disorder|not_specified	MONDO:MONDO:0013507,MedGen:C3151409,OMIM:613960,Orphanet:379|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.12	T	0.283	B	0.018	B	0.765	N	1.000	N	1.24	L	1.07	T	-0.991	T	0.125	T	0.051	0.898	8.648	-1.66	-0.065	0.180	7.957	0.017	.	0.0008	0.00139776	0.0049	0.0016	0	0.0119	0	0.0023	0.0046	0.0089	0.0012548	194	154602	rs150103256	0.0011	0.0011	0.0009	0.0013	0.0068	0.0011	0.0011	0.0063	0.0062	0.0002	0.0004	0.0034	0.0032	7.96e-05	0.0040	0.0006	0.0023	0.0068	0.0012	0.0012	0.0011	0.0014	0.0101	0.0011	0.0010	0.0079	0.0071	0.0004	0	0.0012	0.0046	0.0027	9.414e-05	0.0034	0.0009	0.0028	0.0101	0.209	0.25355	T	0.238	0.29153	T	0.122	0.26746	B	0.005	0.11217	B	0.765414	0.06565	N	1.132340	1	0.08975	N	-0.205	0.04094	N	1.07	0.58468	T	-0.5	0.15782	N	0.117	0.10626	-0.9911	0.32321	T	0.125	0.42883	T	10	0.003737539	0.00069	T	.	.	.	0.017	0.02790	.	.	0.534620942121	0.53112	0.2759971034556951	0.27512	0.175934184844	0.19809	0.389452517033	0.23592	T	0.023979	0.35768	T	-0.614211	0.00119	T	-0.650202	0.08940	T	0.00110288350147505	0.00011	T	0.482752	0.14626	T	0.016196107	0.00182	0.028450185	0.01083	0.018778292	0.00400	0.030498138	0.01512	-4.987	0.38170	T	0.167550838305845	0.20899	0.083	0.14523	B	.;.;.	.;.;.	0.891438	0.12651	9.174	0.83963086124445818	0.15019	0.03110	0.08046	N	AEFDBCI	0.057557	0.10732	N	-1.18311970823905	0.05255	0.239131	-1.26311506601942	0.04939	0.2342071	0.998763451817873	0.37623	0.706548	0.73137	0	0.724815	0.89359	0	0.615948	0.41167	0	0.542086	0.14980	0	.	.	4.17	-1.66	0.07824	0.069000	0.14419	-0.168000	0.11254	-1.765000	0.00671	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.6357:0.0:0.3643:0.0	7.957	0.29211	758	0.50837	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1768.11	64	chr22	36871659	.	G	A	1768.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.820e-01;DP=808;ExcessHet=0.1072;FS=2.197;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=1.59;SOR=0.568	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	19	0	2	0
chr22	36935416	36935416	C	T	exonic	CSF2RB	.	nonsynonymous SNV	CSF2RB:NM_000395:exon11:c.C1381T:p.R461C,	Surfactant metabolism dysfunction, pulmonary, 5, Autosomal recessive	.	1	1520	1	0	0	1	0.000328839	.	.	1396855	not_provided|Surfactant_metabolism_dysfunction,_pulmonary,_5	MedGen:C3661900|MONDO:MONDO:0013712,MedGen:C3280574,OMIM:614370,Orphanet:264675	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	1.0	D	0.792	P	0.133	N	0.997	D	2.075	M	-2.43	D	0.456	D	0.769	D	0.653	2.524	14.40	4.02	2.719	2.162	8.447	0.643	0.0918152840239	7.7e-05	0.000998403	0.0003	0	8.664e-05	0.0002	0	0.0001	0.0033	0.0011	0.0002458	38	154602	rs371045078	0.0001	0.0001	0.0001	0.0002	0.0010	0.0001	0.0001	0.0008	0.0008	0.0001	2.236e-05	0	2.519e-05	1.872e-05	0	7.374e-05	0.0002	0.0010	8.535e-05	8.53e-05	6.423e-05	0.0001	0.0006	4.953e-05	3.96e-05	0.0002	9e-05	0.0001	0	6.534e-05	0	0	0	0	2.94e-05	0.0005	0.0006	0.032	0.44694	D	0.007	0.69154	D	1.0	0.90584	D	0.792	0.57793	P	0.132949	0.18568	N	0.467902	0.994708	0.43428	D	1.83	0.48079	L	-2.43	0.91851	D	-2.06	0.47175	N	0.668	0.68342	0.456	0.89917	D	0.769	0.92146	D	10	0.12896541	0.24536	T	0.091815	0.75777	D	0.643	0.86435	.	.	0.949765678837	0.94923	0.6104394273750483	0.60975	0.264718964347	0.29026	0.296754688025	0.09919	T	0.364685	0.73023	T	-0.105609	0.35494	T	0.00670126	0.70770	D	0.028738436245557	0.01798	T	0.882612	0.60317	D	0.086426884	0.20088	0.06215375	0.12114	0.086426884	0.20087	0.06215375	0.12114	-7.081	0.57187	T	0.8082888856359398	0.88373	0.187	0.40618	B	.;.;.	.;.;.	4.444832	0.69046	25.3	0.99637572058507595	0.76449	0.36450	0.25536	N	AEFDBCI	0.145682	0.26894	N	0.387924843460932	0.60767	4.269334	0.409216150140624	0.62139	4.424345	0.998999302944423	0.38161	0.706548	0.73137	0	0.702456	0.74545	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	5.04	4.02	0.45968	1.116000	0.30836	2.858000	0.35184	0.599000	0.40250	0.040000	0.20979	0.996000	0.32793	0.977000	0.56843	0.0:0.8984:0.0:0.1016	8.447	0.32006	921	0.19240	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	920.98	36	chr22	36935416	.	C	T	920.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=850;ExcessHet=0.0000;FS=3.759;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.30;ReadPosRankSum=-3.860e-01;SOR=1.082	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1136	20	0	1	0
chr22	37002111	37002111	G	A	exonic	TEX33	.	nonsynonymous SNV	TEX33:NM_001163857:exon3:c.C215T:p.P72L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.358	B	0.051	B	0.094	N	1.000	N	1.355	L	.	.	-1.064	T	0.071	T	0.11	2.786	15.28	-11.3	-2.134	-1.978	11.405	0.071	0.00381259216298	.	.	3.658e-05	0	0	0	0	7.278e-05	0	0	3.84e-05	1	26028	rs755846995	3.324e-05	3.489e-05	1.539e-05	5.149e-05	0.0004	2.561e-05	2.295e-05	0.0003	0.0003	0	0	0	0	0	0.0002	9.198e-06	0	0.0004	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.125	0.27310	T	0.135	0.34124	T	0.358	0.33818	B	0.051	0.25434	B	0.093534	0.02478	N	1.981510	1	0.08975	N	1.65	0.42232	L	.	.	.	-3.36	0.66549	D	0.281	0.31814	-1.0640	0.10784	T	0.071	0.29001	T	9	0.06597665	0.08980	T	0.003813	0.08899	T	0.071	0.20720	0.096	0.01287	0.0138822411134	0.00435	0.07079285326276982	0.07016	0.191457487141	0.21472	0.2495842278	0.03724	T	0.038402	0.24828	T	-0.494255	0.00616	T	-0.663026	0.08063	T	0.0712509518025063	0.08825	T	0.433757	0.11839	T	0.032406062	0.03259	0.05007463	0.07785	0.032406062	0.03258	0.05007463	0.07785	-4.217	0.26997	T	.	.	0.074	0.05231	B	.;.	.;.	-1.090489	0.00652	0.018	0.87360531043218315	0.17171	0.01370	0.04678	N	AEFDBI	0.041671	0.06366	N	-1.55437755188258	0.01509	0.06590014	-1.74083273180912	0.00968	0.04337123	0.99997933156093	0.50053	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.67	-11.3	0.00084	-1.768000	0.01892	-3.048000	0.03108	-1.893000	0.00531	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1657:0.5584:0.2758	11.405	0.49133	958	0.09170	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2313.98	33	chr22	37002111	.	G	A	2313.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=954;ExcessHet=0.0000;FS=0.584;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.46;ReadPosRankSum=0.041;SOR=0.791	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,114,1710	20	0	1	0
chr22	37019870	37019870	C	G	exonic	MPST	.	nonsynonymous SNV	MPST:NM_001369905:exon1:c.C34G:p.R12G	.	.	405	1116	1	0	0	1	0.000447828	0.0013	0.056	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	.	.	.	.	.	.	0.804	N	0	N	1.42	T	-1.004	T	0.037	T	0.124	0.584	7.150	2.54	0.776	-0.605	8.808	0.009	.	.	0.00259585	0.0016	0	0	0	0	0	.	0.0111	0.0001552	24	154602	rs529020866	0.0001	0.0001	8.002e-05	0.0001	0.0052	9.047e-05	8.501e-05	0.0044	0.0041	4.418e-05	0	0	0	0	0.0003	1.105e-06	0.0003	0.0052	0.0002	0.0002	0.0001	0.0003	0.0061	0.0001	0.0001	0.0043	0.0038	0	0	0	0	0	0	0	0	0	0.0061	.	.	.	0.083	0.41405	T	.	.	.	.	.	.	.	.	.	.	0.804289	0.34553	D	.	.	.	.	.	.	.	.	.	0.089	0.06720	-1.0041	0.28725	T	0.037	0.15856	T	7	0.005059868	0.00109	T	.	.	.	.	.	.	.	0.274366138417	0.27033	0.38297585609907964	0.38212	.	.	0.603620350361	0.53416	T	.	.	.	-0.222966	0.17590	T	-0.558052	0.16560	T	0.162311270833015	0.18041	T	0.30107	0.05662	T	.	.	.	.	.	.	.	.	-3.498	0.16403	T	.	.	0.060	0.00919	B	.	.	0.830724	0.12021	8.578	0.53867944754461061	0.05024	0.18195	0.20159	N	ALL	0.070642	0.14031	N	-0.488956763321949	0.22442	1.198358	-0.656198844211045	0.18060	0.9631385	0.999999937457133	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.6	2.54	0.29674	-0.306000	0.08217	-1.032000	0.06544	0.573000	0.29008	0.000000	0.06391	0.000000	0.08366	0.104000	0.18471	0.2257:0.7743:0.0:0.0	8.808	0.34111	949	0.11373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	292.98	35	chr22	37019870	.	C	G	292.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=684;ExcessHet=0.0000;FS=4.380;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.37;ReadPosRankSum=-7.850e-01;SOR=1.381	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,104,963	20	0	1	0
chr22	37084728	37084728	G	A	exonic	TMPRSS6	.	nonsynonymous SNV	TMPRSS6:NM_001289000:exon9:c.C1085T:p.T362M	Iron-refractory iron deficiency anemia, Autosomal recessive	.	2	1519	1	0	0	1	0.000329056	0.0034	0.082	1018826	Microcytic_anemia	Human_Phenotype_Ontology:HP:0001935,MONDO:MONDO:0001245,MedGen:C5194182	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.915	P	0.132	B	0.686	N	0.589	D	0.805	L	2.2	T	-0.981	T	0.025	T	0.16	2.161	13.18	0.569	0.769	-0.088	5.887	0.088	0.00807032738359	0.0003	0.000199681	0.0003	0.0010	0.0019	0	0	0.0003	0	0.0001	7.12e-05	11	154602	rs144261072	3.482e-05	4.788e-05	3.369e-05	3.597e-05	0.0002	2.665e-05	2.401e-05	4.183e-05	2.541e-05	0.0001	8.225e-05	0	0	0	0.0002	3.414e-05	5.139e-05	1.252e-05	7.221e-05	7.217e-05	5.138e-05	9.4e-05	0.0001	3.968e-05	3.125e-05	4.727e-05	3.045e-05	0.0001	0	6.535e-05	0	0	0	0	7.351e-05	0	0	0.075	0.42487	T	0.119	0.43159	T	0.685	0.44570	P	0.036	0.28873	B	0.685954	0.10217	N	0.848102	0.589429	0.32443	D	1.35	0.33515	L	1.98	0.21865	T	-1.87	0.62008	N	0.126	0.21056	-0.9810	0.34771	T	0.025	0.10464	T	10	0.08075684	0.13143	T	0.00807	0.21393	T	0.088	0.25558	.	.	0.456275507713	0.45249	0.4659409542660365	0.46513	0.171131677844	0.19283	0.44907528162	0.31817	T	0.15633	0.49845	T	-0.229953	0.16656	T	-0.568088	0.15625	T	0.0306694317811229	0.02094	T	0.834017	0.50835	T	0.03768797	0.04878	0.09905658	0.23638	0.03768797	0.04878	0.09905658	0.23638	-6.043	0.46637	T	.	.	0.067	0.02993	B	.;.;.;.;.;.	.;.;.;.;.;.	2.956476	0.39359	20.9	0.98629597937038516	0.43893	0.71848	0.35192	D	AEFDBI	0.527613	0.54948	D	-0.189138258936906	0.33585	1.907111	-0.152963654389686	0.33294	1.903035	3.89259944329898E-4	0.06781	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.25	0.569	0.16525	-0.042000	0.12016	2.114000	0.30678	0.676000	0.76740	0.953000	0.33222	1.000000	0.68203	0.997000	0.79791	0.1758:0.0:0.6732:0.151	5.887	0.18133	951	0.11083	CUB domain|CUB domain;.;.;.;CUB domain|CUB domain;CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1219.98	42	chr22	37084728	.	G	A	1219.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.314;DP=943;ExcessHet=0.0000;FS=5.252;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=0.731;SOR=1.298	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,111,1228	20	0	1	0
chr22	37128173	37128173	C	A	exonic	IL2RB	.	nonsynonymous SNV	IL2RB:NM_000878:exon10:c.G1579T:p.A527S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.001	B	0.001	B	0.320	N	1.000	N	-1.5	N	3.39	T	-0.940	T	0.005	T	0.016	-0.093	3.543	-1.03	-0.466	0.139	6.311	0.004	0.00380737240262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.111e-07	1.3e-05	1.409e-06	0	2.955e-05	0	0	.	.	0	2.955e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.681	0.04417	T	0.525	0.10281	T	0.001	0.07471	B	0.001	0.04355	B	0.319562	0.04066	N	1.356300	1	0.08975	N	-0.75	0.01730	N	3.39	0.05710	T	0.8	0.01866	N	0.016	0.00203	-0.9400	0.42616	T	0.005	0.01833	T	10	0.043905318	0.03289	T	0.003807	0.08899	T	0.004	0.00165	0.229	0.15556	0.151262610727	0.14761	0.07957584002001977	0.07892	0.0789173938134	0.08879	0.317214131355	0.12999	T	0.283103	0.65586	T	-0.435792	0.01369	T	-0.863762	0.00804	T	0.0229514520615339	0.01018	T	0.316468	0.06291	T	0.03345967	0.03570	0.0406942	0.04456	0.03345967	0.03570	0.0406942	0.04456	-2.253	0.04305	T	.	.	0.074	0.05188	B	.	.	-0.557863	0.01690	0.122	0.26232493011048824	0.01247	0.00456	0.02204	N	AEFBCI	0.029826	0.02886	N	-1.65970182507821	0.00995	0.04312738	-1.58877233017562	0.01723	0.07835199	0.982542782740176	0.30416	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.85	-1.03	0.09586	0.615000	0.24023	1.575000	0.27440	-0.089000	0.16174	0.000000	0.06391	0.001000	0.17328	0.000000	0.00833	0.4195:0.4619:0.1186:0.0	6.311	0.20374	944	0.12746	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	596.98	36	chr22	37128173	.	C	A	596.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.672e+00;DP=739;ExcessHet=0.0000;FS=1.145;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=-5.830e-01;SOR=0.905	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,104,1095	20	0	1	0
chr22	37182540	37182540	G	A	exonic	C1QTNF6	.	nonsynonymous SNV	C1QTNF6:NM_031910:exon3:c.C485T:p.T162M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.991	D	0.871	P	0.099	N	0.998	N	2.44	M	1.84	T	-0.427	T	0.497	T	0.117	1.989	12.61	4.12	1.178	5.795	9.81	0.199	0.0391997635784	.	0.000199681	9.09e-05	0	0	0	0	6.014e-05	0	0.0004	0.0001035	16	154602	rs528699550	9.303e-05	9.303e-05	7.351e-05	0.0001	0.0005	8.025e-05	7.518e-05	0.0004	0.0003	0	2.236e-05	3.826e-05	2.519e-05	0	0	8.004e-05	1.656e-05	0.0005	6.562e-05	6.561e-05	7.705e-05	5.368e-05	0.0004	3.512e-05	2.613e-05	7.282e-05	3.339e-05	0	0	6.531e-05	0	0	0	0	0.0001	0	0.0004	0.078	0.33923	T	0.065	0.44702	T	.	.	.	.	.	.	0.099103	0.19949	N	0.535457	0.998656	0.22513	N	.	.	.	1.84	0.24656	T	-2.41	0.52938	N	0.099	0.08088	-0.4268	0.71170	T	0.497	0.80951	T	10	0.13401908	0.25505	T	0.039	0.58670	D	0.199	0.48268	.	.	0.518199804421	0.51461	0.25343470944618324	0.25257	0.663015556434	0.59004	0.288943350315	0.08768	T	.	.	.	-0.415231	0.01836	T	-0.533903	0.18899	T	0.406121701002121	0.29172	T	0.734827	0.35112	T	0.05271134	0.09870	0.099288106	0.23701	0.05271134	0.09870	0.099288106	0.23700	-7.672	0.58813	D	.	.	0.099	0.16886	B	.;.	.;.	3.849565	0.55755	23.6	0.99579000995987543	0.72861	0.93389	0.58086	D	AEFDBI	0.539416	0.55640	D	0.268378549014206	0.54553	3.620616	0.184165073608386	0.48979	3.10681	0.998272750205199	0.36679	0.656854	0.48797	0	0.633656	0.55848	0	0.67347	0.61138	0	0.683762	0.67416	0	.	.	5.14	4.12	0.47504	5.899000	0.69584	7.606000	0.61733	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.363000	0.25954	0.0816:0.1424:0.7759:0.0	9.81	0.39985	946	0.12043	C1q domain|C1q domain|C1q domain|C1q domain;C1q domain|C1q domain|C1q domain|C1q domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2932.98	33	chr22	37182540	.	G	A	2932.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.92;DP=1377;ExcessHet=0.0000;FS=1.061;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.90;ReadPosRankSum=0.718;SOR=0.637	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1207	20	0	1	0
chr22	37374772	37374772	C	A	exonic	ELFN2	.	nonsynonymous SNV	ELFN2:NM_052906:exon3:c.G763T:p.V255L,	.	.	435	1080	7	0	0	7	0.00323027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.067	B	0.027	B	0.044	N	1.000	N	0	N	0.77	T	-1.076	T	0.030	T	0.099	-0.652	1.133	1.4	0.596	1.546	0.622	0.054	0.00561163835175	.	0.000798722	0.0011	0.0001	8.743e-05	0.0051	0.0051	0.0007	0.0012	0.0004	0.0009185	142	154602	rs139809906	0.0006	0.0006	0.0005	0.0006	0.0061	0.0005	0.0005	0.0054	0.0052	2.988e-05	0	0.0006	0.0061	0.0051	0.0003	0.0002	0.0007	0.0005	0.0008	0.0008	0.0007	0.0010	0.0060	0.0007	0.0007	0.0043	0.0038	0	0	6.539e-05	0	0.0060	0.0035	0	0.0007	0.0019	0.0017	0.472	0.08433	T	0.717	0.05398	T	0.067	0.23653	B	0.027	0.21085	B	0.044058	0.23678	N	0.439592	1	0.08975	N	0	0.06538	N	0.77	0.49642	T	-0.65	0.18877	N	0.035	0.03956	-1.0759	0.08164	T	0.030	0.13111	T	10	0.003607124	0.00065	T	0.005612	0.14500	T	0.054	0.15330	0.3	0.26683	0.279809986126	0.27602	0.5344290183458548	0.53367	0.638508109678	0.57566	0.433324575424	0.29663	T	0.039334	0.25154	T	-0.581588	0.00188	T	-0.607372	0.12198	T	0.00679877228337692	0.00077	T	0.650635	0.26150	T	0.053708557	0.10204	0.03960286	0.04092	0.053708557	0.10204	0.03960286	0.04091	-3.051	0.10741	T	.	.	0.077	0.06387	B	.;.	.;.	1.500878	0.19296	14.19	0.88532334713136207	0.18051	0.26461	0.22999	N	AEFDGBI	0.229327	0.35286	N	-0.872308433357998	0.11505	0.5555483	-0.794302925521638	0.14635	0.765676	0.991201119218547	0.32408	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	4.96	1.4	0.21393	1.578000	0.36135	3.882000	0.40245	0.568000	0.28809	0.005000	0.17040	0.977000	0.30130	0.623000	0.31974	0.1811:0.3628:0.1773:0.2788	0.622	0.00729	900	0.24599	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1474.98	36	chr22	37374772	.	C	A	1474.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=1968;ExcessHet=0.0000;FS=1.446;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.09;ReadPosRankSum=-8.860e-01;SOR=0.520	GT:AD:DP:GQ:PL	0/0:120,0:120:99:0,120,1800	20	0	1	0
chr22	37474643	37474643	G	A	exonic	MFNG	.	nonsynonymous SNV	MFNG:NM_001166343:exon5:c.C640T:p.R214W	.	.	384	1135	3	0	0	3	0.00131984	.	.	2220335	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.993	D	0.000	D	1.000	D	2.985	M	-1.67	D	0.482	D	0.712	D	0.887	4.299	22.5	4.42	1.310	7.002	8.227	0.850	0.15104227352	0.0009	0.000199681	0.0006	0	8.661e-05	0	0	0.0010	0	0	0.0006209	96	154602	rs146856427	0.0009	0.0009	0.0010	0.0009	0.0011	0.0009	0.0009	0.0011	0.0011	0.0001	6.732e-05	7.686e-05	0	7.497e-05	0	0.0011	0.0008	3.485e-05	0.0005	0.0005	0.0006	0.0004	0.0010	0.0004	0.0004	0.0008	0.0008	0.0001	0	0	0	0	9.413e-05	0	0.0010	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.81110	D	0.000038	0.55875	D	0.071396	0.999998	0.58761	D	3.34	0.90961	M	-1.67	0.82806	D	-7.04	0.94729	D	0.737	0.73735	0.482	0.90295	D	0.712	0.90112	D	10	0.7434108	0.75118	D	0.151042	0.83265	D	0.850	0.95360	.	.	0.768827659172	0.76671	0.8967131102148493	0.89642	0.796604602703	0.66065	0.38546666503	0.23029	T	0.838677	0.96218	D	0.110274	0.65380	D	0.372395	0.91157	D	0.698012828826904	0.40625	D	0.99632	0.98684	D	0.7520747	0.80989	0.5718465	0.75205	0.7520747	0.80990	0.5718465	0.75205	-11.18	0.80636	D	.	.	0.132	0.29505	B	.;.;.	.;.;.	5.740184	0.93325	33	0.99918758518193029	0.98586	0.95879	0.66547	D	AEFDBI	0.832947	0.75123	D	0.768460056401532	0.84100	8.194715	0.690903262273453	0.81686	7.585457	0.997815291703875	0.36062	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	5.43	4.42	0.52775	7.618000	0.82239	9.845000	0.81950	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.0806:0.0:0.764:0.1554	8.227	0.30735	900	0.24599	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	580.98	34	chr22	37474643	.	G	A	580.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.166;DP=788;ExcessHet=0.0000;FS=3.419;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.30;ReadPosRankSum=-3.340e-01;SOR=1.190	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,100,1429	20	0	1	0
chr22	37510307	37510307	-	CTCCTT	exonic	CARD10	.	nonframeshift insertion	CARD10:NM_014550:exon4:c.813_814insAAGGAG:p.E273_P274insKE,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	16961.64	74	chr22	37510301	.	GCTCCTT	G,GCTCCTTCTCCTT	16961.64	.	AC=9,1;AF=0.214,0.024;AN=42;BaseQRankSum=-1.560e-01;DP=1329;ExcessHet=0.2067;FS=0.550;InbreedingCoeff=0.2125;MLEAC=9,1;MLEAF=0.214,0.024;MQ=60.00;MQRankSum=0.00;QD=27.36;ReadPosRankSum=0.379;SOR=0.644	GT:AD:DP:GQ:PL	0/0:40,0,0:40:99:0,99,1485,99,1485,1485	13	1	6	0
chr22	37510366	37510366	C	G	exonic	CARD10	.	nonsynonymous SNV	CARD10:NM_014550:exon4:c.G755C:p.R252P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.942	D	0.179	N	1.000	N	2.44	M	1.21	T	-0.540	T	0.203	T	0.57	2.247	13.47	3.69	0.967	2.078	10.692	0.223	0.0581605006615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	3.42e-06	2.724e-06	4.127e-06	0.0002	1e-06	7.3e-07	.	.	2.987e-05	0	0	0	0	0.0002	8.993e-07	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	0.999	0.77913	D	0.942	0.67772	D	0.179395	0.17145	N	0.546700	0.503535	0.31706	N	2.715	0.79425	M	1.21	0.37230	T	-4.01	0.74193	D	0.711	0.71410	-0.5396	0.67178	T	0.203	0.56017	T	10	0.83171	0.82333	D	0.058161	0.67222	D	0.223	0.52023	0.26	0.20315	0.66885242914	0.66606	0.6953146231062038	0.69472	0.482782264221	0.47234	0.626899778843	0.56706	T	0.67391	0.90351	D	-0.023453	0.48359	T	-0.271465	0.47672	T	0.982218325138092	0.74360	D	0.768523	0.39806	T	0.7179449	0.79047	0.7382817	0.84530	0.7179449	0.79049	0.7382817	0.84532	-9.297	0.69588	D	.	.	0.456	0.62499	A	.;.	.;.	4.186845	0.63073	24.5	0.9879739619953084	0.46397	0.94042	0.59938	D	AEFBCI	0.751174	0.69206	D	0.361987451248926	0.59374	4.116439	0.232304421890361	0.51649	3.345589	0.999998423997749	0.74766	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.635551	0.53088	0	.	.	4.71	3.69	0.41483	3.278000	0.51366	2.170000	0.31047	0.598000	0.34611	0.996000	0.39380	0.975000	0.29991	0.786000	0.37147	0.0:0.8395:0.0:0.1605	10.692	0.45076	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	729.98	40	chr22	37510366	.	C	G	729.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.350e-01;DP=852;ExcessHet=0.0000;FS=0.877;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.48;ReadPosRankSum=0.657;SOR=0.846	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr22	37621640	37621640	T	G	exonic	GGA1	.	nonsynonymous SNV	GGA1:NM_001001560:exon7:c.T553G:p.S185A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.248	B	0.206	B	0.032	N	1.000	D	1.795	L	0.95	T	-0.981	T	0.118	T	0.336	2.997	15.99	4.86	2.157	2.185	10.192	0.043	0.0083923629852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.14e-06	2.052e-06	2.816e-06	1.446e-06	3.782e-05	5.7e-07	1.6e-07	1.004e-05	4.78e-06	0	0	0	0	0	0	0	0	3.782e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.53900	T	0.059	0.49120	T	0.212	0.30008	B	0.146	0.33945	B	0.032112	0.25075	N	0.461885	0.999866	0.53665	D	1.79	0.46772	L	0.95	0.43279	T	-1.82	0.42763	N	0.35	0.39153	-0.9813	0.34701	T	0.118	0.41385	T	10	0.192759	0.35018	T	0.008392	0.22206	T	0.043	0.11576	0.169	0.07419	0.459148520276	0.45539	0.11466195704632573	0.11394	0.245738116212	0.27100	0.70672082901	0.68118	T	0.158086	0.50096	T	-0.123329	0.32581	T	-0.41493	0.31658	T	0.651047646999359	0.38506	D	0.661834	0.27137	T	0.23012257	0.45762	0.16130465	0.37526	0.23012257	0.45762	0.16130465	0.37525	-6.13	0.60291	T	.	.	0.154	0.35602	B	.;.;.;.;.	.;.;.;.;.	3.896678	0.56739	23.8	0.98980401388155193	0.49720	0.92818	0.56620	D	AEFDBHI	0.468553	0.51531	N	0.0413685485654708	0.43745	2.661562	0.159631037545225	0.47654	2.992439	0.999051462134588	0.38317	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.86	4.86	0.62624	1.412000	0.34322	5.936000	0.51400	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1484:0.0:0.0:0.8516	10.192	0.42206	929	0.16858	GAT domain;.;.;GAT domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	621.98	35	chr22	37621640	.	T	G	621.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.900e-02;DP=747;ExcessHet=0.0000;FS=2.672;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.14;ReadPosRankSum=0.310;SOR=0.895	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1105	20	0	1	0
chr22	37645482	37645482	T	C	exonic	SH3BP1	.	nonsynonymous SNV	SH3BP1:NM_001350055:exon10:c.T896C:p.M299T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.98	D	0.816	P	0.000	D	0.996	D	1.87	L	2.83	T	-1.108	T	0.056	T	0.612	2.997	15.99	5.6	2.139	7.991	15.790	0.315	0.0191327788136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.738e-06	3.42e-06	4.085e-06	1.376e-06	0.0003	6.4e-07	4.3e-07	6.098e-05	2.523e-05	0	0	0	0	0	0.0003	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.36310	T	0.001	0.83351	D	0.98	0.59353	D	0.816	0.58888	P	0.000013	0.62929	D	0.070422	0.996244	0.43096	D	1.15	0.29295	L	2.83	0.10771	T	-5.26	0.84105	D	0.806	0.80180	-1.1076	0.03284	T	0.056	0.23565	T	10	0.6105651	0.67421	D	0.019133	0.41408	T	0.315	0.63694	0.575	0.69957	0.44898880988	0.44520	0.7212685612543738	0.72069	0.580245724104	0.53879	0.802487134933	0.82342	T	0.065685	0.32753	T	-0.0682536	0.41606	T	-0.335818	0.40817	T	0.977017402648926	0.71645	D	0.80302	0.45619	T	0.3717726	0.58715	0.6012432	0.76832	0.3717726	0.58716	0.6012432	0.76833	-9.47	0.70672	D	.	.	0.660	0.71314	P	.;.;.	.;.;.	4.667575	0.74564	26.2	0.9671342775221563	0.30821	0.97829	0.77440	D	AEFBCI	0.923531	0.90014	D	0.442416055134698	0.63774	4.617722	0.511788776274383	0.68781	5.267852	0.999999999937623	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.6	5.6	0.84997	7.969000	0.87564	7.843000	0.70613	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.790	0.78122	934	0.15400	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	515.98	33	chr22	37645482	.	T	C	515.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.022e+00;DP=758;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.75;ReadPosRankSum=-6.190e-01;SOR=0.723	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1413	20	0	1	0
chr22	37723688	37723688	C	T	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_001039141:exon7:c.C1132T:p.P378S,	Deafness, autosomal recessive 28, Autosomal recessive	.	0	1514	7	1	0	9	0.00296345	.	.	1213503	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.045	B	0.024	B	.	.	1.000	N	1.39	L	2.03	T	-1.003	T	0.038	T	0.179	0.442	6.401	-0.167	-0.098	0.070	4.692	0.016	0.00180592756995	0.0008	0.000798722	0.0010	0.0002	0.0005	0	0.0005	0.0012	0.0011	0.0021	0.0008667	134	154602	rs183024099	0.0007	0.0007	0.0006	0.0007	0.0035	0.0006	0.0006	0.0023	0.0019	5.974e-05	0.0003	7.652e-05	0	0.0004	0.0035	0.0006	0.0009	0.0023	0.0006	0.0006	0.0005	0.0007	0.0023	0.0005	0.0004	0.0013	0.0010	0.0001	0	0.0003	0	0	0.0005	0	0.0009	0.0014	0.0023	0.061	0.37118	T	0.817	0.03863	T	0.045	0.21781	B	0.024	0.20255	B	.	.	.	.	1	0.08975	N	1.13	0.28900	L	2.03	0.20959	T	-0.59	0.17624	N	0.076	0.05037	-1.0034	0.28933	T	0.038	0.16548	T	9	0.0077746212	0.00177	T	0.001806	0.03089	T	0.016	0.02506	.	.	0.223847106136	0.22009	0.04789874257510578	0.04732	0.117284125893	0.13220	0.193930521607	0.00302	T	0.013988	0.11991	T	-0.573058	0.00212	T	-0.602102	0.12634	T	0.000805022622784938	0.00007	T	0.435556	0.11926	T	0.028344397	0.02157	0.039629165	0.04098	0.029824128	0.02540	0.047284674	0.06776	-4.377	0.29244	T	.	.	0.076	0.06069	B	.;.	.;.	0.062877	0.04731	1.363	0.6690620911893076	0.08196	0.06183	0.12167	N	AEFBCI	0.021011	0.00889	N	-1.01697570965288	0.08251	0.3862314	-1.13209244568928	0.07094	0.343778	0.0187579447496675	0.13093	0.631515	0.41029	0	0.588066	0.40923	0	0.697927	0.64325	0	0.586402	0.36253	0	.	.	2.35	-0.167	0.12693	0.058000	0.14178	-0.203000	0.10926	0.598000	0.34611	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.6263:0.2253:0.1484	4.692	0.12168	910	0.22284	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	6076.98	137	chr22	37723688	.	C	T	6076.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=2446;ExcessHet=0.0000;FS=3.272;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=-9.340e-01;SOR=0.478	GT:AD:DP:GQ:PL	0/1:205,233:438:99:6091,0,5263	20	0	1	0
chr22	37724705	37724705	C	G	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_001039141:exon7:c.C2149G:p.Q717E,	Deafness, autosomal recessive 28, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	270996	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_28	MedGen:C3661900|MONDO:MONDO:0012355,MedGen:C1853276,OMIM:609823,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.003	B	0.001	B	.	.	1.000	N	1.15	L	1.91	T	-0.956	T	0.028	T	0.124	1.180	9.801	-9.07	-1.559	-2.416	6.168	0.017	0.00439003065515	0.0035	0.000199681	0.0020	0.0003	0.0003	0	0.0003	0.0035	0	0.0001	0.0021604	334	154602	rs186620158	0.0036	0.0036	0.0038	0.0034	0.0042	0.0035	0.0035	0.0041	0.0041	0.0003	0.0004	0.0122	2.519e-05	0.0002	0.0003	0.0042	0.0026	0.0002	0.0023	0.0023	0.0022	0.0023	0.0037	0.0021	0.0020	0.0034	0.0032	0.0007	0	0.0011	0.0101	0	0.0003	0	0.0037	0.0019	0	0.067	0.35918	T	0.327	0.18732	T	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.795	0.47270	L	1.91	0.23283	T	-0.58	0.17417	N	0.1	0.08227	-0.9555	0.40006	T	0.028	0.12147	T	9	0.0028777122	0.00046	T	0.00439	0.10718	T	0.017	0.02790	.	.	0.151104730317	0.14643	0.012739363645455023	0.01232	0.12580541079	0.14181	0.176687687635	0.00067	T	0.019664	0.15622	T	-0.654772	0.00068	T	-0.712358	0.05175	T	0.0132102437320697	0.00235	T	0.176782	0.01721	T	0.06499278	0.13846	0.045805443	0.06246	0.05950838	0.12103	0.039464675	0.04046	-8.693	0.65700	D	.	.	0.075	0.05491	B	.;.	.;.	-0.131028	0.03462	0.641	0.36140271323700329	0.02308	0.02147	0.06318	N	AEFBHCI	0.043863	0.06987	N	-1.89835956685348	0.00346	0.01485989	-2.00690681053548	0.00296	0.0130784	0.999869968914602	0.44398	0.67177	0.52595	0	0.633656	0.55848	0	0.702456	0.68683	0	0.579976	0.35079	0	.	.	4.54	-9.07	0.00619	-3.660000	0.00449	-20.000000	0.00162	-0.956000	0.02005	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5811:0.1851:0.0:0.2338	6.168	0.19615	910	0.22284	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	7552.98	680	chr22	37724705	.	C	G	7552.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.425e+00;DP=6266;ExcessHet=0.0000;FS=2.422;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.91;MQRankSum=0.982;QD=11.11;ReadPosRankSum=0.680;SOR=0.861	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	20	0	1	0
chr22	37724757	37724757	C	T	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_001039141:exon7:c.C2201T:p.S734F,	Deafness, autosomal recessive 28, Autosomal recessive	.	13	1494	13	0	2	15	0.00433189	.	.	275023	not_specified|TRIOBP-related_disorder|Autosomal_recessive_nonsyndromic_hearing_loss_28|not_provided	MedGen:CN169374|.|MONDO:MONDO:0012355,MedGen:C1853276,OMIM:609823,Orphanet:90636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.266	B	0.049	B	.	.	1.000	D	2.015	M	1.86	T	-1.065	T	0.062	T	0.422	3.417	17.55	3.82	1.281	0.922	8.926	0.106	0.00750266136549	0.0006	0.000599042	0.0009	0.0001	0.0008	0	0	0.0013	0.0022	0.0004	0.0007374	114	154602	rs199794705	0.0007	0.0007	0.0006	0.0007	0.0154	0.0006	0.0006	0.0128	0.0119	0.0005	0.0006	0.0073	0	1.873e-05	0.0154	0.0004	0.0017	0.0005	0.0007	0.0007	0.0008	0.0007	0.0019	0.0006	0.0006	0.0014	0.0012	0.0001	0	0.0019	0.0075	0	9.498e-05	0.0243	0.0006	0.0019	0.0002	0.001	0.78490	D	0.103	0.38305	T	0.266	0.31648	B	0.049	0.25116	B	.	.	.	.	0.960368	0.26150	N	2.34	0.67151	M	1.86	0.24285	T	-1.79	0.42191	N	0.189	0.20660	-1.0651	0.10526	T	0.062	0.25887	T	9	0.00446856	0.00092	T	0.007503	0.19899	T	0.106	0.30130	.	.	0.322230723748	0.31824	0.060501318535236756	0.05990	0.479026368885	0.46955	0.287078648806	0.08499	T	0.047841	0.27841	T	-0.365772	0.03814	T	-0.388539	0.34724	T	0.0263833864879531	0.01458	T	0.464354	0.13557	T	0.11505772	0.27155	0.1436657	0.34135	0.11158889	0.26369	0.14747931	0.34898	-8.263	0.62848	D	.	.	0.238	0.47161	B	.;.	.;.	2.459228	0.31677	18.81	0.99595983285959933	0.73925	0.06528	0.12540	N	AEFBHCI	0.047250	0.07934	N	-0.616936468899709	0.18434	0.957096	-0.653946880142632	0.18116	0.9664155	0.895552273136308	0.25957	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.586402	0.36253	0	.	.	4.83	3.82	0.43153	0.947000	0.28680	-0.130000	0.11629	0.546000	0.25710	0.221000	0.24547	0.000000	0.08366	0.027000	0.12703	0.0:0.8993:0.0:0.1007	8.926	0.34804	910	0.22284	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	8726.98	583	chr22	37724757	.	C	T	8726.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.732;DP=6515;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.89;MQRankSum=0.738;QD=12.07;ReadPosRankSum=-9.910e-01;SOR=0.703	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	20	0	1	0
chr22	37726466	37726466	C	A	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_001039141:exon7:c.C3910A:p.R1304S,	Deafness, autosomal recessive 28, Autosomal recessive	.	12	1503	6	0	1	7	0.00199203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	1.0	D	0.967	D	.	.	1.000	D	0.805	L	0.28	T	-0.701	T	0.252	T	0.61	4.249	22.1	5.07	2.376	2.523	16.290	0.248	0.0630658994067	.	.	.	.	.	.	.	.	.	.	.	.	.	rs550274094	2.143e-06	5.472e-06	0	4.334e-06	0.0002	5.7e-07	1.6e-07	.	.	0	0	0	0	0	0.0002	0	1.719e-05	1.241e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0004	2.18e-06	8.2e-07	6.823e-05	2.855e-05	0	0	0	0	0.0004	0	0	0	0	0	0.0	0.91255	D	0.288	0.21144	T	1.0	0.90584	D	0.967	0.71530	D	.	.	.	.	0.667469	0.33110	D	1.04	0.26193	L	0.28	0.59037	T	-2.85	0.60029	D	0.652	0.66272	-0.7008	0.60400	T	0.252	0.62223	T	9	0.53869605	0.63595	D	0.063066	0.68850	D	0.248	0.55615	.	.	0.739818014902	0.73748	0.30916848207918823	0.30829	0.386630532738	0.39955	0.733280956745	0.71986	T	0.231116	0.59735	T	-0.125418	0.32240	T	-0.202596	0.54400	T	0.66301017999649	0.39028	D	0.738026	0.35555	T	0.506153	0.67455	0.45054185	0.68025	0.506153	0.67456	0.45054185	0.68025	-6.34	0.49039	T	.	.	0.891	0.82188	P	.;.	.;.	3.964497	0.58165	23.9	0.99811766037908878	0.89531	0.84548	0.43631	D	AEFDBI	0.436405	0.49664	N	0.411215872464132	0.62037	4.413393	0.426874021853534	0.63244	4.554486	0.999992995891553	0.74766	0.634777	0.41761	0	0.61073	0.52368	0	0.643519	0.47002	0	0.584449	0.35598	0	.	.	5.07	5.07	0.68106	2.322000	0.43474	3.929000	0.40522	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.643000	0.32503	0.0:1.0:0.0:0.0	16.290	0.82575	910	0.22284	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	287.98	19	chr22	37726466	.	C	A	287.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.530e-01;DP=565;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.00;ReadPosRankSum=-1.160e-01;SOR=0.976	GT:AD:DP:GQ:PL	0/0:21,0:21:60:0,60,900	20	0	1	0
chr22	37734652	37734652	C	T	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_001039141:exon9:c.C4316T:p.P1439L,	Deafness, autosomal recessive 28, Autosomal recessive	YES	1	1520	1	0	0	1	0.000328839	.	.	1941593	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.976	D	0.518	P	.	.	1.000	D	0.805	L	1.62	T	-1.082	T	0.074	T	0.301	2.609	14.68	5.4	2.523	0.948	16.094	0.130	0.0239517534765	.	.	2.18e-05	0	0	0	0	4.149e-05	0	0	1.29e-05	2	154602	rs768859839	1.177e-05	1.163e-05	1.238e-05	1.116e-05	0.0002	7.17e-06	5.86e-06	8.16e-06	6.47e-06	0	0	0	0	0	0.0002	1.359e-05	0	1.188e-05	6.574e-06	6.567e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.14	0.25664	T	0.219	0.25987	T	0.976	0.58310	D	0.518	0.48133	P	.	.	.	.	0.99998	0.18612	N	1.04	0.26193	L	1.62	0.28189	T	-3.59	0.69236	D	0.137	0.13484	-1.0821	0.06946	T	0.074	0.29865	T	9	0.17012563	0.31657	T	0.023952	0.46930	T	0.130	0.35528	0.204	0.11936	0.496299407791	0.49266	0.10015874422267233	0.09946	0.118913080066	0.13393	0.355625867844	0.18747	T	0.231462	0.59779	T	-0.204719	0.20129	T	-0.531841	0.19103	T	0.446141489747438	0.30655	T	0.535446	0.17943	T	0.071222596	0.15751	0.095082164	0.22533	0.071222596	0.15750	0.095082164	0.22533	-4.115	0.25511	T	.	.	0.097	0.15921	B	.;.	.;.	2.002547	0.25446	16.76	0.99794350850825686	0.88017	0.22072	0.21622	N	AEFDBI	0.105840	0.21136	N	-0.15189327428105	0.35155	2.015641	-0.237652953700816	0.30198	1.698284	0.999999999477792	0.74766	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.613276	0.41899	0	.	.	5.4	5.4	0.77957	0.390000	0.20494	-0.024000	0.12886	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:1.0:0.0:0.0	16.094	0.80917	911	0.21964	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	855.98	38	chr22	37734652	.	C	T	855.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.273;DP=836;ExcessHet=0.0000;FS=5.860;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.46;ReadPosRankSum=-8.870e-01;SOR=1.085	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1285	20	0	1	0
chr22	37734879	37734879	C	T	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_001039141:exon9:c.C4543T:p.P1515S,	Deafness, autosomal recessive 28, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.013	B	0.005	B	.	.	1.000	N	0	N	1.79	T	-1.000	T	0.025	T	0.103	1.982	12.58	-1.2	-0.118	-0.099	3.203	0.015	0.00268867332216	.	0.000199681	9.5e-05	0	0	0	0	0	0	0.0007	7.76e-05	12	154602	rs543930307	2.807e-05	2.805e-05	1.498e-05	4.128e-05	0.0004	2.088e-05	1.879e-05	0.0003	0.0003	0	0	0	0	0	0	5.396e-06	0	0.0004	2.626e-05	2.625e-05	0	5.372e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.084	0.32929	T	0.03	0.54159	D	0.013	0.16609	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	1.79	0.25509	T	-1.76	0.41618	N	0.072	0.04547	-1.0004	0.29803	T	0.025	0.10733	T	9	0.012620121	0.00271	T	0.002689	0.05521	T	0.015	0.02232	0.151	0.05441	0.159798565429	0.15598	0.050505282665217366	0.04993	0.119354016186	0.13438	0.25077688694	0.03850	T	0.039937	0.25359	T	-0.55523	0.00271	T	-0.685894	0.06629	T	0.0165254141508409	0.00415	T	0.344566	0.07542	T	0.027532468	0.01959	0.04448949	0.05774	0.027532468	0.01959	0.04448949	0.05774	-3.188	0.12334	T	.	.	0.079	0.07177	B	.;.	.;.	0.775831	0.11457	8.064	0.71187607348657644	0.09545	0.02536	0.07051	N	AEFDBI	0.042033	0.06468	N	-1.41933678058739	0.02469	0.1090759	-1.39816721035065	0.03272	0.1522717	0.999949623872696	0.47345	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	5.75	-1.2	0.09062	-0.103000	0.10909	-2.183000	0.04091	-0.827000	0.02907	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2963:0.3739:0.0:0.3298	3.203	0.06260	911	0.21964	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1713.98	38	chr22	37734879	.	C	T	1713.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.32;DP=891;ExcessHet=0.0000;FS=3.123;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=0.166;SOR=0.446	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1285	20	0	1	0
chr22	37768157	37768157	G	A	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_007032:exon9:c.G1417A:p.G473S	Deafness, autosomal recessive 28, Autosomal recessive	.	2	1510	10	0	0	10	0.00330033	.	.	231218	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.28	T	0.175	B	0.084	B	.	.	1.000	N	-1.1	N	2.24	T	-0.986	T	0.016	T	0.081	2.316	13.70	1.64	0.687	1.336	4.545	0.014	0.00889148132108	0.0006	0.000599042	0.0006	0.0008	0.0005	0	0	0.0006	0	0.0008	0.0004786	74	154602	rs191901426	0.0004	0.0004	0.0004	0.0005	0.0061	0.0004	0.0004	0.0045	0.0039	0.0004	0.0002	0.0003	2.521e-05	0	0.0061	0.0004	0.0008	0.0010	0.0004	0.0004	0.0004	0.0003	0.0010	0.0003	0.0003	0.0004	0.0003	0.0001	0	0.0005	0.0003	0	0	0.0068	0.0005	0	0.0010	0.315	0.13789	T	0.422	0.14034	T	0.024	0.19075	B	0.005	0.11217	B	.	.	.	.	0.99921	0.23853	N	-0.14	0.04484	N	2.24	0.20664	T	-0.84	0.31375	N	0.16	0.16725	-0.9859	0.33615	T	0.016	0.06473	T	9	0.008279085	0.00188	T	0.008891	0.23439	T	0.014	0.01968	.	.	0.253205268125	0.24938	0.06350221973927411	0.06289	0.258245614036	0.28380	0.423331797123	0.28295	T	0.011622	0.10346	T	-0.562184	0.00246	T	-0.67305	0.07414	T	0.0107156518032679	0.00151	T	0.764923	0.39623	T	0.04071498	0.05863	0.05715914	0.10342	0.045274626	0.07382	0.068579115	0.14340	-3.564	0.22438	T	.	.	0.082	0.08948	B	.;.;.	.;.;.	2.722786	0.35617	19.95	0.97346928616857309	0.33505	0.70160	0.34476	D	AEFGBCI	0.119296	0.23289	N	-0.617639284489508	0.18415	0.9558382	-0.410331147442293	0.24693	1.354	0.998590507875126	0.37268	0.67177	0.52595	0	0.643519	0.57511	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.01	1.64	0.22949	1.488000	0.35160	6.434000	0.55639	0.662000	0.56354	0.791000	0.29607	1.000000	0.68203	0.987000	0.62547	0.3357:0.0:0.5106:0.1537	4.545	0.11478	809	0.43032	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0.02381	663.98	36	chr22	37768157	.	G	A	663.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.960e-01;DP=861;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.55;ReadPosRankSum=1.17;SOR=0.602	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1316	20	0	1	0
chr22	37771716	37771716	G	A	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_007032:exon12:c.G1777A:p.E593K	Deafness, autosomal recessive 28, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.985	D	.	.	1.000	D	1.75	L	1.48	T	-0.856	T	0.176	T	0.932	4.315	22.6	5.24	2.724	9.097	19.033	0.321	0.214176524176	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1378851710	1.847e-05	1.847e-05	1.361e-05	2.338e-05	0.0001	1.265e-05	1.084e-05	7.998e-05	6.237e-05	0	0	0	2.519e-05	0	0	1.169e-05	1.656e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.985	0.76457	D	.	.	.	.	0.999995	0.58761	D	1.765	0.45800	L	1.48	0.31731	T	-3.27	0.65512	D	0.778	0.85554	-0.8558	0.51563	T	0.176	0.52021	T	9	0.53303057	0.63292	D	0.214177	0.87444	D	0.321	0.64318	0.273	0.22369	0.589963725375	0.58671	0.5381581731654153	0.53740	0.584650574276	0.54134	0.640069365501	0.58574	T	0.29082	0.66359	T	0.0841927	0.62528	D	0.119829	0.78225	D	0.725216484405598	0.41964	D	0.953005	0.82069	D	0.33421794	0.55814	0.41467565	0.65604	0.31384194	0.54117	0.41104963	0.65348	-9.789	0.77482	D	.	.	0.577	0.67944	P	.;.;.	.;.;.	4.716983	0.75839	26.4	0.99912970584610372	0.98167	0.99699	0.98773	D	AEFBI	0.922823	0.89836	D	0.629160156078185	0.75027	6.233845	0.573932959684836	0.73075	5.911796	0.99999999999953	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	9.283000	0.95023	9.964000	0.82816	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.054000	0.15518	0.0:0.0:1.0:0.0	19.033	0.92945	807	0.43470	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1772.98	37	chr22	37771716	.	G	A	1772.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.42;DP=842;ExcessHet=0.0000;FS=1.269;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=-8.620e-01;SOR=0.756	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr22	37922415	37922415	G	A	exonic	MICALL1	.	nonsynonymous SNV	MICALL1:NM_033386:exon6:c.G1013A:p.S338N,	.	.	449	1069	4	0	0	4	0.00186741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	B	0.001	B	0.305	N	1.000	D	1.04	L	0.53	T	-1.072	T	0.103	T	0.016	0.662	7.547	2.58	0.394	1.927	9.564	0.073	0.0659094568594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.903e-06	4.104e-06	2.863e-06	2.944e-06	0.0002	6.8e-07	4.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0.0002	1.862e-06	1.742e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.522	0.10391	T	0.001	0.07471	B	0.001	0.04355	B	0.305478	0.14524	N	0.598323	0.999726	0.20581	N	0	0.06538	N	0.53	0.55090	T	-0.48	0.15379	N	0.134	0.13055	-1.0718	0.09022	T	0.103	0.37994	T	9	0.09940836	0.18037	T	0.065909	0.69720	D	0.073	0.21317	0.145	0.04843	0.564208378351	0.56084	0.14016215337996407	0.13939	0.215576983653	0.24092	0.566994547844	0.48253	T	0.014988	0.12654	T	-0.285122	0.10131	T	-0.647335	0.09141	T	0.0769251870783705	0.09589	T	0.59564	0.22108	T	0.046981554	0.07955	0.06926147	0.14571	0.046981554	0.07954	0.06926147	0.14571	-5.846	0.44973	T	.	.	0.097	0.15832	B	.	.	2.009961	0.25536	16.80	0.83287354968506033	0.14643	0.74457	0.36425	D	AEFDBHCI	0.092818	0.18788	N	-0.604529867770122	0.18807	0.9794038	-0.54190011872429	0.21021	1.135235	0.956637902068587	0.28258	0.732398	0.92422	0	0.743671	0.97443	0	0.630245	0.45026	0	0.714379	0.83352	0	.	.	4.75	2.58	0.30011	1.996000	0.40396	3.803000	0.39877	0.640000	0.52149	0.995000	0.38783	1.000000	0.68203	0.011000	0.09372	0.168:0.0:0.832:0.0	9.564	0.38550	862	0.33134	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	641.98	31	chr22	37922415	.	G	A	641.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.390e-01;DP=406;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=0.473;SOR=0.693	GT:AD:DP:GQ:PL	0/0:14,0:14:39:0,39,585	20	0	1	0
chr22	37927690	37927690	C	G	exonic	MICALL1	.	nonsynonymous SNV	MICALL1:NM_033386:exon9:c.C1745G:p.A582G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.58	P	0.142	B	0.091	N	1.000	N	1.87	L	1.87	T	-0.918	T	0.185	T	0.117	1.520	11.03	3.57	0.912	1.774	14.587	0.052	0.0170867135793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.115	0.36630	T	0.58	0.38813	P	0.142	0.33681	B	0.090796	0.20358	N	0.408346	1	0.08975	N	1.79	0.46772	L	0.55	0.54728	T	-1.22	0.30964	N	0.087	0.06454	-0.9180	0.45824	T	0.185	0.53496	T	10	0.115570694	0.21777	T	0.017087	0.38644	T	0.062	0.17934	0.077	0.00572	0.699821692763	0.69722	0.22705963929309095	0.22620	0.223941503005	0.24908	0.399451434612	0.24992	T	0.011907	0.10552	T	-0.197594	0.21152	T	-0.521607	0.20132	T	0.192171531156108	0.19971	T	0.691931	0.30130	T	0.10084167	0.23816	0.11198782	0.27018	0.10084167	0.23815	0.11198782	0.27018	-3.9	0.22303	T	.	.	0.082	0.08802	B	.	.	0.869318	0.12421	8.956	0.98558937557221382	0.42948	0.63035	0.31964	D	AEFDBI	0.085694	0.17372	N	-0.244693437871359	0.31315	1.754709	-0.339928358736389	0.26821	1.484085	0.986509899987365	0.31075	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.61	3.57	0.40014	1.314000	0.33202	0.194000	0.15776	0.596000	0.33519	0.054000	0.21560	0.000000	0.08366	0.293000	0.24333	0.0:0.8528:0.1472:0.0	14.587	0.67926	862	0.33134	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	655.98	35	chr22	37927690	.	C	G	655.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.409e+00;DP=793;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.58;ReadPosRankSum=-5.310e-01;SOR=0.739	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr22	38082797	38082797	A	G	exonic	SLC16A8	.	nonsynonymous SNV	SLC16A8:NM_013356:exon3:c.T77C:p.F26S,	.	.	414	1088	20	0	0	20	0.00910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	3.225	M	0.9	T	-0.210	T	0.322	T	0.936	5.214	33	4.45	1.788	7.304	14.018	0.614	.	0.0008	0.00519169	0.0059	0	0.0024	0.0003	0.0009	0.0028	0.0028	0.0189	0.0025355	392	154602	rs76230437	0.0021	0.0021	0.0017	0.0025	0.0140	0.0020	0.0020	0.0133	0.0131	0.0003	0.0010	0.0024	2.555e-05	0.0001	0.0047	0.0014	0.0024	0.0140	0.0016	0.0016	0.0014	0.0017	0.0153	0.0014	0.0014	0.0125	0.0115	0.0001	0.0121	0.0007	0.0026	0	0.0003	0	0.0018	0.0024	0.0153	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.995	0.83170	D	0.000005	0.62929	D	0.000000	0.999998	0.58761	D	3.575	0.93507	H	0.9	0.45248	T	-6.62	0.95815	D	0.673	0.68082	-0.2105	0.77401	T	0.322	0.69056	T	10	0.011802018	0.00256	T	.	.	.	0.614	0.84932	.	.	0.650396906566	0.64749	0.9199488251834103	0.91970	0.940998533728	0.72202	0.707973182201	0.68300	T	0.451162	0.79199	T	-0.0446398	0.45257	T	0.174778	0.81693	D	0.155474108007556	0.17531	T	0.933907	0.75876	D	0.9502605	0.96292	0.95024955	0.98414	0.9502605	0.96292	0.95024955	0.98415	-10.613	0.77494	D	.	.	0.950	0.86878	P	.;.	.;.	4.806610	0.78151	26.8	0.99847016519748233	0.92663	0.94348	0.60879	D	AEFDGBHCI	0.887559	0.81990	D	0.800811689162397	0.86157	8.796093	0.705053027307735	0.82764	7.848117	0.999999999989457	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.45	4.45	0.53365	7.292000	0.78084	6.765000	0.56546	0.745000	0.86679	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	14.018	0.64051	504	0.75712	Major facilitator superfamily domain|Major facilitator superfamily domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	537.98	62	chr22	38082797	.	A	G	537.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.132;DP=743;ExcessHet=0.0000;FS=3.600;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.68;ReadPosRankSum=0.882;SOR=0.646	GT:AD:DP:GQ:PL	0/0:38,0:38:81:0,81,1215	20	0	1	0
chr22	38085304	38085304	C	A	exonic	BAIAP2L2	.	nonsynonymous SNV	BAIAP2L2:NM_025045:exon14:c.G1586T:p.R529L,	.	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.894	P	0.031	U	1.000	D	2.125	M	.	.	-0.575	T	0.233	T	0.589	4.145	21.4	3.25	0.902	0.607	8.665	0.165	.	.	0.00199681	0.0008	0	0	0.0108	0	0	0	0.0002	0.000705	109	154602	rs185758992	0.0002	0.0002	0.0002	0.0002	0.0066	0.0002	0.0002	0.0059	0.0056	0	2.237e-05	0	0.0066	0	0.0002	3.598e-06	0.0003	0.0001	0.0003	0.0003	0.0003	0.0004	0.0095	0.0003	0.0002	0.0074	0.0066	0	0	0	0	0.0095	0	0	0	0.0005	0.0004	0.002	0.72154	D	0.006	0.70582	D	0.999	0.77913	D	0.894	0.63417	P	0.030591	0.25287	U	0.424455	0.93043	0.36957	D	2.865	0.83145	M	.	.	.	-3.96	0.73579	D	0.448	0.48596	-0.5746	0.65831	T	0.233	0.59941	T	9	0.009226143	0.00208	T	.	.	.	0.165	0.42395	.	.	0.701695226393	0.69910	0.19023304253407083	0.18941	0.859992518265	0.68915	0.532100081444	0.43331	T	0.084139	0.37213	T	-0.256909	0.13265	T	-0.131421	0.60852	T	0.143486243645006	0.16571	T	0.868713	0.57175	D	0.3238965	0.54967	0.36021626	0.61467	0.3238965	0.54967	0.36021626	0.61466	-12.131	0.85483	D	.	.	0.416	0.66553	A	.;.	.;.	4.098995	0.61106	24.3	0.99802498327403544	0.88728	0.87804	0.47470	D	AEFDBI	0.338397	0.43588	N	0.3589373140819	0.59214	4.098887	0.2816655700218	0.54469	3.611828	0.999752237219839	0.42595	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.3	3.25	0.36363	0.954000	0.28772	1.039000	0.23542	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.0:0.8169:0.0:0.1831	8.665	0.33278	497	0.76227	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	872.98	39	chr22	38085304	.	C	A	872.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=800;ExcessHet=0.0000;FS=2.743;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.00;ReadPosRankSum=-4.580e-01;SOR=1.058	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1022	20	0	1	0
chr22	38221563	38221563	C	T	exonic	TMEM184B	.	nonsynonymous SNV	TMEM184B:NM_001195071:exon9:c.G1130A:p.R377H	.	.	409	1109	4	0	0	4	0.00180018	.	.	2194882	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.986	D	0.346	B	0.004	N	1.000	D	1.1	L	0.9	T	-1.036	T	0.087	T	0.216	2.868	15.55	4.05	1.138	2.089	13.463	0.073	0.0113301963412	0.0031	0.00119808	0.0015	0.0011	0.0012	0	0	0.0023	0	0.0004	0.0016623	257	154602	rs150283064	0.0027	0.0027	0.0027	0.0027	0.0032	0.0026	0.0026	0.0032	0.0031	0.0005	0.0011	0.0006	2.519e-05	0.0004	0.0024	0.0032	0.0027	0.0008	0.0019	0.0019	0.0020	0.0019	0.0036	0.0017	0.0017	0.0032	0.0031	0.0007	0	0.0006	0	0	0.0002	0.0034	0.0036	0.0028	0.0002	0.084	0.32929	T	0.441	0.13290	T	0.986	0.61523	D	0.346	0.42645	B	0.003524	0.34820	N	0.237036	0.999932	0.51612	D	1.04	0.26193	L	0.9	0.45248	T	0.06	0.06253	N	0.076	0.05037	-1.0359	0.18575	T	0.087	0.33690	T	10	0.006246507	0.00141	T	0.01133	0.28845	T	0.073	0.21317	.	.	0.117191471859	0.11215	0.5835769452281616	0.58286	0.671977429293	0.59500	0.453005433083	0.32354	T	0.016315	0.13508	T	-0.518953	0.00446	T	-0.517263	0.20572	T	0.0204998444280178	0.00750	T	0.714229	0.32652	T	0.050892256	0.09264	0.046544123	0.06509	0.050892256	0.09264	0.046544123	0.06509	-3.65	0.18582	T	.	.	0.082	0.08948	B	.;.	.;.	3.165806	0.42909	21.6	0.99827029942759327	0.90939	0.88959	0.49146	D	AEFDGBI	0.515624	0.54250	D	0.0904768894995676	0.46019	2.848896	0.0982664578753695	0.44462	2.72749	0.999999622955764	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.07	4.05	0.46415	2.137000	0.41754	4.867000	0.45528	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.366000	0.26021	0.0:0.9239:0.0:0.0761	13.463	0.60692	336	0.86165	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2141.98	34	chr22	38221563	.	C	T	2141.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.548;DP=855;ExcessHet=0.0000;FS=1.222;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=-7.100e-02;SOR=0.640	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr22	38586096	38586096	C	A	exonic	FAM227A	.	nonsynonymous SNV	FAM227A:NM_001384270:exon17:c.G1549T:p.A517S,	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	.	.	.	.	.	.	1.000	N	.	.	.	.	-1.002	T	0.051	T	0.071	0.219	5.183	-3.55	-0.751	-0.140	4.500	0.001	0.00212525471675	.	0.000199681	0.0004	0	0	0	0	0	0	0.0010	5.82e-05	9	154602	rs576539997	6.215e-05	5.951e-05	4.37e-05	8.111e-05	0.0010	5.099e-05	4.763e-05	0.0008	0.0007	0	0	0	0	0	0.0004	2.78e-06	6.881e-05	0.0010	3.284e-05	3.281e-05	2.57e-05	4.03e-05	0.0010	1.26e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.18	0.21968	T	0.182	0.29249	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.01	0.07155	N	0.063	0.03502	-1.0022	0.29284	T	0.051	0.21767	T	5	0.020782381	0.00485	T	0.002125	0.03935	T	0.001	0.00016	0.232	0.16005	0.0297737177859	0.01360	.	.	.	.	.	.	.	0.007098	0.06517	T	-0.614733	0.00119	T	-0.706239	0.05491	T	0.0191120399060652	0.00619	T	0.418458	0.11053	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.15698	B	.;.	.;.	-0.326778	0.02501	0.294	0.35545244703409512	0.02237	0.00221	0.01247	N	AEFBHI	0.014487	0.00233	N	-1.17778797447224	0.05337	0.2430433	-1.39263466878161	0.03329	0.1551051	5.6317132839383E-4	0.07335	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	2.83	-3.55	0.04343	-0.314000	0.08132	0.301000	0.16978	-1.660000	0.00814	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5251:0.185:0.29:0.0	4.500	0.11271	727	0.54702	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	260.98	33	chr22	38586096	.	C	A	260.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.487;DP=731;ExcessHet=0.0000;FS=2.808;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.55;ReadPosRankSum=-1.400e-01;SOR=0.796	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1220	20	0	1	0
chr22	38682432	38682432	A	G	exonic	TOMM22	.	nonsynonymous SNV	TOMM22:NM_020243:exon2:c.A227G:p.K76R,	.	.	0	224	2	0	0	2	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.999	D	0.966	D	0.000	D	1.000	D	2.815	M	.	.	-0.142	T	0.457	T	0.673	5.171	32	5.25	1.976	6.551	15.138	0.402	0.0530367961043	7.7e-05	.	0.0002	0.0002	0	0	0	0.0004	0	0.0002	0.0002005	31	154602	rs144614555	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	5.974e-05	0	0.0019	0	7.49e-05	0	0.0002	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	9.656e-05	0	0	0.0020	0	9.423e-05	0	0.0003	0	0	0.269	0.16091	T	0.248	0.23845	T	0.999	0.77913	D	0.966	0.71341	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.09	0.87444	M	.	.	.	-1.59	0.38345	N	0.2	0.22098	-0.1417	0.79123	T	0.457	0.78872	T	9	0.05865103	0.06929	T	0.053037	0.65308	D	0.402	0.71558	.	.	0.409069985131	0.40521	0.4947102426998851	0.49392	0.718610679393	0.62102	0.748560249805	0.74234	T	0.139588	0.47369	T	-0.0543263	0.43789	T	-0.0154885	0.69325	D	0.293455451726913	0.24733	T	0.730127	0.34567	T	0.35078353	0.57128	0.22174244	0.46995	0.35078353	0.57129	0.22174244	0.46994	-4.22	0.27040	T	.	.	0.130	0.27998	B	.	.	4.892187	0.80333	27.3	0.99828092720263095	0.91026	0.94228	0.60504	D	AEBCI	0.890882	0.82633	D	0.714501635042143	0.80583	7.326432	0.6716073211418	0.80229	7.252622	0.999999999991067	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.25	5.25	0.73169	5.420000	0.66180	10.982000	0.84611	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	15.138	0.72264	814	0.42100	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	879.98	33	chr22	38682432	.	A	G	879.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.098e+00;DP=800;ExcessHet=0.0000;FS=2.933;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.00;ReadPosRankSum=-6.890e-01;SOR=1.035	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1079	20	0	1	0
chr22	38779599	38779599	C	T	exonic	DNAL4	.	nonsynonymous SNV	DNAL4:NM_005740:exon4:c.G168A:p.M56I,	.	.	413	1107	2	0	0	2	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.12	B	0.133	B	0.000	D	1.000	D	1.915	M	.	.	-0.630	T	0.298	T	0.841	2.519	14.38	5.25	2.435	7.790	18.837	0.520	0.020705448332	.	.	0.0002	0	0	0	0	0	0	0.0011	7.12e-05	11	154602	rs756201896	3.249e-05	3.557e-05	1.098e-05	5.431e-05	0.0005	2.504e-05	2.244e-05	0.0004	0.0004	0	0	0	0	0	0	9.06e-07	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.31532	T	0.16	0.31427	T	0.12	0.26678	B	0.133	0.33073	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.295	0.65404	M	.	.	.	-2.51	0.54546	D	0.668	0.67650	-0.6299	0.63575	T	0.298	0.66914	T	9	0.24470827	0.41706	T	0.020705	0.43358	T	0.520	0.79583	0.501	0.59304	0.277730125212	0.27379	0.6109386136033088	0.61025	0.20676314425	0.23106	0.851361572742	0.89820	D	0.174004	0.52308	T	0.0755347	0.61515	D	0.209116	0.83617	D	0.250956100936623	0.22916	T	0.957004	0.83719	D	0.410421	0.61447	0.38633773	0.63528	0.410421	0.61448	0.38633773	0.63528	-2.284	0.04468	T	.	.	0.670	0.71738	P	.	.	4.319969	0.66108	24.9	0.97527301640840158	0.34437	0.99093	0.91122	D	AEFBI	0.918391	0.88738	D	0.10698720052182	0.46787	2.913901	0.202952452630476	0.50010	3.19767	0.999999999999715	0.74766	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.25	5.25	0.73169	7.878000	0.85659	5.752000	0.49633	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.837	0.92135	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1067.98	33	chr22	38779599	.	C	T	1067.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=793;ExcessHet=0.0000;FS=1.681;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=-1.767e+00;SOR=0.884	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1089	20	0	1	0
chr22	39045473	39045473	C	A	exonic	APOBEC3F	.	nonsynonymous SNV	APOBEC3F:NM_145298:exon4:c.C497A:p.P166Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.03	B	0.018	B	.	.	1.000	N	0.765	N	-0.02	T	-1.044	T	0.076	T	0.215	0.187	5.006	-1.43	-0.226	-0.825	1.045	0.084	.	0.0011	0.00179712	0.0039	0.0002	0	0	0.0292	0.0040	0.0044	0	0.0032276	499	154602	rs138934952	0.0022	0.0022	0.0023	0.0021	0.0016	0.0021	0.0021	0.0015	0.0015	0.0003	4.472e-05	0.0001	0	0.0246	0.0010	0.0016	0.0017	0	0.0027	0.0028	0.0015	0.0040	0.0017	0.0025	0.0024	0.0015	0.0014	0.0002	0	0.0001	0.0003	0	0.0269	0.0034	0.0017	0.0009	0	0.184	0.21634	T	0.625	0.07316	T	0.03	0.20002	B	0.018	0.18489	B	.	.	.	.	1	0.08975	N	1.825	0.47900	L	-0.02	0.62918	T	-0.78	0.21644	N	0.226	0.25377	-1.0442	0.16059	T	0.076	0.30584	T	9	0.018758416	0.00411	T	.	.	.	0.084	0.24469	.	.	0.270447802918	0.26645	0.12869000032582267	0.12793	0.337694586208	0.35753	0.340191364288	0.16467	T	0.005804	0.05248	T	-0.486867	0.00676	T	-0.47643	0.24828	T	0.00465764849978056	0.00050	T	0.383762	0.09387	T	0.11159489	0.26371	0.062818594	0.12350	0.11159489	0.26371	0.062818594	0.12350	-6.138	0.47420	T	.	.	0.140	0.30582	B	.	.	-0.257522	0.02810	0.387	0.52852199777703457	0.04827	0.01609	0.05211	N	AEFGBI	0.041288	0.06258	N	-1.22239804252766	0.04676	0.211567	-1.32019040554019	0.04169	0.1961046	0.0531690586717994	0.14930	0.722319	0.85440	0	0.698795	0.70079	0	0.26897	0.05253	2	0.635551	0.53088	0	.	.	2.27	-1.43	0.08418	-0.351000	0.07760	-8.031000	0.01041	-0.268000	0.06776	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2303:0.3935:0.226:0.1502	1.045	0.01470	344	0.85734	APOBEC-like, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2876.98	33	chr22	39045473	.	C	A	2876.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.29;DP=1057;ExcessHet=0.0000;FS=2.064;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.67;MQRankSum=-3.294e+00;QD=10.58;ReadPosRankSum=-5.640e-01;SOR=0.823	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr22	39102563	39102563	G	A	exonic	APOBEC3H	.	nonsynonymous SNV	APOBEC3H:NM_001166003:exon5:c.G595A:p.E199K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	0	N	-0.16	T	-0.972	T	0.110	T	0.14	1.134	9.622	.	0.159	0.199	.	0.017	0.00542564958919	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1431539199	1.236e-05	1.431e-05	7.671e-06	1.637e-05	0.0001	5.14e-06	3.3e-06	5.221e-05	3.667e-05	0	0	0	0	0	0	0	0	0.0001	6.575e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.69	0.16971	N	-0.16	0.65378	T	0.58	0.02598	N	0.186	0.20262	-0.9722	0.36734	T	0.110	0.39723	T	5	0.08421749	0.14091	T	0.005426	0.13923	T	0.017	0.02790	0.39	0.41279	0.043077524339	0.03247	0.37176273620319306	0.37090	0.339098575111	0.35870	0.490690737963	0.37535	T	0.004447	0.03857	T	-0.289297	0.09707	T	-0.457029	0.26924	T	0.111729703539011	0.13601	T	0.505449	0.15971	T	0.14846885	0.33894	0.23244797	0.48406	0.14846885	0.33894	0.23244797	0.48405	-4.148	0.25995	T	.	.	0.122	0.25462	B	.;.	.;.	0.839744	0.12115	8.666	0.97691588887594683	0.35376	0.00360	0.01845	N	AEFDI	0.030877	0.03191	N	-0.86548336924955	0.11671	0.5644994	-1.04762807585438	0.08756	0.4320877	0.0150358391746337	0.12667	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	.	.	.	0.199000	0.17037	0.667000	0.20560	0.217000	0.18040	0.104000	0.22875	0.196000	0.23534	0.106000	0.18562	.	.	.	314	0.87270	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	562.98	34	chr22	39102563	.	G	A	562.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.098e+00;DP=767;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.08;ReadPosRankSum=-2.010e-01;SOR=0.659	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1082	20	0	1	0
chr22	39225814	39225814	G	A	exonic	PDGFB	.	nonsynonymous SNV	PDGFB:NM_002608:exon6:c.C635T:p.T212M	Basal ganglia calcification, idiopathic, 5, Autosomal dominant;Dermatofibrosarcoma protuberans;Meningioma, SIS-related, Autosomal dominant	.	0	1490	30	2	0	34	0.0112807	.	.	512969	Dermatofibrosarcoma_protuberans|not_provided|not_specified	MONDO:MONDO:0011934,MedGen:C3693482,OMIM:607907,Orphanet:31112|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.032	B	0.016	B	0.542	N	0.993	N	0.345	N	0.93	T	-1.039	T	0.046	T	0.135	2.252	13.49	-1.84	0.107	0.554	1.182	0.026	.	0.0037	0.00319489	0.0056	0.0012	0.0017	0	0.0023	0.0060	0.0055	0.0142	0.0054204	838	154602	rs114786489	0.0063	0.0064	0.0061	0.0066	0.0149	0.0062	0.0062	0.0142	0.0139	0.0012	0.0028	0.0033	7.559e-05	0.0025	0.0042	0.0065	0.0054	0.0149	0.0045	0.0045	0.0044	0.0046	0.0139	0.0042	0.0041	0.0112	0.0102	0.0011	0.0263	0.0041	0.0023	0	0.0013	0	0.0066	0.0052	0.0139	0.1	0.30943	T	0.114	0.36765	T	0.007	0.14184	B	0.004	0.10090	B	0.541526	0.11531	N	0.798927	0.99325	0.23746	N	1.265	0.31966	L	0.93	0.44065	T	-0.65	0.18877	N	0.257	0.35088	-1.0386	0.17740	T	0.046	0.19839	T	10	0.00529024	0.00116	T	.	.	.	0.026	0.05648	.	.	0.258436476835	0.25460	0.2997629068538521	0.29889	0.436062898333	0.43710	0.505595207214	0.39608	T	0.449245	0.79081	T	-0.583624	0.00183	T	-0.599435	0.12859	T	0.00691551287233934	0.00078	T	0.686231	0.29475	T	0.015566687	0.00146	0.028410947	0.01075	0.021147769	0.00703	0.037284758	0.03349	-6.104	0.47141	T	.	.	0.082	0.12132	B	.;.	.;.	2.574122	0.33359	19.32	0.97996070975431393	0.37438	0.24263	0.22339	N	AEFBCI	0.069974	0.13873	N	-0.799490138805889	0.13323	0.6555402	-0.704909117050281	0.16839	0.8926379	0.801800370877876	0.24199	0.67177	0.52595	0	0.588066	0.40923	0	0.65145	0.50148	0	0.711	0.71501	0	.	.	5.3	-1.84	0.07387	0.778000	0.26393	0.744000	0.21184	-0.106000	0.15538	0.720000	0.28821	0.125000	0.22942	0.856000	0.40543	0.3325:0.1979:0.3403:0.1293	1.182	0.01734	699	0.57969	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2434.11	33	chr22	39225814	.	G	A	2434.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.14;DP=919;ExcessHet=0.1072;FS=1.014;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.70;ReadPosRankSum=1.22;SOR=0.785	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	19	0	2	0
chr22	39418741	39418741	G	A	exonic	TAB1	.	nonsynonymous SNV	TAB1:NM_006116:exon6:c.G560A:p.R187H	.	.	423	1082	17	0	0	17	0.00779459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.017	N	1.000	D	2.965	M	2.32	T	-0.723	T	0.162	T	0.919	4.705	26.1	4.89	2.539	8.145	18.250	0.469	0.0441738625943	0.0002	0.00119808	0.0006	0	0.0002	0	0.0003	0.0004	0.0022	0.0022	0.0005304	82	154602	rs140879164	0.0005	0.0005	0.0004	0.0006	0.0036	0.0005	0.0004	0.0032	0.0031	2.989e-05	0.0002	0.0011	2.52e-05	0	0.0031	0.0003	0.0007	0.0036	0.0004	0.0004	0.0002	0.0005	0.0044	0.0003	0.0003	0.0029	0.0025	7.219e-05	0	0.0002	0.0003	0	0.0003	0	0.0003	0.0005	0.0044	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.998	0.97372	D	0.016949	0.27845	N	0.289711	1	0.81001	D	3.58	0.93551	H	2.32	0.16640	T	-4.37	0.77061	D	0.957	0.96644	-0.7230	0.59314	T	0.162	0.49781	T	10	0.1159704	0.21864	T	0.044174	0.61358	D	0.469	0.76355	.	.	0.833701932369	0.83212	0.8499869987663632	0.84960	1.43642037179	0.85895	0.796991467476	0.81506	T	0.404604	0.76102	T	-0.0527564	0.44029	T	0.149337	0.80141	D	0.194534549470721	0.20108	T	0.986201	0.95481	D	0.71293783	0.78769	0.5910687	0.76271	0.71293783	0.78771	0.5910687	0.76272	-12.349	0.86509	D	.	.	0.855	0.80046	P	.;.	.;.	5.858669	0.93846	33	0.99943139847416107	0.99848	0.98343	0.81823	D	AEFBI	0.880297	0.80684	D	0.873474607585982	0.90403	10.38731	0.790624154678768	0.89132	9.851857	0.999999999991149	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.89	4.89	0.63387	8.333000	0.89937	11.802000	0.96681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	18.250	0.89936	912	0.21483	PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1577.98	40	chr22	39418741	.	G	A	1577.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.402;DP=822;ExcessHet=0.0000;FS=7.183;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=1.92;SOR=0.853	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1380	20	0	1	0
chr22	39487401	39487401	C	G	exonic	MGAT3	.	nonsynonymous SNV	MGAT3:NM_001098270:exon1:c.C54G:p.C18W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	0.975	L	.	.	-0.609	T	0.254	T	0.868	2.449	14.15	4.14	1.173	1.610	9.950	0.467	0.00928000961584	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.053e-05	0.0007	6.065e-05	4.032e-05	0.0002	4.107e-05	3.778e-05	7.907e-05	5.367e-05	0.0002	0	0	2.526e-05	1.888e-05	0	5.279e-05	8.352e-05	2.351e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.04	0.26193	L	.	.	.	-2.82	0.98918	D	0.891	0.89020	-0.6091	0.64441	T	0.254	0.62417	T	9	0.9666564	0.96163	D	0.00928	0.24366	T	0.467	0.76222	0.891	0.97367	0.427940940899	0.42412	0.9367500656120937	0.93655	2.60696827796	0.98215	0.840098500252	0.88110	D	0.721539	0.92134	D	0.344	0.86089	D	0.256068	0.85906	D	0.962799787521362	0.66471	D	0.887111	0.61484	D	0.7679175	0.81923	0.73513645	0.84346	0.7679175	0.81924	0.73513645	0.84347	-6.473	0.50078	T	.	.	0.914	0.93695	P	.;.;.	.;.;.	3.752512	0.53796	23.4	0.99322247773775674	0.59431	0.91717	0.54114	D	AEFDBCI	0.909483	0.86618	D	0.365176442442986	0.59547	4.134862	0.35561719820587	0.58846	4.057947	0.999785587597136	0.43007	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.15	4.14	0.47821	1.635000	0.36747	1.717000	0.28234	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.845:0.0:0.155	9.950	0.40802	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	67.98	85	chr22	39487401	.	C	G	67.98	.	AC=1;AF=0.100;AN=10;BaseQRankSum=-1.693e+00;DP=2332;ExcessHet=0.0000;FS=215.651;InbreedingCoeff=-0.2727;MLEAC=2;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=0.54;ReadPosRankSum=0.348;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:110,0:110:0:.:.:0,0,1905	4	0	1	16
chr22	39487402	39487402	C	G	exonic	MGAT3	.	nonsynonymous SNV	MGAT3:NM_001098270:exon1:c.C55G:p.L19V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.038	B	0.018	B	0.000	D	1.000	D	0	N	.	.	-1.021	T	0.097	T	0.309	1.282	10.19	5.15	2.397	4.639	14.273	0.036	0.000747537211794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.642e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.423	0.13925	T	1.0	0.92824	T	0.038	0.21002	B	0.018	0.18489	B	0.000129	0.49741	D	0.078023	0.989613	0.40988	D	0.11	0.08516	N	.	.	.	0.31	0.07008	N	0.192	0.21056	-1.0211	0.23357	T	0.097	0.36289	T	9	0.1536076	0.28990	T	7.48E-4	0.00529	T	0.036	0.09122	0.325	0.30711	0.17258766438	0.16869	0.6280749446135879	0.62740	1.11172862533	0.78072	0.70557820797	0.67952	T	0.122074	0.44549	T	-0.0782729	0.39996	T	-0.35021	0.39181	T	0.553379416465759	0.34604	D	0.829517	0.49484	T	0.14126308	0.32557	0.08410163	0.19323	0.14126308	0.32557	0.08410163	0.19322	-4.032	0.24281	T	.	.	0.075	0.50880	B	.;.;.	.;.;.	2.390995	0.30708	18.52	0.94777118921343506	0.25503	0.74216	0.36303	D	AEFDBCI	0.580722	0.58102	D	-0.20713993524983	0.32841	1.856578	0.0291967868770973	0.41076	2.461844	0.999999884736667	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.15	5.15	0.70287	4.720000	0.61636	7.504000	0.59526	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8512:0.1488:0.0	14.273	0.65712	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02778	53.7	90	chr22	39487402	.	C	G	53.7	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-4.304e+00;DP=1949;ExcessHet=0.0000;FS=215.651;InbreedingCoeff=-0.0704;MLEAC=1;MLEAF=0.028;MQ=60.00;MQRankSum=0.00;QD=0.43;ReadPosRankSum=0.357;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485	17	0	1	3
chr22	39513545	39513545	T	C	exonic	MIEF1	.	nonsynonymous SNV	MIEF1:NM_001304564:exon6:c.T614C:p.I205T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.684	P	0.419	B	0.000	D	1.000	D	1.04	L	3.12	T	-1.046	T	0.027	T	0.692	3.042	16.15	6.07	2.326	6.282	16.629	0.197	0.0111785295086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.722e-06	1.375e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.63226	D	0.017	0.60972	D	0.684	0.41517	P	0.419	0.45047	B	0.000000	0.84330	D	0.078099	0.999927	0.51308	D	1.59	0.40313	L	3.12	0.08106	T	-1.97	0.45587	N	0.668	0.67650	-1.0462	0.15476	T	0.027	0.11663	T	10	0.28728196	0.46311	T	0.011179	0.28538	T	0.197	0.47942	0.479	0.55823	0.434606191737	0.43079	0.6967121627676782	0.69612	0.646926983572	0.58097	0.768396914005	0.77185	T	0.023916	0.18170	T	-0.00951075	0.50334	T	-0.251438	0.49675	T	0.673523485660553	0.39495	D	0.941806	0.78262	D	0.6869494	0.77346	0.41197166	0.65413	0.6869494	0.77347	0.41197166	0.65413	-6.327	0.48936	T	.	.	0.511	0.65078	A	.;.;.	.;.;.	3.964871	0.58176	23.9	0.99494184934074625	0.67630	0.98101	0.79606	D	AEFDBI	0.785088	0.71558	D	0.268882310333112	0.54578	3.623107	0.385690595718469	0.60681	4.258515	0.999999999999953	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.639134	0.45391	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	6.263000	0.72483	7.926000	0.74773	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:0.0:1.0	16.629	0.84866	900	0.24599	Mab-21 domain|Mab-21 domain;Mab-21 domain|Mab-21 domain;Mab-21 domain|Mab-21 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1590.98	35	chr22	39513545	.	T	C	1590.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.286e+00;DP=852;ExcessHet=0.0000;FS=3.097;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=-1.004e+00;SOR=0.465	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1425	20	0	1	0
chr22	39513595	39513595	G	A	exonic	MIEF1	.	nonsynonymous SNV	MIEF1:NM_001304564:exon6:c.G664A:p.D222N	.	.	416	1098	8	0	0	8	0.00362976	.	.	2822212	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.684	P	0.5	P	0.000	D	1.000	D	1.975	M	3.1	T	-1.226	T	0.043	T	0.152	4.454	23.8	6.07	2.884	7.874	16.051	0.176	0.00398576918541	0.0022	0.000798722	0.0027	0.0006	0.0010	0	0.0003	0.0030	0.0033	0.0061	0.0027425	424	154602	rs138446352	0.0029	0.0029	0.0028	0.0031	0.0068	0.0029	0.0028	0.0059	0.0057	0.0004	0.0013	0.0047	0	0.0003	0.0068	0.0030	0.0023	0.0063	0.0022	0.0022	0.0022	0.0022	0.0039	0.0020	0.0019	0.0030	0.0029	0.0006	0.0055	0.0019	0.0037	0	0.0002	0.0068	0.0034	0.0033	0.0039	0.004	0.68238	D	0.007	0.69154	D	0.684	0.41517	P	0.5	0.47649	P	0.000001	0.84330	D	0.126579	0.998673	0.45259	D	2.375	0.68372	M	3.1	0.08283	T	-2.44	0.53420	N	0.649	0.66016	-1.2257	0.00038	T	0.043	0.18285	T	10	0.010844678	0.00240	T	0.003986	0.09431	T	0.176	0.44373	.	.	0.610735333248	0.60760	0.6501875904085627	0.64954	0.519585128678	0.49787	0.832304000854	0.86915	D	0.052605	0.29209	T	-0.491669	0.00636	T	-0.476552	0.24814	T	0.0348281721890081	0.02780	T	0.958404	0.84340	D	0.6891166	0.77464	0.6608541	0.80128	0.6891166	0.77465	0.6608541	0.80129	-4.804	0.34638	T	.	.	0.203	0.42735	B	.;.;.	.;.;.	4.335055	0.66457	25.0	0.99904953837129651	0.97576	0.98909	0.88484	D	AEFDBI	0.942117	0.94628	D	0.575323907249772	0.71638	5.681228	0.670959388944183	0.80180	7.241852	0.999999999993547	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.639134	0.45391	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	8.000000	0.88004	11.853000	0.98135	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.1333:0.8667:0.0	16.051	0.80567	900	0.24599	Mab-21 domain|Mab-21 domain;Mab-21 domain|Mab-21 domain;Mab-21 domain|Mab-21 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2435.98	35	chr22	39513595	.	G	A	2435.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.060e-01;DP=867;ExcessHet=0.0000;FS=3.822;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.52;ReadPosRankSum=-1.100e-01;SOR=0.450	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1425	20	0	1	0
chr22	39521955	39521955	A	T	exonic	ATF4	.	nonsynonymous SNV	ATF4:NM_001675:exon2:c.A409T:p.T137S	.	.	431	1067	24	0	0	24	0.0111214	.	.	717458	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.016	B	0.02	B	0.770	N	1.000	N	1.67	L	1.91	T	-0.977	T	0.042	T	0.04	0.273	5.478	-1.46	-0.766	0.254	6.421	0.058	0.00667410026828	0.0052	0.00179712	0.0047	0.0018	0.0061	0	0.0017	0.0060	0.0066	0.0036	0.0044631	690	154602	rs150385569	0.0061	0.0061	0.0061	0.0061	0.0078	0.0060	0.0060	0.0070	0.0069	0.0014	0.0055	0.0009	2.582e-05	0.0015	0.0078	0.0071	0.0050	0.0039	0.0043	0.0042	0.0046	0.0039	0.0070	0.0040	0.0039	0.0064	0.0062	0.0015	0.0011	0.0041	0.0017	0	0.0010	0.0342	0.0070	0.0053	0.0020	0.134	0.26300	T	0.381	0.15939	T	0.016	0.17332	B	0.02	0.19048	B	0.769846	0.06591	N	1.103000	1	0.08975	N	1.23	0.30720	L	1.91	0.23283	T	-0.3	0.11913	N	0.064	0.03841	-0.9767	0.35749	T	0.042	0.18202	T	10	0.0032248497	0.00055	T	0.006674	0.17614	T	0.058	0.16647	.	.	0.186928172975	0.18263	0.06111295903092459	0.06051	0.00428377551654	0.00378	0.221920505166	0.01424	T	0.312835	0.68463	T	-0.672476	0.00053	T	-0.734317	0.04134	T	0.00465677136106539	0.00050	T	0.366763	0.08556	T	0.047641173	0.08178	0.046785593	0.06597	0.047641173	0.08177	0.046785593	0.06597	-3.407	0.15150	T	.	.	0.089	0.11989	B	.;.;.	.;.;.	0.102907	0.05042	1.587	0.77322230035010009	0.11827	0.40688	0.26492	N	AEFDBHCI	0.576500	0.57847	D	-0.995582958516228	0.08698	0.4088086	-1.03882691337148	0.08941	0.4421766	0.999999029203516	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	4.74	-1.46	0.08338	0.170000	0.16476	0.795000	0.21604	-0.074000	0.16291	0.002000	0.15269	0.009000	0.19889	0.810000	0.38174	0.4681:0.1372:0.3947:0.0	6.421	0.20945	895	0.25842	.;.;.	MGAT3	Vagina	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2754.98	37	chr22	39521955	.	A	T	2754.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.291;DP=1005;ExcessHet=0.0000;FS=7.774;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.85;ReadPosRankSum=-3.900e-02;SOR=1.101	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,103,1362	20	0	1	0
chr22	39649510	39649510	C	T	exonic	CACNA1I	.	nonsynonymous SNV	CACNA1I:NM_001003406:exon9:c.C1472T:p.P491L	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.003	B	0.003	B	0.000	N	0.998	N	1.245	L	-4.06	D	-0.177	T	0.734	D	0.08	-0.424	2.024	-3.25	-0.260	0.042	0.776	0.279	0.111831745221	.	.	5.67e-05	0	0.0010	0	0	0	0	0	1.29e-05	2	154602	rs752791976	2.339e-05	2.668e-05	2.383e-05	2.293e-05	0.0002	1.668e-05	1.467e-05	1.41e-05	1.178e-05	3.116e-05	5.263e-05	0	2.691e-05	0	0.0002	2.117e-05	3.42e-05	3.767e-05	1.314e-05	1.313e-05	2.569e-05	0	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.192	0.25457	T	0.029	0.54541	D	0.001	0.11197	B	0.002	0.08700	B	0.000000	0.00162	N	7739.210000	0.999348	0.22124	N	1.7	0.43825	L	-4.09	0.96627	D	-3.79	0.71639	D	0.232	0.29774	-0.1775	0.78243	T	0.734	0.90891	D	10	0.046116114	0.03763	T	0.111832	0.78976	D	0.279	0.59619	0.294	0.25720	0.578896146939	0.57559	0.3891273771938394	0.38827	0.768518510254	0.64651	0.444932878017	0.31252	T	0.173352	0.52218	T	-0.0491681	0.44574	T	-0.308403	0.43829	T	0.0568058615233279	0.06656	T	0.576842	0.23746	T	0.057860877	0.11569	0.072847314	0.15764	0.057860877	0.11569	0.072847314	0.15763	-3.904	0.22393	T	.	.	0.077	0.10014	B	.;.;.;.	.;.;.;.	0.576644	0.09453	6.230	0.63234244373968251	0.07170	0.04508	0.10132	N	AEFBI	0.061069	0.11649	N	-1.52131192468692	0.01709	0.07483695	-1.59375893003134	0.01693	0.07691426	0.300305477940668	0.19182	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.7	-3.25	0.04765	0.306000	0.19030	-0.026000	0.12859	-1.712000	0.00741	0.033000	0.20612	0.001000	0.17328	0.002000	0.04165	0.409:0.1933:0.2149:0.1828	0.776	0.00968	878	0.29785	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	748.98	33	chr22	39649510	.	C	T	748.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=784;ExcessHet=0.0000;FS=1.865;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.25;ReadPosRankSum=2.23;SOR=1.022	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,968	20	0	1	0
chr22	39649563	39649563	G	A	exonic	CACNA1I	.	nonsynonymous SNV	CACNA1I:NM_001003406:exon9:c.G1525A:p.A509T	.	.	361	1152	9	0	0	9	0.00389105	.	.	3195539	CACNA1I-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.26	T	0.903	P	0.128	B	0.000	U	0.991	N	1.1	L	-4.0	D	0.121	D	0.759	D	0.241	1.053	9.300	3.7	1.997	1.281	10.162	0.329	0.059665303737	.	0.000399361	0.0018	0	0.0043	0	0	0	0	0.0042	0.0002393	37	154602	rs538823777	0.0002	0.0002	0.0001	0.0004	0.0033	0.0002	0.0002	0.0030	0.0028	9.486e-05	5.583e-05	0	0.0001	2.073e-05	0.0007	3.243e-05	0.0006	0.0033	0.0001	0.0001	8.993e-05	0.0002	0.0031	8.163e-05	6.72e-05	0.0019	0.0015	2.405e-05	0	0	0	0	0	0	4.411e-05	0	0.0031	0.562	0.21550	T	0.64	0.10714	T	0.642	0.49795	P	0.09	0.32786	B	0.000004	0.00162	U	19.585800	0.996129	0.24095	N	1.87	0.49600	L	-4.03	0.96659	D	-0.46	0.23808	N	0.149	0.15187	0.121	0.84550	D	0.759	0.91788	D	10	0.00569275	0.00126	T	0.059665	0.67740	D	0.329	0.65126	.	.	0.766198879023	0.76406	0.1778561325156901	0.17704	0.731568185231	0.62751	0.551546216011	0.46076	T	0.013692	0.11797	T	-0.264652	0.12359	T	-0.156295	0.58682	T	0.0309884791212522	0.02145	T	0.737626	0.38228	T	0.075899445	0.17130	0.113508366	0.27393	0.075899445	0.17130	0.113508366	0.27392	-4.143	0.27584	T	.	.	0.076	0.09917	B	.;.;.;.	.;.;.;.	2.601853	0.33775	19.44	0.98842788490551303	0.47152	0.16511	0.19423	N	AEFBI	0.083319	0.16879	N	-0.333111080679934	0.27898	1.534314	-0.327769279881588	0.27205	1.507997	0.547936070423186	0.21309	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.7	3.7	0.41607	1.003000	0.29410	4.211000	0.42532	0.676000	0.76740	0.001000	0.13787	1.000000	0.68203	0.106000	0.18562	0.0963:0.0:0.9037:0.0	10.162	0.42036	878	0.29785	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	725.98	33	chr22	39649563	.	G	A	725.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.360e-01;DP=764;ExcessHet=0.0000;FS=2.580;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.13;ReadPosRankSum=-1.760e-01;SOR=0.924	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,968	20	0	1	0
chr22	39663823	39663823	G	C	exonic	CACNA1I	.	nonsynonymous SNV	CACNA1I:NM_001003406:exon18:c.G3474C:p.Q1158H	.	.	256	1257	9	0	0	9	0.00356718	.	.	2819537	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.999	D	0.997	D	0.000	D	1.000	D	1.15	L	-4.32	D	0.866	D	0.886	D	0.402	3.356	17.30	5.4	2.521	2.488	19.174	0.495	0.18197023949	0.0037	0.000798722	0.0035	0.0009	0.0009	0	0.0017	0.0057	0.0022	0.0005	0.0034346	531	154602	rs58500586	0.0040	0.0040	0.0040	0.0040	0.0040	0.0039	0.0039	0.0039	0.0038	0.0008	0.0013	0.0334	0	0.0014	0.0033	0.0040	0.0049	0.0005	0.0032	0.0032	0.0031	0.0032	0.0039	0.0029	0.0028	0.0035	0.0034	0.0008	0	0.0036	0.0325	0	0.0008	0	0.0039	0.0033	0.0002	0.062	0.39097	T	0.099	0.39340	T	0.995	0.77913	D	0.834	0.86255	P	0.000001	0.62929	D	0.057229	0.999703	0.48408	D	1.53	0.38800	L	-4.32	0.97218	D	-1.85	0.43524	N	0.424	0.49965	0.866	0.95222	D	0.886	0.96202	D	10	0.0099307	0.00223	T	0.18197	0.85590	D	0.495	0.78036	0.322	0.30226	0.575872055055	0.57256	0.7720933594612088	0.77159	0.919939869185	0.71406	0.56018435955	0.47294	T	0.313575	0.68531	T	-0.164328	0.26097	T	-0.0078684	0.69824	D	0.0288592784236747	0.01817	T	0.870713	0.57574	D	0.18445477	0.39761	0.17871086	0.40557	0.18445477	0.39760	0.17871086	0.40557	-10.51	0.80738	D	.	.	0.226	0.46539	B	.;.;.;.	.;.;.;.	3.645095	0.51706	23.1	0.99636912810891531	0.76387	0.81778	0.41114	D	AEFDGBHCI	0.639350	0.61743	D	0.407672679434896	0.61845	4.39106	0.404821502751809	0.61864	4.392677	0.999999999998786	0.74766	0.676563	0.55306	0	0.563428	0.19063	0	0.673471	0.61138	0	0.63947	0.58350	0	.	.	5.4	5.4	0.77957	2.568000	0.45628	1.950000	0.29880	-0.724000	0.03774	1.000000	0.71638	1.000000	0.68203	0.153000	0.20410	0.0:0.0:1.0:0.0	19.174	0.93579	843	0.36859	.;.;.;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	4342.98	35	chr22	39663823	.	G	C	4342.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.540e-01;DP=1020;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.67;ReadPosRankSum=-6.750e-01;SOR=0.672	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,117,1519	20	0	1	0
chr22	39685851	39685851	G	T	exonic	CACNA1I	.	nonsynonymous SNV	CACNA1I:NM_001003406:exon36:c.G6013T:p.D2005Y	.	.	413	1096	13	0	0	13	0.00589569	.	.	3198384	CACNA1I-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.995	D	0.865	P	0.018	U	1.000	N	0.805	L	1.38	T	-0.819	T	0.157	T	0.526	3.648	18.55	3.3	1.535	4.902	14.906	0.213	.	.	.	0.0048	0	0.0139	0	.	0.0025	0.0102	0.0056	0.000401	62	154602	rs771105041	0.0009	0.0008	0.0007	0.0010	0.0061	0.0008	0.0008	0.0042	0.0036	3.725e-05	0.0003	0	0	3.046e-05	0.0061	0.0008	0.0013	0.0034	0.0006	0.0006	0.0007	0.0006	0.0017	0.0005	0.0005	0.0008	0.0008	7.226e-05	0	0.0003	0	0	0.0002	0.0103	0.0010	0.0014	0.0017	0.03	0.45393	D	0.037	0.51737	D	0.995	0.67487	D	0.865	0.61524	P	0.018447	0.01488	U	18.804800	0.870191	0.28219	N	1.735	0.44892	L	1.38	0.34050	T	-2.65	0.56787	D	0.309	0.34874	-0.8186	0.54022	T	0.157	0.49010	T	10	0.005474776	0.00121	T	.	.	.	0.213	0.50496	.	.	0.419361210318	0.41555	0.5343302111735805	0.53358	0.928649804324	0.71733	0.953547596931	0.99820	D	0.168662	0.51575	T	-0.405571	0.02127	T	-0.354948	0.38638	T	0.0781123692269203	0.09743	T	0.828817	0.49341	T	0.27131626	0.50202	0.27742136	0.53695	0.27131626	0.50202	0.27742136	0.53694	-5.079	0.37685	T	.	.	0.374	0.60496	A	.;.	.;.	3.860389	0.55978	23.7	0.99567203068229992	0.72136	0.85397	0.44526	D	AEFDBI	0.569297	0.57413	D	0.319743582898387	0.57162	3.882627	0.289774718371548	0.54940	3.657834	0.999929085419733	0.46280	0.608966	0.35542	0	0.657636	0.61667	0	0.769059	0.98459	0	0.63947	0.58350	0	.	.	3.3	3.3	0.36912	2.769000	0.47338	10.752000	0.83680	0.500000	0.22704	0.999000	0.42656	1.000000	0.68203	0.794000	0.37478	0.0:0.0:1.0:0.0	14.906	0.70368	823	0.40596	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	374.98	32	chr22	39685851	.	G	T	374.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.870;DP=763;ExcessHet=0.0000;FS=1.320;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.71;ReadPosRankSum=1.57;SOR=0.673	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1136	20	0	1	0
chr22	39995302	39995302	-	CAAGGC	exonic	FAM83F	.	nonframeshift insertion	FAM83F:NM_138435:exon1:c.260_261insCAAGGC:p.A93_P94insKA,	.	.	342	1175	5	0	0	5	0.00212314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0035	0	0	.	0.0003	0	0	3.84e-05	1	26028	rs752114815	0.0003	0.0003	0.0004	0.0003	0.0014	0.0003	0.0003	0.0011	0.0010	0.0014	0.0003	0	5.603e-05	2.702e-05	0.0009	0.0003	0.0005	8.845e-05	0.0006	0.0006	0.0006	0.0006	0.0016	0.0005	0.0005	0.0013	0.0011	0.0016	0	6.536e-05	0	0	0	0.0034	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	807.94	62	chr22	39995302	.	G	GCAAGGC	807.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.204e+00;DP=785;ExcessHet=0.0000;FS=9.342;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=0.831;SOR=0.978	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1057	20	0	1	0
chr22	40021600	40021600	G	A	exonic	FAM83F	.	nonsynonymous SNV	FAM83F:NM_138435:exon4:c.G1090A:p.G364S,	.	.	407	1112	3	0	0	3	0.0013471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.981	D	0.355	B	0.216	N	1.000	N	1.04	L	3.09	T	-0.985	T	0.013	T	0.402	1.364	10.49	4.79	2.484	2.157	13.197	0.135	0.00885635609565	0.0005	0.000599042	0.0004	0.0004	0.0005	0	0	0.0005	0	0.0005	0.0003816	59	154602	rs138973979	0.0009	0.0008	0.0008	0.0009	0.0010	0.0008	0.0008	0.0009	0.0009	0.0002	0.0005	0	0	1.934e-05	0.0005	0.0010	0.0011	0.0009	0.0005	0.0005	0.0004	0.0005	0.0007	0.0004	0.0003	0.0006	0.0005	0.0002	0	0.0007	0	0	0	0	0.0007	0	0.0006	0.156	0.24090	T	0.272	0.92824	T	0.981	0.59675	D	0.355	0.42984	B	0.216202	0.16246	N	0.626225	0.999998	0.08975	N	2.33	0.66821	M	3.09	0.08371	T	-1.16	0.29727	N	0.339	0.38027	-0.9853	0.33760	T	0.013	0.04985	T	10	0.026163965	0.00790	T	0.008856	0.23366	T	0.135	0.36572	.	.	0.367992661779	0.36405	0.25362860561142664	0.25276	0.388419964531	0.40106	0.411166846752	0.26619	T	0.019397	0.15464	T	-0.428967	0.01503	T	-0.486365	0.23774	T	0.0293189537066554	0.01886	T	0.678632	0.28733	T	0.08254297	0.19020	0.10386258	0.24930	0.08254297	0.19019	0.10386258	0.24930	-3.842	0.21433	T	.	.	0.083	0.12418	B	.;.	.;.	1.643061	0.20970	14.99	0.96196514003309386	0.29010	0.23388	0.22060	N	AEFDBI	0.150140	0.27437	N	-0.282938785524057	0.29808	1.656291	-0.354545448807719	0.26369	1.456042	0.999994797608324	0.74766	0.614807	0.35715	0	0.59043	0.45803	0	0.616094	0.41390	0	0.542086	0.14980	0	.	.	4.79	4.79	0.60909	1.952000	0.39968	3.406000	0.38159	0.676000	0.76740	0.054000	0.21560	0.999000	0.35428	0.003000	0.05239	0.0:0.0:1.0:0.0	13.197	0.59169	788	0.46569	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1966.98	45	chr22	40021600	.	G	A	1966.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.24;DP=1000;ExcessHet=0.0000;FS=4.557;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.53;ReadPosRankSum=0.576;SOR=0.380	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1097	20	0	1	0
chr22	40021772	40021772	G	A	exonic	FAM83F	.	nonsynonymous SNV	FAM83F:NM_138435:exon4:c.G1262A:p.R421Q,	.	.	409	1112	1	0	0	1	0.000449438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.029	B	0.002	B	0.200	N	1.000	N	0.625	N	3.07	T	-0.971	T	0.015	T	0.018	-0.692	0.998	-0.614	-0.621	-0.171	3.968	0.013	0.0043552116728	0.0005	0.000399361	0.0002	0.0025	0.0003	0	0	3.173e-05	0	0	0.000207	32	154602	rs141861984	8.969e-05	8.961e-05	9.265e-05	8.67e-05	0.0018	7.696e-05	7.24e-05	0.0014	0.0013	0.0018	0.0001	0	2.519e-05	0	0.0002	3.328e-05	0.0003	0.0001	0.0005	0.0005	0.0004	0.0006	0.0018	0.0004	0.0004	0.0015	0.0014	0.0018	0	6.533e-05	0	0	0	0.0034	7.353e-05	0	0.0002	0.567	0.06243	T	0.153	0.34241	T	0.029	0.19866	B	0.002	0.06944	B	0.199939	0.03312	N	1.555930	1	0.08975	N	1.1	0.28011	L	3.07	0.08547	T	0.12	0.05604	N	0.046	0.01999	-0.9709	0.37009	T	0.015	0.05946	T	10	0.005182892	0.00113	T	0.004355	0.10592	T	0.013	0.01715	.	.	0.101711395817	0.09552	0.05482347971291139	0.05423	0.256540601776	0.28227	0.207433342934	0.00707	T	0.003882	0.03292	T	-0.748883	0.00018	T	-0.853422	0.00917	T	0.00058893429225237	0.00005	T	0.535646	0.17968	T	0.014988374	0.00117	0.025959516	0.00662	0.014988374	0.00116	0.025959516	0.00662	-3.363	0.14563	T	.	.	0.067	0.03407	B	.;.	.;.	-0.568474	0.01660	0.117	0.73536878605728229	0.10364	0.03750	0.09054	N	AEFDBI	0.076980	0.15498	N	-1.57674261410492	0.01384	0.06036158	-1.58762121000483	0.01731	0.0786886	0.998395183268217	0.36888	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	4.52	-0.614	0.11009	-0.658000	0.05429	-1.274000	0.05845	-1.487000	0.01050	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3232:0.0:0.4137:0.2631	3.968	0.08932	788	0.46569	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1280.98	67	chr22	40021772	.	G	A	1280.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=966;ExcessHet=0.0000;FS=1.008;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.12;ReadPosRankSum=-8.180e-01;SOR=0.489	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1097	20	0	1	0
chr22	40021897	40021897	G	A	exonic	FAM83F	.	nonsynonymous SNV	FAM83F:NM_138435:exon4:c.G1387A:p.E463K,	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.135	B	0.013	B	0.001	N	0.938	D	0.55	N	2.65	T	-1.015	T	0.021	T	0.513	1.709	11.67	4.13	1.396	2.676	12.129	0.169	0.00804765345173	0.0002	.	0.0002	0.0018	0.0002	0	0	0	0	0	0.0001294	20	154602	rs376939521	4.211e-05	4.378e-05	4.114e-05	4.31e-05	0.0011	3.341e-05	3.028e-05	0.0008	0.0007	0.0011	6.931e-05	0	0	0	0.0002	1.809e-06	0.0002	8.148e-05	0.0004	0.0004	0.0003	0.0004	0.0013	0.0003	0.0003	0.0010	0.0009	0.0013	0	6.54e-05	0	0.0002	0	0	2.94e-05	0	0	0.056	0.38185	T	0.228	0.37589	T	0.135	0.27304	B	0.013	0.16460	B	0.001134	0.40136	N	0.091358	0.938094	0.37213	D	1.5	0.37844	L	2.65	0.12676	T	-1.47	0.35991	N	0.165	0.17416	-1.0147	0.25432	T	0.021	0.09101	T	10	0.017718196	0.00380	T	0.008048	0.21342	T	0.169	0.43123	.	.	0.337135696972	0.33324	0.21487929702063946	0.21403	0.261130922638	0.28668	0.33028191328	0.14977	T	0.012295	0.10832	T	-0.453605	0.01075	T	-0.443363	0.28432	T	0.0297548356195785	0.01951	T	0.381762	0.09261	T	0.09960704	0.23508	0.1416863	0.33733	0.09960704	0.23508	0.1416863	0.33732	-3.798	0.24072	T	.	.	0.082	0.11220	B	.;.	.;.	2.586259	0.33543	19.37	0.99383593595977238	0.61979	0.88985	0.49187	D	AEFDBI	0.242009	0.36354	N	-0.533035995407775	0.21018	1.112387	-0.457956725744776	0.23323	1.271324	0.999999721159108	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.14	4.13	0.47661	2.213000	0.42483	4.002000	0.41083	0.676000	0.76740	0.964000	0.33853	1.000000	0.68203	0.004000	0.06068	0.0789:0.0:0.9211:0.0	12.129	0.53235	788	0.46569	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	859.98	54	chr22	40021897	.	G	A	859.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.105;DP=802;ExcessHet=0.0000;FS=8.109;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.93;ReadPosRankSum=0.281;SOR=0.928	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chr22	40365025	40365025	C	A	exonic	ADSL	.	nonsynonymous SNV	ADSL:NM_000026:exon12:c.C1337A:p.P446H	Adenylosuccinase deficiency, Autosomal recessive	YES	0	1517	5	0	0	5	0.00164528	.	.	446422	not_provided|Adenylosuccinate_lyase_deficiency	MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050,Orphanet:46	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	1.000	D	4.215	H	-4.28	D	1.074	D	0.972	D	0.881	4.653	25.6	5.35	2.687	6.884	19.444	0.927	0.110084740249	.	.	2.471e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs755964863	1.847e-05	1.915e-05	1.225e-05	2.475e-05	0.0002	1.265e-05	1.084e-05	0.0002	0.0001	0	0	0	0	0	0	2.698e-06	4.968e-05	0.0002	2.629e-05	2.627e-05	0	5.382e-05	0.0004	8.14e-06	5.14e-06	7.29e-05	3.029e-05	4.829e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.085	0.97236	H	.	.	.	.	.	.	0.919	0.94196	1.074	0.98704	D	0.972	0.99129	D	10	0.9424708	0.93572	D	0.110085	0.78732	D	0.927	0.98229	0.805	0.92301	0.904220992348	0.90326	0.9063602156136374	0.90609	1.08385655912	0.77218	0.572724163532	0.49062	T	0.942047	0.99098	D	0.248876	0.78496	D	0.411866	0.92491	D	0.992155134677887	0.82567	D	0.985721	0.95129	D	0.9737396	0.98597	0.95870954	0.98902	0.9737396	0.98597	0.95870954	0.98902	-10.055	0.74240	D	0.5848813047494815	0.65168	0.601	0.68937	P	.;.;.	.;.;.	4.951556	0.81797	27.6	0.9967317079599769	0.78717	0.99825	0.99703	D	AEFBI	0.830654	0.74933	D	1.02760771081814	0.96531	14.81082	0.925350633482175	0.96585	14.88017	0.999999999999236	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.35	5.35	0.76297	6.959000	0.75826	7.641000	0.63200	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:1.0:0.0:0.0	19.444	0.94833	647	0.63344	Adenylosuccinate lyase C-terminal|Adenylosuccinate lyase C-terminal;Adenylosuccinate lyase C-terminal|Adenylosuccinate lyase C-terminal;Adenylosuccinate lyase C-terminal|Adenylosuccinate lyase C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1107.98	42	chr22	40365025	.	C	A	1107.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.072e+00;DP=784;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.66;ReadPosRankSum=0.067;SOR=0.719	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chr22	40418697	40418697	A	G	exonic	MRTFA	.	nonsynonymous SNV	MRTFA:NM_001282660:exon9:c.T1741C:p.F581L	.	.	385	1134	2	1	0	4	0.00176056	.	.	999481	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.75	T	0.005	B	0.006	B	0.027	N	0.941	N	1.87	L	1.09	T	-1.011	T	0.083	T	0.157	-0.018	3.920	2.71	0.891	1.506	8.409	0.047	0.00721807972224	.	.	3.619e-05	0	0	0	0	0	0	0.0004	3.23e-05	5	154602	rs753110493	5.727e-05	5.069e-05	4.07e-05	7.478e-05	0.0011	4.574e-05	4.157e-05	0.0004	0.0002	0	0	0	0	0	0.0011	2.983e-05	0.0002	0.0004	4.412e-05	4.211e-05	3.232e-05	5.831e-05	0.0012	1.69e-05	1.037e-05	0.0004	0.0002	0	0	0	0	0	0	0	1.652e-05	0	0.0012	1.0	0.02201	T	1.0	0.01155	T	0.0	0.12996	B	0.001	0.12133	B	0.027186	0.25796	N	0.436236	0.997023	0.23995	N	.	.	.	1.08	0.39586	T	-0.05	0.08033	N	0.201	0.26837	-1.0107	0.26698	T	0.083	0.32527	T	10	0.027443796	0.00890	T	0.007218	0.19143	T	0.047	0.12962	0.101	0.01536	0.20808081866	0.20439	.	.	0.0536714916649	0.05925	0.681236505508	0.64445	T	0.034493	0.23342	T	-0.412966	0.01900	T	-0.524997	0.19789	T	0.0244477456327932	0.01201	T	0.723528	0.37862	T	0.07610827	0.17190	0.0715324	0.15330	0.07610827	0.17190	0.0715324	0.15329	-2.091	0.03545	T	.	.	0.591	0.69645	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.579593	0.20215	14.64	0.77888400609066721	0.12065	0.71797	0.35169	D	AEFDBCI	0.095248	0.19246	N	-0.444102182743935	0.23940	1.289184	-0.33474392114768	0.26985	1.494278	0.99910902216894	0.38452	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.89	2.71	0.31092	1.181000	0.31626	2.010000	0.30161	0.688000	0.82842	0.074000	0.22182	1.000000	0.68203	0.936000	0.47498	0.841:0.0:0.159:0.0	8.409	0.31797	545	0.72614	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	205.98	37	chr22	40418697	.	A	G	205.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.119;DP=693;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0247;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.30;ReadPosRankSum=0.850;SOR=0.446	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1295	20	0	1	0
chr22	40419116	40419116	A	C	exonic	MRTFA	.	nonsynonymous SNV	MRTFA:NM_001282660:exon9:c.T1322G:p.V441G	.	.	373	1101	42	6	0	54	0.0239362	.	.	706462	not_provided|MRTFA-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.27	T	0.938	P	0.399	B	0.120	N	1.000	D	2.76	M	0.7	T	-0.744	T	0.181	T	0.39	3.531	18.02	4.92	2.065	5.633	13.287	0.203	.	.	0.00399361	0.0038	0	0.0002	0	0	0.0004	0.0024	0.0162	0.0017011	263	154602	rs200792263	0.0013	0.0013	0.0008	0.0018	0.0150	0.0012	0.0012	0.0143	0.0140	9.183e-05	0.0003	0	0.0002	0	0.0082	0.0004	0.0016	0.0150	0.0007	0.0007	0.0005	0.0009	0.0104	0.0006	0.0005	0.0081	0.0073	2.421e-05	0	0.0003	0	0	0	0.0068	0.0006	0.0009	0.0104	0.05	0.39575	D	0.041	0.70582	D	0.938	0.52538	P	0.399	0.44455	B	0.119849	0.19058	N	0.546246	0.999998	0.58761	D	.	.	.	0.7	0.51952	T	-3.82	0.71997	D	0.488	0.52651	-0.7444	0.58226	T	0.181	0.52813	T	10	0.008742601	0.00198	T	.	.	.	0.203	0.48915	.	.	0.512526160644	0.50892	.	.	0.089058211992	0.10066	0.462075471878	0.33595	T	0.519117	0.83149	D	-0.375297	0.03334	T	-0.299541	0.44774	T	0.0570930614923195	0.06703	T	0.836716	0.52087	T	0.50896835	0.67619	0.3854988	0.63465	0.50896835	0.67620	0.3854988	0.63465	-7.904	0.60414	D	.	.	0.165	0.36455	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.686100	0.52496	23.2	0.99623362330185161	0.75594	0.90171	0.51140	D	AEFDBHCI	0.269436	0.38571	N	0.261401348078066	0.54206	3.586726	0.330704994839459	0.57353	3.900595	0.999892152714616	0.45129	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	4.92	4.92	0.64147	3.915000	0.56121	11.166000	0.87810	0.754000	0.88378	0.998000	0.41325	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	13.287	0.59685	545	0.72614	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	432.98	41	chr22	40419116	.	A	C	432.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.076e+00;DP=782;ExcessHet=0.0000;FS=1.083;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.49;ReadPosRankSum=0.928;SOR=0.677	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1153	20	0	1	0
chr22	40792566	40792566	T	C	exonic	SLC25A17	.	nonsynonymous SNV	SLC25A17:NM_006358:exon4:c.A293G:p.H98R	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.0	B	0.696	N	1.000	N	-0.205	N	-1.12	T	-1.042	T	0.066	T	0.027	-0.303	2.554	-2.39	-0.556	-1.161	5.838	0.264	.	0.0043	0.00459265	0.0014	0.0150	0.0003	0	0	1.657e-05	0	0	0.0011513	178	154602	rs12159334	0.0003	0.0003	0.0004	0.0003	0.0123	0.0003	0.0003	0.0114	0.0110	0.0123	0.0006	0	0	0	0.0005	4.497e-06	0.0008	8.123e-05	0.0036	0.0036	0.0037	0.0035	0.0126	0.0033	0.0032	0.0117	0.0113	0.0126	0	0.0010	0	0	0	0	0	0.0019	0.0002	0.772	0.07330	T	0.663	0.07691	T	0.0	0.02946	B	0.0	0.01387	B	0.696210	0.06175	N	1.149520	1	0.81001	D	0.94	0.23649	L	-1.12	0.77593	T	0.11	0.11366	N	0.044	0.01658	-1.0420	0.16711	T	0.066	0.27191	T	10	0.006257832	0.00141	T	.	.	.	0.264	0.57741	.	.	0.294918367191	0.29099	0.29729815333457477	0.29642	0.210003878732	0.23475	0.706560790539	0.68094	T	0.007093	0.06507	T	-0.539147	0.00339	T	-0.535548	0.18737	T	0.00219768953078095	0.00023	T	0.0259474	0.00157	T	0.023430722	0.01083	0.028996011	0.01190	0.023430722	0.01083	0.028996011	0.01189	-0.04	0.00364	T	.	.	0.063	0.01810	B	.;.	.;.	0.504918	0.08741	5.514	0.82933113567736627	0.14452	0.02007	0.06042	N	AEFDGBI	0.051426	0.09084	N	-1.23673592878052	0.04478	0.2021576	-1.16153268076267	0.06563	0.3163199	0.999720144818113	0.42220	0.732398	0.92422	0	0.698795	0.70079	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	1.83	-2.39	0.06223	0.284000	0.18624	-0.762000	0.07532	-0.177000	0.10537	0.972000	0.34453	0.010000	0.20010	0.995000	0.73285	0.0:0.5391:0.0:0.4609	5.838	0.17876	248	0.90287	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1437.98	109	chr22	40792566	.	T	C	1437.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.315e+00;DP=817;ExcessHet=0.0000;FS=3.557;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=2.57;SOR=0.731	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr22	40861735	40861735	C	G	exonic	DNAJB7	.	nonsynonymous SNV	DNAJB7:NM_145174:exon1:c.G260C:p.G87A,	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.107	B	0.065	B	0.145	N	0.528	N	2.125	M	-0.79	T	-0.486	T	0.203	T	0.164	0.075	4.407	3.69	1.599	-0.034	11.570	0.187	.	.	0.00439297	0.0016	0	8.637e-05	0.0207	0	0	0	0.0010	0.0014683	227	154602	rs141187399	0.0006	0.0006	0.0005	0.0006	0.0164	0.0005	0.0005	0.0154	0.0149	0	4.479e-05	0	0.0164	0	0.0002	8.094e-06	0.0007	0.0015	0.0008	0.0008	0.0007	0.0009	0.0208	0.0007	0.0006	0.0177	0.0165	0	0	6.541e-05	0	0.0208	0	0	1.47e-05	0.0009	0.0017	0.059	0.37536	T	0.077	0.42436	T	0.107	0.26081	B	0.065	0.27321	B	0.145045	0.18158	N	0.477209	0.527657	0.31517	N	2.025	0.55430	M	-0.79	0.73739	T	-3.4	0.67014	D	0.203	0.22486	-0.4857	0.69162	T	0.203	0.55961	T	10	0.0066074133	0.00150	T	.	.	.	0.187	0.46274	.	.	0.930476314975	0.92976	0.4202435528629939	0.41940	0.0180164472936	0.01760	0.249106943607	0.03674	T	0.208156	0.56800	T	-0.453594	0.01075	T	-0.407413	0.32525	T	0.0452882442347557	0.04655	T	0.19528	0.02139	T	0.12542234	0.29403	0.1774933	0.40355	0.12542234	0.29402	0.1774933	0.40354	-7.615	0.58415	D	.	.	0.105	0.19073	B	.	.	1.002031	0.13805	10.36	0.72105323939485821	0.09858	0.27521	0.23301	N	AEFBI	0.095051	0.19209	N	-0.690001154369358	0.16305	0.8295599	-0.708626962299811	0.16745	0.8873194	0.959007647649708	0.28398	0.706298	0.61202	0	0.709663	0.81188	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	4.7	3.69	0.41483	-0.143000	0.10278	0.224000	0.16109	-0.255000	0.07062	0.000000	0.06391	0.010000	0.20010	0.073000	0.16832	0.0:0.9126:0.0:0.0874	11.570	0.50083	242	0.90534	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1413.98	34	chr22	40861735	.	C	G	1413.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.050e-01;DP=812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=0.664;SOR=0.634	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chr22	40861873	40861873	T	G	exonic	DNAJB7	.	nonsynonymous SNV	DNAJB7:NM_145174:exon1:c.A122C:p.E41A,	.	.	431	1070	2	0	19	21	0.000933707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.798	P	0.444	B	0.000	D	1.000	D	-0.325	N	1.49	T	-1.078	T	0.010	T	0.178	2.926	15.75	2.28	0.442	1.022	9.921	0.125	.	0.0063	0.014377	0.0090	0.0016	0.0057	0.0178	0.0014	0.0073	0.0100	0.0211	0.0086868	1343	154602	rs2269619	0.0086	0.0086	0.0081	0.0090	0.0454	0.0084	0.0084	0.0437	0.0430	0.0024	0.0082	0.0284	0.0454	0.0014	0.0214	0.0063	0.0106	0.0190	0.0072	0.0072	0.0071	0.0073	0.0257	0.0069	0.0067	0.0221	0.0208	0.0016	0.0011	0.0153	0.0291	0.0257	0.0016	0.0068	0.0063	0.0090	0.0210	0.022	0.48642	D	0.065	0.44702	T	0.798	0.44840	P	0.444	0.45865	B	0.000023	0.55875	D	0.000000	1	0.81001	D	1.14	0.29013	L	1.49	0.31470	T	-3.77	0.71397	D	0.119	0.10911	-1.0780	0.07741	T	0.010	0.03673	T	10	0.0061478615	0.00138	T	.	.	.	0.125	0.34456	.	.	0.587387877561	0.58413	0.4564600377111516	0.45564	0.0121500780644	0.01158	0.394086062908	0.24243	T	0.193878	0.54949	T	-0.56327	0.00243	T	-0.532408	0.19047	T	0.0665016580134833	0.08151	T	0.671933	0.28057	T	0.33103934	0.55555	0.29807815	0.55841	0.33103934	0.55555	0.29807815	0.55840	-7.333	0.56430	T	.	.	0.085	0.10208	B	.	.	1.939168	0.24630	16.47	0.99263871807972581	0.57322	0.72766	0.35606	D	AEFBI	0.146398	0.26984	N	-0.401280024689455	0.25425	1.380051	-0.315433856626994	0.27600	1.532645	0.864824531615923	0.25297	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.528226	0.09195	0	.	.	4.49	2.28	0.27583	1.023000	0.29668	-0.073000	0.12273	-1.569000	0.00937	0.991000	0.37257	0.941000	0.28781	0.918000	0.45347	0.0:0.0:0.3277:0.6723	9.921	0.40633	242	0.90534	DnaJ domain|DnaJ domain|DnaJ domain|DnaJ domain|DnaJ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2453.08	34	chr22	40861873	.	T	G	2453.08	.	AC=2;AF=0.048;AN=42;DP=771;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.60;SOR=1.032	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	1	0	0
chr22	40924482	40924482	G	A	exonic	XPNPEP3	.	nonsynonymous SNV	XPNPEP3:NM_022098:exon9:c.G1357A:p.G453S,	Nephronophthisis-like nephropathy 1, Autosomal recessive	YES	.	.	.	.	.	.	.	1.0000	0.994	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.37	H	-1.74	D	0.988	D	0.849	D	0.964	4.893	28.1	5.47	2.578	9.543	19.334	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs267607179	5.473e-06	5.472e-06	2.723e-06	8.251e-06	0.0002	2.35e-06	1.7e-06	9.24e-06	4.56e-06	0	0	0	0	1.872e-05	0.0002	1.799e-06	1.656e-05	3.479e-05	6.576e-06	6.568e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.098171	1	0.81001	D	4.62	0.99303	H	-1.74	0.83413	D	-5.63	0.86836	D	0.906	0.90704	0.988	0.96986	D	0.849	0.94974	D	10	0.98346245	0.98485	D	0.247604	0.88976	D	0.934	0.98489	0.852	0.95318	0.904525955387	0.90357	0.9212264742188471	0.92098	0.652231730705	0.58424	0.551191329956	0.46025	T	0.728425	0.92379	D	0.336942	0.85632	D	0.427746	0.92979	D	0.997047245502472	0.90642	D	0.998195	0.99150	D	0.97481155	0.98690	0.945559	0.98125	0.97481155	0.98690	0.945559	0.98126	-12.305	0.86305	D	.	.	0.822	0.78309	P	.	.	8.444176	0.97573	37	0.99797779077841675	0.88283	0.99851	0.99833	D	AEFBI	0.940795	0.94322	D	1.02819390529723	0.96547	14.83031	0.894058186485324	0.95310	13.50065	0.999999998908083	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.47	5.47	0.80345	9.628000	0.97812	11.739000	0.95154	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.836000	0.39433	0.0:0.0:1.0:0.0	19.334	0.94297	255	0.89985	Peptidase M24	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1477.98	34	chr22	40924482	.	G	A	1477.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.660;DP=839;ExcessHet=0.0000;FS=3.045;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.26;ReadPosRankSum=-1.355e+00;SOR=0.471	GT:AD:DP:GQ:PL	0/1:80,64:144:99:1492,0,1964	20	0	1	0
chr22	41127532	41127532	C	G	exonic	EP300	.	nonsynonymous SNV	EP300:NM_001362843:exon4:c.C952G:p.P318A	Colorectal cancer, somatic;Rubinstein-Taybi syndrome 2, Autosomal dominant	.	1	1520	1	0	0	1	0.000328839	.	.	215600	not_provided|not_specified|Rubinstein-Taybi_syndrome_due_to_EP300_haploinsufficiency|EP300-related_disorder	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.9	T	0.024	B	0.035	B	0.037	N	0.764	D	0.895	L	-1.64	D	-0.760	T	0.270	T	0.14	1.547	11.13	3.73	2.857	1.306	3.111	0.213	0.0135464453857	.	.	2.488e-05	0	0	0	0	4.537e-05	0	0	2.59e-05	4	154602	rs762647727	2.941e-05	2.941e-05	2.995e-05	2.888e-05	0.0014	2.216e-05	1.97e-05	0.0007	0.0005	2.987e-05	0.0002	0	0	0	0.0014	2.248e-05	3.311e-05	0	2.628e-05	2.627e-05	2.569e-05	2.69e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.258	0.16683	T	0.311	0.19660	T	0.024	0.19075	B	0.035	0.22741	B	0.036531	0.24511	N	0.285984	0.763547	0.34067	D	-0.46	0.02758	N	-1.64	0.82533	D	-0.4	0.13805	N	0.155	0.16028	-0.7600	0.57405	T	0.270	0.64120	T	10	0.09916365	0.17978	T	0.013546	0.33038	T	0.213	0.50496	0.354	0.35408	0.763884886649	0.76173	0.10021698192741767	0.09952	.	.	0.409803628922	0.26429	T	0.346567	0.71481	T	-0.227369	0.16998	T	-0.367405	0.37192	T	0.0263589149251819	0.01455	T	0.732627	0.34815	T	0.02828497	0.02142	0.03386253	0.02353	0.02828497	0.02141	0.03386253	0.02353	-3.7	0.19318	T	.	.	0.050	0.00139	B	.	.	1.700779	0.21666	15.30	0.8864165022712267	0.18137	0.59109	0.30825	D	AEFDBI	0.055416	0.10160	N	-0.244558909713806	0.31322	1.755068	-0.0297940509438442	0.38375	2.260057	0.647188588158773	0.22120	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.02	3.73	0.41982	1.509000	0.35387	1.348000	0.25786	0.599000	0.40250	0.924000	0.32081	0.788000	0.26838	0.991000	0.66497	0.2411:0.415:0.2577:0.0861	3.111	0.05977	289	0.88525	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	1278.98	33	chr22	41127532	.	C	G	1278.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.19;DP=764;ExcessHet=0.0000;FS=0.926;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.19;ReadPosRankSum=1.55;SOR=0.929	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr22	41209772	41209772	G	C	exonic	L3MBTL2	.	nonsynonymous SNV	L3MBTL2:NM_031488:exon2:c.G101C:p.R34P,	.	.	437	1081	4	0	0	4	0.00184672	.	.	705958	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.03	D	0.789	P	0.222	B	0.015	N	0.591	D	0.695	N	2.18	T	-1.072	T	0.002	T	0.695	3.187	16.67	4.15	2.528	2.157	12.027	0.083	.	0.0012	0.0159744	0.0093	0.0011	0.0869	0.0045	0	0.0008	0.0099	0.0009	0.0094953	1468	154602	rs143455680	0.0036	0.0036	0.0040	0.0031	0.0918	0.0035	0.0035	0.0894	0.0885	0.0011	0.0918	3.826e-05	0.0036	0	0.0021	0.0005	0.0051	0.0008	0.0088	0.0088	0.0076	0.0101	0.0766	0.0084	0.0083	0.0729	0.0715	0.0015	0	0.0766	0	0.0046	0	0	0.0006	0.0199	0.0004	0.018	0.50676	D	0.295	0.20680	T	0.789	0.44570	P	0.222	0.37884	B	0.014691	0.28458	N	0.331247	0.591098	0.32456	D	1.79	0.46772	L	2.18	0.18875	T	-1.58	0.38151	N	0.681	0.68777	-1.0723	0.08915	T	0.002	0.00707	T	10	0.0017636716	0.00023	T	.	.	.	0.083	0.24192	.	.	.	.	0.48811223712575597	0.48731	0.385853151971	0.39878	0.522551417351	0.41986	T	0.041931	0.26020	T	-0.376254	0.03289	T	-0.241172	0.50684	T	0.0290019375447394	0.01838	T	0.844516	0.52185	T	0.31834954	0.54500	0.28808698	0.54823	0.31834954	0.54500	0.28808698	0.54822	-2.649	0.06885	T	.	.	0.172	0.37746	B	.	.	4.458290	0.69369	25.4	0.99507474844105048	0.68440	0.86437	0.45717	D	AEFBI	0.444472	0.50135	N	0.199791998847878	0.51190	3.302212	0.302490858054253	0.55685	3.731458	0.372063011665107	0.19880	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.37	4.15	0.47978	2.228000	0.42625	7.287000	0.58042	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0779:0.1254:0.7968:0.0	12.027	0.52670	258	0.89879	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3055.08	37	chr22	41209772	.	G	C	3055.08	.	AC=2;AF=0.048;AN=42;DP=834;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.55;SOR=0.789	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1620	20	1	0	0
chr22	41237264	41237264	T	C	exonic	CHADL	.	nonsynonymous SNV	CHADL:NM_138481:exon3:c.A1808G:p.N603S,	.	.	.	.	.	.	.	.	.	.	.	2347772	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.999	D	0.000	D	1.000	D	3.315	M	-0.26	T	0.323	D	0.553	D	0.38	2.957	15.86	5.1	1.915	6.066	14.946	0.521	0.179079377995	.	.	0.0005	0	0	0	0	0.0007	0	0.0004	6.47e-05	10	154602	rs549415902	9.655e-05	9.303e-05	8.467e-05	0.0001	0.0016	8.32e-05	7.769e-05	0.0008	0.0006	0	8.403e-05	3.972e-05	0	0	0.0016	7.6e-05	0.0002	0.0004	0.0001	0.0001	0.0001	9.413e-05	0.0003	6.511e-05	5.322e-05	0.0001	8.285e-05	0	0	0.0003	0	0	0	0	0.0001	0.0010	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999905	0.50806	D	3.82	0.95555	H	-0.3	0.67874	T	-4.67	0.80256	D	0.78	0.77695	0.323	0.87914	D	0.553	0.83654	D	10	0.5760934	0.65588	D	0.179079	0.85399	D	0.521	0.79643	.	.	0.467501455318	0.46379	0.7838097004984536	0.78331	0.186787043262	0.20992	0.573697805405	0.49200	T	0.116867	0.58752	T	-0.133101	0.30996	T	-0.120099	0.61794	T	0.599488854408264	0.36380	D	0.926207	0.73102	D	0.7826893	0.82819	0.7522932	0.85359	0.7826893	0.82821	0.7522932	0.85360	-11.152	0.80485	D	.	.	0.719	0.73746	P	.;.	.;.	4.088568	0.60878	24.3	0.998270170023836	0.90939	0.89872	0.50624	D	AEFDBCI	0.815266	0.73729	D	0.333273124986533	0.57863	3.955509	0.279237558035211	0.54330	3.598178	0.999999999999787	0.74766	0.580535	0.33130	0	0.491552	0.07993	0	0.503968	0.08637	0	0.604944	0.38103	0	.	.	5.1	5.1	0.68917	7.990000	0.87862	7.753000	0.68172	0.664000	0.56970	1.000000	0.71638	1.000000	0.68203	0.461000	0.28141	0.0:0.0:0.0:1.0	14.946	0.70682	160	0.93798	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2327.08	38	chr22	41237264	.	T	C	2327.08	.	AC=2;AF=0.048;AN=42;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.32;SOR=0.749	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1045	20	1	0	0
chr22	41436852	41436852	G	T	exonic	TOB2	.	nonsynonymous SNV	TOB2:NM_016272:exon2:c.C494A:p.T165N,	.	.	416	1103	3	0	0	3	0.00135808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.975	D	0.717	P	0.000	D	1.000	D	1.845	L	0.73	T	-0.747	T	0.232	T	0.313	4.646	25.5	6.07	2.884	7.279	20.644	0.143	0.0144140388169	.	.	2.48e-05	0	0	0	0	4.512e-05	0	0	1.94e-05	3	154602	rs765640014	1.3e-05	1.3e-05	1.633e-05	9.626e-06	0.0003	8.31e-06	6.7e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	1.169e-05	1.656e-05	3.478e-05	6.571e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.72154	D	0.155	0.31936	T	0.975	0.58077	D	0.717	0.54739	P	0.000014	0.62929	D	0.115830	0.99976	0.48888	D	2.135	0.59519	M	0.73	0.50721	T	-1.34	0.33401	N	0.377	0.41853	-0.7471	0.58087	T	0.232	0.59769	T	10	0.26691434	0.44200	T	0.014414	0.34508	T	0.143	0.38195	0.18	0.08751	0.198222871337	0.19423	0.5638141198988336	0.56308	1.03443667668	0.75538	0.604209661484	0.53498	T	0.280127	0.65283	T	-0.185173	0.22969	T	-0.322237	0.42329	T	0.481581926345825	0.31955	T	0.939806	0.77272	D	0.32971075	0.55448	0.35554886	0.61080	0.32971075	0.55448	0.35554886	0.61080	-4.13	0.25730	T	.	.	0.311	0.53868	B	.	.	4.374604	0.67375	25.1	0.99239173583235385	0.56469	0.98053	0.79201	D	AEFBCI	0.885971	0.81695	D	0.757652087427888	0.83404	8.008275	0.798160887866802	0.89665	10.070	0.99999999999999	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.07	6.07	0.98675	6.831000	0.75116	9.973000	0.82874	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.644	0.99572	180	0.92993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1532.98	41	chr22	41436852	.	G	T	1532.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.22;DP=883;ExcessHet=0.0000;FS=2.656;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.80;ReadPosRankSum=-1.767e+00;SOR=0.973	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1158	20	0	1	0
chr22	41436985	41436985	C	T	exonic	TOB2	.	nonsynonymous SNV	TOB2:NM_016272:exon2:c.G361A:p.G121S,	.	.	.	.	.	.	.	.	.	.	.	2304247	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.31	T	0.374	B	0.033	B	0.000	D	0.720	D	1.2	L	0.85	T	-0.940	T	0.083	T	0.095	2.413	14.03	6.07	2.884	0.929	7.985	0.087	0.00473956831219	0.0005	0.000399361	7.416e-05	0.0008	0	0	0	1.499e-05	0	0	7.12e-05	11	154602	rs150938078	3.078e-05	3.078e-05	3.403e-05	2.75e-05	0.0008	2.347e-05	2.095e-05	0.0005	0.0005	0.0008	0	7.652e-05	0	0	0	1.079e-05	6.623e-05	1.159e-05	0.0003	0.0003	0.0002	0.0003	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	0.0002	0	0	0	0	1.471e-05	0.0005	0	0.068	0.35726	T	0.151	0.32355	T	0.374	0.34192	B	0.033	0.22329	B	0.000124	0.49741	D	0.133325	0.720145	0.33609	D	1.175	0.29870	L	0.85	0.47130	T	-0.89	0.24026	N	0.06	0.03175	-0.9401	0.42600	T	0.083	0.32642	T	10	0.014762253	0.00310	T	0.00474	0.11816	T	0.087	0.25287	.	.	0.228066490088	0.22430	0.3719334557174347	0.37107	0.317085791368	0.33956	0.336588531733	0.15927	T	0.151213	0.49105	T	-0.508969	0.00509	T	-0.586907	0.13935	T	0.0405119319865001	0.03783	T	0.756224	0.37950	T	0.06392937	0.13513	0.059879355	0.11311	0.06392937	0.13512	0.059879355	0.11311	-2.455	0.05481	T	.	.	0.061	0.01179	B	.	.	2.357692	0.30237	18.37	0.99356073177641158	0.60779	0.32329	0.24558	N	AEFDBCI	0.184892	0.31222	N	-0.300805989616451	0.29119	1.611952	-0.236422012299518	0.30242	1.701062	0.999995624422077	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.07	6.07	0.98675	1.179000	0.31602	2.198000	0.31263	0.599000	0.40250	0.005000	0.17040	0.106000	0.22736	0.943000	0.48514	0.0:0.8162:0.0:0.1838	7.985	0.29368	180	0.92993	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2205.98	41	chr22	41436985	.	C	T	2205.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.300e-02;DP=1050;ExcessHet=0.0000;FS=0.534;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=-1.688e+00;SOR=0.744	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1158	20	0	1	0
chr22	41544071	41544071	C	T	exonic	POLR3H	.	nonsynonymous SNV	POLR3H:NM_001018050:exon1:c.G31A:p.V11I	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.929	P	0.472	P	0.001	N	1.000	D	0.96	L	.	.	-1.005	T	0.134	T	0.518	2.865	15.54	5.16	2.396	7.026	17.623	0.366	0.0095186656751	0.0002	0.000199681	0.0007	0	0	0	0.0002	0.0004	0	0.0034	0.0006209	96	154602	rs148608238	0.0004	0.0005	0.0003	0.0006	0.0037	0.0004	0.0004	0.0033	0.0032	2.989e-05	8.946e-05	0.0016	0	0.0001	0.0009	0.0002	0.0005	0.0037	0.0003	0.0003	0.0002	0.0004	0.0033	0.0003	0.0002	0.0021	0.0017	2.405e-05	0	0.0003	0.0020	0	9.411e-05	0	0.0003	0	0.0033	0.282	0.15406	T	0.361	0.16914	T	0.19	0.30183	B	0.084	0.29270	B	0.001028	0.40562	N	0.207799	1	0.81001	D	0.99	0.25021	L	.	.	.	-0.5	0.17210	N	0.682	0.69125	-1.0054	0.28337	T	0.134	0.44778	T	9	0.017573118	0.00376	T	0.009519	0.24924	T	0.366	0.68582	.	.	0.510872562601	0.50726	0.512383547656992	0.51160	0.127319244009	0.14350	0.745487093925	0.73780	T	0.040541	0.25563	T	-0.275969	0.11099	T	-0.171923	0.57267	T	0.105148360913921	0.12914	T	0.961604	0.85550	D	0.1343191	0.31212	0.15599123	0.36541	0.1343191	0.31212	0.15599123	0.36541	-5.844	0.44956	T	.	.	0.097	0.28521	B	.;.;.;.	.;.;.;.	3.716858	0.53094	23.3	0.98579434131518562	0.43219	0.73265	0.35840	D	ALL	0.763821	0.70080	D	0.12484112794001	0.47622	2.985478	0.266699792551792	0.53605	3.528664	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.16	5.16	0.70563	7.568000	0.81546	5.780000	0.49798	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	17.623	0.87988	95	0.96074	RNA polymerase Rpb7, N-terminal;RNA polymerase Rpb7, N-terminal;.;RNA polymerase Rpb7, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	910.98	42	chr22	41544071	.	C	T	910.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.37;DP=835;ExcessHet=0.0000;FS=2.438;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.80;ReadPosRankSum=0.777;SOR=1.140	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1149	20	0	1	0
chr22	41586172	41586172	C	T	exonic	PMM1	.	nonsynonymous SNV	PMM1:NM_002676:exon2:c.G109A:p.A37T,	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.0	B	0.0	B	0.173	N	1.000	N	0.655	N	-4.82	D	0.203	D	0.799	D	0.087	2.189	13.28	1.96	0.216	1.496	6.133	0.258	0.0745809131451	.	0.000199681	0.0001	9.796e-05	0.0002	0	0	4.538e-05	0	0.0005	9.7e-05	15	154602	rs542899408	7.883e-05	8.209e-05	6.412e-05	9.369e-05	0.0007	6.68e-05	6.214e-05	0.0005	0.0005	5.985e-05	0.0001	3.829e-05	0	0	0.0005	3.418e-05	0.0001	0.0007	5.254e-05	5.25e-05	6.426e-05	4.029e-05	0.0006	2.556e-05	1.829e-05	0.0002	9.003e-05	7.218e-05	0	0	0	0	0	0	2.941e-05	0	0.0006	0.263	0.16412	T	0.311	0.19660	T	0.0	0.02946	B	0.0	0.01387	B	0.172779	0.17327	N	0.579827	0.961079	0.26122	N	0.79	0.19579	N	-4.82	0.98198	D	-0.37	0.13226	N	0.29	0.32812	0.203	0.85960	D	0.799	0.93198	D	10	0.07840848	0.12493	T	0.074581	0.72077	D	0.258	0.56959	0.331	0.31681	0.923209768708	0.92242	0.33109612779718284	0.33022	0.343857825352	0.36312	0.406272530556	0.25940	T	0.690261	0.90987	D	-0.260927	0.12793	T	-0.260861	0.48738	T	0.0173662253853184	0.00475	T	0.489851	0.15048	T	0.034704678	0.03946	0.053919658	0.09175	0.034704678	0.03946	0.053919658	0.09175	-5.305	0.39993	T	.	.	0.081	0.08368	B	.	.	1.777443	0.22601	15.69	0.96056974389854899	0.28582	0.73038	0.35733	D	AEFBI	0.222293	0.34681	N	-0.88754881873684	0.11138	0.5358867	-0.780586264683251	0.14971	0.7850493	0.950279873373783	0.27887	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.699875	0.68795	0	.	.	5.18	1.96	0.25203	1.226000	0.32167	1.786000	0.28758	-0.860000	0.02636	0.548000	0.27330	0.928000	0.28476	0.485000	0.28678	0.0:0.6429:0.1339:0.2233	6.133	0.19432	107	0.95615	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1816.11	33	chr22	41586172	.	C	T	1816.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.57;DP=822;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=1.38;SOR=0.704	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	19	0	2	0
chr22	41781685	41781685	C	T	exonic	MEI1	.	nonsynonymous SNV	MEI1:NM_152513:exon24:c.C2927T:p.A976V,	.	.	.	.	.	.	.	.	.	0.2231	0.506	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.859	P	0.41	B	0.000	D	1.000	D	1.845	L	-0.6	T	-0.502	T	0.286	T	0.509	2.507	14.34	4.9	1.507	0.936	9.051	0.248	0.0370812736698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.19157	T	0.008	0.67890	D	0.859	0.47319	P	0.41	0.44785	B	0.000002	0.62929	D	0.058541	1	0.81001	D	1.585	0.39878	L	-0.6	0.71662	T	-1.62	0.38924	N	0.258	0.29197	-0.5020	0.68578	T	0.286	0.65763	T	10	0.26074597	0.43526	T	0.037081	0.57392	D	0.248	0.55615	0.294	0.25720	0.727849289409	0.72543	0.2935103339082006	0.29264	0.50985493563	0.49121	0.394629538059	0.24320	T	0.158017	0.50086	T	-0.0129081	0.49858	T	-0.256318	0.49191	T	0.943492531776428	0.61871	D	0.747125	0.36767	T	0.11829702	0.27873	0.13853893	0.33082	0.11829702	0.27873	0.13853893	0.33082	-0.757	0.00767	T	.	.	0.126	0.26638	B	.	.	3.079600	0.41422	21.4	0.9911077568147737	0.52725	0.53414	0.29366	D	AEFGBHCI	0.149543	0.27365	N	0.145352781985368	0.48592	3.069593	0.204335868312841	0.50088	3.204528	0.99999847813073	0.74766	0.559995	0.30671	0	0.52208	0.09955	0	0.547309	0.15389	0	0.550183	0.17644	0	.	.	5.91	4.9	0.63643	1.133000	0.31043	3.954000	0.40696	0.599000	0.40250	0.856000	0.30544	0.999000	0.35428	0.808000	0.38083	0.0:0.8347:0.0:0.1653	9.051	0.35539	122	0.95130	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	625.98	34	chr22	41781685	.	C	T	625.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.050e-01;DP=733;ExcessHet=0.0000;FS=2.883;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.27;ReadPosRankSum=0.999;SOR=1.392	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr22	41866945	41866947	GCA	-	exonic	SREBF2	.	nonframeshift deletion	SREBF2:NM_004599:exon2:c.203_205del:p.S74del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0046	0.0052	0.0066	0.0051	0.0024	0.0046	0.0022	0.0036	0.0001153	3	26028	rs143615881	6.878e-06	0.0025	6.842e-06	6.914e-06	1.165e-05	3.48e-06	2.54e-06	8.5e-07	5.7e-07	0	0	0	0	7.583e-05	0	3.615e-06	1.666e-05	1.165e-05	1.317e-05	9.859e-05	2.574e-05	0	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	141.94	33	chr22	41866944	.	GGCA	G	141.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.677e+00;DP=828;ExcessHet=0.0000;FS=1.183;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.26;ReadPosRankSum=-6.380e-01;SOR=0.827	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	20	0	1	0
chr22	41880986	41880986	A	G	exonic	SREBF2	.	nonsynonymous SNV	SREBF2:NM_004599:exon10:c.A2032G:p.I678V,	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.068	B	0.024	B	0.000	D	0.998	D	0.69	N	1.73	T	-1.085	T	0.041	T	0.306	1.722	11.72	2.61	0.707	1.972	11.452	0.040	0.0144190608454	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1354329361	1.031e-05	1.026e-05	8.21e-06	1.243e-05	0.0002	6.19e-06	4.91e-06	6.52e-06	5.03e-06	0	0	0	0	0	0.0002	1.169e-05	0	1.16e-05	2.628e-05	2.626e-05	3.854e-05	1.345e-05	6.543e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.543e-05	0	0	0	0	4.41e-05	0	0	0.112	0.28900	T	0.112	0.37037	T	0.068	0.23728	B	0.024	0.20255	B	0.000117	0.50451	D	0.176014	0.998311	0.44758	D	0.49	0.13296	N	1.73	0.26445	T	-0.29	0.11728	N	0.158	0.16447	-1.0852	0.06371	T	0.041	0.17742	T	10	0.0757412	0.11743	T	0.014419	0.34525	T	0.040	0.10527	0.187	0.09646	0.147330786459	0.14319	0.16820316065622065	0.16740	0.145403873013	0.16431	0.494408845901	0.38051	T	0.247725	0.61741	T	-0.17391	0.24645	T	-0.487586	0.23643	T	0.112983047962189	0.13730	T	0.929107	0.73907	D	0.03180651	0.03088	0.06278413	0.12336	0.03180651	0.03087	0.06278413	0.12336	-3.982	0.23533	T	.	.	0.085	0.10304	B	.	.	1.647757	0.21022	15.02	0.98302606232120149	0.40058	0.91861	0.54422	D	AEFBI	0.336566	0.43464	N	-0.356766432589544	0.27025	1.479477	-0.223232343714147	0.30706	1.731165	0.190815860518686	0.17997	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.95	2.61	0.30255	1.978000	0.40221	3.813000	0.39918	0.677000	0.82338	1.000000	0.71638	0.995000	0.32472	0.617000	0.31819	0.5593:0.4407:0.0:0.0	11.452	0.49403	128	0.94857	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1305.98	38	chr22	41880986	.	A	G	1305.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.361e+00;DP=873;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=0.607;SOR=0.705	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	20	0	1	0
chr22	41909797	41909797	T	C	exonic	SHISA8	.	nonsynonymous SNV	SHISA8:NM_001207020:exon4:c.A1162G:p.R388G	.	.	431	1053	37	1	0	39	0.0181818	.	.	2819613	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0052	0	0	0	.	0.0168	0	0.0015	0.0004528	70	154602	rs756893043	0.0011	0.0011	0.0011	0.0012	0.0196	0.0011	0.0011	0.0166	0.0155	0.0012	0.0010	0.0166	0	0	0.0196	0.0007	0.0026	0.0011	0.0012	0.0012	0.0012	0.0012	0.0019	0.0010	0.0010	0.0010	0.0008	0.0003	0.0033	0.0010	0.0158	0	0	0.0204	0.0011	0.0028	0.0019	.	.	.	0.424	0.13953	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.17140	.	.	.	.	.	.	.	0.008136481	0.00185	T	.	.	.	.	.	.	.	0.631991100555	0.62898	0.1294892711660731	0.12873	.	.	0.441900193691	0.30837	T	.	.	.	-0.308221	0.07906	T	-0.271863	0.47630	T	.	.	.	0.50265	0.15781	T	0.33455953	0.55842	0.341038	0.59848	0.33455953	0.55842	0.341038	0.59848	-4.31	0.28316	T	.	.	0.108	0.20313	B	.	.	2.696450	0.35208	19.84	0.64420621177009363	0.07489	0.14849	0.18617	N	AEFDBCIJ	.	.	.	.	.	.	.	.	.	0.999979861925652	0.50053	0.256391	0.04301	0	0.274575	0.05135	0	0.183864	0.04481	0	0.109499	0.03221	0	0.145135	0.27050	3.8	2.63	0.30420	1.037000	0.29850	1.412000	0.26289	0.659000	0.54702	0.775000	0.29414	0.999000	0.35428	0.889000	0.42754	0.2262:0.1233:0.0:0.6505	2.706	0.04843	131	0.94738	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1036.98	36	chr22	41909797	.	T	C	1036.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.230e-01;DP=790;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.80;ReadPosRankSum=0.365;SOR=0.682	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,101,1181	20	0	1	0
chr22	41910521	41910521	G	A	exonic	SHISA8	.	nonsynonymous SNV	SHISA8:NM_001207020:exon3:c.C698T:p.S233L	.	.	398	1120	4	0	0	4	0.00178253	.	.	2755697	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	.	.	.	3.84e-05	1	26028	rs756513515	4.116e-05	7.935e-05	3.497e-05	4.796e-05	0.0009	3.138e-05	2.8e-05	0.0006	0.0005	0	0	0	0	0	0.0003	2.256e-05	4.575e-05	0.0009	3.95e-05	3.939e-05	2.576e-05	5.385e-05	0.0012	1.718e-05	1.131e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	.	.	.	0.728	0.05203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.18376	.	.	.	.	.	.	.	0.084609896	0.14200	T	.	.	.	.	.	.	.	0.577039446349	0.57373	0.4123819860216839	0.41154	.	.	0.559238791466	0.47161	T	.	.	.	-0.153105	0.27828	T	-0.457701	0.26851	T	.	.	.	0.616438	0.23595	T	0.152166	0.34555	0.25777754	0.51499	0.152166	0.34555	0.25777754	0.51498	-2.86	0.08749	T	.	.	0.083	0.08997	B	.	.	1.834529	0.23309	15.97	0.86643063377808394	0.16674	0.08936	0.14788	N	AEFDBHCIJ	.	.	.	.	.	.	.	.	.	0.999985738955244	0.51787	0.206829	0.04106	0	0.332779	0.05852	0	0.080604	0.02511	2	0.109499	0.03221	0	0.0697475	0.16433	5.12	2.91	0.32903	0.860000	0.27527	5.698000	0.49367	0.562000	0.28470	0.028000	0.20300	0.990000	0.31317	0.014000	0.10232	0.2239:0.0:0.7761:0.0	7.491	0.26631	131	0.94738	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	359.98	30	chr22	41910521	.	G	A	359.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=518;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=-1.260e+00;SOR=0.671	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,931	20	0	1	0
chr22	41972349	41972349	C	A	exonic	SEPTIN3	.	nonsynonymous SNV	SEPTIN3:NM_001363845:exon2:c.C857A:p.P286Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083120495	0.13792	T	.	.	.	.	.	.	.	.	.	0.016256031403246652	0.01581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207779	0.02478	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.28290	B	.	.	0.518595	0.08874	5.653	0.70870711652048324	0.09438	0.03130	0.08080	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.790996996020246	0.24015	0.080785	0.02172	0	0.096583	0.02683	0	0.060301	0.00762	0	0.058706	0.01089	0	0.179087	0.29407	3.85	1.62	0.22817	0.191000	0.16883	-0.178000	0.11160	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.420000	0.27228	0.2335:0.6523:0.0:0.1141	4.748	0.12423	124	0.95048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	38.53	55	chr22	41972349	.	C	A	38.53	.	AC=2;AF=0.100;AN=20;DP=55;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3360;MLEAC=2;MLEAF=0.100;MQ=60.00;QD=19.27;SOR=0.693	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,49	9	1	0	11
chr22	42078022	42078022	G	C	exonic	PHETA2	.	nonsynonymous SNV	PHETA2:NM_001002034:exon3:c.G729C:p.Q243H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.845	P	0.533	P	0.613	N	0.546	D	0.55	N	0.83	T	-0.776	T	0.135	T	0.143	1.416	10.67	5.22	2.432	3.446	16.964	0.081	0.0259672161405	.	.	1.246e-05	0	0	0	0	2.25e-05	0	0	6.5e-06	1	154602	rs754522461	7.545e-06	7.524e-06	9.551e-06	5.518e-06	0.0003	4.05e-06	2.96e-06	6.107e-05	2.527e-05	0	2.256e-05	0	0	0	0.0003	5.403e-06	3.324e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.26629	T	0.143	0.33219	T	0.845	0.46707	P	0.533	0.48638	P	0.612579	0.10852	N	0.818085	0.546409	0.32096	D	2.505	0.72935	M	0.83	0.47815	T	-1.78	0.42001	N	0.117	0.10626	-0.7759	0.56531	T	0.135	0.45029	T	10	0.20271182	0.36401	T	0.025967	0.48910	D	0.081	0.23632	0.22	0.14224	0.218112801441	0.21410	0.2783581610854638	0.27748	0.47288450683	0.46523	0.236071109772	0.02447	T	0.024926	0.18739	T	-0.17504	0.24476	T	-0.48921	0.23475	T	0.23684765709445	0.22274	T	0.462454	0.13421	T	0.12561241	0.29442	0.11086617	0.26737	0.12561241	0.29441	0.11086617	0.26736	-4.781	0.34369	T	.	.	0.235	0.46870	B	.	.	2.158122	0.27490	17.48	0.97697730889078627	0.35418	0.97617	0.75933	D	AEFDBI	0.628134	0.61034	D	0.180685878563099	0.50272	3.218849	0.217127310894882	0.50797	3.268071	0.999999999373166	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.22	5.22	0.72285	3.522000	0.53236	4.000000	0.41065	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.077000	0.17074	0.0:0.0:1.0:0.0	16.964	0.86152	108	0.95573	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1165.98	42	chr22	42078022	.	G	C	1165.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.810e-01;DP=896;ExcessHet=0.0000;FS=0.829;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.05;ReadPosRankSum=1.30;SOR=0.593	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	20	0	1	0
chr22	42086248	42086248	G	A	exonic	NDUFA6	.	nonsynonymous SNV	NDUFA6:NM_002490:exon3:c.C322T:p.H108Y,	.	.	414	1070	37	1	0	39	0.0178981	.	.	215603	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.008	B	0.004	B	0.000	D	1.000	D	2.3	M	-0.11	T	-0.739	T	0.220	T	0.53	3.474	17.78	6.17	2.941	5.464	20.474	0.182	0.00650887435971	0.0036	0.00339457	0.0028	0.0074	0.0017	0	0	0.0034	0.0077	0.0008	0.0026261	406	154602	rs113437301	0.0017	0.0017	0.0017	0.0018	0.0199	0.0017	0.0016	0.0170	0.0159	0.0079	0.0021	0.0307	0	0	0.0199	0.0008	0.0046	0.0011	0.0037	0.0037	0.0038	0.0037	0.0073	0.0034	0.0033	0.0067	0.0064	0.0073	0.0033	0.0037	0.0288	0	0	0.0238	0.0011	0.0052	0.0019	.	.	.	0.115	0.36630	T	.	.	.	.	.	.	0.000001	0.62929	D	0.131299	0.999274	0.46519	D	.	.	.	.	.	.	.	.	.	0.179	0.23125	-0.7386	0.58524	T	0.220	0.58253	T	10	0.007718563	0.00175	T	0.006509	0.17157	T	0.182	0.45420	.	.	0.215869574891	0.21205	0.7120836117721743	0.71150	0.240868912627	0.26625	0.622457921505	0.56076	T	0.035167	0.23613	T	-0.316477	0.07190	T	-0.223508	0.52398	T	0.0155966509877632	0.00356	T	.	.	.	0.4964389	0.66885	0.66959906	0.80617	0.7058119	0.78377	0.63814104	0.78868	-6.719	0.51954	T	.	.	0.149	0.38263	B	.;.;.	.;.;.	3.598522	0.50813	23.0	0.99581292421025602	0.73040	0.93725	0.59013	D	AEFDBCIJ	0.748094	0.68995	D	0.270511061285913	0.54660	3.631111	0.44168999425464	0.64186	4.667936	0.999999466425253	0.74766	0.741895	0.98168	0	0.702456	0.74545	0	0.702456	0.68683	0	0.725737	0.93299	0	.	.	6.17	6.17	0.99707	5.603000	0.67304	9.943000	0.82671	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.474	0.99171	108	0.95573	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	792.98	34	chr22	42086248	.	G	A	792.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.299e+00;DP=786;ExcessHet=0.0000;FS=1.849;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.91;ReadPosRankSum=2.28;SOR=0.493	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1187	20	0	1	0
chr22	42126877	42126877	G	A	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon7:c.C1136T:p.P379L	.	.	3	1516	3	0	0	3	0.000988468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.99	D	0.761	P	0.718	N	0.962	N	2.6	M	-0.44	T	-0.562	T	0.398	T	0.182	2.974	15.91	-0.28	-0.316	-0.900	11.175	0.323	0.144987812844	.	0.000599042	0.0004	0.0011	0	0	0	0.0001	0	0.0005	0.0001921	5	26028	rs3021084	0.0001	0.0002	9.225e-05	0.0001	0.0006	9.07e-05	8.54e-05	0.0005	0.0004	0.0005	0.0001	0	0.0001	0	0.0005	6.158e-05	0.0001	0.0006	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0003	0.0003	0.0005	0	6.579e-05	0	0.0002	0	0	7.382e-05	0	0.0006	0.019	0.50132	D	0.073	0.48336	T	.	.	.	.	.	.	0.717800	0.09960	N	0.871665	0.971698	0.25640	N	1.255	0.31814	L	-0.44	0.69777	T	-3.77	0.76655	D	0.211	0.32370	-0.5623	0.66316	T	0.398	0.75045	T	10	0.07836032	0.12479	T	0.144988	0.82721	D	0.323	0.64522	.	.	0.774184965001	0.77210	0.5618480706216105	0.56111	0.444170810499	0.44332	0.272574156523	0.06479	T	0.015828	0.30526	T	-0.385736	0.02865	T	-0.467916	0.25742	T	0.0947852012280804	0.11773	T	0.964504	0.86967	D	0.1406056	0.32433	0.1346403	0.32257	0.1406056	0.32433	0.1346403	0.32256	-9.465	0.70840	D	.	.	0.205	0.44592	B	.;.;.;.;.	.;.;.;.;.	2.165884	0.27598	17.52	0.99575945526640208	0.72682	0.06982	0.13008	N	AEFI	0.399828	0.47496	N	-0.224322569620784	0.32137	1.809272	-0.434078138476595	0.24004	1.312076	1.18816738180606E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.604944	0.38103	0	.	.	4.85	-0.28	0.12248	-1.132000	0.03346	-4.030000	0.02383	-0.156000	0.11795	0.000000	0.06391	0.000000	0.08366	0.787000	0.37188	0.0:0.0942:0.2238:0.682	11.175	0.47819	106	0.95650	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1511.98	33	chr22	42126877	.	G	A	1511.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=1039;ExcessHet=0.0000;FS=0.612;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=40.14;MQRankSum=-1.383e+00;QD=9.69;ReadPosRankSum=-1.135e+00;SOR=0.776	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	20	0	1	0
chr22	42128181	42128181	A	T	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon4:c.T683A:p.M228K	.	.	2	1515	4	1	0	6	0.00197628	.	.	817952	Tramadol_response	MedGen:CN078023	no_assertion_criteria_provided	drug_response	.	.	.	.	.	.	.	.	0.01	D	0.002	B	0.035	B	0.108	N	1.000	D	0.665	N	-0.11	T	-0.875	T	0.146	T	0.764	2.552	14.49	3.28	1.741	3.377	10.398	0.321	.	.	0.00419329	0.0023	0.0003	0.0182	0	0	0	0	0.0051	0.0017464	270	154602	rs1135828	0.0010	0.0012	0.0008	0.0012	0.0114	0.0009	0.0009	0.0108	0.0105	0	0.0086	0	0.0002	0	0	1.083e-05	0.0011	0.0114	0.0010	0.0010	0.0006	0.0013	0.0161	0.0008	0.0008	0.0131	0.0120	0.0001	0	0.0040	0	0	0	0	1.503e-05	0.0005	0.0161	0.008	0.58626	D	0.021	0.60972	D	.	.	.	.	.	.	0.107920	0.19550	N	0.495958	0.999682	0.48270	D	1.74	0.45129	L	-0.11	0.64445	T	-4.41	0.77965	D	0.413	0.53181	-0.8752	0.50135	T	0.146	0.46967	T	10	0.010121793	0.00226	T	.	.	.	0.321	0.64318	.	.	0.588834294336	0.58558	0.7882639691376796	0.78778	0.183163157925	0.20599	0.341386795044	0.16645	T	0.025134	0.38968	T	-0.204384	0.20176	T	-0.0569654	0.66543	D	0.0681880821534846	0.08396	T	0.637336	0.25103	T	0.36416996	0.58151	0.341908	0.59924	0.36416996	0.58152	0.341908	0.59923	-6.928	0.53507	T	.	.	0.295	0.52614	B	.;.;.;.;.	.;.;.;.;.	3.172921	0.43041	21.7	0.95143471143796843	0.26268	0.55735	0.29939	D	AEFDI	0.650506	0.62459	D	-0.421261016782285	0.24725	1.337097	-0.320743469659828	0.27429	1.521972	0.0255723852043059	0.13657	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.4	3.28	0.36691	4.791000	0.62154	9.013000	0.78554	0.691000	0.84096	0.666000	0.28313	0.987000	0.30940	0.355000	0.25773	0.8373:0.1627:0.0:0.0	10.398	0.43398	106	0.95650	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1143.98	37	chr22	42128181	.	A	T	1143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=7.12;DP=851;ExcessHet=0.0000;FS=4.056;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.33;MQRankSum=-8.947e+00;QD=12.17;ReadPosRankSum=-1.320e-01;SOR=0.957	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1485	20	0	1	0
chr22	42128185	42128185	C	T	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon4:c.G679A:p.E227K	.	.	2	1515	4	1	0	6	0.00197628	.	.	817953	Tramadol_response	MedGen:CN078023	no_assertion_criteria_provided	drug_response	.	.	.	.	.	.	.	.	0.26	T	0.118	B	0.309	B	0.000	D	1.000	D	1.405	L	-0.24	T	-0.733	T	0.252	T	0.744	2.946	15.82	2.0	0.919	0.856	12.683	0.329	.	.	0.00399361	0.0007	0	0	0	0	0	0	0.0051	0.0011526	30	26028	rs77913725	0.0007	0.0009	0.0005	0.0010	0.0115	0.0007	0.0007	0.0109	0.0107	0	2.265e-05	0	0.0002	0	0	9.019e-06	0.0009	0.0115	0.0005	0.0005	0.0002	0.0008	0.0152	0.0004	0.0004	0.0124	0.0114	9.816e-05	0	0	0	0	0	0	1.478e-05	0.0005	0.0152	0.01	0.56456	D	0.141	0.33442	T	.	.	.	.	.	.	0.000330	0.45700	D	0.148252	0.999976	0.53665	D	1.35	0.33515	L	-0.24	0.66834	T	-3.74	0.71042	D	0.426	0.50868	-0.7333	0.58796	T	0.252	0.62166	T	10	0.0071584284	0.00163	T	.	.	.	0.329	0.65126	0.598	0.72862	0.648949747153	0.64603	0.7808645444419238	0.78037	0.140136811154	0.15799	0.427451491356	0.28861	T	0.018513	0.37672	T	-0.121261	0.32916	T	-0.118472	0.61929	T	0.131292493978093	0.15501	T	0.791621	0.47040	T	0.4159809	0.61824	0.3414125	0.59881	0.4159809	0.61824	0.3414125	0.59880	-9.076	0.68184	D	.	.	0.273	0.52881	B	.;.;.;.;.	.;.;.;.;.	2.420013	0.31114	18.64	0.9975775541097498	0.84772	0.44473	0.27326	N	AEFDI	0.482620	0.52341	N	-0.473328352916868	0.22956	1.229463	-0.444953648382078	0.23692	1.293378	8.61634359655264E-4	0.07931	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.4	2.0	0.25495	0.365000	0.20076	-0.008000	0.13101	0.549000	0.26987	0.023000	0.19925	0.000000	0.08366	0.295000	0.24381	0.0:0.6826:0.3174:0.0	12.683	0.56296	106	0.95650	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1162.98	37	chr22	42128185	.	C	T	1162.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.64;DP=855;ExcessHet=0.0000;FS=2.781;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.82;MQRankSum=-8.929e+00;QD=12.11;ReadPosRankSum=-6.340e-01;SOR=0.894	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1485	20	0	1	0
chr22	42128812	42128812	A	G	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon3:c.T485C:p.L162P	.	.	1	1317	204	0	0	204	0.0718816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.985	D	0.956	D	0.079	N	0.984	D	3.03	M	-0.46	T	0.414	D	0.663	D	0.879	2.493	14.30	3.52	1.832	2.182	8.696	0.557	0.0602619546016	.	.	0.0034	0.0012	0.0015	0.0014	0.0018	0.0047	0.0040	0.0021	0.0023544	364	154602	rs199535154	0.0003	0.0094	0.0003	0.0003	0.0022	0.0002	0.0002	0.0013	0.0011	0.0015	0.0003	0.0004	0.0006	0.0006	0.0022	0.0002	0.0003	0.0003	0.0001	0.0016	6.523e-05	0.0002	0.0004	7.691e-05	6.376e-05	0.0001	8.654e-05	0.0002	0	0	0	0.0004	0	0	0.0001	0	0	0.016	0.72154	D	0.004	0.74150	D	.	.	.	.	.	.	0.079050	0.21007	N	0.393637	0.984414	0.40142	D	3.135	0.88152	M	-1.43	0.80730	T	-5.73	0.87611	D	0.817	0.81261	0.414	0.89311	D	0.663	0.88295	D	10	0.12101528	0.22933	T	0.060262	0.67943	D	0.557	0.81774	.	.	0.906819982349	0.90588	0.8191287958858098	0.81869	0.67802315983	0.59861	0.312496066093	0.12283	T	0.044594	0.40051	T	0.029515	0.55659	T	0.219179	0.84132	D	0.250423282384872	0.22892	T	0.739826	0.35853	T	0.5728783	0.71218	0.38634163	0.63529	0.5728783	0.71219	0.38634163	0.63529	-9.555	0.71201	D	.	.	0.479	0.69738	A	.;.;.;.;.	.;.;.;.;.	3.184167	0.43231	21.7	0.99267575361889293	0.57423	0.11286	0.16533	N	AEFDBI	0.398871	0.47438	N	0.0379738385441093	0.43589	2.64896	-0.230169009795182	0.30461	1.715271	5.06273264100705E-4	0.07176	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	3.52	3.52	0.39415	2.920000	0.48541	1.949000	0.29874	-0.094000	0.16080	0.013000	0.18845	0.000000	0.08366	0.000000	0.00833	1.0:0.0:0.0:0.0	8.696	0.33455	106	0.95650	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	891.68	38	chr22	42128812	.	A	G	891.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.540e-01;DP=1677;ExcessHet=0.3300;FS=18.967;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=52.04;MQRankSum=-5.575e+00;QD=1.64;ReadPosRankSum=-3.230e+00;SOR=2.825	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:151,0:151:99:.:.:0,120,1800	18	0	3	0
chr22	42141584	42141584	G	A	exonic	CYP2D7	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.016	B	0.107	B	0.008	N	1.000	D	.	.	.	.	-0.921	T	0.175	T	.	-1.099	0.144	0.223	0.025	0.575	8.133	0.049	.	.	.	0.0003	0.0026	0.0003	0	0	0	0.0011	6.124e-05	0.0002005	31	154602	rs778653964	6.325e-05	6.757e-05	7.574e-05	5.081e-05	0.0022	5.189e-05	4.848e-05	0.0018	0.0016	0.0022	0.0001	0	2.559e-05	0	0	0	8.717e-05	4.746e-05	0.0005	0.0005	0.0005	0.0006	0.0018	0.0004	0.0004	0.0015	0.0014	0.0018	0	6.54e-05	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	0.008405	0.30856	N	0.310402	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.161	0.16864	-0.9207	0.45458	T	0.175	0.51848	T	8	0.021625161	0.00522	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	.	.	.	.	.	.	.	0.079146	0.36059	T	-0.510853	0.00496	T	-0.512439	0.21063	T	0.0267915925844863	0.01515	T	0.726827	0.34443	T	0.038315192	0.05080	0.05492819	0.09540	0.038315192	0.05079	0.05492819	0.09539	-7.11	0.54832	T	.	.	0.109	0.44188	B	.;.	.;.	-0.743862	0.01222	0.061	0.58645548850843854	0.06040	0.29223	0.23765	N	AEFDBI	0.013634	0.00188	N	-0.961786533231828	0.09429	0.4462315	-1.01910217386783	0.09365	0.4655215	0.162037114668088	0.17608	0.090766	0.02384	0	0.09434	0.02614	0	0.129117	0.03641	0	0.083433	0.02327	0	.	.	3.59	0.223	0.14568	0.618000	0.24068	-0.137000	0.11557	-1.937000	0.00494	0.844000	0.30348	0.000000	0.08366	0.003000	0.05239	0.2866:0.0:0.7134:0.0	8.133	0.30200	106	0.95650	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1744.98	148	chr22	42141584	.	G	A	1744.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.71;DP=1650;ExcessHet=0.0000;FS=1.341;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=-1.310e+00;SOR=0.862	GT:AD:DP:GQ:PL	0/0:99,0:99:99:0,120,1800	20	0	1	0
chr22	42141910	42141910	T	G	exonic	CYP2D7	.	unknown	UNKNOWN,	.	.	1	1466	53	2	0	57	0.0190699	.	.	2819621	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0058	0.0063	0.0031	0.0011	0.0002	0.0045	0.0087	0.0159	0.0037322	577	154602	rs199515619	0.0022	0.0024	0.0022	0.0023	0.0202	0.0022	0.0022	0.0172	0.0161	0.0071	0.0027	0.0317	0.0068	0.0004	0.0202	0.0011	0.0046	0.0028	0.0036	0.0037	0.0035	0.0037	0.0059	0.0034	0.0033	0.0053	0.0050	0.0059	0.0033	0.0039	0.0306	0.0016	0.0005	0.0238	0.0013	0.0043	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1318.98	83	chr22	42141910	.	T	G	1318.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.49;DP=1577;ExcessHet=0.0000;FS=4.051;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.54;MQRankSum=-9.634e+00;QD=10.22;ReadPosRankSum=3.97;SOR=0.522	GT:AD:DP:GQ:PL	0/0:91,0:91:99:0,120,1800	20	0	1	0
chr22	42397946	42397946	C	T	exonic	NFAM1	.	nonsynonymous SNV	NFAM1:NM_145912:exon4:c.G575A:p.R192Q	.	.	.	.	.	.	.	.	.	.	.	2454807	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.71	T	0.003	B	0.001	B	0.011	N	1.000	N	-0.55	N	2.1	T	-1.019	T	0.016	T	0.054	-0.793	0.695	-7.48	-2.933	-2.963	4.603	0.008	0.00250016185109	7.7e-05	.	6.029e-05	0.0002	0	0	0	7.657e-05	0	0	5.17e-05	8	154602	rs369551888	1.594e-05	1.916e-05	1.793e-05	1.392e-05	0.0005	1.061e-05	8.86e-06	0.0001	7.649e-05	0.0001	2.354e-05	0	0	0	0.0005	1.091e-05	1.676e-05	2.354e-05	2.628e-05	2.626e-05	2.569e-05	2.69e-05	9.649e-05	8.14e-06	5.14e-06	3.249e-05	1.914e-05	9.649e-05	0	0	0	0	0	0	0	0	0	0.552	0.06543	T	0.7	0.05727	T	0.003	0.11197	B	0.001	0.04355	B	0.011423	0.01306	N	3.414860	1	0.08975	N	.	.	.	2.1	0.19990	T	0.51	0.02898	N	0.07	0.04307	-1.0187	0.24139	T	0.016	0.06711	T	10	0.029697716	0.01096	T	0.003	0.04980	T	0.008	0.00669	.	.	0.0611884634855	0.05136	0.1347075981104268	0.13394	0.0652307833919	0.07282	0.178465396166	0.00081	T	0.009876	0.08963	T	-0.636701	0.00087	T	-0.872918	0.00715	T	0.00970050785690546	0.00127	T	0.338666	0.07278	T	0.0177333	0.00298	0.025308818	0.00572	0.0177333	0.00298	0.025308818	0.00571	-3.432	0.15490	T	.	.	0.077	0.06525	B	.	.	-0.950915	0.00844	0.029	0.36626213066829294	0.02367	0.00850	0.03394	N	AEFBCI	0.029462	0.02785	N	-2.08951217417785	0.00135	0.005781734	-2.15820570944377	0.00139	0.006102448	0.999999999121018	0.74766	0.495158	0.18159	0	0.616935	0.53198	0	0.602189	0.34648	0	0.562822	0.20929	0	.	.	3.74	-7.48	0.01216	-2.970000	0.00733	-2.555000	0.03614	-0.900000	0.02330	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.194:0.5771:0.1019:0.1269	4.603	0.11756	236	0.90801	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	688.98	36	chr22	42397946	.	C	T	688.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.77;DP=812;ExcessHet=0.0000;FS=4.578;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.01;ReadPosRankSum=-1.074e+00;SOR=1.230	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1109	20	0	1	0
chr22	42516082	42516082	G	T	exonic	RRP7A	.	nonsynonymous SNV	RRP7A:NM_015703:exon3:c.C271A:p.Q91K,	.	.	418	1103	1	0	0	1	0.000453104	.	.	3316697	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.43	T	0.02	B	0.007	B	0.031	N	0.716	N	1.83	L	2.35	T	-1.057	T	0.036	T	0.263	-0.793	0.695	2.9	0.954	2.203	7.278	0.027	0.00417023265129	7.7e-05	.	7.467e-05	0	0	0	0	1.512e-05	0	0.0005	6.47e-05	10	154602	rs367706570	6.501e-05	6.498e-05	4.902e-05	8.116e-05	0.0007	5.43e-05	5.043e-05	0.0005	0.0005	0	2.239e-05	0	0	0	0.0003	2.519e-05	0.0001	0.0007	3.285e-05	3.283e-05	3.854e-05	2.69e-05	0.0006	1.261e-05	7.98e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0006	0.399	0.10517	T	0.462	0.12526	T	0.02	0.18235	B	0.007	0.12992	B	0.031091	0.25217	N	0.438172	0.716	0.29971	N	1.865	0.49290	L	2.35	0.16217	T	-1.62	0.38924	N	0.328	0.36884	-1.0569	0.12543	T	0.036	0.15465	T	10	0.037659794	0.02134	T	0.00417	0.10026	T	0.027	0.05988	.	.	0.247872288689	0.24386	0.3074601714829804	0.30659	0.0353957791626	0.03735	0.408020079136	0.26183	T	0.00501	0.04439	T	-0.480879	0.00731	T	-0.556262	0.16731	T	0.0300239926198278	0.01993	T	0.533547	0.17787	T	0.049451713	0.08783	0.055688433	0.09815	0.049451713	0.08782	0.055688433	0.09814	-8.598	0.65076	D	.	.	0.079	0.07224	B	.	.	1.918245	0.24361	16.37	0.69454785331189883	0.08978	0.71251	0.34933	D	AEFDGBHCI	0.198409	0.32527	N	-0.628921397334156	0.18080	0.9357572	-0.583683530332434	0.19918	1.07084	0.998531037553004	0.37148	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.93	2.9	0.32809	2.294000	0.43227	8.318000	0.76958	-0.219000	0.08017	0.993000	0.37899	1.000000	0.68203	0.012000	0.09680	0.1379:0.0:0.7103:0.1519	7.278	0.25472	216	0.91608	Rrp7A, RNA recognition motif	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	645.98	33	chr22	42516082	.	G	T	645.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.050e-01;DP=903;ExcessHet=0.0000;FS=2.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.66;ReadPosRankSum=-1.494e+00;SOR=0.442	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1085	20	0	1	0
chr22	42556539	42556539	T	G	exonic	SERHL2	.	nonsynonymous SNV	SERHL2:NM_001284334:exon4:c.T182G:p.V61G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.986	D	0.000	D	1.000	D	3.72	H	-0.89	T	0.175	D	0.623	D	0.938	1.886	12.26	2.06	0.581	2.646	7.249	0.743	0.267525326896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.999	0.90584	D	0.976	0.76916	D	0.000011	0.62929	D	0.066123	1	0.81001	D	.	.	.	-0.89	0.74793	T	-6.12	0.90332	D	0.734	0.75834	0.175	0.85491	D	0.623	0.86738	D	10	0.8614321	0.85365	D	0.267525	0.89750	D	0.743	0.91112	0.694	0.83126	0.92220556239	0.92142	0.9014059482551177	0.90112	2.55511015912	0.97939	0.457724839449	0.32999	T	0.174109	0.52321	T	0.379328	0.88664	D	0.307102	0.88520	D	0.998575329780579	0.94534	D	0.784422	0.44280	T	0.8310436	0.85975	0.68094337	0.81252	0.8310436	0.85976	0.68094337	0.81252	-13.965	0.92942	D	.	.	0.347	0.61633	A	.;.;.;.	.;.;.;.	3.624119	0.51305	23.1	0.99327617884541508	0.59661	0.86180	0.45412	D	AEFGI	0.196993	0.32394	N	0.400641011724702	0.61458	4.347165	0.172301099025306	0.48335	3.05082	0.518494784044137	0.21076	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	3.1	2.06	0.25932	2.964000	0.48885	4.015000	0.41197	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.159000	0.20615	0.0:0.1076:0.0:0.8924	7.249	0.25315	255	0.89985	Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1|Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1|Alpha/beta hydrolase fold-1;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	136.98	36	chr22	42556539	.	T	G	136.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.762e+00;DP=873;ExcessHet=0.0000;FS=122.360;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.35;MQRankSum=-6.820e-01;QD=1.73;ReadPosRankSum=3.24;SOR=6.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1150	20	0	1	0
chr22	42556543	42556543	T	G	exonic	SERHL2	.	nonsynonymous SNV	SERHL2:NM_001284334:exon4:c.T186G:p.D62E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	0.821	P	0.441	B	0.002	N	1.000	N	1.315	L	2.21	T	-0.999	T	0.032	T	0.212	-0.580	1.393	-2.85	-0.806	-1.272	13.100	0.034	0.00832094364314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.22053	T	0.309	0.27503	T	0.247	0.31125	B	0.162	0.34839	B	0.001569	0.38612	N	0.282552	1	0.81001	D	.	.	.	2.21	0.18414	T	-1.49	0.39314	N	0.24	0.29544	-0.9991	0.30171	T	0.032	0.13854	T	10	0.09874669	0.17874	T	0.008321	0.22029	T	0.034	0.08419	0.426	0.47185	0.0138822411134	0.00435	0.4609707125075393	0.46015	1.10801927807	0.77958	0.357379436493	0.19003	T	0.012546	0.11008	T	-0.274701	0.11238	T	-0.632365	0.10235	T	0.54435122013092	0.34266	D	0.765423	0.44184	T	0.054485157	0.10461	0.05899406	0.10998	0.054485157	0.10460	0.05899406	0.10998	-5.382	0.40746	T	.	.	0.151	0.43748	B	.;.;.;.	.;.;.;.	0.944701	0.13207	9.706	0.6887751483704877	0.08795	0.14419	0.18393	N	AEFGI	0.179759	0.30705	N	-1.20641032318746	0.04905	0.2224121	-1.28055921703542	0.04693	0.2219803	0.532846911749338	0.21189	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	3.1	-2.85	0.05392	-0.976000	0.03896	-3.158000	0.03012	-0.735000	0.03699	0.469000	0.26714	0.000000	0.08366	0.069000	0.16583	0.0:0.6645:0.0:0.3355	13.100	0.58628	255	0.89985	Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1|Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1|Alpha/beta hydrolase fold-1;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09375	507.45	36	chr22	42556543	.	T	G	507.45	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-2.766e+00;DP=1305;ExcessHet=0.3300;FS=195.461;InbreedingCoeff=-0.1760;MLEAC=4;MLEAF=0.125;MQ=54.99;MQRankSum=-9.840e-01;QD=1.67;ReadPosRankSum=1.80;SOR=9.967	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:97,35:132:65:.:.:65,0,1571	13	0	3	5
chr22	42556563	42556563	C	T	exonic	SERHL2	.	nonsynonymous SNV	SERHL2:NM_001284334:exon4:c.C206T:p.T69M	.	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.404	B	0.08	B	0.286	N	1.000	N	1.485	L	-0.33	T	-0.981	T	0.159	T	0.417	1.830	12.08	2.08	0.884	1.036	3.632	0.198	.	0.0009	.	0.0028	0.0002	0.0016	0.0002	0	0.0011	0.0022	0.0149	0.0022639	350	154602	rs138994162	0.0012	0.0015	0.0010	0.0014	0.0082	0.0012	0.0012	0.0077	0.0075	0.0003	0.0014	0.0033	0.0001	0	0.0016	0.0007	0.0017	0.0082	0.0008	0.0009	0.0006	0.0011	0.0091	0.0007	0.0007	0.0069	0.0061	7.258e-05	0	0.0006	0.0044	0	0	0	0.0008	0.0005	0.0091	0.048	0.42783	D	0.078	0.47828	T	0.191	0.29470	B	0.08	0.28873	B	0.286036	0.14856	N	0.674587	1	0.08975	N	.	.	.	-0.33	0.68329	T	-1.9	0.50012	N	0.169	0.21449	-0.9814	0.34678	T	0.159	0.49313	T	10	0.0051770806	0.00113	T	.	.	.	0.198	0.48105	.	.	0.411531665326	0.40769	0.6804990556788537	0.67988	1.16575227399	0.79615	0.281120538712	0.07648	T	0.013722	0.11817	T	-0.38328	0.02971	T	-0.31594	0.43019	T	0.00802689277242401	0.00095	T	0.822518	0.48813	T	0.020715497	0.00640	0.045029864	0.05968	0.020715497	0.00640	0.045029864	0.05967	-7.259	0.55903	T	.	.	0.152	0.34383	B	.;.;.;.	.;.;.;.	2.160353	0.27526	17.49	0.99585961244755994	0.73277	0.07144	0.13169	N	AEFGI	0.060756	0.11569	N	-0.883607810607181	0.11232	0.5409406	-0.970336476334684	0.10455	0.5266819	0.305673957486034	0.19235	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	3.1	2.08	0.26079	0.655000	0.24618	1.492000	0.26896	-0.182000	0.10109	0.000000	0.06391	0.002000	0.18203	0.000000	0.00833	0.1656:0.5716:0.1618:0.101	3.632	0.07678	255	0.89985	Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	799.98	36	chr22	42556563	.	C	T	799.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.290e-01;DP=904;ExcessHet=0.0000;FS=3.553;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.58;MQRankSum=2.23;QD=6.72;ReadPosRankSum=-2.960e-01;SOR=1.075	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	20	0	1	0
chr22	42572511	42572511	G	A	exonic	SERHL2	.	nonsynonymous SNV	SERHL2:NM_001284334:exon9:c.G615A:p.M205I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.003	B	0.007	B	0.199	N	1.000	N	-0.695	N	2.59	T	-1.048	T	0.075	T	0.357	-0.167	3.186	-1.28	-0.243	-0.187	2.299	0.032	0.0101292604596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.85e-07	6.841e-07	1.363e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.35165	T	0.191	0.46182	T	0.002	0.11197	B	0.004	0.12992	B	0.198932	0.16651	N	0.522214	1	0.18198	N	0.55	0.14455	N	-0.25	0.67011	T	-0.25	0.11185	N	0.19	0.27554	-1.0482	0.14903	T	0.075	0.30117	T	10	0.06772247	0.09475	T	0.010129	0.26302	T	0.032	0.07718	0.455	0.51938	0.193865811164	0.18958	0.29226090172237906	0.29139	0.00189985442068	0.00161	0.413026571274	0.26876	T	4.96E-4	0.00182	T	-0.105456	0.35522	T	-0.389257	0.34638	T	0.0553896017372608	0.06423	T	0.456654	0.19007	T	0.05405611	0.10320	0.050292447	0.07865	0.05405611	0.10319	0.050292447	0.07864	-4.834	0.34985	T	.	.	0.302	0.65172	B	.;.;.	.;.;.	0.681041	0.10493	7.210	0.66023524221425101	0.07939	0.05457	0.11336	N	AEFDBCI	0.032710	0.03746	N	-1.48319150591985	0.01968	0.08643538	-1.51352372375958	0.02240	0.1027055	0.0412059671507482	0.14474	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	2.27	-1.28	0.08834	-0.415000	0.07170	0.132000	0.15059	-0.244000	0.07312	0.000000	0.06391	0.007000	0.19602	0.004000	0.06068	0.2991:0.0:0.2844:0.4165	2.299	0.03903	254	0.90023	Alpha/beta hydrolase fold-1;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	933.98	34	chr22	42572511	.	G	A	933.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.250e-01;DP=756;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.84;MQRankSum=0.00;QD=12.45;ReadPosRankSum=-1.700e-01;SOR=0.728	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1010	20	0	1	0
chr22	42573937	42573937	A	G	exonic	SERHL2	.	nonsynonymous SNV	SERHL2:NM_001284334:exon10:c.A635G:p.Q212R	.	.	428	1066	25	2	1	30	0.0134197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.0	B	0.001	B	0.340	N	0.851	N	-1.06	N	2.63	T	-0.932	T	0.007	T	0.282	-1.198	0.073	0.677	-0.231	0.253	9.210	0.042	0.00273946324379	0.0018	0.00239617	0.0023	0.0016	0.0004	0.0014	0.0027	0.0032	0.0022	0.0011	0.0030077	465	154602	rs138265477	0.0038	0.0047	0.0038	0.0038	0.0038	0.0037	0.0036	0.0037	0.0037	0.0010	0.0016	0.0099	0.0021	0.0062	0.0037	0.0038	0.0044	0.0026	0.0059	0.0077	0.0058	0.0060	0.0084	0.0055	0.0054	0.0075	0.0073	0.0019	0.0143	0.0049	0.0105	0.0013	0.0062	0.0106	0.0081	0.0048	0.0084	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.340459	0.13971	N	0.660400	1	0.28491	N	-1.545	0.00469	N	2.63	0.12884	T	1.04	0.01350	N	0.018	0.01911	-0.9322	0.43814	T	0.007	0.02518	T	10	0.0032922626	0.00057	T	0.002739	0.05665	T	0.042	0.11227	.	.	0.0138822411134	0.00435	0.12637963387391346	0.12563	0.00194193416123	0.00161	0.314020216465	0.12514	T	0.001342	0.00816	T	-0.616796	0.00115	T	-0.649366	0.08998	T	0.00100489590793231	0.00010	T	0.136686	0.03932	T	0.028621312	0.02227	0.04173513	0.04812	0.028621312	0.02227	0.04173513	0.04812	-0.233	0.04655	T	.	.	0.064	0.01645	B	.;.;.	.;.;.	-0.362353	0.02357	0.256	0.69060806457524659	0.08852	0.05371	0.11233	N	AEFDGBCI	0.028698	0.02576	N	-1.69285038434225	0.00867	0.03753006	-1.55999469358862	0.01908	0.08702481	4.14785957651922E-4	0.06899	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.05	0.677	0.17130	0.374000	0.20232	-0.109000	0.11851	-2.314000	0.00318	0.746000	0.29090	0.000000	0.08366	0.035000	0.13729	0.5051:0.0:0.4949:0.0	9.210	0.36477	254	0.90023	Alpha/beta hydrolase fold-1;.;.	.	.	.	.	rs138265477	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	127.11	73	chr22	42573937	.	A	G	127.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.24;DP=1140;ExcessHet=0.1072;FS=11.950;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=56.27;MQRankSum=-7.028e+00;QD=0.93;ReadPosRankSum=-2.921e+00;SOR=2.170	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:96,0:96:99:.:.:0,120,1800	19	0	2	0
chr22	42619789	42619789	C	T	exonic	CYB5R3	.	nonsynonymous SNV	CYB5R3:NM_000398:exon9:c.G890A:p.R297H	Methemoglobinemia, type I, Autosomal recessive;Methemoglobinemia, type II, Autosomal recessive	.	1	1463	55	3	0	61	0.0204218	.	.	682758	not_provided|Neurodevelopmental_delay|CYB5R3-related_disorder	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.12	T	0.991	D	0.523	P	0.113	N	0.998	D	1.205	L	-3.59	D	0.235	D	0.703	D	0.303	3.423	17.57	1.82	1.079	0.396	6.587	0.319	.	0.0022	0.00119808	0.0040	0.0014	0.0022	0	0	0.0037	0.0149	0.0073	0.0016494	255	154602	rs76458556	0.0023	0.0023	0.0021	0.0025	0.0153	0.0022	0.0022	0.0128	0.0118	0.0005	0.0014	0.0007	0	6.285e-05	0.0153	0.0022	0.0024	0.0068	0.0016	0.0016	0.0015	0.0017	0.0054	0.0014	0.0014	0.0038	0.0032	0.0005	0.0022	0.0011	0.0003	0	0.0002	0.0068	0.0025	0.0019	0.0054	0.077	0.34095	T	0.087	0.40747	T	0.084	0.24799	B	0.016	0.17743	B	0.113182	0.19326	N	0.434279	0.998303	0.44746	D	1.25	0.31749	L	-3.59	0.94975	D	-1.94	0.45042	N	0.111	0.32921	0.235	0.86489	D	0.703	0.89764	D	10	0.007664025	0.00174	T	.	.	.	0.319	0.64112	.	.	0.960624261791	0.96019	0.6007211945832572	0.60003	0.0434582521418	0.04681	0.357403516769	0.19007	T	0.117295	0.43728	T	-0.244098	0.14831	T	-0.120517	0.61760	T	0.0289255598202967	0.01825	T	0.840716	0.51609	T	0.09107395	0.21330	0.07129316	0.15248	0.14577486	0.33399	0.059444956	0.11156	-7.29	0.56124	T	.	.	0.082	0.19316	B	.;.;.;.;.	.;.;.;.;.	2.354933	0.30199	18.36	0.99866928314332859	0.94457	0.78552	0.38772	D	AEFDBCI	0.364338	0.45291	N	-0.13187722446818	0.36009	2.075726	-0.0963347161300037	0.35541	2.057451	0.999798002284709	0.43153	0.706548	0.73137	0	0.702456	0.74545	0	0.786243	0.99158	0	0.714379	0.83352	0	.	.	4.09	1.82	0.24209	1.193000	0.31771	0.542000	0.19343	-0.270000	0.06752	1.000000	0.71638	0.997000	0.33255	0.838000	0.39538	0.225:0.6724:0.0:0.1026	6.587	0.21822	255	0.89985	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	951.98	33	chr22	42619789	.	C	T	951.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.02;ReadPosRankSum=-6.410e-01;SOR=0.735	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,111,1544	20	0	1	0
chr22	43124099	43124099	C	T	exonic	BIK	.	nonsynonymous SNV	BIK:NM_001197:exon2:c.C77T:p.T26I,	.	.	429	1079	13	1	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.051	B	0.048	B	.	.	1.000	N	0.55	N	1.92	T	-0.996	T	0.015	T	0.029	1.753	11.82	-2.62	-0.492	-0.888	0.524	0.019	.	0.0083	0.00279553	0.0083	0.0019	0.0025	0.0002	0.0210	0.0105	0.0121	0.0059	0.0080529	1245	154602	rs11090143	0.0098	0.0098	0.0097	0.0098	0.0104	0.0097	0.0096	0.0103	0.0102	0.0019	0.0029	0.0026	7.557e-05	0.0232	0.0029	0.0104	0.0090	0.0077	0.0075	0.0075	0.0075	0.0075	0.0105	0.0071	0.0070	0.0099	0.0096	0.0019	0.0022	0.0033	0.0026	0.0002	0.0235	0	0.0105	0.0066	0.0050	0.039	0.42487	D	0.079	0.42086	T	0.051	0.22415	B	0.048	0.24975	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	1.92	0.23082	T	-1.69	0.40274	N	0.1	0.08227	-0.9956	0.31136	T	0.015	0.05897	T	9	0.0035405755	0.00063	T	.	.	.	0.019	0.03383	.	.	0.143124449307	0.13826	0.030796811608915953	0.03028	0.0923363113691	0.10425	0.284139275551	0.08076	T	0.140903	0.47568	T	-0.708882	0.00032	T	-0.780649	0.02433	T	0.0135060138231187	0.00247	T	0.348865	0.07732	T	0.04954497	0.08812	0.043538105	0.05439	0.04954497	0.08812	0.043538105	0.05438	-3.591	0.17727	T	.	.	0.210	0.43707	B	.	.	0.426402	0.07970	4.681	0.99461169962531915	0.65788	0.01242	0.04380	N	AEFDBI	0.027895	0.02361	N	-1.34130423540383	0.03215	0.1432762	-1.44065222837804	0.02856	0.1321483	0.99934780394985	0.39222	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	2.55	-2.62	0.05793	-0.887000	0.04260	-0.612000	0.08217	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.193:0.3557:0.1897:0.2616	0.524	0.00576	809	0.43032	.	.	.	.	.	rs11090143	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1972.98	34	chr22	43124099	.	C	T	1972.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.117;DP=823;ExcessHet=0.0000;FS=4.336;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.18;ReadPosRankSum=-1.316e+00;SOR=0.405	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1218	20	0	1	0
chr22	43129255	43129255	G	C	exonic	BIK	.	nonsynonymous SNV	BIK:NM_001197:exon5:c.G433C:p.A145P,	.	.	412	1106	1	0	3	4	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.989	D	0.828	P	0.145	N	0.895	N	0.55	N	1.78	T	-0.964	T	0.093	T	0.576	2.156	13.17	3.62	1.174	-0.100	11.496	0.160	0.00627873438899	.	.	5.339e-05	0	0	0	0	9.82e-05	0	0	.	.	.	rs867355694	1.317e-05	1.374e-05	1.38e-05	1.254e-05	0.0004	8.43e-06	6.79e-06	6.371e-05	2.625e-05	0	4.507e-05	0	0	0	0.0004	1.356e-05	0	0	1.986e-05	1.982e-05	1.294e-05	2.711e-05	4.431e-05	5.28e-06	2.47e-06	1.176e-05	6.26e-06	0	0	0	0	0	0	0	4.431e-05	0	0	0.164	0.23360	T	0.102	0.38450	T	0.989	0.62824	D	0.828	0.59497	P	0.145427	0.02919	N	2.124800	0.89481	0.27815	N	0.55	0.14455	N	1.78	0.25678	T	-2.11	0.48020	N	0.305	0.34444	-0.9637	0.38468	T	0.093	0.35336	T	10	0.18232599	0.33507	T	0.006279	0.16493	T	0.160	0.41473	0.444	0.50139	0.299427821978	0.29548	0.09695279231547634	0.09627	0.0330782671808	0.03458	0.331558465958	0.15170	T	0.197199	0.55380	T	-0.168329	0.25488	T	-0.47957	0.24492	T	0.238666281104088	0.22358	T	0.259974	0.04152	T	0.1714774	0.37784	0.2841341	0.54410	0.1714774	0.37784	0.2841341	0.54409	-2.841	0.08567	T	.	.	0.213	0.44148	B	.	.	1.660314	0.21177	15.08	0.99498003056907813	0.67859	0.00871	0.03451	N	ALL	0.034677	0.04338	N	-0.129769831450848	0.36099	2.082192	-0.218660508216381	0.30868	1.741722	0.99999956995116	0.74766	0.495158	0.18159	0	0.519925	0.08708	0	0.535252	0.11790	0	0.613276	0.41899	0	.	.	4.64	3.62	0.40616	-0.152000	0.10145	0.262000	0.16556	-1.054000	0.01632	0.005000	0.17040	0.047000	0.21741	0.002000	0.04165	0.0:0.7887:0.2113:0.0	11.496	0.49657	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1021.98	27	chr22	43129255	.	G	C	1021.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.192e+00;DP=830;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.97;ReadPosRankSum=0.232;SOR=0.752	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr22	43129256	43129256	C	T	exonic	BIK	.	nonsynonymous SNV	BIK:NM_001197:exon5:c.C434T:p.A145V,	.	.	415	1090	14	0	3	17	0.00638104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.113	B	0.05	B	0.145	N	0.962	N	0.55	N	1.9	T	-1.026	T	0.024	T	0.167	1.143	9.657	3.61	0.829	-0.338	7.253	0.056	.	0.0025	0.00339457	0.0042	0.0011	0.0029	0	0.0005	0.0064	0.0074	0.0018	0.003868	598	154602	rs148407250	0.0049	0.0049	0.0049	0.0049	0.0096	0.0048	0.0048	0.0076	0.0068	0.0009	0.0039	0.0065	0	0.0003	0.0096	0.0056	0.0052	0.0020	0.0038	0.0038	0.0041	0.0036	0.0071	0.0036	0.0035	0.0060	0.0056	0.0008	0	0.0071	0.0096	0.0002	0.0002	0.0069	0.0057	0.0048	0.0013	0.596	0.05703	T	1.0	0.01155	T	0.113	0.26349	B	0.05	0.25278	B	0.145427	0.02919	N	2.124800	0.961926	0.26087	N	0.55	0.14455	N	1.9	0.23486	T	0.96	0.01488	N	0.108	0.09349	-1.0255	0.21919	T	0.024	0.10103	T	10	0.004980862	0.00107	T	.	.	.	0.056	0.15993	.	.	0.202949470691	0.19918	0.009953428289389917	0.00957	0.0336267795191	0.03527	0.306395083666	0.11363	T	0.088783	0.38232	T	-0.611504	0.00124	T	-0.648131	0.09084	T	0.0113428626977373	0.00168	T	0.309269	0.05988	T	0.020216616	0.00573	0.037289545	0.03352	0.020216616	0.00573	0.037289545	0.03352	-3.414	0.15245	T	.	.	0.114	0.22825	B	.	.	1.331438	0.17365	13.12	0.99046876665381955	0.51162	0.00593	0.02656	N	ALL	0.028383	0.02490	N	-0.896321564513598	0.10929	0.5247801	-0.822752233153428	0.13945	0.7260938	0.9999989973616	0.74766	0.495158	0.18159	0	0.519925	0.08708	0	0.535252	0.11790	0	0.613276	0.41899	0	.	.	4.64	3.61	0.40494	-0.124000	0.10571	-0.706000	0.07772	-1.157000	0.01417	0.002000	0.15269	0.001000	0.17328	0.002000	0.04165	0.0:0.1045:0.0:0.8955	7.253	0.25337	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	870.98	27	chr22	43129256	.	C	T	870.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=815;ExcessHet=0.0000;FS=1.926;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=0.624;SOR=0.984	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr22	43159279	43159279	C	T	exonic	TSPO	.	nonsynonymous SNV	TSPO:NM_000714:exon2:c.C41T:p.A14V	.	.	424	1092	6	0	0	6	0.00273973	.	.	717496	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.34	T	0.004	B	0.003	B	0.284	N	1.000	N	-0.105	N	1.01	T	-1.046	T	0.033	T	0.028	0.320	5.737	-1.96	-0.720	0.230	10.984	0.076	.	0.0017	0.000998403	0.0035	0	0	0	0	0.0050	0.0132	0.0032	0.0011966	185	154602	rs187866832	0.0025	0.0025	0.0025	0.0025	0.0029	0.0024	0.0024	0.0028	0.0027	0.0006	0.0007	0.0001	5.497e-05	0.0005	0.0012	0.0029	0.0017	0.0029	0.0015	0.0015	0.0016	0.0014	0.0025	0.0014	0.0013	0.0022	0.0021	0.0007	0	0.0011	0	0.0002	9.409e-05	0	0.0025	0.0014	0.0017	0.328	0.14645	T	0.347	0.17640	T	0.004	0.12183	B	0.003	0.08700	B	0.283718	0.14897	N	0.660844	1	0.08975	N	.	.	.	1.01	0.41058	T	1.42	0.00846	N	0.074	0.04790	-1.0458	0.15592	T	0.033	0.14117	T	10	0.009313464	0.00210	T	.	.	.	0.076	0.22200	.	.	0.0482279557977	0.04254	0.10879833319805587	0.10808	0.214014092029	0.23928	0.367172718048	0.20426	T	0.003149	0.02556	T	-0.684004	0.00045	T	-0.75709	0.03218	T	0.00154720271831872	0.00016	T	0.614539	0.24845	T	0.02948194	0.02450	0.055886913	0.09886	0.02948194	0.02450	0.055886913	0.09885	-3.875	0.21928	T	.	.	0.069	0.05535	B	.;.;.;.	.;.;.;.	0.425206	0.07959	4.668	0.92481344580476355	0.21912	0.02152	0.06328	N	AEFBCI	0.028731	0.02587	N	-1.40272070203532	0.02615	0.1157139	-1.37777533153695	0.03490	0.1629015	0.844556457785788	0.24929	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.28	-1.96	0.07113	0.166000	0.16400	-2.744000	0.03406	-1.619000	0.00871	0.558000	0.27409	0.000000	0.08366	0.114000	0.18915	0.0:0.1833:0.0:0.8167	10.984	0.46727	819	0.41190	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	478.98	34	chr22	43159279	.	C	T	478.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.083;DP=719;ExcessHet=0.0000;FS=1.130;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.89;ReadPosRankSum=0.764;SOR=0.892	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1076	20	0	1	0
chr22	43159360	43159360	C	G	exonic	TSPO	.	nonsynonymous SNV	TSPO:NM_000714:exon2:c.C122G:p.S41W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.084	B	0.078	B	0.000	N	1.000	D	1.485	L	0.79	T	-0.966	T	0.122	T	0.44	1.284	10.20	3.15	0.973	5.521	13.965	0.160	0.0447408954227	.	.	6.466e-05	0	0	0	0	0	0.0066	0	6.5e-06	1	154602	rs750994845	2.153e-06	2.052e-06	0	4.366e-06	3.806e-05	5.7e-07	1.6e-07	1.011e-05	4.8e-06	0	0	0	0	0	0	0	0	3.806e-05	6.571e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.075	0.34444	T	0.079	0.42086	T	0.084	0.24799	B	0.078	0.28627	B	0.000476	0.44119	N	0.204155	1	0.81001	D	.	.	.	0.79	0.49068	T	-3.76	0.71276	D	0.336	0.37820	-0.9658	0.38053	T	0.122	0.42399	T	10	0.43339592	0.57637	T	0.044741	0.61641	D	0.160	0.41473	0.534	0.64293	0.364730456448	0.36084	0.5411575182425582	0.54040	0.419516345353	0.42505	0.540383219719	0.44500	T	0.052278	0.29116	T	-0.170877	0.25100	T	-0.352779	0.38886	T	0.485880255699158	0.32113	T	0.909609	0.68017	D	0.40002418	0.60734	0.36301994	0.61696	0.40002418	0.60735	0.36301994	0.61696	-4.837	0.35019	T	.	.	0.134	0.29172	B	.;.;.;.	.;.;.;.	2.987286	0.39869	21.1	0.96412986838680548	0.29730	0.87947	0.47667	D	AEFBCI	0.740241	0.68455	D	-0.323075593074233	0.28274	1.558135	-0.294654726661163	0.28275	1.575124	0.999987128324607	0.51787	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.18	3.15	0.35301	5.374000	0.65920	3.988000	0.40963	0.581000	0.30040	0.717000	0.28791	0.414000	0.24773	0.261000	0.23543	0.0:0.847:0.153:0.0	13.965	0.63712	819	0.41190	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	641.98	34	chr22	43159360	.	C	G	641.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.137;DP=768;ExcessHet=0.0000;FS=1.075;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=-4.760e-01;SOR=0.467	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1076	20	0	1	0
chr22	43576434	43576434	C	T	exonic	EFCAB6	.	nonsynonymous SNV	EFCAB6:NM_198856:exon24:c.G2827A:p.G943R	.	.	.	.	.	.	.	.	.	.	.	3241575	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.6	T	1.0	D	0.983	D	0.009	N	1.000	D	0.705	N	3.23	T	-1.017	T	0.030	T	0.286	0.178	4.958	5.19	2.705	1.132	8.980	0.063	0.00625750185108	7.7e-05	.	0.0003	9.707e-05	0.0006	0.0001	0	9.017e-05	0	0.0010	0.000207	32	154602	rs372687373	0.0001	0.0001	0.0001	0.0002	0.0009	0.0001	0.0001	0.0008	0.0007	6.175e-05	0.0003	0.0009	0.0006	0	0.0005	4.696e-05	0.0002	0.0009	0.0001	0.0001	0.0001	0.0001	0.0008	8.173e-05	6.728e-05	0.0003	0.0002	0	0	0.0003	0.0012	0.0008	0	0.0034	4.411e-05	0	0.0006	0.636	0.05061	T	0.261	0.22962	T	1.0	0.90584	D	0.983	0.75793	D	0.008872	0.30626	N	0.302794	0.51359	0.31627	N	1.68	0.43186	L	3.23	0.06931	T	1.13	0.01182	N	0.459	0.49602	-1.0170	0.24690	T	0.030	0.12979	T	10	0.043590754	0.03225	T	0.006258	0.16435	T	0.063	0.18251	0.439	0.49321	0.391930172978	0.38808	0.36743458269758206	0.36657	0.383326737611	0.39658	0.478385567665	0.35834	T	0.001399	0.00865	T	-0.516433	0.00461	T	-0.570945	0.15363	T	0.0566344894468784	0.06628	T	0.720328	0.33319	T	0.08971951	0.20972	0.11420353	0.27566	0.08971951	0.20972	0.11420353	0.27566	-5.775	0.44400	T	.	.	0.428	0.61103	A	.;.	.;.	3.088672	0.41578	21.4	0.4206866361836023	0.03076	0.21245	0.21333	N	AEFBI	0.192912	0.32005	N	-0.00777551170539183	0.41503	2.483618	0.0416340122753889	0.41669	2.507319	0.0179175605916179	0.13003	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.19	5.19	0.71428	1.170000	0.31493	5.687000	0.49320	0.599000	0.40250	0.068000	0.22015	0.993000	0.31925	0.983000	0.59808	0.1496:0.6205:0.2299:0.0	8.980	0.35123	856	0.34373	.;EF-hand domain|EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1159.98	38	chr22	43576434	.	C	T	1159.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.258;DP=812;ExcessHet=0.0000;FS=0.679;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.51;ReadPosRankSum=-1.251e+00;SOR=0.771	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1392	20	0	1	0
chr22	43668979	43668979	T	C	exonic	EFCAB6	.	nonsynonymous SNV	EFCAB6:NM_198856:exon14:c.A1251G:p.I417M	.	.	432	1082	8	0	0	8	0.00368324	.	.	2778107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.58	T	0.005	B	0.021	B	0.385	N	1.000	N	-0.14	N	1.0	T	-1.034	T	0.034	T	0.055	-0.727	0.887	-9.94	-4.009	-3.423	0.061	0.071	0.00135067105522	0.0009	0.000399361	0.0003	0.0022	0	0	0	0.0001	0	6.057e-05	0.0002199	34	154602	rs145207977	0.0001	0.0001	0.0001	0.0001	0.0024	0.0001	9.973e-05	0.0020	0.0019	0.0024	0.0002	0	0	0	0.0007	4.948e-05	0.0002	0.0002	0.0005	0.0005	0.0004	0.0006	0.0017	0.0004	0.0004	0.0013	0.0012	0.0017	0	0.0001	0	0	0	0.0034	2.939e-05	0	0	0.28	0.17821	T	0.321	0.19073	T	0.005	0.12996	B	0.021	0.19346	B	0.385040	0.04443	N	1.367690	1	0.08975	N	0.09	0.08384	N	1.0	0.41392	T	-0.58	0.17417	N	0.17	0.18103	-1.0338	0.19236	T	0.034	0.14509	T	10	0.0091484785	0.00207	T	0.001351	0.01936	T	0.071	0.20720	.	.	0.206339911435	0.20273	0.15748144635412276	0.15669	0.0553457390412	0.06125	0.261881053448	0.05117	T	0.002625	0.02014	T	-0.698719	0.00037	T	-0.781986	0.02394	T	0.013556022078353	0.00249	T	0.380662	0.09189	T	0.060081076	0.12286	0.04823514	0.07123	0.060081076	0.12285	0.04823514	0.07122	-4.503	0.35633	T	.	.	0.062	0.04041	B	.;.	.;.	-1.480321	0.00307	0.005	0.087601175916635202	0.00075	0.00660	0.02859	N	AEFI	0.060162	0.11414	N	-2.20717203241649	0.00074	0.003162222	-2.30085149022259	0.00066	0.002902564	0.999992603108497	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.97	-9.94	0.00371	-2.825000	0.00815	-5.106000	0.01847	-0.126000	0.13398	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.307:0.1844:0.2234:0.2852	0.061	0.00014	923	0.18507	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1185.98	33	chr22	43668979	.	T	C	1185.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=772;ExcessHet=0.0000;FS=2.848;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=0.031;SOR=1.022	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,977	20	0	1	0
chr22	43669029	43669029	G	C	exonic	EFCAB6	.	nonsynonymous SNV	EFCAB6:NM_198856:exon14:c.C1201G:p.Q401E	.	.	435	1064	21	2	0	25	0.0116117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.102	B	0.03	B	0.359	N	1.000	D	2.095	M	1.04	T	-1.048	T	0.108	T	0.124	0.124	4.668	3.94	1.296	2.206	10.540	0.088	0.00600643665542	0.0015	0.00119808	0.0021	0.0006	0.0011	0	0	0.0019	0.0044	0.0068	0.0019599	303	154602	rs142603983	0.0017	0.0017	0.0014	0.0019	0.0096	0.0016	0.0016	0.0075	0.0068	0.0003	0.0011	0.0040	5.073e-05	1.877e-05	0.0096	0.0013	0.0019	0.0075	0.0013	0.0013	0.0013	0.0012	0.0060	0.0011	0.0011	0.0043	0.0037	0.0004	0	0.0007	0.0035	0.0002	0	0.0034	0.0018	0.0009	0.0060	0.43	0.09543	T	0.022	0.57587	D	0.102	0.25827	B	0.03	0.21741	B	0.359028	0.13698	N	0.695852	0.987798	0.24480	N	2.455	0.71248	M	1.04	0.40218	T	-0.84	0.22944	N	0.259	0.36884	-1.0483	0.14875	T	0.108	0.39221	T	10	0.0059239566	0.00133	T	0.006006	0.15668	T	0.088	0.25558	.	.	0.588714669503	0.58547	0.22755316562618697	0.22670	0.117441942622	0.13232	0.344939410686	0.17173	T	0.003435	0.02839	T	-0.558226	0.00260	T	-0.570764	0.15379	T	0.013569507946063	0.00250	T	0.679332	0.28809	T	0.096601725	0.22757	0.089775704	0.21013	0.096601725	0.22756	0.089775704	0.21012	-5.902	0.45453	T	.	.	0.085	0.10111	B	.;.	.;.	2.170900	0.27664	17.54	0.81263561073229329	0.13599	0.82853	0.42026	D	AEFI	0.171727	0.29872	N	-0.29548272239765	0.29323	1.625038	-0.235397199423039	0.30278	1.703392	3.41392403691261E-4	0.06626	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.97	3.94	0.44807	1.815000	0.38620	4.647000	0.44180	0.676000	0.76740	0.957000	0.33433	1.000000	0.68203	0.763000	0.36255	0.0:0.0:0.8073:0.1927	10.540	0.44215	923	0.18507	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	824.98	75	chr22	43669029	.	G	C	824.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.730e-01;DP=778;ExcessHet=0.0000;FS=3.247;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.00;ReadPosRankSum=-6.270e-01;SOR=0.358	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,977	20	0	1	0
chr22	43687497	43687497	A	-	exonic	EFCAB6	.	frameshift deletion	EFCAB6:NM_198856:exon9:c.660delT:p.S220Rfs*5	.	.	460	1060	2	0	0	2	0.000942507	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1332176428	0	6.842e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4081.07	51	chr22	43687496	.	TA	T	4081.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.45;DP=1300;ExcessHet=0.1072;FS=0.455;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.88;ReadPosRankSum=-5.510e-01;SOR=0.728	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	19	0	2	0
chr22	43884304	43884304	G	C	exonic	PNPLA5	.	nonsynonymous SNV	PNPLA5:NM_001177675:exon5:c.C649G:p.R217G	.	.	429	1079	1	0	13	14	0.000463177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.826	P	0.285	B	0.744	N	1.000	N	1.53	L	1.65	T	-1.049	T	0.061	T	0.407	0.798	8.200	1.83	0.431	0.770	6.151	0.076	0.0105007851262	0.0015	0.00179712	0.0014	0.0034	0.0012	0	0	0.0015	0.0023	0.0011	0.0012484	193	154602	rs148896213	0.0011	0.0011	0.0010	0.0011	0.0305	0.0010	0.0010	0.0268	0.0253	0.0039	0.0014	0.0002	0	0.0004	0.0305	0.0009	0.0023	0.0010	0.0018	0.0018	0.0018	0.0018	0.0034	0.0016	0.0015	0.0029	0.0027	0.0034	0	0.0012	0.0003	0	0.0005	0.0340	0.0012	0.0033	0.0008	0.405	0.46910	T	0.196	0.58089	T	0.249	0.41275	B	0.081	0.40506	B	0.743806	0.06444	N	1.192680	1	0.08975	N	1.855	0.49169	L	1.41	0.44461	T	-3.6	0.69950	D	0.338	0.37923	-1.0486	0.14790	T	0.061	0.25419	T	10	0.004383564	0.00089	T	0.010501	0.27109	T	0.076	0.22200	.	.	0.341460817117	0.33762	0.28422708678200204	0.28335	0.219144547618	0.24453	0.274892568588	0.06791	T	0.043256	0.26443	T	-0.462846	0.00943	T	-0.439096	0.28910	T	0.0368602888373502	0.03132	T	0.545645	0.18668	T	0.09420593	0.22145	0.12430613	0.29963	0.09420593	0.22144	0.12430613	0.29962	-4.071	0.24861	T	.	.	0.077	0.16010	B	.;.;.;.;.	.;.;.;.;.	1.209471	0.16023	12.27	0.87138616959113779	0.17015	0.10227	0.15792	N	AEFDBCI	0.059976	0.11365	N	-0.715946997227853	0.15574	0.7860263	-0.827677575654239	0.13825	0.719296	0.825105346048427	0.24593	0.646311	0.45356	0	0.491513	0.07743	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.01	1.83	0.24279	0.865000	0.27595	0.154000	0.15327	-0.161000	0.11593	0.003000	0.16062	0.000000	0.08366	0.089000	0.17737	0.2506:0.0:0.7494:0.0	6.151	0.19529	886	0.28090	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1757.08	36	chr22	43884304	.	G	C	1757.08	.	AC=2;AF=0.048;AN=42;DP=773;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.80;SOR=1.197	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1132	20	1	0	0
chr22	44189126	44189126	C	T	exonic	PARVG	.	nonsynonymous SNV	PARVG:NM_001137605:exon6:c.C260T:p.A87V	.	.	423	1083	16	0	0	16	0.00733272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.894	P	0.246	B	0.039	N	1.000	N	0.69	N	-3.58	D	-0.112	T	0.604	D	0.176	2.231	13.42	-0.33	0.069	0.319	10.854	0.288	.	0.0005	0.00259585	0.0027	0.0005	0.0003	0.0001	0	0.0005	0.0034	0.0167	0.0022509	348	154602	rs138075453	0.0015	0.0015	0.0010	0.0020	0.0181	0.0014	0.0014	0.0174	0.0170	8.961e-05	6.708e-05	0	2.519e-05	0.0002	0.0031	0.0004	0.0013	0.0181	0.0009	0.0009	0.0007	0.0011	0.0137	0.0008	0.0007	0.0110	0.0101	0.0002	0	6.532e-05	0	0	9.413e-05	0.0034	0.0008	0	0.0137	0.002	0.72154	D	0.048	0.48594	D	0.894	0.49185	P	0.246	0.38861	B	0.038551	0.24273	N	0.404315	1	0.08975	N	1.39	0.34934	L	-3.58	0.94940	D	-2.39	0.52612	N	0.17	0.26957	-0.1117	0.79828	T	0.604	0.85949	D	10	0.004735917	0.00100	T	.	.	.	0.288	0.60691	.	.	0.879880329404	0.87870	0.20534219464514428	0.20451	0.156801814406	0.17703	0.262609064579	0.05205	T	0.603003	0.87304	D	-0.302316	0.08443	T	-0.192752	0.55332	T	0.027003722770828	0.01544	T	0.716728	0.32905	T	0.12633264	0.29593	0.15091646	0.35572	0.12633264	0.29593	0.15091646	0.35571	-6.781	0.52418	T	.	.	0.120	0.25100	B	.;.;.	.;.;.	2.612734	0.33937	19.49	0.98838391747539256	0.47085	0.05575	0.11475	N	AEFDBHCI	0.134812	0.25494	N	-0.537411678019612	0.20879	1.104028	-0.644544555650668	0.18354	0.9801407	0.99999881027357	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.86	-0.33	0.12054	0.334000	0.19529	0.959000	0.22978	0.599000	0.40250	0.001000	0.13787	0.375000	0.24588	0.338000	0.25386	0.1204:0.2315:0.6481:0.0	10.854	0.45995	844	0.36711	Calponin homology domain|Calponin homology domain;Calponin homology domain|Calponin homology domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1194.98	34	chr22	44189126	.	C	T	1194.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.910;DP=800;ExcessHet=0.0000;FS=3.619;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.38;ReadPosRankSum=0.109;SOR=0.959	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1274	20	0	1	0
chr22	44786481	44786481	C	T	exonic	PRR5-ARHGAP8	.	nonsynonymous SNV	PRR5-ARHGAP8:NM_181334:exon5:c.C347T:p.A116V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.926	P	0.177	B	0.001	D	1.000	N	1.79	L	2.27	T	-1.003	T	0.086	T	0.224	2.645	14.80	-7.04	-2.085	-1.296	2.564	0.025	0.00717840651347	0.0025	0.000798722	0.0024	0.0029	0.0024	0	0.0003	0.0034	0.0019	8.843e-05	0.00152	235	154602	rs192851961	0.0030	0.0030	0.0031	0.0028	0.0036	0.0029	0.0029	0.0035	0.0035	0.0013	0.0019	0.0010	2.54e-05	0.0002	0	0.0036	0.0031	1.173e-05	0.0020	0.0020	0.0021	0.0019	0.0031	0.0019	0.0018	0.0027	0.0026	0.0017	0	0.0016	0.0006	0	0.0002	0	0.0031	0.0024	0	0.433	0.16903	T	0.21	0.26714	T	0.004	0.12183	B	0.001	0.04355	B	0.000748	0.42006	D	0.000000	1	0.08975	N	.	.	.	2.27	0.18570	T	-0.69	0.19720	N	0.184	0.19995	-1.0034	0.28933	T	0.086	0.33410	T	10	0.0071768463	0.00163	T	0.007178	0.19034	T	0.035	0.08770	.	.	0.0611884634855	0.05136	0.3761150027901493	0.37526	.	.	0.482897698879	0.36456	T	.	.	.	-0.626273	0.00101	T	-0.671421	0.07517	T	0.0277044039338619	0.01645	T	0.39866	0.10107	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.30370	B	.;.	.;.	0.156657	0.05477	1.946	0.97540517339266364	0.34512	0.00895	0.03516	N	AEFBI	0.038238	0.05383	N	-1.12069309565014	0.06275	0.2884592	-1.37142379461497	0.03560	0.1662913	0.939816795213236	0.27404	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	3.52	-7.04	0.01423	-1.755000	0.01913	-0.641000	0.08077	-2.381000	0.00300	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1718:0.5392:0.0888:0.2003	2.564	0.04488	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	437.98	31	chr22	44786481	.	C	T	437.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.692;DP=720;ExcessHet=0.0000;FS=1.444;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=-8.100e-02;SOR=0.437	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1404	20	0	1	0
chr22	44822459	44822459	G	A	exonic	ARHGAP8;PRR5-ARHGAP8	.	nonsynonymous SNV	ARHGAP8:NM_001198726:exon6:c.G475A:p.E159K	.	.	429	1081	12	0	0	12	0.00551978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.999	D	0.936	D	0.005	U	0.995	D	0.895	L	-0.01	T	-0.777	T	0.205	T	0.614	2.529	14.42	4.26	2.181	5.828	14.633	0.277	0.0450358433204	0.0058	0.00219649	0.0049	0.0016	0.0034	0	0.0014	0.0072	0.0055	0.0023	0.0050452	780	154602	rs55849456	0.0069	0.0068	0.0071	0.0068	0.0078	0.0068	0.0068	0.0076	0.0076	0.0011	0.0048	0.0200	2.811e-05	0.0008	0.0028	0.0078	0.0066	0.0019	0.0048	0.0048	0.0055	0.0039	0.0071	0.0045	0.0044	0.0066	0.0064	0.0019	0	0.0050	0.0170	0	0.0004	0	0.0071	0.0071	0.0017	0.144	0.28026	T	0.603	0.08245	T	0.782	0.77913	P	0.174	0.67150	B	0.005141	0.33053	U	0.000000	0.995347	0.42649	D	2.2	0.62015	M	-0.01	0.62762	T	-1.97	0.47683	N	0.703	0.70702	-0.7770	0.56470	T	0.205	0.56362	T	10	0.010434717	0.00232	T	0.045036	0.61784	D	0.277	0.59375	.	.	0.436025050644	0.43221	0.5785260327497784	0.57781	.	.	0.46615204215	0.34153	T	0.060243	0.31333	T	-0.290585	0.09578	T	-0.180786	0.56451	T	0.0259432779380922	0.01398	T	0.90111	0.87368	D	0.088467605	0.20639	0.1226411	0.29582	0.088467605	0.20638	0.1226411	0.29581	-10.979	0.79543	D	.	.	0.174	0.49778	B	.;.;.;.;.	.;.;.;.;.	4.671024	0.74647	26.2	0.99799208558287067	0.88372	0.88274	0.48128	D	AEFBCI	0.657230	0.62893	D	-0.0359265459700817	0.40234	2.385867	-0.0521224228508628	0.37399	2.189186	0.999838454879708	0.43792	0.732398	0.92422	0	0.547309	0.14657	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	4.26	4.26	0.49832	4.957000	0.63358	5.999000	0.52457	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.021000	0.11733	0.0:0.0:1.0:0.0	14.633	0.68272	988	0.01987	CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain;CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain;CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1118.98	40	chr22	44822459	.	G	A	1118.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.480e-01;DP=900;ExcessHet=0.0000;FS=1.775;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.01;ReadPosRankSum=-7.260e-01;SOR=0.963	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,102,1530	20	0	1	0
chr22	45205272	45205272	T	C	exonic	KIAA0930	.	nonsynonymous SNV	KIAA0930:NM_001009880:exon5:c.A461G:p.E154G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.991	D	0.982	D	0.000	D	1.000	D	1.81	L	.	.	-0.249	T	0.374	T	0.784	3.579	18.23	4.39	1.760	7.778	13.925	0.459	0.0421084660524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.44694	D	0.08	0.42614	T	0.248	0.31148	B	0.112	0.31615	B	0.000002	0.62929	D	0.097389	1	0.81001	D	1.995	0.54099	M	.	.	.	-5.16	0.84882	D	0.819	0.81857	-0.2487	0.76395	T	0.374	0.73257	T	9	0.7402502	0.74906	D	0.042108	0.60287	D	0.459	0.75687	0.583	0.70990	0.0934897674506	0.08844	0.3406560625478182	0.33978	1.0122793452	0.74820	0.791417241096	0.80658	T	0.310622	0.68257	T	0.237128	0.77390	D	0.102842	0.77096	D	0.99134236574173	0.81628	D	0.940906	0.88325	D	0.46017575	0.64681	0.4798742	0.69875	0.46017575	0.64682	0.4798742	0.69875	-4.328	0.28914	T	.	.	0.441	0.67744	A	.;.;.;.;.;.	.;.;.;.;.;.	5.151041	0.86272	28.9	0.99841852299815859	0.92229	0.97508	0.75205	D	AEFBI	0.959716	0.98018	D	0.322131170296415	0.57287	3.895	0.371963463967289	0.59842	4.16561	0.999999999577547	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.39	4.39	0.52211	7.874000	0.85582	7.692000	0.65839	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:0.0:1.0	13.925	0.63461	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1181.98	36	chr22	45205272	.	T	C	1181.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.176;DP=796;ExcessHet=0.0000;FS=1.564;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.94;ReadPosRankSum=-2.910e-01;SOR=0.904	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr22	45212334	45212334	G	A	exonic	KIAA0930	.	stopgain	KIAA0930:NM_015264:exon1:c.C10T:p.Q4X,	.	.	428	1091	3	0	0	3	0.001373	.	.	2819660	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.38	T	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	2.919	15.73	-1.47	-0.192	-0.788	4.865	.	.	0.0029	0.00199681	0.0038	0.0008	0.0014	0	0.0024	0.0059	0.0034	0.0020	0.0036481	564	154602	rs150665432	0.0039	0.0039	0.0038	0.0040	0.0052	0.0038	0.0038	0.0042	0.0042	0.0006	0.0021	0.0057	0	0.0039	0.0052	0.0043	0.0033	0.0024	0.0031	0.0031	0.0034	0.0029	0.0049	0.0029	0.0028	0.0045	0.0043	0.0008	0.0143	0.0022	0.0043	0	0.0019	0	0.0049	0.0052	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.029	0.05929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.37721	0.03244	T	-0.313108	0.43325	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.	High;.	-0.192803	0.03128	0.501	0.97273141113812711	0.33144	0.06331	0.12329	N	ALL	0.041809	0.06406	N	-0.264687512630437	0.30521	1.702629	-0.700882714057974	0.16939	0.8984094	0.999999999998426	0.74766	0.693307	0.56506	0	0.379588	0.06130	0	0.658952	0.52864	0	0.372554	0.06265	0	.	.	2.41	-1.47	0.08312	-0.757000	0.04877	-0.195000	0.11000	-0.212000	0.08331	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.1506:0.3861:0.4633:0.0	4.865	0.12962	982	0.03397	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	519.98	40	chr22	45212334	.	G	A	519.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.400e-02;DP=811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.09;ReadPosRankSum=-8.390e-01;SOR=0.634	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1398	20	0	1	0
chr22	45289117	45289117	G	A	exonic	UPK3A	.	stopgain	UPK3A:NM_006953:exon4:c.G545A:p.W182X,	.	.	0	1519	3	0	0	3	0.000986518	.	.	338429	not_provided|Renal_hypodysplasia/aplasia_1	MedGen:C3661900|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830,Orphanet:411709	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.001	D	1.000	D	.	.	.	.	.	.	.	.	.	4.994	29.3	4.82	2.241	4.397	13.490	.	.	0.0002	0.00658946	0.0054	9.792e-05	0.0075	0.0234	0.0310	0.0021	0.0090	0.0007	0.0046118	713	154602	rs147609981	0.0022	0.0022	0.0023	0.0021	0.0217	0.0021	0.0021	0.0205	0.0200	2.987e-05	0.0077	0	0.0217	0.0272	0	0.0003	0.0027	0.0011	0.0039	0.0040	0.0027	0.0052	0.0255	0.0037	0.0036	0.0220	0.0206	9.625e-05	0	0.0061	0	0.0255	0.0286	0	0.0008	0.0043	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.000689	0.42383	D	0.168090	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.851	0.84713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233259	0.77027	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	10.526637	0.99776	48	0.99667700016470107	0.78394	0.83062	0.42212	D	AEFDBI	0.089115	0.18063	N	0.753025657984188	0.83101	7.930153	0.608318267343426	0.75541	6.329163	0.999915265968544	0.45857	0.554377	0.28877	0	0.491513	0.07743	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.82	4.82	0.61641	4.888000	0.62855	11.495000	0.92942	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.564000	0.30507	0.0:0.0:1.0:0.0	13.490	0.60843	964	0.07719	.	.	.	.	.	rs147609981	Likely benign	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1415.98	38	chr22	45289117	.	G	A	1415.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.030e+00;DP=786;ExcessHet=0.0000;FS=1.900;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.63;ReadPosRankSum=-2.810e-01;SOR=0.436	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,38:76:99:0|1:45289117_G_A:1430,0,1481:45289117	20	0	1	0
chr22	45432322	45432322	C	A	exonic	RIBC2	.	nonsynonymous SNV	RIBC2:NM_015653:exon7:c.C1109A:p.T370K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.981	D	0.002	N	0.991	N	.	.	1.81	T	-0.918	T	0.165	T	0.761	2.767	15.21	5.64	2.657	2.890	16.618	0.265	0.0147704623462	.	.	2.484e-05	0	0	0	0	1.506e-05	0	0.0001	1.94e-05	3	154602	rs202198762	7.594e-06	1.231e-05	8.25e-06	6.932e-06	9.406e-05	4.08e-06	2.98e-06	4.635e-05	3.413e-05	0	0	0	0	0	0	1.816e-06	1.668e-05	9.406e-05	1.32e-05	1.316e-05	0	2.707e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	.	.	.	0.003	0.76473	D	.	.	.	.	.	.	0.001837	0.37892	N	0.222293	0.990822	0.24119	N	.	.	.	.	.	.	.	.	.	0.654	0.66443	-0.9180	0.45824	T	0.165	0.50307	T	9	0.70628446	0.72758	D	0.01477	0.35101	T	.	.	.	.	0.588411211809	0.58516	0.45462708548201636	0.45380	.	.	0.417950719595	0.27556	T	0.179507	0.53052	T	0.00500181	0.52343	T	0.00607683	0.70729	D	0.949195981025696	0.63060	D	0.656534	0.26618	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.36455	B	.	.	3.727723	0.53306	23.3	0.99104014940173646	0.52546	0.41056	0.26573	N	AEFDBHI	0.221925	0.34649	N	0.296781752320508	0.55986	3.762729	0.192675690980069	0.49443	3.147584	0.999999071042025	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.64	5.64	0.86480	3.327000	0.51757	4.544000	0.43776	0.580000	0.29708	0.814000	0.29906	0.409000	0.24749	0.212000	0.22240	0.0:1.0:0.0:0.0	16.618	0.84775	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1486.98	40	chr22	45432322	.	C	A	1486.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=896;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.01;ReadPosRankSum=0.703;SOR=0.723	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1229	20	0	1	0
chr22	45577061	45577061	G	T	exonic	FBLN1	.	nonsynonymous SNV	FBLN1:NM_006486:exon16:c.G1925T:p.R642L,	Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, Autosomal dominant	.	0	1504	18	0	0	18	0.00594845	.	.	268571	FBLN1-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.858	P	0.417	B	0.045	N	1.000	D	0.55	N	-1.68	D	-0.253	T	0.376	T	0.71	4.225	22.0	4.54	2.241	5.896	14.574	0.551	0.046547310717	0.0018	0.000399361	0.0017	9.614e-05	0.0027	0	0.0006	0.0023	0.0044	0.0009	0.0015782	244	154602	rs143377110	0.0013	0.0013	0.0012	0.0014	0.0186	0.0013	0.0012	0.0157	0.0146	0.0009	0.0021	0.0127	0	0.0004	0.0186	0.0010	0.0023	0.0010	0.0017	0.0017	0.0014	0.0021	0.0031	0.0015	0.0015	0.0024	0.0022	9.629e-05	0.0505	0.0031	0.0167	0.0002	0.0003	0.0170	0.0013	0.0014	0.0010	0.005	0.63226	D	0.017	0.92824	D	0.858	0.47274	P	0.417	0.44992	B	0.044992	0.23582	N	0.435732	0.998021	0.44427	D	1.735	0.44892	L	-1.78	0.83737	D	-3.19	0.64593	D	0.643	0.65501	-0.2534	0.76268	T	0.376	0.73401	T	10	0.011184275	0.00246	T	0.046547	0.62508	D	0.551	0.81427	.	.	0.815631999301	0.81389	0.7936927725727705	0.79322	1.0843650263	0.77233	0.461398810148	0.33503	T	0.703124	0.91469	D	-0.120787	0.32995	T	0.047863	0.73442	D	0.0553535736537284	0.06416	T	0.871513	0.61048	D	0.19976777	0.41927	0.21708763	0.46361	0.19976777	0.41927	0.21708763	0.46360	-6.885	0.53188	T	.	.	0.219	0.79019	B	.;.	.;.	3.949312	0.57843	23.9	0.99842865535277603	0.92316	0.89333	0.49734	D	AEFBI	0.826185	0.74572	D	0.26061285939923	0.54165	3.582872	0.334114296150176	0.57554	3.921732	0.99953945099933	0.40238	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.54	4.54	0.55220	6.533000	0.73737	6.433000	0.55637	0.676000	0.76740	1.000000	0.71638	0.998000	0.33993	0.974000	0.55675	0.0:0.0:1.0:0.0	14.574	0.67825	889	0.27310	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2111.98	34	chr22	45577061	.	G	T	2111.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.010e+00;DP=885;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=-1.077e+00;SOR=0.694	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1294	20	0	1	0
chr22	46256619	46256619	T	A	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.A6704T:p.Y2235F,	.	.	426	1072	23	1	0	25	0.011526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.125	B	0.028	B	0.298	N	1.000	N	0.255	N	1.31	T	-1.014	T	0.044	T	0.184	0.653	7.502	3.38	0.445	0.448	9.029	0.033	0.00352748671931	0.0022	0.00139776	0.0027	0.0009	0.0034	0	0.0026	0.0037	0.0055	0.0010	0.0025808	399	154602	rs145208153	0.0027	0.0027	0.0027	0.0028	0.0194	0.0026	0.0026	0.0165	0.0154	0.0013	0.0029	0.0013	0	0.0018	0.0194	0.0030	0.0032	0.0008	0.0025	0.0025	0.0024	0.0026	0.0037	0.0023	0.0022	0.0033	0.0032	0.0005	0.0044	0.0031	0.0017	0.0002	0.0025	0.0340	0.0037	0.0033	0.0006	0.363	0.11807	T	0.419	0.14158	T	0.125	0.26866	B	0.028	0.21332	B	0.297716	0.14654	N	0.651748	1	0.08975	N	1.29	0.32370	L	1.31	0.35405	T	-1.11	0.28703	N	0.097	0.07811	-1.0135	0.25816	T	0.044	0.19070	T	10	0.007076353	0.00161	T	0.003527	0.08031	T	0.033	0.08068	.	.	0.0954503805726	0.09146	0.21857502953955749	0.21773	.	.	0.386549502611	0.23182	T	0.20371	0.56227	T	-0.5695	0.00223	T	-0.58849	0.13797	T	0.00456023149037528	0.00049	T	0.646135	0.25753	T	0.06590596	0.14131	0.057479482	0.10455	0.06590596	0.14131	0.057479482	0.10454	-3.199	0.12468	T	.	.	0.100	0.17060	B	.	.	0.686749	0.10553	7.262	0.79649003285067921	0.12837	0.09470	0.15218	N	ALL	0.059044	0.11122	N	-1.05196031419686	0.07549	0.3510676	-0.975477687017799	0.10337	0.5200256	0.999999860432101	0.74766	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.530356	0.10902	0	.	.	5.56	3.38	0.37806	0.503000	0.22318	0.760000	0.21307	-0.847000	0.02749	0.006000	0.17386	0.009000	0.19889	0.319000	0.24947	0.3047:0.0:0.0:0.6953	9.029	0.35407	928	0.17405	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4966.11	35	chr22	46256619	.	T	A	4966.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.30;DP=1128;ExcessHet=0.1072;FS=4.063;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=1.14;SOR=0.457	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1452	19	0	2	0
chr22	46258347	46258347	C	T	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.G4976A:p.R1659K,	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.0	B	0.001	B	0.655	N	1.000	N	0.28	N	1.36	T	-1.029	T	0.031	T	0.02	0.640	7.437	-8.93	-1.928	-2.152	1.889	0.008	0.00309861398497	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1385757873	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.733	0.03776	T	0.918	0.02891	T	0.0	0.02946	B	0.001	0.04355	B	0.655380	0.05948	N	1.209470	1	0.08975	N	-0.335	0.03518	N	1.36	0.34452	T	-0.19	0.09965	N	0.016	0.00203	-1.0289	0.20811	T	0.031	0.13418	T	10	0.020137876	0.00459	T	0.003099	0.06726	T	0.008	0.00669	0.376	0.38994	0.0954503805726	0.09146	0.12004650037665156	0.11931	.	.	0.237354636192	0.02556	T	0.118205	0.43885	T	-0.429221	0.01498	T	-0.854322	0.00907	T	0.0507645816283648	0.05633	T	0.241076	0.03466	T	0.037378486	0.04780	0.04119034	0.04624	0.037378486	0.04780	0.04119034	0.04623	-2.863	0.08778	T	.	.	0.084	0.09772	B	.	.	-1.763800	0.00170	0.003	0.59819356294959658	0.06314	0.00987	0.03753	N	AEFBCI	0.027689	0.02306	N	-1.61959410718921	0.01170	0.05085068	-1.70953820795124	0.01096	0.04922815	0.99999983046492	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	4.95	-8.93	0.00663	-2.017000	0.01533	-3.037000	0.03118	-0.309000	0.06099	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.2673:0.3542:0.0904:0.288	1.889	0.03047	940	0.13648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	757.98	37	chr22	46258347	.	C	T	757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.720e-01;DP=1001;ExcessHet=0.0000;FS=0.996;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=0.208;SOR=0.936	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1361	20	0	1	0
chr22	46258711	46258711	T	C	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.A4612G:p.T1538A,	.	.	434	1083	5	0	0	5	0.00230309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	T	0.002	B	0.001	B	0.040	N	1.000	N	0	N	1.34	T	-0.994	T	0.044	T	0.036	0.503	6.729	-3.08	-0.640	-0.522	11.060	0.018	.	7.7e-05	0.00898562	0.0047	0	0.0003	0.0001	0	0	0.0022	0.0344	0.004172	645	154602	rs202165704	0.0020	0.0020	0.0011	0.0028	0.0311	0.0019	0.0019	0.0301	0.0297	0.0002	4.472e-05	0	0.0002	0	0.0005	1.169e-05	0.0025	0.0311	0.0012	0.0012	0.0006	0.0018	0.0356	0.0010	0.0010	0.0313	0.0296	0.0001	0	0	0	0	0	0	2.94e-05	0	0.0356	0.485	0.08115	T	0.761	0.04619	T	0.002	0.09854	B	0.001	0.04355	B	0.039910	0.01870	N	2.415630	1	0.08975	N	0	0.06538	N	1.34	0.34841	T	-0.15	0.09297	N	0.016	0.00203	-0.9940	0.31565	T	0.044	0.18906	T	10	0.0016500056	0.00020	T	.	.	.	0.018	0.03083	.	.	0.12205267543	0.11705	0.20266810763099014	0.20183	.	.	0.2238894701	0.01546	T	0.153485	0.49435	T	-0.735343	0.00022	T	-0.804671	0.01788	T	0.0182850710154796	0.00547	T	0.258174	0.04088	T	0.027410258	0.01928	0.036764603	0.03188	0.027410258	0.01928	0.036764603	0.03187	-3.763	0.20253	T	.	.	0.081	0.08176	B	.	.	-0.322818	0.02520	0.299	0.43493681200491102	0.03278	0.10005	0.15628	N	AEFBCI	0.052123	0.09273	N	-1.53503401441963	0.01624	0.07099663	-1.54259828590633	0.02027	0.09265867	0.996991236474864	0.35182	0.549168	0.22868	0	0.59043	0.45803	0	0.577349	0.28860	0	0.616125	0.45549	0	.	.	4.1	-3.08	0.05022	-0.523000	0.06316	0.602000	0.19937	-0.186000	0.09761	0.000000	0.06391	0.000000	0.08366	0.395000	0.26670	0.0:0.6484:0.0:0.3516	11.060	0.47162	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1907.98	37	chr22	46258711	.	T	C	1907.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=1037;ExcessHet=0.0000;FS=5.739;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=0.501;SOR=1.146	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1361	20	0	1	0
chr22	46258731	46258731	G	A	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.C4592T:p.P1531L,	.	.	435	1077	10	0	0	10	0.00462107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.645	P	0.058	B	0.000	N	1.000	N	1.445	L	1.29	T	-1.018	T	0.051	T	0.1	1.037	9.234	1.91	0.472	0.385	5.423	0.112	.	0.0027	0.00399361	0.0014	0.0084	0.0006	0.0001	0	0.0007	0.0022	0.0013	0.001326	205	154602	rs143126011	0.0006	0.0006	0.0006	0.0006	0.0116	0.0005	0.0005	0.0094	0.0086	0.0071	0.0012	0.0011	2.519e-05	0	0.0116	0.0002	0.0013	0.0011	0.0026	0.0026	0.0026	0.0026	0.0072	0.0024	0.0023	0.0065	0.0063	0.0072	0	0.0031	0.0023	0	0	0.0068	0.0004	0.0009	0.0010	0.031	0.45039	D	0.121	0.35840	T	0.645	0.40526	P	0.058	0.26451	B	0.000016	0.00162	N	1824.730000	1	0.08975	N	1.175	0.29870	L	1.29	0.35775	T	-1.53	0.37178	N	0.087	0.06454	-1.0181	0.24334	T	0.051	0.21806	T	10	0.0041632056	0.00082	T	.	.	.	0.112	0.31546	.	.	0.367803931526	0.36392	0.17621651183938522	0.17540	.	.	0.222104758024	0.01435	T	0.296042	0.66869	T	-0.615655	0.00117	T	-0.651432	0.08854	T	0.00551332672184065	0.00060	T	0.517348	0.16736	T	0.043422844	0.06765	0.041270975	0.04654	0.043422844	0.06765	0.041270975	0.04653	-3.539	0.16982	T	.	.	0.098	0.16319	B	.	.	0.862670	0.12349	8.890	0.49857143063403619	0.04283	0.24245	0.22333	N	AEFBCI	0.052398	0.09350	N	-0.835493953407956	0.12410	0.6047404	-0.939526110710773	0.11167	0.5672501	0.993835964777376	0.33375	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	4.06	1.91	0.24841	0.578000	0.23476	-5.894000	0.01561	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1126:0.2065:0.6809:0.0	5.423	0.15708	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1639.98	37	chr22	46258731	.	G	A	1639.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.76;DP=1037;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=0.250;SOR=0.741	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1361	20	0	1	0
chr22	46260654	46260654	T	C	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.A2669G:p.N890S,	.	.	430	1078	14	0	0	14	0.00645161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.888	P	0.453	P	0.899	N	1.000	N	1.78	L	1.45	T	-1.042	T	0.068	T	0.081	2.197	13.30	3.82	2.038	-0.022	3.496	0.105	0.00620148432293	0.0009	.	0.0010	0.0003	0.0008	0	0	0.0012	0.0055	0.0013	0.0008991	139	154602	rs111396160	0.0007	0.0007	0.0007	0.0007	0.0088	0.0007	0.0006	0.0069	0.0062	0.0001	0.0010	0.0032	0	0	0.0088	0.0006	0.0014	0.0011	0.0007	0.0007	0.0005	0.0009	0.0017	0.0006	0.0006	0.0008	0.0006	9.618e-05	0	0.0011	0.0032	0	0	0.0170	0.0008	0.0024	0.0017	0.299	0.14546	T	0.287	0.21210	T	0.888	0.48822	P	0.453	0.46205	P	0.898914	0.08634	N	0.952426	1	0.08975	N	1.83	0.48079	L	1.45	0.32482	T	-1.17	0.29933	N	0.151	0.15469	-1.0420	0.16711	T	0.068	0.28047	T	10	0.008417666	0.00191	T	0.006201	0.16259	T	0.105	0.29889	.	.	0.500303608228	0.49666	0.3647280924393358	0.36386	.	.	0.307574510574	0.11541	T	0.172933	0.52162	T	-0.603649	0.00139	T	-0.685428	0.06658	T	0.0159301213479079	0.00377	T	0.679032	0.28770	T	0.08637161	0.20074	0.043574844	0.05452	0.08637161	0.20074	0.043574844	0.05452	-4.174	0.26374	T	.	.	0.118	0.24020	B	.	.	2.601091	0.33759	19.44	0.95029208241972163	0.26023	0.04356	0.09925	N	AEFBI	0.044072	0.07047	N	-0.23892165727883	0.31547	1.770085	-0.306749803319362	0.27880	1.550248	0.998444885412644	0.36977	0.497415	0.19182	0	0.563428	0.19063	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	5.06	3.82	0.43153	-0.075000	0.11392	0.767000	0.21364	0.665000	0.62972	0.000000	0.06391	0.007000	0.19602	0.839000	0.39591	0.0:0.144:0.2269:0.6291	3.496	0.07217	939	0.14249	REJ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1854.98	37	chr22	46260654	.	T	C	1854.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=1066;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.61;ReadPosRankSum=0.128;SOR=0.648	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1361	20	0	1	0
chr22	46261984	46261984	T	C	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.A1339G:p.R447G,	.	.	430	1082	9	1	0	11	0.00505747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.425	B	0.136	B	0.468	N	1.000	N	1.39	L	-0.47	T	-0.849	T	0.222	T	0.305	2.023	12.72	5.18	2.082	1.251	14.520	0.202	0.0333634615805	0.0028	0.00159744	0.0029	0.0004	0.0042	0	0	0.0039	0.0033	0.0021	0.002859	442	154602	rs138648054	0.0032	0.0032	0.0032	0.0032	0.0050	0.0031	0.0031	0.0036	0.0031	0.0004	0.0021	0.0218	0	7.498e-05	0.0050	0.0031	0.0039	0.0028	0.0022	0.0022	0.0022	0.0022	0.0031	0.0020	0.0020	0.0028	0.0026	0.0005	0	0.0010	0.0222	0	0	0.0034	0.0031	0.0009	0.0019	0.064	0.36509	T	0.094	0.39645	T	0.425	0.35474	B	0.136	0.33270	B	0.467895	0.04909	N	1.329130	1	0.08975	N	1.59	0.40313	L	-0.47	0.70133	T	-1.21	0.30762	N	0.198	0.21839	-0.8487	0.52058	T	0.222	0.58550	T	10	0.012722552	0.00272	T	0.033363	0.54931	D	0.202	0.48754	.	.	0.594481630172	0.59126	0.5717681867786336	0.57104	.	.	0.224519848824	0.01587	T	0.26092	0.63235	T	-0.390525	0.02669	T	-0.336789	0.40707	T	0.0320356330174442	0.02311	T	0.466053	0.13673	T	0.18932635	0.40469	0.23438753	0.48654	0.18932635	0.40469	0.23438753	0.48653	-5.68	0.43515	T	.	.	0.181	0.39373	B	.	.	1.474486	0.18991	14.03	0.92803596724513682	0.22326	0.17380	0.19812	N	AEFBI	0.114120	0.22490	N	-0.493396017032117	0.22297	1.189566	-0.520587552811255	0.21595	1.168933	0.999999987850324	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	5.18	5.18	0.71140	1.321000	0.33283	0.370000	0.17667	0.665000	0.62972	0.004000	0.16614	0.000000	0.08366	0.068000	0.16518	0.0:0.0:0.0:1.0	14.520	0.67430	942	0.12992	PKD/REJ-like domain|REJ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1942.98	37	chr22	46261984	.	T	C	1942.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.368e+00;DP=1081;ExcessHet=0.0000;FS=0.553;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.85;ReadPosRankSum=-3.510e-01;SOR=0.784	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1361	20	0	1	0
chr22	46262307	46262307	A	G	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.T1016C:p.V339A,	.	.	433	1078	11	0	0	11	0.00507614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.979	D	0.629	P	0.444	N	1.000	N	2.19	M	-0.76	T	-0.739	T	0.304	T	0.287	2.081	12.92	3.75	0.794	1.476	6.313	0.276	.	0.0025	0.00419329	0.0013	0.0088	0.0007	0	0	0.0007	0.0022	0.0004	0.0012548	194	154602	rs113301350	0.0005	0.0005	0.0005	0.0005	0.0118	0.0005	0.0005	0.0095	0.0087	0.0079	0.0014	0.0011	0	0	0.0118	0.0002	0.0014	0.0004	0.0028	0.0028	0.0028	0.0027	0.0078	0.0025	0.0025	0.0071	0.0068	0.0078	0	0.0034	0.0023	0	0	0.0068	0.0004	0.0009	0.0004	0.193	0.20912	T	0.06	0.45744	T	0.979	0.59044	D	0.629	0.51727	P	0.443658	0.12595	N	0.702903	1	0.08975	N	1.91	0.51138	L	-0.76	0.73417	T	-1.23	0.31170	N	0.311	0.35088	-0.7390	0.58504	T	0.304	0.67464	T	10	0.008540809	0.00194	T	.	.	.	0.276	0.59253	.	.	0.498065138572	0.49443	0.5678703367868976	0.56715	.	.	0.361530005932	0.19609	T	0.375412	0.73901	T	-0.408927	0.02021	T	-0.353632	0.38790	T	0.0257246808521561	0.01369	T	0.635836	0.24975	T	0.10143025	0.23959	0.0934973	0.22087	0.10143025	0.23959	0.0934973	0.22086	-5.771	0.44321	T	.	.	0.218	0.44822	B	.	.	1.368724	0.17788	13.37	0.81356584832736334	0.13645	0.11278	0.16527	N	AEFBI	0.079206	0.15995	N	-0.239196898462056	0.31536	1.769352	-0.421255726066775	0.24375	1.33439	0.999946225620328	0.47345	0.59774	0.34471	0	0.596491	0.49125	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.78	3.75	0.42236	1.575000	0.36103	6.475000	0.55724	0.756000	0.94297	0.006000	0.17386	0.942000	0.28804	0.004000	0.06068	0.7535:0.1595:0.087:0.0	6.313	0.20382	944	0.12746	PKD/REJ-like domain|REJ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1453.98	37	chr22	46262307	.	A	G	1453.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.97;DP=942;ExcessHet=0.0000;FS=0.647;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=0.177;SOR=0.798	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1361	20	0	1	0
chr22	46262935	46262935	C	T	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.G388A:p.V130M,	.	.	438	1000	78	6	0	90	0.0430622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.002	B	0.0	B	.	.	1.000	N	0	N	1.04	T	-1.051	T	0.039	T	0.072	1.492	10.94	-5.51	-1.491	-1.306	0.949	0.024	0.00750178425146	.	0.00119808	0	.	.	.	.	.	.	.	0.0022284	58	26028	rs555983963	0.0073	0.0059	0.0070	0.0077	0.0364	0.0072	0.0071	0.0300	0.0276	0.0007	0.0055	0.0241	0	0.0008	0.0364	0.0069	0.0095	0.0298	0.0057	0.0056	0.0057	0.0056	0.0273	0.0053	0.0052	0.0235	0.0220	0.0012	0	0.0060	0.0207	0.0004	0.0002	0.0144	0.0070	0.0103	0.0273	0.106	0.29688	T	0.129	0.34837	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.04	0.40218	T	-0.34	0.12661	N	0.085	0.06190	-1.0511	0.14092	T	0.039	0.16849	T	9	0.003783077	0.00071	T	0.007502	0.19899	T	0.024	0.04979	.	.	0.144782658237	0.14088	0.1122755194000412	0.11156	.	.	0.766550064087	0.76907	T	0.129762	0.45823	T	-0.643599	0.00079	T	-0.690155	0.06380	T	0.0338523007500729	0.02613	T	0.283372	0.04986	T	0.029207122	0.02378	0.06186876	0.12017	0.029207122	0.02377	0.06186876	0.12016	-6.417	0.49642	T	.	.	0.315	0.54160	B	.	.	0.317506	0.06923	3.465	0.90352359249839387	0.19616	0.00728	0.03057	N	AEFDBCIJ	0.024055	0.01430	N	-1.43408809024655	0.02345	0.1034341	-1.54963673240453	0.01979	0.09036567	0.999999410641253	0.74766	0.437478	0.07067	0	0.59043	0.45803	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	2.75	-5.51	0.02366	-1.631000	0.02128	-0.250000	0.10515	0.514000	0.23422	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.1501:0.1918:0.2983:0.3599	0.949	0.01285	945	0.12563	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	389.69	9	chr22	46262935	.	C	T	389.69	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.00;DP=421;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0772;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=8.47;ReadPosRankSum=0.339;SOR=0.776	GT:AD:DP:GQ:PL	0/0:17,0:17:51:0,51,514	18	0	3	0
chr22	46262994	46262994	A	G	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.T329C:p.L110P,	.	.	436	1078	8	0	0	8	0.00369686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.0	B	0.0	B	0.004	N	1.000	N	0	N	0.95	T	-1.069	T	0.053	T	0.119	1.308	10.28	-0.751	-0.145	-0.003	3.162	0.038	.	.	0.00539137	0	0	0	0	.	0	0	0	0.0015368	40	26028	rs541646668	0.0004	0.0004	0.0004	0.0004	0.0108	0.0004	0.0004	0.0078	0.0074	0.0089	0.0011	0.0009	0	0	0.0108	0.0002	0.0012	0.0003	0.0034	0.0033	0.0033	0.0035	0.0113	0.0032	0.0031	0.0103	0.0100	0.0113	0	0.0036	0.0024	0	0	0.0070	0.0005	0.0015	0.0004	0.045	0.40832	D	0.088	0.40586	T	0.0	0.02946	B	0.0	0.01387	B	0.004339	0.01018	N	4.226530	1	0.08975	N	-0.345	0.03330	N	0.95	0.43279	T	0.89	0.01641	N	0.055	0.02658	-1.0685	0.09746	T	0.053	0.22423	T	10	0.0038192868	0.00072	T	.	.	.	0.038	0.09825	.	.	0.159798565429	0.15598	0.33723603990989004	0.33636	.	.	0.735805273056	0.72355	T	0.093834	0.39293	T	-0.655683	0.00067	T	-0.708505	0.05372	T	0.0205111959072796	0.00751	T	0.172683	0.01646	T	0.08744768	0.20363	0.1158423	0.27965	0.08744768	0.20363	0.1158423	0.27965	-2.236	0.04219	T	.	.	0.038	0.00009	B	.	.	0.793515	0.11639	8.226	0.52970097355771006	0.04849	0.00210	0.01196	N	AEFDBCIJ	0.015994	0.00334	N	-1.55995192706449	0.01477	0.06447882	-1.57749633058605	0.01793	0.0816331	0.999993733874849	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	3.22	-0.751	0.10518	-0.387000	0.07419	-11.338000	0.00613	-1.464000	0.01079	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.2729:0.0:0.4515:0.2756	3.162	0.06134	945	0.12563	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	374.98	20	chr22	46262994	.	A	G	374.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=684;ExcessHet=0.0000;FS=1.643;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.30;ReadPosRankSum=-1.132e+00;SOR=1.112	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1056	20	0	1	0
chr22	46297422	46297422	G	T	exonic	GTSE1	.	nonsynonymous SNV	GTSE1:NM_016426:exon2:c.G22T:p.D8Y,	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	.	.	.	.	.	.	1.000	N	.	.	3.0	T	-0.989	T	0.018	T	0.165	2.925	15.75	0.068	0.080	0.009	3.415	0.034	0.00359022138172	0.0022	0.000798722	0.0019	0.0004	0.0011	0	0.0006	0.0029	0.0055	0.0006	0.0019211	297	154602	rs201868940	0.0029	0.0030	0.0031	0.0028	0.0033	0.0029	0.0028	0.0032	0.0032	0.0003	0.0017	0.0103	0	0.0004	0.0005	0.0033	0.0029	0.0004	0.0018	0.0018	0.0019	0.0018	0.0030	0.0016	0.0016	0.0027	0.0026	0.0006	0	0.0007	0.0089	0	9.409e-05	0	0.0030	0.0019	0.0002	0.003	0.68238	D	0.04	0.50809	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.0	0.09167	T	-1.66	0.39692	N	0.237	0.26717	-0.9892	0.32803	T	0.018	0.07282	T	6	0.004812926	0.00102	T	0.00359	0.08216	T	0.034	0.08419	.	.	0.322230723748	0.31824	0.1897403424630426	0.18892	0.561206550401	0.52626	0.459089487791	0.33185	T	.	.	.	-0.581865	0.00188	T	-0.608456	0.12110	T	0.0594588973204298	0.07083	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.21201	B	.	.	1.894186	0.24061	16.25	0.98556596083164094	0.42922	0.02206	0.06433	N	ALL	0.044940	0.07291	N	-0.613890695189538	0.18526	0.9625419	-0.804448488505187	0.14388	0.7515169	0.999999966901385	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	2.35	0.068	0.13679	0.112000	0.15312	0.729000	0.21072	-0.169000	0.11342	0.001000	0.13787	0.001000	0.17328	0.006000	0.07323	0.1664:0.2724:0.5612:0.0	3.415	0.06946	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1756.98	34	chr22	46297422	.	G	T	1756.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.294;DP=862;ExcessHet=0.0000;FS=1.220;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.34;ReadPosRankSum=-1.689e+00;SOR=0.566	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr22	46297440	46297440	C	G	exonic	GTSE1	.	nonsynonymous SNV	GTSE1:NM_016426:exon2:c.C40G:p.R14G,	.	.	425	1091	6	0	0	6	0.00274223	.	.	758128	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.17	T	.	.	.	.	.	.	1.000	N	.	.	3.21	T	-1.013	T	0.024	T	0.056	2.155	13.16	2.48	1.689	2.244	8.571	0.038	.	7.7e-05	0.00778754	0.0042	0	0.0002	0.0001	0	0	0.0022	0.0306	0.0037128	574	154602	rs201036893	0.0017	0.0017	0.0010	0.0025	0.0274	0.0017	0.0017	0.0265	0.0261	0.0002	4.473e-05	0	0.0002	0	0.0005	9.895e-06	0.0022	0.0274	0.0011	0.0011	0.0006	0.0015	0.0321	0.0009	0.0009	0.0280	0.0264	0.0001	0	0	0	0	0	0	2.94e-05	0	0.0321	0.12	0.27904	T	0.137	0.33894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.21	0.07125	T	-0.94	0.25118	N	0.142	0.14196	-1.0129	0.26007	T	0.024	0.10103	T	6	0.0024000406	0.00036	T	.	.	.	0.038	0.09825	.	.	0.16115917748	0.15686	0.09620819248204526	0.09552	0.256701344774	0.28238	0.302537381649	0.10780	T	.	.	.	-0.684896	0.00045	T	-0.734952	0.04106	T	0.0830158910860818	0.10368	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07889	B	.	.	1.509852	0.19395	14.24	0.94806902760178513	0.25562	0.05333	0.11187	N	ALL	0.072271	0.14417	N	-0.37242411969415	0.26456	1.443993	-0.523116388508234	0.21526	1.164904	0.999999997581611	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	2.48	2.48	0.29194	1.228000	0.32190	1.067000	0.23771	0.599000	0.40250	0.001000	0.13787	0.001000	0.17328	0.091000	0.17840	0.0:1.0:0.0:0.0	8.571	0.32728	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1555.98	34	chr22	46297440	.	C	G	1555.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.520e-01;DP=851;ExcessHet=0.0000;FS=1.282;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=0.151;SOR=0.570	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr22	46346453	46346453	A	G	exonic	TRMU	.	nonsynonymous SNV	TRMU:NM_001282783:exon3:c.A26G:p.Q9R	Liver failure, transient infantile, Autosomal recessive	.	1	1517	4	0	0	4	0.00131666	.	.	141411	Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins|not_specified|Aminoglycoside-induced_deafness|not_provided	MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070,Orphanet:217371|MedGen:CN169374|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000,Orphanet:168609|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0045	0.00239617	0.0035	0.0013	0.0029	0	0.0026	0.0053	0.0066	0	0.0039521	611	154602	rs144586525	0.0067	0.0067	0.0069	0.0066	0.0082	0.0066	0.0066	0.0080	0.0080	0.0011	0.0037	0.0018	0	0.0028	0.0007	0.0082	0.0062	0.0002	0.0047	0.0047	0.0048	0.0045	0.0074	0.0044	0.0043	0.0068	0.0066	0.0014	0.0197	0.0049	0.0020	0	0.0039	0.0102	0.0074	0.0028	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	2403.98	282	chr22	46346453	.	A	G	2403.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.386e+00;DP=975;ExcessHet=0.0000;FS=2.024;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.52;ReadPosRankSum=1.08;SOR=0.833	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1087	20	0	1	0
chr22	46364623	46364623	C	T	exonic	CELSR1	.	nonsynonymous SNV	CELSR1:NM_001378328:exon33:c.G8668A:p.V2890M	.	.	.	.	.	.	.	.	.	.	.	3303905	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.931	D	0.000	U	1.000	D	2.32	M	-0.54	T	0.109	D	0.510	D	0.37	4.946	28.7	4.62	2.095	6.921	17.072	0.287	0.278613357475	7.7e-05	0.000599042	0.0001	0	0	0	0	9.335e-05	0	0.0006	0.0001423	22	154602	rs371493557	6.779e-05	6.772e-05	5.042e-05	8.534e-05	0.0007	5.675e-05	5.266e-05	0.0005	0.0005	8.962e-05	2.237e-05	0	0	1.92e-05	0.0007	1.979e-05	0.0002	0.0007	5.906e-05	5.905e-05	3.853e-05	8.053e-05	0.0010	3.074e-05	2.208e-05	0.0004	0.0003	2.404e-05	0	6.53e-05	0	0	0	0	2.94e-05	0	0.0010	0.032	0.44694	D	0.023	0.57104	D	1.0	0.90584	D	0.931	0.66596	D	0.000309	0.45977	U	0.000000	0.990038	0.41073	D	2.485	0.72352	M	-0.54	0.70950	T	-1.04	0.27259	N	0.633	0.64648	0.109	0.84341	D	0.510	0.81599	D	10	0.2533046	0.42695	T	0.278613	0.90148	D	0.287	0.60574	.	.	0.717119659472	0.71463	0.18631448090650202	0.18549	0.700790970231	0.61113	0.710299372673	0.68637	T	0.180426	0.53175	T	-0.217594	0.18322	T	-0.189541	0.55632	T	0.322503626346588	0.25923	T	0.941406	0.78138	D	0.2093422	0.43199	0.12983383	0.31210	0.21489424	0.43908	0.16001035	0.37288	-5.409	0.41006	T	.	.	0.291	0.52219	B	.	.	5.241558	0.87993	29.4	0.9985164037245019	0.93102	0.91436	0.53530	D	AEFDBHCI	0.835612	0.75349	D	0.718998496351292	0.80877	7.392893	0.670436126581519	0.80139	7.233233	0.999999999998221	0.74766	0.695654	0.57023	0	0.187218	0.04217	2	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.62	4.62	0.56946	7.020000	0.76158	5.448000	0.48638	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	17.072	0.86451	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1066.98	38	chr22	46364623	.	C	T	1066.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=855;ExcessHet=0.0000;FS=3.645;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.07;ReadPosRankSum=-1.180e+00;SOR=0.816	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chr22	46366404	46366404	G	A	exonic	CELSR1	.	nonsynonymous SNV	CELSR1:NM_001378328:exon30:c.C8282T:p.S2761L	.	.	413	1097	10	2	0	14	0.00634058	.	.	2819686	not_provided|CELSR1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.999	D	0.936	D	0.000	U	1.000	D	2.805	M	-0.65	T	0.289	D	0.556	D	0.581	3.186	16.66	4.47	2.195	8.984	17.095	0.518	0.652048848316	0.0026	0.00139776	0.0026	0	0	0	0	0.0040	0	0.0023	0.0009379	145	154602	rs144039991	0.0033	0.0032	0.0033	0.0033	0.0037	0.0032	0.0032	0.0036	0.0035	0.0017	0.0008	0.0023	0.0002	0.0051	0.0018	0.0037	0.0027	0.0019	0.0025	0.0025	0.0024	0.0025	0.0034	0.0023	0.0022	0.0030	0.0029	0.0014	0	0.0009	0.0023	0.0006	0.0041	0	0.0034	0.0024	0.0027	0.005	0.63226	D	0.002	0.79402	D	0.999	0.77913	D	0.936	0.67150	D	0.000009	0.62929	U	0.000000	0.999701	0.48408	D	2.995	0.85803	M	-0.65	0.72237	T	-5.28	0.84246	D	0.69	0.69562	0.289	0.87375	D	0.556	0.83785	D	10	0.032209724	0.01368	T	0.652049	0.97058	D	0.518	0.79461	.	.	0.740000015823	0.73766	0.4380938844681267	0.43726	0.64558191495	0.58000	0.732992649078	0.71943	T	0.698879	0.91312	D	-0.214281	0.18781	T	-0.0836275	0.64639	T	0.023954092948675	0.01139	T	0.948405	0.80130	D	0.5728782	0.71218	0.410385	0.65300	0.5728782	0.71219	0.410385	0.65300	-5.669	0.43417	T	.	.	0.279	0.51201	B	.	.	4.191034	0.63170	24.5	0.99814262028723832	0.89797	0.99414	0.95724	D	AEFDBI	0.897851	0.84048	D	0.733941608783556	0.81858	7.621505	0.636205278318237	0.77587	6.708175	0.999999999998004	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.47	4.47	0.53770	7.909000	0.86849	9.191000	0.79130	0.600000	0.45842	1.000000	0.71638	1.000000	0.68203	0.460000	0.28118	0.0:0.0:1.0:0.0	17.095	0.86509	964	0.07719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1967.98	44	chr22	46366404	.	G	A	1967.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.154;DP=984;ExcessHet=0.0000;FS=2.039;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=1.08;SOR=0.867	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	20	0	1	0
chr22	46391677	46391677	C	T	exonic	CELSR1	.	nonsynonymous SNV	CELSR1:NM_001378328:exon15:c.G6104A:p.R2035H	.	.	.	.	.	.	.	.	.	.	.	2684831	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.933	P	0.642	P	0.000	U	1.000	D	2.445	M	-0.09	T	-0.218	T	0.345	T	0.686	3.386	17.42	4.43	2.023	3.519	16.657	0.350	0.0441356490929	7.7e-05	0.000199681	3.701e-05	0.0001	0	0	0	3.34e-05	0	6.722e-05	3.23e-05	5	154602	rs372618228	1.716e-05	1.984e-05	1.776e-05	1.656e-05	2.521e-05	1.178e-05	9.96e-06	9.32e-06	7.62e-06	0	2.269e-05	0	2.521e-05	0	0	1.53e-05	8.314e-05	1.166e-05	1.969e-05	1.968e-05	1.284e-05	2.684e-05	0.0002	5.23e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.065	0.36310	T	0.017	0.60337	D	0.382	0.34403	B	0.099	0.30579	B	0.000001	0.62929	U	0.000000	0.999871	0.50225	D	2.56	0.74772	M	-0.09	0.64086	T	-2.91	0.60982	D	0.258	0.29197	-0.2184	0.77193	T	0.345	0.70980	T	10	0.3919683	0.54956	T	0.044136	0.61338	D	0.350	0.67142	.	.	0.595986907406	0.59277	0.3092085007053386	0.30833	0.302320151578	0.32561	0.522757649422	0.42014	T	0.319268	0.69057	T	0.0340371	0.56260	T	-0.0882545	0.64293	T	0.697604894638062	0.40605	D	0.874313	0.58483	D	0.36932275	0.58535	0.26115176	0.51888	0.36932275	0.58535	0.26115176	0.51887	-8.58	0.64957	D	.	.	0.082	0.08851	B	.	.	3.842924	0.55623	23.6	0.99770078584663568	0.85834	0.96027	0.67203	D	AEFDBI	0.611650	0.60002	D	0.310386645436711	0.56680	3.833215	0.317702998336907	0.56581	3.821498	0.999999999996164	0.74766	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.43	4.43	0.52967	3.677000	0.54354	4.648000	0.44184	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.880000	0.42090	0.0:1.0:0.0:0.0	16.657	0.85087	970	0.06235	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|GPCR, family 2, extracellular hormone receptor domain|Laminin EGF domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1057.98	33	chr22	46391677	.	C	T	1057.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=918;ExcessHet=0.0000;FS=1.676;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.26;ReadPosRankSum=-1.702e+00;SOR=0.878	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1336	20	0	1	0
chr22	46397724	46397724	T	C	exonic	CELSR1	.	nonsynonymous SNV	CELSR1:NM_001378328:exon12:c.A5651G:p.N1884S	.	.	417	1053	52	0	0	52	0.0240964	.	.	2736118	CELSR1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.19	T	0.435	B	0.109	B	0.001	U	1.000	D	1.765	L	1.59	T	-1.088	T	0.051	T	0.123	1.502	10.97	4.39	1.763	5.628	13.567	0.099	.	0.0035	0.00439297	0.0102	0.0019	0.0097	0.0003	0.0262	0.0119	0.0145	0.0112	0.0043208	668	154602	rs144122307	0.0055	0.0055	0.0054	0.0056	0.0336	0.0054	0.0054	0.0297	0.0282	0.0009	0.0044	0.0041	2.63e-05	0.0065	0.0336	0.0056	0.0063	0.0071	0.0043	0.0043	0.0041	0.0046	0.0060	0.0041	0.0040	0.0051	0.0049	0.0013	0	0.0050	0.0023	0.0002	0.0087	0.0068	0.0055	0.0095	0.0060	0.095	0.31235	T	0.099	0.38891	T	0.104	0.25941	B	0.024	0.20255	B	0.000929	0.41028	U	0.149021	0.970658	0.25693	N	1.8	0.47472	L	1.59	0.28836	T	-2.85	0.60029	D	0.468	0.50418	-1.0883	0.05821	T	0.051	0.21689	T	10	0.0123339	0.00265	T	.	.	.	0.099	0.28413	.	.	0.51743518642	0.51388	0.17866635132833883	0.17785	0.180036691928	0.20253	0.33372759819	0.15496	T	0.476755	0.80727	T	-0.553792	0.00277	T	-0.564115	0.15992	T	0.0322841818226493	0.02352	T	0.834417	0.50357	T	0.123880945	0.29080	0.12335056	0.29745	0.123880945	0.29079	0.12335056	0.29745	-5.796	0.44540	T	.	.	0.093	0.14062	B	.	.	2.594154	0.33663	19.40	0.90232056920767623	0.19504	0.97015	0.72198	D	AEFDBI	0.707286	0.66206	D	-0.195903848770706	0.33304	1.887959	-0.176973184716431	0.32385	1.84195	0.999991459268569	0.74766	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.39	4.39	0.52211	5.776000	0.68576	7.625000	0.62478	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.004000	0.06068	0.0:0.0:0.0:1.0	13.567	0.61287	970	0.06235	EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	984.98	33	chr22	46397724	.	T	C	984.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.353;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.05;ReadPosRankSum=1.36;SOR=0.693	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1087	20	0	1	0
chr22	46533881	46533881	T	C	exonic	CELSR1	.	nonsynonymous SNV	CELSR1:NM_001378328:exon1:c.A3290G:p.N1097S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.989	D	0.831	P	0.000	U	0.998	D	3.23	M	0.65	T	0.102	D	0.470	T	0.388	3.594	18.30	4.42	1.622	7.718	13.326	0.343	0.191609039759	.	.	8.271e-06	0	8.645e-05	0	0	0	0	0	3.84e-05	1	26028	rs769460485	2.054e-06	2.052e-06	1.362e-06	2.752e-06	0.0002	5.5e-07	1.5e-07	.	.	0	2.236e-05	0	0	1.899e-05	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.989	0.62824	D	0.831	0.59664	P	0.000001	0.84330	U	0.000000	0.99782	0.44227	D	3.06	0.86941	M	0.65	0.52642	T	-4.08	0.74742	D	0.813	0.80866	0.102	0.84219	D	0.470	0.79583	T	10	0.87324333	0.86601	D	0.191609	0.86194	D	0.343	0.66488	0.585	0.71245	0.664390184103	0.66157	0.4518638861038502	0.45104	1.00767111869	0.74647	0.441977024078	0.30847	T	0.652189	0.89459	D	-0.03587	0.46561	T	-0.206436	0.54035	T	0.975515365600586	0.70968	D	0.981802	0.93846	D	0.6534598	0.75549	0.55990744	0.74538	0.6534598	0.75550	0.55990744	0.74538	-8.757	0.66119	D	.	.	0.261	0.49557	B	.	.	3.500136	0.48969	22.7	0.99835153685800027	0.91628	0.95797	0.66195	D	AEFDGBCI	0.879683	0.80581	D	0.393528452284044	0.61070	4.303401	0.355371960936718	0.58832	4.056328	0.999999999990736	0.74766	0.712529	0.81865	0	0.626922	0.53725	0	0.635938	0.45252	0	0.699875	0.68795	0	.	.	4.42	4.42	0.52775	7.699000	0.83526	7.954000	0.75900	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.766000	0.36367	0.0:0.0:0.0:1.0	13.326	0.59895	940	0.13648	Cadherin conserved site|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2930.98	85	chr22	46533881	.	T	C	2930.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=2769;ExcessHet=0.0000;FS=7.418;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=0.111;SOR=0.717	GT:AD:DP:GQ:PL	0/0:189,0:189:99:0,120,1800	20	0	1	0
chr22	46534116	46534116	C	A	exonic	CELSR1	.	nonsynonymous SNV	CELSR1:NM_001378328:exon1:c.G3055T:p.A1019S	.	.	416	1092	13	1	0	15	0.00682128	.	.	1173508	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.05	D	0.993	D	0.973	D	0.000	U	0.906	D	1.965	M	0.62	T	-0.726	T	0.059	T	0.511	3.471	17.77	4.14	2.148	7.341	16.228	0.330	.	0.0023	0.0141773	0.0131	0.0025	0.0985	0.0001	0.0044	0.0029	0.0022	0.0119	0.0128006	1979	154602	rs61737811	0.0058	0.0058	0.0060	0.0056	0.0856	0.0057	0.0057	0.0833	0.0824	0.0012	0.0856	0.0002	0	0.0064	0.0033	0.0026	0.0053	0.0119	0.0082	0.0082	0.0076	0.0088	0.0525	0.0078	0.0077	0.0494	0.0482	0.0019	0	0.0525	0	0	0.0065	0	0.0032	0.0090	0.0126	0.011	0.55530	D	0.013	0.63109	D	0.993	0.65571	D	0.973	0.72923	D	0.000003	0.62929	U	0.000000	0.90606	0.36290	D	1.495	0.37439	L	0.62	0.53302	T	-2.39	0.52612	N	0.276	0.31253	-0.7263	0.59150	T	0.059	0.24760	T	10	0.003301531	0.00057	T	.	.	.	0.330	0.65226	.	.	.	.	0.4949297392181958	0.49413	1.69652609271	0.90222	0.501089096069	0.38980	T	0.213614	0.57499	T	-0.380267	0.03104	T	-0.25046	0.49771	T	0.0167307590500315	0.00430	T	0.917308	0.70348	D	0.32108778	0.54731	0.30106083	0.56139	0.32108778	0.54731	0.30106083	0.56138	-6.869	0.53070	T	.	.	0.170	0.37388	B	.	.	4.354633	0.66909	25.0	0.99747843357543564	0.84002	0.96976	0.71977	D	AEFDGBCI	0.794830	0.72242	D	0.305399013379989	0.56425	3.80721	0.31631553278169	0.56498	3.813208	0.999999999707277	0.74766	0.695654	0.57023	0	0.524598	0.11158	1	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.14	4.14	0.47821	7.595000	0.81968	7.736000	0.67890	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.857000	0.40602	0.0:1.0:0.0:0.0	16.228	0.82132	940	0.13648	Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3376.98	85	chr22	46534116	.	C	A	3376.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.350e-01;DP=2711;ExcessHet=0.0000;FS=4.604;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=-8.560e-01;SOR=0.827	GT:AD:DP:GQ:PL	0/1:151,138:289:99:3391,0,3675	20	0	1	0
chr22	46536756	46536756	A	G	exonic	CELSR1	.	nonsynonymous SNV	CELSR1:NM_001378328:exon1:c.T415C:p.C139R	.	.	415	1071	33	3	0	39	0.0178817	.	.	2819725	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.12	T	0.0	B	0.0	B	0.775	U	1.000	N	0	N	0.03	T	-1.019	T	0.112	T	0.181	-0.858	0.532	0.761	-0.015	-0.260	2.358	0.071	0.121595727327	.	.	0	.	.	0	.	.	.	0	0.0002393	37	154602	rs759467955	0.0054	0.0043	0.0053	0.0054	0.0193	0.0052	0.0052	0.0150	0.0134	0.0009	0.0072	0.0256	0	0.0003	0.0193	0.0053	0.0071	0.0057	0.0045	0.0044	0.0047	0.0042	0.0060	0.0042	0.0041	0.0055	0.0053	0.0010	0	0.0054	0.0247	0	0.0003	0.0342	0.0060	0.0087	0.0052	0.076	0.34269	T	0.454	0.12812	T	0.0	0.02946	B	0.0	0.01387	B	0.774893	0.09518	U	0.808768	1	0.08975	N	0	0.06538	N	-0.24	0.66834	T	0.53	0.02808	N	0.155	0.16028	-1.0194	0.23910	T	0.112	0.40122	T	10	0.003765136	0.00070	T	0.121596	0.80239	D	0.071	0.20720	.	.	0.158540857583	0.15491	0.17129365621047626	0.17049	1.23612584756	0.81467	0.693349957466	0.66187	T	0.08547	0.37509	T	-0.510128	0.00501	T	-0.493864	0.22986	T	0.0346802987025587	0.02754	T	0.181682	0.01835	T	0.10864709	0.25689	0.215554	0.46149	0.10864709	0.25689	0.215554	0.46148	-2.165	0.03874	T	.	.	0.070	0.03336	B	.	.	0.605335	0.09738	6.506	0.26078904290104726	0.01232	0.01462	0.04886	N	AEFDBCI	0.031629	0.03420	N	-1.44437987505424	0.02261	0.09966429	-1.48791726805176	0.02443	0.1123685	0.999947263703116	0.47345	0.59774	0.34471	0	0.573078	0.20572	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	1.84	0.761	0.17594	0.305000	0.19006	-1.025000	0.06567	-0.403000	0.05289	0.067000	0.21986	0.000000	0.08366	0.001000	0.02609	0.305:0.5073:0.0:0.1876	2.358	0.04037	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	128.33	24	chr22	46536756	.	A	G	128.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.989e+00;DP=441;ExcessHet=0.0000;FS=20.584;InbreedingCoeff=-0.0372;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=8.02;ReadPosRankSum=0.726;SOR=2.510	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,731	19	0	1	1
chr22	46536878	46536878	G	C	exonic	CELSR1	.	nonsynonymous SNV	CELSR1:NM_001378328:exon1:c.C293G:p.P98R	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.004	B	0.002	B	0.264	U	0.993	N	0	N	-0.2	T	-1.045	T	0.096	T	0.252	1.243	10.04	2.05	0.955	-1.721	3.302	0.050	0.858678672298	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1465526770	1.205e-05	1.231e-05	1.62e-05	7.644e-06	0.0007	6.72e-06	5.18e-06	0.0001	5.322e-05	4.746e-05	0	0	0	0	0.0007	6.572e-06	7.364e-05	2.752e-05	4.712e-05	4.618e-05	5.25e-05	4.146e-05	0.0002	2.156e-05	1.557e-05	5.399e-05	2.866e-05	4.871e-05	0	0.0002	0	0	0	0	3.001e-05	0	0	0.522	0.07211	T	0.234	0.24840	T	0.004	0.12183	B	0.002	0.06944	B	0.264068	0.15257	U	0.502459	0.992895	0.23807	N	0.55	0.14455	N	-0.41	0.69413	T	-1.24	0.31375	N	0.266	0.30118	-1.0447	0.15913	T	0.096	0.36185	T	10	0.17119265	0.31824	T	0.858679	0.98914	D	0.050	0.13987	0.269	0.21735	0.305252298933	0.30134	0.24656596533450545	0.24570	0.76156769911	0.64286	0.845644712448	0.88955	D	0.116125	0.43524	T	-0.137918	0.30222	T	-0.435886	0.29270	T	0.0490674694962522	0.05334	T	0.453455	0.12891	T	0.038059823	0.04999	0.07487225	0.16425	0.038059823	0.04999	0.07487225	0.16425	-2.828	0.08444	T	.	.	0.079	0.07412	B	.	.	1.149791	0.15376	11.80	0.98149227224851776	0.38672	0.03135	0.08088	N	AEFDBCI	0.029506	0.02796	N	-1.00187934797962	0.08565	0.4020537	-0.935256667086079	0.11266	0.5728843	0.999963284198335	0.48965	0.582742	0.33608	0	0.573078	0.20572	0	0.503968	0.08637	0	0.620976	0.48614	0	.	.	2.05	2.05	0.25860	-0.167000	0.09928	1.033000	0.23495	0.454000	0.21428	0.076000	0.22236	0.698000	0.26216	0.023000	0.12082	0.1725:0.2816:0.5458:0.0	3.302	0.06576	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	483.98	33	chr22	46536878	.	G	C	483.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.253e+00;DP=719;ExcessHet=0.0000;FS=1.210;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=0.025;SOR=0.895	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,939	20	0	1	0
chr22	46691678	46691678	G	A	exonic	CERK	.	nonsynonymous SNV	CERK:NM_022766:exon11:c.C1226T:p.P409L,	.	.	.	.	.	.	.	.	.	.	.	2360072	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.973	D	0.000	D	1.000	D	3.135	M	1.91	T	-0.513	T	0.208	T	0.956	3.196	16.70	4.47	2.035	8.949	15.730	0.570	0.0792647604393	0.0002	.	0.0001	0.0005	0	0	0	0.0002	0	0	0.0001229	19	154602	rs200461233	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	6.708e-05	0	0	5.632e-05	0.0002	0.0001	0.0001	6.956e-05	0.0001	0.0001	0.0001	0.0001	0.0002	6.507e-05	5.319e-05	9.542e-05	6.946e-05	0.0002	0	0	0	0.0002	0	0	8.819e-05	0	0.0002	0.0	0.91255	D	0.01	0.65728	D	1.0	0.90584	D	0.973	0.72923	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.61	0.76335	M	1.91	0.23283	T	-9.31	0.98318	D	0.977	0.98750	-0.5131	0.68173	T	0.208	0.56703	T	10	0.9646555	0.95926	D	0.079265	0.73194	D	0.570	0.82516	.	.	0.467247493403	0.46351	0.8616557746505717	0.86129	0.775051705546	0.64973	0.732385277748	0.71854	T	0.764225	0.93637	D	0.0557255	0.59074	T	0.148246	0.80074	D	0.967877626419067	0.68053	D	0.989401	0.96508	D	0.7784551	0.82559	0.61422485	0.77548	0.7784551	0.82561	0.61422485	0.77549	-9.414	0.70323	D	.	.	0.441	0.61740	A	.	.	4.938119	0.81469	27.6	0.99827487279137883	0.90939	0.98916	0.88583	D	AEFBI	0.819327	0.74038	D	0.71502058844924	0.80615	7.334094	0.574832123724541	0.73141	5.922148	0.999994077426974	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.47	4.47	0.53770	8.983000	0.93040	9.585000	0.81036	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.042000	0.14466	0.0:0.0:1.0:0.0	15.730	0.77556	693	0.58582	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2047.98	43	chr22	46691678	.	G	A	2047.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.633;DP=908;ExcessHet=0.0000;FS=7.543;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=-1.827e+00;SOR=0.532	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1175	20	0	1	0
chr22	46695216	46695216	C	T	exonic	CERK	.	nonsynonymous SNV	CERK:NM_022766:exon9:c.G1043A:p.R348Q,	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.983	D	0.65	P	0.033	N	0.659	D	2.67	M	1.0	T	-0.772	T	0.146	T	0.426	3.687	18.73	2.58	0.957	1.879	5.152	0.269	0.0150940513391	0.0005	0.000399361	0.0003	0	8.684e-05	0	0	0.0003	0	0.0010	0.0002781	43	154602	rs148368178	0.0004	0.0004	0.0004	0.0004	0.0013	0.0004	0.0004	0.0011	0.0010	9.317e-05	4.595e-05	0	0	3.767e-05	0.0005	0.0004	0.0003	0.0013	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0001	0.0010	0.0007	4.808e-05	0	0	0	0	0	0	0.0004	0	0.0019	0.072	0.34982	T	0.262	0.22895	T	0.983	0.60381	D	0.65	0.52463	P	0.033329	0.24912	N	0.388364	0.53745	0.33031	D	2.925	0.84406	M	1.0	0.41392	T	-2.24	0.50175	N	0.381	0.42247	-0.7719	0.56753	T	0.146	0.47074	T	10	0.08953524	0.15517	T	0.015094	0.35618	T	0.269	0.58381	.	.	0.461058313273	0.45730	0.7479532455753046	0.74741	0.699819188154	0.61061	0.485747605562	0.36850	T	0.192615	0.54782	T	-0.362914	0.03968	T	-0.354675	0.38668	T	0.175761118531227	0.18964	T	0.772323	0.40326	T	0.097747356	0.23045	0.08128714	0.18460	0.097747356	0.23045	0.08128714	0.18460	-7.24	0.55768	T	.	.	0.085	0.09965	B	.	.	4.388563	0.67704	25.1	0.99925871602022598	0.99042	0.80782	0.40333	D	AEFGBI	0.101449	0.20376	N	0.292843646528596	0.55786	3.742638	0.224362682949448	0.51203	3.304853	0.363654689718973	0.19802	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.68	2.58	0.30011	1.926000	0.39715	2.447000	0.32796	0.599000	0.40250	1.000000	0.71638	0.988000	0.31051	0.755000	0.35964	0.0:0.6363:0.1736:0.1902	5.152	0.14346	698	0.58074	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2095.98	36	chr22	46695216	.	C	T	2095.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.695;DP=878;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=0.227;SOR=0.654	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chr22	49883846	49883846	G	A	exonic	ZBED4	.	nonsynonymous SNV	ZBED4:NM_014838:exon2:c.G184A:p.G62S,	.	.	424	1065	32	1	0	34	0.0157116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.031	B	0.01	B	0.923	N	1.000	N	0	N	1.01	T	-0.973	T	0.043	T	0.1	2.273	13.56	-8.46	-2.295	-0.385	12.308	0.021	.	0.0033	0.00698882	0.0061	0.0009	0.0011	0.0001	0.0014	0.0041	0.0099	0.0260	0.0057891	895	154602	rs149368184	0.0053	0.0053	0.0046	0.0060	0.0259	0.0052	0.0052	0.0250	0.0247	0.0011	0.0013	0.0025	5.054e-05	0.0015	0.0075	0.0044	0.0054	0.0259	0.0032	0.0032	0.0032	0.0032	0.0255	0.0030	0.0029	0.0219	0.0205	0.0012	0	0.0018	0.0029	0.0002	0.0010	0.0034	0.0038	0.0028	0.0255	0.181	0.21884	T	0.506	0.10967	T	0.031	0.20130	B	0.01	0.14941	B	0.923499	0.07491	N	1.044870	1	0.08975	N	0.55	0.14455	N	1.01	0.41058	T	0.05	0.06369	N	0.085	0.06190	-0.9729	0.36583	T	0.043	0.18410	T	10	0.0031244755	0.00052	T	.	.	.	0.021	0.04004	.	.	0.198222871337	0.19423	0.07245715163283294	0.07182	0.42463714905	0.42886	0.225247323513	0.01635	T	0.026783	0.19750	T	-0.647097	0.00075	T	-0.68269	0.06821	T	0.0122027998289608	0.00196	T	0.412859	0.10744	T	0.032617938	0.03322	0.03913748	0.03940	0.032617938	0.03322	0.03913748	0.03939	-3.178	0.12214	T	.	.	0.085	0.10062	B	.	.	-1.112552	0.00625	0.017	0.70668893529333754	0.09371	0.00680	0.02918	N	AEFDBI	0.018867	0.00606	N	-1.72146032854527	0.00768	0.03319096	-1.79521640729504	0.00775	0.03454767	0.999886811230625	0.44867	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.31	-8.46	0.00822	-0.534000	0.06238	-2.552000	0.03617	-0.116000	0.14526	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1199:0.4749:0.4052:0.0	12.308	0.54234	975	0.05339	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4013.11	33	chr22	49883846	.	G	A	4013.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.85;DP=976;ExcessHet=0.1072;FS=2.630;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.08;ReadPosRankSum=1.90;SOR=0.868	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	19	0	2	0
chr22	49884936	49884936	C	T	exonic	ZBED4	.	nonsynonymous SNV	ZBED4:NM_014838:exon2:c.C1274T:p.A425V,	.	.	426	1039	54	3	0	60	0.0280636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.0	B	0.0	B	0.626	N	1.000	N	-1.245	N	0.97	T	-0.993	T	0.018	T	0.034	-2.065	0.006	-3.87	-1.067	-0.431	6.952	0.010	.	0.0036	0.00399361	0.0050	0.0012	0.0048	0	0.0014	0.0052	0.0112	0.0108	0.0047606	736	154602	rs146411541	0.0044	0.0044	0.0040	0.0047	0.0234	0.0043	0.0042	0.0202	0.0190	0.0013	0.0044	0.0203	5.043e-05	0.0007	0.0234	0.0037	0.0067	0.0105	0.0037	0.0037	0.0036	0.0038	0.0104	0.0034	0.0033	0.0081	0.0073	0.0010	0	0.0053	0.0196	0	0.0014	0.0102	0.0043	0.0071	0.0104	0.639	0.05017	T	0.486	0.11691	T	0.0	0.02946	B	0.0	0.01387	B	0.625807	0.10734	N	0.810413	1	0.08975	N	-1.39	0.00611	N	0.97	0.42502	T	-0.11	0.08653	N	0.043	0.01577	-0.9929	0.31853	T	0.018	0.07329	T	10	0.002109021	0.00030	T	.	.	.	0.010	0.01040	.	.	0.043077524339	0.03247	0.14576151107688307	0.14499	0.416527251118	0.42292	0.305198401213	0.11181	T	0.022249	0.17186	T	-0.703328	0.00035	T	-0.775382	0.02595	T	0.000719385774239782	0.00007	T	0.331767	0.06954	T	0.012989459	0.00046	0.023819037	0.00395	0.012989459	0.00046	0.023819037	0.00395	-3.132	0.11668	T	.	.	0.064	0.01577	B	.	.	-0.973239	0.00810	0.027	0.27354374797518821	0.01354	0.00434	0.02127	N	AEFBI	0.015799	0.00319	N	-1.86894502346642	0.00397	0.01708544	-1.83612183965624	0.00650	0.02891738	0.935458911534085	0.27214	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.6	-3.87	0.03939	-0.396000	0.07338	-1.679000	0.04930	-1.577000	0.00925	0.001000	0.13787	0.000000	0.08366	0.029000	0.12982	0.0:0.38:0.1225:0.4976	6.952	0.23732	974	0.05496	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3140.11	107	chr22	49884936	.	C	T	3140.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.213;DP=2031;ExcessHet=0.1072;FS=0.481;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=-7.410e-01;SOR=0.653	GT:AD:DP:GQ:PL	0/0:115,0:115:99:0,120,1800	19	0	2	0
chr22	49909927	49909927	G	A	exonic	ALG12	.	nonsynonymous SNV	ALG12:NM_024105:exon5:c.C631T:p.R211C,	Congenital disorder of glycosylation, type Ig	.	0	1479	43	0	0	43	0.0143286	.	.	101991	ALG12-congenital_disorder_of_glycosylation|not_provided|not_specified	MONDO:MONDO:0011783,MedGen:C2931001,OMIM:607143,Orphanet:79324|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.019	B	0.022	B	0.285	N	1.000	N	2.015	M	-0.06	T	-0.981	T	0.060	T	0.424	1.336	10.39	-2.93	-0.130	2.156	5.595	0.237	.	0.0043	0.0165735	0.0095	0.0038	0.0020	0.0296	0.0014	0.0044	0.0123	0.0312	0.0089714	1387	154602	rs144665682	0.0069	0.0069	0.0061	0.0076	0.0309	0.0068	0.0067	0.0300	0.0296	0.0061	0.0019	0.0050	0.0300	0.0019	0.0087	0.0046	0.0078	0.0309	0.0062	0.0062	0.0059	0.0064	0.0324	0.0058	0.0057	0.0284	0.0269	0.0059	0	0.0032	0.0052	0.0324	0.0013	0.0034	0.0042	0.0033	0.0313	0.173	0.22573	T	0.17	0.30436	T	0.019	0.17989	B	0.022	0.19653	B	0.285252	0.03858	N	1.369290	1	0.08975	N	0.795	0.19620	N	-0.06	0.63568	T	-2.8	0.59226	D	0.187	0.20395	-0.9811	0.34748	T	0.060	0.25127	T	10	0.006156057	0.00139	T	.	.	.	0.237	0.54074	.	.	0.629195211289	0.62616	0.4898512708998514	0.48905	0.216843438073	0.24205	0.243083298206	0.03075	T	0.34965	0.71747	T	-0.41824	0.01755	T	-0.349864	0.39221	T	0.0094539555011702	0.00122	T	0.611339	0.23205	T	0.09904964	0.23370	0.07984733	0.18010	0.09904964	0.23370	0.07984733	0.18010	-5.331	0.40249	T	0.08436020165010061	0.04649	0.103	0.18372	B	.	.	1.568494	0.20082	14.58	0.92082893888583861	0.21431	0.16713	0.19515	N	AEFDBI	0.058154	0.10890	N	-0.904010963300941	0.10748	0.5151285	-0.985141080864406	0.10119	0.5076123	0.999977860468369	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.44	-2.93	0.05261	2.172000	0.42090	0.551000	0.19421	-0.153000	0.12021	0.704000	0.28664	0.000000	0.08366	0.000000	0.00833	0.3751:0.4205:0.2043:0.0	5.595	0.16603	970	0.06235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2594.11	34	chr22	49909927	.	G	A	2594.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.86;DP=1344;ExcessHet=0.1072;FS=0.481;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=1.57;SOR=0.652	GT:AD:DP:GQ:PL	0/0:91,0:91:99:0,120,1800	19	0	2	0
chr22	49922288	49922325	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	0	exonic	CRELD2	.	.	.	.	.	435	791	175	16	105	312	0.115707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	9259.9	36	chr22	49922288	.	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	C,*	9259.9	.	AC=5,3;AF=0.119,0.071;AN=42;BaseQRankSum=1.32;DP=1395;ExcessHet=0.0303;FS=0.551;InbreedingCoeff=0.3824;MLEAC=5,3;MLEAF=0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=16.13;ReadPosRankSum=-6.650e-01;SOR=0.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:78,0,0:78:99:.:.:0,120,1800,120,1800,1800	15	1	2	0
chr22	49922304	49922304	C	0	exonic	CRELD2	.	.	.	.	.	445	520	288	49	220	606	0.270687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	17831.26	36	chr22	49922304	.	C	T,*	17831.26	.	AC=10,8;AF=0.238,0.190;AN=42;BaseQRankSum=2.03;DP=1611;ExcessHet=1.2156;FS=0.561;InbreedingCoeff=0.0278;MLEAC=10,8;MLEAF=0.238,0.190;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=0.644;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,53,0:105:99:0|1:49922276_G_T:1866,0,1862,2023,2021,4044:49922276	7	1	7	0
chr22	49922325	49922325	G	0	exonic	CRELD2	.	.	.	.	.	441	818	50	1	212	264	0.0308057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1933.0	36	chr22	49922325	.	G	C,*	1933.0	.	AC=1,7;AF=0.025,0.175;AN=40;BaseQRankSum=1.19;DP=1482;ExcessHet=0.0354;FS=0.000;InbreedingCoeff=0.3872;MLEAC=1,7;MLEAF=0.025,0.175;MQ=60.00;MQRankSum=0.00;QD=3.70;ReadPosRankSum=1.36;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:61,0,0:61:99:.:.:0,120,1800,120,1800,1800	14	0	1	1
chr22	49997398	49997398	C	T	exonic	IL17REL	.	nonsynonymous SNV	IL17REL:NM_001001694:exon13:c.G896A:p.C299Y	.	.	416	1078	27	1	0	29	0.0132723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.761	P	0.463	P	0.200	U	0.996	N	1.355	L	1.91	T	-1.083	T	0.029	T	0.345	1.025	9.188	1.34	0.326	1.348	5.122	0.041	.	0.0038	0.00978435	0.0102	0.0011	0.0203	0.0095	0.0156	0.0069	0.0097	0.0207	0.0088356	1366	154602	rs149914294	0.0072	0.0072	0.0068	0.0076	0.0203	0.0071	0.0070	0.0195	0.0192	0.0009	0.0171	0.0023	0.0115	0.0136	0.0104	0.0056	0.0062	0.0203	0.0066	0.0066	0.0062	0.0070	0.0252	0.0063	0.0061	0.0216	0.0202	0.0008	0	0.0085	0.0037	0.0099	0.0126	0.0170	0.0074	0.0057	0.0252	0.014	0.53172	D	0.057	0.46406	T	0.761	0.43566	P	0.463	0.46548	P	0.200040	0.16624	U	0.423844	0.995598	0.23251	N	1.995	0.54099	M	1.91	0.23283	T	-3.74	0.71042	D	0.384	0.42541	-1.0826	0.06852	T	0.029	0.12278	T	10	0.004169047	0.00082	T	.	.	.	0.041	0.10877	.	.	.	.	0.7003880099128312	0.69979	0.566038059239	0.52916	0.587475061417	0.51138	T	0.072536	0.34477	T	-0.515064	0.00470	T	-0.497035	0.22657	T	0.043016398541308	0.04240	T	0.473453	0.14099	T	0.16738981	0.37132	0.2157739	0.46179	0.16738981	0.37132	0.2157739	0.46178	-4.617	0.32385	T	.	.	0.353	0.57016	A	.;.	.;.	1.593040	0.20375	14.72	0.5374895596968956	0.05000	0.37034	0.25669	N	AEFDBI	0.100557	0.20218	N	-0.404946728151991	0.25295	1.372082	-0.510310680304286	0.21873	1.185335	0.1196562036741	0.16849	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.567892	0.33627	0	.	.	2.39	1.34	0.21018	-0.038000	0.12096	1.234000	0.25062	-0.204000	0.08590	0.000000	0.06391	0.874000	0.27626	0.458000	0.28074	0.0:0.8196:0.0:0.1804	5.122	0.14198	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	913.98	37	chr22	49997398	.	C	T	913.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.664e+00;DP=795;ExcessHet=0.0000;FS=5.024;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.64;ReadPosRankSum=-8.220e-01;SOR=0.296	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1394	20	0	1	0
chr22	49998059	49998059	G	A	exonic	IL17REL	.	nonsynonymous SNV	IL17REL:NM_001001694:exon11:c.C785T:p.P262L	.	.	353	1140	27	2	0	31	0.0134141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.196	B	0.016	B	0.878	N	1.000	N	0.895	L	2.55	T	-0.961	T	0.011	T	0.12	0.584	7.154	-1.9	-0.213	0.158	7.460	0.051	.	0.0046	0.00978435	0.0109	0.0014	0.0200	0.0102	0.0142	0.0078	0.0096	0.0213	0.009353	1446	154602	rs142430606	0.0075	0.0076	0.0070	0.0081	0.0202	0.0074	0.0074	0.0194	0.0191	0.0010	0.0159	0.0026	0.0117	0.0139	0.0098	0.0062	0.0064	0.0202	0.0072	0.0072	0.0068	0.0076	0.0253	0.0068	0.0067	0.0216	0.0203	0.0009	0	0.0086	0.0046	0.0102	0.0128	0.0170	0.0086	0.0061	0.0253	0.294	0.14793	T	0.484	0.11760	T	0.196	0.29532	B	0.016	0.17743	B	0.877826	0.07216	N	1.071190	1	0.08975	N	1.4	0.35362	L	2.55	0.13795	T	-2.96	0.61722	D	0.162	0.17002	-0.9609	0.39012	T	0.011	0.03996	T	10	0.0031473637	0.00053	T	.	.	.	0.051	0.14325	.	.	.	.	0.28385682497838705	0.28298	0.23272974605	0.25809	0.401216804981	0.25237	T	0.020021	0.15839	T	-0.623332	0.00105	T	-0.652555	0.08776	T	0.0182060946116514	0.00541	T	0.50185	0.15733	T	0.055870853	0.10916	0.09897229	0.23614	0.055870853	0.10915	0.09897229	0.23613	-8.295	0.63062	D	.	.	0.097	0.15609	B	.;.	.;.	1.469939	0.18935	14.00	0.61975538515918471	0.06845	0.01983	0.05993	N	AEFDBI	0.035760	0.04655	N	-0.962792134157025	0.09407	0.4450946	-0.958087245727032	0.10736	0.5426275	0.140524573342122	0.17264	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.57	-1.9	0.07248	-0.496000	0.06517	0.036000	0.13800	-0.132000	0.13132	0.000000	0.06391	0.004000	0.18990	0.579000	0.30870	0.5351:0.0:0.4649:0.0	7.460	0.26457	946	0.12043	Interleukin-17 receptor C/E, N-terminal;Interleukin-17 receptor C/E, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	650.98	35	chr22	49998059	.	G	A	650.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.85;ReadPosRankSum=0.589;SOR=0.711	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1203	20	0	1	0
chr22	49999850	49999850	T	C	exonic	IL17REL	.	nonsynonymous SNV	IL17REL:NM_001001694:exon7:c.A452G:p.E151G	.	.	405	1089	27	1	0	29	0.01314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.718	P	0.295	B	0.201	U	1.000	N	2.175	M	2.34	T	-1.058	T	0.021	T	0.289	1.266	10.13	1.33	-0.103	1.341	4.135	0.037	.	0.0028	0.00938498	0.0170	0.0010	0.0291	0.0073	0.2143	0.0106	0.0217	0.0223	0.0001537	4	26028	rs200958270	0.0068	0.0067	0.0064	0.0073	0.0204	0.0067	0.0067	0.0196	0.0193	0.0009	0.0157	0.0023	0.0110	0.0117	0.0093	0.0056	0.0060	0.0204	0.0065	0.0065	0.0061	0.0069	0.0251	0.0062	0.0060	0.0214	0.0201	0.0010	0	0.0085	0.0037	0.0101	0.0108	0.0170	0.0074	0.0052	0.0251	0.006	0.61437	D	0.079	0.42086	T	0.718	0.42284	P	0.295	0.40843	B	0.200749	0.16606	U	0.547580	1	0.08975	N	2.175	0.60977	M	2.34	0.16351	T	-4.59	0.78891	D	0.32	0.36043	-1.0575	0.12388	T	0.021	0.09056	T	10	0.0023868978	0.00035	T	.	.	.	0.037	0.09474	.	.	.	.	0.4867419778835534	0.48594	0.37277209944	0.38762	0.689770460129	0.65673	T	0.052898	0.29291	T	-0.542197	0.00325	T	-0.536009	0.18690	T	0.0281239854340343	0.01706	T	0.417258	0.10990	T	0.2990288	0.52817	0.26127082	0.51902	0.2990288	0.52817	0.26127082	0.51901	-7.701	0.59015	D	.	.	0.241	0.47557	B	.;.	.;.	2.852537	0.37665	20.6	0.99089437932231228	0.52173	0.12369	0.17226	N	AEFDBHCI	0.061432	0.11743	N	-0.498912231032657	0.22116	1.178677	-0.686593851938898	0.17295	0.919027	0.990245747383054	0.32087	0.623204	0.39778	0	0.578056	0.33634	0	0.378051	0.06126	2	0.554799	0.18163	0	.	.	3.63	1.33	0.20958	0.448000	0.21443	0.412000	0.18122	0.568000	0.28809	0.001000	0.13787	0.002000	0.18203	0.085000	0.17524	0.206:0.0:0.2137:0.5803	4.135	0.09634	946	0.12043	Interleukin-17 receptor C/E, N-terminal;Interleukin-17 receptor C/E, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	556.98	33	chr22	49999850	.	T	C	556.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.511e+00;DP=691;ExcessHet=0.0000;FS=5.153;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.28;ReadPosRankSum=-5.630e-01;SOR=0.217	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,956	20	0	1	0
chr22	50108204	50108204	G	A	exonic	MOV10L1	.	nonsynonymous SNV	MOV10L1:NM_001164104:exon4:c.G511A:p.E171K	.	.	429	1086	7	0	0	7	0.00321248	.	.	2367252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.45	T	0.897	P	0.38	B	0.000	D	1.000	D	1.09	L	1.5	T	-1.088	T	0.049	T	0.352	1.228	9.982	2.01	0.226	3.163	6.750	0.052	0.0113951479358	0.0002	.	0.0006	9.929e-05	0.0008	0	0.0002	0.0009	0.0023	6.2e-05	0.0005304	82	154602	rs147590689	0.0005	0.0005	0.0005	0.0005	0.0184	0.0004	0.0004	0.0155	0.0145	0.0002	0.0007	0.0008	2.519e-05	0.0005	0.0184	0.0004	0.0007	6.958e-05	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0002	0.0002	7.22e-05	0	0.0005	0.0012	0	0.0006	0.0034	0.0003	0	0	0.338	0.14743	T	0.628	0.12351	T	0.209	0.29944	B	0.028	0.21332	B	0.000432	0.44522	D	0.230390	0.999943	0.51968	D	1.495	0.37439	L	1.5	0.31205	T	-1.91	0.44471	N	0.376	0.41754	-1.0882	0.05839	T	0.049	0.20789	T	10	0.04287961	0.03081	T	0.011395	0.28966	T	0.052	0.14661	.	.	0.417586769301	0.41374	0.48113192009285644	0.48033	0.113003848232	0.12758	0.551841974258	0.46117	T	0.068948	0.33586	T	-0.411469	0.01944	T	-0.463524	0.26216	T	0.0378089366859491	0.03299	T	0.824018	0.48536	T	0.10496916	0.24816	0.106903814	0.25727	0.10496916	0.24816	0.106903814	0.25726	-8.566	0.66551	D	.	.	0.130	0.37445	B	.;.;.;.	.;.;.;.	2.646161	0.34442	19.63	0.99012786510645634	0.50399	0.55225	0.29811	D	AEFBI	0.142052	0.26439	N	-0.497832587276915	0.22151	1.180802	-0.500824956574363	0.22131	1.200569	0.00758309322979938	0.11500	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.28	2.01	0.25568	3.545000	0.53401	7.611000	0.61914	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.045000	0.14751	0.1643:0.1467:0.689:0.0	6.750	0.22671	929	0.16858	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	905.98	36	chr22	50108204	.	G	A	905.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=755;ExcessHet=0.0000;FS=0.975;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.85;ReadPosRankSum=0.051;SOR=0.752	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1317	20	0	1	0
chr22	50201141	50201141	C	G	exonic	SELENOO	.	unknown	UNKNOWN,	.	.	434	1059	25	4	0	33	0.0153417	.	.	2819745	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00299521	0.0137	0.0714	0	0	.	0.0259	0	0.0100	0.0008926	138	154602	rs528120489	0.0072	0.0065	0.0071	0.0073	0.0224	0.0071	0.0070	0.0183	0.0167	0.0011	0.0048	0.0202	3.802e-05	0.0066	0.0224	0.0073	0.0073	0.0065	0.0059	0.0059	0.0059	0.0059	0.0076	0.0056	0.0054	0.0070	0.0068	0.0013	0	0.0074	0.0213	0.0010	0.0076	0.0207	0.0076	0.0067	0.0072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	369.11	13	chr22	50201141	.	C	G	369.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.263;DP=639;ExcessHet=0.1072;FS=1.397;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=1.00;SOR=0.430	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,820	19	0	2	0
chr22	50217080	50217080	C	T	exonic	SELENOO	.	unknown	UNKNOWN,	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.479e-06	0	0	0	0	1.546e-05	0	0	1.29e-05	2	154602	rs760383196	5.066e-05	5.062e-05	4.224e-05	5.917e-05	0.0028	4.129e-05	3.781e-05	0.0017	0.0014	5.974e-05	4.473e-05	0	0	1.912e-05	0.0028	3.867e-05	9.938e-05	4.637e-05	2.625e-05	2.624e-05	1.284e-05	4.027e-05	0.0002	8.13e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2202.98	43	chr22	50217080	.	C	T	2202.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.696e+00;DP=1013;ExcessHet=0.0000;FS=0.485;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.66;ReadPosRankSum=-6.310e-01;SOR=0.655	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chr22	50261196	50261196	G	A	exonic	MAPK12	.	nonsynonymous SNV	MAPK12:NM_001303252:exon2:c.C226T:p.R76C	.	.	417	1089	16	0	0	16	0.00729262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.004	U	1.000	D	1.225	L	-0.24	T	-0.345	T	0.351	T	0.649	4.487	24.0	3.9	2.017	1.295	11.029	0.407	0.858093496087	0.0008	0.000599042	0.0021	0.0007	0.0020	0	0.0006	0.0030	0.0044	0.0010	0.0010931	169	154602	rs138533200	0.0009	0.0009	0.0009	0.0009	0.0248	0.0008	0.0008	0.0215	0.0202	0.0008	0.0012	0.0041	2.643e-05	1.973e-05	0.0248	0.0007	0.0023	0.0009	0.0010	0.0010	0.0009	0.0010	0.0023	0.0008	0.0008	0.0017	0.0015	0.0003	0	0.0023	0.0043	0	0	0.0204	0.0010	0.0019	0.0010	0.012	0.57480	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.004312	0.33881	U	0.000000	1	0.81001	D	1.815	0.47718	L	-0.24	0.66834	T	-6.23	0.90530	D	0.735	0.73555	-0.3450	0.73699	T	0.351	0.71525	T	10	0.066975355	0.09263	T	0.858093	0.98909	D	0.407	0.71946	.	.	0.823601361403	0.82193	0.5844710984958643	0.58377	0.695200239805	0.60803	0.902423501015	0.96704	D	0.363801	0.72949	T	-0.193926	0.21683	T	-0.0918716	0.64021	T	0.0904900214451298	0.11276	T	0.760924	0.43272	T	0.7570611	0.81280	0.65741473	0.79937	0.7570611	0.81282	0.65741473	0.79938	-13.563	0.92037	D	.	.	0.172	0.53785	B	.;.;.	.;.;.	6.002999	0.94312	34	0.99895537334446627	0.96895	0.89178	0.49488	D	ALL	0.539546	0.55648	D	0.422418793194856	0.62657	4.485218	0.381455693999127	0.60420	4.229597	0.999999999998644	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	3.9	3.9	0.44240	2.949000	0.48766	8.134000	0.76663	0.668000	0.69082	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8138:0.1862	11.029	0.46977	624	0.65661	.;Protein kinase domain|Mitogen-activated protein (MAP) kinase, conserved site|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1691.11	34	chr22	50261196	.	G	A	1691.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.761;DP=821;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.74;ReadPosRankSum=0.117;SOR=0.673	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,120,1800	19	0	2	0
chr22	50266287	50266287	C	T	exonic	MAPK11	.	nonsynonymous SNV	MAPK11:NM_002751:exon9:c.G701A:p.R234H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.359	B	0.044	B	0.000	U	1.000	D	1.165	L	-0.2	T	-0.901	T	0.137	T	0.523	2.927	15.75	4.37	2.016	1.332	8.318	0.231	0.0381893486455	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200495263	9.618e-06	1.573e-05	8.196e-06	1.106e-05	5.052e-05	5.58e-06	4.37e-06	8.37e-06	3.13e-06	0	2.265e-05	0	5.052e-05	0	0	5.409e-06	4.992e-05	2.348e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.467	0.12351	T	0.359	0.33845	B	0.044	0.24394	B	0.000000	0.84330	U	0.000000	0.999999	0.81001	D	1.495	0.37439	L	-0.2	0.66113	T	-3.17	0.64363	D	0.231	0.25989	-0.9010	0.47889	T	0.137	0.45356	T	10	0.22515908	0.39338	T	0.038189	0.58072	D	0.231	0.53208	0.438	0.49157	0.686079328405	0.68339	0.608319583184939	0.60763	0.994184421241	0.74165	0.863263785839	0.91592	D	0.34313	0.71181	T	-0.0128976	0.49858	T	-0.256303	0.49193	T	0.619496285915375	0.37185	D	.	.	.	0.58685356	0.71981	0.4632513	0.68840	0.58685356	0.71982	0.4632513	0.68841	-9.983	0.73810	D	.	.	0.137	0.29968	B	.	.	4.844746	0.79132	27.0	0.99699059910291143	0.80522	0.76229	0.37371	D	AEFBI	0.219843	0.34467	N	-0.0794091195089987	0.38296	2.24081	0.0359321588933407	0.41396	2.486347	0.999375639789982	0.39355	0.706298	0.61202	0	0.709663	0.81188	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.37	4.37	0.51830	1.320000	0.33272	2.613000	0.33588	0.547000	0.25779	0.566000	0.27473	0.992000	0.31684	0.998000	0.85391	0.0:0.8897:0.0:0.1103	8.318	0.31272	624	0.65661	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1180.98	33	chr22	50266287	.	C	T	1180.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.019;DP=902;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=-3.770e-01;SOR=0.684	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,114,1710	20	0	1	0
chr22	50277967	50277967	G	A	exonic	PLXNB2	.	nonsynonymous SNV	PLXNB2:NM_001376869:exon31:c.C4934T:p.A1645V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.765	P	0.196	B	0.016	N	0.555	N	1.04	L	2.41	T	-1.055	T	0.029	T	0.205	1.930	12.41	4.08	2.254	3.835	10.148	0.094	0.0138489545171	.	.	8.385e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs778176391	2.054e-06	2.736e-06	2.725e-06	1.376e-06	1.159e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	1.159e-05	1.313e-05	1.312e-05	0	2.685e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	0.01	0.72154	D	0.019	0.59159	D	0.765	0.43734	P	0.196	0.36635	B	0.015614	0.28199	N	0.291451	0.555352	0.31300	N	0.69	0.16971	N	2.25	0.17761	T	-2.42	0.57599	N	0.441	0.47949	-1.0553	0.12961	T	0.029	0.12453	T	10	0.49063352	0.60970	T	0.013849	0.33560	T	0.094	0.27141	0.769	0.89609	0.20808081866	0.20439	0.3652820736137257	0.36442	1.12703149	0.78481	0.570133209229	0.48696	T	0.16485	0.51047	T	-0.272983	0.11426	T	-0.533043	0.18985	T	0.456540293928899	0.31038	T	0.934707	0.75503	D	0.10923419	0.25826	0.1403891	0.33465	0.10923419	0.25826	0.1403891	0.33464	-5.217	0.39114	T	.	.	0.092	0.16494	B	.;.;.	.;.;.	3.717189	0.53094	23.3	0.99692601718143281	0.80044	0.88203	0.48027	D	AEFDGBCIJ	0.749067	0.69062	D	0.0330417165173814	0.43362	2.631	0.0503978236987837	0.42090	2.539888	0.999632961576472	0.41205	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.08	4.08	0.46880	2.935000	0.48657	4.944000	0.46233	0.604000	0.46097	0.997000	0.40164	1.000000	0.68203	0.234000	0.22842	0.0:0.0:0.65:0.35	10.148	0.41949	616	0.66398	Plexin, cytoplasmic RasGAP domain;Plexin, cytoplasmic RasGAP domain;Plexin, cytoplasmic RasGAP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2394.98	39	chr22	50277967	.	G	A	2394.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=1036;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.61;ReadPosRankSum=-2.460e-01;SOR=0.685	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chr22	50283844	50283844	C	T	exonic	PLXNB2	.	nonsynonymous SNV	PLXNB2:NM_001376869:exon13:c.G2410A:p.V804I	.	.	.	.	.	.	.	.	.	.	.	2758491	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.18	T	0.982	D	0.593	P	0.046	N	0.970	N	1.32	L	-1.06	T	-0.537	T	0.377	T	0.199	2.988	15.96	4.53	2.349	0.051	12.617	0.282	0.0610915042543	0.0002	.	0.0001	0	0	0	0	0.0002	0	0	0.00011	17	154602	rs370412897	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	2.994e-05	6.769e-05	0	0	7.612e-05	0	0.0002	0.0001	3.503e-05	9.217e-05	9.197e-05	0.0001	6.742e-05	0.0002	5.538e-05	4.373e-05	0.0001	8.886e-05	0	0.0011	0	0	0	0	0	0.0002	0	0	0.198	0.20532	T	0.265	0.22694	T	0.982	0.60036	D	0.593	0.50536	P	0.046398	0.23444	N	0.309092	0.969678	0.25742	N	2.385	0.68708	M	-1.06	0.76819	T	-0.38	0.13418	N	0.402	0.44283	-0.5375	0.67258	T	0.377	0.73453	T	10	0.23403144	0.40434	T	0.061092	0.68219	D	0.282	0.59981	.	.	0.566519228123	0.56316	0.2681231702254371	0.26725	0.383503995499	0.39674	0.535775959492	0.43849	T	0.151054	0.49082	T	-0.263376	0.12509	T	-0.341798	0.40140	T	0.0791994439550167	0.09884	T	0.855414	0.54290	D	0.13010325	0.30366	0.09696632	0.23061	0.13010325	0.30366	0.09696632	0.23060	-4.875	0.35453	T	.	.	0.081	0.08081	B	.;.	.;.	2.719854	0.35575	19.93	0.99740802392350847	0.83482	0.30942	0.24211	N	AEFDBI	0.166320	0.29290	N	0.0549185789867772	0.44370	2.712238	0.0123038679393983	0.40285	2.401761	0.996962479968142	0.35156	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.53	4.53	0.55009	1.293000	0.32959	1.037000	0.23526	0.545000	0.25583	0.187000	0.24151	0.473000	0.25062	0.522000	0.29520	0.0:1.0:0.0:0.0	12.617	0.55940	616	0.66398	IPT domain|IPT domain;IPT domain|IPT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1549.98	47	chr22	50283844	.	C	T	1549.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.86;DP=970;ExcessHet=0.0000;FS=2.310;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=-1.993e+00;SOR=0.947	GT:AD:DP:GQ:PL	0/1:63,62:125:99:1564,0,1449	20	0	1	0
chr22	50286251	50286251	C	T	exonic	PLXNB2	.	nonsynonymous SNV	PLXNB2:NM_001376869:exon8:c.G1799A:p.R600Q	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.049	B	0.007	B	0.839	N	1.000	N	1.5	L	4.01	T	-0.966	T	0.010	T	0.071	1.512	11.01	-8.0	-1.908	-0.816	12.719	0.063	0.0159492683888	.	.	3.34e-05	0.0001	8.657e-05	0	0	1.518e-05	0	6.058e-05	3.23e-05	5	154602	rs756708347	1.164e-05	1.163e-05	6.811e-06	1.651e-05	6.709e-05	7.09e-06	5.8e-06	1.779e-05	8.93e-06	0	6.709e-05	0	0	0	0	9.893e-06	0	3.478e-05	4.597e-05	4.593e-05	2.57e-05	6.715e-05	0.0004	2.108e-05	1.526e-05	7.29e-05	3.029e-05	7.219e-05	0	0	0	0	0	0	2.941e-05	0	0.0004	0.382	0.11120	T	0.585	0.08361	T	0.049	0.22227	B	0.007	0.12992	B	0.838540	0.06985	N	1.094830	1	0.08975	N	2.3	0.65703	M	4.01	0.03208	T	0.1	0.05810	N	0.085	0.06454	-0.9659	0.38033	T	0.010	0.03765	T	10	0.061506897	0.07721	T	0.015949	0.36960	T	0.063	0.18251	0.555	0.67271	0.554581087438	0.55116	0.21777045685103869	0.21693	0.368334777658	0.38387	0.22262892127	0.01467	T	0.081725	0.36664	T	-0.511696	0.00491	T	-0.770139	0.02763	T	0.0515380375099704	0.05769	T	0.466753	0.13720	T	0.020768749	0.00649	0.031148836	0.01664	0.020768749	0.00648	0.031148836	0.01664	-5.644	0.43192	T	.	.	0.066	0.02702	B	.;.	.;.	-0.363523	0.02352	0.255	0.91074765759006271	0.20327	0.04026	0.09460	N	AEFBCI	0.091967	0.18623	N	-1.55770566300801	0.01490	0.06505043	-1.71218938072808	0.01084	0.04869958	0.999993734126182	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.0	-8.0	0.00995	-2.019000	0.01531	-4.358000	0.02198	-1.780000	0.00653	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3097:0.0:0.6903	12.719	0.56500	616	0.66398	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1077.98	41	chr22	50286251	.	C	T	1077.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.822;DP=1016;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=-2.170e-01;SOR=0.624	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chr22	50289061	50289061	C	T	exonic	PLXNB2	.	nonsynonymous SNV	PLXNB2:NM_001376869:exon3:c.G1150A:p.V384M	.	.	423	1093	6	0	0	6	0.00273723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.668	P	0.228	B	0.224	N	1.000	N	2.305	M	3.47	T	-1.051	T	0.035	T	0.3	2.145	13.13	0.886	0.507	-0.114	5.889	0.074	0.0309045049067	.	0.000798722	0.0010	0	9.351e-05	0	0	0.0001	0	0.0066	0.0007438	115	154602	rs573754705	0.0004	0.0004	0.0002	0.0006	0.0058	0.0004	0.0004	0.0054	0.0053	0	0.0001	0	0	0	0.0019	2.706e-05	0.0004	0.0058	0.0002	0.0002	7.71e-05	0.0004	0.0062	0.0002	0.0001	0.0045	0.0039	2.407e-05	0	0	0	0	0	0	2.941e-05	0	0.0062	0.019	0.91255	D	0.01	0.65728	D	0.668	0.41123	P	0.228	0.38116	B	0.223651	0.16080	N	0.510406	0.999998	0.08975	N	2.34	0.67151	M	2.73	0.11839	T	-0.52	0.25770	N	0.179	0.19861	-1.0508	0.14175	T	0.035	0.15291	T	10	0.011398971	0.00249	T	0.030905	0.53115	D	0.074	0.21613	0.485	0.56780	0.176862962021	0.17281	0.826443487406513	0.82602	0.413463600646	0.42051	0.654582858086	0.60636	T	0.097228	0.39983	T	-0.515717	0.00466	T	-0.510678	0.21246	T	0.0267854002017389	0.01514	T	0.720728	0.37327	T	0.05671701	0.11194	0.069095105	0.14514	0.05671701	0.11194	0.069095105	0.14514	-7.303	0.56217	T	.	.	0.122	0.36275	B	.;.;.;.	.;.;.;.	2.501842	0.32295	19.00	0.99776047130093859	0.86346	0.10569	0.16039	N	AEFBI	0.134413	0.25441	N	-0.342022455336561	0.27567	1.513458	-0.465885077910361	0.23099	1.258007	0.982499819187138	0.30407	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.28	0.886	0.18329	-0.296000	0.08323	0.084000	0.14428	0.583000	0.30283	0.000000	0.06391	0.002000	0.18203	0.414000	0.27095	0.1275:0.5617:0.234:0.0767	5.889	0.18146	633	0.64743	Sema domain|Sema domain|Sema domain;Sema domain|Sema domain|Sema domain;.;Sema domain|Sema domain|Sema domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1207.98	38	chr22	50289061	.	C	T	1207.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.76;DP=832;ExcessHet=0.0000;FS=2.621;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.60;ReadPosRankSum=-7.140e-01;SOR=0.460	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1201	20	0	1	0
chr22	50447194	50447194	G	A	exonic	SBF1	.	nonsynonymous SNV	SBF1:NM_001365819:exon40:c.C5555T:p.P1852L	Charcot-Marie-Tooth disease, type 4B3, Autosomal recessive	.	404	1098	20	0	0	20	0.00902527	.	.	729299	not_provided|SBF1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.32	T	0.002	B	0.007	B	0.399	N	0.986	N	0.245	N	2.74	T	-0.977	T	0.015	T	0.422	1.000	9.083	1.13	0.809	0.027	0.574	0.105	.	0.0006	0.000399361	0.0009	0.0001	0.0006	0	0.0003	0.0008	0.0048	0.0023	0.0007568	117	154602	rs200103683	0.0010	0.0010	0.0010	0.0011	0.0033	0.0010	0.0010	0.0024	0.0023	0.0003	0.0008	0.0006	2.519e-05	1.886e-05	0.0033	0.0010	0.0014	0.0027	0.0009	0.0009	0.0007	0.0010	0.0021	0.0007	0.0007	0.0011	0.0009	0.0002	0.0253	0.0007	0.0009	0	0	0.0136	0.0010	0.0009	0.0021	0.362	0.11844	T	0.309	0.19782	T	.	.	.	.	.	.	0.398856	0.13153	N	0.703897	0.991333	0.24688	N	.	.	.	2.74	0.11730	T	-2.18	0.49187	N	0.114	0.18920	-0.9768	0.35727	T	0.015	0.05897	T	10	0.005461335	0.00120	T	.	.	.	0.105	0.29889	.	.	0.187035705434	0.18338	0.20266938833719525	0.20183	.	.	0.519870519638	0.41609	T	.	.	.	-0.512535	0.00486	T	-0.515473	0.20754	T	0.0172567476001579	0.00467	T	0.906409	0.67021	D	0.04857597	0.08489	0.067611955	0.14011	0.06464465	0.13736	0.06420602	0.12833	-2.905	0.09193	T	0.06474752917698337	0.02085	0.063	0.01738	B	.;.	.;.	2.131483	0.27137	17.36	0.93772909762678169	0.23726	0.07198	0.13223	N	AEFBHCI	0.077809	0.15685	N	-0.740126023486508	0.14903	0.7463937	-0.651050162122238	0.18190	0.9706369	0.864910583223825	0.25299	0.67177	0.52595	0	0.702456	0.74545	0	0.779548	0.98927	0	0.711	0.71501	0	.	.	3.51	1.13	0.19758	-0.011000	0.12659	1.865000	0.29348	0.672000	0.70159	0.001000	0.13787	1.000000	0.68203	0.993000	0.69303	0.2041:0.1665:0.337:0.2924	0.574	0.00655	819	0.41190	.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	1818.08	35	chr22	50447194	.	G	A	1818.08	.	AC=2;AF=0.048;AN=42;DP=743;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.92;SOR=2.170	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1217	20	1	0	0
chr22	50454628	50454628	G	T	exonic	SBF1	.	nonsynonymous SNV	SBF1:NM_001365819:exon35:c.C4852A:p.P1618T	Charcot-Marie-Tooth disease, type 4B3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	717549	Tip-toe_gait|Charcot-Marie-Tooth_disease_type_4B3|SBF1-related_disorder|not_provided	Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144|MONDO:MONDO:0014117,MedGen:C3695063,OMIM:615284,Orphanet:363981|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.49	T	0.023	B	0.013	B	0.453	N	0.928	D	0.55	N	-2.04	D	-0.838	T	0.170	T	0.307	0.601	7.239	4.54	2.236	1.543	17.245	0.115	0.0437406740935	0.0017	0.000599042	0.0022	0.0007	0.0002	0	0.0055	0.0032	0	0	0.0020634	319	154602	rs202049257	0.0024	0.0024	0.0025	0.0023	0.0027	0.0023	0.0023	0.0027	0.0026	0.0005	0.0003	0	0	0.0061	0.0004	0.0027	0.0018	1.177e-05	0.0022	0.0022	0.0024	0.0020	0.0037	0.0020	0.0019	0.0033	0.0031	0.0005	0	0.0005	0	0	0.0055	0	0.0037	0.0009	0	0.235	0.18000	T	0.615	0.07568	T	.	.	.	.	.	.	0.453146	0.12482	N	0.763371	0.927782	0.36875	D	.	.	.	-2.04	0.85703	D	-1.11	0.31576	N	0.26	0.30347	-0.8382	0.52766	T	0.170	0.51020	T	10	0.0064341426	0.00146	T	0.043741	0.61141	D	0.251	0.56024	.	.	0.497580052145	0.49393	0.4214633360116159	0.42062	.	.	0.586868405342	0.51052	T	0.095584	0.39651	T	-0.338669	0.05481	T	-0.258297	0.48994	T	0.00907645746739165	0.00114	T	0.917108	0.70302	D	0.06418768	0.13594	0.07245518	0.15633	0.09346137	0.21952	0.06196282	0.12048	-4.702	0.33979	T	0.10922276743256756	0.09094	0.068	0.02927	B	.;.	.;.	2.744067	0.35953	20.1	0.92291183683565703	0.21679	0.55375	0.29848	D	AEFBI	0.326873	0.42801	N	-0.216153502128315	0.32470	1.831566	-0.209377640856524	0.31197	1.763386	0.992952702258691	0.33030	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.54	4.54	0.55220	1.471000	0.34973	7.387000	0.58489	0.672000	0.70159	0.302000	0.25342	1.000000	0.68203	0.044000	0.14658	0.0:0.0:1.0:0.0	17.245	0.86911	819	0.41190	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	904.98	33	chr22	50454628	.	G	T	904.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.285e+00;DP=790;ExcessHet=0.0000;FS=0.795;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.06;ReadPosRankSum=-5.380e-01;SOR=0.546	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1171	20	0	1	0
chr22	50482876	50482876	C	A	exonic	ADM2	.	nonsynonymous SNV	ADM2:NM_001369882:exon2:c.C420A:p.D140E	.	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.636	P	0.312	B	.	.	0.716	N	1.795	L	1.9	T	-0.970	T	0.117	T	0.064	3.987	20.4	2.5	0.363	0.249	3.924	0.025	0.0257302017427	0.0005	.	0.0022	0.0002	0.0008	0	0	0.0036	0	0.0013	0.0013001	201	154602	rs199634529	0.0014	0.0014	0.0014	0.0015	0.0028	0.0014	0.0014	0.0017	0.0015	0.0003	0.0004	0.0009	0	0.0001	0.0028	0.0016	0.0013	0.0012	0.0013	0.0013	0.0014	0.0012	0.0021	0.0011	0.0011	0.0017	0.0016	0.0003	0.0286	0.0003	0.0012	0	0	0.0034	0.0020	0.0014	0.0021	0.058	0.37750	T	0.198	0.27767	T	0.636	0.40327	P	0.312	0.41466	B	.	.	.	.	0.716004	0.29968	N	2.215	0.62545	M	1.9	0.23486	T	-1.68	0.40082	N	0.041	0.13341	-0.9700	0.37200	T	0.117	0.41142	T	9	0.006729543	0.00153	T	0.02573	0.48684	D	0.035	0.08770	0.179	0.08626	0.107399877778	0.10242	0.1434588839463422	0.14268	0.350262262539	0.36871	0.451337784529	0.32127	T	0.014533	0.12356	T	-0.613853	0.00120	T	-0.660392	0.08240	T	0.0296979975305053	0.01944	T	0.859314	0.55085	D	0.2307563	0.45836	0.13396005	0.32112	0.2307563	0.45836	0.13396005	0.32111	-3.21	0.12603	T	.	.	0.692	0.72634	P	.;.	.;.	3.377689	0.46700	22.3	0.99657743118979814	0.77757	0.86373	0.45640	D	AEFBI	0.315201	0.41984	N	0.000489604226521251	0.41878	2.512858	-0.000701824469610451	0.39685	2.356736	0.999814632580262	0.43459	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.62	2.5	0.29355	0.368000	0.20132	1.648000	0.27829	0.438000	0.21043	0.986000	0.36153	1.000000	0.68203	0.972000	0.54974	0.1872:0.6026:0.0:0.2102	3.924	0.08756	784	0.47045	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	304.98	38	chr22	50482876	.	C	A	304.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.290e-01;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.26;ReadPosRankSum=1.14;SOR=0.569	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1088	20	0	1	0
chr22	50487705	50487705	T	C	exonic	MIOX	.	nonsynonymous SNV	MIOX:NM_017584:exon3:c.T140C:p.M47T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	1.0	D	0.000	D	1.000	D	2.675	M	.	.	-0.161	T	0.429	T	0.835	3.693	18.76	4.38	1.819	7.331	11.581	0.381	0.0615648066977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.737e-06	2.736e-06	2.723e-06	2.751e-06	1.159e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.35537	T	0.005	0.72224	D	1.0	0.90584	D	0.987	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.92	0.84325	M	.	.	.	-5.45	0.85921	D	0.707	0.91391	-0.1609	0.78648	T	0.429	0.77134	T	9	0.78939784	0.78528	D	0.061565	0.68372	D	0.381	0.69863	0.639	0.77579	0.163833314356	0.15978	0.7740331886888138	0.77353	0.374716141167	0.38933	0.716704249382	0.69567	T	0.350612	0.71831	T	0.311291	0.83841	D	0.209372	0.83631	D	0.996178865432739	0.88812	D	0.922808	0.77472	D	0.5296551	0.68811	0.5893773	0.76178	0.5296551	0.68812	0.5893773	0.76179	-1.677	0.68849	T	.	.	0.994	0.94938	P	.;.;.;.	.;.;.;.	4.858446	0.79476	27.1	0.98662610176276078	0.44358	0.99158	0.92083	D	AEFDBI	0.871896	0.79351	D	0.706910253518293	0.80085	7.216951	0.63502404553729	0.77499	6.691334	0.999999999667572	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.38	4.38	0.52019	7.396000	0.79154	7.698000	0.66136	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	11.581	0.50145	794	0.45591	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2335.98	35	chr22	50487705	.	T	C	2335.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.109e+00;DP=1019;ExcessHet=0.0000;FS=1.085;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=0.214;SOR=0.584	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1326	20	0	1	0
chr22	50503527	50503527	G	A	exonic	LMF2	.	nonsynonymous SNV	LMF2:NM_001363816:exon14:c.C1913T:p.S638F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.925	P	0.568	P	0.254	N	1.000	N	1.78	L	1.86	T	-1.020	T	0.135	T	0.28	2.564	14.53	3.25	0.726	0.941	7.729	0.061	0.0146277664809	.	.	3.47e-05	0	0	0	0	4.088e-05	0	8.358e-05	2.59e-05	4	154602	rs747486508	2.185e-05	2.531e-05	1.678e-05	2.7e-05	0.0011	1.566e-05	1.364e-05	0.0005	0.0003	3.193e-05	0.0001	0	0	0	0.0011	1.462e-05	0	4.93e-05	1.972e-05	1.97e-05	1.285e-05	2.691e-05	2.941e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.415e-05	0	0	0	0	0	0	2.941e-05	0	0	0.01	0.56456	D	0.046	0.49390	D	0.877	0.51395	P	0.365	0.49807	B	0.253710	0.03663	N	1.554520	1	0.08975	N	1.895	0.50365	L	1.86	0.24472	T	-1.2	0.30555	N	0.158	0.19995	-1.0201	0.23682	T	0.135	0.45010	T	10	0.14326912	0.27203	T	0.014628	0.34872	T	0.061	0.17616	0.26	0.20315	0.0551355673512	0.04727	0.24701235341663358	0.24615	.	.	0.393734276295	0.24194	T	0.020325	0.16021	T	-0.36382	0.03918	T	-0.49595	0.22769	T	0.0585390529944014	0.06937	T	0.589041	0.21605	T	0.047969166	0.08288	0.07099088	0.15149	0.047969166	0.08287	0.07099088	0.15149	-6.514	0.50394	T	.	.	0.113	0.22391	B	.;.	.;.	2.077095	0.26416	17.11	0.9958770382110812	0.73395	0.08468	0.14393	N	AEFBI	0.119040	0.23251	N	-0.270973116503605	0.30274	1.68651	-0.423969893173597	0.24297	1.329671	0.998231339248184	0.36618	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.36	3.25	0.36363	0.666000	0.24779	2.515000	0.33093	0.676000	0.76740	0.001000	0.13787	0.082000	0.22400	0.015000	0.10482	0.0883:0.1641:0.7476:0.0	7.729	0.27944	726	0.54788	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1051.98	34	chr22	50503527	.	G	A	1051.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.87;DP=774;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.53;ReadPosRankSum=-2.170e-01;SOR=0.681	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1040	20	0	1	0
chr22	50504912	50504912	C	T	exonic	LMF2	.	nonsynonymous SNV	LMF2:NM_001363816:exon10:c.G1252A:p.V418M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.907	P	0.305	B	0.000	D	1.000	D	2.83	M	1.81	T	-0.833	T	0.097	T	0.585	3.853	19.57	4.85	2.230	4.211	15.451	0.235	0.0389883282556	.	.	1.982e-05	0	0	0	0	1.819e-05	0	6.493e-05	1.29e-05	2	154602	rs772539862	1.236e-05	1.231e-05	1.366e-05	1.105e-05	0.0002	7.73e-06	6.38e-06	8.12e-06	6.44e-06	0	0	0	2.538e-05	0	0.0002	1.352e-05	0	1.164e-05	6.565e-06	6.561e-06	0	1.343e-05	2.406e-05	0	0	.	.	2.406e-05	0	0	0	0	0	0	0	0	0	0.026	0.46910	D	0.011	0.64786	D	0.907	0.50062	P	0.305	0.41207	B	0.000000	0.84330	D	0.000000	0.997764	0.81001	D	2.635	0.77114	M	1.81	0.25182	T	-1.37	0.33998	N	0.406	0.48780	-0.8331	0.53100	T	0.097	0.36367	T	10	0.27808064	0.45377	T	0.038988	0.58547	D	0.235	0.53788	.	.	0.0297737177859	0.01360	0.6676074119343035	0.66698	.	.	0.716506242752	0.69537	T	0.045991	0.27290	T	-0.126641	0.32040	T	-0.319057	0.42678	T	0.772834718227386	0.44610	D	0.756924	0.38041	T	0.13877971	0.32083	0.13258493	0.31811	0.13877971	0.32083	0.13258493	0.31810	-9.752	0.72414	D	.	.	0.141	0.30817	B	.;.	.;.	3.467374	0.48358	22.6	0.9985757587085784	0.93639	0.97643	0.76109	D	AEFBI	0.737559	0.68271	D	0.451048562831737	0.64264	4.676879	0.43827233767823	0.63968	4.641512	0.999999971664555	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.85	4.85	0.62375	3.579000	0.53645	5.850000	0.50329	0.599000	0.40250	0.994000	0.38300	1.000000	0.68203	0.176000	0.21171	0.0:1.0:0.0:0.0	15.451	0.75004	721	0.55360	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1235.98	33	chr22	50504912	.	C	T	1235.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=1196;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.65;ReadPosRankSum=2.21;SOR=0.602	GT:AD:DP:GQ:PL	0/0:65,0:65:99:0,120,1800	20	0	1	0
chr22	50505077	50505077	C	T	exonic	LMF2	.	nonsynonymous SNV	LMF2:NM_001363816:exon9:c.G1159A:p.A387T	.	.	408	1107	5	2	0	9	0.00404858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.828	P	0.394	B	0.012	N	1.000	D	2.01	M	1.81	T	-0.809	T	0.191	T	0.317	1.848	12.14	2.68	0.397	0.457	10.238	0.104	.	0.0074	0.00119808	0.0059	0.0006	0.0021	0	0.0048	0.0096	0.0034	0.0010	0.0060543	936	154602	rs9616787	0.0083	0.0083	0.0085	0.0081	0.0101	0.0082	0.0081	0.0100	0.0099	0.0012	0.0020	0.0019	0	0.0044	0.0033	0.0101	0.0060	0.0007	0.0057	0.0057	0.0063	0.0050	0.0096	0.0054	0.0052	0.0090	0.0087	0.0017	0.0110	0.0030	0.0023	0.0002	0.0063	0	0.0096	0.0033	0.0010	0.258	0.16683	T	0.415	0.15059	T	0.238	0.46021	B	0.257	0.44277	B	0.012128	0.29280	N	0.303175	0.902714	0.81001	D	2.325	0.66631	M	1.81	0.25182	T	-1.14	0.29323	N	0.268	0.32037	-0.8088	0.54623	T	0.191	0.54345	T	10	0.006005347	0.00135	T	.	.	.	0.104	0.29647	.	.	0.0138822411134	0.00435	0.5831844569749229	0.58247	.	.	0.346570730209	0.17416	T	0.030455	0.21583	T	-0.50462	0.00538	T	-0.484003	0.24022	T	0.00796680398669748	0.00094	T	0.631037	0.24617	T	0.024529928	0.01293	0.06107986	0.11737	0.024529928	0.01293	0.06107986	0.11737	-5.892	0.45520	T	.	.	0.076	0.06114	B	.;.	.;.	1.188012	0.15789	12.10	0.99005370156509487	0.50252	0.22938	0.21912	N	AEFBI	0.387503	0.46746	N	-0.45325823712363	0.23629	1.270275	-0.536581296772941	0.21163	1.143558	0.999900028257749	0.45458	0.706548	0.73137	0	0.697927	0.68747	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.85	2.68	0.30839	0.322000	0.19323	1.768000	0.28610	-0.256000	0.07045	0.001000	0.13787	1.000000	0.68203	0.202000	0.21954	0.3891:0.6109:0.0:0.0	10.238	0.42474	721	0.55360	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2374.98	33	chr22	50505077	.	C	T	2374.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.825e+00;DP=1135;ExcessHet=0.0000;FS=1.166;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=0.528;SOR=0.825	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,120,1800	20	0	1	0
chr22	50518185	50518185	G	A	exonic	NCAPH2	.	nonsynonymous SNV	NCAPH2:NM_001185011:exon7:c.G553A:p.V185I	.	.	418	1099	5	0	0	5	0.00226963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.002	B	0.002	B	0.303	N	1.000	N	-0.895	N	.	.	-0.990	T	0.026	T	0.14	0.729	7.873	2.83	0.824	2.248	6.741	0.102	.	7.7e-05	0.00239617	0.0015	9.667e-05	0.0003	0.0007	0	0.0002	0.0011	0.0095	0.0013066	202	154602	rs141520277	0.0007	0.0007	0.0004	0.0010	0.0097	0.0007	0.0007	0.0091	0.0089	2.987e-05	0.0002	0	0.0004	0.0001	0.0007	9.892e-05	0.0009	0.0097	0.0004	0.0004	0.0002	0.0007	0.0089	0.0004	0.0003	0.0068	0.0061	0.0001	0	0.0005	0	0.0002	9.413e-05	0	0.0002	0	0.0089	0.441	0.10482	T	0.662	0.10317	T	0.002	0.09854	B	0.002	0.06944	B	0.302923	0.14566	N	0.680496	0.999956	0.19072	N	-0.55	0.02420	N	.	.	.	-0.25	0.12661	N	0.115	0.12484	-0.9903	0.32525	T	0.026	0.11309	T	9	0.0058460534	0.00131	T	.	.	.	0.102	0.29158	.	.	0.043077524339	0.03247	0.15264807490715637	0.15186	0.0876526127641	0.09892	0.26955395937	0.06083	T	0.062638	0.31969	T	-0.530691	0.00380	T	-0.527401	0.19548	T	0.0134559734271834	0.00245	T	0.526647	0.21331	T	0.016304871	0.00189	0.020559615	0.00142	0.016304871	0.00189	0.020559615	0.00142	-4.001	0.30229	T	.	.	0.067	0.06205	B	.;.;.;.;.	.;.;.;.;.	2.317690	0.29672	18.20	0.90085364007390722	0.19369	0.22735	0.21846	N	AEFBCI	0.034646	0.04329	N	-0.986672695720712	0.08887	0.4184748	-0.77080244989161	0.15211	0.7989128	0.995998143665359	0.34457	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.23	2.83	0.32150	2.972000	0.48948	3.962000	0.40756	-0.105000	0.15698	0.989000	0.36753	0.994000	0.32194	0.138000	0.19872	0.765:0.1521:0.0829:0.0	6.741	0.22623	641	0.64016	Condensin II complex subunit H2, middle domain;.;Condensin II complex subunit H2, middle domain;Condensin II complex subunit H2, middle domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1227.98	34	chr22	50518185	.	G	A	1227.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.718;DP=832;ExcessHet=0.0000;FS=2.510;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.37;ReadPosRankSum=-6.340e-01;SOR=0.464	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,101,1375	20	0	1	0
chr22	50521592	50521592	C	G	exonic	NCAPH2	.	nonsynonymous SNV	NCAPH2:NM_001185011:exon11:c.C983G:p.S328C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.997	D	0.923	D	0.016	N	1.000	N	2.075	M	.	.	-0.980	T	0.179	T	0.233	3.001	16.01	2.81	2.339	3.251	6.716	0.098	0.00931762138245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.023	0.57104	D	0.995	0.67487	D	0.923	0.65830	D	0.015583	0.28205	N	0.340811	1	0.08975	N	2.56	0.74772	M	.	.	.	-2.73	0.58085	D	0.387	0.43029	-0.9798	0.35048	T	0.179	0.52504	T	9	0.21148857	0.37578	T	0.009318	0.24459	T	0.098	0.28162	0.503	0.59615	0.143184338766	0.13958	0.18066746165930556	0.17985	0.436506209224	0.43739	0.394043803215	0.24237	T	0.519204	0.83154	D	-0.0615836	0.42659	T	-0.326237	0.41887	T	0.9396812915802	0.61135	D	0.868313	0.57032	D	0.18095781	0.39242	0.15429825	0.36219	0.18095781	0.39242	0.15429825	0.36218	-7.15	0.55121	T	.	.	0.090	0.25978	B	.;.;.	.;.;.	4.985831	0.82625	27.8	0.9881136355506035	0.46623	0.52886	0.29239	D	AEFBCI	0.250378	0.37044	N	0.474468878140522	0.65603	4.843416	0.409804835214453	0.62173	4.428596	0.999915866268289	0.45857	0.719381	0.83141	0	0.702456	0.74545	0	0.723109	0.80598	0	0.733575	0.97253	0	.	.	5.01	2.81	0.31971	3.446000	0.52692	2.932000	0.35621	0.549000	0.26987	0.684000	0.28476	0.275000	0.24072	0.916000	0.45140	0.367:0.4747:0.1583:0.0	6.716	0.22492	628	0.65206	Condensin-2 complex subunit H2, C-terminal;Condensin-2 complex subunit H2, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1337.98	39	chr22	50521592	.	C	G	1337.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.267;DP=778;ExcessHet=0.0000;FS=5.293;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.70;ReadPosRankSum=-1.120e+00;SOR=0.869	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1150	20	0	1	0
chr22	50580397	50580397	G	A	exonic	CHKB	.	nonsynonymous SNV	CHKB:NM_005198:exon6:c.C697T:p.P233S,	Muscular dystrophy, congenital, megaconial type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1419027	Megaconial_type_congenital_muscular_dystrophy	MONDO:MONDO:0011246,MedGen:C1865233,OMIM:602541,Orphanet:280671	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.65	T	0.016	B	0.028	B	0.000	D	0.999	D	0.695	N	0.42	T	-1.056	T	0.085	T	0.357	1.810	12.01	4.38	2.541	3.550	8.162	0.076	0.011811685336	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1373704548	1.368e-06	1.368e-06	0	2.75e-06	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	0	6.572e-06	6.567e-06	0	1.346e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.576	0.06067	T	0.742	0.04947	T	0.016	0.17332	B	0.028	0.21332	B	0.000000	0.84330	D	0.000000	0.99914	0.46174	D	0.735	0.18861	N	0.42	0.56937	T	-0.38	0.13418	N	0.29	0.32812	-1.0564	0.12672	T	0.085	0.33014	T	10	0.20489699	0.36698	T	0.011812	0.29802	T	0.076	0.22200	0.26	0.20315	0.71530076483	0.71280	0.5587756702066397	0.55804	.	.	0.476059108973	0.35514	T	0.065054	0.32592	T	-0.0811647	0.39525	T	-0.354364	0.38705	T	0.338189840316772	0.26552	T	0.865613	0.56501	D	0.22235557	0.44833	0.120216966	0.29014	0.22235557	0.44833	0.120216966	0.29014	-6.58	0.50900	T	0.14027450027486355	0.15683	0.088	0.11749	B	.	.	3.310225	0.45477	22.1	0.86390848151287081	0.16504	0.96318	0.68553	D	AEFDBI	0.614779	0.60197	D	-0.270068397434066	0.30310	1.688829	-0.0848833221673422	0.36015	2.090571	0.999999960337774	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.41	4.38	0.52019	3.212000	0.50847	7.211000	0.57822	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.0868:0.1576:0.7556:0.0	8.162	0.30363	592	0.68746	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	5597.98	43	chr22	50580397	.	G	A	5597.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.19;DP=1682;ExcessHet=0.0000;FS=0.546;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=-7.500e-02;SOR=0.625	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,102,1530	20	0	1	0
chr22	50674625	50674625	C	T	exonic	SHANK3	.	nonsynonymous SNV	SHANK3:NM_001372044:exon3:c.C209T:p.P70L,	Phelan-McDermid syndrome, Isolated cases	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1478574809	2.142e-05	2.532e-05	1.11e-05	3.334e-05	0.0005	1.338e-05	1.104e-05	8.679e-05	3.607e-05	0	0	0	0.0005	0	0	1.306e-05	0.0001	0.0001	1.391e-05	1.337e-05	0	2.859e-05	0.0004	2.31e-06	8.7e-07	7.512e-05	3.111e-05	0	0	0	0	0.0004	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	861.04	11	chr22	50674625	.	C	T	861.04	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.040e-01;DP=296;ExcessHet=0.0000;FS=3.244;InbreedingCoeff=-0.0287;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=0.117;SOR=0.356	GT:AD:DP:GQ:PL	0/0:10,0:10:30:0,30,258	20	0	1	0
chr22	50744797	50744797	G	A	exonic	ACR	.	nonsynonymous SNV	ACR:NM_001097:exon5:c.G856A:p.A286T,	.	.	437	1083	1	1	0	3	0.00138313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	1.0	D	0.976	D	0.023	N	1.000	D	-0.015	N	0.29	T	-0.959	T	0.141	T	0.316	2.660	14.85	2.78	1.997	1.275	5.62	0.142	0.0231281468857	.	.	9.46e-05	0	0.0014	0	0	0	0	0	3.84e-05	1	26028	rs748831621	3.704e-05	3.831e-05	4.366e-05	3.035e-05	0.0011	2.902e-05	2.599e-05	0.0008	0.0007	0	0.0011	0	0	0	0	6.305e-06	0	0	1.319e-05	1.313e-05	1.289e-05	1.351e-05	0.0001	2.19e-06	8.2e-07	2.265e-05	9.09e-06	0	0	0.0001	0	0	0	0	0	0	0	0.251	0.17069	T	0.415	0.14326	T	1.0	0.90584	D	0.976	0.73562	D	0.022891	0.26547	N	0.183072	0.770584	0.29441	N	0.485	0.13215	N	0.29	0.58897	T	-1.11	0.28703	N	0.267	0.30233	-0.9585	0.39461	T	0.141	0.46202	T	10	0.07963368	0.12834	T	0.023128	0.46073	T	0.142	0.37995	0.351	0.34922	0.756286902179	0.75407	0.2225517324746304	0.22170	.	.	0.400285899639	0.25109	T	0.374576	0.73835	T	-0.397111	0.02418	T	-0.38875	0.34699	T	0.115687978345737	0.14004	T	.	.	.	0.10243359	0.24204	0.11175612	0.26959	0.10243359	0.24204	0.11175612	0.26959	-4.177	0.26417	T	.	.	0.149	0.32992	B	.	.	3.718024	0.53115	23.3	0.99824750091471992	0.90677	0.10035	0.15650	N	AEFGI	0.122348	0.23745	N	-0.168051263960591	0.34468	1.967831	-0.217789659097748	0.30899	1.74374	3.48572202509651E-5	0.03775	0.623552	0.39893	0	0.610034	0.51514	0	0.577349	0.28860	0	0.579976	0.35079	0	.	.	3.88	2.78	0.31702	1.151000	0.31263	4.596000	0.43977	0.614000	0.49286	0.127000	0.23295	1.000000	0.68203	0.807000	0.38039	0.1577:0.0:0.8423:0.0	5.62	0.16731	703	0.57489	Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1744.98	45	chr22	50744797	.	G	A	1744.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.642;DP=998;ExcessHet=0.0000;FS=0.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=42.65;MQRankSum=-2.673e+00;QD=10.58;ReadPosRankSum=1.15;SOR=0.628	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,103,1473	20	0	1	0
chrX	2789668	2789668	G	A	exonic	XG	.	nonsynonymous SNV	XG:NM_001141919:exon5:c.G215A:p.R72H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.0	B	0.0	B	0.972	N	1.000	N	0.895	L	1.78	T	-1.041	T	0.033	T	0.084	-0.600	1.318	-4.52	-2.872	-0.864	1.782	0.014	0.00113772002692	0.0002	.	0.0002	0.0006	0	0	0	0	0	0.0008	6.47e-05	10	154602	rs141168663	2.565e-05	2.914e-05	2.088e-05	3.593e-05	0.0005	1.757e-05	1.505e-05	0.0003	0.0003	8.105e-05	3.371e-05	0	0	0	0	2.444e-06	0	0.0005	4.474e-05	5.227e-05	2.571e-05	8.833e-05	0.0002	1.708e-05	1.05e-05	6.362e-05	4.132e-05	0.0002	0	0	0	0	0	0	0	0	0	0.188	0.21304	T	0.223	0.35205	T	0.0	0.02946	B	0.0	0.01387	B	0.971534	0.07782	N	1.015150	1	0.08975	N	0.895	0.22405	L	1.78	0.25678	T	-0.31	0.21644	N	0.049	0.02088	-1.0409	0.17041	T	0.033	0.14203	T	10	0.019914389	0.00451	T	0.001138	0.01410	T	0.014	0.01968	.	.	0.0297737177859	0.01360	0.06959100000101906	0.06897	0.139262739081	0.15693	0.27539101243	0.06858	T	0.105032	0.41513	T	-0.522637	0.00425	T	-0.988509	0.00162	T	0.0323891803680994	0.02370	T	0.635836	0.25884	T	0.038379252	0.05102	0.039971728	0.04213	0.038379252	0.05102	0.039971728	0.04213	-5.242	0.42045	T	.	.	0.103	0.18539	B	.;.;.;.	.;.;.;.	0.171781	0.05604	2.060	0.86600416714295925	0.16645	0.00116	0.00732	N	AEFI	.	.	.	.	.	.	.	.	.	0.999985930645294	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.26	-4.52	0.03227	-1.306000	0.02844	-5.018000	0.01884	-1.396000	0.01145	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4238:0.1824:0.2792:0.1146	1.782	0.02851	1000	0.00083	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	519.98	34	chrX	2789668	.	G	A	519.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.340e-01;DP=645;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.06;ReadPosRankSum=1.12;SOR=0.631	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,915	20	0	1	0
chrX	2949581	2949581	G	T	exonic	ARSL	.	nonsynonymous SNV	ARSL:NM_001282631:exon5:c.C415A:p.L139M	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.185	B	0.187	B	0.771	N	1.000	N	2.12	M	-3.48	D	-0.058	T	0.775	D	0.141	0.822	8.309	0.617	-0.027	-0.022	3.387	0.260	0.776129433328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.085	0.41573	T	0.185	0.29232	B	0.187	0.36167	B	0.771342	0.06599	N	1.137120	1	0.08975	N	1.685	0.43254	L	-3.48	0.94584	D	-1.25	0.31576	N	0.098	0.07949	-0.0578	0.81040	T	0.775	0.92353	D	10	0.27514297	0.45071	T	0.776129	0.98234	D	0.260	0.57221	0.469	0.54214	0.578813787709	0.57551	0.8251499603683399	0.82472	1.04755800621	0.76010	0.360966145992	0.19526	T	0.66639	0.90049	D	-0.0706902	0.41217	T	-0.339318	0.40421	T	0.123483844101429	0.14767	T	0.585341	0.21331	T	0.17103419	0.37713	0.08359563	0.19169	0.17103419	0.37713	0.08359563	0.19169	-4.551	0.31550	T	.	.	0.097	0.19032	B	.;.;.	.;.;.	0.747239	0.11166	7.807	0.91306905955294571	0.20567	0.07045	0.13072	N	AEFBI	.	.	.	.	.	.	.	.	.	0.988793743189767	0.31630	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.56	0.617	0.16794	0.260000	0.18192	0.817000	0.21810	0.674000	0.70861	0.065000	0.21925	0.320000	0.24318	0.003000	0.05239	0.3711:0.0:0.432:0.1969	3.387	0.06853	1000	0.00083	Sulfatase, N-terminal;Sulfatase, N-terminal;Sulfatase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2628.98	33	chrX	2949581	.	G	T	2628.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=885;ExcessHet=0.0000;FS=1.143;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.98;ReadPosRankSum=-2.430e-01;SOR=0.816	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1067	20	0	1	0
chrX	3084371	3084371	C	T	exonic	ARSF	.	nonsynonymous SNV	ARSF:NM_001201538:exon6:c.C535T:p.R179C	.	.	424	1095	2	1	0	4	0.00182315	.	.	3214361	ARSF-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.19	T	0.19	B	0.111	B	0.425	U	1.000	N	0.395	N	-3.29	D	-0.437	T	0.526	D	0.354	2.002	12.65	1.43	0.330	0.395	0.343	0.289	0.0105141634596	0.0032	0.0015894	0.0024	0.0004	0.0002	0	0.0007	0.0034	0	0.0038	0.0022768	352	154602	rs146302062	0.0039	0.0039	0.0039	0.0040	0.0047	0.0038	0.0038	0.0046	0.0045	0.0004	0.0007	0	3.311e-05	0.0009	0.0010	0.0047	0.0022	0.0036	0.0025	0.0025	0.0028	0.0019	0.0043	0.0023	0.0022	0.0038	0.0036	0.0005	0.0015	0.0018	0	0.0003	0.0008	0	0.0043	0.0007	0.0042	0.15	0.24661	T	0.053	0.47336	T	0.19	0.29379	B	0.111	0.31539	B	0.425492	0.12816	U	0.735614	1	0.08975	N	1.28	0.32218	L	-3.29	0.93740	D	-2.27	0.50666	N	0.091	0.07125	-0.4366	0.70843	T	0.526	0.82350	D	10	0.008455098	0.00192	T	0.010514	0.27131	T	0.289	0.60808	.	.	0.63470690541	0.63171	0.6733198435952007	0.67269	0.538022590634	0.51072	0.278664797544	0.07307	T	0.607887	0.87529	D	-0.289239	0.09713	T	-0.189087	0.55675	T	0.0208307139086772	0.00783	T	0.725627	0.33984	T	0.104330406	0.24663	0.11619517	0.28049	0.104330406	0.24663	0.11619517	0.28049	-6.379	0.49345	T	.	.	0.323	0.58251	B	.;.	.;.	1.591157	0.20349	14.71	0.99701162249416164	0.80660	0.01054	0.03923	N	AEFBI	.	.	.	.	.	.	.	.	.	5.0281473643528E-5	0.03989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.44	1.43	0.21585	0.500000	0.22270	-2.870000	0.03277	0.547000	0.25779	0.016000	0.19238	0.000000	0.08366	0.007000	0.07825	0.3018:0.3054:0.1588:0.234	0.343	0.00314	1000	0.00083	Sulfatase, N-terminal;Sulfatase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3576.08	34	chrX	3084371	.	C	T	3576.08	.	AC=2;AF=0.048;AN=42;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.83;SOR=0.877	GT:AD:DP:GQ:PL	1/1:0,116:116:99:3604,347,0	20	1	0	0
chrX	3321295	3321295	G	A	exonic	MXRA5	.	nonsynonymous SNV	MXRA5:NM_015419:exon5:c.C4390T:p.H1464Y,	.	.	436	1074	8	4	0	16	0.00739372	.	.	717781	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.06	T	0.003	B	0.001	B	0.454	U	1.000	N	0.695	N	0.02	T	-1.001	T	0.100	T	0.083	0.707	7.771	-0.093	-0.081	0.206	3.784	0.031	0.00709073931211	0.0070	0.0018543	0.0054	0.0009	0.0036	0	0.0042	0.0084	0.0016	0.0009	0.0054851	848	154602	rs41305155	0.0099	0.0099	0.0100	0.0095	0.0121	0.0097	0.0096	0.0114	0.0113	0.0014	0.0049	0.0024	3.311e-05	0.0048	0.0121	0.0116	0.0107	0.0013	0.0060	0.0061	0.0064	0.0052	0.0097	0.0057	0.0055	0.0090	0.0087	0.0013	0	0.0078	0.0023	0	0.0028	0	0.0097	0.0086	0.0011	0.098	0.30800	T	0.047	0.48855	D	0.003	0.11197	B	0.001	0.04355	B	0.453880	0.04830	U	1.428930	1	0.08975	N	1.59	0.40313	L	0.02	0.62318	T	-1.18	0.30140	N	0.02	0.00308	-1.0008	0.29688	T	0.100	0.37137	T	10	0.00518623	0.00113	T	0.007091	0.18786	T	0.031	0.07369	.	.	0.32306181527	0.31918	0.1982994397419881	0.19746	0.0780077054387	0.08783	0.237937927246	0.02608	T	0.003206	0.02606	T	-0.714628	0.00030	T	-0.788902	0.02195	T	0.0033541030732423	0.00035	T	0.512349	0.16405	T	0.08711681	0.20275	0.11446916	0.27632	0.08711681	0.20274	0.11446916	0.27631	-3.794	0.20715	T	.	.	0.101	0.17530	B	.	.	-0.180241	0.03192	0.526	0.94699164853636397	0.25350	0.02694	0.07335	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.00941869622032055	0.11850	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.08	-0.0929	0.12990	0.096000	0.14986	-0.263000	0.10410	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.2352:0.4488:0.316:0.0	3.784	0.08213	1000	0.00083	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1306.08	71	chrX	3321295	.	G	A	1306.08	.	AC=2;AF=0.048;AN=42;DP=1204;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.65;SOR=0.693	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,1126	20	1	0	0
chrX	6533750	6533750	C	T	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.G556A:p.V186M,	.	.	434	1062	26	0	0	26	0.012093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.982	D	0.729	P	.	.	1.000	N	0	N	2.01	T	-1.044	T	0.046	T	0.148	1.382	10.55	0.463	0.480	0.607	.	0.057	.	.	.	0.0109	0.0078	0.0053	0	0.0141	0.0140	0.0103	0.0102	0.0002135	33	154602	rs74393938	0.0014	0.0055	0.0019	0.0003	0.0017	0.0013	0.0013	0.0014	0.0013	0.0008	0.0008	0.0047	0.0002	0.0033	0.0003	0.0012	0.0022	0.0017	0.0030	0.0069	0.0041	0	0.0035	0.0027	0.0026	0.0028	0.0026	0.0035	0	0.0018	0.0029	0.0003	0.0071	0	0.0028	0.0055	0.0017	0.0	0.91255	D	0.101	0.38596	T	0.982	0.60036	D	0.729	0.55225	P	.	.	.	.	0.999973	0.19072	N	0.695	0.17993	N	1.91	0.23283	T	0.14	0.05405	N	0.075	0.25867	-1.0439	0.16148	T	0.046	0.19800	T	8	0.0052250326	0.00114	T	.	.	.	0.057	0.16321	.	.	.	.	0.010725019350369076	0.01033	0.268142659766	0.29341	0.496027678251	0.38275	T	0.001791	0.01214	T	-0.39512	0.02492	T	-0.805339	0.01772	T	0.0207467507570982	0.00774	T	0.432757	0.11777	T	0.15995844	0.35904	0.15014142	0.35422	0.15995844	0.35904	0.15014142	0.35422	-4.895	0.35678	T	.	.	0.144	0.33573	B	.;.;.	.;.;.	0.449974	0.08202	4.937	0.85326322252058417	0.15823	0.04088	0.09549	N	AEFI	.	.	.	.	.	.	.	.	.	7.46993312473294E-5	0.04552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.463	0.15912	-0.735000	0.04992	0.109000	0.14755	0.173000	0.17773	0.000000	0.06391	0.012000	0.20211	0.002000	0.04165	.	.	.	1000	0.00083	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	1586.35	41	chrX	6533750	.	C	T	1586.35	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.74;DP=3712;ExcessHet=0.3300;FS=8.040;InbreedingCoeff=-0.0877;MLEAC=3;MLEAF=0.071;MQ=54.96;MQRankSum=-4.348e+00;QD=1.38;ReadPosRankSum=-3.580e+00;SOR=1.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1160	18	0	3	0
chrX	6533758	6533758	-	GTTCTTCCATCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTG	exonic	VCX3A	.	nonframeshift insertion	VCX3A:NM_016379:exon3:c.547_548insCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAAC:p.E182_L183insPLSQESQVEEPLSQESEMEE,	.	.	425	1048	35	4	10	53	0.0201029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0044	0.0059	0.0058	0.0016	0.0098	0.0043	0.0043	0.0088	0.0085	0.0014	0.0046	0.0098	0.0098	0.0174	0.0058	0.0036	0.0063	0.0023	0.0017	0.0036	0.0022	0.0003	0.0021	0.0015	0.0014	0.0018	0.0016	0.0007	0	0.0020	0.0041	0.0021	0.0012	0.0104	0.0021	0.0030	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5291.07	41	chrX	6533758	.	A	AGTTCTTCCATCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTG	5291.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.51;DP=3436;ExcessHet=0.1072;FS=70.926;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=50.03;MQRankSum=0.786;QD=12.87;ReadPosRankSum=4.64;SOR=1.817	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1160	19	0	2	0
chrX	6533793	6533793	C	0	exonic	VCX3A	.	.	.	.	.	0	211	6	0	9	15	0.0140187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	588.78	41	chrX	6533793	.	C	T,*	588.78	.	AC=1,1;AF=0.026,0.026;AN=38;BaseQRankSum=3.05;DP=3620;ExcessHet=0.1072;FS=0.484;InbreedingCoeff=-0.0769;MLEAC=1,1;MLEAF=0.026,0.026;MQ=46.67;MQRankSum=-4.214e+00;QD=1.55;ReadPosRankSum=-1.932e+00;SOR=0.760	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0,0:33:99:.:.:0,99,1160,99,1160,1160	17	0	1	2
chrX	6533798	6533798	C	T	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.G508A:p.V170M,	.	.	440	949	96	2	35	135	0.0500501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.147	B	0.012	B	.	.	1.000	N	0	N	1.95	T	-1.009	T	0.014	T	0.129	-0.572	1.426	-1.19	-0.254	0.040	2.317	0.016	.	0.0069	0.0111258	0.0082	0.0107	0.0039	0.0002	0.0084	0.0092	0.0102	0.0105	0.0016905	44	26028	rs150302824	0.0013	0.0039	0.0020	1.813e-05	0.0039	0.0013	0.0013	0.0022	0.0017	0.0002	0.0004	0.0017	0.0001	0.0060	0.0039	0.0012	0.0016	0.0012	0.0038	0.0066	0.0051	4.212e-05	0.0069	0.0035	0.0033	0.0048	0.0046	0.0021	0.0018	0.0007	0.0067	0.0003	0.0033	0.0123	0.0054	0.0024	0.0069	0.18	0.21968	T	0.053	0.47336	T	0.147	0.27870	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	0.14	0.08730	N	1.95	0.22474	T	-1.11	0.32991	N	0.061	0.03283	-1.0093	0.27136	T	0.014	0.05657	T	9	0.0061380565	0.00138	T	.	.	.	0.016	0.02506	.	.	0.043077524339	0.03247	0.0029042973972772407	0.00270	0.268142659766	0.29341	0.492105185986	0.37731	T	0.008069	0.07427	T	-0.801426	0.00008	T	-0.959347	0.00234	T	0.0014211687957868	0.00014	T	0.418458	0.11053	T	0.07575911	0.17089	0.0887198	0.20703	0.07575911	0.17089	0.0887198	0.20702	-7.283	0.56074	T	.	.	0.128	0.27161	B	.;.	.;.	0.636114	0.10045	6.796	0.36933765174065997	0.02404	0.00020	0.00220	N	AEFI	.	.	.	.	.	.	.	.	.	1.41924753792295E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595	-1.19	0.09091	-2.402000	0.01125	-3.692000	0.02601	-1.745000	0.00696	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4005:0.3328:0.2667	2.317	0.03945	1000	0.00083	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.08333	3764.59	41	chrX	6533798	.	C	T,*	3764.59	.	AC=2,1;AF=0.056,0.028;AN=36;BaseQRankSum=0.852;DP=4116;ExcessHet=0.3300;FS=3.994;InbreedingCoeff=-0.1201;MLEAC=2,1;MLEAF=0.056,0.028;MQ=50.61;MQRankSum=-9.630e-01;QD=5.17;ReadPosRankSum=-1.693e+00;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0,0:33:99:.:.:0,99,1160,99,1160,1160	15	0	2	3
chrX	6533798	6533798	C	0	exonic	VCX3A	.	.	.	.	.	440	949	96	2	35	135	0.0500501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3764.59	41	chrX	6533798	.	C	T,*	3764.59	.	AC=2,1;AF=0.056,0.028;AN=36;BaseQRankSum=0.852;DP=4116;ExcessHet=0.3300;FS=3.994;InbreedingCoeff=-0.1201;MLEAC=2,1;MLEAF=0.056,0.028;MQ=50.61;MQRankSum=-9.630e-01;QD=5.17;ReadPosRankSum=-1.693e+00;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0,0:33:99:.:.:0,99,1160,99,1160,1160	15	0	2	3
chrX	6533801	6533801	G	C	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.C505G:p.Q169E,	.	.	437	999	51	0	35	86	0.0248902	.	.	1196393	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	no_assertion_criteria_provided	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.416	B	0.055	B	.	.	1.000	N	1.445	L	2.35	T	-0.965	T	0.011	T	0.031	-2.954	0.001	-1.19	-1.237	-1.919	1.932	0.026	.	0.0098	0.0116556	0.0019	0.0108	0.0004	0.0031	0.0016	0.0009	0.0017	0.0009	0.0018057	47	26028	rs137964452	0.0004	0.0012	0.0005	0.0002	0.0007	0.0003	0.0003	0.0003	0.0003	0.0003	3.166e-05	0	0.0004	0.0016	0.0007	0.0004	0.0003	0.0003	0.0011	0.0030	0.0014	0	0.0026	0.0009	0.0008	0.0021	0.0019	0.0026	0	0.0004	0.0009	0.0007	0	0	0.0006	0	0	1.0	0.09989	T	1.0	0.03886	T	0.416	0.35222	B	0.055	0.25995	B	.	.	.	.	1	0.08975	N	0.11	0.08516	N	2.35	0.16217	T	-0.26	0.14193	N	0.072	0.08506	-0.9646	0.38290	T	0.011	0.03949	T	9	0.0056487024	0.00125	T	.	.	.	0.026	0.05648	.	.	0.043077524339	0.03247	8.920462994297167E-4	0.00082	0.28885402027	0.31292	0.502566754818	0.39186	T	0.001323	0.00800	T	-0.921897	0.00000	T	-1.14257	0.00010	T	0.0691892443533896	0.08538	T	0.482252	0.15733	T	0.08899886	0.20780	0.08663842	0.20087	0.08899886	0.20779	0.08663842	0.20086	-3.392	0.14949	T	.	.	0.035	0.00008	B	.;.	.;.	-0.785054	0.01137	0.053	0.10694135607750728	0.00141	0.00075	0.00520	N	AEFI	.	.	.	.	.	.	.	.	.	1.79158850418598E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595	-1.19	0.09091	-1.991000	0.01567	-4.683000	0.02035	0.163000	0.17726	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.4706:0.0:0.2622:0.2672	1.932	0.03126	1000	0.00083	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.05263	425.74	41	chrX	6533801	.	G	C,*	425.74	.	AC=1,1;AF=0.026,0.026;AN=38;DP=3898;ExcessHet=0.1072;FS=5.835;InbreedingCoeff=-0.0769;MLEAC=1,1;MLEAF=0.026,0.026;MQ=45.60;QD=1.14;SOR=0.630	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0,0:33:99:.:.:0,99,1160,99,1160,1160	17	0	1	2
chrX	6533801	6533801	G	0	exonic	VCX3A	.	.	.	.	.	437	999	51	0	35	86	0.0248902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	425.74	41	chrX	6533801	.	G	C,*	425.74	.	AC=1,1;AF=0.026,0.026;AN=38;DP=3898;ExcessHet=0.1072;FS=5.835;InbreedingCoeff=-0.0769;MLEAC=1,1;MLEAF=0.026,0.026;MQ=45.60;QD=1.14;SOR=0.630	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0,0:33:99:.:.:0,99,1160,99,1160,1160	17	0	1	2
chrX	6533824	6533883	TCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT	-	exonic	VCX3A	.	nonframeshift deletion	VCX3A:NM_016379:exon3:c.423_482del:p.V160_E179del,	.	.	45	125	45	1	10	57	0.158249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0009	0.0006	6.599e-05	0.0042	0.0004	0.0004	0.0031	0.0027	0.0003	0.0005	0.0028	0.0042	0.0009	0.0014	0.0003	0.0010	0.0004	0.0044	0.0088	0.0058	0	0.0074	0.0039	0.0038	0.0043	0.0039	0.0053	0.0028	0.0055	0.0040	0.0074	0.0053	0.0227	0.0036	0.0050	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4493.37	298	chrX	6533823	.	CTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT	C,TTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT,*	4493.37	.	AC=1,6,1;AF=0.050,0.300,0.050;AN=20;BaseQRankSum=0.473;DP=4867;ExcessHet=4.6500;FS=6.509;InbreedingCoeff=-0.3114;MLEAC=2,9,2;MLEAF=0.100,0.450,0.100;MQ=47.84;MQRankSum=1.25;QD=4.70;ReadPosRankSum=2.24;SOR=1.298	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:88,0,0,0:88:0:.:.:0,0,0,0,0,0,0,0,0,0	2	0	1	11
chrX	6533823	6533883	CTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT	0	exonic	VCX3A	.	.	.	.	.	627	586	269	6	34	315	0.193393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4493.37	298	chrX	6533823	.	CTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT	C,TTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT,*	4493.37	.	AC=1,6,1;AF=0.050,0.300,0.050;AN=20;BaseQRankSum=0.473;DP=4867;ExcessHet=4.6500;FS=6.509;InbreedingCoeff=-0.3114;MLEAC=2,9,2;MLEAF=0.100,0.450,0.100;MQ=47.84;MQRankSum=1.25;QD=4.70;ReadPosRankSum=2.24;SOR=1.298	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:88,0,0,0:88:0:.:.:0,0,0,0,0,0,0,0,0,0	2	0	1	11
chrX	6533828	6533828	C	0	exonic	VCX3A	.	.	.	.	.	589	631	262	5	35	307	0.177314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1538	1960.98	281	chrX	6533828	.	C	T,*	1960.98	.	AC=2,2;AF=0.077,0.077;AN=26;BaseQRankSum=-4.230e-01;DP=4752;ExcessHet=0.8560;FS=1.716;InbreedingCoeff=0.0215;MLEAC=3,3;MLEAF=0.115,0.115;MQ=46.81;MQRankSum=-6.630e-01;QD=2.78;ReadPosRankSum=-1.398e+00;SOR=0.909	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:82,0,0:82:0:.:.:0,0,0,0,0,0	9	0	2	8
chrX	6533831	6533831	C	0	exonic	VCX3A	.	.	.	.	.	520	916	66	3	17	89	0.0378151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	721.15	177	chrX	6533831	.	C	G,*	721.15	.	AC=1,3;AF=0.031,0.094;AN=32;BaseQRankSum=-2.512e+00;DP=3673;ExcessHet=0.6776;FS=4.344;InbreedingCoeff=-0.1831;MLEAC=1,4;MLEAF=0.031,0.125;MQ=39.27;MQRankSum=2.06;QD=2.63;ReadPosRankSum=2.74;SOR=0.380	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0,0:42:99:.:.:0,105,1575,105,1575,1575	12	0	1	5
chrX	6533921	6533921	G	C	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.C385G:p.Q129E,	.	.	543	966	2	0	11	13	0.00103413	.	.	215626	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.95	T	0.02	B	0.002	B	.	.	1.000	N	1.15	L	2.35	T	-0.939	T	0.019	T	0.077	-1.123	0.123	.	-2.726	-3.634	3.380	0.021	0.00100473547963	.	.	0.0006	0.0006	0	0.0002	0.0005	0.0008	0	0.0004	0.0003074	8	26028	rs139657007	0.0002	0.0006	0.0003	1.211e-05	0.0015	0.0002	0.0002	0.0005	0.0003	0.0002	0.0002	0.0004	3.458e-05	0.0011	0.0015	0.0002	0.0004	0.0001	0.0011	0.0016	0.0014	0	0.0018	0.0009	0.0008	0.0014	0.0012	0.0018	0	0.0007	0.0005	0	0.0009	0	0.0010	0	0.0006	0.681	0.04417	T	0.914	0.02926	T	0.02	0.18235	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	2.35	0.16217	T	-0.48	0.15379	N	0.073	0.04668	-0.9390	0.42774	T	0.019	0.08173	T	8	0.017632455	0.00378	T	0.001005	0.01073	T	0.021	0.04004	.	.	0.043077524339	0.03247	0.0013055078381560828	0.00120	0.28885402027	0.31292	0.460381567478	0.33362	T	9.57E-4	0.00501	T	-0.910172	0.00000	T	-1.09919	0.00028	T	0.00686715525122581	0.00078	T	0.454955	0.12997	T	0.1174931	0.27699	0.07922997	0.17819	0.1174931	0.27699	0.07922997	0.17818	-2.396	0.05108	T	.	.	0.036	0.00006	B	.	.	-1.616596	0.00232	0.004	0.22995920600298814	0.00951	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	7.2036496174935E-5	0.04552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.428000	0.00527	-3.340000	0.02863	-3.294000	0.00099	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4896:0.2637:0.2466	3.380	0.06828	1000	0.00083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1235.1	75	chrX	6533921	.	G	C,GGCTCTCCTGACTCAGTGGTTCTTCCACCTC	1235.1	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.946;DP=1251;ExcessHet=0.1072;FS=48.252;InbreedingCoeff=-0.0504;MLEAC=1,1;MLEAF=0.024,0.024;MQ=35.85;MQRankSum=1.61;QD=8.29;ReadPosRankSum=0.347;SOR=2.603	GT:AD:DP:GQ:PL	0/0:31,0,0:31:81:0,81,1215,81,1215,1215	19	0	1	0
chrX	6533921	6533921	-	GCTCTCCTGACTCAGTGGTTCTTCCACCTC	exonic	VCX3A	.	nonframeshift insertion	VCX3A:NM_016379:exon3:c.384_385insGAGGTGGAAGAACCACTGAGTCAGGAGAGC:p.S128_Q129insEVEEPLSQES,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0002	0	0.0001	7.68e-05	2	26028	rs1363855103	0.0009	0.0032	0.0013	1.523e-05	0.0019	0.0009	0.0008	0.0009	0.0009	0.0002	0.0005	0.0020	6.911e-05	0.0009	0.0019	0.0010	0.0017	5.985e-05	0.0012	0.0018	0.0016	5.244e-05	0.0016	0.0010	0.0010	0.0013	0.0012	0.0005	0.0220	0.0016	0.0014	0.0004	0.0002	0	0.0016	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1235.1	75	chrX	6533921	.	G	C,GGCTCTCCTGACTCAGTGGTTCTTCCACCTC	1235.1	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.946;DP=1251;ExcessHet=0.1072;FS=48.252;InbreedingCoeff=-0.0504;MLEAC=1,1;MLEAF=0.024,0.024;MQ=35.85;MQRankSum=1.61;QD=8.29;ReadPosRankSum=0.347;SOR=2.603	GT:AD:DP:GQ:PL	0/0:31,0,0:31:81:0,81,1215,81,1215,1215	19	0	1	0
chrX	6533983	6533983	C	G	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.G323C:p.S108T,	.	.	474	1037	10	0	1	11	0.00479846	.	.	3345516	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.31	T	0.006	B	0.002	B	.	.	1.000	N	-1.245	N	2.54	T	-0.991	T	0.009	T	0.118	-4.290	0.001	-1.25	-3.647	-3.761	.	0.010	0.00182571788681	.	.	.	.	.	.	.	.	.	.	6.47e-05	10	154602	rs5934293	0.0011	0.0052	0.0014	0.0005	0.0018	0.0010	0.0010	0.0015	0.0014	0.0005	0.0004	0.0014	0.0006	0.0042	0.0007	0.0009	0.0014	0.0018	0.0034	0.0065	0.0045	8.287e-05	0.0045	0.0031	0.0030	0.0040	0.0038	0.0019	0.0018	0.0015	0.0034	0.0006	0.0055	0	0.0045	0.0072	0.0031	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-1.095	0.01012	N	2.54	0.13916	T	0.01	0.06868	N	0.044	0.04547	-0.9909	0.32373	T	0.009	0.03011	T	8	0.039732605	0.02486	T	0.001826	0.03141	T	0.010	0.01040	.	.	0.043077524339	0.03247	0.0034495201937485395	0.00321	0.244494998227	0.26952	0.474164128304	0.35253	T	0.001284	0.00766	T	-0.700758	0.00036	T	-1.04605	0.00070	T	0.0141886371471757	0.00279	T	0.183882	0.07415	T	0.13442245	0.31232	0.12706026	0.30592	0.13442245	0.31231	0.12706026	0.30591	-6.853	0.52952	T	.	.	0.066	0.02091	B	.;.;.	.;.;.	-0.678766	0.01370	0.078	0.038113215993917184	0.00001	0.00065	0.00468	N	AEFGI	.	.	.	.	.	.	.	.	.	0.182817759356452	0.17895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.627	-1.25	0.08920	-1.883000	0.01715	-1.322000	0.05720	-1.492000	0.01043	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	1000	0.00083	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	237.85	89	chrX	6533983	.	C	G	237.85	.	AC=2;AF=0.050;AN=40;BaseQRankSum=0.00;DP=1016;ExcessHet=0.1072;FS=1.451;InbreedingCoeff=-0.0649;MLEAC=2;MLEAF=0.050;MQ=34.92;MQRankSum=0.079;QD=3.26;ReadPosRankSum=0.039;SOR=1.092	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:19,0:19:54:.:.:0,54,810	18	0	2	1
chrX	6533984	6533984	T	C	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.A322G:p.S108G,	.	.	476	1036	10	0	0	10	0.00480307	.	.	3345515	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.478	P	0.041	B	.	.	1.000	N	0.345	N	2.17	T	-1.025	T	0.023	T	0.162	0.903	8.674	0.627	0.449	-0.055	.	0.026	0.00232243021554	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1253466082	0.0011	0.0052	0.0014	0.0004	0.0019	0.0010	0.0010	0.0015	0.0014	0.0005	0.0004	0.0016	0.0006	0.0043	0.0004	0.0009	0.0014	0.0019	0.0035	0.0067	0.0047	8.401e-05	0.0046	0.0032	0.0031	0.0041	0.0039	0.0019	0.0018	0.0014	0.0039	0.0006	0.0054	0	0.0046	0.0073	0.0031	0.064	0.63226	T	0.215	0.72224	T	0.478	0.36706	P	0.041	0.23986	B	.	.	.	.	1	0.08975	N	1.245	0.31408	L	2.17	0.19020	T	-1.63	0.42384	N	0.035	0.04547	-1.0248	0.22148	T	0.023	0.09923	T	8	0.08369303	0.13950	T	0.002322	0.04479	T	0.026	0.05648	.	.	0.043077524339	0.03247	0.0030667818329098142	0.00285	0.245572161414	0.27083	0.443225979805	0.31018	T	0.010668	0.09610	T	-0.533123	0.00368	T	-0.805928	0.01759	T	0.0407642605737014	0.03829	T	0.419858	0.23413	T	0.12491072	0.29294	0.1832876	0.41309	0.12491072	0.29294	0.1832876	0.41309	-8.754	0.66099	D	.	.	0.119	0.24430	B	.;.;.	.;.;.	1.560404	0.19987	14.54	0.66433449472753969	0.08058	0.00298	0.01590	N	AEFGI	.	.	.	.	.	.	.	.	.	6.46148542054851E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.627	0.627	0.16848	0.114000	0.15353	-1.444000	0.05425	0.188000	0.17839	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	1000	0.00083	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05	237.85	89	chrX	6533984	.	T	C	237.85	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-1.815e+00;DP=1013;ExcessHet=0.1072;FS=1.451;InbreedingCoeff=-0.0649;MLEAC=2;MLEAF=0.050;MQ=35.00;MQRankSum=0.079;QD=3.26;ReadPosRankSum=0.111;SOR=1.092	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:19,0:19:54:.:.:0,54,810	18	0	2	1
chrX	7843513	7843513	A	G	exonic	VCX	.	nonsynonymous SNV	VCX:NM_013452:exon3:c.A118G:p.K40E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.006	B	0.003	B	.	.	1.000	N	1.7	L	1.58	T	-0.936	T	0.046	T	0.071	0.015	4.093	-0.333	-1.042	0.353	.	0.051	.	.	.	0.0099	0.0032	0.0254	0.0281	0.0065	0.0080	0.0312	0.0030	0.0001153	3	26028	rs200750165	0.0022	0.0032	0.0032	6.021e-05	0.0071	0.0021	0.0021	0.0063	0.0060	0.0007	0.0021	0.0020	0.0071	0.0017	0.0011	0.0022	0.0017	0.0010	0.0019	0.0023	0.0024	0.0001	0.0060	0.0017	0.0016	0.0038	0.0031	0.0006	0	0.0011	0.0028	0.0060	0.0010	0	0.0027	0.0017	0.0012	0.111	0.29688	T	0.844	0.30534	T	0.006	0.13644	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	1.385	0.34509	L	1.58	0.29085	T	-0.3	0.13805	N	0.07	0.04790	-0.9365	0.43164	T	0.046	0.19680	T	8	0.005648434	0.00125	T	.	.	.	0.051	0.14325	.	.	0.043077524339	0.03247	0.01039131964325419	0.01000	0.495246887071	0.48067	0.565081715584	0.47984	T	0.013618	0.11743	T	-0.845237	0.00003	T	-0.977506	0.00187	T	5.33456368430052e-05	0.00000	T	0.420658	0.11777	T	0.113093816	0.26713	0.12959528	0.31158	0.113093816	0.26713	0.12959528	0.31157	-4.28	0.27896	T	.	.	0.177	0.38711	B	.;.;.	.;.;.	0.607878	0.09765	6.530	0.38657164627982821	0.02620	0.01020	0.03837	N	AEFI	.	.	.	.	.	.	.	.	.	2.26039914298939E-5	0.03498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	-0.333	0.12042	-0.306000	0.08217	-2.752000	0.03398	-0.509000	0.05002	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	1000	0.00083	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	136.0	43	chrX	7843513	.	A	G	136.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.663e+00;DP=662;ExcessHet=0.0000;FS=1.123;InbreedingCoeff=-0.0259;MLEAC=1;MLEAF=0.024;MQ=29.04;MQRankSum=0.203;QD=1.53;ReadPosRankSum=-1.071e+00;SOR=0.956	GT:AD:DP:GQ:PL	0/0:24,0:24:66:0,66,990	20	0	1	0
chrX	7843768	7843768	-	CTGTGTGGAT	exonic	VCX	.	frameshift insertion	VCX:NM_013452:exon3:c.373_374insCTGTGTGGAT:p.S125Tfs*128,	.	.	576	718	155	12	61	240	0.110836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	0.0001921	5	26028	rs768077574	0.0023	0.0032	0.0029	0.0006	0.0052	0.0022	0.0021	0.0030	0.0028	0.0015	0.0023	0.0057	0.0036	0.0045	0.0052	0.0020	0.0039	0.0010	0.0015	0.0055	0.0019	0	0.0022	0.0013	0.0012	0.0015	0.0013	0.0011	0.0028	0.0007	0.0022	0.0020	0.0011	0.0086	0.0018	0.0014	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	580.02	50	chrX	7843768	.	A	ACTGT,ACTGTGTGGAT	580.02	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-3.087e+00;DP=2172;ExcessHet=0.3300;FS=52.634;InbreedingCoeff=-0.0770;MLEAC=2,1;MLEAF=0.048,0.024;MQ=34.60;MQRankSum=0.657;QD=8.41;ReadPosRankSum=-1.973e+00;SOR=1.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,4,0:12:99:0|1:7843706_T_C:125,0,324,149,336,485:7843706	18	0	2	0
chrX	7843783	7843783	G	C	exonic	VCX	.	nonsynonymous SNV	VCX:NM_013452:exon3:c.G388C:p.V130L,	.	.	628	885	7	0	2	9	0.00393922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.002	B	0.0	B	.	.	1.000	D	-0.69	N	2.2	T	-0.906	T	0.000	T	0.028	-1.541	0.015	.	-2.297	-0.503	5.508	0.021	0.0210771077957	0.0852	.	0.0011	0.0009	0.0035	0.0002	0	0.0006	0.0032	0.0029	0.0002305	6	26028	rs1637792	0.0003	0.0010	0.0004	4.7e-05	0.0039	0.0003	0.0002	0.0029	0.0026	0.0002	0.0039	0.0004	0.0001	0.0004	0.0013	0.0002	0.0005	0.0004	0.0003	0.0016	0.0003	0	0.0021	0.0001	0.0001	0.0008	0.0005	0	0	0.0021	0	0	0	0	0.0001	0.0043	0.0011	0.533	0.06957	T	0.392	0.15406	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	0.27	0.09956	N	2.2	0.18570	T	-0.71	0.20145	N	0.015	0.00181	-0.9056	0.47378	T	0.000	0.00075	T	8	0.0066510737	0.00151	T	0.021077	0.43792	T	0.021	0.04004	0.177	0.08379	0.043077524339	0.03247	0.00631535509176976	0.00599	0.346873610274	0.36588	0.431406795979	0.29401	T	0.004066	0.03473	T	-0.951774	0.00000	T	-1.13382	0.00013	T	0.00175461665710524	0.00018	T	0.344866	0.07558	T	0.09941479	0.23461	0.08077138	0.18300	0.09941479	0.23461	0.08077138	0.18300	-7.855	0.60078	D	.	.	0.155	0.34250	B	.	.	-0.006621	0.04236	1.044	0.2051822530432153	0.00741	0.00206	0.01180	N	AEFI	.	.	.	.	.	.	.	.	.	5.45383099769521E-4	0.07273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.926000	0.01654	-1.720000	0.04851	-1.803000	0.00622	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.6544:0.3455:1.0E-4	5.508	0.16156	1000	0.00083	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.03125	212.96	69	chrX	7843783	.	G	C	212.96	.	AC=1;AF=0.031;AN=32;BaseQRankSum=0.752;DP=2164;ExcessHet=0.0000;FS=25.235;InbreedingCoeff=0.0788;MLEAC=1;MLEAF=0.031;MQ=51.97;MQRankSum=-3.129e+00;QD=1.70;ReadPosRankSum=-2.796e+00;SOR=1.442	GT:AD:DP:GQ:PL	./.:11,0:11:0:0,0,286	15	0	1	5
chrX	7843933	7843933	A	0	exonic	VCX	.	.	.	.	.	462	969	41	24	26	115	0.0439073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	2446.35	418	chrX	7843933	.	A	G,*	2446.35	.	AC=2,2;AF=0.063,0.063;AN=32;BaseQRankSum=4.80;DP=4453;ExcessHet=0.7148;FS=15.808;InbreedingCoeff=-0.0857;MLEAC=2,2;MLEAF=0.063,0.063;MQ=44.62;MQRankSum=-5.000e-03;QD=2.95;ReadPosRankSum=-4.069e+00;SOR=1.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0,0:33:99:.:.:0,99,1016,99,1016,1016	12	0	2	5
chrX	7843938	7843938	A	0	exonic	VCX	.	.	.	.	.	446	1000	38	24	14	100	0.0412272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	1098.86	416	chrX	7843938	.	A	G,*	1098.86	.	AC=1,2;AF=0.026,0.053;AN=38;BaseQRankSum=1.73;DP=4502;ExcessHet=0.3300;FS=24.150;InbreedingCoeff=-0.1053;MLEAC=1,2;MLEAF=0.026,0.053;MQ=40.47;MQRankSum=0.780;QD=2.13;ReadPosRankSum=-2.742e+00;SOR=2.256	GT:AD:DP:GQ:PL	0/0:33,0,0:33:99:0,99,1016,99,1016,1016	16	0	1	2
chrX	7843963	7843963	G	A	exonic	VCX	.	nonsynonymous SNV	VCX:NM_013452:exon3:c.G568A:p.V190M,	.	.	437	977	32	24	52	132	0.0393314	.	.	2823790	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.96	D	0.35	B	.	.	1.000	N	-0.895	N	1.95	T	-0.975	T	0.015	T	0.15	-0.236	2.861	.	-2.086	-0.450	5.945	0.114	.	.	0.00397351	0.0023	0.0005	0.0015	0	0.0064	0.0024	0.0034	0.0033	0.0033311	515	154602	rs201876650	0.0058	0.0087	0.0070	0.0034	0.0127	0.0057	0.0056	0.0090	0.0078	0.0004	0.0027	0.0047	4.041e-05	0.0127	0.0127	0.0060	0.0058	0.0058	0.0042	0.0065	0.0052	0.0001	0.0066	0.0038	0.0037	0.0059	0.0056	0.0006	0	0.0016	0.0077	0	0.0070	0	0.0066	0.0033	0.0061	0.138	0.25873	T	0.106	0.37872	T	0.96	0.55278	D	0.35	0.42815	B	.	.	.	.	1	0.08975	N	0.255	0.09829	N	1.95	0.22474	T	-0.73	0.25986	N	0.067	0.03956	-0.9754	0.36037	T	0.015	0.06090	T	8	0.0065913796	0.00149	T	.	.	.	0.114	0.32008	.	.	0.043077524339	0.03247	0.0032430097609367696	0.00302	0.354020575304	0.37190	0.454822123051	0.32603	T	0.011581	0.10309	T	-0.720018	0.00028	T	-0.892538	0.00557	T	0.00885473886292793	0.00110	T	0.460954	0.13351	T	0.105991945	0.25061	0.08594243	0.19877	0.105991945	0.25061	0.08594243	0.19877	-6.074	0.46894	T	.	.	0.125	0.26514	B	.;.	.;.	1.214405	0.16076	12.30	0.56313972898184261	0.05526	0.00026	0.00253	N	AEFI	.	.	.	.	.	.	.	.	.	2.63253077637493E-4	0.06244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.318000	0.02813	-3.812000	0.02521	-2.279000	0.00328	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.6784:0.3216:0.0	5.945	0.18451	1000	0.00083	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.1111	1857.61	416	chrX	7843963	.	G	A,*	1857.61	.	AC=2,2;AF=0.056,0.056;AN=36;BaseQRankSum=1.90;DP=4808;ExcessHet=0.6776;FS=3.155;InbreedingCoeff=-0.1507;MLEAC=2,2;MLEAF=0.056,0.056;MQ=46.15;MQRankSum=1.89;QD=1.91;ReadPosRankSum=-2.610e+00;SOR=0.745	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0,0:33:99:.:.:0,99,1016,99,1016,1016	14	0	2	3
chrX	7843963	7843963	G	0	exonic	VCX	.	.	.	.	.	437	977	32	24	52	132	0.0393314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	1857.61	416	chrX	7843963	.	G	A,*	1857.61	.	AC=2,2;AF=0.056,0.056;AN=36;BaseQRankSum=1.90;DP=4808;ExcessHet=0.6776;FS=3.155;InbreedingCoeff=-0.1507;MLEAC=2,2;MLEAF=0.056,0.056;MQ=46.15;MQRankSum=1.89;QD=1.91;ReadPosRankSum=-2.610e+00;SOR=0.745	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0,0:33:99:.:.:0,99,1016,99,1016,1016	14	0	2	3
chrX	7843975	7843975	-	TGAGT	exonic	VCX	.	frameshift insertion	VCX:NM_013452:exon3:c.580_581insTGAGT:p.P194Lfs*48,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.514e-05	0.0003	0	0	0	0	0	0	3.84e-05	1	26028	rs778613852	1.566e-05	4.921e-05	2.311e-05	0	0.0002	8.4e-06	6.14e-06	8.112e-05	5.729e-05	0	0	0	0	0	0	5.753e-06	3.205e-05	0.0002	1.383e-05	8.733e-05	1.702e-05	0	4.908e-05	0	0	.	.	4.908e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	887.11	416	chrX	7843975	.	C	CTGAGT	887.11	.	AC=1;AF=0.028;AN=36;BaseQRankSum=1.65;DP=4770;ExcessHet=0.0000;FS=16.335;InbreedingCoeff=-0.0633;MLEAC=1;MLEAF=0.028;MQ=40.23;MQRankSum=-3.850e-01;QD=6.62;ReadPosRankSum=-6.958e+00;SOR=1.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1016	17	0	1	3
chrX	7843976	7843976	C	0	exonic	VCX	.	.	.	.	.	638	189	366	281	48	976	0.710567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7353	86037.69	422	chrX	7843976	.	C	T,*,CAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	86037.69	.	AC=25,2,1;AF=0.735,0.059,0.029;AN=34;BaseQRankSum=2.89;DP=5914;ExcessHet=0.7503;FS=2.774;InbreedingCoeff=0.0476;MLEAC=29,2,1;MLEAF=0.853,0.059,0.029;MQ=49.09;MQRankSum=-9.050e+00;QD=21.65;ReadPosRankSum=1.63;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,79,0,0:79:99:.:.:2143,236,0,2143,236,2143,2143,236,2143,2143	0	8	6	4
chrX	7843976	7843976	-	AGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	exonic	VCX	.	frameshift insertion	VCX:NM_013452:exon3:c.581_582insAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT:p.S195Gfs*73,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.875e-05	0.0002	0	0	0	0	0	0	.	.	.	.	3.738e-06	8.672e-06	5.615e-06	0	6.53e-05	6.2e-07	2.3e-07	.	.	0	6.53e-05	0	0	0	0	2.552e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7353	86037.69	422	chrX	7843976	.	C	T,*,CAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	86037.69	.	AC=25,2,1;AF=0.735,0.059,0.029;AN=34;BaseQRankSum=2.89;DP=5914;ExcessHet=0.7503;FS=2.774;InbreedingCoeff=0.0476;MLEAC=29,2,1;MLEAF=0.853,0.059,0.029;MQ=49.09;MQRankSum=-9.050e+00;QD=21.65;ReadPosRankSum=1.63;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,79,0,0:79:99:.:.:2143,236,0,2143,236,2143,2143,236,2143,2143	0	8	6	4
chrX	8170097	8170097	-	GCTCTCCTGACTCAGTGGTTCCTCCACCTG	exonic	VCX2	.	nonframeshift insertion	VCX2:NM_016378:exon3:c.354_355insCAGGTGGAGGAACCACTGAGTCAGGAGAGC:p.S118_E119insQVEEPLSQES,	.	.	431	1063	15	11	2	39	0.0171059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0037	0.0011	0.0002	0.0036	0.0030	0	0.0008	0.0025161	389	154602	rs770371411	0.0055	0.0055	0.0054	0.0055	0.0073	0.0053	0.0053	0.0065	0.0062	0.0073	0.0042	0.0029	0.0027	0.0236	0.0073	0.0048	0.0074	0.0032	0.0029	0.0054	0.0035	0.0005	0.0033	0.0026	0.0025	0.0028	0.0027	0.0026	0	0.0015	0.0025	0.0004	0.0067	0	0.0033	0.0008	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2024.94	186	chrX	8170097	.	C	CGCTCTCCTGACTCAGTGGTTCCTCCACCTG	2024.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.33;DP=3152;ExcessHet=0.0000;FS=10.554;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.17;MQRankSum=-2.494e+00;QD=14.46;ReadPosRankSum=0.932;SOR=1.023	GT:AD:DP:GQ:PL	0/0:105,0:105:99:0,120,1800	20	0	1	0
chrX	8170334	8170334	T	C	exonic	VCX2	.	nonsynonymous SNV	VCX2:NM_016378:exon3:c.A118G:p.K40E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.005	B	0.001	B	.	.	1.000	N	1.895	L	1.58	T	-0.996	T	0.060	T	0.265	-0.215	2.959	-0.274	-1.157	-0.283	.	0.040	0.00114608402726	.	.	0.0039	0.0018	0.0044	0	0	0.0050	0	0.0026	0.000461	12	26028	rs376363003	0.0034	0.0038	0.0036	0.0026	0.0044	0.0033	0.0032	0.0038	0.0035	0.0014	0.0044	0.0039	0.0035	0.0028	0.0004	0.0035	0.0026	0.0023	0.0023	0.0028	0.0025	0	0.0067	0.0019	0.0018	0.0035	0.0026	0.0006	0	0.0049	0.0028	0.0067	0.0019	0	0.0023	0.0054	0.0040	0.147	0.24955	T	0.156	0.31833	T	0.005	0.12996	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.365	0.34158	L	1.58	0.29085	T	-2.36	0.52128	N	0.129	0.12341	-0.9956	0.31136	T	0.060	0.25018	T	8	0.0061736703	0.00139	T	0.001146	0.01410	T	0.040	0.10527	.	.	0.101711395817	0.09552	0.002899711642800959	0.00269	0.00870104335735	0.00791	0.53577208519	0.43848	T	0.01114	0.09975	T	-0.755458	0.00016	T	-0.853794	0.00913	T	0.00215455332106097	0.00022	T	0.432757	0.11777	T	0.17266044	0.37970	0.15256119	0.35887	0.17266044	0.37969	0.15256119	0.35886	-4.132	0.25760	T	.	.	0.183	0.39731	B	.	.	0.535751	0.09045	5.826	0.40039426821849544	0.02801	0.00333	0.01736	N	AEFI	.	.	.	.	.	.	.	.	.	3.14777490127949E-5	0.03775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	-0.274	0.12272	-2.378000	0.01147	-6.687000	0.01332	-0.350000	0.05574	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	1000	0.00083	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	170.19	14	chrX	8170334	.	T	C	170.19	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.900e-01;DP=319;ExcessHet=0.0000;FS=2.580;InbreedingCoeff=-0.0375;MLEAC=1;MLEAF=0.024;MQ=33.15;MQRankSum=2.69;QD=5.87;ReadPosRankSum=-9.280e-01;SOR=1.981	GT:AD:DP:GQ:PL	0/0:5,0:5:15:0,15,177	20	0	1	0
chrX	8465760	8465760	A	G	exonic	VCX3B	.	nonsynonymous SNV	VCX3B:NM_001001888:exon3:c.A118G:p.K40E,	.	.	859	658	4	1	0	6	0.00453858	.	.	2297121	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.018	B	0.002	B	.	.	1.000	N	0.975	L	1.58	T	-0.974	T	0.037	T	0.127	-0.498	1.715	-0.761	-0.599	-1.312	3.970	0.021	.	.	.	0.0099	0	0	0	.	0.0217	.	0	3.84e-05	1	26028	rs199960128	0.0013	0.0025	0.0017	0.0002	0.0042	0.0012	0.0012	0.0036	0.0034	0.0005	0.0010	0.0012	0.0042	0.0011	0	0.0011	0.0009	0.0035	0.0012	0.0015	0.0014	0	0.0036	0.0010	0.0009	0.0010	0.0009	0.0010	0	0.0011	0.0017	0.0010	0.0009	0	0.0013	0.0010	0.0036	0.101	0.31532	T	0.229	0.30631	T	0.018	0.17786	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.845	0.48678	L	1.58	0.29085	T	-0.44	0.14978	N	0.102	0.12770	-0.9735	0.36453	T	0.037	0.15770	T	9	0.0058926344	0.00132	T	.	.	.	0.021	0.04004	.	.	0.132336055621	0.12781	0.013586475059430964	0.01316	1.2521105706	0.81831	0.584758996964	0.50756	T	0.011933	0.10575	T	-0.784304	0.00010	T	-0.900213	0.00501	T	0.00189140629436905	0.00019	T	0.432757	0.11777	T	0.064872876	0.13809	0.073000275	0.15813	0.064872876	0.13808	0.073000275	0.15812	-4.19	0.26607	T	.	.	0.191	0.40952	B	.;.;.;.	.;.;.;.	0.564418	0.09329	6.111	0.26912467826038572	0.01311	0.00141	0.00861	N	AEFI	.	.	.	.	.	.	.	.	.	1.77191829770265E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	-0.761	0.10482	-0.438000	0.06975	-1.718000	0.04855	-0.570000	0.04786	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.7146:0.0:0.2854:0.0	3.970	0.08943	1000	0.00083	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	259.81	34	chrX	8465760	.	A	G	259.81	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-4.135e+00;DP=464;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0626;MLEAC=1;MLEAF=0.025;MQ=26.82;MQRankSum=-2.084e+00;QD=8.96;ReadPosRankSum=0.722;SOR=0.859	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	19	0	1	1
chrX	8465953	8465953	T	C	exonic	VCX3B	.	nonsynonymous SNV	VCX3B:NM_001001888:exon3:c.T311C:p.L104P,	.	.	583	926	13	0	0	13	0.00697051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.995	D	0.914	D	.	.	0.916	N	0.975	L	1.34	T	-0.999	T	0.117	T	0.201	0.784	8.133	0.654	0.494	-0.180	.	0.033	.	.	0.0148344	0.0091	0.02	0	0.0101	0.0024	0.0054	0.0183	0.0597	0.0004075	63	154602	rs757924718	0.0021	0.0041	0.0029	0.0005	0.0163	0.0021	0.0020	0.0150	0.0144	0.0100	0.0012	0.0005	0.0163	0.0012	0.0039	0.0011	0.0027	0.0097	0.0064	0.0084	0.0078	7.195e-05	0.0326	0.0059	0.0057	0.0259	0.0234	0.0128	0	0.0021	0.0010	0.0326	0.0014	0.0184	0.0030	0.0010	0.0193	0.077	0.34095	T	0.028	0.92824	D	0.995	0.67487	D	0.914	0.64984	D	.	.	.	.	0.999672	0.27400	N	2.215	0.62545	M	1.34	0.34841	T	-3.12	0.67705	D	0.077	0.31478	-0.9992	0.30143	T	0.117	0.41253	T	8	0.0037917495	0.00071	T	.	.	.	0.033	0.08068	.	.	0.0716867268079	0.06686	0.01163524341529036	0.01123	1.41972277544	0.85595	0.461865663528	0.33567	T	0.020686	0.16245	T	-0.669382	0.00055	T	-0.72391	0.04609	T	0.0342637401029684	0.02682	T	0.387861	0.15733	T	0.5320773	0.68949	0.47997195	0.69881	0.5320773	0.68950	0.47997195	0.69881	-4.74	0.33884	T	.	.	0.152	0.44227	B	.;.;.	.;.;.	1.555792	0.19936	14.51	0.48072168084454964	0.03982	0.01121	0.04088	N	AEFI	.	.	.	.	.	.	.	.	.	1.37016822449587E-4	0.05486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.654	0.654	0.17006	0.189000	0.16845	-1.360000	0.05625	0.304000	0.19002	0.017000	0.19353	0.000000	0.08366	0.009000	0.08673	.	.	.	1000	0.00083	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	409.43	46	chrX	8465953	.	T	C	409.43	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-4.629e+00;DP=601;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0423;MLEAC=1;MLEAF=0.025;MQ=34.90;MQRankSum=1.67;QD=10.24;ReadPosRankSum=2.03;SOR=0.754	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	19	0	1	1
chrX	8466006	8466035	GAACCACTGAGTCAGGAGAGCCAGGTGGAG	-	exonic	VCX3B	.	nonframeshift deletion	VCX3B:NM_001001888:exon3:c.364_393del:p.Q129_S138del,	.	.	621	857	9	1	34	45	0.00637681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	8.236e-05	0	0.0009	0.0001617	25	154602	rs768996666	0.0024	0.0022	0.0028	0.0012	0.0042	0.0023	0.0023	0.0023	0.0021	0.0005	0.0029	0.0044	0.0007	0.0042	0.0042	0.0023	0.0040	0.0021	0.0006	0.0010	0.0007	0	0.0007	0.0004	0.0004	0.0005	0.0004	5.67e-05	0.0081	0.0004	0.0018	0.0007	0.0021	0	0.0007	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3818.94	57	chrX	8466005	.	AGAACCACTGAGTCAGGAGAGCCAGGTGGAG	A	3818.94	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.690e+00;DP=843;ExcessHet=0.3300;FS=37.956;InbreedingCoeff=-0.0832;MLEAC=3;MLEAF=0.071;MQ=40.50;MQRankSum=0.706;QD=15.28;ReadPosRankSum=-2.108e+00;SOR=0.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1399	18	0	3	0
chrX	8466126	8466215	GAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	-	exonic	VCX3B	.	nonframeshift deletion	VCX3B:NM_001001888:exon3:c.484_573del:p.E169_S198del,	.	.	573	905	12	5	27	49	0.0120087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.0099	0.0021	0.0061	0.0003	0.0005	0	0.0013	3.84e-05	1	26028	.	0.0037	0.0043	0.0046	0.0012	0.0412	0.0036	0.0036	0.0387	0.0377	0.0127	0.0412	0.0042	0.0227	0.0085	0.0074	0.0016	0.0073	0.0067	0.0085	0.0086	0.0103	0.0001	0.0528	0.0077	0.0074	0.0384	0.0335	0.0377	0	0.0279	0.0007	0.0528	0.0031	0	0.0034	0.0021	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1970.09	8	chrX	8466125	.	GGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	AGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA,G	1970.09	.	AC=1,1;AF=0.028,0.028;AN=36;BaseQRankSum=-8.600e-01;DP=1087;ExcessHet=0.1259;FS=0.000;InbreedingCoeff=-0.0778;MLEAC=1,1;MLEAF=0.028,0.028;MQ=44.85;MQRankSum=1.66;QD=7.70;ReadPosRankSum=-5.812e+00;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:86,0,0:86:99:.:.:0,120,1800,120,1800,1800	16	0	1	3
chrX	8466215	8466215	A	0	exonic	VCX3B	.	.	.	.	.	689	655	115	37	26	215	0.126084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1398.21	85	chrX	8466215	.	A	G,*	1398.21	.	AC=5,1;AF=0.167,0.033;AN=30;BaseQRankSum=2.45;DP=1427;ExcessHet=0.0018;FS=4.360;InbreedingCoeff=0.3447;MLEAC=6,1;MLEAF=0.200,0.033;MQ=41.78;MQRankSum=0.800;QD=4.48;ReadPosRankSum=-5.270e-01;SOR=0.973	GT:AD:DP:GQ:PL	0/0:86,0,0:86:99:0,120,1800,120,1800,1800	11	2	1	6
chrX	8466274	8466274	A	-	exonic	VCX3B	.	frameshift deletion	VCX3B:NM_001001888:exon3:c.632delA:p.E212Nfs*3,	.	.	519	994	7	1	1	10	0.00450676	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0004	0.0001	0	0.0014	0.0003	0.0017	0.0001	3.84e-05	1	26028	rs745900726	0.0017	0.0021	0.0023	0.0005	0.0014	0.0017	0.0016	0.0014	0.0013	0.0006	0.0014	0.0005	0	0.0124	0.0004	0.0014	0.0023	0.0003	0.0073	0.0075	0.0088	0.0003	0.0086	0.0067	0.0065	0.0079	0.0076	0.0050	0.0072	0.0054	0.0026	0	0.0101	0.0315	0.0086	0.0034	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4187.96	39	chrX	8466273	.	GA	G	4187.96	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.253;DP=1511;ExcessHet=0.0000;FS=14.491;InbreedingCoeff=-0.0260;MLEAC=1;MLEAF=0.024;MQ=50.98;MQRankSum=1.29;QD=15.69;ReadPosRankSum=1.43;SOR=0.865	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,112:267:99:0|1:8466273_GA_G:4202,0,5806:8466273	20	0	1	0
chrX	8466277	8466335	AACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAA	-	exonic	VCX3B	.	frameshift deletion	VCX3B:NM_001001888:exon3:c.635_693del:p.E212Gfs*58,	.	.	523	990	7	1	1	10	0.00452489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0004	0.0001	0	0.0014	0.0003	0.0017	0.0001	.	.	.	.	0.0013	0.0020	0.0017	0.0005	0.0011	0.0013	0.0013	0.0010	0.0010	0.0006	0.0010	0.0003	0	0.0107	0	0.0011	0.0017	0.0002	0.0059	0.0073	0.0071	0.0003	0.0066	0.0054	0.0052	0.0059	0.0057	0.0051	0.0047	0.0043	0.0030	0	0.0093	0.0352	0.0066	0.0022	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3971.96	39	chrX	8466276	.	GAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAA	G	3971.96	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.012;DP=1610;ExcessHet=0.0000;FS=7.512;InbreedingCoeff=-0.0260;MLEAC=1;MLEAF=0.024;MQ=53.12;MQRankSum=-1.777e+00;QD=10.88;ReadPosRankSum=2.26;SOR=1.017	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:250,115:365:99:0|1:8466273_GA_G:3986,0,9781:8466273	20	0	1	0
chrX	8466326	8466326	C	0	exonic	VCX3B	.	.	.	.	.	615	751	69	79	8	235	0.13129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	8691.77	20	chrX	8466326	.	C	T,*	8691.77	.	AC=2,1;AF=0.056,0.028;AN=36;BaseQRankSum=0.010;DP=2396;ExcessHet=0.3672;FS=1.792;InbreedingCoeff=0.1135;MLEAC=2,1;MLEAF=0.056,0.028;MQ=52.92;MQRankSum=-3.640e-01;QD=8.65;ReadPosRankSum=3.18;SOR=0.847	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:250,0,115:365:99:0|1:8466273_GA_G:3986,4737,14865,0,10128,9781:8466273	15	0	2	3
chrX	8536860	8536860	G	T	exonic	ANOS1	.	nonsynonymous SNV	ANOS1:NM_000216:exon11:c.C1532A:p.S511Y,	Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), X-linked	.	1	1518	2	1	0	4	0.00131579	.	.	471776	not_specified|not_provided|Hypogonadotropic_hypogonadism_1_with_or_without_anosmia	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010635,MedGen:C1563719,OMIM:308700,Orphanet:478	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.149	B	0.195	B	0.033	N	0.998	N	1.15	L	0.26	T	-0.981	T	0.103	T	0.196	-1.673	0.012	0.455	-0.298	1.902	3.454	0.109	0.460678344346	0.0017	0.000529801	0.0018	0.0004	0.0012	0	0	0.0024	0.0018	0.0028	0.0015653	242	154602	rs142729431	0.0017	0.0017	0.0016	0.0019	0.0070	0.0017	0.0016	0.0050	0.0043	0.0002	0.0007	0	0	0.0001	0.0070	0.0019	0.0015	0.0027	0.0011	0.0011	0.0011	0.0009	0.0023	0.0009	0.0008	0.0014	0.0013	0.0002	0	0.0010	0	0	0	0.0139	0.0017	0.0007	0.0023	1.0	0.00964	T	1.0	0.01155	T	0.149	0.27956	B	0.195	0.36592	B	0.032520	0.25019	N	0.417082	0.99843	0.22156	N	1.795	0.47270	L	0.26	0.59314	T	-1.74	0.41239	N	0.186	0.20262	-0.9806	0.34863	T	0.103	0.37994	T	10	0.012378961	0.00266	T	0.460678	0.94507	D	0.109	0.30843	.	.	0.082315109003	0.07666	0.4127419884046237	0.41190	0.169588999585	0.19120	0.286001771688	0.08342	T	0.164454	0.50992	T	-0.57653	0.00202	T	-0.605225	0.12376	T	0.0162513227312763	0.00398	T	0.613939	0.23413	T	0.067395754	0.14591	0.08951854	0.20937	0.067395754	0.14591	0.08951854	0.20937	-4.628	0.32521	T	0.5696473493882007	0.63689	0.095	0.14933	B	.	.	0.569561	0.09383	6.161	0.099413096508733381	0.00113	0.70355	0.34556	D	AEFBI	.	.	.	.	.	.	.	.	.	0.00316257017770698	0.09966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.99	0.455	0.15862	2.500000	0.45040	0.009000	0.13411	0.676000	0.76740	1.000000	0.71638	0.000000	0.08366	0.920000	0.45560	0.5377:0.1966:0.2657:0.0	3.454	0.07075	1000	0.00083	Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	1109.08	44	chrX	8536860	.	G	T	1109.08	.	AC=2;AF=0.048;AN=42;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.44;SOR=0.743	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1066	20	1	0	0
chrX	8795213	8795215	CTC	-	exonic	FAM9A	.	nonframeshift deletion	FAM9A:NM_001171186:exon7:c.694_696del:p.E232del	.	.	494	1025	1	0	2	3	0.000487567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0096	.	0.0044	0.0008	0.0026	0	0.0017	0.0070	0	0.0022	0.0004226	11	26028	rs755359486	0.0052	0.0062	0.0054	0.0046	0.0062	0.0051	0.0050	0.0061	0.0060	0.0013	0.0004	0.0038	7.375e-05	0.0017	0.0006	0.0062	0.0031	0.0017	0.0032	0.0033	0.0036	0.0023	0.0057	0.0029	0.0028	0.0052	0.0050	0.0008	0	0.0009	0.0012	0	0.0011	0	0.0057	0.0014	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1172.94	40	chrX	8795212	.	TCTC	T	1172.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=715;ExcessHet=0.0000;FS=1.882;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.30;ReadPosRankSum=-7.410e-01;SOR=0.974	GT:AD:DP:GQ:PL	0/0:28,0:28:84:0,84,1004	20	0	1	0
chrX	8795269	8795286	CTGCTGCTGCTGCGGCTT	-	exonic	FAM9A	.	nonframeshift deletion	FAM9A:NM_001171186:exon7:c.623_640del:p.E208_A213del	.	.	450	1068	2	0	2	4	0.000935454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013245	0.0041	0.0060	0.0088	0.0193	0	0.0015	0	0.0049	0.0018305	283	154602	rs774169916	0.0012	0.0012	0.0013	0.0011	0.0070	0.0012	0.0011	0.0062	0.0059	0.0038	0.0029	5.385e-05	0.0070	8.394e-05	0.0033	0.0007	0.0018	0.0035	0.0024	0.0025	0.0026	0.0018	0.0116	0.0021	0.0020	0.0088	0.0078	0.0039	0	0.0041	0	0.0116	0.0004	0.0046	0.0009	0.0027	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	729.94	65	chrX	8795268	.	GCTGCTGCTGCTGCGGCTT	G	729.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=800;ExcessHet=0.0000;FS=1.018;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=-8.300e-01;SOR=0.530	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1022	20	0	1	0
chrX	8796329	8796329	C	T	exonic	FAM9A	.	nonsynonymous SNV	FAM9A:NM_001171186:exon6:c.G427A:p.A143T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.983	D	0.736	P	.	.	1.000	N	0.69	N	.	.	-1.037	T	0.051	T	0.08	0.229	5.235	-0.327	-0.205	0.178	.	0.109	.	0.0035	0.00291391	0.0034	0.0012	0.0013	0	0.0049	0.0055	0.0021	0.0007	0.0030918	478	154602	rs148031370	0.0059	0.0060	0.0061	0.0056	0.0072	0.0058	0.0058	0.0070	0.0069	0.0008	0.0011	0.0013	0	0.0036	0.0012	0.0072	0.0043	0.0008	0.0036	0.0036	0.0039	0.0030	0.0063	0.0033	0.0032	0.0057	0.0055	0.0009	0	0.0013	0.0015	0	0.0028	0.0047	0.0063	0.0020	0.0008	0.156	0.24090	T	0.551	0.09393	T	0.983	0.60381	D	0.736	0.55529	P	.	.	.	.	1	0.08975	N	0.345	0.11182	N	.	.	.	-1.35	0.33598	N	0.044	0.01658	-1.0371	0.18202	T	0.051	0.21806	T	7	0.0074426234	0.00169	T	.	.	.	0.109	0.30843	.	.	0.338592109245	0.33472	0.010700589535231167	0.01031	0.311760668889	0.33482	.	.	.	0.009438	0.08594	T	-0.698652	0.00037	T	-0.772616	0.02683	T	0.0210366418829909	0.00804	T	0.445455	0.12454	T	0.16291358	0.36398	0.19529615	0.43199	0.16291358	0.36398	0.19529615	0.43198	-4.12	0.25584	T	.	.	0.259	0.49412	B	.;.	.;.	1.307216	0.17096	12.96	0.74744612736666527	0.10811	0.00634	0.02782	N	AEFGI	.	.	.	.	.	.	.	.	.	0.499832219760755	0.20933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.678	-0.327	0.12064	0.626000	0.24185	-2.526000	0.03647	0.326000	0.19454	0.958000	0.33488	0.000000	0.08366	0.032000	0.13371	.	.	.	987	0.02648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2888.08	35	chrX	8796329	.	C	T	2888.08	.	AC=2;AF=0.048;AN=42;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.72;SOR=1.396	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1092	20	1	0	0
chrX	9691587	9691587	G	A	exonic	TBL1X	.	nonsynonymous SNV	TBL1X:NM_001139467:exon7:c.G472A:p.A158T	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.003	B	0.001	B	0.951	N	1.000	N	0	N	0.6	T	-1.020	T	0.084	T	0.115	-1.451	0.019	3.31	0.535	0.862	9.927	0.044	0.0131924463556	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1035620161	1.276e-05	1.275e-05	1.497e-05	8.274e-06	1.545e-05	7.4e-06	5.79e-06	8.62e-06	6.64e-06	0	0	0	0	0	0	1.545e-05	2.171e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.681	0.04417	T	0.64	0.07127	T	0.001	0.07471	B	0.001	0.04355	B	0.950585	0.07653	N	1.028760	1	0.08975	N	0.205	0.09354	N	0.6	0.55608	T	0.03	0.06612	N	0.091	0.07811	-1.0200	0.23715	T	0.084	0.32900	T	10	0.08466551	0.14213	T	0.013192	0.32398	T	0.044	0.11924	0.317	0.29419	0.55739315534	0.55398	0.2824439719265895	0.28157	0.699425841073	0.61035	0.406365126371	0.25954	T	0.206548	0.56593	T	-0.387577	0.02789	T	-0.794504	0.02043	T	0.0284032169729471	0.01747	T	0.672833	0.28305	T	0.04051441	0.05797	0.079529166	0.17911	0.04051441	0.05797	0.079529166	0.17911	-3.537	0.19318	T	.	.	0.062	0.01600	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.444883	0.18651	13.85	0.163900942264949	0.00437	0.31793	0.24426	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999988352852929	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.48	3.31	0.37025	1.621000	0.36597	0.902000	0.22558	-0.274000	0.06627	0.994000	0.38300	0.313000	0.24283	0.141000	0.19983	0.0:0.0:0.3404:0.6596	9.927	0.40667	962	0.08456	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3381.98	64	chrX	9691587	.	G	A	3381.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.06;DP=1184;ExcessHet=0.0000;FS=2.159;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.96;ReadPosRankSum=-3.750e-01;SOR=0.843	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chrX	9937400	9937400	G	T	exonic	SHROOM2	.	nonsynonymous SNV	SHROOM2:NM_001320663:exon3:c.G359T:p.G120V	.	.	433	1080	6	3	0	12	0.00552486	.	.	3220449	SHROOM2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.16	T	0.361	B	0.069	B	0.043	N	1.000	P	0.69	N	2.51	T	-1.086	T	0.022	T	0.224	-0.078	3.617	-1.07	-0.216	0.543	1.317	0.029	.	0.0089	0.00980132	0.0049	0.0281	0.0047	0.0046	0	0.0008	0	0.0065	0.003454	534	154602	rs150369562	0.0015	0.0015	0.0014	0.0016	0.0239	0.0014	0.0014	0.0224	0.0217	0.0239	0.0035	0.0034	0.0027	2.497e-05	0.0073	0.0003	0.0030	0.0049	0.0076	0.0077	0.0081	0.0063	0.0231	0.0071	0.0070	0.0217	0.0211	0.0231	0	0.0042	0.0049	0.0051	0	0.0046	0.0005	0.0091	0.0065	0.015	0.52492	D	0.077	0.42436	T	0.361	0.33905	B	0.069	0.27757	B	0.042877	0.01911	N	2.031810	1	0.08975	P	1.1	0.28011	L	2.51	0.44065	T	-2.76	0.71157	D	0.064	0.03613	-1.0864	0.06155	T	0.022	0.09513	T	9	0.0035270452	0.00063	T	.	.	.	0.029	0.06676	.	.	0.477606743035	0.47389	0.18401854649871036	0.18320	0.0929002082005	0.10492	0.426945984364	0.28790	T	0.155189	0.49681	T	-0.703592	0.00035	T	-0.764514	0.02953	T	0.0038654796285825	0.00041	T	0.420158	0.13193	T	0.106283404	0.25131	0.09052009	0.21232	0.106283404	0.25131	0.09052009	0.21232	-4.365	0.29078	T	.	.	0.096	0.15520	B	.;.;.	.;.;.	-0.016838	0.04166	1.004	0.69597972690095622	0.09023	0.28411	0.23546	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.998574886012294	0.37226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.98	-1.07	0.09459	0.312000	0.19147	0.745000	0.21191	-0.103000	0.15852	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4991:0.164:0.169:0.1679	1.317	0.01981	949	0.11373	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1814.98	39	chrX	9937400	.	G	T	1814.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.430e-01;DP=861;ExcessHet=0.0000;FS=7.203;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.02;ReadPosRankSum=-4.000e-03;SOR=1.120	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1379	20	0	1	0
chrX	10117468	10117468	C	T	exonic	WWC3	.	nonsynonymous SNV	WWC3:NM_015691:exon11:c.C1409T:p.T470M,	.	.	400	1120	1	1	0	3	0.00133749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.999	D	0.002	N	1.000	D	1.645	L	3.42	T	-1.185	T	0.052	T	0.711	3.553	18.12	5.43	2.303	7.248	18.464	0.292	0.0770400133877	.	.	1.486e-05	0	0	0	0	2.771e-05	0	0	6.5e-06	1	154602	rs765649211	1.556e-05	1.548e-05	1.636e-05	1.391e-05	6.664e-05	9.48e-06	7.75e-06	1.103e-05	6.02e-06	3.802e-05	0	0	6.664e-05	0	0	1.429e-05	0	3.723e-05	8.836e-06	8.696e-06	1.284e-05	0	0.0003	0	0	.	.	0	0	0	0	0.0003	0	0	0	0	0	0.046	0.40573	D	0.089	0.40426	T	1.0	0.90584	D	0.999	0.92359	D	0.001604	0.38497	N	0.283366	0.999999	0.58761	D	2.675	0.78361	M	3.42	0.05507	T	-1.92	0.44657	N	0.736	0.73645	-1.1853	0.00297	T	0.052	0.21960	T	10	0.6140379	0.67605	D	0.07704	0.72676	D	0.292	0.61157	0.123	0.02942	0.29893580763	0.29502	0.6007675891983641	0.60007	1.08290478472	0.77186	0.699892401695	0.67128	T	0.007417	0.06827	T	-0.0232532	0.48388	T	-0.271178	0.47701	T	0.815320353319512	0.47428	D	0.943706	0.78720	D	0.10321376	0.24395	0.25681522	0.51387	0.10321376	0.24395	0.25681522	0.51386	-8.558	0.64812	D	.	.	0.202	0.42592	B	.	.	4.085176	0.60795	24.3	0.99867122392064556	0.94547	0.99554	0.97383	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999999984	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.43	5.43	0.79006	7.328000	0.78426	7.517000	0.59705	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.356000	0.25796	0.0:1.0:0.0:0.0	18.464	0.90696	778	0.48011	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1318.08	56	chrX	10117468	.	C	T	1318.08	.	AC=2;AF=0.048;AN=42;DP=766;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.09;SOR=1.121	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	1	0	0
chrX	10134514	10134514	G	A	exonic	WWC3	.	nonsynonymous SNV	WWC3:NM_015691:exon19:c.G2681A:p.R894Q,	.	.	436	1083	2	1	0	4	0.00184332	.	.	706028	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.922	P	0.298	B	0.000	D	0.934	D	1.71	L	1.01	T	-0.949	T	0.085	T	0.247	2.585	14.60	5.71	2.419	4.920	18.936	0.144	.	0.0045	0.0013245	0.0071	0.0009	0.0003	0	0.0172	0.0108	0.0032	0.0010	0.0066364	1026	154602	rs140383059	0.0071	0.0071	0.0071	0.0070	0.0070	0.0069	0.0069	0.0069	0.0068	0.0010	0.0006	0.0366	6.621e-05	0.0172	0.0012	0.0070	0.0074	0.0012	0.0054	0.0055	0.0054	0.0054	0.0065	0.0051	0.0049	0.0060	0.0057	0.0008	0.0677	0.0009	0.0305	0	0.0149	0	0.0065	0.0026	0.0007	0.26	0.16574	T	0.396	0.15206	T	0.922	0.51142	P	0.298	0.40966	B	0.000002	0.62929	D	0.105212	0.934088	0.37076	D	1.75	0.45442	L	1.01	0.41058	T	-1.31	0.32791	N	0.1	0.08227	-0.9488	0.41177	T	0.085	0.33241	T	9	0.004641205	0.00097	T	.	.	.	0.144	0.38394	.	.	0.258436476835	0.25460	0.18088037562314274	0.18007	0.978355093031	0.73635	0.386515796185	0.23177	T	0.00376	0.03171	T	-0.577929	0.00198	T	-0.59497	0.13239	T	0.0434861332178116	0.04326	T	0.732627	0.34815	T	0.12193453	0.28664	0.24543169	0.50031	0.12193453	0.28663	0.24543169	0.50030	-7.102	0.54775	T	.	.	0.094	0.14385	B	.	.	3.328945	0.45818	22.2	0.99112195624981159	0.52750	0.91537	0.53738	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999999999921419	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.71	5.71	0.89031	6.289000	0.72700	3.807000	0.39893	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.931000	0.46843	0.0:0.0:1.0:0.0	18.936	0.92558	728	0.54609	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2725.98	33	chrX	10134514	.	G	A	2725.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=884;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.70;ReadPosRankSum=0.901;SOR=0.682	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1108	20	0	1	0
chrX	10136709	10136709	C	A	exonic	WWC3	.	nonsynonymous SNV	WWC3:NM_015691:exon20:c.C2840A:p.T947N,	.	.	439	1078	4	1	0	6	0.00277521	.	.	706029	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	1.0	D	0.99	D	0.000	D	1.000	D	2.32	M	0.97	T	-0.655	T	0.215	T	0.519	4.259	22.2	5.75	2.432	4.695	18.985	0.160	.	0.0049	0.0013245	0.0073	0.0011	0.0005	0	0.0168	0.0112	0.0048	0.0010	0.0069598	1076	154602	rs55730294	0.0075	0.0075	0.0076	0.0074	0.0075	0.0074	0.0073	0.0074	0.0073	0.0010	0.0009	0.0381	3.311e-05	0.0173	0.0019	0.0075	0.0079	0.0012	0.0057	0.0059	0.0058	0.0055	0.0071	0.0053	0.0052	0.0065	0.0063	0.0009	0.0633	0.0015	0.0303	0	0.0150	0	0.0071	0.0020	0.0008	0.003	0.68238	D	0.005	0.72224	D	1.0	0.90584	D	0.99	0.78936	D	0.000000	0.84330	D	0.044407	0.999991	0.58761	D	2.555	0.74557	M	0.97	0.42502	T	-1.66	0.39692	N	0.492	0.52563	-0.6549	0.62499	T	0.215	0.57692	T	9	0.008772254	0.00199	T	.	.	.	0.160	0.41473	.	.	0.228066490088	0.22430	0.679140680839393	0.67853	1.14735516816	0.79101	0.735113859177	0.72254	T	0.076465	0.35426	T	-0.439609	0.01300	T	-0.396283	0.33817	T	0.0133520005779331	0.00241	T	0.916808	0.70203	D	0.6872154	0.77360	0.6900901	0.81765	0.6872154	0.77362	0.6900901	0.81766	-9.46	0.70610	D	.	.	0.825	0.78481	P	.	.	4.233589	0.64133	24.7	0.99416000710559371	0.63501	0.96174	0.67873	D	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999999999537906	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.75	5.75	0.90390	4.602000	0.60805	5.796000	0.49904	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	18.985	0.92743	728	0.54609	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1320.98	37	chrX	10136709	.	C	A	1320.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.699;DP=847;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=0.465;SOR=0.619	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1032	20	0	1	0
chrX	10469688	10469688	G	A	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294T:p.L432F	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.822e-06	1.821e-06	1.361e-06	2.752e-06	1.847e-05	3e-07	1.1e-07	.	.	0	0	0	0	0	0	1.188e-06	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.06	0.03175	.	.	.	.	.	.	.	0.049869597	0.04636	T	.	.	.	.	.	.	.	0.228066490088	0.22430	.	.	.	.	.	.	.	0.006829	0.06256	T	-0.218282	0.18229	T	-0.551324	0.17198	T	.	.	.	0.334067	0.07092	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31708	B	.	.	1.071713	0.14539	11.11	0.85981199067195402	0.16236	0.02091	0.06209	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999612355279754	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	0.283609	0.34178	4.85	0.652	0.16995	0.121000	0.15496	0.832000	0.21958	0.676000	0.76740	0.066000	0.21956	0.096000	0.22607	0.995000	0.73285	0.4727:0.0:0.3766:0.1507	5.068	0.13928	505	0.75648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2843.69	154	chrX	10469688	.	G	A,C	2843.69	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=-4.097e+00;DP=2076;ExcessHet=7.7275;FS=136.517;InbreedingCoeff=-0.3621;MLEAC=10,1;MLEAF=0.238,0.024;MQ=60.00;MQRankSum=0.00;QD=2.08;ReadPosRankSum=0.424;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,17,0:95:80:0|1:10469688_G_A:80,0,2772,311,2818,3129:10469688	10	0	10	0
chrX	10469688	10469688	G	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294G:p.L432V	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.066	0.03841	.	.	.	.	.	.	.	0.056298643	0.06289	T	.	.	.	.	.	.	.	0.327401308167	0.32341	.	.	.	.	.	.	.	0.002243	0.01642	T	-0.246398	0.14543	T	-0.59171	0.13519	T	.	.	.	0.329867	0.06895	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.20391	B	.	.	2.708854	0.35399	19.89	0.75207624297957498	0.10986	0.17709	0.19954	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999612355279754	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	0.283609	0.34178	4.85	0.652	0.16995	0.121000	0.15496	0.832000	0.21958	0.676000	0.76740	0.066000	0.21956	0.096000	0.22607	0.995000	0.73285	0.4727:0.0:0.3766:0.1507	5.068	0.13928	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2619	2843.69	154	chrX	10469688	.	G	A,C	2843.69	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=-4.097e+00;DP=2076;ExcessHet=7.7275;FS=136.517;InbreedingCoeff=-0.3621;MLEAC=10,1;MLEAF=0.238,0.024;MQ=60.00;MQRankSum=0.00;QD=2.08;ReadPosRankSum=0.424;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,17,0:95:80:0|1:10469688_G_A:80,0,2772,311,2818,3129:10469688	10	0	10	0
chrX	10469690	10469690	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1292G:p.Y431C	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	0.0842	0.246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0089	0.0017	0	0.0014	0.0011	0.0011	0.0013	0.0013	0.0011	5.717e-05	0.0005	0.0003	0	0	0.0014	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.611	0.62781	.	.	.	.	.	.	.	0.5160695	0.62373	D	.	.	.	.	.	.	.	0.702451314445	0.69986	.	.	.	.	.	.	.	0.029078	0.20915	T	-0.0458167	0.45080	T	-0.303589	0.44343	T	.	.	.	0.416058	0.10924	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.48469	B	.	.	1.822216	0.23154	15.91	0.93045119261725329	0.22651	0.71697	0.35125	D	AEFBI	.	.	.	.	.	.	.	.	.	0.99999824567079	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.483522	0.39157	5.6	5.6	0.84997	3.630000	0.54014	4.911000	0.45953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0763:0.0:0.9237	10.887	0.46181	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2895	2549.41	154	chrX	10469690	.	T	C	2549.41	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-3.832e+00;DP=2194;ExcessHet=7.7275;FS=128.174;InbreedingCoeff=-0.4080;MLEAC=12;MLEAF=0.316;MQ=60.00;MQRankSum=0.00;QD=1.85;ReadPosRankSum=0.463;SOR=11.234	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,17:95:80:0|1:10469688_G_A:80,0,2772:10469688	8	0	11	2
chrX	10469693	10469693	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1289G:p.E430G	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	1.0000	0.956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0	0.0002	0.0001	0.0001	0.0002	0.0002	0.0001	0	0.0002	0	0	0	0.0002	0.0002	3.742e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.32144	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.203	0.22486	.	.	.	.	.	.	.	0.24297184	0.41502	T	.	.	.	.	.	.	.	0.747603607226	0.74533	.	.	.	.	.	.	.	0.021315	0.16623	T	0.0253054	0.55096	T	-0.201427	0.54511	T	.	.	.	0.294771	0.05441	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.40457	B	.	.	5.344784	0.89672	31	0.96935891014238906	0.31676	0.98570	0.84213	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999998814	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.899241	0.56623	5.6	5.6	0.84997	7.515000	0.80659	7.688000	0.65646	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.867	0.70064	505	0.75648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2167.81	117	chrX	10469693	.	T	C	2167.81	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-4.149e+00;DP=2021;ExcessHet=4.7172;FS=131.479;InbreedingCoeff=-0.2861;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.93;ReadPosRankSum=0.361;SOR=11.043	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,17:91:91:0|1:10469688_G_A:91,0,2705:10469688	12	0	9	0
chrX	11112065	11112065	G	A	exonic	HCCS	.	nonsynonymous SNV	HCCS:NM_001122608:exon2:c.G5A:p.G2D	Linear skin defects with multiple congenital anomalies 1, X-linked dominant	.	0	1520	1	1	0	3	0.000985869	.	.	134663	not_provided|Inborn_genetic_diseases|not_specified|Intellectual_disability|HCCS-related_disorder	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.001	B	0.003	B	0.000	D	0.999	D	2.485	M	-1.86	D	-0.124	T	0.543	D	0.414	2.275	13.57	4.53	1.057	4.465	9.297	0.331	0.676562575478	0.0022	.	0.0014	0.0004	0.0004	0	0.0002	0.0022	0.0016	0.0011	0.0013648	211	154602	rs144641429	0.0022	0.0022	0.0023	0.0019	0.0026	0.0021	0.0021	0.0026	0.0025	0.0002	0.0002	0	0	0.0002	0.0007	0.0026	0.0017	0.0009	0.0011	0.0011	0.0013	0.0009	0.0022	0.0010	0.0009	0.0019	0.0018	0.0003	0	9.321e-05	0	0	0.0002	0	0.0022	0	0.0007	0.026	0.46910	D	0.035	0.52389	D	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.054274	0.998941	0.45735	D	2.42	0.70002	M	-1.86	0.84341	D	-2.34	0.51811	N	0.39	0.43126	-0.1241	0.79538	T	0.543	0.83161	D	10	0.049010843	0.04429	T	0.676563	0.97313	D	0.331	0.65325	.	.	0.803966197169	0.80213	0.6634977496614873	0.66286	1.29567970477	0.82900	0.751214146614	0.74625	T	0.34696	0.71515	T	-0.282634	0.10391	T	-0.178905	0.56625	T	0.0503766115978964	0.05565	T	0.448855	0.12628	T	0.51478153	0.67958	0.34262463	0.59986	0.51478153	0.67959	0.34262463	0.59985	-8.419	0.63891	D	.	.	0.183	0.39731	B	.;.;.	.;.;.	4.207182	0.63535	24.6	0.99671850929441108	0.78652	0.82255	0.41510	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999989352261	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4	4.53	0.55009	4.539000	0.60368	11.363000	0.92593	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.218000	0.22407	0.1016:0.0:0.8984:0.0	9.297	0.36983	491	0.76657	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	1349.98	33	chrX	11112065	.	G	A	1349.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.740e-01;DP=800;ExcessHet=0.0000;FS=1.528;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=-5.600e-02;SOR=0.529	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1094	20	0	1	0
chrX	11139069	11139069	G	C	exonic	ARHGAP6	.	nonsynonymous SNV	ARHGAP6:NM_001287242:exon13:c.C2179G:p.P727A	.	.	.	.	.	.	.	.	.	.	.	729364	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.538	N	1.000	N	-1.5	N	2.11	T	-0.960	T	0.012	T	0.035	-0.708	0.947	4.11	0.351	0.222	6.010	0.108	.	.	0.0010596	0.0019	0.0002	0.0120	0.0049	0	0	0	0	0.0011513	178	154602	rs199981819	0.0005	0.0005	0.0006	0.0005	0.0103	0.0005	0.0005	0.0095	0.0091	3.803e-05	0.0103	0	0.0060	5.179e-05	0.0003	7.153e-06	0.0006	1.879e-05	0.0008	0.0008	0.0008	0.0007	0.0067	0.0007	0.0006	0.0055	0.0050	6.417e-05	0	0.0067	0	0.0031	0	0	3.76e-05	0.0013	0	1.0	0.00964	T	0.76	0.04636	T	0.0	0.02946	B	0.0	0.01387	B	0.538372	0.11563	N	0.730154	1	0.08975	N	-1.15	0.00907	N	2.11	0.19990	T	0.38	0.03700	N	0.033	0.00882	-0.9600	0.39181	T	0.012	0.04795	T	10	0.0036105216	0.00065	T	.	.	.	0.108	0.30607	.	.	0.082315109003	0.07666	0.1108240936807119	0.11011	0.451114033433	0.44866	0.443554401398	0.31062	T	0.056227	0.30227	T	-0.929754	0.00000	T	-1.09533	0.00030	T	0.00305796263315646	0.00032	T	0.275872	0.04729	T	0.028663063	0.02237	0.06158154	0.11913	0.028663063	0.02237	0.06158154	0.11912	-3.359	0.14510	T	.	.	0.048	0.00086	B	.;.;.	.;.;.	-0.263403	0.02782	0.378	0.1085335959234489	0.00148	0.00079	0.00540	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999853246091289	0.44174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.99	4.11	0.47350	-0.033000	0.12196	0.639000	0.20302	-0.178000	0.10482	0.000000	0.06391	0.142000	0.23101	0.001000	0.02609	0.0:0.5346:0.3024:0.1629	6.010	0.18794	377	0.83897	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1364.98	33	chrX	11139069	.	G	C	1364.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.330e-01;DP=807;ExcessHet=0.0000;FS=1.450;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.37;ReadPosRankSum=2.26;SOR=0.904	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,950	20	0	1	0
chrX	12716812	12716812	T	C	exonic	FRMPD4	.	nonsynonymous SNV	FRMPD4:NM_001368400:exon14:c.T2233C:p.S745P	Mental retardation, X-linked 104, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.979	D	0.776	P	0.000	D	0.652	N	2.255	M	1.03	T	-0.615	T	0.193	T	0.658	3.360	17.32	4.27	0.614	4.702	10.543	0.180	0.088739418457	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338853481	9.107e-07	9.105e-07	0	2.752e-06	1.847e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.007	0.69154	D	0.979	0.59044	D	0.776	0.57120	P	0.000001	0.84330	D	0.057733	0.652005	0.30525	N	1.895	0.50365	L	1.03	0.40469	T	-3.46	0.67705	D	0.587	0.60749	-0.6146	0.64213	T	0.193	0.54652	T	10	0.359742	0.52635	T	0.088739	0.75192	D	0.180	0.45073	0.107	0.01868	0.380930846314	0.37709	0.5519977185251784	0.55125	0.559114294219	0.52467	0.63764321804	0.58229	T	0.331872	0.70190	T	-0.133833	0.30876	T	-0.279725	0.46831	T	0.85785698890686	0.50857	D	0.934107	0.77228	D	0.8263521	0.85651	0.77223194	0.86556	0.8263521	0.85652	0.77223194	0.86557	-11.273	0.81134	D	.	.	0.932	0.86185	P	.;.	.;.	3.417952	0.47442	22.5	0.99851779212092451	0.93102	0.83106	0.42252	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.969276807818116	0.29116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.56	4.27	0.50009	4.682000	0.61360	2.581000	0.33416	0.644000	0.52426	1.000000	0.71638	0.998000	0.33993	0.989000	0.64315	0.1748:0.0:0.0:0.8252	10.543	0.44234	728	0.54609	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2887.98	42	chrX	12716812	.	T	C	2887.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.416e+00;DP=1000;ExcessHet=0.0000;FS=0.475;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=-4.660e-01;SOR=0.632	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1137	20	0	1	0
chrX	12717058	12717058	A	G	exonic	FRMPD4	.	nonsynonymous SNV	FRMPD4:NM_001368400:exon14:c.A2479G:p.N827D	Mental retardation, X-linked 104, X-linked recessive	.	0	1508	9	5	0	19	0.0062603	.	.	430646	FRMPD4-related_disorder|not_provided|Intellectual_disability,_X-linked_104|not_specified	.|MedGen:C3661900|MONDO:MONDO:0010509,MedGen:C4310817,OMIM:300983|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.285	N	1.000	N	-1.11	N	3.99	T	-0.917	T	0.003	T	0.013	-1.430	0.021	2.31	0.650	3.540	2.963	0.127	0.00466269280194	0.0004	.	0.0008	0	0.0002	0	0	0.0004	0	0.0047	0.0007438	115	154602	rs144170600	0.0004	0.0004	0.0003	0.0006	0.0036	0.0004	0.0004	0.0032	0.0030	3.798e-05	0.0001	0.0008	0	0	0.0029	0.0002	0.0006	0.0036	0.0002	0.0002	0.0002	0.0003	0.0029	0.0002	0.0001	0.0015	0.0011	0	0	9.268e-05	0	0	0	0.0046	0.0003	0.0006	0.0029	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.284958	0.14875	N	0.691114	1	0.08975	N	-0.5	0.02616	N	3.99	0.03268	T	1.76	0.00537	N	0.055	0.02658	-0.9170	0.45958	T	0.003	0.01026	T	10	0.0034191012	0.00060	T	0.004663	0.11566	T	0.127	0.34888	.	.	0.102598925029	0.09809	0.22814520993983353	0.22729	0.13938543643	0.15712	0.29274636507	0.09324	T	0.026038	0.19349	T	-0.898799	0.00000	T	-1.06412	0.00053	T	0.00939057609111446	0.00120	T	0.755224	0.38228	T	0.048890706	0.08593	0.063534744	0.12599	0.06173202	0.12814	0.05236436	0.08610	-1.722	0.02287	T	.	.	0.052	0.01011	B	.;.	.;.	0.744961	0.11144	7.787	0.2761504721403451	0.01379	0.30211	0.24024	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.0168536438238652	0.12882	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.15	2.31	0.27816	3.645000	0.54129	0.979000	0.23112	0.731000	0.85647	0.999000	0.42656	0.000000	0.08366	0.975000	0.56047	0.2928:0.3853:0.3219:0.0	2.963	0.05537	728	0.54609	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.04762	1354.08	42	chrX	12717058	.	A	G	1354.08	.	AC=2;AF=0.048;AN=42;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.03;SOR=1.845	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1137	20	1	0	0
chrX	12718224	12718224	C	T	exonic	FRMPD4	.	nonsynonymous SNV	FRMPD4:NM_001368400:exon15:c.C3278T:p.A1093V	Mental retardation, X-linked 104, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.054	B	0.021	B	0.471	N	1.000	N	0.895	L	3.39	T	-0.938	T	0.012	T	0.107	0.609	7.279	2.48	0.522	1.493	2.349	0.053	0.00380834086709	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.134	0.34241	T	0.047	0.21998	B	0.016	0.17743	B	0.470653	0.12282	N	0.762842	1	0.08975	N	1.1	0.28011	L	3.39	0.05710	T	-0.55	0.16799	N	0.124	0.24385	-0.9381	0.42916	T	0.012	0.04605	T	10	0.07210633	0.10720	T	0.003808	0.08899	T	0.053	0.14996	0.071	0.00418	0.0934897674506	0.08844	0.08493248323452295	0.08427	0.129402363924	0.14588	0.355121076107	0.18673	T	0.02072	0.16263	T	-0.456533	0.01033	T	-0.893554	0.00549	T	0.0704419715575141	0.08713	T	0.834817	0.50404	T	0.05376618	0.10221	0.099254824	0.23692	0.05376618	0.10220	0.099254824	0.23692	-4.168	0.26286	T	.	.	0.069	0.03552	B	.;.	.;.	1.120187	0.15057	11.55	0.90321634621286806	0.19587	0.22583	0.21795	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00667970021508641	0.11279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.55	2.48	0.29194	2.115000	0.41544	0.268000	0.16624	-0.243000	0.07376	0.980000	0.35271	0.000000	0.08366	0.937000	0.47636	0.3505:0.4193:0.1239:0.1063	2.349	0.04017	719	0.55657	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2231.98	137	chrX	12718224	.	C	T	2231.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.290e-01;DP=852;ExcessHet=0.0000;FS=0.659;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.29;ReadPosRankSum=0.586;SOR=0.765	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1151	20	0	1	0
chrX	12718520	12718520	G	A	exonic	FRMPD4	.	nonsynonymous SNV	FRMPD4:NM_001368400:exon15:c.G3574A:p.A1192T	Mental retardation, X-linked 104, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.839	P	0.367	B	0.000	D	0.885	N	2.08	M	3.19	T	-1.094	T	0.033	T	0.275	3.201	16.72	2.58	0.485	3.569	15.943	0.103	0.0678945226147	.	.	1.155e-05	0	0	0	0	2.119e-05	0	0	3.84e-05	1	26028	rs768228332	9.188e-07	9.109e-07	1.362e-06	0	2.842e-05	0	0	.	.	0	2.842e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.144	0.33109	T	0.839	0.46454	P	0.367	0.43430	B	0.000058	0.53742	D	0.163605	0.885176	0.27980	N	1.67	0.42885	L	3.19	0.07353	T	-0.62	0.18248	N	0.523	0.55280	-1.0942	0.04869	T	0.033	0.14029	T	10	0.23688617	0.40778	T	0.067895	0.70296	D	0.103	0.29403	0.083	0.00760	0.325139982731	0.32122	0.19706596818510957	0.19623	0.185139718776	0.20815	0.538969874382	0.44299	T	0.031507	0.22075	T	-0.369114	0.03639	T	-0.655493	0.08574	T	0.333898319890039	0.26381	T	0.872813	0.59406	D	0.29944053	0.52854	0.5086039	0.71601	0.29944053	0.52854	0.5086039	0.71602	-3.183	0.12274	T	.	.	0.081	0.12891	B	.;.	.;.	2.752062	0.36079	20.2	0.9977408185297395	0.86174	0.93763	0.59121	D	AEFBI	.	.	.	.	.	.	.	.	.	0.0455109711929256	0.14654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.46	2.58	0.30011	3.639000	0.54079	2.963000	0.35764	0.654000	0.53741	1.000000	0.71638	0.999000	0.35428	0.878000	0.41950	0.0:0.3682:0.6317:0.0	15.943	0.79559	709	0.56835	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2735.98	138	chrX	12718520	.	G	A	2735.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.556e+00;DP=997;ExcessHet=0.0000;FS=1.912;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.19;ReadPosRankSum=-1.788e+00;SOR=0.579	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1151	20	0	1	0
chrX	12885765	12885765	A	T	exonic	TLR7	.	nonsynonymous SNV	TLR7:NM_016562:exon3:c.A257T:p.H86L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.0	B	0.002	B	0.092	N	1.000	N	0.49	N	4.38	T	-0.907	T	0.006	T	0.318	0.585	7.160	-3.25	-0.233	0.001	8.054	0.033	0.00574518385078	.	.	1.14e-05	0	0	0	0	0	0	9.882e-05	6.5e-06	1	154602	rs200654867	1.002e-05	1.002e-05	4.084e-06	2.2e-05	0.0001	5.37e-06	3.93e-06	7.331e-05	5.269e-05	0	0	0	0	0	0	0	6.508e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.321	0.19073	T	0.0	0.02946	B	0.002	0.06944	B	0.091930	0.02463	N	1.783810	1	0.08975	N	0.4	0.12274	N	4.38	0.02255	T	-1.91	0.44471	N	0.069	0.04188	-0.9072	0.47191	T	0.006	0.02055	T	10	0.055446893	0.06063	T	0.005745	0.14892	T	0.033	0.08068	0.369	0.37850	0.218628672733	0.21463	0.3884372418017107	0.38758	0.858969444807	0.68879	0.30810546875	0.11621	T	0.144956	0.48184	T	-0.585803	0.00178	T	-0.78305	0.02362	T	0.0444310689700682	0.04499	T	0.747625	0.36808	T	0.113075316	0.26709	0.12222741	0.29485	0.113075316	0.26709	0.12222741	0.29484	-2.795	0.08138	T	.	.	0.071	0.03773	B	.	.	0.276105	0.06533	3.017	0.82222494587878137	0.14081	0.08941	0.14792	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999909739842815	0.45458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.79	-3.25	0.04765	-0.000000	0.12910	0.097000	0.14596	0.743000	0.86499	0.000000	0.06391	0.000000	0.08366	0.916000	0.45140	0.5508:0.2011:0.248:0.0	8.054	0.29757	728	0.54609	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	4223.08	45	chrX	12885765	.	A	T	4223.08	.	AC=2;AF=0.048;AN=42;DP=898;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.74;SOR=0.876	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1168	20	1	0	0
chrX	15522476	15522476	C	T	exonic	BMX	.	nonsynonymous SNV	BMX:NM_001320866:exon7:c.C641T:p.A214V	.	.	433	1057	23	8	1	40	0.0181143	.	.	743261	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.959	D	0.499	P	0.210	N	1.000	N	0	N	-1.0	T	-0.864	T	0.183	T	0.179	0.200	5.078	0.235	0.288	1.085	.	0.158	.	0.0006	0.00370861	0.0027	0.0001	0.0002	0.0002	0	0.0006	0.0063	0.0198	0.0026002	402	154602	rs139052738	0.0015	0.0015	0.0011	0.0025	0.0222	0.0015	0.0014	0.0212	0.0207	7.577e-05	0.0002	0.0001	0.0001	0.0003	0.0140	0.0004	0.0019	0.0222	0.0009	0.0010	0.0008	0.0013	0.0181	0.0008	0.0007	0.0141	0.0127	0.0002	0	0.0011	0	0.0003	0.0005	0.0138	0.0005	0.0026	0.0181	0.137	0.25979	T	0.237	0.24621	T	0.959	0.55135	D	0.499	0.47621	P	0.209796	0.16393	N	0.576167	1	0.08975	N	0.345	0.11182	N	-1.0	0.76037	T	-0.97	0.25770	N	0.052	0.35088	-0.8640	0.50973	T	0.183	0.53072	T	9	0.005443424	0.00120	T	.	.	.	0.158	0.41098	.	.	0.661701156416	0.65886	0.46092058594209284	0.46010	0.337740173054	0.35759	0.373524010181	0.21337	T	0.382234	0.74436	T	-0.548226	0.00299	T	-0.544009	0.17905	T	0.013524032975968	0.00248	T	0.611339	0.23205	T	0.0888372	0.20737	0.13703261	0.32767	0.0888372	0.20737	0.13703261	0.32766	-6.314	0.48832	T	.	.	0.070	0.03515	B	.;.;.	.;.;.	0.382952	0.07547	4.199	0.87475868707982296	0.17254	0.24757	0.22492	N	AEFBI	.	.	.	.	.	.	.	.	.	0.988818379006204	0.31637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.235	0.14697	0.756000	0.26084	0.203000	0.15874	-0.370000	0.05448	0.461000	0.26652	0.000000	0.08366	0.573000	0.30723	.	.	.	116	0.95299	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2036.08	37	chrX	15522476	.	C	T	2036.08	.	AC=2;AF=0.048;AN=42;DP=753;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.81;SOR=0.822	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1100	20	1	0	0
chrX	15556109	15556109	T	C	exonic	BMX	.	nonsynonymous SNV	BMX:NM_001320866:exon19:c.T1987C:p.S663P	.	.	442	1075	4	1	0	6	0.00278293	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.985	D	0.822	P	0.001	D	0.725	N	1.905	M	-2.56	D	0.062	D	0.669	D	0.695	3.331	17.21	2.05	-0.006	0.943	6.093	0.673	0.202106597595	.	.	8.021e-05	0	0	0	0	0.0001	0	0.0002	7.12e-05	11	154602	rs760164275	5.121e-05	5.099e-05	5.041e-05	5.285e-05	0.0005	4.044e-05	3.634e-05	8.57e-05	3.643e-05	0	0	0	0	0	0.0005	5.356e-05	0.0001	5.659e-05	1.779e-05	1.74e-05	1.285e-05	2.89e-05	0.0004	2.95e-06	1.11e-06	.	.	0	0	0	0	0	0	0	1.876e-05	0	0.0004	0.205	0.20002	T	0.268	0.22494	T	0.985	0.61118	D	0.822	0.59150	P	0.000756	0.42006	D	0.107041	0.724632	0.29888	N	2.55	0.74443	M	-2.56	0.89627	D	-2.63	0.56466	D	0.101	0.25006	0.062	0.83472	D	0.669	0.88534	D	10	0.5056955	0.61805	D	0.202107	0.86802	D	0.673	0.87917	0.626	0.76141	0.972217700409	0.97191	0.9604180120393544	0.96027	1.07698736004	0.77008	0.444690942764	0.31218	T	0.754763	0.93308	D	0.0132212	0.53465	T	0.0456433	0.73296	D	0.19635497033596	0.20212	T	0.463654	0.13513	T	0.8658956	0.88540	0.7092459	0.82852	0.8658956	0.88541	0.7092459	0.82853	-7.656	0.58701	D	.	.	0.489	0.64067	A	.;.;.	.;.;.	2.581613	0.33471	19.35	0.99779208548681053	0.86606	0.63656	0.32158	D	AEFDI	.	.	.	.	.	.	.	.	.	0.852189575596103	0.25065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.98	2.05	0.25860	1.127000	0.30970	1.603000	0.27594	0.665000	0.62972	0.870000	0.30794	0.980000	0.30356	0.967000	0.53440	0.1539:0.0:0.2944:0.5518	6.093	0.19228	118	0.95237	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1342.08	34	chrX	15556109	.	T	C	1342.08	.	AC=2;AF=0.048;AN=42;DP=727;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.95;SOR=1.127	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,810	20	1	0	0
chrX	16123996	16123996	C	T	exonic	GRPR	.	nonsynonymous SNV	GRPR:NM_005314:exon1:c.C43T:p.H15Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.248	N	1.000	N	1.1	L	1.29	T	-1.048	T	0.055	T	0.086	0.375	6.035	-1.3	-0.150	-0.076	4.651	0.149	0.102066324985	.	0.000264901	2.285e-05	0.0002	0	0	0	0	0	0	1.94e-05	3	154602	rs192252725	1.371e-05	1.366e-05	1.089e-05	1.947e-05	0.0002	8.23e-06	6.53e-06	8.61e-05	6.447e-05	0.0001	2.841e-05	0	0	0	0	0	4.35e-05	0.0002	2.693e-05	2.612e-05	2.572e-05	2.973e-05	9.78e-05	7.16e-06	2.98e-06	2.591e-05	1.418e-05	9.78e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.247597	0.03625	N	1.472120	1	0.08975	N	0.345	0.11182	N	1.29	0.35775	T	-0.03	0.07444	N	0.096	0.07673	-1.0480	0.14960	T	0.055	0.23186	T	10	0.022175014	0.00547	T	0.102066	0.77532	D	0.149	0.39377	.	.	0.517983797298	0.51440	0.5172656547949241	0.51649	0.394429896476	0.40597	0.26572728157	0.05591	T	0.110999	0.42615	T	-0.65249	0.00070	T	-0.915354	0.00403	T	0.00216764405370507	0.00022	T	0.417258	0.10990	T	0.044368282	0.07080	0.06320388	0.12486	0.044368282	0.07080	0.06320388	0.12486	-3.328	0.14100	T	.	.	0.086	0.10835	B	.	.	0.151370	0.05437	1.907	0.51451038584542763	0.04565	0.04848	0.10581	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.99992117201726	0.46280	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.54	-1.3	0.08777	-0.048000	0.11898	-0.254000	0.10482	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.988000	0.63387	0.4955:0.201:0.0:0.3035	4.651	0.11979	440	0.80101	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1070.98	43	chrX	16123996	.	C	T	1070.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.684;DP=799;ExcessHet=0.0000;FS=0.832;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=-3.070e-01;SOR=0.877	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1287	20	0	1	0
chrX	16743773	16743773	G	A	exonic	SYAP1	.	nonsynonymous SNV	SYAP1:NM_032796:exon5:c.G508A:p.V170M,	.	.	.	.	.	.	.	.	.	.	.	3324035	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	0.997	D	0.912	D	0.001	D	1.000	N	1.63	L	0.95	T	-0.949	T	0.167	T	0.354	1.972	12.55	2.62	0.131	1.413	10.05	0.136	0.0228816153272	.	0.000529801	0.0002	0	0	0	0	0	0.0016	0.0013	0.0001552	24	154602	rs753989361	6.198e-05	6.192e-05	4.22e-05	0.0001	0.0009	4.966e-05	4.544e-05	0.0007	0.0006	0.0001	0	0	6.624e-05	0	0.0002	1.189e-05	4.342e-05	0.0009	5.399e-05	5.228e-05	6.43e-05	2.996e-05	0.0015	2.337e-05	1.572e-05	0.0005	0.0003	3.262e-05	0	0	0	0	0	0	1.886e-05	0	0.0015	0.064	0.36509	T	0.124	0.35455	T	0.815	0.45525	P	0.353	0.42910	B	0.000516	0.43753	D	0.194562	0.999955	0.19072	N	1.565	0.39561	L	0.95	0.43279	T	-2.19	0.49352	N	0.137	0.13484	-0.9491	0.41126	T	0.167	0.50518	T	10	0.031309187	0.01265	T	0.022882	0.45806	T	0.136	0.36778	.	.	0.248133497653	0.24425	0.28687057455757864	0.28600	1.2898225746	0.82758	0.577115118504	0.49679	T	0.164472	0.50994	T	-0.540807	0.00331	T	-0.600049	0.12806	T	0.307818502187729	0.25324	T	0.909109	0.67839	D	0.08394922	0.19409	0.20758939	0.45023	0.08394922	0.19409	0.20758939	0.45022	-8.611	0.65162	D	.	.	0.169	0.37102	B	.	.	2.608427	0.33872	19.47	0.99231403115383987	0.56246	0.65373	0.32716	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999979899487421	0.50053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.31	2.62	0.30337	1.663000	0.37045	3.258000	0.37072	-0.110000	0.15115	0.961000	0.33663	1.000000	0.68203	0.433000	0.27516	0.224:0.0:0.776:0.0	10.05	0.41383	377	0.83897	BSD domain|BSD domain|BSD domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1456.98	38	chrX	16743773	.	G	A	1456.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.048;DP=899;ExcessHet=0.0000;FS=4.082;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=-2.850e-01;SOR=0.614	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1008	20	0	1	0
chrX	16946888	16946888	-	GCGGCA	exonic	REPS2	.	nonframeshift insertion	REPS2:NM_001080975:exon1:c.27_28insGCGGCA:p.A17_G18insAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1339902710	0.0002	0.0001	0.0002	0.0001	0.0015	0.0002	0.0001	0.0009	0.0007	0.0014	0.0006	0	0.0015	0.0004	0	0.0001	0.0002	0.0012	0.0005	0.0007	0.0006	0.0005	0.0014	0.0004	0.0004	0.0011	0.0010	0.0014	0	0	0	0.0003	0.0005	0	0.0001	0	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	312.51	4	chrX	16946888	.	G	GGCGGCA	312.51	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.890e-01;DP=175;ExcessHet=0.0000;FS=4.771;InbreedingCoeff=-0.0422;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=34.72;ReadPosRankSum=1.22;SOR=1.739	GT:AD:DP:GQ:PL	0/0:13,0:13:39:0,39,368	20	0	1	0
chrX	18195346	18195346	G	C	exonic	BEND2	.	nonsynonymous SNV	BEND2:NM_153346:exon7:c.C1130G:p.T377R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.127	B	0.024	B	.	.	1.000	N	0	N	1.9	T	-1.029	T	0.020	T	0.086	-1.217	0.064	-6.42	-2.755	-3.001	0.444	0.027	0.00173526466162	.	.	1.142e-05	0	0	0	0	0	0	9.983e-05	1.29e-05	2	154602	rs28496595	2.739e-06	2.732e-06	2.723e-06	2.772e-06	3.716e-05	7.3e-07	2e-07	6.16e-06	2.31e-06	0	0	0	0	0	0	0	2.174e-05	3.716e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.49120	D	0.127	0.26966	B	0.024	0.20255	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.9	0.23486	T	-0.62	0.18248	N	0.122	0.11340	-1.0292	0.20713	T	0.020	0.08266	T	9	0.034395784	0.01646	T	0.001735	0.02908	T	0.027	0.05988	0.16	0.06396	0.0401082797425	0.02173	0.1271170727694236	0.12637	0.228472883328	0.25400	0.256947606802	0.04534	T	0.004097	0.03512	T	-0.670411	0.00055	T	-1.04441	0.00072	T	0.0439442254554685	0.04410	T	0.30417	0.05788	T	0.23005062	0.45753	0.10165418	0.24343	0.23005062	0.45753	0.10165418	0.24342	-3.989	0.23639	T	.	.	0.106	0.19559	B	.	.	-2.232179	0.00059	0.001	0.24050775762914883	0.01045	0.00397	0.01986	N	AEFBI	.	.	.	.	.	.	.	.	.	0.11485875860547	0.16742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.21	-6.42	0.01760	-4.498000	0.00258	-20.000000	0.00162	-2.812000	0.00182	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3453:0.1199:0.1988:0.3361	0.444	0.00457	548	0.72362	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	827.98	34	chrX	18195346	.	G	C	827.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.911;DP=775;ExcessHet=0.0000;FS=1.681;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.90;ReadPosRankSum=0.575;SOR=0.533	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,998	20	0	1	0
chrX	18213851	18213851	T	C	exonic	BEND2	.	nonsynonymous SNV	BEND2:NM_001184767:exon3:c.A299G:p.Q100R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9	T	0.059	B	0.015	B	.	.	1.000	N	0.41	N	0.99	T	-1.005	T	0.044	T	0.074	-0.012	3.951	-1.12	-0.483	-0.404	.	0.012	0.00167615804731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.093e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.991	0.01963	T	0.433	0.13595	T	0.017	0.17573	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	0.99	0.41750	T	-0.57	0.18459	N	0.147	0.14905	-1.0050	0.28457	T	0.044	0.18865	T	8	0.05145091	0.05028	T	0.001676	0.02753	T	0.012	0.01476	0.237	0.16760	0.17948927462	0.17512	0.02640135905788277	0.02590	0.215990113852	0.24126	0.411068975925	0.26605	T	0.008252	0.07584	T	-0.514931	0.00471	T	-0.977439	0.00187	T	0.0515045999738713	0.05762	T	0.564644	0.19916	T	0.21111993	0.43428	0.1432403	0.34049	0.21111993	0.43428	0.1432403	0.34048	-3.863	0.22677	T	.	.	0.088	0.19879	B	.;.	.;.	-0.505508	0.01850	0.149	0.90786952929728337	0.20036	0.00106	0.00678	N	AEFBI	.	.	.	.	.	.	.	.	.	1.55525929034236E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	-1.12	0.09306	-0.408000	0.07232	-0.535000	0.08614	-0.295000	0.06246	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	571	0.70397	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	30.36	12	chrX	18213851	.	T	C	30.36	.	AC=2;AF=0.053;AN=38;DP=147;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6797;MLEAC=1;MLEAF=0.026;MQ=60.00;QD=15.18;SOR=0.693	GT:AD:DP:GQ:PL	0/0:6,0:6:18:0,18,174	18	1	0	2
chrX	18783953	18783953	A	G	exonic	PPEF1	.	nonsynonymous SNV	PPEF1:NM_001377994:exon8:c.A622G:p.I208V	.	.	432	1087	1	2	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.927	P	0.606	P	0.025	N	0.970	D	1.195	L	3.47	T	-1.047	T	0.023	T	0.173	0.356	5.932	2.37	0.559	1.111	11.600	0.055	.	0.0009	0.00397351	0.0030	0.0020	0.0001	0.0002	0	4.173e-05	0	0.0241	0.0028654	443	154602	rs139114772	0.0012	0.0012	0.0009	0.0019	0.0198	0.0011	0.0011	0.0188	0.0184	0.0029	0.0002	0	0	0	0.0012	0.0001	0.0012	0.0198	0.0013	0.0013	0.0011	0.0016	0.0212	0.0011	0.0010	0.0168	0.0152	0.0026	0	0.0003	0	0.0003	0	0	1.881e-05	0.0013	0.0212	0.068	0.37750	T	0.163	0.41913	T	0.178	0.51527	B	0.134	0.50970	B	0.024715	0.26215	N	0.327056	0.969816	0.38754	D	1.37	0.34214	L	3.47	0.05188	T	-0.93	0.24898	N	0.085	0.16168	-1.0472	0.15188	T	0.023	0.09787	T	10	0.009213924	0.00208	T	.	.	.	0.055	0.15663	.	.	0.220282294035	0.21616	0.5834855193303597	0.58277	0.491544495015	0.47843	0.289559006691	0.08858	T	0.441371	0.78593	T	-0.7118	0.00031	T	-0.779633	0.02464	T	0.0327305312076984	0.02427	T	0.718628	0.45664	T	0.18982095	0.40540	0.2190831	0.46635	0.18982095	0.40540	0.2190831	0.46634	-4.45	0.30229	T	.	.	0.066	0.08560	B	.;.;.	.;.;.	0.769400	0.11391	8.006	0.90142149495193125	0.19422	0.74384	0.36388	D	AEFI	.	.	.	.	.	.	.	.	.	8.29222872953695E-5	0.04703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.0	2.37	0.28337	1.147000	0.31213	0.578000	0.19676	0.691000	0.84096	0.896000	0.31333	0.002000	0.18203	0.614000	0.31742	0.3912:0.6088:0.0:0.0	11.600	0.50254	563	0.71062	Calcineurin-like phosphoesterase domain, ApaH type|Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase|Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase;.;Calcineurin-like phosphoesterase domain, ApaH type|Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase|Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1210.98	118	chrX	18783953	.	A	G	1210.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.750e+00;DP=825;ExcessHet=0.0000;FS=2.369;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.26;ReadPosRankSum=-1.220e-01;SOR=0.614	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1138	20	0	1	0
chrX	18924401	18924401	G	C	exonic	PHKA2	.	nonsynonymous SNV	PHKA2:NM_000292:exon16:c.C1694G:p.P565R,	Glycogen storage disease, type IXa1, X-linked recessive;Glycogen storage disease, type IXa2, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.996	D	0.979	D	0.000	D	1.000	D	3.1	M	-2.78	D	0.957	D	0.874	D	0.982	4.516	24.3	5.17	2.284	7.740	17.649	0.943	0.677782639106	.	.	1.14e-05	0	0	0	0	2.085e-05	0	0	6.5e-06	1	154602	rs762376783	2.733e-06	2.732e-06	4.084e-06	0	1.848e-05	7.3e-07	2e-07	4e-07	1.5e-07	0	0	0	0	0	0	2.376e-06	0	1.848e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.04	0.50809	D	0.996	0.68779	D	0.979	0.74454	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.235	0.89610	M	-2.78	0.90962	D	-5.87	0.88630	D	0.93	0.93487	0.957	0.96497	D	0.874	0.95810	D	10	0.96861756	0.96400	D	0.677783	0.97325	D	0.943	0.98816	0.767	0.89452	0.941243362431	0.94063	0.8371376458686497	0.83673	0.843722952952	0.68185	0.671051442623	0.62987	T	0.851276	0.96618	D	0.54216	0.95498	D	0.592835	0.96920	D	0.970961435381408	0.69142	D	0.983002	0.94220	D	0.8023504	0.84056	0.6733631	0.80827	0.8023504	0.84058	0.6733631	0.80828	-14.673	0.95039	D	0.7849019258366935	0.86425	0.619	0.69665	P	.	.	4.376279	0.67425	25.1	0.99864489156126091	0.94276	0.98916	0.88583	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999770325	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.17	5.17	0.70848	7.957000	0.87405	11.844000	0.97886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	17.649	0.88063	146	0.94180	GH15-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	934.98	35	chrX	18924401	.	G	C	934.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.519;DP=774;ExcessHet=0.0000;FS=0.894;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=0.368;SOR=0.518	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,995	20	0	1	0
chrX	19464336	19464336	C	T	exonic	MAP3K15	.	nonsynonymous SNV	MAP3K15:NM_001001671:exon4:c.G596A:p.S199N,	.	.	428	1085	5	4	0	13	0.00595511	.	.	706187	not_provided|MAP3K15-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.16	T	.	.	.	.	0.000	N	1.000	N	1.085	L	2.93	T	-1.053	T	0.019	T	0.076	0.759	8.020	2.61	0.189	1.341	6.784	0.070	.	0.0053	0.00344371	0.0051	0.0001	0.0065	0	0.0007	0.0076	0.0101	0.0006	0.0046183	714	154602	rs55916006	0.0058	0.0058	0.0059	0.0058	0.0097	0.0057	0.0057	0.0073	0.0065	0.0008	0.0050	0.0301	3.312e-05	0.0012	0.0097	0.0061	0.0070	0.0012	0.0044	0.0043	0.0045	0.0041	0.0059	0.0041	0.0039	0.0053	0.0051	0.0007	0	0.0059	0.0281	0	0.0005	0.0140	0.0058	0.0066	0.0023	0.115	0.28520	T	0.23	0.25135	T	.	.	.	.	.	.	0.000003	0.62929	N	0.135509	0.72938	0.31452	N	1.4	0.35362	L	2.93	0.09822	T	-1.4	0.34596	N	0.036	0.01068	-1.0527	0.13655	T	0.019	0.07893	T	8	0.003536582	0.00063	T	.	.	.	0.070	0.20419	.	.	0.298403945805	0.29456	0.5549259637513874	0.55419	0.0496078120372	0.05439	0.454575121403	0.32569	T	0.011514	0.10265	T	-0.809961	0.00006	T	-0.933201	0.00319	T	0.00641915535838144	0.00071	T	0.793521	0.43550	T	0.25714728	0.48757	0.20126945	0.44099	0.25714728	0.48757	0.20126945	0.44098	-4.795	0.34533	T	.	.	0.113	0.22318	B	.	.	0.328042	0.07020	3.582	0.97205353681153728	0.32829	0.64882	0.32552	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.0469937152480588	0.14713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4	2.61	0.30255	1.380000	0.33958	0.505000	0.19029	0.599000	0.40250	0.778000	0.29449	0.063000	0.22074	0.123000	0.19290	0.0:0.5839:0.2651:0.151	6.784	0.22850	937	0.14592	Domain of unknown function DUF4071	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1143.98	69	chrX	19464336	.	C	T	1143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.04;DP=902;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.54;ReadPosRankSum=-1.180e-01;SOR=0.754	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1188	20	0	1	0
chrX	19965629	19965629	C	T	exonic	BCLAF3	.	nonsynonymous SNV	BCLAF3:NM_001367774:exon3:c.G689A:p.R230K	.	.	438	1080	2	2	0	6	0.00277008	.	.	3297985	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.997	D	0.941	D	.	.	0.782	D	1.04	L	2.54	T	-1.051	T	0.066	T	0.248	4.555	24.6	5.54	2.322	3.937	18.545	0.109	0.0366109454092	.	.	3.7e-05	0	0	0	0	4.325e-05	0	0.0002	3.88e-05	6	154602	rs755604161	1.806e-05	1.912e-05	1.403e-05	2.652e-05	0.0018	1.155e-05	9.31e-06	0.0008	0.0006	0	0	0	0	0	0.0018	6.075e-06	4.543e-05	0.0001	8.911e-06	8.702e-06	1.285e-05	0	1.877e-05	0	0	.	.	0	0	0	0	0	0	0	1.877e-05	0	0	0.013	0.54683	D	0.056	0.46632	T	0.997	0.70673	D	0.941	0.67658	D	.	.	.	.	0.782449	0.34284	D	.	.	.	2.54	0.13916	T	-0.73	0.20576	N	0.11	0.09631	-1.0512	0.14064	T	0.066	0.27121	T	8	0.16300723	0.30535	T	0.036611	0.57098	D	0.109	0.30843	0.177	0.08379	0.187035705434	0.18338	0.07377356613028396	0.07314	0.905042441725	0.70802	.	.	.	0.227184	0.59241	T	-0.465345	0.00910	T	-0.636912	0.09896	T	0.381576121726262	0.28243	T	0.823318	0.48387	T	0.4429976	0.63595	0.51573014	0.72019	0.4429976	0.63596	0.51573014	0.72019	-4.072	0.24876	T	.	.	0.133	0.28807	B	.;.	.;.	2.979107	0.39734	21.0	0.99642616834758391	0.76756	0.95074	0.63343	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999967810049	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.54	5.54	0.82907	4.007000	0.56808	2.708000	0.34213	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.545	0.90994	67	0.97183	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1371.08	34	chrX	19965629	.	C	T	1371.08	.	AC=2;AF=0.048;AN=42;DP=736;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.44;SOR=1.666	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	1	0	0
chrX	19966632	19966632	G	C	exonic	BCLAF3	.	nonsynonymous SNV	BCLAF3:NM_001367774:exon2:c.C59G:p.P20R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.919	P	0.682	P	.	.	1.000	N	0.695	N	2.52	T	-1.020	T	0.030	T	0.258	2.692	14.96	4.29	2.412	3.346	2.103	0.099	0.0197514388331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.49117	D	0.281	0.21612	T	0.919	0.50927	P	0.682	0.53531	P	.	.	.	.	0.999715	0.20609	N	.	.	.	2.52	0.14160	T	0.31	0.04022	N	0.159	0.16586	-1.0196	0.23845	T	0.030	0.12892	T	8	0.18049496	0.33236	T	0.019751	0.42191	T	0.099	0.28413	0.224	0.14813	0.0675242888579	0.06100	0.04617323195685326	0.04561	0.823727238072	0.67295	.	.	.	0.140502	0.47507	T	-0.29417	0.09221	T	-0.660331	0.08244	T	0.727342188358307	0.42072	D	0.89671	0.63922	D	0.1763202	0.38538	0.21213081	0.45670	0.1763202	0.38537	0.21213081	0.45669	-2.031	0.03300	T	.	.	0.199	0.46320	B	.;.	.;.	2.758463	0.36172	20.2	0.99560467708738964	0.71707	0.91169	0.52995	D	AEFBI	.	.	.	.	.	.	.	.	.	0.987540898232125	0.31289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.39	4.29	0.50359	3.393000	0.52286	6.491000	0.55760	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2296:0.0:0.4561:0.3144	2.103	0.03460	66	0.97223	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	836.98	33	chrX	19966632	.	G	C	836.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.117e+00;DP=840;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.41;ReadPosRankSum=-1.015e+00;SOR=0.680	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1167	20	0	1	0
chrX	21657161	21657161	T	C	exonic	KLHL34	.	nonsynonymous SNV	KLHL34:NM_153270:exon1:c.A628G:p.T210A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.81	T	0.0	B	0.001	B	0.074	N	1.000	N	0.05	N	-0.61	T	-1.028	T	0.114	T	0.027	-2.082	0.006	1.87	0.090	-0.551	3.847	0.042	0.0340925544555	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.593e-06	4.553e-06	4.099e-06	5.606e-06	7.599e-05	1.35e-06	9.8e-07	1.257e-05	4.7e-06	7.599e-05	0	0	0	0	0	3.575e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.074197	0.21299	N	0.454570	1	0.08975	N	-0.69	0.01958	N	-0.61	0.71779	T	-0.02	0.07299	N	0.02	0.00308	-1.0281	0.21070	T	0.114	0.40467	T	10	0.06323266	0.08205	T	0.034093	0.55442	D	0.042	0.11227	0.306	0.27646	0.846135548866	0.84465	0.18023580858405314	0.17942	0.431046532757	0.43325	0.713771820068	0.69140	T	0.105421	0.41587	T	-0.466791	0.00890	T	-0.908289	0.00446	T	0.027783943127541	0.01657	T	0.275872	0.04729	T	0.02873615	0.02258	0.042047508	0.04918	0.02873615	0.02257	0.042047508	0.04918	-1.144	0.01174	T	.	.	0.053	0.00291	B	.	.	-0.873814	0.00970	0.038	0.29379126417453816	0.01555	0.00713	0.03014	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.419480213224407	0.20279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.76	1.87	0.24559	-0.016000	0.12550	0.046000	0.13935	-0.329000	0.05792	0.000000	0.06391	0.001000	0.17328	0.010000	0.09038	0.2101:0.4176:0.0:0.3724	3.847	0.08448	40	0.97949	BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	1058.08	36	chrX	21657161	.	T	C	1058.08	.	AC=2;AF=0.048;AN=42;DP=725;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.23;SOR=0.869	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1086,105,0	20	1	0	0
chrX	24179554	24179562	GTTGGACAT	-	exonic	ZFX	.	nonframeshift deletion	ZFX:NM_001178084:exon3:c.430_438del:p.G151_V153del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	.	0.0005	0.0013	0.0012	0.0020	0	0.0002	0	0.0004	0.0001153	3	26028	rs746150901	0.0005	0.0005	0.0005	0.0005	0.0040	0.0005	0.0004	0.0034	0.0032	0.0022	0.0009	5.159e-05	0.0040	0	0.0010	0.0004	0.0003	0.0004	0.0006	0.0007	0.0008	0.0003	0.0016	0.0005	0.0005	0.0012	0.0011	0.0016	0	0.0007	0	0.0014	0	0	0.0002	0	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	7808.94	34	chrX	24179553	.	CGTTGGACAT	C	7808.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.095;DP=1235;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.46;ReadPosRankSum=0.128;SOR=0.728	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1172	20	0	1	0
chrX	24179589	24179589	T	A	exonic	ZFX	.	nonsynonymous SNV	ZFX:NM_001178084:exon3:c.T465A:p.H155Q	.	.	1	1492	23	6	0	35	0.0115932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.968	D	0.978	D	0.000	D	1.000	D	1.665	L	0.98	T	-0.934	T	0.177	T	0.532	3.479	17.80	0.040	-0.089	0.293	10.739	0.126	.	0.0008	0.00291391	0.0017	0.0001	0.0005	0.0002	0	0.0011	0.0032	0.0088	0.0017205	266	154602	rs149552647	0.0010	0.0010	0.0008	0.0015	0.0081	0.0010	0.0010	0.0075	0.0072	0	0.0011	5.159e-05	0	2.467e-05	0.0068	0.0007	0.0015	0.0081	0.0013	0.0013	0.0013	0.0013	0.0099	0.0011	0.0011	0.0070	0.0060	0	0.0585	0.0018	0	0	0	0.0092	0.0011	0.0013	0.0099	0.15	0.24661	T	0.083	0.41405	T	0.968	0.56581	D	0.978	0.74104	D	0.000001	0.62929	D	0.000000	1	0.81001	D	2.045	0.56016	M	0.98	0.42122	T	-1.46	0.35792	N	0.233	0.44090	-0.9337	0.43590	T	0.177	0.52225	T	9	0.006497711	0.00147	T	.	.	.	0.126	0.34673	0.679	0.81691	0.373580267183	0.36973	0.6945515287734886	0.69396	0.894647151709	0.70397	0.66638302803	0.62323	T	0.240036	0.60828	T	-0.515621	0.00466	T	-0.507457	0.21577	T	0.049760384138688	0.05459	T	0.666633	0.43272	T	0.36636198	0.58315	0.27621913	0.53565	0.36636198	0.58315	0.27621913	0.53564	-4.367	0.29106	T	.	.	0.107	0.58233	B	.;.;.;.	.;.;.;.	1.961942	0.24919	16.57	0.98773548947936285	0.46017	0.86994	0.46404	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999851452123392	0.44174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.75	0.040	0.13526	0.296000	0.18839	-0.519000	0.08701	0.665000	0.62972	0.999000	0.42656	0.098000	0.22634	1.000000	0.97212	0.0:0.3801:0.0:0.6199	10.739	0.45344	111	0.95468	.;Transcriptional activator, Zfx / Zfy domain;Transcriptional activator, Zfx / Zfy domain;Transcriptional activator, Zfx / Zfy domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	12847.11	34	chrX	24179589	.	T	A	12847.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.29;DP=1594;ExcessHet=0.1072;FS=1.736;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=1.01;QD=14.27;ReadPosRankSum=1.07;SOR=0.571	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1172	19	0	2	0
chrX	24363316	24363316	C	G	exonic	SUPT20HL1	.	nonsynonymous SNV	SUPT20HL1:NM_001136234:exon1:c.C634G:p.Q212E,	.	.	433	1063	15	11	0	37	0.0171059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0026	0.00264901	0.0030	0.0003	0.0009	0.0002	0.0004	0.0028	0.0016	0.0114	0.0028331	438	154602	rs1207579	0.0038	0.0024	0.0030	0.0051	0.0124	0.0036	0.0035	0.0115	0.0111	0.0001	0.0010	0.0041	0	0.0005	0.0061	0.0029	0.0042	0.0124	0.0022	0.0022	0.0022	0.0022	0.0141	0.0020	0.0019	0.0105	0.0093	0.0003	0	0.0016	0.0034	0	0.0005	0.0229	0.0030	0.0039	0.0141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	5661.11	113	chrX	24363316	.	C	G	5661.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.056;DP=1779;ExcessHet=0.1072;FS=2.445;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.00;MQRankSum=-4.130e+00;QD=13.20;ReadPosRankSum=1.16;SOR=0.884	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	19	0	2	0
chrX	24364259	24364259	-	TGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGC:p.A543_P544insA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	4/4:0,0,0,0,41,0,0:41:99:1477,1477,1477,1477,1477,1477,1477,1477,1477,1477,125,125,125,125,0,1477,1477,1477,1477,125,1477,1477,1477,1477,1477,125,1477,1477	8	0	1	0
chrX	24364259	24364259	-	TGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGC:p.A543_P544insAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	4/4:0,0,0,0,41,0,0:41:99:1477,1477,1477,1477,1477,1477,1477,1477,1477,1477,125,125,125,125,0,1477,1477,1477,1477,125,1477,1477,1477,1477,1477,125,1477,1477	8	0	1	0
chrX	24364259	24364259	-	TGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGCTGC:p.A543_P544insAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	4/4:0,0,0,0,41,0,0:41:99:1477,1477,1477,1477,1477,1477,1477,1477,1477,1477,125,125,125,125,0,1477,1477,1477,1477,125,1477,1477,1477,1477,1477,125,1477,1477	8	0	1	0
chrX	24364259	24364259	-	TGCTGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGCTGCTGC:p.A543_P544insAAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	4/4:0,0,0,0,41,0,0:41:99:1477,1477,1477,1477,1477,1477,1477,1477,1477,1477,125,125,125,125,0,1477,1477,1477,1477,125,1477,1477,1477,1477,1477,125,1477,1477	8	0	1	0
chrX	24364259	24364259	-	TGCTGCTGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGCTGCTGCTGC:p.A543_P544insAAAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	4/4:0,0,0,0,41,0,0:41:99:1477,1477,1477,1477,1477,1477,1477,1477,1477,1477,125,125,125,125,0,1477,1477,1477,1477,125,1477,1477,1477,1477,1477,125,1477,1477	8	0	1	0
chrX	24364309	24364312	GCTC	0	exonic	SUPT20HL1	.	.	.	.	.	367	1045	21	4	85	114	0.0136857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	232.24	99	chrX	24364309	.	GCTC	G,*	232.24	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=1.78;DP=1692;ExcessHet=0.3300;FS=2.678;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=59.50;MQRankSum=0.00;QD=1.29;ReadPosRankSum=4.11;SOR=0.435	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:61,0,0:61:70:.:.:0,70,2049,70,2049,2049	18	0	2	0
chrX	24364310	24364336	CTCCTGCTCCTGCTCTAGCTGCTGCTG	0	exonic	SUPT20HL1	.	.	.	.	.	0	189	21	5	11	42	0.0757946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	302.11	99	chrX	24364310	.	CTCCTGCTCCTGCTCTAGCTGCTGCTG	*,C	302.11	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-2.399e+00;DP=1670;ExcessHet=0.3300;FS=3.618;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=1.64;ReadPosRankSum=1.75;SOR=0.430	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0,0:38:99:.:.:0,108,1620,108,1620,1620	18	0	2	0
chrX	24364312	24364336	CCTGCTCCTGCTCTAGCTGCTGCTG	0	exonic	SUPT20HL1	.	.	.	.	.	385	1083	16	7	31	61	0.0136612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1192.61	92	chrX	24364312	.	CCTGCTCCTGCTCTAGCTGCTGCTG	C,*	1192.61	.	AC=2,3;AF=0.067,0.100;AN=30;DP=1677;ExcessHet=0.0454;FS=0.000;InbreedingCoeff=0.1390;MLEAC=3,4;MLEAF=0.100,0.133;MQ=59.73;MQRankSum=0.00;QD=7.18;ReadPosRankSum=1.61;SOR=0.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0,0:38:99:.:.:0,108,1620,108,1620,1620	11	1	0	6
chrX	24364318	24364336	CCTGCTCTAGCTGCTGCTG	0	exonic	SUPT20HL1	.	.	.	.	.	394	1076	19	5	28	57	0.0132967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1389	577.6	63	chrX	24364318	.	CCTGCTCTAGCTGCTGCTG	*,GCTGCTCTAGCTGCTGCTG,C	577.6	.	AC=3,1,1;AF=0.083,0.028,0.028;AN=36;BaseQRankSum=2.10;DP=1497;ExcessHet=0.0454;FS=0.609;InbreedingCoeff=0.2571;MLEAC=3,1,1;MLEAF=0.083,0.028,0.028;MQ=59.49;MQRankSum=0.00;QD=3.68;ReadPosRankSum=3.24;SOR=0.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0,0,0:38:99:.:.:0,108,1620,108,1620,1620,108,1620,1620,1620	14	1	1	3
chrX	24364318	24364318	C	G	exonic	SUPT20HL1	.	nonsynonymous SNV	SUPT20HL1:NM_001136234:exon1:c.C1636G:p.P546A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0020	0.0043	0	0.0192	0.0019	0	0.0008	3.84e-05	1	26028	rs768988575	0.0047	0.0046	0.0067	2.072e-05	0.0056	0.0046	0.0045	0.0055	0.0054	0.0023	0.0002	0.0006	0.0011	0.0002	0.0011	0.0056	0.0040	0.0035	2.646e-05	0.0003	3.634e-05	0	6.576e-05	4.39e-06	1.64e-06	.	.	6.576e-05	0	0	0	0	0	0	2.442e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.1389	577.6	63	chrX	24364318	.	CCTGCTCTAGCTGCTGCTG	*,GCTGCTCTAGCTGCTGCTG,C	577.6	.	AC=3,1,1;AF=0.083,0.028,0.028;AN=36;BaseQRankSum=2.10;DP=1497;ExcessHet=0.0454;FS=0.609;InbreedingCoeff=0.2571;MLEAC=3,1,1;MLEAF=0.083,0.028,0.028;MQ=59.49;MQRankSum=0.00;QD=3.68;ReadPosRankSum=3.24;SOR=0.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0,0,0:38:99:.:.:0,108,1620,108,1620,1620,108,1620,1620,1620	14	1	1	3
chrX	24364323	24364326	TCTA	0	exonic	SUPT20HL1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	236.33	63	chrX	24364323	.	TCTA	*,T	236.33	.	AC=4,1;AF=0.105,0.026;AN=38;BaseQRankSum=1.53;DP=1488;ExcessHet=0.0454;FS=0.604;InbreedingCoeff=0.3023;MLEAC=4,1;MLEAF=0.105,0.026;MQ=59.05;MQRankSum=-5.358e+00;QD=1.50;ReadPosRankSum=2.58;SOR=0.624	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0,0:38:99:.:.:0,108,1620,108,1620,1620	15	1	2	2
chrX	24364324	24364326	CTA	-	exonic	SUPT20HL1	.	nonframeshift deletion	SUPT20HL1:NM_001136234:exon1:c.1642_1644del:p.L548del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0122	.	.	.	.	.	.	.	.	.	.	.	.	rs1181749854	7.466e-06	3.364e-05	8.519e-06	4.995e-06	9.671e-06	2.19e-06	1.59e-06	2.83e-06	2.06e-06	0	0	0	0	0	0	9.671e-06	0	0	4.925e-05	0.0002	5.171e-05	4.309e-05	0.0001	1.65e-05	9.75e-06	7.6e-06	2.84e-06	6.052e-05	0	0.0001	0	0	0	0	4.586e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	236.33	63	chrX	24364323	.	TCTA	*,T	236.33	.	AC=4,1;AF=0.105,0.026;AN=38;BaseQRankSum=1.53;DP=1488;ExcessHet=0.0454;FS=0.604;InbreedingCoeff=0.3023;MLEAC=4,1;MLEAF=0.105,0.026;MQ=59.05;MQRankSum=-5.358e+00;QD=1.50;ReadPosRankSum=2.58;SOR=0.624	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0,0:38:99:.:.:0,108,1620,108,1620,1620	15	1	2	2
chrX	24364336	24364336	G	0	exonic	SUPT20HL1	.	.	.	.	.	397	1074	7	2	42	53	0.00509495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	620.36	63	chrX	24364336	.	G	*,C	620.36	.	AC=4,1;AF=0.105,0.026;AN=38;BaseQRankSum=-2.180e+00;DP=1411;ExcessHet=0.0409;FS=0.000;InbreedingCoeff=0.2222;MLEAC=4,1;MLEAF=0.105,0.026;MQ=59.45;MQRankSum=0.00;QD=3.74;ReadPosRankSum=3.60;SOR=0.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0,0:38:99:.:.:0,108,1620,108,1620,1620	15	1	2	2
chrX	25013663	25013665	GCC	-	exonic	ARX	.	nonframeshift deletion	ARX:NM_139058:exon2:c.330_332del:p.A115del,	Epileptic encephalopathy, early infantile, 1, X-linked recessive;Hydranencephaly with abnormal genitalia, X-linked;Lissencephaly, X-linked 2, X-linked;Mental retardation, X-linked 29 and others, X-linked recessive;Partington syndrome, X-linked recessive;Proud syndrome, X-linked	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	244.17	2	chrX	25013659	.	TGCCGCC	TGCC,T	244.17	.	AC=1,2;AF=0.025,0.050;AN=40;BaseQRankSum=1.92;DP=135;ExcessHet=0.0000;FS=5.119;InbreedingCoeff=0.2734;MLEAC=1,2;MLEAF=0.025,0.050;MQ=60.00;MQRankSum=0.00;QD=15.26;ReadPosRankSum=0.023;SOR=2.252	GT:AD:DP:GQ:PL	0/0:8,0,0:8:21:0,21,315,21,315,315	18	0	1	1
chrX	25013660	25013665	GCCGCC	-	exonic	ARX	.	nonframeshift deletion	ARX:NM_139058:exon2:c.330_335del:p.A114_A115del,	Epileptic encephalopathy, early infantile, 1, X-linked recessive;Hydranencephaly with abnormal genitalia, X-linked;Lissencephaly, X-linked 2, X-linked;Mental retardation, X-linked 29 and others, X-linked recessive;Partington syndrome, X-linked recessive;Proud syndrome, X-linked	.	.	.	.	.	.	.	.	.	.	167602	Developmental_and_epileptic_encephalopathy,_1|Intellectual_disability,_X-linked,_with_or_without_seizures,_arx-related|not_specified|Inborn_genetic_diseases	MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419,Orphanet:777|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs587783197	0.0002	0.0001	0.0002	0.0001	0.0009	0.0001	0.0001	0.0003	0.0002	0.0002	0.0007	0	0.0009	0.0004	0.0008	0.0001	0.0002	7.762e-05	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	9.754e-05	0.0001	0.0001	0.0001	0	9.695e-05	0	0.0006	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	244.17	2	chrX	25013659	.	TGCCGCC	TGCC,T	244.17	.	AC=1,2;AF=0.025,0.050;AN=40;BaseQRankSum=1.92;DP=135;ExcessHet=0.0000;FS=5.119;InbreedingCoeff=0.2734;MLEAC=1,2;MLEAF=0.025,0.050;MQ=60.00;MQRankSum=0.00;QD=15.26;ReadPosRankSum=0.023;SOR=2.252	GT:AD:DP:GQ:PL	0/0:8,0,0:8:21:0,21,315,21,315,315	18	0	1	1
chrX	26194093	26194218	GATGTGGCTGCCAACGGCCAAGATGAGAAAAGTCCAAGCACCTCCCGTGATGCCTCCGTTCCTCAGGAGTCTCAGGGAGCTTCACCCACTGGCTCTCCTGATGCAGGTGTTTCAGGCTCAAAATAT	-	exonic	MAGEB6	.	nonframeshift deletion	MAGEB6:NM_173523:exon2:c.247_372del:p.R98_S139del,	.	.	439	1066	11	5	1	22	0.00975383	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0016	0.0003	0.0002	0.0002	0.0002	0	0.0005	.	.	.	.	0.0007	0.0008	0.0007	0.0008	0.0009	0.0007	0.0007	0.0007	0.0007	0.0009	0.0005	0.0006	0.0008	0.0005	0.0005	0.0008	0.0008	0.0008	0.0002	0.0002	0.0002	3.077e-05	0.0004	0.0001	8.708e-05	0.0002	0.0002	0.0004	0	0	0	0	0.0003	0	9.498e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1269.07	38	chrX	26194092	.	CGATGTGGCTGCCAACGGCCAAGATGAGAAAAGTCCAAGCACCTCCCGTGATGCCTCCGTTCCTCAGGAGTCTCAGGGAGCTTCACCCACTGGCTCTCCTGATGCAGGTGTTTCAGGCTCAAAATAT	C	1269.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.51;DP=1174;ExcessHet=0.1072;FS=0.563;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.68;MQRankSum=-1.737e+00;QD=2.56;ReadPosRankSum=-2.483e+00;SOR=0.630	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485	19	0	2	0
chrX	26194125	26194125	T	0	exonic	MAGEB6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2574.15	38	chrX	26194125	.	T	G,*	2574.15	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=2.38;DP=1363;ExcessHet=0.3300;FS=1.142;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=3.62;ReadPosRankSum=-3.100e-02;SOR=0.763	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0:34:99:.:.:0,99,1485,99,1485,1485	18	0	1	0
chrX	26194489	26194489	T	C	exonic	MAGEB6	.	nonsynonymous SNV	MAGEB6:NM_173523:exon2:c.T643C:p.S215P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.003	B	0.000	N	1.000	N	-2.245	N	3.87	T	-0.927	T	0.002	T	0.095	-1.825	0.009	1.29	0.204	0.031	4.462	0.041	0.012177943643	.	.	4.57e-05	0	0	0	0	6.261e-05	0	0.0001	3.23e-05	5	154602	rs761115892	2.914e-05	2.914e-05	2.859e-05	3.026e-05	3.311e-05	2.108e-05	1.804e-05	1.71e-05	1.46e-05	0	0	0	3.311e-05	2.467e-05	0	2.612e-05	0.0002	1.847e-05	8.982e-06	8.731e-06	1.287e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0007	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.000188	0.48115	N	0.140599	1	0.08975	N	-1.66	0.00382	N	3.87	0.03597	T	4.84	0.00027	N	0.02	0.00308	-0.9268	0.44602	T	0.002	0.00676	T	10	0.021300733	0.00507	T	0.012178	0.30521	T	0.041	0.10877	0.471	0.54537	0.280181792013	0.27631	0.1773923929301382	0.17658	0.022355780132	0.02249	0.478645414114	0.35870	T	0.012851	0.11224	T	-0.667005	0.00057	T	-1.04559	0.00071	T	0.0321573415523542	0.02331	T	0.0760924	0.00560	T	0.058922958	0.11914	0.09069301	0.21282	0.058922958	0.11914	0.09069301	0.21281	-1.013	0.01014	T	.	.	0.044	0.00040	B	.	.	-0.463377	0.01987	0.174	0.088441991798566155	0.00078	0.00019	0.00214	N	AEFI	.	.	.	.	.	.	.	.	.	1.33575917438624E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.1	1.29	0.20717	-0.365000	0.07626	-4.363000	0.02196	-0.213000	0.08312	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.0:0.6554:0.0:0.3446	4.462	0.11090	690	0.58899	MAGE homology domain|MAGE homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	4541.08	38	chrX	26194489	.	T	C	4541.08	.	AC=2;AF=0.048;AN=42;DP=1278;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.32;SOR=0.919	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	1	0	0
chrX	26217656	26217656	G	-	exonic	MAGEB5	.	frameshift deletion	MAGEB5:NM_001271752:exon2:c.355delG:p.R120Gfs*15,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1367775518	1.235e-05	1.184e-05	1.411e-05	8.733e-06	0.0024	6.89e-06	5.31e-06	0.0013	0.0010	0	0	0	0	0	0.0024	3.663e-06	0	0	2.68e-05	2.611e-05	2.57e-05	2.932e-05	5.641e-05	7.12e-06	2.98e-06	1.497e-05	8.15e-06	0	0	0	0	0	0	0	5.641e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4675.05	45	chrX	26217655	.	TG	T	4675.05	.	AC=2;AF=0.048;AN=42;DP=803;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.19;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1200	20	1	0	0
chrX	26217660	26217667	GGATTCAT	-	exonic	MAGEB5	.	frameshift deletion	MAGEB5:NM_001271752:exon2:c.359_366del:p.R120Sfs*41,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1217618603	1.235e-05	1.184e-05	1.411e-05	8.734e-06	0.0025	6.89e-06	5.31e-06	0.0013	0.0010	0	0	0	0	0	0.0025	3.663e-06	0	0	2.679e-05	2.611e-05	2.57e-05	2.927e-05	5.637e-05	7.12e-06	2.97e-06	1.496e-05	8.15e-06	0	0	0	0	0	0	0	5.637e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4700.05	45	chrX	26217659	.	AGGATTCAT	A	4700.05	.	AC=2;AF=0.048;AN=42;DP=805;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=35.74;SOR=0.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1200	20	1	0	0
chrX	27461150	27461150	A	G	exonic	PPP4R3C	.	nonsynonymous SNV	PPP4R3C:NM_207319:exon1:c.T2147C:p.M716T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1322284941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.105e-06	8.717e-06	0	3.115e-05	0.0003	0	0	.	.	0	0	0	0	0.0003	0	0	0	0	0	.	.	.	.	.	.	0.495	0.37059	P	0.119	0.32162	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11166775	0.20918	T	.	.	.	.	.	.	.	.	.	0.15122067964296554	0.15044	.	.	.	.	.	0.011165	0.09998	T	.	.	.	.	.	.	.	.	.	0.254675	0.03932	T	0.085510105	0.19838	0.18935868	0.42278	0.085510105	0.19838	0.18935868	0.42277	-7.07	0.54544	T	.	.	0.152	0.33550	B	.	.	0.170964	0.05600	2.054	0.36469722755902256	0.02348	0.02803	0.07526	N	AEFGI	.	.	.	.	.	.	.	.	.	2.85801316901351E-5	0.03498	.	.	.	.	.	.	.	.	.	.	.	.	0.0505976	0.09843	4.16	-3.36	0.04606	0.270000	0.18372	-0.776000	0.07475	-0.388000	0.05360	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2215:0.413:0.0896:0.2759	2.121	0.03500	681	0.59854	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05882	34.33	61	chrX	27461150	.	A	G	34.33	.	AC=2;AF=0.059;AN=34;DP=61;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.1531;MLEAC=2;MLEAF=0.059;MQ=60.00;QD=17.17;SOR=0.693	GT:AD:DP:GQ:PL	./.	16	1	0	4
chrX	27462734	27462734	G	A	exonic	PPP4R3C	.	nonsynonymous SNV	PPP4R3C:NM_207319:exon1:c.C563T:p.T188I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.79e-05	0	0	0	0	0	0	0.0002	1.29e-05	2	154602	rs770069804	3.944e-05	3.497e-05	4.294e-05	3.345e-05	0.0001	2.433e-05	1.987e-05	3.545e-05	2.146e-05	0	0	0	0	0	0	4.249e-05	8.573e-05	0.0001	1.782e-05	1.741e-05	2.57e-05	0	3.754e-05	2.96e-06	1.11e-06	6.23e-06	2.33e-06	0	0	0	0	0	0	0	3.754e-05	0	0	.	.	.	.	.	.	0.043	0.21573	B	0.101	0.30765	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077360064	0.12200	T	.	.	.	.	.	.	.	.	.	0.2424708315030481	0.24161	.	.	.	.	.	0.016837	0.13838	T	.	.	.	.	.	.	.	.	.	0.70293	0.31283	T	0.055237796	0.10709	0.13711146	0.32783	0.055237796	0.10709	0.13711146	0.32782	-2.945	0.09600	T	.	.	0.120	0.24934	B	.	.	-0.240244	0.02892	0.414	0.43626164288869551	0.03297	0.27767	0.23369	N	AEFGI	.	.	.	.	.	.	.	.	.	0.00105004558953336	0.08159	.	.	.	.	.	.	.	.	.	.	.	.	0.0497025	0.09175	4.68	-4.04	0.03741	1.169000	0.31480	-0.201000	0.10944	-0.116000	0.14526	0.789000	0.29582	0.000000	0.08366	0.005000	0.06747	0.668:0.0:0.332:0.0	12.860	0.57293	637	0.64373	Domain of unknown function DUF625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	57.45	7	chrX	27462734	.	G	A	57.45	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.080e-01;DP=108;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0641;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=8.21;ReadPosRankSum=0.00;SOR=0.446	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,78	19	0	1	1
chrX	27462930	27462930	C	A	exonic	PPP4R3C	.	stopgain	PPP4R3C:NM_207319:exon1:c.G367T:p.E123X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.706160	0.93143	33	0.47978293668109429	0.03966	0.98124	0.79803	D	AEFDI	.	.	.	.	.	.	.	.	.	0.379229754163445	0.19945	.	.	.	.	.	.	.	.	.	.	.	.	0.639608	0.41554	4.68	3.82	0.43153	5.957000	0.70042	1.013000	0.23346	0.599000	0.40250	1.000000	0.71638	0.057000	0.21958	0.013000	0.09966	0.0:0.8965:0.0:0.1035	9.763	0.39713	637	0.64373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	38.63	58	chrX	27462930	.	C	A	38.63	.	AC=2;AF=0.100;AN=20;DP=58;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3415;MLEAC=2;MLEAF=0.100;MQ=60.00;QD=19.32;SOR=0.693	GT:AD:DP:GQ:PL	./.	9	1	0	11
chrX	27747292	27747300	GAGGAGGAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.397_405del:p.E145_E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	1/1:0,31,0,0,0,0,0:31:94:1371,94,0,1371,94,1371,1371,94,1371,1371,1371,94,1371,1371,1371,1371,94,1371,1371,1371,1371,1371,94,1371,1371,1371,1371,1371	7	4	1	0
chrX	27747295	27747300	GAGGAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.400_405del:p.E146_E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	1/1:0,31,0,0,0,0,0:31:94:1371,94,0,1371,94,1371,1371,94,1371,1371,1371,94,1371,1371,1371,1371,94,1371,1371,1371,1371,1371,94,1371,1371,1371,1371,1371	7	4	1	0
chrX	27747298	27747300	GAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.403_405del:p.E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	1/1:0,31,0,0,0,0,0:31:94:1371,94,0,1371,94,1371,1371,94,1371,1371,1371,94,1371,1371,1371,1371,94,1371,1371,1371,1371,1371,94,1371,1371,1371,1371,1371	7	4	1	0
chrX	27747300	27747300	-	GAGGAG	exonic	DCAF8L2	.	nonframeshift insertion	DCAF8L2:NM_001353450:exon5:c.405_406insGAGGAG:p.E147_Q148insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	1/1:0,31,0,0,0,0,0:31:94:1371,94,0,1371,94,1371,1371,94,1371,1371,1371,94,1371,1371,1371,1371,94,1371,1371,1371,1371,1371,94,1371,1371,1371,1371,1371	7	4	1	0
chrX	27747300	27747300	-	GAGGAGGAGGAGGAGGAG	exonic	DCAF8L2	.	nonframeshift insertion	DCAF8L2:NM_001353450:exon5:c.405_406insGAGGAGGAGGAGGAGGAG:p.E147_Q148insEEEEEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	1/1:0,31,0,0,0,0,0:31:94:1371,94,0,1371,94,1371,1371,94,1371,1371,1371,94,1371,1371,1371,1371,94,1371,1371,1371,1371,1371,94,1371,1371,1371,1371,1371	7	4	1	0
chrX	30251025	30251025	G	A	exonic	MAGEB1	.	nonsynonymous SNV	MAGEB1:NM_177404:exon2:c.G532A:p.V178I	.	.	.	.	.	.	.	.	.	.	.	729561	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.28	T	0.509	P	0.2	B	0.428	N	1.000	N	1.705	L	3.42	T	-0.981	T	0.005	T	0.015	1.078	9.400	0.208	-0.104	-0.161	2.933	0.035	.	0.0092	0.00874172	0.0029	0.0272	0.0012	0	0	2.247e-05	0	0.0001	0.0022445	347	154602	rs34171800	0.0008	0.0008	0.0009	0.0006	0.0283	0.0008	0.0007	0.0266	0.0259	0.0283	0.0013	0	3.311e-05	0	0.0002	1.069e-05	0.0016	3.706e-05	0.0072	0.0075	0.0075	0.0067	0.0257	0.0068	0.0067	0.0242	0.0236	0.0257	0	0.0012	0	0	0	0	1.881e-05	0.0033	0	0.237	0.17881	T	0.215	0.26306	T	0.509	0.37289	P	0.2	0.36839	B	0.427947	0.12785	N	0.715399	1	0.08975	N	1.6	0.40776	L	3.42	0.05507	T	-0.56	0.17003	N	0.024	0.00445	-0.9808	0.34817	T	0.005	0.01833	T	10	0.00405249	0.00079	T	.	.	.	0.035	0.08770	.	.	0.165133752707	0.16062	0.12030859070455724	0.11957	0.0621201125594	0.06914	0.330014139414	0.14937	T	0.024919	0.18734	T	-0.950401	0.00000	T	-1.11565	0.00020	T	0.00331324792060086	0.00035	T	0.332567	0.07018	T	0.05552309	0.10801	0.059663787	0.11235	0.05552309	0.10800	0.059663787	0.11234	-4.794	0.34521	T	.	.	0.101	0.17360	B	.;.;.	.;.;.	-0.283243	0.02691	0.349	0.91048213215118345	0.20300	0.04375	0.09951	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.797540674525431	0.24127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.99	0.208	0.14498	-0.155000	0.10101	-2.673000	0.03482	-0.768000	0.03469	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.3446:0.0:0.4574:0.198	2.933	0.05451	738	0.53389	MAGE homology domain|MAGE homology domain;MAGE homology domain|MAGE homology domain;MAGE homology domain|MAGE homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2710.98	34	chrX	30251025	.	G	A	2710.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=951;ExcessHet=0.0000;FS=2.161;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.11;ReadPosRankSum=1.82;SOR=0.553	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1037	20	0	1	0
chrX	31774105	31774105	A	G	exonic	DMD	.	nonsynonymous SNV	DMD:NM_004013:exon8:c.T17C:p.M6T	Becker muscular dystrophy, X-linked recessive;Cardiomyopathy, dilated, 3B, X-linked;Duchenne muscular dystrophy, X-linked recessive	YES	0	1517	2	3	0	8	0.00262985	.	.	231260	Duchenne_muscular_dystrophy|Cardiomyopathy|Becker_muscular_dystrophy|Dystrophin_deficiency|not_specified|Cardiovascular_phenotype	MONDO:MONDO:0010679,MedGen:C0013264,OMIM:310200,Orphanet:98896|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010311,MedGen:C0917713,OMIM:300376,Orphanet:98895|.|MedGen:CN169374|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.35	T	0.033	B	0.015	B	0.119	U	1.000	N	0.345	N	4.14	T	-1.046	T	0.097	T	0.187	0.749	7.970	3.92	1.682	5.111	9.453	0.065	0.0127229092561	.	0.000264901	0.0001	0	0	0	0	0	0.0016	0.0009	9.7e-05	15	154602	rs764330616	4.373e-05	4.371e-05	3.948e-05	5.232e-05	0.0006	3.386e-05	2.994e-05	0.0004	0.0004	0	0	0	0	0	0.0005	1.188e-05	6.511e-05	0.0006	4.499e-05	4.35e-05	2.57e-05	9.003e-05	0.0015	1.715e-05	1.055e-05	0.0005	0.0003	0	0	0	0	0	0	0	1.884e-05	0	0.0015	0.775	0.33753	T	0.579	0.31730	T	0.003	0.14655	B	0.002	0.17295	B	0.118850	0.19098	U	0.263342	0.999217	0.22071	N	.	.	.	4.14	0.59314	T	0.1	0.07590	N	0.287	0.34767	-1.0463	0.15447	T	0.097	0.36522	T	10	0.022605687	0.00569	T	0.012723	0.31538	T	0.065	0.18881	0.379	0.39482	0.668027028311	0.66522	0.19363568612650628	0.19281	0.0160503617592	0.01538	0.491201877594	0.37605	T	0.216017	0.58251	T	-0.511347	0.00493	T	-0.585278	0.14077	T	0.0624239043498641	0.07545	T	0.735926	0.36463	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	0.50988	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.120826	0.42134	21.5	0.81455851074830066	0.13694	0.91378	0.53413	D	AEFBI	.	.	.	.	.	.	.	.	.	0.77684649623209	0.23767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.08	3.92	0.44525	4.169000	0.58014	9.083000	0.78722	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9154:0.0:0.0846:0.0	9.453	0.37903	832	0.38914	.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1939.98	33	chrX	31774105	.	A	G	1939.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.451e+00;DP=896;ExcessHet=0.0000;FS=0.540;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=-2.640e-01;SOR=0.641	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chrX	32573580	32573580	T	C	exonic	DMD	.	nonsynonymous SNV	DMD:NM_000109:exon15:c.A1738G:p.T580A	Becker muscular dystrophy, X-linked recessive;Cardiomyopathy, dilated, 3B, X-linked;Duchenne muscular dystrophy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	589740	not_provided|Duchenne_muscular_dystrophy	MedGen:C3661900|MONDO:MONDO:0010679,MedGen:C0013264,OMIM:310200,Orphanet:98896	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.28	T	0.0	B	0.003	B	0.308	U	1.000	D	0.69	N	1.34	T	-1.085	T	0.058	T	0.063	0.969	8.956	4.97	1.637	2.061	8.584	0.053	0.00789328035976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.107e-07	9.105e-07	0	2.751e-06	1.188e-06	0	0	.	.	0	0	0	0	0	0	1.188e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.121	0.35970	T	0.0	0.02946	B	0.001	0.04355	B	0.308342	0.14477	U	0.490245	0.999996	0.08975	N	.	.	.	1.34	0.34841	T	-1.12	0.34198	N	0.157	0.16308	-1.0851	0.06389	T	0.058	0.24354	T	10	0.14016235	0.26644	T	0.007893	0.20929	T	0.053	0.14996	0.26	0.20315	0.475088142717	0.47136	0.09046462451222652	0.08979	0.0167627881423	0.01621	0.31932118535	0.13318	T	0.245851	0.62733	T	-0.405164	0.02141	T	-0.819767	0.01457	T	0.0963296050829301	0.11948	T	0.70043	0.33152	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.01834	B	.;.;.;.;.	.;.;.;.;.	1.682529	0.21443	15.20	0.95561966198745429	0.27241	0.86944	0.46341	D	AEFI	.	.	.	.	.	.	.	.	.	0.201485191764815	0.18128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.97	4.97	0.65419	2.248000	0.42812	0.593000	0.19842	0.603000	0.45986	1.000000	0.71638	0.999000	0.35428	0.976000	0.56436	0.0:0.0881:0.0:0.9119	8.584	0.32807	866	0.32446	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2045.98	39	chrX	32573580	.	T	C	2045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.670e-01;DP=888;ExcessHet=0.0000;FS=2.588;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=1.73;SOR=0.652	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1304	20	0	1	0
chrX	34130801	34130801	G	A	exonic	FAM47A	.	nonsynonymous SNV	FAM47A:NM_203408:exon1:c.C1478T:p.S493L,	.	.	.	.	.	.	.	.	.	.	.	3217046	FAM47A-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.0	B	.	.	1.000	N	-0.69	N	2.55	T	-0.966	T	0.007	T	0.036	-0.351	2.343	-1.25	-1.235	-0.722	.	0.007	0.0015378001914	0.0022	0.000794702	0.0023	0	0.0005	0	0.0062	0.0033	0.0071	0	0.0020504	317	154602	rs190486831	0.0011	0.0011	0.0011	0.0012	0.0010	0.0010	0.0010	0.0009	0.0009	3.841e-05	0.0008	0.0018	0	0.0065	0	0.0010	0.0011	1.942e-05	0.0025	0.0026	0.0025	0.0027	0.0039	0.0023	0.0022	0.0034	0.0032	0.0002	0	0.0030	0.0028	0	0.0049	0	0.0039	0	0.0005	0.411	0.10115	T	0.356	0.17166	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.04	0.01097	N	2.55	0.13795	T	-0.46	0.14978	N	0.071	0.04426	-0.9664	0.37934	T	0.007	0.02558	T	8	0.005980909	0.00134	T	0.001538	0.02420	T	0.007	0.00512	.	.	0.043077524339	0.03247	0.13576878025513486	0.13500	0.17354581563	0.19542	0.36725705862	0.20437	T	0.011141	0.09975	T	-0.97305	0.00000	T	-1.16607	0.00005	T	0.00162442425553829	0.00016	T	0.432757	0.21331	T	0.039559294	0.05485	0.08827465	0.20571	0.039559294	0.05485	0.08827465	0.20571	-4.962	0.36425	T	.	.	0.159	0.35247	B	.;.	.;.	-0.159171	0.03305	0.573	0.7881056563717932	0.12462	0.00056	0.00418	N	AEFDBI	.	.	.	.	.	.	.	.	.	3.36339008478036E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625	-1.25	0.08920	-0.984000	0.03865	-5.588000	0.01665	-1.846000	0.00576	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	937	0.14592	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3580.98	34	chrX	34130801	.	G	A	3580.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=1208;ExcessHet=0.0000;FS=1.018;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.58;MQRankSum=-2.908e+00;QD=15.50;ReadPosRankSum=-1.187e+00;SOR=0.613	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,100,1266	20	0	1	0
chrX	34943399	34943399	C	T	exonic	FAM47B	.	nonsynonymous SNV	FAM47B:NM_152631:exon1:c.C568T:p.R190W,	.	.	436	1084	1	1	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.031	B	0.004	B	.	.	1.000	N	0.865	L	1.99	T	-1.000	T	0.030	T	0.223	0.473	6.570	-1.01	-0.443	0.137	2.354	0.039	0.00168380542598	.	.	.	.	.	.	.	.	.	.	.	.	.	rs898061216	6.374e-06	6.374e-06	5.445e-06	8.252e-06	0.0002	2.65e-06	1.7e-06	1.11e-06	7.5e-07	0	0	0	3.311e-05	0	0.0002	4.75e-06	2.169e-05	0	3.632e-05	4.362e-05	2.574e-05	6.167e-05	9.938e-05	1.148e-05	6.72e-06	2.632e-05	1.429e-05	9.938e-05	0	9.568e-05	0	0	0	0	0	0	0	0.005	0.63226	D	0.086	0.40909	T	0.031	0.20130	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.935	0.23595	L	1.99	0.21666	T	-3.53	0.68532	D	0.164	0.17278	-1.0005	0.29774	T	0.030	0.12804	T	9	0.070304126	0.10208	T	0.001684	0.02779	T	0.039	0.10176	0.176	0.08257	0.0401082797425	0.02173	0.08501892401784913	0.08435	0.205576144045	0.22979	0.25547170639	0.04366	T	0.009551	0.08688	T	-0.527042	0.00400	T	-0.8025	0.01840	T	0.041731003701241	0.04006	T	0.483452	0.14697	T	0.15806131	0.35581	0.13685064	0.32727	0.15806131	0.35581	0.13685064	0.32726	-6.186	0.47809	T	.	.	0.159	0.35247	B	.	.	0.953819	0.13303	9.802	0.97431609340445213	0.33931	0.01399	0.04744	N	AEFBI	.	.	.	.	.	.	.	.	.	4.05353629573718E-4	0.06860	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.602	-1.01	0.09650	-0.447000	0.06901	-0.283000	0.10254	0.328000	0.19510	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.3224:0.3537:0.3239:0.0	2.354	0.04028	924	0.18029	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3103.98	35	chrX	34943399	.	C	T	3103.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.412e+00;DP=977;ExcessHet=0.0000;FS=1.129;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.85;ReadPosRankSum=1.13;SOR=0.578	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1032	20	0	1	0
chrX	35919921	35919921	G	A	exonic	CFAP47	.	nonsynonymous SNV	CFAP47:NM_001304548:exon1:c.G122A:p.R41Q	.	.	437	1078	4	3	0	10	0.00461681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.985	D	0.564	P	0.000	N	0.963	N	2.32	M	2.32	T	-1.068	T	0.027	T	0.171	1.827	12.07	3.03	0.398	1.157	6.909	0.117	.	0.0072	0.00768212	0.0034	0.0167	0.0064	0	0	0.0018	0.0036	0.0002	0.002749	425	154602	rs138479255	0.0019	0.0019	0.0019	0.0018	0.0177	0.0018	0.0018	0.0163	0.0158	0.0177	0.0075	0.0078	0	9.881e-05	0.0102	0.0011	0.0042	0.0003	0.0069	0.0072	0.0072	0.0062	0.0166	0.0065	0.0064	0.0154	0.0149	0.0166	0	0.0133	0.0072	0	0.0002	0.0228	0.0016	0.0086	0	0.053	0.38863	T	0.108	0.39492	T	0.985	0.61118	D	0.564	0.49695	P	0.000018	0.62929	N	0.069657	0.962551	0.26061	N	.	.	.	2.32	0.16640	T	-2.69	0.57435	D	0.148	0.15046	-1.0684	0.09768	T	0.027	0.11618	T	10	0.007605523	0.00173	T	.	.	.	0.117	0.32689	.	.	0.381271297758	0.37743	0.2750753668059625	0.27420	0.268327182844	0.29355	.	.	.	0.023256	0.17785	T	-0.689905	0.00042	T	-0.750152	0.03479	T	0.0407871333259104	0.03832	T	0.59884	0.22311	T	0.16299626	0.36413	0.24132113	0.49527	0.16299626	0.36413	0.24132113	0.49526	-3.943	0.22948	T	.	.	0.138	0.31203	B	.;.	.;.	2.105231	0.26786	17.24	0.99689526787376159	0.79842	0.55668	0.29922	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.11997631986766	0.16857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.81	3.03	0.34070	1.402000	0.34209	3.110000	0.36356	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.010000	0.09038	0.2235:0.0:0.7765:0.0	6.909	0.23505	645	0.63593	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1872.98	35	chrX	35919921	.	G	A	1872.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.440;DP=822;ExcessHet=0.0000;FS=2.226;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.52;ReadPosRankSum=-1.024e+00;SOR=0.898	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1195	20	0	1	0
chrX	35951818	35951818	C	A	exonic	CFAP47	.	nonsynonymous SNV	CFAP47:NM_001304548:exon6:c.C901A:p.Q301K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.043	B	0.038	B	0.000	D	1.000	N	1.245	L	2.67	T	-0.960	T	0.023	T	0.098	-1.114	0.131	3.86	1.155	1.055	8.323	0.044	0.0134148013067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.883	0.02526	T	0.183	0.35582	T	0.043	0.21573	B	0.038	0.23361	B	0.000065	0.52346	D	0.162299	0.999906	0.19694	N	.	.	.	2.67	0.12473	T	-0.7	0.19933	N	0.102	0.22998	-0.9601	0.39162	T	0.023	0.09696	T	10	0.07822448	0.12441	T	0.013415	0.32792	T	0.044	0.11924	0.443	0.49975	0.128874641272	0.12493	0.08472470586654056	0.08406	0.589975681144	0.54480	.	.	.	0.005199	0.04646	T	-0.473056	0.00814	T	-0.917289	0.00393	T	0.311117082834244	0.25460	T	0.640436	0.25296	T	0.23298515	0.46095	0.36270618	0.61671	0.23298515	0.46095	0.36270618	0.61670	-1.684	0.02187	T	.	.	0.105	0.23041	B	.;.	.;.	1.401735	0.18160	13.58	0.53933118421568171	0.05037	0.26848	0.23110	N	AEFI	.	.	.	.	.	.	.	.	.	3.58859354726822E-4	0.06668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.76	3.86	0.43689	1.114000	0.30811	3.089000	0.36271	0.599000	0.40250	0.699000	0.28616	0.997000	0.33255	0.255000	0.23391	0.2491:0.3682:0.3827:0.0	8.323	0.31303	595	0.68488	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1575.98	35	chrX	35951818	.	C	A	1575.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.762;DP=823;ExcessHet=0.0000;FS=4.111;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=-9.090e-01;SOR=1.053	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chrX	35967712	35967712	C	T	exonic	CFAP47	.	nonsynonymous SNV	CFAP47:NM_001304548:exon10:c.C1694T:p.S565L	.	.	439	1067	9	7	0	23	0.010663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.999	D	0.964	D	0.004	N	0.971	N	2.32	M	2.09	T	-0.965	T	0.133	T	0.448	2.718	15.05	5.35	2.228	4.779	15.397	0.205	0.303722080294	0.0013	0.000264901	0.0021	0.0002	0.0003	0	0.0007	0.0018	0	0.0085	0.0018046	279	154602	rs139917087	0.0016	0.0016	0.0014	0.0020	0.0081	0.0015	0.0015	0.0075	0.0072	3.796e-05	0.0005	0.0178	0	0.0009	0.0070	0.0010	0.0021	0.0081	0.0011	0.0012	0.0011	0.0012	0.0057	0.0010	0.0009	0.0035	0.0028	9.831e-05	0	0.0008	0.0163	0	0.0009	0	0.0008	0.0046	0.0057	0.003	0.68238	D	0.007	0.74150	D	0.999	0.77913	D	0.964	0.71005	D	0.003573	0.34767	N	0.244508	0.971333	0.25658	N	.	.	.	2.09	0.20122	T	-4.51	0.78222	D	0.545	0.57177	-0.9646	0.38290	T	0.133	0.44603	T	10	0.006130278	0.00138	T	0.303722	0.90966	D	0.205	0.49236	.	.	0.229543500084	0.22568	0.28002470413414443	0.27915	0.496707143037	0.48176	.	.	.	0.112852	0.42944	T	-0.501414	0.00561	T	-0.488878	0.23508	T	0.0567158743217567	0.06641	T	0.794521	0.43681	T	0.20438586	0.42547	0.30867738	0.56886	0.20438586	0.42547	0.30867738	0.56885	-4.05	0.24802	T	.	.	0.143	0.33958	B	.;.	.;.	2.615283	0.33978	19.50	0.99870885436492607	0.94815	0.88401	0.48312	D	AEFI	.	.	.	.	.	.	.	.	.	0.753485858743551	0.23397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.35	5.35	0.76297	5.397000	0.66048	5.881000	0.50644	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.007000	0.07825	0.0:1.0:0.0:0.0	15.397	0.74519	563	0.71062	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1767.98	33	chrX	35967712	.	C	T	1767.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.26;ReadPosRankSum=-4.970e-01;SOR=0.669	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1038	20	0	1	0
chrX	35971591	35971591	G	A	exonic	CFAP47	.	nonsynonymous SNV	CFAP47:NM_001304548:exon12:c.G1976A:p.R659H	.	.	447	1074	1	0	0	1	0.000465333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.001	B	0.001	B	0.068	N	1.000	N	-0.41	N	2.47	T	-1.011	T	0.013	T	0.057	0.276	5.495	-9.83	-2.100	-2.984	2.723	0.027	0.00175221655618	9.5e-05	0.0010596	0.0007	0.0006	0	0	0	0	0.0063	0.0042	0.0002652	41	154602	rs368056515	0.0001	0.0002	0.0001	0.0002	0.0020	0.0001	0.0001	0.0017	0.0016	4.443e-05	4.375e-05	0.0004	0	0	0	3.205e-05	0.0004	0.0020	0.0001	0.0001	0.0001	0.0001	0.0034	8.989e-05	7.263e-05	0.0018	0.0013	0.0002	0	0	0	0	0	0	0	0	0.0034	0.543	0.06735	T	0.594	0.08106	T	0.001	0.07471	B	0.001	0.04355	B	0.068177	0.02219	N	1.717000	1	0.08975	N	.	.	.	2.47	0.14783	T	0.96	0.01488	N	0.059	0.03069	-1.0109	0.26635	T	0.013	0.05273	T	10	0.0041236877	0.00081	T	0.001752	0.02960	T	0.027	0.05988	.	.	0.0675242888579	0.06100	0.10274574321488049	0.10204	0.12962816573	0.14613	.	.	.	0.003781	0.03191	T	-0.962558	0.00000	T	-1.1619	0.00006	T	0.00344381233506439	0.00036	T	0.304969	0.05824	T	0.028730648	0.02255	0.029936593	0.01387	0.028730648	0.02255	0.029936593	0.01387	-4.777	0.34322	T	.	.	0.072	0.04436	B	.;.	.;.	-1.671334	0.00207	0.003	0.42894575922686357	0.03192	0.00489	0.02319	N	AEFI	.	.	.	.	.	.	.	.	.	0.99011909196719	0.32043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.72	-9.83	0.00400	-2.737000	0.00871	-1.872000	0.04576	-0.740000	0.03671	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.4488:0.1759:0.2725:0.1028	2.723	0.04885	571	0.70397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	165.98	24	chrX	35971591	.	G	A	165.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.034;DP=428;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0247;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.22;ReadPosRankSum=-4.200e-01;SOR=0.665	GT:AD:DP:GQ:PL	0/0:14,0:14:42:0,42,426	20	0	1	0
chrX	36071879	36071879	A	T	exonic	CFAP47	.	nonsynonymous SNV	CFAP47:NM_001304548:exon28:c.A4373T:p.D1458V,	.	.	436	1082	4	0	0	4	0.00184502	.	.	3206736	CFAP47-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.004	B	0.001	B	0.096	N	1.000	N	0.345	N	.	.	-1.057	T	0.047	T	0.158	1.190	9.838	-0.799	-0.268	0.635	0.365	0.035	0.00416932569255	0.0018	.	0.0012	0.0004	0.0015	0	0.0016	0.0018	0	0	0.001119	173	154602	rs144780406	0.0012	0.0012	0.0012	0.0011	0.0027	0.0011	0.0011	0.0015	0.0012	7.637e-05	0.0007	0.0020	0	0.0016	0.0027	0.0013	0.0015	0.0001	0.0011	0.0011	0.0012	0.0010	0.0017	0.0010	0.0009	0.0014	0.0013	0.0002	0.0087	0.0003	0.0019	0	0.0026	0	0.0017	0.0007	0	0.006	0.61437	D	0.035	0.52389	D	.	.	.	.	.	.	0.096226	0.02504	N	2.226620	1	0.08975	N	.	.	.	.	.	.	-2.04	0.46842	N	0.306	0.34552	-1.0569	0.12543	T	0.047	0.20235	T	9	0.008805841	0.00199	T	0.004169	0.10026	T	0.035	0.08770	.	.	0.082315109003	0.07666	0.23395377719231908	0.23310	0.199415716933	0.22337	0.28432738781	0.08102	T	.	.	.	-0.670173	0.00055	T	-0.741601	0.03823	T	0.0150458580020347	0.00324	T	0.562144	0.19728	T	0.088939875	0.20763	0.044682864	0.05844	0.088939875	0.20763	0.044682864	0.05844	-2.779	0.07991	T	.	.	0.087	0.13362	B	.;.	.;.	0.379934	0.07521	4.165	0.95786523930809275	0.27817	0.02533	0.07046	N	AEFGI	.	.	.	.	.	.	.	.	.	3.70217673108582E-5	0.03775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.23	-0.799	0.10351	0.089000	0.14843	1.305000	0.25500	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.4084:0.2274:0.1397:0.2245	0.365	0.00344	512	0.75040	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1746.98	34	chrX	36071879	.	A	T	1746.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.005e+00;DP=843;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.48;ReadPosRankSum=-3.082e+00;SOR=0.675	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1108	20	0	1	0
chrX	37010136	37010136	G	A	exonic	FAM47C	.	nonsynonymous SNV	FAM47C:NM_001013736:exon1:c.G1726A:p.D576N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.706	P	0.037	B	.	.	1.000	N	-0.205	N	2.56	T	-0.983	T	0.009	T	0.01	2.165	13.20	-1.72	-0.773	-1.469	0.829	0.075	0.000882354146119	.	0.0010596	0.0004	0.0033	0.0006	0	0	6.278e-05	0	9.902e-05	0.0004204	65	154602	rs782543670	0.0001	0.0005	0.0001	9.229e-05	0.0022	9.885e-05	9.279e-05	0.0018	0.0016	0.0022	0.0004	0	0.0001	0	0	4.07e-05	0.0003	9.275e-05	0.0058	0.0099	0.0073	0	0.0071	0.0054	0.0052	0.0054	0.0049	0.0057	0.0046	0.0071	0.0015	0.0028	0.0473	0.0125	0.0031	0.0061	0.0043	0.109	0.29288	T	0.468	0.12316	T	0.706	0.42003	P	0.037	0.23121	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.56	0.13673	T	-0.86	0.23372	N	0.018	0.00252	-0.9828	0.34351	T	0.009	0.03140	T	9	0.0051543415	0.00112	T	8.82E-4	0.00800	T	0.075	0.21907	.	.	0.236890367714	0.23314	0.06558799439012124	0.06497	0.315144770865	0.33798	0.431065708399	0.29354	T	0.003171	0.02576	T	-0.612402	0.00122	T	-1.11745	0.00019	T	0.0246720364947781	0.01230	T	0.420658	0.11177	T	0.039820112	0.05570	0.04634656	0.06438	0.039820112	0.05569	0.04634656	0.06438	-4.316	0.28400	T	.	.	0.082	0.08754	B	.	.	-0.163743	0.03281	0.562	0.99560147593431514	0.71707	0.00295	0.01577	N	AEFBI	.	.	.	.	.	.	.	.	.	1.61132445378356E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.68	-1.72	0.07671	0.409000	0.20803	-1.978000	0.04401	-1.837000	0.00584	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.1821:0.2196:0.3774:0.2209	0.829	0.01054	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1128.98	326	chrX	37010136	.	G	A	1128.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.39;DP=2408;ExcessHet=0.0000;FS=1.131;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.67;MQRankSum=4.62;QD=3.99;ReadPosRankSum=-5.906e+00;SOR=0.807	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,949	20	0	1	0
chrX	38160034	38160034	G	A	exonic	SRPX	.	nonsynonymous SNV	SRPX:NM_001170750:exon6:c.C878T:p.T293M	.	.	.	.	.	.	.	.	.	.	.	2821479	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.17	T	0.94	P	0.404	B	0.000	D	0.970	D	1.67	L	-0.15	T	-0.861	T	0.179	T	0.142	2.099	12.97	3.91	0.559	3.388	5.892	0.110	0.035262844596	.	0.000264901	0.0002	0.0001	0	0	0	0.0003	0	0.0003	0.0001617	25	154602	rs750284952	0.0001	0.0001	0.0001	0.0001	0.0005	8.884e-05	8.325e-05	9.543e-05	8.868e-05	7.58e-05	0	0	0	9.897e-05	0.0005	0.0001	8.688e-05	0.0001	0.0001	0.0001	0.0001	0.0001	0.0003	8.178e-05	6.62e-05	8.424e-05	5.74e-05	0.0002	0	9.342e-05	0	0.0003	0	0	0.0001	0	0	0.03	0.45393	D	0.108	0.37730	T	0.672	0.41203	P	0.122	0.32387	B	0.000410	0.44736	D	0.252992	0.970369	0.38793	D	2.075	0.57047	M	-0.15	0.65192	T	-1.92	0.47344	N	0.144	0.15187	-0.8613	0.51169	T	0.179	0.52551	T	10	0.11757299	0.22206	T	0.035263	0.56231	D	0.110	0.31079	.	.	0.945923092352	0.94536	0.38006763395698034	0.37921	0.0358619067927	0.03783	0.447488844395	0.31601	T	0.309798	0.68180	T	-0.403356	0.02201	T	-0.51961	0.20333	T	0.0525087080895901	0.05935	T	0.849315	0.63379	T	0.068085454	0.14802	0.1630054	0.37836	0.068085454	0.14802	0.1630054	0.37835	-7.414	0.59623	T	0.18955545218654712	0.24800	0.073	0.05188	B	.;.;.;.	.;.;.;.	3.129936	0.42292	21.5	0.99302167765994109	0.58686	0.80588	0.40186	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.964256295362953	0.28747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.68	3.91	0.44383	4.110000	0.57570	3.964000	0.40771	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.2162:0.1503:0.6335:0.0	5.892	0.18161	484	0.77165	.;.;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	820.98	36	chrX	38160034	.	G	A	820.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.09;DP=728;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.73;ReadPosRankSum=-1.845e+00;SOR=0.703	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1167	20	0	1	0
chrX	38285877	38285891	TCCTCTCCTTCCTCT	-	exonic	RPGR	.	nonframeshift deletion	RPGR:NM_001034853:exon15:c.3108_3122del:p.E1038_E1042del,	Cone-rod dystrophy, X-linked, 1, X-linked;Macular degeneration, X-linked atrophic, X-linked recessive;Retinitis pigmentosa 3;Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness	.	.	.	.	.	.	.	.	.	.	1195756	Primary_ciliary_dyskinesia|not_provided	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0136	.	0.0029	0.0263	0.0011	0	0	5.186e-05	0.0019	0.0001	0.0001921	5	26028	rs774012136	0.0008	0.0008	0.0009	0.0007	0.0280	0.0008	0.0008	0.0263	0.0256	0.0280	0.0013	5.171e-05	0	0	0.0012	4.883e-05	0.0019	0.0001	0.0056	0.0079	0.0069	0.0019	0.0200	0.0053	0.0051	0.0186	0.0181	0.0200	0	0.0013	0	0	0	0.0051	0.0001	0.0029	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1203.94	43	chrX	38285876	.	CTCCTCTCCTTCCTCT	C	1203.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.740e-01;DP=835;ExcessHet=0.0000;FS=9.299;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.12;ReadPosRankSum=-2.468e+00;SOR=0.042	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,934	20	0	1	0
chrX	38286942	38286942	A	T	exonic	RPGR	.	nonsynonymous SNV	RPGR:NM_001034853:exon15:c.T2057A:p.M686K,	Cone-rod dystrophy, X-linked, 1, X-linked;Macular degeneration, X-linked atrophic, X-linked recessive;Retinitis pigmentosa 3;Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness	YES	86	1431	3	2	0	7	0.00243987	.	.	1266742	X-linked_cone-rod_dystrophy_1|Retinitis_pigmentosa_3|Retinitis_pigmentosa,_X-linked,_and_sinorespiratory_infections,_with_or_without_deafness|Macular_degeneration,_X-linked_atrophic|Primary_ciliary_dyskinesia|not_provided	MONDO:MONDO:0010566,MedGen:C1844776,OMIM:304020,Orphanet:1872|MONDO:MONDO:0010227,MedGen:C1845667,OMIM:300029,Orphanet:791|MedGen:C2749137,OMIM:300455,Orphanet:247522|MONDO:MONDO:0010443,MedGen:C3151784,OMIM:300834,Orphanet:1872|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.93	T	0.009	B	0.003	B	1.000	U	1.000	N	0.55	N	1.32	T	-1.012	T	0.020	T	0.061	-0.045	3.787	-2.15	-0.230	0.222	3.881	0.014	.	0.0080	0.00847682	0.0048	0.0264	0.0011	0.0050	0	0	0.0016	0.0148	0.0041267	638	154602	rs151247357	0.0015	0.0015	0.0013	0.0019	0.0269	0.0015	0.0014	0.0253	0.0246	0.0269	0.0010	0	0.0025	0	0.0029	2.019e-05	0.0031	0.0125	0.0076	0.0080	0.0077	0.0074	0.0259	0.0072	0.0070	0.0243	0.0237	0.0259	0	0.0014	0	0.0054	0	0	6.052e-05	0.0059	0.0115	.	.	.	0.972	0.02471	T	.	.	.	.	.	.	1.000000	0.07966	U	0.379473	1	0.08975	N	.	.	.	1.32	0.35219	T	-0.07	0.08033	N	0.086	0.06322	-1.0119	0.26322	T	0.020	0.08313	T	10	0.002929479	0.00047	T	.	.	.	0.014	0.01968	.	.	0.134007934775	0.12933	0.0316817520545626	0.03117	1.18745578994	0.80184	0.290181100368	0.08949	T	.	.	.	-0.905874	0.00000	T	-1.05373	0.00063	T	0.00810657587251043	0.00096	T	0.263374	0.04265	T	.	.	.	.	.	.	.	.	-0.921	0.00916	T	.	.	0.101	0.17445	B	.;.	.;.	0.598533	0.09668	6.441	0.66763150781348579	0.08154	0.03142	0.08099	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.757361117031744	0.23455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.48	-2.15	0.06705	-1.626000	0.02137	-2.250000	0.03997	0.647000	0.52776	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4914:0.1766:0.0:0.332	3.881	0.08584	645	0.63593	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2421.98	46	chrX	38286942	.	A	T	2421.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.870e-01;DP=1207;ExcessHet=0.0000;FS=1.969;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.50;ReadPosRankSum=-1.428e+00;SOR=0.540	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	20	0	1	0
chrX	40064393	40064401	CAGTGGTCT	-	exonic	BCOR	.	nonframeshift deletion	BCOR:NM_001123384:exon6:c.3383_3391del:p.E1128_T1130del	Microphthalmia, syndromic 2, X-linked dominant	.	0	1521	0	1	0	2	0.00065703	.	.	513396	Oculofaciocardiodental_syndrome	MONDO:MONDO:0010261,MedGen:C1846265,OMIM:300166,Orphanet:2712	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1991.94	33	chrX	40064392	.	GCAGTGGTCT	G	1991.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.663e+00;DP=813;ExcessHet=0.0000;FS=10.321;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.75;ReadPosRankSum=1.60;SOR=0.204	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chrX	40692728	40692728	T	C	exonic	MED14	.	nonsynonymous SNV	MED14:NM_004229:exon14:c.A1825G:p.R609G,	.	.	435	1079	5	3	0	11	0.00507146	.	.	963970	Intellectual_disability|not_specified	Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.41	T	0.079	B	0.016	B	0.001	D	1.000	N	1.39	L	.	.	-1.032	T	0.098	T	0.371	1.371	10.51	4.21	0.658	1.882	10.239	0.073	0.00490273137036	0.0004	.	0.0005	0.0001	0.0002	0	0	0.0007	0	0.0003	0.0004204	65	154602	rs145739870	0.0004	0.0005	0.0004	0.0005	0.0144	0.0004	0.0004	0.0113	0.0103	0.0009	0.0003	0.0019	0	0	0.0144	0.0003	0.0010	0.0005	0.0006	0.0006	0.0006	0.0005	0.0015	0.0005	0.0004	0.0009	0.0008	0.0001	0	0.0015	0.0026	0	0	0.0092	0.0006	0.0007	0.0011	0.268	0.16144	T	0.007	0.69154	D	0.079	0.24468	B	0.016	0.17743	B	0.000666	0.42516	D	0.284434	1	0.08975	N	1.61	0.41143	L	.	.	.	-0.82	0.22508	N	0.097	0.07811	-1.0315	0.19970	T	0.098	0.36600	T	9	0.012524694	0.00269	T	0.004903	0.12318	T	0.073	0.21317	.	.	0.248133497653	0.24425	0.38022173183262475	0.37937	0.109795811323	0.12382	0.289530426264	0.08854	T	0.112041	0.42800	T	-0.433843	0.01406	T	-0.460716	0.26521	T	0.0125827739555517	0.00209	T	0.818018	0.47523	T	0.13626401	0.31595	0.13553761	0.32448	0.13626401	0.31595	0.13553761	0.32447	-1.745	0.02350	T	.	.	0.088	0.11510	B	.	.	2.213112	0.28233	17.73	0.97058114391650008	0.32184	0.17092	0.19685	N	AEFBI	.	.	.	.	.	.	.	.	.	0.802896841596843	0.24218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.42	4.21	0.48984	2.244000	0.42775	1.862000	0.29329	-0.236000	0.07595	0.117000	0.23121	0.999000	0.35428	0.746000	0.35646	0.0:0.0:0.1641:0.8359	10.239	0.42481	821	0.40814	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	4182.66	33	chrX	40692728	.	T	C	4182.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.55;DP=883;ExcessHet=0.0000;FS=0.603;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=20.40;ReadPosRankSum=0.712;SOR=0.786	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	19	1	1	0
chrX	44232582	44232582	C	G	exonic	EFHC2	.	nonsynonymous SNV	EFHC2:NM_025184:exon10:c.G1519C:p.E507Q,	.	.	431	1082	6	3	0	12	0.00551471	.	.	190908	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.06	T	0.258	B	0.166	B	0.000	D	0.000	P	1.405	L	-0.31	T	-0.983	T	0.038	T	0.218	2.132	13.09	5.85	2.472	5.249	19.145	0.197	.	0.0016	0.0217219	0.0194	0.0031	0.0831	0.1303	0.0138	0.0017	0.0205	0.0018	0.0089456	1383	154602	rs3747354	0.0050	0.0050	0.0051	0.0046	0.0888	0.0048	0.0048	0.0860	0.0849	0.0008	0.0346	0	0.0888	0.0068	0.0027	0.0011	0.0060	0.0016	0.0064	0.0067	0.0059	0.0076	0.0747	0.0060	0.0059	0.0674	0.0645	0.0014	0	0.0250	0	0.0747	0.0092	0	0.0014	0.0066	0.0023	.	.	.	0.01	0.65728	D	0.258	0.31443	B	0.166	0.35067	B	0.000117	0.50451	D	0.170638	0.0732845	0.36842	P	2.02	0.55341	M	.	.	.	.	.	.	0.112	0.09914	-0.9831	0.34281	T	0.038	0.16203	T	9	0.0062425435	0.00141	T	.	.	.	0.197	0.47942	.	.	.	.	0.8430765146492271	0.84268	0.189476331791	0.21270	0.40534684062	0.25812	T	0.066555	0.32976	T	-0.483765	0.00703	T	-0.410145	0.32208	T	0.00984096645528534	0.00130	T	0.741226	0.36032	T	0.28942853	0.51939	0.28726315	0.54738	0.28942853	0.51939	0.28726315	0.54737	-7.292	0.56138	T	.	.	0.263	0.49721	B	.	.	2.543558	0.32911	19.18	0.99421849844277277	0.63790	0.97979	0.78596	D	AEFI	.	.	.	.	.	.	.	.	.	0.999999999999095	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.85	5.85	0.93663	5.326000	0.65654	7.568000	0.60641	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.228000	0.22680	0.0:1.0:0.0:0.0	19.145	0.93448	900	0.24599	Domain of unknown function DUF1126|Uncharacterised domain DM10|Uncharacterised domain DM10	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1808.98	36	chrX	44232582	.	C	G	1808.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.12;DP=866;ExcessHet=0.0000;FS=1.160;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.99;ReadPosRankSum=-1.039e+00;SOR=0.732	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chrX	44232585	44232585	C	T	exonic	EFHC2	.	nonsynonymous SNV	EFHC2:NM_025184:exon10:c.G1516A:p.E506K,	.	.	429	1051	29	13	0	55	0.0254984	.	.	1308138	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.63	T	0.913	P	0.268	B	0.000	D	1.000	D	0.915	L	-0.26	T	-0.860	T	0.193	T	0.397	1.569	11.20	4.97	2.472	1.621	16.094	0.038	0.226834300826	0.0032	0.00238411	0.0067	0.0008	0.0063	0	0.0033	0.0090	0	0.0091	0.0034605	535	154602	rs192827775	0.0045	0.0045	0.0045	0.0047	0.0283	0.0044	0.0044	0.0241	0.0225	0.0003	0.0020	0.0111	0	0.0026	0.0283	0.0045	0.0057	0.0072	0.0033	0.0034	0.0033	0.0033	0.0048	0.0030	0.0029	0.0043	0.0041	0.0005	0	0.0021	0.0109	0	0.0041	0.0320	0.0048	0.0039	0.0038	.	.	.	0.521	0.10429	T	0.913	0.50474	P	0.268	0.39801	B	0.000002	0.62929	D	0.059791	0.988983	0.40865	D	1.35	0.33515	L	.	.	.	.	.	.	0.122	0.11340	-0.8600	0.51263	T	0.193	0.54652	T	10	0.0077182353	0.00175	T	0.226834	0.88062	D	0.160	0.41473	.	.	0.362933182269	0.35899	0.7264299174291527	0.72586	0.153508229755	0.17316	0.373277664185	0.21302	T	0.011418	0.10189	T	-0.390963	0.02652	T	-0.329942	0.41474	T	0.0149901700767413	0.00322	T	0.90421	0.66396	D	0.33576554	0.55940	0.31499657	0.57488	0.33576554	0.55940	0.31499657	0.57487	-6.213	0.48028	T	.	.	0.174	0.38172	B	.	.	1.705199	0.21718	15.32	0.99643287406419756	0.76819	0.81980	0.41281	D	AEFI	.	.	.	.	.	.	.	.	.	0.999897227663305	0.45129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.85	4.97	0.65419	1.678000	0.37202	1.868000	0.29368	0.599000	0.40250	0.957000	0.33433	0.998000	0.33993	0.251000	0.23288	0.0:0.8041:0.1959:0.0	16.094	0.80919	900	0.24599	Domain of unknown function DUF1126|Uncharacterised domain DM10|Uncharacterised domain DM10	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	4689.66	166	chrX	44232585	.	C	T	4689.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.627;DP=928;ExcessHet=0.0000;FS=0.955;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=17.18;ReadPosRankSum=0.560;SOR=0.721	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	19	1	1	0
chrX	44844457	44844457	G	T	exonic	DUSP21	.	stopgain	DUSP21:NM_022076:exon1:c.G325T:p.G109X,	.	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	3.561	18.15	3.82	2.163	9.492	12.742	.	.	0.0002	0.0010596	0.0003	0.0001	0.0001	0	0	0.0005	0	0.0004	0.0003363	52	154602	rs148315361	0.0004	0.0004	0.0004	0.0005	0.0006	0.0004	0.0004	0.0004	0.0004	0.0001	2.841e-05	0	0	4.936e-05	0	0.0005	0.0002	0.0006	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0004	0.0003	6.563e-05	0	0.0002	0	0	0.0002	0.0046	0.0005	0.0007	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.374	0.41557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315717	0.84166	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.928130	0.95924	35	0.99080552210333883	0.51954	0.97654	0.76186	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999999960446	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.82	3.82	0.43153	9.893000	0.98592	4.894000	0.45793	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.092000	0.17891	0.0:0.0:1.0:0.0	12.742	0.56631	654	0.62520	Dual specificity phosphatase, catalytic domain|Dual specificity protein phosphatase domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain|Dual specificity protein phosphatase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	999.98	38	chrX	44844457	.	G	T	999.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=784;ExcessHet=0.0000;FS=7.006;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=1.38;SOR=0.626	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1342	20	0	1	0
chrX	45069832	45069832	C	T	exonic	KDM6A	.	nonsynonymous SNV	KDM6A:NM_001291418:exon15:c.C1940T:p.T647M	Kabuki syndrome 2, X-linked dominant	.	1	1240	187	92	2	373	0.13013	.	.	380059	not_specified|Kabuki_syndrome_2|not_provided	MedGen:CN169374|MONDO:MONDO:0010465,MedGen:C3275495,OMIM:300867,Orphanet:2322|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.646	P	0.097	B	0.209	N	1.000	P	0	N	0.76	T	-1.067	T	0.055	T	0.202	0.353	5.916	-2.48	-0.616	-0.793	15.541	0.062	0.153986145614	.	.	0.0002	0	0.0006	0	0	0.0002	0	0.0002	0.0001423	22	154602	rs2230018	0.0003	0.0003	0.0002	0.0003	0.0012	0.0002	0.0002	0.0005	0.0003	0	0.0003	5.159e-05	9.944e-05	0	0.0012	0.0003	0.0003	0.0005	0.0002	0.0002	0.0002	0.0001	0.0008	0.0001	0.0001	0.0002	0.0002	3.259e-05	0	9.522e-05	0	0	0	0	0.0003	0.0007	0.0008	0.139	0.25768	T	0.09	0.40267	T	0.646	0.40549	P	0.097	0.30390	B	0.208580	0.16421	N	0.640382	0.999966	0.18878	P	0.345	0.11182	N	0.76	0.49919	T	0.81	0.01839	N	0.052	0.15187	-1.0668	0.10131	T	0.055	0.23110	T	9	0.03868887	0.02304	T	0.153986	0.83517	D	0.062	0.17934	.	.	0.193917141947	0.19028	0.24952797713721842	0.24866	0.11190476299	0.12625	0.237911581993	0.02605	T	0.015006	0.34128	T	-0.617003	0.00115	T	-0.779121	0.02480	T	0.0065993512139926	0.00074	T	0.863414	0.55914	D	0.040850677	0.05909	0.09863973	0.23522	0.053731814	0.10210	0.1197753	0.28907	-5.446	0.41359	T	0.1269424636613506	0.12910	0.068	0.03093	B	.;.;.;.;.	.;.;.;.;.	-1.081137	0.00663	0.018	0.8421640515683424	0.15163	0.07799	0.13795	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999952254868068	0.48110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.82	-2.48	0.06052	-0.985000	0.03861	-4.604000	0.02073	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.943000	0.48514	0.0:0.7711:0.0:0.2289	15.541	0.75790	611	0.66908	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0.2381	28040.68	33	chrX	45069832	.	C	A,T	28040.68	.	AC=9,1;AF=0.214,0.024;AN=42;BaseQRankSum=4.41;DP=1938;ExcessHet=0.0097;FS=0.544;InbreedingCoeff=0.4750;MLEAC=9,1;MLEAF=0.214,0.024;MQ=60.00;MQRankSum=0.00;QD=19.89;ReadPosRankSum=-1.040e-01;SOR=0.755	GT:AD:DP:GQ:PL	0/0:35,0,0:35:99:0,99,1216,99,1216,1216	14	3	3	0
chrX	46860080	46860080	C	G	exonic	RP2	.	nonsynonymous SNV	RP2:NM_006915:exon3:c.C861G:p.D287E,	Retinitis pigmentosa 2, X-linked	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.004	N	0.508	N	0.805	L	-1.05	T	-0.904	T	0.175	T	0.025	0.884	8.588	-0.524	-0.134	-0.136	4.248	0.168	0.230313912941	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1164991027	1.322e-05	0.0002	1.926e-05	0	1.486e-05	7.67e-06	6e-06	7.92e-06	6.26e-06	0	0	0	0	2.497e-05	0	1.486e-05	2.235e-05	0	1.798e-05	2.619e-05	2.576e-05	0	6.526e-05	2.99e-06	1.12e-06	1.081e-05	4.04e-06	6.526e-05	0	0	0	0	0	0	0	0	0	0.761	0.03471	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.004404	0.33773	N	0.334919	0.507853	0.31672	N	0.57	0.15267	N	-1.05	0.76690	T	0.03	0.06612	N	0.03	0.00717	-0.9042	0.47538	T	0.175	0.51911	T	10	0.058759242	0.06959	T	0.230314	0.88224	D	0.168	0.42943	0.195	0.10705	0.128874641272	0.12493	0.2934621766006824	0.29259	0.277198454346	0.30193	0.347113490105	0.17496	T	0.056646	0.30345	T	-0.384829	0.02904	T	-0.790557	0.02150	T	0.0884944275021553	0.11037	T	0.659134	0.26825	T	0.07924659	0.18093	0.045651473	0.06190	0.07924659	0.18093	0.045651473	0.06189	-3.296	0.13686	T	0.16473243430326467	0.20376	0.083	0.09094	B	.	.	1.155586	0.15440	11.85	0.95785485670045956	0.27815	0.83476	0.42591	D	AEFBI	.	.	.	.	.	.	.	.	.	0.752834093680785	0.23387	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.65	-0.524	0.11325	-0.132000	0.10446	0.440000	0.18415	0.599000	0.40250	0.838000	0.30254	0.994000	0.32194	0.991000	0.66497	0.3325:0.2238:0.0:0.4437	4.248	0.10130	131	0.94738	Tubulin binding cofactor C-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	51.38	40	chrX	46860080	.	C	G	51.38	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.552e+00;DP=840;ExcessHet=0.3300;FS=305.774;InbreedingCoeff=-0.0921;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.23;ReadPosRankSum=1.29;SOR=8.713	GT:AD:DP:GQ:PL	0/0:21,0:21:27:0,27,479	18	0	3	0
chrX	47081257	47081257	A	T	exonic	RGN	.	nonsynonymous SNV	RGN:NM_004683:exon2:c.A113T:p.K38M	.	.	427	1093	1	1	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.587	P	0.398	B	0.000	D	1.000	N	2.72	M	1.46	T	-0.998	T	0.090	T	0.426	1.654	11.49	-1.29	-0.647	1.737	2.651	0.210	0.0494922460188	.	0.0013245	0.0008	0	0.0001	0	0	0	0	0.0065	0.0007762	120	154602	rs782752642	0.0003	0.0003	0.0002	0.0005	0.0055	0.0003	0.0002	0.0050	0.0048	0	0	0	0	0	0	5.944e-06	0.0001	0.0055	0.0001	0.0001	8.999e-05	0.0001	0.0046	6.137e-05	4.827e-05	0.0026	0.0021	0	0	0	0	0	0	0	0	0	0.0046	0.059	0.45756	T	0.04	0.50809	D	0.411	0.38961	B	0.313	0.44426	B	0.000002	0.62929	D	0.102708	1	0.08975	N	2.72	0.79541	M	1.46	0.32238	T	-2.87	0.60348	D	0.267	0.30233	-0.9982	0.30423	T	0.090	0.34463	T	10	0.009500563	0.00214	T	0.049492	0.63837	D	0.210	0.50028	0.608	0.74063	0.319970858106	0.31615	0.748294863627236	0.74775	0.0463735368092	0.05039	0.383498966694	0.22752	T	0.774339	0.93985	D	-0.526312	0.00404	T	-0.525759	0.19713	T	0.14952144733324	0.17065	T	0.848715	0.55187	T	0.4389861	0.63337	0.21177796	0.45620	0.4389861	0.63337	0.21177796	0.45619	-7.382	0.56778	T	.	.	0.105	0.26074	B	.;.;.;.	.;.;.;.	2.380018	0.30549	18.47	0.98897635564020847	0.48127	0.30116	0.23999	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999925054259433	0.46280	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.68	-1.29	0.08805	2.234000	0.42681	0.575000	0.19646	0.754000	0.88378	0.989000	0.36753	0.163000	0.23278	0.730000	0.35099	0.4736:0.233:0.0647:0.2286	2.651	0.04694	2	0.99499	.;SMP-30/Gluconolactonase/LRE-like region;SMP-30/Gluconolactonase/LRE-like region;SMP-30/Gluconolactonase/LRE-like region	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1211.98	38	chrX	47081257	.	A	T	1211.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.330e-01;DP=782;ExcessHet=0.0000;FS=1.930;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.38;ReadPosRankSum=0.966;SOR=0.945	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1045	20	0	1	0
chrX	47182249	47182249	G	A	exonic	RBM10	.	nonsynonymous SNV	RBM10:NM_001204466:exon16:c.G1642A:p.G548R	TARP syndrome, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	1.0	D	1.0	D	0.003	N	1.000	N	1.895	L	2.87	T	-1.037	T	0.112	T	0.262	2.549	14.48	4.85	2.137	2.769	10.036	0.061	0.106017469113	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1191525682	9.109e-07	9.105e-07	0	2.753e-06	3.788e-05	0	0	.	.	3.788e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.024	0.58613	D	0.998	0.90584	D	0.749	0.97372	P	0.002747	0.36001	N	0.225856	1	0.08975	N	1.845	0.48678	L	2.87	0.14783	T	-2.5	0.54382	D	0.099	0.08506	-1.0370	0.18233	T	0.112	0.40145	T	10	0.1877704	0.34303	T	0.106017	0.78141	D	0.061	0.17616	0.168	0.07302	0.614654210094	0.61153	0.5231156590901097	0.52235	1.92661065123	0.93051	0.829219818115	0.86442	D	0.514069	0.82878	D	-0.303694	0.08315	T	-0.674012	0.07353	T	0.905281960964203	0.55898	D	0.922208	0.71716	D	0.18073267	0.39209	0.30703306	0.56726	0.18073267	0.39209	0.30703306	0.56725	-10.493	0.78661	D	0.13104390096324	0.13843	0.432	0.64812	A	.;.;.;.	.;.;.;.	3.947966	0.57820	23.9	0.99798163136321394	0.88283	0.41055	0.26573	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.975073434751288	0.29600	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.85	4.85	0.62375	3.207000	0.50808	9.873000	0.82142	0.676000	0.76740	0.691000	0.28541	1.000000	0.68203	0.719000	0.34739	0.0:0.0:0.7989:0.2011	10.036	0.41301	388	0.83355	RBM10, OCRE domain;RBM10, OCRE domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.04762	3467.08	49	chrX	47182249	.	G	A	3467.08	.	AC=2;AF=0.048;AN=42;DP=911;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.10;SOR=0.892	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1251	20	1	0	0
chrX	47447773	47447773	G	A	exonic	ZNF41	.	nonsynonymous SNV	ZNF41:NM_001324139:exon4:c.C1739T:p.A580V	.	.	0	1506	10	6	0	22	0.00725115	.	.	348796	History_of_neurodevelopmental_disorder	MedGen:C2711754	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.997	D	0.058	N	0.998	N	0.05	N	2.42	T	-1.089	T	0.050	T	0.311	2.917	15.72	2.79	0.901	-1.294	10.223	0.066	.	0.0015	0.00529801	0.0028	0.0005	0.0011	0	0	0.0026	0	0.0107	0.0028848	446	154602	rs144970008	0.0034	0.0034	0.0033	0.0035	0.0098	0.0033	0.0033	0.0092	0.0089	0.0003	0.0015	0.0045	0	0.0004	0.0041	0.0034	0.0029	0.0098	0.0020	0.0020	0.0020	0.0021	0.0101	0.0018	0.0017	0.0071	0.0061	0.0003	0	0.0012	0.0045	0.0003	0.0010	0.0046	0.0028	0.0040	0.0101	0.049	0.39820	D	0.241	0.24334	T	0.078	0.24389	B	0.04	0.23831	B	0.058270	0.22415	N	0.227466	0.998947	0.22374	N	.	.	.	2.42	0.15376	T	-2.15	0.48687	N	0.058	0.02964	-1.0886	0.05770	T	0.050	0.21143	T	10	0.005091071	0.00110	T	.	.	.	0.066	0.19193	.	.	0.645989072673	0.64305	0.10806213369564742	0.10735	0.545405473843	0.51576	0.407493084669	0.26110	T	.	.	.	-0.680955	0.00047	T	-0.741526	0.03827	T	0.0113411606192594	0.00168	T	0.243176	0.03527	T	.	.	.	.	.	.	.	.	-5.774	0.44347	T	.	.	0.110	0.21125	B	.;.	.;.	2.437819	0.31368	18.72	0.99875122017002838	0.95244	0.11559	0.16714	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.609499426101246	0.21792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.69	2.79	0.31792	-0.373000	0.07550	0.785000	0.21516	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.957000	0.51019	0.0:0.1997:0.8003:0.0	10.223	0.42386	382	0.83637	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1393.98	33	chrX	47447773	.	G	A	1393.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.300e-01;DP=776;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.40;ReadPosRankSum=1.28;SOR=0.623	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1215	20	0	1	0
chrX	47449292	47449292	C	T	exonic	ZNF41	.	nonsynonymous SNV	ZNF41:NM_001324139:exon4:c.G220A:p.V74I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.98	T	0.458	P	0.194	B	0.881	N	1.000	N	0.695	N	6.02	T	-0.993	T	0.009	T	0.11	-2.205	0.005	-1.18	-0.425	0.106	0.571	0.019	0.00146370319484	.	.	1.141e-05	0	0	0	0	2.087e-05	0	0	6.5e-06	1	154602	rs749941036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.918	0.10517	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.06944	B	0.881272	0.07237	N	1.089820	1	0.08975	N	.	.	.	3.4	0.05642	T	-0.04	0.08971	N	0.068	0.04307	-0.9930	0.31827	T	0.009	0.03227	T	10	0.039906144	0.02516	T	0.001464	0.02215	T	0.019	0.03383	.	.	0.592080101431	0.58884	0.05226674945445359	0.05168	0.198165947777	0.22192	0.313779711723	0.12478	T	.	.	.	-0.51725	0.00456	T	-0.98077	0.00179	T	0.0431728398460497	0.04269	T	0.549145	0.18877	T	.	.	.	.	.	.	.	.	-2.889	0.09034	T	.	.	0.073	0.10159	B	.;.;.	.;.;.	0.398573	0.07698	4.374	0.14994139112519969	0.00351	0.13181	0.17710	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.0465628707433357	0.14696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.1	-1.18	0.09122	-0.927000	0.04092	-4.018000	0.02390	-0.214000	0.08267	0.000000	0.06391	0.000000	0.08366	0.966000	0.53164	0.1783:0.2547:0.174:0.393	0.571	0.00650	399	0.82780	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2836.08	33	chrX	47449292	.	C	T	2836.08	.	AC=2;AF=0.048;AN=42;DP=790;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.51;SOR=0.990	GT:AD:DP:GQ:PL	1/1:0,90:90:99:2864,270,0	20	1	0	0
chrX	47586641	47586641	C	T	exonic	TIMP1	.	nonsynonymous SNV	TIMP1:NM_003254:exon6:c.C574T:p.R192W,	.	.	424	1097	1	0	0	1	0.000455581	.	.	743346	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.998	D	0.677	P	0.973	N	1.000	N	2.64	M	-3.34	D	0.116	D	0.786	D	0.473	3.448	17.68	0.819	0.381	0.088	11.178	0.432	0.429764460799	.	0.0010596	0.0002	0	0	0.0027	0	0	0	0	0.0001746	27	154602	rs192373432	0.0003	0.0003	0.0003	0.0003	0.0086	0.0002	0.0002	0.0077	0.0074	3.787e-05	0	0	0.0086	0	0.0002	2.731e-05	0.0001	1.847e-05	0.0001	0.0001	0.0001	8.547e-05	0.0033	7.475e-05	5.907e-05	0.0019	0.0015	3.211e-05	0	0	0	0.0033	0	0	1.877e-05	0	0	0.0	0.91255	D	0.003	0.79402	D	0.998	0.73220	D	0.677	0.53365	P	0.973330	0.08143	N	0.985479	1	0.08975	N	2.935	0.84639	M	-3.34	0.93975	D	-5.57	0.87760	D	0.325	0.37301	0.116	0.84465	D	0.786	0.92729	D	10	0.0143224895	0.00301	T	0.429764	0.93958	D	0.432	0.73807	.	.	0.894570396577	0.89352	0.7054990191856124	0.70491	0.870280335466	0.69372	0.24557171762	0.03316	T	0.720756	0.92106	D	-0.176886	0.24201	T	-0.0330278	0.68167	D	0.329290240478476	0.26196	T	0.879912	0.59649	D	0.69049233	0.77538	0.6634494	0.80272	0.69049233	0.77540	0.6634494	0.80273	-7.177	0.55316	T	.	.	0.166	0.36594	B	.;.	.;.	2.836109	0.37408	20.5	0.99864496722824669	0.94276	0.08066	0.14039	N	AEFBHCI	.	.	.	.	.	.	.	.	.	0.999414110790778	0.39577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.23	0.819	0.17926	0.110000	0.15273	0.397000	0.17956	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.624:0.376:0.0:0.0	11.178	0.47839	541	0.72942	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2491.08	35	chrX	47586641	.	C	T	2491.08	.	AC=2;AF=0.048;AN=42;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.94;SOR=0.855	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1149	20	1	0	0
chrX	48060064	48060064	A	T	exonic	ZNF630	.	nonsynonymous SNV	ZNF630:NM_001037735:exon5:c.T378A:p.D126E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.213	B	0.029	B	.	.	1.000	N	-0.67	N	5.7	T	-0.957	T	0.006	T	0.101	0.158	4.852	-1.36	-0.415	-0.010	3.342	0.014	0.000781140127824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.91255	T	1.0	0.01155	T	0.213	0.30041	B	0.029	0.21540	B	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	3.71	0.06681	T	1.2	0.44852	N	0.064	0.03613	-0.9573	0.39681	T	0.006	0.02018	T	9	0.05631414	0.06294	T	7.81E-4	0.00588	T	0.014	0.01968	0.319	0.29741	0.0666544352282	0.05500	0.014332727416997638	0.01390	0.0261545243825	0.02673	0.346656858921	0.17428	T	0.002046	0.01452	T	-0.4833	0.00708	T	-0.932004	0.00324	T	0.0742346480358183	0.09233	T	0.105489	0.08484	T	0.045468997	0.07448	0.065172486	0.13171	0.045468997	0.07448	0.065172486	0.13171	-1.513	0.01791	T	.	.	0.174	0.38172	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.359105	0.02369	0.260	0.81599507816448702	0.13766	0.02021	0.06069	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.00201656992604401	0.09087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.8	-1.36	0.08610	-1.034000	0.03678	-9.407000	0.00825	0.684000	0.82519	0.000000	0.06391	0.000000	0.08366	0.358000	0.25841	0.3047:0.4633:0.0:0.232	3.342	0.06704	556	0.71678	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2318.98	62	chrX	48060064	.	A	T	2318.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.723;DP=1010;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.83;ReadPosRankSum=0.223;SOR=0.699	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1216	20	0	1	0
chrX	48347592	48347592	C	G	exonic	SSX3	.	nonsynonymous SNV	SSX3:NM_021014:exon7:c.G479C:p.G160A,	.	.	542	971	6	3	0	12	0.00614125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.012	B	0.02	B	0.016	N	1.000	N	0.205	N	3.14	T	-1.077	T	0.026	T	0.197	-0.172	3.162	-1.53	-0.399	-2.175	1.495	0.017	.	0.0048	0.0010596	0.0045	0.0005	0.0014	0	0.0022	0.0072	0.0111	0.0020	0.0041914	648	154602	rs145941341	0.0049	0.0049	0.0048	0.0051	0.0194	0.0048	0.0048	0.0153	0.0139	0.0012	0.0017	0.0218	3.311e-05	0.0021	0.0194	0.0051	0.0058	0.0025	0.0036	0.0036	0.0037	0.0032	0.0055	0.0033	0.0032	0.0050	0.0048	0.0005	0	0.0015	0.0212	0	0.0018	0.0137	0.0055	0.0039	0.0012	0.165	0.23271	T	0.208	0.26883	T	0.012	0.16265	B	0.02	0.19048	B	0.016211	0.01435	N	2.755460	1	0.08975	N	0.41	0.12415	N	3.14	0.07920	T	-1.75	0.41428	N	0.053	0.02462	-1.0765	0.08043	T	0.026	0.11220	T	10	0.005180359	0.00113	T	.	.	.	0.017	0.02790	.	.	0.148003135375	0.14442	0.025709915417480064	0.02521	0.0223888616739	0.02249	0.238552987576	0.02661	T	0.029322	0.21038	T	-0.816134	0.00006	T	-0.942346	0.00287	T	0.00119764584612461	0.00012	T	0.652235	0.26282	T	0.055787336	0.10889	0.06849936	0.14314	0.055787336	0.10889	0.06849936	0.14313	-3.381	0.14802	T	.	.	0.108	0.20469	B	.	.	-1.276733	0.00458	0.010	0.58699313649850271	0.06053	0.00486	0.02309	N	AEFI	.	.	.	.	.	.	.	.	.	1.90434309064945E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.86	-1.53	0.08156	-1.272000	0.02933	-3.818000	0.02517	-0.737000	0.03687	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3104:0.2699:0.0:0.4197	1.495	0.02315	96	0.96030	SSXRD motif	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	5448.88	38	chrX	48347592	.	C	G	5448.88	.	AC=4;AF=0.095;AN=42;DP=900;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=4;MLEAF=0.095;MQ=58.73;QD=30.96;SOR=1.090	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	19	2	0	0
chrX	48482730	48482730	G	A	exonic	FTSJ1	.	nonsynonymous SNV	FTSJ1:NM_001282157:exon7:c.G482A:p.S161N	Mental retardation, X-linked 9/44, X-linked recessive	.	.	.	.	.	.	.	.	.	.	581018	FTSJ1-related_disorder|Inborn_genetic_diseases|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.002	B	0.827	N	1.000	N	0.205	N	0.97	T	-1.010	T	0.046	T	0.011	0.459	6.493	-1.84	-0.401	0.332	5.252	0.022	0.00207456555213	0.0004	.	0.0003	0	0.0001	0	0	0.0005	0	0	0.0002458	38	154602	rs142932029	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0003	0.0004	0.0004	3.79e-05	0.0001	0.0003	0	2.477e-05	0	0.0005	0.0002	0	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0004	0.0003	9.867e-05	0	0	0.0011	0	0	0	0.0005	0	0	0.25	0.17126	T	0.276	0.21947	T	0.0	0.02946	B	0.001	0.06944	B	0.826824	0.09137	N	0.910974	1	0.08975	N	1.445	0.36358	L	0.97	0.42502	T	0.21	0.04776	N	0.081	0.08227	-1.0104	0.26791	T	0.046	0.19760	T	10	0.018801898	0.00413	T	0.002075	0.03801	T	0.022	0.04323	.	.	0.138757226776	0.13463	0.20758847070266126	0.20674	0.619389203254	0.56290	0.374726116657	0.21507	T	0.007163	0.42866	T	-0.783888	0.00010	T	-1.0074	0.00125	T	0.506317734718323	0.32861	D	0.664534	0.27348	T	0.056144916	0.11007	0.08277911	0.18919	0.054299083	0.10398	0.07875405	0.17669	-4.743	0.34133	T	.	.	0.082	0.09675	B	.;.;.	.;.;.	0.433484	0.08038	4.759	0.78814124787974005	0.12464	0.08320	0.14265	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999951584164984	0.48110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.46	-1.84	0.07387	0.363000	0.20037	-0.089000	0.12081	-0.137000	0.12594	0.488000	0.26863	0.000000	0.08366	0.628000	0.32104	0.5809:0.1793:0.2398:0.0	5.252	0.14843	41	0.97903	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1805.98	33	chrX	48482730	.	G	A	1805.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.097e+00;DP=844;ExcessHet=0.0000;FS=14.927;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=-9.440e-01;SOR=1.051	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1000	20	0	1	0
chrX	48685764	48685764	G	A	exonic	WAS	.	nonsynonymous SNV	WAS:NM_000377:exon4:c.G391A:p.E131K,	Neutropenia, severe congenital, X-linked, X-linked recessive;Thrombocytopenia, X-linked, X-linked recessive;Thrombocytopenia, X-linked, intermittent, X-linked recessive;Wiskott-Aldrich syndrome, X-linked recessive	YES	1	1501	18	2	0	22	0.00727513	.	.	139152	X-linked_severe_congenital_neutropenia|Wiskott-Aldrich_syndrome|Thrombocytopenia_1|not_specified|not_provided|WAS-related_disorder	MONDO:MONDO:0010294,MedGen:C1845987,OMIM:300299,Orphanet:86788|MONDO:MONDO:0010518,MedGen:C0043194,OMIM:301000,Orphanet:906|MONDO:MONDO:0010743,MedGen:C1839163,OMIM:313900,Orphanet:268322,Orphanet:852|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.99	D	0.034	N	0.997	D	2.49	M	-6.2	D	1.088	D	0.981	D	0.922	4.118	21.2	4.29	0.962	3.183	8.661	0.845	.	0.0023	0.000794702	0.0052	0.0007	0	0	0.0246	0.0085	0.0055	0.0020	0.0022639	350	154602	rs146220228	0.0027	0.0027	0.0028	0.0026	0.0041	0.0026	0.0026	0.0028	0.0027	0.0002	0.0004	5.285e-05	0	0.0058	0.0041	0.0029	0.0024	0.0027	0.0022	0.0022	0.0021	0.0022	0.0034	0.0019	0.0019	0.0030	0.0028	0.0003	0	0.0009	0	0	0.0062	0	0.0034	0.0026	0.0015	0.005	0.63226	D	0.028	0.59159	D	0.998	0.73220	D	0.99	0.78936	D	0.033676	0.24868	N	0.421083	0.997118	0.43640	D	2.865	0.83145	M	-6.2	0.99568	D	-3.42	0.67241	D	0.065	0.03726	1.088	0.99146	D	0.981	0.99424	D	10	0.0077780485	0.00177	T	.	.	.	0.845	0.95175	.	.	0.999999773962	0.99999	0.9121155165048189	0.91185	1.55964591296	0.88024	0.624475359917	0.56361	T	0.789796	0.99102	D	0.294014	0.82483	D	0.648399	0.97988	D	0.032661687979623	0.02415	T	0.965303	0.88371	D	0.5585685	0.70430	0.67630875	0.80991	0.53327155	0.69017	0.69772846	0.82198	-7.45	0.57258	T	0.7234494835415142	0.80470	0.105	0.19114	B	.;.	.;.	3.584327	0.50547	23.0	0.99911008197178008	0.98022	0.92471	0.55789	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999998085348141	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.16	4.29	0.50359	1.610000	0.36480	6.631000	0.56152	0.616000	0.49467	0.998000	0.41325	1.000000	0.68203	0.976000	0.56436	0.1089:0.0:0.8911:0.0	8.661	0.33255	124	0.95048	WH1/EVH1 domain|WH1/EVH1 domain|WH1/EVH1 domain|WASP family, EVH1 domain;WH1/EVH1 domain|WH1/EVH1 domain|WH1/EVH1 domain|WASP family, EVH1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2225.08	34	chrX	48685764	.	G	A	2225.08	.	AC=2;AF=0.048;AN=42;DP=764;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.34;SOR=0.779	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,974	20	1	0	0
chrX	48688723	48688723	T	C	exonic	WAS	.	nonsynonymous SNV	WAS:NM_000377:exon10:c.T995C:p.V332A,	Neutropenia, severe congenital, X-linked, X-linked recessive;Thrombocytopenia, X-linked, X-linked recessive;Thrombocytopenia, X-linked, intermittent, X-linked recessive;Wiskott-Aldrich syndrome, X-linked recessive	YES	18	1471	21	12	0	45	0.0150653	.	.	139149	Wiskott-Aldrich_syndrome|Thrombocytopenia_1|X-linked_severe_congenital_neutropenia|not_provided|not_specified	MONDO:MONDO:0010518,MedGen:C0043194,OMIM:301000,Orphanet:906|MONDO:MONDO:0010743,MedGen:C1839163,OMIM:313900,Orphanet:268322,Orphanet:852|MONDO:MONDO:0010294,MedGen:C1845987,OMIM:300299,Orphanet:86788|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.82	T	0.0	B	0.0	B	0.934	N	1.000	N	0.55	N	-6.39	D	0.867	D	0.889	D	0.082	0.845	8.413	1.89	0.064	0.038	5.057	0.258	0.90982718101	0.0031	0.00317881	0.0051	0.0007	0.0035	0	0.0093	0.0070	0.0100	0.0014	0.0002305	6	26028	rs2737799	0.0055	0.0055	0.0056	0.0055	0.0155	0.0054	0.0054	0.0121	0.0109	0.0013	0.0060	0.0055	0	0.0079	0.0155	0.0059	0.0062	0.0018	0.0049	0.0050	0.0052	0.0042	0.0079	0.0046	0.0044	0.0065	0.0060	0.0011	0	0.0079	0.0054	0	0.0071	0.0093	0.0067	0.0067	0.0020	0.486	0.08091	T	0.525	0.10281	T	0.0	0.02946	B	0.0	0.01387	B	0.933838	0.08401	N	0.952422	1	0.08975	N	1.385	0.34509	L	-6.39	0.99678	D	0.4	0.03463	N	0.027	0.00571	0.867	0.95243	D	0.889	0.96318	D	10	0.009927154	0.00223	T	0.909827	0.99327	D	0.258	0.56959	.	.	0.781784224007	0.77977	0.11400849391897283	0.11328	0.703904773147	0.61288	0.598560571671	0.52700	T	0.114995	0.43324	T	-0.413763	0.01877	T	-0.362973	0.37708	T	0.00133126121913758	0.00013	T	0.421058	0.11199	T	0.061471365	0.12732	0.062531896	0.12250	0.0548544	0.10582	0.07176855	0.15407	-2.654	0.06925	T	0.08786395398335804	0.05207	0.069	0.03231	B	.	.	1.224534	0.16187	12.38	0.92801244441008002	0.22324	0.03845	0.09197	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.998875246217969	0.37868	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.39	1.89	0.24700	-0.012000	0.12637	0.058000	0.14093	0.659000	0.54702	0.001000	0.13787	0.008000	0.19753	0.999000	0.91618	0.0:0.1037:0.1817:0.7146	5.057	0.13874	142	0.94345	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	887.98	35	chrX	48688723	.	T	C	887.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.563e+00;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=-3.340e-01;SOR=0.735	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1041	20	0	1	0
chrX	48771080	48771080	A	G	exonic	GLOD5	.	nonsynonymous SNV	GLOD5:NM_001080489:exon3:c.A355G:p.K119E,	.	.	435	1086	1	0	0	1	0.000460193	0	0.006	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.001	B	0.002	B	0.000	D	0.993	D	0.98	L	.	.	-1.065	T	0.070	T	0.399	-0.094	3.539	0.811	-0.131	1.150	5.804	0.139	0.00426108428338	0.0048	0.00238411	0.0049	0.0011	0.0010	0	0.0026	0.0078	0.0019	0.0005	0.0044437	687	154602	rs182017964	0.0061	0.0059	0.0062	0.0058	0.0073	0.0059	0.0059	0.0071	0.0071	0.0009	0.0018	5.664e-05	0	0.0032	0.0003	0.0073	0.0040	0.0007	0.0043	0.0043	0.0047	0.0035	0.0074	0.0040	0.0039	0.0068	0.0065	0.0012	0	0.0029	0	0	0.0031	0	0.0074	0.0033	0.0004	0.684	0.04379	T	0.541	0.09725	T	.	.	.	.	.	.	0.000007	0.62929	D	0.142660	0.993454	0.41945	D	0.78	0.19475	N	.	.	.	-0.9	0.24244	N	0.073	0.04668	-1.0649	0.10572	T	0.070	0.28412	T	9	0.0077488422	0.00176	T	0.004261	0.10310	T	0.139	0.37390	.	.	0.45553875121	0.45177	0.6215110912049278	0.62084	0.0108971055782	0.01015	0.499345809221	0.38736	T	0.051994	0.29036	T	-0.449507	0.01137	T	-0.412912	0.31889	T	0.00544690852307509	0.00059	T	0.844016	0.52137	T	0.42303738	0.62293	0.16114582	0.37497	0.42303738	0.62294	0.16114582	0.37496	-7.783	0.59581	D	.	.	0.093	0.14155	B	.	.	1.930767	0.24519	16.43	0.9273021818950179	0.22230	0.69911	0.34376	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.9996284489638	0.41093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	0.811	0.17881	1.114000	0.30811	1.090000	0.23972	0.724000	0.85401	0.993000	0.37899	0.547000	0.25447	0.992000	0.67800	0.5945:0.3153:0.0902:0.0	5.804	0.17695	7	0.99271	Glyoxalase/fosfomycin resistance/dioxygenase domain|Vicinal oxygen chelate (VOC) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2114.08	34	chrX	48771080	.	A	G	2114.08	.	AC=2;AF=0.048;AN=42;DP=756;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.57;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1028	20	1	0	0
chrX	48815402	48815402	G	A	exonic	HDAC6	.	nonsynonymous SNV	HDAC6:NM_001321226:exon15:c.G1168A:p.A390T	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.757	P	0.196	B	0.011	N	0.997	N	0.915	L	-0.52	T	-0.901	T	0.178	T	0.108	1.595	11.29	0.958	-0.086	0.410	10.737	0.182	0.0422679650097	9.5e-05	.	2.722e-05	0	0	0	0	5.129e-05	0	0	1.94e-05	3	154602	rs370312010	3.763e-05	3.733e-05	3.82e-05	3.645e-05	0.0002	2.799e-05	2.519e-05	2.765e-05	2.366e-05	0	0	0	6.684e-05	0	0.0002	3.822e-05	6.556e-05	5.68e-05	8.991e-06	8.714e-06	1.286e-05	0	1.889e-05	0	0	.	.	0	0	0	0	0	0	0	1.889e-05	0	0	0.003	0.68238	D	0.012	0.63918	D	0.757	0.43436	P	0.196	0.36635	B	0.011444	0.29527	N	0.320352	1	0.08975	N	1.55	0.39271	L	-0.52	0.70717	T	-0.81	0.22294	N	0.206	0.23758	-0.9013	0.47857	T	0.178	0.52427	T	10	0.1911881	0.34794	T	0.042268	0.60372	D	0.182	0.45420	.	.	0.709987772455	0.70745	0.6667200340155568	0.66610	1.56731238709	0.88135	0.344612181187	0.17125	T	0.177782	0.52820	T	-0.404859	0.02151	T	-0.623693	0.10898	T	0.144130945823733	0.16626	T	0.767723	0.39623	T	0.18033743	0.39150	0.20921007	0.45255	0.18033743	0.39150	0.20921007	0.45254	-7.948	0.60715	D	.	.	0.205	0.43102	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.178375	0.15685	12.03	0.98042794047781312	0.37805	0.11151	0.16442	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.724947278756943	0.22976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.77	0.958	0.18741	0.484000	0.22017	1.939000	0.29818	-0.265000	0.06832	0.400000	0.26170	0.990000	0.31317	0.611000	0.31665	0.0:0.0:0.5104:0.4896	10.737	0.45329	6	0.99319	Histone deacetylase domain;Histone deacetylase domain;Histone deacetylase domain;.;Histone deacetylase domain;Histone deacetylase domain;Histone deacetylase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	1403.08	34	chrX	48815402	.	G	A	1403.08	.	AC=2;AF=0.048;AN=42;DP=767;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=34.22;SOR=1.075	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1204	20	1	0	0
chrX	49030447	49030447	C	G	exonic	TFE3	.	nonsynonymous SNV	TFE3:NM_001282142:exon10:c.G1124C:p.G375A	Renal cell carcinoma, papillary, 1	.	9	1500	4	7	2	20	0.00596421	.	.	743371	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.87	T	0.0	B	0.001	B	0.013	N	1.000	N	0.55	N	2.64	T	-0.980	T	0.019	T	0.07	-1.656	0.012	-7.86	-3.064	.	11.478	0.039	0.00321243265175	0.0012	0.000264901	0.0010	0.0008	0.0017	0.0009	0	0.0010	0	0.0010	0.0008473	131	154602	rs149649619	0.0010	0.0010	0.0010	0.0010	0.0012	0.0010	0.0009	0.0011	0.0010	0.0007	0.0012	0.0003	0.0004	0.0001	0.0007	0.0011	0.0006	0.0010	0.0006	0.0007	0.0007	0.0005	0.0011	0.0005	0.0005	0.0006	0.0005	0.0005	0	0.0006	0	0.0011	0.0003	0	0.0008	0.0007	0.0004	0.333	0.13003	T	0.835	0.03663	T	0.0	0.02946	B	0.001	0.04355	B	0.012587	0.01340	N	3.423240	1	0.08975	N	-0.205	0.04094	N	2.64	0.12780	T	-0.22	0.10480	N	0.058	0.02964	-0.9800	0.35002	T	0.019	0.08173	T	10	0.009028733	0.00204	T	0.003212	0.07057	T	0.039	0.10176	.	.	0.082315109003	0.07666	0.3482871711273847	0.34742	0.0352480869995	0.03718	0.518507540226	0.41416	T	0.310375	0.68234	T	-0.915975	0.00000	T	-1.12389	0.00016	T	0.0070648804322078	0.00080	T	0.506749	0.16047	T	0.04144507	0.06106	0.0698852	0.14781	0.04144507	0.06106	0.0698852	0.14780	-3.827	0.21208	T	.	.	0.062	0.01215	B	.	.	-1.086482	0.00657	0.018	0.32482497332739219	0.01885	0.01711	0.05430	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999846525099	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.93	-7.86	0.01052	-1.501000	0.02385	-2.162000	0.04122	-1.500000	0.01031	0.000000	0.06391	0.000000	0.08366	0.719000	0.34739	0.0714:0.6347:0.1927:0.1012	11.478	0.49556	37	0.98026	MiT/TFE transcription factors, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1456.98	33	chrX	49030447	.	C	G	1456.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=881;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.72;ReadPosRankSum=-1.167e+00;SOR=0.644	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1315	20	0	1	0
chrX	49039321	49039321	G	A	exonic	TFE3	.	nonsynonymous SNV	TFE3:NM_001282142:exon3:c.C5T:p.S2L	Renal cell carcinoma, papillary, 1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.081	B	0.006	B	0.033	N	0.592	D	0.975	L	2.36	T	-1.075	T	0.033	T	0.372	3.606	18.35	4.5	1.032	4.104	10.422	0.049	0.00633501382377	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1264471344	3.693e-06	3.652e-06	4.101e-06	2.843e-06	3.338e-05	8.6e-07	5.8e-07	9.6e-07	2.7e-07	0	0	0	3.338e-05	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.213	0.26467	T	0.081	0.24602	B	0.006	0.12133	B	0.033198	0.24930	N	0.326142	0.592321	0.32467	D	1.7	0.43825	L	2.36	0.16089	T	-1.73	0.41046	N	0.299	0.33796	-1.0749	0.08369	T	0.033	0.14290	T	10	0.24231541	0.41425	T	0.006335	0.16639	T	0.049	0.13647	0.27	0.21893	0.138757226776	0.13463	0.5193158588637525	0.51854	0.814098478581	0.66863	0.759120702744	0.75799	T	0.589346	0.86673	D	-0.247526	0.14404	T	-0.59333	0.13380	T	0.7932049036026	0.45900	D	0.885811	0.61165	D	0.2122582	0.43572	0.26008326	0.51767	0.2122582	0.43572	0.26008326	0.51766	-3.557	0.17239	T	.	.	0.142	0.31177	B	.	.	4.345984	0.66707	25.0	0.99770152349359653	0.85834	0.95598	0.65363	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999971519615	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.36	4.5	0.54382	3.035000	0.49449	11.610000	0.93539	0.676000	0.76740	0.982000	0.35529	1.000000	0.68203	1.000000	0.97212	0.0948:0.0:0.9052:0.0	10.422	0.43544	36	0.98055	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1111	316.45	92	chrX	49039321	.	G	A	316.45	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-2.018e+00;DP=1222;ExcessHet=0.6776;FS=177.302;InbreedingCoeff=-0.1672;MLEAC=5;MLEAF=0.139;MQ=60.00;MQRankSum=0.00;QD=0.84;ReadPosRankSum=-3.700e-02;SOR=10.330	GT:AD:DP:GQ:PL	0/0:41,12:53:9:0,9,602	14	0	4	3
chrX	49067949	49067949	C	T	exonic	CCDC120	.	nonsynonymous SNV	CCDC120:NM_001163321:exon10:c.C1835T:p.P612L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.969	D	0.638	P	0.014	N	0.996	D	0.69	N	.	.	-1.044	T	0.103	T	0.255	2.828	15.42	3.9	1.987	1.241	6.695	0.050	0.042665900494	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1428675734	1.934e-06	1.821e-06	1.422e-06	3.022e-06	0.0003	3.2e-07	1.2e-07	.	.	4.046e-05	0	0	0	0	0.0003	0	0	0	1.791e-05	1.742e-05	2.578e-05	0	6.451e-05	2.97e-06	1.11e-06	1.068e-05	3.99e-06	6.451e-05	0	0	0	0	0	0	0	0	0	0.041	0.41915	D	0.096	0.40747	T	0.969	0.56768	D	0.638	0.52030	P	0.014379	0.28553	N	0.329671	0.996437	0.43202	D	1.5	0.37844	L	.	.	.	0.4	0.03463	N	0.305	0.50688	-1.0440	0.16118	T	0.103	0.37994	T	9	0.17611185	0.32579	T	0.042666	0.60583	D	0.050	0.13987	0.406	0.43902	0.082315109003	0.07666	0.31644555113373757	0.31557	.	.	0.750782370567	0.74562	T	0.006611	0.06037	T	-0.113579	0.34179	T	-0.400925	0.33276	T	0.668428003787994	0.39267	D	0.873013	0.58094	D	0.067126155	0.14508	0.1240576	0.29906	0.067126155	0.14508	0.1240576	0.29906	-5.259	0.40406	T	.	.	0.097	0.29088	B	.;.;.;.;.	.;.;.;.;.	3.136333	0.42404	21.5	0.99815080158367131	0.89885	0.67373	0.33409	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.951941708750672	0.27986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.83	3.9	0.44240	1.335000	0.33444	4.607000	0.44021	0.545000	0.25583	0.999000	0.42656	1.000000	0.68203	0.913000	0.44837	0.1999:0.6095:0.1906:0.0	6.695	0.22384	14	0.98855	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1136.08	38	chrX	49067949	.	C	T	1136.08	.	AC=2;AF=0.048;AN=42;DP=724;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.9999;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.56;SOR=1.209	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1164,108,0	20	1	0	0
chrX	49067976	49067976	A	G	exonic	CCDC120	.	nonsynonymous SNV	CCDC120:NM_001163321:exon10:c.A1862G:p.H621R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.932	P	0.888	P	0.000	D	0.988	N	1.1	L	.	.	-1.061	T	0.105	T	0.278	1.990	12.61	3.31	1.596	1.002	3.893	0.049	0.0303051339725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.399	0.15059	T	0.029	0.19866	B	0.016	0.17743	B	0.000013	0.62929	D	0.112777	0.98822	0.24434	N	1.895	0.50365	L	.	.	.	-1.03	0.27052	N	0.244	0.45047	-1.0611	0.11483	T	0.105	0.38341	T	9	0.22086889	0.38795	T	0.030305	0.52646	D	0.049	0.13647	0.187	0.09646	0.176862962021	0.17281	0.4714988749202554	0.47068	.	.	0.743005514145	0.73415	T	0.032249	0.22404	T	-0.160688	0.26655	T	-0.468594	0.25667	T	0.835251688957214	0.48945	D	0.744825	0.36507	T	0.1819656	0.39392	0.23199339	0.48348	0.1819656	0.39392	0.23199339	0.48347	-2.775	0.07955	T	.	.	0.108	0.29367	B	.;.;.;.;.	.;.;.;.;.	1.528365	0.19615	14.35	0.99355211441981151	0.60779	0.09484	0.15229	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.860918194974221	0.25224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.53	3.31	0.37025	1.344000	0.33547	6.963000	0.57064	0.686000	0.82685	0.795000	0.29657	1.000000	0.68203	0.512000	0.29290	0.5608:0.3123:0.1268:0.0	3.893	0.08629	14	0.98855	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	503.98	38	chrX	49067976	.	A	G	503.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.000e+00;DP=738;ExcessHet=0.0000;FS=1.256;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.00;ReadPosRankSum=0.869;SOR=0.420	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1180	20	0	1	0
chrX	49207051	49207051	T	G	exonic	CACNA1F	.	nonsynonymous SNV	CACNA1F:NM_001256789:exon44:c.A5185C:p.T1729P	Aland Island eye disease, X-linked;Cone-rod dystrophy, X-linked, 3, X-linked recessive;Night blindness, congenital stationary (incomplete), 2A, X-linked, X-linked	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.983	D	0.644	P	0.003	N	1.000	N	0.755	N	-3.93	D	0.222	D	0.815	D	0.449	-0.254	2.779	2.82	0.699	0.035	5.008	0.360	0.232005486142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.20078	T	0.36	0.17166	T	0.128	0.27003	B	0.016	0.17743	B	0.003123	0.00941	N	2.564980	1	0.08975	N	0.895	0.22405	L	-4.01	0.96370	D	0.46	0.04694	N	0.166	0.17553	0.222	0.86275	D	0.815	0.93780	D	10	0.14049453	0.26705	T	0.232005	0.88302	D	0.360	0.68052	0.291	0.25241	0.890462149368	0.88938	0.2544160471330731	0.25355	0.291540691869	0.31561	0.342421293259	0.16801	T	0.080465	0.36369	T	0.0904043	0.63236	D	-0.107917	0.62777	T	0.270854324102402	0.23784	T	0.529347	0.17530	T	0.14863142	0.33923	0.22688407	0.47680	0.14863142	0.33922	0.22688407	0.47679	-2.928	0.09426	T	.	.	0.084	0.09675	B	.;.;.	.;.;.	0.815920	0.11871	8.436	0.75799823728591453	0.11216	0.03966	0.09375	N	AEFI	.	.	.	.	.	.	.	.	.	0.9747355672706	0.29569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.97	2.82	0.32061	-0.139000	0.10338	0.151000	0.15292	0.661000	0.55757	0.000000	0.06391	0.099000	0.22647	0.498000	0.28972	0.0:0.1358:0.0:0.8642	5.008	0.13642	37	0.98026	.;.;Voltage-gated calcium channel subunit alpha, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2385.98	40	chrX	49207051	.	T	G	2385.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.914;DP=952;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=1.72;SOR=0.652	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chrX	49208567	49208567	T	C	exonic	CACNA1F	.	nonsynonymous SNV	CACNA1F:NM_001256789:exon43:c.A5071G:p.T1691A	Aland Island eye disease, X-linked;Cone-rod dystrophy, X-linked, 3, X-linked recessive;Night blindness, congenital stationary (incomplete), 2A, X-linked, X-linked	.	.	.	.	.	.	.	.	.	.	1503257	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.82	T	0.0	B	0.0	B	0.451	N	1.000	N	-0.84	N	-3.79	D	-0.283	T	0.534	D	0.063	-2.018	0.007	-1.79	-0.455	-0.303	9.454	0.238	0.0342588863887	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1198251463	4.56e-06	4.553e-06	6.806e-06	0	0.0002	1.34e-06	9.7e-07	2.261e-05	1.226e-05	0	8.53e-05	0	0	0	0.0002	0	2.172e-05	0	9.118e-06	8.743e-06	1.288e-05	0	9.735e-05	0	0	.	.	0	0	9.735e-05	0	0	0	0	0	0	0	0.802	0.03209	T	0.731	0.05146	T	0.0	0.02946	B	0.0	0.01387	B	0.450573	0.04812	N	1.401840	1	0.08975	N	-0.145	0.04423	N	-3.87	0.95922	D	-0.33	0.12472	N	0.053	0.04547	-0.2826	0.75469	T	0.534	0.82762	D	10	0.029898167	0.01116	T	0.034259	0.55552	D	0.238	0.54217	0.157	0.06070	0.376089632046	0.37223	0.27417202825827286	0.27330	0.219439555169	0.24485	0.287760585546	0.08596	T	0.082752	0.36900	T	-0.262632	0.12593	T	-0.502539	0.22085	T	0.00812467811588996	0.00097	T	0.459554	0.13284	T	0.038909934	0.05273	0.05832419	0.10759	0.038909934	0.05272	0.05832419	0.10758	-4.1	0.25290	T	0.06277890335518323	0.01884	0.066	0.02200	B	.;.;.	.;.;.	-0.664715	0.01404	0.082	0.17367538661287538	0.00503	0.00295	0.01577	N	AEFI	.	.	.	.	.	.	.	.	.	0.95327010886663	0.28064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.86	-1.79	0.07504	-0.294000	0.08346	-2.871000	0.03276	-0.206000	0.08541	0.000000	0.06391	0.000000	0.08366	0.251000	0.23288	0.0:0.3272:0.0:0.6728	9.454	0.37907	37	0.98026	.;.;Voltage-gated calcium channel subunit alpha, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1756.98	35	chrX	49208567	.	T	C	1756.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=869;ExcessHet=0.0000;FS=3.615;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.21;ReadPosRankSum=0.968;SOR=0.974	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1206	20	0	1	0
chrX	49212776	49212776	C	T	exonic	CACNA1F	.	nonsynonymous SNV	CACNA1F:NM_001256789:exon33:c.G3833A:p.R1278H	Aland Island eye disease, X-linked;Cone-rod dystrophy, X-linked, 3, X-linked recessive;Night blindness, congenital stationary (incomplete), 2A, X-linked, X-linked	.	.	.	.	.	.	.	.	.	.	850137	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.994	D	0.000	N	1.000	D	1.86	L	-4.04	D	0.444	D	0.936	D	0.504	3.193	16.69	4.75	1.947	5.810	15.695	0.739	0.209395548001	.	.	9.381e-05	0	0	0	0	0.0001	0	0.0001	9.06e-05	14	154602	rs782330306	0.0002	0.0002	0.0002	0.0001	0.0005	0.0001	0.0001	0.0002	0.0002	3.79e-05	8.545e-05	5.17e-05	0	2.472e-05	0.0005	0.0002	0.0001	1.859e-05	0.0001	0.0001	0.0001	8.935e-05	0.0003	7.576e-05	6.087e-05	0.0001	8.99e-05	0	0	0.0003	0	0	0	0	0.0002	0	0	0.065	0.37536	T	0.334	0.18340	T	1.0	0.90584	D	0.994	0.82059	D	0.000244	0.00537	N	3.751840	0.999989	0.54805	D	2.47	0.71715	M	-4.12	0.96716	D	-4.52	0.78302	D	0.479	0.51405	0.444	0.89742	D	0.936	0.97900	D	10	0.37038147	0.53428	T	0.209396	0.87197	D	0.739	0.90939	.	.	0.90617919937	0.90524	0.7865700768145548	0.78609	0.805079556245	0.66422	0.749691069126	0.74400	T	0.880397	0.97488	D	0.0456704	0.57784	T	0.107261	0.77392	D	0.320626340015907	0.25847	T	0.948405	0.80130	D	0.3323757	0.55665	0.2672007	0.52574	0.3323757	0.55665	0.2672007	0.52573	-12.682	0.88556	D	0.22344521764392847	0.30162	0.299	0.64577	B	.;.;.	.;.;.	4.960941	0.82019	27.7	0.99920382569407085	0.98721	0.92076	0.54891	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999482415022961	0.39952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.75	4.75	0.59954	5.921000	0.69750	4.848000	0.45348	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:1.0:0.0:0.0	15.695	0.77249	38	0.97995	.;.;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1440.98	37	chrX	49212776	.	C	T	1440.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.910;DP=807;ExcessHet=0.0000;FS=4.681;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.10;ReadPosRankSum=-4.430e-01;SOR=0.787	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	20	0	1	0
chrX	49219766	49219768	TCC	-	exonic	CACNA1F	.	nonframeshift deletion	CACNA1F:NM_001256789:exon20:c.2409_2411del:p.E814del	Aland Island eye disease, X-linked;Cone-rod dystrophy, X-linked, 3, X-linked recessive;Night blindness, congenital stationary (incomplete), 2A, X-linked, X-linked	.	17	1487	11	5	2	23	0.00701169	.	.	706258	CACNA1F-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0141	.	0.0015	0.0003	0.0017	0.0024	0.0012	0.0014	0.0049	0.0021	0.0001537	4	26028	rs782500267	0.0013	0.0066	0.0018	0.0001	0.0015	0.0012	0.0012	0.0014	0.0014	0.0005	0.0004	0.0004	0.0005	0.0007	0.0008	0.0015	0.0009	0.0008	6.462e-05	0.0002	7.767e-05	3.217e-05	0.0004	2.981e-05	2.122e-05	2.742e-05	1.459e-05	0.0001	0	9.854e-05	0	0	0	0	3.813e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	120.94	35	chrX	49219765	.	TTCC	T	120.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.225e+00;DP=851;ExcessHet=0.0000;FS=1.188;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.34;ReadPosRankSum=-5.700e-02;SOR=0.880	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chrX	49319734	49319734	A	T	exonic	GAGE10	.	nonsynonymous SNV	GAGE10:NM_001098413:exon5:c.A335T:p.K112M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.003	B	0.016	B	.	.	1.000	N	0.895	L	2.91	T	-0.966	T	0.018	T	0.23	-0.118	3.421	-0.701	-0.315	-0.635	2.463	0.023	0.00146938717643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.889e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.031	0.53788	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.91	0.10008	T	-0.84	0.22944	N	0.233	0.26233	-0.9662	0.37974	T	0.018	0.07423	T	9	0.087542295	0.14989	T	0.001469	0.02241	T	0.023	0.04649	0.438	0.49157	0.0401082797425	0.02173	0.010120677502946795	0.00974	0.00750058978399	0.00664	0.304893493652	0.11135	T	.	.	.	-0.430483	0.01472	T	-0.856136	0.00886	T	0.0439375365395882	0.04408	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.34927	B	.	.	0.775834	0.11457	8.064	0.51726025860187996	0.04616	0.00601	0.02681	N	AEFI	.	.	.	.	.	.	.	.	.	1.340489349499E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.56	-0.701	0.10702	-0.593000	0.05835	-3.381000	0.02830	-0.943000	0.02073	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2537:0.3164:0.4299:0.0	2.463	0.04269	51	0.97631	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	54.07	15	chrX	49319734	.	A	T	54.07	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.395e+00;DP=227;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0309;MLEAC=1;MLEAF=0.024;MQ=22.28;MQRankSum=0.622;QD=2.35;ReadPosRankSum=0.970;SOR=0.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:12,0:12:36:.:.:0,36,484	20	0	1	0
chrX	49332776	49332776	A	T	exonic	GAGE13;GAGE2D;GAGE2E;GAGE8	.	nonsynonymous SNV	GAGE2D:NM_001098407:exon2:c.A39T:p.R13S	.	.	548	918	55	1	0	57	0.0301109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.626	P	0.34	B	.	.	1.000	N	0.995	L	2.43	T	-1.027	T	0.034	T	0.13	1.685	11.59	0.78	0.561	0.553	.	0.009	0.0963211805793	.	.	0.0021	0	0	0.0870	0	0	0	0.0127	.	.	.	rs782197330	0.0004	0.0024	0.0006	1.027e-05	0.0011	0.0004	0.0004	0.0008	0.0007	0.0002	0.0011	0.0007	0.0004	0.0004	0.0006	0.0004	0.0003	0.0002	0.0003	0.0033	0.0004	0	0.0005	0.0002	0.0002	0.0002	0.0002	0.0003	0	0	0	0	0.0015	0	0.0005	0	0	.	.	.	0.065	0.44702	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.179	0.19325	-1.0272	0.21363	T	0.034	0.14639	T	8	0.10150775	0.18551	T	0.096321	0.76582	D	.	.	.	.	0.0551355673512	0.04727	0.044374252869738985	0.04381	.	.	0.481666773558	0.36287	T	0.023792	0.18095	T	-0.449224	0.01141	T	-0.883056	0.00629	T	0.489776283502579	0.32256	T	0.334567	0.07109	T	0.41984916	0.62081	0.30143943	0.56176	0.41984916	0.62082	0.30143943	0.56175	-4.846	0.35123	T	.	.	0.287	0.51951	B	.	.	1.310242	0.17132	12.98	0.98174813158402829	0.38890	0.00875	0.03461	N	AEFI	.	.	.	.	.	.	.	.	.	1.42886845054689E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	0.78	0.17701	-0.334000	0.07927	-1.097000	0.06340	-0.565000	0.04808	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	53	0.97589	GAGE|GAGE	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.1316	161.85	21	chrX	49332776	.	A	T	161.85	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.195e+00;DP=273;ExcessHet=0.0454;FS=4.060;InbreedingCoeff=0.1396;MLEAC=5;MLEAF=0.132;MQ=29.40;MQRankSum=-1.559e+00;QD=4.37;ReadPosRankSum=2.20;SOR=0.136	GT:AD:DP:GQ:PL	0/0:11,0:11:33:0,33,446	15	1	3	2
chrX	49581689	49581689	C	G	exonic	GAGE12C;GAGE12D;GAGE12E;GAGE12H	.	nonsynonymous SNV	GAGE12C:NM_001098408:exon3:c.C121G:p.P41A	.	.	911	597	14	0	0	14	0.0115894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	.	.	1.000	N	2.65	M	2.8	T	-1.099	T	0.080	T	0.197	0.986	9.024	0.701	0.611	-0.127	.	0.019	.	.	.	0.0034	0	0.0003	0	0.0093	0.0057	0.0142	0.0051	3.84e-05	1	26028	rs201896467	0.0021	0.0017	0.0026	0.0006	0.0095	0.0020	0.0020	0.0059	0.0047	0.0001	0.0002	9.615e-05	0	0.0041	0.0095	0.0023	0.0020	0.0018	0.0014	0.0016	0.0018	0.0001	0.0022	0.0012	0.0011	0.0018	0.0016	0.0003	0	0.0003	0.0007	0	0.0040	0.0084	0.0022	0.0022	0.0015	0.004	0.65419	D	0.01	0.65728	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	1	0.08975	N	2.56	0.74772	M	2.8	0.11082	T	-5.51	0.85921	D	0.076	0.05037	-1.0990	0.04214	T	0.080	0.31675	T	8	0.009480864	0.00214	T	.	.	.	0.019	0.03383	0.418	0.45873	0.0482279557977	0.04254	0.006013480245299581	0.00570	.	.	0.433214783669	0.29648	T	0.07774	0.35726	T	-0.704998	0.00034	T	-0.790384	0.02154	T	0.156742638315522	0.17628	T	0.519848	0.16911	T	0.17311032	0.38040	0.24971037	0.50548	0.17311032	0.38040	0.24971037	0.50547	-4.037	0.24355	T	.	.	0.082	0.08899	B	.	.	1.206617	0.15994	12.24	0.95511457129746513	0.27115	0.01199	0.04277	N	AEFI	.	.	.	.	.	.	.	.	.	2.16215505458365E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.701	0.701	0.17263	-0.118000	0.10665	-3.980000	0.02414	0.271000	0.18527	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	.	.	.	361	0.84870	GAGE|GAGE	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.03125	2078.01	36	chrX	49581689	.	C	G	2078.01	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-4.830e-01;DP=786;ExcessHet=0.0000;FS=3.781;InbreedingCoeff=-0.0323;MLEAC=1;MLEAF=0.031;MQ=38.29;MQRankSum=-1.063e+00;QD=9.36;ReadPosRankSum=0.365;SOR=0.493	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1249	15	0	1	5
chrX	49591237	49591237	A	T	exonic	GAGE2A;GAGE2B;GAGE2C	.	nonsynonymous SNV	GAGE2B:NM_001098411:exon3:c.A122T:p.E41V	.	.	721	774	27	0	0	27	0.0171429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.997	D	.	.	1.000	N	2.38	M	2.81	T	-1.067	T	0.065	T	0.214	1.796	11.96	-0.325	-0.132	1.987	3.627	0.038	.	.	.	0.0087	0.0014	0.0006	0	0.0233	0.0120	0.0220	0.0122	0.0006531	17	26028	rs200636160	0.0069	0.0088	0.0094	1.011e-05	0.0080	0.0067	0.0066	0.0078	0.0077	0.0005	0.0006	0.0009	0	0.0121	0.0067	0.0080	0.0058	0.0048	0.0046	0.0057	0.0060	0	0.0084	0.0042	0.0041	0.0072	0.0069	0.0004	0.0265	0.0006	0.0005	0	0.0095	0.0055	0.0079	0.0034	0.0084	0.05	0.39575	D	0.006	0.70582	D	0.999	0.77913	D	0.997	0.86255	D	.	.	.	.	1	0.08975	N	2.74	0.80084	M	2.81	0.10975	T	-3.9	0.72932	D	0.059	0.03069	-1.0666	0.10177	T	0.065	0.26878	T	9	0.0044246614	0.00090	T	.	.	.	0.038	0.09825	.	.	.	.	0.014046565320850092	0.01361	.	.	.	.	.	0.035837	0.23874	T	-0.709744	0.00032	T	-0.786725	0.02256	T	0.0613656344429564	0.07381	T	0.424758	0.11367	T	0.22350249	0.44973	0.12378093	0.29843	0.22350249	0.44973	0.12378093	0.29842	-4.815	0.34766	T	.	.	0.230	0.46285	B	.	.	2.309269	0.29559	18.16	0.98125996659211223	0.38473	0.02861	0.07626	N	AEFI	.	.	.	.	.	.	.	.	.	1.69540920329682E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.06	-0.325	0.12072	0.763000	0.26183	-1.950000	0.04446	-0.583000	0.04693	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.5866:0.4134:0.0:0.0	3.627	0.07658	361	0.84870	GAGE|GAGE	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.05	1788.35	39	chrX	49591237	.	A	T	1788.35	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-2.460e+00;DP=1588;ExcessHet=0.1128;FS=1.452;InbreedingCoeff=-0.0672;MLEAC=2;MLEAF=0.050;MQ=37.05;MQRankSum=-2.283e+00;QD=2.14;ReadPosRankSum=1.86;SOR=0.784	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1249	18	0	2	1
chrX	49603671	49603671	C	T	exonic	GAGE1	.	nonsynonymous SNV	GAGE1:NM_001040663:exon4:c.C209T:p.P70L,	.	.	402	1115	5	0	0	5	0.00223714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.641	P	0.117	B	.	.	1.000	N	1.96	M	2.94	T	-1.014	T	0.022	T	0.276	0.397	6.154	0.675	0.145	-0.313	3.671	0.041	.	.	0.0010596	0.0019	0	0	0	0	0	0	0.0199	0.0001876	29	154602	rs782181968	8.382e-05	0.0002	0.0001	5.508e-06	0.0005	6.962e-05	6.452e-05	0.0004	0.0003	7.6e-05	2.842e-05	0	6.622e-05	0	0	6.177e-05	0.0001	0.0005	0.0002	0.0003	0.0002	0	0.0010	0.0001	9.126e-05	0.0003	0.0002	0.0001	0	0	0	0	0	0	0.0002	0	0.0010	0.049	0.39820	D	0.072	0.43344	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.94	0.09728	T	-8.04	0.96594	D	0.087	0.06454	-1.0145	0.25497	T	0.022	0.09330	T	9	0.00710994	0.00162	T	.	.	.	0.041	0.10877	0.496	0.58520	0.117506650769	0.11410	0.008057170614826838	0.00770	0.242568304151	0.26767	0.447501063347	0.31602	T	.	.	.	-0.70005	0.00036	T	-0.780456	0.02439	T	0.036862142139097	0.03132	T	0.474753	0.14169	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.18787	B	.;.;.	.;.;.	0.543138	0.09120	5.900	0.8122950402233956	0.13583	0.00451	0.02188	N	AEFI	.	.	.	.	.	.	.	.	.	1.22119035807814E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.56	0.675	0.17119	-0.085000	0.11215	-3.026000	0.03128	0.459000	0.21562	0.021000	0.19753	0.000000	0.08366	0.008000	0.08271	0.0:0.7413:0.0:0.2587	3.671	0.07810	361	0.84870	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	239.98	34	chrX	49603671	.	C	T	239.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.35;DP=962;ExcessHet=0.0000;FS=4.208;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=44.59;MQRankSum=-1.732e+00;QD=3.20;ReadPosRankSum=0.239;SOR=1.387	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,929	20	0	1	0
chrX	49689423	49689423	T	C	exonic	PAGE1	.	nonsynonymous SNV	PAGE1:NM_003785:exon5:c.A413G:p.E138G,	.	.	438	1017	40	27	0	94	0.0441729	.	.	706262	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.985	D	0.795	P	.	.	1.000	N	2.445	M	2.42	T	-1.057	T	0.052	T	0.345	1.616	11.36	-0.188	-0.133	0.630	2.833	0.069	.	0.0057	0.00794702	0.0100	0.0011	0.0029	0	0.0073	0.0099	0.0174	0.0319	0.0093595	1447	154602	rs151117508	0.0091	0.0092	0.0086	0.0102	0.0574	0.0089	0.0088	0.0510	0.0486	0.0013	0.0032	0.0136	9.123e-05	0.0084	0.0574	0.0080	0.0095	0.0311	0.0074	0.0080	0.0075	0.0070	0.0277	0.0070	0.0068	0.0219	0.0198	0.0014	0	0.0069	0.0186	0.0003	0.0103	0.0515	0.0095	0.0102	0.0277	0.0	0.91255	D	0.0	0.92824	D	0.985	0.61118	D	0.795	0.57940	P	.	.	.	.	1	0.08975	N	2.395	0.69210	M	2.42	0.15376	T	-1.7	0.40468	N	0.098	0.07949	-1.0567	0.12595	T	0.052	0.22269	T	9	0.004495859	0.00092	T	.	.	.	0.069	0.20116	.	.	.	.	0.03342421481623945	0.03290	0.247465964204	0.27293	0.304119497538	0.11019	T	0.041785	0.25971	T	-0.607123	0.00132	T	-0.622554	0.10987	T	0.0351667141618346	0.02836	T	0.621038	0.23867	T	0.1517187	0.34476	0.17844623	0.40515	0.1517187	0.34476	0.17844623	0.40514	-3.676	0.18965	T	.	.	0.110	0.21277	B	.	.	2.369921	0.30405	18.43	0.993574185376907	0.60862	0.00675	0.02904	N	AEFI	.	.	.	.	.	.	.	.	.	9.47816147302976E-5	0.04910	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.03	-0.188	0.12612	0.650000	0.24544	-0.051000	0.12545	0.366000	0.20181	0.130000	0.23345	0.000000	0.08366	0.003000	0.05239	0.0:0.3419:0.0:0.6581	2.833	0.05166	162	0.93704	GAGE|GAGE	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	2819.66	34	chrX	49689423	.	T	C	2819.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.070;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=16.30;ReadPosRankSum=1.04;SOR=0.646	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1094	19	1	1	0
chrX	50310483	50310483	A	G	exonic	CCNB3	.	nonsynonymous SNV	CCNB3:NM_033031:exon6:c.A2314G:p.I772V,	.	.	.	.	.	.	.	.	.	.	.	2680829	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.043	B	0.04	B	.	.	1.000	N	1.61	L	1.32	T	-1.011	T	0.072	T	0.094	0.941	8.837	1.62	0.199	1.272	5.991	0.016	0.00512583156185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.825e-06	1.821e-06	1.362e-06	2.767e-06	2.378e-06	3e-07	1.1e-07	4e-07	1.5e-07	0	0	0	0	0	0	2.378e-06	0	0	8.868e-06	8.699e-06	1.284e-05	0	3.216e-05	0	0	.	.	3.216e-05	0	0	0	0	0	0	0	0	0	0.635	0.05076	T	0.177	0.29740	T	0.043	0.21573	B	0.04	0.23831	B	.	.	.	.	1	0.08975	N	1.525	0.38595	L	1.32	0.35219	T	-0.32	0.12283	N	0.039	0.01274	-1.0112	0.26541	T	0.072	0.29323	T	8	0.062927336	0.08121	T	0.005126	0.13001	T	0.016	0.02506	0.243	0.17677	0.204265027416	0.20035	0.03650998690567417	0.03597	0.129571704271	0.14605	0.272096097469	0.06416	T	0.043586	0.26547	T	-0.452346	0.01094	T	-0.88754	0.00594	T	0.051205674832967	0.05710	T	0.343566	0.07491	T	0.038025994	0.04986	0.045680933	0.06200	0.038025994	0.04986	0.045680933	0.06200	-4.984	0.36666	T	.	.	0.091	0.15475	B	.;.	.;.	-0.589947	0.01599	0.108	0.68891267272984202	0.08799	0.12507	0.17311	N	AEFBI	.	.	.	.	.	.	.	.	.	3.82520300837843E-4	0.06781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.19	1.62	0.22817	0.705000	0.25350	3.433000	0.38328	-0.055000	0.16736	0.000000	0.06391	0.083000	0.22416	0.005000	0.06747	0.5684:0.0:0.0:0.4316	5.991	0.18695	428	0.80967	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1488.98	34	chrX	50310483	.	A	G	1488.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.446;DP=821;ExcessHet=0.0000;FS=0.678;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=0.040;SOR=0.772	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1157	20	0	1	0
chrX	51496179	51496179	C	G	exonic	NUDT11	.	nonsynonymous SNV	NUDT11:NM_018159:exon1:c.G266C:p.R89P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.012	B	0.025	B	0.000	N	0.855	D	1.64	L	3.15	T	-1.032	T	0.016	T	0.421	1.460	10.83	-1.18	-0.160	4.249	2.949	0.178	0.00656134667829	.	.	1.14e-05	0	0	0	0	2.084e-05	0	0	1.29e-05	2	154602	rs199633559	2.095e-05	3.187e-05	1.361e-05	3.576e-05	7.389e-05	1.395e-05	1.165e-05	2.523e-05	1.461e-05	0	0	0	3.311e-05	0	0	1.9e-05	4.34e-05	7.389e-05	2.684e-05	3.481e-05	3.854e-05	0	3.766e-05	7.13e-06	2.98e-06	6.25e-06	2.34e-06	0	0	0	0.0004	0	0	0	3.766e-05	0	0	0.022	0.48642	D	0.077	0.42436	T	0.012	0.16265	B	0.025	0.20508	B	0.000064	0.52346	N	0.125962	.	.	.	1.755	0.45626	L	3.15	0.07820	T	-5.77	0.87911	D	0.466	0.50237	-1.0321	0.19777	T	0.016	0.06569	T	9	0.1820983	0.33473	T	0.006561	0.17301	T	0.178	0.44724	0.55	0.66576	0.206203607746	0.20212	0.9165891747605692	0.91633	2.13481855974	0.95210	0.792185306549	0.80775	T	0.141615	0.47676	T	-0.247348	0.14427	T	-0.593075	0.13400	T	0.916521906852722	0.57399	D	0.773423	0.40508	T	0.8803464	0.89695	0.8307718	0.90235	0.8803464	0.89696	0.8307718	0.90235	-9.276	0.69456	D	.	.	0.806	0.77569	P	.	.	3.970739	0.58303	24.0	0.9633091023459559	0.29446	0.70842	0.34759	D	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.999924540559036	0.46280	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.25	-1.18	0.09122	3.637000	0.54065	1.287000	0.25388	0.469000	0.21855	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.1587:0.4197:0.3106:0.1109	2.949	0.05496	242	0.90534	NUDIX hydrolase domain|NUDIX hydrolase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	664.98	33	chrX	51496179	.	C	G	664.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.23;DP=879;ExcessHet=0.0000;FS=5.045;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.35;MQRankSum=-9.408e+00;QD=3.50;ReadPosRankSum=-8.830e-01;SOR=0.986	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1239	20	0	1	0
chrX	51618674	51618674	G	A	exonic	CENPVL3	.	nonsynonymous SNV	CENPVL3:NM_001355276:exon1:c.C200T:p.A67V,	.	.	972	545	2	3	0	8	0.00728597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000529801	.	.	.	.	.	.	.	.	0.00146	38	26028	rs538868460	0.0051	0.0021	0.0049	0.0055	0.0185	0.0048	0.0047	0.0118	0.0097	0.0007	0.0025	0.0252	0	0.0008	0.0185	0.0055	0.0059	0.0005	0.0033	0.0035	0.0035	0.0031	0.0047	0.0031	0.0030	0.0042	0.0040	0.0005	0	0.0031	0.0253	0	0	0.0047	0.0047	0.0045	0.0011	.	.	.	0.536	0.09897	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.05287	.	.	.	.	.	.	.	0.004308492	0.00087	T	.	.	.	.	.	.	.	.	.	0.0970760568449574	0.09638	.	.	.	.	.	0.01623	0.13458	T	.	.	.	.	.	.	.	.	.	0.246775	0.03632	T	0.028518168	0.02202	0.09111467	0.21405	0.028518168	0.02201	0.09111467	0.21404	-5.089	0.37791	T	.	.	0.070	0.03552	B	.	.	-0.144471	0.03387	0.607	0.97837391998570089	0.36305	0.00190	0.01102	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.682707950331134	0.22498	.	.	.	.	.	.	.	.	.	.	.	.	0.0762906	0.17648	2.4	-0.294	0.12196	-1.058000	0.03593	-0.537000	0.08604	-0.121000	0.13915	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.3043:0.0:0.6957:0.0	7.169	0.24883	238	0.90711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	502.98	33	chrX	51618674	.	G	A	502.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=812;ExcessHet=0.0000;FS=3.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.19;ReadPosRankSum=-1.945e+00;SOR=1.211	GT:AD:DP:GQ:PL	0/0:41,0:41:87:0,87,1165	20	0	1	0
chrX	53076671	53076671	C	A	exonic	GPR173	.	nonsynonymous SNV	GPR173:NM_018969:exon2:c.C50A:p.P17Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.81	T	0.242	B	0.055	B	0.005	N	0.982	N	1.1	L	1.24	T	-1.033	T	0.047	T	0.214	-0.999	0.262	3.25	0.760	0.537	4.225	0.019	0.00653281048377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.12	0.35970	T	0.242	0.30930	B	0.055	0.25995	B	0.004780	0.33407	N	0.293754	0.981683	0.25020	N	0	0.06538	N	1.24	0.36691	T	-1.03	0.76496	N	0.118	0.10769	-1.0331	0.19459	T	0.047	0.20235	T	10	0.06589678	0.08957	T	0.006533	0.17215	T	0.019	0.03383	0.187	0.09646	0.202312658747	0.19855	0.2062213237142474	0.20539	0.738911916138	0.63132	0.487107425928	0.37038	T	0.047174	0.27643	T	-0.349476	0.04760	T	-0.739775	0.03900	T	0.121074274703579	0.14534	T	0.613539	0.23382	T	0.06867761	0.14982	0.1008684	0.24130	0.06867761	0.14982	0.1008684	0.24130	-3.814	0.21014	T	.	.	0.070	0.03625	B	.;.	.;.	0.800198	0.11711	8.288	0.52971025873828459	0.04849	0.31022	0.24232	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999986905306499	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.12	3.25	0.36363	0.703000	0.25321	1.026000	0.23443	0.599000	0.40250	0.018000	0.19461	0.518000	0.25293	0.645000	0.32557	0.2272:0.6499:0.0:0.1229	4.225	0.10033	323	0.86843	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	181.98	33	chrX	53076671	.	C	A	181.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.340e-01;DP=756;ExcessHet=0.0000;FS=31.579;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.64;ReadPosRankSum=1.28;SOR=5.135	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1111	20	0	1	0
chrX	53593377	53593377	A	G	exonic	HUWE1	.	nonsynonymous SNV	HUWE1:NM_031407:exon32:c.T3728C:p.V1243A,	Mental retardation, X-linked syndromic, Turner type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.213	B	0.134	B	0.000	D	0.999	D	0.205	N	1.25	T	-1.057	T	0.068	T	0.491	2.510	14.35	5.23	1.758	9.002	13.199	0.249	0.0104089989574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.005	0.72224	D	0.136	0.27347	B	0.063	0.27082	B	0.000036	0.55875	D	0.074618	0.994338	0.46766	D	1.245	0.31408	L	1.25	0.36512	T	-2.81	0.59389	D	0.465	0.68255	-1.0569	0.12543	T	0.068	0.28013	T	10	0.37334448	0.53644	T	0.010409	0.26915	T	0.249	0.55752	0.434	0.48500	0.672856149526	0.67009	0.6239681329449057	0.62329	1.21508690143	0.80939	0.818477153778	0.84795	D	0.657618	0.89685	D	-0.120146	0.33099	T	-0.410358	0.32183	T	0.97173285484314	0.69429	D	0.961604	0.85550	D	0.42467326	0.62401	0.42857	0.66566	0.42467326	0.62402	0.42857	0.66566	-7.911	0.61118	D	0.0840624739392681	0.04602	0.805	0.77536	P	.;.;.	.;.;.	3.611400	0.51059	23.0	0.99220397413743244	0.55870	0.99193	0.92604	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999978623	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.23	5.23	0.72570	8.969000	0.92986	11.245000	0.90552	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.199	0.59178	0	0.99858	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1485.08	35	chrX	53593377	.	A	G	1485.08	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.90;DP=731;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=28.56;ReadPosRankSum=-1.066e+00;SOR=0.588	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1198	20	1	0	0
chrX	54198398	54198398	G	A	exonic	WNK3	.	nonsynonymous SNV	WNK3:NM_001002838:exon23:c.C5158T:p.P1720S	.	.	418	1099	4	1	0	6	0.00272232	.	.	2430674	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.883	P	0.44	B	0.001	N	0.975	D	0.895	L	1.42	T	-1.059	T	0.075	T	0.366	2.874	15.57	5.45	2.273	2.144	16.988	0.078	0.00890658219571	.	.	9.772e-05	0.0001	0	0.0002	0	6.652e-05	0	0.0004	0.0001164	18	154602	rs200621254	9.661e-05	9.652e-05	8.985e-05	0.0001	0.0027	8.145e-05	7.592e-05	0.0015	0.0012	3.79e-05	5.691e-05	0	3.313e-05	0	0.0027	6.892e-05	0.0003	0.0004	8.951e-05	9.573e-05	8.995e-05	8.85e-05	0.0004	4.816e-05	3.689e-05	4.424e-05	2.636e-05	0.0001	0	0	0	0	0	0.0046	7.523e-05	0	0.0004	0.006	0.72154	D	0.03	0.54159	D	0.867	0.48537	P	0.44	0.45726	B	0.001263	0.39594	N	0.113704	0.975062	0.39157	D	1.87	0.49600	L	1.42	0.33189	T	-3.18	0.64478	D	0.159	0.25377	-1.0587	0.12083	T	0.075	0.30210	T	10	0.06356835	0.08301	T	0.008907	0.23487	T	0.078	0.22779	0.244	0.17830	0.110392049598	0.10638	0.39051237144291767	0.38966	0.216731289724	0.24195	0.338454246521	0.16206	T	0.349114	0.71701	T	-0.408713	0.02027	T	-0.510606	0.21252	T	0.074512489535748	0.09270	T	0.662034	0.27102	T	0.23445839	0.46267	0.41903836	0.65909	0.23445839	0.46267	0.41903836	0.65909	-3.726	0.19703	T	.	.	0.087	0.13174	B	.;.;.;.	.;.;.;.	2.617259	0.34002	19.50	0.99601967378931444	0.74278	0.79782	0.39602	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999336949581421	0.39185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.45	5.45	0.79688	2.198000	0.42339	5.629000	0.49110	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.988	0.86217	6	0.99319	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1053.98	36	chrX	54198398	.	G	A	1053.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.800e-01;DP=793;ExcessHet=0.0000;FS=3.555;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.76;ReadPosRankSum=-7.430e-01;SOR=1.035	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1310	20	0	1	0
chrX	54758921	54758921	T	C	exonic	ITIH6	.	nonsynonymous SNV	ITIH6:NM_198510:exon8:c.A1153G:p.S385G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.0	B	0.001	B	0.607	N	1.000	N	0.69	N	2.78	T	-0.940	T	0.019	T	0.03	0.415	6.255	-0.807	-0.101	0.505	7.813	0.027	0.00200747677272	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1238834799	1.829e-06	1.821e-06	1.362e-06	2.783e-06	1.876e-05	3e-07	1.1e-07	.	.	0	0	0	0	0	0	1.191e-06	0	1.876e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.527	0.07093	T	0.858	0.03428	T	0.0	0.02946	B	0.001	0.04355	B	0.607158	0.05680	N	1.222520	1	0.08975	N	0.11	0.08516	N	2.78	0.11298	T	-0.65	0.18877	N	0.039	0.01274	-0.9404	0.42552	T	0.019	0.07753	T	10	0.070865005	0.10367	T	0.002007	0.03642	T	0.027	0.05988	0.367	0.37524	0.555237559564	0.55182	0.3810823939445126	0.38023	0.00835390469041	0.00759	0.420240074396	0.27868	T	0.019978	0.15815	T	-0.63145	0.00094	T	-1.14481	0.00009	T	0.0207530108902944	0.00775	T	0.285971	0.05105	T	0.052406874	0.09768	0.068007395	0.14146	0.052406874	0.09767	0.068007395	0.14145	-2.769	0.07901	T	.	.	0.065	0.02012	B	.	.	0.353130	0.07262	3.864	0.91472330932494383	0.20744	0.03673	0.08938	N	AEFDI	.	.	.	.	.	.	.	.	.	8.77311462045272E-5	0.04703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.43	-0.807	0.10323	0.292000	0.18766	-0.170000	0.11235	0.654000	0.53741	0.000000	0.06391	0.000000	0.08366	0.879000	0.42020	0.0:0.4335:0.0:0.5665	7.813	0.28406	351	0.85421	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	1215.08	40	chrX	54758921	.	T	C	1215.08	.	AC=2;AF=0.048;AN=42;DP=745;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.38;SOR=1.151	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1426	20	1	0	0
chrX	54809806	54809806	A	G	exonic	MAGED2	.	nonsynonymous SNV	MAGED2:NM_014599:exon3:c.A130G:p.K44E	Bartter syndrome, type 5, antenatal, transient, X-linked recessive	.	439	1082	0	1	0	2	0.000923361	.	.	439264	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.99	T	0.99	D	0.979	D	0.000	D	1.000	N	0.805	L	0.98	T	-0.995	T	0.077	T	0.577	1.315	10.31	3.2	0.798	2.571	5.630	0.222	0.007661411742	0.0038	0.000794702	0.0040	0.0012	0.0015	0	0	0.0065	0.0027	0.0018	0.0029883	462	154602	rs11555928	0.0047	0.0047	0.0048	0.0047	0.0057	0.0046	0.0046	0.0056	0.0055	0.0006	0.0007	0.0021	0	0.0011	0.0002	0.0057	0.0035	0.0018	0.0027	0.0027	0.0029	0.0022	0.0048	0.0025	0.0024	0.0043	0.0041	0.0008	0	0.0009	0.0015	0	0.0010	0	0.0048	0.0020	0.0008	0.002	0.72154	D	1.0	0.42261	T	0.982	0.60036	D	0.952	0.69102	D	0.000102	0.50451	D	0.000000	1	0.19363	N	1.1	0.28011	L	0.96	0.42888	T	-0.43	0.20791	N	0.068	0.33469	-0.9950	0.31299	T	0.077	0.30798	T	10	0.0052116215	0.00113	T	0.007661	0.20325	T	0.222	0.51872	.	.	0.662532638527	0.65970	0.44486442733304665	0.44404	0.878080247472	0.69652	0.377601206303	0.21915	T	0.01894	0.15180	T	-0.486439	0.00680	T	-0.469178	0.25604	T	0.0270737403458536	0.01555	T	0.70223	0.31206	T	0.26182878	0.49242	0.33919218	0.59687	0.2900168	0.51994	0.37003294	0.62261	-2.668	0.07038	T	.	.	0.070	0.08224	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.226219	0.28416	17.79	0.98747854822047887	0.45602	0.54137	0.29542	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999912393134666	0.45857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.36	3.2	0.35826	1.213000	0.32011	3.906000	0.40380	0.756000	0.94297	0.622000	0.27931	0.967000	0.29559	0.597000	0.31313	0.8775:0.0:0.1225:0.0	5.630	0.16782	332	0.86382	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	859.98	34	chrX	54809806	.	A	G	859.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.350e-01;DP=762;ExcessHet=0.0000;FS=3.910;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.23;ReadPosRankSum=2.49;SOR=0.668	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1010	20	0	1	0
chrX	55013527	55013527	G	A	exonic	ALAS2	.	nonsynonymous SNV	ALAS2:NM_001037967:exon9:c.C1448T:p.P483L	Anemia, sideroblastic, 1, X-linked recessive;Protoporphyria, erythropoietic, X-linked, X-linked dominant	.	1	1500	14	7	0	28	0.00924703	.	.	212027	X-linked_sideroblastic_anemia_1|not_provided|not_specified	MONDO:MONDO:0020721,MedGen:C4551511,OMIM:300751,Orphanet:75563|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.999	D	0.993	D	0.000	D	1.000	D	1.27	L	-2.54	D	0.640	D	0.748	D	0.927	4.401	23.3	5.39	2.411	8.062	17.186	0.895	0.479974940484	0.0008	0.000264901	0.0014	0.0002	0.0002	0	0.0014	0.0020	0.0017	0.0015	0.0013583	210	154602	rs201062903	0.0017	0.0017	0.0017	0.0017	0.0034	0.0017	0.0016	0.0020	0.0019	0.0002	0.0001	0.0001	0	0.0009	0.0034	0.0020	0.0013	0.0017	0.0012	0.0012	0.0014	0.0009	0.0022	0.0011	0.0010	0.0018	0.0017	0.0003	0	0.0003	0	0	0.0008	0	0.0022	0.0013	0.0008	0.001	0.78490	D	0.001	0.83351	D	0.998	0.73220	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.7	0.18542	N	-2.54	0.89496	D	-8.78	0.97757	D	0.315	0.35727	0.640	0.92423	D	0.748	0.91398	D	10	0.22618556	0.39467	T	0.479975	0.94825	D	0.895	0.97022	.	.	0.964229165677	0.96384	0.920621072001771	0.92038	1.41697840939	0.85536	0.682381749153	0.64610	T	0.835118	0.96101	D	0.21438	0.75244	D	0.531487	0.95250	D	0.0939693889100236	0.11681	T	0.995663	0.98468	D	0.9384482	0.95089	0.96024287	0.98984	0.96490896	0.97770	0.9564598	0.98777	-13.116	0.89834	D	0.667831103804872	0.74231	0.816	0.78711	P	.;.;.;.	.;.;.;.	4.757443	0.76885	26.6	0.99873284018896535	0.95076	0.97902	0.77993	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999999998564963	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.39	5.39	0.77615	8.190000	0.89672	11.805000	0.96765	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.186	0.86748	104	0.95701	.;Aminotransferase, class I/classII|Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase;Aminotransferase, class I/classII|Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	1013.98	89	chrX	55013527	.	G	A	1013.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.96;DP=780;ExcessHet=0.0000;FS=0.803;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.39;ReadPosRankSum=2.03;SOR=0.765	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,989	20	0	1	0
chrX	55015725	55015725	C	T	exonic	ALAS2	.	nonsynonymous SNV	ALAS2:NM_001037967:exon7:c.G910A:p.E304K	Anemia, sideroblastic, 1, X-linked recessive;Protoporphyria, erythropoietic, X-linked, X-linked dominant	.	.	.	.	.	.	.	.	.	.	1896061	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.22	T	0.854	P	0.547	P	0.000	D	1.000	D	0.435	N	-3.49	D	0.507	D	0.736	D	0.672	4.326	22.7	5.75	2.576	7.818	17.851	0.687	0.712871194819	9.5e-05	.	2.35e-05	0	0	0	0.0002	2.144e-05	0	0	1.29e-05	2	154602	rs142713771	1.639e-05	1.639e-05	1.361e-05	2.201e-05	3.695e-05	1.024e-05	8.45e-06	9.65e-06	7.55e-06	0	0	0	3.311e-05	2.468e-05	0	1.663e-05	0	3.695e-05	1.807e-05	1.742e-05	1.285e-05	3.04e-05	3.296e-05	3e-06	1.12e-06	.	.	3.296e-05	0	0	0	0	0	0	1.892e-05	0	0	0.155	0.24758	T	0.245	0.25748	T	0.854	0.47077	P	0.547	0.49095	P	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.295	0.03650	N	-3.49	0.94621	D	-1.85	0.43334	N	0.559	0.60325	0.507	0.90649	D	0.736	0.90976	D	10	0.5077619	0.61918	D	0.712871	0.97667	D	0.687	0.88585	.	.	0.901057772881	0.90007	0.9283277697895067	0.92810	0.891168684966	0.70239	0.752092659473	0.74755	T	0.583874	0.86415	D	0.177004	0.71768	D	0.166771	0.81216	D	0.303344666957855	0.25141	T	0.984901	0.94937	D	0.6094481	0.73198	0.65662134	0.79894	0.6094481	0.73200	0.65662134	0.79895	-5.915	0.45562	T	0.11194169468056868	0.09631	0.099	0.29505	B	.;.;.;.	.;.;.;.	4.020923	0.59386	24.1	0.99845160063174754	0.92489	0.97140	0.72924	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999999999999999	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.75	5.75	0.90390	7.905000	0.86479	7.616000	0.62106	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.641000	0.32449	0.0:1.0:0.0:0.0	17.851	0.88658	104	0.95701	.;Aminotransferase, class I/classII|Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase;Aminotransferase, class I/classII|Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	852.98	38	chrX	55015725	.	C	T	852.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.405;DP=789;ExcessHet=0.0000;FS=7.480;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.80;ReadPosRankSum=-1.669e+00;SOR=1.478	GT:AD:DP:GQ:PL	0/0:34,0:34:90:0,90,1350	20	0	1	0
chrX	55146088	55146088	G	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C347A:p.T116K	.	.	389	931	201	1	0	203	0.0983051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.753	P	0.139	B	.	.	1.000	N	0.55	N	0.55	T	-1.038	T	0.075	T	0.138	0.884	8.588	1.6	1.084	1.636	6.091	0.065	0.0145806555527	.	.	.	.	.	.	.	.	.	.	2.59e-05	4	154602	rs908148278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.003	0.76473	D	0.753	0.43334	P	0.139	0.33484	B	.	.	.	.	1	0.08975	N	.	.	.	0.55	0.54728	T	-4.2	0.75695	D	0.166	0.24883	-1.0379	0.17954	T	0.075	0.30272	T	9	0.13617307	0.25909	T	0.014581	0.34790	T	0.065	0.18881	0.383	0.40134	0.0297737177859	0.01360	0.5893565244531019	0.58865	0.102169319623	0.11567	.	.	.	.	.	.	-0.300639	0.08600	T	-0.669624	0.07632	T	0.278895500268211	0.24125	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	-3.286	0.14829	T	.	.	0.403	0.59716	A	.;.;.	.;.;.	2.694763	0.35184	19.83	0.76654625307924973	0.11555	0.30125	0.24001	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.922000	0.39675	-0.587000	0.08344	0.596000	0.33519	0.989000	0.36753	0.000000	0.08366	0.084000	0.17470	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	1542.46	537	chrX	55146088	.	G	T	1542.46	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.180e-01;DP=11450;ExcessHet=0.1072;FS=0.827;InbreedingCoeff=-0.0587;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=1.09;ReadPosRankSum=-3.310e-01;SOR=0.816	GT:AD:DP:GQ:PL	0/0:487,0:487:99:0,120,1800	19	0	2	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X	.	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	0.974	N	.	.	.	.	.	.	.	.	.	2.938	15.79	0.637	0.126	1.026	4.504	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.6429	358994.42	659	chrX	55146104	.	G	A	358994.42	.	AC=27;AF=0.643;AN=42;BaseQRankSum=0.384;DP=14798;ExcessHet=17.4423;FS=0.000;InbreedingCoeff=-0.5620;MLEAC=27;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=25.13;ReadPosRankSum=0.159;SOR=0.675	GT:AD:DP:GQ:PL	1/1:70,624:694:59:17279,59,0	0	6	15	0
chrX	55146139	55146139	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C296T:p.T99I	.	.	392	597	530	3	0	536	0.309827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	0	N	1.2	T	-0.995	T	0.031	T	0.047	-0.165	3.194	-3.2	-1.373	-0.117	6.324	0.027	0.00183666452811	.	.	1.173e-05	0	0	0	0	2.144e-05	0	0	0.0003842	10	26028	rs111573608	0	2.735e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.719e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.2	0.37405	T	1.24	0.01024	N	0.218	0.30461	-0.9951	0.31272	T	0.031	0.13330	T	9	0.02422443	0.00659	T	0.001837	0.03193	T	0.027	0.05988	.	.	0.107399877778	0.10242	0.2636019881297539	0.26273	0.0855686498455	0.09666	.	.	.	.	.	.	-0.525263	0.00410	T	-0.99228	0.00154	T	0.0269564041948217	0.01537	T	0.618838	0.26722	T	.	.	.	.	.	.	.	.	-2.987	0.10042	T	.	.	0.077	0.10159	B	.;.;.	.;.;.	-0.509590	0.01836	0.146	0.55558757236298129	0.05367	0.01261	0.04425	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999998720991634	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-3.2	0.04838	0.118000	0.15436	-7.508000	0.01142	-0.947000	0.02050	0.987000	0.36337	0.000000	0.08366	0.919000	0.45453	0.5556:0.0:0.4444:0.0	6.324	0.20437	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3824	41642.18	636	chrX	55146139	.	G	A	41642.18	.	AC=13;AF=0.382;AN=34;BaseQRankSum=0.241;DP=14777;ExcessHet=12.7758;FS=1.317;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.441;MQ=60.00;MQRankSum=0.00;QD=4.35;ReadPosRankSum=0.564;SOR=0.591	GT:AD:DP:GQ:PL	0/0:677,0:677:99:0,120,1800	4	0	13	4
chrX	55146173	55146173	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C262T:p.P88S	.	.	395	510	614	3	0	620	0.378049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.137	B	0.013	B	.	.	1.000	N	0	N	1.03	T	-1.045	T	0.046	T	0.044	2.192	13.29	0.635	0.130	1.087	4.527	0.021	0.00397070644289	.	.	0	0	0	0	0	0	0	0	0.0018057	47	26028	rs113745415	0	9.135e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.72e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.1	0.44029	T	0.019	0.59159	D	0.137	0.27402	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	1.03	0.40469	T	-0.15	0.09297	N	0.133	0.30461	-1.0449	0.15854	T	0.046	0.19680	T	9	0.10664967	0.19773	T	0.003971	0.09400	T	0.021	0.04004	.	.	0.0986583533028	0.09354	0.17703511721202211	0.17622	0.085900391515	0.09707	.	.	.	.	.	.	-0.47977	0.00741	T	-0.926933	0.00345	T	0.15306082367897	0.17345	T	0.714029	0.35027	T	.	.	.	.	.	.	.	.	-2.918	0.09324	T	.	.	0.099	0.18247	B	.;.;.	.;.;.	1.416818	0.18331	13.68	0.99268186498303135	0.57457	0.22113	0.21636	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986653019121	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.635	0.16895	0.918000	0.28299	0.017000	0.13531	0.596000	0.33519	0.999000	0.42656	0.000000	0.08366	0.033000	0.13494	0.0:0.0:0.6213:0.3787	4.527	0.11390	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	44724.71	464	chrX	55146173	.	G	A	44724.71	.	AC=16;AF=0.400;AN=40;BaseQRankSum=1.44;DP=14192;ExcessHet=22.9655;FS=0.657;InbreedingCoeff=-0.6471;MLEAC=16;MLEAF=0.400;MQ=60.00;MQRankSum=0.00;QD=3.95;ReadPosRankSum=0.470;SOR=0.810	GT:AD:DP:GQ:PL	0/0:677,0:677:99:0,120,1800	4	0	16	1
chrX	55146197	55146197	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166699:exon3:c.C238T:p.Q80X	.	.	397	483	637	5	0	647	0.401116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	0.067	U	1.000	D	.	.	.	.	.	.	.	.	.	1.559	11.17	1.6	1.084	1.600	6.091	.	.	.	.	0.0009	0.0037	0.0002	0.0034	0.0004	0.0003	0	0.0012	0.0033426	87	26028	rs113263757	2.052e-05	0.0007	3.012e-05	0	0.0002	1.343e-05	1.147e-05	5.37e-05	3.17e-05	0.0002	0	0	0.0001	0	0	1.458e-05	4.432e-05	1.939e-05	0	5.238e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.066869	0.21780	U	0.325359	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.281	0.36359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166988	0.70845	D	0.00208969	0.70471	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;Tolerant;.;.	High;.;High;.;.	5.479427	0.91365	32	0.96222129513840093	0.29091	0.25851	0.22822	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.881000	0.39273	1.530000	0.27153	0.596000	0.33519	0.820000	0.29989	0.004000	0.18990	0.022000	0.11911	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4048	41330.81	464	chrX	55146197	.	G	A	41330.81	.	AC=17;AF=0.405;AN=42;BaseQRankSum=1.21;DP=12738;ExcessHet=25.1139;FS=0.664;InbreedingCoeff=-0.6768;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=4.19;ReadPosRankSum=-3.990e-01;SOR=0.814	GT:AD:DP:GQ:PL	0/0:677,0:677:99:0,120,1800	4	0	17	0
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N	.	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.003	B	0.001	B	0.171	N	1.000	P	-0.345	N	1.04	T	-1.045	T	0.035	T	0.025	-1.501	0.017	-1.04	-0.355	-0.019	4.225	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5238	279484.49	466	chrX	55146212	.	C	T	279484.49	.	AC=22;AF=0.524;AN=42;BaseQRankSum=2.82;DP=11864;ExcessHet=43.6797;FS=1.429;InbreedingCoeff=-0.9104;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=25.15;ReadPosRankSum=1.65;SOR=0.530	GT:AD:DP:GQ:PL	0/1:69,558:676:99:15816,0,141	0	1	20	0
chrX	55146214	55146214	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C221T:p.P74L	.	.	380	1100	41	1	0	43	0.0191708	.	.	2333934	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.38	T	0.945	P	0.967	D	0.873	N	1.000	N	0.55	N	1.07	T	-1.000	T	0.112	T	0.102	0.659	7.533	-0.4	-0.233	0.318	1.897	0.035	0.00876998388438	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866839768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.13789	T	0.12	0.67890	T	0.945	0.53279	P	0.851	0.71530	P	0.873191	0.07189	N	1.077440	1	0.08975	N	1.04	0.26193	L	1.07	0.39586	T	-0.45	0.14782	N	0.139	0.13769	-0.9995	0.30058	T	0.112	0.40029	T	10	0.054038584	0.05690	T	0.00877	0.23147	T	0.035	0.08770	0.339	0.32979	0.0920862733494	0.08535	0.15662812420360386	0.15583	0.455486312176	0.45221	0.226637601852	0.01728	T	0.01433	0.12223	T	-0.410012	0.01987	T	-0.826731	0.01321	T	0.0581960721379313	0.06881	T	0.710329	0.32115	T	0.04068161	0.05853	0.05239224	0.08621	0.04068161	0.05853	0.05239224	0.08621	-2.044	0.03351	T	.	.	0.102	0.18122	B	.;.;.;.;.	.;.;.;.;.	0.045960	0.04608	1.277	0.77836609989061178	0.12043	0.01031	0.03865	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999987030541589	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.4	0.11793	0.840000	0.27253	-1.999000	0.04367	0.596000	0.33519	0.027000	0.20232	0.000000	0.08366	0.112000	0.18829	0.2252:0.0:0.4531:0.3218	1.897	0.03062	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1072.99	399	chrX	55146214	.	G	A	1072.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.07;DP=9399;ExcessHet=0.0000;FS=7.631;InbreedingCoeff=-0.0252;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.34;ReadPosRankSum=-1.912e+00;SOR=1.371	GT:AD:DP:GQ:PL	0/0:635,0:635:99:0,120,1800	20	0	1	0
chrX	55146226	55146226	A	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.T209C:p.I70T	.	.	377	953	191	1	0	193	0.0919485	.	.	2292730	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.42	T	0.393	B	0.677	P	0.039	N	1.000	N	0.6	N	0.95	T	-0.952	T	0.090	T	0.133	0.679	7.632	-0.877	-0.346	-0.374	4.189	0.021	0.00406903138937	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs5018687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.10378	T	0.268	0.22694	T	0.393	0.34680	B	0.291	0.53365	B	0.039374	0.24178	N	0.273281	1	0.08975	N	0.64	0.16041	N	0.95	0.43279	T	-0.72	0.25332	N	0.2	0.23506	-0.9521	0.40608	T	0.090	0.34463	T	10	0.055033892	0.05951	T	0.004069	0.09712	T	0.021	0.04004	.	.	0.141422826196	0.13715	0.06275098226723172	0.06214	0.248494845932	0.27412	0.330263495445	0.14974	T	0.020098	0.15887	T	-0.449697	0.01134	T	-0.883735	0.00624	T	0.0690480346428045	0.08518	T	0.637636	0.25136	T	0.03846359	0.05127	0.06403163	0.12771	0.03846359	0.05127	0.06403163	0.12771	-2.966	0.10052	T	.	.	0.086	0.10787	B	.;.;.;.;.	.;.;.;.;.	-0.138938	0.03417	0.621	0.94453687128581543	0.24887	0.00870	0.03447	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988350960953	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.877	0.10083	-0.230000	0.09093	-3.501000	0.02739	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.713000	0.34548	0.5262:0.0:0.4738:0.0	4.189	0.09871	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.119	1891.57	399	chrX	55146226	.	A	G	1891.57	.	AC=5;AF=0.119;AN=42;BaseQRankSum=0.994;DP=9340;ExcessHet=1.1607;FS=0.843;InbreedingCoeff=-0.1278;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.94;ReadPosRankSum=-9.600e-02;SOR=0.789	GT:AD:DP:GQ:PL	0/0:635,0:635:99:0,120,1800	16	0	5	0
chrX	55146242	55146242	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G193A:p.G65S	.	.	381	695	446	0	0	446	0.242919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.988	D	0.986	D	0.181	N	1.000	N	-0.08	N	1.06	T	-1.010	T	0.074	T	0.096	-0.199	3.032	0.436	0.049	0.532	2.954	0.094	0.00575512673883	.	.	1.14e-05	0	0	0	0	0	0	9.881e-05	0.0002199	34	154602	rs751109928	9.107e-07	9.105e-07	1.361e-06	0	1.847e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.08685	T	0.847	0.04029	T	0.988	0.62325	D	0.931	0.76916	D	0.181380	0.17093	N	0.523101	1	0.08975	N	-0.405	0.02972	N	1.06	0.39781	T	0.88	0.01688	N	0.111	0.10340	-1.0096	0.27043	T	0.074	0.29897	T	10	0.024912208	0.00703	T	0.005755	0.14922	T	0.094	0.27141	0.117	0.02508	0.124217242631	0.12060	0.06545832632961472	0.06484	0.113139730866	0.12771	0.240586742759	0.02843	T	0.003551	0.02960	T	-0.539992	0.00335	T	-0.863145	0.00810	T	0.0237543456519899	0.01114	T	0.722728	0.37993	T	0.05084061	0.09248	0.06469397	0.13002	0.05084061	0.09248	0.06469397	0.13002	-2.72	0.09386	T	.	.	0.081	0.08176	B	.;.;.;.;.	.;.;.;.;.	0.646134	0.10147	6.889	0.73921017372164155	0.10504	0.01488	0.04944	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986279423699	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.436	0.15762	0.673000	0.24883	0.315000	0.17124	-0.343000	0.05659	0.980000	0.35271	0.000000	0.08366	0.977000	0.56843	0.0:0.3059:0.0:0.6941	2.954	0.05513	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1905	12630.32	397	chrX	55146242	.	C	T	12630.32	.	AC=8;AF=0.190;AN=42;BaseQRankSum=0.806;DP=9077;ExcessHet=3.5521;FS=0.686;InbreedingCoeff=-0.2394;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=3.42;ReadPosRankSum=0.420;SOR=0.625	GT:AD:DP:GQ:PL	0/1:441,186:627:99:4211,0,12721	13	0	8	0
chrX	55146247	55146247	G	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C188G:p.P63R	.	.	398	590	530	4	0	538	0.313155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.991	D	0.182	U	1.000	N	1.385	L	0.49	T	-0.956	T	0.213	T	0.424	2.149	13.14	1.6	1.084	1.915	6.091	0.133	0.0130273709953	.	.	.	.	.	.	.	.	.	.	0.0032657	85	26028	rs111638770	9.115e-07	9.107e-07	1.361e-06	0	1.848e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.848e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.72224	D	0.752	0.77913	P	0.071	0.79672	B	0.181519	0.17089	U	0.482281	1	0.18198	N	1.79	0.46772	L	0.49	0.55775	T	-6.46	0.91956	D	0.329	0.36989	-0.9561	0.39898	T	0.213	0.57334	T	10	0.25765532	0.43183	T	0.013027	0.32109	T	0.133	0.36157	0.439	0.49321	0.176091768786	0.17195	0.15725273701375614	0.15646	0.462644719079	0.45794	0.299729704857	0.10360	T	0.09323	0.39168	T	-0.104812	0.35627	T	-0.388332	0.34746	T	0.953682541847229	0.64085	D	0.80372	0.51656	T	0.38991144	0.60026	0.48550862	0.70220	0.38991144	0.60026	0.48550862	0.70221	-3.385	0.15177	T	.	.	0.146	0.32275	B	.;.;.;.;.	.;.;.;.;.	2.836954	0.37416	20.5	0.99573153193770736	0.72501	0.41324	0.26632	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	2.239000	0.42728	2.405000	0.32612	0.596000	0.33519	0.999000	0.42656	0.987000	0.30940	0.973000	0.55318	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.381	30065.86	352	chrX	55146247	.	G	C	30065.86	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-1.033e+00;DP=8964;ExcessHet=20.9642;FS=0.691;InbreedingCoeff=-0.6153;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=4.83;ReadPosRankSum=-4.230e-01;SOR=0.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:599,0:599:99:.:.:0,120,1800	5	0	16	0
chrX	55146252	55146252	-	T	exonic	FAM104B	.	frameshift insertion	FAM104B:NM_001166699:exon3:c.182_183insA:p.S61Rfs*13	.	.	390	569	526	3	34	566	0.318563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	29505.39	352	chrX	55146252	.	A	AT,G	29505.39	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=1.83;DP=8656;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6799;MLEAC=16,1;MLEAF=0.381,0.024;MQ=60.00;MQRankSum=0.00;QD=4.46;ReadPosRankSum=-5.690e-01;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:549,0,48:597:99:0|1:55146252_A_G:343,1995,24944,0,22949,22804:55146252	4	0	16	0
chrX	55146253	55146253	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G182A:p.S61N	.	.	398	1075	49	0	0	49	0.0222829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.001	B	0.002	B	0.023	U	1.000	N	1.445	L	0.64	T	-1.045	T	0.080	T	0.04	0.968	8.949	-0.424	-0.249	0.384	2.107	0.041	0.00375800155316	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796781627	9.141e-07	4.651e-05	0	2.78e-06	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.233	0.24913	T	0.001	0.07471	B	0.0	0.06944	B	0.022656	0.26593	U	0.266251	1	0.08975	N	1.815	0.47718	L	0.64	0.52867	T	-2.07	0.47683	N	0.153	0.18376	-1.0454	0.15709	T	0.080	0.31735	T	10	0.07770535	0.12295	T	0.003758	0.08744	T	0.041	0.10877	.	.	0.126345400529	0.12197	0.07456603407950949	0.07392	0.0746427827131	0.08380	0.323804676533	0.13997	T	0.041417	0.25850	T	-0.448251	0.01157	T	-0.881658	0.00640	T	0.0814143712671938	0.10167	T	0.563244	0.23804	T	0.14250806	0.32793	0.13756388	0.32877	0.14250806	0.32793	0.13756388	0.32876	-4.0	0.25024	T	.	.	0.101	0.17573	B	.;.;.;.;.	.;.;.;.;.	0.610047	0.09786	6.551	0.835189348405867	0.14770	0.01305	0.04528	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999987152038444	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.424	0.11707	0.620000	0.24097	-5.444000	0.01716	-0.286000	0.06345	0.004000	0.16614	0.000000	0.08366	0.930000	0.46718	0.3337:0.4521:0.0:0.2142	2.107	0.03469	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	332.02	352	chrX	55146253	.	C	T	332.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.917;DP=8054;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.56;ReadPosRankSum=-2.068e+00;SOR=0.820	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:548,48:596:99:0|1:55146252_A_G:346,0,22765:55146252	20	0	1	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G	.	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.18	B	0.062	B	0.023	N	1.000	N	1.445	L	0.62	T	-1.046	T	0.083	T	0.07	1.063	9.342	-0.917	-0.353	0.231	4.198	0.075	0.0041360361776	.	.	0	0	0	0	0	0	0	0	0.0095666	249	26028	rs1047037	9.142e-07	4.651e-05	1.362e-06	0	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.115	0.36630	T	0.18	0.29046	B	0.013	0.26930	B	0.022656	0.26593	N	0.266251	1	0.08975	N	1.125	0.28843	L	0.62	0.53302	T	-3.25	0.65972	D	0.165	0.17691	-1.0460	0.15534	T	0.083	0.32556	T	10	0.08577216	0.14513	T	0.004136	0.09900	T	0.075	0.21907	0.066	0.00312	0.141422826196	0.13715	0.08695167493373998	0.08629	0.0811463258042	0.09130	0.299347400665	0.10303	T	0.051814	0.28986	T	-0.403148	0.02207	T	-0.816871	0.01517	T	0.062755441338216	0.07595	T	0.529347	0.19916	T	0.15294263	0.34692	0.18436645	0.41484	0.15294263	0.34692	0.18436645	0.41484	-4.147	0.26024	T	.	.	0.074	0.04932	B	.;.;.;.;.	.;.;.;.;.	0.505601	0.08746	5.521	0.88816084291515585	0.18278	0.01111	0.04064	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999988486351367	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.917	0.09952	0.342000	0.19669	0.018000	0.13546	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.925000	0.46118	0.0:0.4736:0.0:0.5264	4.198	0.09911	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5238	144900.84	345	chrX	55146254	.	T	C	144900.84	.	AC=22;AF=0.524;AN=42;BaseQRankSum=-1.022e+00;DP=8618;ExcessHet=43.6797;FS=5.118;InbreedingCoeff=-0.9301;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=18.14;ReadPosRankSum=-9.060e-01;SOR=0.494	GT:AD:DP:GQ:PL	1/1:53,535:588:5:16114,5,0	0	1	20	0
chrX	55146256	55146256	G	-	exonic	FAM104B	.	frameshift deletion	FAM104B:NM_001166699:exon3:c.179delC:p.A60Efs*8	.	.	387	620	513	2	0	517	0.294252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	27841.82	280	chrX	55146255	.	TG	T	27841.82	.	AC=16;AF=0.381;AN=42;BaseQRankSum=0.845;DP=7945;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=4.80;ReadPosRankSum=-9.670e-01;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:502,0:502:99:.:.:0,120,1800	5	0	16	0
chrX	55146256	55146256	G	0	exonic	FAM104B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	408.28	280	chrX	55146256	.	G	*,T	408.28	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=-7.340e-01;DP=7936;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=15,1;MLEAF=0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=0.07;ReadPosRankSum=-1.616e+00;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:502,0,0:502:99:.:.:0,120,1800,120,1800,1800	5	0	15	0
chrX	55146256	55146256	G	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C179A:p.A60E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.712	P	0.402	B	0.061	U	1.000	N	1.04	L	0.84	T	-1.050	T	0.077	T	0.217	0.319	5.727	-0.582	-0.288	-0.780	2.532	0.029	0.00436554593426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.28271	T	0.012	0.63918	D	0.712	0.42110	P	0.116	0.44547	B	0.061012	0.22205	U	0.310110	1	0.08975	N	1.295	0.32453	L	0.84	0.47477	T	-2.3	0.51157	N	0.257	0.29313	-1.0498	0.14453	T	0.077	0.30828	T	10	0.053805858	0.05630	T	0.004366	0.10624	T	0.029	0.06676	0.355	0.35571	0.156986980423	0.15292	0.24595024861261647	0.24509	0.191270352614	0.21451	0.305318623781	0.11200	T	0.047192	0.27649	T	-0.370384	0.03574	T	-0.769807	0.02774	T	0.165286540985107	0.18253	T	0.779322	0.41328	T	0.17303388	0.38027	0.2548788	0.51160	0.17303388	0.38027	0.2548788	0.51160	-2.801	0.10719	T	.	.	0.213	0.44174	B	.;.;.;.;.	.;.;.;.;.	0.380615	0.07526	4.173	0.39602496394885089	0.02743	0.01150	0.04159	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999987547343258	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.582	0.11122	-0.412000	0.07197	-3.618000	0.02653	-0.220000	0.07995	0.000000	0.06391	0.000000	0.08366	0.900000	0.43643	0.2511:0.3045:0.4444:0.0	2.532	0.04420	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.381	408.28	280	chrX	55146256	.	G	*,T	408.28	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=-7.340e-01;DP=7936;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=15,1;MLEAF=0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=0.07;ReadPosRankSum=-1.616e+00;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:502,0,0:502:99:.:.:0,120,1800,120,1800,1800	5	0	15	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L	.	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.127	B	0.271	B	0.153	U	1.000	N	1.495	L	0.27	T	-0.863	T	0.155	T	0.217	0.481	6.608	-1.26	-0.432	0.511	4.529	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5238	145728.82	278	chrX	55146275	.	T	G	145728.82	.	AC=22;AF=0.524;AN=42;BaseQRankSum=-5.160e-01;DP=6743;ExcessHet=43.6797;FS=12.602;InbreedingCoeff=-0.9267;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=23.59;ReadPosRankSum=-3.687e+00;SOR=0.530	GT:AD:DP:GQ:PL	0/1:53,443:496:99:13724,0,148	0	1	20	0
chrX	55146283	55146283	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G152A:p.S51N	.	.	397	623	499	3	0	505	0.288407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.97	D	0.76	P	0.060	U	1.000	N	1.04	L	0.58	T	-0.992	T	0.137	T	0.108	1.384	10.56	0.279	-0.048	0.205	4.875	0.056	0.0110921071969	.	.	.	.	.	.	.	.	.	.	0.0152528	397	26028	rs5018688	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.59928	D	0.093	0.43913	T	0.393	0.56973	B	0.383	0.56425	B	0.059846	0.22293	U	0.378995	1	0.08975	N	1.89	0.50145	L	0.58	0.54149	T	-1.28	0.38924	N	0.403	0.45237	-0.9915	0.32218	T	0.137	0.45260	T	10	0.1055212	0.19508	T	0.011092	0.28353	T	0.056	0.15993	0.195	0.10705	0.117506650769	0.11410	0.13308873038305813	0.13232	0.421847818605	0.42694	0.421121031046	0.27990	T	0.02108	0.16480	T	-0.332179	0.05948	T	-0.714929	0.05044	T	0.244155928492546	0.22609	T	0.533147	0.22079	T	0.27807146	0.50863	0.22633299	0.47608	0.27807146	0.50863	0.22633299	0.47607	-4.287	0.28968	T	.	.	0.120	0.24733	B	.;.;.;.;.	.;.;.;.;.	0.299513	0.06751	3.267	0.94323433060273598	0.24650	0.08620	0.14524	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986223079379	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.279	0.14929	0.332000	0.19494	-0.521000	0.08690	0.530000	0.24713	0.996000	0.39380	0.000000	0.08366	0.128000	0.19490	0.5333:0.4667:0.0:0.0	4.875	0.13009	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.375	15609.31	256	chrX	55146283	.	C	T	15609.31	.	AC=15;AF=0.375;AN=40;BaseQRankSum=-6.090e-01;DP=5771;ExcessHet=17.4423;FS=2.201;InbreedingCoeff=-0.6051;MLEAC=16;MLEAF=0.400;MQ=60.00;MQRankSum=0.00;QD=3.81;ReadPosRankSum=-1.177e+00;SOR=0.788	GT:AD:DP:GQ:PL	0/1:376,80:456:99:1299,0,11561	5	0	15	1
chrX	57592664	57592664	G	A	exonic	ZXDB	.	nonsynonymous SNV	ZXDB:NM_007157:exon1:c.G616A:p.G206R,	.	.	432	1055	35	0	0	35	0.016317	.	.	3351554	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.53	T	0.001	B	0.001	B	0.012	N	1.000	N	0.205	N	2.81	T	-0.949	T	0.012	T	0.133	-2.655	0	1.78	0.520	-0.287	4.304	0.014	0.00644329845832	.	.	0.0014	0.0004	0.0013	0.0024	0.0011	0.0014	0.0062	0.0020	0.0001921	5	26028	rs747364155	0.0006	0.0018	0.0006	0.0006	0.0015	0.0006	0.0006	0.0011	0.0010	0.0004	0.0015	0.0046	0.0011	0.0002	0.0015	0.0005	0.0008	0.0011	0.0004	0.0017	0.0004	0.0004	0.0022	0.0003	0.0003	0.0010	0.0007	9.791e-05	0.0015	0	0.0037	0.0022	0.0003	0	0.0004	0.0007	0	0.47	0.08483	T	0.187	0.28764	T	0.001	0.07471	B	0.001	0.04355	B	0.011697	0.29437	N	0.160870	1	0.08975	N	0.69	0.16971	N	2.81	0.10975	T	-0.91	0.24460	N	0.028	0.00618	-0.9489	0.41160	T	0.012	0.04700	T	10	0.012963623	0.00276	T	0.006443	0.16956	T	0.014	0.01968	0.256	0.19689	0.043077524339	0.03247	0.18998404845993977	0.18916	1.24468813859	0.81636	0.759609699249	0.75871	T	0.028547	0.20653	T	-0.531361	0.00377	T	-1.00104	0.00137	T	0.00039367558201775	0.00003	T	0.377662	0.09049	T	0.067176715	0.14523	0.076588094	0.16976	0.067176715	0.14523	0.076588094	0.16976	-5.085	0.37748	T	.	.	0.108	0.20430	B	.	.	0.033570	0.04519	1.218	0.79293539811230451	0.12676	0.03073	0.07985	N	ALL	.	.	.	.	.	.	.	.	.	0.999999745769581	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.65	1.78	0.23918	-0.187000	0.09652	-1.834000	0.04642	-0.288000	0.06323	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.3435:0.0:0.6565:0.0	4.304	0.10382	434	0.80536	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	144.98	50	chrX	57592664	.	G	A	144.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.62;DP=1050;ExcessHet=0.0000;FS=20.829;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.79;MQRankSum=-6.986e+00;QD=1.28;ReadPosRankSum=-3.813e+00;SOR=4.073	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1076	20	0	1	0
chrX	57594011	57594011	T	A	exonic	ZXDB	.	nonsynonymous SNV	ZXDB:NM_007157:exon1:c.T1963A:p.S655T,	.	.	461	1006	39	16	0	71	0.0340855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.982	D	0.952	D	0.001	D	0.645	D	1.63	L	2.89	T	-1.018	T	0.056	T	0.212	0.219	5.180	3.77	1.520	1.474	9.871	0.068	.	.	0.00476821	0.0102	0.0005	0.0021	0	0.0026	0.0124	0.0074	0.0266	0.000414	64	154602	rs200727091	0.0080	0.0079	0.0076	0.0088	0.0217	0.0078	0.0078	0.0179	0.0175	0.0012	0.0022	0.0024	3.422e-05	0.0024	0.0217	0.0084	0.0071	0.0189	0.0054	0.0055	0.0056	0.0045	0.0154	0.0050	0.0048	0.0110	0.0095	0.0009	0	0.0033	0.0020	0	0.0023	0.0051	0.0087	0.0056	0.0154	0.072	0.34982	T	0.259	0.23097	T	0.982	0.60036	D	0.952	0.69102	D	0.000935	0.41028	D	0.214546	0.645411	0.32914	D	2.69	0.78713	M	2.89	0.10196	T	-1.29	0.32387	N	0.057	0.02861	-1.0177	0.24463	T	0.056	0.23450	T	10	0.003385067	0.00059	T	.	.	.	0.068	0.19811	.	.	0.271610670623	0.26767	0.13645945271760762	0.13569	1.06917988701	0.76748	0.664134502411	0.62000	T	0.015966	0.13288	T	-0.689409	0.00042	T	-0.750091	0.03482	T	0.0196635630188806	0.00669	T	0.638236	0.25169	T	0.16438235	0.36641	0.20183867	0.44182	0.16438235	0.36641	0.20183867	0.44181	-3.943	0.22948	T	.	.	0.070	0.03552	B	.	.	1.238939	0.16346	12.48	0.96316169248732064	0.29397	0.43791	0.27176	N	AEFGI	.	.	.	.	.	.	.	.	.	0.999977116689479	0.50053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.77	3.77	0.42499	0.791000	0.26577	0.064000	0.14171	0.605000	0.46263	0.664000	0.28295	0.001000	0.17328	0.330000	0.25202	0.0:0.0:0.0:1.0	9.871	0.40341	434	0.80536	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1737.12	54	chrX	57594011	.	T	A	1737.12	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.724e+00;DP=743;ExcessHet=0.1072;FS=1.636;InbreedingCoeff=-0.0504;MLEAC=2;MLEAF=0.048;MQ=30.21;MQRankSum=0.103;QD=15.94;ReadPosRankSum=1.45;SOR=0.495	GT:AD:DP:GQ:PL	0/0:32,0:32:84:0,84,1260	19	0	2	0
chrX	57909651	57909651	A	G	exonic	ZXDA	.	nonsynonymous SNV	ZXDA:NM_007156:exon1:c.T770C:p.L257P,	.	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.581	N	1.000	N	-0.695	N	2.81	T	-0.944	T	0.011	T	0.079	-3.668	0.001	0.473	-0.011	0.538	4.723	0.036	.	0.0010	0.0018543	0.0026	0.0079	0.0105	0.0007	0	0.0009	0.0042	0.0011	0.0012742	197	154602	rs200263524	0.0009	0.0011	0.0009	0.0010	0.0113	0.0009	0.0009	0.0084	0.0073	0.0040	0.0066	0.0003	0.0006	0.0001	0.0113	0.0006	0.0020	0.0010	0.0018	0.0020	0.0019	0.0016	0.0049	0.0016	0.0015	0.0038	0.0034	0.0030	0	0.0049	0.0008	0.0003	0.0002	0.0186	0.0007	0.0071	0.0014	0.877	0.02562	T	0.64	0.06970	T	0.0	0.02946	B	0.0	0.01387	B	0.580562	0.05533	N	1.262150	1	0.08975	N	-1.87	0.00254	N	2.81	0.10975	T	1.59	0.00660	N	0.017	0.00226	-0.9440	0.41976	T	0.011	0.03996	T	9	0.0033509433	0.00058	T	.	.	.	0.036	0.09122	.	.	0.321951552304	0.31805	0.5258748924103505	0.52511	1.00905915386	0.74685	0.79422557354	0.81086	T	0.016321	0.13515	T	-0.909297	0.00000	T	-1.07589	0.00043	T	0.00202776234182484	0.00021	T	0.0939906	0.00699	T	0.051167745	0.09357	0.09374219	0.22157	0.051167745	0.09357	0.09374219	0.22157	-2.215	0.04113	T	.	.	0.043	0.00032	B	.	.	0.159345	0.05500	1.966	0.2283293605259448	0.00937	0.04011	0.09439	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.99998644620806	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.35	0.473	0.15974	-0.120000	0.10633	0.960000	0.22984	-2.526000	0.00255	0.000000	0.06391	0.508000	0.25241	0.000000	0.00833	0.1161:0.0:0.3318:0.5521	4.723	0.12305	434	0.80536	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	439.98	33	chrX	57909651	.	A	G	439.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.214e+00;DP=703;ExcessHet=0.0000;FS=2.427;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.80;ReadPosRankSum=-1.486e+00;SOR=0.418	GT:AD:DP:GQ:PL	0/0:24,0:24:72:0,72,737	20	0	1	0
chrX	57910186	57910186	G	C	exonic	ZXDA	.	nonsynonymous SNV	ZXDA:NM_007156:exon1:c.C235G:p.H79D,	.	.	427	1093	1	1	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.792	N	1.000	N	-1.245	N	2.18	T	-0.965	T	0.012	T	0.067	-3.049	0.001	0.144	-0.084	0.024	0.469	0.041	0.000667446444109	0.0001	0.00238411	0.0012	0.0017	0.0022	0.0013	0	0.0007	0.0024	0.0028	0.0010026	155	154602	rs151072020	0.0010	0.0011	0.0010	0.0011	0.0029	0.0010	0.0010	0.0025	0.0024	0.0020	0.0019	5.212e-05	0.0003	2.761e-05	0.0028	0.0009	0.0014	0.0029	0.0008	0.0009	0.0009	0.0008	0.0022	0.0007	0.0006	0.0013	0.0011	0.0016	0	0.0010	0	0.0003	0	0	0.0004	0.0013	0.0022	1.0	0.00964	T	0.66	0.06511	T	0.0	0.02946	B	0.0	0.01387	B	0.791822	0.09391	N	0.883731	1	0.08975	N	-2.24	0.00112	N	2.18	0.18875	T	0.62	0.02442	N	0.028	0.00618	-0.9647	0.38270	T	0.012	0.04653	T	9	0.0042077005	0.00084	T	6.67E-4	0.00383	T	0.041	0.10877	.	.	0.408172294925	0.40431	0.07234410521092363	0.07171	0.864492229153	0.69148	0.849402487278	0.89524	D	0.003572	0.02980	T	-0.896413	0.00000	T	-1.06596	0.00051	T	0.00734522265928516	0.00084	T	0.175982	0.01702	T	0.043308835	0.06725	0.061772823	0.11982	0.043308835	0.06725	0.061772823	0.11982	-2.674	0.07087	T	.	.	0.052	0.00207	B	.	.	-0.412555	0.02166	0.211	0.46594618899068529	0.03744	0.00665	0.02874	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999999744830833	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.97	0.144	0.14120	-0.238000	0.08995	-0.221000	0.10763	-1.123000	0.01469	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1995:0.3486:0.1943:0.2576	0.469	0.00493	434	0.80536	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2997.98	36	chrX	57910186	.	G	C	2997.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.330e-01;DP=971;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.66;MQRankSum=-4.331e+00;QD=17.64;ReadPosRankSum=-4.920e-01;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1073	20	0	1	0
chrX	57910189	57910189	G	T	exonic	ZXDA	.	nonsynonymous SNV	ZXDA:NM_007156:exon1:c.C232A:p.P78T,	.	.	428	1092	1	1	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	B	0.055	B	0.716	N	1.000	N	1.1	L	2.31	T	-0.982	T	0.030	T	0.148	-0.019	3.918	1.16	0.186	0.126	6.466	0.006	0.00308391317375	0.0003	0.00238411	0.0012	0.0018	0.0022	0.0011	0	0.0006	0.0024	0.0028	0.001022	158	154602	rs139794208	0.0010	0.0011	0.0010	0.0011	0.0029	0.0010	0.0010	0.0025	0.0024	0.0021	0.0018	5.216e-05	0.0003	2.776e-05	0.0028	0.0009	0.0014	0.0029	0.0008	0.0009	0.0009	0.0008	0.0022	0.0007	0.0007	0.0013	0.0012	0.0016	0	0.0011	0	0	0	0	0.0004	0.0020	0.0022	0.086	0.32610	T	0.182	0.29249	T	0.19	0.29379	B	0.055	0.25995	B	0.716006	0.09975	N	0.841168	1	0.08975	N	2.075	0.57047	M	2.31	0.16794	T	-0.36	0.13035	N	0.017	0.00226	-0.9820	0.34538	T	0.030	0.12717	T	9	0.0031093955	0.00052	T	0.003084	0.06666	T	0.006	0.00375	.	.	0.561599553422	0.55821	0.08546850697997276	0.08480	0.757983570904	0.64101	0.8126937747	0.83906	D	0.00372	0.03130	T	-0.746521	0.00019	T	-0.85065	0.00951	T	0.00332402600560495	0.00035	T	0.368163	0.08622	T	0.050990686	0.09298	0.07404347	0.16156	0.050990686	0.09297	0.07404347	0.16156	-4.84	0.35053	T	.	.	0.079	0.07412	B	.	.	1.433961	0.18528	13.78	0.87425387332635029	0.17218	0.04348	0.09914	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999999814692377	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.97	1.16	0.19936	0.344000	0.19703	1.429000	0.26431	0.554000	0.28208	0.015000	0.19116	0.921000	0.28324	0.034000	0.13613	0.2747:0.0:0.7253:0.0	6.466	0.21184	434	0.80536	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3019.98	36	chrX	57910189	.	G	T	3019.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.880e+00;DP=972;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.70;MQRankSum=-4.458e+00;QD=17.66;ReadPosRankSum=-1.276e+00;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1073	20	0	1	0
chrX	66197877	66197877	G	A	exonic	HEPH	.	nonsynonymous SNV	HEPH:NM_014799:exon9:c.G895A:p.G299S	.	.	1	224	1	0	0	1	0.00222717	.	.	706286	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.77	T	0.006	B	0.004	B	0.357	N	0.953	N	0.84	L	-4.97	D	-0.021	T	0.738	D	0.241	-0.420	2.040	2.9	0.555	1.054	7.447	0.319	.	0.0052	0.00317881	0.0094	0.0011	0.0038	0	0.0484	0.0130	0.0122	0.0003	0.0060284	932	154602	rs35835670	0.0067	0.0067	0.0067	0.0066	0.0066	0.0066	0.0065	0.0065	0.0064	0.0005	0.0025	0.0084	0	0.0293	0.0050	0.0066	0.0055	0.0003	0.0063	0.0064	0.0060	0.0070	0.0079	0.0059	0.0058	0.0073	0.0070	0.0005	0.0058	0.0042	0.0094	0	0.0308	0	0.0079	0.0059	0.0004	0.69	0.04328	T	0.672	0.06265	T	0.006	0.13644	B	0.004	0.10090	B	0.356555	0.13735	N	0.717088	0.952657	0.37794	D	0.915	0.23335	L	-4.97	0.98468	D	0.18	0.05035	N	0.023	0.00407	-0.0207	0.81825	T	0.738	0.91058	D	10	0.0047680736	0.00101	T	.	.	.	0.319	0.64112	.	.	0.819352873408	0.81764	0.6688782993918188	0.66825	0.0825816560043	0.09315	0.379999279976	0.22256	T	0.094516	0.55391	T	-0.280846	0.10577	T	-0.165161	0.57885	T	0.00271096866685238	0.00028	T	0.510449	0.27528	T	0.09365842	0.22001	0.110990584	0.26769	0.09365842	0.22001	0.110990584	0.26769	-4.282	0.27924	T	.	.	0.072	0.07460	B	.;.;.;.;.	.;.;.;.;.	1.819622	0.23120	15.89	0.62966192234405172	0.07099	0.52659	0.29184	D	AEFBI	.	.	.	.	.	.	.	.	.	0.240769355564627	0.18568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.62	2.9	0.32809	1.299000	0.33028	5.054000	0.47025	0.618000	0.50648	0.829000	0.30118	1.000000	0.68203	0.933000	0.47100	0.3501:0.0:0.6499:0.0	7.447	0.26390	709	0.56835	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	904.98	34	chrX	66197877	.	G	A	904.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.947;DP=700;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.60;ReadPosRankSum=-3.060e-01;SOR=0.689	GT:AD:DP:GQ:PL	0/0:21,0:21:60:0,60,712	20	0	1	0
chrX	66266451	66266451	A	G	exonic	HEPH	.	nonsynonymous SNV	HEPH:NM_001367243:exon16:c.A2356G:p.R786G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.113	B	0.04	B	0.535	N	1.000	N	0	N	-5.59	D	0.733	D	0.852	D	0.351	0.014	4.085	0.976	0.226	0.920	3.141	0.385	0.476193431909	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.37536	T	0.342	0.22084	T	0.113	0.26349	B	0.04	0.23831	B	0.535037	0.05280	N	1.277380	1	0.08975	N	1.6	0.40776	L	-5.6	0.99243	D	-0.25	0.23156	N	0.229	0.28028	0.733	0.93583	D	0.852	0.95066	D	10	0.20335755	0.36487	T	0.476193	0.94764	D	0.385	0.70194	0.379	0.39482	0.715838253657	0.71334	0.5571570503578913	0.55642	0.114630433972	0.12926	0.261533021927	0.05074	T	0.092845	0.53179	T	0.115005	0.65868	D	-0.0725801	0.65442	T	0.0409009001301863	0.03854	T	0.627737	0.29211	T	0.08400963	0.19426	0.11256127	0.27161	0.08400963	0.19426	0.11256127	0.27160	-3.239	0.13365	T	.	.	0.063	0.06387	B	.;.;.;.;.	.;.;.;.;.	1.032776	0.14128	10.70	0.89478412191415868	0.18831	0.03387	0.08494	N	AEFBI	.	.	.	.	.	.	.	.	.	1.49475875651209E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.71	0.976	0.18846	1.046000	0.29964	3.906000	0.40380	0.756000	0.94297	0.431000	0.26416	0.972000	0.29809	0.009000	0.08673	0.4885:0.2177:0.2938:0.0	3.141	0.06069	603	0.67726	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1083.98	36	chrX	66266451	.	A	G	1083.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.161e+00;DP=796;ExcessHet=0.0000;FS=1.888;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=0.016;SOR=1.034	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1263	20	0	1	0
chrX	67545334	67545334	-	GCA	exonic	AR	.	nonframeshift insertion	AR:NM_000044:exon1:c.188_189insGCA:p.Q80_E81insQ	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	4/4:0,0,0,0,11,0,0:11:35:495,495,495,495,495,495,495,495,495,495,35,35,35,35,0,495,495,495,495,35,495,495,495,495,495,35,495,495	5	3	1	1
chrX	67545326	67545334	GCAGCAGCA	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.180_188del:p.Q78_Q80del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	4/4:0,0,0,0,11,0,0:11:35:495,495,495,495,495,495,495,495,495,495,35,35,35,35,0,495,495,495,495,35,495,495,495,495,495,35,495,495	5	3	1	1
chrX	67545332	67545334	GCA	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.186_188del:p.Q80del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	4/4:0,0,0,0,11,0,0:11:35:495,495,495,495,495,495,495,495,495,495,35,35,35,35,0,495,495,495,495,35,495,495,495,495,495,35,495,495	5	3	1	1
chrX	67545329	67545334	GCAGCA	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.183_188del:p.Q79_Q80del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	4/4:0,0,0,0,11,0,0:11:35:495,495,495,495,495,495,495,495,495,495,35,35,35,35,0,495,495,495,495,35,495,495,495,495,495,35,495,495	5	3	1	1
chrX	67545334	67545334	-	GCAGCAGCAGCA	exonic	AR	.	nonframeshift insertion	AR:NM_000044:exon1:c.188_189insGCAGCAGCAGCA:p.Q80_E81insQQQQ	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	4/4:0,0,0,0,11,0,0:11:35:495,495,495,495,495,495,495,495,495,495,35,35,35,35,0,495,495,495,495,35,495,495,495,495,495,35,495,495	5	3	1	1
chrX	67546547	67546547	-	GGC	exonic	AR	.	nonframeshift insertion	AR:NM_000044:exon1:c.1401_1402insGGC:p.G473_E474insG	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0,0,0,0,0:34:99:.:.:0,99,1169,99,1169,1169,99,1169,1169,1169,99,1169,1169,1169,1169,99,1169,1169,1169,1169,1169,99,1169,1169,1169,1169,1169,1169	11	3	1	0
chrX	67546536	67546547	GGCGGCGGCGGC	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.1390_1401del:p.G470_G473del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0,0,0,0,0:34:99:.:.:0,99,1169,99,1169,1169,99,1169,1169,1169,99,1169,1169,1169,1169,99,1169,1169,1169,1169,1169,99,1169,1169,1169,1169,1169,1169	11	3	1	0
chrX	67546542	67546547	GGCGGC	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.1396_1401del:p.G472_G473del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0,0,0,0,0:34:99:.:.:0,99,1169,99,1169,1169,99,1169,1169,1169,99,1169,1169,1169,1169,99,1169,1169,1169,1169,1169,99,1169,1169,1169,1169,1169,1169	11	3	1	0
chrX	67546530	67546547	GGCGGCGGCGGCGGCGGC	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.1384_1401del:p.G468_G473del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0,0,0,0,0:34:99:.:.:0,99,1169,99,1169,1169,99,1169,1169,1169,99,1169,1169,1169,1169,99,1169,1169,1169,1169,1169,99,1169,1169,1169,1169,1169,1169	11	3	1	0
chrX	67546547	67546547	-	GGCGGC	exonic	AR	.	nonframeshift insertion	AR:NM_000044:exon1:c.1401_1402insGGCGGC:p.G473_E474insGG	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0,0,0,0,0:34:99:.:.:0,99,1169,99,1169,1169,99,1169,1169,1169,99,1169,1169,1169,1169,99,1169,1169,1169,1169,1169,99,1169,1169,1169,1169,1169,1169	11	3	1	0
chrX	67546515	67546547	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.1369_1401del:p.G463_G473del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	1337344	Androgen_resistance_syndrome|Kennedy_disease|AR-related_disorder	MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429|MONDO:MONDO:0010735,MedGen:C1839259,OMIM:313200,Orphanet:481|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186626054	0.0006	0.0005	0.0005	0.0007	0.0061	0.0005	0.0005	0.0030	0.0022	0.0025	0.0030	0.0014	0.0004	9.153e-05	0.0061	0.0003	0.0017	0.0010	0.0008	0.0006	0.0007	0.0008	0.0022	0.0006	0.0006	0.0014	0.0011	0.0013	0	0.0022	0.0009	0	0	0	0.0003	0.0009	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0,0,0,0,0,0:34:99:.:.:0,99,1169,99,1169,1169,99,1169,1169,1169,99,1169,1169,1169,1169,99,1169,1169,1169,1169,1169,99,1169,1169,1169,1169,1169,1169	11	3	1	0
chrX	69505338	69505338	-	CTG	exonic	FAM155B	.	nonframeshift insertion	FAM155B:NM_015686:exon1:c.56_57insCTG:p.C24_W25insC,	.	.	412	1026	81	1	2	85	0.0388759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1287.01	86	chrX	69505335	.	TCTG	T,TCTGCTG	1287.01	.	AC=6,1;AF=0.143,0.024;AN=42;BaseQRankSum=8.000e-03;DP=1050;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.1975;MLEAC=6,1;MLEAF=0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=2.52;ReadPosRankSum=-1.560e-01;SOR=0.726	GT:AD:DP:GQ:PL	0/0:35,0,0:35:99:0,99,1125,99,1125,1125	14	0	6	0
chrX	70258561	70258561	C	T	exonic	P2RY4	.	nonsynonymous SNV	P2RY4:NM_002565:exon1:c.G1064A:p.S355N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.0	B	0.002	B	0.229	U	1.000	N	0	N	-0.63	T	-1.040	T	0.127	T	0.085	1.883	12.25	2.83	2.169	0.292	6.577	0.115	0.0171567670902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.485	0.08115	T	0.711	0.05506	T	0.0	0.02946	B	0.002	0.06944	B	0.229486	0.15952	U	0.506738	1	0.08975	N	0	0.06538	N	-0.63	0.72011	T	-0.21	0.10308	N	0.135	0.13198	-1.0403	0.17223	T	0.127	0.43339	T	10	0.06975949	0.10056	T	0.017157	0.38744	T	0.115	0.32236	0.164	0.06842	0.786709123045	0.78473	0.15014429427620998	0.14936	0.0818412678812	0.09219	0.279569625854	0.07432	T	0.072621	0.34499	T	-0.331644	0.05988	T	-0.71416	0.05084	T	0.0774389467893177	0.09656	T	0.334967	0.07125	T	0.07613244	0.17199	0.095476925	0.22645	0.07613244	0.17199	0.095476925	0.22644	-5.717	0.43845	T	.	.	0.112	0.21987	B	.	.	0.919012	0.12937	9.446	0.97723463556042411	0.35573	0.03388	0.08496	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.698283359999457	0.22666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.7	2.83	0.32150	0.540000	0.22900	.	.	0.589000	0.31548	0.000000	0.06391	0.001000	0.17328	0.367000	0.26044	0.1813:0.7178:0.0:0.1008	6.577	0.21766	49	0.97662	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1249.98	35	chrX	70258561	.	C	T	1249.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.425;DP=807;ExcessHet=0.0000;FS=1.470;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.42;ReadPosRankSum=1.49;SOR=0.846	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1079	20	0	1	0
chrX	70259192	70259192	G	A	exonic	P2RY4	.	nonsynonymous SNV	P2RY4:NM_002565:exon1:c.C433T:p.R145C,	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.883	P	0.534	P	0.007	U	1.000	N	3.16	M	1.06	T	-0.737	T	0.200	T	0.308	2.608	14.68	4.2	2.087	1.853	10.840	0.137	0.0671892039497	.	.	4.615e-05	0	0.0003	0	0	2.104e-05	0	0	3.88e-05	6	154602	rs779083147	1.457e-05	1.457e-05	1.633e-05	1.101e-05	0.0002	8.63e-06	6.98e-06	9.327e-05	6.58e-05	0	0.0002	0	0	2.474e-05	0	8.313e-06	2.169e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.37750	T	0.075	0.42794	T	0.883	0.48537	P	0.534	0.48679	P	0.006502	0.31983	U	0.225320	0.999972	0.18612	N	1.95	0.52479	M	1.06	0.39781	T	-2.72	0.57920	D	0.08	0.05542	-0.7369	0.58611	T	0.200	0.55598	T	10	0.22726518	0.39602	T	0.067189	0.70095	D	0.137	0.36984	0.627	0.76254	0.71204735072	0.70952	0.38582829178056804	0.38497	0.125945359065	0.14199	0.44898211956	0.31804	T	0.193902	0.54951	T	-0.449655	0.01134	T	-0.587482	0.13884	T	0.260845759680666	0.23351	T	0.929107	0.73907	D	0.21791165	0.44286	0.21885228	0.46603	0.21791165	0.44286	0.21885228	0.46602	-7.821	0.59844	D	.	.	0.192	0.41156	B	.	.	2.600456	0.33751	19.43	0.99877407120082262	0.95410	0.09284	0.15071	N	AEFBI	.	.	.	.	.	.	.	.	.	0.682183300018903	0.22493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.2	4.2	0.48814	1.618000	0.36565	.	.	0.665000	0.62972	0.006000	0.17386	0.004000	0.18990	0.940000	0.48062	0.0:0.0:0.7973:0.2027	10.840	0.45916	49	0.97662	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2634.98	35	chrX	70259192	.	G	A	2634.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.48;DP=916;ExcessHet=0.0000;FS=1.686;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=-3.700e-02;SOR=0.850	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1079	20	0	1	0
chrX	70406349	70406349	C	T	exonic	KIF4A	.	nonsynonymous SNV	KIF4A:NM_012310:exon27:c.C3067T:p.P1023S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.978	D	0.719	P	0.000	D	1.000	D	1.935	M	-0.31	T	-0.365	T	0.352	T	0.547	3.418	17.55	4.53	2.088	5.613	15.434	0.320	0.0792615795202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.349	0.17531	T	0.978	0.58756	D	0.719	0.54822	P	0.000079	0.52346	D	0.000000	1	0.81001	D	2.25	0.63811	M	-0.31	0.68030	T	-3.12	0.63782	D	0.263	0.29774	-0.3650	0.73114	T	0.352	0.71596	T	9	0.36185807	0.52795	T	0.079262	0.73194	D	0.320	0.64215	0.321	0.30064	0.75829552308	0.75610	0.38851705871746006	0.38766	1.0674637903	0.76676	0.442400544882	0.30905	T	0.426084	0.77599	T	-0.00289784	0.51255	T	-0.241939	0.50610	T	0.979637920856476	0.72933	D	0.90211	0.65873	D	0.30787155	0.53601	0.30565557	0.56592	0.30787155	0.53601	0.30565557	0.56591	-4.498	0.30863	T	0.38156102060009467	0.47593	0.270	0.50454	B	.	.	4.195239	0.63268	24.6	0.99883827264187275	0.95970	0.97868	0.77733	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999982577881363	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.53	4.53	0.55009	4.281000	0.58758	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	15.434	0.74855	323	0.86843	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1197.98	34	chrX	70406349	.	C	T	1197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.040e-01;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.01;ReadPosRankSum=-1.280e-01;SOR=0.708	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,103,1173	20	0	1	0
chrX	70554698	70554698	A	G	exonic	TEX11	.	nonsynonymous SNV	TEX11:NM_031276:exon26:c.T2243C:p.V748A	Spermatogenic failure, X-linked, 2, X-linked recessive	.	.	.	.	.	.	.	.	.	.	969227	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.009	B	0.018	B	0.000	D	0.940	N	2.135	M	1.39	T	-0.988	T	0.118	T	0.324	3.026	16.10	2.01	0.189	4.504	6.754	0.112	0.00645112285476	.	.	0.0002	0	0	0	0	0.0004	0	0.0001	0.0001876	29	154602	rs200139216	0.0003	0.0003	0.0003	0.0003	0.0034	0.0002	0.0002	0.0021	0.0016	0.0002	0.0002	0.0016	0	0.0003	0.0034	0.0002	0.0005	0.0004	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	9.204e-05	8.744e-05	6.545e-05	3.238e-05	0	9.5e-05	0.0008	0	0.0003	0.0092	0.0002	0.0013	0	0.013	0.65419	D	0.013	0.63109	D	0.008	0.15093	B	0.018	0.18489	B	0.000188	0.48115	D	0.083191	0.939515	0.26833	N	2.075	0.57047	M	1.38	0.49068	T	-2.27	0.55983	N	0.596	0.66016	-0.9877	0.33175	T	0.118	0.41429	T	9	0.043995053	0.03307	T	0.006451	0.16985	T	0.112	0.31546	.	.	0.304565745084	0.30068	0.29151276273309096	0.29064	0.932667358247	0.71902	0.396021962166	0.24515	T	0.122652	0.44648	T	-0.38861	0.02746	T	-0.516553	0.20644	T	0.0709873985953135	0.08788	T	0.433257	0.12306	T	0.14200735	0.32698	0.1776705	0.40384	0.14200735	0.32698	0.1776705	0.40384	-6.053	0.47890	T	0.2875523398532233	0.38372	0.123	0.31633	B	.;.;.;.	.;.;.;.	3.282945	0.44992	22.0	0.99495111923471058	0.67687	0.79383	0.39326	D	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.0506297204717722	0.14846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.43	2.01	0.25568	4.460000	0.59844	.	.	0.731000	0.85647	0.970000	0.34288	0.999000	0.35428	0.995000	0.73285	0.7924:0.0:0.2076:0.0	6.754	0.22692	64	0.97283	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1981.98	48	chrX	70554698	.	A	G	1981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.640e+00;DP=1032;ExcessHet=0.0000;FS=1.915;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=-1.398e+00;SOR=0.554	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chrX	70744181	70744181	G	A	exonic	TEX11	.	nonsynonymous SNV	TEX11:NM_031276:exon10:c.C731T:p.T244I	Spermatogenic failure, X-linked, 2, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	B	0.046	B	0.730	N	1.000	N	-0.345	N	-0.06	T	-0.999	T	0.090	T	0.031	-0.791	0.701	-3.4	-0.871	-0.093	11.478	0.072	0.0111470266323	.	.	0.0001	0	0	0	0	0.0002	0	0.0001	0.0001294	20	154602	rs762957753	0.0002	0.0002	0.0002	0.0002	0.0028	0.0002	0.0002	0.0015	0.0011	0.0002	4.705e-05	0.0002	0	0.0003	0.0028	0.0002	0.0003	0.0004	0.0001	0.0001	0.0001	6.797e-05	0.0002	7.212e-05	5.643e-05	7.597e-05	5.56e-05	3.406e-05	0	0	0	0	0.0002	0.0100	0.0002	0.0007	0	0.454	0.08891	T	0.452	0.12884	T	0.017	0.18474	B	0.027	0.24676	B	0.730008	0.09863	N	0.871861	1	0.08975	N	-0.345	0.03330	N	-0.06	0.63568	T	-0.76	0.21215	N	0.05	0.02179	-0.9990	0.30199	T	0.090	0.34436	T	9	0.030699372	0.01198	T	0.011147	0.28477	T	0.072	0.21020	.	.	0.0675242888579	0.06100	0.05024994014419871	0.04967	0.337045493056	0.35701	0.50074583292	0.38932	T	0.04434	0.26786	T	-0.637371	0.00086	T	-0.888887	0.00584	T	0.915326237678528	0.57231	D	0.547145	0.18749	T	0.03896558	0.05292	0.070824	0.15094	0.03896558	0.05291	0.070824	0.15093	-1.726	0.02298	T	0.10202183391949064	0.07708	0.084	0.09820	B	.;.;.	.;.;.	0.081301	0.04875	1.462	0.30738287090758126	0.01697	0.00150	0.00907	N	AEFI	.	.	.	.	.	.	.	.	.	1.01716596533098E-5	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.66	-3.4	0.04549	-0.066000	0.11556	.	.	-0.279000	0.06446	0.000000	0.06391	0.000000	0.08366	0.076000	0.17014	0.2274:0.0:0.7726:0.0	11.478	0.49558	19	0.98577	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	490.0	34	chrX	70744181	.	G	A	490.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=489;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0261;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.75;ReadPosRankSum=0.610;SOR=0.798	GT:AD:DP:GQ:PL	0/0:10,0:10:24:0,24,360	20	0	1	0
chrX	70853278	70853278	G	C	exonic	TEX11	.	nonsynonymous SNV	TEX11:NM_031276:exon6:c.C375G:p.I125M	Spermatogenic failure, X-linked, 2, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	B	0.027	B	0.955	N	0.993	N	0.805	L	1.68	T	-1.018	T	0.041	T	0.057	-2.363	0.004	-9.35	-3.772	-1.322	10.846	0.011	0.00154327760253	.	.	3.544e-05	0	0	0	0	4.345e-05	0	0.0001	3.23e-05	5	154602	rs770843069	3.832e-05	3.824e-05	3.812e-05	3.875e-05	7.402e-05	2.869e-05	2.544e-05	3.249e-05	2.836e-05	0	0	0	0	0	0	4.404e-05	2.173e-05	7.402e-05	2.683e-05	2.613e-05	2.571e-05	2.94e-05	5.637e-05	7.13e-06	2.98e-06	1.496e-05	8.15e-06	0	0	0	0	0	0	0	5.637e-05	0	0	0.304	0.14303	T	0.198	0.28300	T	0.052	0.22494	B	0.027	0.21085	B	0.954693	0.07678	N	1.022040	0.999999	0.08975	N	1.1	0.28011	L	1.68	0.27331	T	0.01	0.06868	N	0.018	0.00252	-1.0184	0.24236	T	0.041	0.17573	T	9	0.06172833	0.07783	T	0.001543	0.02420	T	0.011	0.01250	0.264	0.20946	0.226560886239	0.22246	0.0671385164734485	0.06651	0.313104685664	0.33605	0.294938385487	0.09649	T	0.032564	0.22540	T	-0.685087	0.00045	T	-1.01635	0.00110	T	0.215313345193863	0.21227	T	0.367163	0.08573	T	0.06765794	0.14671	0.07757467	0.17293	0.06765794	0.14670	0.07757467	0.17293	-1.991	0.03584	T	0.11726923188098118	0.10694	0.080	0.07985	B	.;.;.	.;.;.	-1.738883	0.00179	0.003	0.4671895718439692	0.03764	0.00781	0.03206	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999872576568463	0.44625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.67	-9.35	0.00536	-1.387000	0.02641	.	.	-1.228000	0.01329	0.000000	0.06391	0.000000	0.08366	0.140000	0.19946	0.637:0.2807:0.0822:0.0	10.846	0.45950	120	0.95183	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1666.98	35	chrX	70853278	.	G	C	1666.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.90;DP=819;ExcessHet=0.0000;FS=0.712;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.01;ReadPosRankSum=-2.601e+00;SOR=0.836	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1031	20	0	1	0
chrX	71667915	71667915	G	A	exonic	LOC101059915	.	nonsynonymous SNV	LOC101059915:NM_001323075:exon1:c.G112A:p.G38S,	.	.	557	942	14	9	0	32	0.0167015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00344371	.	.	.	.	.	.	.	.	0.0056862	148	26028	rs187786114	0.0083	0.0079	0.0082	0.0085	0.0172	0.0082	0.0081	0.0133	0.0119	0.0008	0.0042	0.0170	0.0003	0.0092	0.0172	0.0088	0.0084	0.0063	0.0057	0.0058	0.0059	0.0053	0.0082	0.0054	0.0052	0.0076	0.0073	0.0009	0	0.0050	0.0158	0	0.0077	0.0230	0.0082	0.0091	0.0067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007861108	0.00179	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.390761	0.09705	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11220	B	.	.	-0.129445	0.03469	0.645	0.86795719449471675	0.16779	0.01530	0.05038	N	AEFDBI	.	.	.	.	.	.	.	.	.	5.22590909710222E-4	0.07225	.	.	.	.	.	.	.	.	.	.	.	.	0.0436289	0.02737	2.46	1.58	0.22557	-0.345000	0.07819	-0.900000	0.06995	-0.328000	0.05798	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1922:0.0:0.8078:0.0	4.635	0.11903	125	0.94984	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	4134.11	33	chrX	71667915	.	G	A	4134.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.07;DP=935;ExcessHet=0.1072;FS=3.542;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=16.47;ReadPosRankSum=1.66;SOR=0.722	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1283	19	0	2	0
chrX	72129941	72129941	G	A	exonic	RTL5	.	nonsynonymous SNV	RTL5:NM_001024455:exon1:c.C1600T:p.R534C,	.	.	433	1078	9	2	0	13	0.00599355	.	.	1196403	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.999	D	0.681	P	.	.	1.000	N	0.345	N	2.46	T	-1.055	T	0.034	T	0.455	0.389	6.112	2.99	0.970	0.737	7.799	0.106	0.00205762552757	0.0003	0.000264901	0.0004	0	0	0	0	0.0007	0.0016	0.0001	0.0004075	63	154602	rs201122770	0.0004	0.0004	0.0004	0.0004	0.0085	0.0004	0.0004	0.0063	0.0055	0.0002	0.0001	0	0	2.468e-05	0.0085	0.0004	0.0009	0.0004	0.0003	0.0003	0.0004	0.0003	0.0005	0.0002	0.0002	0.0004	0.0003	3.259e-05	0	0.0002	0	0	0	0	0.0005	0.0033	0	.	.	.	0.039	0.51112	D	0.999	0.77913	D	0.681	0.53500	P	.	.	.	.	0.999998	0.08975	N	.	.	.	.	.	.	.	.	.	0.146	0.14763	-1.0553	0.12961	T	0.034	0.14813	T	8	0.04572305	0.03677	T	0.002058	0.03775	T	.	.	.	.	0.104622674875	0.10061	0.10675133778025742	0.10605	.	.	0.481512129307	0.36265	T	0.008167	0.07514	T	-0.343047	0.05179	T	-0.360625	0.37981	T	0.0234708476110938	0.01080	T	0.712229	0.32360	T	0.11841067	0.27899	0.1761174	0.40124	0.11841067	0.27899	0.1761174	0.40123	-7.391	0.56841	T	.	.	0.137	0.29887	B	.	.	2.047866	0.26035	16.97	0.97678823172180584	0.35300	0.13250	0.17750	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999909703249938	0.45458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.87	2.99	0.33673	0.751000	0.26013	5.958000	0.51771	0.676000	0.76740	0.770000	0.29357	1.000000	0.68203	0.026000	0.12556	0.0:0.0:0.7525:0.2475	7.799	0.28328	264	0.89640	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2917.98	34	chrX	72129941	.	G	A	2917.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=1370;ExcessHet=0.0000;FS=1.034;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.85;ReadPosRankSum=0.932;SOR=0.785	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,101,1377	20	0	1	0
chrX	73563364	73563378	CGTCGTCGTCGTCGC	-	exonic	CHIC1	.	nonframeshift deletion	CHIC1:NM_001039840:exon1:c.80_94del:p.P32_S36del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1055194208	1.149e-05	1.093e-05	9.892e-06	1.486e-05	0.0001	6.13e-06	4.84e-06	2.988e-05	1.628e-05	0	0	0	0.0001	0	0	9.828e-06	0	2.078e-05	9.289e-06	8.75e-06	1.291e-05	0	1.926e-05	0	0	.	.	0	0	0	0	0	0	0	1.926e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2435.94	33	chrX	73563363	.	ACGTCGTCGTCGTCGC	A	2435.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=908;ExcessHet=0.0000;FS=2.906;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.98;MQRankSum=-1.137e+00;QD=16.13;ReadPosRankSum=-1.219e+00;SOR=0.780	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,114,1247	20	0	1	0
chrX	74591813	74591813	G	A	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.C1502T:p.S501L	Mental retardation, X-linked 61, X-linked recessive	.	9	1490	23	0	0	23	0.00765901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.0	B	0.0	B	0.264	N	0.950	D	1.545	L	3.03	T	-1.071	T	0.025	T	0.431	0.577	7.117	4.55	1.072	2.664	13.469	0.132	0.00392722355489	.	.	0.0002	0.0001	0	0	0	0.0002	0	0.0005	3.84e-05	1	26028	rs200629905	9.112e-07	2.732e-06	1.361e-06	0	1.188e-06	0	0	.	.	0	0	0	0	0	0	1.188e-06	0	0	1.841e-05	0.0001	2.588e-05	0	3.351e-05	3.06e-06	1.15e-06	.	.	3.351e-05	0	0	0	0	0	0	1.925e-05	0	0	0.42	0.09836	T	0.382	0.15890	T	0.0	0.02946	B	0.0	0.01387	B	0.264373	0.15251	N	0.666655	0.949983	0.37675	D	0.75	0.19020	N	3.03	0.08898	T	-0.73	0.20576	N	0.123	0.11483	-1.0706	0.09282	T	0.025	0.10598	T	10	0.013200998	0.00281	T	0.003927	0.09274	T	0.132	0.35948	.	.	0.474660930215	0.47096	0.4159198749435835	0.41507	0.659223824986	0.58794	0.605702996254	0.53710	T	0.099372	0.40412	T	-0.300593	0.08604	T	-0.669557	0.07637	T	0.123469986021519	0.14766	T	0.649135	0.25986	T	0.103400156	0.24439	0.122803114	0.29618	0.103400156	0.24438	0.122803114	0.29617	-7.457	0.57308	T	0.06091627704634275	0.01704	0.072	0.04198	B	.;.	.;.	1.715856	0.21849	15.37	0.81488155183217736	0.13710	0.91941	0.54595	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999021295674977	0.38237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.41	4.55	0.55429	2.957000	0.48830	4.344000	0.43067	-0.113000	0.14837	0.998000	0.41325	1.000000	0.68203	0.948000	0.49324	0.0772:0.0:0.9228:0.0	13.469	0.60726	99	0.95913	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	280.42	34	chrX	74591813	.	G	A	280.42	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-2.189e+00;DP=1340;ExcessHet=1.1607;FS=0.872;InbreedingCoeff=-0.1196;MLEAC=3;MLEAF=0.071;MQ=58.73;MQRankSum=-7.437e+00;QD=0.60;ReadPosRankSum=-3.262e+00;SOR=0.852	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1174	16	0	5	0
chrX	74591904	74591904	A	G	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.T1411C:p.S471P	Mental retardation, X-linked 61, X-linked recessive	.	9	1217	293	0	3	296	0.107444	.	.	706313	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.22	T	0.842	P	0.1	B	0.514	U	1.000	N	0	N	-1.96	D	-0.795	T	0.216	T	0.391	-2.619	0	0.088	0.675	0.068	3.724	0.240	.	.	.	0.0029	0.0116	0.0005	0	0.0003	0.0029	0	0.0019	0.0113453	1754	154602	rs201164156	0.0008	0.0027	0.0011	0	0.0013	0.0007	0.0007	0.0009	0.0008	0.0013	0.0003	0.0003	0.0002	0.0021	0.0008	0.0008	0.0009	0.0001	0.0005	0.0047	0.0008	0	0.0009	0.0004	0.0004	0.0004	0.0003	0.0006	0	0.0005	0.0004	0.0009	0.0005	0	0.0005	0.0007	0.0004	0.21	0.19639	T	0.328	0.18675	T	0.842	0.46562	P	0.1	0.30674	B	0.514165	0.11812	U	0.638142	1	0.08975	N	1.7	0.43825	L	-1.96	0.85091	D	-0.25	0.11008	N	0.207	0.22998	-0.7951	0.55432	T	0.216	0.57836	T	10	0.006244242	0.00141	T	.	.	.	0.240	0.54500	.	.	.	.	0.4665592874844735	0.46574	0.934645105114	0.71975	0.607906699181	0.54020	T	0.132362	0.46240	T	-0.0295646	0.47480	T	-0.280244	0.46779	T	0.0105822094544231	0.00148	T	0.430157	0.11673	T	0.09892091	0.23338	0.13853694	0.33082	0.09892091	0.23338	0.13853694	0.33082	-7.284	0.56081	T	0.3542269034747019	0.45119	0.098	0.16231	B	.;.	.;.	0.643466	0.10120	6.865	0.20867452940731573	0.00770	0.09317	0.15097	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.920848692020125	0.26649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.66	0.088	0.13764	0.990000	0.29242	2.406000	0.32617	0.756000	0.94297	0.212000	0.24446	0.201000	0.23571	0.004000	0.06068	0.5962:0.4038:0.0:0.0	3.724	0.07997	99	0.95913	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.3095	5960.15	34	chrX	74591904	.	A	G	5960.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-3.726e+00;DP=3755;ExcessHet=11.8493;FS=3.151;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=58.85;MQRankSum=-1.351e+01;QD=1.72;ReadPosRankSum=3.78;SOR=0.410	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1174	8	0	13	0
chrX	74591957	74591957	C	T	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.G1358A:p.S453N	Mental retardation, X-linked 61, X-linked recessive	.	10	1315	197	0	0	197	0.0696852	.	.	2752745	Intellectual_disability,_X-linked_61	MONDO:MONDO:0010506,MedGen:C4283894,OMIM:300978	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.56	T	0.0	B	0.0	B	0.017	N	1.000	N	0.895	L	-1.6	D	-0.872	T	0.310	T	0.192	-1.096	0.146	4.1	1.077	-0.129	7.602	0.158	0.22060859109	.	.	0	0	0	0	0	0	0	0	7.68e-05	2	26028	rs201787580	2.754e-06	0.0004	4.09e-06	0	3.589e-06	7.3e-07	2e-07	9.6e-07	2.7e-07	0	0	0	0	0	0	3.589e-06	0	0	2.789e-05	0.0021	3.904e-05	0	9.85e-05	7.41e-06	3.06e-06	6.46e-06	2.42e-06	0	0	9.85e-05	0	0	0	0	3.895e-05	0	0	0.257	0.16738	T	0.499	0.11227	T	0.0	0.02946	B	0.0	0.01387	B	0.016982	0.27835	N	0.389770	1	0.08975	N	0.685	0.16464	N	-1.6	0.82165	D	-0.42	0.14193	N	0.236	0.26596	-0.8724	0.50349	T	0.310	0.68066	T	10	0.122223884	0.23183	T	0.220609	0.87766	D	0.158	0.41098	.	.	0.557858568325	0.55445	0.312164728673577	0.31129	0.692380051853	0.60661	0.502812802792	0.39220	T	0.172441	0.52093	T	-0.174656	0.24534	T	-0.488658	0.23531	T	0.0512267297337718	0.05713	T	0.508649	0.16166	T	0.07587642	0.17124	0.10946825	0.26384	0.07587642	0.17124	0.10946825	0.26384	-6.705	0.51848	T	.	.	0.087	0.11606	B	.;.	.;.	0.832856	0.12043	8.599	0.64009249238066646	0.07376	0.44947	0.27430	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.995911489112744	0.34405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.98	4.1	0.47196	0.741000	0.25870	0.022000	0.13604	0.599000	0.40250	0.101000	0.22814	0.000000	0.08366	0.960000	0.51673	0.0:0.8818:0.0:0.1182	7.602	0.27251	99	0.95913	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	1974.03	34	chrX	74591957	.	C	T	1974.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-1.777e+00;DP=2767;ExcessHet=1.7912;FS=2.136;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=59.08;MQRankSum=-1.348e+01;QD=1.28;ReadPosRankSum=-2.514e+00;SOR=1.036	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1174	15	0	6	0
chrX	74740311	74740311	G	A	exonic	NEXMIF	.	nonsynonymous SNV	NEXMIF:NM_001008537:exon3:c.C4246T:p.P1416S,	.	.	0	1488	19	15	0	49	0.0161983	.	.	209184	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.28	T	0.003	B	0.003	B	0.950	N	1.000	N	-0.145	N	1.4	T	-1.011	T	0.041	T	0.191	-0.099	3.513	0.953	0.072	1.139	5.072	0.024	.	0.0025	0.00423841	0.0042	0.0002	0.0025	0	0.0009	0.0032	0.0047	0.0183	0.0041461	641	154602	rs143577015	0.0037	0.0037	0.0033	0.0045	0.0210	0.0036	0.0036	0.0179	0.0175	0.0004	0.0030	0.0036	0	0.0006	0.0210	0.0030	0.0045	0.0189	0.0030	0.0031	0.0030	0.0028	0.0187	0.0027	0.0026	0.0146	0.0131	0.0005	0	0.0021	0.0019	0	0.0010	0.0186	0.0042	0.0046	0.0187	0.164	0.23360	T	0.537	0.09863	T	0.003	0.11197	B	0.003	0.08700	B	0.950024	0.07650	N	1.020200	1	0.08975	N	.	.	.	1.4	0.33630	T	-0.26	0.11185	N	0.043	0.01577	-1.0113	0.26510	T	0.041	0.17446	T	10	0.005046755	0.00109	T	.	.	.	0.043	0.11576	.	.	0.110392049598	0.10638	0.05384120559567808	0.05326	0.225443782394	0.25087	0.246586099267	0.03417	T	0.026208	0.19441	T	-0.671795	0.00054	T	-0.723484	0.04629	T	0.0017482905982906	0.00018	T	0.627737	0.24333	T	0.033257518	0.03508	0.07495811	0.16451	0.03067696	0.02771	0.060889095	0.11667	-2.562	0.06220	T	.	.	0.087	0.11414	B	.;.;.	.;.;.	1.128051	0.15144	11.62	0.79036634721978738	0.12562	0.63772	0.32194	D	AEFBI	.	.	.	.	.	.	.	.	.	1.02528459067012E-4	0.05123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.36	0.953	0.18714	2.789000	0.47504	3.723000	0.39593	-0.169000	0.11342	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.1589:0.2892:0.4622:0.0896	5.072	0.13946	103	0.95740	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.07143	5724.66	35	chrX	74740311	.	G	A	5724.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.485e+00;DP=974;ExcessHet=0.0000;FS=0.420;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=17.89;ReadPosRankSum=-7.000e-03;SOR=0.731	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1112	19	1	1	0
chrX	75274469	75274469	C	T	exonic	UPRT	.	nonsynonymous SNV	UPRT:NM_001307944:exon1:c.C215T:p.S72F	.	.	431	1079	8	4	0	16	0.00735971	.	.	1196408	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.15	B	0.052	B	0.000	N	1.000	N	0.345	N	.	.	-1.070	T	0.049	T	0.286	1.815	12.03	-2.19	-1.009	-0.310	1.506	0.067	0.00866531453799	0.0006	.	0.0005	0	0.0009	0	0	0.0008	0	0.0001	0.0004592	71	154602	rs144630001	0.0007	0.0007	0.0006	0.0007	0.0215	0.0006	0.0006	0.0179	0.0166	0.0005	0.0007	0.0055	0	0	0.0215	0.0005	0.0019	0.0002	0.0004	0.0004	0.0004	0.0004	0.0005	0.0003	0.0003	0.0003	0.0003	9.734e-05	0	0.0003	0.0030	0	0	0.0139	0.0005	0.0026	0	0.01	0.57480	D	0.035	0.53426	D	0.019	0.17989	B	0.023	0.19966	B	0.000290	0.00554	N	3.815970	1	0.08975	N	0	0.06538	N	.	.	.	-1.08	0.28497	N	0.161	0.16864	-1.0704	0.09326	T	0.049	0.20868	T	9	0.0054303706	0.00120	T	0.008665	0.22878	T	0.067	0.19503	.	.	0.043077524339	0.03247	0.23397083950401912	0.23312	0.189411528645	0.21256	0.329345345497	0.14835	T	0.181773	0.53355	T	-0.606822	0.00132	T	-0.73238	0.04221	T	0.0238014036086912	0.01120	T	0.751225	0.37284	T	0.06055136	0.12439	0.08877476	0.20720	0.06055136	0.12439	0.08877476	0.20719	-5.924	0.45639	T	.	.	0.085	0.11845	B	.;.	.;.	1.378445	0.17898	13.43	0.97081343485066285	0.32281	0.02092	0.06211	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999999999216082	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.14	-2.19	0.06621	-0.090000	0.11129	.	.	-0.206000	0.08541	0.000000	0.06391	.	.	0.251000	0.23288	0.1261:0.2219:0.2448:0.4072	1.506	0.02337	197	0.92378	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1193.98	39	chrX	75274469	.	C	T	1193.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.06;DP=797;ExcessHet=0.0000;FS=1.598;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=-6.560e-01;SOR=0.526	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1014	20	0	1	0
chrX	75450748	75450748	C	A	exonic	ZDHHC15	.	nonsynonymous SNV	ZDHHC15:NM_001146257:exon3:c.G406T:p.A136S,	.	.	1	1516	3	2	0	7	0.00230339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.015e-05	0	0.0002	0	0	8.362e-05	0	9.927e-05	7.12e-05	11	154602	rs764335966	8.941e-05	9.014e-05	8.856e-05	9.114e-05	0.0022	7.506e-05	6.896e-05	0.0011	0.0009	0	5.698e-05	5.185e-05	0	0	0.0022	9.16e-05	0.0001	5.545e-05	8.973e-05	8.711e-05	0.0001	5.943e-05	0.0002	4.827e-05	3.697e-05	7.462e-05	5.463e-05	6.512e-05	0	0	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1668.98	37	chrX	75450748	.	C	A	1668.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.588e+00;DP=843;ExcessHet=0.0000;FS=4.038;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.35;ReadPosRankSum=0.349;SOR=0.424	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1174	20	0	1	0
chrX	75783727	75783727	C	T	exonic	MAGEE2	.	nonsynonymous SNV	MAGEE2:NM_138703:exon1:c.G1325A:p.R442H,	.	.	426	1090	5	1	0	7	0.00320073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.91	P	0.285	B	.	.	1.000	N	0.205	N	3.55	T	-0.922	T	0.008	T	0.219	1.071	9.374	2.49	1.518	2.076	7.697	0.050	.	9.5e-05	0.00370861	0.0020	0.0001	0.0002	0.0003	0.0002	0.0002	0	0.0160	0.0020181	312	154602	rs147432059	0.0011	0.0011	0.0008	0.0019	0.0187	0.0011	0.0011	0.0177	0.0173	0.0001	0.0005	0.0004	6.621e-05	0	0.0034	0.0002	0.0011	0.0187	0.0005	0.0006	0.0004	0.0008	0.0165	0.0004	0.0004	0.0127	0.0113	3.246e-05	0	0	0	0.0006	0	0	0.0002	0	0.0165	0.129	0.26852	T	0.129	0.34837	T	0.91	0.50240	P	0.285	0.40506	B	.	.	.	.	0.999954	0.19072	N	0.345	0.11182	N	3.55	0.04746	T	-0.43	0.14390	N	0.067	0.03956	-0.9220	0.45279	T	0.008	0.02968	T	9	0.0064502954	0.00146	T	.	.	.	0.050	0.13987	.	.	0.378322506985	0.37446	0.3358669512056169	0.33499	0.0118808950475	0.01121	0.653296172619	0.60454	T	0.006686	0.06116	T	-0.723379	0.00026	T	-0.79758	0.01964	T	0.0268665140501054	0.01525	T	0.572043	0.20399	T	0.070626624	0.15572	0.10366731	0.24878	0.070626624	0.15571	0.10366731	0.24877	-5.01	0.36948	T	.	.	0.117	0.23918	B	.	.	1.868316	0.23735	16.13	0.97111271910827279	0.32413	0.46054	0.27675	N	AEFGI	.	.	.	.	.	.	.	.	.	0.00168018110995682	0.08770	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.49	2.49	0.29274	1.120000	0.30885	1.158000	0.24531	0.452000	0.21348	1.000000	0.71638	0.950000	0.28999	0.786000	0.37147	0.0:1.0:0.0:0.0	7.697	0.27766	222	0.91398	MAGE homology domain|MAGE homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2304.98	39	chrX	75783727	.	C	T	2304.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.448;DP=908;ExcessHet=0.0000;FS=5.209;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=-8.270e-01;SOR=0.433	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1036	20	0	1	0
chrX	75785041	75785041	A	G	exonic	MAGEE2	.	nonsynonymous SNV	MAGEE2:NM_138703:exon1:c.T11C:p.V4A,	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.984	D	0.935	D	.	.	0.974	N	0.55	N	3.36	T	-1.002	T	0.024	T	0.351	3.056	16.20	2.86	1.387	2.463	6.717	0.070	0.00709480685192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.878e-07	9.105e-07	1.445e-06	0	3.391e-05	0	0	.	.	0	0	0	3.391e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.026	0.55759	D	0.984	0.60733	D	0.935	0.67021	D	.	.	.	.	0.973689	0.25533	N	1.1	0.28011	L	3.36	0.05918	T	-0.17	0.09627	N	0.315	0.35514	-1.0022	0.29284	T	0.024	0.10194	T	9	0.28062907	0.45639	T	0.007095	0.18786	T	0.070	0.20419	0.401	0.43081	0.566629817802	0.56326	0.426789600324093	0.42595	0.076962351002	0.08643	0.736687958241	0.72486	T	0.004696	0.04103	T	-0.267627	0.12022	T	-0.622204	0.11013	T	0.694611157277904	0.40463	D	0.432757	0.11777	T	0.108274765	0.25600	0.21569638	0.46169	0.108274765	0.25600	0.21569638	0.46168	-2.961	0.09767	T	.	.	0.154	0.33981	B	.	.	3.421312	0.47502	22.5	0.99622183160786404	0.75473	0.55012	0.29758	D	AEFBHCI	.	.	.	.	.	.	.	.	.	0.778642236857883	0.23799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.86	2.86	0.32427	2.471000	0.44786	8.154000	0.76719	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	1.0:0.0:0.0:0.0	6.717	0.22496	222	0.91398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	889.98	39	chrX	75785041	.	A	G	889.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.060;DP=775;ExcessHet=0.0000;FS=2.046;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=-6.700e-01;SOR=1.002	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1036	20	0	1	0
chrX	76429971	76429971	A	G	exonic	MAGEE1	.	nonsynonymous SNV	MAGEE1:NM_020932:exon1:c.A2041G:p.M681V,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.872	P	0.637	P	.	.	1.000	N	0.55	N	4.13	T	-0.920	T	0.009	T	0.224	-0.481	1.783	1.11	0.198	0.485	3.998	0.077	0.0117351664862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.24564	T	0.147	0.32783	T	0.872	0.47902	P	0.637	0.51992	P	.	.	.	.	1	0.08975	N	0.6	0.15550	N	4.13	0.02865	T	-1.54	0.37375	N	0.199	0.21969	-0.9200	0.45554	T	0.009	0.03096	T	9	0.19013369	0.34644	T	0.011735	0.29644	T	0.077	0.22490	0.308	0.27967	0.123314135267	0.11883	0.3757554135382434	0.37489	0.380110707672	0.39380	0.608645558357	0.54124	T	0.012534	0.11001	T	-0.395587	0.02475	T	-0.80601	0.01757	T	0.160753927982676	0.17927	T	0.473853	0.14122	T	0.16362625	0.36516	0.22304338	0.47170	0.16362625	0.36516	0.22304338	0.47169	-3.59	0.17713	T	.	.	0.167	0.36850	B	.	.	1.813487	0.23047	15.86	0.65384492911815251	0.07757	0.07585	0.13596	N	AEFBI	.	.	.	.	.	.	.	.	.	0.818258183788373	0.24477	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.35	1.11	0.19640	0.156000	0.16200	0.421000	0.18220	0.660000	0.55035	0.938000	0.32564	0.000000	0.08366	0.997000	0.79791	0.6769:0.0:0.0:0.3231	3.998	0.09057	203	0.92088	MAGE homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1620.98	34	chrX	76429971	.	A	G	1620.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.020e-01;DP=868;ExcessHet=0.0000;FS=1.544;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.87;ReadPosRankSum=-1.442e+00;SOR=0.547	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1281	20	0	1	0
chrX	77681715	77681715	C	G	exonic	ATRX	.	nonsynonymous SNV	ATRX:NM_138270:exon8:c.G3427C:p.V1143L	Alpha-thalassemia myelodysplasia syndrome, somatic;Alpha-thalassemia/mental retardation syndrome, X-linked dominant;Mental retardation-hypotonic facies syndrome, X-linked, X-linked recessive	.	29	1492	1	0	0	1	0.000335008	.	.	137398	Inborn_genetic_diseases|not_provided|Alpha_thalassemia-X-linked_intellectual_disability_syndrome|not_specified|ATRX-related_disorder	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0010519,MedGen:C1845055,OMIM:301040,Orphanet:847|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.32	T	0.026	B	0.018	B	0.939	N	1.000	N	0.695	N	-2.95	D	-0.613	T	0.426	T	0.13	0.400	6.172	-3.02	-0.540	-0.493	5.696	0.120	0.0467387390179	0.0017	0.000794702	0.0015	0.0002	0.0002	0	0.0075	0.0019	0.0016	0.0004	0.0013777	213	154602	rs61758732	0.0013	0.0013	0.0013	0.0013	0.0011	0.0012	0.0012	0.0011	0.0010	3.825e-05	8.682e-05	0	0	0.0098	0	0.0011	0.0008	0.0003	0.0013	0.0014	0.0013	0.0013	0.0014	0.0011	0.0011	0.0011	0.0010	0.0002	0	0	0	0	0.0108	0	0.0014	0.0007	0	0.024	0.47745	D	0.374	0.30828	T	0.007	0.14184	B	0.005	0.11217	B	0.939230	0.07584	N	1.031250	1	0.08975	N	.	.	.	-2.95	0.91903	D	-0.53	0.16393	N	0.032	0.04426	-0.6131	0.64275	T	0.426	0.76923	T	10	0.006064117	0.00136	T	0.046739	0.62596	D	0.120	0.33359	.	.	0.489948921735	0.48629	0.11863875637863988	0.11790	0.0242731493867	0.02464	0.328890562057	0.14766	T	0.00683	0.16396	T	-0.495366	0.00607	T	-0.490811	0.23306	T	0.00121118729591661	0.00012	T	0.762924	0.60805	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.28492	B	.;.;.;.	.;.;.;.	0.836293	0.12081	8.632	0.70906530151531388	0.09450	0.04386	0.09966	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.960983914301221	0.28524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.65	-3.02	0.05116	-0.798000	0.04670	-0.179000	0.11150	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.993000	0.69303	0.0:0.248:0.2568:0.4952	5.696	0.17126	200	0.92234	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.04762	3945.08	34	chrX	77681715	.	C	G	3945.08	.	AC=2;AF=0.048;AN=42;DP=891;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.88;SOR=0.726	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	20	1	0	0
chrX	78273427	78273427	A	T	exonic	CYSLTR1	.	nonsynonymous SNV	CYSLTR1:NM_001282186:exon2:c.T320A:p.L107H	.	.	428	1092	1	1	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	0.999	D	2.8	M	-0.77	T	0.250	D	0.584	D	0.923	3.632	18.47	4.53	1.467	9.076	10.906	0.797	0.0841712603947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.199e-06	8.195e-06	5.445e-06	1.377e-05	0.0010	3.86e-06	2.79e-06	0.0003	0.0002	0	0	0	0	0	0.0010	5.939e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.013	0.63109	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.998513	0.45021	D	3.67	0.94359	H	-0.77	0.73523	T	-5.23	0.83899	D	0.918	0.92317	0.250	0.86744	D	0.584	0.85079	D	10	0.90692246	0.90057	D	0.084171	0.74270	D	0.797	0.93346	0.613	0.74652	0.982125380434	0.98193	0.6050131440392642	0.60432	0.0455294607063	0.04937	0.819148957729	0.84897	D	0.580678	0.86264	D	0.500964	0.94332	D	0.481824	0.94254	D	0.997956871986389	0.92847	D	0.782022	0.41734	T	0.9675657	0.98030	0.95494896	0.98690	0.9675657	0.98030	0.95494896	0.98691	-12.429	0.86879	D	.	.	0.958	0.87791	P	.;.	.;.	4.629968	0.73600	26.0	0.98465680005594958	0.41791	0.98173	0.80235	D	AEFI	.	.	.	.	.	.	.	.	.	0.99860184146374	0.37289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.53	4.53	0.55009	9.064000	0.93360	10.894000	0.84107	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	10.906	0.46292	388	0.83355	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1481.98	41	chrX	78273427	.	A	T	1481.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.570e-01;DP=896;ExcessHet=0.0000;FS=5.476;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=-1.369e+00;SOR=1.187	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1184	20	0	1	0
chrX	79171270	79171270	C	A	exonic	GPR174	.	nonsynonymous SNV	GPR174:NM_032553:exon3:c.C263A:p.P88H,	.	.	431	1072	8	11	0	30	0.0137994	.	.	3192389	GPR174-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.08	T	0.0	B	0.003	B	0.978	N	1.000	N	0.305	N	-0.62	T	-0.929	T	0.181	T	0.143	0.241	5.300	3.04	0.891	1.078	7.885	0.082	0.00898659524547	0.0014	0.0010596	0.0022	0.0007	0.0012	0	0.0005	0.0027	0	0.0046	0.0021992	340	154602	rs147721174	0.0029	0.0029	0.0029	0.0030	0.0065	0.0029	0.0028	0.0046	0.0040	0.0005	0.0018	0.0004	3.315e-05	0.0005	0.0065	0.0032	0.0028	0.0043	0.0019	0.0019	0.0020	0.0015	0.0031	0.0016	0.0016	0.0027	0.0025	0.0005	0	0.0016	0.0004	0	0.0003	0	0.0031	0.0013	0.0030	0.14	0.25664	T	0.141	0.33442	T	0.0	0.02946	B	0.003	0.08700	B	0.978483	0.08110	N	0.990227	1	0.08975	N	-0.29	0.03673	N	-0.62	0.71895	T	0.33	0.03889	N	0.057	0.02861	-0.9286	0.44342	T	0.181	0.52843	T	10	0.007401705	0.00168	T	0.008987	0.23678	T	0.082	0.23913	.	.	0.161926535498	0.15789	0.6680447524467892	0.66742	0.294491625161	0.31871	0.389591693878	0.23612	T	0.005212	0.04657	T	-0.580106	0.00192	T	-0.606203	0.12296	T	0.0021638483810557	0.00022	T	0.639636	0.25265	T	0.20237204	0.42280	0.16100536	0.37472	0.20237204	0.42280	0.16100536	0.37471	-3.426	0.15408	T	.	.	0.158	0.36928	B	.;.	.;.	0.990417	0.13686	10.22	0.87387625887651899	0.17191	0.02742	0.07419	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.999065652146942	0.38343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.08	3.04	0.34171	1.121000	0.30897	0.159000	0.15383	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.979000	0.57723	0.398:0.4773:0.1247:0.0	7.885	0.28805	663	0.61610	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4167.98	78	chrX	79171270	.	C	A	4167.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.32;DP=1601;ExcessHet=0.0000;FS=0.878;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.99;ReadPosRankSum=0.464;SOR=0.763	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	20	0	1	0
chrX	80677318	80677318	G	T	exonic	BRWD3	.	nonsynonymous SNV	BRWD3:NM_153252:exon41:c.C4700A:p.P1567H,	Mental retardation, X-linked 93, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	B	0.001	B	0.340	N	0.941	D	-0.345	N	0.59	T	-1.054	T	0.070	T	0.137	0.191	5.028	3.26	1.930	2.163	13.652	0.039	0.0143731987452	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs763361602	1.097e-05	1.093e-05	1.09e-05	1.11e-05	1.428e-05	5.85e-06	4.62e-06	7.61e-06	6.01e-06	0	0	0	0	0	0	1.428e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.129	0.34837	T	0.002	0.09854	B	0.001	0.04355	B	0.339864	0.13980	N	0.678240	0.941319	0.37329	D	0.895	0.22405	L	0.59	0.53943	T	-0.67	0.19297	N	0.132	0.12770	-1.0540	0.13305	T	0.070	0.28511	T	9	0.08959046	0.15533	T	0.014373	0.34441	T	0.039	0.10176	0.194	0.10571	0.29893580763	0.29502	0.13990613607825672	0.13913	0.450389580777	0.44803	0.363233447075	0.19856	T	0.138255	0.47164	T	-0.295826	0.09058	T	-0.66271	0.08085	T	0.253372947875857	0.23023	T	0.659934	0.26896	T	0.33116236	0.55566	0.41290745	0.65480	0.33116236	0.55566	0.41290745	0.65480	-3.949	0.23038	T	0.201912599211606	0.26839	0.076	0.06024	B	.	.	1.917717	0.24354	16.37	0.84188529928660194	0.15147	0.83960	0.43049	D	AEFBI	.	.	.	.	.	.	.	.	.	4.23864935852499E-4	0.06935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.22	3.26	0.36471	2.211000	0.42465	3.636000	0.39331	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8335:0.1665	13.652	0.61792	681	0.59854	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1416.08	37	chrX	80677318	.	G	T	1416.08	.	AC=2;AF=0.048;AN=42;DP=739;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.50;SOR=1.067	GT:AD:DP:GQ:PL	0/0:34,0:34:93:0,93,1395	20	1	0	0
chrX	85108710	85108710	G	C	exonic	SATL1	.	nonsynonymous SNV	SATL1:NM_001012980:exon1:c.C259G:p.P87A	.	.	418	1079	19	6	0	31	0.0141617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.713	P	0.162	B	.	.	1.000	N	1.355	L	1.07	T	-1.058	T	0.039	T	0.112	-0.058	3.720	-5.03	-0.781	0.952	1.011	0.046	0.00450242559426	0.0047	0.0015894	0.0056	0.0003	0.0022	0	0.0016	0.0081	0.0080	0.0061	0.0040038	619	154602	rs141330942	0.0053	0.0052	0.0053	0.0051	0.0107	0.0051	0.0051	0.0082	0.0073	0.0009	0.0019	0.0295	3.336e-05	0.0009	0.0107	0.0054	0.0055	0.0039	0.0035	0.0035	0.0035	0.0035	0.0048	0.0032	0.0031	0.0044	0.0042	0.0004	0	0.0025	0.0283	0	0.0010	0.0093	0.0048	0.0026	0.0034	0.342	0.12632	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.19694	N	.	.	.	1.07	0.39586	T	-3.86	0.72471	D	0.038	0.01203	-1.0576	0.12362	T	0.039	0.16720	T	8	0.004095465	0.00080	T	0.004502	0.11063	T	0.046	0.12618	.	.	0.239305524855	0.23518	0.16590832793118604	0.16510	0.247864250827	0.27341	0.195693701506	0.00342	T	.	.	.	-0.80291	0.00007	T	-0.924182	0.00358	T	0.0362402813275104	0.03023	T	0.478252	0.17252	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.03849	B	.;.;.;.	.;.;.;.	-0.372480	0.02317	0.247	0.25182517694932277	0.01149	0.07519	0.13533	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999955647072135	0.48110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.81	-5.03	0.02751	-0.700000	0.05183	-13.444000	0.00458	-0.941000	0.02090	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3:0.1614:0.3765:0.1621	1.011	0.01403	889	0.27310	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3863.98	37	chrX	85108710	.	G	C	3863.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.22;DP=1085;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.95;MQRankSum=0.00;QD=12.79;ReadPosRankSum=-4.230e-01;SOR=0.691	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chrX	86148643	86148643	T	C	exonic	DACH2	.	nonsynonymous SNV	DACH2:NM_001139514:exon1:c.T23C:p.V8A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.75	P	0.554	P	0.056	N	1.000	D	0.55	N	-1.98	D	-0.228	T	0.460	T	0.35	2.000	12.65	4.64	1.713	2.219	13.311	0.280	0.270126585564	9.5e-05	.	6.901e-05	0	0	0	0	0.0001	0	0	3.23e-05	5	154602	rs372249697	1.876e-05	1.912e-05	1.11e-05	3.471e-05	0.0003	1.225e-05	9.96e-06	0.0002	0.0001	0	0	0	0	0	0.0003	3.632e-06	2.231e-05	0.0003	2.703e-05	2.612e-05	3.858e-05	0	5.672e-05	7.18e-06	2.99e-06	1.505e-05	8.17e-06	0	0	0	0	0	0	0	5.672e-05	0	0	0.038	0.52492	D	0.385	0.16037	T	0.75	0.43260	P	0.554	0.49340	P	0.055873	0.22606	N	0.307980	0.869175	0.35530	D	0.695	0.17993	N	-1.99	0.85320	D	0.33	0.04613	N	0.113	0.12627	-0.2283	0.76932	T	0.460	0.79015	T	10	0.18623462	0.34080	T	0.270127	0.89846	D	0.280	0.59740	.	.	0.679697690268	0.67697	0.284635990108321	0.28376	0.39003678143	0.40224	0.768338322639	0.77177	T	0.082294	0.36795	T	-0.206867	0.19824	T	-0.242778	0.50528	T	0.13765742135028	0.16072	T	0.665133	0.27420	T	0.12608854	0.29542	0.17572379	0.40058	0.12608854	0.29541	0.17572379	0.40057	-3.62	0.18861	T	.	.	0.095	0.30130	B	.;.	.;.	2.106240	0.26800	17.24	0.98726427815802931	0.45289	0.78474	0.38721	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.983682901759247	0.30598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.64	4.64	0.57399	2.280000	0.43103	3.220000	0.36848	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:0.0:1.0	13.311	0.59815	949	0.11373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	398.98	34	chrX	86148643	.	T	C	398.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.199;DP=699;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.73;ReadPosRankSum=1.46;SOR=0.567	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,895	20	0	1	0
chrX	87518112	87518117	ACTGGC	-	exonic	KLHL4	.	nonframeshift deletion	KLHL4:NM_019117:exon1:c.219_224del:p.L74_A75del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0001	0	0.0003	3.84e-05	1	26028	rs746719631	0.0002	0.0002	0.0002	0.0002	0.0008	0.0002	0.0001	0.0006	0.0005	7.576e-05	0	0	0	4.939e-05	0	0.0002	2.17e-05	0.0008	7.136e-05	8.702e-05	2.57e-05	0.0002	0.0007	3.463e-05	2.511e-05	0.0001	5.509e-05	3.237e-05	0	0	0	0	0	0	9.395e-05	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2150.94	33	chrX	87518111	.	TACTGGC	T	2150.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.120e-01;DP=816;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.55;ReadPosRankSum=-4.820e-01;SOR=0.690	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1203	20	0	1	0
chrX	88753631	88753631	G	A	exonic	CPXCR1	.	nonsynonymous SNV	CPXCR1:NM_001184771:exon3:c.G217A:p.E73K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.989	D	0.447	P	0.076	N	1.000	N	0.895	L	1.29	T	-1.079	T	0.060	T	0.132	3.020	16.07	2.71	0.890	0.891	5.997	0.061	0.0124708347186	.	0.0015894	0.0003	0.0001	0	0	0	0	0	0.0028	0.0002781	43	154602	rs554729287	0.0001	0.0001	9.533e-05	0.0002	0.0021	9.907e-05	9.303e-05	0.0017	0.0016	0	0	0	3.312e-05	0	0	4.759e-06	0.0003	0.0021	0.0002	0.0002	9.005e-05	0.0003	0.0071	0.0001	8.695e-05	0.0046	0.0038	0	0	0	0	0	0	0	0	0	0.0071	0.031	0.45039	D	0.243	0.24193	T	0.989	0.62824	D	0.447	0.46003	P	0.076495	0.21160	N	0.340418	1	0.08975	N	1.04	0.26193	L	1.29	0.35775	T	-3.27	0.65512	D	0.042	0.01498	-1.0785	0.07641	T	0.060	0.24945	T	9	0.004975587	0.00107	T	0.012471	0.31071	T	0.061	0.17616	0.1	0.01484	0.154104182512	0.14974	0.13904163184775362	0.13827	0.0410283599376	0.04401	0.430972516537	0.29341	T	0.027713	0.20236	T	-0.686612	0.00044	T	-0.765832	0.02907	T	0.104106921106817	0.12802	T	0.633437	0.24778	T	0.26629636	0.49700	0.26210687	0.51998	0.26629636	0.49699	0.26210687	0.51997	-3.845	0.21478	T	.	.	0.169	0.37633	B	.;.;.	.;.;.	1.950944	0.24781	16.52	0.99727115012658629	0.82477	0.01749	0.05510	N	AEFI	.	.	.	.	.	.	.	.	.	3.88197139368437E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.57	2.71	0.31092	0.870000	0.27662	1.146000	0.24443	0.676000	0.76740	0.014000	0.18986	0.156000	0.23222	0.056000	0.15673	0.1446:0.0:0.8554:0.0	5.997	0.18726	974	0.05496	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1145.98	51	chrX	88753631	.	G	A	1145.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.80;DP=920;ExcessHet=0.0000;FS=5.605;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.48;ReadPosRankSum=0.106;SOR=1.269	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1184	20	0	1	0
chrX	91436668	91436668	G	A	exonic	PABPC5	.	nonsynonymous SNV	PABPC5:NM_080832:exon2:c.G1091A:p.R364H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.942	P	0.401	B	0.000	D	1.000	D	1.27	L	2.32	T	-1.121	T	0.036	T	0.413	0.787	8.148	3.28	1.107	9.240	9.143	0.248	0.0212191272092	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs751297464	3.647e-06	4.553e-06	2.724e-06	5.512e-06	1.85e-05	8.5e-07	5.8e-07	4e-07	1.5e-07	0	0	0	0	0	0	2.376e-06	2.174e-05	1.85e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.127	0.54159	T	0.942	0.52977	P	0.401	0.44513	B	0.000000	0.84330	D	0.000000	0.999933	0.51612	D	0.525	0.13617	N	2.32	0.16640	T	-3.9	0.74821	D	0.398	0.43899	-1.1212	0.02257	T	0.036	0.15553	T	10	0.50394374	0.61709	D	0.021219	0.43954	T	0.248	0.55615	0.66	0.79791	0.709873008806	0.70733	0.6437247062245874	0.64307	0.80591612175	0.66462	0.670064151287	0.62846	T	0.137415	0.47034	T	-0.18143	0.23522	T	-0.498388	0.22515	T	0.980539083480835	0.73411	D	0.967603	0.88252	D	0.34832907	0.56936	0.2814729	0.54129	0.34832907	0.56936	0.2814729	0.54128	-6.726	0.52006	T	.	.	0.129	0.27732	B	.;.	.;.	3.834041	0.55435	23.6	0.98822642594000976	0.46819	0.97533	0.75370	D	AEFBI	.	.	.	.	.	.	.	.	.	0.997238842572531	0.35404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.14	3.28	0.36691	7.850000	0.85220	4.526000	0.43706	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.112:0.0:0.888:0.0	9.143	0.36078	949	0.11373	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.175	871.64	124	chrX	91436668	.	G	A	871.64	.	AC=7;AF=0.175;AN=40;BaseQRankSum=-3.827e+00;DP=2002;ExcessHet=2.5830;FS=160.143;InbreedingCoeff=-0.2175;MLEAC=7;MLEAF=0.175;MQ=60.00;MQRankSum=0.00;QD=0.97;ReadPosRankSum=1.19;SOR=11.189	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1371	13	0	7	1
chrX	91835616	91835616	G	T	exonic	PCDH11X	.	nonsynonymous SNV	PCDH11X:NM_001168360:exon1:c.G112T:p.V38F	.	.	433	1084	4	1	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.11	M	1.64	T	-0.751	T	0.177	T	0.764	3.952	20.2	3.93	1.935	5.816	14.473	0.356	0.112066605475	.	.	6.845e-05	0	0	0	0	0.0001	0	0	7.76e-05	12	154602	rs752539325	8.104e-05	8.104e-05	7.895e-05	8.526e-05	0.0007	6.692e-05	6.217e-05	0.0002	0.0001	0	5.684e-05	0.0002	0	2.467e-05	0.0007	8.669e-05	0.0001	1.847e-05	2.712e-05	3.484e-05	2.572e-05	3.042e-05	0.0004	7.21e-06	3e-06	.	.	0	0	0	0.0004	0	0	0	1.89e-05	0	0.0004	0.011	0.56456	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	0.99998	0.54805	D	1.465	0.36909	L	1.64	0.27822	T	-3.09	0.63901	D	0.711	0.75374	-0.7513	0.57867	T	0.177	0.52131	T	10	0.6776366	0.71087	D	0.112067	0.79008	D	0.356	0.67691	0.448	0.50793	0.743348397409	0.74104	0.9391187386239206	0.93892	2.62205694876	0.98273	0.698957324028	0.66994	T	0.131452	0.46095	T	-0.1441	0.29240	T	-0.170466	0.57400	T	0.341553746903787	0.26685	T	0.950405	0.81010	D	0.67736775	0.76827	0.5236375	0.72478	0.67736775	0.76829	0.5236375	0.72479	-7.638	0.58875	D	.	.	0.183	0.39765	B	.;.;.;.;.;.	.;.;.;.;.;.	3.362172	0.46425	22.3	0.99541905764375094	0.70586	0.96640	0.70161	D	AEFGI	.	.	.	.	.	.	.	.	.	0.979235289672574	0.30006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.93	3.93	0.44666	6.166000	0.71739	6.141000	0.54053	0.509000	0.23192	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	14.473	0.67104	974	0.05496	.;Cadherin, N-terminal;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	6808.08	34	chrX	91835616	.	G	T	6808.08	.	AC=2;AF=0.048;AN=42;DP=899;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=59.96;QD=33.05;SOR=0.753	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1402	20	1	0	0
chrX	91878891	91878891	A	C	exonic	PCDH11X	.	nonsynonymous SNV	PCDH11X:NM_001168360:exon2:c.A2651C:p.N884T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.995	D	0.917	D	0.000	D	0.998	D	1.79	L	1.42	T	-0.877	T	0.153	T	0.466	1.955	12.49	5.16	1.706	8.621	13.187	0.266	0.118524091611	.	.	1.14e-05	0	0	0	0	2.085e-05	0	0	3.84e-05	1	26028	rs780054211	4.553e-06	4.553e-06	2.723e-06	8.252e-06	3.563e-06	1.33e-06	9.7e-07	9.5e-07	2.6e-07	0	0	0	0	0	0	3.563e-06	4.34e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.63226	D	0.004	0.74150	D	0.994	0.67487	D	0.864	0.65306	P	0.000000	0.84330	D	0.000000	0.997739	0.44143	D	2.495	0.72670	M	1.42	0.33189	T	-1.71	0.41239	N	0.51	0.61849	-0.8770	0.49997	T	0.153	0.48205	T	10	0.6541927	0.69777	D	0.118524	0.79859	D	0.266	0.57999	0.61	0.74300	0.786371371157	0.78439	0.45754749498961567	0.45672	2.2311931778	0.95933	0.528963983059	0.42888	T	0.033571	0.22968	T	-0.10016	0.36398	T	-0.381649	0.35528	T	0.955132842063904	0.64433	D	0.936306	0.76101	D	0.52184224	0.68365	0.43706784	0.67138	0.52184224	0.68366	0.43706784	0.67138	-9.294	0.73726	D	.	.	0.218	0.46915	B	.;.;.;.;.;.	.;.;.;.;.;.	2.533439	0.32760	19.14	0.99455982469437143	0.65530	0.98603	0.84589	D	AEFI	.	.	.	.	.	.	.	.	.	0.951290107565289	0.27948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.16	5.16	0.70563	8.660000	0.90867	9.034000	0.78599	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.752000	0.35857	1.0:0.0:0.0:0.0	13.187	0.59107	974	0.05496	.;Protocadherin;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	6688.08	33	chrX	91878891	.	A	C	6688.08	.	AC=2;AF=0.048;AN=42;DP=878;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=59.14;QD=34.83;SOR=0.779	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1360	20	1	0	0
chrX	97114819	97114819	A	G	exonic	DIAPH2	.	nonsynonymous SNV	DIAPH2:NM_006729:exon21:c.A2443G:p.I815V	Premature ovarian failure	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.003	B	0.000	N	0.601	N	-0.9	N	2.32	T	-0.996	T	0.013	T	0.086	-0.257	2.766	4.5	0.779	6.250	10.611	0.089	0.00857642868101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.109e-07	9.105e-07	0	2.753e-06	2.841e-05	0	0	.	.	0	2.841e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.08700	B	0.000051	0.53742	N	0.114260	0.601247	0.30939	N	-0.49	0.02651	N	2.32	0.16640	T	0.13	0.05503	N	0.137	0.13484	-0.9957	0.31109	T	0.013	0.05177	T	10	0.10447028	0.19262	T	0.008576	0.22680	T	0.089	0.25827	0.526	0.63115	0.294470080753	0.29051	0.15707408538366363	0.15628	0.399511255397	0.40976	0.447099298239	0.31548	T	0.091063	0.38719	T	-0.465193	0.00912	T	-0.905994	0.00461	T	0.677904546260834	0.39693	D	0.856914	0.54589	D	0.12729147	0.29791	0.0971755	0.23119	0.12729147	0.29790	0.0971755	0.23118	-1.767	0.02412	T	.	.	0.077	0.15251	B	.;.;.;.;.	.;.;.;.;.	2.495204	0.32200	18.97	0.54593527252072027	0.05169	0.95731	0.65914	D	AEFGI	.	.	.	.	.	.	.	.	.	0.992038220073657	0.32696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.66	4.5	0.54382	4.460000	0.59844	9.220000	0.79290	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9242:0.0:0.0758:0.0	10.611	0.44609	949	0.11373	Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain;.;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1136.98	33	chrX	97114819	.	A	G	1136.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.179e+00;DP=778;ExcessHet=0.0000;FS=4.012;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=-3.880e-01;SOR=0.392	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1072	20	0	1	0
chrX	100664867	100664867	C	T	exonic	SRPX2	.	nonsynonymous SNV	SRPX2:NM_014467:exon5:c.C449T:p.S150F,	.	.	0	1518	3	1	0	5	0.0016442	.	.	377656	not_provided|not_specified|Rolandic_epilepsy,_intellectual_disability,_and_speech_dyspraxia,_X-linked	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010388,MedGen:C1845070,OMIM:300643	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.127	B	0.083	B	0.154	N	1.000	N	1.435	L	-0.14	T	-0.950	T	0.163	T	0.357	1.946	12.47	4.73	1.073	0.220	4.878	0.163	0.0627504952078	9.5e-05	0.000264901	0.0005	0	0.0021	0	0	0.0004	0.0022	0	0.0003816	59	154602	rs373847965	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0008	0.0007	0	0.0011	0.0026	0	0	0.0012	7.368e-05	0.0006	9.322e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0001	7.683e-05	0	0	0.0002	0.0034	0.0003	0	0.0046	0.0002	0.0013	0	0.006	0.61437	D	0.014	0.62352	D	0.127	0.26966	B	0.083	0.29179	B	0.153935	0.17877	N	0.640667	0.999869	0.19989	N	1.505	0.38159	L	-0.14	0.65006	T	-3.53	0.68532	D	0.406	0.44666	-0.9503	0.40920	T	0.163	0.49914	T	9	0.013480395	0.00286	T	0.06275	0.68752	D	0.163	0.42028	.	.	0.453355646836	0.44958	0.42525068722281834	0.42442	0.184939252343	0.20789	0.342217087746	0.16769	T	0.138167	0.47150	T	-0.408549	0.02032	T	-0.433743	0.29512	T	0.0382147423945748	0.03370	T	0.370463	0.27458	T	0.39711672	0.60532	0.31958395	0.57919	0.39748743	0.60559	0.36123332	0.61550	-7.463	0.57350	T	0.13554341919651686	0.14741	0.128	0.45581	B	.;.;.	.;.;.	2.334736	0.29912	18.27	0.99433455512851532	0.64374	0.10539	0.16018	N	AEFBI	.	.	.	.	.	.	.	.	.	0.974002754219583	0.29504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.62	4.73	0.59485	0.285000	0.18642	4.736000	0.44580	0.599000	0.40250	0.000000	0.06391	1.000000	0.68203	0.999000	0.91618	0.1545:0.6127:0.1462:0.0866	4.878	0.13023	30	0.98208	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	3155.98	259	chrX	100664867	.	C	T	3155.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=1078;ExcessHet=0.0000;FS=1.500;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=-1.471e+00;SOR=0.580	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	20	0	1	0
chrX	100688421	100688423	TCT	-	exonic	SYTL4	.	nonframeshift deletion	SYTL4:NM_001174068:exon10:c.933_935del:p.E311del	.	.	432	1077	11	2	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0148	0.00317881	0.0015	0.0018	0.0023	0.0003	0.0012	0.0016	0.0036	0.0003	0.0006147	16	26028	rs200492084	0.0006	0.0013	0.0006	0.0005	0.0144	0.0005	0.0005	0.0114	0.0104	0.0004	0.0008	5.199e-05	3.324e-05	0.0009	0.0144	0.0005	0.0007	0.0003	0.0005	0.0005	0.0006	0.0003	0.0007	0.0004	0.0004	0.0006	0.0005	0.0002	0	0.0003	0	0	0.0007	0.0094	0.0007	0.0007	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2147.94	44	chrX	100688420	.	GTCT	G	2147.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.500e-01;DP=865;ExcessHet=0.0000;FS=1.468;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.52;ReadPosRankSum=0.600;SOR=0.846	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1039	20	0	1	0
chrX	100691153	100691153	C	T	exonic	SYTL4	.	nonsynonymous SNV	SYTL4:NM_001174068:exon6:c.G596A:p.S199N	.	.	436	1084	1	1	0	3	0.00138185	.	.	2374759	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.698	P	0.218	B	0.095	N	0.999	N	1.245	L	2.05	T	-0.989	T	0.141	T	0.042	2.067	12.87	3.49	1.139	1.340	6.786	0.034	0.0290453671406	.	.	3.221e-05	0	0	0	0	0	0.0047	0	2.59e-05	4	154602	rs765230684	4.837e-05	4.826e-05	3.812e-05	6.92e-05	0.0007	3.772e-05	3.421e-05	0.0005	0.0004	0	0	0	0.0007	2.476e-05	0	2.616e-05	8.691e-05	7.504e-05	2.681e-05	2.612e-05	3.856e-05	0	0.0006	7.13e-06	2.98e-06	0.0001	4.137e-05	0	0	0	0	0.0006	0	0	1.88e-05	0	0	0.197	0.25255	T	0.206	0.27056	T	0.698	0.41805	P	0.218	0.37679	B	0.094701	0.20160	N	0.595021	0.999755	0.21565	N	1.12	0.28775	L	2.02	0.64630	T	-1.02	0.26843	N	0.082	0.06854	-0.9887	0.32928	T	0.141	0.46202	T	9	0.0532054	0.05475	T	0.029045	0.51626	D	0.034	0.08419	0.2	0.11384	0.417208245017	0.41340	0.32737121445623707	0.32650	.	.	0.488585352898	0.37242	T	0.077757	0.35731	T	-0.502643	0.00552	T	-0.744453	0.03706	T	0.034040480140326	0.02645	T	0.585041	0.21854	T	0.20633006	0.42804	0.15200792	0.35782	0.20633006	0.42804	0.15200792	0.35781	-4.152	0.30428	T	.	.	0.082	0.11845	B	.;.;.;.	.;.;.;.	1.657499	0.21138	15.07	0.98114386789171948	0.38383	0.70147	0.34471	D	AEFGI	.	.	.	.	.	.	.	.	.	0.986608683360954	0.31093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.28	3.49	0.39065	1.359000	0.33717	1.721000	0.28260	0.549000	0.26987	0.996000	0.39380	0.920000	0.28304	0.944000	0.48669	0.0:0.7859:0.0:0.2141	6.786	0.22858	65	0.97253	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1169.98	40	chrX	100691153	.	C	T	1169.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.230e+00;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.83;ReadPosRankSum=-1.408e+00;SOR=0.767	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1071	20	0	1	0
chrX	100850218	100850218	G	A	exonic	NOX1	.	stopgain	NOX1:NM_001271815:exon8:c.C955T:p.R319X	.	.	436	1082	2	2	0	6	0.00276498	.	.	758198	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.001	N	1.000	A	.	.	.	.	.	.	.	.	.	4.633	25.4	-0.288	-0.459	3.703	4.623	0.118	.	9.5e-05	0.000794702	0.0002	0	0	0	0	4.199e-05	0.0016	0.0015	0.0002005	31	154602	rs369560908	0.0001	0.0001	9.801e-05	0.0002	0.0015	9.881e-05	9.279e-05	0.0012	0.0011	0	5.681e-05	0	0	0	0.0007	4.278e-05	0.0001	0.0015	8.936e-05	9.575e-05	7.711e-05	0.0001	0.0022	4.808e-05	3.684e-05	0.0010	0.0007	0	0	0	0	0	0	0	7.52e-05	0	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	0.001129	0.40136	N	0.167856	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.929	0.93370	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251737	0.78764	D	0.558747	0.95874	D	0.385967433452606	0.28411	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	7.111888	0.96155	35	0.99761020676472245	0.85091	0.86860	0.46235	D	AEFI	.	.	.	.	.	.	.	.	.	0.00384661828954709	0.10303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.87	-0.288	0.12218	3.953000	0.56407	0.693000	0.20782	0.618000	0.50648	1.000000	0.71638	0.168000	0.23319	0.993000	0.69303	0.1783:0.0:0.5225:0.2992	4.623	0.11852	89	0.96298	FAD-binding 8|FAD-binding domain, ferredoxin reductase-type;FAD-binding 8|FAD-binding domain, ferredoxin reductase-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	669.98	39	chrX	100850218	.	G	A	669.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.030e-01;DP=783;ExcessHet=0.0000;FS=0.875;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.48;ReadPosRankSum=-9.390e-01;SOR=0.529	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	20	0	1	0
chrX	100863573	100863573	G	A	exonic	NOX1	.	nonsynonymous SNV	NOX1:NM_007052:exon3:c.C164T:p.A55V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	2.855	M	-4.1	D	1.105	D	0.979	D	0.571	3.574	18.21	2.99	0.747	4.047	7.106	0.891	0.82296792257	0.0003	.	9.304e-05	0	0	0	0	0.0001	0	0.0001	0.0001035	16	154602	rs138268462	9.568e-05	9.743e-05	9.665e-05	9.373e-05	0.0015	8.054e-05	7.53e-05	0.0006	0.0004	0	2.848e-05	0.0009	0	0	0.0015	7.009e-05	0.0002	0.0002	6.331e-05	6.097e-05	5.143e-05	9.149e-05	7.548e-05	2.926e-05	2.087e-05	2.56e-05	1.486e-05	0	0	0	0.0011	0	0	0	7.548e-05	0	0	0.001	0.78490	D	0.004	0.76473	D	1.0	0.90584	D	0.996	0.84481	D	0.000008	0.62929	D	0.063546	0.999972	0.81001	D	3.23	0.89537	M	-4.1	0.99402	D	-3.2	0.69593	D	0.655	0.69737	1.105	0.99819	D	0.979	0.99339	D	10	0.44074252	0.58085	T	0.822968	0.98624	D	0.891	0.96873	.	.	0.889865992288	0.88877	0.7894174447553607	0.78893	0.205803190957	0.23002	0.514643073082	0.40872	T	0.685304	0.90799	D	0.138116	0.68146	D	0.220297	0.84187	D	0.539278833647242	0.34077	D	0.965603	0.88706	D	0.5560948	0.70294	0.6043171	0.77002	0.5560948	0.70295	0.6043171	0.77003	-6.615	0.51168	T	.	.	0.806	0.78969	P	.;.;.	.;.;.	3.916238	0.57146	23.8	0.99907618266491738	0.97801	0.89738	0.50397	D	AEFDBHCIJ	.	.	.	.	.	.	.	.	.	0.999841950198972	0.43971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.91	2.99	0.33673	4.349000	0.59163	5.258000	0.48113	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.1862:0.6189:0.1949	7.106	0.24545	79	0.96716	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1886.98	36	chrX	100863573	.	G	A	1886.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.290e-01;DP=858;ExcessHet=0.0000;FS=1.296;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.25;ReadPosRankSum=0.627;SOR=0.547	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	20	0	1	0
chrX	101269209	101269209	C	T	exonic	TAF7L	.	nonsynonymous SNV	TAF7L:NM_001168474:exon13:c.G1115A:p.R372H	.	.	2	1488	22	10	0	42	0.0139165	.	.	1196264	not_provided	MedGen:C3661900	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.55	T	0.462	P	0.056	B	0.158	N	1.000	N	0.345	N	2.51	T	-1.048	T	0.016	T	0.097	0.232	5.255	-8.67	-1.745	-0.476	4.451	0.019	.	0.0069	0.00476821	0.0065	0.0040	0.0023	0.0021	0.0004	0.0076	0.0191	0.0122	0.0066558	1029	154602	rs41310729	0.0090	0.0091	0.0090	0.0091	0.0518	0.0089	0.0088	0.0462	0.0440	0.0033	0.0038	0.0166	0.0013	0.0008	0.0518	0.0095	0.0105	0.0108	0.0072	0.0073	0.0073	0.0070	0.0134	0.0068	0.0067	0.0116	0.0109	0.0028	0	0.0134	0.0188	0.0028	0.0005	0.0691	0.0085	0.0125	0.0119	0.541	0.06802	T	0.57	0.09361	T	0.0	0.36386	B	0.0	0.26147	B	0.157777	0.03014	N	1.843890	1	0.08975	N	0.69	0.16971	N	2.51	0.22881	T	0.41	0.04456	N	0.017	0.00308	-1.0478	0.15016	T	0.016	0.06664	T	10	0.002762109	0.00043	T	.	.	.	0.019	0.03383	.	.	0.082315109003	0.07666	0.012499554851310974	0.01208	0.328917698921	0.35008	0.22695505619	0.01750	T	0.026244	0.19463	T	-0.840468	0.00003	T	-0.969662	0.00206	T	0.000724680391291421	0.00007	T	0.556944	0.20320	T	0.015645096	0.00150	0.031745635	0.01806	0.015645096	0.00150	0.031745635	0.01806	-3.2	0.12480	T	.	.	0.064	0.01762	B	.;.;.	.;.;.	-1.079520	0.00665	0.019	0.71253380426068835	0.09567	0.00356	0.01829	N	AEFGI	.	.	.	.	.	.	.	.	.	0.999645926751354	0.41316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.33	-8.67	0.00748	-0.483000	0.06616	-2.289000	0.03945	-1.021000	0.01731	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0979:0.4206:0.3362:0.1452	4.451	0.11041	124	0.95048	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1337.11	33	chrX	101269209	.	C	T	1337.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.357;DP=757;ExcessHet=0.1072;FS=1.435;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=0.718;SOR=0.538	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,1350	19	0	2	0
chrX	101490261	101490261	G	C	exonic	ARMCX4	.	nonsynonymous SNV	ARMCX4:NM_001256155:exon2:c.G1672C:p.A558P,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	-1.018	T	0.052	T	0.183	0.422	6.290	0.059	0.048	-0.081	2.746	0.020	0.017737179562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.6e-07	9.105e-07	0	2.934e-06	1.22e-06	0	0	.	.	0	0	0	0	0	0	1.22e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.8	0.25344	T	.	.	.	0.151	0.15469	-1.0178	0.24431	T	0.052	0.22076	T	4	0.082437515	0.13607	T	0.017737	0.39556	T	0.020	0.03691	.	.	0.18995819373	0.18626	0.19057574849772474	0.18975	.	.	0.26898920536	0.06010	T	.	.	.	-0.440627	0.01283	T	-0.870706	0.00736	T	0.197886496782303	0.20299	T	0.364964	0.08484	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.38941	B	.	.	1.800962	0.22893	15.80	0.84224674782475417	0.15168	0.09727	0.15418	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.782451526878275	0.23868	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.48	0.059	0.13644	-0.484000	0.06608	0.596000	0.19873	0.596000	0.33519	0.000000	0.06391	0.005000	0.19230	0.860000	0.40782	0.0994:0.1512:0.438:0.3114	2.746	0.04942	124	0.95048	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1878.98	76	chrX	101490261	.	G	C	1878.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.740e+00;DP=1313;ExcessHet=0.0000;FS=3.891;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.96;ReadPosRankSum=0.321;SOR=0.905	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	20	0	1	0
chrX	101493709	101493709	G	C	exonic	ARMCX4	.	nonsynonymous SNV	ARMCX4:NM_001256155:exon2:c.G5120C:p.G1707A,	.	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	-1.021	T	0.065	T	0.077	0.674	7.608	1.66	0.138	0.733	5.604	0.008	0.0196590180828	.	.	0.0005	0	0.0071	0	0	0	0	0.0007	5.82e-05	9	154602	rs782179958	5.565e-05	5.281e-05	3.994e-05	8.789e-05	0.0006	4.365e-05	3.991e-05	0.0004	0.0004	0	0	0	0	0	0.0002	2.685e-05	9.028e-05	0.0006	1.837e-05	1.743e-05	2.576e-05	0	3.821e-05	3.05e-06	1.14e-06	6.34e-06	2.37e-06	0	0	0	0	0	0	0	3.821e-05	0	0	.	.	.	0.188	0.28669	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.04	0.20808	T	.	.	.	0.092	0.07125	-1.0208	0.23454	T	0.065	0.26948	T	4	0.0077970326	0.00177	T	0.019659	0.42079	T	0.008	0.00669	.	.	0.233785782151	0.22967	0.06253017750064703	0.06193	.	.	0.41553580761	0.27222	T	.	.	.	-0.767088	0.00014	T	-0.976612	0.00189	T	0.0634528249502182	0.07700	T	0.540046	0.18281	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.26794	B	.	.	1.786345	0.22706	15.73	0.76339488687125712	0.11428	0.02638	0.07235	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.963182883306993	0.28673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.61	1.66	0.23081	0.497000	0.22222	0.895000	0.22503	0.502000	0.22824	0.002000	0.15269	0.979000	0.30280	0.963000	0.52385	0.1202:0.3875:0.4923:0.0	5.604	0.16652	124	0.95048	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2697.98	92	chrX	101493709	.	G	C	2697.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.88;DP=1454;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.49;ReadPosRankSum=1.25;SOR=0.690	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,118,1800	20	0	1	0
chrX	101625115	101625115	G	C	exonic	ARMCX3	.	nonsynonymous SNV	ARMCX3:NM_016607:exon5:c.G136C:p.V46L	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.207	B	0.064	B	0.599	N	0.998	N	0	N	1.85	T	-0.994	T	0.027	T	0.171	0.756	8.005	-0.409	-0.220	0.929	7.285	0.084	0.0424876158727	0.0005	.	0.0007	0	0.0001	0	0	0.0011	0.0034	0.0003	0.0006015	93	154602	rs138397719	0.0006	0.0006	0.0006	0.0006	0.0105	0.0006	0.0005	0.0080	0.0071	0.0002	0.0001	0.0143	0	0	0.0105	0.0003	0.0014	0.0002	0.0007	0.0007	0.0008	0.0004	0.0006	0.0006	0.0005	0.0002	0.0002	6.473e-05	0	0.0006	0.0158	0	0	0.0229	0.0004	0.0007	0	0.087	0.34269	T	0.403	0.29442	T	0.207	0.29891	B	0.064	0.27215	B	0.599039	0.10976	N	0.789182	0.997975	0.22416	N	0	0.06538	N	1.85	0.24472	T	-0.86	0.23372	N	0.044	0.01658	-0.9943	0.31485	T	0.027	0.11618	T	10	0.0060646236	0.00136	T	0.042488	0.60489	D	0.084	0.24469	0.185	0.09388	0.857571863565	0.85619	0.33212131245780385	0.33125	0.906011426275	0.70849	0.416168957949	0.27309	T	0.013736	0.11823	T	-0.575816	0.00204	T	-0.744887	0.03688	T	0.0170716625466473	0.00454	T	0.715628	0.32820	T	0.1546444	0.34992	0.14825931	0.35053	0.1546444	0.34991	0.14825931	0.35053	-3.668	0.18847	T	.	.	0.124	0.26074	B	.;.;.;.;.	.;.;.;.;.	1.731061	0.22032	15.45	0.90981191034055819	0.20231	0.55822	0.29961	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999609715831612	0.40866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.36	-0.409	0.11761	0.937000	0.28549	3.658000	0.39398	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.5642:0.0:0.4358:0.0	7.285	0.25507	124	0.95048	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1562.98	113	chrX	101625115	.	G	C	1562.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=807;ExcessHet=0.0000;FS=1.545;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=-4.400e-01;SOR=0.930	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1008	20	0	1	0
chrX	101883596	101883596	G	A	exonic	ZMAT1	.	nonsynonymous SNV	ZMAT1:NM_001011657:exon7:c.C1831T:p.R611C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.953	D	0.001	D	1.000	D	2.125	M	2.05	T	-0.793	T	0.171	T	0.474	3.547	18.09	4.27	2.359	4.903	13.526	0.160	0.229268478221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.826e-06	1.821e-06	2.725e-06	0	0.0002	3e-07	1.1e-07	.	.	0	0	0	3.315e-05	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000647	0.42656	D	0.083072	0.999381	0.47544	D	.	.	.	2.05	0.20664	T	-4.67	0.79571	D	0.28	0.31702	-0.7927	0.55572	T	0.171	0.51165	T	10	0.2957334	0.47141	T	0.229268	0.88176	D	0.160	0.41473	0.224	0.14813	0.256283259241	0.25257	0.16742256333870248	0.16662	0.476822862275	0.46802	0.312038600445	0.12214	T	.	.	.	-0.14706	0.28772	T	-0.449018	0.27806	T	0.994978845119476	0.86616	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.38281	B	.;.	.;.	4.296409	0.65560	24.8	0.99924105218931036	0.98980	0.93032	0.57154	D	AEFI	.	.	.	.	.	.	.	.	.	0.998494700696147	0.37071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.27	4.27	0.50009	3.969000	0.56523	6.267000	0.55357	0.667000	0.69007	0.998000	0.41325	1.000000	0.68203	0.965000	0.52897	0.0:0.0:1.0:0.0	13.526	0.61055	32	0.98147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1648.98	38	chrX	101883596	.	G	A	1648.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=895;ExcessHet=0.0000;FS=2.104;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.22;ReadPosRankSum=-2.410e-01;SOR=0.507	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1236	20	0	1	0
chrX	101898174	101898174	C	T	exonic	ZMAT1	.	nonsynonymous SNV	ZMAT1:NM_001011657:exon4:c.G275A:p.G92E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.995	D	0.873	P	0.464	N	0.963	D	2.005	M	2.38	T	-1.088	T	0.081	T	0.406	2.732	15.10	3.74	1.097	1.453	7.659	0.111	0.00722388377296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.40832	D	0.009	0.66756	D	.	.	.	.	.	.	0.463987	0.12357	N	0.699661	0.962758	0.38309	D	.	.	.	2.38	0.15843	T	-2.95	0.61580	D	0.268	0.30347	-1.0881	0.05856	T	0.081	0.32090	T	10	0.15611902	0.29409	T	0.007224	0.19143	T	0.111	0.31313	0.328	0.31196	0.0401082797425	0.02173	0.04282126577124279	0.04227	0.312588091171	0.33560	0.352336704731	0.18266	T	.	.	.	-0.245368	0.14673	T	-0.590231	0.13646	T	0.93881756067276	0.60974	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.46677	B	.;.	.;.	1.745482	0.22210	15.53	0.99138814745612602	0.53464	0.25062	0.22585	N	AEFGI	.	.	.	.	.	.	.	.	.	0.0181043727932258	0.13022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.6	3.74	0.42108	1.637000	0.36769	0.325000	0.17225	0.591000	0.32079	0.067000	0.21986	0.000000	0.08366	0.941000	0.48210	0.0:0.8828:0.0:0.1172	7.659	0.27561	31	0.98186	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2218.98	40	chrX	101898174	.	C	T	2218.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.812;DP=845;ExcessHet=0.0000;FS=3.309;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.41;ReadPosRankSum=0.181;SOR=1.059	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1082	20	0	1	0
chrX	102460725	102460725	-	A	exonic	TCP11X1;TCP11X2	.	frameshift insertion	TCP11X2:NM_001277423:exon10:c.1011dupT:p.L338Sfs*24	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.14e-05	1.275e-05	1.693e-05	0	0.0002	6.08e-06	4.8e-06	0.0001	8.259e-05	0	0	0	0	0	0.0002	1.221e-06	0	0.0002	1.765e-05	1.742e-05	2.57e-05	0	6.494e-05	2.93e-06	1.1e-06	1.075e-05	4.02e-06	6.494e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	505.94	33	chrX	102460725	.	G	GA	505.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.272;DP=885;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=33.48;MQRankSum=-1.818e+00;QD=2.78;ReadPosRankSum=0.425;SOR=0.740	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1288	20	0	1	0
chrX	102749722	102749722	C	G	exonic	ARMCX5-GPRASP2;BHLHB9	.	nonsynonymous SNV	BHLHB9:NM_001142530:exon2:c.C727G:p.P243A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.437	B	0.079	B	0.207	N	1.000	N	0	N	2.76	T	-0.954	T	0.011	T	0.145	0.411	6.234	2.66	0.582	0.138	5.547	0.010	0.024118779609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.487e-06	0.0004	8.183e-06	0	5.965e-06	1.97e-06	1.3e-06	1.75e-06	1.27e-06	0	0	0	0	0	0	5.965e-06	2.177e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.064	0.44905	T	0.437	0.35811	B	0.079	0.28749	B	0.207240	0.16453	N	0.512028	1	0.08975	N	2.77	0.80896	M	2.76	0.11515	T	-0.53	0.16393	N	0.107	0.10340	-0.9536	0.40345	T	0.011	0.04274	T	9	0.06706047	0.09288	T	0.024119	0.47104	T	0.010	0.01040	0.178	0.08503	0.107399877778	0.10242	0.12030608437628493	0.11957	0.214031236135	0.23940	0.31852465868	0.13198	T	0.00655	0.05980	T	-0.411924	0.01930	T	-0.829477	0.01271	T	0.0871273726224899	0.10873	T	0.59504	0.22051	T	0.03550824	0.04193	0.066455446	0.13616	0.03550824	0.04193	0.066455446	0.13616	-3.285	0.13545	T	.	.	0.076	0.06024	B	.;.;.;.;.	.;.;.;.;.	0.871581	0.12444	8.978	0.92577131756413855	0.22034	0.05718	0.11642	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.00102710266264549	0.08137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.5	2.66	0.30672	0.086000	0.14780	.	.	0.597000	0.34315	0.008000	0.17931	0.069000	0.22184	0.449000	0.27873	0.0:0.6932:0.1955:0.1113	5.547	0.16356	253	0.90069	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03846	106.6	33	chrX	102749722	.	C	G	106.6	.	AC=1;AF=0.038;AN=26;BaseQRankSum=-2.588e+00;DP=1241;ExcessHet=0.0000;FS=177.643;InbreedingCoeff=-0.1352;MLEAC=1;MLEAF=0.038;MQ=60.00;MQRankSum=0.00;QD=0.93;ReadPosRankSum=1.27;SOR=7.568	GT:AD:DP:GQ:PL	0/0:69,18:87:64:0,64,1265	12	0	1	8
chrX	102749723	102749723	C	G	exonic	ARMCX5-GPRASP2;BHLHB9	.	nonsynonymous SNV	BHLHB9:NM_001142530:exon2:c.C728G:p.P243R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	P	0.467	P	0.207	N	1.000	N	-0.345	N	2.77	T	-1.023	T	0.011	T	0.159	-0.102	3.501	0.643	-0.016	0.853	0.974	0.071	0.0208531724619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.463e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.008	0.67890	D	0.845	0.46707	P	0.467	0.46683	P	0.207240	0.16453	N	0.512028	1	0.08975	N	2.77	0.80896	M	2.77	0.11407	T	-0.32	0.12283	N	0.204	0.22742	-1.0229	0.22769	T	0.011	0.04369	T	9	0.10330346	0.18984	T	0.020853	0.43523	T	0.071	0.20720	0.179	0.08626	0.0986583533028	0.09354	0.1323248924144818	0.13157	0.398697379634	0.40922	0.338050365448	0.16146	T	0.012816	0.11196	T	-0.347705	0.04873	T	-0.73723	0.04008	T	0.203076422214508	0.20584	T	0.569643	0.20265	T	0.060111605	0.12295	0.08432909	0.19391	0.060111605	0.12295	0.08432909	0.19391	-3.4	0.15057	T	.	.	0.098	0.16363	B	.;.;.;.;.	.;.;.;.;.	2.108049	0.26822	17.25	0.95735756095129698	0.27684	0.05020	0.10801	N	AEFDGBI	.	.	.	.	.	.	.	.	.	4.13537104595771E-4	0.06899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.5	0.643	0.16942	1.132000	0.31031	.	.	0.597000	0.34315	0.008000	0.17931	0.030000	0.21233	0.540000	0.29938	0.1862:0.4232:0.1778:0.2128	0.974	0.01332	253	0.90069	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	100.71	33	chrX	102749723	.	C	G	100.71	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.935e+00;DP=1211;ExcessHet=0.0000;FS=73.077;InbreedingCoeff=-0.0548;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=0.82;ReadPosRankSum=1.36;SOR=6.272	GT:AD:DP:GQ:PL	0/0:54,0:54:4:0,4,1150	19	0	1	1
chrX	102937494	102937494	A	G	exonic	RAB40AL	.	nonsynonymous SNV	RAB40AL:NM_001031834:exon1:c.A176G:p.D59G,	.	.	0	1489	25	8	0	41	0.0135807	.	.	45690	not_provided|Deafness-intellectual_disability,_Martin-Probst_type_syndrome	MedGen:C3661900|MONDO:MONDO:0010353,MeSH:C564495,MedGen:C1845285,OMIM:300519,Orphanet:85321	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	U	1.000	D	1.69	L	-1.43	T	-0.122	T	0.523	D	0.343	3.940	20.1	0.779	0.560	3.667	5.606	0.545	0.00914952256515	0.0002	0.0015894	0.0048	0.0002	0.0015	0	0.0022	0.0074	0.0079	0.0037	0.0041073	635	154602	rs145606134	0.0057	0.0057	0.0056	0.0059	0.0116	0.0056	0.0055	0.0090	0.0081	0.0009	0.0021	0.0340	0	0.0019	0.0116	0.0058	0.0062	0.0037	0.0041	0.0041	0.0039	0.0044	0.0053	0.0038	0.0037	0.0048	0.0046	0.0006	0.0029	0.0036	0.0348	0	0.0015	0.0046	0.0053	0.0072	0.0027	0.0	0.91255	D	0.159	0.31527	T	1.0	0.90584	D	1.0	0.97372	D	0.000202	0.47681	U	0.000000	0.999725	0.48557	D	1.17	0.29769	L	-1.43	0.80730	T	-5.98	0.89334	D	0.114	0.10198	-0.1217	0.79595	T	0.523	0.82202	D	10	0.013548255	0.00287	T	0.00915	0.24059	T	0.545	0.81077	.	.	0.946209569742	0.94564	0.8151536628486657	0.81471	1.42694036343	0.85735	0.395712047815	0.24472	T	0.393944	0.75322	T	-0.3125	0.07530	T	-0.219049	0.52828	T	0.0529671403931466	0.06013	T	0.970603	0.89432	D	0.86647743	0.88585	0.78075004	0.87075	0.8872234	0.90271	0.78075004	0.87076	-9.044	0.67981	D	.	.	0.170	0.37407	B	.	.	3.214743	0.43774	21.8	0.9970586797448715	0.80936	0.68189	0.33708	D	AEFGI	.	.	.	.	.	.	.	.	.	0.0206921607590511	0.13282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.779	0.779	0.17694	3.121000	0.50131	.	.	0.587000	0.30956	1.000000	0.71638	0.997000	0.33255	0.978000	0.57271	0.9999:0.0:1.0E-4:0.0	5.606	0.16661	144	0.94257	Small GTP-binding protein domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	7129.98	33	chrX	102937494	.	A	G	7129.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.185;DP=1159;ExcessHet=0.0000;FS=1.732;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.05;MQRankSum=-8.480e-01;QD=20.03;ReadPosRankSum=-4.780e-01;SOR=0.800	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1406	20	0	1	0
chrX	102937495	102937495	C	A	exonic	RAB40AL	.	nonsynonymous SNV	RAB40AL:NM_001031834:exon1:c.C177A:p.D59E,	.	.	0	1489	25	8	0	41	0.0135807	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	1.0	D	1.0	D	0.000	U	0.996	D	0.95	L	-1.46	T	-0.417	T	0.431	T	0.117	3.269	16.97	-0.373	-0.179	0.577	5.090	0.407	0.00674651568241	9.5e-05	0.0015894	0.0048	0.0002	0.0015	0	0.0022	0.0073	0.0079	0.0037	0.0041009	634	154602	rs138133927	0.0057	0.0057	0.0056	0.0059	0.0116	0.0056	0.0056	0.0090	0.0081	0.0009	0.0021	0.0340	0	0.0019	0.0116	0.0058	0.0062	0.0037	0.0041	0.0041	0.0039	0.0044	0.0052	0.0038	0.0036	0.0047	0.0045	0.0006	0.0029	0.0036	0.0348	0	0.0015	0.0046	0.0052	0.0072	0.0027	0.186	0.21467	T	0.223	0.25670	T	1.0	0.90584	D	1.0	0.97372	D	0.000202	0.47681	U	0.000000	0.995827	0.42875	D	0.8	0.19659	N	-1.46	0.80983	T	-2.59	0.55821	D	0.079	0.05414	-0.4167	0.71497	T	0.431	0.77303	T	10	0.012709081	0.00272	T	0.006747	0.17840	T	0.407	0.71946	0.579	0.70476	0.837426278938	0.83587	0.644573263597182	0.64392	0.618518087764	0.56239	0.414517879486	0.27081	T	0.374216	0.73806	T	-0.550421	0.00290	T	-0.560806	0.16301	T	0.0864815356212415	0.10795	T	0.89531	0.63576	D	0.29524654	0.52475	0.22132494	0.46939	0.34425616	0.56615	0.22132494	0.46938	-7.072	0.54558	T	.	.	0.280	0.51271	B	.	.	2.272102	0.29044	18.00	0.99452021776926569	0.65325	0.51442	0.28896	D	AEFGI	.	.	.	.	.	.	.	.	.	0.0141870613087505	0.12564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.779	-0.373	0.11893	-0.262000	0.08706	.	.	-0.315000	0.05944	0.974000	0.34632	0.150000	0.23170	0.977000	0.56843	0.0:0.7394:0.0:0.2606	5.090	0.14040	144	0.94257	Small GTP-binding protein domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	7129.98	33	chrX	102937495	.	C	A	7129.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.81;DP=1158;ExcessHet=0.0000;FS=1.732;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.94;MQRankSum=-8.480e-01;QD=20.03;ReadPosRankSum=-4.340e-01;SOR=0.800	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1406	20	0	1	0
chrX	103310433	103310433	C	T	exonic	BEX2	.	nonsynonymous SNV	BEX2:NM_001168399:exon2:c.G16A:p.V6I	.	.	.	.	.	.	.	.	.	0.1941	0.356	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.154	B	0.032	B	.	.	0.783	N	0	N	2.79	T	-0.975	T	0.013	T	0.07	2.199	13.31	2.32	0.633	0.531	4.819	0.014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1465352402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.40832	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.29313	N	.	.	.	2.79	0.11189	T	-0.11	0.08653	N	0.224	0.25130	-0.9752	0.36082	T	0.013	0.05321	T	9	0.15440509	0.29125	T	0.015338	0.36015	T	0.014	0.01968	0.281	0.23642	0.123314135267	0.11883	0.01519891171370526	0.01475	0.175533902554	0.19762	0.581879675388	0.50350	T	.	.	.	-0.531417	0.00377	T	-1.00112	0.00137	T	0.187729850411415	0.19710	T	0.276672	0.04749	T	.	.	.	.	.	.	.	.	-3.821	0.21119	T	.	.	0.106	0.19679	B	.	.	0.997647	0.13759	10.30	0.99045252375720982	0.51118	0.11753	0.16839	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.999993846046691	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.39	2.32	0.27895	0.664000	0.24749	-0.295000	0.10161	-0.239000	0.07538	0.991000	0.37257	0.048000	0.21764	0.006000	0.07323	0.0:0.7789:0.0:0.2211	4.819	0.12745	272	0.89337	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1135.98	33	chrX	103310433	.	C	T	1135.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.342;DP=762;ExcessHet=0.0000;FS=0.691;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.88;ReadPosRankSum=0.410;SOR=0.616	GT:AD:DP:GQ:PL	0/0:18,0:18:42:0,42,630	20	0	1	0
chrX	103586685	103586685	C	A	exonic	TCEAL4	.	nonsynonymous SNV	TCEAL4:NM_001305841:exon2:c.C10A:p.L4I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.58	P	0.196	B	0.403	N	1.000	N	1.87	L	1.54	T	-0.930	T	0.255	T	0.222	1.136	9.630	0.679	0.040	-0.479	6.268	0.032	0.0159763224095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.42487	D	0.121	0.35840	T	0.58	0.38813	P	0.196	0.36635	B	0.403018	0.04546	N	1.440100	1	0.08975	N	2.625	0.76847	M	1.28	0.70717	T	-0.55	0.39119	N	0.155	0.30574	-0.9302	0.44109	T	0.255	0.62541	T	10	0.082316935	0.13574	T	0.015976	0.37005	T	0.032	0.07718	0.425	0.47021	0.488693090275	0.48504	0.00977782005791381	0.00939	0.533384031208	0.50776	0.45457008481	0.32569	T	0.021222	0.32106	T	-0.229836	0.16671	T	-0.56792	0.15641	T	0.188946217298508	0.19782	T	0.790321	0.43084	T	0.084568456	0.19579	0.089110285	0.20819	0.084568456	0.19579	0.089110285	0.20818	-3.946	0.22993	T	.	.	0.100	0.16973	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	0.998249	0.13765	10.31	0.95950147882909897	0.28270	0.03830	0.09175	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999986690793095	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.72	0.679	0.17141	-0.970000	0.03919	-1.696000	0.04897	0.591000	0.32079	0.000000	0.06391	0.000000	0.08366	0.924000	0.46004	0.1995:0.4167:0.3837:0.0	6.268	0.20148	428	0.80967	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2256.98	34	chrX	103586685	.	C	A	2256.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.028;DP=799;ExcessHet=0.0000;FS=0.716;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.52;ReadPosRankSum=-1.263e+00;SOR=0.820	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,105,1283	20	0	1	0
chrX	103586686	103586686	T	A	exonic	TCEAL4	.	nonsynonymous SNV	TCEAL4:NM_001305841:exon2:c.T11A:p.L4H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.996	D	0.819	P	0.403	N	1.000	N	2.215	M	1.45	T	-0.807	T	0.384	T	0.425	2.417	14.04	1.13	0.134	0.572	2.734	0.101	0.0346176519615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.084	0.65728	T	0.996	0.68779	D	0.819	0.59018	P	0.403018	0.04546	N	1.440100	1	0.08975	N	2.625	0.76847	M	1.19	0.71779	T	-3.07	0.84246	D	0.342	0.40063	-0.8074	0.54706	T	0.384	0.73966	T	10	0.13960657	0.26543	T	0.034618	0.55797	D	0.101	0.28911	0.408	0.44230	0.425367727682	0.42151	0.06533262432703364	0.06472	0.958584464153	0.72918	0.502022981644	0.39110	T	0.084313	0.57543	T	-0.0735326	0.40760	T	-0.343401	0.39959	T	0.714543640613556	0.41424	D	0.736326	0.35288	T	0.2736307	0.50430	0.32049438	0.58004	0.2736307	0.50430	0.32049438	0.58003	-5.483	0.41709	T	.	.	0.196	0.41798	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.467902	0.31802	18.85	0.97029382990004387	0.32059	0.04859	0.10595	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999987958242482	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.72	1.13	0.19758	0.023000	0.13424	0.159000	0.15383	0.656000	0.54149	0.000000	0.06391	0.000000	0.08366	0.916000	0.45140	0.2248:0.1275:0.0:0.6477	2.734	0.04911	428	0.80967	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2256.98	34	chrX	103586686	.	T	A	2256.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.378e+00;DP=799;ExcessHet=0.0000;FS=0.716;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.52;ReadPosRankSum=-1.399e+00;SOR=0.820	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,105,1283	20	0	1	0
chrX	103586735	103586735	T	G	exonic	TCEAL4	.	nonsynonymous SNV	TCEAL4:NM_001305841:exon2:c.T60G:p.N20K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.51	P	0.086	B	0.844	N	1.000	N	1.645	L	1.94	T	-1.049	T	0.104	T	0.133	1.631	11.41	-3.39	-0.875	-1.808	8.954	0.027	0.0125866129089	.	0.000794702	0.0003	0	0	0	0	0	0	0.0029	0.0001153	3	26028	rs763014665	0.0002	0.0002	0.0001	0.0003	0.0028	0.0001	0.0001	0.0024	0.0023	0	0	0	0	0	0.0005	5.938e-06	0.0002	0.0028	7.179e-05	7.861e-05	7.728e-05	5.917e-05	0.0030	3.481e-05	2.525e-05	0.0015	0.0011	0	0	0	0	0	0	0	0	0	0.0030	0.007	0.59928	D	0.135	0.55341	T	0.51	0.37313	P	0.086	0.29521	B	0.844289	0.09010	N	0.911729	1	0.08975	N	2.39	0.68882	M	1.81	0.57419	T	-2.16	0.78302	N	0.084	0.13911	-1.0489	0.14705	T	0.104	0.38243	T	10	0.0067048967	0.00152	T	0.012587	0.31297	T	0.027	0.05988	0.399	0.42753	0.350252656262	0.34631	0.01109401421881342	0.01070	0.577010703979	0.53645	0.401185393333	0.25234	T	0.021254	0.43140	T	-0.647618	0.00075	T	-0.70765	0.05418	T	0.0757827863542322	0.09439	T	0.385961	0.18695	T	0.21212882	0.43556	0.22775035	0.47795	0.21212882	0.43556	0.22775035	0.47794	-5.495	0.43300	T	.	.	0.279	0.51254	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	0.765511	0.11352	7.971	0.9669883292789031	0.30766	0.03502	0.08676	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999991649972333	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.72	-3.39	0.04563	-2.167000	0.01357	-4.426000	0.02162	0.656000	0.54149	0.000000	0.06391	0.000000	0.08366	0.986000	0.61781	0.0:0.433:0.0:0.567	8.954	0.34968	428	0.80967	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2529.08	34	chrX	103586735	.	T	G	2529.08	.	AC=2;AF=0.048;AN=42;DP=826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.22;SOR=0.768	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1283	20	1	0	0
chrX	103609267	103609269	AGC	-	exonic	TCEAL3	.	nonframeshift deletion	TCEAL3:NM_001006933:exon3:c.203_205del:p.Q69del	.	.	408	1113	1	0	0	1	0.000449035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.14e-05	0	0	0	0	2.084e-05	0	0	3.23e-05	5	154602	rs760176440	1.73e-05	1.73e-05	1.906e-05	1.375e-05	0.0002	1.106e-05	8.92e-06	9.825e-05	6.726e-05	0.0002	0.0001	0	0	0	0	9.5e-06	2.169e-05	0	8.95e-06	8.7e-06	0	2.949e-05	3.249e-05	0	0	.	.	3.249e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5656.05	33	chrX	103609266	.	AAGC	A	5656.05	.	AC=2;AF=0.048;AN=42;DP=847;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=59.56;QD=33.34;SOR=0.724	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	20	1	0	0
chrX	104250407	104250407	G	C	exonic	ESX1	.	nonsynonymous SNV	ESX1:NM_153448:exon4:c.C1042G:p.L348V,	.	.	570	929	18	1	4	24	0.0106496	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.0	B	0.0	B	.	.	1.000	N	-0.69	N	-0.43	T	-1.054	T	0.069	T	0.074	-1.629	0.013	-6.96	-3.341	-2.386	3.521	0.048	0.0111461699686	.	.	0.0015	0	0.0046	0.0018	0	0.0003	0	0.0093	0.0001537	4	26028	rs76090537	0.0012	0.0040	0.0017	0.0002	0.0403	0.0012	0.0011	0.0372	0.0359	0.0002	0.0040	0.0034	0.0403	0.0044	0.0006	0.0005	0.0018	0.0012	0.0014	0.0083	0.0019	0.0001	0.0308	0.0011	0.0010	0.0232	0.0205	0.0002	0	0.0008	0.0008	0.0308	0.0005	0	0.0007	0	0.0080	0.715	0.03984	T	0.775	0.04402	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.245	0.00777	N	-0.43	0.69657	T	-0.13	0.08971	N	0.037	0.01135	-1.0545	0.13172	T	0.069	0.28247	T	9	0.0045527816	0.00094	T	0.011146	0.28477	T	0.048	0.13305	0.295	0.25881	0.179529687257	0.17594	0.0501710872008618	0.04960	0.406424725356	0.41517	0.592590689659	0.51860	T	0.099879	0.40513	T	-0.740004	0.00021	T	-0.832294	0.01222	T	0.00590909445916991	0.00065	T	0.481052	0.14533	T	0.029580962	0.02476	0.046149902	0.06366	0.029580962	0.02476	0.046149902	0.06366	-1.595	0.01970	T	.	.	0.077	0.06571	B	.	.	-0.782163	0.01142	0.053	0.1363209158152989	0.00275	0.00257	0.01410	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999922702586134	0.46280	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.48	-6.96	0.01465	-0.563000	0.06034	-3.992000	0.02407	-2.493000	0.00266	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2748:0.4207:0.2014:0.1031	3.521	0.07301	478	0.77585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	348.37	12	chrX	104250407	.	G	C	348.37	.	AC=2;AF=0.125;AN=16;BaseQRankSum=1.04;DP=393;ExcessHet=0.0000;FS=5.229;InbreedingCoeff=0.2443;MLEAC=4;MLEAF=0.250;MQ=50.15;MQRankSum=0.126;QD=34.84;ReadPosRankSum=-1.645e+00;SOR=1.996	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:4,0:4:0:.:.:0,0,0	7	1	0	13
chrX	105749025	105749025	G	A	exonic	IL1RAPL2	.	nonsynonymous SNV	IL1RAPL2:NM_017416:exon9:c.G1114A:p.V372M,	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.868	P	0.38	B	0.025	N	1.000	N	2.135	M	3.61	T	-1.017	T	0.015	T	0.189	1.828	12.07	-0.374	-0.130	0.871	3.167	0.080	0.209931271415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.477e-06	5.463e-06	4.085e-06	8.311e-06	0.0002	1.97e-06	1.29e-06	.	.	0	0	0	0	0	0.0002	1.191e-06	8.701e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.011	0.64786	D	0.868	0.47740	P	0.38	0.43842	B	0.025268	0.26117	N	0.326018	1	0.08975	N	1.905	0.50856	L	3.61	0.04446	T	-1.17	0.29933	N	0.13	0.12484	-1.0168	0.24755	T	0.015	0.06282	T	10	0.15826747	0.29766	T	0.209931	0.87225	D	0.080	0.23350	0.465	0.53566	0.102598925029	0.09809	0.5863943473979755	0.58569	0.348927015905	0.36754	0.347879707813	0.17609	T	0.082683	0.36884	T	-0.392808	0.02580	T	-0.802018	0.01852	T	0.284237682819366	0.24349	T	0.849215	0.53152	T	0.07177818	0.15916	0.10454927	0.25113	0.07177818	0.15916	0.10454927	0.25113	-6.375	0.49314	T	.	.	0.233	0.46631	B	.;.	.;.	1.516757	0.19477	14.28	0.99678900793968828	0.79108	0.19397	0.20645	N	AEFI	.	.	.	.	.	.	.	.	.	0.00243051004727017	0.09418	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.82	-0.374	0.11890	0.916000	0.28273	1.406000	0.26239	0.676000	0.76740	0.422000	0.26346	0.784000	0.26805	0.755000	0.35964	0.274:0.1157:0.4947:0.1156	3.167	0.06149	53	0.97589	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1254.98	38	chrX	105749025	.	G	A	1254.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.274;DP=847;ExcessHet=0.0000;FS=2.403;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.55;ReadPosRankSum=1.52;SOR=0.962	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1146	20	0	1	0
chrX	105953052	105953052	G	A	exonic	NRK	.	nonsynonymous SNV	NRK:NM_198465:exon28:c.G4532A:p.R1511Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.978	D	0.665	P	0.003	N	1.000	N	-0.3	N	3.59	T	-0.971	T	0.008	T	0.245	0.533	6.885	4.92	2.487	3.627	3.678	0.141	0.100376736559	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310620401	9.333e-06	1.366e-05	9.605e-06	8.754e-06	7.712e-05	4.72e-06	3.44e-06	1.276e-05	4.77e-06	7.712e-05	0	0	0	0	0	4.85e-06	8.927e-05	0	8.936e-06	8.715e-06	1.286e-05	0	1.879e-05	0	0	.	.	0	0	0	0	0	0	0	1.879e-05	0	0	0.607	0.05517	T	1.0	0.24054	T	0.978	0.58756	D	0.665	0.52961	P	0.003268	0.35183	N	0.000000	0.963676	0.30849	N	0.22	0.09567	N	3.59	0.04544	T	1.29	0.01197	N	0.192	0.24510	-0.9712	0.36946	T	0.008	0.02801	T	10	0.17936581	0.33067	T	0.100377	0.77262	D	0.141	0.37795	0.671	0.80903	0.544616563029	0.54116	0.160381047828648	0.15959	.	.	0.340765118599	0.16553	T	0.069542	0.33736	T	-0.349545	0.04756	T	-0.739874	0.03896	T	0.19898120481026	0.20360	T	0.874313	0.58483	D	0.08465641	0.19604	0.06595036	0.13441	0.08465641	0.19604	0.06595036	0.13441	-3.059	0.10831	T	.	.	0.175	0.38227	B	.;.	.;.	3.529247	0.49512	22.8	0.36473162965347944	0.02348	0.80943	0.40455	D	AEFBI	.	.	.	.	.	.	.	.	.	0.0390535489101785	0.14376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.88	4.92	0.64147	4.684000	0.61374	6.479000	0.55733	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.3465:0.0:0.6535:0.0	3.678	0.07834	38	0.97995	Citron homology (CNH) domain|Citron homology (CNH) domain|Citron homology (CNH) domain;Citron homology (CNH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1176.98	35	chrX	105953052	.	G	A	1176.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=-2.140e+00;SOR=0.673	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1085	20	0	1	0
chrX	106034293	106034293	T	A	exonic	SERPINA7	.	nonsynonymous SNV	SERPINA7:NM_000354:exon4:c.A986T:p.Y329F,	.	YES	2	1517	3	0	0	3	0.000987817	.	.	24831	Thyroxine-binding_globulin,_Chicago	.	no_assertion_criteria_provided	Pathogenic	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.000	N	0.818	N	-3.675	N	-0.27	T	-0.936	T	0.028	T	0.728	-1.289	0.040	3.66	0.624	5.361	7.975	0.382	0.0566059415568	0.0020	0.000529801	0.0010	0.0006	0.0005	0	0	0.0017	0	0	0.0010737	166	154602	rs61754490	0.0019	0.0019	0.0020	0.0018	0.0024	0.0019	0.0018	0.0023	0.0023	0.0004	0.0006	5.168e-05	0	9.871e-05	0.0002	0.0024	0.0016	7.4e-05	0.0014	0.0014	0.0015	0.0013	0.0023	0.0012	0.0012	0.0019	0.0018	0.0004	0	0.0020	0	0	0.0002	0	0.0023	0.0019	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000101	0.51296	N	0.083097	0.182364	0.28923	A	-3.385	0.00004	N	-0.27	0.67367	T	2.23	0.00314	N	0.688	0.69387	-0.9365	0.43164	T	0.028	0.12147	T	10	0.08913022	0.15412	T	0.056606	0.66665	D	0.382	0.69946	.	.	0.445410361449	0.44164	0.43119119475649687	0.43036	0.0245168798745	0.02488	0.40752440691	0.26114	T	0.056876	0.30409	T	-0.278761	0.10799	T	-0.177501	0.56754	T	0.00294534273393923	0.00031	T	0.70313	0.31322	T	0.19905743	0.41831	0.084098995	0.19323	0.17466637	0.38283	0.07715687	0.17160	1.57	0.00077	T	0.021584080046921958	0.00009	0.058	0.00705	B	.;.	.;.	1.080636	0.14636	11.19	0.12283973687021817	0.00209	0.25158	0.22614	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.999961928858019	0.48965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.84	3.66	0.41111	5.511000	0.66742	8.442000	0.77197	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.853000	0.40368	0.7909:0.0:0.0:0.2091	7.975	0.29312	20	0.98525	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	839.98	34	chrX	106034293	.	T	A	839.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.37;DP=744;ExcessHet=0.0000;FS=3.186;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.83;ReadPosRankSum=0.484;SOR=0.511	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1030	20	0	1	0
chrX	106821996	106821996	G	A	exonic	TBC1D8B	.	nonsynonymous SNV	TBC1D8B:NM_017752:exon4:c.G380A:p.G127E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.028	B	0.025	B	0.000	D	1.000	D	0.315	N	3.25	T	-1.070	T	0.026	T	0.543	0.977	8.988	5.61	2.349	4.040	10.724	0.093	0.172439048508	.	.	1.173e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs747341691	9.121e-07	9.106e-07	0	2.76e-06	1.854e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.854e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.988	0.07048	T	1.0	0.01155	T	0.019	0.19712	B	0.025	0.20508	B	0.000046	0.53742	D	0.125363	0.999984	0.54805	D	0.69	0.16971	N	3.25	0.20255	T	-0.93	0.30762	N	0.176	0.25867	-1.0703	0.09348	T	0.026	0.11176	T	10	0.13226977	0.25175	T	0.172439	0.84942	D	0.093	0.26882	0.441	0.49648	0.220303561663	0.21668	0.5093646614819456	0.50858	0.104447900269	0.11818	0.754188656807	0.75065	T	0.030408	0.21564	T	-0.317853	0.07074	T	-0.537984	0.18495	T	0.183996594666775	0.19484	T	0.838216	0.51127	T	0.23744212	0.46608	0.30672336	0.56696	0.23744212	0.46608	0.30672336	0.56695	-5.17	0.39396	T	.	.	0.242	0.47676	B	.;.;.;.	.;.;.;.	3.631534	0.51449	23.1	0.82348952576753343	0.14146	0.94991	0.63042	D	AEFGI	.	.	.	.	.	.	.	.	.	0.998166884696514	0.36515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.61	5.61	0.85347	4.135000	0.57758	6.414000	0.55601	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0897:0.0:0.9103:0.0	10.724	0.45253	341	0.85936	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	831.98	35	chrX	106821996	.	G	A	831.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.47;DP=704;ExcessHet=0.0000;FS=1.172;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.64;ReadPosRankSum=0.505;SOR=0.948	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,866	20	0	1	0
chrX	106869505	106869505	A	T	exonic	TBC1D8B	.	stopgain	TBC1D8B:NM_017752:exon19:c.A2833T:p.K945X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	.	.	.	.	.	.	1.000	A	.	.	0.45	T	-1.025	T	0.047	T	.	5.217	33	4.59	1.903	1.423	7.886	0.066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284937	0.14876	N	0.635593	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.079	0.05414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.366207	0.87718	D	0.288255	0.87560	D	0.778249050167191	0.44941	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	7.239318	0.96303	35	0.98290743903168665	0.39945	0.38204	0.25935	N	AEFI	.	.	.	.	.	.	.	.	.	0.762507926143458	0.23534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.7	4.59	0.56297	1.443000	0.34668	6.015000	0.52706	0.756000	0.94297	0.914000	0.31788	1.000000	0.68203	0.963000	0.52385	0.7156:0.2844:0.0:0.0	7.886	0.28814	288	0.88579	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1075.08	33	chrX	106869505	.	A	T	1075.08	.	AC=2;AF=0.048;AN=42;DP=727;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.29;SOR=0.798	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,989	20	1	0	0
chrX	107545825	107545825	T	C	exonic	FRMPD3	.	nonsynonymous SNV	FRMPD3:NM_032428:exon6:c.T485C:p.V162A,	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.030	N	0.794	N	1.73	L	1.93	T	-0.973	T	0.091	T	0.293	2.498	14.31	4.83	2.088	5.888	10.686	0.083	0.028669019063	.	0.0013245	0.0002	0	0.0001	0.0008	0	2.426e-05	0.0019	0.0011	0.0002135	33	154602	rs138678310	5.219e-05	5.191e-05	3.406e-05	8.931e-05	0.0008	4.078e-05	3.724e-05	0.0005	0.0005	0	0	0	0.0008	0	0	3.582e-06	8.72e-05	0.0005	0.0001	0.0001	0.0001	8.792e-05	0.0022	6.102e-05	4.8e-05	0.0011	0.0008	0	0	0	0	0.0022	0	0	0	0	0.0015	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	0.029679	0.25420	N	0.392252	0.793873	0.29194	N	1.83	0.48079	L	1.93	0.22881	T	-3.4	0.67014	D	0.17	0.18103	-0.9729	0.36583	T	0.091	0.34710	T	8	0.019956738	0.00452	T	0.028669	0.51308	D	0.083	0.24192	.	.	0.544172096265	0.54071	0.400329796995948	0.39947	0.160037289134	0.18055	.	.	.	0.077605	0.36659	T	-0.504852	0.00537	T	-0.543513	0.17954	T	0.172954783850779	0.18779	T	0.588541	0.21576	T	0.52183765	0.68365	0.5555045	0.74291	0.52183765	0.68366	0.5555045	0.74292	-5.201	0.38952	T	.	.	0.197	0.41962	B	.;.	.;.	3.063472	0.41146	21.3	0.99654735504151826	0.77505	0.93039	0.57172	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.998045561928054	0.36353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.17	4.83	0.61880	5.927000	0.69800	1.780000	0.28708	0.665000	0.62972	1.000000	0.71638	0.947000	0.28924	0.914000	0.44937	0.0:0.0891:0.0:0.9109	10.686	0.45039	33	0.98110	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2366.08	37	chrX	107545825	.	T	C	2366.08	.	AC=2;AF=0.048;AN=42;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.33;SOR=0.855	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1248	20	1	0	0
chrX	107597479	107597479	C	T	exonic	FRMPD3	.	nonsynonymous SNV	FRMPD3:NM_032428:exon15:c.C1699T:p.R567W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	0.000	D	0.572	D	1.245	L	0.45	T	-0.488	T	0.204	T	0.69	3.457	17.71	4.93	2.283	2.901	16.205	0.211	0.109442736658	.	.	1.217e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs759367486	5.468e-06	5.463e-06	4.087e-06	8.26e-06	6.621e-05	1.97e-06	1.29e-06	1.096e-05	4.1e-06	0	0	5.159e-05	6.621e-05	0	0	3.563e-06	0	0	8.94e-06	8.706e-06	1.285e-05	0	0.0003	0	0	.	.	0	0	0	0	0.0003	0	0	0	0	0	0.0	0.91255	D	0.005	0.72224	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.571527	0.32298	D	1.845	0.48678	L	0.45	0.56446	T	-4.25	0.76094	D	0.549	0.57518	-0.4881	0.69076	T	0.204	0.56211	T	8	0.24577779	0.41831	T	0.109443	0.78642	D	0.211	0.50185	0.301	0.26843	0.785258546633	0.78327	0.6892807479588642	0.68868	0.538728098851	0.51120	.	.	.	0.061882	0.31929	T	-0.112864	0.34296	T	-0.140218	0.60099	T	0.717216255817668	0.41559	D	0.916808	0.70203	D	0.82543737	0.85588	0.78998727	0.87645	0.82543737	0.85589	0.78998727	0.87646	-5.552	0.42351	T	.	.	0.385	0.58785	A	.;.	.;.	4.842914	0.79077	27.0	0.99920112819190654	0.98721	0.97945	0.78327	D	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999204712522615	0.38742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.93	4.93	0.64394	2.958000	0.48838	5.921000	0.51166	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	16.205	0.81944	26	0.98304	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1401.98	37	chrX	107597479	.	C	T	1401.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.433;DP=809;ExcessHet=0.0000;FS=3.290;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=-2.130e-01;SOR=0.755	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1150	20	0	1	0
chrX	107602107	107602107	C	G	exonic	FRMPD3	.	nonsynonymous SNV	FRMPD3:NM_032428:exon16:c.C4167G:p.S1389R,	.	.	429	1080	11	2	0	15	0.00689655	.	.	1676622	Low-frequency_hearing_loss|Low-frequency_sensorineural_hearing_impairment	Human_Phenotype_Ontology:HP:0008542,MedGen:C0271514|Human_Phenotype_Ontology:HP:0008573,MedGen:C3810445	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.04	D	.	.	.	.	0.000	U	0.998	N	0.805	L	1.47	T	-1.056	T	0.056	T	0.441	1.930	12.41	2.23	0.221	0.054	7.038	0.127	0.0652383126068	.	0.000794702	0.0007	0.0001	0.0002	0	0	0.0004	0.0018	0.0044	0.0006921	107	154602	rs183198624	0.0008	0.0008	0.0008	0.0009	0.0038	0.0007	0.0007	0.0034	0.0032	0.0002	0.0002	0	0	2.524e-05	0.0017	0.0007	0.0008	0.0038	0.0004	0.0004	0.0004	0.0005	0.0038	0.0003	0.0003	0.0021	0.0016	9.667e-05	0	0.0004	0	0	0.0002	0.0046	0.0005	0	0.0038	0.0	0.91255	D	0.063	0.45530	T	.	.	.	.	.	.	0.000006	0.62929	U	0.082167	0.997733	0.22531	N	1.04	0.26193	L	1.45	0.32482	T	-2.6	0.55983	D	0.14	0.13911	-1.0557	0.12855	T	0.056	0.23527	T	8	0.007292986	0.00166	T	0.065238	0.69520	D	0.127	0.34888	0.218	0.13932	0.608580257953	0.60543	0.67164521694929	0.67102	0.569153236508	0.53102	.	.	.	0.023209	0.23671	T	-0.536247	0.00353	T	-0.545794	0.17731	T	0.083960442782192	0.10486	T	0.920008	0.71084	D	0.8340422	0.86185	0.5758274	0.75426	0.8340422	0.86187	0.5758274	0.75427	-6.226	0.48133	T	.	.	0.982	0.91596	P	.;.	.;.	3.071420	0.41283	21.3	0.99764940187147133	0.85417	0.92405	0.55636	D	AEFBI	.	.	.	.	.	.	.	.	.	0.00421815359590133	0.10461	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.05	2.23	0.27189	0.104000	0.15148	1.898000	0.29563	0.547000	0.25779	0.969000	0.34210	1.000000	0.68203	0.976000	0.56436	0.0:0.5763:0.0:0.4237	7.038	0.24184	26	0.98304	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3485.08	34	chrX	107602107	.	C	G	3485.08	.	AC=2;AF=0.048;AN=42;DP=832;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.29;SOR=0.932	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1398	20	1	0	0
chrX	107794245	107794245	T	C	exonic	NCBP2L	.	nonsynonymous SNV	NCBP2L:NM_001348372:exon2:c.T25C:p.C9R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	.	.	.	.	0.007	N	1.000	N	.	.	.	.	-1.065	T	0.042	T	0.115	-0.021	3.906	-9.56	-2.899	-3.717	3.084	0.008	0.000372224422232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.557e-06	4.371e-06	7.153e-06	0	4.017e-06	7.6e-07	2.8e-07	.	.	0	0	0	0	0	0	4.017e-06	4.16e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.08594	T	.	.	.	.	.	.	0.006998	0.01149	N	2.752130	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.102	0.08506	-1.0645	0.10666	T	0.042	0.18076	T	6	0.047743827	0.04132	T	3.72E-4	0.00054	T	.	.	.	.	0.0138822411134	0.00435	0.3450711388229616	0.34421	0.0424176791749	0.04572	.	.	.	0.008453	0.07757	T	-0.55146	0.00286	T	-1.02991	0.00090	T	0.0664204061031342	0.08139	T	0.184382	0.01906	T	0.18315117	0.39568	0.16289788	0.37816	0.18315117	0.39568	0.16289788	0.37816	-2.078	0.03490	T	.	.	0.084	0.09868	B	.;.	.;.	-2.155528	0.00071	0.001	0.46559686030614506	0.03739	0.00800	0.03259	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999995615661648	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.78	-9.56	0.00476	-3.678000	0.00444	-7.883000	0.01068	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2968:0.1009:0.0873:0.5149	3.084	0.05894	13	0.98894	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	889.98	93	chrX	107794245	.	T	C	889.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.030e-01;DP=1086;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.36;ReadPosRankSum=-9.600e-02;SOR=0.649	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1288	20	0	1	0
chrX	107794614	107794614	G	T	exonic	NCBP2L	.	nonsynonymous SNV	NCBP2L:NM_001348372:exon2:c.G394T:p.V132L,	.	.	433	1087	1	1	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	0.000	N	0.998	D	.	.	-0.81	T	-0.476	T	0.381	T	0.074	2.379	13.91	1.23	-0.004	3.311	5.268	0.248	0.0615954431026	.	.	9.761e-05	0	0.0001	0	0	6.726e-05	0	0.0004	9.06e-05	14	154602	rs765806781	9.42e-05	9.399e-05	5.252e-05	0.0002	0.0007	7.093e-05	6.401e-05	0.0005	0.0004	0	0	0	0	0	0	3.515e-05	0.0002	0.0007	4.502e-05	4.353e-05	3.856e-05	6.014e-05	0.0008	1.716e-05	1.056e-05	0.0001	5.646e-05	0	0	0	0	0	0	0	5.658e-05	0	0.0008	.	.	.	0.018	0.59732	D	.	.	.	.	.	.	0.000268	0.46590	N	0.141450	0.998275	0.44710	D	.	.	.	.	.	.	.	.	.	0.018	0.00252	-0.4758	0.69519	T	0.381	0.73751	T	7	0.17137721	0.31853	T	0.061595	0.68382	D	.	.	.	.	0.0920862733494	0.08535	0.1665284789261722	0.16572	0.0312905223843	0.03243	.	.	.	0.29604	0.66868	T	-0.262851	0.12569	T	-0.258966	0.48927	T	0.368434935808182	0.27737	T	0.924308	0.72323	D	0.14514673	0.33285	0.13907897	0.33196	0.14514673	0.33284	0.13907897	0.33195	-7.871	0.60187	D	.	.	0.117	0.24123	B	.;.	.;.	1.192009	0.15836	12.14	0.92230992226364428	0.21607	0.95943	0.66827	D	AEFBI	.	.	.	.	.	.	.	.	.	0.124085938104106	0.16950	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.05	1.23	0.20358	3.756000	0.54917	0.578000	0.19676	0.676000	0.76740	1.000000	0.71638	0.001000	0.17328	0.010000	0.09038	0.2674:0.1469:0.5857:0.0	5.268	0.14924	13	0.98894	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1331.98	36	chrX	107794614	.	G	T	1331.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.890e-01;DP=861;ExcessHet=0.0000;FS=1.454;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.57;ReadPosRankSum=0.167;SOR=0.549	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1288	20	0	1	0
chrX	107981733	107981733	G	C	exonic	TEX13B	.	nonsynonymous SNV	TEX13B:NM_031273:exon2:c.C395G:p.T132S,	.	.	426	1040	29	27	0	83	0.0383726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.473	P	0.19	B	.	.	1.000	N	0.85	L	.	.	-1.044	T	0.038	T	0.103	0.978	8.993	0.013	-0.145	0.534	2.812	0.034	.	0.0041	0.00715232	0.0107	0.0017	0.0012	0.0002	0.0208	0.0093	0.0230	0.0409	0.0098964	1530	154602	rs144538520	0.0074	0.0074	0.0067	0.0090	0.0357	0.0073	0.0072	0.0343	0.0338	0.0008	0.0011	0.0011	6.626e-05	0.0207	0.0136	0.0059	0.0069	0.0357	0.0059	0.0060	0.0054	0.0071	0.0334	0.0055	0.0054	0.0277	0.0256	0.0008	0	0.0027	0.0008	0.0003	0.0220	0.0183	0.0070	0.0046	0.0334	0.055	0.38407	T	0.072	0.43344	T	0.473	0.36591	P	0.19	0.36341	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	.	.	.	-1.94	0.45042	N	0.064	0.03613	-1.0435	0.16265	T	0.038	0.16505	T	8	0.0036247373	0.00066	T	.	.	.	0.034	0.08419	0.141	0.04462	.	.	0.05130291475236664	0.05072	0.454918704517	0.45175	0.351358294487	0.18122	T	0.014065	0.12045	T	-0.758781	0.00015	T	-0.836951	0.01145	T	0.004441021523127	0.00047	T	0.354465	0.08000	T	0.07995067	0.18293	0.07362963	0.16021	0.07995067	0.18293	0.07362963	0.16021	-6.018	0.46431	T	.	.	0.203	0.42720	B	.	.	-0.130754	0.03462	0.642	0.62979613999287676	0.07103	0.05061	0.10852	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00245125484351227	0.09445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.89	0.013	0.13417	0.707000	0.25379	-0.649000	0.08038	-0.139000	0.12461	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.3637:0.0:0.4321:0.2042	2.812	0.05111	18	0.98631	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2557.98	42	chrX	107981733	.	G	C	2557.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=947;ExcessHet=0.0000;FS=1.038;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=-1.694e+00;SOR=0.606	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	20	0	1	0
chrX	108072811	108072811	G	A	exonic	VSIG1	.	nonsynonymous SNV	VSIG1:NM_182607:exon4:c.G547A:p.V183M	.	.	438	1078	5	1	0	7	0.00323625	.	.	3342288	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.25	T	0.995	D	0.786	P	0.432	N	1.000	N	1.12	L	2.4	T	-0.985	T	0.053	T	0.074	1.361	10.48	-6.25	-1.728	-0.437	11.157	0.075	0.00522759005551	0.0005	0.000264901	0.0005	0.0001	0.0004	0	0	0.0008	0.0016	0.0001	0.0005175	80	154602	rs150942663	0.0004	0.0004	0.0004	0.0005	0.0070	0.0004	0.0004	0.0050	0.0043	0.0003	0.0002	0.0006	3.311e-05	7.408e-05	0.0070	0.0004	0.0008	7.391e-05	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	3.289e-05	0	0.0003	0.0008	0.0003	0	0.0092	0.0005	0.0007	0	0.038	0.42783	D	0.008	0.67890	D	0.989	0.62824	D	0.782	0.57384	P	0.432005	0.04710	N	1.356490	1	0.08975	N	0.205	0.09354	N	2.4	0.15608	T	-0.59	0.17624	N	0.033	0.01347	-0.9851	0.33808	T	0.053	0.22578	T	10	0.016896963	0.00358	T	0.005228	0.13341	T	0.075	0.21907	.	.	0.115124310173	0.11017	0.2939831899185672	0.29311	0.222785392299	0.24815	0.31012481451	0.11925	T	0.023958	0.18193	T	-0.811965	0.00006	T	-1.02214	0.00101	T	0.0358553899030906	0.02955	T	0.711229	0.32236	T	0.045176454	0.07349	0.079315335	0.17843	0.045176454	0.07348	0.079315335	0.17843	-5.511	0.43129	T	.	.	0.128	0.27343	B	.;.	.;.	-0.044309	0.03985	0.902	0.99124792463138089	0.53089	0.00326	0.01707	N	AEFDBIJ	.	.	.	.	.	.	.	.	.	0.999994820406609	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.25	-6.25	0.01863	-0.294000	0.08346	0.158000	0.15372	-0.907000	0.02291	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.7703:0.0:0.1229:0.1069	11.157	0.47720	77	0.96778	.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1705.98	34	chrX	108072811	.	G	A	1705.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.47;DP=820;ExcessHet=0.0000;FS=6.926;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=2.84;SOR=1.280	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1277	20	0	1	0
chrX	108159632	108159632	C	T	exonic	COL4A6	.	nonsynonymous SNV	COL4A6:NM_001287760:exon42:c.G4471A:p.A1491T	.	.	0	1513	8	1	0	10	0.00329381	.	.	971170	COL4A6-related_disorder|Hearing_loss,_X-linked_6|not_provided	.|MONDO:MONDO:0010484,MedGen:C3806737,OMIM:300914,Orphanet:90625|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.998	D	0.001	D	1.000	D	2.46	M	-1.63	D	0.479	D	0.720	D	0.744	3.711	18.85	5.06	2.440	7.740	18.237	0.748	0.150641491302	.	.	0.0001	0	0	0.0002	0	0.0001	0	0.0005	0.00011	17	154602	rs766360534	4.917e-05	4.917e-05	4.9e-05	4.951e-05	0.0007	3.851e-05	3.45e-05	0.0003	0.0002	0	5.681e-05	0	6.622e-05	0	0.0007	2.731e-05	4.339e-05	0.0004	2.672e-05	2.613e-05	1.285e-05	5.801e-05	0.0004	7.1e-06	2.97e-06	.	.	0	0	0	0	0	0	0	1.879e-05	0.0007	0.0004	0.003	0.68238	D	0.01	0.66756	D	1.0	0.90584	D	0.993	0.88582	D	0.000745	0.42006	D	0.000000	0.999997	0.58761	D	2.425	0.70256	M	-1.63	0.82440	D	-3.28	0.67241	D	0.418	0.57860	0.479	0.90249	D	0.720	0.90386	D	10	0.2763505	0.45197	T	0.150641	0.83230	D	0.748	0.91328	0.762	0.89053	0.848369474167	0.84691	0.6729600340067433	0.67234	0.190246609254	0.21341	0.615258216858	0.55058	T	0.664135	0.89956	D	0.0644454	0.60168	T	0.167174	0.81240	D	0.238515871040428	0.22350	T	0.937806	0.76632	D	0.48596403	0.66260	0.61991	0.77861	0.48596403	0.66261	0.61991	0.77862	-6.735	0.52073	T	.	.	0.136	0.29642	B	.;.;.;.;.;.	.;.;.;.;.;.	3.962169	0.58118	23.9	0.99718338485904323	0.81843	0.98362	0.82008	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999999992476	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.06	5.06	0.67838	7.905000	0.86479	3.645000	0.39359	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.891000	0.42908	0.0:1.0:0.0:0.0	18.237	0.89888	96	0.96030	.;Collagen IV, non-collagenous|Collagen IV, non-collagenous|Collagen IV, non-collagenous;Collagen IV, non-collagenous|Collagen IV, non-collagenous|Collagen IV, non-collagenous;Collagen IV, non-collagenous|Collagen IV, non-collagenous|Collagen IV, non-collagenous;Collagen IV, non-collagenous|Collagen IV, non-collagenous|Collagen IV, non-collagenous;Collagen IV, non-collagenous|Collagen IV, non-collagenous|Collagen IV, non-collagenous	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3751.08	36	chrX	108159632	.	C	T	3751.08	.	AC=2;AF=0.048;AN=42;DP=836;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.79;SOR=0.798	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1155	20	1	0	0
chrX	108591181	108591181	C	A	exonic	COL4A5	.	nonsynonymous SNV	COL4A5:NM_000495:exon20:c.C1289A:p.A430D,	Alport syndrome, X-linked dominant	.	2	1498	17	5	0	27	0.00893152	.	.	257736	X-linked_Alport_syndrome|not_provided|not_specified	MONDO:MONDO:0010520,MedGen:C4746986,OMIM:301050,Orphanet:63,Orphanet:88917|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.65	T	0.009	B	0.012	B	0.249	N	0.979	N	0.85	L	-3.28	D	-0.523	T	0.554	D	0.265	1.273	10.16	4.38	0.985	1.058	15.065	0.202	.	0.0045	0.00238411	0.0047	0.0002	0.0011	0	0.0117	0.0061	0.0142	0.0046	0.0001921	5	26028	rs142883891	0.0053	0.0053	0.0053	0.0051	0.0055	0.0052	0.0051	0.0054	0.0053	0.0005	0.0015	0.0091	0	0.0099	0.0017	0.0055	0.0053	0.0043	0.0042	0.0043	0.0041	0.0044	0.0058	0.0039	0.0037	0.0053	0.0051	0.0007	0	0.0016	0.0098	0	0.0135	0	0.0058	0.0033	0.0022	0.286	0.15201	T	0.511	0.10785	T	0.009	0.15093	B	0.012	0.16012	B	0.249368	0.15543	N	0.644275	0.978792	0.25225	N	0.14	0.08730	N	-3.28	0.93691	D	-1.5	0.37178	N	0.07	0.10911	-0.5234	0.67788	T	0.554	0.83677	D	10	0.00821501	0.00186	T	.	.	.	0.202	0.48754	.	.	0.559495123731	0.55609	0.3683802809472808	0.36752	0.448282245212	0.44661	0.394535541534	0.24306	T	0.470857	0.80380	T	-0.333489	0.05851	T	-0.249615	0.49854	T	0.0178019984298685	0.00509	T	0.754725	0.42156	T	0.43869984	0.63319	0.45109886	0.68061	0.68039614	0.76992	0.42935047	0.66620	-5.543	0.42462	T	0.1562111721160591	0.18777	0.113	0.22318	B	.;.;.	.;.;.	1.783708	0.22680	15.72	0.95481381978651925	0.27044	0.18606	0.20329	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.929202291356721	0.26959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.26	4.38	0.52019	1.889000	0.39352	2.597000	0.33501	0.549000	0.26987	0.019000	0.19563	0.999000	0.35428	0.997000	0.79791	0.0:0.8612:0.1388:0.0	15.065	0.71656	235	0.90838	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1376.98	33	chrX	108591181	.	C	A	1376.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.22;DP=773;ExcessHet=0.0000;FS=0.785;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.49;ReadPosRankSum=0.904;SOR=0.833	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1122	20	0	1	0
chrX	108597067	108597067	C	A	exonic	COL4A5	.	nonsynonymous SNV	COL4A5:NM_000495:exon23:c.C1586A:p.P529Q,	Alport syndrome, X-linked dominant	YES	.	.	.	.	.	.	.	0.0026	0.076	1159280	not_provided|X-linked_Alport_syndrome	MedGen:C3661900|MONDO:MONDO:0010520,MedGen:C4746986,OMIM:301050,Orphanet:63,Orphanet:88917	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.14	T	0.739	P	0.459	P	0.004	N	1.000	D	1.115	L	-3.03	D	0.430	D	0.696	D	0.496	1.515	11.02	4.89	1.994	1.263	17.246	0.533	0.143737840127	.	.	9.367e-05	0	0	0	0	0	0	0.0006	6.47e-05	10	154602	rs758983710	4.18e-05	4.189e-05	2.059e-05	8.617e-05	0.0008	3.186e-05	2.844e-05	0.0006	0.0005	0	0	0	0	0	0	0	6.637e-05	0.0008	9.014e-06	8.721e-06	1.287e-05	0	0.0004	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.274	0.18246	T	0.05	0.48080	T	0.739	0.42933	P	0.459	0.46380	P	0.004278	0.33923	N	0.283481	0.999884	0.50402	D	1.915	0.51223	L	-3.03	0.92307	D	-2.74	0.58248	D	0.111	0.19190	0.430	0.89539	D	0.696	0.89506	D	10	0.28137165	0.45714	T	0.143738	0.82604	D	0.533	0.80367	0.569	0.69167	0.77710244213	0.77505	0.25295174549652055	0.25209	0.278847348967	0.30363	0.323997169733	0.14027	T	0.820674	0.95612	D	-0.16873	0.25426	T	-0.119352	0.61857	T	0.210765333415545	0.20993	T	0.890111	0.67274	D	0.21863261	0.44376	0.2853957	0.54542	0.21863261	0.44376	0.2853957	0.54541	-6.244	0.48730	T	0.2241154729131657	0.30262	0.072	0.10014	B	.;.;.	.;.;.	1.816667	0.23087	15.88	0.90535169116662362	0.19791	0.76408	0.37471	D	AEFBI	.	.	.	.	.	.	.	.	.	0.994946986508792	0.33875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.89	4.89	0.63387	1.339000	0.33489	2.885000	0.35353	0.599000	0.40250	0.057000	0.21666	0.996000	0.32793	0.899000	0.43558	0.0:1.0:0.0:0.0	17.246	0.86911	235	0.90838	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1804.98	33	chrX	108597067	.	C	A	1804.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.999;DP=830;ExcessHet=0.0000;FS=1.393;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.99;ReadPosRankSum=-1.084e+00;SOR=0.840	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1127	20	0	1	0
chrX	109465204	109465204	A	G	exonic	GUCY2F	.	nonsynonymous SNV	GUCY2F:NM_001522:exon3:c.T970C:p.Y324H,	.	.	438	1073	6	5	0	16	0.00740056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.368	B	0.201	B	0.000	D	0.998	D	1.73	L	-1.76	D	-0.191	T	0.441	T	0.303	1.286	10.21	4.18	1.852	1.658	10.547	0.365	0.0853084875989	0.0009	0.0018543	0.0017	0.0002	0.0003	0	0	0.0013	0.0016	0.0083	0.0017658	273	154602	rs73248160	0.0018	0.0018	0.0017	0.0022	0.0101	0.0018	0.0017	0.0094	0.0091	7.586e-05	0.0004	5.163e-05	0	4.934e-05	0.0041	0.0016	0.0015	0.0101	0.0010	0.0010	0.0010	0.0011	0.0112	0.0009	0.0008	0.0080	0.0070	0.0002	0	0.0004	0	0	0	0	0.0014	0.0007	0.0112	0.256	0.16793	T	0.245	0.24054	T	0.368	0.34048	B	0.201	0.36881	B	0.000003	0.62929	D	0.062165	0.997681	0.44098	D	1.545	0.39105	L	-1.76	0.83578	D	-1.92	0.44657	N	0.191	0.20925	-0.1905	0.77915	T	0.441	0.77903	T	10	0.0073500574	0.00167	T	0.085308	0.74506	D	0.365	0.68495	.	.	0.684160453752	0.68146	0.756099335759661	0.75557	0.153896172561	0.17371	0.458259791136	0.33071	T	0.238752	0.60672	T	-0.384429	0.02920	T	-0.318017	0.42791	T	0.0235812666470097	0.01093	T	0.779122	0.41282	T	0.4113793	0.61512	0.31480473	0.57470	0.4113793	0.61513	0.31480473	0.57469	-6.232	0.48181	T	.	.	0.095	0.14797	B	.	.	2.288760	0.29275	18.07	0.98178932688111042	0.38925	0.89624	0.50208	D	AEFBI	.	.	.	.	.	.	.	.	.	0.302508611197394	0.19203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.18	4.18	0.48473	1.940000	0.39851	4.910000	0.45943	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	10.547	0.44253	151	0.94052	Receptor, ligand binding region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	10661.66	34	chrX	109465204	.	A	G	10661.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.89;DP=1206;ExcessHet=0.0000;FS=1.194;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=19.97;ReadPosRankSum=0.519;SOR=0.568	GT:AD:DP:GQ:PL	1/1:0,196:196:99:6315,588,0	19	1	1	0
chrX	111744726	111744728	ACC	-	exonic	ALG13	.	nonframeshift deletion	ALG13:NM_001099922:exon24:c.2754_2756del:p.P945del	Epileptic encephalopathy, early infantile, 36, X-linked dominant	.	209	1301	2	3	7	15	0.00306513	.	.	488365	Inborn_genetic_diseases|not_provided|Developmental_and_epileptic_encephalopathy,_36|ALG13-related_disorder	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0010472,MedGen:C4317295,OMIM:300884,Orphanet:324422|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.531e-05	0	0	0	0	8.02e-05	0	0	3.84e-05	1	26028	rs759349340	0.0016	0.0070	0.0022	0.0002	0.0025	0.0015	0.0015	0.0022	0.0020	0.0021	0.0010	0.0007	0.0010	0.0004	0.0009	0.0016	0.0017	0.0025	0.0010	0.0019	0.0013	0.0002	0.0023	0.0009	0.0008	0.0015	0.0013	0.0019	0	0.0009	0	0.0023	0.0003	0	0.0007	0.0009	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3067.05	39	chrX	111744725	.	TACC	T	3067.05	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.180e+00;DP=843;ExcessHet=0.0000;FS=3.212;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=34.85;ReadPosRankSum=-5.120e-01;SOR=0.407	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	1	0	0
chrX	112454805	112454805	G	A	exonic	RTL4	.	nonsynonymous SNV	RTL4:NM_001004308:exon3:c.G77A:p.R26Q,	.	.	.	.	.	.	.	.	.	.	.	3313569	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.003	B	0.0	B	0.777	N	1.000	N	-0.255	N	1.03	T	-1.017	T	0.038	T	0.048	-2.272	0.004	0.132	-0.036	-0.224	3.292	0.020	0.00290403788605	.	.	2.355e-05	0	0	0	0	4.233e-05	0	0	7.68e-05	2	26028	rs755353797	9.03e-05	9.014e-05	8.306e-05	0.0001	0.0001	7.559e-05	7.013e-05	8.849e-05	8.247e-05	0	0	0	0	0	0	0.0001	0.0002	3.723e-05	8.103e-05	8.711e-05	7.716e-05	9.007e-05	0.0002	4.204e-05	3.152e-05	8.752e-05	6.55e-05	0	0	0	0	0	0	0	0.0002	0	0	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.0	0.01387	B	0.777208	0.06632	N	1.168870	1	0.08975	N	.	.	.	1.03	0.40469	T	1.23	0.01037	N	0.026	0.00527	-1.0172	0.24625	T	0.038	0.16203	T	10	0.07135719	0.10508	T	0.002904	0.06133	T	0.020	0.03691	0.443	0.49975	0.377451072189	0.37352	0.059639761306108804	0.05903	0.0133904734343	0.01285	0.182704076171	0.00121	T	0.005209	0.04657	T	-0.699559	0.00037	T	-1.02731	0.00094	T	0.017898575243346	0.00517	T	0.491551	0.15120	T	0.022533722	0.00923	0.05145711	0.08286	0.022533722	0.00922	0.05145711	0.08285	-2.836	0.08520	T	.	.	0.059	0.00754	B	.	.	-0.837434	0.01036	0.044	0.22613562944109791	0.00918	0.00140	0.00856	N	AEFBI	.	.	.	.	.	.	.	.	.	1.16016045351032E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.19	0.132	0.14061	-0.233000	0.09056	0.267000	0.16613	-1.585000	0.00913	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.5601:0.2067:0.2332:0.0	3.292	0.06544	821	0.40814	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2723.08	36	chrX	112454805	.	G	A	2723.08	.	AC=2;AF=0.048;AN=42;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.62;SOR=1.058	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1173	20	1	0	0
chrX	115189943	115189943	T	C	exonic	RBMXL3	.	nonsynonymous SNV	RBMXL3:NM_001145346:exon1:c.T502C:p.S168P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.023	B	0.006	B	.	.	1.000	N	1.47	L	3.71	T	-0.969	T	0.013	T	0.411	1.192	9.845	1.45	0.824	0.830	3.317	0.079	0.000946627240684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.57e-07	9.107e-07	0	2.951e-06	2.035e-05	0	0	.	.	0	0	0	0	0	0	0	0	2.035e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.01	0.65728	D	0.023	0.18885	B	0.006	0.12133	B	.	.	.	.	0.999988	0.18198	N	1.61	0.41143	L	3.71	0.04046	T	-3.26	0.65397	D	0.091	0.06990	-0.9689	0.37427	T	0.013	0.05177	T	9	0.070482016	0.10259	T	9.47E-4	0.00957	T	0.079	0.23065	0.266	0.21261	0.0297737177859	0.01360	0.054083920078093886	0.05350	.	.	0.459369540215	0.33223	T	0.037882	0.24637	T	-0.294642	0.09175	T	-0.661009	0.08198	T	0.399948507547379	0.28940	T	0.371663	0.08799	T	0.30152363	0.53041	0.3255212	0.58466	0.30152363	0.53041	0.3255212	0.58466	-2.846	0.08615	T	.	.	0.215	0.44423	B	.	.	1.860158	0.23626	16.09	0.94939257910074104	0.25832	0.00626	0.02758	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.0196493147803913	0.13182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.45	1.45	0.21708	0.151000	0.16101	4.103000	0.41875	0.358000	0.20042	0.002000	0.15269	0.991000	0.31484	0.000000	0.00833	0.3725:0.0:0.0:0.6275	3.317	0.06626	937	0.14592	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1708.98	121	chrX	115189943	.	T	C	1708.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.890e+00;DP=1012;ExcessHet=0.0000;FS=8.492;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=-2.070e-01;SOR=0.339	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	20	0	1	0
chrX	115191332	115191332	G	C	exonic	RBMXL3	.	nonsynonymous SNV	RBMXL3:NM_001145346:exon1:c.G1891C:p.E631Q,	.	.	440	1060	17	5	0	27	0.0125757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.831	P	0.557	P	.	.	1.000	N	0	N	3.42	T	-0.966	T	0.012	T	0.1	1.739	11.78	-0.557	0.108	0.651	4.319	0.037	0.00109112982056	.	0.000529801	0.0027	0.0006	0.0032	0	0.0067	0.0017	0	0.0042	0.0005627	87	154602	rs201518011	0.0021	0.0020	0.0021	0.0022	0.0105	0.0021	0.0020	0.0079	0.0071	0.0002	0.0003	0.0007	0	0.0029	0.0105	0.0022	0.0019	0.0034	0.0009	0.0010	0.0011	0.0005	0.0015	0.0008	0.0007	0.0012	0.0011	0.0003	0	0.0003	0.0012	0	0.0009	0.0060	0.0015	0.0007	0.0008	0.0	0.91255	D	0.48	0.11899	T	0.831	0.46109	P	0.557	0.49454	P	.	.	.	.	0.999986	0.18198	N	0.55	0.14455	N	3.42	0.05507	T	-0.27	0.11366	N	0.028	0.00618	-0.9662	0.37974	T	0.012	0.04747	T	9	0.0048033893	0.00102	T	0.001091	0.01287	T	0.037	0.09474	.	.	0.0401082797425	0.02173	0.008967215656300098	0.00859	.	.	0.48147302866	0.36260	T	0.003683	0.03091	T	-0.816133	0.00006	T	-0.949398	0.00264	T	0.065986807732433	0.08075	T	0.393061	0.09795	T	0.14561872	0.33372	0.14239101	0.33876	0.14561872	0.33372	0.14239101	0.33875	-9.698	0.72084	D	.	.	0.353	0.56773	A	.	.	1.536580	0.19710	14.40	0.9866867258465577	0.44442	0.00764	0.03159	N	AEFBI	.	.	.	.	.	.	.	.	.	0.0023180949260896	0.09317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.853	-0.557	0.11209	-1.529000	0.02327	0.708000	0.20910	0.306000	0.19039	0.000000	0.06391	0.008000	0.19753	0.001000	0.02609	0.3291:0.0:0.6709:0.0	4.319	0.10446	937	0.14592	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	4443.33	199	chrX	115191332	.	G	C	4443.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.765e+00;DP=3383;ExcessHet=0.0000;FS=0.398;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=59.95;MQRankSum=-8.810e-01;QD=13.22;ReadPosRankSum=0.243;SOR=0.689	GT:AD:DP:GQ:PL	0/0:73,0:73:99:0,120,1800	19	0	1	1
chrX	115191798	115191798	C	T	exonic	RBMXL3	.	nonsynonymous SNV	RBMXL3:NM_001145346:exon1:c.C2357T:p.S786L,	.	.	427	1094	0	1	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.983	D	0.602	P	.	.	1.000	N	0	N	3.46	T	-0.950	T	0.013	T	0.107	0.520	6.818	0.92	0.179	0.012	7.633	0.084	0.00397118518731	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1166626246	1.631e-05	2.096e-05	1.858e-05	1.166e-05	8.094e-05	9.93e-06	8.12e-06	2.687e-05	1.571e-05	4.051e-05	0	0	0	2.679e-05	0	9.852e-06	6.879e-05	8.094e-05	0.0004	0.0024	0.0006	0	0.0016	0.0003	0.0003	0.0006	0.0005	0.0009	0	0.0002	0	0.0016	0.0005	0.0061	0.0002	0.0007	0.0004	0.008	0.58626	D	0.017	0.60337	D	0.983	0.60381	D	0.602	0.50862	P	.	.	.	.	1	0.81001	D	0	0.06538	N	3.46	0.05249	T	-0.63	0.18459	N	0.183	0.19861	-0.9495	0.41058	T	0.013	0.05321	T	9	0.110036016	0.20551	T	0.003971	0.09400	T	0.084	0.24469	0.31	0.28289	0.0297737177859	0.01360	0.07794321502922227	0.07730	.	.	0.460650205612	0.33400	T	0.004352	0.03758	T	-0.489574	0.00653	T	-0.941016	0.00291	T	0.0410655035760751	0.03883	T	0.477752	0.14377	T	0.064649045	0.13737	0.10606479	0.25509	0.064649045	0.13736	0.10606479	0.25508	-5.72	0.43871	T	.	.	0.487	0.63970	A	.	.	1.652137	0.21074	15.04	0.80217472710216153	0.13099	0.01195	0.04267	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.0671029185437516	0.15415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	0.92	0.18524	-0.080000	0.11303	1.696000	0.28101	0.310000	0.19122	0.000000	0.06391	0.005000	0.19230	0.004000	0.06068	0.0:0.9999:0.0:1.0E-4	7.633	0.27416	937	0.14592	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3490.98	222	chrX	115191798	.	C	T	3490.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=4272;ExcessHet=0.0000;FS=7.330;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=0.251;SOR=0.863	GT:AD:DP:GQ:PL	0/0:132,0:132:99:0,120,1800	20	0	1	0
chrX	118573825	118573825	A	G	exonic	DOCK11	.	nonsynonymous SNV	DOCK11:NM_144658:exon12:c.A1196G:p.N399S,	.	.	0	225	0	1	0	2	0.00442478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.95	T	0.0	B	0.0	B	0.000	D	0.854	N	-1.59	N	1.45	T	-0.995	T	0.015	T	0.069	-0.822	0.618	3.62	0.853	0.512	4.447	0.087	0.0178618172249	9.5e-05	.	0.0003	0	0	0.0002	0	0.0001	0.0016	0.0021	0.0002652	41	154602	rs371030633	0.0001	0.0001	9.804e-05	0.0002	0.0018	0.0001	0.0001	0.0015	0.0014	0	2.859e-05	5.169e-05	6.64e-05	0	0.0002	4.641e-05	0.0002	0.0018	7.161e-05	6.961e-05	6.426e-05	8.846e-05	0.0008	3.473e-05	2.519e-05	0.0001	5.546e-05	3.251e-05	0	0	0	0	0	0	9.403e-05	0	0.0008	0.962	0.02093	T	0.917	0.02899	T	0.0	0.02946	B	0.0	0.01387	B	0.000086	0.51296	D	0.224260	0.854118	0.28453	N	-1.75	0.00322	N	1.45	0.32482	T	1.24	0.01024	N	0.05	0.02559	-0.9948	0.31352	T	0.015	0.06090	T	10	0.0053465962	0.00117	T	0.017862	0.39721	T	0.087	0.25287	.	.	0.198222871337	0.19423	0.10527834662095858	0.10457	0.279136052343	0.30394	0.465677499771	0.34088	T	0.006742	0.06169	T	-0.806633	0.00007	T	-0.938712	0.00299	T	0.0143139276925908	0.00285	T	0.834017	0.50309	T	0.031876832	0.03108	0.052414645	0.08632	0.031876832	0.03107	0.052414645	0.08632	-0.288	0.00468	T	.	.	0.052	0.00203	B	.;.;.	.;.;.	0.987095	0.13646	10.18	0.75036885265552977	0.10921	0.42229	0.26832	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.682668073359786	0.22498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.02	3.62	0.40616	0.178000	0.16634	0.814000	0.21781	0.756000	0.94297	0.045000	0.21207	0.783000	0.26796	0.992000	0.67800	0.504:0.3534:0.1425:0.0	4.447	0.11024	533	0.73433	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1728.08	34	chrX	118573825	.	A	G	1728.08	.	AC=2;AF=0.048;AN=42;DP=727;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.61;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1756,159,0	20	1	0	0
chrX	119086950	119086950	G	A	exonic	KIAA1210	.	nonsynonymous SNV	KIAA1210:NM_020721:exon11:c.C4280T:p.T1427I,	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.762	P	0.391	B	.	.	1.000	N	1.78	L	2.7	T	-1.044	T	0.034	T	0.271	2.266	13.54	0.646	-0.118	0.139	4.513	0.014	0.0106453331282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.013	0.63109	D	0.762	0.43602	P	0.391	0.44178	B	.	.	.	.	1	0.08975	N	1.385	0.34509	L	2.7	0.12162	T	-1.94	0.45042	N	0.12	0.11054	-1.0438	0.16177	T	0.034	0.14683	T	9	0.10307726	0.18929	T	0.010645	0.27409	T	0.014	0.01968	0.219	0.14078	0.137902524267	0.13322	0.02963258081331895	0.02912	0.208249356644	0.23294	0.303659915924	0.10950	T	0.008433	0.07741	T	-0.381864	0.03032	T	-0.786298	0.02268	T	0.460189074277878	0.31172	T	0.427757	0.11540	T	0.058593605	0.11805	0.09349214	0.22084	0.058593605	0.11804	0.09349214	0.22083	-4.469	0.30481	T	.	.	0.276	0.50961	B	.	.	0.914445	0.12892	9.401	0.99240118394739707	0.56501	0.06349	0.12348	N	AEFBI	.	.	.	.	.	.	.	.	.	0.26271808742662	0.18808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.72	0.646	0.16961	0.264000	0.18264	0.237000	0.16261	-0.153000	0.12021	0.054000	0.21560	0.000000	0.08366	0.070000	0.16646	0.1733:0.0:0.5379:0.2888	4.513	0.11329	498	0.76166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2310.98	76	chrX	119086950	.	G	A	2310.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.080e-01;DP=1015;ExcessHet=0.0000;FS=0.567;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=0.104;SOR=0.749	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1178	20	0	1	0
chrX	119088327	119088327	T	C	exonic	KIAA1210	.	nonsynonymous SNV	KIAA1210:NM_020721:exon11:c.A2903G:p.K968R,	.	.	.	.	.	.	.	.	.	.	.	717615	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	0.763	P	0.28	B	.	.	1.000	N	0.345	N	2.91	T	-0.989	T	0.005	T	0.025	1.509	11.00	1.85	0.252	1.048	3.385	0.074	.	0.0099	0.0103311	0.0032	0.0328	0.0009	0	0	0.0001	0.0065	0.0001	0.002639	408	154602	rs144721833	0.0011	0.0011	0.0012	0.0009	0.0335	0.0010	0.0010	0.0317	0.0309	0.0335	0.0025	0	0	0	0.0012	0.0001	0.0024	3.708e-05	0.0091	0.0094	0.0093	0.0086	0.0314	0.0086	0.0085	0.0298	0.0291	0.0314	0	0.0031	0	0	0	0	0.0002	0.0078	0	0.009	0.57480	D	0.438	0.13403	T	0.763	0.43659	P	0.28	0.40294	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	2.91	0.10008	T	-0.92	0.24676	N	0.011	0.00110	-0.9888	0.32903	T	0.005	0.01833	T	9	0.0033786595	0.00059	T	.	.	.	0.074	0.21613	.	.	0.0846915920261	0.08053	0.033776450335741955	0.03325	0.0682168120651	0.07639	0.220467492938	0.01337	T	0.004295	0.03699	T	-0.897949	0.00000	T	-1.03755	0.00080	T	0.00378835702239958	0.00040	T	0.347365	0.07649	T	0.055603597	0.10827	0.06913832	0.14528	0.055603597	0.10827	0.06913832	0.14527	-5.457	0.41464	T	.	.	0.083	0.09045	B	.	.	1.111654	0.14965	11.48	0.97758685556381864	0.35794	0.04599	0.10254	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.078701265367869	0.15796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.36	1.85	0.24418	1.032000	0.29786	1.531000	0.27160	0.609000	0.47794	0.042000	0.21073	0.009000	0.19889	0.029000	0.12982	0.0:0.1331:0.2309:0.636	3.385	0.06847	505	0.75648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1484.98	76	chrX	119088327	.	T	C	1484.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.726;DP=1005;ExcessHet=0.0000;FS=2.303;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=-1.870e+00;SOR=0.493	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1338	20	0	1	0
chrX	119470513	119470513	-	CTGACCTCATGTACACAGGCAT	exonic	SLC25A5	.	frameshift insertion	SLC25A5:NM_001152:exon3:c.739_740insCTGACCTCATGTACACAGGCAT:p.I249Lfs*7,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.188e-07	0.0003	1.368e-06	0	1.196e-06	0	0	.	.	0	0	0	0	0	0	1.196e-06	0	0	7.304e-05	0.0030	0.0001	0	0.0003	3.535e-05	2.563e-05	2.679e-05	1.442e-05	0.0001	0	0	0.0004	0.0003	0	0	5.759e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	233.94	71	chrX	119470513	.	A	ACTGACCTCATGTACACAGGCAT	233.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.884;DP=1396;ExcessHet=0.0000;FS=1.245;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.18;MQRankSum=-6.980e+00;QD=3.34;ReadPosRankSum=-2.867e+00;SOR=0.976	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:82,0:82:99:.:.:0,120,1800	20	0	1	0
chrX	119590450	119590450	G	A	exonic	NKRF	.	unknown	UNKNOWN,	.	.	441	1059	13	9	0	31	0.0144253	.	.	743121	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0013245	0.0027	0.0001	0.0001	0.0003	0.0007	0.0028	0.0047	0.0090	0.0024773	383	154602	rs2233498	0.0016	0.0016	0.0014	0.0021	0.0097	0.0015	0.0015	0.0087	0.0085	0.0001	0.0003	0.0003	3.312e-05	0.0005	0.0097	0.0013	0.0018	0.0094	0.0010	0.0010	0.0009	0.0012	0.0068	0.0008	0.0008	0.0044	0.0036	0.0002	0	0.0003	0.0004	0.0003	0.0002	0.0091	0.0015	0.0007	0.0068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.04762	2045.08	34	chrX	119590450	.	G	A	2045.08	.	AC=2;AF=0.048;AN=42;DP=762;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.99;SOR=0.976	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1214	20	1	0	0
chrX	120379482	120379482	A	T	exonic	ATP1B4	.	nonsynonymous SNV	ATP1B4:NM_001142447:exon8:c.A922T:p.T308S	.	.	430	1034	30	28	0	86	0.0399257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.711	P	0.41	B	0.000	D	1.000	D	0.49	N	1.56	T	-1.091	T	0.060	T	0.166	2.429	14.08	5.72	1.911	4.079	14.033	0.094	.	0.0014	0.00529801	0.0038	0.0005	0.0005	0	0.0022	0.0024	0.0082	0.0223	0.0036804	569	154602	rs138577504	0.0023	0.0023	0.0018	0.0032	0.0288	0.0022	0.0022	0.0245	0.0230	0.0002	0.0008	0.0005	3.334e-05	0.0015	0.0288	0.0013	0.0036	0.0195	0.0018	0.0019	0.0016	0.0024	0.0190	0.0016	0.0015	0.0148	0.0133	0.0001	0.0044	0.0019	0.0004	0.0006	0.0011	0.0327	0.0019	0.0033	0.0190	0.208	0.19782	T	0.2	0.27591	T	0.711	0.42090	P	0.41	0.44785	B	0.000000	0.84330	D	0.047345	0.999845	0.49770	D	0.995	0.25082	L	1.56	0.29602	T	-1.65	0.39692	N	0.067	0.07398	-1.0910	0.05367	T	0.060	0.24981	T	10	0.009136409	0.00206	T	.	.	.	0.094	0.27141	.	.	0.516770950016	0.51320	0.7401097463312105	0.73955	0.433384082707	0.43495	0.614305377007	0.54924	T	0.016557	0.13660	T	-0.654293	0.00068	T	-0.697686	0.05953	T	0.0296468893722377	0.01935	T	0.79512	0.43772	T	0.40518048	0.61089	0.34659722	0.60326	0.40518048	0.61090	0.34659722	0.60325	-5.61	0.43210	T	.	.	0.194	0.52177	B	.;.;.	.;.;.	2.149820	0.27382	17.44	0.99072733689664194	0.51762	0.84846	0.43938	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999872186014163	0.44625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.72	5.72	0.89380	4.136000	0.57766	11.011000	0.84858	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.660000	0.32968	1.0:0.0:0.0:0.0	14.033	0.64149	924	0.18029	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	1578.66	33	chrX	120379482	.	A	T	1578.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.075;DP=656;ExcessHet=0.0000;FS=4.401;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=21.93;ReadPosRankSum=1.35;SOR=0.244	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,934	19	1	1	0
chrX	120875036	120875036	G	C	exonic	CT47B1	.	nonsynonymous SNV	CT47B1:NM_001145718:exon1:c.C635G:p.A212G,	.	.	10	1498	9	5	0	19	0.00630182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.862	P	0.188	B	.	.	1.000	N	0.805	L	.	.	-1.060	T	0.037	T	0.065	0.917	8.732	1.24	0.903	-0.479	5.437	0.041	0.000850217744994	.	0.000794702	0.0007	0.0001	0.0001	0	0	0.0001	0.0016	0.0049	0.0005951	92	154602	rs760028626	0.0003	0.0003	0.0002	0.0005	0.0054	0.0003	0.0003	0.0049	0.0047	3.795e-05	0	0	0	0	0.0012	4.516e-05	0.0002	0.0054	0.0002	0.0002	3.856e-05	0.0004	0.0040	9.59e-05	7.905e-05	0.0023	0.0018	3.226e-05	0	0	0	0	0	0.0046	7.533e-05	0	0.0040	0.077	0.34095	T	0.164	0.31026	T	0.862	0.47435	P	0.188	0.36237	B	.	.	.	.	1	0.08975	N	1.95	0.52479	M	.	.	.	-1.41	0.34795	N	0.016	0.00203	-1.0604	0.11656	T	0.037	0.15899	T	8	0.005553782	0.00123	T	8.5E-4	0.00734	T	0.041	0.10877	0.142	0.04556	0.201204373187	0.19734	0.015435167580957776	0.01499	0.00543823725618	0.00476	0.474154531956	0.35252	T	0.033169	0.22801	T	-0.78585	0.00010	T	-0.90078	0.00497	T	0.0387966111302376	0.03473	T	0.511749	0.16382	T	0.07569074	0.17069	0.10228518	0.24509	0.07569074	0.17069	0.10228518	0.24509	-3.978	0.23473	T	.	.	0.163	0.35992	B	.	.	0.816588	0.11877	8.442	0.92390273536993017	0.21801	0.00898	0.03523	N	AEFBI	.	.	.	.	.	.	.	.	.	5.14105901477686E-5	0.04171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.24	1.24	0.20416	-3.104000	0.00664	0.232000	0.16202	0.392000	0.20495	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.0:1.0:0.0	5.437	0.15784	949	0.11373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1194.98	39	chrX	120875036	.	G	C	1194.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.22;DP=809;ExcessHet=0.0000;FS=0.846;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.94;ReadPosRankSum=-1.400e-02;SOR=0.702	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chrX	120875306	120875306	A	T	exonic	CT47B1	.	nonsynonymous SNV	CT47B1:NM_001145718:exon1:c.T365A:p.F122Y,	.	.	8	1499	10	5	0	20	0.00662691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.877	P	0.916	D	0.250	N	1.000	N	0.805	L	.	.	-1.015	T	0.100	T	0.343	2.256	13.50	-1.35	-0.387	-0.240	5.758	0.065	0.0102368559737	.	0.000794702	0.0007	0.0001	0.0001	0	0	0.0001	0.0017	0.0050	0.0005951	92	154602	rs765375138	0.0003	0.0003	0.0002	0.0005	0.0054	0.0003	0.0003	0.0049	0.0047	3.789e-05	0	0	0	0	0.0012	4.516e-05	0.0002	0.0054	0.0001	0.0002	3.854e-05	0.0004	0.0036	8.853e-05	7.153e-05	0.0019	0.0015	3.195e-05	0	0	0	0	0	0.0046	7.508e-05	0	0.0036	0.036	0.43393	D	1.0	0.01155	T	0.877	0.48223	P	0.916	0.65201	D	0.250082	0.15528	N	0.470590	1	0.08975	N	1.955	0.52871	M	.	.	.	-1.03	0.27052	N	0.117	0.10626	-1.0148	0.25400	T	0.100	0.37265	T	9	0.008594394	0.00195	T	0.010237	0.26544	T	0.065	0.18881	0.307	0.27806	0.0297737177859	0.01360	0.0457754556263806	0.04521	0.0192792102347	0.01888	0.667820811272	0.62527	T	0.030334	0.21526	T	-0.566339	0.00233	T	-0.585468	0.14062	T	0.0987098068554941	0.12215	T	0.281072	0.04905	T	0.19576402	0.41377	0.11481417	0.27716	0.19576402	0.41377	0.11481417	0.27715	-4.297	0.28135	T	.	.	0.248	0.48272	B	.	.	1.701288	0.21672	15.30	0.98477144810744788	0.41931	0.00469	0.02250	N	AEFDBI	.	.	.	.	.	.	.	.	.	2.55629056143212E-4	0.06190	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.74	-1.35	0.08638	0.044000	0.13876	-14.612000	0.00395	0.548000	0.25860	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4199:0.5801:0.0:0.0	5.758	0.17451	949	0.11373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1701.98	39	chrX	120875306	.	A	T	1701.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.227;DP=935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.84;ReadPosRankSum=0.122;SOR=0.717	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chrX	120875562	120875562	C	T	exonic	CT47B1	.	nonsynonymous SNV	CT47B1:NM_001145718:exon1:c.G109A:p.D37N,	.	.	140	1364	9	9	0	27	0.00980036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.998	D	0.982	D	0.883	N	1.000	N	0.625	N	.	.	-1.007	T	0.090	T	0.014	2.408	14.01	0.422	0.016	-0.625	3.056	0.043	0.0204394931847	.	0.0010596	0.0024	0.0004	0.0003	0	0.0024	0.0022	0	0.0081	0.0018564	287	154602	rs201496820	0.0022	0.0022	0.0021	0.0025	0.0087	0.0021	0.0021	0.0060	0.0052	0.0003	0.0002	0.0007	3.323e-05	0.0008	0.0087	0.0022	0.0023	0.0059	0.0015	0.0015	0.0015	0.0016	0.0045	0.0013	0.0012	0.0024	0.0019	0.0004	0	0.0003	0.0008	0	0.0004	0.0098	0.0024	0.0035	0.0045	0.409	0.10180	T	0.033	0.53072	D	0.998	0.73220	D	0.982	0.75477	D	0.883443	0.08739	N	0.913390	1	0.08975	N	2.24	0.63355	M	.	.	.	-1.27	0.31981	N	0.029	0.00666	-1.0069	0.27881	T	0.090	0.34491	T	9	0.00861612	0.00195	T	0.020439	0.43035	T	0.043	0.11576	.	.	0.0297737177859	0.01360	0.027698094747085726	0.02719	0.0266164007129	0.02719	0.460752248764	0.33413	T	0.019919	0.15779	T	-0.849463	0.00003	T	-0.989664	0.00160	T	0.0198412439985195	0.00686	T	0.639636	0.25265	T	0.070556395	0.15551	0.05144595	0.08282	0.070556395	0.15550	0.05144595	0.08282	-4.819	0.34812	T	.	.	0.149	0.32992	B	.	.	1.244299	0.16405	12.52	0.99588817944689012	0.73454	0.00117	0.00738	N	AEFBI	.	.	.	.	.	.	.	.	.	2.69833855707022E-5	0.03498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.34	0.422	0.15674	0.162000	0.16318	-5.150000	0.01829	0.353000	0.19991	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.5281:0.2863:0.1856	3.056	0.05811	949	0.11373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	163.27	6	chrX	120875562	.	C	T	163.27	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.13;DP=221;ExcessHet=0.0000;FS=8.929;InbreedingCoeff=-0.0421;MLEAC=1;MLEAF=0.024;MQ=45.39;MQRankSum=2.84;QD=8.59;ReadPosRankSum=-1.580e+00;SOR=3.126	GT:AD:DP:GQ:PL	0/0:5,0:5:15:0,15,207	20	0	1	0
chrX	124381186	124381186	C	T	exonic	TENM1	.	nonsynonymous SNV	TENM1:NM_014253:exon31:c.G7528A:p.G2510R	.	.	438	1074	6	4	0	14	0.00647549	.	.	3219800	TENM1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.28	T	0.257	B	0.075	B	0.008	N	1.000	D	0	N	-1.91	D	-0.467	T	0.321	T	0.309	1.003	9.096	5.83	2.460	3.028	12.633	0.181	0.631605782772	9.5e-05	0.0018543	0.0009	0.0001	0.0001	0	0	0.0001	0.0016	0.0065	0.0008603	133	154602	rs185277810	0.0004	0.0004	0.0003	0.0007	0.0060	0.0004	0.0004	0.0054	0.0052	0	2.841e-05	0	0	0	0.0053	9.62e-05	0.0002	0.0060	0.0002	0.0002	0.0001	0.0003	0.0056	0.0001	0.0001	0.0034	0.0028	3.239e-05	0	9.43e-05	0	0	0	0	7.517e-05	0.0007	0.0056	0.106	0.32141	T	0.422	0.14034	T	0.121	0.26708	B	0.032	0.22131	B	0.008427	0.30846	N	0.368500	0.945292	0.37482	D	0.41	0.12415	N	-1.94	0.84919	D	-0.96	0.25986	N	0.098	0.07949	-0.4671	0.69827	T	0.321	0.69047	T	10	0.006038189	0.00136	T	0.631606	0.96837	D	0.181	0.45247	0.331	0.31681	0.444231683744	0.44045	0.719846219959831	0.71927	0.580046561263	0.53860	0.462271302938	0.33623	T	0.025284	0.18938	T	-0.369102	0.03640	T	-0.301462	0.44571	T	0.0253142472057662	0.01314	T	0.918508	0.70719	D	0.25603557	0.48641	0.2613046	0.51905	0.25603557	0.48641	0.2613046	0.51905	-3.491	0.16306	T	.	.	0.076	0.06024	B	.;.	.;.	2.730058	0.35734	19.98	0.94815166607115187	0.25580	0.91590	0.53847	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999536500128956	0.40238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.83	5.83	0.93059	3.091000	0.49896	4.063000	0.41603	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.2887:0.7113:0.0:0.0	12.633	0.56027	974	0.05496	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2241.08	34	chrX	124381186	.	C	T	2241.08	.	AC=2;AF=0.048;AN=42;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=34.48;SOR=0.925	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	20	1	0	0
chrX	124384356	124384356	T	A	exonic	TENM1	.	nonsynonymous SNV	TENM1:NM_014253:exon29:c.A6554T:p.H2185L	.	.	432	1077	7	6	0	19	0.00874367	.	.	717627	TENM1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.66	T	0.007	B	0.007	B	0.000	D	1.000	D	-0.255	N	-1.98	D	-0.665	T	0.236	T	0.333	3.029	16.11	5.52	1.843	4.207	14.665	0.299	.	0.0070	0.00370861	0.0058	0.0016	0.0020	0	0.0055	0.0090	0.0016	0.0019	0.0057179	884	154602	rs144335593	0.0086	0.0086	0.0087	0.0084	0.0101	0.0084	0.0084	0.0099	0.0098	0.0009	0.0030	0.0011	3.311e-05	0.0055	0.0094	0.0101	0.0075	0.0033	0.0059	0.0060	0.0061	0.0054	0.0091	0.0055	0.0054	0.0084	0.0081	0.0014	0.0088	0.0070	0.0004	0	0.0059	0.0092	0.0091	0.0033	0.0035	0.507	0.07670	T	0.156	0.31833	T	0.001	0.07471	B	0.002	0.06944	B	0.000008	0.62929	D	0.108661	0.999998	0.58761	D	0.46	0.12951	N	-2.01	0.85468	D	-2.89	0.60665	D	0.164	0.17278	-0.6654	0.62036	T	0.236	0.60355	T	10	0.008212984	0.00186	T	.	.	.	0.299	0.61955	.	.	0.544770947229	0.54130	0.5100138418175805	0.50923	0.603150604402	0.55300	0.816038012505	0.84420	D	0.051388	0.28865	T	-0.35922	0.04175	T	-0.278383	0.46969	T	0.0106961061740077	0.00150	T	0.868113	0.56980	D	0.3963837	0.60481	0.35569715	0.61093	0.3963837	0.60481	0.35569715	0.61092	-3.637	0.18393	T	.	.	0.083	0.09239	B	.;.	.;.	2.342220	0.30018	18.31	0.96627177539642872	0.30502	0.86943	0.46340	D	AEFI	.	.	.	.	.	.	.	.	.	0.99999703942372	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.52	5.52	0.82153	4.209000	0.58291	2.965000	0.35773	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	14.665	0.68511	974	0.05496	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2676.08	34	chrX	124384356	.	T	A	2676.08	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.780e-01;DP=773;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=30.07;ReadPosRankSum=-1.168e+00;SOR=0.356	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1060	20	1	0	0
chrX	129540745	129540745	C	T	exonic	OCRL	.	nonsynonymous SNV	OCRL:NM_000276:exon2:c.C41T:p.T14I	Dent disease 2, X-linked recessive;Lowe syndrome, X-linked recessive	.	2	1515	3	2	0	7	0.00230491	.	.	135296	not_specified|Lowe_syndrome|Nephrolithiasis/nephrocalcinosis|not_provided	MedGen:CN169374|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000,Orphanet:534|MedGen:CN580796|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.0	B	0.001	B	0.899	N	0.545	D	0.55	N	-3.44	D	-0.013	T	0.583	D	0.281	2.468	14.21	3.68	0.892	1.863	6.914	0.231	.	0.0037	0.0018543	0.0053	0.0009	0.0022	0	0.0147	0.0072	0.0097	0.0022	0.0052522	812	154602	rs61752970	0.0071	0.0071	0.0072	0.0068	0.0079	0.0070	0.0069	0.0077	0.0077	0.0007	0.0020	0.0012	0	0.0172	0.0010	0.0079	0.0053	0.0017	0.0048	0.0052	0.0050	0.0045	0.0075	0.0045	0.0043	0.0069	0.0066	0.0012	0	0.0017	0.0008	0	0.0131	0	0.0075	0.0020	0.0012	0.018	0.50676	D	0.335	0.18286	T	0.0	0.02946	B	0.0	0.04355	B	0.899061	0.07343	N	1.053830	0.545181	0.32087	D	1.04	0.26193	L	-3.45	0.94469	D	-0.67	0.19297	N	0.155	0.42443	-0.0126	0.81994	T	0.583	0.85021	D	10	0.0047611	0.00101	T	.	.	.	0.231	0.53208	.	.	0.74689369608	0.74461	0.6776998863586694	0.67708	0.273309695446	0.29829	0.756409645081	0.75395	T	0.337755	0.70710	T	-0.324311	0.06550	T	-0.232087	0.51570	T	0.00519365265971893	0.00056	T	0.407759	0.10493	T	0.060607925	0.12455	0.118886776	0.28697	0.058006927	0.11615	0.1062749	0.25562	-3.784	0.20566	T	.	.	0.152	0.41295	B	.;.	.;.	3.236887	0.44165	21.9	0.99168746029182175	0.54326	0.37433	0.25761	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.999998703004551	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.56	3.68	0.41359	2.144000	0.41821	0.775000	0.21430	0.599000	0.40250	0.988000	0.36536	0.984000	0.30665	0.996000	0.76049	0.0:0.8694:0.0:0.1306	6.914	0.23532	253	0.90069	OCRL1, PH domain;OCRL1, PH domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1521.98	95	chrX	129540745	.	C	T	1521.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.358e+00;DP=785;ExcessHet=0.0000;FS=8.767;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.02;ReadPosRankSum=1.01;SOR=0.183	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1116	20	0	1	0
chrX	129750526	129750526	G	T	exonic	XPNPEP2	.	nonsynonymous SNV	XPNPEP2:NM_003399:exon8:c.G696T:p.K232N,	.	.	427	1091	2	2	0	6	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.411	B	0.111	B	0.054	N	1.000	N	0.615	N	0.94	T	-1.066	T	0.040	T	0.033	-0.103	3.496	-0.918	-0.243	1.700	10.100	0.044	.	0.0050	0.00291391	0.0076	0.0014	0.0036	0.0004	0.0029	0.0134	0.0043	0.0011	0.0043208	668	154602	rs41311662	0.0073	0.0073	0.0074	0.0070	0.0088	0.0072	0.0071	0.0086	0.0086	0.0010	0.0029	0.0005	6.717e-05	0.0025	0.0015	0.0088	0.0059	0.0009	0.0051	0.0052	0.0053	0.0047	0.0084	0.0048	0.0047	0.0077	0.0075	0.0011	0	0.0058	0.0008	0.0003	0.0033	0	0.0084	0.0078	0.0011	0.296	0.14694	T	0.192	0.28300	T	0.411	0.35101	B	0.111	0.31539	B	0.053803	0.22777	N	0.509988	1	0.08975	N	0.69	0.16971	N	0.94	0.43672	T	-2.27	0.50666	N	0.044	0.01658	-1.0658	0.10362	T	0.040	0.17277	T	10	0.0037261546	0.00069	T	.	.	.	0.044	0.11924	0.418	0.45873	0.0138822411134	0.00435	0.4936216975096985	0.49283	0.0618784989107	0.06891	0.348435133696	0.17691	T	0.032932	0.22699	T	-0.851981	0.00002	T	-0.989054	0.00161	T	0.00927120343260039	0.00118	T	0.546045	0.18695	T	0.112870015	0.26661	0.095018506	0.22517	0.112870015	0.26661	0.095018506	0.22516	-4.032	0.24281	T	.	.	0.103	0.18497	B	.	.	0.515690	0.08847	5.624	0.86538283556362205	0.16604	0.07932	0.13918	N	AEFBI	.	.	.	.	.	.	.	.	.	0.755122282301359	0.23421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.03	-0.918	0.09949	1.778000	0.38244	1.134000	0.24350	-0.106000	0.15538	0.121000	0.23193	0.389000	0.24654	0.004000	0.06068	0.4991:0.0:0.5009:0.0	10.100	0.41673	153	0.93993	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3268.08	33	chrX	129750526	.	G	T	3268.08	.	AC=2;AF=0.048;AN=42;DP=822;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.04;SOR=1.586	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	1	0	0
chrX	129751771	129751771	A	T	exonic	XPNPEP2	.	nonsynonymous SNV	XPNPEP2:NM_003399:exon9:c.A766T:p.I256F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.959	D	0.000	D	1.000	D	3.635	H	0.96	T	-0.115	T	0.348	T	0.804	4.120	21.2	5.43	1.814	6.453	12.317	0.487	0.433259068805	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1268157835	2.733e-06	2.732e-06	2.722e-06	2.754e-06	3.564e-06	7.3e-07	2e-07	9.5e-07	2.6e-07	0	0	0	0	0	0	3.564e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.959	0.70163	D	0.000000	0.84330	D	0.046996	0.999965	0.52935	D	3.485	0.92608	M	0.96	0.42888	T	-3.92	0.73151	D	0.89	0.88909	-0.1145	0.79763	T	0.348	0.71218	T	10	0.8972866	0.89084	D	0.433259	0.94023	D	0.487	0.77528	0.701	0.83777	0.458917189328	0.45515	0.9300619561594711	0.92985	0.419145018288	0.42472	0.721583008766	0.70277	T	0.164299	0.50971	T	0.136262	0.67966	D	-0.0420459	0.67563	D	0.968985112604099	0.68431	D	0.925307	0.72522	D	0.95001954	0.96268	0.9081859	0.95559	0.95001954	0.96268	0.9081859	0.95560	-11.498	0.82319	D	.	.	0.344	0.56171	A	.	.	3.900581	0.56818	23.8	0.98943594463359585	0.48997	0.97041	0.72348	D	AEFDI	.	.	.	.	.	.	.	.	.	0.999795599568852	0.43153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.43	5.43	0.79006	6.587000	0.73960	6.145000	0.54110	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.903000	0.43903	1.0:0.0:0.0:0.0	12.317	0.54286	148	0.94114	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1972.98	40	chrX	129751771	.	A	T	1972.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=883;ExcessHet=0.0000;FS=1.994;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=-7.490e-01;SOR=0.901	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1344	20	0	1	0
chrX	129761186	129761186	G	A	exonic	XPNPEP2	.	nonsynonymous SNV	XPNPEP2:NM_003399:exon17:c.G1513A:p.A505T,	.	.	422	1099	0	1	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.98	T	0.055	B	0.077	B	0.014	N	1.000	N	1.355	L	-1.15	T	-0.862	T	0.252	T	0.206	0.504	6.732	3.83	0.530	0.910	5.815	0.175	0.0184855124795	.	.	2.358e-05	0.0001	0	0	0	2.141e-05	0	0	2.59e-05	4	154602	rs745457993	1.184e-05	1.275e-05	1.089e-05	1.377e-05	0.0005	6.61e-06	5.09e-06	8.525e-05	3.55e-05	0.0002	2.841e-05	0	0	0	0.0005	5.939e-06	2.17e-05	0	1.782e-05	2.611e-05	2.569e-05	0	3.238e-05	2.96e-06	1.11e-06	.	.	3.238e-05	0	0	0	0	0	0	1.88e-05	0	0	1.0	0.00964	T	0.655	0.06621	T	0.055	0.22733	B	0.077	0.28532	B	0.013528	0.28812	N	0.429791	0.841477	0.28624	N	1.17	0.29769	L	-1.15	0.77964	T	-0.26	0.11185	N	0.118	0.10769	-0.8616	0.51147	T	0.252	0.62235	T	10	0.09914985	0.17973	T	0.018486	0.40571	T	0.175	0.44197	0.526	0.63115	0.494838880905	0.49117	0.6338814186688351	0.63322	0.0709521181433	0.07953	0.367237061262	0.20434	T	0.07966	0.36180	T	-0.330495	0.06074	T	-0.520174	0.20276	T	0.0294331589681697	0.01903	T	0.735426	0.35200	T	0.04933068	0.08743	0.08798943	0.20486	0.04933068	0.08743	0.08798943	0.20485	-7.401	0.56912	T	.	.	0.086	0.10739	B	.	.	1.400046	0.18141	13.57	0.5825287022332104	0.05951	0.66133	0.32973	D	AEFI	.	.	.	.	.	.	.	.	.	0.99848792641196	0.37052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6	3.83	0.43287	0.819000	0.26965	3.365000	0.37889	0.676000	0.76740	0.980000	0.35271	0.919000	0.28284	0.964000	0.52637	0.1682:0.0:0.6774:0.1544	5.815	0.17748	131	0.94738	Peptidase M24|Aminopeptidase P	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1884.08	34	chrX	129761186	.	G	A	1884.08	.	AC=2;AF=0.048;AN=42;DP=751;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.44;SOR=0.756	GT:AD:DP:GQ:PL	1/1:0,64:64:99:1912,192,0	20	1	0	0
chrX	130012975	130012975	G	A	exonic	BCORL1	.	nonsynonymous SNV	BCORL1:NM_001379450:exon4:c.G203A:p.G68D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.983	D	0.725	P	0.003	N	0.584	N	0.55	N	0.84	T	-0.708	T	0.151	T	0.56	2.325	13.73	5.28	2.203	4.834	11.602	0.155	0.0336169119355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.821e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.064	0.44905	T	.	.	.	.	.	.	0.002832	0.35868	N	0.000000	0.584084	0.31075	N	.	.	.	0.48	0.55945	T	-0.38	0.13418	N	0.86	0.87699	-0.7081	0.60046	T	0.151	0.47979	T	10	0.6378375	0.68884	D	0.033617	0.55108	D	0.155	0.40530	0.16	0.06396	0.658802289784	0.65594	0.26988670266984277	0.26901	0.543992118055	0.51468	0.670438170433	0.62901	T	.	.	.	-0.0775579	0.40111	T	-0.349183	0.39300	T	0.576655541672815	0.35490	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	0.55535	B	.;.	.;.	3.443450	0.47919	22.5	0.99431376210323652	0.64276	0.91846	0.54389	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.998006456015337	0.36301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.28	5.28	0.74118	4.654000	0.61164	9.860000	0.82050	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0837:0.0:0.9163:0.0	11.602	0.50265	428	0.80967	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1788.08	36	chrX	130012975	.	G	A	1788.08	.	AC=2;AF=0.048;AN=42;DP=756;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.31;SOR=0.865	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1284	20	1	0	0
chrX	130015924	130015924	T	C	exonic	BCORL1	.	nonsynonymous SNV	BCORL1:NM_001379450:exon4:c.T3152C:p.M1051T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.043	B	0.012	B	0.023	N	0.956	N	0.695	N	1.48	T	-1.065	T	0.053	T	0.306	0.184	4.989	0.968	0.146	1.527	4.271	0.018	0.00649390982154	.	.	1.14e-05	0	0	0	0	2.086e-05	0	0	2.59e-05	4	154602	rs746169893	2.276e-05	2.276e-05	2.178e-05	2.475e-05	0.0002	1.562e-05	1.32e-05	1.818e-05	1.519e-05	0	2.84e-05	0	0	0	0.0002	2.731e-05	0	0	1.8e-05	1.745e-05	2.573e-05	0	3.777e-05	2.99e-06	1.12e-06	6.26e-06	2.34e-06	0	0	0	0	0	0	0	3.777e-05	0	0	0.157	0.27426	T	0.855	0.06903	T	.	.	.	.	.	.	0.022569	0.26608	N	0.189126	0.972651	0.26318	N	.	.	.	1.05	0.39990	T	-0.82	0.24026	N	0.153	0.22486	-1.0646	0.10642	T	0.053	0.22423	T	10	0.088983744	0.15372	T	0.006494	0.17100	T	0.018	0.03083	0.306	0.27646	0.502820412485	0.49921	0.357528113635712	0.35666	0.481701296431	0.47150	0.679981052876	0.64265	T	0.009882	0.08963	T	-0.297011	0.08945	T	-0.612575	0.11778	T	0.0638523130551134	0.07760	T	0.662834	0.27173	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.51558	B	.;.;.	.;.;.	1.801273	0.22893	15.80	0.77442633570050612	0.11878	0.63648	0.32155	D	AEBCI	.	.	.	.	.	.	.	.	.	0.00178174119298207	0.08881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.17	0.968	0.18799	1.532000	0.35634	3.488000	0.38695	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.2505:0.2223:0.0:0.5272	4.271	0.10237	428	0.80967	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3187.08	36	chrX	130015924	.	T	C	3187.08	.	AC=2;AF=0.048;AN=42;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.86;SOR=0.941	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1268	20	1	0	0
chrX	130384742	130384742	G	C	exonic	GPR119	.	nonsynonymous SNV	GPR119:NM_178471:exon1:c.C706G:p.L236V,	.	.	435	1049	18	20	0	58	0.0269017	.	.	706099	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.905	P	0.493	P	0.007	N	0.709	D	1.505	L	1.19	T	-0.926	T	0.077	T	0.372	1.654	11.49	4.29	1.153	1.594	3.283	0.102	0.252115600102	0.0026	0.0018543	0.0022	0.0004	0.0003	0	0.0018	0.0033	0.0063	0.0022	0.002348	363	154602	rs41310452	0.0032	0.0032	0.0032	0.0034	0.0196	0.0032	0.0031	0.0162	0.0149	0.0006	0.0008	0.0007	0	0.0015	0.0196	0.0036	0.0034	0.0033	0.0023	0.0023	0.0024	0.0021	0.0036	0.0021	0.0020	0.0032	0.0030	0.0006	0.0073	0.0015	0.0008	0	0.0008	0.0046	0.0036	0.0039	0.0030	0.396	0.10623	T	0.435	0.13518	T	0.905	0.49920	P	0.493	0.47443	P	0.007079	0.31620	N	0.270585	0.709009	0.33499	D	1.075	0.27130	L	1.19	0.37578	T	-0.97	0.25770	N	0.052	0.02366	-0.9257	0.44758	T	0.077	0.30859	T	10	0.012250364	0.00264	T	0.252116	0.89159	D	0.102	0.29158	.	.	0.72341110774	0.72096	0.49764782468746016	0.49685	0.984425732197	0.73851	0.496496796608	0.38339	T	0.025164	0.18872	T	-0.537071	0.00349	T	-0.546347	0.17678	T	0.0176764243814382	0.00499	T	0.683432	0.29175	T	0.1734513	0.38093	0.112142295	0.27056	0.1734513	0.38093	0.112142295	0.27055	-3.675	0.18950	T	.	.	0.070	0.03661	B	.	.	2.426414	0.31206	18.67	0.99423980889278363	0.63935	0.65208	0.32661	D	AEFBI	.	.	.	.	.	.	.	.	.	0.00494949168087758	0.10771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.15	4.29	0.50359	1.355000	0.33671	8.526000	0.77440	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.995000	0.73285	0.0958:0.1667:0.5623:0.1751	3.283	0.06515	361	0.84870	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1843.08	33	chrX	130384742	.	G	C	1843.08	.	AC=2;AF=0.048;AN=42;DP=743;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.78;SOR=0.836	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1337	20	1	0	0
chrX	130385245	130385245	C	T	exonic	GPR119	.	nonsynonymous SNV	GPR119:NM_178471:exon1:c.G203A:p.S68N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.0	B	0.001	B	0.295	N	1.000	N	1.4	L	1.16	T	-1.034	T	0.060	T	0.059	-0.839	0.577	0.776	0.131	-0.308	4.836	0.037	0.00421020863866	.	.	3.423e-05	0	0	0	0	6.257e-05	0	0	3.88e-05	6	154602	rs199564054	2.641e-05	2.641e-05	2.45e-05	3.027e-05	0.0034	1.853e-05	1.602e-05	0.0020	0.0016	0.0001	0	0	0	0	0.0034	9.501e-06	6.51e-05	1.847e-05	2.668e-05	2.61e-05	3.854e-05	0	1.878e-05	7.09e-06	2.97e-06	.	.	0	0	0	0	0	0	0.0092	1.878e-05	0	0	0.731	0.03799	T	0.597	0.08025	T	0.0	0.02946	B	0.001	0.04355	B	0.295458	0.14692	N	0.684653	0.999662	0.20745	N	1.205	0.30389	L	1.16	0.38073	T	-0.37	0.13226	N	0.088	0.06587	-1.0339	0.19205	T	0.060	0.24981	T	10	0.05345592	0.05539	T	0.00421	0.10153	T	0.037	0.09474	0.341	0.33302	0.604448947905	0.60128	0.155060939168576	0.15427	0.467719060389	0.46140	0.278213977814	0.07245	T	0.010617	0.09570	T	-0.620231	0.00110	T	-0.978403	0.00185	T	0.0161406354525494	0.00390	T	0.378362	0.09086	T	0.055616386	0.10834	0.07141733	0.15291	0.055616386	0.10833	0.07141733	0.15290	-4.199	0.26737	T	.	.	0.092	0.13597	B	.	.	0.364184	0.07365	3.988	0.79022574634206433	0.12556	0.06429	0.12434	N	AEFBI	.	.	.	.	.	.	.	.	.	0.0141150177831734	0.12555	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.06	0.776	0.17676	-0.498000	0.06502	-0.268000	0.10371	0.599000	0.40250	0.000000	0.06391	0.197000	0.23541	0.948000	0.49324	0.0:0.4343:0.2978:0.2679	4.836	0.12827	361	0.84870	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1942.98	33	chrX	130385245	.	C	T	1942.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.300e-01;DP=825;ExcessHet=0.0000;FS=4.392;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.06;ReadPosRankSum=0.318;SOR=0.755	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1337	20	0	1	0
chrX	131278044	131278044	C	G	exonic	IGSF1	.	nonsynonymous SNV	IGSF1:NM_001170962:exon12:c.G2105C:p.G702A	Hypothyroidism, central, and testicular enlargement, X-linked recessive	.	10	1509	3	0	0	3	0.000993049	.	.	1196303	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	no_assertion_criteria_provided	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.73	T	0.716	P	0.384	B	0.101	N	0.981	P	1.605	L	2.72	T	-1.035	T	0.001	T	0.097	-0.007	3.976	-0.287	-0.341	0.311	4.672	0.085	.	0.0022	0.0323179	0.0150	0.0036	0.0011	0.1764	0.0007	0.0013	0.0063	0.0037	0.0128524	1987	154602	rs146715796	0.0061	0.0061	0.0063	0.0059	0.1465	0.0060	0.0060	0.1429	0.1414	0.0019	0.0009	0.0008	0.1465	0.0005	0.0015	0.0018	0.0099	0.0040	0.0066	0.0069	0.0067	0.0065	0.1399	0.0062	0.0061	0.1297	0.1256	0.0035	0	0.0011	0	0.1399	0.0002	0	0.0018	0.0079	0.0080	0.135	0.26409	T	0.132	0.34716	T	0.089	0.42206	B	0.047	0.43970	B	0.101208	0.02549	N	1.782880	0.999992	0.20638	P	0.805	0.20218	L	2.72	0.11947	T	-1.23	0.31170	N	0.089	0.09490	-1.0349	0.18888	T	0.001	0.00378	T	9	0.0016301274	0.00019	T	.	.	.	0.085	0.24743	.	.	.	.	0.21282559510905735	0.21198	0.316542733125	0.33910	0.35345223546	0.18430	T	0.025516	0.19064	T	-0.919269	0.00000	T	-0.949422	0.00264	T	0.000310890644523598	0.00003	T	0.787921	0.42712	T	0.07540579	0.16985	0.087864995	0.20451	0.07554993	0.17028	0.087864995	0.20450	-7.649	0.58652	D	.	.	0.094	0.14842	B	.;.;.;.	.;.;.;.	0.666501	0.10347	7.077	0.8783984342710347	0.17520	0.33800	0.24915	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.998403719745011	0.36906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	-0.287	0.12222	0.365000	0.20076	0.792000	0.21577	0.599000	0.40250	0.059000	0.21734	0.357000	0.24501	0.545000	0.30055	0.0:0.4382:0.1537:0.4081	4.672	0.12077	61	0.97388	.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1548.98	41	chrX	131278044	.	C	G	1548.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.68;DP=851;ExcessHet=0.0000;FS=0.630;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.06;ReadPosRankSum=-3.870e-01;SOR=0.799	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1243	20	0	1	0
chrX	131544886	131544888	GTT	-	exonic	OR13H1	.	nonframeshift deletion	OR13H1:NM_001004486:exon1:c.813_815del:p.K271_F272delinsN,	.	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	.	0.0011	0.0002	0.0001	0	0.0015	0.0017	0	0.0005	0.0001537	4	26028	rs750891676	0.0014	0.0015	0.0014	0.0014	0.0017	0.0014	0.0014	0.0016	0.0016	0.0002	0.0003	0.0004	0	0.0013	0.0002	0.0017	0.0013	0.0006	0.0011	0.0011	0.0013	0.0007	0.0019	0.0010	0.0009	0.0016	0.0015	0.0002	0.0044	0.0006	0	0	0.0013	0	0.0019	0.0013	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3617.05	49	chrX	131544885	.	AGTT	A	3617.05	.	AC=2;AF=0.048;AN=42;DP=970;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=34.03;SOR=1.264	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485	20	1	0	0
chrX	131544889	131544889	T	A	exonic	OR13H1	.	nonsynonymous SNV	OR13H1:NM_001004486:exon1:c.T816A:p.F272L,	.	.	431	1088	3	0	0	3	0.00137678	.	.	2341244	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.95	T	0.007	B	0.023	B	0.001	U	1.000	N	-0.58	N	8.84	T	-0.946	T	0.000	T	0.43	-0.773	0.751	1.09	0.203	0.164	0.300	0.108	0.00158157594628	.	.	0.0011	0.0002	0.0001	0	0.0015	0.0017	0	0.0005	0.0008991	139	154602	rs757467764	0.0014	0.0015	0.0014	0.0014	0.0017	0.0014	0.0014	0.0016	0.0016	0.0002	0.0003	0.0004	0	0.0013	0.0002	0.0017	0.0013	0.0006	0.0011	0.0011	0.0013	0.0007	0.0019	0.0010	0.0009	0.0016	0.0015	0.0002	0.0044	0.0006	0	0	0.0013	0	0.0019	0.0013	0.0008	1.0	0.00964	T	0.799	0.04079	T	0.007	0.14184	B	0.023	0.19966	B	0.001046	0.40475	U	0.000000	1	0.08975	N	-0.725	0.01781	N	8.84	0.00038	T	1.35	0.00889	N	0.012	0.00125	-0.9464	0.41582	T	0.000	0.00039	T	10	0.007773459	0.00177	T	0.001582	0.02523	T	0.108	0.30607	0.32	0.29902	0.669000193909	0.66621	0.061974929391086446	0.06137	0.0234709133917	0.02381	0.349167346954	0.17799	T	0.001691	0.01120	T	-0.638944	0.00085	T	-0.736127	0.04056	T	0.0243117022511372	0.01184	T	0.457154	0.13128	T	0.10820618	0.25584	0.09399259	0.22228	0.10820618	0.25584	0.09399259	0.22227	-3.066	0.10909	T	.	.	0.377	0.58239	A	.	.	1.901763	0.24156	16.29	0.48710101547165091	0.04087	0.07250	0.13273	N	AEBI	.	.	.	.	.	.	.	.	.	1.0565014037104E-4	0.05123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.87	1.09	0.19517	-0.220000	0.09220	0.590000	0.19811	0.660000	0.55035	0.000000	0.06391	0.782000	0.26788	0.970000	0.54328	0.1922:0.2289:0.1953:0.3836	0.300	0.00253	29	0.98227	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3617.08	49	chrX	131544889	.	T	A	3617.08	.	AC=2;AF=0.048;AN=42;DP=969;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.47;SOR=1.264	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485	20	1	0	0
chrX	131544891	131544891	T	A	exonic	OR13H1	.	nonsynonymous SNV	OR13H1:NM_001004486:exon1:c.T818A:p.I273N,	.	.	431	1088	3	0	0	3	0.00137678	.	.	2341245	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.996	D	0.963	D	0.125	U	1.000	N	3.635	H	0.97	T	-0.517	T	0.341	T	0.438	3.064	16.23	4.87	1.798	0.685	11.320	0.118	0.0214034358161	9.5e-05	.	0.0011	0.0002	0.0001	0	0.0015	0.0017	0	0.0005	0.0008991	139	154602	rs149043680	0.0014	0.0015	0.0015	0.0014	0.0017	0.0014	0.0014	0.0016	0.0016	0.0002	0.0003	0.0004	0	0.0013	0.0002	0.0017	0.0013	0.0006	0.0011	0.0011	0.0013	0.0007	0.0019	0.0010	0.0009	0.0016	0.0015	0.0002	0.0044	0.0006	0	0	0.0013	0	0.0019	0.0013	0.0008	0.0	0.91255	D	0.0	0.92824	D	0.996	0.68779	D	0.963	0.70837	D	0.125421	0.18843	U	0.378437	1	0.08975	N	3.005	0.85968	M	0.97	0.42502	T	-6.14	0.90140	D	0.246	0.27792	-0.5166	0.68042	T	0.341	0.70697	T	10	0.053870022	0.05648	T	0.021403	0.44162	T	0.118	0.32913	.	.	0.903321698614	0.90236	0.29344813014552984	0.29257	0.187205896589	0.21033	0.323535144329	0.13956	T	0.023512	0.17932	T	-0.436242	0.01361	T	-0.444959	0.28256	T	0.19150668877333	0.19933	T	0.945105	0.79107	D	0.8914657	0.90633	0.8706487	0.92910	0.8914657	0.90634	0.8706487	0.92910	-9.561	0.71238	D	.	.	0.214	0.44293	B	.	.	3.340433	0.46023	22.2	0.99158246534831407	0.54015	0.25615	0.22751	N	AEBI	.	.	.	.	.	.	.	.	.	0.840938064997985	0.24865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.87	4.87	0.62877	0.933000	0.28497	1.919000	0.29697	0.660000	0.55035	0.002000	0.15269	0.655000	0.25985	0.971000	0.54645	0.0:0.0:0.0:1.0	11.320	0.48656	29	0.98227	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3617.08	49	chrX	131544891	.	T	A	3617.08	.	AC=2;AF=0.048;AN=42;DP=969;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.01;SOR=1.264	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485	20	1	0	0
chrX	131544894	131544896	CAG	-	exonic	OR13H1	.	nonframeshift deletion	OR13H1:NM_001004486:exon1:c.821_823del:p.S274_V275delinsL,	.	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	.	0.0011	0.0002	0.0001	0	0.0015	0.0017	0	0.0005	0.0002305	6	26028	rs756700921	0.0014	0.0015	0.0014	0.0014	0.0017	0.0014	0.0014	0.0016	0.0016	0.0002	0.0003	0.0004	0	0.0013	0.0002	0.0017	0.0013	0.0006	0.0011	0.0011	0.0013	0.0007	0.0019	0.0010	0.0009	0.0016	0.0015	0.0002	0.0044	0.0006	0	0	0.0013	0	0.0019	0.0013	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3617.05	49	chrX	131544893	.	TCAG	T	3617.05	.	AC=2;AF=0.048;AN=42;DP=970;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.96;SOR=1.264	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485	20	1	0	0
chrX	131544966	131544966	G	A	exonic	OR13H1	.	nonsynonymous SNV	OR13H1:NM_001004486:exon1:c.G893A:p.R298Q,	.	.	432	1089	0	1	0	2	0.000917431	.	.	706104	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.03	D	0.071	B	0.02	B	0.113	U	1.000	N	0.335	N	1.15	T	-1.043	T	0.032	T	0.156	0.828	8.337	2.97	0.392	0.193	3.356	0.036	.	0.0015	0.00450331	0.0059	0.0005	0.0338	0.0167	0.0002	0.0012	0.0017	0.0010	0.0045989	711	154602	rs57328754	0.0027	0.0027	0.0028	0.0024	0.0290	0.0026	0.0026	0.0275	0.0269	0.0002	0.0290	0.0006	0.0093	0.0005	0.0010	0.0017	0.0025	0.0019	0.0025	0.0025	0.0025	0.0025	0.0164	0.0022	0.0021	0.0130	0.0118	0.0002	0	0.0113	0.0004	0.0164	0.0003	0	0.0015	0.0033	0.0011	0.254	0.16903	T	0.105	0.38016	T	0.071	0.23930	B	0.02	0.19048	B	0.112602	0.19350	U	0.369652	1	0.08975	N	0.22	0.09567	N	1.15	0.38236	T	0.32	0.03955	N	0.062	0.03392	-1.0431	0.16383	T	0.032	0.13635	T	10	0.0031189024	0.00052	T	.	.	.	0.036	0.09122	.	.	0.625611624611	0.62256	0.05160876942779672	0.05102	0.0213590030515	0.02119	0.185172438622	0.00151	T	0.001146	0.00651	T	-0.741415	0.00020	T	-0.81477	0.01561	T	0.00424520009113609	0.00045	T	0.0642936	0.00470	T	0.06876672	0.15009	0.09726598	0.23144	0.06876672	0.15009	0.09726598	0.23143	-3.139	0.11750	T	.	.	0.088	0.11654	B	.	.	1.185942	0.15766	12.09	0.9824939882935777	0.39558	0.02316	0.06643	N	AEFBI	.	.	.	.	.	.	.	.	.	2.46793128973697E-4	0.06141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.87	2.97	0.33479	-0.732000	0.05008	0.490000	0.18893	-0.715000	0.03906	0.000000	0.06391	0.001000	0.17328	0.765000	0.36330	0.2386:0.0:0.5639:0.1975	3.356	0.06751	29	0.98227	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1805.98	49	chrX	131544966	.	G	A	1805.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.17;DP=935;ExcessHet=0.0000;FS=3.917;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.96;ReadPosRankSum=-7.510e-01;SOR=1.050	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	20	0	1	0
chrX	132669134	132669134	C	T	exonic	HS6ST2	.	nonsynonymous SNV	HS6ST2:NM_001077188:exon5:c.G1046A:p.R349Q,	.	.	432	1077	11	2	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.016	B	0.004	B	0.411	U	1.000	D	0.69	N	-0.58	T	-0.900	T	0.226	T	0.085	4.052	20.8	2.31	0.508	1.013	5.732	0.093	0.0192522507933	0.0003	0.0010596	0.0014	0	0.0018	0	0	0.0014	0.0017	0.0044	0.0012031	186	154602	rs201239951	0.0009	0.0009	0.0008	0.0011	0.0039	0.0008	0.0008	0.0031	0.0029	0.0002	0.0015	0.0170	3.323e-05	4.94e-05	0.0039	0.0004	0.0017	0.0035	0.0008	0.0008	0.0007	0.0011	0.0031	0.0007	0.0006	0.0015	0.0011	9.776e-05	0	0.0015	0.0155	0	0	0	0.0004	0.0013	0.0031	0.007	0.59928	D	0.064	0.44905	T	.	.	.	.	.	.	0.410568	0.13002	U	0.423768	1	0.81001	D	.	.	.	-0.58	0.71425	T	-0.69	0.19720	N	0.14	0.13911	-0.9002	0.47973	T	0.226	0.59032	T	10	0.006667018	0.00151	T	0.019252	0.41561	T	0.093	0.26882	.	.	0.652731858869	0.64984	0.5304026432894727	0.52964	0.711249349536	0.61720	0.302379369736	0.10756	T	.	.	.	-0.575706	0.00205	T	-0.603416	0.12526	T	0.037962485685805	0.03325	T	0.59564	0.22108	T	.	.	.	.	.	.	.	.	-2.991	0.10084	T	.	.	0.103	0.18247	B	.;.;.	.;.;.	2.947622	0.39208	20.9	0.9993386130405435	0.99535	0.54775	0.29698	D	AEFBI	.	.	.	.	.	.	.	.	.	0.84818917095557	0.24993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.09	2.31	0.27816	1.021000	0.29642	0.502000	0.19004	0.599000	0.40250	1.000000	0.71638	0.915000	0.28207	0.996000	0.76049	0.0:0.7504:0.0:0.2496	5.732	0.17314	498	0.76166	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	998.98	33	chrX	132669134	.	C	T	998.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.000e-02;DP=801;ExcessHet=0.0000;FS=3.376;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.12;ReadPosRankSum=-2.000e-01;SOR=0.587	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1019	20	0	1	0
chrX	134809342	134809342	T	C	exonic	FAM122C	.	nonsynonymous SNV	FAM122C:NM_001170781:exon2:c.T266C:p.I89T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.269e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0918487	0.16123	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183553	0.53593	T	.	.	.	.	.	.	.	.	.	0.0444955	0.00313	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.66251	A	.;.;.;.	.;.;.;.	0.204134	0.05883	2.325	0.59356554914580506	0.06205	0.00180	0.01055	N	AEBI	.	.	.	.	.	.	.	.	.	0.99115133534266	0.32391	.	.	.	.	.	.	.	.	.	.	.	.	0.0476178	0.06944	0.654	-1.31	0.08749	-0.288000	0.08412	0.753000	0.21252	0.258000	0.18382	0.002000	0.15269	0.001000	0.17328	0.075000	0.16954	.	.	.	571	0.70397	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07692	35.46	39	chrX	134809342	.	T	C	35.46	.	AC=2;AF=0.077;AN=26;DP=39;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3415;MLEAC=2;MLEAF=0.077;MQ=60.00;QD=17.73;SOR=0.693	GT:AD:DP:GQ:PL	0/0:3,0:3:9:0,9,88	12	1	0	8
chrX	134821493	134821493	C	T	exonic	FAM122C	.	nonsynonymous SNV	FAM122C:NM_001170782:exon4:c.C214T:p.R72W,	.	.	433	1088	0	1	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013245	0.0013	0	0	0	0	0	0	0.0042	0.0002717	42	154602	rs769323901	0.0002	0.0002	0.0001	0.0003	0.0035	0.0002	0.0002	0.0030	0.0029	0	0.0001	0	0	0	0.0002	1.225e-06	0.0002	0.0035	6.316e-05	9.576e-05	5.143e-05	9.076e-05	0.0019	2.92e-05	2.083e-05	0.0007	0.0005	0	0	9.756e-05	0	0	0	0	1.887e-05	0	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1771.98	40	chrX	134821493	.	C	T	1771.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.24;DP=972;ExcessHet=0.0000;FS=1.294;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=-9.200e-02;SOR=0.857	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chrX	135577251	135577251	G	A	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon14:c.G1832A:p.R611H	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.996	D	0.781	P	0.032	N	1.000	D	2.395	M	1.31	T	-0.741	T	0.194	T	0.254	5.291	33	5.2	2.316	4.686	17.027	0.083	0.587860412956	.	0.000264901	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs185499443	2.003e-05	2.003e-05	2.314e-05	1.375e-05	0.0002	1.311e-05	1.12e-05	1.254e-05	1.005e-05	7.575e-05	0	0	0	0	0.0002	2.019e-05	4.339e-05	0	3.59e-05	3.481e-05	3.857e-05	2.971e-05	6.534e-05	1.138e-05	6.65e-06	1.082e-05	4.05e-06	6.534e-05	0	0	0	0	0	0	3.768e-05	0	0	0.003	0.68238	D	0.039	0.51112	D	0.996	0.68779	D	0.781	0.57337	P	0.031570	0.25149	N	0.480270	0.999794	0.49177	D	.	.	.	1.31	0.35405	T	-3.57	0.68999	D	0.061	0.03283	-0.7410	0.58401	T	0.194	0.54782	T	10	0.26232415	0.43699	T	0.58786	0.96329	D	0.083	0.24192	.	.	0.663804669403	0.66098	0.4401763402996682	0.43934	1.49335097258	0.86919	0.387561738491	0.23326	T	0.156609	0.49886	T	-0.187442	0.22636	T	-0.507024	0.21621	T	0.975002527236938	0.70747	D	0.883212	0.61387	D	0.39518315	0.60397	0.42923293	0.66611	0.39518315	0.60398	0.42923293	0.66612	-7.054	0.54427	T	.	.	0.384	0.58640	A	.;.	.;.	3.993854	0.58801	24.0	0.99929015604374327	0.99279	0.97042	0.72354	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999558204	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.2	5.2	0.71720	4.797000	0.62197	8.754000	0.78223	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.027	0.86324	91	0.96221	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1402.98	97	chrX	135577251	.	G	A	1402.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.58;DP=797;ExcessHet=0.0000;FS=0.825;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.46;ReadPosRankSum=0.979;SOR=0.849	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,114,1590	20	0	1	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.741	P	0.621	P	0.000	D	0.998	D	2.095	M	1.12	T	-0.845	T	0.185	T	0.728	2.907	15.69	4.88	2.356	4.577	16.741	0.116	0.320721839563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.144	0.33109	T	0.054	0.22658	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.998439	0.44913	D	.	.	.	1.12	0.38718	T	-1.47	0.35991	N	0.585	0.60579	-0.8446	0.52338	T	0.185	0.53376	T	10	0.3336386	0.50551	T	0.320722	0.91466	D	0.116	0.32463	0.358	0.36060	0.707954595072	0.70541	0.7275652152813423	0.72700	1.18866698664	0.80215	0.648726463318	0.59806	T	0.054	0.29627	T	0.00945918	0.52950	T	-0.224189	0.52332	T	0.882806301116943	0.53294	D	0.539346	0.18229	T	0.6511502	0.75426	0.50532985	0.71408	0.6511502	0.75427	0.50532985	0.71409	-8.677	0.65596	D	.	.	0.978	0.90664	P	.;.	.;.	3.376911	0.46690	22.3	0.98498159316290479	0.42180	0.97707	0.76556	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999042486774	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	4.88	0.63131	4.677000	0.61324	5.234000	0.48040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.741	0.85319	91	0.96221	INTS6/SAGE1/DDX26B/CT45, C-terminal;INTS6/SAGE1/DDX26B/CT45, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	903.93	74	chrX	135580144	.	G	C	903.93	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-1.040e+00;DP=1536;ExcessHet=20.9642;FS=227.873;InbreedingCoeff=-0.6099;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=0.503;SOR=12.634	GT:AD:DP:GQ:PL	0/0:26,8:34:16:0,16,480	5	0	16	0
chrX	135901671	135901671	C	T	exonic	SAGE1	.	nonsynonymous SNV	SAGE1:NM_001381902:exon3:c.C200T:p.S67L	.	.	425	1080	9	8	0	25	0.0114416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.004	B	0.001	B	0.000	N	1.000	N	-0.46	N	1.54	T	-1.054	T	0.017	T	0.045	-2.283	0.004	-2.67	-0.837	-2.836	5.011	0.039	.	0.0059	0.00450331	0.0081	0.0012	0.0057	0	0.0077	0.0103	0.0049	0.0116	0.0072832	1126	154602	rs143643223	0.0086	0.0086	0.0085	0.0088	0.0108	0.0084	0.0084	0.0101	0.0098	0.0013	0.0052	0.0129	3.318e-05	0.0084	0.0085	0.0090	0.0082	0.0108	0.0057	0.0058	0.0057	0.0055	0.0112	0.0053	0.0051	0.0081	0.0070	0.0011	0.0029	0.0062	0.0124	0.0006	0.0070	0	0.0078	0.0066	0.0112	0.825	0.02921	T	1.0	0.01155	T	0.0	0.12183	B	0.0	0.04355	B	0.000172	0.48594	N	0.136757	1	0.08975	N	-0.55	0.02420	N	1.51	0.30937	T	0.26	0.04380	N	0.046	0.03392	-1.0543	0.13225	T	0.017	0.06807	T	10	0.0046487153	0.00097	T	.	.	.	0.039	0.10176	.	.	0.195762928549	0.19159	0.004705424765767787	0.00443	.	.	0.245691627264	0.03328	T	0.001809	0.01403	T	-0.942697	0.00000	T	-1.1175	0.00019	T	0.00177517519927836	0.00018	T	0.374163	0.08891	T	0.027866019	0.02039	0.047462787	0.06840	0.027866019	0.02039	0.047462787	0.06840	-4.531	0.31292	T	.	.	0.053	0.00254	B	.;.;.	.;.;.	-1.417698	0.00348	0.006	0.12362820853464315	0.00212	0.00013	0.00170	N	AEFI	.	.	.	.	.	.	.	.	.	3.18483205343529E-4	0.06498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.33	-2.67	0.05703	-1.851000	0.01761	-20.000000	0.00162	-0.580000	0.04711	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.5721:0.0:0.4279	5.011	0.13656	151	0.94052	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2489.98	33	chrX	135901671	.	C	T	2489.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.017;DP=906;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.45;MQRankSum=-2.184e+00;QD=11.80;ReadPosRankSum=0.870;SOR=0.716	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1214	20	0	1	0
chrX	136492148	136492148	G	A	exonic	BRS3	.	nonsynonymous SNV	BRS3:NM_001727:exon3:c.G973A:p.V325I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.998	D	0.924	D	0.000	D	0.997	D	1.37	L	1.26	T	-0.976	T	0.168	T	0.343	3.631	18.47	5.81	2.439	3.638	19.017	0.135	0.517257361167	.	.	5.699e-05	0	0	0	0	2.084e-05	0	0.0004	5.82e-05	9	154602	rs780571965	2.368e-05	2.367e-05	1.225e-05	4.677e-05	0.0004	1.647e-05	1.399e-05	0.0002	0.0002	0	8.522e-05	0	0	0	0	2.375e-06	2.169e-05	0.0004	2.727e-05	3.491e-05	0	9.288e-05	0.0003	7.25e-06	3.01e-06	7.857e-05	4.217e-05	0	0	0.0003	0	0	0	0	0	0	0	0.014	0.53172	D	0.029	0.54541	D	0.998	0.73220	D	0.924	0.65913	D	0.000003	0.62929	D	0.000000	0.997248	0.43737	D	1.155	0.29575	L	1.26	0.36330	T	-0.53	0.16393	N	0.046	0.01825	-0.9755	0.36015	T	0.168	0.50762	T	10	0.5012338	0.61560	D	0.517257	0.95392	D	0.135	0.36572	0.579	0.70476	0.496990393407	0.49334	0.3986937567886036	0.39784	0.638895557223	0.57580	0.527066469193	0.42621	T	0.102981	0.41121	T	-0.399205	0.02343	T	-0.508077	0.21512	T	0.150316784323368	0.17128	T	0.886711	0.61387	D	0.37115154	0.58670	0.35531422	0.61061	0.37115154	0.58670	0.35531422	0.61060	-4.232	0.27212	T	.	.	0.116	0.23535	B	.	.	3.429851	0.47660	22.5	0.99808082570989021	0.89264	0.85817	0.44993	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999999999889971	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.81	5.81	0.92413	4.521000	0.60248	7.555000	0.60355	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.017	0.92878	719	0.55657	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2876.98	36	chrX	136492148	.	G	A	2876.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.905;DP=999;ExcessHet=0.0000;FS=2.269;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=0.598;SOR=0.755	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1142	20	0	1	0
chrX	136875533	136875533	C	T	exonic	RBMX	.	nonsynonymous SNV	RBMX:NM_001164803:exon4:c.G269A:p.R90H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.892	P	0.032	B	.	.	1.000	D	.	.	3.06	T	-0.778	T	0.006	T	.	1.176	9.782	0.479	0.020	-0.230	4.178	0.135	0.0276807064717	0.0017	0.0013245	0.0006	0.0037	0.0003	0	0	0.0003	0.0016	9.894e-05	0.000414	64	154602	rs146041009	0.0003	0.0003	0.0003	0.0003	0.0033	0.0002	0.0002	0.0027	0.0025	0.0033	0.0004	0.0027	0	0	0.0022	9.975e-05	0.0007	1.848e-05	0.0011	0.0011	0.0011	0.0010	0.0028	0.0010	0.0009	0.0023	0.0021	0.0028	0	0.0023	0.0030	0	0	0.0046	7.521e-05	0.0013	0	0.001	0.78490	D	0.102	0.38450	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.06	0.08634	T	-2.02	0.46503	N	0.153	0.15749	-0.7781	0.56409	T	0.006	0.02168	T	7	0.003775984	0.00070	T	0.027681	0.50460	D	0.135	0.36572	.	.	0.284112513307	0.28011	.	.	.	.	.	.	.	.	.	.	-0.273503	0.11369	T	-0.630644	0.10366	T	0.00834481131533364	0.00101	T	0.417158	0.10968	T	.	.	.	.	.	.	.	.	-2.444	0.05410	T	.	.	0.064	0.01762	B	.	.	0.365468	0.07381	4.003	0.9684539224068176	0.31320	0.39335	0.26190	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999594460471771	0.40745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6	0.479	0.16007	-0.351000	0.07760	-0.241000	0.10591	-1.953000	0.00482	0.137000	0.23458	0.000000	0.08366	0.363000	0.25954	0.0763:0.3698:0.1895:0.3644	4.178	0.09821	681	0.59854	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	709.98	34	chrX	136875533	.	C	T	709.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=703;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=-7.830e-01;SOR=0.627	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,1215	20	0	1	0
chrX	136878005	136878005	G	T	exonic	RBMX	.	nonsynonymous SNV	RBMX:NM_002139:exon4:c.C298A:p.P100T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.594	P	0.164	B	0.000	U	1.000	D	1.73	L	-0.81	T	-0.745	T	0.262	T	0.408	2.906	15.68	4.5	1.038	5.216	11.535	0.190	0.0513297472878	.	.	0.0005	0	0	0	0	0	0	0.0043	0.0003105	48	154602	rs758107731	0.0001	0.0002	0.0001	0.0002	0.0028	0.0001	0.0001	0.0025	0.0023	0	0	0	0	0	0.0005	1.189e-06	0.0001	0.0028	6.276e-05	9.58e-05	6.426e-05	5.93e-05	0.0026	2.904e-05	2.073e-05	0.0012	0.0009	0	0	0	0	0	0	0	0	0	0.0026	0.296	0.14694	T	0.544	0.17217	T	0.594	0.39171	P	0.164	0.34953	B	0.000044	0.53742	U	0.076410	0.999872	0.81001	D	1.525	0.38595	L	-0.81	0.73949	T	-0.19	0.14588	N	0.282	0.31925	-0.7452	0.58185	T	0.262	0.63318	T	10	0.009608328	0.00216	T	0.05133	0.64618	D	0.190	0.46781	0.303	0.27164	0.7809007154	0.77887	0.5726442724491204	0.57192	1.84610466247	0.92230	0.606217861176	0.53782	T	0.014277	0.12184	T	-0.364674	0.03873	T	-0.30122	0.44596	T	0.0572123973585771	0.06723	T	0.952605	0.81930	D	0.18985805	0.40546	0.17775841	0.40399	0.18985805	0.40546	0.17775841	0.40398	-4.751	0.34015	T	.	.	0.116	0.23430	B	.;.	.;.	3.758855	0.53924	23.4	0.99444462407844836	0.64921	0.94251	0.60575	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999996568235534	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.37	4.5	0.54382	5.201000	0.64999	6.436000	0.55643	0.670000	0.69193	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0854:0.0:0.9146:0.0	11.535	0.49885	681	0.59854	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1238.98	35	chrX	136878005	.	G	T	1238.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.80;DP=877;ExcessHet=0.0000;FS=4.956;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.70;MQRankSum=1.79;QD=11.26;ReadPosRankSum=-2.100e-02;SOR=1.175	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1620	20	0	1	0
chrX	137566826	137566828	CGC	-	exonic	ZIC3	.	nonframeshift deletion	ZIC3:NM_001330661:exon1:c.135_137del:p.A55del	Congenital heart defects, nonsyndromic, 1, X-linked, X-linked recessive;Heterotaxy, visceral, 1, X-linked, X-linked recessive;VACTERL association, X-linked, X-linked recessive	.	1	1491	21	2	7	32	0.00831393	.	.	574323	ZIC3-related_disorder|Heterotaxy,_visceral,_1,_X-linked	.|MONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955,Orphanet:450	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0568	.	0.0035	0	0.0030	0	0	0.0021	0.0106	0.0055	0.0001537	4	26028	rs748325646	0.0003	0.0011	0.0003	0.0004	0.0051	0.0003	0.0003	0.0046	0.0044	8.063e-05	7.168e-05	5.404e-05	0.0001	0.0012	0.0003	4.037e-05	0.0003	0.0051	0.0002	0.0002	0.0001	0.0002	0.0056	9.641e-05	7.947e-05	0.0034	0.0028	3.234e-05	0	0	0	0	0	0	1.89e-05	0	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	207.94	35	chrX	137566825	.	ACGC	A	207.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.210e-01;DP=853;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.96;ReadPosRankSum=-1.710e-01;SOR=0.540	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1062	20	0	1	0
chrX	139537098	139537098	C	A	exonic	F9	.	nonsynonymous SNV	F9:NM_000133:exon2:c.C177A:p.N59K	Hemophilia B, X-linked recessive;Thrombophilia, X-linked, due to factor IX defect	.	.	.	.	.	.	.	.	.	.	982276	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.335	M	-5.51	D	1.091	D	0.976	D	0.438	3.118	16.42	3.43	0.415	0.328	9.214	0.891	0.666558300786	9.5e-05	.	3.432e-05	0	0	0	0	4.177e-05	0.0016	0	2.59e-05	4	154602	rs139089559	1.914e-05	1.912e-05	2.315e-05	1.103e-05	0.0001	1.23e-05	1.044e-05	3.013e-05	1.635e-05	0.0001	0	0	3.319e-05	4.935e-05	0	1.664e-05	0	1.85e-05	2.68e-05	2.614e-05	3.857e-05	0	6.491e-05	7.12e-06	2.98e-06	1.075e-05	4.02e-06	6.491e-05	0	0	0	0	0	0	1.88e-05	0	0	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999981	0.54805	D	3.6	0.93737	H	-5.51	0.99156	D	-4.4	0.78388	D	0.74	0.74007	1.091	0.99267	D	0.976	0.99241	D	10	0.9503498	0.94369	D	0.666558	0.97210	D	0.891	0.96873	0.796	0.91657	0.981983838483	0.98179	0.9961364674261466	0.99611	0.458922690913	0.45492	0.616031706333	0.55167	T	0.965093	0.99577	D	0.0856872	0.62700	D	0.077643	0.75421	D	0.956570446491241	0.64792	D	0.817418	0.47426	T	0.9775006	0.98913	0.9149807	0.96043	0.9775006	0.98913	0.9149807	0.96044	-10.025	0.74734	D	.	.	0.709	0.78898	P	.;.	.;.	2.437603	0.31368	18.72	0.99679912991645658	0.79174	0.85217	0.44330	D	AEFGI	.	.	.	.	.	.	.	.	.	0.00688624766540365	0.11333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.19	3.43	0.38372	0.028000	0.13533	-0.714000	0.07736	-0.813000	0.03045	0.873000	0.30851	0.007000	0.19602	0.975000	0.56047	0.0:0.8163:0.0:0.1837	9.214	0.36498	924	0.18029	Gamma-carboxyglutamic acid-rich (GLA) domain|Gamma-carboxyglutamic acid-rich (GLA) domain|Gamma-carboxyglutamic acid-rich (GLA) domain|Gamma-carboxyglutamic acid-rich (GLA) domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1265.08	35	chrX	139537098	.	C	A	1265.08	.	AC=2;AF=0.048;AN=42;DP=713;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.42;SOR=0.941	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1072	20	1	0	0
chrX	139826766	139826766	C	T	exonic	ATP11C	.	nonsynonymous SNV	ATP11C:NM_001010986:exon2:c.G94A:p.V32I	.	.	437	1083	2	0	0	2	0.000922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.0	B	0.002	B	0.088	N	1.000	N	0.48	N	0.57	T	-1.083	T	0.061	T	0.029	0.920	8.745	-1.13	-0.242	-0.851	1.740	0.042	0.00544947197146	.	0.0010596	0.0006	0.0002	0	0	0	0	0	0.0053	0.0006598	102	154602	rs768884689	0.0003	0.0003	0.0002	0.0005	0.0058	0.0003	0.0003	0.0052	0.0050	7.597e-05	0	0	0	0	0.0002	4.765e-06	0.0003	0.0058	0.0001	0.0001	7.71e-05	0.0002	0.0041	6.098e-05	4.796e-05	0.0023	0.0018	3.237e-05	0	0	0	0	0	0	0	0	0.0041	0.399	0.10517	T	0.4	0.15010	T	0.0	0.02946	B	0.001	0.06944	B	0.088010	0.20503	N	0.482234	0.999999	0.08975	N	0.61	0.15665	N	0.57	0.54347	T	-0.21	0.11185	N	0.02	0.00445	-1.0830	0.06776	T	0.061	0.25635	T	10	0.0040671825	0.00079	T	0.005449	0.14015	T	0.042	0.11227	0.319	0.29741	0.117191471859	0.11215	0.24162465651941567	0.24076	0.364172412179	0.38030	0.251617580652	0.03940	T	0.04049	0.25543	T	-0.837926	0.00003	T	-0.975171	0.00193	T	0.00873280373551349	0.00107	T	0.739826	0.36463	T	0.06267196	0.13115	0.04027875	0.04316	0.06677326	0.14398	0.037765484	0.03500	-4.376	0.29230	T	.	.	0.071	0.05668	B	.;.;.	.;.;.	0.073895	0.04817	1.421	0.9329271089721185	0.23001	0.07694	0.13697	N	ALL	.	.	.	.	.	.	.	.	.	0.999999997643421	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.03	-1.13	0.09274	-1.930000	0.01648	-0.315000	0.10009	0.549000	0.26987	0.000000	0.06391	0.120000	0.22892	0.990000	0.65344	0.1347:0.3899:0.13:0.3454	1.740	0.02773	974	0.05496	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1625.98	34	chrX	139826766	.	C	T	1625.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.392;DP=824;ExcessHet=0.0000;FS=0.642;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=-4.700e-01;SOR=0.611	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1142	20	0	1	0
chrX	140092442	140092442	C	G	exonic	LOC389895	.	nonsynonymous SNV	LOC389895:NM_001271560:exon1:c.C700G:p.P234A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1021737324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2017.98	173	chrX	140092442	.	C	G	2017.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.020e-01;DP=899;ExcessHet=0.0000;FS=1.183;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.66;ReadPosRankSum=-5.300e-02;SOR=0.771	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1027	20	0	1	0
chrX	141002698	141002698	G	A	exonic	SPANXB1	.	nonsynonymous SNV	SPANXB1:NM_032461:exon1:c.G5A:p.G2D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-0.92	N	3.42	T	-0.980	T	0.004	T	0.171	-2.798	0	.	-2.175	-1.836	.	0.036	0.174944969968	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1489607447	3.644e-06	4.644e-05	4.085e-06	2.752e-06	3.314e-05	8.5e-07	5.8e-07	.	.	0	2.841e-05	0	3.314e-05	0	0	1.188e-06	2.173e-05	0	3.501e-05	8.693e-05	5.138e-05	0	9.447e-05	1.118e-05	6.51e-06	2.503e-05	1.293e-05	9.447e-05	0	0	0	0	0	0	1.867e-05	0	0	1.0	0.00964	T	0.83	0.03717	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	3.42	0.05507	T	3.49	0.00088	N	0.129	0.12341	-0.9803	0.34932	T	0.004	0.01365	T	7	0.101397336	0.18524	T	0.956671	0.99710	D	0.048	0.13305	0.368	0.37687	0.0762999501168	0.06990	0.0013652190435889872	0.00126	.	.	.	.	.	0.001901	0.01317	T	-0.516307	0.00462	T	-0.979416	0.00183	T	0.017921037392752	0.00518	T	0.210779	0.02549	T	0.29532337	0.52483	0.49253887	0.70646	0.29532337	0.52482	0.49253887	0.70647	-3.082	0.11090	T	.	.	0.065	0.01859	B	.	.	-0.813678	0.01081	0.048	0.10498859933170923	0.00134	0.00130	0.00805	N	AEFGI	.	.	.	.	.	.	.	.	.	1.57588558597822E-4	0.05650	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.839000	0.01779	-1.303000	0.05769	-1.688000	0.00776	0.423000	0.26353	0.000000	0.08366	0.001000	0.02609	.	.	.	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	664.98	76	chrX	141002698	.	G	A	664.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.460e-01;DP=1805;ExcessHet=0.0000;FS=0.616;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.80;ReadPosRankSum=0.855;SOR=0.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,120,1800	20	0	1	0
chrX	141002700	141002700	C	A	exonic	SPANXB1	.	nonsynonymous SNV	SPANXB1:NM_032461:exon1:c.C7A:p.Q3K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-0.41	N	3.3	T	-0.955	T	0.005	T	0.213	-2.764	0	.	-2.490	-2.406	.	0.043	0.197173342896	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259136219	3.644e-06	4.462e-05	4.085e-06	2.752e-06	3.314e-05	8.5e-07	5.8e-07	.	.	0	2.841e-05	0	3.314e-05	0	0	1.188e-06	2.173e-05	0	3.502e-05	8.694e-05	5.138e-05	0	9.447e-05	1.118e-05	6.51e-06	2.503e-05	1.293e-05	9.447e-05	0	0	0	0	0	0	1.868e-05	0	0	1.0	0.00964	T	0.46	0.12597	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	3.3	0.06368	T	0.04	0.06488	N	0.108	0.09349	-0.9550	0.40096	T	0.005	0.01651	T	7	0.12508819	0.23766	T	0.952237	0.99675	D	0.045	0.12272	0.331	0.31681	0.165133752707	0.16062	0.002219422540313533	0.00205	.	.	.	.	.	0.002738	0.02136	T	-0.519706	0.00442	T	-0.984298	0.00171	T	0.0147115752779718	0.00306	T	0.207979	0.02486	T	0.37449184	0.58914	0.31594577	0.57578	0.37449184	0.58915	0.31594577	0.57577	-2.352	0.04847	T	.	.	0.080	0.07697	B	.	.	-0.828410	0.01052	0.045	0.23927780063318618	0.01034	0.00199	0.01145	N	AEFGI	.	.	.	.	.	.	.	.	.	3.31293657876148E-4	0.06583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.300000	0.01219	-9.105000	0.00867	-1.852000	0.00570	0.323000	0.25529	0.000000	0.08366	0.001000	0.02609	.	.	.	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	664.98	76	chrX	141002700	.	C	A	664.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.660e-01;DP=1801;ExcessHet=0.0000;FS=0.616;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.80;ReadPosRankSum=1.00;SOR=0.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,120,1800	20	0	1	0
chrX	141002778	141002778	A	G	exonic	SPANXB1	.	nonsynonymous SNV	SPANXB1:NM_032461:exon1:c.A85G:p.K29E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	0.046	B	0.013	B	.	.	1.000	N	0	N	3.2	T	-0.926	T	0.009	T	0.147	-0.705	0.957	.	0.000	0.000	.	0.010	0.490410965177	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1413270893	3.015e-05	4.766e-05	2.356e-05	4.414e-05	0.0005	2.181e-05	1.867e-05	0.0003	0.0003	0	2.859e-05	5.27e-05	0	0	0.0005	2.472e-06	2.232e-05	0.0005	9.264e-06	3.623e-05	1.327e-05	0	3.205e-05	0	0	.	.	3.205e-05	0	0	0	0	0	0	0	0	0	0.255	0.16848	T	0.0	0.92824	D	0.046	0.21875	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	0.71	0.02130	N	0.156	0.16168	-0.9264	0.44659	T	0.009	0.03140	T	7	0.153458	0.28965	T	0.810796	0.98525	D	0.010	0.01040	0.376	0.38994	0.17258766438	0.16869	5.155462172028699E-4	0.00047	.	.	.	.	.	6.67E-4	0.00291	T	-0.479234	0.00747	T	-0.926163	0.00349	T	0.0435153923911886	0.04332	T	0.193081	0.02071	T	0.25475404	0.48506	0.36679494	0.62002	0.25475404	0.48506	0.36679494	0.62001	-0.492	0.00579	T	.	.	0.065	0.01986	B	.	.	0.714838	0.10837	7.517	0.50371471360100617	0.04372	0.01882	0.05788	N	AEFGI	.	.	.	.	.	.	.	.	.	4.65814759757675E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.12910	0.000000	0.13247	0.000000	0.17513	0.935000	0.32453	0.000000	0.08366	0.092000	0.17891	.	.	.	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	106.98	76	chrX	141002778	.	A	G	106.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.393e+00;DP=1741;ExcessHet=0.0000;FS=1.434;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.86;MQRankSum=0.526;QD=0.35;ReadPosRankSum=0.645;SOR=0.555	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	20	0	1	0
chrX	141241591	141241591	C	T	exonic	SPANXC	.	nonsynonymous SNV	SPANXC:NM_022661:exon2:c.G220A:p.E74K,	.	.	485	1035	2	0	0	2	0.000965251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.0	B	0.002	B	.	.	1.000	N	1.435	L	2.87	T	-1.004	T	0.017	T	0.199	0.034	4.190	.	0.328	0.064	.	0.054	.	0.0028	0.00370861	0.0012	0.0114	0.0004	0.0002	0.0002	0	0	0.0005	0.0006147	16	26028	rs144140529	0.0005	0.0010	0.0006	0.0001	0.0046	0.0004	0.0004	0.0040	0.0037	0.0038	0.0017	0.0004	0.0046	0	0	0.0002	0.0010	0.0004	0.0021	0.0034	0.0025	8.653e-05	0.0126	0.0018	0.0017	0.0081	0.0067	0.0045	0	0.0022	0.0013	0.0126	0	0	0.0002	0.0013	0.0009	0.079	0.33753	T	0.174	0.30045	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	2.87	0.10386	T	-2.96	0.61722	D	0.03	0.00717	-1.0044	0.28636	T	0.017	0.06998	T	7	0.0074335635	0.00169	T	.	.	.	0.054	0.15330	.	.	0.162503812791	0.15892	0.02255201064952654	0.02207	1.80444484246	0.91712	0.552129626274	0.46158	T	0.02339	0.17862	T	-0.803484	0.00007	T	-0.922079	0.00368	T	0.00340634439614215	0.00036	T	0.49935	0.15589	T	0.42769095	0.62601	0.55343646	0.74175	0.42769095	0.62601	0.55343646	0.74176	-2.947	0.09621	T	.	.	0.249	0.48417	B	.	.	1.629340	0.20803	14.92	0.85525766617131993	0.15947	0.00193	0.01117	N	AEFI	.	.	.	.	.	.	.	.	.	1.15699708666578E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.602000	0.05776	.	.	0.203000	0.17936	0.009000	0.18154	0.000000	0.08366	0.005000	0.06747	.	.	.	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1306.98	35	chrX	141241591	.	C	T	1306.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.654e+00;DP=987;ExcessHet=0.0000;FS=3.598;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=45.96;MQRankSum=3.61;QD=7.64;ReadPosRankSum=-3.467e+00;SOR=0.897	GT:AD:DP:GQ:PL	0/0:60,0:60:99:0,114,1710	20	0	1	0
chrX	141697582	141697582	A	C	exonic	SPANXD	.	nonsynonymous SNV	SPANXD:NM_032417:exon2:c.T177G:p.F59L,	.	.	448	1073	0	1	0	2	0.000931099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.001	B	0.004	B	.	.	1.000	N	.	.	3.37	T	-0.931	T	0.011	T	0.21	0.494	6.679	.	0.358	0.072	.	0.007	.	.	.	0.1278	0.1912	0.1492	0.0663	0.1286	0.1287	0.1	0.0933	0.122392	18922	154602	rs1059179	0.0003	0.0005	0.0003	0.0005	0.0069	0.0003	0.0003	0.0061	0.0058	0.0013	0.0003	0.0004	0.0069	0	0	4.767e-05	0.0007	0.0006	0.0007	0.0022	0.0010	3.12e-05	0.0058	0.0006	0.0005	0.0038	0.0032	0.0017	0	9.699e-05	0.0004	0.0058	0	0	5.726e-05	0	0.0008	0.099	0.30656	T	0.262	0.22895	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	.	.	.	3.37	0.05847	T	0.1	0.05810	N	0.032	0.00825	-0.9312	0.43963	T	0.011	0.04134	T	6	0.002481401	0.00037	T	.	.	.	0.007	0.00512	0.222	0.14518	.	.	0.002543207102614836	0.00236	6.5508806655E-4	0.00063	.	.	.	0.002088	0.01490	T	-0.864755	0.00002	T	-0.93746	0.00304	T	0.000143023294762927	0.00001	T	0.338066	0.07246	T	0.109959066	0.25994	0.18032092	0.40823	0.109959066	0.25994	0.18032092	0.40823	-2.404	0.05157	T	.	.	0.543	0.66497	A	.	.	0.058166	0.04700	1.338	0.76663715438598801	0.11559	0.00267	0.01455	N	AEI	.	.	.	.	.	.	.	.	.	1.17943017809801E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.488000	0.06578	.	.	-1.340000	0.01205	0.007000	0.17678	0.000000	0.08366	0.001000	0.02609	.	.	.	987	0.02648	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.02381	292.98	36	chrX	141697582	.	A	C	292.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.98;DP=1299;ExcessHet=0.0000;FS=37.606;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=52.72;MQRankSum=-6.472e+00;QD=1.49;ReadPosRankSum=-1.594e+00;SOR=4.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485	20	0	1	0
chrX	141697584	141697584	A	C	exonic	SPANXD	.	nonsynonymous SNV	SPANXD:NM_032417:exon2:c.T175G:p.F59V,	.	.	448	1073	0	1	0	2	0.000931099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.0	B	.	.	1.000	N	.	.	3.46	T	-0.929	T	0.007	T	0.147	-2.675	0	.	-2.341	-2.376	.	0.014	.	.	.	0.1280	0.1911	0.1489	0.0664	0.1287	0.1291	0.0998	0.0935	0.122508	18940	154602	rs1059178	0.0003	0.0005	0.0003	0.0004	0.0069	0.0003	0.0003	0.0062	0.0059	0.0012	0.0002	0.0004	0.0069	0	0	4.767e-05	0.0006	0.0006	0.0007	0.0022	0.0009	3.116e-05	0.0061	0.0005	0.0005	0.0041	0.0034	0.0015	0	9.673e-05	0.0004	0.0061	0	0	5.721e-05	0	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	3.46	0.05249	T	1.39	0.00846	N	0.04	0.01347	-0.9290	0.44284	T	0.007	0.02518	T	6	0.0030126572	0.00049	T	.	.	.	0.014	0.01968	.	.	.	.	0.0037548928829723997	0.00351	6.18377004847E-4	0.00059	.	.	.	0.001182	0.00684	T	-0.925117	0.00000	T	-1.01479	0.00113	T	0.000251681771553671	0.00002	T	0.279972	0.04873	T	0.06468569	0.13749	0.18236877	0.41160	0.06468569	0.13749	0.18236877	0.41159	-2.648	0.06877	T	.	.	0.049	0.00117	B	.	.	-0.299377	0.02620	0.328	0.12841224857465558	0.00235	0.00017	0.00201	N	AEFI	.	.	.	.	.	.	.	.	.	6.6803492725993E-5	0.04366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.105000	0.01427	.	.	-1.874000	0.00549	0.004000	0.16614	0.000000	0.08366	0.000000	0.00833	.	.	.	987	0.02648	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.02381	292.98	36	chrX	141697584	.	A	C	292.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.452;DP=1301;ExcessHet=0.0000;FS=37.606;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=52.53;MQRankSum=-6.472e+00;QD=1.49;ReadPosRankSum=-1.864e+00;SOR=4.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485	20	0	1	0
chrX	141905984	141905984	C	G	exonic	MAGEC1	.	nonsynonymous SNV	MAGEC1:NM_005462:exon4:c.C580G:p.P194A,	.	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.012	B	0.0	B	.	.	1.000	N	0	N	4.47	T	-0.903	T	0.004	T	0.092	-2.118	0.006	.	-2.490	-3.104	0.132	0.160	0.00949479768985	.	.	0.0030	0.0004	0.0006	0.0014	0.0016	0.0047	0	0.0008	0.000461	12	26028	rs78963072	0.0023	0.0025	0.0027	0.0015	0.0032	0.0022	0.0022	0.0019	0.0016	0.0003	0.0005	0.0411	0.0011	0.0014	0.0032	0.0017	0.0041	0.0006	0.0022	0.0025	0.0025	0.0015	0.0020	0.0020	0.0019	0.0017	0.0016	0.0005	0	0.0010	0.0394	0.0011	0.0010	0	0.0020	0.0007	0.0008	0.0	0.91255	D	0.058	0.46182	T	0.012	0.16265	B	0.0	0.01387	B	.	.	.	.	1	0.20721	N	-0.255	0.03828	N	4.47	0.02084	T	-0.66	0.19085	N	0.042	0.01498	-0.9029	0.47684	T	0.004	0.01125	T	8	0.0047519505	0.00100	T	0.009495	0.24855	T	0.160	0.41473	.	.	0.0482279557977	0.04254	0.00836871272749026	0.00800	.	.	0.453550577164	0.32429	T	0.004747	0.04164	T	-0.823433	0.00005	T	-0.959885	0.00233	T	0.00732511625089024	0.00084	T	0.281272	0.04917	T	0.033229418	0.03500	0.095803946	0.22736	0.033229418	0.03499	0.095803946	0.22735	-4.336	0.28678	T	.	.	0.183	0.39714	B	.	.	0.253917	0.06330	2.790	0.43679918256768041	0.03305	0.00985	0.03747	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.00208082475822854	0.09135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.126000	0.10539	.	.	-2.719000	0.00205	0.004000	0.16614	0.000000	0.08366	0.000000	0.00833	0.2528:0.2473:0.2524:0.2474	0.132	0.00069	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	11182.66	622	chrX	141905984	.	C	G	11182.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.53;DP=5419;ExcessHet=0.0000;FS=2.690;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=59.70;MQRankSum=-8.200e-02;QD=20.63;ReadPosRankSum=1.52;SOR=0.646	GT:AD:DP:GQ:PL	0/0:224,0:224:99:0,120,1800	19	1	1	0
chrX	141906016	141906225	CTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCC	-	exonic	MAGEC1	.	nonframeshift deletion	MAGEC1:NM_005462:exon4:c.612_821del:p.L211_L280del,	.	.	426	1084	8	4	0	16	0.00732601	.	.	2824124	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0086	0.0020	0.0083	0.0005	0.0035	0.0128	0.0129	0.0010	.	.	.	.	0.0046	0.0051	0.0048	0.0044	0.0049	0.0045	0.0045	0.0048	0.0047	0.0008	0.0036	0.0232	7.239e-05	0.0014	0.0046	0.0049	0.0048	0.0008	0.0058	0.0065	0.0079	0.0008	0.0087	0.0054	0.0052	0.0080	0.0078	0.0009	0	0.0049	0.0281	0.0003	0.0019	0.0161	0.0087	0.0055	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3658.05	851	chrX	141906015	.	GCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCC	G	3658.05	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.877;DP=5679;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=58.29;MQRankSum=-3.530e-01;QD=30.74;ReadPosRankSum=-1.614e+00;SOR=0.251	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:224,0:224:99:.:.:0,120,1800	20	1	0	0
chrX	141906066	141906066	C	0	exonic	MAGEC1	.	.	.	.	.	608	414	468	12	20	512	0.372727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	7278.24	807	chrX	141906066	.	C	G,*	7278.24	.	AC=2,2;AF=0.200,0.200;AN=10;DP=5799;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3269;MLEAC=5,5;MLEAF=0.500,0.500;MQ=57.13;QD=24.51;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:234,0,0:234:0:.:.:0,0,0,0,0,0	3	1	0	16
chrX	141906073	141906073	T	0	exonic	MAGEC1	.	.	.	.	.	607	414	470	11	20	512	0.372727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	7011.24	724	chrX	141906073	.	T	A,*	7011.24	.	AC=2,2;AF=0.200,0.200;AN=10;DP=5526;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3269;MLEAC=5,5;MLEAF=0.500,0.500;MQ=56.96;QD=24.34;SOR=0.787	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:217,0,0:217:0:.:.:0,0,0,0,0,0	3	1	0	16
chrX	141906078	141906078	T	0	exonic	MAGEC1	.	.	.	.	.	603	425	463	11	20	505	0.363296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	6827.24	689	chrX	141906078	.	T	C,*	6827.24	.	AC=2,2;AF=0.200,0.200;AN=10;DP=5352;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3269;MLEAC=5,5;MLEAF=0.500,0.500;MQ=56.86;QD=24.12;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:198,0,0:198:0:.:.:0,0,0,0,0,0	3	1	0	16
chrX	141906091	141906091	C	0	exonic	MAGEC1	.	.	.	.	.	597	448	440	15	22	492	0.34407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	5797.24	597	chrX	141906091	.	C	A,*	5797.24	.	AC=2,2;AF=0.200,0.200;AN=10;DP=4869;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3269;MLEAC=5,5;MLEAF=0.500,0.500;MQ=56.29;QD=22.30;SOR=0.701	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:172,0,0:172:0:.:.:0,0,0,0,0,0	3	1	0	16
chrX	141906119	141906119	C	0	exonic	MAGEC1	.	.	.	.	.	23	89	91	5	18	119	0.362007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4222.24	400	chrX	141906119	.	C	T,*	4222.24	.	AC=2,2;AF=0.200,0.200;AN=10;DP=3922;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3269;MLEAC=5,5;MLEAF=0.500,0.500;MQ=54.80;QD=18.77;SOR=0.747	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:148,0,0:148:0:.:.:0,0,0,0,0,0	3	1	0	16
chrX	141906126	141906126	C	0	exonic	MAGEC1	.	.	.	.	.	64	97	38	6	21	71	0.204918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	2402.77	337	chrX	141906126	.	C	T,*	2402.77	.	AC=1,2;AF=0.063,0.125;AN=16;BaseQRankSum=0.927;DP=4269;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3856;MLEAC=2,4;MLEAF=0.125,0.250;MQ=59.98;MQRankSum=-1.046e+00;QD=7.19;ReadPosRankSum=0.805;SOR=0.710	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:115,0,0:115:0:.:.:0,0,0,0,0,0	6	0	1	13
chrX	141906127	141906127	C	0	exonic	MAGEC1	.	.	.	.	.	681	410	377	17	37	448	0.333875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	3683.54	337	chrX	141906127	.	C	G,*	3683.54	.	AC=2,2;AF=0.200,0.200;AN=10;DP=4204;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3959;MLEAC=5,5;MLEAF=0.500,0.500;MQ=54.56;QD=17.29;SOR=0.790	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:115,0,0:115:0:.:.:0,0,0,0,0,0	3	1	0	16
chrX	141906159	141906159	T	0	exonic	MAGEC1	.	.	.	.	.	722	481	189	69	61	388	0.253685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	1790.08	154	chrX	141906159	.	T	C,*	1790.08	.	AC=2,2;AF=0.200,0.200;AN=10;DP=3374;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3741;MLEAC=5,5;MLEAF=0.500,0.500;MQ=54.35;QD=9.04;SOR=0.787	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:61,0,0:61:0:.:.:0,0,0,0,0,0	3	1	0	16
chrX	141906161	141906161	T	0	exonic	MAGEC1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	1430.08	142	chrX	141906161	.	T	C,*	1430.08	.	AC=2,2;AF=0.200,0.200;AN=10;DP=3329;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3741;MLEAC=5,5;MLEAF=0.500,0.500;MQ=53.70;QD=7.53;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:62,0,0:62:0:.:.:0,0,0,0,0,0	3	1	0	16
chrX	141906299	141906299	-	CCCAGTCTCCTCTCCAGATTCCTGTGAGCTGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTG	exonic	MAGEC1	.	nonframeshift insertion	MAGEC1:NM_005462:exon4:c.895_896insCCCAGTCTCCTCTCCAGATTCCTGTGAGCTGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTG:p.S308_S309insCSFSSTLLSIFQSSPERTQSTFEGFAQSPLQIPVS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.339e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1249.62	210	chrX	141906299	.	C	CCCCAGTCTCCTCTCCAGATTCCTGTGAGCTGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTG,*	1249.62	.	AC=1,2;AF=0.033,0.067;AN=30;DP=3370;ExcessHet=0.0000;FS=6.080;InbreedingCoeff=0.4852;MLEAC=1,3;MLEAF=0.033,0.100;MQ=57.92;MQRankSum=-5.392e+00;QD=4.18;ReadPosRankSum=-1.121e+01;SOR=1.004	GT:AD:DP:GQ:PL	0/0:115,0,0:115:99:0,120,1800,120,1800,1800	13	0	1	6
chrX	141906299	141906299	C	0	exonic	MAGEC1	.	.	.	.	.	489	914	50	25	44	144	0.0518672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1249.62	210	chrX	141906299	.	C	CCCCAGTCTCCTCTCCAGATTCCTGTGAGCTGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTG,*	1249.62	.	AC=1,2;AF=0.033,0.067;AN=30;DP=3370;ExcessHet=0.0000;FS=6.080;InbreedingCoeff=0.4852;MLEAC=1,3;MLEAF=0.033,0.100;MQ=57.92;MQRankSum=-5.392e+00;QD=4.18;ReadPosRankSum=-1.121e+01;SOR=1.004	GT:AD:DP:GQ:PL	0/0:115,0,0:115:99:0,120,1800,120,1800,1800	13	0	1	6
chrX	141906310	141906414	TCTCCAGATTCCTGTGAGCTCCTCCTCCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCACAGTACTTTTGAGGGTTTTCCCCAGTCTCT	-	exonic	MAGEC1	.	nonframeshift deletion	MAGEC1:NM_005462:exon4:c.906_1010del:p.V307_P341del,	.	.	433	998	16	7	68	98	0.0148075	.	.	2824132	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	0.0009	0.0013	0.0005	0.0036	0.0028	0.0018	0.0015	.	.	.	.	0.0002	0.0005	0.0002	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	4.076e-05	0.0003	0	0.0001	0.0002	0	0.0002	0.0001	0.0006	0.0003	0.0006	0.0004	0	0.0005	0.0002	0.0001	0.0003	0.0002	0.0001	0	0	0	0	0.0002	0	0.0004	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	737.47	225	chrX	141906309	.	CTCTCCAGATTCCTGTGAGCTCCTCCTCCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCACAGTACTTTTGAGGGTTTTCCCCAGTCTCT	C,*	737.47	.	AC=1,2;AF=0.025,0.050;AN=40;BaseQRankSum=0.632;DP=3521;ExcessHet=0.0000;FS=5.166;InbreedingCoeff=0.6316;MLEAC=1,2;MLEAF=0.025,0.050;MQ=57.72;MQRankSum=-8.562e+00;QD=1.76;ReadPosRankSum=-3.515e+00;SOR=1.045	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:115,0,0:115:99:.:.:0,120,1800,120,1800,1800	18	0	1	1
chrX	141906309	141906414	CTCTCCAGATTCCTGTGAGCTCCTCCTCCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCACAGTACTTTTGAGGGTTTTCCCCAGTCTCT	0	exonic	MAGEC1	.	.	.	.	.	433	998	16	7	68	98	0.0148075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	737.47	225	chrX	141906309	.	CTCTCCAGATTCCTGTGAGCTCCTCCTCCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCACAGTACTTTTGAGGGTTTTCCCCAGTCTCT	C,*	737.47	.	AC=1,2;AF=0.025,0.050;AN=40;BaseQRankSum=0.632;DP=3521;ExcessHet=0.0000;FS=5.166;InbreedingCoeff=0.6316;MLEAC=1,2;MLEAF=0.025,0.050;MQ=57.72;MQRankSum=-8.562e+00;QD=1.76;ReadPosRankSum=-3.515e+00;SOR=1.045	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:115,0,0:115:99:.:.:0,120,1800,120,1800,1800	18	0	1	1
chrX	141906385	141906385	C	0	exonic	MAGEC1	.	.	.	.	.	532	287	199	469	35	1172	0.664524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7105	95143.29	325	chrX	141906385	.	C	G,*	95143.29	.	AC=25,3;AF=0.658,0.079;AN=38;BaseQRankSum=1.37;DP=4666;ExcessHet=0.0001;FS=0.000;InbreedingCoeff=0.6889;MLEAC=27,3;MLEAF=0.711,0.079;MQ=57.01;MQRankSum=-5.940e-01;QD=25.67;ReadPosRankSum=0.391;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:174,0,0:174:0:.:.:0,0,0,0,0,0	4	11	2	2
chrX	143628736	143628736	C	G	exonic	SLITRK4	.	nonsynonymous SNV	SLITRK4:NM_001184749:exon2:c.G2373C:p.K791N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.457	P	0.177	B	0.000	U	1.000	D	1.355	L	0.52	T	-0.898	T	0.147	T	0.487	2.025	12.73	5.39	2.234	2.016	16.602	0.111	0.397435481738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.107e-07	9.105e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	2.17e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.40573	D	0.083	0.41405	T	0.457	0.36287	P	0.177	0.35687	B	0.000000	0.84330	U	0.000000	0.999983	0.54805	D	0.895	0.22405	L	0.52	0.55266	T	-1.54	0.37375	N	0.571	0.59393	-0.8979	0.48205	T	0.147	0.47273	T	10	0.50593966	0.61818	D	0.397435	0.93323	D	0.111	0.31313	0.322	0.30226	0.420544483464	0.41669	0.4237341382815121	0.42290	.	.	0.712317109108	0.68930	T	0.064523	0.32457	T	-0.112877	0.34293	T	-0.399916	0.33395	T	0.720364272594452	0.41718	D	0.849315	0.53201	T	0.6638654	0.76105	0.49604106	0.70857	0.6638654	0.76106	0.49604106	0.70857	-4.008	0.23923	T	.	.	0.806	0.77998	P	.;.;.	.;.;.	2.148533	0.27367	17.44	0.99605941636052009	0.74516	0.92437	0.55710	D	AEFBI	.	.	.	.	.	.	.	.	.	0.997243156327411	0.35414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.39	5.39	0.77615	3.246000	0.51115	4.046000	0.41467	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	16.602	0.84672	987	0.02648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2742.08	35	chrX	143628736	.	C	G	2742.08	.	AC=2;AF=0.048;AN=42;DP=785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.26;SOR=0.922	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,111,1665	20	1	0	0
chrX	148962804	148962804	G	A	exonic	AFF2	.	nonsynonymous SNV	AFF2:NM_001170628:exon10:c.G1703A:p.R568H	Mental retardation, X-linked, FRAXE type, X-linked recessive	.	7	1488	19	8	0	35	0.011624	.	.	191365	not_specified|FRAXE|not_provided|AFF2-related_disorder	MedGen:CN169374|MONDO:MONDO:0010659,MedGen:C0751157,OMIM:309548,Orphanet:100973|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.002	N	1.000	D	2.015	M	-0.1	T	-0.183	T	0.434	T	0.838	4.786	26.9	5.87	2.618	3.552	18.241	0.290	0.788945586857	0.0006	0.000794702	0.0015	0.0001	0.0007	0	0	0.0015	0.0080	0.0051	0.0013777	213	154602	rs140927355	0.0010	0.0010	0.0009	0.0013	0.0054	0.0010	0.0010	0.0049	0.0047	0.0004	0.0006	0.0171	3.313e-05	0	0.0022	0.0004	0.0018	0.0054	0.0008	0.0008	0.0008	0.0008	0.0034	0.0007	0.0006	0.0018	0.0013	3.244e-05	0	0.0003	0.0170	0	0	0	0.0006	0.0013	0.0034	0.003	0.72154	D	0.228	0.35840	T	1.0	0.90584	D	0.999	0.92359	D	0.001805	0.37945	N	0.251509	0.999985	0.54805	D	2.14	0.59869	M	-0.1	0.64264	T	0.13	0.05503	N	0.059	0.31925	-0.1835	0.78092	T	0.434	0.77452	T	10	0.0070457757	0.00160	T	0.788946	0.98342	D	0.290	0.60924	.	.	0.931681299323	0.93097	0.3173714879489815	0.31650	0.646509102496	0.58061	0.417903870344	0.27549	T	0.406954	0.76270	T	-0.0729265	0.40859	T	0.123148	0.78444	D	0.0418868720804479	0.04033	T	0.868913	0.57225	D	0.18802847	0.40283	0.18903407	0.42227	0.15770656	0.35520	0.20170383	0.44162	-3.437	0.18466	T	.	.	0.115	0.32565	B	.;.;.;.	.;.;.;.	3.581396	0.50496	23.0	0.99937657744518793	0.99661	0.93683	0.58894	D	AEFGI	.	.	.	.	.	.	.	.	.	0.99999999828898	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.87	5.87	0.94266	3.614000	0.53901	4.259000	0.42796	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	18.241	0.89904	877	0.30165	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1284.98	33	chrX	148962804	.	G	A	1284.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.341;DP=826;ExcessHet=0.0000;FS=5.360;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.59;ReadPosRankSum=-3.440e-01;SOR=1.161	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1321	20	0	1	0
chrX	149715766	149715766	A	C	exonic	MAGEA11	.	nonsynonymous SNV	MAGEA11:NM_001011544:exon5:c.A193C:p.I65L	.	.	430	1075	11	6	0	23	0.0105844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.321	B	0.06	B	.	.	1.000	N	0.55	N	4.53	T	-0.901	T	0.006	T	0.239	0.710	7.784	0.88	0.587	0.477	.	0.018	.	0.0014	0.000264901	0.0020	0.0004	0.0032	0	0	0.0020	0.0101	0.0041	0.0018952	293	154602	rs147749342	0.0022	0.0022	0.0021	0.0022	0.0106	0.0021	0.0021	0.0081	0.0072	0.0003	0.0026	0.0033	0	2.49e-05	0.0106	0.0021	0.0025	0.0047	0.0015	0.0016	0.0017	0.0012	0.0034	0.0014	0.0013	0.0021	0.0020	0.0002	0	0.0016	0.0011	0	0.0002	0.0046	0.0025	0.0026	0.0034	0.013	0.53900	D	0.381	0.38305	T	0.321	0.33029	B	0.06	0.26717	B	.	.	.	.	1	0.08975	N	0	0.06538	N	4.18	0.02743	T	-0.43	0.15379	N	0.047	0.05670	-0.9015	0.47835	T	0.006	0.02055	T	8	0.0061427653	0.00138	T	.	.	.	0.018	0.03083	.	.	0.082315109003	0.07666	0.07611475215732207	0.07547	0.260128891351	0.28580	0.457748889923	0.33001	T	0.013082	0.11383	T	-0.755777	0.00016	T	-0.859554	0.00848	T	0.00487596827098097	0.00052	T	0.443756	0.12347	T	0.16413273	0.36600	0.12596667	0.30345	0.16413273	0.36600	0.12596667	0.30344	-2.203	0.04055	T	.	.	0.152	0.35372	B	.;.;.	.;.;.	0.487042	0.08561	5.329	0.87150379569825132	0.17024	0.03665	0.08926	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.364461467694814	0.19809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	0.88	0.18296	-0.670000	0.05357	.	.	0.561000	0.28422	0.000000	0.06391	0.000000	0.08366	0.127000	0.19450	.	.	.	681	0.59854	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2507.98	33	chrX	149715766	.	A	C	2507.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=1074;ExcessHet=0.0000;FS=0.533;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.73;ReadPosRankSum=-1.733e+00;SOR=0.621	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1156	20	0	1	0
chrX	149932557	149932557	C	T	exonic	EOLA2	.	nonsynonymous SNV	EOLA2:NM_001013845:exon5:c.G464A:p.G155E,	.	.	443	1063	11	5	0	21	0.00978109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.022	B	0.012	B	0.498	N	1.000	N	-0.11	N	1.89	T	-0.971	T	0.016	T	0.056	-0.094	3.538	0.89	0.378	0.836	4.158	0.015	.	0.0046	.	0.0072	0.0019	0.0010	0	0.0260	0.0098	0.0142	0.0015	0.0002717	42	154602	rs62612596	0.0090	0.0090	0.0090	0.0089	0.0095	0.0088	0.0088	0.0093	0.0092	0.0012	0.0010	0.0062	0	0.0298	0.0061	0.0095	0.0081	0.0014	0.0065	0.0069	0.0066	0.0063	0.0088	0.0061	0.0060	0.0081	0.0078	0.0012	0.0104	0.0023	0.0042	0	0.0295	0.0143	0.0088	0.0035	0.0004	0.218	0.19090	T	0.355	0.17217	T	0.022	0.18677	B	0.012	0.16012	B	0.497974	0.11982	N	0.751280	1	0.19694	N	-0.075	0.04822	N	1.89	0.23688	T	0.7	0.02163	N	0.031	0.00770	-0.9708	0.37030	T	0.016	0.06664	T	10	0.0025525987	0.00039	T	.	.	.	0.015	0.02232	.	.	0.043077524339	0.03247	0.46391181987993696	0.46310	0.809143592112	0.66660	.	.	.	0.003343	0.02748	T	-0.849213	0.00003	T	-0.990416	0.00158	T	0.00112221236122483	0.00011	T	0.419458	0.11115	T	0.04656405	0.07814	0.097568035	0.23228	0.04656405	0.07814	0.097568035	0.23228	-3.266	0.13302	T	.	.	0.082	0.08948	B	.;.;.	.;.;.	0.825164	0.11966	8.525	0.88900545417983212	0.18347	0.01427	0.04807	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.581531218472406	0.21575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.35	0.89	0.18352	0.177000	0.16615	.	.	0.454000	0.21428	0.006000	0.17386	0.000000	0.08366	0.526000	0.29613	0.0:0.385:0.0:0.615	4.158	0.09735	484	0.77165	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	950.98	37	chrX	149932557	.	C	T	950.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.76;DP=765;ExcessHet=0.0000;FS=13.497;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=45.83;MQRankSum=0.981;QD=12.68;ReadPosRankSum=-6.620e-01;SOR=2.448	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1207	20	0	1	0
chrX	150693541	150693543	CGG	-	exonic	MTMR1	.	nonframeshift deletion	MTMR1:NM_001306144:exon1:c.11_13del:p.A10del	.	.	658	854	10	0	0	10	0.00582072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000529801	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs782326539	0.0004	0.0073	0.0006	5.416e-06	0.0038	0.0004	0.0003	0.0013	0.0008	0.0006	0.0038	0.0007	0.0012	0.0189	0	0.0003	0.0006	0.0005	5.549e-05	0.0001	6.629e-05	3.059e-05	9.549e-05	2.391e-05	1.607e-05	.	.	3.279e-05	0	9.549e-05	0	0	0.0006	0	1.945e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	49.02	15	chrX	150693540	.	CCGG	C	49.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.00;DP=288;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0295;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.45;ReadPosRankSum=0.00;SOR=0.495	GT:AD:DP:GQ:PL	0/0:8,0:8:24:0,24,216	20	0	1	0
chrX	150776289	150776289	C	A	exonic	CD99L2	.	nonsynonymous SNV	CD99L2:NM_001184808:exon6:c.G321T:p.M107I	.	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	B	0.008	B	0.187	N	1.000	N	0.92	L	2.06	T	-1.004	T	0.029	T	0.073	0.984	9.016	0.568	0.055	0.149	5.072	0.012	0.00656464594489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.165e-07	9.105e-07	1.363e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	0.18626	T	0.125	0.36101	T	0.006	0.13644	B	0.008	0.13708	B	0.186738	0.16956	N	0.615171	1	0.08975	N	1.975	0.53506	M	2.06	0.20523	T	-0.92	0.26639	N	0.085	0.07949	-1.0042	0.28696	T	0.029	0.12365	T	9	0.0655331	0.08856	T	0.006565	0.17301	T	0.012	0.01476	0.177	0.08379	0.44153150616	0.43777	0.09619622545309664	0.09551	0.153515686927	0.17316	0.304084420204	0.11013	T	0.021182	0.16539	T	-0.502822	0.00551	T	-0.960045	0.00232	T	0.0864372700452805	0.10789	T	0.431557	0.16283	T	0.10293985	0.24327	0.10690304	0.25727	0.10293985	0.24327	0.10690304	0.25726	-6.624	0.53676	T	.	.	0.186	0.45273	B	.;.;.;.;.	.;.;.;.;.	0.817247	0.11882	8.449	0.61413628639531503	0.06703	0.13155	0.17695	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.930385913178787	0.27006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.75	0.568	0.16518	0.133000	0.15736	0.470000	0.18703	-0.202000	0.08738	0.000000	0.06391	0.014000	0.20376	0.083000	0.17415	0.1368:0.523:0.0:0.3401	5.072	0.13948	877	0.30165	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	762.98	56	chrX	150776289	.	C	A	762.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.55;DP=739;ExcessHet=0.0000;FS=2.296;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.62;ReadPosRankSum=0.673;SOR=1.059	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1026	20	0	1	0
chrX	150816021	150816021	G	A	exonic	CD99L2	.	nonsynonymous SNV	CD99L2:NM_001184808:exon3:c.C188T:p.P63L	.	.	.	.	.	.	.	.	.	.	.	3299926	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	1.0	D	0.999	D	.	.	1.000	N	2.31	M	2.02	T	-1.058	T	0.110	T	0.226	0.626	7.365	1.5	0.426	1.722	4.673	0.067	0.00334600177219	.	.	0.0002	0	0.0001	0.0003	0	0	0.0016	0.0012	0.0001811	28	154602	rs782821150	9.563e-05	9.561e-05	6.67e-05	0.0002	0.0014	8.05e-05	7.525e-05	0.0012	0.0011	3.789e-05	5.682e-05	0	9.933e-05	0	0	1.9e-05	0.0001	0.0014	5.384e-05	6.965e-05	3.856e-05	8.918e-05	0.0011	2.332e-05	1.568e-05	0.0003	0.0002	3.267e-05	0	9.549e-05	0	0	0	0	1.883e-05	0	0.0011	0.085	0.49613	T	0.069	0.52060	T	0.027	0.19556	B	0.003	0.08700	B	.	.	.	.	0.999868	0.20372	N	2.765	0.80766	M	2.02	0.21119	T	-4.36	0.86527	D	0.168	0.22614	-1.0579	0.12286	T	0.110	0.39675	T	8	0.04211721	0.02930	T	0.003346	0.07451	T	0.067	0.19503	0.282	0.23801	0.270889551736	0.26708	0.4466486163291473	0.44582	0.073922003083	0.08283	0.428359508514	0.28985	T	0.18158	0.53330	T	-0.597517	0.00151	T	-0.671602	0.07506	T	0.197161157014037	0.20258	T	0.716728	0.34774	T	0.10189166	0.24072	0.18126416	0.40979	0.10189166	0.24072	0.18126416	0.40978	-9.303	0.70498	D	.	.	0.097	0.20469	B	.;.;.	.;.;.	2.484289	0.32044	18.92	0.78077085006333591	0.12146	0.24325	0.22358	N	AEFBHCI	.	.	.	.	.	.	.	.	.	0.792742952373553	0.24043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.37	1.5	0.22029	2.191000	0.42272	5.943000	0.51513	-0.818000	0.02990	0.982000	0.35529	1.000000	0.68203	0.037000	0.13953	0.1942:0.0:0.8058:0.0	4.673	0.12084	924	0.18029	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	697.98	36	chrX	150816021	.	G	A	697.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=787;ExcessHet=0.0000;FS=0.901;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.18;ReadPosRankSum=-1.818e+00;SOR=0.916	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1103	20	0	1	0
chrX	151397323	151397323	T	G	exonic	VMA21	.	nonsynonymous SNV	VMA21:NM_001017980:exon1:c.T15G:p.D5E,	Myopathy, X-linked, with excessive autophagy, X-linked recessive	.	1	1512	6	3	0	12	0.00395257	.	.	379026	not_specified|VMA21-related_disorder|Inborn_genetic_diseases|not_provided|X-linked_myopathy_with_excessive_autophagy	MedGen:CN169374|.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0010684,MedGen:C1839615,OMIM:310440,Orphanet:25980	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.23	T	0.001	B	0.002	B	.	.	1.000	N	0.345	N	.	.	-1.035	T	0.051	T	0.142	1.944	12.46	-0.915	-0.107	0.528	5.110	0.029	0.0521174705859	.	.	0.0009	0	0	0	.	0.0004	0	0.0013	9.06e-05	14	154602	rs765120199	0.0004	0.0004	0.0004	0.0005	0.0020	0.0004	0.0004	0.0017	0.0015	4.017e-05	0.0005	0	3.687e-05	0	0.0013	0.0004	0.0007	0.0020	0.0004	0.0003	0.0004	0.0002	0.0014	0.0003	0.0002	0.0005	0.0003	3.2e-05	0	0.0008	0	0.0006	0	0	0.0004	0.0007	0.0014	0.278	0.15613	T	0.475	0.12072	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.81001	D	0.55	0.14455	N	.	.	.	-0.52	0.16187	N	0.058	0.02964	-1.0349	0.18888	T	0.051	0.21806	T	8	0.016320378	0.00344	T	0.052117	0.64939	D	0.029	0.06676	0.257	0.19845	0.0675242888579	0.06100	.	.	0.727047607057	0.62546	0.741258740425	0.73158	T	0.002723	0.02115	T	-0.556968	0.00265	T	-0.59745	0.13026	T	0.0155201040789276	0.00352	T	0.559344	0.19537	T	0.059385717	0.12062	0.07430366	0.16240	0.05172803	0.09542	0.07998654	0.18053	-2.842	0.08576	T	.	.	0.070	0.03552	B	.	.	1.860680	0.23633	16.09	0.94523969207673675	0.25016	0.69658	0.34275	D	ALL	.	.	.	.	.	.	.	.	.	0.999999999964297	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.17	-0.915	0.09960	0.262000	0.18229	0.238000	0.16272	-0.120000	0.14102	1.000000	0.71638	0.995000	0.32472	0.200000	0.21896	0.0:0.3473:0.1696:0.4831	5.110	0.14136	728	0.54609	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.02381	1031.98	33	chrX	151397323	.	T	G	1031.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.600e-02;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=-1.570e-01;SOR=0.659	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,927	20	0	1	0
chrX	151739696	151739696	G	T	exonic	CNGA2	.	nonsynonymous SNV	CNGA2:NM_005140:exon4:c.G338T:p.G113V,	.	.	429	1069	18	6	0	30	0.0138376	.	.	743181	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.43	T	0.013	B	0.015	B	0.022	N	1.000	D	0.97	L	-4.34	D	-0.175	T	0.659	D	0.101	1.179	9.795	2.75	0.138	0.882	2.259	0.193	0.0466069080944	0.0054	0.00344371	0.0060	0.0011	0.0035	0	0.0009	0.0083	0.0064	0.0077	0.0059572	921	154602	rs144366408	0.0066	0.0066	0.0065	0.0068	0.0169	0.0065	0.0064	0.0138	0.0126	0.0008	0.0033	0.0158	3.311e-05	0.0019	0.0169	0.0070	0.0072	0.0076	0.0050	0.0050	0.0052	0.0046	0.0080	0.0047	0.0045	0.0073	0.0071	0.0010	0.0044	0.0026	0.0155	0	0.0008	0.0140	0.0080	0.0106	0.0042	0.414	0.10020	T	0.316	0.19362	T	0.013	0.16609	B	0.015	0.17295	B	0.021695	0.26783	N	0.401066	0.999997	0.58761	D	1.5	0.37844	L	-4.34	0.97267	D	-0.31	0.12099	N	0.125	0.11769	-0.1750	0.78305	T	0.659	0.88141	D	10	0.0054856837	0.00121	T	0.046607	0.62536	D	0.193	0.47281	.	.	0.839038645063	0.83750	0.56561791884801	0.56488	0.0802067649774	0.09027	0.346496105194	0.17404	T	0.101624	0.40855	T	-0.39713	0.02417	T	-0.33852	0.40512	T	0.0100142106092321	0.00134	T	0.692631	0.30204	T	0.06027341	0.12350	0.060847368	0.11654	0.06027341	0.12350	0.060847368	0.11653	-4.882	0.35532	T	.	.	0.076	0.05979	B	.	.	1.296129	0.16976	12.88	0.95539897949477193	0.27185	0.86342	0.45603	D	AEFDGBI	.	.	.	.	.	.	.	.	.	0.0675586635227689	0.15430	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.58	2.75	0.31439	0.245000	0.17917	2.952000	0.35717	-0.785000	0.03297	0.851000	0.30461	1.000000	0.68203	0.862000	0.40904	0.1718:0.1496:0.5206:0.1579	2.259	0.03814	758	0.50837	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2046.08	33	chrX	151739696	.	G	T	2046.08	.	AC=2;AF=0.048;AN=42;DP=752;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.54;SOR=1.230	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	20	1	0	0
chrX	151743683	151743683	C	T	exonic	CNGA2	.	nonsynonymous SNV	CNGA2:NM_005140:exon7:c.C1180T:p.H394Y,	.	.	.	.	.	.	.	.	.	.	.	3429539	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.997	D	0.986	D	0.000	D	0.996	D	1.87	L	-4.07	D	1.041	D	0.913	D	0.634	2.964	15.88	4.96	2.183	7.445	14.865	0.667	0.187654065958	0.0002	.	0.0002	0	0	0	0	0.0004	0	0.0002	0.0001811	28	154602	rs200521778	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	0	5.681e-05	0	0	0	0.0002	0.0002	0.0001	0.0003	6.27e-05	6.092e-05	5.14e-05	8.868e-05	0.0004	2.901e-05	2.071e-05	4.841e-05	3.351e-05	0	0	0	0	0	0	0	0.0001	0	0.0004	0.004	0.65419	D	0.004	0.74150	D	0.997	0.70673	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	0.996441	0.43208	D	1.445	0.36358	L	-4.07	0.96562	D	-2.45	0.53577	N	0.235	0.26475	1.041	0.97925	D	0.913	0.97130	D	10	0.48001093	0.60374	T	0.187654	0.85952	D	0.667	0.87625	.	.	0.799962852074	0.79809	0.8676456651138357	0.86729	0.426352930789	0.43014	0.836189746857	0.87513	D	0.438415	0.78408	T	0.0796878	0.62005	D	0.208754	0.83599	D	0.144749343395233	0.16678	T	0.960254	0.85028	D	0.6571252	0.75745	0.63970804	0.78954	0.6571252	0.75746	0.63970804	0.78955	-8.458	0.64151	D	.	.	0.184	0.39832	B	.	.	4.346217	0.66720	25.0	0.99696143090792833	0.80316	0.96157	0.67794	D	AEFBI	.	.	.	.	.	.	.	.	.	0.995152058102218	0.33979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.96	4.96	0.65153	7.568000	0.81546	7.725000	0.67498	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	14.865	0.70043	758	0.50837	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2366.98	40	chrX	151743683	.	C	T	2366.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.147e+00;DP=870;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=1.08;SOR=0.667	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1072	20	0	1	0
chrX	151970305	151970305	C	T	exonic	GABRE	.	nonsynonymous SNV	GABRE:NM_004961:exon2:c.G154A:p.E52K,	.	.	428	1085	6	3	0	12	0.00549954	.	.	1196325	not_provided	MedGen:C3661900	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.12	T	0.02	B	0.007	B	.	.	0.998	N	0	N	-0.62	T	-0.937	T	0.151	T	0.174	1.814	12.03	3.23	1.053	-0.070	6.232	0.112	.	0.0047	0.0018543	0.0050	0	0.0025	0	0.0073	0.0073	0.0111	0.0028	0.0048382	748	154602	rs61730040	0.0054	0.0054	0.0054	0.0056	0.0090	0.0053	0.0053	0.0067	0.0059	0.0004	0.0019	0.0322	3.311e-05	0.0073	0.0090	0.0053	0.0069	0.0033	0.0049	0.0049	0.0051	0.0045	0.0063	0.0046	0.0044	0.0058	0.0055	0.0005	0	0.0022	0.0418	0	0.0074	0.0276	0.0063	0.0032	0.0019	0.256	0.16793	T	0.643	0.06903	T	0.02	0.18235	B	0.007	0.12992	B	.	.	.	.	1	0.22281	N	1.04	0.26193	L	-1.21	0.78645	T	-0.7	0.19933	N	0.048	0.01999	-0.9370	0.43088	T	0.151	0.47839	T	9	0.0033326745	0.00058	T	.	.	.	0.112	0.31546	.	.	0.702567724967	0.69998	0.4777811933003477	0.47698	0.0722118385532	0.08101	0.304640293121	0.11097	T	0.02469	0.18606	T	-0.549182	0.00295	T	-0.559026	0.16469	T	0.0155750220559097	0.00355	T	0.59614	0.22137	T	0.06493614	0.13827	0.08006154	0.18078	0.047570813	0.08151	0.08006154	0.18078	-3.681	0.19038	T	.	.	0.059	0.00847	B	.	.	0.341114	0.07149	3.728	0.97890270438870031	0.36669	0.06548	0.12561	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999995613408461	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.11	3.23	0.36150	-0.044000	0.11977	0.051000	0.14001	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.8602:0.0:0.1398	6.232	0.19951	799	0.44747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	840.98	34	chrX	151970305	.	C	T	840.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=804;ExcessHet=0.0000;FS=1.716;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.67;ReadPosRankSum=-1.017e+00;SOR=0.488	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1196	20	0	1	0
chrX	151970346	151970346	T	C	exonic	GABRE	.	nonsynonymous SNV	GABRE:NM_004961:exon2:c.A113G:p.Y38C,	.	.	417	1096	6	3	0	12	0.00544465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.992	D	0.667	P	.	.	1.000	N	0	N	-0.66	T	-0.844	T	0.205	T	0.413	2.440	14.12	2.9	0.678	0.377	5.770	0.247	.	0.0047	0.0018543	0.0051	0	0.0025	0	0.0073	0.0073	0.0111	0.0028	0.0048576	751	154602	rs61730039	0.0055	0.0055	0.0054	0.0056	0.0094	0.0054	0.0053	0.0070	0.0061	0.0004	0.0019	0.0322	3.311e-05	0.0073	0.0094	0.0053	0.0069	0.0033	0.0049	0.0049	0.0051	0.0044	0.0063	0.0045	0.0044	0.0058	0.0055	0.0005	0	0.0022	0.0414	0	0.0073	0.0275	0.0063	0.0033	0.0023	0.004	0.65419	D	0.02	0.58613	D	0.992	0.64738	D	0.667	0.53020	P	.	.	.	.	1	0.08975	N	1.2	0.30300	L	-1.25	0.79072	T	-1.2	0.30555	N	0.148	0.15046	-0.8440	0.52379	T	0.205	0.56293	T	9	0.0052545965	0.00115	T	.	.	.	0.247	0.55478	.	.	0.858546123532	0.85718	0.4204683374585385	0.41962	0.132204958427	0.14900	0.325509607792	0.14254	T	0.037596	0.24533	T	-0.389261	0.02720	T	-0.329033	0.41576	T	0.0117111600402332	0.00180	T	0.643236	0.25495	T	0.12716183	0.29764	0.15440227	0.36240	0.15120377	0.34384	0.15440227	0.36239	-4.245	0.27398	T	.	.	0.12	0.24767	B	.	.	1.942253	0.24671	16.48	0.99128134390396627	0.53169	0.13529	0.17908	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999982984425167	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.11	2.9	0.32809	0.639000	0.24378	1.981000	0.30034	0.663000	0.56723	0.004000	0.16614	0.978000	0.30204	0.039000	0.14166	0.2498:0.0:0.0:0.7502	5.770	0.17515	799	0.44747	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	780.98	34	chrX	151970346	.	T	C	780.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.112e+00;DP=796;ExcessHet=0.0000;FS=4.087;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.87;ReadPosRankSum=-1.430e-01;SOR=0.375	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1196	20	0	1	0
chrX	152135131	152135131	C	T	exonic	MAGEA10	.	nonsynonymous SNV	MAGEA10:NM_021048:exon4:c.G490A:p.V164I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.35	B	0.701	P	0.000	N	1.000	N	0.555	N	3.43	T	-0.953	T	0.016	T	0.173	0.301	5.629	-5.37	-2.036	-2.566	3.550	0.136	0.00402543603339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.68238	T	0.132	0.34477	T	0.35	0.33644	B	0.701	0.54186	P	0.000016	0.62929	N	0.066765	1	0.08975	N	1.305	0.32671	L	3.43	0.05440	T	-0.83	0.22944	N	0.044	0.01658	-0.9529	0.40468	T	0.016	0.06329	T	10	0.19077903	0.34735	T	0.004025	0.09556	T	0.136	0.36778	0.65	0.78753	0.124217242631	0.12060	0.3635362644906743	0.36267	0.209291043969	0.23399	0.449119746685	0.31823	T	0.034526	0.34085	T	-0.449747	0.01133	T	-0.883807	0.00623	T	0.430160850286484	0.30066	T	0.732927	0.36808	T	0.11682613	0.27549	0.08340559	0.19109	0.11682613	0.27549	0.08340559	0.19109	-5.523	0.42082	T	.	.	0.095	0.14842	B	.;.;.	.;.;.	-0.541142	0.01739	0.130	0.79641795350957512	0.12834	0.00844	0.03380	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.999388940130356	0.39415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.68	-5.37	0.02472	-2.853000	0.00799	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.2919:0.2283:0.0:0.4799	3.550	0.07398	778	0.48011	MAGE homology domain|MAGE homology domain|MAGE homology domain;MAGE homology domain|MAGE homology domain|MAGE homology domain;MAGE homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2416.98	42	chrX	152135131	.	C	T	2416.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.834;DP=987;ExcessHet=0.0000;FS=1.684;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.45;ReadPosRankSum=-6.780e-01;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,102,1261	20	0	1	0
chrX	152766771	152766771	T	C	exonic	MAGEA6	.	nonsynonymous SNV	MAGEA6:NM_005363:exon3:c.A880G:p.S294G	.	.	437	1054	22	9	0	40	0.018622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.0	B	0.0	B	0.084	N	1.000	N	1.79	L	4.68	T	-0.911	T	0.008	T	0.157	0.247	5.337	-0.021	-0.041	0.314	3.881	0.020	0.000939796218196	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs149795670	0.0002	0.0002	0.0001	0.0002	0.0094	0.0001	0.0001	0.0071	0.0063	0	5.684e-05	0.0004	0	0	0.0094	6.656e-05	0.0006	0.0009	0.0001	0.0001	0.0001	0.0001	0.0008	6.876e-05	5.385e-05	0.0001	6.549e-05	3.252e-05	0	0	0.0004	0	0	0	0.0002	0	0.0008	0.154	0.24277	T	0.09	0.40267	T	.	.	.	.	.	.	0.084434	0.02389	N	1.866700	1	0.08975	N	.	.	.	4.68	0.01715	T	-1.92	0.44657	N	0.091	0.06990	-0.9114	0.46682	T	0.008	0.02884	T	10	0.099959314	0.18175	T	9.4E-4	0.00934	T	.	.	0.363	0.36874	0.530606565545	0.52708	0.2508074439492044	0.24994	.	.	0.471705913544	0.34914	T	0.010616	0.09570	T	-0.425724	0.01574	T	-0.8493	0.00968	T	0.0395750029595417	0.03613	T	0.239776	0.03423	T	0.09530217	0.22426	0.11327622	0.27337	0.09530217	0.22426	0.11327622	0.27336	-5.449	0.41388	T	.	.	0.077	0.06803	B	.;.	.;.	0.302974	0.06786	3.305	0.83511777602203896	0.14766	0.02893	0.07682	N	AEFDCI	.	.	.	.	.	.	.	.	.	1.09901603177333E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.42	-0.0211	0.13278	0.178000	0.16634	.	.	0.233000	0.18164	0.002000	0.15269	0.000000	0.08366	0.095000	0.18041	0.0:0.0:0.3894:0.6106	3.881	0.08584	709	0.56835	MAGE homology domain;MAGE homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3457.98	33	chrX	152766771	.	T	C	3457.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.164e+00;DP=1019;ExcessHet=0.0000;FS=2.570;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.93;MQRankSum=0.987;QD=11.76;ReadPosRankSum=0.609;SOR=0.553	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1248	20	0	1	0
chrX	152969431	152969431	C	T	exonic	ZNF185	.	nonsynonymous SNV	ZNF185:NM_001178115:exon7:c.C832T:p.P278S	.	.	431	1087	3	1	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	0.724	D	1.1	L	-1.97	D	-0.771	T	0.151	T	0.362	3.478	17.80	4.42	2.167	1.782	10.309	0.064	0.0312588711264	0.0011	0.0010596	0.0007	0.0038	0.0007	0	0	0.0003	0.0025	0.0009	0.0004916	76	154602	rs182646834	0.0003	0.0003	0.0003	0.0003	0.0042	0.0003	0.0003	0.0036	0.0034	0.0042	0.0004	0	0	0	0.0010	0.0002	0.0006	0.0008	0.0011	0.0011	0.0012	0.0009	0.0037	0.0010	0.0009	0.0031	0.0029	0.0037	0	0.0002	0	0	0	0	0.0002	0	0.0004	0.008	0.59928	D	0.141	0.92824	T	1.0	0.90584	D	0.996	0.88582	D	0.000268	0.46590	D	0.000000	0.723687	0.33644	D	1.61	0.41143	L	-1.97	0.85173	D	-4.15	0.82341	D	0.478	0.57690	-0.7712	0.56792	T	0.151	0.47944	T	10	0.012247324	0.00264	T	0.031259	0.53383	D	0.409	0.72099	.	.	0.234412748748	0.23057	0.28794117608985964	0.28707	0.347770780837	0.36658	0.475897192955	0.35493	T	0.206263	0.56555	T	-0.301027	0.08563	T	-0.207602	0.53924	T	0.0318236687031579	0.02277	T	0.954605	0.84151	D	0.28954378	0.51950	0.34626123	0.60297	0.28954378	0.51950	0.34626123	0.60296	-11.808	0.83983	D	.	.	0.469	0.74599	A	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.540991	0.49734	22.8	0.9989180020973375	0.96589	0.88708	0.48765	D	AEFBHI	.	.	.	.	.	.	.	.	.	0.0849037946650473	0.15968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.42	4.42	0.52775	2.392000	0.44087	.	.	0.599000	0.40250	0.994000	0.38300	0.996000	0.32793	0.955000	0.50612	0.0:0.803:0.197:0.0	10.309	0.42877	253	0.90069	.;.;.;.;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2628.08	37	chrX	152969431	.	C	T	2628.08	.	AC=2;AF=0.048;AN=42;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.85;SOR=1.031	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	20	1	0	0
chrX	153073262	153073262	T	G	exonic	PNMA6A	.	nonsynonymous SNV	PNMA6A:NM_032882:exon2:c.T200G:p.V67G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	.	.	2.37	T	-1.031	T	0.044	T	0.397	2.490	14.29	1.99	1.077	0.503	5.511	0.025	0.0369201328504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.725e-05	0.0002	5.377e-05	0	8.781e-05	1.997e-05	1.559e-05	2.054e-05	1.391e-05	8.781e-05	8.319e-05	0	0	0	0	4.466e-05	5.765e-05	0	0	3.293e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.33	0.16492	T	-6.52	0.91695	D	0.504	0.53620	-1.0739	0.08577	T	0.085	0.33269	T	8	0.5577507	0.64614	D	0.355273	0.92373	D	0.234	0.53644	0.66	0.79791	0.154104182512	0.14974	0.44074457449472765	0.43991	.	.	0.797610878944	0.81599	T	0.07346	0.34703	T	-0.0376367	0.46298	T	-0.291839	0.45580	T	0.879471444823567	0.52944	D	0.262774	0.04248	T	0.09392669	0.22070	0.15312491	0.35995	0.09392669	0.22070	0.15312491	0.35994	-10.718	0.78089	D	.	.	0.519	0.65421	A	.	.	2.561390	0.33175	19.26	0.9900846234778935	0.50314	0.00385	0.01942	N	AEFI	.	.	.	.	.	.	.	.	.	1.28807437351111E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.14	1.14	0.19817	-0.168000	0.09914	.	.	0.467000	0.21759	0.000000	0.06391	0.041000	0.21590	0.110000	0.18741	0.0:0.0:0.0:1.0	4.200	0.09923	77	0.96778	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1154	49.97	6	chrX	153073262	.	T	G	49.97	.	AC=3;AF=0.115;AN=26;BaseQRankSum=-5.570e-01;DP=168;ExcessHet=0.5115;FS=0.000;InbreedingCoeff=-0.1923;MLEAC=4;MLEAF=0.154;MQ=27.00;MQRankSum=0.00;QD=5.00;ReadPosRankSum=0.00;SOR=0.016	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:6,0:6:18:.:.:0,18,189	10	0	3	8
chrX	153398281	153398281	-	CCTCACCTGCTGCTCCTGCCTCACCTGCGCCTCCTG	exonic	PNMA6E	.	nonframeshift insertion	PNMA6E:NM_001367770:exon2:c.568_569insCAGGAGGCGCAGGTGAGGCAGGAGCAGCAGGTGAGG:p.E189_G190insAGGAGEAGAAGE,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0071	0.0018	0.0059	0.0092	0.0131	0.0066	0.0065	0.0109	0.0101	0.0013	0.0131	0.0105	0	0.0103	0.0108	0.0075	0.0103	0.0011	0.0002	0.0006	0.0003	0	0.0003	0.0001	8.951e-05	0.0001	9.153e-05	8.465e-05	0	0.0003	0	0	0.0007	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1152.72	57	chrX	153398281	.	C	CCCTCACCTGCTGCTCCTGCCTCACCTGCGCCTCCTG,G	1152.72	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=2.88;DP=852;ExcessHet=0.0000;FS=5.303;InbreedingCoeff=0.5838;MLEAC=2,1;MLEAF=0.048,0.024;MQ=57.23;MQRankSum=-2.910e+00;QD=19.21;ReadPosRankSum=-4.194e+00;SOR=0.786	GT:AD:DP:GQ:PL	0/0:50,0,0:50:72:0,72,1239,72,1239,1239	19	1	0	0
chrX	153398281	153398281	C	G	exonic	PNMA6E	.	nonsynonymous SNV	PNMA6E:NM_001367770:exon2:c.G569C:p.G190A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001191	31	26028	rs797035894	0.0041	0.0025	0.0063	0	0.0052	0.0038	0.0036	0.0041	0.0039	0.0045	0.0052	0.0030	0.0031	0.0022	0.0028	0.0046	0.0059	0.0018	0.0021	0.0020	0.0028	0	0.0040	0.0018	0.0017	0.0023	0.0019	0.0017	0	0.0040	0.0031	0.0008	0.0034	0.0217	0.0019	0.0036	0.0039	.	.	.	0.265	0.22694	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.05799	.	.	.	.	.	.	.	0.044147044	0.03340	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001579	0.01021	T	.	.	.	.	.	.	.	.	.	0.972428	0.90037	D	0.026739683	0.01771	0.10099799	0.24165	0.026739683	0.01770	0.10099799	0.24164	2.084	0.00048	T	.	.	0.051	0.00187	B	.	.	-2.068296	0.00087	0.002	0.29728045559910354	0.01591	0.00549	0.02518	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.999655255135498	0.41424	.	.	.	.	.	.	.	.	.	.	.	.	0.046323	0.05263	2.65	-5.3	0.02527	-4.426000	0.00270	.	.	-5.819000	0.00007	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2972:0.5741:0.1287	10.162	0.42031	228	0.91137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1152.72	57	chrX	153398281	.	C	CCCTCACCTGCTGCTCCTGCCTCACCTGCGCCTCCTG,G	1152.72	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=2.88;DP=852;ExcessHet=0.0000;FS=5.303;InbreedingCoeff=0.5838;MLEAC=2,1;MLEAF=0.048,0.024;MQ=57.23;MQRankSum=-2.910e+00;QD=19.21;ReadPosRankSum=-4.194e+00;SOR=0.786	GT:AD:DP:GQ:PL	0/0:50,0,0:50:72:0,72,1239,72,1239,1239	19	1	0	0
chrX	153445355	153445355	C	T	exonic	TREX2	.	nonsynonymous SNV	TREX2:NM_080701:exon2:c.G76A:p.E26K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.986	D	0.555	P	0.037	U	1.000	N	0.2	N	0.96	T	-1.021	T	0.051	T	0.268	-0.384	2.195	3.13	0.902	0.643	4.365	0.101	0.0112890624705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.02489	T	1.0	0.01155	T	0.985	0.61118	D	0.475	0.46927	P	0.036979	0.24457	U	0.268985	1	0.08975	N	0.17	0.09006	N	0.96	0.42888	T	0.65	0.02332	N	0.275	0.31478	-1.0214	0.23259	T	0.051	0.21728	T	10	0.06624699	0.09056	T	0.011289	0.28764	T	0.101	0.28911	0.585	0.71245	0.0551355673512	0.04727	0.4331797872171364	0.43234	0.0642824886983	0.07162	0.510533928871	0.40298	T	0.058354	0.30818	T	-0.360928	0.04077	T	-0.756224	0.03249	T	0.248056441545486	0.22786	T	0.762924	0.38892	T	0.17246482	0.37939	0.10459686	0.25124	0.17246482	0.37938	0.10459686	0.25123	.	.	.	.	.	0.190	0.47859	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.882999	0.12561	9.091	0.958450697743082	0.27976	0.08259	0.14211	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.71165621105691	0.22827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.04	3.13	0.35090	-0.023000	0.12403	.	.	0.596000	0.33519	0.000000	0.06391	0.992000	0.31684	0.026000	0.12556	0.0:0.6079:0.1837:0.2084	4.365	0.10653	209	0.91859	.;.;Exonuclease, RNase T/DNA polymerase III;.;.;Exonuclease, RNase T/DNA polymerase III;Exonuclease, RNase T/DNA polymerase III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1430.98	42	chrX	153445355	.	C	T	1430.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=851;ExcessHet=0.0000;FS=0.647;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.84;ReadPosRankSum=0.502;SOR=0.777	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	20	0	1	0
chrX	153541364	153541364	G	A	exonic	ATP2B3	.	nonsynonymous SNV	ATP2B3:NM_001001344:exon2:c.G214A:p.A72T	.	.	8	1503	9	2	0	13	0.00430606	.	.	537589	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.15	T	0.007	B	0.019	B	0.003	N	0.552	N	-0.495	N	-0.91	T	-0.953	T	0.143	T	0.273	1.181	9.802	3.53	1.077	3.024	6.628	0.148	0.0169352344929	0.0005	0.000264901	0.0004	0	0.0002	0	0	0.0006	0	0.0001	0.000401	62	154602	rs149114271	0.0004	0.0004	0.0004	0.0004	0.0024	0.0004	0.0004	0.0013	0.0010	3.788e-05	0.0006	0	0	0	0.0024	0.0005	0.0005	0.0003	0.0005	0.0005	0.0004	0.0006	0.0021	0.0004	0.0004	0.0014	0.0012	0	0	0.0021	0	0	0	0	0.0006	0	0	0.231	0.25560	T	0.306	0.19972	T	0.004	0.14184	B	0.019	0.18783	B	0.002956	0.35672	N	0.227983	0.881093	0.31323	N	0.275	0.09989	N	-0.91	0.75001	T	-0.48	0.15379	N	0.07	0.10340	-0.9528	0.40485	T	0.143	0.46459	T	10	0.032008976	0.01345	T	0.016935	0.38428	T	0.148	0.39182	.	.	0.814692847585	0.81295	0.4505419769636483	0.44972	0.574172683107	0.53457	0.41684615612	0.27403	T	0.051333	0.28851	T	-0.406383	0.02101	T	-0.450432	0.27649	T	0.0126197297311999	0.00211	T	0.912409	0.68863	D	0.07170543	0.15896	0.11491533	0.27740	0.07170543	0.15895	0.11491533	0.27739	-3.758	0.20178	T	0.0538055453606358	0.01108	0.071	0.04316	B	.;.;.;.;.	.;.;.;.;.	2.229049	0.28453	17.80	0.96099046233502572	0.28706	0.91304	0.53264	D	AEFBI	.	.	.	.	.	.	.	.	.	0.987123580407125	0.31189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.51	3.53	0.39533	1.744000	0.37894	.	.	0.672000	0.70159	0.998000	0.41325	1.000000	0.68203	0.473000	0.28408	0.0:0.1304:0.4465:0.4231	6.628	0.22032	109	0.95526	Cation-transporting P-type ATPase, N-terminal|Cation-transporting P-type ATPase, N-terminal;.;.;.;Cation-transporting P-type ATPase, N-terminal|Cation-transporting P-type ATPase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	916.98	34	chrX	153541364	.	G	A	916.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.165e+00;DP=791;ExcessHet=0.0000;FS=1.907;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=-6.580e-01;SOR=0.457	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1417	20	0	1	0
chrX	153580229	153580229	G	T	exonic	ATP2B3	.	nonsynonymous SNV	ATP2B3:NM_001001344:exon20:c.G3594T:p.K1198N,	.	YES	.	.	.	.	.	.	.	.	.	244001	Abnormal_cerebral_cortex_morphology|Hypotonia|Global_developmental_delay|Oral-pharyngeal_dysphagia|Carious_teeth|Microcephaly|Intellectual_disability|Muscular_atrophy|X-linked_progressive_cerebellar_ataxia	Human_Phenotype_Ontology:HP:0002538,MedGen:C4025701|Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827|Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874|Human_Phenotype_Ontology:HP:0200136,MedGen:C0267071|Human_Phenotype_Ontology:HP:0000670,Human_Phenotype_Ontology:HP:0006295,Human_Phenotype_Ontology:HP:0006306,MONDO:MONDO:0005276,MedGen:C0011334|Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|Human_Phenotype_Ontology:HP:0001299,Human_Phenotype_Ontology:HP:0003202,Human_Phenotype_Ontology:HP:0003545,Human_Phenotype_Ontology:HP:0003671,Human_Phenotype_Ontology:HP:0003702,Human_Phenotype_Ontology:HP:0003746,Human_Phenotype_Ontology:HP:0006995,Human_Phenotype_Ontology:HP:0007171,Human_Phenotype_Ontology:HP:0007356,Human_Phenotype_Ontology:HP:0009010,Human_Phenotype_Ontology:HP:0009048,Human_Phenotype_Ontology:HP:0100868,MONDO:MONDO:0004323,MedGen:C0541794|MONDO:MONDO:0010547,MedGen:C0796205,OMIM:302500,Orphanet:1175	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.144	N	1.000	D	1.1	L	-3.45	D	0.255	D	0.891	D	0.3	4.074	20.9	5.34	2.212	1.348	16.741	0.467	0.418433081814	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782596945	9.229e-07	9.105e-07	1.372e-06	0	3.855e-05	0	0	.	.	3.855e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.033	0.53072	D	0.999	0.77913	D	0.998	0.88582	D	0.144195	0.02910	N	1.669800	0.98271	0.81001	D	-0.695	0.01866	N	-3.45	0.94469	D	-1.09	0.28290	N	0.644	0.65587	0.255	0.86828	D	0.891	0.96388	D	10	0.3843456	0.54428	T	0.418433	0.93743	D	0.467	0.76222	0.197	0.10975	0.939107827343	0.93848	0.6164852695513366	0.61580	1.67296278305	0.89877	0.495664149523	0.38223	T	0.083323	0.37028	T	0.0469897	0.57953	T	-0.170279	0.57417	T	0.845075488090515	0.49746	D	0.777722	0.41106	T	0.27985528	0.51034	0.27440202	0.53367	0.26845282	0.49917	0.24045628	0.49418	-2.548	0.06118	T	.	.	0.206	0.44720	B	.;.	.;.	3.870699	0.56190	23.7	0.9987961283767508	0.95572	0.92775	0.56515	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999995552017283	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.34	5.34	0.75982	1.043000	0.29926	.	.	-0.110000	0.15115	0.990000	0.36992	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.741	0.85319	9	0.99126	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1690.98	42	chrX	153580229	.	G	T	1690.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=956;ExcessHet=0.0000;FS=2.217;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.83;ReadPosRankSum=0.799;SOR=0.941	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	20	0	1	0
chrX	153767884	153767884	G	A	exonic	PLXNB3	.	nonsynonymous SNV	PLXNB3:NM_005393:exon3:c.G1057A:p.V353I	.	.	.	.	.	.	.	.	.	.	.	2354595	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.2	T	0.971	D	0.331	B	0.000	D	1.000	D	2.475	M	2.87	T	-1.041	T	0.042	T	0.154	2.408	14.01	4.9	2.027	5.479	16.008	0.138	0.0162365341208	.	0.000794702	0.0009	0.0014	0	0	0.0019	0	0	0	0.0001229	19	154602	rs782055449	0.0004	0.0004	0.0005	0.0004	0.0008	0.0004	0.0004	0.0005	0.0005	0.0008	0.0002	0	0	0.0002	0	0.0005	0.0002	2.367e-05	0.0003	0.0003	0.0003	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0004	0	0	0	0	0.0002	0	0.0003	0	0.0004	0.051	0.39820	T	0.009	0.66756	D	0.818	0.45651	P	0.3	0.41053	B	0.000180	0.48594	D	0.078296	0.981501	0.81001	D	2.755	0.80505	M	2.87	0.10386	T	-0.68	0.19509	N	0.132	0.12770	-1.0407	0.17101	T	0.042	0.17952	T	10	0.03382954	0.01570	T	0.016237	0.37399	T	0.138	0.37187	0.397	0.42426	0.176091768786	0.17195	0.543701675546551	0.54296	.	.	0.641535997391	0.58783	T	0.021032	0.16449	T	-0.60638	0.00133	T	-0.684332	0.06723	T	0.0531830383324965	0.06051	T	0.816118	0.47137	T	0.15530927	0.35108	0.19285153	0.42823	0.15530927	0.35108	0.19285153	0.42822	-8.266	0.62868	D	.	.	0.122	0.25721	B	.;.	.;.	2.477259	0.31942	18.89	0.99018256215603362	0.50527	0.91255	0.53165	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999999999997611	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.9	4.9	0.63643	5.773000	0.68552	.	.	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.093000	0.17941	0.0:0.0:1.0:0.0	16.008	0.80177	53	0.97589	.;Sema domain|Sema domain|Sema domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1096.98	33	chrX	153767884	.	G	A	1096.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=777;ExcessHet=0.0000;FS=4.028;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.47;ReadPosRankSum=0.964;SOR=1.132	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1081	20	0	1	0
chrX	153775089	153775089	C	T	exonic	PLXNB3	.	nonsynonymous SNV	PLXNB3:NM_005393:exon24:c.C4141T:p.L1381F	.	.	430	1085	3	4	0	11	0.00504356	.	.	2824296	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.45	T	0.999	D	0.993	D	0.000	D	1.000	D	2.39	M	2.24	T	-1.024	T	0.106	T	0.39	2.251	13.48	4.84	1.971	2.554	12.221	0.190	0.0413069770604	.	0.0013245	0.0005	0	0	0	0	5.824e-05	0	0.0053	0.0005175	80	154602	rs782389181	0.0004	0.0004	0.0003	0.0005	0.0033	0.0003	0.0003	0.0029	0.0027	3.812e-05	5.865e-05	0	6.654e-05	0	0.0010	0.0002	0.0004	0.0033	0.0002	0.0002	0.0002	0.0003	0.0039	0.0001	0.0001	0.0022	0.0017	0	0	9.195e-05	0	0	0	0	0.0002	0.0006	0.0039	0.076	0.50676	T	0.037	0.51737	D	0.999	0.77913	D	0.993	0.81110	D	0.000004	0.62929	D	0.063289	0.99925	0.81001	D	2.125	0.59049	M	2.24	0.17923	T	-2.67	0.57110	D	0.434	0.47949	-1.0240	0.22410	T	0.106	0.38636	T	10	0.009679943	0.00218	T	0.041307	0.59855	D	0.190	0.46781	.	.	0.43965937752	0.43585	0.2408745345011648	0.24001	.	.	0.603324532509	0.53373	T	0.135046	0.46664	T	-0.532008	0.00374	T	-0.537114	0.18581	T	0.169733807490269	0.18562	T	0.855714	0.54342	D	0.6231251	0.73930	0.43017003	0.66676	0.6231251	0.73932	0.43017003	0.66676	-10.653	0.77721	D	.	.	0.127	0.28145	B	.;.	.;.	3.763768	0.54020	23.4	0.99554709022589361	0.71397	0.93440	0.58222	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999999362221795	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.84	4.84	0.62125	2.617000	0.46049	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8311:0.1689:0.0	12.221	0.53745	56	0.97520	.;Plexin, cytoplasmic RasGAP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1904.98	60	chrX	153775089	.	C	T	1904.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.767;DP=1049;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=0.085;SOR=0.654	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1025	20	0	1	0
chrX	154016979	154016979	C	G	exonic	IRAK1	.	nonsynonymous SNV	IRAK1:NM_001025242:exon8:c.G998C:p.S333T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.737	P	0.338	B	0.000	D	0.817	N	1.04	L	-0.97	T	-0.156	T	0.578	D	0.188	2.438	14.11	2.94	0.901	0.304	0.397	0.027	0.263911540571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.286	0.26631	T	0.737	0.42882	P	0.338	0.42306	B	0.000275	0.46590	D	0.096299	0.816647	0.28935	N	1.2	0.30300	L	-0.97	0.94260	T	-1.71	0.42191	N	0.166	0.26475	-0.1564	0.78759	T	0.578	0.84773	D	10	0.1593937	0.29949	T	0.263912	0.89616	D	0.261	0.57352	0.461	0.52916	0.878924774697	0.87774	0.6863290368899297	0.68572	0.480116509671	0.47032	0.422553479671	0.28188	T	0.126456	0.45284	T	-0.0420581	0.45642	T	-0.29819	0.44915	T	0.38457915186882	0.28358	T	0.70483	0.31518	T	0.4206406	0.62134	0.29930955	0.55964	0.4206406	0.62135	0.29930955	0.55963	-7.09	0.57470	T	.	.	0.073	0.11845	B	.;.;.;.	.;.;.;.	1.469138	0.18928	14.00	0.99314057640640352	0.59129	0.18418	0.20252	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999983153148461	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.04	2.94	0.33188	-0.011000	0.12659	0.993000	0.23206	-0.244000	0.07312	0.020000	0.19661	1.000000	0.68203	0.995000	0.73285	0.2401:0.3134:0.2285:0.2179	0.397	0.00391	76	0.96806	Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1948.98	35	chrX	154016979	.	C	G	1948.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.96;DP=814;ExcessHet=0.0000;FS=1.482;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.52;ReadPosRankSum=-8.110e-01;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1042	20	0	1	0
chrX	154030377	154030377	C	G	exonic	MECP2	.	nonsynonymous SNV	MECP2:NM_001110792:exon3:c.G1487C:p.R496T	Encephalopathy, neonatal severe, X-linked recessive;Mental retardation, X-linked syndromic, Lubs type, X-linked recessive;Mental retardation, X-linked, syndromic 13, X-linked recessive;Rett syndrome, X-linked dominant;Rett syndrome, atypical, X-linked dominant;Rett syndrome, preserved speech variant, X-linked dominant	.	0	1521	0	1	0	2	0.00065703	.	.	153215	Severe_neonatal-onset_encephalopathy_with_microcephaly|not_provided|Rett_syndrome|not_specified	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:209370|MedGen:C3661900|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:3095,Orphanet:778|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.936	P	0.556	P	0.000	D	1.000	D	0.695	N	-2.94	D	0.461	D	0.677	D	0.829	2.227	13.40	5.8	2.438	3.334	17.642	0.564	0.880722018099	.	.	5.699e-05	0	0	0	0	0.0001	0	0	3.88e-05	6	154602	rs267608370	2.55e-05	2.549e-05	2.314e-05	3.025e-05	0.0041	1.768e-05	1.522e-05	0.0026	0.0022	0	0	0	0	0	0.0041	8.312e-06	4.339e-05	3.694e-05	1.789e-05	1.741e-05	2.569e-05	0	1.884e-05	2.97e-06	1.11e-06	.	.	0	0	0	0.0004	0	0	0	1.884e-05	0	0	0.012	0.54683	D	0.027	0.56640	D	0.895	0.52359	P	0.354	0.49411	B	0.000035	0.55875	D	0.154880	0.997443	0.43893	D	0.975	0.24501	L	-2.95	0.91903	D	-0.24	0.10833	N	0.459	0.67822	0.461	0.89990	D	0.677	0.88833	D	10	0.5396615	0.63647	D	0.880722	0.99091	D	0.564	0.82175	0.387	0.40788	0.995953951013	0.99590	0.3654367085597142	0.36457	.	.	0.773397326469	0.77933	T	0.45088	0.79182	T	0.0434786	0.57498	T	-0.0309137	0.68308	D	0.0793465094294269	0.09902	T	0.90311	0.66064	D	0.27841297	0.50895	0.30892062	0.56908	0.3740478	0.58882	0.3410407	0.59848	-2.822	0.08945	T	.	.	0.790	0.76819	P	.;.	.;.	3.782314	0.54387	23.5	0.93242359469472502	0.22928	0.90159	0.51118	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999999231463024	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.8	5.8	0.92081	3.383000	0.52206	7.430000	0.58785	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	17.642	0.88040	69	0.97055	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	5052.98	34	chrX	154030377	.	C	G	5052.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.790e-01;DP=1159;ExcessHet=0.0000;FS=1.108;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.01;ReadPosRankSum=0.609;SOR=0.590	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1111	20	0	1	0
chrX	154359007	154359007	T	C	exonic	FLNA	.	nonsynonymous SNV	FLNA:NM_001110556:exon26:c.A4451G:p.Q1484R	Cardiac valvular dysplasia, X-linked, X-linked recessive;Congenital short bowel syndrome, X-linked recessive;FG syndrome 2;Frontometaphyseal dysplasia 1, X-linked recessive;Heterotopia, periventricular, X-linked dominant;Intestinal pseudoobstruction, neuronal, X-linked recessive;Melnick-Needles syndrome, X-linked dominant;Otopalatodigital syndrome, type I, X-linked dominant;Otopalatodigital syndrome, type II, X-linked dominant;Terminal osseous dysplasia	YES	.	.	.	.	.	.	.	.	.	188023	Oto-palato-digital_syndrome,_type_II|Frontometaphyseal_dysplasia|Heterotopia,_periventricular,_X-linked_dominant|Melnick-Needles_syndrome|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Aortic_dilatation|Thrombocytopenia|Connective_tissue_disorder|not_provided	MONDO:MONDO:0010571,MedGen:C1844696,OMIM:304120,Orphanet:669,Orphanet:90652|MONDO:MONDO:0015942,MedGen:C0265293,OMIM:PS305620,Orphanet:1826|MONDO:MONDO:0010233,MedGen:C1848213,OMIM:300049,Orphanet:2149,Orphanet:82004|MONDO:MONDO:0010650,MedGen:C0025237,OMIM:309350,Orphanet:2484|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001724,MedGen:C0265004|Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.568	P	0.185	B	0.000	D	1.000	D	0.505	N	-2.04	D	-0.218	T	0.396	T	0.764	3.965	20.3	5.69	1.902	4.133	14.904	0.541	0.135415428427	0.0011	0.000529801	0.0012	0.0005	0.0001	0	0.0007	0.0016	0	0.0014	0.0011255	174	154602	rs200130356	0.0014	0.0014	0.0014	0.0015	0.0017	0.0014	0.0014	0.0016	0.0016	0.0002	0.0001	0	0	0.0008	0	0.0017	0.0014	0.0013	0.0008	0.0008	0.0009	0.0007	0.0016	0.0007	0.0007	0.0013	0.0012	0.0002	0	9.318e-05	0	0	0.0002	0.0092	0.0016	0	0.0007	0.119	0.28026	T	0.33	0.18560	T	0.06	0.38507	B	0.063	0.36047	B	0.000024	0.55875	D	0.070231	0.999781	0.49076	D	0.84	0.21119	L	-2.04	0.85703	D	-2.4	0.52776	N	0.477	0.69737	-0.2177	0.77212	T	0.396	0.74844	T	10	0.0398449	0.02505	T	0.135415	0.81787	D	0.541	0.80842	.	.	0.963072075308	0.96268	0.5160326652242518	0.51526	0.551739163039	0.52012	0.398355364799	0.24840	T	0.623533	0.88235	D	-0.102764	0.35968	T	0.0753074	0.75265	D	0.0258719089132402	0.01388	T	0.908809	0.67676	D	0.45605925	0.64425	0.4682193	0.69153	0.40333822	0.60964	0.5360348	0.73190	-5.522	0.42073	T	0.1491582760646051	0.17420	0.108	0.20586	B	.;.;.;.;.	.;.;.;.;.	3.653748	0.51872	23.2	0.99644982529670811	0.76943	0.98745	0.86308	D	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.99999999999995	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.69	5.69	0.88346	4.991000	0.63616	7.891000	0.73051	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.0:0.0:0.0:1.0	14.904	0.70349	81	0.96616	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1448.98	34	chrX	154359007	.	T	C	1448.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.354e+00;DP=775;ExcessHet=0.0000;FS=5.395;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.46;ReadPosRankSum=-1.930e-01;SOR=0.246	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1139	20	0	1	0
chrX	154362534	154362534	G	A	exonic	FLNA	.	nonsynonymous SNV	FLNA:NM_001110556:exon17:c.C2449T:p.P817S	Cardiac valvular dysplasia, X-linked, X-linked recessive;Congenital short bowel syndrome, X-linked recessive;FG syndrome 2;Frontometaphyseal dysplasia 1, X-linked recessive;Heterotopia, periventricular, X-linked dominant;Intestinal pseudoobstruction, neuronal, X-linked recessive;Melnick-Needles syndrome, X-linked dominant;Otopalatodigital syndrome, type I, X-linked dominant;Otopalatodigital syndrome, type II, X-linked dominant;Terminal osseous dysplasia	.	1	1519	2	0	0	2	0.000657895	.	.	191890	Oto-palato-digital_syndrome,_type_II|Frontometaphyseal_dysplasia|Heterotopia,_periventricular,_X-linked_dominant|Melnick-Needles_syndrome|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|not_provided|Disorder_of_sexual_differentiation|Connective_tissue_disorder|FLNA-related_disorder|not_specified	MONDO:MONDO:0010571,MedGen:C1844696,OMIM:304120,Orphanet:669,Orphanet:90652|MONDO:MONDO:0015942,MedGen:C0265293,OMIM:PS305620,Orphanet:1826|MONDO:MONDO:0010233,MedGen:C1848213,OMIM:300049,Orphanet:2149,Orphanet:82004|MONDO:MONDO:0010650,MedGen:C0025237,OMIM:309350,Orphanet:2484|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:C3661900|MONDO:MONDO:0002145,MedGen:C2930619,Orphanet:90771|MONDO:MONDO:0003900,MedGen:C0009782|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.996	D	0.983	D	0.000	N	1.000	D	2.955	M	-0.56	T	-0.016	T	0.519	D	0.253	1.142	9.654	4.26	1.057	3.373	6.054	0.320	0.170743209791	0.0002	.	0.0005	0	0.0001	0	0.0002	0.0008	0	0.0007	0.0005045	78	154602	rs200053635	0.0005	0.0005	0.0004	0.0005	0.0010	0.0004	0.0004	0.0007	0.0006	3.788e-05	2.84e-05	0.0002	0	0.0001	0.0010	0.0005	0.0004	0.0009	0.0003	0.0003	0.0003	0.0003	0.0018	0.0002	0.0002	0.0007	0.0005	0	0	9.326e-05	0	0	0	0	0.0005	0	0.0018	0.009	0.57480	D	0.024	0.56640	D	0.996	0.68779	D	0.983	0.75793	D	0.000023	0.55875	N	0.069507	0.999266	0.46490	D	2.42	0.70002	M	-0.56	0.71187	T	-4.3	0.76496	D	0.109	0.39760	-0.0163	0.81916	T	0.519	0.82028	D	10	0.0738256	0.11204	T	0.170743	0.84821	D	0.320	0.64215	.	.	0.862928642666	0.86159	0.5124451592651809	0.51166	0.679247475551	0.59926	0.561857461929	0.47530	T	0.777463	0.94095	D	-0.356586	0.04327	T	-0.370492	0.36831	T	0.0884660829645406	0.11033	T	0.957004	0.83719	D	0.2130943	0.43679	0.33343104	0.59180	0.2130943	0.43679	0.33343104	0.59179	-9.267	0.69400	D	0.27806414843201943	0.37291	0.172	0.43186	B	.;.;.;.;.	.;.;.;.;.	3.274559	0.44839	22.0	0.99204873185051512	0.55412	0.71265	0.34939	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999999952404109	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.13	4.26	0.49832	3.460000	0.52793	10.019000	0.83127	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.177000	0.21203	0.0783:0.1303:0.6544:0.137	6.054	0.19026	84	0.96491	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1826.98	39	chrX	154362534	.	G	A	1826.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.105;DP=879;ExcessHet=0.0000;FS=2.699;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.94;ReadPosRankSum=0.221;SOR=0.516	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1035	20	0	1	0
chrX	154366215	154366215	G	A	exonic	FLNA	.	nonsynonymous SNV	FLNA:NM_001110556:exon9:c.C1238T:p.T413M	Cardiac valvular dysplasia, X-linked, X-linked recessive;Congenital short bowel syndrome, X-linked recessive;FG syndrome 2;Frontometaphyseal dysplasia 1, X-linked recessive;Heterotopia, periventricular, X-linked dominant;Intestinal pseudoobstruction, neuronal, X-linked recessive;Melnick-Needles syndrome, X-linked dominant;Otopalatodigital syndrome, type I, X-linked dominant;Otopalatodigital syndrome, type II, X-linked dominant;Terminal osseous dysplasia	.	.	.	.	.	.	.	.	.	.	208978	Heterotopia,_periventricular,_X-linked_dominant|Melnick-Needles_syndrome|Oto-palato-digital_syndrome,_type_II|Frontometaphyseal_dysplasia|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|not_provided	MONDO:MONDO:0010233,MedGen:C1848213,OMIM:300049,Orphanet:2149,Orphanet:82004|MONDO:MONDO:0010650,MedGen:C0025237,OMIM:309350,Orphanet:2484|MONDO:MONDO:0010571,MedGen:C1844696,OMIM:304120,Orphanet:669,Orphanet:90652|MONDO:MONDO:0015942,MedGen:C0265293,OMIM:PS305620,Orphanet:1826|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.23	T	0.165	B	0.125	B	0.138	N	1.000	N	0.95	L	-1.89	D	-0.713	T	0.367	T	0.165	-0.430	2.000	0.004	-0.027	0.571	7.941	0.092	0.0648242775665	.	.	3.498e-05	0	0	0	0	6.39e-05	0	0	1.94e-05	3	154602	rs782549299	3.646e-05	3.642e-05	3.814e-05	3.306e-05	0.0005	2.748e-05	2.419e-05	8.523e-05	3.55e-05	0	8.522e-05	0	0	0	0.0005	3.8e-05	6.51e-05	0	0.0001	0.0001	0.0001	2.904e-05	0.0002	6.087e-05	4.788e-05	7.46e-05	5.462e-05	9.715e-05	0	9.315e-05	0	0	0	0	0.0002	0	0	0.239	0.17761	T	0.103	0.38305	T	0.165	0.28508	B	0.125	0.32635	B	0.137599	0.18407	N	0.457774	1	0.08975	N	1.19	0.30124	L	-1.89	0.84557	D	-1.38	0.34198	N	0.252	0.30574	-0.7131	0.59800	T	0.367	0.72750	T	10	0.21709329	0.38312	T	0.064824	0.69394	D	0.092	0.26621	0.421	0.46365	0.758234794107	0.75604	0.29476528827884185	0.29389	0.791909128975	0.65833	0.290200471878	0.08951	T	0.521619	0.83281	D	-0.281837	0.10473	T	-0.454805	0.27168	T	0.017197135835886	0.00463	T	0.810819	0.46223	T	0.032424953	0.03264	0.07956122	0.17921	0.032424953	0.03264	0.07956122	0.17920	-5.039	0.37261	T	0.14453705185565882	0.16520	0.063	0.02488	B	.;.;.;.;.	.;.;.;.;.	1.584550	0.20273	14.67	0.88706565038151652	0.18190	0.03098	0.08027	N	AEFBHCI	.	.	.	.	.	.	.	.	.	0.999988825042436	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.68	0.00435	0.13380	0.548000	0.23022	-0.253000	0.10490	0.612000	0.49041	0.003000	0.16062	0.000000	0.08366	0.231000	0.22761	0.747:0.0:0.253:0.0	7.941	0.29122	86	0.96395	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1295.98	41	chrX	154366215	.	G	A	1295.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.52;DP=849;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.98;ReadPosRankSum=-2.000e-01;SOR=0.734	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1132	20	0	1	0
chrX	154435464	154435464	A	C	exonic	ATP6AP1	.	nonsynonymous SNV	ATP6AP1:NM_001183:exon9:c.A1162C:p.T388P,	Immunodeficiency 47, X-linked recessive	.	434	1086	2	0	0	2	0.000919963	.	.	717722	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.28	T	0.005	B	0.006	B	0.142	N	1.000	N	0.55	N	.	.	-1.075	T	0.028	T	0.045	2.963	15.88	-8.59	-1.407	-1.476	5.543	0.041	.	0.0083	0.00529801	0.0024	0.0232	0.0009	0	0	2.104e-05	0	9.911e-05	0.001934	299	154602	rs140009552	0.0006	0.0006	0.0007	0.0005	0.0212	0.0006	0.0006	0.0198	0.0192	0.0212	0.0009	0	0	2.487e-05	0.0010	1.306e-05	0.0020	0.0001	0.0057	0.0059	0.0060	0.0051	0.0198	0.0054	0.0052	0.0185	0.0180	0.0198	0	0.0019	0	0	0	0	3.757e-05	0.0046	0.0004	0.346	0.12469	T	0.36	0.18395	T	0.005	0.12996	B	0.006	0.12133	B	0.141858	0.02892	N	1.603740	1	0.08975	N	0.635	0.15989	N	.	.	.	-1.05	0.27463	N	0.072	0.04547	-1.0755	0.08246	T	0.028	0.12058	T	9	0.003888905	0.00074	T	.	.	.	0.041	0.10877	.	.	0.0675242888579	0.06100	0.804307114119158	0.80384	0.344771947159	0.36405	0.280469447374	0.07558	T	0.079302	0.36097	T	-0.888689	0.00001	T	-1.03306	0.00086	T	0.00184492837984997	0.00019	T	0.356864	0.08118	T	0.3200025	0.54640	0.19307773	0.42857	0.30794594	0.53608	0.122625925	0.29576	-2.859	0.08739	T	0.15264222971573282	0.18097	0.061	0.01645	B	.;.	.;.	-0.115132	0.03552	0.683	0.86005103658211635	0.16251	0.06049	0.12019	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999999981926117	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.69	-8.59	0.00776	-1.277000	0.02920	-0.486000	0.08890	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.476000	0.28476	0.2259:0.1913:0.4938:0.0891	5.543	0.16334	81	0.96616	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1266.98	34	chrX	154435464	.	A	C	1266.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.550e-01;DP=806;ExcessHet=0.0000;FS=0.726;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=0.234;SOR=0.561	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	20	0	1	0
chrX	154468309	154468309	C	T	exonic	PLXNA3	.	nonsynonymous SNV	PLXNA3:NM_017514:exon23:c.C3970T:p.P1324S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.009	B	0.021	B	0.004	U	0.948	D	0.18	N	2.8	T	-0.976	T	0.015	T	0.076	-1.041	0.206	5.33	2.234	3.621	10.518	0.069	0.00517296761323	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.172e-07	9.105e-07	1.365e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	2.186e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.652	0.04817	T	0.639	0.06992	T	.	.	.	.	.	.	0.004063	0.34148	U	0.116625	0.94769	0.37579	D	.	.	.	2.8	0.11082	T	-0.68	0.19509	N	0.416	0.45615	-0.9762	0.35860	T	0.015	0.06234	T	10	0.24621916	0.41883	T	0.005173	0.13156	T	0.069	0.20116	0.464	0.53404	0.434880891158	0.43107	0.6578565831039377	0.65722	.	.	0.484374463558	0.36659	T	.	.	.	-0.487598	0.00670	T	-0.938177	0.00301	T	0.0701749254954816	0.08675	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.07083	B	.	.	1.846398	0.23457	16.02	0.42542316916543571	0.03143	0.92686	0.56299	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999762826612797	0.42728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.33	5.33	0.75683	3.797000	0.55219	-1.618000	0.05050	0.591000	0.32079	0.997000	0.40164	0.000000	0.08366	0.035000	0.13729	0.0:0.9076:0.0:0.0924	10.518	0.44090	74	0.96871	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	888.98	63	chrX	154468309	.	C	T	888.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=1088;ExcessHet=0.0000;FS=0.938;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=-1.710e-01;SOR=0.657	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1260	20	0	1	0
chrX	154532990	154532990	C	T	exonic	G6PD	.	nonsynonymous SNV	G6PD:NM_000402:exon9:c.G1093A:p.A365T	Favism, Autosomal dominant;Hemolytic anemia due to G6PD deficiency, X-linked recessive	YES	0	1498	15	9	0	33	0.0108947	.	.	25402	not_specified|Malaria,_susceptibility_to|not_provided|Anemia,_nonspherocytic_hemolytic,_due_to_G6PD_deficiency|Inborn_genetic_diseases|G6PD_CHATHAM	MedGen:CN169374|MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673|MedGen:C3661900|MONDO:MONDO:0010480,MedGen:C2720289,OMIM:300908,Orphanet:466026|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	0	D	0.985	D	0.632	P	0.000	D	0.999	D	2.07	M	-4.86	D	1.016	D	0.924	D	0.838	3.174	16.62	5.77	2.428	0.512	11.968	0.609	0.640463473904	9.5e-05	.	0.0002	0	0.0001	0.0002	0	0.0001	0.0016	0.0007	0.0001811	28	154602	rs5030869	0.0001	0.0001	9.529e-05	0.0002	0.0022	0.0001	0.0001	0.0014	0.0013	0	0	0	0	0	0.0022	3.563e-05	0.0004	0.0017	7.98e-05	7.825e-05	7.708e-05	8.587e-05	0.0018	4.146e-05	3.011e-05	0.0007	0.0005	0	0	0	0	0	0	0	7.524e-05	0	0.0018	0.003	0.68238	D	0.009	0.70582	D	0.961	0.55431	D	0.632	0.51815	P	0.000000	0.84330	D	0.000000	0.999204	0.46326	D	1.83	0.48079	L	-4.86	0.98263	D	-0.84	0.22944	N	0.512	0.54322	1.016	0.97462	D	0.924	0.97493	D	10	0.2626309	0.43733	T	0.640463	0.96934	D	0.609	0.84666	.	.	0.992300379967	0.99221	0.8653505156550084	0.86500	1.81731878846	0.91879	0.608502745628	0.54105	T	0.753592	0.93267	D	0.170001	0.71124	D	0.430885	0.93071	D	0.076977080891245	0.09596	T	0.884712	0.60854	D	0.8069284	0.84352	0.7171555	0.83304	0.8257544	0.85611	0.75738084	0.85663	-7.3	0.56622	T	0.3153788254411631	0.41341	0.298	0.63352	B	.;.;.;.;.	.;.;.;.;.	2.540493	0.32863	19.17	0.99848937268831928	0.92838	0.45951	0.27652	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999456961947	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.77	5.77	0.91077	0.969000	0.28967	3.211000	0.36801	0.581000	0.30040	0.460000	0.26644	0.997000	0.33255	0.179000	0.21265	0.0:0.83:0.17:0.0	11.968	0.52337	80	0.96670	Glucose-6-phosphate dehydrogenase, C-terminal;Glucose-6-phosphate dehydrogenase, C-terminal;Glucose-6-phosphate dehydrogenase, C-terminal;.;Glucose-6-phosphate dehydrogenase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	7571.88	38	chrX	154532990	.	C	T	7571.88	.	AC=4;AF=0.095;AN=42;DP=974;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=4;MLEAF=0.095;MQ=60.00;QD=31.03;SOR=1.010	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	19	2	0	0
chrX	154534419	154534419	G	A	exonic	G6PD	.	nonsynonymous SNV	G6PD:NM_000402:exon6:c.C653T:p.S218F	Favism, Autosomal dominant;Hemolytic anemia due to G6PD deficiency, X-linked recessive	YES	1	1326	123	72	0	267	0.0914697	.	.	25407	G6PD-related_disorder|G6PD_deficient_hemolytic_anemia|Inborn_genetic_diseases|Hemolytic_anemia,_G6PD_deficient_(favism)|Malaria,_susceptibility_to|Anemia,_nonspherocytic_hemolytic,_due_to_G6PD_deficiency|See_cases|G6PD_CAGLIARI|G6PD_deficiency|G6PD_MEDITERRANEAN|G6PD_SASSARI|not_provided	.|.|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673|MONDO:MONDO:0010480,MedGen:C2720289,OMIM:300908,Orphanet:466026|.|.|MONDO:MONDO:0005775,MedGen:C2939465|.|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.04	D	0.022	B	0.039	B	0.000	D	1.000	D	3.015	M	-4.87	D	0.957	D	0.933	D	0.809	3.643	18.52	5.65	2.361	6.312	15.929	0.811	.	0.0007	0.000794702	0.0027	0.0004	0.0006	0	0	0.0011	0.0112	0.0160	0.0024838	384	154602	rs5030868	0.0015	0.0015	0.0011	0.0023	0.0435	0.0014	0.0014	0.0383	0.0363	0.0003	2.842e-05	0.0055	0	0	0.0435	0.0002	0.0032	0.0189	0.0007	0.0008	0.0006	0.0011	0.0149	0.0006	0.0005	0.0113	0.0100	0.0001	0	0	0.0060	0	0	0.0138	0.0002	0.0046	0.0149	0.017	0.52492	D	0.008	0.67890	D	0.022	0.18677	B	0.039	0.23607	B	0.000101	0.50451	D	0.177639	1	0.81001	D	3.42	0.91902	M	-4.87	0.98279	D	-4.22	0.75935	D	0.562	0.70615	0.957	0.96492	D	0.933	0.97805	D	10	0.012398928	0.00267	T	.	.	.	0.811	0.93892	.	.	0.989763325404	0.98964	0.927394258905308	0.92717	0.202134561341	0.22635	0.361571013927	0.19615	T	0.958441	0.99448	D	0.148364	0.69115	D	0.453964	0.93676	D	0.128705447749552	0.15261	T	0.953605	0.82399	D	0.90304965	0.91658	0.8944889	0.94585	0.9519563	0.96465	0.8714105	0.92964	-11.526	0.83968	D	0.6452008465600814	0.71653	0.361	0.69938	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.714215	0.53042	23.3	0.99560193252273865	0.71707	0.94225	0.60494	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999999999995	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.65	5.65	0.86881	5.542000	0.66927	9.812000	0.81753	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	15.929	0.79431	80	0.96670	Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding;.;Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2242.98	35	chrX	154534419	.	G	A	2242.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=877;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=0.624;SOR=0.746	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	20	0	1	0
chrX	154556314	154556314	G	A	exonic	IKBKG	.	nonsynonymous SNV	IKBKG:NM_001099856:exon3:c.G541A:p.D181N	Ectodermal dysplasia, hypohidrotic, with immune deficiency;Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency;Immunodeficiency 33, X-linked recessive;Immunodeficiency, isolated;Incontinentia pigmenti, X-linked dominant;Invasive pneumococcal disease, recurrent isolated, 2	.	284	1211	26	1	0	28	0.0114286	.	.	79126	Immunodeficiency_33|not_provided|Ectodermal_dysplasia_and_immunodeficiency_1	MONDO:MONDO:0010386,MedGen:C1970879,OMIM:300636,Orphanet:319605,Orphanet:319612|MedGen:C3661900|MONDO:MONDO:0020740,MedGen:C1846008,OMIM:300291,Orphanet:238468,Orphanet:98813	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.28	T	0.959	D	0.501	P	0.349	N	1.000	N	1.5	L	-0.75	T	0.204	D	0.789	D	0.049	1.516	11.02	4.4	1.929	2.388	11.865	0.189	0.224673559886	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs179363896	0.0086	0.0072	0.0130	0.0002	0.0098	0.0084	0.0083	0.0094	0.0093	0.0009	0.0027	0.0057	0	0.0175	0.0068	0.0098	0.0102	0.0065	0.0071	0.0069	0.0086	0.0003	0.0110	0.0067	0.0065	0.0102	0.0099	0.0018	0	0.0029	0.0069	0	0.0118	0.0057	0.0110	0.0070	0.0053	0.051	0.39334	T	0.1	0.66756	T	0.959	0.55135	D	0.501	0.47677	P	0.348836	0.13848	N	0.711988	0.99991	0.19781	N	1.245	0.31408	L	-1.65	0.95145	D	-1.33	0.36385	N	0.268	0.67304	0.204	0.85974	D	0.789	0.92861	D	10	0.006111324	0.00137	T	0.224674	0.87961	D	0.189	0.46613	0.188	0.09776	0.887711601573	0.88661	0.2985456713466058	0.29767	.	.	0.304108560085	0.11016	T	0.029732	0.70431	T	-0.467963	0.00875	T	-0.430693	0.29857	T	0.00792731663657177	0.00093	T	0.759324	0.40277	T	0.062621504	0.13099	0.12752393	0.30696	0.05325337	0.10051	0.15068215	0.35525	-5.747	0.44110	T	0.16878907404782587	0.21126	0.106	0.47848	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	1.886100	0.23959	16.22	0.99598339821547865	0.74042	0.28121	0.23466	N	AEFGI	.	.	.	.	.	.	.	.	.	0.998316003727758	0.36741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.4	4.4	0.52402	1.686000	0.37287	4.926000	0.46086	-0.749000	0.03603	0.071000	0.22100	1.000000	0.68203	0.776000	0.36750	0.0:0.0:1.0:0.0	11.865	0.51766	80	0.96670	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.05263	133.36	9	chrX	154556314	.	G	A	133.36	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.35;DP=148;ExcessHet=0.1128;FS=0.000;InbreedingCoeff=-0.0907;MLEAC=2;MLEAF=0.053;MQ=27.00;MQRankSum=0.00;QD=5.80;ReadPosRankSum=0.319;SOR=0.200	GT:AD:DP:GQ:PL	0/0:5,0:5:15:0,15,168	17	0	2	2
chrX	154776816	154776816	-	AAG	exonic	DKC1	.	nonframeshift insertion	DKC1:NM_001142463:exon15:c.1479_1480insAAG:p.K500_A501insK	Dyskeratosis congenita, X-linked, X-linked recessive	.	1	1335	119	53	14	239	0.0777202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3716.36	93	chrX	154776813	.	CAAG	C,CAAGAAG	3716.36	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=0.985;DP=967;ExcessHet=0.3300;FS=2.012;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=12.56;ReadPosRankSum=-5.560e-01;SOR=0.821	GT:AD:DP:GQ:PL	0/0:33,0,0:33:99:0,99,1035,99,1035,1035	18	0	1	0
chrX	154887269	154887269	T	A	exonic	F8A1;F8A2;F8A3	.	nonsynonymous SNV	F8A2:NM_001007523:exon1:c.T895A:p.S299T	.	.	1132	389	1	0	0	1	0.0012837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.071	B	0.02	B	0.009	U	1.000	N	1.04	L	2.01	T	-0.992	T	0.029	T	0.199	-0.023	3.897	1.18	0.242	1.140	6.368	0.028	0.00742575478766	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1372700297	0.0006	0.0006	0.0008	0.0002	0.0105	0.0005	0.0005	0.0094	0.0090	0	4.304e-05	0	0.0105	0	0.0005	0.0001	0.0006	0.0024	0.0003	0.0004	0.0004	0	0.0090	0.0002	0.0002	0.0053	0.0042	0	0	0	0	0.0090	0	0.0056	7.866e-05	0.0014	0.0010	.	.	.	0.864	0.03371	T	0.071	0.23930	B	0.02	0.19048	B	0.009286	0.30429	U	0.264374	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.265	0.30004	-0.9921	0.32063	T	0.029	0.12278	T	10	0.017606884	0.00377	T	0.007426	0.19712	T	.	.	0.188	0.09776	0.294206760003	0.29026	0.43534587454097357	0.43451	.	.	0.850572109222	0.89702	D	0.017287	0.14127	T	-0.220878	0.17874	T	-0.555052	0.16845	T	0.125031068921089	0.14915	T	0.776522	0.40874	T	0.2848136	0.51506	0.29975963	0.56010	0.2848136	0.51506	0.29975963	0.56009	-3.174	0.12165	T	.	.	.	.	.	.	.	1.948077	0.24746	16.51	0.94099304249995241	0.24261	0.64842	0.32539	D	AEFI	.	.	.	.	.	.	.	.	.	4.68507251805211E-5	0.03989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.41	1.18	0.20058	-0.109000	0.10810	4.430000	0.43347	0.479000	0.22080	0.014000	0.18986	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.5226:0.4774	6.368	0.20668	89	0.96298	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02778	65.83	5	chrX	154887269	.	T	A	65.83	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.150e+00;DP=61;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0984;MLEAC=1;MLEAF=0.028;MQ=25.00;MQRankSum=0.00;QD=16.46;ReadPosRankSum=0.674;SOR=1.609	GT:AD:DP:GQ:PL	./.	17	0	1	3
chrX	154928659	154928659	G	T	exonic	F8	.	nonsynonymous SNV	F8:NM_000132:exon14:c.C5131A:p.Q1711K,	Hemophilia A, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.89	P	0.402	B	0.087	N	1.000	N	1.655	L	-5.19	D	0.894	D	0.891	D	0.116	3.331	17.21	3.05	0.841	1.765	8.686	0.417	0.580312381874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.184e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.40573	D	0.015	0.61642	D	0.89	0.48942	P	0.402	0.44547	B	0.087023	0.20555	N	0.525914	0.526319	0.31527	N	2.11	0.58565	M	-5.19	0.98838	D	-2.11	0.48020	N	0.254	0.28732	0.894	0.95585	D	0.891	0.96375	D	10	0.4315882	0.57526	T	0.580312	0.96237	D	0.417	0.72705	0.325	0.30711	0.909904499923	0.90900	0.599139701443422	0.59844	0.0576120744431	0.06381	0.435637295246	0.29980	T	0.466501	0.80122	T	0.0217563	0.54619	T	-0.206525	0.54027	T	0.476094104983387	0.31754	T	0.750425	0.37198	T	0.4894178	0.66468	0.28348273	0.54341	0.4894178	0.66469	0.28348273	0.54340	-4.423	0.29867	T	0.3898220600648977	0.48314	0.111	0.21466	B	.	.	2.782803	0.36562	20.3	0.99445289241789481	0.64971	0.62169	0.31701	D	AEFBI	.	.	.	.	.	.	.	.	.	1.41832043686386E-4	0.05573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.01	3.05	0.34272	1.386000	0.34025	5.577000	0.48958	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.587:0.413	8.686	0.33402	91	0.96221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	104.57	35	chrX	154928659	.	G	T	104.57	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-5.254e+00;DP=3685;ExcessHet=0.0000;FS=215.366;InbreedingCoeff=-0.2354;MLEAC=2;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=0.39;ReadPosRankSum=2.90;SOR=8.222	GT:AD:DP:GQ:PL	./.:123,0:123:0:0,0,2596	6	0	1	14
chrX	154956961	154956961	T	C	exonic	F8	.	nonsynonymous SNV	F8:NM_000132:exon11:c.A1748G:p.N583S,	Hemophilia A, X-linked recessive	YES	0	225	0	1	0	2	0.00442478	.	.	481379	Hereditary_factor_VIII_deficiency_disease	MONDO:MONDO:0010602,MedGen:C0019069,OMIM:134500,OMIM:306700,Orphanet:98878	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.16	T	1.0	D	0.996	D	0.000	D	1.000	D	1.27	L	-5.23	D	1.059	D	0.945	D	0.044	2.954	15.85	5.19	1.727	1.956	12.926	0.629	0.9265116347	.	.	2.279e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs782657516	1.734e-05	1.73e-05	5.446e-06	4.155e-05	0.0003	1.109e-05	8.94e-06	0.0002	0.0002	0	0	0	0	0	0	1.191e-06	2.174e-05	0.0003	2.672e-05	2.609e-05	1.285e-05	5.809e-05	0.0011	7.1e-06	2.97e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0011	0.089	0.32141	T	0.011	0.64786	D	1.0	0.90584	D	0.996	0.84481	D	0.000024	0.55875	D	0.155638	0.999722	0.48557	D	1.095	0.27400	L	-5.23	0.98892	D	-2.39	0.52612	N	0.055	0.02658	1.059	0.98321	D	0.945	0.98184	D	10	0.7079958	0.72862	D	0.926512	0.99464	D	0.629	0.85718	0.73	0.86373	0.984672753151	0.98450	0.954050767689727	0.95389	1.46387727901	0.86409	0.613436818123	0.54802	T	0.497398	0.81929	T	-0.24079	0.15248	T	-0.323976	0.42138	T	0.416316891983362	0.29554	T	0.911409	0.68582	D	0.7084721	0.78523	0.41316167	0.65497	0.7084721	0.78525	0.41316167	0.65497	-5.66	0.43335	T	0.745327585685457	0.82742	0.326	0.54968	B	.	.	3.892787	0.56649	23.8	0.99817250857811279	0.90061	0.82677	0.41872	D	AEFBI	.	.	.	.	.	.	.	.	.	0.0678368658252265	0.15439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.19	5.19	0.71428	1.950000	0.39948	7.724000	0.67448	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:0.0:1.0	12.926	0.57656	203	0.92088	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1992.98	35	chrX	154956961	.	T	C	1992.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=873;ExcessHet=0.0000;FS=3.539;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=0.037;SOR=0.470	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1198	20	0	1	0
chrX	155228427	155228427	A	G	exonic	VBP1	.	nonsynonymous SNV	VBP1:NM_001303543:exon4:c.A437G:p.N146S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.248	B	0.112	B	0.000	D	1.000	D	0.59	N	1.04	T	-1.072	T	0.067	T	0.077	1.485	10.91	5.05	1.802	5.883	11.986	0.084	0.025127537451	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1295528091	1.368e-05	1.366e-05	1.498e-05	1.104e-05	0.0005	8.21e-06	6.51e-06	8.525e-05	3.55e-05	0	0	0	0	0	0.0005	1.188e-05	6.515e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.19710	T	0.488	0.15157	T	.	.	.	.	.	.	0.000000	0.84330	D	0.084267	0.999921	0.51308	D	.	.	.	1.04	0.40218	T	-0.78	0.23808	N	0.235	0.26475	-1.0716	0.09065	T	0.067	0.27468	T	10	0.33188182	0.50403	T	0.025128	0.48109	D	0.084	0.24469	.	.	0.748486626082	0.74621	0.7655910763476341	0.76508	0.75338876642	0.63892	0.592046022415	0.51783	T	0.023203	0.17756	T	-0.371388	0.03524	T	-0.77125	0.02727	T	0.760936856269836	0.43905	D	0.965003	0.87031	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.20972	B	.;.;.	.;.;.	2.884870	0.38188	20.7	0.98707430871616975	0.44996	0.93938	0.59628	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999751209188544	0.42595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.05	5.05	0.67566	5.874000	0.69399	11.056000	0.85368	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	11.986	0.52438	526	0.73951	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1691.98	39	chrX	155228427	.	A	G	1691.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.080e-01;DP=922;ExcessHet=0.0000;FS=0.666;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.43;ReadPosRankSum=0.088;SOR=0.687	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	20	0	1	0
chrY	7063966	7063966	G	A	exonic	TBL1Y	.	nonsynonymous SNV	TBL1Y:NM_134258:exon7:c.G274A:p.V92M	.	.	956	548	0	18	0	36	0.0318021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0299007507678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.103e-05	1.1e-05	.	1.103e-05	0.0006	3.58e-06	1.74e-06	1.23e-06	4.6e-07	0	0	0	0	0	0.0006	7.424e-06	7.014e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.41096	D	0.204	0.27235	T	0.215	0.30128	B	0.065	0.27321	B	.	.	.	.	0.999921	0.81001	D	2.945	0.84822	M	0.46	0.56281	T	-1.03	0.27052	N	0.571	0.62103	.	.	.	.	.	.	.	0.33000416	0.50245	T	0.029901	0.52319	D	.	.	.	.	0.49676076625	0.49313	0.9279290294866216	0.92770	.	.	.	.	.	0.050777	0.28692	T	-0.106629	0.35327	T	-0.390942	0.34440	T	.	.	.	0.998349	0.99205	D	0.25299135	0.48318	0.24313185	0.49750	0.25299135	0.48318	0.24313185	0.49749	-6.829	0.52774	T	.	.	0.264	0.49816	B	.;.;.	.;.;.	3.785799	0.54463	23.5	0.99600492020469755	0.74160	0.95130	0.63548	D	AEF	.	.	.	.	.	.	.	.	.	0.999980299831397	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.31	2.31	0.27816	8.318000	0.89906	10.814000	0.83826	0.318000	0.19305	1.000000	0.71638	1.000000	0.68203	0.016000	0.10718	.	.	.	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1111	5947.74	496	chrY	7063966	.	G	A	5947.74	.	AC=2;AF=0.111;AN=18;DP=496;ExcessHet=0.0000;FS=0.000;MLEAC=4;MLEAF=0.222;MQ=60.00;QD=30.35;SOR=1.156	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1281	8	1	0	12
chrY	9467257	9467257	G	A	exonic	TSPY1	.	nonsynonymous SNV	TSPY1:NM_001197242:exon1:c.G257A:p.R86Q	.	.	1147	333	32	10	0	52	0.0724234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.982	D	0.543	P	.	.	.	.	0.345	N	1.55	T	-1.042	T	0.020	T	0.125	-1.151	0.102	.	-0.000	-1.449	.	0.052	.	.	.	0.1667	.	.	0	.	.	.	0.2	3.84e-05	1	26028	rs777840135	0.0001	0.0005	.	0.0001	0.0011	9.158e-05	8.115e-05	0.0007	0.0006	0	0	0	0	0.0001	0	6.671e-05	8.002e-05	0.0011	3.003e-05	0.0002	.	3.003e-05	0.0007	0	0	.	.	0	0	0	0	0.0007	0	0	0	0	0	0.413	0.10052	T	0.586	0.15059	T	0.942	0.58077	P	0.102	0.43842	B	.	.	.	.	.	.	.	1.24	0.30952	L	1.55	0.29866	T	0.29	0.04161	N	0.051	0.04790	-1.0424	0.16592	T	0.020	0.08500	T	5	0.0024063885	0.00036	T	.	.	.	0.052	0.14661	.	.	0.15556083564	0.15200	0.056038622022919246	0.05544	.	.	.	.	.	0.009498	0.08644	T	-0.450626	0.01120	T	-0.885069	0.00613	T	0.039082858610258	0.03525	T	0.458954	0.13262	T	0.09309585	0.21857	0.15247531	0.35872	0.09309585	0.21857	0.15247531	0.35871	-3.152	0.11903	T	.	.	0.072	0.09578	B	.;.	.;.	0.182618	0.05701	2.146	0.81828080224814892	0.13880	0.00167	0.00991	N	AEF	.	.	.	.	.	.	.	.	.	1.11426519872457E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.090000	0.11129	.	.	0.221000	0.18078	0.946000	0.32893	0.000000	0.08366	0.005000	0.06747	.	.	.	.	.	.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.07143	264.27	81	chrY	9467257	.	G	A	264.27	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.53;DP=81;ExcessHet=0.0000;FS=4.419;MLEAC=2;MLEAF=0.143;MQ=34.78;MQRankSum=-7.960e-01;QD=12.58;ReadPosRankSum=0.776;SOR=1.897	GT:AD:DP:GQ:PL	0/0:13,0:13:39:0,39,413	6	0	1	14
chrY	9467432	9467432	C	G	exonic	TSPY1	.	nonsynonymous SNV	TSPY1:NM_001197242:exon1:c.C432G:p.H144Q	.	.	1129	390	2	1	0	4	0.00510204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.996	D	.	.	.	.	2.07	M	1.75	T	-1.069	T	0.073	T	0.268	0.948	8.866	.	-0.000	0.271	.	0.073	0.978378320157	.	.	0	.	.	.	.	.	.	.	3.84e-05	1	26028	rs772185599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0003	.	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.014	0.53172	D	0.013	0.63109	D	0.999	0.77913	D	0.996	0.84481	D	.	.	.	.	.	.	.	2.345	0.67358	M	1.75	0.26152	T	-5.99	0.89401	D	0.225	0.25253	-1.0690	0.09634	T	0.073	0.29515	T	5	0.10270485	0.18840	T	0.978378	0.99882	D	0.073	0.21317	.	.	0.193865811164	0.18958	0.12784609756287668	0.12709	.	.	.	.	.	0.10629	0.41750	T	-0.277042	0.10984	T	-0.635728	0.09984	T	0.880145311355591	0.53014	D	0.480552	0.15143	T	0.5745436	0.71310	0.40950003	0.65237	0.5745436	0.71311	0.40950003	0.65237	-6.135	0.47395	T	.	.	0.639	0.70690	P	.;.	.;.	1.268877	0.16672	12.69	0.83918520770427629	0.14993	0.04546	0.10183	N	AEF	.	.	.	.	.	.	.	.	.	1.09506468559346E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.187000	0.31699	.	.	0.200000	0.17917	0.934000	0.32416	0.000000	0.08366	0.022000	0.11911	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	141.2	61	chrY	9467432	.	C	G	141.2	.	AC=4;AF=0.333;AN=12;DP=61;ExcessHet=0.0000;FS=0.000;MLEAC=6;MLEAF=0.500;MQ=26.77;QD=28.24;SOR=3.611	GT:AD:DP:GQ:PL	0/0:25,0:25:72:0,72,686	4	2	0	15
chrY	9468575	9468575	C	T	exonic	TSPY1	.	nonsynonymous SNV	TSPY1:NM_001197242:exon4:c.C739T:p.R247C	.	.	1112	376	34	0	0	34	0.043257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.986	D	.	.	.	.	2.265	M	1.41	T	-1.026	T	0.095	T	0.136	0.836	8.372	.	-0.000	-0.409	.	0.077	0.942448804252	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1453465763	0	3.698e-05	.	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.148	0.47581	T	1.0	0.90584	D	0.986	0.76916	D	.	.	.	.	.	.	.	2.19	0.61577	M	1.41	0.33412	T	-2.46	0.53736	N	0.091	0.06990	-1.0255	0.21919	T	0.095	0.35924	T	5	0.3254106	0.49852	T	0.942449	0.99595	D	0.077	0.22490	.	.	0.0954503805726	0.09146	0.1224262590712214	0.12169	.	.	.	.	.	0.061559	0.31686	T	-0.594515	0.00157	T	-0.799608	0.01912	T	0.297556161880493	0.24903	T	0.954405	0.82627	D	0.1592242	0.35779	0.26193547	0.51978	0.1592242	0.35779	0.26193547	0.51977	-4.639	0.33968	T	.	.	0.217	0.45359	B	.;.	.;.	2.000986	0.25425	16.76	0.99244968679632095	0.56662	0.00250	0.01379	N	AEF	.	.	.	.	.	.	.	.	.	1.14592207977015E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.248000	0.08872	.	.	0.200000	0.17917	0.007000	0.17678	0.000000	0.08366	0.017000	0.10941	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	53.92	309	chrY	9468575	.	C	T	53.92	.	AC=1;AF=0.071;AN=14;BaseQRankSum=4.59;DP=309;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=0.143;MQ=20.22;MQRankSum=0.212;QD=1.15;ReadPosRankSum=1.05;SOR=0.409	GT:AD:DP:GQ:PL	0/0:33,0:33:70:0,70,1067	6	0	1	14
chrY	9487703	9487703	C	G	exonic	TSPY10;TSPY3;TSPY4	.	nonsynonymous SNV	TSPY4:NM_001164471:exon1:c.C391G:p.Q131E	.	.	1050	467	5	0	0	5	0.00532481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280806082202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.529e-06	.	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05556	66.79	312	chrY	9487703	.	C	G	66.79	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-3.470e-01;DP=312;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=0.111;MQ=22.15;MQRankSum=-9.700e-01;QD=1.28;ReadPosRankSum=0.012;SOR=0.743	GT:AD:DP:GQ:PL	0/0:31,0:31:87:0,87,1305	8	0	1	12
chrY	9529058	9529063	GAAGAT	-	exonic	TSPY10;TSPY3	.	nonframeshift deletion	TSPY3:NM_001077697:exon2:c.526_531del:p.E178_D179del	.	.	1124	375	23	0	0	23	0.0297542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	.	.	.	3.84e-05	1	26028	rs775696224	0.0001	0.0003	.	0.0001	0.0003	7.81e-05	6.801e-05	7.556e-05	6.341e-05	0.0002	0.0003	0	0	0	0	0.0001	0.0003	7.071e-05	0	0.0008	.	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	374.89	185	chrY	9529057	.	CGAAGAT	C	374.89	.	AC=1;AF=0.063;AN=16;BaseQRankSum=1.11;DP=185;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=0.125;MQ=21.26;MQRankSum=2.51;QD=9.87;ReadPosRankSum=0.660;SOR=0.169	GT:AD:DP:GQ:PL	0/0:15,0:15:45:0,45,506	7	0	1	13
chrY	14840805	14840805	T	C	exonic	NLGN4Y	.	nonsynonymous SNV	NLGN4Y:NM_001206850:exon6:c.T1490C:p.I497T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198082355527	.	.	2.973e-05	0	0	0	0	5.338e-05	0	0	3.84e-05	1	26028	rs756153038	5.502e-06	5.5e-06	.	5.502e-06	0.0006	9.2e-07	3.4e-07	.	.	0	0	0	0	0	0.0006	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.23541	T	0.206	0.27056	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	.	.	.	1.78	0.46185	L	-0.05	0.65563	T	-0.99	0.26200	N	0.251	0.28381	.	.	.	.	.	.	.	0.19769144	0.35710	T	0.198082	0.86575	D	.	.	.	.	0.082315109003	0.07666	.	.	0.621815741039	0.56462	.	.	.	0.02699	0.19857	T	-0.311628	0.07605	T	-0.588555	0.13792	T	.	.	.	0.891811	0.62701	D	0.14148358	0.32598	0.25339532	0.50986	0.14148358	0.32598	0.25339532	0.50986	-5.662	0.46288	T	.	.	0.092	0.36535	B	.;.;.;.;.	.;.;.;.;.	2.946322	0.39190	20.9	0.61938778354923119	0.06835	0.62880	0.31917	D	AEF	.	.	.	.	.	.	.	.	.	0.9999708026436	0.50053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.9	1.9	0.24770	3.098000	0.49950	4.190000	0.42397	0.312000	0.19173	0.997000	0.40164	0.984000	0.30665	0.975000	0.56047	.	.	.	.	.	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09091	11707.28	706	chrY	14840805	.	T	C	11707.28	.	AC=2;AF=0.091;AN=22;BaseQRankSum=0.148;DP=706;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=3;MLEAF=0.136;MQ=49.34;MQRankSum=1.64;QD=32.98;ReadPosRankSum=1.07;SOR=1.039	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	10	1	0	10